#version 2.4
## 
## Oncotator v1.0.0.0rc40 |
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
KIAA0090	23065	broad.mit.edu	37	1	19549914	19549914	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:19549914G>A	uc001bbo.2	-	19	2395	c.2352C>T	c.(2350-2352)ATC>ATT	p.I784I	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	784	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CTGAATGCACGATATGGACAG	0.537		NaN											0	0	0	0.004482	0	8	281				
COL9A2	1298	broad.mit.edu	37	1	40766912	40766912	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:40766912C>G	uc001cfh.1	-	32	2082	c.2012G>C	c.(2011-2013)GGA>GCA	p.G671A	COL9A2_uc001cfi.1_Missense_Mutation_p.G490A	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	671	Nonhelical region 1 (NC1).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCGAAGCTCCAAGGCAGGC	0.677		NaN											0	0	0	0.016522	0	22	34				
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:44474107G>A	uc001cll.2	-	5	919	c.727C>T	c.(727-729)CGG>TGG	p.R243W	SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	243	Extracellular (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642		NaN											0	0	0	0.006122	0	15	111				
HSPB11	51668	broad.mit.edu	37	1	54395807	54395807	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:54395807G>A	uc001cwh.2	-	3	186	c.110C>T	c.(109-111)ACG>ATG	p.T37M	HSPB11_uc001cwi.1_Missense_Mutation_p.T37M	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	37					cell adhesion|response to stress						0						GGTCCAAAACGTTTCTGGATT	0.284		NaN											0	0	0	0.01441	0	49	76				
ITGA10	8515	broad.mit.edu	37	1	145534100	145534100	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:145534100C>G	uc001eoa.2	+	14	1681	c.1605C>G	c.(1603-1605)CTC>CTG	p.L535L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L404L|ITGA10_uc009wiw.2_Silent_p.L392L|ITGA10_uc010oyw.1_Silent_p.L480L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	535	Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTGACCCTCCAAGGAACAC	0.532		NaN											0	0	0	0.011902	0	43	175				
S100A8	6279	broad.mit.edu	37	1	153362976	153362976	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:153362976G>A	uc001fbs.2	-	2	91	c.36C>T	c.(34-36)ATC>ATT	p.I12I		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	12	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACGTCGATGATAGAGTTCA	0.493		NaN											0	0	0	0.01441	0	64	231				
CCT3	7203	broad.mit.edu	37	1	156281973	156281973	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156281973C>G	uc001fol.1	-	11	1234	c.1014G>C	c.(1012-1014)CTG>CTC	p.L338L	CCT3_uc001fom.1_Silent_p.L337L|CCT3_uc001fon.1_Silent_p.L300L|CCT3_uc010phj.1_Silent_p.L292L|CCT3_uc010phk.1_Silent_p.L292L|CCT3_uc010phl.1_Silent_p.L292L	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	338					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CATCTTCTCTCAGTTCCTCTG	0.478		NaN											0	0	0	0.012213	0	31	78				
NES	10763	broad.mit.edu	37	1	156647053	156647053	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156647053C>G	uc001fpq.2	-	1	137	c.4G>C	c.(4-6)GAG>CAG	p.E2Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	2	Head.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCAGCCCTCCATCCTGCTC	0.627		NaN											0	0	0	0.009096	0	4	33				
PVRL4	81607	broad.mit.edu	37	1	161047356	161047356	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:161047356G>A	uc001fxo.2	-	3	916	c.617C>T	c.(616-618)TCA>TTA	p.S206L	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	206	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGAACTCTGAGGTGACGGC	0.622		NaN											0	0	0	0.01441	0	53	424				
FMO2	2327	broad.mit.edu	37	1	171154946	171154946	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:171154946G>C	uc001ghk.1	+	2	211	c.94G>C	c.(94-96)GAG>CAG	p.E32Q	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	32					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTGCTTTGAGAGAACTGA	0.463		NaN											0	0	0	0.013114	0	43	157				
C1orf9	51430	broad.mit.edu	37	1	172558229	172558229	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:172558229A>T	uc001giq.3	+	18	2304	c.1988A>T	c.(1987-1989)CAA>CTA	p.Q663L	C1orf9_uc010pmm.1_Missense_Mutation_p.Q663L|C1orf9_uc009wwd.2_Missense_Mutation_p.Q619L|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	663					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GTGTTAGCTCAACCACCCTTA	0.398		NaN											0	0	0	0.001168	0	5	45				
LAMC2	3918	broad.mit.edu	37	1	183209495	183209495	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:183209495C>T	uc001gqa.2	+	22	3611	c.3297C>T	c.(3295-3297)CTC>CTT	p.L1099L	LAMC2_uc001gpz.3_Silent_p.L1099L|LAMC2_uc010poa.1_Silent_p.L799L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1099	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AAGACACACTCAACACATTAG	0.498		NaN											0	0	0	0.004482	0	9	53				
NVL	4931	broad.mit.edu	37	1	224492852	224492852	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:224492852G>C	uc001hok.2	-	7	675	c.632C>G	c.(631-633)TCT>TGT	p.S211C	NVL_uc001hol.2_Missense_Mutation_p.S105C|NVL_uc010pvd.1_Missense_Mutation_p.S120C|NVL_uc010pve.1_5'UTR|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	211						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CTCCAAAAGAGAAGAATCTTT	0.318		NaN											0	0	0	0.007291	0	29	60				
SDCCAG8	10806	broad.mit.edu	37	1	243471361	243471361	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:243471361C>G	uc001hzw.2	+	8	967	c.811C>G	c.(811-813)CTG>GTG	p.L271V	SDCCAG8_uc010pyk.1_Missense_Mutation_p.L126V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.L83V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.L83V	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	271	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AGAATTTCTTCTGGCTGCTAA	0.368		NaN											0	0	0	0.01441	0	90	91				
OR2T6	254879	broad.mit.edu	37	1	248551039	248551039	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:248551039G>A	uc001iei.1	+	1	130	c.130G>A	c.(130-132)GTC>ATC	p.V44I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTAATGGGGTCATGATCTT	0.468		NaN											0	0	0	0.008871	0	20	82				
ADAMTS14	140766	broad.mit.edu	37	10	72520559	72520559	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:72520559G>C	uc001jrh.2	+	22	3622	c.3622G>C	c.(3622-3624)GAC>CAC	p.D1208H	ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1211H	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1208	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						ACCTGGAGAAGACCTGAGACA	0.642		NaN											0	0	0	0.015359	0	34	89				
ADK	132	broad.mit.edu	37	10	76285071	76285071	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr10:76285071G>A	uc001jwi.2	+	7	685	c.613G>A	c.(613-615)GAA>AAA	p.E205K	ADK_uc010qlb.1_Intron|ADK_uc001jwj.2_Missense_Mutation_p.E188K|ADK_uc010qlc.1_Missense_Mutation_p.E170K|ADK_uc001jwl.2_5'UTR	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	205					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CCATGCTTCTGAAAACAACAG	0.368		NaN											0	0	0	0.01441	0	87	207				
GALNTL4	374378	broad.mit.edu	37	11	11394086	11394086	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:11394086G>A	uc001mjo.2	-	6	1489	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	356	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CCACATTCTCGCCCCCGTAGA	0.602		NaN											0	0	0	0.001984	0	6	57				
OR8H1	219469	broad.mit.edu	37	11	56058521	56058521	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:56058521G>T	uc010rje.1	-	1	18	c.18C>A	c.(16-18)AAC>AAA	p.N6K		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GCACATTTGTGTTATTTCTTC	0.358		NaN											1	0	3.73988e-18	0.00632	4.21274e-18	28	115				
CCDC88B	283234	broad.mit.edu	37	11	64123092	64123092	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:64123092A>G	uc001nzy.2	+	26	4411	c.4367A>G	c.(4366-4368)AAC>AGC	p.N1456S	CCDC88B_uc001oaa.2_Missense_Mutation_p.T561A|CCDC88B_uc001oab.1_Missense_Mutation_p.N340S|CCDC88B_uc001oac.2_Missense_Mutation_p.T72A	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1456					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						ACAGATGCCAACCGAGAGGGT	0.547		NaN											0	0	0	0.004482	0	8	49				
SIPA1	6494	broad.mit.edu	37	11	65417472	65417472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:65417472C>A	uc001ofb.2	+	13	2965	c.2798C>A	c.(2797-2799)TCG>TAG	p.S933*	SIPA1_uc010rom.1_Nonsense_Mutation_p.S831*|SIPA1_uc001ofd.2_Nonsense_Mutation_p.S933*	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	933					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CAGGCCATCTCGGAGATTGCC	0.647		NaN											1	0	0.000602214	0.014758	0.000634592	5	76				
TSKU	25987	broad.mit.edu	37	11	76506922	76506922	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:76506922G>A	uc001oxt.2	+	2	434	c.262G>A	c.(262-264)GGC>AGC	p.G88S		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	88	LRR 2.					extracellular region					0	Ovarian(111;0.112)					GACGTTGGCTGGCCTGGATCT	0.627		NaN											0	0	0	0.004482	0	8	70				
GRIA4	2893	broad.mit.edu	37	11	105774631	105774631	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr11:105774631G>C	uc001pix.2	+	8	1423	c.977G>C	c.(976-978)GGA>GCA	p.G326A	GRIA4_uc001piu.1_Missense_Mutation_p.G326A|GRIA4_uc001piw.2_Missense_Mutation_p.G326A|GRIA4_uc009yxk.1_Missense_Mutation_p.G326A	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	326	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCAAGGAGAGGAAATGCTGGG	0.443		NaN											0	0	0	0.009718	0	45	68				
SPATS2	65244	broad.mit.edu	37	12	49888683	49888683	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888683G>A	uc001rud.2	+	7	1413	c.424G>A	c.(424-426)GAG>AAG	p.E142K	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E142K|SPATS2_uc001ruf.2_Missense_Mutation_p.E142K|SPATS2_uc001rug.2_Missense_Mutation_p.E142K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	142						cytoplasm				breast(1)	1						CAATGACACTGAGTCTGTGGA	0.468		NaN											0	0	0	0.008871	0	21	57				
SPATS2	65244	broad.mit.edu	37	12	49888713	49888713	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:49888713G>A	uc001rud.2	+	7	1443	c.454G>A	c.(454-456)GAG>AAG	p.E152K	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E152K|SPATS2_uc001ruf.2_Missense_Mutation_p.E152K|SPATS2_uc001rug.2_Missense_Mutation_p.E152K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	152						cytoplasm				breast(1)	1						TGAAGGTTTGGAGACACTTTC	0.453		NaN											0	0	0	0.014323	0	22	69				
OR6C70	390327	broad.mit.edu	37	12	55863607	55863607	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:55863607C>T	uc010spn.1	-	1	316	c.316G>A	c.(316-318)GGG>AGG	p.G106R		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTGTAACCCCCAAGAATATG	0.393		NaN											0	0	0	0.004482	0	8	52				
LRP1	4035	broad.mit.edu	37	12	57596297	57596297	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:57596297A>G	uc001snd.2	+	68	11154	c.10688A>G	c.(10687-10689)GAC>GGC	p.D3563G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3563	LDL-receptor class A 26.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGCGGTGACAACTCCGAT	0.652		NaN											0	0	0	0.004672	0	3	43				
TCP11L2	255394	broad.mit.edu	37	12	106712243	106712243	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:106712243G>A	uc001tln.2	+	4	588	c.414_splice	c.e4+1	p.E138_splice	TCP11L2_uc001tll.2_Splice_Site_p.E138_splice|TCP11L2_uc001tlm.2_Splice_Site_p.E138_splice	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2											ovary(3)	3						AATCAGAGAGGCAAGTTGCTT	0.294		NaN											0	0	0	0.006214	0	9	128				
GPN3	51184	broad.mit.edu	37	12	110906002	110906002	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:110906002G>A	uc001tqr.2	-	1	63	c.7C>T	c.(7-9)CGG>TGG	p.R3W	GPN3_uc001tqs.2_Missense_Mutation_p.R3W|C12orf24_uc010sxz.1_5'Flank|C12orf24_uc009zvo.2_5'Flank|C12orf24_uc001tqt.2_5'Flank|C12orf24_uc001tqu.3_5'Flank|C12orf24_uc001tqv.3_5'Flank	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3 isoform 1	3						protein complex	GTP binding				0						TGCGCATACCGAGGCATGTTG	0.637		NaN											0	0	0	0.004656	0	26	88				
CLIP1	6249	broad.mit.edu	37	12	122825944	122825944	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:122825944C>T	uc001ucg.1	-	10	1913	c.1807G>A	c.(1807-1809)GAG>AAG	p.E603K	CLIP1_uc001uch.1_Missense_Mutation_p.E592K|CLIP1_uc001uci.1_Missense_Mutation_p.E557K|CLIP1_uc001ucj.1_Missense_Mutation_p.E293K|CLIP1_uc009zxo.1_Missense_Mutation_p.E159K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	603	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAATGACTCGTTCTCTTTG	0.468		NaN											0	0	0	0.012319	0	22	277				
HIP1R	9026	broad.mit.edu	37	12	123342728	123342728	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr12:123342728C>T	uc001udj.1	+	19	1954	c.1895C>T	c.(1894-1896)GCG>GTG	p.A632V	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	632					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCCGAGGCCGCGGGCATCCTG	0.687		NaN											0	0	0	0.01441	0	38	19				
TPTE2	93492	broad.mit.edu	37	13	20041439	20041439	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:20041439G>T	uc001umd.2	-	8	649	c.438C>A	c.(436-438)GCC>GCA	p.A146A	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	146	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCACAATAATGGCAGTATCTA	0.313		NaN											1	0	1.06961e-07	0.00308	1.16469e-07	7	51				
SACS	26278	broad.mit.edu	37	13	23929791	23929791	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:23929791G>A	uc001uon.2	-	8	1549	c.960C>T	c.(958-960)GTC>GTT	p.V320V	SACS_uc001uoo.2_Silent_p.V173V|SACS_uc001uop.1_Silent_p.V107V|SACS_uc001uoq.1_Silent_p.V173V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	320					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCCTCTCGGACATATAAGG	0.443		NaN											0	0	0	0.00499	0	16	55				
BRCA2	675	broad.mit.edu	37	13	32914782	32914782	+	Missense_Mutation	SNP	C	C	T	rs80358866		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:32914782C>T	uc001uub.1	+	11	6517	c.6290C>T	c.(6289-6291)ACG>ATG	p.T2097M		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2097					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTCACCTACGTCTAGACAA	0.348		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.003163	0	16	91				
THSD1	55901	broad.mit.edu	37	13	52971455	52971455	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:52971455C>T	uc001vgo.2	-	3	1478	c.933G>A	c.(931-933)GGG>GGA	p.G311G	THSD1_uc001vgp.2_Silent_p.G311G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	311	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTTATTCTTCCCCATGTCAA	0.448		NaN											0	0	0	0.00308	0	7	129				
OLFM4	10562	broad.mit.edu	37	13	53624617	53624617	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:53624617T>G	uc001vhl.2	+	5	1244	c.1244T>G	c.(1243-1245)CTT>CGT	p.L415R	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	415	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GACACCACACTTCAGGTGCTA	0.428		NaN											0	0	0	0.013726	0	32	140				
RNF113B	140432	broad.mit.edu	37	13	98828998	98828998	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr13:98828998C>T	uc001vnk.2	-	1	524	c.493G>A	c.(493-495)GGC>AGC	p.G165S	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	165							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GAGGAGTTGCCCATGGACGTG	0.647		NaN											0	0	0	0.001168	0	5	142				
OR4L1	122742	broad.mit.edu	37	14	20528885	20528885	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:20528885A>C	uc001vwn.1	+	1	682	c.682A>C	c.(682-684)AAA>CAA	p.K228Q		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTACCAAAAAAATCATCACA	0.448		NaN											0	0	0	0.014758	0	5	143				
SYNE2	23224	broad.mit.edu	37	14	64514796	64514796	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64514796C>T	uc001xgm.2	+	46	7530	c.7300C>T	c.(7300-7302)CGG>TGG	p.R2434W	SYNE2_uc001xgl.2_Missense_Mutation_p.R2434W	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2434	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGATGAGCGGAAAGTCAA	0.323		NaN											0	0	0	0.008291	0	10	48				
SYNE2	23224	broad.mit.edu	37	14	64519446	64519446	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:64519446G>C	uc001xgm.2	+	48	9045	c.8815G>C	c.(8815-8817)GAA>CAA	p.E2939Q	SYNE2_uc001xgl.2_Missense_Mutation_p.E2939Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2939	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAATGAAGTGGAACACAAGAT	0.343		NaN											0	0	0	0.013537	0	13	39				
SPTB	6710	broad.mit.edu	37	14	65253698	65253698	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:65253698C>T	uc001xht.2	-	15	3039	c.2985G>A	c.(2983-2985)AGG>AGA	p.R995R	SPTB_uc001xhr.2_Silent_p.R995R|SPTB_uc001xhs.2_Silent_p.R995R|SPTB_uc001xhu.2_Silent_p.R995R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	995	Spectrin 7.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGACAACTTCCTCTGGATGG	0.607		NaN											0	0	0	0.008361	0	29	82				
SMOC1	64093	broad.mit.edu	37	14	70490103	70490103	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:70490103G>T	uc001xls.1	+	11	1483	c.1230G>T	c.(1228-1230)CTG>CTT	p.L410L	SMOC1_uc001xlt.1_Silent_p.L410L	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	410	2 (Potential).|EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTGTGACCTGAACAAAGACA	0.517		NaN											1	0	5.96743e-59	0.01441	6.9208e-59	113	127				
C14orf43	91748	broad.mit.edu	37	14	74194193	74194193	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr14:74194193C>T	uc001xot.2	-	5	2913	c.2130G>A	c.(2128-2130)GTG>GTA	p.V710V	C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Silent_p.V710V|C14orf43_uc010tud.1_Silent_p.V710V|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CCTCCCCCATCACAGAGAGGA	0.607		NaN											0	0	0	0.010729	0	10	40				
OTUD7A	161725	broad.mit.edu	37	15	31795993	31795993	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:31795993C>T	uc001zfq.2	-	7	994	c.901G>A	c.(901-903)GAG>AAG	p.E301K	OTUD7A_uc001zfr.2_Missense_Mutation_p.E308K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	301	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCAGGCTCTCGTACACGGGG	0.493		NaN											0	0	0	0.01441	0	52	69				
RYR3	6263	broad.mit.edu	37	15	34105682	34105682	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:34105682G>A	uc001zhi.2	+	74	10474	c.10404G>A	c.(10402-10404)TTG>TTA	p.L3468L	RYR3_uc010bar.2_Silent_p.L3463L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3468					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACAGCCTTTGAGGTCCAAGA	0.532		NaN											0	0	0	0.005443	0	26	97				
UNC13C	440279	broad.mit.edu	37	15	54306223	54306223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:54306223C>T	uc002ack.2	+	1	1123	c.1123C>T	c.(1123-1125)CGA>TGA	p.R375*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	375					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAAAGCCTCGACCCATACT	0.378		NaN											0	0	0	0.008361	0	29	26				
SNX22	79856	broad.mit.edu	37	15	64446670	64446670	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:64446670C>G	uc002anc.1	+	7	604	c.545C>G	c.(544-546)GCG>GGG	p.A182G	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	182					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CAGCCAAAGGCGGCCTGTCAC	0.562		NaN											0	0	0	0.005524	0	34	199				
LBXCOR1	390598	broad.mit.edu	37	15	68121571	68121571	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:68121571C>T	uc002aqy.1	+	4	2239	c.2239C>T	c.(2239-2241)CCC>TCC	p.P747S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	791					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GGCGCTGGGGCCCGCGGCCTC	0.706		NaN											0	0	0	0.004672	0	2	3				
MYO9A	4649	broad.mit.edu	37	15	72338071	72338071	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:72338071T>C	uc002atl.3	-	2	1307	c.834A>G	c.(832-834)GTA>GTG	p.V278V	MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Silent_p.V278V|MYO9A_uc002atn.1_Silent_p.V278V	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	278	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TTACCTCAAGTACTGGTCCAG	0.303		NaN											0	0	0	0.019004	0	35	43				
MAN2A2	4122	broad.mit.edu	37	15	91448546	91448546	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:91448546G>C	uc010bnz.2	+	3	313	c.198G>C	c.(196-198)GAG>GAC	p.E66D	MAN2A2_uc010boa.2_Missense_Mutation_p.E108D|MAN2A2_uc002bqc.2_Missense_Mutation_p.E66D|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	66	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGAACCATGAGATTATCAGCC	0.552		NaN											0	0	0	0.01441	0	69	65				
TARSL2	123283	broad.mit.edu	37	15	102211921	102211921	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr15:102211921C>T	uc002bxm.2	-	14	1874	c.1819G>A	c.(1819-1821)GAA>AAA	p.E607K	TARSL2_uc002bxl.2_Missense_Mutation_p.E152K|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	607					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACGGTTCTCCAAAGTCC	0.348		NaN											0	0	0	0.014758	0	4	83				
PTX4	390667	broad.mit.edu	37	16	1535988	1535988	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:1535988G>A	uc010uvf.1	-	3	1374	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	463	Pentaxin.					extracellular region	metal ion binding				0						GCACAAATCCGCCTGCTAGTG	0.657		NaN											0	0	0	0.004672	0	3	33				
CDR2	1039	broad.mit.edu	37	16	22385609	22385609	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:22385609C>G	uc002dkn.2	-	1	330	c.22G>C	c.(22-24)GAG>CAG	p.E8Q		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	8						nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		TCAAACTCCTCTACCAGGTTT	0.547		NaN											0	0	0	0.01892	0	22	22				
LAT	27040	broad.mit.edu	37	16	28997204	28997204	+	Missense_Mutation	SNP	G	G	A	rs150635404	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:28997204G>A	uc002dsd.2	+	3	510	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.R89Q|LAT_uc002dsb.2_Missense_Mutation_p.R53Q|LAT_uc002dsc.2_Missense_Mutation_p.R53Q|LAT_uc010vdk.1_Missense_Mutation_p.R53Q|LAT_uc010vdl.1_Missense_Mutation_p.R53Q	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	53	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				CAGTTCAAACGGCCTCGTGAG	0.607		NaN											0	0	0	0.01441	0	107	174				
ZFHX3	463	broad.mit.edu	37	16	72984605	72984605	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:72984605G>A	uc002fck.2	-	3	3652	c.2979C>T	c.(2977-2979)ACC>ACT	p.T993T	ZFHX3_uc002fcl.2_Silent_p.T79T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	993	C2H2-type 7; atypical.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CCTTGAGCTGGGTGTTGTAGC	0.607		NaN											0	0	0	0.011902	0	43	33				
MYH1	4619	broad.mit.edu	37	17	10411687	10411687	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:10411687C>T	uc002gmo.2	-	16	1984	c.1890G>A	c.(1888-1890)GCG>GCA	p.A630A	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	630	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TACCTGCTTCCGCTCCCGTTG	0.338		NaN											0	0	0	0.01441	0	105	139				
DNAH9	1770	broad.mit.edu	37	17	11622799	11622799	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:11622799G>T	uc002gne.2	+	27	5769	c.5701G>T	c.(5701-5703)GAT>TAT	p.D1901Y	DNAH9_uc010coo.2_Missense_Mutation_p.D1195Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1901	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGCAGATGGATTACAAGGT	0.612		NaN											1	0	6.31663e-08	0.003163	6.91653e-08	14	76				
PIGW	284098	broad.mit.edu	37	17	34893433	34893433	+	Silent	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:34893433C>G	uc002hmy.1	+	2	526	c.483C>G	c.(481-483)CTC>CTG	p.L161L	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L161L	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	161					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACTGAGCTCTATGGGACAG	0.448		NaN											0	0	0	0.00623	0	38	189				
CNTNAP1	8506	broad.mit.edu	37	17	40837383	40837383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:40837383C>T	uc002iay.2	+	5	876	c.660C>T	c.(658-660)GGC>GGT	p.G220G	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	220	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGCCCAGGGCGACTACGTGA	0.662		NaN											0	0	0	0.00874	0	39	39				
NBR1	4077	broad.mit.edu	37	17	41342744	41342744	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:41342744C>G	uc010czd.2	+	9	954	c.814C>G	c.(814-816)CAC>GAC	p.H272D	NBR1_uc010diz.2_Missense_Mutation_p.H272D|NBR1_uc010whu.1_Missense_Mutation_p.H272D|NBR1_uc010whv.1_Missense_Mutation_p.H272D|NBR1_uc010whw.1_Missense_Mutation_p.H251D|NBR1_uc010whx.1_Missense_Mutation_p.H81D	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	272					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACCGTTCTGTCACTCAAAGTA	0.483		NaN											0	0	0	0.006999	0	38	30				
ARSG	22901	broad.mit.edu	37	17	66366656	66366656	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr17:66366656A>G	uc002jhc.2	+	8	1769	c.973A>G	c.(973-975)ACT>GCT	p.T325A	ARSG_uc002jhb.1_Missense_Mutation_p.T161A	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	325					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTTGGCAAACTCGTCAAGG	0.557		NaN											0	0	0	0.009096	0	4	64				
KIAA1468	57614	broad.mit.edu	37	18	59949606	59949606	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr18:59949606C>G	uc002lil.2	+	25	3397	c.3182C>G	c.(3181-3183)TCT>TGT	p.S1061C	KIAA1468_uc010xel.1_Missense_Mutation_p.S1061C|KIAA1468_uc002lim.2_Missense_Mutation_p.S739C	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1061							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GACCAACATTCTTTGCATACA	0.393		NaN											0	0	0	0.01441	0	72	78				
LDLR	3949	broad.mit.edu	37	19	11224428	11224428	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:11224428C>T	uc002mqk.3	+	10	1744	c.1576C>T	c.(1576-1578)CCT>TCT	p.P526S	LDLR_uc010xlk.1_Missense_Mutation_p.P526S|LDLR_uc010xll.1_Missense_Mutation_p.P485S|LDLR_uc010xlm.1_Missense_Mutation_p.P379S|LDLR_uc010xln.1_Missense_Mutation_p.P399S|LDLR_uc010xlo.1_Missense_Mutation_p.P358S	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	526	Extracellular (Potential).|LDL-receptor class B 3.		P -> S (in Cincinnati-3).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGGTGGATCCTGTTCATGG	0.522		NaN											0	0	0	0.009718	0	43	46				
PLAUR	5329	broad.mit.edu	37	19	44169567	44169567	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169567C>G	uc002oxf.1	-	3	441	c.211G>C	c.(211-213)GAG>CAG	p.E71Q	PLAUR_uc002oxd.1_Missense_Mutation_p.E71Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E66Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E71Q	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	71	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTGGTCTTCTCTGAGTGGGTA	0.547		NaN											0	0	0	0.015359	0	27	82				
PLAUR	5329	broad.mit.edu	37	19	44169588	44169588	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44169588C>G	uc002oxf.1	-	3	420	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	PLAUR_uc002oxd.1_Missense_Mutation_p.E64Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E59Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E64Q	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	64	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGCTTTTCTCCACCAGCTCC	0.542		NaN											0	0	0	0.007291	0	26	84				
ZNF221	7638	broad.mit.edu	37	19	44471003	44471003	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:44471003A>G	uc002oxx.2	+	6	1677	c.1349A>G	c.(1348-1350)TAT>TGT	p.Y450C	ZNF221_uc010ejb.1_Missense_Mutation_p.Y450C|ZNF221_uc010xws.1_Missense_Mutation_p.Y450C	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				GAAAAGCCATATAACTGTGAG	0.423		NaN											0	0	0	0.006214	0	10	83				
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:54483190T>G	uc002qcs.1	+	3	540	c.434T>G	c.(433-435)GTG>GGG	p.V145G	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	146	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647		NaN											0	0	0	0.009096	0	4	21				
PXDN	7837	broad.mit.edu	37	2	1652125	1652125	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:1652125G>T	uc002qxa.2	-	17	3491	c.3427C>A	c.(3427-3429)CTG>ATG	p.L1143M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1143					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGGAGAACAGCCGCTCCGTG	0.652		NaN											1	0	0.00909568	0.009096	0.00943256	3	31				
C2orf44	80304	broad.mit.edu	37	2	24253912	24253912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:24253912G>C	uc002rep.2	-	4	2188	c.2057C>G	c.(2056-2058)TCT>TGT	p.S686C	C2orf44_uc010eya.2_3'UTR	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	686							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGAAAAAGAGTCTCTGAA	0.473		NaN											0	0	0	0.016723	0	14	64				
USP34	9736	broad.mit.edu	37	2	61415533	61415533	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61415533C>G	uc002sbe.2	-	80	10367	c.10345G>C	c.(10345-10347)GAA>CAA	p.E3449Q	USP34_uc002sbd.2_Missense_Mutation_p.E251Q	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3449					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TCTTTAAATTCTTTACAATCG	0.418		NaN											0	0	0	0.007291	0	30	118				
USP34	9736	broad.mit.edu	37	2	61607465	61607465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:61607465G>A	uc002sbe.2	-	7	875	c.853C>T	c.(853-855)CGA>TGA	p.R285*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	285					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GCACTCTGTCGTAACTCCTGA	0.368		NaN											0	0	0	0.006214	0	8	74				
TANC1	85461	broad.mit.edu	37	2	160033027	160033027	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:160033027C>A	uc002uag.2	+	13	2174	c.1900C>A	c.(1900-1902)CAG>AAG	p.Q634K	TANC1_uc010fol.1_Missense_Mutation_p.Q528K|TANC1_uc010zcm.1_Missense_Mutation_p.Q626K|TANC1_uc010fom.1_Missense_Mutation_p.Q440K|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	634						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AGCAAATTTTCAGGTAACAAA	0.323		NaN											1	0	1.67942e-08	0.006122	1.84924e-08	16	55				
TTN	7273	broad.mit.edu	37	2	179616159	179616159	+	Silent	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:179616159A>C	uc002unb.2	-	46	11192	c.10968T>G	c.(10966-10968)ACT>ACG	p.T3656T	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATGTATAGTTCTCATCA	0.348		NaN											0	0	0	0.001168	0	6	121				
ITGA4	3676	broad.mit.edu	37	2	182359492	182359492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:182359492G>A	uc002unu.2	+	12	2055	c.1292G>A	c.(1291-1293)GGA>GAA	p.G431E		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	431	FG-GAP 7.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGTATGTTTGGACAGTCTATA	0.308		NaN											0	0	0	0.00308	0	5	148				
PMS1	5378	broad.mit.edu	37	2	190719590	190719590	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:190719590A>G	uc002urh.3	+	9	2121	c.1592A>G	c.(1591-1593)AAT>AGT	p.N531S	PMS1_uc010zga.1_Missense_Mutation_p.N492S|PMS1_uc010zgb.1_Missense_Mutation_p.N470S|PMS1_uc002urk.3_Missense_Mutation_p.N492S|PMS1_uc002uri.3_Missense_Mutation_p.N531S|PMS1_uc010zgc.1_Missense_Mutation_p.N355S|PMS1_uc010zgd.1_Missense_Mutation_p.N355S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.N492S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N316S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.N199S	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	531					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTAAGTAATAATAATTATCCA	0.284		NaN	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					0	0	0	0.013726	0	33	33				
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:198265453C>T	uc002uue.2	-	18	2752	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	902					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318		NaN											0	0	0	0.01441	0	87	37				
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:200137185G>A	uc002uuy.1	-	11	2768	c.1951C>T	c.(1951-1953)CAG>TAG	p.Q651*	SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651*	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGATCCAGCTGAGCCGAAAGA	0.542		NaN											0	0	0	0.007413	0	20	108				
VIL1	7429	broad.mit.edu	37	2	219290520	219290520	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:219290520C>T	uc002via.2	+	4	398	c.333C>T	c.(331-333)TTC>TTT	p.F111F	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.F111F|VIL1_uc002vic.1_Silent_p.F111F	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	111	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCTACTTCAAGCAAGGCC	0.612		NaN											0	0	0	0.006999	0	39	30				
SLC23A3	151295	broad.mit.edu	37	2	220034109	220034109	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220034109G>C	uc010zks.1	-	3	451	c.340C>G	c.(340-342)CCA>GCA	p.P114A	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P114A|SLC23A3_uc010fwb.2_Missense_Mutation_p.P114A|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	114	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTAAGGATGGAGCCTGGACA	0.597		NaN											0	0	0	0.01441	0	93	60				
OBSL1	23363	broad.mit.edu	37	2	220422740	220422740	+	Missense_Mutation	SNP	G	G	A	rs143517287	by1000genomes	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:220422740G>A	uc010fwk.2	-	11	3652	c.3595C>T	c.(3595-3597)CGG>TGG	p.R1199W	OBSL1_uc002vmh.1_Missense_Mutation_p.R190W|OBSL1_uc010zli.1_Missense_Mutation_p.R98W|OBSL1_uc010fwl.1_Missense_Mutation_p.R674W	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1199	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCGCCAGCCCGGGACAGTTCA	0.667		NaN											0	0	0	0.010729	0	11	15				
CAPN10	11132	broad.mit.edu	37	2	241536312	241536312	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:241536312C>T	uc002vzk.1	+	9	1880	c.1696C>T	c.(1696-1698)CGG>TGG	p.R566W	CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.R438W|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	566	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCAGCACTGCCGGCCCAGTGA	0.647		NaN											0	0	0	0.00632	0	27	25				
GZF1	64412	broad.mit.edu	37	20	23351021	23351021	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:23351021G>C	uc010gdb.2	+	7	2253	c.2079G>C	c.(2077-2079)CTG>CTC	p.L693L	GZF1_uc002wsy.2_Silent_p.L693L|GZF1_uc010zsq.1_Silent_p.L217L|GZF1_uc010zsr.1_Silent_p.L202L|GZF1_uc002wsz.2_Silent_p.L693L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	693					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTAGCGAGCTGACCCCACAGA	0.547		NaN											0	0	0	0.006999	0	40	95				
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:33577935C>T	uc002xbi.1	+	19	2104	c.2012C>T	c.(2011-2013)GCG>GTG	p.A671V	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	629	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547		NaN											0	0	0	0.001168	0	6	224				
SRC	6714	broad.mit.edu	37	20	36012573	36012573	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:36012573G>A	uc002xgx.2	+	4	466	c.17G>A	c.(16-18)AGC>AAC	p.S6N	SRC_uc002xgy.2_Missense_Mutation_p.S6N	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	6					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGCAACAAGAGCAAGCCCAAG	0.701		NaN											0	0	0	0.016723	0	10	10				
LPIN3	64900	broad.mit.edu	37	20	39986944	39986944	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:39986944C>T	uc002xjx.2	+	18	2351	c.2260C>T	c.(2260-2262)CTG>TTG	p.L754L	LPIN3_uc010ggh.2_Silent_p.L755L|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	754	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GCAGCTGTTTCTGCCCCACGG	0.602		NaN											0	0	0	0.007835	0	37	49				
ZNF335	63925	broad.mit.edu	37	20	44579219	44579219	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:44579219G>C	uc002xqw.2	-	21	3328	c.3205C>G	c.(3205-3207)CAC>GAC	p.H1069D	ZNF335_uc002xqv.2_Missense_Mutation_p.H181D|ZNF335_uc010zxk.1_Missense_Mutation_p.H914D	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1069	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGGCTTGAGTGCTGTGCCATG	0.597		NaN											0	0	0	0.00632	0	30	219				
TCFL5	10732	broad.mit.edu	37	20	61490866	61490866	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:61490866A>C	uc002ydp.2	-	3	937	c.844T>G	c.(844-846)TCA>GCA	p.S282A	TCFL5_uc002ydo.2_Missense_Mutation_p.S55A|TCFL5_uc002ydq.2_Missense_Mutation_p.S282A	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 protein	282					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)					ACAGAACATGAGTTACTAGAA	0.368		NaN											0	0	0	0.004007	0	17	99				
OPRL1	4987	broad.mit.edu	37	20	62724217	62724217	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:62724217C>T	uc002yic.2	+	3	546	c.144C>T	c.(142-144)CTC>CTT	p.L48L	OPRL1_uc002yid.2_Silent_p.L48L|OPRL1_uc002yif.3_Silent_p.L48L	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	48	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCTGCCCCTCGGGCTCAAGG	0.652		NaN											0	0	0	0.01441	0	61	95				
KRTAP21-1	337977	broad.mit.edu	37	21	32127524	32127524	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:32127524T>C	uc011adi.1	-	1	173	c.173A>G	c.(172-174)TAT>TGT	p.Y58C		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	58						intermediate filament				breast(1)	1						GCCAGagccatatccacagcc	0.219		NaN											0	0	0	0.014758	0	5	147				
KRTAP12-3	386683	broad.mit.edu	37	21	46078007	46078007	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr21:46078007C>T	uc002zft.2	+	1	159	c.111C>T	c.(109-111)CCC>CCT	p.P37P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	keratin associated protein 12-3	37	5.|14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)	1						TGTGCATGCCCGTGAGCTGCA	0.652		NaN											0	0	0	0.00499	0	16	220				
FBXO7	25793	broad.mit.edu	37	22	32889255	32889255	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr22:32889255G>A	uc003amq.2	+	7	1414	c.1131G>A	c.(1129-1131)CTG>CTA	p.L377L	FBXO7_uc003amr.2_Silent_p.L263L|FBXO7_uc003ams.2_Silent_p.L221L|FBXO7_uc003amt.2_Silent_p.L298L|FBXO7_uc003amu.2_Silent_p.L263L|FBXO7_uc003amv.2_Silent_p.L76L	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	377					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TTTTATATCTGCGTGATTTTC	0.413		NaN											0	0	0	0.008291	0	10	200				
CNTN6	27255	broad.mit.edu	37	3	1363500	1363500	+	Missense_Mutation	SNP	G	G	T	rs149799168	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:1363500G>T	uc003boz.2	+	8	1195	c.928G>T	c.(928-930)GGT>TGT	p.G310C	CNTN6_uc011asj.1_Missense_Mutation_p.G238C|CNTN6_uc003bpa.2_Missense_Mutation_p.G310C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	310					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCTTGCAAAGGGTCAACTCAT	0.358		NaN											1	0	1.22574e-08	0.014323	1.35731e-08	21	98				
EFHB	151651	broad.mit.edu	37	3	19938244	19938244	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:19938244G>A	uc003cbl.3	-	9	1856	c.1660C>T	c.(1660-1662)CAC>TAC	p.H554Y	EFHB_uc003cbm.2_Missense_Mutation_p.H424Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	554					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TTCTTCAGGTGATGCCGAACT	0.458		NaN											0	0	0	0.013726	0	36	72				
RAB5A	5868	broad.mit.edu	37	3	20019815	20019815	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:20019815A>C	uc003cbn.2	+	5	987	c.452A>C	c.(451-453)TAT>TCT	p.Y151S	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.Y137S	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	151					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						GCACAGTCCTATGCAGATGAC	0.308		NaN											0	0	0	0.01441	0	58	102				
QARS	5859	broad.mit.edu	37	3	49135633	49135633	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49135633G>A	uc003cvx.2	-	22	2148	c.2143C>T	c.(2143-2145)CTG>TTG	p.L715L	QARS_uc011bcc.1_Silent_p.L168L|QARS_uc011bcd.1_Silent_p.L570L|QARS_uc003cvy.2_Silent_p.L570L|QARS_uc011bce.1_Silent_p.L704L	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	715					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACCAGGTTCAGGTCACTTAAA	0.552		NaN											0	0	0	0.004007	0	15	130				
MST1	4485	broad.mit.edu	37	3	49721756	49721756	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49721756C>T	uc003cxg.2	-	17	2079	c.2007G>A	c.(2005-2007)GGG>GGA	p.G669G		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	655	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCACAGGCCCCCACAGGGG	0.567		NaN											0	0	0	0.01441	0	56	62				
RNF123	63891	broad.mit.edu	37	3	49736242	49736242	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49736242C>G	uc003cxh.2	+	9	711	c.625C>G	c.(625-627)CTG>GTG	p.L209V	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	209	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGATGGCACTCTGTCCTTCTG	0.632		NaN											0	0	0	0.012213	0	34	44				
AMIGO3	386724	broad.mit.edu	37	3	49756064	49756064	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:49756064G>C	uc003cxj.2	-	1	1175	c.835C>G	c.(835-837)CTT>GTT	p.L279V	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	279	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTAGGCCAAGAGCTGGGGCC	0.647		NaN											0	0	0	0.005443	0	26	34				
GNAT1	2779	broad.mit.edu	37	3	50231195	50231195	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50231195C>T	uc003cym.2	+	5	575	c.459C>T	c.(457-459)TCC>TCT	p.S153S	GNAT1_uc003cyl.2_Silent_p.S153S	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	153					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTACCTCTCCGACCTGGAGC	0.512		NaN											0	0	0	0.001984	0	7	16				
CACNA2D2	9254	broad.mit.edu	37	3	50402325	50402325	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:50402325G>T	uc003daq.2	-	38	3344	c.3306C>A	c.(3304-3306)AAC>AAA	p.N1102K	CACNA2D2_uc003dap.2_Missense_Mutation_p.N1095K|CACNA2D2_uc003dao.2_Missense_Mutation_p.N175K	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	1102	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCACTGTCGCGTTGTAGTCGA	0.592		NaN											1	0	1.28384e-07	0.012319	1.39023e-07	19	25				
PLSCR4	57088	broad.mit.edu	37	3	145917695	145917695	+	Missense_Mutation	SNP	G	G	A	rs34036393		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:145917695G>A	uc010huy.2	-	6	858	c.529C>T	c.(529-531)CGG>TGG	p.R177W	PLSCR4_uc010huz.2_Missense_Mutation_p.R177W|PLSCR4_uc003evt.3_Missense_Mutation_p.R177W|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	177	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						TCAGTGACCCGGAGGACGAAG	0.483		NaN											0	0	0	0.001168	0	6	71				
ECE2	9718	broad.mit.edu	37	3	184009213	184009213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:184009213G>A	uc003fni.3	+	18	2499	c.2461G>A	c.(2461-2463)GTG>ATG	p.V821M	ECE2_uc011brh.1_3'UTR|ECE2_uc003fnl.3_Missense_Mutation_p.V749M|ECE2_uc003fnm.3_Missense_Mutation_p.V703M|ECE2_uc003fnk.3_Missense_Mutation_p.V674M|ECE2_uc011bri.1_Missense_Mutation_p.V736M	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	821	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTTCTTCGTGGGATTTGC	0.587		NaN											0	0	0	0.01892	0	21	85				
MUC4	4585	broad.mit.edu	37	3	195477929	195477929	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:195477929C>T	uc011bto.1	-	24	15778	c.15318G>A	c.(15316-15318)TCG>TCA	p.S5106S	MUC4_uc010hzq.2_Silent_p.S91S|MUC4_uc003fuz.2_Silent_p.S832S|MUC4_uc003fva.2_Silent_p.S714S|MUC4_uc003fvb.2_Silent_p.S750S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.S750S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.S714S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S798S|MUC4_uc011bti.1_Silent_p.S798S|MUC4_uc011btj.1_Silent_p.S975S|MUC4_uc011btk.1_Silent_p.S714S|MUC4_uc011btl.1_Silent_p.S743S|MUC4_uc011btm.1_Silent_p.S923S|MUC4_uc011btn.1_Silent_p.S714S|MUC4_uc003fvo.2_Silent_p.S998S|MUC4_uc003fvp.2_Silent_p.S947S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1991					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGAACTCCGAGATGACCA	0.652		NaN											0	0	0	0.010729	0	11	91				
POLN	353497	broad.mit.edu	37	4	2130948	2130948	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:2130948C>A	uc003ger.2	-	16	1825	c.1825G>T	c.(1825-1827)GCC>TCC	p.A609S	POLN_uc010icg.1_Missense_Mutation_p.A57S|POLN_uc010ich.1_Missense_Mutation_p.A141S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	609					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACAAACATGGCCCTCGGGGAG	0.403		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					1	0	2.24893e-16	0.009718	2.5188e-16	37	61				
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:3451002C>T	uc003ghc.2	+	14	1827	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	HGFAC_uc010icw.2_Silent_p.G615G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	608	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677		NaN											0	0	0	0.015359	0	32	70				
CNGA1	1259	broad.mit.edu	37	4	47939675	47939675	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:47939675G>A	uc003gxt.3	-	11	1102	c.836C>T	c.(835-837)TCT>TTT	p.S279F	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.S348F	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	279	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AAACATACGAGAGAACCGTAA	0.358		NaN											0	0	0	0.015359	0	37	78				
EPHA5	2044	broad.mit.edu	37	4	66201800	66201800	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:66201800A>T	uc003hcy.2	-	16	2895	c.2702T>A	c.(2701-2703)ATG>AAG	p.M901K	EPHA5_uc003hcx.2_Missense_Mutation_p.M833K|EPHA5_uc003hcz.2_Missense_Mutation_p.M879K|EPHA5_uc011cah.1_Missense_Mutation_p.M902K|EPHA5_uc011cai.1_Missense_Mutation_p.M880K|EPHA5_uc003hda.2_Missense_Mutation_p.M902K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	901	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						AGGACAATCCATGGGGCTTGG	0.448		NaN								TSP Lung(17;0.13)			0	0	0	0.009096	0	4	66				
USO1	8615	broad.mit.edu	37	4	76692248	76692248	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:76692248G>C	uc003hiu.2	+	6	688	c.513G>C	c.(511-513)TTG>TTC	p.L171F	USO1_uc003hiv.2_Missense_Mutation_p.L6F|USO1_uc003hiw.2_Missense_Mutation_p.L6F	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	171	Globular head.|ARM 3.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAAGATTGATGGACTTAC	0.308		NaN											0	0	0	0.013537	0	11	34				
BMP2K	55589	broad.mit.edu	37	4	79763561	79763561	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:79763561G>T	uc003hlk.2	+	4	592	c.426G>T	c.(424-426)ATG>ATT	p.M142I	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.M142I	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	142	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						TGAATCAAATGAATAAGAAGC	0.343		NaN											1	0	0.000157383	0.00308	0.000167647	7	45				
ANK2	287	broad.mit.edu	37	4	114251495	114251495	+	Silent	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:114251495T>C	uc003ibe.3	+	27	3094	c.2994T>C	c.(2992-2994)TGT>TGC	p.C998C	ANK2_uc003ibd.3_Silent_p.C989C|ANK2_uc003ibf.3_Silent_p.C998C|ANK2_uc011cgc.1_Silent_p.C207C|ANK2_uc003ibg.3_Silent_p.C26C|ANK2_uc003ibc.2_Silent_p.C974C|ANK2_uc011cgb.1_Silent_p.C1013C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	998	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCGGAAATGTACTGCTCCAA	0.537		NaN											0	0	0	0.014758	0	5	60				
DCHS2	54798	broad.mit.edu	37	4	155160322	155160322	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:155160322C>T	uc003inw.2	-	24	6127	c.6127G>A	c.(6127-6129)GGC>AGC	p.G2043S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2043	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAACTCACCATTCTTAGGA	0.368		NaN											0	0	0	0.004482	0	6	45				
GUCY1A3	2982	broad.mit.edu	37	4	156634276	156634276	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:156634276C>G	uc003iov.2	+	8	1649	c.1113C>G	c.(1111-1113)ATC>ATG	p.I371M	GUCY1A3_uc010iqc.2_Missense_Mutation_p.I371M|GUCY1A3_uc003iow.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqd.2_Missense_Mutation_p.I370M|GUCY1A3_uc003iox.2_Missense_Mutation_p.I371M|GUCY1A3_uc003ioz.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ioy.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqe.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.I371M	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	371					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCAAATGATCTACATTGTTG	0.423		NaN											0	0	0	0.00632	0	28	68				
MARCH1	55016	broad.mit.edu	37	4	164534483	164534483	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:164534483G>T	uc003iqs.1	-	5	1202	c.225C>A	c.(223-225)TCC>TCA	p.S75S	MARCH1_uc003iqr.1_Silent_p.S58S	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	75	RING-CH-type.				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCCTGAGTGGATGGACAGA	0.418		NaN											1	0	4.47668e-21	0.021523	5.07184e-21	24	91				
FBXO8	26269	broad.mit.edu	37	4	175158643	175158643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:175158643G>A	uc003itp.2	-	6	1730	c.880C>T	c.(880-882)CGC>TGC	p.R294C	FBXO8_uc003itq.2_Missense_Mutation_p.R253C	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	294					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TGAGCAGCGCGACGGGTATTT	0.383		NaN											0	0	0	0.006122	0	19	54				
HELT	391723	broad.mit.edu	37	4	185941788	185941788	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr4:185941788G>A	uc011ckq.1	+	4	846	c.846G>A	c.(844-846)CCG>CCA	p.P282P	HELT_uc011cko.1_Silent_p.P197P|HELT_uc003ixa.3_Silent_p.P196P|HELT_uc011ckp.1_Silent_p.P140P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	282	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCCAGTGCCGCTCGCTAGCC	0.741		NaN											0	0	0	0.009096	0	4	32				
DNAH5	1767	broad.mit.edu	37	5	13865842	13865842	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:13865842A>G	uc003jfd.2	-	27	4332	c.4290T>C	c.(4288-4290)TAT>TAC	p.Y1430Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1430	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAAGAATATCATAATAGCTAT	0.313		NaN							Kartagener_syndrome				0	0	0	0.020292	0	15	114				
MAST4	375449	broad.mit.edu	37	5	66462291	66462291	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:66462291G>A	uc003jut.1	+	28	6785	c.6717G>A	c.(6715-6717)CCG>CCA	p.P2239P	MAST4_uc003juw.2_Silent_p.P2167P|MAST4_uc003jux.2_5'UTR	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2431						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCCACCGACGGAGGCAG	0.652		NaN									OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	3	4				
SNCAIP	9627	broad.mit.edu	37	5	121786336	121786336	+	Silent	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:121786336T>A	uc003ksw.1	+	10	2000	c.1794T>A	c.(1792-1794)CTT>CTA	p.L598L	SNCAIP_uc011cwl.1_Silent_p.L156L|SNCAIP_uc003ksx.1_Silent_p.L645L|SNCAIP_uc003ksy.1_Silent_p.L232L|SNCAIP_uc003ksz.1_Silent_p.L232L|SNCAIP_uc010jcu.2_Silent_p.L194L|SNCAIP_uc011cwm.1_Silent_p.L232L|SNCAIP_uc003kta.1_Silent_p.L230L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L292L|SNCAIP_uc010jcx.1_Silent_p.L538L|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Silent_p.L114L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	598					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTCAGGTTCTTGGAAGCCTGT	0.478		NaN											0	0	0	0.014758	0	5	144				
PDLIM4	8572	broad.mit.edu	37	5	131607548	131607548	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:131607548G>A	uc003kwn.2	+	6	812	c.735G>A	c.(733-735)CCG>CCA	p.P245P	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Silent_p.P353P	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	245							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGGCGCTCCGCTGAGCGGCC	0.726		NaN											0	0	0	0.00308	0	8	21				
SEC24A	10802	broad.mit.edu	37	5	134041037	134041037	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041037C>A	uc003kzs.2	+	17	2749	c.2461C>A	c.(2461-2463)CAT>AAT	p.H821N	SEC24A_uc011cxu.1_Missense_Mutation_p.H585N	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	821					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCGTGTTCATACTTTGTG	0.373		NaN											1	0	4.17463e-26	0.01441	4.78495e-26	56	112				
SEC24A	10802	broad.mit.edu	37	5	134041067	134041067	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:134041067C>T	uc003kzs.2	+	17	2779	c.2491C>T	c.(2491-2493)CTG>TTG	p.L831L	SEC24A_uc011cxu.1_Silent_p.L595L	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	831					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTTTCGACTCTGAATGATGT	0.358		NaN											0	0	0	0.01441	0	61	128				
PCDHB1	29930	broad.mit.edu	37	5	140432966	140432966	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140432966G>T	uc003lik.1	+	1	1988	c.1911G>T	c.(1909-1911)ATG>ATT	p.M637I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	637	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACCCCATGATGCAGAAAT	0.433		NaN											1	0	2.17888e-05	0.006214	2.33366e-05	8	274				
PCDHGA1	56114	broad.mit.edu	37	5	140712541	140712541	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140712541C>T	uc003lji.1	+	1	2290	c.2290C>T	c.(2290-2292)CGG>TGG	p.R764W	PCDHGA1_uc011dan.1_Missense_Mutation_p.R764W	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	764	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGACTCGCGGAAGAGCCA	0.582		NaN											0	0	0	0.004482	0	7	222				
PCDHGB2	56103	broad.mit.edu	37	5	140741617	140741617	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:140741617C>T	uc003ljs.1	+	1	1915	c.1915C>T	c.(1915-1917)CGC>TGC	p.R639C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R639C|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	639	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGCCCGCCAGCGCCT	0.682		NaN											0	0	0	0.010729	0	11	20				
GPR151	134391	broad.mit.edu	37	5	145895383	145895383	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:145895383C>T	uc003lod.1	-	1	294	c.294G>A	c.(292-294)GCG>GCA	p.A98A		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	98	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGGAGTACGCCGTAGCTC	0.512		NaN											0	0	0	0.009535	0	31	99				
ODZ2	57451	broad.mit.edu	37	5	167689593	167689593	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr5:167689593G>C	uc010jjd.2	+	29	8076	c.8076G>C	c.(8074-8076)CAG>CAC	p.Q2692H	ODZ2_uc003lzr.3_Missense_Mutation_p.Q2462H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q2065H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1956H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGGCGAGACAGAGGGCCCTGG	0.657		NaN											0	0	0	0.004672	0	3	6				
RIPK1	8737	broad.mit.edu	37	6	3104493	3104493	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3104493G>C	uc010jni.2	+	8	1182	c.950G>C	c.(949-951)AGA>ACA	p.R317T	RIPK1_uc003muv.3_Missense_Mutation_p.R154T|RIPK1_uc003muw.3_Missense_Mutation_p.R252T|RIPK1_uc011dhs.1_Missense_Mutation_p.R271T|RIPK1_uc003mux.2_Missense_Mutation_p.R317T	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	317	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTTGTGAAGAGAATGCAGTCT	0.338		NaN											0	0	0	0.01441	0	56	51				
FAM50B	26240	broad.mit.edu	37	6	3850910	3850910	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:3850910G>A	uc003mvu.2	+	2	977	c.865G>A	c.(865-867)GCG>ACG	p.A289T		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	289						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAGTCGCACGCGGGCAAGGT	0.642		NaN											0	0	0	0.01892	0	23	56				
NUP153	9972	broad.mit.edu	37	6	17675597	17675597	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:17675597T>C	uc003ncd.1	-	4	786	c.586A>G	c.(586-588)ATA>GTA	p.I196V	NUP153_uc011dje.1_Missense_Mutation_p.I196V|NUP153_uc010jpl.1_Missense_Mutation_p.I196V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	196					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAACAGTTATATCTGAAACA	0.353		NaN											0	0	0	0.004007	0	16	52				
HIST1H3F	8968	broad.mit.edu	37	6	26250692	26250692	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:26250692C>T	uc003nhg.1	-	1	144	c.142G>A	c.(142-144)GCC>ACC	p.A48T	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	48					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						TCACGGAGGGCGACAGTACCA	0.607		NaN											0	0	0	0.004656	0	21	134				
TRIM26	7726	broad.mit.edu	37	6	30154266	30154266	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:30154266G>A	uc003npr.2	-	9	1216	c.1007C>T	c.(1006-1008)ACC>ATC	p.T336I	TRIM26_uc003nps.2_Missense_Mutation_p.T336I|TRIM26_uc010jry.2_Missense_Mutation_p.T66I|TRIM26_uc003npt.2_Missense_Mutation_p.T336I	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	336	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GCTGGTGTAGGTCACGCACTT	0.577		NaN											0	0	0	0.009096	0	4	87				
NOTCH4	4855	broad.mit.edu	37	6	32169171	32169171	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:32169171C>T	uc003obb.2	-	22	4001	c.3862G>A	c.(3862-3864)GAT>AAT	p.D1288N	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1288	LNR 3.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGGTCCCCATCTTCAGGCCTG	0.627		NaN											0	0	0	0.007413	0	20	45				
TRERF1	55809	broad.mit.edu	37	6	42236137	42236137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:42236137G>A	uc003osd.2	-	5	1755	c.1192C>T	c.(1192-1194)CAG>TAG	p.Q398*	TRERF1_uc011duq.1_Nonsense_Mutation_p.Q398*|TRERF1_uc003osb.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003osc.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003ose.2_Nonsense_Mutation_p.Q398*	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	398	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGTGCTGGGACAGGTGG	0.627		NaN											0	0	0	0.01441	0	106	103				
XPO5	57510	broad.mit.edu	37	6	43538336	43538336	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:43538336C>A	uc003ovp.2	-	5	735	c.524G>T	c.(523-525)AGA>ATA	p.R175I		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	175					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GATGTCCCTTCTTCTTTGAGG	0.403		NaN											1	0	2.69673e-31	0.01441	3.10918e-31	73	355				
MCM9	254394	broad.mit.edu	37	6	119232920	119232920	+	Silent	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:119232920A>G	uc003pyh.2	-	7	1308	c.1045T>C	c.(1045-1047)TTA>CTA	p.L349L		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	349	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CCAACCAATAAAAGATGAGAT	0.368		NaN											0	0	0	0.013726	0	31	50				
PTPRK	5796	broad.mit.edu	37	6	128411080	128411080	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:128411080G>A	uc003qbk.2	-	8	1587	c.1220C>T	c.(1219-1221)GCT>GTT	p.A407V	PTPRK_uc003qbj.2_Missense_Mutation_p.A407V|PTPRK_uc010kfc.2_Missense_Mutation_p.A407V|PTPRK_uc011ebu.1_Missense_Mutation_p.A407V|PTPRK_uc003qbl.1_Missense_Mutation_p.A277V|PTPRK_uc011ebv.1_Missense_Mutation_p.A407V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	407	Extracellular (Potential).|Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAGTCCACAGCAATCCGTCT	0.418		NaN											0	0	0	0.006214	0	9	78				
GRM1	2911	broad.mit.edu	37	6	146350852	146350852	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr6:146350852T>A	uc010khw.1	+	2	669	c.199T>A	c.(199-201)TGT>AGT	p.C67S	GRM1_uc010khu.1_Missense_Mutation_p.C67S|GRM1_uc010khv.1_Missense_Mutation_p.C67S|GRM1_uc003qll.2_Missense_Mutation_p.C67S|GRM1_uc011edz.1_Missense_Mutation_p.C67S|GRM1_uc011eea.1_Missense_Mutation_p.C67S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	67	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGAGAGGAAGTGTGGGGAGAT	0.592		NaN											0	0	0	0.009096	0	3	74				
C7orf27	221927	broad.mit.edu	37	7	2586960	2586960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:2586960G>A	uc003smi.2	-	3	322	c.280C>T	c.(280-282)CAG>TAG	p.Q94*	C7orf27_uc003smj.1_Nonsense_Mutation_p.Q94*	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	94					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGGCTCACCTGAAGATACTGG	0.602		NaN											0	0	0	0.010818	0	31	66				
RADIL	55698	broad.mit.edu	37	7	4845343	4845343	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:4845343C>G	uc003snj.1	-	10	2317	c.2144G>C	c.(2143-2145)AGC>ACC	p.S715T	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.S220T|RADIL_uc011jwc.1_Missense_Mutation_p.S475T|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_5'Flank	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	715	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCTGTCCAGCTCATCTGGGT	0.662		NaN											0	0	0	0.010504	0	21	47				
AUTS2	26053	broad.mit.edu	37	7	69583197	69583197	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:69583197G>T	uc003tvw.3	+	3	1345	c.602G>T	c.(601-603)AGC>ATC	p.S201I	AUTS2_uc003tvv.3_Missense_Mutation_p.S201I|AUTS2_uc003tvx.3_Missense_Mutation_p.S201I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	201										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACCGGAGCAGCTCTCGGGAA	0.438		NaN											1	0	0.000274275	0.004482	0.000290583	9	93				
COL1A2	1278	broad.mit.edu	37	7	94047865	94047865	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:94047865G>A	uc003ung.1	+	33	2496	c.2025_splice	c.e33+1	p.R675_splice	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Splice_Site	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTCGTGTGAGTAGAAT	0.348		NaN								HNSCC(75;0.22)			0	0	0	0.010771	0	40	75				
C7orf58	79974	broad.mit.edu	37	7	120740100	120740100	+	Silent	SNP	G	G	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:120740100G>T	uc003vjq.3	+	7	1317	c.870G>T	c.(868-870)TCG>TCT	p.S290S	C7orf58_uc003vjr.1_Silent_p.S290S|C7orf58_uc003vjs.3_Silent_p.S290S|C7orf58_uc003vjt.3_Silent_p.S70S|C7orf58_uc010lkk.1_Silent_p.S70S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	290						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TCATTCATTCGACGGGCACAG	0.423		NaN											1	0	9.78485e-24	0.013726	1.11502e-23	31	52				
PLXNA4	91584	broad.mit.edu	37	7	131910975	131910975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr7:131910975C>T	uc003vra.3	-	8	2156	c.1927G>A	c.(1927-1929)GGC>AGC	p.G643S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	643	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AAGGTCATGCCGGTCTCCTTT	0.557		NaN											0	0	0	0.01441	0	90	149				
ESRP1	54845	broad.mit.edu	37	8	95674784	95674784	+	Splice_Site	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:95674784G>A	uc003ygq.3	+	6	827	c.644_splice	c.e6+1	p.C215_splice	ESRP1_uc003ygr.3_Splice_Site_p.C215_splice|ESRP1_uc003ygs.3_Splice_Site_p.C215_splice|ESRP1_uc003ygt.3_Splice_Site_p.C215_splice|ESRP1_uc003ygu.3_Splice_Site_p.C215_splice|ESRP1_uc003ygv.2_Splice_Site_p.C55_splice|ESRP1_uc003ygw.2_Splice_Site_p.C55_splice	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GTGGAACTTGGTAAGTGCTTG	0.229		NaN											0	0	0	0.004007	0	14	25				
TOPORS	10210	broad.mit.edu	37	9	32544237	32544237	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544237C>T	uc003zrb.2	-	3	453	c.286G>A	c.(286-288)GAT>AAT	p.D96N	TOPORS_uc003zrc.2_Missense_Mutation_p.D29N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	96	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGAGATGCATCAGCTGGTACT	0.388		NaN											0	0	0	0.001984	0	7	91				
TOPORS	10210	broad.mit.edu	37	9	32544239	32544239	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:32544239G>A	uc003zrb.2	-	3	451	c.284C>T	c.(283-285)GCT>GTT	p.A95V	TOPORS_uc003zrc.2_Missense_Mutation_p.A28V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	95	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGATGCATCAGCTGGTACTGT	0.388		NaN											0	0	0	0.001984	0	7	90				
IPPK	64768	broad.mit.edu	37	9	95397569	95397569	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:95397569G>A	uc004asl.1	-	10	1215	c.938C>T	c.(937-939)TCG>TTG	p.S313L	IPPK_uc004ask.1_Missense_Mutation_p.S12L	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	313					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CGGTAACCCCGAGCGCTCTGG	0.552		NaN									OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	70				
GABBR2	9568	broad.mit.edu	37	9	101258739	101258739	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:101258739C>T	uc004ays.2	-	4	844	c.688G>A	c.(688-690)GAG>AAG	p.E230K		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	230	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAAGCTCTCGGTGTCTGAA	0.542		NaN											0	0	0	0.008291	0	9	73				
IKBKAP	8518	broad.mit.edu	37	9	111679867	111679867	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:111679867T>C	uc004bdm.3	-	9	1344	c.824A>G	c.(823-825)CAT>CGT	p.H275R	IKBKAP_uc004bdl.2_5'UTR|IKBKAP_uc011lwc.1_Missense_Mutation_p.H161R|IKBKAP_uc010mtq.2_5'UTR	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	275					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AAAGTGTCCATGAAGGAGTCC	0.413		NaN											0	0	0	0.007413	0	20	132				
ZNF883	169834	broad.mit.edu	37	9	115759604	115759604	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:115759604C>G	uc011lwy.1	-	5	2175	c.936G>C	c.(934-936)CAG>CAC	p.Q312H		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	312	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TATGCGTCCTCTGATGTCGAA	0.378		NaN											0	0	0	0.01441	0	81	135				
COL27A1	85301	broad.mit.edu	37	9	116931561	116931561	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:116931561A>G	uc011lxl.1	+	3	1726	c.1726A>G	c.(1726-1728)AGC>GGC	p.S576G	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S426G	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	576	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						AACCAGGCCTAGCCCCAGACA	0.667		NaN											0	0	0	0.003163	0	14	137				
TNC	3371	broad.mit.edu	37	9	117849019	117849019	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:117849019A>C	uc004bjj.3	-	3	1353	c.991T>G	c.(991-993)TAC>GAC	p.Y331D	TNC_uc010mvf.2_Missense_Mutation_p.Y331D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	331	EGF-like 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TCTTCGCAGTAGCAGGTGCCA	0.602		NaN											0	0	0	0.007413	0	19	119				
DBC1	1620	broad.mit.edu	37	9	121930487	121930487	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:121930487C>A	uc004bkc.2	-	8	1617	c.1161G>T	c.(1159-1161)TGG>TGT	p.W387C		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	387					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CCCTTGCAAGCCACTGCTGAA	0.517		NaN											1	0	0.00198382	0.001984	0.00206824	6	22				
CIZ1	25792	broad.mit.edu	37	9	130928556	130928556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:130928556G>A	uc004btt.2	-	17	2780	c.2617C>T	c.(2617-2619)CAG>TAG	p.Q873*	CIZ1_uc004btr.2_Nonsense_Mutation_p.Q845*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q844*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q812*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q793*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q772*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q929*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q817*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q873*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	873						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GTTTTGTCCTGGGTGTTGGGC	0.662		NaN											0	0	0	0.001984	0	5	9				
CRAT	1384	broad.mit.edu	37	9	131860642	131860642	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:131860642T>C	uc004bxh.2	-	10	1496	c.1214A>G	c.(1213-1215)CAG>CGG	p.Q405R	CRAT_uc004bxg.2_Missense_Mutation_p.Q384R|CRAT_uc004bxk.3_Missense_Mutation_p.Q384R	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	405					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ATCCAGGTCCTGGATCATGCT	0.587		NaN											0	0	0	0.01441	0	45	156				
MED22	6837	broad.mit.edu	37	9	136211045	136211045	+	Silent	SNP	G	G	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:136211045G>C	uc004cdc.2	-	4	582	c.348C>G	c.(346-348)CTC>CTG	p.L116L	MED22_uc004cdd.2_Silent_p.L116L	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	116	Potential.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCAGCGTGATGAGCTTCCGGT	0.577		NaN											0	0	0	0.013114	0	46	75				
KIAA1984	84960	broad.mit.edu	37	9	139702037	139702037	+	Silent	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:139702037C>T	uc004cjf.2	+	14	1548	c.1500C>T	c.(1498-1500)TTC>TTT	p.F500F	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_Intron	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	500										ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCTTCCAGTTCCCCGACATGG	0.617		NaN											0	0	0	0.001168	0	6	8				
NDOR1	27158	broad.mit.edu	37	9	140109624	140109624	+	Silent	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140109624G>A	uc004clw.2	+	9	1254	c.1143G>A	c.(1141-1143)CCG>CCA	p.P381P	NDOR1_uc004clx.2_Silent_p.P381P|NDOR1_uc011mes.1_Silent_p.P381P|NDOR1_uc004cly.2_Silent_p.P347P	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	381	FAD-binding FR-type.|FAD (By similarity).				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TTATCCGGCCGAGGGCCTTCT	0.647		NaN											0	0	0	0.016522	0	23	25				
EHMT1	79813	broad.mit.edu	37	9	140707963	140707963	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr9:140707963G>A	uc011mfc.1	+	21	3198	c.3161G>A	c.(3160-3162)AGA>AAA	p.R1054K	EHMT1_uc004coe.2_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1054					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AACATCGACAGAAATATCACT	0.572		NaN											0	0	0	0.007413	0	17	33				
DCAF8L1	139425	broad.mit.edu	37	X	27999131	27999131	+	Missense_Mutation	SNP	C	C	T	rs148567837	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:27999131C>T	uc004dbx.1	-	1	436	c.321G>A	c.(319-321)ATG>ATA	p.M107I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	107	Glu-rich.									ovary(3)|skin(1)	4						cttcctcctccatctcttctt	0.393		NaN											0	0	0	0.010504	0	22	44				
FGD1	2245	broad.mit.edu	37	X	54496454	54496454	+	Missense_Mutation	SNP	C	C	A	rs140078362	by1000genomes	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:54496454C>A	uc004dtg.2	-	4	1830	c.1096G>T	c.(1096-1098)GTG>TTG	p.V366L	FGD1_uc011moi.1_Missense_Mutation_p.V124L	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	366					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGTACCTCCACAGACTCCTGT	0.423		NaN											1	0	1.15919e-05	0.008871	1.24835e-05	18	4				
SATL1	340562	broad.mit.edu	37	X	84363234	84363234	+	Silent	SNP	G	G	A	rs111730253	byFrequency	TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:84363234G>A	uc011mqx.1	-	1	741	c.741C>T	c.(739-741)GAC>GAT	p.D247D	SATL1_uc004een.2_Silent_p.D247D	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	60	Gln-rich.						N-acetyltransferase activity			breast(2)	2						ATTGGTTTGCGTCTGGTTGGC	0.473		NaN											0	0	0	0.009718	0	43	97				
DCAF12L1	139170	broad.mit.edu	37	X	125686549	125686549	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chrX:125686549C>T	uc004eul.2	-	1	294	c.43G>A	c.(43-45)GCG>ACG	p.A15T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	15										skin(3)|ovary(1)	4						GCCTCGACCGCGGGCGCTTTC	0.512		NaN											0	0	0	0.001168	0	6	26				
PRDM16	63976	broad.mit.edu	37	1	3334507	3334507	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:3334507C>T	uc001akf.2	+	11	2887	c.2807C>T	c.(2806-2808)CCC>CTC	p.P936L	PRDM16_uc001akc.2_Missense_Mutation_p.P935L|PRDM16_uc001akd.2_Missense_Mutation_p.P935L|PRDM16_uc001ake.2_Missense_Mutation_p.P936L|PRDM16_uc009vlh.2_Missense_Mutation_p.P636L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	936	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGTCCCCACCCCCAACGCTC	0.657		NaN	T	EVI1	MDS|AML								0	0	0	0.021523	0	21	36				
NBPF1	55672	broad.mit.edu	37	1	16907273	16907273	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:16907273C>T	uc009vos.1	-	16	2446	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.D249N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	520	NBPF 2.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGACATTCATCATGAGAGGAT	0.463		NaN											0	0	0	0.01441	0	82	652				
OSCP1	127700	broad.mit.edu	37	1	36904449	36904449	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:36904449G>C	uc001cap.2	-	3	287	c.205C>G	c.(205-207)CAA>GAA	p.Q69E	OSCP1_uc001caq.2_Missense_Mutation_p.Q59E|OSCP1_uc001car.2_Missense_Mutation_p.Q59E	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	69					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						TAGAGCTCTTGAGGCTTGAAT	0.468		NaN											0	0	0	0.020292	0	15	50				
DISP1	84976	broad.mit.edu	37	1	223178660	223178660	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:223178660G>C	uc001hnu.1	+	8	4068	c.3921G>C	c.(3919-3921)CAG>CAC	p.Q1307H		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1307					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GCTTTGTCCAGATCCAAAACG	0.577		NaN											0	0	0	0.012319	0	18	87				
TTC18	118491	broad.mit.edu	37	10	75051185	75051185	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:75051185G>C	uc009xrc.2	-	20	2369	c.2248C>G	c.(2248-2250)CAA>GAA	p.Q750E	TTC18_uc001jty.2_Missense_Mutation_p.Q750E|TTC18_uc001jtv.3_5'UTR|TTC18_uc001jtw.3_5'UTR|TTC18_uc001jtx.2_Missense_Mutation_p.Q131E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	750							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCATTGTTTTGAATTTCATAG	0.363		NaN											0	0	0	0.006214	0	9	61				
VDAC2	7417	broad.mit.edu	37	10	76980680	76980680	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:76980680A>C	uc001jwz.2	+	7	695	c.536A>C	c.(535-537)AAC>ACC	p.N179T	VDAC2_uc010qld.1_Missense_Mutation_p.N140T|VDAC2_uc001jxa.2_Missense_Mutation_p.N194T|VDAC2_uc010qle.1_Missense_Mutation_p.N140T	NM_003375	NP_003366	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	179	Beta stranded; (By similarity).					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ACAAGGAATAACTTTGCAGTG	0.473		NaN											0	0	0	0.008291	0	11	55				
IDE	3416	broad.mit.edu	37	10	94269887	94269887	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:94269887T>G	uc001kia.2	-	6	893	c.817A>C	c.(817-819)AAG>CAG	p.K273Q		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	273					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	p.K273Q(1)		ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAAATAACTTTACCACCAGA	0.343		NaN											0	0	0	0.004656	0	24	84				
CYP2C9	1559	broad.mit.edu	37	10	96707610	96707610	+	Missense_Mutation	SNP	C	C	T	rs150435881		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:96707610C>T	uc001kka.3	+	4	581	c.556C>T	c.(556-558)CGT>TGT	p.R186C	CYP2C9_uc009xut.2_Missense_Mutation_p.R186C	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	186					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTTCCATAAACGTTTTGATTA	0.373		NaN											0	0	0	0.010729	0	11	45				
C10orf90	118611	broad.mit.edu	37	10	128193175	128193175	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:128193175G>A	uc001ljq.2	-	3	715	c.594C>T	c.(592-594)TTC>TTT	p.F198F	C10orf90_uc001ljp.2_Silent_p.F151F|C10orf90_uc010qum.1_Silent_p.F295F|C10orf90_uc009yao.2_Silent_p.F295F|C10orf90_uc001ljs.1_Silent_p.F151F	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	198										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGTTTCTGGAGAACTCTGTGC	0.602		NaN									OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	23	123				
USP47	55031	broad.mit.edu	37	11	11954622	11954622	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:11954622C>G	uc001mjq.1	+	16	2546	c.1783C>G	c.(1783-1785)CAA>GAA	p.Q595E	USP47_uc001mjr.2_Missense_Mutation_p.Q507E|USP47_uc001mjs.2_Missense_Mutation_p.Q575E	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	595					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		GTTGGAAGAACAAGAAAAGAG	0.338		NaN											0	0	0	0.004672	0	2	10				
MRGPRX2	117194	broad.mit.edu	37	11	19077796	19077796	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:19077796G>A	uc001mph.2	-	2	242	c.154C>T	c.(154-156)CTC>TTC	p.L52F		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	52	Helical; Name=1; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						AGGAGCCAGAGCACAAACCCG	0.572		NaN											0	0	0	0.007291	0	30	131				
MS4A8B	83661	broad.mit.edu	37	11	60468502	60468502	+	Missense_Mutation	SNP	G	G	A	rs148191741	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:60468502G>A	uc001npv.2	+	2	372	c.169G>A	c.(169-171)GTG>ATG	p.V57M	MS4A8B_uc009yne.1_Missense_Mutation_p.V57M	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	57	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGTGTCGAATGTGAATGGGCA	0.532		NaN											0	0	0	0.010729	0	11	58				
SART1	9092	broad.mit.edu	37	11	65729273	65729273	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:65729273C>G	uc001ogl.2	+	1	114	c.22C>G	c.(22-24)CGC>GGC	p.R8G	SART1_uc009yqy.1_Missense_Mutation_p.R8G|SART1_uc010rot.1_Translation_Start_Site	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	8					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						CAAGAAGCATCGCGGAGAGAA	0.348		NaN											0	0	0	0.004482	0	8	15				
BBS1	582	broad.mit.edu	37	11	66282016	66282016	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:66282016G>A	uc001oij.1	+	4	311	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	BBS1_uc001oii.1_Missense_Mutation_p.R137Q|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.R100Q|BBS1_uc001oik.1_Missense_Mutation_p.R24Q|BBS1_uc001oil.1_Missense_Mutation_p.R100Q	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	100					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CATGAGCCCCGGACCCCAGCT	0.562		NaN							Bardet-Biedl_syndrome				0	0	0	0.01441	0	50	205				
GPR152	390212	broad.mit.edu	37	11	67219578	67219578	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:67219578G>C	uc001olm.2	-	1	623	c.618C>G	c.(616-618)CTC>CTG	p.L206L	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	206	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGAGCAGCAGGAGGAAAGGCA	0.677		NaN											0	0	0	0.006214	0	9	45				
OPCML	4978	broad.mit.edu	37	11	132527208	132527209	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:132527208_132527209GG>TT	uc001qgs.2	-	2	223_224	c.173_174CC>AA	c.(172-174)ACC>AAA	p.T58K	OPCML_uc001qgu.2_Missense_Mutation_p.T51K|OPCML_uc010sck.1_Missense_Mutation_p.T58K|OPCML_uc001qgt.2_Missense_Mutation_p.T58K|OPCML_uc010scl.1_Missense_Mutation_p.T17K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	58	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTCATCTATGGTACACCTGCA	0.515		NaN											0	0	0	0.004672	0	8	40				
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:7635262C>T	uc001qsz.3	-	14	3352	c.3224G>A	c.(3223-3225)CGA>CAA	p.R1075Q	CD163_uc001qta.3_Missense_Mutation_p.R1075Q|CD163_uc009zfw.2_Missense_Mutation_p.R1108Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1075	Cytoplasmic (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TCTCTGTCTTCGCTTTTTAGT	0.433		NaN											0	0	0	0.010504	0	16	86				
RIMKLB	57494	broad.mit.edu	37	12	8902643	8902643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:8902643G>A	uc001quu.2	+	3	612	c.361G>A	c.(361-363)GAG>AAG	p.E121K	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E121K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E121K|RIMKLB_uc001quw.2_Missense_Mutation_p.E121K	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	121	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GACATTTCAAGAGTTGGCTGG	0.433		NaN											0	0	0	0.00308	0	7	66				
FAM186B	84070	broad.mit.edu	37	12	49997129	49997129	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:49997129A>G	uc001ruo.2	-	3	517	c.344T>C	c.(343-345)ATT>ACT	p.I115T	FAM186B_uc010smk.1_Missense_Mutation_p.I25T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	115						protein complex				ovary(1)	1						CCTGGGCCCAATCTCATAGGT	0.557		NaN											0	0	0	0.008291	0	11	53				
PIP4K2C	79837	broad.mit.edu	37	12	57992888	57992888	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:57992888T>A	uc001sou.2	+	5	685	c.554T>A	c.(553-555)TTC>TAC	p.F185Y	PIP4K2C_uc001sot.2_Missense_Mutation_p.F185Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.F167Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.F137Y	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	185	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					CTGCCCCAGTTCCTGGGGATG	0.517		NaN											0	0	0	0.020292	0	14	80				
CAMKK2	10645	broad.mit.edu	37	12	121693608	121693608	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:121693608C>T	uc001tzu.2	-	8	921	c.797_splice	c.e8-1	p.V266_splice	CAMKK2_uc001tzt.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzv.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzw.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzx.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzy.2_Splice_Site_p.V266_splice|CAMKK2_uc001tzz.1_Splice_Site_p.V53_splice|CAMKK2_uc001uaa.1_Splice_Site_p.V266_splice|CAMKK2_uc001uab.2_Splice_Site_p.V266_splice|CAMKK2_uc001uac.2_Splice_Site_p.V266_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTTCGAACACTGTAGGGAAG	0.527		NaN											0	0	0	0.001984	0	6	30				
KNTC1	9735	broad.mit.edu	37	12	123067479	123067479	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:123067479G>C	uc001ucv.2	+	34	3373	c.3210G>C	c.(3208-3210)CTG>CTC	p.L1070L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1070					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGGCAGAGCTGACCTTGAGAG	0.488		NaN											0	0	0	0.004672	0	3	23				
DNAH10	196385	broad.mit.edu	37	12	124416629	124416629	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:124416629C>A	uc001uft.3	+	75	12941	c.12916C>A	c.(12916-12918)CGG>AGG	p.R4306R	DNAH10_uc001ufu.3_Silent_p.R219R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4306					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACTTCCTGCGGCGGTTCAG	0.532		NaN											1	0	1.08611e-07	0.010729	1.16597e-07	12	71				
MPHOSPH8	54737	broad.mit.edu	37	13	20224169	20224169	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:20224169G>C	uc001umh.2	+	5	1354	c.1345G>C	c.(1345-1347)GAT>CAT	p.D449H	MPHOSPH8_uc001umg.2_Missense_Mutation_p.D449H|MPHOSPH8_uc001umi.2_Missense_Mutation_p.D146H	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	449					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAATGCATTTGATTTATTTAA	0.279		NaN											0	0	0	0.014758	0	5	30				
FREM2	341640	broad.mit.edu	37	13	39266204	39266204	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:39266204G>A	uc001uwv.2	+	1	5032	c.4723G>A	c.(4723-4725)GTG>ATG	p.V1575M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1575	Extracellular (Potential).|CSPG 11.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATCACCCAGGTGCCTATTCA	0.418		NaN											0	0	0	0.003163	0	16	103				
KIAA0564	23078	broad.mit.edu	37	13	42442585	42442585	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:42442585G>C	uc001uyj.2	-	10	1179	c.1109C>G	c.(1108-1110)TCT>TGT	p.S370C	KIAA0564_uc001uyk.2_Missense_Mutation_p.S370C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	370						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AGGAAGTAGAGAGCTTCCTGA	0.368		NaN											0	0	0	0.008291	0	11	62				
PCDH17	27253	broad.mit.edu	37	13	58208888	58208888	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:58208888G>C	uc001vhq.1	+	1	3100	c.2208G>C	c.(2206-2208)GAG>GAC	p.E736D	PCDH17_uc010aec.1_Missense_Mutation_p.E736D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	736	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAACAAGGAGATCCGCACTT	0.552		NaN											0	0	0	0.001984	0	6	49				
COMMD6	170622	broad.mit.edu	37	13	76104396	76104396	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:76104396C>G	uc001vjo.1	-	3	111	c.61G>C	c.(61-63)GAT>CAT	p.D21H	COMMD6_uc001vjn.1_Missense_Mutation_p.D21H|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_Splice_Site	NM_203495	NP_987091	Q7Z4G1	COMD6_HUMAN	COMM domain containing 6 isoform b	21	COMM.					cytoplasm|nucleus	protein binding				0		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CACTGAAAATCTACAAGCTTT	0.363		NaN											0	0	0	0.006214	0	10	67				
FOS	2353	broad.mit.edu	37	14	75747297	75747297	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr14:75747297G>A	uc001xrn.2	+	3	633	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	FOS_uc010tva.1_Intron|FOS_uc010asi.2_Missense_Mutation_p.R29Q|FOS_uc001xro.2_5'UTR	NM_005252	NP_005243	P01100	FOS_HUMAN	v-fos FBJ murine osteosarcoma viral oncogene	143	Basic motif.			SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).	cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|ovary(1)	3		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		AGGAGAATCCGAAGGGAAAGG	0.468		NaN											0	0	0	0.001168	0	6	40				
ATP10A	57194	broad.mit.edu	37	15	25963405	25963405	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:25963405T>A	uc010ayu.2	-	8	1611	c.1505A>T	c.(1504-1506)CAC>CTC	p.H502L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	502	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTGCGCCGGTGGGACTTGGT	0.687		NaN											0	0	0	0.014758	0	4	22				
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	G	A	rs112615235	by1000genomes	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.2_Splice_Site			Q3KRB8	RHGBB_HUMAN	Homo sapiens cDNA, FLJ17072.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTCCTTGGCAGTGGATAAGTT	0.393		NaN											0	0	0	0.001168	0	6	25				
CATSPER2	117155	broad.mit.edu	37	15	43940187	43940187	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:43940187T>C	uc001zsh.2	-	2	288	c.73A>G	c.(73-75)ACT>GCT	p.T25A	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsj.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsk.2_Missense_Mutation_p.T25A|CATSPER2_uc001zsl.1_Intron	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	25	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAGAGAAAGTATCGATGAGA	0.473		NaN											0	0	0	0.01441	0	55	282				
HERC1	8925	broad.mit.edu	37	15	63970057	63970057	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:63970057C>G	uc002amp.2	-	37	7205	c.7057G>C	c.(7057-7059)GAA>CAA	p.E2353Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2353					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ATAGTAATTTCTGCTTCATCC	0.458		NaN											0	0	0	0.004656	0	26	104				
IL16	3603	broad.mit.edu	37	15	81592687	81592687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:81592687C>G	uc002bgh.3	+	14	3396	c.3020C>G	c.(3019-3021)TCT>TGT	p.S1007C	IL16_uc010blq.1_Missense_Mutation_p.S961C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S1049C|IL16_uc002bgg.2_Missense_Mutation_p.S1007C|IL16_uc002bgi.1_Missense_Mutation_p.S397C|IL16_uc002bgj.2_Missense_Mutation_p.S501C|IL16_uc002bgk.2_Missense_Mutation_p.S306C|IL16_uc002bgl.1_Missense_Mutation_p.S306C|IL16_uc010unq.1_Missense_Mutation_p.S306C	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1007					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGCCTTCCATCTTCTATCTCC	0.493		NaN											0	0	0	0.008871	0	20	101				
PCSK6	5046	broad.mit.edu	37	15	101906530	101906530	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:101906530C>T	uc002bwy.2	-	14	2043	c.1729G>A	c.(1729-1731)GAT>AAT	p.D577N	PCSK6_uc010bpd.2_Missense_Mutation_p.D373N|PCSK6_uc010bpe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxa.2_Missense_Mutation_p.D577N|PCSK6_uc002bxb.2_Missense_Mutation_p.D577N|PCSK6_uc002bxc.1_Missense_Mutation_p.D577N|PCSK6_uc002bxd.1_Missense_Mutation_p.D577N|PCSK6_uc002bxe.2_Missense_Mutation_p.D577N|PCSK6_uc002bxf.1_Missense_Mutation_p.D77N	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	577	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGGAAAGATCCAGCAACCTG	0.542		NaN											0	0	0	0.001168	0	6	41				
SLC5A11	115584	broad.mit.edu	37	16	24920408	24920408	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:24920408C>T	uc002dmu.2	+	14	1873	c.1641C>T	c.(1639-1641)TCC>TCT	p.S547S	SLC5A11_uc002dms.2_Silent_p.S483S|SLC5A11_uc010vcd.1_Silent_p.S512S|SLC5A11_uc002dmt.2_Silent_p.S391S|SLC5A11_uc010vce.1_Silent_p.S477S|SLC5A11_uc010bxt.2_Silent_p.S483S|SLC5A11_uc002dmv.2_Silent_p.S170S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	547	Cytoplasmic (Potential).			S -> P (in Ref. 5; BAC86105).	apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		AGCCACCCTCCAAGGAGATGG	0.363		NaN											0	0	0	0.003163	0	15	91				
ATXN2L	11273	broad.mit.edu	37	16	28847397	28847397	+	Silent	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847397C>G	uc002drc.2	+	22	3207	c.3039C>G	c.(3037-3039)CTC>CTG	p.L1013L	uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.L1013L|ATXN2L_uc002dqy.2_Silent_p.L1013L|ATXN2L_uc002dra.2_Silent_p.L1013L|ATXN2L_uc002dqz.2_Silent_p.L1013L|ATXN2L_uc010vdb.1_Silent_p.L1019L|ATXN2L_uc002dre.2_Silent_p.L1013L|ATXN2L_uc002drf.2_Silent_p.L422L|ATXN2L_uc002drg.2_Silent_p.L296L	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	1013						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGCCTGCACTCTCAGCTTCCA	0.682		NaN											0	0	0	0.004007	0	15	92				
ATXN2L	11273	broad.mit.edu	37	16	28847414	28847414	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847414C>T	uc002drc.2	+	22	3224	c.3056C>T	c.(3055-3057)TCA>TTA	p.S1019L	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqy.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dra.2_Missense_Mutation_p.S1019L|ATXN2L_uc002dqz.2_Missense_Mutation_p.S1019L|ATXN2L_uc010vdb.1_Missense_Mutation_p.S1025L|ATXN2L_uc002dre.2_Missense_Mutation_p.S1019L|ATXN2L_uc002drf.2_Missense_Mutation_p.S428L|ATXN2L_uc002drg.2_Missense_Mutation_p.S302L	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	1019						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TCCACACCCTCACCCTACCCC	0.647		NaN											0	0	0	0.016522	0	21	93				
CIAPIN1	57019	broad.mit.edu	37	16	57468081	57468081	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:57468081C>T	uc002ell.1	-	5	602	c.431G>A	c.(430-432)CGA>CAA	p.R144Q	CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.R131Q|CIAPIN1_uc002eln.1_Missense_Mutation_p.R144Q|CIAPIN1_uc010cda.1_Missense_Mutation_p.R144Q|CIAPIN1_uc002elo.1_Missense_Mutation_p.R117Q|CIAPIN1_uc010vhm.1_Missense_Mutation_p.R144Q	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	144					anti-apoptosis|apoptosis	cytoplasm|nucleolus					0						AAGGTGTTCTCGAACAGACTG	0.448		NaN											0	0	0	0.021523	0	25	158				
CDH16	1014	broad.mit.edu	37	16	66944181	66944181	+	Missense_Mutation	SNP	G	G	A	rs140255974		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:66944181G>A	uc002eql.2	-	15	2222	c.2149C>T	c.(2149-2151)CGC>TGC	p.R717C	CDH16_uc010cdy.2_Missense_Mutation_p.R695C|CDH16_uc002eqm.2_Missense_Mutation_p.R620C	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	717	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTGGAGGCGCCAATCCCGT	0.612		NaN											0	0	0	0.007413	0	18	61				
KLHL36	79786	broad.mit.edu	37	16	84684521	84684521	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:84684521C>T	uc002fig.2	+	2	189	c.48C>T	c.(46-48)ATC>ATT	p.I16I	KLHL36_uc010chl.2_Silent_p.I15I	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	16										skin(2)	2						CATACAAGATCAGCGAATCAT	0.438		NaN											0	0	0	0.010729	0	12	83				
FAM57A	79850	broad.mit.edu	37	17	641234	641234	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:641234C>G	uc002frp.2	+	3	396	c.355C>G	c.(355-357)CTC>GTC	p.L119V	FAM57A_uc002frq.2_Missense_Mutation_p.L119V|FAM57A_uc002frr.2_Missense_Mutation_p.L29V	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	119	TLC.|Helical; (Potential).					integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TCGAAACCGCCTCATGATCAC	0.552		NaN											0	0	0	0.00499	0	17	91				
ASPA	443	broad.mit.edu	37	17	3402335	3402335	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:3402335A>T	uc010ckg.2	+	7	986	c.895A>T	c.(895-897)ACT>TCT	p.T299S	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.T299S	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	299					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TGCAAAGACAACTAAACTAAC	0.403		NaN											0	0	0	0.001168	0	5	35				
MYH4	4622	broad.mit.edu	37	17	10366440	10366440	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:10366440G>C	uc002gmn.2	-	10	982	c.871C>G	c.(871-873)CAA>GAA	p.Q291E	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	291	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GACAGGATTTGATAAAATATG	0.373		NaN											0	0	0	0.012319	0	22	68				
NUFIP2	57532	broad.mit.edu	37	17	27613535	27613535	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:27613535G>C	uc002hdy.3	-	2	1566	c.1477C>G	c.(1477-1479)CAG>GAG	p.Q493E	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	493						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGATCTGTCTGAGAGGGCAGA	0.438		NaN											0	0	0	0.013537	0	12	62				
SYNRG	11276	broad.mit.edu	37	17	35913327	35913327	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:35913327G>C	uc002hoa.2	-	14	2581	c.2498C>G	c.(2497-2499)TCT>TGT	p.S833C	SYNRG_uc010wde.1_Missense_Mutation_p.S755C|SYNRG_uc010wdf.1_Missense_Mutation_p.S755C|SYNRG_uc002hoc.2_Missense_Mutation_p.S754C|SYNRG_uc002hoe.2_Missense_Mutation_p.S755C|SYNRG_uc002hod.2_Missense_Mutation_p.S755C|SYNRG_uc010wdg.1_Missense_Mutation_p.S672C|SYNRG_uc002hob.2_Missense_Mutation_p.S833C|SYNRG_uc002hof.2_Missense_Mutation_p.S545C|SYNRG_uc010cvd.1_Missense_Mutation_p.S633C	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	833					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AAACTGAACAGAGAGTGCATC	0.463		NaN											0	0	0	0.013537	0	12	72				
SC65	10609	broad.mit.edu	37	17	39967426	39967426	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:39967426G>A	uc002hxt.2	-	2	857	c.573C>T	c.(571-573)GTC>GTT	p.V191V	FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Silent_p.V282V	NM_006455	NP_006446	Q92791	SC65_HUMAN	synaptonemal complex protein SC65	191					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.149)		ACTCGTCGGCGACGTCCAGCA	0.627		NaN											0	0	0	0.010771	0	38	227				
TTC25	83538	broad.mit.edu	37	17	40093047	40093047	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:40093047G>A	uc002hyj.3	+	5	581	c.492G>A	c.(490-492)ATG>ATA	p.M164I	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.M164I	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	164						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTCAGCCCATGAAACACCTCT	0.552		NaN											0	0	0	0.013537	0	13	62				
EFTUD2	9343	broad.mit.edu	37	17	42937868	42937868	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:42937868G>A	uc002ihn.2	-	17	1912	c.1651C>T	c.(1651-1653)CTG>TTG	p.L551L	EFTUD2_uc010wje.1_Silent_p.L516L|EFTUD2_uc010wjf.1_Silent_p.L541L	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	551						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCTTCAATCAGAACCCAGTTG	0.478		NaN											0	0	0	0.004007	0	16	89				
CBX4	8535	broad.mit.edu	37	17	77809510	77809510	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:77809510C>T	uc002jxe.2	-	4	344	c.181G>A	c.(181-183)GAA>AAA	p.E61K		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	61	Chromo.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCCGTTCCCTGGGTGGG	0.637		NaN									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	10				
B3GNTL1	146712	broad.mit.edu	37	17	81006556	81006556	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:81006556C>T	uc002kgg.1	-	2	180	c.166G>A	c.(166-168)GAT>AAT	p.D56N	B3GNTL1_uc002kgf.1_5'UTR	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal	56							transferase activity, transferring glycosyl groups			ovary(1)|pancreas(1)	2	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTACTGGCATCATTGAAAACA	0.507		NaN											0	0	0	0.009535	0	30	102				
LAMA3	3909	broad.mit.edu	37	18	21492790	21492790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:21492790C>G	uc002kuq.2	+	56	7360	c.7274C>G	c.(7273-7275)TCA>TGA	p.S2425*	LAMA3_uc002kur.2_Nonsense_Mutation_p.S2369*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S816*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S760*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2425	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCCAACTCAAGAGAAAAT	0.388		NaN											0	0	0	0.004007	0	16	87				
KIAA1468	57614	broad.mit.edu	37	18	59855016	59855016	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:59855016C>G	uc002lil.2	+	1	493	c.278C>G	c.(277-279)TCA>TGA	p.S93*	PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Nonsense_Mutation_p.S93*|KIAA1468_uc010xel.1_Nonsense_Mutation_p.S93*	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	93							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GCCCGATTATCAATTGATGCG	0.672		NaN											0	0	0	0.009096	0	3	11				
CD209	30835	broad.mit.edu	37	19	7810765	7810765	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:7810765C>A	uc002mht.2	-	4	454	c.387G>T	c.(385-387)CGG>CGT	p.R129R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.R105R|CD209_uc002mhr.2_Silent_p.R105R|CD209_uc002mhs.2_Silent_p.R105R|CD209_uc002mhu.2_Silent_p.R129R|CD209_uc010dvq.2_Silent_p.R129R|CD209_uc002mhq.2_Silent_p.R129R|CD209_uc002mhv.2_Silent_p.R105R|CD209_uc002mhx.2_Silent_p.R85R|CD209_uc002mhw.2_Silent_p.R85R|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CAGCCTTCAGCCGGGTCAGCT	0.567		NaN											1	0	1.22674e-20	0.00874	1.3267e-20	40	164				
ZBTB32	27033	broad.mit.edu	37	19	36206379	36206379	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:36206379G>A	uc002oay.2	+	2	1061	c.851G>A	c.(850-852)GGA>GAA	p.G284E	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	284					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACCACTGGAGCCTGGCAG	0.672		NaN											0	0	0	0.016522	0	22	100				
C19orf54	284325	broad.mit.edu	37	19	41248515	41248515	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:41248515C>T	uc002oou.1	-	6	999	c.879G>A	c.(877-879)AAG>AAA	p.K293K	C19orf54_uc002oow.1_Silent_p.K121K|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	293											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTGCCAACTCTTGCCCTGCT	0.662		NaN											0	0	0	0.004672	0	3	26				
SIGLEC8	27181	broad.mit.edu	37	19	51958721	51958721	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:51958721C>T	uc002pwt.2	-	4	1069	c.1002G>A	c.(1000-1002)CAG>CAA	p.Q334Q	SIGLEC8_uc010yda.1_Silent_p.Q225Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.Q241Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	334	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGGAGCCCTGAGCGTTCT	0.632		NaN											0	0	0	0.001168	0	5	42				
ZNF613	79898	broad.mit.edu	37	19	52448817	52448817	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:52448817G>T	uc002pxz.1	+	6	2104	c.1681G>T	c.(1681-1683)GAT>TAT	p.D561Y	ZNF613_uc002pya.1_Missense_Mutation_p.D525Y	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACATACACGTGATCTCATACA	0.428		NaN											1	0	2.56e-06	0.009096	2.72818e-06	4	44				
ZNF765	91661	broad.mit.edu	37	19	53912233	53912233	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912233C>T	uc010ydx.1	+	6	1752	c.1425C>T	c.(1423-1425)TTC>TTT	p.F475F	ZNF765_uc002qbm.2_Silent_p.F475F|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	475	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		GCAAGACCTTCAGCCGGACGT	0.378		NaN											0	0	0	0.013537	0	11	87				
ZNF765	91661	broad.mit.edu	37	19	53912261	53912261	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912261C>T	uc010ydx.1	+	6	1780	c.1453C>T	c.(1453-1455)CAT>TAT	p.H485Y	ZNF765_uc002qbm.2_Missense_Mutation_p.H485Y|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	485	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		TACATACCATCATAGACTTCA	0.373		NaN											0	0	0	0.00308	0	6	81				
PXDN	7837	broad.mit.edu	37	2	1670223	1670223	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:1670223C>G	uc002qxa.2	-	10	1118	c.1054G>C	c.(1054-1056)GAG>CAG	p.E352Q	PXDN_uc002qxb.1_Missense_Mutation_p.E352Q|PXDN_uc002qxc.1_Missense_Mutation_p.E169Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	352	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCAGCACCTCTGTATTCTGT	0.532		NaN											0	0	0	0.00308	0	6	17				
NRBP1	29959	broad.mit.edu	37	2	27656553	27656553	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:27656553A>G	uc002rko.2	+	4	1056	c.224A>G	c.(223-225)AAT>AGT	p.N75S	NRBP1_uc002rkq.2_Missense_Mutation_p.N75S|NRBP1_uc002rkp.2_Missense_Mutation_p.N75S|NRBP1_uc002rkr.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	75	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					AATCAACGGAATGTACCAGGT	0.418		NaN											0	0	0	0.004482	0	9	80				
BIRC6	57448	broad.mit.edu	37	2	32694656	32694656	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:32694656A>G	uc010ezu.2	+	30	6455	c.6321A>G	c.(6319-6321)GAA>GAG	p.E2107E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2107					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ACAATTCGGAACAGCTTCTCA	0.388		NaN											0	0	0	0.007413	0	20	167				
LTBP1	4052	broad.mit.edu	37	2	33500072	33500072	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:33500072G>C	uc002ros.2	+	17	2787	c.2787G>C	c.(2785-2787)CAG>CAC	p.Q929H	LTBP1_uc002rot.2_Missense_Mutation_p.Q603H|LTBP1_uc002rou.2_Missense_Mutation_p.Q602H|LTBP1_uc002rov.2_Missense_Mutation_p.Q549H|LTBP1_uc010ymz.1_Missense_Mutation_p.Q602H|LTBP1_uc010yna.1_Missense_Mutation_p.Q549H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	928	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTGCTCCCAGGGCCGCTGTG	0.438		NaN											0	0	0	0.021523	0	24	84				
C2orf42	54980	broad.mit.edu	37	2	70409093	70409093	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:70409093T>C	uc002sgh.2	-	3	353	c.25A>G	c.(25-27)AAA>GAA	p.K9E		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	9											0						GCTGGGACTTTAGTCCTCAGA	0.438		NaN											0	0	0	0.003163	0	13	46				
AFF3	3899	broad.mit.edu	37	2	100167951	100167951	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:100167951G>A	uc002tag.2	-	24	3902	c.3666C>T	c.(3664-3666)AGC>AGT	p.S1222S	AFF3_uc002taf.2_Silent_p.S1247S	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1222					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G1222>V(1)		ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						ACAGGTGGGCGCTGTTCCGCA	0.612		NaN											0	0	0	0.001984	0	7	20				
GCC2	9648	broad.mit.edu	37	2	109102293	109102293	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:109102293G>A	uc002tec.2	+	15	3875	c.3721G>A	c.(3721-3723)GAT>AAT	p.D1241N	GCC2_uc002ted.2_Missense_Mutation_p.D1140N	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1241	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						ATAGGAAACTGATCACTTAAT	0.274		NaN											0	0	0	0.004672	0	3	26				
XIRP2	129446	broad.mit.edu	37	2	168106607	168106607	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:168106607A>G	uc002udx.2	+	8	8723	c.8705A>G	c.(8704-8706)AAG>AGG	p.K2902R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2727R|XIRP2_uc010fpq.2_Missense_Mutation_p.K2680R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.K248R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2727					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTCGAAGTCAAGGGCATACAA	0.378		NaN											0	0	0	0.010729	0	12	30				
SSB	6741	broad.mit.edu	37	2	170666827	170666827	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:170666827A>C	uc002ufk.2	+	9	811	c.704A>C	c.(703-705)AAA>ACA	p.K235T	SSB_uc002ufl.2_Missense_Mutation_p.K235T|SSB_uc002ufm.2_Missense_Mutation_p.K235T	NM_003142	NP_003133	P05455	LA_HUMAN	autoantigen La	235					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			skin(3)|pancreas(1)	4						TGCTTGCTGAAATTTTCGGGT	0.333		NaN											0	0	0	0.006214	0	10	46				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:178098810C>T	uc002ulh.3	-	2	790	c.235G>A	c.(235-237)GAG>AAG	p.E79K	NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.016522	0	23	44		Valid		
CCDC108	255101	broad.mit.edu	37	2	219884302	219884302	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:219884302C>T	uc002vjl.1	-	20	3483	c.3399G>A	c.(3397-3399)CTG>CTA	p.L1133L	CCDC108_uc002vjm.3_Silent_p.L18L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1133						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAGCAGGTCCAGAGAGAAGA	0.622		NaN											0	0	0	0.004482	0	8	42				
SPEG	10290	broad.mit.edu	37	2	220337742	220337742	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:220337742C>T	uc010fwg.2	+	16	4071	c.4071C>T	c.(4069-4071)TTC>TTT	p.F1357F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1357	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCACATCTTCCGGGTCCTCA	0.672		NaN											0	0	0	0.012319	0	19	46				
PTPRA	5786	broad.mit.edu	37	20	3007825	3007825	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:3007825G>A	uc010zqd.1	+	18	2117	c.1800G>A	c.(1798-1800)GTG>GTA	p.V600V	PTPRA_uc002whj.2_Silent_p.V589V|PTPRA_uc002whk.2_Silent_p.V580V|PTPRA_uc002whl.2_Silent_p.V580V|PTPRA_uc002whm.2_Silent_p.V356V|PTPRA_uc002whn.2_Silent_p.V580V|PTPRA_uc002who.2_Silent_p.V252V	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	589	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						CAGACTATGTGAACGCATCCT	0.493		NaN											0	0	0	0.006122	0	19	136				
NINL	22981	broad.mit.edu	37	20	25481640	25481640	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:25481640C>G	uc002wux.1	-	8	942	c.868G>C	c.(868-870)GAG>CAG	p.E290Q	NINL_uc010gdn.1_Missense_Mutation_p.E290Q|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.E306Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	290					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CCGCTCTCCTCTGGGACCTGC	0.607		NaN											0	0	0	0.00308	0	6	17				
TPTE	7179	broad.mit.edu	37	21	10944672	10944672	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr21:10944672G>A	uc002yip.1	-	11	930	c.562C>T	c.(562-564)CCC>TCC	p.P188S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P170S|TPTE_uc002yir.1_Missense_Mutation_p.P150S|TPTE_uc010gkv.1_Missense_Mutation_p.P50S	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATACCTGGGAATATTCCTA	0.284		NaN											0	0	0	0.006214	0	9	173				
ATP5O	539	broad.mit.edu	37	21	35276300	35276300	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr21:35276300T>A	uc002ytl.2	-	6	558	c.467A>T	c.(466-468)GAA>GTA	p.E156V	DONSON_uc002ysn.1_Intron	NM_001697	NP_001688	P48047	ATPO_HUMAN	mitochondrial ATP synthase, O subunit precursor	156					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|plasma membrane|proton-transporting ATP synthase complex, catalytic core F(1)	drug binding|hydrogen ion transporting ATP synthase activity, rotational mechanism			ovary(1)	1						AGTTTTTAATTCAGAGAGTGT	0.383		NaN											0	0	0	0.010729	0	11	57				
RAB36	9609	broad.mit.edu	37	22	23501351	23501351	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:23501351C>T	uc002zwv.1	+	9	768	c.728C>T	c.(727-729)TCA>TTA	p.S243L	RAB36_uc010gtw.1_Missense_Mutation_p.S221L	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	243					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TTCTCCCAGTCAGGGGCCGCA	0.662		NaN											0	0	0	0.009096	0	3	10				
PMM1	5372	broad.mit.edu	37	22	41980593	41980593	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:41980593C>G	uc003bal.2	-	3	282	c.220G>C	c.(220-222)GAT>CAT	p.D74H		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	74					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						AACACATAATCAAACTTCTCA	0.547		NaN											0	0	0	0.008871	0	20	107				
CCR5	1234	broad.mit.edu	37	3	46414642	46414642	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:46414642C>T	uc003cpo.3	+	3	371	c.249C>T	c.(247-249)GTC>GTT	p.V83V	CCR5_uc010hjd.2_Silent_p.V83V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	83	Helical; Name=2; (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTCTTACTGTCCCCTTCTGGG	0.473		NaN											0	0	0	0.012213	0	35	162				
HYAL3	8372	broad.mit.edu	37	3	50331065	50331065	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:50331065C>G	uc003czd.1	-	3	1255	c.982G>C	c.(982-984)GAG>CAG	p.E328Q	HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Missense_Mutation_p.E79Q|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	328					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGATCACCTCAGAGCTGGAG	0.587		NaN											0	0	0	0.013537	0	12	103				
IGSF11	152404	broad.mit.edu	37	3	118624510	118624510	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:118624510C>G	uc003ebw.2	-	5	883	c.636G>C	c.(634-636)TTG>TTC	p.L212F	IGSF11_uc011biv.1_Missense_Mutation_p.L212F|IGSF11_uc003ebx.2_Intron|IGSF11_uc003eby.2_Missense_Mutation_p.L211F|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Missense_Mutation_p.L211F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	212	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CGCACTGGTACAAACCTGAAG	0.468		NaN											0	0	0	0.009096	0	4	60				
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:133524732G>A	uc003epx.1	+	1	56	c.40G>A	c.(40-42)GGT>AGT	p.G14S		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	14						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						AGATGGCGGCGGTGCCGGGGG	0.672		NaN											0	0	0	0.004007	0	14	49				
WDR49	151790	broad.mit.edu	37	3	167249008	167249008	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:167249008C>G	uc003fev.1	-	9	1363	c.1057G>C	c.(1057-1059)GAC>CAC	p.D353H	WDR49_uc003feu.1_Missense_Mutation_p.D178H|WDR49_uc011bpd.1_Missense_Mutation_p.D417H|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										large_intestine(1)|ovary(1)|skin(1)	3						GTAGAATGGTCTGCCATGGGG	0.433		NaN											0	0	0	0.014758	0	4	26				
GHSR	2693	broad.mit.edu	37	3	172166168	172166168	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:172166168G>C	uc003fib.1	-	1	36	c.36C>G	c.(34-36)TTC>TTG	p.F12L	GHSR_uc011bpv.1_Missense_Mutation_p.F12L	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	12	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTGTGAGGTTGAACCCCGGCT	0.697		NaN											0	0	0	0.010729	0	11	23				
CEP135	9662	broad.mit.edu	37	4	56885642	56885642	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:56885642C>T	uc003hbi.2	+	23	3370	c.3136C>T	c.(3136-3138)CAT>TAT	p.H1046Y	CEP135_uc003hbj.2_Missense_Mutation_p.H752Y	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	1046					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAATTTCATTCTCACTT	0.358		NaN											0	0	0	0.014758	0	5	23				
CYP2U1	113612	broad.mit.edu	37	4	108866647	108866647	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:108866647G>A	uc003hyp.2	+	2	1095	c.1012G>A	c.(1012-1014)GAT>AAT	p.D338N	CYP2U1_uc011cfi.1_Missense_Mutation_p.D129N	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	338					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CAGCAGTTTTGATGAAGAGTA	0.413		NaN											0	0	0	0.006122	0	18	73				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:153247289G>C	uc003ims.2	-	10	1662	c.1513C>G	c.(1513-1515)CGC>GGC	p.R505G	FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.001984	0	6	41		Valid		
FAT1	2195	broad.mit.edu	37	4	187540912	187540912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:187540912G>C	uc003izf.2	-	10	7016	c.6828C>G	c.(6826-6828)ATC>ATG	p.I2276M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2276	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGTTATCATTGATGTCGTCTA	0.493		NaN								HNSCC(5;0.00058)			0	0	0	0.008871	0	20	114				
CTNND2	1501	broad.mit.edu	37	5	11732250	11732250	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:11732250G>T	uc003jfa.1	-	2	317	c.172C>A	c.(172-174)CAG>AAG	p.Q58K	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	58	Potential.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GTTTCTACCTGTTCTTTGACT	0.418		NaN											1	0	3.86212e-05	0.008291	4.08601e-05	9	47				
GPR98	84059	broad.mit.edu	37	5	89969991	89969991	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:89969991A>C	uc003kju.2	+	23	5146	c.5050A>C	c.(5050-5052)AGC>CGC	p.S1684R	GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1684	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGGTGCAAGCATAGATCC	0.423		NaN											0	0	0	0.001168	0	6	27				
SLCO4C1	353189	broad.mit.edu	37	5	101592818	101592818	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:101592818C>T	uc003knm.2	-	8	1756	c.1469_splice	c.e8+1	p.G490_splice		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTGTATTTACCCATTATATG	0.323		NaN											0	0	0	0.008291	0	10	43				
PCDHAC1	56135	broad.mit.edu	37	5	140306514	140306514	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140306514G>A	uc003lih.2	+	1	213	c.37G>A	c.(37-39)GTT>ATT	p.V13I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V13I	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	13					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTTGTGGGTTTCCTGCGG	0.632		NaN											0	0	0	0.014758	0	5	50				
PCDHB6	56130	broad.mit.edu	37	5	140531711	140531711	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140531711G>T	uc003lir.2	+	1	1873	c.1873G>T	c.(1873-1875)GCC>TCC	p.A625S	PCDHB6_uc011dah.1_Missense_Mutation_p.A489S	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	625	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.687		NaN											1	0	0.000308642	0.003163	0.000324185	11	45				
GABRA1	2554	broad.mit.edu	37	5	161300148	161300148	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:161300148G>A	uc010jiw.2	+	6	749	c.281G>A	c.(280-282)CGT>CAT	p.R94H	GABRA1_uc010jix.2_Missense_Mutation_p.R94H|GABRA1_uc010jiy.2_Missense_Mutation_p.R94H|GABRA1_uc003lyx.3_Missense_Mutation_p.R94H|GABRA1_uc010jiz.2_Missense_Mutation_p.R94H|GABRA1_uc010jja.2_Missense_Mutation_p.R94H|GABRA1_uc010jjb.2_Missense_Mutation_p.R94H	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	94	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R94H(1)		ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTATTTTTCCGTCAAAGCTGG	0.373		NaN											0	0	0	0.009096	0	4	35				
CUL9	23113	broad.mit.edu	37	6	43174208	43174208	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43174208C>T	uc003ouk.2	+	26	5247	c.5172C>T	c.(5170-5172)TTC>TTT	p.F1724F	CUL9_uc003oul.2_Silent_p.F1724F|CUL9_uc010jyk.2_Silent_p.F876F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1724					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCACAGAATTCTGTGATGCCC	0.542		NaN											0	0	0	0.014323	0	22	96				
ZNF318	24149	broad.mit.edu	37	6	43305865	43305865	+	Silent	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43305865A>T	uc003oux.2	-	10	5949	c.5871T>A	c.(5869-5871)GCT>GCA	p.A1957A	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1957					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATCCCAAACAGCCAACTCAT	0.428		NaN											0	0	0	0.008291	0	11	83				
SLC35B2	347734	broad.mit.edu	37	6	44223092	44223092	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:44223092G>A	uc003oxd.2	-	4	786	c.650C>T	c.(649-651)GCC>GTC	p.A217V	SLC35B2_uc011dvt.1_Missense_Mutation_p.A120V|SLC35B2_uc011dvu.1_Missense_Mutation_p.A84V	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	217					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTTAGAGGCCTTGGCCAG	0.562		NaN											0	0	0	0.008871	0	20	100				
ENPP3	5169	broad.mit.edu	37	6	131979502	131979502	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:131979502A>G	uc003qcu.3	+	7	851	c.504A>G	c.(502-504)GGA>GGG	p.G168G	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.G134G|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.G168G	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	168	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTATGGATGGATTTAGAGCTG	0.338		NaN											0	0	0	0.009096	0	3	23				
SHPRH	257218	broad.mit.edu	37	6	146275906	146275906	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:146275906T>C	uc003qlf.2	-	2	952	c.553A>G	c.(553-555)ATG>GTG	p.M185V	SHPRH_uc003qld.2_Missense_Mutation_p.M185V|SHPRH_uc003qle.2_Missense_Mutation_p.M185V|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.M74V|SHPRH_uc003qlk.1_Missense_Mutation_p.M185V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	185				M -> V (in Ref. 3; CAH18145).	DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCTAACATTTCACCACTG	0.363		NaN											0	0	0	0.007413	0	19	46				
ARID1B	57492	broad.mit.edu	37	6	157517418	157517418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:157517418C>T	uc003qqn.2	+	16	4080	c.3928C>T	c.(3928-3930)CAG>TAG	p.Q1310*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1270*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1257*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1315					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCAGCGCCAGCAGTTTCCCTA	0.478		NaN											0	0	0	0.019004	0	34	167		Valid		
RBAK	57786	broad.mit.edu	37	7	5103941	5103941	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:5103941G>C	uc010kss.1	+	6	1178	c.854G>C	c.(853-855)GGA>GCA	p.G285A	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.G285A	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	285					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GCTCACACAGGAGAGAAACCT	0.418		NaN											0	0	0	0.006214	0	10	39				
FERD3L	222894	broad.mit.edu	37	7	19184848	19184848	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:19184848G>A	uc003suo.1	-	1	197	c.138C>T	c.(136-138)CTC>CTT	p.L46L	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	46					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TTCCCTCTCGGAGCGCAAGGG	0.453		NaN											0	0	0	0.009096	0	4	44				
NPVF	64111	broad.mit.edu	37	7	25264765	25264765	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:25264765A>G	uc003sxo.2	-	3	614	c.567T>C	c.(565-567)GAT>GAC	p.D189D		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	189					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1						TCAATTCTGCATCATCTATTT	0.393		NaN											0	0	0	0.001168	0	6	48				
PAX4	5078	broad.mit.edu	37	7	127255466	127255466	+	Missense_Mutation	SNP	G	G	A	rs35155575	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:127255466G>A	uc010lld.1	-	1	315	c.109C>T	c.(109-111)CGG>TGG	p.R37W	PAX4_uc003vmf.2_Translation_Start_Site|PAX4_uc003vmg.1_Missense_Mutation_p.R37W|PAX4_uc003vmh.2_Translation_Start_Site	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	45	Paired.		R -> W (associated with PKD susceptbility).		cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTAAGGATCCGTGAGATGTCA	0.602		NaN											0	0	0	0.003163	0	13	107				
MLL3	58508	broad.mit.edu	37	7	151949162	151949162	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:151949162C>G	uc003wla.2	-	11	1702	c.1483G>C	c.(1483-1485)GAG>CAG	p.E495Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	495	PHD-type 3.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTCACACTCTAGGTGAACC	0.378		NaN	N		medulloblastoma								0	0	0	0.014758	0	4	19		Valid		
RAB11FIP1	80223	broad.mit.edu	37	8	37730530	37730530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:37730530G>C	uc003xkm.1	-	4	1834	c.1790C>G	c.(1789-1791)TCT>TGT	p.S597C	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	597	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGATGAGAGAGAGGAGAAGAC	0.547		NaN											0	0	0	0.004007	0	17	98				
BAG4	9530	broad.mit.edu	37	8	38065264	38065264	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:38065264C>T	uc003xky.1	+	3	895	c.613C>T	c.(613-615)CCA>TCA	p.P205S	BAG4_uc003xkz.1_Missense_Mutation_p.P169S	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	205					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGCAGGTTCCAGGATATCC	0.478		NaN											0	0	0	0.020292	0	13	78				
CHD7	55636	broad.mit.edu	37	8	61769208	61769208	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:61769208A>T	uc003xue.2	+	34	7846	c.7369A>T	c.(7369-7371)AAT>TAT	p.N2457Y		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2457					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCTACCTCAAATTTTTCATC	0.428		NaN											0	0	0	0.006122	0	17	98		Valid		
PKHD1L1	93035	broad.mit.edu	37	8	110460508	110460508	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:110460508T>A	uc003yne.2	+	39	6017	c.5913T>A	c.(5911-5913)GAT>GAA	p.D1971E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1971	Extracellular (Potential).|IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTGGGAGATCATGCTGGGG	0.408		NaN								HNSCC(38;0.096)			0	0	0	0.009096	0	4	16				
BNC2	54796	broad.mit.edu	37	9	16437456	16437456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:16437456G>A	uc003zml.2	-	6	876	c.736C>T	c.(736-738)CAG>TAG	p.Q246*	BNC2_uc011lmw.1_Nonsense_Mutation_p.Q151*|BNC2_uc003zmm.2_Nonsense_Mutation_p.Q204*|BNC2_uc003zmq.1_Nonsense_Mutation_p.Q260*|BNC2_uc003zmr.1_Nonsense_Mutation_p.Q283*|BNC2_uc003zmp.1_Nonsense_Mutation_p.Q274*|BNC2_uc010mij.1_Nonsense_Mutation_p.Q168*|BNC2_uc011lmv.1_Nonsense_Mutation_p.Q72*|BNC2_uc003zmo.1_Nonsense_Mutation_p.Q168*|BNC2_uc003zmj.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.Q11*|BNC2_uc003zmn.1_Nonsense_Mutation_p.Q11*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAAACTGCTGAAGGGTGATG	0.498		NaN											0	0	0	0.001984	0	6	37				
TNC	3371	broad.mit.edu	37	9	117810616	117810616	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:117810616C>T	uc004bjj.3	-	16	5137	c.4775G>A	c.(4774-4776)GGC>GAC	p.G1592D	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1592	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						ATAGCCAATGCCAGTTATGAG	0.498		NaN											0	0	0	0.003163	0	15	42				
NUP214	8021	broad.mit.edu	37	9	134026017	134026017	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:134026017G>C	uc004cag.2	+	16	2253	c.2142G>C	c.(2140-2142)CAG>CAC	p.Q714H	NUP214_uc004cah.2_Missense_Mutation_p.Q704H|NUP214_uc004cai.2_Missense_Mutation_p.Q144H|NUP214_uc004caf.1_Missense_Mutation_p.Q703H|NUP214_uc010mzf.2_Missense_Mutation_p.Q12H	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	714	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACTTTCAGAAGGAGTTGG	0.458		NaN	T	DEK|SET|ABL1	AML|T-ALL								0	0	0	0.004007	0	16	83				
VCX3B	425054	broad.mit.edu	37	X	8433508	8433508	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:8433508G>A	uc010ndo.2	+	2	324	c.17G>A	c.(16-18)AGA>AAA	p.R6K	VCX3B_uc011mht.1_Missense_Mutation_p.R6K|VCX3B_uc004csd.1_Missense_Mutation_p.R6K	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	6						nucleolus					0						CCAAAGCCGAGAGCCTCGGGA	0.612		NaN											0	0	0	0.00632	0	25	67				
DDX3X	1654	broad.mit.edu	37	X	41204468	41204468	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:41204468A>T	uc004dfe.2	+	11	1916	c.1061A>T	c.(1060-1062)GAT>GTT	p.D354V	DDX3X_uc004dff.2_Missense_Mutation_p.D354V|DDX3X_uc011mkq.1_Missense_Mutation_p.D338V|DDX3X_uc011mkr.1_Missense_Mutation_p.D354V|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	354	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						CGGATGTTGGATATGGGGTTT	0.403		NaN								HNSCC(61;0.18)			0	0	0	0.00623	0	39	176				
TFE3	7030	broad.mit.edu	37	X	48895849	48895849	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:48895849G>A	uc004dmb.3	-	4	891	c.653C>T	c.(652-654)CCA>CTA	p.P218L	TFE3_uc004dmc.3_Missense_Mutation_p.P113L|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	218					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CCCCGGCGGTGGGGTGAGGGC	0.706		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								0	0	0	0.014758	0	4	13				
ZC3H12B	340554	broad.mit.edu	37	X	64708913	64708913	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:64708913C>T	uc010nko.2	+	1	208	c.199C>T	c.(199-201)CGC>TGC	p.R67C		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	67							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CAAGCCACACCGCCAGCTCTG	0.488		NaN											0	0	0	0.001984	0	6	35				
YIPF6	286451	broad.mit.edu	37	X	67741303	67741303	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:67741303C>T	uc004dwy.2	+	5	421	c.398C>T	c.(397-399)ACC>ATC	p.T133I	YIPF6_uc011mph.1_Missense_Mutation_p.T90I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	133	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0						GGTGCAGTTACCATCACCCTC	0.403		NaN											0	0	0	0.00499	0	16	70				
FAM127A	8933	broad.mit.edu	37	X	134166743	134166743	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:134166743C>T	uc004eyd.2	+	1	411	c.330C>T	c.(328-330)GAC>GAT	p.D110D	uc004eye.1_RNA	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	110											0	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGAGGACGAGGACTTCT	0.657		NaN											0	0	0	0.004482	0	8	30				
PLEKHG5	57449	broad.mit.edu	37	1	6528318	6528318	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:6528318G>A	uc001ano.1	-	21	2847	c.2746C>T	c.(2746-2748)CGC>TGC	p.R916C	PLEKHG5_uc001ann.1_Missense_Mutation_p.R897C|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.R937C|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R421C|PLEKHG5_uc009vma.1_Missense_Mutation_p.R700C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R929C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R860C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R860C|PLEKHG5_uc001anr.1_Missense_Mutation_p.R123C	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	916					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGCGGCGGCGGAGACGG	0.677		NaN											0	0	0	0.021553	0	5	10				
MACF1	23499	broad.mit.edu	37	1	39913530	39913530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:39913530G>C	uc010oiu.1	+	47	15388	c.15257G>C	c.(15256-15258)AGA>ACA	p.R5086T	MACF1_uc010ois.1_Missense_Mutation_p.R4584T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6652	Spectrin 15.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTGAAAGAGGGCGATCA	0.448		NaN											0	0	0	0.024245	0	15	46				
LEPRE1	64175	broad.mit.edu	37	1	43215938	43215938	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43215938G>A	uc001chv.2	-	11	1752	c.1639C>T	c.(1639-1641)CGC>TGC	p.R547C	LEPRE1_uc001chw.2_Missense_Mutation_p.R547C|LEPRE1_uc001chx.3_Missense_Mutation_p.R547C	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	547					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCATGATGCGCCGCACCTTC	0.582		NaN											0	0	0	0.038147	0	8	28				
HYI	81888	broad.mit.edu	37	1	43917930	43917930	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:43917930C>G	uc001cjo.2	-	3	542	c.372G>C	c.(370-372)GAG>GAC	p.E124D	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.E51D|HYI_uc001cjn.2_Missense_Mutation_p.E124D|HYI_uc001cjp.2_Missense_Mutation_p.E51D	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	124							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCTCCATCTCAGCCTTGA	0.562		NaN											0	0	0	0.02938	0	7	27				
ZNF644	84146	broad.mit.edu	37	1	91406112	91406112	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:91406112G>C	uc001dnw.2	-	3	941	c.799C>G	c.(799-801)CAA>GAA	p.Q267E	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.Q267E	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAGAAATTGAATGAACTCT	0.348		NaN											0	0	0	0.034045	0	30	122				
SPAG17	200162	broad.mit.edu	37	1	118628687	118628687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:118628687C>G	uc001ehk.2	-	13	1688	c.1620G>C	c.(1618-1620)AAG>AAC	p.K540N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	540						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCAAAATTCTTTTGGTCCT	0.423		NaN											0	0	0	0.034045	0	27	60				
HIST2H2BF	440689	broad.mit.edu	37	1	149783666	149783666	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:149783666G>C	uc001esr.2	-	1	263	c.213C>G	c.(211-213)TTC>TTG	p.F71L	HIST2H2BF_uc010pbj.1_Missense_Mutation_p.F71L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.F71L	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf isoform a	71					nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					CGATGCGCTCGAAGATGTCGT	0.627		NaN											0	0	0	0.048971	0	41	262				
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:152276103C>A	uc001ezu.1	-	3	11295	c.11259G>T	c.(11257-11259)GAG>GAT	p.E3753D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617		NaN							Ichthyosis				1	0	6.42063e-57	0.048971	7.49792e-57	121	722				
ATP8B2	57198	broad.mit.edu	37	1	154321468	154321468	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:154321468G>T	uc001fex.2	+	28	3546	c.3546G>T	c.(3544-3546)CTG>CTT	p.L1182L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1168	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGCGGCTGAGCTCTCTCG	0.647		NaN											1	0	2.98393e-07	0.076483	3.14669e-07	24	101				
OR10T2	128360	broad.mit.edu	37	1	158368889	158368889	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:158368889C>A	uc010pih.1	-	1	368	c.368G>T	c.(367-369)CGC>CTC	p.R123L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					TGCTACATAGCGATCATATCC	0.473		NaN											1	0	1.88708e-17	0.037714	2.1461e-17	28	445				
RCSD1	92241	broad.mit.edu	37	1	167666699	167666699	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:167666699G>A	uc001gem.2	+	6	1025	c.838G>A	c.(838-840)GAG>AAG	p.E280K	RCSD1_uc010pli.1_Missense_Mutation_p.E250K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	280	RCSD.									ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GGCCCAAGAGGAGGTCCCGGA	0.612		NaN											0	0	0	0.069234	0	10	69				
RALGPS2	55103	broad.mit.edu	37	1	178753646	178753646	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:178753646G>C	uc001glz.2	+	3	489	c.151G>C	c.(151-153)GAA>CAA	p.E51Q	RALGPS2_uc001gly.1_Missense_Mutation_p.E51Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E51Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	51	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						GGTTACACCAGAAGAATATGC	0.393		NaN											0	0	0	0.0333	0	17	77				
RNASEL	6041	broad.mit.edu	37	1	182555244	182555244	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:182555244T>C	uc001gpj.1	-	1	865	c.698A>G	c.(697-699)AAT>AGT	p.N233S	RNASEL_uc009wxz.1_Missense_Mutation_p.N233S|RNASEL_uc001gpk.2_Missense_Mutation_p.N233S|RNASEL_uc009wya.1_Missense_Mutation_p.N233S	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	233	2-5A binding (P-loop) 1.|ANK 6.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TCCCCTCACATTGACATCAGC	0.517		NaN							Hereditary_Prostate_Cancer				0	0	0	0.059317	0	36	136				
NCF2	4688	broad.mit.edu	37	1	183532680	183532680	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:183532680A>T	uc001gqj.3	-	12	1342	c.1067T>A	c.(1066-1068)GTG>GAG	p.V356E	NCF2_uc010pod.1_Missense_Mutation_p.V311E|NCF2_uc010poe.1_Missense_Mutation_p.V275E|NCF2_uc001gqk.3_Missense_Mutation_p.V356E	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	356	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						CTTGTAGTGCACCTTGAGTGT	0.547		NaN											0	0	0	0.045515	0	45	384				
HMCN1	83872	broad.mit.edu	37	1	186092199	186092199	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:186092199G>A	uc001grq.1	+	81	12575	c.12346G>A	c.(12346-12348)GGG>AGG	p.G4116R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4116	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCATAAAGATGGGCGTGCAAT	0.512		NaN											0	0	0	0.059317	0	27	166				
KCNH1	3756	broad.mit.edu	37	1	211276926	211276926	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr1:211276926C>G	uc001hib.2	-	3	392	c.222G>C	c.(220-222)CTG>CTC	p.L74L	KCNH1_uc001hic.2_Silent_p.L74L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	74	Cytoplasmic (Potential).|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTTATCAGTCAGCTCCCCAT	0.279		NaN											0	0	0	0.0333	0	17	72				
CUBN	8029	broad.mit.edu	37	10	17142151	17142151	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:17142151A>G	uc001ioo.2	-	14	1670	c.1618T>C	c.(1618-1620)TCT>CCT	p.S540P		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	540	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGCAGAAGAGGAATCTCCA	0.408		NaN											0	0	0	0.028581	0	17	104				
SVIL	6840	broad.mit.edu	37	10	29777621	29777621	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:29777621G>A	uc001iut.1	-	23	5010	c.4257C>T	c.(4255-4257)AGC>AGT	p.S1419S	SVIL_uc010qdw.1_Silent_p.S333S|SVIL_uc001iuu.1_Silent_p.S993S|SVIL_uc009xlc.2_Silent_p.S211S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1419	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GGCTGACGTTGCTGAAGTTTT	0.507		NaN											0	0	0	0.080935	0	10	35				
TACC2	10579	broad.mit.edu	37	10	123843281	123843281	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr10:123843281C>T	uc001lfv.2	+	4	1626	c.1266C>T	c.(1264-1266)CTC>CTT	p.L422L	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L422L|TACC2_uc010qtv.1_Silent_p.L422L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	422						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557		NaN											0	0	0	0.048971	0	42	109				
SLC25A22	79751	broad.mit.edu	37	11	792032	792032	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:792032C>T	uc001lri.2	-	10	1197	c.855G>A	c.(853-855)CTG>CTA	p.L285L	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Silent_p.L285L|SLC25A22_uc001lrj.2_Silent_p.L285L	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	285	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	AGGCGCCCTTCAGGAAGGCCG	0.697		NaN											0	0	0	0.02938	0	5	13				
TRPM5	29850	broad.mit.edu	37	11	2439011	2439011	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:2439011C>G	uc001lwm.3	-	7	964	c.955G>C	c.(955-957)GAG>CAG	p.E319Q	TRPM5_uc010qxl.1_Missense_Mutation_p.E319Q|TRPM5_uc009ydn.2_Missense_Mutation_p.E321Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	319	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCTCCTGCTCGAAGTCATAC	0.662		NaN											0	0	0	0.02938	0	5	18				
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864	byFrequency	TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:6662141C>T	uc001mem.1	-	2	1114	c.704G>A	c.(703-705)CGG>CAG	p.R235Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	235	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587		NaN											0	0	0	0.048971	0	45	110				
OR4C6	219432	broad.mit.edu	37	11	55433539	55433539	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:55433539C>T	uc001nht.3	+	3	1162	c.897C>T	c.(895-897)CTC>CTT	p.L299L	OR4C6_uc010rik.1_Silent_p.L299L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGAAGAAACTCTGGATGAAAT	0.423		NaN											0	0	0	0.037714	0	29	55				
OR5B21	219968	broad.mit.edu	37	11	58275356	58275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:58275356C>T	uc010rki.1	-	1	223	c.223G>A	c.(223-225)GTA>ATA	p.V75I		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGGGGGCTACAGCTGATGAG	0.512		NaN											0	0	0	0.024245	0	15	71				
AHNAK	79026	broad.mit.edu	37	11	62288867	62288867	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62288867G>A	uc001ntl.2	-	5	13322	c.13022C>T	c.(13021-13023)CCT>CTT	p.P4341L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4341					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCAGCCTTAGGAAGGGTAAC	0.502		NaN											0	0	0	0.069234	0	10	388				
AHNAK	79026	broad.mit.edu	37	11	62289475	62289475	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:62289475C>G	uc001ntl.2	-	5	12714	c.12414G>C	c.(12412-12414)CTG>CTC	p.L4138L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4138					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTGGACCTTTCAGATTCAGGT	0.517		NaN											0	0	0	0.045515	0	45	329				
SAPS3	55291	broad.mit.edu	37	11	68331848	68331848	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:68331848C>A	uc001onw.2	+	9	1190	c.923C>A	c.(922-924)GCC>GAC	p.A308D	SAPS3_uc001onv.2_Missense_Mutation_p.A308D|SAPS3_uc001ony.3_Missense_Mutation_p.A308D|SAPS3_uc001onx.2_Missense_Mutation_p.A308D|SAPS3_uc009ysh.2_Missense_Mutation_p.A308D|SAPS3_uc001onu.2_Missense_Mutation_p.A308D|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Missense_Mutation_p.A15D	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	308					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			GTTCTAGAAGCCATCAGAGGA	0.458		NaN											1	0	1.08611e-07	0.080935	1.15233e-07	9	240				
PPFIA1	8500	broad.mit.edu	37	11	70172733	70172733	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:70172733G>C	uc001opo.2	+	7	937	c.739G>C	c.(739-741)GAA>CAA	p.E247Q	PPFIA1_uc001opn.1_Missense_Mutation_p.E247Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	247					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGCCACGAGGAAGACCTTGC	0.398		NaN											0	0	0	0.048971	0	291	384				
DSCAML1	57453	broad.mit.edu	37	11	117321323	117321323	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr11:117321323G>A	uc001prh.1	-	20	3832	c.3830C>T	c.(3829-3831)CCC>CTC	p.P1277L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1217	Extracellular (Potential).|Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCCCGTTGGGCTTGGTAGG	0.582		NaN											0	0	0	0.024245	0	16	114				
DYRK4	8798	broad.mit.edu	37	12	4708904	4708904	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:4708904C>G	uc001qmx.2	+	8	891	c.731C>G	c.(730-732)GCC>GGC	p.A244G	DYRK4_uc009zeh.1_Missense_Mutation_p.A359G|DYRK4_uc001qmy.1_Missense_Mutation_p.A244G	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	244	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			AAGGGCCAAGCCTCTGTTAAA	0.383		NaN											0	0	0	0.038395	0	18	80				
ANO6	196527	broad.mit.edu	37	12	45810576	45810576	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:45810576C>T	uc001roo.2	+	17	2441	c.2106C>T	c.(2104-2106)GAC>GAT	p.D702D	ANO6_uc010sld.1_Silent_p.D702D|ANO6_uc010sle.1_Silent_p.D702D|ANO6_uc010slf.1_Silent_p.D723D|ANO6_uc010slg.1_Silent_p.D684D	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	702	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TAAGAGTGGACGCATGGAAAC	0.483		NaN											0	0	0	0.020292	0	14	61				
SLC38A2	54407	broad.mit.edu	37	12	46764360	46764360	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46764360C>G	uc001rpg.2	-	4	689	c.249G>C	c.(247-249)GCG>GCC	p.A83A	SLC38A2_uc001rph.2_Intron	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	83	Regulates protein turnover upon amino acid deprivation (By similarity).|Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGCCCACAATCGCATTGCTCA	0.393		NaN											0	0	0	0.099896	0	24	105				
SLC38A2	54407	broad.mit.edu	37	12	46765071	46765071	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:46765071C>G	uc001rpg.2	-	2	446	c.6G>C	c.(4-6)AAG>AAC	p.K2N	SLC38A2_uc001rph.2_5'UTR	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	2	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTTCGGCCTTCTTCATGCTAA	0.577		NaN											0	0	0	0.048971	0	47	136				
WIF1	11197	broad.mit.edu	37	12	65448985	65448985	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:65448985C>T	uc001ssk.2	-	9	1076	c.931G>A	c.(931-933)GAG>AAG	p.E311K		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	311	EGF-like 5.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CAGCCAGGCTCGCAGACAGCT	0.413		NaN	T	HMGA2	pleomorphic salivary gland adenoma								0	0	0	0.024245	0	16	89				
ANO4	121601	broad.mit.edu	37	12	101510560	101510560	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:101510560C>A	uc010svm.1	+	25	3126	c.2554C>A	c.(2554-2556)CCT>ACT	p.P852T	ANO4_uc001thw.2_Missense_Mutation_p.P817T|ANO4_uc001thx.2_Missense_Mutation_p.P852T|ANO4_uc001thy.2_Missense_Mutation_p.P372T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	852	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CTCGGGGACTCCTCTTAAGTA	0.542		NaN								HNSCC(74;0.22)			1	0	3.62473e-10	0.062417	3.91741e-10	23	144				
EIF2B1	1967	broad.mit.edu	37	12	124109399	124109399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr12:124109399C>A	uc001ufm.2	-	7	705	c.562G>T	c.(562-564)GAG>TAG	p.E188*	EIF2B1_uc001ufn.2_Nonsense_Mutation_p.E186*	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	188					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCTGCTTTCTCCATGATGTAG	0.393		NaN											1	0	4.35082e-09	0.055883	4.6731e-09	17	74				
KLHL1	57626	broad.mit.edu	37	13	70314531	70314531	+	Silent	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:70314531A>G	uc001vip.2	-	8	2591	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	KLHL1_uc010thm.1_Silent_p.N538N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	599	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTACTTGCCATTCAATGCTG	0.318		NaN											0	0	0	0.069234	0	10	27				
DACH1	1602	broad.mit.edu	37	13	72049858	72049858	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:72049858T>A	uc010thn.1	-	10	2417	c.1994A>T	c.(1993-1995)GAT>GTT	p.D665V	DACH1_uc010tho.1_Missense_Mutation_p.D517V|DACH1_uc010thp.1_Missense_Mutation_p.D463V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	717	Potential.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGAGACTATCTGTTGAAGC	0.393		NaN											0	0	0	0.048971	0	106	80				
DOCK9	23348	broad.mit.edu	37	13	99520199	99520199	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr13:99520199C>T	uc001vnt.2	-	29	3215	c.3160G>A	c.(3160-3162)GCT>ACT	p.A1054T	DOCK9_uc001vnw.2_Missense_Mutation_p.A1053T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.A1054T|DOCK9_uc010tis.1_Missense_Mutation_p.A1053T|DOCK9_uc010tit.1_Missense_Mutation_p.A1054T|DOCK9_uc010tiq.1_Missense_Mutation_p.A18T|DOCK9_uc010afu.1_Missense_Mutation_p.A900T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1054					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCCAGGAGCAAAACAGCTA	0.403		NaN											0	0	0	0.047766	0	6	21				
MYH7	4625	broad.mit.edu	37	14	23896042	23896042	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:23896042C>T	uc001wjx.2	-	18	2094	c.1988G>A	c.(1987-1989)CGC>CAC	p.R663H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	663	Myosin head-like.|Actin-binding.		R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGGGTGGAGCGCAAGTTGGT	0.448		NaN											0	0	0	0.049695	0	18	46				
DLST	1743	broad.mit.edu	37	14	75369021	75369021	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:75369021C>G	uc001xqv.2	+	15	1413	c.1350C>G	c.(1348-1350)CTC>CTG	p.L450L	DLST_uc001xqt.2_Silent_p.L366L|DLST_uc010tuw.1_Silent_p.L364L	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	450					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAGTCCTCCTCCTGGATCTTT	0.547		NaN											0	0	0	0.069234	0	9	43				
FLRT2	23768	broad.mit.edu	37	14	86088847	86088847	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:86088847C>T	uc001xvr.2	+	2	1756	c.989C>T	c.(988-990)TCA>TTA	p.S330L	FLRT2_uc010atd.2_Missense_Mutation_p.S330L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	330	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATATCCCTTCATCTCTCAAC	0.478		NaN											0	0	0	0.048971	0	94	241				
AHNAK2	113146	broad.mit.edu	37	14	105419822	105419822	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105419822G>A	uc010axc.1	-	7	2086	c.1966C>T	c.(1966-1968)CGC>TGC	p.R656C	AHNAK2_uc001ypx.2_Missense_Mutation_p.R556C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	656						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTTTAAGCGTTTTTCATCG	0.403		NaN											0	0	0	0.048971	0	74	350				
NUDT14	256281	broad.mit.edu	37	14	105644073	105644073	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr14:105644073C>T	uc010tyn.1	-	2	196	c.82_splice	c.e2-1	p.N28_splice	NUDT14_uc001yqi.2_Splice_Site	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCACCATTCTAGAAGGGGC	0.617		NaN								HNSCC(42;0.11)			0	0	0	0.048971	0	50	159				
RYR3	6263	broad.mit.edu	37	15	33872188	33872188	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:33872188G>C	uc001zhi.2	+	13	1350	c.1280G>C	c.(1279-1281)CGC>CCC	p.R427P	RYR3_uc010bar.2_Missense_Mutation_p.R427P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	427	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAATCGCACAGCTGCC	0.562		NaN											0	0	0	0.02938	0	7	28				
SCAPER	49855	broad.mit.edu	37	15	77025725	77025725	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr15:77025725C>G	uc002bby.2	-	15	1926	c.1867G>C	c.(1867-1869)GTA>CTA	p.V623L	SCAPER_uc002bbx.2_Missense_Mutation_p.V377L|SCAPER_uc002bbz.1_Missense_Mutation_p.V494L|SCAPER_uc002bca.1_Missense_Mutation_p.V488L|SCAPER_uc002bcb.1_Missense_Mutation_p.V629L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	622	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						ATTTCATTTACCTTTAAAAAA	0.284		NaN											0	0	0	0.02938	0	7	63				
TELO2	9894	broad.mit.edu	37	16	1551483	1551483	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:1551483C>T	uc002cly.2	+	10	1635	c.1344C>T	c.(1342-1344)GAC>GAT	p.D448D		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	448						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				CTGCGGGTGACGGCGCCTCGG	0.692		NaN											0	0	0	0.105934	0	11	5				
POLR3E	55718	broad.mit.edu	37	16	22337220	22337220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:22337220G>A	uc002dkk.2	+	18	1643	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q	POLR3E_uc002dkj.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkm.2_Missense_Mutation_p.R460Q|POLR3E_uc010vbr.1_Missense_Mutation_p.R496Q|POLR3E_uc002dkl.2_Missense_Mutation_p.R496Q|POLR3E_uc010vbs.1_Missense_Mutation_p.R460Q|POLR3E_uc010vbt.1_Missense_Mutation_p.R440Q	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	496					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		CCCGGTGTGCGGATCAAGGAG	0.542		NaN											0	0	0	0.047766	0	9	22				
ZNF668	79759	broad.mit.edu	37	16	31075213	31075213	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:31075213G>A	uc010caf.2	-	2	925	c.568C>T	c.(568-570)CAC>TAC	p.H190Y	ZNF668_uc002eao.2_Missense_Mutation_p.H190Y|ZNF668_uc010cag.1_Missense_Mutation_p.H190Y	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	190	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						AGGCCAGCGTGAGTACGCCGG	0.657		NaN											0	0	0	0.047766	0	9	14				
CNTNAP4	85445	broad.mit.edu	37	16	76569457	76569457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:76569457G>A	uc002feu.1	+	20	3156	c.2771G>A	c.(2770-2772)AGA>AAA	p.R924K	CNTNAP4_uc002fev.1_Missense_Mutation_p.R788K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R851K|CNTNAP4_uc002fex.1_Missense_Mutation_p.R927K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	924	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						ACGGCCACCAGACAGAGAGGC	0.483		NaN											0	0	0	0.043863	0	18	77				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:7578190T>C	uc002gim.2	-	6	853	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.050027	0	31	17		Valid		
USP43	124739	broad.mit.edu	37	17	9631804	9631804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:9631804G>T	uc010cod.2	+	15	2869	c.2869G>T	c.(2869-2871)GAG>TAG	p.E957*	USP43_uc002gma.3_Nonsense_Mutation_p.E646*|USP43_uc010vva.1_Nonsense_Mutation_p.E952*|USP43_uc010coe.2_Nonsense_Mutation_p.E754*|USP43_uc002gmc.3_Nonsense_Mutation_p.E469*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	957					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GAACTGGAAGGAGAGCTTCCA	0.552		NaN											1	0	9.05144e-12	0.105934	1.00315e-11	12	28				
CPD	1362	broad.mit.edu	37	17	28778804	28778804	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:28778804T>A	uc002hfb.1	+	14	3160	c.3145T>A	c.(3145-3147)TGT>AGT	p.C1049S	CPD_uc010wbo.1_Missense_Mutation_p.C802S|CPD_uc010wbp.1_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1049	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AGAGAAAGACTGTACTTCAAA	0.388		NaN											0	0	0	0.105934	0	14	91				
RARA	5914	broad.mit.edu	37	17	38510626	38510626	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:38510626C>T	uc002huk.1	+	7	1335	c.880C>T	c.(880-882)CGG>TGG	p.R294W	RARA_uc002hul.3_Missense_Mutation_p.R294W|RARA_uc010wfe.1_Missense_Mutation_p.R197W|RARA_uc002hun.1_Missense_Mutation_p.R289W	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	294	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCTGAACCGGACCCAGAT	0.642		NaN	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								0	0	0	0.076483	0	21	93				
HOXB4	3214	broad.mit.edu	37	17	46654110	46654110	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:46654110G>A	uc002inp.2	-	2	792	c.730C>T	c.(730-732)CCC>TCC	p.P244S	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTCCATTGGGCCGGCCAGGG	0.697		NaN											0	0	0	0.080935	0	11	50				
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:58952079C>T	uc002iyv.3	+	9	750	c.641C>T	c.(640-642)ACG>ATG	p.T214M	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	214						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328		NaN											0	0	0	0.080935	0	10	51				
CD300LF	146722	broad.mit.edu	37	17	72691301	72691301	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr17:72691301G>A	uc002jlg.2	-	7	910	c.807C>T	c.(805-807)CTC>CTT	p.L269L	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.L272L|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_3'UTR|CD300LF_uc002jli.2_3'UTR|CD300LF_uc010wra.1_Silent_p.L284L	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	269	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						GGTGGCTACTGAGGTGGCCCA	0.602		NaN											0	0	0	0.030593	0	26	90				
CDH2	1000	broad.mit.edu	37	18	25593677	25593677	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:25593677C>T	uc002kwg.2	-	3	828	c.369G>A	c.(367-369)CTG>CTA	p.L123L	CDH2_uc010xbn.1_Silent_p.L92L	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	123					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						AGGTTGGCTTCAGGCTCAATT	0.418		NaN											0	0	0	0.048971	0	51	205				
TCF4	6925	broad.mit.edu	37	18	52946874	52946874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:52946874G>C	uc002lfz.2	-	9	1175	c.563C>G	c.(562-564)TCA>TGA	p.S188*	TCF4_uc002lfw.3_Nonsense_Mutation_p.S28*|TCF4_uc010xdu.1_Nonsense_Mutation_p.S58*|TCF4_uc010xdv.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfx.2_Nonsense_Mutation_p.S117*|TCF4_uc010xdw.1_Nonsense_Mutation_p.S58*|TCF4_uc002lfy.2_Nonsense_Mutation_p.S146*|TCF4_uc010xdx.1_Nonsense_Mutation_p.S164*|TCF4_uc010dph.1_Nonsense_Mutation_p.S188*|TCF4_uc010xdy.1_Nonsense_Mutation_p.S164*|TCF4_uc002lga.2_Nonsense_Mutation_p.S290*|TCF4_uc002lgb.1_Nonsense_Mutation_p.S28*|TCF4_uc010dpi.2_Nonsense_Mutation_p.S194*|TCF4_uc002lgc.3_Nonsense_Mutation_p.S109*|TCF4_uc002lfv.2_Translation_Start_Site	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	188					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGTGCTTGCTGATGGAGCATA	0.478		NaN											0	0	0	0.069234	0	9	60				
SERPINB13	5275	broad.mit.edu	37	18	61255985	61255985	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:61255985C>G	uc002ljc.2	+	2	252	c.84C>G	c.(82-84)TTC>TTG	p.F28L	SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.F28L|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	28					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						GCAACATCTTCTTTTCCCCTG	0.532		NaN											0	0	0	0.043863	0	19	53				
TMX3	54495	broad.mit.edu	37	18	66381117	66381117	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:66381117C>T	uc002lkf.2	-	2	202	c.67G>A	c.(67-69)GTC>ATC	p.V23I	CCDC102B_uc002lkk.2_5'Flank|TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.V23I|TMX3_uc002lkg.3_Missense_Mutation_p.V23I|CCDC102B_uc002lkh.2_5'Flank	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	23					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1						CCTTTACAGACGACCATATCA	0.294		NaN											0	0	0	0.009096	0	4	15				
ZNF516	9658	broad.mit.edu	37	18	74153297	74153297	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:74153297C>T	uc010dqx.1	-	2	1949	c.1714G>A	c.(1714-1716)GGC>AGC	p.G572S	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGCGGAGCCAGGGCTGCTG	0.736		NaN											0	0	0	0.02938	0	6	15				
ZNF555	148254	broad.mit.edu	37	19	2852822	2852822	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:2852822G>A	uc002lwo.2	+	4	848	c.759G>A	c.(757-759)GAG>GAA	p.E253E	ZNF555_uc002lwn.3_Silent_p.E252E	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCGGAGAGAAGCCATATA	0.413		NaN											0	0	0	0.09319	0	12	64				
OR2Z1	284383	broad.mit.edu	37	19	8842207	8842207	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:8842207G>A	uc010xkg.1	+	1	817	c.817G>A	c.(817-819)GTG>ATG	p.V273M		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						GCAGGATAACGTGGTTTCCCT	0.537		NaN											0	0	0	0.108266	0	27	160				
CARM1	10498	broad.mit.edu	37	19	11032381	11032381	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:11032381C>A	uc002mpz.2	+	16	1901	c.1775C>A	c.(1774-1776)TCC>TAC	p.S592Y	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S352Y	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	592	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						CCCGCCATCTCCATGGCGTCG	0.652		NaN											1	0	5.66738e-07	0.086207	5.90493e-07	34	156				
ZNF714	148206	broad.mit.edu	37	19	21281118	21281118	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:21281118G>A	uc002npo.3	+	3	403	c.43_splice	c.e3+1	p.A15_splice	ZNF714_uc002npl.2_Splice_Site|ZNF714_uc010ecp.1_Splice_Site|ZNF714_uc002npn.2_Splice_Site	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTCTTCTTGGGTGAGAATAAC	0.328		NaN											0	0	0	0.069288	0	22	65				
ZNF99	7652	broad.mit.edu	37	19	22939544	22939544	+	Missense_Mutation	SNP	A	A	C	rs58378942		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:22939544A>C	uc010xrh.1	-	7	2627	c.2627T>G	c.(2626-2628)ATG>AGG	p.M876R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTCATAAGGGTTGA	0.343		NaN											0	0	0	0.004672	0	3	69				
ARHGEF1	9138	broad.mit.edu	37	19	42410144	42410144	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:42410144G>A	uc002orx.2	+	26	2567	c.2458G>A	c.(2458-2460)GAG>AAG	p.E820K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E787K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E658K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E835K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E802K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E574K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E479K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E264K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	820					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCAGGCCCCGAGGGCCAGCT	0.512		NaN											0	0	0	0.034045	0	26	125				
ZNF285	26974	broad.mit.edu	37	19	44891096	44891096	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:44891096G>A	uc002ozd.3	-	4	1398	c.1311C>T	c.(1309-1311)TTC>TTT	p.F437F	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.F444F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	437	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TACATTGGCTGAAGCCCTTTC	0.473		NaN											0	0	0	0.055883	0	21	109				
ZNF813	126017	broad.mit.edu	37	19	53994369	53994369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:53994369G>T	uc002qbu.2	+	4	1011	c.883G>T	c.(883-885)GGA>TGA	p.G295*	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.398		NaN											1	0	1.01871e-10	0.049695	1.11482e-10	19	119				
LILRA2	11027	broad.mit.edu	37	19	55085807	55085807	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55085807C>T	uc002qgg.3	+	3	199	c.110C>T	c.(109-111)TCT>TTT	p.S37F	LILRA2_uc010ern.2_Missense_Mutation_p.S37F|LILRA2_uc002qgf.2_Missense_Mutation_p.S37F|LILRA2_uc010yfe.1_Missense_Mutation_p.S37F|LILRA2_uc010yff.1_Missense_Mutation_p.S25F|LILRA2_uc010ero.2_Missense_Mutation_p.S25F|LILRA2_uc010yfg.1_Missense_Mutation_p.S37F	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	37	Extracellular (Potential).|Ig-like C2-type 1.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCAGGCTCTGTGATCATC	0.542		NaN											0	0	0	0.048971	0	99	157				
NLRP2	55655	broad.mit.edu	37	19	55493697	55493697	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:55493697C>T	uc002qij.2	+	6	717	c.631C>T	c.(631-633)CTG>TTG	p.L211L	NLRP2_uc010yfp.1_Silent_p.L188L|NLRP2_uc010esn.2_Silent_p.L187L|NLRP2_uc010eso.2_Silent_p.L208L|NLRP2_uc010esp.2_Silent_p.L189L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	211	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGGTGGTGCTGTATGGTCC	0.517		NaN											0	0	0	0.048971	0	63	125				
ZIM3	114026	broad.mit.edu	37	19	57647056	57647056	+	Missense_Mutation	SNP	G	G	C	rs150862431		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr19:57647056G>C	uc002qnz.1	-	5	1035	c.649C>G	c.(649-651)CAC>GAC	p.H217D		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	217	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTCTGCGTGAGTTTTCTGA	0.428		NaN											0	0	0	0.092188	0	40	209				
MRPL35	51318	broad.mit.edu	37	2	86434448	86434448	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:86434448A>C	uc002srg.3	+	3	434	c.376A>C	c.(376-378)AAG>CAG	p.K126Q	MRPL35_uc002srf.3_Missense_Mutation_p.K126Q	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	126					translation	mitochondrial ribosome	structural constituent of ribosome				0						GGTGAGGAGAAAGGTGAGTCT	0.294		NaN											0	0	0	0.069288	0	20	56				
IMP4	92856	broad.mit.edu	37	2	131103630	131103630	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:131103630G>C	uc002tra.1	+	7	651	c.634G>C	c.(634-636)GAT>CAT	p.D212H		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	212	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					CGTGCCCAAAGATGACAGCCA	0.592		NaN											0	0	0	0.038395	0	18	89				
TMEM163	81615	broad.mit.edu	37	2	135308215	135308215	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:135308215G>A	uc002ttx.2	-	4	450	c.384C>T	c.(382-384)GAC>GAT	p.D128D	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	128	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGGACGTCCAGGATGG	0.502		NaN											0	0	0	0.080935	0	11	76				
NXPH2	11249	broad.mit.edu	37	2	139428760	139428761	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:139428760_139428761GT>AA	uc002tvi.2	-	2	526_527	c.526_527AC>TT	c.(526-528)ACC>TTC	p.T176F		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	176	IV (linker domain).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGTCTCCAAGGTAGACTGGGGG	0.47		NaN											0	0	0	0.004672	0	9	39				
SCN3A	6328	broad.mit.edu	37	2	166003482	166003482	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:166003482C>G	uc002ucx.2	-	12	1930	c.1438G>C	c.(1438-1440)GAG>CAG	p.E480Q	SCN3A_uc002ucy.2_Missense_Mutation_p.E480Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E480Q|SCN3A_uc002uda.1_Missense_Mutation_p.E349Q|SCN3A_uc002udb.1_Missense_Mutation_p.E349Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	480						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TCCAACAGCTCTCCTAACCCA	0.443		NaN											0	0	0	0.059317	0	33	85				
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:179411904G>A	uc010zfg.1	-	289	86868	c.86644C>T	c.(86644-86646)CGT>TGT	p.R28882C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22577C|TTN_uc010zfi.1_Missense_Mutation_p.R22510C|TTN_uc010zfj.1_Missense_Mutation_p.R22385C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29809							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTATTACGTTCTTTCTTC	0.423		NaN											0	0	0	0.048971	0	56	215				
GTF3C3	9330	broad.mit.edu	37	2	197650253	197650253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr2:197650253G>C	uc002uts.2	-	7	1043	c.953C>G	c.(952-954)TCA>TGA	p.S318*	GTF3C3_uc010zgu.1_Nonsense_Mutation_p.S318*|GTF3C3_uc002utu.2_Nonsense_Mutation_p.S318*|GTF3C3_uc002utt.3_5'UTR	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	318	TPR 5.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CTGGTGTTTTGAGAAAGCTTC	0.343		NaN											0	0	0	0.080935	0	11	48				
C20orf96	140680	broad.mit.edu	37	20	256641	256641	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:256641G>C	uc002wde.1	-	10	1138	c.999C>G	c.(997-999)GTC>GTG	p.V333V	C20orf96_uc002wdc.2_Silent_p.V280V|C20orf96_uc002wdd.2_Silent_p.V298V|C20orf96_uc010zpi.1_Silent_p.V280V|C20orf96_uc010zpj.1_3'UTR|C20orf96_uc010zpk.1_3'UTR	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	hypothetical protein LOC140680	333											0		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTCAAATATGACCTCTCGGG	0.512		NaN											0	0	0	0.038395	0	18	80				
SIRPB2	284759	broad.mit.edu	37	20	1459226	1459226	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:1459226A>C	uc002wfg.2	-	3	706	c.478T>G	c.(478-480)TGG>GGG	p.W160G	SIRPB2_uc002wfh.3_Missense_Mutation_p.W62G|SIRPB2_uc010zpr.1_Missense_Mutation_p.W22G	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	160	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0						TGGATGATCCACAGGTCTGGT	0.443		NaN											0	0	0	0.069234	0	10	76				
CRNKL1	51340	broad.mit.edu	37	20	20026049	20026049	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:20026049C>T	uc002wrs.2	-	7	1219	c.1187G>A	c.(1186-1188)CGG>CAG	p.R396Q		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	396	HAT 6.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						ATACACTTTCCGTGCATGGGC	0.418		NaN											0	0	0	0.104719	0	44	190				
TGM2	7052	broad.mit.edu	37	20	36758657	36758657	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:36758657C>T	uc002xhr.2	-	13	2128	c.2028G>A	c.(2026-2028)GTG>GTA	p.V676V	TGM2_uc002xhq.2_Silent_p.V277V|TGM2_uc010zvx.1_Silent_p.V595V|TGM2_uc010zvy.1_Silent_p.V616V	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	676					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGAAGCCCTTCACAGCCTTCA	0.587		NaN											0	0	0	0.009096	0	4	31				
CDH22	64405	broad.mit.edu	37	20	44856245	44856245	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:44856245A>T	uc002xrm.2	-	3	973	c.572T>A	c.(571-573)ATG>AAG	p.M191K	CDH22_uc010ghk.1_Missense_Mutation_p.M191K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	191	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				ATCCGAGGCCATCACCTGCAT	0.682		NaN											0	0	0	0.043863	0	12	5				
ZNF831	128611	broad.mit.edu	37	20	57767955	57767955	+	Silent	SNP	G	G	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr20:57767955G>T	uc002yan.2	+	1	1881	c.1881G>T	c.(1879-1881)ACG>ACT	p.T627T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGATGAGACGTTCAAAAGGA	0.592		NaN											1	0	2.68362e-12	0.09319	2.99327e-12	11	85				
TIAM1	7074	broad.mit.edu	37	21	32575277	32575277	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:32575277C>T	uc002yow.1	-	13	2912	c.2440G>A	c.(2440-2442)GAA>AAA	p.E814K	TIAM1_uc011adk.1_Missense_Mutation_p.E814K|TIAM1_uc011adl.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	814	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATTTTGTTTTCTATTAGAAAT	0.378		NaN											0	0	0	0.030593	0	26	207				
ITSN1	6453	broad.mit.edu	37	21	35255954	35255954	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:35255954G>A	uc002yta.1	+	36	4923	c.4655G>A	c.(4654-4656)CGA>CAA	p.R1552Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.R1547Q|ITSN1_uc002ytj.2_Missense_Mutation_p.R1491Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_RNA|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1552	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						TATACTCTCCGAGCAGAAAGC	0.537		NaN											0	0	0	0.037714	0	29	199				
MCM3AP	8888	broad.mit.edu	37	21	47674341	47674341	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr21:47674341C>T	uc002zir.1	-	19	4137	c.4101G>A	c.(4099-4101)CCG>CCA	p.P1367P	MCM3AP_uc002zip.1_Silent_p.P108P|MCM3AP_uc002ziq.1_Silent_p.P294P	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1367					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCTCTACATCCGGCAACACCA	0.617		NaN											0	0	0	0.047766	0	9	153				
UPB1	51733	broad.mit.edu	37	22	24909450	24909450	+	Missense_Mutation	SNP	C	C	A	rs138608016		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:24909450C>A	uc003aaf.2	+	5	739	c.618C>A	c.(616-618)AAC>AAA	p.N206K	UPB1_uc003aae.2_Missense_Mutation_p.N138K|UPB1_uc011ajt.1_Missense_Mutation_p.N206K	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	206	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.N206N(1)		ovary(2)	2	Colorectal(2;0.0339)					GTGATTTCAACGAGGTGAGCC	0.512		NaN											1	0	5.21738e-30	0.048971	6.01208e-30	76	49				
AP1B1	162	broad.mit.edu	37	22	29730359	29730359	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr22:29730359G>C	uc003afj.2	-	17	2388	c.2204C>G	c.(2203-2205)TCA>TGA	p.S735*	AP1B1_uc003afi.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afk.2_Nonsense_Mutation_p.S728*|AP1B1_uc003afl.2_Intron|AP1B1_uc003afh.2_5'Flank|AP1B1_uc011ako.1_Nonsense_Mutation_p.S288*|SNORD125_uc010gvn.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	735					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAAGGTGCCTGAGATCTCCAG	0.617		NaN											0	0	0	0.09319	0	13	37				
MAPKAPK3	7867	broad.mit.edu	37	3	50684226	50684226	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50684226C>A	uc003day.1	+	11	1481	c.885C>A	c.(883-885)ATC>ATA	p.I295I	MAPKAPK3_uc003daz.1_Silent_p.I295I|MAPKAPK3_uc003dba.1_Silent_p.I295I|MAPKAPK3_uc010hlr.1_Silent_p.I295I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	295	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCTGACCATCACTCAGTTCA	0.612		NaN											1	0	1.5739e-10	0.028581	1.71161e-10	14	70				
MAPKAPK3	7867	broad.mit.edu	37	3	50685381	50685381	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:50685381C>T	uc003day.1	+	13	1649	c.1053C>T	c.(1051-1053)ATC>ATT	p.I351I	MAPKAPK3_uc003daz.1_Silent_p.I351I|MAPKAPK3_uc003dba.1_Silent_p.I351I|MAPKAPK3_uc010hlr.1_Silent_p.I351I	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	351					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGTGAAGATCAAGGACCTGA	0.552		NaN											0	0	0	0.09836	0	42	147				
SLMAP	7871	broad.mit.edu	37	3	57827025	57827025	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:57827025G>A	uc003dje.1	+	3	552	c.347_splice	c.e3-1	p.V116_splice	SLMAP_uc003djc.1_Splice_Site_p.V116_splice|SLMAP_uc003djd.1_Splice_Site_p.V116_splice|SLMAP_uc003djf.1_Splice_Site_p.V116_splice	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GTTTCAACCAGTTACCCATGG	0.318		NaN											0	0	0	0.048971	0	51	20				
CBLB	868	broad.mit.edu	37	3	105378062	105378062	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:105378062C>T	uc003dwc.2	-	19	3023	c.2701G>A	c.(2701-2703)GCA>ACA	p.A901T	CBLB_uc003dwa.2_Missense_Mutation_p.A116T|CBLB_uc011bhi.1_Missense_Mutation_p.A879T	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	901	Pro-rich.|Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						CTGGCTGGTGCCTGTGAACCA	0.443		NaN	Mis S		AML								0	0	0	0.014758	0	4	74				
DNAJB11	51726	broad.mit.edu	37	3	186299223	186299223	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr3:186299223G>C	uc003fqi.2	+	5	740	c.520G>C	c.(520-522)GAG>CAG	p.E174Q		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	174					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTGTCGGCAAGAGATGCGGAC	0.517		NaN											0	0	0	0.069456	0	31	139				
FAM193A	8603	broad.mit.edu	37	4	2692602	2692602	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:2692602C>T	uc010icl.2	+	13	2186	c.1835C>T	c.(1834-1836)ACG>ATG	p.T612M	FAM193A_uc010ick.2_Missense_Mutation_p.T812M|FAM193A_uc003gfd.2_Missense_Mutation_p.T612M|FAM193A_uc011bvm.1_Missense_Mutation_p.T634M|FAM193A_uc011bvn.1_Missense_Mutation_p.T612M|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.T466M	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	612										ovary(3)	3						GTCATGGCCACGTCATCAGCC	0.448		NaN											0	0	0	0.0333	0	15	92				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:71347033C>T	uc011cat.1	+	4	860	c.572C>T	c.(571-573)GCC>GTC	p.A191V	MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	191	2.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587		NaN											0	0	0	0.047766	0	6	165				
AFM	173	broad.mit.edu	37	4	74363404	74363404	+	Silent	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:74363404C>G	uc003hhb.2	+	10	1258	c.1227C>G	c.(1225-1227)CTC>CTG	p.L409L		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	409	Albumin 3.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAAAGCCTCAAGATGGTAC	0.338		NaN											0	0	0	0.024245	0	13	29				
SEC31A	22872	broad.mit.edu	37	4	83776177	83776177	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:83776177G>A	uc003hnf.2	-	17	2051	c.1887C>T	c.(1885-1887)ATC>ATT	p.I629I	SEC31A_uc003hne.2_Silent_p.I362I|SEC31A_uc011ccl.1_Silent_p.I590I|SEC31A_uc003hnl.2_Silent_p.I590I|SEC31A_uc003hng.2_Silent_p.I629I|SEC31A_uc003hnh.2_Silent_p.I629I|SEC31A_uc003hni.2_Silent_p.I629I|SEC31A_uc003hnj.2_Silent_p.I590I|SEC31A_uc011ccm.1_Silent_p.I624I|SEC31A_uc011ccn.1_Silent_p.I629I|SEC31A_uc003hnk.2_Silent_p.I590I|SEC31A_uc003hnm.2_Silent_p.I629I|SEC31A_uc003hnn.1_Silent_p.I629I	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	629					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				CCACTGCAGTGATGAGCTTGA	0.348		NaN											0	0	0	0.02938	0	7	34				
MTTP	4547	broad.mit.edu	37	4	100532321	100532321	+	Silent	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:100532321G>C	uc003hvc.3	+	14	2047	c.1791G>C	c.(1789-1791)CTG>CTC	p.L597L	MTTP_uc011cej.1_Silent_p.L624L	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	597	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GTCGAGTTCTGAAGGAAATGG	0.393		NaN											0	0	0	0.0918	0	22	86				
CENPE	1062	broad.mit.edu	37	4	104080302	104080302	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:104080302G>C	uc003hxb.1	-	22	2556	c.2466C>G	c.(2464-2466)TTC>TTG	p.F822L	CENPE_uc003hxc.1_Missense_Mutation_p.F797L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	822	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGGGTTTTGAAATTTTGGA	0.348		NaN											0	0	0	0.069234	0	11	71				
ANK2	287	broad.mit.edu	37	4	114290876	114290876	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:114290876G>A	uc003ibe.3	+	43	11625	c.11525G>A	c.(11524-11526)CGG>CAG	p.R3842Q	ANK2_uc003ibd.3_Missense_Mutation_p.R1748Q|ANK2_uc003ibf.3_Missense_Mutation_p.R1757Q|ANK2_uc011cgc.1_Missense_Mutation_p.R933Q|ANK2_uc003ibg.3_Missense_Mutation_p.R741Q|ANK2_uc003ibh.3_Missense_Mutation_p.R431Q|ANK2_uc011cgd.1_Missense_Mutation_p.R1144Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3809					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTCTCCGCGGAAAACCAGC	0.532		NaN											0	0	0	0.080935	0	11	68				
FAT4	79633	broad.mit.edu	37	4	126336800	126336800	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr4:126336800A>C	uc003ifj.3	+	5	6682	c.6682A>C	c.(6682-6684)ACT>CCT	p.T2228P	FAT4_uc011cgp.1_Missense_Mutation_p.T526P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2228	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTACCATTTAACTGTTCAGGC	0.438		NaN											0	0	0	0.099896	0	25	121				
FASTKD3	79072	broad.mit.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:7867809C>T	uc003jeb.2	-	2	525	c.388G>A	c.(388-390)GCA>ACA	p.A130T	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						GCTCCTGCTGCCATAGTGTCA	0.418		NaN											0	0	0	0.020292	0	14	61				
ELOVL7	79993	broad.mit.edu	37	5	60083198	60083198	+	Silent	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:60083198C>T	uc003jsi.3	-	3	227	c.27G>A	c.(25-27)AGG>AGA	p.R9R	ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.R9R|ELOVL7_uc003jsj.3_5'UTR	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	9					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GATGCACAGTCCTCGATGTAA	0.338		NaN											0	0	0	0.105934	0	11	59				
GPR98	84059	broad.mit.edu	37	5	89985850	89985850	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:89985850A>T	uc003kju.2	+	30	6759	c.6663A>T	c.(6661-6663)GCA>GCT	p.A2221A	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2221	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACAGAGGCAGTCATTATTA	0.378		NaN											0	0	0	0.021553	0	4	12				
TRIM36	55521	broad.mit.edu	37	5	114469698	114469698	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:114469698C>G	uc003kqs.2	-	8	1902	c.1393G>C	c.(1393-1395)GAG>CAG	p.E465Q	TRIM36_uc011cwc.1_Missense_Mutation_p.E453Q|TRIM36_uc003kqt.2_Missense_Mutation_p.E310Q	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	465	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACTTCTATCTCATTCCATGAC	0.363		NaN											0	0	0	0.020292	0	14	62				
PCDHA1	56147	broad.mit.edu	37	5	140167231	140167231	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr5:140167231G>A	uc003lhb.2	+	1	1356	c.1356G>A	c.(1354-1356)GCG>GCA	p.A452A	PCDHA1_uc003lha.2_Silent_p.A452A|PCDHA1_uc003lgz.2_Silent_p.A452A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCTGCGTTCG	0.682		NaN											0	0	0	0.104719	0	40	147				
HLA-A	3105	broad.mit.edu	37	6	29911314	29911314	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:29911314C>T	uc003nol.2	+	3	613	c.613C>T	c.(613-615)CGC>TGC	p.R205C	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.R84C|HLA-A_uc003nok.2_Missense_Mutation_p.R84C|HLA-A_uc003non.2_Missense_Mutation_p.R205C|HLA-A_uc003noo.2_Missense_Mutation_p.R205C|HLA-A_uc010jrr.2_Missense_Mutation_p.R205C|HLA-A_uc003nom.2_Missense_Mutation_p.R84C|HLA-A_uc010klp.2_Missense_Mutation_p.R177C|HLA-A_uc011dmc.1_Missense_Mutation_p.R84C|HLA-A_uc011dmd.1_Missense_Mutation_p.R84C	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	205	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GACGCTGCAGCGCACGGGTAC	0.652		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.047766	0	8	80				
FKBP5	2289	broad.mit.edu	37	6	35554818	35554818	+	Missense_Mutation	SNP	T	T	C	rs61753297		TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:35554818T>C	uc011dte.1	-	8	1036	c.833A>G	c.(832-834)TAC>TGC	p.Y278C	FKBP5_uc003okx.2_Missense_Mutation_p.Y278C|FKBP5_uc011dtf.1_Missense_Mutation_p.Y99C|FKBP5_uc003oky.2_Missense_Mutation_p.Y278C|FKBP5_uc003okz.2_Missense_Mutation_p.T248A	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	278	TPR 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						CACCTTGAAGTATACGGTTCC	0.408		NaN											0	0	0	0.048971	0	95	91				
POPDC3	64208	broad.mit.edu	37	6	105609536	105609536	+	Silent	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:105609536T>C	uc003prb.2	-	2	651	c.249A>G	c.(247-249)GTA>GTG	p.V83V	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	83	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGACAAACAGTACAAAATTCC	0.433		NaN											0	0	0	0.048971	0	90	100				
T	6862	broad.mit.edu	37	6	166571980	166571980	+	Silent	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr6:166571980C>A	uc003quu.1	-	9	1624	c.1131G>T	c.(1129-1131)CGG>CGT	p.R377R	T_uc003qut.1_Silent_p.R378R|T_uc003quv.1_Silent_p.R319R	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	377					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGGGGGAGCCCCGGAAGAACT	0.706		NaN							Chordoma_Familial_Clustering_of				1	0	3.32936e-07	0.038395	3.48981e-07	16	51				
FERD3L	222894	broad.mit.edu	37	7	19184975	19184975	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:19184975T>C	uc003suo.1	-	1	70	c.11A>G	c.(10-12)TAT>TGT	p.Y4C	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	4					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						GCTCTCCGGATAGGCCGCCAT	0.642		NaN											0	0	0	0.09319	0	11	60				
PDE1C	5137	broad.mit.edu	37	7	31862705	31862705	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:31862705T>C	uc003tcm.1	-	14	2033	c.1564A>G	c.(1564-1566)AGG>GGG	p.R522G	PDE1C_uc003tcn.1_Missense_Mutation_p.R522G|PDE1C_uc003tco.1_Missense_Mutation_p.R582G|PDE1C_uc003tcr.2_Missense_Mutation_p.R522G|PDE1C_uc003tcs.2_Missense_Mutation_p.R522G	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	522					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ACCTTGGCCCTCCATCTCTCC	0.458		NaN											0	0	0	0.074837	0	35	170				
SFRP4	6424	broad.mit.edu	37	7	37955842	37955842	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:37955842C>A	uc003tfo.3	-	1	684	c.298G>T	c.(298-300)GTG>TTG	p.V100L		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	100	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CGTTGGCACACCGACTTGCAC	0.627		NaN											1	0	5.03518e-11	0.043863	5.54508e-11	17	60				
C7orf36	57002	broad.mit.edu	37	7	39612174	39612174	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:39612174G>C	uc003thc.3	+	3	559	c.550G>C	c.(550-552)GAA>CAA	p.E184Q		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	184											0						TTCATATGTAGAATGTTGTAG	0.393		NaN											0	0	0	0.049695	0	20	92				
GRM8	2918	broad.mit.edu	37	7	126544099	126544099	+	Silent	SNP	T	T	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:126544099T>A	uc003vlr.2	-	4	1256	c.945A>T	c.(943-945)ATA>ATT	p.I315I	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.I315I|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Silent_p.I36I	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	315	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGGTGCTATTTTGGATC	0.403		NaN								HNSCC(24;0.065)			0	0	0	0.059317	0	35	121				
LRGUK	136332	broad.mit.edu	37	7	133812300	133812300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:133812300C>A	uc003vrm.1	+	1	196	c.180C>A	c.(178-180)TAC>TAA	p.Y60*		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	60							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCTCCTCCTACCTGCTCCAGC	0.597		NaN											1	0	1.17739e-12	0.108266	1.32172e-12	26	154				
ARHGEF5	7984	broad.mit.edu	37	7	144062382	144062382	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr7:144062382G>A	uc003wel.2	+	2	2738	c.2620G>A	c.(2620-2622)GGT>AGT	p.G874S	ARHGEF5_uc003wek.2_Missense_Mutation_p.G874S|ARHGEF5_uc003wem.2_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	874					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					GAACTCAGGGGGTCATGCCAA	0.612		NaN											0	0	0	0.048971	0	74	140				
MCPH1	79648	broad.mit.edu	37	8	6357451	6357451	+	Splice_Site	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:6357451G>A	uc003wqi.2	+	12	2282	c.2214_splice	c.e12+1	p.P738_splice	ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin							microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGCAGCTCCCGTAAGTCAGAT	0.428		NaN											0	0	0	0.020292	0	15	50				
KCNU1	157855	broad.mit.edu	37	8	36793051	36793051	+	Silent	SNP	A	A	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:36793051A>T	uc010lvw.2	+	27	3150	c.3063A>T	c.(3061-3063)CCA>CCT	p.P1021P		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1021	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACCCGGCCAGCCAATGAGT	0.458		NaN											0	0	0	0.048971	0	71	103				
POP1	10940	broad.mit.edu	37	8	99168597	99168597	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr8:99168597G>A	uc003yij.3	+	15	2477	c.2377G>A	c.(2377-2379)GAA>AAA	p.E793K	POP1_uc011lgv.1_Missense_Mutation_p.E793K|POP1_uc003yik.2_Missense_Mutation_p.E793K	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	793					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGGCCAGTGAAAACCATGT	0.512		NaN											0	0	0	0.069456	0	35	216				
ALDOB	229	broad.mit.edu	37	9	104192127	104192127	+	Silent	SNP	G	G	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr9:104192127G>A	uc004bbk.2	-	3	316	c.234C>T	c.(232-234)ATC>ATT	p.I78I		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	78					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CGTGGAAAAGGATCACACCCC	0.517		NaN											0	0	0	0.048971	0	151	95				
SLC7A3	84889	broad.mit.edu	37	X	70149567	70149567	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:70149567G>C	uc004dyn.2	-	2	439	c.281C>G	c.(280-282)TCT>TGT	p.S94C	SLC7A3_uc004dyo.2_Missense_Mutation_p.S94C	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	94	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCGAACCAGAACGGGGAAC	0.542		NaN											0	0	0	0.080935	0	10	16				
PHKA1	5255	broad.mit.edu	37	X	71839145	71839145	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:71839145C>T	uc004eax.3	-	20	2449	c.2148G>A	c.(2146-2148)ATG>ATA	p.M716I	PHKA1_uc004eay.3_Missense_Mutation_p.M716I|PHKA1_uc011mqi.1_Missense_Mutation_p.M657I	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	716					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TAGGAAGATACATGTGAACAT	0.388		NaN											0	0	0	0.069234	0	10	4				
MAGEE2	139599	broad.mit.edu	37	X	75003748	75003748	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:75003748A>G	uc004ecj.1	-	1	1324	c.1139T>C	c.(1138-1140)CTT>CCT	p.L380P		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	380	MAGE 2.									ovary(1)|skin(1)	2						TTGCTGGACAAGGAGGTAGAT	0.443		NaN											0	0	0	0.074837	0	38	82				
PAK3	5063	broad.mit.edu	37	X	110463610	110463610	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:110463610C>A	uc004epa.2	+	15	1642	c.1615C>A	c.(1615-1617)CCT>ACT	p.P539T	PAK3_uc010npt.1_Missense_Mutation_p.P524T|PAK3_uc010npu.1_Missense_Mutation_p.P524T|PAK3_uc004eoz.2_Missense_Mutation_p.P524T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P560T|PAK3_uc010npw.1_Missense_Mutation_p.P545T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	539					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						ATTAGCCAAGCCTCTCTCCAG	0.418		NaN								TSP Lung(19;0.15)			1	0	0.000274275	0.047766	0.00028239	9	16				
STAG2	10735	broad.mit.edu	37	X	123200039	123200039	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:123200039C>T	uc004etz.3	+	21	2450	c.2111C>T	c.(2110-2112)TCA>TTA	p.S704L	STAG2_uc004eua.2_Missense_Mutation_p.S704L|STAG2_uc004eub.2_Missense_Mutation_p.S704L|STAG2_uc004euc.2_Missense_Mutation_p.S704L|STAG2_uc004eud.2_Missense_Mutation_p.S704L|STAG2_uc004eue.2_Missense_Mutation_p.S704L	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	704					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CATGACCTTTCAAAGTGGGAT	0.289		NaN											0	0	0	0.049695	0	19	51		Valid		
F8	2157	broad.mit.edu	37	X	154124398	154124398	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chrX:154124398C>G	uc004fmt.2	-	22	6554	c.6383G>C	c.(6382-6384)GGG>GCG	p.G2128A	F8_uc010nvi.1_3'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2128	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCACTTCTTCCCATCAAGACT	0.413		NaN											0	0	0	0.048971	0	62	92				
CCNL2	81669	broad.mit.edu	37	1	1325721	1325721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:1325721C>A	uc001afi.2	-	8	927	c.895G>T	c.(895-897)GAA>TAA	p.E299*	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afg.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	299					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCTTTTTTCCACTTCACCC	0.552		NaN											1	0	1.59361e-14	0.027894	1.70787e-14	35	56				
PGD	5226	broad.mit.edu	37	1	10471526	10471526	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:10471526G>C	uc001arc.2	+	7	661	c.571G>C	c.(571-573)GAG>CAG	p.E191Q	PGD_uc001ard.2_Missense_Mutation_p.E111Q|PGD_uc010oak.1_Missense_Mutation_p.E169Q|PGD_uc010oal.1_Missense_Mutation_p.E178Q	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	191		Proton donor (By similarity).			pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CAACGGGATAGAGTATGGGGA	0.582		NaN											0	0	0	0.024245	0	13	45				
EIF4G3	8672	broad.mit.edu	37	1	21177865	21177865	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:21177865G>C	uc001bec.2	-	23	3746	c.3490C>G	c.(3490-3492)CAG>GAG	p.Q1164E	EIF4G3_uc010odi.1_Missense_Mutation_p.Q768E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q1163E|EIF4G3_uc009vpz.2_Missense_Mutation_p.Q884E|EIF4G3_uc001bed.2_Missense_Mutation_p.Q1164E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q1200E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q1170E	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1164					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTGAGACTGATTGTCTAGC	0.522		NaN											0	0	0	0.013114	0	39	84				
ASAP3	55616	broad.mit.edu	37	1	23768756	23768756	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:23768756G>C	uc001bha.2	-	7	718	c.594C>G	c.(592-594)CTC>CTG	p.L198L	ASAP3_uc010odz.1_Silent_p.L67L|ASAP3_uc010oea.1_Silent_p.L189L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	198					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CCCCGGCTTTGAGCAGATACT	0.567		NaN											0	0	0	0.021553	0	5	14				
ARID1A	8289	broad.mit.edu	37	1	27105793	27105793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27105793G>T	uc001bmv.1	+	20	5777	c.5404G>T	c.(5404-5406)GAG>TAG	p.E1802*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1585*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E648*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E130*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E44*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1802					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAGAATAGTGAGGAGAAGCT	0.438		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								1	0	2.23348e-06	0.028581	2.28993e-06	15	24		Valid		
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106492G>A	uc001bmv.1	+	20	6476	c.6103G>A	c.(6103-6105)GAG>AAG	p.E2035K	ARID1A_uc001bmu.1_Missense_Mutation_p.E1818K|ARID1A_uc001bmx.1_Missense_Mutation_p.E881K|ARID1A_uc009vsm.1_Missense_Mutation_p.E363K|ARID1A_uc009vsn.1_Missense_Mutation_p.E277K	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2035					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAAAGGAGGAGGAACAGGA	0.557		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	49	69		Valid		
ARID1A	8289	broad.mit.edu	37	1	27106953	27106953	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:27106953G>T	uc001bmv.1	+	20	6937	c.6564G>T	c.(6562-6564)CAG>CAT	p.Q2188H	ARID1A_uc001bmu.1_Missense_Mutation_p.Q1971H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q1034H|ARID1A_uc009vsm.1_Missense_Mutation_p.Q516H|ARID1A_uc009vsn.1_Missense_Mutation_p.Q430H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2188					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGCAGTGCAGAAGGGCAGTA	0.627		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								1	0	3.05275e-18	0.013114	3.2965e-18	41	106		Valid		
AK2	204	broad.mit.edu	37	1	33490112	33490112	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:33490112C>T	uc001bwp.1	-	2	192	c.150G>A	c.(148-150)CTG>CTA	p.L50L	uc001bwn.2_Intron|AK2_uc001bwo.1_Silent_p.L50L|AK2_uc010ohq.1_Silent_p.L50L|AK2_uc009vud.1_Intron|AK2_uc010ohr.1_Silent_p.L2L|AK2_uc001bwq.1_Silent_p.L2L	NM_001625	NP_001616	P54819	KAD2_HUMAN	adenylate kinase 2 isoform a	50	AMP (By similarity).				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCATGGCCCTCAGCATGTCCC	0.453		NaN											0	0	0	0.028581	0	16	29				
KIAA0754	643314	broad.mit.edu	37	1	39878981	39878981	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39878981C>T	uc009vvt.1	+	1	3806	c.3044C>T	c.(3043-3045)TCC>TTC	p.S1015F	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	879	Ala-rich.|1.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCACCTCCCCAGCTGCT	0.697		NaN											0	0	0	0.024245	0	12	17				
MACF1	23499	broad.mit.edu	37	1	39910468	39910468	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:39910468G>T	uc010oiu.1	+	45	15026	c.14895G>T	c.(14893-14895)CAG>CAT	p.Q4965H	MACF1_uc010ois.1_Missense_Mutation_p.Q4463H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTGGAGCAGAAGTGGCATG	0.438		NaN											1	0	2.48696e-23	0.015359	2.74823e-23	30	36				
LEPRE1	64175	broad.mit.edu	37	1	43232529	43232529	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:43232529G>C	uc001chv.2	-	1	227	c.114C>G	c.(112-114)CTC>CTG	p.L38L	LEPRE1_uc001chw.2_Silent_p.L38L|LEPRE1_uc001chx.3_Silent_p.L38L|LEPRE1_uc001chy.3_Silent_p.L38L|LEPRE1_uc001chz.2_Silent_p.L38L|C1orf50_uc001cia.3_5'Flank	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	38	TPR 1.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTCGGCGAAGAGCAGATCAG	0.711		NaN											0	0	0	0.027894	0	33	53				
CACHD1	57685	broad.mit.edu	37	1	65095063	65095063	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:65095063C>A	uc001dbo.1	+	5	495	c.390C>A	c.(388-390)AAC>AAA	p.N130K	CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	181	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						TGAAATCCAACCCTGGAATTA	0.453		NaN											1	0	6.38683e-12	0.008361	6.81902e-12	26	52				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094406	77094406	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:77094406G>A	uc001dhh.2	+	5	996	c.833G>A	c.(832-834)AGG>AAG	p.R278K	ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R177K	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	278	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						GGGGGTCATAGGTTTATCACT	0.378		NaN											0	0	0	0.00499	0	16	32				
TMEM56	148534	broad.mit.edu	37	1	95609471	95609471	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:95609471C>G	uc001drb.2	+	2	305	c.14C>G	c.(13-15)ACA>AGA	p.T5R	RWDD3_uc001drd.3_Missense_Mutation_p.T5R|TMEM56_uc001drc.2_Missense_Mutation_p.T5R	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	5						integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GAGATCAACACAAAACTGCTC	0.313		NaN											0	0	0	0.014323	0	17	16				
PHTF1	10745	broad.mit.edu	37	1	114247322	114247322	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:114247322A>C	uc009wgp.1	-	13	2221	c.1769T>G	c.(1768-1770)ATT>AGT	p.I590S	PHTF1_uc001edn.2_Missense_Mutation_p.I590S|PHTF1_uc001edm.2_Missense_Mutation_p.I347S	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	590						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATATTTTAATATTCTCCAC	0.353		NaN											0	0	0	0.008291	0	10	25				
CSDE1	7812	broad.mit.edu	37	1	115261332	115261332	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:115261332C>T	uc001efk.2	-	19	2717	c.2251G>A	c.(2251-2253)GAT>AAT	p.D751N	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Missense_Mutation_p.D797N|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D720N|CSDE1_uc001efm.2_Missense_Mutation_p.D766N|CSDE1_uc009wgv.2_Missense_Mutation_p.D751N|CSDE1_uc001efn.2_Missense_Mutation_p.D720N	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	751					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAACCGATCAGGTCGAGGA	0.502		NaN											0	0	0	0.016723	0	12	31				
PTGFRN	5738	broad.mit.edu	37	1	117529499	117529499	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:117529499C>T	uc001egv.1	+	9	2687	c.2550C>T	c.(2548-2550)ATC>ATT	p.I850I		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	850	Helical; (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTGTCTCATCGGGTACTGCA	0.607		NaN											0	0	0	0.01441	0	53	77				
CD5L	922	broad.mit.edu	37	1	157803159	157803159	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:157803159C>T	uc001frk.3	-	5	1005	c.862G>A	c.(862-864)GGG>AGG	p.G288R		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	288	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGACTTCCCACAGCCCAGT	0.587		NaN											0	0	0	0.013114	0	43	125				
MAEL	84944	broad.mit.edu	37	1	166973535	166973535	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:166973535C>T	uc001gdy.1	+	6	713	c.642C>T	c.(640-642)TAC>TAT	p.Y214Y	MAEL_uc001gdz.1_Silent_p.Y183Y|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	214					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						CACCTATCTACTGCAAGGTAA	0.343		NaN											0	0	0	0.00308	0	5	31				
FMO3	2328	broad.mit.edu	37	1	171085395	171085395	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:171085395G>A	uc001ghi.2	+	8	1342	c.1231G>A	c.(1231-1233)GAG>AAG	p.E411K	FMO3_uc001ghh.2_Missense_Mutation_p.E411K|FMO3_uc010pmb.1_Missense_Mutation_p.E391K|FMO3_uc010pmc.1_Missense_Mutation_p.E348K	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	411					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATATTAATGAGAAAATGGA	0.358		NaN											0	0	0	0.020292	0	11	23				
C1orf9	51430	broad.mit.edu	37	1	172558282	172558282	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:172558282C>G	uc001giq.3	+	18	2357	c.2041C>G	c.(2041-2043)CTG>GTG	p.L681V	C1orf9_uc010pmm.1_Missense_Mutation_p.L681V|C1orf9_uc009wwd.2_Missense_Mutation_p.L637V|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	681					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ATTGCAACCTCTGAGTGGAGA	0.408		NaN											0	0	0	0.007413	0	15	81				
SLC9A11	284525	broad.mit.edu	37	1	173517647	173517647	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:173517647C>G	uc001giz.2	-	12	1765	c.1342G>C	c.(1342-1344)GCC>CCC	p.A448P	SLC9A11_uc009wwe.2_Missense_Mutation_p.A6P|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	448					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TGCTGAGTGGCATTTTGCAAG	0.363		NaN											0	0	0	0.006122	0	14	26				
CEP350	9857	broad.mit.edu	37	1	179989148	179989148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:179989148C>T	uc001gnt.2	+	12	2622	c.2239C>T	c.(2239-2241)CAA>TAA	p.Q747*	CEP350_uc009wxl.2_Nonsense_Mutation_p.Q746*|CEP350_uc001gnu.2_Nonsense_Mutation_p.Q581*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	747						centrosome|nucleus|spindle				ovary(4)	4						TCACCATTCTCAACCACAGCC	0.383		NaN											0	0	0	0.01441	0	45	92				
CEP350	9857	broad.mit.edu	37	1	180063622	180063622	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:180063622G>A	uc001gnt.2	+	34	8765	c.8382G>A	c.(8380-8382)AAG>AAA	p.K2794K	CEP350_uc009wxl.2_Silent_p.K2793K|CEP350_uc001gnv.2_Silent_p.K929K|CEP350_uc001gnw.1_Silent_p.K551K|CEP350_uc001gnx.1_Silent_p.K551K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2794						centrosome|nucleus|spindle				ovary(4)	4						ATGACCAAAAGAAAGTAACAC	0.388		NaN											0	0	0	0.014758	0	3	8				
PRG4	10216	broad.mit.edu	37	1	186276169	186276169	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:186276169C>A	uc001gru.3	+	7	1369	c.1318C>A	c.(1318-1320)CCC>ACC	p.P440T	PRG4_uc001grt.3_Missense_Mutation_p.P399T|PRG4_uc009wyl.2_Missense_Mutation_p.P347T|PRG4_uc009wym.2_Missense_Mutation_p.P306T|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	440	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|12.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCACCACCCCCAAGAAGCC	0.652		NaN											1	0	0.000602214	0.014758	0.000608644	5	99				
CDC73	79577	broad.mit.edu	37	1	193121533	193121533	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:193121533A>G	uc001gtb.2	+	10	1174	c.931A>G	c.(931-933)ACT>GCT	p.T311A		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	311					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						CAAAATTGACACTATGGGAAC	0.333		NaN							Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				0	0	0	0.028581	0	12	11				
FAM71A	149647	broad.mit.edu	37	1	212798352	212798352	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:212798352A>T	uc001hjk.2	+	1	537	c.133A>T	c.(133-135)ATA>TTA	p.I45L	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	45										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTATGCACCGATATTTGAGAG	0.512		NaN											0	0	0	0.01441	0	44	114				
C1orf69	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:228362441C>A	uc001hsl.3	+	2	479	c.390C>A	c.(388-390)AGC>AGA	p.S130R	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	130					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AGTGTGACAGCTCGGTGCAGG	0.662		NaN											1	0	0.00448238	0.004482	0.00451417	6	36				
OBSCN	84033	broad.mit.edu	37	1	228400372	228400372	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:228400372C>G	uc009xez.1	+	2	932	c.888C>G	c.(886-888)CTC>CTG	p.L296L	OBSCN_uc001hsn.2_Silent_p.L296L|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	296	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACTTCGTGCTCAAGATCCTCT	0.657		NaN											0	0	0	0.01441	0	42	110				
GALNT2	2590	broad.mit.edu	37	1	230398367	230398367	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:230398367C>G	uc010pwa.1	+	12	1257	c.1185C>G	c.(1183-1185)TTC>TTG	p.F395L	GALNT2_uc010pvy.1_Missense_Mutation_p.F357L|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Missense_Mutation_p.F7L	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	395	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACAAAAATTTCTATTATGCAG	0.448		NaN											0	0	0	0.01441	0	65	146				
OR2G3	81469	broad.mit.edu	37	1	247768909	247768909	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:247768909T>A	uc010pyz.1	+	1	22	c.22T>A	c.(22-24)TCC>ACC	p.S8T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAATGAGAGTTCCCTAATGGA	0.468		NaN											0	0	0	0.010818	0	23	37				
C10orf140	387640	broad.mit.edu	37	10	21804750	21804750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:21804750C>A	uc009xkd.2	-	4	4255	c.2002G>T	c.(2002-2004)GAG>TAG	p.E668*	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	587						nucleus	nucleotide binding			ovary(1)	1						CAGGGATTCTCGGCTTTAGTT	0.433		NaN											1	0	9.16793e-09	0.00499	9.53733e-09	14	18				
BLOC1S2	282991	broad.mit.edu	37	10	102045870	102045870	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:102045870C>T	uc001kqw.1	-	2	179	c.156G>A	c.(154-156)CTG>CTA	p.L52L	BLOC1S2_uc001kqv.1_Silent_p.L9L	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	52					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GTTCCCCAGTCAGGTAAGTGG	0.597		NaN											0	0	0	0.01441	0	70	167				
INPP5A	3632	broad.mit.edu	37	10	134591246	134591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr10:134591246G>A	uc001llp.2	+	13	1297	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	INPP5A_uc001llo.1_Missense_Mutation_p.R350H|INPP5A_uc001llq.2_Missense_Mutation_p.R245H	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	350					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGTGACCGCATCCTCATG	0.652		NaN											0	0	0	0.007835	0	36	56				
CDHR5	53841	broad.mit.edu	37	11	621088	621088	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:621088G>A	uc001lqj.2	-	7	886	c.781C>T	c.(781-783)CAC>TAC	p.H261Y	CDHR5_uc001lqk.2_Missense_Mutation_p.H261Y|CDHR5_uc009ycc.2_Missense_Mutation_p.H95Y|CDHR5_uc009ycd.2_Missense_Mutation_p.H261Y|CDHR5_uc001lql.2_Missense_Mutation_p.H261Y|CDHR5_uc001lqm.2_Missense_Mutation_p.H95Y|CDHR5_uc009yce.1_Missense_Mutation_p.H230Y	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	261	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ACCAGTATGTGCCCCGTGGGG	0.672		NaN											0	0	0	0.013726	0	28	49				
LRDD	55367	broad.mit.edu	37	11	801284	801284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:801284G>T	uc001lro.1	-	9	1706	c.1564C>A	c.(1564-1566)CAG>AAG	p.Q522K	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.Q522K|LRDD_uc001lrl.1_Missense_Mutation_p.Q376K|LRDD_uc001lrm.1_Missense_Mutation_p.Q209K|LRDD_uc001lrn.1_Missense_Mutation_p.Q376K|LRDD_uc001lrp.1_Missense_Mutation_p.Q160K	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	522	ZU5 2.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCGCTCTGTGACAGGCAC	0.677		NaN											1	0	7.63505e-26	0.012213	8.47013e-26	27	51				
NUP98	4928	broad.mit.edu	37	11	3720533	3720533	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:3720533C>A	uc001lyh.2	-	25	4079	c.3788G>T	c.(3787-3789)TGG>TTG	p.W1263L	NUP98_uc001lyi.2_Missense_Mutation_p.W1263L|NUP98_uc001lyg.2_Missense_Mutation_p.W228L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1280					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGGTGGCCccatagggcttc	0.299		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								1	0	5.73435e-26	0.01441	6.38649e-26	40	40				
ZNF214	7761	broad.mit.edu	37	11	7022651	7022651	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:7022651T>G	uc001mfa.2	-	3	566	c.263A>C	c.(262-264)CAA>CCA	p.Q88P	ZNF214_uc010ray.1_Missense_Mutation_p.Q88P|ZNF214_uc009yfh.1_Missense_Mutation_p.Q88P	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATCTGTCCCTTGAACAGTTTC	0.438		NaN											0	0	0	0.01441	0	122	166				
MICAL2	9645	broad.mit.edu	37	11	12247845	12247845	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:12247845G>A	uc001mjz.2	+	14	2104	c.1816G>A	c.(1816-1818)GAC>AAC	p.D606N	MICAL2_uc010rch.1_Missense_Mutation_p.D606N|MICAL2_uc001mka.2_Missense_Mutation_p.D606N|MICAL2_uc010rci.1_Missense_Mutation_p.D606N|MICAL2_uc001mkb.2_Missense_Mutation_p.D606N|MICAL2_uc001mkc.2_Missense_Mutation_p.D606N|MICAL2_uc001mkd.2_Missense_Mutation_p.D435N|MICAL2_uc010rcj.1_Missense_Mutation_p.D8N	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	606	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CCAGGAGCCTGACAAGCTCAG	0.572		NaN											0	0	0	0.010818	0	30	57				
KCNJ11	3767	broad.mit.edu	37	11	17409117	17409117	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:17409117G>T	uc001mna.2	-	1	1090	c.522C>A	c.(520-522)GCC>GCA	p.A174A	KCNJ11_uc001mnb.3_Silent_p.A87A	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	174						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCCTGCGGTGGGCTTGGGCAG	0.597		NaN									OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.62473e-10	0.012319	3.82685e-10	17	21				
ANO3	63982	broad.mit.edu	37	11	26655840	26655840	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:26655840T>C	uc001mqt.3	+	19	2108	c.1963T>C	c.(1963-1965)TAT>CAT	p.Y655H	ANO3_uc010rdr.1_Missense_Mutation_p.Y639H|ANO3_uc010rds.1_Missense_Mutation_p.Y494H|ANO3_uc010rdt.1_Missense_Mutation_p.Y509H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	655	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCCATCTTCTATATCGCTTT	0.368		NaN											0	0	0	0.008291	0	10	11				
RAG1	5896	broad.mit.edu	37	11	36595001	36595001	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:36595001G>A	uc001mwu.3	+	2	271	c.147G>A	c.(145-147)AAG>AAA	p.K49K	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	49	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGGAAAAGAAGGATTCCT	0.438		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.008291	0	11	23				
OR4C46	119749	broad.mit.edu	37	11	51515382	51515382	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:51515382T>G	uc010ric.1	+	1	101	c.101T>G	c.(100-102)ATC>AGC	p.I34S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTCATCTATATCATCACTGTG	0.433		NaN											0	0	0	0.01441	0	51	86				
OR5D18	219438	broad.mit.edu	37	11	55587569	55587569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:55587569C>A	uc010rin.1	+	1	464	c.464C>A	c.(463-465)TCA>TAA	p.S155*		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TGGGGAGTCTCATGTTCCTTG	0.478		NaN											1	0	3.50607e-19	0.01441	3.80047e-19	42	70				
FAM111B	374393	broad.mit.edu	37	11	58893255	58893255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:58893255G>A	uc001nnl.2	+	4	1928	c.1685G>A	c.(1684-1686)TGG>TAG	p.W562*	FAM111B_uc001nnm.2_Nonsense_Mutation_p.W532*|FAM111B_uc010rko.1_Nonsense_Mutation_p.W532*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	562							catalytic activity	p.W562*(1)		ovary(2)	2						CCAGGACTATGGCGACAGATT	0.373		NaN											0	0	0	0.020292	0	14	37				
CD6	923	broad.mit.edu	37	11	60777201	60777201	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:60777201G>A	uc001nqq.2	+	5	1162	c.939G>A	c.(937-939)GAG>GAA	p.E313E	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Silent_p.E313E|CD6_uc001nqr.2_Silent_p.E313E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.E313E	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	313	SRCR 3.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						CTGCGGTTGAGAGGCCCAAGG	0.592		NaN											0	0	0	0.013726	0	29	54				
DPP3	10072	broad.mit.edu	37	11	66262701	66262701	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66262701G>A	uc001oig.1	+	13	1476	c.1414G>A	c.(1414-1416)GAC>AAC	p.D472N	DPP3_uc001oif.1_Missense_Mutation_p.D472N|DPP3_uc010rpe.1_Missense_Mutation_p.D461N|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	472					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						ATTCAACTTTGACCAGGAAAC	0.627		NaN											0	0	0	0.01441	0	52	80				
BBS1	582	broad.mit.edu	37	11	66288833	66288833	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66288833C>G	uc001oij.1	+	9	828	c.816C>G	c.(814-816)ATC>ATG	p.I272M	BBS1_uc001oii.1_Missense_Mutation_p.I309M|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.I175M|BBS1_uc001oik.1_Missense_Mutation_p.I196M|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	272					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						ATGGAAACATCTATATTCTGA	0.552		NaN							Bardet-Biedl_syndrome				0	0	0	0.007413	0	16	25				
PITPNM1	9600	broad.mit.edu	37	11	67262389	67262389	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:67262389C>A	uc001olx.2	-	17	2859	c.2670G>T	c.(2668-2670)GAG>GAT	p.E890D	PITPNM1_uc001olw.2_Missense_Mutation_p.E172D|PITPNM1_uc001oly.2_Missense_Mutation_p.E890D|PITPNM1_uc001olz.2_Missense_Mutation_p.E889D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	890					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						TGGACGGCTCCTCGCATTCCG	0.692		NaN											1	0	1.21526e-53	0.01441	1.37504e-53	84	130				
LRP5	4041	broad.mit.edu	37	11	68174203	68174203	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:68174203C>T	uc001ont.2	+	9	2088	c.2013C>T	c.(2011-2013)CTC>CTT	p.L671L	LRP5_uc009ysg.2_Silent_p.L81L	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	671	Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCATCCCGCTCACGGGCGTCA	0.587		NaN											0	0	0	0.008291	0	10	29				
ANO1	55107	broad.mit.edu	37	11	70028637	70028637	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:70028637C>T	uc001opj.2	+	24	2738	c.2433C>T	c.(2431-2433)TTC>TTT	p.F811F	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.F520F|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	811	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CGTCTGACTTCATCCCGCGCC	0.612		NaN											0	0	0	0.00632	0	22	42				
RSF1	51773	broad.mit.edu	37	11	77411897	77411897	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:77411897C>T	uc001oyn.2	-	6	2497	c.2377G>A	c.(2377-2379)GAT>AAT	p.D793N	RSF1_uc001oym.2_Missense_Mutation_p.D541N	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	793					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCTTTCTGATCTCTGATCTCA	0.383		NaN											0	0	0	0.008871	0	18	27				
JRKL	8690	broad.mit.edu	37	11	96124087	96124087	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:96124087G>C	uc009ywu.2	+	2	526	c.274G>C	c.(274-276)GCA>CCA	p.A92P	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.A92P	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	92	HTH CENPB-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCAGCAAAGAGCAAAAGGGAA	0.443		NaN											0	0	0	0.01441	0	46	17				
IL10RA	3587	broad.mit.edu	37	11	117866303	117866303	+	Splice_Site	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:117866303G>T	uc001prv.2	+	6	766	c.689_splice	c.e6-1	p.Y230_splice	IL10RA_uc010rxl.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxm.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxn.1_Splice_Site_p.Y81_splice|IL10RA_uc001prw.2_Splice_Site_p.Y81_splice	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor							integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGGGCCTGCAGATTTCACCGT	0.577		NaN											1	0	9.50027e-55	0.01441	1.07923e-54	94	24				
MLL	4297	broad.mit.edu	37	11	118355688	118355688	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:118355688G>C	uc001pta.2	+	10	4353	c.4330G>C	c.(4330-4332)GAG>CAG	p.E1444Q	MLL_uc001ptb.2_Missense_Mutation_p.E1444Q|MLL_uc001pte.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1444	PHD-type 1.	Breakpoint for translocation to form MLL- LPP.|Breakpoint for translocation to form MLL- GAS7 oncogene.			apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGGGCATGTAGAGGTAAGGCA	0.423		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.010729	0	12	21		Valid		
OR8A1	390275	broad.mit.edu	37	11	124440079	124440079	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:124440079G>A	uc010san.1	+	1	115	c.115G>A	c.(115-117)GAC>AAC	p.D39N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	39	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAAGAGAGCAGACCTCCAGCT	0.527		NaN											0	0	0	0.006122	0	15	28				
ARHGAP32	9743	broad.mit.edu	37	11	128844063	128844063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:128844063G>C	uc009zcp.2	-	20	2987	c.2987C>G	c.(2986-2988)TCA>TGA	p.S996*	ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.S956*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.S647*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	996					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CTGACTGCTTGAGACAGACTG	0.473		NaN											0	0	0	0.010504	0	21	43				
SPATA19	219938	broad.mit.edu	37	11	133715054	133715054	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:133715054G>C	uc001qgv.1	-	2	161	c.110C>G	c.(109-111)TCT>TGT	p.S37C		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	37					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATGTAGTACAGACACAGCCTC	0.458		NaN											0	0	0	0.011902	0	34	60				
A2M	2	broad.mit.edu	37	12	9248286	9248286	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:9248286A>G	uc001qvk.1	-	16	1975	c.1862T>C	c.(1861-1863)CTG>CCG	p.L621P	A2M_uc009zgk.1_Missense_Mutation_p.L471P	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	621					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCTGGTAGCAGGTTGTAAAC	0.308		NaN											0	0	0	0.007413	0	12	58				
PTPRO	5800	broad.mit.edu	37	12	15677896	15677896	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:15677896G>C	uc001rcv.1	+	11	2214	c.2040G>C	c.(2038-2040)AAG>AAC	p.K680N	PTPRO_uc001rcw.1_Missense_Mutation_p.K680N	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	680	Fibronectin type-III 7.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AAATTAAAAAGAGTGTATGTT	0.289		NaN											0	0	0	0.010729	0	10	31				
PDE3A	5139	broad.mit.edu	37	12	20766459	20766459	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:20766459C>G	uc001reh.1	+	3	1116	c.1094C>G	c.(1093-1095)TCT>TGT	p.S365C		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	365				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCAGACCCTTCTCTTCCACCA	0.557		NaN											0	0	0	0.01441	0	60	45				
ABCC9	10060	broad.mit.edu	37	12	22059097	22059097	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:22059097A>G	uc001rfi.1	-	10	1601	c.1581T>C	c.(1579-1581)TCT>TCC	p.S527S	ABCC9_uc001rfh.2_Silent_p.S527S|ABCC9_uc001rfj.1_Silent_p.S527S	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	527	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTTGAGACTAGATAGTTCTT	0.368		NaN											0	0	0	0.027356	0	18	45				
NCKAP5L	57701	broad.mit.edu	37	12	50189001	50189001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:50189001G>C	uc009zlk.2	-	8	2844	c.2642C>G	c.(2641-2643)TCA>TGA	p.S881*	NCKAP5L_uc001rvc.3_Nonsense_Mutation_p.S85*|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S474*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	877										central_nervous_system(1)	1						CTCGATGGCTGAGTGTGGGGC	0.662		NaN											0	0	0	0.01441	0	94	72				
BIN2	51411	broad.mit.edu	37	12	51707619	51707619	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:51707619G>A	uc001ryg.2	-	2	202	c.150C>T	c.(148-150)TTC>TTT	p.F50F	BIN2_uc009zlz.2_Silent_p.F50F|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Silent_p.F24F	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	50	BAR.					cytoplasm	protein binding			ovary(1)	1						GTTGTTGGTAGAAGTTGCTAG	0.468		NaN											0	0	0	0.027894	0	34	43				
KRT79	338785	broad.mit.edu	37	12	53215788	53215788	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:53215788C>G	uc001sbb.2	-	9	1509	c.1476G>C	c.(1474-1476)GGG>GGC	p.G492G	KRT79_uc001sba.2_Silent_p.G263G	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	492	Tail.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						CCCCCCCACTCCCACCCAGGG	0.612		NaN											0	0	0	0.009718	0	39	55				
GLI1	2735	broad.mit.edu	37	12	57861869	57861869	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:57861869C>T	uc001snx.2	+	10	1248	c.1170C>T	c.(1168-1170)GAC>GAT	p.D390D	GLI1_uc009zpq.2_Silent_p.D262D	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	390					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ATGGTCCTGACGCCCATGTGA	0.572		NaN											0	0	0	0.027356	0	23	67				
LRRIQ1	84125	broad.mit.edu	37	12	85450509	85450509	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:85450509A>G	uc001tac.2	+	8	2049	c.1938A>G	c.(1936-1938)CCA>CCG	p.P646P	LRRIQ1_uc001tab.1_Silent_p.P646P|LRRIQ1_uc001taa.1_Silent_p.P621P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	646										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGGAGAACCCAAAAGACAATG	0.308		NaN											0	0	0	0.021553	0	6	13				
C12orf42	374470	broad.mit.edu	37	12	103699968	103699968	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:103699968C>T	uc001tjt.2	-	5	503	c.415G>A	c.(415-417)GAG>AAG	p.E139K	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E139K|C12orf42_uc001tju.2_Missense_Mutation_p.E44K	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	139										ovary(1)|central_nervous_system(1)	2						AATGGGGCCTCATCAGTTTCA	0.463		NaN											0	0	0	0.010504	0	17	14				
TBX5	6910	broad.mit.edu	37	12	114832653	114832653	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:114832653C>T	uc001tvo.2	-	6	1051	c.556G>A	c.(556-558)GTG>ATG	p.V186M	TBX5_uc001tvp.2_Missense_Mutation_p.V186M|TBX5_uc001tvq.2_Missense_Mutation_p.V136M|TBX5_uc010syv.1_Missense_Mutation_p.V186M	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	186	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCGCTTTCACGATGTGTAAT	0.363		NaN											0	0	0	0.01441	0	109	101				
DNAH10	196385	broad.mit.edu	37	12	124345628	124345628	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:124345628C>T	uc001uft.3	+	38	6490	c.6465C>T	c.(6463-6465)ATC>ATT	p.I2155I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2155	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTACGGCATCCTGGACCCAA	0.488		NaN											0	0	0	0.015359	0	31	36				
PIWIL1	9271	broad.mit.edu	37	12	130834457	130834457	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:130834457G>A	uc001uik.2	+	9	1079	c.989G>A	c.(988-990)AGC>AAC	p.S330N	PIWIL1_uc001uij.1_Missense_Mutation_p.S330N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	330	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AATCCCAAGAGCACCTTTAAG	0.408		NaN											0	0	0	0.00499	0	14	46				
FLT3	2322	broad.mit.edu	37	13	28597565	28597565	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:28597565C>G	uc001urw.2	-	19	2422	c.2340G>C	c.(2338-2340)TTG>TTC	p.L780F	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L780F	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	780	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCACATTCAAGTCCTCCT	0.353		NaN	Mis|O		AML|ALL								0	0	0	0.00308	0	7	25				
FRY	10129	broad.mit.edu	37	13	32783164	32783164	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:32783164C>G	uc001utx.2	+	32	4689	c.4193C>G	c.(4192-4194)TCT>TGT	p.S1398C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGACTGCTTCTCACGGGCTG	0.592		NaN											0	0	0	0.027894	0	38	91				
ALG5	29880	broad.mit.edu	37	13	37563687	37563687	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:37563687A>G	uc001uvy.2	-	5	448	c.381T>C	c.(379-381)TAT>TAC	p.Y127Y	ALG5_uc010teq.1_Silent_p.Y97Y|ALG5_uc010ter.1_RNA	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	127	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGTCACTTCCATATTTCTGGC	0.284		NaN											0	0	0	0.016522	0	19	34				
TSC22D1	8848	broad.mit.edu	37	13	45147390	45147390	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:45147390C>T	uc001uzn.3	-	1	3312	c.2821G>A	c.(2821-2823)GGG>AGG	p.G941R	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	941					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCTACTCCCATCTGAAACT	0.547		NaN											0	0	0	0.010818	0	30	16				
DACH1	1602	broad.mit.edu	37	13	72440381	72440381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:72440381G>C	uc010thn.1	-	2	944	c.521C>G	c.(520-522)TCA>TGA	p.S174*	DACH1_uc010tho.1_Nonsense_Mutation_p.S174*|DACH1_uc010thp.1_Nonsense_Mutation_p.S174*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	174					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGACGGGGTTGAGTACACGGG	0.398		NaN											0	0	0	0.021553	0	6	14				
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:73636090C>T	uc001vje.2	+	2	677	c.353C>T	c.(352-354)TCA>TTA	p.S118L	KLF5_uc001vjd.2_Missense_Mutation_p.S27L	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	118					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GACAGTGCCTCAGTCGTAGAC	0.443		NaN											0	0	0	0.027894	0	33	110		Valid		
RBM26	64062	broad.mit.edu	37	13	79942951	79942951	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:79942951C>A	uc001vkz.2	-	6	823	c.809G>T	c.(808-810)AGT>ATT	p.S270I	RBM26_uc001vky.2_Missense_Mutation_p.S270I|RBM26_uc001vla.2_Missense_Mutation_p.S270I|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	270					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCAGACCAACTTTCGGTAGT	0.433		NaN											1	0	9.14704e-12	0.00874	9.72944e-12	37	67				
KDELC1	79070	broad.mit.edu	37	13	103445990	103445990	+	Silent	SNP	C	C	T	rs144061173		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr13:103445990C>T	uc001vpq.3	-	3	939	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	KDELC1_uc001vpr.3_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	185						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCTCTGCCTCTGTCCAAATC	0.383		NaN											0	0	0	0.023175	0	34	84				
POTEG	404785	broad.mit.edu	37	14	19553758	19553758	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:19553758G>C	uc001vuz.1	+	1	394	c.342G>C	c.(340-342)AAG>AAC	p.K114N	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	114										ovary(1)	1						GGAGCGGCAAGAGCAAAGTGG	0.597		NaN											0	0	0	0.01441	0	61	680				
SYNE2	23224	broad.mit.edu	37	14	64690078	64690078	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:64690078A>G	uc001xgm.2	+	112	20523	c.20293A>G	c.(20293-20295)ATG>GTG	p.M6765V	SYNE2_uc001xgl.2_Missense_Mutation_p.M6788V|SYNE2_uc010apy.2_Missense_Mutation_p.M3150V|SYNE2_uc001xgn.2_Missense_Mutation_p.M1727V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M735V|SYNE2_uc001xgq.2_Missense_Mutation_p.M1144V|SYNE2_uc001xgr.2_Missense_Mutation_p.M548V|SYNE2_uc010tsi.1_Missense_Mutation_p.M422V|SYNE2_uc001xgs.2_Missense_Mutation_p.M436V|SYNE2_uc001xgt.2_Missense_Mutation_p.M310V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6765	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAGATTTAATGGCCTTGCA	0.428		NaN											0	0	0	0.00499	0	15	28				
PAPOLA	10914	broad.mit.edu	37	14	97022284	97022284	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:97022284G>A	uc001yfq.2	+	18	1975	c.1765G>A	c.(1765-1767)GGT>AGT	p.G589S	PAPOLA_uc001yfr.2_Missense_Mutation_p.G588S|PAPOLA_uc010twv.1_Missense_Mutation_p.G589S|PAPOLA_uc010avp.2_Missense_Mutation_p.G339S	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	589	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAGCTCAGGGGGTAAGGAGAT	0.403		NaN											0	0	0	0.015359	0	32	29				
DYNC1H1	1778	broad.mit.edu	37	14	102461424	102461424	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102461424G>A	uc001yks.2	+	14	3599	c.3435G>A	c.(3433-3435)CAG>CAA	p.Q1145Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1145	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCCATTCCCAGATCTCAAAGG	0.463		NaN											0	0	0	0.012319	0	21	35				
DYNC1H1	1778	broad.mit.edu	37	14	102476256	102476256	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr14:102476256G>C	uc001yks.2	+	30	6218	c.6054G>C	c.(6052-6054)ATG>ATC	p.M2018I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2018	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCATCACCATGAACCCTGGCT	0.547		NaN											0	0	0	0.017118	0	31	50				
RORA	6095	broad.mit.edu	37	15	60919554	60919554	+	Missense_Mutation	SNP	C	C	T	rs139672315	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:60919554C>T	uc002agv.2	-	1	176	c.20G>A	c.(19-21)GGA>GAA	p.G7E	RORA_uc002agw.2_Missense_Mutation_p.G7E|RORA_uc002agx.2_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	7	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GTCACTGTCTCCTGGGGCCCC	0.547		NaN											0	0	0	0.01441	0	44	87				
SV2B	9899	broad.mit.edu	37	15	91769539	91769539	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr15:91769539A>G	uc002bqv.2	+	1	437	c.46A>G	c.(46-48)AGT>GGT	p.S16G	SV2B_uc002bqt.2_Missense_Mutation_p.S16G|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	16	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTATGCTCCCAGTGATGGCTA	0.522		NaN											0	0	0	0.014323	0	20	30				
MLST8	64223	broad.mit.edu	37	16	2256159	2256159	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:2256159C>G	uc002coz.2	+	2	192	c.73C>G	c.(73-75)CGC>GGC	p.R25G	MLST8_uc002coy.2_Missense_Mutation_p.R25G|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R25G|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R25G|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R25G|MLST8_uc010uvy.1_Missense_Mutation_p.R25G|MLST8_uc002cpg.2_Missense_Mutation_p.R44G|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R25G	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	25	WD 1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						CCACACCGTGCGCTTCTGGCA	0.706		NaN											0	0	0	0.01441	0	46	64				
PRSS8	5652	broad.mit.edu	37	16	31144121	31144121	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31144121G>A	uc002ebc.3	-	4	752	c.420C>T	c.(418-420)CTC>CTT	p.L140L	PRSS8_uc010vfe.1_Silent_p.L86L	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	140	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						TGGGTCTGCTGAGTTGGAGGA	0.642		NaN											0	0	0	0.01441	0	279	88				
FUS	2521	broad.mit.edu	37	16	31202302	31202302	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:31202302A>G	uc002ebf.2	+	14	1495	c.1412A>G	c.(1411-1413)GAT>GGT	p.D471G	FUS_uc002ebh.2_Missense_Mutation_p.D470G|FUS_uc002ebg.2_Missense_Mutation_p.D266G|FUS_uc002ebi.2_Missense_Mutation_p.D472G|FUS_uc002ebj.2_Missense_Mutation_p.D267G	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	471	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TACGGGGATGATCGTCGTGGT	0.592		NaN	T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								0	0	0	0.01441	0	53	101				
NUP93	9688	broad.mit.edu	37	16	56870618	56870618	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr16:56870618G>A	uc002eka.2	+	17	2009	c.1888G>A	c.(1888-1890)GAC>AAC	p.D630N	NUP93_uc002ekb.2_Missense_Mutation_p.D507N|NUP93_uc010vhi.1_Missense_Mutation_p.D507N	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	630					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						AAAGCTGTATGACCTTGCCAA	0.428		NaN											0	0	0	0.028581	0	14	20				
SMYD4	114826	broad.mit.edu	37	17	1686727	1686727	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:1686727C>G	uc002ftm.3	-	9	2232	c.2064G>C	c.(2062-2064)GAG>GAC	p.E688D	SMYD4_uc002ftn.1_Missense_Mutation_p.E543D	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	688							zinc ion binding			skin(3)|kidney(2)	5						ACAGGAAGCTCTCGGCGTCAC	0.612		NaN											0	0	0	0.00499	0	16	50				
KIF1C	10749	broad.mit.edu	37	17	4910784	4910784	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:4910784G>A	uc002gan.1	+	16	1764	c.1438G>A	c.(1438-1440)GGG>AGG	p.G480R		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	480					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GGCTGAGATGGGGGTGGCCGT	0.607		NaN											0	0	0	0.01441	0	65	311				
RABEP1	9135	broad.mit.edu	37	17	5257704	5257704	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:5257704A>G	uc002gbm.3	+	8	1238	c.1014A>G	c.(1012-1014)GCA>GCG	p.A338A	RABEP1_uc010clc.1_Silent_p.A331A|RABEP1_uc010cld.1_Silent_p.A295A|RABEP1_uc010vsw.1_Silent_p.A295A|RABEP1_uc002gbl.3_Silent_p.A338A	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	338	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ACAAAAAAGCAGATGTTGAGG	0.323		NaN											0	0	0	0.006214	0	8	30				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	G	rs11540652		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7577538C>G	uc002gim.2	-	7	937	c.743G>C	c.(742-744)CGG>CCG	p.R248P	TP53_uc002gig.1_Missense_Mutation_p.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	124	21		Valid		
GUCY2D	3000	broad.mit.edu	37	17	7906989	7906989	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:7906989G>A	uc002gjt.2	+	2	698	c.624G>A	c.(622-624)CGG>CGA	p.R208R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	208	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCAGGGCCCGGGGCCTGCCTG	0.711		NaN											0	0	0	0.010729	0	10	52				
MYH4	4622	broad.mit.edu	37	17	10364372	10364372	+	Splice_Site	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10364372C>G	uc002gmn.2	-	12	1120	c.1009_splice	c.e12-1	p.S337_splice	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CCACAGCACTCTGTCAAAAGA	0.463		NaN											0	0	0	0.009535	0	22	103				
MYH1	4619	broad.mit.edu	37	17	10409366	10409366	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:10409366A>G	uc002gmo.2	-	18	2113	c.2019T>C	c.(2017-2019)TTT>TTC	p.F673F	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	673	Myosin head-like.|Actin-binding (By similarity).					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TGCACCGCACAAAGTGGGGGT	0.423		NaN											0	0	0	0.01441	0	35	166				
KCNJ12	3768	broad.mit.edu	37	17	21319580	21319580	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:21319580C>G	uc002gyv.1	+	3	1631	c.926C>G	c.(925-927)ACC>AGC	p.T309S		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	309	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	ACAGCCATGACCACCCAGGCC	0.607		NaN								Prostate(3;0.18)			0	0	0	0.027356	0	22	268				
HNF1B	6928	broad.mit.edu	37	17	36070615	36070615	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:36070615G>A	uc002hok.3	-	5	1323	c.1102C>T	c.(1102-1104)CAC>TAC	p.H368Y	HNF1B_uc010wdi.1_Missense_Mutation_p.H342Y	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	368					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGCCATGGTGACTGATTGTT	0.537		NaN							Hereditary_Prostate_Cancer				0	0	0	0.016522	0	21	46				
MED1	5469	broad.mit.edu	37	17	37563898	37563898	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37563898G>C	uc002hrv.3	-	17	4788	c.4576C>G	c.(4576-4578)CAT>GAT	p.H1526D	MED1_uc010wee.1_Missense_Mutation_p.H1354D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1526	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTGATGCTATGAGATTTTTTC	0.318		NaN								HNSCC(31;0.082)			0	0	0	0.016522	0	21	83				
C17orf37	84299	broad.mit.edu	37	17	37885818	37885818	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:37885818A>G	uc002hsq.2	-	4	345	c.305T>C	c.(304-306)CTA>CCA	p.L102P		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	102					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATCTTTTCTAGGGTTTCTCC	0.542		NaN											0	0	0	0.009718	0	40	190				
PLEKHH3	79990	broad.mit.edu	37	17	40823016	40823016	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:40823016C>G	uc002iau.2	-	9	1884	c.1417G>C	c.(1417-1419)GAG>CAG	p.E473Q	PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_Intron|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Intron	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	473	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ATTTACTTCTCAAACCTGGTG	0.637		NaN											0	0	0	0.01441	0	69	252				
DCAF7	10238	broad.mit.edu	37	17	61628110	61628110	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:61628110G>C	uc002jbc.2	+	1	289	c.72G>C	c.(70-72)TGG>TGC	p.W24C	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.W24C	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	24					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						CGATGAACTGGAGTGTGCGGC	0.642		NaN											0	0	0	0.027356	0	28	97				
ABCA8	10351	broad.mit.edu	37	17	66913593	66913593	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:66913593C>T	uc002jhp.2	-	15	2107	c.1928_splice	c.e15-1	p.D643_splice	ABCA8_uc002jhq.2_Splice_Site_p.D683_splice|ABCA8_uc010wqq.1_Splice_Site_p.D683_splice|ABCA8_uc010wqr.1_Splice_Site_p.D622_splice|ABCA8_uc002jhr.2_Splice_Site_p.D683_splice	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACTTTCCTGTCTGAAAAAGAA	0.373		NaN											0	0	0	0.007413	0	19	66				
PYCR1	5831	broad.mit.edu	37	17	79892301	79892301	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:79892301G>A	uc002kcr.1	-	6	976	c.698C>T	c.(697-699)TCT>TTT	p.S233F	PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.S233F|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.S260F|PYCR1_uc002kct.1_Missense_Mutation_p.S233F|PYCR1_uc002kcu.1_Missense_Mutation_p.S202F|PYCR1_uc010wve.1_Missense_Mutation_p.S154F	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	233					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CCCACCAGGAGAGCTGACGTT	0.637		NaN											0	0	0	0.014758	0	5	40				
DUS1L	64118	broad.mit.edu	37	17	80017896	80017896	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:80017896C>T	uc002kdq.2	-	10	1515	c.1096G>A	c.(1096-1098)GAG>AAG	p.E366K	DUS1L_uc002kdp.2_Missense_Mutation_p.E235K|DUS1L_uc002kdr.2_Missense_Mutation_p.E366K|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	366					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GACAGGACCTCCGTGCCACCC	0.652		NaN											0	0	0	0.021523	0	23	102				
USP14	9097	broad.mit.edu	37	18	179002	179002	+	Missense_Mutation	SNP	G	G	A	rs141269921	by1000genomes	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:179002G>A	uc002kkf.1	+	4	481	c.265G>A	c.(265-267)GTA>ATA	p.V89I	USP14_uc002kkg.1_Intron|USP14_uc010wyr.1_Missense_Mutation_p.V78I	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	89					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AACTGTCTTCGTAGAAGACAT	0.373		NaN											0	0	0	0.010818	0	25	22				
L3MBTL4	91133	broad.mit.edu	37	18	6301906	6301906	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:6301906A>C	uc002kmz.3	-	4	283	c.123T>G	c.(121-123)AGT>AGG	p.S41R	L3MBTL4_uc010dkt.2_Missense_Mutation_p.S41R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	41					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AATTACCGTGACTCAAAGGGG	0.338		NaN											0	0	0	0.012213	0	25	118				
ANKRD12	23253	broad.mit.edu	37	18	9281059	9281059	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:9281059G>A	uc002knv.2	+	13	6381	c.6124G>A	c.(6124-6126)GAA>AAA	p.E2042K	ANKRD12_uc002knw.2_Missense_Mutation_p.E2019K|ANKRD12_uc002knx.2_Missense_Mutation_p.E2019K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	2042						nucleus				ovary(2)|central_nervous_system(1)	3						CAGCATTTACGAAATCCAGGA	0.418		NaN											0	0	0	0.01441	0	48	79				
CELF4	56853	broad.mit.edu	37	18	34901838	34901838	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:34901838G>A	uc002lae.2	-	3	772	c.376C>T	c.(376-378)CGG>TGG	p.R126W	CELF4_uc010dnd.1_Missense_Mutation_p.R126W|CELF4_uc002lag.2_Missense_Mutation_p.R126W|CELF4_uc002laf.2_Missense_Mutation_p.R122W|CELF4_uc002lai.2_Missense_Mutation_p.R122W	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	126	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TGGATCGGCCGGTTCATCTGC	0.597		NaN									OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	41	67				
DSEL	92126	broad.mit.edu	37	18	65180301	65180301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr18:65180301C>T	uc002lke.1	-	2	2799	c.1575G>A	c.(1573-1575)TGG>TGA	p.W525*		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	515						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GTTGACCTTCCCAGGGCTTAT	0.488		NaN											0	0	0	0.019004	0	33	75				
CSNK1G2	1455	broad.mit.edu	37	19	1978971	1978971	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:1978971C>G	uc002lul.3	+	7	1084	c.561C>G	c.(559-561)ATC>ATG	p.I187M	CSNK1G2_uc010dsu.2_Missense_Mutation_p.I139M	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	187	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCATCGACTTCGGGC	0.617		NaN											0	0	0	0.027894	0	35	82				
AES	166	broad.mit.edu	37	19	3053861	3053861	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:3053861C>T	uc002lwy.1	-	7	723	c.550G>A	c.(550-552)GAT>AAT	p.D184N	AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.D183N|AES_uc002lxa.1_Missense_Mutation_p.D128N|AES_uc002lxb.1_Missense_Mutation_p.D251N|AES_uc002lxc.2_Missense_Mutation_p.R277Q	NM_001130	NP_001121	Q08117	AES_HUMAN	amino-terminal enhancer of split isoform b	184	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCACCATCGTGCCCGTTC	0.682		NaN											0	0	0	0.024334	0	19	83				
PLIN3	10226	broad.mit.edu	37	19	4852049	4852049	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:4852049G>A	uc002mbj.2	-	5	790	c.613C>T	c.(613-615)CCC>TCC	p.P205S	PLIN3_uc002mbk.2_Missense_Mutation_p.P193S|PLIN3_uc002mbl.3_Missense_Mutation_p.P205S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	205					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TCCGTAAGGGGCAGGTGGTTG	0.682		NaN									OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	18	81				
GPR108	56927	broad.mit.edu	37	19	6731901	6731901	+	Splice_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:6731901C>T	uc002mfp.2	-	14	1346	c.1300_splice	c.e14+1	p.V434_splice	GPR108_uc010duv.2_Intron|GPR108_uc002mfn.2_Splice_Site_p.V105_splice|GPR108_uc002mfo.3_Splice_Site_p.V192_splice|GPR108_uc010duw.2_Splice_Site	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1							integral to membrane					0						CAGGGCCTCACCCTTCCCGTC	0.662		NaN											0	0	0	0.020292	0	13	1				
CLEC4M	10332	broad.mit.edu	37	19	7833781	7833781	+	Silent	SNP	G	G	A	rs144974332		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7833781G>A	uc002mih.2	+	8	1156	c.1038G>A	c.(1036-1038)GCG>GCA	p.A346A	CLEC4M_uc010xjw.1_Silent_p.A302A|CLEC4M_uc010dvt.2_Silent_p.A323A|CLEC4M_uc010dvs.2_Silent_p.A345A|CLEC4M_uc010xjx.1_Silent_p.A318A|CLEC4M_uc002mhz.2_3'UTR|CLEC4M_uc002mic.2_3'UTR|CLEC4M_uc002mia.2_Silent_p.A233A	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	369	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						AAGACTGTGCGGAATTTAGTG	0.512		NaN											0	0	0	0.00499	0	14	148				
EVI5L	115704	broad.mit.edu	37	19	7918186	7918186	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:7918186G>C	uc002min.2	+	10	1267	c.1113G>C	c.(1111-1113)AAG>AAC	p.K371N	EVI5L_uc010xjz.1_Missense_Mutation_p.K371N|EVI5L_uc002mio.1_Missense_Mutation_p.K102N	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	371	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CAGCCATGAAGAGCAAGGAGA	0.627		NaN									OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	15				
MUC16	94025	broad.mit.edu	37	19	9017366	9017366	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9017366C>T	uc002mkp.2	-	26	38162	c.37958G>A	c.(37957-37959)AGG>AAG	p.R12653K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12655	SEA 4.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGACTGTTCCTGTCCAGGGT	0.567		NaN											0	0	0	0.01441	0	259	52				
MUC16	94025	broad.mit.edu	37	19	9072253	9072253	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9072253A>C	uc002mkp.2	-	3	15397	c.15193T>G	c.(15193-15195)TCC>GCC	p.S5065A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5067	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5065Y(1)		lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATAGGAGAGGAGAGCTTATCC	0.478		NaN											0	0	0	0.01441	0	65	18				
OR7G2	390882	broad.mit.edu	37	19	9213857	9213857	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9213857C>T	uc010xkk.1	-	1	126	c.126G>A	c.(124-126)CCG>CCA	p.P42P		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCTGCAGTTCCGGATCCTCTA	0.468		NaN											0	0	0	0.017118	0	30	94				
ZNF426	79088	broad.mit.edu	37	19	9639507	9639507	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:9639507G>A	uc002mlq.2	-	8	1478	c.1214C>T	c.(1213-1215)TCA>TTA	p.S405L	ZNF426_uc010dws.2_Missense_Mutation_p.S367L	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	405	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTAAGATTTGAGGAAACTGC	0.408		NaN											0	0	0	0.004482	0	8	27				
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:12187502A>G	uc002mtb.2	+	4	1710	c.1567A>G	c.(1567-1569)AAA>GAA	p.K523E	ZNF844_uc010dym.1_Missense_Mutation_p.K366E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAATGCATGAAAGGACTCAC	0.413		NaN											0	0	0	0.014758	0	4	44				
FCHO1	23149	broad.mit.edu	37	19	17892531	17892531	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:17892531G>A	uc010ebb.2	+	22	2028	c.1839G>A	c.(1837-1839)CGG>CGA	p.R613R	FCHO1_uc002nhg.3_Silent_p.R613R|FCHO1_uc002nhh.2_Silent_p.R613R|FCHO1_uc010xpw.1_Silent_p.R563R|FCHO1_uc002nhi.2_Silent_p.R69R|FCHO1_uc002nhj.2_5'UTR	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	613										breast(1)	1						GAGTCTCCCGGGGTCCGAGCC	0.627		NaN											0	0	0	0.01441	0	214	45				
KIAA1683	80726	broad.mit.edu	37	19	18378333	18378333	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378333C>G	uc002nin.2	-	3	233	c.17G>C	c.(16-18)AGA>ACA	p.R6T	KIAA1683_uc010ebn.2_Missense_Mutation_p.R6T|KIAA1683_uc010xqe.1_5'UTR	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	6						mitochondrion				ovary(2)	2						CAGGTCAGCTCTGCCTGTGGG	0.652		NaN											0	0	0	0.01441	0	88	177				
ZNF626	199777	broad.mit.edu	37	19	20807986	20807986	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:20807986C>G	uc002npb.1	-	4	847	c.697G>C	c.(697-699)GAA>CAA	p.E233Q	ZNF626_uc002npc.1_Missense_Mutation_p.E157Q	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	233	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTGCCACATTCTTCACATTTG	0.398		NaN											0	0	0	0.020292	0	11	41				
ZNF536	9745	broad.mit.edu	37	19	31039640	31039640	+	Silent	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:31039640A>G	uc002nsu.1	+	4	3252	c.3114A>G	c.(3112-3114)ACA>ACG	p.T1038T	ZNF536_uc010edd.1_Silent_p.T1038T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCGGGGTCACAGTCAACTGCA	0.537		NaN											0	0	0	0.015359	0	32	104				
PRX	57716	broad.mit.edu	37	19	40909668	40909668	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:40909668G>A	uc002onr.2	-	5	398	c.129C>T	c.(127-129)TTC>TTT	p.F43F	PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.F43F	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	43	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCCGAACGAAGATTCCCT	0.701		NaN											0	0	0	0.021553	0	5	15				
PNMAL2	57469	broad.mit.edu	37	19	46997598	46997598	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:46997598G>A	uc002pes.2	-	1	1572	c.1125C>T	c.(1123-1125)GTC>GTT	p.V375V	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	375										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGACGGACAAGACCTGTCGGA	0.642		NaN											0	0	0	0.004482	0	8	41				
PTGIR	5739	broad.mit.edu	37	19	47124612	47124612	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47124612G>A	uc002pex.2	-	3	1199	c.1086C>T	c.(1084-1086)CCC>CCT	p.P362P		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	362	Cytoplasmic (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACTGCTGTGTGGGAGGCAAGG	0.657		NaN											0	0	0	0.01441	0	53	15				
GRLF1	2909	broad.mit.edu	37	19	47424411	47424411	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:47424411G>A	uc010ekv.2	+	1	2479	c.2479G>A	c.(2479-2481)GGA>AGA	p.G827R		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	827					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		ACTACCAATCGGACTGCACAA	0.408		NaN											0	0	0	0.024334	0	23	33				
DBP	1628	broad.mit.edu	37	19	49136903	49136903	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:49136903G>A	uc002pjx.3	-	3	948	c.560C>T	c.(559-561)TCT>TTT	p.S187F	DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.S187F	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	187					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TGTGTCCCGAGAGGTCAGGCC	0.542		NaN											0	0	0	0.009535	0	29	81				
GPR32	2854	broad.mit.edu	37	19	51274466	51274466	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:51274466G>C	uc010ycf.1	+	1	609	c.609G>C	c.(607-609)CAG>CAC	p.Q203H		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	203	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGACTGCCCAGATTTGGATTG	0.552		NaN											0	0	0	0.01441	0	57	13				
UBE2M	9040	broad.mit.edu	37	19	59069644	59069644	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:59069644C>T	uc002qtl.3	-	1	700	c.105G>A	c.(103-105)CAG>CAA	p.Q35Q	LOC100131691_uc002qtm.2_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	35	Interaction with UBA3.			Q->A: Strongly impairs thioester intermediate formation.	protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTACCCTTCTGGATCCGCA	0.647		NaN											0	0	0	0.008871	0	17	58				
ABCG8	64241	broad.mit.edu	37	2	44101118	44101118	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:44101118C>T	uc002rtq.2	+	9	1494	c.1404C>T	c.(1402-1404)ATC>ATT	p.I468I	ABCG8_uc010yoa.1_Silent_p.I467I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	468	Helical; Name=2; (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGATGTCATCTCCAAATGTG	0.542		NaN											0	0	0	0.01441	0	62	97				
SLC4A5	57835	broad.mit.edu	37	2	74462335	74462335	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:74462335C>A	uc002sko.1	-	17	2328	c.2326G>T	c.(2326-2328)GCC>TCC	p.A776S	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.A776S|SLC4A5_uc010ffc.1_Missense_Mutation_p.A776S|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	776	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GCCACCAGGGCCCGGACCTGC	0.532		NaN											1	0	1.96292e-10	0.010504	2.08011e-10	20	10				
FABP1	2168	broad.mit.edu	37	2	88425824	88425824	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:88425824C>A	uc002sst.1	-	2	153	c.111G>T	c.(109-111)GGG>GGT	p.G37G	FABP1_uc002ssu.2_Silent_p.G37G	NM_001443	NP_001434	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	37					organ morphogenesis						0						TTTCCGACACCCCCTTGATAT	0.532		NaN											1	0	2.09629e-50	0.01441	2.36249e-50	104	197				
DPP10	57628	broad.mit.edu	37	2	116066873	116066873	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:116066873T>A	uc002tla.1	+	2	576	c.119T>A	c.(118-120)CTG>CAG	p.L40Q	DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Missense_Mutation_p.L36Q|DPP10_uc002tle.2_Missense_Mutation_p.L44Q|DPP10_uc002tlf.1_Missense_Mutation_p.L33Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	40	Mediates effects on KCND2.|Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATTGCTCTGCTGGTGATTTTA	0.408		NaN											0	0	0	0.021022	0	28	28				
TTN	7273	broad.mit.edu	37	2	179397839	179397839	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:179397839C>G	uc010zfg.1	-	307	96023	c.95799G>C	c.(95797-95799)GAG>GAC	p.E31933D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25628D|TTN_uc010zfi.1_Missense_Mutation_p.E25561D|TTN_uc010zfj.1_Missense_Mutation_p.E25436D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32860							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCAGAGCCTCTTTAGCTA	0.428		NaN											0	0	0	0.007835	0	37	60				
TNS1	7145	broad.mit.edu	37	2	218699859	218699859	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:218699859C>T	uc002vgt.2	-	19	3258	c.2860G>A	c.(2860-2862)GAG>AAG	p.E954K	TNS1_uc002vgr.2_Missense_Mutation_p.E954K|TNS1_uc002vgs.2_Missense_Mutation_p.E954K|TNS1_uc010zjv.1_Missense_Mutation_p.E954K	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	954						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCATCTCCTCGAAGGCCTCC	0.572		NaN											0	0	0	0.013114	0	38	13				
ALPP	250	broad.mit.edu	37	2	233245162	233245162	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr2:233245162C>G	uc002vsq.2	+	7	990	c.825C>G	c.(823-825)CTC>CTG	p.L275L	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	275						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCACTGAGCTCATGCAGGCTT	0.647		NaN											0	0	0	0.01441	0	65	117				
PANK2	80025	broad.mit.edu	37	20	3870313	3870313	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:3870313C>G	uc002wkc.2	+	1	572	c.566C>G	c.(565-567)TCT>TGT	p.S189C	uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	189					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						CGACTGGGCTCTTACAGCGGC	0.751		NaN											0	0	0	0.00308	0	6	38				
C20orf26	26074	broad.mit.edu	37	20	20051628	20051628	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:20051628G>T	uc002wru.2	+	3	350	c.274G>T	c.(274-276)GAC>TAC	p.D92Y	C20orf26_uc010gcw.1_Missense_Mutation_p.D46Y|C20orf26_uc010zse.1_Missense_Mutation_p.D92Y|C20orf26_uc010zsf.1_Missense_Mutation_p.D92Y	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	92										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCGGGAGCTCGACAGTGACAT	0.498		NaN											1	0	6.05902e-23	0.017118	6.64387e-23	28	136				
KCNS1	3787	broad.mit.edu	37	20	43727083	43727083	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:43727083G>A	uc002xnc.2	-	4	727	c.330C>T	c.(328-330)TTC>TTT	p.F110F	KCNS1_uc002xnd.2_Silent_p.F110F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	110	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GGCTCAGGAAGAAGCCCGGGT	0.692		NaN											0	0	0	0.024245	0	11	11				
ZNF335	63925	broad.mit.edu	37	20	44596540	44596540	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:44596540G>A	uc002xqw.2	-	5	770	c.647C>T	c.(646-648)CCG>CTG	p.P216L	ZNF335_uc010zxk.1_Missense_Mutation_p.P61L|ZNF335_uc002xqx.1_Missense_Mutation_p.P184L|ZNF335_uc002xqy.2_Missense_Mutation_p.P61L	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CAGCTGCACCGGGGAGCTGGG	0.647		NaN											0	0	0	0.021022	0	36	121				
PSMA7	5688	broad.mit.edu	37	20	60712444	60712444	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr20:60712444G>A	uc002ybx.1	-	6	745	c.630C>T	c.(628-630)GTC>GTT	p.V210V	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	210					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCGCCTCATGACAGCAAGTT	0.463		NaN									OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	125	75				
TPTE	7179	broad.mit.edu	37	21	10934109	10934109	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:10934109A>C	uc002yip.1	-	16	1236	c.868T>G	c.(868-870)TAC>GAC	p.Y290D	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y272D|TPTE_uc002yir.1_Missense_Mutation_p.Y252D|TPTE_uc010gkv.1_Missense_Mutation_p.Y152D	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	290	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGGATCGTAAGCTCTTTCA	0.303		NaN											0	0	0	0.024245	0	14	74				
TMPRSS2	7113	broad.mit.edu	37	21	42860419	42860419	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr21:42860419G>C	uc002yzj.2	-	5	481	c.347C>G	c.(346-348)TCT>TGT	p.S116C	TMPRSS2_uc010gor.2_Missense_Mutation_p.S153C|TMPRSS2_uc010gos.1_Missense_Mutation_p.S116C	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	116	Extracellular (Potential).|LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTCTATCCCAGAGTTGGAGCA	0.527		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								0	0	0	0.021022	0	38	12				
KLHL22	84861	broad.mit.edu	37	22	20812254	20812254	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20812254G>C	uc002zsl.1	-	5	1255	c.1146C>G	c.(1144-1146)ATC>ATG	p.I382M	KLHL22_uc011ahr.1_Missense_Mutation_p.I239M|KLHL22_uc002zsm.1_Missense_Mutation_p.I382M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	382	Kelch 2.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGGACTGGATCTGGAACC	0.602		NaN											0	0	0	0.013726	0	24	46				
MED15	51586	broad.mit.edu	37	22	20909319	20909319	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:20909319G>A	uc002zsp.2	+	5	415	c.335G>A	c.(334-336)GGG>GAG	p.G112E	MED15_uc002zsn.1_Missense_Mutation_p.G31E|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.G112E|MED15_uc010gso.2_Missense_Mutation_p.G112E|MED15_uc002zsr.2_Missense_Mutation_p.G86E|MED15_uc011ahs.1_Missense_Mutation_p.G86E|MED15_uc011aht.1_Missense_Mutation_p.G86E|MED15_uc002zss.2_Missense_Mutation_p.G31E	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCTCTGGGCGGGATGGGTAGC	0.647		NaN											0	0	0	0.009096	0	3	58				
DEPDC5	9681	broad.mit.edu	37	22	32275583	32275583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr22:32275583G>A	uc003als.2	+	37	3927	c.3785G>A	c.(3784-3786)TGG>TAG	p.W1262*	DEPDC5_uc011als.1_Nonsense_Mutation_p.W1193*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1293*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1284*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W711*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W560*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W110*|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.W288*|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W110*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1262					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CAGCGCAAGTGGTTTGAGGTG	0.612		NaN											0	0	0	0.01441	0	71	35				
C3orf31	132001	broad.mit.edu	37	3	11851124	11851124	+	Silent	SNP	C	C	T	rs140106641	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:11851124C>T	uc003bwh.2	-	6	983	c.741G>A	c.(739-741)CAG>CAA	p.Q247Q	C3orf31_uc003bwj.2_Silent_p.Q247Q|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Silent_p.Q247Q	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	247					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						ATGTCATCAGCTGAGTGAACT	0.398		NaN											0	0	0	0.027356	0	18	24				
ARPP21	10777	broad.mit.edu	37	3	35731587	35731587	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:35731587T>G	uc003cgb.2	+	8	764	c.500T>G	c.(499-501)CTT>CGT	p.L167R	ARPP21_uc003cga.2_Missense_Mutation_p.L167R|ARPP21_uc011axy.1_Missense_Mutation_p.L167R|ARPP21_uc003cgf.2_Missense_Mutation_p.L3R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	167	R3H.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AGGATGATACTTTTGAAAATG	0.294		NaN											0	0	0	0.004482	0	9	21				
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913403		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:41266113C>G	uc010hia.1	+	4	266	c.110C>G	c.(109-111)TCT>TGT	p.S37C	CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	37			S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				0	0	0	0.008871	0	19	20		Valid		
MAP4	4134	broad.mit.edu	37	3	47913544	47913544	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:47913544T>A	uc003csb.2	-	11	2895	c.2369A>T	c.(2368-2370)AAG>ATG	p.K790M	MAP4_uc003csc.3_Missense_Mutation_p.K790M|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K50M|MAP4_uc011bbe.1_Missense_Mutation_p.K541M|MAP4_uc003cry.2_Missense_Mutation_p.K525M|MAP4_uc003csa.3_Missense_Mutation_p.K525M|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.K525M	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	790					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGAAGCTGGCTTGGATGGTGA	0.562		NaN											0	0	0	0.01441	0	98	150				
DUSP7	1849	broad.mit.edu	37	3	52090150	52090150	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52090150C>A	uc003dct.2	-	1	312	c.233G>T	c.(232-234)CGG>CTG	p.R78L	DUSP7_uc010hma.2_Missense_Mutation_p.R78L	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	78	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCGTGCGGCCGGCAGTCGAG	0.627		NaN											1	0	2.0095e-06	0.001984	2.06774e-06	4	15				
POC1A	25886	broad.mit.edu	37	3	52179937	52179937	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52179937T>C	uc003dcu.2	-	6	922	c.604A>G	c.(604-606)ATT>GTT	p.I202V	POC1A_uc003dcv.2_Missense_Mutation_p.I164V|POC1A_uc003dcw.2_Missense_Mutation_p.I202V	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	202	WD 5.					centriole|microtubule basal body					0						GCAGCGGCAATGCACGTCCCA	0.592		NaN											0	0	0	0.015359	0	28	52				
TLR9	54106	broad.mit.edu	37	3	52256622	52256622	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52256622G>A	uc003dda.1	-	2	2344	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	TLR9_uc003ddb.2_Silent_p.F667F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	570	LRR 18.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGTGAGCCACGAAGCTGAAGT	0.642		NaN											0	0	0	0.01892	0	24	23				
TMEM110	375346	broad.mit.edu	37	3	52883817	52883817	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:52883817C>A	uc003dge.2	-	4	499	c.418G>T	c.(418-420)GGC>TGC	p.G140C	TMEM110_uc003dgc.3_Missense_Mutation_p.G140C	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	140						integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CCATATTCGCCGAAGCGCAGG	0.627		NaN											1	0	9.4991e-31	0.01441	1.0621e-30	58	14				
HESX1	8820	broad.mit.edu	37	3	57232284	57232284	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:57232284G>T	uc003din.3	-	4	833	c.499C>A	c.(499-501)CAT>AAT	p.H167N		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	167	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATTCTCTATGGGACCTTTTC	0.299		NaN											1	0	0.00024832	0.009096	0.000251867	3	21				
FLNB	2317	broad.mit.edu	37	3	58062849	58062849	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:58062849C>T	uc003djj.2	+	2	534	c.369C>T	c.(367-369)ATC>ATT	p.I123I	FLNB_uc010hne.2_Silent_p.I123I|FLNB_uc003djk.2_Silent_p.I123I|FLNB_uc010hnf.2_Silent_p.I123I|FLNB_uc003djl.2_5'Flank|FLNB_uc003djm.2_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	123	Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACTACTCCATCTCCATGCCCG	0.552		NaN											0	0	0	0.007835	0	37	60				
C3orf64	285203	broad.mit.edu	37	3	69031975	69031975	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:69031975C>T	uc003dnl.2	-	15	1606	c.1201G>A	c.(1201-1203)GAT>AAT	p.D401N	C3orf64_uc003dnj.2_Missense_Mutation_p.D80N|C3orf64_uc003dnk.2_Missense_Mutation_p.D317N|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	401						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TACTTGTAATCAACAATCTGG	0.388		NaN											0	0	0	0.00308	0	6	17				
OR5AC2	81050	broad.mit.edu	37	3	97806241	97806241	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:97806241T>G	uc011bgs.1	+	1	225	c.225T>G	c.(223-225)ACT>ACG	p.T75T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGCTTGTACTTCAACCTCTA	0.428		NaN											0	0	0	0.01441	0	46	125				
ALCAM	214	broad.mit.edu	37	3	105269058	105269058	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:105269058G>A	uc003dvx.2	+	12	2002	c.1462G>A	c.(1462-1464)GAA>AAA	p.E488K	ALCAM_uc003dvw.1_Missense_Mutation_p.E488K|ALCAM_uc003dvy.2_Missense_Mutation_p.E488K|ALCAM_uc010hpp.2_Missense_Mutation_p.E210K|ALCAM_uc003dvz.2_Missense_Mutation_p.E122K	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	488	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						TTGCACAGCAGAAAACCAACT	0.333		NaN											0	0	0	0.027356	0	25	19				
ACPP	55	broad.mit.edu	37	3	132056364	132056364	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:132056364C>T	uc010htp.2	+	5	611	c.521C>T	c.(520-522)TCA>TTA	p.S174L	ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Missense_Mutation_p.S174L	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	174						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						ACTTTGAAATCAGAGGAATTC	0.398		NaN											0	0	0	0.01441	0	53	10				
ETV5	2119	broad.mit.edu	37	3	185766491	185766491	+	Silent	SNP	G	G	A	rs151057501		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:185766491G>A	uc003fpz.2	-	13	1717	c.1470C>T	c.(1468-1470)CCC>CCT	p.P490P	ETV5_uc003fpy.2_Silent_p.P532P	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	490					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGAGGTAAGCGGGGCTGTCTT	0.597		NaN	T	TMPRSS2|SCL45A3	Prostate 								0	0	0	0.023175	0	33	70				
ATP13A3	79572	broad.mit.edu	37	3	194147857	194147857	+	Silent	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr3:194147857A>C	uc003fty.3	-	28	3474	c.3072T>G	c.(3070-3072)GGT>GGG	p.G1024G	ATP13A3_uc003ftx.3_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCCAAAAAAAACCCAAAGATT	0.388		NaN											0	0	0	0.013114	0	40	10				
PROM1	8842	broad.mit.edu	37	4	16077403	16077403	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:16077403T>G	uc003goo.2	-	1	339	c.127A>C	c.(127-129)ACC>CCC	p.T43P	PROM1_uc003gor.2_Missense_Mutation_p.T43P|PROM1_uc003gos.2_Missense_Mutation_p.T43P|PROM1_uc003got.2_Missense_Mutation_p.T43P|PROM1_uc003gou.2_Missense_Mutation_p.T43P|PROM1_uc003gop.2_Missense_Mutation_p.T43P|PROM1_uc003goq.3_Missense_Mutation_p.T43P|PROM1_uc010iec.1_5'UTR	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	43	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						GAGTCTTGGGTCTCATAATTT	0.488		NaN											0	0	0	0.007413	0	17	0				
PPARGC1A	10891	broad.mit.edu	37	4	23815314	23815314	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:23815314T>G	uc003gqs.2	-	8	1912	c.1792A>C	c.(1792-1794)AGA>CGA	p.R598R	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	598	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				AAGGTTTACCTTGAAGAGGAT	0.398		NaN											0	0	0	0.028581	0	11	22				
RBM47	54502	broad.mit.edu	37	4	40438583	40438583	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40438583G>A	uc003gvc.2	-	5	1915	c.1205C>T	c.(1204-1206)TCT>TTT	p.S402F	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.S364F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	402						nucleus	nucleotide binding|RNA binding			breast(3)	3						ACGACCAGCAGAATATCCCCC	0.507		NaN											0	0	0	0.01441	0	79	171				
RBM47	54502	broad.mit.edu	37	4	40440104	40440104	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:40440104G>A	uc003gvc.2	-	4	1517	c.807C>T	c.(805-807)TTC>TTT	p.F269F	RBM47_uc003gvd.2_Silent_p.F269F|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.F231F|RBM47_uc003gvg.1_Silent_p.F269F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	269	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(3)	3						AGCCGGGGTTGAACTGGCCGA	0.592		NaN											0	0	0	0.009718	0	41	52				
KIT	3815	broad.mit.edu	37	4	55564535	55564535	+	Silent	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:55564535A>T	uc010igr.2	+	3	510	c.423A>T	c.(421-423)CCA>CCT	p.P141P	KIT_uc010igs.2_Silent_p.P141P	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	141	Extracellular (Potential).|Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACAGACCCAGAAGTGACCA	0.512		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				0	0	0	0.024245	0	12	29				
KIAA1211	57482	broad.mit.edu	37	4	57181275	57181275	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:57181275C>T	uc003hbk.2	+	8	1998	c.1607C>T	c.(1606-1608)CCC>CTC	p.P536L	KIAA1211_uc010iha.2_Missense_Mutation_p.P529L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P446L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P422L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	536										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATGCCCCGGCCCTACACGTTC	0.642		NaN											0	0	0	0.008871	0	15	6				
DSPP	1834	broad.mit.edu	37	4	88534106	88534106	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:88534106C>T	uc003hqu.2	+	4	888	c.768C>T	c.(766-768)GAC>GAT	p.D256D		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	256					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGATGAAGACGAGGGTTCTG	0.507		NaN											0	0	0	0.024245	0	13	27				
PRDM5	11107	broad.mit.edu	37	4	121616352	121616352	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:121616352C>T	uc003idn.2	-	16	2057	c.1807G>A	c.(1807-1809)GAA>AAA	p.E603K	PRDM5_uc003ido.2_Missense_Mutation_p.E572K|PRDM5_uc010ine.2_3'UTR	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	603	C2H2-type 16.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						AACTGGCATTCTGCCAGGGGA	0.428		NaN											0	0	0	0.024334	0	24	37				
FSTL5	56884	broad.mit.edu	37	4	162421208	162421208	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr4:162421208T>C	uc003iqh.2	-	12	1854	c.1418A>G	c.(1417-1419)CAG>CGG	p.Q473R	FSTL5_uc003iqi.2_Missense_Mutation_p.Q472R|FSTL5_uc010iqv.2_Missense_Mutation_p.Q463R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	473						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTGCCTCTGAAATTCACA	0.338		NaN											0	0	0	0.00308	0	7	2				
IRX2	153572	broad.mit.edu	37	5	2749625	2749625	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:2749625T>C	uc003jda.2	-	2	768	c.526A>G	c.(526-528)AAC>GAC	p.N176D	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.N176D	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GTCATCTTGTTCTCCTTCTTG	0.597		NaN											0	0	0	0.025465	0	31	91				
TRIO	7204	broad.mit.edu	37	5	14507245	14507245	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:14507245G>A	uc003jff.2	+	56	8633	c.8627G>A	c.(8626-8628)CGC>CAC	p.R2876H	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2876	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R2876C(2)		skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACCAGGGTCGCCTCCTGGAC	0.567		NaN											0	0	0	0.00499	0	15	53				
FBXL7	23194	broad.mit.edu	37	5	15500819	15500819	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:15500819G>A	uc003jfn.1	+	1	515	c.34G>A	c.(34-36)GAG>AAG	p.E12K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	12					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GTACGGCAGTGAGGGTGAGTG	0.692		NaN											0	0	0	0.01441	0	100	280				
MYO10	4651	broad.mit.edu	37	5	16694540	16694540	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:16694540A>G	uc003jft.3	-	27	4208	c.3740T>C	c.(3739-3741)ATG>ACG	p.M1247T	MYO10_uc011cnc.1_Missense_Mutation_p.M126T|MYO10_uc011cnd.1_Missense_Mutation_p.M604T|MYO10_uc011cne.1_Missense_Mutation_p.M604T|MYO10_uc010itx.2_Missense_Mutation_p.M870T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1247	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TTCAAAGTACATCAGCTTGGA	0.562		NaN											0	0	0	0.01441	0	58	134				
CDC20B	166979	broad.mit.edu	37	5	54410097	54410097	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:54410097C>T	uc003jpo.1	-	12	1684	c.1509G>A	c.(1507-1509)CGG>CGA	p.R503R	CDC20B_uc003jpn.1_Silent_p.R499R|CDC20B_uc010ivu.1_Silent_p.R461R	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	503	WD 7.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			cagaaaacacccgggtctggt	0.199		NaN											0	0	0	0.013726	0	35	74				
CMYA5	202333	broad.mit.edu	37	5	79030171	79030171	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:79030171G>T	uc003kgc.2	+	2	5655	c.5583G>T	c.(5581-5583)TTG>TTT	p.L1861F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1861						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGAATTTGCCTTTGGAAC	0.343		NaN											1	0	2.17888e-05	0.006214	2.2259e-05	8	34				
WDR36	134430	broad.mit.edu	37	5	110441021	110441021	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:110441021C>T	uc003kpd.2	+	10	1340	c.1223C>T	c.(1222-1224)TCC>TTC	p.S408F	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	408	WD 5.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CAGTCATTTTCCACGGTACAT	0.348		NaN											0	0	0	0.001984	0	6	19				
GPX3	2878	broad.mit.edu	37	5	150407000	150407000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407000C>T	uc011dcm.1	+	5	584	c.367C>T	c.(367-369)CGA>TGA	p.R123*	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	123					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGGTATGTCCGACCAGGTGG	0.493		NaN											0	0	0	0.024334	0	23	59				
GPX3	2878	broad.mit.edu	37	5	150407039	150407039	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:150407039G>C	uc011dcm.1	+	5	623	c.406G>C	c.(406-408)GAG>CAG	p.E136Q	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	136					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CCAGCTCTTTGAGAAAGGGGA	0.527		NaN											0	0	0	0.020292	0	14	64				
NOP16	51491	broad.mit.edu	37	5	175811366	175811366	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr5:175811366G>A	uc011dfl.1	-	5	403	c.403C>T	c.(403-405)CGT>TGT	p.R135C	NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein homolog	135						nucleolus				ovary(1)|central_nervous_system(1)	2						TTCTCATCACGGGCCATGGCC	0.458		NaN											0	0	0	0.01892	0	19	50				
HIST1H1E	3008	broad.mit.edu	37	6	26156945	26156945	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:26156945G>T	uc003ngq.2	+	1	387	c.327G>T	c.(325-327)AAG>AAT	p.K109N	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	109	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						AACTCAACAAGAAGGCGGCCT	0.622		NaN											1	0	0.00010058	0.013537	0.000102382	13	28				
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32157485C>T	uc003oav.1	-	1	479	c.208G>A	c.(208-210)GAG>AAG	p.E70K	PBX2_uc003oaw.2_Missense_Mutation_p.E70K	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			ovary(1)	1						GCCTGGGCCTCGTCCAGGCTC	0.647		NaN											0	0	0	0.00874	0	31	34				
BRD2	6046	broad.mit.edu	37	6	32944130	32944130	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:32944130C>T	uc003ocn.3	+	6	2415	c.714C>T	c.(712-714)CTC>CTT	p.L238L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L238L|BRD2_uc003ocp.3_Silent_p.L118L|BRD2_uc010juh.2_Silent_p.L238L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	238					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCACTGTCCTCAACATTCCCC	0.567		NaN											0	0	0	0.010771	0	37	72				
GLP1R	2740	broad.mit.edu	37	6	39047367	39047367	+	Silent	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:39047367C>A	uc003ooj.3	+	11	1131	c.1071C>A	c.(1069-1071)ATC>ATA	p.I357I	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	357	Helical; Name=6; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TGACACTCATCCCCCTGCTGG	0.567		NaN											1	0	9.78306e-22	0.009535	1.06861e-21	24	55				
PGC	5225	broad.mit.edu	37	6	41708252	41708252	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:41708252G>C	uc003ora.1	-	6	793	c.744C>G	c.(742-744)CTC>CTG	p.L248L		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	248					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCTGCCAGTAGAGTTCCTGGG	0.617		NaN											0	0	0	0.01441	0	64	87				
CCND3	896	broad.mit.edu	37	6	42016405	42016405	+	Translation_Start_Site	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:42016405C>T	uc003orp.2	-	1	206	c.-211G>A	c.(-213--209)GGGTG>GGATG		CCND3_uc011duk.1_Translation_Start_Site|CCND3_uc011dum.1_Translation_Start_Site|TAF8_uc003orr.2_5'Flank|TAF8_uc003ors.2_5'Flank|TAF8_uc003ort.2_5'Flank|TAF8_uc003oru.1_5'Flank|TAF8_uc003orv.1_5'Flank|TAF8_uc011dun.1_5'Flank	NM_001136017	NP_001129489	P30281	CCND3_HUMAN	cyclin D3 isoform 1						cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGTCTCCACCCCTGCAGTG	0.672		NaN	T	IGH@	MM								0	0	0	0.006122	0	14	22		Valid		
ABCC10	89845	broad.mit.edu	37	6	43400684	43400684	+	Silent	SNP	C	C	T	rs145760020		TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:43400684C>T	uc003ouy.1	+	3	1181	c.966C>T	c.(964-966)CAC>CAT	p.H322H	ABCC10_uc003ouz.1_Silent_p.H279H|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	322	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACTAAGCCACGGCCTGCTCT	0.587		NaN											0	0	0	0.025465	0	34	57				
SLC25A27	9481	broad.mit.edu	37	6	46623750	46623750	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:46623750C>T	uc003oyh.2	+	2	528	c.277C>T	c.(277-279)CCC>TCC	p.P93S	SLC25A27_uc011dwb.1_Missense_Mutation_p.P93S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P93S|SLC25A27_uc011dwc.1_5'UTR|SLC25A27_uc003oyi.2_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	93	Solcar 1.|Helical; Name=2; (Potential).				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			AGGAGTGACACCCGCCATTTA	0.453		NaN											0	0	0	0.013114	0	35	72				
GSTA5	221357	broad.mit.edu	37	6	52698951	52698951	+	Silent	SNP	A	A	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:52698951A>C	uc003pba.1	-	5	472	c.402T>G	c.(400-402)CCT>CCG	p.P134P		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	134	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTCAAAGGCAGGGAAGTAGC	0.423		NaN											0	0	0	0.01441	0	52	92				
MDN1	23195	broad.mit.edu	37	6	90448114	90448114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:90448114C>T	uc003pnn.1	-	33	4770	c.4654G>A	c.(4654-4656)GAA>AAA	p.E1552K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1552					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTAAATCTTCACGGCTTGTG	0.393		NaN											0	0	0	0.024334	0	25	37				
CLVS2	134829	broad.mit.edu	37	6	123319295	123319295	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:123319295A>T	uc003pzi.1	+	2	1242	c.373A>T	c.(373-375)AAT>TAT	p.N125Y		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	125	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TTTTGCTGCCAATTGGGATCA	0.483		NaN											0	0	0	0.010504	0	19	31				
PHACTR2	9749	broad.mit.edu	37	6	143929448	143929448	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:143929448T>C	uc003qjq.3	+	1	132	c.2T>C	c.(1-3)ATG>ACG	p.M1T	PHACTR2_uc010khh.2_Missense_Mutation_p.M1T	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	1							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTGAGACATGGACAACGCC	0.542		NaN											0	0	0	0.016522	0	18	31				
GRM1	2911	broad.mit.edu	37	6	146720833	146720833	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:146720833C>T	uc010khw.1	+	8	3128	c.2658C>T	c.(2656-2658)GCC>GCT	p.A886A	GRM1_uc010khv.1_Silent_p.A886A|GRM1_uc003qll.2_Silent_p.A886A|GRM1_uc011edz.1_Silent_p.A886A|GRM1_uc011eea.1_Silent_p.A886A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	886	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGGGAATGCCAAGTGAGTTA	0.343		NaN											0	0	0	0.021553	0	6	7				
SYNE1	23345	broad.mit.edu	37	6	152674462	152674462	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:152674462T>A	uc010kiw.2	-	69	11791	c.11189A>T	c.(11188-11190)AAT>ATT	p.N3730I	SYNE1_uc003qot.3_Missense_Mutation_p.N3715I|SYNE1_uc003qou.3_Missense_Mutation_p.N3730I|SYNE1_uc010kja.1_Missense_Mutation_p.N435I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3730	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTAGCCACATTCTTGAAGTT	0.398		NaN								HNSCC(10;0.0054)			0	0	0	0.014758	0	5	103				
PNLDC1	154197	broad.mit.edu	37	6	160225085	160225085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:160225085C>T	uc003qsx.1	+	5	475	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	PNLDC1_uc003qsy.1_Nonsense_Mutation_p.Q113*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	102	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCAGTGTTCAGTTTTTGAA	0.343		NaN											0	0	0	0.01441	0	53	107				
CCR6	1235	broad.mit.edu	37	6	167550264	167550264	+	Silent	SNP	T	T	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr6:167550264T>G	uc003qvl.2	+	13	3022	c.546T>G	c.(544-546)ACT>ACG	p.T182T	CCR6_uc010kkm.2_Silent_p.T182T|CCR6_uc003qvn.3_Silent_p.T182T|CCR6_uc003qvm.3_Silent_p.T182T	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	182	Extracellular (Potential).			T -> S (in Ref. 4; AAB06949).	cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCAGCTCAACTTTTGTCTTCA	0.517		NaN											0	0	0	0.021022	0	35	40				
SKAP2	8935	broad.mit.edu	37	7	26709771	26709771	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:26709771C>T	uc003syc.2	-	12	1321	c.1028G>A	c.(1027-1029)GGA>GAA	p.G343E	SKAP2_uc011jzi.1_Missense_Mutation_p.G171E|SKAP2_uc011jzj.1_Missense_Mutation_p.G328E	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	343	SH3.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1						GCCAATGGCTCCCTTCATTTC	0.363		NaN											0	0	0	0.01892	0	19	28				
HOXA10	3206	broad.mit.edu	37	7	27213894	27213894	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:27213894G>A	uc011jzm.1	-	1	62	c.32C>T	c.(31-33)TCG>TTG	p.S11L	HOXA10_uc003syw.3_Intron	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	11					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ATAATTTGGCGAAGGGAGCAG	0.557		NaN											0	0	0	0.010771	0	46	86				
SEMA3A	10371	broad.mit.edu	37	7	83636800	83636800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:83636800C>A	uc003uhz.2	-	10	1324	c.1009G>T	c.(1009-1011)GGA>TGA	p.G337*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	337	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ACGGCTGATCCCTTGAAAATG	0.388		NaN											1	0	4.7546e-09	0.028581	4.98268e-09	15	19				
ZAN	7455	broad.mit.edu	37	7	100364700	100364700	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100364700C>A	uc003uwj.2	+	25	4845	c.4680C>A	c.(4678-4680)TTC>TTA	p.F1560L	ZAN_uc003uwk.2_Missense_Mutation_p.F1560L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.F137L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1560	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACCACTTCATGGGCACCT	0.607		NaN											1	0	4.25531e-23	0.01441	4.68414e-23	46	86				
MOGAT3	346606	broad.mit.edu	37	7	100841559	100841559	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:100841559G>A	uc003uyc.2	-	5	748	c.581C>T	c.(580-582)GCG>GTG	p.A194V	MOGAT3_uc010lhr.2_Missense_Mutation_p.A194V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	194					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCTCGTGCGCACCCCCCAC	0.677		NaN											0	0	0	0.01441	0	70	23				
PAX4	5078	broad.mit.edu	37	7	127253582	127253582	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:127253582G>T	uc010lld.1	-	5	749	c.543C>A	c.(541-543)TTC>TTA	p.F181L	PAX4_uc003vmf.2_Missense_Mutation_p.F179L|PAX4_uc003vmg.1_Missense_Mutation_p.F181L|PAX4_uc003vmh.2_Missense_Mutation_p.F179L	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	189	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCCACGCTGGAACTCTGCGG	0.587		NaN											1	0	4.96729e-08	0.008871	5.12986e-08	20	57				
CNTNAP2	26047	broad.mit.edu	37	7	147600709	147600709	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr7:147600709C>T	uc003weu.1	+	14	2667	c.2151C>T	c.(2149-2151)TAC>TAT	p.Y717Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	717	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCACTACTACTGGGGAGGCT	0.512		NaN								HNSCC(39;0.1)			0	0	0	0.004482	0	6	21				
ARHGEF10	9639	broad.mit.edu	37	8	1841803	1841803	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:1841803G>A	uc003wpr.2	+	12	1429	c.1251G>A	c.(1249-1251)AGG>AGA	p.R417R	ARHGEF10_uc003wpq.1_Silent_p.R442R|ARHGEF10_uc003wps.2_Silent_p.R379R|ARHGEF10_uc003wpt.2_Silent_p.R293R|ARHGEF10_uc003wpv.2_Silent_p.R150R|ARHGEF10_uc010lre.2_Silent_p.R97R	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	442	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTCTTAAGAGGATTTTGGAGG	0.313		NaN											0	0	0	0.024245	0	13	42				
LPL	4023	broad.mit.edu	37	8	19811640	19811640	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:19811640C>T	uc003wzk.3	+	5	921	c.551C>T	c.(550-552)CCA>CTA	p.P184L		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	184			P -> R (in LPL deficiency; Nijmegen; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GGCCTCGATCCAGCTGGACCT	0.453		NaN											0	0	0	0.008871	0	19	55				
CDCA2	157313	broad.mit.edu	37	8	25364307	25364307	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:25364307G>A	uc003xep.1	+	15	2604	c.2125G>A	c.(2125-2127)GAC>AAC	p.D709N	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.D694N|CDCA2_uc003xer.1_Missense_Mutation_p.D372N	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	709					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGCTGGAACTGACAGTCCTGT	0.373		NaN											0	0	0	0.00308	0	6	12				
DUSP26	78986	broad.mit.edu	37	8	33451114	33451114	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:33451114C>T	uc003xjp.2	-	3	706	c.373G>A	c.(373-375)GAC>AAC	p.D125N	DUSP26_uc003xjq.2_Missense_Mutation_p.D125N	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	125	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		ATGCTCATGTCAAAGGCTGGC	0.642		NaN											0	0	0	0.007835	0	32	94				
RP1	6101	broad.mit.edu	37	8	55539332	55539332	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:55539332A>G	uc003xsd.1	+	4	3038	c.2890A>G	c.(2890-2892)ATA>GTA	p.I964V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	964					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTGGAAAAATAAGTAATTT	0.328		NaN											0	0	0	0.007291	0	29	22				
PLAG1	5324	broad.mit.edu	37	8	57079893	57079893	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:57079893G>A	uc003xsq.3	-	3	863	c.412C>T	c.(412-414)CGT>TGT	p.R138C	PLAG1_uc003xsr.3_Missense_Mutation_p.R138C|PLAG1_uc010lyi.2_Missense_Mutation_p.R138C|PLAG1_uc010lyj.2_Missense_Mutation_p.R56C	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	138	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCCAAGTGACGTTTAAATCCA	0.448		NaN	T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								0	0	0	0.010729	0	9	30				
ZFHX4	79776	broad.mit.edu	37	8	77764201	77764201	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:77764201C>G	uc003yav.2	+	10	5296	c.4909C>G	c.(4909-4911)CAA>GAA	p.Q1637E	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1682E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1637E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1637						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCTCTGCTCAACCTGCACA	0.403		NaN								HNSCC(33;0.089)			0	0	0	0.008291	0	11	43				
PLEKHF2	79666	broad.mit.edu	37	8	96166422	96166422	+	Silent	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:96166422C>G	uc003yhn.1	+	2	397	c.150C>G	c.(148-150)CCC>CCG	p.P50P		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	50	PH.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					GGAAAAAGCCCAAAGCAAGGC	0.358		NaN											0	0	0	0.007413	0	17	63				
GDF6	392255	broad.mit.edu	37	8	97157377	97157377	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97157377C>T	uc003yhp.2	-	2	882	c.782G>A	c.(781-783)CGG>CAG	p.R261Q		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	261					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCCCAGACTCCGCAGGTCCGG	0.736		NaN											0	0	0	0.009096	0	3	16				
GDF6	392255	broad.mit.edu	37	8	97172829	97172829	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:97172829G>C	uc003yhp.2	-	1	192	c.92C>G	c.(91-93)TCC>TGC	p.S31C		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	31	Poly-Ser.				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGACGACGAGGAGGATGAGAT	0.647		NaN											0	0	0	0.01441	0	49	155				
SYBU	55638	broad.mit.edu	37	8	110588178	110588178	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:110588178C>G	uc003ynj.3	-	7	1112	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	SYBU_uc003yni.3_Missense_Mutation_p.E314Q|SYBU_uc003ynk.3_Missense_Mutation_p.E198Q|SYBU_uc010mco.2_Missense_Mutation_p.E316Q|SYBU_uc003ynl.3_Missense_Mutation_p.E316Q|SYBU_uc010mcp.2_Missense_Mutation_p.E317Q|SYBU_uc010mcq.2_Missense_Mutation_p.E317Q|SYBU_uc003yno.3_Missense_Mutation_p.E198Q|SYBU_uc010mcr.2_Missense_Mutation_p.E317Q|SYBU_uc003ynm.3_Missense_Mutation_p.E316Q|SYBU_uc003ynn.3_Missense_Mutation_p.E316Q|SYBU_uc010mcs.2_Missense_Mutation_p.E198Q|SYBU_uc010mct.2_Missense_Mutation_p.E317Q|SYBU_uc010mcu.2_Missense_Mutation_p.E316Q|SYBU_uc003ynp.3_Missense_Mutation_p.E249Q|SYBU_uc010mcv.2_Missense_Mutation_p.E317Q|SYBU_uc003ynh.3_Missense_Mutation_p.E111Q|SYBU_uc011lhw.1_Missense_Mutation_p.E187Q	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	317	Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CGGTGACACTCCTCCTCAATC	0.502		NaN											0	0	0	0.024334	0	26	73				
CSMD3	114788	broad.mit.edu	37	8	113318249	113318249	+	Silent	SNP	G	G	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:113318249G>T	uc003ynu.2	-	51	8217	c.8058C>A	c.(8056-8058)ACC>ACA	p.T2686T	CSMD3_uc003yns.2_Silent_p.T1888T|CSMD3_uc003ynt.2_Silent_p.T2646T|CSMD3_uc011lhx.1_Silent_p.T2582T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2686	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAGCGAGGGGTCTTGTTAT	0.343		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	0	1.08114e-33	0.01441	1.21361e-33	38	109				
PLEC	5339	broad.mit.edu	37	8	145049425	145049425	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr8:145049425C>T	uc003zaj.2	-	2	162	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	PLEC_uc003zah.2_5'Flank	NM_000445	NP_000436	Q15149	PLEC_HUMAN	plectin isoform 1c	141	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCGCCGGCTCCGCTGCGTTTT	0.667		NaN									OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	84	73				
PTPRD	5789	broad.mit.edu	37	9	8460469	8460469	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8460469G>A	uc003zkk.2	-	32	4528	c.3817C>T	c.(3817-3819)CCT>TCT	p.P1273S	PTPRD_uc003zkp.2_Missense_Mutation_p.P862S|PTPRD_uc003zkq.2_Missense_Mutation_p.P862S|PTPRD_uc003zkr.2_Missense_Mutation_p.P857S|PTPRD_uc003zks.2_Missense_Mutation_p.P852S|PTPRD_uc003zkl.2_Missense_Mutation_p.P1264S|PTPRD_uc003zkm.2_Missense_Mutation_p.P1260S|PTPRD_uc003zkn.2_Missense_Mutation_p.P862S|PTPRD_uc003zko.2_Missense_Mutation_p.P859S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1273	Helical; (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAAGGACAGGACCTACAACC	0.463		NaN								TSP Lung(15;0.13)			0	0	0	0.009718	0	39	42				
PTPRD	5789	broad.mit.edu	37	9	8465602	8465602	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:8465602G>A	uc003zkk.2	-	31	4289	c.3578C>T	c.(3577-3579)GCC>GTC	p.A1193V	PTPRD_uc003zkp.2_Missense_Mutation_p.A782V|PTPRD_uc003zkq.2_Missense_Mutation_p.A782V|PTPRD_uc003zkr.2_Missense_Mutation_p.A777V|PTPRD_uc003zks.2_Missense_Mutation_p.A772V|PTPRD_uc003zkl.2_Missense_Mutation_p.A1184V|PTPRD_uc003zkm.2_Missense_Mutation_p.A1180V|PTPRD_uc003zkn.2_Missense_Mutation_p.A782V|PTPRD_uc003zko.2_Missense_Mutation_p.A779V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1193	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGTGAGCGGCAATATATGG	0.428		NaN								TSP Lung(15;0.13)			0	0	0	0.009535	0	28	79				
FREM1	158326	broad.mit.edu	37	9	14859231	14859231	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:14859231C>T	uc003zlm.2	-	4	1171	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	194					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCTTCTGGTCGAGGCTCCCC	0.502		NaN											0	0	0	0.013726	0	31	41				
MLLT3	4300	broad.mit.edu	37	9	20414153	20414153	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:20414153C>G	uc003zoe.2	-	5	950	c.691G>C	c.(691-693)GAA>CAA	p.E231Q	MLLT3_uc011lne.1_Missense_Mutation_p.E199Q|MLLT3_uc011lnf.1_Missense_Mutation_p.E228Q|MLLT3_uc003zof.2_Missense_Mutation_p.E32Q	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTAGAGGATTCTTTGGAAGAT	0.378		NaN	T	MLL	ALL								0	0	0	0.01441	0	40	129				
APTX	54840	broad.mit.edu	37	9	32986023	32986023	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:32986023G>A	uc003zrm.2	-	4	686	c.489C>T	c.(487-489)TCC>TCT	p.S163S	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Silent_p.S75S|APTX_uc011lns.1_5'UTR|APTX_uc003zrl.2_5'UTR|APTX_uc003zrn.2_Silent_p.S75S|APTX_uc003zro.2_Silent_p.S163S|APTX_uc003zrp.2_Silent_p.S75S|APTX_uc003zrq.2_Silent_p.S75S|APTX_uc003zrr.2_Silent_p.S109S|APTX_uc003zrs.2_Silent_p.S163S|APTX_uc003zrt.2_Silent_p.S75S|APTX_uc003zru.2_Silent_p.S109S|APTX_uc003zrv.2_Silent_p.S177S|APTX_uc003zrw.2_Silent_p.S91S|APTX_uc003zrx.2_Silent_p.S163S|APTX_uc003zry.2_Silent_p.S163S|APTX_uc003zrz.2_5'UTR|APTX_uc003zsa.1_Silent_p.S109S|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	177					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AGTGGCCCAGGGATTCCTaaa	0.299		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.008291	0	10	44				
FAM75A6	389730	broad.mit.edu	37	9	43626815	43626815	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:43626815G>A	uc011lrb.1	-	4	1901	c.1872C>T	c.(1870-1872)GAC>GAT	p.D624D		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	624						integral to membrane					0						CTGGTGATTCGTCCCGAAGCT	0.547		NaN											0	0	0	0.006214	0	5	23				
OR1L3	26735	broad.mit.edu	37	9	125438220	125438220	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:125438220G>A	uc011lzb.1	+	1	812	c.812G>A	c.(811-813)CGA>CAA	p.R271Q		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	271	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTCAAGGACCGAATAGCAACA	0.408		NaN											0	0	0	0.006214	0	8	21				
RPL12	6136	broad.mit.edu	37	9	130210620	130210620	+	Silent	SNP	G	G	C			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130210620G>C	uc004bqy.1	-	5	463	c.375C>G	c.(373-375)CTC>CTG	p.L125L	RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Silent_p.L92L	NM_000976	NP_000967	P30050	RL12_HUMAN	ribosomal protein L12	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						TCTTACCAGAGAGTTCTCTGG	0.443		NaN											0	0	0	0.01441	0	80	143				
STXBP1	6812	broad.mit.edu	37	9	130422312	130422312	+	Missense_Mutation	SNP	G	G	A	rs34830702	byFrequency	TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:130422312G>A	uc004brl.2	+	5	447	c.250G>A	c.(250-252)GTC>ATC	p.V84I	STXBP1_uc004brk.2_Missense_Mutation_p.V84I	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	84			V -> D (in EIEE4; may alter protein structure).		axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCCACAGTCCGTCCACTCTCT	0.507		NaN											0	0	0	0.01892	0	20	51				
SPTAN1	6709	broad.mit.edu	37	9	131388155	131388155	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:131388155C>T	uc004bvl.3	+	47	6275	c.6162C>T	c.(6160-6162)ATC>ATT	p.I2054I	SPTAN1_uc004bvm.3_Silent_p.I2059I|SPTAN1_uc004bvn.3_Silent_p.I2034I|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2054	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCAAGGCCATCGAGGCCCGGC	0.602		NaN											0	0	0	0.01441	0	73	132				
COL5A1	1289	broad.mit.edu	37	9	137709646	137709646	+	Missense_Mutation	SNP	C	C	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137709646C>A	uc004cfe.2	+	54	4581	c.4199C>A	c.(4198-4200)CCC>CAC	p.P1400H		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1400	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCGCAGGCCCCGAAGGCAGA	0.662		NaN											1	0	2.80697e-09	0.010729	2.95252e-09	9	5				
COL5A1	1289	broad.mit.edu	37	9	137717708	137717708	+	Silent	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137717708C>T	uc004cfe.2	+	63	5407	c.5025C>T	c.(5023-5025)GCC>GCT	p.A1675A	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1675	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGA	0.592		NaN											0	0	0	0.015359	0	29	61				
COL5A1	1289	broad.mit.edu	37	9	137734025	137734025	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:137734025C>T	uc004cfe.2	+	66	5775	c.5393C>T	c.(5392-5394)ACG>ATG	p.T1798M	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1798	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACCAGAAGACGGTTCTGGAG	0.522		NaN											0	0	0	0.013537	0	10	59				
EGFL7	51162	broad.mit.edu	37	9	139565433	139565433	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr9:139565433G>A	uc004cid.2	+	8	1514	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q	EGFL7_uc004cif.2_Silent_p.Q201Q|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.Q201Q|EGFL7_uc004cie.2_Silent_p.Q201Q|EGFL7_uc004cih.2_Silent_p.Q201Q	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	201	Potential.				angiogenesis|vasculogenesis		calcium ion binding			ovary(1)	1	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAGAAGTGCAGAGGCTGCAGT	0.697		NaN											0	0	0	0.014758	0	4	5				
HUWE1	10075	broad.mit.edu	37	X	53672365	53672365	+	Silent	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:53672365G>A	uc004dsp.2	-	7	804	c.402C>T	c.(400-402)GTC>GTT	p.V134V		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	134					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GGAGATTGAGGACTGCCAGCA	0.458		NaN											0	0	0	0.008871	0	17	8				
TAZ	6901	broad.mit.edu	37	X	153648555	153648555	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chrX:153648555G>A	uc004fkx.2	+	9	955	c.651G>A	c.(649-651)ATG>ATA	p.M217I	TAZ_uc004fky.2_Missense_Mutation_p.M203I|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.M187I|TAZ_uc004flb.2_Missense_Mutation_p.M173I|TAZ_uc010nuy.2_Missense_Mutation_p.M221I|TAZ_uc004flc.3_Missense_Mutation_p.M187I	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	217					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGGAATGAATGACGTCC	0.637		NaN											0	0	0	0.01441	0	186	52				
KIAA0319L	79932	broad.mit.edu	37	1	35919962	35919962	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:35919962C>G	uc001byx.2	-	11	2038	c.1780_splice	c.e11+1	p.E594_splice	KIAA0319L_uc001byw.2_Splice_Site_p.E31_splice|KIAA0319L_uc010ohv.1_Splice_Site_p.E236_splice	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like							cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGAGCTTACCAGGTTGCAC	0.498		NaN											0	0	0	0.043863	0	16	96				
GBP7	388646	broad.mit.edu	37	1	89637586	89637586	+	Silent	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:89637586C>A	uc001dna.2	-	2	172	c.33G>T	c.(31-33)GTG>GTT	p.V11V		NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	11						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAGTGAGGCACACTGGGCCTG	0.483		NaN											1	0	0.000274275	0.047766	0.000287547	8	191				
AMY2B	280	broad.mit.edu	37	1	104117881	104117881	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:104117881C>A	uc001duq.2	+	8	1531	c.915C>A	c.(913-915)GAC>GAA	p.D305E	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D305E|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	305					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCCTTCTGACAGAGCACTTG	0.413		NaN											1	0	3.79751e-50	0.048971	4.57108e-50	116	233				
C1orf103	55791	broad.mit.edu	37	1	111495013	111495013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:111495013C>T	uc001eaa.2	-	2	749	c.493G>A	c.(493-495)GTT>ATT	p.V165I	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		TGGGTATTAACTACAATAAAA	0.418		NaN											0	0	0	0.069234	0	10	66				
RSBN1	54665	broad.mit.edu	37	1	114308928	114308928	+	Silent	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:114308928A>G	uc001edq.2	-	7	2119	c.2083T>C	c.(2083-2085)TTA>CTA	p.L695L	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	695						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGGCTAAGCTGCACACC	0.428		NaN											0	0	0	0.020292	0	15	131				
HMCN1	83872	broad.mit.edu	37	1	186143685	186143685	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:186143685A>G	uc001grq.1	+	103	16083	c.15854A>G	c.(15853-15855)TAT>TGT	p.Y5285C	HMCN1_uc001grs.1_Missense_Mutation_p.Y854C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5285	EGF-like 5; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGTGCAGATATAACCAGATA	0.408		NaN											0	0	0	0.09319	0	11	66				
OBSCN	84033	broad.mit.edu	37	1	228444535	228444535	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:228444535G>A	uc009xez.1	+	15	4537	c.4493G>A	c.(4492-4494)AGG>AAG	p.R1498K	OBSCN_uc001hsn.2_Missense_Mutation_p.R1498K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1498	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCACACGGAGGCTGGTGGTG	0.672		NaN											0	0	0	0.009096	0	4	45				
AKT3	10000	broad.mit.edu	37	1	243668581	243668581	+	Silent	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:243668581T>C	uc001iab.1	-	13	1491	c.1410A>G	c.(1408-1410)CAA>CAG	p.Q470Q	AKT3_uc001hzz.1_Intron|AKT3_uc001iaa.2_5'Flank	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	470	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTAGGAAAATTGAGGGAAAT	0.398		NaN											0	0	0	0.069288	0	23	21				
USP35	57558	broad.mit.edu	37	11	77924751	77924751	+	Silent	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr11:77924751G>T	uc009yva.1	+	11	3195	c.2949G>T	c.(2947-2949)CCG>CCT	p.P983P	USP35_uc001ozc.2_Silent_p.P551P|USP35_uc010rsp.1_Silent_p.P415P|USP35_uc001ozd.2_Silent_p.P594P|USP35_uc001ozf.2_Silent_p.P714P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	983					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACATCTCCGCACTGGGGGA	0.577		NaN											1	0	1.10923e-09	0.076483	1.2875e-09	25	126				
RASSF8	11228	broad.mit.edu	37	12	26217667	26217667	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:26217667C>A	uc001rgx.2	+	3	561	c.340C>A	c.(340-342)CCT>ACT	p.P114T	RASSF8_uc001rgy.2_Missense_Mutation_p.P114T|RASSF8_uc001rgz.2_Missense_Mutation_p.P114T|RASSF8_uc009zjd.1_Missense_Mutation_p.P114T|RASSF8_uc009zje.1_Missense_Mutation_p.P114T	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	114					signal transduction						0	Colorectal(261;0.0847)					TAAACTGAGGCCTCAGATTGA	0.458		NaN											1	0	3.09479e-21	0.092188	3.65748e-21	39	109				
KRT73	319101	broad.mit.edu	37	12	53012081	53012081	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:53012081G>A	uc001sas.2	-	1	263	c.228C>T	c.(226-228)GGC>GGT	p.G76G		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	76	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTGGCCCGGCCCCGGCCAA	0.637		NaN											0	0	0	0.048971	0	73	140				
FRS2	10818	broad.mit.edu	37	12	69968295	69968295	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:69968295A>C	uc001suy.2	+	10	1597	c.1087A>C	c.(1087-1089)AAG>CAG	p.K363Q	FRS2_uc001suz.2_Missense_Mutation_p.K363Q|FRS2_uc009zrj.2_Missense_Mutation_p.K363Q|FRS2_uc009zrk.2_Missense_Mutation_p.K363Q	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	363					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAAGCCCGCAAGCTAAGTAG	0.388		NaN											0	0	0	0.076483	0	22	901				
KNTC1	9735	broad.mit.edu	37	12	123041992	123041992	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr12:123041992C>T	uc001ucv.2	+	17	1497	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V	KNTC1_uc010taf.1_Missense_Mutation_p.A408V	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	445					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTGTGGATGCCAGTGAACAG	0.378		NaN											0	0	0	0.004672	0	3	56				
AKAP6	9472	broad.mit.edu	37	14	32902841	32902841	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:32902841T>A	uc001wrq.2	+	2	312	c.142T>A	c.(142-144)TCT>ACT	p.S48T	AKAP6_uc010aml.2_Missense_Mutation_p.S45T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	48					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGACATGGACTCTGACCAGCA	0.547		NaN											0	0	0	0.041601	0	32	77				
BRF1	2972	broad.mit.edu	37	14	105685542	105685542	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr14:105685542C>T	uc001yqp.2	-	13	1768	c.1405G>A	c.(1405-1407)GTG>ATG	p.V469M	BRF1_uc010tyo.1_Missense_Mutation_p.V354M|BRF1_uc010typ.1_Missense_Mutation_p.V376M|BRF1_uc001yqk.2_Translation_Start_Site|BRF1_uc001yql.2_Missense_Mutation_p.V265M|BRF1_uc001yqo.2_Missense_Mutation_p.V231M|BRF1_uc010axg.1_Missense_Mutation_p.V442M|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Translation_Start_Site	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	469					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCGGCCTTCACGCGGGCTTCC	0.642		NaN											0	0	0	0.048971	0	52	128				
USP8	9101	broad.mit.edu	37	15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:50782647C>A	uc001zym.3	+	15	2659	c.2159C>A	c.(2158-2160)CCA>CAA	p.P720Q	USP8_uc001zyl.3_Missense_Mutation_p.P720Q|USP8_uc001zyn.3_Missense_Mutation_p.P720Q|USP8_uc010ufh.1_Missense_Mutation_p.P614Q|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478		NaN											1	0	0.000274275	0.047766	0.000287547	8	170				
THSD4	79875	broad.mit.edu	37	15	72030241	72030241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr15:72030241C>T	uc002atb.1	+	10	1880	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	THSD4_uc010ukg.1_Nonsense_Mutation_p.R241*|THSD4_uc002ate.2_Nonsense_Mutation_p.R241*	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	601						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TTCTCCCCATCGACCGGACAA	0.597		NaN											0	0	0	0.048971	0	50	52				
WDR90	197335	broad.mit.edu	37	16	703599	703599	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:703599G>A	uc002cii.1	+	12	1362	c.1308G>A	c.(1306-1308)CGG>CGA	p.R436R	WDR90_uc002cig.1_Silent_p.R436R|WDR90_uc002cih.1_Silent_p.R437R|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	436	WD 1.									ovary(1)	1		Hepatocellular(780;0.0218)				GTGTGATGCGGCTCTGGGACT	0.657		NaN											0	0	0	0.048971	0	50	59				
GRIN2A	2903	broad.mit.edu	37	16	9858022	9858022	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:9858022C>A	uc002czo.3	-	13	3927	c.3379G>T	c.(3379-3381)GGT>TGT	p.G1127C	GRIN2A_uc010uym.1_Missense_Mutation_p.G1127C|GRIN2A_uc010uyn.1_Missense_Mutation_p.G970C|GRIN2A_uc002czr.3_Missense_Mutation_p.G1127C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1127	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGTGGAAACCAGGCTCCTTC	0.512		NaN											1	0	0.00829132	0.069234	0.00842087	10	260				
ABCC6	368	broad.mit.edu	37	16	16297362	16297362	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr16:16297362C>T	uc002den.3	-	8	940	c.903G>A	c.(901-903)AAG>AAA	p.K301K	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.K313K	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	301	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCCAGATGGCCTTCAGCAGTG	0.567		NaN											0	0	0	0.037714	0	23	53				
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:16593762G>A	uc002gqk.1	+	1	124	c.48G>A	c.(46-48)CCG>CCA	p.P16P		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	16											0						AGGGGTCTCCGAAGCCGGCAG	0.672		NaN											0	0	0	0.02938	0	7	42				
SDK2	54549	broad.mit.edu	37	17	71433929	71433929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:71433929G>A	uc010dfm.2	-	8	949	c.949C>T	c.(949-951)CAC>TAC	p.H317Y	SDK2_uc010dfn.2_5'UTR	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	317	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane				ovary(2)	2						GCAGTGATGTGTCTTTCTGGC	0.587		NaN											0	0	0	0.048971	0	53	92				
MUC16	94025	broad.mit.edu	37	19	9045585	9045585	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:9045585C>T	uc002mkp.2	-	5	36250	c.36046G>A	c.(36046-36048)GAG>AAG	p.E12016K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12018	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCACACTCTCAGAGGCCAAG	0.333		NaN											0	0	0	0.038395	0	18	15				
C19orf44	84167	broad.mit.edu	37	19	16612266	16612266	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:16612266G>T	uc002neh.1	+	2	736	c.663G>T	c.(661-663)TTG>TTT	p.L221F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L221F|C19orf44_uc002neg.2_Missense_Mutation_p.L221F|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	221											0						TGAAAGTATTGCTAGGAAGCT	0.433		NaN											1	0	8.10497e-08	0.055883	9.08316e-08	21	83				
NLRP12	91662	broad.mit.edu	37	19	54327327	54327327	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr19:54327327G>A	uc002qch.3	-	1	322	c.102C>T	c.(100-102)ACC>ACT	p.T34T	NLRP12_uc002qci.3_Silent_p.T34T|NLRP12_uc002qcj.3_Silent_p.T34T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T34T	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	34	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTCTGTCGCGGTCCCCAGGT	0.602		NaN											0	0	0	0.048971	0	51	98				
NRXN1	9378	broad.mit.edu	37	2	50850546	50850546	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:50850546C>T	uc010fbq.2	-	6	2616	c.1139G>A	c.(1138-1140)GGA>GAA	p.G380E	NRXN1_uc002rxb.3_Missense_Mutation_p.G27E|NRXN1_uc002rxe.3_Missense_Mutation_p.G347E|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	159	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCCCTGATCCCAAATTAAT	0.458		NaN											0	0	0	0.039052	0	43	94				
MTHFD2	10797	broad.mit.edu	37	2	74432845	74432845	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:74432845G>T	uc002skk.2	+	2	194	c.115G>T	c.(115-117)GTC>TTC	p.V39F	MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Missense_Mutation_p.V39F|MTHFD2_uc010yrp.1_Intron	NM_006636	NP_006627	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase 2	39					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding				0					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGAAGCTGTTGTCATTTCTGG	0.398		NaN											1	0	0.00307968	0.038147	0.00317745	8	51				
SCN2A	6326	broad.mit.edu	37	2	166245543	166245543	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166245543A>G	uc002udc.2	+	27	5517	c.5227A>G	c.(5227-5229)AAA>GAA	p.K1743E	SCN2A_uc002udd.2_Missense_Mutation_p.K1743E|SCN2A_uc002ude.2_Missense_Mutation_p.K1743E	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1743	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AAGCTCAGTTAAAGGAGACTG	0.458		NaN											0	0	0	0.048971	0	70	231				
TTN	7273	broad.mit.edu	37	2	179475790	179475790	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:179475790G>A	uc010zfg.1	-	219	43586	c.43362C>T	c.(43360-43362)GCC>GCT	p.A14454A	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A8149A|TTN_uc010zfi.1_Silent_p.A8082A|TTN_uc010zfj.1_Silent_p.A7957A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15381							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAAATTCCGGCATCTGCAC	0.393		NaN											0	0	0	0.021553	0	6	185				
PTPRT	11122	broad.mit.edu	37	20	40735463	40735463	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr20:40735463T>G	uc002xkg.2	-	24	3537	c.3353A>C	c.(3352-3354)GAG>GCG	p.E1118A	PTPRT_uc010ggj.2_Missense_Mutation_p.E1137A|PTPRT_uc010ggi.2_Missense_Mutation_p.E321A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1118	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCCGGAGCTCACGCACGCA	0.577		NaN											0	0	0	0.048971	0	76	191				
C3orf45	132228	broad.mit.edu	37	3	50324241	50324241	+	Silent	SNP	G	G	A	rs148270141		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:50324241G>A	uc003cyz.2	+	3	336	c.309G>A	c.(307-309)GCG>GCA	p.A103A		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	103	Helical; (Potential).					integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCTCGCGCTGCTGGTGC	0.622		NaN											0	0	0	0.080935	0	11	75				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr3:195505836G>C	uc011bto.1	-	3	12691	c.12231C>G	c.(12229-12231)CAC>CAG	p.H4077Q	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597		NaN											0	0	0	0.009096	0	4	5				
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:1803564C>T	uc003gdr.3	+	7	998	c.742C>T	c.(742-744)CGC>TGC	p.R248C	FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	248	Extracellular (Potential).		R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.567		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.080935	0	7	14		Valid		
CWH43	80157	broad.mit.edu	37	4	49040081	49040081	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:49040081A>T	uc003gyv.2	+	13	1869	c.1687A>T	c.(1687-1689)ATT>TTT	p.I563F	CWH43_uc011bzl.1_Missense_Mutation_p.I536F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	563					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ACTGCAGGCTATTGCTGTTTC	0.358		NaN											0	0	0	0.048971	0	58	226				
MMRN1	22915	broad.mit.edu	37	4	90857417	90857417	+	Silent	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:90857417G>A	uc003hst.2	+	6	2657	c.2586G>A	c.(2584-2586)TTG>TTA	p.L862L	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L604L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	862	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGACTCGGTTGCAAGACATTG	0.358		NaN											0	0	0	0.021553	0	6	26				
INPP4B	8821	broad.mit.edu	37	4	143159109	143159110	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:143159109_143159110CC>TG	uc003iix.3	-	13	1338_1339	c.743_744GG>CA	c.(742-744)TGG>TCA	p.W248S	INPP4B_uc003iiw.3_Missense_Mutation_p.W248S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.W63S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.W119S	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	248					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GAATTCGCATCCACTTATTGTC	0.327		NaN											0	0	0	0.004672	0	18	32				
FGG	2266	broad.mit.edu	37	4	155530879	155530879	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr4:155530879C>T	uc003ioj.2	-	6	710	c.569G>A	c.(568-570)AGC>AAC	p.S190N	FGG_uc003iog.2_Missense_Mutation_p.S190N|FGG_uc003ioh.2_Missense_Mutation_p.S198N|FGG_uc010ipx.2_Missense_Mutation_p.S18N|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.S198N	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	190	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTAAAGCCCGCTCTGTTTAGC	0.418		NaN											0	0	0	0.099896	0	26	98				
PARP8	79668	broad.mit.edu	37	5	50137809	50137809	+	Silent	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:50137809C>T	uc003jon.3	+	27	2654	c.2472C>T	c.(2470-2472)GAC>GAT	p.D824D	PARP8_uc011cpz.1_Silent_p.D716D|PARP8_uc003joo.2_Silent_p.D824D|PARP8_uc003jop.2_Silent_p.D782D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	824	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				GCTATGAAGACGGCCAAGTGG	0.333		NaN											0	0	0	0.009096	0	4	28				
MRPS36	92259	broad.mit.edu	37	5	68524147	68524147	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:68524147T>C	uc003jvq.2	+	3	311	c.227T>C	c.(226-228)ATA>ACA	p.I76T	MRPS36_uc003jvr.2_RNA	NM_033281	NP_150597	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	76					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACTGCAGAAATAATAAAAACA	0.388		NaN											0	0	0	0.048971	0	78	81				
PCDHAC2	56134	broad.mit.edu	37	5	140346900	140346900	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:140346900G>T	uc003lii.2	+	1	789	c.549G>T	c.(547-549)CAG>CAT	p.Q183H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.Q183H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	183	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAGTACAGACCTACGAGC	0.607		NaN											1	0	3.27435e-08	0.020292	3.73391e-08	15	14				
GABRB2	2561	broad.mit.edu	37	5	160721255	160721255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr5:160721255G>A	uc003lys.1	-	11	1590	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	GABRB2_uc011deh.1_Nonsense_Mutation_p.R259*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.R420*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.R420*|GABRB2_uc010jiu.1_Nonsense_Mutation_p.R357*	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	458	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCACATGTCGTTCCAGAGCA	0.527		NaN											0	0	0	0.104719	0	41	61				
C6orf27	80737	broad.mit.edu	37	6	31734406	31734406	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31734406T>C	uc011dog.1	-	14	2256	c.2018A>G	c.(2017-2019)GAG>GGG	p.E673G	C6orf27_uc003nxd.2_Missense_Mutation_p.E348G	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	673						extracellular region				ovary(3)	3						TCCCACGGGCTCCAAGGGCAC	0.652		NaN											0	0	0	0.030593	0	29	56				
CFB	629	broad.mit.edu	37	6	31901504	31901504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:31901504C>T	uc011dor.1	+	3	638	c.374C>T	c.(373-375)TCG>TTG	p.S125L	C2_uc003nyc.2_Missense_Mutation_p.R19W|C2_uc011doo.1_Missense_Mutation_p.R19W|C2_uc011dop.1_Missense_Mutation_p.S64L|C2_uc003nye.3_Missense_Mutation_p.S187L|C2_uc003nyf.2_Missense_Mutation_p.S187L|C2_uc010jtk.2_Missense_Mutation_p.S55L|C2_uc011doq.1_Missense_Mutation_p.S158L|C2_uc003nyg.2_Missense_Mutation_p.S55L	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						ACGGGGTCTTCGGAGCGGGAG	0.647		NaN											0	0	0	0.048971	0	63	74				
DLX6	1750	broad.mit.edu	37	7	96636997	96636997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:96636997G>A	uc003uom.2	+	3	400	c.400G>A	c.(400-402)GGA>AGA	p.G134R	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	44					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGGTTCAATGGAAAAGGGAA	0.478		NaN											0	0	0	0.02938	0	6	21				
CSMD1	64478	broad.mit.edu	37	8	3076926	3076926	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:3076926T>C	uc011kwk.1	-	29	4916	c.4526A>G	c.(4525-4527)TAT>TGT	p.Y1509C	CSMD1_uc011kwj.1_Missense_Mutation_p.Y901C|CSMD1_uc003wqe.2_Missense_Mutation_p.Y665C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1509	Extracellular (Potential).|CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCCTTCATAGATGTGTAG	0.443		NaN											0	0	0	0.009096	0	4	8				
CSMD3	114788	broad.mit.edu	37	8	113668395	113668395	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113668395T>A	uc003ynu.2	-	18	3151	c.2992A>T	c.(2992-2994)ATT>TTT	p.I998F	CSMD3_uc003yns.2_Missense_Mutation_p.I270F|CSMD3_uc003ynt.2_Missense_Mutation_p.I958F|CSMD3_uc011lhx.1_Missense_Mutation_p.I894F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	998	Extracellular (Potential).|CUB 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCATAATGAATCTTGAAACCA	0.308		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.020292	0	14	68				
CSMD3	114788	broad.mit.edu	37	8	113678640	113678640	+	Silent	SNP	T	T	A			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:113678640T>A	uc003ynu.2	-	17	2841	c.2682A>T	c.(2680-2682)CCA>CCT	p.P894P	CSMD3_uc003yns.2_Silent_p.P166P|CSMD3_uc003ynt.2_Silent_p.P854P|CSMD3_uc011lhx.1_Silent_p.P790P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	894	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGCCACCACATGGGGCTGAAA	0.378		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.080935	0	10	20				
HSF1	3297	broad.mit.edu	37	8	145533230	145533230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr8:145533230C>T	uc003zbt.3	+	3	486	c.316C>T	c.(316-318)CGT>TGT	p.R106C	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	106	By similarity.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ATGCTTCCTGCGTGGCCAGGA	0.612		NaN											0	0	0	0.048971	0	62	109				
PLEKHN1	84069	broad.mit.edu	37	1	909923	909923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:909923G>C	uc001ace.2	+	15	1995	c.1960G>C	c.(1960-1962)GAG>CAG	p.E654Q	PLEKHN1_uc001acd.2_Missense_Mutation_p.E602Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E567Q	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	654											0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGGAGGGCCTGAGGCCAGTGG	0.662		NaN											0	0	0	0.004482	0	9	20				
NOL9	79707	broad.mit.edu	37	1	6592664	6592664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:6592664C>T	uc001ans.2	-	8	1413	c.1394G>A	c.(1393-1395)AGA>AAA	p.R465K	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	465					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGATTTCTCATCTTGGT	0.433		NaN											0	0	0	0.01441	0	46	147				
RERE	473	broad.mit.edu	37	1	8418325	8418325	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:8418325G>C	uc001ape.2	-	21	5080	c.4270C>G	c.(4270-4272)CCG>GCG	p.P1424A	RERE_uc001apf.2_Missense_Mutation_p.P1424A|RERE_uc001apd.2_Missense_Mutation_p.P870A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1424					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgatggtgCGGAGTCACGTTG	0.438		NaN											0	0	0	0.006214	0	10	34				
CLSTN1	22883	broad.mit.edu	37	1	9801223	9801223	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:9801223G>A	uc001aqh.2	-	10	2207	c.1448C>T	c.(1447-1449)TCT>TTT	p.S483F	CLSTN1_uc001aqi.2_Missense_Mutation_p.S473F|CLSTN1_uc010oag.1_Missense_Mutation_p.S483F	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	483	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGTCACAGAGAAGGGCTC	0.552		NaN											0	0	0	0.010504	0	19	79				
CASZ1	54897	broad.mit.edu	37	1	10725233	10725233	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:10725233C>G	uc001aro.2	-	5	732	c.412G>C	c.(412-414)GAG>CAG	p.E138Q	CASZ1_uc001arp.1_Missense_Mutation_p.E138Q|CASZ1_uc009vmx.2_Missense_Mutation_p.E162Q	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGAGGGCTCCTCCGCGTGG	0.692		NaN											0	0	0	0.001855	0	11	57				
MTOR	2475	broad.mit.edu	37	1	11184592	11184592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:11184592G>C	uc001asd.2	-	47	6746	c.6625C>G	c.(6625-6627)CTG>GTG	p.L2209V	MTOR_uc001asc.2_Missense_Mutation_p.L414V	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2209	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCATTGGCCAGAAGGGTGTTA	0.463		NaN											0	0	0	0.00245	0	15	72				
VPS13D	55187	broad.mit.edu	37	1	12333105	12333105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333105C>T	uc001atv.2	+	18	2290	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	VPS13D_uc001atw.2_Nonsense_Mutation_p.Q717*|VPS13D_uc001atx.2_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	717					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCTGCCCCTCAGGTGATATT	0.428		NaN											0	0	0	0.007291	0	27	101				
VPS13D	55187	broad.mit.edu	37	1	12333134	12333134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:12333134C>G	uc001atv.2	+	18	2319	c.2178C>G	c.(2176-2178)TTC>TTG	p.F726L	VPS13D_uc001atw.2_Missense_Mutation_p.F726L|VPS13D_uc001atx.2_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	726					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTCAAATTCAAGAATCCTG	0.423		NaN											0	0	0	0.008871	0	19	88				
PADI2	11240	broad.mit.edu	37	1	17395563	17395563	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395563G>A	uc001baf.2	-	16	2056	c.1974C>T	c.(1972-1974)TTC>TTT	p.F658F	PADI2_uc010ocm.1_Silent_p.F542F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	658					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCACCACTTGAAGGTGAAGG	0.592		NaN											0	0	0	0.003755	0	33	117				
PADI2	11240	broad.mit.edu	37	1	17395644	17395644	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17395644G>A	uc001baf.2	-	16	1975	c.1893C>T	c.(1891-1893)TTC>TTT	p.F631F	PADI2_uc010ocm.1_Silent_p.F515F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	631					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGTCGTCGATGAAGGTGCATT	0.597		NaN											0	0	0	0.00623	0	38	142				
PADI3	51702	broad.mit.edu	37	1	17575710	17575710	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:17575710C>A	uc001bai.2	+	1	118	c.78C>A	c.(76-78)CTC>CTA	p.L26L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	26					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGAGACCCTCGTGGACATTT	0.602		NaN											1	0	6.94344e-10	0.006122	7.10421e-10	17	105				
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	G	A	rs138587317		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:21889741G>A	uc001bet.2	+	5	693	c.436G>A	c.(436-438)GAG>AAG	p.E146K	ALPL_uc010odn.1_Missense_Mutation_p.E94K|ALPL_uc010odo.1_Missense_Mutation_p.E91K|ALPL_uc010odp.1_Missense_Mutation_p.E69K|ALPL_uc001beu.3_Missense_Mutation_p.E146K	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.547		NaN											0	0	0	0.004007	0	17	61				
PAFAH2	5051	broad.mit.edu	37	1	26288494	26288494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:26288494G>C	uc001bld.3	-	11	1345	c.1165C>G	c.(1165-1167)CTG>GTG	p.L389V	PAFAH2_uc001ble.3_Missense_Mutation_p.L389V	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	389					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGACAGATGGTGGGGG	0.488		NaN											0	0	0	0.01441	0	83	252				
ARID1A	8289	broad.mit.edu	37	1	27106166	27106166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:27106166G>C	uc001bmv.1	+	20	6150	c.5777G>C	c.(5776-5778)GGA>GCA	p.G1926A	ARID1A_uc001bmu.1_Missense_Mutation_p.G1709A|ARID1A_uc001bmx.1_Missense_Mutation_p.G772A|ARID1A_uc009vsm.1_Missense_Mutation_p.G254A|ARID1A_uc009vsn.1_Missense_Mutation_p.G168A	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1926					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCGAGGATGGAGCTAAGAGT	0.542		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	47	143		Valid		
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29070328G>C	uc001brc.2	+	4	2043	c.1546G>C	c.(1546-1548)GAG>CAG	p.E516Q	YTHDF2_uc001brd.2_Missense_Mutation_p.E513Q|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466Q|YTHDF2_uc001bre.2_Missense_Mutation_p.E466Q	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	516	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478		NaN											0	0	0	0.007291	0	30	58				
PTPRU	10076	broad.mit.edu	37	1	29609213	29609213	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:29609213G>A	uc001bru.2	+	12	2004	c.1894G>A	c.(1894-1896)GAG>AAG	p.E632K	PTPRU_uc001brv.2_Missense_Mutation_p.E632K|PTPRU_uc001brw.2_Missense_Mutation_p.E632K|PTPRU_uc009vtq.2_Missense_Mutation_p.E632K|PTPRU_uc009vtr.2_Missense_Mutation_p.E632K	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	632	Extracellular (Potential).|Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGGAGGAGGAGCGGGCGCG	0.582		NaN											0	0	0	0.008871	0	16	47				
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:33245110C>T	uc001bvy.1	-	12	2137	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H	YARS_uc001bvw.1_Missense_Mutation_p.R110H|YARS_uc001bvx.1_Missense_Mutation_p.R101H	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557		NaN											0	0	0	0.013726	0	34	83				
SFPQ	6421	broad.mit.edu	37	1	35654606	35654606	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:35654606C>G	uc001bys.2	-	6	1788	c.1695G>C	c.(1693-1695)TTG>TTC	p.L565F	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	565					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AATTTTACCTCAATTGCATTT	0.229		NaN	T	TFE3	papillary renal cell								0	0	0	0.004672	0	3	46				
MACF1	23499	broad.mit.edu	37	1	39797236	39797236	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:39797236G>C	uc010oiu.1	+	1	427	c.296G>C	c.(295-297)GGA>GCA	p.G99A	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1664	Plectin 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCAACTGGAGGTTTCAGT	0.433		NaN											0	0	0	0.010818	0	29	114				
KIAA0467	23334	broad.mit.edu	37	1	43893963	43893963	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43893963G>A	uc001cjk.1	+	13	1737	c.1275G>A	c.(1273-1275)CTG>CTA	p.L425L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1324						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGATTTGCTGACAGCGGTAG	0.547		NaN											0	0	0	0.00278	0	23	74				
KIAA0467	23334	broad.mit.edu	37	1	43905293	43905293	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:43905293C>G	uc001cjk.1	+	35	4660	c.4198C>G	c.(4198-4200)CTA>GTA	p.L1400V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2299						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCATCACTCTAGCCTTTGT	0.622		NaN											0	0	0	0.00874	0	40	170				
CYP4A22	284541	broad.mit.edu	37	1	47614449	47614449	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:47614449G>A	uc001cqv.1	+	12	1591	c.1540G>A	c.(1540-1542)GAA>AAA	p.E514K		NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	514						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						TAACCCTTGTGAAGACAAGGA	0.463		NaN											0	0	0	0.000602	0	5	87				
CYB5RL	606495	broad.mit.edu	37	1	54644891	54644891	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:54644891G>C	uc009vzo.2	-	7	995	c.675C>G	c.(673-675)ATC>ATG	p.I225M	CYB5RL_uc001cww.2_Missense_Mutation_p.I115M|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.I77M	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	225							cytochrome-b5 reductase activity				0						TTTTCAGGTAGATGCTCTCAA	0.512		NaN											0	0	0	0.001984	0	7	12				
C1orf175	374977	broad.mit.edu	37	1	55136238	55136238	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:55136238G>C	uc010ooe.1	+	6	1782	c.1458G>C	c.(1456-1458)CTG>CTC	p.L486L	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L54L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L4L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L486L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	486						integral to membrane	binding				0						TGGAGATCCTGACCCAGCTGA	0.378		NaN											0	0	0	0.008291	0	9	30				
HOOK1	51361	broad.mit.edu	37	1	60336747	60336747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:60336747G>T	uc009wad.2	+	22	2083	c.1981G>T	c.(1981-1983)GAA>TAA	p.E661*	HOOK1_uc001czo.2_Nonsense_Mutation_p.E661*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E619*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	661	Sufficient for interaction with AKTIP and VPS18.			EE->AA: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, but does not affect interaction with HOOK2 or HOOK3; when associated with 669-A-A-670.	early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					CCGTGATTATGAAGAAAAACT	0.328		NaN											1	0	3.5997e-14	0.014323	3.71169e-14	19	45				
JAK1	3716	broad.mit.edu	37	1	65304176	65304176	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:65304176T>A	uc001dbu.1	-	21	3188	c.2939A>T	c.(2938-2940)CAG>CTG	p.Q980L	JAK1_uc009wam.1_Missense_Mutation_p.Q968L|JAK1_uc009wal.1_Missense_Mutation_p.Q157L	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	980	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.E966_K989del(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATATTTTAGCTGCTGTTTGAG	0.358		NaN	Mis		ALL								0	0	0	0.003954	0	23	92				
SLC44A5	204962	broad.mit.edu	37	1	75699699	75699699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:75699699C>T	uc001dgu.2	-	12	969	c.825G>A	c.(823-825)ATG>ATA	p.M275I	SLC44A5_uc001dgt.2_Missense_Mutation_p.M275I|SLC44A5_uc001dgs.2_Missense_Mutation_p.M233I|SLC44A5_uc001dgr.2_Missense_Mutation_p.M233I|SLC44A5_uc010oqz.1_Missense_Mutation_p.M314I|SLC44A5_uc010ora.1_Missense_Mutation_p.M269I|SLC44A5_uc010orb.1_Missense_Mutation_p.M145I	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	275	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TCACACCAATCATGAAGACCC	0.373		NaN											0	0	0	0.00874	0	38	134				
USP33	23032	broad.mit.edu	37	1	78163603	78163603	+	Silent	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:78163603A>G	uc001dht.2	-	24	2963	c.2616T>C	c.(2614-2616)CCT>CCC	p.P872P	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.L559P|USP33_uc001dhu.2_Silent_p.P841P	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	872	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TATTGTCAATAGGACCTGGAG	0.313		NaN											0	0	0	0.01441	0	51	142				
LPHN2	23266	broad.mit.edu	37	1	82456494	82456494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:82456494G>C	uc001dit.3	+	21	4058	c.3877G>C	c.(3877-3879)GAC>CAC	p.D1293H	LPHN2_uc001dis.2_Missense_Mutation_p.D273H|LPHN2_uc001diu.2_Missense_Mutation_p.D1293H|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.D920H	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1349	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGGGAACTGACAGCTATGT	0.512		NaN											0	0	0	0.004656	0	28	100				
COL24A1	255631	broad.mit.edu	37	1	86554904	86554904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:86554904G>C	uc001dlj.2	-	7	1702	c.1660C>G	c.(1660-1662)CAA>GAA	p.Q554E	COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554E	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	554	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAAAGGCCTTGATCACCCTAT	0.294		NaN											0	0	0	0.00632	0	24	72				
CCBL2	56267	broad.mit.edu	37	1	89426873	89426873	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:89426873G>C	uc001dmp.2	-	8	1141	c.764C>G	c.(763-765)TCT>TGT	p.S255C	CCBL2_uc001dmq.2_Missense_Mutation_p.S221C|CCBL2_uc001dmr.2_Missense_Mutation_p.S91C	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	255					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTATTTCCAGAATATACAAG	0.383		NaN											0	0	0	0.008361	0	28	110				
LRRC8B	23507	broad.mit.edu	37	1	90049431	90049431	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:90049431G>C	uc001dni.2	+	7	1729	c.1222G>C	c.(1222-1224)GAG>CAG	p.E408Q	LRRC8B_uc001dnh.2_Missense_Mutation_p.E408Q|LRRC8B_uc001dnj.2_Missense_Mutation_p.E408Q	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	408						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ATGGACAGTTGAGAAACTGAA	0.383		NaN											0	0	0	0.012319	0	22	89				
TGFBR3	7049	broad.mit.edu	37	1	92193314	92193314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:92193314G>C	uc001doh.2	-	7	1253	c.787C>G	c.(787-789)CTT>GTT	p.L263V	TGFBR3_uc009wde.2_Missense_Mutation_p.L41V|TGFBR3_uc010osy.1_Missense_Mutation_p.L221V|TGFBR3_uc001doi.2_Missense_Mutation_p.L263V|TGFBR3_uc001doj.2_Missense_Mutation_p.L263V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	263	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACCACTTCAAGATCCTCTTGA	0.383		NaN											0	0	0	0.007413	0	18	74				
CCDC18	343099	broad.mit.edu	37	1	93649605	93649605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:93649605C>T	uc001dpq.2	+	3	727	c.559C>T	c.(559-561)CAG>TAG	p.Q187*		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	69										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTGGATGTTCAGCCTAGCCA	0.353		NaN											0	0	0	0.011902	0	43	134				
FAM102B	284611	broad.mit.edu	37	1	109103109	109103109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:109103109C>T	uc010ouy.1	+	1	139	c.59C>T	c.(58-60)TCA>TTA	p.S20L		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	20										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GAGCTCTCCTCAGTGCCCTTC	0.627		NaN											0	0	0	0.006122	0	18	62				
RBM15	64783	broad.mit.edu	37	1	110882500	110882500	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:110882500C>T	uc001dzl.1	+	1	556	c.473C>T	c.(472-474)TCC>TTC	p.S158F	RBM15_uc001dzm.1_Missense_Mutation_p.S158F|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	158	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGCCGCCTCCTCAGCTCCC	0.642		NaN	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	11	53				
CHIA	27159	broad.mit.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:111854982C>G	uc001eas.2	+	4	329	c.226C>G	c.(226-228)CTC>GTC	p.L76V	CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	76					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.443		NaN											0	0	0	0.010771	0	42	116				
SLC16A1	6566	broad.mit.edu	37	1	113460506	113460506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:113460506C>T	uc001ecx.2	-	4	1354	c.522G>A	c.(520-522)TGG>TGA	p.W174*	SLC16A1_uc001ecy.2_Nonsense_Mutation_p.W174*|SLC16A1_uc001ecz.2_Nonsense_Mutation_p.W174*	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	174	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCTTCCTCTCCATCCAAAGA	0.557		NaN											0	0	0	0.008871	0	21	73				
NOTCH2	4853	broad.mit.edu	37	1	120529700	120529700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:120529700C>G	uc001eik.2	-	5	1013	c.757G>C	c.(757-759)GAA>CAA	p.E253Q	NOTCH2_uc001eil.2_Missense_Mutation_p.E253Q|NOTCH2_uc001eim.3_Missense_Mutation_p.E170Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	253	EGF-like 6.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCTCCCTTCAAAACCTGGT	0.453		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.004007	0	17	63				
NBPF9	400818	broad.mit.edu	37	1	144619367	144619367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:144619367G>A	uc009wig.1	+	7	590	c.514G>A	c.(514-516)GAA>AAA	p.E172K	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E172K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E103K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E103K|NBPF9_uc010oyg.1_Missense_Mutation_p.E137K|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	172	NBPF 1.					cytoplasm					0						AGATGAGGATGAAGATGTTCA	0.418		NaN											0	0	0	0.009718	0	34	396				
NBPF9	400818	broad.mit.edu	37	1	144619391	144619391	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:144619391G>A	uc009wig.1	+	7	614	c.538G>A	c.(538-540)GAG>AAG	p.E180K	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E180K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E111K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E111K|NBPF9_uc010oyg.1_Missense_Mutation_p.E145K|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	180	NBPF 1.					cytoplasm					0						TGAGGAGGATGAGAAAGTGCA	0.418		NaN											0	0	0	0.01441	0	44	431				
NBPF10	100132406	broad.mit.edu	37	1	146399560	146399560	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:146399560G>C	uc001emp.3	+	14	2510	c.1312G>C	c.(1312-1314)GAT>CAT	p.D438H	uc010ozk.1_5'UTR	NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC55672	167											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATAGAAAATGATGAAGATGA	0.413		NaN											0	0	0	0.007835	0	25	153				
CGN	57530	broad.mit.edu	37	1	151498241	151498241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:151498241G>T	uc009wmw.2	+	9	1882	c.1738G>T	c.(1738-1740)GAG>TAG	p.E580*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	574	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGAACAAGGAGGATCTTAG	0.468		NaN											1	0	1.58986e-06	0.008291	1.61776e-06	10	45				
TCHH	7062	broad.mit.edu	37	1	152083887	152083887	+	Silent	SNP	C	C	T	rs115769840	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152083887C>T	uc001ezp.2	-	2	1806	c.1806G>A	c.(1804-1806)CTG>CTA	p.L602L	TCHH_uc009wne.1_Silent_p.L602L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	602	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCGCGCTTCAGTCGCTGCT	0.677		NaN											0	0	0	0.012319	0	11	66				
FLG2	388698	broad.mit.edu	37	1	152328793	152328793	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:152328793G>A	uc001ezw.3	-	3	1542	c.1469C>T	c.(1468-1470)TCT>TTT	p.S490F	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	490	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGACTGACC	0.527		NaN											0	0	0	0.01441	0	100	290				
SPRR2F	6705	broad.mit.edu	37	1	153085095	153085095	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:153085095A>G	uc001fbi.2	-	2	174	c.115T>C	c.(115-117)TCA>CCA	p.S39P	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	39	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.|3.				keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACACTTTGATGGTGGGCAG	0.632		NaN											0	0	0	0.01441	0	70	282				
UBAP2L	9898	broad.mit.edu	37	1	154233401	154233401	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:154233401C>A	uc001fep.3	+	23	2779	c.2612C>A	c.(2611-2613)TCC>TAC	p.S871Y	UBAP2L_uc009wot.2_Missense_Mutation_p.S871Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S863Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S881Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S785Y|UBAP2L_uc001feq.2_Missense_Mutation_p.S67Y|UBAP2L_uc001fer.2_Missense_Mutation_p.S67Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	871					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGATGCCTCCTCCCCAGCC	0.567		NaN											1	0	2.31682e-05	0.003163	2.34717e-05	16	80				
THBS3	7059	broad.mit.edu	37	1	155172609	155172609	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155172609G>A	uc001fix.2	-	8	974	c.951C>T	c.(949-951)ATC>ATT	p.I317I	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.I308I|THBS3_uc001fiz.2_Silent_p.I317I|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.I197I|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	317	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCTCATTGATGTCACTGC	0.612		NaN											0	0	0	0.003755	0	34	96				
PKLR	5313	broad.mit.edu	37	1	155264172	155264172	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155264172C>T	uc001fkb.3	-	7	1009	c.970G>A	c.(970-972)GAT>AAT	p.D324N	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.D293N	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	324					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGATTTCATCAAACCTGAGA	0.562		NaN											0	0	0	0.00499	0	15	51				
ASH1L	55870	broad.mit.edu	37	1	155450350	155450350	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:155450350C>G	uc009wqq.2	-	3	2791	c.2311G>C	c.(2311-2313)GAT>CAT	p.D771H	ASH1L_uc001fkt.2_Missense_Mutation_p.D771H|ASH1L_uc009wqr.1_Missense_Mutation_p.D771H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	771					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTCATGATCTACAAATGAA	0.383		NaN											0	0	0	0.01441	0	53	179				
FCRL5	83416	broad.mit.edu	37	1	157504671	157504671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:157504671G>A	uc001fqu.2	-	8	1572	c.1414C>T	c.(1414-1416)CAT>TAT	p.H472Y	FCRL5_uc009wsm.2_Missense_Mutation_p.H472Y|FCRL5_uc010phv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phw.1_Missense_Mutation_p.H387Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phx.1_Missense_Mutation_p.H223Y	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	472	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGACAGGATGAGACACAGGG	0.493		NaN											0	0	0	0.014323	0	22	59				
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158323802C>G	uc001fse.2	+	1	263	c.24C>G	c.(22-24)TTC>TTG	p.F8L	CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Missense_Mutation_p.F8L|CD1E_uc010pif.1_Missense_Mutation_p.F8L|CD1E_uc001fsd.2_Missense_Mutation_p.F8L|CD1E_uc001fsk.2_Missense_Mutation_p.F8L|CD1E_uc001fsj.2_Missense_Mutation_p.F8L|CD1E_uc001fsc.2_Missense_Mutation_p.F8L|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.F8L|CD1E_uc001fsf.2_Missense_Mutation_p.F8L|CD1E_uc001fry.2_Missense_Mutation_p.F8L|CD1E_uc001fsg.2_Missense_Mutation_p.F8L|CD1E_uc001fsh.2_Missense_Mutation_p.F8L|CD1E_uc001fsi.2_Missense_Mutation_p.F8L|CD1E_uc009wsv.2_Missense_Mutation_p.F8L|CD1E_uc001frz.2_Missense_Mutation_p.F8L|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522		NaN											0	0	0	0.010504	0	17	72				
OR10K2	391107	broad.mit.edu	37	1	158390393	158390393	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158390393C>G	uc010pii.1	-	1	264	c.264G>C	c.(262-264)CAG>CAC	p.Q88H		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TGGTCTTCTTCTGGGACAGCA	0.478		NaN											0	0	0	0.01441	0	60	172				
PYHIN1	149628	broad.mit.edu	37	1	158908911	158908911	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:158908911G>C	uc001ftb.2	+	4	698	c.453G>C	c.(451-453)AGG>AGC	p.R151S	PYHIN1_uc001fta.3_Missense_Mutation_p.R151S|PYHIN1_uc001ftc.2_Missense_Mutation_p.R142S|PYHIN1_uc001ftd.2_Missense_Mutation_p.R151S|PYHIN1_uc001fte.2_Missense_Mutation_p.R142S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	151					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GAACCAAAAGGAGTAAGATGT	0.463		NaN											0	0	0	0.004007	0	16	49				
ITLN2	142683	broad.mit.edu	37	1	160914989	160914989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:160914989C>T	uc001fxd.2	-	8	977	c.919G>A	c.(919-921)GTT>ATT	p.V307I	ITLN2_uc009wts.2_Missense_Mutation_p.V306I|ITLN2_uc010pju.1_Missense_Mutation_p.V224I	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	307					signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCTCTTAACGTGAGTTCCA	0.557		NaN											0	0	0	0.007413	0	18	65				
ADAMTS4	9507	broad.mit.edu	37	1	161166037	161166037	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:161166037G>A	uc001fyt.3	-	3	1442	c.1014C>T	c.(1012-1014)GTC>GTT	p.V338V	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	338	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGGGTCACAGACGGTGCCCA	0.567		NaN											0	0	0	0.00245	0	12	53				
BAT2L2	23215	broad.mit.edu	37	1	171509701	171509701	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171509701G>C	uc010pmg.1	+	16	3356	c.3090G>C	c.(3088-3090)CAG>CAC	p.Q1030H	BAT2L2_uc010pmh.1_Missense_Mutation_p.Q7H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1030	Potential.						protein C-terminus binding				0						AACGGGAACAGAGGAAGGAGA	0.433		NaN											0	0	0	0.008291	0	11	43				
MYOC	4653	broad.mit.edu	37	1	171621260	171621260	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:171621260C>T	uc001ghu.2	-	1	514	c.492G>A	c.(490-492)GAG>GAA	p.E164E	MYOC_uc010pmk.1_Silent_p.E106E	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	164	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCAGATTCTCATTTTCTT	0.562		NaN											0	0	0	0.01441	0	106	414				
ZBTB37	84614	broad.mit.edu	37	1	173839997	173839997	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:173839997C>G	uc009wwp.1	+	3	910	c.634C>G	c.(634-636)CTT>GTT	p.L212V	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.L212V|ZBTB37_uc001gjq.3_Missense_Mutation_p.L212V|ZBTB37_uc001gjr.2_Missense_Mutation_p.L212V	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGCCCATTCTTCGGATCAA	0.532		NaN											0	0	0	0.00245	0	13	67				
TOR1AIP1	26092	broad.mit.edu	37	1	179851926	179851926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:179851926G>A	uc001gnq.2	+	1	507	c.289G>A	c.(289-291)GAG>AAG	p.E97K	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.E97K	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	97	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						TTCTGCGAAAGAGGAAGTGAG	0.597		NaN											0	0	0	0.003755	0	32	77				
XPR1	9213	broad.mit.edu	37	1	180775197	180775197	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775197G>C	uc001goi.2	+	5	640	c.448_splice	c.e5-1	p.N150_splice	XPR1_uc009wxm.2_Splice_Site_p.N150_splice|XPR1_uc009wxn.2_Splice_Site_p.N150_splice	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor							integral to plasma membrane	G-protein coupled receptor activity				0						TCTTTCTGTAGAATCTGAATT	0.398		NaN											0	0	0	0.010729	0	11	32				
XPR1	9213	broad.mit.edu	37	1	180775240	180775240	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:180775240G>C	uc001goi.2	+	5	682	c.490G>C	c.(490-492)GAC>CAC	p.D164H	XPR1_uc009wxm.2_Missense_Mutation_p.D164H|XPR1_uc009wxn.2_Missense_Mutation_p.D164H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	164	SPX.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GAAAAAGCATGACAAGATCCT	0.383		NaN											0	0	0	0.012319	0	20	65				
LAMC2	3918	broad.mit.edu	37	1	183194782	183194782	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:183194782G>A	uc001gqa.2	+	8	1307	c.993G>A	c.(991-993)CTG>CTA	p.L331L	LAMC2_uc001gpz.3_Silent_p.L331L|LAMC2_uc010poa.1_Silent_p.L31L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	331	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GCCCCCAGCTGAGTTACTTTG	0.398		NaN											0	0	0	0.01441	0	47	153				
HMCN1	83872	broad.mit.edu	37	1	185902803	185902803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:185902803G>C	uc001grq.1	+	11	1904	c.1675G>C	c.(1675-1677)GAT>CAT	p.D559H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	559	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAATGACAGAGATGTCAGACT	0.448		NaN											0	0	0	0.014323	0	24	54				
TPR	7175	broad.mit.edu	37	1	186324879	186324879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:186324879G>A	uc001grv.2	-	16	2207	c.1910C>T	c.(1909-1911)TCT>TTT	p.S637F		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	637					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGATGCAAGAGAAACATCATC	0.383		NaN	T	NTRK1	papillary thyroid								0	0	0	0.007291	0	29	102				
RGS2	5997	broad.mit.edu	37	1	192780193	192780193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:192780193C>G	uc001gsl.2	+	4	390	c.357C>G	c.(355-357)TTC>TTG	p.F119L		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	119	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						GTGAAGACTTCAAAAAAACCA	0.398		NaN											0	0	0	0.01441	0	49	117				
PPP1R12B	4660	broad.mit.edu	37	1	202411574	202411574	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:202411574G>A	uc001gya.1	+	12	1686	c.1542_splice	c.e12-1	p.R514_splice	PPP1R12B_uc001gxz.1_Splice_Site_p.R514_splice	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCTTCTACAGAGAATCAGCT	0.443		NaN											0	0	0	0.013537	0	13	43				
MYOG	4656	broad.mit.edu	37	1	203054957	203054957	+	Missense_Mutation	SNP	C	C	T	rs150337281		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203054957C>T	uc001gzd.2	-	1	421	c.133G>A	c.(133-135)GAG>AAG	p.E45K		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						CCTGGGGCCTCGGGGCTCAGG	0.652		NaN											0	0	0	0.004656	0	27	86				
PRELP	5549	broad.mit.edu	37	1	203453266	203453266	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203453266C>G	uc001gzs.2	+	2	1154	c.954C>G	c.(952-954)CTC>CTG	p.L318L	PRELP_uc001gzt.2_Silent_p.L318L	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	318	LRR 10.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTACCTCAACAACAATA	0.562		NaN											0	0	0	0.003163	0	13	55				
ATP2B4	493	broad.mit.edu	37	1	203667370	203667370	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203667370C>G	uc001gzw.2	+	3	1163	c.279C>G	c.(277-279)TTC>TTG	p.F93L	ATP2B4_uc001gzv.2_Missense_Mutation_p.F93L|ATP2B4_uc009xaq.2_Missense_Mutation_p.F93L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	93	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAAGACTTTCTTAGAATTAG	0.502		NaN											0	0	0	0.004656	0	26	83				
ATP2B4	493	broad.mit.edu	37	1	203693027	203693027	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:203693027G>C	uc001gzw.2	+	19	3927	c.3043G>C	c.(3043-3045)GGG>CGG	p.G1015R	ATP2B4_uc001gzv.2_Missense_Mutation_p.G1015R|ATP2B4_uc009xaq.2_Missense_Mutation_p.G1015R|ATP2B4_uc001gzx.2_Missense_Mutation_p.G46R|ATP2B4_uc009xar.2_Intron	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1015	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTGGAATTTGGGGGTAAACC	0.542		NaN											0	0	0	0.004656	0	24	65				
PPP1R15B	84919	broad.mit.edu	37	1	204379015	204379015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379015C>G	uc001hav.3	-	1	1930	c.1525G>C	c.(1525-1527)GAT>CAT	p.D509H		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	509					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTCTCTGAATCAGAAGGCTCT	0.463		NaN											0	0	0	0.00278	0	25	77				
PPP1R15B	84919	broad.mit.edu	37	1	204379192	204379192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379192C>T	uc001hav.3	-	1	1753	c.1348G>A	c.(1348-1350)GAG>AAG	p.E450K		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	450					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCAGCTTCCTCATCCCAATCC	0.458		NaN											0	0	0	0.01441	0	48	218				
PPP1R15B	84919	broad.mit.edu	37	1	204379760	204379760	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:204379760C>A	uc001hav.3	-	1	1185	c.780G>T	c.(778-780)CTG>CTT	p.L260L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	260					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGTCCTCTCTCAGGCAGCTGC	0.542		NaN											1	0	6.03168e-27	0.004878	6.28921e-27	35	138				
LOC642587	642587	broad.mit.edu	37	1	209605571	209605571	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:209605571G>C	uc009xcn.2	+	4	569	c.186G>C	c.(184-186)AGG>AGC	p.R62S	LOC642587_uc010psk.1_RNA|MIR205_hsa-mir-205|MI0000285_RNA	NM_001104548	NP_001098018			hypothetical protein LOC642587												0				OV - Ovarian serous cystadenocarcinoma(81;0.0422)		TGAAGTTCAGGAGGCATGGAG	0.299		NaN											0	0	0	0.001168	0	6	32				
SERTAD4	56256	broad.mit.edu	37	1	210411352	210411352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:210411352C>T	uc001hhy.2	+	2	226	c.47C>T	c.(46-48)TCG>TTG	p.S16L	SERTAD4_uc009xcw.2_Missense_Mutation_p.S16L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	16							protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCCATTGTCTCGGAAGGAGCT	0.488		NaN											0	0	0	0.005524	0	33	124				
FLVCR1	28982	broad.mit.edu	37	1	213032118	213032118	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:213032118C>A	uc001hjt.2	+	1	522	c.324C>A	c.(322-324)TTC>TTA	p.F108L	LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular	108	Helical; (Potential).				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CGCGGCGCTTCGTGGTGCTCC	0.657		NaN											1	0	2.31682e-05	0.003163	2.34717e-05	14	27				
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:215256745C>G	uc001hkq.2	+	1	186	c.17C>G	c.(16-18)TCG>TGG	p.S6W	KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	6	Cytoplasmic (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCCAGCGCCTCGCGGGAGAGA	0.547		NaN											0	0	0	0.00632	0	25	90				
EPRS	2058	broad.mit.edu	37	1	220213549	220213549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:220213549C>G	uc001hly.1	-	2	379	c.109G>C	c.(109-111)GAG>CAG	p.E37Q	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.E37Q|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	37					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGAATATTCTCTTTCCCTTCT	0.269		NaN											0	0	0	0.00333	0	20	130				
HLX	3142	broad.mit.edu	37	1	221053221	221053221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:221053221C>T	uc001hmv.3	+	1	479	c.22C>T	c.(22-24)CCC>TCC	p.P8S		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	8					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CGGGCTGGCTCCCTTCTACGC	0.731		NaN											0	0	0	0.000602	0	5	9				
C1orf55	163859	broad.mit.edu	37	1	226180638	226180638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:226180638G>A	uc001hpu.3	-	3	357	c.304C>T	c.(304-306)CGG>TGG	p.R102W	C1orf55_uc001hpv.2_Missense_Mutation_p.R102W	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	102										lung(1)	1	Breast(184;0.197)					CTGAGATCCCGACAAGCTTCT	0.423		NaN											0	0	0	0.005524	0	31	68				
CDC42BPA	8476	broad.mit.edu	37	1	227261667	227261667	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:227261667G>C	uc001hqr.2	-	19	3576	c.2633C>G	c.(2632-2634)GCT>GGT	p.A878G	CDC42BPA_uc001hqq.2_Missense_Mutation_p.A142G|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A797G|CDC42BPA_uc009xes.2_Missense_Mutation_p.A878G|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A878G|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A34G|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A34G	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	878					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCAGTCTAGCTGACATATC	0.368		NaN											0	0	0	0.01441	0	52	154				
ARID4B	51742	broad.mit.edu	37	1	235357527	235357527	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:235357527C>G	uc001hwq.2	-	19	2425	c.1927_splice	c.e19-1	p.N643_splice	ARID4B_uc001hwr.2_Splice_Site_p.N557_splice|ARID4B_uc001hws.3_Splice_Site_p.N557_splice|ARID4B_uc001hwp.2_Splice_Site|ARID4B_uc001hwt.3_Splice_Site_p.N324_splice	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTAATTTATTCTAGGTTAAGA	0.303		NaN											0	0	0	0.006214	0	10	42				
RYR2	6262	broad.mit.edu	37	1	237774219	237774219	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:237774219G>A	uc001hyl.1	+	36	4961	c.4841G>A	c.(4840-4842)CGC>CAC	p.R1614H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1614	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATAAGTGAACGCCAAGGCTGG	0.527		NaN											0	0	0	0.00308	0	8	25				
WDR64	128025	broad.mit.edu	37	1	241964444	241964444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:241964444G>C	uc001hzf.1	+	17	1985	c.1832G>C	c.(1831-1833)AGA>ACA	p.R611T	WDR64_uc001hzg.1_Missense_Mutation_p.R524T	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1058										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCACCACGAAGAAGAAGTTTG	0.378		NaN											0	0	0	0.012319	0	22	70				
CEP170	9859	broad.mit.edu	37	1	243328908	243328908	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr1:243328908G>C	uc001hzs.2	-	13	2762	c.2354C>G	c.(2353-2355)TCA>TGA	p.S785*	CEP170_uc001hzt.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzu.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzv.1_Nonsense_Mutation_p.S163*	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	785						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGGAGGTTGTGATTCTTGTTT	0.398		NaN											0	0	0	0.007413	0	17	133				
DIP2C	22982	broad.mit.edu	37	10	395346	395346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:395346C>G	uc001ifp.2	-	25	3124	c.3034G>C	c.(3034-3036)GAG>CAG	p.E1012Q	DIP2C_uc009xhi.1_Missense_Mutation_p.E398Q	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1012						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGATCTTCTCAGCTCTCTTG	0.622		NaN											0	0	0	0.012319	0	22	83				
RBM17	84991	broad.mit.edu	37	10	6143281	6143281	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:6143281G>A	uc001ijb.2	+	3	397	c.171G>A	c.(169-171)CTG>CTA	p.L57L	RBM17_uc010qav.1_Silent_p.L57L	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	57					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						TCATTGACCTGAAGCGAGGTG	0.483		NaN											0	0	0	0.004482	0	9	49				
UPF2	26019	broad.mit.edu	37	10	11994206	11994206	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:11994206C>G	uc001ila.2	-	14	3367	c.2893G>C	c.(2893-2895)GAC>CAC	p.D965H	UPF2_uc001ilb.2_Missense_Mutation_p.D965H|UPF2_uc001ilc.2_Missense_Mutation_p.D965H|UPF2_uc009xiz.1_Missense_Mutation_p.D965H	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	965	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				AATGGATGGTCTTTTGTCCAA	0.308		NaN											0	0	0	0.012319	0	23	80				
MSRB2	22921	broad.mit.edu	37	10	23408326	23408326	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:23408326G>A	uc001iro.2	+	4	501	c.390G>A	c.(388-390)CTG>CTA	p.L130L		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2 precursor	130					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)	CAGGGATCCTGAGACGTCTGG	0.512		NaN											0	0	0	0.00278	0	25	94				
ANKRD26	22852	broad.mit.edu	37	10	27323766	27323766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323766C>G	uc001ith.2	-	24	3782	c.3610G>C	c.(3610-3612)GAA>CAA	p.E1204Q	ANKRD26_uc001itg.2_Missense_Mutation_p.E891Q|ANKRD26_uc009xku.1_Missense_Mutation_p.E1205Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1204	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TACTGTCTTTCTTTTAAGTGA	0.289		NaN											0	0	0	0.003954	0	27	67				
ANKRD26	22852	broad.mit.edu	37	10	27323874	27323874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:27323874C>T	uc001ith.2	-	24	3674	c.3502G>A	c.(3502-3504)GAC>AAC	p.D1168N	ANKRD26_uc001itg.2_Missense_Mutation_p.D855N|ANKRD26_uc009xku.1_Missense_Mutation_p.D1169N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1168	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TGAAACTGGTCTTGGATATTA	0.368		NaN											0	0	0	0.01441	0	59	203				
ARMC4	55130	broad.mit.edu	37	10	28151455	28151455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:28151455C>T	uc009xky.2	-	18	2805	c.2707G>A	c.(2707-2709)GCT>ACT	p.A903T	ARMC4_uc010qds.1_Missense_Mutation_p.A428T|ARMC4_uc010qdt.1_Missense_Mutation_p.A595T|ARMC4_uc001itz.2_Missense_Mutation_p.A903T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	903	ARM 7.						binding			ovary(4)|skin(2)	6						GTAATGGCAGCACATACACTT	0.373		NaN											0	0	0	0.005443	0	29	96				
ITGB1	3688	broad.mit.edu	37	10	33200926	33200926	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33200926G>A	uc001iws.3	-	12	1732	c.1596C>T	c.(1594-1596)GTC>GTT	p.V532V	ITGB1_uc001iwp.3_Silent_p.V532V|ITGB1_uc001iwq.3_Silent_p.V532V|ITGB1_uc001iwr.3_Silent_p.V532V|ITGB1_uc001iwt.3_Silent_p.V532V|ITGB1_uc001iwu.1_Silent_p.V532V	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	532	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACTGTCCGCAGACGCACTCTC	0.398		NaN											0	0	0	0.01441	0	48	129				
ITGB1	3688	broad.mit.edu	37	10	33224454	33224454	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:33224454C>T	uc001iws.3	-	2	169	c.33G>A	c.(31-33)CTG>CTA	p.L11L	ITGB1_uc001iwp.3_Silent_p.L11L|ITGB1_uc001iwq.3_Silent_p.L11L|ITGB1_uc001iwr.3_Silent_p.L11L|ITGB1_uc001iwt.3_Silent_p.L11L|ITGB1_uc001iwu.1_Silent_p.L11L	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	11					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGAACTGATCAGTCCAATCC	0.294		NaN											0	0	0	0.013537	0	10	60				
PHYHIPL	84457	broad.mit.edu	37	10	61005268	61005268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:61005268G>A	uc001jkk.3	+	5	1314	c.1048G>A	c.(1048-1050)GGT>AGT	p.G350S	PHYHIPL_uc001jkl.3_Missense_Mutation_p.G304S|PHYHIPL_uc001jkm.3_Missense_Mutation_p.G324S	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	350											0						AGAAATCACTGGTCATCAGCT	0.448		NaN											0	0	0	0.007835	0	41	96				
RTKN2	219790	broad.mit.edu	37	10	63977986	63977986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:63977986C>T	uc001jlw.2	-	8	953	c.856G>A	c.(856-858)GAG>AAG	p.E286K	RTKN2_uc009xpf.1_Missense_Mutation_p.E67K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	286	PH.				signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					AATGCATCCTCAGCCATACAA	0.393		NaN											0	0	0	0.013537	0	13	78				
ZNF365	22891	broad.mit.edu	37	10	64415153	64415153	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:64415153G>A	uc001jmd.1	+	4	487	c.153G>A	c.(151-153)ATG>ATA	p.M51I	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	51										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCCACTGATGAAACAGGCTC	0.468		NaN											0	0	0	0.00245	0	11	40				
PRF1	5551	broad.mit.edu	37	10	72360406	72360406	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:72360406G>C	uc009xqg.2	-	2	414	c.253C>G	c.(253-255)CTC>GTC	p.L85V	PRF1_uc001jrf.3_Missense_Mutation_p.L85V	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	85	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AGGCGCTGGAGGGTGCCCTCC	0.667		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.001168	0	3	28				
SLC29A3	55315	broad.mit.edu	37	10	73122191	73122191	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:73122191C>T	uc001jrr.3	+	6	1311	c.1254C>T	c.(1252-1254)CTC>CTT	p.L418L	SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L272L|SLC29A3_uc001jrt.3_Silent_p.L212L|SLC29A3_uc001jru.3_Silent_p.L230L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	418	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CCGCACTCCTCAGCTCCCTGC	0.642		NaN											0	0	0	0.00623	0	35	111				
CAMK2G	818	broad.mit.edu	37	10	75574801	75574801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574801G>A	uc001jvm.1	-	20	1762	c.1643C>T	c.(1642-1644)TCA>TTA	p.S548L	CAMK2G_uc001jvo.1_Missense_Mutation_p.S519L|CAMK2G_uc001jvq.1_Missense_Mutation_p.S496L|CAMK2G_uc001jvr.1_Missense_Mutation_p.S487L|CAMK2G_uc001jvp.1_Missense_Mutation_p.S510L|CAMK2G_uc001jvs.1_Missense_Mutation_p.S531L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.S488L|CAMK2G_uc009xrp.1_Missense_Mutation_p.S137L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	550					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					AGGGGCCCCTGAGCAGTGATA	0.657		NaN											0	0	0	0.010729	0	10	19				
CAMK2G	818	broad.mit.edu	37	10	75574821	75574821	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:75574821G>C	uc001jvm.1	-	20	1742	c.1623C>G	c.(1621-1623)CTC>CTG	p.L541L	CAMK2G_uc001jvo.1_Silent_p.L512L|CAMK2G_uc001jvq.1_Silent_p.L489L|CAMK2G_uc001jvr.1_Silent_p.L480L|CAMK2G_uc001jvp.1_Silent_p.L503L|CAMK2G_uc001jvs.1_Silent_p.L524L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.L481L|CAMK2G_uc009xrp.1_Silent_p.L130L	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	543					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					AGTGGACATTGAGCCACTTGC	0.662		NaN											0	0	0	0.00245	0	13	27				
LRIT2	340745	broad.mit.edu	37	10	85984808	85984808	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:85984808T>G	uc001kcy.2	-	2	181	c.173A>C	c.(172-174)AAG>ACG	p.K58T	LRIT2_uc010qmc.1_Missense_Mutation_p.K58T	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	58						integral to membrane				ovary(2)	2						TCTCACTTGCTTGAACTCTTC	0.418		NaN											0	0	0	0.010818	0	30	126				
TNKS2	80351	broad.mit.edu	37	10	93572839	93572839	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:93572839C>G	uc001khp.2	+	2	596	c.299C>G	c.(298-300)TCT>TGT	p.S100C		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	100	ANK 2.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				AATGCATGCTCTTTTGGTCAT	0.443		NaN											0	0	0	0.003954	0	26	116				
KIF11	3832	broad.mit.edu	37	10	94405256	94405256	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:94405256G>A	uc001kic.2	+	18	2712	c.2404G>A	c.(2404-2406)GAT>AAT	p.D802N	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	802					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						GAAACACTCTGATAAACTCAA	0.363		NaN											0	0	0	0.006122	0	17	84				
CYP2C19	1557	broad.mit.edu	37	10	96540313	96540313	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:96540313C>T	uc010qnz.1	+	4	539	c.539C>T	c.(538-540)TCC>TTC	p.S180F	CYP2C19_uc009xus.1_Missense_Mutation_p.S45F|CYP2C19_uc010qny.1_Missense_Mutation_p.S158F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	180					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTGATCTGCTCCATTATTTTC	0.373		NaN											0	0	0	0.01441	0	57	184				
LCOR	84458	broad.mit.edu	37	10	98715053	98715053	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:98715053G>A	uc001kms.1	+	8	1197	c.676G>A	c.(676-678)GAA>AAA	p.E226K	LCOR_uc001kmr.2_Missense_Mutation_p.E226K|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E226K|LCOR_uc001kmu.1_Missense_Mutation_p.E226K	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	226						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTTTCTTGCAGAAAACTCTGC	0.433		NaN											0	0	0	0.00278	0	23	69				
ZFYVE27	118813	broad.mit.edu	37	10	99519006	99519006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:99519006G>C	uc001koo.2	+	13	1385	c.1185G>C	c.(1183-1185)CAG>CAC	p.Q395H	ZFYVE27_uc001kon.2_Missense_Mutation_p.Q400H|ZFYVE27_uc001koq.2_Missense_Mutation_p.Q302H|ZFYVE27_uc010qpa.1_Missense_Mutation_p.Q270H|ZFYVE27_uc001kop.2_Missense_Mutation_p.Q388H|ZFYVE27_uc010qpb.1_Missense_Mutation_p.Q295H|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.Q356H|ZFYVE27_uc001kol.1_Missense_Mutation_p.Q395H|ZFYVE27_uc001kom.1_Missense_Mutation_p.Q388H	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	395	Extracellular (Potential).|FYVE-type.				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CTGAAGCCCAGAGGGAGACTG	0.557		NaN									OREG0020422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	85				
FGF8	2253	broad.mit.edu	37	10	103531253	103531253	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:103531253G>C	uc001ktp.1	-	5	548	c.378C>G	c.(376-378)ATC>ATG	p.I126M	FGF8_uc001ktq.1_Missense_Mutation_p.I137M|FGF8_uc001ktr.1_Missense_Mutation_p.I108M|FGF8_uc001kts.1_Missense_Mutation_p.I97M|FGF8_uc009xwr.1_Missense_Mutation_p.I33M	NM_033164	NP_149354	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform E precursor	126					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TGTTCATGCAGATGTAGAGGC	0.607		NaN											0	0	0	0.00499	0	15	69				
NT5C2	22978	broad.mit.edu	37	10	104857052	104857052	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:104857052G>A	uc001kwo.2	-	11	953	c.767C>T	c.(766-768)ACA>ATA	p.T256I	NT5C2_uc010qqp.1_Missense_Mutation_p.T227I|NT5C2_uc001kwq.2_Missense_Mutation_p.T256I|NT5C2_uc001kwp.2_Missense_Mutation_p.T103I	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	256					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTTACATCTGTATATTTATA	0.348		NaN											0	0	0	0.007413	0	19	99				
C10orf79	80217	broad.mit.edu	37	10	105903397	105903397	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:105903397C>T	uc001kxw.2	-	32	4061	c.3945G>A	c.(3943-3945)AGG>AGA	p.R1315R	C10orf79_uc009xxq.2_Silent_p.R594R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1315											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		GTTTGGAAATCCTGGTATTAC	0.418		NaN											0	0	0	0.004672	0	3	27				
TDRD1	56165	broad.mit.edu	37	10	115985891	115985891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:115985891G>A	uc001lbg.1	+	22	3244	c.3091G>A	c.(3091-3093)GAA>AAA	p.E1031K	TDRD1_uc001lbf.2_Missense_Mutation_p.E908K|TDRD1_uc001lbh.1_Missense_Mutation_p.E1018K|TDRD1_uc001lbi.1_Missense_Mutation_p.E1022K|TDRD1_uc010qsc.1_Missense_Mutation_p.E635K|TDRD1_uc001lbj.2_Missense_Mutation_p.E740K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1031	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGAAACATTGAAACCCTGCC	0.438		NaN											0	0	0	0.008361	0	28	67				
TRUB1	142940	broad.mit.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	A	rs143607039		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:116702491G>A	uc001lcd.2	+	2	435	c.374G>A	c.(373-375)CGA>CAA	p.R125Q	TRUB1_uc010qsl.1_Missense_Mutation_p.R27Q	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	125					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGCGCAGCCCGAGGAGTTCTG	0.438		NaN											0	0	0	0.003163	0	13	52				
EIF3A	8661	broad.mit.edu	37	10	120809348	120809348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:120809348C>G	uc001ldu.2	-	17	2769	c.2623G>C	c.(2623-2625)GAG>CAG	p.E875Q	EIF3A_uc010qsu.1_Missense_Mutation_p.E841Q|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	875	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGTCTTCTCTCTTCCTCTCTA	0.358		NaN											0	0	0	0.01441	0	81	227				
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	C	T	rs142005373		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124152833C>T	uc001lge.1	+	2	240	c.117C>T	c.(115-117)TTC>TTT	p.F39F	PLEKHA1_uc001lgf.1_Silent_p.F39F|PLEKHA1_uc001lgg.1_Silent_p.F39F|PLEKHA1_uc001lgh.2_Silent_p.F39F	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	39	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343		NaN											0	0	0	0.014323	0	22	73				
DMBT1	1755	broad.mit.edu	37	10	124358515	124358515	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358515G>T	uc001lgk.1	+	26	3288	c.3182G>T	c.(3181-3183)CGC>CTC	p.R1061L	DMBT1_uc001lgl.1_Missense_Mutation_p.R1051L|DMBT1_uc001lgm.1_Missense_Mutation_p.R562L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1061	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.592		NaN											1	0	1.51926e-22	0.01441	1.57703e-22	51	151				
DMBT1	1755	broad.mit.edu	37	10	124358521	124358521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:124358521C>G	uc001lgk.1	+	26	3294	c.3188C>G	c.(3187-3189)TCA>TGA	p.S1063*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.S1053*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.S564*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.S1063*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.S24*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1063	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGCTGCTCAGGACACGAG	0.607		NaN											0	0	0	0.007835	0	43	146				
C10orf137	26098	broad.mit.edu	37	10	127429114	127429114	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:127429114G>A	uc001liq.1	+	16	2357	c.2064G>A	c.(2062-2064)CTG>CTA	p.L688L	C10orf137_uc001lin.2_Silent_p.L654L|C10orf137_uc001lio.1_Silent_p.L654L|C10orf137_uc001lip.1_Silent_p.L392L|C10orf137_uc001lir.2_Silent_p.L182L|C10orf137_uc001lis.1_Silent_p.L14L	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTTCAGCTGATTCTCAAGT	0.413		NaN											0	0	0	0.008871	0	21	92				
LRDD	55367	broad.mit.edu	37	11	804358	804358	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:804358C>G	uc001lro.1	-	2	173	c.31G>C	c.(31-33)GAG>CAG	p.E11Q	LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Missense_Mutation_p.E11Q|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	11					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCTGCCTCCAGCTCTGGC	0.687		NaN											0	0	0	0.001855	0	8	22				
IGF2	3481	broad.mit.edu	37	11	2154279	2154279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:2154279G>C	uc009yde.2	-	4	584	c.481C>G	c.(481-483)CTA>GTA	p.L161V	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.L161V|IGF2_uc009ydf.2_Missense_Mutation_p.L217V|IGF2_uc001lvh.2_Missense_Mutation_p.L161V|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	161					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGGTGGGTAGAGCAATCAGG	0.692		NaN											0	0	0	0.005443	0	25	98				
OR10A5	144124	broad.mit.edu	37	11	6867346	6867346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:6867346C>G	uc001met.1	+	1	433	c.433C>G	c.(433-435)CTG>GTG	p.L145V		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGGGCCAAACTGGCTGCTGC	0.527		NaN											0	0	0	0.01441	0	34	174				
NLRP10	338322	broad.mit.edu	37	11	7981789	7981789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:7981789G>A	uc001mfv.1	-	2	1387	c.1370C>T	c.(1369-1371)GCC>GTC	p.A457V		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	457	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTTGATGGCAAGTCCCAA	0.493		NaN											0	0	0	0.010771	0	43	170				
USP47	55031	broad.mit.edu	37	11	11942014	11942014	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:11942014G>A	uc001mjq.1	+	11	2014	c.1251G>A	c.(1249-1251)ATG>ATA	p.M417I	USP47_uc001mjr.2_Missense_Mutation_p.M329I|USP47_uc001mjs.2_Missense_Mutation_p.M397I	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	417					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AACTAGATATGAGTACTTTTA	0.318		NaN											0	0	0	0.013726	0	32	86				
ZNF408	79797	broad.mit.edu	37	11	46727044	46727044	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:46727044C>G	uc001nde.1	+	5	2024	c.1794C>G	c.(1792-1794)CTC>CTG	p.L598L	ZNF408_uc010rgw.1_Silent_p.L590L	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	598	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GGCGCCACCTCAAATCTCACT	0.667		NaN											0	0	0	0.00499	0	18	50				
FNBP4	23360	broad.mit.edu	37	11	47752962	47752962	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47752962C>G	uc009ylv.2	-	12	2125	c.1972G>C	c.(1972-1974)GAT>CAT	p.D658H	FNBP4_uc001ngj.2_Missense_Mutation_p.D565H|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	658										ovary(1)	1						GAATTTGAATCAGTGCCAGTT	0.373		NaN											0	0	0	0.01441	0	51	136				
FNBP4	23360	broad.mit.edu	37	11	47753046	47753046	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47753046C>T	uc009ylv.2	-	12	2041	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	FNBP4_uc001ngj.2_Missense_Mutation_p.E537K|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	630	Poly-Glu.									ovary(1)	1						TCTTCCTCTTCACCATCTGGA	0.393		NaN											0	0	0	0.013114	0	46	163				
NUP160	23279	broad.mit.edu	37	11	47858484	47858484	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:47858484G>A	uc001ngm.2	-	6	982	c.897C>T	c.(895-897)ATC>ATT	p.I299I	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	299					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						ACAAAGCAAAGATGAAGGCAT	0.408		NaN											0	0	0	0.006122	0	19	95				
OR5L2	26338	broad.mit.edu	37	11	55594852	55594852	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:55594852C>T	uc001nhy.1	+	1	158	c.158C>T	c.(157-159)TCT>TTT	p.S53F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CAGGTCAGCTCTCGGCTCCAC	0.478		NaN								HNSCC(27;0.073)			0	0	0	0.01441	0	99	289				
OR5AK2	390181	broad.mit.edu	37	11	56757051	56757051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:56757051C>T	uc010rjp.1	+	1	663	c.663C>T	c.(661-663)ATC>ATT	p.I221I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						ACATCTACATCATGGCCACCA	0.438		NaN											0	0	0	0.01441	0	53	196				
PRG2	5553	broad.mit.edu	37	11	57156683	57156683	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:57156683C>T	uc001njz.2	-	2	193	c.166G>A	c.(166-168)GAA>AAA	p.E56K	PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.E56K|PRG2_uc001nkb.2_Missense_Mutation_p.E56K|PRG2_uc001nkd.2_Missense_Mutation_p.E56K|PRG2_uc001nkc.2_Missense_Mutation_p.E56K|PRG2_uc001nke.2_Missense_Mutation_p.E336K	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	56					defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	TCCTCCTCTTCCTCCAGCTCC	0.547		NaN											0	0	0	0.003954	0	27	82				
GLYATL1	92292	broad.mit.edu	37	11	58723268	58723268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:58723268C>T	uc001nnf.2	+	8	1053	c.677C>T	c.(676-678)TCT>TTT	p.S226F	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.S257F|GLYATL1_uc001nni.1_Missense_Mutation_p.S226F|GLYATL1_uc001nnj.1_Missense_Mutation_p.S226F			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	226						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	ATGGACCCTTCTTGTGAAGTA	0.517		NaN											0	0	0	0.008871	0	20	44				
CCDC86	79080	broad.mit.edu	37	11	60610305	60610305	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:60610305G>A	uc001nqa.2	+	1	877	c.708G>A	c.(706-708)CCG>CCA	p.P236P	CCDC86_uc001nqb.2_5'UTR	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	236					interspecies interaction between organisms	nucleus					0						CTGTAATCCCGAAGGGGAAGC	0.567		NaN											0	0	0	0.008291	0	9	35				
FADS3	3995	broad.mit.edu	37	11	61644427	61644427	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:61644427G>C	uc001nsm.2	-	8	1047	c.894C>G	c.(892-894)CTC>CTG	p.L298L	FADS3_uc001nsn.2_Silent_p.L174L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	298	Lumenal (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						TGGCGGCCCAGAGCAAATCCT	0.557		NaN											0	0	0	0.004672	0	3	10				
AHNAK	79026	broad.mit.edu	37	11	62288785	62288785	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62288785G>C	uc001ntl.2	-	5	13404	c.13104C>G	c.(13102-13104)CTC>CTG	p.L4368L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4368					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTGGACCCTTGAGTTTTGCAT	0.468		NaN											0	0	0	0.01441	0	55	202				
B3GAT3	26229	broad.mit.edu	37	11	62384199	62384199	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:62384199G>C	uc001ntw.2	-	4	717	c.688C>G	c.(688-690)CAG>GAG	p.Q230E	B3GAT3_uc009ynz.2_Missense_Mutation_p.Q223E|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.Q230E	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	230	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						TCCTGTACCTGAGGGCCCTCG	0.647		NaN											0	0	0	0.00308	0	7	21				
MAP4K2	5871	broad.mit.edu	37	11	64564578	64564578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:64564578C>T	uc001obh.2	-	19	1455	c.1363G>A	c.(1363-1365)GAG>AAG	p.E455K	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.E447K	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	455					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CCTCTTACCTCAGGATCCTCC	0.657		NaN											0	0	0	0.008291	0	9	62				
FAM89B	23625	broad.mit.edu	37	11	65340999	65340999	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65340999G>A	uc001oem.2	+	2	739	c.418G>A	c.(418-420)GAC>AAC	p.D140N	FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.D153N|EHBP1L1_uc001oeo.3_5'Flank	NM_152832	NP_690045	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	140											0						CCTGTCTGACGACGAGGAGCC	0.632		NaN											0	0	0	0.012319	0	18	49				
FAM89B	23625	broad.mit.edu	37	11	65341111	65341111	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65341111G>A	uc001oem.2	+	2	851	c.530G>A	c.(529-531)TGA>TAA	p.*177*	FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Silent_p.*190*|EHBP1L1_uc001oeo.3_5'Flank	NM_152832	NP_690045	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	177											0						ATCAGCCTCTGAAGGGCTGGG	0.662		NaN											0	0	0	0.010729	0	6	45				
PACS1	55690	broad.mit.edu	37	11	65983668	65983668	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:65983668G>C	uc001oha.1	+	5	873	c.739G>C	c.(739-741)GAA>CAA	p.E247Q	PACS1_uc001ogz.1_Missense_Mutation_p.E247Q	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	247					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GCCTGTGGCAGAAATAAAGAT	0.517		NaN											0	0	0	0.003954	0	24	69				
SPTBN2	6712	broad.mit.edu	37	11	66460711	66460711	+	Silent	SNP	C	C	T	rs146007976	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:66460711C>T	uc001ojd.2	-	23	4872	c.4800G>A	c.(4798-4800)GCG>GCA	p.A1600A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCCAGGCCTCCGCCTCGGCGG	0.622		NaN											0	0	0	0.013726	0	34	101				
CLCF1	23529	broad.mit.edu	37	11	67133035	67133035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67133035G>C	uc001okq.2	-	3	446	c.250C>G	c.(250-252)CTG>GTG	p.L84V	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.L74V	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	84					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			GCCCTGGGCAGAGTCTCTGCC	0.587		NaN											0	0	0	0.013726	0	33	112				
PPP1CA	5499	broad.mit.edu	37	11	67166318	67166318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166318C>T	uc001okw.1	-	6	880	c.757G>A	c.(757-759)GAC>AAC	p.D253N	PPP1CA_uc009yro.1_Missense_Mutation_p.D71N|PPP1CA_uc001okt.1_Missense_Mutation_p.D258N|PPP1CA_uc001oku.1_Missense_Mutation_p.D264N|PPP1CA_uc001okv.1_Missense_Mutation_p.D209N|PPP1CA_uc001okx.1_Missense_Mutation_p.D341N|PPP1CA_uc001oky.2_Missense_Mutation_p.D253N	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	253					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCGTAGCCGTCTTCTACCACC	0.627		NaN											0	0	0	0.00623	0	33	84				
PPP1CA	5499	broad.mit.edu	37	11	67166321	67166321	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166321C>T	uc001okw.1	-	6	877	c.754G>A	c.(754-756)GAA>AAA	p.E252K	PPP1CA_uc009yro.1_Missense_Mutation_p.E70K|PPP1CA_uc001okt.1_Missense_Mutation_p.E257K|PPP1CA_uc001oku.1_Missense_Mutation_p.E263K|PPP1CA_uc001okv.1_Missense_Mutation_p.E208K|PPP1CA_uc001okx.1_Missense_Mutation_p.E340K|PPP1CA_uc001oky.2_Missense_Mutation_p.E252K	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	252					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TAGCCGTCTTCTACCACCTGG	0.627		NaN											0	0	0	0.00623	0	34	85				
PPP1CA	5499	broad.mit.edu	37	11	67166578	67166578	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67166578C>T	uc001okw.1	-	5	703	c.580G>A	c.(580-582)GAT>AAT	p.D194N	PPP1CA_uc009yro.1_Missense_Mutation_p.D12N|PPP1CA_uc001okt.1_Missense_Mutation_p.D199N|PPP1CA_uc001oku.1_Missense_Mutation_p.D205N|PPP1CA_uc001okv.1_Missense_Mutation_p.D150N|PPP1CA_uc001okx.1_Missense_Mutation_p.D282N|PPP1CA_uc001oky.2_Missense_Mutation_p.D194N	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	194					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCAGGCACATCTGTGGGCCGC	0.622		NaN											0	0	0	0.005443	0	26	79				
TBC1D10C	374403	broad.mit.edu	37	11	67172956	67172956	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67172956G>A	uc001ola.2	+	4	368	c.339G>A	c.(337-339)AAG>AAA	p.K113K	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Silent_p.K113K|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	113	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGCCAGAAGAACAGCCCTG	0.647		NaN											0	0	0	0.006122	0	17	53				
ALDH3B1	221	broad.mit.edu	37	11	67787235	67787235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:67787235G>C	uc010rpy.1	+	7	648	c.532G>C	c.(532-534)GAG>CAG	p.E178Q	ALDH3B1_uc001omz.2_Missense_Mutation_p.E178Q|ALDH3B1_uc001ona.2_Missense_Mutation_p.E141Q|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	178					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	GCAGCTGCTAGAGCACAGGTT	0.652		NaN											0	0	0	0.010818	0	25	100				
FADD	8772	broad.mit.edu	37	11	70049613	70049613	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049613G>A	uc001opm.2	+	1	345	c.48G>A	c.(46-48)TCG>TCA	p.S16S		NM_003824	NP_003815	Q13158	FADD_HUMAN	Fas-associated via death domain	16	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			ovary(1)|lung(1)|pancreas(1)	3	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCAGCCTGTCGAGCAGCGAGC	0.697		NaN											0	0	0	0.009096	0	4	14				
FADD	8772	broad.mit.edu	37	11	70049620	70049620	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:70049620G>A	uc001opm.2	+	1	352	c.55G>A	c.(55-57)GAG>AAG	p.E19K		NM_003824	NP_003815	Q13158	FADD_HUMAN	Fas-associated via death domain	19	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			ovary(1)|lung(1)|pancreas(1)	3	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTCGAGCAGCGAGCTGACCGA	0.692		NaN											0	0	0	0.000602	0	5	15				
C11orf82	220042	broad.mit.edu	37	11	82643575	82643575	+	Missense_Mutation	SNP	G	G	C	rs149497860		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:82643575G>C	uc001ozt.2	+	6	1439	c.1195G>C	c.(1195-1197)GAA>CAA	p.E399Q	C11orf82_uc010rsr.1_Missense_Mutation_p.E98Q|C11orf82_uc010rss.1_Missense_Mutation_p.E98Q|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	399					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ACTCAGACTTGAAGAGACAGC	0.468		NaN											0	0	0	0.01441	0	70	221				
ME3	10873	broad.mit.edu	37	11	86160971	86160971	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:86160971C>T	uc001pbz.2	-	9	1345	c.1091G>A	c.(1090-1092)AGA>AAA	p.R364K	ME3_uc001pca.2_Missense_Mutation_p.R364K|ME3_uc009yvk.2_Missense_Mutation_p.R364K|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	364					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCAGATCTTTCTTGTGGCCTC	0.522		NaN											0	0	0	0.01441	0	48	145				
PIWIL4	143689	broad.mit.edu	37	11	94335120	94335120	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:94335120G>A	uc001pfa.2	+	12	1751	c.1540G>A	c.(1540-1542)GGA>AGA	p.G514R	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	514					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTTCCATGGGATTTAATGT	0.378		NaN											0	0	0	0.00632	0	28	119				
YAP1	10413	broad.mit.edu	37	11	102100669	102100669	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:102100669T>C	uc001pgt.2	+	9	1883	c.1513T>C	c.(1513-1515)TAG>CAG	p.*505Q	YAP1_uc001pgs.2_Nonstop_Mutation_p.*455Q|YAP1_uc001pgu.2_Nonstop_Mutation_p.*489Q|YAP1_uc001pgv.2_Nonstop_Mutation_p.*451Q|YAP1_uc010ruo.1_Nonstop_Mutation_p.*327Q|YAP1_uc001pgw.2_Nonstop_Mutation_p.*329Q|YAP1_uc010rup.1_Nonstop_Mutation_p.*270Q	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	505					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TACATGGTTATAGAGCCCTCA	0.433		NaN											0	0	0	0.01441	0	53	116				
GRIA4	2893	broad.mit.edu	37	11	105789548	105789548	+	Missense_Mutation	SNP	C	C	G	rs145685023		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:105789548C>G	uc001pix.2	+	11	1826	c.1380C>G	c.(1378-1380)ATC>ATG	p.I460M	GRIA4_uc001piw.2_Missense_Mutation_p.I460M	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	460	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATATTGGTATCAAGTATAAAA	0.353		NaN											0	0	0	0.007413	0	20	53				
ATM	472	broad.mit.edu	37	11	108160459	108160459	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:108160459G>A	uc001pkb.1	+	29	4752	c.4367G>A	c.(4366-4368)GGC>GAC	p.G1456D	ATM_uc009yxr.1_Missense_Mutation_p.G1456D|ATM_uc001pkd.3_Missense_Mutation_p.G108D|ATM_uc001pke.1_Missense_Mutation_p.G108D|ATM_uc010rvw.1_Missense_Mutation_p.G108D|ATM_uc001pkf.2_Missense_Mutation_p.G108D	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1456					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATAAAAAGTGGCTTAGGAGGA	0.313		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.004007	0	16	62		Valid		
PPP2R1B	5519	broad.mit.edu	37	11	111636995	111636995	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:111636995C>T	uc001plx.1	-	1	175	c.91G>A	c.(91-93)GAG>AAG	p.E31K	PPP2R1B_uc001plw.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwi.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwl.1_Missense_Mutation_p.E31K	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	31	HEAT 1.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTGCGGAGCTCGTCGATTAAA	0.637		NaN											0	0	0	0.00245	0	14	69				
USP28	57646	broad.mit.edu	37	11	113697974	113697974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:113697974G>A	uc001poh.2	-	11	1201	c.1168C>T	c.(1168-1170)CAG>TAG	p.Q390*	USP28_uc001pog.2_Nonsense_Mutation_p.Q98*|USP28_uc010rwy.1_Nonsense_Mutation_p.Q265*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.Q390*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	390					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAATAATCTGAGGAAATTCC	0.363		NaN											0	0	0	0.00245	0	14	70				
MLL	4297	broad.mit.edu	37	11	118361911	118361911	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:118361911G>A	uc001pta.2	+	14	4720	c.4697G>A	c.(4696-4698)GGA>GAA	p.G1566E	MLL_uc001ptb.2_Missense_Mutation_p.G1566E|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1566	PHD-type 3.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTGCTTTCAGGAAACTTCTGC	0.418		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.013537	0	13	69		Valid		
OR8B8	26493	broad.mit.edu	37	11	124310898	124310898	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124310898G>A	uc010sal.1	-	1	84	c.84C>T	c.(82-84)TTC>TTT	p.F28F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAACAGGAAGAAGAGGGGGA	0.502		NaN											0	0	0	0.001855	0	13	77				
PANX3	116337	broad.mit.edu	37	11	124482954	124482954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:124482954C>A	uc001qah.2	+	2	260	c.260C>A	c.(259-261)TCA>TAA	p.S87*		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	87	Extracellular (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTGGGACTCACTGCTTCAC	0.557		NaN											1	0	1.56452e-12	0.007413	1.61141e-12	18	70				
FOXRED1	55572	broad.mit.edu	37	11	126139117	126139117	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:126139117C>T	uc001qdi.2	+	1	63	c.16C>T	c.(16-18)CTG>TTG	p.L6L	SRPR_uc001qdh.2_5'Flank|SRPR_uc010sbm.1_5'Flank|FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_5'UTR|FOXRED1_uc001qdk.2_5'Flank	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	6						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCGGAGGGTTCTGCCGCACGG	0.617		NaN											0	0	0	0.008871	0	18	65				
KCNJ5	3762	broad.mit.edu	37	11	128781855	128781855	+	Silent	SNP	C	C	T	rs149327599		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:128781855C>T	uc001qet.2	+	2	1001	c.687C>T	c.(685-687)ATC>ATT	p.I229I	KCNJ5_uc009zck.2_Silent_p.I229I|KCNJ5_uc001qew.2_Silent_p.I229I	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	229	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592		NaN											0	0	0	0.00623	0	38	119				
NCAPD3	23310	broad.mit.edu	37	11	134064592	134064592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr11:134064592C>T	uc001qhd.1	-	14	2263	c.1657G>A	c.(1657-1659)GAG>AAG	p.E553K	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	553	HEAT 2.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGGTCTTCTCATCCCTGATC	0.418		NaN											0	0	0	0.00245	0	14	79				
WNK1	65125	broad.mit.edu	37	12	936320	936320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:936320G>A	uc001qio.3	+	3	1552	c.1045G>A	c.(1045-1047)GAT>AAT	p.D349N	WNK1_uc001qin.2_Missense_Mutation_p.D349N|WNK1_uc001qip.3_Missense_Mutation_p.D349N	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	349	Protein kinase.	Proton acceptor (By similarity).			intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CATTCACCGCGATCTTAAATG	0.463		NaN											0	0	0	0.01441	0	69	225				
KCNA1	3736	broad.mit.edu	37	12	5020928	5020928	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:5020928G>A	uc001qnh.2	+	2	1489	c.384G>A	c.(382-384)GAG>GAA	p.E128E		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	128					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGCCATGGAGAAGTTCCGGG	0.632		NaN											0	0	0	0.006122	0	18	77				
CHD4	1108	broad.mit.edu	37	12	6690250	6690250	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:6690250C>G	uc001qpo.2	-	33	5033	c.4869G>C	c.(4867-4869)GTG>GTC	p.V1623V	CHD4_uc001qpn.2_Silent_p.V1616V|CHD4_uc001qpp.2_Silent_p.V1648V|uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1623	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTCTCCTTCACCTCTGCCT	0.403		NaN											0	0	0	0.01441	0	103	357				
LST-3TM12	338821	broad.mit.edu	37	12	21200106	21200106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21200106G>C	uc010sin.1	+	7	949	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.E364Q	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	317						membrane	transporter activity				0						TAAAATGGTGGAGCAACAGTA	0.338		NaN											0	0	0	0.006214	0	9	25				
C12orf39	80763	broad.mit.edu	37	12	21680080	21680080	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:21680080G>A	uc001rfa.1	+	3	250	c.99G>A	c.(97-99)GAG>GAA	p.E33E	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	spexin precursor	33						extracellular region|nucleus|transport vesicle					0						GACTGTTGGAGAGAAGGAACT	0.433		NaN											0	0	0	0.003271	0	34	133				
C12orf11	55726	broad.mit.edu	37	12	27066551	27066551	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:27066551C>T	uc001rhk.3	-	14	2181	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	C12orf11_uc001rhj.3_Silent_p.E116E|C12orf11_uc010sjk.1_Silent_p.E447E	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	548					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					TTTGATGTTTCTCTGAGTTGT	0.418		NaN											0	0	0	0.01441	0	115	375				
FGD4	121512	broad.mit.edu	37	12	32735372	32735372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:32735372G>A	uc001rkz.2	+	4	1048	c.571G>A	c.(571-573)GAG>AAG	p.E191K	FGD4_uc001rlc.2_Missense_Mutation_p.E276K|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.E303K|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.E191K	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	191					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TCTGGAACTGGAGCAGCTGGA	0.498		NaN											0	0	0	0.003163	0	14	75				
LRRK2	120892	broad.mit.edu	37	12	40753217	40753217	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:40753217G>C	uc001rmg.3	+	47	7120	c.6999G>C	c.(6997-6999)CAG>CAC	p.Q2333H	LRRK2_uc009zjw.2_Missense_Mutation_p.Q1171H|LRRK2_uc001rmi.2_Missense_Mutation_p.Q1166H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2333					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCACCATTCAGAAACTCATTG	0.303		NaN											0	0	0	0.006122	0	16	64				
COL2A1	1280	broad.mit.edu	37	12	48369179	48369179	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:48369179G>A	uc001rqu.2	-	51	3988	c.3807C>T	c.(3805-3807)ATC>ATT	p.I1269I	COL2A1_uc001rqt.2_Silent_p.I50I|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.I1200I	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1269	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGGGGCTGCGGATGCTCTCAA	0.607		NaN											0	0	0	0.003954	0	25	91				
ADCY6	112	broad.mit.edu	37	12	49176905	49176905	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49176905C>T	uc001rsh.3	-	1	973	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ADCY6_uc001rsj.3_Missense_Mutation_p.E105K|ADCY6_uc001rsi.3_Missense_Mutation_p.E105K	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	105	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						GGCGCCACCTCAGCCGTCCCG	0.711		NaN											0	0	0	0.00333	0	22	89				
DDX23	9416	broad.mit.edu	37	12	49228219	49228219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49228219G>C	uc001rsm.2	-	12	1535	c.1444C>G	c.(1444-1446)CAA>GAA	p.Q482E		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	482	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TCAATCTGTTGAGCCAACTCA	0.547		NaN											0	0	0	0.005524	0	33	110				
DDX23	9416	broad.mit.edu	37	12	49231850	49231850	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49231850G>C	uc001rsm.2	-	6	585	c.494C>G	c.(493-495)TCT>TGT	p.S165C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	165	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TTCTGCTTTAGAGAGGAACTT	0.498		NaN											0	0	0	0.007835	0	39	164				
MLL2	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:49434415G>A	uc001rta.3	-	31	7138	c.7138C>T	c.(7138-7140)CAG>TAG	p.Q2380*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2380	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AATGGGGGCTGAGCATATGGG	0.652		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.012319	0	19	41		Valid		
SPRYD3	84926	broad.mit.edu	37	12	53460151	53460151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460151C>G	uc001sbt.1	-	10	1162	c.1141G>C	c.(1141-1143)GAG>CAG	p.E381Q		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	381	Glu-rich.									central_nervous_system(1)	1						tcctcttcctcttcctcttcc	0.443		NaN									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	24	73				
SPRYD3	84926	broad.mit.edu	37	12	53460160	53460160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53460160C>T	uc001sbt.1	-	10	1153	c.1132G>A	c.(1132-1134)GAA>AAA	p.E378K		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	378	Glu-rich.									central_nervous_system(1)	1						tcttcctcttcctcctcttcc	0.428		NaN									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012319	0	21	71				
ATF7	11016	broad.mit.edu	37	12	53911120	53911120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:53911120G>C	uc001sdy.2	-	11	1307	c.1286C>G	c.(1285-1287)TCA>TGA	p.S429*	ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Nonsense_Mutation_p.S418*|ATF7_uc010sol.1_Nonsense_Mutation_p.S397*|uc001sdx.2_RNA	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	429	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CGTTGGCTCTGAGCTTTCCTT	0.547		NaN											0	0	0	0.00308	0	8	20				
GPR84	53831	broad.mit.edu	37	12	54756622	54756622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:54756622G>A	uc001sfu.2	-	2	1104	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	338	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						CCAGAATGTTGAGCAGCAAGA	0.537		NaN											0	0	0	0.01441	0	59	168				
PA2G4	5036	broad.mit.edu	37	12	56505295	56505295	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56505295G>C	uc001sjm.2	+	12	1520	c.1101G>C	c.(1099-1101)CAG>CAC	p.Q367H	PA2G4_uc009zol.2_Intron|PA2G4_uc009zom.2_Intron	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	367	Necessary for nucleolar localization.|Interaction with RNA (By similarity).				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAAAACCCAGAAAAAGAAAA	0.393		NaN											0	0	0	0.003755	0	33	142				
MIP	4284	broad.mit.edu	37	12	56848060	56848060	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56848060C>G	uc001slh.2	-	1	370	c.338G>C	c.(337-339)CGA>CCA	p.R113P		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	113	Extracellular (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						TAGGTTTCCTCGGACAGCAGG	0.597		NaN											0	0	0	0.003163	0	16	60				
GLS2	27165	broad.mit.edu	37	12	56868840	56868840	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:56868840G>C	uc001slj.2	-	10	1263	c.984C>G	c.(982-984)CTC>CTG	p.L328L	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L63L|GLS2_uc009zot.2_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	328				LK -> HE (in Ref. 1; AAF21933).	cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTTTTCCTTGAGATAATAGC	0.502		NaN											0	0	0	0.01441	0	56	200				
DTX3	196403	broad.mit.edu	37	12	58001129	58001129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:58001129G>C	uc001sow.1	+	5	820	c.483G>C	c.(481-483)GAG>GAC	p.E161D	DTX3_uc001sov.1_Missense_Mutation_p.E154D|DTX3_uc001sox.1_Missense_Mutation_p.E154D|DTX3_uc001soy.1_Missense_Mutation_p.E154D|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	deltex homolog 3	161					Notch signaling pathway	cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					AAGAGCAGGAGAGCACCTGCC	0.483		NaN											0	0	0	0.001984	0	6	16				
DPY19L2	283417	broad.mit.edu	37	12	63963010	63963010	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:63963010C>G	uc001srp.1	-	21	2301	c.2120G>C	c.(2119-2121)AGA>ACA	p.R707T	DPY19L2_uc010sso.1_Missense_Mutation_p.R154T	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	707					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCACTTAGTTCTCACAACACA	0.299		NaN											0	0	0	0.01441	0	37	120				
KRR1	11103	broad.mit.edu	37	12	75900673	75900673	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:75900673C>T	uc001sxt.2	-	3	323	c.282G>A	c.(280-282)CTG>CTA	p.L94L	KRR1_uc009zsc.2_Silent_p.L94L|KRR1_uc010stx.1_Silent_p.L94L	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	94					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						TGCCTTCGATCAGGTCCAGGG	0.373		NaN											0	0	0	0.00278	0	22	56				
NAV3	89795	broad.mit.edu	37	12	78225383	78225383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:78225383G>T	uc001syp.2	+	1	315	c.142G>T	c.(142-144)GAG>TAG	p.E48*	NAV3_uc001syo.2_Nonsense_Mutation_p.E48*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	48						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TACTGAAACAGAGAGCTCCAT	0.453		NaN								HNSCC(70;0.22)			1	0	8.16721e-17	0.010818	8.45889e-17	34	115				
C12orf50	160419	broad.mit.edu	37	12	88391905	88391905	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:88391905G>C	uc001tam.1	-	4	364	c.196C>G	c.(196-198)CTG>GTG	p.L66V	C12orf50_uc001tan.2_Missense_Mutation_p.L120V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	66										skin(2)|ovary(1)	3						TGAGGTTTCAGAGGTTCTTGA	0.373		NaN											0	0	0	0.014323	0	22	53				
DEPDC4	120863	broad.mit.edu	37	12	100649888	100649888	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:100649888C>G	uc001thi.2	-	4	820	c.817G>C	c.(817-819)GAT>CAT	p.D273H	DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.D219H|DEPDC4_uc009ztv.1_Missense_Mutation_p.D273H|DEPDC4_uc001thk.1_Missense_Mutation_p.D84H|DEPDC4_uc001thl.1_RNA	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	273					intracellular signal transduction						0						ATAACAAGATCTTCCTCTTTG	0.328		NaN											0	0	0	0.003954	0	26	91				
UTP20	27340	broad.mit.edu	37	12	101711260	101711260	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:101711260G>C	uc001tia.1	+	22	2713	c.2557G>C	c.(2557-2559)GAG>CAG	p.E853Q		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	853					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CGGTAGCAATGAGTATTACCC	0.473		NaN											0	0	0	0.00499	0	16	51				
MYBPC1	4604	broad.mit.edu	37	12	102036345	102036345	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:102036345G>C	uc001tii.2	+	9	841	c.739G>C	c.(739-741)GAG>CAG	p.E247Q	MYBPC1_uc001tif.1_Missense_Mutation_p.E260Q|MYBPC1_uc001tig.2_Missense_Mutation_p.E272Q|MYBPC1_uc010svq.1_Missense_Mutation_p.E234Q|MYBPC1_uc001tih.2_Missense_Mutation_p.E272Q|MYBPC1_uc001tij.2_Missense_Mutation_p.E247Q|MYBPC1_uc010svr.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svs.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svt.1_Missense_Mutation_p.E235Q|MYBPC1_uc010svu.1_Missense_Mutation_p.E228Q|MYBPC1_uc001tik.2_Missense_Mutation_p.E221Q	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	247					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CATGCGCAGAGAGGAGAAGAA	0.632		NaN											0	0	0	0.000602	0	4	9				
ANKRD13A	88455	broad.mit.edu	37	12	110463573	110463573	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:110463573G>A	uc001tpx.2	+	8	1087	c.828G>A	c.(826-828)GTG>GTA	p.V276V	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc010sxw.1_Silent_p.V276V|ANKRD13A_uc001tpy.2_5'UTR|ANKRD13A_uc001tpz.2_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	276											0						ATGTGAATGTGATCACCAAAA	0.398		NaN											0	0	0	0.01441	0	57	123				
BRAP	8315	broad.mit.edu	37	12	112096587	112096587	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:112096587C>T	uc001tsn.3	-	9	1368	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	BRAP_uc010syh.1_Missense_Mutation_p.E213K|BRAP_uc009zvv.2_Missense_Mutation_p.E362K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	392					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GTATCCCCCTCACATTCATAC	0.348		NaN											0	0	0	0.008871	0	18	73				
NOS1	4842	broad.mit.edu	37	12	117685219	117685219	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:117685219C>G	uc001twm.1	-	18	3443	c.2757G>C	c.(2755-2757)ATG>ATC	p.M919I		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	919	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCCTTCCCTCATCTTCAGGA	0.547		NaN											0	0	0	0.003954	0	25	97				
CIT	11113	broad.mit.edu	37	12	120166373	120166373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:120166373C>T	uc001txi.1	-	27	3452	c.3399G>A	c.(3397-3399)ATG>ATA	p.M1133I	CIT_uc001txh.1_Missense_Mutation_p.M667I|CIT_uc001txj.1_Missense_Mutation_p.M1175I	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1133	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGGGCATTCATTTCAAGCA	0.463		NaN											0	0	0	0.01441	0	84	280				
KDM2B	84678	broad.mit.edu	37	12	121882022	121882022	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:121882022G>C	uc001uat.2	-	16	2348	c.2244C>G	c.(2242-2244)CTC>CTG	p.L748L	KDM2B_uc001uaq.2_Silent_p.L188L|KDM2B_uc010szy.1_Silent_p.L188L|KDM2B_uc001uar.2_Silent_p.L339L|KDM2B_uc001uas.2_Silent_p.L717L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	748					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCTGCTCCTTGAGCAGGGAGC	0.572		NaN									OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	38	90				
SETD8	387893	broad.mit.edu	37	12	123875261	123875261	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:123875261G>A	uc001uew.2	+	3	259	c.217G>A	c.(217-219)GAG>AAG	p.E73K	SETD8_uc001uex.2_Missense_Mutation_p.E8K	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	114					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCTTCAGGAAGAGAACTCAGT	0.453		NaN											0	0	0	0.00333	0	24	90				
PIWIL1	9271	broad.mit.edu	37	12	130830392	130830392	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:130830392G>A	uc001uik.2	+	4	375	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q	PIWIL1_uc001uij.1_Silent_p.Q95Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	95					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATACAAGGCAGAACCTAGACC	0.393		NaN											0	0	0	0.007413	0	19	84				
GPR133	283383	broad.mit.edu	37	12	131498798	131498798	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr12:131498798G>A	uc001uit.3	+	13	1945	c.1386G>A	c.(1384-1386)CTG>CTA	p.L462L	GPR133_uc010tbm.1_Silent_p.L494L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	462	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAGCCACCTGATTTCCCTGG	0.582		NaN											0	0	0	0.00308	0	8	102				
ZMYM2	7750	broad.mit.edu	37	13	20567555	20567555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567555G>A	uc001umr.2	+	4	641	c.343G>A	c.(343-345)GAG>AAG	p.E115K	ZMYM2_uc001umq.2_Missense_Mutation_p.E115K|ZMYM2_uc001ums.2_Missense_Mutation_p.E115K|ZMYM2_uc001umt.2_Missense_Mutation_p.E115K|ZMYM2_uc009zzn.1_Missense_Mutation_p.E137K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGTGTAAGTGAGACAATTGT	0.353		NaN											0	0	0	0.001855	0	13	33				
ZMYM2	7750	broad.mit.edu	37	13	20567608	20567608	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:20567608G>C	uc001umr.2	+	4	694	c.396G>C	c.(394-396)GAG>GAC	p.E132D	ZMYM2_uc001umq.2_Missense_Mutation_p.E132D|ZMYM2_uc001ums.2_Missense_Mutation_p.E132D|ZMYM2_uc001umt.2_Missense_Mutation_p.E132D|ZMYM2_uc009zzn.1_Missense_Mutation_p.E154D	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGGGCAAGAGAAAAATTCCT	0.383		NaN											0	0	0	0.004007	0	17	65				
MRP63	78988	broad.mit.edu	37	13	21751269	21751269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:21751269G>C	uc001unw.2	+	2	704	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	72											0		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGAGGCCTTCGAGGCCATAAA	0.612		NaN											0	0	0	0.013537	0	12	41				
NBEA	26960	broad.mit.edu	37	13	36229746	36229746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:36229746G>A	uc001uvb.2	+	54	8365	c.8159G>A	c.(8158-8160)TGG>TAG	p.W2720*	NBEA_uc010abi.2_Nonsense_Mutation_p.W1376*|NBEA_uc010tef.1_Nonsense_Mutation_p.W513*|NBEA_uc001uvd.2_Nonsense_Mutation_p.W298*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2720	WD 2.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGGCCATTGGGATGTGGTC	0.458		NaN											0	0	0	0.01441	0	61	214				
ELF1	1997	broad.mit.edu	37	13	41515451	41515451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41515451G>A	uc001uxs.2	-	8	1235	c.862C>T	c.(862-864)CAG>TAG	p.Q288*	ELF1_uc010tfc.1_Nonsense_Mutation_p.Q264*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q181*	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	288	ETS.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCTTTAAACTGATACACCAAG	0.368		NaN											0	0	0	0.01441	0	58	185				
KBTBD6	89890	broad.mit.edu	37	13	41705016	41705016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705016C>G	uc001uxu.1	-	1	1921	c.1632G>C	c.(1630-1632)TGG>TGC	p.W544C	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.W478C|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	544	Kelch 4.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCATTTGCCTCCATTCTGCCC	0.448		NaN											0	0	0	0.01441	0	52	173				
KBTBD6	89890	broad.mit.edu	37	13	41705099	41705099	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41705099C>T	uc001uxu.1	-	1	1838	c.1549G>A	c.(1549-1551)GAA>AAA	p.E517K	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E451K|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	517	Kelch 3.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACGCAGGCTTCCTGAAAGTCA	0.433		NaN											0	0	0	0.007413	0	20	109				
KBTBD6	89890	broad.mit.edu	37	13	41706332	41706332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41706332C>G	uc001uxu.1	-	1	605	c.316G>C	c.(316-318)GAG>CAG	p.E106Q	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Intron|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	106	BTB.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCTGGCTCTCGTACATGCCA	0.622		NaN											0	0	0	0.004007	0	17	59				
NAA16	79612	broad.mit.edu	37	13	41943355	41943355	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:41943355G>C	uc001uyf.2	+	15	2207	c.1883G>C	c.(1882-1884)AGA>ACA	p.R628T	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	628					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						aagaaaaaaagagatgaagaa	0.224		NaN											0	0	0	0.013537	0	13	69				
TNFSF11	8600	broad.mit.edu	37	13	43180957	43180957	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:43180957G>C	uc001uyu.2	+	5	1006	c.857G>C	c.(856-858)GGA>GCA	p.G286A	TNFSF11_uc001uyt.2_Missense_Mutation_p.G213A	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	286	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTACGGTCTGGAGAGGAAATC	0.433		NaN											0	0	0	0.004289	0	36	135				
KPNA3	3839	broad.mit.edu	37	13	50276524	50276524	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50276524C>T	uc001vdj.2	-	16	1880	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	489					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTACTTACATCATCACCAGAG	0.274		NaN											0	0	0	0.008291	0	9	42				
KPNA3	3839	broad.mit.edu	37	13	50299570	50299570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299570G>A	uc001vdj.2	-	7	866	c.451C>T	c.(451-453)CAA>TAA	p.Q151*		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	151	ARM 3.|NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACAACAGCTTGAGTCTGTGCA	0.338		NaN											0	0	0	0.004007	0	14	44				
KPNA3	3839	broad.mit.edu	37	13	50299581	50299581	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:50299581G>A	uc001vdj.2	-	7	855	c.440C>T	c.(439-441)TCT>TTT	p.S147F		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	147	ARM 2.|NLS binding site (major) (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AGTCTGTGCAGAAGTTCCTGA	0.348		NaN											0	0	0	0.00499	0	15	49				
GPC5	2262	broad.mit.edu	37	13	92560198	92560198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:92560198C>T	uc010tif.1	+	6	1654	c.1288C>T	c.(1288-1290)CAG>TAG	p.Q430*		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	430						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TAGTTATACTCAGCGTGTGGT	0.383		NaN											0	0	0	0.00278	0	20	74				
TPP2	7174	broad.mit.edu	37	13	103298650	103298650	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103298650G>A	uc001vpi.3	+	20	2503	c.2400G>A	c.(2398-2400)GTG>GTA	p.V800V		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	800					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCCCAGTGAGTGCAAAAA	0.338		NaN											0	0	0	0.010729	0	11	41				
SLC10A2	6555	broad.mit.edu	37	13	103701788	103701788	+	Missense_Mutation	SNP	G	G	A	rs145541774		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:103701788G>A	uc001vpy.3	-	5	1367	c.770C>T	c.(769-771)ACG>ATG	p.T257M		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	257	Extracellular (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAAGCAACCGTTCGGCACCT	0.408		NaN											0	0	0	0.006122	0	18	55				
FAM155A	728215	broad.mit.edu	37	13	108518440	108518440	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:108518440C>T	uc001vql.2	-	1	1021	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	169						integral to membrane	binding			skin(1)	1						TAACAAGTCTCCAGGCGCCAC	0.697		NaN											0	0	0	0.004007	0	16	66				
TEP1	7011	broad.mit.edu	37	14	20841487	20841487	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20841487G>A	uc001vxe.2	-	47	6796	c.6756C>T	c.(6754-6756)CTC>CTT	p.L2252L	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.L1595L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L2144L|TEP1_uc010tlh.1_Silent_p.L590L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2252	WD 15.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTCAGCATGAGGCCTGAGG	0.587		NaN											0	0	0	0.004878	0	38	113				
RNASE10	338879	broad.mit.edu	37	14	20978929	20978929	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:20978929C>G	uc010tlj.1	+	1	299	c.299C>G	c.(298-300)TCA>TGA	p.S100*	RNASE10_uc001vxp.2_Nonsense_Mutation_p.S128*	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	100						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAGAGCCTCAGCTCTCTTT	0.493		NaN											0	0	0	0.008291	0	11	35				
CHD8	57680	broad.mit.edu	37	14	21863460	21863460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:21863460C>T	uc001was.1	-	29	4436	c.4342G>A	c.(4342-4344)GAA>AAA	p.E1448K	CHD8_uc001war.1_Missense_Mutation_p.E1344K	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1727					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTTTACCTTCATCTCCATCA	0.468		NaN											0	0	0	0.001984	0	7	24				
CDH24	64403	broad.mit.edu	37	14	23524387	23524387	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:23524387G>A	uc001wil.2	-	3	637	c.377C>T	c.(376-378)TCC>TTC	p.S126F	CDH24_uc010akf.2_Missense_Mutation_p.S126F|CDH24_uc001win.3_Missense_Mutation_p.S126F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	126	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGCCGGTTGGAGGCTCGGTC	0.552		NaN									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	20	131				
HECTD1	25831	broad.mit.edu	37	14	31574848	31574848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:31574848G>C	uc001wrc.1	-	39	7742	c.7253C>G	c.(7252-7254)TCA>TGA	p.S2418*	HECTD1_uc001wra.1_Nonsense_Mutation_p.S544*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.S544*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2418	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATATATTCTTGAGGAAGGGCA	0.328		NaN											0	0	0	0.003271	0	35	83				
PSMA6	5687	broad.mit.edu	37	14	35786501	35786501	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:35786501G>C	uc001wtd.2	+	7	839	c.730G>C	c.(730-732)GAG>CAG	p.E244Q	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.E165Q|PSMA6_uc010tpu.1_Missense_Mutation_p.E165Q	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TGCTCTAGCAGAGAGAGACTA	0.383		NaN											0	0	0	0.012213	0	30	168				
CTAGE5	4253	broad.mit.edu	37	14	39762517	39762517	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:39762517G>A	uc001wvg.3	+	6	763	c.427G>A	c.(427-429)GAT>AAT	p.D143N	CTAGE5_uc010tqe.1_Missense_Mutation_p.D105N|CTAGE5_uc001wuz.3_Missense_Mutation_p.D131N|CTAGE5_uc001wuy.3_Missense_Mutation_p.D63N|CTAGE5_uc001wvb.3_Missense_Mutation_p.D114N|CTAGE5_uc001wvc.3_Missense_Mutation_p.D88N|CTAGE5_uc001wva.3_Missense_Mutation_p.D114N|CTAGE5_uc001wve.1_Missense_Mutation_p.D119N|CTAGE5_uc001wvh.3_Missense_Mutation_p.D143N|CTAGE5_uc001wvf.3_Missense_Mutation_p.D68N|CTAGE5_uc001wvi.3_Missense_Mutation_p.D148N|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.D114N	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	143	Potential.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGAACTTGAGGATGAAATACT	0.323		NaN											0	0	0	0.00308	0	6	66				
FANCM	57697	broad.mit.edu	37	14	45658401	45658401	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:45658401C>G	uc001wwd.3	+	20	5275	c.5176C>G	c.(5176-5178)CCA>GCA	p.P1726A	FANCM_uc010anf.2_Missense_Mutation_p.P1700A|FANCM_uc001wwe.3_Missense_Mutation_p.P1262A|FANCM_uc010ang.2_Missense_Mutation_p.P940A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1726					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AAGAGTTAATCCATTAGCAAA	0.408		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	72	222				
NIN	51199	broad.mit.edu	37	14	51196370	51196370	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51196370C>T	uc001wym.2	-	29	6140	c.5949G>A	c.(5947-5949)CAG>CAA	p.Q1983Q	NIN_uc001wyi.2_Silent_p.Q1983Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.Q1270Q|NIN_uc010tqp.1_Silent_p.Q1989Q|NIN_uc001wyo.2_Silent_p.Q1983Q|NIN_uc001wyn.2_RNA	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1983	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GACAGGCTTGCTGCTGGAGCA	0.582		NaN	T	PDGFRB	MPD								0	0	0	0.004482	0	5	19				
NIN	51199	broad.mit.edu	37	14	51204915	51204915	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:51204915C>T	uc001wym.2	-	27	5909	c.5718G>A	c.(5716-5718)TTG>TTA	p.L1906L	NIN_uc001wyi.2_Silent_p.L1906L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L1193L|NIN_uc010tqp.1_Silent_p.L1912L|NIN_uc001wyo.2_Silent_p.L1906L|NIN_uc001wyn.2_RNA	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1906					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTTTAAGCTCAATTTTTCTT	0.413		NaN	T	PDGFRB	MPD								0	0	0	0.010771	0	46	146				
MUDENG	55745	broad.mit.edu	37	14	57741516	57741516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:57741516C>G	uc001xcv.2	+	2	1056	c.629C>G	c.(628-630)TCT>TGT	p.S210C	MUDENG_uc001xcu.3_Missense_Mutation_p.S210C|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.S107C	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	210	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						CCACAAGTTTCTATTTCTATC	0.378		NaN											0	0	0	0.014323	0	22	101				
ARID4A	5926	broad.mit.edu	37	14	58831340	58831340	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:58831340G>A	uc001xdp.2	+	20	2787	c.2533G>A	c.(2533-2535)GAA>AAA	p.E845K	ARID4A_uc001xdo.2_Missense_Mutation_p.E845K|ARID4A_uc001xdq.2_Missense_Mutation_p.E845K|ARID4A_uc010apg.1_Missense_Mutation_p.E523K	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	845					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TACAGAAGATGAAATTGACCA	0.343		NaN											0	0	0	0.00308	0	8	50				
C14orf39	317761	broad.mit.edu	37	14	60923747	60923747	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:60923747C>T	uc001xez.3	-	15	1356	c.1246G>A	c.(1246-1248)GAG>AAG	p.E416K	C14orf39_uc010apo.2_Missense_Mutation_p.E127K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	416										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGAAAATTCTCAGCTCTCTCT	0.353		NaN											0	0	0	0.01441	0	47	158				
PSEN1	5663	broad.mit.edu	37	14	73614734	73614734	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:73614734G>A	uc001xnr.2	+	3	291	c.7G>A	c.(7-9)GAG>AAG	p.E3K	PSEN1_uc001xnv.2_Missense_Mutation_p.E3K|PSEN1_uc010ark.2_Missense_Mutation_p.E3K|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.E3K	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	3	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAATGACAGAGTTACCTGC	0.428		NaN											0	0	0	0.003163	0	11	38				
ACOT6	641372	broad.mit.edu	37	14	74086448	74086448	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74086448C>T	uc001xop.2	+	2	860	c.529C>T	c.(529-531)CAC>TAC	p.H177Y		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	177						cytosol	carboxylesterase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCCAAAGGCTCACTCAAAGGC	0.423		NaN											0	0	0	0.013537	0	13	71				
PNMA1	9240	broad.mit.edu	37	14	74179622	74179622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74179622C>G	uc001xor.1	-	1	1507	c.721G>C	c.(721-723)GAG>CAG	p.E241Q		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ctagagctctcaacgctccca	0		NaN											0	0	0	0.006999	0	35	132				
PNMA1	9240	broad.mit.edu	37	14	74180243	74180243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74180243C>T	uc001xor.1	-	1	886	c.100G>A	c.(100-102)GAA>AAA	p.E34K		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	34					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tcttcgatttcagcctcatca	0		NaN											0	0	0	0.01441	0	57	171				
C14orf115	55237	broad.mit.edu	37	14	74824670	74824670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:74824670C>G	uc001xpw.3	+	2	1375	c.1184C>G	c.(1183-1185)TCA>TGA	p.S395*		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	395					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CTGGCGGTGTCAAGCCCTGGA	0.607		NaN											0	0	0	0.004482	0	9	58				
TTLL5	23093	broad.mit.edu	37	14	76249706	76249706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249706C>T	uc001xrx.2	+	26	3024	c.2819C>T	c.(2818-2820)TCT>TTT	p.S940F	TTLL5_uc010ask.1_Missense_Mutation_p.S954F|TTLL5_uc001xrz.2_Missense_Mutation_p.S515F|TTLL5_uc001xsa.2_Missense_Mutation_p.S13F|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	940					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAGTCTCTGCCAGTGCT	0.537		NaN											0	0	0	0.00333	0	25	90				
TTLL5	23093	broad.mit.edu	37	14	76249833	76249833	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:76249833C>T	uc001xrx.2	+	26	3151	c.2946C>T	c.(2944-2946)ATC>ATT	p.I982I	TTLL5_uc010ask.1_Silent_p.I996I|TTLL5_uc001xrz.2_Silent_p.I557I|TTLL5_uc001xsa.2_Silent_p.I55I|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	982					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGCACACATCTATAGCCAGA	0.532		NaN											0	0	0	0.012319	0	20	109				
C14orf4	64207	broad.mit.edu	37	14	77492255	77492255	+	Silent	SNP	G	G	C	rs142866521		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:77492255G>C	uc001xsy.2	-	1	2780	c.1881C>G	c.(1879-1881)CTC>CTG	p.L627L		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	627						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CCACCGACATGAGAGCGGCCA	0.582		NaN											0	0	0	0.001168	0	6	20				
SEL1L	6400	broad.mit.edu	37	14	81950592	81950592	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:81950592C>G	uc010tvv.1	-	19	2140	c.2023G>C	c.(2023-2025)GAG>CAG	p.E675Q		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	675	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGTCCTTTCTCATGCATATAT	0.393		NaN											0	0	0	0.01441	0	147	551				
ATG2B	55102	broad.mit.edu	37	14	96807895	96807895	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96807895G>A	uc001yfi.2	-	6	1253	c.888C>T	c.(886-888)CTC>CTT	p.L296L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	296										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTTCAACGTGAGACTCAACT	0.393		NaN											0	0	0	0.008361	0	25	94				
AK7	122481	broad.mit.edu	37	14	96912857	96912857	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:96912857G>C	uc001yfn.2	+	8	827	c.783G>C	c.(781-783)GTG>GTC	p.V261V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	261	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TCTGCAGAGTGATACAAAACG	0.473		NaN											0	0	0	0.007291	0	25	59				
BAG5	9529	broad.mit.edu	37	14	104026370	104026370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026370C>A	uc001yni.1	-	2	1366	c.1132G>T	c.(1132-1134)GAG>TAG	p.E378*	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Nonsense_Mutation_p.E419*|BAG5_uc001ynj.1_Nonsense_Mutation_p.E378*|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	378	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGGATCTCAGACAAGTTT	0.483		NaN											1	0	1.34996e-11	0.009718	1.38734e-11	39	121				
BAG5	9529	broad.mit.edu	37	14	104026577	104026577	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104026577C>T	uc001yni.1	-	2	1159	c.925G>A	c.(925-927)GAA>AAA	p.E309K	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E350K|BAG5_uc001ynj.1_Missense_Mutation_p.E309K|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	309	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			CCCTGCAATTCTGTTTTGGAG	0.408		NaN											0	0	0	0.008361	0	31	102				
KLC1	3831	broad.mit.edu	37	14	104037964	104037964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:104037964C>G	uc010tyd.1	+	2	168	c.128C>G	c.(127-129)TCA>TGA	p.S43*	C14orf153_uc001ynl.3_RNA|C14orf153_uc010tyc.1_Nonsense_Mutation_p.S56*	NM_005552	NP_005543	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 1	Error:Variant_position_missing_in_Q07866_after_alignment					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTAAAGGTCTCAAGATTCTGC	0.299		NaN											0	0	0	0.003954	0	25	107				
INF2	64423	broad.mit.edu	37	14	105169764	105169764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105169764C>T	uc001ypb.2	+	4	783	c.640C>T	c.(640-642)CGC>TGC	p.R214C	INF2_uc010tyi.1_Missense_Mutation_p.R214C|INF2_uc001ypc.2_Missense_Mutation_p.R214C|INF2_uc001yoy.3_Missense_Mutation_p.R214C|INF2_uc001ypa.2_Missense_Mutation_p.R214C	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	214	GBD/FH3.		R -> H (in FSGS5).		actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGCGCGCGCGCACCCAGCT	0.652		NaN											0	0	0	0.007291	0	28	130				
INF2	64423	broad.mit.edu	37	14	105177451	105177451	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr14:105177451C>T	uc001ypb.2	+	15	2489	c.2346C>T	c.(2344-2346)ATC>ATT	p.I782I	INF2_uc010tyi.1_Silent_p.I782I|INF2_uc001ypc.2_Silent_p.I782I|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	782	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCTTCAAGATCAGCACATTGC	0.667		NaN											0	0	0	0.009096	0	3	7				
CASC5	57082	broad.mit.edu	37	15	40920870	40920870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:40920870G>C	uc010bbs.1	+	13	5816	c.5655G>C	c.(5653-5655)TTG>TTC	p.L1885F	CASC5_uc010bbt.1_Missense_Mutation_p.L1859F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1885	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGAGAGCTTGAGGGAGGTAT	0.308		NaN											0	0	0	0.013537	0	12	91				
DLL4	54567	broad.mit.edu	37	15	41229093	41229093	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:41229093G>C	uc001zng.1	+	9	2228	c.1908G>C	c.(1906-1908)AAG>AAC	p.K636N		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	636	Cytoplasmic (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGACAAGAGCTTAGGAG	0.612		NaN											0	0	0	0.006214	0	8	25				
VPS39	23339	broad.mit.edu	37	15	42462051	42462051	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42462051C>T	uc001zpd.2	-	13	1288	c.1137G>A	c.(1135-1137)GTG>GTA	p.V379V	VPS39_uc001zpc.2_Silent_p.V368V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	379					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACAGGCCCATCACATGGGTGG	0.468		NaN											0	0	0	0.00623	0	32	108				
GANC	2595	broad.mit.edu	37	15	42568597	42568597	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:42568597C>T	uc001zpi.2	+	2	395	c.81C>T	c.(79-81)ATC>ATT	p.I27I	GANC_uc001zph.2_Silent_p.I27I|GANC_uc001zpj.1_5'UTR|TMEM87A_uc010udd.1_5'Flank|TMEM87A_uc001zpf.3_5'Flank|TMEM87A_uc010bcu.1_5'Flank|TMEM87A_uc001zpg.2_5'Flank|GANC_uc010ude.1_Silent_p.I27I	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	27					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTAACAAGATCGCATTTTACA	0.294		NaN											0	0	0	0.004672	0	3	31				
PPIP5K1	9677	broad.mit.edu	37	15	43873500	43873500	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:43873500C>T	uc001zrw.2	-	9	1047	c.864G>A	c.(862-864)GGG>GGA	p.G288G	PPIP5K1_uc001zrx.1_Silent_p.G288G|PPIP5K1_uc001zru.2_Silent_p.G288G|PPIP5K1_uc001zry.3_Silent_p.G288G|PPIP5K1_uc001zrv.2_Silent_p.G288G|PPIP5K1_uc001zrz.1_Silent_p.G288G|PPIP5K1_uc010udr.1_Silent_p.G288G	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	288					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						GAATCTCTTTCCCCTCACTGT	0.512		NaN											0	0	0	0.01441	0	52	259				
TMOD2	29767	broad.mit.edu	37	15	52069173	52069173	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:52069173G>A	uc002abk.2	+	5	672	c.451G>A	c.(451-453)GAA>AAA	p.E151K	TMOD2_uc002abl.3_Missense_Mutation_p.E151K|TMOD2_uc010bfb.2_Missense_Mutation_p.E107K	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	151					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		AAAGTTCGATGAAGAAACAGC	0.418		NaN											0	0	0	0.004656	0	23	59				
WDR72	256764	broad.mit.edu	37	15	53908309	53908309	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:53908309G>C	uc002acj.2	-	15	2136	c.2094C>G	c.(2092-2094)CTC>CTG	p.L698L	WDR72_uc010bfi.1_Silent_p.L698L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	698										lung(1)|skin(1)	2				all cancers(107;0.0511)		CAACATCACTGAGTGGAGTTG	0.408		NaN											0	0	0	0.004482	0	9	83				
NEDD4	4734	broad.mit.edu	37	15	56130727	56130727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:56130727C>T	uc002adj.2	-	18	3664	c.3364G>A	c.(3364-3366)GAT>AAT	p.D1122N	NEDD4_uc002adl.2_Missense_Mutation_p.D703N|NEDD4_uc002adi.2_Missense_Mutation_p.D1050N|NEDD4_uc010ugj.1_Missense_Mutation_p.D1106N|NEDD4_uc010bfm.2_Missense_Mutation_p.D1105N|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1122	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTTCTTCATCTATGATAAAC	0.308		NaN											0	0	0	0.005443	0	21	66				
SPG21	51324	broad.mit.edu	37	15	65255979	65255979	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65255979G>A	uc002aod.2	-	9	1002	c.909C>T	c.(907-909)ATC>ATT	p.I303I	SPG21_uc002aoe.2_Silent_p.I303I|SPG21_uc010bhb.2_Silent_p.I276I|SPG21_uc010bhc.2_Silent_p.I149I	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	303					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						CCTCCTGGCTGATGCCAAGGC	0.527		NaN											0	0	0	0.01441	0	48	124				
C15orf44	81556	broad.mit.edu	37	15	65871820	65871820	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:65871820C>G	uc002apd.2	-	12	1819	c.1483G>C	c.(1483-1485)GAG>CAG	p.E495Q	C15orf44_uc010uix.1_Missense_Mutation_p.E531Q|C15orf44_uc010uiz.1_Missense_Mutation_p.E459Q|C15orf44_uc010uja.1_Missense_Mutation_p.E445Q|C15orf44_uc010ujb.1_Missense_Mutation_p.E416Q|C15orf44_uc002ape.3_Missense_Mutation_p.E495Q|C15orf44_uc010uiy.1_Missense_Mutation_p.E416Q	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	495										ovary(1)	1						GCGGCATACTCAGAGGTGCCG	0.532		NaN											0	0	0	0.004878	0	38	127				
HCN4	10021	broad.mit.edu	37	15	73660074	73660074	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:73660074C>T	uc002avp.2	-	1	1532	c.538G>A	c.(538-540)GAG>AAG	p.E180K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	180	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GAGGGCTGCTCGCAGGAGGCG	0.786		NaN											0	0	0	0.000602	0	5	12				
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:83776476C>G	uc002bjp.2	+	1	153	c.44C>G	c.(43-45)TCG>TGG	p.S15W	TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	15	Helical; (Potential).					integral to membrane				ovary(1)	1						CTGTCCCTCTCGGCCATCCCG	0.567		NaN											0	0	0	0.000602	0	5	25				
ACAN	176	broad.mit.edu	37	15	89398115	89398115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:89398115G>A	uc010upo.1	+	12	2673	c.2299G>A	c.(2299-2301)GCA>ACA	p.A767T	ACAN_uc010upp.1_Missense_Mutation_p.A767T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	767					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACTGGCGCAGCAACAGAGGA	0.522		NaN											0	0	0	0.004672	0	3	19				
CRTC3	64784	broad.mit.edu	37	15	91083274	91083274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91083274C>G	uc002bpp.2	+	2	242	c.136C>G	c.(136-138)CAA>GAA	p.Q46E	CRTC3_uc002bpn.2_Missense_Mutation_p.Q46E|CRTC3_uc002bpo.2_Missense_Mutation_p.Q46E	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	46	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCAGGTTCAATTTCAGAA	0.443		NaN	T	MAML2	salivary gland mucoepidermoid								0	0	0	0.004656	0	25	48				
FURIN	5045	broad.mit.edu	37	15	91424753	91424753	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr15:91424753G>A	uc002bpu.1	+	16	2246	c.2030G>A	c.(2029-2031)CGG>CAG	p.R677Q	FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	677	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTTGCTCCCGGCAAAGCCAG	0.716		NaN											0	0	0	0.000602	0	4	22				
MAPK8IP3	23162	broad.mit.edu	37	16	1756554	1756554	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:1756554G>A	uc002cmk.2	+	1	334	c.214G>A	c.(214-216)GAG>AAG	p.E72K	MAPK8IP3_uc002cmi.1_Missense_Mutation_p.E72K|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.E72K|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E72K	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	72	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GGTGCTCAGCGAGAACCAGGA	0.637		NaN											0	0	0	0.013537	0	11	23				
PKD1	5310	broad.mit.edu	37	16	2159441	2159441	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2159441G>A	uc002cos.1	-	15	5936	c.5727C>T	c.(5725-5727)ATC>ATT	p.I1909I	PKD1_uc002cot.1_Silent_p.I1909I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1909	Extracellular (Potential).|PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CAGCCAGCAGGATCTGAAAAT	0.701		NaN											0	0	0	0.004482	0	6	23				
AMDHD2	51005	broad.mit.edu	37	16	2570863	2570863	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:2570863G>A	uc002cqq.2	+	2	274	c.177G>A	c.(175-177)GGG>GGA	p.G59G	AMDHD2_uc002cqp.2_Silent_p.G59G|AMDHD2_uc010uwc.1_Silent_p.G59G|AMDHD2_uc010uwd.1_Intron	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	59					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						GGGACTGCGGGGGCCGCATCT	0.687		NaN											0	0	0	0.00308	0	4	33				
ZNF200	7752	broad.mit.edu	37	16	3273910	3273910	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273910C>G	uc002cuj.2	-	5	1802	c.1170G>C	c.(1168-1170)AAG>AAC	p.K390N	ZNF200_uc002cum.3_Missense_Mutation_p.K389N|ZNF200_uc010bti.2_Missense_Mutation_p.K389N|ZNF200_uc002cuk.2_Missense_Mutation_p.K390N|ZNF200_uc002cui.2_Missense_Mutation_p.K389N|ZNF200_uc002cul.3_Missense_Mutation_p.K389N	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GCTTTCGGGTCTTACAGGCTG	0.483		NaN											0	0	0	0.01441	0	50	307				
ZNF200	7752	broad.mit.edu	37	16	3273931	3273931	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273931C>G	uc002cuj.2	-	5	1781	c.1149G>C	c.(1147-1149)GAG>GAC	p.E383D	ZNF200_uc002cum.3_Missense_Mutation_p.E382D|ZNF200_uc010bti.2_Missense_Mutation_p.E382D|ZNF200_uc002cuk.2_Missense_Mutation_p.E383D|ZNF200_uc002cui.2_Missense_Mutation_p.E382D|ZNF200_uc002cul.3_Missense_Mutation_p.E382D	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	383	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGTGGGTTTTCTCATGCCGGG	0.478		NaN											0	0	0	0.01441	0	44	351				
ZNF200	7752	broad.mit.edu	37	16	3273959	3273959	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273959C>G	uc002cuj.2	-	5	1753	c.1121G>C	c.(1120-1122)GGT>GCT	p.G374A	ZNF200_uc002cum.3_Missense_Mutation_p.G373A|ZNF200_uc010bti.2_Missense_Mutation_p.G373A|ZNF200_uc002cuk.2_Missense_Mutation_p.G374A|ZNF200_uc002cui.2_Missense_Mutation_p.G373A|ZNF200_uc002cul.3_Missense_Mutation_p.G373A	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	374	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TGACAGCCGACCAAATCTTCT	0.483		NaN											0	0	0	0.01441	0	46	418				
ZNF200	7752	broad.mit.edu	37	16	3273997	3273997	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3273997C>T	uc002cuj.2	-	5	1715	c.1083G>A	c.(1081-1083)GAG>GAA	p.E361E	ZNF200_uc002cum.3_Silent_p.E360E|ZNF200_uc010bti.2_Silent_p.E360E|ZNF200_uc002cuk.2_Silent_p.E361E|ZNF200_uc002cui.2_Silent_p.E360E|ZNF200_uc002cul.3_Silent_p.E360E	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CATATGGTCTCTCAGCCTCAT	0.453		NaN											0	0	0	0.01441	0	87	394				
ZNF263	10127	broad.mit.edu	37	16	3339455	3339455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3339455C>T	uc002cuq.2	+	6	1281	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	317					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						CATCCACCCTCAGGTGCTGCT	0.562		NaN											0	0	0	0.01441	0	45	163				
BTBD12	84464	broad.mit.edu	37	16	3656547	3656547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:3656547C>T	uc002cvp.2	-	3	1315	c.688G>A	c.(688-690)GAG>AAG	p.E230K	BTBD12_uc002cvq.1_Missense_Mutation_p.E230K	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	230	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGGGAGCACTCTTCTGAAGCG	0.542		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				0	0	0	0.01441	0	81	268				
GLIS2	84662	broad.mit.edu	37	16	4382347	4382347	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4382347G>C	uc002cwc.1	+	1	123	c.66G>C	c.(64-66)GAG>GAC	p.E22D		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	22					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CGGCAAGAGAGAAGCGGGAGA	0.682		NaN											0	0	0	0.001855	0	10	40				
CORO7	79585	broad.mit.edu	37	16	4412079	4412079	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4412079G>A	uc002cwh.3	-	16	1605	c.1485C>T	c.(1483-1485)CTC>CTT	p.L495L	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.L495L|CORO7_uc002cwg.3_Silent_p.L275L|CORO7_uc010uxh.1_Silent_p.L477L|CORO7_uc010uxi.1_Silent_p.L410L|CORO7_uc002cwi.1_Silent_p.L275L|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Silent_p.L275L	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	495						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CAGGTGTGGTGAGGTTGAGCC	0.642		NaN											0	0	0	0.008871	0	12	46				
PPL	5493	broad.mit.edu	37	16	4933745	4933745	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:4933745C>T	uc002cyd.1	-	22	5001	c.4911G>A	c.(4909-4911)CAG>CAA	p.Q1637Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1637	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCAGGCGCTTCTGCAGCTCGT	0.632		NaN											0	0	0	0.007413	0	16	53				
RSL1D1	26156	broad.mit.edu	37	16	11940562	11940562	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:11940562G>C	uc002dbp.1	-	4	596	c.523C>G	c.(523-525)CAA>GAA	p.Q175E	RSL1D1_uc010buv.1_Missense_Mutation_p.Q175E|RSL1D1_uc010uyw.1_Translation_Start_Site|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	175					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						TTCTTTCTTTGATAGAAATGT	0.413		NaN											0	0	0	0.01441	0	85	262				
EARS2	124454	broad.mit.edu	37	16	23543988	23543988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23543988C>T	uc002dlt.3	-	5	1089	c.1057G>A	c.(1057-1059)GAA>AAA	p.E353K	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.E353K	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	353					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTGTTGAATTCTGGGAGCTTC	0.512		NaN											0	0	0	0.003163	0	15	48				
DCTN5	84516	broad.mit.edu	37	16	23669929	23669929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23669929C>G	uc002dly.1	+	3	276	c.219C>G	c.(217-219)TTC>TTG	p.F73L		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	73						centrosome	transferase activity			upper_aerodigestive_tract(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		GGCCACCATTCAAGAAGTTCA	0.423		NaN											0	0	0	0.004878	0	36	109				
ERN2	10595	broad.mit.edu	37	16	23706204	23706204	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:23706204C>G	uc002dma.3	-	17	2258	c.2089G>C	c.(2089-2091)GAC>CAC	p.D697H	ERN2_uc010bxp.2_Missense_Mutation_p.D645H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	649	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTGGCTGTCAGGCCCGGTG	0.627		NaN											0	0	0	0.003163	0	15	48				
SEZ6L2	26470	broad.mit.edu	37	16	29883590	29883590	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:29883590G>A	uc002duq.3	-	16	2861	c.2621C>T	c.(2620-2622)TCC>TTC	p.S874F	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.S817F|SEZ6L2_uc002dur.3_Missense_Mutation_p.S804F|SEZ6L2_uc002dus.3_Missense_Mutation_p.S773F|SEZ6L2_uc010vec.1_Missense_Mutation_p.S887F|SEZ6L2_uc010ved.1_Missense_Mutation_p.S843F	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	874	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GCCGAAAAGGGACTTTCCCTG	0.602		NaN											0	0	0	0.013537	0	11	54				
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:31195651C>T	uc002ebf.2	+	5	540	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	FUS_uc002ebe.1_Nonsense_Mutation_p.Q153*|FUS_uc002ebh.2_Nonsense_Mutation_p.Q152*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Q153*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	153	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.453		NaN	T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								0	0	0	0.012213	0	33	109				
ADCY7	113	broad.mit.edu	37	16	50346030	50346030	+	Silent	SNP	G	G	A	rs138338317	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50346030G>A	uc002egd.1	+	20	2800	c.2532G>A	c.(2530-2532)GTG>GTA	p.V844V		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	844	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGAGAACGTGAACCGCCTTC	0.552		NaN											0	0	0	0.006999	0	39	93				
BRD7	29117	broad.mit.edu	37	16	50384019	50384019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:50384019G>C	uc002egf.1	-	6	573	c.506C>G	c.(505-507)TCC>TGC	p.S169C	BRD7_uc002ege.1_Missense_Mutation_p.S169C	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	169	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				AATGATCATGGAGTAGCCAGG	0.328		NaN											0	0	0	0.014323	0	24	77				
RSPRY1	89970	broad.mit.edu	37	16	57269103	57269103	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269103G>A	uc002elb.2	+	14	1875	c.1597G>A	c.(1597-1599)GAG>AAG	p.E533K	RSPRY1_uc002elc.2_Missense_Mutation_p.E533K|RSPRY1_uc002eld.2_Missense_Mutation_p.E533K	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	533	RING-type.					extracellular region	zinc ion binding			ovary(1)	1						TTGTTGTGATGAGGTAGCAGA	0.403		NaN											0	0	0	0.00499	0	15	44				
RSPRY1	89970	broad.mit.edu	37	16	57269112	57269112	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57269112G>A	uc002elb.2	+	14	1884	c.1606G>A	c.(1606-1608)GAC>AAC	p.D536N	RSPRY1_uc002elc.2_Missense_Mutation_p.D536N|RSPRY1_uc002eld.2_Missense_Mutation_p.D536N	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	536	RING-type.					extracellular region	zinc ion binding			ovary(1)	1						TGAGGTAGCAGACACACAATT	0.423		NaN											0	0	0	0.00245	0	12	43				
ARL2BP	23568	broad.mit.edu	37	16	57283691	57283691	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57283691G>A	uc002elf.1	+	4	462	c.220G>A	c.(220-222)GAA>AAA	p.E74K	ARL2BP_uc010vhl.1_Missense_Mutation_p.E74K	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN	binder of Arl Two	74				E->A: Decreases interaction with ARL2.	maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity				0						TTCTTTGGTAGAAAAATACAT	0.418		NaN											0	0	0	0.012319	0	21	118				
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:57918280C>T	uc002emt.2	-	33	3609	c.3544G>A	c.(3544-3546)GAC>AAC	p.D1182N	CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1182	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GCGGGTGGGTCGGTGGCGGCC	0.721		NaN											0	0	0	0.006214	0	9	31				
ZDHHC1	29800	broad.mit.edu	37	16	67428988	67428988	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67428988G>C	uc010vjm.1	-	10	1451	c.1147C>G	c.(1147-1149)CAG>GAG	p.Q383E	TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	383						integral to membrane	DNA binding|zinc ion binding				0		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GGGGGAGCCTGAGGGCCCCAC	0.617		NaN											0	0	0	0.000602	0	4	28				
CTCF	10664	broad.mit.edu	37	16	67662356	67662356	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:67662356G>A	uc002etl.2	+	9	1892	c.1602G>A	c.(1600-1602)CAG>CAA	p.Q534Q	CTCF_uc010cek.2_Silent_p.Q206Q|CTCF_uc002etm.1_Silent_p.Q23Q	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	534	C2H2-type 10.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCTTCCGCCAGAAGCAGCTTC	0.557		NaN											0	0	0	0.008361	0	29	87				
VAC14	55697	broad.mit.edu	37	16	70817025	70817025	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:70817025C>G	uc002ezm.2	-	7	980	c.722G>C	c.(721-723)GGA>GCA	p.G241A	VAC14_uc010cfw.2_Missense_Mutation_p.G7A|VAC14_uc002ezn.2_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	241	HEAT 4.				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				TAAGAATTCTCCAAGAACAAC	0.498		NaN											0	0	0	0.00623	0	36	109				
CHST6	4166	broad.mit.edu	37	16	75512842	75512842	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:75512842G>A	uc002fef.2	-	3	1065	c.885C>T	c.(883-885)CTC>CTT	p.L295L	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L295L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	295	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCTGTGGCGTGAGACTGAGCC	0.647		NaN											0	0	0	0.003163	0	14	58				
PLCG2	5336	broad.mit.edu	37	16	81934316	81934316	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:81934316G>A	uc002fgt.2	+	14	1445	c.1293G>A	c.(1291-1293)ACG>ACA	p.T431T	PLCG2_uc010chg.1_Silent_p.T431T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	431	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TGCTGTTGACGAAGCCCACGG	0.612		NaN											0	0	0	0.007413	0	19	54				
SPG7	6687	broad.mit.edu	37	16	89598329	89598329	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89598329C>G	uc002fnj.2	+	8	1026	c.1005C>G	c.(1003-1005)CTC>CTG	p.L335L	SPG7_uc002fni.2_Silent_p.L335L	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	335	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AACGCTTCCTCCAGCTTGGCG	0.532		NaN											0	0	0	0.001984	0	6	59				
TUBB3	10381	broad.mit.edu	37	16	89998985	89998985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr16:89998985G>A	uc002fph.1	+	2	129	c.64G>A	c.(64-66)GAA>AAA	p.E22K	TUBB3_uc002fpf.2_Missense_Mutation_p.E369K|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	22					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCAGTTCTGGGAAGTCATCAG	0.587		NaN											0	0	0	0.003163	0	14	53				
TRPV3	162514	broad.mit.edu	37	17	3458046	3458046	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:3458046C>T	uc002fvt.1	-	2	421	c.99G>A	c.(97-99)GAG>GAA	p.E33E	TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.E33E|TRPV3_uc002fvu.2_Silent_p.E33E	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	33	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGGGGGTGATCTCCGCCGGCC	0.657		NaN											0	0	0	0.008871	0	19	68				
ALOX15	246	broad.mit.edu	37	17	4544957	4544957	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4544957G>C	uc002fyh.2	-	1	4	c.-10C>G	c.(-12--8)ATCTT>ATGTT		ALOX15_uc010vsd.1_Translation_Start_Site|ALOX15_uc010vse.1_Missense_Mutation_p.S19C	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CTTGCTCAAAGATGTTTCGCT	0.612		NaN											0	0	0	0.00245	0	15	52				
CAMTA2	23125	broad.mit.edu	37	17	4877697	4877697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4877697C>T	uc002gah.1	-	12	2107	c.1999G>A	c.(1999-2001)GAT>AAT	p.D667N	CAMTA2_uc010cku.1_Missense_Mutation_p.D690N|CAMTA2_uc002gag.1_Missense_Mutation_p.D666N|CAMTA2_uc002gai.1_Missense_Mutation_p.D669N|CAMTA2_uc010ckv.1_Missense_Mutation_p.D314N	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	667					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGAGGAGCATCAGGACCCTGG	0.572		NaN											0	0	0	0.014323	0	21	103				
KIF1C	10749	broad.mit.edu	37	17	4904541	4904541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4904541C>T	uc002gan.1	+	5	534	c.208C>T	c.(208-210)CAG>TAG	p.Q70*		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	70	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GTTTGCATCTCAGCAGCAAGT	0.527		NaN											0	0	0	0.004289	0	35	117				
KIF1C	10749	broad.mit.edu	37	17	4905849	4905849	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4905849C>T	uc002gan.1	+	7	846	c.520C>T	c.(520-522)CTG>TTG	p.L174L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	174	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GCACCCCATCCTGGGCCCGTA	0.577		NaN											0	0	0	0.013114	0	46	174				
KIF1C	10749	broad.mit.edu	37	17	4925875	4925875	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:4925875C>G	uc002gan.1	+	22	2825	c.2499C>G	c.(2497-2499)CTC>CTG	p.L833L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	833	Potential.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						TGGAGGACCTCCGGGCCCACA	0.672		NaN											0	0	0	0.000602	0	5	12				
STX8	9482	broad.mit.edu	37	17	9448576	9448576	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:9448576C>T	uc002glx.2	-	4	386	c.236G>A	c.(235-237)AGA>AAA	p.R79K		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	79	Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						GAGGTTCTGTCTTCGGTCCCC	0.398		NaN											0	0	0	0.009535	0	26	102				
DNAH9	1770	broad.mit.edu	37	17	11865486	11865486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:11865486G>C	uc002gne.2	+	68	13214	c.13146G>C	c.(13144-13146)AAG>AAC	p.K4382N	DNAH9_uc010coo.2_Missense_Mutation_p.K3600N|DNAH9_uc002gnf.2_Missense_Mutation_p.K694N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4382					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATGACGAAGAAGAACAGAG	0.547		NaN											0	0	0	0.010504	0	21	82				
FLCN	201163	broad.mit.edu	37	17	17116970	17116970	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:17116970C>G	uc002gra.3	-	14	2243	c.1739G>C	c.(1738-1740)TGA>TCA	p.*580S	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	580					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						TGTGACGGGTCAGTTCCGAGA	0.582		NaN							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				0	0	0	0.013726	0	33	104				
ULK2	9706	broad.mit.edu	37	17	19689261	19689261	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:19689261C>G	uc002gwm.3	-	21	2749	c.2240G>C	c.(2239-2241)AGA>ACA	p.R747T	ULK2_uc002gwn.2_Missense_Mutation_p.R747T	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	747					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGAGGTTGTTCTTGTTCGAAG	0.408		NaN											0	0	0	0.007413	0	18	58				
KIAA0100	9703	broad.mit.edu	37	17	26945942	26945942	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:26945942C>T	uc002hbu.2	-	32	5789	c.5690G>A	c.(5689-5691)CGA>CAA	p.R1897Q	KIAA0100_uc002hbt.2_Missense_Mutation_p.R226Q	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1897						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TTGCTGCTTTCGCAGCTCCAT	0.527		NaN											0	0	0	0.014323	0	18	71				
CORO6	84940	broad.mit.edu	37	17	27945892	27945892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:27945892C>T	uc002hel.2	-	4	551	c.549G>A	c.(547-549)TGG>TGA	p.W183*	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	183	WD 3.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CGTTGCTGTTCCAGCACACAC	0.577		NaN											0	0	0	0.014323	0	24	75				
RAB11FIP4	84440	broad.mit.edu	37	17	29850554	29850554	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:29850554C>A	uc002hgn.1	+	8	1183	c.954C>A	c.(952-954)TTC>TTA	p.F318L	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.F216L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	318	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCAGCAACTTCAGCAGCAGCA	0.602		NaN											1	0	6.84511e-11	0.003271	7.02684e-11	34	113				
SPACA3	124912	broad.mit.edu	37	17	31318969	31318969	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:31318969C>T	uc002hhs.1	+	1	88	c.13C>T	c.(13-15)CTG>TTG	p.L5L	SPACA3_uc010cte.1_5'Flank	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	5	Cytoplasmic (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGTCTCAGCTCTGCGGGGAGC	0.607		NaN											0	0	0	0.00308	0	4	33				
UNC45B	146862	broad.mit.edu	37	17	33507615	33507615	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:33507615G>A	uc002hja.2	+	18	2396	c.2299G>A	c.(2299-2301)GAG>AAG	p.E767K	UNC45B_uc002hjb.2_Missense_Mutation_p.E765K|UNC45B_uc002hjc.2_Missense_Mutation_p.E765K|UNC45B_uc010cto.2_Missense_Mutation_p.E686K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	767	ARM 3.				cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GCCAGACATCGAGAACTACAT	0.547		NaN											0	0	0	0.004007	0	15	66				
CCL3	6348	broad.mit.edu	37	17	34416051	34416051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:34416051C>G	uc002hkv.2	-	3	348	c.246G>C	c.(244-246)CAG>CAC	p.Q82H		NM_002983	NP_002974	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	82					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACATATTTCTGGACCCACT	0.617		NaN											0	0	0	0.010771	0	43	161				
DUSP14	11072	broad.mit.edu	37	17	35872727	35872727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:35872727C>G	uc002hnx.2	+	3	647	c.353C>G	c.(352-354)TCA>TGA	p.S118*	DUSP14_uc002hny.2_Nonsense_Mutation_p.S105*|DUSP14_uc002hnz.2_Nonsense_Mutation_p.S105*	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	118	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				GTGAGCCGCTCAGCCACGCTG	0.592		NaN											0	0	0	0.003163	0	13	63				
CDK12	51755	broad.mit.edu	37	17	37618767	37618767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37618767C>T	uc010cvv.2	+	1	1029	c.443C>T	c.(442-444)TCG>TTG	p.S148L	CDK12_uc010wef.1_Missense_Mutation_p.S148L|CDK12_uc002hrw.3_Missense_Mutation_p.S148L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	148					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GACCGGATATCGGGAAGTTCA	0.502		NaN								TCGA Ovarian(9;0.13)			0	0	0	0.008871	0	21	77				
ERBB2	2064	broad.mit.edu	37	17	37884259	37884259	+	Missense_Mutation	SNP	G	G	C	rs144533600	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:37884259G>C	uc002hso.2	+	27	3968	c.3730G>C	c.(3730-3732)GAG>CAG	p.E1244Q	ERBB2_uc002hsm.2_Missense_Mutation_p.E1214Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1229Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E1047Q|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.E968Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1244	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACCTACGGCAGAGAACCCAGA	0.607		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.003954	0	22	66		Valid		
CASC3	22794	broad.mit.edu	37	17	38319905	38319905	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38319905C>T	uc010cwt.1	+	7	1252	c.957C>T	c.(955-957)TTC>TTT	p.F319F	CASC3_uc010cws.1_Silent_p.F319F|CASC3_uc002hue.2_Silent_p.F319F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	319					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGGGGGCTTCAAGGAAGGTC	0.547		NaN											0	0	0	0.01441	0	96	330				
RARA	5914	broad.mit.edu	37	17	38512341	38512341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38512341G>A	uc002huk.1	+	9	1707	c.1252G>A	c.(1252-1254)GAG>AAG	p.E418K	RARA_uc002hul.3_Missense_Mutation_p.E418K|RARA_uc010wfe.1_Missense_Mutation_p.E321K|RARA_uc002hun.1_Missense_Mutation_p.E413K	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	418	Ligand-binding.|Required for binding corepressor NCOR1.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGAGAACTCAGAGGGCCTGGA	0.617		NaN	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								0	0	0	0.004672	0	3	20				
CCR7	1236	broad.mit.edu	37	17	38711549	38711549	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:38711549G>C	uc002huw.2	-	3	645	c.582C>G	c.(580-582)CTC>CTG	p.L194L		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	194	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				CACTGTACAGGAGCTCTGGGA	0.582		NaN											0	0	0	0.012319	0	20	34				
KRT31	3881	broad.mit.edu	37	17	39550344	39550344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:39550344G>C	uc002hwn.2	-	7	1228	c.1175C>G	c.(1174-1176)TCT>TGT	p.S392C	KRT31_uc010cxn.2_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	392	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				AGGGACACAAGAGGTACAGGG	0.612		NaN											0	0	0	0.010818	0	33	108				
DHX58	79132	broad.mit.edu	37	17	40260106	40260106	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40260106C>T	uc002hyw.3	-	7	922	c.699G>A	c.(697-699)CTG>CTA	p.L233L	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.L226L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	233					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGAGCTTCTTCAGCAAGTCCC	0.562		NaN											0	0	0	0.007413	0	17	70				
GHDC	84514	broad.mit.edu	37	17	40345373	40345373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40345373C>T	uc002hzd.2	-	2	711	c.227G>A	c.(226-228)GGA>GAA	p.G76E	GHDC_uc002hzg.1_Missense_Mutation_p.G76E|GHDC_uc010wgg.1_Missense_Mutation_p.G76E|GHDC_uc002hze.3_Missense_Mutation_p.G76E|GHDC_uc002hzf.3_Missense_Mutation_p.G76E|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	76						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCGCTGGGCTCCCTGTAGACA	0.647		NaN											0	0	0	0.001168	0	4	12				
ATP6V0A1	535	broad.mit.edu	37	17	40622219	40622219	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40622219C>A	uc002hzr.2	+	5	573	c.406C>A	c.(406-408)CAG>AAG	p.Q136K	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc010wgj.1_Intron|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_5'UTR|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.Q136K	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	136	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCGCAAAACTCAGCAATTTTT	0.338		NaN											1	0	5.18039e-06	0.00308	5.2655e-06	8	37				
MLX	6945	broad.mit.edu	37	17	40722180	40722180	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:40722180C>G	uc002iag.2	+	7	884	c.819C>G	c.(817-819)ATC>ATG	p.I273M	MLX_uc002iaf.2_Missense_Mutation_p.I219M|MLX_uc002iah.2_Missense_Mutation_p.I189M	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	273					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCAGCTGGATCGAGGAGCACT	0.532		NaN											0	0	0	0.010729	0	11	66				
ARL4D	379	broad.mit.edu	37	17	41477529	41477529	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:41477529G>A	uc002idt.2	+	2	610	c.429G>A	c.(427-429)CTG>CTA	p.L143L		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	143					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGGGGCACTGAGCGCTGCTG	0.657		NaN											0	0	0	0.001168	0	6	11				
ITGB3	3690	broad.mit.edu	37	17	45384893	45384893	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:45384893C>G	uc002ilj.2	+	14	2211	c.2191C>G	c.(2191-2193)CTG>GTG	p.L731V	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	731	Helical; (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	GGGGGCCATTCTGCTCATTGG	0.547		NaN											0	0	0	0.006122	0	18	53				
SKAP1	8631	broad.mit.edu	37	17	46239837	46239837	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:46239837C>G	uc002ini.1	-	11	1084	c.972G>C	c.(970-972)CTG>CTC	p.L324L	SKAP1_uc002inj.1_Silent_p.L323L|SKAP1_uc010dbd.1_Silent_p.L229L|SKAP1_uc010dbe.1_Silent_p.L324L	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	324	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						TTACCTTGCTCAGAATACGGA	0.433		NaN											0	0	0	0.006214	0	10	43				
SFRS1	6426	broad.mit.edu	37	17	56083263	56083263	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:56083263C>G	uc002ivi.2	-	3	660	c.451G>C	c.(451-453)GAT>CAT	p.D151H	SFRS1_uc002ivj.2_Missense_Mutation_p.D151H	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	151	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		CGGTAAACATCAGCATAACAT	0.403		NaN											0	0	0	0.006122	0	17	87				
HEATR6	63897	broad.mit.edu	37	17	58156203	58156203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:58156203C>G	uc002iyk.1	-	1	90	c.73G>C	c.(73-75)GAG>CAG	p.E25Q		NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	25							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGCCTCGCTCAGGGATTGCT	0.662		NaN											0	0	0	0.000602	0	4	19				
MED13	9969	broad.mit.edu	37	17	60072581	60072581	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:60072581C>T	uc002izo.2	-	10	2190	c.2113G>A	c.(2113-2115)GAG>AAG	p.E705K		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	705					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AGGAATTCCTCATCTCCTTCA	0.358		NaN											0	0	0	0.01441	0	51	118				
CCDC47	57003	broad.mit.edu	37	17	61842116	61842116	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:61842116G>A	uc002jbs.3	-	3	692	c.356C>T	c.(355-357)CCA>CTA	p.P119L	CCDC47_uc010ddx.2_Missense_Mutation_p.P119L|CCDC47_uc002jbt.2_Missense_Mutation_p.P119L	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	119						integral to membrane	protein binding				0						AATCGTTATTGGGTCTTTATT	0.338		NaN											0	0	0	0.012213	0	32	96				
TEX2	55852	broad.mit.edu	37	17	62290676	62290676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62290676G>C	uc002jec.2	-	2	1075	c.902C>G	c.(901-903)CCT>CGT	p.P301R	TEX2_uc002jed.2_Missense_Mutation_p.P301R|TEX2_uc002jee.2_Missense_Mutation_p.P301R	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	301					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAGCTGAAAAGGCTCATAGAT	0.433		NaN											0	0	0	0.012319	0	22	55				
POLG2	11232	broad.mit.edu	37	17	62493011	62493011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:62493011C>G	uc002jei.2	-	1	159	c.76G>C	c.(76-78)GAT>CAT	p.D26H	POLG2_uc010deg.1_Missense_Mutation_p.D26H	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	26					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TGCCCCGCATCTACTCGACCC	0.612		NaN											0	0	0	0.009718	0	39	109				
SLC16A6	9120	broad.mit.edu	37	17	66270075	66270075	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66270075G>A	uc002jgz.1	-	3	557	c.369C>T	c.(367-369)ATC>ATT	p.I123I	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I123I	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	123	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TACCAGAGATGATGCCGATGG	0.483		NaN											0	0	0	0.008871	0	17	49				
ABCA8	10351	broad.mit.edu	37	17	66914280	66914280	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:66914280C>G	uc002jhp.2	-	14	2014	c.1835G>C	c.(1834-1836)AGA>ACA	p.R612T	ABCA8_uc002jhq.2_Missense_Mutation_p.R652T|ABCA8_uc010wqq.1_Missense_Mutation_p.R652T|ABCA8_uc010wqr.1_Missense_Mutation_p.R591T|ABCA8_uc002jhr.2_Missense_Mutation_p.R652T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	612	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TACTTGGTGTCTTGAAAAGGG	0.458		NaN											0	0	0	0.004007	0	16	71				
ABCA10	10349	broad.mit.edu	37	17	67187420	67187420	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:67187420G>C	uc010dfa.1	-	18	2787	c.1908C>G	c.(1906-1908)ATC>ATG	p.I636M	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.I237M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	636					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TAAGGGATGTGATTTTTTCTG	0.338		NaN											0	0	0	0.014323	0	23	68				
OTOP2	92736	broad.mit.edu	37	17	72929594	72929594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72929594G>A	uc010wrp.1	+	8	1732	c.1643G>A	c.(1642-1644)CGC>CAC	p.R548H	OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	548						integral to membrane		p.R548C(1)		ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTTCTACCGCATGCACGCT	0.607		NaN											0	0	0	0.00632	0	29	88				
C17orf28	283987	broad.mit.edu	37	17	72948414	72948414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:72948414C>T	uc002jmj.3	-	17	2243	c.2094G>A	c.(2092-2094)ATG>ATA	p.M698I	C17orf28_uc002jmi.2_Missense_Mutation_p.M100I|C17orf28_uc010wrs.1_Missense_Mutation_p.M497I	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	698						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GCAGCAGCCTCATGATGGTCT	0.498		NaN											0	0	0	0.00499	0	10	21				
TK1	7083	broad.mit.edu	37	17	76171137	76171137	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171137C>T	uc002juw.2	-	6	717	c.507G>A	c.(505-507)GAG>GAA	p.E169E	TK1_uc002jux.2_Silent_p.E211E	NM_003258	NP_003249	P04183	KITH_HUMAN	thymidine kinase 1	169					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			CTACCTCCTTCTCTGTGCCGA	0.662		NaN											0	0	0	0.001855	0	12	18				
TK1	7083	broad.mit.edu	37	17	76171139	76171139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:76171139C>T	uc002juw.2	-	6	715	c.505G>A	c.(505-507)GAG>AAG	p.E169K	TK1_uc002jux.2_Missense_Mutation_p.E211K	NM_003258	NP_003249	P04183	KITH_HUMAN	thymidine kinase 1	169					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			ACCTCCTTCTCTGTGCCGAGC	0.657		NaN											0	0	0	0.001855	0	12	18				
RNF213	57674	broad.mit.edu	37	17	78353431	78353431	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:78353431G>A	uc002jyh.1	+	30	7999	c.7776G>A	c.(7774-7776)CCG>CCA	p.P2592P	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.P974P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGCAGGCCGATGGAACAGA	0.502		NaN											0	0	0	0.00623	0	26	93				
SLC38A10	124565	broad.mit.edu	37	17	79226054	79226054	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:79226054C>A	uc002jzz.1	-	13	2261	c.1886G>T	c.(1885-1887)GGA>GTA	p.G629V	SLC38A10_uc002jzy.1_Missense_Mutation_p.G547V|SLC38A10_uc002kab.2_Missense_Mutation_p.G629V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	629					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGGCGGTCCCCCCTTGGC	0.711		NaN											1	0	7.45023e-12	0.010504	7.66498e-12	20	64				
RAB40B	10966	broad.mit.edu	37	17	80616472	80616472	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr17:80616472C>G	uc002kft.2	-	5	586	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGCTGACCTCAAAGAAGGTC	0.652		NaN											0	0	0	0.003271	0	34	82				
METTL4	64863	broad.mit.edu	37	18	2547371	2547371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2547371C>G	uc002klh.3	-	6	1837	c.1057G>C	c.(1057-1059)GAG>CAG	p.E353Q	METTL4_uc010dkj.2_Missense_Mutation_p.E150Q	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	353					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						CAGTGCCACTCAGCAACTACC	0.388		NaN											0	0	0	0.013726	0	34	93				
EMILIN2	84034	broad.mit.edu	37	18	2892354	2892354	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:2892354G>A	uc002kln.2	+	4	2388	c.2229G>A	c.(2227-2229)CAG>CAA	p.Q743Q		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	743					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		GTGTCAGGCAGATGAACGGAA	0.493		NaN											0	0	0	0.008871	0	20	61				
DLGAP1	9229	broad.mit.edu	37	18	3508616	3508616	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:3508616G>C	uc002kmf.2	-	8	2590	c.2523C>G	c.(2521-2523)CTC>CTG	p.L841L	DLGAP1_uc010wyz.1_Silent_p.L841L|DLGAP1_uc002kme.1_Silent_p.L539L|DLGAP1_uc010dkn.2_Silent_p.L549L|DLGAP1_uc010wyw.1_Silent_p.L547L|DLGAP1_uc010wyx.1_Silent_p.L563L|DLGAP1_uc010wyy.1_Silent_p.L525L|DLGAP1_uc002kmg.2_Silent_p.L539L	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	841					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TCTGGGCCATGAGAAGTTGGG	0.433		NaN											0	0	0	0.006122	0	15	60				
LAMA1	284217	broad.mit.edu	37	18	7023260	7023260	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:7023260C>T	uc002knm.2	-	19	2698	c.2604G>A	c.(2602-2604)GGG>GGA	p.G868G	LAMA1_uc010wzj.1_Silent_p.G344G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602		NaN											0	0	0	0.013537	0	13	47				
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:9255144G>A	uc002knv.2	+	9	2136	c.1879G>A	c.(1879-1881)GAA>AAA	p.E627K	ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	627						nucleus				ovary(2)|central_nervous_system(1)	3						AATAAAGGATGAAGATCATAG	0.184		NaN											0	0	0	0.00632	0	30	88				
ROCK1	6093	broad.mit.edu	37	18	18549123	18549123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:18549123C>G	uc002kte.2	-	24	3808	c.2867G>C	c.(2866-2868)AGA>ACA	p.R956T		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	956	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					ATTCTCTCTTCTTAATATTTC	0.323		NaN											0	0	0	0.008871	0	19	49				
MEP1B	4225	broad.mit.edu	37	18	29795197	29795197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:29795197G>A	uc002kxj.3	+	12	1779	c.1732G>A	c.(1732-1734)GAT>AAT	p.D578N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	578	Extracellular (Potential).|MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AAAAGGAGATGATGTTTATAT	0.348		NaN											0	0	0	0.004672	0	3	40				
NOL4	8715	broad.mit.edu	37	18	31709969	31709969	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:31709969C>G	uc010dmi.2	-	2	509	c.280G>C	c.(280-282)GAT>CAT	p.D94H	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Missense_Mutation_p.D20H|NOL4_uc010dmh.2_Missense_Mutation_p.D20H|NOL4_uc010xbu.1_Missense_Mutation_p.D94H|NOL4_uc002kxt.3_Missense_Mutation_p.D94H|NOL4_uc010xbw.1_5'UTR	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	94						nucleolus	RNA binding			ovary(3)	3						AGCTTCTCATCTACCCCTACG	0.353		NaN											0	0	0	0.007413	0	18	56				
ZNF397OS	100101467	broad.mit.edu	37	18	32833853	32833853	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:32833853C>T	uc002kym.2	-	4	1274	c.1046G>A	c.(1045-1047)AGA>AAA	p.R349K	ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_5'Flank|ZNF397OS_uc010xce.1_Missense_Mutation_p.R349K	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	349	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACTATGAATTCTCTGATGTCT	0.438		NaN											0	0	0	0.013726	0	33	138				
ATP5A1	498	broad.mit.edu	37	18	43669842	43669842	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:43669842C>T	uc002lbr.1	-	4	520	c.430G>A	c.(430-432)GAG>AAG	p.E144K	ATP5A1_uc010dnl.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbs.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbt.1_Missense_Mutation_p.E144K|ATP5A1_uc010xct.1_Missense_Mutation_p.E94K|ATP5A1_uc010dnm.1_RNA	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	144					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						AACAGCTCCTCACCAACTGGA	0.418		NaN											0	0	0	0.008871	0	19	78				
SMAD2	4087	broad.mit.edu	37	18	45368266	45368266	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:45368266G>C	uc002lcy.2	-	11	1584	c.1336C>G	c.(1336-1338)CTA>GTA	p.L446V	SMAD2_uc002lcz.2_Missense_Mutation_p.L446V|SMAD2_uc010xdc.1_Missense_Mutation_p.L416V	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	446	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						AACCACTGTAGAGGTCCATTC	0.408		NaN											0	0	0	0.008871	0	20	72				
SMAD4	4089	broad.mit.edu	37	18	48591846	48591846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr18:48591846G>A	uc010xdp.1	+	9	1547	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	SMAD4_uc002lfb.3_Missense_Mutation_p.E182K	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	337	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.E337E(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGTAGGAGAGACATTTAA	0.418		NaN							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.01441	0	45	121				
PRTN3	5657	broad.mit.edu	37	19	847830	847830	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:847830G>A	uc002lqa.1	+	5	656	c.632G>A	c.(631-633)GGC>GAC	p.G211D		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	211	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGTGATGGCATCATCCAA	0.612		NaN											0	0	0	0.009096	0	3	30				
SBNO2	22904	broad.mit.edu	37	19	1111584	1111584	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:1111584G>A	uc002lrk.3	-	24	2968	c.2730C>T	c.(2728-2730)CTC>CTT	p.L910L	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.L853L|SBNO2_uc010dse.2_Silent_p.L893L|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	910					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGGTGGTGAGGACACAGT	0.662		NaN											0	0	0	0.004672	0	3	9				
AP3D1	8943	broad.mit.edu	37	19	2116613	2116613	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:2116613C>T	uc002luz.2	-	17	2215	c.1992G>A	c.(1990-1992)GAG>GAA	p.E664E	AP3D1_uc002luy.2_Silent_p.E573E|AP3D1_uc002lva.2_Silent_p.E664E	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	664	Potential.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGAGCCAGCTCTTCCTCGT	0.692		NaN											0	0	0	0.001168	0	4	9				
MCOLN1	57192	broad.mit.edu	37	19	7591755	7591755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:7591755C>T	uc002mgo.2	+	4	639	c.514C>T	c.(514-516)CGA>TGA	p.R172*	MCOLN1_uc002mgp.2_Silent_p.T58T	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	172				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).	calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						GTACTACCACCGAGGCCACGT	0.607		NaN											0	0	0	0.005443	0	24	99				
TIMM44	10469	broad.mit.edu	37	19	8000015	8000015	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8000015C>G	uc002miz.2	-	4	330	c.328G>C	c.(328-330)GAA>CAA	p.E110Q	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	110					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CGCACGGTTTCTGACTCGATG	0.423		NaN											0	0	0	0.00308	0	8	17				
MARCH2	51257	broad.mit.edu	37	19	8503337	8503337	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8503337G>A	uc002mjv.2	+	6	1089	c.648G>A	c.(646-648)CTG>CTA	p.L216L	MARCH2_uc002mjw.2_Silent_p.L216L|MARCH2_uc002mjx.2_Silent_p.L146L	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	216					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AAGTTCGCCTGAAGATCCGGG	0.617		NaN											0	0	0	0.007291	0	30	75				
MUC16	94025	broad.mit.edu	37	19	8999056	8999056	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:8999056G>A	uc002mkp.2	-	57	40992	c.40788C>T	c.(40786-40788)TTC>TTT	p.F13596F	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F413F|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13598	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCGCTGTGTGAAACCTGCAT	0.537		NaN											0	0	0	0.001168	0	6	20				
ZNF562	54811	broad.mit.edu	37	19	9767306	9767306	+	Missense_Mutation	SNP	C	C	T	rs140829241		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:9767306C>T	uc010xks.1	-	5	428	c.265G>A	c.(265-267)GAA>AAA	p.E89K	ZNF562_uc002mly.2_Missense_Mutation_p.E89K|ZNF562_uc002mlx.2_Missense_Mutation_p.E17K|ZNF562_uc010xkt.1_Missense_Mutation_p.E52K|ZNF562_uc010xku.1_Missense_Mutation_p.E20K|ZNF562_uc010xkv.1_Missense_Mutation_p.E89K|ZNF562_uc010xkw.1_5'UTR	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTCCCATTCTGAAGTTAAG	0.328		NaN											0	0	0	0.010771	0	44	120				
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221062	10221062	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10221062G>A	uc002mna.2	+	9	885	c.885G>A	c.(883-885)GTG>GTA	p.V295V	PPAN-P2RY11_uc010xla.1_Silent_p.V295V|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.V295V|PPAN_uc002mnb.1_Silent_p.V242V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	295					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGGCAAAGTGATGTTCCACA	0.657		NaN											0	0	0	0.003163	0	14	31				
ATG4D	84971	broad.mit.edu	37	19	10657634	10657634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10657634G>A	uc002mov.2	+	4	733	c.613G>A	c.(613-615)GAG>AAG	p.E205K	ATG4D_uc010xlg.1_Missense_Mutation_p.E228K|ATG4D_uc010xlh.1_Missense_Mutation_p.E142K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	205					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTGCCCCTGAGCTGGAGCA	0.716		NaN											0	0	0	0.004482	0	9	15				
ATG4D	84971	broad.mit.edu	37	19	10663639	10663639	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10663639G>T	uc002mov.2	+	10	1441	c.1321G>T	c.(1321-1323)GAC>TAC	p.D441Y	ATG4D_uc010xlh.1_Missense_Mutation_p.D378Y|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.D108Y	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	441					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCACAGCCTGGACGACCTCTG	0.657		NaN											1	0	1.43246e-33	0.007835	1.49868e-33	34	96				
AP1M2	10053	broad.mit.edu	37	19	10692042	10692042	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:10692042C>T	uc002mpc.2	-	6	657	c.573G>A	c.(571-573)CTG>CTA	p.L191L	AP1M2_uc002mpd.2_Silent_p.L191L	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	191	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATTTCGCTCAGAAGGACGC	0.592		NaN									OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	14	30				
FBXW9	84261	broad.mit.edu	37	19	12805444	12805444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:12805444G>C	uc010dyx.2	-	3	612	c.612C>G	c.(610-612)ATC>ATG	p.I204M	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.I214M|FBXW9_uc002mun.1_Missense_Mutation_p.I51M	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	214							protein binding			ovary(1)	1						CTAAGGTCTTGATCAGAACCT	0.498		NaN											0	0	0	0.001984	0	5	52				
CACNA1A	773	broad.mit.edu	37	19	13409682	13409682	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:13409682C>T	uc010dze.2	-	19	3004	c.2768G>A	c.(2767-2769)CGA>CAA	p.R923Q	CACNA1A_uc010dzc.2_Missense_Mutation_p.R448Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R922Q|CACNA1A_uc010xne.1_Missense_Mutation_p.R451Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	923	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R923Q(1)		large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCCTTGCCTCGCTCGGCCTC	0.776		NaN											0	0	0	0.001984	0	6	21				
LPHN1	22859	broad.mit.edu	37	19	14269281	14269281	+	Missense_Mutation	SNP	C	C	T	rs146726289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14269281C>T	uc010xnn.1	-	13	2544	c.2248G>A	c.(2248-2250)GAA>AAA	p.E750K	LPHN1_uc010xno.1_Missense_Mutation_p.E745K|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	750	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGGCCTGCTTCGCCGGCCAGC	0.597		NaN											0	0	0	0.003163	0	16	45				
OR7A5	26659	broad.mit.edu	37	19	14938601	14938601	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:14938601C>G	uc002mzw.2	-	1	676	c.453G>C	c.(451-453)ATG>ATC	p.M151I	OR7A5_uc010xoa.1_Missense_Mutation_p.M151I	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						ACAGAGCACTCATGGTCCAGG	0.488		NaN											0	0	0	0.012319	0	23	55				
C19orf44	84167	broad.mit.edu	37	19	16611956	16611956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:16611956C>G	uc002neh.1	+	2	426	c.353C>G	c.(352-354)TCT>TGT	p.S118C	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S118C|C19orf44_uc002neg.2_Missense_Mutation_p.S118C|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	118											0						GACACGGAATCTGACTCAATG	0.552		NaN											0	0	0	0.010771	0	44	97				
F2RL3	9002	broad.mit.edu	37	19	17000940	17000940	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:17000940C>T	uc002nfa.2	+	2	841	c.666C>T	c.(664-666)CGC>CGT	p.R222R		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	222	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						GGCTGGCGCGCTCCGATCGCG	0.706		NaN											0	0	0	0.004482	0	8	18				
MPV17L2	84769	broad.mit.edu	37	19	18305832	18305832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:18305832G>C	uc002nid.2	+	4	552	c.500G>C	c.(499-501)CGA>CCA	p.R167P	MPV17L2_uc010ebj.2_Silent_p.S77S	NM_032683	NP_116072	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	167						integral to membrane					0						CCCCAATTTCGAGTCACCTAC	0.502		NaN											0	0	0	0.012213	0	26	96				
CILP2	148113	broad.mit.edu	37	19	19651906	19651906	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:19651906C>G	uc002nmv.3	+	4	528	c.443C>G	c.(442-444)TCG>TGG	p.S148W	CILP2_uc002nmw.3_Missense_Mutation_p.S154W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	148	TSP type-1.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCAGAAGCCTCGTGGGGCGCG	0.716		NaN											0	0	0	0.000602	0	5	3				
ZNF507	22847	broad.mit.edu	37	19	32844356	32844356	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:32844356G>T	uc002nte.2	+	3	892	c.620G>T	c.(619-621)AGA>ATA	p.R207I	ZNF507_uc002ntc.2_Missense_Mutation_p.R207I|ZNF507_uc010xrn.1_Missense_Mutation_p.R207I|ZNF507_uc002ntd.2_Missense_Mutation_p.R207I	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					ACCACAGAAAGAAATGAAACC	0.458		NaN											1	0	3.5997e-14	0.014323	3.71169e-14	24	64				
KIRREL2	84063	broad.mit.edu	37	19	36349402	36349402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349402G>A	uc002ocb.3	+	3	516	c.304G>A	c.(304-306)GAA>AAA	p.E102K	KIRREL2_uc002obz.3_Missense_Mutation_p.E102K|KIRREL2_uc002oca.3_Missense_Mutation_p.E52K|KIRREL2_uc002occ.3_Missense_Mutation_p.E49K|KIRREL2_uc002ocd.3_Missense_Mutation_p.E99K	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	102	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCATCATATGAATGTCAGGC	0.592		NaN											0	0	0	0.008871	0	20	98				
KIRREL2	84063	broad.mit.edu	37	19	36349660	36349660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:36349660G>C	uc002ocb.3	+	4	628	c.416G>C	c.(415-417)GGA>GCA	p.G139A	KIRREL2_uc002obz.3_Missense_Mutation_p.G139A|KIRREL2_uc002oca.3_Missense_Mutation_p.G89A|KIRREL2_uc002occ.3_Missense_Mutation_p.G86A|KIRREL2_uc002ocd.3_Missense_Mutation_p.G136A	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	139	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGTTGCTGGAGTTCCTGCG	0.617		NaN											0	0	0	0.004289	0	34	118				
ZNF461	92283	broad.mit.edu	37	19	37130933	37130933	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:37130933C>G	uc002oem.2	-	6	542	c.314G>C	c.(313-315)AGA>ACA	p.R105T	ZNF461_uc002oen.2_Missense_Mutation_p.R74T|ZNF461_uc010xtj.1_Missense_Mutation_p.R82T	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGCTCATCTCTGGATGCCAA	0.343		NaN											0	0	0	0.014323	0	23	83				
GGN	199720	broad.mit.edu	37	19	38877342	38877342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:38877342C>T	uc002oij.1	-	3	695	c.560G>A	c.(559-561)AGA>AAA	p.R187K	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R104K	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	187	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAGTGATTCTGCGGTCCGC	0.692		NaN											0	0	0	0.000602	0	4	7				
RYR1	6261	broad.mit.edu	37	19	39008108	39008108	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39008108G>A	uc002oit.2	+	66	9925	c.9795G>A	c.(9793-9795)GAG>GAA	p.E3265E	RYR1_uc002oiu.2_Silent_p.E3265E|RYR1_uc002oiv.1_Silent_p.E185E|RYR1_uc010xuf.1_Silent_p.E185E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3265					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTACACAGAGATGCCGCATG	0.672		NaN											0	0	0	0.004007	0	16	45				
RYR1	6261	broad.mit.edu	37	19	39061261	39061261	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:39061261G>A	uc002oit.2	+	94	13804	c.13674G>A	c.(13672-13674)CGG>CGA	p.R4558R	RYR1_uc002oiu.2_Silent_p.R4553R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4558			R -> Q (in CCD; autosomal recessive form).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTGTCCCGGAACTTTTACA	0.483		NaN											0	0	0	0.009718	0	39	144				
HNRNPUL1	11100	broad.mit.edu	37	19	41770632	41770632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41770632C>T	uc002oqb.3	+	1	513	c.224C>T	c.(223-225)ACC>ATC	p.T75I	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.T75I|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	75	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CTGGAGGGGACCGCGCAGCCA	0.766		NaN											0	0	0	0.000602	0	4	3				
EXOSC5	56915	broad.mit.edu	37	19	41892596	41892596	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:41892596G>C	uc002oqo.2	-	6	673	c.650C>G	c.(649-651)TCG>TGG	p.S217W	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	217					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0						GACGTGTTGCGAAGCGGCCTG	0.662		NaN											0	0	0	0.000602	0	5	9				
PSG3	5671	broad.mit.edu	37	19	43233301	43233301	+	Missense_Mutation	SNP	G	G	C	rs141177217	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:43233301G>C	uc002oue.2	-	5	1349	c.1217C>G	c.(1216-1218)TCC>TGC	p.S406C	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S406C|PSG3_uc010eil.2_Missense_Mutation_p.S428C	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	406	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CATGGATTTGGAGCTTTCCAT	0.473		NaN											0	0	0	0.01441	0	67	259				
LYPD5	284348	broad.mit.edu	37	19	44301925	44301925	+	Missense_Mutation	SNP	C	C	T	rs114185213	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44301925C>T	uc002oxm.3	-	5	655	c.574G>A	c.(574-576)GAG>AAG	p.E192K	LYPD5_uc002oxn.3_Missense_Mutation_p.E149K	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5 isoform A	192	UPAR/Ly6.					anchored to membrane|plasma membrane					0		Prostate(69;0.0352)				GTGGTGCCCTCGGTGGTGCAG	0.612		NaN											0	0	0	0.008291	0	11	57				
ZNF222	7673	broad.mit.edu	37	19	44537161	44537161	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44537161C>G	uc002oyc.2	+	4	1517	c.1334C>G	c.(1333-1335)TCA>TGA	p.S445*	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S485*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S391*	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				ATAATTTTATCAttattttta	0.219		NaN											0	0	0	0.001168	0	6	31				
ZNF227	7770	broad.mit.edu	37	19	44739461	44739461	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:44739461G>A	uc002oyu.2	+	6	1083	c.878G>A	c.(877-879)GGA>GAA	p.G293E	ZNF227_uc010xwu.1_Missense_Mutation_p.G242E|ZNF227_uc002oyv.2_Missense_Mutation_p.G293E|ZNF227_uc010xwv.1_Missense_Mutation_p.G242E|ZNF227_uc010xww.1_Missense_Mutation_p.G214E|ZNF227_uc002oyw.2_Missense_Mutation_p.G265E|ZNF227_uc010ejh.2_Missense_Mutation_p.G286E|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				ATTCACCCAGGAGAGAAACTC	0.398		NaN											0	0	0	0.00499	0	18	43				
NKPD1	284353	broad.mit.edu	37	19	45655522	45655522	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45655522G>A	uc010xxi.1	-	4	2173	c.2173C>T	c.(2173-2175)CTG>TTG	p.L725L		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCGGCGCCCAGGAAGCGCTCG	0.672		NaN											0	0	0	0.001168	0	5	11				
KCNJ14	3770	broad.mit.edu	37	19	48967834	48967834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:48967834G>C	uc002pje.1	+	3	1516	c.1111G>C	c.(1111-1113)GAG>CAG	p.E371Q	KCNJ14_uc002pjf.1_Missense_Mutation_p.E371Q	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	371	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGAACGGGCAGAGCAGGCTTC	0.552		NaN											0	0	0	0.006122	0	17	68				
SPHK2	56848	broad.mit.edu	37	19	49132338	49132338	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132338C>G	uc002pjr.2	+	7	1639	c.1273C>G	c.(1273-1275)CTT>GTT	p.L425V	SPHK2_uc010xzt.1_Missense_Mutation_p.L366V|SPHK2_uc002pjs.2_Missense_Mutation_p.L425V|SPHK2_uc002pjt.2_Missense_Mutation_p.L219V|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.L389V|SPHK2_uc002pjw.2_Missense_Mutation_p.L487V	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tgacctgcctcttcccctgcc	0.348		NaN											0	0	0	0.006214	0	9	45				
SPHK2	56848	broad.mit.edu	37	19	49132817	49132817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49132817C>G	uc002pjr.2	+	7	2118	c.1752C>G	c.(1750-1752)TTC>TTG	p.F584L	SPHK2_uc010xzt.1_Missense_Mutation_p.F525L|SPHK2_uc002pjs.2_Missense_Mutation_p.F584L|SPHK2_uc002pjt.2_Missense_Mutation_p.F378L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.F548L|SPHK2_uc002pjw.2_Missense_Mutation_p.F646L	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	584					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCGCCTTTTCTTGGCCATGG	0.701		NaN											0	0	0	0.004672	0	2	6				
PLEKHA4	57664	broad.mit.edu	37	19	49362759	49362759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49362759G>C	uc002pkx.2	-	7	1210	c.659C>G	c.(658-660)TCT>TGT	p.S220C	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.S220C	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	220	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTGGAGTCCAGAGTGGAGGTC	0.632		NaN											0	0	0	0.00499	0	17	62				
SLC6A16	28968	broad.mit.edu	37	19	49814319	49814319	+	Missense_Mutation	SNP	C	C	G	rs148710394	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:49814319C>G	uc002pmz.2	-	2	520	c.286G>C	c.(286-288)GAG>CAG	p.E96Q	SLC6A16_uc002pna.2_Missense_Mutation_p.E96Q|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	96	Cytoplasmic (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTCACTCTCTTTCTTCTCT	0.517		NaN											0	0	0	0.008361	0	27	92				
PRR12	57479	broad.mit.edu	37	19	50099726	50099726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50099726G>A	uc002poo.3	+	4	2134	c.2134G>A	c.(2134-2136)GAG>AAG	p.E712K		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCCTGGATGAGGGTGCCAC	0.682		NaN											0	0	0	0.001984	0	7	12				
CPT1C	126129	broad.mit.edu	37	19	50209292	50209292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:50209292G>A	uc002ppj.2	+	10	1296	c.1091G>A	c.(1090-1092)AGA>AAA	p.R364K	CPT1C_uc002ppl.3_Missense_Mutation_p.R330K|CPT1C_uc002ppi.2_Missense_Mutation_p.R281K|CPT1C_uc002ppk.2_Missense_Mutation_p.R353K|CPT1C_uc010eng.2_Missense_Mutation_p.R364K|CPT1C_uc010enh.2_Missense_Mutation_p.R364K|CPT1C_uc010ybc.1_Missense_Mutation_p.R235K|CPT1C_uc010eni.1_Missense_Mutation_p.R21K	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	364	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CAGTTTCAGAGAATCCTGGAT	0.632		NaN											0	0	0	0.012319	0	22	69				
ZNF845	91664	broad.mit.edu	37	19	53855026	53855026	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:53855026C>G	uc010ydv.1	+	4	1215	c.1098C>G	c.(1096-1098)TTC>TTG	p.F366L	ZNF845_uc010ydw.1_Missense_Mutation_p.F366L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	366	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTCAGTTTCAAATCAAACC	0.398		NaN											0	0	0	0.00333	0	24	71				
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646863G>C	uc002qdj.1	+	3	345	c.34G>C	c.(34-36)GAT>CAT	p.D12H	CNOT3_uc010yel.1_Missense_Mutation_p.D12H|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.D12H|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537		NaN											0	0	0	0.009718	0	36	247				
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54646887G>A	uc002qdj.1	+	3	369	c.58G>A	c.(58-60)GAG>AAG	p.E20K	CNOT3_uc010yel.1_Missense_Mutation_p.E20K|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.E20K|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557		NaN											0	0	0	0.005524	0	32	239				
LILRB3	11025	broad.mit.edu	37	19	54724400	54724400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54724400G>A	uc002qef.1	-	6	1367	c.1256C>T	c.(1255-1257)TCA>TTA	p.S419L	LILRB3_uc002qee.1_Missense_Mutation_p.S419L|LILRB3_uc002qeh.1_Missense_Mutation_p.S419L|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S419L|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.S419L|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.S419L|LILRB3_uc002qep.1_Missense_Mutation_p.S419L|LILRB3_uc002qeq.1_Missense_Mutation_p.S419L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S419L|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	419	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCTCACCTGAGACCACGAG	0.667		NaN											0	0	0	0.010729	0	10	33				
LILRB3	11025	broad.mit.edu	37	19	54746131	54746131	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:54746131C>T	uc010erh.1	-	3	250	c.126G>A	c.(124-126)GGG>GGA	p.G42G	LILRA6_uc002qew.1_Silent_p.G42G|LILRB3_uc002qeh.1_Silent_p.G42G|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.G42G|LILRA6_uc002qek.1_Silent_p.G42G|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.G42G|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.G42G|LILRB3_uc002qep.1_Silent_p.G42G|LILRB3_uc002qeq.1_Silent_p.G42G|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.G42G|LILRA6_uc010yep.1_Silent_p.G42G|LILRA6_uc010yeq.1_Silent_p.G42G|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.G42G|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	42	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACGGGGCTCCCCCAGCTGA	0.602		NaN											0	0	0	0.005443	0	27	169				
PPP1R12C	54776	broad.mit.edu	37	19	55610164	55610164	+	Silent	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55610164C>A	uc002qix.2	-	6	955	c.939G>T	c.(937-939)CGG>CGT	p.R313R	PPP1R12C_uc010yfs.1_Silent_p.R239R|PPP1R12C_uc002qiy.2_Silent_p.R313R	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	313	Potential.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCTGTTTCCGGGCCAGTT	0.637		NaN											1	0	4.4004e-07	0.00333	4.48252e-07	22	86				
SYT5	6861	broad.mit.edu	37	19	55689630	55689630	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:55689630C>T	uc002qjm.1	-	2	1246	c.186G>A	c.(184-186)AAG>AAA	p.K62K	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Silent_p.K62K|SYT5_uc002qjo.1_Silent_p.K62K	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	62	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGCCTGGCTCTTCTTGCCTG	0.632		NaN											0	0	0	0.000602	0	3	12				
ZNF17	7565	broad.mit.edu	37	19	57932476	57932476	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:57932476C>G	uc002qoo.1	+	3	1847	c.1616C>G	c.(1615-1617)TCA>TGA	p.S539*	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Nonsense_Mutation_p.S541*	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	539	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGCACAACTCAAATCATATT	0.423		NaN											0	0	0	0.00333	0	26	96				
ZNF324	25799	broad.mit.edu	37	19	58982927	58982927	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:58982927C>G	uc002qsw.1	+	4	1162	c.1068C>G	c.(1066-1068)CTC>CTG	p.L356L	ZNF324_uc002qsx.1_Silent_p.L133L	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	356	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCTCCAACCTCAGCCAGCACC	0.662		NaN											0	0	0	0.001984	0	4	14				
MYT1L	23040	broad.mit.edu	37	2	1914091	1914091	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:1914091C>G	uc002qxe.2	-	13	2565	c.1738G>C	c.(1738-1740)GAG>CAG	p.E580Q	MYT1L_uc002qxd.2_Missense_Mutation_p.E578Q|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	580					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCAGTTTCTCTGCTGCAGCG	0.592		NaN											0	0	0	0.001168	0	5	65				
TP53I3	9540	broad.mit.edu	37	2	24300523	24300523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:24300523C>T	uc002rey.1	-	6	985	c.925G>A	c.(925-927)GAA>AAA	p.E309K	LOC375190_uc002rew.2_Intron|SF3B14_uc002rev.2_5'Flank|SF3B14_uc010eyb.2_5'Flank|TP53I3_uc002rex.1_Missense_Mutation_p.R243Q|TP53I3_uc002rez.1_Missense_Mutation_p.E309K|TP53I3_uc010ykk.1_Missense_Mutation_p.E220K	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	309					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGATTTCGGTCACTGGG	0.562		NaN											0	0	0	0.01441	0	61	90				
ASXL2	55252	broad.mit.edu	37	2	25976464	25976464	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:25976464C>G	uc002rgs.2	-	10	1302	c.1081G>C	c.(1081-1083)GAG>CAG	p.E361Q	ASXL2_uc002rgt.1_Missense_Mutation_p.E101Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCTTCTCAATCTCTTGT	0.363		NaN											0	0	0	0.01441	0	54	240				
C2orf16	84226	broad.mit.edu	37	2	27801442	27801442	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:27801442C>T	uc002rkz.3	+	1	2054	c.2003C>T	c.(2002-2004)TCT>TTT	p.S668F		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	668										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCGCAAACATCTCCATTTGAG	0.408		NaN											0	0	0	0.01441	0	72	103				
FOSL2	2355	broad.mit.edu	37	2	28616622	28616622	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:28616622C>G	uc002rma.2	+	1	844	c.35C>G	c.(34-36)TCG>TGG	p.S12W	uc002rlz.1_Intron|FOSL2_uc010ymi.1_5'Flank	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	12					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTTGACACCTCGTCCCGGGGC	0.716		NaN											0	0	0	0.00308	0	7	9				
CCDC75	253635	broad.mit.edu	37	2	37319356	37319356	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:37319356C>G	uc010ezz.2	+	6	631	c.486C>G	c.(484-486)CTC>CTG	p.L162L	CCDC75_uc002rpr.3_Silent_p.L59L	NM_174931	NP_777591	Q8N954	CCD75_HUMAN	coiled-coil domain containing 75	162						intracellular	nucleic acid binding				0		all_hematologic(82;0.21)				AAGGAGATCTCAGAAGAAGCC	0.378		NaN											0	0	0	0.004672	0	3	11				
SOS1	6654	broad.mit.edu	37	2	39213087	39213087	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:39213087G>C	uc002rrk.3	-	23	3921	c.3880C>G	c.(3880-3882)CCA>GCA	p.P1294A	SOS1_uc002rrj.3_Missense_Mutation_p.P893A	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1294					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CTTTGTCGTGGAGGAACAGGC	0.502		NaN							Noonan_syndrome				0	0	0	0.01441	0	94	204				
ALMS1	7840	broad.mit.edu	37	2	73677000	73677000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:73677000C>G	uc002sje.1	+	10	3460	c.3349C>G	c.(3349-3351)CTG>GTG	p.L1117V	ALMS1_uc002sjf.1_Missense_Mutation_p.L1073V|ALMS1_uc002sjg.2_Missense_Mutation_p.L503V|ALMS1_uc002sjh.1_Missense_Mutation_p.L503V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1115	34 X 47 AA approximate tandem repeat.|13.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGAGAGTCATCTGCCTAAAGA	0.468		NaN											0	0	0	0.01441	0	81	231				
MOGS	7841	broad.mit.edu	37	2	74689052	74689052	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74689052C>T	uc010ffj.2	-	4	2027	c.1864G>A	c.(1864-1866)GAG>AAG	p.E622K	MOGS_uc010ffh.2_Missense_Mutation_p.E347K|MOGS_uc010yrt.1_Missense_Mutation_p.E503K|MOGS_uc010ffi.2_Missense_Mutation_p.E516K	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	622	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GCAGCTACCTCAGCCTCACCC	0.632		NaN											0	0	0	0.006122	0	13	53				
MRPL53	116540	broad.mit.edu	37	2	74699247	74699247	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:74699247C>A	uc002sln.2	-	3	478	c.338G>T	c.(337-339)TGA>TTA	p.*113L	CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	113						mitochondrion|ribosome					0						TTGGCGCTGTCAGCGACCAGT	0.547		NaN											1	0	2.44723e-14	0.004656	2.52899e-14	26	84				
HK2	3099	broad.mit.edu	37	2	75061718	75061718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:75061718C>G	uc002snd.2	+	1	1937	c.11C>G	c.(10-12)TCG>TGG	p.S4W		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	4	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						ATGATTGCCTCGCATCTGCTT	0.662		NaN											0	0	0	0.006122	0	16	50				
PROM2	150696	broad.mit.edu	37	2	95941808	95941808	+	Missense_Mutation	SNP	C	C	A	rs147971761		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:95941808C>A	uc002suh.1	+	3	558	c.425C>A	c.(424-426)ACA>AAA	p.T142K	PROM2_uc002sui.2_Missense_Mutation_p.T142K|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.T142K|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	142	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CGAGTGAAGACAGAGCACAAG	0.687		NaN											1	0	0.000442599	0.006214	0.000447421	9	39				
SNRNP200	23020	broad.mit.edu	37	2	96952861	96952861	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:96952861G>A	uc002svu.2	-	27	3608	c.3522C>T	c.(3520-3522)ATC>ATT	p.I1174I	SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Silent_p.I246I	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1174	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CATATTTGTGGATGGTCTTCC	0.537		NaN											0	0	0	0.01441	0	58	149				
CNNM3	26505	broad.mit.edu	37	2	97494773	97494773	+	Missense_Mutation	SNP	G	G	A	rs149301704		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:97494773G>A	uc002swy.2	+	7	1985	c.1961G>A	c.(1960-1962)CGA>CAA	p.R654Q	CNNM3_uc002swz.2_Missense_Mutation_p.R606Q	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	654					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CTGGCTACCCGAGCCCAGAAC	0.587		NaN											0	0	0	0.00333	0	25	38				
EIF5B	9669	broad.mit.edu	37	2	100011209	100011209	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:100011209G>C	uc002tab.2	+	21	3301	c.3117G>C	c.(3115-3117)GTG>GTC	p.V1039V	EIF5B_uc010yvq.1_Silent_p.V21V	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1039					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						CCTTCGATGTGAGAATTGAAC	0.318		NaN											0	0	0	0.007291	0	26	121				
IL1RL1	9173	broad.mit.edu	37	2	102956721	102956721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:102956721G>C	uc002tbu.1	+	4	707	c.436G>C	c.(436-438)GAG>CAG	p.E146Q	IL1RL1_uc010ywa.1_Missense_Mutation_p.E29Q|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.E146Q	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	146	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						AGCACCTCTTGAGTGGTTTAA	0.274		NaN											0	0	0	0.001855	0	12	62				
SLC9A4	389015	broad.mit.edu	37	2	103119999	103119999	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:103119999C>T	uc002tbz.3	+	3	1270	c.813C>T	c.(811-813)ATC>ATT	p.I271I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	271	Helical; Name=H/M6; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CCCGATTCATCGTTGTGGGGC	0.393		NaN											0	0	0	0.003954	0	24	69				
GYPC	2995	broad.mit.edu	37	2	127453717	127453717	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:127453717G>A	uc002tnq.2	+	4	542	c.386G>A	c.(385-387)TGA>TAA	p.*129*	GYPC_uc002tnr.2_Silent_p.*110*|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	129						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TACTTTATTTGAGGGACAACA	0.552		NaN											0	0	0	0.006214	0	10	34				
GPR17	2840	broad.mit.edu	37	2	128408370	128408370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:128408370G>C	uc010yzn.1	+	4	756	c.145G>C	c.(145-147)GAG>CAG	p.E49Q	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.E49Q|GPR17_uc010yzo.1_Missense_Mutation_p.E21Q|GPR17_uc002tpd.2_Missense_Mutation_p.E21Q	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	49	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ggccacggcagagcaatgtgg	0.08		NaN									OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	31	127				
NR4A2	4929	broad.mit.edu	37	2	157186256	157186256	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:157186256G>C	uc002tyz.3	-	3	865	c.443C>G	c.(442-444)TCT>TGT	p.S148C	NR4A2_uc002tyx.3_Missense_Mutation_p.S85C|NR4A2_uc010zcf.1_Missense_Mutation_p.S148C|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	148	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GTTGTGGAGAGATCCCGGGTC	0.622		NaN											0	0	0	0.01441	0	51	157				
GALNT5	11227	broad.mit.edu	37	2	158115547	158115547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:158115547C>T	uc002tzg.2	+	1	1208	c.953C>T	c.(952-954)TCT>TTT	p.S318F	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	318	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CTCAATTTCTCTGAAAGCCAT	0.388		NaN											0	0	0	0.009535	0	31	93				
SLC4A10	57282	broad.mit.edu	37	2	162833271	162833271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:162833271G>C	uc002ubx.3	+	25	3413	c.3229G>C	c.(3229-3231)GAT>CAT	p.D1077H	SLC4A10_uc002uby.3_Missense_Mutation_p.D1047H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1058H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1077	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CCTGTCTAGAGATGATCCATC	0.348		NaN											0	0	0	0.004672	0	2	8				
SCN3A	6328	broad.mit.edu	37	2	165956815	165956815	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:165956815C>T	uc002ucx.2	-	22	4455	c.3963G>A	c.(3961-3963)ATG>ATA	p.M1321I	SCN3A_uc002ucy.2_Missense_Mutation_p.M1272I|SCN3A_uc002ucz.2_Missense_Mutation_p.M1272I|SCN3A_uc002uda.1_Missense_Mutation_p.M1141I|SCN3A_uc002udb.1_Missense_Mutation_p.M1141I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1321						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTCTTACCCTCATGCCTTCAA	0.373		NaN											0	0	0	0.004878	0	35	117				
XIRP2	129446	broad.mit.edu	37	2	167992460	167992460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:167992460G>C	uc002udx.2	+	2	468	c.450G>C	c.(448-450)AAG>AAC	p.K150N	XIRP2_uc010fpn.2_Missense_Mutation_p.K150N|XIRP2_uc010fpo.2_Missense_Mutation_p.K150N|XIRP2_uc010fpp.2_Missense_Mutation_p.K150N|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAGCTTTTAAGAGTCACCCTG	0.433		NaN											0	0	0	0.012319	0	21	67				
LRP2	4036	broad.mit.edu	37	2	170083085	170083085	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170083085G>A	uc002ues.2	-	32	5454	c.5241C>T	c.(5239-5241)TTC>TTT	p.F1747F		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1747	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTTATTAAGAAAGGTTGAT	0.378		NaN											0	0	0	0.004007	0	17	64				
KBTBD10	10324	broad.mit.edu	37	2	170367164	170367164	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:170367164G>A	uc002ueu.1	+	1	953	c.876G>A	c.(874-876)CTG>CTA	p.L292L	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	292					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CTGGTTACCTGAATGACATTC	0.478		NaN											0	0	0	0.010504	0	22	63				
DLX2	1746	broad.mit.edu	37	2	172965328	172965328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:172965328G>C	uc002uhn.2	-	3	1142	c.930C>G	c.(928-930)CAC>CAG	p.H310Q		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	310	Poly-His.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGTGGTGGTGATGCGGCT	0.672		NaN											0	0	0	0.001984	0	6	38				
NFE2L2	4780	broad.mit.edu	37	2	178098975	178098975	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:178098975A>G	uc002ulh.3	-	2	625	c.70T>C	c.(70-72)TGG>CGG	p.W24R	NFE2L2_uc002ulg.3_Missense_Mutation_p.W8R|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8R|NFE2L2_uc002uli.3_Missense_Mutation_p.W8R|NFE2L2_uc010fra.2_Missense_Mutation_p.W8R|NFE2L2_uc010frb.2_Missense_Mutation_p.W8R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	24					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTGCCTCCAAAGTATGTCA	0.348		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.004482	0	8	64		Valid		
TTN	7273	broad.mit.edu	37	2	179472934	179472934	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179472934G>A	uc010zfg.1	-	224	45196	c.44972C>T	c.(44971-44973)TCA>TTA	p.S14991L	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.S8686L|TTN_uc010zfi.1_Missense_Mutation_p.S8619L|TTN_uc010zfj.1_Missense_Mutation_p.S8494L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15918							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGATCTGAAGGTGGACT	0.418		NaN											0	0	0	0.006214	0	9	21				
TTN	7273	broad.mit.edu	37	2	179583286	179583286	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179583286C>G	uc010zfg.1	-	82	21039	c.20815G>C	c.(20815-20817)GAG>CAG	p.E6939Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3600Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7866							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTGTCTCAACACTGAAA	0.423		NaN											0	0	0	0.004482	0	9	49				
TTN	7273	broad.mit.edu	37	2	179598113	179598113	+	Missense_Mutation	SNP	C	C	T	rs72648934		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:179598113C>T	uc010zfg.1	-	51	12399	c.12175G>A	c.(12175-12177)GCC>ACC	p.A4059T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A720T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4986							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTACTGGCGACCAAGGGT	0.473		NaN											0	0	0	0.005524	0	41	127				
NEUROD1	4760	broad.mit.edu	37	2	182543515	182543515	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:182543515C>G	uc002uof.2	-	2	309	c.73G>C	c.(73-75)GAG>CAG	p.E25Q	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	25					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTGAGACACTCGTCTGTCCAG	0.552		NaN											0	0	0	0.003954	0	20	57				
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:183095762C>T	uc002uos.2	-	6	646	c.562G>A	c.(562-564)GAT>AAT	p.D188N	PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.2_Missense_Mutation_p.D172N|PDE1A_uc002uou.2_Missense_Mutation_p.D154N	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338		NaN											0	0	0	0.00874	0	41	131				
FAM171B	165215	broad.mit.edu	37	2	187626715	187626715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626715C>T	uc002ups.2	+	8	1758	c.1646C>T	c.(1645-1647)TCC>TTC	p.S549F	FAM171B_uc002upr.1_Missense_Mutation_p.S516F|FAM171B_uc002upt.2_Missense_Mutation_p.S18F	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	549	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GACCTTTTCTCCACACCGGAA	0.438		NaN											0	0	0	0.004007	0	14	55				
FAM171B	165215	broad.mit.edu	37	2	187626819	187626819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:187626819C>G	uc002ups.2	+	8	1862	c.1750C>G	c.(1750-1752)CAG>GAG	p.Q584E	FAM171B_uc002upr.1_Missense_Mutation_p.Q551E|FAM171B_uc002upt.2_Missense_Mutation_p.Q53E	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	584	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GAACTTTACGCAGACCTTGCC	0.473		NaN											0	0	0	0.00499	0	17	69				
ABI2	10152	broad.mit.edu	37	2	204291976	204291976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:204291976C>G	uc002vaa.2	+	11	1678	c.1443C>G	c.(1441-1443)ATC>ATG	p.I481M	ABI2_uc002uzz.2_Missense_Mutation_p.I443M|ABI2_uc010zih.1_Missense_Mutation_p.I129M|ABI2_uc010zii.1_Missense_Mutation_p.I475M|ABI2_uc010zij.1_Missense_Mutation_p.I358M|ABI2_uc002vab.2_Missense_Mutation_p.I369M|ABI2_uc010zik.1_Missense_Mutation_p.I206M|ABI2_uc010zil.1_Missense_Mutation_p.I345M|ABI2_uc010zim.1_Missense_Mutation_p.I294M|ABI2_uc002vac.2_Missense_Mutation_p.I267M|ABI2_uc010zin.1_Missense_Mutation_p.I158M	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	481	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						TTTATGTCATCAAGAAGAATG	0.393		NaN											0	0	0	0.010504	0	18	65				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393		NaN	Mis		gliobastoma 								0	0	0	0.003271	0	34	71				
MAP2	4133	broad.mit.edu	37	2	210557605	210557605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:210557605G>A	uc002vde.1	+	7	959	c.711G>A	c.(709-711)ATG>ATA	p.M237I	MAP2_uc002vdc.1_Missense_Mutation_p.M237I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.M233I	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	237					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAAGACATGAAACAGAAGA	0.458		NaN											0	0	0	0.004656	0	23	105				
TNS1	7145	broad.mit.edu	37	2	218712319	218712319	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:218712319G>A	uc002vgt.2	-	17	2944	c.2546C>T	c.(2545-2547)TCA>TTA	p.S849L	TNS1_uc002vgr.2_Missense_Mutation_p.S849L|TNS1_uc002vgs.2_Missense_Mutation_p.S849L|TNS1_uc010zjv.1_Missense_Mutation_p.S849L|TNS1_uc010fvj.1_Missense_Mutation_p.S917L|TNS1_uc010fvk.1_Missense_Mutation_p.S974L|TNS1_uc010fvi.1_Missense_Mutation_p.S536L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	849						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCCTTTGGTGAGAGCAGAGG	0.602		NaN											0	0	0	0.004878	0	39	97				
SGPP2	130367	broad.mit.edu	37	2	223389719	223389719	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:223389719C>T	uc010zlo.1	+	4	615	c.615C>T	c.(613-615)CTC>CTT	p.L205L	SGPP2_uc010zlp.1_Silent_p.L77L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphotase 2	205	Helical; (Potential).				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|skin(1)	2		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGGTGTGTCTCAGCAGGCTCT	0.473		NaN											0	0	0	0.004007	0	15	64				
IRS1	3667	broad.mit.edu	37	2	227662879	227662879	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227662879G>A	uc002voh.3	-	1	628	c.576C>T	c.(574-576)ATC>ATT	p.I192I		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	192	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCACGAAGCTGATGGTCTTGC	0.552		NaN									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	17	72				
IRS1	3667	broad.mit.edu	37	2	227663125	227663125	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227663125G>C	uc002voh.3	-	1	382	c.330C>G	c.(328-330)CTC>CTG	p.L110L		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	110	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCTGTAGGAGAGCCTGGT	0.672		NaN									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004656	0	26	131				
COL4A4	1286	broad.mit.edu	37	2	227886844	227886844	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:227886844G>T	uc010zlt.1	-	43	4790	c.4136C>A	c.(4135-4137)CCA>CAA	p.P1379Q		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAAGGCCTGGGATTCGGGG	0.582		NaN											1	0	9.61239e-26	0.01441	1.00116e-25	76	297				
COL4A3	1285	broad.mit.edu	37	2	228163449	228163449	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:228163449G>C	uc002vom.1	+	43	3965	c.3803G>C	c.(3802-3804)GGA>GCA	p.G1268A	COL4A3_uc002von.1_Missense_Mutation_p.G1268A|COL4A3_uc002voo.1_Missense_Mutation_p.G1268A|COL4A3_uc002vop.1_Missense_Mutation_p.G1268A|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1268	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCATAAAAGGAGACAAAGGG	0.522		NaN											0	0	0	0.014323	0	21	73				
TRIP12	9320	broad.mit.edu	37	2	230656622	230656622	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:230656622G>A	uc002vpw.1	-	28	4259	c.4150C>T	c.(4150-4152)CTA>TTA	p.L1384L	TRIP12_uc002vpx.1_Silent_p.L1432L|TRIP12_uc002vpy.1_Silent_p.L1114L	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCTCTGCCTAGAGGATTGCTC	0.378		NaN											0	0	0	0.01441	0	58	199				
ARMC9	80210	broad.mit.edu	37	2	232141419	232141419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141419G>A	uc002vrq.3	+	15	1517	c.1405G>A	c.(1405-1407)GAC>AAC	p.D469N	ARMC9_uc002vrp.3_Missense_Mutation_p.D469N|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	469							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GAAGGACCCTGACTGCCTGTC	0.557		NaN											0	0	0	0.01441	0	47	159				
ARMC9	80210	broad.mit.edu	37	2	232141443	232141443	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:232141443G>A	uc002vrq.3	+	15	1541	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K	ARMC9_uc002vrp.3_Missense_Mutation_p.E477K|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	477							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTACACGCTGGAGTACTCGGT	0.567		NaN											0	0	0	0.00623	0	37	139				
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:240061422C>T	uc002vyk.3	-	9	1728	c.936G>A	c.(934-936)GCG>GCA	p.A312A	HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCGTTCTCCGCGCTGACGC	0.662		NaN											0	0	0	0.010771	0	40	121				
MTERFD2	130916	broad.mit.edu	37	2	242039257	242039257	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242039257T>C	uc002wan.1	-	1	654	c.161A>G	c.(160-162)CAG>CGG	p.Q54R	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.Q25R	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	25										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGAGGAGTCTGCCTAGCCAT	0.498		NaN											0	0	0	0.001855	0	12	26				
D2HGDH	728294	broad.mit.edu	37	2	242707248	242707248	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr2:242707248G>C	uc002wce.1	+	10	1603	c.1430G>C	c.(1429-1431)GGA>GCA	p.G477A	D2HGDH_uc010fzq.1_Missense_Mutation_p.G343A|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.G176A	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	477					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCGGAGCACGGAGTGGGCTTC	0.701		NaN											0	0	0	0.001168	0	5	16				
JAG1	182	broad.mit.edu	37	20	10632342	10632342	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:10632342G>T	uc002wnw.2	-	8	1523	c.1007C>A	c.(1006-1008)GCT>GAT	p.A336D	JAG1_uc010gcd.1_5'Flank	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	336	Extracellular (Potential).|EGF-like 4.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGCGTGCTCAGCTGCAAAAAC	0.607		NaN							Alagille_Syndrome				1	0	8.12818e-05	0.001984	8.22569e-05	6	20				
ISM1	140862	broad.mit.edu	37	20	13251215	13251215	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13251215C>A	uc010gce.1	+	2	209	c.203C>A	c.(202-204)CCA>CAA	p.P68Q	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	68						extracellular region					0						AAAGAAGCACCAAGGGAGCAT	0.502		NaN											1	0	0.00185496	0.001855	0.00187312	12	42				
SEL1L2	80343	broad.mit.edu	37	20	13850838	13850838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:13850838G>C	uc010gcf.2	-	13	1198	c.1116C>G	c.(1114-1116)ATC>ATG	p.I372M	SEL1L2_uc002woq.3_Missense_Mutation_p.I233M|SEL1L2_uc010zrl.1_Missense_Mutation_p.I372M|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	372	Extracellular (Potential).|Sel1-like 7.					integral to membrane	binding			ovary(2)	2						CATGAAGGCCGATTGCATTGC	0.333		NaN											0	0	0	0.005443	0	26	85				
FOXA2	3170	broad.mit.edu	37	20	22563340	22563340	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:22563340C>G	uc002wsn.2	-	3	712	c.522G>C	c.(520-522)CAG>CAC	p.Q174H	FOXA2_uc002wsm.2_Missense_Mutation_p.Q180H	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	174	Fork-head.				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					TGTTGGGGCTCTGCTGGATGG	0.617		NaN											0	0	0	0.010771	0	41	117				
ABHD12	26090	broad.mit.edu	37	20	25295601	25295601	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:25295601C>G	uc002wus.1	-	6	717	c.579G>C	c.(577-579)CTG>CTC	p.L193L	ABHD12_uc002wuq.2_Silent_p.L193L|ABHD12_uc002wur.2_Silent_p.L193L|ABHD12_uc002wut.1_Silent_p.L193L|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	193	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1						CAAGGGAACTCAGCACCTGTA	0.448		NaN											0	0	0	0.014323	0	22	91				
C20orf70	140683	broad.mit.edu	37	20	31760844	31760844	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31760844C>T	uc002wyo.1	+	3	335	c.264C>T	c.(262-264)GTC>GTT	p.V88V		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	88						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						TGAACAATGTCATTTCTAAGC	0.463		NaN											0	0	0	0.005443	0	26	62				
C20orf71	128861	broad.mit.edu	37	20	31813019	31813019	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:31813019G>C	uc002wyr.2	+	4	710	c.502G>C	c.(502-504)GAG>CAG	p.E168Q	C20orf71_uc002wys.2_Missense_Mutation_p.E132Q	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	168						extracellular region	lipid binding			ovary(1)|skin(1)	2						ATGCGATGCAGAGCCCAGCAG	0.572		NaN											0	0	0	0.00874	0	42	132				
CPNE1	8904	broad.mit.edu	37	20	34220101	34220101	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:34220101C>G	uc002xdf.2	-	7	803	c.440G>C	c.(439-441)AGA>ACA	p.R147T	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.R152T|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdg.2_Missense_Mutation_p.R147T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R147T|CPNE1_uc002xdi.2_Missense_Mutation_p.R147T|CPNE1_uc002xdj.2_Missense_Mutation_p.R147T|CPNE1_uc002xdk.2_Missense_Mutation_p.R147T|CPNE1_uc002xdl.2_Missense_Mutation_p.R147T|CPNE1_uc002xdm.2_Missense_Mutation_p.R147T|CPNE1_uc010gfk.1_Missense_Mutation_p.R147T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	147	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCTAGGTTTCTGGCCTCTAC	0.483		NaN											0	0	0	0.004656	0	21	69				
CTNNBL1	56259	broad.mit.edu	37	20	36488327	36488327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36488327C>T	uc010zvw.1	+	15	1510	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	CTNNBL1_uc002xhh.2_Silent_p.I286I|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Silent_p.I221I	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	473					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GAGAGATCATCGACAATGACA	0.522		NaN											0	0	0	0.00308	0	8	52				
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:36948673G>A	uc002xib.2	+	7	827	c.765G>A	c.(763-765)ATG>ATA	p.M255I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.468		NaN											0	0	0	0.001168	0	6	42				
TOP1	7150	broad.mit.edu	37	20	39708734	39708734	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:39708734A>T	uc002xjl.2	+	6	591	c.345A>T	c.(343-345)CAA>CAT	p.Q115H	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	115	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GTCCACCACAAATTAAAGATG	0.348		NaN	T	NUP98	AML*								0	0	0	0.00245	0	13	52				
SEMG2	6407	broad.mit.edu	37	20	43850714	43850714	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850714G>A	uc010ggz.2	+	2	498	c.441G>A	c.(439-441)GGG>GGA	p.G147G	SEMG2_uc002xnk.2_Silent_p.G147G|SEMG2_uc002xnl.2_Silent_p.G147G	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	147	Repeat-rich region.|2-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AAGATCAGGGGAATAGCCCAT	0.408		NaN											0	0	0	0.010504	0	22	65				
SEMG2	6407	broad.mit.edu	37	20	43850728	43850728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:43850728G>A	uc010ggz.2	+	2	512	c.455G>A	c.(454-456)GGA>GAA	p.G152E	SEMG2_uc002xnk.2_Missense_Mutation_p.G152E|SEMG2_uc002xnl.2_Missense_Mutation_p.G152E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	152	Repeat-rich region.|2-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AGCCCATCTGGAAAGGGATTA	0.408		NaN											0	0	0	0.012319	0	23	70				
ZNF335	63925	broad.mit.edu	37	20	44577600	44577600	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:44577600C>T	uc002xqw.2	-	28	4144	c.4021G>A	c.(4021-4023)GAT>AAT	p.D1341N	ZNF335_uc002xqv.2_Missense_Mutation_p.D453N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1186N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GCTCAGTCATCGGCCAGGGTG	0.607		NaN											0	0	0	0.003954	0	23	68				
PTGIS	5740	broad.mit.edu	37	20	48130897	48130897	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48130897G>C	uc002xut.2	-	7	945	c.891C>G	c.(889-891)CTC>CTG	p.L297L	PTGIS_uc010zyi.1_Silent_p.L158L	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	297					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGAGAAGGAAGAGCAGGAGCC	0.597		NaN											0	0	0	0.00499	0	14	54				
SLC9A8	23315	broad.mit.edu	37	20	48497480	48497480	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:48497480G>C	uc002xuv.1	+	13	1388	c.1178G>C	c.(1177-1179)AGA>ACA	p.R393T	SLC9A8_uc010zym.1_Missense_Mutation_p.R93T|SLC9A8_uc010gic.2_Missense_Mutation_p.R93T|SLC9A8_uc010gid.2_Missense_Mutation_p.R17T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	393	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTATTTGGCAGAGCGGTAAAC	0.413		NaN											0	0	0	0.012213	0	33	127				
SALL4	57167	broad.mit.edu	37	20	50408216	50408216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:50408216G>C	uc002xwh.3	-	2	907	c.806C>G	c.(805-807)TCT>TGT	p.S269C	SALL4_uc010gii.2_Missense_Mutation_p.S269C|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	269					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CACAGCTGCAGAAACCTGCTG	0.592		NaN											0	0	0	0.004007	0	5	30				
C20orf177	63939	broad.mit.edu	37	20	58520007	58520007	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:58520007G>C	uc002yba.2	+	5	1424	c.1009G>C	c.(1009-1011)GAT>CAT	p.D337H	C20orf177_uc010zzx.1_Missense_Mutation_p.D180H|C20orf177_uc002ybc.2_Missense_Mutation_p.D337H	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	337										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			GGACTCAGCAGATTCCTGTAA	0.517		NaN											0	0	0	0.00499	0	17	54				
LAMA5	3911	broad.mit.edu	37	20	60921260	60921260	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:60921260C>T	uc002ycq.2	-	10	1361	c.1294G>A	c.(1294-1296)GAG>AAG	p.E432K		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	432	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCGGACTCGCAGTTGCAG	0.647		NaN											0	0	0	0.008291	0	11	19				
UCKL1	54963	broad.mit.edu	37	20	62577259	62577259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr20:62577259C>T	uc010gkn.2	-	4	524	c.481G>A	c.(481-483)GAC>AAC	p.D161N	UCKL1_uc011abm.1_Missense_Mutation_p.D146N|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	161					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGTCGAAGTCAAAGGCATCT	0.562		NaN											0	0	0	0.01441	0	86	284				
LIPI	149998	broad.mit.edu	37	21	15561577	15561577	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:15561577G>A	uc002yjm.2	-	2	283	c.273C>T	c.(271-273)TTC>TTT	p.F91F	LIPI_uc010gkw.1_Silent_p.F24F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	70					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGTGTGTTGAAATTAACAT	0.383		NaN											0	0	0	0.010818	0	31	89				
NCAM2	4685	broad.mit.edu	37	21	22910264	22910264	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:22910264G>C	uc002yld.1	+	18	2749	c.2500G>C	c.(2500-2502)GAC>CAC	p.D834H	NCAM2_uc011acb.1_Missense_Mutation_p.D692H	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	834	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAAAGAAGACGACAGCAAAGC	0.358		NaN											0	0	0	0.006214	0	10	64				
KRTAP13-2	337959	broad.mit.edu	37	21	31744044	31744044	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:31744044C>G	uc002ynz.3	-	1	514	c.488G>C	c.(487-489)AGA>ACA	p.R163T		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	163						intermediate filament					0						ATAGGCTGGTCTGTAACAAGG	0.493		NaN											0	0	0	0.006122	0	12	47				
TRAPPC10	7109	broad.mit.edu	37	21	45514011	45514011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514011C>G	uc002zea.2	+	20	3234	c.3065C>G	c.(3064-3066)TCT>TGT	p.S1022C	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S733C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S400C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S127C	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1022					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCTCCCCCTTCTCTGCATTGC	0.478		NaN											0	0	0	0.009718	0	39	176				
TRAPPC10	7109	broad.mit.edu	37	21	45514050	45514050	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45514050C>G	uc002zea.2	+	20	3273	c.3104C>G	c.(3103-3105)TCT>TGT	p.S1035C	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S746C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S413C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S140C	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1035					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCCCCAGCTTCTGAGGAACAG	0.448		NaN											0	0	0	0.010771	0	40	181				
TRAPPC10	7109	broad.mit.edu	37	21	45518306	45518306	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45518306C>G	uc002zea.2	+	21	3406	c.3237C>G	c.(3235-3237)CTC>CTG	p.L1079L	TRAPPC10_uc010gpo.2_Silent_p.L790L|TRAPPC10_uc011afa.1_Silent_p.L457L|TRAPPC10_uc011afb.1_Silent_p.L184L	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1079					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CAGGCTCCCTCTGCTCCCTGG	0.473		NaN											0	0	0	0.01441	0	54	188				
AIRE	326	broad.mit.edu	37	21	45706995	45706995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr21:45706995C>G	uc002zei.2	+	3	569	c.442C>G	c.(442-444)CCA>GCA	p.P148A		NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	148					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		AGCCCTGACTCCAAGGGGCAC	0.716		NaN							Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				0	0	0	0.008291	0	4	23				
PEX26	55670	broad.mit.edu	37	22	18566266	18566266	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:18566266C>T	uc002znp.3	+	4	644	c.435C>T	c.(433-435)CTC>CTT	p.L145L	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.L145L|PEX26_uc002znt.2_Silent_p.L145L	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	145	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						GTGCCTGGCTCCAAGACCCAG	0.527		NaN											0	0	0	0.00874	0	45	175				
ZNF70	7621	broad.mit.edu	37	22	24086954	24086954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:24086954G>C	uc002zxs.2	-	2	835	c.374C>G	c.(373-375)TCA>TGA	p.S125*	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GTTAGGTCCTGAGTCCCCTCT	0.562		NaN											0	0	0	0.01441	0	44	159				
CRYBB1	1414	broad.mit.edu	37	22	27003913	27003914	+	Missense_Mutation	DNP	CC	CC	AT	rs141811471		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:27003913_27003914CC>AT	uc003acy.1	-	4	441_442	c.371_372GG>AT	c.(370-372)TGG>TAT	p.W124Y		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	124	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			ovary(1)	1						ACCATGTGTTCCAGCGAGGGTA	0.594		NaN											0	0	0	0.004672	0	21	53				
AP1B1	162	broad.mit.edu	37	22	29752417	29752417	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:29752417C>T	uc003afj.2	-	6	898	c.714G>A	c.(712-714)CAG>CAA	p.Q238Q	AP1B1_uc003afi.2_Silent_p.Q238Q|AP1B1_uc003afk.2_Silent_p.Q238Q|AP1B1_uc003afl.2_Silent_p.Q238Q	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	238					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CCGCTCACCTCTGGGCCTCGC	0.637		NaN											0	0	0	0.010729	0	11	23				
ASCC2	84164	broad.mit.edu	37	22	30188508	30188508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:30188508G>A	uc003agr.2	-	18	2041	c.1936C>T	c.(1936-1938)CAG>TAG	p.Q646*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.Q646*|ASCC2_uc011akr.1_Nonsense_Mutation_p.Q570*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAGCACCTGAGGGATGGTG	0.562		NaN											0	0	0	0.009718	0	39	484				
ELFN2	114794	broad.mit.edu	37	22	37770273	37770273	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:37770273G>A	uc003asq.3	-	3	2088	c.1302C>T	c.(1300-1302)GTC>GTT	p.V434V		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	434	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TGGTCTTCTTGACGTTGACAG	0.617		NaN											0	0	0	0.01441	0	58	197				
EIF3L	51386	broad.mit.edu	37	22	38273809	38273809	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:38273809G>C	uc003auf.2	+	11	1293	c.1206G>C	c.(1204-1206)CAG>CAC	p.Q402H	EIF3L_uc003aue.1_Missense_Mutation_p.Q402H|EIF3L_uc011ann.1_Missense_Mutation_p.Q354H|EIF3L_uc003aug.2_Missense_Mutation_p.Q294H|EIF3L_uc003auh.2_Missense_Mutation_p.Q135H	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	402						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						TGCGCATGCAGAAAGGTGACC	0.517		NaN											0	0	0	0.004656	0	25	80				
MKL1	57591	broad.mit.edu	37	22	40815081	40815081	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:40815081G>C	uc003ayv.1	-	9	1568	c.1361C>G	c.(1360-1362)TCT>TGT	p.S454C	MKL1_uc003ayw.1_Missense_Mutation_p.S454C|MKL1_uc010gye.1_Missense_Mutation_p.S454C|MKL1_uc010gyf.1_Missense_Mutation_p.S404C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	454					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGGGGTGGGAGACACGGGGGG	0.667		NaN	T	RBM15	acute megakaryocytic leukemia								0	0	0	0.009096	0	4	18				
L3MBTL2	83746	broad.mit.edu	37	22	41626166	41626166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:41626166G>C	uc003azo.2	+	17	2083	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	677					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						TGTGAAGGAAGAGCATCTAGA	0.602		NaN											0	0	0	0.008871	0	20	74				
RIBC2	26150	broad.mit.edu	37	22	45818177	45818177	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:45818177C>T	uc011aqs.1	+	5	758	c.549C>T	c.(547-549)CTC>CTT	p.L183L		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	115											0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAGGCCCTCTACACAGAGA	0.547		NaN											0	0	0	0.01441	0	68	225				
GTSE1	51512	broad.mit.edu	37	22	46693369	46693369	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:46693369G>A	uc011aqy.1	+	2	284	c.72G>A	c.(70-72)AAG>AAA	p.K24K	CN5H6.4_uc003bhj.3_5'Flank|GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	5					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGACCCTAAGAAGGAAGGCA	0.547		NaN											0	0	0	0.008361	0	23	97				
PLXNB2	23654	broad.mit.edu	37	22	50721499	50721499	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:50721499G>A	uc003bkv.3	-	17	2902	c.2796C>T	c.(2794-2796)CTC>CTT	p.L932L	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	932	Extracellular (Potential).|IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACGCCGTTGAGGGTCACCC	0.677		NaN											0	0	0	0.010729	0	11	17				
CHKB	1120	broad.mit.edu	37	22	51020725	51020725	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr22:51020725C>T	uc003bms.2	-	2	504	c.286G>A	c.(286-288)GAG>AAG	p.E96K	CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Missense_Mutation_p.E96K|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	96					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CGGGGCTCCTCGCCAACGCTG	0.701		NaN											0	0	0	0.004672	0	3	8				
FANCD2	2177	broad.mit.edu	37	3	10089620	10089620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10089620C>T	uc003buw.2	+	16	1376	c.1298C>T	c.(1297-1299)TCA>TTA	p.S433L	FANCD2_uc003bux.1_Missense_Mutation_p.S433L|FANCD2_uc003buy.1_Missense_Mutation_p.S433L|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	433					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATATGTGTTCATCCATTCTG	0.393		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	51	283				
FANCD2	2177	broad.mit.edu	37	3	10091133	10091133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:10091133C>G	uc003buw.2	+	17	1567	c.1489C>G	c.(1489-1491)CTA>GTA	p.L497V	FANCD2_uc003bux.1_Missense_Mutation_p.L497V|FANCD2_uc003buy.1_Missense_Mutation_p.L497V|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	497					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATGTCCTTCTAGAGTTGGT	0.398		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	70	254				
NUP210	23225	broad.mit.edu	37	3	13393439	13393439	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:13393439G>C	uc003bxv.1	-	20	2858	c.2775C>G	c.(2773-2775)CTC>CTG	p.L925L	NUP210_uc003bxw.2_Silent_p.L101L|NUP210_uc003bxx.2_Silent_p.L597L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	925	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TGCTGGTGTTGAGGAAGAAGT	0.617		NaN											0	0	0	0.008871	0	20	72				
TBC1D5	9779	broad.mit.edu	37	3	17300041	17300041	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:17300041C>G	uc003cbf.2	-	16	2953	c.1288G>C	c.(1288-1290)GAT>CAT	p.D430H	TBC1D5_uc010heu.2_Missense_Mutation_p.D17H|TBC1D5_uc010hev.2_Missense_Mutation_p.D430H|TBC1D5_uc003cbe.2_Missense_Mutation_p.D430H|TBC1D5_uc010hew.1_Missense_Mutation_p.D382H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	430						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TTGTAATAATCTAAATTTGGA	0.308		NaN											0	0	0	0.01441	0	62	208				
KAT2B	8850	broad.mit.edu	37	3	20082225	20082225	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:20082225C>G	uc003cbq.2	+	1	702	c.256C>G	c.(256-258)CCG>GCG	p.P86A		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	86					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACGCTCCGCTCCGCGGGCCAA	0.706		NaN											0	0	0	0.000602	0	4	27				
AZI2	64343	broad.mit.edu	37	3	28381983	28381983	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:28381983G>A	uc003ceb.2	-	2	658	c.126C>T	c.(124-126)GTC>GTT	p.V42V	AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.V42V|AZI2_uc003cee.3_Silent_p.V42V|AZI2_uc003ceg.2_Silent_p.V42V|AZI2_uc011axd.1_Silent_p.V42V|AZI2_uc003cef.2_Silent_p.V42V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	42	Potential.					mitochondrion|plasma membrane				ovary(2)	2						CATATGCAGTGACAAGAGCAA	0.333		NaN											0	0	0	0.005443	0	29	95				
UBP1	7342	broad.mit.edu	37	3	33450953	33450953	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33450953G>C	uc003cfq.3	-	6	1226	c.696C>G	c.(694-696)ATC>ATG	p.I232M	UBP1_uc003cfr.3_Missense_Mutation_p.I232M|UBP1_uc010hga.2_Missense_Mutation_p.I232M	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	232					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						TAAAAACTTTGATTTGGCAGC	0.418		NaN											0	0	0	0.011902	0	45	142				
UBP1	7342	broad.mit.edu	37	3	33458292	33458292	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:33458292C>G	uc003cfq.3	-	3	830	c.300G>C	c.(298-300)CGG>CGC	p.R100R	UBP1_uc003cfr.3_Silent_p.R100R|UBP1_uc010hga.2_Silent_p.R100R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	100					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						CACCCATTTTCCGATTATCCA	0.318		NaN											0	0	0	0.007291	0	27	79				
SCN11A	11280	broad.mit.edu	37	3	38921615	38921615	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:38921615C>G	uc011ays.1	-	19	3419	c.3220_splice	c.e19-1	p.I1074_splice	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCAAATATCTGAAATGAAA	0.318		NaN											0	0	0	0.004482	0	8	31				
CX3CR1	1524	broad.mit.edu	37	3	39307706	39307706	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:39307706T>A	uc003cjl.2	-	2	387	c.295A>T	c.(295-297)AAT>TAT	p.N99Y		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	99	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CACATGGCATTGTGGAGGCCC	0.463		NaN											0	0	0	0.007835	0	39	112				
ZNF620	253639	broad.mit.edu	37	3	40557421	40557421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:40557421C>G	uc003ckk.2	+	5	485	c.336C>G	c.(334-336)TTC>TTG	p.F112L	ZNF620_uc003ckl.2_5'UTR	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGAGTCCTTCAGACTGATGG	0.463		NaN											0	0	0	0.003163	0	16	52				
NKTR	4820	broad.mit.edu	37	3	42672757	42672757	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42672757G>C	uc003clo.2	+	8	646	c.499G>C	c.(499-501)GAT>CAT	p.D167H	NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.D57H|NKTR_uc003clq.1_Missense_Mutation_p.D57H|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	167	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACCATATGCAGATGTGCGAGT	0.388		NaN											0	0	0	0.00499	0	17	50				
KBTBD5	131377	broad.mit.edu	37	3	42730464	42730464	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:42730464G>A	uc003clv.1	+	4	1625	c.1525G>A	c.(1525-1527)GAT>AAT	p.D509N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	509	Kelch 3.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CACTGTCCATGATGGCCGCAT	0.557		NaN											0	0	0	0.014323	0	19	55				
KIF15	56992	broad.mit.edu	37	3	44893313	44893313	+	Missense_Mutation	SNP	G	G	C	rs77808243		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:44893313G>C	uc003cnx.3	+	33	3990	c.3841G>C	c.(3841-3843)GAG>CAG	p.E1281Q	KIF15_uc010hiq.2_Missense_Mutation_p.E1184Q|KIF15_uc010hir.2_Missense_Mutation_p.E329Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1281	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTACAACAAAGAGATGGAATG	0.373		NaN											0	0	0	0.013114	0	43	158				
FBXW12	285231	broad.mit.edu	37	3	48423544	48423544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48423544G>T	uc003csr.2	+	10	1450	c.1264G>T	c.(1264-1266)GAA>TAA	p.E422*	FBXW12_uc010hjv.2_Nonsense_Mutation_p.E403*|FBXW12_uc003css.2_Nonsense_Mutation_p.E352*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.E321*	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	422											0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTCACCTGGAAAACACGTG	0.428		NaN											1	0	9.31168e-06	0.001855	9.45431e-06	9	39				
COL7A1	1294	broad.mit.edu	37	3	48621376	48621376	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48621376C>T	uc003ctz.2	-	38	4236	c.4235G>A	c.(4234-4236)GGA>GAA	p.G1412E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1412	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCTGGTCCAGGGGGACC	0.652		NaN											0	0	0	0.004482	0	9	56				
UQCRC1	7384	broad.mit.edu	37	3	48641043	48641043	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48641043G>A	uc003cub.1	-	6	705	c.660C>T	c.(658-660)CTC>CTT	p.L220L	UQCRC1_uc003cua.1_Silent_p.L105L|UQCRC1_uc003cuc.1_Silent_p.L220L|UQCRC1_uc003cud.1_Silent_p.L220L	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	220					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AATGTGTGCTGAGGTACTCGG	0.532		NaN											0	0	0	0.00308	0	8	45				
CELSR3	1951	broad.mit.edu	37	3	48684260	48684260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:48684260G>A	uc003cul.2	-	21	7512	c.7231C>T	c.(7231-7233)CTC>TTC	p.L2411F	CELSR3_uc003cuf.1_Missense_Mutation_p.L2481F|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.L394F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2411	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTAAACGAGGAGAATGATA	0.607		NaN											0	0	0	0.004007	0	15	42				
BSN	8927	broad.mit.edu	37	3	49690134	49690134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49690134G>C	uc003cxe.3	+	5	3259	c.3145G>C	c.(3145-3147)GAA>CAA	p.E1049Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1049	Potential.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTGCGGGAGGAAGAGGAGCT	0.652		NaN											0	0	0	0.00308	0	8	29				
CAMKV	79012	broad.mit.edu	37	3	49899235	49899235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:49899235G>C	uc003cxt.1	-	4	484	c.291C>G	c.(289-291)ATC>ATG	p.I97M	CAMKV_uc011bcy.1_Missense_Mutation_p.I22M|CAMKV_uc003cxv.1_Missense_Mutation_p.I97M|CAMKV_uc003cxw.1_Translation_Start_Site|CAMKV_uc003cxx.1_Translation_Start_Site|CAMKV_uc003cxu.2_Missense_Mutation_p.I97M|CAMKV_uc011bcz.1_Missense_Mutation_p.I60M|CAMKV_uc011bda.1_Missense_Mutation_p.I97M|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	97	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCCAGGAAGATAAAGTACT	0.582		NaN											0	0	0	0.003163	0	14	65				
CYB561D2	11068	broad.mit.edu	37	3	50391174	50391174	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:50391174G>C	uc003dak.2	+	3	1244	c.668G>C	c.(667-669)TGA>TCA	p.*223S	NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Nonstop_Mutation_p.*223S|CYB561D2_uc003dam.2_Nonstop_Mutation_p.*223S	NM_007022	NP_008953	O14569	C56D2_HUMAN	cytochrome b-561 domain containing 2	223					electron transport chain|transport	integral to membrane	metal ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCCAACCATGAGCTCTTCCC	0.557		NaN											0	0	0	0.00333	0	21	96				
RFT1	91869	broad.mit.edu	37	3	53157763	53157763	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53157763C>T	uc003dgj.2	-	3	297	c.243G>A	c.(241-243)CAG>CAA	p.Q81Q	RFT1_uc003dgk.2_Intron	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	81					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGTTGAGGGTCTGGCTCCAGT	0.542		NaN											0	0	0	0.013537	0	13	49				
DCP1A	55802	broad.mit.edu	37	3	53326414	53326414	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:53326414C>T	uc003dgs.3	-	7	1161	c.1068G>A	c.(1066-1068)CTG>CTA	p.L356L	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTGGCTGGTTCAGGAGTGGAG	0.582		NaN											0	0	0	0.004656	0	25	66				
CCDC66	285331	broad.mit.edu	37	3	56647736	56647736	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:56647736G>A	uc003dhz.2	+	11	1611	c.1524G>A	c.(1522-1524)CAG>CAA	p.Q508Q	CCDC66_uc003dhy.2_Silent_p.Q144Q|CCDC66_uc003dhu.2_Silent_p.Q474Q|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_5'Flank	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	508	Potential.									breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAGAGATGCAGAAACAGTATG	0.343		NaN											0	0	0	0.00632	0	27	84				
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:81586104C>T	uc003dqg.2	-	14	2044	c.1761G>A	c.(1759-1761)ATG>ATA	p.M587I	GBE1_uc011bgm.1_Missense_Mutation_p.M546I	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413		NaN							Glycogen_Storage_Disease_type_IV				0	0	0	0.007413	0	19	75				
C3orf26	84319	broad.mit.edu	37	3	99865849	99865849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:99865849G>A	uc003dtl.2	+	2	240	c.97G>A	c.(97-99)GAA>AAA	p.E33K		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	33							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						AGGAGACACAGAAGTGATGCA	0.433		NaN											0	0	0	0.010729	0	9	49				
ZBTB11	27107	broad.mit.edu	37	3	101390113	101390113	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:101390113G>A	uc003dve.3	-	3	869	c.639C>T	c.(637-639)TTC>TTT	p.F213F	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TAACATCACAGAACTGGTTGG	0.373		NaN											0	0	0	0.003271	0	34	211				
CBLB	868	broad.mit.edu	37	3	105438984	105438984	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:105438984G>A	uc003dwc.2	-	10	1636	c.1314C>T	c.(1312-1314)ATC>ATT	p.I438I	CBLB_uc011bhi.1_Silent_p.I460I|CBLB_uc003dwd.1_Silent_p.I438I|CBLB_uc003dwe.1_Silent_p.I438I|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	438					cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AGGGGTCAATGATGCTGCAAC	0.498		NaN	Mis S		AML								0	0	0	0.004007	0	16	87				
ARHGAP31	57514	broad.mit.edu	37	3	119101938	119101938	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:119101938G>C	uc003ecj.3	+	6	1079	c.547G>C	c.(547-549)GAA>CAA	p.E183Q		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	183	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TAGGTCTAAAGAAATTGAAGC	0.463		NaN											0	0	0	0.00278	0	22	145				
GOLGB1	2804	broad.mit.edu	37	3	121400701	121400701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121400701C>G	uc003eei.3	-	15	8817	c.8691G>C	c.(8689-8691)TTG>TTC	p.L2897F	GOLGB1_uc010hrc.2_Missense_Mutation_p.L2902F|GOLGB1_uc003eej.3_Missense_Mutation_p.L2863F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2897	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GCAGATTCTTCAATTCCTTCA	0.368		NaN											0	0	0	0.006122	0	19	148				
GOLGB1	2804	broad.mit.edu	37	3	121417101	121417101	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:121417101G>T	uc003eei.3	-	13	2380	c.2254C>A	c.(2254-2256)CAG>AAG	p.Q752K	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q757K|GOLGB1_uc003eej.3_Missense_Mutation_p.Q718K|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q638K|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q716K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	752	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TCCTTCACCTGAGAGAGAAGC	0.418		NaN											1	0	1.30091e-30	0.006999	1.35951e-30	41	217				
KPNA1	3836	broad.mit.edu	37	3	122215299	122215299	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122215299C>G	uc003efd.1	-	2	150	c.114G>C	c.(112-114)CAG>CAC	p.Q38H	KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.Q38H	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	38	IBB.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		CTTCTCTTTTCTGCTTTCGTA	0.373		NaN											0	0	0	0.005443	0	26	183				
PARP9	83666	broad.mit.edu	37	3	122255822	122255822	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122255822G>C	uc010hri.2	-	9	2114	c.1969C>G	c.(1969-1971)CAA>GAA	p.Q657E	PARP9_uc003eff.3_Missense_Mutation_p.Q622E|PARP9_uc011bjs.1_Missense_Mutation_p.Q622E|PARP9_uc003efg.2_Missense_Mutation_p.Q202E|PARP9_uc003efi.2_Missense_Mutation_p.Q622E|PARP9_uc003efh.2_Missense_Mutation_p.Q657E|PARP9_uc003efj.2_Missense_Mutation_p.Q622E	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	657	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		TGTTTCTTTTGATCTAGAAGC	0.353		NaN											0	0	0	0.01441	0	50	290				
PARP14	54625	broad.mit.edu	37	3	122447406	122447406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122447406C>G	uc003efq.3	+	17	5427	c.5368C>G	c.(5368-5370)CAA>GAA	p.Q1790E	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q1507E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1790	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		TTATGACTACCAAGCATACCC	0.368		NaN											0	0	0	0.010771	0	43	256				
PDIA5	10954	broad.mit.edu	37	3	122865043	122865043	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:122865043A>T	uc003egc.1	+	13	1135	c.1079A>T	c.(1078-1080)AAT>ATT	p.N360I	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	360	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		TATTTTAAGAATGGAGAGAAA	0.468		NaN											0	0	0	0.00623	0	41	303				
ADCY5	111	broad.mit.edu	37	3	123051504	123051504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123051504G>C	uc003egh.1	-	4	1425	c.1425C>G	c.(1423-1425)ATC>ATG	p.I475M	ADCY5_uc003egg.1_Missense_Mutation_p.I108M|ADCY5_uc003egi.1_Missense_Mutation_p.I34M	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1.|Cytoplasmic (Potential).	Magnesium 2; via carbonyl oxygen (By similarity).			activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGAAGCCCTCGATGTCAGCAA	0.448		NaN											0	0	0	0.001168	0	5	60				
KALRN	8997	broad.mit.edu	37	3	123987680	123987680	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987680G>C	uc003ehg.2	+	5	668	c.541G>C	c.(541-543)GAG>CAG	p.E181Q	KALRN_uc010hrv.1_Missense_Mutation_p.E181Q|KALRN_uc003ehf.1_Missense_Mutation_p.E181Q|KALRN_uc011bjy.1_Missense_Mutation_p.E181Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	181					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTACAACCATGAGGAGTGGAT	0.612		NaN											0	0	0	0.01441	0	63	88				
KALRN	8997	broad.mit.edu	37	3	123987800	123987800	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:123987800G>A	uc003ehg.2	+	5	788	c.661G>A	c.(661-663)GAG>AAG	p.E221K	KALRN_uc010hrv.1_Missense_Mutation_p.E221K|KALRN_uc003ehf.1_Missense_Mutation_p.E221K|KALRN_uc011bjy.1_Missense_Mutation_p.E221K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	221	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGTGGATGTGGAGGGCTCTCG	0.627		NaN											0	0	0	0.007291	0	30	26				
C3orf37	56941	broad.mit.edu	37	3	129020945	129020945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129020945C>G	uc003elt.2	+	6	876	c.788C>G	c.(787-789)ACT>AGT	p.T263S	C3orf37_uc003elu.2_Missense_Mutation_p.T221S|C3orf37_uc003elv.2_Missense_Mutation_p.T263S|C3orf37_uc003elw.2_Missense_Mutation_p.T263S	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	263										ovary(1)	1						CGAAACAACACTCCTGAGTGT	0.483		NaN											0	0	0	0.003755	0	33	189				
C3orf37	56941	broad.mit.edu	37	3	129023525	129023525	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129023525G>C	uc003elt.2	+	7	1010	c.922G>C	c.(922-924)GAG>CAG	p.E308Q	C3orf37_uc003elu.2_Missense_Mutation_p.E266Q|C3orf37_uc003elv.2_Missense_Mutation_p.E308Q|C3orf37_uc003elw.2_Missense_Mutation_p.E308Q	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	308										ovary(1)	1						TCAAAAGGAAGAGTCAGATGT	0.532		NaN											0	0	0	0.012213	0	32	135				
PLXND1	23129	broad.mit.edu	37	3	129282030	129282030	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:129282030G>A	uc003emx.2	-	26	4675	c.4575C>T	c.(4573-4575)ATC>ATT	p.I1525I	PLXND1_uc011blb.1_Silent_p.I193I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1525	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGCCCTTGTTGATTTGCTGCT	0.617		NaN											0	0	0	0.013537	0	12	44				
COL6A6	131873	broad.mit.edu	37	3	130290018	130290018	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130290018G>A	uc010htl.2	+	6	2789	c.2758G>A	c.(2758-2760)GAT>AAT	p.D920N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	920	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGTGATCACCGATGGGGAATC	0.557		NaN											0	0	0	0.003163	0	15	68				
PIK3R4	30849	broad.mit.edu	37	3	130464024	130464024	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:130464024G>C	uc003enj.2	-	2	620	c.39C>G	c.(37-39)ATC>ATG	p.I13M		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	13					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CTACAGAAAGGATCTGGGAGG	0.398		NaN											0	0	0	0.00499	0	16	99				
BFSP2	8419	broad.mit.edu	37	3	133185754	133185754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:133185754C>T	uc003epn.1	+	5	1112	c.974C>T	c.(973-975)TCG>TTG	p.S325L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	325	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						CACAACACTTCGTGCCAAGTC	0.562		NaN											0	0	0	0.00278	0	23	143				
TXNDC6	347736	broad.mit.edu	37	3	138033219	138033219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138033219C>T	uc003esg.2	-	6	443	c.415G>A	c.(415-417)GAA>AAA	p.E139K	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E54K|TXNDC6_uc003ese.1_Missense_Mutation_p.E78K	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	139					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						GAAACACATTCATCTTCATCA	0.358		NaN											0	0	0	0.010771	0	43	295				
PIK3CB	5291	broad.mit.edu	37	3	138374293	138374293	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374293C>T	uc011bmq.1	-	22	3151	c.3151G>A	c.(3151-3153)GAA>AAA	p.E1051K	PIK3CB_uc011bmn.1_Missense_Mutation_p.E563K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E502K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E638K|PIK3CB_uc003est.1_RNA	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	1051	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GTCCAGCTTTCCCTGAGCGCC	0.423		NaN											0	0	0	0.01441	0	56	116				
PIK3CB	5291	broad.mit.edu	37	3	138374305	138374305	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374305C>T	uc011bmq.1	-	22	3139	c.3139G>A	c.(3139-3141)GAG>AAG	p.E1047K	PIK3CB_uc011bmn.1_Missense_Mutation_p.E559K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E498K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E634K|PIK3CB_uc003est.1_RNA	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	1047	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						CTGAGCGCCTCATCAAATTTT	0.408		NaN											0	0	0	0.01441	0	56	117				
PIK3CB	5291	broad.mit.edu	37	3	138374308	138374308	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138374308C>T	uc011bmq.1	-	22	3136	c.3136G>A	c.(3136-3138)GAT>AAT	p.D1046N	PIK3CB_uc011bmn.1_Missense_Mutation_p.D558N|PIK3CB_uc011bmo.1_Missense_Mutation_p.D497N|PIK3CB_uc011bmp.1_Missense_Mutation_p.D633N|PIK3CB_uc003est.1_RNA	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	1046	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGCGCCTCATCAAATTTTTGC	0.408		NaN											0	0	0	0.01441	0	56	118				
PIK3CB	5291	broad.mit.edu	37	3	138433362	138433362	+	Missense_Mutation	SNP	G	G	A	rs143122477	by1000genomes	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:138433362G>A	uc011bmq.1	-	7	1250	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	PIK3CB_uc011bmo.1_Translation_Start_Site|PIK3CB_uc011bmp.1_Missense_Mutation_p.T21M	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	417	Nuclear localization signal.|C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AATAGTTTTCGTTGATTTCTT	0.318		NaN											0	0	0	0.01441	0	54	56				
CLSTN2	64084	broad.mit.edu	37	3	140185546	140185546	+	Silent	SNP	C	C	T	rs139804872	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140185546C>T	uc003etn.2	+	8	1507	c.1317C>T	c.(1315-1317)CCC>CCT	p.P439P	CLSTN2_uc003etm.2_Silent_p.P439P	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	439	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CCTTTCGCCCCGCGGAGTTCC	0.567		NaN								HNSCC(16;0.037)			0	0	0	0.004007	0	15	105				
TRIM42	287015	broad.mit.edu	37	3	140401335	140401335	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:140401335G>C	uc003eto.1	+	2	564	c.373G>C	c.(373-375)GAT>CAT	p.D125H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	125						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						TGGGAGCAGCGATACCCAGGT	0.557		NaN											0	0	0	0.010504	0	15	154				
COMMD2	51122	broad.mit.edu	37	3	149459490	149459490	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:149459490G>A	uc003exk.2	-	5	465	c.418C>T	c.(418-420)CTC>TTC	p.L140F	COMMD2_uc003exj.1_5'Flank	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	140	COMM.						protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTTGCCTGAGACTTCTACTT	0.333		NaN											0	0	0	0.00278	0	23	214				
PLCH1	23007	broad.mit.edu	37	3	155199659	155199659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:155199659G>C	uc011bok.1	-	23	4457	c.4180C>G	c.(4180-4182)CAG>GAG	p.Q1394E	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.Q1356E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1394					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCACACCCTGATTGTACTTG	0.403		NaN											0	0	0	0.013726	0	32	183				
TRIM59	286827	broad.mit.edu	37	3	160156857	160156857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:160156857G>A	uc003fdm.2	-	3	310	c.115C>T	c.(115-117)CAG>TAG	p.Q39*	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	39	RING-type.					integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCAGATGCCTGAAGAATGTTT	0.368		NaN											0	0	0	0.008871	0	18	131				
PDCD10	11235	broad.mit.edu	37	3	167414911	167414911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167414911C>G	uc003fex.2	-	5	552	c.154G>C	c.(154-156)GAA>CAA	p.E52Q	PDCD10_uc003fez.2_Missense_Mutation_p.E52Q|PDCD10_uc003fey.2_Missense_Mutation_p.E52Q	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	52					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2						TTTTCTTTTTCAGCCTATAAT	0.343		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	0.006122	0	18	89				
GOLIM4	27333	broad.mit.edu	37	3	167759263	167759263	+	Splice_Site	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:167759263C>G	uc003ffe.2	-	6	862	c.518_splice	c.e6-1	p.E173_splice	GOLIM4_uc011bpe.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpf.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpg.1_Splice_Site_p.E173_splice	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4						transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TATACAGTCTCTATTTTAGAA	0.318		NaN											0	0	0	0.010729	0	12	81				
MECOM	2122	broad.mit.edu	37	3	168807914	168807915	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:168807914_168807915TC>AT	uc003ffi.3	-	14	2979_2980	c.2710_2711GA>AT	c.(2710-2712)GAA>ATA	p.E904I	MECOM_uc010hwk.1_Missense_Mutation_p.E918I|MECOM_uc003ffj.3_Missense_Mutation_p.E969I|MECOM_uc011bpi.1_Missense_Mutation_p.E896I|MECOM_uc003ffn.3_Missense_Mutation_p.E904I|MECOM_uc003ffk.2_Missense_Mutation_p.E895I|MECOM_uc003ffl.2_Missense_Mutation_p.E1055I|MECOM_uc011bpj.1_Missense_Mutation_p.E1092I|MECOM_uc011bpk.1_Missense_Mutation_p.E894I	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	904	Asp/Glu-rich (acidic).				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						ATCATTGTCTTCATCCTCCTCA	0.401		NaN											0	0	0	0.004672	0	160	226				
ECE2	9718	broad.mit.edu	37	3	184009972	184009972	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184009972C>T	uc003fni.3	+	19	2636	c.2598C>T	c.(2596-2598)TTC>TTT	p.F866F	ECE2_uc003fnl.3_Silent_p.F794F|ECE2_uc003fnm.3_Silent_p.F748F|ECE2_uc003fnk.3_Silent_p.F719F	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	866	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGCACTTCGGCTGCCCTG	0.657		NaN											0	0	0	0.009535	0	29	154				
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:184870595G>A	uc003fpd.2	-	1	208	c.17C>T	c.(16-18)TCG>TTG	p.S6L		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	6											0						CGACGCCGGCGAGGCCGCCGC	0.716		NaN											0	0	0	0.004656	0	23	27				
DNAJB11	51726	broad.mit.edu	37	3	186299204	186299204	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186299204G>A	uc003fqi.2	+	5	721	c.501G>A	c.(499-501)CGG>CGA	p.R167R		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	167					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTGGCAAACGGAAGTGCAATT	0.517		NaN											0	0	0	0.00333	0	24	158				
RFC4	5984	broad.mit.edu	37	3	186510677	186510677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186510677G>A	uc003fqz.2	-	6	693	c.470C>T	c.(469-471)TCA>TTA	p.S157L	RFC4_uc011bsc.1_Missense_Mutation_p.S157L|RFC4_uc011bsd.1_Missense_Mutation_p.S157L	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	157					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTGAGCAGCTGAGGTCATAGA	0.428		NaN											0	0	0	0.013537	0	13	87				
RFC4	5984	broad.mit.edu	37	3	186512523	186512523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:186512523C>T	uc003fqz.2	-	5	557	c.334G>A	c.(334-336)GAT>AAT	p.D112N	RFC4_uc011bsc.1_Missense_Mutation_p.D112N|RFC4_uc011bsd.1_Missense_Mutation_p.D112N	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	112					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACGTTCATCAGATGCATTT	0.368		NaN											0	0	0	0.00499	0	16	101				
TPRG1	285386	broad.mit.edu	37	3	188925327	188925327	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:188925327C>G	uc003frv.1	+	7	1381	c.154C>G	c.(154-156)CTT>GTT	p.L52V	TPRG1_uc003frw.1_Missense_Mutation_p.L52V	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	52											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGAATCAACTCTTTACCCCAA	0.438		NaN											0	0	0	0.01441	0	48	185				
OPA1	4976	broad.mit.edu	37	3	193353228	193353228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193353228G>A	uc003ftm.2	+	7	934	c.700G>A	c.(700-702)GAA>AAA	p.E234K	OPA1_uc003ftg.2_Missense_Mutation_p.E289K|OPA1_uc003fth.2_Missense_Mutation_p.E253K|OPA1_uc003fti.2_Missense_Mutation_p.E271K|OPA1_uc003ftj.2_Missense_Mutation_p.E252K|OPA1_uc003ftk.2_Missense_Mutation_p.E235K|OPA1_uc003ftl.2_Missense_Mutation_p.E216K|OPA1_uc003ftn.2_Missense_Mutation_p.E198K	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	234	Mitochondrial intermembrane (By similarity).|Potential.				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAGAATCTTGGAACGATTAGA	0.289		NaN											0	0	0	0.007413	0	18	120				
OPA1	4976	broad.mit.edu	37	3	193364936	193364936	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:193364936G>C	uc003ftm.2	+	17	1906	c.1672G>C	c.(1672-1674)GAG>CAG	p.E558Q	OPA1_uc003ftg.2_Missense_Mutation_p.E613Q|OPA1_uc003fth.2_Missense_Mutation_p.E577Q|OPA1_uc003fti.2_Missense_Mutation_p.E595Q|OPA1_uc003ftj.2_Missense_Mutation_p.E576Q|OPA1_uc003ftk.2_Missense_Mutation_p.E559Q|OPA1_uc003ftl.2_Missense_Mutation_p.E540Q|OPA1_uc003ftn.2_Missense_Mutation_p.E522Q	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	558	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGTACGAGAGTCTGTTGA	0.358		NaN											0	0	0	0.000602	0	4	63				
DLG1	1739	broad.mit.edu	37	3	196778504	196778504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr3:196778504C>T	uc003fxo.3	-	25	2742	c.2552G>A	c.(2551-2553)AGA>AAA	p.R851K	DLG1_uc011bub.1_Missense_Mutation_p.R747K|DLG1_uc011buc.1_Missense_Mutation_p.R735K|DLG1_uc011bud.1_Missense_Mutation_p.R534K|DLG1_uc003fxn.3_Missense_Mutation_p.R873K|DLG1_uc011bue.1_Missense_Mutation_p.R839K|DLG1_uc010ial.2_Missense_Mutation_p.R851K	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	851	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AAATGTTTTTCTGGCTTGTTC	0.328		NaN											0	0	0	0.00245	0	13	137				
HAUS3	79441	broad.mit.edu	37	4	2233842	2233842	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:2233842G>C	uc003ges.1	-	5	1854	c.1624C>G	c.(1624-1626)CTA>GTA	p.L542V	POLN_uc003ger.2_5'Flank|POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.L542V	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	542					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						AGATGATTTAGCTTATTCAGT	0.264		NaN											0	0	0	0.013537	0	10	60				
HTT	3064	broad.mit.edu	37	4	3208288	3208288	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:3208288C>T	uc011bvq.1	+	44	5935	c.5790C>T	c.(5788-5790)ATC>ATT	p.I1930I		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1928					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGATCTGATCAGCCTTTCCC	0.473		NaN											0	0	0	0.00278	0	25	112				
MAN2B2	23324	broad.mit.edu	37	4	6606942	6606942	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:6606942G>A	uc003gjf.1	+	11	1736	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	MAN2B2_uc003gje.1_Missense_Mutation_p.R567H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R516H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	567					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CAATTTGGCCGCAGGCTGAGG	0.617		NaN											0	0	0	0.014323	0	14	35				
CC2D2A	57545	broad.mit.edu	37	4	15529226	15529226	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:15529226G>A	uc010idv.2	+	13	1551	c.1306G>A	c.(1306-1308)GAC>AAC	p.D436N	CC2D2A_uc003gnx.2_Missense_Mutation_p.D387N|CC2D2A_uc003gnv.2_Missense_Mutation_p.D436N	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	436					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						CCAGTTATATGACCAGTACCT	0.408		NaN											0	0	0	0.001984	0	6	31				
PCDH7	5099	broad.mit.edu	37	4	30723906	30723906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:30723906C>T	uc003gsk.1	+	1	1870	c.862C>T	c.(862-864)CGC>TGC	p.R288C	PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288C	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	288	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CGACCCGCCTCGCTCCTCGCA	0.672		NaN											0	0	0	0.004672	0	3	5				
GABRG1	2565	broad.mit.edu	37	4	46060556	46060556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46060556G>C	uc003gxb.2	-	6	861	c.709C>G	c.(709-711)CAG>GAG	p.Q237E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	237	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AATGCAAACTGATATAATCTC	0.353		NaN											0	0	0	0.00499	0	16	74				
GABRA4	2557	broad.mit.edu	37	4	46967025	46967025	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:46967025G>C	uc003gxg.2	-	8	1235	c.1096C>G	c.(1096-1098)CCA>GCA	p.P366A		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	366	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCTGCACTGGAGCAGCGGGA	0.433		NaN											0	0	0	0.00278	0	20	83				
OCIAD2	132299	broad.mit.edu	37	4	48901920	48901920	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:48901920G>C	uc003gyt.2	-	3	292	c.89C>G	c.(88-90)TCA>TGA	p.S30*	OCIAD2_uc003gyu.2_Nonsense_Mutation_p.S30*	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	30	OCIA.					endosome					0						GTGCAGTTTTGATTTTGGACA	0.393		NaN											0	0	0	0.010729	0	10	112				
TMPRSS11F	389208	broad.mit.edu	37	4	68935699	68935699	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:68935699G>C	uc003hdt.1	-	6	590	c.541C>G	c.(541-543)CTT>GTT	p.L181V	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	181	Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTGTTGAGAAGATTCCTCATC	0.333		NaN											0	0	0	0.013114	0	38	205				
IL8	3576	broad.mit.edu	37	4	74607297	74607297	+	Missense_Mutation	SNP	C	C	G	rs149273289		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74607297C>G	uc003hhe.2	+	2	204	c.103C>G	c.(103-105)CAG>GAG	p.Q35E	IL8_uc011cbh.1_Missense_Mutation_p.Q35E	NM_000584	NP_000575	P10145	IL8_HUMAN	interleukin 8 precursor	35					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding			ovary(2)	2	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	ACTTAGATGTCAGTGCATAAA	0.423		NaN											0	0	0	0.006122	0	16	58				
CXCL5	6374	broad.mit.edu	37	4	74863775	74863775	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:74863775G>C	uc003hhk.2	-	3	398	c.280C>G	c.(280-282)CCA>GCA	p.P94A		NM_002994	NP_002985	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5 precursor	94					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity				0	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGGGCTTCTGGATCAAGACAA	0.433		NaN											0	0	0	0.012213	0	32	137				
HPSE	10855	broad.mit.edu	37	4	84230599	84230599	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84230599C>T	uc003hoj.3	-	7	1039	c.940G>A	c.(940-942)GAT>AAT	p.D314N	HPSE_uc010ika.2_Missense_Mutation_p.D256N|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D57N|HPSE_uc011cct.1_Missense_Mutation_p.D314N|HPSE_uc003hok.3_Missense_Mutation_p.D314N	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	314					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCCAATACATCAGGGTTTAGA	0.279		NaN											0	0	0	0.006122	0	15	74				
HPSE	10855	broad.mit.edu	37	4	84231203	84231203	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:84231203C>G	uc003hoj.3	-	6	970	c.871G>C	c.(871-873)GAT>CAT	p.D291H	HPSE_uc010ika.2_Missense_Mutation_p.D233H|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D34H|HPSE_uc011cct.1_Missense_Mutation_p.D291H|HPSE_uc003hok.3_Missense_Mutation_p.D291H	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	291				D -> G (in Ref. 9; BAD96706).	carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTAACTGAATCAATCACTTCT	0.308		NaN											0	0	0	0.005524	0	34	185				
HPGDS	27306	broad.mit.edu	37	4	95223298	95223298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:95223298G>A	uc003hte.1	-	5	525	c.434C>T	c.(433-435)TCT>TTT	p.S145F		NM_014485	NP_055300	O60760	HPGDS_HUMAN	prostaglandin D2 synthase, hematopoietic	145	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			ovary(1)	1					Glutathione(DB00143)	CATACTCACAGAGTTACCAAT	0.363		NaN											0	0	0	0.01441	0	76	195				
SEC24B	10427	broad.mit.edu	37	4	110442741	110442741	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:110442741C>T	uc003hzk.2	+	14	2522	c.2467C>T	c.(2467-2469)CTG>TTG	p.L823L	SEC24B_uc003hzl.2_Silent_p.L788L|SEC24B_uc011cfp.1_Silent_p.L853L|SEC24B_uc011cfq.1_Silent_p.L822L|SEC24B_uc011cfr.1_Silent_p.L787L	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	823					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCAGGACTTCTGCAATCCAG	0.383		NaN											0	0	0	0.001855	0	11	31				
NDST3	9348	broad.mit.edu	37	4	119163257	119163257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:119163257G>C	uc003ibx.2	+	12	2755	c.2352G>C	c.(2350-2352)CAG>CAC	p.Q784H		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	784	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						ATGAAGTACAGAAGTTTCTAG	0.303		NaN											0	0	0	0.01441	0	46	146				
FAT4	79633	broad.mit.edu	37	4	126241888	126241888	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126241888C>T	uc003ifj.3	+	1	4322	c.4322C>T	c.(4321-4323)TCA>TTA	p.S1441L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1441	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCTGTCATTTCAGTGACTGCA	0.418		NaN											0	0	0	0.009718	0	38	149				
FAT4	79633	broad.mit.edu	37	4	126371358	126371358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371358G>C	uc003ifj.3	+	9	9187	c.9187G>C	c.(9187-9189)GAT>CAT	p.D3063H	FAT4_uc011cgp.1_Missense_Mutation_p.D1361H|FAT4_uc003ifi.1_Missense_Mutation_p.D541H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3063	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACTGCAAAGGATAAGGGAAA	0.418		NaN											0	0	0	0.004656	0	25	65				
FAT4	79633	broad.mit.edu	37	4	126371891	126371891	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:126371891C>G	uc003ifj.3	+	9	9720	c.9720C>G	c.(9718-9720)CTC>CTG	p.L3240L	FAT4_uc011cgp.1_Silent_p.L1538L|FAT4_uc003ifi.1_Silent_p.L718L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3240	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACAGTGACCTCTTTGTCATTG	0.443		NaN											0	0	0	0.012319	0	23	117				
C4orf29	80167	broad.mit.edu	37	4	128938605	128938605	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:128938605G>A	uc003ifr.2	+	9	876	c.558G>A	c.(556-558)GAG>GAA	p.E186E	C4orf29_uc003ifs.2_Silent_p.E80E|C4orf29_uc003ift.2_Silent_p.E17E|C4orf29_uc003ifu.2_Silent_p.E17E|C4orf29_uc010inz.2_Intron|C4orf29_uc003ifv.2_Silent_p.E17E	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	hypothetical protein LOC80167 precursor	186						extracellular region				ovary(1)	1						ACTGGCTAGAGAGGGAAGGTT	0.418		NaN											0	0	0	0.00308	0	8	16				
ZNF330	27309	broad.mit.edu	37	4	142152618	142152618	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:142152618G>C	uc003iiq.3	+	8	769	c.549G>C	c.(547-549)CAG>CAC	p.Q183H	ZNF330_uc011chl.1_Missense_Mutation_p.Q123H	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	183	C4-type 4 (Potential).					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					GGCTTGGTCAGCACTCATGTC	0.353		NaN											0	0	0	0.011902	0	43	119				
USP38	84640	broad.mit.edu	37	4	144107121	144107121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:144107121G>A	uc003ijb.2	+	1	1052	c.518G>A	c.(517-519)CGA>CAA	p.R173Q	USP38_uc003ija.3_Missense_Mutation_p.R173Q|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	173					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					CAGCTGGTTCGAACGATAGGC	0.537		NaN											0	0	0	0.005524	0	37	135				
PRSS48	345062	broad.mit.edu	37	4	152204409	152204409	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:152204409G>T	uc011cif.1	+	4	622	c.622G>T	c.(622-624)GAT>TAT	p.D208Y	PRSS48_uc011cig.1_Missense_Mutation_p.D65Y	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	208	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TTGTGCTGGTGATACTCAAAA	0.413		NaN											1	0	1.28384e-07	0.012319	1.30923e-07	22	81				
FBXW7	55294	broad.mit.edu	37	4	153249501	153249501	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249501G>A	uc003ims.2	-	9	1426	c.1277C>T	c.(1276-1278)TCA>TTA	p.S426L	FBXW7_uc011cii.1_Missense_Mutation_p.S426L|FBXW7_uc003imt.2_Missense_Mutation_p.S426L|FBXW7_uc011cih.1_Missense_Mutation_p.S250L|FBXW7_uc003imq.2_Missense_Mutation_p.S346L|FBXW7_uc003imr.2_Missense_Mutation_p.S308L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	426	WD 2.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATTTGTGATGACCATACTCC	0.378		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.01441	0	67	229		Valid		
RAPGEF2	9693	broad.mit.edu	37	4	160260433	160260433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:160260433G>T	uc003iqg.3	+	13	2288	c.1978G>T	c.(1978-1980)GAG>TAG	p.E660*		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	660	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTCACACCTGAGGGAGTAAT	0.433		NaN											1	0	4.86159e-25	0.01441	5.0578e-25	50	202				
KLHL2	11275	broad.mit.edu	37	4	166220763	166220763	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:166220763G>T	uc003irb.2	+	8	1135	c.876G>T	c.(874-876)ATG>ATT	p.M292I	KLHL2_uc011cjm.1_Missense_Mutation_p.M296I|KLHL2_uc003irc.2_Missense_Mutation_p.M204I|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	292					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTATATTAATGAAGAGTGTCC	0.433		NaN											1	0	7.07758e-08	0.004656	7.22552e-08	27	69				
DDX60	55601	broad.mit.edu	37	4	169215078	169215078	+	Missense_Mutation	SNP	G	G	C	rs138195535		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:169215078G>C	uc003irp.2	-	7	1034	c.742C>G	c.(742-744)CTG>GTG	p.L248V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	248							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTGTAAGCAGAGATACAGTC	0.323		NaN											0	0	0	0.00278	0	23	92				
WDR17	116966	broad.mit.edu	37	4	177052884	177052884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:177052884G>C	uc003iuj.2	+	8	1321	c.1165G>C	c.(1165-1167)GAC>CAC	p.D389H	WDR17_uc003iuk.2_Missense_Mutation_p.D365H|WDR17_uc003ium.3_Missense_Mutation_p.D365H|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	389										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTTCTTAGAGACTTGGTATG	0.338		NaN											0	0	0	0.00499	0	16	252				
DCTD	1635	broad.mit.edu	37	4	183836719	183836719	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:183836719C>G	uc003ivf.2	-	2	177	c.3G>C	c.(1-3)ATG>ATC	p.M1I	DCTD_uc003ivg.2_Missense_Mutation_p.M12I|DCTD_uc010irw.2_5'UTR|DCTD_uc003ivh.2_5'UTR	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	1					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		AAACTTCACTCATGTTGGGTC	0.398		NaN											0	0	0	0.009535	0	29	111				
WWC2	80014	broad.mit.edu	37	4	184233512	184233512	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:184233512G>C	uc010irx.2	+	22	3585	c.3403G>C	c.(3403-3405)GAG>CAG	p.E1135Q	WWC2_uc003ivk.3_Missense_Mutation_p.E930Q|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E817Q|WWC2_uc003ivn.3_Missense_Mutation_p.E650Q|WWC2_uc010irz.2_Missense_Mutation_p.E476Q|WWC2_uc003ivo.3_Missense_Mutation_p.E263Q	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1135	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTCCAAAGAAGAGCAGAAGCA	0.478		NaN											0	0	0	0.003755	0	33	132				
SNX25	83891	broad.mit.edu	37	4	186188198	186188198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:186188198G>A	uc003ixh.2	+	5	677	c.488G>A	c.(487-489)AGA>AAA	p.R163K		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	163	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTGGCGTACAGAGAGCAAATG	0.458		NaN											0	0	0	0.01441	0	53	146				
CEP72	55722	broad.mit.edu	37	5	637659	637659	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:637659C>G	uc003jbf.2	+	7	1004	c.932C>G	c.(931-933)TCT>TGT	p.S311C	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	311					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACTCGGCCTCTTCTCAGAAG	0.532		NaN											0	0	0	0.006122	0	16	66				
SLC12A7	10723	broad.mit.edu	37	5	1064231	1064231	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1064231G>C	uc003jbu.2	-	19	2640	c.2574C>G	c.(2572-2574)CTC>CTG	p.L858L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	858	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCAGCATGAGCATGCCGC	0.697		NaN											0	0	0	0.000602	0	5	20				
SLC6A19	340024	broad.mit.edu	37	5	1221314	1221314	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:1221314C>T	uc003jbw.3	+	11	1643	c.1587C>T	c.(1585-1587)TTC>TTT	p.F529F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	529	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAACATCTTCTGGCAAGTCA	0.547		NaN											0	0	0	0.008291	0	10	32				
ADCY2	108	broad.mit.edu	37	5	7816985	7816985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:7816985G>A	uc003jdz.1	+	23	2957	c.2890G>A	c.(2890-2892)GAG>AAG	p.E964K	ADCY2_uc011cmo.1_Missense_Mutation_p.E784K|ADCY2_uc010itm.1_Missense_Mutation_p.E160K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	964	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCAGGAGCCCGAGCGGCAGTA	0.502		NaN									OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	20	89				
MARCH6	10299	broad.mit.edu	37	5	10403539	10403539	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:10403539G>C	uc003jet.1	+	15	1401	c.1218G>C	c.(1216-1218)CTG>CTC	p.L406L	MARCH6_uc011cmu.1_Silent_p.L358L|MARCH6_uc003jeu.1_Silent_p.L104L|MARCH6_uc011cmv.1_Silent_p.L301L	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	406	Extracellular (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ATGCTACTCTGAAAGATCGAG	0.418		NaN											0	0	0	0.007291	0	28	79				
MARCH11	441061	broad.mit.edu	37	5	16177875	16177875	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:16177875C>T	uc003jfo.2	-	2	866	c.653G>A	c.(652-654)AGA>AAA	p.R218K	uc003jfp.2_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	218	RING-CH-type.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						AACATGGTATCTATAACAGCA	0.398		NaN											0	0	0	0.001855	0	13	51				
PTGER4	5734	broad.mit.edu	37	5	40692015	40692015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:40692015G>C	uc003jlz.2	+	3	1594	c.1002G>C	c.(1000-1002)AAG>AAC	p.K334N		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	334	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TCCTGAGAAAGACAGTGCTCA	0.507		NaN											0	0	0	0.01441	0	54	145				
GPBP1	65056	broad.mit.edu	37	5	56545357	56545357	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:56545357G>C	uc003jrh.3	+	9	2200	c.926G>C	c.(925-927)AGA>ACA	p.R309T	GPBP1_uc010iwg.2_Missense_Mutation_p.R329T|GPBP1_uc003jri.3_Missense_Mutation_p.R138T|GPBP1_uc003jrj.3_Missense_Mutation_p.R301T|GPBP1_uc003jrk.3_Missense_Mutation_p.R316T|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAAGAGACAGAGTAGAAGAG	0.373		NaN											0	0	0	0.00499	0	17	48				
SLC30A5	64924	broad.mit.edu	37	5	68412387	68412387	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68412387G>A	uc003jvh.2	+	10	1440	c.1239G>A	c.(1237-1239)GAG>GAA	p.E413E	SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Silent_p.E142E|SLC30A5_uc003jvi.2_Silent_p.E242E	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	413	Cytoplasmic (Potential).				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTGAGGAGAGTGACTCTA	0.328		NaN											0	0	0	0.008291	0	10	68				
CCDC125	202243	broad.mit.edu	37	5	68616292	68616292	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:68616292C>A	uc003jvv.1	-	1	119	c.76G>T	c.(76-78)GGT>TGT	p.G26C	CCDC125_uc003jvx.1_Missense_Mutation_p.G26C|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Missense_Mutation_p.G26C	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	26						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CCTAAATCACCTTCTGTCATG	0.433		NaN											1	0	6.44725e-10	0.014323	6.60381e-10	21	137				
MAP1B	4131	broad.mit.edu	37	5	71491837	71491837	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:71491837C>T	uc003kbw.3	+	5	2896	c.2655C>T	c.(2653-2655)ACC>ACT	p.T885T	MAP1B_uc010iyw.1_Silent_p.T902T|MAP1B_uc010iyx.1_Silent_p.T759T|MAP1B_uc010iyy.1_Silent_p.T759T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	885						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGAAGTCACCAAAGGTCCTG	0.547		NaN											0	0	0	0.01441	0	50	181				
BHMT2	23743	broad.mit.edu	37	5	78373343	78373343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:78373343G>C	uc003kft.2	+	2	97	c.74G>C	c.(73-75)GGA>GCA	p.G25A	BHMT2_uc011cth.1_Missense_Mutation_p.G25A	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	25	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGTGATTGGAGATGGCAGC	0.488		NaN											0	0	0	0.004878	0	38	159				
CMYA5	202333	broad.mit.edu	37	5	79027767	79027767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:79027767C>T	uc003kgc.2	+	2	3251	c.3179C>T	c.(3178-3180)TCA>TTA	p.S1060L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1060						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTCAGTTCATCACAGAAG	0.428		NaN											0	0	0	0.008291	0	9	36				
GPR98	84059	broad.mit.edu	37	5	90449160	90449160	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:90449160G>A	uc003kju.2	+	89	18843	c.18747G>A	c.(18745-18747)CTG>CTA	p.L6249L	GPR98_uc003kjt.2_Silent_p.L3955L|GPR98_uc003kjw.2_Silent_p.L1910L|GPR98_uc003kjx.2_Silent_p.L277L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6249	Cytoplasmic (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGTCACTGATAGCCGATG	0.478		NaN											0	0	0	0.000602	0	5	27				
CHD1	1105	broad.mit.edu	37	5	98207807	98207807	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:98207807T>C	uc003knf.2	-	27	3957	c.3809A>G	c.(3808-3810)TAT>TGT	p.Y1270C	CHD1_uc010jbn.2_Translation_Start_Site	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1270					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAGCTTCCATATCCATATTC	0.353		NaN											0	0	0	0.012213	0	34	144				
SLCO4C1	353189	broad.mit.edu	37	5	101593786	101593786	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:101593786C>G	uc003knm.2	-	7	1421	c.1134G>C	c.(1132-1134)TTG>TTC	p.L378F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	378	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATTCTTCATCAAATTCTAAA	0.274		NaN											0	0	0	0.00278	0	23	55				
NUDT12	83594	broad.mit.edu	37	5	102891757	102891757	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:102891757C>T	uc003koi.2	-	4	932	c.839G>A	c.(838-840)CGA>CAA	p.R280Q	NUDT12_uc011cvb.1_Missense_Mutation_p.R262Q	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	280						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AAACTTGTATCGACTGTGCCA	0.353		NaN											0	0	0	0.012319	0	19	92				
FER	2241	broad.mit.edu	37	5	108281850	108281850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:108281850C>G	uc003kop.1	+	11	1640	c.1256C>G	c.(1255-1257)TCC>TGC	p.S419C	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.S244C	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	419					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAGAGGCTATCCAAATTTGAA	0.378		NaN											0	0	0	0.004878	0	32	112				
CAMK4	814	broad.mit.edu	37	5	110818485	110818485	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:110818485C>T	uc011cvj.1	+	11	930	c.831C>T	c.(829-831)GTC>GTT	p.V277V	CAMK4_uc003kpf.2_Silent_p.V277V|CAMK4_uc010jbv.2_Silent_p.V80V|CAMK4_uc003kpg.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	277	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TATTTCAGGTCAGAAAATTAA	0.418		NaN											0	0	0	0.003163	0	15	95				
TSSK1B	83942	broad.mit.edu	37	5	112769841	112769841	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:112769841G>A	uc003kqm.2	-	1	888	c.696C>T	c.(694-696)CGC>CGT	p.R232R	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	232	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R232H(1)		ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAAGTTGACGCGGTGCTCCT	0.587		NaN											0	0	0	0.00499	0	16	65				
KCNN2	3781	broad.mit.edu	37	5	113831654	113831654	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:113831654G>C	uc003kqo.2	+	8	1972	c.1515G>C	c.(1513-1515)AAG>AAC	p.K505N	KCNN2_uc003kqp.2_Missense_Mutation_p.K157N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	505						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACTTCGAGAAGAGGATTGTTA	0.428		NaN											0	0	0	0.004878	0	38	160				
SHROOM1	134549	broad.mit.edu	37	5	132160910	132160910	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:132160910G>A	uc003kxx.2	-	4	1728	c.923C>T	c.(922-924)TCA>TTA	p.S308L	SHROOM1_uc003kxy.1_Missense_Mutation_p.S308L	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTCGCCTGAAGCGCTCCG	0.617		NaN											0	0	0	0.001855	0	11	34				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905956	139905956	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905956C>G	uc003lfs.1	+	26	4992	c.4868C>G	c.(4867-4869)TCT>TGT	p.S1623C	ANKHD1_uc003lfr.2_Missense_Mutation_p.S1623C|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1103C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S362C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S261C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S58C|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1623						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCCTCTAAATACCCC	0.393		NaN											0	0	0	0.010818	0	33	104				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905979	139905979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:139905979C>G	uc003lfs.1	+	26	5015	c.4891C>G	c.(4891-4893)CAT>GAT	p.H1631D	ANKHD1_uc003lfr.2_Missense_Mutation_p.H1631D|ANKHD1_uc003lfu.1_Missense_Mutation_p.H1111D|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.H370D|ANKHD1_uc003lfw.2_Missense_Mutation_p.H269D|ANKHD1_uc010jfl.2_Missense_Mutation_p.H66D|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1631						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCTCCTTCATTCCCAAGA	0.418		NaN											0	0	0	0.003755	0	35	96				
PCDHA7	56141	broad.mit.edu	37	5	140214299	140214299	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140214299G>A	uc003lhq.2	+	1	331	c.331G>A	c.(331-333)GAA>AAA	p.E111K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.E111K	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	111	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATCGTGGAAAGGCCGCT	0.557		NaN											0	0	0	0.004878	0	37	351				
PCDHA9	9752	broad.mit.edu	37	5	140228411	140228411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140228411G>A	uc003lhu.2	+	1	1055	c.331G>A	c.(331-333)GAC>AAC	p.D111N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.D111N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	111	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGATCGTAGACAGGCCGCT	0.547		NaN											0	0	0	0.00333	0	12	205				
PCDHB7	56129	broad.mit.edu	37	5	140553716	140553716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140553716G>A	uc003lit.2	+	1	1474	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	434	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCACAACAT	0.537		NaN											0	0	0	0.005524	0	40	105				
PCDHB14	56122	broad.mit.edu	37	5	140605331	140605331	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140605331G>A	uc003ljb.2	+	1	2254	c.2254G>A	c.(2254-2256)GAG>AAG	p.E752K	PCDHB14_uc011dal.1_Missense_Mutation_p.E599K	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	752	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAATACGAGGTGTGTCT	0.572		NaN											0	0	0	0.01441	0	42	154				
PCDHGA7	56108	broad.mit.edu	37	5	140763130	140763130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140763130C>T	uc003lka.1	+	1	664	c.664C>T	c.(664-666)CGA>TGA	p.R222*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.R222*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCGCCCCGATCCAGCAC	0.607		NaN											0	0	0	0.001984	0	7	15				
PCDHGA9	56107	broad.mit.edu	37	5	140783493	140783493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140783493G>A	uc003lkh.1	+	1	974	c.974G>A	c.(973-975)GGG>GAG	p.G325E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.G325E	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	325	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATGGTGGGGGATTGAAA	0.378		NaN											0	0	0	0.01441	0	41	131				
PCDHGC5	56097	broad.mit.edu	37	5	140870089	140870089	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:140870089G>A	uc003lla.1	+	1	1282	c.1282G>A	c.(1282-1284)GAT>AAT	p.D428N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D428N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	428	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCCAGCGATGCTGGTTC	0.512		NaN											0	0	0	0.01441	0	76	244				
GLRA1	2741	broad.mit.edu	37	5	151231107	151231107	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:151231107C>G	uc003lut.2	-	7	1043	c.756G>C	c.(754-756)CTG>CTC	p.L252L	GLRA1_uc003lur.2_Silent_p.L252L|GLRA1_uc003lus.2_Silent_p.L169L	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	252	Helical; (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCTGAATCAGGTAGTAAC	0.468		NaN											0	0	0	0.008871	0	20	88				
MRPL22	29093	broad.mit.edu	37	5	154330479	154330479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:154330479G>C	uc003lvy.3	+	3	214	c.176G>C	c.(175-177)GGA>GCA	p.G59A	MRPL22_uc003lvz.3_Intron	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	59					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAACTGCCTGGAGAACCTCGG	0.373		NaN											0	0	0	0.00632	0	26	73				
C5orf40	408263	broad.mit.edu	37	5	156770349	156770349	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:156770349G>C	uc003lwu.2	-	2	384	c.196C>G	c.(196-198)CTT>GTT	p.L66V	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	66	Fibronectin type-III.					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGGGGCAAGATGTTCCAGC	0.547		NaN											0	0	0	0.00278	0	24	92				
C5orf54	63920	broad.mit.edu	37	5	159822236	159822236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:159822236C>T	uc003lye.1	-	2	726	c.262G>A	c.(262-264)GAG>AAG	p.E88K	C5orf54_uc003lyf.1_Missense_Mutation_p.E88K	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	88										pancreas(1)	1						aaagtatcctcatgagatgca	0		NaN											0	0	0	0.01441	0	47	133				
ODZ2	57451	broad.mit.edu	37	5	167553912	167553912	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:167553912G>A	uc010jjd.2	+	12	2363	c.2363G>A	c.(2362-2364)CGA>CAA	p.R788Q	ODZ2_uc003lzr.3_Missense_Mutation_p.R556Q|ODZ2_uc003lzt.3_Missense_Mutation_p.R152Q|ODZ2_uc010jje.2_Missense_Mutation_p.R59Q|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTGAATGCCGAGAGGGCTGG	0.532		NaN											0	0	0	0.009096	0	4	11				
RPL26L1	51121	broad.mit.edu	37	5	172386933	172386933	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:172386933C>T	uc003mcc.2	+	2	99	c.57C>T	c.(55-57)TTC>TTT	p.F19F	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACGTCACTTCAATGCCCCCT	0.567		NaN											0	0	0	0.01441	0	52	216				
ZNF354C	30832	broad.mit.edu	37	5	178506267	178506267	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr5:178506267G>T	uc003mju.2	+	5	949	c.834G>T	c.(832-834)GAG>GAT	p.E278D		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	278	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGAATGTGAGAAGGCATTTA	0.403		NaN											1	0	2.09667e-21	0.003755	2.17397e-21	38	96				
CDYL	9425	broad.mit.edu	37	6	4943860	4943860	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:4943860C>G	uc003mwi.2	+	7	1495	c.1364C>G	c.(1363-1365)TCT>TGT	p.S455C	CDYL_uc003mwj.2_Missense_Mutation_p.S401C|CDYL_uc003mwk.2_Missense_Mutation_p.S166C|CDYL_uc011dhx.1_Missense_Mutation_p.S269C|CDYL_uc011dhy.1_Missense_Mutation_p.S269C	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	455					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTAGGAGCATCTATATTGCCT	0.413		NaN											0	0	0	0.006999	0	35	136				
RREB1	6239	broad.mit.edu	37	6	7231404	7231404	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:7231404C>T	uc003mxc.2	+	10	3462	c.3072C>T	c.(3070-3072)GTC>GTT	p.V1024V	RREB1_uc003mxb.2_Silent_p.V1024V|RREB1_uc010jnx.2_Silent_p.V1024V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1024	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCCCTGGTCAGCAGCCCTC	0.706		NaN											0	0	0	0.00278	0	24	64				
ZFP57	346171	broad.mit.edu	37	6	29641179	29641179	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:29641179C>T	uc011dlw.1	-	4	860	c.709G>A	c.(709-711)GAC>AAC	p.D237N	ZFP57_uc003nnl.3_Missense_Mutation_p.D217N	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	153	C2H2-type 3.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TAGGTCTTGTCACAGAGCGTG	0.572		NaN											0	0	0	0.005443	0	28	95				
RNF39	80352	broad.mit.edu	37	6	30043478	30043478	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30043478G>A	uc003npe.2	-	1	151	c.89C>T	c.(88-90)GCG>GTG	p.A30V	RNF39_uc003npd.2_Missense_Mutation_p.A30V	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	30						cytoplasm	zinc ion binding				0						TCCGACTCCCGCATTAACTTT	0.607		NaN											0	0	0	0.008361	0	28	79				
TRIM15	89870	broad.mit.edu	37	6	30139765	30139765	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30139765C>G	uc010jrx.2	+	7	1516	c.1037C>G	c.(1036-1038)TCC>TGC	p.S346C		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	346	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding				0						GGCTTCTCCTCCGGGCGCCAC	0.706		NaN											0	0	0	0.004672	0	2	5				
MUC21	394263	broad.mit.edu	37	6	30954371	30954371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:30954371C>G	uc003nsh.2	+	2	670	c.419C>G	c.(418-420)TCC>TGC	p.S140C	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	140	28 X 15 AA approximate tandem repeats.|Ser-rich.|8.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AACTCTGACTCCAGCACAACC	0.607		NaN											0	0	0	0.01441	0	52	222				
BAT3	7917	broad.mit.edu	37	6	31609349	31609349	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31609349G>A	uc003nvg.3	-	17	2750	c.2436C>T	c.(2434-2436)ATC>ATT	p.I812I	BAT3_uc003nvf.3_Silent_p.I806I|BAT3_uc003nvh.3_Silent_p.I806I|BAT3_uc003nvi.3_Silent_p.I806I|BAT3_uc011dnw.1_Silent_p.I806I|BAT3_uc011dnx.1_Silent_p.I680I	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	812					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CTAGCCCCGTGATCAATGTGT	0.537		NaN											0	0	0	0.01441	0	62	112				
MSH5	4439	broad.mit.edu	37	6	31710892	31710892	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31710892G>A	uc003nwv.1	+	5	439	c.360G>A	c.(358-360)CAG>CAA	p.Q120Q	MSH5_uc003nwt.1_Silent_p.Q120Q|MSH5_uc003nwu.1_Silent_p.Q120Q|MSH5_uc003nww.1_Silent_p.Q120Q|MSH5_uc003nwx.1_Silent_p.Q120Q|MSH5_uc011dof.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	120					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CAGCCTCCCAGGAGCACAGAG	0.488		NaN						Direct_reversal_of_damage|MMR					0	0	0	0.01441	0	82	103				
C2	717	broad.mit.edu	37	6	31913003	31913003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:31913003G>A	uc003nyf.2	+	18	2392	c.2128G>A	c.(2128-2130)GAC>AAC	p.D710N	C2_uc011doo.1_Missense_Mutation_p.D464N|C2_uc011dop.1_Missense_Mutation_p.D496N|C2_uc010jtk.2_Missense_Mutation_p.D578N|C2_uc011doq.1_Missense_Mutation_p.D681N|C2_uc003nyg.2_Missense_Mutation_p.D487N|CFB_uc011dor.1_Intron|C2_uc003nyh.1_Silent_p.*344*|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	710	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGCTCTGCTGACAAAAACTC	0.592		NaN											0	0	0	0.010818	0	32	103				
ITPR3	3710	broad.mit.edu	37	6	33660624	33660624	+	Silent	SNP	G	G	A	rs149058562		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33660624G>A	uc011drk.1	+	55	7797	c.7578G>A	c.(7576-7578)GAG>GAA	p.E2526E	ITPR3_uc003oey.2_Silent_p.E613E	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2526	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGCGTAGTGAGAAGCAGAAGA	0.522		NaN											0	0	0	0.006999	0	41	64				
ITPR3	3710	broad.mit.edu	37	6	33661456	33661456	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:33661456G>C	uc011drk.1	+	56	7978	c.7759G>C	c.(7759-7761)GAG>CAG	p.E2587Q	ITPR3_uc003oey.2_Missense_Mutation_p.E674Q	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2587	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CACGGGCCCTGAGAGCTACGT	0.552		NaN											0	0	0	0.008871	0	18	25				
C6orf222	389384	broad.mit.edu	37	6	36298201	36298201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36298201C>G	uc003oly.2	-	2	445	c.267G>C	c.(265-267)CAG>CAC	p.Q89H		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	89										skin(2)|ovary(1)|breast(1)	4						GCGAAGGCCTCTGCTCGCTGG	0.617		NaN											0	0	0	0.004289	0	34	121				
PI16	221476	broad.mit.edu	37	6	36930731	36930731	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:36930731G>A	uc003ona.2	+	5	941	c.613G>A	c.(613-615)GAT>AAT	p.D205N	PI16_uc003omz.1_Missense_Mutation_p.D205N|PI16_uc003onb.2_Missense_Mutation_p.D205N|PI16_uc011dts.1_5'UTR	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	205	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						AAGCCCGGAAGATGCTCAGGA	0.542		NaN											0	0	0	0.003954	0	25	55				
MDGA1	266727	broad.mit.edu	37	6	37620068	37620068	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:37620068C>T	uc003onu.1	-	7	2210	c.1031G>A	c.(1030-1032)AGT>AAT	p.S344N	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	344	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						GATGTTCTCACTCTCTTTGAT	0.567		NaN											0	0	0	0.004007	0	15	37				
DNAH8	1769	broad.mit.edu	37	6	38834581	38834581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38834581C>G	uc003ooe.1	+	45	6571	c.5971C>G	c.(5971-5973)CTT>GTT	p.L1991V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CTGTGGTTTTCTTGAAAATGT	0.308		NaN											0	0	0	0.00308	0	7	62				
DNAH8	1769	broad.mit.edu	37	6	38881670	38881670	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38881670C>T	uc003ooe.1	+	65	9854	c.9254C>T	c.(9253-9255)TCT>TTT	p.S3085F	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTAAACTCTCTCAGGATCTT	0.368		NaN											0	0	0	0.005443	0	20	53				
DNAH8	1769	broad.mit.edu	37	6	38957823	38957823	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:38957823C>T	uc003ooe.1	+	86	13038	c.12438C>T	c.(12436-12438)TTC>TTT	p.F4146F		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AACCGTCATTCTGCTTTTATA	0.363		NaN											0	0	0	0.004289	0	37	149				
PTK7	5754	broad.mit.edu	37	6	43114421	43114421	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:43114421C>T	uc003oub.1	+	17	2904	c.2706C>T	c.(2704-2706)CTC>CTT	p.L902L	PTK7_uc003ouc.1_Silent_p.L846L|PTK7_uc003oud.1_Silent_p.L862L|PTK7_uc003oue.1_Silent_p.L772L|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.L910L|PTK7_uc010jyj.1_Silent_p.L228L	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	902	Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACAGCCCCTCAGCACCAAGC	0.488		NaN											0	0	0	0.003163	0	14	71				
SPATS1	221409	broad.mit.edu	37	6	44310891	44310891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:44310891C>G	uc003oxk.2	+	1	406	c.59C>G	c.(58-60)TCA>TGA	p.S20*	SPATS1_uc003oxg.2_Intron|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	20										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCCATCTCAAGCACGACC	0.512		NaN											0	0	0	0.003163	0	16	72				
PKHD1	5314	broad.mit.edu	37	6	51929769	51929769	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:51929769G>A	uc003pah.1	-	13	1236	c.960C>T	c.(958-960)CTC>CTT	p.L320L	PKHD1_uc003pai.2_Silent_p.L320L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	320	IPT/TIG 3.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GAGGGGTGGTGAGCCTCACAT	0.448		NaN											0	0	0	0.00632	0	27	112				
RIMS1	22999	broad.mit.edu	37	6	72957721	72957721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:72957721C>T	uc003pga.2	+	12	2209	c.2132C>T	c.(2131-2133)TCA>TTA	p.S711L	RIMS1_uc011dyb.1_Missense_Mutation_p.S337L|RIMS1_uc003pgc.2_Missense_Mutation_p.S337L|RIMS1_uc010kaq.2_Missense_Mutation_p.S185L|RIMS1_uc011dyc.1_Missense_Mutation_p.S185L|RIMS1_uc010kar.2_Missense_Mutation_p.S104L|RIMS1_uc011dyd.1_Missense_Mutation_p.S170L|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.S337L|RIMS1_uc010kas.1_Missense_Mutation_p.S170L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	711					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTTTAGGTTCAAGTTCCTTT	0.318		NaN											0	0	0	0.014323	0	23	93				
KCNQ5	56479	broad.mit.edu	37	6	73900420	73900420	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:73900420C>G	uc003pgk.2	+	12	2049	c.1702C>G	c.(1702-1704)CAA>GAA	p.Q568E	KCNQ5_uc011dyh.1_Missense_Mutation_p.Q587E|KCNQ5_uc011dyi.1_Missense_Mutation_p.Q578E|KCNQ5_uc010kat.2_Missense_Mutation_p.Q559E|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q458E|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q318E	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	568					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TAAAAGCCTTCAAACACGGTA	0.373		NaN											0	0	0	0.00632	0	23	82				
CD109	135228	broad.mit.edu	37	6	74533302	74533302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:74533302C>T	uc003php.2	+	33	4708	c.4283C>T	c.(4282-4284)TCA>TTA	p.S1428L	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.S1411L|CD109_uc010kba.2_Missense_Mutation_p.S1351L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	1428						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						CATCACTCTTCAGTCATTTTT	0.428		NaN											0	0	0	0.008361	0	31	123				
CNR1	1268	broad.mit.edu	37	6	88854856	88854856	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:88854856C>G	uc011dzq.1	-	2	3701	c.138G>C	c.(136-138)CAG>CAC	p.Q46H	CNR1_uc010kbz.2_Missense_Mutation_p.Q46H|CNR1_uc011dzr.1_Missense_Mutation_p.Q46H|CNR1_uc011dzs.1_Missense_Mutation_p.Q46H|CNR1_uc003pmq.3_Missense_Mutation_p.Q46H|CNR1_uc011dzt.1_Missense_Mutation_p.Q46H|CNR1_uc010kca.2_Intron	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	46	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGGAATTTCTGTGGGAAGT	0.498		NaN											0	0	0	0.003271	0	37	94				
CASP8AP2	9994	broad.mit.edu	37	6	90576217	90576217	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:90576217G>C	uc003pnr.2	+	8	3404	c.3208G>C	c.(3208-3210)GAG>CAG	p.E1070Q	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1070Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1070Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1070					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGAATTATTGAGTCAGCAAT	0.274		NaN											0	0	0	0.004672	0	2	5				
FRK	2444	broad.mit.edu	37	6	116264315	116264315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:116264315C>T	uc003pwi.1	-	7	1621	c.1174G>A	c.(1174-1176)GAA>AAA	p.E392K		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	392	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AGCTTTATTTCGTGTCTAGAT	0.378		NaN											0	0	0	0.012319	0	18	52				
ROS1	6098	broad.mit.edu	37	6	117718277	117718277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:117718277G>A	uc003pxp.1	-	7	779	c.580C>T	c.(580-582)CCT>TCT	p.P194S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	194	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCAGTTTCAGGAACTGGAAGA	0.388		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.010504	0	22	86				
SMPDL3A	10924	broad.mit.edu	37	6	123127407	123127407	+	Missense_Mutation	SNP	C	C	G	rs143627205		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:123127407C>G	uc003pzg.2	+	7	1470	c.949C>G	c.(949-951)CCT>GCT	p.P317A	SMPDL3A_uc003pzh.2_Missense_Mutation_p.P186A	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	317					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)		GTTTGTGGCTCCTGCTGTTAC	0.313		NaN											0	0	0	0.00499	0	12	42				
TRMT11	60487	broad.mit.edu	37	6	126320719	126320719	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:126320719G>A	uc003qam.2	+	7	760	c.639G>A	c.(637-639)GTG>GTA	p.V213V	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.V213V	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	213					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		ATGGAAAAGTGAAAGAAAATG	0.313		NaN											0	0	0	0.00333	0	26	81				
TCF21	6943	broad.mit.edu	37	6	134210742	134210742	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:134210742G>A	uc003qei.3	+	1	483	c.207G>A	c.(205-207)CTG>CTA	p.L69L	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.L69L	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	69					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGAGCCCCCTGAGCGGGGTCA	0.682		NaN											0	0	0	0.000602	0	5	63				
SYNE1	23345	broad.mit.edu	37	6	152461256	152461256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:152461256C>G	uc010kiw.2	-	140	25889	c.25287G>C	c.(25285-25287)TTG>TTC	p.L8429F	SYNE1_uc010kiv.2_Missense_Mutation_p.L2953F|SYNE1_uc003qos.3_Missense_Mutation_p.L2953F|SYNE1_uc003qot.3_Missense_Mutation_p.L8381F|SYNE1_uc003qou.3_Missense_Mutation_p.L8429F|SYNE1_uc003qop.3_Missense_Mutation_p.L614F|SYNE1_uc011eez.1_Missense_Mutation_p.L631F|SYNE1_uc003qoq.3_Missense_Mutation_p.L631F|SYNE1_uc003qor.3_Missense_Mutation_p.L1352F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8429	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCCTTGCTCAATGCCTGGG	0.502		NaN								HNSCC(10;0.0054)			0	0	0	0.003755	0	33	125				
TULP4	56995	broad.mit.edu	37	6	158834155	158834155	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:158834155G>A	uc003qrf.2	+	2	1668	c.311G>A	c.(310-312)GGA>GAA	p.G104E	TULP4_uc011efo.1_Missense_Mutation_p.G104E|TULP4_uc003qrg.2_Missense_Mutation_p.G104E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	104	WD 1.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATGCGGACGGAGGCATATTC	0.562		NaN											0	0	0	0.003163	0	14	33				
T	6862	broad.mit.edu	37	6	166571975	166571975	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:166571975G>C	uc003quu.1	-	9	1629	c.1136C>G	c.(1135-1137)TCC>TGC	p.S379C	T_uc003qut.1_Missense_Mutation_p.S380C|T_uc003quv.1_Missense_Mutation_p.S321C	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	379					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGCGCGGGGGAGCCCCGGAA	0.706		NaN							Chordoma_Familial_Clustering_of				0	0	0	0.00499	0	13	55				
MLLT4	4301	broad.mit.edu	37	6	168344641	168344641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr6:168344641G>C	uc003qwd.2	+	25	3378	c.3236G>C	c.(3235-3237)AGA>ACA	p.R1079T	MLLT4_uc003qwb.1_Missense_Mutation_p.R1064T|MLLT4_uc003qwc.1_Missense_Mutation_p.R1080T|MLLT4_uc003qwg.1_Missense_Mutation_p.R389T	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1080	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCATGACAAGAACAAGCTCT	0.488		NaN	T	MLL	AL								0	0	0	0.004656	0	27	66				
LFNG	3955	broad.mit.edu	37	7	2565989	2565989	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:2565989C>G	uc003smf.2	+	6	950	c.933C>G	c.(931-933)TTC>TTG	p.F311L	LFNG_uc003smg.2_Missense_Mutation_p.F311L	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	lunatic fringe isoform a	311	Lumenal (Potential).				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCGGCCTCTTCCACTCCCACC	0.657		NaN											0	0	0	0.010818	0	34	96				
KIAA0415	9907	broad.mit.edu	37	7	4830468	4830468	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:4830468G>C	uc003sne.2	+	16	2186	c.2103G>C	c.(2101-2103)CTG>CTC	p.L701L	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.L178L	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	701					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TCACCGTGCTGATGACCACGC	0.647		NaN											0	0	0	0.004672	0	2	12				
USP42	84132	broad.mit.edu	37	7	6180583	6180583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:6180583G>C	uc011jwo.1	+	7	886	c.763G>C	c.(763-765)GAT>CAT	p.D255H	USP42_uc011jwn.1_Missense_Mutation_p.D100H|USP42_uc010kth.1_Missense_Mutation_p.D188H|USP42_uc011jwp.1_Missense_Mutation_p.D255H|USP42_uc011jwq.1_Missense_Mutation_p.D62H|USP42_uc011jwr.1_Missense_Mutation_p.D100H	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	255					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGATACTTTTGATCCATATCT	0.264		NaN											0	0	0	0.004482	0	9	48				
COL28A1	340267	broad.mit.edu	37	7	7413118	7413118	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:7413118C>G	uc003src.1	-	32	2536	c.2419G>C	c.(2419-2421)GAA>CAA	p.E807Q	COL28A1_uc011jxe.1_Missense_Mutation_p.E490Q	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	807	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCACGCTTTCTGAGCTGTCG	0.463		NaN											0	0	0	0.006999	0	41	134				
FAM188B	84182	broad.mit.edu	37	7	30876370	30876370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:30876370C>T	uc003tbt.2	+	7	1306	c.1229C>T	c.(1228-1230)TCA>TTA	p.S410L	FAM188B_uc010kwe.2_Missense_Mutation_p.S381L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	410											0						ATTGACCTCTCAGTAGCAAAG	0.463		NaN											0	0	0	0.007291	0	29	128				
POLD2	5425	broad.mit.edu	37	7	44157622	44157622	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44157622C>T	uc010kxz.2	-	4	912	c.262G>A	c.(262-264)GAG>AAG	p.E88K	POLD2_uc003tke.3_Missense_Mutation_p.E88K|POLD2_uc010kya.2_Missense_Mutation_p.E88K|POLD2_uc003tkf.3_Missense_Mutation_p.E88K	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	88					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						CACTTCTCCTCAGGCTGCAGT	0.622		NaN											0	0	0	0.003954	0	25	93				
OGDH	4967	broad.mit.edu	37	7	44747299	44747299	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:44747299G>C	uc003tln.2	+	22	3024	c.2915G>C	c.(2914-2916)AGA>ACA	p.R972T	OGDH_uc011kbx.1_Missense_Mutation_p.R968T|OGDH_uc011kby.1_Missense_Mutation_p.R822T|OGDH_uc003tlp.2_Missense_Mutation_p.R983T|OGDH_uc011kbz.1_Missense_Mutation_p.R767T	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	972					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GTGAAGCCAAGACTTCGGACC	0.602		NaN											0	0	0	0.012319	0	23	90				
ZNF727	442319	broad.mit.edu	37	7	63538522	63538522	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:63538522G>C	uc011kdm.1	+	4	1274	c.1095G>C	c.(1093-1095)TTG>TTC	p.L365F		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	zinc finger protein 727	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATATGGAATTGAGACCTTACA	0.393		NaN											0	0	0	0.001984	0	7	18				
MAGI2	9863	broad.mit.edu	37	7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:77885556G>A	uc003ugx.2	-	10	2005	c.1751C>T	c.(1750-1752)CCG>CTG	p.P584L	MAGI2_uc003ugy.2_Missense_Mutation_p.P584L|MAGI2_uc010ldx.1_Missense_Mutation_p.P193L|MAGI2_uc010ldy.1_Missense_Mutation_p.P193L|MAGI2_uc011kgr.1_Missense_Mutation_p.P416L|MAGI2_uc011kgs.1_Missense_Mutation_p.P421L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	584						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527		NaN											0	0	0	0.004482	0	7	53				
PCLO	27445	broad.mit.edu	37	7	82585375	82585375	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:82585375C>T	uc003uhx.2	-	5	5183	c.4894G>A	c.(4894-4896)GAA>AAA	p.E1632K	PCLO_uc003uhv.2_Missense_Mutation_p.E1632K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1563					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCATCGTCTTCATCATGCCAT	0.428		NaN											0	0	0	0.00632	0	25	396				
PPP1R9A	55607	broad.mit.edu	37	7	94919406	94919406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:94919406C>G	uc003unp.2	+	16	3370	c.3088C>G	c.(3088-3090)CTT>GTT	p.L1030V	PPP1R9A_uc010lfj.2_Missense_Mutation_p.L1306V|PPP1R9A_uc011kif.1_Missense_Mutation_p.L1228V|PPP1R9A_uc003unq.2_Missense_Mutation_p.L1185V|PPP1R9A_uc011kig.1_Missense_Mutation_p.L1022V|PPP1R9A_uc003unr.2_Missense_Mutation_p.L319V	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1030	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTTAGGCTCTTGGAATGAC	0.413		NaN								HNSCC(28;0.073)			0	0	0	0.008291	0	10	41				
TAC1	6863	broad.mit.edu	37	7	97362036	97362036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:97362036G>T	uc003uop.3	+	2	358	c.112G>T	c.(112-114)GAC>TAC	p.D38Y	TAC1_uc003uoq.3_Missense_Mutation_p.D38Y|TAC1_uc003uor.3_Missense_Mutation_p.D38Y|TAC1_uc003uos.3_Missense_Mutation_p.D38Y	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	38					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GTACGACAGCGACCAGATCAA	0.557		NaN											1	0	1.1804e-14	0.003954	1.22119e-14	24	69				
ZNF655	79027	broad.mit.edu	37	7	99170257	99170257	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170257G>A	uc003urh.2	+	3	919	c.526G>A	c.(526-528)GAA>AAA	p.E176K	ZNF655_uc010lga.2_Missense_Mutation_p.E211K|ZNF655_uc010lgc.2_Missense_Mutation_p.E211K|ZNF655_uc003urj.2_Missense_Mutation_p.E176K|ZNF655_uc003urk.2_Missense_Mutation_p.E13K|ZNF655_uc010lgd.2_Missense_Mutation_p.E13K	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	176					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TGGTAAACATGAACACTTAAA	0.378		NaN											0	0	0	0.004482	0	9	57				
ZNF655	79027	broad.mit.edu	37	7	99170385	99170385	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170385G>A	uc003urh.2	+	3	1047	c.654G>A	c.(652-654)GGG>GGA	p.G218G	ZNF655_uc010lga.2_Silent_p.G253G|ZNF655_uc010lgc.2_Silent_p.G253G|ZNF655_uc003urj.2_Silent_p.G218G|ZNF655_uc003urk.2_Silent_p.G55G|ZNF655_uc010lgd.2_Silent_p.G55G	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	218	C2H2-type 1.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATGTATGTGGGAAAATTTTCC	0.388		NaN											0	0	0	0.003163	0	16	46				
ZNF655	79027	broad.mit.edu	37	7	99170442	99170442	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170442G>A	uc003urh.2	+	3	1104	c.711G>A	c.(709-711)GAG>GAA	p.E237E	ZNF655_uc010lga.2_Silent_p.E272E|ZNF655_uc010lgc.2_Silent_p.E272E|ZNF655_uc003urj.2_Silent_p.E237E|ZNF655_uc003urk.2_Silent_p.E74E|ZNF655_uc010lgd.2_Silent_p.E74E	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	237					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATACTAGAGAGAAGCCCTACA	0.378		NaN											0	0	0	0.004482	0	9	52				
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:99170930G>C	uc003urh.2	+	3	1592	c.1199G>C	c.(1198-1200)AGA>ACA	p.R400T	ZNF655_uc010lga.2_Missense_Mutation_p.R435T|ZNF655_uc010lgc.2_Missense_Mutation_p.R435T|ZNF655_uc003urj.2_Missense_Mutation_p.R400T|ZNF655_uc003urk.2_Missense_Mutation_p.R237T|ZNF655_uc010lgd.2_Missense_Mutation_p.R237T	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	400	C2H2-type 5.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353		NaN											0	0	0	0.014323	0	23	72				
MUC17	140453	broad.mit.edu	37	7	100695124	100695124	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:100695124C>T	uc003uxp.1	+	9	13037	c.12984C>T	c.(12982-12984)TTC>TTT	p.F4328F	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4328	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGACTACTTCGTAGTGGAGT	0.587		NaN											0	0	0	0.00623	0	41	116				
CUX1	1523	broad.mit.edu	37	7	101845024	101845024	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:101845024G>A	uc003uyx.3	+	18	2485	c.2447G>A	c.(2446-2448)CGC>CAC	p.R816H	CUX1_uc003uys.3_Missense_Mutation_p.R827H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	816					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAGGTGGGCCGCAGCGGTGCC	0.672		NaN											0	0	0	0.008291	0	11	18				
PMPCB	9512	broad.mit.edu	37	7	102940661	102940661	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:102940661G>C	uc003vbl.2	+	4	398	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	PMPCB_uc010liu.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbk.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbm.2_Missense_Mutation_p.E31Q|PMPCB_uc010liv.2_Missense_Mutation_p.E28Q|PMPCB_uc010liw.2_Missense_Mutation_p.E31Q|PMPCB_uc011kll.1_Missense_Mutation_p.E17Q|PMPCB_uc011klm.1_5'UTR	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	122					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						TCTGGAACTTGAGATTGAAAA	0.388		NaN											0	0	0	0.010818	0	31	157				
BCAP29	55973	broad.mit.edu	37	7	107253828	107253828	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:107253828G>C	uc003vej.2	+	7	980	c.641G>C	c.(640-642)AGA>ACA	p.R214T	BCAP29_uc011kly.1_Missense_Mutation_p.R120T|BCAP29_uc011klz.1_Missense_Mutation_p.R214T|BCAP29_uc011kma.1_Missense_Mutation_p.R214T	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	214	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						CAGTCAGAGAGACTTTCGAAA	0.313		NaN											0	0	0	0.013537	0	11	41				
IFRD1	3475	broad.mit.edu	37	7	112096062	112096062	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:112096062G>A	uc003vgh.2	+	4	648	c.205G>A	c.(205-207)GAA>AAA	p.E69K	IFRD1_uc011kmn.1_Missense_Mutation_p.E19K|IFRD1_uc003vgi.2_Missense_Mutation_p.E69K|IFRD1_uc003vgj.2_Missense_Mutation_p.E69K|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.E19K	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	69					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						CTTAGGACCAGAAGTCCTTGA	0.368		NaN											0	0	0	0.010729	0	9	53				
WASL	8976	broad.mit.edu	37	7	123332847	123332847	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:123332847G>C	uc003vkz.2	-	9	1229	c.901C>G	c.(901-903)CCT>GCT	p.P301A		NM_003941	NP_003932	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome gene-like protein	301	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0						gcaggaggaggaggaggacct	0.428		NaN											0	0	0	0.010818	0	32	89				
SND1	27044	broad.mit.edu	37	7	127714730	127714730	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:127714730G>A	uc003vmi.2	+	17	2182	c.1956G>A	c.(1954-1956)CAG>CAA	p.Q652Q	SND1_uc010lle.2_Silent_p.Q305Q	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	652	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CCGCAAAGCAGAAGAAAGAGA	0.602		NaN											0	0	0	0.009096	0	4	23				
CHCHD3	54927	broad.mit.edu	37	7	132754904	132754904	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:132754904G>C	uc003vre.2	-	2	303	c.167C>G	c.(166-168)TCA>TGA	p.S56*	CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Nonsense_Mutation_p.S56*|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Nonsense_Mutation_p.S56*	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain	56					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold				0						AGCAATACCTGAGGCACCATA	0.378		NaN											0	0	0	0.010729	0	11	49				
PTN	5764	broad.mit.edu	37	7	136936106	136936106	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:136936106C>T	uc003vtq.2	-	4	685	c.322G>A	c.(322-324)GAA>AAA	p.E108K	PTN_uc010lmx.2_Missense_Mutation_p.E108K|PTN_uc003vtr.1_Missense_Mutation_p.E108K	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	108					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						AGGTCACATTCTCCCCAGGCC	0.507		NaN											0	0	0	0.01441	0	57	211				
PAXIP1	22976	broad.mit.edu	37	7	154738261	154738261	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr7:154738261C>T	uc003wlp.2	-	19	3137	c.3094G>A	c.(3094-3096)GAC>AAC	p.D1032N	LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.D998N|PAXIP1_uc011kvs.1_Missense_Mutation_p.D996N	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	1032	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATGAAGGTCATTTTCACAG	0.423		NaN											0	0	0	0.001168	0	6	40				
RP1L1	94137	broad.mit.edu	37	8	10466192	10466192	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:10466192G>C	uc003wtc.2	-	4	5645	c.5416C>G	c.(5416-5418)CAA>GAA	p.Q1806E		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1806					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAGCCTTGACCCCCAGTT	0.587		NaN											0	0	0	0.01441	0	80	308				
BIN3	55909	broad.mit.edu	37	8	22487503	22487503	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:22487503C>T	uc003xcl.2	-	6	409	c.312G>A	c.(310-312)CAG>CAA	p.Q104Q	BIN3_uc003xck.2_Silent_p.Q56Q|BIN3_uc010ltw.2_Silent_p.Q50Q	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	104	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TCACAGTCTTCTGGATCTGGT	0.537		NaN											0	0	0	0.000602	0	4	19				
ZNF395	55893	broad.mit.edu	37	8	28206244	28206244	+	Missense_Mutation	SNP	G	G	C	rs12545851		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28206244G>C	uc003xgq.2	-	10	1622	c.1534C>G	c.(1534-1536)CTG>GTG	p.L512V	ZNF395_uc003xgt.2_Missense_Mutation_p.L512V|ZNF395_uc003xgr.2_Missense_Mutation_p.L512V|ZNF395_uc003xgs.2_Missense_Mutation_p.L512V	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	512					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCTCAGTCCAGAAAGCGCTGG	0.622		NaN											0	0	0	0.008871	0	14	60				
EXTL3	2137	broad.mit.edu	37	8	28574875	28574875	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:28574875C>G	uc003xgz.1	+	3	1892	c.1299C>G	c.(1297-1299)ATC>ATG	p.I433M		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	433	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCGCCCTCATCATTACCCCCG	0.622		NaN											0	0	0	0.010818	0	32	84				
IDO2	169355	broad.mit.edu	37	8	39806667	39806667	+	Splice_Site	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:39806667G>C	uc010lwy.1	+	2	265	c.23_splice	c.e2-1	p.D8_splice	IDO2_uc003xno.1_Splice_Site	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1						tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						TTTCCATGCAGATACTTCAAA	0.428		NaN											0	0	0	0.000602	0	4	16				
CHRNB3	1142	broad.mit.edu	37	8	42585842	42585842	+	Missense_Mutation	SNP	G	G	A	rs75170626		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:42585842G>A	uc003xpi.1	+	4	483	c.355G>A	c.(355-357)GAA>AAA	p.E119K		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	119	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTTCTCTTTGAAAAGTAAGT	0.284		NaN											0	0	0	0.003163	0	14	58				
POTEA	340441	broad.mit.edu	37	8	43211963	43211963	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:43211963C>G	uc003xpz.1	+	12	1465	c.1422C>G	c.(1420-1422)CTC>CTG	p.L474L	POTEA_uc003xqa.1_Silent_p.L428L	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	474	Potential.									ovary(1)	1						TACTAGAACTCAAAAATAGCC	0.353		NaN											0	0	0	0.013537	0	13	63				
KIAA0146	23514	broad.mit.edu	37	8	48641538	48641538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641538C>T	uc003xqd.2	+	18	2488	c.2479C>T	c.(2479-2481)CCT>TCT	p.P827S	KIAA0146_uc011ldc.1_Missense_Mutation_p.P757S|KIAA0146_uc011ldd.1_Missense_Mutation_p.P767S|KIAA0146_uc003xqe.2_Missense_Mutation_p.P302S|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.P332S|KIAA0146_uc011ldg.1_Missense_Mutation_p.P317S|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	827											0		Lung NSC(58;0.175)				GGTCACATCTCCTGTTCTCAA	0.592		NaN											0	0	0	0.003954	0	24	91				
KIAA0146	23514	broad.mit.edu	37	8	48641544	48641544	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:48641544C>T	uc003xqd.2	+	18	2494	c.2485C>T	c.(2485-2487)CTC>TTC	p.L829F	KIAA0146_uc011ldc.1_Missense_Mutation_p.L759F|KIAA0146_uc011ldd.1_Missense_Mutation_p.L769F|KIAA0146_uc003xqe.2_Missense_Mutation_p.L304F|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.L334F|KIAA0146_uc011ldg.1_Missense_Mutation_p.L319F|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	829											0		Lung NSC(58;0.175)				ATCTCCTGTTCTCAAGAGGCA	0.592		NaN											0	0	0	0.00333	0	24	90				
ARFGEF1	10565	broad.mit.edu	37	8	68163633	68163633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:68163633C>G	uc003xxo.1	-	19	3141	c.2751G>C	c.(2749-2751)CAG>CAC	p.Q917H	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q371H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	917					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTGGCCATCTGCTCCATTT	0.398		NaN											0	0	0	0.004482	0	7	50				
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:70650368C>G	uc003xyl.2	-	5	2037	c.1330G>C	c.(1330-1332)GAG>CAG	p.E444Q	SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.E444Q|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	444	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423		NaN											0	0	0	0.010729	0	11	82				
GDAP1	54332	broad.mit.edu	37	8	75262801	75262801	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:75262801C>T	uc003yah.2	+	1	184	c.105C>T	c.(103-105)TTC>TTT	p.F35F	GDAP1_uc011lfj.1_5'UTR|GDAP1_uc003yai.2_Intron	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	35	GST N-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGCATTCGTTCAGCTCTCAAA	0.627		NaN											0	0	0	0.006122	0	14	58				
KIAA1429	25962	broad.mit.edu	37	8	95541352	95541352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:95541352C>T	uc003ygo.1	-	7	839	c.826G>A	c.(826-828)GAG>AAG	p.E276K	KIAA1429_uc003ygp.2_Missense_Mutation_p.E276K|KIAA1429_uc010maz.1_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	276	Glu-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tcttcctcctcAGGAATACTG	0.194		NaN											0	0	0	0.008291	0	11	21				
KCNS2	3788	broad.mit.edu	37	8	99440459	99440459	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440459C>T	uc003yin.2	+	2	602	c.252C>T	c.(250-252)TTC>TTT	p.F84F		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	84	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGCTGCATTTCTATCACACCG	0.557		NaN											0	0	0	0.013726	0	34	138				
KCNS2	3788	broad.mit.edu	37	8	99440510	99440510	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:99440510C>A	uc003yin.2	+	2	653	c.303C>A	c.(301-303)TTC>TTA	p.F101L		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	101	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTTCTCCTTCAGCCAGGAGA	0.537		NaN											1	0	1.62957e-23	0.00874	1.69344e-23	38	122				
RIMS2	9699	broad.mit.edu	37	8	104987673	104987673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:104987673C>G	uc003yls.2	+	14	2441	c.2200C>G	c.(2200-2202)CAT>GAT	p.H734D	RIMS2_uc003ylp.2_Missense_Mutation_p.H956D|RIMS2_uc003ylw.2_Missense_Mutation_p.H748D|RIMS2_uc003ylq.2_Missense_Mutation_p.H748D|RIMS2_uc003ylr.2_Missense_Mutation_p.H795D|RIMS2_uc003ylt.2_Missense_Mutation_p.H341D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1018					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTCTCCTCATCGAGTAGA	0.413		NaN								HNSCC(12;0.0054)			0	0	0	0.004007	0	14	64				
UTP23	84294	broad.mit.edu	37	8	117782565	117782565	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:117782565T>C	uc003yoc.2	+	2	424	c.323T>C	c.(322-324)GTT>GCT	p.V108A		NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component,	108					rRNA processing	nucleolus					0						CTTTCCATGGTTGAAGAGGGA	0.373		NaN											0	0	0	0.007291	0	26	154				
FER1L6	654463	broad.mit.edu	37	8	125052230	125052230	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:125052230C>T	uc003yqw.2	+	20	2778	c.2572C>T	c.(2572-2574)CAC>TAC	p.H858Y	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	858	Cytoplasmic (Potential).|C2 3.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTCCTTTCTCACTGCCAGAC	0.522		NaN											0	0	0	0.004656	0	24	127				
FAM83H	286077	broad.mit.edu	37	8	144808291	144808291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr8:144808291C>T	uc003yzk.2	-	5	3409	c.3340G>A	c.(3340-3342)GAG>AAG	p.E1114K	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1114					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGCGCTCCTCCGCGCTGGCT	0.652		NaN											0	0	0	0.001168	0	3	14				
BNC2	54796	broad.mit.edu	37	9	16435866	16435866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:16435866C>A	uc003zml.2	-	6	2466	c.2326G>T	c.(2326-2328)GAA>TAA	p.E776*	BNC2_uc011lmw.1_Nonsense_Mutation_p.E681*|BNC2_uc003zmm.2_Nonsense_Mutation_p.E734*|BNC2_uc003zmq.1_Nonsense_Mutation_p.E790*|BNC2_uc003zmr.1_Nonsense_Mutation_p.E813*|BNC2_uc003zmp.1_Nonsense_Mutation_p.E804*|BNC2_uc010mij.1_Nonsense_Mutation_p.E698*|BNC2_uc011lmv.1_Nonsense_Mutation_p.E602*|BNC2_uc003zmo.1_Nonsense_Mutation_p.E698*|BNC2_uc003zmj.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmn.1_Nonsense_Mutation_p.E541*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTAAATTCTTCCTTCACCTTG	0.498		NaN											1	0	3.62473e-10	0.012319	3.71685e-10	22	57				
TPM2	7169	broad.mit.edu	37	9	35689748	35689748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35689748C>T	uc003zxq.2	-	1	306	c.67G>A	c.(67-69)GAG>AAG	p.E23K	TPM2_uc003zxr.2_Missense_Mutation_p.E23K|TPM2_uc003zxs.2_Missense_Mutation_p.E23K|TPM2_uc010mkz.2_Missense_Mutation_p.E23K|TPM2_uc011lpa.1_Missense_Mutation_p.E23K	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	23	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCGGCGCGGTCG	0.677		NaN											0	0	0	0.01441	0	55	193				
CREB3	10488	broad.mit.edu	37	9	35736618	35736618	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:35736618C>G	uc003zxv.2	+	9	1464	c.1011C>G	c.(1009-1011)CTC>CTG	p.L337L	CREB3_uc010mla.2_Silent_p.L256L	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	361	Lumenal (Potential).|Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAGAGCCTCTCTGCCGAGGTC	0.587		NaN									OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	54	267				
AGTPBP1	23287	broad.mit.edu	37	9	88190360	88190360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:88190360C>T	uc011ltd.1	-	24	3406	c.3373G>A	c.(3373-3375)GAG>AAG	p.E1125K	AGTPBP1_uc004aod.3_Missense_Mutation_p.E751K|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.E1085K|AGTPBP1_uc011lte.1_Missense_Mutation_p.E1137K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1125					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GCTCCCATCTCTTCCAGTTCT	0.363		NaN											0	0	0	0.013726	0	30	84				
PTPDC1	138639	broad.mit.edu	37	9	96847533	96847533	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:96847533G>C	uc004auf.1	+	3	423	c.83G>C	c.(82-84)GGA>GCA	p.G28A	PTPDC1_uc004aug.1_Missense_Mutation_p.G28A|PTPDC1_uc004auh.1_Missense_Mutation_p.R80T|PTPDC1_uc010mrj.1_Missense_Mutation_p.G82A|PTPDC1_uc010mri.1_Missense_Mutation_p.R80T	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	28							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TATGTTCTAGGAAATTTAGAA	0.408		NaN											0	0	0	0.006122	0	16	64				
PTCH1	5727	broad.mit.edu	37	9	98232132	98232132	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98232132C>G	uc004avk.3	-	13	1998	c.1810G>C	c.(1810-1812)GAG>CAG	p.E604Q	PTCH1_uc010mro.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E453Q|PTCH1_uc004avl.3_Missense_Mutation_p.E453Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E538Q|PTCH1_uc004avm.3_Missense_Mutation_p.E603Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E272Q	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	604	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCCTGTCCTCGCGTCGATAT	0.438		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.011902	0	46	158				
C9orf102	375748	broad.mit.edu	37	9	98691087	98691087	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:98691087C>G	uc004avt.3	+	11	2113	c.1725C>G	c.(1723-1725)CTC>CTG	p.L575L	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.L277L|C9orf102_uc010mry.1_Silent_p.L277L|C9orf102_uc010mrz.2_Silent_p.L386L|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	575	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				AGGAAAGACTCAAGATTGTAA	0.368		NaN											0	0	0	0.014323	0	22	102				
COL15A1	1306	broad.mit.edu	37	9	101825366	101825366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:101825366C>G	uc004azb.1	+	39	3832	c.3626C>G	c.(3625-3627)TCA>TGA	p.S1209*		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1209	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AACCCTATTTCAAGTGCCAAT	0.269		NaN											0	0	0	0.008871	0	15	53				
ZNF462	58499	broad.mit.edu	37	9	109687655	109687655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:109687655C>T	uc004bcz.2	+	3	1751	c.1462C>T	c.(1462-1464)CAC>TAC	p.H488Y	ZNF462_uc010mto.2_Missense_Mutation_p.H336Y|ZNF462_uc004bda.2_Missense_Mutation_p.H336Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	488	C2H2-type 5.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ACTTGGGGCTCACAAACAGTG	0.448		NaN											0	0	0	0.008871	0	19	76				
CTNNAL1	8727	broad.mit.edu	37	9	111741738	111741738	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:111741738C>T	uc004bdo.1	-	7	966	c.924G>A	c.(922-924)GAG>GAA	p.E308E	CTNNAL1_uc010mts.1_Silent_p.E44E|CTNNAL1_uc010mtt.1_Silent_p.E308E|CTNNAL1_uc004bdp.1_Silent_p.E308E	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	308					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		AATAAAGATTCTCCCGAAGAG	0.418		NaN											0	0	0	0.004482	0	9	30				
SVEP1	79987	broad.mit.edu	37	9	113231341	113231341	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113231341G>C	uc010mtz.2	-	17	3376	c.3039C>G	c.(3037-3039)TTC>TTG	p.F1013L	SVEP1_uc010mua.1_Missense_Mutation_p.F1013L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1013					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTTCACAGGTGAAATGTTCCA	0.438		NaN											0	0	0	0.006122	0	17	79				
SVEP1	79987	broad.mit.edu	37	9	113312147	113312147	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:113312147G>A	uc010mtz.2	-	2	1106	c.769C>T	c.(769-771)CGC>TGC	p.R257C	SVEP1_uc010mua.1_Missense_Mutation_p.R257C|SVEP1_uc004beu.2_Missense_Mutation_p.R257C|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	257	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AATGCCCGGCGAGCTAAAGCC	0.478		NaN											0	0	0	0.001168	0	6	21				
BSPRY	54836	broad.mit.edu	37	9	116131969	116131969	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:116131969G>A	uc004bhg.3	+	6	804	c.756G>A	c.(754-756)CTG>CTA	p.L252L	BSPRY_uc010muw.2_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	252	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)	1						GAAAGACCCTGACCTTCAGCA	0.567		NaN											0	0	0	0.009535	0	30	93				
SCAI	286205	broad.mit.edu	37	9	127764247	127764247	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:127764247C>T	uc004bpe.2	-	12	1222	c.1141G>A	c.(1141-1143)GAA>AAA	p.E381K	SCAI_uc004bpd.2_Missense_Mutation_p.E404K|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	381					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						ATTGTACCTTCACTATCAGAA	0.473		NaN											0	0	0	0.01441	0	46	158				
GAPVD1	26130	broad.mit.edu	37	9	128111713	128111713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:128111713G>A	uc010mwx.2	+	21	3594	c.3268G>A	c.(3268-3270)GAA>AAA	p.E1090K	GAPVD1_uc004bpp.2_Missense_Mutation_p.E1099K|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1072K|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1051K|GAPVD1_uc004bps.2_Missense_Mutation_p.E1045K|GAPVD1_uc004bpt.2_Missense_Mutation_p.E105K	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1090					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TCCCCGTGACGAAGCACTGCA	0.478		NaN											0	0	0	0.005524	0	38	118				
ST6GALNAC6	30815	broad.mit.edu	37	9	130652994	130652994	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130652994T>C	uc004bso.1	-	5	745	c.626A>G	c.(625-627)AAC>AGC	p.N209S	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.N209S|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.N175S|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	209	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						TGCTTCCATGTTGGGGAACAC	0.642		NaN											0	0	0	0.007413	0	15	76				
NAIF1	203245	broad.mit.edu	37	9	130829327	130829327	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130829327C>T	uc004bta.2	-	1	273	c.54G>A	c.(52-54)GAG>GAA	p.E18E	NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	18	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus					0						CCACGATGATCTCCACCTCCC	0.577		NaN											0	0	0	0.01441	0	68	240				
LCN2	3934	broad.mit.edu	37	9	130914288	130914288	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:130914288C>G	uc004bto.1	+	4	532	c.459C>G	c.(457-459)TTC>TTG	p.F153L	LCN2_uc011map.1_Missense_Mutation_p.F153L	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	153					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GGGAGTACTTCAAGATCACCC	0.547		NaN											0	0	0	0.006999	0	36	155				
SPTAN1	6709	broad.mit.edu	37	9	131395126	131395126	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131395126G>A	uc004bvl.3	+	55	7298	c.7185G>A	c.(7183-7185)ATG>ATA	p.M2395I	SPTAN1_uc004bvm.3_Missense_Mutation_p.M2400I|SPTAN1_uc004bvn.3_Missense_Mutation_p.M2375I|SPTAN1_uc004bvo.3_Missense_Mutation_p.M162I|SPTAN1_uc004bvp.3_Missense_Mutation_p.M138I	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2395	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGCTTTCATGATCAGCCGCG	0.602		NaN											0	0	0	0.003271	0	32	178				
ZER1	10444	broad.mit.edu	37	9	131517773	131517773	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131517773G>A	uc004bwa.1	-	2	505	c.72C>T	c.(70-72)ACC>ACT	p.T24T		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	24					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGTAGCCCAGGGTGCCATCCA	0.622		NaN											0	0	0	0.00632	0	28	105				
DOLK	22845	broad.mit.edu	37	9	131709436	131709436	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131709436G>C	uc004bwr.2	-	1	577	c.147C>G	c.(145-147)CTC>CTG	p.L49L	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	49	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CCTGCACTGCGAGGGCCACGG	0.602		NaN											0	0	0	0.010504	0	19	68				
NUP188	23511	broad.mit.edu	37	9	131745618	131745618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:131745618G>A	uc004bws.1	+	18	1865	c.1843G>A	c.(1843-1845)GTC>ATC	p.V615I	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	615					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TGCTTCTTGTGTCAACTGCTT	0.433		NaN											0	0	0	0.007291	0	26	129				
ASS1	445	broad.mit.edu	37	9	133327632	133327632	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133327632C>T	uc004bzm.2	+	3	373	c.17C>T	c.(16-18)TCC>TTC	p.S6F	ASS1_uc004bzn.2_Missense_Mutation_p.S6F|ASS1_uc010mza.2_Missense_Mutation_p.S82F|ASS1_uc004bzo.2_Missense_Mutation_p.S6F|ASS1_uc010mzb.2_Missense_Mutation_p.S44F|ASS1_uc004bzp.2_Missense_Mutation_p.S6F|ASS1_uc010mzc.2_Missense_Mutation_p.S6F	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	6					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGCAAAGGCTCCGTGGTTCTG	0.627		NaN											0	0	0	0.001855	0	5	23				
LAMC3	10319	broad.mit.edu	37	9	133907468	133907468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:133907468G>A	uc004caa.1	+	3	813	c.715G>A	c.(715-717)GAC>AAC	p.D239N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	239	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCTCTCTAGACCGGCTCAA	0.567		NaN											0	0	0	0.004878	0	36	207				
C9orf96	169436	broad.mit.edu	37	9	136266896	136266896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:136266896C>T	uc004cdk.2	+	13	1289	c.1228C>T	c.(1228-1230)CCC>TCC	p.P410S	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	410							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCCAAGGCTCCCTGCAACCA	0.622		NaN											0	0	0	0.001855	0	14	37				
MRPS2	51116	broad.mit.edu	37	9	138395832	138395832	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138395832C>G	uc004cfv.3	+	4	818	c.744C>G	c.(742-744)CTC>CTG	p.L248L	MRPS2_uc004cfw.3_Silent_p.L158L|MRPS2_uc004cfx.3_Silent_p.L163L|MRPS2_uc010nat.2_Silent_p.L229L|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	248					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTGTGCACCTCTACTGCAGGC	0.632		NaN											0	0	0	0.012213	0	30	113				
KCNT1	57582	broad.mit.edu	37	9	138669288	138669288	+	Silent	SNP	C	C	T	rs149452823		TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:138669288C>T	uc011mdq.1	+	21	2528	c.2454C>T	c.(2452-2454)ATC>ATT	p.I818I	KCNT1_uc011mdr.1_Silent_p.I645I|KCNT1_uc010nbf.2_Silent_p.I773I|KCNT1_uc004cgo.1_Silent_p.I567I	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	818						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACAACTTCATCGTGCCACTGC	0.602		NaN											0	0	0	0.007413	0	17	87				
TRAF2	7186	broad.mit.edu	37	9	139802612	139802612	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139802612G>C	uc010nbu.2	+	6	630	c.457G>C	c.(457-459)GAG>CAG	p.E153Q	TRAF2_uc010nbv.1_Missense_Mutation_p.E205Q|TRAF2_uc004cjv.2_Missense_Mutation_p.E153Q|TRAF2_uc011mek.1_Missense_Mutation_p.E142Q|TRAF2_uc010nbw.2_Missense_Mutation_p.E153Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	153	TRAF-type 1.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCGCCACCTGGAGCACGAGTG	0.662		NaN											0	0	0	0.013537	0	13	35				
NPDC1	56654	broad.mit.edu	37	9	139937474	139937474	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr9:139937474C>G	uc004ckt.2	-	2	399	c.164G>C	c.(163-165)AGG>ACG	p.R55T	NPDC1_uc004ckr.2_Missense_Mutation_p.R55T|NPDC1_uc004cks.2_Missense_Mutation_p.R133T|NPDC1_uc004cku.2_Missense_Mutation_p.R55T	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	55						integral to membrane					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAGGACACCTTGCCCGCCT	0.687		NaN											0	0	0	0.00245	0	14	30				
ARSE	415	broad.mit.edu	37	X	2876407	2876407	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:2876407G>A	uc004crc.3	-	3	343	c.93C>T	c.(91-93)AGC>AGT	p.S31S	ARSE_uc011mhi.1_Intron|ARSE_uc011mhh.1_Silent_p.S56S	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	31					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGAAATGTCGCTGGAAGCTG	0.552		NaN											0	0	0	0.012319	0	20	58				
PHKA2	5256	broad.mit.edu	37	X	18926150	18926150	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:18926150G>C	uc004cyv.3	-	22	2815	c.2385C>G	c.(2383-2385)CTC>CTG	p.L795L	PHKA2_uc004cyu.3_Silent_p.L93L|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	795					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					GCTGTCCAGAGAGATTTGTGT	0.517		NaN											0	0	0	0.01441	0	67	321				
DMD	1756	broad.mit.edu	37	X	32429880	32429880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:32429880G>A	uc004dda.1	-	30	4466	c.4222C>T	c.(4222-4224)CAG>TAG	p.Q1408*	DMD_uc004dcw.2_Nonsense_Mutation_p.Q64*|DMD_uc004dcx.2_Nonsense_Mutation_p.Q67*|DMD_uc004dcz.2_Nonsense_Mutation_p.Q1285*|DMD_uc004dcy.1_Nonsense_Mutation_p.Q1404*|DMD_uc004ddb.1_Nonsense_Mutation_p.Q1400*|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1408					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGGCTTCCTGAGGCATTTGA	0.398		NaN											0	0	0	0.010818	0	29	98				
BCOR	54880	broad.mit.edu	37	X	39933287	39933287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:39933287C>T	uc004den.3	-	4	1604	c.1312G>A	c.(1312-1314)GAT>AAT	p.D438N	BCOR_uc004dep.3_Missense_Mutation_p.D438N|BCOR_uc004deo.3_Missense_Mutation_p.D438N|BCOR_uc004dem.3_Missense_Mutation_p.D438N|BCOR_uc004deq.3_Missense_Mutation_p.D438N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	438					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AGTGGCTTATCTGTGACGTCT	0.532		NaN											0	0	0	0.008871	0	18	67				
MED14	9282	broad.mit.edu	37	X	40568682	40568682	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:40568682C>G	uc004dex.3	-	10	1343	c.1203G>C	c.(1201-1203)CTG>CTC	p.L401L	MED14_uc010nhe.1_Silent_p.L285L	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	401	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						CACTGTCAATCAGGAGTTTTT	0.353		NaN											0	0	0	0.00245	0	13	73				
USP9X	8239	broad.mit.edu	37	X	41077663	41077663	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:41077663A>T	uc004dfb.2	+	37	6881	c.6248A>T	c.(6247-6249)AAT>ATT	p.N2083I	USP9X_uc004dfc.2_Missense_Mutation_p.N2083I	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2083					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CACAGCAAGAATGTACGTTTT	0.373		NaN											0	0	0	0.01441	0	59	196				
TBC1D25	4943	broad.mit.edu	37	X	48418785	48418785	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:48418785G>A	uc004dka.1	+	6	1600	c.1489G>A	c.(1489-1491)GGT>AGT	p.G497S	TBC1D25_uc011mly.1_Missense_Mutation_p.G439S|TBC1D25_uc004dkb.1_Missense_Mutation_p.G243S|TBC1D25_uc011mlz.1_Missense_Mutation_p.G243S|TBC1D25_uc011mma.1_Missense_Mutation_p.G243S|TBC1D25_uc004dkc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmb.1_Missense_Mutation_p.G501S|TBC1D25_uc011mmc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmd.1_Missense_Mutation_p.G243S	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	497	Poly-Gly.					intracellular	Rab GTPase activator activity			ovary(1)	1						GGGGCCTGGTGGTGGGGGGCG	0.642		NaN											0	0	0	0.008871	0	16	61				
HUWE1	10075	broad.mit.edu	37	X	53587226	53587226	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:53587226C>T	uc004dsp.2	-	56	8061	c.7659G>A	c.(7657-7659)CTG>CTA	p.L2553L	HUWE1_uc004dsn.2_Silent_p.L1377L|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2553					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TATTGGCCGTCAGCTGCCTTA	0.562		NaN											0	0	0	0.013537	0	8	27				
ITIH5L	347365	broad.mit.edu	37	X	54781511	54781511	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54781511C>T	uc004dtj.2	-	9	3171	c.3141G>A	c.(3139-3141)GAG>GAA	p.E1047E		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1047					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CTCCCAGGATCTCCTCAGAAT	0.488		NaN											0	0	0	0.005524	0	38	119				
TRO	7216	broad.mit.edu	37	X	54956580	54956580	+	Silent	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:54956580T>C	uc004dtq.2	+	12	3530	c.3423T>C	c.(3421-3423)GGT>GGC	p.G1141G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G672G|TRO_uc004dtw.2_Silent_p.G744G|TRO_uc004dtx.2_Silent_p.G524G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1141	34.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCTTTGGTGGTGCTCATGGCA	0.567		NaN											0	0	0	0.008871	0	17	68				
DLG3	1741	broad.mit.edu	37	X	69719849	69719849	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:69719849G>A	uc004dyi.1	+	16	2423	c.2095G>A	c.(2095-2097)GAT>AAT	p.D699N	DLG3_uc004dyj.1_Missense_Mutation_p.D394N|DLG3_uc011mpn.1_Missense_Mutation_p.D247N	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	699	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCAATTTAATGATAACCTCTA	0.493		NaN											0	0	0	0.004482	0	9	38				
HDX	139324	broad.mit.edu	37	X	83723964	83723964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:83723964C>T	uc004eek.1	-	3	876	c.767G>A	c.(766-768)AGA>AAA	p.R256K	HDX_uc011mqv.1_Missense_Mutation_p.R256K|HDX_uc004eel.1_Missense_Mutation_p.R198K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	256						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GTTTTGTGTTCTACAGTAAGG	0.453		NaN											0	0	0	0.01441	0	47	163				
DRP2	1821	broad.mit.edu	37	X	100497935	100497935	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100497935C>T	uc004egz.2	+	9	1387	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	DRP2_uc011mrh.1_Missense_Mutation_p.R262W	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	340					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GGATGCCCACCGGGACTTTGG	0.512		NaN											0	0	0	0.00874	0	43	181				
TAF7L	54457	broad.mit.edu	37	X	100537423	100537423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:100537423C>T	uc004ehb.2	-	5	568	c.556G>A	c.(556-558)GAT>AAT	p.D186N	TAF7L_uc004eha.2_Missense_Mutation_p.D100N|TAF7L_uc004ehc.1_Missense_Mutation_p.D100N	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	186					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						ATATCACCATCAGCAGTGCAC	0.393		NaN											0	0	0	0.006122	0	18	87				
GLRA4	441509	broad.mit.edu	37	X	102974114	102974114	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:102974114G>C	uc011mse.1	-	7	1225	c.804C>G	c.(802-804)CTC>CTG	p.L268L	GLRA4_uc010nou.2_Silent_p.L268L	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	268	Helical; (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						GGATGACGATGAGTAGGCTGG	0.557		NaN											0	0	0	0.01441	0	60	248				
RGAG1	57529	broad.mit.edu	37	X	109695177	109695177	+	Silent	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:109695177C>G	uc004eor.1	+	3	1578	c.1332C>G	c.(1330-1332)GTC>GTG	p.V444V	RGAG1_uc011msr.1_Silent_p.V444V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	444										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGATGACAGTCCCAAGCTCTG	0.512		NaN											0	0	0	0.01441	0	60	239				
LAMP2	3920	broad.mit.edu	37	X	119581866	119581866	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:119581866T>C	uc004est.3	-	5	751	c.571A>G	c.(571-573)AAA>GAA	p.K191E	LAMP2_uc004ess.3_Missense_Mutation_p.K191E|LAMP2_uc011mtz.1_Missense_Mutation_p.K80E|LAMP2_uc011mua.1_Missense_Mutation_p.K144E|LAMP2_uc010nqp.1_Missense_Mutation_p.K191E	NM_002294	NP_002285	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	191	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1						GTTTTGTCTTTATCACACAGG	0.408		NaN											0	0	0	0.011902	0	46	132				
BCORL1	63035	broad.mit.edu	37	X	129185834	129185834	+	Splice_Site	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:129185834G>A	uc004evb.1	+	12	4811	c.4697_splice	c.e12-1	p.E1566_splice	BCORL1_uc004evc.1_Splice_Site_p.E402_splice	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TCCCCTTACAGAGGAAAAAGA	0.473		NaN											0	0	0	0.01441	0	78	292				
ZIC3	7547	broad.mit.edu	37	X	136649816	136649816	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:136649816C>G	uc004fak.2	+	1	1471	c.966C>G	c.(964-966)CAC>CAG	p.H322Q		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	322	Nuclear localization signal.|C2H2-type 2; atypical.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TCCGAGTGCACACGGGCGAGA	0.597		NaN											0	0	0	0.01441	0	55	186				
MAGEA10	4109	broad.mit.edu	37	X	151303655	151303655	+	Silent	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:151303655G>C	uc004ffk.2	-	5	846	c.438C>G	c.(436-438)CTC>CTG	p.L146L	MAGEA10_uc004ffl.2_Silent_p.L146L	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	146	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GATACTTGAAGAGCAGAAACT	0.443		NaN											0	0	0	0.01441	0	67	183				
PLXNB3	5365	broad.mit.edu	37	X	153040417	153040417	+	Silent	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153040417G>A	uc004fii.2	+	24	4188	c.4014G>A	c.(4012-4014)GAG>GAA	p.E1338E	PLXNB3_uc010nuk.2_Silent_p.E1361E|PLXNB3_uc011mzd.1_Silent_p.E977E|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1338	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCCGAGCGCGCCTTCT	0.706		NaN											0	0	0	0.004656	0	24	86				
FLNA	2316	broad.mit.edu	37	X	153577785	153577785	+	Silent	SNP	C	C	T			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153577785C>T	uc004fkk.2	-	47	7950	c.7701G>A	c.(7699-7701)CTG>CTA	p.L2567L	FLNA_uc004fki.2_Silent_p.L607L|FLNA_uc011mzn.1_Silent_p.L700L|FLNA_uc010nuu.1_Silent_p.L2559L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2567	Self-association site, tail.|Filamin 24.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCCTTGCTCAGCCCCAGGC	0.657		NaN											0	0	0	0.01441	0	51	119				
RPL10	6134	broad.mit.edu	37	X	153629109	153629109	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:153629109G>A	uc004fkm.2	+	7	747	c.559G>A	c.(559-561)GAA>AAA	p.E187K	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.L132L|RPL10_uc004fkn.1_Missense_Mutation_p.E187K|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	187					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGGTGGCTGAAAAGCGGCT	0.527		NaN											0	0	0	0.008291	0	10	37				
F8	2157	broad.mit.edu	37	X	154157864	154157864	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chrX:154157864G>C	uc004fmt.2	-	14	4372	c.4201C>G	c.(4201-4203)CAA>GAA	p.Q1401E		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1401	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTATTTGCTTGAGGGATGCTA	0.443		NaN											0	0	0	0.01441	0	50	229				
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:1268732G>A	uc010nyk.1	+	5	1573	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	525	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTGGACTGCGAGGCGGGCAG	0.692		NaN											0	0	0	0.009096	0	4	11				
CCDC27	148870	broad.mit.edu	37	1	3670737	3670737	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:3670737G>A	uc001akv.2	+	2	455	c.374G>A	c.(373-375)CGA>CAA	p.R125Q		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATGGAACTTCGAAGGGTCTTC	0.592		NaN											0	0	0	0.00632	0	27	139				
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:4772146G>A	uc001alm.1	+	2	597	c.216G>A	c.(214-216)GCG>GCA	p.A72A	AJAP1_uc001aln.2_Silent_p.A72A	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	72	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.632		NaN											0	0	0	0.000602	0	5	17				
SPATA21	374955	broad.mit.edu	37	1	16735685	16735685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:16735685C>T	uc001ayn.2	-	7	1084	c.601G>A	c.(601-603)GAG>AAG	p.E201K	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.E178K	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	201	Potential.						calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGCTCTGCTCTTCCGGCTCC	0.627		NaN											0	0	0	0.004672	0	3	36				
PADI2	11240	broad.mit.edu	37	1	17413062	17413062	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:17413062G>C	uc001baf.2	-	7	870	c.788C>G	c.(787-789)TCA>TGA	p.S263*	PADI2_uc010ocm.1_Missense_Mutation_p.Q182E|PADI2_uc001bag.1_Nonsense_Mutation_p.S263*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	263					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GACCAGGCCTGAGAAGCCCTC	0.652		NaN											0	0	0	0.001984	0	6	33				
PQLC2	54896	broad.mit.edu	37	1	19653820	19653820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:19653820G>A	uc001bby.2	+	8	1070	c.718G>A	c.(718-720)GAG>AAG	p.E240K	PQLC2_uc001bbz.2_Missense_Mutation_p.E175K|PQLC2_uc001bca.2_Missense_Mutation_p.E240K|PQLC2_uc001bcb.2_Missense_Mutation_p.E129K|PQLC2_uc001bcc.2_Missense_Mutation_p.E129K	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	240	PQ-loop 2.|Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAAACCCCGAGGAGGGCCA	0.637		NaN											0	0	0	0.003163	0	14	41				
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:21307591G>A	uc001bec.2	-	4	416	c.160C>T	c.(160-162)CTG>TTG	p.L54L	EIF4G3_uc010odj.1_Silent_p.L54L|EIF4G3_uc009vpz.2_Silent_p.L54L|EIF4G3_uc001bed.2_Silent_p.L54L|EIF4G3_uc001bef.2_Silent_p.L54L|EIF4G3_uc001bee.2_Silent_p.L61L|EIF4G3_uc001beg.2_Silent_p.L54L|EIF4G3_uc010odk.1_Silent_p.L54L|EIF4G3_uc001beh.2_Silent_p.L65L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	54					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517		NaN											0	0	0	0.001855	0	13	45				
ARID1A	8289	broad.mit.edu	37	1	27087921	27087921	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27087921C>T	uc001bmv.1	+	6	2581	c.2208C>T	c.(2206-2208)ATC>ATT	p.I736I	ARID1A_uc001bmt.1_Silent_p.I736I|ARID1A_uc001bmu.1_Silent_p.I736I|ARID1A_uc001bmw.1_Silent_p.I353I	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	736					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGACAGCATCATGCATCCTT	0.547		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.004007	0	13	40				
WASF2	10163	broad.mit.edu	37	1	27744801	27744801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27744801G>A	uc001bof.1	-	4	604	c.388C>T	c.(388-390)CCT>TCT	p.P130S	WASF2_uc010ofl.1_Missense_Mutation_p.P130S	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	130					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGAGGGGGAGGAGTATCACAG	0.423		NaN											0	0	0	0.004482	0	9	28				
OPRD1	4985	broad.mit.edu	37	1	29185686	29185686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:29185686G>T	uc001brf.1	+	2	690	c.448G>T	c.(448-450)GTC>TTC	p.V150F		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	150	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTACATCGCTGTCTGCCACCC	0.577		NaN											1	0	4.68919e-08	0.008291	4.93976e-08	10	40				
MACF1	23499	broad.mit.edu	37	1	39797292	39797292	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39797292C>G	uc010oiu.1	+	1	483	c.352C>G	c.(352-354)CAA>GAA	p.Q118E	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1683	Plectin 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTTTTCATCAAGGCCTCAT	0.413		NaN											0	0	0	0.000602	0	5	551				
MACF1	23499	broad.mit.edu	37	1	39827347	39827347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39827347C>T	uc010oiu.1	+	13	8220	c.8089C>T	c.(8089-8091)CAG>TAG	p.Q2697*	MACF1_uc010ois.1_Nonsense_Mutation_p.Q2195*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2103*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1282*|MACF1_uc001cdb.1_Nonsense_Mutation_p.Q1282*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4262	LRR 15.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACAGATCCAGGTGAGGAT	0.358		NaN											0	0	0	0.00361	0	299	46				
TRIT1	54802	broad.mit.edu	37	1	40310268	40310268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40310268C>T	uc010oiz.1	-	9	1065	c.1051G>A	c.(1051-1053)GAT>AAT	p.D351N	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.D47N|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.D105N|TRIT1_uc001ceh.3_Missense_Mutation_p.D105N|TRIT1_uc009vvv.2_Missense_Mutation_p.D184N|TRIT1_uc001cei.3_Missense_Mutation_p.D105N|TRIT1_uc001ceq.2_Missense_Mutation_p.D47N|TRIT1_uc001cek.2_Missense_Mutation_p.D47N|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.D269N|TRIT1_uc001cen.2_Missense_Mutation_p.D105N|TRIT1_uc001ceo.2_Missense_Mutation_p.D105N|TRIT1_uc001cep.2_Missense_Mutation_p.D105N	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	351					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCGAGACATCAGATACCTCT	0.433		NaN											0	0	0	0.001984	0	6	265				
CCDC30	728621	broad.mit.edu	37	1	43011099	43011099	+	Missense_Mutation	SNP	G	G	C	rs12746482		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:43011099G>C	uc009vwk.1	+	4	384	c.274G>C	c.(274-276)GAA>CAA	p.E92Q	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	92	Potential.										0						GCTTTCACAAGAATTTGCACA	0.289		NaN											0	0	0	0.000602	0	5	412				
ELAVL4	1996	broad.mit.edu	37	1	50666507	50666507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:50666507C>T	uc001csb.2	+	7	1068	c.800C>T	c.(799-801)TCT>TTT	p.S267F	ELAVL4_uc001cry.3_Intron|ELAVL4_uc001crz.3_Intron|ELAVL4_uc001csa.3_Intron|ELAVL4_uc001csc.3_Intron|ELAVL4_uc010omz.1_Intron	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	267					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GTCCCCCCTTCTGCTTGTCCC	0.522		NaN											0	0	0	0.00499	0	16	60				
TTC39A	22996	broad.mit.edu	37	1	51778567	51778567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:51778567C>G	uc001csl.2	-	3	303	c.198G>C	c.(196-198)GAG>GAC	p.E66D	TTC39A_uc001csk.2_Missense_Mutation_p.E66D|TTC39A_uc010ond.1_Missense_Mutation_p.E38D|TTC39A_uc010one.1_Missense_Mutation_p.E65D|TTC39A_uc010onf.1_Missense_Mutation_p.E69D|TTC39A_uc001csn.2_Missense_Mutation_p.E65D|TTC39A_uc001cso.1_Missense_Mutation_p.E62D|TTC39A_uc009vyy.1_Missense_Mutation_p.E38D	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	66							binding			skin(1)	1						TGGCCTGCATCTCCAGGATGG	0.542		NaN											0	0	0	0.010818	0	32	136				
FAM73A	374986	broad.mit.edu	37	1	78249010	78249010	+	Missense_Mutation	SNP	C	C	G	rs146841294		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:78249010C>G	uc001dhx.2	+	2	201	c.169C>G	c.(169-171)CTG>GTG	p.L57V	FAM73A_uc010ork.1_Missense_Mutation_p.L57V|FAM73A_uc010orl.1_Intron	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	57						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TGATCTTCCTCTGACTTGGTA	0.358		NaN											0	0	0	0.002299	0	21	325				
LPHN2	23266	broad.mit.edu	37	1	82456581	82456581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:82456581C>G	uc001dit.3	+	21	4145	c.3964C>G	c.(3964-3966)CTT>GTT	p.L1322V	LPHN2_uc001dis.2_Missense_Mutation_p.L302V|LPHN2_uc001diu.2_Missense_Mutation_p.L1322V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1378	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATGCCCAATCTTAGAGACTC	0.473		NaN											0	0	0	0.004672	0	3	88				
CLCA1	1179	broad.mit.edu	37	1	86954697	86954697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86954697C>T	uc001dlt.2	+	8	1330	c.1201C>T	c.(1201-1203)CCA>TCA	p.P401S	CLCA1_uc001dls.1_Missense_Mutation_p.P340S	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	401	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GAAGAAATATCCAACTGATGG	0.433		NaN											0	0	0	0.011902	0	43	50				
CLCA1	1179	broad.mit.edu	37	1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86961284G>A	uc001dlt.2	+	12	2168	c.2039G>A	c.(2038-2040)GGA>GAA	p.G680E		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	680					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463		NaN											0	0	0	0.008291	0	9	74				
BRDT	676	broad.mit.edu	37	1	92446495	92446495	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:92446495G>A	uc001dok.3	+	10	1859	c.1510G>A	c.(1510-1512)GAA>AAA	p.E504K	BRDT_uc001dol.3_Missense_Mutation_p.E504K|BRDT_uc010osz.1_Missense_Mutation_p.E508K|BRDT_uc009wdf.2_Missense_Mutation_p.E431K|BRDT_uc010ota.1_Missense_Mutation_p.E458K|BRDT_uc010otb.1_Missense_Mutation_p.E458K|BRDT_uc001dom.3_Missense_Mutation_p.E504K	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCTGAAGATGAAGATAATGC	0.333		NaN											0	0	0	0.006214	0	9	82				
VANGL1	81839	broad.mit.edu	37	1	116206759	116206759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:116206759G>C	uc001efv.1	+	4	953	c.682G>C	c.(682-684)GAT>CAT	p.D228H	VANGL1_uc009wgy.1_Missense_Mutation_p.D226H|VANGL1_uc001efw.1_Missense_Mutation_p.D228H	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	228	Helical; Name=4; (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCCTTGTGGATGCCCTCCT	0.557		NaN											0	0	0	0.010504	0	18	67				
MTMR11	10903	broad.mit.edu	37	1	149905798	149905798	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149905798C>G	uc001etl.3	-	8	972	c.721G>C	c.(721-723)GAC>CAC	p.D241H	MTMR11_uc001etm.1_Missense_Mutation_p.D169H|MTMR11_uc010pbm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbn.1_Missense_Mutation_p.D83H	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	241	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCACTGTCCAGAATTCGG	0.493		NaN											0	0	0	0.00361	0	55	194				
OTUD7B	56957	broad.mit.edu	37	1	149916075	149916075	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149916075C>T	uc001etn.2	-	12	2569	c.2213G>A	c.(2212-2214)CGA>CAA	p.R738Q		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	738					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGTAGGGTCGCCCAGGAGG	0.642		NaN											0	0	0	0.00278	0	22	58				
ANP32E	81611	broad.mit.edu	37	1	150193030	150193030	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150193030C>T	uc001etw.2	-	7	1140	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.R209Q|ANP32E_uc010pbv.1_Missense_Mutation_p.R216Q|ANP32E_uc001etv.3_Missense_Mutation_p.R256Q	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	257	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAGCATCTCGTTTCCTCTT	0.383		NaN											0	0	0	0.00874	0	38	317				
C1orf51	148523	broad.mit.edu	37	1	150259343	150259343	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150259343G>A	uc001euh.2	+	6	1271	c.1135G>A	c.(1135-1137)GAT>AAT	p.D379N	C1orf51_uc001eui.2_Missense_Mutation_p.D291N|C1orf51_uc001euj.2_Missense_Mutation_p.D379N	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	379											0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGCTGCTGATGCTCATCT	0.458		NaN											0	0	0	0.002299	0	20	74				
THEM4	117145	broad.mit.edu	37	1	151861806	151861806	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:151861806G>A	uc001ezj.1	-	3	509	c.330C>T	c.(328-330)CTC>CTT	p.L110L	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	110					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGGTGAAGAGCTGGGCCT	0.438		NaN											0	0	0	0.006214	0	10	116				
HRNR	388697	broad.mit.edu	37	1	152192570	152192570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:152192570C>T	uc001ezt.1	-	3	1611	c.1535G>A	c.(1534-1536)GGT>GAT	p.G512D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	512	5.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGATGAACCTGCACTAGA	0.572		NaN											0	0	0	0.00361	0	120	236				
DENND4B	9909	broad.mit.edu	37	1	153906268	153906268	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:153906268C>G	uc001fdd.1	-	20	3422	c.3021G>C	c.(3019-3021)CTG>CTC	p.L1007L	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1007										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCCCCTGTCAGGCTCAGGT	0.647		NaN											0	0	0	0.00308	0	8	13				
UBAP2L	9898	broad.mit.edu	37	1	154223614	154223614	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:154223614G>C	uc001fep.3	+	13	1478	c.1311G>C	c.(1309-1311)GAG>GAC	p.E437D	UBAP2L_uc009wot.2_Missense_Mutation_p.E437D|UBAP2L_uc010pek.1_Missense_Mutation_p.E429D|UBAP2L_uc010pel.1_Missense_Mutation_p.E447D|UBAP2L_uc010pen.1_Missense_Mutation_p.E351D	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	437					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTTCAGGAGAAGTCACCTG	0.532		NaN											0	0	0	0.004007	0	15	128				
ASH1L	55870	broad.mit.edu	37	1	155319163	155319163	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155319163C>T	uc009wqq.2	-	19	8004	c.7524G>A	c.(7522-7524)GTG>GTA	p.V2508V	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.V2503V|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2508	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAAAAGCTTCCACTGTCTTAT	0.383		NaN											0	0	0	0.002299	0	24	58				
KIAA0907	22889	broad.mit.edu	37	1	155896471	155896471	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155896471G>A	uc001fmi.1	-	6	701	c.677C>T	c.(676-678)TCA>TTA	p.S226L	KIAA0907_uc001fmj.1_Missense_Mutation_p.S226L|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S226L|KIAA0907_uc001fmm.2_Intron|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.S226L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	226											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATACCCCTGACTGGAAGGG	0.363		NaN											0	0	0	0.008361	0	23	59				
MEF2D	4209	broad.mit.edu	37	1	156446809	156446809	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:156446809G>A	uc001fpc.2	-	7	1240	c.850C>T	c.(850-852)CAC>TAC	p.H284Y	MEF2D_uc001fpb.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpd.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpe.1_Missense_Mutation_p.H284Y|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	284					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTACCAAGTGATGCATTAAC	0.607		NaN											0	0	0	0.001984	0	7	61				
CD1A	909	broad.mit.edu	37	1	158226807	158226807	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:158226807G>A	uc001frt.2	+	4	1369	c.836G>A	c.(835-837)CGG>CAG	p.R279Q		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	279	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGTCCTGTCGGGTGAAGCAC	0.612		NaN											0	0	0	0.001368	0	13	50				
COPA	1314	broad.mit.edu	37	1	160282929	160282929	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:160282929G>T	uc009wti.2	-	10	1265	c.871C>A	c.(871-873)CAT>AAT	p.H291N	COPA_uc001fvv.3_Missense_Mutation_p.H291N|COPA_uc009wtj.1_Missense_Mutation_p.H237N	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	291					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACGATCATGGTCTCTGCGG	0.403		NaN											1	0	6.40141e-05	0.010729	6.5925e-05	11	53				
FCGR3B	2215	broad.mit.edu	37	1	161600882	161600882	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:161600882C>T	uc009wul.2	-	1	277	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	1					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGCTGCCACATGATGCCAC	0.542		NaN											0	0	0	0.004482	0	7	27				
ZBTB37	84614	broad.mit.edu	37	1	173839952	173839952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839952C>T	uc009wwp.1	+	3	865	c.589C>T	c.(589-591)CAG>TAG	p.Q197*	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjq.3_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjr.2_Nonsense_Mutation_p.Q197*	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACCAGCCCTCAGATCATTGA	0.552		NaN											0	0	0	0.00245	0	12	43				
ZBTB37	84614	broad.mit.edu	37	1	173839957	173839957	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839957C>T	uc009wwp.1	+	3	870	c.594C>T	c.(592-594)ATC>ATT	p.I198I	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Silent_p.I198I|ZBTB37_uc001gjq.3_Silent_p.I198I|ZBTB37_uc001gjr.2_Silent_p.I198I	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCCTCAGATCATTGAACCAA	0.557		NaN											0	0	0	0.001855	0	11	40				
XPR1	9213	broad.mit.edu	37	1	180775291	180775291	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:180775291G>C	uc001goi.2	+	5	733	c.541G>C	c.(541-543)GAG>CAG	p.E181Q	XPR1_uc009wxm.2_Missense_Mutation_p.E181Q|XPR1_uc009wxn.2_Missense_Mutation_p.E181Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	181	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GGCTCACGTAGAGGTGGCCCC	0.398		NaN											0	0	0	0.004482	0	9	71				
ASPM	259266	broad.mit.edu	37	1	197112229	197112229	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:197112229C>G	uc001gtu.2	-	3	1410	c.1153G>C	c.(1153-1155)GAG>CAG	p.E385Q	ASPM_uc001gtv.2_Missense_Mutation_p.E385Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	385					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTAACTGACTCTGATTCTAGA	0.289		NaN											0	0	0	0.001855	0	11	58				
RAB7L1	8934	broad.mit.edu	37	1	205741642	205741642	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:205741642G>C	uc001hdf.3	-	3	518	c.178C>G	c.(178-180)CAG>GAG	p.Q60E	RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.Q60E|RAB7L1_uc010prr.1_Intron|RAB7L1_uc009xbq.2_Intron	NM_003929	NP_003920	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1 isoform	60					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCACAGCTGAAGCCGCACT	0.383		NaN											0	0	0	0.00361	0	92	102				
USH2A	7399	broad.mit.edu	37	1	216243607	216243607	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:216243607C>T	uc001hku.1	-	30	6272	c.5885G>A	c.(5884-5886)AGA>AAA	p.R1962K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1962	Extracellular (Potential).|Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGCGGACTCTTGAGGGAGT	0.428		NaN								HNSCC(13;0.011)			0	0	0	0.001168	0	6	44				
TLR5	7100	broad.mit.edu	37	1	223286345	223286345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:223286345C>T	uc001hnv.1	-	4	475	c.29G>A	c.(28-30)GGA>GAA	p.G10E	TLR5_uc001hnw.1_Missense_Mutation_p.G10E	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	10					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GAGCACCACTCCTAGGAGAAG	0.517		NaN											0	0	0	0.009096	0	4	29				
ACTA1	58	broad.mit.edu	37	1	229568092	229568092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:229568092C>T	uc001htm.2	-	4	646	c.541G>A	c.(541-543)GAC>AAC	p.D181N		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	181			D -> H (in NEM3).|D -> G (in NEM3).|D -> N (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCCGCCAGGTCCAGGCGCATG	0.577		NaN											0	0	0	0.000602	0	5	35				
ERO1LB	56605	broad.mit.edu	37	1	236390014	236390014	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:236390014G>C	uc001hxt.2	-	11	994	c.738C>G	c.(736-738)TTC>TTG	p.F246L		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	246					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TAAGCTTATAGAAGACTCTTT	0.318		NaN											0	0	0	0.010504	0	21	59				
ZNF695	57116	broad.mit.edu	37	1	247150452	247150452	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:247150452C>G	uc009xgu.2	-	4	1510	c.1365G>C	c.(1363-1365)AAG>AAC	p.K455N	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	455	C2H2-type 11.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATGAATTCTCTTATGATTAG	0.373		NaN											0	0	0	0.008361	0	30	22				
PITRM1	10531	broad.mit.edu	37	10	3205933	3205933	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205933G>A	uc010qah.1	-	6	711	c.679C>T	c.(679-681)CAC>TAC	p.H227Y	PITRM1_uc001igr.1_Missense_Mutation_p.H259Y|PITRM1_uc001igt.1_Missense_Mutation_p.H259Y|PITRM1_uc001igu.1_Missense_Mutation_p.H251Y|PITRM1_uc010qai.1_Missense_Mutation_p.H230Y|PITRM1_uc001igw.1_Missense_Mutation_p.H259Y|uc001igx.1_5'Flank			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	227					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TTGCTTGGGTGATAGTGAGTG	0.463		NaN											0	0	0	0.00499	0	16	76				
PITRM1	10531	broad.mit.edu	37	10	3205948	3205948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205948G>A	uc010qah.1	-	6	696	c.664C>T	c.(664-666)CAT>TAT	p.H222Y	PITRM1_uc001igr.1_Missense_Mutation_p.H254Y|PITRM1_uc001igt.1_Missense_Mutation_p.H254Y|PITRM1_uc001igu.1_Missense_Mutation_p.H246Y|PITRM1_uc010qai.1_Missense_Mutation_p.H225Y|PITRM1_uc001igw.1_Missense_Mutation_p.H254Y|uc001igx.1_5'Flank			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	222					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TGAGTGGCATGAAACTGCTTA	0.458		NaN											0	0	0	0.004007	0	15	72				
SVIL	6840	broad.mit.edu	37	10	29820209	29820209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:29820209G>C	uc001iut.1	-	10	2771	c.2018C>G	c.(2017-2019)TCA>TGA	p.S673*	SVIL_uc001iuu.1_Nonsense_Mutation_p.S279*	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	673					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTCTGAATGTGAAGTGCACCT	0.333		NaN											0	0	0	0.010729	0	11	51				
BMS1	9790	broad.mit.edu	37	10	43297618	43297618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:43297618G>A	uc001jaj.2	+	13	2639	c.2281G>A	c.(2281-2283)GGA>AGA	p.G761R		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	761					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CTTCGTGACTGGAAAGTGGGA	0.413		NaN											0	0	0	0.001168	0	5	36				
MAPK8	5599	broad.mit.edu	37	10	49632597	49632597	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:49632597C>T	uc009xnz.2	+	7	881	c.657C>T	c.(655-657)ATC>ATT	p.I219I	MAPK8_uc001jgl.2_Silent_p.I219I|MAPK8_uc001jgm.2_Silent_p.I219I|MAPK8_uc001jgo.2_Silent_p.I219I|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Silent_p.I219I|MAPK8_uc010qgk.1_Silent_p.I219I|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	219	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGAAATGATCAAAGGTGGTG	0.338		NaN											0	0	0	0.001168	0	6	66				
ADAMTS14	140766	broad.mit.edu	37	10	72489913	72489913	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:72489913G>A	uc001jrh.2	+	6	1010	c.1010G>A	c.(1009-1011)CGC>CAC	p.R337H	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R337H	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	337	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						CAGGTGTGTCGCTGGGCACAC	0.652		NaN											0	0	0	0.008291	0	9	49				
PPP3CB	5532	broad.mit.edu	37	10	75214185	75214185	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:75214185C>T	uc001jue.2	-	10	1306	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	PPP3CB_uc001juf.2_Missense_Mutation_p.E391K|PPP3CB_uc001jug.2_Missense_Mutation_p.E391K|PPP3CB_uc001jui.2_Missense_Mutation_p.E409K|PPP3CB_uc001juh.2_Missense_Mutation_p.E305K|PPP3CB_uc010qkj.1_Missense_Mutation_p.E19K	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	391										skin(1)	1	Prostate(51;0.0119)					AACTGGTCTTCACCTTCAGTC	0.328		NaN											0	0	0	0.008291	0	11	55				
SFTPD	6441	broad.mit.edu	37	10	81701777	81701777	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:81701777G>A	uc001kbh.2	-	5	526	c.483C>T	c.(481-483)CTC>CTT	p.L161L	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	161	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TAGGGCCTGCGAGGCCTCTTG	0.622		NaN											0	0	0	0.008871	0	20	79				
HIF1AN	55662	broad.mit.edu	37	10	102304781	102304781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:102304781C>G	uc001krj.3	+	4	726	c.651C>G	c.(649-651)ATC>ATG	p.I217M		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	217	JmjC.|Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AACGATGCATCTTATTCCCTC	0.453		NaN											0	0	0	0.000602	0	3	91				
GBF1	8729	broad.mit.edu	37	10	104119055	104119055	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:104119055C>T	uc001kux.1	+	11	1280	c.1040C>T	c.(1039-1041)TCA>TTA	p.S347L	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.S347L|GBF1_uc001kuz.1_Missense_Mutation_p.S348L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	347					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAGTCCCAGTCAGCATCTGTG	0.537		NaN											0	0	0	0.008871	0	20	40				
XPNPEP1	7511	broad.mit.edu	37	10	111640657	111640657	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:111640657G>A	uc001kyp.1	-	11	1085	c.945C>T	c.(943-945)ATC>ATT	p.I315I	XPNPEP1_uc009xxt.1_Silent_p.I358I|XPNPEP1_uc001kyq.1_Silent_p.I244I|XPNPEP1_uc010qrb.1_Silent_p.I358I|XPNPEP1_uc010qra.1_Silent_p.I82I	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	315					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGGCGATGCAGATGGGGGTGT	0.567		NaN											0	0	0	0.009096	0	4	19				
ZDHHC6	64429	broad.mit.edu	37	10	114205095	114205095	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:114205095A>T	uc001kzv.2	-	2	524	c.100T>A	c.(100-102)TGT>AGT	p.C34S	VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.C34S|ZDHHC6_uc009xya.1_Missense_Mutation_p.C34S|VTI1A_uc001kzx.2_5'Flank	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	34	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGGTAGAACATATTGCTATA	0.398		NaN											0	0	0	0.010729	0	11	32				
TDRD1	56165	broad.mit.edu	37	10	115947866	115947866	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:115947866C>T	uc001lbg.1	+	2	429	c.276C>T	c.(274-276)ATC>ATT	p.I92I	TDRD1_uc001lbf.2_Silent_p.I83I|TDRD1_uc001lbh.1_Silent_p.I83I|TDRD1_uc001lbi.1_Silent_p.I83I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	92					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGAATGGCATCAACGGAGAAG	0.398		NaN											0	0	0	0.001855	0	13	51				
ABLIM1	3983	broad.mit.edu	37	10	116361688	116361688	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:116361688C>G	uc010qsg.1	-	2	376	c.277G>C	c.(277-279)GAG>CAG	p.E93Q	ABLIM1_uc010qsh.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsk.1_Missense_Mutation_p.E17Q|ABLIM1_uc009xyp.2_Missense_Mutation_p.E27Q|ABLIM1_uc001lbz.1_Missense_Mutation_p.E16Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	93					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACAGGCTTCTCTGATGGGTGG	0.493		NaN											0	0	0	0.001168	0	5	39				
ZRANB1	54764	broad.mit.edu	37	10	126631257	126631257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:126631257G>C	uc001lic.2	+	1	566	c.195G>C	c.(193-195)TTG>TTC	p.L65F	ZRANB1_uc010qug.1_Missense_Mutation_p.L91F	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	65					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTAGTCCTTTGATATGTCCAG	0.413		NaN											0	0	0	0.003271	0	35	69				
DPYSL4	10570	broad.mit.edu	37	10	134013904	134013904	+	Missense_Mutation	SNP	G	G	C	rs145582956		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:134013904G>C	uc009ybb.2	+	9	1010	c.856G>C	c.(856-858)GAC>CAC	p.D286H		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	286					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.D286D(2)		central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCTGGGCACCGACGGTTCACA	0.677		NaN											0	0	0	0.001855	0	10	51				
PDDC1	347862	broad.mit.edu	37	11	771391	771391	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:771391G>A	uc001lrc.2	-	6	511	c.486C>T	c.(484-486)TTC>TTT	p.F162F	PDDC1_uc010qwm.1_Silent_p.F112F|PDDC1_uc001lrd.2_Silent_p.F162F|PDDC1_uc001lrf.1_Missense_Mutation_p.S140L|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.F112F|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.F126F|PDDC1_uc010qwq.1_Silent_p.F76F|PDDC1_uc010qwr.1_Silent_p.F162F|PDDC1_uc010qws.1_Silent_p.F112F	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	162						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGGGCGAAGCCGGGGG	0.701		NaN											0	0	0	0.006214	0	9	13				
OR51D1	390038	broad.mit.edu	37	11	4661760	4661760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:4661760C>T	uc010qyk.1	+	1	740	c.740C>T	c.(739-741)GCA>GTA	p.A247V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	247	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGGGCAGCACTCAAGGCT	0.537		NaN											0	0	0	0.004482	0	9	73				
NLRP10	338322	broad.mit.edu	37	11	7982182	7982182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:7982182G>A	uc001mfv.1	-	2	994	c.977C>T	c.(976-978)TCC>TTC	p.S326F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	326	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGTGAAATAGGAGCTGAAGTA	0.517		NaN											0	0	0	0.00278	0	22	55				
TMEM41B	440026	broad.mit.edu	37	11	9304976	9304976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9304976C>G	uc001mhm.2	-	7	1179	c.871G>C	c.(871-873)GAG>CAG	p.E291Q	TMEM41B_uc001mhn.1_Missense_Mutation_p.E291Q	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	291						integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TATTTTTACTCAAATTTCTGC	0.333		NaN											0	0	0	0.004672	0	2	16				
TMEM41B	440026	broad.mit.edu	37	11	9308127	9308127	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9308127C>G	uc001mhm.2	-	6	889	c.581G>C	c.(580-582)AGA>ACA	p.R194T	TMEM41B_uc001mhn.1_Missense_Mutation_p.R194T	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	194						integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAGATGTTCTCTATGACGTTC	0.303		NaN											0	0	0	0.004656	0	25	127				
IPO7	10527	broad.mit.edu	37	11	9450660	9450660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9450660G>A	uc001mho.2	+	14	1650	c.1508G>A	c.(1507-1509)AGA>AAA	p.R503K		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	503					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTAACAAGAAGATGTCTGATT	0.373		NaN											0	0	0	0.006122	0	19	63				
EIF4G2	1982	broad.mit.edu	37	11	10820632	10820632	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820632G>C	uc001mjc.2	-	21	2982	c.2565C>G	c.(2563-2565)TTC>TTG	p.F855L	EIF4G2_uc001mjb.2_Missense_Mutation_p.F649L|EIF4G2_uc009ygf.2_Missense_Mutation_p.F649L|EIF4G2_uc001mjd.2_Missense_Mutation_p.F817L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	855	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTCATAGAAGTGCACAA	0.343		NaN											0	0	0	0.008871	0	20	57				
EIF4G2	1982	broad.mit.edu	37	11	10820954	10820954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820954G>A	uc001mjc.2	-	20	2759	c.2342C>T	c.(2341-2343)TCT>TTT	p.S781F	EIF4G2_uc001mjb.2_Missense_Mutation_p.S575F|EIF4G2_uc009ygf.2_Missense_Mutation_p.S575F|EIF4G2_uc001mjd.2_Missense_Mutation_p.S743F	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	781	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTTCACTAGAAATGTACTG	0.423		NaN											0	0	0	0.001368	0	12	32				
EIF4G2	1982	broad.mit.edu	37	11	10821742	10821742	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10821742G>T	uc001mjc.2	-	18	2431	c.2014C>A	c.(2014-2016)CCT>ACT	p.P672T	EIF4G2_uc001mjb.2_Missense_Mutation_p.P466T|EIF4G2_uc009ygf.2_Missense_Mutation_p.P466T|EIF4G2_uc001mjd.2_Missense_Mutation_p.P634T	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	672					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAAGAGAGGAAAATGGGTG	0.408		NaN											1	0	7.93312e-07	0.00245	8.31893e-07	15	40				
EIF4G2	1982	broad.mit.edu	37	11	10825066	10825066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10825066C>T	uc001mjc.2	-	9	1191	c.774G>A	c.(772-774)ATG>ATA	p.M258I	EIF4G2_uc001mjb.2_Missense_Mutation_p.M52I|EIF4G2_uc009ygf.2_Missense_Mutation_p.M52I|EIF4G2_uc001mjd.2_Missense_Mutation_p.M258I|EIF4G2_uc001mjf.1_Missense_Mutation_p.M52I|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	258	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCACTGTCCTCATTATCTGAC	0.403		NaN											0	0	0	0.010729	0	10	56				
PLEKHA7	144100	broad.mit.edu	37	11	16812671	16812671	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:16812671G>A	uc001mmo.2	-	20	2836	c.2821C>T	c.(2821-2823)CTG>TTG	p.L941L	PLEKHA7_uc010rcu.1_Silent_p.L942L|PLEKHA7_uc001mmm.2_Silent_p.L44L|PLEKHA7_uc010rcv.1_Silent_p.L516L|PLEKHA7_uc001mmn.2_Silent_p.L650L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	941	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TCTCTTGGCAGAGGCGGCACA	0.637		NaN											0	0	0	0.001984	0	7	29				
KIF18A	81930	broad.mit.edu	37	11	28045346	28045346	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:28045346T>A	uc001msc.2	-	16	2738	c.2556A>T	c.(2554-2556)AAA>AAT	p.K852N		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	852					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						GTCGAACACGTTTGGCAAATC	0.323		NaN											0	0	0	0.001984	0	6	44				
CAT	847	broad.mit.edu	37	11	34470812	34470812	+	Missense_Mutation	SNP	G	G	A	rs148918137	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:34470812G>A	uc001mvm.2	+	2	223	c.140G>A	c.(139-141)CGT>CAT	p.R47H	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	47					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GTAGGGCCCCGTGGGCCCCTT	0.473		NaN											0	0	0	0.004007	0	17	72				
PSMC3	5702	broad.mit.edu	37	11	47446777	47446777	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:47446777C>G	uc001nfh.2	-	3	374	c.180G>C	c.(178-180)TTG>TTC	p.L60F	PSMC3_uc009ylr.1_Intron	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGTGACTCTCAACACTTCAC	0.473		NaN											0	0	0	0.00245	0	15	89				
PTPRJ	5795	broad.mit.edu	37	11	48134415	48134415	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:48134415C>G	uc001ngp.3	+	3	587	c.232C>G	c.(232-234)CAG>GAG	p.Q78E	PTPRJ_uc001ngo.3_Missense_Mutation_p.Q78E	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	78	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TGGAACACCTCAGGTGGAAAC	0.468		NaN											0	0	0	0.008871	0	19	44				
FOLH1	2346	broad.mit.edu	37	11	49229913	49229913	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:49229913G>A	uc001ngy.2	-	1	310	c.49C>T	c.(49-51)CGC>TGC	p.R17C	FOLH1_uc001ngz.2_Missense_Mutation_p.R17C|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	17	Cytoplasmic (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAGCGCGGGCGGCGCGCGGTG	0.711		NaN											0	0	0	0.004672	0	3	7				
OR5M10	390167	broad.mit.edu	37	11	56344784	56344784	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:56344784C>G	uc001niz.1	-	1	414	c.414G>C	c.(412-414)AAG>AAC	p.K138N		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCAAATGTTCTTGGACATCC	0.468		NaN											0	0	0	0.000602	0	4	91				
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57886441C>T	uc001nml.1	-	1	476	c.476G>A	c.(475-477)CGT>CAT	p.R159H	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542		NaN											0	0	0	0.001984	0	7	53				
OR1S2	219958	broad.mit.edu	37	11	57970695	57970695	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57970695C>G	uc010rkb.1	-	1	959	c.959G>C	c.(958-960)AGA>ACA	p.R320T		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				AGAAATTTTTCTATTGATGAG	0.428		NaN											0	0	0	0.008291	0	10	97				
CCDC86	79080	broad.mit.edu	37	11	60617418	60617418	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:60617418G>T	uc001nqa.2	+	3	1063	c.894G>T	c.(892-894)AAG>AAT	p.K298N	CCDC86_uc001nqb.2_Missense_Mutation_p.K42N	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	298	Potential.				interspecies interaction between organisms	nucleus					0						TCCAGGAGAAGAAACAGCGCC	0.607		NaN											1	0	0.00198382	0.001984	0.0020249	5	18				
FADS1	3992	broad.mit.edu	37	11	61580081	61580081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:61580081C>T	uc010rlm.1	-	3	674	c.546G>A	c.(544-546)ATG>ATA	p.M182I	FADS1_uc001nsh.2_Missense_Mutation_p.M41I|FADS1_uc010rln.1_Missense_Mutation_p.M41I	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	125	Helical; (Potential).				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTTGGCCTTCATGAGCCCCA	0.552		NaN											0	0	0	0.00308	0	6	23				
C11orf48	79081	broad.mit.edu	37	11	62437250	62437250	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62437250G>C	uc001nue.2	-	3	611	c.176C>G	c.(175-177)CCG>CGG	p.P59R	C11orf48_uc001nuf.2_Missense_Mutation_p.P59R|C11orf48_uc010rmd.1_Missense_Mutation_p.P59R|C11orf83_uc001nui.3_5'Flank	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	85											0						CACAATAGACGGCAGATGGGA	0.532		NaN											0	0	0	0.001984	0	6	111				
NXF1	10482	broad.mit.edu	37	11	62569095	62569095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62569095C>G	uc001nvf.1	-	7	784	c.648G>C	c.(646-648)ATG>ATC	p.M216I	NXF1_uc001nvg.1_Missense_Mutation_p.M216I|NXF1_uc009yog.1_Missense_Mutation_p.M259I|NXF1_uc010rmh.1_Missense_Mutation_p.M79I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	216	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						ATCGTTTGCTCATGATCAGCT	0.493		NaN											0	0	0	0.012319	0	23	80				
RTN3	10313	broad.mit.edu	37	11	63487538	63487538	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:63487538G>A	uc001nxq.2	+	3	1751	c.1564G>A	c.(1564-1566)GAA>AAA	p.E522K	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.E503K|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.E410K|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	522					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						AATTCAGGCTGAAAAACCTGT	0.368		NaN											0	0	0	0.009096	0	3	32				
KCNK4	50801	broad.mit.edu	37	11	64067068	64067068	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64067068C>G	uc001nzj.1	+	7	1375	c.1052C>G	c.(1051-1053)TCG>TGG	p.S351W	KCNK4_uc001nzk.1_Silent_p.L235L|KCNK4_uc010rnk.1_Missense_Mutation_p.S179W|KCNK4_uc001nzl.1_Silent_p.L235L|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.S351W|KCNK4_uc001nzo.2_Missense_Mutation_p.S351W|KCNK4_uc001nzp.1_Missense_Mutation_p.S237W|C11orf20_uc009ypm.2_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	351	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GACGAGTCCTCGGATACGCAG	0.652		NaN											0	0	0	0.00245	0	11	32				
ATG2A	23130	broad.mit.edu	37	11	64669472	64669472	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64669472C>T	uc001obx.2	-	29	4196	c.4081G>A	c.(4081-4083)GAG>AAG	p.E1361K	ATG2A_uc001obw.2_Missense_Mutation_p.E126K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1361							protein binding			ovary(1)|central_nervous_system(1)	2						ATGCAGAACTCATCACTGTCC	0.622		NaN											0	0	0	0.006214	0	9	74				
C11orf85	283129	broad.mit.edu	37	11	64708057	64708057	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64708057A>C	uc001ocb.1	-	8	609	c.535T>G	c.(535-537)TCC>GCC	p.S179A	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.V122G	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	179											0						TTGTTTCTGGACATCAGTGAT	0.408		NaN											0	0	0	0.008871	0	17	78				
FIBP	9158	broad.mit.edu	37	11	65651873	65651873	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:65651873C>T	uc001ogd.2	-	9	1136	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N	FIBP_uc009yqu.2_Missense_Mutation_p.R324Q|FIBP_uc001oge.2_Missense_Mutation_p.D332N	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	339					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		CGGAAGCCATCGAGGGAGTGG	0.627		NaN									OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	25				
RBM4B	83759	broad.mit.edu	37	11	66436149	66436149	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:66436149C>T	uc001oja.2	-	2	1695	c.1026G>A	c.(1024-1026)ATG>ATA	p.M342I	RBM4B_uc001ojb.2_Missense_Mutation_p.M342I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	342	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						CATACCGGGCCATGTCATACA	0.517		NaN											0	0	0	0.00245	0	12	32				
CPT1A	1374	broad.mit.edu	37	11	68525189	68525189	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68525189G>A	uc001oog.3	-	19	2415	c.2245C>T	c.(2245-2247)CGC>TGC	p.R749C	CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	749	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCCAAAGCGATGAGAATCC	0.398		NaN											0	0	0	0.00308	0	8	74				
IGHMBP2	3508	broad.mit.edu	37	11	68703931	68703931	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68703931C>T	uc001ook.1	+	13	2085	c.1983C>T	c.(1981-1983)CAC>CAT	p.H661H	IGHMBP2_uc001ool.1_Silent_p.H285H|IGHMBP2_uc001oom.1_Silent_p.H239H	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	661	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTCCAGCCACGCTGCCACCA	0.597		NaN											0	0	0	0.008871	0	18	72				
CCND1	595	broad.mit.edu	37	11	69456203	69456203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:69456203C>T	uc001opa.2	+	1	331	c.122C>T	c.(121-123)TCG>TTG	p.S41L		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	41	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCGCGCCCTCGGTGTCCTAC	0.652		NaN	T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			0	0	0	0.006122	0	15	63				
NUMA1	4926	broad.mit.edu	37	11	71715792	71715792	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:71715792C>T	uc001orl.1	-	24	6072	c.5900G>A	c.(5899-5901)CGA>CAA	p.R1967Q	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R149Q|NUMA1_uc009ysw.1_Missense_Mutation_p.R1534Q|NUMA1_uc001ork.1_Missense_Mutation_p.R831Q|NUMA1_uc001orm.1_Missense_Mutation_p.R1953Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1967					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CATGCTGGCTCGGCGCAGGGT	0.627		NaN	T	RARA	APL								0	0	0	0.00499	0	17	27				
P2RY2	5029	broad.mit.edu	37	11	72945966	72945966	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945966C>T	uc001otj.2	+	3	1095	c.762C>T	c.(760-762)TTC>TTT	p.F254F	P2RY2_uc001otk.2_Silent_p.F254F|P2RY2_uc001otl.2_Silent_p.F254F	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	254	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	TGGCTGTCTTCGCCCTCTGCT	0.652		NaN											0	0	0	0.009096	0	4	42				
P2RY2	5029	broad.mit.edu	37	11	72945972	72945972	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945972C>G	uc001otj.2	+	3	1101	c.768C>G	c.(766-768)CTC>CTG	p.L256L	P2RY2_uc001otk.2_Silent_p.L256L|P2RY2_uc001otl.2_Silent_p.L256L	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	256	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	TCTTCGCCCTCTGCTTCCTGC	0.647		NaN											0	0	0	0.004672	0	3	44				
PAAF1	80227	broad.mit.edu	37	11	73627688	73627688	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:73627688G>A	uc001ouk.1	+	9	952	c.918G>A	c.(916-918)CTG>CTA	p.L306L	PAAF1_uc001oul.1_Silent_p.L289L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L289L|PAAF1_uc001oun.1_5'Flank	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	306	WD 4.				interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					TTTATCAGCTGGATGTGAGGA	0.423		NaN											0	0	0	0.000602	0	4	41				
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:85445395G>A	uc010rth.1	-	6	1250	c.974C>T	c.(973-975)TCC>TTC	p.S325F	SYTL2_uc010rtg.1_Missense_Mutation_p.S326F|SYTL2_uc010rti.1_Missense_Mutation_p.S325F|SYTL2_uc010rtj.1_Missense_Mutation_p.S277F|SYTL2_uc001pbf.3_Missense_Mutation_p.S325F|SYTL2_uc010rtf.1_Missense_Mutation_p.S183F	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	325					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448		NaN											0	0	0	0.00333	0	23	83				
HEPHL1	341208	broad.mit.edu	37	11	93778980	93778980	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93778980G>A	uc001pep.2	+	2	469	c.312G>A	c.(310-312)TTG>TTA	p.L104L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	104	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468		NaN											0	0	0	0.008291	0	10	22				
HEPHL1	341208	broad.mit.edu	37	11	93844129	93844129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93844129G>A	uc001pep.2	+	18	3263	c.3106G>A	c.(3106-3108)GAA>AAA	p.E1036K	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1036	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAAACCATTGAACTGTTTGC	0.438		NaN											0	0	0	0.008291	0	9	14				
MMP8	4317	broad.mit.edu	37	11	102584518	102584518	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:102584518C>G	uc001phe.2	-	9	1360	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q	MMP8_uc010rut.1_Nonstop_Mutation_p.*304Y|MMP8_uc010ruu.1_Missense_Mutation_p.E398Q	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	421	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACTTTACTCTCTATTCCTGGA	0.313		NaN											0	0	0	0.003163	0	14	71				
GUCY1A2	2977	broad.mit.edu	37	11	106849346	106849346	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:106849346G>A	uc001pjg.1	-	3	876	c.486C>T	c.(484-486)CTC>CTT	p.L162L	GUCY1A2_uc010rvo.1_Silent_p.L162L|GUCY1A2_uc009yxn.1_Silent_p.L162L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	162					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTAATATACCGAGTATATTAG	0.368		NaN											0	0	0	0.009096	0	3	22				
TTC12	54970	broad.mit.edu	37	11	113210177	113210177	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113210177G>C	uc001pnu.2	+	10	912	c.807G>C	c.(805-807)CTG>CTC	p.L269L	TTC12_uc001pnv.2_Silent_p.L275L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.L119L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	269							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTGAGATCCTGACTGAAATGA	0.498		NaN											0	0	0	0.001368	0	11	52				
CLDN25	644672	broad.mit.edu	37	11	113650985	113650985	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113650985C>G	uc009yyw.1	+	1	468	c.468C>G	c.(466-468)ATC>ATG	p.I156M		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	156	Extracellular (Potential).					integral to membrane|tight junction	structural molecule activity				0						TCCCTGACATCATACCTCGGT	0.582		NaN											0	0	0	0.001168	0	6	26				
CLDN25	644672	broad.mit.edu	37	11	113651015	113651015	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113651015C>G	uc009yyw.1	+	1	498	c.498C>G	c.(496-498)CTC>CTG	p.L166L		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	166	Helical; (Potential).					integral to membrane|tight junction	structural molecule activity				0						GAGGTGCCCTCTACTTGGGCT	0.557		NaN											0	0	0	0.006214	0	10	17				
APOA5	116519	broad.mit.edu	37	11	116661323	116661323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:116661323C>G	uc001ppr.2	-	3	630	c.622G>C	c.(622-624)GAG>CAG	p.E208Q	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.E208Q|APOA5_uc009yzf.2_Missense_Mutation_p.E208Q|APOA5_uc009yzg.2_Missense_Mutation_p.E234Q	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	208					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGGTGCAGCTCCTGCACGTGG	0.706		NaN											0	0	0	0.006214	0	9	14				
UBE4A	9354	broad.mit.edu	37	11	118267074	118267074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267074G>C	uc001psw.2	+	20	3249	c.3120G>C	c.(3118-3120)CAG>CAC	p.Q1040H	UBE4A_uc001psv.2_Missense_Mutation_p.Q1047H	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1040	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCATGGACCAGATCCGGCCAA	0.418		NaN											0	0	0	0.006214	0	6	60				
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267125G>C	uc001psw.2	+	20	3300	c.3171G>C	c.(3169-3171)GAG>GAC	p.E1057D	UBE4A_uc001psv.2_Missense_Mutation_p.E1064D	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1057					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438		NaN											0	0	0	0.006214	0	7	48				
MFRP	83552	broad.mit.edu	37	11	119212379	119212379	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:119212379G>C	uc001pwj.2	-	13	1779	c.1619C>G	c.(1618-1620)TCT>TGT	p.S540C	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S422C	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGGCAGACAGAGCGGCAAGG	0.647		NaN											0	0	0	0.001855	0	14	26				
OR10G9	219870	broad.mit.edu	37	11	123893845	123893845	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:123893845C>A	uc010sad.1	+	1	126	c.126C>A	c.(124-126)CTC>CTA	p.L42L		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAACCTCCTCATCCTGCTGG	0.572		NaN											1	0	3.1745e-13	0.008361	3.38548e-13	25	62				
OR10G7	390265	broad.mit.edu	37	11	123909583	123909583	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:123909583G>T	uc001pzq.1	-	1	126	c.126C>A	c.(124-126)CTC>CTA	p.L42L		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCAGCAGGATGAGGAGGTTCC	0.577		NaN											1	0	5.18039e-06	0.00308	5.39136e-06	5	54				
VWA5A	4013	broad.mit.edu	37	11	124012328	124012328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124012328G>C	uc001pzu.2	+	16	2112	c.1903G>C	c.(1903-1905)GAC>CAC	p.D635H	VWA5A_uc001pzt.2_Missense_Mutation_p.D635H	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	635										upper_aerodigestive_tract(1)|ovary(1)	2						CTTACACTCTGACCGTCCTCC	0.463		NaN											0	0	0	0.005443	0	25	47				
OR8D1	283159	broad.mit.edu	37	11	124179832	124179832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124179832G>C	uc010sag.1	-	1	831	c.831C>G	c.(829-831)TTC>TTG	p.F277L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCGTGGTGTAGAACACAGAGG	0.453		NaN											0	0	0	0.002299	0	22	30				
ACAD8	27034	broad.mit.edu	37	11	134131719	134131719	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134131719G>A	uc001qhk.2	+	9	1088	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.E266K|ACAD8_uc001qhl.2_Missense_Mutation_p.E216K	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	343					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCTGCAGGAGGAGAGGAAGGA	0.567		NaN											0	0	0	0.00245	0	14	27				
GLB1L2	89944	broad.mit.edu	37	11	134244148	134244148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134244148G>T	uc001qhp.2	+	17	1893	c.1705G>T	c.(1705-1707)GAG>TAG	p.E569*	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	569					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGAAGCTGGAGGTTGGTAA	0.567		NaN											1	0	3.59834e-05	0.001168	3.71684e-05	6	86				
SLC6A13	6540	broad.mit.edu	37	12	331745	331745	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:331745G>A	uc001qic.1	-	13	1521	c.1468C>T	c.(1468-1470)CCT>TCT	p.P490S	SLC6A13_uc009zdj.1_Missense_Mutation_p.P480S|SLC6A13_uc010sdl.1_Missense_Mutation_p.P398S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	490	Helical; Name=11; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGATAAGAGGCCATGGCCTG	0.478		NaN											0	0	0	0.001368	0	9	11				
KCNA1	3736	broad.mit.edu	37	12	5021802	5021802	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:5021802G>C	uc001qnh.2	+	2	2363	c.1258G>C	c.(1258-1260)GAG>CAG	p.E420Q		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	420					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGAGAAACTGAGGGGGAAGA	0.527		NaN											0	0	0	0.001984	0	6	569				
CHD4	1108	broad.mit.edu	37	12	6710690	6710690	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:6710690G>T	uc001qpo.2	-	6	728	c.564C>A	c.(562-564)CTC>CTA	p.L188L	CHD4_uc001qpn.2_Silent_p.L181L|CHD4_uc001qpp.2_Silent_p.L185L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	188					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGCAGCAATGAGGGGTCTGG	0.438		NaN											1	0	8.96267e-189	0.00361	9.61779e-189	345	360				
CD163	9332	broad.mit.edu	37	12	7647847	7647847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:7647847C>T	uc001qsz.3	-	6	1378	c.1250G>A	c.(1249-1251)GGA>GAA	p.G417E	CD163_uc001qta.3_Missense_Mutation_p.G417E|CD163_uc009zfw.2_Missense_Mutation_p.G417E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	417	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GAGTGCAGATCCACATCCCAG	0.468		NaN											0	0	0	0.00245	0	13	96				
A2M	2	broad.mit.edu	37	12	9229475	9229475	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:9229475C>G	uc001qvk.1	-	28	3522	c.3409G>C	c.(3409-3411)GAA>CAA	p.E1137Q	A2M_uc001qvj.1_Missense_Mutation_p.E179Q|A2M_uc009zgk.1_Missense_Mutation_p.E987Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1137					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGTCCCCTTCTTGTGCTGTC	0.512		NaN											0	0	0	0.001855	0	12	115				
TAS2R8	50836	broad.mit.edu	37	12	10959334	10959334	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:10959334C>T	uc010shh.1	-	1	246	c.246G>A	c.(244-246)CAG>CAA	p.Q82Q		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	82	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2						AAATGACTATCTGTTGTTTAT	0.343		NaN											0	0	0	0.006214	0	10	66				
TAS2R42	353164	broad.mit.edu	37	12	11339184	11339184	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:11339184G>A	uc001qzr.1	-	1	360	c.360C>T	c.(358-360)CTC>CTT	p.L120L	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	120	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACCTCAGCCAGAGGAAAAGGG	0.398		NaN											0	0	0	0.003163	0	13	27				
HEBP1	50865	broad.mit.edu	37	12	13142262	13142262	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:13142262G>A	uc001rbd.2	-	2	339	c.166C>T	c.(166-168)CGG>TGG	p.R56W	HEBP1_uc001rbf.2_Missense_Mutation_p.R56W	NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	56					circadian rhythm	extracellular region				breast(1)	1		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATTGCTTCCCGTAGAGCCTCA	0.542		NaN											0	0	0	0.005524	0	38	105				
SLCO1B3	28234	broad.mit.edu	37	12	21028360	21028360	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:21028360C>G	uc001rek.2	+	8	1045	c.919C>G	c.(919-921)CAA>GAA	p.Q307E	SLCO1B3_uc001rel.2_Missense_Mutation_p.Q307E|SLCO1B3_uc010sil.1_Missense_Mutation_p.Q307E|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.Q132E	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	307	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TGATAGAAATCAAACAGCTAA	0.303		NaN											0	0	0	0.004007	0	15	58				
ERGIC2	51290	broad.mit.edu	37	12	29498381	29498381	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:29498381C>T	uc001riv.2	-	11	953	c.820G>A	c.(820-822)GAA>AAA	p.E274K	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	274	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CTTACCCTTTCTGTCACAGAA	0.323		NaN											0	0	0	0.010504	0	19	114				
KIF21A	55605	broad.mit.edu	37	12	39726896	39726896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:39726896C>T	uc001rly.2	-	19	2647	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151H|KIF21A_uc001rlx.2_Missense_Mutation_p.R821H|KIF21A_uc001rlz.2_Missense_Mutation_p.R798H|KIF21A_uc010skl.1_Missense_Mutation_p.R821H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTTGCCGACGAAGAGCCGT	0.443		NaN											0	0	0	0.001168	0	6	96				
LETMD1	25875	broad.mit.edu	37	12	51449628	51449628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:51449628C>T	uc001rxm.2	+	5	540	c.484C>T	c.(484-486)CCC>TCC	p.P162S	LETMD1_uc010smz.1_Missense_Mutation_p.P112S|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Missense_Mutation_p.P106S|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.P175S|LETMD1_uc001rxn.2_Missense_Mutation_p.P5S|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.P45S|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	162	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						GTACCTGTTTCCCAGGCAACT	0.418		NaN											0	0	0	0.007291	0	27	59				
PRR13	54458	broad.mit.edu	37	12	53839821	53839821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53839821C>T	uc001scz.3	+	4	589	c.425C>T	c.(424-426)TCT>TTT	p.S142F	PRR13_uc001scy.3_Missense_Mutation_p.S92F|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.3_Missense_Mutation_p.S142F	NM_018457	NP_060927	Q9NZ81	PRR13_HUMAN	proline rich 13 isoform 1	142	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCCTCCTCCTCTTCCAGCAGT	0.512		NaN											0	0	0	0.002836	0	32	64				
NPFF	8620	broad.mit.edu	37	12	53900619	53900619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53900619C>G	uc001sdw.1	-	3	447	c.283G>C	c.(283-285)GAG>CAG	p.E95Q		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	95					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0						TTCAGCCCCTCTCCAGCCCGG	0.552		NaN											0	0	0	0.00632	0	25	124				
HOXC4	3221	broad.mit.edu	37	12	54448006	54448006	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:54448006G>A	uc001seu.2	+	3	980	c.300G>A	c.(298-300)CCG>CCA	p.P100P	HOXC4_uc001sex.2_Silent_p.P100P	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCTGCGAGCCGGCGCCTCTCT	0.731		NaN											0	0	0	0.000602	0	5	24				
FRS2	10818	broad.mit.edu	37	12	69964277	69964277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:69964277G>A	uc001suy.2	+	7	743	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	FRS2_uc001suz.2_Missense_Mutation_p.R78Q|FRS2_uc009zrj.2_Missense_Mutation_p.R78Q|FRS2_uc009zrk.2_Missense_Mutation_p.R78Q	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	78	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAAAGTGGTCGAAGGTGTCAA	0.363		NaN											0	0	0	0.010729	0	12	41				
PLXNC1	10154	broad.mit.edu	37	12	94691157	94691157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:94691157C>G	uc001tdc.2	+	26	4281	c.4032C>G	c.(4030-4032)TTC>TTG	p.F1344L	PLXNC1_uc010sut.1_Missense_Mutation_p.F391L|PLXNC1_uc009zsv.2_Missense_Mutation_p.F83L	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1344	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGCACAAGTTCAAAGTAAAAG	0.448		NaN											0	0	0	0.000602	0	5	27				
UTP20	27340	broad.mit.edu	37	12	101767492	101767492	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:101767492G>A	uc001tia.1	+	54	7234	c.7078G>A	c.(7078-7080)GAG>AAG	p.E2360K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AATCAGCCTCGAGAAAAAAGA	0.418		NaN											0	0	0	0.008291	0	9	57				
TXNRD1	7296	broad.mit.edu	37	12	104725378	104725378	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:104725378G>A	uc010swk.1	+	14	1631	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K	TXNRD1_uc010swl.1_Missense_Mutation_p.E387K|TXNRD1_uc010swm.1_Missense_Mutation_p.E439K|TXNRD1_uc010swn.1_Missense_Mutation_p.E387K|TXNRD1_uc010swo.1_Missense_Mutation_p.E387K|TXNRD1_uc010swp.1_Missense_Mutation_p.E349K|TXNRD1_uc010swq.1_Missense_Mutation_p.E437K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E453K	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	537					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						TGGCCTTTCTGAGGAGAAAGC	0.338		NaN											0	0	0	0.00308	0	5	23				
APPL2	55198	broad.mit.edu	37	12	105600843	105600843	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105600843C>T	uc001tlf.1	-	8	835	c.617G>A	c.(616-618)GGA>GAA	p.G206E	APPL2_uc010swt.1_Missense_Mutation_p.G163E|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.G212E|APPL2_uc009zuq.2_Missense_Mutation_p.G163E	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	206	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						CCCTACCTGTCCATGGGCAAA	0.557		NaN											0	0	0	0.00245	0	14	49				
APPL2	55198	broad.mit.edu	37	12	105601808	105601808	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105601808C>G	uc001tlf.1	-	7	634	c.416_splice	c.e7-1	p.E139_splice	APPL2_uc010swt.1_Splice_Site_p.E96_splice|APPL2_uc001tlg.1_Splice_Site|APPL2_uc010swu.1_Missense_Mutation_p.E145Q|APPL2_uc009zuq.2_Splice_Site_p.E96_splice	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH						cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						AGGTCATGCTCTAAAAATAAA	0.443		NaN											0	0	0	0.005443	0	27	153				
TCP11L2	255394	broad.mit.edu	37	12	106740129	106740129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106740129C>T	uc001tln.2	+	10	1555	c.1381C>T	c.(1381-1383)CCT>TCT	p.P461S		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	461										ovary(3)	3						ATGCATGCCTCCTATGCCAGG	0.418		NaN											0	0	0	0.006214	0	8	49				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106820987C>T	uc001tlp.2	+	13	1336	c.1114C>T	c.(1114-1116)CTT>TTT	p.L372F	POLR3B_uc001tlq.2_Missense_Mutation_p.L314F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTATCTCTTCTTTTTGAAGA	0.274		NaN											0	0	0	0.00308	0	8	16				
RIC8B	55188	broad.mit.edu	37	12	107208957	107208957	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:107208957G>A	uc001tlx.2	+	3	741	c.616G>A	c.(616-618)GAT>AAT	p.D206N	RIC8B_uc001tlw.2_Missense_Mutation_p.D206N|RIC8B_uc001tly.2_Missense_Mutation_p.D166N|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	206					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						CAAGTGGACCGATGAGTATGA	0.507		NaN											0	0	0	0.006122	0	18	88				
ACAD10	80724	broad.mit.edu	37	12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	rs142030532	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112194215G>A	uc001tsq.2	+	21	3318	c.3118G>A	c.(3118-3120)GAC>AAC	p.D1040N	ACAD10_uc009zvx.2_Missense_Mutation_p.D1071N|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	1040							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GCGCTTTGCCGACGGCCCTGA	0.647		NaN											0	0	0	0.004482	0	9	32				
NAA25	80018	broad.mit.edu	37	12	112477060	112477060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112477060C>A	uc001ttm.2	-	22	2642	c.2622G>T	c.(2620-2622)AAG>AAT	p.K874N	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.K846N|NAA25_uc009zwa.1_Missense_Mutation_p.K852N	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	874	Poly-Lys.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTTTTTTCTTCTTTTTCTTTT	0.343		NaN											1	0	1.5842e-08	0.001855	1.67396e-08	13	47				
C12orf51	283450	broad.mit.edu	37	12	112609068	112609068	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112609068C>T	uc009zwc.2	-	61	10538	c.10520_splice	c.e61-1	p.N3507_splice		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						ATGGGCACGTCTGAGGGCGCA	0.622		NaN											0	0	0	0.001168	0	5	9				
MED13L	23389	broad.mit.edu	37	12	116420239	116420239	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:116420239C>T	uc001tvw.2	-	22	5180	c.5125G>A	c.(5125-5127)GAA>AAA	p.E1709K		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1709					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCAGCATTTCTGTGTAGCAG	0.393		NaN											0	0	0	0.003954	0	23	99				
WDR66	144406	broad.mit.edu	37	12	122398579	122398579	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:122398579G>A	uc009zxk.2	+	14	2364	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	741							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CGCTCTCATCGCAAAAGCATT	0.488		NaN											0	0	0	0.004482	0	8	100				
GTF2H3	2967	broad.mit.edu	37	12	124132646	124132646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:124132646G>A	uc001ufo.1	+	4	363	c.337G>A	c.(337-339)GAA>AAA	p.E113K	GTF2H3_uc010tau.1_Missense_Mutation_p.E72K	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3,	113					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AGTTATTGTTGAAGAGATTAA	0.353		NaN						NER					0	0	0	0.001855	0	13	69				
ULK1	8408	broad.mit.edu	37	12	132380333	132380333	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:132380333G>A	uc001uje.2	+	3	478	c.210G>A	c.(208-210)CTG>CTA	p.L70L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	70	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTAGGAACTGAAACATGAAA	0.632		NaN											0	0	0	0.006214	0	9	59				
ANKLE2	23141	broad.mit.edu	37	12	133327431	133327431	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:133327431C>G	uc001ukx.2	-	3	712	c.645G>C	c.(643-645)AGG>AGC	p.R215S	ANKLE2_uc001uky.3_Missense_Mutation_p.R153S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	215						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AAACATAGATCCTTTCTGGGT	0.423		NaN											0	0	0	0.004482	0	8	74				
LATS2	26524	broad.mit.edu	37	13	21562346	21562346	+	Missense_Mutation	SNP	G	G	A	rs147172274	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:21562346G>A	uc009zzs.2	-	4	1938	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C	LATS2_uc001unr.3_Missense_Mutation_p.R525C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	525					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GACTTGCTGCGCAGCAGCAGG	0.726		NaN											0	0	0	0.00308	0	8	47				
CENPJ	55835	broad.mit.edu	37	13	25457361	25457361	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:25457361C>G	uc001upt.3	-	17	4224	c.3971G>C	c.(3970-3972)AGA>ACA	p.R1324T	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1324					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCCTTAACTCTTATCCGACC	0.428		NaN											0	0	0	0.004672	0	3	150				
TRPC4	7223	broad.mit.edu	37	13	38225536	38225536	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:38225536C>T	uc001uws.2	-	8	2180	c.1945G>A	c.(1945-1947)GAA>AAA	p.E649K	TRPC4_uc010abv.2_Missense_Mutation_p.E229K|TRPC4_uc001uwt.2_Missense_Mutation_p.E649K|TRPC4_uc010tey.1_Missense_Mutation_p.E649K|TRPC4_uc010abw.2_Missense_Mutation_p.E476K|TRPC4_uc010abx.2_Missense_Mutation_p.E649K|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	649	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTACCTCCTTCTTCAAAATAA	0.428		NaN											0	0	0	0.008871	0	18	49				
ELF1	1997	broad.mit.edu	37	13	41507794	41507794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:41507794G>A	uc001uxs.2	-	9	2000	c.1627C>T	c.(1627-1629)CAG>TAG	p.Q543*	ELF1_uc010tfc.1_Nonsense_Mutation_p.Q519*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q436*	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	543					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCAACCAGCTGTGAACTGCGA	0.453		NaN											0	0	0	0.008291	0	10	99				
DNAJC15	29103	broad.mit.edu	37	13	43643082	43643082	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:43643082G>A	uc001uyy.2	+	3	578	c.177G>A	c.(175-177)CGG>CGA	p.R59R		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	59						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		ACGCATTTCGGATCTGGAAAC	0.333		NaN											0	0	0	0.009096	0	3	35				
TSC22D1	8848	broad.mit.edu	37	13	45147767	45147767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:45147767G>C	uc001uzn.3	-	1	2935	c.2444C>G	c.(2443-2445)TCA>TGA	p.S815*	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	815	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAACTGCTGTGAAACAATTCC	0.468		NaN											0	0	0	0.00499	0	18	101				
ZC3H13	23091	broad.mit.edu	37	13	46559516	46559516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46559516C>G	uc010tfw.1	-	9	1642	c.1636G>C	c.(1636-1638)GAG>CAG	p.E546Q	ZC3H13_uc001vas.1_Missense_Mutation_p.E546Q|ZC3H13_uc001vat.1_Missense_Mutation_p.E546Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	546	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCTGGACTCATTCCTTATT	0.438		NaN											0	0	0	0.001168	0	6	76				
CPB2	1361	broad.mit.edu	37	13	46656653	46656653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46656653G>A	uc001vaw.2	-	4	374	c.307C>T	c.(307-309)CAA>TAA	p.Q103*	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.Q103*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	103					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCTGCTGTTGAATAAGATCT	0.483		NaN											0	0	0	0.003954	0	23	63				
DHRS12	79758	broad.mit.edu	37	13	52373793	52373793	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:52373793C>T	uc001vfq.2	-	2	115	c.67G>A	c.(67-69)GAA>AAA	p.E23K	DHRS12_uc001vfr.1_Missense_Mutation_p.M1I|DHRS12_uc001vfs.1_Missense_Mutation_p.M1I			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	23							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGCAGATTCATAGCCACTC	0.493		NaN											0	0	0	0.00361	0	78	104				
CKAP2	26586	broad.mit.edu	37	13	53036693	53036693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:53036693G>C	uc001vgv.2	+	5	1496	c.1299G>C	c.(1297-1299)TTG>TTC	p.L433F	CKAP2_uc001vgt.2_Missense_Mutation_p.L432F|CKAP2_uc001vgu.2_Missense_Mutation_p.L432F|CKAP2_uc010tha.1_Missense_Mutation_p.L384F	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	433					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GCCTGAACTTGATTAATGAGG	0.229		NaN											0	0	0	0.009096	0	4	48				
DIAPH3	81624	broad.mit.edu	37	13	60348372	60348372	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:60348372C>T	uc001vht.2	-	27	3489	c.3270G>A	c.(3268-3270)CAG>CAA	p.Q1090Q	DIAPH3_uc001vhu.2_Silent_p.Q827Q	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1090					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACTGAGACTCTGCCGAACAT	0.323		NaN											0	0	0	0.010504	0	19	20				
TBC1D4	9882	broad.mit.edu	37	13	75869130	75869130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:75869130G>C	uc001vjl.1	-	18	3523	c.3176C>G	c.(3175-3177)TCC>TGC	p.S1059C	TBC1D4_uc010tht.1_Missense_Mutation_p.S269C|TBC1D4_uc010thu.1_Missense_Mutation_p.S216C|TBC1D4_uc010aer.2_Missense_Mutation_p.S1051C|TBC1D4_uc010aes.2_Missense_Mutation_p.S996C	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1059	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGGAGCCTGGACAGCTGGTA	0.358		NaN											0	0	0	0.00245	0	13	66				
RNF113B	140432	broad.mit.edu	37	13	98829136	98829136	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:98829136C>T	uc001vnk.2	-	1	386	c.355G>A	c.(355-357)GAG>AAG	p.E119K	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	119							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTCCTTCTCGGTGTCCTGC	0.667		NaN											0	0	0	0.002299	0	22	35				
OR4E2	26686	broad.mit.edu	37	14	22133602	22133602	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:22133602C>T	uc010tmd.1	+	1	306	c.306C>T	c.(304-306)TTC>TTT	p.F102F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACAGCTCTTCTTCCTACATC	0.463		NaN											0	0	0	0.00361	0	81	130				
MMP14	4323	broad.mit.edu	37	14	23312531	23312531	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23312531G>T	uc001whc.2	+	5	988	c.754G>T	c.(754-756)GAC>TAC	p.D252Y		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	252	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCATTCCAGTGACCCCTCGGC	0.582		NaN											1	0	3.45872e-05	0.004007	3.57798e-05	14	40				
LRP10	26020	broad.mit.edu	37	14	23346713	23346713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23346713G>A	uc001whd.2	+	7	2672	c.2119G>A	c.(2119-2121)GAG>AAG	p.E707K	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	707	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCTGAGGCAGAGGATGAGCC	0.627		NaN											0	0	0	0.00308	0	7	7				
PSME1	5720	broad.mit.edu	37	14	24607692	24607692	+	Missense_Mutation	SNP	C	C	T	rs144591736	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:24607692C>T	uc001wmg.2	+	10	686	c.592C>T	c.(592-594)CGG>TGG	p.R198W	PSME1_uc001wmh.2_Missense_Mutation_p.R198W	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		GGGTGATTATCGGCAGCTGGT	0.607		NaN											0	0	0	0.004656	0	27	105				
ARHGAP5	394	broad.mit.edu	37	14	32560018	32560018	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560018A>G	uc001wrl.2	+	2	382	c.143A>G	c.(142-144)GAA>GGA	p.E48G	ARHGAP5_uc001wrm.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	48					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAGCAGATGAATATTATCCA	0.383		NaN											0	0	0	0.002299	0	21	40				
ARHGAP5	394	broad.mit.edu	37	14	32560228	32560228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560228G>A	uc001wrl.2	+	2	592	c.353G>A	c.(352-354)CGT>CAT	p.R118H	ARHGAP5_uc001wrm.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	118					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATATAAAACGTGCAGCTGCA	0.388		NaN											0	0	0	0.006214	0	9	37				
LRFN5	145581	broad.mit.edu	37	14	42355925	42355925	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:42355925C>G	uc001wvm.2	+	3	1295	c.97C>G	c.(97-99)CTT>GTT	p.L33V	LRFN5_uc010ana.2_Missense_Mutation_p.L33V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	33	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCTCCTAATCTTGCAACCCT	0.383		NaN								HNSCC(30;0.082)			0	0	0	0.001984	0	7	34				
OTX2	5015	broad.mit.edu	37	14	57270957	57270957	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:57270957G>A	uc001xcp.2	-	2	369	c.198C>T	c.(196-198)TTC>TTT	p.F66F	OTX2_uc010aou.2_Silent_p.F66F|OTX2_uc001xcq.2_Silent_p.F74F	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	66	Homeobox.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTCTCGCATGAAGATGTCTG	0.597		NaN											0	0	0	0.012319	0	21	31				
SYNE2	23224	broad.mit.edu	37	14	64519306	64519306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:64519306C>T	uc001xgm.2	+	48	8905	c.8675C>T	c.(8674-8676)TCA>TTA	p.S2892L	SYNE2_uc001xgl.2_Missense_Mutation_p.S2892L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2892	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGAATCTCAACACATCTT	0.413		NaN											0	0	0	0.012319	0	21	17				
C14orf43	91748	broad.mit.edu	37	14	74196502	74196502	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196502C>T	uc001xot.2	-	4	2719	c.1936G>A	c.(1936-1938)GAG>AAG	p.E646K	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E646K|C14orf43_uc010tud.1_Missense_Mutation_p.E646K|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AAGCTCCGCTCAGAGGGGTGG	0.622		NaN											0	0	0	0.001855	0	14	19				
C14orf43	91748	broad.mit.edu	37	14	74196685	74196685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196685C>G	uc001xot.2	-	4	2536	c.1753G>C	c.(1753-1755)GAG>CAG	p.E585Q	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E585Q|C14orf43_uc010tud.1_Missense_Mutation_p.E585Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TTCATGTCCTCTGCCTGGAGA	0.567		NaN											0	0	0	0.006214	0	10	26				
C14orf43	91748	broad.mit.edu	37	14	74205546	74205546	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74205546G>C	uc001xot.2	-	2	1949	c.1166C>G	c.(1165-1167)TCC>TGC	p.S389C	C14orf43_uc001xou.2_Missense_Mutation_p.S389C|C14orf43_uc010tud.1_Missense_Mutation_p.S389C|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	389	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CTGCCCCAGGGAGCCAGGTGG	0.677		NaN											0	0	0	0.001984	0	6	11				
RPS6KA5	9252	broad.mit.edu	37	14	91372604	91372604	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:91372604C>G	uc001xys.2	-	8	1061	c.846G>C	c.(844-846)ATG>ATC	p.M282I	RPS6KA5_uc010twi.1_Missense_Mutation_p.M203I|RPS6KA5_uc001xyt.2_Missense_Mutation_p.M282I|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	282	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTAAAGCACTCATTTCTTGGG	0.383		NaN											0	0	0	0.009096	0	4	55				
UBR7	55148	broad.mit.edu	37	14	93693381	93693381	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:93693381G>C	uc001ybm.3	+	11	1514	c.1278G>C	c.(1276-1278)TAG>TAC	p.*426Y	UBR7_uc001ybn.3_Nonstop_Mutation_p.*350Y|UBR7_uc010auq.2_Nonstop_Mutation_p.*275Y	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	426							ubiquitin-protein ligase activity|zinc ion binding				0						ACTGCAGCTAGAGTGGAGTAT	0.428		NaN											0	0	0	0.006214	0	10	35				
DDX24	57062	broad.mit.edu	37	14	94526925	94526925	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94526925C>T	uc001ycj.2	-	5	1531	c.1432G>A	c.(1432-1434)GAG>AAG	p.E478K	DDX24_uc010twq.1_Missense_Mutation_p.E435K|DDX24_uc010twr.1_Missense_Mutation_p.E228K	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	478	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGGCCTTTCTCAACCATCCGG	0.493		NaN											0	0	0	0.001855	0	14	49				
SERPINA9	327657	broad.mit.edu	37	14	94929550	94929550	+	Silent	SNP	C	C	T	rs139618805	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94929550C>T	uc001ydf.2	-	5	1349	c.1188G>A	c.(1186-1188)TCG>TCA	p.S396S	SERPINA9_uc001yde.2_Silent_p.S296S|SERPINA9_uc010avc.2_Silent_p.S247S|SERPINA9_uc001ydg.2_Silent_p.S360S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	378					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCCATCCTTCGATCGGACTA	0.498		NaN											0	0	0	0.010504	0	20	41				
SERPINA12	145264	broad.mit.edu	37	14	94956013	94956013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94956013C>G	uc001ydj.2	-	5	1793	c.997G>C	c.(997-999)GAG>CAG	p.E333Q		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	333					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CCATGTTCCTCAAAGATTTTG	0.562		NaN											0	0	0	0.001368	0	12	24				
GJD2	57369	broad.mit.edu	37	15	35044759	35044759	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:35044759C>T	uc001zis.1	-	2	886	c.886G>A	c.(886-888)GAG>AAG	p.E296K	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	296	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTACGAATCTCATAGATTGAC	0.527		NaN											0	0	0	0.001984	0	6	36				
MEIS2	4212	broad.mit.edu	37	15	37390256	37390256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:37390256C>T	uc001zjr.2	-	2	1194	c.157G>A	c.(157-159)GCG>ACG	p.A53T	MEIS2_uc001zjl.2_Missense_Mutation_p.A40T|MEIS2_uc010ucj.1_Missense_Mutation_p.A40T|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.A53T|MEIS2_uc001zjp.2_Missense_Mutation_p.A53T|MEIS2_uc001zjs.2_Missense_Mutation_p.A53T|MEIS2_uc001zju.2_Missense_Mutation_p.A40T|MEIS2_uc001zjt.2_Missense_Mutation_p.A53T	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	53					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGCGTGCGCGCCGTAGTGC	0.667		NaN											0	0	0	0.008291	0	8	43				
MAP1A	4130	broad.mit.edu	37	15	43817277	43817277	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:43817277G>C	uc001zrt.2	+	4	4073	c.3606G>C	c.(3604-3606)GAG>GAC	p.E1202D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1202						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTCAGAAGAGAGTCCCAGCA	0.537		NaN											0	0	0	0.003163	0	15	52				
CASC4	113201	broad.mit.edu	37	15	44624216	44624216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:44624216G>C	uc001zto.1	+	4	815	c.516G>C	c.(514-516)TTG>TTC	p.L172F	CASC4_uc001ztp.2_Missense_Mutation_p.L172F|CASC4_uc001ztq.2_Missense_Mutation_p.L172F|CASC4_uc010bdu.1_Intron	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	172	Lumenal (Potential).|Potential.					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGAAGGAATTGAGAGCACAGC	0.269		NaN											0	0	0	0.00308	0	4	29				
RPL4	6124	broad.mit.edu	37	15	66793735	66793735	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66793735G>C	uc002apv.2	-	6	710	c.654C>G	c.(652-654)ATC>ATG	p.I218M	RPL4_uc010bhr.2_Missense_Mutation_p.I124M|RPL4_uc002apw.2_Missense_Mutation_p.I124M|RPL4_uc002apx.2_Missense_Mutation_p.I124M|RPL4_uc010ujq.1_Missense_Mutation_p.I218M|SNORD18C_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	218					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						TGAAGGCCTTGATGATACCAT	0.443		NaN											0	0	0	0.005443	0	26	89				
LCTL	197021	broad.mit.edu	37	15	66853624	66853624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66853624C>G	uc002aqc.2	-	5	642	c.510G>C	c.(508-510)CAG>CAC	p.Q170H	LCTL_uc002aqd.3_5'UTR|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	170	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TGCTCACATTCTGCCACCCAC	0.522		NaN											0	0	0	0.012319	0	18	103				
ANPEP	290	broad.mit.edu	37	15	90349355	90349355	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:90349355C>G	uc002bop.3	-	2	752	c.460G>C	c.(460-462)GAG>CAG	p.E154Q		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	154	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCACCAGCTCAGTCTTGTCA	0.617		NaN											0	0	0	0.001855	0	11	47				
UNC45A	55898	broad.mit.edu	37	15	91496469	91496469	+	Missense_Mutation	SNP	C	C	T	rs8041417	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:91496469C>T	uc002bqg.2	+	19	2846	c.2506C>T	c.(2506-2508)CGG>TGG	p.R836W	UNC45A_uc002bqd.2_Missense_Mutation_p.R821W|UNC45A_uc010uqr.1_Missense_Mutation_p.R228W|UNC45A_uc002bqi.2_Missense_Mutation_p.R114W|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	836					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTGCTACAGCGGGCAGCTGC	0.622		NaN											0	0	0	0.005443	0	24	116				
UNKL	64718	broad.mit.edu	37	16	1416391	1416391	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1416391G>A	uc010brn.1	-	9	1041	c.1023C>T	c.(1021-1023)ATC>ATT	p.I341I	UNKL_uc002cln.2_Silent_p.I183I|UNKL_uc002clo.2_Silent_p.I180I|UNKL_uc002clp.2_Silent_p.I133I			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	631						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				GGAGCTGGAAGATCACCTGCA	0.697		NaN											0	0	0	0.004482	0	9	8				
MAPK8IP3	23162	broad.mit.edu	37	16	1817918	1817918	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1817918G>C	uc002cmk.2	+	28	3639	c.3519G>C	c.(3517-3519)GAG>GAC	p.E1173D	MAPK8IP3_uc002cml.2_Missense_Mutation_p.E1167D|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E1174D	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1173					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCCTGACAGAGAGTGAGTGGC	0.657		NaN											0	0	0	0.006122	0	16	78				
ZNF263	10127	broad.mit.edu	37	16	3339480	3339480	+	Missense_Mutation	SNP	G	G	A	rs79713839	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:3339480G>A	uc002cuq.2	+	6	1306	c.974G>A	c.(973-975)CGA>CAA	p.R325Q	ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GACCAGGCCCGAGGGGAGGTG	0.597		NaN											0	0	0	0.00632	0	26	111				
NAGPA	51172	broad.mit.edu	37	16	5077281	5077281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:5077281C>G	uc002cyg.2	-	8	1295	c.1274G>C	c.(1273-1275)AGA>ACA	p.R425T	NAGPA_uc010buc.2_Intron|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.R200T	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	425	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	ATAGGTACCTCTGGAGACGCT	0.607		NaN											0	0	0	0.001168	0	6	46				
TXNDC11	51061	broad.mit.edu	37	16	11792004	11792004	+	Missense_Mutation	SNP	C	C	T	rs143169078		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:11792004C>T	uc010buu.1	-	8	1227	c.1165G>A	c.(1165-1167)GAA>AAA	p.E389K	TXNDC11_uc002dbg.1_Missense_Mutation_p.E362K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	389					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						GGATGACTTTCGGCCAGGGGA	0.512		NaN											0	0	0	0.006122	0	15	89				
DNAH3	55567	broad.mit.edu	37	16	21063188	21063188	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21063188G>A	uc010vbe.1	-	29	4041	c.4041C>T	c.(4039-4041)GCC>GCT	p.A1347A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1347	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCACGTCGCGGGCTGTTGGGA	0.522		NaN											0	0	0	0.010504	0	20	44				
DNAH3	55567	broad.mit.edu	37	16	21086798	21086798	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21086798C>T	uc010vbe.1	-	21	3054	c.3054G>A	c.(3052-3054)GTG>GTA	p.V1018V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1018	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGCTGAACGTCACGTTAACCC	0.453		NaN											0	0	0	0.001855	0	12	58				
DNAH3	55567	broad.mit.edu	37	16	21132082	21132082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21132082C>T	uc010vbe.1	-	11	1678	c.1678G>A	c.(1678-1680)GCG>ACG	p.A560T	DNAH3_uc002die.2_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	560	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTGGCAGCCGCGTGCATGCTG	0.507		NaN											0	0	0	0.000602	0	5	25				
KIAA0556	23247	broad.mit.edu	37	16	27640096	27640096	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:27640096G>A	uc002dow.2	+	4	279	c.255G>A	c.(253-255)CGG>CGA	p.R85R		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	85										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CATCACCGCGGAAAGCTATTC	0.532		NaN											0	0	0	0.010729	0	12	97				
SRCAP	10847	broad.mit.edu	37	16	30721411	30721411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30721411G>A	uc002dze.1	+	8	1481	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E223K|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	366	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGATGGGCCTGAAGAAGGTGC	0.587		NaN											0	0	0	0.000602	0	5	21		Valid		
FBXL19	54620	broad.mit.edu	37	16	30941563	30941563	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30941563C>T	uc002eab.2	+	7	1177	c.1019C>T	c.(1018-1020)TCG>TTG	p.S340L	FBXL19_uc002dzz.1_Missense_Mutation_p.S28L|FBXL19_uc002eaa.1_Missense_Mutation_p.S239L	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	340	Ser-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						TCGGGCACATCGCTGAGTGAG	0.677		NaN											0	0	0	0.004482	0	7	41				
SETD1A	9739	broad.mit.edu	37	16	30991419	30991419	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30991419G>C	uc002ead.1	+	14	4998	c.4312G>C	c.(4312-4314)GAG>CAG	p.E1438Q		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1438	Interaction with CFP1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CCTGGACTCAGAGGACATGAG	0.458		NaN											0	0	0	0.004672	0	3	26				
N4BP1	9683	broad.mit.edu	37	16	48595890	48595890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:48595890C>T	uc002efp.2	-	2	901	c.664G>A	c.(664-666)GGG>AGG	p.G222R		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	222					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				ATATTCAGCCCTGTGGCAGCA	0.408		NaN											0	0	0	0.001984	0	7	32				
PDP2	57546	broad.mit.edu	37	16	66919264	66919264	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:66919264G>A	uc002eqk.1	+	2	1239	c.1077G>A	c.(1075-1077)TTG>TTA	p.L359L		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	359					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTAAAGAGTTGCAGCGCAGCA	0.557		NaN											0	0	0	0.009096	0	4	54				
FHOD1	29109	broad.mit.edu	37	16	67271177	67271177	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67271177C>T	uc002esl.2	-	9	1070	c.958G>A	c.(958-960)GAC>AAC	p.D320N	FHOD1_uc010ced.2_Missense_Mutation_p.D127N|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	320	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGGTCGACGTCAGTGCCCGCA	0.657		NaN											0	0	0	0.001368	0	12	37				
ATP6V0D1	9114	broad.mit.edu	37	16	67514862	67514862	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514862T>A	uc002ete.1	-	1	228	c.128A>T	c.(127-129)GAG>GTG	p.E43V	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E43V	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	43					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCTCACCCTCTAGCGTCTC	0.672		NaN											0	0	0	0.004007	0	13	38				
ATP6V0D1	9114	broad.mit.edu	37	16	67514906	67514906	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514906G>C	uc002ete.1	-	1	184	c.84C>G	c.(82-84)CTC>CTG	p.L28L	ATP6V0D1_uc010vjo.1_Silent_p.L28L	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	28					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCCTGGCTGAGCACCCCGG	0.652		NaN											0	0	0	0.007413	0	15	42				
HAS3	3038	broad.mit.edu	37	16	69143494	69143494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:69143494G>C	uc010cfh.2	+	2	420	c.196G>C	c.(196-198)GAG>CAG	p.E66Q	HAS3_uc002ewk.2_Missense_Mutation_p.E66Q|HAS3_uc010vlk.1_Missense_Mutation_p.E66Q|HAS3_uc002ewl.2_Missense_Mutation_p.E66Q	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	66	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCCTTCCTGGAGCACCGGCG	0.647		NaN											0	0	0	0.006214	0	8	32				
DDX19A	55308	broad.mit.edu	37	16	70400696	70400696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:70400696G>A	uc002eyv.2	+	9	1023	c.952G>A	c.(952-954)GAG>AAG	p.E318K	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.E319K|DDX19A_uc010cfq.1_Missense_Mutation_p.E73K|DDX19A_uc010cfr.2_Missense_Mutation_p.E168K|DDX19A_uc010cfs.2_Missense_Mutation_p.E141K|DDX19A_uc010vlz.1_Missense_Mutation_p.E287K|DDX19A_uc010vma.1_Missense_Mutation_p.E228K	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	318	Helicase C-terminal.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				CAGCAGAGACGAGAAGTTCCA	0.542		NaN											0	0	0	0.004007	0	16	79				
FOXL1	2300	broad.mit.edu	37	16	86612413	86612413	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:86612413C>G	uc002fjr.2	+	1	299	c.84C>G	c.(82-84)CTC>CTG	p.L28L		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	28					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						GACCCGGCCTCCCTCTGGCCT	0.692		NaN											0	0	0	0.010729	0	6	41				
KLHDC4	54758	broad.mit.edu	37	16	87744970	87744970	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:87744970C>T	uc002fki.2	-	9	961	c.915G>A	c.(913-915)CCG>CCA	p.P305P	KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Silent_p.P124P|KLHDC4_uc002fkj.2_Silent_p.P274P|KLHDC4_uc002fkk.2_Silent_p.P124P|KLHDC4_uc002fkl.2_Silent_p.P248P|KLHDC4_uc010chu.1_Silent_p.P124P	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	305										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTGGTGATTCGGGGCCATGG	0.567		NaN											0	0	0	0.010729	0	12	62				
FANCA	2175	broad.mit.edu	37	16	89862344	89862344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89862344G>A	uc002fou.1	-	11	1018	c.976C>T	c.(976-978)CAG>TAG	p.Q326*	FANCA_uc010vpn.1_Nonsense_Mutation_p.Q326*	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	326					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGAGTATCTGAGTCAGGGTA	0.512		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.006214	0	10	46				
TCF25	22980	broad.mit.edu	37	16	89940210	89940210	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89940210C>T	uc002fpb.2	+	1	217	c.135C>T	c.(133-135)GTC>GTT	p.V45V	TCF25_uc010vpp.1_Silent_p.V45V	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	45					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCTTGGTGTCCGGCGTCCCG	0.701		NaN											0	0	0	0.009096	0	4	12				
FAM101B	359845	broad.mit.edu	37	17	293277	293277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:293277G>A	uc002frj.2	-	2	387	c.113C>T	c.(112-114)TCC>TTC	p.S38F		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	108											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CTTGACCAAGGAGGTGTACCT	0.657		NaN											0	0	0	0.008291	0	10	48				
SCARF1	8578	broad.mit.edu	37	17	1548932	1548932	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:1548932G>A	uc002fsz.1	-	1	110	c.60C>T	c.(58-60)TCC>TCT	p.S20S	SCARF1_uc002fsy.1_Silent_p.S20S|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.S20S	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	20	Extracellular (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCCAGCTCGGACCCCTGAG	0.687		NaN											0	0	0	0.009096	0	3	3				
OR3A1	4994	broad.mit.edu	37	17	3195373	3195373	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:3195373C>T	uc002fvh.1	-	1	504	c.504G>A	c.(502-504)ACG>ACA	p.T168T		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						AGAAGTTGAGCGTGGACATGG	0.567		NaN											0	0	0	0.00361	0	44	74				
CAMTA2	23125	broad.mit.edu	37	17	4877755	4877755	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:4877755C>G	uc002gah.1	-	12	2049	c.1941G>C	c.(1939-1941)CAG>CAC	p.Q647H	CAMTA2_uc010cku.1_Missense_Mutation_p.Q670H|CAMTA2_uc002gag.1_Missense_Mutation_p.Q646H|CAMTA2_uc002gai.1_Missense_Mutation_p.Q649H|CAMTA2_uc010ckv.1_Missense_Mutation_p.Q294H	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	647					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GCTTCTCCATCTGCTCCAGTC	0.587		NaN											0	0	0	0.006214	0	10	48				
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578419C>T	uc002gim.2	-	5	705	c.511G>A	c.(511-513)GAG>AAG	p.E171K	TP53_uc002gig.1_Missense_Mutation_p.E171K|TP53_uc002gih.2_Missense_Mutation_p.E171K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E39K|TP53_uc010cng.1_Missense_Mutation_p.E39K|TP53_uc002gii.1_Missense_Mutation_p.E39K|TP53_uc010cnh.1_Missense_Mutation_p.E171K|TP53_uc010cni.1_Missense_Mutation_p.E171K|TP53_uc002gij.2_Missense_Mutation_p.E171K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E78K|TP53_uc002gio.2_Missense_Mutation_p.E39K|TP53_uc010vug.1_Missense_Mutation_p.E132K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	171	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00278	0	22	36		Valid		
TP53	7157	broad.mit.edu	37	17	7578493	7578493	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578493C>G	uc002gim.2	-	5	631	c.437G>C	c.(436-438)TGG>TCG	p.W146S	TP53_uc002gig.1_Missense_Mutation_p.W146S|TP53_uc002gih.2_Missense_Mutation_p.W146S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.W14S|TP53_uc010cng.1_Missense_Mutation_p.W14S|TP53_uc002gii.1_Missense_Mutation_p.W14S|TP53_uc010cnh.1_Missense_Mutation_p.W146S|TP53_uc010cni.1_Missense_Mutation_p.W146S|TP53_uc002gij.2_Missense_Mutation_p.W146S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.W53S|TP53_uc002gio.2_Missense_Mutation_p.W14S|TP53_uc010vug.1_Missense_Mutation_p.W107S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	146	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		W -> S (in sporadic cancers; somatic mutation).|W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W146*(61)|p.0?(7)|p.W146R(5)|p.W146C(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.W146_S149>C(1)|p.W146fs*25(1)|p.W146S(1)|p.Q144fs*32(1)|p.W146fs*1(1)|p.W146_V147insXXXXXXX(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W146G(1)|p.V143_S149del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAATCAACCCACAGCTGCAC	0.602		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006122	0	17	25		Valid		
MYH8	4626	broad.mit.edu	37	17	10310054	10310054	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10310054A>C	uc002gmm.2	-	19	2219	c.2124T>G	c.(2122-2124)TGT>TGG	p.C708W	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	708	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						ATCCTTTCCTACAGATGCGGA	0.378		NaN							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				0	0	0	0.002299	0	22	69				
MYH1	4619	broad.mit.edu	37	17	10399384	10399384	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10399384C>T	uc002gmo.2	-	35	5146	c.5052G>A	c.(5050-5052)CTG>CTA	p.L1684L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1684	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CAGCCTGCAGCAGGTTGGCTC	0.592		NaN											0	0	0	0.004007	0	16	45				
DNAH9	1770	broad.mit.edu	37	17	11656266	11656266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:11656266G>A	uc002gne.2	+	33	6795	c.6727G>A	c.(6727-6729)GAT>AAT	p.D2243N	DNAH9_uc010coo.2_Missense_Mutation_p.D1537N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2243	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGTCATGGATGATAACAA	0.453		NaN											0	0	0	0.006122	0	18	36				
RICH2	9912	broad.mit.edu	37	17	12823090	12823090	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:12823090C>G	uc002gnr.3	+	6	733	c.406C>G	c.(406-408)CAA>GAA	p.Q136E	RICH2_uc010vvk.1_Missense_Mutation_p.Q136E|RICH2_uc010vvl.1_Missense_Mutation_p.Q136E|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.Q136E|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	136	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						CCCAAATATTCAAAAGCAGAG	0.353		NaN											0	0	0	0.001984	0	7	14				
ZNF287	57336	broad.mit.edu	37	17	16466491	16466491	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:16466491C>G	uc002gqi.2	-	5	1137	c.684G>C	c.(682-684)GTG>GTC	p.V228V		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	221	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCTTTTATCACCATCCATG	0.373		NaN											0	0	0	0.00245	0	11	51				
NOS2	4843	broad.mit.edu	37	17	26101427	26101427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26101427C>A	uc002gzu.2	-	12	1596	c.1332G>T	c.(1330-1332)ATG>ATT	p.M444I	NOS2_uc010crh.1_Missense_Mutation_p.M444I|NOS2_uc010wab.1_Missense_Mutation_p.M444I	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	444					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCATGTACTTCATGAAGGATT	0.557		NaN											1	0	3.07112e-06	0.010729	3.20101e-06	10	62				
KIAA0100	9703	broad.mit.edu	37	17	26945944	26945944	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26945944C>A	uc002hbu.2	-	32	5787	c.5688G>T	c.(5686-5688)CTG>CTT	p.L1896L	KIAA0100_uc002hbt.2_Silent_p.L225L	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1896						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCTGCTTTCGCAGCTCCATCT	0.532		NaN											1	0	3.86212e-05	0.008291	3.98335e-05	10	36				
PROCA1	147011	broad.mit.edu	37	17	27030605	27030605	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:27030605G>T	uc002hcb.3	-	5	1191	c.988C>A	c.(988-990)CCC>ACC	p.P330T	PROCA1_uc010crv.2_Missense_Mutation_p.P256T|PROCA1_uc002hca.1_Missense_Mutation_p.P328T	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	356					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					GATCCTGGGGGAGATTTTCTC	0.547		NaN											1	0	1.55795e-14	0.012319	1.66406e-14	22	127				
RAD51L3	5892	broad.mit.edu	37	17	33428002	33428002	+	Missense_Mutation	SNP	C	C	G	rs147669627		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:33428002C>G	uc002hir.2	-	10	1213	c.957G>C	c.(955-957)CAG>CAC	p.Q319H	RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_Missense_Mutation_p.E138Q|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q339H|RAD51L3_uc002his.2_Missense_Mutation_p.Q207H|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q200H|RAD51L3_uc010wce.1_Missense_Mutation_p.Q200H|RAD51L3_uc002hit.2_Missense_Mutation_p.Q200H|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q142H	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	319					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATGTGGCACTCTGCTCTGAGG	0.527		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.007291	0	27	46				
GRB7	2886	broad.mit.edu	37	17	37901554	37901554	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:37901554C>G	uc002hsr.2	+	10	1320	c.1070C>G	c.(1069-1071)TCT>TGT	p.S357C	GRB7_uc002hss.2_Missense_Mutation_p.S357C|GRB7_uc010cwc.2_Missense_Mutation_p.S357C|GRB7_uc002hst.2_Missense_Mutation_p.S357C	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	357					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCATCCATCTTGTTTGGGC	0.597		NaN											0	0	0	0.003163	0	13	34				
PSMD3	5709	broad.mit.edu	37	17	38140722	38140722	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38140722C>T	uc002htn.1	+	2	560	c.396C>T	c.(394-396)CTC>CTT	p.L132L	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.L33L	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					ACTTTTTGCTCCCCTTCCTGG	0.517		NaN											0	0	0	0.008291	0	8	59				
CDC6	990	broad.mit.edu	37	17	38447912	38447912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38447912G>C	uc002huj.1	+	4	862	c.652G>C	c.(652-654)GAC>CAC	p.D218H		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	218					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						GATTCTGCAAGACCTCAAGGT	0.348		NaN											0	0	0	0.010504	0	20	38				
KAT2A	2648	broad.mit.edu	37	17	40265686	40265686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40265686C>G	uc002hyx.2	-	18	2555	c.2495G>C	c.(2494-2496)GGA>GCA	p.G832A	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	832					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						AATGAGGCCTCCCTCCTTGAG	0.607		NaN											0	0	0	0.006214	0	8	48				
PTRF	284119	broad.mit.edu	37	17	40556890	40556890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40556890C>T	uc002hzo.2	-	2	1147	c.988G>A	c.(988-990)GAG>AAG	p.E330K	PTRF_uc010wgi.1_Missense_Mutation_p.E312K	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	330					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		ACCTGGCCCTCGCGGATCTTC	0.687		NaN											0	0	0	0.003163	0	15	46				
DHX8	1659	broad.mit.edu	37	17	41599484	41599484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:41599484C>G	uc002idu.1	+	22	3406	c.3333C>G	c.(3331-3333)TTC>TTG	p.F1111L	DHX8_uc010wig.1_Missense_Mutation_p.F1111L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGTGGGTTCTTCCGTAATG	0.517		NaN											0	0	0	0.00361	0	82	52				
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:43323891C>T	uc002iin.2	+	26	3431	c.3231C>T	c.(3229-3231)TTC>TTT	p.F1077F	FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						CGGTGCCCTTCACGGCCCGCA	0.582		NaN									OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	18	42				
PNPO	55163	broad.mit.edu	37	17	46023710	46023710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:46023710G>A	uc002imo.2	+	6	721	c.568G>A	c.(568-570)GAA>AAA	p.E190K	PNPO_uc010wkz.1_Missense_Mutation_p.E172K|PNPO_uc010wla.1_Missense_Mutation_p.E95K|PNPO_uc010wlb.1_Missense_Mutation_p.E147K	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	pyridoxine 5'-phosphate oxidase	190					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity				0					Pyridoxal Phosphate(DB00114)	GAAAAATGAGGAACTGGAACA	0.493		NaN											0	0	0	0.009096	0	3	34				
UBE2Z	65264	broad.mit.edu	37	17	47004453	47004453	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:47004453C>T	uc002ioi.2	+	7	1121	c.1022C>T	c.(1021-1023)TCA>TTA	p.S341L		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	341					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity				0						GATAGCAGTTCATCTGGGACA	0.537		NaN											0	0	0	0.000602	0	4	29				
ABCC3	8714	broad.mit.edu	37	17	48745049	48745049	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:48745049C>G	uc002isl.2	+	12	1646	c.1566C>G	c.(1564-1566)CTC>CTG	p.L522L	ABCC3_uc002isk.3_Silent_p.L522L	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	522	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGGGTGAGCTCCAGCTGCTGC	0.632		NaN											0	0	0	0.001168	0	5	46				
MBTD1	54799	broad.mit.edu	37	17	49280217	49280217	+	Missense_Mutation	SNP	C	C	T	rs147550029		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:49280217C>T	uc002itr.3	-	10	1252	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	MBTD1_uc002itp.3_Missense_Mutation_p.R139Q|MBTD1_uc002itq.3_Missense_Mutation_p.R303Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	303	MBT 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CACTGCTACTCGTGTTCGACA	0.408		NaN											0	0	0	0.005524	0	37	185				
TRIM37	4591	broad.mit.edu	37	17	57089713	57089713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:57089713C>A	uc002iwy.3	-	22	3115	c.2671G>T	c.(2671-2673)GGA>TGA	p.G891*	TRIM37_uc002iwz.3_Nonsense_Mutation_p.G891*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.G769*|TRIM37_uc010woc.1_Nonsense_Mutation_p.G857*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	891						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGAAGCTCCTTCAGGTAGT	0.368		NaN							Mulibrey_Nanism				1	0	3.45872e-05	0.004007	3.57798e-05	13	75				
KPNA2	3838	broad.mit.edu	37	17	66042657	66042657	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042657C>G	uc002jgk.2	+	11	1667	c.1535C>G	c.(1534-1536)TCT>TGT	p.S512C	KPNA2_uc002jgl.2_Missense_Mutation_p.S512C	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	512					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAACTACCTCTGAAGGCTAC	0.368		NaN											0	0	0	0.008291	0	9	71				
KPNA2	3838	broad.mit.edu	37	17	66042674	66042674	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042674C>A	uc002jgk.2	+	11	1684	c.1552C>A	c.(1552-1554)CAA>AAA	p.Q518K	KPNA2_uc002jgl.2_Missense_Mutation_p.Q518K	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	518					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACACTTTCCAAGTTCAGGA	0.338		NaN											1	0	7.03913e-09	0.001368	7.44938e-09	12	78				
KCNJ16	3773	broad.mit.edu	37	17	68128891	68128891	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68128891C>G	uc002jin.2	+	5	1149	c.663C>G	c.(661-663)CTC>CTG	p.L221L	KCNJ16_uc002jio.2_Silent_p.L221L|KCNJ16_uc002jip.2_Silent_p.L221L|KCNJ16_uc002jiq.2_Silent_p.L253L	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	221	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CCCAACTTCTCCGCTATACAG	0.473		NaN											0	0	0	0.006214	0	9	51				
KCNJ16	3773	broad.mit.edu	37	17	68129403	68129403	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68129403C>T	uc002jin.2	+	5	1661	c.1175C>T	c.(1174-1176)TCC>TTC	p.S392F	KCNJ16_uc002jio.2_Missense_Mutation_p.S392F|KCNJ16_uc002jip.2_Missense_Mutation_p.S392F|KCNJ16_uc002jiq.2_Missense_Mutation_p.S424F	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	392	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					ACCACCACTTCCGCCACACAT	0.458		NaN											0	0	0	0.001168	0	5	55				
NUP85	79902	broad.mit.edu	37	17	73205991	73205991	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73205991C>T	uc002jng.1	+	3	461	c.201C>T	c.(199-201)ATC>ATT	p.I67I	NUP85_uc010dgd.1_Silent_p.I67I|NUP85_uc010wrv.1_Silent_p.I21I	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	67					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ACTCTCAAATCTTGAGAAAAC	0.368		NaN											0	0	0	0.008291	0	9	69				
LLGL2	3993	broad.mit.edu	37	17	73554290	73554290	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73554290G>A	uc002joh.2	+	4	382	c.228G>A	c.(226-228)GTG>GTA	p.V76V	LLGL2_uc002jog.1_Silent_p.V76V|LLGL2_uc010dgf.1_Silent_p.V76V|LLGL2_uc002joi.2_Silent_p.V76V|LLGL2_uc010dgg.1_Silent_p.V76V|LLGL2_uc002joj.2_Silent_p.V65V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	76	WD 2.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACAACGCTGTGACGCAGATCC	0.632		NaN											0	0	0	0.008871	0	18	123				
RECQL5	9400	broad.mit.edu	37	17	73623508	73623508	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623508C>G	uc010dgl.2	-	20	3126	c.2970G>C	c.(2968-2970)CAG>CAC	p.Q990H	RECQL5_uc010dgk.2_Missense_Mutation_p.Q963H|RECQL5_uc002jot.3_Missense_Mutation_p.Q186H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	990					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTGGTCATCTCTGGGGGCCAC	0.622		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.007413	0	18	118				
RECQL5	9400	broad.mit.edu	37	17	73623520	73623520	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623520C>T	uc010dgl.2	-	20	3114	c.2958G>A	c.(2956-2958)CTG>CTA	p.L986L	RECQL5_uc010dgk.2_Silent_p.L959L|RECQL5_uc002jot.3_Silent_p.L182L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	986					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGGCCACACAGGCCATGCC	0.632		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.012319	0	21	126				
RECQL5	9400	broad.mit.edu	37	17	73624402	73624402	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624402C>G	uc010dgl.2	-	18	2857	c.2701G>C	c.(2701-2703)GAC>CAC	p.D901H	RECQL5_uc010dgk.2_Missense_Mutation_p.D874H|RECQL5_uc002jot.3_Missense_Mutation_p.D97H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	901					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGAAGGGGTCTTGAGCCGTG	0.602		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.00499	0	16	103				
RECQL5	9400	broad.mit.edu	37	17	73624837	73624837	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624837C>T	uc010dgl.2	-	17	2651	c.2495G>A	c.(2494-2496)TGC>TAC	p.C832Y	RECQL5_uc010dgk.2_Missense_Mutation_p.C805Y|RECQL5_uc002jot.3_Missense_Mutation_p.C28Y	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	832					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTGGGCGGGCAGGTGCTGGT	0.652		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.00308	0	7	42				
RECQL5	9400	broad.mit.edu	37	17	73625129	73625129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73625129C>T	uc010dgl.2	-	16	2530	c.2374G>A	c.(2374-2376)GAG>AAG	p.E792K	RECQL5_uc010dgk.2_Missense_Mutation_p.E765K|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	792					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAACCCCCTCACAGGAGGGG	0.642		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.001168	0	6	53				
GALR2	8811	broad.mit.edu	37	17	74071212	74071212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74071212C>T	uc002jqm.1	+	1	329	c.248C>T	c.(247-249)GCC>GTC	p.A83V	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	83	Extracellular (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCCTTCCAGGCCACCATCTAC	0.632		NaN											0	0	0	0.010729	0	11	77				
MGAT5B	146664	broad.mit.edu	37	17	74901357	74901357	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74901357C>T	uc002jti.2	+	6	933	c.830C>T	c.(829-831)GCG>GTG	p.A277V	MGAT5B_uc002jth.2_Missense_Mutation_p.A266V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	266	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GCCCAGTGGGCGCTGGCTGCC	0.642		NaN											0	0	0	0.010729	0	9	37				
AZI1	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:79165000C>T	uc002jzp.1	-	22	2967	c.2767G>A	c.(2767-2769)GAG>AAG	p.E923K	AZI1_uc002jzm.1_Missense_Mutation_p.E355K|AZI1_uc002jzn.1_Missense_Mutation_p.E920K|AZI1_uc002jzo.1_Missense_Mutation_p.E884K|AZI1_uc010wum.1_Missense_Mutation_p.E887K|AZI1_uc002jzq.2_Missense_Mutation_p.E71K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	923					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652		NaN											0	0	0	0.010504	0	20	66				
C17orf62	79415	broad.mit.edu	37	17	80401915	80401915	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80401915C>T	uc002kez.2	-	6	577	c.529G>A	c.(529-531)GAC>AAC	p.D177N	C17orf62_uc002kex.2_Silent_p.A28A|C17orf62_uc002key.2_Silent_p.A28A|C17orf62_uc002kfa.2_Missense_Mutation_p.D177N|C17orf62_uc010dir.2_Missense_Mutation_p.D177N|C17orf62_uc002kfb.3_Missense_Mutation_p.D177N|C17orf62_uc002kfc.3_Missense_Mutation_p.D163N|C17orf62_uc002kfd.3_Silent_p.A28A|C17orf62_uc002kfe.3_Silent_p.A28A	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	177						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTCACTGTCGCTGCTCTGA	0.652		NaN											0	0	0	0.008871	0	19	135				
FN3K	64122	broad.mit.edu	37	17	80708353	80708353	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80708353C>G	uc010wvs.1	+	6	713	c.652C>G	c.(652-654)CTC>GTC	p.L218V	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	218					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCACGGGGATCTCTGGTCGGG	0.567		NaN											0	0	0	0.003163	0	16	118				
EMILIN2	84034	broad.mit.edu	37	18	2892402	2892402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:2892402G>C	uc002kln.2	+	4	2436	c.2277G>C	c.(2275-2277)AAG>AAC	p.K759N		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	759					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		CTGGCCTGAAGAATTCAGTCC	0.468		NaN											0	0	0	0.001855	0	14	48				
LAMA1	284217	broad.mit.edu	37	18	7024444	7024444	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:7024444G>C	uc002knm.2	-	18	2518	c.2424C>G	c.(2422-2424)CTC>CTG	p.L808L	LAMA1_uc010wzj.1_Silent_p.L284L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	808	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCATCATTGAGGTGGCAGG	0.438		NaN											0	0	0	0.009096	0	3	17				
MOCOS	55034	broad.mit.edu	37	18	33780103	33780103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:33780103C>T	uc002kzq.3	+	4	780	c.757C>T	c.(757-759)CAC>TAC	p.H253Y		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	253					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CCTGTCAGCTCACCAGGCCGA	0.587		NaN											0	0	0	0.004007	0	14	37				
C18orf22	79863	broad.mit.edu	37	18	77794586	77794586	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:77794586G>A	uc002lns.2	+	1	229	c.91G>A	c.(91-93)GAG>AAG	p.E31K	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.E31K|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	31					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		TCCAGGCTGCGAGCGGGGACT	0.682		NaN											0	0	0	0.010729	0	11	17				
RPS15	6209	broad.mit.edu	37	19	1440120	1440120	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:1440120G>A	uc002lsp.1	+	3	254	c.192G>A	c.(190-192)AAG>AAA	p.K64K	RPS15_uc002lsq.1_Silent_p.K71K	NM_001018	NP_001009	P62841	RS15_HUMAN	ribosomal protein S15	64					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAAGAAGGAGGCGC	0.662		NaN											0	0	0	0.004672	0	3	12				
DOT1L	84444	broad.mit.edu	37	19	2210632	2210632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210632G>T	uc002lvb.3	+	14	1165	c.1129G>T	c.(1129-1131)GAG>TAG	p.E377*	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	377						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGTGCTGAGGAAGAGAA	0.632		NaN											1	0	8.34094e-07	0.008871	8.7333e-07	19	148		Valid		
DOT1L	84444	broad.mit.edu	37	19	2210638	2210638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210638G>A	uc002lvb.3	+	14	1171	c.1135G>A	c.(1135-1137)GAG>AAG	p.E379K	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	379						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGAGGAAGAGAAGGCGGG	0.642		NaN											0	0	0	0.010504	0	20	151		Valid		
DOT1L	84444	broad.mit.edu	37	19	2210754	2210754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210754G>A	uc002lvb.3	+	14	1287	c.1251G>A	c.(1249-1251)ATG>ATA	p.M417I	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	417						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAAGATGAACACTGCGA	0.617		NaN											0	0	0	0.006214	0	10	66		Valid		
DOT1L	84444	broad.mit.edu	37	19	2213597	2213597	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213597G>A	uc002lvb.3	+	17	1653	c.1617G>A	c.(1615-1617)CAG>CAA	p.Q539Q	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	539						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGCCCAGAAGGAGGAGA	0.632		NaN											0	0	0	0.001984	0	6	51				
DOT1L	84444	broad.mit.edu	37	19	2213856	2213856	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213856G>A	uc002lvb.3	+	18	1704	c.1668G>A	c.(1666-1668)GTG>GTA	p.V556V	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	556						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGGTGTGAAGGCGCTGA	0.642		NaN											0	0	0	0.00308	0	8	66				
DOT1L	84444	broad.mit.edu	37	19	2216484	2216484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216484G>A	uc002lvb.3	+	20	2164	c.2128G>A	c.(2128-2130)GAG>AAG	p.E710K	DOT1L_uc002lvc.1_Missense_Mutation_p.E4K|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E4K	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	710						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGAGCCCGGAGCTCTCCAT	0.672		NaN											0	0	0	0.001368	0	12	47		Valid		
DOT1L	84444	broad.mit.edu	37	19	2216699	2216699	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216699G>A	uc002lvb.3	+	20	2379	c.2343G>A	c.(2341-2343)CTG>CTA	p.L781L	DOT1L_uc002lvc.1_Silent_p.L75L|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.L75L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	781						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATTGTGCTGAGGCGGCACC	0.692		NaN											0	0	0	0.00308	0	7	61				
ZBTB7A	51341	broad.mit.edu	37	19	4048050	4048050	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:4048050G>A	uc002lzh.2	-	3	1530	c.1455C>T	c.(1453-1455)CTC>CTT	p.L485L	ZBTB7A_uc002lzi.2_Silent_p.L485L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	485	C2H2-type 4; atypical.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCTTTCTTGAGGTGTCTGT	0.408		NaN											0	0	0	0.001984	0	6	23				
KIAA1543	57662	broad.mit.edu	37	19	7676406	7676406	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676406C>T	uc002mgv.3	+	10	1228	c.1127C>T	c.(1126-1128)TCC>TTC	p.S376F	KIAA1543_uc002mgu.3_Missense_Mutation_p.S403F	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	376					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CCCCCAGGCTCCCTGAAGTCT	0.632		NaN											0	0	0	0.004672	0	3	5				
KIAA1543	57662	broad.mit.edu	37	19	7676584	7676584	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676584C>G	uc002mgv.3	+	11	1306	c.1205C>G	c.(1204-1206)TCC>TGC	p.S402C	KIAA1543_uc002mgu.3_Missense_Mutation_p.S429C|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	402					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CGTCCCCTCTCCCAGGCTGTG	0.692		NaN											0	0	0	0.004672	0	3	10				
MUC16	94025	broad.mit.edu	37	19	9075858	9075858	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:9075858C>G	uc002mkp.2	-	3	11792	c.11588G>C	c.(11587-11589)AGA>ACA	p.R3863T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3864	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGATGTAGCTCTTGCCTCTGT	0.453		NaN											0	0	0	0.006214	0	10	33				
TYK2	7297	broad.mit.edu	37	19	10478793	10478793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:10478793C>G	uc002moc.3	-	5	781	c.403G>C	c.(403-405)GAT>CAT	p.D135H	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Missense_Mutation_p.D135H	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	135	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGTCTGATCTGAGGATGCC	0.567		NaN											0	0	0	0.006214	0	9	27				
DOCK6	57572	broad.mit.edu	37	19	11343960	11343960	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:11343960C>G	uc002mqs.3	-	22	2678	c.2637G>C	c.(2635-2637)AAG>AAC	p.K879N	DOCK6_uc010xlq.1_Missense_Mutation_p.K183N	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	879					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGCTGATGCTCTTGGAACGCG	0.657		NaN											0	0	0	0.003163	0	12	23				
CCDC130	81576	broad.mit.edu	37	19	13873412	13873412	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:13873412G>A	uc002mxb.1	+	11	1224	c.721G>A	c.(721-723)GAC>AAC	p.D241N	CCDC130_uc002mxc.1_Missense_Mutation_p.D241N|CCDC130_uc002mxd.1_Missense_Mutation_p.D96N|CCDC130_uc010dzf.1_Missense_Mutation_p.D135N|MRI1_uc002mxe.2_5'Flank|MRI1_uc002mxf.2_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	241					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGCCTACGAGGACAAGCAGAA	0.622		NaN											0	0	0	0.004672	0	3	25				
AKAP8L	26993	broad.mit.edu	37	19	15510131	15510131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15510131C>T	uc002naw.1	-	9	1238	c.1139G>A	c.(1138-1140)CGA>CAA	p.R380Q	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R319Q	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	380						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CATGCGGTCTCGCTGCCGCTT	0.617		NaN											0	0	0	0.001368	0	9	42				
OR10H1	26539	broad.mit.edu	37	19	15918161	15918161	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15918161G>C	uc002nbq.2	-	1	776	c.687C>G	c.(685-687)ATC>ATG	p.I229M		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGCAGAAGGGATCTTCAAGA	0.567		NaN											0	0	0	0.006214	0	9	51				
NWD1	284434	broad.mit.edu	37	19	16860125	16860125	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:16860125C>T	uc002neu.3	+	6	1094	c.672C>T	c.(670-672)CTC>CTT	p.L224L	NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	224							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						AGAACCTTCTCAGCAGCCTCA	0.587		NaN											0	0	0	0.008871	0	21	57				
MYO9B	4650	broad.mit.edu	37	19	17311468	17311468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:17311468C>T	uc010eak.2	+	26	4545	c.4393C>T	c.(4393-4395)CGC>TGC	p.R1465C	MYO9B_uc002nfi.2_Missense_Mutation_p.R1465C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1465C|MYO9B_uc002nfl.1_Missense_Mutation_p.R14C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1465	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						ACAGCAGCATCGCCACGCTGC	0.602		NaN											0	0	0	0.001168	0	6	15				
COMP	1311	broad.mit.edu	37	19	18896563	18896563	+	Missense_Mutation	SNP	C	C	T	rs145034923		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:18896563C>T	uc002nke.2	-	14	1624	c.1588G>A	c.(1588-1590)GAC>AAC	p.D530N	COMP_uc002nkd.2_Missense_Mutation_p.D497N|COMP_uc010xqj.1_Missense_Mutation_p.D477N	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	530	Mediates cell survival and induction of the IAP family of survival proteins.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GCCCTGAAGTCGGTGAGCGTG	0.627		NaN											0	0	0	0.006122	0	16	29				
ZNF681	148213	broad.mit.edu	37	19	23926476	23926476	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926476C>T	uc002nrk.3	-	4	2018	c.1876G>A	c.(1876-1878)GAT>AAT	p.D626N	ZNF681_uc002nrl.3_Missense_Mutation_p.D557N|ZNF681_uc002nrj.3_Missense_Mutation_p.D557N	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTCAAAATCACTGTTACAT	0.308		NaN											0	0	0	0.00308	0	7	8				
ZNF681	148213	broad.mit.edu	37	19	23926861	23926861	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926861C>G	uc002nrk.3	-	4	1633	c.1491G>C	c.(1489-1491)AAG>AAC	p.K497N	ZNF681_uc002nrl.3_Missense_Mutation_p.K428N|ZNF681_uc002nrj.3_Missense_Mutation_p.K428N	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	497	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTCTTATGTGTAG	0.358		NaN											0	0	0	0.008871	0	20	55				
ZNF681	148213	broad.mit.edu	37	19	23927978	23927978	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23927978C>G	uc002nrk.3	-	4	516	c.374G>C	c.(373-375)GGA>GCA	p.G125A	ZNF681_uc002nrl.3_Missense_Mutation_p.G56A|ZNF681_uc002nrj.3_Missense_Mutation_p.G56A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTATAACCTCCTTTTTGCAC	0.294		NaN											0	0	0	0.001984	0	7	24				
ZNF536	9745	broad.mit.edu	37	19	31039228	31039228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:31039228G>A	uc002nsu.1	+	4	2840	c.2702G>A	c.(2701-2703)GGA>GAA	p.G901E	ZNF536_uc010edd.1_Missense_Mutation_p.G901E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	901					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCTGAGATCGGAAGAGCTTAT	0.512		NaN											0	0	0	0.012213	0	33	202				
ANKRD27	84079	broad.mit.edu	37	19	33089074	33089074	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:33089074C>G	uc002ntn.1	-	29	3286	c.3130G>C	c.(3130-3132)GAG>CAG	p.E1044Q		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1044					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GCACTAACCTCTTGGGGAGTG	0.587		NaN											0	0	0	0.00361	0	42	58				
MLL4	9757	broad.mit.edu	37	19	36218436	36218436	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36218436G>C	uc010eei.2	+	17	4215	c.4215G>C	c.(4213-4215)CTG>CTC	p.L1405L		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1405					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGGCCCTGAGCGGGGCCC	0.687		NaN											0	0	0	0.004007	0	16	118				
NPHS1	4868	broad.mit.edu	37	19	36322010	36322010	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36322010C>T	uc002oby.2	-	27	3426	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	NPHS1_uc010eem.1_RNA	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1142	Cytoplasmic (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587		NaN											0	0	0	0.003163	0	15	145				
ZNF567	163081	broad.mit.edu	37	19	37211048	37211048	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:37211048G>A	uc010xtl.1	+	6	1644	c.1422G>A	c.(1420-1422)GAG>GAA	p.E474E	ZNF567_uc002oeo.1_Silent_p.E474E|ZNF567_uc010xtk.1_Silent_p.E474E|ZNF567_uc002oep.3_Silent_p.E443E|ZNF567_uc002oeq.1_Silent_p.E443E	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATACAGGGGAGAAATCTTATG	0.418		NaN											0	0	0	0.004878	0	36	51				
RYR1	6261	broad.mit.edu	37	19	38976369	38976369	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:38976369C>G	uc002oit.2	+	34	5204	c.5074C>G	c.(5074-5076)CAG>GAG	p.Q1692E	RYR1_uc002oiu.2_Missense_Mutation_p.Q1692E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1692	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACCAAGCTCAGCTGCTGCA	0.667		NaN											0	0	0	0.00874	0	39	81				
ACTN4	81	broad.mit.edu	37	19	39219769	39219769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39219769C>T	uc002oja.1	+	20	2611	c.2552C>T	c.(2551-2553)TCC>TTC	p.S851F	ACTN4_uc002ojb.1_Missense_Mutation_p.S173F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	851					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCATCGCTTCCTTCAAGGTC	0.637		NaN											0	0	0	0.010729	0	10	89				
RINL	126432	broad.mit.edu	37	19	39361468	39361468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361468C>A	uc002ojq.2	-	8	812	c.424G>T	c.(424-426)GAG>TAG	p.E142*	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Nonsense_Mutation_p.E256*	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	142							GTPase activator activity			pancreas(1)	1						AGCACGTCCTCAGGGCCTTCC	0.622		NaN											1	0	1.17673e-23	0.00361	1.26078e-23	53	61				
RINL	126432	broad.mit.edu	37	19	39361736	39361736	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361736C>T	uc002ojq.2	-	7	629	c.241G>A	c.(241-243)GCT>ACT	p.A81T	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.A195T	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	81							GTPase activator activity			pancreas(1)	1						TGTCTCTGAGCAGCCTCTGGC	0.622		NaN											0	0	0	0.00361	0	62	94				
FBXO27	126433	broad.mit.edu	37	19	39521863	39521863	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39521863G>A	uc002okh.2	-	3	544	c.462C>T	c.(460-462)TTC>TTT	p.F154F		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	154	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGAAGTCACGAAGCACGTCT	0.582		NaN											0	0	0	0.010504	0	19	140				
PRX	57716	broad.mit.edu	37	19	40902869	40902869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:40902869G>A	uc002onr.2	-	7	1659	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*	PRX_uc002onq.2_Nonsense_Mutation_p.R325*|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	464	5.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGGAGTCGAACCTCTGGA	0.612		NaN											0	0	0	0.00361	0	70	145				
ADCK4	79934	broad.mit.edu	37	19	41209631	41209631	+	Missense_Mutation	SNP	C	C	T	rs146225943	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:41209631C>T	uc002oor.2	-	8	1008	c.706G>A	c.(706-708)GTG>ATG	p.V236M	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.V195M	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	236	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGGATCTTCACGGCCACCTCC	0.522		NaN											0	0	0	0.001168	0	6	70				
TMEM145	284339	broad.mit.edu	37	19	42819374	42819374	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:42819374C>G	uc002otk.1	+	7	592	c.540C>G	c.(538-540)ATC>ATG	p.I180M		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	180	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				tcctcctcatcttcatcctca	0.463		NaN											0	0	0	0.00245	0	15	75				
C19orf61	56006	broad.mit.edu	37	19	44235749	44235749	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:44235749C>G	uc002oxj.2	-	14	1905	c.1562G>C	c.(1561-1563)TGA>TCA	p.*521S		NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	521					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				TCCTTGGCCTCAGGCCAGCAG	0.637		NaN											0	0	0	0.001368	0	12	70				
SYMPK	8189	broad.mit.edu	37	19	46330779	46330779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:46330779C>T	uc002pdn.2	-	16	2415	c.2170G>A	c.(2170-2172)GAG>AAG	p.E724K	SYMPK_uc002pdo.1_Missense_Mutation_p.E724K|SYMPK_uc002pdp.1_Missense_Mutation_p.E724K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	724					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGTCCTTCTCATGGGAGCTG	0.597		NaN											0	0	0	0.001855	0	13	32				
PRKD2	25865	broad.mit.edu	37	19	47207801	47207801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47207801G>A	uc002pfh.2	-	5	959	c.617C>T	c.(616-618)TCG>TTG	p.S206L	PRKD2_uc002pfg.2_Missense_Mutation_p.S49L|PRKD2_uc002pfi.2_Missense_Mutation_p.S206L|PRKD2_uc002pfj.2_Missense_Mutation_p.S206L|PRKD2_uc010xye.1_Missense_Mutation_p.S206L|PRKD2_uc002pfk.2_Missense_Mutation_p.S49L	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	206					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGCGCACCGAGTGGCCACT	0.657		NaN									OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	24	55				
GRLF1	2909	broad.mit.edu	37	19	47425167	47425167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47425167C>T	uc010ekv.2	+	1	3235	c.3235C>T	c.(3235-3237)CAG>TAG	p.Q1079*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1079					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CTGGCTGCCTCAGGATGGGTT	0.478		NaN											0	0	0	0.00632	0	28	24				
DHX34	9704	broad.mit.edu	37	19	47856690	47856690	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47856690C>G	uc010xyn.1	+	2	744	c.403C>G	c.(403-405)CGA>GGA	p.R135G	DHX34_uc010elc.1_Missense_Mutation_p.R135G	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	135						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGAGTTCCGCCGAGCCCTGTT	0.652		NaN											0	0	0	0.010729	0	10	119				
KDELR1	10945	broad.mit.edu	37	19	48892915	48892915	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:48892915G>A	uc002pjb.1	-	3	441	c.246C>T	c.(244-246)TTC>TTT	p.F82F	KDELR1_uc002pja.1_Silent_p.F20F	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum	82	Cytoplasmic (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity				0		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AAGTAGCTTTGAACTTGCTAT	0.532		NaN											0	0	0	0.010729	0	12	74				
FAM83E	54854	broad.mit.edu	37	19	49113235	49113235	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49113235C>T	uc002pjn.2	-	3	721	c.656G>A	c.(655-657)CGG>CAG	p.R219Q		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	219										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGCAGCCCCGCACGACACG	0.627		NaN											0	0	0	0.003954	0	24	15				
BAX	581	broad.mit.edu	37	19	49458852	49458852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49458852C>T	uc002plk.2	+	2	151	c.82C>T	c.(82-84)CAG>TAG	p.Q28*	BAX_uc002plf.1_Nonsense_Mutation_p.Q28*|BAX_uc002plg.1_Intron|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Nonsense_Mutation_p.Q28*|BAX_uc002pll.2_Nonsense_Mutation_p.Q28*|BAX_uc002plm.2_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	BCL2-associated X protein isoform alpha	28					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CCTTTTGCTTCAGGGGTGAGT	0.527		NaN											0	0	0	0.00361	0	52	59				
BAX	581	broad.mit.edu	37	19	49464129	49464129	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49464129C>T	uc002plk.2	+	5	501	c.432C>T	c.(430-432)CTC>CTT	p.L144L	BAX_uc002plf.1_Silent_p.L144L|BAX_uc002plg.1_Silent_p.L107L|BAX_uc002plh.1_Silent_p.L66L|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.L144L|BAX_uc002pll.2_Silent_p.L95L|BAX_uc002plm.2_Silent_p.L66L	NM_138761	NP_620116	Q07812	BAX_HUMAN	BCL2-associated X protein isoform alpha	144					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TGGACTTCCTCCGGGAGCGGC	0.483		NaN											0	0	0	0.013114	0	45	46				
RUVBL2	10856	broad.mit.edu	37	19	49510338	49510338	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49510338C>T	uc002plr.1	+	5	342	c.329C>T	c.(328-330)TCC>TTC	p.S110F	RUVBL2_uc002plq.1_Missense_Mutation_p.S65F|RUVBL2_uc010yab.1_Missense_Mutation_p.S110F|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.S65F|RUVBL2_uc010yac.1_Missense_Mutation_p.S65F	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	110					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GAAATCTTCTCCCTGGAGATG	0.657		NaN											0	0	0	0.007413	0	15	71				
MED25	81857	broad.mit.edu	37	19	50334032	50334032	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:50334032C>G	uc002ppw.1	+	9	1042	c.989C>G	c.(988-990)CCA>CGA	p.P330R	MED25_uc010ybe.1_Missense_Mutation_p.P117R|MED25_uc002ppx.1_Missense_Mutation_p.P111R	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	330	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAACTACCCCCAGGACCCCCT	0.706		NaN											0	0	0	0.00623	0	40	38				
PPP2R1A	5518	broad.mit.edu	37	19	52724377	52724377	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:52724377C>T	uc002pyp.2	+	12	1668	c.1509C>T	c.(1507-1509)TTC>TTT	p.F503F	PPP2R1A_uc010ydk.1_Silent_p.F448F|PPP2R1A_uc002pyq.2_Silent_p.F324F	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	503	PP2A subunit C binding.|HEAT 13.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTACGCTCTTCTGCATCAATG	0.592		NaN	Mis		clear cell ovarian carcinoma								0	0	0	0.00361	0	57	64				
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53057257G>C	uc010epq.1	+	5	1265	c.1088G>C	c.(1087-1089)AGA>ACA	p.R363T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383		NaN											0	0	0	0.001984	0	7	121				
BIRC8	112401	broad.mit.edu	37	19	53793212	53793212	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53793212G>C	uc002qbk.2	-	1	1664	c.416C>G	c.(415-417)TCT>TGT	p.S139C		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	139					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		GTTGCTCCCAGATGTTTGAAT	0.383		NaN											0	0	0	0.00278	0	23	210				
KIR2DL3	3804	broad.mit.edu	37	19	55263168	55263168	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55263168C>G	uc002qgv.2	+	6	801	c.783C>G	c.(781-783)CTC>CTG	p.L261L	KIR2DL3_uc002qgx.2_Silent_p.L261L|KIR2DL3_uc002qgy.2_Silent_p.L163L|KIR2DL3_uc010erw.1_Silent_p.L261L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	261	Helical; (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.423		NaN											0	0	0	0.010504	0	21	133				
NLRP7	199713	broad.mit.edu	37	19	55441934	55441934	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55441934T>A	uc002qih.3	-	9	2819	c.2743A>T	c.(2743-2745)ATA>TTA	p.I915L	NLRP7_uc002qig.3_Missense_Mutation_p.I887L|NLRP7_uc002qii.3_Missense_Mutation_p.I915L|NLRP7_uc010esk.2_Missense_Mutation_p.I915L|NLRP7_uc010esl.2_Missense_Mutation_p.I943L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	915	LRR 8.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCACGAGCTATCTGGTTGATA	0.418		NaN											0	0	0	0.001855	0	14	154				
PPP1R12C	54776	broad.mit.edu	37	19	55624149	55624149	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55624149C>T	uc002qix.2	-	2	352	c.336G>A	c.(334-336)GAG>GAA	p.E112E	PPP1R12C_uc010yfs.1_Silent_p.E38E|PPP1R12C_uc002qiy.2_Silent_p.E112E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	112	ANK 1.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCAGGTTCTCATCAATGC	0.647		NaN											0	0	0	0.004482	0	8	90				
U2AF2	11338	broad.mit.edu	37	19	56180822	56180822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:56180822C>G	uc002qlu.2	+	11	2112	c.1057C>G	c.(1057-1059)CAG>GAG	p.Q353E	U2AF2_uc002qlt.2_Missense_Mutation_p.Q349E	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	353					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCATCAATCAGACGCCTGT	0.662		NaN											0	0	0	0.007413	0	19	23				
ZNF671	79891	broad.mit.edu	37	19	58232514	58232514	+	Missense_Mutation	SNP	C	C	G	rs144079819		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58232514C>G	uc002qpz.3	-	4	1039	c.940G>C	c.(940-942)GAG>CAG	p.E314Q	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E237Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E216Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	314	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCGTTACACTCATAAGGCCTT	0.493		NaN											0	0	0	0.001368	0	12	126				
ZNF671	79891	broad.mit.edu	37	19	58233027	58233027	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58233027C>G	uc002qpz.3	-	4	526	c.427G>C	c.(427-429)GAG>CAG	p.E143Q	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E66Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E45Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATGCTCTGCTCAGAAGATACC	0.468		NaN											0	0	0	0.001368	0	11	92				
ZNF544	27300	broad.mit.edu	37	19	58772988	58772988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58772988C>T	uc010euo.2	+	7	1490	c.1016C>T	c.(1015-1017)TCA>TTA	p.S339L	ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.S311L|ZNF544_uc010yhy.1_Missense_Mutation_p.S311L|ZNF544_uc002qrt.3_Missense_Mutation_p.S197L|ZNF544_uc002qru.3_Missense_Mutation_p.S197L|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CCCATGGCCTCATCTTTTTCT	0.473		NaN											0	0	0	0.002299	0	22	62				
TRIM28	10155	broad.mit.edu	37	19	59060782	59060782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:59060782G>A	uc002qtg.1	+	13	2036	c.1747G>A	c.(1747-1749)GAG>AAG	p.E583K	TRIM28_uc010eut.1_Missense_Mutation_p.E501K|TRIM28_uc002qth.1_Missense_Mutation_p.E198K	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	583					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTCTTGCGGAGGGTCCTGG	0.652		NaN											0	0	0	0.003954	0	25	159				
GRHL1	29841	broad.mit.edu	37	2	10126392	10126392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:10126392C>T	uc002raa.2	+	9	1422	c.1251C>T	c.(1249-1251)ATC>ATT	p.I417I	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.I228I|GRHL1_uc010yjb.1_Silent_p.I266I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	417					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACTGCCAGATCAAGGTCTTCT	0.468		NaN											0	0	0	0.010771	0	41	219				
ROCK2	9475	broad.mit.edu	37	2	11427791	11427791	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:11427791G>C	uc002rbd.1	-	2	662	c.213C>G	c.(211-213)TTC>TTG	p.F71L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	71					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCTATTTAAGAAATTATCTA	0.264		NaN											0	0	0	0.004672	0	3	13				
ATAD2B	54454	broad.mit.edu	37	2	24011422	24011422	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:24011422G>C	uc002rek.3	-	20	3030	c.2736C>G	c.(2734-2736)CTC>CTG	p.L912L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.L157L|ATAD2B_uc002rej.3_Silent_p.L80L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	912							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCTGATTGAGAATCAATT	0.358		NaN											0	0	0	0.009096	0	4	44				
CAPN13	92291	broad.mit.edu	37	2	30976031	30976031	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:30976031G>A	uc002rnn.2	-	10	1151	c.975C>T	c.(973-975)ATC>ATT	p.I325I	CAPN13_uc002rnp.1_Silent_p.I325I	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	325	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAAACATGGCGATGAATTTCT	0.438		NaN											0	0	0	0.000602	0	5	113				
LTBP1	4052	broad.mit.edu	37	2	33412110	33412110	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:33412110C>T	uc002ros.2	+	6	1389	c.1389C>T	c.(1387-1389)ACC>ACT	p.T463T	LTBP1_uc002rot.2_Silent_p.T137T|LTBP1_uc002rou.2_Silent_p.T137T|LTBP1_uc002rov.2_Silent_p.T137T|LTBP1_uc010ymz.1_Silent_p.T137T|LTBP1_uc010yna.1_Silent_p.T137T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	463					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACACATACCTTGCCTCTGA	0.517		NaN											0	0	0	0.003163	0	13	31				
VIT	5212	broad.mit.edu	37	2	37000939	37000939	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37000939T>C	uc002rpl.2	+	8	906	c.685T>C	c.(685-687)TGG>CGG	p.W229R	VIT_uc010ynf.1_Missense_Mutation_p.W158R|VIT_uc002rpm.2_Missense_Mutation_p.W222R|VIT_uc010ezv.2_Missense_Mutation_p.W222R|VIT_uc010ezw.2_Missense_Mutation_p.W222R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	229						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TACAGATCTCTGGTCCACTGC	0.328		NaN											0	0	0	0.00308	0	8	7				
HEATR5B	54497	broad.mit.edu	37	2	37283642	37283642	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37283642G>C	uc002rpp.1	-	16	2436	c.2340C>G	c.(2338-2340)GTC>GTG	p.V780V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	780							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				AAGCATCAATGACTGAGACTC	0.433		NaN											0	0	0	0.00333	0	23	83				
HEATR5B	54497	broad.mit.edu	37	2	37284473	37284473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37284473G>A	uc002rpp.1	-	15	2306	c.2210C>T	c.(2209-2211)TCA>TTA	p.S737L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	737							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GTCTTCAATTGATTTATGATC	0.358		NaN											0	0	0	0.000602	0	4	36				
SOS1	6654	broad.mit.edu	37	2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:39234309C>T	uc002rrk.3	-	16	2577	c.2536G>A	c.(2536-2538)GAA>AAA	p.E846K	SOS1_uc002rrj.3_Missense_Mutation_p.E460K	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	846	Ras-GEF.		E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308		NaN							Noonan_syndrome				0	0	0	0.010818	0	30	76				
HAAO	23498	broad.mit.edu	37	2	42996988	42996988	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:42996988G>C	uc002rst.3	-	7	570	c.495C>G	c.(493-495)CTC>CTG	p.L165L		NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	165	Linker (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1						GTGGCTCCTTGAGCAGCTGGT	0.637		NaN											0	0	0	0.00499	0	16	75				
MSH2	4436	broad.mit.edu	37	2	47693913	47693913	+	Missense_Mutation	SNP	G	G	A	rs63750675		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:47693913G>A	uc002rvy.1	+	10	1695	c.1627G>A	c.(1627-1629)GAT>AAT	p.D543N	MSH2_uc010yoh.1_Missense_Mutation_p.D477N|MSH2_uc002rvz.2_Missense_Mutation_p.D543N|MSH2_uc010fbg.2_Missense_Mutation_p.D353N|MSH2_uc010fbh.1_RNA|MSH2_uc010fbi.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	543					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGTACTGTAGATATCCAGAA	0.323		NaN	D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.002299	0	20	72				
FOXN2	3344	broad.mit.edu	37	2	48573510	48573510	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:48573510G>C	uc002rwh.1	+	3	472	c.157G>C	c.(157-159)GAT>CAT	p.D53H		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	53					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGAGTCAGCAGATGATGAACT	0.448		NaN											0	0	0	0.001855	0	11	62				
ERLEC1	27248	broad.mit.edu	37	2	54035547	54035547	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:54035547G>A	uc002rxl.2	+	9	1271	c.991G>A	c.(991-993)GAT>AAT	p.D331N	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.D331N|ERLEC1_uc002rxn.2_Intron	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	331				D -> G (in Ref. 3; BAA91974).	ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						CAAATTGACAGATGACCAACT	0.398		NaN											0	0	0	0.00245	0	14	57				
FBXO48	554251	broad.mit.edu	37	2	68691345	68691345	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:68691345C>G	uc002seo.2	-	4	872	c.464G>C	c.(463-465)AGA>ACA	p.R155T		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	F-box protein 48	155											0						TTCCCCTTATCTTTCCAGTTC	0.358		NaN											0	0	0	0.006999	0	37	185				
EXOC6B	23233	broad.mit.edu	37	2	72968519	72968519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:72968519C>T	uc010fep.2	-	2	331	c.193G>A	c.(193-195)GAG>AAG	p.E65K	EXOC6B_uc002sij.2_Missense_Mutation_p.E65K	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	65	Potential.				protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CACATTTTCTCAATTTCTCGG	0.408		NaN											0	0	0	0.003163	0	12	114				
EIF2AK3	9451	broad.mit.edu	37	2	88874949	88874949	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:88874949G>A	uc002stc.3	-	13	2254	c.2052C>T	c.(2050-2052)CTC>CTT	p.L684L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	684	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TAGGAGAGCTGAGTGGCCAGT	0.408		NaN											0	0	0	0.001168	0	6	54				
KIAA1310	55683	broad.mit.edu	37	2	97276603	97276603	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97276603G>C	uc002swn.3	-	11	1325	c.1179C>G	c.(1177-1179)CTC>CTG	p.L393L	KIAA1310_uc002swh.3_Silent_p.L281L|KIAA1310_uc002swi.3_Silent_p.L294L|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Silent_p.L306L|KIAA1310_uc010fhz.2_Silent_p.L187L|KIAA1310_uc002swl.3_Silent_p.L294L|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Silent_p.L187L|KIAA1310_uc002swp.1_Silent_p.L294L|KIAA1310_uc002swq.1_Silent_p.L165L|KIAA1310_uc010fhy.1_Silent_p.L294L	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	393											0						TCATATCCAAGAGGGGATCAT	0.458		NaN											0	0	0	0.008871	0	19	92				
CNNM3	26505	broad.mit.edu	37	2	97483169	97483169	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97483169C>G	uc002swy.2	+	1	1179	c.1155C>G	c.(1153-1155)TTC>TTG	p.F385L	CNNM3_uc002swz.2_Missense_Mutation_p.F385L	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	385					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						TCACTCGTTTCTACAACCATC	0.592		NaN											0	0	0	0.008291	0	11	71				
AFF3	3899	broad.mit.edu	37	2	100199373	100199373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:100199373C>T	uc002tag.2	-	16	2916	c.2680G>A	c.(2680-2682)GAG>AAG	p.E894K	AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	894					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GTTAAGTCCTCGCTGGTGTAT	0.463		NaN											0	0	0	0.003163	0	13	52				
MERTK	10461	broad.mit.edu	37	2	112740456	112740456	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740456G>A	uc002thk.1	+	8	1304	c.1182G>A	c.(1180-1182)CTG>CTA	p.L394L	MERTK_uc002thl.1_Silent_p.L218L	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	394	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						CTGTGTTTCTGAATGAATCTA	0.448		NaN											0	0	0	0.004289	0	36	123				
MERTK	10461	broad.mit.edu	37	2	112740460	112740460	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740460G>A	uc002thk.1	+	8	1308	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K	MERTK_uc002thl.1_Missense_Mutation_p.E220K	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	396	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						GTTTCTGAATGAATCTAGTGA	0.453		NaN											0	0	0	0.003271	0	34	116				
MERTK	10461	broad.mit.edu	37	2	112740501	112740501	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740501G>A	uc002thk.1	+	8	1349	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P	MERTK_uc002thl.1_Silent_p.P233P	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	409	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						TGAAGCCTCCGACTAAGCAGC	0.463		NaN											0	0	0	0.00632	0	20	84				
MERTK	10461	broad.mit.edu	37	2	112740537	112740537	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740537G>C	uc002thk.1	+	8	1385	c.1263G>C	c.(1261-1263)CGG>CGC	p.R421R	MERTK_uc002thl.1_Silent_p.R245R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	421	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						TGGGCTACCGGATATCCCACG	0.453		NaN											0	0	0	0.00333	0	13	68				
IWS1	55677	broad.mit.edu	37	2	128260414	128260414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128260414C>T	uc002ton.2	-	5	1747	c.1444G>A	c.(1444-1446)GAT>AAT	p.D482N	IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	482	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCTTCATCACCAGATTCT	0.308		NaN											0	0	0	0.00245	0	13	36				
UGGT1	56886	broad.mit.edu	37	2	128918082	128918082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128918082G>A	uc002tps.2	+	24	2789	c.2611G>A	c.(2611-2613)GAT>AAT	p.D871N	UGGT1_uc010fme.1_Missense_Mutation_p.D746N|UGGT1_uc002tpr.2_Missense_Mutation_p.D847N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	871					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TTCCAAAATGGATTTCATTTT	0.403		NaN											0	0	0	0.001984	0	5	40				
RAB6C	84084	broad.mit.edu	37	2	130738132	130738132	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:130738132G>A	uc002tpx.1	+	1	898	c.444G>A	c.(442-444)CTG>CTA	p.L148L	uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	148					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					CCAAAGGGCTGAATGTTACGT	0.463		NaN											0	0	0	0.004878	0	35	158				
NCKAP5	344148	broad.mit.edu	37	2	133543084	133543084	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:133543084C>T	uc002ttp.2	-	14	1674	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	434							protein binding				0						TATATTCCTTCATTCGAGTTC	0.458		NaN											0	0	0	0.001855	0	12	55				
ZEB2	9839	broad.mit.edu	37	2	145161507	145161507	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:145161507C>T	uc002tvu.2	-	6	1263	c.783G>A	c.(781-783)GTG>GTA	p.V261V	ZEB2_uc002tvv.2_Silent_p.V255V|ZEB2_uc010zbm.1_Silent_p.V232V|ZEB2_uc010fnp.2_Silent_p.V169V|ZEB2_uc010fnq.1_Silent_p.V290V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	261	C2H2-type 2.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTGTGTGTCACCATATGCC	0.418		NaN											0	0	0	0.010729	0	10	97				
NEB	4703	broad.mit.edu	37	2	152496556	152496556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:152496556G>C	uc010fnx.2	-	62	8895	c.8704C>G	c.(8704-8706)CTC>GTC	p.L2902V	NEB_uc002txu.2_Missense_Mutation_p.L6V	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2902	Nebulin 78.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCCACTGGAGATCAGACTTG	0.378		NaN											0	0	0	0.007291	0	25	89				
SCN3A	6328	broad.mit.edu	37	2	165947272	165947272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:165947272C>T	uc002ucx.2	-	28	5883	c.5391G>A	c.(5389-5391)TGG>TGA	p.W1797*	SCN3A_uc010zcy.1_Nonsense_Mutation_p.W280*|SCN3A_uc002ucy.2_Nonsense_Mutation_p.W1748*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.W1748*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1797						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CAAACTTTTCCCAAACCTCAT	0.463		NaN											0	0	0	0.00308	0	8	72				
TTC21B	79809	broad.mit.edu	37	2	166747011	166747011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:166747011C>G	uc002udk.2	-	24	3374	c.3241G>C	c.(3241-3243)GAA>CAA	p.E1081Q	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1081						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						TCCAGGTTTTCAAATACTTCA	0.358		NaN											0	0	0	0.004007	0	16	23				
KBTBD10	10324	broad.mit.edu	37	2	170359659	170359659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170359659G>C	uc010zdh.1	+	10	929	c.871G>C	c.(871-873)GAC>CAC	p.D291H	BBS5_uc002uet.2_Missense_Mutation_p.D291H|BBS5_uc010fpw.2_Missense_Mutation_p.D270H	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Bardet-Biedl syndrome 5	356	Kelch 1.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TGTAGAAATAGACTCTGATGG	0.373		NaN											0	0	0	0.004482	0	9	17				
C2orf77	129881	broad.mit.edu	37	2	170506887	170506887	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170506887T>C	uc002ufe.2	-	7	1198	c.1104A>G	c.(1102-1104)GAA>GAG	p.E368E		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	368	Potential.										0						CTTTGTTTTTTTCATCTTTTT	0.308		NaN											0	0	0	0.004672	0	2	16				
TTN	7273	broad.mit.edu	37	2	179402447	179402447	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179402447C>T	uc010zfg.1	-	304	92007	c.91783G>A	c.(91783-91785)GAG>AAG	p.E30595K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24290K|TTN_uc010zfi.1_Missense_Mutation_p.E24223K|TTN_uc010zfj.1_Missense_Mutation_p.E24098K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31522							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTTCCTCTGTCATTACT	0.428		NaN											0	0	0	0.006214	0	9	31				
TTN	7273	broad.mit.edu	37	2	179481355	179481355	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179481355G>A	uc010zfg.1	-	206	40683	c.40459C>T	c.(40459-40461)CGC>TGC	p.R13487C	TTN_uc010zfh.1_Missense_Mutation_p.R7182C|TTN_uc010zfi.1_Missense_Mutation_p.R7115C|TTN_uc010zfj.1_Missense_Mutation_p.R6990C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14414							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTGGGCGAGCTGAAAAA	0.383		NaN											0	0	0	0.006214	0	10	32				
TTN	7273	broad.mit.edu	37	2	179528787	179528787	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179528787C>A	uc010zfk.1	-	14	1305	c.757G>T	c.(757-759)GTG>TTG	p.V253L	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11465							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACCGACACTTTCTTTTCA	0.383		NaN											1	0	1.08611e-07	0.010729	1.1424e-07	9	48				
PDE1A	5136	broad.mit.edu	37	2	183094834	183094834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:183094834C>T	uc002uos.2	-	7	706	c.622G>A	c.(622-624)GAA>AAA	p.E208K	PDE1A_uc010zfp.1_Missense_Mutation_p.E104K|PDE1A_uc002uoq.1_Missense_Mutation_p.E208K|PDE1A_uc010zfq.1_Missense_Mutation_p.E208K|PDE1A_uc002uor.2_Missense_Mutation_p.E192K|PDE1A_uc002uou.2_Missense_Mutation_p.E174K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	208	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAACCAACTTCTAAAGCTTCT	0.333		NaN											0	0	0	0.001168	0	6	35				
ITGAV	3685	broad.mit.edu	37	2	187455093	187455093	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187455093C>T	uc002upq.2	+	1	304	c.28C>T	c.(28-30)CGC>TGC	p.R10C	ITGAV_uc010frs.2_Missense_Mutation_p.R10C	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	10					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GCGACGGCTGCGCCTCGGTCC	0.706		NaN											0	0	0	0.000602	0	5	21				
ITGAV	3685	broad.mit.edu	37	2	187516805	187516805	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187516805C>G	uc002upq.2	+	15	1770	c.1494C>G	c.(1492-1494)CTC>CTG	p.L498L	ITGAV_uc010frs.2_Silent_p.L462L|ITGAV_uc010zfv.1_Silent_p.L452L	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	498	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GAACAGCTCTCAAAGTTTCCT	0.378		NaN											0	0	0	0.004482	0	8	16				
RFTN2	130132	broad.mit.edu	37	2	198498569	198498569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:198498569C>T	uc002uuo.3	-	4	993	c.591G>A	c.(589-591)TGG>TGA	p.W197*		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	197						plasma membrane					0						TCCCTTCATTCCAACTTCTAC	0.408		NaN											0	0	0	0.00499	0	16	139				
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201468754C>T	uc002uvx.2	+	8	704	c.603C>T	c.(601-603)CTC>CTT	p.L201L		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	201					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.303		NaN											0	0	0	0.000602	0	4	50				
CLK1	1195	broad.mit.edu	37	2	201721702	201721702	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201721702T>A	uc002uwe.2	-	8	1020	c.839A>T	c.(838-840)CAC>CTC	p.H280L	CLK1_uc002uwd.2_Missense_Mutation_p.H103L|CLK1_uc010zhi.1_Missense_Mutation_p.H322L|CLK1_uc002uwf.2_Missense_Mutation_p.H54L|CLK1_uc002uwg.2_Missense_Mutation_p.H129L|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	280	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						CTTATTACTGTGCAAAACTGA	0.328		NaN											0	0	0	0.004672	0	3	40				
BMPR2	659	broad.mit.edu	37	2	203420557	203420557	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:203420557C>T	uc002uzf.3	+	12	3317	c.2169C>T	c.(2167-2169)TTC>TTT	p.F723F	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	723	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AGCAGGACTTCACACAGACTG	0.473		NaN											0	0	0	0.004482	0	9	68				
PIKFYVE	200576	broad.mit.edu	37	2	209218754	209218754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:209218754C>T	uc002vcz.2	+	40	6135	c.5977C>T	c.(5977-5979)CAT>TAT	p.H1993Y		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1993	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TATTCGTTCTCATTCCAAAGC	0.418		NaN											0	0	0	0.005443	0	24	107				
ANKZF1	55139	broad.mit.edu	37	2	220094995	220094995	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:220094995G>A	uc002vkg.2	+	2	190	c.16G>A	c.(16-18)GAT>AAT	p.D6N	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.D6N|ANKZF1_uc010zkw.1_Intron|ANKZF1_uc002vkh.2_Intron|ANKZF1_uc002vki.2_Missense_Mutation_p.D6N|ANKZF1_uc002vkj.1_5'Flank	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	6						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGCTCCAGATGCAGCCCC	0.602		NaN											0	0	0	0.000602	0	5	24				
COL4A4	1286	broad.mit.edu	37	2	227924258	227924258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:227924258G>A	uc010zlt.1	-	28	2900	c.2246C>T	c.(2245-2247)TCA>TTA	p.S749L		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	749	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTCCTGGTGAGCCGGGAGG	0.552		NaN											0	0	0	0.001368	0	13	61				
SP100	6672	broad.mit.edu	37	2	231407626	231407626	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:231407626C>G	uc002vqu.1	+	29	2764	c.2623C>G	c.(2623-2625)CAG>GAG	p.Q875E	SP100_uc010fxp.1_Missense_Mutation_p.Q193E	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	Error:Variant_position_missing_in_P23497_after_alignment					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTTGCAATTCAGGAAACAAG	0.373		NaN											0	0	0	0.00308	0	8	56				
UGT1A5	54579	broad.mit.edu	37	2	234622344	234622344	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234622344C>G	uc002vuw.2	+	1	707	c.707C>G	c.(706-708)TCT>TGT	p.S236C	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.S236C	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	236					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGCCTTGCCTCTGAGCTTTTT	0.527		NaN											0	0	0	0.006999	0	39	161				
HJURP	55355	broad.mit.edu	37	2	234749538	234749538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234749538C>T	uc002vvg.2	-	8	1954	c.1888G>A	c.(1888-1890)GAC>AAC	p.D630N	HJURP_uc010znd.1_Missense_Mutation_p.D569N|HJURP_uc010zne.1_Missense_Mutation_p.D538N	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	630					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGTGAGGGTCTGGATTTAAT	0.448		NaN											0	0	0	0.004007	0	16	61				
PER2	8864	broad.mit.edu	37	2	239184478	239184478	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:239184478C>T	uc002vyc.2	-	4	591	c.354G>A	c.(352-354)CTG>CTA	p.L118L	PER2_uc010znv.1_Silent_p.L118L|PER2_uc010znw.1_Silent_p.L118L|PER2_uc010fyx.1_Silent_p.L118L	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	118					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTGGACCTTCAGCTCCTTTA	0.517		NaN											0	0	0	0.001368	0	12	65				
ANKMY1	51281	broad.mit.edu	37	2	241468765	241468765	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:241468765G>T	uc002vyz.1	-	4	604	c.375C>A	c.(373-375)ATC>ATA	p.I125I	ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.I214I|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	125							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGTGGGTGATGAAGCTGG	0.562		NaN											1	0	5.9392e-07	0.001168	6.23752e-07	4	28				
MTERFD2	130916	broad.mit.edu	37	2	242035439	242035439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:242035439C>T	uc002wan.1	-	3	1700	c.1207G>A	c.(1207-1209)GAT>AAT	p.D403N	MTERFD2_uc010zoj.1_Missense_Mutation_p.D186N	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	374										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcctcatcctcatcattg	0.189		NaN											0	0	0	0.003163	0	16	68				
CSNK2A1	1457	broad.mit.edu	37	20	469330	469330	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:469330G>C	uc002wdw.1	-	11	1209	c.816C>G	c.(814-816)ATC>ATG	p.I272M	CSNK2A1_uc002wdx.1_Missense_Mutation_p.I272M|CSNK2A1_uc002wdy.1_Missense_Mutation_p.I136M	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	272	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACCTGCCCAAGATATCATTGA	0.358		NaN											0	0	0	0.010729	0	12	51				
SLC4A11	83959	broad.mit.edu	37	20	3210005	3210005	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:3210005G>T	uc002wig.2	-	14	1932	c.1884C>A	c.(1882-1884)TTC>TTA	p.F628L	SLC4A11_uc010zqe.1_Missense_Mutation_p.F655L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F612L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	628	Membrane (bicarbonate transporter).|Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						CGATTTCCCGGAAGCCATGGG	0.667		NaN											1	0	2.0095e-06	0.001984	2.10084e-06	6	49				
SLC23A2	9962	broad.mit.edu	37	20	4848512	4848512	+	Silent	SNP	G	G	A	rs72552221	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:4848512G>A	uc002wlg.1	-	13	1635	c.1260C>T	c.(1258-1260)TTC>TTT	p.F420F	SLC23A2_uc010zqr.1_Silent_p.F305F|SLC23A2_uc002wlh.1_Silent_p.F420F	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	420				GIFVEGL -> YVPEKTS (in Ref. 10).	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						GGCCTTCCACGAAAATTCCCC	0.403		NaN											0	0	0	0.00308	0	7	21				
LRRN4	164312	broad.mit.edu	37	20	6022478	6022478	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:6022478G>C	uc002wmo.2	-	5	1637	c.1413C>G	c.(1411-1413)ATC>ATG	p.I471M		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	471	Extracellular (Potential).					integral to membrane				skin(3)	3						AGGCAGCTGAGATATCAGGCT	0.647		NaN											0	0	0	0.007413	0	17	74				
CRNKL1	51340	broad.mit.edu	37	20	20031155	20031155	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:20031155C>A	uc002wrs.2	-	3	678	c.646G>T	c.(646-648)GAT>TAT	p.D216Y	C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.D204Y	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	216					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TCTTCTTCATCTGTGATCTTC	0.408		NaN											1	0	2.23348e-06	0.004007	2.33147e-06	17	42				
GZF1	64412	broad.mit.edu	37	20	23350821	23350821	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:23350821G>A	uc010gdb.2	+	7	2053	c.1879G>A	c.(1879-1881)GAA>AAA	p.E627K	GZF1_uc002wsy.2_Missense_Mutation_p.E627K|GZF1_uc010zsq.1_Missense_Mutation_p.E151K|GZF1_uc010zsr.1_Missense_Mutation_p.E136K|GZF1_uc002wsz.2_Missense_Mutation_p.E627K	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	627					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACAGCCTGACGAAGAGTATGT	0.448		NaN											0	0	0	0.006214	0	9	29				
HM13	81502	broad.mit.edu	37	20	30137129	30137129	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:30137129C>A	uc002wwe.2	+	6	774	c.660C>A	c.(658-660)GTC>GTA	p.V220V	HM13_uc002wwc.2_Silent_p.V220V|HM13_uc002wwd.2_Silent_p.V220V|HM13_uc002wwf.2_Silent_p.V96V|HM13_uc010gdu.2_Silent_p.V96V	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	220	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCTACGATGTCTTCTGGGTGA	0.562		NaN											1	0	1.66031e-10	0.003954	1.76248e-10	23	167				
ZNF341	84905	broad.mit.edu	37	20	32379155	32379155	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:32379155G>A	uc002wzy.2	+	15	2417	c.2397G>A	c.(2395-2397)GCG>GCA	p.A799A	ZNF341_uc002wzx.2_Silent_p.A792A|ZNF341_uc010geq.2_Silent_p.A709A|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Silent_p.A226A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGCCGGACGCGGTGCTGTCCA	0.701		NaN											0	0	0	0.004482	0	6	54				
TP53INP2	58476	broad.mit.edu	37	20	33296631	33296631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33296631G>C	uc002xau.1	+	3	423	c.88G>C	c.(88-90)GAT>CAT	p.D30H		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	30						nucleus					0						GTCGGAGGAGGATGAAGTGGA	0.652		NaN											0	0	0	0.009096	0	4	37				
TRPC4AP	26133	broad.mit.edu	37	20	33632447	33632447	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33632447G>A	uc002xbk.2	-	7	760	c.726C>T	c.(724-726)CTC>CTT	p.L242L	TRPC4AP_uc002xbl.2_Silent_p.L242L|TRPC4AP_uc010zur.1_Silent_p.L203L|TRPC4AP_uc002xbm.1_Silent_p.L242L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	242	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAAATTAGCGAGCTGCTGCT	0.438		NaN											0	0	0	0.003954	0	25	129				
PHF20	51230	broad.mit.edu	37	20	34435272	34435272	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34435272G>A	uc002xek.1	+	4	367	c.256G>A	c.(256-258)GAA>AAA	p.E86K	PHF20_uc002xei.1_Missense_Mutation_p.E86K|PHF20_uc010gfo.1_Missense_Mutation_p.E86K|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TGTTTTTTAGGAATTTCAAAT	0.373		NaN											0	0	0	0.010504	0	18	41				
EPB41L1	2036	broad.mit.edu	37	20	34797578	34797578	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34797578A>G	uc002xfb.2	+	15	2008	c.1837A>G	c.(1837-1839)ACG>GCG	p.T613A	EPB41L1_uc002xeu.2_Missense_Mutation_p.T539A|EPB41L1_uc010zvo.1_Missense_Mutation_p.T613A|EPB41L1_uc002xev.2_Missense_Mutation_p.T613A|EPB41L1_uc002xew.2_Missense_Mutation_p.T504A|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.T539A|EPB41L1_uc010gfq.2_Missense_Mutation_p.T712A	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	613					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GGTCAGCTCTACGTCTAGCCT	0.607		NaN											0	0	0	0.010504	0	20	24				
LBP	3929	broad.mit.edu	37	20	36982714	36982714	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:36982714C>G	uc002xic.1	+	4	434	c.399C>G	c.(397-399)GTC>GTG	p.V133V		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	133					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				ATGTCAGTGTCAAGGGCATCA	0.557		NaN											0	0	0	0.003163	0	15	121				
SLC32A1	140679	broad.mit.edu	37	20	37357141	37357141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:37357141C>G	uc002xjc.2	+	2	1700	c.1437C>G	c.(1435-1437)CGC>CGG	p.R479R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	479	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCACCTGCGCCTGCTCTGGC	0.642		NaN											0	0	0	0.009096	0	4	52				
L3MBTL	26013	broad.mit.edu	37	20	42164893	42164893	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:42164893C>T	uc010zwh.1	+	18	2062	c.2016C>T	c.(2014-2016)CTC>CTT	p.L672L	L3MBTL_uc002xkl.2_Silent_p.L604L|L3MBTL_uc002xkm.2_Silent_p.L604L|L3MBTL_uc010ggl.2_Silent_p.L609L|L3MBTL_uc002xkn.1_Silent_p.L363L|L3MBTL_uc002xko.2_Silent_p.L256L	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	604					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGAAGAACCTCTCAGGCTTCT	0.642		NaN											0	0	0	0.009096	0	4	15				
HNF4A	3172	broad.mit.edu	37	20	43043252	43043252	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:43043252G>A	uc002xma.2	+	5	687	c.598G>A	c.(598-600)GAG>AAG	p.E200K	HNF4A_uc002xlt.2_Missense_Mutation_p.E178K|HNF4A_uc002xlu.2_Missense_Mutation_p.E178K|HNF4A_uc002xlv.2_Missense_Mutation_p.E178K|HNF4A_uc002xly.2_Missense_Mutation_p.E200K|HNF4A_uc002xlz.2_Missense_Mutation_p.E200K|HNF4A_uc010ggq.2_Missense_Mutation_p.E193K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	200					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTTCTCGTTGAGTGGGCCAA	0.622		NaN											0	0	0	0.004482	0	8	23				
SULF2	55959	broad.mit.edu	37	20	46307544	46307544	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:46307544G>A	uc002xto.2	-	8	1399	c.1069C>T	c.(1069-1071)CCC>TCC	p.P357S	SULF2_uc002xtr.2_Missense_Mutation_p.P357S|SULF2_uc002xtq.2_Missense_Mutation_p.P357S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	357					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						ACGATGTGGGGATTCCTGGGG	0.617		NaN											0	0	0	0.003163	0	12	96				
ZNF831	128611	broad.mit.edu	37	20	57769685	57769685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:57769685C>T	uc002yan.2	+	1	3611	c.3611C>T	c.(3610-3612)TCT>TTT	p.S1204F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1204						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					AAGGCGGCATCTGTGTACTTG	0.622		NaN											0	0	0	0.001368	0	13	39				
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:58558027C>G	uc002ybe.2	+	5	743	c.443C>G	c.(442-444)TCC>TGC	p.S148C	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	148	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403		NaN											0	0	0	0.00632	0	27	156				
USP25	29761	broad.mit.edu	37	21	17236685	17236685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:17236685C>G	uc002yjy.1	+	19	2653	c.2436C>G	c.(2434-2436)ATC>ATG	p.I812M	USP25_uc011aby.1_Missense_Mutation_p.I882M|USP25_uc002yjz.1_Missense_Mutation_p.I844M|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	812					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCTACTTTATCCAGAACCAGG	0.348		NaN											0	0	0	0.00333	0	23	30				
GRIK1	2897	broad.mit.edu	37	21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31023467C>T	uc002yno.1	-	6	1389	c.925G>A	c.(925-927)GAG>AAG	p.E309K	GRIK1_uc002ynn.2_Missense_Mutation_p.E309K|GRIK1_uc011acs.1_Missense_Mutation_p.E309K|GRIK1_uc011act.1_Missense_Mutation_p.E253K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.2_Missense_Mutation_p.E309K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463		NaN											0	0	0	0.000602	0	5	52				
KRTAP24-1	643803	broad.mit.edu	37	21	31655209	31655209	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31655209G>A	uc002ynv.2	-	1	68	c.42C>T	c.(40-42)GTC>GTT	p.V14V		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	14						keratin filament	structural molecule activity				0						TGGTACTGCAGACACCAGGAT	0.493		NaN											0	0	0	0.001368	0	10	28				
KRTAP19-4	337971	broad.mit.edu	37	21	31869328	31869328	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31869328C>T	uc011acz.1	-	1	101	c.101G>A	c.(100-102)AGA>AAA	p.R34K		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	34						intermediate filament				ovary(2)	2						ATAACCCAGTCTGCGGAAGCT	0.527		NaN											0	0	0	0.00632	0	26	119				
TIAM1	7074	broad.mit.edu	37	21	32519265	32519265	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:32519265G>C	uc002yow.1	-	21	3895	c.3423C>G	c.(3421-3423)CTC>CTG	p.L1141L	TIAM1_uc011adk.1_Silent_p.L1141L|TIAM1_uc011adl.1_Silent_p.L1081L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1141	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AGGCACTGTAGAGCTTGAAGC	0.517		NaN											0	0	0	0.004482	0	7	28				
SYNJ1	8867	broad.mit.edu	37	21	34038745	34038745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:34038745G>C	uc002yqh.2	-	16	2067	c.2067C>G	c.(2065-2067)ATC>ATG	p.I689M	SYNJ1_uc011ads.1_Missense_Mutation_p.I645M|SYNJ1_uc002yqf.2_Missense_Mutation_p.I650M|SYNJ1_uc002yqg.2_Missense_Mutation_p.I645M|SYNJ1_uc002yqi.2_Missense_Mutation_p.I689M	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	650	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TTACTGACCTGATAAAAGGAG	0.388		NaN											0	0	0	0.003755	0	35	208				
DOPEY2	9980	broad.mit.edu	37	21	37595610	37595610	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:37595610C>G	uc002yvg.2	+	11	1411	c.1332C>G	c.(1330-1332)CTC>CTG	p.L444L	DOPEY2_uc011aeb.1_Silent_p.L444L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	444					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGACTTTCTCTGGGATTATA	0.368		NaN											0	0	0	0.007413	0	17	91				
LRRC3	81543	broad.mit.edu	37	21	45876864	45876864	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:45876864G>A	uc002zfa.2	+	2	630	c.337G>A	c.(337-339)GGG>AGG	p.G113R		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	113						integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGGCCTGGCCGGGGGCCTGCG	0.677		NaN											0	0	0	0.00308	0	7	38				
PCBP3	54039	broad.mit.edu	37	21	47359997	47359997	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:47359997G>A	uc002zhq.1	+	13	1088	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q	PCBP3_uc002zhp.1_Silent_p.Q301Q|PCBP3_uc002zhs.1_Silent_p.Q295Q|PCBP3_uc002zhr.1_Silent_p.Q320Q|PCBP3_uc002zht.1_Silent_p.Q311Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	321	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAATTCGACAGATGTCTGGAG	0.532		NaN											0	0	0	0.008291	0	10	47				
CABIN1	23523	broad.mit.edu	37	22	24468354	24468354	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:24468354C>T	uc002zzi.1	+	18	2653	c.2526C>T	c.(2524-2526)GTC>GTT	p.V842V	CABIN1_uc002zzj.1_Silent_p.V792V|CABIN1_uc002zzl.1_Silent_p.V842V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	842					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGCCCCACGTCTCTTCAGTGC	0.582		NaN											0	0	0	0.00308	0	7	34				
RFPL1	5988	broad.mit.edu	37	22	29835056	29835056	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29835056C>T	uc003afn.2	+	1	485	c.276C>T	c.(274-276)CCC>CCT	p.P92P	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	92							zinc ion binding				0						AAATCAGGCCCAGTTGGCAGC	0.512		NaN											0	0	0	0.001855	0	13	61				
THOC5	8563	broad.mit.edu	37	22	29921847	29921847	+	Silent	SNP	C	C	T	rs150202892		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29921847C>T	uc003afr.2	-	13	1490	c.1155G>A	c.(1153-1155)CTG>CTA	p.L385L	THOC5_uc003afq.2_Silent_p.L46L|THOC5_uc003afs.2_Silent_p.L385L|THOC5_uc003aft.2_Silent_p.L385L|THOC5_uc003afu.2_Silent_p.L385L|THOC5_uc010gvo.2_Silent_p.L129L	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	385					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						TGGGGGTGATCAGCTCCATGG	0.547		NaN											0	0	0	0.001855	0	11	52				
OSBP2	23762	broad.mit.edu	37	22	31266642	31266642	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:31266642C>T	uc003aiy.1	+	3	1184	c.1080C>T	c.(1078-1080)TTC>TTT	p.F360F	OSBP2_uc011ala.1_Silent_p.F195F|OSBP2_uc010gwc.1_Silent_p.F187F|OSBP2_uc003aix.1_Silent_p.F360F|OSBP2_uc011alb.1_Silent_p.F360F|OSBP2_uc003aiz.1_Silent_p.F360F|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.1_Silent_p.F102F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	360					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCACCCTCTTCCGCATCACAT	0.647		NaN											0	0	0	0.001984	0	7	24				
C22orf28	51493	broad.mit.edu	37	22	32788307	32788307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:32788307C>T	uc003amm.2	-	11	1461	c.1330G>A	c.(1330-1332)GAT>AAT	p.D444N		NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	444					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						TCCTGGAAATCTAAATTACGT	0.413		NaN											0	0	0	0.004482	0	8	40				
TIMP3	7078	broad.mit.edu	37	22	33255169	33255169	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:33255169C>T	uc003anb.2	+	5	1627	c.441C>T	c.(439-441)ATC>ATT	p.I147I	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	147	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						AATTGCAGATCAAGTCCTGCT	0.537		NaN											0	0	0	0.010729	0	12	37				
MYH9	4627	broad.mit.edu	37	22	36689431	36689431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:36689431C>T	uc003apg.2	-	30	4270	c.4039G>A	c.(4039-4041)GAG>AAG	p.E1347K		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1347	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCCTCCTCCTCCTCCAGCTGC	0.637		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.001368	0	13	43				
POLR2F	5435	broad.mit.edu	37	22	38352817	38352817	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:38352817G>A	uc003aul.2	+	2	179	c.58G>A	c.(58-60)GAA>AAA	p.E20K	POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	20					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					GGAGGAGGATGAAGGGCTAGA	0.458		NaN											0	0	0	0.00308	0	8	38				
RANGAP1	5905	broad.mit.edu	37	22	41647082	41647082	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:41647082G>T	uc003azs.2	-	12	2882	c.1412C>A	c.(1411-1413)TCT>TAT	p.S471Y	RANGAP1_uc003azt.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azu.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.S416Y	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	471					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						TAGGAAGGCAGAGACCACCTT	0.562		NaN											1	0	1.12685e-05	0.004482	1.17097e-05	9	35				
TRNT1	51095	broad.mit.edu	37	3	3189210	3189210	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:3189210G>A	uc003bpp.3	+	7	981	c.879G>A	c.(877-879)GTG>GTA	p.V293V	TRNT1_uc010hbv.2_Silent_p.V273V|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	293					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CAAAGCCAGTGACTCTTTTGG	0.353		NaN											0	0	0	0.003954	0	22	47				
ZFYVE20	64145	broad.mit.edu	37	3	15124116	15124116	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:15124116C>G	uc003bzm.1	-	9	1213	c.599_splice	c.e9-1	p.N200_splice	ZFYVE20_uc010hek.1_Splice_Site_p.N200_splice|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein						blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTGAGCTTGTCTGTAACCACA	0.572		NaN											0	0	0	0.006214	0	10	18				
EAF1	85403	broad.mit.edu	37	3	15475961	15475961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:15475961C>T	uc003bzu.2	+	4	665	c.442C>T	c.(442-444)CCA>TCA	p.P148S	EAF1_uc011avq.1_Missense_Mutation_p.P47S	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	148	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						ATTCAGAGCTCCAACGAAGCC	0.522		NaN											0	0	0	0.004878	0	38	244				
VIPR1	7433	broad.mit.edu	37	3	42573763	42573763	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:42573763C>T	uc003clf.2	+	10	1072	c.948C>T	c.(946-948)ATC>ATT	p.I316I	VIPR1_uc011azl.1_Silent_p.I268I|VIPR1_uc011azm.1_Silent_p.I106I|VIPR1_uc011azn.1_Silent_p.I289I|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	316	Helical; Name=5; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTTGCATCATCCGAATCCTGC	0.567		NaN											0	0	0	0.006122	0	18	29				
CCRL2	9034	broad.mit.edu	37	3	46450087	46450087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:46450087C>G	uc003cpp.3	+	2	802	c.517C>G	c.(517-519)CAG>GAG	p.Q173E	CCRL2_uc010hjg.2_Missense_Mutation_p.Q185E|CCRL2_uc010hjf.2_Missense_Mutation_p.Q173E	NM_003965	NP_003956	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2 isoform 1	173	Extracellular (Potential).				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTATAAACCTCAGATGGAAGA	0.463		NaN											0	0	0	0.001368	0	13	68				
APEH	327	broad.mit.edu	37	3	49713611	49713611	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49713611G>A	uc003cxf.2	+	6	965	c.565G>A	c.(565-567)GAT>AAT	p.D189N	APEH_uc010hkw.1_Missense_Mutation_p.D189N	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	189					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCAGCGATGATGAGATAGC	0.592		NaN											0	0	0	0.001168	0	6	46				
MST1R	4486	broad.mit.edu	37	3	49933757	49933757	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49933757C>T	uc003cxy.3	-	10	2784	c.2520G>A	c.(2518-2520)GGG>GGA	p.G840G	MST1R_uc011bdd.1_Silent_p.G841G|MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	840	IPT/TIG 3.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTCAGATTCCCTGCCACCC	0.597		NaN											0	0	0	0.003954	0	22	75				
TLR9	54106	broad.mit.edu	37	3	52264889	52264889	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52264889C>T	uc003ddb.2	-	2	228	c.18G>A	c.(16-18)CAG>CAA	p.Q6Q	TLR9_uc003ddc.1_5'Flank|TWF2_uc003ddd.2_Silent_p.Q202Q|TWF2_uc010hmc.2_Silent_p.Q202Q	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	Error:Variant_position_missing_in_Q9NR96_after_alignment					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CACCCACCATCTGGATGTAGT	0.617		NaN											0	0	0	0.004672	0	3	15				
GLYCTK	132158	broad.mit.edu	37	3	52325046	52325046	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52325046G>A	uc003ddo.2	+	3	544	c.448G>A	c.(448-450)GAT>AAT	p.D150N	GLYCTK_uc003ddq.2_Missense_Mutation_p.D150N|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.D150N|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	150					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCCGGACCGCGATGCGCTGCG	0.617		NaN											0	0	0	0.001168	0	6	42				
NISCH	11188	broad.mit.edu	37	3	52523592	52523592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52523592G>C	uc011beg.1	+	18	3426	c.3354G>C	c.(3352-3354)GAG>GAC	p.E1118D	NISCH_uc003ded.3_Missense_Mutation_p.E1118D|NISCH_uc003dee.3_Missense_Mutation_p.E607D|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1118					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCTCGGAGGAGAATCAGATCC	0.458		NaN											0	0	0	0.010729	0	12	77				
PRKCD	5580	broad.mit.edu	37	3	53212459	53212459	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:53212459C>T	uc003dgl.2	+	3	374	c.21C>T	c.(19-21)ATC>ATT	p.I7I	PRKCD_uc003dgm.2_Silent_p.I7I|PRKCD_uc003dgn.2_Silent_p.I7I	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	7	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TCCTGCGCATCGCCTTCAACT	0.682		NaN											0	0	0	0.00308	0	6	42				
PDZRN3	23024	broad.mit.edu	37	3	73438983	73438983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:73438983C>T	uc003dpl.1	-	7	1496	c.1400G>A	c.(1399-1401)GGA>GAA	p.G467E	PDZRN3_uc011bgh.1_Missense_Mutation_p.G124E|PDZRN3_uc010hoe.1_Missense_Mutation_p.G165E|PDZRN3_uc011bgf.1_Missense_Mutation_p.G184E|PDZRN3_uc011bgg.1_Missense_Mutation_p.G187E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	467	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATGCGGTCTCCTTCTCGGAT	0.468		NaN											0	0	0	0.001855	0	13	39				
CNTN3	5067	broad.mit.edu	37	3	74350684	74350684	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:74350684C>A	uc003dpm.1	-	15	2040	c.1960G>T	c.(1960-1962)GAT>TAT	p.D654Y		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	654	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTTCCCATCGATGACCTCA	0.443		NaN											1	0	0.004672	0.004672	0.00475469	3	71				
MYH15	22989	broad.mit.edu	37	3	108203941	108203941	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:108203941C>G	uc003dxa.1	-	12	1228	c.1171G>C	c.(1171-1173)GAA>CAA	p.E391Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	391	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TTCTTACTTTCTGTGCCATCT	0.383		NaN											0	0	0	0.008871	0	19	48				
TMPRSS7	344805	broad.mit.edu	37	3	111769523	111769523	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:111769523G>A	uc010hqb.2	+	7	888	c.718G>A	c.(718-720)GAA>AAA	p.E240K	TMPRSS7_uc011bhr.1_Missense_Mutation_p.E95K	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	366	Extracellular (Potential).|CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						TCCAGAGTGTGAAAACACAGT	0.398		NaN											0	0	0	0.002836	0	32	207				
CD200R1L	344807	broad.mit.edu	37	3	112546253	112546253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546253C>T	uc003dzi.1	-	3	617	c.391G>A	c.(391-393)GAT>AAT	p.D131N	CD200R1L_uc011bhw.1_Missense_Mutation_p.D110N|CD200R1L_uc010hqf.1_Missense_Mutation_p.D110N	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	131	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						AAATTCCCATCAGGTGTTACC	0.453		NaN											0	0	0	0.010504	0	20	90				
CD200R1L	344807	broad.mit.edu	37	3	112546398	112546398	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546398C>T	uc003dzi.1	-	3	472	c.246G>A	c.(244-246)AAG>AAA	p.K82K	CD200R1L_uc011bhw.1_Silent_p.K61K|CD200R1L_uc010hqf.1_Silent_p.K61K	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	82	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						TTGTTTCTTTCTTGTAGGCTT	0.438		NaN											0	0	0	0.001855	0	13	74				
CCDC52	152185	broad.mit.edu	37	3	113172624	113172624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113172624C>T	uc003eag.3	-	14	2122	c.1831G>A	c.(1831-1833)GAA>AAA	p.E611K	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.E507K	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	611					cell division|mitosis	centriole|spindle	protein binding				0						TCCAAATCTTCTCCCATGTGA	0.438		NaN											0	0	0	0.002836	0	34	93				
ATP6V1A	523	broad.mit.edu	37	3	113528247	113528247	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113528247G>A	uc003eao.2	+	15	1893	c.1827G>A	c.(1825-1827)CAG>CAA	p.Q609Q	ATP6V1A_uc011bik.1_Silent_p.Q576Q	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	609					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						AAGACATGCAGAATGCATTCC	0.393		NaN											0	0	0	0.001984	0	7	48				
POLQ	10721	broad.mit.edu	37	3	121206874	121206874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121206874G>C	uc003eee.3	-	16	5033	c.4904C>G	c.(4903-4905)TCA>TGA	p.S1635*	POLQ_uc003eed.2_Nonsense_Mutation_p.S807*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1635					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TAGATCAAATGATGCCCCTGA	0.373		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.00361	0	63	166				
GOLGB1	2804	broad.mit.edu	37	3	121411306	121411306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121411306C>T	uc003eei.3	-	14	7016	c.6890G>A	c.(6889-6891)CGC>CAC	p.R2297H	GOLGB1_uc010hrc.2_Missense_Mutation_p.R2302H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2263H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2297	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GTATAGGTGGCGTGTCTCTTC	0.433		NaN											0	0	0	0.001855	0	13	90				
ILDR1	286676	broad.mit.edu	37	3	121725918	121725918	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121725918G>A	uc003ees.2	-	2	255	c.149C>T	c.(148-150)TCT>TTT	p.S50F	ILDR1_uc003eeq.2_Missense_Mutation_p.S62F|ILDR1_uc003eer.2_Missense_Mutation_p.S50F|ILDR1_uc010hrg.2_Missense_Mutation_p.S50F	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	50	Extracellular (Potential).|Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		GAGCTGGGCAGAGGTGGTGTA	0.527		NaN											0	0	0	0.008291	0	9	58				
RUVBL1	8607	broad.mit.edu	37	3	127831851	127831851	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:127831851G>A	uc003ekh.2	-	3	345	c.241C>T	c.(241-243)CTG>TTG	p.L81L	RUVBL1_uc003ekf.2_Silent_p.L21L|RUVBL1_uc010hss.2_Silent_p.L81L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	81					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GCAATAGCCAGAGCCAGAGCT	0.483		NaN											0	0	0	0.004482	0	9	82				
MRPL3	11222	broad.mit.edu	37	3	131217033	131217033	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:131217033G>A	uc003eoh.2	-	4	622	c.458C>T	c.(457-459)TCA>TTA	p.S153L	MRPL3_uc011blo.1_Missense_Mutation_p.S48L|MRPL3_uc011blp.1_Missense_Mutation_p.S180L	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	153					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						ACGAAAACGTGATACAGTTTT	0.348		NaN											0	0	0	0.008871	0	18	71				
TF	7018	broad.mit.edu	37	3	133494392	133494392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:133494392C>T	uc003epu.1	+	20	3531	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	TF_uc011blt.1_Silent_p.A474A|TF_uc003epw.1_Silent_p.T40T|TF_uc003epv.1_Silent_p.A601A	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	601	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGCCAGAGCCCCGAATCACG	0.512		NaN											0	0	0	0.001855	0	13	179				
ATR	545	broad.mit.edu	37	3	142188970	142188970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:142188970G>C	uc003eux.3	-	37	6399	c.6277C>G	c.(6277-6279)CTA>GTA	p.L2093V	ATR_uc003euy.1_5'Flank	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2093	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TCAAGCCATAGAGTTAACATT	0.318		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.009096	0	4	22				
ZIC1	7545	broad.mit.edu	37	3	147131226	147131226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:147131226C>T	uc003ewe.2	+	3	1951	c.1232C>T	c.(1231-1233)TCT>TTT	p.S411F		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	411	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACCATCGTGTCTCCCTCCACA	0.607		NaN											0	0	0	0.010729	0	11	72				
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151163978G>C	uc011bod.1	-	4	3791	c.3791C>G	c.(3790-3792)TCT>TGT	p.S1264C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1264					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458		NaN											0	0	0	0.00333	0	24	114				
IGSF10	285313	broad.mit.edu	37	3	151164002	151164002	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151164002G>A	uc011bod.1	-	4	3767	c.3767C>T	c.(3766-3768)TCA>TTA	p.S1256L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1256					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACACTTGTTGAAAGTGTGGT	0.418		NaN											0	0	0	0.00333	0	23	123				
PLCH1	23007	broad.mit.edu	37	3	155232674	155232674	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:155232674C>G	uc011bok.1	-	11	1712	c.1435_splice	c.e11-1	p.S479_splice	PLCH1_uc011boj.1_Splice_Site_p.S479_splice|PLCH1_uc011bol.1_Splice_Site_p.S461_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCATTACTCTGCAAAGAAT	0.348		NaN											0	0	0	0.000602	0	5	36				
GFM1	85476	broad.mit.edu	37	3	158383171	158383171	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158383171G>C	uc003fce.2	+	12	1533	c.1426G>C	c.(1426-1428)GAA>CAA	p.E476Q	GFM1_uc003fcd.2_Missense_Mutation_p.E476Q|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.E407Q	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	476					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTACAAGAGAAGATCCCAC	0.348		NaN											0	0	0	0.006214	0	8	36				
GFM1	85476	broad.mit.edu	37	3	158384153	158384153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158384153G>T	uc003fce.2	+	13	1686	c.1579G>T	c.(1579-1581)GAG>TAG	p.E527*	GFM1_uc003fcd.2_Nonsense_Mutation_p.E527*|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Nonsense_Mutation_p.E458*	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	527					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCCTTTCGAGAGACCATTAC	0.358		NaN											1	0	8.12818e-05	0.001984	8.35834e-05	7	31				
WDR49	151790	broad.mit.edu	37	3	167245664	167245664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167245664C>T	uc003fev.1	-	11	1798	c.1492G>A	c.(1492-1494)GAC>AAC	p.D498N	WDR49_uc003feu.1_Missense_Mutation_p.D323N|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498	WD 8.									large_intestine(1)|ovary(1)|skin(1)	3						ATACTGCAGTCTGCAGAGGAG	0.413		NaN											0	0	0	0.000602	0	5	25				
PDCD10	11235	broad.mit.edu	37	3	167414891	167414891	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167414891G>A	uc003fex.2	-	5	572	c.174C>T	c.(172-174)CTC>CTT	p.L58L	PDCD10_uc003fez.2_Silent_p.L58L|PDCD10_uc003fey.2_Silent_p.L58L	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	58					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2						TGTCTTGTGTGAGACCTGGAT	0.333		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	0.006214	0	10	42				
SKIL	6498	broad.mit.edu	37	3	170108952	170108952	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:170108952G>C	uc003fgu.2	+	6	2512	c.1800G>C	c.(1798-1800)CAG>CAC	p.Q600H	SKIL_uc011bps.1_Missense_Mutation_p.Q580H|SKIL_uc003fgv.2_Missense_Mutation_p.Q554H|SKIL_uc003fgw.2_Missense_Mutation_p.Q600H	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	600	Potential.				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGTTGAACAGAAAGACTTAG	0.348		NaN											0	0	0	0.001984	0	7	52				
EIF2B5	8893	broad.mit.edu	37	3	183860565	183860565	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:183860565A>C	uc003fmp.2	+	11	1911	c.1547_splice	c.e11-2	p.G516_splice	EIF2B5_uc003fmq.2_Splice_Site_p.G237_splice|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,						astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGCTTCTCAGGACTCAAGA	0.458		NaN											0	0	0	0.001168	0	6	13				
VPS8	23355	broad.mit.edu	37	3	184570306	184570306	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:184570306C>G	uc003fpb.1	+	10	937	c.766C>G	c.(766-768)CTT>GTT	p.L256V	VPS8_uc010hyd.1_Missense_Mutation_p.L256V	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	258							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATCCAACTCTTGCAATTTG	0.313		NaN											0	0	0	0.009096	0	4	35				
MAP3K13	9175	broad.mit.edu	37	3	185191489	185191489	+	Silent	SNP	C	C	T	rs148543279	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:185191489C>T	uc010hyf.2	+	12	2636	c.2370C>T	c.(2368-2370)CTC>CTT	p.L790L	MAP3K13_uc011brt.1_Silent_p.L583L|MAP3K13_uc011bru.1_Silent_p.L646L|MAP3K13_uc003fpi.2_Silent_p.L790L|MAP3K13_uc010hyg.2_Silent_p.L480L	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	790					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGTCATCCCTCGGCACCTCTC	0.512		NaN											0	0	0	0.00361	0	44	132				
HRG	3273	broad.mit.edu	37	3	186395041	186395041	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:186395041C>T	uc003fqq.2	+	7	970	c.947C>T	c.(946-948)CCT>CTT	p.P316L		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	316	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCACAAGGCCCTCCTCCACTA	0.493		NaN											0	0	0	0.001855	0	13	70				
C3orf21	152002	broad.mit.edu	37	3	194790491	194790491	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:194790491C>T	uc003fum.3	-	4	1243	c.1135G>A	c.(1135-1137)GTC>ATC	p.V379I	C3orf21_uc003ful.2_Missense_Mutation_p.V176I|C3orf21_uc003fuk.2_Missense_Mutation_p.V173I	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	379						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		TAGATCTTGACGTGGCCCTCA	0.627		NaN											0	0	0	0.001855	0	12	101				
LRCH3	84859	broad.mit.edu	37	3	197593030	197593030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:197593030C>G	uc011bul.1	+	17	1818	c.1813C>G	c.(1813-1815)CAG>GAG	p.Q605E	LRCH3_uc003fyj.1_Missense_Mutation_p.Q605E|LRCH3_uc011bum.1_Missense_Mutation_p.Q553E|LRCH3_uc011bun.1_Missense_Mutation_p.Q451E|LRCH3_uc003fyk.2_Missense_Mutation_p.Q200E	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	605						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CCAGAGAAATCAGCCTCAGCG	0.433		NaN											0	0	0	0.00245	0	11	83				
ZNF721	170960	broad.mit.edu	37	4	435805	435805	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:435805C>T	uc003gag.2	-	3	3142	c.2451G>A	c.(2449-2451)GCG>GCA	p.A817A	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.A849A|ZNF721_uc010ibe.2_Silent_p.A805A	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	817						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AACTAGTAAACGCTTTACCAC	0.393		NaN											0	0	0	0.00245	0	12	44				
KIAA1530	57654	broad.mit.edu	37	4	1347183	1347183	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:1347183G>A	uc003gde.3	+	5	1363	c.916G>A	c.(916-918)GAT>AAT	p.D306N		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	306											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GTACACGCTGGATGTGGAGCT	0.667		NaN											0	0	0	0.009096	0	4	5				
MSX1	4487	broad.mit.edu	37	4	4864675	4864675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:4864675G>C	uc003gif.2	+	2	952	c.717G>C	c.(715-717)AAG>AAC	p.K239N		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	233					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGCTGAAGATGGCCGCCA	0.657		NaN											0	0	0	0.004482	0	7	26				
SEL1L3	23231	broad.mit.edu	37	4	25789920	25789920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:25789920C>G	uc003gru.3	-	13	2295	c.2143G>C	c.(2143-2145)GAG>CAG	p.E715Q	SEL1L3_uc003grv.2_Missense_Mutation_p.E122Q	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	715	Sel1-like 3.					integral to membrane	binding				0						GCGTACCACTCAATTGCTGCT	0.468		NaN											0	0	0	0.003163	0	15	87				
TLR10	81793	broad.mit.edu	37	4	38776503	38776503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:38776503G>C	uc003gti.2	-	2	1088	c.709C>G	c.(709-711)CTT>GTT	p.L237V	TLR10_uc003gtj.2_Missense_Mutation_p.L237V|TLR10_uc003gtk.2_Missense_Mutation_p.L237V	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	237	Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						TCTAAACTAAGATTTCGTTGC	0.328		NaN											0	0	0	0.003163	0	14	24				
RFC1	5981	broad.mit.edu	37	4	39308303	39308303	+	Missense_Mutation	SNP	G	G	A	rs55727832		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:39308303G>A	uc003gty.1	-	14	2041	c.1907C>T	c.(1906-1908)TCC>TTC	p.S636F	RFC1_uc003gtx.1_Missense_Mutation_p.S635F	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	636					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						ATCTTTGCCGGAAAATTTACC	0.458		NaN											0	0	0	0.004482	0	9	25				
CXCL13	10563	broad.mit.edu	37	4	78527049	78527049	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:78527049C>T	uc003hkr.2	+	2	108	c.30C>T	c.(28-30)CTC>CTT	p.L10L		NM_006419	NP_006410	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13 (B-cell	10					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity				0						CTCTGCTTCTCATGCTGCTGG	0.443		NaN											0	0	0	0.004482	0	8	48				
WDFY3	23001	broad.mit.edu	37	4	85662946	85662946	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:85662946G>C	uc003hpd.2	-	38	6610	c.6202C>G	c.(6202-6204)CTT>GTT	p.L2068V		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2068						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATCTATAAGAAGTTTAGAT	0.368		NaN											0	0	0	0.008291	0	11	66				
ARHGAP24	83478	broad.mit.edu	37	4	86893235	86893235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:86893235C>T	uc003hpk.2	+	6	1095	c.646C>T	c.(646-648)CGA>TGA	p.R216*	ARHGAP24_uc003hpj.2_Nonsense_Mutation_p.R216*|ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R121*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R131*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R123*	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	216	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCTGTACCTCCGAGAACTTCC	0.418		NaN											0	0	0	0.001368	0	11	43				
SMARCAD1	56916	broad.mit.edu	37	4	95155124	95155124	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:95155124G>C	uc003htc.3	+	4	643	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	SMARCAD1_uc003htb.3_Missense_Mutation_p.E130Q|SMARCAD1_uc003htd.3_Missense_Mutation_p.E130Q|SMARCAD1_uc010ila.2_5'UTR	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	130					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATCTGAAGATGAAGAGTCCCA	0.274		NaN											0	0	0	0.001168	0	6	37				
RG9MTD2	93587	broad.mit.edu	37	4	100479303	100479303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:100479303G>C	uc003huy.2	-	3	564	c.251C>G	c.(250-252)TCA>TGA	p.S84*	RG9MTD2_uc003huz.3_Nonsense_Mutation_p.S84*|RG9MTD2_uc003hva.3_Nonsense_Mutation_p.S84*	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	84							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		ATGTCCATCTGAGTTTGGTTC	0.338		NaN											0	0	0	0.00308	0	8	47				
BANK1	55024	broad.mit.edu	37	4	102981490	102981490	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:102981490C>G	uc003hvy.3	+	12	2366	c.2092C>G	c.(2092-2094)CTG>GTG	p.L698V	BANK1_uc003hvx.3_Missense_Mutation_p.L683V|BANK1_uc010ill.2_Missense_Mutation_p.L565V|BANK1_uc003hvz.3_Missense_Mutation_p.L668V	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	698					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGATGAAGCTCTGGAGAAATT	0.453		NaN											0	0	0	0.000602	0	4	63				
BDH2	56898	broad.mit.edu	37	4	104013836	104013836	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:104013836G>A	uc003hwz.2	-	4	274	c.169C>T	c.(169-171)CTT>TTT	p.L57F	BDH2_uc003hxa.2_RNA	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	57					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GTGACATCAAGGACACGAGTT	0.338		NaN											0	0	0	0.009096	0	4	9				
INTS12	57117	broad.mit.edu	37	4	106614616	106614616	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:106614616C>G	uc003hxw.2	-	5	595	c.337G>C	c.(337-339)GAT>CAT	p.D113H	INTS12_uc010ilr.2_Missense_Mutation_p.D113H	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	113					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTGGAATATCAACTCCTTCA	0.373		NaN											0	0	0	0.003271	0	36	114				
EGF	1950	broad.mit.edu	37	4	110882118	110882118	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:110882118C>T	uc003hzy.3	+	7	1614	c.1162C>T	c.(1162-1164)CTG>TTG	p.L388L	EGF_uc011cfu.1_Silent_p.L346L|EGF_uc011cfv.1_Silent_p.L388L	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	388	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGATTTGTTCTGCTTCCTGA	0.388		NaN											0	0	0	0.001855	0	12	54				
ALPK1	80216	broad.mit.edu	37	4	113362208	113362208	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:113362208G>A	uc003iap.3	+	15	3953	c.3674G>A	c.(3673-3675)TGT>TAT	p.C1225Y	ALPK1_uc003ian.3_Missense_Mutation_p.C1225Y|ALPK1_uc011cfx.1_Missense_Mutation_p.C1147Y|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.C1053Y	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1225	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATGTGGAATGTAATGAAATC	0.383		NaN											0	0	0	0.00499	0	16	132				
PRDM5	11107	broad.mit.edu	37	4	121738027	121738027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:121738027G>A	uc003idn.2	-	6	953	c.703C>T	c.(703-705)CAG>TAG	p.Q235*	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	235	C2H2-type 3; atypical.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						ACAGAGCACTGAAAACTTCGC	0.378		NaN											0	0	0	0.004289	0	31	165				
PCDH10	57575	broad.mit.edu	37	4	134072563	134072563	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:134072563G>A	uc003iha.2	+	1	2094	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R423Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTGGACCGAGAGGCGGGG	0.592		NaN											0	0	0	0.006999	0	34	155				
FGA	2243	broad.mit.edu	37	4	155507837	155507837	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:155507837C>G	uc003iod.1	-	5	802	c.744G>C	c.(742-744)TGG>TGC	p.W248C	FGA_uc003ioe.1_Missense_Mutation_p.W248C|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	248	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTAATGCCTTCCACTCTGGGG	0.473		NaN											0	0	0	0.006214	0	10	77				
DDX60	55601	broad.mit.edu	37	4	169208323	169208323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:169208323C>T	uc003irp.2	-	10	1507	c.1215G>A	c.(1213-1215)ATG>ATA	p.M405I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	405							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATAATCTTTCATAATGGTAT	0.353		NaN											0	0	0	0.001168	0	5	28				
ODZ3	55714	broad.mit.edu	37	4	183664474	183664474	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:183664474G>A	uc003ivd.1	+	18	3568	c.3531G>A	c.(3529-3531)GCG>GCA	p.A1177A	ODZ3_uc003ive.1_Silent_p.A583A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1177	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCCCAGTGGCGCTAGCTTGTG	0.512		NaN											0	0	0	0.008291	0	10	44				
C4orf41	60684	broad.mit.edu	37	4	184614842	184614842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:184614842G>A	uc003ivx.2	+	21	2514	c.2338G>A	c.(2338-2340)GAA>AAA	p.E780K	C4orf41_uc003ivw.2_Missense_Mutation_p.E780K|C4orf41_uc010isc.2_Missense_Mutation_p.E124K|C4orf41_uc003ivy.2_Missense_Mutation_p.E386K	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	780											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TCAGTCCCATGAAAAGACCCA	0.393		NaN											0	0	0	0.004878	0	37	89				
SLC12A7	10723	broad.mit.edu	37	5	1076837	1076837	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:1076837G>A	uc003jbu.2	-	13	1786	c.1720C>T	c.(1720-1722)CTG>TTG	p.L574L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	574	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGCTGTCCAGAGAGGCGATG	0.667		NaN											0	0	0	0.001168	0	6	21				
ADAMTS16	170690	broad.mit.edu	37	5	5235258	5235258	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5235258G>C	uc003jdl.2	+	13	2120	c.1982G>C	c.(1981-1983)AGA>ACA	p.R661T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R661T|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	661	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AGACGATTCAGAGGGCGGCAC	0.483		NaN											0	0	0	0.001855	0	13	35				
KIAA0947	23379	broad.mit.edu	37	5	5476188	5476188	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5476188G>C	uc003jdm.3	+	17	6738	c.6516G>C	c.(6514-6516)CTG>CTC	p.L2172L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2172										ovary(1)|central_nervous_system(1)	2						TACTGAGGCTGATTGGTAAGT	0.353		NaN											0	0	0	0.004672	0	3	10				
TRIO	7204	broad.mit.edu	37	5	14472765	14472765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:14472765G>A	uc003jff.2	+	39	5983	c.5977G>A	c.(5977-5979)GAG>AAG	p.E1993K	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1642K	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1993	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CTATGTGGTTGAGGTGTGTAT	0.393		NaN											0	0	0	0.00499	0	15	62				
RAD1	5810	broad.mit.edu	37	5	34913668	34913668	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:34913668C>T	uc003jix.2	-	3	543	c.214G>A	c.(214-216)GAG>AAG	p.E72K	RAD1_uc003jiw.2_Intron|RAD1_uc003jiy.2_Missense_Mutation_p.E72K|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	72					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACTTTAAACTCCTGAAATATT	0.284		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.001855	0	12	32				
NUP155	9631	broad.mit.edu	37	5	37371030	37371030	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371030G>A	uc003jku.1	-	1	168	c.50C>T	c.(49-51)GCA>GTA	p.A17V	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A17V	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	17					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCAGGGCTGCGGCAGATGT	0.557		NaN											0	0	0	0.010729	0	11	55				
NUP155	9631	broad.mit.edu	37	5	37371140	37371140	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371140G>C	uc003jku.1	-	1	58	c.-60C>G	c.(-62--58)ATCTT>ATGTT		NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Translation_Start_Site	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAAGAAAAGATCCAAGAAG	0.567		NaN											0	0	0	0.000602	0	5	16				
PTGER4	5734	broad.mit.edu	37	5	40681862	40681862	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:40681862G>A	uc003jlz.2	+	2	1359	c.767G>A	c.(766-768)CGC>CAC	p.R256H		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	256	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						GACTTTCGGCGCCGCCGGAGC	0.716		NaN											0	0	0	0.001984	0	6	26				
MIER3	166968	broad.mit.edu	37	5	56219227	56219227	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:56219227A>T	uc003jrd.1	-	13	1406	c.1381T>A	c.(1381-1383)TAT>AAT	p.Y461N	MIER3_uc003jqz.1_Missense_Mutation_p.Y398N|MIER3_uc003jra.1_Missense_Mutation_p.Y460N|MIER3_uc003jrb.1_Missense_Mutation_p.Y285N|MIER3_uc003jrc.1_Missense_Mutation_p.Y466N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCGAGTGATAAAATCCAGTC	0.423		NaN											0	0	0	0.010504	0	19	37				
COL4A3BP	10087	broad.mit.edu	37	5	74675245	74675245	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:74675245C>G	uc011csu.1	-	17	2223	c.1801G>C	c.(1801-1803)GAG>CAG	p.E601Q	COL4A3BP_uc003kds.2_Missense_Mutation_p.E575Q|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E729Q|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E601Q	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	601	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAGGATACTCTCGCTTTGCC	0.373		NaN											0	0	0	0.00245	0	13	20				
MSH3	4437	broad.mit.edu	37	5	79950603	79950603	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:79950603G>A	uc003kgz.2	+	1	310	c.57G>A	c.(55-57)GCG>GCA	p.A19A	DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.L51L|DHFR_uc003kgy.1_5'UTR	NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	19					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAGCCCCTGCGAGGCAAGCGG	0.667		NaN						MMR					0	0	0	0.00308	0	6	12				
MSH3	4437	broad.mit.edu	37	5	80024675	80024675	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:80024675C>G	uc003kgz.2	+	10	1712	c.1459C>G	c.(1459-1461)CAA>GAA	p.Q487E		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	487					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTAGGTTCTCAAATTATTTC	0.264		NaN						MMR					0	0	0	0.00499	0	15	53				
VCAN	1462	broad.mit.edu	37	5	82832829	82832829	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:82832829G>A	uc003kii.3	+	8	4363	c.4007G>A	c.(4006-4008)CGA>CAA	p.R1336Q	VCAN_uc003kij.3_Missense_Mutation_p.R349Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_5'UTR	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1336	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTTCAGGTCGAATGAGTGAT	0.368		NaN											0	0	0	0.00308	0	8	7				
LNPEP	4012	broad.mit.edu	37	5	96349455	96349455	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:96349455C>T	uc003kmv.1	+	12	2653	c.2139C>T	c.(2137-2139)ATC>ATT	p.I713I	LNPEP_uc003kmw.1_Silent_p.I699I	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	713	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAGCACTAATCCATCAGTTGA	0.358		NaN											0	0	0	0.010729	0	11	65				
TMED7	51014	broad.mit.edu	37	5	114951919	114951919	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:114951919C>T	uc003krf.2	-	3	1043	c.662G>A	c.(661-663)CGT>CAT	p.R221H	TMED7-TICAM2_uc003krd.2_Intron|TMED7-TICAM2_uc003kre.2_Intron|TMED7_uc011cwd.1_Missense_Mutation_p.R133H	NM_181836	NP_861974	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain	221	Cytoplasmic (Potential).				transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TGATCCAACACGAGTTGTGGT	0.378		NaN											0	0	0	0.001368	0	12	24				
PCDHA1	56147	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140167237G>A	uc003lhb.2	+	1	1362	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	PCDHA1_uc003lha.2_Silent_p.A454A|PCDHA1_uc003lgz.2_Silent_p.A454A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	454	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677		NaN											0	0	0	0.005443	0	25	62				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140237249G>C	uc003lhx.2	+	1	1616	c.1616G>C	c.(1615-1617)GGG>GCG	p.G539A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	539	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687		NaN											0	0	0	0.000602	0	4	32				
PCDHB4	56131	broad.mit.edu	37	5	140503600	140503600	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140503600G>A	uc003lip.1	+	1	2020	c.2020G>A	c.(2020-2022)GAG>AAG	p.E674K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	674	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCTCCCTGAGGCGGCCCC	0.677		NaN											0	0	0	0.011902	0	43	76				
PCDHB10	56126	broad.mit.edu	37	5	140574015	140574015	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140574015G>A	uc003lix.2	+	1	2064	c.1890G>A	c.(1888-1890)CTG>CTA	p.L630L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	630	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGCTGCTGAGCGAGCGCG	0.682		NaN											0	0	0	0.004482	0	5	24				
PCDHGA1	56114	broad.mit.edu	37	5	140712087	140712087	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140712087C>T	uc003lji.1	+	1	1836	c.1836C>T	c.(1834-1836)AGC>AGT	p.S612S	PCDHGA1_uc011dan.1_Silent_p.S612S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	612	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGCCAGCGAGCCGGGAC	0.692		NaN											0	0	0	0.004007	0	16	46				
HTR4	3360	broad.mit.edu	37	5	147928298	147928298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:147928298G>A	uc003lpn.2	-	4	450	c.286C>T	c.(286-288)CGG>TGG	p.R96W	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.R96W|HTR4_uc003lpj.1_Missense_Mutation_p.R96W|HTR4_uc003lpk.2_Missense_Mutation_p.R96W|HTR4_uc011dby.1_Missense_Mutation_p.R96W|HTR4_uc003lpl.2_Missense_Mutation_p.R96W|HTR4_uc003lpm.2_Missense_Mutation_p.R96W|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.R96W	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	96	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGAGATGTCCGAACAAGACAA	0.502		NaN											0	0	0	0.009096	0	3	13				
FAM50B	26240	broad.mit.edu	37	6	3850759	3850759	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:3850759C>T	uc003mvu.2	+	2	826	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	238						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATGTTCATCAAGGAGGACC	0.627		NaN											0	0	0	0.008871	0	18	35				
PRPF4B	8899	broad.mit.edu	37	6	4049306	4049306	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:4049306C>G	uc003mvv.2	+	8	2083	c.1992C>G	c.(1990-1992)CTC>CTG	p.L664L	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	664						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATCCCAACCTCAGAGATAACT	0.408		NaN											0	0	0	0.006214	0	10	39				
DSP	1832	broad.mit.edu	37	6	7581110	7581110	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:7581110C>G	uc003mxp.1	+	23	4966	c.4687C>G	c.(4687-4689)CTG>GTG	p.L1563V	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1563	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGAACTCTCTGAAAGAGCT	0.542		NaN											0	0	0	0.010818	0	32	51				
HFE	3077	broad.mit.edu	37	6	26092939	26092939	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26092939C>T	uc003nfx.1	+	4	803	c.643C>T	c.(643-645)CAT>TAT	p.H215Y	HFE_uc003nfy.1_Missense_Mutation_p.H192Y|HFE_uc010jqe.1_Intron|HFE_uc003nfz.1_Missense_Mutation_p.H127Y|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Missense_Mutation_p.H123Y|HFE_uc003nge.1_Missense_Mutation_p.H35Y|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	215	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						GGTGACACATCATGTGACCTC	0.512		NaN							Hemochromatosis				0	0	0	0.007413	0	16	99				
HIST1H2BH	8345	broad.mit.edu	37	6	26252142	26252142	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26252142G>C	uc003nhh.2	+	1	264	c.264G>C	c.(262-264)TCG>TCC	p.S88S	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	88					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						ACAAGCGTTCGACCATCACCT	0.597		NaN											0	0	0	0.001984	0	6	97				
HIST1H4I	8294	broad.mit.edu	37	6	27107244	27107244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:27107244G>C	uc003niy.1	+	1	157	c.157G>C	c.(157-159)GAG>CAG	p.E53Q	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	53					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CCTCATCTATGAGGAGACCCG	0.632		NaN	T	BCL6	NHL								0	0	0	0.001984	0	7	65				
HLA-E	3133	broad.mit.edu	37	6	30457338	30457338	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:30457338C>G	uc003nqg.2	+	1	68	c.30C>G	c.(28-30)CTC>CTG	p.L10L	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.S8C	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	10				L -> S (in Ref. 1; AAA52655).	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						TTTTACTCCTCTCGGAGGCCC	0.537		NaN											0	0	0	0.004289	0	35	77				
BAT1	7919	broad.mit.edu	37	6	31498646	31498646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:31498646C>T	uc003ntt.2	-	10	1811	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	BAT1_uc003ntq.2_Missense_Mutation_p.E127K|BAT1_uc003ntr.2_Missense_Mutation_p.E201K|BAT1_uc003nts.2_Missense_Mutation_p.M401I|BAT1_uc011dnn.1_Missense_Mutation_p.E316K|BAT1_uc003ntu.2_Missense_Mutation_p.E394K|BAT1_uc003ntv.2_Missense_Mutation_p.E394K	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	394	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						GCATCATTCTCATCGGACACA	0.512		NaN											0	0	0	0.001368	0	11	48				
TNXB	7148	broad.mit.edu	37	6	32016366	32016366	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:32016366C>T	uc003nzl.2	-	29	10015	c.9813G>A	c.(9811-9813)GTG>GTA	p.V3271V	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3318	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGTCCGAGGTCACGGCCGCCA	0.701		NaN											0	0	0	0.009096	0	4	22				
HSD17B8	7923	broad.mit.edu	37	6	33173008	33173008	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173008C>G	uc003odi.1	+	3	308	c.281C>G	c.(280-282)TCT>TGT	p.S94C	uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	94					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)	GCCTGCTTTTCTCGCCCACCA	0.547		NaN											0	0	0	0.000602	0	5	44				
HSD17B8	7923	broad.mit.edu	37	6	33173950	33173950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173950G>A	uc003odi.1	+	7	718	c.691G>A	c.(691-693)GAG>AAG	p.E231K	uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.2_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	231					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)	GGGGGACCCTGAGGGTGAGCA	0.488		NaN											0	0	0	0.001984	0	6	39				
RNF8	9025	broad.mit.edu	37	6	37328350	37328350	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:37328350G>T	uc003onq.3	+	2	433	c.240G>T	c.(238-240)AAG>AAT	p.K80N	RNF8_uc003onr.3_Missense_Mutation_p.K80N|RNF8_uc011dtx.1_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	80	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						TGGACAACAAGGTACAGGAAT	0.323		NaN											1	0	2.68362e-12	0.001368	2.85756e-12	10	28				
TSPO2	222642	broad.mit.edu	37	6	41011326	41011326	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41011326G>C	uc003opj.2	+	3	505	c.204G>C	c.(202-204)CTG>CTC	p.L68L	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Intron|TSPO2_uc011dub.1_Silent_p.L68L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	68					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0						GGAAGGACCTGGGAGGGGGCT	0.582		NaN											0	0	0	0.001368	0	11	86				
FRS3	10817	broad.mit.edu	37	6	41739006	41739006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41739006G>C	uc003orc.1	-	7	1074	c.830C>G	c.(829-831)TCT>TGT	p.S277C		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	277					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGACACTCAGAAGGGGCCTC	0.647		NaN											0	0	0	0.001984	0	5	45				
CUL7	9820	broad.mit.edu	37	6	43008354	43008354	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:43008354C>G	uc003otq.2	-	21	4240	c.3937G>C	c.(3937-3939)GAG>CAG	p.E1313Q	CUL7_uc010jyg.2_Missense_Mutation_p.E592Q|CUL7_uc011dvb.1_Missense_Mutation_p.E1397Q|CUL7_uc010jyh.2_Missense_Mutation_p.E306Q|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1313					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGCTGCAGCTCCTTAGAGGTG	0.602		NaN											0	0	0	0.00632	0	27	129				
MEP1A	4224	broad.mit.edu	37	6	46801038	46801038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:46801038C>T	uc010jzh.1	+	11	1414	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	MEP1A_uc011dwg.1_Nonsense_Mutation_p.R180*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.R486*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.R358*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	458	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TCAGAGCCCTCGATTCTACAA	0.498		NaN											0	0	0	0.00278	0	23	46				
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:47576971C>G	uc003oyw.2	+	16	2201	c.1745C>G	c.(1744-1746)TCC>TGC	p.S582C		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	582	Potential.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393		NaN											0	0	0	0.00308	0	8	61				
PKHD1	5314	broad.mit.edu	37	6	51524156	51524157	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:51524156_51524157TC>CA	uc003pah.1	-	61	11043_11044	c.10767_10768GA>TG	c.(10765-10770)CAGATT>CATGTT	p.3589_3590QI>HV		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3589_3590	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTTGGCCAATCTGTAAGAAGT	0.436		NaN											0	0	0	0.004672	0	4	41				
PAQR8	85315	broad.mit.edu	37	6	52268302	52268302	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52268302C>T	uc003pao.3	+	2	465	c.291C>T	c.(289-291)GCC>GCT	p.A97A		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	97	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					GGGCCTTTGCCGAGGCTGAGG	0.577		NaN											0	0	0	0.001368	0	13	84				
GSTA5	221357	broad.mit.edu	37	6	52701092	52701092	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52701092G>T	uc003pba.1	-	4	284	c.214C>A	c.(214-216)CTT>ATT	p.L72I		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTAGTTAAGAATGGCTCTG	0.423		NaN											1	0	5.13769e-22	0.00361	5.49613e-22	51	174				
GSTA4	2941	broad.mit.edu	37	6	52850346	52850346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52850346C>T	uc003pbc.2	-	3	239	c.175G>A	c.(175-177)GAA>AAA	p.E59K	GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59K	NM_001512	NP_001503	O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity				0	Lung NSC(77;0.103)				Glutathione(DB00143)	CCGTCAATTTCAACCATGGGC	0.468		NaN											0	0	0	0.001855	0	13	62				
SMAP1	60682	broad.mit.edu	37	6	71566608	71566608	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:71566608C>T	uc003pfr.2	+	9	1084	c.836C>T	c.(835-837)TCT>TTT	p.S279F	SMAP1_uc003pfs.2_Missense_Mutation_p.S252F|SMAP1_uc010kao.2_Missense_Mutation_p.S252F|SMAP1_uc010kap.2_Missense_Mutation_p.S269F	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	279					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						ACAGTAACATCTGGGGATCTA	0.428		NaN											0	0	0	0.001984	0	7	82				
FAM46A	55603	broad.mit.edu	37	6	82459984	82459984	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:82459984C>T	uc003pjg.2	-	3	1075	c.757G>A	c.(757-759)GAG>AAG	p.E253K	FAM46A_uc003pjf.2_Missense_Mutation_p.E272K	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	253											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGAAATGTCTCAGTCATTGGG	0.438		NaN											0	0	0	0.008871	0	16	70				
NT5E	4907	broad.mit.edu	37	6	86181054	86181054	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:86181054C>T	uc003pko.3	+	3	1218	c.662C>T	c.(661-663)TCG>TTG	p.S221L	NT5E_uc003pkn.2_Missense_Mutation_p.S221L|NT5E_uc010kbr.2_Missense_Mutation_p.S221L	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	221					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTGGGACATTCGGGTTTTGAA	0.393		NaN											0	0	0	0.004482	0	8	37				
ORC3L	23595	broad.mit.edu	37	6	88362934	88362934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:88362934G>C	uc003pmh.2	+	14	1527	c.1483G>C	c.(1483-1485)GAG>CAG	p.E495Q	ORC3L_uc011dzl.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzm.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.E495Q|ORC3L_uc003pmi.2_Missense_Mutation_p.E457Q|ORC3L_uc011dzo.1_Missense_Mutation_p.E352Q|ORC3L_uc011dzp.1_Missense_Mutation_p.E352Q	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	495					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		TAAGAGAATAGAGGAGTTCCT	0.403		NaN											0	0	0	0.001984	0	6	55				
BACH2	60468	broad.mit.edu	37	6	90718326	90718326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:90718326C>T	uc011eab.1	-	6	1047	c.238G>A	c.(238-240)GAG>AAG	p.E80K	BACH2_uc003pnw.2_Missense_Mutation_p.E80K|BACH2_uc010kch.2_Missense_Mutation_p.E80K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	80	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGTACCTCCTCAGGCAAGCTG	0.473		NaN											0	0	0	0.001984	0	6	52				
RTN4IP1	84816	broad.mit.edu	37	6	107035677	107035677	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:107035677G>C	uc003prj.2	-	7	1344	c.867C>G	c.(865-867)CTC>CTG	p.L289L	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Silent_p.L189L	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	289						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACCATTTCTTGAGAAAATCTG	0.458		NaN											0	0	0	0.001984	0	7	194				
MAP3K5	4217	broad.mit.edu	37	6	136977457	136977457	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:136977457C>G	uc003qhc.2	-	10	2029	c.1668G>C	c.(1666-1668)GTG>GTC	p.V556V	MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Silent_p.V401V|MAP3K5_uc010kgw.1_Silent_p.V556V	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	556					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAACCTAACCACAGTAACAT	0.408		NaN											0	0	0	0.006214	0	9	78				
UTRN	7402	broad.mit.edu	37	6	144803392	144803392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:144803392C>T	uc003qkt.2	+	26	3647	c.3555C>T	c.(3553-3555)CTC>CTT	p.L1185L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1185	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAAGATTCTCAAGGACAACA	0.458		NaN											0	0	0	0.006214	0	9	37				
RMND1	55005	broad.mit.edu	37	6	151742433	151742433	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:151742433C>T	uc003qoi.2	-	9	1206	c.1026G>A	c.(1024-1026)GTG>GTA	p.V342V	RMND1_uc011eeq.1_Silent_p.V131V	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	342											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAGATAGTTTCACTTTCTTCC	0.328		NaN											0	0	0	0.004482	0	6	35				
CNKSR3	154043	broad.mit.edu	37	6	154771348	154771348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:154771348C>G	uc003qpy.2	-	2	602	c.97G>C	c.(97-99)GAG>CAG	p.E33Q		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	33	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTGATCTTCTCTCGTTCAAAC	0.517		NaN											0	0	0	0.001368	0	11	37				
QKI	9444	broad.mit.edu	37	6	163899843	163899843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:163899843G>C	uc003qui.2	+	3	868	c.317G>C	c.(316-318)AGA>ACA	p.R106T	QKI_uc003que.2_Missense_Mutation_p.R106T|QKI_uc003quf.2_Missense_Mutation_p.R106T|QKI_uc003qug.2_Missense_Mutation_p.R106T|QKI_uc003quh.2_Missense_Mutation_p.R106T|QKI_uc003quj.2_Missense_Mutation_p.R106T	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	106	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTTGGACCTAGAGGACTTACA	0.358		NaN											0	0	0	0.003163	0	14	68				
FRMD1	79981	broad.mit.edu	37	6	168464360	168464360	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:168464360G>C	uc003qwo.3	-	6	790	c.725C>G	c.(724-726)CCC>CGC	p.P242R	FRMD1_uc003qwm.3_Missense_Mutation_p.P13R|FRMD1_uc011egs.1_Missense_Mutation_p.P13R|FRMD1_uc011egt.1_Missense_Mutation_p.P154R|FRMD1_uc003qwn.3_Missense_Mutation_p.P174R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	242	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCTCCTTGGGGCTCAGGCC	0.652		NaN											0	0	0	0.006214	0	8	24				
SMOC2	64094	broad.mit.edu	37	6	169051384	169051384	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:169051384G>A	uc003qws.1	+	10	951	c.931G>A	c.(931-933)GAG>AAG	p.E311K	SMOC2_uc003qwr.1_Missense_Mutation_p.E322K|SMOC2_uc011egu.1_5'UTR	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	311					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAAAAAGCATGAGTTTCTGAC	0.512		NaN											0	0	0	0.001984	0	7	11				
MIOS	54468	broad.mit.edu	37	7	7628157	7628157	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:7628157G>C	uc003srf.2	+	8	2155	c.1847G>C	c.(1846-1848)AGA>ACA	p.R616T	MIOS_uc003srg.2_Missense_Mutation_p.R151T|MIOS_uc010ktq.2_Missense_Mutation_p.E14Q	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	616											0						GTACGTGACAGAGTGGCATTT	0.343		NaN											0	0	0	0.006122	0	13	37				
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:82072745G>C	uc003uhr.1	-	1	287	c.31C>G	c.(31-33)CTG>GTG	p.L11V		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	11						voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAAGTGTCAGAGTCAAGGCC	0.537		NaN											0	0	0	0.009096	0	4	26				
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Missense_Mutation	SNP	C	C	G	rs145206628		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:99707583C>G	uc003uti.2	-	12	1353	c.1272G>C	c.(1270-1272)CAG>CAC	p.Q424H	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.Q346H|TAF6_uc003uth.2_Missense_Mutation_p.Q481H|TAF6_uc003utk.2_Missense_Mutation_p.Q424H|TAF6_uc011kji.1_Missense_Mutation_p.Q461H|TAF6_uc003utj.2_Missense_Mutation_p.Q414H|TAF6_uc003utl.2_Missense_Mutation_p.Q424H|TAF6_uc003utm.2_Missense_Mutation_p.Q424H	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	424					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572		NaN											0	0	0	0.008291	0	10	72				
PIK3CG	5294	broad.mit.edu	37	7	106509785	106509785	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:106509785T>C	uc003vdv.3	+	2	1864	c.1779T>C	c.(1777-1779)TTT>TTC	p.F593F	PIK3CG_uc003vdu.2_Silent_p.F593F|PIK3CG_uc003vdw.2_Silent_p.F593F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	593					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CTAAGCTATTTAGTTCAGTGA	0.433		NaN											0	0	0	0.009535	0	27	68				
FOXP2	93986	broad.mit.edu	37	7	114304340	114304340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:114304340G>T	uc003vhb.2	+	16	2226	c.1852G>T	c.(1852-1854)GAG>TAG	p.E618*	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Nonsense_Mutation_p.E643*|FOXP2_uc003vha.2_Nonsense_Mutation_p.E526*|FOXP2_uc011kmu.1_Nonsense_Mutation_p.E635*|FOXP2_uc011kmv.1_Nonsense_Mutation_p.E617*|FOXP2_uc010ljz.1_Nonsense_Mutation_p.E433*	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	618					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TGCCTTGGCAGAGAGCAGTTT	0.388		NaN											1	0	0.000274275	0.004482	0.000281203	7	16				
MET	4233	broad.mit.edu	37	7	116409824	116409824	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116409824G>C	uc003vij.2	+	12	2896	c.2709G>C	c.(2707-2709)TTG>TTC	p.L903F	MET_uc010lkh.2_Missense_Mutation_p.L921F|MET_uc011knj.1_Missense_Mutation_p.L473F	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	903	Extracellular (Potential).				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTGAAATTGAACAGCGAGC	0.373		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.000602	0	5	26				
MET	4233	broad.mit.edu	37	7	116436028	116436028	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116436028C>T	uc003vij.2	+	21	4210	c.4023C>T	c.(4021-4023)TTC>TTT	p.F1341F	MET_uc010lkh.2_Silent_p.F1359F|MET_uc011knj.1_Silent_p.F911F	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	1341	Protein kinase.|Interaction with MUC20.|Interaction with RANBP9.|Cytoplasmic (Potential).				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCGATCTTCTCTACTTTCA	0.443		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.00499	0	18	75				
TTC26	79989	broad.mit.edu	37	7	138863036	138863036	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:138863036C>G	uc003vus.2	+	13	1260	c.1146C>G	c.(1144-1146)CTC>CTG	p.L382L	TTC26_uc011kqn.1_Silent_p.L382L|TTC26_uc011kqo.1_Silent_p.L351L|TTC26_uc011kqp.1_Silent_p.L277L|TTC26_uc003vut.2_Silent_p.L242L|TTC26_uc011kqq.1_Silent_p.L251L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	382							binding			ovary(1)	1						TGATTTACCTCAACTCATTTA	0.373		NaN											0	0	0	0.006214	0	10	55				
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:147183114T>G	uc003weu.1	+	11	2274	c.1758T>G	c.(1756-1758)AGT>AGG	p.S586R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	586	EGF-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468		NaN								HNSCC(39;0.1)			0	0	0	0.003163	0	6	49				
MLL3	58508	broad.mit.edu	37	7	151927069	151927069	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:151927069C>T	uc003wla.2	-	18	3134	c.2915G>A	c.(2914-2916)GGA>GAA	p.G972E	MLL3_uc003wkz.2_Missense_Mutation_p.G33E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	972	PHD-type 4.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGTAATCTTCCTTCTGCTCC	0.353		NaN	N		medulloblastoma								0	0	0	0.008871	0	10	165		Valid		
PSD3	23362	broad.mit.edu	37	8	18622977	18622977	+	Silent	SNP	G	G	A	rs139539737	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:18622977G>A	uc003wza.2	-	9	2257	c.2154C>T	c.(2152-2154)TTC>TTT	p.F718F	PSD3_uc003wyy.2_Silent_p.F184F|PSD3_uc003wyz.2_Silent_p.F19F	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	719	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GATCCTTGGAGAAATCAACAC	0.393		NaN											0	0	0	0.008871	0	17	83				
EPB49	2039	broad.mit.edu	37	8	21926966	21926966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:21926966C>T	uc011kyt.1	+	6	560	c.331C>T	c.(331-333)CAG>TAG	p.Q111*	EPB49_uc010ltl.2_Nonsense_Mutation_p.Q111*|EPB49_uc011kys.1_Nonsense_Mutation_p.Q71*|EPB49_uc010ltn.2_Nonsense_Mutation_p.Q86*|EPB49_uc011kyu.1_Nonsense_Mutation_p.Q111*|EPB49_uc011kyv.1_Nonsense_Mutation_p.Q111*|EPB49_uc010ltq.2_Nonsense_Mutation_p.Q111*	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	111					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AATCATCTCTCAGGCCTCGGC	0.632		NaN											0	0	0	0.00245	0	14	22				
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:23112846C>T	uc003xdc.2	+	4	1206	c.558C>T	c.(556-558)CTC>CTT	p.L186L	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	186					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582		NaN											0	0	0	0.006122	0	18	21				
CYP7A1	1581	broad.mit.edu	37	8	59409297	59409297	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:59409297G>C	uc003xtm.3	-	3	837	c.774C>G	c.(772-774)AGC>AGG	p.S258R		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	258					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACATGCGCAGGCTGATCAGTT	0.517		NaN							Neonatal_Giant_Cell_Hepatitis				0	0	0	0.001368	0	12	177				
MTFR1	9650	broad.mit.edu	37	8	66619459	66619459	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:66619459G>A	uc003xvm.2	+	6	944	c.732G>A	c.(730-732)GAG>GAA	p.E244E	MTFR1_uc011lep.1_Silent_p.E244E|MTFR1_uc003xvn.2_Silent_p.E211E|MTFR1_uc003xvo.1_Silent_p.E234E	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	244						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TCCTTAAAGAGATGAACAGTG	0.378		NaN											0	0	0	0.001168	0	6	83				
CRISPLD1	83690	broad.mit.edu	37	8	75941732	75941732	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:75941732G>C	uc003yan.2	+	14	1806	c.1431G>C	c.(1429-1431)CAG>CAC	p.Q477H	CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	477	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTCTTTTCAGAATGGAATCT	0.373		NaN											0	0	0	0.001168	0	4	30				
PSKH2	85481	broad.mit.edu	37	8	87076269	87076269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:87076269G>C	uc011lfy.1	-	2	777	c.777C>G	c.(775-777)TTC>TTG	p.F259L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	259	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			CAAAAGGCAGGAATCCGCTAA	0.408		NaN											0	0	0	0.006214	0	10	58				
ZFPM2	23414	broad.mit.edu	37	8	106814193	106814193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:106814193C>G	uc003ymd.2	+	8	1906	c.1883C>G	c.(1882-1884)TCT>TGT	p.S628C	ZFPM2_uc011lhs.1_Missense_Mutation_p.S359C	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	628					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCATCAATTCTTCCACTGTC	0.448		NaN											0	0	0	0.006122	0	18	33				
SYBU	55638	broad.mit.edu	37	8	110587905	110587905	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:110587905C>G	uc003ynj.3	-	7	1385	c.1222G>C	c.(1222-1224)GAC>CAC	p.D408H	SYBU_uc003yni.3_Missense_Mutation_p.D405H|SYBU_uc003ynk.3_Missense_Mutation_p.D289H|SYBU_uc010mco.2_Missense_Mutation_p.D407H|SYBU_uc003ynl.3_Missense_Mutation_p.D407H|SYBU_uc010mcp.2_Missense_Mutation_p.D408H|SYBU_uc010mcq.2_Missense_Mutation_p.D408H|SYBU_uc003yno.3_Missense_Mutation_p.D289H|SYBU_uc010mcr.2_Missense_Mutation_p.D408H|SYBU_uc003ynm.3_Missense_Mutation_p.D407H|SYBU_uc003ynn.3_Missense_Mutation_p.D407H|SYBU_uc010mcs.2_Missense_Mutation_p.D289H|SYBU_uc010mct.2_Missense_Mutation_p.D408H|SYBU_uc010mcu.2_Missense_Mutation_p.D407H|SYBU_uc003ynp.3_Missense_Mutation_p.D340H|SYBU_uc010mcv.2_Missense_Mutation_p.D408H|SYBU_uc003ynh.3_Missense_Mutation_p.D202H|SYBU_uc011lhw.1_Missense_Mutation_p.D278H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	408	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCCATTGTGTCAAGAGGGGGG	0.537		NaN											0	0	0	0.010729	0	9	77				
EXT1	2131	broad.mit.edu	37	8	119122991	119122991	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:119122991G>A	uc003yok.1	-	1	1068	c.295C>T	c.(295-297)CGC>TGC	p.R99C		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	99	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACTCCATGCGGCACTTCTTG	0.498		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	0.001855	0	13	71				
TRIB1	10221	broad.mit.edu	37	8	126448548	126448548	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:126448548C>G	uc003yrx.2	+	3	1536	c.954C>G	c.(952-954)CTC>CTG	p.L318L	TRIB1_uc011lis.1_Silent_p.L152L|TRIB1_uc010mdn.2_Silent_p.L87L	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	318	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTCGCAGCCTCTTGAGACGGG	0.562		NaN											0	0	0	0.001984	0	7	94				
MYC	4609	broad.mit.edu	37	8	128750661	128750661	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:128750661G>A	uc003ysh.1	+	3	666	c.153G>A	c.(151-153)AAG>AAA	p.K51K	MYC_uc003ysi.2_Silent_p.K66K	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	51					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ATATCTGGAAGAAATTCGAGC	0.657		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	36				
PTK2	5747	broad.mit.edu	37	8	141856744	141856744	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:141856744G>C	uc003yvu.2	-	6	714	c.484C>G	c.(484-486)CAA>GAA	p.Q162E	PTK2_uc003yvq.2_5'Flank|PTK2_uc003yvr.2_Missense_Mutation_p.Q61E|PTK2_uc003yvs.2_Missense_Mutation_p.Q162E|PTK2_uc003yvt.2_Missense_Mutation_p.Q184E|PTK2_uc003yvv.2_Missense_Mutation_p.Q49E|PTK2_uc011ljr.1_Missense_Mutation_p.Q162E	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	162	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTCCACTTGATCAGCTATC	0.299		NaN											0	0	0	0.009096	0	4	46				
EPPK1	83481	broad.mit.edu	37	8	144943483	144943483	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:144943483C>G	uc003zaa.1	-	1	3952	c.3939G>C	c.(3937-3939)CTG>CTC	p.L1313L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1313	Plectin 22.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCTCACTCAGCTCCCTGC	0.652		NaN											0	0	0	0.003954	0	21	74				
DOCK8	81704	broad.mit.edu	37	9	422095	422095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:422095G>C	uc003zgf.2	+	33	4313	c.4201G>C	c.(4201-4203)GAG>CAG	p.E1401Q	DOCK8_uc010mgu.2_Missense_Mutation_p.E703Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1301Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E859Q	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1401	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGAAGAAAGAGCAGACACA	0.413		NaN											0	0	0	0.009096	0	3	38				
RPS6	6194	broad.mit.edu	37	9	19376351	19376351	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:19376351C>G	uc003znv.1	-	6	732	c.690G>C	c.(688-690)AAG>AAC	p.K230N	RPS6_uc003znu.1_Missense_Mutation_p.K199N	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	230					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GTCTGCGTCTCTTCGCAATTT	0.408		NaN											0	0	0	0.004656	0	23	53				
ELAVL2	1993	broad.mit.edu	37	9	23731071	23731071	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:23731071C>G	uc003zpu.2	-	3	557	c.282G>C	c.(280-282)GAG>GAC	p.E94D	ELAVL2_uc003zps.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpt.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpv.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpw.2_Missense_Mutation_p.E94D	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	94	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGATAGCTTTCTCTGCATCCT	0.358		NaN											0	0	0	0.001168	0	6	16				
TOPORS	10210	broad.mit.edu	37	9	32543021	32543021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32543021G>A	uc003zrb.2	-	3	1669	c.1502C>T	c.(1501-1503)TCT>TTT	p.S501F	TOPORS_uc003zrc.2_Missense_Mutation_p.S434F	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	501	Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGTCCTCAGAATCAGAGGA	0.403		NaN											0	0	0	0.009535	0	32	41				
TOPORS	10210	broad.mit.edu	37	9	32544192	32544192	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32544192C>G	uc003zrb.2	-	3	498	c.331G>C	c.(331-333)GAT>CAT	p.D111H	TOPORS_uc003zrc.2_Missense_Mutation_p.D44H	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	111	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.|RING-type.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GACACATTATCAAATCTATCC	0.413		NaN											0	0	0	0.003163	0	14	61				
GRHPR	9380	broad.mit.edu	37	9	37429803	37429803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:37429803G>C	uc003zzu.1	+	6	609	c.568G>C	c.(568-570)GAG>CAG	p.E190Q	GRHPR_uc010mlv.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzt.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzv.1_Missense_Mutation_p.E47Q|GRHPR_uc003zzw.1_Missense_Mutation_p.E47Q	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	190					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding				0				GBM - Glioblastoma multiforme(29;0.00687)		GCCCAGGCCTGAGGAAGCAGC	0.537		NaN											0	0	0	0.001984	0	5	22				
TMEM2	23670	broad.mit.edu	37	9	74319522	74319522	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:74319522G>C	uc011lsa.1	-	18	3723	c.3183C>G	c.(3181-3183)GTC>GTG	p.V1061V	TMEM2_uc011lrz.1_Silent_p.V54V|TMEM2_uc010mos.2_Silent_p.V998V|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1061						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGAAGTTGACGAGGTATA	0.433		NaN											0	0	0	0.008361	0	27	38				
ROR2	4920	broad.mit.edu	37	9	94486310	94486310	+	Silent	SNP	G	G	A	rs146432734		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94486310G>A	uc004arj.1	-	9	2665	c.2466C>T	c.(2464-2466)AAC>AAT	p.N822N	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	822	Cytoplasmic (Potential).|Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCTGGTAGCCGTTGACGGGGA	0.662		NaN											0	0	0	0.00361	0	38	32				
SPTLC1	10558	broad.mit.edu	37	9	94809522	94809522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94809522G>T	uc004arl.1	-	11	1051	c.1013C>A	c.(1012-1014)TCA>TAA	p.S338*	SPTLC1_uc011ltv.1_Nonsense_Mutation_p.S338*	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	338	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAACGAAGCTGAAAAGCAGTA	0.438		NaN											1	0	4.68919e-08	0.008291	4.93976e-08	9	48				
KIAA1529	57653	broad.mit.edu	37	9	100079488	100079488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:100079488G>T	uc011lut.1	+	21	2259	c.1486G>T	c.(1486-1488)GAG>TAG	p.E496*	KIAA1529_uc004axe.1_Nonsense_Mutation_p.E496*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.E357*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.E314*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.E357*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.E354*	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TCTCAAGAAGGAGGCCCTGCT	0.632		NaN											1	0	0.00024832	0.009096	0.000254971	4	29				
ZFP37	7539	broad.mit.edu	37	9	115805729	115805729	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:115805729G>C	uc004bgm.1	-	4	1197	c.1169C>G	c.(1168-1170)TCA>TGA	p.S390*	ZFP37_uc011lwz.1_Nonsense_Mutation_p.S405*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.S391*	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	390	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AATAAGGTTTGAGCTGTGTCT	0.413		NaN											0	0	0	0.004007	0	16	84				
ASTN2	23245	broad.mit.edu	37	9	119770438	119770438	+	Silent	SNP	T	T	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:119770438T>G	uc004bjs.1	-	7	1625	c.1524A>C	c.(1522-1524)CCA>CCC	p.P508P	ASTN2_uc004bjr.1_Silent_p.P508P|ASTN2_uc004bjt.1_Silent_p.P457P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	508	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCTCACCCATGGGGAGGTGG	0.577		NaN											0	0	0	0.004672	0	3	55				
GARNL3	84253	broad.mit.edu	37	9	130111209	130111209	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130111209G>A	uc011mae.1	+	17	1839	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	GARNL3_uc011mad.1_Missense_Mutation_p.E458K	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAGCCGTGGGAGCCCCAGTG	0.517		NaN											0	0	0	0.001168	0	5	27				
SH2D3C	10044	broad.mit.edu	37	9	130536540	130536540	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130536540G>A	uc004bsc.2	-	2	386	c.244C>T	c.(244-246)CGC>TGC	p.R82C	SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.R26C	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	82					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						ATGCTGGGGCGAGGCATGGTG	0.637		NaN											0	0	0	0.004007	0	16	29				
NUP214	8021	broad.mit.edu	37	9	134003045	134003045	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:134003045G>T	uc004cag.2	+	2	291	c.180G>T	c.(178-180)CAG>CAT	p.Q60H	NUP214_uc004cah.2_Missense_Mutation_p.Q60H|NUP214_uc004caf.1_Missense_Mutation_p.Q60H	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	60					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGGCTTGCAGATTTTTCCTA	0.448		NaN	T	DEK|SET|ABL1	AML|T-ALL								1	0	1.01871e-10	0.008871	1.08307e-10	19	83				
NACC2	138151	broad.mit.edu	37	9	138903719	138903719	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:138903719G>A	uc004cgw.2	-	6	1563	c.1407C>T	c.(1405-1407)GTC>GTT	p.V469V	NACC2_uc010nbh.2_Silent_p.V108V|uc004cgv.3_5'Flank	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	BTB (POZ) domain containing 14A	469					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0						CGGAGCCCATGACCGTGCGGT	0.711		NaN											0	0	0	0.000602	0	5	2				
SEC16A	9919	broad.mit.edu	37	9	139371368	139371368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:139371368C>A	uc004chx.2	-	3	1009	c.700G>T	c.(700-702)GAA>TAA	p.E234*	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbn.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbo.1_Nonsense_Mutation_p.E234*	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	56					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAGGTCCTTCAGGGCAGGGT	0.652		NaN											1	0	0.00136819	0.001368	0.0013986	11	28				
ZMYND19	116225	broad.mit.edu	37	9	140477494	140477494	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:140477494C>T	uc004cno.1	-	5	703	c.481G>A	c.(481-483)GAG>AAG	p.E161K		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	161	Poly-Glu.					Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAAGAGTTCTCCTCCTCTTCC	0.527		NaN											0	0	0	0.005443	0	27	126				
PIGA	5277	broad.mit.edu	37	X	15349792	15349792	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15349792G>C	uc004cwr.2	-	2	361	c.261C>G	c.(259-261)CTC>CTG	p.L87L	PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.L87L|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.L87L	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	87	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					AATAGACTTTGAGGCCACTGG	0.463		NaN											0	0	0	0.00361	0	41	42				
BMX	660	broad.mit.edu	37	X	15548141	15548141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15548141C>G	uc004cww.2	+	10	1118	c.930C>G	c.(928-930)CTC>CTG	p.L310L	BMX_uc004cwx.3_Silent_p.L310L|BMX_uc004cwy.3_Silent_p.L310L	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	310	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AACAGTTACTCAGACAAAAGG	0.368		NaN											0	0	0	0.006214	0	9	16				
KLHL34	257240	broad.mit.edu	37	X	21675005	21675005	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:21675005G>A	uc004czz.1	-	1	1444	c.902C>T	c.(901-903)CCG>CTG	p.P301L		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	301										ovary(1)	1						TGCCCTCTGCGGGGCCGCGAC	0.557		NaN											0	0	0	0.001168	0	6	6				
POLA1	5422	broad.mit.edu	37	X	24906201	24906201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:24906201C>G	uc004dbl.2	+	35	4131	c.4108C>G	c.(4108-4110)CTT>GTT	p.L1370V		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	1370	Potential.|C4-type.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	AACTGGGCCTCTTTGCCCAGC	0.493		NaN											0	0	0	0.001368	0	12	17				
IL1RAPL1	11141	broad.mit.edu	37	X	29935671	29935671	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:29935671T>C	uc004dby.2	+	7	1377	c.869T>C	c.(868-870)ATT>ACT	p.I290T		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	290	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GAAAAATTTATTGAAGATCTG	0.363		NaN											0	0	0	0.012319	0	19	14				
UBA1	7317	broad.mit.edu	37	X	47069375	47069375	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:47069375C>T	uc004dhj.3	+	18	2203	c.2052C>T	c.(2050-2052)CCC>CCT	p.P684P	UBA1_uc004dhk.3_Silent_p.P684P|UBA1_uc004dhm.2_Silent_p.P132P	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	684					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						GCACTCAGCCCTTGGAGGTGC	0.607		NaN											0	0	0	0.008291	0	10	64				
PLP2	5355	broad.mit.edu	37	X	49030735	49030736	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:49030735_49030736CC>TT	uc004dmx.2	+	4	474_475	c.399_400CC>TT	c.(397-402)TTCCCC>TTTTCC	p.P134S		NM_002668	NP_002659	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic	134	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity				0						ATGTCACCTTCCCCGTTCGGCA	0.559		NaN											0	0	0	0.004672	0	17	15				
OTUD6A	139562	broad.mit.edu	37	X	69282886	69282886	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:69282886G>C	uc004dxu.1	+	1	546	c.512G>C	c.(511-513)CGC>CCC	p.R171P		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	171	OTU.									lung(1)|skin(1)	2						GAGATGCTGCGCTGCCGCACC	0.617		NaN											0	0	0	0.001168	0	5	8				
ATP7A	538	broad.mit.edu	37	X	77245376	77245376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:77245376G>C	uc004ecx.3	+	4	1418	c.1258G>C	c.(1258-1260)GAG>CAG	p.E420Q	ATP7A_uc004ecw.2_Missense_Mutation_p.E420Q	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	420	HMA 4.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TGGGACTGTTGAGTATGATCC	0.403		NaN											0	0	0	0.001168	0	6	66				
TBC1D8B	54885	broad.mit.edu	37	X	106083998	106083998	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:106083998G>C	uc004emo.2	+	10	1768	c.1603G>C	c.(1603-1605)GAT>CAT	p.D535H	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D535H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	535	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AATTGAACGTGATTTACGTCG	0.463		NaN											0	0	0	0.001855	0	12	56				
KLHL17	339451	broad.mit.edu	37	1	900368	900368	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:900368G>T	uc001aca.1	+	12	1833	c.1726G>T	c.(1726-1728)GAC>TAC	p.D576Y	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	576	Interaction with F-actin (By similarity).|Kelch 5.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCATGGACGGATGGTT	0.647		NaN											1	0	0.000151284	0.001855	0.000160839	14	10				
PRDM16	63976	broad.mit.edu	37	1	3328010	3328010	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:3328010G>A	uc001akf.2	+	9	1329	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	PRDM16_uc001akc.2_Missense_Mutation_p.A417T|PRDM16_uc001akd.2_Missense_Mutation_p.A417T|PRDM16_uc001ake.2_Missense_Mutation_p.A417T|PRDM16_uc009vlh.2_Missense_Mutation_p.A118T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	417					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCGGATGCACGCCGACTGCCG	0.572		NaN	T	EVI1	MDS|AML								0	0	0	0.004482	0	9	30				
MASP2	10747	broad.mit.edu	37	1	11102931	11102931	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:11102931C>T	uc001aru.2	-	6	910	c.889_splice	c.e6+1	p.A297_splice		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform						complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CACTTGCTCACCTGTGCTCGT	0.547		NaN											0	0	0	0.00632	0	25	92				
C1orf158	93190	broad.mit.edu	37	1	12819302	12819302	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12819302C>G	uc001auh.2	+	3	501	c.285C>G	c.(283-285)ATC>ATG	p.I95M	C1orf158_uc010obe.1_Missense_Mutation_p.I95M	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	95										ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTGATCAGCACCTATG	0.567		NaN											0	0	0	0.01441	0	54	178				
C1orf158	93190	broad.mit.edu	37	1	12820737	12820737	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12820737C>G	uc001auh.2	+	4	654	c.438C>G	c.(436-438)CTC>CTG	p.L146L		NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	146										ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGCAGCTCAAGCAGAGAC	0.527		NaN											0	0	0	0.013537	0	12	57				
PRAMEF11	440560	broad.mit.edu	37	1	12887575	12887575	+	Silent	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12887575T>A	uc001auk.2	-	3	478	c.282A>T	c.(280-282)CCA>CCT	p.P94P		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	94											0						AGTCCTGCACTGGTGTTTTGT	0.498		NaN											0	0	0	0.007413	0	17	265				
CLCNKB	1188	broad.mit.edu	37	1	16372138	16372138	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:16372138G>C	uc001axw.3	+	3	266	c.186G>C	c.(184-186)CTG>CTC	p.L62L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.L62L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	62	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGCCCTGGTCAGCTGTG	0.627		NaN											0	0	0	0.007413	0	17	43				
NBPF1	55672	broad.mit.edu	37	1	16895671	16895671	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:16895671C>T	uc009vos.1	-	23	3399	c.2511G>A	c.(2509-2511)TCG>TCA	p.S837S	NBPF1_uc009vot.1_Silent_p.S295S|NBPF1_uc001ayz.1_Silent_p.S295S|NBPF1_uc010oce.1_Silent_p.S566S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	837	NBPF 4.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGAGAGAGTCGAATAACCTT	0.488		NaN											0	0	0	0.01441	0	49	302				
UBR4	23352	broad.mit.edu	37	1	19491386	19491386	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:19491386G>C	uc001bbi.2	-	32	4422	c.4418C>G	c.(4417-4419)ACA>AGA	p.T1473R	UBR4_uc001bbm.1_Missense_Mutation_p.T684R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1473					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGGCGATGTAGTCATGCG	0.552		NaN											0	0	0	0.009096	0	4	73				
EPHB2	2048	broad.mit.edu	37	1	23236885	23236885	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:23236885C>G	uc009vqj.1	+	14	2658	c.2513C>G	c.(2512-2514)GCC>GGC	p.A838G	EPHB2_uc001bge.2_Missense_Mutation_p.A839G|EPHB2_uc001bgf.2_Missense_Mutation_p.A838G|EPHB2_uc010odu.1_Missense_Mutation_p.A780G	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	838	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTAATCAATGCCATTGAGCAG	0.617		NaN							Hereditary_Prostate_Cancer				0	0	0	0.009096	0	4	57				
MYOM3	127294	broad.mit.edu	37	1	24397687	24397687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:24397687G>C	uc001bin.3	-	25	3233	c.3070C>G	c.(3070-3072)CTT>GTT	p.L1024V	MYOM3_uc001bim.3_Missense_Mutation_p.L681V|MYOM3_uc001bio.2_Missense_Mutation_p.L1024V	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1024										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCAGCCAAAGCCGCACCTCC	0.547		NaN									OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	20				
LDLRAP1	26119	broad.mit.edu	37	1	25891685	25891685	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:25891685G>A	uc001bkl.3	+	8	883	c.769G>A	c.(769-771)GAA>AAA	p.E257K	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.E87K	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	257	AP-2 complex binding.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTGGATGAAGCGTTTTC	0.587		NaN											0	0	0	0.01441	0	56	55				
EIF3I	8668	broad.mit.edu	37	1	32688180	32688180	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:32688180G>C	uc001bur.3	+	3	578	c.45G>C	c.(43-45)CAG>CAC	p.Q15H	C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.Q15H|EIF3I_uc001bus.2_5'UTR	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	15	WD 1.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCATTACGCAGATTAAGTATA	0.597		NaN											0	0	0	0.00333	0	22	72				
DLGAP3	58512	broad.mit.edu	37	1	35370070	35370070	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:35370070C>G	uc001byc.2	-	1	915	c.915G>C	c.(913-915)TCG>TCC	p.S305S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	305					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCGACCCGCCCGAGCGCCCCT	0.657		NaN											0	0	0	0.00333	0	25	29				
TIE1	7075	broad.mit.edu	37	1	43774766	43774766	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:43774766C>T	uc001ciu.2	+	8	1231	c.1152C>T	c.(1150-1152)AGC>AGT	p.S384S	TIE1_uc010okd.1_Silent_p.S384S|TIE1_uc010oke.1_Silent_p.S339S|TIE1_uc009vwq.2_Silent_p.S340S|TIE1_uc010okf.1_Silent_p.S29S|TIE1_uc010okg.1_Silent_p.S29S|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	384	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGGGGCAGCATAGAGCTAC	0.612		NaN											0	0	0	0.00245	0	11	21				
KIF2C	11004	broad.mit.edu	37	1	45205650	45205650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:45205650G>A	uc001cmg.3	+	1	161	c.46G>A	c.(46-48)GCT>ACT	p.A16T	KIF2C_uc010olb.1_Missense_Mutation_p.A16T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	16	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCCGGTCTCGCTATCAAGAT	0.567		NaN											0	0	0	0.01441	0	54	319				
EPS15	2060	broad.mit.edu	37	1	51929378	51929378	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51929378G>A	uc001csq.1	-	7	560	c.468C>T	c.(466-468)CTC>CTT	p.L156L	EPS15_uc009vyz.1_Silent_p.L156L	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	156	EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						ACTTAGAGTTGAGCAACACTG	0.328		NaN	T	MLL	ALL								0	0	0	0.000602	0	5	40				
EPS15	2060	broad.mit.edu	37	1	51934235	51934235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51934235G>C	uc001csq.1	-	5	311	c.219C>G	c.(217-219)TTC>TTG	p.F73L	EPS15_uc009vyz.1_Missense_Mutation_p.F73L	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	73	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						AAGCAACAAAGAATTCCTAAG	0.368		NaN	T	MLL	ALL								0	0	0	0.006214	0	6	21				
GLIS1	148979	broad.mit.edu	37	1	54060429	54060429	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:54060429C>A	uc001cvr.1	-	3	714	c.147G>T	c.(145-147)CTG>CTT	p.L49L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	49					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCTGGAGGCCCAGGCCAGAGC	0.711		NaN											1	0	0.00909568	0.009096	0.00939809	4	18				
WLS	79971	broad.mit.edu	37	1	68620905	68620905	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:68620905G>A	uc001def.1	-	4	814	c.543C>T	c.(541-543)GTC>GTT	p.V181V	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.V179V|WLS_uc001deg.1_Silent_p.V90V|WLS_uc009wbf.1_Silent_p.V136V	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	181	Lumenal (Potential).|Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						TGAAAGGAAGGACATCACATT	0.453		NaN											0	0	0	0.005524	0	38	40				
TTLL7	79739	broad.mit.edu	37	1	84387005	84387005	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:84387005T>G	uc001djc.2	-	11	1611	c.1215A>C	c.(1213-1215)TCA>TCC	p.S405S	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	405					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCCTTTTAATTGAATTTTGAC	0.413		NaN											0	0	0	0.00499	0	17	63				
BRDT	676	broad.mit.edu	37	1	92446894	92446894	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:92446894T>G	uc001dok.3	+	11	2169	c.1820T>G	c.(1819-1821)CTG>CGG	p.L607R	BRDT_uc001dol.3_Missense_Mutation_p.L607R|BRDT_uc010osz.1_Missense_Mutation_p.L611R|BRDT_uc009wdf.2_Missense_Mutation_p.L534R|BRDT_uc010ota.1_Missense_Mutation_p.L561R|BRDT_uc010otb.1_Missense_Mutation_p.L561R|BRDT_uc001dom.3_Missense_Mutation_p.L607R	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	607	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGCGGTTACTGGATGTTAAT	0.274		NaN											0	0	0	0.006214	0	9	42				
AMIGO1	57463	broad.mit.edu	37	1	110050899	110050899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:110050899G>C	uc001dxx.3	-	2	1018	c.636C>G	c.(634-636)ATC>ATG	p.I212M		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	212	Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCCATTCTTGATCCAGGCCG	0.532		NaN											0	0	0	0.01441	0	52	28				
ST7L	54879	broad.mit.edu	37	1	113161719	113161720	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:113161719_113161720CC>AG	uc001ecd.2	-	1	321_322	c.16_17GG>CT	c.(16-18)GGC>CTC	p.G6L	ST7L_uc001ecc.2_5'Flank|ST7L_uc010owg.1_Missense_Mutation_p.G6L|ST7L_uc010owh.1_Missense_Mutation_p.G6L|ST7L_uc001ece.2_Missense_Mutation_p.G6L|ST7L_uc001ecf.2_Missense_Mutation_p.G6L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_5'Flank|ST7L_uc001ech.2_Missense_Mutation_p.G6L|ST7L_uc001eci.2_Missense_Mutation_p.G6L|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.G6L|CAPZA1_uc001ecj.1_5'Flank	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	6					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCCACGCCGCCACGGTCC	0.683		NaN											0	0	0	0.004672	0	8	5				
MTMR11	10903	broad.mit.edu	37	1	149903256	149903256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:149903256C>T	uc001etl.3	-	13	1437	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K	MTMR11_uc001etm.1_Missense_Mutation_p.E324K|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.R222Q	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	396	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCGGGCTTCGGGGGCTGAA	0.572		NaN											0	0	0	0.005443	0	27	55				
TCHH	7062	broad.mit.edu	37	1	152081550	152081550	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152081550C>G	uc001ezp.2	-	2	4143	c.4143G>C	c.(4141-4143)CAG>CAC	p.Q1381H	TCHH_uc009wne.1_Missense_Mutation_p.Q1381H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1381	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGCAGCCGCTGTTCCTCCT	0.602		NaN											0	0	0	0.008871	0	21	242				
HRNR	388697	broad.mit.edu	37	1	152193791	152193791	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152193791G>T	uc001ezt.1	-	3	390	c.314C>A	c.(313-315)ACT>AAT	p.T105N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	105	1.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTGAGTGTCATCTCT	0.413		NaN											1	0	7.48243e-07	0.006214	8.32755e-07	10	124				
FLG	2312	broad.mit.edu	37	1	152285219	152285220	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152285219_152285220GG>CT	uc001ezu.1	-	3	2178_2179	c.2142_2143CC>AG	c.(2140-2145)CTCCAG>CTAGAG	p.Q715E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	715	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGACTGGAGCTGGTGGC	0.569		NaN							Ichthyosis				0	0	0	0.004672	0	526	360				
FLG2	388698	broad.mit.edu	37	1	152327473	152327473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152327473C>T	uc001ezw.3	-	3	2862	c.2789G>A	c.(2788-2790)AGT>AAT	p.S930N	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	930	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGACTTGAGCCAGA	0.478		NaN											0	0	0	0.004289	0	33	473				
LCE1C	353133	broad.mit.edu	37	1	152777745	152777745	+	Silent	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152777745A>T	uc001fap.1	-	2	261	c.210T>A	c.(208-210)TCT>TCA	p.S70S		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	70	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTCCCCCAGAACTGCAGC	0.682		NaN											0	0	0	0.013537	0	12	142				
NUP210L	91181	broad.mit.edu	37	1	154018563	154018563	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154018563T>G	uc001fdw.2	-	27	3750	c.3678A>C	c.(3676-3678)CTA>CTC	p.L1226L	NUP210L_uc009woq.2_Silent_p.L135L|NUP210L_uc010peh.1_Silent_p.L1226L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1226						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCCTGGGCACTAGATCCAATA	0.373		NaN											0	0	0	0.009096	0	4	81				
TPM3	7170	broad.mit.edu	37	1	154130139	154130139	+	Silent	SNP	G	G	C	rs1051220		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154130139G>C	uc001fdy.1	-	8	853	c.723C>G	c.(721-723)ACC>ACG	p.T241T	TPM3_uc001fdx.1_Silent_p.T226T|TPM3_uc010pei.1_Silent_p.T151T|TPM3_uc001fdz.1_3'UTR|TPM3_uc001fea.1_Silent_p.T241T|TPM3_uc001feb.1_3'UTR|TPM3_uc010pej.1_Silent_p.T174T|TPM3_uc009wor.2_Intron|NUP210L_uc001fdw.2_5'Flank|NUP210L_uc010peh.1_5'Flank	NM_001043351	NP_001036816	P06753	TPM3_HUMAN	tropomyosin 3 isoform 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGTCAAGCAGGGTCTGGTCCA	0.532		NaN	T	NTRK1|ALK	papillary thyroid|ALCL								0	0	0	0.006122	0	18	217				
CHRNB2	1141	broad.mit.edu	37	1	154542804	154542804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154542804C>G	uc001ffg.2	+	4	590	c.326C>G	c.(325-327)TCC>TGC	p.S109C		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	109	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CGGCTCCCTTCCAAACACATC	0.532		NaN											0	0	0	0.004672	0	3	23				
CHRNB2	1141	broad.mit.edu	37	1	154544007	154544007	+	Missense_Mutation	SNP	C	C	G	rs71628622		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544007C>G	uc001ffg.2	+	5	972	c.708C>G	c.(706-708)TTC>TTG	p.F236L		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	236	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGCCGCTCTTCTACACCATCA	0.577		NaN											0	0	0	0.013537	0	10	130				
CHRNB2	1141	broad.mit.edu	37	1	154544202	154544202	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544202C>T	uc001ffg.2	+	5	1167	c.903C>T	c.(901-903)CTC>CTT	p.L301L		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	301	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCAAGTACCTCATGTTCACCA	0.627		NaN											0	0	0	0.00308	0	8	102				
GBA	2629	broad.mit.edu	37	1	155207267	155207267	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155207267C>A	uc001fjh.2	-	7	1014	c.864G>T	c.(862-864)CTG>CTT	p.L288L	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.L175L|GBA_uc010pfx.1_Silent_p.L239L|GBA_uc001fji.2_Silent_p.L288L|GBA_uc001fjj.2_Silent_p.L288L|GBA_uc001fjk.2_Silent_p.L288L|GBA_uc001fjl.2_Silent_p.L288L|GBA_uc010pfy.1_Silent_p.L201L|GBA_uc009wqk.1_Silent_p.L201L	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	288					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGGTGAAGCCCAGGCACTGGA	0.547		NaN							Gaucher_disease_type_I				1	0	1.60099e-16	0.004878	1.92499e-16	34	23				
GBA	2629	broad.mit.edu	37	1	155209446	155209446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155209446C>A	uc001fjh.2	-	4	565	c.415G>T	c.(415-417)GCC>TCC	p.A139S	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.A139S|GBA_uc001fjj.2_Missense_Mutation_p.A139S|GBA_uc001fjk.2_Missense_Mutation_p.A139S|GBA_uc001fjl.2_Missense_Mutation_p.A139S|GBA_uc010pfy.1_Missense_Mutation_p.A52S|GBA_uc009wqk.1_Missense_Mutation_p.A52S	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	139					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAATTTTGGGCAGGGGGTGAC	0.448		NaN							Gaucher_disease_type_I				1	0	1.37522e-17	0.007413	1.66344e-17	16	46				
INSRR	3645	broad.mit.edu	37	1	156823630	156823630	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156823630A>G	uc010pht.1	-	2	805	c.551T>C	c.(550-552)CTG>CCG	p.L184P	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.L184P	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	184					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGCACCCAGCACACCAGG	0.637		NaN											0	0	0	0.001168	0	6	57				
NTRK1	4914	broad.mit.edu	37	1	156845891	156845892	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156845891_156845892CC>AT	uc001fqh.1	+	13	1577_1578	c.1521_1522CC>AT	c.(1519-1524)CGCCGG>CGATGG	p.R508W	NTRK1_uc001fqf.1_Missense_Mutation_p.R472W|NTRK1_uc009wsi.1_Missense_Mutation_p.R207W|NTRK1_uc001fqi.1_Missense_Mutation_p.R502W|NTRK1_uc009wsk.1_Missense_Mutation_p.R505W	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	508	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACATCAAGCGCCGGGACATCGT	0.609		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.004672	0	11	116				
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:157805906C>T	uc001frk.3	-	3	238	c.95G>A	c.(94-96)CGC>CAC	p.R32H		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTCACAGCGGTGGAGGCC	0.622		NaN											0	0	0	0.004482	0	9	107				
OR6Y1	391112	broad.mit.edu	37	1	158517676	158517676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158517676G>C	uc010pil.1	-	1	220	c.220C>G	c.(220-222)CTG>GTG	p.L74V		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CACATCTCCAGGAAGGAGAGG	0.463		NaN											0	0	0	0.001984	0	7	88				
SPTA1	6708	broad.mit.edu	37	1	158650449	158650449	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158650449T>C	uc001fst.1	-	5	801	c.602A>G	c.(601-603)GAA>GGA	p.E201G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	201	Spectrin 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTGGAAGTCTTCAAATTTCTT	0.473		NaN											0	0	0	0.009096	0	4	141				
FCER1A	2205	broad.mit.edu	37	1	159273848	159273848	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159273848C>T	uc001ftq.2	+	4	306	c.207C>T	c.(205-207)AGC>AGT	p.S69S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	69	Extracellular (Potential).|Ig-like 1.					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAATGGCAGCCTTTCAGAAG	0.368		NaN											0	0	0	0.01441	0	67	37				
CCDC19	25790	broad.mit.edu	37	1	159854250	159854250	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159854250T>A	uc001fui.2	-	7	891	c.873A>T	c.(871-873)GAA>GAT	p.E291D	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E206D|CCDC19_uc001ful.2_Missense_Mutation_p.E206D|CCDC19_uc009wtc.1_Missense_Mutation_p.E277D	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	291	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTGGAGCTGTTCCATATATT	0.522		NaN											0	0	0	0.003954	0	23	285				
IGSF9	57549	broad.mit.edu	37	1	159897153	159897153	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159897153T>C	uc001fur.2	-	21	3720	c.3522A>G	c.(3520-3522)GAA>GAG	p.E1174E	IGSF9_uc001fuq.2_Silent_p.E1158E|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.E320E	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	1174	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTGGCCTGTTCGGGGTGGG	0.602		NaN											0	0	0	0.01441	0	90	61				
SDHC	6391	broad.mit.edu	37	1	161293414	161293414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:161293414C>T	uc001gag.2	+	2	61	c.31C>T	c.(31-33)CGT>TGT	p.R11C	SDHC_uc001gai.2_Missense_Mutation_p.R11C|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Missense_Mutation_p.R11C|SDHC_uc001gah.2_Missense_Mutation_p.R11C	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	11					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACACGTTGGTCGTCATTGCCT	0.328		NaN	Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				0	0	0	0.009096	0	4	66				
PAPPA2	60676	broad.mit.edu	37	1	176740114	176740114	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:176740114T>A	uc001gkz.2	+	17	5677	c.4513T>A	c.(4513-4515)TGG>AGG	p.W1505R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1505	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						ACTGAGCCCATGGCTGACATG	0.458		NaN											0	0	0	0.000602	0	5	73				
TOR3A	64222	broad.mit.edu	37	1	179051393	179051393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:179051393G>A	uc001gmd.2	+	1	282	c.130G>A	c.(130-132)GGC>AGC	p.G44S	TOR3A_uc010pnd.1_5'UTR	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	44					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1						GGCCTGGCCGGGCTTCCAGCG	0.726		NaN											0	0	0	0.000602	0	4	7				
CEP350	9857	broad.mit.edu	37	1	180012207	180012207	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:180012207G>T	uc001gnt.2	+	20	4762	c.4379G>T	c.(4378-4380)AGA>ATA	p.R1460I	CEP350_uc009wxl.2_Missense_Mutation_p.R1459I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1460						centrosome|nucleus|spindle				ovary(4)	4						GAGTTGACTAGAACTCATATC	0.373		NaN											1	0	9.70103e-10	0.008291	1.12298e-09	10	194				
IER5	51278	broad.mit.edu	37	1	181058781	181058781	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:181058781A>C	uc001got.3	+	1	1144	c.743A>C	c.(742-744)CAG>CCG	p.Q248P		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	248										pancreas(1)	1						AACTTAGAGCAGCCGCCGAGT	0.478		NaN											0	0	0	0.001168	0	6	34				
DHX9	1660	broad.mit.edu	37	1	182823164	182823164	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:182823164G>A	uc001gpr.2	+	6	641	c.478_splice	c.e6-1	p.T160_splice	DHX9_uc001gps.2_Splice_Site	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9						CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TGATTCTACAGACTCTAGAAT	0.328		NaN											0	0	0	0.001168	0	5	144				
HMCN1	83872	broad.mit.edu	37	1	186062301	186062301	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186062301G>C	uc001grq.1	+	65	10152	c.9923G>C	c.(9922-9924)GGA>GCA	p.G3308A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3308	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACATTTATGGAGCTCTTACA	0.383		NaN											0	0	0	0.009096	0	4	125				
RGS18	64407	broad.mit.edu	37	1	192127861	192127861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:192127861G>A	uc001gsg.2	+	1	270	c.94G>A	c.(94-96)GAA>AAA	p.E32K		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	32					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						AGGAAAAGAAGAAACAAGCAA	0.289		NaN											0	0	0	0.009096	0	3	53				
ASPM	259266	broad.mit.edu	37	1	197073873	197073873	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:197073873G>A	uc001gtu.2	-	18	4765	c.4508C>T	c.(4507-4509)GCC>GTC	p.A1503V	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1503					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TAACTTTTGGGCTTGAAAGCA	0.323		NaN											0	0	0	0.008291	0	11	81				
PTPRC	5788	broad.mit.edu	37	1	198719627	198719627	+	Missense_Mutation	SNP	T	T	A	rs146768191		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:198719627T>A	uc001gur.1	+	29	3253	c.3073T>A	c.(3073-3075)TGG>AGG	p.W1025R	PTPRC_uc001gus.1_Missense_Mutation_p.W977R|PTPRC_uc001gut.1_Missense_Mutation_p.W864R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1025	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAAGAGCTACTGGAAACCTGA	0.383		NaN											0	0	0	0.006214	0	6	74				
NR5A2	2494	broad.mit.edu	37	1	200017817	200017817	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:200017817G>A	uc001gvb.2	+	5	1187	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	NR5A2_uc001gvc.2_Silent_p.Q281Q|NR5A2_uc009wzh.2_Silent_p.Q287Q|NR5A2_uc010pph.1_Silent_p.Q255Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	327					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					CCTATTTGCAGCAAGAGCAGG	0.493		NaN											0	0	0	0.003163	0	15	83				
FAM71A	149647	broad.mit.edu	37	1	212798782	212798782	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:212798782C>A	uc001hjk.2	+	1	967	c.563C>A	c.(562-564)CCA>CAA	p.P188Q	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	188										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTGGCATTCCAGCTGAAGAC	0.532		NaN											1	0	1.08611e-07	0.010729	1.22225e-07	12	74				
DUSP10	11221	broad.mit.edu	37	1	221879668	221879668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:221879668C>A	uc001hmy.1	-	3	1134	c.952G>T	c.(952-954)GAG>TAG	p.E318*	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	318					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		TCAGCGTTCTCGATGTCAGGG	0.632		NaN											1	0	2.7689e-08	0.001984	3.15998e-08	6	167				
OBSCN	84033	broad.mit.edu	37	1	228471295	228471295	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:228471295G>A	uc009xez.1	+	33	8873	c.8829G>A	c.(8827-8829)GCG>GCA	p.A2943A	OBSCN_uc001hsn.2_Silent_p.A2943A|OBSCN_uc001hsp.1_Silent_p.A642A|OBSCN_uc001hsq.1_Silent_p.A199A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2943	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCACCCCGCGGCCACAGTGA	0.632		NaN											0	0	0	0.004672	0	3	37				
ITIH5	80760	broad.mit.edu	37	10	7608067	7608068	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:7608067_7608068GG>TT	uc001ijq.2	-	13	2531_2532	c.2452_2453CC>AA	c.(2452-2454)CCC>AAC	p.P818N	ITIH5_uc001ijp.2_Missense_Mutation_p.P604N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	818					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TCGCTGGAAGGGCGCCGGCTTT	0.599		NaN											0	0	0	0.004672	0	31	65				
ARHGAP21	57584	broad.mit.edu	37	10	24908838	24908838	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:24908838A>C	uc001isb.2	-	9	2473	c.1986T>G	c.(1984-1986)AAT>AAG	p.N662K	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N662K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N497K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N652K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	661					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ATGTCTGCTGATTCAACAGAC	0.478		NaN											0	0	0	0.004672	0	3	92				
MYO3A	53904	broad.mit.edu	37	10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:26455034G>A	uc001isn.2	+	27	3398	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	MYO3A_uc009xko.1_Missense_Mutation_p.R1013H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GAGGAGCCCCGCATGAGCCCT	0.448		NaN											0	0	0	0.013537	0	12	295				
WAC	51322	broad.mit.edu	37	10	28824669	28824669	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:28824669T>C	uc001iuf.2	+	3	342	c.257T>C	c.(256-258)GTT>GCT	p.V86A	WAC_uc001iud.2_Missense_Mutation_p.V41A|WAC_uc001iue.2_Splice_Site_p.R40_splice|WAC_uc009xlb.2_Missense_Mutation_p.V41A|WAC_uc001iug.2_Missense_Mutation_p.V86A|WAC_uc001iuh.2_Missense_Mutation_p.V41A	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	86					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						ACTCACAGAGTTAGAGAGAGG	0.393		NaN											0	0	0	0.003954	0	22	42				
DLG5	9231	broad.mit.edu	37	10	79576344	79576344	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:79576344G>T	uc001jzk.2	-	20	4060	c.3990C>A	c.(3988-3990)GTC>GTA	p.V1330V	DLG5_uc001jzi.2_Silent_p.V85V|DLG5_uc001jzj.2_Silent_p.V745V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.V934V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1330					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACGCGGGGTTGACAGCGATTC	0.617		NaN											1	0	0.000602214	0.000602	0.000628668	5	71				
MAT1A	4143	broad.mit.edu	37	10	82043718	82043718	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:82043718C>T	uc001kbw.2	-	3	501	c.246G>A	c.(244-246)GTG>GTA	p.V82V		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	82					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCCTCACCACCCGCTGGT	0.592		NaN											0	0	0	0.001984	0	7	29				
CRTAC1	55118	broad.mit.edu	37	10	99696115	99696115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:99696115C>G	uc001kou.1	-	3	589	c.233G>C	c.(232-234)GGA>GCA	p.G78A	CRTAC1_uc001kov.2_Missense_Mutation_p.G67A|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	78	FG-GAP 1; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGGTTGGGTCCATTGTACCT	0.657		NaN											0	0	0	0.001984	0	6	19				
ADAM12	8038	broad.mit.edu	37	10	127737960	127737960	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:127737960G>C	uc001ljk.2	-	16	2201	c.1788C>G	c.(1786-1788)ACC>ACG	p.T596T	ADAM12_uc010qul.1_Silent_p.T547T|ADAM12_uc001ljm.2_Silent_p.T596T|ADAM12_uc001ljn.2_Silent_p.T593T|ADAM12_uc001ljl.3_Silent_p.T593T	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	596	Extracellular (Potential).|Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AAACGGCATTGGTACCAATGA	0.532		NaN											0	0	0	0.00245	0	14	82				
ADAM12	8038	broad.mit.edu	37	10	128018989	128018989	+	Missense_Mutation	SNP	C	C	T	rs150357794		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:128018989C>T	uc001ljk.2	-	2	591	c.178G>A	c.(178-180)GAC>AAC	p.D60N	ADAM12_uc010qul.1_Missense_Mutation_p.D60N|ADAM12_uc001ljm.2_Missense_Mutation_p.D60N|ADAM12_uc001ljn.2_Missense_Mutation_p.D60N|ADAM12_uc001ljl.3_Missense_Mutation_p.D60N	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	60					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCTTGGAGTCGAAGCTCTTC	0.473		NaN											0	0	0	0.00308	0	6	89				
SIGIRR	59307	broad.mit.edu	37	11	408113	408113	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:408113G>C	uc001lpd.2	-	4	630	c.300C>G	c.(298-300)ATC>ATG	p.I100M	SIGIRR_uc001lpf.2_Missense_Mutation_p.I100M|SIGIRR_uc001lpe.1_Missense_Mutation_p.I100M|SIGIRR_uc001lpg.2_Missense_Mutation_p.I100M	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	100	Ig-like C2-type.|Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTTCTGGATGGAGCAGG	0.587		NaN											0	0	0	0.004656	0	24	42				
OR56A4	120793	broad.mit.edu	37	11	6023399	6023399	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6023399A>C	uc010qzv.1	-	1	980	c.980T>G	c.(979-981)GTC>GGC	p.V327G		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGGGGACATCTGGAGG	0.517		NaN											0	0	0	0.000602	0	5	14				
OR56B4	196335	broad.mit.edu	37	11	6129720	6129720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6129720G>T	uc010qzx.1	+	1	712	c.712G>T	c.(712-714)GAA>TAA	p.E238*		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	238	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTCAGCAGAAGCAATGTC	0.493		NaN											1	0	1.28384e-07	0.012319	1.44075e-07	23	24				
FAM160A2	84067	broad.mit.edu	37	11	6244846	6244846	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6244846G>A	uc001mcl.3	-	3	1130	c.771C>T	c.(769-771)TTC>TTT	p.F257F	FAM160A2_uc001mck.3_Silent_p.F257F|FAM160A2_uc001mcm.2_Silent_p.F257F	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	257					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TAACCGGGCAGAAGTAAGAGT	0.597		NaN											0	0	0	0.007413	0	18	86				
DCHS1	8642	broad.mit.edu	37	11	6649910	6649910	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6649910C>T	uc001mem.1	-	13	5723	c.5313G>A	c.(5311-5313)ATG>ATA	p.M1771I		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1771	Cadherin 17.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCCGAAGCATGGTAAGGG	0.577		NaN											0	0	0	0.003163	0	13	20				
NAV2	89797	broad.mit.edu	37	11	19970352	19970352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:19970352C>T	uc010rdm.1	+	11	2801	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W	NAV2_uc001mpp.2_Missense_Mutation_p.R727W|NAV2_uc001mpr.3_Missense_Mutation_p.R791W	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	814						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GTCCAGCCCTCGGCTCCAAGC	0.592		NaN											0	0	0	0.009096	0	4	17				
CD5	921	broad.mit.edu	37	11	60885820	60885820	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:60885820T>C	uc009ynk.2	+	3	371	c.268T>C	c.(268-270)TTA>CTA	p.L90L		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	90	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGGGGTGCCCTTAAGCCTTGG	0.582		NaN											0	0	0	0.000602	0	5	175				
AHNAK	79026	broad.mit.edu	37	11	62285078	62285078	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:62285078G>C	uc001ntl.2	-	5	17111	c.16811C>G	c.(16810-16812)TCT>TGT	p.S5604C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5604	Gly-rich.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTTGAGAGCAGAGGAGACTTG	0.537		NaN											0	0	0	0.01441	0	54	132				
SAPS3	55291	broad.mit.edu	37	11	68370851	68370851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:68370851G>T	uc001onw.2	+	22	2608	c.2341G>T	c.(2341-2343)GAG>TAG	p.E781*	SAPS3_uc001onv.2_Nonsense_Mutation_p.E781*|SAPS3_uc001ony.3_Nonsense_Mutation_p.E752*|SAPS3_uc001onx.2_Nonsense_Mutation_p.E775*|SAPS3_uc009ysh.2_Nonsense_Mutation_p.E701*|SAPS3_uc001onu.2_Nonsense_Mutation_p.E701*|SAPS3_uc010rqc.1_Nonsense_Mutation_p.E549*|SAPS3_uc010rqd.1_Nonsense_Mutation_p.E464*|SAPS3_uc001onz.2_Nonsense_Mutation_p.E109*|SAPS3_uc001ooa.2_Nonsense_Mutation_p.E231*	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	781					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TGACGGAGAGGAGGATGCAGA	0.542		NaN											1	0	3.7963e-18	0.00333	4.63356e-18	24	35				
PAAF1	80227	broad.mit.edu	37	11	73620513	73620513	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:73620513G>A	uc001ouk.1	+	7	636	c.602G>A	c.(601-603)CGA>CAA	p.R201Q	PAAF1_uc001oul.1_Missense_Mutation_p.R184Q|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.R184Q	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	201	WD 3.				interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					GGGACAGCACGACTTTGGGAT	0.517		NaN											0	0	0	0.010729	0	10	65				
AMOTL1	154810	broad.mit.edu	37	11	94602363	94602363	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:94602363G>T	uc001pfb.2	+	12	2659	c.2489G>T	c.(2488-2490)GGA>GTA	p.G830V	AMOTL1_uc001pfc.2_Missense_Mutation_p.G780V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	830						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTGCCCTCAGGATTGCTGCTG	0.483		NaN											1	0	1.024e-07	0.000602	1.15881e-07	3	19				
KIAA1826	84437	broad.mit.edu	37	11	105880645	105880645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:105880645G>C	uc001piy.2	-	3	828	c.655C>G	c.(655-657)CTG>GTG	p.L219V	KIAA1826_uc001piz.2_Missense_Mutation_p.L219V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	219	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TCGATATCCAGTCGTCGTTTT	0.443		NaN											0	0	0	0.009096	0	4	101				
HSPB2	3316	broad.mit.edu	37	11	111784284	111784284	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:111784284G>T	uc001pmg.2	+	2	308	c.214G>T	c.(214-216)GGC>TGC	p.G72C	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	72					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCTCAGTGAGGGCAAGTTCCA	0.637		NaN											1	0	3.27435e-08	0.00245	3.71584e-08	15	76				
FAM55D	54827	broad.mit.edu	37	11	114441787	114441787	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:114441787A>G	uc001ppc.2	-	6	1689	c.1508T>C	c.(1507-1509)TTC>TCC	p.F503S	FAM55D_uc001ppd.2_Missense_Mutation_p.F219S	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	503						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GAGATCCTGGAAAATGTCCTT	0.363		NaN											0	0	0	0.004672	0	3	64				
TAGLN	6876	broad.mit.edu	37	11	117073833	117073833	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:117073833T>C	uc001pqm.2	+	2	225	c.104T>C	c.(103-105)ATA>ACA	p.I35T	uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.I35T|TAGLN_uc001pqo.2_Missense_Mutation_p.I35T|TAGLN_uc001pqp.2_Missense_Mutation_p.I35T|uc001pqq.1_5'Flank	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	35	CH.				muscle organ development	cytoplasm	actin binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GAGTGGATCATAGTGCAGTGT	0.612		NaN											0	0	0	0.00245	0	13	10				
MLL	4297	broad.mit.edu	37	11	118374909	118374909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:118374909G>C	uc001pta.2	+	27	8316	c.8293G>C	c.(8293-8295)GAA>CAA	p.E2765Q	MLL_uc001ptb.2_Missense_Mutation_p.E2768Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2765					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGGGGAGAAAGAACATGTCAC	0.403		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.001168	0	5	64		Valid		
HINFP	25988	broad.mit.edu	37	11	119003661	119003661	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:119003661C>T	uc001pvp.2	+	9	1152	c.963C>T	c.(961-963)TTC>TTT	p.F321F	HINFP_uc001pvq.2_Silent_p.F321F|HINFP_uc001pvr.2_Silent_p.F74F	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	321	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ACTGCACCTTCAGTGCCCGAT	0.522		NaN											0	0	0	0.01441	0	57	38				
OR8B12	219858	broad.mit.edu	37	11	124413346	124413346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:124413346C>G	uc010sam.1	-	1	205	c.205G>C	c.(205-207)GAT>CAT	p.D69H		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AAACAGAAATCTATTAAAGAG	0.453		NaN											0	0	0	0.008871	0	20	15				
PKNOX2	63876	broad.mit.edu	37	11	125298937	125298937	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:125298937G>T	uc001qbu.2	+	11	1280	c.966G>T	c.(964-966)AGG>AGT	p.R322S	PKNOX2_uc010saz.1_Missense_Mutation_p.R293S|PKNOX2_uc010sba.1_Missense_Mutation_p.R293S|PKNOX2_uc010sbb.1_Missense_Mutation_p.R258S|PKNOX2_uc001qbv.2_Missense_Mutation_p.R87S	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	322	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATGAGAAGAGGCAGATCGCAG	0.597		NaN									OREG0021475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.35478e-16	0.003163	4.02175e-16	14	17				
ARHGAP32	9743	broad.mit.edu	37	11	128844494	128844494	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:128844494A>C	uc009zcp.2	-	20	2556	c.2556T>G	c.(2554-2556)TCT>TCG	p.S852S	ARHGAP32_uc009zcq.1_Silent_p.S812S|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Silent_p.S503S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	852					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						AGACAGGTTCAGAGCTTGCTG	0.443		NaN											0	0	0	0.01441	0	55	59				
OPCML	4978	broad.mit.edu	37	11	132290160	132290160	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:132290160T>A	uc001qgs.2	-	7	1015	c.965A>T	c.(964-966)AAC>ATC	p.N322I	OPCML_uc001qgu.2_Missense_Mutation_p.N315I|OPCML_uc010sck.1_Missense_Mutation_p.N331I|OPCML_uc001qgt.2_Missense_Mutation_p.N321I|OPCML_uc010scl.1_Missense_Mutation_p.N281I	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	322					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGAGGCCGAGTTTACACCATC	0.502		NaN											0	0	0	0.001984	0	7	46				
KDM5A	5927	broad.mit.edu	37	12	416853	416853	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:416853G>A	uc001qif.1	-	23	4060	c.3697C>T	c.(3697-3699)CTT>TTT	p.L1233F	KDM5A_uc001qie.1_Missense_Mutation_p.L1233F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1233					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						AACTTCTGAAGGGATACCAGG	0.527		NaN	T 	NUP98	AML								0	0	0	0.010504	0	20	48				
WNK1	65125	broad.mit.edu	37	12	936296	936296	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:936296C>G	uc001qio.3	+	3	1528	c.1021C>G	c.(1021-1023)CGA>GGA	p.R341G	WNK1_uc001qin.2_Missense_Mutation_p.R341G|WNK1_uc001qip.3_Missense_Mutation_p.R341G	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	341	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTCATACTCGAACTCCACC	0.438		NaN											0	0	0	0.007413	0	18	228				
LRTM2	654429	broad.mit.edu	37	12	1943830	1943830	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:1943830G>A	uc001qjt.2	+	5	1862	c.1056G>A	c.(1054-1056)CTG>CTA	p.L352L	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.L352L|LRTM2_uc010sdx.1_Silent_p.L352L|LRTM2_uc001qjv.2_Silent_p.L114L	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	352	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCCAGCCCCTGATGGGGGACC	0.652		NaN											0	0	0	0.008291	0	8	82				
C12orf60	144608	broad.mit.edu	37	12	14976352	14976352	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:14976352C>G	uc001rcj.3	+	2	687	c.483C>G	c.(481-483)ACC>ACG	p.T161T		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	161										ovary(1)|central_nervous_system(1)	2						CAGAAGACACCAAAGAGCAAT	0.413		NaN											0	0	0	0.004656	0	25	48				
FGD4	121512	broad.mit.edu	37	12	32760950	32760950	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:32760950G>T	uc001rkz.2	+	8	1530	c.1053G>T	c.(1051-1053)CGG>CGT	p.R351R	FGD4_uc001rlc.2_Silent_p.R436R|FGD4_uc001rky.2_Silent_p.R103R|FGD4_uc001rla.2_Silent_p.R7R|FGD4_uc010ske.1_Silent_p.R463R|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	351	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTGTTCAGCGGATTCCCCGGT	0.378		NaN											1	0	4.0181e-32	0.01441	5.02574e-32	49	131				
MLL2	8085	broad.mit.edu	37	12	49444319	49444319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49444319C>A	uc001rta.3	-	11	3052	c.3052G>T	c.(3052-3054)GAG>TAG	p.E1018*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1018	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGAAGGGGCTCCATCAGGATG	0.612		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	1.10513e-12	0.014323	1.30548e-12	21	32		Valid		
LMBR1L	55716	broad.mit.edu	37	12	49491848	49491848	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49491848G>A	uc001rth.3	-	16	1623	c.1281C>T	c.(1279-1281)TTC>TTT	p.F427F	LMBR1L_uc001rtg.3_Silent_p.F422F|LMBR1L_uc001rti.3_Silent_p.F407F	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	427	Extracellular (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						CCAGCCAGTTGAAGCGTCCAA	0.572		NaN									OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	29	106				
DIP2B	57609	broad.mit.edu	37	12	51138369	51138369	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51138369G>T	uc001rwv.2	+	38	4635	c.4479_splice	c.e38-1	p.C1493_splice	DIP2B_uc009zlt.2_Splice_Site_p.C923_splice	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B							nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGAAATTTCAGTGCCGTGTTC	0.468		NaN											1	0	5.2432e-18	0.01441	6.38028e-18	42	42				
CSRNP2	81566	broad.mit.edu	37	12	51461550	51461550	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51461550G>C	uc001rxu.1	-	4	912	c.614C>G	c.(613-615)GCC>GGC	p.A205G		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	205					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGGCGGATGGCTCGAAGTTC	0.572		NaN											0	0	0	0.001168	0	5	61				
KRT76	51350	broad.mit.edu	37	12	53170846	53170846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53170846C>T	uc001sax.2	-	1	284	c.230G>A	c.(229-231)CGG>CAG	p.R77Q		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	77	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						GCCTCCAGCCCGGGAGCTGCC	0.428		NaN											0	0	0	0.00499	0	16	153				
KRT79	338785	broad.mit.edu	37	12	53228038	53228038	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53228038A>G	uc001sbb.2	-	1	40	c.7T>C	c.(7-9)TCC>CCC	p.S3P		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	3	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GAGACGGAGGACCTCATAGCT	0.612		NaN											0	0	0	0.004482	0	6	28				
MYO1A	4640	broad.mit.edu	37	12	57423361	57423361	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:57423361C>T	uc001smw.3	-	26	2978	c.2735G>A	c.(2734-2736)CGG>CAG	p.R912Q	MYO1A_uc010sqz.1_Missense_Mutation_p.R750Q|MYO1A_uc009zpd.2_Missense_Mutation_p.R912Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	912					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						GAGGAGAATCCGAGAAGAAGT	0.552		NaN											0	0	0	0.001168	0	6	62				
LRIG3	121227	broad.mit.edu	37	12	59274438	59274438	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:59274438C>T	uc001sqr.2	-	13	1972	c.1726G>A	c.(1726-1728)GAG>AAG	p.E576K	LRIG3_uc009zqh.2_Missense_Mutation_p.E516K|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	576	Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TATTTCCCCTCACTGGCAAAT	0.468		NaN											0	0	0	0.006214	0	9	35				
C12orf26	84190	broad.mit.edu	37	12	82793112	82793112	+	Missense_Mutation	SNP	C	C	T	rs141543492		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:82793112C>T	uc001szq.2	+	4	1091	c.1070C>T	c.(1069-1071)TCA>TTA	p.S357L		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	357											0						AATATATATTCACCTTTAACC	0.318		NaN											0	0	0	0.007413	0	20	24				
C12orf50	160419	broad.mit.edu	37	12	88420329	88420329	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:88420329G>T	uc001tam.1	-	3	237	c.69C>A	c.(67-69)ATC>ATA	p.I23I	C12orf50_uc001tan.2_Silent_p.I77I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	23										skin(2)|ovary(1)	3						AGATACAGCTGATCTTCACAC	0.373		NaN											1	0	1.12685e-05	0.004482	1.22708e-05	9	46				
CCDC38	120935	broad.mit.edu	37	12	96266046	96266046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:96266046C>G	uc001tek.1	-	14	1705	c.1471G>C	c.(1471-1473)GAA>CAA	p.E491Q		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	491										skin(1)	1						TGCCGCCATTCTTTCTGTTTC	0.403		NaN											0	0	0	0.00333	0	22	133				
ACAD10	80724	broad.mit.edu	37	12	112174762	112174762	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112174762C>T	uc001tsq.2	+	12	1868	c.1668C>T	c.(1666-1668)TTC>TTT	p.F556F	ACAD10_uc001tsp.2_Silent_p.F556F|ACAD10_uc009zvx.2_Silent_p.F587F|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	556							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTTCCTTTTTCCGTGTGGCTG	0.527		NaN											0	0	0	0.003755	0	33	32				
C12orf51	283450	broad.mit.edu	37	12	112605677	112605677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112605677G>A	uc009zwc.2	-	64	11005	c.10987C>T	c.(10987-10989)CAG>TAG	p.Q3663*		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GAGGAACTCTGCAGCTCCTTA	0.642		NaN											0	0	0	0.001855	0	12	51				
IQCD	115811	broad.mit.edu	37	12	113633634	113633634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:113633634T>A	uc001tuu.2	-	3	962	c.790A>T	c.(790-792)AGG>TGG	p.R264W		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)	1						TGCCTCCGCCTGAGCTCCTCC	0.597		NaN											0	0	0	0.009096	0	4	93				
FBXO21	23014	broad.mit.edu	37	12	117627036	117627036	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627036T>A	uc001twk.2	-	2	410	c.371A>T	c.(370-372)GAG>GTG	p.E124V	FBXO21_uc001twj.2_Missense_Mutation_p.E124V|FBXO21_uc009zwq.2_Missense_Mutation_p.E124V	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	124					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCTTACGTGCTCTGAAAAGAA	0.478		NaN											0	0	0	0.001168	0	6	79				
FBXO21	23014	broad.mit.edu	37	12	117627039	117627039	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627039G>A	uc001twk.2	-	2	407	c.368C>T	c.(367-369)TCA>TTA	p.S123L	FBXO21_uc001twj.2_Missense_Mutation_p.S123L|FBXO21_uc009zwq.2_Missense_Mutation_p.S123L	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	123					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACGTGCTCTGAAAAGAACCT	0.483		NaN											0	0	0	0.001984	0	7	77				
GCN1L1	10985	broad.mit.edu	37	12	120568496	120568496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120568496G>C	uc001txo.2	-	56	7638	c.7625C>G	c.(7624-7626)ACA>AGA	p.T2542R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2542					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTCCGCCTGTCTCGATGTG	0.602		NaN											0	0	0	0.00499	0	16	36				
GCN1L1	10985	broad.mit.edu	37	12	120611536	120611536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120611536G>C	uc001txo.2	-	14	1300	c.1287C>G	c.(1285-1287)TTC>TTG	p.F429L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	429					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGCTTTTTTGAACCATTCAG	0.517		NaN											0	0	0	0.000602	0	4	39				
COQ5	84274	broad.mit.edu	37	12	120942706	120942706	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120942706G>C	uc001tyn.2	-	5	782	c.762C>G	c.(760-762)CTC>CTG	p.L254L	COQ5_uc001tyo.2_Silent_p.L173L|COQ5_uc010szj.1_Silent_p.L180L	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	254					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTGGATATGAGGGGATTGT	0.458		NaN											0	0	0	0.004482	0	8	35				
FZD10	11211	broad.mit.edu	37	12	130648250	130648250	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:130648250C>G	uc001uii.2	+	1	1219	c.763C>G	c.(763-765)CGC>GGC	p.R255G	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	255	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGACCCGGCCCGCTTCCGCTA	0.647		NaN											0	0	0	0.010771	0	41	58				
ZNF10	7556	broad.mit.edu	37	12	133732756	133732756	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:133732756C>T	uc009zzb.2	+	5	1371	c.924C>T	c.(922-924)CTC>CTT	p.L308L	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.L308L	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	308	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTTCTCACCTCATTGGACATC	0.428		NaN											0	0	0	0.004878	0	38	60				
SACS	26278	broad.mit.edu	37	13	23930096	23930096	+	Nonsense_Mutation	SNP	G	G	A	rs146784878		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:23930096G>A	uc001uon.2	-	8	1244	c.655C>T	c.(655-657)CAA>TAA	p.Q219*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q72*|SACS_uc001uop.1_Nonsense_Mutation_p.Q6*|SACS_uc001uoq.1_Nonsense_Mutation_p.Q72*	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	219					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAAGTGTTTGATGAGGATCT	0.378		NaN											0	0	0	0.008291	0	11	11				
KIAA0564	23078	broad.mit.edu	37	13	42259229	42259229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:42259229C>A	uc001uyj.2	-	35	4351	c.4281G>T	c.(4279-4281)AGG>AGT	p.R1427S		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1427						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGGGTAAAATCCTCACTACCT	0.398		NaN											1	0	1.22384e-17	0.013726	1.48477e-17	34	32				
FOXG1	2290	broad.mit.edu	37	14	29237689	29237689	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:29237689C>T	uc001wqe.2	+	1	1403	c.1204C>T	c.(1204-1206)CTC>TTC	p.L402F		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	402	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GACCTACTCCCTCAACCCCTG	0.672		NaN											0	0	0	0.004672	0	3	19				
PRKD1	5587	broad.mit.edu	37	14	30066873	30066873	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:30066873T>C	uc001wqh.2	-	16	2439	c.2258A>G	c.(2257-2259)GAG>GGG	p.E753G		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	753	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTAGGACCTCAGGAGCCAG	0.488		NaN											0	0	0	0.012319	0	20	63				
NPAS3	64067	broad.mit.edu	37	14	34269591	34269591	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:34269591C>G	uc001wru.2	+	12	2142	c.2078C>G	c.(2077-2079)TCC>TGC	p.S693C	NPAS3_uc001wrs.2_Missense_Mutation_p.S680C|NPAS3_uc001wrt.2_Missense_Mutation_p.S661C|NPAS3_uc001wrv.2_Missense_Mutation_p.S663C	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CACTTCCCGTCCCCGCAGGGC	0.582		NaN											0	0	0	0.013537	0	12	26				
NIN	51199	broad.mit.edu	37	14	51204963	51204963	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:51204963T>A	uc001wym.2	-	27	5861	c.5670A>T	c.(5668-5670)AAA>AAT	p.K1890N	NIN_uc001wyi.2_Missense_Mutation_p.K1890N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K1177N|NIN_uc010tqp.1_Missense_Mutation_p.K1896N|NIN_uc001wyo.2_Missense_Mutation_p.K1890N|NIN_uc001wyn.2_RNA	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1890					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GGTTTAGATGTTTTTGGTGCT	0.403		NaN	T	PDGFRB	MPD								0	0	0	0.004289	0	37	84				
FRMD6	122786	broad.mit.edu	37	14	52167842	52167842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:52167842G>A	uc001wzd.2	+	4	544	c.259G>A	c.(259-261)GAG>AAG	p.E87K	FRMD6_uc001wzb.2_Missense_Mutation_p.E87K|FRMD6_uc001wzc.2_Missense_Mutation_p.E87K|FRMD6_uc001wze.2_Missense_Mutation_p.E18K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	87	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGGAAGAAAGAGGCCAGCAA	0.294		NaN											0	0	0	0.009096	0	3	10				
PCNX	22990	broad.mit.edu	37	14	71540497	71540497	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:71540497C>G	uc001xmo.2	+	27	5534	c.5088C>G	c.(5086-5088)CTC>CTG	p.L1696L	PCNX_uc010are.1_Silent_p.L1585L|PCNX_uc010arf.1_Silent_p.L484L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1696						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAAAGTACTCACCACTTACT	0.363		NaN											0	0	0	0.012213	0	28	84				
SNW1	22938	broad.mit.edu	37	14	78184840	78184840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:78184840C>T	uc001xuf.2	-	13	1309	c.1282G>A	c.(1282-1284)GAA>AAA	p.E428K	SNW1_uc010tvm.1_Missense_Mutation_p.E353K|SNW1_uc010asu.2_Missense_Mutation_p.E266K|SNW1_uc010tvn.1_Missense_Mutation_p.E428K	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	428					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTATAAATTTCATCTTCTCCA	0.363		NaN											0	0	0	0.00308	0	7	64				
SEL1L	6400	broad.mit.edu	37	14	81946033	81946033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:81946033C>A	uc010tvv.1	-	20	2215	c.2098G>T	c.(2098-2100)GAT>TAT	p.D700Y		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	700	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTTGTGCATCTGGGCTGGCT	0.418		NaN											1	0	2.0095e-06	0.001984	2.21813e-06	6	60				
GALC	2581	broad.mit.edu	37	14	88401080	88401080	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:88401080C>T	uc001xvt.2	-	17	2453	c.2054G>A	c.(2053-2055)CGC>CAC	p.R685H	GALC_uc010tvw.1_Intron|GALC_uc010tvx.1_Missense_Mutation_p.R659H|GALC_uc010tvy.1_Missense_Mutation_p.R662H|GALC_uc010tvz.1_Intron	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	685					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TAAGTATTAGCGTGTGGCTTC	0.403		NaN											0	0	0	0.001984	0	6	78				
KIAA1409	57578	broad.mit.edu	37	14	93944052	93944052	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:93944052A>G	uc001ybv.1	+	1	149	c.66A>G	c.(64-66)ACA>ACG	p.T22T	KIAA1409_uc001ybs.1_Silent_p.T22T|KIAA1409_uc001ybu.1_Silent_p.T22T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	199						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ATCTTAGCACATCTTTTCTAC	0.343		NaN											0	0	0	0.01441	0	47	99				
EML1	2009	broad.mit.edu	37	14	100375681	100375681	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100375681G>C	uc001ygs.2	+	11	1174	c.1105_splice	c.e11-1	p.C369_splice	EML1_uc010avt.1_Splice_Site_p.C356_splice|EML1_uc010tww.1_Splice_Site_p.C357_splice|EML1_uc001ygq.2_Splice_Site_p.C388_splice|EML1_uc001ygr.2_Splice_Site_p.C388_splice	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTTCCTATAGTGCTCTAATG	0.408		NaN											0	0	0	0.006214	0	9	124				
C14orf68	283600	broad.mit.edu	37	14	100792529	100792529	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100792529C>A	uc001yhc.2	+	3	181	c.108C>A	c.(106-108)ATC>ATA	p.I36I	C14orf68_uc001yhd.2_Translation_Start_Site	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	36	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				ACACAGGCATCTGGCACTGCG	0.667		NaN											1	0	2.80697e-09	0.010729	3.23082e-09	9	10				
TECPR2	9895	broad.mit.edu	37	14	102904406	102904406	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:102904406C>A	uc001ylw.1	+	10	2590	c.2442C>A	c.(2440-2442)CTC>CTA	p.L814L	TECPR2_uc010awl.2_Silent_p.L814L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	814							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						ATGGCATCCTCAGCTTGGTGG	0.587		NaN									OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.17888e-05	0.006214	2.35365e-05	9	143				
MGA	23269	broad.mit.edu	37	15	42041126	42041126	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:42041126G>T	uc010ucy.1	+	16	5684	c.5503_splice	c.e16+1	p.G1835_splice	MGA_uc010ucz.1_Splice_Site_p.G1626_splice|MGA_uc010uda.1_Splice_Site_p.G451_splice|MGA_uc001zoi.2_Splice_Site_p.G49_splice	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1							MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGGAACCCAGGTATAAAGTTC	0.403		NaN											1	0	1.836e-18	0.003755	2.24771e-18	36	21				
DMXL2	23312	broad.mit.edu	37	15	51773566	51773566	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:51773566T>C	uc002abf.2	-	24	5962	c.5737A>G	c.(5737-5739)AAA>GAA	p.K1913E	DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.K1913E|DMXL2_uc010bfa.2_Missense_Mutation_p.K1277E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1913						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GCAGATGTTTTGGTTACTTTT	0.383		NaN											0	0	0	0.01441	0	98	69				
PYGO1	26108	broad.mit.edu	37	15	55839197	55839197	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55839197T>C	uc010bfl.1	-	3	340	c.284A>G	c.(283-285)TAT>TGT	p.Y95C	PYGO1_uc002adf.1_Missense_Mutation_p.Y95C	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	95	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AAAGCCAGGATAACCAGGGCC	0.448		NaN											0	0	0	0.009096	0	3	98				
ZNF609	23060	broad.mit.edu	37	15	64966254	64966254	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:64966254A>C	uc002ann.2	+	4	1201	c.1201A>C	c.(1201-1203)ACC>CCC	p.T401P		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	401						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGCAGCAAAACCCGGGCAGG	0.587		NaN											0	0	0	0.001984	0	4	124				
DENND4A	10260	broad.mit.edu	37	15	66048786	66048786	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:66048786C>T	uc002aph.2	-	3	381	c.3G>A	c.(1-3)ATG>ATA	p.M1I	DENND4A_uc002api.2_Missense_Mutation_p.M1I|DENND4A_uc002apj.3_Missense_Mutation_p.M1I|DENND4A_uc010ujj.1_Missense_Mutation_p.M1I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGTCTTCAATCATCTTCCATT	0.358		NaN											0	0	0	0.00632	0	26	15				
SCAMP5	192683	broad.mit.edu	37	15	75305046	75305046	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305046C>G	uc002azk.1	+	3	198	c.36C>G	c.(34-36)CCC>CCG	p.P12P	SCAMP5_uc002azl.1_Silent_p.P12P|SCAMP5_uc002azm.1_Silent_p.P12P|SCAMP5_uc002azn.1_Silent_p.P12P|SCAMP5_uc010uly.1_5'UTR	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	12	Cytoplasmic (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						CACCATTGCCCAAATTCATCC	0.512		NaN											0	0	0	0.00278	0	24	10				
SCAMP5	192683	broad.mit.edu	37	15	75305073	75305073	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305073C>T	uc002azk.1	+	3	225	c.63C>T	c.(61-63)TTC>TTT	p.F21F	SCAMP5_uc002azl.1_Silent_p.F21F|SCAMP5_uc002azm.1_Silent_p.F21F|SCAMP5_uc002azn.1_Silent_p.F21F|SCAMP5_uc010uly.1_Silent_p.L3L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	21	Cytoplasmic (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						AGCCATGTTTCTACCAAGACT	0.527		NaN											0	0	0	0.006122	0	18	15				
IREB2	3658	broad.mit.edu	37	15	78758753	78758753	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:78758753G>T	uc002bdr.2	+	5	713	c.551G>T	c.(550-552)GGC>GTC	p.G184V	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.G184V	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	184							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGAGAACTAGGCCGAAACTCA	0.458		NaN											1	0	0.000274275	0.004482	0.00028856	8	41				
MESDC2	23184	broad.mit.edu	37	15	81274291	81274291	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:81274291C>G	uc002bfy.1	-	2	519	c.446G>C	c.(445-447)AGG>ACG	p.R149T	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	149	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						GCTGCTTTACCTCTGGACGTC	0.403		NaN											0	0	0	0.001168	0	5	35				
ADAMTSL3	57188	broad.mit.edu	37	15	84694106	84694106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:84694106G>C	uc002bjz.3	+	27	4798	c.4574G>C	c.(4573-4575)AGA>ACA	p.R1525T	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R1525T|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R1525T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1525	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGTCTCCAAGAGCATGTGCC	0.527		NaN											0	0	0	0.004672	0	3	23				
RHCG	51458	broad.mit.edu	37	15	90020842	90020842	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:90020842T>A	uc002bnz.2	-	7	1042	c.1018A>T	c.(1018-1020)ATT>TTT	p.I340F	RHCG_uc002bny.2_Missense_Mutation_p.I111F|RHCG_uc002boa.2_Intron	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	340	Cytoplasmic (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGATTGTTAATGCCACATGTG	0.592		NaN											0	0	0	0.012319	0	21	12				
ITFG3	83986	broad.mit.edu	37	16	310048	310048	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:310048G>C	uc002cgf.2	+	5	661	c.466G>C	c.(466-468)GAC>CAC	p.D156H	ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.D156H|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D156H	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	156	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTGGCCCAAGACGTGGCCCT	0.622		NaN											0	0	0	0.012213	0	34	21				
WDR24	84219	broad.mit.edu	37	16	735419	735419	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:735419G>C	uc002ciz.1	-	7	2617	c.1857C>G	c.(1855-1857)GTC>GTG	p.V619V	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	749										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCGCGTGTGAGACAGACAGGA	0.677		NaN											0	0	0	0.000602	0	5	40				
NDUFB10	4716	broad.mit.edu	37	16	2011251	2011251	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:2011251C>T	uc002cni.2	+	2	337	c.228C>T	c.(226-228)ATC>ATT	p.I76I	NDUFB10_uc002cnj.2_Silent_p.I76I	NM_004548	NP_004539	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	76					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	AGGAGGACATCATGTGCATGT	0.537		NaN											0	0	0	0.00623	0	39	27				
PAQR4	124222	broad.mit.edu	37	16	3019837	3019837	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:3019837G>C	uc002csj.3	+	1	496	c.162G>C	c.(160-162)ACG>ACC	p.T54T	PAQR4_uc002csk.3_Silent_p.T54T|PAQR4_uc002csl.3_Silent_p.T54T|PAQR4_uc010uwm.1_5'Flank	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	54	Helical; (Potential).			T -> A (in Ref. 2; BAC03821).		integral to membrane	receptor activity				0						ACATCTACACGCACGGTGAGC	0.697		NaN											0	0	0	0.00245	0	14	14				
TNP2	7142	broad.mit.edu	37	16	11362858	11362858	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:11362858A>T	uc002das.2	-	1	303	c.262T>A	c.(262-264)TCC>ACC	p.S88T	C16orf75_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	transition protein 2 (during histone to	88					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0						GAGTGGTGGGAGTTCATAGTC	0.557		NaN											0	0	0	0.00623	0	39	22				
TMC7	79905	broad.mit.edu	37	16	19020681	19020681	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:19020681C>A	uc002dfq.2	+	2	385	c.255C>A	c.(253-255)CTC>CTA	p.L85L	TMC7_uc010vao.1_Silent_p.L85L|TMC7_uc002dfp.2_Silent_p.L85L|TMC7_uc010vap.1_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	85	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3						CTGAAAACCTCAGCAGCCATT	0.493		NaN											1	0	6.68952e-21	0.013114	8.23953e-21	46	20				
THUMPD1	55623	broad.mit.edu	37	16	20748467	20748467	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:20748467T>C	uc002dho.2	-	4	935	c.797A>G	c.(796-798)GAG>GGG	p.E266G	THUMPD1_uc010vaz.1_Missense_Mutation_p.E119G|THUMPD1_uc002dhp.2_Missense_Mutation_p.E266G	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	266											0						CTTCACCACCTCCTGGAGATT	0.428		NaN											0	0	0	0.003954	0	23	86				
SEPT1	1731	broad.mit.edu	37	16	30392786	30392786	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:30392786G>A	uc002dxy.2	-	6	501	c.314C>T	c.(313-315)CCG>CTG	p.P105L	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.P152L	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	105					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TTTCACCACCGGAAGCCAGCT	0.562		NaN											0	0	0	0.009096	0	4	114				
ITGAD	3681	broad.mit.edu	37	16	31429662	31429662	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:31429662C>T	uc002ebv.1	+	22	2706	c.2657C>T	c.(2656-2658)ACC>ATC	p.T886I	ITGAD_uc010cap.1_Missense_Mutation_p.T887I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	886	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TACAAGGCCACCCTGGGAGAC	0.577		NaN											0	0	0	0.001984	0	7	96				
SLC12A4	6560	broad.mit.edu	37	16	67985834	67985834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:67985834A>G	uc002euz.2	-	8	1165	c.1024T>C	c.(1024-1026)TTC>CTC	p.F342L	SLC12A4_uc010ceu.2_Missense_Mutation_p.F336L|SLC12A4_uc010vkh.1_Missense_Mutation_p.F311L|SLC12A4_uc010vki.1_Missense_Mutation_p.F342L|SLC12A4_uc010vkj.1_Missense_Mutation_p.F344L|SLC12A4_uc002eva.2_Missense_Mutation_p.F342L|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	342					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGCAGAAGAAACTCCAT	0.577		NaN											0	0	0	0.00308	0	7	57				
HAS3	3038	broad.mit.edu	37	16	69147356	69147356	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:69147356G>C	uc010cfh.2	+	3	873	c.649G>C	c.(649-651)GAC>CAC	p.D217H	HAS3_uc002ewk.2_Missense_Mutation_p.D217H|HAS3_uc002ewl.2_Missense_Mutation_p.D217H	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	217	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCGACTCTGACACTGTGCT	0.612		NaN									OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	29	59				
SF3B3	23450	broad.mit.edu	37	16	70563070	70563070	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:70563070C>T	uc002ezf.2	+	3	576	c.365C>T	c.(364-366)GCT>GTT	p.A122V	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	122					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CAGTTCTTAGCTGTGGATCCC	0.438		NaN											0	0	0	0.009096	0	3	51				
VAT1L	57687	broad.mit.edu	37	16	77910312	77910312	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:77910312G>T	uc002ffg.1	+	5	865	c.768G>T	c.(766-768)GGG>GGT	p.G256G		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	256							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						GCCTCTGTGGGGACAACACTG	0.478		NaN											1	0	1.58986e-06	0.008291	1.76457e-06	10	135				
C16orf46	123775	broad.mit.edu	37	16	81095726	81095726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:81095726C>A	uc002fgc.3	-	4	487	c.228G>T	c.(226-228)AGG>AGT	p.R76S	C16orf46_uc010chf.2_Missense_Mutation_p.R76S|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	76											0						CTGGAGAAGTCCTTCCCCACC	0.557		NaN											1	0	1.5842e-08	0.001855	1.81308e-08	11	106				
KIAA0182	23199	broad.mit.edu	37	16	85691124	85691124	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:85691124C>T	uc002fix.2	+	8	1628	c.1554C>T	c.(1552-1554)TTC>TTT	p.F518F	KIAA0182_uc002fiw.2_Silent_p.F414F|KIAA0182_uc002fiy.2_Silent_p.F445F	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	518							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						TGTCCGAGTTCCGGCAGCAGG	0.697		NaN											0	0	0	0.006214	0	9	12				
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:7577107A>T	uc002gim.2	-	8	1025	c.831T>A	c.(829-831)TGT>TGA	p.C277*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.C277*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.C145*|TP53_uc010cng.1_Nonsense_Mutation_p.C145*|TP53_uc002gii.1_Nonsense_Mutation_p.C145*|TP53_uc010cnh.1_Nonsense_Mutation_p.C277*|TP53_uc010cni.1_Nonsense_Mutation_p.C277*|TP53_uc002gij.2_Nonsense_Mutation_p.C277*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	277	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCTCCCAGGACAGGCACAAA	0.547		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.004007	0	17	14		Valid		
MYH13	8735	broad.mit.edu	37	17	10248889	10248889	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:10248889C>A	uc002gmk.1	-	14	1398	c.1308G>T	c.(1306-1308)AAG>AAT	p.K436N	MYH13_uc010vvf.1_Missense_Mutation_p.K111N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	436	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						ACAGGAACATCTTCTCGTAGA	0.517		NaN											1	0	5.85753e-14	0.01441	6.98066e-14	44	42				
AKAP10	11216	broad.mit.edu	37	17	19845219	19845219	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:19845219C>T	uc002gwo.2	-	6	1118	c.981G>A	c.(979-981)AGG>AGA	p.R327R	AKAP10_uc002gwp.1_Silent_p.R327R|AKAP10_uc010cqw.1_Silent_p.R327R	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	327	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CTCCACAAATCCTTGCTGCAA	0.373		NaN											0	0	0	0.000602	0	4	25				
NOS2	4843	broad.mit.edu	37	17	26106004	26106004	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:26106004G>T	uc002gzu.2	-	10	1347	c.1083C>A	c.(1081-1083)GGC>GGA	p.G361G	NOS2_uc010crh.1_Silent_p.G361G|NOS2_uc010wab.1_Silent_p.G361G	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	361					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGAACTCCAGGCCGCCCACCT	0.567		NaN											1	0	1.39649e-27	0.012213	1.73062e-27	30	40				
EFCAB5	374786	broad.mit.edu	37	17	28380773	28380773	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:28380773G>C	uc002het.2	+	10	1993	c.1801G>C	c.(1801-1803)GAG>CAG	p.E601Q	EFCAB5_uc010wbi.1_Missense_Mutation_p.E344Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E545Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E258Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E480Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E480Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	601							calcium ion binding			ovary(1)|skin(1)	2						ATCAAGCAGAGAGTCAGTTGC	0.478		NaN											0	0	0	0.013537	0	12	109				
GAS2L2	246176	broad.mit.edu	37	17	34071981	34071981	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:34071981C>T	uc002hjv.1	-	6	2563	c.2535G>A	c.(2533-2535)GAG>GAA	p.E845E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	845					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGctctttctcctcctttc	0.512		NaN											0	0	0	0.000602	0	4	20				
ABCC3	8714	broad.mit.edu	37	17	48761083	48761083	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:48761083G>C	uc002isl.2	+	27	4000	c.3920G>C	c.(3919-3921)AGA>ACA	p.R1307T	ABCC3_uc002isn.2_Missense_Mutation_p.R61T	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1307	Cytoplasmic (By similarity).|ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGGTGCTGAGAGACCTGAGT	0.647		NaN											0	0	0	0.010818	0	30	81				
UTP18	51096	broad.mit.edu	37	17	49357465	49357465	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:49357465A>C	uc002its.2	+	8	1161	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	371	WD 3.				rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTAGCAATGAAGGTAAAGCAT	0.418		NaN											0	0	0	0.004007	0	16	24				
ACE	1636	broad.mit.edu	37	17	61566424	61566424	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:61566424C>T	uc002jau.1	+	17	2594	c.2572C>T	c.(2572-2574)CGG>TGG	p.R858W	ACE_uc002jav.1_Missense_Mutation_p.R284W|ACE_uc010ddv.1_Missense_Mutation_p.R85W|ACE_uc010wpj.1_Missense_Mutation_p.R284W|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	858	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTACGTGCGCCGGGCCCTGCA	0.632		NaN											0	0	0	0.004672	0	3	39				
KCNJ16	3773	broad.mit.edu	37	17	68128659	68128659	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:68128659C>A	uc002jin.2	+	5	917	c.431C>A	c.(430-432)TCT>TAT	p.S144Y	KCNJ16_uc002jio.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jip.2_Missense_Mutation_p.S144Y|KCNJ16_uc002jiq.2_Missense_Mutation_p.S176Y	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	144	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					GAAGAATGTTCTGTGGCCGTG	0.458		NaN											1	0	7.41877e-09	0.012319	8.51473e-09	23	41				
CD300A	11314	broad.mit.edu	37	17	72480186	72480186	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:72480186C>T	uc002jkv.2	+	7	1142	c.821C>T	c.(820-822)TCT>TTT	p.S274F	CD300A_uc002jkw.2_Missense_Mutation_p.S161F|CD300A_uc010dfr.2_Missense_Mutation_p.S125F|CD300A_uc010dfs.2_Missense_Mutation_p.S78F	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	leukocyte membrane antigen	274	Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2						GTGTTTGATTCTAACACCAAC	0.507		NaN											0	0	0	0.004656	0	26	60				
KIAA0195	9772	broad.mit.edu	37	17	73489627	73489627	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:73489627A>G	uc002jnz.3	+	17	2417	c.2142A>G	c.(2140-2142)ACA>ACG	p.T714T	KIAA0195_uc010wsa.1_Silent_p.T724T|KIAA0195_uc010wsb.1_Silent_p.T354T|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	714					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCCTGCACAGACTTCTGGG	0.612		NaN											0	0	0	0.00499	0	16	31				
NARF	26502	broad.mit.edu	37	17	80426772	80426772	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:80426772G>C	uc002kfg.3	+	4	525	c.385G>C	c.(385-387)GGG>CGG	p.G129R	NARF_uc002kff.3_Missense_Mutation_p.G70R|NARF_uc010wvo.1_Missense_Mutation_p.G129R|NARF_uc010wvp.1_Missense_Mutation_p.L13F|NARF_uc010dit.2_Missense_Mutation_p.G129R|NARF_uc002kfj.3_Missense_Mutation_p.G81R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.G129R|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	129						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAAAAGTCTTGGTGAGTCATC	0.388		NaN											0	0	0	0.001168	0	5	78				
NDC80	10403	broad.mit.edu	37	18	2595619	2595619	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:2595619C>T	uc002kli.2	+	11	1402	c.1220C>T	c.(1219-1221)GCG>GTG	p.A407V		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	407	Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						GGCAAAGAAGCGGTATGTCAT	0.408		NaN											0	0	0	0.004007	0	16	41				
LAMA3	3909	broad.mit.edu	37	18	21474922	21474922	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:21474922A>T	uc002kuq.2	+	44	5599	c.5513A>T	c.(5512-5514)GAG>GTG	p.E1838V	LAMA3_uc002kur.2_Missense_Mutation_p.E1838V|LAMA3_uc002kus.3_Missense_Mutation_p.E229V|LAMA3_uc002kut.3_Missense_Mutation_p.E229V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1838	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATGGGCGAGCAGCTCCGC	0.627		NaN											0	0	0	0.009096	0	3	25				
ZNF555	148254	broad.mit.edu	37	19	2851495	2851495	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:2851495T>A	uc002lwo.2	+	3	249	c.160T>A	c.(160-162)TCA>ACA	p.S54T	ZNF555_uc002lwn.3_Missense_Mutation_p.S54T	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGTGGGTCAGTTTCTCA	0.388		NaN											0	0	0	0.009096	0	3	45				
C19orf29	58509	broad.mit.edu	37	19	3612107	3612107	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:3612107C>A	uc002lyh.2	-	10	2144	c.2091G>T	c.(2089-2091)GAG>GAT	p.E697D	C19orf29_uc010xho.1_Missense_Mutation_p.E156D|C19orf29_uc010dtn.2_Missense_Mutation_p.E545D|C19orf29_uc002lyi.3_Missense_Mutation_p.E697D|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	697						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGCAGGCCTCCAGGAAGT	0.582		NaN											1	0	3.41278e-10	0.00499	3.98487e-10	17	181				
ECSIT	51295	broad.mit.edu	37	19	11624758	11624758	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:11624758G>C	uc002msb.2	-	3	509	c.375C>G	c.(373-375)GAC>GAG	p.D125E	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Missense_Mutation_p.D125E|ECSIT_uc010dyd.2_Missense_Mutation_p.D125E|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	125					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						ACACAGCCAGGTCCCGCTCGA	0.597		NaN											0	0	0	0.001984	0	6	56				
ZNF563	147837	broad.mit.edu	37	19	12430206	12430206	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:12430206T>C	uc002mtp.2	-	4	871	c.633A>G	c.(631-633)TTA>TTG	p.L211L	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCATACGTAATAAACTGGGCC	0.393		NaN											0	0	0	0.004007	0	17	142				
OR7A5	26659	broad.mit.edu	37	19	14938677	14938677	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:14938677A>G	uc002mzw.2	-	1	600	c.377T>C	c.(376-378)ATC>ACC	p.I126T	OR7A5_uc010xoa.1_Missense_Mutation_p.I126T	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						GGGGTGACAGATGGCCACAAA	0.483		NaN											0	0	0	0.014323	0	22	38				
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:16060285G>A	uc010xov.1	+	1	468	c.468G>A	c.(466-468)ATG>ATA	p.M156I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						GCTCAGTCATGGGGATGATGG	0.522		NaN											0	0	0	0.010504	0	21	113				
LSR	51599	broad.mit.edu	37	19	35757739	35757739	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:35757739A>G	uc002nyl.2	+	8	1380	c.1157A>G	c.(1156-1158)GAA>GGA	p.E386G	LSR_uc002nym.2_Missense_Mutation_p.E367G|LSR_uc002nyn.2_Missense_Mutation_p.E318G|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Missense_Mutation_p.E278G|LSR_uc002nyp.2_Intron|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	386	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGTCCCTAGAAGTCCGCAGT	0.597		NaN											0	0	0	0.004482	0	6	6				
CYP2A7	1549	broad.mit.edu	37	19	41383813	41383813	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:41383813A>C	uc002opm.2	-	6	1459	c.917T>G	c.(916-918)GTC>GGC	p.V306G	CYP2A7_uc002opo.2_Missense_Mutation_p.V306G|CYP2A7_uc002opn.2_Missense_Mutation_p.V255G	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	306						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTGGTGCTGACCGTCTCGGT	0.587		NaN											0	0	0	0.010729	0	11	56				
FUT1	2523	broad.mit.edu	37	19	49253764	49253764	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49253764C>G	uc002pkk.2	-	4	1750	c.775G>C	c.(775-777)GTG>CTG	p.V259L		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	259	Lumenal (Potential).		V -> E (in Bombay H-).		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTGACCACGAAAACGGGG	0.617		NaN											0	0	0	0.000602	0	5	122				
PLEKHA4	57664	broad.mit.edu	37	19	49348658	49348658	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49348658C>T	uc002pkx.2	-	16	2263	c.1712G>A	c.(1711-1713)CGC>CAC	p.R571H	PLEKHA4_uc002pkw.1_Missense_Mutation_p.R86H|PLEKHA4_uc010eml.2_Missense_Mutation_p.R546H	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	571						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGAGGTGGCGACCCTCAGG	0.582		NaN											0	0	0	0.01441	0	55	14				
NOSIP	51070	broad.mit.edu	37	19	50060221	50060221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:50060221G>A	uc002pok.2	-	7	600	c.448C>T	c.(448-450)CCT>TCT	p.P150S	NOSIP_uc002pol.2_Missense_Mutation_p.P150S|NOSIP_uc010yay.1_RNA	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	150					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTACTTGGAGGACCCACACTG	0.478		NaN											0	0	0	0.000602	0	5	9				
GPR32	2854	broad.mit.edu	37	19	51274695	51274695	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:51274695C>T	uc010ycf.1	+	1	838	c.838C>T	c.(838-840)CTG>TTG	p.L280L		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	280	Helical; Name=6; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTTGGTCCATCTGTGGCGACG	0.592		NaN											0	0	0	0.01441	0	81	25				
VSTM1	284415	broad.mit.edu	37	19	54561828	54561828	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:54561828G>A	uc002qcw.3	-	3	263	c.87C>T	c.(85-87)CCC>CCT	p.P29P	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.P29P	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	29	Ig-like V-type.					integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CGTGGAGGGAGGGCTTGGGCG	0.498		NaN											0	0	0	0.008291	0	10	70				
NLRP7	199713	broad.mit.edu	37	19	55450590	55450590	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:55450590C>G	uc002qih.3	-	4	1673	c.1597G>C	c.(1597-1599)GAG>CAG	p.E533Q	NLRP7_uc002qig.3_Missense_Mutation_p.E533Q|NLRP7_uc002qii.3_Missense_Mutation_p.E533Q|NLRP7_uc010esk.2_Missense_Mutation_p.E533Q|NLRP7_uc010esl.2_Missense_Mutation_p.E561Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	533							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GCCTCCAACTCCTTGGCTCTC	0.498		NaN											0	0	0	0.004672	0	3	66				
U2AF2	11338	broad.mit.edu	37	19	56181003	56181003	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56181003A>G	uc002qlu.2	+	11	2293	c.1238A>G	c.(1237-1239)AAG>AGG	p.K413R	U2AF2_uc002qlt.2_Missense_Mutation_p.K409R	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	413	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGCTTGTCAAGTCCATCGAG	0.567		NaN											0	0	0	0.00632	0	23	12				
NLRP4	147945	broad.mit.edu	37	19	56369479	56369479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56369479G>C	uc002qmd.3	+	3	1142	c.720G>C	c.(718-720)TTG>TTC	p.L240F	NLRP4_uc002qmf.2_Missense_Mutation_p.L165F|NLRP4_uc010etf.2_Missense_Mutation_p.L71F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	240	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGCGGCTTGAACGAACCCG	0.567		NaN											0	0	0	0.005443	0	26	61				
ZIM2	23619	broad.mit.edu	37	19	57286539	57286539	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:57286539G>C	uc002qnr.2	-	11	1483	c.1101C>G	c.(1099-1101)CTC>CTG	p.L367L	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.L163L|ZIM2_uc010ygr.1_Silent_p.L163L|ZIM2_uc002qnq.2_Silent_p.L367L|ZIM2_uc010etp.2_Silent_p.L367L|ZIM2_uc010ygs.1_Silent_p.L367L	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	367	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTGTGGCATGAGATAGAAGG	0.478		NaN											0	0	0	0.00308	0	6	96				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.004672	0.004672	0.00486466	3	8				
ZNF418	147686	broad.mit.edu	37	19	58438177	58438177	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58438177C>G	uc002qqs.1	-	4	1664	c.1372G>C	c.(1372-1374)GAG>CAG	p.E458Q	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E373Q	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	458	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCTACACTCTCTACACTCA	0.443		NaN											0	0	0	0.01441	0	96	44				
RHOB	388	broad.mit.edu	37	2	20647450	20647450	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:20647450C>T	uc002rdv.2	+	1	616	c.224C>T	c.(223-225)CCG>CTG	p.P75L		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CTCTCCTACCCGGACACCGAC	0.647		NaN											0	0	0	0.012319	0	22	65		Valid		
ASXL2	55252	broad.mit.edu	37	2	25965729	25965729	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:25965729C>G	uc002rgs.2	-	12	3698	c.3477G>C	c.(3475-3477)TTG>TTC	p.L1159F	ASXL2_uc002rgt.1_Missense_Mutation_p.L642F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCATTTTCAAGGCTTCAG	0.458		NaN											0	0	0	0.004656	0	27	60				
BIRC6	57448	broad.mit.edu	37	2	32716552	32716552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:32716552C>G	uc010ezu.2	+	44	8401	c.8267C>G	c.(8266-8268)CCA>CGA	p.P2756R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2756					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTTTCAGATCCAAACCTAATT	0.388		NaN											0	0	0	0.013726	0	34	57				
FSHR	2492	broad.mit.edu	37	2	49190073	49190073	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:49190073A>G	uc002rww.2	-	10	1961	c.1887T>C	c.(1885-1887)TTT>TTC	p.F629F	FSHR_uc002rwx.2_Silent_p.F567F|FSHR_uc010fbn.2_Silent_p.F603F	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	629	Helical; Name=7; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGTTTTTGGTAAAGATGGCAT	0.468		NaN							Gonadal_Dysgenesis_46_XX				0	0	0	0.000602	0	5	37				
PSME4	23198	broad.mit.edu	37	2	54093286	54093286	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:54093286G>A	uc002rxp.2	-	46	5528	c.5472C>T	c.(5470-5472)TTC>TTT	p.F1824F	PSME4_uc010yop.1_Silent_p.F1714F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.F1199F|PSME4_uc010fbv.1_Silent_p.F968F|PSME4_uc010fbt.1_Silent_p.F259F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1824					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTCATCAGTGAATTGCTGTT	0.398		NaN											0	0	0	0.003954	0	23	78				
MEIS1	4211	broad.mit.edu	37	2	66775088	66775088	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:66775088C>T	uc002sdu.2	+	9	1359	c.902C>T	c.(901-903)TCT>TTT	p.S301F	MEIS1_uc002sdt.2_Missense_Mutation_p.S301F|MEIS1_uc002sdv.2_Missense_Mutation_p.S299F|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.S236F|MEIS1_uc002sdw.1_Missense_Mutation_p.S157F	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	301	Homeobox; TALE-type.						sequence-specific DNA binding transcription factor activity				0						CCTTACCCTTCTGAAGAACAG	0.383		NaN											0	0	0	0.014323	0	20	26				
ARHGAP25	9938	broad.mit.edu	37	2	69015022	69015022	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:69015022A>T	uc002seu.2	+	4	764	c.400A>T	c.(400-402)AGC>TGC	p.S134C	ARHGAP25_uc010yqk.1_Missense_Mutation_p.S108C|ARHGAP25_uc010fdg.2_Missense_Mutation_p.S134C|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sew.2_Missense_Mutation_p.S127C|ARHGAP25_uc002sex.2_Missense_Mutation_p.S127C|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	134	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CCTCATGGCCAGCTCTCAGGC	0.542		NaN											0	0	0	0.004672	0	3	72				
TGFBRAP1	9392	broad.mit.edu	37	2	105883968	105883968	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:105883968G>C	uc002tcq.2	-	12	2539	c.2455C>G	c.(2455-2457)CAG>GAG	p.Q819E	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.Q588E|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.Q819E|uc002tcp.2_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	819					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						TGGCATATCTGACAAAGCTTT	0.433		NaN											0	0	0	0.014323	0	23	116				
RGPD3	653489	broad.mit.edu	37	2	107040796	107040796	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:107040796C>G	uc010ywi.1	-	20	3684	c.3627G>C	c.(3625-3627)TTG>TTC	p.L1209F		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1209					intracellular transport		binding			ovary(1)	1						GATCATTTGTCAAAAATGTTT	0.408		NaN											0	0	0	0.009718	0	37	192				
MALL	7851	broad.mit.edu	37	2	110849283	110849283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:110849283C>G	uc002tfk.2	-	2	944	c.170G>C	c.(169-171)GGA>GCA	p.G57A	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	57	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CATCACCCATCCTTGCAGCAA	0.433		NaN											0	0	0	0.000602	0	4	71				
SAP130	79595	broad.mit.edu	37	2	128775266	128775266	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:128775266C>G	uc002tpp.2	-	3	546	c.414G>C	c.(412-414)GAG>GAC	p.E138D	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.E138D|SAP130_uc002tpq.1_Missense_Mutation_p.E112D	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	138	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATAAGTCCCTCCGAAAATG	0.478		NaN											0	0	0	0.014323	0	20	27				
LCT	3938	broad.mit.edu	37	2	136567117	136567117	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:136567117T>C	uc002tuu.1	-	8	2811	c.2800A>G	c.(2800-2802)AAC>GAC	p.N934D		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	934	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGTAAAGTTATCCCAGATG	0.552		NaN											0	0	0	0.009096	0	4	61				
ORC4L	5000	broad.mit.edu	37	2	148705641	148705641	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:148705641C>T	uc002twi.2	-	9	876	c.741G>A	c.(739-741)GAG>GAA	p.E247E	ORC4L_uc002twj.2_Silent_p.E247E|ORC4L_uc010zbo.1_Silent_p.E173E|ORC4L_uc010zbp.1_Silent_p.E30E|ORC4L_uc010fnr.2_Silent_p.E247E|ORC4L_uc010zbq.1_Silent_p.E163E|ORC4L_uc002twk.2_Silent_p.E247E|ORC4L_uc010zbr.1_Silent_p.E247E	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	247					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		CATTCCACTTCTCAGCAAAAA	0.294		NaN											0	0	0	0.001168	0	6	94				
SCN2A	6326	broad.mit.edu	37	2	166229818	166229818	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:166229818G>A	uc002udc.2	+	21	4223	c.3933G>A	c.(3931-3933)CTG>CTA	p.L1311L	SCN2A_uc002udd.2_Silent_p.L1311L|SCN2A_uc002ude.2_Silent_p.L1311L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1311	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TAAGAGCTCTGAGGCCACTGA	0.433		NaN											0	0	0	0.009096	0	4	85				
XIRP2	129446	broad.mit.edu	37	2	168101392	168101392	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168101392A>G	uc002udx.2	+	8	3508	c.3490A>G	c.(3490-3492)ACA>GCA	p.T1164A	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T989A|XIRP2_uc010fpq.2_Missense_Mutation_p.T942A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	989	Xin 18.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GGATGTTCGTACAGCATGTTT	0.398		NaN											0	0	0	0.009535	0	29	40				
XIRP2	129446	broad.mit.edu	37	2	168108453	168108453	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168108453A>C	uc002udx.2	+	8	10569	c.10551A>C	c.(10549-10551)ATA>ATC	p.I3517I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.I3342I|XIRP2_uc010fpq.2_Silent_p.I3295I|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3342					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGCATTTATAAGTGGTAAAT	0.408		NaN											0	0	0	0.001168	0	4	68				
TTN	7273	broad.mit.edu	37	2	179431334	179431334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179431334C>G	uc010zfg.1	-	275	72045	c.71821G>C	c.(71821-71823)GGT>CGT	p.G23941R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17636R|TTN_uc010zfi.1_Missense_Mutation_p.G17569R|TTN_uc010zfj.1_Missense_Mutation_p.G17444R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24868							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTTTACCCCAGGCAAGT	0.423		NaN											0	0	0	0.00333	0	24	206				
TTN	7273	broad.mit.edu	37	2	179547564	179547564	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179547564C>T	uc010zfg.1	-	132	29446	c.29222G>A	c.(29221-29223)CGG>CAG	p.R9741Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6402Q|TTN_uc010fre.1_Missense_Mutation_p.R588Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10668							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCTTCCCGTTGTACTGA	0.353		NaN											0	0	0	0.001168	0	6	57				
TTN	7273	broad.mit.edu	37	2	179596956	179596956	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179596956A>C	uc010zfg.1	-	54	13232	c.13008T>G	c.(13006-13008)AAT>AAG	p.N4336K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N997K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5263							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCTATCATTTGCAAACC	0.423		NaN											0	0	0	0.01441	0	62	85				
COL5A2	1290	broad.mit.edu	37	2	190044277	190044277	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:190044277T>A	uc002uqk.2	-	1	329	c.54A>T	c.(52-54)TTA>TTT	p.L18F		NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	18					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAATTGCCCTAATAAAACAA	0.413		NaN											0	0	0	0.007413	0	16	21				
STAT1	6772	broad.mit.edu	37	2	191847151	191847151	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:191847151G>C	uc002usj.2	-	18	1928	c.1540C>G	c.(1540-1542)CTC>GTC	p.L514V	STAT1_uc010fse.1_Missense_Mutation_p.L514V|STAT1_uc002usk.2_Missense_Mutation_p.L514V|STAT1_uc002usl.2_Missense_Mutation_p.L516V|STAT1_uc010fsf.1_Missense_Mutation_p.L326V	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	514					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCACATTGAGACCTCTTTTG	0.398		NaN											0	0	0	0.004289	0	34	100				
HECW2	57520	broad.mit.edu	37	2	197092943	197092943	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197092943A>G	uc002utm.1	-	22	3983	c.3800T>C	c.(3799-3801)TTC>TCC	p.F1267S	HECW2_uc002utl.1_Missense_Mutation_p.F911S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1267	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GGATACCAGGAAGAAAAACTC	0.348		NaN											0	0	0	0.00245	0	12	46				
GTF3C3	9330	broad.mit.edu	37	2	197641263	197641263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197641263A>G	uc002uts.2	-	11	1571	c.1481T>C	c.(1480-1482)ATT>ACT	p.I494T	GTF3C3_uc010zgu.1_Missense_Mutation_p.I465T	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	494	TPR 9.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						AGAAAGTGAAATCCTTGCATC	0.473		NaN											0	0	0	0.009096	0	4	114				
SPEG	10290	broad.mit.edu	37	2	220337015	220337015	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:220337015T>A	uc010fwg.2	+	15	3902	c.3902T>A	c.(3901-3903)CTC>CAC	p.L1301H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1301	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGTCACACTCACATGGAAC	0.647		NaN											0	0	0	0.004482	0	7	38				
CAPN10	11132	broad.mit.edu	37	2	241531491	241531491	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:241531491G>A	uc002vzk.1	+	4	796	c.612G>A	c.(610-612)GAG>GAA	p.E204E	CAPN10_uc010zoh.1_Silent_p.E204E|CAPN10_uc002vzl.1_Silent_p.E204E|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.E76E|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	204	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCGCTGGGAGCACAGGACTT	0.657		NaN											0	0	0	0.00308	0	7	8				
MTERFD2	130916	broad.mit.edu	37	2	242038846	242038846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:242038846C>T	uc002wan.1	-	1	1065	c.572G>A	c.(571-573)CGC>CAC	p.R191H	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.R162H	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	162										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTAACTGGAGCGCTTCCTCAT	0.338		NaN											0	0	0	0.008291	0	10	118				
FASTKD5	60493	broad.mit.edu	37	20	3127517	3127517	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:3127517C>G	uc002whz.2	-	2	2511	c.2200G>C	c.(2200-2202)GAG>CAG	p.E734Q	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	734	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TAGGATAACTCTACCACACGG	0.502		NaN											0	0	0	0.01441	0	48	55				
ANKRD5	63926	broad.mit.edu	37	20	10030758	10030758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:10030758C>A	uc002wno.2	+	7	1934	c.1541C>A	c.(1540-1542)TCA>TAA	p.S514*	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.S514*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.S325*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	514							calcium ion binding			ovary(1)|breast(1)	2						GCCTTTGAATCAGGAATACCT	0.378		NaN											1	0	1.12685e-05	0.004482	1.22708e-05	8	46				
BCL2L1	598	broad.mit.edu	37	20	30309576	30309576	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30309576G>T	uc002wwl.2	-	2	812	c.446C>A	c.(445-447)GCA>GAA	p.A149E	BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Missense_Mutation_p.A149E|BCL2L1_uc002wwo.1_Missense_Mutation_p.A149E	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	BCL2-like 1 isoform 1	149					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			lung(1)|central_nervous_system(1)	2	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CACGCACAGTGCCCCGCCGAA	0.537		NaN											1	0	3.07112e-06	0.010729	3.37155e-06	9	175				
TM9SF4	9777	broad.mit.edu	37	20	30723942	30723942	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30723942G>C	uc002wxj.2	+	3	430	c.195G>C	c.(193-195)CAG>CAC	p.Q65H	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Missense_Mutation_p.Q48H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	65						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTTCTGCCAGCCCAGCAAGA	0.483		NaN											0	0	0	0.001168	0	5	44				
SNTA1	6640	broad.mit.edu	37	20	32026723	32026723	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:32026723C>G	uc002wzd.1	-	2	692	c.420G>C	c.(418-420)GGG>GGC	p.G140G	SNTA1_uc010zuf.1_Silent_p.G140G	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	140	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						ACAAGTCTTCCCCATTCACAG	0.532		NaN											0	0	0	0.010729	0	11	141				
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:41400092C>T	uc002xkg.2	-	5	851	c.667G>A	c.(667-669)GAC>AAC	p.D223N	PTPRT_uc010ggj.2_Missense_Mutation_p.D223N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	223	Extracellular (Potential).|Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAAAGCTTGTCATGCTGAGAC	0.418		NaN											0	0	0	0.009096	0	4	163				
TFAP2C	7022	broad.mit.edu	37	20	55212966	55212966	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:55212966A>T	uc002xya.2	+	7	1493	c.1250A>T	c.(1249-1251)AAA>ATA	p.K417I	TFAP2C_uc010zzi.1_Missense_Mutation_p.K248I	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	417	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AACTACATCAAAGAAGCCCTG	0.488		NaN											0	0	0	0.000602	0	5	71				
KRTAP22-1	337979	broad.mit.edu	37	21	31973474	31973474	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:31973474G>T	uc011add.1	+	1	35	c.35G>T	c.(34-36)GGC>GTC	p.G12V	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament					0						GGTGGCCAGGGCTATGCCAAA	0.443		NaN											1	0	1.45844e-13	0.013726	1.73296e-13	34	96				
KCNJ6	3763	broad.mit.edu	37	21	39087121	39087121	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:39087121C>G	uc011aej.1	-	3	392	c.339G>C	c.(337-339)TTG>TTC	p.L113F	KCNJ6_uc002ywo.2_Missense_Mutation_p.L113F	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	113	Helical; Name=M1; (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TGTATGCGATCAACCACCAGA	0.453		NaN											0	0	0	0.01441	0	60	128				
LCA5L	150082	broad.mit.edu	37	21	40794949	40794949	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:40794949A>G	uc002yxu.2	-	5	1103	c.790T>C	c.(790-792)TTA>CTA	p.L264L	LCA5L_uc002yxv.2_Silent_p.L264L|LCA5L_uc002yxw.1_Silent_p.L264L|LCA5L_uc002yxx.1_Silent_p.L126L|LCA5L_uc002yxy.2_RNA	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	264											0		Prostate(19;1.2e-06)				ATAATAGATAATTTATGAGTG	0.373		NaN											0	0	0	0.004672	0	3	159				
DSCAM	1826	broad.mit.edu	37	21	42080497	42080497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:42080497G>A	uc002yyq.1	-	2	696	c.244C>T	c.(244-246)CAA>TAA	p.Q82*	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	82	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGAAAATTTGGAGAGTGCCG	0.502		NaN											0	0	0	0.004007	0	14	144				
RIPK4	54101	broad.mit.edu	37	21	43161781	43161781	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43161781C>T	uc002yzn.1	-	8	1620	c.1572G>A	c.(1570-1572)TTG>TTA	p.L524L		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	524						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CGTTCTTCTCCAACAGCAGCC	0.622		NaN											0	0	0	0.00278	0	23	80				
PRDM15	63977	broad.mit.edu	37	21	43221851	43221851	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43221851G>T	uc002yzq.1	-	31	4184	c.4073C>A	c.(4072-4074)ACC>AAC	p.T1358N	PRDM15_uc002yzo.2_Missense_Mutation_p.T1029N|PRDM15_uc002yzp.2_Missense_Mutation_p.T1049N|PRDM15_uc002yzr.1_Missense_Mutation_p.T1049N	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGATGGTGTGGTCACATTTGG	0.557		NaN											1	0	1.23904e-05	0.000602	1.34202e-05	4	77				
MCM3AP	8888	broad.mit.edu	37	21	47655203	47655203	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:47655203C>A	uc002zir.1	-	28	5958	c.5922G>T	c.(5920-5922)CTG>CTT	p.L1974L	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L469L|MCM3AP_uc002zip.1_Silent_p.L715L|MCM3AP_uc002ziq.1_Silent_p.L901L|MCM3APAS_uc002zis.1_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1974					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCATGTCTAGCAGCGCAGAGA	0.507		NaN											1	0	0.00024832	0.009096	0.000262621	4	68				
POLR2F	5435	broad.mit.edu	37	22	38355472	38355472	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:38355472G>T	uc003aul.2	+	3	331	c.210G>T	c.(208-210)GCG>GCT	p.A70A	POLR2F_uc010gxi.2_Missense_Mutation_p.A64S|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	70					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					GCACCCGAGCGCTCCAGATTG	0.587		NaN											1	0	3.65163e-15	0.00632	4.36467e-15	26	121				
TAB1	10454	broad.mit.edu	37	22	39817833	39817833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:39817833G>A	uc003axt.2	+	8	827	c.778G>A	c.(778-780)GCT>ACT	p.A260T	TAB1_uc003axr.2_Missense_Mutation_p.A336T|TAB1_uc011aok.1_Missense_Mutation_p.A94T|TAB1_uc003axu.1_Missense_Mutation_p.A260T	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	260	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						TCCCCATAGCGCTGCCAAGTC	0.547		NaN											0	0	0	0.006214	0	8	34				
FAM83F	113828	broad.mit.edu	37	22	40415273	40415273	+	Silent	SNP	C	C	T	rs141929176		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:40415273C>T	uc003ayk.1	+	2	685	c.591C>T	c.(589-591)GAC>GAT	p.D197D		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	197										breast(1)	1						TCATCCTGGACGAGGCAGGAG	0.527		NaN											0	0	0	0.010729	0	12	59				
ZC3H7B	23264	broad.mit.edu	37	22	41752423	41752423	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41752423C>T	uc003azw.2	+	21	2676	c.2460C>T	c.(2458-2460)ATC>ATT	p.I820I	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	836					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GGACCCCCATCAGTTCTCGGG	0.617		NaN											0	0	0	0.014323	0	22	139				
ZC3H7B	23264	broad.mit.edu	37	22	41753225	41753225	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41753225G>A	uc003azw.2	+	23	2942	c.2726G>A	c.(2725-2727)TGC>TAC	p.C909Y	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	925	C3H1-type 4.|Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AAGTGCCGCTGCGCCCATGGA	0.662		NaN											0	0	0	0.001168	0	6	38				
ACO2	50	broad.mit.edu	37	22	41923345	41923345	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41923345G>C	uc003bac.2	+	16	2029	c.2007G>C	c.(2005-2007)TCG>TCC	p.S669S	ACO2_uc003bad.2_Silent_p.S694S|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	669					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GCGAGGGCTCGAGCCGGGAGC	0.617		NaN									OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	19	17				
TCF20	6942	broad.mit.edu	37	22	42606218	42606218	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:42606218C>A	uc003bcj.1	-	1	5228	c.5094G>T	c.(5092-5094)TCG>TCT	p.S1698S	TCF20_uc003bck.1_Silent_p.S1698S|TCF20_uc003bnt.2_Silent_p.S1698S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						GCCCCATAACCGAAGACTCTG	0.557		NaN											1	0	1.56452e-12	0.007413	1.84276e-12	17	64				
SELO	83642	broad.mit.edu	37	22	50649091	50649091	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50649091G>A	uc011arr.1	+	5	1160	c.1102G>A	c.(1102-1104)GAC>AAC	p.D368N	SELO_uc010hap.2_Missense_Mutation_p.D179N|SELO_uc003bjy.2_Missense_Mutation_p.D48N|SELO_uc003bjz.2_Missense_Mutation_p.D48N	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	368											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAATGCCTCCGACAACACCGG	0.672		NaN									OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	24	35				
MIOX	55586	broad.mit.edu	37	22	50927504	50927504	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50927504C>T	uc003bll.1	+	6	558	c.444C>T	c.(442-444)TGC>TGT	p.C148C	MIOX_uc003blm.1_Silent_p.C148C|MIOX_uc003bln.1_Missense_Mutation_p.A159V	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	148					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCGGATGCCGTCCGCAGG	0.667		NaN											0	0	0	0.009096	0	3	7				
ATP2B2	491	broad.mit.edu	37	3	10417161	10417161	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:10417161C>G	uc003bvt.2	-	11	1808	c.1369G>C	c.(1369-1371)GAG>CAG	p.E457Q	ATP2B2_uc003bvv.2_Missense_Mutation_p.E412Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.E412Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.E162Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	457	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGAGCCCCTCGGGCACGGCG	0.622		NaN											0	0	0	0.003954	0	22	90				
ARPP21	10777	broad.mit.edu	37	3	35770879	35770879	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:35770879G>T	uc003cgb.2	+	15	1574	c.1310G>T	c.(1309-1311)GGT>GTT	p.G437V	ARPP21_uc003cga.2_Missense_Mutation_p.G383V|ARPP21_uc011axy.1_Missense_Mutation_p.G403V|ARPP21_uc003cgf.2_Missense_Mutation_p.G238V|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	437						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CTAGTCTCAGGTGTGGCAGCT	0.587		NaN											1	0	5.18039e-06	0.00308	5.67176e-06	7	49				
VILL	50853	broad.mit.edu	37	3	38047993	38047993	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38047993C>A	uc003chj.2	+	19	2545	c.2259C>A	c.(2257-2259)GCC>GCA	p.A753A	VILL_uc003chl.2_Silent_p.A753A	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	753					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGCAGGTGCCGTGGCCCTGC	0.622		NaN											1	0	5.19286e-32	0.01441	6.47505e-32	63	69				
SCN10A	6336	broad.mit.edu	37	3	38739807	38739807	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38739807T>G	uc003ciq.2	-	27	4904	c.4904A>C	c.(4903-4905)GAG>GCG	p.E1635A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1635	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATGCCAGCCTCCCACCTCAC	0.552		NaN											0	0	0	0.000602	0	5	171				
RTP3	83597	broad.mit.edu	37	3	46542298	46542298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:46542298G>A	uc003cps.1	+	2	676	c.608G>A	c.(607-609)TGC>TAC	p.C203Y		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	203	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCCTACGCATGCCAAAACCAC	0.428		NaN											0	0	0	0.009096	0	4	72				
SMARCC1	6599	broad.mit.edu	37	3	47755937	47755937	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:47755937C>T	uc003crq.2	-	8	878	c.760G>A	c.(760-762)GAA>AAA	p.E254K	SMARCC1_uc011bbd.1_Missense_Mutation_p.E145K	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	254					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGTGGATCTTCAATTTCAGCA	0.244		NaN											0	0	0	0.00632	0	22	49		Valid		
OR5K2	402135	broad.mit.edu	37	3	98217282	98217282	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:98217282G>T	uc011bgx.1	+	1	758	c.758G>T	c.(757-759)GGA>GTA	p.G253V		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TTATTCTATGGATCTATTTTT	0.328		NaN											1	0	0.00829132	0.008291	0.00861103	10	50				
RPL24	6152	broad.mit.edu	37	3	101400024	101400024	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:101400024C>A	uc003dvh.1	-	6	472	c.429G>T	c.(427-429)GTG>GTT	p.V143V	RPL24_uc003dvi.1_Nonstop_Mutation_p.*122L	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TCACAGGCTTCACAATCTTTT	0.383		NaN											1	0	8.20599e-20	0.011902	1.00767e-19	38	106				
MYLK	4638	broad.mit.edu	37	3	123419119	123419119	+	Missense_Mutation	SNP	C	C	T	rs72491150		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:123419119C>T	uc003ego.2	-	18	3478	c.3196G>A	c.(3196-3198)GAA>AAA	p.E1066K	MYLK_uc011bjw.1_Missense_Mutation_p.E1066K|MYLK_uc003egp.2_Missense_Mutation_p.E997K|MYLK_uc003egq.2_Missense_Mutation_p.E1066K|MYLK_uc003egr.2_Missense_Mutation_p.E997K|MYLK_uc003egs.2_Missense_Mutation_p.E890K|MYLK_uc003egt.2_Missense_Mutation_p.E257K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1066	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTTGAGTTCTTCTTTGCTA	0.527		NaN											0	0	0	0.01441	0	141	162				
NEK11	79858	broad.mit.edu	37	3	130871348	130871348	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:130871348G>A	uc003eny.2	+	8	1090	c.764G>A	c.(763-765)AGA>AAA	p.R255K	NEK11_uc003enx.2_Missense_Mutation_p.R255K|NEK11_uc003eoa.2_Missense_Mutation_p.R255K|NEK11_uc003enz.2_Missense_Mutation_p.R73K|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.R107K|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.R255K|NEK11_uc010hto.1_Missense_Mutation_p.R107K	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	255	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						CTCCCTGAGAGATATCCAAAA	0.333		NaN											0	0	0	0.007413	0	19	84				
MED12L	116931	broad.mit.edu	37	3	151102914	151102914	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:151102914A>G	uc003eyp.2	+	34	4956	c.4918A>G	c.(4918-4920)ATG>GTG	p.M1640V	MED12L_uc011bnz.1_Missense_Mutation_p.M1500V|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.M803V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1640					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTGAACCTATGGGTTCCTT	0.348		NaN											0	0	0	0.01441	0	109	77				
GPR149	344758	broad.mit.edu	37	3	154055940	154055940	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:154055940T>C	uc003faa.2	-	4	1844	c.1744A>G	c.(1744-1746)ATA>GTA	p.I582V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	582	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGGAGTTATTTTTTGCCCT	0.453		NaN											0	0	0	0.001984	0	6	272				
PLCH1	23007	broad.mit.edu	37	3	155212182	155212182	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:155212182G>T	uc011bok.1	-	15	2260	c.1983C>A	c.(1981-1983)CGC>CGA	p.R661R	PLCH1_uc011boj.1_Silent_p.R661R|PLCH1_uc011bol.1_Silent_p.R643R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	661	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGAATCAATGCGGTAGGCAG	0.453		NaN											1	0	0.000602214	0.000602	0.000628668	5	80				
VEPH1	79674	broad.mit.edu	37	3	156983384	156983384	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:156983384G>A	uc003fbj.1	-	13	2513	c.2196C>T	c.(2194-2196)TTC>TTT	p.F732F	VEPH1_uc003fbk.1_Silent_p.F732F|VEPH1_uc010hvu.1_Silent_p.F687F	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	732	PH.					plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCTTTTGATGAACTTCCATC	0.383		NaN											0	0	0	0.01441	0	55	60				
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:168845829G>T	uc003ffi.3	-	4	338	c.69C>A	c.(67-69)TGC>TGA	p.C23*	MECOM_uc010hwk.1_Nonsense_Mutation_p.C46*|MECOM_uc003ffj.3_Nonsense_Mutation_p.C87*|MECOM_uc011bpi.1_Nonsense_Mutation_p.C23*|MECOM_uc003ffn.3_Nonsense_Mutation_p.C23*|MECOM_uc003ffk.2_Nonsense_Mutation_p.C23*|MECOM_uc003ffl.2_Nonsense_Mutation_p.C183*|MECOM_uc011bpj.1_Nonsense_Mutation_p.C211*|MECOM_uc011bpk.1_Nonsense_Mutation_p.C13*|MECOM_uc010hwn.2_Nonsense_Mutation_p.C211*|MECOM_uc003ffm.1_Nonsense_Mutation_p.C87*	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	23	C2H2-type 1.|Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CACAGTCTTCGCAGCGATATT	0.433		NaN											1	0	0.00010058	0.013537	0.000107214	12	120				
ARPM1	84517	broad.mit.edu	37	3	169485742	169485742	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:169485742C>G	uc003ffs.1	-	2	972	c.597G>C	c.(595-597)TTG>TTC	p.L199F	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	199						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGCACTGAGCAACATGATAC	0.468		NaN											0	0	0	0.006214	0	7	118				
MFN1	55669	broad.mit.edu	37	3	179082125	179082125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:179082125G>C	uc003fjs.2	+	6	703	c.577G>C	c.(577-579)GAT>CAT	p.D193H	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D221H|MFN1_uc010hxc.2_Missense_Mutation_p.D46H	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	193	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAGCTGGATTGATAAGTTTTG	0.338		NaN											0	0	0	0.001168	0	5	57				
KNG1	3827	broad.mit.edu	37	3	186459867	186459867	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:186459867C>T	uc011bsa.1	+	10	1894	c.1682C>T	c.(1681-1683)TCT>TTT	p.S561F	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	561					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTTACCTTTTCTGACTTTCAG	0.473		NaN											0	0	0	0.00308	0	8	103				
MASP1	5648	broad.mit.edu	37	3	187003830	187003830	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:187003830T>C	uc003frh.1	-	2	352	c.20A>G	c.(19-21)TAT>TGT	p.Y7C	MASP1_uc003fri.2_Missense_Mutation_p.Y7C|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Missense_Mutation_p.Y7C|MASP1_uc011bse.1_5'UTR	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	7					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGAGCATAATAGAGAAGCAG	0.468		NaN											0	0	0	0.001984	0	7	48				
MFSD7	84179	broad.mit.edu	37	4	677066	677066	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:677066C>G	uc003gay.2	-	8	1144	c.1087G>C	c.(1087-1089)GAG>CAG	p.E363Q	MFSD7_uc003gaw.2_Missense_Mutation_p.E105Q|MFSD7_uc003gax.2_Missense_Mutation_p.E362Q|MFSD7_uc003gaz.2_Missense_Mutation_p.E244Q|MFSD7_uc003gba.2_Missense_Mutation_p.E266Q|MFSD7_uc003gbb.1_Missense_Mutation_p.E298Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	363					transmembrane transport	integral to membrane					0						ACCGCCAACTCCATGGCCACG	0.667		NaN											0	0	0	0.00308	0	6	70				
PPP2R2C	5522	broad.mit.edu	37	4	6325278	6325278	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:6325278G>T	uc003gjc.2	-	9	1465	c.1095C>A	c.(1093-1095)TTC>TTA	p.F365L	PPP2R2C_uc003gjb.2_Missense_Mutation_p.F348L|PPP2R2C_uc011bwd.1_Missense_Mutation_p.F358L|PPP2R2C_uc011bwe.1_Missense_Mutation_p.F358L|PPP2R2C_uc003gja.2_Missense_Mutation_p.F365L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	365	WD 6.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGTTCCGATCGAACATGCGGA	0.622		NaN											1	0	3.59834e-05	0.001168	3.85604e-05	6	21				
BOD1L	259282	broad.mit.edu	37	4	13602053	13602053	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:13602053G>C	uc003gmz.1	-	10	6588	c.6471C>G	c.(6469-6471)TCC>TCG	p.S2157S	BOD1L_uc010idr.1_Silent_p.S1494S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2157							DNA binding			ovary(5)|breast(1)	6						TTGTTGCACTGGAGATAGGCA	0.498		NaN											0	0	0	0.012319	0	21	47				
AFP	174	broad.mit.edu	37	4	74320990	74320990	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:74320990G>T	uc003hgz.1	+	14	1870	c.1823G>T	c.(1822-1824)GGA>GTA	p.G608V	AFP_uc003hha.1_Intron|AFP_uc011cbg.1_Missense_Mutation_p.G382V	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	608					transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTTTGGGAGTTTAAATT	0.313		NaN							Alpha-Fetoprotein_Hereditary_Persistence_of				1	0	1.75199e-13	0.007291	2.07567e-13	27	57				
COPS4	51138	broad.mit.edu	37	4	83989596	83989596	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83989596A>T	uc003hoa.2	+	9	1147	c.1008A>T	c.(1006-1008)GAA>GAT	p.E336D	COPS4_uc003hob.2_Missense_Mutation_p.E336D|COPS4_uc010ijw.2_Missense_Mutation_p.E368D|COPS4_uc010ijx.2_Intron	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	336	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				AATAGGCGGAAAAGATAGCAT	0.328		NaN											0	0	0	0.00245	0	13	52				
AFF1	4299	broad.mit.edu	37	4	88036209	88036209	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:88036209C>G	uc003hqj.3	+	11	2610	c.2203C>G	c.(2203-2205)CGC>GGC	p.R735G	AFF1_uc011ccz.1_Missense_Mutation_p.R742G|AFF1_uc003hqk.3_Missense_Mutation_p.R735G|AFF1_uc011cda.1_Missense_Mutation_p.R373G	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	735						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAGGACAGCCGCAAAGACAG	0.607		NaN											0	0	0	0.00245	0	10	22				
TACR3	6870	broad.mit.edu	37	4	104510983	104510983	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:104510983T>C	uc003hxe.1	-	5	1397	c.1254A>G	c.(1252-1254)GCA>GCG	p.A418A		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	418	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGTGGTGTCTGCATCGTTGG	0.517		NaN											0	0	0	0.001855	0	13	168				
COL25A1	84570	broad.mit.edu	37	4	109740467	109740467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:109740467C>T	uc003hze.1	-	35	2395	c.1864G>A	c.(1864-1866)GGG>AGG	p.G622R	COL25A1_uc003hzd.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	622	Extracellular (Potential).|Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTTTTCCCCCTTAACGCCA	0.463		NaN											0	0	0	0.009096	0	3	26				
KIAA0922	23240	broad.mit.edu	37	4	154502664	154502664	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:154502664G>A	uc003inm.3	+	9	896	c.844G>A	c.(844-846)GAT>AAT	p.D282N	KIAA0922_uc010ipp.2_Missense_Mutation_p.D282N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D134N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	282	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACATTTGTTAGATCATCTCTC	0.318		NaN											0	0	0	0.008871	0	20	28				
FGA	2243	broad.mit.edu	37	4	155505643	155505644	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:155505643_155505644CC>AA	uc003iod.1	-	6	2291_2292	c.2233_2234GG>TT	c.(2233-2235)GGC>TTC	p.G745F		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	745	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCAGAGCCTACCCGGAAG	0.525		NaN											0	0	0	0.004672	0	14	44				
WWC2	80014	broad.mit.edu	37	4	184129307	184129307	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:184129307G>C	uc010irx.2	+	3	625	c.443G>C	c.(442-444)AGC>ACC	p.S148T	WWC2_uc003ivk.3_5'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	148	Potential.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTCACACAAGCTGTAAGTAC	0.423		NaN											0	0	0	0.009096	0	4	13				
FRG1	2483	broad.mit.edu	37	4	190862215	190862215	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:190862215C>A	uc003izs.2	+	1	242	c.51C>A	c.(49-51)ACC>ACA	p.T17T	uc003izq.2_5'Flank	NM_004477	NP_004468	Q14331	FRG1_HUMAN	FSHD region gene 1	17	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus					0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCAAGGGAACCAAGACGAAGA	0.632		NaN									OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00909568	0.009096	0.00939809	4	15				
ZNF622	90441	broad.mit.edu	37	5	16465637	16465637	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:16465637G>T	uc003jfq.2	-	1	258	c.138C>A	c.(136-138)GGC>GGA	p.G46G		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	46						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						GCTCCTGGAAGCCCTCGGCGG	0.662		NaN											1	0	5.9392e-07	0.001168	6.62828e-07	5	169				
RAI14	26064	broad.mit.edu	37	5	34823943	34823943	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:34823943A>C	uc003jir.2	+	15	2192	c.1996A>C	c.(1996-1998)AAA>CAA	p.K666Q	RAI14_uc010iur.2_Missense_Mutation_p.K637Q|RAI14_uc011coj.1_Missense_Mutation_p.K666Q|RAI14_uc003jis.2_Missense_Mutation_p.K669Q|RAI14_uc003jit.2_Missense_Mutation_p.K666Q|RAI14_uc011cok.1_Missense_Mutation_p.K658Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	666	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CAGGAAGAGGAAATCTCTAGA	0.448		NaN											0	0	0	0.00308	0	8	80				
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:45303809G>A	uc003jok.2	-	6	1535	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	504	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTCCTTCTCGTATGATATAA	0.403		NaN											0	0	0	0.01441	0	50	152				
ADAMTS6	11174	broad.mit.edu	37	5	64748566	64748566	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:64748566T>G	uc003jtp.2	-	5	1625	c.811A>C	c.(811-813)ATT>CTT	p.I271L	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	271	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TAATGTTCAATGTCTTTGCGG	0.368		NaN											0	0	0	0.005524	0	33	28				
MCCC2	64087	broad.mit.edu	37	5	70930791	70930791	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:70930791C>A	uc003kbs.3	+	9	963	c.825C>A	c.(823-825)CAC>CAA	p.H275Q	MCCC2_uc010iyv.1_Missense_Mutation_p.H275Q|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.H144Q	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	275	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAGTGACCACTGGGCTTTGG	0.368		NaN											1	0	9.45814e-24	0.004878	1.16853e-23	36	28				
ARRDC3	57561	broad.mit.edu	37	5	90669643	90669643	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:90669643T>C	uc003kjz.2	-	7	1286	c.1046A>G	c.(1045-1047)TAT>TGT	p.Y349C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	349					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CACTTCTGCATAGCTGGGTGG	0.428		NaN											0	0	0	0.004289	0	38	26				
SLC12A2	6558	broad.mit.edu	37	5	127471428	127471428	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:127471428A>T	uc003kus.2	+	7	1500	c.1336A>T	c.(1336-1338)ATT>TTT	p.I446F	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.I446F	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	446	Helical; (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTCTTGCTATTGGTGATTT	0.264		NaN											0	0	0	0.000602	0	3	55				
ETF1	2107	broad.mit.edu	37	5	137849377	137849377	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:137849377A>C	uc003ldc.3	-	5	586	c.421T>G	c.(421-423)TCA>GCA	p.S141A	ETF1_uc011cyv.1_Missense_Mutation_p.S127A|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S108A|ETF1_uc010jey.1_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	141					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATCATCTGAAAGTAGTGCT	0.403		NaN											0	0	0	0.00333	0	22	19				
PCDHB5	26167	broad.mit.edu	37	5	140517289	140517289	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140517289C>G	uc003liq.2	+	1	2490	c.2273C>G	c.(2272-2274)TCA>TGA	p.S758*		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	758	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGAGACTCAGGGGCCGGC	0.592		NaN											0	0	0	0.00278	0	24	108				
PCDHGB3	56102	broad.mit.edu	37	5	140751625	140751625	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140751625G>A	uc003ljw.1	+	1	1664	c.1664G>A	c.(1663-1665)CGC>CAC	p.R555H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R555H|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACGACCGCAACGACAAT	0.667		NaN											0	0	0	0.009096	0	3	30				
FBXW11	23291	broad.mit.edu	37	5	171318553	171318553	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171318553C>T	uc003mbm.1	-	6	1078	c.707G>A	c.(706-708)CGC>CAC	p.R236H	FBXW11_uc011dey.1_Missense_Mutation_p.R204H|FBXW11_uc003mbl.1_Missense_Mutation_p.R223H|FBXW11_uc003mbn.1_Missense_Mutation_p.R202H	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	236					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.N260_I262(1)|p.R236C(1)		ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTTCAGAGCGGCACTGAAT	0.378		NaN											0	0	0	0.000602	0	5	44				
FGFR4	2264	broad.mit.edu	37	5	176518005	176518005	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:176518005T>A	uc003mfl.2	+	5	670	c.503T>A	c.(502-504)GTC>GAC	p.V168D	FGFR4_uc003mfm.2_Missense_Mutation_p.V168D|FGFR4_uc011dfu.1_Missense_Mutation_p.V168D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.V168D|FGFR4_uc003mfo.2_Missense_Mutation_p.V168D	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	168	Extracellular (Potential).|Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGGAACACCGTCAAGTTCCGC	0.612		NaN								TSP Lung(9;0.080)			0	0	0	0.00245	0	14	11				
ZNF354C	30832	broad.mit.edu	37	5	178503483	178503483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:178503483G>A	uc003mju.2	+	3	180	c.65G>A	c.(64-66)AGC>AAC	p.S22N		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGTTCTTCAGCCAGGACGAG	0.542		NaN											0	0	0	0.001855	0	13	42				
FAM50B	26240	broad.mit.edu	37	6	3850672	3850672	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:3850672G>A	uc003mvu.2	+	2	739	c.627G>A	c.(625-627)GTG>GTA	p.V209V		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	209						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCAACACGGTGCAGCAGTTCC	0.647		NaN											0	0	0	0.013726	0	35	53				
NKAPL	222698	broad.mit.edu	37	6	28228103	28228103	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:28228103C>A	uc003nkt.2	+	1	1006	c.954C>A	c.(952-954)ATC>ATA	p.I318I	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	318										upper_aerodigestive_tract(1)|ovary(1)	2						GAAAGCGAATCCCACGAAGAG	0.463		NaN											1	0	3.59834e-05	0.001168	3.85604e-05	6	105				
ZFP57	346171	broad.mit.edu	37	6	29640795	29640796	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:29640795_29640796GG>CT	uc011dlw.1	-	4	1243_1244	c.1092_1093CC>AG	c.(1090-1095)ACCCTC>ACAGTC	p.L365V	ZFP57_uc003nnl.3_Missense_Mutation_p.L345V	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	281					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TCCTGACAGAGGGTTCCAGTGA	0.49		NaN											0	0	0	0.004672	0	124	88				
TRIM10	10107	broad.mit.edu	37	6	30128418	30128418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:30128418C>T	uc003npo.3	-	1	294	c.218G>A	c.(217-219)TGG>TAG	p.W73*	TRIM10_uc003npn.2_Nonsense_Mutation_p.W73*|TRIM15_uc010jrx.2_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	73						cytoplasm	zinc ion binding				0						AGCCAGCTGCCAGTTGGGCCG	0.592		NaN											0	0	0	0.01441	0	102	60				
POU5F1	5460	broad.mit.edu	37	6	31133762	31133762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:31133762C>G	uc003nsv.2	-	2	522	c.468G>C	c.(466-468)AAG>AAC	p.K156N	POU5F1_uc003nsu.2_Missense_Mutation_p.K61N|uc011dnf.1_RNA	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	POU domain, class 5, transcription factor 1	156	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						GGGTGATCCTCTTCTGCTTCA	0.498		NaN	T	EWSR1	sarcoma								0	0	0	0.014323	0	21	13				
C6orf222	389384	broad.mit.edu	37	6	36291124	36291126	+	Missense_Mutation	TNP	TGG	TGG	CTT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:36291124_36291126TGG>CTT	uc003oly.2	-	8	1593_1595	c.1415_1417CCA>AAG	c.(1414-1419)CCCAGC>CAAGGC	p.472_473PS>QG		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	472_473										skin(2)|ovary(1)|breast(1)	4						GGCAGAAAGCTGGGCCTCTTGGG	0.616		NaN											0	0	0	0.004672	0	21	64				
TRERF1	55809	broad.mit.edu	37	6	42236926	42236926	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:42236926G>T	uc003osd.2	-	5	966	c.403C>A	c.(403-405)CTT>ATT	p.L135I	TRERF1_uc011duq.1_Missense_Mutation_p.L135I|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Missense_Mutation_p.L135I	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	135					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCTGGTAAGCTTCTGGGTC	0.562		NaN											1	0	2.18419e-29	0.01441	2.71512e-29	58	170				
KHDRBS2	202559	broad.mit.edu	37	6	62887182	62887182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:62887182C>A	uc003peg.2	-	2	374	c.127G>T	c.(127-129)GAA>TAA	p.E43*		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCTTCGTCTTCCTTTTTTCCA	0.343		NaN											1	0	0.000157383	0.00308	0.000166884	7	8				
PHIP	55023	broad.mit.edu	37	6	79650578	79650578	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:79650578C>G	uc003pir.2	-	40	5524	c.5298G>C	c.(5296-5298)ATG>ATC	p.M1766I	PHIP_uc003piq.2_Missense_Mutation_p.M790I|PHIP_uc011dyp.1_Missense_Mutation_p.M1765I|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.M652I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1766					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTAGTTCTCATGTGGGGTT	0.408		NaN											0	0	0	0.01441	0	96	661				
ORC3L	23595	broad.mit.edu	37	6	88331710	88331710	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:88331710G>C	uc003pmh.2	+	11	1208	c.1164G>C	c.(1162-1164)TTG>TTC	p.L388F	ORC3L_uc011dzl.1_Missense_Mutation_p.L388F|ORC3L_uc011dzm.1_Missense_Mutation_p.L388F|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.L388F|ORC3L_uc003pmi.2_Missense_Mutation_p.L350F|ORC3L_uc011dzo.1_Missense_Mutation_p.L245F|ORC3L_uc011dzp.1_Missense_Mutation_p.L245F	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	388					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		TTGCGCTCTTGACCAATGAGA	0.313		NaN											0	0	0	0.010729	0	10	57				
MDN1	23195	broad.mit.edu	37	6	90354787	90354787	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:90354787G>A	uc003pnn.1	-	101	16665	c.16549C>T	c.(16549-16551)CGG>TGG	p.R5517W		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5517	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGCATTCCGGGCAGCCTGA	0.483		NaN											0	0	0	0.001168	0	6	48				
HSF2	3298	broad.mit.edu	37	6	122733619	122733619	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:122733619G>A	uc003pyu.2	+	2	382	c.195G>A	c.(193-195)CTG>CTA	p.L65L	HSF2_uc003pyt.3_Silent_p.L65L|HSF2_uc003pyv.2_Silent_p.L65L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	65	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGAGGCAACTGAATATGTGTG	0.373		NaN											0	0	0	0.01441	0	47	39				
C6orf174	387104	broad.mit.edu	37	6	127796469	127796469	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:127796469C>A	uc003qbd.2	-	6	3567	c.2702G>T	c.(2701-2703)CGC>CTC	p.R901L	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	901						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTCGGCGCCGCGGTCGTCCGC	0.667		NaN											1	0	3.59834e-05	0.001168	3.85604e-05	4	68				
NUDT1	4521	broad.mit.edu	37	7	2284269	2284269	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:2284269G>C	uc003slp.1	+	3	231	c.129G>C	c.(127-129)CTG>CTC	p.L43L	FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Silent_p.L20L|NUDT1_uc003slr.1_Silent_p.L20L|NUDT1_uc003sls.1_Silent_p.L43L|NUDT1_uc003slt.1_Silent_p.L20L|NUDT1_uc003slu.1_Silent_p.L43L|NUDT1_uc003slv.1_Silent_p.L20L	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	61	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGTTCTCCTGGGCATGAAAA	0.602		NaN						Direct_reversal_of_damage|Modulation_of_nucleotide_pools					0	0	0	0.004289	0	35	35				
AOAH	313	broad.mit.edu	37	7	36633960	36633960	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:36633960A>C	uc003tfh.3	-	12	1324	c.923T>G	c.(922-924)CTG>CGG	p.L308R	AOAH_uc010kxf.2_Missense_Mutation_p.L308R|AOAH_uc011kba.1_Missense_Mutation_p.L276R	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	308					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						AGTGGAGTCCAGAAATCCTGT	0.448		NaN											0	0	0	0.009096	0	4	86				
GPR141	353345	broad.mit.edu	37	7	37780823	37780823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:37780823C>G	uc003tfm.1	+	1	828	c.828C>G	c.(826-828)AGC>AGG	p.S276R	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	276	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						CAGCAATTAGCTGCTATGATT	0.378		NaN											0	0	0	0.008291	0	10	152				
H2AFV	94239	broad.mit.edu	37	7	44880564	44880564	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:44880564G>A	uc003tma.2	-	3	284	c.129C>T	c.(127-129)AGC>AGT	p.S43S	H2AFV_uc003tlz.2_Silent_p.S43S|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.S43S|H2AFV_uc003tmd.2_Silent_p.S17S	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	43					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCCTTCCATGGCTTGTGGTGC	0.512		NaN											0	0	0	0.000602	0	5	58				
ABCA13	154664	broad.mit.edu	37	7	48280473	48280473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:48280473C>T	uc003toq.2	+	10	1097	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	358					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GGTGTTTGTTCAGTGGCAACA	0.408		NaN											0	0	0	0.00333	0	23	51				
POM121	9883	broad.mit.edu	37	7	72412672	72412672	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:72412672T>C	uc003twk.2	+	11	2140	c.2140T>C	c.(2140-2142)TCC>CCC	p.S714P	POM121_uc003twj.2_Missense_Mutation_p.S449P|POM121_uc010lam.1_Missense_Mutation_p.S449P	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	714	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CACCTCACCTTCCAGCCCTGC	0.607		NaN											0	0	0	0.00308	0	6	76				
PILRA	29992	broad.mit.edu	37	7	99987517	99987517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:99987517C>T	uc003uuo.1	+	3	673	c.461C>T	c.(460-462)ACG>ATG	p.T154M	PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Intron|PILRA_uc003uuq.1_Intron	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	154	Extracellular (Potential).				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCTGTCACGACCACCACC	0.612		NaN											0	0	0	0.00308	0	7	62				
LMOD2	442721	broad.mit.edu	37	7	123296034	123296034	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:123296034A>G	uc003vky.2	+	1	174	c.17A>G	c.(16-18)TAC>TGC	p.Y6C		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	6	Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding				0						ACCTTTGGCTACCGAAGAGGA	0.557		NaN											0	0	0	0.009096	0	3	6				
TEX15	56154	broad.mit.edu	37	8	30704189	30704189	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:30704189C>T	uc003xil.2	-	1	2345	c.2345G>A	c.(2344-2346)AGG>AAG	p.R782K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	782										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAATCCTGGCCTAAATATATT	0.353		NaN											0	0	0	0.004482	0	8	85				
ADAM9	8754	broad.mit.edu	37	8	38948794	38948794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:38948794C>G	uc003xmr.2	+	20	2305	c.2227C>G	c.(2227-2229)CAA>GAA	p.Q743E	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	743	Cytoplasmic (Potential).			Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGCAAAAATCAAGCAAACCC	0.338		NaN											0	0	0	0.001855	0	14	149				
MOS	4342	broad.mit.edu	37	8	57025924	57025924	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:57025924G>T	uc011leb.1	-	1	618	c.618C>A	c.(616-618)AAC>AAA	p.N206K		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	206	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGATCAAGATGTTCGCGGGCT	0.483		NaN											1	0	3.41278e-10	0.00499	3.98487e-10	18	32				
NSMAF	8439	broad.mit.edu	37	8	59503463	59503463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:59503463G>A	uc003xtt.2	-	24	2196	c.1982C>T	c.(1981-1983)TCA>TTA	p.S661L	NSMAF_uc011lee.1_Missense_Mutation_p.S692L	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	661					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TAGCATTTTTGATTCTTTAGA	0.289		NaN											0	0	0	0.010729	0	11	22				
CSPP1	79848	broad.mit.edu	37	8	68049786	68049786	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:68049786G>T	uc003xxi.2	+	17	2044	c.2013G>T	c.(2011-2013)TGG>TGT	p.W671C	CSPP1_uc003xxg.1_Missense_Mutation_p.W663C|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.W636C|CSPP1_uc003xxk.2_Missense_Mutation_p.W342C	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	671						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAATCCCTGGGGAAAAGGTG	0.348		NaN											1	0	9.70103e-10	0.008291	1.12298e-09	11	21				
RAD54B	25788	broad.mit.edu	37	8	95392549	95392549	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392549C>T	uc003ygk.2	-	12	2169	c.2071G>A	c.(2071-2073)GAT>AAT	p.D691N	RAD54B_uc010may.1_Missense_Mutation_p.D498N	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTTGTCCATCAAGTCTTGTA	0.363		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.004656	0	23	39				
HRSP12	10247	broad.mit.edu	37	8	99118512	99118512	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:99118512C>T	uc003yii.1	-	3	308	c.214G>A	c.(214-216)GAC>AAC	p.D72N		NM_005836	NP_005827	P52758	UK114_HUMAN	heat-responsive protein 12	72					regulation of translational termination	nucleus	endonuclease activity			ovary(1)	1	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTAGTGAAGTCACAGCCTGCA	0.363		NaN											0	0	0	0.008291	0	11	89				
OXR1	55074	broad.mit.edu	37	8	107718630	107718631	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:107718630_107718631GA>TG	uc011lht.1	+	8	983_984	c.884_885GA>TG	c.(883-885)GGA>GTG	p.G295V	OXR1_uc003ymf.2_Missense_Mutation_p.G294V|OXR1_uc011lhu.1_Missense_Mutation_p.G287V|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_5'UTR|OXR1_uc003ymg.1_Missense_Mutation_p.G227V|OXR1_uc003ymi.1_Missense_Mutation_p.G206V	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	295					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAGCTATCAGGAAGGGACTTCT	0.351		NaN											0	0	0	0.004672	0	9	62				
TG	7038	broad.mit.edu	37	8	133941430	133941430	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:133941430C>T	uc003ytw.2	+	23	4850	c.4809C>T	c.(4807-4809)TGC>TGT	p.C1603C	TG_uc010mdw.2_Silent_p.C362C|TG_uc011ljb.1_Silent_p.C36C|TG_uc003ytx.1_RNA	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1603	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGATGCAGTGCTTGACAGGTG	0.468		NaN											0	0	0	0.004672	0	3	87				
COL22A1	169044	broad.mit.edu	37	8	139833571	139833571	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:139833571G>A	uc003yvd.2	-	7	1500	c.1053C>T	c.(1051-1053)TTC>TTT	p.F351F		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	351	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCGGAAGACCACCC	0.582		NaN								HNSCC(7;0.00092)			0	0	0	0.001984	0	7	86				
DNAI1	27019	broad.mit.edu	37	9	34514409	34514409	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:34514409C>T	uc003zum.2	+	17	1780	c.1587C>T	c.(1585-1587)TCC>TCT	p.S529S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	529					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATCCTACTCCAGCCAATTCC	0.567		NaN							Kartagener_syndrome				0	0	0	0.01441	0	82	63				
GNE	10020	broad.mit.edu	37	9	36276944	36276944	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:36276944C>T	uc010mlj.2	-	1	98	c.96G>A	c.(94-96)TCG>TCA	p.S32S	CLTA_uc003zzf.1_Intron|GNE_uc010mli.2_5'UTR	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	Error:Variant_position_missing_in_Q9Y223_after_alignment					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GTTTCCATCCCGAAGCACGAG	0.433		NaN											0	0	0	0.01441	0	46	68				
RORB	6096	broad.mit.edu	37	9	77257389	77257389	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:77257389A>G	uc004aji.2	+	4	377	c.328A>G	c.(328-330)AAG>GAG	p.K110E	RORB_uc004ajh.2_Missense_Mutation_p.K99E	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	110	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						TGAGGTgcagaagcaccagca	0.413		NaN											0	0	0	0.00308	0	7	37				
NAA35	60560	broad.mit.edu	37	9	88635862	88635862	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:88635862G>T	uc004aoi.3	+	22	2233	c.2096G>T	c.(2095-2097)GGA>GTA	p.G699V	NAA35_uc004aoj.3_Missense_Mutation_p.G699V	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	699					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				skin(2)|central_nervous_system(1)	3						TTATTGGCAGGAGGACACAAA	0.313		NaN											1	0	2.56e-06	0.009096	2.81809e-06	3	27				
ECM2	1842	broad.mit.edu	37	9	95285103	95285103	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:95285103G>C	uc004ash.2	-	2	111	c.46C>G	c.(46-48)CAA>GAA	p.Q16E	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.Q16E|ECM2_uc011lty.1_Missense_Mutation_p.Q16E|ECM2_uc004asg.2_Missense_Mutation_p.Q16E|ECM2_uc011ltz.1_Missense_Mutation_p.Q16E|ECM2_uc004asi.2_Missense_Mutation_p.Q16E	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	16					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						AAGTCAGTTTGAAAAATGATA	0.338		NaN											0	0	0	0.010504	0	21	18				
TNFSF8	944	broad.mit.edu	37	9	117692469	117692469	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:117692469A>C	uc004bji.1	-	1	302	c.115T>G	c.(115-117)TTC>GTC	p.F39V		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	39	Helical; Signal-anchor for type II membrane protein; (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						GTCAAATAGAAATAGCTGCGG	0.592		NaN											0	0	0	0.001984	0	6	65				
GARNL3	84253	broad.mit.edu	37	9	130119519	130119519	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:130119519C>A	uc011mae.1	+	21	2358	c.1957C>A	c.(1957-1959)CCC>ACC	p.P653T	GARNL3_uc011mad.1_Missense_Mutation_p.P631T|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	653	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCTGACTCTCCCATGGTGAT	0.527		NaN											1	0	1.33834e-09	0.007413	1.54482e-09	15	28				
KIAA0649	9858	broad.mit.edu	37	9	138379116	138379116	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:138379116C>T	uc004cfr.1	+	4	3309	c.2760C>T	c.(2758-2760)TTC>TTT	p.F920F		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	920						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CTGGTCTGTTCAGCCAGGGCG	0.701		NaN											0	0	0	0.004656	0	27	68				
CCNB3	85417	broad.mit.edu	37	X	50094645	50094645	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:50094645G>T	uc004dox.3	+	13	4429	c.4131G>T	c.(4129-4131)ATG>ATT	p.M1377I	CCNB3_uc004doy.2_Missense_Mutation_p.M1377I|CCNB3_uc004doz.2_Missense_Mutation_p.M273I|CCNB3_uc010njq.2_Missense_Mutation_p.M269I|CCNB3_uc004dpa.2_Missense_Mutation_p.M216I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1377					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CCTTGGATATGTTGAAGCTGG	0.473		NaN											1	0	3.09899e-07	0.004482	3.46812e-07	7	12				
TGIF2LX	90316	broad.mit.edu	37	X	89177393	89177393	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:89177393T>A	uc004efe.2	+	2	358	c.309T>A	c.(307-309)AAT>AAA	p.N103K		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	103	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GGTTTATCAATGCTCGCAGAC	0.473		NaN											0	0	0	0.014323	0	23	88				
COL4A6	1288	broad.mit.edu	37	X	107413848	107413848	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107413848C>T	uc004enw.3	-	35	3590	c.3487G>A	c.(3487-3489)GGA>AGA	p.G1163R	COL4A6_uc004env.3_Missense_Mutation_p.G1162R|COL4A6_uc011msn.1_Missense_Mutation_p.G1162R|COL4A6_uc010npk.2_Missense_Mutation_p.G1162R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1163	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCTTTGGGTCCTATTAATCCG	0.498		NaN							Alport_syndrome_with_Diffuse_Leiomyomatosis				0	0	0	0.009718	0	36	56				
COL4A5	1287	broad.mit.edu	37	X	107850090	107850090	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107850090G>A	uc004enz.1	+	29	2565	c.2363G>A	c.(2362-2364)CGC>CAC	p.R788H	COL4A5_uc011mso.1_Missense_Mutation_p.R788H|COL4A5_uc004eob.1_Missense_Mutation_p.R396H	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	788	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCTCCAGGACGCACTGGCTTA	0.517		NaN							Alport_syndrome_with_Diffuse_Leiomyomatosis				0	0	0	0.008871	0	19	17				
MOSPD1	56180	broad.mit.edu	37	X	134033531	134033531	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:134033531G>C	uc004eyb.2	-	2	120	c.-67C>G	c.(-69--65)ATCTA>ATGTA		MOSPD1_uc004eya.2_Translation_Start_Site|MOSPD1_uc010nrv.2_RNA|MOSPD1_uc011mvr.1_Translation_Start_Site	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACTTTTCTTAGATTCAGTTAA	0.363		NaN											0	0	0	0.013537	0	12	10				
SPANXE	171489	broad.mit.edu	37	X	140785779	140785779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140785779T>C	uc004fbq.2	-	2	230	c.137A>G	c.(136-138)GAG>GGG	p.E46G		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	46						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					GGTCGAGGACTCAGATGTTTT	0.493		NaN											0	0	0	0.001984	0	7	88				
MAGEC3	139081	broad.mit.edu	37	X	140969237	140969237	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140969237G>T	uc011mwp.1	+	4	564	c.564G>T	c.(562-564)GTG>GTT	p.V188V		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	188	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAAGGTGGACAAGTTGG	0.453		NaN											1	0	1.32136e-16	0.00874	1.59352e-16	43	26				
SLC35E2	9906	broad.mit.edu	37	1	1669760	1669760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:1669760C>A	uc001aib.1	-	4	1002	c.586G>T	c.(586-588)GGA>TGA	p.G196*	SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Missense_Mutation_p.G196W|SLC35E2_uc001ahy.2_Nonsense_Mutation_p.G196*|SLC35E2_uc001ahz.2_Nonsense_Mutation_p.G196*	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	196						integral to membrane				pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGGCCTCACCTGTGTACTCC	0.647		NaN											1	0	0.000602214	0.014758	0.000630224	4	11				
CAMTA1	23261	broad.mit.edu	37	1	7724195	7724195	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:7724195A>T	uc001aoi.2	+	9	1795	c.1588A>T	c.(1588-1590)AAG>TAG	p.K530*		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGTCCTCACCAAGGAGATCAA	0.637		NaN											0	0	0	0.021553	0	5	59				
EIF4G3	8672	broad.mit.edu	37	1	21221934	21221934	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:21221934T>C	uc001bec.2	-	12	2148	c.1892A>G	c.(1891-1893)GAC>GGC	p.D631G	EIF4G3_uc010odi.1_Missense_Mutation_p.D235G|EIF4G3_uc010odj.1_Missense_Mutation_p.D630G|EIF4G3_uc009vpz.2_Missense_Mutation_p.D351G|EIF4G3_uc001bed.2_Missense_Mutation_p.D631G|EIF4G3_uc001bef.2_Missense_Mutation_p.D630G|EIF4G3_uc001bee.2_Missense_Mutation_p.D637G	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	631					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAACTGGAAGTCCAGCAGAAA	0.463		NaN											0	0	0	0.004482	0	7	72				
EXTL1	2134	broad.mit.edu	37	1	26349162	26349162	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:26349162T>G	uc001blf.2	+	1	892	c.25T>G	c.(25-27)TCC>GCC	p.S9A		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	9	Cytoplasmic (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAGAAAGTCCCTGTGGCT	0.667		NaN											0	0	0	0.009096	0	4	63				
IQCC	55721	broad.mit.edu	37	1	32673403	32673403	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32673403T>A	uc001bum.2	+	5	1168	c.1121T>A	c.(1120-1122)TTG>TAG	p.L374*	IQCC_uc009vua.2_Nonsense_Mutation_p.L454*|IQCC_uc010ogz.1_Nonsense_Mutation_p.L274*|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	374										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACACAAGAGTTGGGCCTCTCA	0.532		NaN											0	0	0	0.016723	0	13	120				
EIF3I	8668	broad.mit.edu	37	1	32690056	32690056	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32690056G>C	uc001bur.3	+	5	763	c.230G>C	c.(229-231)CGT>CCT	p.R77P	C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.R77P|EIF3I_uc001bus.2_Missense_Mutation_p.R29P	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	77	WD 2.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AACAGCTGTCGTCTCTGGGAC	0.473		NaN											0	0	0	0.014758	0	4	50				
MAP7D1	55700	broad.mit.edu	37	1	36636690	36636690	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:36636690G>T	uc001bzz.2	+	2	381	c.165G>T	c.(163-165)ATG>ATT	p.M55I	MAP7D1_uc001caa.2_Missense_Mutation_p.M55I|MAP7D1_uc001cab.2_Missense_Mutation_p.M55I|MAP7D1_uc001cac.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	55	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CTCCTGCCATGAAGAATGCCA	0.652		NaN											1	0	2.74318e-10	0.006214	3.12514e-10	9	88				
KTI12	112970	broad.mit.edu	37	1	52499087	52499087	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:52499087C>T	uc001ctj.1	-	1	386	c.347G>A	c.(346-348)GGA>GAA	p.G116E	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	116							ATP binding			central_nervous_system(2)	2						CACCTGAGGTCCCGCGATCGG	0.701		NaN											0	0	0	0.021553	0	5	65				
SCP2	6342	broad.mit.edu	37	1	53504595	53504595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:53504595G>A	uc001cur.1	+	14	1466	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.E368K|SCP2_uc010onp.1_Missense_Mutation_p.E425K|SCP2_uc009vzi.1_Missense_Mutation_p.E405K|SCP2_uc010onq.1_Missense_Mutation_p.E45K|SCP2_uc001cut.1_Missense_Mutation_p.E42K|SCP2_uc001cuu.1_Intron	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	449	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						CCAGGAAGGGGAACAGTTTGT	0.423		NaN											0	0	0	0.010729	0	10	110				
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:92709803G>A	uc001doq.2	+	4	262	c.190G>A	c.(190-192)GAA>AAA	p.E64K	C1orf146_uc010ote.1_Missense_Mutation_p.E5K	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	hypothetical protein LOC388649	64										ovary(1)	1		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299		NaN											0	0	0	0.021553	0	6	42				
NTNG1	22854	broad.mit.edu	37	1	107937933	107937933	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:107937933G>C	uc001dvh.3	+	4	1763	c.1045G>C	c.(1045-1047)GGC>CGC	p.G349R	NTNG1_uc001dvf.3_Missense_Mutation_p.G349R|NTNG1_uc010out.1_Missense_Mutation_p.G349R|NTNG1_uc001dvc.3_Missense_Mutation_p.G349R|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R21T|NTNG1_uc001dvd.1_Missense_Mutation_p.G349R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	349	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CATCCCCAAAGGCACTGCAAA	0.453		NaN											0	0	0	0.02938	0	6	94				
STXBP3	6814	broad.mit.edu	37	1	109342863	109342863	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:109342863G>A	uc001dvy.2	+	17	1546	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	491					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAATAGATTAGATTCAAAAGA	0.338		NaN											0	0	0	0.004482	0	9	42				
MAGI3	260425	broad.mit.edu	37	1	114201796	114201796	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:114201796G>C	uc001edk.2	+	16	2905	c.2724G>C	c.(2722-2724)GGG>GGC	p.G908G	MAGI3_uc001edh.3_Silent_p.G933G|MAGI3_uc001edi.3_Silent_p.G908G|MAGI3_uc010owm.1_Silent_p.G933G|MAGI3_uc001edj.2_Silent_p.G629G	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	933	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGAATGGGCAGTCCATTG	0.453		NaN											0	0	0	0.008291	0	11	93				
SLC22A15	55356	broad.mit.edu	37	1	116569600	116569600	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:116569600A>G	uc001egb.3	+	5	815	c.685A>G	c.(685-687)ATT>GTT	p.I229V	SLC22A15_uc001ega.2_Missense_Mutation_p.I229V	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	229	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GACCCTAGCCATTCTGGTTAA	0.433		NaN											0	0	0	0.00308	0	8	105				
GATAD2B	57459	broad.mit.edu	37	1	153792155	153792155	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:153792155T>C	uc001fdb.3	-	3	636	c.392A>G	c.(391-393)AAT>AGT	p.N131S		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGCCTCATTGTCAGACAA	0.398		NaN											0	0	0	0.020292	0	13	90				
ASH1L	55870	broad.mit.edu	37	1	155449667	155449667	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:155449667C>G	uc009wqq.2	-	3	3474	c.2994G>C	c.(2992-2994)TTG>TTC	p.L998F	ASH1L_uc001fkt.2_Missense_Mutation_p.L998F|ASH1L_uc009wqr.1_Missense_Mutation_p.L998F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	998					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATCTGATTCAACAGTTTCT	0.313		NaN											0	0	0	0.014758	0	5	75				
APOA1BP	128240	broad.mit.edu	37	1	156563828	156563828	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:156563828G>A	uc001fph.2	+	6	858	c.819G>A	c.(817-819)CTG>CTA	p.L273L	APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Missense_Mutation_p.E255K|APOA1BP_uc001fpj.2_Silent_p.L190L|APOA1BP_uc001fpk.2_Silent_p.L170L|APOA1BP_uc010php.1_Silent_p.L170L	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	273	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTACCAGCTGAACCTGCCAC	0.547		NaN											0	0	0	0.008291	0	7	106				
ARHGAP30	257106	broad.mit.edu	37	1	161018826	161018826	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:161018826T>C	uc001fxl.2	-	12	2331	c.1985A>G	c.(1984-1986)CAG>CGG	p.Q662R	ARHGAP30_uc001fxk.2_Missense_Mutation_p.Q662R|ARHGAP30_uc001fxm.2_Missense_Mutation_p.Q508R|ARHGAP30_uc009wtx.2_Missense_Mutation_p.Q335R|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q508R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	662	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGCTCAGCCTGCTTGTCCTC	0.617		NaN											0	0	0	0.024334	0	26	145				
FMO4	2329	broad.mit.edu	37	1	171303803	171303803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:171303803G>C	uc001gho.2	+	8	1298	c.1081G>C	c.(1081-1083)GAG>CAG	p.E361Q		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	361					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTAAACCTAGAGAGAGCGAC	0.403		NaN											0	0	0	0.008291	0	10	92				
TPR	7175	broad.mit.edu	37	1	186329966	186329966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186329966C>G	uc001grv.2	-	10	1327	c.1030G>C	c.(1030-1032)GAG>CAG	p.E344Q	TPR_uc010pop.1_Missense_Mutation_p.E420Q	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	344	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTATTTTCTCAAGCATTTCT	0.348		NaN	T	NTRK1	papillary thyroid								0	0	0	0.004672	0	3	51				
TPR	7175	broad.mit.edu	37	1	186330823	186330823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186330823C>G	uc001grv.2	-	9	1186	c.889G>C	c.(889-891)GAA>CAA	p.E297Q	TPR_uc010pop.1_Missense_Mutation_p.E373Q	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	297	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTTTGCTTCTGAGTCATCA	0.373		NaN	T	NTRK1	papillary thyroid								0	0	0	0.00308	0	7	78				
MYBPH	4608	broad.mit.edu	37	1	203139485	203139485	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203139485C>T	uc001gzh.1	-	7	1086	c.1027G>A	c.(1027-1029)GAA>AAA	p.E343K	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	343	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CACAGGTTTTCTGAGAAGACC	0.597		NaN											0	0	0	0.004672	0	3	48				
LAX1	54900	broad.mit.edu	37	1	203743363	203743363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203743363G>A	uc001haa.2	+	5	1161	c.751G>A	c.(751-753)GAC>AAC	p.D251N	LAX1_uc010pql.1_Missense_Mutation_p.D235N|LAX1_uc001hab.2_Missense_Mutation_p.D175N	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	251	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGCTGAGGACAGTGATTC	0.488		NaN											0	0	0	0.021553	0	5	40				
SLC26A9	115019	broad.mit.edu	37	1	205902176	205902177	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:205902176_205902177CC>AT	uc001hdq.2	-	3	275_276	c.161_162GG>AT	c.(160-162)GGG>GAT	p.G54D	SLC26A9_uc001hdp.2_Missense_Mutation_p.G54D	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	54	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGGCAGCAGCCCAAACACCAC	0.55		NaN											0	0	0	0.004672	0	6	42				
CABC1	56997	broad.mit.edu	37	1	227174193	227174193	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227174193G>T	uc001hqm.1	+	20	5118	c.1699G>T	c.(1699-1701)GGG>TGG	p.G567W	CABC1_uc001hqn.1_Missense_Mutation_p.G567W|CABC1_uc009xeq.1_Missense_Mutation_p.G515W|CABC1_uc010pvq.1_Missense_Mutation_p.G288W|CABC1_uc010pvr.1_Missense_Mutation_p.G241W|CABC1_uc001hqo.1_Missense_Mutation_p.G288W|CABC1_uc009xer.1_Missense_Mutation_p.G83W	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	567					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCTCATCCTGGGGGAGGCCTT	0.587		NaN											1	0	0.000157383	0.00308	0.000167958	8	56				
CDC42BPA	8476	broad.mit.edu	37	1	227227863	227227863	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227227863C>G	uc001hqr.2	-	23	4006	c.3063G>C	c.(3061-3063)GTG>GTC	p.V1021V	CDC42BPA_uc001hqq.2_Silent_p.V320V|CDC42BPA_uc001hqs.2_Silent_p.V940V|CDC42BPA_uc009xes.2_Silent_p.V993V|CDC42BPA_uc010pvs.1_Silent_p.V1001V|CDC42BPA_uc001hqp.2_Silent_p.V177V|CDC42BPA_uc001hqu.1_Silent_p.V228V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1034	Phorbol-ester/DAG-type.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TTATTAAACCCACCATCAAGG	0.343		NaN											0	0	0	0.004482	0	8	58				
LYST	1130	broad.mit.edu	37	1	235972029	235972029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:235972029G>A	uc001hxj.2	-	5	2264	c.2089C>T	c.(2089-2091)CAG>TAG	p.Q697*	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.Q697*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	697	WD 1.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAAGTTCTGATAAGCCTTT	0.368		NaN							Chediak-Higashi_syndrome				0	0	0	0.021553	0	6	52				
RYR2	6262	broad.mit.edu	37	1	237756804	237756804	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:237756804G>A	uc001hyl.1	+	33	4424	c.4304G>A	c.(4303-4305)GGA>GAA	p.G1435E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1435	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTTTCCTGGACAAGAACCT	0.393		NaN											0	0	0	0.02938	0	6	49				
AHCTF1	25909	broad.mit.edu	37	1	247053295	247053295	+	Missense_Mutation	SNP	C	C	T	rs140782802	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:247053295C>T	uc001ibu.1	-	16	2124	c.2117G>A	c.(2116-2118)CGT>CAT	p.R706H	AHCTF1_uc001ibv.1_Missense_Mutation_p.R715H|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	706	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCTGTCGACGACTGGTGTA	0.343		NaN											0	0	0	0.014323	0	21	113				
C10orf18	54906	broad.mit.edu	37	10	5762896	5762896	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:5762896C>G	uc001iij.2	+	6	734	c.109C>G	c.(109-111)CTT>GTT	p.L37V		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	37										ovary(1)|central_nervous_system(1)	2						TGATATAGCTCTTTGGTCCAC	0.333		NaN											0	0	0	0.008291	0	11	71				
SEC61A2	55176	broad.mit.edu	37	10	12204226	12204226	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:12204226G>T	uc001ile.2	+	11	1329	c.1182G>T	c.(1180-1182)CTG>CTT	p.L394L	SEC61A2_uc010qbq.1_Silent_p.L372L|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Silent_p.L394L	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	394	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				CTAAACAGCTGAAAGAACAGC	0.458		NaN											1	0	1.15088e-07	0.028581	1.29474e-07	14	193				
ERCC6	2074	broad.mit.edu	37	10	50732248	50732248	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:50732248C>T	uc001jhs.3	-	5	1382	c.1228G>A	c.(1228-1230)GGC>AGC	p.G410S	PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G410S|PGBD3_uc001jhu.2_Missense_Mutation_p.G410S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	410					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CGTTTCCCGCCCTTGGGCAGA	0.393		NaN						Direct_reversal_of_damage|NER					0	0	0	0.004672	0	3	69				
ARID5B	84159	broad.mit.edu	37	10	63829550	63829550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:63829550A>G	uc001jlt.1	+	8	1219	c.1193A>G	c.(1192-1194)TAT>TGT	p.Y398C	ARID5B_uc001jlu.1_Missense_Mutation_p.Y155C	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCAGACATTATGAAAGGTAA	0.418		NaN											0	0	0	0.014758	0	4	31				
ACTA2	59	broad.mit.edu	37	10	90701132	90701132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:90701132G>A	uc001kfp.2	-	6	586	c.470C>T	c.(469-471)TCT>TTT	p.S157F	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.S112F|ACTA2_uc001kfq.2_Missense_Mutation_p.S157F	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	157					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCTCCAGAGTCCAGCAC	0.562		NaN											0	0	0	0.014758	0	4	50				
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105182763C>T	uc001kwy.1	+	18	2603	c.2516C>T	c.(2515-2517)ACG>ATG	p.T839M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527		NaN											0	0	0	0.009096	0	3	49				
C10orf79	80217	broad.mit.edu	37	10	105953694	105953694	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105953694C>T	uc001kxw.2	-	11	1488	c.1372G>A	c.(1372-1374)GTA>ATA	p.V458I	C10orf79_uc001kxx.3_Missense_Mutation_p.V459I|C10orf79_uc001kxy.1_Missense_Mutation_p.V459I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	458	WD 7.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTATCATATACGCTGATGAAG	0.552		NaN											0	0	0	0.008291	0	11	58				
SORCS3	22986	broad.mit.edu	37	10	106982877	106982877	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:106982877C>A	uc001kyi.1	+	20	2965	c.2738C>A	c.(2737-2739)CCT>CAT	p.P913H	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	913	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCTTAGGTCCTGTGGAGCAT	0.428		NaN											1	0	7.48243e-07	0.006214	8.31381e-07	10	83				
ATRNL1	26033	broad.mit.edu	37	10	117704277	117704277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:117704277G>A	uc001lcg.2	+	29	4513	c.4127G>A	c.(4126-4128)GGA>GAA	p.G1376E	ATRNL1_uc010qsm.1_Missense_Mutation_p.G505E|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1376	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACACGTCAAGGAACTTGTGTC	0.413		NaN											0	0	0	0.024245	0	14	91				
INPP5F	22876	broad.mit.edu	37	10	121563770	121563770	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:121563770C>T	uc001leo.2	+	10	1368	c.1202C>T	c.(1201-1203)TCA>TTA	p.S401L		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	401	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTCAACAACTCACACCTCACT	0.418		NaN											0	0	0	0.008291	0	10	108				
DUSP8	1850	broad.mit.edu	37	11	1579411	1579411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1579411G>A	uc001lts.2	-	5	756	c.628C>T	c.(628-630)CGG>TGG	p.R210W		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ATGGGGACCCGCATGAAGCGG	0.582		NaN											0	0	0	0.009096	0	4	104				
TNNI2	7136	broad.mit.edu	37	11	1861878	1861878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1861878G>A	uc010qxe.1	+	3	200	c.178G>A	c.(178-180)GAA>AAA	p.E60K	TNNI2_uc010qxc.1_Missense_Mutation_p.E58K|TNNI2_uc010qxd.1_Missense_Mutation_p.E58K	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	60					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCCATGTCTGAAGTGCAGGT	0.667		NaN											0	0	0	0.014758	0	4	32				
OR51S1	119692	broad.mit.edu	37	11	4869937	4869937	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:4869937G>A	uc010qyo.1	-	1	502	c.502C>T	c.(502-504)CCA>TCA	p.P168S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	168	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGAATGGCAGGGGCAGA	0.552		NaN											0	0	0	0.02938	0	5	92				
SMPD1	6609	broad.mit.edu	37	11	6415196	6415196	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:6415196G>A	uc001mcw.2	+	5	1585	c.1411G>A	c.(1411-1413)GAA>AAA	p.E471K	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.E427K|SMPD1_uc009yew.2_Missense_Mutation_p.E470K	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	469					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CTTCTATGATGAAGAGACTCT	0.527		NaN											0	0	0	0.02938	0	7	65				
EIF4G2	1982	broad.mit.edu	37	11	10821761	10821761	+	Silent	SNP	T	T	C	rs140144694		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:10821761T>C	uc001mjc.2	-	18	2412	c.1995A>G	c.(1993-1995)CTA>CTG	p.L665L	EIF4G2_uc001mjb.2_Silent_p.L459L|EIF4G2_uc009ygf.2_Silent_p.L459L|EIF4G2_uc001mjd.2_Silent_p.L627L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	665	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCCACTTTCTAGTGGTTGAG	0.423		NaN											0	0	0	0.008291	0	11	49				
MICAL2	9645	broad.mit.edu	37	11	12265655	12265655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:12265655G>A	uc001mjz.2	+	21	3068	c.2780G>A	c.(2779-2781)AGA>AAA	p.R927K	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R927K|MICAL2_uc010rci.1_Missense_Mutation_p.R927K|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	927						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCTCCTGCCAGAAAGGTAGTT	0.502		NaN											0	0	0	0.0333	0	14	187				
ABCC8	6833	broad.mit.edu	37	11	17474774	17474774	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:17474774G>A	uc001mnc.2	-	7	1194	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	ABCC8_uc010rcy.1_Silent_p.Y355Y	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	356	Helical; Name=7; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGCTAAGACGTAGGCATTGG	0.458		NaN											0	0	0	0.014758	0	4	70				
LMO2	4005	broad.mit.edu	37	11	33886306	33886306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:33886306G>T	uc001mve.2	-	2	538	c.99C>A	c.(97-99)TGC>TGA	p.C33*	LMO2_uc001mvc.2_Nonsense_Mutation_p.C26*|LMO2_uc001mvd.2_Nonsense_Mutation_p.C26*|LMO2_uc010rel.1_Nonsense_Mutation_p.C33*|LMO2_uc010rem.1_Nonsense_Mutation_p.C102*	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	33	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						TGTTCTGCTGGCAGCCGCCGC	0.627		NaN	T	TRD@	T-ALL								1	0	5.9392e-07	0.021553	6.62638e-07	6	48				
TM7SF2	7108	broad.mit.edu	37	11	64883439	64883439	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:64883439G>C	uc001oct.2	+	10	1318	c.1171G>C	c.(1171-1173)GAG>CAG	p.E391Q	TM7SF2_uc010rny.1_Missense_Mutation_p.E275Q|TM7SF2_uc001ocu.2_Missense_Mutation_p.E364Q|TM7SF2_uc001ocv.2_Missense_Mutation_p.E412Q|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	391					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						GGCCCGGGATGAGCGGCAGTG	0.622		NaN											0	0	0	0.009096	0	4	36				
MOGAT2	80168	broad.mit.edu	37	11	75439097	75439097	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:75439097G>A	uc010rru.1	+	4	558	c.558G>A	c.(556-558)GGG>GGA	p.G186G	MOGAT2_uc001oww.1_Silent_p.G186G|MOGAT2_uc010rrv.1_Silent_p.G104G	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	186					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					TCATTGTAGGGGGTGCCCAGG	0.562		NaN											0	0	0	0.004672	0	3	38				
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Silent	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:82877725A>C	uc001ozx.3	+	5	2131	c.1786A>C	c.(1786-1788)AGA>CGA	p.R596R	PCF11_uc010rsu.1_Silent_p.R596R	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	596					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GTCTGCCAAAAGATGGAAATC	0.348		NaN											0	0	0	0.014758	0	4	75				
FAT3	120114	broad.mit.edu	37	11	92087450	92087450	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:92087450T>G	uc001pdj.3	+	1	2189	c.2172T>G	c.(2170-2172)TAT>TAG	p.Y724*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	724	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGACCATATTTTGACAAGT	0.403		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.010504	0	18	155				
CCDC67	159989	broad.mit.edu	37	11	93103298	93103298	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:93103298G>C	uc001pdq.2	+	6	592	c.492G>C	c.(490-492)CTG>CTC	p.L164L	CCDC67_uc001pdo.1_Silent_p.L164L|CCDC67_uc001pdp.2_Silent_p.L164L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	164	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGACTCATCTGATTTCTTTAG	0.289		NaN											0	0	0	0.014758	0	5	14				
CASP5	838	broad.mit.edu	37	11	104868181	104868181	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:104868181A>C	uc010rva.1	-	8	1167	c.1135T>G	c.(1135-1137)TTC>GTC	p.F379V	CASP5_uc010ruz.1_Missense_Mutation_p.F392V|CASP5_uc010rvb.1_Missense_Mutation_p.F321V|CASP5_uc010rvc.1_Missense_Mutation_p.F237V|CASP5_uc009yxh.2_Missense_Mutation_p.F161V|CASP5_uc010rvd.1_Missense_Mutation_p.F161V	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	379					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCCGTAATGAAGATGGAGCCC	0.408		NaN											0	0	0	0.02938	0	6	39				
ARCN1	372	broad.mit.edu	37	11	118452000	118452000	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:118452000G>A	uc001ptq.2	+	2	204	c.43G>A	c.(43-45)GCT>ACT	p.A15T	ARCN1_uc009zah.2_Missense_Mutation_p.A15T|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.A56T	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	15					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCAGGAAAGGCTATTGTTTC	0.428		NaN											0	0	0	0.020292	0	12	109				
IGSF9B	22997	broad.mit.edu	37	11	133794727	133794727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:133794727C>T	uc001qgx.3	-	15	2338	c.2107G>A	c.(2107-2109)GTC>ATC	p.V703I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V545I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	703	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGAGACGCCGGCGATG	0.562		NaN											0	0	0	0.014758	0	4	94				
SCNN1A	6337	broad.mit.edu	37	12	6483849	6483849	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:6483849T>C	uc001qnx.2	-	2	390	c.101A>G	c.(100-102)GAA>GGA	p.E34G	SCNN1A_uc001qnw.2_Missense_Mutation_p.E93G|SCNN1A_uc010sfb.1_Missense_Mutation_p.E57G|LTBR_uc010sfc.1_5'Flank	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	34	Cytoplasmic (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	CGCCGCAGGTTCGGGGCCCAG	0.642		NaN											0	0	0	0.004672	0	3	34				
CLEC1B	51266	broad.mit.edu	37	12	10149501	10149501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:10149501G>A	uc001qwu.2	-	4	582	c.382C>T	c.(382-384)CAG>TAG	p.Q128*	CLEC1B_uc009zhd.2_Nonsense_Mutation_p.Q95*	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	128	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						GTGCAGTACTGCTTACTCTCT	0.423		NaN											0	0	0	0.021553	0	6	127				
ETV6	2120	broad.mit.edu	37	12	12037408	12037408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:12037408C>T	uc001qzz.2	+	6	1313	c.1039C>T	c.(1039-1041)CAG>TAG	p.Q347*	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	347	ETS.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTACGTCTATCAGTTGCTTTC	0.443		NaN	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								0	0	0	0.028581	0	14	136				
AMN1	196394	broad.mit.edu	37	12	31850769	31850769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:31850769C>T	uc001rkq.3	-	4	605	c.439G>A	c.(439-441)GAT>AAT	p.D147N	AMN1_uc001rko.3_Missense_Mutation_p.D129N|AMN1_uc010skc.1_Missense_Mutation_p.D129N|AMN1_uc001rkp.3_Missense_Mutation_p.D129N|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog	147											0	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCACCTAAATCGATGATCTTT	0.418		NaN											0	0	0	0.009096	0	4	75				
AMIGO2	347902	broad.mit.edu	37	12	47472350	47472350	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:47472350G>T	uc001rpm.2	-	3	1091	c.436C>A	c.(436-438)CTT>ATT	p.L146I	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.L146I|AMIGO2_uc001rpl.2_Missense_Mutation_p.L146I	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	146	Extracellular (Potential).|LRR 4.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TAAAGCAGAAGCACTTCCAGA	0.408		NaN											1	0	5.18039e-06	0.00308	5.6858e-06	8	107				
ACCN2	41	broad.mit.edu	37	12	50453726	50453726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:50453726G>A	uc001rvw.2	+	3	776	c.547G>A	c.(547-549)GAC>AAC	p.D183N	ACCN2_uc001rvv.2_Missense_Mutation_p.D183N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D183N	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	183	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	CAGCGCTGAAGACTTCAAGGT	0.617		NaN											0	0	0	0.014758	0	5	39				
SLC4A8	9498	broad.mit.edu	37	12	51890800	51890800	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:51890800C>G	uc001rys.1	+	22	3151	c.2973C>G	c.(2971-2973)GTC>GTG	p.V991V	SLC4A8_uc001rym.2_Silent_p.V938V|SLC4A8_uc001ryn.2_Silent_p.V938V|SLC4A8_uc001ryo.2_Silent_p.V938V|SLC4A8_uc010snj.1_Silent_p.V1018V|SLC4A8_uc001ryr.2_Silent_p.V991V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	991	Cytoplasmic (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGGAAAGTCATGGATCTCT	0.398		NaN											0	0	0	0.021553	0	5	75				
RARG	5916	broad.mit.edu	37	12	53607445	53607445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:53607445T>C	uc001sce.2	-	8	1338	c.853A>G	c.(853-855)ACC>GCC	p.T285A	RARG_uc001scd.2_Missense_Mutation_p.T274A|RARG_uc010sob.1_Missense_Mutation_p.T263A|RARG_uc001scf.2_Missense_Mutation_p.T285A|RARG_uc001scg.2_Missense_Mutation_p.T213A|RARG_uc010soc.1_Missense_Mutation_p.T164A|RARG_uc010sod.1_Missense_Mutation_p.T322A	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	285	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCATGGTGTCCTGCTCT	0.597		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	57				
ZNF385A	25946	broad.mit.edu	37	12	54765456	54765456	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:54765456C>T	uc001sfw.1	-	4	588	c.405G>A	c.(403-405)GAG>GAA	p.E135E	ZNF385A_uc001sfv.1_Silent_p.E116E|ZNF385A_uc009zno.1_Intron|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Silent_p.E135E|ZNF385A_uc001sfy.3_Silent_p.E155E|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						CAGGCTGTTTCTCTGGGGATC	0.602		NaN											0	0	0	0.020292	0	13	63				
RNF41	10193	broad.mit.edu	37	12	56600547	56600547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:56600547C>T	uc001skf.1	-	7	1007	c.638G>A	c.(637-639)CGC>CAC	p.R213H	RNF41_uc001ske.1_Missense_Mutation_p.R142H|RNF41_uc001skg.1_Missense_Mutation_p.R213H|RNF41_uc010sqg.1_Missense_Mutation_p.R148H|RNF41_uc010sqh.1_Missense_Mutation_p.R142H	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	213					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CCCTCCCCAGCGGGTCACTCT	0.537		NaN									OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	31				
LGR5	8549	broad.mit.edu	37	12	71977788	71977788	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:71977788G>A	uc001swl.2	+	18	2046	c.1998G>A	c.(1996-1998)GTG>GTA	p.V666V	LGR5_uc001swm.2_Silent_p.V642V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	666	Cytoplasmic (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						GGTTCTCTGTGAAATATTCTG	0.463		NaN											0	0	0	0.016723	0	13	142				
TRHDE	29953	broad.mit.edu	37	12	73046177	73046177	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:73046177A>G	uc001sxa.2	+	16	2646	c.2616A>G	c.(2614-2616)ATA>ATG	p.I872M		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	872	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGGAATTCATATGGATGAAAT	0.398		NaN											0	0	0	0.021553	0	6	74				
HSP90B1	7184	broad.mit.edu	37	12	104336352	104336352	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336352G>A	uc001tkb.1	+	12	1527	c.1422G>A	c.(1420-1422)AAG>AAA	p.K474K	HSP90B1_uc010swg.1_Silent_p.K139K|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	474					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	TGATCAAGAAGATTGCTGATG	0.363		NaN											0	0	0	0.009096	0	4	54				
HSP90B1	7184	broad.mit.edu	37	12	104336359	104336359	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336359G>T	uc001tkb.1	+	12	1534	c.1429G>T	c.(1429-1431)GAT>TAT	p.D477Y	HSP90B1_uc010swg.1_Missense_Mutation_p.D142Y|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	477					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	GAAGATTGCTGATGATAAATA	0.363		NaN											1	0	0.00909568	0.009096	0.00944551	4	59				
HSP90B1	7184	broad.mit.edu	37	12	104336567	104336567	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336567G>C	uc001tkb.1	+	12	1742	c.1637G>C	c.(1636-1638)AGA>ACA	p.R546T	HSP90B1_uc010swg.1_Missense_Mutation_p.R211T|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	546					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	GGGTCCAGCAGAAAAGAGGTG	0.418		NaN											0	0	0	0.021553	0	6	71				
CIT	11113	broad.mit.edu	37	12	120159203	120159203	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:120159203G>A	uc001txi.1	-	28	3570	c.3517C>T	c.(3517-3519)CTG>TTG	p.L1173L	CIT_uc001txh.1_Silent_p.L707L|CIT_uc001txj.1_Silent_p.L1215L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1173	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTTGAGTCAGACGGAAAATG	0.468		NaN											0	0	0	0.010729	0	11	62				
GLT1D1	144423	broad.mit.edu	37	12	129373237	129373237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:129373237G>A	uc010tbh.1	+	3	247	c.238G>A	c.(238-240)GCC>ACC	p.A80T	GLT1D1_uc001uhx.1_Missense_Mutation_p.A91T|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	91					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAATGAAGATGCCAACCAGGC	0.438		NaN											0	0	0	0.009096	0	4	23				
GOLGA3	2802	broad.mit.edu	37	12	133374950	133374950	+	Silent	SNP	G	G	T	rs139706790		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:133374950G>T	uc001ukz.1	-	9	2473	c.1914C>A	c.(1912-1914)ATC>ATA	p.I638I	GOLGA3_uc001ula.1_Silent_p.I638I|GOLGA3_uc001ulb.2_Silent_p.I638I	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	638	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTGCCGCGATGCGCCCCT	0.587		NaN											1	0	8.12818e-05	0.02938	8.77844e-05	7	87				
TNFRSF19	55504	broad.mit.edu	37	13	24243107	24243107	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:24243107T>C	uc001uov.1	+	9	1180	c.1116T>C	c.(1114-1116)GCT>GCC	p.A372A	TNFRSF19_uc001uot.2_Silent_p.A372A|TNFRSF19_uc010tcu.1_Silent_p.A240A|TNFRSF19_uc001uow.2_Silent_p.A372A	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	372	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTACAGCAGCTACTGATTTAT	0.428		NaN											0	0	0	0.004672	0	3	86				
FAM123A	219287	broad.mit.edu	37	13	25744014	25744014	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:25744014A>T	uc001uqb.2	-	1	1844	c.1744T>A	c.(1744-1746)TCC>ACC	p.S582T	FAM123A_uc001uqa.2_Missense_Mutation_p.S463T|FAM123A_uc001uqc.2_Missense_Mutation_p.S463T	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	582										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTAACCGGGACAGGGAGGAC	0.567		NaN											0	0	0	0.021553	0	3	70				
KIAA0564	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:42385394A>C	uc001uyj.2	-	17	2100	c.2030T>G	c.(2029-2031)CTT>CGT	p.L677R	KIAA0564_uc001uyk.2_Missense_Mutation_p.L677R	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	677						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AGCACTGTGAAGATTTTCATT	0.383		NaN											0	0	0	0.02938	0	6	53				
NID2	22795	broad.mit.edu	37	14	52481073	52481073	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:52481073T>C	uc001wzo.2	-	16	3586	c.3352A>G	c.(3352-3354)ATT>GTT	p.I1118V	NID2_uc010tqs.1_Missense_Mutation_p.I1070V|NID2_uc010tqt.1_Missense_Mutation_p.I1118V|NID2_uc001wzp.2_Missense_Mutation_p.I1118V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1118						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTAGCCAATCTGCTGGCCC	0.592		NaN									OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	40				
LTBP2	4053	broad.mit.edu	37	14	74973930	74973930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:74973930G>C	uc001xqa.2	-	26	4246	c.3859C>G	c.(3859-3861)CTG>GTG	p.L1287V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1287	EGF-like 14; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGCAGCCCAGAACACAGCGG	0.567		NaN											0	0	0	0.00308	0	6	57				
BDKRB1	623	broad.mit.edu	37	14	96730151	96730151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:96730151C>G	uc001yfh.2	+	3	340	c.132C>G	c.(130-132)ATC>ATG	p.I44M	BDKRB1_uc010avn.2_Missense_Mutation_p.I44M	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	44	Helical; Name=1; (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAACATTTATCATCTCCATCT	0.542		NaN											0	0	0	0.009096	0	4	51				
AHNAK2	113146	broad.mit.edu	37	14	105408255	105408255	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408255G>T	uc010axc.1	-	7	13653	c.13533C>A	c.(13531-13533)CTC>CTA	p.L4511L	AHNAK2_uc001ypx.2_Silent_p.L4411L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4511						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGAATGCGGAGGTCAGTGG	0.622		NaN											1	0	1.33986e-20	0.024334	1.546e-20	27	154				
AHNAK2	113146	broad.mit.edu	37	14	105408514	105408514	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408514G>A	uc010axc.1	-	7	13394	c.13274C>T	c.(13273-13275)TCT>TTT	p.S4425F	AHNAK2_uc001ypx.2_Missense_Mutation_p.S4325F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4425						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGGGCAGAGACACGTCCAG	0.622		NaN											0	0	0	0.028581	0	14	145				
CORO2B	10391	broad.mit.edu	37	15	68937670	68937671	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:68937670_68937671GG>AT	uc002arj.3	+	2	216_217	c.187_188GG>AT	c.(187-189)GGC>ATC	p.G63I	CORO2B_uc010bic.2_Missense_Mutation_p.G58I	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	63					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CGCAGGGGGCGGCTCCTTCCTC	0.624		NaN											0	0	0	0.004672	0	4	68				
TSPAN3	10099	broad.mit.edu	37	15	77345133	77345133	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77345133C>A	uc002bcj.2	-	5	788	c.571G>T	c.(571-573)GAC>TAC	p.D191Y	TSPAN3_uc002bck.2_Missense_Mutation_p.D166Y|TSPAN3_uc010ump.1_Missense_Mutation_p.D127Y|TSPAN3_uc010bkx.2_Missense_Mutation_p.D102Y	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	191	Extracellular (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		GCATAGAGGTCGGAAGGGTGG	0.478		NaN											1	0	3.59834e-05	0.021553	3.90181e-05	5	25				
SGK269	79834	broad.mit.edu	37	15	77472430	77472430	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77472430C>T	uc002bcm.2	-	3	2147	c.1839G>A	c.(1837-1839)GAG>GAA	p.E613E	SGK269_uc002bcn.2_Silent_p.E613E	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	613					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CATAAGTTGGCTCGTCATGAA	0.348		NaN											0	0	0	0.016723	0	11	142				
TMC3	342125	broad.mit.edu	37	15	81625521	81625521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:81625521C>T	uc002bgo.1	-	22	2542	c.2542G>A	c.(2542-2544)GAA>AAA	p.E848K	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	848	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						TGTACATCTTCGATGTGCGTT	0.527		NaN											0	0	0	0.004482	0	9	93				
DET1	55070	broad.mit.edu	37	15	89074506	89074506	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:89074506C>A	uc002bmr.2	-	2	583	c.431G>T	c.(430-432)TGT>TTT	p.C144F	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.C155F	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	144						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAAGAGACTACACTCCCGGTT	0.537		NaN											1	0	0.000602214	0.014758	0.000630224	5	25				
NR2F2	7026	broad.mit.edu	37	15	96880592	96880592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:96880592C>T	uc010uri.1	+	3	2210	c.986C>T	c.(985-987)TCT>TTT	p.S329F	NR2F2_uc002btp.2_Missense_Mutation_p.S196F|NR2F2_uc010urj.1_Missense_Mutation_p.S176F|NR2F2_uc010urk.1_Missense_Mutation_p.S176F	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	329	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGTGGTCTCTCTGATGTAGCC	0.353		NaN											0	0	0	0.021553	0	6	66				
ZNF263	10127	broad.mit.edu	37	16	3339743	3339743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3339743G>T	uc002cuq.2	+	6	1569	c.1237G>T	c.(1237-1239)GAA>TAA	p.E413*	ZNF263_uc010uww.1_Nonsense_Mutation_p.E61*|ZNF263_uc002cur.2_Nonsense_Mutation_p.E61*	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	413					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GGACTGCACTGAAATCTTTGG	0.473		NaN											1	0	3.09899e-07	0.004482	3.47189e-07	9	91				
CREBBP	1387	broad.mit.edu	37	16	3817750	3817750	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3817750G>C	uc002cvv.2	-	16	3425	c.3221C>G	c.(3220-3222)TCA>TGA	p.S1074*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.S1036*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1074					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGAGATGTTGACTGAGAGGC	0.428		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.013537	0	11	138		Valid		
CORO7	79585	broad.mit.edu	37	16	4466517	4466517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:4466517C>T	uc002cwh.3	-	1	123	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CORO7_uc002cwf.2_Missense_Mutation_p.M1I|CORO7_uc002cwg.3_5'Flank|CORO7_uc010uxh.1_Missense_Mutation_p.M1I|CORO7_uc010uxi.1_Missense_Mutation_p.M1I|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	1						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TGAAGCGGTTCATGGCGACGG	0.756		NaN											0	0	0	0.009096	0	4	23				
SMG1	23049	broad.mit.edu	37	16	18859259	18859259	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:18859259G>A	uc002dfm.2	-	37	6083	c.5720C>T	c.(5719-5721)TCT>TTT	p.S1907F	SMG1_uc010bwb.2_Missense_Mutation_p.S1767F|SMG1_uc010bwa.2_Missense_Mutation_p.S638F|SMG1_uc002dfo.3_Missense_Mutation_p.S205F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1907	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GCTATCCTGAGATGCAGGAGG	0.398		NaN											0	0	0	0.016723	0	13	63				
DNAH3	55567	broad.mit.edu	37	16	20997001	20997001	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:20997001C>G	uc010vbe.1	-	48	7063	c.7063G>C	c.(7063-7065)GAT>CAT	p.D2355H	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2355					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATGTTATCATCGACTATCTTT	0.458		NaN											0	0	0	0.010729	0	11	108				
THAP11	57215	broad.mit.edu	37	16	67876802	67876802	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67876802G>A	uc002euo.2	+	1	590	c.345G>A	c.(343-345)CAG>CAA	p.Q115Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	115	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcaacagcagcaacagcagc	0.303		NaN											0	0	0	0.004672	0	3	64				
SLC12A4	6560	broad.mit.edu	37	16	67979985	67979985	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67979985C>G	uc002euz.2	-	20	2749	c.2608G>C	c.(2608-2610)GTC>CTC	p.V870L	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V864L|SLC12A4_uc010vkh.1_Missense_Mutation_p.V839L|SLC12A4_uc010vki.1_Missense_Mutation_p.V870L|SLC12A4_uc010vkj.1_Missense_Mutation_p.V872L|SLC12A4_uc002eva.2_Missense_Mutation_p.V870L|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	870	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCTCCAGACCTGAGGCAAG	0.592		NaN											0	0	0	0.004672	0	3	39				
ZFHX3	463	broad.mit.edu	37	16	72992721	72992721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:72992721C>T	uc002fck.2	-	2	1997	c.1324G>A	c.(1324-1326)GAG>AAG	p.E442K	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	442					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCCTGCTTCTCTCCTTCTGCC	0.463		NaN											0	0	0	0.028581	0	13	111				
FAM57A	79850	broad.mit.edu	37	17	641131	641131	+	Missense_Mutation	SNP	G	G	A	rs143392294	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:641131G>A	uc002frp.2	+	3	293	c.252G>A	c.(250-252)ATG>ATA	p.M84I	FAM57A_uc002frq.2_Missense_Mutation_p.M84I|FAM57A_uc002frr.2_5'UTR	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	84	TLC.|Helical; (Potential).					integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TTCCATACATGATCTATGACT	0.483		NaN											0	0	0	0.020292	0	14	155				
ZZEF1	23140	broad.mit.edu	37	17	4015972	4015972	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:4015972C>G	uc002fxe.2	-	5	1061	c.997G>C	c.(997-999)GAT>CAT	p.D333H	ZZEF1_uc002fxk.1_Missense_Mutation_p.D333H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	333	DOC.						calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATGTGCACATCTCGGACTTCC	0.542		NaN											0	0	0	0.009096	0	4	34				
C17orf81	23587	broad.mit.edu	37	17	7162203	7162203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7162203C>T	uc002gfg.1	+	8	901	c.794C>T	c.(793-795)GCC>GTC	p.A265V	C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.A265V|C17orf81_uc002gfi.1_Missense_Mutation_p.A265V|C17orf81_uc002gfl.1_Intron	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						GAGAGAGAAGCCAGAGATAGC	0.517		NaN											0	0	0	0.008291	0	10	55				
TP53	7157	broad.mit.edu	37	17	7577103	7577103	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7577103C>G	uc002gim.2	-	8	1029	c.835G>C	c.(835-837)GGG>CGG	p.G279R	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G279R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G147R|TP53_uc010cng.1_Missense_Mutation_p.G147R|TP53_uc002gii.1_Missense_Mutation_p.G147R|TP53_uc010cnh.1_Missense_Mutation_p.G279R|TP53_uc010cni.1_Missense_Mutation_p.G279R|TP53_uc002gij.2_Missense_Mutation_p.G279R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	279	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G279E(31)|p.G279R(7)|p.0?(7)|p.R280fs*65(6)|p.G279V(4)|p.G279G(3)|p.G279W(2)|p.?(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.G279fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTCTCTCCCAGGACAGGCA	0.547		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.004672	0	3	30		Valid		
KRBA2	124751	broad.mit.edu	37	17	8273001	8273001	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:8273001T>C	uc002glf.1	-	2	936	c.930A>G	c.(928-930)TTA>TTG	p.L310L	KRBA2_uc002glg.1_Silent_p.L227L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	310	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						TGAAAATATCTAACAAGACAC	0.418		NaN											0	0	0	0.021553	0	6	44				
ATPAF2	91647	broad.mit.edu	37	17	17921970	17921970	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:17921970G>A	uc002gse.1	-	8	916	c.763C>T	c.(763-765)CAT>TAT	p.H255Y	ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	255					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					TCATAGTCATGGGCCCACTCA	0.607		NaN											0	0	0	0.006214	0	7	114				
GIT1	28964	broad.mit.edu	37	17	27909741	27909741	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:27909741C>T	uc002hef.2	-	4	594	c.380G>A	c.(379-381)GGA>GAA	p.G127E	GIT1_uc002heg.2_Missense_Mutation_p.G127E|GIT1_uc010wbg.1_Missense_Mutation_p.G127E|GIT1_uc010csb.1_Missense_Mutation_p.G127E	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	127					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGGTGACTCCATCATCGTC	0.577		NaN											0	0	0	0.004672	0	3	30				
STH	246744	broad.mit.edu	37	17	44076786	44076786	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:44076786C>A	uc002ijy.2	+	1	171	c.141C>A	c.(139-141)ACC>ACA	p.T47T	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	47						cytoplasm|nucleus					0						GAGACAGAACCCTCAGCTTAG	0.413		NaN											1	0	0.000602214	0.014758	0.000630224	5	42				
SP2	6668	broad.mit.edu	37	17	46000404	46000404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:46000404C>T	uc002imk.2	+	4	1273	c.1136C>T	c.(1135-1137)ACC>ATC	p.T379I	SP2_uc002iml.2_Missense_Mutation_p.T372I	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	379					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						GCTGCAGCCACCTCTAACACC	0.587		NaN											0	0	0	0.016723	0	13	69				
DLX3	1747	broad.mit.edu	37	17	48072068	48072068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:48072068G>A	uc002ipy.2	-	1	521	c.295C>T	c.(295-297)CGG>TGG	p.R99W		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCTGCTCCCGATACGCCCCG	0.627		NaN											0	0	0	0.004482	0	8	29				
BRIP1	83990	broad.mit.edu	37	17	59934548	59934548	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:59934548A>T	uc002izk.1	-	4	391	c.250T>A	c.(250-252)TTG>ATG	p.L84M		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	84	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						CAACATGACAATTGTACTTCA	0.343		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.016723	0	13	72				
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61623123C>G	uc002jay.2	+	14	2925	c.2845C>G	c.(2845-2847)CTA>GTA	p.L949V	KCNH6_uc010wpl.1_Missense_Mutation_p.L790V|KCNH6_uc010wpm.1_Missense_Mutation_p.L913V|KCNH6_uc002jaz.1_Missense_Mutation_p.L860V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	949	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGCCTCACCTCTACATCCCCT	0.587		NaN											0	0	0	0.004482	0	9	99				
FTSJ3	117246	broad.mit.edu	37	17	61897650	61897650	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61897650T>C	uc002jbz.2	-	18	2299	c.2221A>G	c.(2221-2223)AAG>GAG	p.K741E	FTSJ3_uc002jca.2_Missense_Mutation_p.K741E	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	741					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCAGCCACCTTCTTGATGGGA	0.562		NaN											0	0	0	0.004482	0	8	105				
ABCA8	10351	broad.mit.edu	37	17	66937049	66937049	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:66937049G>A	uc002jhp.2	-	3	330	c.151C>T	c.(151-153)CAT>TAT	p.H51Y	ABCA8_uc002jhq.2_Missense_Mutation_p.H51Y|ABCA8_uc010wqq.1_Missense_Mutation_p.H51Y|ABCA8_uc010wqr.1_5'UTR|ABCA8_uc002jhr.2_Missense_Mutation_p.H51Y|ABCA8_uc002jhs.2_Missense_Mutation_p.H51Y|ABCA8_uc002jht.2_Missense_Mutation_p.H51Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	51						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTTACTTGATGACTATGAGGA	0.323		NaN											0	0	0	0.004672	0	3	30				
ABCA9	10350	broad.mit.edu	37	17	67045523	67045523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67045523C>T	uc002jhu.2	-	3	348	c.205G>A	c.(205-207)GAT>AAT	p.D69N	ABCA9_uc010dez.2_Missense_Mutation_p.D69N|ABCA9_uc002jhv.2_Missense_Mutation_p.D69N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	69					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTAAAACTATCTACACGTCCC	0.363		NaN											0	0	0	0.020292	0	14	85				
ABCA10	10349	broad.mit.edu	37	17	67189995	67189995	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67189995G>T	uc010dfa.1	-	14	2360	c.1481C>A	c.(1480-1482)GCT>GAT	p.A494D	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.A95D	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	494	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TTTTATTTTAGCAAATACCCT	0.328		NaN											1	0	9.70103e-10	0.008291	1.10054e-09	9	101				
FOXK2	3607	broad.mit.edu	37	17	80529635	80529635	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:80529635G>C	uc002kfn.2	+	4	969	c.798G>C	c.(796-798)CTG>CTC	p.L266L	FOXK2_uc002kfm.1_Silent_p.L266L|FOXK2_uc010diu.2_Silent_p.L266L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	266	Fork-head.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACGCGCAGCTGATAGTTCAGG	0.398		NaN											0	0	0	0.00308	0	7	52				
KIAA1012	22878	broad.mit.edu	37	18	29511315	29511315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:29511315C>T	uc002kxc.3	-	2	693	c.329G>A	c.(328-330)GGA>GAA	p.G110E	KIAA1012_uc002kxb.3_Missense_Mutation_p.G56E|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.G110E	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	110					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GTCATAATCTCCTGCTGTAAT	0.408		NaN											0	0	0	0.010729	0	10	94				
RIT2	6014	broad.mit.edu	37	18	40323522	40323522	+	Missense_Mutation	SNP	C	C	G	rs77976328		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:40323522C>G	uc002lav.2	-	5	763	c.590G>C	c.(589-591)AGA>ACA	p.R197T	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	197					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						GCTGTCTTTTCTCTTCAGTTT	0.413		NaN											0	0	0	0.021523	0	23	152				
TMEM146	257062	broad.mit.edu	37	19	5772930	5772930	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:5772930C>A	uc002mda.2	+	20	1956	c.1895C>A	c.(1894-1896)ACC>AAC	p.T632N		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	632	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGAACTGGACCACCATGATA	0.567		NaN											1	0	0.00024832	0.009096	0.000262927	3	40				
MYO9B	4650	broad.mit.edu	37	19	17263473	17263473	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:17263473C>G	uc010eak.2	+	4	1107	c.955C>G	c.(955-957)CTG>GTG	p.L319V	MYO9B_uc002nfi.2_Missense_Mutation_p.L319V|MYO9B_uc002nfj.1_Missense_Mutation_p.L319V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	319	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CGAGAAATATCTGCTTGAAAA	0.368		NaN											0	0	0	0.021553	0	4	35				
ZNF536	9745	broad.mit.edu	37	19	31039753	31039753	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:31039753C>G	uc002nsu.1	+	4	3365	c.3227C>G	c.(3226-3228)TCT>TGT	p.S1076C	ZNF536_uc010edd.1_Missense_Mutation_p.S1076C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GACTCTGCTTCTGAGAAGATG	0.552		NaN											0	0	0	0.00308	0	8	61				
KIAA0355	9710	broad.mit.edu	37	19	34832940	34832940	+	Missense_Mutation	SNP	C	C	T	rs144261536		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:34832940C>T	uc002nvd.3	+	10	2960	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	701										ovary(1)	1	Esophageal squamous(110;0.162)					CCCTCCACCACGGGCACCCCA	0.612		NaN											0	0	0	0.004482	0	8	94				
CIC	23152	broad.mit.edu	37	19	42793047	42793047	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793047T>C	uc002otf.1	+	7	979	c.939T>C	c.(937-939)TCT>TCC	p.S313S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CAGTGTCCTCTGAGCTCCTGT	0.562		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.028581	0	5	42				
CIC	23152	broad.mit.edu	37	19	42793049	42793049	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793049A>T	uc002otf.1	+	7	981	c.941A>T	c.(940-942)GAG>GTG	p.E314V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTGTCCTCTGAGCTCCTGTCC	0.557		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.024245	0	4	44				
XRCC1	7515	broad.mit.edu	37	19	44079154	44079154	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44079154T>C	uc002owt.2	-	2	172	c.52A>G	c.(52-54)ACT>GCT	p.T18A	XRCC1_uc010xwp.1_Intron|uc010xwq.1_5'Flank	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	18					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				GCACAGTGAGTCTGGAAACAA	0.527		NaN						Other_BER_factors					0	0	0	0.021553	0	6	26				
ZNF283	284349	broad.mit.edu	37	19	44352248	44352249	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44352248_44352249GG>TC	uc002oxr.3	+	7	1763_1764	c.1495_1496GG>TC	c.(1495-1497)GGG>TCG	p.G499S	ZNF283_uc002oxp.3_Missense_Mutation_p.G360S	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	499	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				CTTTTGTAGTGGGTATCAACTT	0.411		NaN											0	0	0	0.004672	0	21	101				
ERCC2	2068	broad.mit.edu	37	19	45855835	45855835	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:45855835G>A	uc002pbj.2	-	21	2022	c.1975C>T	c.(1975-1977)CAC>TAC	p.H659Y	ERCC2_uc002pbh.2_Missense_Mutation_p.H222Y|ERCC2_uc002pbi.2_Missense_Mutation_p.H352Y|ERCC2_uc010ejz.2_Missense_Mutation_p.H581Y|ERCC2_uc002pbk.2_Missense_Mutation_p.H635Y	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	659					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGGCCGCGTGGCGCATGGCA	0.612		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.006122	0	19	57		Valid		
PTGIR	5739	broad.mit.edu	37	19	47124901	47124901	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:47124901G>C	uc002pex.2	-	3	910	c.797C>G	c.(796-798)CCT>CGT	p.P266R		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	266	Extracellular (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCTGCTGTCAGGGGCGACAGC	0.642		NaN											0	0	0	0.008291	0	10	32				
ALDH16A1	126133	broad.mit.edu	37	19	49967904	49967904	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:49967904C>T	uc002pnt.2	+	12	1569	c.1453C>T	c.(1453-1455)CTG>TTG	p.L485L	ALDH16A1_uc010yar.1_Silent_p.L434L|ALDH16A1_uc010yas.1_Silent_p.L320L|ALDH16A1_uc010yat.1_Silent_p.L322L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	485							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTATGAGTATCTGCGGCCCTC	0.662		NaN											0	0	0	0.004482	0	9	137				
ZNF468	90333	broad.mit.edu	37	19	53352431	53352431	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53352431G>A	uc002qaf.2	-	3	202	c.51C>T	c.(49-51)TTC>TTT	p.F17F	ZNF468_uc002qae.2_5'UTR	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		CCTCCTGAGAGAATTCTATGG	0.443		NaN											0	0	0	0.00308	0	7	158				
ZNF160	90338	broad.mit.edu	37	19	53573254	53573254	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53573254T>C	uc010eqk.2	-	7	949	c.533A>G	c.(532-534)AAC>AGC	p.N178S	ZNF160_uc002qaq.3_Missense_Mutation_p.N178S|ZNF160_uc002qar.3_Missense_Mutation_p.N178S	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	178					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		AAGCTGATTGTTCATAAGCTT	0.413		NaN											0	0	0	0.021553	0	5	146				
CACNG6	59285	broad.mit.edu	37	19	54502980	54502980	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54502980G>A	uc002qct.2	+	3	1089	c.499G>A	c.(499-501)GCA>ACA	p.A167T	CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	167						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGTAAAGGTGCAGAGTTCCT	0.592		NaN											0	0	0	0.021553	0	6	178				
PRPF31	26121	broad.mit.edu	37	19	54632680	54632681	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54632680_54632681GG>CC	uc002qdh.2	+	13	1705_1706	c.1309_1310GG>CC	c.(1309-1311)GGG>CCG	p.G437P	PRPF31_uc010yek.1_Missense_Mutation_p.R414P	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	437					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTATATGGCGGGAAGTCCACC	0.619		NaN									OREG0003636	type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	3	11				
PTPRH	5794	broad.mit.edu	37	19	55696892	55696892	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55696892C>T	uc002qjq.2	-	18	3113	c.3040G>A	c.(3040-3042)GGC>AGC	p.G1014S	PTPRH_uc010esv.2_Missense_Mutation_p.G836S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1014	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGGGTGGGCCTCCCTCCATG	0.632		NaN											0	0	0	0.004672	0	3	18				
HSPBP1	23640	broad.mit.edu	37	19	55776711	55776711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55776711C>A	uc002qjx.2	-	6	1188	c.1078G>T	c.(1078-1080)GAA>TAA	p.E360*	HSPBP1_uc002qjy.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkb.2_Missense_Mutation_p.G310V|HSPBP1_uc002qka.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkd.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkc.2_Nonsense_Mutation_p.E314*|uc002qke.2_5'Flank	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	317					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGCCCAGTTCCGGCTCCCGA	0.647		NaN											1	0	0.000157383	0.00308	0.000167958	7	93				
APOB	338	broad.mit.edu	37	2	21228278	21228278	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21228278G>C	uc002red.2	-	26	11590	c.11462C>G	c.(11461-11463)ACT>AGT	p.T3821S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3821					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGGACACAGTTAACTGAGA	0.423		NaN											0	0	0	0.014758	0	4	167				
APOB	338	broad.mit.edu	37	2	21249677	21249677	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21249677C>T	uc002red.2	-	15	2355	c.2227G>A	c.(2227-2229)GAT>AAT	p.D743N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	743					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTTATCATCTTTGGTATAG	0.393		NaN											0	0	0	0.02938	0	7	93				
SMYD1	150572	broad.mit.edu	37	2	88387407	88387407	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:88387407T>G	uc002ssr.2	+	3	343	c.341T>G	c.(340-342)GTG>GGG	p.V114G	SMYD1_uc002ssq.1_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ATGTGGCGGGTGGAGAGAGAA	0.542		NaN											0	0	0	0.021553	0	3	3				
DARS	1615	broad.mit.edu	37	2	136673932	136673932	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:136673932C>T	uc002tux.1	-	11	1154	c.970G>A	c.(970-972)GAA>AAA	p.E324K	DARS_uc010fnj.1_Missense_Mutation_p.E224K	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	324					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTTTGAATTTCAGTCTGAAAC	0.348		NaN											0	0	0	0.00308	0	7	87				
THSD7B	80731	broad.mit.edu	37	2	138320875	138320875	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:138320875G>C	uc002tva.1	+	15	3136	c.3136G>C	c.(3136-3138)GAG>CAG	p.E1046Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATCAACAATGAGCTGAGGTC	0.453		NaN											0	0	0	0.009096	0	4	24				
ZEB2	9839	broad.mit.edu	37	2	145147516	145147516	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:145147516G>A	uc002tvu.2	-	10	3627	c.3147C>T	c.(3145-3147)CAC>CAT	p.H1049H	ZEB2_uc002tvv.2_Silent_p.H1043H|ZEB2_uc010zbm.1_Silent_p.H1020H|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1049	C2H2-type 6.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGCCCGAGTGAAGCCTTG	0.478		NaN											0	0	0	0.00308	0	8	49				
KCNH7	90134	broad.mit.edu	37	2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:163236421C>G	uc002uch.1	-	14	3285	c.3073G>C	c.(3073-3075)GAC>CAC	p.D1025H		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1025	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TAGGTGAGGTCGCTTTCGGTT	0.517		NaN											0	0	0	0.013537	0	12	154				
LRP2	4036	broad.mit.edu	37	2	170009322	170009322	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:170009322C>A	uc002ues.2	-	67	12661	c.12448G>T	c.(12448-12450)GAC>TAC	p.D4150Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4150	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAACCCAGTCCACTGCTATT	0.478		NaN											1	0	0.00010058	0.013537	0.000108194	13	137				
HNRNPA3	220988	broad.mit.edu	37	2	178082493	178082493	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:178082493C>T	uc002ulb.1	+	8	987	c.881C>T	c.(880-882)CCA>CTA	p.P294L	HNRNPA3_uc002ulc.1_Missense_Mutation_p.P294L|HNRNPA3_uc002uld.2_Missense_Mutation_p.P272L|HNRNPA3_uc002ule.2_Missense_Mutation_p.P71L	NM_194247	NP_919223	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	294	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GGTGGTGGACCAGGATATGGA	0.438		NaN											0	0	0	0.006214	0	10	120				
CASP8	841	broad.mit.edu	37	2	202131238	202131238	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:202131238T>C	uc002uxr.1	+	3	238	c.29T>C	c.(28-30)ATT>ACT	p.I10T	CASP8_uc010ftc.1_Missense_Mutation_p.I10T|CASP8_uc002uxo.1_Missense_Mutation_p.I10T|CASP8_uc002uxp.1_Missense_Mutation_p.I10T|CASP8_uc002uxq.1_Missense_Mutation_p.I10T|CASP8_uc002uxs.1_Missense_Mutation_p.I10T|CASP8_uc002uxt.1_Missense_Mutation_p.I69T|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.I10T|CASP8_uc002uxw.1_Missense_Mutation_p.I10T|CASP8_uc002uxy.1_Missense_Mutation_p.I10T|CASP8_uc002uxx.1_Missense_Mutation_p.I10T|CASP8_uc010ftf.2_Missense_Mutation_p.I10T	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	10	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CTTTATGATATTGGGGAACAA	0.408		NaN								HNSCC(4;0.00038)			0	0	0	0.02938	0	6	60				
SCLY	51540	broad.mit.edu	37	2	238999877	238999877	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:238999877G>A	uc010fyv.2	+	8	967	c.903G>A	c.(901-903)ATG>ATA	p.M301I	SCLY_uc002vxm.3_Missense_Mutation_p.M268I|SCLY_uc002vxn.2_Missense_Mutation_p.M301I|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.M207I	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	301					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACACCCCAATGATTGCTGGCC	0.463		NaN											0	0	0	0.024245	0	10	111				
PDYN	5173	broad.mit.edu	37	20	1961214	1961214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:1961214G>A	uc010gaj.2	-	3	762	c.520C>T	c.(520-522)CGC>TGC	p.R174C	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R174C|PDYN_uc010zpt.1_Missense_Mutation_p.R19C	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	174					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCCATAGCGTTTGACCTGC	0.582		NaN											0	0	0	0.021553	0	6	81				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:33345744C>T	uc002xav.2	-	8	3378	c.807G>A	c.(805-807)CAG>CAA	p.Q269Q	NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						gctgctgctgctgttgttgtt	0.313		NaN											0	0	0	0.004672	0	3	18				
ZHX3	23051	broad.mit.edu	37	20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587		NaN											1	0	0.00116845	0.021553	0.00121807	6	68				
TSHZ2	128553	broad.mit.edu	37	20	51870547	51870547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:51870547C>T	uc002xwo.2	+	2	1506	c.550C>T	c.(550-552)CGG>TGG	p.R184W		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	184					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTTGCCTTCTCGGTCCGTCTC	0.552		NaN											0	0	0	0.009096	0	4	41				
IL10RB	3588	broad.mit.edu	37	21	34648997	34648997	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:34648997G>A	uc002yrk.1	+	3	369	c.270G>A	c.(268-270)AGG>AGA	p.R90R	IL10RB_uc002yrh.1_Silent_p.R160R|IL10RB_uc002yri.1_Silent_p.R43R|IL10RB_uc002yrl.1_Silent_p.R92R	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	90	Extracellular (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						TGAGAGTCAGGGCTGAATTTG	0.398		NaN											0	0	0	0.010729	0	11	148				
KCNJ15	3772	broad.mit.edu	37	21	39671406	39671406	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39671406G>A	uc002ywv.2	+	4	525	c.223G>A	c.(223-225)GTG>ATG	p.V75M	KCNJ15_uc002yww.2_Missense_Mutation_p.V75M|KCNJ15_uc002ywx.2_Missense_Mutation_p.V75M	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	75	Helical; Name=M1; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						TGCCACTTTTGTGATGACCTG	0.473		NaN											0	0	0	0.00308	0	7	88				
ERG	2078	broad.mit.edu	37	21	39755633	39755633	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39755633T>C	uc010gnw.2	-	12	1448	c.1153A>G	c.(1153-1155)ATG>GTG	p.M385V	ERG_uc002yxa.2_Missense_Mutation_p.M378V|ERG_uc011aek.1_Missense_Mutation_p.M286V|ERG_uc010gnv.2_Missense_Mutation_p.M262V|ERG_uc010gnx.2_Missense_Mutation_p.M361V|ERG_uc011ael.1_Missense_Mutation_p.M385V|ERG_uc002yxb.2_Missense_Mutation_p.M361V	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	385	ETS.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				ACCTTGGTCATGATGTTCTTG	0.592		NaN											0	0	0	0.008291	0	10	85				
GAB4	128954	broad.mit.edu	37	22	17447085	17447085	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:17447085G>C	uc002zlw.2	-	6	1301	c.1193C>G	c.(1192-1194)TCC>TGC	p.S398C	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	398										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTGAGTGGGGAGCCAAGCAG	0.592		NaN											0	0	0	0.00308	0	8	57				
ZNF74	7625	broad.mit.edu	37	22	20749694	20749694	+	Missense_Mutation	SNP	G	G	A	rs139227842	by1000genomes	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:20749694G>A	uc010gsm.2	+	3	318	c.106G>A	c.(106-108)GAA>AAA	p.E36K	ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.E36K|ZNF74_uc002zsi.2_Intron|ZNF74_uc010gsn.2_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	36					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGTCTTCCCGAAGCCAGGTC	0.532		NaN											0	0	0	0.009096	0	4	57				
EWSR1	2130	broad.mit.edu	37	22	29695597	29695597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:29695597C>T	uc003aet.2	+	16	2015	c.1687C>T	c.(1687-1689)CGT>TGT	p.R563C	EWSR1_uc003aev.2_Missense_Mutation_p.R568C|EWSR1_uc003aew.2_Missense_Mutation_p.R507C|EWSR1_uc003aex.2_Missense_Mutation_p.R562C|EWSR1_uc003aey.2_Missense_Mutation_p.R358C|EWSR1_uc003aez.2_Missense_Mutation_p.R224C	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	563	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						AGGTGGTGATCGTGGCAGAGG	0.607		NaN	T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma								0	0	0	0.014758	0	3	33				
NF2	4771	broad.mit.edu	37	22	30057255	30057255	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:30057255C>T	uc003age.3	+	8	1180	c.737C>T	c.(736-738)CCT>CTT	p.P246L	NF2_uc003afy.3_Missense_Mutation_p.P246L|NF2_uc003afz.3_Missense_Mutation_p.P163L|NF2_uc003agf.3_Missense_Mutation_p.P246L|NF2_uc003agb.3_Missense_Mutation_p.P169L|NF2_uc003agc.3_Missense_Mutation_p.P208L|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.P246L|NF2_uc003aga.3_Missense_Mutation_p.P204L|NF2_uc003agh.3_Missense_Mutation_p.P205L|NF2_uc003agi.3_Missense_Mutation_p.P163L|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.P208L	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	246	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.P246fs*5(2)|p.?(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.L127_D382del(1)|p.L140_P252del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						ATTTATGACCCTGAGAACAGA	0.502		NaN	D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				0	0	0	0.010729	0	11	114				
APOL1	8542	broad.mit.edu	37	22	36661781	36661781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:36661781C>T	uc003apf.2	+	6	1067	c.899C>T	c.(898-900)TCA>TTA	p.S300L	APOL1_uc011amn.1_Missense_Mutation_p.S177L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.S316L|APOL1_uc011amo.1_Missense_Mutation_p.S177L|APOL1_uc011amp.1_Missense_Mutation_p.S300L|APOL1_uc011amq.1_Missense_Mutation_p.S282L|APOL1_uc010gwx.2_Missense_Mutation_p.S177L	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	300					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						CCGCATGCCTCAGCCTCACGC	0.557		NaN											0	0	0	0.00308	0	7	60				
FAM83F	113828	broad.mit.edu	37	22	40415261	40415261	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:40415261C>T	uc003ayk.1	+	2	673	c.579C>T	c.(577-579)TAC>TAT	p.Y193Y		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	193										breast(1)	1						TCCCAGTGTACATCATCCTGG	0.542		NaN											0	0	0	0.024245	0	12	50				
TCF20	6942	broad.mit.edu	37	22	42609633	42609633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42609633G>A	uc003bcj.1	-	1	1813	c.1679C>T	c.(1678-1680)CCG>CTG	p.P560L	TCF20_uc003bck.1_Missense_Mutation_p.P560L|TCF20_uc003bnt.2_Missense_Mutation_p.P560L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						ACCTTGTGCCGGTGAGGAGCC	0.577		NaN											0	0	0	0.0333	0	18	82				
CELSR1	9620	broad.mit.edu	37	22	46759909	46759909	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:46759909C>T	uc003bhw.1	-	34	9019	c.9019G>A	c.(9019-9021)GAT>AAT	p.D3007N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	3007	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGAGCCATCGGCCTGGGCG	0.672		NaN											0	0	0	0.004482	0	7	14				
PLXNB2	23654	broad.mit.edu	37	22	50718479	50718479	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:50718479C>A	uc003bkv.3	-	26	4303	c.4197G>T	c.(4195-4197)AGG>AGT	p.R1399S	PLXNB2_uc003bkt.1_Missense_Mutation_p.R191S|PLXNB2_uc003bku.1_Missense_Mutation_p.R384S	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1399	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACAGCATCCTCTCCACCA	0.612		NaN											1	0	1.23904e-05	0.014758	1.35442e-05	5	38				
ATP2B2	491	broad.mit.edu	37	3	10370803	10370803	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:10370803C>T	uc003bvt.2	-	23	3866	c.3427G>A	c.(3427-3429)GTC>ATC	p.V1143I	ATP2B2_uc003bvv.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.V848I|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1143	Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCCTTCACGACGCGGATCTGC	0.582		NaN											0	0	0	0.009096	0	4	57				
TRIM71	131405	broad.mit.edu	37	3	32927521	32927521	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:32927521G>A	uc003cff.2	+	3	1179	c.1116G>A	c.(1114-1116)AAG>AAA	p.K372K		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	372					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CGAGGCATAAGAAAGCCCTGG	0.617		NaN											0	0	0	0.014758	0	5	39				
SLC22A13	9390	broad.mit.edu	37	3	38318947	38318947	+	Silent	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:38318947A>G	uc003chz.3	+	10	1701	c.1647A>G	c.(1645-1647)ACA>ACG	p.T549T		NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	549	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGAGCAGCACATACTTCTGAT	0.562		NaN											0	0	0	0.021553	0	6	67				
CCDC36	339834	broad.mit.edu	37	3	49294677	49294677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:49294677G>A	uc003cwk.2	+	10	2134	c.1747G>A	c.(1747-1749)GAC>AAC	p.D583N	CCDC36_uc011bck.1_Missense_Mutation_p.D583N	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	583										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTGCTCTATGACCTGGGTTT	0.488		NaN											0	0	0	0.013537	0	13	118				
HSPBAP1	79663	broad.mit.edu	37	3	122459659	122459659	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:122459659C>T	uc003efu.1	-	8	1123	c.1000G>A	c.(1000-1002)GAT>AAT	p.D334N	HSPBAP1_uc003eft.1_Missense_Mutation_p.D45N	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	334						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTGCAGCGATCAAAAAATGCA	0.403		NaN											0	0	0	0.013537	0	11	131				
KCNAB1	7881	broad.mit.edu	37	3	156234066	156234066	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:156234066C>T	uc003far.2	+	11	937	c.873C>T	c.(871-873)GGC>GGT	p.G291G	KCNAB1_uc011bon.1_Silent_p.G262G|KCNAB1_uc003fas.2_Silent_p.G280G|KCNAB1_uc003fat.2_Silent_p.G273G|KCNAB1_uc010hvt.1_Silent_p.G244G|KCNAB1_uc011boo.1_Silent_p.G167G	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	291						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAGGTGTTGGCGCAATGACAT	0.453		NaN											0	0	0	0.014758	0	5	45				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.00308	0	6	38		Valid		
NOP14	8602	broad.mit.edu	37	4	2950082	2950082	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:2950082C>G	uc003ggj.1	-	9	1408	c.1336G>C	c.(1336-1338)GAG>CAG	p.E446Q	C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E192Q|NOP14_uc003ggk.3_Missense_Mutation_p.E446Q|NOP14_uc003ggl.2_Missense_Mutation_p.E446Q	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	446					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						AAAAGCTGCTCTTCCATCGAT	0.413		NaN											0	0	0	0.006214	0	10	88				
UGDH	7358	broad.mit.edu	37	4	39523129	39523129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:39523129A>G	uc003guk.1	-	2	320	c.4T>C	c.(4-6)TTT>CTT	p.F2L	UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.F2L	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	2					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	TTAATTTCAAACATGATTGTA	0.333		NaN											0	0	0	0.004672	0	3	58				
SLC30A9	10463	broad.mit.edu	37	4	42069148	42069148	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:42069148T>C	uc003gwl.2	+	14	1337	c.1191T>C	c.(1189-1191)GAT>GAC	p.D397D	SLC30A9_uc011byx.1_Silent_p.D157D	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	397	Helical; (Potential).				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						TATTGGAGGATACTGCTGCAG	0.353		NaN											0	0	0	0.021553	0	5	110				
UGT2B10	7365	broad.mit.edu	37	4	69692212	69692212	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:69692212C>T	uc003hee.2	+	4	1109	c.1084C>T	c.(1084-1086)CTA>TTA	p.L362L	UGT2B10_uc011cam.1_Silent_p.L278L	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	362					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GAATGACCTTCTAGGTAACAC	0.378		NaN											0	0	0	0.021553	0	5	63				
HSD17B13	345275	broad.mit.edu	37	4	88239530	88239530	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:88239530T>C	uc003hqo.2	-	2	332	c.269A>G	c.(268-270)TAT>TGT	p.Y90C	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	90						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTACCACATACGCATGCGC	0.458		NaN											0	0	0	0.021553	0	6	62				
C4orf21	55345	broad.mit.edu	37	4	113468478	113468478	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:113468478C>G	uc003iau.2	-	24	5772	c.5561G>C	c.(5560-5562)GGA>GCA	p.G1854A	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.G312A	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	676						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGTTCCAATCCATTTTCATG	0.373		NaN											0	0	0	0.004672	0	3	31				
SH3D19	152503	broad.mit.edu	37	4	152065152	152065152	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:152065152C>G	uc010ipl.1	-	13	2452	c.1362G>C	c.(1360-1362)GAG>GAC	p.E454D	SH3D19_uc003imb.2_Missense_Mutation_p.E209D|SH3D19_uc003imc.2_Missense_Mutation_p.E395D|SH3D19_uc003ime.2_Missense_Mutation_p.E431D|SH3D19_uc010ipm.2_Missense_Mutation_p.E431D	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	454	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTTTTGGCACTCCAAGTAAT	0.398		NaN											0	0	0	0.009096	0	4	55				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:153247366C>G	uc003ims.2	-	10	1585	c.1436G>C	c.(1435-1437)CGA>CCA	p.R479P	FBXW7_uc011cii.1_Missense_Mutation_p.R479P|FBXW7_uc003imt.2_Missense_Mutation_p.R479P|FBXW7_uc011cih.1_Missense_Mutation_p.R303P|FBXW7_uc003imq.2_Missense_Mutation_p.R399P|FBXW7_uc003imr.2_Missense_Mutation_p.R361P	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.014758	0	5	59		Valid		
GUCY1B3	2983	broad.mit.edu	37	4	156715077	156715077	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:156715077G>C	uc003ipc.2	+	6	732	c.565G>C	c.(565-567)GAG>CAG	p.E189Q	GUCY1B3_uc011cio.1_Missense_Mutation_p.E211Q|GUCY1B3_uc011cip.1_Missense_Mutation_p.E169Q|GUCY1B3_uc003ipd.2_Missense_Mutation_p.E117Q|GUCY1B3_uc010iqf.2_Missense_Mutation_p.E189Q|GUCY1B3_uc010iqg.2_Missense_Mutation_p.E117Q|GUCY1B3_uc011ciq.1_Missense_Mutation_p.E117Q	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	189					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTCAAAAGAAGAGGATTTTTA	0.333		NaN											0	0	0	0.014758	0	5	53				
FAT1	2195	broad.mit.edu	37	4	187541654	187541654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:187541654G>T	uc003izf.2	-	10	6274	c.6086C>A	c.(6085-6087)TCA>TAA	p.S2029*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2029	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAGAACTCCTGAAGTGCGGCT	0.463		NaN								HNSCC(5;0.00058)			1	0	9.57634e-11	0.01892	1.0956e-10	23	219				
ADAMTS12	81792	broad.mit.edu	37	5	33624410	33624410	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:33624410C>T	uc003jia.1	-	14	2232	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	690	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CACACCGCAGCGATCCTCGGT	0.502		NaN								HNSCC(64;0.19)			0	0	0	0.014758	0	5	49				
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:78610358T>G	uc003kfx.3	+	9	2863	c.2343T>G	c.(2341-2343)CCT>CCG	p.P781P	JMY_uc003kfw.1_Silent_p.P427P	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	781	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.403		NaN											0	0	0	0.00308	0	6	103				
RASGRF2	5924	broad.mit.edu	37	5	80390805	80390805	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:80390805C>A	uc003kha.1	+	12	1749	c.1749C>A	c.(1747-1749)ATC>ATA	p.I583I	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	583	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGAGTGACATCAGTCAGGTAA	0.393		NaN											1	0	2.0095e-06	0.02938	2.22362e-06	6	37				
TRIM36	55521	broad.mit.edu	37	5	114499268	114499268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:114499268C>T	uc003kqs.2	-	2	754	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	TRIM36_uc011cwc.1_Missense_Mutation_p.R70Q|TRIM36_uc003kqt.2_Intron	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	82	RING-type; degenerate.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAGCCGAAGTCGAGGACTGCT	0.448		NaN											0	0	0	0.014758	0	5	63				
SLC12A2	6558	broad.mit.edu	37	5	127484463	127484463	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:127484463C>T	uc003kus.2	+	12	2063	c.1899C>T	c.(1897-1899)AAC>AAT	p.N633N	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.N633N	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	633	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTAAGGACAACATCTACCCAG	0.328		NaN											0	0	0	0.006214	0	10	112				
KDM3B	51780	broad.mit.edu	37	5	137756428	137756428	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:137756428A>G	uc003lcy.1	+	15	3949	c.3749A>G	c.(3748-3750)GAG>GGG	p.E1250G	KDM3B_uc010jew.1_Missense_Mutation_p.E906G|KDM3B_uc011cys.1_Missense_Mutation_p.E282G	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CTCAATAAAGAGTCTCATTCA	0.483		NaN											0	0	0	0.010729	0	10	66				
PCDHB2	56133	broad.mit.edu	37	5	140475832	140475832	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:140475832C>G	uc003lil.2	+	1	1596	c.1458C>G	c.(1456-1458)GCC>GCG	p.A486A	PCDHB2_uc003lim.1_Silent_p.A147A	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	486	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.662		NaN											0	0	0	0.013537	0	6	111				
C5orf58	133874	broad.mit.edu	37	5	169661182	169661182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:169661182G>A	uc010jjn.2	+	2	126	c.43G>A	c.(43-45)GAG>AAG	p.E15K	C5orf58_uc003mal.2_RNA	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN	hypothetical protein LOC133874	15											0						GGAAAAGGTAGAGGCAAGGAT	0.393		NaN											0	0	0	0.004672	0	3	28				
ZNF346	23567	broad.mit.edu	37	5	176468221	176468221	+	Silent	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:176468221A>T	uc003mfi.2	+	2	313	c.270A>T	c.(268-270)GCA>GCT	p.A90A	ZNF346_uc011dfr.1_Silent_p.A90A|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Silent_p.A115A|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	90	Matrin-type 1.					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGCTGGCACATTACCAGG	0.458		NaN											0	0	0	0.010729	0	12	110				
HIVEP1	3096	broad.mit.edu	37	6	12125108	12125108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:12125108C>T	uc003nac.2	+	4	5259	c.5080C>T	c.(5080-5082)CAG>TAG	p.Q1694*	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1694					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAAGGTCATCAGAATGCTTT	0.393		NaN											0	0	0	0.028581	0	16	93				
GPLD1	2822	broad.mit.edu	37	6	24472819	24472819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:24472819G>A	uc003ned.1	-	7	647	c.536C>T	c.(535-537)GCA>GTA	p.A179V	GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.A179V	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	179						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CCAGCGTCGTGCAAGGTAATT	0.338		NaN											0	0	0	0.013537	0	9	78				
GRM4	2914	broad.mit.edu	37	6	34003916	34003916	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:34003916G>C	uc003oir.3	-	8	2141	c.1971C>G	c.(1969-1971)ATC>ATG	p.I657M	GRM4_uc011dsn.1_Missense_Mutation_p.I610M|GRM4_uc010jvh.2_Missense_Mutation_p.I657M|GRM4_uc010jvi.2_Missense_Mutation_p.I349M|GRM4_uc003oio.2_Missense_Mutation_p.I349M|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.I517M|GRM4_uc003oiq.2_Missense_Mutation_p.I524M|GRM4_uc011dsm.1_Missense_Mutation_p.I488M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	657	Helical; Name=3; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GTCCCAGGAAGATTCGGCGCA	0.602		NaN											0	0	0	0.014758	0	5	43				
TEAD3	7005	broad.mit.edu	37	6	35454253	35454253	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:35454253C>G	uc003oku.3	-	2	423	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	TEAD3_uc010jvx.2_Silent_p.T45T	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	63	TEA.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATCTTGCCCTCGTCTGACAGG	0.697		NaN											0	0	0	0.014758	0	5	40				
BRPF3	27154	broad.mit.edu	37	6	36168658	36168658	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:36168658C>T	uc003olv.3	+	2	783	c.559C>T	c.(559-561)CTG>TTG	p.L187L	BRPF3_uc010jwb.2_Silent_p.L187L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.L187L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	187					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CTTTGAGCTGCTGGTAGACCG	0.527		NaN											0	0	0	0.014758	0	4	55				
PRPH2	5961	broad.mit.edu	37	6	42672298	42672298	+	Silent	SNP	G	G	A	rs61755799		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:42672298G>A	uc003osk.2	-	2	919	c.633C>T	c.(631-633)TTC>TTT	p.F211F		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	211	Lumenal (Potential).		F -> L (in RP7).		cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCAGCTGAAAGGGACGC	0.562		NaN											0	0	0	0.014758	0	5	51				
GPR116	221395	broad.mit.edu	37	6	46849233	46849233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:46849233G>A	uc003oyo.3	-	8	1062	c.773C>T	c.(772-774)ACC>ATC	p.T258I	GPR116_uc003oyp.3_Missense_Mutation_p.T258I|GPR116_uc003oyq.3_Missense_Mutation_p.T258I|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Missense_Mutation_p.T258I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	258	SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CATTTTGTAGGTCTGATTGAG	0.368		NaN											0	0	0	0.014758	0	5	66				
DST	667	broad.mit.edu	37	6	56401661	56401661	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:56401661C>T	uc003pdf.2	-	56	10357	c.10329G>A	c.(10327-10329)CAG>CAA	p.Q3443Q	DST_uc003pcz.3_Silent_p.Q3265Q|DST_uc011dxj.1_Silent_p.Q3294Q|DST_uc011dxk.1_Silent_p.Q3305Q|DST_uc003pcy.3_Silent_p.Q2939Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5351	Spectrin 7.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGCAGCACTCTGAATAAGGC	0.433		NaN											0	0	0	0.014758	0	5	62				
AKD1	221264	broad.mit.edu	37	6	109996891	109996891	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:109996891C>T	uc003ptn.2	-	2	135	c.58G>A	c.(58-60)GAA>AAA	p.E20K	AKD1_uc003ptr.3_Missense_Mutation_p.E20K|AKD1_uc003pts.1_RNA	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	20					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						CTTTCAGTTTCATCTTCATCA	0.289		NaN											0	0	0	0.009096	0	4	27				
TSPYL1	7259	broad.mit.edu	37	6	116600201	116600201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:116600201G>C	uc003pwp.3	-	1	1080	c.793C>G	c.(793-795)CTG>GTG	p.L265V	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	265					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCCGCTCCAGGTAGTGTCGA	0.562		NaN											0	0	0	0.00308	0	8	84				
MAP3K5	4217	broad.mit.edu	37	6	136904781	136904781	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:136904781G>A	uc003qhc.2	-	24	3684	c.3323C>T	c.(3322-3324)ACC>ATC	p.T1108I	MAP3K5_uc011edj.1_Missense_Mutation_p.T355I|MAP3K5_uc011edk.1_Missense_Mutation_p.T954I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1108					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGACAGTGTGGTGGCTATGAT	0.463		NaN											0	0	0	0.00308	0	8	67				
GET4	51608	broad.mit.edu	37	7	926266	926266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:926266G>A	uc003sjl.1	+	3	387	c.295G>A	c.(295-297)GAG>AAG	p.E99K	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	99					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						GGCGGAAGTGGAGGTGGCTGA	0.597		NaN											0	0	0	0.028581	0	15	67				
INTS1	26173	broad.mit.edu	37	7	1513805	1513805	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:1513805A>G	uc003skn.2	-	41	5929	c.5828T>C	c.(5827-5829)CTG>CCG	p.L1943P	INTS1_uc003skm.1_Missense_Mutation_p.L80P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1943					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGCACACACCAGCAGCAGGCG	0.706		NaN									OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	13				
CHN2	1124	broad.mit.edu	37	7	29539546	29539546	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:29539546T>C	uc003szz.2	+	9	1240	c.803T>C	c.(802-804)CTC>CCC	p.L268P	CHN2_uc011jzs.1_Missense_Mutation_p.L343P|CHN2_uc010kva.2_Missense_Mutation_p.L38P|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.L233P|CHN2_uc011jzt.1_Missense_Mutation_p.L281P|CHN2_uc010kvd.2_Missense_Mutation_p.L124P|CHN2_uc011jzu.1_Missense_Mutation_p.L253P|CHN2_uc010kvg.2_Missense_Mutation_p.L132P|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.L132P|CHN2_uc010kve.2_Missense_Mutation_p.L132P|CHN2_uc003taa.2_Missense_Mutation_p.L132P|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.L87P|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.L87P|CHN2_uc011jzv.1_Missense_Mutation_p.L61P	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						CAACCTGATCTCAAGAGGATC	0.468		NaN											0	0	0	0.010729	0	12	46				
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:36571798G>A	uc003tfh.3	-	18	1781	c.1380C>T	c.(1378-1380)CAC>CAT	p.H460H	AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						ACATCCAGCCGTGGCAGGGGC	0.512		NaN											0	0	0	0.00308	0	7	61				
CUX1	1523	broad.mit.edu	37	7	101845239	101845239	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:101845239C>G	uc003uyx.3	+	18	2700	c.2662C>G	c.(2662-2664)CCA>GCA	p.P888A	CUX1_uc003uys.3_Missense_Mutation_p.P899A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	888					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CGCTGAGTCCCCATACTCCCA	0.672		NaN											0	0	0	0.016723	0	12	61				
CAV1	857	broad.mit.edu	37	7	116166725	116166725	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:116166725C>G	uc003vif.1	+	2	455	c.177C>G	c.(175-177)CTC>CTG	p.L59L	CAV1_uc010lkd.1_Silent_p.L28L|CAV1_uc010lke.1_Silent_p.L28L|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Silent_p.L28L|CAV1_uc010lkf.1_Silent_p.L28L	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	59	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTAAACACCTCAACGATGACG	0.577		NaN									OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	45				
FNTA	2339	broad.mit.edu	37	8	42939973	42939973	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:42939973G>A	uc003xps.2	+	8	1014	c.966G>A	c.(964-966)ATG>ATA	p.M322I	FNTA_uc003xpt.2_Missense_Mutation_p.M231I|FNTA_uc003xpu.2_Missense_Mutation_p.M255I|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	322					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGAAGACATGCTAGAAAATC	0.358		NaN											0	0	0	0.021553	0	4	71				
MMP16	4325	broad.mit.edu	37	8	89198769	89198769	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:89198769G>A	uc003yeb.3	-	3	622	c.340C>T	c.(340-342)CAT>TAT	p.H114Y	MMP16_uc003yec.2_Missense_Mutation_p.H114Y	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	114					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CGACGAATATGAAATTTGGAG	0.413		NaN											0	0	0	0.006214	0	9	154				
PKHD1L1	93035	broad.mit.edu	37	8	110457514	110457514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:110457514C>T	uc003yne.2	+	38	5520	c.5416C>T	c.(5416-5418)CCA>TCA	p.P1806S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1806	Extracellular (Potential).|IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACTCCTCTCCCAGTTGGACA	0.468		NaN								HNSCC(38;0.096)			0	0	0	0.02938	0	7	67				
DOCK8	81704	broad.mit.edu	37	9	434792	434792	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:434792G>A	uc003zgf.2	+	39	5008	c.4896G>A	c.(4894-4896)AAG>AAA	p.K1632K	DOCK8_uc010mgu.2_Silent_p.K934K|DOCK8_uc010mgv.2_Silent_p.K1532K|DOCK8_uc003zgk.2_Silent_p.K1090K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1632	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAATTGCCAAGAGTTACCAGG	0.478		NaN											0	0	0	0.014758	0	5	41				
RUSC2	9853	broad.mit.edu	37	9	35547473	35547473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:35547473G>A	uc003zww.2	+	2	1210	c.955G>A	c.(955-957)GCC>ACC	p.A319T	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	319						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCCTGGCGCCTTCTATCT	0.567		NaN											0	0	0	0.00308	0	7	61				
FAM75A6	389730	broad.mit.edu	37	9	43625185	43625185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:43625185G>A	uc011lrb.1	-	4	3531	c.3502C>T	c.(3502-3504)CAG>TAG	p.Q1168*		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1168						integral to membrane					0						AAAATCCACTGAAAAAATTGC	0.428		NaN											0	0	0	0.013537	0	9	186				
C9orf3	84909	broad.mit.edu	37	9	97767884	97767884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:97767884G>C	uc004ava.2	+	12	2236	c.2101G>C	c.(2101-2103)GAG>CAG	p.E701Q	C9orf3_uc004auy.2_Missense_Mutation_p.E602Q|C9orf3_uc004auz.1_Missense_Mutation_p.E602Q|C9orf3_uc004avc.2_Missense_Mutation_p.E156Q|C9orf3_uc011luj.1_Missense_Mutation_p.E63Q|C9orf3_uc011luk.1_Missense_Mutation_p.E42Q|C9orf3_uc004avd.2_Missense_Mutation_p.E63Q|C9orf3_uc004ave.1_RNA	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	701					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAGAAGGAAGAGGTGTTTGA	0.522		NaN											0	0	0	0.00308	0	8	59				
TDRD7	23424	broad.mit.edu	37	9	100249560	100249560	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:100249560C>T	uc004axj.2	+	16	3247	c.3022C>T	c.(3022-3024)CTA>TTA	p.L1008L	TDRD7_uc011lux.1_Silent_p.L934L|TDRD7_uc011luy.1_Silent_p.L328L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1008	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				AGTACAGCCCCTAGTGGACAT	0.433		NaN											0	0	0	0.00308	0	8	78				
EGFL7	51162	broad.mit.edu	37	9	139563050	139563050	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:139563050C>G	uc004cid.2	+	4	1033	c.122C>G	c.(121-123)TCC>TGC	p.S41C	EGFL7_uc004cif.2_Missense_Mutation_p.S41C|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S41C|EGFL7_uc004cie.2_Missense_Mutation_p.S41C|EGFL7_uc004cih.2_Missense_Mutation_p.S41C|MIR126_hsa-mir-126|MI0000471_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	41	EMI.				angiogenesis|vasculogenesis		calcium ion binding			ovary(1)	1	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GACCCTGTCTCCGAGTCGTTC	0.677		NaN											0	0	0	0.008291	0	11	97				
IL1RAPL2	26280	broad.mit.edu	37	X	104478538	104478538	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:104478538G>C	uc004elz.1	+	4	1149	c.393G>C	c.(391-393)TTG>TTC	p.L131F		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	131	Ig-like C2-type 1.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						CAATGTCCTTGACTGTTGCAG	0.393		NaN											0	0	0	0.006214	0	9	71				
RIPPLY1	92129	broad.mit.edu	37	X	106144121	106144121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106144121G>A	uc004emr.1	-	4	358	c.314C>T	c.(313-315)TCC>TTC	p.S105F	MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.S58F	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	ripply1 homolog	105	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus					0						GAAGGAGCGGGATTTAGGCCA	0.512		NaN											0	0	0	0.014758	0	5	6				
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106171926G>A	uc004emq.1	+	2	987	c.468G>A	c.(466-468)ATG>ATA	p.M156I	MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.M156I	NM_020384	NP_065117	P57739	CLD2_HUMAN	claudin 2	156	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1						CTGACAGCATGAAATTTGAGA	0.478		NaN											0	0	0	0.016723	0	14	63				
CUL4B	8450	broad.mit.edu	37	X	119694330	119694330	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:119694330C>T	uc004esw.2	-	3	655	c.218G>A	c.(217-219)AGA>AAA	p.R73K	CUL4B_uc004esv.2_Missense_Mutation_p.R55K	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	73	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						AAAGTCTTCTCTCTCGTTAct	0.438		NaN											0	0	0	0.014758	0	5	15				
ODZ1	10178	broad.mit.edu	37	X	123805551	123805551	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:123805551C>T	uc004euj.2	-	6	1214	c.1150G>A	c.(1150-1152)GAT>AAT	p.D384N	ODZ1_uc011muj.1_Missense_Mutation_p.D383N|ODZ1_uc010nqy.2_Missense_Mutation_p.D384N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	384	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCTGATTTATCAGAAACTTTT	0.398		NaN											0	0	0	0.004482	0	9	55				
ARHGAP36	158763	broad.mit.edu	37	X	130219951	130219951	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:130219951A>T	uc004evz.2	+	9	1514	c.1169A>T	c.(1168-1170)AAA>ATA	p.K390I	ARHGAP36_uc004ewa.2_Missense_Mutation_p.K378I|ARHGAP36_uc004ewb.2_Missense_Mutation_p.K359I|ARHGAP36_uc004ewc.2_Missense_Mutation_p.K254I	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	390	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						CTCCTGAAAAAAGGAAAGTTT	0.468		NaN											0	0	0	0.02938	0	7	120				
HCFC1	3054	broad.mit.edu	37	X	153225574	153225574	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:153225574C>T	uc004fjp.2	-	8	1651	c.1123G>A	c.(1123-1125)GCC>ACC	p.A375T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	375					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGTTGGCGCGTACCAGT	0.617		NaN											0	0	0	0.004672	0	3	11				
PTCHD2	57540	broad.mit.edu	37	1	11561646	11561646	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:11561646G>C	uc001ash.3	+	2	735	c.597G>C	c.(595-597)CGG>CGC	p.R199R	PTCHD2_uc001asi.1_Silent_p.R199R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	199	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGCCAATCGGAGCGGGCGAC	0.687		NaN											0	0	0	0.038147	0	7	6				
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	by1000genomes	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:38197144C>T	uc009vvi.2	-	7	1688	c.1602G>A	c.(1600-1602)CCG>CCA	p.P534P	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	534	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597		NaN											0	0	0	0.059317	0	30	63				
MACF1	23499	broad.mit.edu	37	1	39818703	39818703	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818703G>C	uc010oiu.1	+	8	6675	c.6544G>C	c.(6544-6546)GAG>CAG	p.E2182Q	MACF1_uc010ois.1_Missense_Mutation_p.E1680Q|MACF1_uc001cda.1_Missense_Mutation_p.E1588Q|MACF1_uc001cdc.1_Missense_Mutation_p.E767Q|MACF1_uc001cdb.1_Missense_Mutation_p.E767Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3747					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACTGGCAGAGAACAAGAA	0.473		NaN											0	0	0	0.020292	0	12	23				
MACF1	23499	broad.mit.edu	37	1	39818900	39818900	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:39818900G>A	uc010oiu.1	+	8	6872	c.6741G>A	c.(6739-6741)ATG>ATA	p.M2247I	MACF1_uc010ois.1_Missense_Mutation_p.M1745I|MACF1_uc001cda.1_Missense_Mutation_p.M1653I|MACF1_uc001cdc.1_Missense_Mutation_p.M832I|MACF1_uc001cdb.1_Missense_Mutation_p.M832I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3812					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAGATGATGAAGGTAAGGG	0.299		NaN											0	0	0	0.047766	0	9	11				
RNF220	55182	broad.mit.edu	37	1	45101242	45101242	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:45101242G>A	uc001clv.1	+	7	1335	c.975G>A	c.(973-975)AGG>AGA	p.R325R	RNF220_uc001clw.1_Silent_p.R325R|RNF220_uc010okx.1_Silent_p.R86R|RNF220_uc010oky.1_Silent_p.R86R|RNF220_uc010okz.1_Silent_p.R41R|RNF220_uc001clx.1_Silent_p.R41R|RNF220_uc001cly.1_Silent_p.R4R|RNF220_uc001clz.1_Silent_p.R4R|RNF220_uc001cma.1_Silent_p.R4R|TMEM53_uc001cmb.1_3'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	325					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TGAAACGGAGGAAGCAAGATG	0.567		NaN											0	0	0	0.043863	0	17	26				
YIPF1	54432	broad.mit.edu	37	1	54332522	54332522	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:54332522C>G	uc001cvu.2	-	8	894	c.557G>C	c.(556-558)AGA>ACA	p.R186T	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	186	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						TTTGCTGTTTCTCCACATGAG	0.458		NaN											0	0	0	0.076483	0	23	28				
RAVER2	55225	broad.mit.edu	37	1	65247172	65247172	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:65247172G>A	uc001dbs.1	+	4	974	c.896G>A	c.(895-897)GGC>GAC	p.G299D	RAVER2_uc001dbt.1_Missense_Mutation_p.G178D|RAVER2_uc010opb.1_Missense_Mutation_p.G178D	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	299	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						ACCATCAAGGGCAGCAAAGTC	0.517		NaN											0	0	0	0.054565	0	35	49				
VAV3	10451	broad.mit.edu	37	1	108145726	108145726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:108145726C>A	uc001dvk.1	-	23	2129	c.2075G>T	c.(2074-2076)AGT>ATT	p.S692I	VAV3_uc010ouu.1_Missense_Mutation_p.S96I|VAV3_uc001dvj.1_Missense_Mutation_p.S132I|VAV3_uc010ouv.1_Missense_Mutation_p.S96I|VAV3_uc010ouw.1_Missense_Mutation_p.S692I	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	692	SH2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGGTAAGTACTATTTACCCT	0.353		NaN											1	0	0.00024832	0.009096	0.000261196	4	96				
CSF1	1435	broad.mit.edu	37	1	110466096	110466096	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:110466096G>A	uc001dyu.2	+	6	1266	c.853G>A	c.(853-855)GGG>AGG	p.G285R	CSF1_uc001dyt.2_Missense_Mutation_p.G285R|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.G285R	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	285	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCTCTGTCGGGGCCTTCAA	0.612		NaN									OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.050027	0	32	28				
IFI16	3428	broad.mit.edu	37	1	159021525	159021525	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:159021525G>A	uc001ftg.2	+	9	1844	c.1554G>A	c.(1552-1554)CAG>CAA	p.Q518Q	IFI16_uc010pis.1_Silent_p.Q518Q|IFI16_uc001fth.2_Silent_p.Q61Q|IFI16_uc010pit.1_Silent_p.Q117Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					ACAGTGCCCAGAGTGACCTCA	0.418		NaN											0	0	0	0.104719	0	44	56				
PRDX6	9588	broad.mit.edu	37	1	173454533	173454533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:173454533G>T	uc001giy.1	+	3	337	c.286G>T	c.(286-288)GAA>TAA	p.E96*		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						AGAGCCCACAGAAAAGTTACC	0.438		NaN											1	0	3.1745e-13	0.037714	3.60623e-13	30	35				
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:200967639G>A	uc001gvs.1	-	14	2267	c.1950C>T	c.(1948-1950)ATC>ATT	p.I650I	KIF21B_uc001gvr.1_Silent_p.I650I|KIF21B_uc009wzl.1_Silent_p.I650I|KIF21B_uc010ppn.1_Silent_p.I650I	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	650	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCAGCTCGTCGATCAGCTTCT	0.562		NaN											0	0	0	0.045705	0	32	62				
EPRS	2058	broad.mit.edu	37	1	220162081	220162081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:220162081G>A	uc001hly.1	-	19	2896	c.2626C>T	c.(2626-2628)CAG>TAG	p.Q876*	EPRS_uc010puf.1_Nonsense_Mutation_p.Q627*|EPRS_uc001hlz.1_Nonsense_Mutation_p.Q883*	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	876	WHEP-TRS 2.|3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGGGGGCTGACCAGGTATG	0.403		NaN											0	0	0	0.048971	0	66	62				
RAB3GAP2	25782	broad.mit.edu	37	1	220331158	220331158	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:220331158G>C	uc010puk.1	-	30	3486	c.3322C>G	c.(3322-3324)CAG>GAG	p.Q1108E	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q688E|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.Q52E	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1108					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		ATTAAGATCTGAAGAAGATCC	0.363		NaN											0	0	0	0.043863	0	16	17				
FAM36A	116228	broad.mit.edu	37	1	245006464	245006464	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr1:245006464A>G	uc001iar.2	+	4	721	c.343A>G	c.(343-345)AGC>GGC	p.S115G	FAM36A_uc001ias.2_RNA|FAM36A_uc001iat.2_RNA|NCRNA00201_uc001iav.2_RNA	NM_198076	NP_932342	Q5RI15	FA36A_HUMAN	hypothetical protein LOC116228	115						integral to membrane					0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ACACAACGGCAGCAGCAGCAA	0.363		NaN											0	0	0	0.049695	0	19	31				
ZNF25	219749	broad.mit.edu	37	10	38241395	38241395	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:38241395C>T	uc001ize.1	-	6	1136	c.1031G>A	c.(1030-1032)TGT>TAT	p.C344Y	ZNF25_uc001izf.1_Missense_Mutation_p.C308Y	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	344	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACATTTATTACATTCAAAGGG	0.413		NaN											0	0	0	0.028581	0	17	29				
LRRC20	55222	broad.mit.edu	37	10	72061222	72061222	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:72061222C>T	uc001jqx.1	-	5	665	c.443G>A	c.(442-444)AGC>AAC	p.S148N	LRRC20_uc001jqy.1_Missense_Mutation_p.S92N|LRRC20_uc001jqz.1_Missense_Mutation_p.S98N	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20 isoform 1	148	LRR 5.										0						GAGGTTGATGCTGCGCAAGGC	0.592		NaN											0	0	0	0.048971	0	45	74				
CAMK2G	818	broad.mit.edu	37	10	75602237	75602237	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:75602237G>C	uc001jvv.1	-	11	982	c.858C>G	c.(856-858)TTC>TTG	p.F286L	CAMK2G_uc001jvm.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvo.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvq.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvr.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvp.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvs.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.F272L|CAMK2G_uc010qkv.1_Missense_Mutation_p.F13L|CAMK2G_uc009xrp.1_5'Flank	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	294	Calmodulin-binding.|Calmodulin-binding (By similarity).				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					TCCGGGCATTGAACTTGCGCA	0.542		NaN											0	0	0	0.108266	0	23	31				
KCNMA1	3778	broad.mit.edu	37	10	78799315	78799315	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:78799315G>A	uc001jxn.2	-	15	2007	c.1830C>T	c.(1828-1830)TTC>TTT	p.F610F	KCNMA1_uc001jxj.2_Silent_p.F610F|KCNMA1_uc001jxk.1_Silent_p.F225F|KCNMA1_uc009xrt.1_Silent_p.F430F|KCNMA1_uc001jxl.1_Silent_p.F264F|KCNMA1_uc001jxo.2_Silent_p.F610F|KCNMA1_uc001jxm.2_Silent_p.F610F|KCNMA1_uc001jxq.2_Silent_p.F610F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	610	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ACAGACCCACGAAGGCACTGG	0.448		NaN											0	0	0	0.028581	0	17	26				
BTAF1	9044	broad.mit.edu	37	10	93751913	93751913	+	Silent	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr10:93751913C>A	uc001khr.2	+	21	2990	c.2892C>A	c.(2890-2892)GTC>GTA	p.V964V	BTAF1_uc001kht.1_Silent_p.V402V	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	964					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				ACCATACTGTCACCAAGCACA	0.398		NaN											1	0	6.84511e-11	0.059317	7.53493e-11	32	36				
EIF4G2	1982	broad.mit.edu	37	11	10821251	10821251	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:10821251C>G	uc001mjc.2	-	19	2589	c.2172G>C	c.(2170-2172)CTG>CTC	p.L724L	EIF4G2_uc001mjb.2_Silent_p.L518L|EIF4G2_uc009ygf.2_Silent_p.L518L|EIF4G2_uc001mjd.2_Silent_p.L686L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	724	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATAAGAAACTCAGTCCCTTTC	0.378		NaN											0	0	0	0.11126	0	40	45				
CYP2R1	120227	broad.mit.edu	37	11	14900872	14900872	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:14900872T>C	uc001mlr.2	-	4	1118	c.1118A>G	c.(1117-1119)AAT>AGT	p.N373S	CYP2R1_uc001mlo.2_Missense_Mutation_p.N140S|CYP2R1_uc001mlp.2_Missense_Mutation_p.N256S|CYP2R1_uc001mlq.2_Intron	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	373					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TGGAACTATATTACAGAATCT	0.368		NaN											0	0	0	0.055883	0	20	27				
SLC1A2	6506	broad.mit.edu	37	11	35308446	35308446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr11:35308446C>A	uc001mwd.2	-	8	1736	c.1144G>T	c.(1144-1146)GAT>TAT	p.D382Y	SLC1A2_uc001mwe.2_Missense_Mutation_p.D373Y|SLC1A2_uc010rev.1_Missense_Mutation_p.D382Y	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	382					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACACGCTTATCAATCCCCAGA	0.458		NaN											1	0	3.30712e-30	0.048971	3.97975e-30	65	88				
COPS7A	50813	broad.mit.edu	37	12	6837406	6837406	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:6837406C>G	uc001qqj.2	+	4	495	c.256C>G	c.(256-258)CCT>GCT	p.P86A	COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Missense_Mutation_p.P86A|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.P86A|COPS7A_uc001qqi.2_Missense_Mutation_p.P86A|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.P86A|COPS7A_uc001qqo.2_Missense_Mutation_p.P86A	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	86	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						CCGGAATCTTCCTCCACTAAC	0.512		NaN											0	0	0	0.043863	0	17	49				
RIMKLB	57494	broad.mit.edu	37	12	8926379	8926379	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:8926379G>C	uc001quu.2	+	6	1411	c.1160G>C	c.(1159-1161)TGA>TCA	p.*387S	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Nonstop_Mutation_p.*387S|RIMKLB_uc010sgl.1_Nonstop_Mutation_p.*387S|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	387					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CTGGTGGACTGACTCCACTGG	0.458		NaN											0	0	0	0.048971	0	53	58				
MGP	4256	broad.mit.edu	37	12	15035937	15035937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:15035937G>A	uc001rcn.1	-	3	242	c.139C>T	c.(139-141)CAG>TAG	p.Q47*		NM_000900	NP_000891	P08493	MGP_HUMAN	matrix Gla protein precursor	47					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			ovary(1)	1						CATCTCTGCTGAGGGGATATG	0.393		NaN											0	0	0	0.050027	0	24	31				
ITGA7	3679	broad.mit.edu	37	12	56088080	56088080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:56088080G>A	uc001shh.2	-	18	2624	c.2404C>T	c.(2404-2406)CGA>TGA	p.R802*	ITGA7_uc001shg.2_Nonsense_Mutation_p.R798*|ITGA7_uc010sps.1_Nonsense_Mutation_p.R705*|ITGA7_uc009znw.2_Nonsense_Mutation_p.R45*|ITGA7_uc009znx.2_Nonsense_Mutation_p.R679*	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	842	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						ACACGGGCTCGTGCAGAGACT	0.602		NaN											0	0	0	0.048971	0	118	77				
TMTC2	160335	broad.mit.edu	37	12	83289890	83289890	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:83289890C>G	uc001szt.2	+	3	1380	c.948C>G	c.(946-948)TTC>TTG	p.F316L	TMTC2_uc001szr.1_Missense_Mutation_p.F316L|TMTC2_uc001szs.1_Missense_Mutation_p.F316L|TMTC2_uc010suk.1_Missense_Mutation_p.F71L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	316	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CTGTGGCCTTCTATACTGGAC	0.458		NaN											0	0	0	0.080422	0	36	107				
RPH3A	22895	broad.mit.edu	37	12	113304588	113304588	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:113304588G>C	uc010syl.1	+	7	749	c.387G>C	c.(385-387)GAG>GAC	p.E129D	RPH3A_uc001ttz.2_Missense_Mutation_p.E129D|RPH3A_uc001tty.2_Missense_Mutation_p.E125D|RPH3A_uc009zwe.1_Missense_Mutation_p.E125D|RPH3A_uc010sym.1_Missense_Mutation_p.E80D|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	129	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGGAGTGGAGACCAACAACC	0.562		NaN											0	0	0	0.004672	0	3	16				
RSRC2	65117	broad.mit.edu	37	12	122999747	122999747	+	Silent	SNP	C	C	T	rs142949567		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122999747C>T	uc001ucr.2	-	6	776	c.630G>A	c.(628-630)CCG>CCA	p.P210P	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Silent_p.P151P|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Silent_p.P162P|RSRC2_uc001ucu.2_Silent_p.P210P	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	210										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAAATCTTCTCGGCTTTTCAA	0.383		NaN											0	0	0	0.009096	0	4	105				
C13orf28	122258	broad.mit.edu	37	13	113053427	113053427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr13:113053427C>A	uc001vsd.1	+	4	320	c.289C>A	c.(289-291)CAT>AAT	p.H97N		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	97						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					TGAGAATTACCATGAATTATT	0.373		NaN											1	0	3.41278e-10	0.0333	3.69935e-10	17	32				
CHD8	57680	broad.mit.edu	37	14	21868445	21868445	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr14:21868445C>T	uc001was.1	-	24	3849	c.3755G>A	c.(3754-3756)CGT>CAT	p.R1252H	CHD8_uc001war.1_Missense_Mutation_p.R1148H|SNORD8_uc001wau.1_5'Flank|CHD8_uc001wav.1_Missense_Mutation_p.R702H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1531					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCGTCCACGAGGCACAGG	0.403		NaN											0	0	0	0.020292	0	13	24				
VPS13C	54832	broad.mit.edu	37	15	62201309	62201309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:62201309C>G	uc002agz.2	-	65	8934	c.8860G>C	c.(8860-8862)GTG>CTG	p.V2954L	VPS13C_uc002aha.2_Missense_Mutation_p.V2911L|VPS13C_uc002ahb.1_Missense_Mutation_p.V2954L|VPS13C_uc002ahc.1_Missense_Mutation_p.V2911L|VPS13C_uc002ahd.1_Missense_Mutation_p.V331L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2954					protein localization					ovary(2)	2						TTTACATCCACCAAGATACCC	0.353		NaN											0	0	0	0.062417	0	19	41				
NEO1	4756	broad.mit.edu	37	15	73528817	73528817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:73528817C>G	uc002avm.3	+	8	1563	c.1421C>G	c.(1420-1422)TCT>TGT	p.S474C	NEO1_uc010ukx.1_Missense_Mutation_p.S474C|NEO1_uc010uky.1_Missense_Mutation_p.S474C|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.S139C	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	474	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CTTACCTACTCTGTGTTCTAC	0.567		NaN											0	0	0	0.080422	0	33	55				
SNX33	257364	broad.mit.edu	37	15	75942367	75942367	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr15:75942367G>C	uc002bau.2	+	1	1020	c.924G>C	c.(922-924)CGG>CGC	p.R308R	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	308	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						AGCGGAAGCGGAGACTCATCC	0.582		NaN											0	0	0	0.080422	0	37	72				
CLEC16A	23274	broad.mit.edu	37	16	11114144	11114144	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:11114144C>T	uc002dao.2	+	12	1628	c.1398C>T	c.(1396-1398)AGC>AGT	p.S466S	CLEC16A_uc002dan.3_Silent_p.S448S	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	466								p.0?(1)		ovary(1)|central_nervous_system(1)	2						AGGAGAAAAGCGCCGCCGCCA	0.617		NaN											0	0	0	0.009096	0	4	16				
C16orf87	388272	broad.mit.edu	37	16	46836943	46836943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:46836943G>C	uc002eek.1	-	4	399	c.386C>G	c.(385-387)TCT>TGT	p.S129C		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	hypothetical protein LOC388272	129	Potential.										0						CTTTTCATCAGACAGGTTAGC	0.313		NaN											0	0	0	0.024245	0	16	23				
ABCC11	85320	broad.mit.edu	37	16	48250187	48250187	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:48250187G>C	uc002eff.1	-	6	1139	c.789C>G	c.(787-789)TTC>TTG	p.F263L	ABCC11_uc002efg.1_Missense_Mutation_p.F263L|ABCC11_uc002efh.1_Missense_Mutation_p.F263L|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.F263L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	263	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACCGGTGAAGAAGCTGATGG	0.552		NaN							Cerumen_Type				0	0	0	0.048971	0	49	50				
RPGRIP1L	23322	broad.mit.edu	37	16	53721797	53721797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:53721797C>G	uc002ehp.2	-	5	674	c.610G>C	c.(610-612)GCC>CCC	p.A204P	RPGRIP1L_uc002eho.3_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.A204P|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.A204P|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.A204P	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	204	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TCTCCTCTGGCTTCTTCAAGT	0.303		NaN											0	0	0	0.048971	0	40	84				
NOB1	28987	broad.mit.edu	37	16	69776441	69776441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:69776441G>A	uc002exs.2	-	9	1049	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	345						nucleus	metal ion binding|protein binding				0						TGAGGGAAGCGCTGATCCTCG	0.552		NaN											0	0	0	0.069456	0	33	37				
FANCA	2175	broad.mit.edu	37	16	89869700	89869700	+	Silent	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr16:89869700C>G	uc002fou.1	-	8	801	c.759G>C	c.(757-759)CTG>CTC	p.L253L	FANCA_uc010vpn.1_Silent_p.L253L|FANCA_uc002fov.1_Silent_p.L236L|FANCA_uc002fow.1_Silent_p.L253L|FANCA_uc002fox.1_Silent_p.L253L|FANCA_uc010ciu.1_Silent_p.L221L|FANCA_uc002foy.2_Silent_p.L253L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	253					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGTTCTTCTCAGATCTGAGT	0.393		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.048971	0	52	60				
KIAA0664	23277	broad.mit.edu	37	17	2598209	2598209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:2598209C>T	uc002fuy.1	-	16	2763	c.2677G>A	c.(2677-2679)GAG>AAG	p.E893K	KIAA0664_uc002fux.1_Missense_Mutation_p.E826K|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	893							binding			breast(2)	2						TTCCAGAGCTCCTGGGGGGTC	0.632		NaN											0	0	0	0.02938	0	7	0				
MYH2	4620	broad.mit.edu	37	17	10430322	10430322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:10430322G>C	uc010coi.2	-	29	4051	c.3923C>G	c.(3922-3924)TCA>TGA	p.S1308*	uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.S1308*|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1308	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTTGCCTCTTGATAACTGAGA	0.373		NaN											0	0	0	0.099896	0	25	3				
MYO15A	51168	broad.mit.edu	37	17	18082089	18082089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:18082089G>T	uc010vxh.1	+	65	10836	c.10498G>T	c.(10498-10500)GAA>TAA	p.E3500*	uc002gsn.2_Intron|MYO15A_uc010vxi.1_Missense_Mutation_p.G781V|MYO15A_uc002gsl.2_Missense_Mutation_p.G532V|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3500	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCAGGGACTGGAACTGTGTCG	0.592		NaN											1	0	1.85244e-09	0.083992	1.99278e-09	19	6				
KIAA0100	9703	broad.mit.edu	37	17	26943411	26943411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:26943411G>A	uc002hbu.2	-	36	6373	c.6274C>T	c.(6274-6276)CGC>TGC	p.R2092C	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.R421C	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2092						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GGCGATTTGCGAAATGACCTT	0.527		NaN											0	0	0	0.074837	0	35	108				
NF1	4763	broad.mit.edu	37	17	29657369	29657369	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:29657369G>A	uc002hgg.2	+	39	5998	c.5665G>A	c.(5665-5667)GAG>AAG	p.E1889K	NF1_uc002hgh.2_Missense_Mutation_p.E1868K|NF1_uc002hgi.1_Missense_Mutation_p.E901K|NF1_uc010cso.2_Missense_Mutation_p.E77K	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1889					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAAAAATCGAGGGCCAGTT	0.393		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.09836	0	38	75		Valid		
ADAM11	4185	broad.mit.edu	37	17	42855099	42855099	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:42855099G>C	uc002ihh.2	+	23	1938	c.1938G>C	c.(1936-1938)CTG>CTC	p.L646L	ADAM11_uc010wjd.1_Silent_p.L446L|ADAM11_uc002ihi.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	646	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GCTCTGACCTGAGCTATGTGG	0.642		NaN											0	0	0	0.059317	0	31	22				
GNGT2	2793	broad.mit.edu	37	17	47284179	47284179	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:47284179G>C	uc002ioo.1	-	4	457	c.150C>G	c.(148-150)CTC>CTG	p.L50L		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	50					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGATGCCTTTGAGAAAAGGAT	0.493		NaN											0	0	0	0.048971	0	60	44				
TOB1	10140	broad.mit.edu	37	17	48940623	48940623	+	Silent	SNP	T	T	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:48940623T>C	uc002isw.2	-	1	791	c.756A>G	c.(754-756)CCA>CCG	p.P252P	TOB1_uc010wmy.1_Silent_p.P252P|TOB1_uc010wmz.1_Silent_p.P252P	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	252	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gtggtggtggtggcggtggcg	0.264		NaN											0	0	0	0.004672	0	3	34				
ABCA10	10349	broad.mit.edu	37	17	67148283	67148283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:67148283C>G	uc010dfa.1	-	37	5177	c.4298G>C	c.(4297-4299)AGA>ACA	p.R1433T	ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.R425T|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1433	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TAAATAATCTCTACCAAACTT	0.388		NaN											0	0	0	0.049695	0	19	36				
EIF4A3	9775	broad.mit.edu	37	17	78120641	78120641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:78120641G>C	uc010wuc.1	-	2	193	c.120C>G	c.(118-120)TTC>TTG	p.F40L	EIF4A3_uc002jxs.2_Missense_Mutation_p.F40L	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	40	Q motif.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CCATGGTGTCGAACGTGGGGG	0.473		NaN											0	0	0	0.09319	0	12	45				
LAMA3	3909	broad.mit.edu	37	18	21357556	21357556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:21357556G>C	uc002kuq.2	+	11	1527	c.1441G>C	c.(1441-1443)GAA>CAA	p.E481Q	LAMA3_uc010dlv.1_Missense_Mutation_p.E481Q|LAMA3_uc002kur.2_Missense_Mutation_p.E481Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	481	Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAAGTTCAGAAGATCCAGT	0.328		NaN											0	0	0	0.064281	0	32	64				
DCC	1630	broad.mit.edu	37	18	50923757	50923757	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50923757C>A	uc002lfe.1	+	18	3355	c.2768C>A	c.(2767-2769)ACA>AAA	p.T923K	DCC_uc010xdr.1_Missense_Mutation_p.T751K|DCC_uc010dpf.1_Missense_Mutation_p.T558K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	923	Extracellular (Potential).|Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTCATGGTAACAAAAAACAGA	0.423		NaN											1	0	0.00909568	0.009096	0.00935932	4	68				
DCC	1630	broad.mit.edu	37	18	50985745	50985745	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:50985745C>A	uc002lfe.1	+	24	4123	c.3536C>A	c.(3535-3537)CCC>CAC	p.P1179H	DCC_uc010dpf.1_Missense_Mutation_p.P814H	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1179	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGACTCTCCCATCCAAAGT	0.478		NaN											1	0	2.40265e-35	0.048971	2.91604e-35	55	64				
ZNF532	55205	broad.mit.edu	37	18	56587489	56587489	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr18:56587489A>C	uc002lho.2	+	4	2517	c.1970A>C	c.(1969-1971)AAC>ACC	p.N657T	ZNF532_uc002lhp.2_Missense_Mutation_p.N655T|ZNF532_uc010xeg.1_Missense_Mutation_p.N655T|ZNF532_uc002lhr.2_Missense_Mutation_p.N655T|ZNF532_uc002lhs.2_Missense_Mutation_p.N655T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTTTTTTACAACAAATGCAGC	0.478		NaN											0	0	0	0.004672	0	3	60				
NOTCH3	4854	broad.mit.edu	37	19	15276879	15276879	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:15276879C>A	uc002nan.2	-	30	5462	c.5386G>T	c.(5386-5388)GCT>TCT	p.A1796S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1796	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGAAGGAAGCCAGCATTAGC	0.552		NaN											1	0	3.45872e-05	0.028581	3.66521e-05	16	23				
ANKRD27	84079	broad.mit.edu	37	19	33117659	33117659	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:33117659G>T	uc002ntn.1	-	16	1651	c.1495C>A	c.(1495-1497)CCG>ACG	p.P499T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	499	ANK 3.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AGGTGGAGCGGAGTGGCTCCA	0.607		NaN											1	0	1.6384e-10	0.02938	1.78964e-10	5	2				
KIAA0355	9710	broad.mit.edu	37	19	34791438	34791438	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:34791438C>T	uc002nvd.3	+	2	919	c.60C>T	c.(58-60)GGC>GGT	p.G20G	KIAA0355_uc010edk.1_Silent_p.G10G	NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	20										ovary(1)	1	Esophageal squamous(110;0.162)					TCCTGCTTGGCGGGTCCAAGC	0.622		NaN											0	0	0	0.004672	0	3	43				
PRX	57716	broad.mit.edu	37	19	40902836	40902836	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40902836C>T	uc002onr.2	-	7	1692	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	PRX_uc002onq.2_Missense_Mutation_p.E336K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	475	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|7.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTTTCATCTCTGACACCTTG	0.582		NaN											0	0	0	0.048971	0	56	95				
PRX	57716	broad.mit.edu	37	19	40903232	40903232	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:40903232C>T	uc002onr.2	-	7	1296	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	PRX_uc002onq.2_Missense_Mutation_p.E204K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	343					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCACCTCTGCACCCGGC	0.652		NaN											0	0	0	0.062417	0	17	31				
KLK12	43849	broad.mit.edu	37	19	51535219	51535219	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:51535219C>T	uc002pvg.1	-	3	490	c.370G>A	c.(370-372)GTT>ATT	p.V124I	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.V124I|KLK12_uc002pvi.1_Missense_Mutation_p.V124I|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	124	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGGGTTGAACGCTGCTGGTT	0.677		NaN											0	0	0	0.043863	0	19	32				
LILRA2	11027	broad.mit.edu	37	19	55085555	55085555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:55085555G>A	uc002qgg.3	+	2	136	c.47G>A	c.(46-48)GGC>GAC	p.G16D	LILRA2_uc010ern.2_Missense_Mutation_p.G16D|LILRA2_uc002qgf.2_Missense_Mutation_p.G16D|LILRA2_uc010yfe.1_Missense_Mutation_p.G16D|LILRA2_uc010yff.1_Intron|LILRA2_uc010ero.2_Intron|LILRA2_uc010yfg.1_Missense_Mutation_p.G16D	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	16					defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CTGAGTCTGGGCCCCAGGACC	0.647		NaN											0	0	0	0.041601	0	31	53				
ZSCAN1	284312	broad.mit.edu	37	19	58563891	58563891	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:58563891G>A	uc002qrc.1	+	5	746	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTGGCAGCAGCCCCAGCACT	0.652		NaN											0	0	0	0.059317	0	32	25				
DYSF	8291	broad.mit.edu	37	2	71748031	71748031	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:71748031G>A	uc002sie.2	+	11	1426	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	DYSF_uc010feg.2_Silent_p.A381A|DYSF_uc010feh.2_Silent_p.A350A|DYSF_uc002sig.3_Silent_p.A350A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A350A|DYSF_uc010fef.2_Silent_p.A381A|DYSF_uc010fei.2_Silent_p.A381A|DYSF_uc010fek.2_Silent_p.A382A|DYSF_uc010fej.2_Silent_p.A351A|DYSF_uc010fel.2_Silent_p.A351A|DYSF_uc010feo.2_Silent_p.A382A|DYSF_uc010fem.2_Silent_p.A351A|DYSF_uc010fen.2_Silent_p.A382A|DYSF_uc002sif.2_Silent_p.A351A	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	350	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGGACGAAGCGCCTGTGAGTA	0.532		NaN											0	0	0	0.0333	0	17	28				
SLC5A7	60482	broad.mit.edu	37	2	108626805	108626805	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:108626805G>C	uc002tdv.2	+	9	1507	c.1231G>C	c.(1231-1233)GAC>CAC	p.D411H	SLC5A7_uc010ywm.1_Missense_Mutation_p.D164H|SLC5A7_uc010fjj.2_Missense_Mutation_p.D411H|SLC5A7_uc010ywn.1_Missense_Mutation_p.D298H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	411	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	CCTCAGTTCTGACCTTGTTTA	0.488		NaN											0	0	0	0.041601	0	32	40				
LRP1B	53353	broad.mit.edu	37	2	141457909	141457909	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:141457909C>G	uc002tvj.1	-	41	7681	c.6709G>C	c.(6709-6711)GGT>CGT	p.G2237R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2237	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGTTGGTACCTTTTCTTCTT	0.348		NaN								TSP Lung(27;0.18)			0	0	0	0.09836	0	42	55				
TTN	7273	broad.mit.edu	37	2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:179650718C>T	uc010zfg.1	-	14	2451	c.2227G>A	c.(2227-2229)GCC>ACC	p.A743T	TTN_uc010zfh.1_Missense_Mutation_p.A697T|TTN_uc010zfi.1_Missense_Mutation_p.A697T|TTN_uc010zfj.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	743							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGCGGCGGAAATGCGT	0.547		NaN											0	0	0	0.083992	0	24	33				
ZSWIM2	151112	broad.mit.edu	37	2	187694567	187694567	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:187694567G>T	uc002upu.1	-	8	1022	c.982C>A	c.(982-984)CTC>ATC	p.L328I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	328					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCAGTTGGAGAGGCAGTGAT	0.393		NaN											1	0	8.01111e-26	0.039052	9.55948e-26	42	64				
ECEL1	9427	broad.mit.edu	37	2	233345140	233345140	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr2:233345140G>A	uc002vsv.2	-	17	2402	c.2197C>T	c.(2197-2199)CTG>TTG	p.L733L	ECEL1_uc010fya.1_Silent_p.L731L|ECEL1_uc010fyb.1_Silent_p.L440L	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	733	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGTCAGTCAGCACCTGCAGG	0.637		NaN											0	0	0	0.0333	0	16	28				
MMP9	4318	broad.mit.edu	37	20	44640373	44640373	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:44640373C>A	uc002xqz.2	+	6	1003	c.984C>A	c.(982-984)TTC>TTA	p.F328L		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	328	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCTTCGGCTTCTGCCCGACCC	0.637		NaN									OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.12685e-05	0.047766	1.2031e-05	8	30				
SYCP2	10388	broad.mit.edu	37	20	58439419	58439419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:58439419G>A	uc002yaz.2	-	44	4679	c.4540C>T	c.(4540-4542)CGC>TGC	p.R1514C		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1514					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGTTCTCTGCGTACATTAAGA	0.299		NaN											0	0	0	0.02938	0	6	14				
C20orf20	55257	broad.mit.edu	37	20	61428556	61428556	+	Silent	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61428556G>C	uc002ydi.2	+	2	314	c.243G>C	c.(241-243)CTG>CTC	p.L81L		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	MRG-binding protein	81					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex					0	Breast(26;3.65e-08)					GGGACCATCTGAGCACCATGT	0.607		NaN											0	0	0	0.028581	0	17	33				
C20orf20	55257	broad.mit.edu	37	20	61429948	61429948	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr20:61429948G>C	uc002ydi.2	+	3	351	c.280G>C	c.(280-282)GAG>CAG	p.E94Q		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	MRG-binding protein	94					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex					0	Breast(26;3.65e-08)					GCATGAGTCTGAGATTCTTCC	0.478		NaN											0	0	0	0.048971	0	68	164				
CHODL	140578	broad.mit.edu	37	21	19632552	19632552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:19632552C>G	uc002ykv.2	+	4	974	c.583C>G	c.(583-585)CTT>GTT	p.L195V	CHODL_uc002ykr.2_Missense_Mutation_p.L154V|CHODL_uc002yks.2_Missense_Mutation_p.L154V|CHODL_uc002ykt.2_Missense_Mutation_p.L154V|CHODL_uc002yku.2_Missense_Mutation_p.L154V	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN	chondrolectin precursor	195	Extracellular (Potential).				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			upper_aerodigestive_tract(1)	1		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AAAGCCTTATCTTACAAATCA	0.323		NaN											0	0	0	0.092188	0	36	59				
BCL2L13	23786	broad.mit.edu	37	22	18171756	18171756	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18171756C>T	uc002zmw.2	+	4	452	c.234C>T	c.(232-234)TTC>TTT	p.F78F	BCL2L13_uc002zmu.2_Silent_p.F78F|BCL2L13_uc002zmv.2_Silent_p.F78F|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Silent_p.F78F|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	78					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CTTCAGCCTTCACCAGCACAG	0.323		NaN											0	0	0	0.059317	0	33	31				
MICAL3	57553	broad.mit.edu	37	22	18293495	18293495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:18293495C>G	uc002zng.3	-	28	5883	c.5530G>C	c.(5530-5532)GAG>CAG	p.E1844Q	MICAL3_uc011agl.1_Missense_Mutation_p.E1760Q|MICAL3_uc010gre.1_RNA	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1844	Potential.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTTAAGCTCCTCCTGCTTG	0.592		NaN											0	0	0	0.062417	0	20	21				
DEPDC5	9681	broad.mit.edu	37	22	32266660	32266660	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:32266660A>C	uc003als.2	+	33	3464	c.3322A>C	c.(3322-3324)AGC>CGC	p.S1108R	DEPDC5_uc011als.1_Missense_Mutation_p.S1039R|DEPDC5_uc011alu.1_Missense_Mutation_p.S1139R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1130R|DEPDC5_uc003alu.2_Missense_Mutation_p.S557R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S460R|DEPDC5_uc003alw.2_Missense_Mutation_p.S406R|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S134R|DEPDC5_uc011aly.1_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1108					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CAGAGGCAACAGCCAGACCTT	0.512		NaN											0	0	0	0.0333	0	15	32				
H1F0	3005	broad.mit.edu	37	22	38201996	38201996	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:38201996A>C	uc003aty.2	+	1	883	c.445A>C	c.(445-447)AAG>CAG	p.K149Q	GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	H1 histone family, member 0	149					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding				0	Melanoma(58;0.045)					GGCCAAGAAGAAGCTGGCTGC	0.547		NaN											0	0	0	0.059317	0	35	25				
MEI1	150365	broad.mit.edu	37	22	42126536	42126536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr22:42126536G>C	uc003baz.1	+	9	1016	c.991G>C	c.(991-993)GAG>CAG	p.E331Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.E331Q|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	331							binding			central_nervous_system(1)|skin(1)	2						GTTCCTCTTTGAGCATCTTTC	0.438		NaN											0	0	0	0.0333	0	17	20				
EDEM1	9695	broad.mit.edu	37	3	5248946	5248946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5248946C>A	uc003bqi.2	+	7	1458	c.1326C>A	c.(1324-1326)TTC>TTA	p.F442L	EDEM1_uc011asz.1_Missense_Mutation_p.F220L|EDEM1_uc003bqh.2_Missense_Mutation_p.F442L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	442	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGGCCTTTTTCCCTGGACTGC	0.458		NaN											1	0	5.44703e-19	0.11126	6.39238e-19	42	49				
EDEM1	9695	broad.mit.edu	37	3	5251877	5251877	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:5251877C>G	uc003bqi.2	+	9	1659	c.1527C>G	c.(1525-1527)TTC>TTG	p.F509L	EDEM1_uc003bqh.2_Missense_Mutation_p.F509L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	509	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGAATCCCTTCTACCTCCATG	0.448		NaN											0	0	0	0.064281	0	31	50				
GRM7	2917	broad.mit.edu	37	3	7721860	7721860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:7721860G>A	uc003bqm.2	+	9	2850	c.2576G>A	c.(2575-2577)CGG>CAG	p.R859Q	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R859Q|GRM7_uc003bql.2_Missense_Mutation_p.R859Q|GRM7_uc003bqn.1_Missense_Mutation_p.R442Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	859	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GTCCAGAAACGGAAGCGAAGC	0.517		NaN											0	0	0	0.069288	0	22	26				
MST1R	4486	broad.mit.edu	37	3	49929005	49929005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:49929005C>A	uc003cxy.3	-	16	3625	c.3361G>T	c.(3361-3363)GAG>TAG	p.E1121*	MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1121	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTGCATCTCTGTGATGCCT	0.582		NaN											1	0	2.42023e-17	0.059317	2.81699e-17	32	32				
SENP7	57337	broad.mit.edu	37	3	101085458	101085458	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101085458C>G	uc003dut.2	-	9	1245	c.1134G>C	c.(1132-1134)TTG>TTC	p.L378F	SENP7_uc003duu.2_Missense_Mutation_p.L313F|SENP7_uc003duv.2_Missense_Mutation_p.L345F|SENP7_uc003duw.2_Missense_Mutation_p.L312F|SENP7_uc003dux.2_Missense_Mutation_p.L214F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	378					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TGGCATTACTCAAAGTCAACT	0.403		NaN											0	0	0	0.074837	0	34	41				
ZBTB11	27107	broad.mit.edu	37	3	101370486	101370486	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:101370486C>T	uc003dve.3	-	11	2916	c.2686G>A	c.(2686-2688)GCT>ACT	p.A896T		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	896	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CGGGCATCAGCCCAAGCTACT	0.418		NaN											0	0	0	0.064281	0	34	37				
EPHB3	2049	broad.mit.edu	37	3	184295484	184295484	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr3:184295484C>T	uc003foz.2	+	7	1955	c.1518C>T	c.(1516-1518)AAC>AAT	p.N506N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	506	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCAGATGAACTCCGTGCAGC	0.657		NaN											0	0	0	0.080422	0	37	42				
TACC3	10460	broad.mit.edu	37	4	1746708	1746708	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1746708G>A	uc003gdo.2	+	16	2593	c.2485G>A	c.(2485-2487)GAC>AAC	p.D829N	TACC3_uc003gdp.2_Missense_Mutation_p.D469N|TACC3_uc010ica.2_Missense_Mutation_p.D250N	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	829	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGATCTGCGACGACCTCAT	0.597		NaN											0	0	0	0.048971	0	80	5				
STBD1	8987	broad.mit.edu	37	4	77230916	77230916	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:77230916C>T	uc003hka.2	+	2	1086	c.840C>T	c.(838-840)TTC>TTT	p.F280F	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.F131F	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	280	CBM20.|Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			ATGTGCAATTCATTGCAGTAA	0.473		NaN											0	0	0	0.069288	0	21	25				
HMGB2	3148	broad.mit.edu	37	4	174254073	174254073	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:174254073C>G	uc011ckc.1	-	3	490	c.370G>C	c.(370-372)GAT>CAT	p.D124H	HMGB2_uc003ita.3_Missense_Mutation_p.D124H|HMGB2_uc003itb.2_Missense_Mutation_p.D124H|HMGB2_uc003itc.2_3'UTR	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	124	HMG box 2.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCAGTATCCCCAATGGAT	0.408		NaN											0	0	0	0.048971	0	76	104				
PPIC	5480	broad.mit.edu	37	5	122359598	122359598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:122359598G>A	uc003kth.2	-	5	716	c.611C>T	c.(610-612)CCT>CTT	p.P204L		NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	204					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AACCACAAAAGGCGTTTTCAC	0.413		NaN											0	0	0	0.048971	0	134	76				
SEPT8	23176	broad.mit.edu	37	5	132100049	132100049	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:132100049C>T	uc003kxr.2	-	3	452	c.214G>A	c.(214-216)GAG>AAG	p.E72K	SEPT8_uc003kxs.1_Missense_Mutation_p.E72K|SEPT8_uc003kxu.2_Missense_Mutation_p.E72K|SEPT8_uc011cxi.1_Missense_Mutation_p.E72K|SEPT8_uc003kxv.2_Missense_Mutation_p.E72K|SEPT8_uc003kxt.2_Missense_Mutation_p.E12K	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	72					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCTTCCTCAGTCTCGAAG	0.582		NaN											0	0	0	0.076483	0	21	11				
FBXL21	26223	broad.mit.edu	37	5	135273129	135273129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:135273129G>C	uc010jec.1	+	3	403	c.382G>C	c.(382-384)GAG>CAG	p.E128Q	FBXL21_uc003lbc.2_RNA	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	128					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGTAGCGCTGAGTCAGCAGA	0.378		NaN											0	0	0	0.080935	0	12	38				
PCDHAC1	56135	broad.mit.edu	37	5	140306671	140306671	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr5:140306671A>G	uc003lih.2	+	1	370	c.194A>G	c.(193-195)TAC>TGC	p.Y65C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.Y65C	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCTCTACTTCGGGGTG	0.637		NaN											0	0	0	0.045705	0	29	12				
HIST1H2BA	255626	broad.mit.edu	37	6	25727255	25727255	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:25727255C>G	uc003nfd.2	+	1	119	c.119C>G	c.(118-120)TCT>TGT	p.S40C	HIST1H2AA_uc003nfc.2_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	40					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)	1						GAGAGTTATTCTATTTACATC	0.428		NaN											0	0	0	0.080422	0	38	20				
OR2H2	7932	broad.mit.edu	37	6	29556637	29556637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29556637G>C	uc003nmr.1	+	1	955	c.916G>C	c.(916-918)GAA>CAA	p.E306Q	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	306	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCTGGGGAAGGAAATGGGGCT	0.478		NaN											0	0	0	0.0333	0	18	27				
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:29913231G>T	uc003nol.2	+	8	1097	c.1097G>T	c.(1096-1098)TGA>TTA	p.*366L	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372L|HLA-A_uc003noo.2_Nonsense_Mutation_p.E367*|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300L|HLA-A_uc003nom.2_Nonsense_Mutation_p.E244*|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245L|HLA-A_uc011dmd.1_3'UTR	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	366					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCTATAGTGTGAGACAGCTGC	0.448		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			1	0	2.35188e-11	0.038395	2.60912e-11	14	37				
BAT2	7916	broad.mit.edu	37	6	31597445	31597445	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:31597445C>A	uc003nvb.3	+	14	2326	c.2077C>A	c.(2077-2079)CCA>ACA	p.P693T	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P693T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	693	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TGTGCCAGCTCCACAGGCTCC	0.572		NaN											1	0	7.92952e-12	0.0918	8.93645e-12	25	41				
GSTA2	2939	broad.mit.edu	37	6	52615381	52615381	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:52615381C>A	uc003pay.2	-	7	813	c.663G>T	c.(661-663)AGG>AGT	p.R221S		NM_000846	NP_000837	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	221					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TTTATTAAAACCTGAAAATCT	0.413		NaN											1	0	0.000442599	0.058154	0.000462126	7	84				
COL12A1	1303	broad.mit.edu	37	6	75884895	75884895	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:75884895G>T	uc003phs.2	-	13	2735	c.2569C>A	c.(2569-2571)CAA>AAA	p.Q857K	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	857	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTGACCTCTTGAGTTTCACCC	0.498		NaN											1	0	5.41189e-41	0.048971	6.6249e-41	71	109				
KPNA5	3841	broad.mit.edu	37	6	117053364	117053364	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr6:117053364C>G	uc003pxh.2	+	14	1629	c.1498C>G	c.(1498-1500)CTG>GTG	p.L500V		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	497	ARM 10; atypical.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGCATTTGATCTGATTGAACA	0.343		NaN											0	0	0	0.086207	0	33	40				
FZD1	8321	broad.mit.edu	37	7	90895308	90895308	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:90895308C>T	uc003ula.2	+	1	1526	c.1113C>T	c.(1111-1113)GCC>GCT	p.A371A		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	371	Helical; Name=2; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTACATCGCCGGCTTCCTCC	0.632		NaN											0	0	0	0.041601	0	29	64				
DOCK4	9732	broad.mit.edu	37	7	111379265	111379265	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:111379265G>T	uc003vfx.2	-	48	5399	c.5130C>A	c.(5128-5130)TCC>TCA	p.S1710S	DOCK4_uc011kml.1_Silent_p.S591S|DOCK4_uc011kmm.1_Silent_p.S617S|DOCK4_uc003vfw.2_Silent_p.S1160S|DOCK4_uc003vfy.2_Silent_p.S1755S|DOCK4_uc003vfv.2_Silent_p.S23S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1710	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AGTTTTCTCGGGAATGTTTGT	0.502		NaN											1	0	0.00448238	0.047766	0.00464597	6	74				
NAT1	9	broad.mit.edu	37	8	18080042	18080042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:18080042C>G	uc010ltd.2	+	5	853	c.486C>G	c.(484-486)GAC>GAG	p.D162E	NAT1_uc003wyt.2_Missense_Mutation_p.D224E|NAT1_uc003wyu.2_Missense_Mutation_p.D162E|NAT1_uc003wyv.2_Missense_Mutation_p.D162E|NAT1_uc010ltc.2_Missense_Mutation_p.D162E|NAT1_uc003wys.2_Missense_Mutation_p.D224E|NAT1_uc003wyr.2_Missense_Mutation_p.D162E|NAT1_uc003wyq.2_Missense_Mutation_p.D162E|NAT1_uc011kyl.1_Missense_Mutation_p.D162E	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	162					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGTATCTAGACCAAATCAGAA	0.428		NaN											0	0	0	0.092188	0	39	54				
DENND3	22898	broad.mit.edu	37	8	142151335	142151335	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:142151335C>T	uc003yvy.2	+	4	573	c.295C>T	c.(295-297)CGG>TGG	p.R99W	DENND3_uc003yvw.1_Missense_Mutation_p.R112W|DENND3_uc003yvx.2_Silent_p.T177T|DENND3_uc010mep.2_Missense_Mutation_p.R112W	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	99										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAAACGCACCGGGAGTGTCC	0.537		NaN											0	0	0	0.014758	0	5	57				
ARHGAP39	80728	broad.mit.edu	37	8	145773665	145773665	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr8:145773665C>T	uc003zdt.1	-	6	1360	c.805G>A	c.(805-807)GAG>AAG	p.E269K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E269K|ARHGAP39_uc003zds.1_Missense_Mutation_p.E269K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	269	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGCCTCCTCTCTGGGAAGAAG	0.716		NaN											0	0	0	0.021553	0	6	4				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:20414340G>A	uc003zoe.2	-	5	763	c.504C>T	c.(502-504)AGC>AGT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.144		NaN	T	MLL	ALL								0	0	0	0.069288	0	12	892				
ALDH1B1	219	broad.mit.edu	37	9	38396624	38396624	+	Silent	SNP	C	C	T	rs141592792		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:38396624C>T	uc004aay.2	+	2	991	c.879C>T	c.(877-879)ATC>ATT	p.I293I		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	293					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCCCCAGCATCGTGCTGGCCG	0.617		NaN											0	0	0	0.108266	0	26	33				
FKBP15	23307	broad.mit.edu	37	9	115936807	115936807	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:115936807C>G	uc004bgs.2	-	22	2398	c.2280G>C	c.(2278-2280)GAG>GAC	p.E760D	FKBP15_uc004bgr.2_Missense_Mutation_p.E197D|FKBP15_uc011lxc.1_Missense_Mutation_p.E341D|FKBP15_uc011lxd.1_Missense_Mutation_p.E692D	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	760	Potential.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						TTTCATCTATCTCCTCCTCGG	0.468		NaN											0	0	0	0.048971	0	59	15				
TLR4	7099	broad.mit.edu	37	9	120475702	120475702	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:120475702C>T	uc004bjz.2	+	3	1587	c.1296C>T	c.(1294-1296)TCC>TCT	p.S432S	TLR4_uc004bka.2_Silent_p.S392S|TLR4_uc004bkb.2_Silent_p.S232S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	432	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TCCAGCATTCCAATTTGAAAC	0.378		NaN											0	0	0	0.086207	0	40	12				
FUBP3	8939	broad.mit.edu	37	9	133499065	133499065	+	Silent	SNP	G	G	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:133499065G>T	uc004bzr.1	+	11	1050	c.942G>T	c.(940-942)GCG>GCT	p.A314A	FUBP3_uc010mzd.1_Silent_p.A254A|FUBP3_uc004bzs.1_Silent_p.A227A	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	314	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGCATGCAGCGCATATCATCA	0.557		NaN											1	0	6.33239e-15	0.055883	7.2516e-15	19	4				
TSC1	7248	broad.mit.edu	37	9	135781358	135781358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr9:135781358A>T	uc004cca.2	-	15	1841	c.1607T>A	c.(1606-1608)TTA>TAA	p.L536*	TSC1_uc004ccb.3_Nonsense_Mutation_p.L535*|TSC1_uc011mcq.1_Nonsense_Mutation_p.L485*|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	536					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGGAGTGTAAAGGCTCAGG	0.587		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.083992	0	24	5		Valid		
FAM9B	171483	broad.mit.edu	37	X	8995957	8995957	+	Silent	SNP	C	C	T			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:8995957C>T	uc011mhu.1	-	6	533	c.444G>A	c.(442-444)AGG>AGA	p.R148R	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Silent_p.R188R	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	148						nucleus					0		Hepatocellular(5;0.219)				GCCTCTCTCTCCTAACACTTC	0.323		NaN											0	0	0	0.039052	0	37	51				
WNK3	65267	broad.mit.edu	37	X	54259293	54259293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:54259293G>A	uc004dtd.1	-	21	5087	c.4648C>T	c.(4648-4650)CGA>TGA	p.R1550*	WNK3_uc004dtc.1_Nonsense_Mutation_p.R1597*	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GGGCGGCTTCGAAGTTTGCTT	0.408		NaN											0	0	0	0.048971	0	43	39				
GPRASP1	9737	broad.mit.edu	37	X	101910483	101910483	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:101910483G>C	uc004ejj.3	+	5	2443	c.1642G>C	c.(1642-1644)GAG>CAG	p.E548Q	GPRASP1_uc004eji.3_Missense_Mutation_p.E548Q|GPRASP1_uc010nod.2_Missense_Mutation_p.E548Q	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	548	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						TGAGGAAGAAGAGGTCATTGG	0.517		NaN											0	0	0	0.048971	0	68	16				
MAGEC3	139081	broad.mit.edu	37	X	140953305	140953305	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:140953305C>A	uc011mwp.1	+	2	172	c.172C>A	c.(172-174)CAT>AAT	p.H58N		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	58										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTTGGGCATCTGAGGGA	0.512		NaN											1	0	1.17673e-23	0.048971	1.39246e-23	49	57				
VPS13D	55187	broad.mit.edu	37	1	12422812	12422812	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:12422812A>T	uc001atv.2	+	51	10319	c.10178A>T	c.(10177-10179)GAT>GTT	p.D3393V	VPS13D_uc001atw.2_Missense_Mutation_p.D3368V|VPS13D_uc001atx.2_Missense_Mutation_p.D2580V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3392					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATACATTGATACCTGCATG	0.428		NaN											0	0	0	0.048971	0	68	142				
C1orf144	26099	broad.mit.edu	37	1	16721628	16721628	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16721628G>A	uc001aym.3	+	4	622	c.452G>A	c.(451-453)CGC>CAC	p.R151H	C1orf144_uc010ocb.1_Silent_p.A114A|C1orf144_uc001ayi.3_Missense_Mutation_p.R132H|C1orf144_uc001ayk.3_Missense_Mutation_p.R131H	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN	putative MAPK activating protein PM20,PM21	151											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAACAGCGCAGATAAATG	0.582		NaN											0	0	0	0.021553	0	5	16				
NBPF1	55672	broad.mit.edu	37	1	16918403	16918403	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16918403G>C	uc009vos.1	-	7	1002	c.114C>G	c.(112-114)CTC>CTG	p.L38L	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	38						cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATTTCTCTTTGAGGTTTCTGA	0.468		NaN											0	0	0	0.048971	0	49	809				
UBR4	23352	broad.mit.edu	37	1	19441918	19441918	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:19441918C>T	uc001bbi.2	-	74	11041	c.11037G>A	c.(11035-11037)GAG>GAA	p.E3679E	UBR4_uc001bbj.1_Silent_p.E94E	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3679					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTACACATTCTCTCCACAGT	0.517		NaN											0	0	0	0.038395	0	17	35				
PPIE	10450	broad.mit.edu	37	1	40214727	40214727	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:40214727G>A	uc001cds.1	+	8	704	c.661G>A	c.(661-663)GAT>AAT	p.D221N	PPIE_uc001cdt.1_Missense_Mutation_p.D155N|PPIE_uc010oiy.1_Missense_Mutation_p.D142N|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.D221N|PPIE_uc001cdw.2_Missense_Mutation_p.D221N|PPIE_uc001cdx.1_Missense_Mutation_p.D137N	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	221	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGTTCGATGATGAAAACTT	0.557		NaN											0	0	0	0.050027	0	31	32				
CDC14A	8556	broad.mit.edu	37	1	100920981	100920981	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:100920981C>T	uc001dtg.3	+	8	1028	c.540C>T	c.(538-540)TTC>TTT	p.F180F	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Silent_p.F122F|CDC14A_uc001dte.3_Silent_p.F180F|CDC14A_uc001dtf.2_Silent_p.F180F|CDC14A_uc009wed.1_Intron|CDC14A_uc009wee.2_Silent_p.F180F	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	180	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ATGGTGACTTCAACTGGATTG	0.303		NaN											0	0	0	0.108266	0	27	38				
C1orf161	126868	broad.mit.edu	37	1	116670903	116670903	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:116670903G>A	uc001egc.1	+	6	1063	c.798G>A	c.(796-798)CTG>CTA	p.L266L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	266											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGGCACCTGAAGGAGGACA	0.587		NaN											0	0	0	0.009096	0	4	23				
NBPF9	400818	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	G	A	rs4067645	by1000genomes	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144619399G>A	uc009wig.1	+	7	622	c.546G>A	c.(544-546)GTG>GTA	p.V182V	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Silent_p.V182V|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.V113V|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.V113V|NBPF9_uc010oyg.1_Silent_p.V147V|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	182	NBPF 1.					cytoplasm					0						ATGAGAAAGTGCAGAAATCAT	0.413		NaN											0	0	0	0.024245	0	5	230				
PDE4DIP	9659	broad.mit.edu	37	1	144923818	144923818	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144923818T>C	uc001elw.3	-	6	931	c.640A>G	c.(640-642)ATG>GTG	p.M214V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	214					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTCAGTCATGGGCTAGGAA	0.403		NaN	T	PDGFRB	MPD								0	0	0	0.043863	0	19	103				
FAM63A	55793	broad.mit.edu	37	1	150974829	150974829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:150974829C>G	uc001ewf.2	-	3	1949	c.265G>C	c.(265-267)GAG>CAG	p.E89Q	FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_5'UTR|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.E137Q|FAM63A_uc001ewg.2_Missense_Mutation_p.E89Q	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	89							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTATTGTCTCTACTTCAGGC	0.582		NaN											0	0	0	0.069288	0	23	39				
IQGAP3	128239	broad.mit.edu	37	1	156503868	156503868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:156503868G>C	uc001fpf.2	-	30	3881	c.3806C>G	c.(3805-3807)TCA>TGA	p.S1269*		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1269					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCATGTCTGAGTACTCGTC	0.607		NaN											0	0	0	0.030593	0	26	47				
OLFML2B	25903	broad.mit.edu	37	1	161968053	161968053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:161968053T>A	uc001gbu.2	-	6	1460	c.1036A>T	c.(1036-1038)ACC>TCC	p.T346S	OLFML2B_uc010pkq.1_Missense_Mutation_p.T347S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	346										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCTCCGGGTGACACTGGTC	0.567		NaN											0	0	0	0.083992	0	26	70				
TNFSF4	7292	broad.mit.edu	37	1	173176222	173176222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:173176222G>A	uc001giw.2	-	1	250	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	32	Helical; Signal-anchor for type II membrane protein; (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						CCCAGTCCCTGAATTACAGAG	0.537		NaN											0	0	0	0.020292	0	15	35				
HMCN1	83872	broad.mit.edu	37	1	186113383	186113383	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186113383G>A	uc001grq.1	+	90	14232	c.14003G>A	c.(14002-14004)AGA>AAA	p.R4668K	HMCN1_uc001grs.1_Missense_Mutation_p.R237K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4668	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACAAGAGCAAGACTTTGTAAT	0.478		NaN											0	0	0	0.080422	0	37	106				
TPR	7175	broad.mit.edu	37	1	186324850	186324850	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186324850T>C	uc001grv.2	-	16	2236	c.1939A>G	c.(1939-1941)ACA>GCA	p.T647A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	647					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCTGTGATGTACTTGGACGT	0.398		NaN	T	NTRK1	papillary thyroid								0	0	0	0.041601	0	31	53				
CACNA1S	779	broad.mit.edu	37	1	201060841	201060841	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201060841G>C	uc001gvv.2	-	5	848	c.621C>G	c.(619-621)GTC>GTG	p.V207V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	207	Helical; Name=S5 of repeat I; (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATAGATGATGACCATAAAGA	0.562		NaN											0	0	0	0.105934	0	14	45				
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:202124738C>T	uc001gxm.1	-	5	523	c.392_splice	c.e5-1	p.N131_splice	PTPN7_uc001gxl.1_Splice_Site_p.N170_splice|PTPN7_uc001gxn.1_Splice_Site_p.N131_splice|PTPN7_uc010ppv.1_Splice_Site|PTPN7_uc010ppw.1_Splice_Site_p.N79_splice|PTPN7_uc010ppx.1_Splice_Site_p.N205_splice|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Splice_Site_p.N83_splice	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CTCTGGGGATCTAGGAAATAA	0.527		NaN											0	0	0	0.047766	0	7	20				
C4BPA	722	broad.mit.edu	37	1	207300089	207300089	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:207300089T>A	uc001hfo.2	+	7	932	c.738T>A	c.(736-738)CAT>CAA	p.H246Q		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	246	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						ATGTTTCACATGGGGAAATGG	0.378		NaN											0	0	0	0.069456	0	30	80				
PTPN14	5784	broad.mit.edu	37	1	214557171	214557171	+	Missense_Mutation	SNP	G	G	A	rs139115216	by1000genomes	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:214557171G>A	uc001hkk.1	-	13	2298	c.2027C>T	c.(2026-2028)CCG>CTG	p.P676L	PTPN14_uc010pty.1_Missense_Mutation_p.P577L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	676					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCCTCGGGCGGTCCCTGCTC	0.632		NaN											0	0	0	0.028581	0	16	27				
H3F3A	3020	broad.mit.edu	37	1	226252162	226252162	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:226252162A>G	uc001hpw.2	+	2	225	c.110A>G	c.(109-111)AAG>AGG	p.K37R	H3F3A_uc010pvl.1_Missense_Mutation_p.K37R	NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GGAGGGGTGAAGAAACCTCAT	0.448		NaN									OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.047766	0	9	28				
PSEN2	5664	broad.mit.edu	37	1	227071519	227071519	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:227071519G>A	uc009xeo.1	+	5	682	c.255G>A	c.(253-255)GCG>GCA	p.A85A	PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	85	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				AATACGGAGCGAAGCACGTGA	0.582		NaN											0	0	0	0.049695	0	19	50				
BMI1	648	broad.mit.edu	37	10	22616891	22616891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:22616891C>G	uc001irh.2	+	6	968	c.329C>G	c.(328-330)TCT>TGT	p.S110C	BMI1_uc009xkg.2_Missense_Mutation_p.S253C	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	110					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						GCCAATGGCTCTAATGAAGAT	0.308		NaN											0	0	0	0.028581	0	15	63				
ARMC3	219681	broad.mit.edu	37	10	23321935	23321935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:23321935C>T	uc001irm.3	+	18	2475	c.2392C>T	c.(2392-2394)CGA>TGA	p.R798*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.R791*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.R535*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798							binding				0						CTTCTACCATCGAGCTTTGCT	0.363		NaN											0	0	0	0.076483	0	20	43				
RASGEF1A	221002	broad.mit.edu	37	10	43701441	43701441	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:43701441C>T	uc001jap.1	-	2	205	c.124G>A	c.(124-126)GAT>AAT	p.D42N	RASGEF1A_uc001jao.1_Missense_Mutation_p.D50N	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	42	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGGTGTCCATCTTGGAAGATG	0.647		NaN											0	0	0	0.058154	0	10	12				
ASAH2	56624	broad.mit.edu	37	10	51974561	51974561	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:51974561C>T	uc001jjd.2	-	8	1082	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	ASAH2_uc009xos.2_Missense_Mutation_p.R361H	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase 2 isoform a	361	Lumenal (Potential).				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity				0						GTTGATGCAACGTGGTCCAAG	0.448		NaN											0	0	0	0.069288	0	19	28				
DDIT4	54541	broad.mit.edu	37	10	74034918	74034918	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:74034918C>T	uc001jsx.1	+	3	873	c.671C>T	c.(670-672)TCG>TTG	p.S224L		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	224					apoptosis					pancreas(1)	1						CTGTACAGCTCGGAACAGCTG	0.567		NaN									OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	10				
CYP26A1	1592	broad.mit.edu	37	10	94836820	94836820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:94836820G>A	uc001kil.2	+	7	1298	c.1253G>A	c.(1252-1254)CGA>CAA	p.R418Q	CYP26A1_uc001kik.1_Missense_Mutation_p.R349Q|CYP26A1_uc001kim.1_Missense_Mutation_p.R316Q	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	418					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				AATCCTGACCGATTCATGCTG	0.448		NaN											0	0	0	0.0333	0	17	51				
CYP2E1	1571	broad.mit.edu	37	10	135350733	135350733	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:135350733C>T	uc001lnj.1	+	7	1167	c.1134C>T	c.(1132-1134)TTC>TTT	p.F378F	CYP2E1_uc001lnk.1_Silent_p.F241F|CYP2E1_uc009ybl.1_Silent_p.F179F|CYP2E1_uc009ybm.1_Silent_p.F32F|CYP2E1_uc001lnl.1_Silent_p.F179F	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	378					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	ACACCATTTTCAGAGGATACC	0.542		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	0.055883	0	19	27				
SMPD1	6609	broad.mit.edu	37	11	6413286	6413286	+	Missense_Mutation	SNP	C	C	T	rs142476839		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:6413286C>T	uc001mcw.2	+	2	1165	c.991C>T	c.(991-993)CCC>TCC	p.P331S	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P331S|SMPD1_uc009yew.2_Missense_Mutation_p.P330S	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	329					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TAGCTTCCCTCCCCCCTTCAT	0.612		NaN											0	0	0	0.024245	0	13	25				
OR10A6	390093	broad.mit.edu	37	11	7949563	7949563	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:7949563A>G	uc010rbh.1	-	1	647	c.647T>C	c.(646-648)TTG>TCG	p.L216S		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGTAAGACAAGAGTATCAA	0.438		NaN											0	0	0	0.043863	0	18	43				
BEST1	7439	broad.mit.edu	37	11	61727388	61727388	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:61727388A>G	uc001nss.2	+	9	1553	c.973A>G	c.(973-975)ATG>GTG	p.M325V	BEST1_uc010rlq.1_Silent_p.R332R|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nsr.2_Missense_Mutation_p.M265V|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.M265V|BEST1_uc001nst.2_Missense_Mutation_p.M238V|BEST1_uc010rlu.1_Silent_p.R286R|BEST1_uc010rlv.1_Missense_Mutation_p.M219V	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	325	Cytoplasmic (Potential).		M -> T (in ARB).		response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						TGTGGATGAGATGCACCAGGA	0.572		NaN											0	0	0	0.004672	0	2	7				
CCDC87	55231	broad.mit.edu	37	11	66359214	66359214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:66359214G>A	uc001oiq.3	-	1	1341	c.1273C>T	c.(1273-1275)CAC>TAC	p.H425Y	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	425										ovary(1)|skin(1)	2						GGCTGTGGGTGAAGTGGAAAG	0.552		NaN											0	0	0	0.038395	0	18	39				
KIAA1826	84437	broad.mit.edu	37	11	105880796	105880796	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:105880796T>C	uc001piy.2	-	3	677	c.504A>G	c.(502-504)ATA>ATG	p.I168M	KIAA1826_uc001piz.2_Missense_Mutation_p.I168M	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	168						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TGGAATCTGGTATGACGGATG	0.393		NaN											0	0	0	0.064281	0	35	57				
MLL	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374132G>A	uc001pta.2	+	27	7539	c.7516G>A	c.(7516-7518)GAA>AAA	p.E2506K	MLL_uc001ptb.2_Missense_Mutation_p.E2509K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2506					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CATGCAAGTAGAAGGATCTGC	0.448		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.105934	0	13	31		Valid		
MLL	4297	broad.mit.edu	37	11	118374590	118374590	+	Missense_Mutation	SNP	G	G	C	rs142807735	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374590G>C	uc001pta.2	+	27	7997	c.7974G>C	c.(7972-7974)AAG>AAC	p.K2658N	MLL_uc001ptb.2_Missense_Mutation_p.K2661N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2658					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCGAGGCAAGAGATCAGCTG	0.443		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.069234	0	9	31		Valid		
MLL	4297	broad.mit.edu	37	11	118375131	118375131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118375131G>A	uc001pta.2	+	27	8538	c.8515G>A	c.(8515-8517)GAT>AAT	p.D2839N	MLL_uc001ptb.2_Missense_Mutation_p.D2842N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2839					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAACAACAGTGATGACTGTGG	0.448		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.069456	0	37	93		Valid		
PUS7L	83448	broad.mit.edu	37	12	44124323	44124323	+	Silent	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:44124323T>C	uc001rnq.3	-	9	2451	c.1962A>G	c.(1960-1962)CAA>CAG	p.Q654Q	PUS7L_uc001rnr.3_Silent_p.Q654Q|PUS7L_uc001rns.3_Silent_p.Q654Q|PUS7L_uc009zkb.2_Silent_p.Q341Q	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	654					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTCCATTAGTTGGTATGAGA	0.368		NaN											0	0	0	0.074837	0	34	92				
SLC4A8	9498	broad.mit.edu	37	12	51868160	51868160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:51868160C>T	uc001rys.1	+	15	2117	c.1939C>T	c.(1939-1941)CAC>TAC	p.H647Y	SLC4A8_uc010sni.1_Missense_Mutation_p.H594Y|SLC4A8_uc001rym.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryn.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryo.2_Missense_Mutation_p.H594Y|SLC4A8_uc010snj.1_Missense_Mutation_p.H674Y|SLC4A8_uc001ryq.3_Missense_Mutation_p.H647Y|SLC4A8_uc001ryr.2_Missense_Mutation_p.H647Y|SLC4A8_uc010snk.1_Missense_Mutation_p.H594Y	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	647	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCAAACAATCACACCCTCCA	0.458		NaN											0	0	0	0.047766	0	9	30				
MYCBP2	23077	broad.mit.edu	37	13	77743819	77743819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:77743819G>A	uc001vkf.2	-	40	5802	c.5711C>T	c.(5710-5712)TCC>TTC	p.S1904F	MYCBP2_uc010aev.2_Missense_Mutation_p.S1308F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAACAGACTGGAAGAACTCAG	0.383		NaN											0	0	0	0.043863	0	18	66				
RTN1	6252	broad.mit.edu	37	14	60212834	60212834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr14:60212834C>T	uc001xen.1	-	2	816	c.607G>A	c.(607-609)GAG>AAG	p.E203K		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	203					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCACCTCCTCGGGTCTGGTT	0.453		NaN											0	0	0	0.048971	0	70	138				
SNX22	79856	broad.mit.edu	37	15	64446590	64446590	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:64446590G>C	uc002anc.1	+	7	524	c.465G>C	c.(463-465)TCG>TCC	p.S155S	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	155					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCACAGAGTCGCTGCCCAACG	0.602		NaN									OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.049695	0	19	111				
SNX33	257364	broad.mit.edu	37	15	75941596	75941596	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:75941596T>G	uc002bau.2	+	1	249	c.153T>G	c.(151-153)TTT>TTG	p.F51L	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	51	SH3.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						CAGGGCTCTTTCCTGCCTCTT	0.587		NaN											0	0	0	0.076483	0	23	61				
IFT140	9742	broad.mit.edu	37	16	1616196	1616196	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:1616196C>G	uc002cmb.2	-	16	2229	c.1867G>C	c.(1867-1869)GAG>CAG	p.E623Q	IFT140_uc002clz.2_Missense_Mutation_p.E274Q	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	623										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GACAGCGTCTCTCTCCGATCA	0.428		NaN											0	0	0	0.048971	0	57	135				
C16orf59	80178	broad.mit.edu	37	16	2510687	2510687	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:2510687C>T	uc002cqh.2	+	3	220	c.189C>T	c.(187-189)CCC>CCT	p.P63P	C16orf59_uc002cqf.1_Silent_p.P63P|C16orf59_uc002cqg.1_5'UTR|C16orf59_uc002cqi.2_5'UTR|C16orf59_uc010uwb.1_5'Flank	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	hypothetical protein LOC80178	63											0		Ovarian(90;0.17)				GAGAGGACCCCCTTCCAGGTA	0.637		NaN											0	0	0	0.09319	0	12	16				
CPPED1	55313	broad.mit.edu	37	16	12758794	12758794	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:12758794C>G	uc002dca.3	-	4	1005	c.894G>C	c.(892-894)CTG>CTC	p.L298L	CPPED1_uc002dcb.3_Silent_p.L156L|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	298							hydrolase activity|metal ion binding				0						CTTTCTCACTCAGCTCATCTA	0.478		NaN											0	0	0	0.034045	0	26	43				
C16orf88	400506	broad.mit.edu	37	16	19726111	19726111	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:19726111C>G	uc002dgq.2	-	2	262	c.247G>C	c.(247-249)GAA>CAA	p.E83Q	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	83	Lys-rich.					nucleolus					0						GTCTCAGGTTCTACATGCTCC	0.488		NaN											0	0	0	0.038395	0	16	37				
CHD9	80205	broad.mit.edu	37	16	53272307	53272307	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:53272307A>G	uc002ehb.2	+	11	2850	c.2686A>G	c.(2686-2688)ATT>GTT	p.I896V	CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	896	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TATTCAATCAATTACATTCCT	0.358		NaN											0	0	0	0.049695	0	18	32				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:70693984C>T	uc002ezh.1	+	6	1006	c.623C>T	c.(622-624)GCG>GTG	p.A208V	IL34_uc002ezi.1_Missense_Mutation_p.A207V	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	208					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						TTGCAGTATGCGGCCACCCAG	0.647		NaN											0	0	0	0.009096	0	4	123				
HPR	3250	broad.mit.edu	37	16	72110371	72110371	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:72110371C>G	uc002fby.2	+	5	468	c.438C>G	c.(436-438)CTC>CTG	p.L146L	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	146	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				CTAAAAATCTCTTCCTGAACC	0.478		NaN											0	0	0	0.09319	0	13	24				
C17orf81	23587	broad.mit.edu	37	17	7162148	7162148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162148G>A	uc002gfg.1	+	8	846	c.739G>A	c.(739-741)GAT>AAT	p.D247N	C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.D247N|C17orf81_uc002gfi.1_Missense_Mutation_p.D247N|C17orf81_uc002gfl.1_Intron	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						CCTACAGGTGGATCCCACAAC	0.502		NaN											0	0	0	0.0333	0	18	20				
C17orf81	23587	broad.mit.edu	37	17	7162193	7162193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162193G>C	uc002gfg.1	+	8	891	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfi.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfl.1_Intron	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						GTCCAAGAAAGAGAGAGAAGC	0.512		NaN											0	0	0	0.028581	0	17	21				
NCOR1	9611	broad.mit.edu	37	17	16022773	16022773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:16022773G>A	uc002gpo.2	-	17	2119	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.R627*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R518*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R518*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	627	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTGTCCATCGAGAGGTCTCC	0.333		NaN											0	0	0	0.086207	0	31	38		Valid		
EPN2	22905	broad.mit.edu	37	17	19216560	19216560	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19216560C>A	uc002gvd.3	+	7	1563	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	EPN2_uc010cql.1_Missense_Mutation_p.P81H|EPN2_uc002gve.3_Missense_Mutation_p.P315H|EPN2_uc002gvf.3_Missense_Mutation_p.P87H|EPN2_uc010vyo.1_Missense_Mutation_p.P80H|EPN2_uc002gvg.1_Missense_Mutation_p.P315H|EPN2_uc010vyp.1_Missense_Mutation_p.P308H|EPN2_uc010vyq.1_Missense_Mutation_p.P309H|EPN2_uc002gvh.1_Missense_Mutation_p.P372H|EPN2_uc002gvj.3_Missense_Mutation_p.P35H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	372	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCGGCTCCTGCGAGTACT	0.657		NaN											1	0	2.0701e-58	0.048971	2.21903e-58	141	277				
RNF112	7732	broad.mit.edu	37	17	19319463	19319463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19319463G>A	uc010vyw.1	+	14	2070	c.1871G>A	c.(1870-1872)CGA>CAA	p.R624Q	RNF112_uc010vyv.1_Missense_Mutation_p.R625Q	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	624							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GAAGGGGACCGAGAGCCCCTT	0.627		NaN											0	0	0	0.069234	0	10	25				
UBTF	7343	broad.mit.edu	37	17	42289089	42289089	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:42289089T>G	uc002igb.2	-	9	999	c.932A>C	c.(931-933)GAG>GCG	p.E311A	UBTF_uc002igc.2_Missense_Mutation_p.E274A|UBTF_uc010czs.2_Missense_Mutation_p.E311A|UBTF_uc002igd.2_Missense_Mutation_p.E274A|UBTF_uc010czt.2_Missense_Mutation_p.E311A|UBTF_uc002ige.2_Missense_Mutation_p.E274A	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	311	HMG box 3.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCCATGAGCTCTGCGCAGTA	0.617		NaN											0	0	0	0.080935	0	12	51				
KIAA1267	284058	broad.mit.edu	37	17	44109507	44109507	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:44109507G>C	uc002ikb.2	-	13	3081	c.2996C>G	c.(2995-2997)TCA>TGA	p.S999*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S999*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S999*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S998*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.S330*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.S267*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	999						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGGGGTGCTGAGTGCAGTTC	0.602		NaN											0	0	0	0.069234	0	11	55				
COL1A1	1277	broad.mit.edu	37	17	48275121	48275121	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:48275121G>C	uc002iqm.2	-	9	794	c.668C>G	c.(667-669)CCA>CGA	p.P223R		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	223	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	AGGGGGACCTGGGGGACCTCG	0.507		NaN	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						0	0	0	0.086207	0	36	126				
PDE6G	5148	broad.mit.edu	37	17	79620333	79620333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:79620333C>T	uc002kay.3	-	2	147	c.3G>A	c.(1-3)ATG>ATA	p.M1I	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	phosphodiesterase 6G	1					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity				0	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTTCCAGGTTCATGGTGAGGC	0.662		NaN											0	0	0	0.0918	0	26	32				
POLI	11201	broad.mit.edu	37	18	51818253	51818253	+	Nonsense_Mutation	SNP	C	C	T	rs56152401		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:51818253C>T	uc002lfj.3	+	9	1317	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	POLI_uc010xds.1_Nonsense_Mutation_p.R338*|POLI_uc002lfk.3_Nonsense_Mutation_p.R314*|POLI_uc010dpg.2_Nonsense_Mutation_p.R13*	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	417					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GAAACTTTTTCGAAATATGGT	0.308		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.069234	0	10	41				
ZNF516	9658	broad.mit.edu	37	18	74091604	74091604	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:74091604G>A	uc010dqx.1	-	3	2701	c.2466C>T	c.(2464-2466)CTC>CTT	p.L822L	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTTGCCACCGAGGGCAGGCG	0.622		NaN											0	0	0	0.041601	0	31	72				
ELAVL1	1994	broad.mit.edu	37	19	8046039	8046039	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:8046039G>A	uc002mjb.2	-	3	371	c.204C>T	c.(202-204)TAC>TAT	p.Y68Y		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	68	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TCGCGGTCACGTAGTTCACAA	0.532		NaN											0	0	0	0.020292	0	14	46				
LPAR2	9170	broad.mit.edu	37	19	19737749	19737749	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:19737749G>A	uc002nnb.3	-	2	484	c.345C>T	c.(343-345)CTC>CTT	p.L115L	LPAR2_uc002nna.3_Silent_p.L115L|LPAR2_uc002nnc.3_Silent_p.L115L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	115	Helical; Name=3; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						CCGACGCAGTGAGGCTTGTGT	0.672		NaN											0	0	0	0.021553	0	6	6				
ZNF573	126231	broad.mit.edu	37	19	38229523	38229523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:38229523G>C	uc002ohe.2	-	4	1890	c.1868C>G	c.(1867-1869)TCA>TGA	p.S623*	ZNF573_uc010efs.2_Nonsense_Mutation_p.S536*|ZNF573_uc002ohd.2_Nonsense_Mutation_p.S621*|ZNF573_uc002ohf.2_Nonsense_Mutation_p.S565*|ZNF573_uc002ohg.2_Nonsense_Mutation_p.S535*	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	603	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AACAAGGTTTGAAGCACGACT	0.413		NaN											0	0	0	0.042209	0	46	77				
TRPM4	54795	broad.mit.edu	37	19	49713574	49713574	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:49713574C>T	uc002pmw.2	+	21	3312	c.3240C>T	c.(3238-3240)ATC>ATT	p.I1080I	TRPM4_uc010emu.2_Silent_p.I935I|TRPM4_uc010yak.1_Silent_p.I544I|TRPM4_uc002pmx.2_Silent_p.I906I|TRPM4_uc010emv.2_Silent_p.I965I|TRPM4_uc010yal.1_Silent_p.I726I|TRPM4_uc002pmy.2_Silent_p.I422I	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1080	Cytoplasmic (Potential).|Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGCCCTTTATCGTCATCTCCC	0.637		NaN											0	0	0	0.062417	0	20	30				
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:54967251T>G	uc002qfv.1	+	8	1164	c.1020T>G	c.(1018-1020)GGT>GGG	p.G340G	LENG8_uc002qfw.2_Silent_p.G377G			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	340							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687		NaN											0	0	0	0.058154	0	6	24				
KIR3DL1	3811	broad.mit.edu	37	19	55329821	55329821	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:55329821G>A	uc002qhk.3	+	3	185	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R41Q	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	41	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GTGGTGCCTCGAGGAGGACAC	0.542		NaN											0	0	0	0.09836	0	37	54				
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:56466176C>T	uc002qmh.2	+	3	823	c.752C>T	c.(751-753)ACG>ATG	p.T251M	NLRP8_uc010etg.2_Missense_Mutation_p.T251M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512		NaN											0	0	0	0.080422	0	38	75				
GGCX	2677	broad.mit.edu	37	2	85785670	85785670	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:85785670C>T	uc002sps.2	-	4	538	c.432G>A	c.(430-432)CTG>CTA	p.L144L	GGCX_uc010yss.1_Silent_p.L16L|GGCX_uc010yst.1_Silent_p.L87L	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	144	Helical; (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ACCAGTATGGCAGCAGGAATA	0.493		NaN											0	0	0	0.076483	0	24	44				
GPR39	2863	broad.mit.edu	37	2	133174772	133174772	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:133174772C>T	uc002ttl.2	+	1	626	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	53	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CGCCACCATTCGGGTCACCCA	0.537		NaN											0	0	0	0.049695	0	19	32				
LRP1B	53353	broad.mit.edu	37	2	141272335	141272335	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:141272335G>T	uc002tvj.1	-	51	9128	c.8156C>A	c.(8155-8157)TCT>TAT	p.S2719Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2719	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAGAGCAAGAAGAATCTAG	0.284		NaN								TSP Lung(27;0.18)			1	0	7.03913e-09	0.09319	7.33447e-09	13	26				
SP3	6670	broad.mit.edu	37	2	174783487	174783487	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:174783487C>T	uc002uig.2	-	5	1830	c.1666G>A	c.(1666-1668)GAT>AAT	p.D556N	SP3_uc002uie.2_Missense_Mutation_p.D488N|SP3_uc002uif.2_Missense_Mutation_p.D503N|SP3_uc010zel.1_Missense_Mutation_p.D553N	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	556	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTTCAGGATCAGGTTCTTCT	0.403		NaN											0	0	0	0.0333	0	17	39				
TTN	7273	broad.mit.edu	37	2	179638034	179638034	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:179638034C>G	uc010zfg.1	-	33	7881	c.7657G>C	c.(7657-7659)GAG>CAG	p.E2553Q	TTN_uc010zfh.1_Missense_Mutation_p.E2507Q|TTN_uc010zfi.1_Missense_Mutation_p.E2507Q|TTN_uc010zfj.1_Missense_Mutation_p.E2507Q|TTN_uc002unb.2_Missense_Mutation_p.E2553Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCAACCTCAAACACCACA	0.353		NaN											0	0	0	0.049695	0	18	33				
COL5A2	1290	broad.mit.edu	37	2	189953486	189953486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:189953486G>C	uc002uqk.2	-	8	855	c.580C>G	c.(580-582)CAA>GAA	p.Q194E	COL5A2_uc010frx.2_5'Flank	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	194					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGCCATTTGAGCTGAAAAC	0.378		NaN											0	0	0	0.108266	0	25	75				
ANKAR	150709	broad.mit.edu	37	2	190593544	190593544	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:190593544A>G	uc002uqw.1	+	14	2977	c.2977A>G	c.(2977-2979)ATT>GTT	p.I993V	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I160V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1064						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATCCATTTGTATTGGTTTGTA	0.393		NaN											0	0	0	0.037714	0	31	48				
GTF3C3	9330	broad.mit.edu	37	2	197639909	197639909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:197639909G>C	uc002uts.2	-	13	1852	c.1762C>G	c.(1762-1764)CTT>GTT	p.L588V	GTF3C3_uc010zgu.1_Missense_Mutation_p.L559V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	588						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ACTTTAATAAGATAAAGATGC	0.333		NaN											0	0	0	0.024245	0	14	37				
SNRPB2	6629	broad.mit.edu	37	20	16719531	16719531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:16719531C>G	uc002wph.1	+	5	629	c.413C>G	c.(412-414)TCA>TGA	p.S138*	SNRPB2_uc002wpi.1_Nonsense_Mutation_p.S138*	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	138						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						CAAGGAAATTCAACACCAAAT	0.338		NaN											0	0	0	0.069234	0	8	22				
CEP250	11190	broad.mit.edu	37	20	34051427	34051427	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:34051427G>C	uc002xcm.2	+	6	885	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	72					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGGTGCCAAGAGCTGGAGAA	0.547		NaN									OREG0025891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.021553	0	5	25				
BRWD1	54014	broad.mit.edu	37	21	40604198	40604198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr21:40604198G>A	uc002yxk.1	-	25	3044	c.2905C>T	c.(2905-2907)CGA>TGA	p.R969*	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R969*|BRWD1_uc010god.1_5'Flank	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACCCTGTCGAAAATATATT	0.308		NaN											0	0	0	0.02938	0	6	33				
GNAZ	2781	broad.mit.edu	37	22	23465561	23465561	+	Silent	SNP	C	C	T	rs139659965		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr22:23465561C>T	uc002zwu.1	+	3	1548	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	337						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGTTTGTCTTCGACGCGGTGA	0.562		NaN											0	0	0	0.024245	0	13	16				
CCDC36	339834	broad.mit.edu	37	3	49249260	49249260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249260C>A	uc003cwk.2	+	4	434	c.47C>A	c.(46-48)TCA>TAA	p.S16*	CCDC36_uc003cwl.3_Nonsense_Mutation_p.S16*|CCDC36_uc011bck.1_Nonsense_Mutation_p.S16*|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	16										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGTATTCCTTCAGGCTCTGGG	0.239		NaN											1	0	3.7963e-18	0.083992	4.0117e-18	22	63				
CCDC36	339834	broad.mit.edu	37	3	49249266	49249266	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249266C>T	uc003cwk.2	+	4	440	c.53C>T	c.(52-54)TCT>TTT	p.S18F	CCDC36_uc003cwl.3_Missense_Mutation_p.S18F|CCDC36_uc011bck.1_Missense_Mutation_p.S18F|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	18										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTTCAGGCTCTGGGTAAGTT	0.229		NaN											0	0	0	0.069288	0	21	61				
DOCK3	1795	broad.mit.edu	37	3	51393912	51393912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:51393912G>C	uc011bds.1	+	43	4514	c.4491G>C	c.(4489-4491)GAG>GAC	p.E1497D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1497	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGAAGTGGAGAGGAGGGAAC	0.542		NaN											0	0	0	0.028581	0	16	47				
ARHGEF3	50650	broad.mit.edu	37	3	56787589	56787589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:56787589G>C	uc003dig.2	-	4	550	c.381C>G	c.(379-381)ATC>ATG	p.I127M	ARHGEF3_uc011bew.1_Missense_Mutation_p.I127M|ARHGEF3_uc003dih.2_Missense_Mutation_p.I159M|ARHGEF3_uc011bev.1_Missense_Mutation_p.I98M|ARHGEF3_uc003dif.2_Missense_Mutation_p.I133M|ARHGEF3_uc010hmy.1_Translation_Start_Site|ARHGEF3_uc003dii.2_Missense_Mutation_p.I127M	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	127	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAAGCTCAAAGATCGCCTGCA	0.368		NaN											0	0	0	0.041601	0	27	83				
ARL13B	200894	broad.mit.edu	37	3	93761858	93761858	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761858G>C	uc003drc.2	+	7	1085	c.799_splice	c.e7-1	p.N267_splice	ARL13B_uc010hop.2_Splice_Site_p.N118_splice|ARL13B_uc003drd.2_Splice_Site_p.N160_splice|ARL13B_uc003dre.2_Splice_Site_p.N252_splice|ARL13B_uc003drf.2_Splice_Site_p.N267_splice|ARL13B_uc003drg.2_Splice_Site_p.N164_splice	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1								GTP binding				0						TTTTTTGTTAGAATGAAGGAA	0.313		NaN											0	0	0	0.004672	0	2	6				
ARL13B	200894	broad.mit.edu	37	3	93761880	93761880	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761880G>C	uc003drc.2	+	7	1106	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	ARL13B_uc010hop.2_Missense_Mutation_p.E125Q|ARL13B_uc003drd.2_Missense_Mutation_p.E167Q|ARL13B_uc003dre.2_Missense_Mutation_p.E259Q|ARL13B_uc003drf.2_Missense_Mutation_p.E274Q|ARL13B_uc003drg.2_Missense_Mutation_p.E171Q	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	274							GTP binding				0						ACTTGAAAGAGAGAAAAAAAA	0.328		NaN											0	0	0	0.009096	0	4	10				
SGEF	26084	broad.mit.edu	37	3	153840100	153840100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:153840100C>G	uc011bog.1	+	2	530	c.319C>G	c.(319-321)CGA>GGA	p.R107G	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R107G	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	107	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGCCTCTCCTCGACTTCGACG	0.687		NaN											0	0	0	0.021553	0	5	17				
VPS8	23355	broad.mit.edu	37	3	184557485	184557485	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:184557485G>A	uc003fpb.1	+	7	652	c.481_splice	c.e7-1	p.A161_splice	VPS8_uc010hyd.1_Splice_Site_p.A161_splice|VPS8_uc003fpc.1_3'UTR	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTTGTTTTCAGGCAGTATCCA	0.358		NaN											0	0	0	0.038147	0	7	12				
TFRC	7037	broad.mit.edu	37	3	195794923	195794923	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:195794923C>T	uc003fvz.3	-	8	1163	c.880G>A	c.(880-882)GAA>AAA	p.E294K	TFRC_uc003fwa.3_Missense_Mutation_p.E294K|TFRC_uc010hzy.2_Missense_Mutation_p.E213K|TFRC_uc011btr.1_Missense_Mutation_p.E12K	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	294	Extracellular (Potential).|PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AATGAAAGTTCTGCGTTAACA	0.353		NaN	T	BCL6	NHL								0	0	0	0.02938	0	7	33				
HTRA3	94031	broad.mit.edu	37	4	8288305	8288305	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:8288305G>A	uc003gla.2	+	3	707	c.503G>A	c.(502-504)CGC>CAC	p.R168H	HTRA3_uc003gkz.2_Missense_Mutation_p.R168H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	168					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CTGTTTGGCCGCAACGTGCCC	0.657		NaN											0	0	0	0.043863	0	16	64				
METAP1	23173	broad.mit.edu	37	4	99982412	99982412	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:99982412G>C	uc003huf.3	+	11	1222	c.1105G>C	c.(1105-1107)GAA>CAA	p.E369Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	369					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTGGCTGTGAAATCCTAAC	0.512		NaN											0	0	0	0.076483	0	25	59				
TET2	54790	broad.mit.edu	37	4	106156496	106156496	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156496C>G	uc003hxk.2	+	3	1783	c.1397C>G	c.(1396-1398)TCT>TGT	p.S466C	TET2_uc011cez.1_Missense_Mutation_p.S487C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S466C|TET2_uc003hxi.1_Missense_Mutation_p.S466C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	466					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTAATCCATCTACACATGTA	0.458		NaN	Mis N|F		MDS								0	0	0	0.09319	0	13	35				
TET2	54790	broad.mit.edu	37	4	106156625	106156625	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156625C>G	uc003hxk.2	+	3	1912	c.1526C>G	c.(1525-1527)TCA>TGA	p.S509*	TET2_uc011cez.1_Nonsense_Mutation_p.S530*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.S509*|TET2_uc003hxi.1_Nonsense_Mutation_p.S509*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	509					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S509*(3)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGACCAATGTCAGAACACCTC	0.433		NaN	Mis N|F		MDS								0	0	0	0.069234	0	11	37				
RAPGEF2	9693	broad.mit.edu	37	4	160253617	160253617	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:160253617C>T	uc003iqg.3	+	11	1730	c.1420C>T	c.(1420-1422)CTA>TTA	p.L474L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	474					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TAAAGAACTTCTAACAAGATT	0.358		NaN											0	0	0	0.049695	0	18	43				
CPE	1363	broad.mit.edu	37	4	166414359	166414359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:166414359C>T	uc003irg.3	+	7	1427	c.1150C>T	c.(1150-1152)CAA>TAA	p.Q384*		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	384					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAGACCTTCAAGGTAACCC	0.408		NaN									OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.028581	0	13	36				
UFSP2	55325	broad.mit.edu	37	4	186334999	186334999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:186334999G>T	uc003ixo.2	-	7	829	c.712C>A	c.(712-714)CAC>AAC	p.H238N	UFSP2_uc003ixn.2_Missense_Mutation_p.H128N|UFSP2_uc003ixq.2_Missense_Mutation_p.H128N|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	238						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGTCTGTCGTGAGGCAGATTG	0.333		NaN											1	0	1.1804e-14	0.0918	1.23858e-14	26	31				
NIPBL	25836	broad.mit.edu	37	5	36985880	36985880	+	Silent	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:36985880A>G	uc003jkl.3	+	10	3097	c.2598A>G	c.(2596-2598)CTA>CTG	p.L866L	NIPBL_uc003jkk.3_Silent_p.L866L|NIPBL_uc003jkm.1_Silent_p.L745L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	866					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGATAAACTAGAACGAAAAC	0.413		NaN											0	0	0	0.020292	0	14	20				
PCDHA6	56142	broad.mit.edu	37	5	140209470	140209470	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:140209470C>T	uc003lho.2	+	1	1821	c.1794C>T	c.(1792-1794)GAC>GAT	p.D598D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.D598D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTTGACGCCGACTCAG	0.667		NaN											0	0	0	0.009096	0	3	54				
IL17B	27190	broad.mit.edu	37	5	148754143	148754143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:148754143C>T	uc003lqo.2	-	3	382	c.332G>A	c.(331-333)CGT>CAT	p.R111H		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	111					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGGATACGGCTGGGGTC	0.627		NaN											0	0	0	0.021553	0	6	21				
SYNPO	11346	broad.mit.edu	37	5	150028061	150028061	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:150028061C>T	uc003lsn.2	+	3	1330	c.956C>T	c.(955-957)TCG>TTG	p.S319L	SYNPO_uc003lso.3_Missense_Mutation_p.S75L|SYNPO_uc003lsp.2_Missense_Mutation_p.S75L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	319					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCTTGCCTCGCCCAGTGCC	0.607		NaN											0	0	0	0.11126	0	44	93				
KIAA1949	170954	broad.mit.edu	37	6	30653297	30653297	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:30653297G>T	uc003nra.2	-	2	730	c.499C>A	c.(499-501)CTG>ATG	p.L167M	KIAA1949_uc003nrb.3_Missense_Mutation_p.L167M	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	167						cytoplasm|cytoskeleton	actin binding				0						CGAGCCTCCAGAGGCCTCAGG	0.602		NaN											1	0	1.40369e-38	0.048971	1.49392e-38	65	127				
RNF5	6048	broad.mit.edu	37	6	32148014	32148014	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:32148014C>T	uc003oaj.3	+	6	581	c.454C>T	c.(454-456)CTG>TTG	p.L152L	AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	152					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGGTGTGGATCTGGGACAGGG	0.562		NaN											0	0	0	0.048971	0	83	175				
COL19A1	1310	broad.mit.edu	37	6	70875870	70875870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:70875870G>C	uc003pfc.1	+	37	2555	c.2438G>C	c.(2437-2439)GGA>GCA	p.G813A	COL19A1_uc010kam.1_Missense_Mutation_p.G709A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	813	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GGACCACCTGGACCACCTGTG	0.428		NaN											0	0	0	0.004672	0	3	136				
B3GAT2	135152	broad.mit.edu	37	6	71665793	71665793	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:71665793T>C	uc003pfv.2	-	1	996	c.340A>G	c.(340-342)ATC>GTC	p.I114V	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.I114V	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	114	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCCACCAGGATCCAGTGCAGC	0.721		NaN											0	0	0	0.021553	0	5	10				
LAMA2	3908	broad.mit.edu	37	6	129691106	129691106	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:129691106G>A	uc003qbn.2	+	34	5035	c.4930G>A	c.(4930-4932)GTG>ATG	p.V1644M	LAMA2_uc003qbo.2_Missense_Mutation_p.V1644M	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1644	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATACACTCGTGACCGAAAT	0.433		NaN											0	0	0	0.034045	0	29	31				
SYNE1	23345	broad.mit.edu	37	6	152668238	152668238	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:152668238C>T	uc010kiw.2	-	73	12636	c.12034G>A	c.(12034-12036)GGC>AGC	p.G4012S	SYNE1_uc003qot.3_Missense_Mutation_p.G3941S|SYNE1_uc003qou.3_Missense_Mutation_p.G4012S|SYNE1_uc010kja.1_Missense_Mutation_p.G717S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4012	Spectrin 10.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTTTGTGCCCTGCAGATGA	0.493		NaN								HNSCC(10;0.0054)			0	0	0	0.020292	0	12	39				
LPA	4018	broad.mit.edu	37	6	161007642	161007642	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:161007642C>T	uc003qtl.2	-	26	4088	c.3968G>A	c.(3967-3969)TGC>TAC	p.C1323Y		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3831	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCCT	0.483		NaN											0	0	0	0.038395	0	19	47				
CRHR2	1395	broad.mit.edu	37	7	30721547	30721547	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:30721547G>C	uc003tbn.2	-	2	457	c.213C>G	c.(211-213)GTC>GTG	p.V71V	CRHR2_uc010kvw.1_Silent_p.V71V|CRHR2_uc010kvx.1_Silent_p.V71V|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Silent_p.V57V|CRHR2_uc003tbp.2_Silent_p.V98V|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	71	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TGTTGTACTTGACGCCGTTGA	0.647		NaN											0	0	0	0.105934	0	10	17				
MRPS17	51373	broad.mit.edu	37	7	56022649	56022649	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:56022649G>A	uc003trd.2	+	3	201	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	MRPS17_uc003trb.2_Silent_p.Q152Q	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17 precursor	57					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCTTCAGCAGTGCACAGTTG	0.443		NaN											0	0	0	0.048971	0	88	212				
TBXAS1	6916	broad.mit.edu	37	7	139636073	139636073	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:139636073G>A	uc011kqv.1	+	5	584	c.420G>A	c.(418-420)CTG>CTA	p.L140L	TBXAS1_uc003vvh.2_Silent_p.L140L|TBXAS1_uc010lne.2_Silent_p.L72L|TBXAS1_uc011kqu.1_Silent_p.L91L|TBXAS1_uc003vvi.2_Silent_p.L140L|TBXAS1_uc003vvj.2_Silent_p.L140L|TBXAS1_uc011kqw.1_Silent_p.L120L	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	139	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GAGGTGCCCTGATGTCTGCTT	0.473		NaN											0	0	0	0.048971	0	65	134				
ZNF777	27153	broad.mit.edu	37	7	149129112	149129112	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:149129112C>T	uc003wfv.2	-	6	2414	c.2251G>A	c.(2251-2253)GCC>ACC	p.A751T		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGGGGCAGGCGTGCGGCCGC	0.682		NaN											0	0	0	0.030593	0	28	44				
CSMD1	64478	broad.mit.edu	37	8	3326258	3326258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr8:3326258G>A	uc011kwk.1	-	12	1930	c.1540C>T	c.(1540-1542)CCT>TCT	p.P514S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	514	CUB 3.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAAACCCAGGTGAGCCAATG	0.478		NaN											0	0	0	0.02938	0	7	9				
FAM120A	23196	broad.mit.edu	37	9	96320268	96320268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:96320268C>T	uc004atw.2	+	14	2669	c.2644C>T	c.(2644-2646)CAG>TAG	p.Q882*	FAM120A_uc004aty.2_Nonsense_Mutation_p.Q663*|FAM120A_uc004atz.2_Nonsense_Mutation_p.Q531*|FAM120A_uc010mrg.2_Nonsense_Mutation_p.Q195*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	882	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						CCCACCCTCTCAGGGCAGGGG	0.602		NaN											0	0	0	0.069234	0	10	3				
KIAA0368	23392	broad.mit.edu	37	9	114152334	114152334	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:114152334A>C	uc004bfe.1	-	31	3743	c.3743T>G	c.(3742-3744)CTT>CGT	p.L1248R		NM_001080398	NP_001073867			KIAA0368 protein												0						TGGCTGGCTAAGATCACTTGC	0.398		NaN											0	0	0	0.02938	0	6	6				
USP20	10868	broad.mit.edu	37	9	132614875	132614875	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:132614875T>G	uc004bys.2	+	3	252	c.41T>G	c.(40-42)ATA>AGA	p.I14R	USP20_uc004byr.2_Missense_Mutation_p.I14R|USP20_uc004byt.1_Missense_Mutation_p.I14R	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	14					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CTTGACTCCATAGGAGAGGTG	0.577		NaN											0	0	0	0.004672	0	2	4				
IL2RG	3561	broad.mit.edu	37	X	70331308	70331308	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:70331308G>C	uc004dyw.1	-	1	96	c.82C>G	c.(82-84)CTG>GTG	p.L28V	IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	28	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TTGGGCGTCAGAATTGTCGTG	0.562		NaN							Severe_Combined_Immunodeficiency_X-linked				0	0	0	0.09319	0	12	9				
WBP5	51186	broad.mit.edu	37	X	102612724	102612724	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:102612724G>A	uc004ekd.2	+	3	413	c.112G>A	c.(112-114)GAG>AAG	p.E38K	WBP5_uc004eke.2_Missense_Mutation_p.E38K|WBP5_uc004ekf.2_Missense_Mutation_p.E38K|WBP5_uc004ekg.2_Missense_Mutation_p.E38K	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	38	Glu-rich.										0						GCTAGAGGAGGAGGCCAAAGC	0.408		NaN											0	0	0	0.055883	0	21	13				
SRPK3	26576	broad.mit.edu	37	X	153049816	153049816	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:153049816C>T	uc004fil.2	+	11	1247	c.1215C>T	c.(1213-1215)ATC>ATT	p.I405I	SRPK3_uc004fik.2_Silent_p.I471I|SRPK3_uc010nul.2_Silent_p.I329I|SRPK3_uc004fin.2_Silent_p.I404I|SRPK3_uc004fim.2_Silent_p.I371I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	405	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAAGATCAAGATCGCAG	0.607		NaN											0	0	0	0.038147	0	8	6				
UBE4B	10277	broad.mit.edu	37	1	10186932	10186932	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:10186932C>G	uc001aqs.3	+	11	2348	c.1635C>G	c.(1633-1635)CTC>CTG	p.L545L	UBE4B_uc001aqr.3_Silent_p.L416L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	545					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AATACCCCCTCATGGTAAAAC	0.343		NaN											0	0	0	0.013537	0	12	48				
MTOR	2475	broad.mit.edu	37	1	11297958	11297958	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:11297958C>T	uc001asd.2	-	13	2271	c.2150G>A	c.(2149-2151)CGA>CAA	p.R717Q		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	717					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GCTACTGAGTCGGCCCACAGT	0.582		NaN											0	0	0	0.005443	0	25	57				
VPS13D	55187	broad.mit.edu	37	1	12317111	12317111	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:12317111G>A	uc001atv.2	+	9	1049	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	VPS13D_uc001atw.2_Missense_Mutation_p.R303Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	303					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGAAGTTCCGAAGGTGGAAA	0.443		NaN											0	0	0	0.004672	0	3	67				
TMEM50A	23585	broad.mit.edu	37	1	25678163	25678163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:25678163G>A	uc001bke.2	+	4	403	c.253G>A	c.(253-255)GAA>AAA	p.E85K	TMEM50A_uc010oeq.1_Missense_Mutation_p.E85K|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	NM_014313	NP_055128	O95807	TM50A_HUMAN	small membrane protein 1	85						endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TAGTTACAGTGAAGGTTGTCT	0.368		NaN											0	0	0	0.001855	0	13	40				
MAN1C1	57134	broad.mit.edu	37	1	26104650	26104650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26104650G>A	uc001bkm.2	+	9	1642	c.1312G>A	c.(1312-1314)GAG>AAG	p.E438K	MAN1C1_uc009vry.1_Missense_Mutation_p.E258K|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	438	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTACATTGCCGAGTGGCGAGG	0.627		NaN											0	0	0	0.001168	0	4	62				
TRIM63	84676	broad.mit.edu	37	1	26387813	26387813	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26387813C>T	uc001bli.1	-	3	481	c.345G>A	c.(343-345)CAG>CAA	p.Q115Q		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	115	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGCCCTTCTGCAGCGGCC	0.527		NaN											0	0	0	0.009096	0	3	66				
ARID1A	8289	broad.mit.edu	37	1	27056160	27056160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:27056160C>T	uc001bmv.1	+	2	1529	c.1156C>T	c.(1156-1158)CAG>TAG	p.Q386*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q3*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	386					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAATGGATCAGATGGGCAA	0.498		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.008361	0	27	91		Valid		
PUM1	9698	broad.mit.edu	37	1	31437555	31437555	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:31437555G>A	uc001bsi.1	-	14	2402	c.2289C>T	c.(2287-2289)CTC>CTT	p.L763L	PUM1_uc001bsf.1_Silent_p.L429L|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.L763L|PUM1_uc001bsj.1_Silent_p.L737L|PUM1_uc010oga.1_Silent_p.L619L|PUM1_uc001bsk.1_Silent_p.L799L|PUM1_uc010ogb.1_Silent_p.L704L	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	763	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CATGTGAAGAGAGGGAAGGAG	0.493		NaN											0	0	0	0.009535	0	29	176				
RLF	6018	broad.mit.edu	37	1	40701823	40701823	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:40701823A>G	uc001cfc.3	+	8	1480	c.1449A>G	c.(1447-1449)TTA>TTG	p.L483L	RLF_uc001cfd.3_Silent_p.L174L	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	483					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACCAACTTTTAGGACAAGAAG	0.403		NaN											0	0	0	0.009096	0	3	128				
IL12RB2	3595	broad.mit.edu	37	1	67792462	67792462	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:67792462G>A	uc001ddu.2	+	4	1049	c.409G>A	c.(409-411)GAA>AAA	p.E137K	IL12RB2_uc010oqi.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqj.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqm.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	137	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						ACAGAAGGGAGAACAGGGGAC	0.428		NaN											0	0	0	0.008291	0	10	67				
TTLL7	79739	broad.mit.edu	37	1	84403570	84403570	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:84403570G>C	uc001djc.2	-	8	1249	c.853C>G	c.(853-855)CAA>GAA	p.Q285E	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	285	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACATCATGTTGATTTGCTTGA	0.373		NaN											0	0	0	0.00308	0	8	100				
LMO4	8543	broad.mit.edu	37	1	87797721	87797721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:87797721C>T	uc001dmi.2	+	2	803	c.23C>T	c.(22-24)TCG>TTG	p.S8L	LMO4_uc001dmj.2_Missense_Mutation_p.S8L	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	8					neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGCAGCAGCTCGCAGCCGCCC	0.637		NaN											0	0	0	0.00308	0	6	53				
PKN2	5586	broad.mit.edu	37	1	89290038	89290038	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:89290038G>A	uc001dmn.2	+	18	2730	c.2388G>A	c.(2386-2388)GTG>GTA	p.V796V	PKN2_uc010osp.1_Silent_p.V780V|PKN2_uc010osq.1_Silent_p.V639V|PKN2_uc009wcv.2_Silent_p.V748V|PKN2_uc010osr.1_Silent_p.V461V	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	796	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGGCTTTGTGAAAATTGCTG	0.308		NaN											0	0	0	0.004482	0	8	54				
ARHGAP29	9411	broad.mit.edu	37	1	94639451	94639451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:94639451C>T	uc001dqj.3	-	23	4129	c.3760G>A	c.(3760-3762)GAA>AAA	p.E1254K	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	1254					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCACCTTCGAGGTCTTCA	0.398		NaN											0	0	0	0.001855	0	13	106				
S1PR1	1901	broad.mit.edu	37	1	101705115	101705115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:101705115C>G	uc001dud.2	+	2	1089	c.575C>G	c.(574-576)TCC>TGC	p.S192C	S1PR1_uc009weg.2_Missense_Mutation_p.S192C	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	192	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TCCAGCTGCTCCACCGTGCTG	0.567		NaN									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003271	0	36	76				
KCNC4	3749	broad.mit.edu	37	1	110765682	110765682	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:110765682G>C	uc001dzh.2	+	2	832	c.775G>C	c.(775-777)GAG>CAG	p.E259Q	KCNC4_uc001dzf.2_Missense_Mutation_p.E259Q|KCNC4_uc009wfr.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzg.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	259					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACGTGACAGAGATCCTCCG	0.552		NaN											0	0	0	0.010504	0	21	129				
PDE4DIP	9659	broad.mit.edu	37	1	144864265	144864265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:144864265G>C	uc001elw.3	-	36	6121	c.5830C>G	c.(5830-5832)CAA>GAA	p.Q1944E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1838E|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q951E|PDE4DIP_uc001ema.2_Missense_Mutation_p.Q131E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1944	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCAGCTCTTGAAGGTGGGAT	0.527		NaN	T	PDGFRB	MPD								0	0	0	0.001855	0	12	303				
LINGO4	339398	broad.mit.edu	37	1	151773402	151773402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151773402G>C	uc001ezf.1	-	2	1969	c.1779C>G	c.(1777-1779)TTC>TTG	p.F593L		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	593	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAAGGTCAGAAGAGCTTGG	0.547		NaN											0	0	0	0.004007	0	17	59				
LINGO4	339398	broad.mit.edu	37	1	151774212	151774212	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151774212C>T	uc001ezf.1	-	2	1159	c.969G>A	c.(967-969)TTG>TTA	p.L323L		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	323	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAGGCAGTCAAGCCATGGA	0.597		NaN											0	0	0	0.013537	0	13	71				
LCE3A	353142	broad.mit.edu	37	1	152595518	152595518	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:152595518G>T	uc010pdt.1	-	1	62	c.62C>A	c.(61-63)CCA>CAA	p.P21Q		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	21					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGTGCTGGGCTCTTTGC	0.632		NaN											1	0	4.4004e-07	0.00333	4.70313e-07	22	47				
S100A9	6280	broad.mit.edu	37	1	153333180	153333180	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153333180G>A	uc001fbq.2	+	3	254	c.211G>A	c.(211-213)GAC>AAC	p.D71N		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	71	2; high affinity (Probable).|EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAATGCAGACAAGCAGCT	0.562		NaN											0	0	0	0.005524	0	37	53				
INTS3	65123	broad.mit.edu	37	1	153723691	153723691	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153723691C>T	uc009wom.2	+	8	926	c.705C>T	c.(703-705)TTC>TTT	p.F235F	INTS3_uc001fct.2_Silent_p.F235F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Silent_p.F29F|INTS3_uc010peb.1_Silent_p.F29F|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	236					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTAGACTTCTGCATCTCAC	0.542		NaN											0	0	0	0.001984	0	7	72				
NES	10763	broad.mit.edu	37	1	156640874	156640874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156640874C>T	uc001fpq.2	-	4	3239	c.3106G>A	c.(3106-3108)GAG>AAG	p.E1036K		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1036	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGCCCTCAGCCCCTCCC	0.667		NaN											0	0	0	0.010504	0	18	165				
C1orf92	149499	broad.mit.edu	37	1	156897392	156897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156897392C>T	uc001fqm.2	+	7	939	c.767C>T	c.(766-768)TCG>TTG	p.S256L	C1orf92_uc001fql.2_Missense_Mutation_p.S41L	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	256	LRR 4.										0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCCTCGTCTCGCTCAACCTG	0.662		NaN									OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	11	9				
CRP	1401	broad.mit.edu	37	1	159684367	159684367	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:159684367G>C	uc001ftw.2	-	1	13	c.-91C>G	c.(-93--89)ATCTA>ATGTA		CRP_uc001ftx.1_Translation_Start_Site|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor						acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAAGTCCTAGATCTCTTGCC	0.458		NaN											0	0	0	0.004672	0	3	12				
FCRLB	127943	broad.mit.edu	37	1	161697035	161697035	+	Splice_Site	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:161697035A>T	uc001gbh.2	+	8	1100	c.866_splice	c.e8-2	p.G289_splice	FCRLB_uc009wus.2_Splice_Site_p.G289_splice|FCRLB_uc001gbj.2_Splice_Site_p.V241_splice|FCRLB_uc001gbk.2_Splice_Site_p.G254_splice|FCRLB_uc001gbl.2_Splice_Site_p.V234_splice|FCRLB_uc001gbm.2_Splice_Site_p.G247_splice|FCRLB_uc001gbi.2_Splice_Site_p.G289_splice|FCRLB_uc001gbn.3_Splice_Site_p.G291_splice	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B							endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCATTCACAGGTTCTCCCC	0.507		NaN											0	0	0	0.009096	0	3	17				
CFH	3075	broad.mit.edu	37	1	196694341	196694341	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:196694341C>A	uc001gtj.3	+	12	2027	c.1787C>A	c.(1786-1788)TCC>TAC	p.S596Y		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	596	Sushi 10.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTGAAATTCTCCTGCAAACCA	0.393		NaN											1	0	0.00307968	0.00308	0.00320493	7	41				
CRB1	23418	broad.mit.edu	37	1	197411332	197411332	+	Silent	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:197411332G>T	uc001gtz.2	+	11	4050	c.3915G>T	c.(3913-3915)CCG>CCT	p.P1305P	CRB1_uc010poz.1_Silent_p.P1281P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P1193P|CRB1_uc010ppb.1_Silent_p.P769P|CRB1_uc010ppd.1_Silent_p.P786P|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1305	Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.P1305A(1)		ovary(5)|skin(3)|large_intestine(1)	9						CCTCTGATCCGTGTGTCAATG	0.493		NaN											1	0	1.96642e-18	0.006999	2.14384e-18	41	164				
PTPRC	5788	broad.mit.edu	37	1	198711037	198711037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:198711037C>T	uc001gur.1	+	24	2617	c.2437C>T	c.(2437-2439)CAG>TAG	p.Q813*	PTPRC_uc001gus.1_Nonsense_Mutation_p.Q765*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q652*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GACTCACATTCAGTTCACCAG	0.413		NaN											0	0	0	0.004672	0	3	32				
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437671C>T	uc001gwq.2	-	1	629	c.244G>A	c.(244-246)GAG>AAG	p.E82K	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						AAGTCGATCTCGCCGCCCCCT	0.652		NaN											0	0	0	0.006122	0	16	70				
PHLDA3	23612	broad.mit.edu	37	1	201437831	201437831	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437831C>T	uc001gwq.2	-	1	469	c.84G>A	c.(82-84)CGG>CGA	p.R28R	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	28	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						CGCAGCGCTTCCGCTTCCACA	0.721		NaN											0	0	0	0.001168	0	6	21				
LMOD1	25802	broad.mit.edu	37	1	201915321	201915321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201915321G>A	uc001gxb.2	-	1	396	c.148C>T	c.(148-150)CGG>TGG	p.R50W	LMOD1_uc010ppu.1_Missense_Mutation_p.R50W	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	50					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						TTTCTCTGCCGCAGCCCCACG	0.587		NaN											0	0	0	0.013537	0	13	54				
SLC45A3	85414	broad.mit.edu	37	1	205632625	205632625	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:205632625C>T	uc001hda.1	-	3	633	c.294G>A	c.(292-294)CTG>CTA	p.L98L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	98	Helical; Name=3; (Potential).				transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677		NaN	T	ETV1|ETV5|ELK4|ERG	prostate 								0	0	0	0.001984	0	6	30				
IKBKE	9641	broad.mit.edu	37	1	206653236	206653236	+	Missense_Mutation	SNP	G	G	A	rs143491598		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:206653236G>A	uc001hdz.1	+	11	1575	c.1207G>A	c.(1207-1209)GTC>ATC	p.V403I	IKBKE_uc009xbv.1_Missense_Mutation_p.V403I|IKBKE_uc001hea.1_Missense_Mutation_p.V318I	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	403					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CCCCAAGTTCGTCCCCAAAGT	0.592		NaN									OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	46				
PFKFB2	5208	broad.mit.edu	37	1	207242832	207242832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:207242832C>T	uc001hfg.2	+	11	1160	c.1051C>T	c.(1051-1053)CGA>TGA	p.R351*	PFKFB2_uc010psc.1_Nonsense_Mutation_p.R253*|PFKFB2_uc001hfh.2_Nonsense_Mutation_p.R351*|PFKFB2_uc009xcc.2_Nonsense_Mutation_p.R309*|PFKFB2_uc010psd.1_Nonsense_Mutation_p.R165*	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					GTTTGCACTTCGAGATCAAGA	0.463		NaN											0	0	0	0.001168	0	6	79				
CENPF	1063	broad.mit.edu	37	1	214814564	214814564	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:214814564C>T	uc001hkm.2	+	12	3057	c.2883C>T	c.(2881-2883)ATC>ATT	p.I961I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	961	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTTCCATCATTTCTCTAA	0.353		NaN											0	0	0	0.003163	0	14	63				
SMYD3	64754	broad.mit.edu	37	1	246021899	246021899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246021899G>C	uc001ibl.2	-	10	1070	c.975C>G	c.(973-975)ATC>ATG	p.I325M	SMYD3_uc001ibk.2_Missense_Mutation_p.I266M|SMYD3_uc001ibi.2_Missense_Mutation_p.I136M|SMYD3_uc001ibj.2_Missense_Mutation_p.I136M	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	325						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCAGCTGGTAGATGTTGATAT	0.507		NaN											0	0	0	0.009096	0	4	61				
CNST	163882	broad.mit.edu	37	1	246797846	246797846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246797846G>A	uc001ibp.2	+	6	1153	c.775G>A	c.(775-777)GAA>AAA	p.E259K	CNST_uc001ibo.3_Missense_Mutation_p.E259K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	259					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ATTTAATGGTGAAGATTTTGA	0.333		NaN											0	0	0	0.001168	0	6	52				
ZNF496	84838	broad.mit.edu	37	1	247464049	247464049	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:247464049C>T	uc001ico.2	-	9	2001	c.1536G>A	c.(1534-1536)CCG>CCA	p.P512P	ZNF496_uc009xgv.2_Silent_p.P548P|ZNF496_uc001icp.2_Silent_p.P512P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	512					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTTTTCCAGCGGCTCTTTGG	0.642		NaN											0	0	0	0.009096	0	4	110				
OR2L8	391190	broad.mit.edu	37	1	248112934	248112934	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248112934C>G	uc001idt.1	+	1	775	c.775C>G	c.(775-777)CTA>GTA	p.L259V	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTACACTTATCTACGTCCAAG	0.483		NaN											0	0	0	0.010818	0	25	73				
OR2L3	391192	broad.mit.edu	37	1	248224758	248224758	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248224758C>G	uc001idx.1	+	1	775	c.775C>G	c.(775-777)CTA>GTA	p.L259V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTACACTTATCTACGTCCAAG	0.493		NaN											0	0	0	0.004672	0	3	122				
ASB13	79754	broad.mit.edu	37	10	5691004	5691004	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:5691004T>C	uc001iig.2	-	4	490	c.446A>G	c.(445-447)CAT>CGT	p.H149R	ASB13_uc001iii.2_RNA|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.H149R	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	149	ANK 5.				intracellular signal transduction		protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(2;9.59e-09)		GGTCCCAAAATGGCAATCGTG	0.542		NaN											0	0	0	0.003271	0	34	118				
BMI1	648	broad.mit.edu	37	10	22616526	22616526	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:22616526C>G	uc001irh.2	+	4	851	c.212C>G	c.(211-213)TCA>TGA	p.S71*	BMI1_uc009xkg.2_Nonsense_Mutation_p.S214*	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	71					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TTTTTCAGGTCAGATAAAACT	0.264		NaN											0	0	0	0.001855	0	13	121				
NRP1	8829	broad.mit.edu	37	10	33619671	33619671	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:33619671G>C	uc001iwx.3	-	2	736	c.213C>G	c.(211-213)TTC>TTG	p.F71L	NRP1_uc001iwv.3_Missense_Mutation_p.F71L|NRP1_uc009xlz.2_Missense_Mutation_p.F71L|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.F71L|NRP1_uc001iwz.2_Missense_Mutation_p.F71L|NRP1_uc001ixa.2_Missense_Mutation_p.F71L|NRP1_uc001ixb.1_Missense_Mutation_p.F71L|NRP1_uc001ixc.1_Missense_Mutation_p.F71L	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	71	CUB 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTGAGGGTTGAAGTTGATCA	0.478		NaN											0	0	0	0.006214	0	10	44				
SYT15	83849	broad.mit.edu	37	10	46967671	46967671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:46967671C>T	uc001jea.2	-	4	559	c.406G>A	c.(406-408)GAG>AAG	p.E136K	SYT15_uc001jdz.2_Missense_Mutation_p.E136K|SYT15_uc001jeb.2_Missense_Mutation_p.E14K|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	136	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CTTTTGTCCTCCGGGAACTTG	0.617		NaN											0	0	0	0.00245	0	13	132				
PCDH15	65217	broad.mit.edu	37	10	55581860	55581860	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:55581860G>C	uc001jju.1	-	33	6021	c.5626C>G	c.(5626-5628)CAG>GAG	p.Q1876E	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTTCTCTCTGAGGGTCTGTT	0.388		NaN								HNSCC(58;0.16)			0	0	0	0.01441	0	58	67				
ZWINT	11130	broad.mit.edu	37	10	58118398	58118398	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:58118398A>T	uc001jjx.1	-	7	748	c.711T>A	c.(709-711)GAT>GAA	p.D237E	ZWINT_uc001jjy.1_Missense_Mutation_p.D190E|ZWINT_uc001jka.1_Missense_Mutation_p.D237E|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	237					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						GGGGTTTATCATCTGGAAGAT	0.532		NaN											0	0	0	0.006122	0	18	27				
NUDT13	25961	broad.mit.edu	37	10	74879774	74879774	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:74879774A>C	uc001jtj.2	+	3	209	c.84_splice	c.e3-2	p.R28_splice	NUDT13_uc010qkc.1_Splice_Site|NUDT13_uc010qkd.1_Splice_Site|NUDT13_uc009xqw.2_Splice_Site|NUDT13_uc001jtk.2_Splice_Site_p.R28_splice|NUDT13_uc010qke.1_Splice_Site|NUDT13_uc001jtl.2_Splice_Site_p.R28_splice	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13								hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					TCCCAAATACAGGTATTTATT	0.408		NaN											0	0	0	0.000602	0	5	41				
CYP26A1	1592	broad.mit.edu	37	10	94834560	94834560	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:94834560G>A	uc001kil.2	+	3	484	c.439G>A	c.(439-441)GAG>AAG	p.E147K	CYP26A1_uc001kik.1_Missense_Mutation_p.E78K|CYP26A1_uc001kim.1_Missense_Mutation_p.E45K	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	147					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CTTCAGCCGCGAGGCACTCGA	0.657		NaN											0	0	0	0.010729	0	10	16				
EIF3A	8661	broad.mit.edu	37	10	120795652	120795652	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:120795652C>T	uc001ldu.2	-	22	4194	c.4048G>A	c.(4048-4050)GAA>AAA	p.E1350K	EIF3A_uc010qsu.1_Missense_Mutation_p.E1316K	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1350					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCTCTTTTTCACCTTCTCTT	0.507		NaN											0	0	0	0.00499	0	17	45				
TUBGCP2	10844	broad.mit.edu	37	10	135098627	135098627	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:135098627G>A	uc001lmg.1	-	13	2343	c.1986C>T	c.(1984-1986)AAC>AAT	p.N662N	TUBGCP2_uc001lmf.1_Silent_p.N255N|TUBGCP2_uc010qvc.1_Silent_p.N690N|TUBGCP2_uc009ybk.1_Silent_p.N685N|TUBGCP2_uc010qvd.1_Silent_p.N532N|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	662					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGGCGGTTTTGTTGCTGATCC	0.607		NaN											0	0	0	0.004482	0	9	52				
ANO9	338440	broad.mit.edu	37	11	431718	431718	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:431718C>T	uc001lpi.2	-	7	600	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.R28Q	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	172	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGGCTGCTCCCGGAACATGTG	0.667		NaN											0	0	0	0.000602	0	5	17				
MOB2	81532	broad.mit.edu	37	11	1491480	1491480	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:1491480G>A	uc010qwz.1	-	5	919	c.729C>T	c.(727-729)GGC>GGT	p.G243G	MOB2_uc001lto.1_Silent_p.G127G|MOB2_uc001ltp.1_Missense_Mutation_p.R6W|MOB2_uc001ltq.1_Silent_p.G206G|MOB2_uc010qwy.1_Silent_p.G127G	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	212						nucleus|perinuclear region of cytoplasm	metal ion binding				0						TGTGGACCCCGCCGGCCCCGC	0.682		NaN											0	0	0	0.008291	0	11	32				
OR51F1	256892	broad.mit.edu	37	11	4790533	4790533	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:4790533G>A	uc010qyl.1	-	1	615	c.615C>T	c.(613-615)CTC>CTT	p.L205L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	205						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGTCAGGATGAGATCAATTA	0.413		NaN											0	0	0	0.008291	0	11	42				
FAM160A2	84067	broad.mit.edu	37	11	6232852	6232852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6232852G>C	uc001mcl.3	-	12	3162	c.2803C>G	c.(2803-2805)CTC>GTC	p.L935V	FAM160A2_uc001mck.3_Missense_Mutation_p.L949V	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	935					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AACTCCTTGAGAAATTCAGGG	0.557		NaN											0	0	0	0.014323	0	21	89				
APBB1	322	broad.mit.edu	37	11	6432324	6432324	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6432324C>T	uc001mdb.1	-	2	354	c.254G>A	c.(253-255)CGT>CAT	p.R85H	APBB1_uc001mdc.1_Missense_Mutation_p.R85H|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	85					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTCTGGTCACGGTGGGCCGT	0.652		NaN											0	0	0	0.008361	0	29	135				
OR6A2	8590	broad.mit.edu	37	11	6816130	6816130	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6816130G>C	uc001mes.1	-	1	1010	c.810C>G	c.(808-810)CTC>CTG	p.L270L		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAAAGCTGAGAGTGCCTTTG	0.463		NaN											0	0	0	0.010729	0	12	67				
FANCF	2188	broad.mit.edu	37	11	22647304	22647304	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:22647304G>C	uc001mql.1	-	1	84	c.53C>G	c.(52-54)TCA>TGA	p.S18*		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	18					DNA repair	nucleoplasm	protein binding			skin(1)	1						GGTAGTGCTTGAGACCGCCAG	0.637		NaN	N|F			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.001984	0	6	31				
DDB2	1643	broad.mit.edu	37	11	47236784	47236784	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:47236784G>C	uc001neb.2	+	1	292	c.97G>C	c.(97-99)GAG>CAG	p.E33Q	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.E33Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.E33Q|DDB2_uc001nef.2_5'UTR|DDB2_uc001neg.2_5'Flank|DDB2_uc001neh.2_5'Flank	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	33					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						GCTGGAGCCCGAGGCCAAGAA	0.612		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.004672	0	3	161				
C11orf48	79081	broad.mit.edu	37	11	62435136	62435136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62435136C>G	uc001nue.2	-	4	832	c.397G>C	c.(397-399)GAA>CAA	p.E133Q	C11orf48_uc001nuf.2_Missense_Mutation_p.E133Q|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.E133Q	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	159											0						CAAGCATCTTCTTCATCCTGG	0.537		NaN											0	0	0	0.00245	0	14	315				
ZBTB3	79842	broad.mit.edu	37	11	62521497	62521497	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62521497G>A	uc001nuz.2	-	1	160	c.38C>T	c.(37-39)TCG>TTG	p.S13L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CTTGCCAGGCGATGCCTCTAC	0.597		NaN											0	0	0	0.008291	0	9	56				
SLC22A12	116085	broad.mit.edu	37	11	64359356	64359356	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:64359356G>A	uc001oam.1	+	1	1075	c.328G>A	c.(328-330)GAG>AAG	p.E110K	SLC22A12_uc009ypr.1_Missense_Mutation_p.E110K|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.E110K|SLC22A12_uc001oan.1_Missense_Mutation_p.E110K|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	110					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CAGCTGGAGCGAGGCCGACAC	0.677		NaN											0	0	0	0.001168	0	6	37				
POLA2	23649	broad.mit.edu	37	11	65055264	65055264	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65055264G>A	uc001odj.2	+	11	1426	c.1084G>A	c.(1084-1086)GAC>AAC	p.D362N	POLA2_uc010rod.1_Missense_Mutation_p.D154N|POLA2_uc001odk.2_Missense_Mutation_p.D59N	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	362					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CCCCCTGCTTGACCTGATTGC	0.502		NaN											0	0	0	0.000602	0	5	74				
POLA2	23649	broad.mit.edu	37	11	65063047	65063047	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65063047C>G	uc001odj.2	+	16	1839	c.1497C>G	c.(1495-1497)CTC>CTG	p.L499L	POLA2_uc010rod.1_Silent_p.L291L|POLA2_uc001odk.2_Silent_p.L196L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	499					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	GCCGAATACTCAAGCACATCT	0.498		NaN											0	0	0	0.010729	0	10	130				
FRMD8	83786	broad.mit.edu	37	11	65168229	65168229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65168229C>T	uc001odu.3	+	9	1154	c.962C>T	c.(961-963)TCG>TTG	p.S321L	FRMD8_uc009yqj.2_Missense_Mutation_p.S265L|FRMD8_uc010rof.1_Missense_Mutation_p.S287L	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	321	FERM.					cytoskeleton	binding	p.S321S(1)		lung(1)|pancreas(1)	2						CAGGAGCTGTCGTGGGACCAC	0.647		NaN											0	0	0	0.00308	0	8	44				
RIN1	9610	broad.mit.edu	37	11	66100213	66100213	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:66100213C>T	uc001ohn.1	-	10	2013	c.1886G>A	c.(1885-1887)CGA>CAA	p.R629Q	RIN1_uc010roy.1_Missense_Mutation_p.R260Q|RIN1_uc009yrd.1_Missense_Mutation_p.R322Q|RIN1_uc010roz.1_Missense_Mutation_p.R524Q|RIN1_uc010rpa.1_Missense_Mutation_p.R463Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	629	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						ATAGGCTACTCGGAGGAGGTG	0.592		NaN											0	0	0	0.008291	0	11	84				
INPPL1	3636	broad.mit.edu	37	11	71946359	71946359	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71946359C>G	uc001osf.2	+	23	2670	c.2523C>G	c.(2521-2523)CTC>CTG	p.L841L	INPPL1_uc001osg.2_Silent_p.L599L	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	841					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGGTTGCACTCAAATCCATGA	0.572		NaN											0	0	0	0.008871	0	20	99				
INPPL1	3636	broad.mit.edu	37	11	71949157	71949157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71949157C>G	uc001osf.2	+	27	3771	c.3624C>G	c.(3622-3624)ATC>ATG	p.I1208M	INPPL1_uc001osg.2_Missense_Mutation_p.I966M	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1208	SAM.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGCGGGCCATCGGCTTGGAGC	0.711		NaN									OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	21				
STARD10	10809	broad.mit.edu	37	11	72469670	72469670	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:72469670G>C	uc001osy.2	-	4	655	c.364C>G	c.(364-366)CCC>GCC	p.P122A	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.P122A|STARD10_uc001ota.2_Missense_Mutation_p.P76A|STARD10_uc001otb.2_Missense_Mutation_p.P122A	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	122	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGGGCTTGGGACACCTCCCT	0.582		NaN											0	0	0	0.004672	0	3	19				
C11orf30	56946	broad.mit.edu	37	11	76257114	76257114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:76257114G>A	uc001oxl.2	+	20	3690	c.3547G>A	c.(3547-3549)GAA>AAA	p.E1183K	C11orf30_uc001oxm.2_Missense_Mutation_p.E1085K|C11orf30_uc010rsb.1_Missense_Mutation_p.E1198K|C11orf30_uc010rsc.1_Missense_Mutation_p.E1184K|C11orf30_uc001oxn.2_Missense_Mutation_p.E1184K|C11orf30_uc010rsd.1_Missense_Mutation_p.E1092K|C11orf30_uc010rse.1_Missense_Mutation_p.E430K|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1183					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GCTCACTGGTGAAGCAGGATC	0.478		NaN											0	0	0	0.003163	0	14	46				
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:92523337G>A	uc001pdj.3	+	7	4581	c.4564G>A	c.(4564-4566)GAG>AAG	p.E1522K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1522	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATACTGCCGAGAGGCTGGA	0.498		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.008871	0	21	117				
KIAA1377	57562	broad.mit.edu	37	11	101849120	101849120	+	Missense_Mutation	SNP	G	G	A	rs150274963	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:101849120G>A	uc001pgm.2	+	7	3158	c.2888G>A	c.(2887-2889)CGG>CAG	p.R963Q	KIAA1377_uc001pgn.2_Missense_Mutation_p.R919Q|KIAA1377_uc010run.1_Missense_Mutation_p.R764Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	963							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAACTAAGCGGAGAAATATT	0.333		NaN											0	0	0	0.000602	0	5	180				
CACNA1C	775	broad.mit.edu	37	12	2797760	2797760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:2797760G>A	uc009zdu.1	+	49	6494	c.6181G>A	c.(6181-6183)GAG>AAG	p.E2061K	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1975K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1967K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1984K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2019K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2026K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1998K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1995K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2013K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2006K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1785K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1749K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1714K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1774K|CACNA1C_uc010sea.1_Missense_Mutation_p.E669K|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E296K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2061	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAGGGGGTCGAGTCCAGTGA	0.692		NaN											0	0	0	0.013537	0	13	53				
FGF6	2251	broad.mit.edu	37	12	4553375	4553375	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:4553375C>T	uc001qmr.1	-	2	418	c.374G>A	c.(373-375)CGA>CAA	p.R125Q		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	125					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CACCACGCCTCGCTCCACAGT	0.537		NaN											0	0	0	0.010729	0	9	36				
PZP	5858	broad.mit.edu	37	12	9353646	9353646	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:9353646C>G	uc001qvl.2	-	6	541	c.512G>C	c.(511-513)AGA>ACA	p.R171T	PZP_uc009zgl.2_Missense_Mutation_p.R40T	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AATTCGATTTCTTCTTGGGTT	0.438		NaN											0	0	0	0.003163	0	13	60				
PPFIBP1	8496	broad.mit.edu	37	12	27844717	27844717	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:27844717G>A	uc001ric.1	+	27	3116	c.2739G>A	c.(2737-2739)TTG>TTA	p.L913L	PPFIBP1_uc010sjr.1_Silent_p.L744L|PPFIBP1_uc001rib.1_Silent_p.L907L|PPFIBP1_uc001ria.2_Silent_p.L882L|PPFIBP1_uc001rid.1_Silent_p.L760L|PPFIBP1_uc001rif.1_Silent_p.L420L	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	913					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353		NaN											0	0	0	0.013537	0	12	63				
PDZRN4	29951	broad.mit.edu	37	12	41587902	41587902	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:41587902C>T	uc010skn.1	+	3	226	c.158C>T	c.(157-159)TCG>TTG	p.S53L		NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	252	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGAACATCGACTGAAGGA	0.318		NaN											0	0	0	0.009096	0	4	29				
DAZAP2	9802	broad.mit.edu	37	12	51636147	51636147	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:51636147C>G	uc010snd.1	+	4	519	c.335C>G	c.(334-336)TCA>TGA	p.S112*	DAZAP2_uc001ryb.2_Missense_Mutation_p.Q116E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q56E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q106E|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	Error:Variant_position_missing_in_Q15038_after_alignment							WW domain binding				0						CAATGCTGCTCAGCTTGCAGT	0.537		NaN											0	0	0	0.001984	0	7	333				
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56478817G>C	uc001sjh.2	+	3	466	c.273G>C	c.(271-273)ATG>ATC	p.M91I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	91	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473		NaN											0	0	0	0.012213	0	33	83		Valid		
ESYT1	23344	broad.mit.edu	37	12	56531825	56531825	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56531825C>A	uc001sjq.2	+	20	2264	c.2214C>A	c.(2212-2214)CTC>CTA	p.L738L	ESYT1_uc001sjr.2_Silent_p.L748L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	738				L -> F (in Ref. 2; BAB15139).		integral to membrane				ovary(4)|skin(1)	5						AAGTGCGTCTCACCACAGTCT	0.473		NaN											1	0	2.51541e-25	0.004878	2.76314e-25	36	93				
LRP1	4035	broad.mit.edu	37	12	57556275	57556275	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:57556275G>A	uc001snd.2	+	14	2844	c.2378G>A	c.(2377-2379)CGA>CAA	p.R793Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	793	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R793*(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGAGATCCGAATGTATGAT	0.607		NaN											0	0	0	0.001984	0	7	77				
PTPRB	5787	broad.mit.edu	37	12	70970178	70970178	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:70970178G>A	uc001swb.3	-	9	2202	c.2172C>T	c.(2170-2172)TTC>TTT	p.F724F	PTPRB_uc010sto.1_Silent_p.F724F|PTPRB_uc010stp.1_Silent_p.F634F|PTPRB_uc001swc.3_Silent_p.F942F|PTPRB_uc001swa.3_Intron|PTPRB_uc001swd.3_Silent_p.F941F|PTPRB_uc009zrr.1_Silent_p.F821F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	724	Fibronectin type-III 8.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCTTGGCTGAAGGAGTGAT	0.512		NaN											0	0	0	0.000602	0	4	20				
NAP1L1	4673	broad.mit.edu	37	12	76447602	76447602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:76447602C>G	uc001sxw.2	-	9	1130	c.718G>C	c.(718-720)GAT>CAT	p.D240H	NAP1L1_uc001sxv.2_Missense_Mutation_p.D198H|NAP1L1_uc001sxz.2_Missense_Mutation_p.D171H|NAP1L1_uc001sxx.2_Missense_Mutation_p.D240H|NAP1L1_uc001sxy.2_Missense_Mutation_p.D177H|NAP1L1_uc010sty.1_Missense_Mutation_p.D197H|NAP1L1_uc010stz.1_Missense_Mutation_p.D57H|NAP1L1_uc010sua.1_Missense_Mutation_p.D240H|NAP1L1_uc001syb.2_Missense_Mutation_p.D240H|NAP1L1_uc001sya.2_Missense_Mutation_p.D198H|NAP1L1_uc001syc.2_Missense_Mutation_p.D251H	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	240					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				TCAGAATCATCTGGTTCTGAC	0.348		NaN											0	0	0	0.00499	0	17	33				
NTN4	59277	broad.mit.edu	37	12	96104265	96104265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:96104265G>C	uc001tei.2	-	5	1583	c.1134C>G	c.(1132-1134)TTC>TTG	p.F378L	NTN4_uc009ztf.2_Missense_Mutation_p.F378L|NTN4_uc009ztg.2_Missense_Mutation_p.F341L	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	378	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GGTCACGATAGAAGCCTGGCT	0.483		NaN											0	0	0	0.013537	0	13	52				
UTP20	27340	broad.mit.edu	37	12	101686964	101686964	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:101686964G>A	uc001tia.1	+	11	1348	c.1192G>A	c.(1192-1194)GAA>AAA	p.E398K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	398					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GAGCAGATTTGAAAAACGTTT	0.353		NaN											0	0	0	0.00245	0	15	39				
CCDC53	51019	broad.mit.edu	37	12	102455053	102455053	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:102455053G>A	uc010svw.1	-	2	282	c.123C>T	c.(121-123)CTC>CTT	p.L41L	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Silent_p.L41L	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	41						WASH complex	protein binding				0						AAAAGCGGTTGAGGAACTGTA	0.438		NaN											0	0	0	0.00245	0	11	34				
STAB2	55576	broad.mit.edu	37	12	104071314	104071314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:104071314G>C	uc001tjw.2	+	25	2916	c.2730G>C	c.(2728-2730)GAG>GAC	p.E910D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	910	Extracellular (Potential).|EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ACTGCTCGGAGATCAACAACT	0.572		NaN											0	0	0	0.013726	0	33	89				
MORN3	283385	broad.mit.edu	37	12	122091125	122091125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122091125C>T	uc001uax.2	-	4	675	c.504G>A	c.(502-504)ATG>ATA	p.M168I	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	168	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCGTTCTTCATGCCTCTCT	0.587		NaN											0	0	0	0.006214	0	9	44				
GPR109A	338442	broad.mit.edu	37	12	123187019	123187019	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:123187019G>A	uc001ucx.1	-	1	886	c.812C>T	c.(811-813)TCG>TTG	p.S271L	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	271	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	CAGGTCCACCGAGCGGTACAC	0.542		NaN											0	0	0	0.000602	0	5	52				
RNF17	56163	broad.mit.edu	37	13	25428222	25428222	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:25428222G>C	uc001upr.2	+	25	3591	c.3550G>C	c.(3550-3552)GAG>CAG	p.E1184Q	RNF17_uc010tdd.1_Missense_Mutation_p.E1043Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1180Q|RNF17_uc001ups.2_Missense_Mutation_p.E1123Q|RNF17_uc010aac.2_Missense_Mutation_p.E382Q|RNF17_uc010aad.2_Missense_Mutation_p.E236Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1184					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACGTATTTGAGGCAACAGT	0.393		NaN											0	0	0	0.001984	0	7	38				
RB1	5925	broad.mit.edu	37	13	48881462	48881462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:48881462C>T	uc001vcb.2	+	2	350	c.184C>T	c.(184-186)CAG>TAG	p.Q62*	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	62					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(13)|p.?(3)|p.Q62*(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATTATGTCAGAAATTAAA	0.323		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.001168	0	6	26		Valid		
RNF219	79596	broad.mit.edu	37	13	79219061	79219061	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79219061A>G	uc001vkw.1	-	2	203	c.144T>C	c.(142-144)AAT>AAC	p.N48N	RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.N48N	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	48	RING-type; degenerate.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACTGGCTATTATTCTTCAACC	0.368		NaN											0	0	0	0.008871	0	20	66				
RBM26	64062	broad.mit.edu	37	13	79939829	79939829	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79939829T>C	uc001vkz.2	-	9	1330	c.1316A>G	c.(1315-1317)AAT>AGT	p.N439S	RBM26_uc001vky.2_Missense_Mutation_p.N434S|RBM26_uc001vla.2_Missense_Mutation_p.N434S|RBM26_uc001vkx.2_Missense_Mutation_p.N146S	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	434					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCTTCAGGATTGTAGCCATC	0.353		NaN											0	0	0	0.00308	0	7	62				
KDELC1	79070	broad.mit.edu	37	13	103450976	103450976	+	Silent	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:103450976A>C	uc001vpq.3	-	1	429	c.45T>G	c.(43-45)GTT>GTG	p.V15V	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	15						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGAGTGCTGGAACTGTCGCCA	0.532		NaN											0	0	0	0.013537	0	12	43				
OR4L1	122742	broad.mit.edu	37	14	20528789	20528789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:20528789G>A	uc001vwn.1	+	1	586	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATACACCCTGGAATTATTTGT	0.408		NaN											0	0	0	0.01441	0	59	80				
MRPL52	122704	broad.mit.edu	37	14	23299420	23299420	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:23299420C>T	uc001wgw.3	+	3	144	c.114C>T	c.(112-114)TCC>TCT	p.S38S	MRPL52_uc001wgx.3_Silent_p.S37S|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Silent_p.S38S	NM_178336	NP_848026	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52 isoform a	38					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAACCCCTCCGGCTACGGGC	0.597		NaN											0	0	0	0.007291	0	27	94				
ZFYVE26	23503	broad.mit.edu	37	14	68265271	68265271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68265271G>C	uc001xka.2	-	11	1847	c.1708C>G	c.(1708-1710)CTG>GTG	p.L570V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L570V|ZFYVE26_uc010tta.1_Missense_Mutation_p.L570V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	570					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCAGGCACAGAGAGTCAGGA	0.478		NaN											0	0	0	0.000602	0	5	47				
ZFYVE26	23503	broad.mit.edu	37	14	68273295	68273295	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68273295C>G	uc001xka.2	-	6	1123	c.984G>C	c.(982-984)CTG>CTC	p.L328L	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L328L|ZFYVE26_uc010tta.1_Silent_p.L328L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	328					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTTGTTGCTCAGGCAGTAGA	0.498		NaN											0	0	0	0.001984	0	7	34				
ZFP36L1	677	broad.mit.edu	37	14	69257106	69257106	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:69257106G>C	uc001xkh.1	-	2	291	c.161C>G	c.(160-162)TCA>TGA	p.S54*	ZFP36L1_uc001xki.1_Nonsense_Mutation_p.S54*	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	54					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGGTGACTGAGTGCCTCCG	0.632		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	11	22		Valid		
TTC9	23508	broad.mit.edu	37	14	71137855	71137855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:71137855G>C	uc001xmi.2	+	3	995	c.652G>C	c.(652-654)GAA>CAA	p.E218Q		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	218							binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CTCCCAGAGAGAAAAAGAAGC	0.557		NaN											0	0	0	0.001984	0	7	28				
PTPN21	11099	broad.mit.edu	37	14	88945434	88945434	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:88945434C>T	uc001xwv.3	-	13	2672	c.2341G>A	c.(2341-2343)GCA>ACA	p.A781T	PTPN21_uc010twc.1_Missense_Mutation_p.A577T	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	781						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TGGGCCTCTGCGGTCGTGCGG	0.697		NaN											0	0	0	0.001984	0	7	45				
TDP1	55775	broad.mit.edu	37	14	90442142	90442142	+	Silent	SNP	G	G	A	rs139270583	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:90442142G>A	uc001xxy.2	+	7	1073	c.774G>A	c.(772-774)GCG>GCA	p.A258A	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.A258A|TDP1_uc010atn.2_Silent_p.A258A|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.A258A	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	258					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGATATTGCGTTTGGAACAC	0.373		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.006122	0	18	98				
C14orf68	283600	broad.mit.edu	37	14	100795778	100795778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:100795778C>G	uc001yhc.2	+	6	796	c.723C>G	c.(721-723)ATC>ATG	p.I241M	C14orf68_uc001yhd.2_Missense_Mutation_p.I95M	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	241	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				TGGACGTGATCAAGTCGAGAC	0.667		NaN											0	0	0	0.004482	0	9	58				
BRF1	2972	broad.mit.edu	37	14	105688029	105688029	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:105688029G>A	uc001yqp.2	-	11	1634	c.1271C>T	c.(1270-1272)TCA>TTA	p.S424L	BRF1_uc010tyo.1_Missense_Mutation_p.S309L|BRF1_uc010typ.1_Missense_Mutation_p.S309L|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Missense_Mutation_p.S220L|BRF1_uc001yqo.2_Missense_Mutation_p.S186L|BRF1_uc010axg.1_Missense_Mutation_p.S397L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	424					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GATGGAGTCTGAGATGCCCAG	0.672		NaN											0	0	0	0.001984	0	6	19				
FMN1	342184	broad.mit.edu	37	15	33358805	33358805	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:33358805G>C	uc001zhf.3	-	1	1281	c.1281C>G	c.(1279-1281)CTC>CTG	p.L427L	FMN1_uc001zhg.2_Silent_p.L427L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTGCGCTTGAGAGCTTCCA	0.532		NaN											0	0	0	0.001984	0	6	21				
RAD51	5888	broad.mit.edu	37	15	40993283	40993283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:40993283G>A	uc001zmi.3	+	3	408	c.109G>A	c.(109-111)GAT>AAT	p.D37N	RAD51_uc010bbw.2_Missense_Mutation_p.D37N|RAD51_uc010bbx.2_Missense_Mutation_p.D37N|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.D37N|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	37					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAATGCCAACGATGTGAAGAA	0.303		NaN						Homologous_recombination					0	0	0	0.008291	0	10	44				
DNAJC17	55192	broad.mit.edu	37	15	41071455	41071455	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41071455C>G	uc001zms.1	-	4	272	c.261G>C	c.(259-261)CAG>CAC	p.Q87H	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	87					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATCAAGTTTCTGGGTCCTCT	0.507		NaN											0	0	0	0.003163	0	14	89				
INO80	54617	broad.mit.edu	37	15	41272569	41272569	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41272569G>A	uc001zni.2	-	36	4736	c.4523C>T	c.(4522-4524)TCA>TTA	p.S1508L	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1508	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						AGAGGCGCTTGAAGGTCCAAA	0.547		NaN											0	0	0	0.008291	0	10	52				
GANC	2595	broad.mit.edu	37	15	42632010	42632010	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632010A>C	uc001zpi.2	+	17	2301	c.1987A>C	c.(1987-1989)ACC>CCC	p.T663P		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGAGGAACACACCCGACTCAT	0.572		NaN											0	0	0	0.001168	0	5	41				
GANC	2595	broad.mit.edu	37	15	42632035	42632035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632035G>C	uc001zpi.2	+	17	2326	c.2012G>C	c.(2011-2013)AGA>ACA	p.R671T		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GAAGCCATCAGAGAGCGCTAT	0.542		NaN											0	0	0	0.001168	0	6	41				
DMXL2	23312	broad.mit.edu	37	15	51758502	51758502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:51758502G>C	uc002abf.2	-	30	7621	c.7396C>G	c.(7396-7398)CTT>GTT	p.L2466V	DMXL2_uc002abd.2_Missense_Mutation_p.L537V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2467V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1830V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2466						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GACAAAGGAAGAAATGGCTGC	0.209		NaN											0	0	0	0.001855	0	13	51				
TMOD2	29767	broad.mit.edu	37	15	52074980	52074980	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52074980G>A	uc002abk.2	+	7	908	c.687G>A	c.(685-687)AAG>AAA	p.K229K	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.K185K	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	229					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		CTCACGTGAAGAAGTTCAGCC	0.433		NaN											0	0	0	0.000602	0	5	159				
TMOD2	29767	broad.mit.edu	37	15	52075011	52075011	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52075011G>C	uc002abk.2	+	7	939	c.718G>C	c.(718-720)GAC>CAC	p.D240H	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.D196H	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	240					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TCGCAGCAATGACCCTGTGGC	0.393		NaN											0	0	0	0.009096	0	4	121				
FAM63B	54629	broad.mit.edu	37	15	59123984	59123984	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:59123984G>C	uc002afj.2	+	6	1439	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q	FAM63B_uc002afi.2_Missense_Mutation_p.E413Q|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_Intron	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	413										central_nervous_system(1)	1						CTTTGTAGCTGAGCAGTTTCT	0.338		NaN											0	0	0	0.000602	0	5	54				
TLN2	83660	broad.mit.edu	37	15	62944237	62944237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:62944237C>G	uc002alb.3	+	3	268	c.268C>G	c.(268-270)CAG>GAG	p.Q90E		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	90	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ACAGAGACCTCAGAAAATCCG	0.403		NaN											0	0	0	0.006214	0	10	36				
HERC1	8925	broad.mit.edu	37	15	63930948	63930948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:63930948C>G	uc002amp.2	-	62	12077	c.11929G>C	c.(11929-11931)GAT>CAT	p.D3977H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3977					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ATTTGTTCATCCATGCCGTTA	0.393		NaN											0	0	0	0.013537	0	12	236				
ANKDD1A	348094	broad.mit.edu	37	15	65242076	65242076	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:65242076C>G	uc002aoa.2	+	14	1395	c.1366C>G	c.(1366-1368)CAG>GAG	p.Q456E	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.Q333E	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	456	Death.				signal transduction					ovary(1)	1						CAGGAGCTATCAGGAGCACGG	0.622		NaN											0	0	0	0.004672	0	3	79				
CLK3	1198	broad.mit.edu	37	15	74912356	74912356	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74912356C>T	uc010uln.1	+	3	1064	c.603C>T	c.(601-603)GAC>GAT	p.D201D	CLK3_uc002ayg.3_Silent_p.D53D|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.D201D|CLK3_uc002ayj.3_Silent_p.D53D|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	201	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GCAGCCATGACCGCCTGCCCT	0.587		NaN											0	0	0	0.00245	0	13	51				
EDC3	80153	broad.mit.edu	37	15	74927826	74927826	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74927826G>C	uc002ayn.2	-	9	1604	c.1116C>G	c.(1114-1116)GTC>GTG	p.V372V	EDC3_uc002ayo.2_Silent_p.V372V|EDC3_uc002aym.2_Silent_p.V372V	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	372	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						CCAACATCTTGACAAAATTGG	0.522		NaN									OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	10	79				
NTRK3	4916	broad.mit.edu	37	15	88476307	88476307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:88476307C>T	uc002bme.1	-	15	1987	c.1825G>A	c.(1825-1827)GAT>AAT	p.D609N	NTRK3_uc002bmh.2_Missense_Mutation_p.D601N|NTRK3_uc002bmf.1_Missense_Mutation_p.D609N|NTRK3_uc010upl.1_Missense_Mutation_p.D511N|NTRK3_uc010bnh.1_Missense_Mutation_p.D601N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	609	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCCCCATCGCCGCACACT	0.552		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.001168	0	6	46				
AXIN1	8312	broad.mit.edu	37	16	339472	339472	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:339472G>C	uc002cgp.1	-	10	2607	c.2430C>G	c.(2428-2430)TTC>TTG	p.F810L	AXIN1_uc002cgq.1_Missense_Mutation_p.F774L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	810	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCAGCTCCTTGAACTGGCCCA	0.627		NaN											0	0	0	0.00245	0	13	52				
C16orf5	29965	broad.mit.edu	37	16	4563773	4563773	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:4563773C>G	uc002cwu.2	-	3	460	c.165G>C	c.(163-165)GAG>GAC	p.E55D	C16orf5_uc002cwv.2_Missense_Mutation_p.E55D|C16orf5_uc002cww.2_Missense_Mutation_p.E55D|C16orf5_uc010uxl.1_Missense_Mutation_p.E55D|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	55	Pro-rich.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)				GACCCGGCGGCTCATAGGGTG	0.647		NaN											0	0	0	0.003163	0	15	53				
NPIP	9284	broad.mit.edu	37	16	15045813	15045813	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:15045813C>G	uc002dcy.3	+	8	984	c.984C>G	c.(982-984)CTC>CTG	p.L328L	NPIP_uc002dcx.3_RNA	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein	328	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						ATGATAATCTCAAGACACCTC	0.468		NaN											0	0	0	0.001168	0	4	60				
LAT	27040	broad.mit.edu	37	16	28997739	28997739	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:28997739G>A	uc002dsd.2	+	5	634	c.282G>A	c.(280-282)ACG>ACA	p.T94T	uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.T130T|LAT_uc002dsb.2_Silent_p.T94T|LAT_uc002dsc.2_Silent_p.T93T|LAT_uc010vdk.1_Silent_p.T94T|LAT_uc010vdl.1_Silent_p.T93T	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	94	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				CCCACCGGACGCCATCTTCCC	0.627		NaN											0	0	0	0.009535	0	29	67				
SPN	6693	broad.mit.edu	37	16	29676187	29676187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:29676187G>A	uc002dtm.2	+	2	1274	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.E380K|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	380	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GGTGGCCAGTGAGGATGGGGC	0.652		NaN											0	0	0	0.000602	0	3	14				
CORO1A	11151	broad.mit.edu	37	16	30199708	30199708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:30199708C>A	uc002dww.2	+	10	1214	c.1092C>A	c.(1090-1092)TAC>TAA	p.Y364*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Nonsense_Mutation_p.Y364*|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Nonsense_Mutation_p.Y258*|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	364					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						AGGACCTGTACCCACCCACCG	0.647		NaN											1	0	6.05902e-23	0.003755	6.63898e-23	30	94				
GNAO1	2775	broad.mit.edu	37	16	56385394	56385394	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:56385394C>G	uc002eiu.3	+	7	1719	c.822C>G	c.(820-822)CTC>CTG	p.L274L		NM_020988	NP_066268	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	274					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				AGAAAGATCTCTTTGGCGAGA	0.498		NaN											0	0	0	0.001168	0	5	58				
NLRC5	84166	broad.mit.edu	37	16	57059987	57059987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:57059987C>A	uc002ekk.1	+	6	1357	c.1132C>A	c.(1132-1134)CAC>AAC	p.H378N	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.H183N|NLRC5_uc002ekl.2_Missense_Mutation_p.H183N|NLRC5_uc002ekm.2_Missense_Mutation_p.H183N|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	378	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATATGTGAATCACTTCTTCAG	0.537		NaN											1	0	1.01871e-10	0.008871	1.10234e-10	19	115				
CDH16	1014	broad.mit.edu	37	16	66950200	66950200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:66950200C>T	uc002eql.2	-	4	335	c.262G>A	c.(262-264)GAG>AAG	p.E88K	CDH16_uc010cdy.2_Missense_Mutation_p.E88K|CDH16_uc002eqm.2_Missense_Mutation_p.E88K	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	88	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTGCCTGCTCCTCTCGGTCC	0.622		NaN											0	0	0	0.008291	0	10	54				
PHLPP2	23035	broad.mit.edu	37	16	71701149	71701149	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:71701149G>C	uc002fax.2	-	11	1722	c.1716C>G	c.(1714-1716)CTC>CTG	p.L572L	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L572L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	572	LRR 15.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CCAGCACCTCGAGGGGGATGT	0.478		NaN											0	0	0	0.001168	0	6	71				
KIAA0664	23277	broad.mit.edu	37	17	2605236	2605236	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:2605236C>G	uc002fuy.1	-	4	563	c.477G>C	c.(475-477)CTG>CTC	p.L159L	KIAA0664_uc002fux.1_Silent_p.L91L	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	159							binding			breast(2)	2						TGAAGACACTCAGGAAGGACA	0.667		NaN											0	0	0	0.004482	0	6	42				
GGT6	124975	broad.mit.edu	37	17	4461953	4461953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:4461953C>T	uc002fyd.3	-	4	899	c.839G>A	c.(838-840)GGA>GAA	p.G280E	GGT6_uc010vsb.1_Missense_Mutation_p.G132E|GGT6_uc002fyc.3_Missense_Mutation_p.G248E|GGT6_uc010vsc.1_Missense_Mutation_p.G286E	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	280	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						CCCCAGGTCTCCCGCCAGTAG	0.657		NaN											0	0	0	0.006122	0	17	5				
DHX33	56919	broad.mit.edu	37	17	5365687	5365687	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:5365687C>T	uc002gca.2	-	3	632	c.630G>A	c.(628-630)GTG>GTA	p.V210V	DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Silent_p.V37V|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	210	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GTGCAGCTTTCACCACTCCAA	0.453		NaN											0	0	0	0.004878	0	38	19				
CD68	968	broad.mit.edu	37	17	7483018	7483018	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7483018C>T	uc002ghv.2	+	1	214	c.23C>T	c.(22-24)TCG>TTG	p.S8L	CD68_uc002ghu.2_Missense_Mutation_p.S8L	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	8						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						GTGCTTTTCTCGGGGGCCCTG	0.642		NaN											0	0	0	0.004007	0	15	5				
TP53	7157	broad.mit.edu	37	17	7578513	7578513	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7578513C>G	uc002gim.2	-	5	611	c.417G>C	c.(415-417)AAG>AAC	p.K139N	TP53_uc002gig.1_Missense_Mutation_p.K139N|TP53_uc002gih.2_Missense_Mutation_p.K139N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K7N|TP53_uc010cng.1_Missense_Mutation_p.K7N|TP53_uc002gii.1_Missense_Mutation_p.K7N|TP53_uc010cnh.1_Missense_Mutation_p.K139N|TP53_uc010cni.1_Missense_Mutation_p.K139N|TP53_uc002gij.2_Missense_Mutation_p.K139N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K46N|TP53_uc002gio.2_Missense_Mutation_p.K7N|TP53_uc010vug.1_Missense_Mutation_p.K100N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	139	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> N (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGCAGGTCTTGGCCAGTT	0.567		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013114	0	41	12		Valid		
MYH10	4628	broad.mit.edu	37	17	8395764	8395764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:8395764C>T	uc002gll.2	-	32	4525	c.4429G>A	c.(4429-4431)GAG>AAG	p.E1477K	MYH10_uc002glm.2_Missense_Mutation_p.E1508K|MYH10_uc010cnx.2_Missense_Mutation_p.E1486K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1477	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCTCTGGCCTCGGCTTCGGCC	0.592		NaN											0	0	0	0.009096	0	4	72				
MYH13	8735	broad.mit.edu	37	17	10209797	10209797	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:10209797C>A	uc002gmk.1	-	37	5535	c.5445G>T	c.(5443-5445)CAG>CAT	p.Q1815H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1815	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTTTCTGGATCTGCTTCTTCC	0.537		NaN											1	0	8.00594e-06	0.007413	8.47344e-06	19	184				
UNC119	9094	broad.mit.edu	37	17	26879509	26879509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:26879509G>A	uc002hbk.2	-	1	138	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	UNC119_uc002hbm.2_Nonsense_Mutation_p.Q23*	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	23					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)					GCCACGCTCTGGCCCGAGGGC	0.751		NaN											0	0	0	0.004672	0	3	8				
CPD	1362	broad.mit.edu	37	17	28749923	28749923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:28749923G>C	uc002hfb.1	+	5	1554	c.1539G>C	c.(1537-1539)TTG>TTC	p.L513F	CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	513	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AAATCTTCTTGAGAAGGTTTG	0.393		NaN											0	0	0	0.00874	0	38	76				
PSMD11	5717	broad.mit.edu	37	17	30807593	30807593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:30807593C>T	uc010cta.1	+	13	1253	c.1213C>T	c.(1213-1215)CAG>TAG	p.Q405*	PSMD11_uc002hhm.2_Nonsense_Mutation_p.Q405*	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAAACAATTCAGAACATGAG	0.483		NaN											0	0	0	0.009096	0	4	78				
NBR1	4077	broad.mit.edu	37	17	41329983	41329983	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41329983C>G	uc010czd.2	+	3	273	c.133C>G	c.(133-135)CAA>GAA	p.Q45E	NBR1_uc010diz.2_Missense_Mutation_p.Q45E|NBR1_uc010whu.1_Missense_Mutation_p.Q45E|NBR1_uc010whv.1_Missense_Mutation_p.Q45E|NBR1_uc010whw.1_Intron	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	45	OPR.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAATACTATTCAAATAAAATA	0.308		NaN											0	0	0	0.004672	0	3	28				
MPP3	4356	broad.mit.edu	37	17	41907106	41907106	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41907106G>A	uc002iei.3	-	7	523	c.357C>T	c.(355-357)CTC>CTT	p.L119L	MPP3_uc002ieh.2_Silent_p.L144L|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.L119L|MPP3_uc010wik.1_Silent_p.L144L|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	119					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCAGAGGCGGGAGAACGGGGT	0.557		NaN											0	0	0	0.00333	0	23	91				
C17orf53	78995	broad.mit.edu	37	17	42232692	42232692	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42232692C>A	uc002ifi.1	+	8	1871	c.1686C>A	c.(1684-1686)CTC>CTA	p.L562L	C17orf53_uc010czq.1_Silent_p.L561L|C17orf53_uc002ifj.1_Silent_p.L486L|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	562											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATCACTACCTCAACGTGACAC	0.527		NaN											1	0	2.56e-06	0.009096	2.72274e-06	4	103				
ASB16	92591	broad.mit.edu	37	17	42255693	42255693	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42255693C>G	uc002ifl.1	+	5	1381	c.1297C>G	c.(1297-1299)CGG>GGG	p.R433G	ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_Intron	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	433	SOCS box.				intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGCCACCCGGCTGCCACT	0.677		NaN											0	0	0	0.001984	0	6	13				
EFTUD2	9343	broad.mit.edu	37	17	42936546	42936546	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42936546C>G	uc002ihn.2	-	19	2125	c.1864G>C	c.(1864-1866)GAG>CAG	p.E622Q	EFTUD2_uc010wje.1_Missense_Mutation_p.E587Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E612Q	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	622						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCAGACTCCTCCACCTGAAAC	0.502		NaN											0	0	0	0.00308	0	8	73				
TEX14	56155	broad.mit.edu	37	17	56690847	56690847	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:56690847C>G	uc010dcz.1	-	9	1076	c.958G>C	c.(958-960)GAG>CAG	p.E320Q	TEX14_uc002iwr.1_Missense_Mutation_p.E314Q|TEX14_uc002iws.1_Missense_Mutation_p.E314Q|TEX14_uc010dda.1_Missense_Mutation_p.E94Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	320	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGTTTTCTCTAGGTCCTGG	0.498		NaN											0	0	0	0.012213	0	30	57				
TMEM49	81671	broad.mit.edu	37	17	57917167	57917167	+	Silent	SNP	C	C	T	rs111262775	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:57917167C>T	uc002ixu.3	+	12	1389	c.1116C>T	c.(1114-1116)GTC>GTT	p.V372V	TMEM49_uc010wog.1_Silent_p.V180V|TMEM49_uc010woh.1_Silent_p.V316V|TMEM49_uc010woi.1_Silent_p.V275V|TMEM49_uc010woj.1_Silent_p.V238V|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	372	Helical; (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)			AAAAGTTGGTCGTTGTCATGG	0.388		NaN											0	0	0	0.013726	0	32	195				
TLK2	11011	broad.mit.edu	37	17	60683562	60683562	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:60683562C>T	uc010ddp.2	+	21	2265	c.1997C>T	c.(1996-1998)TCG>TTG	p.S666L	TLK2_uc002izx.3_Missense_Mutation_p.S492L|TLK2_uc002izz.3_Missense_Mutation_p.S644L|TLK2_uc002jaa.3_Missense_Mutation_p.S612L|TLK2_uc010wpd.1_Missense_Mutation_p.S612L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	666	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GATGTGTGGTCGGTGGGTGTG	0.398		NaN											0	0	0	0.000602	0	3	36				
STRADA	92335	broad.mit.edu	37	17	61787963	61787963	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61787963C>G	uc002jbm.2	-	8	628	c.469G>C	c.(469-471)GAT>CAT	p.D157H	STRADA_uc002jbn.2_Missense_Mutation_p.D99H|STRADA_uc002jbo.2_Missense_Mutation_p.D120H|STRADA_uc002jbp.2_Missense_Mutation_p.D120H|STRADA_uc002jbq.2_Missense_Mutation_p.D99H|STRADA_uc010wpq.1_Missense_Mutation_p.D113H|STRADA_uc010wpr.1_Missense_Mutation_p.D128H|STRADA_uc010ddw.2_Missense_Mutation_p.D128H|STRADA_uc002jbr.2_Missense_Mutation_p.D99H	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	157	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						CAGATGAGATCTTTTGCAGAA	0.498		NaN											0	0	0	0.001168	0	6	35				
GH1	2688	broad.mit.edu	37	17	61995219	61995219	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61995219G>A	uc002jdj.2	-	4	419	c.357C>T	c.(355-357)CTC>CTT	p.L119L	GH1_uc002jdi.2_Silent_p.L104L|GH1_uc002jdk.2_Silent_p.L79L|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	119					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						AGACACTCCTGAGGAACTGCA	0.607		NaN											0	0	0	0.001855	0	13	80				
CACNG5	27091	broad.mit.edu	37	17	64880683	64880683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:64880683G>A	uc010wqi.1	+	5	712	c.475G>A	c.(475-477)GAG>AAG	p.E159K	CACNG5_uc002jfr.2_Missense_Mutation_p.E159K|CACNG5_uc010wqj.1_Missense_Mutation_p.E159K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CATCAACGATGAGATGCTCAA	0.562		NaN											0	0	0	0.008291	0	10	71				
ABCA8	10351	broad.mit.edu	37	17	66872823	66872823	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:66872823C>T	uc002jhp.2	-	32	4280	c.4101G>A	c.(4099-4101)CTG>CTA	p.L1367L	ABCA8_uc002jhq.2_Silent_p.L1407L|ABCA8_uc010wqq.1_Silent_p.L1402L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1367	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GCTGGTCCTGCAGCTTGAGCG	0.498		NaN											0	0	0	0.00333	0	22	75				
GRIN2C	2905	broad.mit.edu	37	17	72845996	72845996	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72845996G>T	uc002jlt.1	-	7	1724	c.1568C>A	c.(1567-1569)TCT>TAT	p.S523Y	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S523Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	523	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	AAAGGGTACAGAGAAGTCTAC	0.622		NaN											1	0	1.85244e-09	0.00333	1.99458e-09	25	76				
GRIN2C	2905	broad.mit.edu	37	17	72846001	72846001	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72846001G>A	uc002jlt.1	-	7	1719	c.1563C>T	c.(1561-1563)GAC>GAT	p.D521D	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.D521D	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	521	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTACAGAGAAGTCTACGATCT	0.617		NaN											0	0	0	0.00632	0	28	72				
NUP85	79902	broad.mit.edu	37	17	73204673	73204673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:73204673C>G	uc002jng.1	+	2	345	c.85C>G	c.(85-87)CCA>GCA	p.P29A	NUP85_uc010dgd.1_Missense_Mutation_p.P29A|NUP85_uc010wrv.1_Intron	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	29					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGACTGGGGTCCAGGGGAGAT	0.358		NaN											0	0	0	0.001984	0	6	241				
PCYT2	5833	broad.mit.edu	37	17	79864646	79864646	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:79864646G>A	uc002kcf.1	-	7	729	c.666C>T	c.(664-666)TTC>TTT	p.F222F	PCYT2_uc010wva.1_Silent_p.F190F|PCYT2_uc010wvb.1_Silent_p.F190F|PCYT2_uc002kce.1_Silent_p.F144F|PCYT2_uc002kcg.1_Silent_p.F251F|PCYT2_uc002kch.1_Silent_p.F240F|PCYT2_uc002kci.1_Silent_p.F181F|PCYT2_uc010dii.1_Silent_p.F222F|PCYT2_uc010wvc.1_Silent_p.F144F	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	222	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACAGGTCGAAGGCACCAG	0.607		NaN											0	0	0	0.006122	0	16	32				
CD7	924	broad.mit.edu	37	17	80274695	80274695	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:80274695C>T	uc002kel.1	-	2	354	c.245G>A	c.(244-246)AGA>AAA	p.R82K	CD7_uc010din.2_Missense_Mutation_p.R82K|CD7_uc002kem.2_Silent_p.Q63Q|CD7_uc010wvk.1_Missense_Mutation_p.R82K	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	82	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCGGAACCGTCTGTCCGTAGT	0.637		NaN											0	0	0	0.003271	0	37	84				
TWSG1	57045	broad.mit.edu	37	18	9396405	9396405	+	Silent	SNP	C	C	T	rs143807731		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:9396405C>T	uc002knz.2	+	4	542	c.351C>T	c.(349-351)AAC>AAT	p.N117N	TWSG1_uc002koa.2_Silent_p.N42N	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation precursor	117										ovary(1)|pancreas(1)	2						TGAATTGGAACATCGTTTCTT	0.463		NaN											0	0	0	0.004007	0	14	92				
POTEC	388468	broad.mit.edu	37	18	14513681	14513681	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:14513681C>T	uc010dln.2	-	10	1967	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	505	Potential.									skin(3)	3						ATTTTCTTTTCAGCCACTTCT	0.299		NaN											0	0	0	0.003163	0	15	60				
ROCK1	6093	broad.mit.edu	37	18	18629788	18629788	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:18629788C>T	uc002kte.2	-	3	1170	c.229G>A	c.(229-231)GAA>AAA	p.E77K		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	77	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTCACTACTTCATAATCTTCA	0.274		NaN											0	0	0	0.001855	0	11	15				
ASXL3	80816	broad.mit.edu	37	18	31323516	31323516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:31323516C>T	uc010dmg.1	+	12	3759	c.3704C>T	c.(3703-3705)TCT>TTT	p.S1235F	ASXL3_uc002kxq.2_Missense_Mutation_p.S942F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1235	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AATAAAAATTCTGTCCCTGTA	0.373		NaN											0	0	0	0.00308	0	8	128				
NARS	4677	broad.mit.edu	37	18	55270142	55270142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:55270142C>T	uc002lgs.2	-	12	1513	c.1285G>A	c.(1285-1287)GAC>AAC	p.D429N	NARS_uc002lgt.2_Missense_Mutation_p.D428N|NARS_uc010xea.1_Missense_Mutation_p.D180N	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	429					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	TTAATGGTGTCTGTCATCAGT	0.448		NaN											0	0	0	0.001984	0	6	53				
CDH7	1005	broad.mit.edu	37	18	63477229	63477229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:63477229C>T	uc002ljz.2	+	3	825	c.500C>T	c.(499-501)CCC>CTC	p.P167L	CDH7_uc002lka.2_Missense_Mutation_p.P167L|CDH7_uc002lkb.2_Missense_Mutation_p.P167L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	167	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GAAATGTCTCCCGTGGGTAAG	0.398		NaN											0	0	0	0.010818	0	31	46				
TMEM146	257062	broad.mit.edu	37	19	5771022	5771022	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:5771022C>G	uc002mda.2	+	19	1763	c.1702C>G	c.(1702-1704)CAG>GAG	p.Q568E	TMEM146_uc010duj.1_Missense_Mutation_p.Q226E	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	568	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTACTCCTACCAGCAGCTGGG	0.607		NaN											0	0	0	0.013537	0	13	50				
INSR	3643	broad.mit.edu	37	19	7125313	7125313	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:7125313C>G	uc002mgd.1	-	17	3348	c.3239G>C	c.(3238-3240)GGC>GCC	p.G1080A	INSR_uc002mge.1_Missense_Mutation_p.G1068A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1080	Protein kinase.|Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGGTGAAGCCCTTCATGAC	0.607		NaN											0	0	0	0.000602	0	5	43				
ZNF266	10781	broad.mit.edu	37	19	9526415	9526415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:9526415G>T	uc002mll.2	-	3	385	c.119C>A	c.(118-120)TCA>TAA	p.S40*	ZNF266_uc002mlm.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mln.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mlo.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwp.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwq.2_Nonsense_Mutation_p.S40*	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTCCATTCTGAAGCTGAAGA	0.398		NaN											1	0	4.3838e-07	0.001855	4.69693e-07	13	25				
KRI1	65095	broad.mit.edu	37	19	10670041	10670041	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:10670041G>A	uc002moy.1	-	12	1215	c.1206C>T	c.(1204-1206)CTC>CTT	p.L402L	KRI1_uc002mow.1_Silent_p.L21L|KRI1_uc002mox.1_Silent_p.L398L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	402	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCACCTGCATGAGCTGGTCGT	0.488		NaN											0	0	0	0.006214	0	10	34				
HSH2D	84941	broad.mit.edu	37	19	16268238	16268238	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:16268238C>T	uc002ndp.3	+	9	1223	c.692C>T	c.(691-693)TCG>TTG	p.S231L	HSH2D_uc002ndr.2_Silent_p.V174V|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	231						cytoplasm|nucleus					0						GTGAACTTGTCGTCACTCTTG	0.602		NaN											0	0	0	0.00308	0	8	74				
F2RL3	9002	broad.mit.edu	37	19	17000948	17000948	+	Missense_Mutation	SNP	G	G	A	rs147915788		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17000948G>A	uc002nfa.2	+	2	849	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	225	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						CGCTCCGATCGCGTGCTCTGC	0.697		NaN											0	0	0	0.000602	0	4	14				
MRPL34	64981	broad.mit.edu	37	19	17417150	17417150	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17417150C>T	uc002ngc.1	+	2	466	c.241C>T	c.(241-243)CGC>TGC	p.R81C	ABHD8_uc002ngb.3_5'Flank	NM_023937	NP_076426	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34 precursor	81					translation		structural constituent of ribosome				0						GGTCATCCTTCGCCGAATGCT	0.652		NaN											0	0	0	0.004672	0	3	14				
ZNF429	353088	broad.mit.edu	37	19	21719683	21719683	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:21719683G>A	uc002nqd.1	+	4	965	c.828G>A	c.(826-828)AAG>AAA	p.K276K	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	276	C2H2-type 5.			Missing (in Ref. 2; AAP30884 and 3; AAK01422).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTACCCATAAGAGAATTCATT	0.378		NaN											0	0	0	0.009096	0	4	35				
ZNF91	7644	broad.mit.edu	37	19	23545301	23545301	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545301C>G	uc002nre.2	-	4	593	c.480G>C	c.(478-480)TTG>TTC	p.L160F	ZNF91_uc010xrj.1_Missense_Mutation_p.L128F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	160	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGAAGACTTTCAAATATTTCC	0.328		NaN											0	0	0	0.003163	0	15	51				
ZNF91	7644	broad.mit.edu	37	19	23545372	23545372	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545372C>G	uc002nre.2	-	4	522	c.409G>C	c.(409-411)GAA>CAA	p.E137Q	ZNF91_uc010xrj.1_Missense_Mutation_p.E105Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTATAACCTTCTTTGTGCACC	0.299		NaN											0	0	0	0.005443	0	23	60				
ZNF681	148213	broad.mit.edu	37	19	23938261	23938261	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23938261C>G	uc002nrk.3	-	2	238	c.96G>C	c.(94-96)GTG>GTC	p.V32V	ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCTAACATCACATTCCTAT	0.358		NaN											0	0	0	0.007413	0	17	95				
TSHZ3	57616	broad.mit.edu	37	19	31768941	31768941	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:31768941C>T	uc002nsy.3	-	2	1823	c.1758G>A	c.(1756-1758)ACG>ACA	p.T586T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	586					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCTGGTTTTTCGTCGGGGAGA	0.552		NaN											0	0	0	0.012319	0	21	114				
ZNF146	7705	broad.mit.edu	37	19	36727471	36727471	+	Silent	SNP	T	T	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:36727471T>G	uc002odq.3	+	4	1652	c.129T>G	c.(127-129)CCT>CCG	p.P43P	ZNF146_uc010eet.2_Silent_p.P43P|ZNF146_uc010eeu.2_Silent_p.P43P	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	43					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GAGAGAAACCTTTTGAATGTA	0.418		NaN											0	0	0	0.01441	0	130	70				
ZNF420	147923	broad.mit.edu	37	19	37619283	37619283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:37619283C>T	uc002ofl.2	+	5	1605	c.1390C>T	c.(1390-1392)CAA>TAA	p.Q464*		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	464	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTTACTCAACATGAGCG	0.423		NaN											0	0	0	0.009096	0	4	80				
SIPA1L3	23094	broad.mit.edu	37	19	38610501	38610501	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:38610501G>A	uc002ohk.2	+	9	3356	c.2847G>A	c.(2845-2847)AGG>AGA	p.R949R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	949					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGACATAAGGGAGATAGTGC	0.532		NaN											0	0	0	0.00308	0	7	115				
EID2	163126	broad.mit.edu	37	19	40030401	40030401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:40030401C>T	uc002oma.2	-	1	438	c.319G>A	c.(319-321)GAG>AAG	p.E107K		NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	CREBBP/EP300 inhibitor 2	107	Ala-rich.				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGGGCGACCTCCGCCATCCGG	0.418		NaN											0	0	0	0.001168	0	6	90				
ZNF574	64763	broad.mit.edu	37	19	42584035	42584035	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:42584035C>T	uc002osm.3	+	2	1446	c.1277C>T	c.(1276-1278)CCA>CTA	p.P426L	ZNF574_uc002osk.3_Missense_Mutation_p.P516L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACACCAGTCCCACCAGAGGAA	0.587		NaN											0	0	0	0.008291	0	10	168				
ZNF45	7596	broad.mit.edu	37	19	44417605	44417605	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44417605G>C	uc002oxu.1	-	4	2082	c.1983C>G	c.(1981-1983)GTC>GTG	p.V661V	ZNF45_uc002oxw.1_Silent_p.V661V|ZNF45_uc002oxv.1_Silent_p.V661V	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	661	C2H2-type 18.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CATCAGCATGGACTCGCTGAT	0.433		NaN											0	0	0	0.013537	0	10	94				
ZNF45	7596	broad.mit.edu	37	19	44418218	44418218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44418218G>C	uc002oxu.1	-	4	1469	c.1370C>G	c.(1369-1371)TCA>TGA	p.S457*	ZNF45_uc002oxw.1_Nonsense_Mutation_p.S457*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S457*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	457	C2H2-type 11.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CAGAAGATTTGAGGCCTGGCT	0.473		NaN											0	0	0	0.001168	0	5	125				
ZNF223	7766	broad.mit.edu	37	19	44571040	44571040	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44571040C>T	uc002oyf.1	+	5	1312	c.1059C>T	c.(1057-1059)TTC>TTT	p.F353F	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	353	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				GGAAGAGCTTCAGACGGTCCT	0.433		NaN											0	0	0	0.006122	0	17	140				
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:49558229T>C	uc002pmd.2	-	2	417	c.52A>G	c.(52-54)ACA>GCA	p.T18A	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A.		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GATGCCCATGTCCCGCCCATG	0.657		NaN											0	0	0	0.009096	0	3	116				
TNNT1	7138	broad.mit.edu	37	19	55652318	55652318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:55652318C>T	uc002qjb.3	-	9	409	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	TNNT1_uc002qiz.3_Missense_Mutation_p.R37Q|TNNT1_uc002qja.3_Missense_Mutation_p.R37Q|TNNT1_uc002qjc.3_Missense_Mutation_p.R107Q|TNNT1_uc002qje.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjd.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R103Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	107					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTCTCTGACCGGCGCCGCTC	0.602		NaN									OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	36				
ZNF587	84914	broad.mit.edu	37	19	58371385	58371385	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58371385C>T	uc002qql.2	+	3	1743	c.1605C>T	c.(1603-1605)CTC>CTT	p.L535L	ZNF587_uc002qqb.2_Silent_p.L492L|ZNF587_uc010yhh.1_Silent_p.L492L|ZNF587_uc002qqi.1_Silent_p.L492L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L534L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	535	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTTCCAGTCTCATTAAACACA	0.403		NaN											0	0	0	0.00499	0	16	89				
ZNF329	79673	broad.mit.edu	37	19	58640693	58640693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58640693G>C	uc002qrn.2	-	4	415	c.178C>G	c.(178-180)CAG>GAG	p.Q60E	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATTGCTTCCTGAGTCCCTGGT	0.488		NaN											0	0	0	0.004672	0	3	120				
CHMP2A	27243	broad.mit.edu	37	19	59063309	59063309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:59063309C>G	uc002qti.2	-	4	931	c.505G>C	c.(505-507)GAT>CAT	p.D169H	CHMP2A_uc002qtj.2_Missense_Mutation_p.D169H|CHMP2A_uc002qtk.2_Missense_Mutation_p.D169H	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	169	Interaction with VPS4B.			DE->AA: Diminishes interaction with VPS4B.	cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCAGCTCATCCAGAACCTGG	0.577		NaN											0	0	0	0.008871	0	21	44				
ASAP2	8853	broad.mit.edu	37	2	9419502	9419502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:9419502C>G	uc002qzh.2	+	2	523	c.183C>G	c.(181-183)ATC>ATG	p.I61M	ASAP2_uc002qzi.2_Missense_Mutation_p.I61M	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	61					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						TGAAAGCAATCAACAGCTCTG	0.428		NaN											0	0	0	0.005443	0	23	35				
RAD51AP2	729475	broad.mit.edu	37	2	17696923	17696923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:17696923C>G	uc002rcl.1	-	1	2784	c.2760G>C	c.(2758-2760)AAG>AAC	p.K920N	RAD51AP2_uc010exn.1_Missense_Mutation_p.K911N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	920										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGTCATTCTTTCTGTGAA	0.289		NaN											0	0	0	0.006214	0	9	35				
C2orf16	84226	broad.mit.edu	37	2	27801569	27801569	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:27801569G>C	uc002rkz.3	+	1	2181	c.2130G>C	c.(2128-2130)CAG>CAC	p.Q710H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	710										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ACGTGTGTCAGAATAGGGACT	0.418		NaN											0	0	0	0.012319	0	23	48				
SLC30A6	55676	broad.mit.edu	37	2	32396442	32396442	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:32396442G>C	uc002roe.1	+	2	127	c.90G>C	c.(88-90)AGG>AGC	p.R30S	SLC30A6_uc002rof.1_Missense_Mutation_p.R30S|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.R30S|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	30	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGACCGAAGGGTAAGTTATT	0.348		NaN											0	0	0	0.00308	0	7	36				
PLEKHH2	130271	broad.mit.edu	37	2	43937144	43937144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:43937144C>G	uc010yny.1	+	12	2065	c.1982C>G	c.(1981-1983)TCT>TGT	p.S661C	PLEKHH2_uc002rte.3_Missense_Mutation_p.S661C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S660C	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	661	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCTCTCCTCTGTGGCTTCT	0.458		NaN											0	0	0	0.004482	0	8	166				
CHAC2	494143	broad.mit.edu	37	2	54001597	54001597	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:54001597C>G	uc002rxk.1	+	3	585	c.490C>G	c.(490-492)CTT>GTT	p.L164V	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	164											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGAGCATCTTTTCGCTTT	0.348		NaN											0	0	0	0.00308	0	7	49				
C2orf78	388960	broad.mit.edu	37	2	74043855	74043855	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:74043855C>T	uc002sjr.1	+	3	2626	c.2505C>T	c.(2503-2505)CTC>CTT	p.L835L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	835										ovary(2)	2						TGACCAGTCTCCGGTCACTGC	0.502		NaN											0	0	0	0.004007	0	14	79				
TSGA10	80705	broad.mit.edu	37	2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:99721848C>G	uc002szg.3	-	7	1061	c.433G>C	c.(433-435)GAG>CAG	p.E145Q	TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						TCCAGCTCCTCTATCCTTTGT	0.338		NaN											0	0	0	0.004672	0	3	46				
SLC9A4	389015	broad.mit.edu	37	2	103128724	103128724	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:103128724G>C	uc002tbz.3	+	7	2008	c.1551G>C	c.(1549-1551)GTG>GTC	p.V517V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	517	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						ACTACCAAGTGAGAGACAAGT	0.398		NaN											0	0	0	0.010504	0	20	79				
CNTNAP5	129684	broad.mit.edu	37	2	125367461	125367461	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:125367461C>T	uc002tno.2	+	12	2201	c.1837C>T	c.(1837-1839)CCA>TCA	p.P613S	CNTNAP5_uc010flu.2_Missense_Mutation_p.P614S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	613	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCAGCGGCCCACTGGGACC	0.522		NaN											0	0	0	0.000602	0	5	66				
NEB	4703	broad.mit.edu	37	2	152470790	152470790	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:152470790A>G	uc010fnx.2	-	73	11063	c.10872T>C	c.(10870-10872)GAT>GAC	p.D3624D		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3624	Nebulin 99.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCACTCACATCACTCTGCA	0.338		NaN											0	0	0	0.012319	0	19	32				
DHRS9	10170	broad.mit.edu	37	2	169939948	169939948	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:169939948C>T	uc002uep.2	+	6	1927	c.423C>T	c.(421-423)CTC>CTT	p.L141L	DHRS9_uc002ueq.2_Silent_p.L141L|DHRS9_uc010zdc.1_Silent_p.L201L|DHRS9_uc010zdd.1_Silent_p.L141L|DHRS9_uc010zde.1_Silent_p.L141L	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	141					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						TGTTTGGACTCATCAGTGTGA	0.488		NaN											0	0	0	0.008291	0	11	73				
TTN	7273	broad.mit.edu	37	2	179413733	179413733	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179413733C>T	uc010zfg.1	-	288	85140	c.84916G>A	c.(84916-84918)GAG>AAG	p.E28306K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22001K|TTN_uc010zfi.1_Missense_Mutation_p.E21934K|TTN_uc010zfj.1_Missense_Mutation_p.E21809K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29233							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATGCCTCTGCATTCACC	0.423		NaN											0	0	0	0.007413	0	18	83				
TTN	7273	broad.mit.edu	37	2	179501355	179501355	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179501355A>G	uc010zfg.1	-	174	33619	c.33395T>C	c.(33394-33396)GTT>GCT	p.V11132A	TTN_uc010zfh.1_Missense_Mutation_p.V4827A|TTN_uc010zfi.1_Missense_Mutation_p.V4760A|TTN_uc010zfj.1_Missense_Mutation_p.V4635A|TTN_uc010fre.1_Missense_Mutation_p.V993A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12059							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGAGCCAACGAACTCTGA	0.463		NaN											0	0	0	0.001168	0	6	63				
STAT1	6772	broad.mit.edu	37	2	191839600	191839600	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:191839600C>G	uc002usj.2	-	24	2582	c.2194G>C	c.(2194-2196)GAC>CAC	p.D732H	STAT1_uc010fse.1_Missense_Mutation_p.D732H	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	732					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GACACCTCGTCAAACTCCTCA	0.493		NaN											0	0	0	0.001984	0	7	40				
SDPR	8436	broad.mit.edu	37	2	192701173	192701173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:192701173C>T	uc002utb.2	-	2	1084	c.754G>A	c.(754-756)GAG>AAG	p.E252K		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	252	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCTTTTTCTCGATGTTCTGG	0.423		NaN											0	0	0	0.01441	0	84	186				
DNAH7	56171	broad.mit.edu	37	2	196671502	196671502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:196671502G>C	uc002utj.3	-	54	10239	c.10138C>G	c.(10138-10140)CAA>GAA	p.Q3380E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3380					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCATCCTTTGAAACTCATTT	0.383		NaN											0	0	0	0.004007	0	17	36				
HECW2	57520	broad.mit.edu	37	2	197138838	197138838	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:197138838C>A	uc002utm.1	-	16	3328	c.3145G>T	c.(3145-3147)GAT>TAT	p.D1049Y	HECW2_uc002utl.1_Missense_Mutation_p.D693Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TGTCGAGAATCTTCTCCTACC	0.438		NaN											1	0	0.000219431	0.00245	0.000230006	14	24				
RFTN2	130132	broad.mit.edu	37	2	198508944	198508944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508944C>A	uc002uuo.3	-	3	778	c.376G>T	c.(376-378)GAG>TAG	p.E126*		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	126						plasma membrane					0						GGACATTCCTCAATCACGAGC	0.433		NaN											1	0	6.40141e-05	0.010729	6.74241e-05	10	39				
RFTN2	130132	broad.mit.edu	37	2	198508990	198508990	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508990C>G	uc002uuo.3	-	3	732	c.330G>C	c.(328-330)AAG>AAC	p.K110N		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	110						plasma membrane					0						CTGCCGAATTCTTTGGGCTGT	0.463		NaN											0	0	0	0.004482	0	9	29				
BMPR2	659	broad.mit.edu	37	2	203420028	203420028	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:203420028C>T	uc002uzf.3	+	12	2788	c.1640C>T	c.(1639-1641)TCT>TTT	p.S547F	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	547	Poly-Ser.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CCAGATTATTCTTCCTCCTCA	0.383		NaN											0	0	0	0.00245	0	15	24				
ADAM23	8745	broad.mit.edu	37	2	207310119	207310119	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207310119C>T	uc002vbq.2	+	2	526	c.303C>T	c.(301-303)ATC>ATT	p.I101I	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	101					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCAGTAATATCAGTTACAGCA	0.413		NaN											0	0	0	0.000602	0	5	92				
ADAM23	8745	broad.mit.edu	37	2	207437917	207437917	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207437917C>G	uc002vbq.2	+	18	1958	c.1735C>G	c.(1735-1737)CAG>GAG	p.Q579E	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	579	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGACTCTGGTCAGGTATGGCG	0.284		NaN											0	0	0	0.00632	0	27	63				
CRYGB	1419	broad.mit.edu	37	2	209007482	209007482	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:209007482C>G	uc002vcp.3	-	3	441	c.408G>C	c.(406-408)GAG>GAC	p.E136D		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	136	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGTTGGGCATCTCATAGAGGA	0.542		NaN											0	0	0	0.004289	0	34	81				
STK16	8576	broad.mit.edu	37	2	220112206	220112206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220112206G>C	uc002vko.2	+	5	667	c.510G>C	c.(508-510)ATG>ATC	p.M170I	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.M52I|STK16_uc010zky.1_Missense_Mutation_p.M170I|STK16_uc010fwf.2_Missense_Mutation_p.M170I|STK16_uc002vkp.2_Missense_Mutation_p.M170I|STK16_uc002vkr.2_Missense_Mutation_p.M103I|STK16_uc002vkq.2_Missense_Mutation_p.M215I	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	170	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGTTCCATGAATCAAGCAT	0.507		NaN											0	0	0	0.008361	0	29	143				
INHA	3623	broad.mit.edu	37	2	220437228	220437228	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220437228C>T	uc002vmk.1	+	1	276	c.132C>T	c.(130-132)CCC>CCT	p.P44P	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	44					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCCCCCCGCGGTGACCA	0.687		NaN									OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.001984	0	7	10				
WDR69	164781	broad.mit.edu	37	2	228771965	228771965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:228771965G>C	uc002vpn.1	+	10	1049	c.970G>C	c.(970-972)GAT>CAT	p.D324H	WDR69_uc010zlw.1_Missense_Mutation_p.D309H|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	324	WD 6.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCTTCAGCTGATGGTAGGTG	0.373		NaN											0	0	0	0.000602	0	5	21				
SP100	6672	broad.mit.edu	37	2	231406036	231406036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231406036G>C	uc002vqu.1	+	27	2493	c.2352G>C	c.(2350-2352)TTG>TTC	p.L784F	SP100_uc010fxp.1_Missense_Mutation_p.L102F	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	Error:Variant_position_missing_in_P23497_after_alignment					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCTCCTCTTGAAGGTCTACT	0.388		NaN											0	0	0	0.008291	0	8	45				
CAB39	51719	broad.mit.edu	37	2	231683405	231683405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231683405C>T	uc002vqx.2	+	9	1444	c.1012C>T	c.(1012-1014)CAG>TAG	p.Q338*	CAB39_uc010fxr.2_Nonsense_Mutation_p.Q338*|CAB39_uc010fxq.2_Nonsense_Mutation_p.Q338*|CAB39_uc002vqy.2_Nonsense_Mutation_p.Q93*	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	338					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GAGACCAGCTCAGCAAGAAGC	0.403		NaN											0	0	0	0.004482	0	8	12				
UGT1A3	54659	broad.mit.edu	37	2	234637776	234637776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:234637776G>A	uc002vuy.2	+	1	4	c.4G>A	c.(4-6)GCC>ACC	p.A2T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.A2T	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	2					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCTGAGATGGCCACAGGACT	0.572		NaN									OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	3	72				
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:237103689C>T	uc010znh.1	-	6	1227	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	409	SOCS box.				intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542		NaN											0	0	0	0.001984	0	7	24				
COL6A3	1293	broad.mit.edu	37	2	238262009	238262009	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:238262009C>G	uc002vwl.2	-	25	6950	c.6665G>C	c.(6664-6666)GGA>GCA	p.G2222A	COL6A3_uc002vwo.2_Missense_Mutation_p.G2016A|COL6A3_uc010znj.1_Missense_Mutation_p.G1615A|COL6A3_uc002vwp.1_Missense_Mutation_p.G43A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2222	Triple-helical region.|Collagen-like 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTGCTCTCCCTCAAAGCC	0.478		NaN											0	0	0	0.013537	0	10	44				
KIF1A	547	broad.mit.edu	37	2	241706751	241706751	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:241706751G>C	uc002vzy.2	-	17	1628	c.1482C>G	c.(1480-1482)CTC>CTG	p.L494L	KIF1A_uc010fzk.2_Silent_p.L503L|KIF1A_uc002vzz.1_Silent_p.L503L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	494					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGGTTGACGAGGTGTGGTG	0.607		NaN											0	0	0	0.009096	0	3	19				
C20orf12	55184	broad.mit.edu	37	20	18374906	18374906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:18374906G>C	uc010zsa.1	-	16	1966	c.1757C>G	c.(1756-1758)TCC>TGC	p.S586C	C20orf12_uc010zrz.1_Missense_Mutation_p.S105C|C20orf12_uc002wqp.3_Missense_Mutation_p.S277C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S453C|C20orf12_uc002wqq.3_Missense_Mutation_p.S567C	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	394						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				ACCCCAGCTGGACCTGCTGCC	0.512		NaN											0	0	0	0.008291	0	10	17				
SLC32A1	140679	broad.mit.edu	37	20	37357240	37357240	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:37357240C>G	uc002xjc.2	+	2	1799	c.1536C>G	c.(1534-1536)CTC>CTG	p.L512L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	512	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCACTCCCTCGAGGGCCTCA	0.667		NaN											0	0	0	0.004672	0	3	29				
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:49574949C>G	uc002xvw.1	-	1	112	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	38					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						GGCAGGTTCTCGCGCTCGTTG	0.582		NaN											0	0	0	0.004007	0	16	25				
RBM11	54033	broad.mit.edu	37	21	15588577	15588577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:15588577G>A	uc002yjo.3	+	1	112	c.70G>A	c.(70-72)GAG>AAG	p.E24K	RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_5'UTR	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	24	RRM.						nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTTCGGGAAGAGATTCTGTA	0.612		NaN											0	0	0	0.004672	0	3	24				
TRPM2	7226	broad.mit.edu	37	21	45817728	45817728	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45817728G>A	uc002zet.1	+	14	2244	c.2031G>A	c.(2029-2031)GCG>GCA	p.A677A	TRPM2_uc002zeu.1_Silent_p.A677A|TRPM2_uc002zew.1_Silent_p.A677A|TRPM2_uc010gpt.1_Silent_p.A677A|TRPM2_uc002zex.1_Silent_p.A463A|TRPM2_uc002zey.1_Silent_p.A190A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	677	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGATGCTGGCGCTGGCGGAGG	0.642		NaN											0	0	0	0.006214	0	10	20				
LRRC3	81543	broad.mit.edu	37	21	45876666	45876666	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45876666G>A	uc002zfa.2	+	2	432	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	47	LRRNT.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		AGGGGCTGTGGCTGTCTTCTG	0.667		NaN											0	0	0	0.001984	0	7	34				
CYTSA	23384	broad.mit.edu	37	22	24759250	24759250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:24759250C>A	uc002zzw.2	+	12	3072	c.2765C>A	c.(2764-2766)TCA>TAA	p.S922*	CYTSA_uc002zzv.3_Nonsense_Mutation_p.S922*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S922*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	922					cell cycle|cell division						0						AGAACATCTTCAGCCAGCCGG	0.403		NaN											1	0	1.5739e-10	0.004007	1.69887e-10	16	16				
RFPL1	5988	broad.mit.edu	37	22	29834919	29834919	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29834919C>G	uc003afn.2	+	1	348	c.139C>G	c.(139-141)CTA>GTA	p.L47V	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	47	RING-type.						zinc ion binding				0						CTCAGACTATCTAGAGAAACC	0.517		NaN											0	0	0	0.001855	0	14	74				
RFPL1	5988	broad.mit.edu	37	22	29835036	29835036	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29835036C>G	uc003afn.2	+	1	465	c.256C>G	c.(256-258)CAG>GAG	p.Q86E	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	86							zinc ion binding				0						CATGGTCTCTCAGAAGAACAA	0.522		NaN											0	0	0	0.010729	0	9	111				
OSBP2	23762	broad.mit.edu	37	22	31289134	31289134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:31289134C>T	uc003aiy.1	+	9	1999	c.1895C>T	c.(1894-1896)GCG>GTG	p.A632V	OSBP2_uc011ala.1_Missense_Mutation_p.A466V|OSBP2_uc010gwc.1_Missense_Mutation_p.A459V|OSBP2_uc011alb.1_Missense_Mutation_p.A583V|OSBP2_uc003aiz.1_Missense_Mutation_p.A631V|OSBP2_uc003aja.1_Missense_Mutation_p.A265V|OSBP2_uc011alc.1_Missense_Mutation_p.A374V|OSBP2_uc003ajb.2_Missense_Mutation_p.A177V|OSBP2_uc011ald.1_Missense_Mutation_p.A176V|OSBP2_uc010gwd.1_Missense_Mutation_p.A177V	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	632					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCCTCAGCTGCGCACTACGTG	0.592		NaN											0	0	0	0.000602	0	5	27				
GGA1	26088	broad.mit.edu	37	22	38021890	38021890	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:38021890G>A	uc003atc.2	+	11	1392	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.E343K|GGA1_uc003atf.2_Missense_Mutation_p.E270K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	343	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CCGCCCTGGCGAGCAGGCCAG	0.687		NaN											0	0	0	0.013537	0	12	43				
CELSR1	9620	broad.mit.edu	37	22	46929664	46929664	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:46929664G>C	uc003bhw.1	-	1	3404	c.3404C>G	c.(3403-3405)TCA>TGA	p.S1135*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1135	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGCTGTCTGACACGTCGGG	0.617		NaN											0	0	0	0.001984	0	6	75				
C3orf24	115795	broad.mit.edu	37	3	10146259	10146259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:10146259C>T	uc003buz.2	-	2	425	c.200G>A	c.(199-201)GGA>GAA	p.G67E	C3orf24_uc003bva.1_Missense_Mutation_p.G67E	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	67											0				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GGGACTCACTCCAGATTCCAG	0.557		NaN											0	0	0	0.001855	0	14	49				
ANKRD28	23243	broad.mit.edu	37	3	15726759	15726759	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:15726759G>A	uc003caj.1	-	21	2416	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M	ANKRD28_uc003cai.1_Missense_Mutation_p.T604M|ANKRD28_uc011avz.1_Missense_Mutation_p.T604M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T788M|ANKRD28_uc003cam.2_Missense_Mutation_p.T791M	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	758	ANK 22.					nucleoplasm	protein binding			breast(1)	1						GTGAAGTGCCGTATATCCATG	0.423		NaN											0	0	0	0.009096	0	4	162				
TRANK1	9881	broad.mit.edu	37	3	36874249	36874249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:36874249C>G	uc003cgj.2	-	12	5345	c.5043G>C	c.(5041-5043)AAG>AAC	p.K1681N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2231					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GATGGAAATGCTTAGGGAAAA	0.378		NaN											0	0	0	0.012213	0	32	57				
SETD2	29072	broad.mit.edu	37	3	47162371	47162371	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47162371G>A	uc003cqs.2	-	3	3808	c.3755C>T	c.(3754-3756)TCA>TTA	p.S1252L	SETD2_uc003cqv.2_Missense_Mutation_p.S1241L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGCTCTTCTGATGAGTGCAA	0.453		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.008291	0	11	86		Valid		
PTPN23	25930	broad.mit.edu	37	3	47447452	47447452	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47447452C>T	uc003crf.1	+	6	558	c.462C>T	c.(460-462)TTC>TTT	p.F154F	PTPN23_uc011baw.1_Silent_p.F119F|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.F24F	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	154	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGGCGCCTTCGCCTACCTAC	0.612		NaN											0	0	0	0.001984	0	7	22				
CELSR3	1951	broad.mit.edu	37	3	48698212	48698212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:48698212C>T	uc003cul.2	-	1	2137	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	CELSR3_uc003cuf.1_Missense_Mutation_p.R689H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	619	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCTGATGCGCAAGGCATA	0.587		NaN											0	0	0	0.001168	0	6	25				
STAB1	23166	broad.mit.edu	37	3	52554987	52554987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:52554987C>A	uc003dej.2	+	55	5948	c.5874C>A	c.(5872-5874)AGC>AGA	p.S1958R	STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1958	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGAAGCCCAGCTGCTGCCCTG	0.617		NaN											1	0	3.07112e-06	0.010729	3.25838e-06	12	17				
MYH15	22989	broad.mit.edu	37	3	108179195	108179195	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:108179195C>G	uc003dxa.1	-	18	2001	c.1944G>C	c.(1942-1944)AAG>AAC	p.K648N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	648	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCTTTCGTTTCTTCTCCCCAA	0.269		NaN											0	0	0	0.004672	0	3	15				
POLQ	10721	broad.mit.edu	37	3	121208086	121208086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:121208086G>C	uc003eee.3	-	16	3821	c.3692C>G	c.(3691-3693)TCA>TGA	p.S1231*	POLQ_uc003eed.2_Nonsense_Mutation_p.S403*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1231					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AGTAACATTTGAGTCTCTATT	0.333		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.012213	0	33	134				
KALRN	8997	broad.mit.edu	37	3	124066028	124066028	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124066028C>A	uc003ehg.2	+	10	1807	c.1680C>A	c.(1678-1680)CTC>CTA	p.L560L	KALRN_uc010hrv.1_Silent_p.L560L|KALRN_uc003ehf.1_Silent_p.L560L|KALRN_uc011bjy.1_Silent_p.L560L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	560	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGGCCTTTCTCAGCAAACACA	0.478		NaN											1	0	6.2361e-21	0.007835	6.81584e-21	36	141				
KALRN	8997	broad.mit.edu	37	3	124174160	124174160	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124174160G>C	uc003ehg.2	+	22	3810	c.3683G>C	c.(3682-3684)GGA>GCA	p.G1228A	KALRN_uc010hrv.1_Missense_Mutation_p.G1219A|KALRN_uc003ehf.1_Missense_Mutation_p.G1228A|KALRN_uc011bjy.1_Missense_Mutation_p.G1219A|KALRN_uc003ehh.1_Missense_Mutation_p.G574A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1228					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTGAGGATGGGAAAGTACCGA	0.522		NaN											0	0	0	0.013537	0	12	79				
PPP2R3A	5523	broad.mit.edu	37	3	135721778	135721778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:135721778C>G	uc003eqv.1	+	2	2003	c.1438C>G	c.(1438-1440)CTA>GTA	p.L480V	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	480					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ATTTGTTAATCTACCTAAGGA	0.338		NaN											0	0	0	0.008291	0	11	58				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.003163	0	16	67		Valid		
FXR1	8087	broad.mit.edu	37	3	180693957	180693957	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:180693957C>T	uc003fkq.2	+	17	1765	c.1743C>T	c.(1741-1743)AAC>AAT	p.N581N	FXR1_uc003fkp.2_Silent_p.N496N|FXR1_uc003fkr.2_3'UTR|FXR1_uc011bqj.1_3'UTR|FXR1_uc003fks.2_Silent_p.N524N|FXR1_uc011bqk.1_3'UTR|FXR1_uc011bql.1_Silent_p.N568N	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	581					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGGCAATAAACGGCCCAACTA	0.393		NaN											0	0	0	0.00499	0	18	44				
MAP3K13	9175	broad.mit.edu	37	3	185191526	185191526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:185191526C>T	uc010hyf.2	+	12	2673	c.2407C>T	c.(2407-2409)CGA>TGA	p.R803*	MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493*	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	803					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCGCTACCTCGAAAAACAAG	0.507		NaN											0	0	0	0.001855	0	11	213				
PPP2R2C	5522	broad.mit.edu	37	4	6335373	6335373	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:6335373G>A	uc003gjc.2	-	7	1246	c.876C>T	c.(874-876)AGC>AGT	p.S292S	PPP2R2C_uc003gjb.2_Silent_p.S275S|PPP2R2C_uc011bwd.1_Silent_p.S285S|PPP2R2C_uc011bwe.1_Silent_p.S285S|PPP2R2C_uc003gja.2_Silent_p.S292S|PPP2R2C_uc003gjd.1_Silent_p.S380S	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	292	WD 5.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGTAGCGGCCGCTGTGGCTGA	0.562		NaN									OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	19	82				
PGM2	55276	broad.mit.edu	37	4	37848724	37848724	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:37848724C>T	uc011byb.1	+	9	1253	c.1180C>T	c.(1180-1182)CAT>TAT	p.H394Y	PGM2_uc011bya.1_Missense_Mutation_p.H255Y|PGM2_uc011byc.1_Missense_Mutation_p.H234Y	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	394					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						GGAAGGTTTTCATTTTGAGGT	0.448		NaN											0	0	0	0.007291	0	28	79				
TBC1D1	23216	broad.mit.edu	37	4	38022296	38022296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:38022296C>T	uc003gtb.2	+	5	1400	c.1057C>T	c.(1057-1059)CAG>TAG	p.Q353*	TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q353*|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q224*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	353	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						TTACGTGTTTCAGTGCACAAA	0.478		NaN											0	0	0	0.003755	0	36	130				
KLB	152831	broad.mit.edu	37	4	39448977	39448977	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:39448977G>C	uc003gua.2	+	4	2728	c.2631G>C	c.(2629-2631)CGG>CGC	p.R877R	KLB_uc011byj.1_Silent_p.R868R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	877	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GGTGGGTCCGGAGGAACTACG	0.622		NaN											0	0	0	0.008871	0	20	73				
GUF1	60558	broad.mit.edu	37	4	44680684	44680684	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:44680684C>T	uc003gww.3	+	1	252	c.45C>T	c.(43-45)CTC>CTT	p.L15L	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	15					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						CACGCGCTCTCGCGCCACGAG	0.736		NaN											0	0	0	0.004672	0	3	9				
SCFD2	152579	broad.mit.edu	37	4	53751964	53751964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:53751964C>T	uc003gzu.2	-	8	2046	c.1912G>A	c.(1912-1914)GAA>AAA	p.E638K	SCFD2_uc010igm.2_Missense_Mutation_p.E593K	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	638					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATTTTCACTTCAGAGACTGTG	0.498		NaN											0	0	0	0.003163	0	15	42				
SMR3A	26952	broad.mit.edu	37	4	71232491	71232491	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:71232491G>C	uc003hfg.1	+	3	266	c.185G>C	c.(184-186)AGA>ACA	p.R62T	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	62	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				GGTCCAGGGAGATTTCCACCA	0.547		NaN											0	0	0	0.000602	0	5	97				
ADAMTS3	9508	broad.mit.edu	37	4	73169687	73169687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:73169687C>T	uc003hgk.1	-	17	2408	c.2371G>A	c.(2371-2373)GAC>AAC	p.D791N	ADAMTS3_uc003hgl.2_Missense_Mutation_p.D132N	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	791	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTCAATGTCATCTTCAATG	0.423		NaN											0	0	0	0.008871	0	21	97				
C4orf22	255119	broad.mit.edu	37	4	81283911	81283911	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:81283911G>A	uc003hmf.2	+	2	164	c.115G>A	c.(115-117)GAA>AAA	p.E39K	C4orf22_uc010ijp.2_Missense_Mutation_p.E39K	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	39										skin(2)	2						TCTCTAGGATGAAACCCTGGC	0.433		NaN											0	0	0	0.004656	0	24	110				
ANK2	287	broad.mit.edu	37	4	114275389	114275389	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:114275389C>T	uc003ibe.3	+	38	5715	c.5615C>T	c.(5614-5616)TCG>TTG	p.S1872L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1887L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1839	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGTCATCATCGAGTAAAACT	0.453		NaN											0	0	0	0.003271	0	34	107				
GUCY1A3	2982	broad.mit.edu	37	4	156634390	156634390	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:156634390G>A	uc003iov.2	+	8	1763	c.1227G>A	c.(1225-1227)CTG>CTA	p.L409L	GUCY1A3_uc010iqc.2_Silent_p.L409L|GUCY1A3_uc003iow.2_Silent_p.L409L|GUCY1A3_uc010iqd.2_Silent_p.L408L|GUCY1A3_uc003iox.2_Silent_p.L409L|GUCY1A3_uc003ioz.2_Silent_p.L174L|GUCY1A3_uc003ioy.2_Silent_p.L409L|GUCY1A3_uc010iqe.2_Silent_p.L174L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.L409L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	409					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAATGCACTGAGGGATGTGG	0.522		NaN											0	0	0	0.010729	0	12	29				
ADCY2	108	broad.mit.edu	37	5	7743786	7743786	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:7743786C>T	uc003jdz.1	+	15	1944	c.1877C>T	c.(1876-1878)TCC>TTC	p.S626F	ADCY2_uc011cmo.1_Missense_Mutation_p.S446F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	626					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGTAGAACGTCCGTCCTGGGC	0.493		NaN											0	0	0	0.013114	0	42	194				
PRDM9	56979	broad.mit.edu	37	5	23521274	23521274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:23521274C>G	uc003jgo.2	+	6	676	c.494C>G	c.(493-495)TCA>TGA	p.S165*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	165					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGACAGCACTCAAGACTAAAA	0.453		NaN								HNSCC(3;0.000094)			0	0	0	0.001855	0	14	69				
ANKRA2	57763	broad.mit.edu	37	5	72856967	72856967	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:72856967G>C	uc003kcu.1	-	3	1082	c.436C>G	c.(436-438)CTG>GTG	p.L146V	ANKRA2_uc003kcv.2_Missense_Mutation_p.L146V	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	146						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTTGCTAACAGAGGTGTGGTA	0.343		NaN											0	0	0	0.00245	0	11	34				
RASGRF2	5924	broad.mit.edu	37	5	80369170	80369170	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:80369170C>T	uc003kha.1	+	5	786	c.786C>T	c.(784-786)CTC>CTT	p.L262L	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.L90L	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	262	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCACCAGCTCTACATCCTGG	0.512		NaN											0	0	0	0.008291	0	9	43				
MCC	4163	broad.mit.edu	37	5	112363128	112363128	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:112363128C>T	uc003kqj.3	-	17	2891	c.2361G>A	c.(2359-2361)CTG>CTA	p.L787L	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.L977L	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	787					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAACTTCTTCAGTTTGTTTT	0.448		NaN											0	0	0	0.001984	0	6	82				
ISOC1	51015	broad.mit.edu	37	5	128440990	128440990	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:128440990C>T	uc003kva.2	+	3	560	c.542C>T	c.(541-543)CCA>CTA	p.P181L		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	181						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CTGGTACTTCCAAAGACCAAG	0.398		NaN											0	0	0	0.004482	0	9	25				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876702	139876702	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:139876702C>G	uc003lfs.1	+	15	2967	c.2843C>G	c.(2842-2844)TCT>TGT	p.S948C	ANKHD1_uc003lfq.1_Missense_Mutation_p.S967C|ANKHD1_uc003lfr.2_Missense_Mutation_p.S948C|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.S428C|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	948						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAAATTCTCTTGAACTT	0.428		NaN											0	0	0	0.009096	0	4	84				
PCDHGC4	56098	broad.mit.edu	37	5	140865104	140865104	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:140865104G>C	uc003lky.1	+	1	364	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E122Q	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	122	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGGTAGAGATCGTAGA	0.582		NaN											0	0	0	0.00308	0	5	83				
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:141336615C>T	uc003llx.2	-	1	2013	c.802G>A	c.(802-804)GCC>ACC	p.A268T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	268	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527		NaN											0	0	0	0.004656	0	25	35				
TCOF1	6949	broad.mit.edu	37	5	149758896	149758896	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:149758896G>A	uc003lry.2	+	16	2691	c.2583G>A	c.(2581-2583)CAG>CAA	p.Q861Q	TCOF1_uc003lrw.2_Silent_p.Q861Q|TCOF1_uc011dch.1_Silent_p.Q861Q|TCOF1_uc003lrz.2_Silent_p.Q861Q|TCOF1_uc003lrx.2_Silent_p.Q784Q|TCOF1_uc003lsa.2_Silent_p.Q784Q|TCOF1_uc011dci.1_Intron	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	861					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCCCAGACAGGGCCAG	0.627		NaN											0	0	0	0.00278	0	25	37				
FAT2	2196	broad.mit.edu	37	5	150925577	150925577	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:150925577G>C	uc003lue.3	-	9	5124	c.5111C>G	c.(5110-5112)TCT>TGT	p.S1704C	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1704	Cadherin 15.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTCATAGAGAAGACTCC	0.448		NaN											0	0	0	0.003755	0	36	47				
ODZ2	57451	broad.mit.edu	37	5	167626878	167626878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167626878G>A	uc010jjd.2	+	17	3145	c.3145G>A	c.(3145-3147)GAA>AAA	p.E1049K	ODZ2_uc003lzr.3_Missense_Mutation_p.E826K|ODZ2_uc003lzt.3_Missense_Mutation_p.E422K|ODZ2_uc010jje.2_Missense_Mutation_p.E320K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGTTCTTCATGAAGAAATCGA	0.488		NaN											0	0	0	0.01441	0	79	118				
ODZ2	57451	broad.mit.edu	37	5	167673915	167673915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167673915G>A	uc010jjd.2	+	27	5944	c.5944G>A	c.(5944-5946)GAA>AAA	p.E1982K	ODZ2_uc003lzr.3_Missense_Mutation_p.E1752K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1355K|ODZ2_uc010jje.2_Missense_Mutation_p.E1246K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAACCCGCCTGAAAGCAATGC	0.557		NaN											0	0	0	0.008871	0	21	82				
FAF2	23197	broad.mit.edu	37	5	175921066	175921066	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:175921066G>T	uc003mej.3	+	6	603	c.550G>T	c.(550-552)GAC>TAC	p.D184Y		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	184					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TGATCACCAGGACTCTGATGA	0.398		NaN											1	0	7.26314e-15	0.007291	7.89867e-15	28	62				
DSP	1832	broad.mit.edu	37	6	7578018	7578018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7578018G>C	uc003mxp.1	+	21	3163	c.2884G>C	c.(2884-2886)GAG>CAG	p.E962Q	DSP_uc003mxq.1_Missense_Mutation_p.E962Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	962	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGATTATGAGCTCCAGCT	0.438		NaN											0	0	0	0.000602	0	5	93				
SNRNP48	154007	broad.mit.edu	37	6	7602962	7602962	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7602962G>C	uc003mxr.2	+	6	761	c.702G>C	c.(700-702)AAG>AAC	p.K234N	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	234					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						ACATAACCAAGAAATCATATA	0.338		NaN											0	0	0	0.006214	0	9	27				
PHACTR1	221692	broad.mit.edu	37	6	13182823	13182823	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182823C>T	uc010jpc.2	+	7	901	c.569C>T	c.(568-570)TCT>TTT	p.S190F	PHACTR1_uc011dir.1_Missense_Mutation_p.S190F|PHACTR1_uc003nag.1_Missense_Mutation_p.S190F|PHACTR1_uc003nah.1_Missense_Mutation_p.S190F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	190						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGCCAGCTGTCTCTGCCTGCC	0.537		NaN											0	0	0	0.009096	0	4	234				
PHACTR1	221692	broad.mit.edu	37	6	13182825	13182825	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182825C>T	uc010jpc.2	+	7	903	c.571C>T	c.(571-573)CTG>TTG	p.L191L	PHACTR1_uc011dir.1_Silent_p.L191L|PHACTR1_uc003nag.1_Silent_p.L191L|PHACTR1_uc003nah.1_Silent_p.L191L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	191						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCAGCTGTCTCTGCCTGCCCT	0.542		NaN											0	0	0	0.009096	0	4	228				
MBOAT1	154141	broad.mit.edu	37	6	20126922	20126922	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:20126922G>A	uc003ncx.1	-	7	745	c.540C>T	c.(538-540)CCC>CCT	p.P180P	MBOAT1_uc011dji.1_Silent_p.P31P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	180	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCAAAAAAGAGGGTTTCACTC	0.338		NaN									OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	209				
HIST1H1E	3008	broad.mit.edu	37	6	26156619	26156619	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26156619A>T	uc003ngq.2	+	1	61	c.1A>T	c.(1-3)ATG>TTG	p.M1L	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	1					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						TGCCTTCAACATGTCCGAGAC	0.672		NaN											0	0	0	0.001168	0	5	197				
BTN3A1	11119	broad.mit.edu	37	6	26407948	26407948	+	Silent	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26407948G>T	uc003nhv.2	+	4	851	c.483G>T	c.(481-483)GGG>GGT	p.G161G	BTN3A1_uc011dkj.1_Silent_p.G161G|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Silent_p.G161G	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	161	Ig-like V-type 2.|Extracellular (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGGATGGAGGGATCCATCTGG	0.488		NaN											1	0	1.12685e-05	0.004482	1.18976e-05	9	118				
C6orf15	29113	broad.mit.edu	37	6	31079483	31079483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:31079483C>T	uc003nsk.1	-	2	653	c.653G>A	c.(652-654)TGG>TAG	p.W218*		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	218											0						TCCACCTCCCCAGGACACACT	0.612		NaN											0	0	0	0.004482	0	8	98				
UHRF1BP1	54887	broad.mit.edu	37	6	34802629	34802629	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:34802629C>G	uc003oju.3	+	6	894	c.660C>G	c.(658-660)CTC>CTG	p.L220L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	220										ovary(3)	3						AAATAGCCCTCAAAAGAAGAG	0.438		NaN											0	0	0	0.009096	0	3	73				
DNAH8	1769	broad.mit.edu	37	6	38783350	38783350	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:38783350G>A	uc003ooe.1	+	24	3389	c.2789G>A	c.(2788-2790)CGT>CAT	p.R930H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAGCAAATCCGTCCCATCAAG	0.463		NaN											0	0	0	0.000602	0	5	32				
GUCA1A	2978	broad.mit.edu	37	6	42146056	42146056	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:42146056C>A	uc003orx.2	+	4	885	c.240C>A	c.(238-240)CTC>CTA	p.L80L	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.L80L	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	80	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCAGCGCTCAGCTTGGTCC	0.622		NaN											1	0	2.12542e-12	0.00632	2.30563e-12	28	111				
GPR110	266977	broad.mit.edu	37	6	46977428	46977428	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977428G>C	uc003oyt.2	-	11	1942	c.1743C>G	c.(1741-1743)ATC>ATG	p.I581M	GPR110_uc011dwl.1_Missense_Mutation_p.I269M	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	581	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						CAACGGGGAAGATTGTAGAGG	0.438		NaN											0	0	0	0.013537	0	13	54				
GPR110	266977	broad.mit.edu	37	6	46977848	46977848	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977848G>A	uc003oyt.2	-	11	1522	c.1323C>T	c.(1321-1323)CTC>CTT	p.L441L	GPR110_uc011dwl.1_Silent_p.L129L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	441	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						AACCCCTTTTGAGTTGGCTTT	0.438		NaN											0	0	0	0.008291	0	10	70				
PHF3	23469	broad.mit.edu	37	6	64421841	64421841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:64421841C>T	uc003pep.1	+	15	4383	c.4357C>T	c.(4357-4359)CAA>TAA	p.Q1453*	PHF3_uc003pen.2_Nonsense_Mutation_p.Q1365*|PHF3_uc011dxs.1_Nonsense_Mutation_p.Q722*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1453					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTGGGAGAATCAACCTACTAC	0.448		NaN											0	0	0	0.00499	0	17	53				
IBTK	25998	broad.mit.edu	37	6	82891624	82891624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:82891624C>G	uc003pjl.1	-	26	4224	c.3697G>C	c.(3697-3699)GAA>CAA	p.E1233Q	IBTK_uc011dyu.1_Missense_Mutation_p.E184Q|IBTK_uc011dyv.1_Missense_Mutation_p.E1218Q|IBTK_uc011dyw.1_Missense_Mutation_p.E1032Q|IBTK_uc010kbi.1_Missense_Mutation_p.E927Q	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1233					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAGAATTTTCAATTCCTTTA	0.308		NaN											0	0	0	0.004672	0	3	27				
KIAA1009	22832	broad.mit.edu	37	6	84925148	84925148	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:84925148C>T	uc010kbp.2	-	5	452	c.355G>A	c.(355-357)GGA>AGA	p.G119R	KIAA1009_uc003pkj.3_Missense_Mutation_p.G43R|KIAA1009_uc003pkk.2_Missense_Mutation_p.G119R	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	119					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AATCCCACTCCGAGACTACTA	0.333		NaN											0	0	0	0.001984	0	5	18				
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:88299660G>A	uc003pme.2	-	1	76	c.16C>T	c.(16-18)CGC>TGC	p.R6C	ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672		NaN									OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.004007	0	15	33				
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:112476811C>T	uc003pvu.2	-	15	2224	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	639	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388		NaN											0	0	0	0.010729	0	10	61				
C6orf174	387104	broad.mit.edu	37	6	127836879	127836879	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:127836879G>C	uc003qbd.2	-	2	1746	c.881C>G	c.(880-882)TCT>TGT	p.S294C		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	294						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGGGGGGCCAGACACCGGGGA	0.741		NaN											0	0	0	0.009096	0	4	23				
MED23	9439	broad.mit.edu	37	6	131927625	131927625	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:131927625T>C	uc003qcs.1	-	13	1535	c.1361A>G	c.(1360-1362)CAC>CGC	p.H454R	MED23_uc003qcq.2_Missense_Mutation_p.H460R|MED23_uc011eca.1_Missense_Mutation_p.H95R|MED23_uc003qct.1_Missense_Mutation_p.H460R|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	454					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTACTCATGGTGAAGTCTTAG	0.348		NaN											0	0	0	0.008291	0	8	36				
CNKSR3	154043	broad.mit.edu	37	6	154754641	154754641	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:154754641C>G	uc003qpy.2	-	5	1013	c.508G>C	c.(508-510)GAT>CAT	p.D170H		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	170	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACAAAGCAATCCTAAAGAAGG	0.368		NaN											0	0	0	0.004672	0	3	7				
MAD1L1	8379	broad.mit.edu	37	7	2269702	2269702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:2269702G>A	uc003slh.1	-	3	333	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.Q23*	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	23					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCACACGCTGAGAGATGAAG	0.532		NaN											0	0	0	0.001168	0	6	12				
AIMP2	7965	broad.mit.edu	37	7	6054965	6054965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:6054965G>C	uc003spo.2	+	2	437	c.324G>C	c.(322-324)TTG>TTC	p.L108F		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	108	Interaction with PARK2.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CGCTGGACTTGAATTCAGTGC	0.458		NaN											0	0	0	0.008291	0	11	48				
DNAH11	8701	broad.mit.edu	37	7	21603941	21603941	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:21603941C>G	uc003svc.2	+	6	1151	c.1120C>G	c.(1120-1122)CAT>GAT	p.H374D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	374	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATCTGGAGTCATTCCAAGTT	0.413		NaN							Kartagener_syndrome				0	0	0	0.001984	0	7	41				
GLI3	2737	broad.mit.edu	37	7	42187951	42187951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:42187951C>T	uc011kbh.1	-	3	332	c.241G>A	c.(241-243)GAG>AAG	p.E81K	GLI3_uc011kbg.1_Missense_Mutation_p.E22K	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	81					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GAGGCCCTCTCGTCACTCGAT	0.552		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.001168	0	6	36				
PKD1L1	168507	broad.mit.edu	37	7	47876633	47876633	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:47876633G>A	uc003tny.1	-	37	5829	c.5829C>T	c.(5827-5829)TAC>TAT	p.Y1943Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1943	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGGGCCTGCTGTACACCGACA	0.577		NaN											0	0	0	0.009096	0	3	43				
ZNF273	10793	broad.mit.edu	37	7	64363703	64363703	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:64363703C>T	uc003tto.2	+	1	84	c.8C>T	c.(7-9)TCT>TTT	p.S3F	ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTATGTCCTCTGCTCCTAGA	0.592		NaN											0	0	0	0.013537	0	13	37				
DNAJC30	84277	broad.mit.edu	37	7	73097498	73097498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:73097498C>T	uc003tys.1	-	1	284	c.256G>A	c.(256-258)GAG>AAG	p.E86K	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	86	J.				protein folding		heat shock protein binding|unfolded protein binding				0						TCGGCGGCCTCCGCGCTCCCG	0.662		NaN											0	0	0	0.008871	0	20	70				
PCLO	27445	broad.mit.edu	37	7	82544005	82544005	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:82544005C>G	uc003uhx.2	-	7	13586	c.13297G>C	c.(13297-13299)GAA>CAA	p.E4433Q	PCLO_uc003uhv.2_Missense_Mutation_p.E4433Q|PCLO_uc010lec.2_Missense_Mutation_p.E1398Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4364					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATTTACCTTCACTGTCTGAC	0.418		NaN											0	0	0	0.000602	0	5	20				
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:90741917G>C	uc003uky.2	+	13	1437	c.1215G>C	c.(1213-1215)AAG>AAC	p.K405N	CDK14_uc003ukz.1_Missense_Mutation_p.K387N|CDK14_uc010les.1_Missense_Mutation_p.K359N|CDK14_uc011khl.1_Missense_Mutation_p.K276N	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GTTCCCCAAAGAACAGACTGT	0.502		NaN											0	0	0	0.009096	0	4	112				
PTCD1	26024	broad.mit.edu	37	7	99057790	99057790	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:99057790C>G	uc011kiw.1	-	2	84	c.40G>C	c.(40-42)GAG>CAG	p.E14Q	ATP5J2_uc003uql.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqm.2_Missense_Mutation_p.E20Q|ATP5J2_uc003uqn.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqo.2_Missense_Mutation_p.E20Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	Error:Variant_position_missing_in_O75127_after_alignment										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGTTTGACCTCCAGAAGTTTC	0.483		NaN											0	0	0	0.009535	0	30	157				
RELN	5649	broad.mit.edu	37	7	103322663	103322663	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:103322663C>T	uc003vca.2	-	11	1349	c.1189G>A	c.(1189-1191)GAA>AAA	p.E397K	RELN_uc010liz.2_Missense_Mutation_p.E397K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	397					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGCTGCCTTCATTTCCATGG	0.458		NaN											0	0	0	0.001984	0	4	88				
SLC26A3	1811	broad.mit.edu	37	7	107408296	107408296	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:107408296G>A	uc003ver.2	-	19	2331	c.2120C>T	c.(2119-2121)TCA>TTA	p.S707L	SLC26A3_uc003ves.2_Missense_Mutation_p.S594L	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	707	Helical; (Potential).|STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						GAAAAATATTGAGCTTTTCAC	0.323		NaN											0	0	0	0.00308	0	8	26				
PPP1R3A	5506	broad.mit.edu	37	7	113558970	113558970	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:113558970C>T	uc010ljy.1	-	1	113	c.82G>A	c.(82-84)GAT>AAT	p.D28N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	28					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ACTTCTTCATCTTCACAAAGA	0.398		NaN											0	0	0	0.014323	0	21	56				
TES	26136	broad.mit.edu	37	7	115890320	115890320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:115890320G>A	uc003vho.2	+	4	653	c.472G>A	c.(472-474)GAC>AAC	p.D158N	TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.D149N|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	158	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CCCTGCACATGACCAGGACCC	0.532		NaN											0	0	0	0.004482	0	9	53				
TAS2R16	50833	broad.mit.edu	37	7	122635437	122635437	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:122635437G>A	uc003vkl.1	-	1	318	c.252C>T	c.(250-252)ACC>ACT	p.T84T		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	84	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						AAAATTCCCAGGTGATTGTTA	0.398		NaN											0	0	0	0.001984	0	7	30				
NRF1	4899	broad.mit.edu	37	7	129394931	129394931	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:129394931G>A	uc003voz.2	+	11	1539	c.1422G>A	c.(1420-1422)CAG>CAA	p.Q474Q	NRF1_uc003vpa.2_Silent_p.Q493Q|NRF1_uc011kpa.1_Silent_p.Q313Q|NRF1_uc003vpb.2_Silent_p.Q474Q	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	474	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GACCAGTGCAGGTGGCCATGG	0.592		NaN											0	0	0	0.006214	0	10	42				
CLCN1	1180	broad.mit.edu	37	7	143039095	143039095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:143039095G>C	uc003wcr.1	+	15	1743	c.1656G>C	c.(1654-1656)CAG>CAC	p.Q552H	CLCN1_uc011ktc.1_Missense_Mutation_p.Q164H	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	552			Q -> R (in THD, MCR and in myotonia levior).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					TAACGGGTCAGATTGCTCACA	0.532		NaN											0	0	0	0.00333	0	23	45				
SGK223	157285	broad.mit.edu	37	8	8175696	8175697	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:8175696_8175697TC>AT	uc003wsh.3	-	5	4188_4189	c.4188_4189GA>AT	c.(4186-4191)CTGAAG>CTATAG	p.K1397*		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1397							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGCAGGAGCTTCAGCGACTGTA	0.658		NaN											0	0	0	0.004672	0	8	29				
SLC7A2	6542	broad.mit.edu	37	8	17401171	17401171	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:17401171G>C	uc011kyc.1	+	2	492	c.323G>C	c.(322-324)GGA>GCA	p.G108A	SLC7A2_uc011kyd.1_Missense_Mutation_p.G148A|SLC7A2_uc011kye.1_Missense_Mutation_p.G148A|SLC7A2_uc011kyf.1_Missense_Mutation_p.G108A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	108	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGACTGTCGGAGAGCTGTGG	0.493		NaN											0	0	0	0.008871	0	18	28				
KCNU1	157855	broad.mit.edu	37	8	36642013	36642013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:36642013C>T	uc010lvw.2	+	1	172	c.85C>T	c.(85-87)CTC>TTC	p.L29F	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	29	Helical; Name=Segment S0; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTCATTCTCTCTTCCTT	0.423		NaN											0	0	0	0.000602	0	5	37				
RAB11FIP1	80223	broad.mit.edu	37	8	37729403	37729403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729403C>G	uc003xkm.1	-	4	2961	c.2917G>C	c.(2917-2919)GAT>CAT	p.D973H	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	973					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAACCTGATCTATTCTTTCA	0.458		NaN											0	0	0	0.006214	0	10	67				
RAB11FIP1	80223	broad.mit.edu	37	8	37729766	37729766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729766C>G	uc003xkm.1	-	4	2598	c.2554G>C	c.(2554-2556)GAG>CAG	p.E852Q	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	852					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAGGAGGCTCTCCGTCAGAC	0.637		NaN											0	0	0	0.006214	0	7	40				
RAB11FIP1	80223	broad.mit.edu	37	8	37730228	37730228	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37730228C>G	uc003xkm.1	-	4	2136	c.2092G>C	c.(2092-2094)GAA>CAA	p.E698Q	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	698					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCCCTGTTTCAGGCTGCTCT	0.527		NaN											0	0	0	0.010729	0	11	43				
ADAM2	2515	broad.mit.edu	37	8	39613416	39613416	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:39613416C>G	uc003xnj.2	-	16	1703	c.1628G>C	c.(1627-1629)GGA>GCA	p.G543A	ADAM2_uc003xnk.2_Missense_Mutation_p.G524A|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	543	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATTAATTTTCCGCACTGCAG	0.244		NaN											0	0	0	0.00308	0	8	54				
RUNX1T1	862	broad.mit.edu	37	8	92972521	92972521	+	Silent	SNP	C	C	T	rs144186445		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:92972521C>T	uc003yfd.2	-	11	1848	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	RUNX1T1_uc003yfc.1_Silent_p.P561P|RUNX1T1_uc003yfe.1_Silent_p.P551P|RUNX1T1_uc010mao.2_Silent_p.P561P|RUNX1T1_uc011lgi.1_Silent_p.P599P|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.P213P|RUNX1T1_uc003yfb.1_Silent_p.P551P	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	588					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGTTGACCTCGGAGTGGCTG	0.612		NaN											0	0	0	0.009096	0	4	12				
FBXO43	286151	broad.mit.edu	37	8	101149855	101149855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:101149855G>C	uc003yjd.2	-	3	2325	c.1612C>G	c.(1612-1614)CAA>GAA	p.Q538E	FBXO43_uc003yje.2_Missense_Mutation_p.Q504E|FBXO43_uc010mbp.1_Missense_Mutation_p.Q538E	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	538	F-box.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTTATCTTGAACAACAATT	0.299		NaN											0	0	0	0.004007	0	15	28				
ABRA	137735	broad.mit.edu	37	8	107782327	107782327	+	Missense_Mutation	SNP	C	C	G	rs148182297		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:107782327C>G	uc003ymm.3	-	1	146	c.92G>C	c.(91-93)CGA>CCA	p.R31P		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	31					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGCCAACCTCGGGCCAAGCT	0.647		NaN											0	0	0	0.008291	0	8	83				
ZNF696	79943	broad.mit.edu	37	8	144377992	144377992	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:144377992C>A	uc003yxy.3	+	3	556	c.147C>A	c.(145-147)GCC>GCA	p.A49A		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGGAGCCTGCCGCAGAGGCAG	0.672		NaN											1	0	0.004672	0.004672	0.00485041	2	3				
IFNA7	3444	broad.mit.edu	37	9	21202054	21202054	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:21202054G>C	uc003zop.1	-	1	151	c.111C>G	c.(109-111)GCC>GCG	p.A37A	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	37					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGTATCAAGGCCCTCCTAT	0.502		NaN											0	0	0	0.00333	0	22	121				
MURC	347273	broad.mit.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:103348453G>A	uc004bba.2	+	2	905	c.815G>A	c.(814-816)CGC>CAC	p.R272H		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537		NaN											0	0	0	0.00632	0	25	104				
PPP3R2	5535	broad.mit.edu	37	9	104357001	104357001	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:104357001C>G	uc004bbr.2	-	1	283	c.212G>C	c.(211-213)GGA>GCA	p.G71A	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	68	EF-hand 2.|2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTCCACTTCTCCATCACCGTC	0.577		NaN											0	0	0	0.00245	0	15	86				
CEP110	11064	broad.mit.edu	37	9	123932082	123932082	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:123932082G>C	uc004bkx.1	+	37	6295	c.6264G>C	c.(6262-6264)GAG>GAC	p.E2088D	CEP110_uc004blb.1_Missense_Mutation_p.E757D|CEP110_uc010mvp.1_Missense_Mutation_p.E38D	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	2088	Required for centrosome localization.|Sufficient for interaction with HOOK2.|Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GCCAGCTGGAGAAAAACCTTC	0.443		NaN											0	0	0	0.004672	0	3	81				
OR1J2	26740	broad.mit.edu	37	9	125273495	125273495	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:125273495G>C	uc004bmj.1	+	4	1270	c.415G>C	c.(415-417)GAG>CAG	p.E139Q	OR1J2_uc011lyv.1_Missense_Mutation_p.E139Q	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CATGAGGGAAGAGCTCTGTGT	0.478		NaN											0	0	0	0.00308	0	8	51				
GOLGA1	2800	broad.mit.edu	37	9	127693663	127693663	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127693663C>G	uc004bpc.2	-	4	500	c.158G>C	c.(157-159)AGA>ACA	p.R53T	GOLGA1_uc010mwt.1_Missense_Mutation_p.R53T	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	53	Potential.					Golgi cisterna membrane				ovary(1)	1						AAGATCTTCTCTGGAGCTGCT	0.433		NaN											0	0	0	0.010504	0	19	87				
SCAI	286205	broad.mit.edu	37	9	127734000	127734000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127734000C>T	uc004bpe.2	-	16	1604	c.1523G>A	c.(1522-1524)CGA>CAA	p.R508Q	SCAI_uc004bpd.2_Missense_Mutation_p.R531Q|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	508					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						GTTGATTTTTCGAAGATATTC	0.408		NaN											0	0	0	0.003954	0	24	96				
SPTAN1	6709	broad.mit.edu	37	9	131388736	131388736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:131388736G>A	uc004bvl.3	+	48	6444	c.6331G>A	c.(6331-6333)GAG>AAG	p.E2111K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2116K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2091K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2111	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAAAATGCAGAGGAGGACTT	0.567		NaN											0	0	0	0.00499	0	18	137				
CARD9	64170	broad.mit.edu	37	9	139266398	139266398	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139266398C>T	uc004chg.3	-	2	299	c.133G>A	c.(133-135)GAG>AAG	p.E45K	CARD9_uc011mdw.1_Missense_Mutation_p.E45K|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Missense_Mutation_p.E45K	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	45	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTCCTCATCATCGGGG	0.637		NaN											0	0	0	0.00632	0	30	161				
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139741083C>T	uc011meh.1	+	1	2217	c.2217C>T	c.(2215-2217)ATC>ATT	p.I739I	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739											0						TCTCGCGCATCGCGCGTGTCG	0.706		NaN											0	0	0	0.004482	0	9	9				
PHEX	5251	broad.mit.edu	37	X	22056609	22056609	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:22056609C>T	uc004dah.2	+	2	344	c.141C>T	c.(139-141)CTC>CTT	p.L47L	PHEX_uc011mjr.1_Silent_p.L47L|PHEX_uc011mjs.1_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	47	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TCTTAAGTCTCCAAGCTAAAC	0.453		NaN											0	0	0	0.007835	0	40	176				
PTCHD1	139411	broad.mit.edu	37	X	23412194	23412194	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:23412194G>C	uc004dal.3	+	3	2567	c.2559G>C	c.(2557-2559)AAG>AAC	p.K853N		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	853					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CACCCTCTAAGAAAAAAAGGA	0.403		NaN											0	0	0	0.00623	0	38	78				
FAM47C	442444	broad.mit.edu	37	X	37029100	37029100	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:37029100G>C	uc004ddl.1	+	1	2631	c.2617G>C	c.(2617-2619)GAC>CAC	p.D873H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	873										ovary(3)	3						CAGTCTGTTTGACTTTACCCC	0.458		NaN											0	0	0	0.004482	0	8	133				
RPGR	6103	broad.mit.edu	37	X	38150241	38150241	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:38150241A>C	uc004ded.1	-	13	1711	c.1543T>G	c.(1543-1545)TTA>GTA	p.L515V	RPGR_uc004deb.2_Missense_Mutation_p.L515V|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	515					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GATAATTTTAATGACTTTTCA	0.229		NaN											0	0	0	0.001984	0	6	30				
PHF16	9767	broad.mit.edu	37	X	46884244	46884244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:46884244G>C	uc004dgx.2	+	5	454	c.403G>C	c.(403-405)GTT>CTT	p.V135L	PHF16_uc004dgy.2_Missense_Mutation_p.V135L	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	135					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						GGCAGCATCTGTTTGCCGCTA	0.468		NaN											0	0	0	0.007413	0	18	52				
RRAGB	10325	broad.mit.edu	37	X	55755751	55755751	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:55755751G>T	uc004dup.2	+	5	986	c.335G>T	c.(334-336)CGA>CTA	p.R112L	RRAGB_uc004duq.2_Missense_Mutation_p.R84L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	112					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TCTCATGTTCGATTTCTGGGA	0.388		NaN											1	0	1.22574e-08	0.014323	1.31653e-08	22	62				
GDPD2	54857	broad.mit.edu	37	X	69646848	69646848	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:69646848G>A	uc004dyh.2	+	8	940	c.689G>A	c.(688-690)CGA>CAA	p.R230Q	GDPD2_uc010nkx.1_Missense_Mutation_p.R230Q|GDPD2_uc010nky.1_Missense_Mutation_p.R16Q|GDPD2_uc011mpk.1_Missense_Mutation_p.R230Q|GDPD2_uc011mpl.1_Missense_Mutation_p.R151Q|GDPD2_uc011mpm.1_Missense_Mutation_p.R151Q	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	230	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					GTGGGACACCGAGGGGCCCCC	0.612		NaN											0	0	0	0.001984	0	7	34				
FOXO4	4303	broad.mit.edu	37	X	70321316	70321316	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70321316C>A	uc004dys.1	+	2	1589	c.1236C>A	c.(1234-1236)GTC>GTA	p.V412V	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.V357V	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	412					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CCACGGGCGTCGGCCTGTGTC	0.617		NaN											1	0	0.00116845	0.001168	0.00121888	6	29				
MED12	9968	broad.mit.edu	37	X	70338701	70338701	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70338701G>A	uc004dyy.2	+	1	296	c.97G>A	c.(97-99)GAG>AAG	p.E33K	MED12_uc011mpq.1_Missense_Mutation_p.E33K|MED12_uc004dyz.2_Missense_Mutation_p.E33K|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	33					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CAAACAGAAGGAGGTGCGTTC	0.677		NaN											0	0	0	0.001168	0	5	9				
GPRASP2	114928	broad.mit.edu	37	X	101970821	101970821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:101970821C>T	uc004ejk.2	+	4	2358	c.1024C>T	c.(1024-1026)CCT>TCT	p.P342S	GPRASP2_uc004ejl.2_Missense_Mutation_p.P342S|GPRASP2_uc004ejm.2_Missense_Mutation_p.P342S|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	342						cytoplasm	protein binding			ovary(1)	1						CTGGGTTTTGCCTGGAGAAGA	0.448		NaN											0	0	0	0.009096	0	4	116				
IL1RAPL2	26280	broad.mit.edu	37	X	105011463	105011463	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:105011463G>C	uc004elz.1	+	11	2626	c.1870G>C	c.(1870-1872)GAG>CAG	p.E624Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	624	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TTATAAACATGAGATACCAGC	0.478		NaN											0	0	0	0.004482	0	9	118				
RBMX2	51634	broad.mit.edu	37	X	129545341	129545341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:129545341G>A	uc004evt.2	+	5	387	c.323G>A	c.(322-324)CGA>CAA	p.R108Q		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	108	RRM.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						AGAACTATCCGAGTGGATCAT	0.478		NaN											0	0	0	0.00308	0	8	89				
GPR50	9248	broad.mit.edu	37	X	150349383	150349383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:150349383C>G	uc010ntg.1	+	2	1463	c.1328C>G	c.(1327-1329)TCT>TGT	p.S443C		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	443	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCCTCTGTCCATTTC	0.557		NaN											0	0	0	0.00308	0	8	371				
PNMA5	114824	broad.mit.edu	37	X	152159943	152159943	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:152159943A>G	uc010ntw.2	-	3	539	c.200T>C	c.(199-201)ATT>ACT	p.I67T	PNMA5_uc004fha.3_Missense_Mutation_p.I67T|PNMA5_uc010ntx.2_Missense_Mutation_p.I67T|PNMA5_uc004fgy.3_Missense_Mutation_p.I67T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	67					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					agccagttcaatgaagactgc	0		NaN											0	0	0	0.00632	0	29	117				
AGRN	375790	broad.mit.edu	37	1	957838	957838	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:957838G>A	uc001ack.1	+	2	509	c.459G>A	c.(457-459)GTG>GTA	p.V153V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	153	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGTTCTGTGTGGAAGGTGCGT	0.657		NaN											0	0	0	0.014323	0	23	30				
DFFB	1677	broad.mit.edu	37	1	3800260	3800260	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:3800260C>T	uc001alc.2	+	7	1295	c.972C>T	c.(970-972)CCC>CCT	p.P324P	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.P348P|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.P275P|DFFB_uc001ald.2_Silent_p.P260P	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	324					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCTACAAACCCCAGACAAGGT	0.498		NaN											0	0	0	0.027356	0	28	65				
LOC440563	440563	broad.mit.edu	37	1	13183388	13183388	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:13183388G>C	uc010obg.1	-	1	580	c.485C>G	c.(484-486)TCT>TGT	p.S162C		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	162						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						TCCACTCTTAGAATTGAAGCC	0.502		NaN											0	0	0	0.01441	0	79	496				
EIF4G3	8672	broad.mit.edu	37	1	21226289	21226289	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:21226289G>A	uc001bec.2	-	11	1988	c.1732C>T	c.(1732-1734)CGT>TGT	p.R578C	EIF4G3_uc010odi.1_Missense_Mutation_p.R182C|EIF4G3_uc010odj.1_Missense_Mutation_p.R577C|EIF4G3_uc009vpz.2_Missense_Mutation_p.R298C|EIF4G3_uc001bed.2_Missense_Mutation_p.R578C|EIF4G3_uc001bef.2_Missense_Mutation_p.R577C|EIF4G3_uc001bee.2_Missense_Mutation_p.R584C	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	578					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCACCATTACGTACTGGCTCA	0.438		NaN											0	0	0	0.020292	0	15	271				
PUM1	9698	broad.mit.edu	37	1	31478834	31478834	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:31478834G>C	uc001bsi.1	-	5	699	c.586C>G	c.(586-588)CAG>GAG	p.Q196E	PUM1_uc001bsg.1_Missense_Mutation_p.Q8E|PUM1_uc001bsh.1_Missense_Mutation_p.Q196E|PUM1_uc001bsj.1_Missense_Mutation_p.Q196E|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.Q232E|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	196					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGGAAACTCTGACCAGGTCTT	0.468		NaN											0	0	0	0.006214	0	10	36				
GJA9	81025	broad.mit.edu	37	1	39341511	39341511	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:39341511G>A	uc001cct.1	-	2	541	c.260C>T	c.(259-261)TCA>TTA	p.S87L	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	87	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAGGGATGGTGAAGACACAAA	0.473		NaN											0	0	0	0.01441	0	45	114				
MAGOH	4116	broad.mit.edu	37	1	53699276	53699276	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:53699276C>T	uc001cvf.1	-	3	284	c.196G>A	c.(196-198)GAC>AAC	p.D66N	MAGOH_uc010ont.1_Intron	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	66				DSE->RSR: Slightly reduced nonsense- mediated decay activity.	mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding				0						ATTTCACTGTCGTCAATTATT	0.408		NaN											0	0	0	0.01441	0	47	103				
CACHD1	57685	broad.mit.edu	37	1	65145288	65145288	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:65145288G>A	uc001dbo.1	+	24	3207	c.3102G>A	c.(3100-3102)GTG>GTA	p.V1034V	CACHD1_uc001dbp.1_Silent_p.V789V|CACHD1_uc001dbq.1_Silent_p.V789V|CACHD1_uc010opa.1_Silent_p.V278V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1085	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						GTGATGAGGTGATCACATTAA	0.493		NaN											0	0	0	0.009535	0	31	64				
LRRC7	57554	broad.mit.edu	37	1	70488897	70488897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:70488897G>A	uc001dep.2	+	15	1550	c.1520G>A	c.(1519-1521)TGG>TAG	p.W507*	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	507						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGCACACCATGGGCCAGGTGT	0.587		NaN											0	0	0	0.012319	0	20	34				
ZZZ3	26009	broad.mit.edu	37	1	78045314	78045314	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:78045314C>G	uc001dhq.2	-	10	2457	c.1981_splice	c.e10-1	p.K661_splice	ZZZ3_uc001dhr.2_Splice_Site_p.K167_splice|ZZZ3_uc001dhp.2_Splice_Site_p.K660_splice	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						CCAGCTTTTTCTAAGCCATAC	0.323		NaN											0	0	0	0.025465	0	37	70				
PRMT6	55170	broad.mit.edu	37	1	107599800	107599800	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:107599800G>C	uc010ous.1	+	1	534	c.463G>C	c.(463-465)GAG>CAG	p.E155Q		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	155					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CATCGTGAGCGAGTGGATGGG	0.652		NaN											0	0	0	0.024334	0	23	49				
KCNA10	3744	broad.mit.edu	37	1	111060995	111060995	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:111060995C>G	uc001dzt.1	-	1	803	c.415G>C	c.(415-417)GAT>CAT	p.D139H		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	139						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGGATTCCATCAAAACTGGGC	0.453		NaN											0	0	0	0.008361	0	31	64				
RSBN1	54665	broad.mit.edu	37	1	114310974	114310974	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:114310974G>C	uc001edq.2	-	5	1732	c.1696C>G	c.(1696-1698)CGG>GGG	p.R566G	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	566						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTGGTCCGAGGTAGGTAC	0.428		NaN											0	0	0	0.020292	0	12	63				
TTF2	8458	broad.mit.edu	37	1	117633211	117633211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:117633211G>T	uc001egy.2	+	15	2574	c.2554G>T	c.(2554-2556)GAG>TAG	p.E852*		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	852					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAAGATGAAGAGACTGTTTA	0.368		NaN											1	0	4.35082e-09	0.010504	4.66417e-09	17	51				
RPRD2	23248	broad.mit.edu	37	1	150443792	150443792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:150443792C>T	uc009wlr.2	+	11	2569	c.2368C>T	c.(2368-2370)CGA>TGA	p.R790*	RPRD2_uc010pcc.1_Nonsense_Mutation_p.R764*|RPRD2_uc001eup.3_Nonsense_Mutation_p.R764*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	790	Ser-rich.						protein binding			ovary(1)	1						ATCTACATATCGACCCTTTGG	0.507		NaN											0	0	0	0.028581	0	17	40				
ASH1L	55870	broad.mit.edu	37	1	155491121	155491121	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:155491121C>T	uc009wqq.2	-	2	670	c.190G>A	c.(190-192)GAT>AAT	p.D64N	ASH1L_uc001fkt.2_Missense_Mutation_p.D64N|ASH1L_uc009wqr.1_Missense_Mutation_p.D64N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	64					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCAAACCATCATCTTTCCCA	0.393		NaN											0	0	0	0.01441	0	188	399				
NES	10763	broad.mit.edu	37	1	156641159	156641159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:156641159C>T	uc001fpq.2	-	4	2954	c.2821G>A	c.(2821-2823)GAG>AAG	p.E941K		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	941	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCGGCAGCTCCTGTCCCTCC	0.547		NaN											0	0	0	0.01441	0	105	185				
CD1D	912	broad.mit.edu	37	1	158151886	158151886	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:158151886C>G	uc001frr.2	+	4	892	c.393C>G	c.(391-393)TTC>TTG	p.F131L	CD1D_uc009wsr.1_Missense_Mutation_p.F131L|CD1D_uc009wss.2_Missense_Mutation_p.F131L|CD1D_uc009wst.1_Missense_Mutation_p.F27L	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	131	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CAAATAACTTCTTCCATGTAG	0.498		NaN											0	0	0	0.01441	0	104	223				
POU2F1	5451	broad.mit.edu	37	1	167381395	167381395	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:167381395G>A	uc001gec.2	+	15	1848	c.1686G>A	c.(1684-1686)GTG>GTA	p.V562V	POU2F1_uc001ged.2_Silent_p.V560V|POU2F1_uc001gee.2_Silent_p.V562V|POU2F1_uc010plh.1_Silent_p.V499V|POU2F1_uc001gef.2_Silent_p.V574V|POU2F1_uc001geg.2_Silent_p.V460V|POU2F1_uc009wvg.1_RNA	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	562					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						CCAGCCAGGTGATGGTGACAG	0.592		NaN											0	0	0	0.013537	0	11	32				
ASTN1	460	broad.mit.edu	37	1	176903363	176903364	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:176903363_176903364CC>TT	uc001glc.2	-	16	2807_2808	c.2595_2596GG>AA	c.(2593-2598)GAGGAG>GAAAAG	p.E866K	ASTN1_uc001glb.1_Missense_Mutation_p.E866K|ASTN1_uc001gld.1_Missense_Mutation_p.E866K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	874					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GAACAGGACTCCTCAAAGCCGT	0.52		NaN											0	0	0	0.004672	0	9	61				
NCF2	4688	broad.mit.edu	37	1	183542321	183542321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:183542321G>A	uc001gqj.3	-	5	883	c.608C>T	c.(607-609)ACG>ATG	p.T203M	NCF2_uc010pod.1_Missense_Mutation_p.T158M|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.T203M	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	203					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						CCCACCTACCGTCGCCTTGCC	0.572		NaN											0	0	0	0.01441	0	90	130				
C1orf26	54823	broad.mit.edu	37	1	185144079	185144079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:185144079G>C	uc001grg.3	+	5	914	c.800G>C	c.(799-801)AGA>ACA	p.R267T	C1orf26_uc001grh.3_Missense_Mutation_p.R267T	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	267											0						CAGGAAGAAAGAGAATACCTG	0.368		NaN											0	0	0	0.01441	0	54	88				
CRB1	23418	broad.mit.edu	37	1	197390429	197390429	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:197390429G>A	uc001gtz.2	+	6	1606	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	CRB1_uc010poz.1_Missense_Mutation_p.D422N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D379N|CRB1_uc010ppb.1_Missense_Mutation_p.D491N|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D140N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	491	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ATTTGAGGGCGATGGCTTCCT	0.517		NaN											0	0	0	0.010818	0	31	47				
C1orf107	27042	broad.mit.edu	37	1	210006542	210006542	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:210006542C>T	uc001hhr.1	+	4	477	c.401C>T	c.(400-402)TCT>TTT	p.S134F	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	134	Glu-rich.				multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GTAGCTTTATCTGCTGACCCT	0.398		NaN											0	0	0	0.016522	0	24	40				
ESRRG	2104	broad.mit.edu	37	1	216850784	216850784	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:216850784A>G	uc001hkw.1	-	2	272	c.106T>C	c.(106-108)TCG>CCG	p.S36P	ESRRG_uc001hky.1_Missense_Mutation_p.S13P|ESRRG_uc009xdp.1_Missense_Mutation_p.S13P|ESRRG_uc001hkz.1_Missense_Mutation_p.S13P|ESRRG_uc010puc.1_Missense_Mutation_p.S13P|ESRRG_uc001hla.1_Missense_Mutation_p.S13P|ESRRG_uc001hlb.1_Missense_Mutation_p.S13P|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S13P|ESRRG_uc001hld.1_Missense_Mutation_p.S13P|ESRRG_uc001hkx.1_Missense_Mutation_p.S41P|ESRRG_uc009xdo.1_Missense_Mutation_p.S13P|ESRRG_uc001hle.1_Missense_Mutation_p.S13P	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	36					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATGAAGGACGAACAGCTGGAA	0.438		NaN											0	0	0	0.007291	0	29	32				
MARK1	4139	broad.mit.edu	37	1	220825393	220825393	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:220825393C>T	uc001hmn.3	+	15	2234	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L	MARK1_uc009xdw.2_Missense_Mutation_p.S546L|MARK1_uc010pun.1_Missense_Mutation_p.S546L|MARK1_uc001hmm.3_Missense_Mutation_p.S524L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	546					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GCTGTCCCCTCAGCACGACCC	0.517		NaN											0	0	0	0.017118	0	34	66				
RYR2	6262	broad.mit.edu	37	1	237875065	237875065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:237875065G>C	uc001hyl.1	+	71	10371	c.10251G>C	c.(10249-10251)CAG>CAC	p.Q3417H	RYR2_uc010pxz.1_Missense_Mutation_p.Q372H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3417					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAAGAGCAGAACTTCGTTG	0.328		NaN											0	0	0	0.004672	0	3	26				
RGS7	6000	broad.mit.edu	37	1	240990424	240990424	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:240990424T>A	uc001hyv.2	-	10	988	c.658A>T	c.(658-660)ATG>TTG	p.M220L	RGS7_uc010pyh.1_Missense_Mutation_p.M194L|RGS7_uc010pyj.1_Missense_Mutation_p.M136L|RGS7_uc001hyu.2_Missense_Mutation_p.M220L|RGS7_uc009xgn.1_Missense_Mutation_p.M167L|RGS7_uc001hyw.2_Missense_Mutation_p.M220L|RGS7_uc001hyt.2_Missense_Mutation_p.M52L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	220					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGGTTTCTCATTCTGGATGAC	0.403		NaN											0	0	0	0.014323	0	21	49				
PLD5	200150	broad.mit.edu	37	1	242428713	242428713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:242428713G>A	uc001hzn.1	-	4	660	c.533C>T	c.(532-534)TCG>TTG	p.S178L	PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	178						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATATTTTGCGAAGTCAGCTG	0.358		NaN											0	0	0	0.010504	0	19	43				
ZNF124	7678	broad.mit.edu	37	1	247323048	247323048	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247323048G>A	uc001ick.2	-	2	237	c.98C>T	c.(97-99)TCC>TTC	p.S33F	ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Missense_Mutation_p.S33F	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATTCTTCTGGGAAGGATCCAA	0.423		NaN											0	0	0	0.012213	0	31	72				
ZNF496	84838	broad.mit.edu	37	1	247464253	247464253	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:247464253G>A	uc001ico.2	-	9	1797	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F	ZNF496_uc009xgv.2_Silent_p.F480F|ZNF496_uc001icp.2_Silent_p.F444F	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	444	C2H2-type 2.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTGTCGCTGAACAGCTCCC	0.642		NaN											0	0	0	0.025465	0	40	50				
ITIH2	3698	broad.mit.edu	37	10	7785117	7785117	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:7785117G>A	uc001ijs.2	+	17	2266	c.2104G>A	c.(2104-2106)GAC>AAC	p.D702N		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	702					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						AGTTGAAAATGACCCACATTT	0.313		NaN											0	0	0	0.01441	0	55	120				
FAM107B	83641	broad.mit.edu	37	10	14572359	14572359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:14572359G>C	uc001imx.1	-	2	345	c.100C>G	c.(100-102)CAC>GAC	p.H34D	FAM107B_uc001ina.1_Missense_Mutation_p.H209D|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.H34D|FAM107B_uc001imy.1_Missense_Mutation_p.H34D|FAM107B_uc001imz.1_Missense_Mutation_p.H34D	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	34										breast(4)	4						AGTTCTCTGTGAAGATCTTGA	0.348		NaN											0	0	0	0.012213	0	34	57				
ARHGAP12	94134	broad.mit.edu	37	10	32197217	32197217	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:32197217C>A	uc001ivz.1	-	3	837	c.567G>T	c.(565-567)GAG>GAT	p.E189D	ARHGAP12_uc001ivy.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xls.2_Missense_Mutation_p.E187D|ARHGAP12_uc001iwb.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwc.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlq.1_Missense_Mutation_p.E187D|ARHGAP12_uc001iwd.1_Missense_Mutation_p.E187D|ARHGAP12_uc009xlr.1_Missense_Mutation_p.E187D	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	189					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				AGCTAGTTTTCTCTACATCCA	0.433		NaN											1	0	1.61788e-16	0.012213	1.77875e-16	31	63				
FAM13C	220965	broad.mit.edu	37	10	61022288	61022288	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:61022288G>A	uc001jkn.2	-	11	1276	c.1142C>T	c.(1141-1143)CCG>CTG	p.P381L	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P298L|FAM13C_uc010qie.1_Missense_Mutation_p.P298L|FAM13C_uc010qif.1_Missense_Mutation_p.P403L|FAM13C_uc001jkp.2_Missense_Mutation_p.P298L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	381										ovary(2)	2						GCTTGGCTCCGGGCCCGCAGC	0.542		NaN											0	0	0	0.00308	0	8	68				
PRF1	5551	broad.mit.edu	37	10	72360409	72360409	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:72360409T>G	uc009xqg.2	-	2	411	c.250A>C	c.(250-252)ACC>CCC	p.T84P	PRF1_uc001jrf.3_Missense_Mutation_p.T84P	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	84	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CGCTGGAGGGTGCCCTCCTGT	0.662		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.006214	0	7	23				
NRG3	10718	broad.mit.edu	37	10	84738833	84738833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:84738833G>A	uc001kco.2	+	8	1567	c.1540G>A	c.(1540-1542)GAA>AAA	p.E514K	NRG3_uc010qlz.1_Missense_Mutation_p.E513K|NRG3_uc001kcp.2_Missense_Mutation_p.E293K|NRG3_uc001kcq.2_Missense_Mutation_p.E164K|NRG3_uc001kcr.2_Missense_Mutation_p.E164K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	514	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCAGCAACTCGAAGAATCAAG	0.493		NaN											0	0	0	0.009096	0	4	33				
IFIT3	3437	broad.mit.edu	37	10	91099496	91099496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:91099496C>T	uc001kgf.2	+	2	1313	c.1084C>T	c.(1084-1086)CAG>TAG	p.Q362*	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q362*	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	362					type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						ACAATCCCATCAGCGCTACTG	0.433		NaN											0	0	0	0.027894	0	39	51				
CCDC147	159686	broad.mit.edu	37	10	106139898	106139898	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:106139898C>A	uc001kyh.2	+	9	1419	c.1285C>A	c.(1285-1287)CAG>AAG	p.Q429K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	429	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGATGAGGCTCAGAAGCAGAG	0.493		NaN											1	0	3.27435e-08	0.020292	3.48125e-08	12	59				
TACC2	10579	broad.mit.edu	37	10	123847305	123847305	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:123847305C>T	uc001lfv.2	+	4	5650	c.5290C>T	c.(5290-5292)CTT>TTT	p.L1764F	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.L1764F|TACC2_uc010qtv.1_Missense_Mutation_p.L1764F	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1764						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TACAGCTGCCCTTCATGGGGA	0.647		NaN											0	0	0	0.009096	0	4	8				
C10orf120	399814	broad.mit.edu	37	10	124457887	124457887	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:124457887C>G	uc001lgn.2	-	3	402	c.370G>C	c.(370-372)GAG>CAG	p.E124Q		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	124										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				TTTTTATACTCCATTGCTTGT	0.438		NaN											0	0	0	0.01441	0	121	165				
FAM175B	23172	broad.mit.edu	37	10	126505169	126505169	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr10:126505169C>G	uc001lib.3	+	3	233	c.188C>G	c.(187-189)TCA>TGA	p.S63*		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	63	MPN-like.					BRISC complex	polyubiquitin binding				0						CAGCCTTGTTCAAAACTTTTT	0.323		NaN											0	0	0	0.013726	0	31	49				
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664543	5664543	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:5664543G>C	uc001mbf.2	+	14	2377	c.2133G>C	c.(2131-2133)AAG>AAC	p.K711N	HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.K357N|TRIM34_uc009yeq.2_Missense_Mutation_p.K112N|TRIM34_uc001mbi.2_Missense_Mutation_p.K357N|TRIM78P_uc009yer.2_Intron	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	711						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ACGTGTCCAAGAAAACTGCCT	0.408		NaN											0	0	0	0.016522	0	22	12				
PDE3B	5140	broad.mit.edu	37	11	14825541	14825541	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:14825541G>A	uc001mln.2	+	5	1820	c.1467G>A	c.(1465-1467)CCG>CCA	p.P489P	PDE3B_uc010rcr.1_Silent_p.P438P	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	489					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGACTATCCCGAAGCAAAGGT	0.353		NaN											0	0	0	0.020292	0	14	20				
UEVLD	55293	broad.mit.edu	37	11	18586472	18586472	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:18586472G>A	uc001mot.2	-	6	659	c.579C>T	c.(577-579)CTC>CTT	p.L193L	UEVLD_uc001mou.2_Silent_p.L193L|UEVLD_uc010rde.1_Silent_p.L63L|UEVLD_uc010rdf.1_Silent_p.L171L|UEVLD_uc010rdg.1_Silent_p.L63L|UEVLD_uc001mov.2_Silent_p.L171L|UEVLD_uc010rdh.1_Silent_p.L193L	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	193	NAD (By similarity).				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AGGCAATACCGAGTTCTCCAC	0.373		NaN											0	0	0	0.00499	0	17	11				
CAT	847	broad.mit.edu	37	11	34492549	34492549	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:34492549C>G	uc001mvm.2	+	12	1562	c.1479C>G	c.(1477-1479)ATC>ATG	p.I493M	CAT_uc001mvn.2_Missense_Mutation_p.I102M	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	493					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GGAGCCACATCCAGGCTCTTC	0.507		NaN											0	0	0	0.01441	0	67	57				
OR9Q2	219957	broad.mit.edu	37	11	57958523	57958523	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:57958523C>G	uc010rka.1	+	1	561	c.561C>G	c.(559-561)CTC>CTG	p.L187L		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TATTAAAACTCTCCTGTGGGG	0.448		NaN											0	0	0	0.013537	0	12	31				
OR5B2	390190	broad.mit.edu	37	11	58189810	58189810	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:58189810G>A	uc010rkg.1	-	1	925	c.925C>T	c.(925-927)CTA>TTA	p.L309L		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAACTTATAGAAATTTTTGC	0.383		NaN											0	0	0	0.010504	0	21	32				
CCDC86	79080	broad.mit.edu	37	11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:60609623G>A	uc001nqa.2	+	1	195	c.26G>A	c.(25-27)CGA>CAA	p.R9Q	CCDC86_uc001nqb.2_5'UTR	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					interspecies interaction between organisms	nucleus					0						AGGCGCAGCCGACGGCTGGGA	0.637		NaN											0	0	0	0.009096	0	3	19				
SLC22A10	387775	broad.mit.edu	37	11	63066993	63066993	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:63066993G>A	uc009yor.2	+	6	1170	c.962G>A	c.(961-963)AGA>AAA	p.R321K	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.R161K	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	321	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						AAGGTTGTAAGATCCACCATG	0.423		NaN											0	0	0	0.010729	0	10	22				
KLC2	64837	broad.mit.edu	37	11	66030506	66030506	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66030506C>A	uc010rov.1	+	5	994	c.751C>A	c.(751-753)CGG>AGG	p.R251R	KLC2_uc010row.1_Silent_p.R251R|KLC2_uc009yra.2_Silent_p.R251R|KLC2_uc001ohb.2_Silent_p.R251R|KLC2_uc010rox.1_Silent_p.R174R|KLC2_uc001ohc.2_Silent_p.R251R|KLC2_uc001ohd.2_Silent_p.R174R|KLC2_uc001ohe.1_Silent_p.R112R	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	251	TPR 2.				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						ACTGGTCTATCGGTGAGGACT	0.602		NaN											1	0	2.7689e-08	0.001984	2.95196e-08	7	21				
CD248	57124	broad.mit.edu	37	11	66082600	66082600	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66082600G>A	uc001ohm.1	-	1	1916	c.1899C>T	c.(1897-1899)ATC>ATT	p.I633I		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	633	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GTGTAGGGCTGATGGGTGAGG	0.632		NaN											0	0	0	0.016522	0	24	42				
SYT12	91683	broad.mit.edu	37	11	66816082	66816082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:66816082G>A	uc009yrl.2	+	8	1350	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	SYT12_uc001oju.2_Missense_Mutation_p.E374K	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	374	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GACGGTGGCTGAGAGCAGCAG	0.607		NaN											0	0	0	0.010504	0	18	40				
KDM2A	22992	broad.mit.edu	37	11	67021049	67021049	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:67021049C>T	uc001ojw.2	+	19	3922	c.3058C>T	c.(3058-3060)CGG>TGG	p.R1020W	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R714W|KDM2A_uc001ojz.1_Missense_Mutation_p.R478W|KDM2A_uc001oka.2_Missense_Mutation_p.R144W	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CCCTCAAATTCGGGACTTGCT	0.552		NaN											0	0	0	0.01441	0	59	76				
NUMA1	4926	broad.mit.edu	37	11	71719867	71719867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71719867G>A	uc001orl.1	-	20	5255	c.5083C>T	c.(5083-5085)CGA>TGA	p.R1695*	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1244*|NUMA1_uc001ork.1_Nonsense_Mutation_p.R559*|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1681*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1258*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1695	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCCAGGTCTCGAAGCTGCTGG	0.582		NaN	T	RARA	APL								0	0	0	0.028581	0	17	80				
NUMA1	4926	broad.mit.edu	37	11	71728852	71728852	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:71728852G>A	uc001orl.1	-	13	1172	c.1000C>T	c.(1000-1002)CTG>TTG	p.L334L	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Silent_p.L334L|NUMA1_uc001orm.1_Silent_p.L334L|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Silent_p.L334L|NUMA1_uc001oro.1_Silent_p.L334L|NUMA1_uc009ysy.1_Silent_p.L334L|NUMA1_uc001orp.2_Silent_p.L334L|NUMA1_uc001orq.2_Silent_p.L334L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	334	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						AGCTGCTGCAGATGACTGGCA	0.602		NaN	T	RARA	APL								0	0	0	0.028581	0	16	28				
MAP6	4135	broad.mit.edu	37	11	75298211	75298211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:75298211G>C	uc001owu.2	-	4	2400	c.2335C>G	c.(2335-2337)CTG>GTG	p.L779V		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	779	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					TGAGTCTTCAGAGGTTCAGGG	0.532		NaN											0	0	0	0.021022	0	37	55				
MYO7A	4647	broad.mit.edu	37	11	76873170	76873170	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:76873170G>C	uc001oyb.2	+	13	1620	c.1348G>C	c.(1348-1350)GAG>CAG	p.E450Q	MYO7A_uc010rsl.1_Missense_Mutation_p.E450Q|MYO7A_uc010rsm.1_Missense_Mutation_p.E439Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E450Q	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	450	Myosin head-like.		E -> Q (in USH1B).		actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CTGCAGCTTTGAGCAGCTCTG	0.572		NaN											0	0	0	0.004672	0	3	5				
DLG2	1740	broad.mit.edu	37	11	83770465	83770465	+	Missense_Mutation	SNP	G	G	T	rs146925269		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:83770465G>T	uc001paj.2	-	6	800	c.497C>A	c.(496-498)GCG>GAG	p.A166E	DLG2_uc001pai.2_Missense_Mutation_p.A115E|DLG2_uc010rsy.1_Missense_Mutation_p.A133E|DLG2_uc010rsz.1_Missense_Mutation_p.A166E|DLG2_uc010rta.1_Missense_Mutation_p.A166E|DLG2_uc001pak.2_Missense_Mutation_p.A271E|DLG2_uc010rtb.1_Missense_Mutation_p.A133E|DLG2_uc001pal.1_Missense_Mutation_p.A166E|DLG2_uc001pam.1_Missense_Mutation_p.A205E	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	166	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCTTCCACCGCTTTACTGTG	0.478		NaN											1	0	0.000602214	0.014758	0.000618188	5	43				
ZC3H12C	85463	broad.mit.edu	37	11	110035800	110035800	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:110035800C>A	uc009yxw.2	+	6	2041	c.1990C>A	c.(1990-1992)CAC>AAC	p.H664N	ZC3H12C_uc010rwc.1_Missense_Mutation_p.H665N|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H665N|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H633N	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	664							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAGTGTCAACACATGCACCC	0.522		NaN											1	0	2.08403e-16	0.01441	2.28476e-16	57	57				
TREH	11181	broad.mit.edu	37	11	118529682	118529682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:118529682G>A	uc001pty.1	-	13	1522	c.1477C>T	c.(1477-1479)CAG>TAG	p.Q493*	TREH_uc009zaj.1_Nonsense_Mutation_p.Q462*|TREH_uc001ptz.1_Nonsense_Mutation_p.Q370*	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	493					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TGAGCCAGCTGGAAAGCCACT	0.577		NaN									OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	52	42				
SRPR	6734	broad.mit.edu	37	11	126138751	126138751	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr11:126138751C>T	uc001qdh.2	-	1	1	c.-50_splice	c.e1-1		SRPR_uc010sbm.1_Splice_Site|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank|FOXRED1_uc001qdk.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor						SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGCCGCGTTCGCCGCCGCTT	0.677		NaN											0	0	0	0.006214	0	10	12				
C1RL	51279	broad.mit.edu	37	12	7249214	7249214	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:7249214C>T	uc001qsn.2	-	6	1254	c.1237G>A	c.(1237-1239)GAG>AAG	p.E413K	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	413	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GAAAACACCTCGGGTCTCTGT	0.552		NaN											0	0	0	0.01441	0	63	130				
PLEKHA5	54477	broad.mit.edu	37	12	19407999	19407999	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:19407999C>T	uc001reb.2	+	5	418	c.332C>T	c.(331-333)TCT>TTT	p.S111F	PLEKHA5_uc010sie.1_Missense_Mutation_p.S111F|PLEKHA5_uc001rea.2_Missense_Mutation_p.S111F|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sig.1_Missense_Mutation_p.S3F|PLEKHA5_uc010sih.1_Missense_Mutation_p.S3F	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	111							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCATGACATCTGAAGAAAAG	0.378		NaN											0	0	0	0.008291	0	10	63				
GYS2	2998	broad.mit.edu	37	12	21721862	21721862	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:21721862C>T	uc001rfb.2	-	5	1015	c.760G>A	c.(760-762)GTG>ATG	p.V254M		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	254					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GTGGTGAACACGTGAGCGCAA	0.428		NaN											0	0	0	0.009535	0	30	53				
SYT10	341359	broad.mit.edu	37	12	33532824	33532824	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:33532824C>G	uc001rll.1	-	6	1740	c.1443G>C	c.(1441-1443)TGG>TGC	p.W481C	SYT10_uc009zju.1_Missense_Mutation_p.W291C	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	481	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCATTTCATTCCAGTGGTCTC	0.463		NaN											0	0	0	0.00874	0	42	78				
OR10AD1	121275	broad.mit.edu	37	12	48596451	48596451	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:48596451G>A	uc001rrl.1	-	1	625	c.625C>T	c.(625-627)CTC>TTC	p.L209F		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGGGGCTGAGAATTACCACG	0.537		NaN											0	0	0	0.016723	0	14	28				
KRT74	121391	broad.mit.edu	37	12	52967248	52967248	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:52967248G>A	uc001sap.1	-	1	362	c.314C>T	c.(313-315)TCT>TTT	p.S105F		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	105	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGGCACACAGACAAACATGC	0.637		NaN											0	0	0	0.015359	0	35	48				
MDM2	4193	broad.mit.edu	37	12	69207366	69207366	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:69207366A>G	uc001sui.2	+	3	419	c.132A>G	c.(130-132)TTA>TTG	p.L44L	MDM2_uc009zri.2_Silent_p.L44L|MDM2_uc009zqx.2_Silent_p.L44L|MDM2_uc009zqw.2_Silent_p.L44L|MDM2_uc001suk.2_Silent_p.L44L|MDM2_uc009zqy.1_Silent_p.L33L|MDM2_uc001sun.3_Silent_p.L33L|MDM2_uc009zqz.2_Silent_p.L38L|MDM2_uc009zra.2_Silent_p.L38L|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Silent_p.L33L|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Silent_p.L33L|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	38	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAGTTATTAAAGTCTGTTG	0.353		NaN	A		sarcoma|glioma|colorectal|other								0	0	0	0.01441	0	45	80				
PTPRB	5787	broad.mit.edu	37	12	70986212	70986212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:70986212G>A	uc001swb.3	-	5	1006	c.976C>T	c.(976-978)CAC>TAC	p.H326Y	PTPRB_uc010sto.1_Missense_Mutation_p.H326Y|PTPRB_uc010stp.1_Missense_Mutation_p.H326Y|PTPRB_uc001swc.3_Missense_Mutation_p.H544Y|PTPRB_uc001swa.3_Missense_Mutation_p.H544Y|PTPRB_uc001swd.3_Missense_Mutation_p.H543Y|PTPRB_uc009zrr.1_Missense_Mutation_p.H423Y|PTPRB_uc001swe.2_Missense_Mutation_p.H544Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	326	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCCCTTTGTGAGACAGGGTG	0.418		NaN											0	0	0	0.021553	0	6	47				
RASSF9	9182	broad.mit.edu	37	12	86199359	86199359	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:86199359G>A	uc001taf.1	-	2	768	c.429C>T	c.(427-429)CTC>CTT	p.L143L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	143					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						TTGCTGGGCTGAGCTCCCACA	0.398		NaN											0	0	0	0.01441	0	88	135				
USP44	84101	broad.mit.edu	37	12	95918479	95918479	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:95918479G>C	uc001teg.2	-	4	1854	c.1710C>G	c.(1708-1710)CTC>CTG	p.L570L	USP44_uc001teh.2_Silent_p.L570L|USP44_uc009zte.2_Silent_p.L567L	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	570					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						GGTGCAGTCTGAGAACCTGAG	0.403		NaN											0	0	0	0.013726	0	33	35				
BTBD11	121551	broad.mit.edu	37	12	108008937	108008937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:108008937C>T	uc001tmk.1	+	7	2520	c.1999C>T	c.(1999-2001)CAG>TAG	p.Q667*	BTBD11_uc009zut.1_Nonsense_Mutation_p.Q667*|BTBD11_uc001tmj.2_Nonsense_Mutation_p.Q667*|BTBD11_uc001tml.1_Nonsense_Mutation_p.Q204*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	667	ANK 2.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCCTGTAGTTCAGGTATTAAC	0.438		NaN											0	0	0	0.00308	0	8	33				
SDS	10993	broad.mit.edu	37	12	113830871	113830871	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:113830871C>T	uc001tvg.2	-	8	984	c.862G>A	c.(862-864)GAG>AAG	p.E288K		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	288					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGATTCCCCTCCAGTTGGAGC	0.652		NaN											0	0	0	0.01441	0	57	92				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr12:132547087G>A	uc001ujn.2	+	46	8210	c.8175G>A	c.(8173-8175)CAG>CAA	p.Q2725Q	EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.289		NaN											0	0	0	0.00308	0	7	42				
PARP4	143	broad.mit.edu	37	13	25074482	25074482	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:25074482C>T	uc001upl.2	-	4	479	c.373G>A	c.(373-375)GAG>AAG	p.E125K	PARP4_uc010tdc.1_Missense_Mutation_p.E125K	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	125					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTTCCTCCTCTGTGGCACTG	0.398		NaN											0	0	0	0.007291	0	26	55				
N4BP2L2	10443	broad.mit.edu	37	13	33110210	33110210	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:33110210C>A	uc001uuk.3	-	2	1133	c.955G>T	c.(955-957)GTA>TTA	p.V319L	N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.V319L|N4BP2L2_uc001uum.2_5'Flank	NM_014887	NP_055702	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	319											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAATTATTTACATAATATCCA	0.348		NaN											1	0	2.27731e-05	0.012319	2.37552e-05	22	49				
FAM48A	55578	broad.mit.edu	37	13	37618294	37618294	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:37618294T>C	uc001uwg.2	-	7	565	c.317A>G	c.(316-318)TAT>TGT	p.Y106C	FAM48A_uc010abt.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwh.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwi.2_Missense_Mutation_p.Y106C|FAM48A_uc001uwj.2_Missense_Mutation_p.Y107C|FAM48A_uc001uwk.2_Missense_Mutation_p.Y106C|FAM48A_uc010tes.1_Missense_Mutation_p.Y94C|FAM48A_uc001uwl.1_Missense_Mutation_p.Y106C	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	106					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TCCTTCTTCATAGGGCAGTCG	0.338		NaN											0	0	0	0.007291	0	26	27				
FNDC3A	22862	broad.mit.edu	37	13	49752710	49752710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:49752710G>A	uc001vcm.2	+	14	1842	c.1537G>A	c.(1537-1539)GGT>AGT	p.G513S	FNDC3A_uc001vcn.2_Missense_Mutation_p.G513S|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.G439S|FNDC3A_uc001vcq.2_Missense_Mutation_p.G457S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	513	Fibronectin type-III 3.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGGGATATGGTTTTAAGCC	0.338		NaN											0	0	0	0.006214	0	9	24				
ABCC4	10257	broad.mit.edu	37	13	95726579	95726579	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:95726579C>T	uc001vmd.3	-	23	2926	c.2807_splice	c.e23-1	p.E936_splice	ABCC4_uc010afk.2_Splice_Site_p.E889_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AACCAAGCCTCTGAATTTGAG	0.458		NaN											0	0	0	0.001984	0	7	15				
DNAJC3	5611	broad.mit.edu	37	13	96361561	96361561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:96361561G>A	uc001vmq.2	+	2	271	c.163G>A	c.(163-165)GAT>AAT	p.D55N	DNAJC3_uc001vmp.2_Missense_Mutation_p.D55N|DNAJC3_uc001vmr.2_Missense_Mutation_p.D55N	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	55	TPR 1.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAGCTAGCTGATGCTTTATC	0.358		NaN											0	0	0	0.008291	0	10	47				
LIG4	3981	broad.mit.edu	37	13	108861189	108861189	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:108861189G>C	uc001vqn.2	-	2	2701	c.2428C>G	c.(2428-2430)CTC>GTC	p.L810V	LIG4_uc001vqo.2_Missense_Mutation_p.L810V|LIG4_uc010agg.1_Missense_Mutation_p.L743V|LIG4_uc010agf.2_Missense_Mutation_p.L810V|LIG4_uc001vqp.2_Missense_Mutation_p.L810V	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	810	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACATACTGAGAGGAGAGCAA	0.403		NaN						NHEJ					0	0	0	0.008871	0	21	43				
MCF2L	23263	broad.mit.edu	37	13	113730363	113730363	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:113730363T>A	uc001vsu.2	+	12	1585	c.1563T>A	c.(1561-1563)GCT>GCA	p.A521A	MCF2L_uc001vsq.2_Silent_p.A521A|MCF2L_uc010tjr.1_Silent_p.A464A|MCF2L_uc001vsr.2_Silent_p.A468A|MCF2L_uc001vss.3_Silent_p.A462A|MCF2L_uc010tjs.1_Silent_p.A462A|MCF2L_uc001vst.1_Silent_p.A426A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	494					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCGCGGAGGCTGCCCTCCAGG	0.522		NaN											0	0	0	0.010729	0	12	15				
CDC16	8881	broad.mit.edu	37	13	115008757	115008757	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr13:115008757C>T	uc001vuk.1	+	7	765	c.567C>T	c.(565-567)CCC>CCT	p.P189P	CDC16_uc010tkm.1_3'UTR|CDC16_uc001vul.1_Silent_p.P189P|CDC16_uc001vum.1_Silent_p.P95P|CDC16_uc001vun.1_Silent_p.P188P|CDC16_uc001vuo.1_Silent_p.P188P	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATCACTACCCCTTAGCAAGC	0.308		NaN											0	0	0	0.01892	0	21	58				
RNASE9	390443	broad.mit.edu	37	14	21025034	21025034	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21025034G>A	uc010aho.2	-	4	354	c.195C>T	c.(193-195)GTC>GTT	p.V65V	RNASE9_uc001vxq.3_Silent_p.V70V|RNASE9_uc010ahp.2_Silent_p.V70V|RNASE9_uc010ahq.2_Silent_p.V70V|RNASE9_uc010ahr.2_Silent_p.V70V|RNASE9_uc010ahs.2_Silent_p.V65V|RNASE9_uc010aht.2_Silent_p.V65V|RNASE9_uc010ahu.2_Silent_p.V65V	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	65						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		CACGTCTTTTGACTTTTTCTT	0.363		NaN											0	0	0	0.01441	0	46	70				
FLJ10357	55701	broad.mit.edu	37	14	21556227	21556227	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:21556227C>T	uc001vzp.2	+	22	4517	c.4488C>T	c.(4486-4488)GCC>GCT	p.A1496A	FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.A734A	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1496					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCACCCTGGCCAGTCGAGGGA	0.567		NaN											0	0	0	0.012319	0	22	23				
AKAP6	9472	broad.mit.edu	37	14	32902953	32902953	+	Missense_Mutation	SNP	G	G	A	rs148757348		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:32902953G>A	uc001wrq.2	+	2	424	c.254G>A	c.(253-255)CGA>CAA	p.R85Q	AKAP6_uc010aml.2_Missense_Mutation_p.R82Q	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	85					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGAGGGTCCGAGACCTAACC	0.502		NaN											0	0	0	0.007413	0	20	17				
CALM1	801	broad.mit.edu	37	14	90867659	90867659	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:90867659A>G	uc001xyl.1	+	3	293	c.91A>G	c.(91-93)AAG>GAG	p.K31E	CALM1_uc010atq.1_Missense_Mutation_p.K32E|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_5'UTR	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	31	1.|EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	CATCACAACAAAGGAACTTGG	0.413		NaN											0	0	0	0.01441	0	56	27				
KIAA1409	57578	broad.mit.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:94088400G>A	uc001ybv.1	+	28	4439	c.4356G>A	c.(4354-4356)CTG>CTA	p.L1452L	KIAA1409_uc001ybs.1_Silent_p.L1430L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1607						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ATTTAGATCTGATAGATCTAT	0.473		NaN											0	0	0	0.013537	0	13	35				
TCL1B	9623	broad.mit.edu	37	14	96152883	96152883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:96152883G>A	uc001yez.2	+	1	121	c.79G>A	c.(79-81)GAG>AAG	p.E27K	TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Missense_Mutation_p.E27K	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	27										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACGAAGATGAGGAGGGGAG	0.642		NaN											0	0	0	0.012319	0	22	25				
PACS2	23241	broad.mit.edu	37	14	105859633	105859633	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr14:105859633C>G	uc001yqt.2	+	23	2687	c.2512C>G	c.(2512-2514)CTC>GTC	p.L838V	PACS2_uc001yqs.2_Missense_Mutation_p.L763V|PACS2_uc001yqv.2_Missense_Mutation_p.L842V|PACS2_uc001yqu.2_Missense_Mutation_p.L853V	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	838					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CATCAGCCGGCTCATCTGCAC	0.602		NaN											0	0	0	0.00499	0	16	23				
OTUD7A	161725	broad.mit.edu	37	15	31862286	31862286	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:31862286C>T	uc001zfq.2	-	2	359	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	OTUD7A_uc001zfr.2_Missense_Mutation_p.R89Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.R89Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	89						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTGTGGCTCTCGCTCTGGCTG	0.642		NaN											0	0	0	0.004672	0	3	44				
TGM5	9333	broad.mit.edu	37	15	43552715	43552715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:43552715C>T	uc001zrd.1	-	2	81	c.73G>A	c.(73-75)GAG>AAG	p.E25K	TGM5_uc001zre.1_Missense_Mutation_p.E25K	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	25					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACAGTGATCTCCTCCGTGTGG	0.582		NaN											0	0	0	0.009718	0	41	77				
PARP6	56965	broad.mit.edu	37	15	72552924	72552924	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:72552924C>T	uc002auc.2	-	9	1110	c.651G>A	c.(649-651)ATG>ATA	p.M217I	PARP6_uc002aua.2_Missense_Mutation_p.M82I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M217I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	217							NAD+ ADP-ribosyltransferase activity				0						TGGGGTTCTTCATGGTACAGG	0.587		NaN											0	0	0	0.01441	0	202	349				
CCDC33	80125	broad.mit.edu	37	15	74588272	74588272	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:74588272G>A	uc002axo.2	+	11	1667	c.1273G>A	c.(1273-1275)GAG>AAG	p.E425K	CCDC33_uc002axp.2_Missense_Mutation_p.E247K	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	628							protein binding			ovary(3)|skin(2)	5						TCTGGTGCCTGAGATGTCCCA	0.587		NaN											0	0	0	0.001984	0	7	12				
SH3GL3	6457	broad.mit.edu	37	15	84233946	84233946	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:84233946C>A	uc002bjw.2	+	3	370	c.175C>A	c.(175-177)CAG>AAG	p.Q59K	SH3GL3_uc010bms.2_Missense_Mutation_p.Q59K|SH3GL3_uc010uot.1_Missense_Mutation_p.Q59K|SH3GL3_uc002bjx.2_5'UTR|SH3GL3_uc002bju.2_Missense_Mutation_p.Q67K|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	59	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						TGAATATCTTCAGCCAAATCC	0.294		NaN											1	0	1.99824e-07	0.00499	2.11868e-07	16	34				
ACAN	176	broad.mit.edu	37	15	89379446	89379446	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr15:89379446T>A	uc010upo.1	+	2	383	c.9T>A	c.(7-9)ACT>ACA	p.T3T	ACAN_uc002bmx.2_Silent_p.T3T|ACAN_uc010upp.1_Silent_p.T3T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	3					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTATGACCACTTTACTCTGGG	0.468		NaN											0	0	0	0.009096	0	4	14				
RHBDL1	9028	broad.mit.edu	37	16	726483	726483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726483G>A	uc002cis.1	+	1	409	c.382G>A	c.(382-384)GAG>AAG	p.E128K	RHBDL1_uc002cir.1_Missense_Mutation_p.E63K|RHBDL1_uc010uun.1_Missense_Mutation_p.E63K	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	128					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				CTGCTACCAGGAGCTGGTGGA	0.706		NaN											0	0	0	0.013537	0	9	9				
RHBDL1	9028	broad.mit.edu	37	16	726497	726497	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:726497G>A	uc002cis.1	+	1	423	c.396G>A	c.(394-396)CTG>CTA	p.L132L	RHBDL1_uc002cir.1_Silent_p.L67L|RHBDL1_uc010uun.1_Silent_p.L67L	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	132					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				TGGTGGACCTGGTCAGTGCCA	0.706		NaN											0	0	0	0.020292	0	14	7				
BAIAP3	8938	broad.mit.edu	37	16	1398294	1398294	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:1398294G>C	uc002clk.1	+	33	3452	c.3452G>C	c.(3451-3453)AGA>ACA	p.R1151T	BAIAP3_uc002clj.2_Missense_Mutation_p.R1133T|BAIAP3_uc010uuz.1_Missense_Mutation_p.R1116T|BAIAP3_uc010uva.1_Missense_Mutation_p.R1088T|BAIAP3_uc010uvc.1_Missense_Mutation_p.R1080T	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1151					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TGCCGGCCCAGAGCCCAGGGT	0.731		NaN											0	0	0	0.004672	0	2	12				
CREBBP	1387	broad.mit.edu	37	16	3820792	3820792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820792G>A	uc002cvv.2	-	14	2863	c.2659C>T	c.(2659-2661)CAG>TAG	p.Q887*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q849*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	887					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGATGGCTGAGTGGGAGCT	0.642		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.025465	0	40	14		Valid		
CREBBP	1387	broad.mit.edu	37	16	3820952	3820952	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:3820952G>C	uc002cvv.2	-	14	2703	c.2499C>G	c.(2497-2499)CTC>CTG	p.L833L	CREBBP_uc002cvw.2_Silent_p.L795L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	833					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCAGCATGTTGAGAGGGTTAG	0.542		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.01441	0	58	27				
GLYR1	84656	broad.mit.edu	37	16	4862198	4862198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:4862198G>A	uc002cxx.3	-	13	1208	c.1171C>T	c.(1171-1173)CAG>TAG	p.Q391*	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Nonsense_Mutation_p.Q305*|GLYR1_uc002cya.2_Nonsense_Mutation_p.Q385*|GLYR1_uc010uxv.1_Nonsense_Mutation_p.Q310*	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	391					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GACAGCTGCTGATTCCCTGAG	0.587		NaN											0	0	0	0.009096	0	4	24				
MKL2	57496	broad.mit.edu	37	16	14340888	14340888	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:14340888G>C	uc010uza.1	+	12	1926	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q	MKL2_uc002dcg.2_Missense_Mutation_p.E591Q|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	580	Required for interaction with itself and with MKL1.|Potential.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						ACTGGAACAAGAGCAGAAGCT	0.532		NaN											0	0	0	0.00308	0	7	38				
PALB2	79728	broad.mit.edu	37	16	23646501	23646501	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:23646501C>G	uc002dlx.1	-	4	1566	c.1366G>C	c.(1366-1368)GAG>CAG	p.E456Q		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	456					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		TCAGTTTCCTCATTGGAAAGG	0.378		NaN	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.013726	0	33	86				
ATP2A1	487	broad.mit.edu	37	16	28893844	28893844	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28893844G>A	uc002dro.1	+	5	581	c.397G>A	c.(397-399)GAC>AAC	p.D133N	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.D133N|ATP2A1_uc002drp.1_Missense_Mutation_p.D8N	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	133	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTACCGGGCTGACCGCAAGTC	0.627		NaN											0	0	0	0.020292	0	14	44				
CD19	930	broad.mit.edu	37	16	28950083	28950083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:28950083G>A	uc002drs.2	+	13	1635	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.E526K	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	525	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						ACCCAATCATGAGGAAGGTGG	0.622		NaN											0	0	0	0.014323	0	21	31				
PPP4C	5531	broad.mit.edu	37	16	30092610	30092610	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:30092610G>A	uc002dwe.2	+	3	273	c.129G>A	c.(127-129)CAG>CAA	p.Q43Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.Q43Q|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Intron	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	43					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GCAACGTGCAGAGGGTGGACT	0.567		NaN											0	0	0	0.001984	0	7	110				
ITFG1	81533	broad.mit.edu	37	16	47347638	47347638	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:47347638A>G	uc002eet.2	-	9	959	c.897_splice	c.e9+1	p.Q299_splice	ITFG1_uc010vgg.1_Splice_Site_p.Q44_splice|ITFG1_uc010vgh.1_Splice_Site_p.Q186_splice	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AACTTGATATACCTGCTTCAT	0.363		NaN											0	0	0	0.008871	0	18	31				
RBL2	5934	broad.mit.edu	37	16	53504333	53504333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53504333G>C	uc002ehi.3	+	16	2402	c.2284G>C	c.(2284-2286)GTC>CTC	p.V762L	RBL2_uc002ehj.2_Missense_Mutation_p.V472L|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	762	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATTCTTCCCTGTCCAAGTCAA	0.502		NaN											0	0	0	0.010729	0	12	36				
FTO	79068	broad.mit.edu	37	16	53878094	53878094	+	Missense_Mutation	SNP	C	C	T	rs76762929	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:53878094C>T	uc002ehr.2	+	4	1001	c.779C>T	c.(778-780)TCT>TTT	p.S260F	FTO_uc010vha.1_5'UTR	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	260	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GAGGATGACTCTCATCTCGAA	0.403		NaN											0	0	0	0.012319	0	21	34				
IRX3	79191	broad.mit.edu	37	16	54319259	54319259	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:54319259G>A	uc002eht.1	-	2	950	c.534C>T	c.(532-534)TTC>TTT	p.F178F		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	178	Homeobox; TALE-type.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGCGTTGGCGAACCAGGTGG	0.607		NaN											0	0	0	0.00632	0	24	52				
AP1G1	164	broad.mit.edu	37	16	71805129	71805129	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:71805129G>A	uc010cgg.2	-	5	809	c.495C>T	c.(493-495)ATC>ATT	p.I165I	AP1G1_uc002fba.2_Silent_p.I165I|AP1G1_uc002fbb.2_Silent_p.I188I|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.I247I	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	165					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GAACTTTCCTGATGACATGAA	0.318		NaN											0	0	0	0.00499	0	15	18				
PMFBP1	83449	broad.mit.edu	37	16	72159145	72159145	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:72159145C>T	uc002fcc.3	-	16	2600	c.2428G>A	c.(2428-2430)GAG>AAG	p.E810K	PMFBP1_uc002fcd.2_Missense_Mutation_p.E805K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E660K|PMFBP1_uc010cgo.1_Missense_Mutation_p.E101K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	810	Potential.									ovary(2)	2		Ovarian(137;0.179)				ACCTCCAGCTCACTCTCCTGG	0.498		NaN									OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.025465	0	40	106				
NECAB2	54550	broad.mit.edu	37	16	84028251	84028251	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84028251G>C	uc002fhd.2	+	8	770	c.753G>C	c.(751-753)CAG>CAC	p.Q251H	NECAB2_uc002fhe.2_Missense_Mutation_p.Q168H	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	251					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						TGGAAGCCCAGATCAGCCGCT	0.602		NaN											0	0	0	0.021553	0	5	31				
LRRC50	123872	broad.mit.edu	37	16	84182710	84182710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr16:84182710G>A	uc002fhl.3	+	2	404	c.223G>A	c.(223-225)GCA>ACA	p.A75T	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	75			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						TGGTCACTTCGCACACCCAAG	0.413		NaN							Kartagener_syndrome				0	0	0	0.010818	0	33	48				
TRPV3	162514	broad.mit.edu	37	17	3433367	3433367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:3433367G>A	uc002fvt.1	-	9	1518	c.1196C>T	c.(1195-1197)ACG>ATG	p.T399M	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T383M|TRPV3_uc010vri.1_Missense_Mutation_p.T354M|TRPV3_uc010vrj.1_Missense_Mutation_p.T383M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T383M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T399M|TRPV3_uc002fvu.2_Missense_Mutation_p.T399M|TRPV3_uc010vrn.1_Translation_Start_Site	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	399	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGAGTTGTCCGTGGTGGTGTC	0.607		NaN											0	0	0	0.015359	0	30	18				
GPS2	2874	broad.mit.edu	37	17	7217458	7217458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:7217458G>T	uc002gfv.1	-	4	601	c.338C>A	c.(337-339)TCA>TAA	p.S113*	GPS2_uc002gfw.1_Nonsense_Mutation_p.S75*|GPS2_uc002gfx.1_Nonsense_Mutation_p.S113*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.S113*	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	113					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)				GTATGCAGCTGATGTTAGGGT	0.488		NaN											1	0	1.93748e-29	0.01441	2.1423e-29	54	36				
MYH13	8735	broad.mit.edu	37	17	10219314	10219314	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:10219314A>G	uc002gmk.1	-	28	3857	c.3767T>C	c.(3766-3768)GTA>GCA	p.V1256A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1256	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TTGATCTTCTACCGTCCGGCA	0.428		NaN											0	0	0	0.028581	0	17	39				
MYO18A	399687	broad.mit.edu	37	17	27437053	27437053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:27437053C>T	uc002hdt.1	-	19	3312	c.3154G>A	c.(3154-3156)GAG>AAG	p.E1052K	MYO18A_uc010wbc.1_Missense_Mutation_p.E594K|MYO18A_uc002hds.2_Missense_Mutation_p.E594K|MYO18A_uc010csa.1_Missense_Mutation_p.E1052K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1052K|MYO18A_uc010wbd.1_Missense_Mutation_p.E721K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1052	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCAGCCCTCAGCTACAGGC	0.647		NaN											0	0	0	0.004482	0	8	24				
ACCN1	40	broad.mit.edu	37	17	31344625	31344625	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:31344625C>G	uc002hhu.2	-	8	1640	c.1366G>C	c.(1366-1368)GAG>CAG	p.E456Q	ACCN1_uc002hht.2_Missense_Mutation_p.E507Q	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	456	Cytoplasmic (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.L456fs*2(1)		ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	AATCTTACCTCATAAATATAA	0.473		NaN											0	0	0	0.020292	0	13	24				
ERBB2	2064	broad.mit.edu	37	17	37872839	37872839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:37872839C>T	uc002hso.2	+	14	1956	c.1718C>T	c.(1717-1719)TCA>TTA	p.S573L	ERBB2_uc002hsm.2_Missense_Mutation_p.S543L|ERBB2_uc010cwa.2_Missense_Mutation_p.S558L|ERBB2_uc002hsp.2_Missense_Mutation_p.S376L|ERBB2_uc010cwb.2_Missense_Mutation_p.S573L|ERBB2_uc010wek.1_Missense_Mutation_p.S297L|ERBB2_uc002hsl.2_Missense_Mutation_p.S543L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	573	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGAATGGCTCAGTGACCTGT	0.637		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.010729	0	10	19		Valid		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:39240627T>C	uc010wfn.1	+	1	169	c.169T>C	c.(169-171)TCT>CCT	p.S57P		NM_033061	NP_149050			keratin associated protein 4-7												0						GTGCTGCCAGTCTGTGTGCTG	0.493		NaN											0	0	0	0.009096	0	3	50				
NBR1	4077	broad.mit.edu	37	17	41355748	41355748	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355748C>T	uc010czd.2	+	20	2812	c.2672C>T	c.(2671-2673)TCT>TTT	p.S891F	NBR1_uc010diz.2_Missense_Mutation_p.S891F|NBR1_uc010whu.1_Missense_Mutation_p.S891F|NBR1_uc010whv.1_Missense_Mutation_p.S891F|NBR1_uc010whw.1_Intron	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	891					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GGGGCTTTGTCTGTTGCTGCC	0.493		NaN											0	0	0	0.004482	0	7	11				
NBR1	4077	broad.mit.edu	37	17	41355760	41355760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:41355760C>T	uc010czd.2	+	20	2824	c.2684C>T	c.(2683-2685)TCT>TTT	p.S895F	NBR1_uc010diz.2_Missense_Mutation_p.S895F|NBR1_uc010whu.1_Missense_Mutation_p.S895F|NBR1_uc010whv.1_Missense_Mutation_p.S895F|NBR1_uc010whw.1_Intron	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	895					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GTTGCTGCCTCTGCATACAAG	0.502		NaN											0	0	0	0.001984	0	7	10				
HEXIM1	10614	broad.mit.edu	37	17	43227360	43227360	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:43227360C>T	uc002iig.2	+	1	2677	c.803C>T	c.(802-804)TCG>TTG	p.S268L		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	268					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CGGGACTTCTCGGAGACGTAC	0.602		NaN											0	0	0	0.007413	0	19	31				
DLX3	1747	broad.mit.edu	37	17	48070801	48070801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:48070801G>A	uc002ipy.2	-	2	705	c.479C>T	c.(478-480)GCC>GTC	p.A160V		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	160	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCCAGCTCGGCGCGCTCGGG	0.711		NaN											0	0	0	0.014758	0	3	14				
HLF	3131	broad.mit.edu	37	17	53345431	53345431	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:53345431G>C	uc002iug.1	+	2	960	c.435G>C	c.(433-435)CAG>CAC	p.Q145H	HLF_uc010dce.1_Missense_Mutation_p.Q60H|HLF_uc002iuh.2_Missense_Mutation_p.Q60H|HLF_uc010wni.1_Missense_Mutation_p.R94T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	145					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						ACTGTATGCAGAGCCCCATCA	0.582		NaN	T	TCF3	ALL								0	0	0	0.013726	0	34	61				
LRRC37A3	374819	broad.mit.edu	37	17	62865278	62865278	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:62865278G>C	uc002jey.2	-	8	3444	c.2913C>G	c.(2911-2913)CTC>CTG	p.L971L	LRRC37A3_uc010wqg.1_Silent_p.L89L|LRRC37A3_uc010wqf.1_Silent_p.L9L|LRRC37A3_uc010dek.1_5'UTR	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	971	Extracellular (Potential).|LRR 8.					integral to membrane					0						GATTGTGATTGAGAATTCTGA	0.318		NaN											0	0	0	0.025465	0	32	104				
ABCA5	23461	broad.mit.edu	37	17	67270112	67270112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:67270112G>A	uc002jif.2	-	19	3970	c.2752C>T	c.(2752-2754)CAA>TAA	p.Q918*	ABCA5_uc002jic.2_Nonsense_Mutation_p.Q141*|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q918*|ABCA5_uc002jih.2_Nonsense_Mutation_p.Q918*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.Q918*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	918					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GCAGAATTTTGAAGAAGCAGA	0.393		NaN											0	0	0	0.015359	0	34	49				
GGA3	23163	broad.mit.edu	37	17	73235955	73235955	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:73235955C>A	uc002jni.1	-	13	1507	c.1498G>T	c.(1498-1500)GTC>TTC	p.V500F	GGA3_uc002jnj.1_Missense_Mutation_p.V467F|GGA3_uc010wrw.1_Missense_Mutation_p.V378F|GGA3_uc002jnk.1_Missense_Mutation_p.V428F|GGA3_uc010wrx.1_Missense_Mutation_p.V378F|GGA3_uc010wry.1_Missense_Mutation_p.V428F	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	500	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGCCCAGGGACTGCGGGCTCA	0.617		NaN											1	0	3.07112e-06	0.010729	3.22968e-06	8	24				
FSCN2	25794	broad.mit.edu	37	17	79496104	79496104	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr17:79496104C>G	uc010wup.1	+	1	688	c.547C>G	c.(547-549)CGG>GGG	p.R183G	FSCN2_uc010wuo.1_Missense_Mutation_p.R183G	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	183					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCGGAGCCGACGGTACTGCCT	0.682		NaN											0	0	0	0.009096	0	4	7				
TYMS	7298	broad.mit.edu	37	18	670747	670747	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670747G>A	uc010dka.1	+	5	751	c.612G>A	c.(610-612)GTG>GTA	p.V204V	TYMS_uc010dkb.1_Silent_p.V170V|TYMS_uc010dkc.1_Silent_p.V121V	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	204					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	TCTATGTGGTGAACAGTGAGC	0.552		NaN											0	0	0	0.013726	0	32	45				
TYMS	7298	broad.mit.edu	37	18	670754	670754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:670754G>A	uc010dka.1	+	5	758	c.619G>A	c.(619-621)GAG>AAG	p.E207K	TYMS_uc010dkb.1_Missense_Mutation_p.E173K|TYMS_uc010dkc.1_Missense_Mutation_p.E124K	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	207					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GGTGAACAGTGAGCTGTCCTG	0.567		NaN											0	0	0	0.012213	0	30	46				
CHMP1B	57132	broad.mit.edu	37	18	11851604	11851604	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:11851604G>A	uc002kqe.2	+	1	216	c.94G>A	c.(94-96)GAA>AAA	p.E32K	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	32	Potential.				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						GGAAAAGGCCGAAAAGGCCAA	0.473		NaN											0	0	0	0.021553	0	6	9				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:14513764C>T	uc010dln.2	-	10	1884	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	477										skin(3)	3						AAGTTGTTTCCGGGTATCATT	0.358		NaN											0	0	0	0.014758	0	4	37				
RPRD1A	55197	broad.mit.edu	37	18	33607165	33607165	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:33607165G>A	uc002kzf.1	-	5	601	c.595C>T	c.(595-597)CTA>TTA	p.L199L	RPRD1A_uc002kze.1_Silent_p.L163L|RPRD1A_uc002kzg.2_Silent_p.L199L|RPRD1A_uc010dmw.2_Silent_p.L163L|RPRD1A_uc010dmx.2_Silent_p.L199L	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	199										ovary(1)|breast(1)	2						TTATCTAATAGAGATACTTCT	0.368		NaN											0	0	0	0.027356	0	26	60				
MYO5B	4645	broad.mit.edu	37	18	47363122	47363122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr18:47363122C>G	uc002leb.2	-	38	5560	c.5272G>C	c.(5272-5274)GAG>CAG	p.E1758Q	MYO5B_uc002ldz.2_Missense_Mutation_p.E328Q|MYO5B_uc002lea.2_Missense_Mutation_p.E873Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1758	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CAGATAGCCTCTGCGTCCTCC	0.532		NaN											0	0	0	0.021523	0	23	30				
REXO1	57455	broad.mit.edu	37	19	1818820	1818820	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:1818820G>A	uc002lua.3	-	9	2882	c.2787C>T	c.(2785-2787)CTC>CTT	p.L929L	REXO1_uc010dsq.2_Silent_p.L238L|REXO1_uc010xgs.1_5'UTR|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	929						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACTCCCTGAGGCGGCTGT	0.677		NaN											0	0	0	0.004482	0	8	17				
TICAM1	148022	broad.mit.edu	37	19	4816641	4816641	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816641C>A	uc002mbi.2	-	2	2000	c.1749G>T	c.(1747-1749)CAG>CAT	p.Q583H		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	583	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTGCTCCATCTGTGCCTGGT	0.632		NaN											1	0	3.59834e-05	0.021553	3.73339e-05	5	42				
TICAM1	148022	broad.mit.edu	37	19	4816911	4816911	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:4816911C>G	uc002mbi.2	-	2	1730	c.1479G>C	c.(1477-1479)GAG>GAC	p.E493D		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	493				E->A: Loss of TCAM1-induced NF-kappa-B and IRF3 activation.	apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGGGAGCTCTCCAGGGGCA	0.652		NaN											0	0	0	0.001984	0	6	29				
INSR	3643	broad.mit.edu	37	19	7267597	7267597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:7267597C>T	uc002mgd.1	-	2	520	c.411G>A	c.(409-411)ATG>ATA	p.M137I	INSR_uc002mge.1_Missense_Mutation_p.M137I|INSR_uc002mgf.2_Missense_Mutation_p.M137I	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	137					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTGATGTTCATCAGGTTGT	0.522		NaN											0	0	0	0.020292	0	15	44				
MUC16	94025	broad.mit.edu	37	19	8999519	8999519	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:8999519G>C	uc002mkp.2	-	56	40860	c.40656C>G	c.(40654-40656)ACC>ACG	p.T13552T	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.T369T|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGGGCGGTAGGTGCAGATGG	0.597		NaN											0	0	0	0.027894	0	40	63				
QTRT1	81890	broad.mit.edu	37	19	10812162	10812162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:10812162C>T	uc002mpr.2	+	1	51	c.26C>T	c.(25-27)TCC>TTC	p.S9F		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	9					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACCCAGGCTTCCCTGGAGTCG	0.692		NaN											0	0	0	0.004672	0	3	14				
SMARCA4	6597	broad.mit.edu	37	19	11123707	11123707	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:11123707C>A	uc002mqf.3	+	16	2641	c.2357C>A	c.(2356-2358)ACC>AAC	p.T786N	SMARCA4_uc010dxp.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxo.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqg.1_Missense_Mutation_p.T786N|SMARCA4_uc010dxq.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxr.2_Missense_Mutation_p.T786N|SMARCA4_uc002mqj.3_Missense_Mutation_p.T786N|SMARCA4_uc010dxs.2_Missense_Mutation_p.T786N|SMARCA4_uc010dxt.1_Missense_Mutation_p.T6N	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	786	Helicase ATP-binding.|ATP (Potential).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGGGGAAGACCATCCAGACC	0.577		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				1	0	3.52763e-06	0.00499	3.69971e-06	18	26		Valid		
ZNF208	7757	broad.mit.edu	37	19	22156562	22156562	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:22156562T>C	uc002nqp.2	-	4	1423	c.1274A>G	c.(1273-1275)TAC>TGC	p.Y425C	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.388		NaN											0	0	0	0.013726	0	33	53				
ZNF146	7705	broad.mit.edu	37	19	36728009	36728009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:36728009C>T	uc002odq.3	+	4	2190	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	ZNF146_uc010eet.2_Nonsense_Mutation_p.Q223*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.Q223*	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	223	Interaction with TERF2IP.|C2H2-type 8.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					AGCCTTCTCTCAGAGCTCATC	0.443		NaN											0	0	0	0.011902	0	47	75				
ACTN4	81	broad.mit.edu	37	19	39214966	39214966	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:39214966C>A	uc002oja.1	+	15	1921	c.1862C>A	c.(1861-1863)TCC>TAC	p.S621Y	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	621	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCATCAACTCCAAGTGGGAG	0.667		NaN											1	0	3.07112e-06	0.010729	3.22968e-06	12	16				
SPTBN4	57731	broad.mit.edu	37	19	41008156	41008156	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:41008156C>T	uc002ony.2	+	9	1105	c.1019C>T	c.(1018-1020)TCC>TTC	p.S340F	SPTBN4_uc002onx.2_Missense_Mutation_p.S340F|SPTBN4_uc002onz.2_Missense_Mutation_p.S340F	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	340	Spectrin 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTGCCAACTCCTTAAGTGGG	0.602		NaN											0	0	0	0.00499	0	17	59				
PSG2	5670	broad.mit.edu	37	19	43575862	43575862	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:43575862G>C	uc002ovr.2	-	4	1047	c.954C>G	c.(952-954)GTC>GTG	p.V318V	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.V318V|PSG2_uc010eiq.1_Silent_p.V318V|PSG2_uc002ovs.3_Silent_p.V318V|PSG2_uc002ovt.3_Silent_p.V318V	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	318					cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				CAGAGACTTTGACTGTCAACG	0.458		NaN											0	0	0	0.01441	0	93	152				
ZNF230	7773	broad.mit.edu	37	19	44514437	44514437	+	Silent	SNP	G	G	A	rs150544790		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44514437G>A	uc002oyb.1	+	5	497	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	82	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AGACTATTGCGGAAGCAGGAC	0.423		NaN											0	0	0	0.004672	0	3	36				
ZNF180	7733	broad.mit.edu	37	19	44981167	44981167	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:44981167G>A	uc002ozf.3	-	5	1813	c.1531C>T	c.(1531-1533)CAT>TAT	p.H511Y	ZNF180_uc002ozh.3_Missense_Mutation_p.H168Y|ZNF180_uc002ozi.3_Missense_Mutation_p.H484Y|ZNF180_uc002ozg.3_Missense_Mutation_p.H510Y|ZNF180_uc010ejm.2_Missense_Mutation_p.H486Y	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	511	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				GTTCTCTGATGAGCAACAAGT	0.393		NaN											0	0	0	0.00499	0	18	86				
PNMAL1	55228	broad.mit.edu	37	19	46973831	46973831	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:46973831C>A	uc002peq.3	-	2	768	c.462G>T	c.(460-462)CTG>CTT	p.L154L	PNMAL1_uc002per.3_Silent_p.L154L	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	154											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCACTGCTCCCAGAAGCACCc	0.343		NaN											1	0	1.74807e-11	0.010818	1.89497e-11	30	70				
SYT3	84258	broad.mit.edu	37	19	51129249	51129249	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51129249T>C	uc002pst.2	-	5	1941	c.1307A>G	c.(1306-1308)AAC>AGC	p.N436S	SYT3_uc002psv.2_Missense_Mutation_p.N436S|SYT3_uc010ycd.1_Missense_Mutation_p.N436S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	436	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGTGAGAAGTTGAGCTCCCC	0.557		NaN											0	0	0	0.001984	0	6	10				
SIGLEC10	89790	broad.mit.edu	37	19	51914402	51914402	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:51914402C>T	uc002pwo.2	-	11	2661	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	SIGLEC10_uc002pwp.2_Missense_Mutation_p.R624Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R529Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R587Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R497Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R539Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.R399Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	682	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTTGGGCATCCGGGCCTCAGG	0.572		NaN											0	0	0	0.016522	0	25	77				
NLRP2	55655	broad.mit.edu	37	19	55494635	55494635	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:55494635G>A	uc002qij.2	+	6	1655	c.1569G>A	c.(1567-1569)GAG>GAA	p.E523E	NLRP2_uc010yfp.1_Silent_p.E500E|NLRP2_uc010esn.2_Silent_p.E499E|NLRP2_uc010eso.2_Silent_p.E520E|NLRP2_uc010esp.2_Silent_p.E501E	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGGAAGAGGATAGGGACG	0.557		NaN											0	0	0	0.007413	0	19	58				
NLRP9	338321	broad.mit.edu	37	19	56223188	56223188	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56223188C>T	uc002qly.2	-	8	2849	c.2821G>A	c.(2821-2823)GAC>AAC	p.D941N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	941						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGGGCACAGTCCGGGTGGCTC	0.552		NaN											0	0	0	0.014758	0	5	25				
NLRP4	147945	broad.mit.edu	37	19	56369819	56369819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:56369819G>A	uc002qmd.3	+	3	1482	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K	NLRP4_uc002qmf.2_Missense_Mutation_p.E279K|NLRP4_uc010etf.2_Missense_Mutation_p.E185K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGCAAGAGATGCAGAA	0.507		NaN											0	0	0	0.01892	0	25	43				
ZNF471	57573	broad.mit.edu	37	19	57027736	57027736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:57027736G>A	uc002qnh.2	+	3	259	c.126G>A	c.(124-126)ATG>ATA	p.M42I		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACAGGAGTATGATGTTGGAGA	0.393		NaN											0	0	0	0.012319	0	21	96				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	3.59834e-05	0.021553	3.73339e-05	6	8				
PXDN	7837	broad.mit.edu	37	2	1653407	1653407	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:1653407G>T	uc002qxa.2	-	17	2209	c.2145C>A	c.(2143-2145)AAC>AAA	p.N715K		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	715					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTGCGATGAGGTTCAGGTACT	0.592		NaN											1	0	7.83172e-31	0.019004	8.68445e-31	37	43				
ASXL2	55252	broad.mit.edu	37	2	25978935	25978935	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25978935C>G	uc002rgs.2	-	9	1209	c.988G>C	c.(988-990)GAA>CAA	p.E330Q	ASXL2_uc002rgt.1_Missense_Mutation_p.E70Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAATTCATTGTTAAGG	0.448		NaN											0	0	0	0.01441	0	41	93				
ASXL2	55252	broad.mit.edu	37	2	25994376	25994376	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994376G>A	uc002rgs.2	-	5	658	c.437C>T	c.(436-438)TCA>TTA	p.S146L	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	146	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTGGGTGATGGGCAGCC	0.443		NaN											0	0	0	0.010729	0	8	28				
ASXL2	55252	broad.mit.edu	37	2	25994388	25994388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:25994388G>T	uc002rgs.2	-	5	646	c.425C>A	c.(424-426)TCA>TAA	p.S142*	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	142	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCAGCCTGACTGCGGGGA	0.453		NaN											1	0	6.40141e-05	0.010729	6.60626e-05	8	30				
OTOF	9381	broad.mit.edu	37	2	26684967	26684967	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:26684967C>T	uc002rhk.2	-	42	5402	c.5275G>A	c.(5275-5277)GAC>AAC	p.D1759N	OTOF_uc010yla.1_Missense_Mutation_p.D489N|OTOF_uc002rhh.2_Missense_Mutation_p.D992N|OTOF_uc002rhi.2_Missense_Mutation_p.D1069N|OTOF_uc002rhj.2_Missense_Mutation_p.D992N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1759	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAAGATGTCACTGGACTTC	0.617		NaN											0	0	0	0.01441	0	74	100				
DNAJC5G	285126	broad.mit.edu	37	2	27501157	27501157	+	Silent	SNP	G	G	A	rs145408176		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:27501157G>A	uc002rjl.1	+	5	895	c.477G>A	c.(475-477)GGG>GGA	p.G159G	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.G72E|DNAJC5G_uc002rjm.1_Silent_p.G159G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	159					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGATAGTGGGAGAAAATATC	0.398		NaN											0	0	0	0.004672	0	3	24				
FEZ2	9637	broad.mit.edu	37	2	36808439	36808439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:36808439C>T	uc002rph.2	-	4	675	c.628G>A	c.(628-630)GAA>AAA	p.E210K	FEZ2_uc002rpe.2_Missense_Mutation_p.E39K|FEZ2_uc002rpf.2_Missense_Mutation_p.E39K|FEZ2_uc002rpg.2_Missense_Mutation_p.E210K|FEZ2_uc002rpi.2_Missense_Mutation_p.E65K|FEZ2_uc002rpj.2_Missense_Mutation_p.E210K	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	210					axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				TTACTCTCTTCATAACTGCCG	0.408		NaN											0	0	0	0.01441	0	90	158				
THADA	63892	broad.mit.edu	37	2	43458382	43458382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:43458382G>C	uc002rsw.3	-	38	5919	c.5567C>G	c.(5566-5568)TCA>TGA	p.S1856*	THADA_uc010far.2_Nonsense_Mutation_p.S1051*|THADA_uc002rsx.3_Nonsense_Mutation_p.S1856*|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1856							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCGGACTTTGAGAGGAGACA	0.512		NaN											0	0	0	0.016723	0	11	16				
WBP1	23559	broad.mit.edu	37	2	74686773	74686773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:74686773C>T	uc002slj.1	+	2	226	c.73C>T	c.(73-75)CGA>TGA	p.R25*	WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Intron|WBP1_uc002sll.1_RNA	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	WW domain binding protein 1	25							WW domain binding				0						CCCGCAGCTTCGAGAGCTGTG	0.592		NaN											0	0	0	0.01892	0	26	63				
LRRTM1	347730	broad.mit.edu	37	2	80529770	80529770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80529770G>A	uc002sok.1	-	2	1445	c.1175C>T	c.(1174-1176)ACC>ATC	p.T392I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	392	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGCGAGCGTGGTGGCCGAGCT	0.721		NaN								HNSCC(69;0.2)			0	0	0	0.004482	0	8	31				
CTNNA2	1496	broad.mit.edu	37	2	80646667	80646667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:80646667G>A	uc010ysh.1	+	8	1236	c.1231G>A	c.(1231-1233)GAA>AAA	p.E411K	CTNNA2_uc010yse.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E411K|CTNNA2_uc010ysi.1_Missense_Mutation_p.E43K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	411					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGCGGAAATGAAAAGGAAGT	0.458		NaN											0	0	0	0.014758	0	4	83				
VWA3B	200403	broad.mit.edu	37	2	98846623	98846623	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:98846623G>C	uc002syo.2	+	16	2525	c.2261G>C	c.(2260-2262)TGG>TCG	p.W754S	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.W273S|VWA3B_uc002sym.2_Missense_Mutation_p.W754S|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.W411S|VWA3B_uc002syp.1_Missense_Mutation_p.W146S|VWA3B_uc002syq.1_Missense_Mutation_p.W30S|VWA3B_uc002syr.1_Missense_Mutation_p.W71S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	754										ovary(3)|large_intestine(2)|skin(1)	6						AAGGGACCATGGGGCCTTTCA	0.413		NaN											0	0	0	0.01892	0	23	36				
AFF3	3899	broad.mit.edu	37	2	100210124	100210124	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:100210124C>G	uc002tag.2	-	14	2235	c.1999G>C	c.(1999-2001)GAG>CAG	p.E667Q	AFF3_uc002taf.2_Missense_Mutation_p.E692Q|AFF3_uc010fiq.1_Missense_Mutation_p.E667Q|AFF3_uc010yvr.1_Missense_Mutation_p.E820Q|AFF3_uc002tah.1_Missense_Mutation_p.E692Q	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	667					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GACTCTGTCTCAATGAACTCC	0.622		NaN											0	0	0	0.01441	0	47	94				
NPAS2	4862	broad.mit.edu	37	2	101580599	101580599	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:101580599C>T	uc002tap.1	+	8	964	c.678C>T	c.(676-678)TTC>TTT	p.F226F	NPAS2_uc010yvt.1_Silent_p.F291F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	226					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						AGGTTTGCTTCATTGCCACCG	0.493		NaN											0	0	0	0.015359	0	33	49				
POLR2D	5433	broad.mit.edu	37	2	128605685	128605685	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:128605685T>C	uc002tpj.2	-	4	480	c.425A>G	c.(424-426)TAT>TGT	p.Y142C	uc010fmc.2_5'Flank|POLR2D_uc002tpk.2_Missense_Mutation_p.Y110C	NM_004805	NP_004796	O15514	RPB4_HUMAN	DNA directed RNA polymerase II polypeptide D	142					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TGGAGATTAATACTGAAAGCT	0.458		NaN											0	0	0	0.024245	0	14	31				
LCT	3938	broad.mit.edu	37	2	136570082	136570082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:136570082G>A	uc002tuu.1	-	7	2163	c.2152C>T	c.(2152-2154)CCC>TCC	p.P718S		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	718	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGTCTGGGGCCACACATGG	0.517		NaN											0	0	0	0.014323	0	22	41				
SCN1A	6323	broad.mit.edu	37	2	166848324	166848324	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:166848324G>C	uc010zcz.1	-	26	5446	c.5428C>G	c.(5428-5430)CAG>GAG	p.Q1810E		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1821	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCATGAACTGAGTTGCATCG	0.443		NaN											0	0	0	0.010818	0	34	97				
TTN	7273	broad.mit.edu	37	2	179400360	179400360	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:179400360C>G	uc010zfg.1	-	307	93502	c.93278G>C	c.(93277-93279)AGA>ACA	p.R31093T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24788T|TTN_uc010zfi.1_Missense_Mutation_p.R24721T|TTN_uc010zfj.1_Missense_Mutation_p.R24596T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32020							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATCTTTTCTCTCTACCCC	0.433		NaN											0	0	0	0.01441	0	48	95				
TTN	7273	broad.mit.edu	37	2	179584463	179584463	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:179584463G>C	uc010zfg.1	-	79	20248	c.20024C>G	c.(20023-20025)TCA>TGA	p.S6675*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S3336*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7602							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTTGGCTGAGAGTTCTGG	0.433		NaN											0	0	0	0.027356	0	29	45				
RFTN2	130132	broad.mit.edu	37	2	198498722	198498722	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:198498722C>G	uc002uuo.3	-	4	841	c.439_splice	c.e4-1	p.I147_splice		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane					0						CGACATTAATCTGATATTTAA	0.318		NaN											0	0	0	0.024245	0	16	39				
ZDBF2	57683	broad.mit.edu	37	2	207175392	207175392	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:207175392G>A	uc002vbp.2	+	5	6390	c.6140G>A	c.(6139-6141)CGG>CAG	p.R2047Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2047							nucleic acid binding|zinc ion binding			ovary(3)	3						AAATATAAACGGAATATCTTT	0.358		NaN											0	0	0	0.004482	0	9	19				
PLCD4	84812	broad.mit.edu	37	2	219483480	219483480	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:219483480G>T	uc002vij.1	+	4	555	c.360G>T	c.(358-360)CAG>CAT	p.Q120H	PLCD4_uc010zkj.1_Missense_Mutation_p.Q67H|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	120	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGCTCCAGCTGTTGGTGG	0.602		NaN											1	0	0.000602214	0.014758	0.000618188	4	15				
PTPRN	5798	broad.mit.edu	37	2	220161229	220161229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:220161229C>A	uc002vkz.2	-	17	2409	c.2320G>T	c.(2320-2322)GAC>TAC	p.D774Y	PTPRN_uc010zlc.1_Missense_Mutation_p.D684Y|PTPRN_uc002vla.2_Missense_Mutation_p.D745Y|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	774	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ATCCGAGGGTCATGCTCAATC	0.592		NaN											1	0	3.41278e-10	0.00499	3.66874e-10	17	39				
DOCK10	55619	broad.mit.edu	37	2	225670030	225670030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:225670030C>G	uc010fwz.1	-	36	4183	c.3944G>C	c.(3943-3945)AGA>ACA	p.R1315T	DOCK10_uc002vob.2_Missense_Mutation_p.R1309T|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.R169T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1315							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGACAAGGGTCTTGGGATCTG	0.418		NaN											0	0	0	0.00874	0	40	52				
SPHKAP	80309	broad.mit.edu	37	2	228881535	228881535	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:228881535C>G	uc002vpq.2	-	7	4082	c.4035G>C	c.(4033-4035)GAG>GAC	p.E1345D	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1345D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1345D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1345						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGCACACTTCTCTGCTTGCG	0.512		NaN											0	0	0	0.007413	0	20	50				
GPR55	9290	broad.mit.edu	37	2	231775157	231775157	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:231775157T>A	uc002vrg.2	-	2	714	c.521A>T	c.(520-522)GAT>GTT	p.D174V	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.D174V	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	174	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCAGGTATCATCAGACATGTT	0.532		NaN											0	0	0	0.01441	0	49	58				
HJURP	55355	broad.mit.edu	37	2	234749700	234749700	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:234749700G>A	uc002vvg.2	-	8	1792	c.1726C>T	c.(1726-1728)CGT>TGT	p.R576C	HJURP_uc010znd.1_Missense_Mutation_p.R515C|HJURP_uc010zne.1_Missense_Mutation_p.R484C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	576					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCATCGTAACGATTCCTTCCG	0.413		NaN											0	0	0	0.010818	0	32	59				
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:238277457C>T	uc002vwl.2	-	10	4934	c.4649G>A	c.(4648-4650)GGA>GAA	p.G1550E	COL6A3_uc002vwo.2_Missense_Mutation_p.G1344E|COL6A3_uc010znj.1_Missense_Mutation_p.G943E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1550	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGATTTTCCACCCAGGAC	0.562		NaN											0	0	0	0.007291	0	30	86				
HDAC4	9759	broad.mit.edu	37	2	240036766	240036766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:240036766C>G	uc002vyk.3	-	13	2551	c.1759G>C	c.(1759-1761)GAG>CAG	p.E587Q	HDAC4_uc010fyz.1_Missense_Mutation_p.E582Q|HDAC4_uc010zoa.1_Missense_Mutation_p.E587Q|HDAC4_uc010fza.2_Missense_Mutation_p.E592Q|HDAC4_uc010fyy.2_Missense_Mutation_p.E544Q|HDAC4_uc010znz.1_Missense_Mutation_p.E470Q	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	587					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGAGCAGCTCCTGCTCACTG	0.677		NaN											0	0	0	0.01892	0	24	30				
PASK	23178	broad.mit.edu	37	2	242066101	242066101	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066101G>C	uc002wao.1	-	10	2321	c.2229C>G	c.(2227-2229)CTC>CTG	p.L743L	PASK_uc010zol.1_Silent_p.L557L|PASK_uc010zom.1_Silent_p.L708L|PASK_uc010fzl.1_Silent_p.L743L|PASK_uc010zon.1_Silent_p.L524L|PASK_uc002wap.2_Silent_p.L286L|PASK_uc002waq.2_Silent_p.L743L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	743					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGTTCCTTGAGGTTCCAGG	0.547		NaN											0	0	0	0.027356	0	27	41				
PASK	23178	broad.mit.edu	37	2	242066280	242066280	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242066280G>A	uc002wao.1	-	10	2142	c.2050C>T	c.(2050-2052)CCG>TCG	p.P684S	PASK_uc010zol.1_Missense_Mutation_p.P498S|PASK_uc010zom.1_Missense_Mutation_p.P649S|PASK_uc010fzl.1_Missense_Mutation_p.P684S|PASK_uc010zon.1_Missense_Mutation_p.P465S|PASK_uc002wap.2_Missense_Mutation_p.P227S|PASK_uc002waq.2_Missense_Mutation_p.P684S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	684					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACTCTGTCGGAACGAGTTCG	0.622		NaN											0	0	0	0.01441	0	64	82				
HDLBP	3069	broad.mit.edu	37	2	242192385	242192385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr2:242192385C>G	uc002waz.2	-	11	1587	c.1359G>C	c.(1357-1359)AAG>AAC	p.K453N	HDLBP_uc002wba.2_Missense_Mutation_p.K453N|HDLBP_uc002wbb.2_Missense_Mutation_p.K405N	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	453	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCACCGCTCTTCCCAATGA	0.582		NaN											0	0	0	0.020292	0	13	74				
RIN2	54453	broad.mit.edu	37	20	19941346	19941346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:19941346C>G	uc002wro.1	+	4	390	c.354C>G	c.(352-354)ATC>ATG	p.I118M	RIN2_uc010gcu.1_Missense_Mutation_p.I118M|RIN2_uc010gcv.1_Translation_Start_Site	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	118	SH2.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TCCACTAGATCTTCCTGGTTC	0.438		NaN											0	0	0	0.004672	0	3	7				
EMILIN3	90187	broad.mit.edu	37	20	39990777	39990777	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:39990777C>T	uc002xjy.1	-	4	1656	c.1432G>A	c.(1432-1434)GAG>AAG	p.E478K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	478	Potential.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				AGGCGCTCCTCGAGGCTCTGC	0.637		NaN											0	0	0	0.020292	0	14	62				
NCOA3	8202	broad.mit.edu	37	20	46265061	46265061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:46265061C>G	uc002xtk.2	+	12	2136	c.1931C>G	c.(1930-1932)TCA>TGA	p.S644*	NCOA3_uc010ght.1_Nonsense_Mutation_p.S654*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.S644*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.S644*|NCOA3_uc010zyc.1_Nonsense_Mutation_p.S439*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	644	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CCCCTAGATTCAAGTTGTAAA	0.463		NaN											0	0	0	0.023175	0	39	63				
CSE1L	1434	broad.mit.edu	37	20	47691370	47691370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:47691370G>C	uc002xty.2	+	11	1249	c.1115G>C	c.(1114-1116)AGA>ACA	p.R372T	CSE1L_uc010zyg.1_Missense_Mutation_p.R155T|CSE1L_uc010ghx.2_Missense_Mutation_p.R316T|CSE1L_uc010ghy.2_Missense_Mutation_p.R21T|CSE1L_uc010zyh.1_Missense_Mutation_p.R21T	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	372					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TACATAAGGAGAGATTTGGAA	0.388		NaN											0	0	0	0.00499	0	18	33				
LAMA5	3911	broad.mit.edu	37	20	60891982	60891982	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr20:60891982C>T	uc002ycq.2	-	56	7676	c.7609G>A	c.(7609-7611)GAT>AAT	p.D2537N		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2537	Potential.|Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGCAGCATCCTCGGCAGCC	0.697		NaN											0	0	0	0.009096	0	4	14				
MORC3	23515	broad.mit.edu	37	21	37710178	37710178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:37710178C>G	uc002yvi.2	+	4	470	c.394C>G	c.(394-396)CAG>GAG	p.Q132E		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	132					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						CCTTTTGTCTCAGACCTACTT	0.428		NaN											0	0	0	0.013114	0	41	87				
PIGP	51227	broad.mit.edu	37	21	38444858	38444858	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:38444858C>T	uc002yvw.1	-	1	246	c.30G>A	c.(28-30)CTG>CTA	p.L10L	TTC3_uc002yvz.2_5'Flank|TTC3_uc011aee.1_5'Flank|PIGP_uc002yvy.1_Intron|PIGP_uc002yvx.1_Intron|TTC3_uc011aed.1_5'Flank|TTC3_uc010gne.1_5'Flank	NM_153681	NP_710148	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	10					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity				0		Myeloproliferative disorder(46;0.0412)				GGAACACAATCAGCGCCAGCG	0.577		NaN											0	0	0	0.007835	0	34	133				
COL18A1	80781	broad.mit.edu	37	21	46925183	46925183	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr21:46925183C>T	uc011afs.1	+	35	4261	c.4240C>T	c.(4240-4242)CAC>TAC	p.H1414Y	COL18A1_uc002zhg.2_Missense_Mutation_p.H999Y|COL18A1_uc002zhi.2_Missense_Mutation_p.H1179Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1417	Nonhelical region 10 (NC10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCTGGCCCTCACAGGCAGAG	0.697		NaN											0	0	0	0.014758	0	5	12				
TXNRD2	10587	broad.mit.edu	37	22	19864662	19864662	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19864662C>A	uc011ahc.1	-	17	1574	c.1541G>T	c.(1540-1542)GGC>GTC	p.G514V	TXNRD2_uc002zql.1_Missense_Mutation_p.G268V|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G513V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G164V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	514					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					GGGGTCCAGGCCTGAGCGCTT	0.667		NaN											1	0	1.36491e-13	0.016723	1.49215e-13	12	6				
ARVCF	421	broad.mit.edu	37	22	19959927	19959927	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:19959927C>G	uc002zqz.2	-	17	2920	c.2649G>C	c.(2647-2649)GAG>GAC	p.E883D	ARVCF_uc002zqy.2_Missense_Mutation_p.E399D	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	883					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TGCCAGTTTTCTCGCCCTCTG	0.647		NaN											0	0	0	0.004482	0	8	31				
RTDR1	27156	broad.mit.edu	37	22	23482515	23482515	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:23482515C>T	uc002zwt.2	-	2	251	c.93G>A	c.(91-93)CTG>CTA	p.L31L	RTDR1_uc010gtv.1_Silent_p.L31L	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	31							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCTCCTCCTTCAGCTTGGGCA	0.562		NaN											0	0	0	0.00308	0	7	22				
TBC1D10A	83874	broad.mit.edu	37	22	30722669	30722669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:30722669C>T	uc011akt.1	-	1	226	c.202G>A	c.(202-204)GAG>AAG	p.E68K	TBC1D10A_uc010gvu.2_Missense_Mutation_p.E68K|TBC1D10A_uc003ahk.3_Missense_Mutation_p.E68K	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CACGCGCCCTCGGCGCCCTGC	0.716		NaN											0	0	0	0.014758	0	4	20				
CACNG2	10369	broad.mit.edu	37	22	36960929	36960929	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:36960929C>T	uc003aps.1	-	4	723	c.441G>A	c.(439-441)CTG>CTA	p.L147L		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	147	Helical; (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						TGATGTTACTCAGACCTGCGG	0.557		NaN											0	0	0	0.01441	0	71	99				
RPL3	6122	broad.mit.edu	37	22	39708981	39708981	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:39708981C>T	uc003axi.2	-	10	1244	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	RPL3_uc003axh.2_Silent_p.L343L|RPL3_uc003axj.2_Silent_p.L240L|RPL3_uc010gxx.2_Silent_p.L300L|RPL3_uc003axg.2_Silent_p.L340L	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	392					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					GGTCTTTCTTCAGTGGTCCCT	0.498		NaN											0	0	0	0.00308	0	8	27				
TNFRSF13C	115650	broad.mit.edu	37	22	42321519	42321519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:42321519C>T	uc003bbl.2	-	3	451	c.407G>A	c.(406-408)GGA>GAA	p.G136E	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.G137E	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	136	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ATCAGAGATTCCCGGAGACAG	0.637		NaN											0	0	0	0.021523	0	23	55				
A4GALT	53947	broad.mit.edu	37	22	43089310	43089310	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43089310G>A	uc003bdb.2	-	3	909	c.648C>T	c.(646-648)CTC>CTT	p.L216L	A4GALT_uc010gzd.2_Silent_p.L216L	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	216	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						ACGCGCCGTTGAGGACGTAGC	0.617		NaN											0	0	0	0.013537	0	11	32				
BIK	638	broad.mit.edu	37	22	43520163	43520163	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43520163C>T	uc003bdk.2	+	2	195	c.135C>T	c.(133-135)TTC>TTT	p.F45F		NM_001197	NP_001188	Q13323	BIK_HUMAN	BCL2-interacting killer	45					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane					0		Ovarian(80;0.0694)				TGGAGGACTTCGATTCTTTGG	0.567		NaN											0	0	0	0.017118	0	33	62				
EFCAB6	64800	broad.mit.edu	37	22	43972201	43972201	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:43972201C>T	uc003bdy.1	-	26	3611	c.3396G>A	c.(3394-3396)CAG>CAA	p.Q1132Q	EFCAB6_uc003bdz.1_Silent_p.Q980Q|EFCAB6_uc010gzi.1_Silent_p.Q980Q|EFCAB6_uc010gzj.1_Silent_p.Q358Q	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTAAAGTTCTGGAGAAAAT	0.313		NaN											0	0	0	0.016723	0	11	37				
GTSE1	51512	broad.mit.edu	37	22	46725395	46725395	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr22:46725395G>C	uc011aqy.1	+	11	2279	c.2067G>C	c.(2065-2067)CTG>CTC	p.L689L	GTSE1_uc011aqz.1_Silent_p.L536L|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	670					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCAGGCCTCTGATCGACCTCA	0.527		NaN											0	0	0	0.007835	0	43	80				
ZFYVE20	64145	broad.mit.edu	37	3	15124021	15124021	+	Silent	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:15124021G>T	uc003bzm.1	-	9	1307	c.693C>A	c.(691-693)ATC>ATA	p.I231I	ZFYVE20_uc010hek.1_Silent_p.I231I|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	231	FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TCATGCTGCTGATGCTGCCTC	0.602		NaN											1	0	2.21704e-12	0.016522	2.41688e-12	20	20				
OSBPL10	114884	broad.mit.edu	37	3	31710301	31710301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:31710301C>T	uc003cev.2	-	11	2310	c.1929G>A	c.(1927-1929)GTG>GTA	p.V643V	OSBPL10_uc003ceu.1_Silent_p.V400V|OSBPL10_uc011axf.1_Silent_p.V579V	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	643					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		GGTTGTGCTTCACTTCTGCGG	0.393		NaN											0	0	0	0.013114	0	44	36				
ZNF167	55888	broad.mit.edu	37	3	44612209	44612209	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:44612209G>C	uc010hin.2	+	6	1995	c.1607G>C	c.(1606-1608)AGA>ACA	p.R536T	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R536T|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	536	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGTTCCAATAGAAATCTCATT	0.438		NaN											0	0	0	0.025465	0	39	27				
PTH1R	5745	broad.mit.edu	37	3	46939420	46939420	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:46939420C>T	uc003cqm.2	+	6	592	c.389C>T	c.(388-390)CCC>CTC	p.P130L	PTH1R_uc003cqn.2_Missense_Mutation_p.P130L	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	130	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GTGGCTGTGCCCTGTCCGGAC	0.607		NaN							Ollier_disease_/_Maffuci_syndrome				0	0	0	0.007413	0	20	15				
P4HTM	54681	broad.mit.edu	37	3	49043565	49043565	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49043565C>G	uc003cvg.2	+	8	1582	c.1233C>G	c.(1231-1233)GTC>GTG	p.V411V	P4HTM_uc003cvh.2_Silent_p.V472V|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	411	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	ACCTGCGTGTCAAGCCCCAAC	0.612		NaN											0	0	0	0.009535	0	32	36				
LAMB2	3913	broad.mit.edu	37	3	49161498	49161498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:49161498G>A	uc003cwe.2	-	24	3759	c.3460C>T	c.(3460-3462)CAG>TAG	p.Q1154*		NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1154	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTGACACTGAGGTGTATCT	0.562		NaN											0	0	0	0.016723	0	13	11				
NISCH	11188	broad.mit.edu	37	3	52526262	52526262	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:52526262C>T	uc011beg.1	+	22	4351	c.4279C>T	c.(4279-4281)CCG>TCG	p.P1427S	NISCH_uc003ded.3_Missense_Mutation_p.P1427S|NISCH_uc003dee.3_Missense_Mutation_p.P916S|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.P176S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1427					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGACCTACCCGCAGGCCCT	0.652		NaN											0	0	0	0.01441	0	67	65				
SLMAP	7871	broad.mit.edu	37	3	57827095	57827095	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:57827095C>G	uc003dje.1	+	3	621	c.416C>G	c.(415-417)TCA>TGA	p.S139*	SLMAP_uc003djc.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djd.1_Nonsense_Mutation_p.S139*|SLMAP_uc003djf.1_Nonsense_Mutation_p.S139*	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	139	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CGGCTCCGCTCAGAGTGAGTA	0.358		NaN											0	0	0	0.00308	0	6	35				
ZDHHC23	254887	broad.mit.edu	37	3	113673211	113673211	+	Silent	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:113673211C>A	uc003eau.2	+	3	1125	c.826C>A	c.(826-828)CGG>AGG	p.R276R	ZDHHC23_uc003eav.2_Silent_p.R270R	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	276	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						ATGGCACTGCCGGATATGTGG	0.517		NaN											1	0	1.12685e-05	0.004482	1.17862e-05	9	22				
HCLS1	3059	broad.mit.edu	37	3	121354589	121354589	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:121354589T>C	uc003eeh.3	-	9	809	c.684A>G	c.(682-684)ATA>ATG	p.I228M	HCLS1_uc011bjj.1_Missense_Mutation_p.I191M|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	228					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		CACCGGCTTCTATGGGCGTCG	0.522		NaN											0	0	0	0.01441	0	46	49				
PARP9	83666	broad.mit.edu	37	3	122247537	122247537	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:122247537C>T	uc010hri.2	-	11	2384	c.2239G>A	c.(2239-2241)GAG>AAG	p.E747K	PARP9_uc003eff.3_Missense_Mutation_p.E712K|PARP9_uc011bjs.1_Missense_Mutation_p.E712K|PARP9_uc003efg.2_Missense_Mutation_p.E292K|PARP9_uc003efi.2_Missense_Mutation_p.E712K|PARP9_uc003efh.2_Missense_Mutation_p.E747K	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	747	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		TTGGCCTTCTCTGCCAGGTTT	0.373		NaN											0	0	0	0.010771	0	42	68				
HEG1	57493	broad.mit.edu	37	3	124738228	124738228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:124738228G>C	uc003ehs.3	-	5	1534	c.1466C>G	c.(1465-1467)TCA>TGA	p.S489*	HEG1_uc011bke.1_Nonsense_Mutation_p.S489*	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	489	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						AGTAGAGTCTGAGAACTGGGT	0.463		NaN											0	0	0	0.021022	0	39	164				
CCDC48	79825	broad.mit.edu	37	3	128753034	128753034	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128753034C>T	uc011bkt.1	+	5	1311	c.1311C>T	c.(1309-1311)CTC>CTT	p.L437L		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	437											0						CGGAGAAGCTCATGACTTACT	0.622		NaN											0	0	0	0.01892	0	23	56				
COPG	22820	broad.mit.edu	37	3	128982840	128982840	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:128982840G>C	uc003els.2	+	13	1322	c.1222G>C	c.(1222-1224)GAG>CAG	p.E408Q	COPG_uc010htb.2_Missense_Mutation_p.E314Q	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	408					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						GCTGCGGGAAGAGGTAAGAGT	0.547		NaN											0	0	0	0.008291	0	10	18				
C3orf37	56941	broad.mit.edu	37	3	129023617	129023617	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:129023617G>A	uc003elt.2	+	7	1102	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L	C3orf37_uc003elu.2_Silent_p.L296L|C3orf37_uc003elv.2_Silent_p.L338L|C3orf37_uc003elw.2_Silent_p.L338L	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	338										ovary(1)	1						AGCAATGGCTGAAGCGGGAGA	0.562		NaN											0	0	0	0.006122	0	19	18				
PPP2R3A	5523	broad.mit.edu	37	3	135721655	135721655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:135721655C>T	uc003eqv.1	+	2	1880	c.1315C>T	c.(1315-1317)CAT>TAT	p.H439Y	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	439					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TGGACCTAGTCATGAGTTATT	0.348		NaN											0	0	0	0.021022	0	36	63				
KIAA0226	9711	broad.mit.edu	37	3	197408132	197408132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:197408132C>T	uc003fyc.2	-	16	2481	c.2298G>A	c.(2296-2298)TGG>TGA	p.W766*	KIAA0226_uc003fyd.3_Nonsense_Mutation_p.W721*|KIAA0226_uc003fye.1_Nonsense_Mutation_p.W498*	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	766					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGAAGTCCCACTTGCGCA	0.537		NaN											0	0	0	0.021553	0	5	134				
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1806119G>A	uc003gdr.3	+	9	1394	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	380	Helical; (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(15)|p.G380E(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	156	222		Valid		
WHSC1	7468	broad.mit.edu	37	4	1957529	1957529	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:1957529G>A	uc003gdz.3	+	14	2804	c.2628G>A	c.(2626-2628)AAG>AAA	p.K876K	WHSC1_uc003geb.3_Silent_p.K876K|WHSC1_uc003gec.3_Silent_p.K876K|WHSC1_uc003ged.3_Silent_p.K876K|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.K95K|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Silent_p.K224K	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	876					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGCTGGGAAGAAGCTGCACT	0.507		NaN	T	IGH@	MM								0	0	0	0.028581	0	17	34				
ZBTB49	166793	broad.mit.edu	37	4	4317400	4317400	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:4317400A>T	uc003ghu.2	+	6	1589	c.1414A>T	c.(1414-1416)ATT>TTT	p.I472F	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Intron	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	472	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCACATTATTATTCACTCAGG	0.393		NaN											0	0	0	0.016522	0	21	29				
BST1	683	broad.mit.edu	37	4	15716979	15716979	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:15716979C>G	uc003goh.3	+	5	801	c.606C>G	c.(604-606)ATC>ATG	p.I202M	BST1_uc003goi.2_Missense_Mutation_p.I13M	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	202					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						CCTATCCCATCAAAGGGTAAG	0.388		NaN											0	0	0	0.010729	0	10	22				
STIM2	57620	broad.mit.edu	37	4	26959236	26959236	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:26959236C>T	uc003gsh.3	+	3	762	c.546C>T	c.(544-546)TTC>TTT	p.F182F	STIM2_uc003gsg.3_Silent_p.F182F|STIM2_uc010iex.2_Silent_p.F182F	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	95	EF-hand.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				TTCTATAGTTCATCAGAGAAG	0.308		NaN											0	0	0	0.00499	0	18	70				
GABRB1	2560	broad.mit.edu	37	4	47322172	47322172	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:47322172G>C	uc003gxh.2	+	5	864	c.490G>C	c.(490-492)GAT>CAT	p.D164H	GABRB1_uc011bze.1_Missense_Mutation_p.D94H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	164	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGTATGATGGATCTTCGAAG	0.423		NaN											0	0	0	0.028581	0	15	43				
C4orf14	84273	broad.mit.edu	37	4	57829697	57829697	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:57829697C>G	uc003hck.2	-	7	2091	c.2016G>C	c.(2014-2016)AAG>AAC	p.K672N		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	672							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CCACACTTTTCTTGATGCGCT	0.458		NaN											0	0	0	0.01441	0	68	121				
EPHA5	2044	broad.mit.edu	37	4	66230766	66230766	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:66230766G>A	uc003hcy.2	-	12	2398	c.2205C>T	c.(2203-2205)AAC>AAT	p.N735N	EPHA5_uc003hcx.2_Silent_p.N667N|EPHA5_uc003hcz.2_Silent_p.N713N|EPHA5_uc011cah.1_Silent_p.N736N|EPHA5_uc011cai.1_Silent_p.N714N|EPHA5_uc003hda.2_Silent_p.N736N	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	735	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						AATGGATGATGTTAGGATGAT	0.363		NaN								TSP Lung(17;0.13)			0	0	0	0.01441	0	49	69				
TMPRSS11F	389208	broad.mit.edu	37	4	68930646	68930646	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:68930646G>C	uc003hdt.1	-	8	821	c.772C>G	c.(772-774)CAA>GAA	p.Q258E	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	258	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						GCAATCCATTGAGTTGGGTCT	0.338		NaN											0	0	0	0.028581	0	17	28				
C4orf17	84103	broad.mit.edu	37	4	100463168	100463168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:100463168C>G	uc003huw.2	+	9	1305	c.982C>G	c.(982-984)CAG>GAG	p.Q328E	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	328											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GCCTAACACTCAGGAGAGTGG	0.433		NaN											0	0	0	0.020292	0	14	50				
SLC39A8	64116	broad.mit.edu	37	4	103228665	103228665	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:103228665C>A	uc003hwb.1	-	3	1009	c.480G>T	c.(478-480)AAG>AAT	p.K160N	SLC39A8_uc011ceo.1_Missense_Mutation_p.K160N|SLC39A8_uc003hwa.1_Missense_Mutation_p.K93N|SLC39A8_uc003hwc.2_Missense_Mutation_p.K160N	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	160	Extracellular (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGGTCAAAATCTTTGGGAAAT	0.388		NaN											1	0	2.05175e-36	0.01441	2.28169e-36	72	125				
KIAA1109	84162	broad.mit.edu	37	4	123192861	123192861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:123192861G>A	uc003ieh.2	+	45	8227	c.8182G>A	c.(8182-8184)GAA>AAA	p.E2728K	KIAA1109_uc003iel.1_Missense_Mutation_p.E663K|KIAA1109_uc003iek.2_Missense_Mutation_p.E1347K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2728					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAAGTCTTCAGAAACATTTGG	0.338		NaN											0	0	0	0.008291	0	11	36				
NR3C2	4306	broad.mit.edu	37	4	149357276	149357276	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:149357276G>C	uc003ilj.3	-	2	1071	c.737C>G	c.(736-738)TCC>TGC	p.S246C	NR3C2_uc003ilk.3_Missense_Mutation_p.S246C|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	246	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GTGCGACCTGGAGCCTCGATT	0.537		NaN											0	0	0	0.021523	0	24	45				
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	G	rs148186776		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:159092463C>G	uc003ipp.3	-	2	517	c.65G>C	c.(64-66)CGG>CCG	p.R22P	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22P|FAM198B_uc003ipr.3_Missense_Mutation_p.R22P|FAM198B_uc003ips.2_Missense_Mutation_p.R22P|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	22	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						CTTACGCACCCGCGGGACGCA	0.587		NaN											0	0	0	0.024245	0	14	54				
RAPGEF2	9693	broad.mit.edu	37	4	160273906	160273906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:160273906G>A	uc003iqg.3	+	21	3762	c.3452G>A	c.(3451-3453)CGA>CAA	p.R1151Q		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1151	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATTTCTTCACGATCCAGTATT	0.433		NaN											0	0	0	0.024334	0	24	50				
HELT	391723	broad.mit.edu	37	4	185941474	185941474	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:185941474G>C	uc011ckq.1	+	4	532	c.532G>C	c.(532-534)GAG>CAG	p.E178Q	HELT_uc011cko.1_Missense_Mutation_p.E93Q|HELT_uc003ixa.3_Missense_Mutation_p.E92Q|HELT_uc011ckp.1_Missense_Mutation_p.E36Q	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	178	Orange.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGCTACCACGAGTGCATGAA	0.577		NaN											0	0	0	0.027356	0	26	69				
TRIML2	205860	broad.mit.edu	37	4	189026057	189026057	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr4:189026057C>G	uc003izl.2	-	2	105	c.69G>C	c.(67-69)TCG>TCC	p.S23S	TRIML2_uc011cle.1_Silent_p.S73S|TRIML2_uc011clf.1_Silent_p.S73S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTTTCTCCCTCGATGTGTTCA	0.403		NaN											0	0	0	0.027356	0	27	88				
AMACR	23600	broad.mit.edu	37	5	34008107	34008107	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:34008107G>C	uc003jig.2	-	1	100	c.18C>G	c.(16-18)ATC>ATG	p.I6M	AMACR_uc003jih.2_Missense_Mutation_p.I6M|AMACR_uc003jii.2_Missense_Mutation_p.I6M|AMACR_uc003jij.2_Missense_Mutation_p.I6M|AMACR_uc003jil.1_Missense_Mutation_p.I6M|AMACR_uc003jik.1_Missense_Mutation_p.I6M	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	6					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						CCACGACCGAGATGCCCTGCA	0.672		NaN											0	0	0	0.021553	0	3	12				
WDR70	55100	broad.mit.edu	37	5	37605251	37605251	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:37605251C>T	uc003jkv.2	+	10	1061	c.1003C>T	c.(1003-1005)CCC>TCC	p.P335S	WDR70_uc010iva.1_Missense_Mutation_p.P335S	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	335	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGTCATTCCCACTACGTG	0.423		NaN											0	0	0	0.00308	0	8	77				
FBXO4	26272	broad.mit.edu	37	5	41929935	41929935	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:41929935G>A	uc003jmq.2	+	3	618	c.562G>A	c.(562-564)GAA>AAA	p.E188K	FBXO4_uc003jmp.2_Missense_Mutation_p.E188K|FBXO4_uc003jmr.2_Missense_Mutation_p.E188K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	188				E -> Q (in Ref. 1; AAF04468).	positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGGTTTGGAAGAATTGAATAC	0.418		NaN											0	0	0	0.01441	0	78	110				
HMGCS1	3157	broad.mit.edu	37	5	43295898	43295898	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:43295898C>T	uc003jnr.3	-	6	1068	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.Q287Q	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	287					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TATCTCTATTCTGGTCATTAA	0.358		NaN											0	0	0	0.01441	0	59	72				
ANKRD34B	340120	broad.mit.edu	37	5	79855427	79855427	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:79855427G>A	uc010jam.2	-	4	762	c.412C>T	c.(412-414)CTT>TTT	p.L138F	ANKRD34B_uc003kgw.2_Missense_Mutation_p.L138F|ANKRD34B_uc010jan.2_Missense_Mutation_p.L138F	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	138	ANK 4.					cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CAAGCACTAAGAAGAACTTTC	0.428		NaN											0	0	0	0.024245	0	16	174				
FAM174A	345757	broad.mit.edu	37	5	99897787	99897787	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:99897787G>C	uc003knj.1	+	2	584	c.464G>C	c.(463-465)AGA>ACA	p.R155T		NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	155	Cytoplasmic (Potential).					integral to membrane					0						AAGACTAGGAGATATGGAGTT	0.269		NaN											0	0	0	0.010729	0	12	33				
PRR16	51334	broad.mit.edu	37	5	120021694	120021694	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:120021694G>A	uc003ksq.2	+	2	368	c.205G>A	c.(205-207)GAT>AAT	p.D69N	PRR16_uc003ksp.2_Missense_Mutation_p.D46N|PRR16_uc003ksr.2_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	69	Potential.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACAGCTGGAGGATGAGATGAC	0.473		NaN											0	0	0	0.006214	0	10	46				
SLC22A4	6583	broad.mit.edu	37	5	131679478	131679478	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:131679478G>C	uc003kwq.2	+	10	1771	c.1606G>C	c.(1606-1608)GAC>CAC	p.D536H	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	536	Cytoplasmic (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAAAACAAGAGACTCAATGGA	0.338		NaN											0	0	0	0.006214	0	9	41				
BRD8	10902	broad.mit.edu	37	5	137506551	137506551	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:137506551C>G	uc003lcf.1	-	6	465	c.410G>C	c.(409-411)AGA>ACA	p.R137T	BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R137T|BRD8_uc003lci.2_Missense_Mutation_p.R137T|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Missense_Mutation_p.R121T|BRD8_uc010jer.1_Missense_Mutation_p.R106T|BRD8_uc011cyn.1_Missense_Mutation_p.R96T|BRD8_uc010jes.1_Missense_Mutation_p.R4T	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	137	Potential.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCATCCAGTCTGCTGTCCAT	0.403		NaN											0	0	0	0.01441	0	55	22				
PCDHB2	56133	broad.mit.edu	37	5	140476448	140476448	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140476448C>T	uc003lil.2	+	1	2212	c.2074C>T	c.(2074-2076)CTG>TTG	p.L692L	PCDHB2_uc003lim.1_Silent_p.L353L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	692	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCTACCTGGTGGTGGC	0.697		NaN											0	0	0	0.024334	0	10	181				
PCDHB3	56132	broad.mit.edu	37	5	140482301	140482301	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140482301C>T	uc003lio.2	+	1	2068	c.2068C>T	c.(2068-2070)CTG>TTG	p.L690L	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	690	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCTACCTGGTGGTGGC	0.682		NaN											0	0	0	0.007413	0	7	132				
PCDHB9	56127	broad.mit.edu	37	5	140567183	140567183	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140567183C>T	uc003liw.1	+	1	291	c.291C>T	c.(289-291)GGC>GGT	p.G97G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	97	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGTGTGGCCCTAAAGAGC	0.458		NaN											0	0	0	0.015359	0	27	28				
PCDHGA4	56111	broad.mit.edu	37	5	140736303	140736303	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140736303G>A	uc003ljq.1	+	1	1536	c.1536G>A	c.(1534-1536)GGG>GGA	p.G512G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.G512G	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	512	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACAGGGATCCTATATG	0.527		NaN											0	0	0	0.013726	0	33	117				
PCDHGC3	5098	broad.mit.edu	37	5	140856170	140856170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:140856170G>A	uc003lkv.1	+	1	602	c.487G>A	c.(487-489)GAT>AAT	p.D163N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D163N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	163	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGATCCCGATGTGGGAAG	0.567		NaN											0	0	0	0.008871	0	18	55				
SPINK9	643394	broad.mit.edu	37	5	147715197	147715197	+	Silent	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:147715197C>G	uc003lpe.1	+	1	76	c.21C>G	c.(19-21)GTC>GTG	p.V7V	uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	7						extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCATAGTCCTACTCTTGG	0.483		NaN											0	0	0	0.014323	0	22	47				
CSF1R	1436	broad.mit.edu	37	5	149437110	149437110	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:149437110C>T	uc003lrl.2	-	15	2373	c.2178G>A	c.(2176-2178)ATG>ATA	p.M726I	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.M726I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	726	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGACAGGCCTCATCTCCACAT	0.552		NaN											0	0	0	0.001984	0	7	22				
NSD1	64324	broad.mit.edu	37	5	176721219	176721219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:176721219G>C	uc003mfr.3	+	23	6988	c.6850G>C	c.(6850-6852)GAG>CAG	p.E2284Q	NSD1_uc003mft.3_Missense_Mutation_p.E2015Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1932Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2284	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGACCTCTTGAGAGAACTGA	0.537		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.01441	0	42	111		Valid		
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr5:178410024C>T	uc003mjr.2	-	9	2502	c.2323G>A	c.(2323-2325)GTG>ATG	p.V775M	GRM6_uc003mjq.2_Missense_Mutation_p.V178M	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	775	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597		NaN											0	0	0	0.00499	0	17	47				
HIVEP1	3096	broad.mit.edu	37	6	12164682	12164682	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:12164682G>A	uc003nac.2	+	9	8324	c.8145G>A	c.(8143-8145)GTG>GTA	p.V2715V	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGCTTGTGATAGCAACCT	0.448		NaN											0	0	0	0.008291	0	10	31				
HIST1H2BL	8340	broad.mit.edu	37	6	27775562	27775562	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:27775562G>C	uc003njl.2	-	1	148	c.123C>G	c.(121-123)TAC>TAG	p.Y41*	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	41					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCTTGTACACGTACACGGAGT	0.587		NaN											0	0	0	0.01441	0	61	130				
ZKSCAN3	80317	broad.mit.edu	37	6	28327555	28327555	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:28327555G>A	uc003nle.3	+	2	408	c.192G>A	c.(190-192)CTG>CTA	p.L64L	ZKSCAN3_uc010jrc.2_Silent_p.L64L|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	64	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GCGAGGCGCTGAGTCGGCTCC	0.657		NaN											0	0	0	0.008361	0	30	67				
ZFP57	346171	broad.mit.edu	37	6	29641454	29641454	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:29641454C>A	uc011dlw.1	-	4	585	c.434G>T	c.(433-435)TGC>TTC	p.C145F	ZFP57_uc003nnl.3_Missense_Mutation_p.C125F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GGCCCCTCTGCATGCAAGGAA	0.552		NaN											1	0	1.56793e-16	0.01441	1.72874e-16	47	80				
CDKN1A	1026	broad.mit.edu	37	6	36652060	36652060	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:36652060G>T	uc003omm.3	+	2	304	c.182G>T	c.(181-183)GGT>GTT	p.G61V	CDKN1A_uc011dtq.1_Missense_Mutation_p.G95V|CDKN1A_uc003oml.2_Missense_Mutation_p.G61V|CDKN1A_uc003omn.2_Missense_Mutation_p.G61V	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	61					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CCACTGGAGGGTGACTTCGCC	0.672		NaN							Multiple_Endocrine_Neoplasia_type_1				1	0	2.61681e-11	0.020292	2.82879e-11	14	29		Valid		
CUL9	23113	broad.mit.edu	37	6	43155601	43155601	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43155601G>A	uc003ouk.2	+	7	1807	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	CUL9_uc003ouj.1_Missense_Mutation_p.E468K|CUL9_uc003oul.2_Missense_Mutation_p.E578K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.E36K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	578					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCTGTCTAATGAACCAAGCAG	0.522		NaN											0	0	0	0.010504	0	20	41				
C6orf108	10591	broad.mit.edu	37	6	43194090	43194090	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43194090G>A	uc003ouo.2	-	2	257	c.240C>T	c.(238-240)GAC>GAT	p.D80D	C6orf108_uc003oup.2_Silent_p.D80D	NM_006443	NP_006434	O43598	RCL_HUMAN	putative c-Myc-responsive isoform 1	80					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			GCCACTCCAGGTCCTGCTCAT	0.617		NaN											0	0	0	0.00308	0	7	31				
TJAP1	93643	broad.mit.edu	37	6	43472671	43472671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:43472671G>A	uc003ovd.2	+	11	1128	c.752G>A	c.(751-753)AGC>AAC	p.S251N	TJAP1_uc003ovf.2_Missense_Mutation_p.S241N|TJAP1_uc003ove.2_Missense_Mutation_p.S241N|TJAP1_uc003ovc.2_Missense_Mutation_p.S241N|TJAP1_uc010jyp.2_Missense_Mutation_p.S210N|TJAP1_uc011dvh.1_Missense_Mutation_p.S241N|TJAP1_uc003ovg.2_Missense_Mutation_p.S117N|TJAP1_uc011dvi.1_Missense_Mutation_p.S251N|TJAP1_uc011dvj.1_Missense_Mutation_p.S51N|TJAP1_uc003ovi.2_Missense_Mutation_p.S117N	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	251						Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTCAGGCAGCGCCGGGCGC	0.642		NaN											0	0	0	0.01441	0	54	86				
IMPG1	3617	broad.mit.edu	37	6	76720899	76720899	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:76720899G>T	uc003pik.1	-	8	980	c.850C>A	c.(850-852)CAT>AAT	p.H284N		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	284	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTAACACATGGATTTTTTTG	0.313		NaN											1	0	1.58986e-06	0.008291	1.68109e-06	11	21				
GABRR2	2570	broad.mit.edu	37	6	89974215	89974215	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:89974215G>A	uc003pnb.2	-	8	1085	c.1077C>T	c.(1075-1077)TTC>TTT	p.F359F	GABRR2_uc011dzx.1_Silent_p.F235F	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	359	Helical; (Potential).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGAGGAACACGAACACAAAGC	0.592		NaN											0	0	0	0.012319	0	23	29				
BVES	11149	broad.mit.edu	37	6	105581450	105581450	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:105581450C>A	uc003pqw.2	-	2	160	c.3G>T	c.(1-3)ATG>ATT	p.M1I	BVES_uc003pqx.2_Missense_Mutation_p.M1I|BVES_uc003pqy.2_Missense_Mutation_p.M1I	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	1	Extracellular (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGTATAATTCATTTTGAAAA	0.323		NaN											1	0	1.06801e-11	0.009535	1.16101e-11	32	55				
THEMIS	387357	broad.mit.edu	37	6	128040891	128040891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:128040891C>G	uc003qbi.2	-	6	2155	c.1836G>C	c.(1834-1836)CAG>CAC	p.Q612H	THEMIS_uc010kfa.2_Missense_Mutation_p.Q515H|THEMIS_uc011ebt.1_Missense_Mutation_p.Q651H|THEMIS_uc010kfb.2_Missense_Mutation_p.Q577H	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	612					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						CCAAATCATTCTGACTACCAA	0.443		NaN											0	0	0	0.027894	0	42	27				
STXBP5	134957	broad.mit.edu	37	6	147648368	147648368	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:147648368G>A	uc003qlz.2	+	18	2197	c.2036G>A	c.(2035-2037)CGG>CAG	p.R679Q	STXBP5_uc010khz.1_Missense_Mutation_p.R679Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R350Q|STXBP5_uc003qma.2_Missense_Mutation_p.R26Q	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	679	WD 10.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GATCCTTATCGGAGAGAACCC	0.418		NaN											0	0	0	0.007291	0	28	57				
ULBP3	79465	broad.mit.edu	37	6	150387242	150387242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:150387242G>A	uc003qns.3	-	2	145	c.145C>T	c.(145-147)CAG>TAG	p.Q49*	ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Intron	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3 precursor	49	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCACACCACTGTTGCCCATGT	0.473		NaN											0	0	0	0.019004	0	34	63				
C6orf97	80129	broad.mit.edu	37	6	151914325	151914325	+	Missense_Mutation	SNP	C	C	A	rs113968720		TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:151914325C>A	uc003qol.2	+	8	1466	c.1377C>A	c.(1375-1377)GAC>GAA	p.D459E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	459											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TGCGGCTGGACGTGGTTTTAG	0.453		NaN											1	0	8.53417e-09	0.013726	9.12355e-09	33	32				
TFB1M	51106	broad.mit.edu	37	6	155579176	155579176	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr6:155579176T>C	uc003qqj.3	-	7	899	c.835A>G	c.(835-837)AGG>GGG	p.R279G	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCTAACAGCCTGCCCGTGCTT	0.453		NaN											0	0	0	0.007291	0	29	94				
NUPL2	11097	broad.mit.edu	37	7	23236339	23236339	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:23236339G>A	uc003svu.2	+	5	822	c.563G>A	c.(562-564)AGG>AAG	p.R188K	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.R65K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.R65K|NUPL2_uc011jyx.1_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	188					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						TGGAGGAACAGGGTAAATGAA	0.328		NaN											0	0	0	0.024334	0	25	40				
OGDH	4967	broad.mit.edu	37	7	44739835	44739835	+	Silent	SNP	A	A	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:44739835A>G	uc003tln.2	+	19	2635	c.2526A>G	c.(2524-2526)CTA>CTG	p.L842L	OGDH_uc011kbx.1_Silent_p.L838L|OGDH_uc011kby.1_Silent_p.L692L|OGDH_uc003tlp.2_Silent_p.L853L|OGDH_uc011kbz.1_Silent_p.L637L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	842					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCCACGTGCTACGACGCCAGA	0.567		NaN											0	0	0	0.012213	0	33	39				
ABCA13	154664	broad.mit.edu	37	7	48314904	48314904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48314904G>C	uc003toq.2	+	17	5666	c.5641G>C	c.(5641-5643)GAA>CAA	p.E1881Q	ABCA13_uc010kyr.2_Missense_Mutation_p.E1384Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1881					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CTCCCGAATGGAAATAACTAG	0.403		NaN											0	0	0	0.017118	0	38	58				
ABCA13	154664	broad.mit.edu	37	7	48315084	48315084	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:48315084G>C	uc003toq.2	+	17	5846	c.5821G>C	c.(5821-5823)GAA>CAA	p.E1941Q	ABCA13_uc010kyr.2_Missense_Mutation_p.E1444Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1941					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAGCATCTCTGAACTCTGTCC	0.338		NaN											0	0	0	0.01441	0	47	88				
AKAP9	10142	broad.mit.edu	37	7	91630326	91630326	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:91630326G>C	uc003ulg.2	+	8	1320	c.1095G>C	c.(1093-1095)CAG>CAC	p.Q365H	AKAP9_uc003ule.2_Missense_Mutation_p.Q377H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q365H|AKAP9_uc003uli.2_5'UTR	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	377	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			tacaagaacagattgtgcaaa	0.02		NaN	T	BRAF	papillary thyroid								0	0	0	0.004672	0	3	14				
TSC22D4	81628	broad.mit.edu	37	7	100075057	100075057	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100075057T>A	uc003uva.2	-	2	1360	c.605A>T	c.(604-606)GAG>GTG	p.E202V	TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.E202V|TSC22D4_uc003uvc.3_Missense_Mutation_p.E202V	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	202					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCGCACTCTCACCGGTCTC	0.711		NaN											0	0	0	0.008291	0	11	13				
SLC12A9	56996	broad.mit.edu	37	7	100458882	100458882	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:100458882C>G	uc003uwp.2	+	10	1483	c.1341C>G	c.(1339-1341)TTC>TTG	p.F447L	SLC12A9_uc003uwq.2_Missense_Mutation_p.F358L|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.F183L|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.F183L|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	447	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCAACTTCCGGTGAGAGA	0.642		NaN											0	0	0	0.023175	0	35	110				
SPDYE6	729597	broad.mit.edu	37	7	101989042	101989042	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:101989042G>T	uc011kkp.1	-	6	1252	c.831C>A	c.(829-831)AAC>AAA	p.N277K	SPDYE6_uc003uzb.2_Missense_Mutation_p.N133K	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	speedy homolog E6	277	Arg-rich.										0						TGCGAGAGCGGTTCTTCCTAT	0.537		NaN											1	0	2.00703e-41	0.01441	2.23838e-41	51	447				
DOCK4	9732	broad.mit.edu	37	7	111422961	111422961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:111422961C>T	uc003vfx.2	-	34	3786	c.3517G>A	c.(3517-3519)GAG>AAG	p.E1173K	DOCK4_uc011kml.1_Missense_Mutation_p.E54K|DOCK4_uc011kmm.1_Missense_Mutation_p.E80K|DOCK4_uc003vfw.2_Missense_Mutation_p.E623K|DOCK4_uc003vfy.2_Missense_Mutation_p.E1218K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1173	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCATCTACCTCTCCCATTTTC	0.383		NaN											0	0	0	0.014323	0	24	73				
TFEC	22797	broad.mit.edu	37	7	115580778	115580778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:115580778C>G	uc003vhj.1	-	8	1055	c.871G>C	c.(871-873)GAT>CAT	p.D291H	TFEC_uc003vhk.1_Missense_Mutation_p.D262H|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	291	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			AATGATAAATCTGTGAAGTAT	0.433		NaN											0	0	0	0.01441	0	55	106				
POT1	25913	broad.mit.edu	37	7	124475365	124475365	+	Silent	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:124475365T>A	uc003vlm.2	-	15	2074	c.1473A>T	c.(1471-1473)CCA>CCT	p.P491P	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.P360P|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	491					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						GTATAAGAAATGGTGCTGAAA	0.269		NaN											0	0	0	0.013114	0	47	87				
TAS2R39	259285	broad.mit.edu	37	7	142880972	142880972	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:142880972T>C	uc011ksw.1	+	1	461	c.461T>C	c.(460-462)ATT>ACT	p.I154T		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	154	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					AGGTGGAGAATTACTGGATTG	0.433		NaN											0	0	0	0.019004	0	34	60				
ZNF786	136051	broad.mit.edu	37	7	148769089	148769089	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:148769089G>A	uc003wfh.2	-	4	912	c.775C>T	c.(775-777)CTG>TTG	p.L259L	ZNF786_uc011kuk.1_Silent_p.L222L|ZNF786_uc003wfi.2_Silent_p.L173L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	259	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCCGCCAGATGGCGCAGC	0.677		NaN											0	0	0	0.006214	0	10	19				
SSPO	23145	broad.mit.edu	37	7	149508033	149508033	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149508033C>T	uc010lpk.2	+	67	9427	c.9427C>T	c.(9427-9429)CCC>TCC	p.P3143S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3143					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACTGCCCCTGTGCCCA	0.617		NaN											0	0	0	0.016723	0	13	24				
SSPO	23145	broad.mit.edu	37	7	149509070	149509070	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:149509070C>T	uc010lpk.2	+	69	9616	c.9616C>T	c.(9616-9618)CGG>TGG	p.R3206W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3206	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGTGCCATCGGCACCGGTT	0.697		NaN											0	0	0	0.014323	0	23	28				
MLL3	58508	broad.mit.edu	37	7	152027735	152027735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:152027735C>T	uc003wla.2	-	3	559	c.340G>A	c.(340-342)GAG>AAG	p.E114K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	114					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCGATTCCTCAGACACAGAT	0.433		NaN	N		medulloblastoma								0	0	0	0.006122	0	17	84		Valid		
DPP6	1804	broad.mit.edu	37	7	154561137	154561137	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr7:154561137G>A	uc003wlk.2	+	9	1023	c.894G>A	c.(892-894)TTG>TTA	p.L298L	DPP6_uc003wli.2_Silent_p.L234L|DPP6_uc003wlm.2_Silent_p.L236L|DPP6_uc011kvq.1_Silent_p.L191L	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	298	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGAGATTTTGAAGACACACA	0.507		NaN											0	0	0	0.021523	0	25	45				
SPAG11B	10407	broad.mit.edu	37	8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:7308697C>T	uc003wrk.2	-	3	406	c.239G>A	c.(238-240)CGA>CAA	p.R80Q	SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Missense_Mutation_p.R27Q|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron	NM_016512	NP_057596	Q08648	SG11B_HUMAN	sperm associated antigen 11B isoform A	80					spermatogenesis	extracellular region					0				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468		NaN											0	0	0	0.00499	0	17	29				
INTS10	55174	broad.mit.edu	37	8	19690831	19690831	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:19690831G>C	uc003wzj.2	+	12	1660	c.1529G>C	c.(1528-1530)AGA>ACA	p.R510T		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	510					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGGGAGTACAGAGTGAGTACT	0.577		NaN											0	0	0	0.001984	0	7	21				
ADAM28	10863	broad.mit.edu	37	8	24178763	24178763	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:24178763C>T	uc003xdy.2	+	8	764	c.681C>T	c.(679-681)ATC>ATT	p.I227I	ADAM28_uc003xdx.2_Silent_p.I227I|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	227	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGATCAGAAAGAGGG	0.318		NaN											0	0	0	0.028581	0	14	67				
EPHX2	2053	broad.mit.edu	37	8	27398124	27398124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:27398124G>A	uc003xfu.2	+	15	1411	c.1330G>A	c.(1330-1332)GAG>AAG	p.E444K	EPHX2_uc010luu.2_Missense_Mutation_p.E412K|EPHX2_uc010luv.2_Missense_Mutation_p.E378K|EPHX2_uc003xfv.2_Missense_Mutation_p.E391K|EPHX2_uc010luw.2_Missense_Mutation_p.E378K	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	444	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GATGGTCACTGAGGAGGAAAT	0.502		NaN											0	0	0	0.01892	0	24	34				
MAK16	84549	broad.mit.edu	37	8	33346598	33346598	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:33346598G>A	uc003xjj.2	+	5	373	c.333G>A	c.(331-333)CAG>CAA	p.Q111Q	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	111						nucleolus				ovary(1)	1						AATGTAAGCAGAGATTCACCA	0.353		NaN											0	0	0	0.023175	0	40	60				
RAB11FIP1	80223	broad.mit.edu	37	8	37729146	37729146	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:37729146C>G	uc003xkm.1	-	4	3218	c.3174G>C	c.(3172-3174)AAG>AAC	p.K1058N	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xko.1_Missense_Mutation_p.K387N|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	1058					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCTTGAGCTCTTGCCAAGAT	0.557		NaN											0	0	0	0.01441	0	56	98				
FGFR1	2260	broad.mit.edu	37	8	38271717	38271717	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:38271717C>T	uc003xlp.2	-	17	3081	c.2139G>A	c.(2137-2139)CTG>CTA	p.L713L	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.L711L|FGFR1_uc011lbp.1_Silent_p.L624L|FGFR1_uc011lbq.1_Silent_p.L622L|FGFR1_uc010lwk.2_Silent_p.L703L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	713	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GACCCTCCTTCAGCAGCTTGA	0.607		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	0.010504	0	22	28				
PREX2	80243	broad.mit.edu	37	8	69046488	69046488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:69046488C>T	uc003xxv.1	+	32	3988	c.3961C>T	c.(3961-3963)CAG>TAG	p.Q1321*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTTTCACTTTCAGTCACTTCT	0.438		NaN											0	0	0	0.012319	0	17	25				
ZFHX4	79776	broad.mit.edu	37	8	77767490	77767490	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:77767490C>T	uc003yav.2	+	10	8585	c.8198C>T	c.(8197-8199)TCT>TTT	p.S2733F	ZFHX4_uc003yau.1_Missense_Mutation_p.S2778F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2733F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2733						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGAGTGTTCTGAGGATGTA	0.403		NaN								HNSCC(33;0.089)			0	0	0	0.020292	0	13	18				
FBXO43	286151	broad.mit.edu	37	8	101153669	101153669	+	Silent	SNP	T	T	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:101153669T>C	uc003yjd.2	-	2	1526	c.813A>G	c.(811-813)TTA>TTG	p.L271L	FBXO43_uc003yje.2_Silent_p.L237L|FBXO43_uc010mbp.1_Silent_p.L271L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	271					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CATTAATGCATAAACTGCTAT	0.383		NaN											0	0	0	0.006122	0	19	38				
EIF3E	3646	broad.mit.edu	37	8	109228656	109228656	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:109228656C>T	uc003ymu.2	-	9	964	c.936G>A	c.(934-936)CTG>CTA	p.L312L	EIF3E_uc003ymt.2_Silent_p.L263L|EIF3E_uc003ymv.2_Silent_p.L219L|EIF3E_uc010mci.1_Silent_p.L312L	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	312	PCI.			L->D: Promotes nuclear accumulation.	negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CACATTCCCTCAGCTTTTTCT	0.289		NaN											0	0	0	0.006214	0	9	47				
EXT1	2131	broad.mit.edu	37	8	118816983	118816983	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:118816983T>A	uc003yok.1	-	10	2806	c.2033A>T	c.(2032-2034)TAT>TTT	p.Y678F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	678	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGTCTCCTTATACTGCTTCTT	0.478		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	0.008361	0	31	58				
TIGD5	84948	broad.mit.edu	37	8	144681868	144681868	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr8:144681868C>G	uc003yyx.1	+	1	1648	c.1648C>G	c.(1648-1650)CTG>GTG	p.L550V	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	599					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGAAACAGCTCTGCGGTGGCT	0.687		NaN											0	0	0	0.00308	0	7	11				
JAK2	3717	broad.mit.edu	37	9	5089767	5089767	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:5089767G>A	uc010mhm.2	+	19	2778	c.2665G>A	c.(2665-2667)GAA>AAA	p.E889K	JAK2_uc003ziw.2_Missense_Mutation_p.E889K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	889	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCATAGTACTGAAGAGCACCT	0.448		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				0	0	0	0.014323	0	21	12				
TRPM3	80036	broad.mit.edu	37	9	73233873	73233873	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:73233873G>A	uc004aid.2	-	16	2476	c.2232C>T	c.(2230-2232)CAC>CAT	p.H744H	TRPM3_uc004ahu.2_Silent_p.H574H|TRPM3_uc004ahv.2_Silent_p.H546H|TRPM3_uc004ahw.2_Silent_p.H616H|TRPM3_uc004ahx.2_Silent_p.H603H|TRPM3_uc004ahy.2_Silent_p.H606H|TRPM3_uc004ahz.2_Silent_p.H593H|TRPM3_uc004aia.2_Silent_p.H591H|TRPM3_uc004aib.2_Silent_p.H581H|TRPM3_uc004aic.2_Silent_p.H744H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	769	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGAAGTCGCGGTGTTTGGCAG	0.612		NaN											0	0	0	0.006122	0	18	13				
ECM2	1842	broad.mit.edu	37	9	95274343	95274343	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:95274343G>A	uc004ash.2	-	5	1185	c.1120C>T	c.(1120-1122)CTG>TTG	p.L374L	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.L352L|ECM2_uc011lty.1_Silent_p.L374L|ECM2_uc004asg.2_Silent_p.L352L	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	374	LRR 1.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						TTTTTACTCAGATCAAGCCTT	0.393		NaN											0	0	0	0.025465	0	35	15				
CTNNAL1	8727	broad.mit.edu	37	9	111741687	111741687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:111741687G>C	uc004bdo.1	-	7	1017	c.975C>G	c.(973-975)ATC>ATG	p.I325M	CTNNAL1_uc010mts.1_Missense_Mutation_p.I61M|CTNNAL1_uc010mtt.1_Missense_Mutation_p.I325M|CTNNAL1_uc004bdp.1_Missense_Mutation_p.I325M	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	325					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TACGCTCCAAGATGACTTCCA	0.443		NaN											0	0	0	0.027356	0	25	20				
ENTPD2	954	broad.mit.edu	37	9	139945381	139945381	+	Silent	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945381G>C	uc004ckw.1	-	5	803	c.747C>G	c.(745-747)CTC>CTG	p.L249L	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L249L	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	249	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCCTCTGGAGGACCTGGT	0.647		NaN											0	0	0	0.00308	0	8	14				
ENTPD2	954	broad.mit.edu	37	9	139945964	139945964	+	Silent	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:139945964G>A	uc004ckw.1	-	3	440	c.384C>T	c.(382-384)CTC>CTT	p.L128L	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.L128L	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	128	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACACTCACTTGAGCAGGCGCA	0.637		NaN											0	0	0	0.020292	0	13	25				
GRIN1	2902	broad.mit.edu	37	9	140058079	140058079	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:140058079G>C	uc004clk.2	+	17	2732	c.2402G>C	c.(2401-2403)CGC>CCC	p.R801P	GRIN1_uc004cli.1_Missense_Mutation_p.R476P|GRIN1_uc004clj.1_Missense_Mutation_p.R798P|GRIN1_uc004cll.2_Missense_Mutation_p.R801P|GRIN1_uc004clm.2_Missense_Mutation_p.R801P|GRIN1_uc004cln.2_Missense_Mutation_p.R819P|GRIN1_uc004clo.2_Missense_Mutation_p.R819P	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	801	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGTGACTCGCGCAGCAACGCC	0.587		NaN											0	0	0	0.024245	0	14	8				
ARSF	416	broad.mit.edu	37	X	3002367	3002367	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:3002367G>A	uc004cre.1	+	6	711	c.490G>A	c.(490-492)GGC>AGC	p.G164S	ARSF_uc004crf.1_Missense_Mutation_p.G164S	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	164						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTACTACTATGGCATGCCGTT	0.512		NaN											0	0	0	0.017118	0	37	8				
CLCN4	1183	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:10176604G>T	uc004csy.3	+	9	1793	c.1363G>T	c.(1363-1365)GTT>TTT	p.V455F	CLCN4_uc011mid.1_Missense_Mutation_p.V361F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	455	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAAAATCGTCGTTACCATATT	0.527		NaN											1	0	2.09306e-48	0.01441	2.34109e-48	70	18				
RBMX2	51634	broad.mit.edu	37	X	129537824	129537824	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:129537824C>T	uc004evt.2	+	3	234	c.170C>T	c.(169-171)TCA>TTA	p.S57L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	57	RRM.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						TGTGTGTTCTCACAGTAAGTG	0.343		NaN											0	0	0	0.01441	0	88	120				
USP26	83844	broad.mit.edu	37	X	132161712	132161712	+	Silent	SNP	C	C	T			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:132161712C>T	uc010nrm.1	-	6	1007	c.537G>A	c.(535-537)AAG>AAA	p.K179K	USP26_uc011mvf.1_Silent_p.K179K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	179					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTTCCTCTTCTTGTGCT	0.393		NaN											0	0	0	0.014323	0	21	42				
GDI1	2664	broad.mit.edu	37	X	153665607	153665607	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:153665607G>A	uc004fli.3	+	1	349	c.7G>A	c.(7-9)GAG>AAG	p.E3K	GDI1_uc011mzo.1_Missense_Mutation_p.E3K	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	3					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCATGGACGAGGAATACGA	0.552		NaN											0	0	0	0.004672	0	3	1				
UBE2J2	118424	broad.mit.edu	37	1	1203256	1203256	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:1203256C>T	uc001adn.2	-	2	427	c.117G>A	c.(115-117)TCG>TCA	p.S39S	UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Silent_p.S39S|UBE2J2_uc001adp.2_Silent_p.S39S|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	39	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAGAATATTCGAAGGGAGGG	0.637		NaN											0	0	0	0.020292	0	15	205				
LRRC47	57470	broad.mit.edu	37	1	3703763	3703763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:3703763C>A	uc001akx.1	-	2	755	c.727G>T	c.(727-729)GAG>TAG	p.E243*		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	243	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACCATCTTCTCCAGGCGCTTG	0.622		NaN											1	0	6.94344e-10	0.006122	7.72835e-10	16	47				
ATP13A2	23400	broad.mit.edu	37	1	17316492	17316492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:17316492C>G	uc001baa.2	-	22	2609	c.2419G>C	c.(2419-2421)GAC>CAC	p.D807H	ATP13A2_uc001azz.1_5'UTR|ATP13A2_uc001bab.2_Missense_Mutation_p.D802H|ATP13A2_uc001bac.2_Intron	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	807	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCAGCCTGGTCAGGATCCTGG	0.647		NaN											0	0	0	0.001984	0	7	17				
LRRC41	10489	broad.mit.edu	37	1	46763283	46763283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:46763283C>T	uc001cpn.2	-	3	353	c.309G>A	c.(307-309)TGG>TGA	p.W103*	LRRC41_uc010omb.1_Nonsense_Mutation_p.W103*|LRRC41_uc001cpo.1_Nonsense_Mutation_p.W103*	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	103										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGAGTCGGCGCCAGATGGCCT	0.458		NaN											0	0	0	0.010729	0	11	43				
SLC5A9	200010	broad.mit.edu	37	1	48697274	48697274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:48697274G>A	uc001cro.2	+	6	720	c.668G>A	c.(667-669)GGA>GAA	p.G223E	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.G248E|SLC5A9_uc010omt.1_Missense_Mutation_p.G237E|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	223	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						ATGGTAGGGGGAGCCCTGGTC	0.537		NaN											0	0	0	0.004482	0	9	23				
ALG6	29929	broad.mit.edu	37	1	63902557	63902557	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:63902557C>G	uc010oow.1	+	15	1695	c.1390C>G	c.(1390-1392)CAG>GAG	p.Q464E	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Missense_Mutation_p.Q211E	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	464					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						GGATCCTCCTCAGAAACTACC	0.373		NaN											0	0	0	0.015359	0	31	126				
LPHN2	23266	broad.mit.edu	37	1	82451025	82451025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:82451025C>G	uc001dit.3	+	20	3624	c.3443C>G	c.(3442-3444)TCA>TGA	p.S1148*	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S1148*|LPHN2_uc001div.2_Nonsense_Mutation_p.S1148*|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Nonsense_Mutation_p.S732*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1161	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATAGCACTTCAACACTTAAT	0.289		NaN											0	0	0	0.009096	0	4	13				
COL24A1	255631	broad.mit.edu	37	1	86252137	86252137	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:86252137C>G	uc001dlj.2	-	48	4001	c.3959G>C	c.(3958-3960)AGA>ACA	p.R1320T	COL24A1_uc001dli.2_Missense_Mutation_p.R456T|COL24A1_uc010osd.1_Missense_Mutation_p.R620T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1320	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCCGCCTCTGATGCCCTA	0.478		NaN											0	0	0	0.008291	0	11	34				
HCN3	57657	broad.mit.edu	37	1	155252454	155252454	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155252454C>T	uc001fjz.1	+	2	539	c.531C>T	c.(529-531)CTC>CTT	p.L177L	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	177	Helical; Name=Segment S3; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTTGACCTCATCTCTTCTA	0.607		NaN											0	0	0	0.016723	0	12	70				
RUSC1	23623	broad.mit.edu	37	1	155292388	155292388	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:155292388C>G	uc001fkj.2	+	2	1053	c.824C>G	c.(823-825)TCT>TGT	p.S275C	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S275C|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	275						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AAATTCGACTCTGGTTGGAAA	0.428		NaN											0	0	0	0.00308	0	8	142				
ATP1A4	480	broad.mit.edu	37	1	160156121	160156121	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:160156121G>A	uc001fve.3	+	21	3504	c.3025G>A	c.(3025-3027)GAA>AAA	p.E1009K	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.E512K|ATP1A4_uc001fvh.2_Missense_Mutation_p.E145K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1009	Helical; (Potential).			ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCTATGATGAAATCAGAAA	0.557		NaN											0	0	0	0.01441	0	52	214				
MYOC	4653	broad.mit.edu	37	1	171621749	171621749	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:171621749C>T	uc001ghu.2	-	1	25	c.3G>A	c.(1-3)ATG>ATA	p.M1I	MYOC_uc010pmk.1_Missense_Mutation_p.M1I	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	1					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGAAGAACCTCATTGCAGAGG	0.612		NaN											0	0	0	0.00308	0	7	18				
PLEKHA6	22874	broad.mit.edu	37	1	204228731	204228731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:204228731C>G	uc001hau.2	-	8	979	c.662G>C	c.(661-663)AGA>ACA	p.R221T	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	221	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCAGGCCTTCTCTCTGCCTT	0.637		NaN											0	0	0	0.004007	0	14	56				
RYR2	6262	broad.mit.edu	37	1	237881784	237881784	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:237881784G>A	uc001hyl.1	+	73	10637	c.10517G>A	c.(10516-10518)CGA>CAA	p.R3506Q	RYR2_uc010pxz.1_Missense_Mutation_p.R461Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAAGTACGAGATATAATC	0.333		NaN											0	0	0	0.004482	0	9	17				
HNRNPU	3192	broad.mit.edu	37	1	245017797	245017797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245017797C>G	uc001iaz.1	-	14	2651	c.2433G>C	c.(2431-2433)TGG>TGC	p.W811C	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.W535C|HNRNPU_uc001iba.1_Missense_Mutation_p.W792C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	811	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCTTCTGACCCCAGAATTGCT	0.328		NaN											0	0	0	0.016723	0	10	38				
KIF26B	55083	broad.mit.edu	37	1	245809541	245809541	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:245809541C>T	uc001ibf.1	+	10	2657	c.2217C>T	c.(2215-2217)GTC>GTT	p.V739V	KIF26B_uc010pyq.1_Silent_p.V739V|KIF26B_uc001ibg.1_Silent_p.V357V|KIF26B_uc001ibh.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	739	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGGCAATGTCATCCTGGCTC	0.502		NaN											0	0	0	0.001168	0	6	30				
ARHGAP12	94134	broad.mit.edu	37	10	32098165	32098165	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:32098165G>A	uc001ivz.1	-	17	2391	c.2121C>T	c.(2119-2121)GTC>GTT	p.V707V	ARHGAP12_uc001ivy.1_Silent_p.V653V|ARHGAP12_uc009xls.2_Silent_p.V658V|ARHGAP12_uc001iwb.1_Silent_p.V700V|ARHGAP12_uc001iwc.1_Silent_p.V675V|ARHGAP12_uc009xlq.1_Silent_p.V628V|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	707	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TACCATGATTGACTGCAAACC	0.343		NaN											0	0	0	0.009096	0	4	33				
MAPK8	5599	broad.mit.edu	37	10	49633981	49633981	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49633981G>C	uc009xnz.2	+	8	963	c.739G>C	c.(739-741)GAA>CAA	p.E247Q	MAPK8_uc001jgl.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgm.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgo.2_Missense_Mutation_p.E247Q|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.E247Q|MAPK8_uc010qgk.1_Missense_Mutation_p.E247Q|MAPK8_uc001jgp.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgq.2_Missense_Mutation_p.E247Q	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	247	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	p.E247*(1)		central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACCATGTCCTGAATTCATGAA	0.343		NaN											0	0	0	0.004482	0	7	45				
MAPK8	5599	broad.mit.edu	37	10	49634089	49634089	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:49634089G>C	uc009xnz.2	+	8	1071	c.847G>C	c.(847-849)GAC>CAC	p.D283H	MAPK8_uc001jgl.2_Missense_Mutation_p.D283H|MAPK8_uc001jgm.2_Missense_Mutation_p.D283H|MAPK8_uc001jgo.2_Missense_Mutation_p.D283H|MAPK8_uc009xoa.2_Missense_Mutation_p.D207H|MAPK8_uc001jgn.2_Missense_Mutation_p.D283H|MAPK8_uc010qgk.1_Missense_Mutation_p.D283H|MAPK8_uc001jgp.2_Missense_Mutation_p.D283H|MAPK8_uc001jgq.2_Missense_Mutation_p.D283H	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	283	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTTCCCAGCTGACTCAGAACA	0.378		NaN											0	0	0	0.001168	0	4	61				
CDK1	983	broad.mit.edu	37	10	62553724	62553724	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:62553724G>A	uc001jld.2	+	8	1019	c.885G>A	c.(883-885)AAG>AAA	p.K295K	CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Silent_p.K295K|CDK1_uc001jlg.2_Silent_p.K238K	NM_001786	NP_001777	P06493	CDK1_HUMAN	cell division cycle 2 isoform 1	295					activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						ATCAGATTAAGAAGATGTAGC	0.294		NaN											0	0	0	0.004482	0	7	34				
TMEM26	219623	broad.mit.edu	37	10	63170341	63170341	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:63170341G>A	uc001jlo.2	-	6	1215	c.846C>T	c.(844-846)ATC>ATT	p.I282I	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	282	Helical; (Potential).					integral to membrane					0	Prostate(12;0.0112)					GCATCTGATTGATCACTTTGA	0.507		NaN											0	0	0	0.004482	0	7	16				
ACTA2	59	broad.mit.edu	37	10	90697972	90697972	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr10:90697972G>T	uc001kfp.2	-	8	952	c.836C>A	c.(835-837)ACC>AAC	p.T279N	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.T234N|ACTA2_uc001kfq.2_Missense_Mutation_p.T279N|uc001kfo.1_RNA	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	279					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTTGTAGGTGGTTTCATGGAT	0.493		NaN											1	0	9.31168e-06	0.016723	9.93246e-06	12	86				
GANAB	23193	broad.mit.edu	37	11	62393546	62393547	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:62393546_62393547GG>AA	uc001nub.2	-	23	2748_2749	c.2715_2716CC>TT	c.(2713-2718)CTCCAG>CTTTAG	p.Q906*	GANAB_uc001ntz.2_Nonsense_Mutation_p.Q93*|GANAB_uc001nua.2_Nonsense_Mutation_p.Q928*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q809*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q814*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q792*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	906					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CCTTTTGTCTGGAGTACCACAG	0.554		NaN											0	0	0	0.004672	0	11	356				
ATL3	25923	broad.mit.edu	37	11	63403040	63403040	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:63403040C>G	uc001nxk.1	-	10	1277	c.1001G>C	c.(1000-1002)GGA>GCA	p.G334A	ATL3_uc010rms.1_Missense_Mutation_p.G316A|ATL3_uc010rmr.1_5'UTR	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	334	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						CAGATCTTCTCCTTGATAAAT	0.303		NaN									OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	50				
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:65161533G>A	uc001odu.3	+	5	569	c.377G>A	c.(376-378)CGA>CAA	p.R126Q	FRMD8_uc009yqj.2_Missense_Mutation_p.R70Q|FRMD8_uc010rof.1_Missense_Mutation_p.R92Q	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						CTGCAGTTCCGAAGGAACGTG	0.672		NaN											0	0	0	0.016723	0	11	30				
RNF169	254225	broad.mit.edu	37	11	74547657	74547657	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:74547657G>A	uc001ovl.3	+	6	2022	c.2009G>A	c.(2008-2010)CGA>CAA	p.R670Q	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	670							zinc ion binding			ovary(1)	1						GAAGAAGACCGACAGTTGGCT	0.552		NaN											0	0	0	0.016723	0	13	57				
C11orf30	56946	broad.mit.edu	37	11	76175124	76175124	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:76175124G>A	uc001oxl.2	+	7	974	c.831G>A	c.(829-831)AAG>AAA	p.K277K	C11orf30_uc009yuj.1_Silent_p.K292K|C11orf30_uc010rsa.1_Silent_p.K227K|C11orf30_uc001oxm.2_Silent_p.K278K|C11orf30_uc010rsb.1_Silent_p.K292K|C11orf30_uc010rsc.1_Silent_p.K292K|C11orf30_uc001oxn.2_Silent_p.K278K|C11orf30_uc010rsd.1_Silent_p.K291K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	277	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						CAACACAGAAGGTATGTGGTG	0.348		NaN											0	0	0	0.008291	0	9	30				
ATM	472	broad.mit.edu	37	11	108115627	108115627	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:108115627C>T	uc001pkb.1	+	7	1160	c.775C>T	c.(775-777)CTT>TTT	p.L259F	ATM_uc009yxr.1_Missense_Mutation_p.L259F	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	259					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGATGAAATTCTTCCCACTTT	0.338		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.009096	0	4	67		Valid		
PKNOX2	63876	broad.mit.edu	37	11	125281675	125281675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr11:125281675G>A	uc001qbu.2	+	10	1164	c.850G>A	c.(850-852)GAG>AAG	p.E284K	PKNOX2_uc010saz.1_Missense_Mutation_p.E255K|PKNOX2_uc010sba.1_Missense_Mutation_p.E255K|PKNOX2_uc010sbb.1_Missense_Mutation_p.E220K|PKNOX2_uc001qbv.2_Missense_Mutation_p.E49K	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	284						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCTGGACAATGAGGATAAGAA	0.527		NaN											0	0	0	0.020292	0	15	44				
MRPS35	60488	broad.mit.edu	37	12	27877118	27877118	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:27877118G>C	uc001rih.2	+	5	569	c.521G>C	c.(520-522)AGA>ACA	p.R174T	MRPS35_uc001rii.2_Missense_Mutation_p.R174T	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	174					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)					GTAGTCTTAAGAGTAAGAGTT	0.289		NaN											0	0	0	0.004482	0	6	31				
IPO8	10526	broad.mit.edu	37	12	30814158	30814158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:30814158C>T	uc001rjd.2	-	16	1968	c.1798G>A	c.(1798-1800)GAA>AAA	p.E600K	IPO8_uc001rje.1_Missense_Mutation_p.E89K|IPO8_uc010sjt.1_Missense_Mutation_p.E395K	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	600					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTCAACTTCTTCATATTCA	0.338		NaN											0	0	0	0.004482	0	9	25				
IRAK4	51135	broad.mit.edu	37	12	44166804	44166804	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:44166804G>C	uc001rnu.3	+	6	710	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	IRAK4_uc001rnt.3_Missense_Mutation_p.E194Q|IRAK4_uc001rnx.3_Missense_Mutation_p.E70Q|IRAK4_uc001rny.3_Missense_Mutation_p.E70Q|IRAK4_uc010sky.1_Missense_Mutation_p.E70Q|IRAK4_uc001rnv.3_Missense_Mutation_p.E70Q|IRAK4_uc001rnw.3_Missense_Mutation_p.E70Q	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	194	ATP (By similarity).|Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAAAATGGGAGAGGGAGGATT	0.338		NaN											0	0	0	0.006214	0	9	30				
MYBPC1	4604	broad.mit.edu	37	12	102043044	102043044	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:102043044G>C	uc001tii.2	+	13	1230	c.1128G>C	c.(1126-1128)AAG>AAC	p.K376N	MYBPC1_uc001tif.1_Missense_Mutation_p.K389N|MYBPC1_uc001tig.2_Missense_Mutation_p.K401N|MYBPC1_uc010svq.1_Missense_Mutation_p.K363N|MYBPC1_uc001tih.2_Missense_Mutation_p.K401N|MYBPC1_uc001tij.2_Missense_Mutation_p.K376N|MYBPC1_uc010svr.1_Missense_Mutation_p.K376N|MYBPC1_uc010svs.1_Missense_Mutation_p.K376N|MYBPC1_uc010svt.1_Missense_Mutation_p.K364N|MYBPC1_uc010svu.1_Missense_Mutation_p.K357N|MYBPC1_uc001tik.2_Missense_Mutation_p.K350N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	376	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TCAGGTTTAAGAATGGTGAAG	0.239		NaN											0	0	0	0.006214	0	10	36				
HIP1R	9026	broad.mit.edu	37	12	123340550	123340550	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr12:123340550G>A	uc001udj.1	+	14	1211	c.1152G>A	c.(1150-1152)CTG>CTA	p.L384L	HIP1R_uc001udg.1_Silent_p.L372L|HIP1R_uc001udi.1_Silent_p.L384L|HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	384	Potential.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TCGCGCAGCTGAAGAGCCAGG	0.692		NaN											0	0	0	0.009096	0	4	9				
TUBA3C	7278	broad.mit.edu	37	13	19748219	19748219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr13:19748219G>C	uc009zzj.2	-	5	1186	c.1137C>G	c.(1135-1137)AGC>AGG	p.S379R		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	379					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGTGGTGTTGCTCAGCATGC	0.622		NaN											0	0	0	0.012319	0	20	64				
MYH7	4625	broad.mit.edu	37	14	23887584	23887584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:23887584G>A	uc001wjx.2	-	30	4110	c.4004C>T	c.(4003-4005)TCG>TTG	p.S1335L	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGCCGGGCCGACTGCAGTGC	0.657		NaN											0	0	0	0.003163	0	13	29				
DAAM1	23002	broad.mit.edu	37	14	59819340	59819340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:59819340G>C	uc001xdz.1	+	19	2412	c.2287G>C	c.(2287-2289)GAG>CAG	p.E763Q	DAAM1_uc001xea.1_Missense_Mutation_p.E753Q|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	763	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTTCCTTTTTGAGATGAGCCG	0.403		NaN											0	0	0	0.004482	0	8	18				
NUMB	8650	broad.mit.edu	37	14	73743889	73743889	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr14:73743889G>C	uc001xny.1	-	13	1673	c.1353C>G	c.(1351-1353)GTC>GTG	p.V451V	NUMB_uc010aro.1_Silent_p.V256V|NUMB_uc010arp.1_Silent_p.V245V|NUMB_uc010arq.1_Silent_p.V305V|NUMB_uc010arr.1_Silent_p.V294V|NUMB_uc001xoa.1_Silent_p.V403V|NUMB_uc001xnz.1_Silent_p.V440V|NUMB_uc001xob.1_Silent_p.V392V|NUMB_uc001xod.1_Silent_p.V403V|NUMB_uc001xoc.1_Silent_p.V451V|NUMB_uc010ars.1_Silent_p.V440V|NUMB_uc010ttz.1_Silent_p.V149V|NUMB_uc001xoe.2_RNA	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	451					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTGAGCCCGGACGCTCTTAG	0.607		NaN											0	0	0	0.004482	0	8	28				
RPAP1	26015	broad.mit.edu	37	15	41822071	41822071	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41822071C>G	uc001zod.2	-	8	1174	c.1050G>C	c.(1048-1050)CAG>CAC	p.Q350H		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	350						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTCCTGTGTCTGCTGCCGCC	0.607		NaN											0	0	0	0.001984	0	7	23				
RPAP1	26015	broad.mit.edu	37	15	41823249	41823249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823249C>G	uc001zod.2	-	7	1039	c.915G>C	c.(913-915)AAG>AAC	p.K305N		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	305						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTGTCTCTCTTCCTGGGCT	0.557		NaN											0	0	0	0.01441	0	51	133				
RPAP1	26015	broad.mit.edu	37	15	41823378	41823378	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:41823378C>G	uc001zod.2	-	7	910	c.786G>C	c.(784-786)TTG>TTC	p.L262F		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	262						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGTGAGATCTCAAGAAAGCAA	0.567		NaN											0	0	0	0.010771	0	40	163				
PYGO1	26108	broad.mit.edu	37	15	55839115	55839115	+	Nonsense_Mutation	SNP	G	G	T	rs149582531		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:55839115G>T	uc010bfl.1	-	3	422	c.366C>A	c.(364-366)TAC>TAA	p.Y122*	PYGO1_uc002adf.1_Nonsense_Mutation_p.Y122*	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	122	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCCTGAGTGAGTAAGGACCAC	0.473		NaN											1	0	6.31663e-08	0.003163	6.9105e-08	16	55				
HEXA	3073	broad.mit.edu	37	15	72645501	72645501	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:72645501C>T	uc002aun.3	-	5	685	c.478G>A	c.(478-480)GAG>AAG	p.E160K	CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E171K|HEXA_uc002auo.3_Missense_Mutation_p.E23K|HEXA_uc010bix.2_Missense_Mutation_p.E160K|HEXA_uc010biy.2_Missense_Mutation_p.E23K|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	160					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						TCCTCAATCTCAGTCTTGTTG	0.488		NaN											0	0	0	0.014758	0	5	19				
ZNF710	374655	broad.mit.edu	37	15	90611183	90611183	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90611183G>C	uc002bov.1	+	2	937	c.814G>C	c.(814-816)GAT>CAT	p.D272H		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCCCAGCTGGATCGGCTGGA	0.632		NaN											0	0	0	0.010504	0	19	74				
C15orf58	390637	broad.mit.edu	37	15	90785018	90785018	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr15:90785018G>A	uc002bpc.2	+	4	1057	c.878G>A	c.(877-879)CGG>CAG	p.R293Q		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	293					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						TTTGTCACCCGGGGAGCTCCG	0.557		NaN											0	0	0	0.008291	0	10	68				
IGFALS	3483	broad.mit.edu	37	16	1841120	1841120	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:1841120C>T	uc002cmy.2	-	2	1380	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	IGFALS_uc010uvn.1_Silent_p.L471L|IGFALS_uc010uvo.1_Silent_p.L67L	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	433					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GCAGCTCCGCCAGCCCCCACA	0.682		NaN											0	0	0	0.001168	0	6	14				
SHCBP1	79801	broad.mit.edu	37	16	46650007	46650007	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:46650007G>A	uc002eec.3	-	4	487	c.447C>T	c.(445-447)CTC>CTT	p.L149L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	149										ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAGAGTCACAGAGGTATGGTT	0.468		NaN											0	0	0	0.020292	0	13	57				
ZNF276	92822	broad.mit.edu	37	16	89788955	89788955	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr16:89788955C>T	uc002fos.3	+	2	319	c.222C>T	c.(220-222)CTC>CTT	p.L74L	C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_5'UTR|ZNF276_uc002foq.3_5'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCGGGCTCTCGCCATGGGTC	0.662		NaN											0	0	0	0.001168	0	6	53				
ZZEF1	23140	broad.mit.edu	37	17	4017635	4017635	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:4017635G>C	uc002fxe.2	-	4	888	c.824C>G	c.(823-825)TCC>TGC	p.S275C	ZZEF1_uc002fxk.1_Missense_Mutation_p.S275C	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	275	DOC.						calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTGCCAGTAGGATGAGGTTTC	0.388		NaN											0	0	0	0.005524	0	33	88				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.004482	0	8	21		Valid		
SREBF1	6720	broad.mit.edu	37	17	17723649	17723649	+	Missense_Mutation	SNP	G	G	A	rs149599437		TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:17723649G>A	uc002gru.1	-	2	472	c.278C>T	c.(277-279)GCG>GTG	p.A93V	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.A69V|SREBF1_uc002grt.1_Missense_Mutation_p.A123V|SREBF1_uc010cpp.1_Missense_Mutation_p.A69V|SREBF1_uc010cpq.1_Missense_Mutation_p.A93V	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	93	Pro/Ser-rich.|Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGGTGAGGGCGCTGCCTGCGG	0.637		NaN											0	0	0	0.00632	0	28	59				
ACACA	31	broad.mit.edu	37	17	35445914	35445914	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:35445914G>C	uc002hnm.2	-	55	7067	c.6876C>G	c.(6874-6876)ATC>ATG	p.I2292M	ACACA_uc002hnk.2_Missense_Mutation_p.I2214M|ACACA_uc002hnl.2_Missense_Mutation_p.I2234M|ACACA_uc002hnn.2_Missense_Mutation_p.I2292M|ACACA_uc002hno.2_Missense_Mutation_p.I2329M|ACACA_uc010cuy.2_Missense_Mutation_p.I937M|ACACA_uc010wdb.1_Missense_Mutation_p.I330M|ACACA_uc010wdc.1_Missense_Mutation_p.I418M	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2292					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGATGCATTTGATGTTTTCCT	0.463		NaN											0	0	0	0.006214	0	10	221				
C17orf53	78995	broad.mit.edu	37	17	42225570	42225570	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42225570C>T	uc002ifi.1	+	3	584	c.399C>T	c.(397-399)GCC>GCT	p.A133A	C17orf53_uc010czq.1_Silent_p.A133A|C17orf53_uc002ifj.1_Silent_p.A133A|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	133											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTCCTCAGCCTTACACCCCC	0.517		NaN											0	0	0	0.004482	0	7	173				
GFAP	2670	broad.mit.edu	37	17	42985496	42985496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:42985496G>C	uc002ihq.2	-	8	1253	c.1193C>G	c.(1192-1194)TCT>TGT	p.S398C		NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	398	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592		NaN											0	0	0	0.012213	0	31	75				
B4GALNT2	124872	broad.mit.edu	37	17	47218697	47218697	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:47218697G>A	uc002ion.2	+	2	342	c.283G>A	c.(283-285)GCA>ACA	p.A95T	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A9T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A35T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	95	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GTTCCTTCAAGCAGTGTTCAG	0.507		NaN											0	0	0	0.015359	0	34	119				
RPTOR	57521	broad.mit.edu	37	17	78936369	78936369	+	Silent	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr17:78936369G>C	uc002jyt.1	+	32	4606	c.3801G>C	c.(3799-3801)CTG>CTC	p.L1267L	RPTOR_uc010wug.1_Silent_p.L1109L|RPTOR_uc002jyu.1_Silent_p.L160L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	1267	WD 6.				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						AGGCGGACCTGATCGCATGGT	0.642		NaN											0	0	0	0.010729	0	11	43				
MYOM1	8736	broad.mit.edu	37	18	3090701	3090701	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr18:3090701C>G	uc002klp.2	-	27	4298	c.3964G>C	c.(3964-3966)GAT>CAT	p.D1322H	MYOM1_uc002klq.2_Missense_Mutation_p.D1226H	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1322						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCTTTTCCATCTTGAAGCTGG	0.413		NaN											0	0	0	0.005443	0	28	61				
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:2737188G>A	uc002lwg.2	-	2	322	c.68C>T	c.(67-69)TCC>TTC	p.S23F	SLC39A3_uc010xgy.1_Missense_Mutation_p.S23F|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23F	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	23	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547		NaN											0	0	0	0.009096	0	3	22				
MUC16	94025	broad.mit.edu	37	19	9048660	9048660	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:9048660G>C	uc002mkp.2	-	5	33175	c.32971C>G	c.(32971-32973)CTG>GTG	p.L10991V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10993	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTAGCAACCAGAGAGGTCACC	0.512		NaN											0	0	0	0.001984	0	7	66				
WIZ	58525	broad.mit.edu	37	19	15536463	15536463	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:15536463C>T	uc002nbc.2	-	5	1743	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K	WIZ_uc002nba.3_Missense_Mutation_p.E441K|WIZ_uc002nbb.3_Missense_Mutation_p.E400K	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1257						nucleus	zinc ion binding				0						ACGGACCACTCGGTCACACCC	0.612		NaN											0	0	0	0.001168	0	6	32				
KCNN1	3780	broad.mit.edu	37	19	18085055	18085055	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:18085055G>A	uc002nht.2	+	3	668	c.358G>A	c.(358-360)GTC>ATC	p.V120I	KCNN1_uc010xqa.1_Missense_Mutation_p.V120I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	120	Helical; Name=Segment S1; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						TGGCATCGTCGTCATGGTGAC	0.642		NaN											0	0	0	0.004672	0	3	37				
LIPE	3991	broad.mit.edu	37	19	42906947	42906947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:42906947C>G	uc002otr.2	-	9	3056	c.2779G>C	c.(2779-2781)GAG>CAG	p.E927Q	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	927					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				GGGCTCAGCTCATTTTTGGCC	0.612		NaN											0	0	0	0.008291	0	10	38				
ZNF415	55786	broad.mit.edu	37	19	53612598	53612598	+	Missense_Mutation	SNP	G	G	A	rs150561707	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr19:53612598G>A	uc002qax.2	-	7	1193	c.844C>T	c.(844-846)CGT>TGT	p.R282C	ZNF415_uc002qat.2_Missense_Mutation_p.R246C|ZNF415_uc002qaw.2_Missense_Mutation_p.R234C|ZNF415_uc010yds.1_Missense_Mutation_p.R234C|ZNF415_uc010ydt.1_Missense_Mutation_p.R234C|ZNF415_uc002qau.2_Missense_Mutation_p.R221C|ZNF415_uc002qav.2_Missense_Mutation_p.R246C|ZNF415_uc002qba.2_Missense_Mutation_p.R4C|ZNF415_uc002qay.2_Missense_Mutation_p.R221C|ZNF415_uc002qaz.2_Missense_Mutation_p.R282C	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	282	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CTTACCTGACGTACAGTCATG	0.398		NaN											0	0	0	0.007291	0	30	67				
RETSAT	54884	broad.mit.edu	37	2	85577947	85577947	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:85577947G>C	uc002spd.2	-	3	744	c.553C>G	c.(553-555)CCA>GCA	p.P185A	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.P124A|RETSAT_uc010fgf.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	185					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	TCCTCCTGTGGAAACTTCTCC	0.468		NaN											0	0	0	0.001168	0	6	152				
EIF2AK3	9451	broad.mit.edu	37	2	88888374	88888374	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:88888374G>A	uc002stc.3	-	7	1413	c.1211C>T	c.(1210-1212)TCA>TTA	p.S404L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	404	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAACTTTTCTGAAATTCTGAC	0.338		NaN											0	0	0	0.00632	0	25	78				
NFE2L2	4780	broad.mit.edu	37	2	178098954	178098954	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:178098954C>T	uc002ulh.3	-	2	646	c.91G>A	c.(91-93)GGA>AGA	p.G31R	NFE2L2_uc002ulg.3_Missense_Mutation_p.G15R|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15R|NFE2L2_uc002uli.3_Missense_Mutation_p.G15R|NFE2L2_uc010fra.2_Missense_Mutation_p.G15R|NFE2L2_uc010frb.2_Missense_Mutation_p.G15R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31R(1)		central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CGACTTACTCCAAGATCTATA	0.358		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.010729	0	11	35		Valid		
AOX1	316	broad.mit.edu	37	2	201515748	201515748	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr2:201515748G>A	uc002uvx.2	+	26	3000	c.2899G>A	c.(2899-2901)GAG>AAG	p.E967K	AOX1_uc010zhf.1_Missense_Mutation_p.E523K|AOX1_uc010fsu.2_Missense_Mutation_p.E333K	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	967					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTACAAACAAGAGATCAATGC	0.418		NaN											0	0	0	0.003163	0	13	79				
SPTLC3	55304	broad.mit.edu	37	20	13098330	13098330	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:13098330C>T	uc002wod.1	+	8	1399	c.1110C>T	c.(1108-1110)ACC>ACT	p.T370T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	370					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GCACATTCACCAAAAGTTTTG	0.542		NaN											0	0	0	0.013537	0	13	81				
CRNKL1	51340	broad.mit.edu	37	20	20024216	20024216	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:20024216C>G	uc002wrs.2	-	8	1407	c.1375G>C	c.(1375-1377)GAG>CAG	p.E459Q		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	459	HAT 7.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						AACTTCTTCTCAAAGATGGTA	0.408		NaN											0	0	0	0.014758	0	5	103				
PRPF6	24148	broad.mit.edu	37	20	62657330	62657330	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr20:62657330G>A	uc002yho.2	+	15	2115	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V	PRPF6_uc002yhp.2_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	649	HAT 6.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGGCAGCCGTGAAGCTGGAGT	0.652		NaN											0	0	0	0.01441	0	62	207				
SFRS15	57466	broad.mit.edu	37	21	33076226	33076226	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr21:33076226T>A	uc002ypd.2	-	4	599	c.173A>T	c.(172-174)TAC>TTC	p.Y58F	SFRS15_uc002ype.2_Missense_Mutation_p.Y58F|SFRS15_uc010glu.2_Missense_Mutation_p.Y43F|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.Y58F	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	58	CID.					nucleus	nucleotide binding|RNA binding				0						CGGAACCTTGTATTCTGGTTT	0.348		NaN											0	0	0	0.004672	0	3	44				
SETD5	55209	broad.mit.edu	37	3	9483388	9483388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:9483388C>T	uc003brt.2	+	9	1357	c.922C>T	c.(922-924)CGA>TGA	p.R308*	SETD5_uc003brs.1_Nonsense_Mutation_p.R289*|SETD5_uc003bru.2_Nonsense_Mutation_p.R210*|SETD5_uc003brv.2_Nonsense_Mutation_p.R197*|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	308	SET.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGTCATGTTACGACAGCAATT	0.443		NaN											0	0	0	0.004007	0	14	80				
SCN11A	11280	broad.mit.edu	37	3	38888407	38888407	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:38888407C>G	uc011ays.1	-	26	5353	c.5154G>C	c.(5152-5154)AAG>AAC	p.K1718N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1718					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATACAACTTCTTGAGAGGAT	0.433		NaN											0	0	0	0.021022	0	35	145				
ALCAM	214	broad.mit.edu	37	3	105243325	105243325	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:105243325G>A	uc003dvx.2	+	3	907	c.367G>A	c.(367-369)GAG>AAG	p.E123K	ALCAM_uc003dvv.2_Missense_Mutation_p.E123K|ALCAM_uc003dvw.1_Missense_Mutation_p.E123K|ALCAM_uc003dvy.2_Missense_Mutation_p.E123K|ALCAM_uc011bhh.1_Missense_Mutation_p.E72K	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	123	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						CAACGTGTTTGAGGCACCTAC	0.418		NaN											0	0	0	0.012319	0	21	64				
C3orf15	89876	broad.mit.edu	37	3	119451310	119451310	+	Silent	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:119451310C>G	uc003ede.3	+	9	1265	c.1188C>G	c.(1186-1188)CTC>CTG	p.L396L	C3orf15_uc010hqy.1_Silent_p.L396L|C3orf15_uc010hqz.2_Silent_p.L334L|C3orf15_uc011bjd.1_Silent_p.L270L|C3orf15_uc011bje.1_Silent_p.L376L|C3orf15_uc010hra.1_Silent_p.L157L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		ACTACTATCTCAACACCTATG	0.323		NaN											0	0	0	0.004482	0	9	19				
GK5	256356	broad.mit.edu	37	3	141889249	141889249	+	Silent	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:141889249G>A	uc003euq.1	-	15	1490	c.1359C>T	c.(1357-1359)GAC>GAT	p.D453D	GK5_uc003eup.1_Silent_p.D174D|GK5_uc010hus.1_RNA	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	453					glycerol metabolic process		ATP binding|glycerol kinase activity				0						CATTAATCAGGTCTGAAGTCA	0.408		NaN											0	0	0	0.009096	0	4	64				
MBNL1	4154	broad.mit.edu	37	3	152018007	152018007	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:152018007C>T	uc003ezm.2	+	1	814	c.25C>T	c.(25-27)CGG>TGG	p.R9W	MBNL1_uc003ezh.2_Missense_Mutation_p.R9W|MBNL1_uc003ezi.2_Missense_Mutation_p.R9W|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.R9W|MBNL1_uc003ezp.2_Missense_Mutation_p.R9W|MBNL1_uc003ezn.2_Missense_Mutation_p.R9W|MBNL1_uc003ezo.2_Missense_Mutation_p.R9W|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	9					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACACCAATTCGGGACACAAA	0.438		NaN											0	0	0	0.004007	0	14	49				
TBL1XR1	79718	broad.mit.edu	37	3	176752109	176752109	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:176752109C>A	uc003fiw.3	-	13	1387	c.1127G>T	c.(1126-1128)TGG>TTG	p.W376L	TBL1XR1_uc003fix.3_Missense_Mutation_p.W376L|TBL1XR1_uc011bpz.1_Missense_Mutation_p.W48L	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	376	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTTCATACTCCATATCTAAAC	0.269		NaN											1	0	0.00116845	0.001168	0.00123604	6	13				
EVC2	132884	broad.mit.edu	37	4	5633669	5633669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:5633669C>T	uc003gij.2	-	11	1615	c.1561G>A	c.(1561-1563)GAC>AAC	p.D521N	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.D441N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	521	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TTGGCAAAGTCTTCTTCTTGT	0.468		NaN											0	0	0	0.014758	0	5	89				
RFC1	5981	broad.mit.edu	37	4	39290425	39290425	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:39290425C>G	uc003gty.1	-	25	3537	c.3403G>C	c.(3403-3405)GAT>CAT	p.D1135H	RFC1_uc003gtx.1_Missense_Mutation_p.D1134H	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1135					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						GGCTCCTTATCTTTTTCTGGT	0.363		NaN											0	0	0	0.006122	0	17	50				
FAT1	2195	broad.mit.edu	37	4	187549509	187549509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549509G>A	uc003izf.2	-	9	4797	c.4609C>T	c.(4609-4611)CAA>TAA	p.Q1537*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1537	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGCACATCTTGATCTCGTACC	0.458		NaN								HNSCC(5;0.00058)			0	0	0	0.004482	0	7	9				
FAT1	2195	broad.mit.edu	37	4	187549807	187549807	+	Silent	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr4:187549807G>T	uc003izf.2	-	8	4622	c.4434C>A	c.(4432-4434)ATC>ATA	p.I1478I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1478	Extracellular (Potential).|Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCACAGCACTGATTTGCAAAA	0.398		NaN								HNSCC(5;0.00058)			1	0	4.96729e-08	0.008871	5.48115e-08	20	25				
CTNND2	1501	broad.mit.edu	37	5	11346575	11346575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:11346575C>T	uc003jfa.1	-	9	1682	c.1537G>A	c.(1537-1539)GAG>AAG	p.E513K	CTNND2_uc010itt.2_Missense_Mutation_p.E422K|CTNND2_uc011cmy.1_Missense_Mutation_p.E176K|CTNND2_uc011cmz.1_Missense_Mutation_p.E80K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.E80K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	513					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TATGGAGACTCAACAGAGGGA	0.607		NaN											0	0	0	0.009535	0	26	96				
VCAN	1462	broad.mit.edu	37	5	82868358	82868358	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:82868358T>G	uc003kii.3	+	13	10215	c.9859T>G	c.(9859-9861)TAT>GAT	p.Y3287D	VCAN_uc003kij.3_Missense_Mutation_p.Y2300D|VCAN_uc010jau.2_Missense_Mutation_p.Y1533D|VCAN_uc003kik.3_Missense_Mutation_p.Y546D|VCAN_uc003kil.3_Missense_Mutation_p.Y1951D	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3287	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATCTCACCTATACGTGCAA	0.383		NaN											0	0	0	0.013537	0	12	47				
F12	2161	broad.mit.edu	37	5	176833003	176833003	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr5:176833003G>A	uc003mgo.3	-	3	224	c.175C>T	c.(175-177)CAC>TAC	p.H59Y	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	59	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACATTTGTGGTACAGCTGC	0.607		NaN							Hereditary_Angioedema				0	0	0	0.019004	0	32	112				
BTN3A3	10384	broad.mit.edu	37	6	26452381	26452381	+	Silent	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:26452381C>T	uc003nhz.2	+	11	1677	c.1497C>T	c.(1495-1497)TTC>TTT	p.F499F	BTN3A3_uc003nia.2_Silent_p.F457F|BTN3A3_uc011dkn.1_Silent_p.F450F	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	499	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						ATCCTGTTTTCAGAATTTTGA	0.478		NaN											0	0	0	0.001168	0	5	124				
ORC3L	23595	broad.mit.edu	37	6	88317511	88317511	+	Missense_Mutation	SNP	C	C	T	rs149324991	byFrequency	TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:88317511C>T	uc003pmh.2	+	6	592	c.548C>T	c.(547-549)TCA>TTA	p.S183L	ORC3L_uc011dzl.1_Missense_Mutation_p.S183L|ORC3L_uc011dzm.1_Missense_Mutation_p.S183L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S183L|ORC3L_uc003pmi.2_Missense_Mutation_p.S183L|ORC3L_uc011dzo.1_Missense_Mutation_p.S40L|ORC3L_uc011dzp.1_Missense_Mutation_p.S40L	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	183					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		TCAATGGATTCACTTTCCAGT	0.373		NaN											0	0	0	0.01892	0	23	65				
BCLAF1	9774	broad.mit.edu	37	6	136599223	136599223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:136599223G>A	uc003qgx.1	-	4	1049	c.796C>T	c.(796-798)CAG>TAG	p.Q266*	BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q266*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q264*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q264*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	266					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGACTATGCTGAATGGAATGT	0.448		NaN											0	0	0	0.014758	0	5	38				
UTRN	7402	broad.mit.edu	37	6	144803379	144803379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr6:144803379G>A	uc003qkt.2	+	26	3634	c.3542G>A	c.(3541-3543)AGA>AAA	p.R1181K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1181	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGGAGGTGAGAGTGAAGATT	0.453		NaN											0	0	0	0.008291	0	9	33				
LANCL2	55915	broad.mit.edu	37	7	55459492	55459492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:55459492C>G	uc003tqp.2	+	2	789	c.211C>G	c.(211-213)CAT>GAT	p.H71D		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	71					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCAGATCATTCATAATTTCAT	0.363		NaN											0	0	0	0.013537	0	12	27				
PION	54103	broad.mit.edu	37	7	77010667	77010667	+	Silent	SNP	A	A	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:77010667A>G	uc003ugf.2	-	8	610	c.531T>C	c.(529-531)ATT>ATC	p.I177I	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	177					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						GAAATTGTTCAATATCTTTAA	0.289		NaN											0	0	0	0.001984	0	5	24				
MET	4233	broad.mit.edu	37	7	116409705	116409705	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr7:116409705G>A	uc003vij.2	+	12	2777	c.2590G>A	c.(2590-2592)GAT>AAT	p.D864N	MET_uc010lkh.2_Missense_Mutation_p.D882N|MET_uc011knj.1_Missense_Mutation_p.D434N	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	864	Extracellular (Potential).				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGGAAATGATATTGACCC	0.358		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.016723	0	14	42				
SGK223	157285	broad.mit.edu	37	8	8185504	8185504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:8185504C>T	uc003wsh.3	-	4	2788	c.2788G>A	c.(2788-2790)GGG>AGG	p.G930R		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	930							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGGGTGCTCCCGGTGGAGGCT	0.677		NaN											0	0	0	0.003163	0	14	47				
MCM4	4173	broad.mit.edu	37	8	48874100	48874100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:48874100C>G	uc003xqk.1	+	3	190	c.95C>G	c.(94-96)TCT>TGT	p.S32C	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.S32C|MCM4_uc011ldi.1_Missense_Mutation_p.S32C|MCM4_uc010lxw.1_RNA	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	32					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCCAGGTCATCTCCCTCTCAG	0.577		NaN											0	0	0	0.007413	0	16	37				
TM7SF4	81501	broad.mit.edu	37	8	105361016	105361016	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr8:105361016G>A	uc003ylx.1	+	2	285	c.236G>A	c.(235-237)CGA>CAA	p.R79Q		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	79					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGCATGCACGATGTTTTATT	0.522		NaN											0	0	0	0.004007	0	17	65				
CNTLN	54875	broad.mit.edu	37	9	17464544	17464544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr9:17464544G>C	uc003zmz.2	+	21	3477	c.3451G>C	c.(3451-3453)GAC>CAC	p.D1151H	CNTLN_uc003zmy.2_Missense_Mutation_p.D1152H|CNTLN_uc010mio.2_Missense_Mutation_p.D831H	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1152	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTGATAGAGGACTTGAAATT	0.294		NaN											0	0	0	0.001168	0	5	20				
CXorf21	80231	broad.mit.edu	37	X	30577604	30577604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:30577604C>T	uc004dcg.1	-	3	1145	c.869G>A	c.(868-870)AGT>AAT	p.S290N		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	290										ovary(1)	1						AATATGGAGACTAGGAGTGCT	0.368		NaN											0	0	0	0.013537	0	12	74				
FGD1	2245	broad.mit.edu	37	X	54497828	54497828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:54497828G>T	uc004dtg.2	-	2	1134	c.400C>A	c.(400-402)CGC>AGC	p.R134S	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	134	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGTCTGAGCGAAGCCGCTGG	0.612		NaN											1	0	1.99824e-07	0.00499	2.16758e-07	17	39				
KIAA2022	340533	broad.mit.edu	37	X	73962899	73962899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:73962899G>C	uc004eby.2	-	3	2110	c.1493C>G	c.(1492-1494)TCA>TGA	p.S498*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	498					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						ACCCTCTAGTGAGTCAACATC	0.438		NaN											0	0	0	0.008291	0	11	22				
ZNF75D	7626	broad.mit.edu	37	X	134427903	134427903	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chrX:134427903A>T	uc004eyp.2	-	3	2819	c.164T>A	c.(163-165)TTC>TAC	p.F55Y	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.F55Y	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGATAACGGAAGCTCCAGAA	0.478		NaN											0	0	0	0.010818	0	34	82				
C1orf158	93190	broad.mit.edu	37	1	12819342	12819342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:12819342C>T	uc001auh.2	+	3	541	c.325C>T	c.(325-327)CCG>TCG	p.P109S	C1orf158_uc010obe.1_Missense_Mutation_p.P109S	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	109										ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTACAACCCGGGGCTGCC	0.537		NaN											0	0	0	0.006122	0	17	182				
PTPRU	10076	broad.mit.edu	37	1	29651735	29651735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:29651735C>T	uc001bru.2	+	30	4285	c.4175C>T	c.(4174-4176)GCC>GTC	p.A1392V	PTPRU_uc001brv.2_Missense_Mutation_p.A1388V|PTPRU_uc001brw.2_Missense_Mutation_p.A1382V|PTPRU_uc009vtq.2_Missense_Mutation_p.A1386V|PTPRU_uc009vtr.2_Missense_Mutation_p.A1379V|PTPRU_uc001brx.2_Missense_Mutation_p.A118V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1392	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCTTCTGCGCCTGCGCCACG	0.577		NaN											0	0	0	0.010729	0	9	89				
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:67666418A>C	uc001ddo.2	+	5	577	c.492_splice	c.e5-2	p.S164_splice	IL23R_uc009waz.2_Intron|IL23R_uc001ddp.2_Splice_Site|IL23R_uc010opi.1_Splice_Site|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Splice_Site_p.S121_splice|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_Splice_Site|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Splice_Site_p.I9_splice|IL23R_uc001ddr.2_Splice_Site|IL23R_uc010opo.1_Splice_Site_p.S23_splice|IL23R_uc010opp.1_Splice_Site|IL23R_uc010opq.1_Splice_Site_p.S23_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_Splice_Site|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Splice_Site_p.S23_splice|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Intron|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Splice_Site|IL23R_uc010oqb.1_Splice_Site_p.S23_splice|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_Splice_Site|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						TTTTGTTTTAAGTTTAGAGAC	0.239		NaN											0	0	0	0.001168	0	5	75				
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:115258745C>G	uc009wgu.2	-	2	291	c.37G>C	c.(37-39)GGT>CGT	p.G13R		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13	GTP.		G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13D(174)|p.G13R(59)|p.G13V(55)|p.G13C(21)|p.G13A(16)|p.G13S(5)|p.G13G(3)|p.G13N(1)|p.G13Y(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			0	0	0	0.006214	0	9	97				
RUSC1	23623	broad.mit.edu	37	1	155294949	155294949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:155294949G>A	uc001fkj.2	+	4	1742	c.1513G>A	c.(1513-1515)GCC>ACC	p.A505T	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.A505T|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.A36T|RUSC1_uc001fkl.2_Missense_Mutation_p.A95T|RUSC1_uc001fkp.2_Missense_Mutation_p.A36T|RUSC1_uc001fkq.2_Missense_Mutation_p.A36T|RUSC1_uc010pgb.1_Missense_Mutation_p.A36T|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.A36T|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	505						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTCGGGGCCGCCCGGAACTT	0.622		NaN									OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	19	146				
MPZ	4359	broad.mit.edu	37	1	161276712	161276712	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:161276712C>A	uc001gaf.3	-	3	302	c.265_splice	c.e3-1	p.I89_splice	MPZ_uc010pko.1_Splice_Site	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero						synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGTGGAAGATCTATGAGGAAT	0.463		NaN											1	0	1.836e-18	0.003755	2.13644e-18	37	68				
EPRS	2058	broad.mit.edu	37	1	220195731	220195731	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:220195731C>T	uc001hly.1	-	9	1343	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	EPRS_uc010puf.1_Missense_Mutation_p.R109H|EPRS_uc001hlz.1_Missense_Mutation_p.R358H|EPRS_uc009xdt.1_Missense_Mutation_p.R159H	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	358	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATTTTGCAGCGATAAAGGGT	0.383		NaN											0	0	0	0.008291	0	11	204				
CUL2	8453	broad.mit.edu	37	10	35360158	35360158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:35360158C>T	uc001ixv.2	-	2	298	c.88G>A	c.(88-90)GTC>ATC	p.V30I	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.V49I|CUL2_uc001ixw.2_Missense_Mutation_p.V30I|CUL2_uc010qes.1_Missense_Mutation_p.V30I	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	30					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						GCTCTTTCGACGTATTCCAAC	0.358		NaN											0	0	0	0.001855	0	12	70				
HK1	3098	broad.mit.edu	37	10	71149006	71149006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:71149006G>A	uc001jpl.3	+	14	2090	c.1989G>A	c.(1987-1989)ATG>ATA	p.M663I	HK1_uc001jpg.3_Missense_Mutation_p.M651I|HK1_uc001jph.3_Missense_Mutation_p.M667I|HK1_uc001jpi.3_Missense_Mutation_p.M667I|HK1_uc001jpj.3_Missense_Mutation_p.M698I|HK1_uc001jpk.3_Missense_Mutation_p.M662I|HK1_uc009xqd.2_Missense_Mutation_p.M541I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	663	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GCACCATGATGACCTGTGCTT	0.527		NaN											0	0	0	0.004672	0	3	15				
KIAA1274	27143	broad.mit.edu	37	10	72292376	72292376	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:72292376G>T	uc001jrd.3	+	6	915	c.634_splice	c.e6-1	p.I212_splice		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274											ovary(2)|central_nervous_system(1)	3						CCTCCCTCTAGATCCACGACT	0.597		NaN											1	0	0.00909568	0.009096	0.00938909	4	70				
C10orf54	64115	broad.mit.edu	37	10	73521607	73521607	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:73521607G>A	uc001jsd.2	-	2	400	c.259C>T	c.(259-261)CGG>TGG	p.R87W	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R87W	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	87	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						CGGATGGGCCGGCGCTCTGAG	0.652		NaN											0	0	0	0.004672	0	3	43				
ECD	11319	broad.mit.edu	37	10	74896575	74896575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:74896575C>T	uc001jtn.2	-	13	1834	c.1591G>A	c.(1591-1593)GAA>AAA	p.E531K	ECD_uc009xqx.2_Missense_Mutation_p.E564K|ECD_uc009xqy.2_Missense_Mutation_p.E488K|ECD_uc001jto.2_Missense_Mutation_p.E230K	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	531					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)					GAAGCCTCTTCGCCAGGTTCG	0.448		NaN											0	0	0	0.006214	0	9	165				
SORCS1	114815	broad.mit.edu	37	10	108459108	108459108	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:108459108G>A	uc001kym.2	-	9	1285	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V	SORCS1_uc001kyl.2_Missense_Mutation_p.A426V|SORCS1_uc009xxs.2_Missense_Mutation_p.A426V|SORCS1_uc001kyn.1_Missense_Mutation_p.A426V|SORCS1_uc001kyo.2_Missense_Mutation_p.A426V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	426	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTTGGACCGCTGCGAACAC	0.478		NaN											0	0	0	0.001168	0	5	34				
TRUB1	142940	broad.mit.edu	37	10	116731913	116731913	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:116731913G>C	uc001lcd.2	+	6	677	c.616G>C	c.(616-618)GAT>CAT	p.D206H	TRUB1_uc010qsl.1_Missense_Mutation_p.D108H	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	206					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATTAAAGAAAGATGGACAAAG	0.413		NaN											0	0	0	0.014323	0	21	34				
SEC23IP	11196	broad.mit.edu	37	10	121677504	121677504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:121677504G>C	uc001leu.1	+	9	1773	c.1701G>C	c.(1699-1701)ATG>ATC	p.M567I	SEC23IP_uc010qtc.1_Missense_Mutation_p.M356I|SEC23IP_uc009xzk.1_5'Flank	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	567					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACTCTTTATGAGTCGGAACC	0.363		NaN											0	0	0	0.010729	0	10	82				
DCHS1	8642	broad.mit.edu	37	11	6661191	6661191	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:6661191C>T	uc001mem.1	-	2	2064	c.1654G>A	c.(1654-1656)GAT>AAT	p.D552N		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	552	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCACCATCTGTGGCCACC	0.547		NaN											0	0	0	0.013537	0	13	82				
PPFIBP2	8495	broad.mit.edu	37	11	7642183	7642183	+	Silent	SNP	C	C	T	rs150433585		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:7642183C>T	uc001mfj.3	+	7	1024	c.636C>T	c.(634-636)CTC>CTT	p.L212L	PPFIBP2_uc010rbb.1_Silent_p.L135L|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.L135L|PPFIBP2_uc010rbd.1_Silent_p.L54L|PPFIBP2_uc010rbe.1_Silent_p.L100L|PPFIBP2_uc001mfl.3_Silent_p.L69L	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	212	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGCAAGAGCTCAGGCACCTCA	0.423		NaN											0	0	0	0.00874	0	36	29				
CDCA5	113130	broad.mit.edu	37	11	64846850	64846850	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:64846850T>A	uc001ocp.2	-	5	818	c.653A>T	c.(652-654)AAG>ATG	p.K218M		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	218					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0						TTTCTTCTTCTTACGTTTCTG	0.567		NaN											0	0	0	0.000602	0	4	50				
PRCP	5547	broad.mit.edu	37	11	82549509	82549509	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:82549509C>G	uc001ozs.2	-	8	1307	c.1194G>C	c.(1192-1194)TGG>TGC	p.W398C	PRCP_uc001ozr.2_Missense_Mutation_p.W419C	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	398					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						GTCTCACACCCCACTGTTGAA	0.418		NaN											0	0	0	0.010729	0	11	31				
CASP4	837	broad.mit.edu	37	11	104825572	104825573	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:104825572_104825573CG>AA	uc001pid.1	-	2	236_237	c.163_164CG>TT	c.(163-165)CGG>TTG	p.R55L	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.R55L|CASP4_uc010ruy.1_Missense_Mutation_p.R55L	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	55	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCCATGACCCGAACTTTGTCT	0.386		NaN											0	0	0	0.004672	0	9	87				
C11orf87	399947	broad.mit.edu	37	11	109294575	109294575	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:109294575C>T	uc001pkn.2	+	2	590	c.216C>T	c.(214-216)TTC>TTT	p.F72F	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	72	Helical; (Potential).					integral to membrane				ovary(2)	2						CCCTCATCTTCTGCCTCATCG	0.572		NaN											0	0	0	0.00308	0	8	71				
OR6T1	219874	broad.mit.edu	37	11	123813872	123813872	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:123813872A>G	uc010sab.1	-	1	674	c.674T>C	c.(673-675)GTT>GCT	p.V225A		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCCCTGAGAACAGTGGCAAG	0.527		NaN											0	0	0	0.001168	0	6	47				
OPCML	4978	broad.mit.edu	37	11	132306671	132306671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:132306671G>A	uc001qgs.2	-	5	717	c.667C>T	c.(667-669)CCT>TCT	p.P223S	OPCML_uc001qgu.2_Missense_Mutation_p.P216S|OPCML_uc010sck.1_Missense_Mutation_p.P223S|OPCML_uc001qgt.2_Missense_Mutation_p.P222S|OPCML_uc010scl.1_Missense_Mutation_p.P182S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	223	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATATAGGGAGGATCTGTGGGA	0.393		NaN											0	0	0	0.004672	0	3	20				
KCNA1	3736	broad.mit.edu	37	12	5020706	5020706	+	Silent	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:5020706C>A	uc001qnh.2	+	2	1267	c.162C>A	c.(160-162)ACC>ACA	p.T54T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	54					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTCAAGACCCTGGCGCAGT	0.637		NaN											1	0	2.21704e-12	0.00278	2.55658e-12	23	50				
ABCC9	10060	broad.mit.edu	37	12	22015990	22015990	+	Splice_Site	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:22015990T>A	uc001rfi.1	-	18	2258	c.2238_splice	c.e18-1	p.S746_splice	ABCC9_uc001rfh.2_Splice_Site_p.S746_splice|ABCC9_uc001rfj.1_Splice_Site_p.S710_splice	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTCCTACTGAAAAATGAA	0.318		NaN											0	0	0	0.009096	0	4	44				
RNFT2	84900	broad.mit.edu	37	12	117274059	117274059	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:117274059T>C	uc009zwn.2	+	10	1405	c.1172T>C	c.(1171-1173)TTC>TCC	p.F391S	RNFT2_uc001twb.3_Missense_Mutation_p.F391S|RNFT2_uc001twa.3_Missense_Mutation_p.F301S|RNFT2_uc001twc.3_Missense_Mutation_p.F139S	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	391	Extracellular (Potential).|RING-type.					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGGCCGAGTTCCGAGAGCCT	0.602		NaN											0	0	0	0.004672	0	3	6				
NCOR2	9612	broad.mit.edu	37	12	124816920	124816920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:124816920C>G	uc010tay.1	-	45	7035	c.6879G>C	c.(6877-6879)AAG>AAC	p.K2293N	NCOR2_uc010taz.1_Missense_Mutation_p.K2277N|NCOR2_uc010tax.1_Missense_Mutation_p.K404N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2294					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCTTGCTTCTTGGACTTGA	0.587		NaN									OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	9	111		Valid		
SACS	26278	broad.mit.edu	37	13	23906256	23906256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:23906256C>G	uc001uon.2	-	10	12348	c.11759G>C	c.(11758-11760)AGC>ACC	p.S3920T	SACS_uc001uoo.2_Missense_Mutation_p.S3773T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3920					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTAAGATGCTTGACTTTAC	0.438		NaN											0	0	0	0.004482	0	9	147				
SOHLH2	54937	broad.mit.edu	37	13	36744906	36744906	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:36744906G>C	uc001uvj.2	-	10	1108	c.1019C>G	c.(1018-1020)TCA>TGA	p.S340*	SOHLH2_uc010tei.1_Nonsense_Mutation_p.S417*	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	340					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCATTCTCTGAGGCGGAGCT	0.398		NaN											0	0	0	0.001168	0	5	95				
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:52661488C>T	uc001vge.2	-	15	1518	c.1378G>A	c.(1378-1380)GAA>AAA	p.E460K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393		NaN											0	0	0	0.00278	0	21	74				
TBC1D4	9882	broad.mit.edu	37	13	75936294	75936294	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:75936294G>A	uc001vjl.1	-	2	1295	c.948C>T	c.(946-948)TGC>TGT	p.C316C	TBC1D4_uc010aer.2_Silent_p.C316C|TBC1D4_uc010aes.2_Silent_p.C316C	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	316	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGACACTGCTGCACCGAGACC	0.637		NaN											0	0	0	0.001168	0	5	46				
OR6S1	341799	broad.mit.edu	37	14	21109226	21109226	+	Missense_Mutation	SNP	C	C	G	rs150042729		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:21109226C>G	uc001vxv.1	-	1	625	c.625G>C	c.(625-627)GTC>CTC	p.V209L		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GATACAATGACGAGGGAGGCC	0.572		NaN											0	0	0	0.000602	0	5	98				
EAPP	55837	broad.mit.edu	37	14	34985629	34985629	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985629C>G	uc001wsd.1	-	6	854	c.745G>C	c.(745-747)GAT>CAT	p.D249H		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	249					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTTCCACATCTGTCTCTGCC	0.448		NaN											0	0	0	0.008291	0	9	195				
EAPP	55837	broad.mit.edu	37	14	34985718	34985718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985718C>G	uc001wsd.1	-	6	765	c.656G>C	c.(655-657)AGA>ACA	p.R219T		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	219					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGCTTTATATCTTAGAACCTC	0.388		NaN											0	0	0	0.004482	0	9	143				
PYGO1	26108	broad.mit.edu	37	15	55841124	55841124	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:55841124C>T	uc010bfl.1	-	2	175	c.119G>A	c.(118-120)CGC>CAC	p.R40H	PYGO1_uc002adf.1_Missense_Mutation_p.R40H	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	40	Nuclear localization signal (Potential).				Wnt receptor signaling pathway	nucleus	zinc ion binding	p.R40C(1)		ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTTGCCTTGCGCTTTTTCTT	0.368		NaN											0	0	0	0.001168	0	4	51				
GOLGA6A	342096	broad.mit.edu	37	15	74365122	74365122	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:74365122G>T	uc002axa.1	-	13	1503	c.1462C>A	c.(1462-1464)CTA>ATA	p.L488I		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	488	Potential.										0						TGGGTCTCTAGCTGTTGGTTC	0.612		NaN											1	0	7.48243e-07	0.006214	8.40132e-07	7	55				
ST8SIA2	8128	broad.mit.edu	37	15	92977602	92977602	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:92977602T>A	uc002bra.2	+	3	442	c.287T>A	c.(286-288)ATC>AAC	p.I96N	ST8SIA2_uc002brb.2_Missense_Mutation_p.I75N	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	96	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCTCTGAGGATCAGGTACTGG	0.453		NaN											0	0	0	0.008871	0	18	55				
ZNF598	90850	broad.mit.edu	37	16	2052220	2052220	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:2052220C>T	uc002cof.1	-	7	897	c.882G>A	c.(880-882)TCG>TCA	p.S294S	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	294						intracellular	zinc ion binding			lung(1)|breast(1)	2						CGTTCCGGCGCGAGTGCCGTG	0.692		NaN											0	0	0	0.009096	0	4	15				
KIAA0556	23247	broad.mit.edu	37	16	27761348	27761348	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:27761348G>C	uc002dow.2	+	16	3091	c.3067G>C	c.(3067-3069)GCC>CCC	p.A1023P		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1023										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TATTTTACCAGCCTATGGGAA	0.532		NaN											0	0	0	0.009096	0	4	43				
SPNS1	83985	broad.mit.edu	37	16	28993242	28993242	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:28993242C>T	uc010vdi.1	+	8	970	c.830C>T	c.(829-831)TCC>TTC	p.S277F	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.S204F|SPNS1_uc002dsa.2_Missense_Mutation_p.S277F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Missense_Mutation_p.S209F|LAT_uc010vdj.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	277					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GTCCTGTCTTCCCTGGGCTTC	0.632		NaN									OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	77				
CDH11	1009	broad.mit.edu	37	16	65016031	65016031	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:65016031T>G	uc002eoi.2	-	8	1607	c.1173A>C	c.(1171-1173)GAA>GAC	p.E391D	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E391D|CDH11_uc010vin.1_Missense_Mutation_p.E265D|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	391	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTTCTTGGACTTCGTGGATGT	0.498		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.001984	0	6	90				
DHX33	56919	broad.mit.edu	37	17	5365692	5365692	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:5365692C>G	uc002gca.2	-	3	627	c.625G>C	c.(625-627)GTG>CTG	p.V209L	DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Missense_Mutation_p.V36L|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	209	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GCTTTCACCACTCCAAAGAGC	0.463		NaN											0	0	0	0.009096	0	4	56				
NEURL4	84461	broad.mit.edu	37	17	7226379	7226379	+	Silent	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:7226379C>A	uc002gga.1	-	15	2488	c.2481G>T	c.(2479-2481)GCG>GCT	p.A827A	NEURL4_uc002ggb.1_Silent_p.A827A|NEURL4_uc002ggc.1_Silent_p.A173A	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	827	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTGCCCAGCGCATCCAGGT	0.602		NaN											1	0	8.12818e-05	0.001984	8.81701e-05	7	39				
ATP6V0A1	535	broad.mit.edu	37	17	40642597	40642597	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40642597T>G	uc002hzr.2	+	11	1283	c.1116T>G	c.(1114-1116)TAT>TAG	p.Y372*	ATP6V0A1_uc002hzq.2_Nonsense_Mutation_p.Y372*|ATP6V0A1_uc002hzs.2_Nonsense_Mutation_p.Y379*|ATP6V0A1_uc010wgj.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010wgk.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010cyg.2_Nonsense_Mutation_p.Y18*|ATP6V0A1_uc010wgl.1_Nonsense_Mutation_p.Y231*	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	372	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTTTACCTATGGCTTTCAGA	0.373		NaN											0	0	0	0.001855	0	13	122				
ATP6V0A1	535	broad.mit.edu	37	17	40652912	40652912	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40652912T>C	uc002hzr.2	+	16	2034	c.1867T>C	c.(1867-1869)TCT>CCT	p.S623P	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S623P|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S630P|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S269P|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S482P	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	623	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTACCCAGAGTCTGGTTATTC	0.438		NaN											0	0	0	0.00308	0	7	134				
BRCA1	672	broad.mit.edu	37	17	41244840	41244840	+	Missense_Mutation	SNP	C	C	G	rs80357717		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:41244840C>G	uc002icq.2	-	10	2940	c.2708G>C	c.(2707-2709)TGT>TCT	p.C903S	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.C832S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.C856S|BRCA1_uc002ict.2_Missense_Mutation_p.C903S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.C903S|BRCA1_uc002ide.1_Missense_Mutation_p.C734S|BRCA1_uc010cyy.1_Missense_Mutation_p.C903S|BRCA1_uc010whs.1_Missense_Mutation_p.C903S|BRCA1_uc010cyz.2_Missense_Mutation_p.C856S|BRCA1_uc010cza.2_Missense_Mutation_p.C877S|BRCA1_uc010wht.1_Missense_Mutation_p.C607S	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	903					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTTGTTCACATTCAAAAGT	0.403		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			0	0	0	0.010729	0	12	96				
COIL	8161	broad.mit.edu	37	17	55027860	55027860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:55027860G>A	uc002iuu.2	-	2	774	c.743C>T	c.(742-744)TCG>TTG	p.S248L		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	248	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					TTCAGACTCCGAGGAGGAACT	0.428		NaN											0	0	0	0.00308	0	8	124				
THOC1	9984	broad.mit.edu	37	18	252549	252549	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:252549G>C	uc002kkj.3	-	9	707	c.667C>G	c.(667-669)CCA>GCA	p.P223A	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.P223A	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	223					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CACGTTGTTGGAGCTTCCTCG	0.398		NaN											0	0	0	0.003163	0	12	100				
PIK3C3	5289	broad.mit.edu	37	18	39584404	39584404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:39584404C>T	uc002lap.2	+	10	1127	c.1069C>T	c.(1069-1071)CCG>TCG	p.P357S	PIK3C3_uc010xcl.1_Missense_Mutation_p.P294S	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	357					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						AAAATGGAAGCCGATGGATGT	0.463		NaN								TSP Lung(28;0.18)			0	0	0	0.009096	0	3	42				
MUC16	94025	broad.mit.edu	37	19	9085813	9085813	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:9085813G>C	uc002mkp.2	-	1	6206	c.6002C>G	c.(6001-6003)TCA>TGA	p.S2001*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2001	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATATGGAGTTGACTGTGTCTG	0.468		NaN											0	0	0	0.004482	0	9	70				
ZNF99	7652	broad.mit.edu	37	19	22941848	22941848	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:22941848T>G	uc010xrh.1	-	5	590	c.590A>C	c.(589-591)GAA>GCA	p.E197A		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCCACATTCTTCACATTTATA	0.363		NaN											0	0	0	0.000602	0	5	50				
MAP4K1	11184	broad.mit.edu	37	19	39086328	39086328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39086328C>A	uc002oix.1	-	28	2329	c.2221G>T	c.(2221-2223)GGA>TGA	p.G741*	MAP4K1_uc002oiw.1_Nonsense_Mutation_p.G328*|MAP4K1_uc002oiy.1_Nonsense_Mutation_p.G741*	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	741	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGAAGTCCCCGGACTGGG	0.592		NaN											1	0	1.08611e-07	0.010729	1.24127e-07	11	52				
FBXO27	126433	broad.mit.edu	37	19	39516069	39516069	+	Silent	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39516069C>G	uc002okh.2	-	6	916	c.834G>C	c.(832-834)GTG>GTC	p.V278V		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	278	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GACGGACTCGCACGATCACAC	0.587		NaN											0	0	0	0.001168	0	6	113				
SAMD4B	55095	broad.mit.edu	37	19	39866391	39866391	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39866391G>C	uc002olb.2	+	7	1804	c.769G>C	c.(769-771)GGG>CGG	p.G257R	SAMD4B_uc002ola.2_Missense_Mutation_p.G257R	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	257							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGAGGAGCTTGGGGCCCGGGC	0.647		NaN											0	0	0	0.010818	0	30	151				
PPFIA3	8541	broad.mit.edu	37	19	49641521	49641521	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:49641521T>G	uc002pmr.2	+	16	2245	c.1913T>G	c.(1912-1914)GTG>GGG	p.V638G	PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.V506G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	638	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GAGAGTCGGGTGTCCAGCTCT	0.647		NaN											0	0	0	0.00308	0	4	22				
RHOB	388	broad.mit.edu	37	2	20647511	20647511	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:20647511C>T	uc002rdv.2	+	1	677	c.285C>T	c.(283-285)ATC>ATT	p.I95I		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	95					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		TGGAGAACATCCCCGAGAAGT	0.617		NaN											0	0	0	0.011902	0	43	91				
NRXN1	9378	broad.mit.edu	37	2	50724504	50724504	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:50724504C>G	uc010fbq.2	-	14	4443	c.2966G>C	c.(2965-2967)GGA>GCA	p.G989A	NRXN1_uc002rxb.3_Missense_Mutation_p.G621A|NRXN1_uc002rxe.3_Missense_Mutation_p.G949A|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	138	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAGTCATTTCCATCCCCACT	0.353		NaN											0	0	0	0.000602	0	5	63				
TMEM131	23505	broad.mit.edu	37	2	98504542	98504542	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:98504542T>C	uc002syh.3	-	4	561	c.332A>G	c.(331-333)GAG>GGG	p.E111G	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	111						integral to membrane				ovary(4)|central_nervous_system(2)	6						CATTGGTGGCTCAAATCGTAT	0.333		NaN											0	0	0	0.004672	0	3	32				
RAPGEF4	11069	broad.mit.edu	37	2	173825863	173825863	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:173825863A>G	uc002uhv.3	+	8	792	c.605A>G	c.(604-606)AAG>AGG	p.K202R	RAPGEF4_uc002uhu.2_Missense_Mutation_p.K202R|RAPGEF4_uc002uhw.3_Missense_Mutation_p.K58R|RAPGEF4_uc010zec.1_Missense_Mutation_p.K49R|RAPGEF4_uc010zed.1_Missense_Mutation_p.K31R|RAPGEF4_uc010zee.1_Missense_Mutation_p.K49R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.K31R|RAPGEF4_uc010zef.1_5'UTR|RAPGEF4_uc010zeg.1_Missense_Mutation_p.K29R|RAPGEF4_uc010fqp.1_5'UTR|RAPGEF4_uc010zeh.1_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	202					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTTCAGAGAAGATCCTCAGA	0.413		NaN											0	0	0	0.00308	0	8	80				
FKBP7	51661	broad.mit.edu	37	2	179343067	179343067	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179343067C>T	uc002umk.2	-	1	289	c.160G>A	c.(160-162)GAC>AAC	p.D54N	FKBP7_uc002umm.2_Missense_Mutation_p.D54N|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Missense_Mutation_p.D50N|PLEKHA3_uc002umn.2_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	54	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTAGTAGGTCTCCCTTCTTG	0.473		NaN											0	0	0	0.006214	0	8	78				
TTN	7273	broad.mit.edu	37	2	179462331	179462331	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179462331C>T	uc010zfg.1	-	243	49998	c.49774G>A	c.(49774-49776)GTC>ATC	p.V16592I	uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V10287I|TTN_uc010zfi.1_Missense_Mutation_p.V10220I|TTN_uc010zfj.1_Missense_Mutation_p.V10095I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17519							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATAGACGCCTTGATGG	0.398		NaN											0	0	0	0.004672	0	3	39				
ITGA4	3676	broad.mit.edu	37	2	182387015	182387015	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:182387015A>G	uc002unu.2	+	18	2783	c.2020A>G	c.(2020-2022)ACT>GCT	p.T674A	ITGA4_uc010frj.1_Missense_Mutation_p.T156A|ITGA4_uc002unv.2_5'UTR	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	674	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATATGAAACGACTCTACATGT	0.363		NaN											0	0	0	0.009096	0	4	83				
DNAJB2	3300	broad.mit.edu	37	2	220147644	220147644	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:220147644G>A	uc002vkx.1	+	6	675	c.438G>A	c.(436-438)GGG>GGA	p.G146G	DNAJB2_uc002vkw.1_Silent_p.G146G|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	146					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCCTGGGCACTCCGGTA	0.562		NaN											0	0	0	0.009096	0	4	45				
HTR2B	3357	broad.mit.edu	37	2	231978470	231978470	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:231978470T>G	uc002vro.2	-	3	1031	c.526A>C	c.(526-528)ATT>CTT	p.I176L	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	176	Helical; Name=4; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACCACTGTAATCTTGATGAAT	0.428		NaN											0	0	0	0.004007	0	14	202				
ARL4C	10123	broad.mit.edu	37	2	235405159	235405159	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:235405159G>A	uc002vvn.2	-	1	535	c.72C>T	c.(70-72)GCC>GCT	p.A24A	ARL4C_uc002vvm.3_Silent_p.A24A	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	24	GTP (By similarity).				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TGGTCTTGCCGGCCGAGTCCA	0.597		NaN											0	0	0	0.004672	0	3	34				
BACH1	571	broad.mit.edu	37	21	30699117	30699117	+	Silent	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:30699117T>G	uc002ynj.2	+	3	1087	c.972T>G	c.(970-972)TCT>TCG	p.S324S	BACH1_uc002ynk.2_Silent_p.S324S|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	324						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						ATTCTTTGTCTCTTTTACACA	0.413		NaN											0	0	0	0.008291	0	10	266				
KRTAP24-1	643803	broad.mit.edu	37	21	31655055	31655055	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:31655055C>T	uc002ynv.2	-	1	222	c.196G>A	c.(196-198)GGT>AGT	p.G66S		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	66						keratin filament	structural molecule activity				0						GGTGCTTCACCGTAGGATTCT	0.522		NaN											0	0	0	0.001168	0	6	84				
DRG1	4733	broad.mit.edu	37	22	31816285	31816285	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:31816285G>A	uc003aku.2	+	5	587	c.456G>A	c.(454-456)CTG>CTA	p.L152L		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	152	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						TGGATGTCCTGAAACCTTTGG	0.408		NaN											0	0	0	0.00308	0	8	107				
SGOL1	151648	broad.mit.edu	37	3	20225210	20225210	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:20225210C>G	uc003cbs.2	-	3	416	c.229G>C	c.(229-231)GAA>CAA	p.E77Q	SGOL1_uc003cbr.2_Missense_Mutation_p.E77Q|SGOL1_uc010hfa.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbt.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbu.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbv.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbw.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbx.2_Missense_Mutation_p.E77Q|SGOL1_uc003cby.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbz.2_Missense_Mutation_p.E77Q|SGOL1_uc003cca.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccb.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccc.2_Missense_Mutation_p.E77Q	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	77	Potential.|Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						TCTTGGGCTTCTTTCACTTTG	0.338		NaN											0	0	0	0.001855	0	14	105				
SCN11A	11280	broad.mit.edu	37	3	38945514	38945514	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:38945514G>T	uc011ays.1	-	12	1883	c.1684C>A	c.(1684-1686)CAG>AAG	p.Q562K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	562					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACAGCCACTGGGGGCAACAG	0.502		NaN											1	0	0.00024832	0.009096	0.000264875	4	72				
NKTR	4820	broad.mit.edu	37	3	42680096	42680096	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:42680096C>T	uc003clo.2	+	13	3047	c.2900C>T	c.(2899-2901)TCG>TTG	p.S967L	NKTR_uc003clm.1_Missense_Mutation_p.S714L|NKTR_uc003clp.2_Missense_Mutation_p.S714L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S857L|NKTR_uc003clr.1_Missense_Mutation_p.S714L|NKTR_uc003cls.2_Missense_Mutation_p.S667L	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	967					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGTTCCAATTCGGAAAACAAT	0.408		NaN											0	0	0	0.000602	0	5	70				
ROBO1	6091	broad.mit.edu	37	3	78685192	78685192	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:78685192G>C	uc003dqe.2	-	23	3312	c.3104C>G	c.(3103-3105)TCA>TGA	p.S1035*	ROBO1_uc003dqb.2_Nonsense_Mutation_p.S996*|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Nonsense_Mutation_p.S990*|ROBO1_uc010hoh.2_Nonsense_Mutation_p.S227*|ROBO1_uc011bgl.1_Nonsense_Mutation_p.S607*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1035	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATAAACAGTTGACTCAGGGAG	0.378		NaN											0	0	0	0.009096	0	4	41				
IMPG2	50939	broad.mit.edu	37	3	100948226	100948226	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:100948226C>G	uc003duq.1	-	17	3834	c.3631G>C	c.(3631-3633)GAG>CAG	p.E1211Q	IMPG2_uc011bhe.1_Missense_Mutation_p.E1074Q|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1211	Cytoplasmic (Potential).|Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TTTCCCACCTCTCTGGAAAGC	0.532		NaN											0	0	0	0.004482	0	7	38				
FBXO40	51725	broad.mit.edu	37	3	121341105	121341105	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:121341105G>A	uc003eeg.2	+	3	1039	c.829G>A	c.(829-831)GAC>AAC	p.D277N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	277					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GAAGCAGCAGGACGTTCGTAC	0.483		NaN											0	0	0	0.001984	0	6	42				
TRIM42	287015	broad.mit.edu	37	3	140397214	140397214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:140397214G>A	uc003eto.1	+	1	334	c.143G>A	c.(142-144)CGG>CAG	p.R48Q		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	48	Cys-rich.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						AAAGATGAGCGGAACTGCCAG	0.537		NaN											0	0	0	0.008291	0	10	158				
SMC4	10051	broad.mit.edu	37	3	160146645	160146645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:160146645G>C	uc003fdh.2	+	18	2823	c.2710G>C	c.(2710-2712)GAC>CAC	p.D904H	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D879H|SMC4_uc003fdj.2_Missense_Mutation_p.D904H|SMC4_uc010hwd.2_Missense_Mutation_p.D904H|SMC4_uc003fdl.2_Missense_Mutation_p.D607H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	904	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCCAACAAGACAAACTTGA	0.378		NaN											0	0	0	0.001984	0	6	90				
C4orf35	85438	broad.mit.edu	37	4	71200994	71200994	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:71200994G>C	uc003hff.2	+	1	324	c.238G>C	c.(238-240)GAT>CAT	p.D80H		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	80						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				ATCAGAAGATGATATGGGGAC	0.373		NaN											0	0	0	0.000602	0	5	71				
MMRN1	22915	broad.mit.edu	37	4	90872768	90872768	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:90872768G>T	uc003hst.2	+	7	3202	c.3131G>T	c.(3130-3132)AGC>ATC	p.S1044I	MMRN1_uc010iku.2_Missense_Mutation_p.S347I|MMRN1_uc011cds.1_Missense_Mutation_p.S786I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1044	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTATTCAAGCTGTAGTCGG	0.383		NaN											1	0	3.59834e-05	0.001168	3.93664e-05	5	53				
KIAA1109	84162	broad.mit.edu	37	4	123160717	123160717	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:123160717C>G	uc003ieh.2	+	27	3925	c.3880C>G	c.(3880-3882)CAG>GAG	p.Q1294E	KIAA1109_uc003iei.1_Missense_Mutation_p.Q1047E|KIAA1109_uc010ins.1_Missense_Mutation_p.Q637E|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1294					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCCTAATACTCAGGATAAGTC	0.403		NaN											0	0	0	0.00278	0	22	40				
SEMA5A	9037	broad.mit.edu	37	5	9122934	9122934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:9122934C>T	uc003jek.2	-	14	2327	c.1615G>A	c.(1615-1617)GTG>ATG	p.V539M		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	539	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TGCCCATCCACGGTGAGATTC	0.517		NaN											0	0	0	0.01441	0	66	59				
DNAH5	1767	broad.mit.edu	37	5	13753535	13753535	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13753535T>A	uc003jfd.2	-	63	10721	c.10679A>T	c.(10678-10680)AAC>ATC	p.N3560I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3560					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GAGATTTAGGTTCTTTCCAAA	0.378		NaN							Kartagener_syndrome				0	0	0	0.006214	0	10	241				
DNAH5	1767	broad.mit.edu	37	5	13823473	13823473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13823473C>T	uc003jfd.2	-	40	6628	c.6586G>A	c.(6586-6588)GAG>AAG	p.E2196K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2196					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGTTCATCCTCATCAATCTAA	0.368		NaN							Kartagener_syndrome				0	0	0	0.008291	0	11	156				
CHSY3	337876	broad.mit.edu	37	5	129520760	129520760	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:129520760A>G	uc003kvd.2	+	3	1925	c.1925A>G	c.(1924-1926)GAA>GGA	p.E642G		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAGAACTTTGAAAACATGTGT	0.403		NaN											0	0	0	0.001168	0	4	69				
REEP2	51308	broad.mit.edu	37	5	137780945	137780945	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:137780945G>A	uc003lcz.2	+	6	562	c.440G>A	c.(439-441)CGC>CAC	p.R147H	REEP2_uc003lda.2_Missense_Mutation_p.R149H|REEP2_uc011cyt.1_Missense_Mutation_p.R108H	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	147						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGCTCCGCAGCTTCAGC	0.692		NaN											0	0	0	0.000602	0	5	56				
PCDHGB2	56103	broad.mit.edu	37	5	140741601	140741601	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:140741601C>T	uc003ljs.1	+	1	1899	c.1899C>T	c.(1897-1899)GGC>GGT	p.G633G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.G633G|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCTTGGGCGACAGGGACG	0.687		NaN											0	0	0	0.003163	0	10	16				
FLT4	2324	broad.mit.edu	37	5	180057288	180057288	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:180057288C>T	uc003mma.3	-	4	529	c.450G>A	c.(448-450)AGG>AGA	p.R150R	FLT4_uc003mlz.3_Silent_p.R150R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.R150R|FLT4_uc011dgz.1_Silent_p.R150R|FLT4_uc011dha.1_Missense_Mutation_p.G134E	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	150	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTCCTTCCTGTTGACCA	0.632		NaN							Congenital_Hereditary_Lymphedema				0	0	0	0.004007	0	14	30				
TUBB	203068	broad.mit.edu	37	6	30691914	30691914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:30691914C>T	uc003nrl.2	+	4	1202	c.1075C>T	c.(1075-1077)CGT>TGT	p.R359C	TUBB_uc003nrk.1_Missense_Mutation_p.R359C|TUBB_uc011dmq.1_Missense_Mutation_p.R287C	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	359					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CATCCCACCTCGTGGCCTCAA	0.532		NaN											0	0	0	0.00333	0	20	67				
ASCC3	10973	broad.mit.edu	37	6	100966000	100966000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:100966000C>T	uc003pqk.2	-	38	6123	c.5794G>A	c.(5794-5796)GCA>ACA	p.A1932T		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1932	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCCTGGTTTGCAGCCACGTCC	0.478		NaN											0	0	0	0.000602	0	4	43				
SEC63	11231	broad.mit.edu	37	6	108193031	108193031	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:108193031C>T	uc003psc.3	-	21	2429	c.2160G>A	c.(2158-2160)AAG>AAA	p.K720K	SEC63_uc003psb.3_Silent_p.K547K	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	720	Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTGGCACAGGCTTAGCCTCAT	0.418		NaN											0	0	0	0.004482	0	8	93				
IYD	389434	broad.mit.edu	37	6	150713566	150713566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:150713566C>G	uc003qnu.1	+	3	596	c.456C>G	c.(454-456)ATC>ATG	p.I152M	IYD_uc003qnv.1_Missense_Mutation_p.I152M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.I152M|IYD_uc010kik.1_Missense_Mutation_p.I70M	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	152	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTCGAAAGATCATTGAGGAGG	0.522		NaN											0	0	0	0.00308	0	8	65				
QKI	9444	broad.mit.edu	37	6	163984654	163984654	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:163984654C>T	uc003qui.2	+	6	1388	c.837C>T	c.(835-837)CCC>CCT	p.P279P	QKI_uc003que.2_Silent_p.P279P|QKI_uc003quf.2_Silent_p.P279P|QKI_uc003qug.2_Silent_p.P279P|QKI_uc003quh.2_Silent_p.P271P|QKI_uc003quj.2_Silent_p.P271P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	279	SH3-binding.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTCCAGGGCCCGAAGCTGGTT	0.478		NaN											0	0	0	0.00245	0	15	64				
FAM126A	84668	broad.mit.edu	37	7	23016375	23016375	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:23016375C>A	uc003svm.3	-	6	722	c.467G>T	c.(466-468)GGT>GTT	p.G156V	FAM126A_uc003svn.3_Missense_Mutation_p.G12V|FAM126A_uc011jyr.1_Missense_Mutation_p.G122V	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	156						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						TTTTGACAAACCATGCTGGGA	0.418		NaN											1	0	2.0095e-06	0.001984	2.23666e-06	6	73				
CPA2	1358	broad.mit.edu	37	7	129908841	129908841	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:129908841A>G	uc003vpq.2	+	2	163	c.144A>G	c.(142-144)GAA>GAG	p.E48E	CPA2_uc011kpc.1_Silent_p.E48E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	48					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AGGCTCAAGAACATCTCCAGG	0.373		NaN											0	0	0	0.009096	0	4	62				
SGK223	157285	broad.mit.edu	37	8	8185379	8185379	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:8185379G>A	uc003wsh.3	-	4	2913	c.2913C>T	c.(2911-2913)CTC>CTT	p.L971L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	971							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CGCCCATGAAGAGGTCCTCAC	0.562		NaN											0	0	0	0.00308	0	6	37				
FBXO16	157574	broad.mit.edu	37	8	28304779	28304779	+	Missense_Mutation	SNP	C	C	G	rs149234031	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:28304779C>G	uc003xgu.2	-	7	850	c.752G>C	c.(751-753)AGA>ACA	p.R251T	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R238T|FBXO16_uc003xgw.2_Missense_Mutation_p.R238T	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	251										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTTGGTTTCTTTTTCTTCT	0.353		NaN											0	0	0	0.008361	0	29	79				
ADHFE1	137872	broad.mit.edu	37	8	67357557	67357557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:67357557C>T	uc003xwb.3	+	6	492	c.458C>T	c.(457-459)GCA>GTA	p.A153V	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.A105V|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.A83V|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	153					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AATCTGTATGCATCCAGCCCT	0.488		NaN											0	0	0	0.008291	0	10	142				
VPS13B	157680	broad.mit.edu	37	8	100844794	100844794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:100844794C>G	uc003yiv.2	+	52	9714	c.9603C>G	c.(9601-9603)AGC>AGG	p.S3201R	VPS13B_uc003yiw.2_Missense_Mutation_p.S3176R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3201					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGCTGGAGCCTGCCAGCTA	0.502		NaN											0	0	0	0.001168	0	5	94				
LRRC6	23639	broad.mit.edu	37	8	133584686	133584686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:133584686G>T	uc003ytk.2	-	12	1343	c.1269C>A	c.(1267-1269)CAC>CAA	p.H423Q	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	423						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGGAATGAGTGCTTGCTAG	0.378		NaN											1	0	0.00307968	0.00308	0.00320487	8	208				
ZFAT	57623	broad.mit.edu	37	8	135615035	135615035	+	Silent	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:135615035G>T	uc003yup.2	-	6	1102	c.927C>A	c.(925-927)GCC>GCA	p.A309A	ZFAT_uc003yun.2_Silent_p.A297A|ZFAT_uc003yuo.2_Silent_p.A297A|ZFAT_uc010meh.2_Silent_p.A297A|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A297A|ZFAT_uc010mej.2_Silent_p.A247A|ZFAT_uc003yur.2_Silent_p.A297A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	309	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGCCTTGATGGCACTGGCAT	0.562		NaN											1	0	0.000602214	0.000602	0.000631832	5	49				
MPDZ	8777	broad.mit.edu	37	9	13162702	13162702	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:13162702G>A	uc010mia.1	-	22	3404	c.3347C>T	c.(3346-3348)TCA>TTA	p.S1116L	MPDZ_uc010mhx.2_Missense_Mutation_p.S8L|MPDZ_uc011lmm.1_Missense_Mutation_p.S8L|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.S1116L|MPDZ_uc010mhz.2_Missense_Mutation_p.S1116L|MPDZ_uc011lmn.1_Missense_Mutation_p.S1116L|MPDZ_uc003zlb.3_Missense_Mutation_p.S1116L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1116					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GCCAGTGTATGAAGAAAAAAT	0.378		NaN											0	0	0	0.006122	0	18	6				
RNF20	56254	broad.mit.edu	37	9	104314697	104314697	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:104314697G>A	uc004bbn.2	+	13	1653	c.1563G>A	c.(1561-1563)CAG>CAA	p.Q521Q		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	521	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCCTCCTGCAGTCCCAGTCTA	0.498		NaN											0	0	0	0.006214	0	9	234				
KIAA0368	23392	broad.mit.edu	37	9	114176711	114176711	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:114176711C>T	uc004bfe.1	-	20	2519	c.2519G>A	c.(2518-2520)GGA>GAA	p.G840E	KIAA0368_uc010muc.1_Missense_Mutation_p.G662E	NM_001080398	NP_001073867			KIAA0368 protein												0						ATTCCTACCTCCAACACCTGC	0.413		NaN											0	0	0	0.00308	0	7	64				
NUP188	23511	broad.mit.edu	37	9	131755675	131755675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:131755675G>C	uc004bws.1	+	26	2862	c.2840G>C	c.(2839-2841)GGC>GCC	p.G947A	NUP188_uc004bwu.2_Missense_Mutation_p.G290A	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	947					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GGCAGTGATGGCTCAAAGGTA	0.522		NaN											0	0	0	0.004672	0	3	42				
POMT1	10585	broad.mit.edu	37	9	134381814	134381814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:134381814A>G	uc004cav.2	+	4	456	c.254A>G	c.(253-255)AAT>AGT	p.N85S	POMT1_uc011mci.1_Missense_Mutation_p.N85S|POMT1_uc004cax.2_Missense_Mutation_p.N85S|POMT1_uc011mcj.1_Missense_Mutation_p.I3V|POMT1_uc004cau.2_Missense_Mutation_p.N85S|POMT1_uc004caw.2_Missense_Mutation_p.N31S|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Silent_p.Q49Q	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	85	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTCGATGGCAATTTTTTGTGG	0.264		NaN											0	0	0	0.001855	0	10	238				
TTF1	7270	broad.mit.edu	37	9	135276961	135276961	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:135276961G>A	uc004cbl.2	-	2	1300	c.1248C>T	c.(1246-1248)AGC>AGT	p.S416S	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	416					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAAGAGTGTGCTCTCAGAGT	0.463		NaN											0	0	0	0.001168	0	5	88				
COL5A1	1289	broad.mit.edu	37	9	137619185	137619185	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:137619185A>T	uc004cfe.2	+	5	1110	c.728A>T	c.(727-729)GAC>GTC	p.D243V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	243	Nonhelical region.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACAGCCCTGACTGTGACACC	0.532		NaN											0	0	0	0.001984	0	7	68				
FBXW5	54461	broad.mit.edu	37	9	139837920	139837920	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:139837920C>A	uc004cjx.2	-	3	383	c.232G>T	c.(232-234)GAC>TAC	p.D78Y	FBXW5_uc010nbx.2_5'Flank|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	78							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCACCGTGTCATACAGCCGC	0.657		NaN											1	0	3.07112e-06	0.010729	3.38882e-06	10	16				
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:67940175A>C	uc004dxa.2	+	7	2091	c.1719A>C	c.(1717-1719)CCA>CCC	p.P573P	STARD8_uc004dxb.2_Silent_p.P653P|STARD8_uc004dxc.3_Silent_p.P573P	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						TTGGGGTGCCACCCCTCATCC	0.577		NaN											0	0	0	0.001168	0	4	4				
SLC6A14	11254	broad.mit.edu	37	X	115573895	115573895	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:115573895A>G	uc004eqi.2	+	4	491	c.387A>G	c.(385-387)ACA>ACG	p.T129T	SLC6A14_uc011mtm.1_Intron	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	129	Helical; Name=3; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TTTTTGTGACAATCTATTACA	0.303		NaN											0	0	0	0.001855	0	13	79				
ODZ1	10178	broad.mit.edu	37	X	123556134	123556134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:123556134C>G	uc004euj.2	-	23	4502	c.4438G>C	c.(4438-4440)GAC>CAC	p.D1480H	ODZ1_uc011muj.1_Missense_Mutation_p.D1486H|ODZ1_uc010nqy.2_Missense_Mutation_p.D1487H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1480	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAAAAACAGTCACAGTTTGGA	0.438		NaN											0	0	0	0.004482	0	9	46				
ATAD3A	55210	broad.mit.edu	37	1	1451459	1451459	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:1451459C>G	uc001afz.1	+	2	367	c.273C>G	c.(271-273)TCC>TCG	p.S91S	ATAD3A_uc001aga.1_Silent_p.S91S|ATAD3A_uc001agb.1_Silent_p.S12S	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	91							ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGCAACAGTCCAAGCTCAAAG	0.632		NaN											0	0	0	0.00245	0	13	26				
ARHGEF16	27237	broad.mit.edu	37	1	3386012	3386012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:3386012C>T	uc001akg.3	+	6	1125	c.877C>T	c.(877-879)CTC>TTC	p.L293F	ARHGEF16_uc001aki.2_Missense_Mutation_p.L5F|ARHGEF16_uc001akj.2_Missense_Mutation_p.L5F|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	293	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCGAGATCCTCACGTCGGA	0.627		NaN											0	0	0	0.004656	0	23	41				
AJAP1	55966	broad.mit.edu	37	1	4832502	4832502	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:4832502C>T	uc001alm.1	+	4	1461	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	AJAP1_uc001aln.2_Silent_p.C360C	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	360	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCACGAGTGCGTCAGGGCAT	0.592		NaN											0	0	0	0.006214	0	9	32				
CHD5	26038	broad.mit.edu	37	1	6189100	6189100	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:6189100C>T	uc001amb.1	-	23	3517	c.3417G>A	c.(3415-3417)CAG>CAA	p.Q1139Q	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1139	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCTTGTTCTGGCCGATGC	0.642		NaN											0	0	0	0.008871	0	18	26				
UBE4B	10277	broad.mit.edu	37	1	10211454	10211454	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:10211454A>G	uc001aqs.3	+	21	3474	c.2761A>G	c.(2761-2763)AAC>GAC	p.N921D	UBE4B_uc001aqr.3_Missense_Mutation_p.N792D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N376D|UBE4B_uc001aqt.1_Missense_Mutation_p.N261D	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	921					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GATGTTGTGCAACCAGAACTA	0.458		NaN											0	0	0	0.00245	0	14	99				
MASP2	10747	broad.mit.edu	37	1	11097835	11097835	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:11097835T>G	uc001aru.2	-	7	944	c.923A>C	c.(922-924)AAT>ACT	p.N308T		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	308	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AACGTGGCCATTAGGTGGCGC	0.502		NaN									OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	14	68				
SPEN	23013	broad.mit.edu	37	1	16265833	16265833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265833G>A	uc001axk.1	+	15	11110	c.10906G>A	c.(10906-10908)GAG>AAG	p.E3636K	SPEN_uc010obp.1_Missense_Mutation_p.E3595K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCT	0.582		NaN											0	0	0	0.01441	0	75	156				
SPEN	23013	broad.mit.edu	37	1	16265921	16265921	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265921G>A	uc001axk.1	+	15	11198	c.10994G>A	c.(10993-10995)TGA>TAA	p.*3665*	SPEN_uc010obp.1_Silent_p.*3624*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3665					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCCGTGTGAGCCACTGAG	0.552		NaN											0	0	0	0.01441	0	73	124				
EPHA2	1969	broad.mit.edu	37	1	16464519	16464519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16464519C>T	uc001aya.1	-	5	1278	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T	EPHA2_uc010oca.1_Missense_Mutation_p.A381T	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	381	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGCACACTGGCCTCACACGGC	0.657		NaN											0	0	0	0.001855	0	14	15				
PADI1	29943	broad.mit.edu	37	1	17565174	17565174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:17565174G>A	uc001bah.1	+	13	1614	c.1522G>A	c.(1522-1524)GAG>AAG	p.E508K	PADI1_uc010oco.1_Missense_Mutation_p.E65K|PADI1_uc010ocp.1_Missense_Mutation_p.E65K|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	508					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAGAAAGAAGAGGGTTATGG	0.607		NaN											0	0	0	0.000602	0	4	9				
EIF4G3	8672	broad.mit.edu	37	1	21212781	21212781	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:21212781A>G	uc001bec.2	-	14	2425	c.2169T>C	c.(2167-2169)GAT>GAC	p.D723D	EIF4G3_uc010odi.1_Silent_p.D327D|EIF4G3_uc010odj.1_Silent_p.D722D|EIF4G3_uc009vpz.2_Silent_p.D443D|EIF4G3_uc001bed.2_Silent_p.D723D|EIF4G3_uc001bef.2_Silent_p.D759D|EIF4G3_uc001bee.2_Silent_p.D729D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	723	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCAGGTGTACATCTTCTTTTA	0.423		NaN											0	0	0	0.012213	0	34	139				
HNRNPR	10236	broad.mit.edu	37	1	23637803	23637803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:23637803T>C	uc001bgr.3	-	10	1339	c.1180A>G	c.(1180-1182)ATG>GTG	p.M394V	HNRNPR_uc001bgo.2_Missense_Mutation_p.M4V|HNRNPR_uc001bgp.3_Missense_Mutation_p.M397V|HNRNPR_uc009vqk.2_Missense_Mutation_p.M296V|HNRNPR_uc001bgs.3_Missense_Mutation_p.M293V|HNRNPR_uc010odw.1_Missense_Mutation_p.M356V|HNRNPR_uc010odx.1_Missense_Mutation_p.M234V|HNRNPR_uc009vql.2_Missense_Mutation_p.M255V	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	394	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGCCATTCATTTCATCCATA	0.328		NaN											0	0	0	0.004672	0	3	23				
MYOM3	127294	broad.mit.edu	37	1	24383902	24383902	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:24383902G>A	uc001bin.3	-	37	4429	c.4266C>T	c.(4264-4266)ATC>ATT	p.I1422I	MYOM3_uc001bil.3_Silent_p.I315I|MYOM3_uc001bim.3_Silent_p.I1079I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1422	Ig-like C2-type 4.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAACACACTGATGGTGACCT	0.562		NaN											0	0	0	0.013537	0	13	41				
AHDC1	27245	broad.mit.edu	37	1	27874267	27874267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:27874267G>A	uc009vsy.2	-	6	5329	c.4360C>T	c.(4360-4362)CCC>TCC	p.P1454S	AHDC1_uc009vsz.1_Missense_Mutation_p.P1454S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1454							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGTAGTGGGGCTGGCCCAGC	0.692		NaN											0	0	0	0.001168	0	5	13				
THRAP3	9967	broad.mit.edu	37	1	36752825	36752825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:36752825C>T	uc001cae.3	+	4	1218	c.994C>T	c.(994-996)CAG>TAG	p.Q332*	THRAP3_uc001caf.3_Nonsense_Mutation_p.Q332*|THRAP3_uc001cag.1_Nonsense_Mutation_p.Q332*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	332	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTCATCTCAGAAGGAGGA	0.517		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.00245	0	13	32				
KIAA0754	643314	broad.mit.edu	37	1	39876750	39876750	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:39876750C>T	uc009vvt.1	+	1	1575	c.813C>T	c.(811-813)TTC>TTT	p.F271F	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	135											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGGCTTCAGTGAGAAGC	0.512		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	12				
KIAA0467	23334	broad.mit.edu	37	1	43909302	43909302	+	Missense_Mutation	SNP	G	G	A	rs141085666		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43909302G>A	uc001cjk.1	+	47	6425	c.5963G>A	c.(5962-5964)CGA>CAA	p.R1988Q	KIAA0467_uc001cjl.1_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2887						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGGGAGCCGAGAGGCCCCC	0.602		NaN											0	0	0	0.008871	0	19	68				
KIAA0467	23334	broad.mit.edu	37	1	43913626	43913626	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43913626G>A	uc001cjk.1	+	53	7312	c.6850G>A	c.(6850-6852)GAG>AAG	p.E2284K	KIAA0467_uc001cjl.1_Missense_Mutation_p.E272K	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3183						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAGAGGCTGAGCGGCACGT	0.572		NaN											0	0	0	0.004878	0	38	49				
KDM4A	9682	broad.mit.edu	37	1	44169946	44169946	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:44169946G>A	uc001cjx.2	+	22	3266	c.3100G>A	c.(3100-3102)GAG>AAG	p.E1034K	uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	1034					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						CACAGAGAAAGAGGTTAAGCA	0.443		NaN											0	0	0	0.01441	0	48	93				
PLK3	1263	broad.mit.edu	37	1	45268645	45268645	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:45268645G>A	uc001cmn.2	+	7	868	c.768G>A	c.(766-768)GGG>GGA	p.G256G	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	256	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGCTCTGCGGGAGCCCTCCCT	0.622		NaN											0	0	0	0.010504	0	18	77				
MKNK1	8569	broad.mit.edu	37	1	47024330	47024330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:47024330G>A	uc001cqb.2	-	14	1559	c.1315C>T	c.(1315-1317)CCC>TCC	p.P439S	MKNK1_uc010omd.1_Missense_Mutation_p.P303S|MKNK1_uc001cqc.2_Missense_Mutation_p.P398S|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	439					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					GACTTGCAGGGAGGGGAAAGC	0.622		NaN											0	0	0	0.001984	0	5	37				
PCSK9	255738	broad.mit.edu	37	1	55523773	55523773	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55523773G>A	uc001cyf.1	+	8	1536	c.1245G>A	c.(1243-1245)CTG>CTA	p.L415L	PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	415	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GGCAGAGACTGATCCACTTCT	0.617		NaN											0	0	0	0.005443	0	27	41				
USP24	23358	broad.mit.edu	37	1	55566515	55566515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55566515C>T	uc001cyg.3	-	41	4788	c.4788G>A	c.(4786-4788)TGG>TGA	p.W1596*		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1756					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GAAATACCTTCCAAAAATTCT	0.338		NaN											0	0	0	0.001984	0	7	19				
PRKAA2	5563	broad.mit.edu	37	1	57161760	57161760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57161760G>A	uc001cyk.3	+	6	787	c.716G>A	c.(715-717)CGT>CAT	p.R239H		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TATCTCAATCGTTCTGTCGCC	0.433		NaN											0	0	0	0.01441	0	116	132				
PRKAA2	5563	broad.mit.edu	37	1	57169763	57169763	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57169763C>T	uc001cyk.3	+	7	979	c.908C>T	c.(907-909)ACA>ATA	p.T303I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	303					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						TTTGAATGTACAGAATCAGAA	0.383		NaN											0	0	0	0.011902	0	43	61				
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57399040G>A	uc001cyp.2	-	10	1587	c.1520C>T	c.(1519-1521)CCC>CTC	p.P507L	C8B_uc010oon.1_Missense_Mutation_p.P445L|C8B_uc010ooo.1_Missense_Mutation_p.P455L	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	507	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TCCTTGGCAGGGAGCACAGTG	0.552		NaN											0	0	0	0.00632	0	26	46				
SAMD13	148418	broad.mit.edu	37	1	84791366	84791366	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:84791366A>G	uc001djr.2	+	3	334	c.142A>G	c.(142-144)ATG>GTG	p.M48V	SAMD13_uc010orw.1_Missense_Mutation_p.M34V|SAMD13_uc010orx.1_Missense_Mutation_p.M34V	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13 isoform	54	SAM.										0				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTGGGCCGTGATGGATGTCGT	0.488		NaN											0	0	0	0.004656	0	27	39				
COL24A1	255631	broad.mit.edu	37	1	86591602	86591602	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:86591602A>C	uc001dlj.2	-	3	459	c.417T>G	c.(415-417)CCT>CCG	p.P139P	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P139P	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	139	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTAATTTTTTAGGTAGTAATT	0.353		NaN											0	0	0	0.00333	0	22	18				
CLCA4	22802	broad.mit.edu	37	1	87029431	87029431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:87029431C>T	uc009wcs.2	+	4	580	c.536C>T	c.(535-537)TCA>TTA	p.S179L	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTGCTAAGTCAAAAAAAATC	0.403		NaN											0	0	0	0.000602	0	5	38				
RBMXL1	494115	broad.mit.edu	37	1	89449393	89449393	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89449393C>T	uc009wcx.2	-	3	833	c.117G>A	c.(115-117)TTG>TTA	p.L39L	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Silent_p.L39L	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	39	RRM.						nucleotide binding|RNA binding				0						GGTCTTTTATCAAGAGTACTT	0.423		NaN									OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013726	0	34	124				
GBP7	388646	broad.mit.edu	37	1	89615138	89615138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89615138G>A	uc001dna.2	-	7	1128	c.989C>T	c.(988-990)GCA>GTA	p.A330V	GBP2_uc001dmy.1_RNA	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	330						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTGGTTGGCTGCCCTCTGCAC	0.577		NaN											0	0	0	0.01441	0	48	43				
GBP5	115362	broad.mit.edu	37	1	89734510	89734510	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89734510G>A	uc001dnc.2	-	4	757	c.220C>T	c.(220-222)CAC>TAC	p.H74Y	GBP5_uc001dnd.2_Missense_Mutation_p.H74Y|GBP5_uc001dne.1_Missense_Mutation_p.H74Y	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	74						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCCTTGGTGTGAGACTGCACC	0.488		NaN											0	0	0	0.008871	0	18	46				
CCDC18	343099	broad.mit.edu	37	1	93646363	93646363	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:93646363C>T	uc001dpq.2	+	1	444	c.276C>T	c.(274-276)GTC>GTT	p.V92V	TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	Error:Variant_position_missing_in_Q5T9S5_after_alignment										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGGAAAGGGTCAGAGGCTTCC	0.672		NaN											0	0	0	0.001855	0	12	52				
CCDC76	54482	broad.mit.edu	37	1	100598732	100598732	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:100598732C>G	uc001dsv.2	+	1	27	c.8C>G	c.(7-9)ACC>AGC	p.T3S	SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.T3S	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	3					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ATTATGGCGACCTCCGCGACG	0.552		NaN											0	0	0	0.003954	0	20	30				
SLC25A24	29957	broad.mit.edu	37	1	108742614	108742614	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:108742614C>T	uc001dvn.3	-	1	361	c.147G>A	c.(145-147)AGG>AGA	p.R49R		NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	49	EF-hand 1.|Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCCAGGTTCCTGAGCCCCT	0.721		NaN											0	0	0	0.008291	0	8	25				
AKNAD1	254268	broad.mit.edu	37	1	109380186	109380186	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:109380186A>T	uc001dwa.2	-	7	1791	c.1522T>A	c.(1522-1524)TCA>ACA	p.S508T	AKNAD1_uc010ovb.1_Missense_Mutation_p.S215T|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	508										ovary(3)	3						TTTGAGAGTGAAGAGAAGGTG	0.393		NaN											0	0	0	0.000602	0	4	62				
HBXIP	10542	broad.mit.edu	37	1	110950397	110950397	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:110950397G>A	uc001dzr.2	-	1	150	c.92C>T	c.(91-93)TCC>TTC	p.S31F		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	Error:Variant_position_missing_in_O43504_after_alignment					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCTTTACTGGAAAACATCAC	0.622		NaN											0	0	0	0.008291	0	11	26				
WDR77	79084	broad.mit.edu	37	1	111989760	111989760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:111989760C>T	uc001ebb.2	-	4	489	c.450G>A	c.(448-450)AAG>AAA	p.K150K	WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	150	WD 2.				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding				0		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCCCAAACCTTGATGCTAA	0.398		NaN											0	0	0	0.00874	0	39	43				
C1orf183	55924	broad.mit.edu	37	1	112281828	112281828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:112281828G>A	uc001ebo.1	-	1	195	c.37C>T	c.(37-39)CGT>TGT	p.R13C	C1orf183_uc001ebp.1_Intron|uc001ebq.1_5'Flank	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	13										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		TTGAGGCGACGGAGATAGCAG	0.672		NaN											0	0	0	0.008291	0	10	21				
LRIG2	9860	broad.mit.edu	37	1	113638961	113638961	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:113638961T>C	uc001edf.1	+	8	1263	c.1065T>C	c.(1063-1065)TTT>TTC	p.F355F	LRIG2_uc009wgn.1_Silent_p.F252F	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	355	LRR 12.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGGTGTATTTAGATTTCTTT	0.353		NaN											0	0	0	0.003755	0	32	51				
NHLH2	4808	broad.mit.edu	37	1	116380930	116380930	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:116380930C>G	uc009wgz.2	-	2	569	c.64G>C	c.(64-66)GAG>CAG	p.E22Q	NHLH2_uc001efy.2_Missense_Mutation_p.E22Q	NM_001111061	NP_001104531	Q02577	HEN2_HUMAN	nescient helix loop helix 2	22					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCAGGGACTCCGGATCCGAG	0.657		NaN											0	0	0	0.009096	0	4	11				
CD101	9398	broad.mit.edu	37	1	117556087	117556087	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117556087G>A	uc010oxb.1	+	4	959	c.901G>A	c.(901-903)GAA>AAA	p.E301K	CD101_uc009whd.2_Missense_Mutation_p.E301K|CD101_uc010oxc.1_Missense_Mutation_p.E301K|CD101_uc010oxd.1_Missense_Mutation_p.E239K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	301	Ig-like C2-type 3.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GAAACCCTTAGAACTGGTTTG	0.463		NaN											0	0	0	0.003163	0	15	94				
TTF2	8458	broad.mit.edu	37	1	117629135	117629135	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117629135C>G	uc001egy.2	+	12	2171	c.2151C>G	c.(2149-2151)CTC>CTG	p.L717L		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	717	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGCAAACCTCAATGTGGAGG	0.537		NaN											0	0	0	0.004482	0	8	13				
SF3B4	10262	broad.mit.edu	37	1	149897916	149897916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:149897916G>A	uc001etj.1	-	4	776	c.725C>T	c.(724-726)TCC>TTC	p.S242F	SF3B4_uc001eti.1_Missense_Mutation_p.S6F|SF3B4_uc001etk.1_Missense_Mutation_p.S242F|SF3B4_uc009wll.1_Missense_Mutation_p.S242F	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	242						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGGGAAGGAGCCAGGAGG	0.582		NaN											0	0	0	0.00499	0	15	24				
FAM63A	55793	broad.mit.edu	37	1	150972380	150972380	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:150972380T>C	uc001ewf.2	-	7	2480	c.796A>G	c.(796-798)ATC>GTC	p.I266V	FAM63A_uc001ewc.2_Missense_Mutation_p.I124V|FAM63A_uc010pcm.1_Missense_Mutation_p.I171V|FAM63A_uc001ewd.2_Missense_Mutation_p.I124V|FAM63A_uc001ewe.2_Missense_Mutation_p.I100V|FAM63A_uc010pcn.1_Missense_Mutation_p.I314V|FAM63A_uc001ewg.2_Missense_Mutation_p.I266V	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	266							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGGTGATGATCCTCTCC	0.488		NaN											0	0	0	0.010504	0	20	59				
TDRD10	126668	broad.mit.edu	37	1	154493838	154493838	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154493838A>G	uc009wow.2	+	6	1090	c.252A>G	c.(250-252)ACA>ACG	p.T84T	TDRD10_uc001ffd.2_Silent_p.T84T|TDRD10_uc001ffe.2_Silent_p.T5T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	84	RRM.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAAGTGACACTTGCAATCC	0.498		NaN											0	0	0	0.01441	0	48	127				
FLAD1	80308	broad.mit.edu	37	1	154962650	154962650	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154962650T>A	uc001fgf.1	+	4	1635	c.1281T>A	c.(1279-1281)GTT>GTA	p.V427V	FLAD1_uc001fgd.1_Silent_p.V427V|FLAD1_uc001fge.1_Silent_p.V330V|FLAD1_uc001fgg.1_Silent_p.V330V|FLAD1_uc001fgh.1_Missense_Mutation_p.F111Y	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	427	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTGATGTTCCAAACCCCC	0.468		NaN											0	0	0	0.01441	0	106	209				
KIRREL	55243	broad.mit.edu	37	1	158064160	158064161	+	Missense_Mutation	DNP	CG	CG	AA	rs148421111		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158064160_158064161CG>AA	uc001frn.3	+	14	2181_2182	c.1777_1778CG>AA	c.(1777-1779)CGG>AAG	p.R593K	KIRREL_uc010pib.1_Missense_Mutation_p.R493K|KIRREL_uc009wsq.2_Missense_Mutation_p.R429K|KIRREL_uc001fro.3_Missense_Mutation_p.R407K|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	593	Cytoplasmic (Potential).			DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1).		integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CATCGACACCCGGGAGGAGTAT	0.614		NaN											0	0	0	0.004672	0	4	19				
OR10K1	391109	broad.mit.edu	37	1	158435526	158435526	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158435526A>T	uc010pij.1	+	1	175	c.175A>T	c.(175-177)ATG>TTG	p.M59L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCATACTCCCATGTACTTCTT	0.473		NaN											0	0	0	0.013114	0	43	131				
FCRLB	127943	broad.mit.edu	37	1	161696644	161696644	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:161696644G>A	uc001gbh.2	+	7	960	c.726G>A	c.(724-726)GCG>GCA	p.A242A	FCRLB_uc009wus.2_Silent_p.A242A|FCRLB_uc001gbj.2_Missense_Mutation_p.R194Q|FCRLB_uc001gbk.2_Missense_Mutation_p.G208S|FCRLB_uc001gbl.2_Missense_Mutation_p.R187Q|FCRLB_uc001gbm.2_Missense_Mutation_p.G201S|FCRLB_uc001gbi.2_Silent_p.A242A|FCRLB_uc001gbn.3_Missense_Mutation_p.G245S	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	242						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGCCGCGCGGTGCGCCGCT	0.706		NaN											0	0	0	0.000602	0	4	5				
ILDR2	387597	broad.mit.edu	37	1	166926077	166926077	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:166926077T>G	uc001gdx.1	-	3	448	c.392A>C	c.(391-393)CAA>CCA	p.Q131P		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	131	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						CTTTCCAATTTGAAGATCTGC	0.403		NaN											0	0	0	0.004482	0	8	44				
DNM3	26052	broad.mit.edu	37	1	172357752	172357752	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:172357752A>G	uc001gie.2	+	20	2501	c.2325A>G	c.(2323-2325)ACA>ACG	p.T775T	DNM3_uc001gif.2_Silent_p.T771T|DNM3_uc001gih.1_Silent_p.T131T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	781					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GGAGGCCAACACTAAGTGCTC	0.562		NaN											0	0	0	0.00499	0	15	45				
TDRD5	163589	broad.mit.edu	37	1	179621324	179621324	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:179621324C>T	uc001gnf.1	+	13	2402	c.2152C>T	c.(2152-2154)CGT>TGT	p.R718C	TDRD5_uc010pnp.1_Missense_Mutation_p.R718C|TDRD5_uc001gnh.1_Missense_Mutation_p.R273C	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	718					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GAGTGAGTTACGTATCTTGGT	0.289		NaN											0	0	0	0.013537	0	12	25				
RNF2	6045	broad.mit.edu	37	1	185056735	185056735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185056735G>A	uc001grc.1	+	2	283	c.50G>A	c.(49-51)TGG>TAG	p.W17*	RNF2_uc001grd.1_Nonsense_Mutation_p.W17*	NM_007212	NP_009143	Q99496	RING2_HUMAN	ring finger protein 2	17	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGCAAAACATGGGAACTCAGT	0.388		NaN											0	0	0	0.010818	0	26	66				
IVNS1ABP	10625	broad.mit.edu	37	1	185276256	185276256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185276256C>T	uc001grl.2	-	7	1170	c.547G>A	c.(547-549)GAA>AAA	p.E183K	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	183	Sufficient for AHR interaction and signaling.|BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						ACATTATCTTCAAGCATTACC	0.413		NaN											0	0	0	0.00245	0	14	29				
HMCN1	83872	broad.mit.edu	37	1	185704134	185704134	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185704134A>G	uc001grq.1	+	1	452	c.223A>G	c.(223-225)AAA>GAA	p.K75E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	75	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAAAGACCTAAAAGACCTCT	0.368		NaN											0	0	0	0.00632	0	26	44				
KCNT2	343450	broad.mit.edu	37	1	196342326	196342326	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:196342326A>G	uc001gtd.1	-	14	1407	c.1347T>C	c.(1345-1347)TGT>TGC	p.C449C	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.C449C|KCNT2_uc001gtf.1_Silent_p.C449C|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.C449C|KCNT2_uc009wyv.1_Silent_p.C424C	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	449	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CTGGGCATATACAGTTTAAAG	0.294		NaN											0	0	0	0.003954	0	22	45				
ASPM	259266	broad.mit.edu	37	1	197111797	197111797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:197111797C>G	uc001gtu.2	-	3	1842	c.1585G>C	c.(1585-1587)GAA>CAA	p.E529Q	ASPM_uc001gtv.2_Missense_Mutation_p.E529Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	529					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATTACTTTTTCATGTTCACCC	0.313		NaN											0	0	0	0.009535	0	31	95				
NR5A2	2494	broad.mit.edu	37	1	200014630	200014630	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:200014630C>T	uc001gvb.2	+	4	587	c.381C>T	c.(379-381)AAC>AAT	p.N127N	NR5A2_uc001gvc.2_Silent_p.N81N|NR5A2_uc009wzh.2_Silent_p.N87N|NR5A2_uc010pph.1_Silent_p.N55N	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	127	Nuclear receptor.|NR C4-type.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AAAACCAGAACTGCCAAATTG	0.328		NaN											0	0	0	0.001855	0	14	29				
PPP1R15B	84919	broad.mit.edu	37	1	204379892	204379892	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:204379892G>A	uc001hav.3	-	1	1053	c.648C>T	c.(646-648)TTC>TTT	p.F216F		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	216					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATACCACACTGAAATTGTCTA	0.498		NaN											0	0	0	0.00874	0	42	93				
DSTYK	25778	broad.mit.edu	37	1	205180623	205180623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205180623G>A	uc001hbw.2	-	1	105	c.41C>T	c.(40-42)TCG>TTG	p.S14L	DSTYK_uc001hbx.2_Missense_Mutation_p.S14L	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	14						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						GCCGGGACCCGAGACGGGCTC	0.756		NaN											0	0	0	0.009096	0	4	5				
SLC45A3	85414	broad.mit.edu	37	1	205633626	205633626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205633626C>T	uc001hda.1	-	2	498	c.159G>A	c.(157-159)ATG>ATA	p.M53I	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	53	Helical; Name=2; (Potential).				transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCACCATGGTCATGAACTTCT	0.572		NaN	T	ETV1|ETV5|ELK4|ERG	prostate 								0	0	0	0.01441	0	71	166				
PLXNA2	5362	broad.mit.edu	37	1	208390236	208390236	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:208390236C>T	uc001hgz.2	-	2	1790	c.1032G>A	c.(1030-1032)AAG>AAA	p.K344K	PLXNA2_uc001hha.3_Silent_p.K398K	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	344	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGATACTGCTTCTGCCCTT	0.592		NaN											0	0	0	0.008871	0	20	30				
RPS6KC1	26750	broad.mit.edu	37	1	213415584	213415584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:213415584G>A	uc010ptr.1	+	11	2924	c.2765G>A	c.(2764-2766)AGA>AAA	p.R922K	RPS6KC1_uc001hkd.2_Missense_Mutation_p.R910K|RPS6KC1_uc010pts.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R741K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.R457K|RPS6KC1_uc001hke.2_Missense_Mutation_p.R741K	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	922	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTTTACATAGAGAGGGAATT	0.418		NaN											0	0	0	0.00623	0	35	69				
USH2A	7399	broad.mit.edu	37	1	216591900	216591900	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:216591900G>A	uc001hku.1	-	3	994	c.607C>T	c.(607-609)CTG>TTG	p.L203L	USH2A_uc001hkv.2_Silent_p.L203L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	203	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCTCCCCAGTGTCATTACT	0.338		NaN								HNSCC(13;0.011)			0	0	0	0.004656	0	24	66				
TP53BP2	7159	broad.mit.edu	37	1	223986194	223986194	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:223986194C>T	uc010pvb.1	-	12	1963	c.1671G>A	c.(1669-1671)CCG>CCA	p.P557P	TP53BP2_uc001hod.2_Silent_p.P428P|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Silent_p.P196P	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	551					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACTCTCGGCTGCTGCC	0.542		NaN											0	0	0	0.01441	0	47	116				
ACBD3	64746	broad.mit.edu	37	1	226340098	226340098	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:226340098G>A	uc001hpy.2	-	7	1360	c.1313C>T	c.(1312-1314)TCT>TTT	p.S438F		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	438	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AGTGTTTGGAGAGTCTGTCCA	0.478		NaN											0	0	0	0.01441	0	67	110				
OBSCN	84033	broad.mit.edu	37	1	228467915	228467915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:228467915G>A	uc009xez.1	+	29	7743	c.7699G>A	c.(7699-7701)GCA>ACA	p.A2567T	OBSCN_uc001hsn.2_Missense_Mutation_p.A2567T|OBSCN_uc001hsp.1_Missense_Mutation_p.A266T|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2567	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTACAGGATGCAGAGGCCAC	0.632		NaN											0	0	0	0.013537	0	11	60				
NUP133	55746	broad.mit.edu	37	1	229625722	229625722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:229625722G>A	uc001htn.2	-	9	1266	c.1174C>T	c.(1174-1176)CAA>TAA	p.Q392*		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGATTATATTGAGTGACTTCT	0.318		NaN											0	0	0	0.010504	0	16	23				
AGT	183	broad.mit.edu	37	1	230839024	230839024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:230839024C>T	uc001hty.3	-	5	1829	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K	AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Missense_Mutation_p.E413K	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	441					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGGTAGACTCTGTGGGCTCT	0.527		NaN											0	0	0	0.013726	0	32	71				
TTC13	79573	broad.mit.edu	37	1	231048454	231048454	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231048454G>A	uc001huf.3	-	19	2175	c.2144C>T	c.(2143-2145)ACA>ATA	p.T715I	TTC13_uc009xfi.2_Missense_Mutation_p.T662I|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.T661I|TTC13_uc009xfk.1_Missense_Mutation_p.T604I	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	715							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATAATTGTGTCCTTTCTTC	0.318		NaN											0	0	0	0.008871	0	19	125				
TTC13	79573	broad.mit.edu	37	1	231069546	231069546	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231069546T>G	uc001huf.3	-	9	993	c.962A>C	c.(961-963)AAA>ACA	p.K321T	TTC13_uc009xfi.2_Missense_Mutation_p.K268T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.K268T|TTC13_uc009xfk.1_Missense_Mutation_p.K211T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	321	TPR 5.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCCTAGACTTTTATATGCATC	0.343		NaN											0	0	0	0.013726	0	27	72				
SIPA1L2	57568	broad.mit.edu	37	1	232551310	232551310	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:232551310C>T	uc001hvg.2	-	17	4850	c.4692G>A	c.(4690-4692)CTG>CTA	p.L1564L	SIPA1L2_uc001hvf.2_Silent_p.L638L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1564					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGGGGCATCAGGCCAGGAT	0.537		NaN											0	0	0	0.01441	0	41	92				
ARID4B	51742	broad.mit.edu	37	1	235338568	235338568	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338568C>T	uc001hwq.2	-	22	4093	c.3595G>A	c.(3595-3597)GAT>AAT	p.D1199N	ARID4B_uc001hwr.2_Missense_Mutation_p.D1113N|ARID4B_uc001hwp.2_RNA	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGATCCTTATCACCATTCTTT	0.408		NaN											0	0	0	0.005443	0	27	64				
ARID4B	51742	broad.mit.edu	37	1	235338665	235338665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338665C>G	uc001hwq.2	-	22	3996	c.3498G>C	c.(3496-3498)AAG>AAC	p.K1166N	ARID4B_uc001hwr.2_Missense_Mutation_p.K1080N|ARID4B_uc001hwp.2_RNA	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGGCTGACTCTTAGTTATAC	0.358		NaN											0	0	0	0.005443	0	26	57				
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:248367166G>T	uc010pzg.1	+	1	797	c.797G>T	c.(796-798)CGC>CTC	p.R266L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502		NaN											1	0	3.74213e-36	0.01441	4.06774e-36	58	110				
DIP2C	22982	broad.mit.edu	37	10	486827	486827	+	Silent	SNP	G	G	A	rs139321678	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:486827G>A	uc001ifp.2	-	4	468	c.378C>T	c.(376-378)GAC>GAT	p.D126D	DIP2C_uc009xhk.1_Missense_Mutation_p.T128M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	126						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607		NaN											0	0	0	0.006122	0	15	45				
IDI2	91734	broad.mit.edu	37	10	1066834	1066834	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:1066834T>C	uc001ifv.1	-	4	304	c.239A>G	c.(238-240)TAT>TGT	p.Y80C	C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	80	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTCGGTAAAATACCCTGGAAA	0.443		NaN											0	0	0	0.008871	0	16	27				
FRMD4A	55691	broad.mit.edu	37	10	13782239	13782239	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:13782239G>A	uc001ims.2	-	11	979	c.627C>T	c.(625-627)ATC>ATT	p.I209I	FRMD4A_uc009xjf.1_Silent_p.I209I|FRMD4A_uc001imt.1_Silent_p.I242I|FRMD4A_uc001imu.1_Silent_p.I225I	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	209	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GAGACTCCACGATGCTCATGT	0.423		NaN											0	0	0	0.00499	0	17	56				
PLXDC2	84898	broad.mit.edu	37	10	20453444	20453444	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:20453444A>T	uc001iqg.1	+	7	1468	c.831A>T	c.(829-831)AAA>AAT	p.K277N	PLXDC2_uc001iqh.1_Missense_Mutation_p.K228N|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	277	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						ATCCAGTGAAAGTCGGACTGT	0.443		NaN											0	0	0	0.009096	0	4	43				
ABI1	10006	broad.mit.edu	37	10	27149698	27149698	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27149698T>C	uc001isx.2	-	1	262	c.95A>G	c.(94-96)TAC>TGC	p.Y32C	ABI1_uc001ite.2_Missense_Mutation_p.Y32C|ABI1_uc010qdh.1_Missense_Mutation_p.Y32C|ABI1_uc010qdi.1_Missense_Mutation_p.Y32C|ABI1_uc001isy.2_Missense_Mutation_p.Y32C|ABI1_uc001ita.2_Missense_Mutation_p.Y32C|ABI1_uc001isz.2_Missense_Mutation_p.Y32C|ABI1_uc001itb.2_Missense_Mutation_p.Y32C|ABI1_uc001itc.2_Missense_Mutation_p.Y32C|ABI1_uc010qdj.1_Missense_Mutation_p.Y32C|ABI1_uc001itd.2_Missense_Mutation_p.Y32C|ABI1_uc010qdk.1_Missense_Mutation_p.Y32C	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	32	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						GTTTTCACAGTAGTCTGCCAC	0.627		NaN											0	0	0	0.003954	0	24	62				
RAB18	22931	broad.mit.edu	37	10	27793340	27793340	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27793340C>T	uc001itv.2	+	1	92	c.42C>T	c.(40-42)ATC>ATT	p.I14I	RAB18_uc001itw.2_Silent_p.I14I|RAB18_uc010qdq.1_Silent_p.I14I|RAB18_uc010qdr.1_Silent_p.I14I	NM_021252	NP_067075	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	14					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding				0						TCCTCATCATCGGCGAGAGTG	0.682		NaN											0	0	0	0.00308	0	5	10				
RBP3	5949	broad.mit.edu	37	10	48389779	48389779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389779C>T	uc001jez.2	-	1	1213	c.1099G>A	c.(1099-1101)GAT>AAT	p.D367N		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	367	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GTGACCAGATCTTCCTCGGAG	0.632		NaN											0	0	0	0.001855	0	14	33				
RBP3	5949	broad.mit.edu	37	10	48389782	48389782	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389782C>T	uc001jez.2	-	1	1210	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	366	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACCAGATCTTCCTCGGAGACC	0.627		NaN											0	0	0	0.00245	0	15	31				
RHOBTB1	9886	broad.mit.edu	37	10	62631954	62631954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:62631954G>A	uc001jli.2	-	11	2348	c.1910C>T	c.(1909-1911)TCA>TTA	p.S637L	RHOBTB1_uc001jlh.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlj.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlk.2_Missense_Mutation_p.S637L|RHOBTB1_uc009xpe.1_Missense_Mutation_p.S575L|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.S387L	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TGCAGATTTTGATTTGATTTC	0.493		NaN											0	0	0	0.014323	0	23	72				
VPS26A	9559	broad.mit.edu	37	10	70930917	70930917	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70930917A>G	uc001jpb.2	+	9	1002	c.876A>G	c.(874-876)ATA>ATG	p.I292M	VPS26A_uc001jpc.2_Missense_Mutation_p.N245D|VPS26A_uc009xqa.2_Missense_Mutation_p.I285M|VPS26A_uc001jpd.2_Missense_Mutation_p.I181M	NM_004896	NP_004887	O75436	VP26A_HUMAN	vacuolar protein sorting 26 A isoform 1	292					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity				0						ACTAGGAGATAATTTTATGGA	0.338		NaN											0	0	0	0.014323	0	23	64				
SUPV3L1	6832	broad.mit.edu	37	10	70940254	70940254	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70940254G>A	uc001jpe.1	+	1	262	c.207G>A	c.(205-207)GTG>GTA	p.V69V	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	69					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						CCCTGACTGTGAAACCTCAGG	0.647		NaN											0	0	0	0.00278	0	21	95				
SUPV3L1	6832	broad.mit.edu	37	10	70967593	70967593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70967593G>T	uc001jpe.1	+	14	1876	c.1821G>T	c.(1819-1821)TGG>TGT	p.W607C	SUPV3L1_uc010qjd.1_Missense_Mutation_p.W476C	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	607					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						CCTTTGCATGGTTACGCCGAT	0.443		NaN											1	0	0.00829132	0.008291	0.00853897	9	40				
FUT11	170384	broad.mit.edu	37	10	75533107	75533107	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75533107A>T	uc001jva.2	+	2	911	c.868A>T	c.(868-870)ACA>TCA	p.T290S	FUT11_uc001juy.1_Nonstop_Mutation_p.*288C|FUT11_uc001juz.1_Missense_Mutation_p.T290S	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	290	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					CGACTACATGACAGAAAAACT	0.567		NaN											0	0	0	0.004656	0	25	48				
KIAA0913	23053	broad.mit.edu	37	10	75556602	75556602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75556602C>T	uc009xrl.2	+	16	3121	c.3089C>T	c.(3088-3090)TCT>TTT	p.S1030F	KIAA0913_uc001jve.2_Missense_Mutation_p.S1035F|KIAA0913_uc001jvf.2_Missense_Mutation_p.S1030F|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S465F|KIAA0913_uc010qkr.1_Missense_Mutation_p.S453F|KIAA0913_uc001jvj.2_Missense_Mutation_p.S453F|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1030							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					TTCTACTCATCTAGCCGCCCA	0.577		NaN											0	0	0	0.00245	0	14	72				
TNKS2	80351	broad.mit.edu	37	10	93605573	93605573	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93605573C>G	uc001khp.2	+	18	2531	c.2234C>G	c.(2233-2235)GCT>GGT	p.A745G		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	745	ANK 15.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				GACAAATGGGCTTTCACACCT	0.433		NaN											0	0	0	0.001168	0	6	46				
BTAF1	9044	broad.mit.edu	37	10	93768614	93768614	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93768614A>G	uc001khr.2	+	27	3940	c.3842A>G	c.(3841-3843)AAT>AGT	p.N1281S		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1281	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				GCATTTCTTAATAAGTATAAA	0.294		NaN											0	0	0	0.001855	0	9	42				
EXOC6	54536	broad.mit.edu	37	10	94757304	94757304	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:94757304A>G	uc001kig.2	+	19	2093	c.2027A>G	c.(2026-2028)GAC>GGC	p.D676G	EXOC6_uc010qnr.1_Missense_Mutation_p.D692G|EXOC6_uc001kie.2_Missense_Mutation_p.D671G|EXOC6_uc009xub.2_Missense_Mutation_p.D675G|EXOC6_uc009xuc.2_Missense_Mutation_p.D573G|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.D250G	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	676					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				ATGCTACTGGACAGTGAGTTA	0.353		NaN											0	0	0	0.001984	0	7	41				
MYOF	26509	broad.mit.edu	37	10	95113570	95113570	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:95113570G>A	uc001kin.2	-	32	3602	c.3479C>T	c.(3478-3480)TCA>TTA	p.S1160L	MYOF_uc001kio.2_Missense_Mutation_p.S1147L|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1160	Cytoplasmic (Potential).|C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TCCTTTACCTGAAAAGCTATC	0.353		NaN											0	0	0	0.005443	0	24	77				
DNTT	1791	broad.mit.edu	37	10	98079103	98079103	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:98079103T>C	uc001kmf.2	+	3	633	c.463T>C	c.(463-465)TGT>CGT	p.C155R	DNTT_uc001kmg.2_Missense_Mutation_p.C155R	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	155	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCAGTATGCGTGTCAGAGAAG	0.458		NaN											0	0	0	0.003271	0	31	120				
SEC31B	25956	broad.mit.edu	37	10	102256971	102256971	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:102256971T>C	uc001krc.1	-	17	2159	c.2057A>G	c.(2056-2058)TAT>TGT	p.Y686C	SEC31B_uc010qpo.1_Missense_Mutation_p.Y685C|SEC31B_uc001krd.1_Missense_Mutation_p.Y223C|SEC31B_uc001krf.1_Missense_Mutation_p.Y223C|SEC31B_uc001kre.1_Missense_Mutation_p.Y223C|SEC31B_uc001krg.1_Missense_Mutation_p.Y255C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	686	WD 7.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGCACACATAACAGAGTCT	0.567		NaN											0	0	0	0.007413	0	14	53				
LDB1	8861	broad.mit.edu	37	10	103868023	103868023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:103868023C>T	uc009xwz.2	-	11	1406	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	LDB1_uc001kuk.3_Missense_Mutation_p.E319K	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	355	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGAGCCTCTCGTCCTCGTCC	0.622		NaN											0	0	0	0.001855	0	12	45				
COL17A1	1308	broad.mit.edu	37	10	105802183	105802183	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:105802183T>C	uc001kxr.2	-	36	2715	c.2546A>G	c.(2545-2547)CAT>CGT	p.H849R		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	849	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACCTTGATGTCCTGGGAG	0.537		NaN											0	0	0	0.006214	0	8	40				
PDCD4	27250	broad.mit.edu	37	10	112641080	112641080	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112641080A>G	uc001kzh.2	+	3	376	c.133A>G	c.(133-135)ATT>GTT	p.I45V	PDCD4_uc001kzg.2_Missense_Mutation_p.I34V|PDCD4_uc010qre.1_Missense_Mutation_p.I31V	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	45					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAAATTGGATTTCAGCATC	0.413		NaN											0	0	0	0.00278	0	23	88				
SHOC2	8036	broad.mit.edu	37	10	112771502	112771502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112771502C>G	uc001kzl.3	+	9	2024	c.1675C>G	c.(1675-1677)CAG>GAG	p.Q559E	SHOC2_uc009xxx.2_Missense_Mutation_p.Q559E|SHOC2_uc010qrg.1_Missense_Mutation_p.Q198E|SHOC2_uc001kzn.2_Missense_Mutation_p.Q513E	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	559	LRR 20.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCTTCCACCTCAGATTGTTGC	0.488		NaN											0	0	0	0.005524	0	36	58				
RAB11FIP2	22841	broad.mit.edu	37	10	119799820	119799820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:119799820C>T	uc001ldj.1	-	2	1050	c.610G>A	c.(610-612)GAA>AAA	p.E204K	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.E204K	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	204					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCTGTATTTCACCACTTGAA	0.413		NaN											0	0	0	0.003271	0	35	52				
EIF3A	8661	broad.mit.edu	37	10	120802040	120802040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:120802040G>A	uc001ldu.2	-	19	3138	c.2992C>T	c.(2992-2994)CCC>TCC	p.P998S	EIF3A_uc010qsu.1_Missense_Mutation_p.P964S|EIF3A_uc009xzg.1_Missense_Mutation_p.P37S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	998	Asp-rich.|8.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTCGTCTGGGAGGCCTGTCA	0.572		NaN											0	0	0	0.01441	0	61	94				
SEC23IP	11196	broad.mit.edu	37	10	121652347	121652347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121652347C>T	uc001leu.1	+	1	125	c.53C>T	c.(52-54)TCG>TTG	p.S18L	SEC23IP_uc010qtc.1_5'UTR	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	18	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTCCTCATCGGGCACTAAC	0.627		NaN											0	0	0	0.00308	0	8	25				
SEC23IP	11196	broad.mit.edu	37	10	121671610	121671610	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121671610G>A	uc001leu.1	+	6	1318	c.1246G>A	c.(1246-1248)GAT>AAT	p.D416N	SEC23IP_uc010qtc.1_Missense_Mutation_p.D205N	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	416					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACCACGCAAGATGGACAGAC	0.433		NaN											0	0	0	0.00874	0	42	63				
FGFR2	2263	broad.mit.edu	37	10	123258016	123258016	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123258016T>C	uc010qtk.1	-	13	2312	c.1665A>G	c.(1663-1665)ACA>ACG	p.T555T	FGFR2_uc010qtg.1_Silent_p.T443T|FGFR2_uc010qth.1_Silent_p.T440T|FGFR2_uc010qti.1_Silent_p.T466T|FGFR2_uc010qtj.1_Silent_p.T556T|FGFR2_uc010qtl.1_Silent_p.T439T|FGFR2_uc010qtm.1_Silent_p.T438T|FGFR2_uc001lfl.3_Silent_p.T556T|FGFR2_uc001lfm.2_Silent_p.T467T|FGFR2_uc001lfg.3_Silent_p.T163T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	555	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CACCATCCTGTGTGCAGGCTC	0.438		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.000602	0	5	43				
TACC2	10579	broad.mit.edu	37	10	123845111	123845111	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123845111G>A	uc001lfv.2	+	4	3456	c.3096G>A	c.(3094-3096)AAG>AAA	p.K1032K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.K1032K|TACC2_uc010qtv.1_Silent_p.K1032K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1032						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTTGAGTAAGAGGGAGATGG	0.582		NaN											0	0	0	0.001984	0	7	47				
FAM53B	9679	broad.mit.edu	37	10	126370704	126370704	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:126370704G>A	uc001lhv.1	-	4	901	c.378C>T	c.(376-378)TGC>TGT	p.C126C	FAM53B_uc001lhu.1_Silent_p.C126C|FAM53B_uc001lhw.2_Silent_p.C126C	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	126										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATGATGTCCGGCAACTGGACA	0.602		NaN											0	0	0	0.004672	0	3	17				
JAKMIP3	282973	broad.mit.edu	37	10	133949530	133949530	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:133949530C>T	uc001lkx.3	+	5	1066	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCATGCTTTACGCCGAATGGA	0.527		NaN											0	0	0	0.003163	0	15	16				
ATHL1	80162	broad.mit.edu	37	11	294604	294604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:294604C>T	uc010qvu.1	+	14	2184	c.2069C>T	c.(2068-2070)CCC>CTC	p.P690L	ATHL1_uc001lor.3_Missense_Mutation_p.P442L|ATHL1_uc001lou.3_Missense_Mutation_p.P265L|ATHL1_uc001lov.3_Missense_Mutation_p.P151L	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	690					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAATGTCACCCCCGAAGCTG	0.642		NaN											0	0	0	0.003954	0	27	124				
HRAS	3265	broad.mit.edu	37	11	534226	534226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:534226C>T	uc001lpv.2	-	2	285	c.97G>A	c.(97-99)GAC>AAC	p.D33N	HRAS_uc010qvw.1_Missense_Mutation_p.D33N|HRAS_uc010qvx.1_Missense_Mutation_p.D33N|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	33	Effector region.				activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	ATAGTGGGGTCGTATTCGTCC	0.637		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			0	0	0	0.013537	0	13	25		Valid		
TMEM80	283232	broad.mit.edu	37	11	703012	703012	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:703012C>T	uc001lqr.2	+	5	506	c.369C>T	c.(367-369)ACC>ACT	p.T123T	TMEM80_uc001lqs.2_Silent_p.T115T|TMEM80_uc010qwi.1_Silent_p.T123T	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	transmembrane protein 80 isoform 2	123						integral to membrane					0		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTGGCACCGCCCTCCTCT	0.692		NaN											0	0	0	0.013537	0	12	46				
TALDO1	6888	broad.mit.edu	37	11	763392	763392	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:763392C>T	uc001lqz.2	+	5	560	c.510C>T	c.(508-510)TTC>TTT	p.F170F	TALDO1_uc001lra.2_Silent_p.F170F	NM_006755	NP_006746	P37837	TALDO_HUMAN	transaldolase 1	170					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTACTCTTCTCCTTCGCCC	0.453		NaN											0	0	0	0.012213	0	31	55				
DUSP8	1850	broad.mit.edu	37	11	1586951	1586951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:1586951C>T	uc001lts.2	-	2	234	c.106G>A	c.(106-108)GTG>ATG	p.V36M		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	36	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TTGTACTCCACGAAGGAGCGG	0.657		NaN											0	0	0	0.004007	0	15	102				
MRGPRE	116534	broad.mit.edu	37	11	3249906	3249906	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:3249906T>C	uc001lxq.3	-	2	431	c.121A>G	c.(121-123)AAT>GAT	p.N41D		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	41	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCCCCATTCCCCAGCAGC	0.642		NaN											0	0	0	0.008361	0	28	46				
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:9161320G>A	uc001mhl.2	-	23	4017	c.3762C>T	c.(3760-3762)ATC>ATT	p.I1254I	DENND5A_uc001mhk.2_Silent_p.I597I|DENND5A_uc010rbw.1_3'UTR	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1254	RUN 2.									liver(1)	1						TATGGTCTTTGATCAGTGCCA	0.527		NaN											0	0	0	0.004482	0	9	25				
ADM	133	broad.mit.edu	37	11	10327902	10327902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:10327902G>A	uc001mik.1	+	3	889	c.272G>A	c.(271-273)CGA>CAA	p.R91Q	ADM_uc001mil.1_Missense_Mutation_p.R91Q|ADM_uc001mim.1_Missense_Mutation_p.R44Q	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor	91					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCCCGCATCCGAGTCAAGCGC	0.647		NaN											0	0	0	0.012319	0	20	23				
USP47	55031	broad.mit.edu	37	11	11971470	11971470	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:11971470A>G	uc001mjs.2	+	23	4146	c.3383A>G	c.(3382-3384)AAA>AGA	p.K1128R	USP47_uc001mjr.2_Missense_Mutation_p.K1060R|USP47_uc009ygi.2_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1148					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		GTGTTTGCTAAAGGAATGACT	0.343		NaN											0	0	0	0.010729	0	11	29				
PDE3B	5140	broad.mit.edu	37	11	14666332	14666332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:14666332C>T	uc001mln.2	+	1	1064	c.711C>T	c.(709-711)CTC>CTT	p.L237L	PDE3B_uc001mlm.2_Silent_p.L237L|PDE3B_uc010rcr.1_Silent_p.L237L|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	237	Helical; (Potential).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TCACCAGCCTCGGGTCGCTGC	0.692		NaN											0	0	0	0.00308	0	7	22				
CYP2R1	120227	broad.mit.edu	37	11	14913753	14913753	+	Splice_Site	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:14913753G>C	uc001mlr.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice	CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,						hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTTCCACATCGGCCCGAGCTG	0.677		NaN											0	0	0	0.009096	0	3	16				
CCDC34	91057	broad.mit.edu	37	11	27360567	27360567	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27360567T>C	uc001mrh.1	-	6	977	c.923A>G	c.(922-924)AAT>AGT	p.N308S		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	308											0						TGGATAGGAATTTCCACTGTA	0.338		NaN											0	0	0	0.00308	0	8	37				
LGR4	55366	broad.mit.edu	37	11	27389570	27389570	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27389570G>A	uc001mrj.3	-	18	3185	c.2700C>T	c.(2698-2700)GGC>GGT	p.G900G	LGR4_uc001mrk.3_Silent_p.G876G	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	900	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CCGACTGTGTGCCACAGTCGG	0.512		NaN											0	0	0	0.014323	0	24	44				
WT1	7490	broad.mit.edu	37	11	32410605	32410605	+	Nonstop_Mutation	SNP	C	C	G	rs148856160		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:32410605C>G	uc001mtn.1	-	10	1749	c.1553G>C	c.(1552-1554)TGA>TCA	p.*518S	WT1_uc001mtl.1_Nonstop_Mutation_p.*303S|WT1_uc001mtm.1_Nonstop_Mutation_p.*289S|WT1_uc001mto.1_Nonstop_Mutation_p.*515S|WT1_uc001mtp.1_Nonstop_Mutation_p.*501S|WT1_uc001mtq.1_Nonstop_Mutation_p.*498S|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	518					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGAGACCCCTCAAAGCGCCAG	0.517		NaN	D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				0	0	0	0.004656	0	25	30				
HIPK3	10114	broad.mit.edu	37	11	33361046	33361046	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:33361046A>G	uc001mul.1	+	6	1849	c.1579A>G	c.(1579-1581)ATG>GTG	p.M527V	HIPK3_uc001mum.1_Missense_Mutation_p.M527V|HIPK3_uc009yjv.1_Missense_Mutation_p.M527V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	527					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TTTTGTTAATATGAAACATCT	0.323		NaN											0	0	0	0.004656	0	22	88				
OR4C15	81309	broad.mit.edu	37	11	55322644	55322644	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:55322644A>G	uc010rig.1	+	1	862	c.862A>G	c.(862-864)AAA>GAA	p.K288E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGGGCGCTGGAAAGCTCTCTC	0.443		NaN								HNSCC(20;0.049)			0	0	0	0.007291	0	25	104				
OR8H1	219469	broad.mit.edu	37	11	56058202	56058202	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:56058202G>T	uc010rje.1	-	1	337	c.337C>A	c.(337-339)CTT>ATT	p.L113I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GATGAGAGAAGAAAACATTCA	0.438		NaN											1	0	2.12542e-12	0.00632	2.27309e-12	28	92				
PRG2	5553	broad.mit.edu	37	11	57156559	57156559	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57156559T>G	uc001njz.2	-	2	317	c.290A>C	c.(289-291)AAA>ACA	p.K97T	PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.K97T|PRG2_uc001nkb.2_Missense_Mutation_p.K97T|PRG2_uc001nkd.2_Missense_Mutation_p.K97T|PRG2_uc001nkc.2_Missense_Mutation_p.K97T|PRG2_uc001nke.2_Missense_Mutation_p.K377T	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	97					defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GCCCACCACTTTTACTGTGTC	0.527		NaN											0	0	0	0.010504	0	20	99				
ZDHHC5	25921	broad.mit.edu	37	11	57467491	57467491	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57467491G>A	uc001nkx.1	+	12	3392	c.2136G>A	c.(2134-2136)GAG>GAA	p.E712E	ZDHHC5_uc001nky.1_Silent_p.E659E|ZDHHC5_uc001nkz.1_Silent_p.E526E	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	712						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CCACCTATGAGATTTCGGTGT	0.647		NaN											0	0	0	0.008291	0	11	10				
ZFP91	80829	broad.mit.edu	37	11	58384270	58384270	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384270C>A	uc001nmx.3	+	10	1352	c.1184C>A	c.(1183-1185)ACT>AAT	p.T395N	ZFP91_uc001nmy.3_Missense_Mutation_p.T394N|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	395					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGATTCACACTGGCGAGAAG	0.423		NaN											1	0	0.000274275	0.004482	0.000284165	7	36				
ZFP91	80829	broad.mit.edu	37	11	58384283	58384283	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384283A>G	uc001nmx.3	+	10	1365	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	ZFP91_uc001nmy.3_Silent_p.P398P|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	399					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCGAGAAGCCATTACAGTGAG	0.438		NaN											0	0	0	0.006214	0	9	35				
MS4A14	84689	broad.mit.edu	37	11	60184148	60184148	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:60184148G>A	uc001npj.2	+	5	2272	c.1707G>A	c.(1705-1707)CAG>CAA	p.Q569Q	MS4A14_uc001npi.2_Silent_p.Q457Q|MS4A14_uc001npn.2_Silent_p.Q307Q|MS4A14_uc001npk.2_Silent_p.Q552Q|MS4A14_uc001npl.2_Silent_p.Q307Q|MS4A14_uc001npm.2_Silent_p.Q307Q	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	569	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						CTGAAGATCAGCAAGCCAAAG	0.438		NaN											0	0	0	0.004007	0	17	8				
DAK	26007	broad.mit.edu	37	11	61111381	61111381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61111381G>A	uc001nre.2	+	12	1293	c.1036G>A	c.(1036-1038)GGG>AGG	p.G346R	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.G276R	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	346					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CTCCATTACTGGGCGGAAGCG	0.622		NaN											0	0	0	0.00245	0	15	83				
SYT7	9066	broad.mit.edu	37	11	61318925	61318925	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61318925T>C	uc001nrv.2	-	3	152	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	SYT7_uc009ynr.2_Missense_Mutation_p.Y49C|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	49	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						GGAATTCTTGTAGCGTTTGCC	0.587		NaN											0	0	0	0.001855	0	12	63				
DAGLA	747	broad.mit.edu	37	11	61511362	61511362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61511362G>A	uc001nsa.2	+	20	2641	c.2530G>A	c.(2530-2532)GAC>AAC	p.D844N		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	844	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GCTGGCGGCCGACAGCCTGTC	0.667		NaN											0	0	0	0.01441	0	105	166				
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:63672397C>T	uc001nxw.2	+	16	2395	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	MARK2_uc001nxx.2_Missense_Mutation_p.R552W|MARK2_uc001nxy.2_Missense_Mutation_p.R551W|MARK2_uc001nxv.3_Missense_Mutation_p.R551W|MARK2_uc001nxz.3_Missense_Mutation_p.R572W|MARK2_uc009yoy.2_Missense_Mutation_p.R526W	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCGACAGGTGCGGGACCAGCA	0.647		NaN											0	0	0	0.001168	0	5	86				
PLCB3	5331	broad.mit.edu	37	11	64023082	64023082	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64023082C>T	uc001nzb.2	+	7	591	c.591C>T	c.(589-591)TTC>TTT	p.F197F	PLCB3_uc009ypg.1_Silent_p.F197F|PLCB3_uc009yph.1_Silent_p.F130F|PLCB3_uc009ypi.2_Silent_p.F197F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	197					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCCTCAAATTCAACCGGGTGT	0.642		NaN											0	0	0	0.010818	0	29	37				
PRDX5	25824	broad.mit.edu	37	11	64085722	64085722	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64085722C>T	uc001nzu.2	+	1	154	c.35C>T	c.(34-36)TCA>TTA	p.S12L	TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Missense_Mutation_p.S12L|PRDX5_uc001nzw.2_Missense_Mutation_p.S12L|PRDX5_uc001nzx.2_5'Flank	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	12					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	CTGAGACGCTCAGCGGGCTAT	0.697		NaN											0	0	0	0.001984	0	6	39				
ATG2A	23130	broad.mit.edu	37	11	64669497	64669497	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64669497G>A	uc001obx.2	-	29	4171	c.4056C>T	c.(4054-4056)GGC>GGT	p.G1352G	ATG2A_uc001obw.2_Silent_p.G117G	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1352							protein binding			ovary(1)|central_nervous_system(1)	2						TGTCTCCATCGCCCTCCTCTT	0.627		NaN											0	0	0	0.006214	0	8	95				
DPP3	10072	broad.mit.edu	37	11	66272161	66272161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66272161G>A	uc001oig.1	+	17	2019	c.1957G>A	c.(1957-1959)GAG>AAG	p.E653K	DPP3_uc001oif.1_Missense_Mutation_p.E653K|DPP3_uc010rpe.1_Missense_Mutation_p.E642K|DPP3_uc001oih.1_Silent_p.P20P	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	653					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGCGCCCCCCGAGTGCTTCCT	0.572		NaN											0	0	0	0.004656	0	28	73				
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66617203G>A	uc001ojn.1	-	19	3075	c.3026C>T	c.(3025-3027)TCA>TTA	p.S1009L	PC_uc001ojo.1_Missense_Mutation_p.S1009L|PC_uc001ojp.1_Missense_Mutation_p.S1009L|PC_uc001ojm.1_5'UTR	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1009					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622		NaN											0	0	0	0.006214	0	9	43				
RAD9A	5883	broad.mit.edu	37	11	67161232	67161232	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:67161232G>A	uc001okr.2	+	5	513	c.420G>A	c.(418-420)TCG>TCA	p.S140S	RAD9A_uc001oks.2_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	140					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACCCAGCCTCGTGCCCCCACA	0.652		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.000602	0	5	9				
C2CD3	26005	broad.mit.edu	37	11	73849870	73849870	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:73849870G>A	uc001ouu.2	-	5	1077	c.850C>T	c.(850-852)CTG>TTG	p.L284L	C2CD3_uc001ouv.2_Silent_p.L284L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GAACTGTTCAGAAGGGACATC	0.438		NaN											0	0	0	0.001984	0	7	43				
C11orf82	220042	broad.mit.edu	37	11	82643785	82643785	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:82643785A>T	uc001ozt.2	+	6	1649	c.1405A>T	c.(1405-1407)ACT>TCT	p.T469S	C11orf82_uc010rsr.1_Missense_Mutation_p.T168S|C11orf82_uc010rss.1_Missense_Mutation_p.T168S|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	469					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						CCAGAGAACTACTGGAGCCCT	0.403		NaN											0	0	0	0.010504	0	19	25				
AMOTL1	154810	broad.mit.edu	37	11	94554952	94554952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:94554952C>T	uc001pfb.2	+	4	1548	c.1378C>T	c.(1378-1380)CAG>TAG	p.Q460*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q410*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	460	Potential.			LQ -> HE (in Ref. 2; AAH14126).		cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAGGAACTTCAGGGTTACTA	0.537		NaN											0	0	0	0.012213	0	27	33				
EXPH5	23086	broad.mit.edu	37	11	108383163	108383163	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:108383163C>G	uc001pkk.2	-	6	3182	c.3071G>C	c.(3070-3072)AGA>ACA	p.R1024T	EXPH5_uc010rvy.1_Missense_Mutation_p.R836T|EXPH5_uc010rvz.1_Missense_Mutation_p.R868T|EXPH5_uc010rwa.1_Missense_Mutation_p.R948T	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1024					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCTTGATTTTCTTGGCAAGGT	0.398		NaN											0	0	0	0.014323	0	21	23				
C11orf53	341032	broad.mit.edu	37	11	111154990	111154990	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:111154990G>A	uc001plc.2	+	3	344	c.197G>A	c.(196-198)GGA>GAA	p.G66E		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	hypothetical protein LOC341032	66											0		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAGCCCTACGGAGACTACCGG	0.697		NaN											0	0	0	0.009718	0	44	28				
SNX19	399979	broad.mit.edu	37	11	130773221	130773221	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:130773221T>C	uc001qgk.3	-	8	3050	c.2502A>G	c.(2500-2502)GAA>GAG	p.E834E	SNX19_uc009zcw.2_Silent_p.E71E|SNX19_uc010sce.1_Silent_p.E214E|SNX19_uc010scf.1_Silent_p.E277E|SNX19_uc010scg.1_Silent_p.E71E	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	834					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATTTCCACTGTTCTGTTAGTA	0.453		NaN											0	0	0	0.00499	0	18	24				
RAD52	5893	broad.mit.edu	37	12	1025884	1025884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:1025884G>A	uc001qis.1	-	8	760	c.646C>T	c.(646-648)CAC>TAC	p.H216Y	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.H139Y|RAD52_uc001qiu.1_Missense_Mutation_p.H216Y|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.H216Y	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	216					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGCTGTGGGTGTCCCAGGGCC	0.582		NaN						Homologous_recombination					0	0	0	0.001855	0	13	42				
CACNA2D4	93589	broad.mit.edu	37	12	2017134	2017134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2017134C>T	uc001qjp.2	-	5	787	c.556G>A	c.(556-558)GAG>AAG	p.E186K	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E186K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	186	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGAGGAACTCGGCGCCCAGC	0.602		NaN											0	0	0	0.010504	0	20	42				
CACNA1C	775	broad.mit.edu	37	12	2795357	2795357	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2795357A>G	uc009zdu.1	+	48	6268	c.5955A>G	c.(5953-5955)GAA>GAG	p.E1985E	CACNA1C_uc009zdv.1_Silent_p.E1899E|CACNA1C_uc001qkb.2_Silent_p.E1902E|CACNA1C_uc001qkc.2_Silent_p.E1921E|CACNA1C_uc001qke.2_Silent_p.E1891E|CACNA1C_uc001qkf.2_Silent_p.E1910E|CACNA1C_uc001qjz.2_Silent_p.E1902E|CACNA1C_uc001qkd.2_Silent_p.E1921E|CACNA1C_uc001qkg.2_Silent_p.E1908E|CACNA1C_uc009zdw.1_Silent_p.E1943E|CACNA1C_uc001qkh.2_Silent_p.E1910E|CACNA1C_uc001qkl.2_Silent_p.E1950E|CACNA1C_uc001qkn.2_Silent_p.E1902E|CACNA1C_uc001qko.2_Silent_p.E1922E|CACNA1C_uc001qkp.2_Silent_p.E1902E|CACNA1C_uc001qkr.2_Silent_p.E1919E|CACNA1C_uc001qku.2_Silent_p.E1937E|CACNA1C_uc001qkq.2_Silent_p.E1930E|CACNA1C_uc001qks.2_Silent_p.E1902E|CACNA1C_uc001qkt.2_Silent_p.E1921E|CACNA1C_uc001qki.1_Silent_p.E1709E|CACNA1C_uc001qkj.1_Silent_p.E1673E|CACNA1C_uc001qkk.1_Silent_p.E1638E|CACNA1C_uc001qkm.1_Silent_p.E1698E|CACNA1C_uc010sea.1_Silent_p.E593E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E220E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1985	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCACCTGGAATGTCTGAAGC	0.562		NaN											0	0	0	0.004656	0	25	81				
TNFRSF1A	7132	broad.mit.edu	37	12	6442925	6442925	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6442925G>A	uc001qnu.2	-	3	581	c.300C>T	c.(298-300)CTC>CTT	p.L100L	TNFRSF1A_uc001qnt.2_5'UTR|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_5'UTR|TNFRSF1A_uc009zek.2_Intron|TNFRSF1A_uc010sfa.1_Silent_p.L100L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	100	TNFR-Cys 2.|Extracellular (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						TGGAGCAGCTGAGGCAGTGTC	0.592		NaN											0	0	0	0.004672	0	3	3				
NOP2	4839	broad.mit.edu	37	12	6675746	6675746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6675746T>C	uc001qpk.1	-	3	231	c.187A>G	c.(187-189)AAG>GAG	p.K63E	NOP2_uc001qph.1_Missense_Mutation_p.K63E|NOP2_uc001qpi.1_Missense_Mutation_p.K63E|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.K63E|NOP2_uc001qpm.1_Missense_Mutation_p.K63E			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	63					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TTATTTGTCTTAGGGGCTTCA	0.488		NaN											0	0	0	0.00632	0	25	34				
C1R	715	broad.mit.edu	37	12	7244200	7244200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:7244200C>T	uc010sfy.1	-	2	138	c.79G>A	c.(79-81)GGG>AGG	p.G27R	C1R_uc010sfz.1_Missense_Mutation_p.G41R|C1R_uc010sga.1_Missense_Mutation_p.G27R	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	27	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCACCTCCCCAAATAACTTC	0.537		NaN											0	0	0	0.009096	0	4	3				
DUSP16	80824	broad.mit.edu	37	12	12674023	12674023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:12674023C>T	uc001rao.1	-	2	642	c.10G>A	c.(10-12)GAG>AAG	p.E4K	DUSP16_uc001ran.1_5'UTR	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	4					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAATCATCTCATGGGCCATG	0.453		NaN											0	0	0	0.010729	0	11	17				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20523043G>A	uc001reh.1	+	1	847	c.825G>A	c.(823-825)CTG>CTA	p.L275L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627		NaN											0	0	0	0.008361	0	23	41				
PDE3A	5139	broad.mit.edu	37	12	20799433	20799433	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20799433G>A	uc001reh.1	+	11	2283	c.2261G>A	c.(2260-2262)AGA>AAA	p.R754K		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	754	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GATCATAACAGAATCCATGCC	0.413		NaN											0	0	0	0.008361	0	27	35				
DENND5B	160518	broad.mit.edu	37	12	31595714	31595714	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:31595714A>C	uc001rki.1	-	7	2193	c.2007T>G	c.(2005-2007)AGT>AGG	p.S669R	DENND5B_uc001rkh.1_Missense_Mutation_p.S704R|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.S691R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	669						integral to membrane				ovary(1)|central_nervous_system(1)	2						CTTACTTGTTACTGGTTGGTC	0.418		NaN											0	0	0	0.001984	0	6	20				
YARS2	51067	broad.mit.edu	37	12	32906904	32906904	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:32906904G>A	uc001rli.2	-	2	961	c.895C>T	c.(895-897)CCA>TCA	p.P299S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418		NaN											0	0	0	0.003755	0	33	69				
SLC2A13	114134	broad.mit.edu	37	12	40499284	40499284	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40499284G>A	uc010skm.1	-	1	378	c.327C>T	c.(325-327)CTC>CTT	p.L109L	SLC2A13_uc001rmf.2_Silent_p.L109L	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	109	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				GCTGCCGCTTGAGCAGCAGCA	0.697		NaN								HNSCC(50;0.14)			0	0	0	0.004672	0	3	3				
LRRK2	120892	broad.mit.edu	37	12	40748212	40748212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40748212G>A	uc001rmg.3	+	45	6809	c.6688G>A	c.(6688-6690)GAA>AAA	p.E2230K	LRRK2_uc009zjw.2_Missense_Mutation_p.E1068K|LRRK2_uc001rmi.2_Missense_Mutation_p.E1063K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2230					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCAATACCGAAGATGGGAA	0.408		NaN											0	0	0	0.00308	0	8	23				
CNTN1	1272	broad.mit.edu	37	12	41327360	41327360	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:41327360A>T	uc001rmm.1	+	8	914	c.801A>T	c.(799-801)GGA>GGT	p.G267G	CNTN1_uc009zjy.1_Silent_p.G267G|CNTN1_uc001rmn.1_Silent_p.G256G|CNTN1_uc001rmo.2_Silent_p.G267G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	267	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGCACTTGGAAAGTAAGTAT	0.284		NaN											0	0	0	0.00333	0	24	67				
ARID2	196528	broad.mit.edu	37	12	46287315	46287315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:46287315C>T	uc001ros.1	+	19	5260	c.5260C>T	c.(5260-5262)CGA>TGA	p.R1754*	ARID2_uc001ror.2_Nonsense_Mutation_p.R1754*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R1210*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R1381*|ARID2_uc001rou.1_Nonsense_Mutation_p.R1088*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1754					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTTGTCTTTCGAGATTTTAC	0.403		NaN											0	0	0	0.005443	0	26	36		Valid		
H1FNT	341567	broad.mit.edu	37	12	48723371	48723371	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:48723371G>A	uc001rrm.2	+	1	609	c.297G>A	c.(295-297)GCG>GCA	p.A99A		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	99					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						GCCACGAAGCGCCCAGGGGGC	0.667		NaN											0	0	0	0.00278	0	17	19				
TROAP	10024	broad.mit.edu	37	12	49719543	49719543	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:49719543C>G	uc001rtx.3	+	5	676	c.509C>G	c.(508-510)TCT>TGT	p.S170C	TROAP_uc009zlh.2_Missense_Mutation_p.S170C|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	170					cell adhesion	cytoplasm				ovary(1)	1						GTTCGGGCCTCTGCATATTTG	0.622		NaN											0	0	0	0.013537	0	12	36				
LIMA1	51474	broad.mit.edu	37	12	50571638	50571638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:50571638G>A	uc001rwj.3	-	11	1663	c.1489C>T	c.(1489-1491)CCT>TCT	p.P497S	LIMA1_uc001rwg.3_Missense_Mutation_p.P195S|LIMA1_uc001rwh.3_Missense_Mutation_p.P336S|LIMA1_uc001rwi.3_Missense_Mutation_p.P338S|LIMA1_uc001rwk.3_Missense_Mutation_p.P498S|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	497					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						TTAGCAATAGGGGCATCTTCT	0.522		NaN											0	0	0	0.009718	0	45	85				
SLC11A2	4891	broad.mit.edu	37	12	51384657	51384657	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:51384657A>G	uc001rxe.3	-	15	1593	c.1496T>C	c.(1495-1497)GTC>GCC	p.V499A	SLC11A2_uc001rxd.3_Missense_Mutation_p.V348A|SLC11A2_uc001rxc.3_Missense_Mutation_p.V499A|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Missense_Mutation_p.V112A|SLC11A2_uc010smx.1_Missense_Mutation_p.V495A|SLC11A2_uc001rxh.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxj.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxi.2_Missense_Mutation_p.V499A|SLC11A2_uc001rxk.1_Missense_Mutation_p.V528A|SLC11A2_uc010smy.1_Missense_Mutation_p.V462A	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	499	Helical; (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						TAGGTCCCGGACATAAACCAC	0.478		NaN											0	0	0	0.008871	0	20	38				
KRT7	3855	broad.mit.edu	37	12	52627001	52627001	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:52627001A>G	uc001saa.1	+	1	48	c.-79A>G	c.(-81--77)ATAAA>ATGAA		KRT7_uc009zmf.1_Translation_Start_Site	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7						cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCCGCGGATAAAAGGCGCGG	0.731		NaN											0	0	0	0.000602	0	5	2				
KRT84	3890	broad.mit.edu	37	12	52777374	52777374	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:52777374T>C	uc001sah.1	-	2	803	c.755A>G	c.(754-756)AAG>AGG	p.K252R		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	252	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCACTCACTTCTTCTTGAA	0.582		NaN											0	0	0	0.001168	0	6	30				
KRT3	3850	broad.mit.edu	37	12	53186528	53186528	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:53186528A>G	uc001say.2	-	4	1056	c.990T>C	c.(988-990)GAT>GAC	p.D330D		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	330	Rod.|Coil 1B.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						AGTCGATCTCATCTATCAAGG	0.473		NaN											0	0	0	0.01441	0	70	154				
CALCOCO1	57658	broad.mit.edu	37	12	54115352	54115352	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54115352C>T	uc001sef.2	-	6	801	c.657G>A	c.(655-657)CTG>CTA	p.L219L	CALCOCO1_uc010som.1_Silent_p.L186L|CALCOCO1_uc010son.1_Silent_p.L96L|CALCOCO1_uc001seh.2_Silent_p.L219L|CALCOCO1_uc009znd.2_Silent_p.L219L|CALCOCO1_uc001seg.2_Silent_p.L96L|CALCOCO1_uc010soo.1_Silent_p.L212L	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	219					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						GTTGCCGGCTCAGGATGTCCC	0.537		NaN											0	0	0	0.01441	0	138	260				
HOXC9	3225	broad.mit.edu	37	12	54394372	54394372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54394372G>A	uc001sep.2	+	2	498	c.400G>A	c.(400-402)GAG>AAG	p.E134K	HOXC9_uc001seq.2_Missense_Mutation_p.E134K	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	134					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						CGGCCCAGGGGAGGGCCGCAG	0.781		NaN											0	0	0	0.000602	0	4	2				
HOXC5	3222	broad.mit.edu	37	12	54428131	54428131	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54428131A>T	uc001sew.2	+	2	599	c.524A>T	c.(523-525)CAC>CTC	p.H175L	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	175	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAAGAATTCCACTTTAACCGC	0.537		NaN											0	0	0	0.01441	0	47	76				
OR6C1	390321	broad.mit.edu	37	12	55714720	55714720	+	Silent	SNP	C	C	T	rs149008799		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55714720C>T	uc010spi.1	+	1	337	c.337C>T	c.(337-339)CTG>TTG	p.L113L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						GTTTTACCTTCTGGCTGCCAT	0.403		NaN											0	0	0	0.008291	0	11	28				
OR6C65	403282	broad.mit.edu	37	12	55794973	55794973	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55794973A>G	uc010spl.1	+	1	661	c.661A>G	c.(661-663)AAA>GAA	p.K221E		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTCATCCTTAAAACAATTCT	0.418		NaN											0	0	0	0.004878	0	36	93				
OR6C2	341416	broad.mit.edu	37	12	55846108	55846108	+	Silent	SNP	A	A	G	rs142313431		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55846108A>G	uc001sgz.1	+	1	111	c.111A>G	c.(109-111)GTA>GTG	p.V37V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGTTGAGTGTAACAGGGAACC	0.403		NaN											0	0	0	0.010504	0	20	42				
SUOX	6821	broad.mit.edu	37	12	56396035	56396035	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:56396035C>T	uc001six.2	+	4	356	c.30C>T	c.(28-30)CTC>CTT	p.L10L	SUOX_uc009zoh.2_Silent_p.L10L|SUOX_uc001siy.2_Silent_p.L10L|SUOX_uc001siz.2_Silent_p.L10L|SUOX_uc001sja.2_Silent_p.L10L	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	10						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTGGTCCTCAGGCTCCAAC	0.547		NaN											0	0	0	0.014323	0	21	45				
PPM1H	57460	broad.mit.edu	37	12	63195923	63195923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:63195923G>A	uc001srk.3	-	3	578	c.429C>T	c.(427-429)TCC>TCT	p.S143S		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	143	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AATAGTGGCAGGAAACACCCT	0.617		NaN											0	0	0	0.009096	0	3	24				
LGR5	8549	broad.mit.edu	37	12	71833861	71833861	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:71833861A>G	uc001swl.2	+	1	49	c.1A>G	c.(1-3)ATG>GTG	p.M1V	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.M1V|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	1						integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TTCGGGCACCATGGACACCTC	0.721		NaN											0	0	0	0.007291	0	28	38				
TMEM19	55266	broad.mit.edu	37	12	72080580	72080580	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:72080580C>A	uc001sws.2	+	1	703	c.120C>A	c.(118-120)AGC>AGA	p.S40R	TMEM19_uc001swr.1_Missense_Mutation_p.S26R|TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	40						integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGACTGCAAGCACCTATTATG	0.318		NaN											1	0	0.000274275	0.004482	0.000284165	7	49				
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:79689917C>G	uc001sys.2	+	8	1214	c.543C>G	c.(541-543)TAC>TAG	p.Y181*	SYT1_uc001syt.2_Nonsense_Mutation_p.Y181*|SYT1_uc001syu.2_Nonsense_Mutation_p.Y178*|SYT1_uc001syv.2_Nonsense_Mutation_p.Y181*	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	181	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						CTGATCCTTACGTGAAAGTGT	0.433		NaN											0	0	0	0.010818	0	31	40				
PPFIA2	8499	broad.mit.edu	37	12	82147869	82147869	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:82147869A>G	uc001szo.1	-	3	293	c.132T>C	c.(130-132)CGT>CGC	p.R44R	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|lung(2)|pancreas(1)	6						TGTCTAGAAGACGATCCCTTT	0.527		NaN											0	0	0	0.009096	0	4	25				
CEP290	80184	broad.mit.edu	37	12	88482816	88482816	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:88482816G>C	uc001tar.2	-	31	4366	c.4022C>G	c.(4021-4023)GCC>GGC	p.A1341G	CEP290_uc001taq.2_Missense_Mutation_p.A401G	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1341	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TACCTTTTGGGCTCCTTTGGT	0.209		NaN											0	0	0	0.00499	0	16	29				
KERA	11081	broad.mit.edu	37	12	91449642	91449642	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:91449642T>C	uc001tbl.2	-	2	1036	c.417A>G	c.(415-417)CCA>CCG	p.P139P		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	139	LRR 3.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						TTCTTGGCAATGGAGAAGGTA	0.413		NaN											0	0	0	0.00333	0	25	84				
METAP2	10988	broad.mit.edu	37	12	95907493	95907493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:95907493G>A	uc001tec.2	+	11	1384	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	METAP2_uc010suv.1_Missense_Mutation_p.R394H|METAP2_uc009ztd.2_Missense_Mutation_p.R381H|METAP2_uc001ted.2_Missense_Mutation_p.R416H|METAP2_uc001tef.2_Missense_Mutation_p.R394H|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	417					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	GCCTTCTGCCGCAGATGGCTG	0.408		NaN											0	0	0	0.009096	0	4	76				
HAL	3034	broad.mit.edu	37	12	96374496	96374496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:96374496G>C	uc001tem.1	-	17	1654	c.1357C>G	c.(1357-1359)CTA>GTA	p.L453V	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.L245V|HAL_uc010sux.1_Missense_Mutation_p.L453V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	453					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	AAGTAGTCTAGGGCCTGAAAG	0.493		NaN											0	0	0	0.005443	0	20	72				
MYBPC1	4604	broad.mit.edu	37	12	102036322	102036322	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102036322A>G	uc001tii.2	+	9	818	c.716A>G	c.(715-717)AAG>AGG	p.K239R	MYBPC1_uc001tif.1_Missense_Mutation_p.K252R|MYBPC1_uc001tig.2_Missense_Mutation_p.K264R|MYBPC1_uc010svq.1_Missense_Mutation_p.K226R|MYBPC1_uc001tih.2_Missense_Mutation_p.K264R|MYBPC1_uc001tij.2_Missense_Mutation_p.K239R|MYBPC1_uc010svr.1_Missense_Mutation_p.K239R|MYBPC1_uc010svs.1_Missense_Mutation_p.K239R|MYBPC1_uc010svt.1_Missense_Mutation_p.K227R|MYBPC1_uc010svu.1_Missense_Mutation_p.K220R|MYBPC1_uc001tik.2_Missense_Mutation_p.K213R	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	239					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GGCATGCTCAAGCGACTCAAG	0.627		NaN											0	0	0	0.001855	0	14	26				
CHPT1	56994	broad.mit.edu	37	12	102107950	102107950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102107950G>A	uc001tin.2	+	2	579	c.356G>A	c.(355-357)AGA>AAA	p.R119K	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.R119K	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	119					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						AAACAAGCCAGAAGAACAAAC	0.378		NaN											0	0	0	0.01441	0	52	124				
HSP90B1	7184	broad.mit.edu	37	12	104336508	104336508	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:104336508G>A	uc001tkb.1	+	12	1683	c.1578G>A	c.(1576-1578)CAG>CAA	p.Q526Q	HSP90B1_uc010swg.1_Silent_p.Q191Q|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	526					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	GCCTAGACCAGTATGTGGAAA	0.423		NaN											0	0	0	0.006122	0	18	60				
MTERFD3	80298	broad.mit.edu	37	12	107371523	107371523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:107371523C>T	uc001tme.1	-	2	2789	c.970G>A	c.(970-972)GAA>AAA	p.E324K	MTERFD3_uc001tmf.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E324K	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding				0						GGTGTTAATTCAAGAACCATT	0.358		NaN											0	0	0	0.006999	0	38	106				
CORO1C	23603	broad.mit.edu	37	12	109052672	109052672	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109052672A>C	uc001tnj.2	-	5	568	c.472T>G	c.(472-474)TGG>GGG	p.W158G	CORO1C_uc009zva.2_Missense_Mutation_p.W211G|CORO1C_uc010sxf.1_Intron	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	158	WD 2.				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						CCCACATTCCAGATGATAATG	0.413		NaN											0	0	0	0.012319	0	20	61				
UBE3B	89910	broad.mit.edu	37	12	109935646	109935646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109935646C>T	uc001top.2	+	10	1340	c.737C>T	c.(736-738)TCA>TTA	p.S246L	UBE3B_uc001toq.2_Missense_Mutation_p.S246L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S246L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	246					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GCACAGTTCTCAGACAATCTG	0.527		NaN											0	0	0	0.010818	0	32	90				
UBE3B	89910	broad.mit.edu	37	12	109940962	109940962	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109940962A>G	uc001top.2	+	14	2020	c.1417A>G	c.(1417-1419)ACT>GCT	p.T473A	UBE3B_uc001toq.2_Missense_Mutation_p.T473A|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T473A	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CTCGCTGACAACTCTCACACA	0.517		NaN											0	0	0	0.013537	0	12	39				
OAS2	4939	broad.mit.edu	37	12	113442824	113442824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:113442824C>A	uc001tuj.2	+	7	1405	c.1265C>A	c.(1264-1266)ACC>AAC	p.T422N	OAS2_uc001tui.1_Missense_Mutation_p.T422N	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	422	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AAAAGCTACACCTCCCAAAAA	0.488		NaN											1	0	1.67942e-08	0.006122	1.77192e-08	19	34				
DNAH10	196385	broad.mit.edu	37	12	124311275	124311275	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:124311275G>A	uc001uft.3	+	24	3892	c.3867G>A	c.(3865-3867)CTG>CTA	p.L1289L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1289	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATCAACCTGAATGTGCAGA	0.478		NaN											0	0	0	0.004878	0	38	85				
GOLGA3	2802	broad.mit.edu	37	12	133351795	133351795	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:133351795T>G	uc001ukz.1	-	22	4634	c.4075A>C	c.(4075-4077)AAC>CAC	p.N1359H	GOLGA3_uc001ula.1_Missense_Mutation_p.N1359H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1359	Potential.|Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATGTTGTTCTTCAGC	0.582		NaN											0	0	0	0.003163	0	16	50				
MPHOSPH8	54737	broad.mit.edu	37	13	20220640	20220640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220640G>C	uc001umh.2	+	3	436	c.427G>C	c.(427-429)GAG>CAG	p.E143Q	MPHOSPH8_uc001umf.1_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umi.2_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	143					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TCAGCAAAGTGAGACAAAAGA	0.338		NaN											0	0	0	0.001168	0	5	32				
MPHOSPH8	54737	broad.mit.edu	37	13	20220723	20220723	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220723G>A	uc001umh.2	+	3	519	c.510G>A	c.(508-510)AAG>AAA	p.K170K	MPHOSPH8_uc001umf.1_Silent_p.K170K|MPHOSPH8_uc001umg.2_Silent_p.K170K|MPHOSPH8_uc001umi.2_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	170	Lys-rich.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATCTGAAAAAGAAAAAAGCAA	0.378		NaN											0	0	0	0.001984	0	6	33				
MPHOSPH8	54737	broad.mit.edu	37	13	20220818	20220818	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220818G>C	uc001umh.2	+	3	614	c.605G>C	c.(604-606)AGA>ACA	p.R202T	MPHOSPH8_uc001umf.1_Missense_Mutation_p.R202T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R202T|MPHOSPH8_uc001umi.2_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	202	Lys-rich.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACAAAGAAAAGAATTTCTGAA	0.279		NaN											0	0	0	0.00308	0	8	26				
MPHOSPH8	54737	broad.mit.edu	37	13	20221193	20221193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20221193G>C	uc001umh.2	+	3	989	c.980G>C	c.(979-981)AGA>ACA	p.R327T	MPHOSPH8_uc001umf.1_Missense_Mutation_p.R327T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R327T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R24T	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	327					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACCGATGTCAGAGGCAGGAGG	0.512		NaN											0	0	0	0.001984	0	5	38				
ZMYM2	7750	broad.mit.edu	37	13	20633593	20633593	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20633593C>T	uc001umr.2	+	17	2928	c.2630C>T	c.(2629-2631)ACT>ATT	p.T877I	ZMYM2_uc001ums.2_Missense_Mutation_p.T877I|ZMYM2_uc001umt.2_Missense_Mutation_p.T877I|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.T257I|ZMYM2_uc001umw.2_Missense_Mutation_p.T330I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTAGATGATACTTGGAGGACA	0.338		NaN											0	0	0	0.013537	0	12	28				
PDX1	3651	broad.mit.edu	37	13	28494606	28494606	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:28494606G>A	uc001urt.2	+	1	439	c.331G>A	c.(331-333)GAG>AAG	p.E111K	uc001urs.1_Intron	NM_000209	NP_000200	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	111					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CGTCCTGGAGGAGCCCAACCG	0.701		NaN											0	0	0	0.001984	0	6	6				
PDS5B	23047	broad.mit.edu	37	13	33327664	33327664	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33327664A>G	uc010abf.2	+	25	3089	c.2931A>G	c.(2929-2931)GCA>GCG	p.A977A	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	977					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCAGCATGCAGCTGTTAGTG	0.363		NaN											0	0	0	0.004672	0	3	28				
KL	9365	broad.mit.edu	37	13	33635170	33635170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33635170G>A	uc001uus.2	+	4	1962	c.1954G>A	c.(1954-1956)GCC>ACC	p.A652T	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	652	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCCTCCTGGCCAGGCAGGG	0.627		NaN											0	0	0	0.013537	0	12	61				
FAM48A	55578	broad.mit.edu	37	13	37603934	37603934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:37603934C>T	uc001uwg.2	-	13	1209	c.961G>A	c.(961-963)GAT>AAT	p.D321N	FAM48A_uc010abt.2_Missense_Mutation_p.D322N|FAM48A_uc001uwh.2_Missense_Mutation_p.D322N|FAM48A_uc001uwi.2_Missense_Mutation_p.D321N|FAM48A_uc001uwj.2_Missense_Mutation_p.D322N|FAM48A_uc001uwk.2_Missense_Mutation_p.D321N|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Missense_Mutation_p.D321N	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	321					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TGTGAGTCATCAGATTTGATA	0.348		NaN											0	0	0	0.004482	0	8	46				
FREM2	341640	broad.mit.edu	37	13	39262253	39262253	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39262253G>A	uc001uwv.2	+	1	1081	c.772G>A	c.(772-774)GCT>ACT	p.A258T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	258	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACTGCAAAGCTTTCCAGGA	0.642		NaN											0	0	0	0.012319	0	19	79				
NHLRC3	387921	broad.mit.edu	37	13	39621938	39621938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39621938C>T	uc001uxc.2	+	7	1241	c.919C>T	c.(919-921)CAA>TAA	p.Q307*	NHLRC3_uc001uxd.2_Nonsense_Mutation_p.Q240*|NHLRC3_uc001uxe.2_Nonsense_Mutation_p.Q110*	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	307	NHL 4.					extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACTAGCAGATCAAGTTTTGCC	0.468		NaN											0	0	0	0.012319	0	18	43				
FOXO1	2308	broad.mit.edu	37	13	41134387	41134387	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:41134387A>G	uc001uxl.3	-	2	1626	c.1241T>C	c.(1240-1242)TTG>TCG	p.L414S	FOXO1_uc010acc.1_Missense_Mutation_p.L229S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	414					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGGTGAATTCAAACTGGTGTT	0.488		NaN											0	0	0	0.005443	0	22	93				
KIAA0564	23078	broad.mit.edu	37	13	42189117	42189117	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42189117C>T	uc001uyj.2	-	38	4785	c.4715G>A	c.(4714-4716)GGA>GAA	p.G1572E		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1572						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCAACCTGTTCCGCCAGCCCA	0.577		NaN											0	0	0	0.004482	0	9	42				
DGKH	160851	broad.mit.edu	37	13	42763216	42763216	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42763216G>A	uc001uyl.1	+	15	1704	c.1683G>A	c.(1681-1683)TTG>TTA	p.L561L	DGKH_uc010tfh.1_Silent_p.L561L|DGKH_uc001uym.1_Silent_p.L561L|DGKH_uc010tfi.1_Silent_p.L316L|DGKH_uc010tfj.1_Silent_p.L416L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.L416L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	561					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGCAGGCTTTGCACACAGATT	0.483		NaN											0	0	0	0.006214	0	8	32				
CPB2	1361	broad.mit.edu	37	13	46661885	46661885	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:46661885A>G	uc001vaw.2	-	2	212	c.145T>C	c.(145-147)TAT>CAT	p.Y49H	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.Y49H	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	49					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATTACCTCATATGTTGTAGTA	0.373		NaN											0	0	0	0.01441	0	42	56				
SETDB2	83852	broad.mit.edu	37	13	50050956	50050956	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:50050956A>T	uc001vcz.2	+	7	1592	c.686A>T	c.(685-687)CAG>CTG	p.Q229L	SETDB2_uc010adg.2_Missense_Mutation_p.Q205L|SETDB2_uc001vcy.3_Missense_Mutation_p.Q217L|SETDB2_uc010adh.2_Missense_Mutation_p.Q217L|SETDB2_uc001vda.2_Missense_Mutation_p.Q217L	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	229	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACCTATGTTCAGTTGGCTCGG	0.378		NaN											0	0	0	0.013726	0	34	49				
CKAP2	26586	broad.mit.edu	37	13	53035696	53035696	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:53035696A>G	uc001vgv.2	+	4	935	c.738A>G	c.(736-738)ACA>ACG	p.T246T	CKAP2_uc001vgt.2_Silent_p.T245T|CKAP2_uc001vgu.2_Silent_p.T245T|CKAP2_uc010tha.1_Silent_p.T197T	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	246					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGAGCACTACATCTCAGAACA	0.423		NaN											0	0	0	0.010729	0	9	30				
MYCBP2	23077	broad.mit.edu	37	13	77669735	77669735	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77669735G>A	uc001vkf.2	-	59	9934	c.9843C>T	c.(9841-9843)GTC>GTT	p.V3281V	MYCBP2_uc010aev.2_Silent_p.V2685V|MYCBP2_uc001vke.2_5'Flank	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGATTGTTTGACCTGGCGAA	0.373		NaN											0	0	0	0.004656	0	24	33				
MYCBP2	23077	broad.mit.edu	37	13	77852999	77852999	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77852999T>C	uc001vkf.2	-	5	619	c.528A>G	c.(526-528)ACA>ACG	p.T176T	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGAAAATCGTGTCTCTTTGA	0.438		NaN											0	0	0	0.006122	0	16	29				
RAP2A	5911	broad.mit.edu	37	13	98086808	98086808	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:98086808C>T	uc001vnd.2	+	1	334	c.84C>T	c.(82-84)TTC>TTT	p.F28F		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	28					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CCGGCACCTTCATCGAGAAAT	0.597		NaN											0	0	0	0.013726	0	33	105				
FARP1	10160	broad.mit.edu	37	13	99083317	99083317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:99083317G>A	uc001vnj.2	+	18	2262	c.1926G>A	c.(1924-1926)TGG>TGA	p.W642*	FARP1_uc001vnh.2_Nonsense_Mutation_p.W642*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	642	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTGTGGAAGCACAGCG	0.577		NaN											0	0	0	0.010729	0	11	46				
CUL4A	8451	broad.mit.edu	37	13	113893835	113893835	+	Silent	SNP	G	G	T	rs138821614	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:113893835G>T	uc010tjy.1	+	11	1016	c.1005G>T	c.(1003-1005)GCG>GCT	p.A335A	CUL4A_uc010tjx.1_Silent_p.A235A|CUL4A_uc010agu.2_Silent_p.A196A|CUL4A_uc010tjz.1_Silent_p.A14A	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	335					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGCAGCAGGCGCTGCTGCAGC	0.637		NaN											1	0	1.96895e-08	0.00278	2.07232e-08	20	74				
POTEG	404785	broad.mit.edu	37	14	19566047	19566047	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:19566047A>G	uc001vuz.1	+	6	1143	c.1091A>G	c.(1090-1092)CAG>CGG	p.Q364R	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	364										ovary(1)	1						AAAGAAAAACAGATGCTAAAA	0.229		NaN											0	0	0	0.013537	0	10	135				
TEP1	7011	broad.mit.edu	37	14	20871547	20871547	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:20871547C>G	uc001vxe.2	-	7	1295	c.1255G>C	c.(1255-1257)GAG>CAG	p.E419Q	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.E311Q	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTTCTCTGCTCTTCTCTGAGA	0.408		NaN											0	0	0	0.01441	0	65	97				
JUB	84962	broad.mit.edu	37	14	23451348	23451348	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:23451348C>T	uc001whz.2	-	1	504	c.128G>A	c.(127-129)GGA>GAA	p.G43E		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	43	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CTTCCTAGGTCCCCCCAACCC	0.677		NaN											0	0	0	0.010729	0	11	42				
DHRS4L2	317749	broad.mit.edu	37	14	24470602	24470602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24470602C>T	uc001wli.3	+	6	671	c.541C>T	c.(541-543)CCT>TCT	p.P181S	DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Missense_Mutation_p.P104S|DHRS4L2_uc010alb.2_Missense_Mutation_p.P55S	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4	119							binding|oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)		GGGCTTCAGTCCTTACAATGT	0.478		NaN											0	0	0	0.009535	0	25	88				
NRL	4901	broad.mit.edu	37	14	24551781	24551781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24551781C>T	uc001wlo.2	-	2	408	c.277G>A	c.(277-279)GAA>AAA	p.E93K	NRL_uc001wlp.2_Missense_Mutation_p.E93K|NRL_uc001wlq.2_Missense_Mutation_p.E93K	NM_006177	NP_006168	P54845	NRL_HUMAN	neural retina leucine zipper	93					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding				0				GBM - Glioblastoma multiforme(265;0.0181)		ATGGCCTCTTCAGGACTCAGC	0.682		NaN											0	0	0	0.010729	0	12	37				
LTB4R2	56413	broad.mit.edu	37	14	24780363	24780363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24780363G>A	uc001woq.1	+	1	2203	c.586G>A	c.(586-588)GAC>AAC	p.D196N	CIDEB_uc001woo.2_5'UTR|CIDEB_uc001wop.2_5'UTR|LTB4R2_uc010alo.2_Missense_Mutation_p.D165N|LTB4R2_uc001wor.2_Missense_Mutation_p.D165N|LTB4R_uc001wos.2_5'Flank|LTB4R_uc010alp.2_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196	Extracellular (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0				GBM - Glioblastoma multiforme(265;0.018)		CCTGTGGAGGGACCGCGTATG	0.731		NaN											0	0	0	0.001984	0	6	15				
PRKD1	5587	broad.mit.edu	37	14	30046445	30046445	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:30046445C>T	uc001wqh.2	-	18	2919	c.2738G>A	c.(2737-2739)TGA>TAA	p.*913*		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	913					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGATGGAACTCAGAGGATGCT	0.443		NaN											0	0	0	0.010504	0	19	46				
STRN3	29966	broad.mit.edu	37	14	31416386	31416386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:31416386G>A	uc001wqu.2	-	5	842	c.626C>T	c.(625-627)TCA>TTA	p.S209L	STRN3_uc001wqv.2_Missense_Mutation_p.S209L|STRN3_uc010tpj.1_RNA	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	209					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTGGTTCTGAATTAGATAG	0.348		NaN											0	0	0	0.005443	0	25	62				
NKX2-8	26257	broad.mit.edu	37	14	37050400	37050400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37050400G>A	uc001wtx.2	-	2	619	c.427C>T	c.(427-429)CGC>TGC	p.R143C		NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8	143	Homeobox.				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGGAGCGCGAGCGCGCTTC	0.701		NaN											0	0	0	0.000602	0	4	6				
MIPOL1	145282	broad.mit.edu	37	14	37739687	37739687	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37739687C>T	uc001wuc.2	+	7	953	c.450C>T	c.(448-450)CTC>CTT	p.L150L	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.L119L|MIPOL1_uc001wud.2_Silent_p.L150L|MIPOL1_uc010ams.2_Silent_p.L150L|MIPOL1_uc001wue.2_Silent_p.L119L|MIPOL1_uc010amt.2_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	150	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGCTGGAACTCCAAGAGAAAG	0.333		NaN											0	0	0	0.004482	0	8	15				
FOXA1	3169	broad.mit.edu	37	14	38061866	38061866	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:38061866C>T	uc001wuf.2	-	2	435	c.123G>A	c.(121-123)ATG>ATA	p.M41I	FOXA1_uc010tpz.1_Missense_Mutation_p.M8I	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	41					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGGAGTTCATGGAGCCCA	0.597		NaN											0	0	0	0.006214	0	9	60		Valid		
LRFN5	145581	broad.mit.edu	37	14	42356687	42356687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:42356687C>T	uc001wvm.2	+	3	2057	c.859C>T	c.(859-861)CCT>TCT	p.P287S	LRFN5_uc010ana.2_Missense_Mutation_p.P287S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	287	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGTGAGCCTCCTCTCATTAC	0.493		NaN								HNSCC(30;0.082)			0	0	0	0.003163	0	16	56				
KLHL28	54813	broad.mit.edu	37	14	45414370	45414370	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:45414370C>T	uc001wvq.2	-	2	1008	c.762G>A	c.(760-762)TTG>TTA	p.L254L	KLHL28_uc001wvr.2_Silent_p.L254L|KLHL28_uc001wvt.3_Silent_p.L254L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	254										ovary(1)	1						GGGCTTCATTCAAAAGATGTT	0.398		NaN											0	0	0	0.001168	0	6	30				
C14orf183	196913	broad.mit.edu	37	14	50559295	50559295	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:50559295T>C	uc010tqk.1	-	1	67	c.67A>G	c.(67-69)ATG>GTG	p.M23V		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	23											0						CACATTTCCATCCAGATTTCA	0.418		NaN											0	0	0	0.013537	0	11	28				
ARID4A	5926	broad.mit.edu	37	14	58820410	58820410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:58820410G>A	uc001xdp.2	+	17	1944	c.1690G>A	c.(1690-1692)GAG>AAG	p.E564K	ARID4A_uc001xdo.2_Missense_Mutation_p.E564K|ARID4A_uc001xdq.2_Missense_Mutation_p.E564K|ARID4A_uc010apg.1_Missense_Mutation_p.E242K	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	564					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						CTCTGAAGGAGAGGAAGATGA	0.358		NaN											0	0	0	0.010729	0	11	16				
C14orf39	317761	broad.mit.edu	37	14	60945040	60945040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:60945040G>A	uc001xez.3	-	5	411	c.301C>T	c.(301-303)CAA>TAA	p.Q101*	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	101										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACAGTTCCTTGATAAACAGTA	0.289		NaN											0	0	0	0.003163	0	12	27				
HSPA2	3306	broad.mit.edu	37	14	65008648	65008648	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:65008648G>C	uc001xhj.2	+	2	1157	c.1081G>C	c.(1081-1083)GAG>CAG	p.E361Q	HSPA2_uc001xhk.3_Missense_Mutation_p.E361Q	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	361					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAACGGCAAGGAGCTGAACAA	0.602		NaN											0	0	0	0.003163	0	15	42				
MPP5	64398	broad.mit.edu	37	14	67768707	67768707	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:67768707G>A	uc001xjc.2	+	6	1139	c.673G>A	c.(673-675)GAT>AAT	p.D225N	MPP5_uc001xjd.2_Missense_Mutation_p.D191N|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	225	Interaction with LIN7C (By similarity).|L27 2.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTGGCCCACGATAAGGTTGC	0.383		NaN											0	0	0	0.00245	0	14	31				
SLC8A3	6547	broad.mit.edu	37	14	70513028	70513028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70513028C>G	uc001xly.2	-	8	3174	c.2420G>C	c.(2419-2421)AGC>ACC	p.S807T	SLC8A3_uc001xlu.2_Missense_Mutation_p.S164T|SLC8A3_uc001xlv.2_Missense_Mutation_p.S178T|SLC8A3_uc001xlw.2_Missense_Mutation_p.S804T|SLC8A3_uc001xlx.2_Missense_Mutation_p.S805T|SLC8A3_uc001xlz.2_Missense_Mutation_p.S801T|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	807	Alpha-2.|Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCAGCTTTGCTGGCAAACGT	0.557		NaN									OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	20				
SLC8A3	6547	broad.mit.edu	37	14	70634195	70634195	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70634195C>T	uc001xly.2	-	2	1699	c.945G>A	c.(943-945)GAG>GAA	p.E315E	SLC8A3_uc001xlw.2_Silent_p.E315E|SLC8A3_uc001xlx.2_Silent_p.E315E|SLC8A3_uc001xlz.2_Silent_p.E315E|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	315	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCGGATCATCTCTCTGCGGG	0.483		NaN											0	0	0	0.003163	0	14	44				
TTC9	23508	broad.mit.edu	37	14	71134362	71134362	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:71134362A>C	uc001xmi.2	+	2	831	c.488A>C	c.(487-489)AAC>ACC	p.N163T		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	163	TPR 3.						binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GAAGGGGAGAACTTCAAGGCC	0.507		NaN											0	0	0	0.004007	0	17	48				
TC2N	123036	broad.mit.edu	37	14	92258883	92258883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92258883G>A	uc001xzu.3	-	9	1066	c.875C>T	c.(874-876)ACG>ATG	p.T292M	TC2N_uc001xzt.3_Missense_Mutation_p.T292M|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.T292M	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	292						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		AAATACAAACGTTTCCATAAA	0.254		NaN											0	0	0	0.001984	0	6	24				
TRIP11	9321	broad.mit.edu	37	14	92466417	92466417	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92466417T>A	uc001xzy.2	-	12	5381	c.4593A>T	c.(4591-4593)GCA>GCT	p.A1531A	TRIP11_uc010auf.1_Silent_p.A1267A	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1531	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTGATTTAACTGCATTTAAAA	0.353		NaN	T	PDGFRB	AML								0	0	0	0.00308	0	7	25				
GOLGA5	9950	broad.mit.edu	37	14	93299524	93299524	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:93299524C>A	uc001yaz.1	+	10	1959	c.1777C>A	c.(1777-1779)CAG>AAG	p.Q593K	GOLGA5_uc001yba.1_5'UTR	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	593	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TCGACTCCATCAGCTAACAGA	0.413		NaN	T	RET	papillary thyroid								1	0	3.62473e-10	0.012319	3.8622e-10	22	50				
DYNC1H1	1778	broad.mit.edu	37	14	102446773	102446773	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102446773C>A	uc001yks.2	+	5	1011	c.847C>A	c.(847-849)CGT>AGT	p.R283S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	283	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AAACTTGGAACGTGCGTTATA	0.468		NaN											1	0	0.00024832	0.009096	0.000257894	4	35				
ZNF839	55778	broad.mit.edu	37	14	102805205	102805205	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102805205C>G	uc001ylo.2	+	6	1714	c.1364C>G	c.(1363-1365)CCA>CGA	p.P455R	ZNF839_uc010awk.1_Missense_Mutation_p.P571R|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P455R|ZNF839_uc001ylr.2_Missense_Mutation_p.P380R|ZNF839_uc001yls.2_Missense_Mutation_p.P70R|ZNF839_uc001ylt.2_Missense_Mutation_p.P45R	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	455						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAAATACACCCAGACAACCTT	0.502		NaN											0	0	0	0.001168	0	5	31				
TRMT61A	115708	broad.mit.edu	37	14	103996324	103996324	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:103996324C>G	uc001yng.2	+	2	128	c.9C>G	c.(7-9)TTC>TTG	p.F3L	TRMT61A_uc010aws.2_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	tRNA(m1A58)-methyltransferase subunit TRM61	3						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity				0						CCATGAGCTTCGTGGCATACG	0.617		NaN											0	0	0	0.000602	0	3	12				
AHNAK2	113146	broad.mit.edu	37	14	105407270	105407270	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:105407270A>G	uc010axc.1	-	7	14638	c.14518T>C	c.(14518-14520)TCT>CCT	p.S4840P	AHNAK2_uc001ypx.2_Missense_Mutation_p.S4740P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4840						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCTTGAGATGTTGGAACT	0.463		NaN											0	0	0	0.009096	0	4	13				
C15orf2	23742	broad.mit.edu	37	15	24922847	24922847	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:24922847G>A	uc001ywo.2	+	1	2307	c.1833G>A	c.(1831-1833)CAG>CAA	p.Q611Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	611					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTGCAGAGCAGAGGCACCCGG	0.463		NaN											0	0	0	0.013537	0	12	49				
NDNL2	56160	broad.mit.edu	37	15	29561649	29561649	+	Silent	SNP	C	C	T	rs138846663		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:29561649C>T	uc001zco.2	-	1	369	c.261G>A	c.(259-261)CTG>CTA	p.L87L	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	87	MAGE.				regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGACACTTTCAGCTCCAGCT	0.478		NaN									OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.013537	0	11	53				
TRPM1	4308	broad.mit.edu	37	15	31360175	31360175	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:31360175T>C	uc001zfm.2	-	4	462	c.334A>G	c.(334-336)ATG>GTG	p.M112V	TRPM1_uc010azy.2_Missense_Mutation_p.M25V|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	112	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGGGCTGCATCTCAAAGTTC	0.537		NaN											0	0	0	0.014323	0	22	81				
EIF2AK4	440275	broad.mit.edu	37	15	40241433	40241433	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:40241433G>A	uc001zkm.1	+	4	527	c.477G>A	c.(475-477)CAG>CAA	p.Q159Q	EIF2AK4_uc001zkl.2_Silent_p.Q159Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	159					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAGCAGCAGAGGCTGTTGG	0.542		NaN											0	0	0	0.008291	0	10	33				
RHOV	171177	broad.mit.edu	37	15	41165414	41165414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165414C>T	uc001znd.2	-	3	703	c.553G>A	c.(553-555)GAG>AAG	p.E185K		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCTGAGCACTCAAGGTAGCAG	0.577		NaN											0	0	0	0.00632	0	27	71				
RHOV	171177	broad.mit.edu	37	15	41165937	41165937	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165937T>A	uc001znd.2	-	2	362	c.212A>T	c.(211-213)CAA>CTA	p.Q71L		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	71					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACCAGGACTTGCACTGCAGG	0.697		NaN											0	0	0	0.00333	0	23	91				
INO80	54617	broad.mit.edu	37	15	41337108	41337108	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337108C>G	uc001zni.2	-	24	3114	c.2901G>C	c.(2899-2901)TTG>TTC	p.L967F	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	967	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TTACCTTTAACAAAGGGCAGC	0.388		NaN											0	0	0	0.001984	0	7	29				
INO80	54617	broad.mit.edu	37	15	41337203	41337203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337203C>T	uc001zni.2	-	24	3019	c.2806G>A	c.(2806-2808)GAA>AAA	p.E936K	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	936	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CTCTCCCCTTCTGGCGCTCCC	0.493		NaN											0	0	0	0.00499	0	14	49				
WDR76	79968	broad.mit.edu	37	15	44127283	44127283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:44127283G>A	uc001zti.1	+	3	510	c.487G>A	c.(487-489)GAA>AAA	p.E163K		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	163											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GTCACCCTACGAAAGGAAGAG	0.353		NaN											0	0	0	0.00308	0	8	28				
COPS2	9318	broad.mit.edu	37	15	49437268	49437268	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:49437268G>C	uc001zxf.2	-	2	141	c.62C>G	c.(61-63)TCT>TGT	p.S21C	COPS2_uc001zxh.2_Missense_Mutation_p.S21C|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	21					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTATCTTCAGAGTATTCCTG	0.348		NaN											0	0	0	0.003163	0	14	41				
USP8	9101	broad.mit.edu	37	15	50776527	50776527	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:50776527G>A	uc001zym.3	+	13	2359	c.1859G>A	c.(1858-1860)AGA>AAA	p.R620K	USP8_uc001zyl.3_Missense_Mutation_p.R620K|USP8_uc001zyn.3_Missense_Mutation_p.R620K|USP8_uc010ufh.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	620					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAACTTTTAGAGAGGATACA	0.299		NaN											0	0	0	0.010729	0	9	49				
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51791720C>G	uc002abf.2	-	18	3926	c.3701G>C	c.(3700-3702)AGA>ACA	p.R1234T	DMXL2_uc010ufy.1_Missense_Mutation_p.R1234T|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428		NaN											0	0	0	0.003163	0	16	40				
DMXL2	23312	broad.mit.edu	37	15	51795035	51795035	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51795035G>A	uc002abf.2	-	17	3185	c.2960C>T	c.(2959-2961)TCA>TTA	p.S987L	DMXL2_uc010ufy.1_Missense_Mutation_p.S987L|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	987						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TACTTCAACTGATTCTGGGAG	0.418		NaN											0	0	0	0.006214	0	9	46				
RPL4	6124	broad.mit.edu	37	15	66792429	66792429	+	Missense_Mutation	SNP	T	T	C	rs139349583		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:66792429T>C	uc002apv.2	-	9	1059	c.1003A>G	c.(1003-1005)ATG>GTG	p.M335V	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.M241V|RPL4_uc002apw.2_Missense_Mutation_p.M241V|RPL4_uc002apx.2_Missense_Mutation_p.M241V	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	335					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						TTCCGGCGCATGGTCTTTGCA	0.328		NaN											0	0	0	0.010729	0	11	31				
ANP32A	8125	broad.mit.edu	37	15	69080146	69080146	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69080146G>A	uc002arl.2	-	2	338	c.167C>T	c.(166-168)TCA>TTA	p.S56L		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	56	LRR 2.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						GTTTGCGATTGAGGTGAGGCC	0.468		NaN											0	0	0	0.013537	0	13	56				
NOX5	79400	broad.mit.edu	37	15	69327745	69327745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69327745C>T	uc002ars.1	+	6	927	c.907C>T	c.(907-909)CAA>TAA	p.Q303*	NOX5_uc002arp.1_Nonsense_Mutation_p.Q285*|NOX5_uc002arq.1_Nonsense_Mutation_p.Q257*|NOX5_uc010bid.1_Nonsense_Mutation_p.Q268*|NOX5_uc002arr.1_Nonsense_Mutation_p.Q275*|NOX5_uc010bie.1_Nonsense_Mutation_p.Q103*|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303	Ferric oxidoreductase.|Cytoplasmic (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GTGGCTGGCTCAAGTCCTACC	0.612		NaN											0	0	0	0.010729	0	12	34				
THAP10	56906	broad.mit.edu	37	15	71184460	71184460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:71184460G>C	uc002asv.2	-	1	294	c.152C>G	c.(151-153)TCG>TGG	p.S51W	LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	51	THAP-type.						DNA binding|metal ion binding			ovary(1)|skin(1)	2						GCAGATGACCGAGCGGTCATT	0.637		NaN											0	0	0	0.00308	0	6	31				
CYP11A1	1583	broad.mit.edu	37	15	74640360	74640360	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:74640360G>A	uc002axt.2	-	2	461	c.306C>T	c.(304-306)ATC>ATT	p.I102I	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.I102I|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.I102I	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	102					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTTCAGGGTCGATGACATAAA	0.443		NaN											0	0	0	0.008871	0	15	31				
SGK269	79834	broad.mit.edu	37	15	77406944	77406944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:77406944T>G	uc002bcm.2	-	6	5103	c.4795A>C	c.(4795-4797)ATC>CTC	p.I1599L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1599	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		ATCTCATAGATGAGGATGCCT	0.547		NaN											0	0	0	0.003163	0	16	28				
C15orf26	161502	broad.mit.edu	37	15	81440822	81440822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81440822C>G	uc002bgb.2	+	7	881	c.854C>G	c.(853-855)CCC>CGC	p.P285R		NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	285											0						CCCAAACCACCCACAGAGGAC	0.547		NaN											0	0	0	0.008291	0	9	50				
TMC3	342125	broad.mit.edu	37	15	81636366	81636366	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81636366G>A	uc002bgo.1	-	14	1539	c.1539C>T	c.(1537-1539)ATC>ATT	p.I513I	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.I513I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	513	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						GCATGTCAATGATGGAGAGCT	0.537		NaN											0	0	0	0.004482	0	8	32				
AP3B2	8120	broad.mit.edu	37	15	83357579	83357579	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:83357579T>C	uc010uoh.1	-	4	446	c.269A>G	c.(268-270)AAG>AGG	p.K90R	AP3B2_uc010uoi.1_Missense_Mutation_p.K90R|AP3B2_uc010uoj.1_Intron|AP3B2_uc010uok.1_Missense_Mutation_p.K90R	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	90					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GACAAGCTTCTTCACCTTGGG	0.597		NaN											0	0	0	0.009096	0	3	6				
ALPK3	57538	broad.mit.edu	37	15	85402570	85402570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:85402570C>T	uc002ble.2	+	7	4687	c.4520C>T	c.(4519-4521)TCA>TTA	p.S1507L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1507	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTAGTGACTCAGTCTTGACA	0.572		NaN											0	0	0	0.009096	0	4	25				
AKAP13	11214	broad.mit.edu	37	15	86087161	86087161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:86087161C>T	uc002blv.1	+	5	807	c.637C>T	c.(637-639)CAC>TAC	p.H213Y	AKAP13_uc002blt.1_Missense_Mutation_p.H213Y|AKAP13_uc002blu.1_Missense_Mutation_p.H213Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	213					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GCGAGGCTATCACAAGCTGCA	0.587		NaN											0	0	0	0.00245	0	12	40				
FANCI	55215	broad.mit.edu	37	15	89848417	89848417	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:89848417A>C	uc010bnp.1	+	29	3220	c.3130A>C	c.(3130-3132)ATT>CTT	p.I1044L	FANCI_uc002bnm.1_Missense_Mutation_p.I984L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.I805L|FANCI_uc002bnq.1_Missense_Mutation_p.I457L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1044					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCCTGTCATTCTGCTGCG	0.453		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.005443	0	24	58				
IQGAP1	8826	broad.mit.edu	37	15	90976974	90976974	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:90976974T>C	uc002bpl.1	+	5	515	c.414T>C	c.(412-414)GAT>GAC	p.D138D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	138	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACTACAGATATCTATGATC	0.338		NaN											0	0	0	0.00333	0	22	62				
LUC7L	55692	broad.mit.edu	37	16	239316	239316	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:239316T>C	uc002cgc.1	-	10	1108	c.997A>G	c.(997-999)AGA>GGA	p.R333G	LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R247G	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	333	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GACTCCTCTCTGGATGCCCGC	0.647		NaN											0	0	0	0.01441	0	50	30				
IFT140	9742	broad.mit.edu	37	16	1576661	1576661	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:1576661C>G	uc002cmb.2	-	20	2898	c.2536G>C	c.(2536-2538)GAG>CAG	p.E846Q	IFT140_uc002clz.2_Intron|TMEM204_uc002cmc.2_5'Flank	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	846										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				ACGCGGGCCTCTAGCTCCGGC	0.741		NaN											0	0	0	0.001984	0	5	10				
CASKIN1	57524	broad.mit.edu	37	16	2236758	2236758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:2236758C>A	uc010bsg.1	-	10	1030	c.998G>T	c.(997-999)CGG>CTG	p.R333L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	333	SH3.				signal transduction	cytoplasm				skin(2)	2						GTAGCCCACCCGGTCATTGCC	0.677		NaN											1	0	6.94344e-10	0.006122	7.3892e-10	19	14				
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:21172532C>T	uc002dif.3	+	2	390	c.29C>T	c.(28-30)TCA>TTA	p.S10L	DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.S10L|TMEM159_uc002dih.3_Missense_Mutation_p.S10L	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.438		NaN											0	0	0	0.005443	0	24	52				
ARHGAP17	55114	broad.mit.edu	37	16	24963676	24963676	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:24963676T>C	uc002dnb.2	-	12	1073	c.980A>G	c.(979-981)TAT>TGT	p.Y327C	ARHGAP17_uc002dna.2_Missense_Mutation_p.Y54C|ARHGAP17_uc002dnc.2_Missense_Mutation_p.Y327C|ARHGAP17_uc010vcf.1_Missense_Mutation_p.Y148C|ARHGAP17_uc002dnf.2_Missense_Mutation_p.Y235C	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	327	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TTCCCGTAAATAGGATTTTAA	0.333		NaN											0	0	0	0.003163	0	13	24				
IL4R	3566	broad.mit.edu	37	16	27373925	27373925	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:27373925G>A	uc002don.2	+	11	1494	c.1252G>A	c.(1252-1254)GAG>AAG	p.E418K	IL4R_uc002dop.3_Missense_Mutation_p.E403K|IL4R_uc010bxy.2_Missense_Mutation_p.E418K|IL4R_uc002doo.2_Missense_Mutation_p.E258K	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	418	Cytoplasmic (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						GCTCGGAGAGGAGAATGGGGG	0.597		NaN											0	0	0	0.010729	0	10	50				
SULT1A2	6799	broad.mit.edu	37	16	28603636	28603636	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:28603636G>A	uc002dqg.1	-	7	1074	c.723C>T	c.(721-723)ACC>ACT	p.T241T	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.T241T	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	241					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						GGCGGACGGTGGTGTAGTTGG	0.592		NaN											0	0	0	0.005443	0	26	121				
PRRT2	112476	broad.mit.edu	37	16	29824989	29824989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:29824989C>T	uc002due.3	+	2	915	c.614C>T	c.(613-615)TCA>TTA	p.S205L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S205L|PRRT2_uc002duf.1_Missense_Mutation_p.S205L|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	205	Extracellular (Potential).|Pro-rich.				response to biotic stimulus	integral to membrane					0						TCACCACCCTCAAAAAAATCC	0.612		NaN											0	0	0	0.00308	0	7	8				
PRSS53	339105	broad.mit.edu	37	16	31098143	31098143	+	Missense_Mutation	SNP	C	C	T	rs138969193	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31098143C>T	uc002eaq.2	-	4	319	c.319G>A	c.(319-321)GAA>AAA	p.E107K	PRSS53_uc002ear.2_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	107	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity				0						CCCACCTCTTCGGCCCCAGGG	0.642		NaN											0	0	0	0.008291	0	11	56				
ITGAM	3684	broad.mit.edu	37	16	31341893	31341893	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31341893G>A	uc002ebq.2	+	28	3341	c.3243G>A	c.(3241-3243)CTG>CTA	p.L1081L	ITGAM_uc002ebr.2_Silent_p.L1082L|ITGAM_uc010can.2_Silent_p.L487L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1081	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TGTTCACCCTGCTGCCGGGAC	0.592		NaN											0	0	0	0.00308	0	7	14				
ABCC12	94160	broad.mit.edu	37	16	48180326	48180326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:48180326C>T	uc002efc.1	-	1	356	c.10G>A	c.(10-12)GAA>AAA	p.E4K	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.E4K|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	4						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGGTCCTTCACCCACCATC	0.552		NaN											0	0	0	0.004482	0	8	55				
ADCY7	113	broad.mit.edu	37	16	50332877	50332877	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50332877C>T	uc002egd.1	+	7	1279	c.1011C>T	c.(1009-1011)CCC>CCT	p.P337P	ADCY7_uc002egb.1_Silent_p.P337P|ADCY7_uc002egc.1_Silent_p.P337P	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	337	Cytoplasmic (Potential).|Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGGGCCTGCCCGTGTCGCTGC	0.637		NaN											0	0	0	0.00632	0	28	39				
BRD7	29117	broad.mit.edu	37	16	50359717	50359717	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50359717C>T	uc002egf.1	-	12	1340	c.1273G>A	c.(1273-1275)GAT>AAT	p.D425N	BRD7_uc002ege.1_Missense_Mutation_p.D425N	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	425					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				AAATCAGAATCATCCTTGCTG	0.338		NaN											0	0	0	0.00308	0	8	32				
CNGB1	1258	broad.mit.edu	37	16	57918175	57918175	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:57918175C>T	uc002emt.2	-	33	3714	c.3649G>A	c.(3649-3651)GAG>AAG	p.E1217K	CNGB1_uc010cdh.2_Missense_Mutation_p.E1211K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1217	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						TCTTCGGGCTCGGCCGGCCCC	0.726		NaN											0	0	0	0.003271	0	34	28				
CTCF	10664	broad.mit.edu	37	16	67650746	67650746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67650746T>C	uc002etl.2	+	5	1341	c.1051T>C	c.(1051-1053)TTC>CTC	p.F351L	CTCF_uc010cek.2_Missense_Mutation_p.F23L	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	351	C2H2-type 4.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGAGAAGCCATTCAAGTGTTC	0.468		NaN											0	0	0	0.013726	0	31	143				
CENPT	80152	broad.mit.edu	37	16	67865747	67865747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67865747G>C	uc002eun.3	-	8	982	c.433C>G	c.(433-435)CCA>GCA	p.P145A	CENPT_uc002eum.3_Missense_Mutation_p.P145A|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.P42A	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	145					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCAGACCTGGAGCCAGGGTT	0.582		NaN											0	0	0	0.010729	0	12	31				
NIP7	51388	broad.mit.edu	37	16	69375197	69375197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69375197G>A	uc002exa.2	+	4	584	c.397G>A	c.(397-399)GTG>ATG	p.V133M	COG8_uc002ewy.2_5'Flank|COG8_uc002ewz.3_5'Flank|NIP7_uc002exb.2_Intron	NM_016101	NP_057185	Q9Y221	NIP7_HUMAN	nuclear import 7	133	PUA.				ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)	1		Ovarian(137;0.101)				GGGCGTGGTGGTGTACTCCAT	0.468		NaN											0	0	0	0.001855	0	12	23				
TERF2	7014	broad.mit.edu	37	16	69419544	69419544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69419544G>C	uc002exd.2	-	1	330	c.205C>G	c.(205-207)CGG>GGG	p.R69G	TERF2_uc002exe.2_Missense_Mutation_p.R69G	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	69	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				CGGCTACCCCGAAAGGCCCGC	0.582		NaN											0	0	0	0.009096	0	3	23				
USP10	9100	broad.mit.edu	37	16	84778354	84778354	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:84778354A>G	uc002fii.2	+	4	409	c.267A>G	c.(265-267)GAA>GAG	p.E89E	USP10_uc010voe.1_Silent_p.E93E|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	89	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AGGCCCCTGAATTTATTCTCG	0.493		NaN											0	0	0	0.013726	0	31	47				
APRT	353	broad.mit.edu	37	16	88877971	88877971	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:88877971G>A	uc002flv.2	-	2	209	c.174C>T	c.(172-174)ATC>ATT	p.I58I	APRT_uc002flw.2_Silent_p.I58I	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	58					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGATGTAGTCGATGCGGCCCC	0.721		NaN											0	0	0	0.001168	0	4	7				
MED11	400569	broad.mit.edu	37	17	4635097	4635097	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:4635097G>A	uc002fyp.2	+	2	174	c.112G>A	c.(112-114)GAA>AAA	p.E38K		NM_001001683	NP_001001683	Q9P086	MED11_HUMAN	mediator complex subunit 11	38					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding				0						ATTGTCCAAGGAAAAAACTAA	0.617		NaN									OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	12	18				
SLC16A13	201232	broad.mit.edu	37	17	6941694	6941694	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:6941694C>T	uc002geh.2	+	3	875	c.567C>T	c.(565-567)CTC>CTT	p.L189L		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	189	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						GTGCTCTCCTCCGCCCACCCT	0.657		NaN											0	0	0	0.012213	0	32	44				
SLC2A4	6517	broad.mit.edu	37	17	7187317	7187317	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7187317T>C	uc002gfp.2	+	5	673	c.473T>C	c.(472-474)ATG>ACG	p.M158T	SLC2A4_uc002gfo.2_Missense_Mutation_p.M158T|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	158	Helical; Name=4; (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						CTGGTGCCCATGTACGTGGGG	0.612		NaN											0	0	0	0.006214	0	10	14				
C17orf74	201243	broad.mit.edu	37	17	7329872	7329872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7329872G>T	uc002ggw.2	+	3	635	c.562G>T	c.(562-564)GAG>TAG	p.E188*	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	188						integral to membrane					0		Prostate(122;0.157)				CCTGGAGGAGGAGGACAACCT	0.592		NaN											1	0	9.72345e-25	0.01441	1.05429e-24	54	69				
TP53	7157	broad.mit.edu	37	17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7578269G>A	uc002gim.2	-	6	774	c.580C>T	c.(580-582)CTT>TTT	p.L194F	TP53_uc002gig.1_Missense_Mutation_p.L194F|TP53_uc002gih.2_Missense_Mutation_p.L194F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62F|TP53_uc010cng.1_Missense_Mutation_p.L62F|TP53_uc002gii.1_Missense_Mutation_p.L62F|TP53_uc010cnh.1_Missense_Mutation_p.L194F|TP53_uc010cni.1_Missense_Mutation_p.L194F|TP53_uc002gij.2_Missense_Mutation_p.L194F|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101F|TP53_uc002gio.2_Missense_Mutation_p.L62F|TP53_uc010vug.1_Missense_Mutation_p.L155F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194fs*14(1)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACTCGGATAAGATGCTGAGGA	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00245	0	13	18		Valid		
TMEM220	388335	broad.mit.edu	37	17	10628432	10628432	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:10628432A>G	uc002gmx.2	-	4	661	c.183T>C	c.(181-183)AGT>AGC	p.S61S	TMEM220_uc002gmy.2_Silent_p.S51S	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	61						integral to membrane					0						TTGCAGAGATACTTTTCCAAA	0.388		NaN											0	0	0	0.013537	0	12	16				
SREBF1	6720	broad.mit.edu	37	17	17716923	17716923	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:17716923A>G	uc002gru.1	-	17	3256	c.3062T>C	c.(3061-3063)CTG>CCG	p.L1021P	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.L640P|SREBF1_uc002grq.1_Missense_Mutation_p.L540P|SREBF1_uc002grr.1_Missense_Mutation_p.L767P|SREBF1_uc002grs.1_Missense_Mutation_p.L997P|SREBF1_uc002grt.1_Missense_Mutation_p.L1051P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	1021	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CAGCCGCCTCAGGCTGCTCAG	0.711		NaN											0	0	0	0.004672	0	2	5				
ULK2	9706	broad.mit.edu	37	17	19705182	19705182	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:19705182C>G	uc002gwm.3	-	16	1858	c.1349G>C	c.(1348-1350)GGA>GCA	p.G450A	ULK2_uc002gwn.2_Missense_Mutation_p.G450A	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	450					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGAGCATGATCCCGGCCGGAG	0.507		NaN											0	0	0	0.01441	0	73	83				
MYO18A	399687	broad.mit.edu	37	17	27493277	27493277	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:27493277T>C	uc002hdt.1	-	2	840	c.682A>G	c.(682-684)ACT>GCT	p.T228A	MYO18A_uc010csa.1_Missense_Mutation_p.T228A|MYO18A_uc002hdu.1_Missense_Mutation_p.T228A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	228	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCTCCAGTGGGCCGTCGT	0.667		NaN											0	0	0	0.013726	0	32	56				
NF1	4763	broad.mit.edu	37	17	29679408	29679408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:29679408C>T	uc002hgg.2	+	51	7924	c.7591C>T	c.(7591-7593)CAG>TAG	p.Q2531*	NF1_uc002hgh.2_Nonsense_Mutation_p.Q2510*|NF1_uc010cso.2_Nonsense_Mutation_p.Q719*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2531					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAACCTTCTCAGGCCAACAC	0.388		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.004482	0	8	29		Valid		
LIG3	3980	broad.mit.edu	37	17	33325294	33325294	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:33325294G>A	uc002hik.1	+	13	2076	c.1968G>A	c.(1966-1968)GGG>GGA	p.G656G	LIG3_uc002hij.2_Silent_p.G656G	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	656					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GATTGGAGGGGCTGGTGCTGA	0.562		NaN						Other_BER_factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	13	42				
DHRS11	79154	broad.mit.edu	37	17	34956152	34956152	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:34956152A>G	uc002hnd.2	+	5	849	c.635A>G	c.(634-636)AAG>AGG	p.K212R	MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	212						extracellular region	binding|oxidoreductase activity				0						CTCCACGACAAGGACCCTGAG	0.572		NaN											0	0	0	0.00278	0	22	41				
RARA	5914	broad.mit.edu	37	17	38510642	38510642	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:38510642A>G	uc002huk.1	+	7	1351	c.896A>G	c.(895-897)AAC>AGC	p.N299S	RARA_uc002hul.3_Missense_Mutation_p.N299S|RARA_uc010wfe.1_Missense_Mutation_p.N202S|RARA_uc002hun.1_Missense_Mutation_p.N294S	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	299	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGATGCACAACGCTGGCTTC	0.652		NaN	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								0	0	0	0.003163	0	15	71				
KRT33B	3884	broad.mit.edu	37	17	39521742	39521742	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:39521742C>T	uc002hwl.2	-	4	697	c.652G>A	c.(652-654)GCT>ACT	p.A218T		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	218	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				AGGTCCACAGCGGGAGCAGCG	0.562		NaN											0	0	0	0.00499	0	16	34				
MEOX1	4222	broad.mit.edu	37	17	41719371	41719371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:41719371C>G	uc002idz.2	-	3	701	c.672G>C	c.(670-672)ATG>ATC	p.M224I	MEOX1_uc002iea.2_Missense_Mutation_p.E167Q|MEOX1_uc002ieb.2_Missense_Mutation_p.M109I	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	224	Homeobox.					nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCTTCCACTTCATCCTTCGGT	0.582		NaN											0	0	0	0.012213	0	28	119				
GRN	2896	broad.mit.edu	37	17	42427117	42427117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42427117C>G	uc002igp.1	+	4	566	c.347C>G	c.(346-348)TCA>TGA	p.S116*	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	116					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAAAGATCAGGTGCAGCT	0.652		NaN											0	0	0	0.004672	0	3	20				
FMNL1	752	broad.mit.edu	37	17	43318986	43318986	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:43318986G>C	uc002iin.2	+	14	1770	c.1570G>C	c.(1570-1572)GGC>CGC	p.G524R	FMNL1_uc002iiq.2_Missense_Mutation_p.G102R|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	524	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GGTGCCGACCGGCTCCCCCAG	0.716		NaN											0	0	0	0.001168	0	4	5				
WNT9B	7484	broad.mit.edu	37	17	44954078	44954078	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:44954078G>A	uc002ikw.1	+	4	1105	c.1068G>A	c.(1066-1068)AAG>AAA	p.K356K	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	356					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCTGCAAGCACTAGGCCT	0.627		NaN											0	0	0	0.010729	0	12	31				
NPEPPS	9520	broad.mit.edu	37	17	45689897	45689897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:45689897G>A	uc002ilr.3	+	18	2390	c.2167G>A	c.(2167-2169)GAA>AAA	p.E723K	NPEPPS_uc010wkt.1_Missense_Mutation_p.E719K|NPEPPS_uc010wku.1_Missense_Mutation_p.E687K|NPEPPS_uc010wkv.1_Missense_Mutation_p.E277K|NPEPPS_uc002ils.1_Missense_Mutation_p.E156K	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	723					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0						GGCAACGTTAGAAGAAGCCCG	0.458		NaN											0	0	0	0.00499	0	16	55				
SNX11	29916	broad.mit.edu	37	17	46189426	46189426	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46189426G>A	uc002inf.1	+	3	375	c.21G>A	c.(19-21)ATG>ATA	p.M7I	SNX11_uc010wlg.1_5'UTR|SNX11_uc010wlh.1_5'UTR|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.M7I|SNX11_uc002inh.1_Missense_Mutation_p.M7I	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	7					cell communication|protein transport	membrane	phosphatidylinositol binding				0						GGTGTAGGATGTCGGAGAACC	0.458		NaN											0	0	0	0.013537	0	12	51				
HOXB8	3218	broad.mit.edu	37	17	46690570	46690570	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46690570C>T	uc002inw.2	-	2	961	c.726G>A	c.(724-726)AAG>AAA	p.K242K	HOXB7_uc002inv.2_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGCCTACTTCTTGTCGCCCT	0.468		NaN											0	0	0	0.007413	0	16	83				
SNF8	11267	broad.mit.edu	37	17	47013602	47013602	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47013602G>A	uc002ioj.2	-	5	410	c.352C>T	c.(352-354)CTG>TTG	p.L118L	SNF8_uc002iok.2_Silent_p.L118L	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	118					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding				0						AAAGTTATCAGACCTGTTTGG	0.428		NaN											0	0	0	0.009096	0	3	24				
PHB	5245	broad.mit.edu	37	17	47486813	47486813	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47486813T>C	uc002iox.1	-	4	346	c.273A>G	c.(271-273)ACA>ACG	p.T91T		NM_002634	NP_002625	P35232	PHB_HUMAN	prohibitin	91					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding				0	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGATGCGCAGTGTGATGTTGA	0.448		NaN											0	0	0	0.00632	0	26	55				
EME1	146956	broad.mit.edu	37	17	48450605	48450605	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:48450605G>A	uc002iqs.1	+	1	16	c.-57G>A	c.(-59--55)GCGTG>GCATG		MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1						DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CGGGCCCTGCGTGGCAGTTGA	0.597		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.009096	0	4	4				
CUEDC1	404093	broad.mit.edu	37	17	55950043	55950043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:55950043G>A	uc002ivd.1	-	5	1484	c.765C>T	c.(763-765)TTC>TTT	p.F255F	CUEDC1_uc002ive.1_Silent_p.F255F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	255										skin(2)	2						GAGCGAGGAGGAAGTCGCGGT	0.597		NaN											0	0	0	0.001168	0	5	37				
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56774148G>A	uc002iwu.2	+	3	541	c.499G>A	c.(499-501)GAT>AAT	p.D167N	RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	167					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				0	0	0	0.008361	0	29	42				
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56780655T>C	uc002iwu.2	+	4	712	c.670T>C	c.(670-672)TAT>CAT	p.Y224H	RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	224					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				0	0	0	0.003954	0	24	42				
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:57181659T>C	uc002iwy.3	-	2	562	c.118A>G	c.(118-120)ATT>GTT	p.I40V	TRIM37_uc002iwz.3_Missense_Mutation_p.I40V|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	40	RING-type; degenerate.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353		NaN							Mulibrey_Nanism				0	0	0	0.004482	0	8	26				
KCNH6	81033	broad.mit.edu	37	17	61615788	61615788	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:61615788C>T	uc002jay.2	+	8	1799	c.1719C>T	c.(1717-1719)CCC>CCT	p.P573P	KCNH6_uc010wpl.1_Silent_p.P450P|KCNH6_uc010wpm.1_Silent_p.P573P|KCNH6_uc002jaz.1_Silent_p.P520P	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	573	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGGGCTTCCCCGAGTGCCTGC	0.731		NaN											0	0	0	0.008291	0	8	13				
POLG2	11232	broad.mit.edu	37	17	62493064	62493064	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:62493064C>T	uc002jei.2	-	1	106	c.23G>A	c.(22-24)AGG>AAG	p.R8K	POLG2_uc010deg.1_Missense_Mutation_p.R8K	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	8					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATGGCAGGCCCTGACGGCTAC	0.567		NaN											0	0	0	0.006122	0	16	53				
BTBD17	388419	broad.mit.edu	37	17	72352856	72352856	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72352856G>T	uc002jkn.2	-	3	1377	c.1377C>A	c.(1375-1377)GCC>GCA	p.A459A		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	459						extracellular region					0						GCAGGTGCAGGGCGTTCTCAA	0.647		NaN											1	0	2.98393e-07	0.00278	3.13295e-07	20	72				
GRIN2C	2905	broad.mit.edu	37	17	72848655	72848655	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72848655G>A	uc002jlt.1	-	3	651	c.495C>T	c.(493-495)TTC>TTT	p.F165F	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F165F|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	165	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGATGACGGCGAAGGCGCTCC	0.701		NaN											0	0	0	0.004482	0	6	17				
CASKIN2	57513	broad.mit.edu	37	17	73498946	73498946	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73498946C>G	uc002joc.2	-	18	2759	c.2209G>C	c.(2209-2211)GAG>CAG	p.E737Q	CASKIN2_uc010wsc.1_Missense_Mutation_p.E655Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	737	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCGCTCTGTGCCCTCT	0.657		NaN											0	0	0	0.000602	0	4	27				
TSEN54	283989	broad.mit.edu	37	17	73515107	73515107	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73515107T>C	uc002jof.1	+	6	533	c.500T>C	c.(499-501)GTG>GCG	p.V167A	TSEN54_uc002joe.1_Silent_p.C164C	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	167					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGTTATGTGGTTCGACGA	0.453		NaN											0	0	0	0.01441	0	43	72				
UNK	85451	broad.mit.edu	37	17	73813469	73813469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73813469C>T	uc002jpm.2	+	10	1395	c.1395C>T	c.(1393-1395)TCC>TCT	p.S465S		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	389							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGGGCTCCATCAGGAAGC	0.657		NaN											0	0	0	0.00278	0	20	83				
QRICH2	84074	broad.mit.edu	37	17	74288992	74288992	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:74288992C>A	uc002jrd.1	-	4	1498	c.1318G>T	c.(1318-1320)GAT>TAT	p.D440Y	QRICH2_uc010wsz.1_Missense_Mutation_p.D366Y|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	440	Gln-rich.						protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						ccagactgatccattccaggc	0.119		NaN											1	0	0.000442599	0.006214	0.000456911	9	20				
TMC8	147138	broad.mit.edu	37	17	76134245	76134245	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76134245C>T	uc002jup.2	+	12	1891	c.1509C>T	c.(1507-1509)CTC>CTT	p.L503L	TMC8_uc002juq.2_Silent_p.L280L|TMC8_uc010wtr.1_3'UTR|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	503	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGTCTTCCTCTTCCTCACCT	0.617		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.00245	0	13	66				
DNAH17	8632	broad.mit.edu	37	17	76430168	76430168	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76430168T>C	uc010dhp.1	-	20	3389	c.3167A>G	c.(3166-3168)AAC>AGC	p.N1056S	DNAH17_uc002jvq.2_Missense_Mutation_p.N341S|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGTCCCCGTTGTTGAAGGG	0.567		NaN											0	0	0	0.013726	0	30	126				
SLC38A10	124565	broad.mit.edu	37	17	79220205	79220205	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79220205C>T	uc002jzz.1	-	16	2886	c.2511G>A	c.(2509-2511)CAG>CAA	p.Q837Q	SLC38A10_uc002jzy.1_Silent_p.Q755Q	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	837					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGCATCCTTCTGGCCATCTC	0.716		NaN											0	0	0	0.00308	0	7	25				
SLC38A10	124565	broad.mit.edu	37	17	79257211	79257211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79257211G>A	uc002jzz.1	-	4	730	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	SLC38A10_uc002jzy.1_Nonsense_Mutation_p.Q37*|SLC38A10_uc002kab.2_Nonsense_Mutation_p.Q119*	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	119					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCCTTACCTGAAACCCGAAC	0.602		NaN											0	0	0	0.008291	0	9	12				
ASPSCR1	79058	broad.mit.edu	37	17	79954451	79954451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79954451C>T	uc002kcx.2	+	7	759	c.662C>T	c.(661-663)TCA>TTA	p.S221L	ASPSCR1_uc002kcw.1_Missense_Mutation_p.S221L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.S221L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.S144L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.S144L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	221							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGACACCTCAGGGCCCTGC	0.682		NaN	T	TFE3	alveolar soft part sarcoma								0	0	0	0.001168	0	6	23				
TBCD	6904	broad.mit.edu	37	17	80899327	80899327	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:80899327C>T	uc002kfz.2	+	38	3662	c.3532C>T	c.(3532-3534)CTG>TTG	p.L1178L	TBCD_uc002kfy.1_Silent_p.L1216L|TBCD_uc002kgc.2_Silent_p.L297L|TBCD_uc002kgd.2_Silent_p.L170L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	1178					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTGTGACCTTCTGGGCGTACC	0.627		NaN											0	0	0	0.004672	0	3	8				
YES1	7525	broad.mit.edu	37	18	724590	724590	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:724590T>C	uc002kky.2	-	12	1687	c.1466A>G	c.(1465-1467)TAC>TGC	p.Y489C	YES1_uc002kkz.2_Missense_Mutation_p.Y489C	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	489	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	CGGCATCCTGTATCCTCGCTC	0.413		NaN											0	0	0	0.00278	0	23	58				
SMCHD1	23347	broad.mit.edu	37	18	2750410	2750410	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:2750410T>C	uc002klm.3	+	32	4259	c.4070T>C	c.(4069-4071)ATT>ACT	p.I1357T	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1357					chromosome organization		ATP binding				0						GGACCTATAATTAAGTTAATG	0.383		NaN											0	0	0	0.010729	0	11	29				
AFG3L2	10939	broad.mit.edu	37	18	12337383	12337383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:12337383C>G	uc002kqz.1	-	16	2245	c.2132G>C	c.(2131-2133)AGA>ACA	p.R711T		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	711					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	AGCTACTGTTCTTTTATAAGC	0.393		NaN											0	0	0	0.00333	0	22	38				
POTEC	388468	broad.mit.edu	37	18	14534973	14534973	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:14534973C>T	uc010dln.2	-	4	1298	c.844G>A	c.(844-846)GAA>AAA	p.E282K	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	282	ANK 5.									skin(3)	3						TGTTTTTGTTCATGTACGCCA	0.303		NaN											0	0	0	0.006214	0	5	56				
C18orf8	29919	broad.mit.edu	37	18	21084405	21084405	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21084405C>G	uc010xax.1	+	2	294	c.173C>G	c.(172-174)TCA>TGA	p.S58*	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Nonsense_Mutation_p.S58*|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	58										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AATCCCATCTCATTTAGGTAA	0.378		NaN											0	0	0	0.013726	0	29	83				
NPC1	4864	broad.mit.edu	37	18	21148963	21148963	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21148963C>T	uc002kum.3	-	4	562	c.288_splice	c.e4-1	p.R96_splice	NPC1_uc010xba.1_Splice_Site	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGATGGACATCTAAAGGAAAA	0.338		NaN											0	0	0	0.00308	0	6	16				
ZNF521	25925	broad.mit.edu	37	18	22805190	22805190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:22805190C>A	uc002kvk.2	-	4	2939	c.2692G>T	c.(2692-2694)GAA>TAA	p.E898*	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E898*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E678*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	898	C2H2-type 21; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCAAAGTTTCCATAGTGTAG	0.502		NaN	T	PAX5	ALL								1	0	1.75199e-13	0.007291	1.88071e-13	29	35				
KIAA1012	22878	broad.mit.edu	37	18	29419397	29419397	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:29419397C>G	uc002kxc.3	-	27	4225	c.3861G>C	c.(3859-3861)TTG>TTC	p.L1287F	KIAA1012_uc002kxb.3_Missense_Mutation_p.L1233F|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1287					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						TGAAAAATTTCAATAGTTCCA	0.328		NaN											0	0	0	0.001855	0	13	44				
KATNAL2	83473	broad.mit.edu	37	18	44595908	44595908	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:44595908C>T	uc002lco.2	+	10	923	c.729C>T	c.(727-729)TTC>TTT	p.F243F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.F170F	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	315						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AAACAACCTTCTTTAACATTT	0.378		NaN											0	0	0	0.004007	0	16	49				
C19orf35	374872	broad.mit.edu	37	19	2276228	2276228	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:2276228G>A	uc002lvn.2	-	4	973	c.873C>T	c.(871-873)GCC>GCT	p.A291A	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	291										pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACTTCAGGGCCGCGCTCA	0.726		NaN											0	0	0	0.001168	0	6	3				
GTF2F1	2962	broad.mit.edu	37	19	6381161	6381161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:6381161C>T	uc002meq.2	-	10	1349	c.1064G>A	c.(1063-1065)AGC>AAC	p.S355N	GTF2F1_uc010xjb.1_Missense_Mutation_p.S176N|GTF2F1_uc010xjc.1_Missense_Mutation_p.S270N	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	355					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						GGAGGCCTCGCTGTCAATGTC	0.677		NaN											0	0	0	0.00308	0	7	7				
TIMM44	10469	broad.mit.edu	37	19	7992108	7992108	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:7992108C>T	uc002miz.2	-	13	1325	c.1323G>A	c.(1321-1323)CTG>CTA	p.L441L	TIMM44_uc002mja.2_Silent_p.L181L|CTXN1_uc002miy.3_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	441					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CCGAGATGTCCAGGAGCCGCC	0.672		NaN											0	0	0	0.007413	0	19	21				
MUC16	94025	broad.mit.edu	37	19	9057298	9057298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:9057298C>T	uc002mkp.2	-	3	30352	c.30148G>A	c.(30148-30150)GTG>ATG	p.V10050M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10052	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTGAAGTCACAGAAAAAGAG	0.463		NaN											0	0	0	0.004007	0	16	24				
MAN2B1	4125	broad.mit.edu	37	19	12758381	12758381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12758381G>A	uc002mub.2	-	22	2772	c.2696C>T	c.(2695-2697)TCG>TTG	p.S899L	MAN2B1_uc010dyv.1_Missense_Mutation_p.S898L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CAGGTGCACCGAGGGCGGCAG	0.692		NaN											0	0	0	0.007291	0	27	23				
TNPO2	30000	broad.mit.edu	37	19	12825962	12825962	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12825962C>T	uc002muo.2	-	8	855	c.670G>A	c.(670-672)GAT>AAT	p.D224N	TNPO2_uc002mup.2_Missense_Mutation_p.D316N|TNPO2_uc002muq.2_Missense_Mutation_p.D224N|TNPO2_uc002mur.2_Missense_Mutation_p.D224N	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	224	HEAT 3.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGGTCATCATCCACAGCCAGG	0.622		NaN											0	0	0	0.00278	0	18	27				
RASAL3	64926	broad.mit.edu	37	19	15562677	15562677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15562677G>A	uc002nbe.2	-	18	3051	c.2965C>T	c.(2965-2967)CCA>TCA	p.P989S	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.P403S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	989					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0						CGCGTCCTTGGAGAAAGCTGC	0.602		NaN											0	0	0	0.007291	0	31	24				
NDUFA13	51079	broad.mit.edu	37	19	19626839	19626839	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:19626839G>C	uc010xqy.1	+	1	300	c.41G>C	c.(40-42)AGA>ACA	p.R14T	TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Missense_Mutation_p.R14T|NDUFA13_uc010xqx.1_Missense_Mutation_p.R14T	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	CTGGGCAAAAGAGGAGTAAAG	0.612		NaN											0	0	0	0.006122	0	18	20				
RYR1	6261	broad.mit.edu	37	19	39068655	39068655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:39068655G>A	uc002oit.2	+	98	14400	c.14270G>A	c.(14269-14271)CGC>CAC	p.R4757H	RYR1_uc002oiu.2_Missense_Mutation_p.R4752H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4757					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACAATGAGCGCAAGCCCAAC	0.632		NaN											0	0	0	0.004007	0	14	27				
FCGBP	8857	broad.mit.edu	37	19	40366091	40366091	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:40366091A>G	uc002omp.3	-	30	14151	c.14143T>C	c.(14143-14145)TAC>CAC	p.Y4715H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4715						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGCCACGTAGGTAGCCACT	0.662		NaN											0	0	0	0.010771	0	42	20				
SHKBP1	92799	broad.mit.edu	37	19	41096303	41096303	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41096303C>T	uc002oob.2	+	16	1792	c.1743C>T	c.(1741-1743)GCC>GCT	p.A581A	SHKBP1_uc002ooc.2_Silent_p.A556A|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Silent_p.A504A|SHKBP1_uc002ooe.2_Silent_p.A418A|SHKBP1_uc002oof.2_Silent_p.A418A|SHKBP1_uc010xvm.1_Silent_p.A361A|SHKBP1_uc010xvn.1_Silent_p.A459A|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	581	WD 5.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAACCACCGCCATGGACGGCC	0.697		NaN											0	0	0	0.003954	0	23	12				
CNFN	84518	broad.mit.edu	37	19	42891312	42891312	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:42891312C>T	uc002otp.3	-	4	387	c.332G>A	c.(331-333)CGA>CAA	p.R111Q	CNFN_uc002otq.3_Missense_Mutation_p.R124Q	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN	cornifelin	111					keratinization	cornified envelope|cytoplasm					0		Prostate(69;0.00899)				TCCTTACTCTCGGATCTTCAG	0.637		NaN											0	0	0	0.010504	0	18	16				
ZNF226	7769	broad.mit.edu	37	19	44680458	44680458	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:44680458C>T	uc002oyp.2	+	6	1187	c.1043C>T	c.(1042-1044)TCA>TTA	p.S348L	ZNF226_uc002oyq.2_Missense_Mutation_p.S231L|ZNF226_uc002oyr.2_Missense_Mutation_p.S231L|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S348L|ZNF226_uc002oyt.2_Missense_Mutation_p.S348L	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	348	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGTCGTAGATCAGCACTTAAT	0.468		NaN											0	0	0	0.009718	0	43	28				
CLPTM1	1209	broad.mit.edu	37	19	45477814	45477814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477814A>G	uc002pai.2	+	4	443	c.428A>G	c.(427-429)GAC>GGC	p.D143G	CLPTM1_uc010ejv.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxf.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxg.1_Missense_Mutation_p.D129G	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	143	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGAACTCAGACGGCTGCTAC	0.567		NaN											0	0	0	0.003271	0	33	27				
CLPTM1	1209	broad.mit.edu	37	19	45477816	45477816	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477816G>A	uc002pai.2	+	4	445	c.430G>A	c.(430-432)GGC>AGC	p.G144S	CLPTM1_uc010ejv.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxf.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxg.1_Missense_Mutation_p.G130S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	144	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAACTCAGACGGCTGCTACGA	0.572		NaN											0	0	0	0.013726	0	32	27				
NUCB1	4924	broad.mit.edu	37	19	49422510	49422510	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:49422510G>T	uc002plb.3	+	10	1041	c.969G>T	c.(967-969)AGG>AGT	p.R323S	NUCB1_uc002pla.2_Missense_Mutation_p.R323S|NUCB1_uc002plc.2_Missense_Mutation_p.R323S|NUCB1_uc002pld.2_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	323	EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCACTCAGAGGAAGGAGTTTG	0.602		NaN											1	0	1.58986e-06	0.008291	1.66318e-06	7	65				
TSKS	60385	broad.mit.edu	37	19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:50243365C>T	uc002ppm.2	-	10	1584	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	525							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632		NaN											0	0	0	0.01441	0	68	35				
NLRP2	55655	broad.mit.edu	37	19	55493759	55493759	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:55493759A>G	uc002qij.2	+	6	779	c.693A>G	c.(691-693)GCA>GCG	p.A231A	NLRP2_uc010yfp.1_Silent_p.A208A|NLRP2_uc010esn.2_Silent_p.A207A|NLRP2_uc010eso.2_Silent_p.A228A|NLRP2_uc010esp.2_Silent_p.A209A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	231	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAGACTGGGCAGAGGACAACC	0.577		NaN											0	0	0	0.009535	0	29	17				
ZNF418	147686	broad.mit.edu	37	19	58441801	58441801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58441801G>A	uc002qqs.1	-	3	420	c.128C>T	c.(127-129)TCC>TTC	p.S43F	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTTACCCAGGGAGGATATAAG	0.488		NaN											0	0	0	0.01441	0	70	47				
ZNF606	80095	broad.mit.edu	37	19	58489802	58489802	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58489802G>A	uc002qqw.2	-	7	2864	c.2246C>T	c.(2245-2247)TCT>TTT	p.S749F	ZNF606_uc010yhp.1_Missense_Mutation_p.S659F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	749	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAAGGGAAGAATTCTTACA	0.373		NaN											0	0	0	0.01441	0	73	32				
SNTG2	54221	broad.mit.edu	37	2	1133464	1133464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:1133464T>C	uc002qwq.2	+	6	508	c.380T>C	c.(379-381)ATA>ACA	p.I127T	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	127	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTAATGGCATACATGTAGAA	0.269		NaN											0	0	0	0.00632	0	26	45				
ALLC	55821	broad.mit.edu	37	2	3730543	3730543	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:3730543C>T	uc010ewt.2	+	7	551	c.390C>T	c.(388-390)GAC>GAT	p.D130D		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	149							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TAAAATCCGACGACTGGAGTT	0.428		NaN								HNSCC(21;0.051)			0	0	0	0.008361	0	30	96				
FAM84A	151354	broad.mit.edu	37	2	14774914	14774914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:14774914C>T	uc002rbz.1	+	2	1053	c.811C>T	c.(811-813)CGT>TGT	p.R271C	FAM84A_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	271										pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAGAAGCGCCGTATCGACGC	0.667		NaN											0	0	0	0.001168	0	5	30				
MYCN	4613	broad.mit.edu	37	2	16082291	16082291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:16082291C>T	uc002rci.2	+	2	405	c.105C>T	c.(103-105)TTC>TTT	p.F35F	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.F27F	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	35					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAGATGACTTCTACTTCGGCG	0.647		NaN	A		neuroblastoma								0	0	0	0.006122	0	16	36				
RAD51AP2	729475	broad.mit.edu	37	2	17697834	17697834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:17697834A>G	uc002rcl.1	-	1	1873	c.1849T>C	c.(1849-1851)TAT>CAT	p.Y617H	RAD51AP2_uc010exn.1_Missense_Mutation_p.Y608H	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	617										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTTGGATACTTCAAATAA	0.269		NaN											0	0	0	0.00308	0	8	9				
PUM2	23369	broad.mit.edu	37	2	20455083	20455083	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:20455083T>G	uc002rds.1	-	17	2665	c.2642A>C	c.(2641-2643)CAT>CCT	p.H881P	PUM2_uc002rdq.1_Missense_Mutation_p.H260P|PUM2_uc002rdt.1_Missense_Mutation_p.H881P|PUM2_uc002rdr.2_Missense_Mutation_p.H741P|PUM2_uc010yjy.1_Missense_Mutation_p.H802P|PUM2_uc002rdu.1_Missense_Mutation_p.H881P|PUM2_uc010yjz.1_Missense_Mutation_p.H820P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	883	Pumilio 5.|PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATAAGGATGAGTTGAAAG	0.383		NaN											0	0	0	0.00245	0	14	26				
NCOA1	8648	broad.mit.edu	37	2	24905860	24905860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:24905860G>A	uc002rfk.2	+	6	653	c.395G>A	c.(394-396)AGA>AAA	p.R132K	NCOA1_uc010eye.2_Missense_Mutation_p.R132K|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.R132K|NCOA1_uc002rfl.2_Missense_Mutation_p.R132K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	132	PAS.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAAGGGAGAATTGTATTT	0.368		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.013726	0	32	50				
DTNB	1838	broad.mit.edu	37	2	25851188	25851188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:25851188G>A	uc002rgh.2	-	4	464	c.214C>T	c.(214-216)CAT>TAT	p.H72Y	DTNB_uc010yko.1_Missense_Mutation_p.H15Y|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_Intron|DTNB_uc002rgi.2_Missense_Mutation_p.H72Y|DTNB_uc002rgj.2_Missense_Mutation_p.H72Y|DTNB_uc002rgk.2_Missense_Mutation_p.H72Y|DTNB_uc002rgl.2_Missense_Mutation_p.H72Y|DTNB_uc002rgq.2_Missense_Mutation_p.H72Y|DTNB_uc002rgm.2_Missense_Mutation_p.H72Y|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.H61Y|DTNB_uc010ykq.1_5'UTR	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	72						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGTGGTATGGTCCAGTGTA	0.418		NaN											0	0	0	0.010729	0	12	34				
OTOF	9381	broad.mit.edu	37	2	26703759	26703759	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26703759C>G	uc002rhk.2	-	15	1825	c.1698G>C	c.(1696-1698)CGG>CGC	p.R566R	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	566	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCGGGCCCGGAAGGACA	0.642		NaN											0	0	0	0.003954	0	25	41				
OTOF	9381	broad.mit.edu	37	2	26739468	26739468	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26739468C>G	uc002rhk.2	-	5	455	c.328_splice	c.e5-1	p.T110_splice	OTOF_uc010ylb.1_Splice_Site	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGCTGGTCTGAAGGGAGG	0.537		NaN											0	0	0	0.006214	0	10	82				
PREB	10113	broad.mit.edu	37	2	27355129	27355129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27355129C>T	uc002rix.1	-	6	1148	c.895G>A	c.(895-897)GGC>AGC	p.G299S	PREB_uc002riy.1_Missense_Mutation_p.G227S|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	299	Cytoplasmic (Potential).|WD 3.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCATGGCCACAGGACTTG	0.612		NaN											0	0	0	0.003163	0	15	136				
CAD	790	broad.mit.edu	37	2	27440858	27440858	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27440858G>A	uc002rji.2	+	2	358	c.196G>A	c.(196-198)GAA>AAA	p.E66K	CAD_uc010eyw.2_Missense_Mutation_p.E66K	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	66	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCCCCAGATGAAATGGATGA	0.502		NaN											0	0	0	0.00499	0	17	59				
CAD	790	broad.mit.edu	37	2	27449800	27449800	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27449800A>G	uc002rji.2	+	15	2419	c.2257A>G	c.(2257-2259)ACA>GCA	p.T753A	CAD_uc010eyw.2_Missense_Mutation_p.T690A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	753	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGAGTCAGCACAAAGATTGG	0.532		NaN											0	0	0	0.01441	0	44	97				
LCLAT1	253558	broad.mit.edu	37	2	30790955	30790955	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:30790955G>C	uc002rnj.2	+	6	864	c.655G>C	c.(655-657)GCT>CCT	p.A219P	LCLAT1_uc010ymp.1_Missense_Mutation_p.A57P|LCLAT1_uc002rnk.1_Missense_Mutation_p.A219P|LCLAT1_uc002rnl.2_Missense_Mutation_p.A181P|LCLAT1_uc010ymq.1_Missense_Mutation_p.A181P	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	219					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						TAATGCATTTGCTGAAAAAAA	0.343		NaN											0	0	0	0.005443	0	25	46				
GALM	130589	broad.mit.edu	37	2	38956810	38956810	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38956810G>A	uc002rqy.2	+	5	999	c.747G>A	c.(745-747)AAG>AAA	p.K249K		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	249					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				TCTGTCTGAAGGGATCTAAAG	0.438		NaN											0	0	0	0.008361	0	29	74				
GALM	130589	broad.mit.edu	37	2	38958959	38958959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38958959G>A	uc002rqy.2	+	6	1111	c.859G>A	c.(859-861)GAT>AAT	p.D287N		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	287					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				CAACTTCCTGGATGGCACATT	0.527		NaN											0	0	0	0.010818	0	31	66				
MAP4K3	8491	broad.mit.edu	37	2	39664039	39664039	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:39664039G>A	uc002rro.2	-	1	181	c.90C>T	c.(88-90)GTC>GTT	p.V30V	MAP4K3_uc002rrp.2_Silent_p.V30V|uc002rrq.2_Intron|uc002rrr.1_5'Flank	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	30	Protein kinase.|ATP (By similarity).				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TTACCTTGTAGACGTCGCCGT	0.701		NaN											0	0	0	0.004482	0	8	14				
C2orf61	285051	broad.mit.edu	37	2	47378469	47378469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:47378469C>T	uc002rvs.2	-	3	454	c.327G>A	c.(325-327)AAG>AAA	p.K109K	C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.K109K	NM_173649	NP_775920	Q8N801	CB061_HUMAN	hypothetical protein LOC285051 isoform 2	109								p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACTTGCTTCTTTAACAGGT	0.453		NaN											0	0	0	0.012213	0	32	72				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848387	48848387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:48848387C>T	uc010yol.1	+	4	2364	c.2317C>T	c.(2317-2319)CAG>TAG	p.Q773*	STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.Q773*|GTF2A1L_uc002rws.1_Nonsense_Mutation_p.Q69*|GTF2A1L_uc010yom.1_Nonsense_Mutation_p.Q35*|GTF2A1L_uc002rwt.2_Nonsense_Mutation_p.Q69*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	773					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTACTCTTCAGTTGCCGCA	0.408		NaN											0	0	0	0.003163	0	15	27				
NRXN1	9378	broad.mit.edu	37	2	50850596	50850596	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:50850596A>G	uc010fbq.2	-	6	2566	c.1089T>C	c.(1087-1089)TAT>TAC	p.Y363Y	NRXN1_uc002rxb.3_Silent_p.Y10Y|NRXN1_uc002rxe.3_Silent_p.Y330Y|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	142	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAAGATTGACATAATCAGCCG	0.433		NaN											0	0	0	0.01441	0	59	100				
FAM161A	84140	broad.mit.edu	37	2	62067514	62067514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:62067514C>T	uc010ypo.1	-	3	727	c.625G>A	c.(625-627)GAG>AAG	p.E209K	FAM161A_uc002sbm.3_Missense_Mutation_p.E209K|FAM161A_uc002sbn.3_Missense_Mutation_p.E19K|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.E100K	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	209					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						ATATAATCCTCAACACAAAAG	0.408		NaN											0	0	0	0.007413	0	17	106				
OTX1	5013	broad.mit.edu	37	2	63283050	63283050	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:63283050C>A	uc002scd.2	+	5	912	c.664C>A	c.(664-666)CCC>ACC	p.P222T	OTX1_uc010ypt.1_Missense_Mutation_p.P156T	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	222						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCCTCTTATCCCATGTCCTA	0.662		NaN											1	0	2.94398e-08	0.007413	3.09477e-08	20	36				
MEIS1	4211	broad.mit.edu	37	2	66664922	66664922	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:66664922G>A	uc002sdu.2	+	2	523	c.66G>A	c.(64-66)ACG>ACA	p.T22T	MEIS1_uc002sdt.2_Silent_p.T22T|MEIS1_uc002sdv.2_Silent_p.T20T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_5'Flank|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	22							sequence-specific DNA binding transcription factor activity				0						TCCCCTCCACGATGTATGGGG	0.602		NaN											0	0	0	0.004007	0	14	37				
ETAA1	54465	broad.mit.edu	37	2	67630885	67630885	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630885G>A	uc002sdz.1	+	5	1210	c.1071G>A	c.(1069-1071)GTG>GTA	p.V357V		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	357						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						AATCATGTGTGACTTCCTGTA	0.353		NaN											0	0	0	0.00278	0	22	27				
ETAA1	54465	broad.mit.edu	37	2	67630955	67630955	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630955G>A	uc002sdz.1	+	5	1280	c.1141G>A	c.(1141-1143)GAT>AAT	p.D381N		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	381						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						TGATTTTGAGGATGATTGGGA	0.363		NaN											0	0	0	0.008361	0	28	46				
PCBP1	5093	broad.mit.edu	37	2	70315790	70315790	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:70315790C>T	uc002sgf.2	+	1	1206	c.915C>T	c.(913-915)ATC>ATT	p.I305I	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	305	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						TTAATGAGATCCGCCAGATGT	0.502		NaN											0	0	0	0.00333	0	25	39				
HTRA2	27429	broad.mit.edu	37	2	74757805	74757805	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:74757805G>A	uc002smi.1	+	2	1170	c.568G>A	c.(568-570)GAT>AAT	p.D190N	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.D190N|HTRA2_uc002smk.1_Missense_Mutation_p.D190N|HTRA2_uc002sml.1_Missense_Mutation_p.D190N|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	190	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GGTGGCTGCCGATGGGCTCAT	0.592		NaN											0	0	0	0.012319	0	22	50				
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:77745831G>T	uc002snr.2	-	3	1579	c.1164C>A	c.(1162-1164)ACC>ACA	p.T388T	LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473		NaN											1	0	6.72482e-11	0.003163	7.18314e-11	14	44				
CAPG	822	broad.mit.edu	37	2	85629268	85629268	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:85629268T>C	uc002spl.1	-	2	251	c.1A>G	c.(1-3)ATG>GTG	p.M1V	CAPG_uc002spm.1_Missense_Mutation_p.M1V|CAPG_uc010ysq.1_Missense_Mutation_p.M1V|CAPG_uc010fgi.1_Missense_Mutation_p.M1V|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	1					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						GCTGTGTACATGCTGTCTTCA	0.522		NaN											0	0	0	0.004482	0	6	6				
SMYD1	150572	broad.mit.edu	37	2	88402598	88402598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:88402598G>A	uc002ssr.2	+	7	912	c.910G>A	c.(910-912)GAG>AAG	p.E304K	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						AGTGGTGAAGGAGATGATACA	0.443		NaN											0	0	0	0.005443	0	25	49				
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:103380863C>G	uc010fjb.2	+	3	495	c.308C>G	c.(307-309)TCG>TGG	p.S103W	TMEM182_uc002tcc.3_Missense_Mutation_p.S60W|TMEM182_uc002tcd.3_Missense_Mutation_p.S7W	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor	103	Extracellular (Potential).					integral to membrane					0						GAGCACAACTCGACCTCCTAT	0.483		NaN											0	0	0	0.006999	0	38	63				
ANKRD57	65124	broad.mit.edu	37	2	110373335	110373335	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:110373335C>T	uc002tfb.2	+	1	1425	c.1269C>T	c.(1267-1269)CTC>CTT	p.L423L	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	423											0						CCTCGCATCTCATCACCTACA	0.627		NaN											0	0	0	0.003954	0	23	38				
IL1A	3552	broad.mit.edu	37	2	113532667	113532667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:113532667G>A	uc002tig.2	-	7	1753	c.793C>T	c.(793-795)CAG>TAG	p.Q265*		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	265					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						TCCAGTATCTGAAAGTCAGTG	0.458		NaN											0	0	0	0.007413	0	18	42				
BIN1	274	broad.mit.edu	37	2	127834283	127834283	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:127834283C>T	uc002tns.1	-	2	430	c.85_splice	c.e2-1	p.V29_splice	BIN1_uc010yzf.1_Splice_Site_p.V5_splice|BIN1_uc010yzg.1_Splice_Site_p.V29_splice|BIN1_uc002tnu.1_Splice_Site_p.V29_splice|BIN1_uc002toa.1_Splice_Site_p.V29_splice|BIN1_uc002tnt.1_Splice_Site_p.V29_splice|BIN1_uc002tnv.1_Splice_Site_p.V29_splice|BIN1_uc002tnw.1_Splice_Site_p.V29_splice|BIN1_uc002tnx.1_Splice_Site_p.V29_splice|BIN1_uc002tny.1_Splice_Site_p.V29_splice|BIN1_uc002tnz.1_Splice_Site_p.V29_splice|BIN1_uc002tob.1_Splice_Site_p.V29_splice|BIN1_uc002toc.1_Splice_Site_p.V29_splice	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTGGAGAACCTGCCGAAGCC	0.547		NaN											0	0	0	0.01441	0	51	79				
MAP3K2	10746	broad.mit.edu	37	2	128093472	128093472	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:128093472T>C	uc002toj.1	-	4	303	c.238A>G	c.(238-240)ATG>GTG	p.M80V	MAP3K2_uc010flz.1_Missense_Mutation_p.M80V	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	80	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTAGATCCATAGACTGTCCA	0.323		NaN											0	0	0	0.009096	0	3	4				
NCKAP5	344148	broad.mit.edu	37	2	133486457	133486457	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:133486457C>G	uc002ttp.2	-	18	5886	c.5512G>C	c.(5512-5514)GCT>CCT	p.A1838P	NCKAP5_uc002ttq.2_Missense_Mutation_p.A519P	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1838							protein binding				0						GGGTCTTCAGCATATCCGAAT	0.537		NaN											0	0	0	0.009718	0	43	205				
RAB3GAP1	22930	broad.mit.edu	37	2	135922246	135922246	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135922246C>T	uc002tuj.2	+	23	2714	c.2689C>T	c.(2689-2691)CTG>TTG	p.L897L	RAB3GAP1_uc010fnf.2_Silent_p.L897L|RAB3GAP1_uc010fng.2_Silent_p.L722L|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	897						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTCACAAGCTGTTTGTGAA	0.493		NaN											0	0	0	0.010729	0	11	27				
ZRANB3	84083	broad.mit.edu	37	2	135960517	135960517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135960517C>T	uc002tum.2	-	20	3143	c.3026G>A	c.(3025-3027)AGA>AAA	p.R1009K	ZRANB3_uc002tuk.2_Missense_Mutation_p.R552K|ZRANB3_uc002tul.2_Missense_Mutation_p.R1007K	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1009						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCTGGGTTTCTTATCATTTC	0.433		NaN											0	0	0	0.00308	0	8	22				
SPOPL	339745	broad.mit.edu	37	2	139308578	139308578	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:139308578C>T	uc002tvh.2	+	4	706	c.306C>T	c.(304-306)TTC>TTT	p.F102F		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	102	MATH.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAGCAAAATTCAAATTTTCCC	0.353		NaN											0	0	0	0.004656	0	24	56				
GALNT5	11227	broad.mit.edu	37	2	158165086	158165086	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:158165086A>C	uc002tzg.2	+	9	2783	c.2528A>C	c.(2527-2529)CAA>CCA	p.Q843P	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	843	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CAGCTTCAACAATTTAATTAC	0.388		NaN											0	0	0	0.01441	0	117	248				
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:160257124G>A	uc002uao.2	-	17	3236	c.2884C>T	c.(2884-2886)CAG>TAG	p.Q962*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q926*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q792*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AGAATTTGCTGAGCTCGAAGT	0.259		NaN											0	0	0	0.001984	0	7	15				
COBLL1	22837	broad.mit.edu	37	2	165586561	165586561	+	Missense_Mutation	SNP	T	T	C	rs146685683		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:165586561T>C	uc010zcw.1	-	5	578	c.454A>G	c.(454-456)ACA>GCA	p.T152A	COBLL1_uc002ucp.2_Missense_Mutation_p.T99A|COBLL1_uc002ucq.2_Missense_Mutation_p.T99A|COBLL1_uc010zcx.1_Missense_Mutation_p.T145A|COBLL1_uc002ucs.1_RNA	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	137										ovary(2)|pancreas(1)	3						AGATCGATTGTGTAACTTGAT	0.343		NaN											0	0	0	0.010504	0	20	40				
CSRNP3	80034	broad.mit.edu	37	2	166535631	166535631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166535631G>C	uc002udf.2	+	7	1502	c.1126G>C	c.(1126-1128)GAA>CAA	p.E376Q	CSRNP3_uc002udg.2_Missense_Mutation_p.E376Q	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	376	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						ggaggaggaagaagaagagga	0.423		NaN											0	0	0	0.004007	0	17	38				
SCN1A	6323	broad.mit.edu	37	2	166900510	166900510	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166900510C>T	uc010zcz.1	-	11	1730	c.1712G>A	c.(1711-1713)AGA>AAA	p.R571K	SCN1A_uc002udo.3_Missense_Mutation_p.R440K|SCN1A_uc010fpk.2_Missense_Mutation_p.R440K	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	571						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCTTGTTCTGCTATTTCG	0.438		NaN											0	0	0	0.004656	0	25	50				
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:168725897C>T	uc002udz.1	+	2	699	c.348C>T	c.(346-348)TTC>TTT	p.F116F		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	116	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						CCACCCTGTTCCTCCTGGGCA	0.488		NaN											0	0	0	0.008871	0	18	33				
LRP2	4036	broad.mit.edu	37	2	170175331	170175331	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:170175331G>C	uc002ues.2	-	3	464	c.251C>G	c.(250-252)TCC>TGC	p.S84C	LRP2_uc010zdf.1_Missense_Mutation_p.S84C	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	84	LDL-receptor class A 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACACCCAGGAGTTGGGGAT	0.468		NaN											0	0	0	0.004482	0	7	71				
RBM45	129831	broad.mit.edu	37	2	178977522	178977522	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:178977522G>A	uc002ulv.2	+	1	341	c.249G>A	c.(247-249)ATG>ATA	p.M83I		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	83	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCAGGGCCATGGAGGAGATGC	0.647		NaN											0	0	0	0.00632	0	25	58				
TTN	7273	broad.mit.edu	37	2	179422796	179422796	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179422796A>G	uc010zfg.1	-	277	79805	c.79581T>C	c.(79579-79581)ATT>ATC	p.I26527I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I20222I|TTN_uc010zfi.1_Silent_p.I20155I|TTN_uc010zfj.1_Silent_p.I20030I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27454							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCAGCAGTAATTTCGGTAT	0.428		NaN											0	0	0	0.00623	0	37	80				
TTN	7273	broad.mit.edu	37	2	179439443	179439443	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179439443T>C	uc010zfg.1	-	275	63936	c.63712A>G	c.(63712-63714)AGA>GGA	p.R21238G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14933G|TTN_uc010zfi.1_Missense_Mutation_p.R14866G|TTN_uc010zfj.1_Missense_Mutation_p.R14741G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22165							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCATATCTATTCTGAGCT	0.463		NaN											0	0	0	0.003271	0	32	55				
TTN	7273	broad.mit.edu	37	2	179650673	179650673	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179650673G>C	uc010zfg.1	-	14	2496	c.2272C>G	c.(2272-2274)CAC>GAC	p.H758D	TTN_uc010zfh.1_Missense_Mutation_p.H712D|TTN_uc010zfi.1_Missense_Mutation_p.H712D|TTN_uc010zfj.1_Missense_Mutation_p.H712D|TTN_uc002unb.2_Missense_Mutation_p.H758D|TTN_uc010frg.1_Missense_Mutation_p.H340D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	758							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACAACGTGGGGTTCTGAG	0.488		NaN											0	0	0	0.00632	0	28	45				
BMPR2	659	broad.mit.edu	37	2	203420156	203420156	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:203420156G>A	uc002uzf.3	+	12	2916	c.1768G>A	c.(1768-1770)GAA>AAA	p.E590K	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	590	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AATTAACTATGAACGACAGCA	0.463		NaN											0	0	0	0.014323	0	24	40				
INO80D	54891	broad.mit.edu	37	2	206921331	206921331	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:206921331C>T	uc002vaz.3	-	4	960	c.555G>A	c.(553-555)GAG>GAA	p.E185E		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	185					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CTTTTAAAATCTCTGTCTCTC	0.498		NaN											0	0	0	0.000602	0	5	14				
TNS1	7145	broad.mit.edu	37	2	218762563	218762563	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:218762563C>G	uc002vgt.2	-	6	524	c.126G>C	c.(124-126)GAG>GAC	p.E42D	TNS1_uc002vgr.2_Missense_Mutation_p.E42D|TNS1_uc002vgs.2_Missense_Mutation_p.E42D|TNS1_uc010zjv.1_Missense_Mutation_p.E42D|TNS1_uc010fvj.1_Missense_Mutation_p.E110D|TNS1_uc010fvk.1_Missense_Mutation_p.E167D|TNS1_uc002vgu.3_Missense_Mutation_p.E73D|TNS1_uc002vgv.1_RNA	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	42	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTGCGCCACCTCACGGAGGT	0.572		NaN											0	0	0	0.008361	0	31	43				
C2orf62	375307	broad.mit.edu	37	2	219229358	219229358	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219229358T>C	uc002vhr.2	+	7	667	c.638T>C	c.(637-639)CTG>CCG	p.L213P	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	213											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAAAACCTGGGCTTCCAG	0.562		NaN											0	0	0	0.004878	0	38	51				
STK36	27148	broad.mit.edu	37	2	219537634	219537634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219537634C>G	uc002viu.2	+	2	348	c.82C>G	c.(82-84)CAG>GAG	p.Q28E	STK36_uc002viv.2_Missense_Mutation_p.Q28E|RNF25_uc002vit.2_5'Flank|RNF25_uc010fvw.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	28	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATACAGTGCTCAGGTGTTGCA	0.443		NaN											0	0	0	0.004289	0	37	54				
CHPF	79586	broad.mit.edu	37	2	220406655	220406655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:220406655C>T	uc002vmc.3	-	2	798	c.571G>A	c.(571-573)GAC>AAC	p.D191N	CHPF_uc010zlh.1_Missense_Mutation_p.D29N|CHPF_uc002vmd.3_Missense_Mutation_p.D191N|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	191	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGTCAAAGTCGTCGCCGTGC	0.687		NaN									OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	12	18				
SCG2	7857	broad.mit.edu	37	2	224463114	224463114	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224463114C>T	uc002vnm.2	-	2	1020	c.887G>A	c.(886-888)CGG>CAG	p.R296Q		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	296					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACTCTCTTTCCGAAGATCTTC	0.418		NaN											0	0	0	0.006122	0	18	136				
SERPINE2	5270	broad.mit.edu	37	2	224849561	224849561	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224849561C>T	uc002vnu.2	-	5	1035	c.792G>A	c.(790-792)CCG>CCA	p.P264P	SERPINE2_uc002vnt.2_Silent_p.P264P|SERPINE2_uc010zlr.1_Silent_p.P276P|SERPINE2_uc002vnv.2_Silent_p.P264P	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	264					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGCAGACAGCGGAGTGGAGC	0.537		NaN											0	0	0	0.00499	0	18	37				
SERPINE2	5270	broad.mit.edu	37	2	224856541	224856541	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224856541G>T	uc002vnu.2	-	4	907	c.664C>A	c.(664-666)CAG>AAG	p.Q222K	SERPINE2_uc002vnt.2_Missense_Mutation_p.Q222K|SERPINE2_uc010zlr.1_Missense_Mutation_p.Q234K|SERPINE2_uc002vnv.2_Missense_Mutation_p.Q222K	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	222					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACGGAGAGCTGGGCCAGCATT	0.527		NaN											1	0	1.5842e-08	0.001855	1.67351e-08	14	42				
COL4A3	1285	broad.mit.edu	37	2	228137702	228137702	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:228137702G>C	uc002vom.1	+	26	1958	c.1796G>C	c.(1795-1797)GGG>GCG	p.G599A	COL4A3_uc002von.1_Missense_Mutation_p.G599A|COL4A3_uc002voo.1_Missense_Mutation_p.G599A|COL4A3_uc002vop.1_Missense_Mutation_p.G599A|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	599	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCTCCAGGGGATCCTGGC	0.557		NaN											0	0	0	0.005443	0	26	44				
FBXO36	130888	broad.mit.edu	37	2	230787323	230787323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:230787323C>G	uc002vqa.2	+	1	117	c.94C>G	c.(94-96)CAG>GAG	p.Q32E	TRIP12_uc002vpw.1_5'Flank|TRIP12_uc002vpx.1_5'Flank|TRIP12_uc002vpy.1_5'Flank|TRIP12_uc010zlz.1_5'Flank|TRIP12_uc010fxh.1_5'Flank|FBXO36_uc002vpz.2_Missense_Mutation_p.Q32E|FBXO36_uc002vqb.2_5'UTR|FBXO36_uc010fxi.1_Missense_Mutation_p.Q32E|FBXO36_uc002vqc.2_RNA	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	F-box protein 36	32										ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACCCGGTCTCAGGCAAGTGC	0.612		NaN											0	0	0	0.010729	0	12	34				
SP110	3431	broad.mit.edu	37	2	231035336	231035336	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231035336C>T	uc002vqh.3	-	17	2196	c.1956_splice	c.e17+1	p.K652_splice	SP110_uc002vqg.3_Splice_Site_p.K676_splice	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGCTCTTTACCTTGTAAAAT	0.443		NaN											0	0	0	0.010729	0	10	25				
SP140L	93349	broad.mit.edu	37	2	231222548	231222548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231222548G>A	uc010fxm.1	+	3	227	c.136G>A	c.(136-138)GAG>AAG	p.E46K	SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	46	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						GGATGTAGATGAGGGACTTGT	0.398		NaN											0	0	0	0.009535	0	27	188				
PSMD1	5707	broad.mit.edu	37	2	231936987	231936987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231936987C>T	uc002vrn.1	+	7	870	c.739C>T	c.(739-741)CAG>TAG	p.Q247*	PSMD1_uc002vrm.1_Nonsense_Mutation_p.Q247*|PSMD1_uc010fxu.1_Nonsense_Mutation_p.Q111*	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGGCATATCAGATTTGTTT	0.403		NaN											0	0	0	0.01441	0	47	117				
GIGYF2	26058	broad.mit.edu	37	2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233626135G>A	uc002vti.3	+	10	858	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	GIGYF2_uc010zmj.1_Missense_Mutation_p.R174Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R174Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R174Q|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	174	Arg-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAACCAGGACGAAAAGATGTA	0.378		NaN											0	0	0	0.00499	0	14	28				
GIGYF2	26058	broad.mit.edu	37	2	233651882	233651882	+	Silent	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233651882T>G	uc002vti.3	+	11	892	c.555T>G	c.(553-555)GGT>GGG	p.G185G	GIGYF2_uc010zmj.1_Silent_p.G185G|GIGYF2_uc002vtg.2_Silent_p.G185G|GIGYF2_uc002vtj.3_Silent_p.G207G|GIGYF2_uc002vtk.3_Silent_p.G185G|GIGYF2_uc002vth.3_Silent_p.G185G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.G16G	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	185	Arg-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGAGGAAGGTGGACCAACAT	0.383		NaN											0	0	0	0.008291	0	9	41				
GIGYF2	26058	broad.mit.edu	37	2	233721509	233721509	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233721509C>T	uc002vti.3	+	31	4176	c.3839C>T	c.(3838-3840)TCA>TTA	p.S1280L	GIGYF2_uc002vtj.3_Missense_Mutation_p.S1301L|GIGYF2_uc002vtk.3_Missense_Mutation_p.S1280L|GIGYF2_uc002vth.3_Missense_Mutation_p.S1274L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.S613L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	1280					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGGATTTTCAGTCAATGCA	0.502		NaN											0	0	0	0.003271	0	32	66				
DEFB127	140850	broad.mit.edu	37	20	139536	139536	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:139536C>T	uc002wcy.1	+	2	171	c.171C>T	c.(169-171)ATC>ATT	p.I57I		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	defensin, beta 127 preproprotein	57					defense response to bacterium|innate immune response	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCCTCAATATCAAGGAACTGG	0.393		NaN											0	0	0	0.003163	0	12	14				
ANGPT4	51378	broad.mit.edu	37	20	896835	896835	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:896835A>G	uc002wei.2	-	1	126	c.23T>C	c.(22-24)CTG>CCG	p.L8P	ANGPT4_uc010zpn.1_Missense_Mutation_p.L2P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	8					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						GCTGCCCTGCAGCATGGCTAG	0.602		NaN											0	0	0	0.010504	0	17	42				
SDCBP2	27111	broad.mit.edu	37	20	1291531	1291531	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:1291531T>C	uc002wev.3	-	8	866	c.737A>G	c.(736-738)AAA>AGA	p.K246R	SDCBP2_uc002weu.3_Missense_Mutation_p.K161R	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	246	PDZ 2.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						CATGATCTTTTTGTCCTAGGG	0.537		NaN											0	0	0	0.004482	0	9	20				
RASSF2	9770	broad.mit.edu	37	20	4778713	4778713	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:4778713A>T	uc002wld.2	-	3	132	c.78T>A	c.(76-78)CAT>CAA	p.H26Q	RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.H26Q	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	26					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						AGGTCTTCAGATGCAAGAGAA	0.473		NaN											0	0	0	0.012319	0	17	40				
MCM8	84515	broad.mit.edu	37	20	5966679	5966679	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:5966679C>T	uc002wmi.2	+	16	2442	c.2065C>T	c.(2065-2067)CTT>TTT	p.L689F	MCM8_uc002wmj.2_Missense_Mutation_p.L673F|MCM8_uc002wmk.2_Missense_Mutation_p.L729F|MCM8_uc002wml.2_Missense_Mutation_p.L689F|MCM8_uc010gbp.2_Missense_Mutation_p.L642F|MCM8_uc002wmm.2_Missense_Mutation_p.L227F	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	689					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TGCTCGAGTTCTTCAAGATTT	0.463		NaN											0	0	0	0.004656	0	25	39				
LRRN4	164312	broad.mit.edu	37	20	6025248	6025248	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:6025248G>C	uc002wmo.2	-	4	1163	c.939C>G	c.(937-939)CTC>CTG	p.L313L		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	313	Extracellular (Potential).					integral to membrane				skin(3)	3						AACTGCAAGTGAGGGGGTTGC	0.483		NaN											0	0	0	0.000602	0	5	14				
ESF1	51575	broad.mit.edu	37	20	13756530	13756530	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:13756530G>A	uc002woj.2	-	3	1132	c.1024C>T	c.(1024-1026)CGT>TGT	p.R342C	ESF1_uc002wok.1_Missense_Mutation_p.R342C	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TCATCAGCACGAGGAGCATCT	0.368		NaN											0	0	0	0.009535	0	33	41				
CRNKL1	51340	broad.mit.edu	37	20	20020280	20020280	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20020280G>A	uc002wrs.2	-	12	2033	c.2001C>T	c.(1999-2001)ATC>ATT	p.I667I		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	667	HAT 13.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						GTGGCTGACTGATGGCTAATT	0.378		NaN											0	0	0	0.00278	0	24	67				
RALGAPA2	57186	broad.mit.edu	37	20	20493296	20493296	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20493296C>T	uc002wrz.2	-	32	4860	c.4717G>A	c.(4717-4719)GAG>AAG	p.E1573K	RALGAPA2_uc010gcx.2_Missense_Mutation_p.E1277K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E1021K|RALGAPA2_uc002wsa.1_Missense_Mutation_p.E345K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1573					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGGATATACTCATCCTCTTGA	0.468		NaN											0	0	0	0.001168	0	5	51				
NAPB	63908	broad.mit.edu	37	20	23375803	23375803	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:23375803A>G	uc002wta.2	-	4	432	c.315T>C	c.(313-315)AAT>AAC	p.N105N	NAPB_uc002wtc.2_Intron|NAPB_uc002wtb.2_Silent_p.N109N|NAPB_uc002wtd.3_Intron|NAPB_uc010zss.1_5'UTR|NAPB_uc010zst.1_Silent_p.N66N	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment	105					intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CGATGGCTGCATTTAAGCAGT	0.428		NaN											0	0	0	0.001855	0	12	17				
CST4	1472	broad.mit.edu	37	20	23669392	23669392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:23669392C>T	uc002wto.1	-	1	271	c.215G>A	c.(214-216)CGA>CAA	p.R72Q		NM_001899	NP_001890	P01036	CYTS_HUMAN	cystatin S precursor	72						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTCCCTGGCTCGCAGCACCTG	0.597		NaN											0	0	0	0.004482	0	9	43				
VSX1	30813	broad.mit.edu	37	20	25059543	25059543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25059543G>T	uc002wuf.2	-	3	584	c.549C>A	c.(547-549)TTC>TTA	p.F183L	VSX1_uc002wue.2_RNA|VSX1_uc010gdd.1_Missense_Mutation_p.F183L|VSX1_uc010gde.1_RNA|VSX1_uc010gdf.1_Missense_Mutation_p.F183L|VSX1_uc002wug.1_Missense_Mutation_p.F183L	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	visual system homeobox 1 isoform a	183	Homeobox.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCCTCGCTGAATGCCTTCT	0.567		NaN											1	0	1.62565e-12	0.012213	1.74076e-12	33	50				
ZNF337	26152	broad.mit.edu	37	20	25657489	25657489	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25657489C>T	uc002wva.2	-	4	957	c.435G>A	c.(433-435)AGG>AGA	p.R145R	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.R113R|ZNF337_uc002wvb.2_Silent_p.R145R|ZNF337_uc002wvc.2_Silent_p.R145R	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACTGTTCCTCCTCCTTGAGC	0.443		NaN											0	0	0	0.004289	0	31	144				
ID1	3397	broad.mit.edu	37	20	30193214	30193214	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:30193214C>T	uc002wwg.1	+	1	123	c.24C>T	c.(22-24)ACC>ACT	p.T8T	ID1_uc002wwh.1_Silent_p.T8T|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	8					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTGGCAGCACCGCCACCGCCG	0.622		NaN											0	0	0	0.006122	0	14	29				
NFS1	9054	broad.mit.edu	37	20	34286483	34286483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34286483G>A	uc002xdw.1	-	2	191	c.127C>T	c.(127-129)CCC>TCC	p.P43S	NFS1_uc002xdt.1_5'UTR|NFS1_uc002xdu.1_5'UTR|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.P43S|NFS1_uc002xdx.2_Missense_Mutation_p.P43S|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	43					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTATCTGCGGGAACCGCAGAC	0.542		NaN											0	0	0	0.00499	0	15	54				
PHF20	51230	broad.mit.edu	37	20	34459579	34459579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34459579G>A	uc002xek.1	+	9	1221	c.1110G>A	c.(1108-1110)TTG>TTA	p.L370L	PHF20_uc002xei.1_Silent_p.L370L|PHF20_uc010gfo.1_Silent_p.L370L|PHF20_uc002xej.1_Silent_p.L254L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TAGGTCAGTTGAAGTCTGCTT	0.453		NaN											0	0	0	0.01441	0	57	72				
PPP1R16B	26051	broad.mit.edu	37	20	37547047	37547047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37547047T>C	uc002xje.2	+	11	1631	c.1442T>C	c.(1441-1443)CTG>CCG	p.L481P	PPP1R16B_uc010ggc.2_Missense_Mutation_p.L439P	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	481					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAGACGCTTCTGGAGCTGAAG	0.647		NaN											0	0	0	0.010818	0	31	50				
FAM83D	81610	broad.mit.edu	37	20	37570635	37570635	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37570635A>G	uc002xjg.2	+	2	648	c.607A>G	c.(607-609)ATC>GTC	p.I203V	FAM83D_uc002xjf.2_Missense_Mutation_p.I203V	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	173					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GTTCACAGACATCGACATCTT	0.478		NaN											0	0	0	0.004656	0	25	58				
SERINC3	10955	broad.mit.edu	37	20	43132519	43132519	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:43132519G>A	uc002xme.2	-	8	1126	c.992C>T	c.(991-993)TCT>TTT	p.S331F	SERINC3_uc002xmf.1_Missense_Mutation_p.S331F|SERINC3_uc010ggs.1_Missense_Mutation_p.S324F|SERINC3_uc010zwp.1_Missense_Mutation_p.S276F	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	331	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413		NaN											0	0	0	0.014323	0	23	40				
CDH22	64405	broad.mit.edu	37	20	44803691	44803691	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:44803691G>A	uc002xrm.2	-	11	2342	c.1941C>T	c.(1939-1941)CTC>CTT	p.L647L	CDH22_uc010ghk.1_Silent_p.L647L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	647	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGTGGCGCCTGAGGGTGAGGA	0.627		NaN											0	0	0	0.004656	0	23	25				
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46279830G>A	uc002xtk.2	+	20	3961	c.3756G>A	c.(3754-3756)CAG>CAA	p.Q1252Q	NCOA3_uc010ght.1_Silent_p.Q1243Q|NCOA3_uc002xtl.2_Silent_p.Q1248Q|NCOA3_uc002xtm.2_Silent_p.Q1247Q|NCOA3_uc002xtn.2_Silent_p.Q1251Q|NCOA3_uc010zyc.1_Silent_p.Q1047Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1252	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						agcagcagcagcagcaacagc	0.289		NaN											0	0	0	0.009096	0	4	50				
SULF2	55959	broad.mit.edu	37	20	46292924	46292924	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46292924G>C	uc002xto.2	-	15	2337	c.2007C>G	c.(2005-2007)ACC>ACG	p.T669T	SULF2_uc002xtr.2_Silent_p.T669T|SULF2_uc002xtq.2_Silent_p.T669T|SULF2_uc010zyd.1_5'UTR	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	669					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTTTGTGCTGGGTGTGGTAGC	0.602		NaN									OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	8	25				
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50255994C>T	uc002xwg.1	-	15	1556	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						AGACTGGTCTCGGCCCACCAG	0.547		NaN									OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	23	40				
SALL4	57167	broad.mit.edu	37	20	50400861	50400861	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50400861G>C	uc002xwh.3	-	4	3206	c.3105C>G	c.(3103-3105)GGC>GGG	p.G1035G	SALL4_uc010gii.2_Silent_p.G598G|SALL4_uc002xwi.3_Silent_p.G258G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	1035					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTTTGGGAACGCCGTCAGTAG	0.517		NaN											0	0	0	0.014323	0	21	80				
SLC17A9	63910	broad.mit.edu	37	20	61588228	61588228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:61588228G>A	uc002yea.3	+	2	355	c.171G>A	c.(169-171)TGG>TGA	p.W57*	SLC17A9_uc002ydz.3_Nonsense_Mutation_p.W51*|SLC17A9_uc011aap.1_Nonsense_Mutation_p.W77*	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	57					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						ACTTCGGCTGGAACAAGAAGG	0.632		NaN											0	0	0	0.006214	0	9	32				
TPTE	7179	broad.mit.edu	37	21	10934121	10934121	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:10934121C>G	uc002yip.1	-	16	1225	c.857_splice	c.e16-1	p.S286_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S268_splice|TPTE_uc002yir.1_Splice_Site_p.S248_splice|TPTE_uc010gkv.1_Splice_Site_p.S148_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTCTTTCACCTAAAATAAAT	0.299		NaN											0	0	0	0.00278	0	22	163				
MRPL39	54148	broad.mit.edu	37	21	26978900	26978900	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:26978900G>C	uc002ylo.2	-	2	155	c.141C>G	c.(139-141)CTC>CTG	p.L47L	MRPL39_uc002yln.2_Silent_p.L47L	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	47						mitochondrial ribosome	nucleotide binding				0						CTTTATTAAAGAGATCATTCC	0.413		NaN											0	0	0	0.00308	0	7	48				
GRIK1	2897	broad.mit.edu	37	21	30959910	30959910	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:30959910C>G	uc002yno.1	-	12	2034	c.1570_splice	c.e12-1	p.R524_splice	GRIK1_uc002ynn.2_Splice_Site_p.R509_splice|GRIK1_uc011acs.1_Splice_Site_p.R524_splice|GRIK1_uc011act.1_Splice_Site_p.R385_splice|GRIK1_uc010glq.1_Splice_Site_p.R367_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTCAGCCCTCTGCAAAAGCA	0.453		NaN											0	0	0	0.00308	0	8	15				
C21orf59	56683	broad.mit.edu	37	21	33979964	33979964	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:33979964A>G	uc002yqc.2	-	3	483	c.370T>C	c.(370-372)TCT>CCT	p.S124P	C21orf59_uc002ypx.1_Missense_Mutation_p.S17P|C21orf59_uc002ypy.1_Missense_Mutation_p.S124P|C21orf59_uc002ypz.1_Missense_Mutation_p.S124P|C21orf59_uc010glx.2_Intron|C21orf59_uc002yqd.2_Missense_Mutation_p.S124P|C21orf59_uc002yqb.3_Missense_Mutation_p.S124P|C21orf59_uc011adr.1_Missense_Mutation_p.S68P	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	124						cytosol|nucleus					0						CCAACCTTAGATATTATTGCT	0.249		NaN											0	0	0	0.00245	0	15	40				
SYNJ1	8867	broad.mit.edu	37	21	34003938	34003938	+	Silent	SNP	T	T	C	rs61750219		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:34003938T>C	uc002yqh.2	-	32	4206	c.4206A>G	c.(4204-4206)CAA>CAG	p.Q1402Q	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.Q1316Q|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1363	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						AAACATTACTTTGCGTTGCAG	0.448		NaN											0	0	0	0.013726	0	28	29				
DOPEY2	9980	broad.mit.edu	37	21	37571421	37571421	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:37571421C>T	uc002yvg.2	+	3	271	c.192C>T	c.(190-192)AGC>AGT	p.S64S	DOPEY2_uc011aeb.1_Silent_p.S64S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	64					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TCCTCATCAGCAAAAGATTAG	0.458		NaN											0	0	0	0.007413	0	19	43				
ZNF295	49854	broad.mit.edu	37	21	43413477	43413477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:43413477G>A	uc002zab.3	-	3	942	c.728C>T	c.(727-729)TCA>TTA	p.S243L	ZNF295_uc002yzz.3_Missense_Mutation_p.S243L|ZNF295_uc002yzy.3_Missense_Mutation_p.S243L|ZNF295_uc002zaa.3_Missense_Mutation_p.S243L|ZNF295_uc010gov.1_Missense_Mutation_p.S243L|ZNF295_uc002zac.2_Missense_Mutation_p.S243L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	243					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAGGCTTTGAAGGCAACAC	0.428		NaN											0	0	0	0.001855	0	14	17				
TRAPPC10	7109	broad.mit.edu	37	21	45522807	45522807	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:45522807C>T	uc002zea.2	+	22	3664	c.3495C>T	c.(3493-3495)TTC>TTT	p.F1165F	TRAPPC10_uc010gpo.2_Silent_p.F876F|TRAPPC10_uc011afa.1_Silent_p.F543F	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1165					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCAGGCTGTTCAAGTACCTCC	0.552		NaN											0	0	0	0.01441	0	41	75				
POFUT2	23275	broad.mit.edu	37	21	46685469	46685469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:46685469C>T	uc002zhc.2	-	9	1243	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_3'UTR	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	406					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TGTTGTACGTCGTCTTGGGGT	0.527		NaN											0	0	0	0.00245	0	14	55				
MCM3AP	8888	broad.mit.edu	37	21	47704198	47704198	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:47704198C>A	uc002zir.1	-	1	1039	c.1003G>T	c.(1003-1005)GGT>TGT	p.G335C	C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	335					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AATAAAGTACCTCCCCGGGGT	0.522		NaN											1	0	2.70662e-09	0.009535	2.86622e-09	33	124				
P2RX6	9127	broad.mit.edu	37	22	21380552	21380552	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21380552C>T	uc010gsu.1	+	11	1062	c.1062C>T	c.(1060-1062)TTC>TTT	p.F354F	P2RX6_uc002ztz.2_Silent_p.F328F|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	354	Helical; Name=2; (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TCACCTTTTTCTGTGACCTGC	0.463		NaN											0	0	0	0.001984	0	6	7				
CCDC116	164592	broad.mit.edu	37	22	21988323	21988323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21988323A>T	uc002zve.2	+	3	178	c.85A>T	c.(85-87)AAG>TAG	p.K29*	CCDC116_uc011aih.1_Nonsense_Mutation_p.K29*	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	29										ovary(1)|skin(1)	2	Colorectal(54;0.105)					GCAGCTGCCCAAGAAGCCACT	0.637		NaN											0	0	0	0.007291	0	28	75				
TOP3B	8940	broad.mit.edu	37	22	22322014	22322014	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22322014C>T	uc002zvs.2	-	8	1248	c.813G>A	c.(811-813)CAG>CAA	p.Q271Q	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.Q271Q|TOP3B_uc002zvt.3_Silent_p.Q271Q	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	271					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTAAAAACATCTGTGCGATCT	0.502		NaN											0	0	0	0.003271	0	31	73				
GGTLC2	91227	broad.mit.edu	37	22	22989480	22989480	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22989480C>T	uc010gtt.2	+	3	366	c.332C>T	c.(331-333)CCG>CTG	p.P111L	LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.P111L	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase-like 4 isoform 1	111					glutathione biosynthetic process		gamma-glutamyltransferase activity			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCAATGTGCCCGACGATCATG	0.652		NaN											0	0	0	0.003755	0	32	91				
CARD10	29775	broad.mit.edu	37	22	37887821	37887821	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:37887821G>C	uc003asx.1	-	19	2808	c.2805C>G	c.(2803-2805)AAC>AAG	p.N935K	CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.N253K|CARD10_uc003asw.1_Missense_Mutation_p.N649K|CARD10_uc003asy.1_Missense_Mutation_p.N935K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	935					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GGTAGATCTCGTTCTGCACCA	0.617		NaN											0	0	0	0.006214	0	7	55				
GALR3	8484	broad.mit.edu	37	22	38220829	38220829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38220829C>G	uc003aub.1	+	2	484	c.459C>G	c.(457-459)TTC>TTG	p.F153L		NM_003614	NP_003605	O60755	GALR3_HUMAN	galanin receptor 3	153	Helical; Name=4; (Potential).				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0	Melanoma(58;0.045)					CGGCGCTCTTCTCGGCGCCCT	0.771		NaN											0	0	0	0.000602	0	4	11				
PLA2G6	8398	broad.mit.edu	37	22	38541624	38541624	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38541624C>T	uc003auy.1	-	3	382	c.246G>A	c.(244-246)GTG>GTA	p.V82V	PLA2G6_uc003auz.1_Silent_p.V82V|PLA2G6_uc003ava.1_Silent_p.V82V|PLA2G6_uc003avb.2_Silent_p.V82V|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.V82V	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	82					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GATGGAAATTCACTAGGGCGT	0.572		NaN											0	0	0	0.007413	0	15	36				
NPTXR	23467	broad.mit.edu	37	22	39239400	39239400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:39239400G>A	uc003awk.2	-	1	618	c.464C>T	c.(463-465)ACC>ATC	p.T155I		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	155	Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CAGCTTGCCGGTGAGCTCACG	0.602		NaN											0	0	0	0.004672	0	3	10				
EP300	2033	broad.mit.edu	37	22	41513289	41513289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:41513289C>T	uc003azl.3	+	2	588	c.193C>T	c.(193-195)CAG>TAG	p.Q65*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	65	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TAATCAGCTTCAGACAAGTCT	0.418		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.008871	0	19	43		Valid		
TCF20	6942	broad.mit.edu	37	22	42607770	42607770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:42607770G>A	uc003bcj.1	-	1	3676	c.3542C>T	c.(3541-3543)TCC>TTC	p.S1181F	TCF20_uc003bck.1_Missense_Mutation_p.S1181F|TCF20_uc003bnt.2_Missense_Mutation_p.S1181F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1181	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TAACTTCTGGGAGCCATGCTT	0.532		NaN											0	0	0	0.010504	0	22	59				
TTLL12	23170	broad.mit.edu	37	22	43570524	43570524	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:43570524A>C	uc003bdq.2	-	7	1047	c.1015T>G	c.(1015-1017)TCA>GCA	p.S339A	TTLL12_uc003bdr.1_Missense_Mutation_p.S339A	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	339	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				TTGAAGTGTGAGAAGTTGAAG	0.657		NaN											0	0	0	0.010818	0	28	46				
IL17REL	400935	broad.mit.edu	37	22	50436125	50436125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50436125C>T	uc003bje.1	-	12	1098	c.866G>A	c.(865-867)CGT>CAT	p.R289H		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	289										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGAAGCGACGCTGTTCGAA	0.527		NaN											0	0	0	0.003163	0	13	49				
PANX2	56666	broad.mit.edu	37	22	50609337	50609337	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50609337C>T	uc003bjn.3	+	1	178	c.178C>T	c.(178-180)CTG>TTG	p.L60L	PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Silent_p.L60L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	60	Helical; (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGCACCGTGCTGGTGCCCAT	0.587		NaN											0	0	0	0.000602	0	4	12				
CNTN6	27255	broad.mit.edu	37	3	1445006	1445006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:1445006G>C	uc003boz.2	+	23	3258	c.2991G>C	c.(2989-2991)TTG>TTC	p.L997F	CNTN6_uc011asj.1_Missense_Mutation_p.L925F|CNTN6_uc003bpa.2_Missense_Mutation_p.L997F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	997					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGCAGGTTTGAGTTCCAGAG	0.303		NaN											0	0	0	0.010729	0	12	40				
CRBN	51185	broad.mit.edu	37	3	3194143	3194143	+	Missense_Mutation	SNP	G	G	C	rs146272907		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:3194143G>C	uc003bpq.2	-	10	1164	c.1145C>G	c.(1144-1146)CCT>CGT	p.P382R	CRBN_uc003bpr.2_Missense_Mutation_p.P381R|CRBN_uc010hbw.2_Intron	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	382	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ATATTACCCAGGAAACCAGCT	0.393		NaN											0	0	0	0.014323	0	22	37				
ITPR1	3708	broad.mit.edu	37	3	4818947	4818947	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:4818947G>A	uc003bqa.2	+	45	6385	c.6037_splice	c.e45-1	p.N2013_splice	ITPR1_uc010hca.1_Splice_Site_p.N1998_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.N983_splice	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTTGCTCAGAACTGCATAG	0.448		NaN											0	0	0	0.004672	0	3	4				
ATP2B2	491	broad.mit.edu	37	3	10420033	10420033	+	Silent	SNP	G	G	A	rs147871544		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:10420033G>A	uc003bvt.2	-	10	1543	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G	ATP2B2_uc003bvv.2_Silent_p.G323G|ATP2B2_uc003bvw.2_Silent_p.G323G|ATP2B2_uc010hdo.2_Silent_p.G73G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	368	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTCAGCGTCGCCGCCCTCGG	0.627		NaN											0	0	0	0.01441	0	50	72				
TIMP4	7079	broad.mit.edu	37	3	12195844	12195844	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:12195844G>A	uc003bwo.2	-	4	767	c.460C>T	c.(460-462)CTG>TTG	p.L154L	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	154	NTR.						metal ion binding|metalloendopeptidase inhibitor activity				0						CCACAGTTCAGATGGTAGTGA	0.473		NaN											0	0	0	0.01441	0	72	157				
KCNH8	131096	broad.mit.edu	37	3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:19436626C>T	uc003cbk.1	+	7	1195	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	KCNH8_uc011awe.1_Missense_Mutation_p.R334C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	334	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AAAGACAGTGCGCCTCTTGCG	0.478		NaN											0	0	0	0.01441	0	45	103				
CMTM8	152189	broad.mit.edu	37	3	32280541	32280541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:32280541G>A	uc003cex.2	+	1	371	c.77G>A	c.(76-78)AGC>AAC	p.S26N	CMTM8_uc010hfu.2_Missense_Mutation_p.S26N	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	26					chemotaxis	extracellular space|integral to membrane	cytokine activity				0						TTCTCCACCAGCAGCAGCAGC	0.706		NaN											0	0	0	0.001168	0	5	6				
UBP1	7342	broad.mit.edu	37	3	33434926	33434926	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33434926C>T	uc003cfq.3	-	14	1941	c.1411G>A	c.(1411-1413)GAA>AAA	p.E471K	FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|UBP1_uc003cfr.3_Missense_Mutation_p.E435K|UBP1_uc010hga.2_Missense_Mutation_p.E471K	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	471					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						ATCATTTCTTCCAAGTAGATT	0.368		NaN											0	0	0	0.013537	0	12	32				
CLASP2	23122	broad.mit.edu	37	3	33614729	33614729	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33614729G>A	uc003cfu.2	-	25	2926	c.2572C>T	c.(2572-2574)CCT>TCT	p.P858S	CLASP2_uc003cfs.2_Missense_Mutation_p.P66S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.P459S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	867										ovary(3)|central_nervous_system(1)	4						ATATATGTAGGAATACTACCA	0.433		NaN											0	0	0	0.01441	0	70	135				
DLEC1	9940	broad.mit.edu	37	3	38157986	38157986	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:38157986A>G	uc003cho.1	+	28	3920	c.3899A>G	c.(3898-3900)GAA>GGA	p.E1300G	DLEC1_uc003chp.1_Missense_Mutation_p.E1300G|DLEC1_uc010hgv.1_Missense_Mutation_p.E1303G|DLEC1_uc003chr.1_Missense_Mutation_p.E371G|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1300					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGACAAGGAAGACCGGCTG	0.607		NaN											0	0	0	0.004656	0	18	50				
TTC21A	199223	broad.mit.edu	37	3	39166997	39166997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:39166997G>A	uc003cjc.2	+	11	1567	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	TTC21A_uc003cje.2_Missense_Mutation_p.E464K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.E415K	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	464							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATTGCTAAGGAGTACTTGCT	0.552		NaN											0	0	0	0.013726	0	28	96				
ULK4	54986	broad.mit.edu	37	3	41831325	41831325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41831325C>T	uc003ckv.3	-	21	2222	c.2021G>A	c.(2020-2022)AGA>AAA	p.R674K	ULK4_uc003ckw.2_Missense_Mutation_p.R674K	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	674							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCGAGTGATTCTACACAAGGC	0.463		NaN											0	0	0	0.014323	0	20	43				
DHX30	22907	broad.mit.edu	37	3	47883135	47883135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:47883135G>A	uc003cru.2	+	8	1123	c.697G>A	c.(697-699)GAC>AAC	p.D233N	DHX30_uc003crs.2_Missense_Mutation_p.D194N|DHX30_uc003crt.2_Missense_Mutation_p.D194N|DHX30_uc010hjr.1_Missense_Mutation_p.D261N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	233						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GACAGATGACGACAGTGCCAT	0.493		NaN											0	0	0	0.00632	0	30	54				
RBM6	10180	broad.mit.edu	37	3	50012766	50012766	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50012766C>T	uc003cyc.2	+	5	1557	c.1424C>T	c.(1423-1425)GCT>GTT	p.A475V	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_5'UTR|RBM6_uc003cyd.2_5'UTR|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	475	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATTCTTAATGCTTTTCGGACT	0.358		NaN											0	0	0	0.014323	0	22	59				
RBM5	10181	broad.mit.edu	37	3	50145531	50145531	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50145531A>G	uc003cyg.2	+	13	1218	c.1070A>G	c.(1069-1071)GAC>GGC	p.D357G	RBM5_uc011bdj.1_Missense_Mutation_p.D301G|RBM5_uc011bdk.1_Missense_Mutation_p.D185G	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	357	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGTGTTGACTACAGTTAT	0.403		NaN											0	0	0	0.012319	0	19	28				
MAPKAPK3	7867	broad.mit.edu	37	3	50685459	50685459	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50685459G>A	uc003day.1	+	13	1727	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	MAPKAPK3_uc003daz.1_Silent_p.Q377Q|MAPKAPK3_uc003dba.1_Silent_p.Q377Q|MAPKAPK3_uc010hlr.1_Silent_p.Q377Q	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	377					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGCCTCACAGGGCTGCAACA	0.572		NaN											0	0	0	0.008291	0	11	43				
VPRBP	9730	broad.mit.edu	37	3	51464860	51464860	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:51464860T>G	uc003dbe.1	-	12	1978	c.1810A>C	c.(1810-1812)ATT>CTT	p.I604L		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	604					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCAATAGAAATAAGCTGCAAC	0.388		NaN											0	0	0	0.00278	0	20	35				
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:52812034G>T	uc003dfs.2	+	2	162	c.138_splice	c.e2+1	p.T46_splice	ITIH1_uc010hmn.1_Splice_Site	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562		NaN											1	0	1.22674e-20	0.00874	1.32679e-20	33	71				
PDE12	201626	broad.mit.edu	37	3	57545080	57545080	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:57545080G>A	uc003diw.3	+	2	1478	c.1352G>A	c.(1351-1353)TGT>TAT	p.C451Y	PDE12_uc003div.2_Missense_Mutation_p.C451Y	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	451							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AAAAGGATATGTGTTGCTAAT	0.358		NaN											0	0	0	0.001855	0	13	67				
MAGI1	9223	broad.mit.edu	37	3	65346992	65346992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:65346992C>T	uc003dmn.2	-	22	4042	c.3516G>A	c.(3514-3516)GAG>GAA	p.E1172E	MAGI1_uc003dmm.2_Silent_p.E1200E|MAGI1_uc003dmo.2_Silent_p.E1201E|MAGI1_uc003dmp.2_Silent_p.E1105E	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1201	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACCATTGATCTCTAAAATTT	0.348		NaN											0	0	0	0.012319	0	21	30				
SHQ1	55164	broad.mit.edu	37	3	72799820	72799820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72799820G>A	uc003dpf.2	-	11	1456	c.1349C>T	c.(1348-1350)TCC>TTC	p.S450F	SHQ1_uc010hod.2_Missense_Mutation_p.S361F	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	450	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTCAGAGCTGGAGCAAAGTGT	0.478		NaN											0	0	0	0.004482	0	9	6				
SHQ1	55164	broad.mit.edu	37	3	72897392	72897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72897392C>T	uc003dpf.2	-	1	207	c.100G>A	c.(100-102)GAG>AAG	p.E34K	SHQ1_uc010hod.2_5'UTR	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	34	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGACCCCTCGAAGTAGACG	0.592		NaN											0	0	0	0.01441	0	73	139				
CNTN3	5067	broad.mit.edu	37	3	74350557	74350557	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350557T>C	uc003dpm.1	-	15	2167	c.2087A>G	c.(2086-2088)GAA>GGA	p.E696G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	696					cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTGCCTCTTCAGTTCTTAC	0.433		NaN											0	0	0	0.014323	0	19	62				
CNTN3	5067	broad.mit.edu	37	3	74350587	74350587	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350587G>T	uc003dpm.1	-	15	2137	c.2057C>A	c.(2056-2058)CCA>CAA	p.P686Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	686	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTAAACTTGGTTCTCCACC	0.408		NaN											1	0	1.33834e-09	0.007413	1.419e-09	17	75				
EPHA6	285220	broad.mit.edu	37	3	96706689	96706689	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:96706689T>C	uc010how.1	+	3	1009	c.966T>C	c.(964-966)TCT>TCC	p.S322S	EPHA6_uc003drp.1_Silent_p.S322S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	227	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ATTCCTCCTCTTTGGTTGAAG	0.473		NaN											0	0	0	0.01441	0	56	128				
MORC1	27136	broad.mit.edu	37	3	108690187	108690187	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:108690187A>G	uc003dxl.2	-	25	2627	c.2540T>C	c.(2539-2541)TTA>TCA	p.L847S	MORC1_uc011bhn.1_Missense_Mutation_p.L826S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	847					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTCACAACTTAATGCAGGTTC	0.383		NaN											0	0	0	0.008361	0	28	76				
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111785291C>T	uc010hqb.2	+	11	1400	c.1230C>T	c.(1228-1230)CTC>CTT	p.L410L	TMPRSS7_uc011bhr.1_Silent_p.L265L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	Extracellular (Potential).|LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ATGGCCCTCTCATCTGTGATG	0.507		NaN											0	0	0	0.00623	0	32	232				
TMPRSS7	344805	broad.mit.edu	37	3	111794272	111794272	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111794272T>C	uc010hqb.2	+	13	1680	c.1510T>C	c.(1510-1512)TAC>CAC	p.Y504H	TMPRSS7_uc011bhr.1_Missense_Mutation_p.Y359H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	630	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						TGGATCTGCCTACTGTGGTGC	0.582		NaN											0	0	0	0.01441	0	63	489				
BOC	91653	broad.mit.edu	37	3	113003353	113003353	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:113003353C>T	uc003dzx.2	+	17	3446	c.2825C>T	c.(2824-2826)TCG>TTG	p.S942L	BOC_uc003dzy.2_Missense_Mutation_p.S942L|BOC_uc003dzz.2_Missense_Mutation_p.S943L|BOC_uc003eab.2_Missense_Mutation_p.S643L|BOC_uc003eac.2_Missense_Mutation_p.S257L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	942	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GGCTGCCCCTCGGCTGCAGTG	0.647		NaN											0	0	0	0.009718	0	43	37				
GOLGB1	2804	broad.mit.edu	37	3	121411211	121411211	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121411211C>T	uc003eei.3	-	14	7111	c.6985G>A	c.(6985-6987)GAA>AAA	p.E2329K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E2334K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2295K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2329	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTACATTTTTCTAAAGAGTTA	0.373		NaN											0	0	0	0.010818	0	29	156				
GOLGB1	2804	broad.mit.edu	37	3	121415253	121415253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121415253C>T	uc003eei.3	-	13	4228	c.4102G>A	c.(4102-4104)GAA>AAA	p.E1368K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E1373K|GOLGB1_uc003eej.3_Missense_Mutation_p.E1334K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1254K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1332K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1368	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGGCTTTCGGCATGGACT	0.398		NaN											0	0	0	0.01441	0	288	141				
ITGB5	3693	broad.mit.edu	37	3	124487931	124487931	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124487931G>A	uc003eho.2	-	12	2243	c.1946C>T	c.(1945-1947)TCT>TTT	p.S649F	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	649	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGGTTTCCCAGAGTGGAGCAG	0.557		NaN											0	0	0	0.01441	0	138	46				
ZNF148	7707	broad.mit.edu	37	3	124952081	124952081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124952081G>A	uc003ehx.3	-	9	1975	c.1489C>T	c.(1489-1491)CAG>TAG	p.Q497*	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Nonsense_Mutation_p.Q497*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.Q497*|ZNF148_uc003eia.3_Nonsense_Mutation_p.Q497*|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	497					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						ACAGAAGGCTGAGAAGCTATG	0.438		NaN											0	0	0	0.01441	0	192	83				
PLXNA1	5361	broad.mit.edu	37	3	126724992	126724992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126724992C>T	uc003ejg.2	+	7	1903	c.1899C>T	c.(1897-1899)TTC>TTT	p.F633F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	656	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607		NaN											0	0	0	0.010504	0	22	176				
PLXNA1	5361	broad.mit.edu	37	3	126735421	126735421	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126735421A>G	uc003ejg.2	+	15	3011	c.3007A>G	c.(3007-3009)ATC>GTC	p.I1003V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1026	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCTCCCATCATCATCAA	0.632		NaN											0	0	0	0.006122	0	15	216				
EEFSEC	60678	broad.mit.edu	37	3	128060247	128060247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:128060247G>A	uc003eki.2	+	5	996	c.958G>A	c.(958-960)GAA>AAA	p.E320K	EEFSEC_uc003ekj.2_Missense_Mutation_p.E265K	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	320						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CATCTCTGTGGAAAAGATACC	0.582		NaN											0	0	0	0.01441	0	56	254				
PIK3R4	30849	broad.mit.edu	37	3	130405056	130405056	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:130405056A>G	uc003enj.2	-	15	4055	c.3474T>C	c.(3472-3474)ATT>ATC	p.I1158I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1158	WD 4.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TTAGCTTACCAATGCAGAGCC	0.428		NaN											0	0	0	0.005443	0	25	25				
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132071660G>A	uc010htp.2	+	9	1051	c.961G>A	c.(961-963)GAG>AAG	p.E321K	ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						ATTGTACTTTGAGAAGGGGTA	0.433		NaN											0	0	0	0.001855	0	14	29				
CCRL1	51554	broad.mit.edu	37	3	132319410	132319410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132319410G>A	uc003eow.2	+	2	252	c.169G>A	c.(169-171)GCA>ACA	p.A57T	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A57T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	57	Helical; Name=1; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						CATTGGACTTGCAGGCAATTC	0.383		NaN											0	0	0	0.003954	0	20	23				
TOPBP1	11073	broad.mit.edu	37	3	133339155	133339155	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:133339155T>G	uc003eps.2	-	20	3347	c.3215A>C	c.(3214-3216)CAG>CCG	p.Q1072P	TOPBP1_uc003ept.1_Missense_Mutation_p.Q76P	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1072					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						TAACTGCTTCTGAAAGTTCTC	0.398		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.004289	0	32	19				
NCK1	4690	broad.mit.edu	37	3	136667120	136667120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:136667120C>T	uc003erh.2	+	4	1066	c.959C>T	c.(958-960)TCA>TTA	p.S320L	NCK1_uc011bme.1_Missense_Mutation_p.S256L	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	320	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TTCTCAGTATCACTAAAAGCA	0.308		NaN											0	0	0	0.013537	0	10	18				
RAP2B	5912	broad.mit.edu	37	3	152880938	152880938	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:152880938G>A	uc003ezr.2	+	1	910	c.456G>A	c.(454-456)TCG>TCA	p.S152S		NM_002886	NP_002877	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family precursor	152					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			lung(2)	2			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAAAGCCTCGGTAGACGAGC	0.642		NaN											0	0	0	0.000602	0	5	9				
RPL22L1	200916	broad.mit.edu	37	3	170584195	170584195	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170584195C>T	uc003fhc.3	-	4	432	c.343G>A	c.(343-345)GAA>AAA	p.E115K	RPL22L1_uc003fhb.3_RNA	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	115					translation	ribosome	structural constituent of ribosome				0	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATTCATCTTCATCTTGACTA	0.393		NaN											0	0	0	0.000602	0	4	22				
SLC2A2	6514	broad.mit.edu	37	3	170727792	170727792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170727792G>C	uc003fhe.1	-	4	760	c.451C>G	c.(451-453)CAT>GAT	p.H151D	SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Missense_Mutation_p.H24D	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	151	Extracellular (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATAAGTATATGAGATGGTCCC	0.289		NaN											0	0	0	0.001855	0	14	24				
NCEH1	57552	broad.mit.edu	37	3	172365740	172365740	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:172365740G>C	uc011bpx.1	-	2	537	c.399C>G	c.(397-399)CCC>CCG	p.P133P	NCEH1_uc003fig.2_Silent_p.P133P|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	101	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						GTGGCTCTTCGGGCTTCGGAG	0.532		NaN											0	0	0	0.00499	0	16	46				
GNB4	59345	broad.mit.edu	37	3	179119064	179119064	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:179119064T>C	uc003fjv.3	-	10	1240	c.960A>G	c.(958-960)GTA>GTG	p.V320V	GNB4_uc003fju.3_3'UTR	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	320	WD 7.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATCATCAGTTACACCTAAGC	0.383		NaN											0	0	0	0.014323	0	20	29				
FXR1	8087	broad.mit.edu	37	3	180630521	180630521	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:180630521C>T	uc003fkq.2	+	1	70	c.48C>T	c.(46-48)TAC>TAT	p.Y16Y	FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Silent_p.Y16Y|FXR1_uc011bqj.1_5'UTR|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Silent_p.Y16Y|FXR1_uc011bql.1_5'Flank	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	16					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGCTTTCTACAAGGTACTGA	0.552		NaN									OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	57	113				
KLHL6	89857	broad.mit.edu	37	3	183209963	183209963	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183209963G>A	uc003flr.2	-	7	1676	c.1618C>T	c.(1618-1620)CTG>TTG	p.L540L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	540	Kelch 5.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGTCACCAGGCACCAGCTG	0.632		NaN											0	0	0	0.00333	0	26	33				
ABCC5	10057	broad.mit.edu	37	3	183665178	183665178	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183665178C>T	uc003fmg.2	-	23	3513	c.3348G>A	c.(3346-3348)ATG>ATA	p.M1116I	ABCC5_uc011bqt.1_Missense_Mutation_p.M644I|ABCC5_uc010hxl.2_Missense_Mutation_p.M1073I	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1116	Helical; (Potential).|ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAGAACGATCATCAGCCCCG	0.552		NaN											0	0	0	0.00499	0	16	23				
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184099561C>T	uc003fov.2	+	5	815	c.569C>T	c.(568-570)TCG>TTG	p.S190L	CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.S190L|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	190	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662		NaN											0	0	0	0.00245	0	13	26				
VPS8	23355	broad.mit.edu	37	3	184612519	184612519	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184612519A>G	uc003fpb.1	+	22	1975	c.1804A>G	c.(1804-1806)AAA>GAA	p.K602E	VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.K31E	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	604							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GATGTATGATAAATTAAGTGA	0.353		NaN											0	0	0	0.009096	0	3	14				
OPA1	4976	broad.mit.edu	37	3	193372785	193372785	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:193372785C>T	uc003ftm.2	+	20	2216	c.1982C>T	c.(1981-1983)ACT>ATT	p.T661I	OPA1_uc003ftg.2_Missense_Mutation_p.T716I|OPA1_uc003fth.2_Missense_Mutation_p.T680I|OPA1_uc003fti.2_Missense_Mutation_p.T698I|OPA1_uc003ftj.2_Missense_Mutation_p.T679I|OPA1_uc003ftk.2_Missense_Mutation_p.T662I|OPA1_uc003ftl.2_Missense_Mutation_p.T643I|OPA1_uc003ftn.2_Missense_Mutation_p.T625I	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	661	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAACAGTGGACTGATAAACAA	0.368		NaN											0	0	0	0.008871	0	14	27				
ZNF595	152687	broad.mit.edu	37	4	86807	86807	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:86807G>T	uc003fzv.1	+	6	1569	c.1413G>T	c.(1411-1413)AAG>AAT	p.K471N	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.K239N|ZNF595_uc011but.1_Missense_Mutation_p.K239N	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	471					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACGAACATAAGAAAATTCATA	0.388		NaN											1	0	0.00024832	0.009096	0.000257894	4	19				
ZNF595	152687	broad.mit.edu	37	4	87051	87051	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:87051G>C	uc003fzv.1	+	6	1813	c.1657G>C	c.(1657-1659)GAA>CAA	p.E553Q	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E321Q|ZNF595_uc011but.1_Missense_Mutation_p.E321Q	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	553					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGCCCTGAATGAACATAAGAA	0.378		NaN											0	0	0	0.008291	0	10	33				
FAM193A	8603	broad.mit.edu	37	4	2664635	2664635	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:2664635G>A	uc010icl.2	+	9	1294	c.943G>A	c.(943-945)GAT>AAT	p.D315N	FAM193A_uc010ick.2_Missense_Mutation_p.D515N|FAM193A_uc003gfd.2_Missense_Mutation_p.D315N|FAM193A_uc011bvm.1_Missense_Mutation_p.D337N|FAM193A_uc011bvn.1_Missense_Mutation_p.D315N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D169N	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	315										ovary(3)	3						GAGTAATTATGATGATACCGA	0.453		NaN											0	0	0	0.006122	0	18	45				
JAKMIP1	152789	broad.mit.edu	37	4	6107461	6107461	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:6107461G>A	uc003giu.3	-	3	639	c.363C>T	c.(361-363)CGC>CGT	p.R121R	JAKMIP1_uc010idb.1_Silent_p.R121R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R121R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R121R|JAKMIP1_uc010ide.2_Silent_p.R121R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	121	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CCGCGCCGTCGCGCAGCACGT	0.726		NaN											0	0	0	0.001984	0	6	11				
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:8021986C>T	uc003gko.2	-	12	1356	c.1213G>A	c.(1213-1215)GAC>AAC	p.D405N	ABLIM2_uc003gkk.2_Missense_Mutation_p.D68N|ABLIM2_uc003gkl.2_Intron|ABLIM2_uc003gkj.3_Missense_Mutation_p.D438N|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.D405N|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						GGCTTGCTGTCAGAGAGCACG	0.622		NaN											0	0	0	0.001984	0	7	27				
FAM114A1	92689	broad.mit.edu	37	4	38916603	38916603	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:38916603G>C	uc003gtn.2	+	8	1030	c.854G>C	c.(853-855)AGA>ACA	p.R285T	FAM114A1_uc011byh.1_Missense_Mutation_p.R78T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	285						cytoplasm				ovary(1)	1						ACGATGGAGAGAACCGCGCAC	0.468		NaN											0	0	0	0.00245	0	13	21				
N4BP2	55728	broad.mit.edu	37	4	40104102	40104102	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:40104102A>C	uc003guy.3	+	4	975	c.637A>C	c.(637-639)AAC>CAC	p.N213H	N4BP2_uc010ifq.2_Missense_Mutation_p.N133H|N4BP2_uc010ifr.2_Missense_Mutation_p.N133H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	213						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TTTAAGTTTAAACCCATTACC	0.328		NaN											0	0	0	0.006214	0	10	19				
UGT2A3	79799	broad.mit.edu	37	4	69796299	69796299	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69796299T>G	uc003hef.2	-	5	1300	c.1269A>C	c.(1267-1269)TTA>TTC	p.L423F	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	423	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						AAGCCCTCAGTAAATCTTCGC	0.383		NaN											0	0	0	0.001855	0	13	71				
UGT2B7	7364	broad.mit.edu	37	4	69962754	69962754	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69962754C>T	uc003heg.3	+	1	562	c.516C>T	c.(514-516)CTC>CTT	p.L172L	UGT2B7_uc010ihq.2_Silent_p.L172L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	172					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TGTACAGTCTCAGCTTCTCTC	0.398		NaN											0	0	0	0.008871	0	19	65				
FRAS1	80144	broad.mit.edu	37	4	79430001	79430001	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430001C>T	uc003hlb.2	+	63	10061	c.9621C>T	c.(9619-9621)CCC>CCT	p.P3207P	FRAS1_uc003hlc.1_Silent_p.P209P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3202	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTCATTTCCCCAGATACGCTG	0.572		NaN											0	0	0	0.009096	0	4	13				
FRAS1	80144	broad.mit.edu	37	4	79430151	79430151	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430151C>T	uc003hlb.2	+	63	10211	c.9771C>T	c.(9769-9771)GTC>GTT	p.V3257V	FRAS1_uc003hlc.1_Silent_p.V259V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3252	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TCACCAGTGTCAACCACATGG	0.532		NaN											0	0	0	0.001855	0	12	48				
TIGD2	166815	broad.mit.edu	37	4	90034836	90034836	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:90034836C>T	uc003hsk.2	+	1	869	c.711C>T	c.(709-711)TTC>TTT	p.F237F	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	237	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CCCGAGCATTCAAAGGCACTG	0.418		NaN											0	0	0	0.006214	0	10	32				
BMPR1B	658	broad.mit.edu	37	4	96045003	96045003	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:96045003C>T	uc003htm.3	+	7	666	c.392C>T	c.(391-393)TCT>TTT	p.S131F	BMPR1B_uc010ilb.2_Missense_Mutation_p.S131F|BMPR1B_uc003htn.3_Missense_Mutation_p.S131F	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	131	Helical; (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTACTTATATCTGTGACTGTC	0.294		NaN											0	0	0	0.004289	0	30	71				
ADH4	127	broad.mit.edu	37	4	100047780	100047780	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:100047780G>A	uc003hun.2	-	8	1159	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.I380I	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	361					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATGCCTCACTGATTTTGTCAA	0.353		NaN											0	0	0	0.014323	0	17	46				
PPP3CA	5530	broad.mit.edu	37	4	101947192	101947192	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:101947192T>C	uc011cen.1	-	14	2071	c.1396A>G	c.(1396-1398)AAG>GAG	p.K466E	PPP3CA_uc003hvu.2_Missense_Mutation_p.K456E|PPP3CA_uc010ilj.2_Missense_Mutation_p.K414E|PPP3CA_uc003hvt.2_Missense_Mutation_p.K443E|PPP3CA_uc003hvs.2_Missense_Mutation_p.K399E|PPP3CA_uc010ilk.2_Missense_Mutation_p.K234E	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	466	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTAGTGATCTTATGTTGTGGT	0.443		NaN											0	0	0	0.004007	0	14	42				
NFKB1	4790	broad.mit.edu	37	4	103534637	103534637	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:103534637C>T	uc011ceq.1	+	23	3112	c.2645C>T	c.(2644-2646)ACC>ATC	p.T882I	NFKB1_uc011cep.1_Missense_Mutation_p.T883I|NFKB1_uc011cer.1_Missense_Mutation_p.T702I	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	882	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ATGGGCTACACCGAAGCAATT	0.562		NaN											0	0	0	0.009096	0	4	27				
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:110737358G>C	uc003hzt.2	+	2	345	c.38G>C	c.(37-39)CGA>CCA	p.R13P	GAR1_uc003hzu.2_Missense_Mutation_p.R13P|GAR1_uc010imh.1_Missense_Mutation_p.R13P|GAR1_uc010imi.2_Missense_Mutation_p.R13P	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	13	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						GGCTTTAATCGAggtggtgga	0.234		NaN											0	0	0	0.012319	0	22	44				
NAA15	80155	broad.mit.edu	37	4	140299923	140299923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:140299923G>A	uc003ihu.1	+	17	2326	c.2070G>A	c.(2068-2070)TTG>TTA	p.L690L		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	690	TPR 8.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						AGTTTCTTTTGATGCTACAAT	0.338		NaN											0	0	0	0.013537	0	13	30				
PRMT10	90826	broad.mit.edu	37	4	148605049	148605049	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:148605049C>T	uc003ilc.2	-	1	232	c.90G>A	c.(88-90)CAG>CAA	p.Q30Q	PRMT10_uc003ild.2_5'UTR	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	30	TPR 1.					cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						GCTCTGCGCTCTGCAAGGACC	0.692		NaN											0	0	0	0.00245	0	15	34				
DCHS2	54798	broad.mit.edu	37	4	155305519	155305519	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155305519C>T	uc003inw.2	-	2	234	c.234_splice	c.e2+1	p.E78_splice	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		actgacctcacctcagtttcc	0		NaN											0	0	0	0.00245	0	11	32				
FGB	2244	broad.mit.edu	37	4	155487699	155487699	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155487699C>A	uc003ioa.3	+	3	404	c.365C>A	c.(364-366)CCA>CAA	p.P122Q	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.P119Q|FGB_uc010ipv.2_Missense_Mutation_p.P60Q|FGB_uc010ipw.2_Missense_Mutation_p.P119Q|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	122					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGGAAAGGCCAATCAGAAAT	0.418		NaN											1	0	0.000308642	0.003163	0.000319004	15	34				
FNIP2	57600	broad.mit.edu	37	4	159747136	159747136	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:159747136G>A	uc003iqe.3	+	2	359	c.176G>A	c.(175-177)GGC>GAC	p.G59D	FNIP2_uc003iqd.2_Missense_Mutation_p.G59D	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	59					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GACAGGAGAGGCAGACAAGTC	0.413		NaN											0	0	0	0.003755	0	36	81				
FSTL5	56884	broad.mit.edu	37	4	162697045	162697045	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:162697045A>C	uc003iqh.2	-	5	1027	c.591T>G	c.(589-591)ATT>ATG	p.I197M	FSTL5_uc003iqi.2_Missense_Mutation_p.I196M|FSTL5_uc010iqv.2_Missense_Mutation_p.I196M	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	197	1 (Potential).|EF-hand 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTTCATTAATATCTACAA	0.289		NaN											0	0	0	0.000602	0	4	27				
NPY1R	4886	broad.mit.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:164246583G>C	uc003iqm.1	-	3	1293	c.1027C>G	c.(1027-1029)CGG>GGG	p.R343G	NPY1R_uc011cjj.1_Missense_Mutation_p.R100G	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393		NaN											0	0	0	0.007413	0	20	54				
TRIM60	166655	broad.mit.edu	37	4	165961621	165961621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:165961621A>G	uc003iqy.1	+	3	567	c.397A>G	c.(397-399)ATT>GTT	p.I133V	TRIM60_uc010iqx.1_Missense_Mutation_p.I133V	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	133	B box-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CATTTGCCCTATTAAGAAAGC	0.398		NaN											0	0	0	0.010729	0	11	26				
SPOCK3	50859	broad.mit.edu	37	4	167921549	167921549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:167921549G>A	uc003iri.1	-	5	451	c.310C>T	c.(310-312)CAA>TAA	p.Q104*	SPOCK3_uc011cjp.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.Q113*|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.Q53*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.Q12*|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjw.1_RNA	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	104					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGAGAATCTTGAGCAATGCAT	0.378		NaN											0	0	0	0.010504	0	19	33				
DDX60L	91351	broad.mit.edu	37	4	169296610	169296610	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:169296610C>T	uc003irq.3	-	34	4772	c.4551G>A	c.(4549-4551)ATG>ATA	p.M1517I		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1517							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAAATCCTTCATTACTGCCA	0.408		NaN											0	0	0	0.000602	0	4	14				
ODZ3	55714	broad.mit.edu	37	4	183267957	183267957	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:183267957A>G	uc003ivd.1	+	2	423	c.386A>G	c.(385-387)GAG>GGG	p.E129G	ODZ3_uc010irv.1_Missense_Mutation_p.E129G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	129	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGTCCCCAGAGCATGCCATG	0.557		NaN											0	0	0	0.001984	0	7	6				
FAT1	2195	broad.mit.edu	37	4	187628629	187628629	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:187628629T>C	uc003izf.2	-	2	2541	c.2353A>G	c.(2353-2355)ACA>GCA	p.T785A	FAT1_uc010iso.1_Missense_Mutation_p.T785A	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	785	Extracellular (Potential).|Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TATTTGTCTGTTGTTTCACGG	0.433		NaN								HNSCC(5;0.00058)			0	0	0	0.004656	0	26	85				
KIAA0947	23379	broad.mit.edu	37	5	5460633	5460633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:5460633G>A	uc003jdm.3	+	13	1408	c.1186G>A	c.(1186-1188)GAT>AAT	p.D396N		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	396										ovary(1)|central_nervous_system(1)	2						TTCAGAAGATGATACAACTGA	0.373		NaN											0	0	0	0.009096	0	4	6				
RICTOR	253260	broad.mit.edu	37	5	38963033	38963033	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:38963033G>C	uc003jlp.2	-	17	1535	c.1511C>G	c.(1510-1512)ACA>AGA	p.T504R	RICTOR_uc003jlo.2_Missense_Mutation_p.T504R|RICTOR_uc010ivf.2_Missense_Mutation_p.T219R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	504					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TTTCTGGTGTGTTGCAATTGC	0.368		NaN											0	0	0	0.014323	0	21	33				
SLC38A9	153129	broad.mit.edu	37	5	54922436	54922436	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:54922436G>A	uc003jqf.2	-	16	1773	c.1572C>T	c.(1570-1572)CTC>CTT	p.L524L	SLC38A9_uc003jqd.2_Silent_p.L461L|SLC38A9_uc010ivx.2_Silent_p.L461L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L395L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	524	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTATATAGATGAGAGATGGGT	0.398		NaN											0	0	0	0.004289	0	32	58				
F2R	2149	broad.mit.edu	37	5	76028967	76028967	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:76028967G>T	uc003ken.3	+	2	1182	c.917G>T	c.(916-918)AGC>ATC	p.S306I		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	306	Cytoplasmic (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCCAACCGCAGCAAGAAGTCC	0.488		NaN											1	0	1.17739e-12	0.005443	1.26233e-12	28	31				
ARSK	153642	broad.mit.edu	37	5	94891054	94891054	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:94891054G>A	uc003kld.2	+	1	230	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_RNA|TTC37_uc003klb.2_5'Flank|TTC37_uc010jbf.1_5'Flank|ARSK_uc003klc.2_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	24						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGGGGAGCAGAGGCGGAGAG	0.697		NaN											0	0	0	0.001168	0	6	20				
CHD1	1105	broad.mit.edu	37	5	98195774	98195774	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:98195774T>C	uc003knf.2	-	32	4576	c.4428_splice	c.e32-1	p.K1476_splice	CHD1_uc010jbn.2_Splice_Site_p.K202_splice	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACAGGTTTCTAGAAGAATTT	0.313		NaN											0	0	0	0.001984	0	7	31				
SLC25A46	91137	broad.mit.edu	37	5	110091194	110091194	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:110091194A>G	uc003koz.2	+	6	660	c.593A>G	c.(592-594)CAA>CGA	p.Q198R	SLC25A46_uc011cvi.1_Missense_Mutation_p.Q107R	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	198					transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTCCTAAACAAATAGGAGAA	0.279		NaN											0	0	0	0.012319	0	16	39				
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:112154981G>T	uc010jby.2	+	10	1632	c.1252G>T	c.(1252-1254)GAA>TAA	p.E418*	APC_uc011cvt.1_Nonsense_Mutation_p.E400*|APC_uc003kpz.3_Nonsense_Mutation_p.E418*|APC_uc003kpy.3_Nonsense_Mutation_p.E418*|APC_uc010jbz.2_Nonsense_Mutation_p.E135*|APC_uc010jca.2_5'Flank	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			1	0	7.53189e-24	0.007835	8.1564e-24	36	30		Valid		
CAMLG	819	broad.mit.edu	37	5	134074448	134074448	+	Silent	SNP	G	G	A	rs146867024		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:134074448G>A	uc003kzt.2	+	1	243	c.138G>A	c.(136-138)CGG>CGA	p.R46R	CAMLG_uc003kzu.2_Silent_p.R46R	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	46	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCATCAACCGGATCATGGGCT	0.637		NaN											0	0	0	0.000602	0	5	44				
CXCL14	9547	broad.mit.edu	37	5	134914132	134914132	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:134914132C>A	uc003lay.2	-	2	663	c.198G>T	c.(196-198)AAG>AAT	p.K66N		NM_004887	NP_004878	O95715	CXL14_HUMAN	small inducible cytokine B14 precursor	66					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACATAACCATCTTCTCCTCGC	0.572		NaN											1	0	8.58068e-18	0.007291	9.26886e-18	29	66				
APBB3	10307	broad.mit.edu	37	5	139938224	139938224	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:139938224G>C	uc003lgd.1	-	12	1781	c.1422C>G	c.(1420-1422)GTC>GTG	p.V474V	SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Silent_p.V246V|APBB3_uc003lgc.1_Silent_p.V246V|APBB3_uc003lge.1_Silent_p.V467V|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Silent_p.V246V	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	469						actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597		NaN											0	0	0	0.006999	0	41	66				
PCDHA10	56139	broad.mit.edu	37	5	140237513	140237513	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140237513C>T	uc003lhx.2	+	1	1880	c.1880C>T	c.(1879-1881)ACG>ATG	p.T627M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.T627M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGTACACGGGCGAGATC	0.647		NaN											0	0	0	0.003163	0	15	3				
PCDHGB1	56104	broad.mit.edu	37	5	140730558	140730558	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140730558A>G	uc003ljo.1	+	1	731	c.731A>G	c.(730-732)TAC>TGC	p.Y244C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.Y244C	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	244	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGTATACAGGGTTAGC	0.567		NaN											0	0	0	0.004007	0	16	46				
PCDH1	5097	broad.mit.edu	37	5	141244801	141244801	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:141244801G>A	uc003llq.2	-	3	1212	c.1095C>T	c.(1093-1095)AAC>AAT	p.N365N	PCDH1_uc003llp.2_Silent_p.N365N|PCDH1_uc011dbf.1_Silent_p.N343N	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	365	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACTCTTGGGGTTGGTGCCTC	0.577		NaN											0	0	0	0.014323	0	19	104				
RBM27	54439	broad.mit.edu	37	5	145634557	145634557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145634557C>T	uc003lnz.3	+	10	1662	c.1496C>T	c.(1495-1497)TCT>TTT	p.S499F	RBM27_uc003lny.2_Missense_Mutation_p.S444F	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	499					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACTAGTTCTGGTAGATCT	0.408		NaN											0	0	0	0.007413	0	16	31				
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	G	T	rs147138565	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145895361G>T	uc003lod.1	-	1	316	c.316C>A	c.(316-318)CTA>ATA	p.L106I		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAGCCTAGATCCCAAACA	0.507		NaN											1	0	1.5842e-08	0.001855	1.67351e-08	14	60				
PCYOX1L	78991	broad.mit.edu	37	5	148743624	148743624	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:148743624G>C	uc003lqk.2	+	3	383	c.321G>C	c.(319-321)GTG>GTC	p.V107V	PCYOX1L_uc003lql.2_Silent_p.V90V|PCYOX1L_uc010jgz.2_Silent_p.V90V|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_Silent_p.V17V	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like precursor	107					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGTGGTGGGCAGGAGCG	0.617		NaN											0	0	0	0.013537	0	11	60				
ZNF300	91975	broad.mit.edu	37	5	150275006	150275006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:150275006G>A	uc003lsy.1	-	6	2062	c.1795C>T	c.(1795-1797)CAC>TAC	p.H599Y	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	599	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACTGTGTGAATTCTCTGG	0.388		NaN											0	0	0	0.00308	0	7	46				
NMUR2	56923	broad.mit.edu	37	5	151784387	151784387	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:151784387G>T	uc003luv.2	-	1	454	c.288C>A	c.(286-288)CTC>CTA	p.L96L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	96	Helical; Name=2; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCATTCCAAGGAGCAGGACCA	0.577		NaN											1	0	1.90571e-15	0.004289	2.04828e-15	33	65				
LSM11	134353	broad.mit.edu	37	5	157171172	157171172	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:157171172G>A	uc003lxe.1	+	1	418	c.414G>A	c.(412-414)AGG>AGA	p.R138R		NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	138					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGAGCAGGAAGGCGCCAC	0.751		NaN											0	0	0	0.004672	0	3	4				
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:160033923C>G	uc003lym.1	-	19	3856	c.3009G>C	c.(3007-3009)TTG>TTC	p.L1003F	ATP10B_uc010jit.1_Missense_Mutation_p.L320F	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512		NaN											0	0	0	0.00245	0	12	88				
HMMR	3161	broad.mit.edu	37	5	162894721	162894721	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:162894721G>A	uc003lzf.2	+	4	419	c.237G>A	c.(235-237)AAG>AAA	p.K79K	HMMR_uc003lzh.2_Silent_p.K80K|HMMR_uc003lzg.2_Intron|HMMR_uc011dem.1_Intron	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	79						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATCTCAAAAGAATGATAAAG	0.294		NaN											0	0	0	0.004672	0	3	19				
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:168175367C>T	uc003mab.2	-	20	2630	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	SLIT3_uc010jjg.2_Missense_Mutation_p.R737Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642		NaN											0	0	0	0.004289	0	36	64				
TLX3	30012	broad.mit.edu	37	5	170736467	170736467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:170736467C>T	uc003mbf.2	+	1	180	c.98C>T	c.(97-99)CCC>CTC	p.P33L	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAGCGCACCCGCCCCGCGG	0.751		NaN	T	BCL11B	T-ALL								0	0	0	0.004672	0	3	12				
RPL26L1	51121	broad.mit.edu	37	5	172386963	172386963	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:172386963C>T	uc003mcc.2	+	2	129	c.87C>T	c.(85-87)ATC>ATT	p.I29I	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGAAGATCATGTCATCCC	0.577		NaN											0	0	0	0.003271	0	31	87				
RGS14	10636	broad.mit.edu	37	5	176798587	176798587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176798587G>A	uc003mgf.2	+	14	1677	c.1495G>A	c.(1495-1497)GAA>AAA	p.E499K	RGS14_uc003mgh.2_Missense_Mutation_p.E347K|RGS14_uc003mgi.2_Missense_Mutation_p.E270K|RGS14_uc003mgj.2_RNA	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	499	GoLoco.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGACATCGAAGGTACATG	0.587		NaN											0	0	0	0.00623	0	40	58				
F12	2161	broad.mit.edu	37	5	176831015	176831015	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176831015C>T	uc003mgo.3	-	10	1144	c.1095G>A	c.(1093-1095)AAG>AAA	p.K365K	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	365					Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACAGACTCTTGCGGAGCC	0.701		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	8	31				
MAML1	9794	broad.mit.edu	37	5	179195951	179195951	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:179195951A>G	uc003mkm.2	+	3	2095	c.1832A>G	c.(1831-1833)TAT>TGT	p.Y611C	MAML1_uc003mkn.1_Missense_Mutation_p.Y611C	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	611					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCCCCCTATCTCAGCAGC	0.572		NaN											0	0	0	0.01441	0	55	83				
TRIM41	90933	broad.mit.edu	37	5	180660709	180660709	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:180660709C>T	uc003mne.1	+	5	1931	c.1237C>T	c.(1237-1239)CTG>TTG	p.L413L	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.L413L|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_5'UTR	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	413	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATGACTTCCTGACAGATGC	0.602		NaN											0	0	0	0.004007	0	15	51				
PHACTR1	221692	broad.mit.edu	37	6	13206114	13206114	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:13206114A>G	uc010jpc.2	+	8	1064	c.732A>G	c.(730-732)AAA>AAG	p.K244K	PHACTR1_uc011dir.1_Silent_p.K313K|PHACTR1_uc003nag.1_Silent_p.K244K|PHACTR1_uc003nah.1_Silent_p.K244K	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	244						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCCAAAGAAAGTCATGATCT	0.592		NaN											0	0	0	0.010818	0	28	33				
PPP1R10	5514	broad.mit.edu	37	6	30569384	30569384	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30569384C>T	uc003nqn.1	-	20	3317	c.2765G>A	c.(2764-2766)CGC>CAC	p.R922H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R576H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	922	C3H1-type.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GTTCTCATAGCGGCAGTTGCC	0.552		NaN											0	0	0	0.00245	0	12	14				
VARS2	57176	broad.mit.edu	37	6	30884903	30884903	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30884903G>A	uc003nsc.1	+	8	1407	c.775G>A	c.(775-777)GAA>AAA	p.E259K	VARS2_uc003nsd.2_Missense_Mutation_p.E259K|VARS2_uc011dmx.1_Missense_Mutation_p.E259K|VARS2_uc011dmy.1_Missense_Mutation_p.E119K|VARS2_uc011dmz.1_Missense_Mutation_p.E289K|VARS2_uc011dna.1_Missense_Mutation_p.E259K|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	259					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GGCTGTGACTGAAGCTTTTGT	0.547		NaN											0	0	0	0.011902	0	43	37				
C6orf47	57827	broad.mit.edu	37	6	31627076	31627076	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:31627076G>C	uc003nvm.1	-	1	1474	c.649C>G	c.(649-651)CTC>GTC	p.L217V		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	217										ovary(1)	1						TGTAGCCAGAGGCCCAGCGGT	0.637		NaN											0	0	0	0.00499	0	16	18				
HLA-DQB1	3119	broad.mit.edu	37	6	32632653	32632653	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32632653C>T	uc003obw.2	-	2	383	c.301G>A	c.(301-303)GAG>AAG	p.E101K	HLA-DQB1_uc010juc.1_Missense_Mutation_p.E56K|HLA-DQB1_uc003obv.2_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqe.1_Missense_Mutation_p.E101K	NM_002123	NP_002114	P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ	101	Extracellular (Potential).|Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGTCCCCTCCAGGACTTCC	0.672		NaN							Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome				0	0	0	0.008291	0	3	3				
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32815407G>A	uc003ocg.2	-	9	2121	c.1966C>T	c.(1966-1968)CAA>TAA	p.Q656*	PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395*	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	656	Cytoplasmic (Potential).|ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						ATATTTTCTTGAAGACTTCTT	0.468		NaN											0	0	0	0.006122	0	17	25				
HLA-DMB	3109	broad.mit.edu	37	6	32908579	32908579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32908579G>A	uc003ocl.1	-	1	239	c.6C>T	c.(4-6)ATC>ATT	p.I2I	HLA-DMB_uc003ocj.1_Silent_p.I2I|HLA-DMB_uc011dql.1_Silent_p.I2I	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	2					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						GCAGGAATGTGATCATGCTCT	0.622		NaN											0	0	0	0.004672	0	3	6				
ZBTB22	9278	broad.mit.edu	37	6	33284074	33284074	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33284074T>C	uc003oeb.2	-	2	772	c.620A>G	c.(619-621)AAC>AGC	p.N207S	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.N207S	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGAAGTAGTTGCTGCTGCT	0.627		NaN											0	0	0	0.006122	0	19	17				
KIFC1	3833	broad.mit.edu	37	6	33371898	33371898	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33371898G>A	uc003oef.3	+	6	1198	c.748G>A	c.(748-750)GAG>AAG	p.E250K	KIFC1_uc011drf.1_Missense_Mutation_p.E242K	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	250	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CCAACTAGAGGAGAAGGAGGT	0.572		NaN											0	0	0	0.004007	0	14	16				
C6orf222	389384	broad.mit.edu	37	6	36287385	36287385	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:36287385G>A	uc003oly.2	-	11	1849	c.1671C>T	c.(1669-1671)ATC>ATT	p.I557I		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	557										skin(2)|ovary(1)|breast(1)	4						GGTGGCGCCTGATCTGGAAGT	0.582		NaN											0	0	0	0.012319	0	19	34				
ROS1	6098	broad.mit.edu	37	6	117631384	117631384	+	Silent	SNP	C	C	A	rs148504976		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117631384C>A	uc003pxp.1	-	40	6493	c.6294G>T	c.(6292-6294)GTG>GTT	p.V2098V	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2098	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V2098V(1)		lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCCAATCTTCACTATCCGTG	0.408		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								1	0	1.51943e-15	0.01441	1.63514e-15	45	37				
ROS1	6098	broad.mit.edu	37	6	117683996	117683996	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117683996T>C	uc003pxp.1	-	21	3350	c.3151A>G	c.(3151-3153)ATA>GTA	p.I1051V	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1051	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTAATATAAATATTCTG	0.348		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.001855	0	14	11				
TRMT11	60487	broad.mit.edu	37	6	126320655	126320655	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:126320655A>G	uc003qam.2	+	7	696	c.575A>G	c.(574-576)CAC>CGC	p.H192R	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.H192R	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	192					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		AAAAAGAGACACTTTATTGGA	0.338		NaN											0	0	0	0.010818	0	32	16				
SAMD3	154075	broad.mit.edu	37	6	130465682	130465682	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:130465682G>T	uc003qbv.2	-	13	1872	c.1546C>A	c.(1546-1548)CAG>AAG	p.Q516K	SAMD3_uc003qbx.2_Missense_Mutation_p.Q516K|SAMD3_uc003qbw.2_Missense_Mutation_p.Q516K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	516										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTGGGTGCTGAAATCCTACT	0.368		NaN											1	0	3.07112e-06	0.010729	3.20885e-06	9	26				
EPB41L2	2037	broad.mit.edu	37	6	131216209	131216209	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:131216209G>C	uc003qch.2	-	9	1469	c.1287C>G	c.(1285-1287)CTC>CTG	p.L429L	EPB41L2_uc003qcg.1_Silent_p.L429L|EPB41L2_uc011eby.1_Silent_p.L429L|EPB41L2_uc003qci.2_Silent_p.L429L|EPB41L2_uc010kfk.2_Silent_p.L429L|EPB41L2_uc010kfl.1_Silent_p.L429L	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	429	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTTGTAAATGAGAAGTCCAT	0.423		NaN											0	0	0	0.01441	0	49	34				
UTRN	7402	broad.mit.edu	37	6	144898326	144898326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:144898326G>A	uc003qkt.2	+	50	7473	c.7381G>A	c.(7381-7383)GAA>AAA	p.E2461K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2461	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGGATCCAAGAAGCAGAGAC	0.512		NaN											0	0	0	0.014323	0	22	20				
TIAM2	26230	broad.mit.edu	37	6	155561805	155561805	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:155561805A>G	uc003qqb.2	+	18	4583	c.3310A>G	c.(3310-3312)ATC>GTC	p.I1104V	TIAM2_uc003qqe.2_Missense_Mutation_p.I1104V|TIAM2_uc010kjj.2_Missense_Mutation_p.I637V|TIAM2_uc003qqf.2_Missense_Mutation_p.I480V|TIAM2_uc011efl.1_Missense_Mutation_p.I440V|TIAM2_uc003qqg.2_Missense_Mutation_p.I416V|TIAM2_uc003qqh.2_Missense_Mutation_p.I29V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1104	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGCAAAGTCATCCAGGAGCT	0.567		NaN											0	0	0	0.008871	0	16	24				
SERAC1	84947	broad.mit.edu	37	6	158565401	158565401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:158565401C>T	uc003qrc.2	-	7	681	c.539G>A	c.(538-540)GGT>GAT	p.G180D	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	180					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGTGCCAAACCAATAAGAGT	0.343		NaN											0	0	0	0.007413	0	18	19				
WDR27	253769	broad.mit.edu	37	6	170047876	170047876	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170047876C>G	uc003qwx.2	-	16	2170	c.1650G>C	c.(1648-1650)CAG>CAC	p.Q550H	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.Q550H|WDR27_uc003qwy.2_Missense_Mutation_p.Q423H			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	520	WD 5.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CACCTGAGTACTGGATGCAGC	0.562		NaN											0	0	0	0.009096	0	4	2				
DLL1	28514	broad.mit.edu	37	6	170597489	170597489	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170597489C>T	uc003qxm.2	-	4	978	c.508G>A	c.(508-510)GAC>AAC	p.D170N	DLL1_uc011ehc.1_Missense_Mutation_p.D170N	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	170	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACTTGAGGTCCGTGCGGCCG	0.627		NaN											0	0	0	0.014323	0	21	21				
EIF3B	8662	broad.mit.edu	37	7	2400441	2400441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:2400441G>A	uc003slx.2	+	2	679	c.596G>A	c.(595-597)CGA>CAA	p.R199Q	EIF3B_uc003sly.2_Missense_Mutation_p.R199Q|EIF3B_uc003slz.1_Missense_Mutation_p.R160Q|EIF3B_uc003sma.2_5'UTR	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	199	Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGACCCGACCGACTTGAGAAA	0.443		NaN											0	0	0	0.012319	0	22	45				
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5338755G>A	uc003sod.2	+	8	1180	c.1019G>A	c.(1018-1020)AGA>AAA	p.R340K	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.R340K|SLC29A4_uc003soe.2_Missense_Mutation_p.R326K|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	340	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCACCTTCAGAGGTGAGTGC	0.721		NaN											0	0	0	0.00308	0	7	20				
RNF216	54476	broad.mit.edu	37	7	5760771	5760771	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5760771G>A	uc003soy.1	-	9	1556	c.1366C>T	c.(1366-1368)CTT>TTT	p.L456F	RNF216_uc010ksz.1_Missense_Mutation_p.L78F|RNF216_uc010kta.1_Missense_Mutation_p.L78F|RNF216_uc011jwj.1_Missense_Mutation_p.L78F|RNF216_uc003sox.1_Missense_Mutation_p.L513F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	456					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTATTTTCAAGAAAGAACATC	0.428		NaN											0	0	0	0.00278	0	23	49				
DNAH11	8701	broad.mit.edu	37	7	21639522	21639522	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:21639522T>A	uc003svc.2	+	15	2816	c.2785T>A	c.(2785-2787)TTC>ATC	p.F929I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CGACTTAGACTTCTTTCTGAA	0.398		NaN							Kartagener_syndrome				0	0	0	0.000602	0	5	32				
TRIL	9865	broad.mit.edu	37	7	28996568	28996568	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:28996568G>A	uc003szt.2	-	3	1462	c.1095C>T	c.(1093-1095)TGC>TGT	p.C365C	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	365	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						CTCGCAGCCGGCAGTCGCAGG	0.687		NaN											0	0	0	0.009096	0	4	10				
NEUROD6	63974	broad.mit.edu	37	7	31378784	31378784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:31378784C>A	uc003tch.2	-	2	452	c.99G>T	c.(97-99)AAG>AAT	p.K33N		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	33					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						AGCTTTCTGGCTTCTTAATTT	0.343		NaN											1	0	2.24893e-16	0.009718	2.42626e-16	44	110				
TMED4	222068	broad.mit.edu	37	7	44620691	44620691	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44620691C>T	uc003tli.2	-	4	556	c.534_splice	c.e4+1	p.R178_splice	TMED4_uc003tlj.2_Missense_Mutation_p.A120T|TMED4_uc003tlk.2_Missense_Mutation_p.A179T|uc003tll.2_5'Flank	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain						positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity				0						TATGCACTTGCCCTTTGGTAA	0.483		NaN											0	0	0	0.007413	0	17	43				
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44739760C>T	uc003tln.2	+	19	2560	c.2451C>T	c.(2449-2451)TTC>TTT	p.F817F	OGDH_uc011kbx.1_Silent_p.F813F|OGDH_uc011kby.1_Silent_p.F667F|OGDH_uc003tlp.2_Silent_p.F828F|OGDH_uc011kbz.1_Silent_p.F612F	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	817					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AAGCCAACTTCGACATCAATC	0.532		NaN											0	0	0	0.007835	0	39	69				
TYW1B	441250	broad.mit.edu	37	7	72277753	72277753	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:72277753C>T	uc011kej.1	-	5	788	c.629G>A	c.(628-630)TGC>TAC	p.C210Y	TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_RNA	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	210					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0						GCCTTTCTTGCAGTGGCCGCC	0.517		NaN											0	0	0	0.00308	0	8	20				
WBSCR27	155368	broad.mit.edu	37	7	73255423	73255423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:73255423C>T	uc003tzj.2	-	3	269	c.229G>A	c.(229-231)GGC>AGC	p.G77S	RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Missense_Mutation_p.G77S	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	77										central_nervous_system(1)	1		Lung NSC(55;0.159)				AGGCCTGTGCCACAGGCCACG	0.662		NaN											0	0	0	0.000602	0	5	13				
PTPN12	5782	broad.mit.edu	37	7	77230076	77230076	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:77230076G>A	uc003ugh.2	+	8	739	c.648G>A	c.(646-648)ATG>ATA	p.M216I	PTPN12_uc011kgp.1_Missense_Mutation_p.M97I|PTPN12_uc011kgq.1_Missense_Mutation_p.M86I	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	216	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TAAGCTTAATGAGGAAATATC	0.328		NaN											0	0	0	0.004672	0	3	25				
CD36	948	broad.mit.edu	37	7	80301250	80301250	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:80301250A>G	uc003uhc.2	+	14	1703	c.1019A>G	c.(1018-1020)TAC>TGC	p.Y340C	CD36_uc003uhd.3_Missense_Mutation_p.Y340C|CD36_uc011kgv.1_Missense_Mutation_p.Y264C|CD36_uc003uhe.3_Missense_Mutation_p.Y340C|CD36_uc003uhf.3_Missense_Mutation_p.Y340C|CD36_uc003uhg.3_Missense_Mutation_p.Y340C|CD36_uc003uhh.3_Missense_Mutation_p.Y340C	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	340	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						AGACCTGTGTACATTTCACTT	0.328		NaN											0	0	0	0.008291	0	10	41				
SEMA3A	10371	broad.mit.edu	37	7	83823856	83823856	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:83823856A>C	uc003uhz.2	-	1	362	c.47T>G	c.(46-48)CTT>CGT	p.L16R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	16					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCTTGCTGTAAGTAATACTCC	0.408		NaN											0	0	0	0.007291	0	25	77				
SEMA3D	223117	broad.mit.edu	37	7	84649547	84649547	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:84649547A>G	uc003uic.2	-	12	1543	c.1503_splice	c.e12+1	p.K501_splice	SEMA3D_uc010led.2_Splice_Site_p.K501_splice|SEMA3D_uc003uib.2_Splice_Site_p.K140_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						ACTGAGTCTTACCTTGAATAT	0.413		NaN											0	0	0	0.001168	0	6	28				
CYP3A4	1576	broad.mit.edu	37	7	99358539	99358539	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99358539C>T	uc003urv.1	-	12	1423	c.1319G>A	c.(1318-1320)AGA>AAA	p.R440K	CYP3A4_uc003urw.1_Missense_Mutation_p.R439K|CYP3A4_uc011kiz.1_Missense_Mutation_p.R399K|CYP3A4_uc011kja.1_Missense_Mutation_p.R391K|CYP3A4_uc011kjb.1_Missense_Mutation_p.R290K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	440					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATGCAGTTTCTGGGTCCACT	0.393		NaN											0	0	0	0.01441	0	44	68				
CYP3A4	1576	broad.mit.edu	37	7	99359668	99359668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99359668C>G	uc003urv.1	-	11	1353	c.1249G>C	c.(1249-1251)GAA>CAA	p.E417Q	CYP3A4_uc003urw.1_Missense_Mutation_p.E416Q|CYP3A4_uc011kiz.1_Missense_Mutation_p.E376Q|CYP3A4_uc011kja.1_Missense_Mutation_p.E368Q|CYP3A4_uc011kjb.1_Missense_Mutation_p.E267Q	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	417					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGTACCTTTCAGGGAGGAAC	0.507		NaN											0	0	0	0.00632	0	25	91				
OR2AE1	81392	broad.mit.edu	37	7	99473945	99473945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99473945C>G	uc003usc.1	-	1	712	c.712G>C	c.(712-714)GCC>CCC	p.A238P		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCACAAGTGGCAAAGGCATTT	0.498		NaN											0	0	0	0.004482	0	8	35				
MUC17	140453	broad.mit.edu	37	7	100684143	100684143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:100684143C>T	uc003uxp.1	+	3	9499	c.9446C>T	c.(9445-9447)TCT>TTT	p.S3149F	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3149	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACAACTTCTGAAGGTACC	0.488		NaN											0	0	0	0.01441	0	68	311				
LAMB1	3912	broad.mit.edu	37	7	107594021	107594021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:107594021G>A	uc003vew.2	-	22	3368	c.3033C>T	c.(3031-3033)TTC>TTT	p.F1011F	LAMB1_uc003vev.2_Silent_p.F1035F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1011	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAACCGGCAGAACTGACAGT	0.493		NaN											0	0	0	0.01441	0	47	36				
DOCK4	9732	broad.mit.edu	37	7	111541741	111541741	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:111541741T>C	uc003vfx.2	-	14	1578	c.1309A>G	c.(1309-1311)ACC>GCC	p.T437A	DOCK4_uc003vfy.2_Missense_Mutation_p.T437A|DOCK4_uc003vga.1_Missense_Mutation_p.T42A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	437	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ACCTTCAGGGTTTGGCCACTA	0.358		NaN											0	0	0	0.008291	0	11	39				
AASS	10157	broad.mit.edu	37	7	121738842	121738842	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:121738842T>C	uc003vka.2	-	13	1581	c.1485A>G	c.(1483-1485)GTA>GTG	p.V495V	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.V495V|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	495	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATATTCTAATACAGGCTCAG	0.328		NaN											0	0	0	0.013537	0	12	61				
PAX4	5078	broad.mit.edu	37	7	127251629	127251629	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:127251629C>T	uc010lld.1	-	8	1055	c.849G>A	c.(847-849)CTG>CTA	p.L283L	PAX4_uc003vmf.2_Silent_p.L281L|PAX4_uc003vmg.1_Silent_p.L283L	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	291	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGTGTCACTCAGACACCTTT	0.607		NaN											0	0	0	0.008871	0	20	105				
PLXNA4	91584	broad.mit.edu	37	7	131853207	131853207	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:131853207C>T	uc003vra.3	-	22	4371	c.4142G>A	c.(4141-4143)CGC>CAC	p.R1381H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1381	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GCCACGGTCGCGCATGGAGAA	0.582		NaN											0	0	0	0.004482	0	6	43				
EXOC4	60412	broad.mit.edu	37	7	133622721	133622721	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:133622721G>T	uc003vrk.2	+	14	2140	c.2105G>T	c.(2104-2106)CGT>CTT	p.R702L	EXOC4_uc011kpo.1_Missense_Mutation_p.R601L|EXOC4_uc003vrl.2_Missense_Mutation_p.R312L|EXOC4_uc011kpp.1_Missense_Mutation_p.R234L|EXOC4_uc011kpq.1_5'UTR	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	702					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GACATCCTTCGTGACGTCAGT	0.458		NaN											1	0	0.000673444	0.008291	0.000694388	11	78				
WDR91	29062	broad.mit.edu	37	7	134894412	134894412	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:134894412G>A	uc003vsp.2	-	2	281	c.219C>T	c.(217-219)TTC>TTT	p.F73F	WDR91_uc010lmq.2_5'Flank|WDR91_uc010lmr.2_5'Flank	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	73										breast(2)|ovary(1)|skin(1)	4						CCAAGCGGCTGAAGAGCCGAC	0.493		NaN											0	0	0	0.01441	0	46	83				
MLL3	58508	broad.mit.edu	37	7	151945668	151945668	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:151945668T>C	uc003wla.2	-	14	2070	c.1851A>G	c.(1849-1851)AAA>AAG	p.K617K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	617					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAGAAATCTGTTTTTCCAATT	0.308		NaN	N		medulloblastoma								0	0	0	0.009096	0	4	29				
ANGPT2	285	broad.mit.edu	37	8	6378704	6378704	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:6378704G>C	uc003wqj.3	-	4	1123	c.794C>G	c.(793-795)TCA>TGA	p.S265*	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Nonsense_Mutation_p.S265*|ANGPT2_uc010lri.2_Nonsense_Mutation_p.S213*|ANGPT2_uc003wql.3_Nonsense_Mutation_p.S265*	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	265					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTTACAGTTTGATGTGGACAT	0.353		NaN											0	0	0	0.001984	0	6	26				
MTUS1	57509	broad.mit.edu	37	8	17612302	17612302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:17612302C>T	uc003wxv.2	-	2	1489	c.1015G>A	c.(1015-1017)GAG>AAG	p.E339K	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E339K|MTUS1_uc010lsz.2_Missense_Mutation_p.E339K	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	339						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GACACTGTCTCTCTCAGATTT	0.423		NaN											0	0	0	0.004656	0	28	42				
TNFRSF10C	8794	broad.mit.edu	37	8	22972236	22972236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:22972236C>T	uc003xcy.2	+	3	434	c.233C>T	c.(232-234)GCT>GTT	p.A78V	TNFRSF10C_uc011kzr.1_RNA	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	78	TNFR-Cys 2.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACACCAACGCTTCCAACAAT	0.483		NaN											0	0	0	0.003755	0	29	40				
FZD3	7976	broad.mit.edu	37	8	28413267	28413267	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28413267G>C	uc003xgx.2	+	7	2044	c.1566G>C	c.(1564-1566)GAG>GAC	p.E522D	FZD3_uc010lvb.2_Missense_Mutation_p.E522D	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	522	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGTGAATGAGAGCCGACAGG	0.393		NaN											0	0	0	0.001855	0	12	45				
HMBOX1	79618	broad.mit.edu	37	8	28827975	28827975	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28827975T>C	uc003xhd.3	+	3	781	c.439T>C	c.(439-441)TAC>CAC	p.Y147H	HMBOX1_uc010lvd.2_Missense_Mutation_p.Y147H|HMBOX1_uc003xhc.3_Missense_Mutation_p.Y147H|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Y147H|HMBOX1_uc011lay.1_Missense_Mutation_p.Y147H|HMBOX1_uc003xhf.2_Missense_Mutation_p.Y135H|HMBOX1_uc003xhg.2_Missense_Mutation_p.Y135H	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	147					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TCAGAGGTCATACAGTTTTGA	0.403		NaN											0	0	0	0.001168	0	5	46				
NRG1	3084	broad.mit.edu	37	8	32463142	32463142	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:32463142T>C	uc003xiv.2	+	3	858	c.341T>C	c.(340-342)GTG>GCG	p.V114A	NRG1_uc003xip.2_Missense_Mutation_p.V329A|NRG1_uc003xir.2_Missense_Mutation_p.V114A|NRG1_uc010lvl.2_Missense_Mutation_p.V114A|NRG1_uc010lvm.2_Missense_Mutation_p.V114A|NRG1_uc010lvn.2_Missense_Mutation_p.V114A|NRG1_uc003xis.2_Missense_Mutation_p.V114A|NRG1_uc011lbf.1_Missense_Mutation_p.V114A|NRG1_uc010lvo.2_Missense_Mutation_p.V114A|NRG1_uc003xiu.2_Missense_Mutation_p.V114A|NRG1_uc003xiw.2_Missense_Mutation_p.V114A|NRG1_uc003xit.2_Missense_Mutation_p.V114A|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.V80A|NRG1_uc010lvq.2_Missense_Mutation_p.V80A|NRG1_uc003xix.2_Missense_Mutation_p.V4A	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	114	Extracellular (Potential).|Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGTGCAAAGTGATCAGCAAA	0.408		NaN											0	0	0	0.00278	0	21	35				
ADAM9	8754	broad.mit.edu	37	8	38928862	38928862	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:38928862A>G	uc003xmr.2	+	15	1715	c.1637A>G	c.(1636-1638)AAA>AGA	p.K546R	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	546	Cys-rich.|Extracellular (Potential).				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGAATTCTAAAGGTGACAGA	0.358		NaN											0	0	0	0.004007	0	14	17				
GOLGA7	51125	broad.mit.edu	37	8	41355114	41355114	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:41355114C>T	uc003xnu.2	+	3	276	c.198C>T	c.(196-198)CTC>CTT	p.L66L	GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.L66L	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	golgi autoantigen, golgin subfamily a, 7	66						Golgi membrane				breast(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGTCATATCTCGAAGGTTGTT	0.383		NaN											0	0	0	0.014323	0	21	112				
POTEA	340441	broad.mit.edu	37	8	43152200	43152200	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:43152200G>A	uc003xpz.1	+	2	380	c.337G>A	c.(337-339)GAA>AAA	p.E113K	POTEA_uc003xqa.1_Missense_Mutation_p.E113K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	113	ANK 1.									ovary(1)	1						TGGCAATTCAGAAGTAGTAAG	0.408		NaN											0	0	0	0.001855	0	14	74				
NPBWR1	2831	broad.mit.edu	37	8	53853103	53853103	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:53853103C>T	uc011ldu.1	+	1	636	c.636C>T	c.(634-636)TTC>TTT	p.F212F		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	212	Helical; Name=5; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCTGGGCTTCGCCATCCCCG	0.682		NaN											0	0	0	0.001984	0	7	10				
SDR16C5	195814	broad.mit.edu	37	8	57228775	57228775	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:57228775G>A	uc003xsy.1	-	2	770	c.132C>T	c.(130-132)CTC>CTT	p.L44L	SDR16C5_uc010lyk.1_Silent_p.L44L|SDR16C5_uc010lyl.1_Silent_p.L44L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	44	NAD or NADP (By similarity).				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CACCTGTGATGAGGACTATTT	0.468		NaN											0	0	0	0.001984	0	7	41				
CHD7	55636	broad.mit.edu	37	8	61655515	61655515	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61655515T>C	uc003xue.2	+	2	2001	c.1524T>C	c.(1522-1524)TTT>TTC	p.F508F		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	508	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCCATCTTTTCAGCAGTTGC	0.572		NaN											0	0	0	0.009096	0	3	17				
CHD7	55636	broad.mit.edu	37	8	61693742	61693742	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61693742A>G	uc003xue.2	+	3	2326	c.1849A>G	c.(1849-1851)AAA>GAA	p.K617E		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	617	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGTTTTGGTAAAGATGACTT	0.393		NaN											0	0	0	0.006214	0	9	7		Valid		
ARMC1	55156	broad.mit.edu	37	8	66517678	66517678	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:66517678G>A	uc003xvl.2	-	5	796	c.561C>T	c.(559-561)ATC>ATT	p.I187I	ARMC1_uc011leo.1_Silent_p.I85I	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	187					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AATCTGAACGGATTCGCACCA	0.333		NaN											0	0	0	0.00632	0	23	33				
PREX2	80243	broad.mit.edu	37	8	69104737	69104737	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:69104737C>T	uc003xxv.1	+	37	4608	c.4581C>T	c.(4579-4581)ATC>ATT	p.I1527I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1527					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCCACATCATCATGTGCAGCA	0.522		NaN											0	0	0	0.008361	0	20	15				
TRPA1	8989	broad.mit.edu	37	8	72977734	72977734	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:72977734A>T	uc003xza.2	-	4	679	c.504T>A	c.(502-504)GCT>GCA	p.A168A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	168	Cytoplasmic (Potential).|ANK 4.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CAATGATCACAGCTGTGTTTC	0.333		NaN											0	0	0	0.000602	0	5	32				
RDH10	157506	broad.mit.edu	37	8	74233221	74233221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:74233221G>A	uc003xzi.2	+	4	939	c.679G>A	c.(679-681)GAA>AAA	p.E227K	RDH10_uc003xzj.2_Missense_Mutation_p.E62K|uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	227					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTGAGCCATGAACTAAAGGC	0.443		NaN											0	0	0	0.013726	0	31	49				
SLC7A13	157724	broad.mit.edu	37	8	87241991	87241991	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87241991G>A	uc003ydq.1	-	1	614	c.516C>T	c.(514-516)AGC>AGT	p.S172S	SLC7A13_uc003ydr.1_Silent_p.S172S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	172	Helical; Name=5; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						GGGAAATGAAGCTAAGTATGG	0.423		NaN											0	0	0	0.013726	0	30	35				
WWP1	11059	broad.mit.edu	37	8	87442959	87442959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87442959G>T	uc003ydt.2	+	12	1646	c.1366G>T	c.(1366-1368)GGA>TGA	p.G456*	WWP1_uc010mai.2_Nonsense_Mutation_p.G232*	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	456	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						TGACCCTTATGGACCTTTGCC	0.294		NaN											1	0	4.3838e-07	0.001855	4.59712e-07	11	50				
RBM12B	389677	broad.mit.edu	37	8	94747139	94747139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:94747139C>G	uc003yfz.2	-	3	1693	c.1500G>C	c.(1498-1500)CAG>CAC	p.Q500H		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	500							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCACGTGACTGTGAGCGAG	0.408		NaN											0	0	0	0.012319	0	23	88				
RGS22	26166	broad.mit.edu	37	8	101083755	101083755	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:101083755A>G	uc003yjb.1	-	6	631	c.436T>C	c.(436-438)TTG>CTG	p.L146L	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Silent_p.L146L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	146					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGAGACCAATTTGGCTAAC	0.368		NaN											0	0	0	0.014323	0	19	24				
CSMD3	114788	broad.mit.edu	37	8	113308174	113308174	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:113308174T>C	uc003ynu.2	-	54	8661	c.8502A>G	c.(8500-8502)GGA>GGG	p.G2834G	CSMD3_uc003yns.2_Silent_p.G2036G|CSMD3_uc003ynt.2_Silent_p.G2794G|CSMD3_uc011lhx.1_Silent_p.G2665G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2834	Extracellular (Potential).|Sushi 18.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGTCTCTATATCCATAATTTT	0.363		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.010729	0	9	45				
TRPS1	7227	broad.mit.edu	37	8	116616147	116616147	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:116616147T>A	uc003ynz.2	-	3	2469	c.2010A>T	c.(2008-2010)AAA>AAT	p.K670N	TRPS1_uc011lhy.1_Missense_Mutation_p.K674N|TRPS1_uc003yny.2_Missense_Mutation_p.K683N|TRPS1_uc010mcy.2_Missense_Mutation_p.K670N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	670	Mediates interaction with GLI3.|C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAATCACATTTGGTACATG	0.443		NaN							Langer-Giedion_syndrome				0	0	0	0.008361	0	27	27				
FER1L6	654463	broad.mit.edu	37	8	124975540	124975540	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:124975540A>C	uc003yqw.2	+	3	305	c.99A>C	c.(97-99)GCA>GCC	p.A33A		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	33	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACACTGAAGCACTGCAGGAGG	0.493		NaN											0	0	0	0.008871	0	19	99				
TRMT12	55039	broad.mit.edu	37	8	125463982	125463982	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:125463982G>T	uc003yra.3	+	1	935	c.814G>T	c.(814-816)GTT>TTT	p.V272F		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	272					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATGCTGTAGTTGCTCTGAG	0.438		NaN											1	0	8.28177e-16	0.007413	8.92361e-16	19	130				
FAM84B	157638	broad.mit.edu	37	8	127569332	127569332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:127569332C>T	uc003yrz.1	-	2	587	c.303G>A	c.(301-303)TCG>TCA	p.S101S		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TCAGCGCCGCCGAGCCCGGCG	0.657		NaN											0	0	0	0.000602	0	5	35				
PHF20L1	51105	broad.mit.edu	37	8	133816268	133816268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:133816268G>A	uc003ytt.2	+	7	1037	c.712G>A	c.(712-714)GAA>AAA	p.E238K	PHF20L1_uc003ytr.2_Missense_Mutation_p.E212K|PHF20L1_uc010mdv.2_Missense_Mutation_p.E212K|PHF20L1_uc003yts.2_Missense_Mutation_p.E238K|PHF20L1_uc011lja.1_Missense_Mutation_p.E212K|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.E77K	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	238							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACATCTAGTGAAACATTTGG	0.368		NaN											0	0	0	0.009096	0	4	23				
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:142175310C>G	uc003yvy.2	+	11	1513	c.1235C>G	c.(1234-1236)TCT>TGT	p.S412C	DENND3_uc010mep.2_Missense_Mutation_p.S373C|DENND3_uc003yvz.1_Missense_Mutation_p.S96C	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412	dDENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557		NaN											0	0	0	0.01441	0	51	71				
GSDMD	79792	broad.mit.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:144641548G>A	uc010mfe.2	+	5	746	c.43G>A	c.(43-45)GAG>AAG	p.E15K	uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.E63K|GSDMD_uc003yyi.2_Missense_Mutation_p.E15K|GSDMD_uc003yyg.2_Missense_Mutation_p.E15K|GSDMD_uc003yyh.2_Missense_Mutation_p.E15K	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	15											0						AGTGGTCCAGGAGCTGGACCA	0.632		NaN											0	0	0	0.012319	0	22	36				
FBXL6	26233	broad.mit.edu	37	8	145580113	145580113	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145580113G>A	uc003zcb.2	-	7	1097	c.1072C>T	c.(1072-1074)CTA>TTA	p.L358L	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Silent_p.L85L|FBXL6_uc003zca.2_Silent_p.L352L|FBXL6_uc010mfx.2_Silent_p.L119L|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	358	LRR 6.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCCTCTAGGCTAGGGAAG	0.642		NaN											0	0	0	0.00245	0	14	66				
GPR172A	79581	broad.mit.edu	37	8	145583820	145583820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145583820C>T	uc003zcc.1	+	3	825	c.668C>T	c.(667-669)TCT>TTT	p.S223F	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.S223F|GPR172A_uc003zce.1_Missense_Mutation_p.S223F|GPR172A_uc010mfy.1_Missense_Mutation_p.S223F|GPR172A_uc003zcf.1_Missense_Mutation_p.S223F|GPR172A_uc011llc.1_Missense_Mutation_p.S135F	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	223						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACCACCATCTGTACCCACA	0.612		NaN											0	0	0	0.00874	0	40	39				
NFKBIL2	4796	broad.mit.edu	37	8	145659460	145659460	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145659460G>A	uc011llg.1	-	21	3303	c.3288C>T	c.(3286-3288)ACC>ACT	p.T1096T	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1096					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTGGGCATGGTGCCCAGGG	0.687		NaN											0	0	0	0.013726	0	30	21				
KIFC2	90990	broad.mit.edu	37	8	145698738	145698738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145698738C>T	uc003zcz.2	+	17	2487	c.2422C>T	c.(2422-2424)CGG>TGG	p.R808W	KIFC2_uc003zda.2_Missense_Mutation_p.R196W	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	808	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCGGGCTCGGCTCTCGCG	0.701		NaN											0	0	0	0.000602	0	5	12				
DMRT2	10655	broad.mit.edu	37	9	1057223	1057223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:1057223G>C	uc003zha.2	+	4	1836	c.1636G>C	c.(1636-1638)GAG>CAG	p.E546Q	DMRT2_uc003zgx.3_Missense_Mutation_p.E313Q|DMRT2_uc010mgz.2_Missense_Mutation_p.E313Q|DMRT2_uc003zgy.3_Missense_Mutation_p.E390Q|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.E546Q	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	546					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTTTCTGTTGAGTCTATTCT	0.393		NaN											0	0	0	0.00333	0	22	19				
GLIS3	169792	broad.mit.edu	37	9	3828335	3828335	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:3828335G>A	uc003zhw.1	-	10	2459	c.2265C>T	c.(2263-2265)TTC>TTT	p.F755F	GLIS3_uc003zhx.1_Silent_p.F910F|GLIS3_uc010mhf.1_Silent_p.F304F|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	755					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGATCTGCAAGAAGGTAGCAT	0.542		NaN											0	0	0	0.006214	0	10	10				
RLN2	6019	broad.mit.edu	37	9	5304391	5304391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:5304391G>A	uc003zja.1	-	1	190	c.190C>T	c.(190-192)CAG>TAG	p.Q64*	RLN2_uc003ziz.1_Nonsense_Mutation_p.Q64*	NM_134441	NP_604390	P04090	REL2_HUMAN	relaxin 2 isoform 1 preproprotein	64					female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGGTGTCTGAGGAGCATCT	0.597		NaN											0	0	0	0.001168	0	6	7				
PSIP1	11168	broad.mit.edu	37	9	15469043	15469043	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:15469043C>A	uc003zlv.3	-	13	1448	c.1118G>T	c.(1117-1119)TGC>TTC	p.C373F	PSIP1_uc003zlw.3_Missense_Mutation_p.C373F	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	373	Potential.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		GGCCTCAATGCATCTGTTCAC	0.343		NaN											1	0	1.33834e-09	0.007413	1.419e-09	18	11				
ARID3C	138715	broad.mit.edu	37	9	34623620	34623620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:34623620C>T	uc011lon.1	-	4	667	c.667G>A	c.(667-669)GAG>AAG	p.E223K		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGACGGCCCTCGCGCCGATTG	0.701		NaN											0	0	0	0.006214	0	10	8				
C9orf79	286234	broad.mit.edu	37	9	90501167	90501167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:90501167C>T	uc004app.3	+	4	1800	c.1765C>T	c.(1765-1767)CAG>TAG	p.Q589*	C9orf79_uc004apo.1_Nonsense_Mutation_p.Q401*	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	589						integral to membrane				ovary(3)	3						CAAAAAGTCTCAGGCTGTTCT	0.587		NaN											0	0	0	0.01441	0	54	62				
C9orf3	84909	broad.mit.edu	37	9	97844946	97844946	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:97844946G>A	uc004ava.2	+	15	2544	c.2409G>A	c.(2407-2409)AAG>AAA	p.K803K	C9orf3_uc004auy.2_Silent_p.K704K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Silent_p.K165K|C9orf3_uc011luk.1_Silent_p.K144K|C9orf3_uc004avd.2_Silent_p.K165K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	803					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCGGACCAAGGAGCAGATGG	0.547		NaN											0	0	0	0.013726	0	32	26				
TSTD2	158427	broad.mit.edu	37	9	100388271	100388271	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:100388271G>T	uc004axn.2	-	3	662	c.174C>A	c.(172-174)GCC>GCA	p.A58A	TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	58										ovary(2)	2						TGACAAAAAGGGCAAAGGCCT	0.353		NaN											1	0	5.9392e-07	0.001168	6.22064e-07	6	6				
SVEP1	79987	broad.mit.edu	37	9	113205828	113205828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:113205828G>T	uc010mtz.2	-	27	4973	c.4636C>A	c.(4636-4638)CCT>ACT	p.P1546T	SVEP1_uc010mua.1_Missense_Mutation_p.P1546T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1546	Pentaxin.			P -> PGMF (in Ref. 1; CAF04067).	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AACATACCAGGTATGGGCAAA	0.418		NaN											1	0	0.000157383	0.00308	0.000163846	7	6				
ZFP37	7539	broad.mit.edu	37	9	115805712	115805712	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:115805712C>A	uc004bgm.1	-	4	1214	c.1186G>T	c.(1186-1188)GTG>TTG	p.V396L	ZFP37_uc011lwz.1_Missense_Mutation_p.V411L|ZFP37_uc011lxa.1_Missense_Mutation_p.V397L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	396	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TGAGATCTCACATGTTGAATA	0.413		NaN											1	0	5.7616e-29	0.01441	6.25504e-29	47	34				
PRPF4	9128	broad.mit.edu	37	9	116050456	116050456	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:116050456G>A	uc004bgx.2	+	10	987	c.937G>A	c.(937-939)GAT>AAT	p.D313N	PRPF4_uc004bgy.2_Missense_Mutation_p.D312N	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	313	WD 2.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						CCTTTCCAGTGATGAACCAGT	0.458		NaN											0	0	0	0.003163	0	13	18				
OR1B1	347169	broad.mit.edu	37	9	125391656	125391656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:125391656C>T	uc011lyz.1	-	1	159	c.159G>A	c.(157-159)TGG>TGA	p.W53*		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTCTGGAGTCCCAGGAGATGA	0.522		NaN											0	0	0	0.006122	0	17	12				
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:130027210G>A	uc011mae.1	+	1	455	c.54G>A	c.(52-54)CTG>CTA	p.L18L	GARNL3_uc011mad.1_Intron	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTATAATACTGATGAAGCATT	0.453		NaN											0	0	0	0.00278	0	23	29				
TPRN	286262	broad.mit.edu	37	9	140093630	140093630	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140093630G>A	uc004clt.2	-	1	1351	c.1351C>T	c.(1351-1353)CTG>TTG	p.L451L	TPRN_uc004clu.2_Silent_p.L451L	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	512					sensory perception of sound	stereocilium					0						TGGTCCTGCAGAGTCCCTGGC	0.672		NaN											0	0	0	0.01441	0	48	37				
FAM166A	401565	broad.mit.edu	37	9	140139108	140139108	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140139108A>G	uc004cmi.1	-	5	788	c.733T>C	c.(733-735)TTC>CTC	p.F245L		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	245										ovary(1)	1						CTCTTGTCGAATTCGTCCATG	0.577		NaN											0	0	0	0.005443	0	24	18				
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:1505571G>T	uc004cpt.2	-	4	917	c.821C>A	c.(820-822)GCG>GAG	p.A274E	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	274	Helical; Name=6; (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GTTGGACCACGCACCCTTGAA	0.607		NaN											1	0	1.19662e-71	0.01441	1.30239e-71	154	78				
ARSH	347527	broad.mit.edu	37	X	2945385	2945385	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:2945385T>C	uc011mhj.1	+	7	1068	c.1068T>C	c.(1066-1068)GGT>GGC	p.G356G		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	356						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGAAGGAGGTATCCGTGTGC	0.453		NaN											0	0	0	0.00623	0	36	20				
MID1	4281	broad.mit.edu	37	X	10535150	10535150	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:10535150C>T	uc004cte.3	-	2	629	c.438G>A	c.(436-438)CTG>CTA	p.L146L	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.L146L|MID1_uc004cth.3_Silent_p.L146L|MID1_uc004ctk.3_Silent_p.L146L|MID1_uc004cti.3_Silent_p.L146L|MID1_uc004ctj.3_Silent_p.L146L|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.L146L|MID1_uc004ctn.1_Silent_p.L146L|MID1_uc004cto.1_Silent_p.L146L|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.L146L|MID1_uc004ctu.2_Silent_p.L146L|MID1_uc004ctv.2_Silent_p.L146L|MID1_uc004ctw.2_Silent_p.L146L|MID1_uc010ndy.1_Silent_p.L146L|uc010ndz.1_5'Flank|MID1_uc004cty.2_Silent_p.L146L|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.L146L|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Silent_p.L146L|MID1_uc004cud.1_Silent_p.L146L|MID1_uc004cue.1_Silent_p.L146L|MID1_uc004cuf.1_Silent_p.L146L|MID1_uc004cug.1_Silent_p.L146L	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	146	B box-type 1.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						GAGTGGCTTTCAGGCACTCGT	0.552		NaN											0	0	0	0.004289	0	38	24				
ARHGAP6	395	broad.mit.edu	37	X	11204418	11204418	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11204418T>C	uc004cup.1	-	5	2084	c.1211A>G	c.(1210-1212)AAT>AGT	p.N404S	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.N404S|ARHGAP6_uc004cum.1_Missense_Mutation_p.N201S|ARHGAP6_uc004cun.1_Missense_Mutation_p.N224S|ARHGAP6_uc010neb.1_Missense_Mutation_p.N226S|ARHGAP6_uc011mif.1_Missense_Mutation_p.N201S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	404	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						GTAAATAGGATTCAGACTGAG	0.428		NaN											0	0	0	0.01441	0	110	84				
AMELX	265	broad.mit.edu	37	X	11316858	11316858	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11316858T>C	uc004cut.2	+	5	403	c.335T>C	c.(334-336)ATC>ACC	p.I112T	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.I126T|AMELX_uc004cuu.2_Missense_Mutation_p.I96T	NM_001142	NP_001133	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 1 precursor	112					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel				0						ATGACTCCAATCCAACACCAC	0.642		NaN											0	0	0	0.01441	0	65	39				
RBBP7	5931	broad.mit.edu	37	X	16864054	16864054	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:16864054T>A	uc004cxt.2	-	11	1464	c.1106A>T	c.(1105-1107)CAT>CTT	p.H369L	RBBP7_uc004cxs.1_Missense_Mutation_p.H413L|RBBP7_uc004cxu.2_Missense_Mutation_p.H360L	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	369	WD 6.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					GTGTCCTCCATGAATAAACTG	0.363		NaN											0	0	0	0.007291	0	31	19				
DMD	1756	broad.mit.edu	37	X	31947824	31947824	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:31947824G>C	uc004dda.1	-	47	7045	c.6801C>G	c.(6799-6801)CTC>CTG	p.L2267L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L923L|DMD_uc004dcx.2_Silent_p.L926L|DMD_uc004dcz.2_Silent_p.L2144L|DMD_uc004dcy.1_Silent_p.L2263L|DMD_uc004ddb.1_Silent_p.L2259L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2267	Spectrin 16.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAATTGTTTGAGAATTCCCT	0.423		NaN											0	0	0	0.012319	0	21	31				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.007291	0	29	24		Valid		
CHST7	56548	broad.mit.edu	37	X	46434113	46434113	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:46434113C>T	uc004dgt.2	+	1	922	c.747C>T	c.(745-747)ATC>ATT	p.I249I		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	249	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						TGGTGGTCATCAAGGACGTGC	0.682		NaN											0	0	0	0.010729	0	12	14				
OTUD5	55593	broad.mit.edu	37	X	48780496	48780496	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48780496C>T	uc004dlu.2	-	9	1732	c.1671G>A	c.(1669-1671)ATG>ATA	p.M557I	OTUD5_uc004dlt.3_Missense_Mutation_p.M552I|OTUD5_uc004dlv.2_Missense_Mutation_p.M552I|OTUD5_uc011mmp.1_Missense_Mutation_p.M335I	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	557					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1						TGTTTTTCTTCATACTGTCTA	0.532		NaN											0	0	0	0.003271	0	33	26				
GPKOW	27238	broad.mit.edu	37	X	48973498	48973498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48973498C>T	uc004dmr.2	-	6	806	c.799G>A	c.(799-801)GAC>AAC	p.D267N		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	267	KOW 1.					nucleus	nucleic acid binding			ovary(2)	2						CGAACATTGTCAGGATCAAGG	0.547		NaN											0	0	0	0.004878	0	36	23				
IQSEC2	23096	broad.mit.edu	37	X	53268459	53268459	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:53268459C>A	uc004dsd.2	-	11	3234	c.3033G>T	c.(3031-3033)CAG>CAT	p.Q1011H	IQSEC2_uc004dsc.2_Missense_Mutation_p.Q806H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1001	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCTTCTTCTTCTGGAAAATTT	0.498		NaN									OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.000308642	0.003163	0.000319004	14	27				
PFKFB1	5207	broad.mit.edu	37	X	54959877	54959877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:54959877C>T	uc004dty.1	-	14	1446	c.1375G>A	c.(1375-1377)GAA>AAA	p.E459K	PFKFB1_uc010nkd.1_Missense_Mutation_p.E267K|PFKFB1_uc011mol.1_Missense_Mutation_p.E394K	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	459	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TCCTCAGGTTCCCGGGTGATG	0.552		NaN											0	0	0	0.004656	0	27	16				
APEX2	27301	broad.mit.edu	37	X	55028739	55028739	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:55028739G>A	uc004dtz.2	+	3	373	c.297G>A	c.(295-297)CTG>CTA	p.L99L	APEX2_uc011mom.1_Intron	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	99					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						AAGAAGGCCTGAGTGGCCTGT	0.552		NaN						Other_BER_factors					0	0	0	0.01441	0	46	20				
UBQLN2	29978	broad.mit.edu	37	X	56591246	56591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:56591246G>A	uc004dus.2	+	1	1175	c.940G>A	c.(940-942)GAT>AAT	p.D314N	UBQLN2_uc011moq.1_Missense_Mutation_p.D314N	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	314						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						AGAAAATCGCGATCCACTACC	0.567		NaN											0	0	0	0.005443	0	27	20				
KIAA2022	340533	broad.mit.edu	37	X	73963126	73963126	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:73963126C>T	uc004eby.2	-	3	1883	c.1266G>A	c.(1264-1266)AAG>AAA	p.K422K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	422					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GCTTTGGATTCTTAAGTTGCT	0.428		NaN											0	0	0	0.014323	0	21	39				
MAGEE2	139599	broad.mit.edu	37	X	75003930	75003930	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:75003930G>A	uc004ecj.1	-	1	1142	c.957C>T	c.(955-957)GTC>GTT	p.V319V		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	319	MAGE 2.									ovary(1)|skin(1)	2						TAGCCAACTGGACCAAATCAT	0.453		NaN											0	0	0	0.012319	0	18	35				
TNMD	64102	broad.mit.edu	37	X	99854576	99854576	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99854576C>T	uc004efy.3	+	7	1042	c.816C>T	c.(814-816)GGC>GGT	p.G272G	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	272	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						GCCGTCGAGGCAACCGCTATT	0.478		NaN											0	0	0	0.001984	0	5	16				
TSPAN6	7105	broad.mit.edu	37	X	99888412	99888412	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99888412A>T	uc004ega.1	-	5	678	c.575T>A	c.(574-576)GTA>GAA	p.V192E	TSPAN6_uc010nna.1_Missense_Mutation_p.V98E	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	192	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						TTCATTGTTTACTTTGTCTGC	0.294		NaN											0	0	0	0.004007	0	14	32				
MORC4	79710	broad.mit.edu	37	X	106219839	106219839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:106219839C>T	uc004emu.3	-	9	1375	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.D378N|MORC4_uc004emw.3_Missense_Mutation_p.D126N	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	378							ATP binding|zinc ion binding			ovary(1)	1						TACTCAAAGTCTTGTTTGTTG	0.408		NaN											0	0	0	0.003163	0	13	43				
MID2	11043	broad.mit.edu	37	X	107084505	107084505	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:107084505A>G	uc004enl.2	+	2	1183	c.610A>G	c.(610-612)AAC>GAC	p.N204D	MID2_uc004enk.2_Missense_Mutation_p.N204D	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	204	B box-type 2.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TGAGAAAGTGAACATGTACTG	0.507		NaN											0	0	0	0.00333	0	25	39				
WDR44	54521	broad.mit.edu	37	X	117543582	117543582	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117543582A>G	uc004eqn.2	+	11	2089	c.1664A>G	c.(1663-1665)AAT>AGT	p.N555S	WDR44_uc004eqo.2_Missense_Mutation_p.N555S|WDR44_uc011mtr.1_Missense_Mutation_p.N530S|WDR44_uc010nqi.2_Missense_Mutation_p.N265S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	555						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ATGAAATACAATACTGAAGGT	0.348		NaN											0	0	0	0.007413	0	19	41				
ZCCHC12	170261	broad.mit.edu	37	X	117960326	117960326	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117960326G>A	uc004equ.2	+	4	1592	c.1119G>A	c.(1117-1119)TTG>TTA	p.L373L		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						TTGAGAATTTGATCATCACTC	0.502		NaN											0	0	0	0.00499	0	16	26				
SASH3	54440	broad.mit.edu	37	X	128922525	128922525	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:128922525T>C	uc011mun.1	+	3	454	c.272T>C	c.(271-273)ATG>ACG	p.M91T	SASH3_uc004euu.2_Missense_Mutation_p.M91T|SASH3_uc011muo.1_Missense_Mutation_p.M8T	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	91										ovary(2)|pancreas(1)	3						ATGGGCAAGATGATGGTGAAG	0.572		NaN											0	0	0	0.003163	0	11	23				
MAGEA11	4110	broad.mit.edu	37	X	148797576	148797576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:148797576G>A	uc004fdq.2	+	5	532	c.430G>A	c.(430-432)GAG>AAG	p.E144K	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.E115K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	144						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCAAGCTGAGGAGCAGGA	0.577		NaN											0	0	0	0.008291	0	10	28				
NOL9	79707	broad.mit.edu	37	1	6585956	6585956	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:6585956C>T	uc001ans.2	-	12	2086	c.2067G>A	c.(2065-2067)GAG>GAA	p.E689E	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	689					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGGTTTCTCTTTATGTG	0.413		NaN											0	0	0	0.006214	0	8	81				
DMRTB1	63948	broad.mit.edu	37	1	53927213	53927213	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:53927213C>A	uc001cvq.1	+	2	700	c.645C>A	c.(643-645)CAC>CAA	p.H215Q		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	215	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCAGCATGCACCCCTACTGCC	0.647		NaN											1	0	1.15088e-07	0.028581	1.29369e-07	16	146				
ACOT11	26027	broad.mit.edu	37	1	55060253	55060253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:55060253C>T	uc001cxm.1	+	6	578	c.496C>T	c.(496-498)CGG>TGG	p.R166W	ACOT11_uc001cxj.1_Missense_Mutation_p.R44W|ACOT11_uc001cxk.2_Missense_Mutation_p.R132W|ACOT11_uc001cxl.1_Missense_Mutation_p.R166W	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	166					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GATCACGCCGCGGACAGAAGA	0.627		NaN											0	0	0	0.014758	0	4	44				
TRIM46	80128	broad.mit.edu	37	1	155154564	155154564	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:155154564G>A	uc001fhs.1	+	9	1908	c.1825G>A	c.(1825-1827)GTC>ATC	p.V609I	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V483I|TRIM46_uc001fhu.1_Missense_Mutation_p.V586I|TRIM46_uc009wpg.1_Missense_Mutation_p.V596I|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	609	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGTGGGCGTCGGGCTGGA	0.647		NaN											0	0	0	0.020292	0	14	37				
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:161200969C>T	uc001fzx.2	-	7	964	c.761G>A	c.(760-762)CGA>CAA	p.R254Q	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzg.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzh.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzi.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzj.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Missense_Mutation_p.R175Q|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzp.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzo.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzy.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.R225Q|NR1I3_uc010pkm.1_Missense_Mutation_p.R221Q|NR1I3_uc010pkn.1_3'UTR	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532		NaN											0	0	0	0.006122	0	17	29				
BAT2L2	23215	broad.mit.edu	37	1	171484973	171484973	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:171484973A>G	uc010pmg.1	+	5	761	c.495A>G	c.(493-495)GGA>GGG	p.G165G	BAT2L2_uc001ghq.1_Silent_p.G162G|BAT2L2_uc001ghr.1_Silent_p.G167G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	165							protein C-terminus binding				0						ACAACTATGGACCTGGACCCA	0.398		NaN											0	0	0	0.006214	0	8	42				
HMCN1	83872	broad.mit.edu	37	1	185953314	185953314	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:185953314C>T	uc001grq.1	+	19	3033	c.2804C>T	c.(2803-2805)CCT>CTT	p.P935L	HMCN1_uc001grr.1_Missense_Mutation_p.P276L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	935	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTCCAAAATCCTTACATCACT	0.383		NaN											0	0	0	0.006214	0	10	49				
GPR37L1	9283	broad.mit.edu	37	1	202097242	202097242	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:202097242T>G	uc001gxj.2	+	2	1067	c.1004T>G	c.(1003-1005)GTG>GGG	p.V335G		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	335	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						ACATGGCGGGTGCGAGGCCCT	0.617		NaN											0	0	0	0.016522	0	7	70				
KCNH1	3756	broad.mit.edu	37	1	210856624	210856624	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:210856624C>T	uc001hib.2	-	11	3139	c.2969G>A	c.(2968-2970)TGA>TAA	p.*990*	KCNH1_uc001hic.2_Silent_p.*963*	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	990					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATAGACCTCTCAGCTGGCTCC	0.443		NaN											0	0	0	0.010729	0	10	177				
FAM71A	149647	broad.mit.edu	37	1	212798487	212798487	+	Nonsense_Mutation	SNP	C	C	T	rs141642686	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:212798487C>T	uc001hjk.2	+	1	672	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	90										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCTACTGGCACGACCGGCCAC	0.567		NaN											0	0	0	0.00308	0	8	72				
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:222713516C>T	uc001hnh.1	-	4	1344	c.1286G>A	c.(1285-1287)GGG>GAG	p.G429E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	429					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577		NaN											0	0	0	0.02938	0	7	94				
RYR2	6262	broad.mit.edu	37	1	237787085	237787085	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:237787085T>G	uc001hyl.1	+	39	6057	c.5937T>G	c.(5935-5937)TTT>TTG	p.F1979L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1979	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTCAATTTTAAGGATGACA	0.348		NaN											0	0	0	0.004672	0	3	26				
ADARB2	105	broad.mit.edu	37	10	1230959	1230959	+	Missense_Mutation	SNP	G	G	A	rs141253548	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:1230959G>A	uc009xhq.2	-	9	2259	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C	ADARB2_uc009xhp.2_Missense_Mutation_p.R13C|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.R138C	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	629	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCCGGCTGGCGCGCCTCGGCG	0.672		NaN											0	0	0	0.008291	0	10	80				
DOCK1	1793	broad.mit.edu	37	10	128798484	128798484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:128798484C>G	uc001ljt.2	+	10	962	c.898C>G	c.(898-900)CAG>GAG	p.Q300E	DOCK1_uc010qun.1_Missense_Mutation_p.Q300E	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	300					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTTGTCTGTCAGATTGTTCG	0.448		NaN											0	0	0	0.014758	0	4	39				
SAA2	6289	broad.mit.edu	37	11	18267001	18267001	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:18267001G>C	uc001mnz.3	-	4	329	c.292C>G	c.(292-294)CAG>GAG	p.Q98E	SAA2_uc009yhj.2_Intron	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	98				ADQAAN -> SEATVK (in Ref. 11; AA sequence).	acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TTGGCAGCCTGATCGGCCAGC	0.552		NaN											0	0	0	0.006214	0	9	111				
FAT3	120114	broad.mit.edu	37	11	92495148	92495148	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92495148C>T	uc001pdj.3	+	4	3813	c.3796C>T	c.(3796-3798)CGT>TGT	p.R1266C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1266	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCAGAACGTGACCGAAA	0.473		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.016723	0	12	117				
FAT3	120114	broad.mit.edu	37	11	92532073	92532073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92532073C>T	uc001pdj.3	+	9	5911	c.5894C>T	c.(5893-5895)ACC>ATC	p.T1965I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1965	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTACAGTACCTCCATGGTC	0.418		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.013726	0	35	56				
CNTN5	53942	broad.mit.edu	37	11	100211904	100211904	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:100211904A>G	uc001pga.2	+	23	3336	c.2997A>G	c.(2995-2997)CCA>CCG	p.P999P	CNTN5_uc001pgb.2_Silent_p.P925P|CNTN5_uc010ruk.1_Silent_p.P270P	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	999	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCGTCATACCATTAGCCAACG	0.433		NaN											0	0	0	0.024334	0	25	94				
PVRL1	5818	broad.mit.edu	37	11	119547811	119547811	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:119547811C>T	uc001pwv.2	-	4	1023	c.851_splice	c.e4+1	p.T284_splice	PVRL1_uc001pwu.1_Splice_Site_p.T284_splice|PVRL1_uc001pww.2_Splice_Site_p.T284_splice	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1						adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCAGCACTTACGTGGTCCAGT	0.577		NaN											0	0	0	0.020292	0	13	63				
SLC2A14	144195	broad.mit.edu	37	12	7970478	7970478	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:7970478G>A	uc001qtk.2	-	15	2086	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SLC2A14_uc001qtl.2_Silent_p.C408C|SLC2A14_uc001qtm.2_Silent_p.C408C|SLC2A14_uc010sgg.1_Silent_p.C322C|SLC2A14_uc001qtn.2_Silent_p.C431C|SLC2A14_uc001qto.2_Silent_p.C66C|SLC2A14_uc010sgh.1_Silent_p.C446C	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	431	Helical; Name=11; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TCCAGTTGGAGCAGCCGGCCA	0.483		NaN											0	0	0	0.0333	0	14	146				
ADCY6	112	broad.mit.edu	37	12	49176704	49176704	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:49176704C>T	uc001rsh.3	-	1	1174	c.514G>A	c.(514-516)GCA>ACA	p.A172T	ADCY6_uc001rsj.3_Missense_Mutation_p.A172T|ADCY6_uc001rsi.3_Missense_Mutation_p.A172T	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	172					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CGGGCGGGTGCGGCGTGGAAA	0.647		NaN											0	0	0	0.00308	0	7	100				
DIP2B	57609	broad.mit.edu	37	12	51034594	51034594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:51034594G>A	uc001rwv.2	+	3	416	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	DIP2B_uc001rwu.2_Missense_Mutation_p.R87Q|DIP2B_uc009zls.1_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	87						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AAGTACCACCGAACTCGATCT	0.468		NaN											0	0	0	0.028581	0	15	28				
PLXNC1	10154	broad.mit.edu	37	12	94648979	94648979	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:94648979G>A	uc001tdc.2	+	17	3243	c.2994G>A	c.(2992-2994)GAG>GAA	p.E998E	PLXNC1_uc010sut.1_Silent_p.E45E	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	998	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GCTTTGCTGAGCTGCAGATGG	0.393		NaN											0	0	0	0.006214	0	8	30				
NCOR2	9612	broad.mit.edu	37	12	124824693	124824693	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:124824693G>A	uc010tay.1	-	39	5732	c.5576C>T	c.(5575-5577)GCC>GTC	p.A1859V	NCOR2_uc010taz.1_Missense_Mutation_p.A1843V|NCOR2_uc010tax.1_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1860					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGTGGGAGGCGGGgcggct	0.493		NaN											0	0	0	0.016522	0	25	45		Valid		
TMEM132D	121256	broad.mit.edu	37	12	130185155	130185155	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:130185155C>T	uc009zyl.1	-	2	496	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	56	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAGACGTCCGCGTTGTTGA	0.562		NaN											0	0	0	0.006214	0	10	36				
FNDC3A	22862	broad.mit.edu	37	13	49777357	49777357	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:49777357G>T	uc001vcm.2	+	25	3524	c.3219G>T	c.(3217-3219)ATG>ATT	p.M1073I	FNDC3A_uc001vcn.2_Missense_Mutation_p.M1073I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.M1017I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1073	Fibronectin type-III 9.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAGCCAATGAAAGGTGATC	0.328		NaN											1	0	9.16793e-09	0.0333	1.03813e-08	15	27				
GPC5	2262	broad.mit.edu	37	13	92345539	92345539	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:92345539C>A	uc010tif.1	+	3	790	c.424C>A	c.(424-426)CAG>AAG	p.Q142K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	142						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCTTCGGTTCAGGAGTTCTT	0.408		NaN											1	0	2.27111e-07	0.013537	2.53443e-07	11	80				
TUBGCP3	10426	broad.mit.edu	37	13	113181716	113181716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:113181716G>A	uc001vse.1	-	12	1605	c.1418C>T	c.(1417-1419)TCG>TTG	p.S473L	TUBGCP3_uc010tjq.1_Missense_Mutation_p.S463L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.S473L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	473					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGTCATAAACGAAGGAATCAT	0.368		NaN											0	0	0	0.021553	0	6	78				
AKAP6	9472	broad.mit.edu	37	14	33015022	33015022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:33015022C>T	uc001wrq.2	+	4	1333	c.1163C>T	c.(1162-1164)ACA>ATA	p.T388I	AKAP6_uc010aml.2_Missense_Mutation_p.T385I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	388					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGCAGCCTACATTGCCAAAA	0.418		NaN											0	0	0	0.004482	0	9	47				
INSM2	84684	broad.mit.edu	37	14	36004658	36004658	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:36004658C>A	uc001wth.1	+	1	1411	c.1200C>A	c.(1198-1200)GGC>GGA	p.G400G		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCTCAGGGCCCCTACACGG	0.682		NaN											1	0	1.6384e-10	0.02938	1.88294e-10	7	70				
GPR65	8477	broad.mit.edu	37	14	88477734	88477734	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:88477734C>G	uc001xvv.2	+	2	1073	c.543C>G	c.(541-543)ATC>ATG	p.I181M		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	181	Helical; Name=5; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0						AATGGCAAATCAACCTCAACT	0.413		NaN											0	0	0	0.021553	0	5	92				
CHAC1	79094	broad.mit.edu	37	15	41247690	41247690	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:41247690T>C	uc001znh.2	+	3	533	c.513T>C	c.(511-513)TAT>TAC	p.Y171Y	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	171					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCACCTTCTATCCCCAAGATG	0.572		NaN											0	0	0	0.030593	0	27	215				
PLDN	26258	broad.mit.edu	37	15	45898644	45898644	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:45898644G>A	uc001zvq.2	+	5	676	c.451G>A	c.(451-453)GAG>AAG	p.E151K	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	151	Potential.				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		GTTGGAAAGGGAGCAGCAACG	0.398		NaN											0	0	0	0.004482	0	8	57				
CSNK1G1	53944	broad.mit.edu	37	15	64508801	64508801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:64508801G>A	uc002anf.2	-	5	884	c.404C>T	c.(403-405)ACA>ATA	p.T135I	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anh.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anj.2_Missense_Mutation_p.T108I	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	135	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						CAAAGTAAATGTTCGGTCACA	0.468		NaN											0	0	0	0.01892	0	21	25				
IGDCC3	9543	broad.mit.edu	37	15	65625614	65625614	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:65625614C>T	uc002aos.2	-	6	1215	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	321	Extracellular (Potential).|Ig-like C2-type 3.									ovary(3)	3						CCAGCCGGCCCTGTGCCGTTC	0.642		NaN											0	0	0	0.004482	0	8	84				
LRRC49	54839	broad.mit.edu	37	15	71302263	71302263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:71302263A>G	uc002asw.2	+	13	1772	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	LRRC49_uc002asu.2_Missense_Mutation_p.T499A|LRRC49_uc002asx.2_Missense_Mutation_p.T465A|LRRC49_uc010ukf.1_Missense_Mutation_p.T514A|LRRC49_uc002asy.2_Missense_Mutation_p.T215A|LRRC49_uc002asz.2_Missense_Mutation_p.T481A	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	509						cytoplasm|microtubule				ovary(1)	1						TGTCAATTTTACACTCTGGAA	0.363		NaN											0	0	0	0.02938	0	6	35				
RHBDF1	64285	broad.mit.edu	37	16	113739	113739	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:113739C>T	uc002cfl.3	-	7	456	c.308G>A	c.(307-309)CGC>CAC	p.R103H	RHBDF1_uc010uty.1_Missense_Mutation_p.R126H|RHBDF1_uc010utz.1_Missense_Mutation_p.R103H|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	103	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGCTCTTGCGCTGCCATTT	0.657		NaN											0	0	0	0.004482	0	7	51				
GRIN2A	2903	broad.mit.edu	37	16	9916174	9916174	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:9916174C>G	uc002czo.3	-	10	2663	c.2115G>C	c.(2113-2115)ATG>ATC	p.M705I	GRIN2A_uc010uym.1_Missense_Mutation_p.M705I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M548I|GRIN2A_uc002czr.3_Missense_Mutation_p.M705I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	705	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAAATTTGGTCATGTACTGAT	0.468		NaN											0	0	0	0.006214	0	9	74				
SNX29	92017	broad.mit.edu	37	16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:12223537G>A	uc002dby.3	+	6	418	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	SNX29_uc010uyx.1_Missense_Mutation_p.R148Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	121	Potential.				cell communication		phosphatidylinositol binding			ovary(1)	1						GCCGCGCTCCGGCAAGAGGTG	0.607		NaN											0	0	0	0.00308	0	7	20				
SRCAP	10847	broad.mit.edu	37	16	30718977	30718977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30718977C>T	uc002dze.1	+	6	962	c.577C>T	c.(577-579)CGA>TGA	p.R193*	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.R50*|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	193	HSA.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CAAGCTGCGTCGAATTGCTTC	0.572		NaN											0	0	0	0.028581	0	15	57		Valid		
SRCAP	10847	broad.mit.edu	37	16	30720939	30720939	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30720939C>T	uc002dze.1	+	7	1124	c.739C>T	c.(739-741)CTG>TTG	p.L247L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L104L|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	247					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTCGGACCTTCTGTCTCAGAG	0.547		NaN											0	0	0	0.012213	0	32	92				
RNF40	9810	broad.mit.edu	37	16	30774850	30774850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30774850C>G	uc002dzq.2	+	4	535	c.412C>G	c.(412-414)CTC>GTC	p.L138V	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L138V|RNF40_uc010cab.2_Missense_Mutation_p.L138V|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L138V|RNF40_uc010vfb.1_Intron	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	138					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TGGGACTCCTCTCCCAGAGCC	0.617		NaN											0	0	0	0.006122	0	19	46				
CKLF	51192	broad.mit.edu	37	16	66592158	66592158	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:66592158C>T	uc002eow.2	+	2	291	c.144C>T	c.(142-144)ATC>ATT	p.I48I	CKLF_uc002eox.1_Silent_p.I48I|CKLF_uc002eot.2_Silent_p.I48I|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN	chemokine-like factor isoform a	48	Helical; (Potential).|MARVEL.				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ATATTGTTATCACTGGATTTG	0.353		NaN											0	0	0	0.008291	0	10	51				
TMED6	146456	broad.mit.edu	37	16	69385672	69385672	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:69385672C>A	uc002exc.1	-	1	18	c.-15G>T	c.(-17--13)GAGGC>GATGC			NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain						transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						TTTCTGGAGCCTCCTCTGCAG	0.537		NaN											1	0	0.00448238	0.004482	0.00479366	8	32				
C16orf7	9605	broad.mit.edu	37	16	89774351	89774351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:89774351C>T	uc002fom.1	-	15	1939	c.1814G>A	c.(1813-1815)GGA>GAA	p.G605E	C16orf7_uc002fol.1_Missense_Mutation_p.G535E	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	605	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCCTCCTCTCCGATCAGGTA	0.622		NaN											0	0	0	0.024245	0	11	77				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	54	34		Valid		
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7917216G>A	uc002gjt.2	+	12	2356	c.2282G>A	c.(2281-2283)CGG>CAG	p.R761Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622		NaN											0	0	0	0.024245	0	15	148				
RAPGEFL1	51195	broad.mit.edu	37	17	38347663	38347663	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:38347663C>T	uc010cwu.1	+	9	1303	c.813C>T	c.(811-813)CAC>CAT	p.H271H	RAPGEFL1_uc010wfd.1_Silent_p.H207H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	477	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGGTCACGCACTGGGTGGCCA	0.682		NaN											0	0	0	0.020292	0	12	22				
KRTAP4-11	653240	broad.mit.edu	37	17	39274427	39274427	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:39274427G>A	uc002hvz.2	-	1	180	c.141C>T	c.(139-141)TCC>TCT	p.S47S		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	47	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		Missing (in allele KAP4.14).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCAGCAGCTGGACACACAGC	0.677		NaN											0	0	0	0.0333	0	14	194				
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:32418763C>T	uc010dmn.1	+	12	1228	c.1227C>T	c.(1225-1227)ATC>ATT	p.I409I	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	409	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						ATGTTCTCATCGGGTTGTATG	0.502		NaN											0	0	0	0.021553	0	6	83				
SMAD7	4092	broad.mit.edu	37	18	46448082	46448082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:46448082C>T	uc002ldg.2	-	4	1228	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	SMAD7_uc002ldf.2_Missense_Mutation_p.R126Q|SMAD7_uc010xde.1_Missense_Mutation_p.R99Q	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					GATTTTGCTCCGCACCTTCTG	0.557		NaN											0	0	0	0.012319	0	21	60				
CXXC1	30827	broad.mit.edu	37	18	47812525	47812525	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:47812525C>T	uc002leq.3	-	4	1059	c.326G>A	c.(325-327)CGC>CAC	p.R109H	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R109H|CXXC1_uc010doy.2_Missense_Mutation_p.R109H|CXXC1_uc002les.2_Missense_Mutation_p.R109H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	109					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCCTCTTGCGCCCTCCACC	0.642		NaN											0	0	0	0.01441	0	56	126				
DOK6	220164	broad.mit.edu	37	18	67365704	67365704	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:67365704G>A	uc002lkl.2	+	5	664	c.474G>A	c.(472-474)CAG>CAA	p.Q158Q		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	158	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCACAATGCAGATCACTCATG	0.438		NaN											0	0	0	0.006122	0	17	46				
SMARCA4	6597	broad.mit.edu	37	19	11141426	11141426	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:11141426C>T	uc002mqf.3	+	25	3687	c.3403C>T	c.(3403-3405)CGG>TGG	p.R1135W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1135W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1135W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxt.1_Missense_Mutation_p.R355W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R258W|SMARCA4_uc002mqi.1_Missense_Mutation_p.R338W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1135	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCGGAGGACCGGGGCATGCT	0.632		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.014758	0	4	27		Valid		
ANO8	57719	broad.mit.edu	37	19	17435648	17435648	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:17435648C>T	uc002ngf.2	-	17	3368	c.3209G>A	c.(3208-3210)GGC>GAC	p.G1070D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GGCCTGCCCGCCCGCCCCGTT	0.711		NaN											0	0	0	0.024245	0	15	99				
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:31770237A>G	uc002nsy.3	-	2	527	c.462T>C	c.(460-462)AGT>AGC	p.S154S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.448		NaN											0	0	0	0.00308	0	6	265				
CD22	933	broad.mit.edu	37	19	35837577	35837577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:35837577G>A	uc010edt.2	+	14	2598	c.2521G>A	c.(2521-2523)GAC>AAC	p.D841N	CD22_uc010xst.1_Missense_Mutation_p.D669N|CD22_uc010edu.2_Missense_Mutation_p.D753N|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.D664N|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	841	ITIM motif 4.|Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGAAAATGTGGACTATGTGAT	0.562		NaN											0	0	0	0.004482	0	8	13				
ZFP82	284406	broad.mit.edu	37	19	36896541	36896541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:36896541G>A	uc002ody.1	-	4	405	c.170C>T	c.(169-171)TCA>TTA	p.S57L		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTGCTCCAATGAGGAAATCAC	0.383		NaN											0	0	0	0.01441	0	62	101				
ZNF529	57711	broad.mit.edu	37	19	37037947	37037947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:37037947G>A	uc002oeh.3	-	5	1715	c.1513C>T	c.(1513-1515)CCC>TCC	p.P505S	ZNF529_uc010xth.1_Missense_Mutation_p.P505S|ZNF529_uc010xti.1_Missense_Mutation_p.P487S|ZNF529_uc002oeg.3_Missense_Mutation_p.P400S	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CATTCATAGGGTTTTTCTCCA	0.403		NaN											0	0	0	0.009096	0	4	19				
SIGLEC12	89858	broad.mit.edu	37	19	52002805	52002805	+	Missense_Mutation	SNP	G	G	A	rs149053840		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:52002805G>A	uc002pwx.1	-	3	1030	c.974C>T	c.(973-975)TCG>TTG	p.S325L	SIGLEC12_uc002pww.1_Missense_Mutation_p.S207L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S52L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	325	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGAGCATCGAGGAGCGAGT	0.667		NaN											0	0	0	0.010729	0	12	89				
ZNF471	57573	broad.mit.edu	37	19	57035702	57035702	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:57035702C>T	uc002qnh.2	+	5	399	c.266C>T	c.(265-267)TCT>TTT	p.S89F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GATTGGGAATCTATATATGTG	0.333		NaN											0	0	0	0.024245	0	13	72				
ZNF586	54807	broad.mit.edu	37	19	58290574	58290574	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290574G>C	uc002qqd.2	+	3	805	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.M164I|ZNF586_uc010euh.2_Missense_Mutation_p.E164Q|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	207	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCGTTATGAATGCAATGA	0.428		NaN											0	0	0	0.02938	0	7	150				
ZNF586	54807	broad.mit.edu	37	19	58290633	58290633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290633G>C	uc002qqd.2	+	3	864	c.678G>C	c.(676-678)AGG>AGC	p.R226S	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.G184A|ZNF586_uc010euh.2_Missense_Mutation_p.R183S|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	226	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACAGGAGGATTCACACTG	0.418		NaN											0	0	0	0.010729	0	10	157				
PROKR1	10887	broad.mit.edu	37	2	68882436	68882436	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:68882436A>C	uc010yqj.1	+	2	910	c.910A>C	c.(910-912)ACC>CCC	p.T304P	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	304	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTACGGCTTCACCATCGTGCG	0.587		NaN											0	0	0	0.010729	0	11	93				
FBXO41	150726	broad.mit.edu	37	2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:73492583C>T	uc002sjb.1	-	5	1574	c.1574G>A	c.(1573-1575)CGC>CAC	p.R525H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	464						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GATGGCCTGGCGCCGCAGGCC	0.701		NaN											0	0	0	0.004672	0	3	29				
WBP1	23559	broad.mit.edu	37	2	74687437	74687437	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:74687437C>T	uc002slj.1	+	4	592	c.439C>T	c.(439-441)CGC>TGC	p.R147C	WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.R144C|WBP1_uc002sll.1_RNA	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	WW domain binding protein 1	147							WW domain binding				0						GGCCCCAGGCCGCCCCTTGAC	0.602		NaN											0	0	0	0.01441	0	51	247				
SLC4A10	57282	broad.mit.edu	37	2	162820755	162820755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:162820755G>A	uc002ubx.3	+	22	3157	c.2973G>A	c.(2971-2973)ATG>ATA	p.M991I	SLC4A10_uc002uby.3_Missense_Mutation_p.M961I|SLC4A10_uc010zcs.1_Missense_Mutation_p.M972I	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	991	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TTATTCAGATGAGTTGCCTTG	0.393		NaN											0	0	0	0.009096	0	3	23				
TTN	7273	broad.mit.edu	37	2	179408943	179408943	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179408943G>T	uc010zfg.1	-	294	88533	c.88309C>A	c.(88309-88311)CCC>ACC	p.P29437T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23132T|TTN_uc010zfi.1_Missense_Mutation_p.P23065T|TTN_uc010zfj.1_Missense_Mutation_p.P22940T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30364							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCCACGGGCTCAATTTCA	0.388		NaN											1	0	0.00307968	0.00308	0.00331658	7	54				
TTN	7273	broad.mit.edu	37	2	179591911	179591911	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179591911C>T	uc010zfg.1	-	66	16673	c.16449G>A	c.(16447-16449)ATG>ATA	p.M5483I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2144I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6410							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATTGTTCATCTGTATGA	0.453		NaN											0	0	0	0.014758	0	5	78				
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:185801399G>T	uc002uph.2	+	4	1870	c.1276G>T	c.(1276-1278)GTA>TTA	p.V426L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TGAGCCATTTGTACCTGTCCT	0.373		NaN											1	0	1.5739e-10	0.028581	1.82241e-10	16	85				
ZNF142	7701	broad.mit.edu	37	2	219514052	219514052	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:219514052G>A	uc002vin.2	-	6	1015	c.579C>T	c.(577-579)TGC>TGT	p.C193C	ZNF142_uc002vil.2_Silent_p.C154C|ZNF142_uc010fvt.2_Silent_p.C30C|ZNF142_uc002vim.2_Silent_p.C30C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGTTAGGGCACTGGAGGC	0.557		NaN									OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.020292	0	13	37				
KIF1A	547	broad.mit.edu	37	2	241710435	241710435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:241710435G>A	uc002vzy.2	-	14	1413	c.1267C>T	c.(1267-1269)CGC>TGC	p.R423C	KIF1A_uc010fzk.2_Missense_Mutation_p.R432C|KIF1A_uc002vzz.1_Missense_Mutation_p.R432C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	423					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACAAGATGCGCTCGTGGAGG	0.647		NaN											0	0	0	0.025465	0	38	80				
KIF16B	55614	broad.mit.edu	37	20	16359928	16359928	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:16359928G>A	uc002wpg.1	-	19	2877	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	KIF16B_uc002wpe.1_Missense_Mutation_p.R289C|KIF16B_uc002wpf.1_Missense_Mutation_p.R289C|KIF16B_uc010gch.1_Missense_Mutation_p.R907C|KIF16B_uc010gci.1_Missense_Mutation_p.R907C|KIF16B_uc010gcj.1_Missense_Mutation_p.R918C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	907	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TGTAGCTGGCGTTCTTTATAT	0.438		NaN											0	0	0	0.021553	0	4	63				
ASXL1	171023	broad.mit.edu	37	20	31021631	31021631	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:31021631G>A	uc002wxs.2	+	11	2056	c.1630G>A	c.(1630-1632)GAT>AAT	p.D544N	ASXL1_uc010geb.2_Missense_Mutation_p.D435N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	544					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CCGGCTTGAAGATCGTCAGTC	0.532		NaN	F|N|Mis		MDS|CMML								0	0	0	0.013537	0	13	209				
ZNFX1	57169	broad.mit.edu	37	20	47863986	47863986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:47863986C>T	uc002xui.2	-	14	5822	c.5575G>A	c.(5575-5577)GAT>AAT	p.D1859N		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1859							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCCCACAATCGCCAATCACA	0.517		NaN											0	0	0	0.01441	0	52	114				
NCAM2	4685	broad.mit.edu	37	21	22696785	22696785	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr21:22696785C>A	uc002yld.1	+	6	951	c.702C>A	c.(700-702)GCC>GCA	p.A234A	NCAM2_uc011acb.1_Silent_p.A92A|NCAM2_uc011acc.1_Silent_p.A259A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	234	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCTGCAGGGCCTCAGGCTCTC	0.507		NaN											1	0	5.18039e-06	0.00308	5.73943e-06	7	107				
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45130923	45130923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr22:45130923G>A	uc003bfd.2	+	7	844	c.572G>A	c.(571-573)AGG>AAG	p.R191K	PRR5_uc003bew.1_Missense_Mutation_p.R182K|PRR5_uc003bex.1_Missense_Mutation_p.R96K|PRR5_uc010gzt.1_Missense_Mutation_p.R214K|PRR5_uc010gzu.1_Missense_Mutation_p.R155K|PRR5_uc003bey.1_Missense_Mutation_p.R182K|PRR5_uc003bez.1_Missense_Mutation_p.R96K|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R84K|PRR5_uc003bfb.1_Missense_Mutation_p.R191K|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R90K	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CATGAGTCCAGGGGCGTGACT	0.652		NaN											0	0	0	0.02938	0	7	59				
CNOT10	25904	broad.mit.edu	37	3	32811403	32811403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:32811403G>A	uc003cfc.1	+	18	2284	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	CNOT10_uc003cfd.1_Missense_Mutation_p.E676K|CNOT10_uc003cfe.1_Missense_Mutation_p.E650K|CNOT10_uc010hfv.1_Intron|CNOT10_uc011axj.1_Missense_Mutation_p.E737K|CNOT10_uc010hfw.1_Missense_Mutation_p.E372K	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	677					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						CCATCCTAAAGAGGTGCCCCC	0.453		NaN											0	0	0	0.013537	0	10	91				
KBTBD5	131377	broad.mit.edu	37	3	42732383	42732383	+	Missense_Mutation	SNP	G	G	A	rs144187563		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:42732383G>A	uc003clv.1	+	5	1740	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	547	Kelch 4.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCACAGGAGCGTAGCTCACTC	0.617		NaN											0	0	0	0.008291	0	8	74				
CCR5	1234	broad.mit.edu	37	3	46415257	46415257	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:46415257G>A	uc003cpo.3	+	3	986	c.864G>A	c.(862-864)ACG>ACA	p.T288T	CCR5_uc010hjd.2_Silent_p.T288T	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	288	Helical; Name=7; (Potential).		T -> M (in INCCR5-72A).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTGGGATGACGCACTGCTGCA	0.473		NaN											0	0	0	0.021523	0	24	376				
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:49412958A>G	uc003cwu.2	-	2	341	c.65T>C	c.(64-66)CTC>CCC	p.L22P	RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	22					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGACTATGAGCAAGCATGT	0.473		NaN											0	0	0	0.030466	0	42	82		Valid		
VPRBP	9730	broad.mit.edu	37	3	51457623	51457623	+	Missense_Mutation	SNP	C	C	T	rs114108730	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:51457623C>T	uc003dbe.1	-	14	2969	c.2801G>A	c.(2800-2802)CGG>CAG	p.R934Q	VPRBP_uc003dbf.1_Missense_Mutation_p.R210Q	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	934					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGGGGGGGCCGTGGCTGAGG	0.597		NaN											0	0	0	0.024245	0	15	47				
SENP7	57337	broad.mit.edu	37	3	101212807	101212807	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:101212807T>C	uc003dut.2	-	3	207	c.96A>G	c.(94-96)AGA>AGG	p.R32R	SENP7_uc003duu.2_Silent_p.R32R|SENP7_uc003duv.2_5'UTR|SENP7_uc003duw.2_Silent_p.R32R|SENP7_uc003dux.2_5'UTR	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	32					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTAACATCTTTCTTATCTGAA	0.358		NaN											0	0	0	0.0333	0	14	28				
STXBP5L	9515	broad.mit.edu	37	3	121137298	121137298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:121137298G>A	uc003eec.3	+	27	3553	c.3413G>A	c.(3412-3414)CGT>CAT	p.R1138H	STXBP5L_uc011bji.1_Missense_Mutation_p.R1114H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1138	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GAGCTGACCCGTGCACGGATT	0.532		NaN											0	0	0	0.013726	0	32	32				
KALRN	8997	broad.mit.edu	37	3	124132333	124132333	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:124132333A>G	uc003ehg.2	+	14	2484	c.2357A>G	c.(2356-2358)GAC>GGC	p.D786G	KALRN_uc010hrv.1_Missense_Mutation_p.D786G|KALRN_uc003ehf.1_Missense_Mutation_p.D786G|KALRN_uc011bjy.1_Missense_Mutation_p.D786G|KALRN_uc003ehh.1_Missense_Mutation_p.D132G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	786					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCAGAGCTAGACGCCTGGAAT	0.527		NaN											0	0	0	0.014758	0	5	40				
MUC4	4585	broad.mit.edu	37	3	195515077	195515077	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:195515077T>C	uc011bto.1	-	2	3834	c.3374A>G	c.(3373-3375)GAC>GGC	p.D1125G	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.557		NaN											0	0	0	0.004672	0	2	6				
MXD4	10608	broad.mit.edu	37	4	2254190	2254190	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:2254190T>C	uc003geu.1	-	4	286	c.254A>G	c.(253-255)GAC>GGC	p.D85G		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	85	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						GCGGGTGCTGTCGGGGCCCAG	0.637		NaN											0	0	0	0.013537	0	13	50				
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:6473933C>T	uc003gjc.2	-	1	394	c.24G>A	c.(22-24)CGG>CGA	p.R8R	PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	8					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GGTTAATTTTCCGCGTGTCCG	0.667		NaN											0	0	0	0.015359	0	31	237				
SORCS2	57537	broad.mit.edu	37	4	7725484	7725484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:7725484G>A	uc003gkb.3	+	19	2485	c.2485G>A	c.(2485-2487)GTG>ATG	p.V829M	SORCS2_uc011bwi.1_Missense_Mutation_p.V657M	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	829	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGCCATGTACGTGAACCTTAC	0.607		NaN											0	0	0	0.010504	0	19	185				
ANKRD50	57182	broad.mit.edu	37	4	125591960	125591960	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:125591960T>C	uc003ifg.3	-	3	2738	c.2472A>G	c.(2470-2472)CAA>CAG	p.Q824Q	ANKRD50_uc011cgo.1_Silent_p.Q645Q|ANKRD50_uc010inw.2_Silent_p.Q824Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	824	ANK 11.									central_nervous_system(1)	1						CAACATTTCCTTGTGCTGAAG	0.438		NaN											0	0	0	0.00308	0	8	86				
UGT3A1	133688	broad.mit.edu	37	5	35957445	35957445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:35957445T>C	uc003jjv.1	-	5	1077	c.920A>G	c.(919-921)CAT>CGT	p.H307R	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.H307R|UGT3A1_uc011cor.1_Missense_Mutation_p.H273R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGACTGATGGGTGTTCAA	0.488		NaN											0	0	0	0.02938	0	5	55				
NSA2	10412	broad.mit.edu	37	5	74069827	74069827	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:74069827C>T	uc003kdk.1	+	5	740	c.657C>T	c.(655-657)GTC>GTT	p.V219V		NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	219					rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1						AAGGTACTGTCATTGAAGTAA	0.423		NaN											0	0	0	0.00308	0	7	79				
PPIP5K2	23262	broad.mit.edu	37	5	102502895	102502895	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:102502895G>A	uc003kod.3	+	18	2452	c.1933G>A	c.(1933-1935)GGA>AGA	p.G645R	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G645R|PPIP5K2_uc003kof.2_5'Flank	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	645					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TACTCCATCTGGAAGCATTTC	0.294		NaN											0	0	0	0.02938	0	6	38				
PHF15	23338	broad.mit.edu	37	5	133914401	133914401	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:133914401C>T	uc003kzo.1	+	11	1946	c.1767C>T	c.(1765-1767)GAC>GAT	p.D589D	PHF15_uc011cxt.1_Silent_p.D633D|PHF15_uc003kzk.2_Silent_p.D649D|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Silent_p.D590D|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	589					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGTGACCCTGCTAGGA	0.662		NaN											0	0	0	0.02938	0	6	32				
FGFR4	2264	broad.mit.edu	37	5	176520735	176520735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:176520735G>A	uc003mfl.2	+	11	1645	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	FGFR4_uc003mfm.2_Missense_Mutation_p.R493Q|FGFR4_uc011dfu.1_Missense_Mutation_p.R425Q|FGFR4_uc003mfo.2_Missense_Mutation_p.R453Q	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	493	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCTGCCCGGCCTGACCAA	0.453		NaN								TSP Lung(9;0.080)			0	0	0	0.014758	0	5	42				
BTN2A2	10385	broad.mit.edu	37	6	26384093	26384093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:26384093T>C	uc003nhq.2	+	2	130	c.44T>C	c.(43-45)CTC>CCC	p.L15P	BTN2A2_uc011dkf.1_Missense_Mutation_p.L15P|BTN2A2_uc011dkg.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhr.2_Missense_Mutation_p.L15P|BTN2A2_uc011dkh.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhs.2_Missense_Mutation_p.L15P|BTN2A2_uc003nht.2_Missense_Mutation_p.L15P	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	15					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CCAGCCTCcctcctcctcctc	0.483		NaN											0	0	0	0.021553	0	3	101				
PBX2	5089	broad.mit.edu	37	6	32154671	32154671	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:32154671G>A	uc003oav.1	-	7	1303	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	344							transcription factor binding			ovary(1)	1						TGAAAGAGCCGCCAGAGCCTT	0.527		NaN											0	0	0	0.004672	0	3	49				
PNRC1	10957	broad.mit.edu	37	6	89793784	89793784	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:89793784A>T	uc003pmv.2	+	2	1038	c.853A>T	c.(853-855)AGT>TGT	p.S285C	PNRC1_uc003pmx.2_Missense_Mutation_p.S100C	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	285	SH3-binding.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GGCAAAGTTTAGTGATCCACC	0.408		NaN								Multiple Myeloma(7;0.094)			0	0	0	0.004672	0	3	57				
REV3L	5980	broad.mit.edu	37	6	111688580	111688580	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:111688580T>C	uc003puy.3	-	14	6734	c.6411A>G	c.(6409-6411)AAA>AAG	p.K2137K	REV3L_uc003pux.3_Silent_p.K2059K|REV3L_uc003puz.3_Silent_p.K2059K|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2137					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTTAATGCTTTGGAATCTG	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.028581	0	14	109				
CTAGE9	643854	broad.mit.edu	37	6	132031779	132031779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:132031779T>C	uc011ece.1	-	1	379	c.379A>G	c.(379-381)AGT>GGT	p.S127G	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	CTAGE family, member 4-like	127	Potential.					integral to membrane					0						GCCTCCAAACTTCGTGCTTCT	0.403		NaN											0	0	0	0.014323	0	18	107				
FNDC1	84624	broad.mit.edu	37	6	159654483	159654483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:159654483G>A	uc010kjv.2	+	11	3139	c.2939G>A	c.(2938-2940)CGT>CAT	p.R980H	FNDC1_uc010kjw.1_Missense_Mutation_p.R865H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCCTGCTCGTCCGCCCGCA	0.662		NaN											0	0	0	0.006214	0	5	15				
MEOX2	4223	broad.mit.edu	37	7	15652118	15652118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:15652118G>C	uc003stc.2	-	3	1090	c.809C>G	c.(808-810)TCA>TGA	p.S270*	MEOX2_uc011jxw.1_Nonsense_Mutation_p.S270*	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	270					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGACAGCTCTGATGGGAGAAG	0.537		NaN											0	0	0	0.006214	0	10	176				
CRHR2	1395	broad.mit.edu	37	7	30704745	30704745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:30704745G>A	uc003tbn.2	-	5	728	c.484C>T	c.(484-486)CGA>TGA	p.R162*	CRHR2_uc010kvw.1_Nonsense_Mutation_p.R162*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.R161*|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Nonsense_Mutation_p.R148*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.R189*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	162	Helical; Name=2; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						ATGACATTTCGCAGGATAAAG	0.572		NaN											0	0	0	0.02938	0	6	81				
SBDS	51119	broad.mit.edu	37	7	66459244	66459244	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:66459244G>A	uc003tvm.1	-	2	397	c.213C>T	c.(211-213)CTC>CTT	p.L71L	TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	71					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						ACGCACTGATGAGATCTTCCT	0.428		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	0.013537	0	9	119				
PPP1R9A	55607	broad.mit.edu	37	7	94917928	94917928	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:94917928T>C	uc003unp.2	+	15	3264	c.2982T>C	c.(2980-2982)TCT>TCC	p.S994S	PPP1R9A_uc010lfj.2_Silent_p.S1270S|PPP1R9A_uc011kif.1_Silent_p.S1192S|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Silent_p.S986S|PPP1R9A_uc003unr.2_Silent_p.S283S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	994	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCAGGTTTCTCACTGGTTAA	0.448		NaN								HNSCC(28;0.073)			0	0	0	0.013537	0	12	100				
MUC17	140453	broad.mit.edu	37	7	100679464	100679464	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100679464G>C	uc003uxp.1	+	3	4820	c.4767G>C	c.(4765-4767)GAG>GAC	p.E1589D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1589	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAACACCC	0.488		NaN											0	0	0	0.021523	0	26	383				
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	rs150077532	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:123516944C>T	uc003vlc.2	+	5	1819	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						ATGTGGAACGCGCCCAGTTAC	0.507		NaN											0	0	0	0.012319	0	21	72				
CCDC136	64753	broad.mit.edu	37	7	128452358	128452358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:128452358G>C	uc003vnv.1	+	13	2900	c.2533G>C	c.(2533-2535)GAC>CAC	p.D845H	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.D661H|CCDC136_uc010llq.1_Missense_Mutation_p.D214H|CCDC136_uc003vny.1_Missense_Mutation_p.D455H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	845						integral to membrane	protein binding			ovary(2)	2						TGAGCCTGAAGACATGGAGGT	0.522		NaN											0	0	0	0.004672	0	3	15				
OR2A12	346525	broad.mit.edu	37	7	143792375	143792375	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:143792375T>C	uc011kty.1	+	1	175	c.175T>C	c.(175-177)TAT>CAT	p.Y59H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					CACACCCATGTATGTCTTCCT	0.463		NaN											0	0	0	0.021553	0	5	109				
CNTNAP2	26047	broad.mit.edu	37	7	147600794	147600794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:147600794G>A	uc003weu.1	+	14	2752	c.2236G>A	c.(2236-2238)GAC>AAC	p.D746N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	746	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTAACTGCGACGCGGACTA	0.547		NaN								HNSCC(39;0.1)			0	0	0	0.004482	0	8	30				
NOS3	4846	broad.mit.edu	37	7	150696071	150696071	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:150696071G>A	uc003wif.2	+	8	1150	c.854G>A	c.(853-855)CGC>CAC	p.R285H	NOS3_uc011kuy.1_Missense_Mutation_p.R79H|NOS3_uc011kuz.1_Missense_Mutation_p.R285H|NOS3_uc011kva.1_Missense_Mutation_p.R285H|NOS3_uc011kvb.1_Missense_Mutation_p.R285H	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	285	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAACGGTCGCTTCGACGTG	0.672		NaN											0	0	0	0.017118	0	36	133				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:12957624C>G	uc003wwm.2	-	9	2666	c.2222G>C	c.(2221-2223)AGC>ACC	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCTGCTGCTGCTGGTCTGCGT	0.627		NaN											0	0	0	0.02938	0	6	82				
VDAC3	7419	broad.mit.edu	37	8	42260958	42260958	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:42260958G>A	uc011lct.1	+	8	824	c.681G>A	c.(679-681)CTG>CTA	p.L227L	VDAC3_uc003xpc.2_Silent_p.L228L	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	227	Beta stranded; (By similarity).				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGTACATGCTGGATTGTAGAA	0.413		NaN											0	0	0	0.009096	0	4	113				
ZNF704	619279	broad.mit.edu	37	8	81582753	81582753	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:81582753C>T	uc003yby.1	-	5	876	c.644G>A	c.(643-645)CGA>CAA	p.R215Q		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	215	C2H2-type.					intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATGGATGGTTCGGATGTGTTT	0.527		NaN											0	0	0	0.016723	0	10	114				
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394752C>T	uc003ylk.2	+	4	755	c.656C>T	c.(655-657)TCA>TTA	p.S219L		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373		NaN											0	0	0	0.024245	0	11	118				
CTHRC1	115908	broad.mit.edu	37	8	104394804	104394804	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394804C>T	uc003ylk.2	+	4	807	c.708C>T	c.(706-708)ATC>ATT	p.I236I		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	236						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTCTCGCATCATTATTGAAG	0.343		NaN											0	0	0	0.008291	0	9	92				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.00308	0	4	33				
BAAT	570	broad.mit.edu	37	9	104124824	104124824	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:104124824C>T	uc010mtd.2	-	4	1252	c.1143G>A	c.(1141-1143)AGG>AGA	p.R381R	BAAT_uc004bbd.3_Silent_p.R381R	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	381					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCAGTGTAACCTCAAATCGT	0.537		NaN											0	0	0	0.021553	0	6	47				
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:116840418C>T	uc004bie.3	-	1	335	c.72G>A	c.(70-72)ACG>ACA	p.T24T	AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617		NaN											0	0	0	0.006214	0	9	88				
ACE2	59272	broad.mit.edu	37	X	15605982	15605982	+	Splice_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:15605982C>A	uc004cxa.1	-	6	865	c.697_splice	c.e6-1	p.I233_splice	ACE2_uc004cxb.2_Splice_Site_p.I233_splice	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATGGTTTAATCTGAAAAGCCC	0.368		NaN											1	0	2.32078e-09	0.024245	2.64741e-09	14	16				
YY2	404281	broad.mit.edu	37	X	21863399	21863399	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:21863399C>T	uc010nfq.2	+	3	532	c.335C>T	c.(334-336)TCT>TTT	p.S112F	MBTPS2_uc004dae.2_Missense_Mutation_p.S112F|MBTPS2_uc004dab.2_Missense_Mutation_p.S112F	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						tctccctcttcttattcttcc	0.249		NaN											0	0	0	0.006214	0	8	60				
CDK11B	984	broad.mit.edu	37	1	1572548	1572548	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1572548C>G	uc001agv.1	-	19	1698	c.1587G>C	c.(1585-1587)CTG>CTC	p.L529L	CDK11B_uc009vkj.2_Silent_p.L186L|CDK11B_uc001ags.1_Silent_p.L387L|CDK11B_uc001agt.1_Silent_p.L312L|CDK11B_uc001aha.1_Silent_p.L495L|CDK11B_uc001agw.1_Silent_p.L484L|CDK11B_uc001agy.1_Silent_p.L527L|CDK11B_uc001agx.1_Silent_p.L518L|CDK11B_uc001agz.1_Silent_p.L273L	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	542	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						GCTGGATCATCAGGGTCTTCA	0.652		NaN											0	0	0	1	0	6	88				
CDK11A	728642	broad.mit.edu	37	1	1635767	1635767	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1635767C>G	uc009vks.2	-	15	1689	c.1581G>C	c.(1579-1581)CTG>CTC	p.L527L	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.L34L|CDK11A_uc009vkp.2_Silent_p.L144L|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.L517L|CDK11A_uc010nys.1_3'UTR	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	530	Protein kinase.				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GCTGGATCATCAGGGTCTTCA	0.672		NaN											0	0	0	1	0	10	36				
MEGF6	1953	broad.mit.edu	37	1	3511904	3511904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:3511904G>C	uc001akl.2	-	3	601	c.374C>G	c.(373-375)TCG>TGG	p.S125W		NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	125	EGF-like 1.|EMI.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCACTCACCCGAGAGGCAGCC	0.682		NaN											0	0	0	1	0	40	39				
KIF1B	23095	broad.mit.edu	37	1	10342591	10342591	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:10342591G>A	uc001aqx.3	+	15	1636	c.1434G>A	c.(1432-1434)AAG>AAA	p.K478K	KIF1B_uc001aqv.3_Silent_p.K432K|KIF1B_uc001aqw.3_Silent_p.K432K|KIF1B_uc001aqy.2_Silent_p.K452K|KIF1B_uc001aqz.2_Silent_p.K478K|KIF1B_uc001ara.2_Silent_p.K438K|KIF1B_uc001arb.2_Silent_p.K464K	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	478	Potential.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACGTTTAAAGGTAAGTAATA	0.294		NaN											0	0	0	1	0	41	89				
FBXO2	26232	broad.mit.edu	37	1	11708844	11708844	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:11708844G>A	uc001asj.2	-	6	1140	c.798C>T	c.(796-798)TTC>TTT	p.F266F	FBXO2_uc009vna.2_Silent_p.F269F	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	F-box only protein 2	266	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity				0	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGCGGACGAAGCGGACGC	0.677		NaN											0	0	0	1	0	137	103				
VPS13D	55187	broad.mit.edu	37	1	12337497	12337497	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:12337497C>G	uc001atv.2	+	19	3993	c.3852C>G	c.(3850-3852)CTC>CTG	p.L1284L	VPS13D_uc001atw.2_Silent_p.L1284L|VPS13D_uc001atx.2_Silent_p.L472L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1284					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGTTTTCTCAACCTGAAGA	0.398		NaN											0	0	0	1	0	125	134				
UBR4	23352	broad.mit.edu	37	1	19477120	19477120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:19477120C>T	uc001bbi.2	-	49	7385	c.7381G>A	c.(7381-7383)GAT>AAT	p.D2461N	UBR4_uc001bbk.1_Missense_Mutation_p.D115N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2461					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGTCGCTATCTCCAGTGCCG	0.547		NaN											0	0	0	1	0	203	205				
LDLRAD2	401944	broad.mit.edu	37	1	22141309	22141309	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:22141309C>T	uc001bfg.1	+	2	691	c.504C>T	c.(502-504)TTC>TTT	p.F168F		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	168	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TCACCTCTTTCCGTCTGGGTG	0.711		NaN											0	0	0	1	0	8	9				
C1orf213	148898	broad.mit.edu	37	1	23695890	23695890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:23695890C>T	uc001bgw.2	+	1	427	c.100C>T	c.(100-102)CGT>TGT	p.R34C	ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Missense_Mutation_p.R34C	NM_138479	NP_612488			hypothetical protein LOC148898 isoform 1												0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACTAGATCGTCGTCTCCAAAA	0.572		NaN											0	0	0	1	0	34	47				
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27106492G>T	uc001bmv.1	+	20	6476	c.6103G>T	c.(6103-6105)GAG>TAG	p.E2035*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1818*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E881*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E363*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E277*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2035					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAAAGGAGGAGGAACAGGA	0.557		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								1	0	2.47907e-22	1	2.60217e-22	54	100		Valid		
SFN	2810	broad.mit.edu	37	1	27189727	27189727	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27189727G>A	uc001bnc.1	+	1	95	c.24G>A	c.(22-24)CAG>CAA	p.Q8Q		NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	8					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GTCTGATCCAGAAGGCCAAGC	0.627		NaN											0	0	0	1	0	76	85				
SDC3	9672	broad.mit.edu	37	1	31347175	31347175	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:31347175C>T	uc001bse.2	-	4	1178	c.1131G>A	c.(1129-1131)AAG>AAA	p.K377K	SDC3_uc001bsd.2_Silent_p.K319K	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	377	Extracellular (Potential).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATACTCTTCTGAGGCA	0.652		NaN											0	0	0	1	0	38	46				
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33363913C>G	uc001bwi.1	-	2	138	c.24G>C	c.(22-24)CTG>CTC	p.L8L	TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617		NaN											0	0	0	1	0	44	55				
CSMD2	114784	broad.mit.edu	37	1	33987087	33987087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33987087C>G	uc001bxn.1	-	67	10170	c.10141G>C	c.(10141-10143)GGG>CGG	p.G3381R	CSMD2_uc001bxm.1_Missense_Mutation_p.G3525R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3381	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGAACTGCCCAAAGCCTTGG	0.602		NaN											0	0	0	1	0	37	69				
ZMYM6	9204	broad.mit.edu	37	1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:35485180G>A	uc001byh.2	-	4	430	c.202C>T	c.(202-204)CAG>TAG	p.Q68*	ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc010oht.1_5'UTR|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byi.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byk.2_Nonsense_Mutation_p.Q68*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	68					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368		NaN											0	0	0	1	0	22	39				
CLSPN	63967	broad.mit.edu	37	1	36211080	36211080	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:36211080G>C	uc001bzi.2	-	16	3018	c.2938C>G	c.(2938-2940)CTT>GTT	p.L980V	CLSPN_uc009vux.2_Missense_Mutation_p.L916V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	980	CKB motif 3.				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTGAGCAAAGAGCAAGTGCT	0.438		NaN											0	0	0	1	0	30	42				
MANEAL	149175	broad.mit.edu	37	1	38265658	38265658	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:38265658C>T	uc001cby.2	+	4	1238	c.1157C>T	c.(1156-1158)ACG>ATG	p.T386M	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.T164M	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	386	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACTATGAGACGGCCCTGCAG	0.567		NaN											0	0	0	1	0	47	60				
TESK2	10420	broad.mit.edu	37	1	45811074	45811074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:45811074G>C	uc001cns.1	-	11	1557	c.1154C>G	c.(1153-1155)CCA>CGA	p.P385R	TESK2_uc009vxr.1_Missense_Mutation_p.P356R|TESK2_uc010olo.1_Missense_Mutation_p.P302R|TESK2_uc009vxs.1_Missense_Mutation_p.P177R	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	385					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CCGGTAGTATGGGTCCAAGAC	0.557		NaN											0	0	0	1	0	55	48				
IPP	3652	broad.mit.edu	37	1	46212053	46212053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46212053C>T	uc001cou.2	-	2	298	c.31G>A	c.(31-33)GAT>AAT	p.D11N	IPP_uc001cos.3_Missense_Mutation_p.D11N	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	11						actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AAAGGACTATCAGCAGCCTTG	0.408		NaN											0	0	0	1	0	48	118				
LRRC41	10489	broad.mit.edu	37	1	46751935	46751935	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46751935G>C	uc001cpn.2	-	4	638	c.594C>G	c.(592-594)CTC>CTG	p.L198L	LRRC41_uc010omb.1_Silent_p.L198L|LRRC41_uc001cpo.1_Silent_p.L198L	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	198										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGCGGAACTTGAGAGTGTGCA	0.592		NaN											0	0	0	1	0	40	45				
HOOK1	51361	broad.mit.edu	37	1	60297859	60297859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:60297859C>T	uc009wad.2	+	5	349	c.247C>T	c.(247-249)CAA>TAA	p.Q83*	HOOK1_uc001czo.2_Nonsense_Mutation_p.Q83*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.Q41*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	83	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					GAAGGTCCTTCAAGGAATTAT	0.289		NaN											0	0	0	1	0	56	85				
IFI44L	10964	broad.mit.edu	37	1	79093672	79093672	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:79093672G>C	uc010oro.1	+	2	251	c.72G>C	c.(70-72)TTG>TTC	p.L24F	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	24						cytoplasm					0						ATGTTTCTTTGAGTCTTCTCT	0.363		NaN											0	0	0	1	0	32	24				
SEP15	9403	broad.mit.edu	37	1	87379771	87379771	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:87379771C>G	uc010osi.1	-	1	337	c.24G>C	c.(22-24)CCG>CCC	p.P8P	HS2ST1_uc001dmc.3_5'Flank|HS2ST1_uc010osk.1_5'Flank|SEP15_uc010osj.1_Silent_p.P8P	NM_004261	NP_004252	O60613	SEP15_HUMAN	15 kDa selenoprotein isoform 1 precursor	5					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding				0		Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GACACCCACTCGGCCCAGCCG	0.587		NaN											0	0	0	1	0	53	74				
LRRC8C	84230	broad.mit.edu	37	1	90179371	90179371	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:90179371G>A	uc001dnl.3	+	3	1484	c.1242G>A	c.(1240-1242)CTG>CTA	p.L414L		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	414	LRR 1.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGATAAACTGAGGCAGAAGC	0.413		NaN											0	0	0	1	0	41	53				
SNX7	51375	broad.mit.edu	37	1	99150470	99150470	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:99150470C>G	uc010ouc.1	+	2	262	c.210C>G	c.(208-210)TTC>TTG	p.F70L	SNX7_uc001dsa.2_Missense_Mutation_p.F6L|SNX7_uc010oud.1_Missense_Mutation_p.F70L	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a	6					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGAACTCCTTCAGCCCTATGA	0.338		NaN											0	0	0	1	0	50	85				
FAM40A	85369	broad.mit.edu	37	1	110591786	110591786	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110591786G>C	uc001dza.1	+	16	1733	c.1714G>C	c.(1714-1716)GAG>CAG	p.E572Q	FAM40A_uc001dyz.1_Missense_Mutation_p.E477Q|FAM40A_uc009wfp.1_Missense_Mutation_p.E396Q	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	572						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CCGCCACAAAGAGGTCATTGT	0.522		NaN											0	0	0	1	0	30	50				
FAM40A	85369	broad.mit.edu	37	1	110592108	110592108	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110592108G>A	uc001dza.1	+	17	1834	c.1815G>A	c.(1813-1815)GTG>GTA	p.V605V	FAM40A_uc001dyz.1_Silent_p.V510V|FAM40A_uc009wfp.1_Silent_p.V429V	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	605						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		AGCACCTGGTGTTTGCCAACT	0.473		NaN											0	0	0	1	0	57	72				
PPM1J	333926	broad.mit.edu	37	1	113253221	113253221	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:113253221C>G	uc001ect.1	-	9	1258	c.1231G>C	c.(1231-1233)GAC>CAC	p.D411H	PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.D205H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	protein phosphatase 1J (PP2C domain containing)	411	PP2C-like.									breast(2)|central_nervous_system(1)	3	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGTCAGGTCATACACTCGT	0.532		NaN											0	0	0	1	0	90	125				
OLFML3	56944	broad.mit.edu	37	1	114523069	114523069	+	Missense_Mutation	SNP	G	G	C	rs144544470	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:114523069G>C	uc001eer.1	+	2	339	c.230G>C	c.(229-231)AGA>ACA	p.R77T	OLFML3_uc001ees.1_Missense_Mutation_p.R57T|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	77	Potential.				multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACTCAGAACTGAGGCC	0.587		NaN											0	0	0	1	0	40	71				
TRIM45	80263	broad.mit.edu	37	1	117656050	117656050	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:117656050G>A	uc001egz.2	-	5	2113	c.1525C>T	c.(1525-1527)CAC>TAC	p.H509Y	TRIM45_uc009whe.2_Missense_Mutation_p.H491Y|TRIM45_uc001eha.2_Missense_Mutation_p.H405Y	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	509						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTGCAGCAGTGAAACACGCCT	0.572		NaN											0	0	0	1	0	48	39				
FAM72D	728833	broad.mit.edu	37	1	143912363	143912363	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:143912363G>C	uc002qvn.1	-	1	781	c.-67C>G	c.(-69--65)ATCAA>ATGAA		FAM72D_uc010evy.1_Translation_Start_Site	NM_207418	NP_997301	Q6L9T8	FA72D_HUMAN	hypothetical protein LOC653573												0						CTACTATTTTGATTCCCCTAG	0.418		NaN											0	0	0	1	0	41	80				
PDE4DIP	9659	broad.mit.edu	37	1	144882814	144882814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:144882814C>T	uc001elw.3	-	24	3496	c.3205G>A	c.(3205-3207)GAT>AAT	p.D1069N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D1135N|PDE4DIP_uc001elv.3_Missense_Mutation_p.D76N	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1069					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCATCCATCAGACATTGCT	0.512		NaN	T	PDGFRB	MPD								0	0	0	1	0	116	494				
PDE4DIP	9659	broad.mit.edu	37	1	145075664	145075664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145075664C>A	uc001emh.2	-	1	416	c.199G>T	c.(199-201)GAA>TAA	p.E67*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Nonsense_Mutation_p.E67*|PDE4DIP_uc001emk.2_Nonsense_Mutation_p.E67*	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCTTCTTCCTCCTCGGCC	0.721		NaN	T	PDGFRB	MPD								1	0	6.05902e-23	1	6.3708e-23	25	208				
NOTCH2NL	388677	broad.mit.edu	37	1	145281491	145281491	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145281491G>A	uc001emn.3	+	4	791	c.421G>A	c.(421-423)GAG>AAG	p.E141K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.E141K|NOTCH2NL_uc001emo.2_Missense_Mutation_p.E141K|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	141	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						GCAGAAGTGTGAGACTGATGT	0.552		NaN											0	0	0	1	0	64	553				
TXNIP	10628	broad.mit.edu	37	1	145439874	145439874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145439874G>C	uc001enn.3	+	3	761	c.420G>C	c.(418-420)AAG>AAC	p.K140N	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.K85N	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	140					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGAGACAAAGAAAAACTTTG	0.438		NaN											0	0	0	1	0	62	68		Valid		
TXNIP	10628	broad.mit.edu	37	1	145440123	145440123	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145440123G>A	uc001enn.3	+	4	898	c.557G>A	c.(556-558)AGA>AAA	p.R186K	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R131K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	186					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAATTGACAGAAAAGGATTC	0.458		NaN											0	0	0	1	0	101	142		Valid		
ADAMTSL4	54507	broad.mit.edu	37	1	150532597	150532597	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:150532597C>T	uc001eux.2	+	19	3386	c.3150C>T	c.(3148-3150)GTC>GTT	p.V1050V	ADAMTSL4_uc009wlw.2_Silent_p.V1073V|ADAMTSL4_uc010pcg.1_Silent_p.V1011V|ADAMTSL4_uc009wlx.2_Silent_p.V213V	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	1050	PLAC.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCTCTGCGTCTACCCCTACT	0.622		NaN									OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	89	131				
SEMA6C	10500	broad.mit.edu	37	1	151111130	151111130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151111130G>C	uc001ewu.2	-	7	732	c.432C>G	c.(430-432)TTC>TTG	p.F144L	SEMA6C_uc001ewv.2_Missense_Mutation_p.F144L|SEMA6C_uc001eww.2_Missense_Mutation_p.F144L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F144L|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	144	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACACAGGGCTGAATGAGTTCG	0.527		NaN											0	0	0	1	0	36	53				
RFX5	5993	broad.mit.edu	37	1	151316209	151316209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151316209G>A	uc001exv.1	-	9	919	c.705C>T	c.(703-705)CTC>CTT	p.L235L	RFX5_uc001exw.1_Silent_p.L235L|RFX5_uc009wmr.1_Silent_p.L235L|RFX5_uc010pcx.1_Silent_p.L195L	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	235						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCAGAGATGAGATGCTGCT	0.582		NaN											0	0	0	1	0	40	66				
ASH1L	55870	broad.mit.edu	37	1	155365333	155365333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:155365333C>T	uc009wqq.2	-	7	6500	c.6020G>A	c.(6019-6021)CGA>CAA	p.R2007Q	ASH1L_uc001fkt.2_Missense_Mutation_p.R2007Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2007					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGGATCAATCGACTCTTTGG	0.413		NaN											0	0	0	1	0	28	42				
LMNA	4000	broad.mit.edu	37	1	156100507	156100507	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156100507C>G	uc001fni.2	+	2	705	c.456C>G	c.(454-456)CTC>CTG	p.L152L	LMNA_uc001fnf.1_Silent_p.L152L|LMNA_uc001fng.2_Silent_p.L152L|LMNA_uc001fnh.2_Silent_p.L152L|LMNA_uc009wro.1_Silent_p.L152L|LMNA_uc010pgz.1_Silent_p.L40L|LMNA_uc001fnj.2_Silent_p.L71L|LMNA_uc001fnk.2_Silent_p.L53L	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	152	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					GCACTGCTCTCAGTGAGAAGC	0.637		NaN							Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	14	19				
SMG5	23381	broad.mit.edu	37	1	156230322	156230322	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156230322G>A	uc001foc.3	-	15	2352	c.2203C>T	c.(2203-2205)CGT>TGT	p.R735C	SMG5_uc009wrv.2_Missense_Mutation_p.R220C	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	735					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GGCAGGTTACGAAGAGCCATG	0.562		NaN											0	0	0	1	0	46	63				
NES	10763	broad.mit.edu	37	1	156639156	156639156	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156639156C>G	uc001fpq.2	-	4	4957	c.4824G>C	c.(4822-4824)CAG>CAC	p.Q1608H		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1608	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTTCCCTCTGAGTGAACT	0.617		NaN											0	0	0	1	0	33	59				
FCRL3	115352	broad.mit.edu	37	1	157665209	157665209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:157665209G>A	uc001frb.2	-	8	1613	c.1321C>T	c.(1321-1323)CTG>TTG	p.L441L	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L441L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L167L|FCRL3_uc001frc.1_Silent_p.L441L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	441	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TCTGCAGTCAGAGAGAGGTTG	0.557		NaN											0	0	0	1	0	90	131				
CADM3	57863	broad.mit.edu	37	1	159169587	159169587	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:159169587C>T	uc001ftl.2	+	8	1141	c.999C>T	c.(997-999)ATC>ATT	p.I333I	CADM3_uc001ftk.2_Silent_p.I367I|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	333	Helical; (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					ACGCCATCATCGGTGGGATCG	0.542		NaN											0	0	0	1	0	73	75				
COPA	1314	broad.mit.edu	37	1	160262955	160262955	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160262955C>T	uc009wti.2	-	27	3217	c.2823_splice	c.e27+1	p.R941_splice	COPA_uc001fvv.3_Splice_Site_p.R950_splice	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTTACTTACCCGCATGGCT	0.468		NaN											0	0	0	1	0	51	226				
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160681499G>A	uc001fwn.2	-	1	87	c.55C>T	c.(55-57)CTG>TTG	p.L19L	CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	19					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532		NaN											0	0	0	1	0	34	57				
GPA33	10223	broad.mit.edu	37	1	167038281	167038281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167038281G>C	uc001gea.1	-	3	637	c.293C>G	c.(292-294)TCC>TGC	p.S98C		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	98	Ig-like V-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						GGAGGCATCGGACTGCTCAGC	0.502		NaN											0	0	0	1	0	34	46				
CD247	919	broad.mit.edu	37	1	167408587	167408587	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167408587G>C	uc001gei.3	-	3	358	c.213C>G	c.(211-213)CTC>CTG	p.L71L	CD247_uc001gej.3_Silent_p.L71L|CD247_uc001gek.2_Silent_p.L71L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	71	Cytoplasmic (Potential).|ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			TTACGTTATAGAGCTGGTTCT	0.572		NaN											0	0	0	1	0	53	103				
GPR161	23432	broad.mit.edu	37	1	168056841	168056841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168056841C>A	uc001gfc.2	-	7	1620	c.1306G>T	c.(1306-1308)GAA>TAA	p.E436*	GPR161_uc001gfb.2_Nonsense_Mutation_p.E304*|GPR161_uc010pll.1_Nonsense_Mutation_p.E346*|GPR161_uc010plm.1_Nonsense_Mutation_p.E322*|GPR161_uc009wvo.2_Nonsense_Mutation_p.E453*|GPR161_uc001gfd.2_Nonsense_Mutation_p.E436*|GPR161_uc010pln.1_Nonsense_Mutation_p.E456*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	436	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					TGTTCCACTTCATCCTCAAAT	0.483		NaN											1	0	1.15365e-47	1	1.23418e-47	95	143				
TIPRL	261726	broad.mit.edu	37	1	168165852	168165852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168165852G>C	uc001gfg.2	+	5	729	c.584G>C	c.(583-585)AGA>ACA	p.R195T	TIPRL_uc001gfh.2_Missense_Mutation_p.R195T	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	195	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					GTGCTTATCAGAATGAATGAC	0.328		NaN											0	0	0	1	0	65	90				
NME7	29922	broad.mit.edu	37	1	169292506	169292506	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:169292506G>A	uc001gfu.2	-	3	365	c.127C>T	c.(127-129)CAT>TAT	p.H43Y	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.H7Y|NME7_uc001gfv.1_Missense_Mutation_p.H43Y	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	43	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					AAGGTGCGATGATTCTTTACA	0.308		NaN											0	0	0	1	0	68	106				
SMG7	9887	broad.mit.edu	37	1	183518360	183518360	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183518360G>T	uc001gqg.2	+	18	2882	c.2760G>T	c.(2758-2760)AAG>AAT	p.K920N	SMG7_uc001gqf.2_Missense_Mutation_p.K924N|SMG7_uc001gqh.2_Missense_Mutation_p.K874N|SMG7_uc001gqi.2_Missense_Mutation_p.K832N|SMG7_uc010poc.1_Missense_Mutation_p.K928N	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	920					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TATTGGAGAAGCCCTCAGAGC	0.388		NaN											1	0	9.72345e-25	1	1.02414e-24	41	42				
SMG7	9887	broad.mit.edu	37	1	183520021	183520021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183520021G>A	uc001gqg.2	+	20	3241	c.3119G>A	c.(3118-3120)AGA>AAA	p.R1040K	SMG7_uc001gqf.2_Missense_Mutation_p.R1044K|SMG7_uc001gqh.2_Missense_Mutation_p.R994K|SMG7_uc001gqi.2_Missense_Mutation_p.R952K|SMG7_uc010poc.1_Missense_Mutation_p.R1048K	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	1040					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AACAGGGATAGAAGGACTGCA	0.458		NaN											0	0	0	1	0	63	62				
GLT25D2	23127	broad.mit.edu	37	1	183920230	183920230	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183920230G>C	uc001gqr.2	-	8	1419	c.1047C>G	c.(1045-1047)CTC>CTG	p.L349L	GLT25D2_uc010poj.1_Silent_p.L349L|GLT25D2_uc001gqq.2_Silent_p.L86L|GLT25D2_uc001gqs.2_Silent_p.L229L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	349					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						TTCTGCGTTTGAGGTTTATCA	0.413		NaN											0	0	0	1	0	127	202				
NEK7	140609	broad.mit.edu	37	1	198262135	198262135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:198262135C>T	uc001gun.3	+	8	977	c.650C>T	c.(649-651)TCT>TTT	p.S217F		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	217	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						AACTTCAAATCTGACATCTGG	0.323		NaN											0	0	0	1	0	133	170				
OPTC	26254	broad.mit.edu	37	1	203467966	203467966	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:203467966G>C	uc001gzu.1	+	4	644	c.528G>C	c.(526-528)CTG>CTC	p.L176L		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	176						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAAAGGGCTGAGTATGTAAT	0.557		NaN											0	0	0	1	0	45	55				
IKBKE	9641	broad.mit.edu	37	1	206649607	206649607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:206649607G>T	uc001hdz.1	+	6	810	c.442G>T	c.(442-444)GAG>TAG	p.E148*	IKBKE_uc009xbu.1_Nonsense_Mutation_p.E148*|IKBKE_uc009xbv.1_Nonsense_Mutation_p.E148*|IKBKE_uc001hea.1_Nonsense_Mutation_p.E63*	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	148	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CGTAGGGGAGGAGGGGCAGAG	0.607		NaN											1	0	5.5144e-22	1	5.76848e-22	59	81				
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:228467882C>T	uc009xez.1	+	29	7710	c.7666C>T	c.(7666-7668)CGG>TGG	p.R2556W	OBSCN_uc001hsn.2_Missense_Mutation_p.R2556W|OBSCN_uc001hsp.1_Missense_Mutation_p.R255W|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2556	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642		NaN											0	0	0	1	0	55	73				
LYST	1130	broad.mit.edu	37	1	235929543	235929543	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:235929543C>T	uc001hxj.2	-	21	6132	c.5957G>A	c.(5956-5958)CGA>CAA	p.R1986Q	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1986					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAACCTCTCGGGGCATGGG	0.328		NaN							Chediak-Higashi_syndrome				0	0	0	1	0	121	123				
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248224664G>A	uc001idx.1	+	1	681	c.681G>A	c.(679-681)ATG>ATA	p.M227I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468		NaN											0	0	0	1	0	92	158				
OR2M5	127059	broad.mit.edu	37	1	248309371	248309371	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248309371G>T	uc010pze.1	+	1	922	c.922G>T	c.(922-924)GGC>TGC	p.G308C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTTAGGAAAGGGCAAGTGTGG	0.433		NaN											1	0	2.44723e-14	1	2.52127e-14	27	43				
DHTKD1	55526	broad.mit.edu	37	10	12139993	12139993	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12139993C>G	uc001ild.3	+	8	1768	c.1669C>G	c.(1669-1671)CAG>GAG	p.Q557E		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	557					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACACATGTTCAGGTGGGCAG	0.502		NaN											0	0	0	1	0	42	58				
CAMK1D	57118	broad.mit.edu	37	10	12811675	12811675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12811675G>A	uc001ilo.2	+	5	677	c.442G>A	c.(442-444)GAA>AAA	p.E148K	CAMK1D_uc001iln.2_Missense_Mutation_p.E148K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	148	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCTAGCCCGAAAATCTCTT	0.388		NaN											0	0	0	1	0	28	27				
ERCC6	2074	broad.mit.edu	37	10	50682233	50682233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50682233G>A	uc001jhs.3	-	13	2592	c.2438C>T	c.(2437-2439)TCT>TTT	p.S813F	ERCC6_uc009xod.2_5'UTR|ERCC6_uc010qgr.1_Missense_Mutation_p.S183F|ERCC6_uc001jhr.3_Missense_Mutation_p.S181F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	813					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GGGACCTCCAGAAAAGAGATC	0.413		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	54	62				
SLC18A3	6572	broad.mit.edu	37	10	50819248	50819248	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50819248G>A	uc001jhw.2	+	1	902	c.462G>A	c.(460-462)CCG>CCA	p.P154P	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	154	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGACGTGCCGCTGCTGATCG	0.637		NaN											0	0	0	1	0	45	150				
OGDHL	55753	broad.mit.edu	37	10	50955190	50955190	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50955190C>T	uc001jie.2	-	9	1194	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	OGDHL_uc009xog.2_Missense_Mutation_p.R378Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R294Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R142Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R142Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	351					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						AGTGATGTTCCGGTTGGTGAC	0.587		NaN											0	0	0	1	0	61	82				
PCDH15	65217	broad.mit.edu	37	10	55663071	55663071	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:55663071G>C	uc001jju.1	-	26	3828	c.3433C>G	c.(3433-3435)CAG>GAG	p.Q1145E	PCDH15_uc010qhq.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1157E|PCDH15_uc010qht.1_Missense_Mutation_p.Q1152E|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1145E|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1108E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1074E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1123E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1123E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1145	Cadherin 11.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTTTTTCTGAAACACTGGG	0.353		NaN								HNSCC(58;0.16)			0	0	0	1	0	35	38				
HKDC1	80201	broad.mit.edu	37	10	71020971	71020971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:71020971C>G	uc001jpf.3	+	16	2426	c.2293C>G	c.(2293-2295)CTC>GTC	p.L765V	HKDC1_uc010qje.1_Missense_Mutation_p.L628V|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	765					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CAAGCAGGGTCTCCTCTTCCG	0.517		NaN											0	0	0	1	0	41	54				
CHCHD1	118487	broad.mit.edu	37	10	75542839	75542839	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:75542839G>A	uc001jvc.3	+	3	277	c.251G>A	c.(250-252)CGA>CAA	p.R84Q	CHCHD1_uc001jvb.2_3'UTR|KIAA0913_uc009xrk.1_5'Flank|KIAA0913_uc001jve.2_5'Flank|KIAA0913_uc009xrl.2_5'Flank|KIAA0913_uc001jvf.2_5'Flank	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain	84						nucleus					0	Prostate(51;0.0112)					CAGGAAGCCCGAAAGATGAGA	0.378		NaN											0	0	0	1	0	58	71				
IFIT2	3433	broad.mit.edu	37	10	91066854	91066854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:91066854C>T	uc009xts.2	+	2	1316	c.1141C>T	c.(1141-1143)CAG>TAG	p.Q381*	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	381	TPR 6.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				TGGCAACTTTCAGCTGTACCA	0.403		NaN											0	0	0	1	0	74	41				
C10orf129	142827	broad.mit.edu	37	10	96967005	96967005	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:96967005G>C	uc001kke.2	+	4	569	c.444G>C	c.(442-444)AAG>AAC	p.K148N	C10orf129_uc009xuu.1_Missense_Mutation_p.K58N	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	acyl-coenzyme A synthetase ACSM6, mitochondrial	148					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGACTGCCAAGAAAATTCGCT	0.463		NaN											0	0	0	1	0	76	59				
PPRC1	23082	broad.mit.edu	37	10	103898696	103898696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103898696G>A	uc001kum.2	+	4	589	c.550G>A	c.(550-552)GAC>AAC	p.D184N	PPRC1_uc001kun.2_Missense_Mutation_p.D64N|PPRC1_uc010qqj.1_Missense_Mutation_p.D184N|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCCCAGTTGACCCACTGGG	0.562		NaN											0	0	0	1	0	67	55				
PPRC1	23082	broad.mit.edu	37	10	103899460	103899460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103899460G>C	uc001kum.2	+	5	1234	c.1195G>C	c.(1195-1197)GAG>CAG	p.E399Q	PPRC1_uc001kun.2_Missense_Mutation_p.E279Q|PPRC1_uc010qqj.1_Missense_Mutation_p.E399Q|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGAGACAGAGGCTGCTGT	0.562		NaN											0	0	0	1	0	137	152				
SLK	9748	broad.mit.edu	37	10	105768064	105768064	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:105768064G>C	uc001kxo.1	+	12	2768	c.2734G>C	c.(2734-2736)GAG>CAG	p.E912Q	SLK_uc001kxp.1_Missense_Mutation_p.E912Q	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	912	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.E912*(1)		ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAGAACAAGAGAAAGAGTT	0.363		NaN											0	0	0	1	0	29	85				
SORCS1	114815	broad.mit.edu	37	10	108412274	108412274	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:108412274C>T	uc001kym.2	-	18	2349	c.2341G>A	c.(2341-2343)GTA>ATA	p.V781I	SORCS1_uc001kyl.2_Missense_Mutation_p.V781I|SORCS1_uc009xxs.2_Missense_Mutation_p.V781I|SORCS1_uc001kyn.1_Missense_Mutation_p.V781I|SORCS1_uc001kyo.2_Missense_Mutation_p.V781I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	781	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493		NaN											0	0	0	1	0	32	95				
DCLRE1A	9937	broad.mit.edu	37	10	115607068	115607068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:115607068G>A	uc001law.2	-	3	3070	c.2152C>T	c.(2152-2154)CAG>TAG	p.Q718*		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	718					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACGCCATACTGAAAGGCATCA	0.378		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	1	0	47	53				
VWA2	340706	broad.mit.edu	37	10	116045895	116045895	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:116045895G>C	uc001lbl.1	+	11	1516	c.1195G>C	c.(1195-1197)GAG>CAG	p.E399Q	VWA2_uc001lbk.1_Missense_Mutation_p.E399Q|VWA2_uc009xyf.1_Missense_Mutation_p.E95Q	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	399	VWFA 2.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GCCTGTGGGGGAGTACCAGGA	0.682		NaN											0	0	0	1	0	67	136				
ATRNL1	26033	broad.mit.edu	37	10	117045884	117045884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:117045884G>A	uc001lcg.2	+	15	2778	c.2392G>A	c.(2392-2394)GAA>AAA	p.E798K		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	798	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTTCTGGATGAAATACAGAA	0.269		NaN											0	0	0	1	0	35	71				
ADAM12	8038	broad.mit.edu	37	10	127824155	127824155	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:127824155G>A	uc001ljk.2	-	5	836	c.423C>T	c.(421-423)CTC>CTT	p.L141L	ADAM12_uc010qul.1_Silent_p.L138L|ADAM12_uc001ljm.2_Silent_p.L141L|ADAM12_uc001ljn.2_Silent_p.L138L|ADAM12_uc001ljl.3_Silent_p.L138L	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	141					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCACTTACCTGAGACCAGAAC	0.512		NaN											0	0	0	1	0	32	67				
C10orf90	118611	broad.mit.edu	37	10	128192934	128192934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:128192934G>C	uc001ljq.2	-	3	956	c.835C>G	c.(835-837)CAA>GAA	p.Q279E	C10orf90_uc001ljp.2_Missense_Mutation_p.Q232E|C10orf90_uc010qum.1_Missense_Mutation_p.Q376E|C10orf90_uc009yao.2_Missense_Mutation_p.Q376E|C10orf90_uc001ljs.1_Missense_Mutation_p.Q232E	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	279										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGGCAATTTGAGGTGGCTCA	0.502		NaN									OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	76	144				
MKI67	4288	broad.mit.edu	37	10	129902126	129902126	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129902126C>G	uc001lke.2	-	13	8173	c.7978G>C	c.(7978-7980)GAA>CAA	p.E2660Q	MKI67_uc001lkf.2_Missense_Mutation_p.E2300Q|MKI67_uc009yav.1_Missense_Mutation_p.E2235Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1810Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2660	14.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGCTGGGTTCCTCTTCTACT	0.517		NaN											0	0	0	1	0	83	70				
MKI67	4288	broad.mit.edu	37	10	129906114	129906114	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129906114C>G	uc001lke.2	-	13	4185	c.3990G>C	c.(3988-3990)AAG>AAC	p.K1330N	MKI67_uc001lkf.2_Missense_Mutation_p.K970N|MKI67_uc009yav.1_Missense_Mutation_p.K905N|MKI67_uc009yaw.1_Missense_Mutation_p.K480N	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1330	16 X 122 AA approximate repeats.|3.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCCGTCTCTTGCTGCCGG	0.502		NaN											0	0	0	1	0	123	124				
KNDC1	85442	broad.mit.edu	37	10	135003134	135003134	+	Missense_Mutation	SNP	G	G	C	rs143362573		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:135003134G>C	uc001llz.1	+	8	1475	c.1474G>C	c.(1474-1476)GAG>CAG	p.E492Q	KNDC1_uc001lma.1_Missense_Mutation_p.E427Q	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	492	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTTGCTGAGGACGGGGC	0.672		NaN											0	0	0	1	0	31	25				
OR52I1	390037	broad.mit.edu	37	11	4615695	4615695	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:4615695C>G	uc010qyi.1	+	1	427	c.427C>G	c.(427-429)CAA>GAA	p.Q143E		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCACGCCTCAAGTGATGCT	0.507		NaN											0	0	0	1	0	53	10				
OR52A4	390053	broad.mit.edu	37	11	5142104	5142104	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:5142104C>T	uc001lzz.1	-	1	705	c.705G>A	c.(703-705)CTG>CTA	p.L235L		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTGCCTCTTTCAGAGGCAAGT	0.358		NaN											0	0	0	1	0	43	5				
IPO7	10527	broad.mit.edu	37	11	9455272	9455272	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:9455272C>G	uc001mho.2	+	18	2095	c.1953C>G	c.(1951-1953)TTC>TTG	p.F651L		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	651					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTAGAATTCTATGAGGAGA	0.383		NaN											0	0	0	1	0	59	6				
EIF3M	10480	broad.mit.edu	37	11	32610646	32610646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:32610646G>A	uc001mtu.2	+	4	446	c.403G>A	c.(403-405)GGG>AGG	p.G135R	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	135						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					AGCATCTTGTGGGGCCATCCA	0.383		NaN											0	0	0	1	0	33	80				
FBXO3	26273	broad.mit.edu	37	11	33763508	33763508	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:33763508C>G	uc001muz.2	-	11	1390	c.1362G>C	c.(1360-1362)CGG>CGC	p.R454R	FBXO3_uc010rej.1_Silent_p.R141R|FBXO3_uc001muy.2_Silent_p.R341R|FBXO3_uc009ykb.2_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	454	Poly-Arg.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGACTCTCCTCCGTCTCTCCT	0.368		NaN											0	0	0	1	0	58	11				
LRP4	4038	broad.mit.edu	37	11	46916251	46916251	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:46916251G>A	uc001ndn.3	-	12	1575	c.1429C>T	c.(1429-1431)CAC>TAC	p.H477Y		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	477	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCGCGGCGGTGGTGGAAATCA	0.582		NaN											0	0	0	1	0	81	9				
SLC43A1	8501	broad.mit.edu	37	11	57256845	57256845	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:57256845G>C	uc001nkk.2	-	12	1332	c.1214C>G	c.(1213-1215)TCC>TGC	p.S405C	SLC43A1_uc001nkl.2_Missense_Mutation_p.S405C	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	405					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						TGGTCTGATGGATTTGGTAGC	0.577		NaN											0	0	0	1	0	44	130				
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62159721G>C	uc001nte.3	+	7	1176	c.892G>C	c.(892-894)GAT>CAT	p.D298H	ASRGL1_uc001ntf.3_Missense_Mutation_p.D298H|ASRGL1_uc001ntg.3_Missense_Mutation_p.D170H	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527		NaN									OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	29	60				
INTS5	80789	broad.mit.edu	37	11	62414897	62414897	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62414897G>A	uc001nud.2	-	2	2708	c.2655C>T	c.(2653-2655)CTC>CTT	p.L885L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	885					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AATGGCCCAAGAGGGCGGCCA	0.642		NaN											0	0	0	1	0	32	72				
INTS5	80789	broad.mit.edu	37	11	62416485	62416485	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62416485G>C	uc001nud.2	-	2	1120	c.1067C>G	c.(1066-1068)TCT>TGT	p.S356C	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	356					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AAGCTCTCCAGAGACAGTGCC	0.607		NaN											0	0	0	1	0	43	96				
METTL12	751071	broad.mit.edu	37	11	62434355	62434355	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62434355G>T	uc001nug.1	+	3	814	c.555G>T	c.(553-555)TTG>TTT	p.L185F	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	185						mitochondrion	methyltransferase activity				0						CAGAATGCTTGAGGGTTCTAA	0.547		NaN											1	0	5.26018e-13	1	5.41022e-13	21	28				
FKBP2	2286	broad.mit.edu	37	11	64011466	64011466	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64011466G>C	uc001nyy.2	+	6	590	c.394G>C	c.(394-396)GAG>CAG	p.E132Q	FKBP2_uc010rnh.1_Missense_Mutation_p.E132Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E132Q	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	132	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						GTTCGAGGTGGAGCTGCTCAA	0.572		NaN											0	0	0	1	0	52	118				
GPR137	56834	broad.mit.edu	37	11	64054470	64054470	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64054470G>C	uc001nzg.1	+	3	699	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.E137Q|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.E189Q|GPR137_uc001nze.1_Missense_Mutation_p.E131Q|GPR137_uc001nzf.2_Missense_Mutation_p.E131Q|GPR137_uc001nzh.1_Missense_Mutation_p.E131Q|GPR137_uc001nzi.2_Missense_Mutation_p.E131Q|GPR137_uc010rnj.1_Missense_Mutation_p.E131Q	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	131	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GCGTCGGCCGGAGATGAGCCG	0.572		NaN											0	0	0	1	0	10	22				
ATG2A	23130	broad.mit.edu	37	11	64662883	64662883	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64662883G>T	uc001obx.2	-	40	5574	c.5459C>A	c.(5458-5460)TCC>TAC	p.S1820Y	uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.S585Y	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1820							protein binding			ovary(1)|central_nervous_system(1)	2						GGCTGCCGGGGACAGGATGTC	0.701		NaN											1	0	1.26484e-09	1	1.28796e-09	7	9				
PACS1	55690	broad.mit.edu	37	11	65961019	65961019	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:65961019C>G	uc001oha.1	+	2	553	c.419C>G	c.(418-420)TCA>TGA	p.S140*	PACS1_uc001ogz.1_Nonsense_Mutation_p.S140*	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	140					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GATCTTAACTCAGTGGTCATC	0.488		NaN											0	0	0	1	0	21	96				
GPR152	390212	broad.mit.edu	37	11	67220174	67220174	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67220174C>T	uc001olm.2	-	1	27	c.22G>A	c.(22-24)GAC>AAC	p.D8N	uc009yrw.1_Intron|CABP4_uc001oln.2_Intron|CABP4_uc001olo.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	8	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCACCCAGGTCAGCTTCCATG	0.602		NaN											0	0	0	1	0	59	36				
UNC93B1	81622	broad.mit.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67759316C>T	uc001omw.1	-	12	1575	c.1495G>A	c.(1495-1497)GTG>ATG	p.V499M		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	499	Helical; (Potential).				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome					0						ACCAGCAGCACCGCCAGCTTA	0.741		NaN											0	0	0	1	0	3	28				
SUV420H1	51111	broad.mit.edu	37	11	67957499	67957499	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67957499C>G	uc001onm.1	-	2	301	c.45G>C	c.(43-45)AGG>AGC	p.R15S	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R15S|SUV420H1_uc001onp.2_Missense_Mutation_p.R15S|SUV420H1_uc010rqa.1_Missense_Mutation_p.R15S|SUV420H1_uc001onq.2_Missense_Mutation_p.R15S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CTCCATTTCTCCTGCCATTCA	0.473		NaN											0	0	0	1	0	278	508				
CTTN	2017	broad.mit.edu	37	11	70265929	70265929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:70265929C>G	uc001opv.3	+	9	852	c.646C>G	c.(646-648)CAA>GAA	p.Q216E	CTTN_uc001opu.2_Missense_Mutation_p.Q216E|CTTN_uc001opw.3_Missense_Mutation_p.Q216E|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	216	Cortactin 4.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTTTGAGTATCAAGGCAAAAC	0.473		NaN											0	0	0	1	0	137	35				
RAB38	23682	broad.mit.edu	37	11	87908415	87908415	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:87908415G>C	uc001pcj.1	-	1	185	c.138C>G	c.(136-138)TTC>TTG	p.F46L	hsa-mir-3166|MI0014196_5'Flank	NM_022337	NP_071732	P57729	RAB38_HUMAN	RAB38	46	Effector region (By similarity).				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTTGAGCGCGAAGTCCACGC	0.637		NaN											0	0	0	1	0	32	9				
ATM	472	broad.mit.edu	37	11	108106537	108106537	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108106537G>C	uc001pkb.1	+	5	857	c.472G>C	c.(472-474)GAA>CAA	p.E158Q	ATM_uc009yxr.1_Missense_Mutation_p.E158Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	158					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATACTGGTGTGAAATATCTCA	0.363		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	1	0	64	21		Valid		
POU2AF1	5450	broad.mit.edu	37	11	111225125	111225125	+	Missense_Mutation	SNP	G	G	C	rs149278202		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111225125G>C	uc001plg.3	-	5	887	c.632C>G	c.(631-633)TCT>TGT	p.S211C		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	211					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTCTGGGATAGAGATGGGGAG	0.622		NaN	T	BCL6	NHL								0	0	0	1	0	35	12				
FDXACB1	91893	broad.mit.edu	37	11	111747287	111747287	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111747287G>C	uc001pmc.3	-	4	907	c.610C>G	c.(610-612)CAA>GAA	p.Q204E	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q55E|C11orf1_uc001pmd.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	204					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ATTCTGGGTTGAGAACCTTCA	0.413		NaN											0	0	0	1	0	52	19				
TTC36	143941	broad.mit.edu	37	11	118399332	118399332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:118399332C>G	uc001ptg.1	+	2	133	c.133C>G	c.(133-135)CAA>GAA	p.Q45E	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Intron|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	45							binding				0						AGTTTTCCCTCAAGCACAGCT	0.572		NaN											0	0	0	1	0	56	10				
GLB1L3	112937	broad.mit.edu	37	11	134183857	134183857	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:134183857C>T	uc009zdf.2	+	17	1962	c.1602C>T	c.(1600-1602)ATC>ATT	p.I534I	GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	534					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGTCAGCATCAATAACTCTT	0.483		NaN											0	0	0	1	0	27	6				
AKAP3	10566	broad.mit.edu	37	12	4724985	4724985	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:4724985C>T	uc001qnb.3	-	5	2711	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	828					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						CGCTCCTTCTCATAGCGCAGC	0.562		NaN											0	0	0	1	0	101	142				
KCNA5	3741	broad.mit.edu	37	12	5155043	5155043	+	Missense_Mutation	SNP	G	G	A	rs139805781	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:5155043G>A	uc001qni.2	+	1	1959	c.1730G>A	c.(1729-1731)CGA>CAA	p.R577Q		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	577						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACAGTGCCCGAAGGGGCAGC	0.642		NaN											0	0	0	1	0	25	33				
PHC1	1911	broad.mit.edu	37	12	9074235	9074235	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9074235C>G	uc001qvd.2	+	5	501	c.345C>G	c.(343-345)AGC>AGG	p.S115R	PHC1_uc001qvc.1_Missense_Mutation_p.S78R|PHC1_uc010sgn.1_Missense_Mutation_p.S115R|PHC1_uc001qve.2_Missense_Mutation_p.S115R	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	115					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						AGCTCATCAGCCGATCCCAGA	0.557		NaN											0	0	0	1	0	28	29				
PZP	5858	broad.mit.edu	37	12	9303317	9303317	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9303317G>A	uc001qvl.2	-	34	4336	c.4307C>T	c.(4306-4308)TCC>TTC	p.S1436F	PZP_uc009zgl.2_Missense_Mutation_p.S1222F	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AACCATGAAGGAAAAACTTAG	0.383		NaN											0	0	0	1	0	34	41				
PRR4	11272	broad.mit.edu	37	12	10999683	10999683	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:10999683G>A	uc001qyz.3	-	3	423	c.384C>T	c.(382-384)CCC>CCT	p.P128P	PRR4_uc009zhp.2_Silent_p.P141P|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA	NM_007244	NP_009175	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal) isoform 2	128					visual perception	extracellular space					0						GTTGCTCCTGGGGATGTCTTG	0.463		NaN											0	0	0	1	0	70	82				
TAS2R50	259296	broad.mit.edu	37	12	11138715	11138715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:11138715C>T	uc001qzl.2	-	1	797	c.745G>A	c.(745-747)GTT>ATT	p.V249I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	249	Helical; Name=6; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						GGACTCCAAACCGAAACGATT	0.438		NaN											0	0	0	1	0	40	58				
CDKN1B	1027	broad.mit.edu	37	12	12870793	12870793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12870793C>G	uc001rat.2	+	1	492	c.20C>G	c.(19-21)TCT>TGT	p.S7C		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	7					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GTGCGAGTGTCTAACGGGAGC	0.612		NaN							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				0	0	0	1	0	61	85				
CDKN1B	1027	broad.mit.edu	37	12	12871765	12871765	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12871765C>G	uc001rat.2	+	2	954	c.482C>G	c.(481-483)TCT>TGT	p.S161C		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	161	Nuclear localization signal (Potential).			S->A: No change in PKB/AKT1-mediated phosphorylation.	autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTAGATTCTTCTACTCAAAAC	0.438		NaN							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				0	0	0	1	0	77	95				
SOX5	6660	broad.mit.edu	37	12	23728769	23728769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23728769C>T	uc001rfw.2	-	10	1270	c.1168G>A	c.(1168-1170)GAA>AAA	p.E390K	SOX5_uc001rfx.2_Missense_Mutation_p.E377K|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.E4K|SOX5_uc010siv.1_Missense_Mutation_p.E377K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E342K	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	390					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGTGCCACTTCATCCTGCAAT	0.443		NaN											0	0	0	1	0	40	52				
SOX5	6660	broad.mit.edu	37	12	23998926	23998926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23998926C>G	uc001rfw.2	-	3	574	c.472G>C	c.(472-474)GAG>CAG	p.E158Q	SOX5_uc001rfx.2_Missense_Mutation_p.E145Q|SOX5_uc001rfy.2_Missense_Mutation_p.E145Q|SOX5_uc010siv.1_Missense_Mutation_p.E145Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E110Q|SOX5_uc001rga.2_Missense_Mutation_p.E123Q	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	158					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CCTTCCGGCTCGTTTTTGATG	0.408		NaN											0	0	0	1	0	32	62				
PRPF40B	25766	broad.mit.edu	37	12	50029643	50029643	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:50029643C>T	uc001rur.1	+	14	1291	c.1227C>T	c.(1225-1227)CTC>CTT	p.L409L	PRPF40B_uc001rup.1_Silent_p.L431L|PRPF40B_uc001ruq.1_Silent_p.L403L|PRPF40B_uc001rus.1_Silent_p.L352L	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	409					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CCAAGCAGCTCCGGCGCCGCA	0.602		NaN											0	0	0	1	0	43	44				
SCN8A	6334	broad.mit.edu	37	12	52100287	52100287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:52100287C>T	uc001ryw.2	+	11	1601	c.1423C>T	c.(1423-1425)CGG>TGG	p.R475W	SCN8A_uc010snl.1_Missense_Mutation_p.R340W|SCN8A_uc001ryx.1_Missense_Mutation_p.R340W|SCN8A_uc001ryz.1_Missense_Mutation_p.R340W|SCN8A_uc001ryy.2_Missense_Mutation_p.R340W	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	475					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGCTCCCCTCGGAGCTCTTC	0.502		NaN											0	0	0	1	0	12	10				
EIF4B	1975	broad.mit.edu	37	12	53412671	53412671	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:53412671C>A	uc001sbh.3	+	3	447	c.241C>A	c.(241-243)CGG>AGG	p.R81R	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.R81R|EIF4B_uc010snv.1_Silent_p.R81R|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	81					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						ACGGGCTGCTCGGGAACCCAA	0.512		NaN											1	0	6.09941e-20	1	6.34794e-20	52	113				
SMARCC2	6601	broad.mit.edu	37	12	56575311	56575311	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56575311G>C	uc001skb.2	-	10	1017	c.911C>G	c.(910-912)TCT>TGT	p.S304C	SMARCC2_uc001skd.2_Missense_Mutation_p.S304C|SMARCC2_uc001ska.2_Missense_Mutation_p.S304C|SMARCC2_uc001skc.2_Missense_Mutation_p.S304C|SMARCC2_uc010sqf.1_Missense_Mutation_p.S193C	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	304					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGTGAAGGAGAGGGGGAGCG	0.507		NaN											0	0	0	1	0	29	45		Valid		
BAZ2A	11176	broad.mit.edu	37	12	56996518	56996518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56996518C>A	uc001slq.1	-	19	3603	c.3409G>T	c.(3409-3411)GAA>TAA	p.E1137*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.E1135*|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_Nonsense_Mutation_p.E107*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.E1105*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1137					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TCTGTTCCTTCTACAAAGATA	0.493		NaN											1	0	3.6726e-16	1	3.79647e-16	20	33				
SRGAP1	57522	broad.mit.edu	37	12	64472798	64472798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:64472798G>C	uc010ssp.1	+	9	1281	c.1225G>C	c.(1225-1227)GAA>CAA	p.E409Q	SRGAP1_uc001srt.2_Missense_Mutation_p.E409Q|SRGAP1_uc001srv.2_Missense_Mutation_p.E369Q	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	409					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCGTTCCACAGAATCAGTGAA	0.468		NaN											0	0	0	1	0	37	44				
ZDHHC17	23390	broad.mit.edu	37	12	77239552	77239552	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:77239552C>T	uc001syk.1	+	13	1556	c.1393C>T	c.(1393-1395)CAT>TAT	p.H465Y		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	465	Cytoplasmic (Potential).|DHHC-type.				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						AAAATTTGATCATCATTGCCC	0.348		NaN											0	0	0	1	0	102	113				
SLC6A15	55117	broad.mit.edu	37	12	85285836	85285836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:85285836C>G	uc001szv.2	-	2	557	c.64G>C	c.(64-66)GAC>CAC	p.D22H	SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.D22H	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	22	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						GAAAGAAGGTCTTTGACAGAC	0.353		NaN											0	0	0	1	0	79	113				
AMDHD1	144193	broad.mit.edu	37	12	96354209	96354209	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:96354209C>T	uc001tel.1	+	5	727	c.621C>T	c.(619-621)ATC>ATT	p.I207I	AMDHD1_uc009zth.1_Silent_p.I98I	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	207					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1						CTGATGACATCATCAATAACC	0.403		NaN											0	0	0	1	0	17	38				
TXNRD1	7296	broad.mit.edu	37	12	104609593	104609593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:104609593G>A	uc010swk.1	+	1	35	c.13G>A	c.(13-15)GAG>AAG	p.E5K	TXNRD1_uc001tkm.1_Intron	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	5					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						GGGCTGCGCCGAGGGCAAGGC	0.721		NaN									OREG0022069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	3	2				
NUAK1	9891	broad.mit.edu	37	12	106461446	106461446	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:106461446C>G	uc001tlj.1	-	7	2500	c.1120G>C	c.(1120-1122)GAG>CAG	p.E374Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	374							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						AAGTCATTCTCTTTCTTGGAT	0.542		NaN											0	0	0	1	0	42	58				
ATXN2	6311	broad.mit.edu	37	12	111926344	111926344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:111926344G>C	uc001tsj.2	-	15	2818	c.2656C>G	c.(2656-2658)CAG>GAG	p.Q886E	ATXN2_uc001tsh.2_Missense_Mutation_p.Q621E|ATXN2_uc001tsi.2_Missense_Mutation_p.Q597E|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.Q72E	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	886					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CTGGAAGTCTGAACCCCTTGG	0.498		NaN											0	0	0	1	0	33	64				
NAA25	80018	broad.mit.edu	37	12	112530905	112530905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:112530905G>A	uc001ttm.2	-	2	114	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Q4*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Q32*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	32	TPR 1.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TCTGCTTGCTGAATTGCCATT	0.308		NaN											0	0	0	1	0	54	70				
TBX5	6910	broad.mit.edu	37	12	114793425	114793425	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:114793425G>C	uc001tvo.2	-	9	1964	c.1469C>G	c.(1468-1470)TCT>TGT	p.S490C	TBX5_uc001tvp.2_Missense_Mutation_p.S490C|TBX5_uc001tvq.2_Missense_Mutation_p.S440C	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	490					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CACGCCATGAGAGTAGAGGAA	0.612		NaN											0	0	0	1	0	20	48				
FBXO21	23014	broad.mit.edu	37	12	117583954	117583954	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:117583954C>G	uc001twk.2	-	12	1864	c.1825G>C	c.(1825-1827)GAG>CAG	p.E609Q	FBXO21_uc001twj.2_Missense_Mutation_p.E602Q|FBXO21_uc009zwq.2_Missense_Mutation_p.E542Q	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	609					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TAGACAAACTCCAGATCTTCT	0.453		NaN											0	0	0	1	0	48	86				
GCN1L1	10985	broad.mit.edu	37	12	120575576	120575576	+	Missense_Mutation	SNP	C	C	T	rs146550123	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:120575576C>T	uc001txo.2	-	49	6449	c.6436G>A	c.(6436-6438)GAC>AAC	p.D2146N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2146					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCCTGTGTCATCCTCTACG	0.582		NaN											0	0	0	1	0	23	21				
HNF1A	6927	broad.mit.edu	37	12	121426650	121426650	+	Missense_Mutation	SNP	G	G	A	rs139016696	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:121426650G>A	uc001tzg.2	+	2	364	c.341G>A	c.(340-342)CGT>CAT	p.R114H	HNF1A_uc001tze.1_Missense_Mutation_p.R114H|HNF1A_uc001tzf.2_Missense_Mutation_p.R114H|HNF1A_uc010szn.1_Missense_Mutation_p.R114H	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	114					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCGTGGCGTGTGGCGAAG	0.627		NaN							Hepatic_Adenoma_Familial_Clustering_of				0	0	0	1	0	29	42				
SBNO1	55206	broad.mit.edu	37	12	123798237	123798237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:123798237C>G	uc010tap.1	-	23	3150	c.3150G>C	c.(3148-3150)ATG>ATC	p.M1050I	SBNO1_uc010tao.1_Missense_Mutation_p.M1049I|SBNO1_uc010taq.1_Missense_Mutation_p.M1I|SBNO1_uc001ues.1_Missense_Mutation_p.M1I	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1050							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATGGATTTCATGACAATTT	0.333		NaN											0	0	0	1	0	17	19				
DNAH10	196385	broad.mit.edu	37	12	124398990	124398990	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:124398990C>T	uc001uft.3	+	60	10138	c.10113C>T	c.(10111-10113)GAC>GAT	p.D3371D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3371					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTTCCGTGACGAGATGGTCA	0.597		NaN											0	0	0	1	0	48	55				
RIMBP2	23504	broad.mit.edu	37	12	130926567	130926567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:130926567C>A	uc001uil.2	-	8	1443	c.1279G>T	c.(1279-1281)GAG>TAG	p.E427*	RIMBP2_uc001uim.2_Nonsense_Mutation_p.E335*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.E86*	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	427	Fibronectin type-III 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGAACTCCTCCTCGTTGAGG	0.572		NaN											1	0	2.66076e-39	1	2.8366e-39	57	67				
MPHOSPH8	54737	broad.mit.edu	37	13	20222578	20222578	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:20222578G>C	uc001umh.2	+	4	1244	c.1235G>C	c.(1234-1236)AGA>ACA	p.R412T	MPHOSPH8_uc001umg.2_Missense_Mutation_p.R412T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R109T	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	412					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAACCAAAAGAAATGAATCC	0.318		NaN											0	0	0	1	0	6	10				
SLC7A1	6541	broad.mit.edu	37	13	30091761	30091761	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:30091761C>G	uc001uso.2	-	10	1846	c.1459G>C	c.(1459-1461)GAG>CAG	p.E487Q		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	487	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGGAAGGCTCCATGTTTTTG	0.463		NaN											0	0	0	1	0	82	79				
C13orf36	400120	broad.mit.edu	37	13	37269507	37269507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:37269507C>T	uc001uvt.3	+	2	738	c.292C>T	c.(292-294)CAG>TAG	p.Q98*		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	98						integral to membrane				skin(1)	1						CATTTCCTCTCAGAGGTCCAC	0.483		NaN											0	0	0	1	0	35	37				
FREM2	341640	broad.mit.edu	37	13	39432167	39432167	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:39432167C>G	uc001uwv.2	+	13	7521	c.7212C>G	c.(7210-7212)ATC>ATG	p.I2404M	FREM2_uc001uww.2_Missense_Mutation_p.I490M	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2404	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCATCTGTATCACAGTGAGTA	0.353		NaN											0	0	0	1	0	43	88				
RB1	5925	broad.mit.edu	37	13	49050910	49050910	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:49050910G>T	uc001vcb.2	+	25	2760	c.2594G>T	c.(2593-2595)GGA>GTA	p.G865V		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	865	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTGCTGAAGGAAGCAACCCT	0.383		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			1	0	6.81593e-30	1	7.21618e-30	46	78		Valid		
MYCBP2	23077	broad.mit.edu	37	13	77642919	77642919	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:77642919G>C	uc001vkf.2	-	71	11929	c.11838C>G	c.(11836-11838)GTC>GTG	p.V3946V	MYCBP2_uc010aev.2_Silent_p.V3350V|MYCBP2_uc001vke.2_Silent_p.V563V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTCTTCACGGACTCTGGTAG	0.398		NaN											0	0	0	1	0	59	56				
EDNRB	1910	broad.mit.edu	37	13	78474013	78474013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:78474013C>G	uc001vko.2	-	6	1433	c.1175G>C	c.(1174-1176)AGA>ACA	p.R392T	EDNRB_uc001vkq.1_Missense_Mutation_p.R392T|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.R392T|EDNRB_uc001vkp.1_Missense_Mutation_p.R475T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	392	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTTTTTGAATCTTTTGCTCAC	0.338		NaN											0	0	0	1	0	39	36				
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:88328479C>G	uc001vln.2	+	2	1055	c.836C>G	c.(835-837)TCC>TGC	p.S279C	SLITRK5_uc010tic.1_Missense_Mutation_p.S38C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	279	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542		NaN											0	0	0	1	0	32	77				
TEP1	7011	broad.mit.edu	37	14	20876254	20876254	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:20876254G>A	uc001vxe.2	-	2	385	c.345C>T	c.(343-345)CTC>CTT	p.L115L	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L115L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	115	TEP1 N-terminal 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTAGACTAGAGAGGGTGGCCA	0.512		NaN											0	0	0	1	0	67	110				
SUPT16H	11198	broad.mit.edu	37	14	21822642	21822642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:21822642C>G	uc001wao.2	-	23	3057	c.2718G>C	c.(2716-2718)ATG>ATC	p.M906I	SUPT16H_uc001wan.2_Missense_Mutation_p.M50I	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	906					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAATGGTCTTCATGATTTTAG	0.463		NaN											0	0	0	1	0	46	58				
CMTM5	116173	broad.mit.edu	37	14	23847933	23847933	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:23847933C>T	uc010akm.2	+	3	779	c.335C>T	c.(334-336)TCA>TTA	p.S112L	CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	112	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTCTCCCACTCAGCAAAGGTC	0.632		NaN											0	0	0	1	0	33	59				
CTSG	1511	broad.mit.edu	37	14	25044531	25044531	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:25044531C>G	uc001wpq.2	-	2	180	c.143G>C	c.(142-144)AGA>ACA	p.R48T		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	48	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CCCTCCACATCTGCTCTGACC	0.592		NaN											0	0	0	1	0	114	136				
BAZ1A	11177	broad.mit.edu	37	14	35227966	35227966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:35227966C>G	uc001wsk.2	-	25	4898	c.4330G>C	c.(4330-4332)GAA>CAA	p.E1444Q	BAZ1A_uc001wsl.2_Missense_Mutation_p.E1412Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1444					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CGTACCAATTCTACAACAAGT	0.393		NaN											0	0	0	1	0	41	74				
DLGAP5	9787	broad.mit.edu	37	14	55642131	55642131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:55642131C>T	uc001xbs.2	-	10	1451	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	DLGAP5_uc001xbt.2_Missense_Mutation_p.E412K	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	412					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						GATGGGACTTCTTTTATTGGA	0.313		NaN											0	0	0	1	0	21	16				
C14orf105	55195	broad.mit.edu	37	14	57947337	57947337	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:57947337C>T	uc001xcy.2	-	5	774	c.631G>A	c.(631-633)GAT>AAT	p.D211N	C14orf105_uc010trl.1_Missense_Mutation_p.D210N|C14orf105_uc010trm.1_Missense_Mutation_p.D122N|C14orf105_uc010trn.1_Missense_Mutation_p.D122N|C14orf105_uc001xcz.2_Missense_Mutation_p.D210N|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.D132N	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	211											0						AAGATTTCATCAGGCAACATG	0.393		NaN											0	0	0	1	0	59	89				
SYNE2	23224	broad.mit.edu	37	14	64522742	64522742	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64522742C>T	uc001xgm.2	+	49	10055	c.9825C>T	c.(9823-9825)CTC>CTT	p.L3275L	SYNE2_uc001xgl.2_Silent_p.L3275L|SYNE2_uc010apw.1_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3275	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCACTTCCCTCGAAGCCATCA	0.408		NaN											0	0	0	1	0	44	53				
SYNE2	23224	broad.mit.edu	37	14	64593421	64593421	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64593421G>C	uc001xgm.2	+	73	14043	c.13813G>C	c.(13813-13815)GAA>CAA	p.E4605Q	SYNE2_uc001xgl.2_Missense_Mutation_p.E4605Q|SYNE2_uc010apy.2_Missense_Mutation_p.E990Q|SYNE2_uc010apz.1_Missense_Mutation_p.E497Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4605	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGCTCCTTGAATGTTTTGA	0.478		NaN											0	0	0	1	0	55	59				
SIPA1L1	26037	broad.mit.edu	37	14	72176165	72176165	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:72176165C>G	uc001xms.2	+	15	4403	c.4055C>G	c.(4054-4056)TCA>TGA	p.S1352*	SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.S1352*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.S806*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.S117*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1352	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCACCTCGCTCAGGGCCAGGC	0.612		NaN											0	0	0	1	0	32	50				
PAPLN	89932	broad.mit.edu	37	14	73727502	73727502	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:73727502G>A	uc010ttx.1	+	16	2234	c.2071G>A	c.(2071-2073)GGG>AGG	p.G691R	PAPLN_uc001xnw.3_Missense_Mutation_p.G664R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G691R|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	691						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGACAGCACCGGGGGCATGCC	0.637		NaN											0	0	0	1	0	26	19				
TGFB3	7043	broad.mit.edu	37	14	76427367	76427367	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:76427367C>G	uc001xsc.2	-	6	1835	c.979G>C	c.(979-981)GAT>CAT	p.D327H		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	327					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGCCCAGATCCTGTCGGAAG	0.488		NaN											0	0	0	1	0	54	85				
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:91123528G>C	uc001xyp.2	-	11	1453	c.1331C>G	c.(1330-1332)TCC>TGC	p.S444C	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444							binding			ovary(2)	2		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622		NaN											0	0	0	1	0	44	76				
ATP10A	57194	broad.mit.edu	37	15	25981266	25981266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:25981266G>A	uc010ayu.2	-	3	783	c.677C>T	c.(676-678)ACG>ATG	p.T226M		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	226	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGTGAACGTCAAAGGATT	0.507		NaN											0	0	0	1	0	24	43				
GABRG3	2567	broad.mit.edu	37	15	27772741	27772741	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:27772741G>A	uc001zbg.1	+	8	1194	c.1028G>A	c.(1027-1029)TGT>TAT	p.C343Y		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	343	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TATTCCAGCTGTAGAAAACCA	0.522		NaN											0	0	0	1	0	11	15				
RAD51	5888	broad.mit.edu	37	15	41023291	41023291	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41023291G>A	uc001zmi.3	+	10	1234	c.935G>A	c.(934-936)TGC>TAC	p.C312Y	RAD51_uc010bbw.2_Silent_p.L271L|RAD51_uc010bbx.2_Missense_Mutation_p.C313Y|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.C313Y	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	312					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ACCAGAATCTGCAAAATCTAC	0.423		NaN						Homologous_recombination					0	0	0	1	0	50	66				
VPS18	57617	broad.mit.edu	37	15	41192994	41192994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41192994G>A	uc001zne.2	+	4	2317	c.1978G>A	c.(1978-1980)GAG>AAG	p.E660K		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	660	Clathrin.				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGAGACTGAGCAGGCCAT	0.637		NaN											0	0	0	1	0	94	105				
FBN1	2200	broad.mit.edu	37	15	48741027	48741027	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:48741027C>T	uc001zwx.1	-	46	5937	c.5609G>A	c.(5608-5610)GGA>GAA	p.G1870E	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1870	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAAAGCTTCCAACTGTGTC	0.353		NaN											0	0	0	1	0	31	36				
LEO1	123169	broad.mit.edu	37	15	52258162	52258162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:52258162C>T	uc002abo.2	-	2	614	c.598G>A	c.(598-600)GAG>AAG	p.E200K	LEO1_uc010bfd.2_Missense_Mutation_p.E200K	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	200	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TGTTGTCTCTCATCATCGGAA	0.438		NaN											0	0	0	1	0	150	193				
TLN2	83660	broad.mit.edu	37	15	63008574	63008574	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:63008574G>C	uc002alb.3	+	20	2679	c.2679G>C	c.(2677-2679)CTG>CTC	p.L893L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	893	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGCAAAGGCTGAGAGAAGCTG	0.502		NaN											0	0	0	1	0	35	48				
HCN4	10021	broad.mit.edu	37	15	73615897	73615897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:73615897G>A	uc002avp.2	-	8	3531	c.2537C>T	c.(2536-2538)CCG>CTG	p.P846L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	846	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CACCTGGGACGGGCTGCTGGC	0.672		NaN											0	0	0	1	0	54	84				
C15orf39	56905	broad.mit.edu	37	15	75498861	75498861	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75498861G>C	uc002azp.3	+	2	792	c.472G>C	c.(472-474)GAC>CAC	p.D158H	C15orf39_uc002azq.3_Missense_Mutation_p.D158H|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	158											0						ACTGGATGTTGACTGGACTCT	0.612		NaN											0	0	0	1	0	42	71				
NEIL1	79661	broad.mit.edu	37	15	75641328	75641328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75641328G>T	uc002bad.2	+	2	588	c.82G>T	c.(82-84)GAG>TAG	p.E28*	NEIL1_uc002bae.2_Nonsense_Mutation_p.E114*	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	28					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						CGGCTGCGTGGAGAAGTCCTC	0.647		NaN						BER_DNA_glycosylases					1	0	1.74807e-11	1	1.78893e-11	29	60				
SEC11A	23478	broad.mit.edu	37	15	85259297	85259297	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:85259297G>C	uc002blb.1	-	1	378	c.10C>G	c.(10-12)CTA>GTA	p.L4V	SEC11A_uc002blc.1_5'UTR	NM_014300	NP_055115	P67812	SC11A_HUMAN	SEC11-like 1	4	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			AAAAAGTCTAGAGACAGCATG	0.622		NaN											0	0	0	1	0	21	23				
AGBL1	123624	broad.mit.edu	37	15	86807733	86807733	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:86807733C>G	uc002blz.1	+	10	1273	c.1193C>G	c.(1192-1194)TCC>TGC	p.S398C	AGBL1_uc002bma.1_Missense_Mutation_p.S129C|AGBL1_uc002bmb.1_Missense_Mutation_p.S92C	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	398					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						AATGTGCAATCCAATAGTCTC	0.488		NaN											0	0	0	1	0	17	42				
BLM	641	broad.mit.edu	37	15	91341444	91341444	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:91341444G>A	uc002bpr.2	+	17	3332	c.3235G>A	c.(3235-3237)GAC>AAC	p.D1079N	BLM_uc010uqh.1_Missense_Mutation_p.D1079N|BLM_uc010uqi.1_Missense_Mutation_p.D704N|BLM_uc010bnx.2_Missense_Mutation_p.D1079N|BLM_uc002bpt.2_Missense_Mutation_p.D54N	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1079					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGTGACTGACGATGTGAA	0.294		NaN	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				0	0	0	1	0	32	32				
IGF1R	3480	broad.mit.edu	37	15	99467847	99467847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:99467847C>T	uc002bul.2	+	13	2766	c.2716C>T	c.(2716-2718)CAG>TAG	p.Q906*	IGF1R_uc010bon.2_Nonsense_Mutation_p.Q906*|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	906	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGCCCGGATTCAGGCCACATC	0.527		NaN											0	0	0	1	0	36	81				
GNPTG	84572	broad.mit.edu	37	16	1412126	1412126	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:1412126G>A	uc002clm.2	+	6	440	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	135						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				GGAGCCGGCAGAGCAAGGTGG	0.667		NaN											0	0	0	1	0	8	0				
TSC2	7249	broad.mit.edu	37	16	2110794	2110794	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2110794C>T	uc002con.2	+	11	1205	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	TSC2_uc010bsd.2_Missense_Mutation_p.R367W|TSC2_uc002coo.2_Missense_Mutation_p.R367W|TSC2_uc010uvv.1_Missense_Mutation_p.R330W|TSC2_uc010uvw.1_Missense_Mutation_p.R318W|TSC2_uc002cop.2_Missense_Mutation_p.R167W	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	367	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CATCATCGAACGGCTCCTTCA	0.602		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	1	0	47	8				
CEMP1	752014	broad.mit.edu	37	16	2580759	2580759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2580759G>A	uc002cqr.2	-	1	672	c.316C>T	c.(316-318)CAG>TAG	p.Q106*	AMDHD2_uc010uwc.1_Silent_p.*595*|AMDHD2_uc010uwd.1_Silent_p.*359*	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	106						cytoplasm				skin(1)	1						GGCCTCGCCTGAGGGAGGGCC	0.632		NaN											0	0	0	1	0	17	4				
SRRM2	23524	broad.mit.edu	37	16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2814872G>C	uc002crk.2	+	11	4892	c.4343G>C	c.(4342-4344)AGA>ACA	p.R1448T	SRRM2_uc002crj.1_Missense_Mutation_p.R1352T|SRRM2_uc002crl.1_Missense_Mutation_p.R1448T|SRRM2_uc010bsu.1_Missense_Mutation_p.R1352T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1448	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCAGGACTTAGAGATGGGTCT	0.493		NaN											0	0	0	1	0	86	22				
SRRM2	23524	broad.mit.edu	37	16	2815072	2815072	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2815072G>C	uc002crk.2	+	11	5092	c.4543G>C	c.(4543-4545)GAA>CAA	p.E1515Q	SRRM2_uc002crj.1_Missense_Mutation_p.E1419Q|SRRM2_uc002crl.1_Missense_Mutation_p.E1515Q|SRRM2_uc010bsu.1_Missense_Mutation_p.E1419Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1515	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCCCAGAGAGAAAGAAGCGG	0.522		NaN											0	0	0	1	0	135	37				
ADCY9	115	broad.mit.edu	37	16	4016668	4016668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4016668C>G	uc002cvx.2	-	11	3709	c.3170G>C	c.(3169-3171)GGA>GCA	p.G1057A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1057	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GATCACCCCTCCGCTGTCATG	0.592		NaN											0	0	0	1	0	156	35				
HMOX2	3163	broad.mit.edu	37	16	4556895	4556895	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4556895G>A	uc010bts.2	+	3	258	c.87_splice	c.e3-1	p.R29_splice	HMOX2_uc002cwr.3_Splice_Site_p.R29_splice|HMOX2_uc002cwq.3_Splice_Site_p.R29_splice|HMOX2_uc002cws.3_Splice_Site_p.R83_splice|HMOX2_uc010btt.2_Splice_Site_p.R29_splice|HMOX2_uc002cwt.2_Splice_Site_p.R29_splice	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2						cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)	TCTCTCCACAGAATGGCTGAC	0.517		NaN									OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	112	30				
DNAH3	55567	broad.mit.edu	37	16	21136611	21136611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21136611G>C	uc010vbe.1	-	9	1289	c.1289C>G	c.(1288-1290)TCA>TGA	p.S430*	DNAH3_uc002die.2_Nonsense_Mutation_p.S401*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	430	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTTTCGACTTGAGTCATAGTT	0.483		NaN											0	0	0	1	0	63	21				
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21172532C>G	uc002dif.3	+	2	390	c.29C>G	c.(28-30)TCA>TGA	p.S10*	DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Nonsense_Mutation_p.S10*|TMEM159_uc002dih.3_Nonsense_Mutation_p.S10*	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.438		NaN											0	0	0	1	0	29	9				
CLN3	1201	broad.mit.edu	37	16	28493700	28493700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28493700C>G	uc002dpo.2	-	12	1233	c.910G>C	c.(910-912)GAA>CAA	p.E304Q	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.E226Q|CLN3_uc010vcu.1_Missense_Mutation_p.E204Q|CLN3_uc002dpn.2_Missense_Mutation_p.E205Q|CLN3_uc002dpm.2_Missense_Mutation_p.E250Q|CLN3_uc010vcv.1_Missense_Mutation_p.E280Q|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.E304Q|CLN3_uc002dpt.1_Missense_Mutation_p.E204Q|CLN3_uc002dpq.1_Missense_Mutation_p.E256Q|CLN3_uc010bye.1_Missense_Mutation_p.E287Q|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.E177Q|CLN3_uc002dpu.1_Missense_Mutation_p.E202Q|CLN3_uc002dpw.1_Missense_Mutation_p.E151Q|CLN3_uc010vcw.1_Missense_Mutation_p.E250Q|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	304					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						AAGAGGAGTTCAAACTGCAAC	0.592		NaN											0	0	0	1	0	27	39				
CD19	930	broad.mit.edu	37	16	28948444	28948444	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28948444C>T	uc002drs.2	+	8	1247	c.1185C>T	c.(1183-1185)AGC>AGT	p.S395S	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S395S	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	395	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GGTCCCGGAGCCCGCCGGGAG	0.692		NaN											0	0	0	1	0	4	6				
RNF40	9810	broad.mit.edu	37	16	30777495	30777495	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:30777495G>A	uc002dzq.2	+	9	1128	c.1005G>A	c.(1003-1005)CTG>CTA	p.L335L	RNF40_uc010caa.2_Silent_p.L335L|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L335L|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	335	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TTGAGATGCTGAATGCAGAGT	0.592		NaN											0	0	0	1	0	53	88				
MYLK3	91807	broad.mit.edu	37	16	46764544	46764544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:46764544G>C	uc002eei.3	-	5	1645	c.1529C>G	c.(1528-1530)TCT>TGT	p.S510C	MYLK3_uc010vge.1_Missense_Mutation_p.S169C|MYLK3_uc002eej.1_Missense_Mutation_p.S169C	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	510					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTAACCCGCAGAGATGGAGGT	0.612		NaN											0	0	0	1	0	72	126				
NUP93	9688	broad.mit.edu	37	16	56857669	56857669	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56857669G>A	uc002eka.2	+	8	826	c.705G>A	c.(703-705)TTG>TTA	p.L235L	NUP93_uc002ekb.2_Silent_p.L112L|NUP93_uc010vhi.1_Silent_p.L112L	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	235					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						ACGTGTTGTTGACACCGGCAA	0.517		NaN											0	0	0	1	0	77	85				
SLC12A3	6559	broad.mit.edu	37	16	56899426	56899426	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56899426C>G	uc010ccm.2	+	1	308	c.279C>G	c.(277-279)CTC>CTG	p.L93L	SLC12A3_uc002ekd.3_Silent_p.L93L|SLC12A3_uc010ccn.2_Silent_p.L93L	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	93	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACTCCTTCCTCAAGGTAAGTG	0.373		NaN											0	0	0	1	0	32	38				
FBXL8	55336	broad.mit.edu	37	16	67195736	67195736	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67195736C>T	uc002erj.1	+	2	168	c.48C>T	c.(46-48)ATC>ATT	p.I16I	TRADD_uc002eri.1_5'Flank|TRADD_uc010vjb.1_5'Flank|FBXL8_uc002erk.1_Silent_p.I16I|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	16	F-box.						protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TGGCACTCATCTTCCGCCACC	0.682		NaN											0	0	0	1	0	13	17				
FBXL8	55336	broad.mit.edu	37	16	67196840	67196840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67196840C>T	uc002erj.1	+	3	362	c.242C>T	c.(241-243)TCG>TTG	p.S81L	FBXL8_uc002erk.1_Missense_Mutation_p.S81L|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	81							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TTTGAGCCATCGAGGAAGCCG	0.632		NaN											0	0	0	1	0	3	2				
E2F4	1874	broad.mit.edu	37	16	67228652	67228652	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67228652C>G	uc002erz.2	+	6	640	c.577C>G	c.(577-579)CTG>GTG	p.L193V		NM_001950	NP_001941	Q16254	E2F4_HUMAN	E2F transcription factor 4	193					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CATTGAGGTTCTGCTGGTGAA	0.542		NaN											0	0	0	1	0	63	58				
FAM65A	79567	broad.mit.edu	37	16	67575861	67575861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67575861C>G	uc010vjp.1	+	13	1328	c.1232C>G	c.(1231-1233)TCA>TGA	p.S411*	FAM65A_uc010cei.1_Nonsense_Mutation_p.S233*|FAM65A_uc002eth.2_Nonsense_Mutation_p.S391*|FAM65A_uc010cej.2_Nonsense_Mutation_p.S394*|FAM65A_uc002eti.1_Nonsense_Mutation_p.S354*|FAM65A_uc010vjq.1_Nonsense_Mutation_p.S405*|FAM65A_uc002etj.1_Nonsense_Mutation_p.S390*|FAM65A_uc002etk.2_Nonsense_Mutation_p.S390*	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	395						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCACAGCTCTCAGGCACTGCC	0.622		NaN											0	0	0	1	0	44	71				
SLC12A4	6560	broad.mit.edu	37	16	67985897	67985897	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67985897C>T	uc002euz.2	-	8	1102	c.961G>A	c.(961-963)GAC>AAC	p.D321N	SLC12A4_uc010ceu.2_Missense_Mutation_p.D315N|SLC12A4_uc010vkh.1_Missense_Mutation_p.D290N|SLC12A4_uc010vki.1_Missense_Mutation_p.D321N|SLC12A4_uc010vkj.1_Missense_Mutation_p.D323N|SLC12A4_uc002eva.2_Missense_Mutation_p.D321N|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	321					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACAGATGTCAAACTGGTCC	0.587		NaN											0	0	0	1	0	27	44				
SLC7A6OS	84138	broad.mit.edu	37	16	68344264	68344264	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68344264C>G	uc002evw.1	-	2	464	c.445G>C	c.(445-447)GAA>CAA	p.E149Q	PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	149					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GAGGCGGCTTCAGGTTCTCCC	0.612		NaN											0	0	0	1	0	23	19				
PRMT7	54496	broad.mit.edu	37	16	68380131	68380131	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68380131G>C	uc002evy.1	+	11	1415	c.1139G>C	c.(1138-1140)GGA>GCA	p.G380A	PRMT7_uc002evx.1_Missense_Mutation_p.G380A|PRMT7_uc010vlg.1_Missense_Mutation_p.G330A|PRMT7_uc002evz.1_Missense_Mutation_p.G226A	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	380					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCTCGGTTTGGAGAGATCAAT	0.562		NaN											0	0	0	1	0	49	63				
CDH3	1001	broad.mit.edu	37	16	68721629	68721629	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68721629C>T	uc002ewf.2	+	12	2917	c.1785C>T	c.(1783-1785)GTC>GTT	p.V595V	CDH3_uc010vli.1_Silent_p.V540V	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	595	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGGCAGAGGTCAACGAGGAAG	0.602		NaN											0	0	0	1	0	29	42				
FA2H	79152	broad.mit.edu	37	16	74761154	74761154	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:74761154G>C	uc002fde.1	-	3	562	c.494C>G	c.(493-495)TCT>TGT	p.S165C	FA2H_uc010vmy.1_Intron	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	165					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						GACAGTCTTAGAGAGGCCCTC	0.587		NaN											0	0	0	1	0	25	38				
LDHD	197257	broad.mit.edu	37	16	75150574	75150574	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75150574C>G	uc002fdm.2	-	1	92	c.45G>C	c.(43-45)TGG>TGC	p.W15C	LDHD_uc002fdn.2_Missense_Mutation_p.W15C	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	15							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						AGTAGCCCCTCCAGGGGAACA	0.627		NaN											0	0	0	1	0	70	112				
TERF2IP	54386	broad.mit.edu	37	16	75690294	75690294	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75690294C>A	uc002fet.1	+	3	1082	c.985C>A	c.(985-987)CTA>ATA	p.L329I		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	329					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						TAACTTGGATCTATCAACAGT	0.388		NaN											1	0	1.4958e-60	1	1.60582e-60	93	168				
CENPN	55839	broad.mit.edu	37	16	81053723	81053723	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81053723G>C	uc002ffx.2	+	6	1163	c.373G>C	c.(373-375)GAA>CAA	p.E125Q	CENPN_uc002ffw.3_Missense_Mutation_p.E125Q|CENPN_uc010vnl.1_Missense_Mutation_p.E125Q|CENPN_uc010vnm.1_Missense_Mutation_p.E105Q|CENPN_uc002ffy.3_Missense_Mutation_p.E125Q	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	125					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						CAGCTTCAGAGAAACTGAGGA	0.423		NaN											0	0	0	1	0	30	33				
BCMO1	53630	broad.mit.edu	37	16	81303925	81303925	+	Missense_Mutation	SNP	C	C	G	rs141341532	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81303925C>G	uc002fgn.1	+	7	1223	c.1005C>G	c.(1003-1005)TTC>TTG	p.F335L	BCMO1_uc010vnp.1_Missense_Mutation_p.F266L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	335					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						ACCAGCTCTTCTACCTGGCCA	0.577		NaN											0	0	0	1	0	46	71				
ZCCHC14	23174	broad.mit.edu	37	16	87448115	87448115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87448115G>A	uc002fjz.1	-	10	1124	c.1097C>T	c.(1096-1098)TCG>TTG	p.S366L	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S142L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	366					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGCGGGGCCGAGGGGTTCAG	0.637		NaN											0	0	0	1	0	24	31				
KLHDC4	54758	broad.mit.edu	37	16	87741967	87741967	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87741967G>A	uc002fki.2	-	11	1599	c.1553C>T	c.(1552-1554)GCG>GTG	p.A518V	LOC100129637_uc002fkg.2_5'Flank|LOC100129637_uc002fke.2_5'Flank|KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Missense_Mutation_p.R203W|KLHDC4_uc002fkj.2_Missense_Mutation_p.A487V|KLHDC4_uc002fkk.2_Missense_Mutation_p.A337V|KLHDC4_uc002fkl.2_Missense_Mutation_p.A461V	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	518										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAGTCCTCCGCACCGCTCTC	0.622		NaN											0	0	0	1	0	59	90				
ZC3H18	124245	broad.mit.edu	37	16	88677720	88677720	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88677720C>G	uc002fky.2	+	8	1451	c.1251C>G	c.(1249-1251)CGC>CGG	p.R417R	ZC3H18_uc010voy.1_Silent_p.R300R|ZC3H18_uc010voz.1_Silent_p.R441R|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	417	Potential.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agcgcgagcgcgagcgggagc	0		NaN											0	0	0	1	0	2	5				
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88870299C>T	uc002flu.2	+	1	114	c.60C>T	c.(58-60)ATC>ATT	p.I20I		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	20	PIP-box K+4 motif.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.572		NaN											0	0	0	1	0	13	23				
ANKRD11	29123	broad.mit.edu	37	16	89350394	89350394	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:89350394G>C	uc002fmx.1	-	9	3017	c.2556C>G	c.(2554-2556)TTC>TTG	p.F852L	ANKRD11_uc002fmy.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnc.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnb.1_Missense_Mutation_p.F809L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	852	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCCCTTTGAAATCAAAGG	0.488		NaN											0	0	0	1	0	48	59				
MYO1C	4641	broad.mit.edu	37	17	1378124	1378124	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:1378124G>T	uc002fsp.2	-	16	1918	c.1698C>A	c.(1696-1698)CTC>CTA	p.L566L	MYO1C_uc002fsn.2_Silent_p.L547L|MYO1C_uc002fso.2_Silent_p.L531L|MYO1C_uc010vqj.1_Silent_p.L531L|MYO1C_uc010vqk.1_Silent_p.L542L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	566	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTTCCGGAAGAGAAGGTCAT	0.637		NaN											1	0	2.17126e-26	1	2.29479e-26	42	7				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:7577127C>T	uc002gim.2	-	8	1005	c.811G>A	c.(811-813)GAG>AAG	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	271	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACGCACCTCAAAGCTGTTC	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	1	0	18	2		Valid		
C17orf59	54785	broad.mit.edu	37	17	8092765	8092765	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:8092765G>C	uc010vut.1	-	1	800	c.694C>G	c.(694-696)CCA>GCA	p.P232A		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	232	Pro-rich.										0						GGCGGGGGTGGAGGCGCGCCG	0.682		NaN											0	0	0	1	0	6	2				
RAI1	10743	broad.mit.edu	37	17	17701534	17701534	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:17701534G>A	uc002grm.2	+	3	5741	c.5272G>A	c.(5272-5274)GAC>AAC	p.D1758N	RAI1_uc002grn.1_Missense_Mutation_p.D1758N	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1758						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCCCAGGCCTGACGGCCCAGC	0.697		NaN											0	0	0	1	0	9	0				
TOP3A	7156	broad.mit.edu	37	17	18188594	18188594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:18188594G>C	uc002gsx.1	-	15	1968	c.1739C>G	c.(1738-1740)TCT>TGT	p.S580C	TOP3A_uc010cpz.1_Missense_Mutation_p.S32C|TOP3A_uc010vxr.1_Missense_Mutation_p.S110C|TOP3A_uc002gsw.1_Missense_Mutation_p.S32C|TOP3A_uc010vxs.1_Missense_Mutation_p.S478C	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	580					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GTCAGGCTTAGACATTTCATA	0.522		NaN											0	0	0	1	0	42	8				
EFCAB5	374786	broad.mit.edu	37	17	28296332	28296332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:28296332G>A	uc002het.2	+	4	906	c.714G>A	c.(712-714)ATG>ATA	p.M238I	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.M182I|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.M117I|EFCAB5_uc010csf.2_Missense_Mutation_p.M117I	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	238							calcium ion binding			ovary(1)|skin(1)	2						AGAGGTTGATGAAAGAAGTCA	0.358		NaN											0	0	0	1	0	44	3				
NF1	4763	broad.mit.edu	37	17	29554250	29554250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:29554250C>T	uc002hgg.2	+	19	2599	c.2266C>T	c.(2266-2268)CAG>TAG	p.Q756*	NF1_uc002hgh.2_Nonsense_Mutation_p.Q756*|NF1_uc010csn.1_Nonsense_Mutation_p.Q616*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	756					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)|p.Q756*(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGCACTTCAGAAAAGAGT	0.517		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	1	0	172	18		Valid		
SUZ12	23512	broad.mit.edu	37	17	30323823	30323823	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:30323823G>C	uc002hgs.2	+	15	2023	c.1801G>C	c.(1801-1803)GAA>CAA	p.E601Q	SUZ12_uc002hgt.2_Missense_Mutation_p.E578Q	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	601	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CCAGCAAATTGAAGAGTTTTC	0.299		NaN	T	JAZF1	endometrial stromal tumours								0	0	0	1	0	7	62				
GPR179	440435	broad.mit.edu	37	17	36485624	36485624	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36485624C>T	uc002hpz.2	-	11	3849	c.3828G>A	c.(3826-3828)TCG>TCA	p.S1276S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1276	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTAGTGCCCTCGACTCTGGGG	0.562		NaN											0	0	0	1	0	80	2				
GPR179	440435	broad.mit.edu	37	17	36486316	36486316	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486316C>T	uc002hpz.2	-	11	3157	c.3136G>A	c.(3136-3138)GAG>AAG	p.E1046K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1046	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCGTCCATCTCATTCTCCCCA	0.597		NaN											0	0	0	1	0	87	7				
GPR179	440435	broad.mit.edu	37	17	36486596	36486596	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486596C>T	uc002hpz.2	-	11	2877	c.2856G>A	c.(2854-2856)AGG>AGA	p.R952R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	952	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGATAGCATCCTTGGCTCTC	0.468		NaN											0	0	0	1	0	19	2				
GPR179	440435	broad.mit.edu	37	17	36487082	36487082	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36487082C>T	uc002hpz.2	-	11	2391	c.2370G>A	c.(2368-2370)CTG>CTA	p.L790L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	790	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCCTCCTCAGCAGTGAGT	0.657		NaN											0	0	0	1	0	17	2				
KRTAP4-12	83755	broad.mit.edu	37	17	39279805	39279805	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:39279805G>A	uc002hwa.2	-	1	615	c.570C>T	c.(568-570)TGC>TGT	p.C190C		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	190						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGGGCGGGGGCAGGTGGAGA	0.478		NaN											0	0	0	1	0	3	36				
BRCA1	672	broad.mit.edu	37	17	41245834	41245834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:41245834C>T	uc002icq.2	-	10	1946	c.1714G>A	c.(1714-1716)GAA>AAA	p.E572K	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E501K|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E525K|BRCA1_uc002ict.2_Missense_Mutation_p.E572K|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E572K|BRCA1_uc002ide.1_Missense_Mutation_p.E403K|BRCA1_uc010cyy.1_Missense_Mutation_p.E572K|BRCA1_uc010whs.1_Missense_Mutation_p.E572K|BRCA1_uc010cyz.2_Missense_Mutation_p.E525K|BRCA1_uc010cza.2_Missense_Mutation_p.E546K|BRCA1_uc010wht.1_Missense_Mutation_p.E276K	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	572					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCGAGTGATTCTATTGGGTTA	0.338		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			0	0	0	1	0	90	4				
TEX14	56155	broad.mit.edu	37	17	56646611	56646611	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:56646611G>C	uc010dcz.1	-	27	4084	c.3966C>G	c.(3964-3966)TTC>TTG	p.F1322L	TEX14_uc002iwr.1_Missense_Mutation_p.F1316L|TEX14_uc002iws.1_Missense_Mutation_p.F1276L|TEX14_uc010dda.1_Missense_Mutation_p.F1056L	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1322						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGCTGTGAGAAGGCTTCTA	0.418		NaN											0	0	0	1	0	65	13				
HELZ	9931	broad.mit.edu	37	17	65141996	65141996	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:65141996C>G	uc010wqk.1	-	21	2822	c.2635G>C	c.(2635-2637)GAG>CAG	p.E879Q	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E878Q	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGAAAAGCTCAGAGGTATAA	0.373		NaN											0	0	0	1	0	20	35				
COG1	9382	broad.mit.edu	37	17	71197805	71197805	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:71197805C>G	uc002jjg.2	+	7	1875	c.1839C>G	c.(1837-1839)TTC>TTG	p.F613L	COG1_uc002jjh.2_Missense_Mutation_p.F613L|COG1_uc002jjf.1_Missense_Mutation_p.F613L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	613					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGTTCTTTTCATGGCCAGAC	0.547		NaN											0	0	0	1	0	57	6				
MIF4GD	57409	broad.mit.edu	37	17	73262901	73262901	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73262901C>G	uc002jnr.2	-	6	718	c.589G>C	c.(589-591)GAG>CAG	p.E197Q	MIF4GD_uc002jno.2_Missense_Mutation_p.E238Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E231Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E238Q			A9UHW6	MI4GD_HUMAN	RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;	197	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			ovary(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCAATGATCTCCAGCAGCAGC	0.592		NaN											0	0	0	1	0	106	7				
ACOX1	51	broad.mit.edu	37	17	73949633	73949633	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73949633G>C	uc002jqf.2	-	7	1133	c.843C>G	c.(841-843)GTC>GTG	p.V281V	ACOX1_uc010wsq.1_Silent_p.V243V|ACOX1_uc002jqe.2_Silent_p.V281V|ACOX1_uc010wsr.1_Silent_p.V213V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	281					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						GGAAGGACCTGACAAACACCA	0.527		NaN											0	0	0	1	0	94	14				
SRP68	6730	broad.mit.edu	37	17	74057619	74057619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74057619C>G	uc002jqk.1	-	5	633	c.598G>C	c.(598-600)GAA>CAA	p.E200Q	SRP68_uc010wsu.1_Missense_Mutation_p.E99Q|SRP68_uc002jql.1_Missense_Mutation_p.E162Q	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	200					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						TCTTGATGTTCAAAACGTAGC	0.433		NaN											0	0	0	1	0	76	8				
MGAT5B	146664	broad.mit.edu	37	17	74900408	74900408	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74900408C>T	uc002jti.2	+	5	730	c.627C>T	c.(625-627)CTC>CTT	p.L209L	MGAT5B_uc002jth.2_Silent_p.L198L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	198	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GCTCCTTCCTCATCTACCTCA	0.667		NaN											0	0	0	1	0	19	1				
SYNGR2	9144	broad.mit.edu	37	17	76167833	76167833	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:76167833C>T	uc002juu.1	+	4	518	c.491C>T	c.(490-492)TCC>TTC	p.S164F	SYNGR2_uc002jut.2_Missense_Mutation_p.P194S|SYNGR2_uc002juv.1_Silent_p.L117L|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	164	MARVEL.|Helical; (Potential).					integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GTGCTGGCCTCCCTGGCCTAC	0.652		NaN											0	0	0	1	0	94	15				
LPIN2	9663	broad.mit.edu	37	18	2937747	2937747	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:2937747C>G	uc002klo.2	-	7	1350	c.1111G>C	c.(1111-1113)GAG>CAG	p.E371Q		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	371					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAGGGCGCCTCCGCTAAGGCT	0.483		NaN											0	0	0	1	0	45	74				
LAMA1	284217	broad.mit.edu	37	18	6961983	6961983	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:6961983G>C	uc002knm.2	-	52	7507	c.7413C>G	c.(7411-7413)CTC>CTG	p.L2471L	LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Silent_p.L1947L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2471	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAATTTCTGAGTAAGTCAA	0.403		NaN											0	0	0	1	0	83	103				
PTPRM	5797	broad.mit.edu	37	18	8244134	8244134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:8244134G>C	uc002knn.3	+	15	2882	c.2379G>C	c.(2377-2379)AAG>AAC	p.K793N	PTPRM_uc010dkv.2_Missense_Mutation_p.K793N|PTPRM_uc010wzl.1_Missense_Mutation_p.K580N	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	793	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CAATGGACAAGAGCTATGCTG	0.463		NaN											0	0	0	1	0	74	90				
NPC1	4864	broad.mit.edu	37	18	21120457	21120457	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21120457C>G	uc002kum.3	-	17	2833	c.2559G>C	c.(2557-2559)CTG>CTC	p.L853L	NPC1_uc010xaz.1_Silent_p.L586L|NPC1_uc010xba.1_Silent_p.L698L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	853	Helical; (Potential).				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTACTTTGTTCAGGACTGCGA	0.358		NaN											0	0	0	1	0	22	51				
OSBPL1A	114876	broad.mit.edu	37	18	21914240	21914240	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21914240C>T	uc002kve.2	-	6	623	c.449G>A	c.(448-450)AGA>AAA	p.R150K		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	150					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTGCCTTCTCTTGCTGCTGC	0.363		NaN											0	0	0	1	0	30	51				
CHST9	83539	broad.mit.edu	37	18	24496276	24496276	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:24496276C>T	uc002kwd.2	-	5	1477	c.1279G>A	c.(1279-1281)GAC>AAC	p.D427N	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D342N|CHST9_uc002kwe.2_Missense_Mutation_p.D427N	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	427	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TAATAAAAGTCATAGATTAAT	0.313		NaN											0	0	0	1	0	30	54				
C18orf34	374864	broad.mit.edu	37	18	30554571	30554571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30554571C>T	uc002kxn.2	-	21	2605	c.2463G>A	c.(2461-2463)ATG>ATA	p.M821I	C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.M285I|C18orf34_uc010xbr.1_Missense_Mutation_p.M845I|C18orf34_uc010dmf.1_Missense_Mutation_p.M141I|C18orf34_uc002kxo.2_Missense_Mutation_p.M783I|C18orf34_uc002kxp.2_Missense_Mutation_p.M821I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	821										ovary(1)	1						TGGCCAGCCTCATCTGGCTGA	0.493		NaN											0	0	0	1	0	51	45				
C18orf34	374864	broad.mit.edu	37	18	30791874	30791874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30791874G>C	uc002kxn.2	-	19	2366	c.2224C>G	c.(2224-2226)CTT>GTT	p.L742V	C18orf34_uc010dme.1_Missense_Mutation_p.L256V|C18orf34_uc010xbr.1_Missense_Mutation_p.L742V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L704V|C18orf34_uc002kxp.2_Missense_Mutation_p.L742V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	742										ovary(1)	1						GTATCTTGAAGAGTTTTTTGT	0.328		NaN											0	0	0	1	0	22	29				
PHLPP1	23239	broad.mit.edu	37	18	60645778	60645778	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:60645778G>T	uc002lis.2	+	18	2910	c.2732G>T	c.(2731-2733)AGT>ATT	p.S911I		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1423					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						GTGCAGCTCAGTGTCACTGAG	0.632		NaN											1	0	9.05144e-12	1	9.29403e-12	10	13				
ZNF236	7776	broad.mit.edu	37	18	74583695	74583695	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:74583695G>A	uc002lmi.2	+	5	773	c.575G>A	c.(574-576)AGA>AAA	p.R192K	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R192K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	192					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AATATCGACAGAAGTGGATTC	0.418		NaN											0	0	0	1	0	70	86				
ZFR2	23217	broad.mit.edu	37	19	3834946	3834946	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:3834946C>T	uc002lyw.2	-	2	101	c.89G>A	c.(88-90)GGG>GAG	p.G30E	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	30						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ATAGCTGGCCCCCACAGTGGG	0.637		NaN											0	0	0	1	0	11	5				
TMEM146	257062	broad.mit.edu	37	19	5745940	5745940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:5745940C>G	uc002mda.2	+	9	735	c.674C>G	c.(673-675)TCA>TGA	p.S225*	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	225	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCAAGTACTCAGATCACCCC	0.468		NaN											0	0	0	1	0	85	249				
NDUFA7	4701	broad.mit.edu	37	19	8386222	8386222	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:8386222G>A	uc002mjm.1	-	1	59	c.21C>T	c.(19-21)CTC>CTT	p.L7L	RPS28_uc002mjn.2_5'Flank	NM_005001	NP_004992	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	7					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	GCCGCTGGATGAGACGGGTGG	0.716		NaN											0	0	0	1	0	4	4				
MUC16	94025	broad.mit.edu	37	19	9067806	9067806	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9067806G>C	uc002mkp.2	-	3	19844	c.19640C>G	c.(19639-19641)TCT>TGT	p.S6547C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6549	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACTAGGCCAGAGGTGGGGAG	0.488		NaN											0	0	0	1	0	28	17				
MUC16	94025	broad.mit.edu	37	19	9071775	9071775	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9071775C>G	uc002mkp.2	-	3	15875	c.15671G>C	c.(15670-15672)AGT>ACT	p.S5224T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5226	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACCCCTGTACTGGAGACCTC	0.507		NaN											0	0	0	1	0	88	53				
YIPF2	78992	broad.mit.edu	37	19	11034009	11034009	+	Silent	SNP	G	G	A	rs151256467	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:11034009G>A	uc002mqb.2	-	9	1033	c.909C>T	c.(907-909)ATC>ATT	p.I303I	YIPF2_uc002mqc.2_Silent_p.I303I	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	303	Lumenal (Potential).					integral to membrane|transport vesicle					0						GGGACAGCGCGATGTTTGAGG	0.627		NaN											0	0	0	1	0	47	140				
ZNF700	90592	broad.mit.edu	37	19	12060829	12060829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:12060829C>G	uc002msu.2	+	4	2116	c.1990C>G	c.(1990-1992)CAA>GAA	p.Q664E	ZNF700_uc010xme.1_Missense_Mutation_p.Q682E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	664	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCTTCTTTTCAAATACATGA	0.398		NaN											0	0	0	1	0	26	27				
LPHN1	22859	broad.mit.edu	37	19	14273746	14273746	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:14273746C>G	uc010xnn.1	-	6	1178	c.882G>C	c.(880-882)CAG>CAC	p.Q294H	LPHN1_uc010xno.1_Missense_Mutation_p.Q289H|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	294	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						AGGGGTTCAGCTGGCTCACCA	0.632		NaN											0	0	0	1	0	11	36				
JAK3	3718	broad.mit.edu	37	19	17953847	17953847	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:17953847C>T	uc002nhn.3	-	5	655	c.555G>A	c.(553-555)CTG>CTA	p.L185L	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Silent_p.L185L|JAK3_uc010xpx.1_Silent_p.L185L|JAK3_uc010xpy.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	185	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TGACAGTCTTCAGCAGCTCTC	0.672		2	Mis		acute megakaryocytic leukemia|								0	0	0	1	0	42	28				
UPF1	5976	broad.mit.edu	37	19	18968269	18968269	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:18968269G>C	uc002nkg.2	+	15	2417	c.2142G>C	c.(2140-2142)CGG>CGC	p.R714R	UPF1_uc002nkf.2_Silent_p.R703R|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	714				R->A: Impairs ATPase activity and ATP binding.	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCCAGTACCGGATGCACCCTG	0.647		NaN											0	0	0	1	0	22	16				
ZNF626	199777	broad.mit.edu	37	19	20807417	20807417	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:20807417C>G	uc002npb.1	-	4	1416	c.1266G>C	c.(1264-1266)GAG>GAC	p.E422D	ZNF626_uc002npc.1_Missense_Mutation_p.E346D	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGTAGGGTCTCTCTCCAGTAT	0.378		NaN											0	0	0	1	0	46	35				
ZNF91	7644	broad.mit.edu	37	19	23544674	23544674	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:23544674C>G	uc002nre.2	-	4	1220	c.1107G>C	c.(1105-1107)AAG>AAC	p.K369N	ZNF91_uc010xrj.1_Missense_Mutation_p.K337N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	369	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAGTTATCTTATGATTAG	0.358		NaN											0	0	0	1	0	15	45				
ZNF599	148103	broad.mit.edu	37	19	35251122	35251122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251122C>G	uc010edn.1	-	4	972	c.584G>C	c.(583-585)AGG>ACG	p.R195T	ZNF599_uc010edm.1_Missense_Mutation_p.R158T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGGGTTATTCCTTGCATCAGT	0.493		NaN											0	0	0	1	0	37	83				
ZNF599	148103	broad.mit.edu	37	19	35251243	35251243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251243C>T	uc010edn.1	-	4	851	c.463G>A	c.(463-465)GAT>AAT	p.D155N	ZNF599_uc010edm.1_Missense_Mutation_p.D118N	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCAAATCATCATGTTTATAA	0.438		NaN											0	0	0	1	0	34	127				
ZNF599	148103	broad.mit.edu	37	19	35251274	35251274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251274C>G	uc010edn.1	-	4	820	c.432G>C	c.(430-432)GAG>GAC	p.E144D	ZNF599_uc010edm.1_Missense_Mutation_p.E107D	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CAGGGCATATCTCTTTGTGGG	0.448		NaN											0	0	0	1	0	44	161				
GRAMD1A	57655	broad.mit.edu	37	19	35502453	35502453	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35502453G>C	uc010xse.1	+	7	738	c.601G>C	c.(601-603)GAA>CAA	p.E201Q	GRAMD1A_uc002nxi.1_Missense_Mutation_p.E288Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.E194Q|GRAMD1A_uc002nxl.2_Missense_Mutation_p.L4F|GRAMD1A_uc010xsf.1_Missense_Mutation_p.E206Q|GRAMD1A_uc002nxm.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	201						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCACTGCTTGAAAAGGTGGG	0.627		NaN											0	0	0	1	0	30	81				
ZNF781	163115	broad.mit.edu	37	19	38161042	38161042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:38161042C>G	uc002ogy.2	-	4	750	c.8G>C	c.(7-9)AGA>ACA	p.R3T	ZNF781_uc002ogz.2_5'UTR	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTGCATTTCTTTGCATTAA	0.343		NaN											0	0	0	1	0	27	81				
SERTAD1	29950	broad.mit.edu	37	19	40929372	40929372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:40929372G>A	uc002ont.3	-	2	241	c.82C>T	c.(82-84)CCT>TCT	p.P28S		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTGGCCAGGATCTAGCCAC	0.567		NaN											0	0	0	1	0	48	29				
CYP2F1	1572	broad.mit.edu	37	19	41628036	41628036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:41628036G>C	uc002opu.1	+	6	876	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	CYP2F1_uc010xvw.1_Missense_Mutation_p.E60Q|CYP2F1_uc010xvv.1_Missense_Mutation_p.E274Q|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	274					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CAAGATGGCAGAGGTAATCCC	0.602		NaN											0	0	0	1	0	32	21				
PLAUR	5329	broad.mit.edu	37	19	44156432	44156432	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:44156432G>C	uc002oxf.1	-	6	929	c.699C>G	c.(697-699)TTC>TTG	p.F233L	PLAUR_uc002oxd.1_Missense_Mutation_p.F233L|PLAUR_uc002oxe.1_Missense_Mutation_p.F228L|PLAUR_uc002oxg.1_Missense_Mutation_p.F188L	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	233	UPAR/Ly6 3.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGTCAATGAGGAAAGTCTCTT	0.572		NaN									OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	24	62				
PVR	5817	broad.mit.edu	37	19	45164564	45164564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:45164564G>C	uc002ozm.2	+	7	1455	c.1156G>C	c.(1156-1158)GAG>CAG	p.E386Q	PVR_uc010xxb.1_Missense_Mutation_p.E333Q|PVR_uc010xxc.1_Missense_Mutation_p.E341Q|PVR_uc002ozn.2_Missense_Mutation_p.E331Q	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	386	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCAGGTACAGAGCATGCCAG	0.547		NaN											0	0	0	1	0	41	33				
PRKD2	25865	broad.mit.edu	37	19	47181774	47181774	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47181774C>T	uc002pfh.2	-	17	2559	c.2217G>A	c.(2215-2217)GTG>GTA	p.V739V	PRKD2_uc002pfd.2_Silent_p.V113V|PRKD2_uc010eks.2_Silent_p.V142V|PRKD2_uc010ekt.2_Silent_p.V6V|PRKD2_uc002pfe.2_Silent_p.V259V|PRKD2_uc002pff.2_Silent_p.V259V|PRKD2_uc002pfg.2_Silent_p.V582V|PRKD2_uc002pfi.2_Silent_p.V739V|PRKD2_uc002pfj.2_Silent_p.V739V|PRKD2_uc010xye.1_Silent_p.V739V|PRKD2_uc002pfk.2_Silent_p.V582V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	739	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTACATGATCACGCCCACTG	0.627		NaN											0	0	0	1	0	57	56				
PRKD2	25865	broad.mit.edu	37	19	47204090	47204090	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47204090C>T	uc002pfh.2	-	8	1429	c.1087G>A	c.(1087-1089)GAG>AAG	p.E363K	PRKD2_uc002pfg.2_Missense_Mutation_p.E206K|PRKD2_uc002pfi.2_Missense_Mutation_p.E363K|PRKD2_uc002pfj.2_Missense_Mutation_p.E363K|PRKD2_uc010xye.1_Missense_Mutation_p.E363K|PRKD2_uc002pfk.2_Missense_Mutation_p.E206K	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	363					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E363E(1)		ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCTCCTCCTCACTGGCGTGG	0.587		NaN											0	0	0	1	0	35	34				
CYTH2	9266	broad.mit.edu	37	19	48973714	48973714	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:48973714G>A	uc002pjj.3	+	2	424	c.124G>A	c.(124-126)GAA>AAA	p.E42K	uc002pjg.2_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.E42K|CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	42	Potential.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GGAGCTCAGTGAAGCCATGAG	0.677		NaN											0	0	0	1	0	18	80				
LMTK3	114783	broad.mit.edu	37	19	49000753	49000753	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49000753G>A	uc002pjk.2	-	12	3660	c.3660C>T	c.(3658-3660)CTC>CTT	p.L1220L		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGTCTCCGCTGAGTGCCGTGT	0.716		NaN											0	0	0	1	0	8	42				
BCAT2	587	broad.mit.edu	37	19	49300454	49300454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49300454C>G	uc002pkr.2	-	7	869	c.832G>C	c.(832-834)GAT>CAT	p.D278H	BCAT2_uc002pkp.2_Missense_Mutation_p.D238H|BCAT2_uc002pkq.3_Missense_Mutation_p.D238H|BCAT2_uc002pks.2_Missense_Mutation_p.D238H|BCAT2_uc002pkt.2_Missense_Mutation_p.D186H|BCAT2_uc010emh.1_Missense_Mutation_p.D278H|BCAT2_uc010emi.1_Missense_Mutation_p.D186H	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	278						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTACCCCCATCTTCGTGGGTC	0.607		NaN											0	0	0	1	0	16	17				
ALDH16A1	126133	broad.mit.edu	37	19	49965030	49965030	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965030G>A	uc002pnt.2	+	6	848	c.732G>A	c.(730-732)CGG>CGA	p.R244R	ALDH16A1_uc010yar.1_Silent_p.R244R|ALDH16A1_uc010yas.1_Silent_p.R79R|ALDH16A1_uc010yat.1_Silent_p.R81R	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	244							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGAATCCGGAAGGTGGCCT	0.711		NaN											0	0	0	1	0	6	17				
ALDH16A1	126133	broad.mit.edu	37	19	49965915	49965915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965915G>A	uc002pnt.2	+	8	1117	c.1001G>A	c.(1000-1002)CGA>CAA	p.R334Q	ALDH16A1_uc010yar.1_Missense_Mutation_p.R283Q|ALDH16A1_uc010yas.1_Missense_Mutation_p.R169Q|ALDH16A1_uc010yat.1_Missense_Mutation_p.R171Q	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	334							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGGAGTGGCCGAGGGCTGGAT	0.672		NaN											0	0	0	1	0	31	65				
ZNF616	90317	broad.mit.edu	37	19	52618746	52618746	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52618746G>A	uc002pym.2	-	4	1954	c.1671C>T	c.(1669-1671)GTC>GTT	p.V557V	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	557	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTGACTGAAGACCTTGCCAC	0.438		NaN											0	0	0	1	0	58	34				
ZNF321	399669	broad.mit.edu	37	19	53432634	53432634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:53432634G>A	uc010eqj.2	-	4	346	c.176C>T	c.(175-177)TCA>TTA	p.S59L	ZNF321_uc002qaj.1_Missense_Mutation_p.S6L|ZNF321_uc002qak.1_Missense_Mutation_p.S59L	NM_203307	NP_976052			zinc finger protein 321												0				GBM - Glioblastoma multiforme(134;0.0305)		CGCTGTGGATGAGAACTCCTT	0.353		NaN											0	0	0	1	0	104	88				
TNNT1	7138	broad.mit.edu	37	19	55645272	55645272	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55645272G>A	uc002qjb.3	-	13	863	c.774C>T	c.(772-774)ATC>ATT	p.I258I	TNNT1_uc002qiz.3_Silent_p.I172I|TNNT1_uc002qja.3_Silent_p.I172I|TNNT1_uc002qjc.3_Silent_p.I242I|TNNT1_uc002qje.3_Silent_p.I231I|TNNT1_uc002qjd.3_Silent_p.I231I	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	258					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGGCGTGGCTGATGCGGTTGT	0.627		NaN											0	0	0	1	0	50	30				
C19orf51	352909	broad.mit.edu	37	19	55672758	55672758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55672758C>A	uc002qji.1	-	7	726	c.692G>T	c.(691-693)CGA>CTA	p.R231L	C19orf51_uc002qjh.1_Missense_Mutation_p.R46L|C19orf51_uc002qjj.1_Missense_Mutation_p.R278L|C19orf51_uc002qjk.1_Missense_Mutation_p.R177L|C19orf51_uc002qjl.1_Missense_Mutation_p.R299L			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	231											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGCCAGCGTCGGAACTCCTG	0.587		NaN											1	0	0.00307968	1	0.00309483	6	16				
NLRP8	126205	broad.mit.edu	37	19	56466732	56466732	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56466732C>T	uc002qmh.2	+	3	1379	c.1308C>T	c.(1306-1308)CCC>CCT	p.P436P	NLRP8_uc010etg.2_Silent_p.P436P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	436	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTTGTTTCCCACCAGAGCTG	0.488		NaN											0	0	0	1	0	65	42				
ZNF582	147948	broad.mit.edu	37	19	56895395	56895395	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56895395G>C	uc002qmz.1	-	5	1550	c.1391C>G	c.(1390-1392)TCA>TGA	p.S464*	ZNF582_uc002qmy.2_Nonsense_Mutation_p.S495*	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AACGGTAGTTGAATCATGACT	0.363		NaN											0	0	0	1	0	23	108				
ZNF470	388566	broad.mit.edu	37	19	57088680	57088680	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:57088680C>G	uc002qnl.3	+	6	1559	c.883C>G	c.(883-885)CAG>GAG	p.Q295E	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	295	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGCCTTCAGCCAGAATGCTCA	0.448		NaN											0	0	0	1	0	58	50				
MZF1	7593	broad.mit.edu	37	19	59073565	59073565	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:59073565C>T	uc002qto.2	-	6	2640	c.2079G>A	c.(2077-2079)CGG>CGA	p.R693R	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.R693R	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	693	C2H2-type 12.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGAGCGTGGGCCGCTGGCGGA	0.667		NaN											0	0	0	1	0	7	26				
CPSF3	51692	broad.mit.edu	37	2	9583767	9583767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:9583767C>T	uc002qzo.1	+	10	1254	c.1219C>T	c.(1219-1221)CGT>TGT	p.R407C	CPSF3_uc010ewx.1_Intron|CPSF3_uc002qzp.1_Missense_Mutation_p.R370C	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	407					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGAATTTATTCGTGCTTTGAA	0.388		NaN											0	0	0	1	0	59	113				
NTSR2	23620	broad.mit.edu	37	2	11802148	11802148	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:11802148C>T	uc002rbq.3	-	2	917	c.843G>A	c.(841-843)GTG>GTA	p.V281V		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	281	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTTTATGTCTCACCAGGCTGA	0.557		NaN											0	0	0	1	0	68	81				
C2orf39	92749	broad.mit.edu	37	2	26624903	26624903	+	Nonsense_Mutation	SNP	G	G	T	rs149082901		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:26624903G>T	uc002rhg.2	+	1	120	c.46G>T	c.(46-48)GAG>TAG	p.E16*	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	16											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACGTGGACGAGCACTTGTC	0.677		NaN											1	0	2.89027e-11	1	2.94798e-11	20	28				
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27302012C>G	uc002rii.3	+	1	507	c.79C>G	c.(79-81)CGA>GGA	p.R27G	EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	27					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716		NaN											0	0	0	1	0	12	18				
C2orf53	339779	broad.mit.edu	37	2	27360541	27360541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27360541C>T	uc002rjb.2	-	3	1237	c.657G>A	c.(655-657)CTG>CTA	p.L219L	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	219											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGTGCCCCAGCTGGACCA	0.662		NaN											0	0	0	1	0	36	33				
ZNF513	130557	broad.mit.edu	37	2	27600419	27600419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27600419G>T	uc002rkk.2	-	4	1819	c.1619C>A	c.(1618-1620)TCA>TAA	p.S540*	ZNF513_uc002rkj.2_Nonsense_Mutation_p.S478*	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	540					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCAGGATGAGTCTGTGTG	0.607		NaN											1	0	8.16277e-20	1	8.48098e-20	32	56				
BIRC6	57448	broad.mit.edu	37	2	32716581	32716581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32716581C>G	uc010ezu.2	+	44	8430	c.8296C>G	c.(8296-8298)CTT>GTT	p.L2766V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2766					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTGAAATTTCTTTCTGGCAC	0.398		NaN											0	0	0	1	0	72	101				
BIRC6	57448	broad.mit.edu	37	2	32740370	32740370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32740370G>C	uc010ezu.2	+	55	11016	c.10882G>C	c.(10882-10884)GAC>CAC	p.D3628H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3628					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ACAATTACTAGACTCAGGTTT	0.418		NaN											0	0	0	1	0	38	47				
SLC8A1	6546	broad.mit.edu	37	2	40656481	40656481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:40656481C>A	uc002rrx.2	-	1	964	c.940G>T	c.(940-942)GAG>TAG	p.E314*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E314*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E314*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	314	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGTCCCTCTCATCCACCTCC	0.413		NaN											1	0	1.46924e-35	1	1.56091e-35	83	129				
SPTBN1	6711	broad.mit.edu	37	2	54859746	54859746	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:54859746G>C	uc002rxu.2	+	17	3857	c.3608G>C	c.(3607-3609)GGA>GCA	p.G1203A	SPTBN1_uc002rxx.2_Missense_Mutation_p.G1190A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1203	Spectrin 9.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458		NaN											0	0	0	1	0	38	47				
PUS10	150962	broad.mit.edu	37	2	61175207	61175207	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:61175207G>A	uc010fci.2	-	16	1482	c.1422C>T	c.(1420-1422)TTC>TTT	p.F474F	PUS10_uc002sao.2_Silent_p.F474F|PUS10_uc010ypk.1_Silent_p.F251F	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	474					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AGTGGAGGCGGAAGTGGTGCT	0.547		NaN											0	0	0	1	0	116	130				
MPHOSPH10	10199	broad.mit.edu	37	2	71360405	71360405	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360405G>A	uc002sht.1	+	2	819	c.467G>A	c.(466-468)AGC>AAC	p.S156N	MPHOSPH10_uc010feb.1_Missense_Mutation_p.S156N	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	156					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						GAAAACTCAAGCAAATCTGAT	0.448		NaN											0	0	0	1	0	59	76				
MPHOSPH10	10199	broad.mit.edu	37	2	71360599	71360599	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360599G>C	uc002sht.1	+	2	1013	c.661G>C	c.(661-663)GAG>CAG	p.E221Q	MPHOSPH10_uc010feb.1_Missense_Mutation_p.E221Q	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	221	Potential.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						AGAAAAAGAAGAGGAACGAAA	0.338		NaN											0	0	0	1	0	40	33				
MPHOSPH10	10199	broad.mit.edu	37	2	71360641	71360641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360641G>C	uc002sht.1	+	2	1055	c.703G>C	c.(703-705)GAT>CAT	p.D235H	MPHOSPH10_uc010feb.1_Missense_Mutation_p.D235H	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	235	Potential.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						GGAAGATATTGATTTTTTTGA	0.343		NaN											0	0	0	1	0	49	52				
MOGS	7841	broad.mit.edu	37	2	74689845	74689845	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74689845C>T	uc010ffj.2	-	4	1234	c.1071G>A	c.(1069-1071)CTG>CTA	p.L357L	MOGS_uc010ffh.2_Silent_p.L82L|MOGS_uc010yrt.1_Silent_p.L238L|MOGS_uc010ffi.2_Silent_p.L251L	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	357	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GGGCCTGGGTCAGTAGACTGC	0.542		NaN											0	0	0	1	0	55	62				
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74757145G>A	uc002smi.1	+	1	614	c.12G>A	c.(10-12)CCG>CCA	p.P4P	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGGCTGCGCCGAGGGCGGGGC	0.741		NaN											0	0	0	1	0	57	67				
SEMA4F	10505	broad.mit.edu	37	2	74907021	74907021	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74907021C>T	uc002sna.1	+	14	2109	c.1998C>T	c.(1996-1998)TTC>TTT	p.F666F	SEMA4F_uc010ffr.1_Silent_p.F278F|SEMA4F_uc002snb.1_Silent_p.F278F|SEMA4F_uc002snc.1_Silent_p.F511F	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	666	Helical; (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGGCTGGCTTCTTCTTGGGGA	0.627		NaN											0	0	0	1	0	33	45				
KDM3A	55818	broad.mit.edu	37	2	86707394	86707394	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86707394C>T	uc002sri.3	+	16	2748	c.2421C>T	c.(2419-2421)GCC>GCT	p.A807A	KDM3A_uc010ytj.1_Silent_p.A807A|KDM3A_uc010ytk.1_Silent_p.A755A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	807					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CCAAGCCAGCCGGCAGCATGA	0.567		NaN											0	0	0	1	0	25	22				
ANKRD36B	57730	broad.mit.edu	37	2	98206122	98206122	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:98206122G>A	uc010yvc.1	-	1	307	c.27C>T	c.(25-27)TTC>TTT	p.F9F	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	9											0						GGGGAAATGCGAAGCCATCCG	0.512		NaN											0	0	0	1	0	30	47				
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:105472929G>A	uc010ywg.1	+	1	961	c.961G>A	c.(961-963)GAC>AAC	p.D321N		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						GACGTCGGACGACCTGGAGCA	0.617		NaN											0	0	0	1	0	34	34				
DPP10	57628	broad.mit.edu	37	2	116485505	116485505	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:116485505A>G	uc002tla.1	+	8	1147	c.690A>G	c.(688-690)TTA>TTG	p.L230L	DPP10_uc002tlb.1_Silent_p.L180L|DPP10_uc002tlc.1_Silent_p.L226L|DPP10_uc002tle.2_Silent_p.L234L|DPP10_uc002tlf.1_Silent_p.L223L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	230	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CTGACTGGTTATATGAAGGTG	0.299		NaN											0	0	0	1	0	19	19				
DDX18	8886	broad.mit.edu	37	2	118577326	118577326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:118577326G>A	uc002tlh.1	+	3	571	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	158							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						AGATAATGATGAAGATGAGAG	0.413		NaN									OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	1	0	17	45				
CNTNAP5	129684	broad.mit.edu	37	2	125555701	125555701	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:125555701G>A	uc002tno.2	+	19	3382	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T	CNTNAP5_uc010flu.2_Silent_p.T1007T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1006	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGCTGGCACGTCGGTTACTT	0.423		NaN											0	0	0	1	0	8	6				
UGGT1	56886	broad.mit.edu	37	2	128935411	128935411	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:128935411G>C	uc002tps.2	+	33	3808	c.3630G>C	c.(3628-3630)CAG>CAC	p.Q1210H	UGGT1_uc002tpr.2_Missense_Mutation_p.Q1186H	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1210					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TGCAGGTTCAGAAGAAGGCAG	0.418		NaN											0	0	0	1	0	96	288				
SMPD4	55627	broad.mit.edu	37	2	130911411	130911411	+	Nonsense_Mutation	SNP	G	G	C	rs142449057		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:130911411G>C	uc002tqq.1	-	17	2394	c.1874C>G	c.(1873-1875)TCA>TGA	p.S625*	SMPD4_uc002tqo.1_Nonsense_Mutation_p.S157*|SMPD4_uc002tqp.1_Nonsense_Mutation_p.S364*|SMPD4_uc010yzy.1_Nonsense_Mutation_p.S374*|SMPD4_uc010yzz.1_Nonsense_Mutation_p.S289*|SMPD4_uc002tqr.1_Nonsense_Mutation_p.S596*|SMPD4_uc002tqs.1_Nonsense_Mutation_p.S493*|SMPD4_uc002tqt.1_Nonsense_Mutation_p.S474*|SMPD4_uc010zaa.1_Nonsense_Mutation_p.S483*|SMPD4_uc010zab.1_Nonsense_Mutation_p.S523*|SMPD4_uc010zac.1_Nonsense_Mutation_p.S366*|SMPD4_uc010zad.1_Nonsense_Mutation_p.S261*	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	586					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCCAGCCATGAGAGGAAGGA	0.592		NaN											0	0	0	1	0	138	76				
ACMSD	130013	broad.mit.edu	37	2	135655919	135655919	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:135655919C>T	uc002ttz.2	+	9	925	c.858C>T	c.(856-858)GTC>GTT	p.V286V	ACMSD_uc002tua.2_Silent_p.V228V|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	286					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGATAAAGTCATTTTGGGAA	0.343		NaN											0	0	0	1	0	277	37				
XIRP2	129446	broad.mit.edu	37	2	168104227	168104227	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:168104227G>A	uc002udx.2	+	8	6343	c.6325G>A	c.(6325-6327)GAT>AAT	p.D2109N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1934N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1887N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1934					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAGAAGGATGATGTCTTTAA	0.368		NaN											0	0	0	1	0	39	10				
TTN	7273	broad.mit.edu	37	2	179406276	179406276	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179406276C>G	uc010zfg.1	-	299	90048	c.89824G>C	c.(89824-89826)GAT>CAT	p.D29942H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D23637H|TTN_uc010zfi.1_Missense_Mutation_p.D23570H|TTN_uc010zfj.1_Missense_Mutation_p.D23445H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30869							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGAAACATCAAATATCTGT	0.443		NaN											0	0	0	1	0	11	3				
TTN	7273	broad.mit.edu	37	2	179435914	179435914	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179435914C>G	uc010zfg.1	-	275	67465	c.67241G>C	c.(67240-67242)AGA>ACA	p.R22414T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16109T|TTN_uc010zfi.1_Missense_Mutation_p.R16042T|TTN_uc010zfj.1_Missense_Mutation_p.R15917T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23341							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGAGACTCTAAATTCATA	0.443		NaN											0	0	0	1	0	61	18				
CCDC141	285025	broad.mit.edu	37	2	179701672	179701673	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179701672_179701673GG>AA	uc002unf.1	-	13	2605_2606	c.2548_2549CC>TT	c.(2548-2550)CCA>TTA	p.P850L	CCDC141_uc002une.1_Missense_Mutation_p.P300L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	850	Ig-like.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAAGTCACTGGAGAACCTTCC	0.446		NaN											0	0	0	1	0	28	8				
CERKL	375298	broad.mit.edu	37	2	182430845	182430845	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:182430845A>G	uc002unx.2	-	4	718	c.617T>C	c.(616-618)ATG>ACG	p.M206T	CERKL_uc002uny.2_Missense_Mutation_p.M206T|CERKL_uc010zfm.1_Missense_Mutation_p.M162T|CERKL_uc002unz.2_Intron|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.M1T|CERKL_uc002uoe.2_Missense_Mutation_p.M206T	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	206	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCATATTCCATTACTATTAA	0.308		NaN											0	0	0	1	0	46	9				
ASNSD1	54529	broad.mit.edu	37	2	190532598	190532598	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:190532598G>C	uc002uqt.2	+	5	2007	c.1573G>C	c.(1573-1575)GAA>CAA	p.E525Q		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	525	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AATAATGATGGAACTGGGTCG	0.413		NaN											0	0	0	1	0	65	12				
CLK1	1195	broad.mit.edu	37	2	201718103	201718103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:201718103C>T	uc002uwe.2	-	13	1562	c.1381G>A	c.(1381-1383)GAT>AAT	p.D461N	CLK1_uc002uwd.2_Missense_Mutation_p.D284N|CLK1_uc010zhi.1_Missense_Mutation_p.D503N|CLK1_uc002uwf.2_Missense_Mutation_p.D235N|CLK1_uc002uwg.2_Missense_Mutation_p.D310N|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	461	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TTGGCTGGATCATACTCCAAC	0.368		NaN											0	0	0	1	0	35	11				
CCDC108	255101	broad.mit.edu	37	2	219900268	219900268	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:219900268C>G	uc002vjl.1	-	5	560	c.476G>C	c.(475-477)GGA>GCA	p.G159A	CCDC108_uc010zkp.1_Missense_Mutation_p.G148A|CCDC108_uc010zkq.1_Missense_Mutation_p.G94A|CCDC108_uc002vjn.2_Missense_Mutation_p.G94A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	159						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCTTTCCTAGCTCCCA	0.502		NaN											0	0	0	1	0	77	26				
ALPI	248	broad.mit.edu	37	2	233321358	233321358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:233321358G>C	uc002vst.3	+	3	330	c.253G>C	c.(253-255)GAG>CAG	p.E85Q	ALPI_uc002vsu.3_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	85					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACTGGGGCCTGAGACGCCCCT	0.607		NaN											0	0	0	1	0	13	1				
AGAP1	116987	broad.mit.edu	37	2	236957880	236957880	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:236957880A>G	uc002vvs.2	+	16	2664	c.2069A>G	c.(2068-2070)GAA>GGA	p.E690G	AGAP1_uc002vvt.2_Missense_Mutation_p.E637G	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	690	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AGCGTCTGGGAAGAGAGCAGC	0.567		NaN											0	0	0	1	0	45	11				
CSRP2BP	57325	broad.mit.edu	37	20	18123337	18123337	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:18123337C>G	uc002wqj.2	+	2	655	c.33C>G	c.(31-33)ATC>ATG	p.I11M	CSRP2BP_uc002wqk.2_5'Flank	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	11					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GTAGTCTGATCAGTCGGCATG	0.527		NaN											0	0	0	1	0	22	25				
ASXL1	171023	broad.mit.edu	37	20	30956842	30956842	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:30956842C>G	uc002wxs.2	+	3	594	c.168C>G	c.(166-168)CTC>CTG	p.L56L	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	56					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCGCATGCCTCAATGCTATGC	0.443		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	59	73				
EDEM2	55741	broad.mit.edu	37	20	33703305	33703305	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:33703305G>A	uc002xbo.2	-	11	1768	c.1668C>T	c.(1666-1668)CTC>CTT	p.L556L	EDEM2_uc010zus.1_Silent_p.L335L|EDEM2_uc002xbq.2_Silent_p.L519L|EDEM2_uc010zut.1_Silent_p.L515L|EDEM2_uc002xbp.2_Silent_p.L404L|EDEM2_uc002xbn.2_Silent_p.L404L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.L280L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	556					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGGGCAGCTGAGAAGTGGGA	0.488		NaN											0	0	0	1	0	131	193				
CEP250	11190	broad.mit.edu	37	20	34091303	34091303	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:34091303G>C	uc002xcm.2	+	31	5777	c.5106G>C	c.(5104-5106)CAG>CAC	p.Q1702H	CEP250_uc010zve.1_Missense_Mutation_p.Q1070H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1702	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGACCACTCAGAGGCAGCTGA	0.587		NaN											0	0	0	1	0	66	93				
SLA2	84174	broad.mit.edu	37	20	35243657	35243657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:35243657G>C	uc002xfv.2	-	6	865	c.503C>G	c.(502-504)TCA>TGA	p.S168*	SLA2_uc002xfu.2_Nonsense_Mutation_p.S168*	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	168	SH2.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCTGGAGTGAGGGGAAGGT	0.617		NaN											0	0	0	1	0	32	71				
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:36948673G>T	uc002xib.2	+	7	827	c.765G>T	c.(763-765)ATG>ATT	p.M255I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.468		NaN											1	0	3.86903e-22	1	4.05421e-22	30	37				
SLC32A1	140679	broad.mit.edu	37	20	37356882	37356882	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:37356882C>A	uc002xjc.2	+	2	1441	c.1178C>A	c.(1177-1179)TCC>TAC	p.S393Y		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	393	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGCTGTTGTCCTATCCTCTG	0.627		NaN											1	0	2.44723e-14	1	2.52127e-14	21	49				
SERINC3	10955	broad.mit.edu	37	20	43129838	43129838	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:43129838C>G	uc002xme.2	-	9	1293	c.1159G>C	c.(1159-1161)GAT>CAT	p.D387H	SERINC3_uc002xmf.1_Missense_Mutation_p.D387H|SERINC3_uc010ggs.1_Missense_Mutation_p.D380H|SERINC3_uc010zwp.1_Missense_Mutation_p.D332H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	387	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGCTGTCCATCTTCTTCATCA	0.517		NaN											0	0	0	1	0	70	101				
PCIF1	63935	broad.mit.edu	37	20	44571881	44571881	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:44571881C>T	uc002xqs.2	+	8	1133	c.819C>T	c.(817-819)ATC>ATT	p.I273I	PCIF1_uc002xqt.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	273						nucleus				skin(1)	1						ACATTCCTATCAGGTACAGCT	0.517		NaN											0	0	0	1	0	57	85				
PRPF6	24148	broad.mit.edu	37	20	62659061	62659061	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:62659061C>T	uc002yho.2	+	17	2479	c.2311C>T	c.(2311-2313)CTG>TTG	p.L771L	PRPF6_uc002yhp.2_Silent_p.L731L	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	771					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AAAGTCTCGTCTGAAGAACCC	0.612		NaN											0	0	0	1	0	96	88				
PRDM15	63977	broad.mit.edu	37	21	43222884	43222884	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:43222884C>G	uc002yzq.1	-	30	4140	c.4029G>C	c.(4027-4029)CAG>CAC	p.Q1343H	PRDM15_uc002yzo.2_Missense_Mutation_p.Q1014H|PRDM15_uc002yzp.2_Missense_Mutation_p.Q1034H|PRDM15_uc002yzr.1_Missense_Mutation_p.Q1034H	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTGAATGCTCTGTACTGCGG	0.527		NaN											0	0	0	1	0	116	145				
KRTAP10-10	353333	broad.mit.edu	37	21	46057969	46057969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:46057969C>T	uc002zfq.2	+	1	697	c.635C>T	c.(634-636)TCT>TTT	p.S212F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	212	15 X 5 AA repeats of C-C-X(3).					keratin filament					0						TGCGGTGCCTCTGCCTCCTCC	0.697		NaN											0	0	0	1	0	78	85				
UFD1L	7353	broad.mit.edu	37	22	19459219	19459219	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:19459219G>C	uc002zpm.2	-	4	412	c.282C>G	c.(280-282)CTC>CTG	p.L94L	UFD1L_uc002zpo.2_Silent_p.L94L|UFD1L_uc011agy.1_Silent_p.L94L|UFD1L_uc002zpp.2_Silent_p.L47L|UFD1L_uc010grq.2_Silent_p.L47L	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	94					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					CCCAGTGTGGGAGGTAGCAGA	0.572		NaN											0	0	0	1	0	26	46				
DERL3	91319	broad.mit.edu	37	22	24179997	24179997	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24179997G>A	uc002zyh.2	-	5	397	c.372C>T	c.(370-372)CTC>CTT	p.L124L	DERL3_uc002zyk.3_Silent_p.L124L|DERL3_uc002zyi.2_Silent_p.L124L|DERL3_uc002zyj.2_Intron	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN	derlin 3 isoform 2	124	Lumenal (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)	1						GCATGGCCATGAGGGCCTGGC	0.677		NaN											0	0	0	1	0	33	51				
CYTSA	23384	broad.mit.edu	37	22	24717865	24717865	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24717865G>C	uc002zzw.2	+	5	1224	c.917G>C	c.(916-918)GGA>GCA	p.G306A	CYTSA_uc002zzv.3_Missense_Mutation_p.G306A|CYTSA_uc011ajq.1_Missense_Mutation_p.G306A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	306					cell cycle|cell division						0						CAGAGCGATGGAGGAGGAACT	0.493		NaN											0	0	0	1	0	65	123				
RNF215	200312	broad.mit.edu	37	22	30780387	30780387	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30780387C>G	uc003ahp.2	-	5	685	c.685G>C	c.(685-687)GAT>CAT	p.D229H	RNF215_uc011akw.1_Missense_Mutation_p.D134H	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	229	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						CCATAGCCATCCTTGGAGAGG	0.602		NaN											0	0	0	1	0	52	79				
SEC14L2	23541	broad.mit.edu	37	22	30803141	30803141	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30803141G>C	uc003ahr.2	+	4	405	c.232G>C	c.(232-234)GAG>CAG	p.E78Q	SEC14L2_uc003ahq.2_Missense_Mutation_p.E78Q|SEC14L2_uc011akx.1_Missense_Mutation_p.E24Q|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Intron|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank|MTP18_uc010gvy.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	78	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	GCAGCCTCCAGAGGTGAGCAC	0.473		NaN											0	0	0	1	0	30	29				
DEPDC5	9681	broad.mit.edu	37	22	32269279	32269279	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:32269279C>G	uc003als.2	+	34	3573	c.3431C>G	c.(3430-3432)TCT>TGT	p.S1144C	DEPDC5_uc011als.1_Missense_Mutation_p.S1075C|DEPDC5_uc011alu.1_Missense_Mutation_p.S1175C|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1166C|DEPDC5_uc003alu.2_Missense_Mutation_p.S593C|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_3'UTR|DEPDC5_uc003alw.2_Missense_Mutation_p.S442C|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S170C|DEPDC5_uc011aly.1_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1144					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ACCTCATCCTCTACCCTGACA	0.547		NaN											0	0	0	1	0	67	117				
EP300	2033	broad.mit.edu	37	22	41489048	41489048	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:41489048A>C	uc003azl.3	+	1	435	c.40A>C	c.(40-42)AAG>CAG	p.K14Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	14	Interaction with ALX1.|Nuclear localization signal (Potential).				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GCCTTCAGCCAAGCGGCCTAA	0.547		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	1	0	128	151		Valid		
TCF20	6942	broad.mit.edu	37	22	42609617	42609617	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:42609617C>T	uc003bcj.1	-	1	1829	c.1695G>A	c.(1693-1695)CAG>CAA	p.Q565Q	TCF20_uc003bck.1_Silent_p.Q565Q|TCF20_uc003bnt.2_Silent_p.Q565Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						GGGGTTCATTCTGAGCACCTT	0.582		NaN											0	0	0	1	0	41	54				
TUBGCP6	85378	broad.mit.edu	37	22	50682166	50682166	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682166G>C	uc003bkb.1	-	1	1235	c.723C>G	c.(721-723)CTC>CTG	p.L241L	TUBGCP6_uc010har.1_Silent_p.L241L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.L241L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	241					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGCCCAGAGAGGTCCGCAT	0.522		NaN											0	0	0	1	0	36	47				
TUBGCP6	85378	broad.mit.edu	37	22	50682726	50682726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682726G>A	uc003bkb.1	-	1	675	c.163C>T	c.(163-165)CAA>TAA	p.Q55*	TUBGCP6_uc010har.1_Nonsense_Mutation_p.Q55*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Nonsense_Mutation_p.Q55*	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	55					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCAGCTGTTGAGTCTCATCT	0.532		NaN											0	0	0	1	0	61	97				
SH3BP5	9467	broad.mit.edu	37	3	15300495	15300495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:15300495C>G	uc003bzp.1	-	7	921	c.732G>C	c.(730-732)AAG>AAC	p.K244N	SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.K87N|SH3BP5_uc003bzr.1_Missense_Mutation_p.K87N|uc003bzo.1_RNA	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	244					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0						TCAGGGCCATCTTGTACTCGC	0.557		NaN											0	0	0	1	0	46	62				
EOMES	8320	broad.mit.edu	37	3	27761760	27761760	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:27761760T>C	uc003cdx.2	-	2	938	c.938A>G	c.(937-939)TAC>TGC	p.Y313C	EOMES_uc003cdy.3_Missense_Mutation_p.Y313C|EOMES_uc010hfn.2_Missense_Mutation_p.Y313C|EOMES_uc011axc.1_Missense_Mutation_p.Y18C	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	313	T-box.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						GAACACATTGTAGTGGGCAGT	0.502		NaN											0	0	0	1	0	194	234				
GOLGA4	2803	broad.mit.edu	37	3	37388779	37388779	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:37388779G>C	uc003cgv.2	+	21	6872	c.6568G>C	c.(6568-6570)GAG>CAG	p.E2190Q	GOLGA4_uc003cgw.2_Missense_Mutation_p.E2205Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E2071Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	2190	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GATGGGTCGTGAGACTAAGGT	0.373		NaN											0	0	0	1	0	70	91				
XIRP1	165904	broad.mit.edu	37	3	39226133	39226133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:39226133C>G	uc003cjk.1	-	2	5025	c.4804G>C	c.(4804-4806)GAG>CAG	p.E1602Q	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.E285Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1602							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTCCGACCTCCTGGCCTGAG	0.562		NaN											0	0	0	1	0	190	177				
CELSR3	1951	broad.mit.edu	37	3	48664109	48664109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:48664109C>T	uc003cuf.1	-	54	12241	c.12241G>A	c.(12241-12243)GAC>AAC	p.D4081N	SLC26A6_uc003cug.2_Missense_Mutation_p.D674N|SLC26A6_uc003cuh.2_Missense_Mutation_p.D695N|SLC26A6_uc010hke.2_Missense_Mutation_p.D527N|SLC26A6_uc003cuk.2_Missense_Mutation_p.D587N|SLC26A6_uc003cui.2_Missense_Mutation_p.D694N|SLC26A6_uc003cuj.2_Missense_Mutation_p.D676N|SLC26A6_uc011bbp.1_Missense_Mutation_p.D659N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCGGAAGTCATGGAAAATC	0.602		NaN											0	0	0	1	0	166	307				
USP4	7375	broad.mit.edu	37	3	49339954	49339954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49339954G>A	uc003cwq.2	-	10	1229	c.1150C>T	c.(1150-1152)CCT>TCT	p.P384S	USP4_uc003cwo.2_Missense_Mutation_p.P114S|USP4_uc003cwp.2_Missense_Mutation_p.P114S|USP4_uc003cwr.2_Missense_Mutation_p.P337S	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	384					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAAAATTGAGGAGCAAAACGT	0.388		NaN											0	0	0	1	0	49	34				
MST1	4485	broad.mit.edu	37	3	49724610	49724610	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49724610C>G	uc003cxg.2	-	5	651	c.579G>C	c.(577-579)CAG>CAC	p.Q193H	MST1_uc011bcs.1_Missense_Mutation_p.Q193H|MST1_uc010hkx.2_Missense_Mutation_p.Q114H|MST1_uc011bct.1_Missense_Mutation_p.Q193H|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	179	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCGCAGCTCTGGAAGCGCA	0.622		NaN											0	0	0	1	0	36	67				
DNAH1	25981	broad.mit.edu	37	3	52382979	52382979	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52382979G>C	uc011bef.1	+	13	2443	c.2182G>C	c.(2182-2184)GAG>CAG	p.E728Q	DNAH1_uc003ddt.1_Missense_Mutation_p.E728Q	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	728	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGGTGGAAGAGCTACGGGC	0.592		NaN											0	0	0	1	0	96	123				
NT5DC2	64943	broad.mit.edu	37	3	52561907	52561907	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52561907C>G	uc003deo.2	-	8	1186	c.762G>C	c.(760-762)CTG>CTC	p.L254L	NT5DC2_uc003dem.2_Silent_p.L124L|NT5DC2_uc003den.2_Silent_p.L291L|NT5DC2_uc010hmi.2_Silent_p.L266L|NT5DC2_uc010hmj.2_Silent_p.L70L	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	254							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAGGCGGCTCAGGACAGCAA	0.602		NaN											0	0	0	1	0	49	106				
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52613209C>T	uc003des.2	-	21	3406	c.3394G>A	c.(3394-3396)GAA>AAA	p.E1132K	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1132K|PBRM1_uc003der.2_Missense_Mutation_p.E1100K|PBRM1_uc003det.2_Missense_Mutation_p.E1147K|PBRM1_uc003deu.2_Missense_Mutation_p.E1147K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1132K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1107K|PBRM1_uc003dey.2_Missense_Mutation_p.E1107K|PBRM1_uc003dez.1_Missense_Mutation_p.E1131K	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1132					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E1132fs*27(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGACATCTTCTTTTTCCTGT	0.408		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	56	75				
PBRM1	55193	broad.mit.edu	37	3	52643597	52643597	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52643597C>G	uc003des.2	-	16	2311	c.2299G>C	c.(2299-2301)GAG>CAG	p.E767Q	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E767Q|PBRM1_uc003der.2_Missense_Mutation_p.E735Q|PBRM1_uc003det.2_Missense_Mutation_p.E782Q|PBRM1_uc003deu.2_Missense_Mutation_p.E782Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E767Q|PBRM1_uc010hmk.1_Missense_Mutation_p.E767Q|PBRM1_uc003dey.2_Missense_Mutation_p.E767Q|PBRM1_uc003dez.1_Missense_Mutation_p.E767Q|PBRM1_uc003dfb.1_Missense_Mutation_p.E680Q|PBRM1_uc003dfa.1_Missense_Mutation_p.E113Q|PBRM1_uc003dfc.2_Missense_Mutation_p.E134Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	767					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAGAGTCCTCATCTCCCTCC	0.438		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	43	25				
ITIH1	3697	broad.mit.edu	37	3	52820325	52820325	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52820325C>A	uc003dfs.2	+	13	1632	c.1608C>A	c.(1606-1608)TTC>TTA	p.F536L	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.F137L|ITIH1_uc010hmo.1_Missense_Mutation_p.F90L|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	536	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GACAAGAATTCAGTATAACCT	0.582		NaN											1	0	0.0477658	1	0.0478438	6	3				
LRIG1	26018	broad.mit.edu	37	3	66501996	66501996	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:66501996C>T	uc003dmx.2	-	3	366	c.352G>A	c.(352-354)GTC>ATC	p.V118I	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.V118I	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	118	Extracellular (Potential).|LRR 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGAGAGAGACGACATGTGAT	0.483		NaN											0	0	0	1	0	97	227				
OR5H6	79295	broad.mit.edu	37	3	97983819	97983819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:97983819C>G	uc003dsi.1	+	1	691	c.691C>G	c.(691-693)CTT>GTT	p.L231V		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	231	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						TGGAACTATTCTTATATCTTA	0.338		NaN											0	0	0	1	0	21	31				
ABI3BP	25890	broad.mit.edu	37	3	100569525	100569525	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:100569525C>G	uc003dun.2	-	14	1364	c.1279G>C	c.(1279-1281)GAA>CAA	p.E427Q	ABI3BP_uc003duo.2_Missense_Mutation_p.E469Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						CTTGGCTGTTCAAGAGTTCTA	0.358		NaN											0	0	0	1	0	32	67				
PCNP	57092	broad.mit.edu	37	3	101304305	101304305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101304305C>G	uc003dva.2	+	3	322	c.304C>G	c.(304-306)CTT>GTT	p.L102V	PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.L102V	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear	102					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0						TGTTCCAACTCTTGCTCCAAA	0.284		NaN											0	0	0	1	0	61	45				
RPL24	6152	broad.mit.edu	37	3	101399989	101399989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101399989C>T	uc003dvh.1	-	6	507	c.464G>A	c.(463-465)GGA>GAA	p.G155E	RPL24_uc003dvi.1_3'UTR	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	155					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TTAGCGTTTTCCACCAACTCG	0.378		NaN											0	0	0	1	0	151	132				
CCDC54	84692	broad.mit.edu	37	3	107096817	107096817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107096817C>G	uc003dwi.1	+	1	630	c.383C>G	c.(382-384)TCT>TGT	p.S128C		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	128	Potential.										0						GATATCCTCTCTATGAAAGAA	0.393		NaN											0	0	0	1	0	29	30				
CD47	961	broad.mit.edu	37	3	107798974	107798974	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107798974G>A	uc003dwt.1	-	2	444	c.264C>T	c.(262-264)GTC>GTT	p.V88V	CD47_uc003dwu.1_Silent_p.V88V|CD47_uc003dwv.1_Silent_p.V88V|CD47_uc003dww.1_Silent_p.V88V	NM_001777	NP_001768	Q08722	CD47_HUMAN	CD47 antigen isoform 1 precursor	88	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GTAATTGTGAGACTTCAATTT	0.383		NaN											0	0	0	1	0	62	104				
MYH15	22989	broad.mit.edu	37	3	108163567	108163567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:108163567C>G	uc003dxa.1	-	23	2692	c.2635G>C	c.(2635-2637)GAG>CAG	p.E879Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	879	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CTCTGAAACTCTGATTTCTCC	0.438		NaN											0	0	0	1	0	97	78				
UPK1B	7348	broad.mit.edu	37	3	118906732	118906732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:118906732G>A	uc003ecc.2	+	3	269	c.180G>A	c.(178-180)TGG>TGA	p.W60*	UPK1B_uc011bix.1_5'UTR|UPK1B_uc003ecd.2_Nonsense_Mutation_p.W60*	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	60	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		GGGCTGCCTGGATCGGCATAT	0.517		NaN											0	0	0	1	0	71	153				
POLQ	10721	broad.mit.edu	37	3	121179028	121179028	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121179028G>A	uc003eee.3	-	25	7150	c.7021C>T	c.(7021-7023)CAT>TAT	p.H2341Y	POLQ_uc003eed.2_Missense_Mutation_p.H1513Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2341					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGGGATAAATGAGCCAAGATC	0.428		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	72	63				
POLQ	10721	broad.mit.edu	37	3	121187223	121187223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121187223G>C	uc003eee.3	-	23	6903	c.6774C>G	c.(6772-6774)ATC>ATG	p.I2258M	POLQ_uc003eed.2_Missense_Mutation_p.I1430M	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2258					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TTGGCATTTTGATTTCAAAAT	0.383		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	81	140				
CD86	942	broad.mit.edu	37	3	121822489	121822489	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121822489G>C	uc003eet.2	+	3	311	c.195G>C	c.(193-195)CTG>CTC	p.L65L	CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Silent_p.L59L	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	65	Ig-like V-type.|Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACTTGGTTCTGAATGAGGTAT	0.438		NaN											0	0	0	1	0	110	108				
ADCY5	111	broad.mit.edu	37	3	123019119	123019119	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:123019119G>A	uc003egh.1	-	15	2748	c.2748C>T	c.(2746-2748)CTC>CTT	p.L916L	ADCY5_uc003egg.1_Silent_p.L549L|ADCY5_uc003egi.1_Silent_p.L475L	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	916	Helical; (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CCAGCAGGCTGAGCAGCACGC	0.652		NaN											0	0	0	1	0	44	40				
COL6A6	131873	broad.mit.edu	37	3	130287162	130287162	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:130287162G>C	uc010htl.2	+	5	2146	c.2115G>C	c.(2113-2115)CTG>CTC	p.L705L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	705	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GTAGTGCCCTGAGCTTTGTGT	0.488		NaN											0	0	0	1	0	124	102				
PCOLCE2	26577	broad.mit.edu	37	3	142557645	142557645	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:142557645C>G	uc003evd.2	-	5	873	c.677G>C	c.(676-678)AGA>ACA	p.R226T		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	226	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CTTTCCAATTCTTCTAGCATC	0.383		NaN											0	0	0	1	0	73	83				
CPA3	1359	broad.mit.edu	37	3	148596271	148596271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148596271G>C	uc003ewm.2	+	4	365	c.313G>C	c.(313-315)GAT>CAT	p.D105H		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	105					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAAACAGTTTGATGTTAAAGA	0.338		NaN											0	0	0	1	0	86	66				
HPS3	84343	broad.mit.edu	37	3	148876575	148876575	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148876575G>A	uc003ewu.1	+	10	1954	c.1814G>A	c.(1813-1815)GGA>GAA	p.G605E	HPS3_uc011bnq.1_Missense_Mutation_p.G440E|HPS3_uc003ewv.1_5'Flank	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	605						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TACGAGAGAGGATTAATCTTT	0.348		NaN							Hermansky-Pudlak_syndrome				0	0	0	1	0	45	84				
KPNA4	3840	broad.mit.edu	37	3	160253311	160253311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:160253311G>A	uc003fdn.2	-	5	583	c.277C>T	c.(277-279)CAA>TAA	p.Q93*		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4	93	ARM 1; truncated.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTAGCAGCTTGAACTGCACTT	0.303		NaN											0	0	0	1	0	31	22				
FNDC3B	64778	broad.mit.edu	37	3	172061902	172061902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:172061902G>A	uc003fhy.2	+	19	2276	c.2104G>A	c.(2104-2106)GAG>AAG	p.E702K	FNDC3B_uc003fhz.3_Missense_Mutation_p.E702K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	702	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGTGGCTGTGAGGTCTCAGA	0.517		NaN											0	0	0	1	0	148	132				
AP2M1	1173	broad.mit.edu	37	3	183898646	183898646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:183898646G>A	uc011bqx.1	+	6	596	c.439G>A	c.(439-441)GAG>AAG	p.E147K	AP2M1_uc003fmw.2_Missense_Mutation_p.E145K|AP2M1_uc003fmx.2_Missense_Mutation_p.E145K|AP2M1_uc003fmy.2_Missense_Mutation_p.E145K|AP2M1_uc011bqy.1_Missense_Mutation_p.E17K|AP2M1_uc011bqz.1_5'UTR	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	147					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAAAGAAGAGCAGTCACA	0.522		NaN											0	0	0	1	0	238	250				
LEPREL1	55214	broad.mit.edu	37	3	189690804	189690804	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:189690804C>T	uc011bsk.1	-	11	1946	c.1558G>A	c.(1558-1560)GAA>AAA	p.E520K	LEPREL1_uc003fsg.2_Missense_Mutation_p.E339K	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	520					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTCGACCTTCATAACCAGAC	0.398		NaN											0	0	0	1	0	40	38				
RNF168	165918	broad.mit.edu	37	3	196199142	196199142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:196199142C>T	uc003fwq.2	-	6	1802	c.1264G>A	c.(1264-1266)GAA>AAA	p.E422K	RNF168_uc010iah.2_Missense_Mutation_p.E255K|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	422					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AAGTTTATTTCTGTTTCCTCT	0.378		NaN											0	0	0	1	0	85	102				
PIGG	54872	broad.mit.edu	37	4	517589	517589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:517589G>A	uc003gak.3	+	9	2092	c.1956G>A	c.(1954-1956)TGG>TGA	p.W652*	PIGG_uc003gaj.3_Nonsense_Mutation_p.W644*|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Nonsense_Mutation_p.W519*|PIGG_uc003gal.3_Nonsense_Mutation_p.W563*	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	652					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GCGAGAAGTGGATGGTGCTGG	0.657		NaN											0	0	0	1	0	28	15				
WHSC1	7468	broad.mit.edu	37	4	1918624	1918624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:1918624C>T	uc003gdz.3	+	4	963	c.787C>T	c.(787-789)CAC>TAC	p.H263Y	WHSC1_uc003geb.3_Missense_Mutation_p.H263Y|WHSC1_uc003gec.3_Missense_Mutation_p.H263Y|WHSC1_uc003ged.3_Missense_Mutation_p.H263Y|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.H263Y|WHSC1_uc003gdy.1_Missense_Mutation_p.H263Y|WHSC1_uc010icd.1_Missense_Mutation_p.H263Y|WHSC1_uc003gea.1_Missense_Mutation_p.H263Y|WHSC1_uc010ice.1_Missense_Mutation_p.H263Y|WHSC1_uc003geh.1_Missense_Mutation_p.H263Y	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	263	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACGCCAGTATCACGTACAGTT	0.383		NaN	T	IGH@	MM								0	0	0	1	0	22	27				
HTT	3064	broad.mit.edu	37	4	3208581	3208581	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3208581C>G	uc011bvq.1	+	45	6097	c.5952C>G	c.(5950-5952)CTC>CTG	p.L1984L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1982					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATCCATCTCAGCCAGTCGG	0.507		NaN											0	0	0	1	0	49	45				
RGS12	6002	broad.mit.edu	37	4	3432571	3432571	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3432571G>C	uc003ggw.2	+	17	4907	c.4003G>C	c.(4003-4005)GAG>CAG	p.E1335Q	RGS12_uc003ggv.2_Missense_Mutation_p.E1335Q|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.E687Q|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.E677Q|RGS12_uc010icv.2_Missense_Mutation_p.E534Q	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1335						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTGGAGGATGAGCACGTGGC	0.692		NaN											0	0	0	1	0	34	44				
EVC	2121	broad.mit.edu	37	4	5806484	5806484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:5806484G>A	uc003gil.1	+	17	2661	c.2477G>A	c.(2476-2478)CGG>CAG	p.R826Q	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	826					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TACAAACTGCGGAAAAAGCAA	0.557		NaN											0	0	0	1	0	55	40				
GRPEL1	80273	broad.mit.edu	37	4	7065824	7065824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:7065824C>A	uc003gjy.1	-	2	230	c.189G>T	c.(187-189)GAG>GAT	p.E63D	GRPEL1_uc003gjz.1_Missense_Mutation_p.E63D	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	63					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						ACTTGACCTTCTCTTCCAGGA	0.552		NaN											1	0	4.09171e-25	1	4.31707e-25	57	35				
SLC2A9	56606	broad.mit.edu	37	4	9987351	9987351	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:9987351G>A	uc003gmc.2	-	4	538	c.477C>T	c.(475-477)CTC>CTT	p.L159L	SLC2A9_uc003gmd.2_Silent_p.L130L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	159	Helical; Name=3; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						CTCCTGCCTGGAGCGAGCAGG	0.448		NaN											0	0	0	1	0	20	67				
LRRC66	339977	broad.mit.edu	37	4	52861441	52861441	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:52861441C>G	uc003gzi.2	-	4	1760	c.1747G>C	c.(1747-1749)GAA>CAA	p.E583Q		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	583						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTGTTATTTCTCCGGAGAGG	0.498		NaN											0	0	0	1	0	41	93				
PDGFRA	5156	broad.mit.edu	37	4	55161411	55161411	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:55161411C>T	uc003han.3	+	23	3573	c.3242C>T	c.(3241-3243)TCA>TTA	p.S1081L	PDGFRA_uc003haa.2_Missense_Mutation_p.S841L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	1081	Ser-rich.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATAGACTCTTCAGACCTGGTG	0.517		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	1	0	33	100				
EXOC1	55763	broad.mit.edu	37	4	56750054	56750054	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:56750054G>C	uc003hbe.1	+	10	1448	c.1290G>C	c.(1288-1290)AAG>AAC	p.K430N	EXOC1_uc003hbf.1_Missense_Mutation_p.K430N|EXOC1_uc003hbg.1_Missense_Mutation_p.K430N	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	430					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTGCAAAGATCAAGATGA	0.284		NaN											0	0	0	1	0	20	21				
RUFY3	22902	broad.mit.edu	37	4	71588434	71588434	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71588434C>G	uc003hfq.2	+	1	739	c.144C>G	c.(142-144)ATC>ATG	p.I48M	RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Missense_Mutation_p.I48M|RUFY3_uc003hfr.2_Missense_Mutation_p.I48M	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	48					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			TGGATGACATCTCACTTACAC	0.527		NaN											0	0	0	1	0	67	59				
RUFY3	22902	broad.mit.edu	37	4	71634327	71634327	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71634327G>C	uc003hfq.2	+	5	1240	c.645G>C	c.(643-645)CTG>CTC	p.L215L	RUFY3_uc003hfp.3_Silent_p.L275L|RUFY3_uc011cax.1_Silent_p.L233L|RUFY3_uc003hfr.2_Silent_p.L215L|RUFY3_uc011cay.1_Silent_p.L151L	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	215	RUN.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			TGGTGGGTCTGAATGTCATTG	0.438		NaN											0	0	0	1	0	70	69				
FRAS1	80144	broad.mit.edu	37	4	79400752	79400752	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:79400752G>C	uc003hlb.2	+	56	8763	c.8323G>C	c.(8323-8325)GAT>CAT	p.D2775H		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2770	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGCCTTGGCAGATGCCTCTGA	0.527		NaN											0	0	0	1	0	28	49				
HPSE	10855	broad.mit.edu	37	4	84223345	84223345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:84223345C>T	uc003hoj.3	-	10	1382	c.1283G>A	c.(1282-1284)AGA>AAA	p.R428K	HPSE_uc010ika.2_Missense_Mutation_p.R370K|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R171K|HPSE_uc011cct.1_Missense_Mutation_p.R354K|HPSE_uc003hok.3_Missense_Mutation_p.R428K	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	428					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAGCTTCCTTCTCTTTGAACC	0.423		NaN											0	0	0	1	0	31	61				
SPP1	6696	broad.mit.edu	37	4	88902684	88902684	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:88902684G>T	uc003hra.2	+	6	439	c.274G>T	c.(274-276)GAT>TAT	p.D92Y	SPP1_uc003hrb.2_Missense_Mutation_p.D65Y|SPP1_uc003hrc.2_Missense_Mutation_p.D78Y|SPP1_uc011cde.1_Missense_Mutation_p.D105Y|SPP1_uc003hrd.2_Missense_Mutation_p.D51Y	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	92					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGATGATGAAGATGATGATGA	0.428		NaN											1	0	3.41882e-60	1	3.66387e-60	128	91				
FAM190A	401145	broad.mit.edu	37	4	91230191	91230191	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:91230191C>G	uc003hsv.3	+	2	1096	c.756C>G	c.(754-756)ACC>ACG	p.T252T	FAM190A_uc003hsu.3_Silent_p.T252T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.T252T	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	252										large_intestine(1)|ovary(1)	2						CTGATCTTACCACAGCTCAGA	0.438		NaN											0	0	0	1	0	32	57				
PDLIM5	10611	broad.mit.edu	37	4	95583676	95583676	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:95583676C>T	uc003hti.2	+	12	1840	c.1689C>T	c.(1687-1689)TGC>TGT	p.C563C	PDLIM5_uc011cdx.1_Silent_p.C460C|PDLIM5_uc003hth.2_Silent_p.C454C|PDLIM5_uc003htj.2_Silent_p.C238C|PDLIM5_uc003htk.2_Silent_p.C592C|PDLIM5_uc011cdy.1_Silent_p.C441C|PDLIM5_uc003htl.2_Silent_p.C238C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	563	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGACACTTGCTTTGTATGCT	0.408		NaN											0	0	0	1	0	57	27				
NHEDC1	150159	broad.mit.edu	37	4	103832596	103832596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:103832596C>T	uc003hww.2	-	8	1050	c.928G>A	c.(928-930)GAA>AAA	p.E310K	NHEDC1_uc003hwu.2_Missense_Mutation_p.E310K|NHEDC1_uc010ilm.2_Missense_Mutation_p.E77K|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Missense_Mutation_p.E83K	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	310						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		ACCTGGTCTTCACTTGGAAAA	0.299		NaN											0	0	0	1	0	17	34				
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:107845202C>T	uc003hyi.2	-	4	1394	c.689G>A	c.(688-690)CGT>CAT	p.R230H	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488		NaN											0	0	0	1	0	47	100				
SGMS2	166929	broad.mit.edu	37	4	108824404	108824404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:108824404C>T	uc003hyl.3	+	5	1144	c.589C>T	c.(589-591)CAG>TAG	p.Q197*	uc003hym.1_Intron|SGMS2_uc003hyn.2_Nonsense_Mutation_p.Q197*|SGMS2_uc003hyo.2_Nonsense_Mutation_p.Q197*	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	197					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TGGAGACTCTCAGGCAAAAGT	0.408		NaN											0	0	0	1	0	49	133				
NDST4	64579	broad.mit.edu	37	4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:115750948C>G	uc003ibu.2	-	13	3176	c.2497G>C	c.(2497-2499)GAG>CAG	p.E833Q	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	833	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTATTACCTCTGGATCCATA	0.343		NaN											0	0	0	1	0	32	13				
EXOSC9	5393	broad.mit.edu	37	4	122737544	122737544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:122737544G>C	uc003iea.2	+	11	1285	c.1177G>C	c.(1177-1179)GAT>CAT	p.D393H	EXOSC9_uc003idz.2_Missense_Mutation_p.D410H|EXOSC9_uc003ieb.2_Missense_Mutation_p.D377H	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	393					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						AATACTCTCAGATAGTGAAGA	0.244		NaN											0	0	0	1	0	14	36				
MFSD8	256471	broad.mit.edu	37	4	128878746	128878746	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:128878746C>G	uc003ifp.2	-	3	227	c.64G>C	c.(64-66)GAA>CAA	p.E22Q	MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Missense_Mutation_p.E22Q|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	22	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						ATGTCCCATTCTCTAGGTGTA	0.308		NaN											0	0	0	1	0	59	55				
GUCY1B3	2983	broad.mit.edu	37	4	156726374	156726374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:156726374G>C	uc003ipc.2	+	13	1996	c.1829G>C	c.(1828-1830)GGA>GCA	p.G610A	GUCY1B3_uc011cio.1_Missense_Mutation_p.G632A|GUCY1B3_uc011cip.1_Missense_Mutation_p.G590A|GUCY1B3_uc003ipd.2_Missense_Mutation_p.G538A|GUCY1B3_uc010iqf.2_Missense_Mutation_p.G577A|GUCY1B3_uc010iqg.2_Missense_Mutation_p.G581A|GUCY1B3_uc011ciq.1_Missense_Mutation_p.G538A	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	610					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAAATACAGGAACAGAGGTA	0.358		NaN											0	0	0	1	0	11	2				
DDX60	55601	broad.mit.edu	37	4	169204637	169204637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:169204637G>C	uc003irp.2	-	13	1974	c.1682C>G	c.(1681-1683)TCA>TGA	p.S561*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	561							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCTTCTTTGACTTAATAGT	0.333		NaN											0	0	0	1	0	28	25				
SH3RF1	57630	broad.mit.edu	37	4	170028027	170028027	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:170028027C>G	uc003isa.1	-	11	2804	c.2469G>C	c.(2467-2469)TTG>TTC	p.L823F		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	823						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACTCATTCAAGACAGGAC	0.483		NaN											0	0	0	1	0	61	54				
ADCY2	108	broad.mit.edu	37	5	7414837	7414837	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:7414837G>T	uc003jdz.1	+	2	429	c.362G>T	c.(361-363)GGA>GTA	p.G121V		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	121	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GTTGCCATGGGATACCTGTTC	0.428		NaN											1	0	8.16721e-17	1	8.45692e-17	33	31				
SEMA5A	9037	broad.mit.edu	37	5	9066645	9066645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:9066645G>C	uc003jek.2	-	17	2899	c.2187C>G	c.(2185-2187)TTC>TTG	p.F729L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	729	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ATGTGTATCGGAATCGTTGCT	0.557		NaN											0	0	0	1	0	129	79				
MYO10	4651	broad.mit.edu	37	5	16668556	16668556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:16668556G>A	uc003jft.3	-	40	6373	c.5905C>T	c.(5905-5907)CAG>TAG	p.Q1969*	MYO10_uc011cnb.1_Nonsense_Mutation_p.Q598*|MYO10_uc011cnc.1_Nonsense_Mutation_p.Q848*|MYO10_uc011cnd.1_Nonsense_Mutation_p.Q1326*|MYO10_uc011cne.1_Nonsense_Mutation_p.Q1326*|MYO10_uc010itx.2_Nonsense_Mutation_p.Q1591*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1969	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CAGAGTTCCTGAGGGAAGCCA	0.512		NaN											0	0	0	1	0	15	9				
OSMR	9180	broad.mit.edu	37	5	38884065	38884065	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:38884065G>A	uc003jln.1	+	5	922	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q	OSMR_uc003jlm.1_Silent_p.Q185Q	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	185	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					AAGGGAAACAGATTCATGGAG	0.373		NaN											0	0	0	1	0	62	27				
PAIP1	10605	broad.mit.edu	37	5	43543211	43543211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:43543211G>C	uc003job.2	-	4	876	c.629C>G	c.(628-630)TCT>TGT	p.S210C	PAIP1_uc003joa.2_Missense_Mutation_p.S131C|PAIP1_uc010ivp.2_Missense_Mutation_p.S131C|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.S98C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	210	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATTTGGGATAGATGTGGCCTT	0.358		NaN											0	0	0	1	0	22	17		Valid		
C5orf35	133383	broad.mit.edu	37	5	56207012	56207012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:56207012C>G	uc003jqx.2	+	2	488	c.115C>G	c.(115-117)CCA>GCA	p.P39A	C5orf35_uc003jqy.2_Intron	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	39										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		CCGATATGTTCCAGAGGAATC	0.383		NaN											0	0	0	1	0	41	23				
MAST4	375449	broad.mit.edu	37	5	66459046	66459046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:66459046C>G	uc003jut.1	+	28	3540	c.3472C>G	c.(3472-3474)CGG>GGG	p.R1158G	MAST4_uc003juw.2_Missense_Mutation_p.R1086G|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1350						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGGCACATCCGGCCCAGCAC	0.632		NaN											0	0	0	1	0	66	255				
BDP1	55814	broad.mit.edu	37	5	70855922	70855922	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:70855922C>T	uc003kbp.1	+	37	7617	c.7354C>T	c.(7354-7356)CCT>TCT	p.P2452S	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2452					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCTAGATCTCCTGATGCATG	0.438		NaN											0	0	0	1	0	49	34				
TNPO1	3842	broad.mit.edu	37	5	72188999	72188999	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:72188999G>A	uc003kck.3	+	16	1969	c.1822G>A	c.(1822-1824)GGA>AGA	p.G608R	TNPO1_uc011csj.1_Missense_Mutation_p.G558R|TNPO1_uc003kch.2_Missense_Mutation_p.G600R|TNPO1_uc003kci.3_Missense_Mutation_p.G600R|TNPO1_uc003kcg.3_Missense_Mutation_p.G600R	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	608					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACTGCAGTCTGGATTCCTTCC	0.398		NaN											0	0	0	1	0	46	140				
THBS4	7060	broad.mit.edu	37	5	79366148	79366148	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:79366148G>C	uc003kgh.2	+	12	1690	c.1367G>C	c.(1366-1368)GGA>GCA	p.G456A	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	456	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTTGGGCTGGAGATGGCTAT	0.562		NaN											0	0	0	1	0	15	76				
MSH3	4437	broad.mit.edu	37	5	80150118	80150118	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80150118G>C	uc003kgz.2	+	21	3236	c.2983G>C	c.(2983-2985)GAG>CAG	p.E995Q		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	995					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCTACACTTGAGTATTTCAT	0.289		NaN						MMR					0	0	0	1	0	35	106				
RASGRF2	5924	broad.mit.edu	37	5	80422972	80422972	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80422972G>C	uc003kha.1	+	17	2676	c.2676G>C	c.(2674-2676)GGG>GGC	p.G892G	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	892					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAGGACATGGGAGTCCACCAG	0.493		NaN											0	0	0	1	0	17	53				
CETN3	1070	broad.mit.edu	37	5	89701566	89701566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89701566C>G	uc003kjo.2	-	3	329	c.204G>C	c.(202-204)AAG>AAC	p.K68N		NM_004365	NP_004356	O15182	CETN3_HUMAN	centrin 3	68	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding				0		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CTTTAAGAATCTTCAGTACAT	0.338		NaN											0	0	0	1	0	38	35				
GPR98	84059	broad.mit.edu	37	5	89943435	89943435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89943435G>A	uc003kju.2	+	17	3239	c.3143G>A	c.(3142-3144)AGA>AAA	p.R1048K	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1048	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTACTGCAAGAGAGAGAGAT	0.423		NaN											0	0	0	1	0	36	92				
FAM170A	340069	broad.mit.edu	37	5	118965403	118965403	+	Translation_Start_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:118965403C>G	uc003ksm.2	+	1	150	c.-60C>G	c.(-62--58)ATCTA>ATGTA		FAM170A_uc003ksl.2_Translation_Start_Site|FAM170A_uc003ksn.2_Translation_Start_Site|FAM170A_uc003kso.2_Translation_Start_Site	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A							intracellular	zinc ion binding			skin(1)	1						AAGGGCCAATCTACAGGAAAA	0.398		NaN											0	0	0	1	0	25	26				
LMNB1	4001	broad.mit.edu	37	5	126147468	126147468	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:126147468G>C	uc003kud.1	+	5	1185	c.817G>C	c.(817-819)GAG>CAG	p.E273Q	LMNB1_uc003kuc.2_Missense_Mutation_p.E273Q|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.E63Q	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	273	Rod.|Coil 2.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTTTTAGCTTGAGAATGCCAG	0.423		NaN											0	0	0	1	0	30	28				
AFF4	27125	broad.mit.edu	37	5	132270097	132270097	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:132270097C>A	uc003kyd.2	-	3	1068	c.660G>T	c.(658-660)TGG>TGT	p.W220C	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.W220C|AFF4_uc003kyf.3_Missense_Mutation_p.W220C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	220	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAGAATCCCAGTTTGCAT	0.448		NaN											1	0	9.17885e-22	1	9.56911e-22	33	49				
PCDHA5	56143	broad.mit.edu	37	5	140202695	140202695	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140202695C>A	uc003lhl.2	+	1	1335	c.1335C>A	c.(1333-1335)GCC>GCA	p.A445A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A445A|PCDHA5_uc003lhj.1_Silent_p.A445A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	445	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGTGGCCGACGTGAACG	0.657		NaN											1	0	4.21487e-37	1	4.48562e-37	89	71				
PCDHB13	56123	broad.mit.edu	37	5	140595757	140595757	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140595757G>A	uc003lja.1	+	1	2249	c.2062G>A	c.(2062-2064)GTC>ATC	p.V688I		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	688	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGCTCACCGTCTACCTGGT	0.687		NaN											0	0	0	1	0	89	168				
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:150934193G>A	uc003lue.3	-	4	3688	c.3675C>T	c.(3673-3675)ACC>ACT	p.T1225T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1225	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517		NaN											0	0	0	1	0	37	99				
GEMIN5	25929	broad.mit.edu	37	5	154267890	154267890	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:154267890G>T	uc003lvx.3	-	28	4490	c.4407C>A	c.(4405-4407)CTC>CTA	p.L1469L	GEMIN5_uc011ddk.1_Silent_p.L1468L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1469					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGACCTGATGAGAAGCAGGA	0.527		NaN											1	0	9.16793e-09	1	9.31997e-09	16	59				
ODZ2	57451	broad.mit.edu	37	5	167631499	167631499	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:167631499G>A	uc010jjd.2	+	19	3670	c.3670G>A	c.(3670-3672)GAA>AAA	p.E1224K	ODZ2_uc003lzr.3_Missense_Mutation_p.E1001K|ODZ2_uc003lzt.3_Missense_Mutation_p.E597K|ODZ2_uc010jje.2_Missense_Mutation_p.E495K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGGCCTTGCTGAAGGCAACAA	0.577		NaN											0	0	0	1	0	18	42				
DOCK2	1794	broad.mit.edu	37	5	169502984	169502984	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:169502984G>A	uc003maf.2	+	47	4842	c.4762G>A	c.(4762-4764)GAG>AAG	p.E1588K	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E1080K|DOCK2_uc003mah.2_Missense_Mutation_p.E144K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1588	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGATCCATGAGAAAAGGGT	0.532		NaN											0	0	0	1	0	40	118				
NKX2-5	1482	broad.mit.edu	37	5	172660109	172660109	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:172660109C>T	uc003mcm.1	-	2	614	c.438G>A	c.(436-438)TCG>TCA	p.S146S	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	146	Homeobox.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCGCCTGCGAGAAGAGCA	0.692		NaN											0	0	0	1	0	8	5				
CPEB4	80315	broad.mit.edu	37	5	173316947	173316947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:173316947C>G	uc003mcs.3	+	1	1617	c.211C>G	c.(211-213)CAG>GAG	p.Q71E	CPEB4_uc010jju.1_Missense_Mutation_p.Q71E|CPEB4_uc010jjv.2_Missense_Mutation_p.Q71E|CPEB4_uc011dfg.1_Missense_Mutation_p.Q71E	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	71							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCATAACATTCAGGATGAGAT	0.498		NaN											0	0	0	1	0	111	83				
CANX	821	broad.mit.edu	37	5	179143168	179143168	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:179143168C>T	uc003mkk.2	+	8	961	c.784C>T	c.(784-786)CTG>TTG	p.L262L	CANX_uc011dgp.1_Silent_p.L297L|CANX_uc010jlb.1_Silent_p.L198L|CANX_uc003mkl.2_Silent_p.L262L|CANX_uc011dgq.1_Silent_p.L154L	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	262	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGTGGAAATCTGCTCAATGA	0.388		NaN											0	0	0	1	0	61	57				
HIVEP1	3096	broad.mit.edu	37	6	12122571	12122571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122571C>T	uc003nac.2	+	4	2722	c.2543C>T	c.(2542-2544)TCA>TTA	p.S848L	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGTTATTCAGCAGTACCT	0.398		NaN											0	0	0	1	0	39	107				
HIVEP1	3096	broad.mit.edu	37	6	12122603	12122603	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122603C>T	uc003nac.2	+	4	2754	c.2575C>T	c.(2575-2577)CAT>TAT	p.H859Y	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	859					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCTCCTCCTCATCCACTAAG	0.443		NaN											0	0	0	1	0	36	91				
HIVEP1	3096	broad.mit.edu	37	6	12122781	12122781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122781C>G	uc003nac.2	+	4	2932	c.2753C>G	c.(2752-2754)TCC>TGC	p.S918C	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	918					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTGGACAGTCCCTGGATGAG	0.517		NaN											0	0	0	1	0	10	33				
HIVEP1	3096	broad.mit.edu	37	6	12123600	12123600	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123600C>T	uc003nac.2	+	4	3751	c.3572C>T	c.(3571-3573)TCT>TTT	p.S1191F	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1191					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGACGGGTCTCATCCTCAC	0.512		NaN											0	0	0	1	0	3	30				
HIVEP1	3096	broad.mit.edu	37	6	12123624	12123624	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123624C>G	uc003nac.2	+	4	3775	c.3596C>G	c.(3595-3597)TCA>TGA	p.S1199*	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1199					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCACTATCAGACGCTCTC	0.512		NaN											0	0	0	1	0	4	31				
HIVEP1	3096	broad.mit.edu	37	6	12123634	12123634	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123634C>T	uc003nac.2	+	4	3785	c.3606C>T	c.(3604-3606)CTC>CTT	p.L1202L	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1202					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGACGCTCTCAGAGGAGAAC	0.517		NaN											0	0	0	1	0	3	34				
RNF182	221687	broad.mit.edu	37	6	13977385	13977385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:13977385C>G	uc003nbe.2	+	3	453	c.35C>G	c.(34-36)TCT>TGT	p.S12C	RNF182_uc003nbf.2_Missense_Mutation_p.S12C|RNF182_uc003nbg.2_Missense_Mutation_p.S12C	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	12						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			ACTGCGGAGTCTCAGGCCTCT	0.468		NaN											0	0	0	1	0	45	100				
KIF13A	63971	broad.mit.edu	37	6	17771434	17771434	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:17771434G>C	uc003ncg.3	-	38	4597	c.4492C>G	c.(4492-4494)CAG>GAG	p.Q1498E	KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Intron|KIF13A_uc003nci.3_Intron|KIF13A_uc003nce.1_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1498					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATGTGCCTGAGGTGGAGGC	0.458		NaN											0	0	0	1	0	8	17				
LRRC16A	55604	broad.mit.edu	37	6	25619782	25619782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:25619782G>A	uc011djw.1	+	37	4463	c.4087G>A	c.(4087-4089)GAA>AAA	p.E1363K	LRRC16A_uc010jpx.2_Missense_Mutation_p.E1318K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1357K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1363					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CTCCGGGGAAGAAGCAGAAAA	0.498		NaN											0	0	0	1	0	62	45				
ZNF322A	79692	broad.mit.edu	37	6	26637743	26637743	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:26637743C>G	uc003nil.3	-	4	1668	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						TGTAGCTCCTCTGTTTGAGTT	0.428		NaN											0	0	0	1	0	63	101				
FKSG83	83954	broad.mit.edu	37	6	27293278	27293278	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:27293278C>G	uc010jqt.2	+	1	701	c.217C>G	c.(217-219)CAT>GAT	p.H73D	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN	FKSG83	73						integral to membrane	pheromone receptor activity				0						GACGGTCTTTCATATTCACAG	0.398		NaN											0	0	0	1	0	72	67				
GNL1	2794	broad.mit.edu	37	6	30514513	30514513	+	Silent	SNP	G	G	A	rs5875262		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30514513G>A	uc003nqh.2	-	11	2570	c.1542C>T	c.(1540-1542)CTC>CTT	p.L514L	GNL1_uc011dmi.1_Silent_p.L311L|GNL1_uc011dmj.1_Silent_p.L512L|GNL1_uc011dmk.1_Silent_p.L169L	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	514				L -> V (in Ref. 1; AAA66492).	response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						AACACAGGCTGAGGCGGCCGT	0.507		NaN											0	0	0	1	0	28	83				
MDC1	9656	broad.mit.edu	37	6	30672146	30672146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30672146G>C	uc003nrg.3	-	10	5254	c.4814C>G	c.(4813-4815)TCT>TGT	p.S1605C	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1212C	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1605	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GGTCTTGACAGAGGACCTATT	0.602		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	1	0	91	86				
MDC1	9656	broad.mit.edu	37	6	30673848	30673848	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30673848G>C	uc003nrg.3	-	10	3552	c.3112C>G	c.(3112-3114)CTG>GTG	p.L1038V	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.L645V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1038	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GTAGGAGGCAGACAAGCATCT	0.517		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	1	0	41	35				
BAT5	7920	broad.mit.edu	37	6	31669889	31669889	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31669889G>A	uc003nvy.1	-	2	181	c.151C>T	c.(151-153)CGT>TGT	p.R51C	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Intron|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_Intron|BAT5_uc011doa.1_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	51						integral to membrane	hydrolase activity|protein binding				0						TCCAGGGCACGGGGCTGATAG	0.547		NaN											0	0	0	1	0	19	54				
TNXB	7148	broad.mit.edu	37	6	32046817	32046817	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32046817G>A	uc003nzl.2	-	11	4570	c.4368C>T	c.(4366-4368)GGC>GGT	p.G1456G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1543					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CACCTGTCACGCCCACGGCGG	0.662		NaN											0	0	0	1	0	47	27				
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32977305G>C	uc003ocr.2	-	1	85	c.9C>G	c.(7-9)CTC>CTG	p.L3L	HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	3					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GCCCTGCTCTGAGGGCCATTA	0.587		NaN											0	0	0	1	0	5	12				
ANKS1A	23294	broad.mit.edu	37	6	34985275	34985275	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:34985275G>C	uc003ojx.3	+	11	1591	c.1449G>C	c.(1447-1449)CGG>CGC	p.R483R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R23R|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	483						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						GCAGCAGCCGGAGCCAGGACT	0.592		NaN											0	0	0	1	0	70	54				
MAPK14	1432	broad.mit.edu	37	6	36020527	36020527	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36020527C>T	uc003olp.2	+	2	649	c.168C>T	c.(166-168)TCC>TCT	p.S56S	MAPK14_uc011dth.1_Silent_p.S56S|MAPK14_uc003olo.2_Silent_p.S56S|MAPK14_uc003olq.2_Silent_p.S56S|MAPK14_uc003olr.2_Silent_p.S56S|MAPK14_uc011dti.1_5'UTR	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1	56	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						AGAAGCTCTCCAGACCATTTC	0.383		NaN											0	0	0	1	0	32	93				
PPIL1	51645	broad.mit.edu	37	6	36823787	36823787	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36823787G>A	uc003omu.2	-	4	555	c.303C>T	c.(301-303)GCC>GCT	p.A101A		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	101	PPIase cyclophilin-type.|Cyclosporin A binding.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GCCCCGCATTGGCCATTGCGA	0.552		NaN											0	0	0	1	0	23	23				
LRFN2	57497	broad.mit.edu	37	6	40399707	40399707	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:40399707G>C	uc003oph.1	-	2	1611	c.1146C>G	c.(1144-1146)CTC>CTG	p.L382L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	382	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCTGTTGCTGAGGTGTGGCA	0.652		NaN											0	0	0	1	0	23	50				
PRPH2	5961	broad.mit.edu	37	6	42689881	42689881	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:42689881C>G	uc003osk.2	-	1	478	c.192G>C	c.(190-192)TTG>TTC	p.L64F		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	64	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCATCCCTATCAATGAGTTGG	0.517		NaN											0	0	0	1	0	78	70				
ME1	4199	broad.mit.edu	37	6	84108173	84108173	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:84108173G>C	uc003pjy.2	-	3	381	c.275C>G	c.(274-276)TCT>TGT	p.S92C	ME1_uc011dzb.1_Missense_Mutation_p.S17C|ME1_uc011dzc.1_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	92					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTCAATGTCAGATGTCAGCAC	0.363		NaN											0	0	0	1	0	14	54				
MDN1	23195	broad.mit.edu	37	6	90425454	90425454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:90425454C>G	uc003pnn.1	-	45	6894	c.6778G>C	c.(6778-6780)GAA>CAA	p.E2260Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2260					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCCGGGTTCAAGCAAAGCA	0.448		NaN											0	0	0	1	0	28	107				
PREP	5550	broad.mit.edu	37	6	105825294	105825294	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:105825294G>A	uc003prc.2	-	3	424	c.221C>T	c.(220-222)CCC>CTC	p.P74L		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	74					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTATACTTGGGATAATCATA	0.358		NaN											0	0	0	1	0	29	106				
MARCKS	4082	broad.mit.edu	37	6	114181750	114181750	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:114181750G>C	uc003pvy.3	+	2	1389	c.994G>C	c.(994-996)GAG>CAG	p.E332Q		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	332					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGAGGCGGCAGAGTAAAAGAG	0.597		NaN											0	0	0	1	0	73	53				
PLN	5350	broad.mit.edu	37	6	118880088	118880088	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:118880088G>C	uc003pye.2	+	2	215	c.4G>C	c.(4-6)GAG>CAG	p.E2Q	C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron	NM_002667	NP_002658	P26678	PPLA_HUMAN	phospholamban	2	Cytoplasmic (Potential).				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding				0		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		TGGTATCATGGAGAAAGTCCA	0.403		NaN											0	0	0	1	0	17	17				
PTPRK	5796	broad.mit.edu	37	6	128318060	128318060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:128318060C>A	uc003qbk.2	-	17	3117	c.2750G>T	c.(2749-2751)GGA>GTA	p.G917V	PTPRK_uc003qbj.2_Missense_Mutation_p.G918V|PTPRK_uc010kfc.2_Missense_Mutation_p.G918V|PTPRK_uc011ebu.1_Missense_Mutation_p.G934V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	917	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATAATGTTTCCATATCGGTT	0.333		NaN											1	0	0.0135373	1	0.0135816	9	19				
HIVEP2	3097	broad.mit.edu	37	6	143095470	143095470	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:143095470C>T	uc003qjd.2	-	5	1149	c.406G>A	c.(406-408)GAG>AAG	p.E136K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATAAGTCCTCAGAGGCAACG	0.502		NaN											0	0	0	1	0	77	71				
UTRN	7402	broad.mit.edu	37	6	145051568	145051568	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:145051568G>A	uc003qkt.2	+	53	7977	c.7885G>A	c.(7885-7887)GAT>AAT	p.D2629N		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2629	Spectrin 18.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTCTTGGCTGATCAGCCAAT	0.448		NaN											0	0	0	1	0	19	39				
RAET1E	135250	broad.mit.edu	37	6	150210659	150210659	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:150210659G>C	uc003qnl.1	-	3	507	c.447C>G	c.(445-447)CTC>CTG	p.L149L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L149L|RAET1E_uc003qnk.1_Silent_p.L113L|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	149	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTGCGTCAAAGAGGAGGGATT	0.468		NaN											0	0	0	1	0	84	69				
ARID1B	57492	broad.mit.edu	37	6	157256700	157256700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:157256700C>G	uc003qqn.2	+	4	1966	c.1814C>G	c.(1813-1815)TCA>TGA	p.S605*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.S618*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.S605*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.S33*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	663					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAAGACCATCAAGTTTACCA	0.373		NaN											0	0	0	1	0	17	58		Valid		
SUN1	23353	broad.mit.edu	37	7	872165	872165	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872165G>C	uc011jvp.1	+	2	83	c.4G>C	c.(4-6)GAT>CAT	p.D2H	SUN1_uc010ksa.1_Missense_Mutation_p.D23H|SUN1_uc003sje.1_Missense_Mutation_p.D2H|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.D2H	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	2	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GGTGAACATGGATTTTTCTCG	0.537		NaN											0	0	0	1	0	12	17				
SUN1	23353	broad.mit.edu	37	7	872210	872210	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872210G>C	uc011jvp.1	+	2	128	c.49G>C	c.(49-51)GAG>CAG	p.E17Q	SUN1_uc010ksa.1_Missense_Mutation_p.E38Q|SUN1_uc003sje.1_Missense_Mutation_p.E17Q|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.E17Q	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	17	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GTGTGTGCCGGAGAACACGGG	0.562		NaN											0	0	0	1	0	9	16				
HDAC9	9734	broad.mit.edu	37	7	18767220	18767220	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:18767220G>A	uc003suh.2	+	12	1781	c.1740G>A	c.(1738-1740)ACG>ACA	p.T580T	HDAC9_uc003sue.2_Silent_p.T580T|HDAC9_uc011jyd.1_Silent_p.T580T|HDAC9_uc003sui.2_Silent_p.T583T|HDAC9_uc003suj.2_Silent_p.T539T|HDAC9_uc003sua.1_Silent_p.T558T|HDAC9_uc010kue.1_Silent_p.T235T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	580					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAACCCACGCACACACGTG	0.527		NaN											0	0	0	1	0	4	14				
ABCB5	340273	broad.mit.edu	37	7	20766683	20766683	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:20766683G>C	uc003suw.3	+	13	1857	c.1311G>C	c.(1309-1311)GAG>GAC	p.E437D	ABCB5_uc010kuh.2_Missense_Mutation_p.E882D|ABCB5_uc003sux.1_Missense_Mutation_p.E60D	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	437	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AAGCTTTGGAGAATATACGTA	0.328		NaN											0	0	0	1	0	33	48				
STK31	56164	broad.mit.edu	37	7	23821065	23821065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:23821065G>C	uc003sws.3	+	16	2060	c.1993G>C	c.(1993-1995)GAG>CAG	p.E665Q	STK31_uc003swt.3_Missense_Mutation_p.E642Q|STK31_uc011jze.1_Missense_Mutation_p.E665Q|STK31_uc010kuq.2_Missense_Mutation_p.E642Q	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	665							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CTCTCAAATTGAGAAAATAAA	0.299		NaN											0	0	0	1	0	20	43				
VPS41	27072	broad.mit.edu	37	7	38860835	38860835	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:38860835C>G	uc003tgy.2	-	6	378	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	VPS41_uc003tgz.2_Missense_Mutation_p.E93Q|VPS41_uc010kxn.2_Missense_Mutation_p.E118Q	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	118					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TCGTGAAATTCTTCTCCAGAA	0.368		NaN											0	0	0	1	0	75	102				
POLM	27434	broad.mit.edu	37	7	44119193	44119193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:44119193C>G	uc003tjt.2	-	4	711	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	POLM_uc003tjw.1_5'Flank|POLM_uc003tju.2_Missense_Mutation_p.E207Q|POLM_uc003tjx.2_Missense_Mutation_p.E207Q|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.E207Q|POLM_uc011kbu.1_Missense_Mutation_p.E174Q|POLM_uc010kxy.2_Missense_Mutation_p.E207Q	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	207					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GAGGAGTGTTCTCCAAAGTGG	0.637		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	42	67				
CCM2	83605	broad.mit.edu	37	7	45115443	45115443	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:45115443G>A	uc003tmo.2	+	10	1268	c.1122G>A	c.(1120-1122)GTG>GTA	p.V374V	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.V316V|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.V283V|CCM2_uc003tms.2_Silent_p.V395V	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	374					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						CCATTGGCGTGAAGGATGGCC	0.612		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	1	0	54	59				
CLIP2	7461	broad.mit.edu	37	7	73790516	73790516	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:73790516G>A	uc003uam.2	+	10	2112	c.1785G>A	c.(1783-1785)CTG>CTA	p.L595L	CLIP2_uc003uan.2_Silent_p.L560L|CLIP2_uc003uao.2_5'UTR	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	595	Potential.					microtubule associated complex				skin(3)	3						TGGCGGGCCTGAAGGACAAGG	0.612		NaN											0	0	0	1	0	26	26				
AKAP9	10142	broad.mit.edu	37	7	91709233	91709233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:91709233G>A	uc003ulg.2	+	31	8011	c.7786G>A	c.(7786-7788)GAG>AAG	p.E2596K	AKAP9_uc003ulf.2_Missense_Mutation_p.E2588K|AKAP9_uc003uli.2_Missense_Mutation_p.E2219K|AKAP9_uc003ulj.2_Missense_Mutation_p.E366K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2608	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAAGATGAGTTGGGGTC	0.318		NaN	T	BRAF	papillary thyroid								0	0	0	1	0	50	39				
HEPACAM2	253012	broad.mit.edu	37	7	92838029	92838029	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92838029G>A	uc003umm.2	-	4	899	c.876C>T	c.(874-876)ATC>ATT	p.I292I	HEPACAM2_uc003uml.2_Silent_p.I280I|HEPACAM2_uc010lff.2_Silent_p.I280I|HEPACAM2_uc011khy.1_Silent_p.I315I	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	292	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CATGCTTAATGATATATGTAG	0.463		NaN											0	0	0	1	0	37	59				
CCDC132	55610	broad.mit.edu	37	7	92921129	92921129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92921129G>A	uc003umo.2	+	13	1185	c.1057G>A	c.(1057-1059)GAT>AAT	p.D353N	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.D323N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.D73N	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	353											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGACAATGAGGATACTGCTTC	0.368		NaN											0	0	0	1	0	33	40				
PON2	5445	broad.mit.edu	37	7	95039303	95039303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:95039303G>A	uc003unv.2	-	6	726	c.605C>T	c.(604-606)GCA>GTA	p.A202V	PON2_uc003unu.2_Missense_Mutation_p.A190V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.A115V	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	202					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AACAACATTTGCCCAGTGTAA	0.388		NaN											0	0	0	1	0	66	94				
SMURF1	57154	broad.mit.edu	37	7	98634777	98634777	+	Silent	SNP	G	G	A	rs148999069	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:98634777G>A	uc003upu.1	-	16	2120	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I	SMURF1_uc003upv.1_Silent_p.I574I|SMURF1_uc003upt.2_Silent_p.I574I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	600	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACTGGGCTTCGATTCCTCTCA	0.468		NaN									OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	52	79				
PUS7	54517	broad.mit.edu	37	7	105111175	105111175	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:105111175G>C	uc003vcx.2	-	11	1577	c.1358C>G	c.(1357-1359)TCA>TGA	p.S453*	PUS7_uc010lji.2_Nonsense_Mutation_p.S459*|PUS7_uc003vcy.2_Nonsense_Mutation_p.S453*|PUS7_uc003vcz.1_Nonsense_Mutation_p.S453*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	453	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TCCATATTTTGAAAGTCCTCG	0.423		NaN											0	0	0	1	0	92	109				
LAMB4	22798	broad.mit.edu	37	7	107689947	107689947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:107689947G>A	uc010ljo.1	-	27	4030	c.3946C>T	c.(3946-3948)CAC>TAC	p.H1316Y	LAMB4_uc003vey.2_Missense_Mutation_p.H1316Y|LAMB4_uc010ljp.1_Missense_Mutation_p.H285Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1316	Domain II.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GATGATATGTGATAATATTTC	0.284		NaN											0	0	0	1	0	27	47				
ZNF800	168850	broad.mit.edu	37	7	127014125	127014125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:127014125G>C	uc003vlx.1	-	5	1528	c.1265C>G	c.(1264-1266)TCC>TGC	p.S422C	ZNF800_uc003vlw.1_Missense_Mutation_p.S325C|ZNF800_uc003vly.1_Missense_Mutation_p.S422C|ZNF800_uc010lla.2_Missense_Mutation_p.S422C	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGGGTAATGGAAGGGGGTGA	0.353		NaN											0	0	0	1	0	55	84				
KIAA1549	57670	broad.mit.edu	37	7	138604031	138604031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:138604031G>C	uc011kql.1	-	2	390	c.341C>G	c.(340-342)TCT>TGT	p.S114C	KIAA1549_uc003vuk.3_Missense_Mutation_p.S64C|KIAA1549_uc011kqj.1_Missense_Mutation_p.S114C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	114						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGTAGTGGCAGACGGCGGGGC	0.517		NaN	O	BRAF	pilocytic astrocytoma								0	0	0	1	0	58	55				
KLRG2	346689	broad.mit.edu	37	7	139168067	139168067	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:139168067C>G	uc003vvb.2	-	1	391	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	KLRG2_uc010lnc.2_Missense_Mutation_p.E108Q	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	108	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					CCGGGCGCCTCGCCATTCCGG	0.771		NaN											0	0	0	1	0	6	6				
DENND2A	27147	broad.mit.edu	37	7	140258011	140258011	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:140258011C>T	uc010lnj.2	-	9	2036	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.E631K|DENND2A_uc003vvw.2_Missense_Mutation_p.E631K|DENND2A_uc003vvx.2_Missense_Mutation_p.E631K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	631	UDENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAGAATGTTTCACTGTGGTTG	0.473		NaN											0	0	0	1	0	29	32				
C7orf33	202865	broad.mit.edu	37	7	148288196	148288196	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:148288196T>A	uc003wew.2	+	1	540	c.179T>A	c.(178-180)TTG>TAG	p.L60*		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	60										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAATTTAACTTGTCATATGCC	0.493		NaN											0	0	0	1	0	61	87				
ZNF777	27153	broad.mit.edu	37	7	149153043	149153043	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149153043G>A	uc003wfv.2	-	2	234	c.71C>T	c.(70-72)CCT>CTT	p.P24L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTCCAGCAGGGGCCTGACG	0.547		NaN											0	0	0	1	0	39	54				
KRBA1	84626	broad.mit.edu	37	7	149419541	149419541	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149419541G>A	uc003wfz.2	+	6	894	c.495G>A	c.(493-495)AGG>AGA	p.R165R	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	165										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTACAAGGAAGGAAGGCC	0.607		NaN											0	0	0	1	0	3	9				
NOS3	4846	broad.mit.edu	37	7	150699303	150699303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:150699303G>A	uc003wif.2	+	14	1959	c.1663G>A	c.(1663-1665)GAG>AAG	p.E555K	NOS3_uc011kuy.1_Missense_Mutation_p.E349K|NOS3_uc011kuz.1_Missense_Mutation_p.E555K|NOS3_uc011kva.1_Missense_Mutation_p.E555K|NOS3_uc011kvb.1_Missense_Mutation_p.E555K	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	555	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTGTATGGATGAGTATGACGT	0.602		NaN											0	0	0	1	0	6	12				
MLL3	58508	broad.mit.edu	37	7	151877000	151877000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151877000C>G	uc003wla.2	-	37	7580	c.7361G>C	c.(7360-7362)AGA>ACA	p.R2454T	MLL3_uc003wkz.2_Missense_Mutation_p.R1515T|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2454	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AACAGCATATCTAGGTCCTAA	0.478		NaN	N		medulloblastoma								0	0	0	1	0	86	99		Valid		
MLL3	58508	broad.mit.edu	37	7	151878836	151878836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151878836C>G	uc003wla.2	-	36	6328	c.6109G>C	c.(6109-6111)GAT>CAT	p.D2037H	MLL3_uc003wkz.2_Missense_Mutation_p.D1098H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2037	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACCACTATCAAGAGGTGCA	0.468		NaN	N		medulloblastoma								0	0	0	1	0	53	74		Valid		
MLL3	58508	broad.mit.edu	37	7	151945114	151945114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151945114G>A	uc003wla.2	-	14	2624	c.2405C>T	c.(2404-2406)TCA>TTA	p.S802L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	802					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTAAGAGCTGAAGGGTAATT	0.423		NaN	N		medulloblastoma								0	0	0	1	0	37	740		Valid		
PCM1	5108	broad.mit.edu	37	8	17813081	17813081	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:17813081C>G	uc003wyi.3	+	10	1813	c.1391C>G	c.(1390-1392)TCT>TGT	p.S464C	PCM1_uc011kyh.1_Missense_Mutation_p.S464C|PCM1_uc003wyj.3_Missense_Mutation_p.S464C|PCM1_uc003wyh.2_Missense_Mutation_p.S503C|PCM1_uc010lta.1_Missense_Mutation_p.S503C	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	464					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		CTCACATCATCTGTTCCTTAT	0.433		NaN	T	RET|JAK2	papillary thyroid|CML|MPD								0	0	0	1	0	23	33				
CHD7	55636	broad.mit.edu	37	8	61654025	61654025	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:61654025G>A	uc003xue.2	+	2	511	c.34G>A	c.(34-36)GAG>AAG	p.E12K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	12					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTTTTTGGCGAGGATGGGAA	0.488		NaN											0	0	0	1	0	13	9		Valid		
KCNB2	9312	broad.mit.edu	37	8	73848265	73848265	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:73848265A>G	uc003xzb.2	+	3	1263	c.675A>G	c.(673-675)GGA>GGG	p.G225G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	225					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ACGAATTTGGACAACTCAATG	0.468		NaN											0	0	0	1	0	60	73				
RALYL	138046	broad.mit.edu	37	8	85785626	85785626	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:85785626G>C	uc003ycq.3	+	8	1095	c.679G>C	c.(679-681)GAG>CAG	p.E227Q	RALYL_uc003ycr.3_Missense_Mutation_p.E227Q|RALYL_uc003ycs.3_Missense_Mutation_p.E227Q|RALYL_uc010lzy.2_Missense_Mutation_p.E216Q|RALYL_uc003yct.3_Missense_Mutation_p.E240Q|RALYL_uc003ycu.3_Missense_Mutation_p.E154Q|RALYL_uc003ycv.3_Missense_Mutation_p.E139Q	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	227	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GCAGAAGGCGGAGGCAGGTAA	0.463		NaN											0	0	0	1	0	4	4				
ESRP1	54845	broad.mit.edu	37	8	95680397	95680397	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:95680397G>C	uc003ygq.3	+	10	1335	c.1152G>C	c.(1150-1152)CAG>CAC	p.Q384H	ESRP1_uc003ygr.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygs.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygt.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygu.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygv.2_Missense_Mutation_p.Q224H|ESRP1_uc003ygw.2_Missense_Mutation_p.Q224H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	384	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						AATATGCACAGAATGCGTTGA	0.458		NaN											0	0	0	1	0	47	50				
UBR5	51366	broad.mit.edu	37	8	103323975	103323975	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:103323975G>A	uc003ykr.1	-	19	2439	c.2406C>T	c.(2404-2406)TTC>TTT	p.F802F	UBR5_uc003yks.1_Silent_p.F802F	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	802					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCCAGCAGTGAAAATGGCTA	0.413		NaN											0	0	0	1	0	105	90				
PKHD1L1	93035	broad.mit.edu	37	8	110492333	110492333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:110492333G>C	uc003yne.2	+	55	9396	c.9292G>C	c.(9292-9294)GAA>CAA	p.E3098Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3098	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTACAGAGAAGTTGTTTT	0.353		NaN								HNSCC(38;0.096)			0	0	0	1	0	5	3				
DEPDC6	64798	broad.mit.edu	37	8	120977541	120977541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:120977541C>T	uc003yow.3	+	4	682	c.495C>T	c.(493-495)TTC>TTT	p.F165F	DEPDC6_uc011lid.1_Silent_p.F64F	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	165	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCGCACCTTCATGGCATCTG	0.532		NaN											0	0	0	1	0	41	61				
WISP1	8840	broad.mit.edu	37	8	134239872	134239872	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134239872C>T	uc003yub.2	+	5	1099	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	WISP1_uc003yuc.2_Silent_p.F254F|WISP1_uc010meb.2_Silent_p.F169F|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.F96F|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	341	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGCCTGCTTCTGTAACCTGA	0.502		NaN											0	0	0	1	0	61	59				
NDRG1	10397	broad.mit.edu	37	8	134266798	134266798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134266798G>C	uc003yuh.2	-	9	1164	c.578C>G	c.(577-579)TCC>TGC	p.S193C	NDRG1_uc003yuf.1_Missense_Mutation_p.S4C|NDRG1_uc003yug.2_Missense_Mutation_p.S193C|NDRG1_uc010mee.2_Missense_Mutation_p.S112C|NDRG1_uc010mef.2_Missense_Mutation_p.S127C|NDRG1_uc011ljh.1_Missense_Mutation_p.S21C|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	193					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AAAAAGGTGGGACACCACCAT	0.537		NaN											0	0	0	1	0	24	35				
SLC45A4	57210	broad.mit.edu	37	8	142229062	142229062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:142229062C>T	uc003ywd.1	-	4	832	c.524G>A	c.(523-525)TGG>TAG	p.W175*	SLC45A4_uc003ywc.1_Nonsense_Mutation_p.W175*|SLC45A4_uc010meq.1_Nonsense_Mutation_p.W173*	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	226					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCCGGAACCAGCTGCCCAG	0.647		NaN											0	0	0	1	0	89	89				
ZNF623	9831	broad.mit.edu	37	8	144732634	144732634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144732634C>G	uc003yzd.2	+	1	681	c.592C>G	c.(592-594)CAG>GAG	p.Q198E	ZNF623_uc011lkp.1_Missense_Mutation_p.Q158E|ZNF623_uc003yzc.2_Missense_Mutation_p.Q158E	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	198	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATTGAGCATCAGCGCGTTCA	0.473		NaN											0	0	0	1	0	57	62				
EPPK1	83481	broad.mit.edu	37	8	144946756	144946756	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144946756G>A	uc003zaa.1	-	1	679	c.666C>T	c.(664-666)CCC>CCT	p.P222P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	222	Plectin 5.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCGAGCCGGGGGCACGCA	0.662		NaN											0	0	0	1	0	11	16				
EXOSC4	54512	broad.mit.edu	37	8	145134907	145134907	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145134907C>T	uc003zau.2	+	2	343	c.233C>T	c.(232-234)TCA>TTA	p.S78L	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	78					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAATATAGTTCAGCGACCTTC	0.617		NaN											0	0	0	1	0	104	145				
NFKBIL2	4796	broad.mit.edu	37	8	145661307	145661307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145661307C>T	uc011llg.1	-	17	2524	c.2509G>A	c.(2509-2511)GAG>AAG	p.E837K	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	837					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ATGTCCAGCTCCAGCCAGTCC	0.622		NaN											0	0	0	1	0	9	17				
DOCK8	81704	broad.mit.edu	37	9	446486	446486	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:446486C>G	uc003zgf.2	+	44	5809	c.5697C>G	c.(5695-5697)TTC>TTG	p.F1899L	DOCK8_uc010mgu.2_Missense_Mutation_p.F1201L|DOCK8_uc010mgv.2_Missense_Mutation_p.F1799L|DOCK8_uc003zgk.2_Missense_Mutation_p.F1357L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1899					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCACCCCGTTCACCCTGGAGG	0.522		NaN											0	0	0	1	0	67	99				
RFX3	5991	broad.mit.edu	37	9	3257090	3257090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:3257090C>T	uc003zhr.2	-	15	2027	c.1715G>A	c.(1714-1716)TGG>TAG	p.W572*	RFX3_uc010mhd.2_Nonsense_Mutation_p.W572*|RFX3_uc003zhs.1_Nonsense_Mutation_p.W572*	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	572					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATTGTCAAGCCACGCAGCCCA	0.498		NaN											0	0	0	1	0	64	71				
FREM1	158326	broad.mit.edu	37	9	14824958	14824958	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:14824958G>A	uc003zlm.2	-	11	2504	c.1914C>T	c.(1912-1914)GAC>GAT	p.D638D	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	638	CSPG 4.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGGAAGCTGGTCATCCACTG	0.383		NaN											0	0	0	1	0	28	33				
PTPLAD2	401494	broad.mit.edu	37	9	21007098	21007098	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:21007098G>T	uc010miq.1	-	7	683	c.637C>A	c.(637-639)CAT>AAT	p.H213N	PTPLAD2_uc003zoj.1_Missense_Mutation_p.H176N|PTPLAD2_uc010mir.1_Missense_Mutation_p.H213N	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	213	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			skin(1)	1				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAGTATAGATGACTGTAGGTA	0.348		NaN											1	0	2.80507e-11	1	2.86585e-11	27	50				
UBAP2	55833	broad.mit.edu	37	9	33927842	33927842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:33927842G>A	uc003ztq.1	-	20	2437	c.2324C>T	c.(2323-2325)GCG>GTG	p.A775V	UBAP2_uc011loc.1_Missense_Mutation_p.A684V|UBAP2_uc011lod.1_Missense_Mutation_p.A508V|UBAP2_uc011loe.1_Missense_Mutation_p.A530V|UBAP2_uc011lof.1_Missense_Mutation_p.A700V|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.A14V|UBAP2_uc003zto.1_Missense_Mutation_p.A14V|UBAP2_uc003ztp.1_Missense_Mutation_p.A14V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	775										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGATGCACTCGCGGGGGTCCC	0.642		NaN											0	0	0	1	0	84	106				
KIAA1045	23349	broad.mit.edu	37	9	34976667	34976667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:34976667G>A	uc003zvq.2	+	5	957	c.779G>A	c.(778-780)CGA>CAA	p.R260Q	KIAA1045_uc003zvr.2_Missense_Mutation_p.R260Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	260							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAACATCGAGGCCACATA	0.632		NaN											0	0	0	1	0	51	77				
SMC5	23137	broad.mit.edu	37	9	72962016	72962016	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:72962016T>C	uc004ahr.2	+	20	2720	c.2603T>C	c.(2602-2604)ATT>ACT	p.I868T	SMC5_uc011lry.1_Missense_Mutation_p.I13T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	868					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TTGGATGAAATTGATGCTTTA	0.368		NaN											0	0	0	1	0	31	34				
TRPM6	140803	broad.mit.edu	37	9	77390846	77390846	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:77390846C>A	uc004ajl.1	-	24	3594	c.3356G>T	c.(3355-3357)TGC>TTC	p.C1119F	TRPM6_uc004ajk.1_Missense_Mutation_p.C1114F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.C75F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1119	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TCGATGACAGCACAGGCGGCG	0.542		NaN											1	0	2.40265e-35	1	2.54814e-35	50	100				
PCSK5	5125	broad.mit.edu	37	9	78796359	78796359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:78796359G>C	uc004ajz.2	+	16	2587	c.2049G>C	c.(2047-2049)AAG>AAC	p.K683N	PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	683	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						ACGCCGACAAGAAGCGCTGCA	0.522		NaN											0	0	0	1	0	26	52				
PSAT1	29968	broad.mit.edu	37	9	80912185	80912185	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:80912185C>G	uc004ala.2	+	1	127	c.59C>G	c.(58-60)TCA>TGA	p.S20*	PSAT1_uc004alb.2_Nonsense_Mutation_p.S20*	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	20					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTGCCGCACTCAGTAAGTCCC	0.697		NaN											0	0	0	1	0	14	14				
KIF27	55582	broad.mit.edu	37	9	86485462	86485462	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:86485462C>G	uc004ana.2	-	12	2873	c.2729G>C	c.(2728-2730)GGT>GCT	p.G910A	KIF27_uc010mpw.2_Missense_Mutation_p.G844A|KIF27_uc010mpx.2_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	910					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TCCAAACGAACCTTTTCTCCT	0.348		NaN											0	0	0	1	0	26	34				
ANP32B	10541	broad.mit.edu	37	9	100756947	100756947	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:100756947A>T	uc004aya.2	+	2	438	c.89A>T	c.(88-90)AAT>ATT	p.N30I		NM_006401	NP_006392	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	30	LRR 1.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(62;0.0559)				TGCAAATCAAATGATGGAAAA	0.363		NaN											0	0	0	1	0	32	52				
OR13C4	138804	broad.mit.edu	37	9	107289386	107289386	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:107289386G>A	uc011lvn.1	-	1	105	c.105C>T	c.(103-105)TAC>TAT	p.Y35Y		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GAATCACTACGTACATAACTA	0.413		NaN											0	0	0	1	0	68	81				
FBXW2	26190	broad.mit.edu	37	9	123550366	123550366	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123550366G>C	uc004bkl.1	-	3	332	c.171C>G	c.(169-171)CTC>CTG	p.L57L	FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkn.2_Silent_p.L89L|FBXW2_uc004bkm.1_Silent_p.L57L|FBXW2_uc010mvj.1_Silent_p.L57L	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	57	F-box.				proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						GAAGGAGTTTGAGGAAGTCCC	0.463		NaN											0	0	0	1	0	45	64				
C5	727	broad.mit.edu	37	9	123737147	123737147	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123737147C>G	uc004bkv.2	-	30	3957	c.3927G>C	c.(3925-3927)TTG>TTC	p.L1309F		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1309					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGTCCATACTCAAGCGGAGTT	0.403		NaN											0	0	0	1	0	101	131				
ZBTB6	10773	broad.mit.edu	37	9	125673538	125673538	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673538C>G	uc004bnh.2	-	2	903	c.814G>C	c.(814-816)GAT>CAT	p.D272H		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGCCCTGATCTTGATTCCCA	0.428		NaN											0	0	0	1	0	23	39				
ZBTB6	10773	broad.mit.edu	37	9	125673781	125673781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673781C>G	uc004bnh.2	-	2	660	c.571G>C	c.(571-573)GAG>CAG	p.E191Q		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTCAGACTCTCTACTGTAGAC	0.353		NaN											0	0	0	1	0	35	36				
GOLGA1	2800	broad.mit.edu	37	9	127689002	127689002	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127689002C>G	uc004bpc.2	-	7	760	c.418G>C	c.(418-420)GAT>CAT	p.D140H	GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.D115H	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	140	Potential.					Golgi cisterna membrane				ovary(1)	1						TCAAGCTGATCCATCTTTTCT	0.343		NaN											0	0	0	1	0	53	113				
GOLGA1	2800	broad.mit.edu	37	9	127691529	127691529	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691529C>T	uc004bpc.2	-	5	609	c.267G>A	c.(265-267)GAG>GAA	p.E89E	GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	89	Potential.					Golgi cisterna membrane				ovary(1)	1						TTTCAAGCTTCTCTTTTATCT	0.368		NaN											0	0	0	1	0	5	41				
GOLGA1	2800	broad.mit.edu	37	9	127691531	127691531	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691531C>T	uc004bpc.2	-	5	607	c.265G>A	c.(265-267)GAG>AAG	p.E89K	GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	89	Potential.					Golgi cisterna membrane				ovary(1)	1						TCAAGCTTCTCTTTTATCTTC	0.363		NaN											0	0	0	1	0	5	42				
NUP188	23511	broad.mit.edu	37	9	131767776	131767776	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:131767776C>T	uc004bws.1	+	40	4726	c.4704C>T	c.(4702-4704)TTC>TTT	p.F1568F		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1568					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TGCGCCACTTCACCCCAGATG	0.577		NaN											0	0	0	1	0	40	61				
BARHL1	56751	broad.mit.edu	37	9	135464731	135464731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135464731C>G	uc004cbp.1	+	3	998	c.806C>G	c.(805-807)TCC>TGC	p.S269C		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	269						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGTCTGGTTTCCAACCTGGAC	0.672		NaN											0	0	0	1	0	90	99				
CEL	1056	broad.mit.edu	37	9	135947083	135947083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135947083G>A	uc010naa.1	+	11	2219	c.2203G>A	c.(2203-2205)GAG>AAG	p.E735K		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	732	16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGTGACTCTGAGGCTGCCCC	0.682		NaN											0	0	0	1	0	27	30				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:137328351C>T	uc004cfb.2	+	10	1442	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	RXRA_uc004cfc.1_Missense_Mutation_p.S330F	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											0	0	0	1	0	71	105		Valid		
SDCCAG3	10807	broad.mit.edu	37	9	139303520	139303520	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:139303520C>G	uc004chi.2	-	3	426	c.221_splice	c.e3-1	p.D74_splice	SDCCAG3_uc004chj.2_Intron|SDCCAG3_uc004chk.2_Intron|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3							cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TAGCCAAAATCTGCAAAGAAA	0.458		NaN											0	0	0	1	0	47	96				
MAN1B1	11253	broad.mit.edu	37	9	140003028	140003028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140003028C>G	uc004cld.2	+	13	2120	c.2085C>G	c.(2083-2085)ATC>ATG	p.I695M	MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.I368M|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	695	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTCTGCCTATCTGGACCCCTG	0.597		NaN											0	0	0	1	0	121	153				
RNF208	727800	broad.mit.edu	37	9	140115104	140115104	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115104G>C	uc004clz.1	-	1	672	c.561C>G	c.(559-561)CCC>CCG	p.P187P		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	187	RING-type.						zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCGGCAGGTGGGGCAGGAGA	0.652		NaN											0	0	0	1	0	14	42				
RNF208	727800	broad.mit.edu	37	9	140115581	140115581	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115581G>T	uc004clz.1	-	1	195	c.84C>A	c.(82-84)CTC>CTA	p.L28L		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	28							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTCCATCTTGAGGATGACAT	0.662		NaN											1	0	0.00152264	1	0.00153264	17	22				
OFD1	8481	broad.mit.edu	37	X	13757019	13757019	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:13757019C>G	uc004cvp.3	+	4	726	c.367C>G	c.(367-369)CTC>GTC	p.L123V	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.L122V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.L122V|OFD1_uc004cvv.3_Missense_Mutation_p.L122V	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	123					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						TACTTCCAGTCTCTACAAATC	0.284		NaN											0	0	0	1	0	63	5				
CYBB	1536	broad.mit.edu	37	X	37664367	37664367	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:37664367C>T	uc004ddr.2	+	10	1321	c.1260C>T	c.(1258-1260)CTC>CTT	p.L420L	CYBB_uc011mkf.1_Silent_p.L388L|CYBB_uc011mkg.1_Silent_p.L153L	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	420	Cytoplasmic (Potential).		L -> P (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CATCCATTCTCAAGTCAGTCT	0.473		NaN											0	0	0	1	0	39	6				
KDM6A	7403	broad.mit.edu	37	X	44918318	44918318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44918318G>C	uc004dge.3	+	11	1318	c.943G>C	c.(943-945)GAA>CAA	p.E315Q	KDM6A_uc010nhk.2_Missense_Mutation_p.E315Q|KDM6A_uc011mkz.1_Missense_Mutation_p.E315Q|KDM6A_uc011mla.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlb.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlc.1_Missense_Mutation_p.E64Q|KDM6A_uc011mld.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	315	TPR 6.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGATAAATCAGAAGCAAGTGC	0.328		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	1	0	42	7		Valid		
KDM6A	7403	broad.mit.edu	37	X	44941858	44941858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44941858C>G	uc004dge.3	+	21	3557	c.3182C>G	c.(3181-3183)TCA>TGA	p.S1061*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.S1113*|KDM6A_uc011mla.1_Nonsense_Mutation_p.S1016*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.S1068*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.S765*|KDM6A_uc011mld.1_Nonsense_Mutation_p.S700*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1061					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAGACCACTCAGATAGTGAA	0.313		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	1	0	39	4		Valid		
CXorf36	79742	broad.mit.edu	37	X	45010958	45010958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:45010958C>G	uc004dgg.2	-	5	1316	c.1241G>C	c.(1240-1242)AGA>ACA	p.R414T		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	414						extracellular region				lung(1)	1						GTCACACGTTCTCAGGGGCCT	0.537		NaN											0	0	0	1	0	96	11				
RGAG4	340526	broad.mit.edu	37	X	71350506	71350506	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:71350506G>T	uc010nlh.1	-	1	1246	c.885C>A	c.(883-885)GCC>GCA	p.A295A	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	295										ovary(2)|skin(1)	3	Renal(35;0.156)					CATCCAGGTCGGCCATTTCTG	0.493		NaN											1	0	6.60522e-78	1	7.10351e-78	127	7				
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:125299171C>T	uc004euk.1	-	1	764	c.737G>A	c.(736-738)CGT>CAT	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						ATCCCTCGGACGGATGTGGGC	0.647		NaN											0	0	0	1	0	29	0				
GPR101	83550	broad.mit.edu	37	X	136113144	136113144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:136113144C>G	uc011mwh.1	-	1	690	c.690G>C	c.(688-690)AAG>AAC	p.K230N		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	230	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AGCTGTGTCTCTTGACATTGT	0.522		NaN											0	0	0	1	0	114	11				
AURKAIP1	54998	broad.mit.edu	37	1	1309762	1309762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:1309762C>G	uc001afb.1	-	2	226	c.116G>C	c.(115-117)AGC>ACC	p.S39T	AURKAIP1_uc001afc.2_Missense_Mutation_p.S39T|AURKAIP1_uc001afd.2_Missense_Mutation_p.S39T|AURKAIP1_uc009vkb.1_Missense_Mutation_p.S39T	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	39					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGCGATGTGCTGTAAAGGGG	0.706		NaN											0	0	0	0.00308	0	7	9				
PER3	8863	broad.mit.edu	37	1	7887376	7887376	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:7887376C>T	uc001aoo.2	+	17	2538	c.2363C>T	c.(2362-2364)GCC>GTC	p.A788V	PER3_uc009vmg.1_Missense_Mutation_p.A796V|PER3_uc009vmh.1_Missense_Mutation_p.A789V|PER3_uc001aop.2_Missense_Mutation_p.A796V|PER3_uc010nzw.1_Missense_Mutation_p.A477V	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	788	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCACCTGCCGCCATGGTG	0.701		NaN											0	0	0	0.01441	0	46	85				
SLC45A1	50651	broad.mit.edu	37	1	8386045	8386045	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8386045G>A	uc001apb.2	+	3	658	c.658G>A	c.(658-660)GAC>AAC	p.D220N		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	220					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTACATGATGGACGTGTGCAG	0.662		NaN											0	0	0	0.01441	0	65	167				
SLC45A1	50651	broad.mit.edu	37	1	8390858	8390858	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8390858G>A	uc001apb.2	+	4	1305	c.1305G>A	c.(1303-1305)CTG>CTA	p.L435L	SLC45A1_uc001apc.2_Silent_p.L133L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	435					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACATTCTGAGGGTGGGCT	0.662		NaN											0	0	0	0.013726	0	28	83				
SLC45A1	50651	broad.mit.edu	37	1	8399581	8399581	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8399581C>T	uc001apb.2	+	7	1803	c.1803C>T	c.(1801-1803)CTC>CTT	p.L601L	SLC45A1_uc001apc.2_Silent_p.L299L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	601	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGTTCCTCAGCGTCCGCA	0.637		NaN											0	0	0	0.011902	0	40	85				
FBXO2	26232	broad.mit.edu	37	1	11708769	11708769	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:11708769G>A	uc001asj.2	-	6	1215	c.873C>T	c.(871-873)AGC>AGT	p.S291S	FBXO2_uc009vna.2_Silent_p.S294S	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	F-box only protein 2	291	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity				0	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CTACCCACACGCTGCTGTTGG	0.657		NaN											0	0	0	0.01441	0	40	69				
PADI1	29943	broad.mit.edu	37	1	17552410	17552410	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:17552410G>A	uc001bah.1	+	5	605	c.513G>A	c.(511-513)CTG>CTA	p.L171L		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	171					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGCTGGCTGATGTCGCTGG	0.612		NaN											0	0	0	0.01441	0	111	223				
ARID1A	8289	broad.mit.edu	37	1	27057835	27057835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:27057835C>T	uc001bmv.1	+	3	1916	c.1543C>T	c.(1543-1545)CAG>TAG	p.Q515*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q132*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	515					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTCCTCTCAGCCTCCATA	0.632		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	237	398		Valid		
TRNAU1AP	54952	broad.mit.edu	37	1	28898397	28898397	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:28898397G>C	uc001bqi.2	+	8	806	c.712G>C	c.(712-714)GAT>CAT	p.D238H	TRNAU1AP_uc001bqh.2_Missense_Mutation_p.D128H|TRNAU1AP_uc010ofw.1_Missense_Mutation_p.D128H	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine associated protein 1	238					selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding				0						AGAAGTTGGAGATGATGCATT	0.333		NaN											0	0	0	0.01441	0	40	88				
BSDC1	55108	broad.mit.edu	37	1	32849566	32849566	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:32849566C>T	uc001bvh.3	-	4	269	c.222G>A	c.(220-222)ATG>ATA	p.M74I	BSDC1_uc010ohg.1_Missense_Mutation_p.M91I|BSDC1_uc010ohh.1_Intron|BSDC1_uc010ohi.1_Intron|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Intron|BSDC1_uc001bvi.2_Missense_Mutation_p.M91I	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	74							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCTTTCTTCATCTTCTCTG	0.547		NaN											0	0	0	0.009535	0	27	95				
EIF2C4	192670	broad.mit.edu	37	1	36301442	36301442	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:36301442G>A	uc001bzj.1	+	13	1762	c.1572G>A	c.(1570-1572)GTG>GTA	p.V524V		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	524	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGCGGAGGTGAAACGTGTTG	0.368		NaN											0	0	0	0.00308	0	8	22				
RLF	6018	broad.mit.edu	37	1	40705282	40705282	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:40705282C>G	uc001cfc.3	+	8	4939	c.4908C>G	c.(4906-4908)ATC>ATG	p.I1636M	RLF_uc001cfd.3_Missense_Mutation_p.I1327M	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1636					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTGCACCCATCCAGAACACTG	0.468		NaN											0	0	0	0.011902	0	37	57				
SMAP2	64744	broad.mit.edu	37	1	40875495	40875495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:40875495C>G	uc001cfj.2	+	4	455	c.390C>G	c.(388-390)ATC>ATG	p.I130M	SMAP2_uc010ojh.1_Missense_Mutation_p.I130M|SMAP2_uc001cfk.2_Missense_Mutation_p.I100M|SMAP2_uc010oji.1_Missense_Mutation_p.I47M	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	130	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GTCTGGACATCAATGCCTTTA	0.373		NaN											0	0	0	0.007413	0	16	23				
HIVEP3	59269	broad.mit.edu	37	1	42047045	42047045	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:42047045G>T	uc001cgz.3	-	4	4637	c.3424C>A	c.(3424-3426)CCA>ACA	p.P1142T	HIVEP3_uc001cha.3_Missense_Mutation_p.P1142T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1142					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGACTGGTGGGGGCAGG	0.602		NaN											1	0	1.05635e-38	0.01441	1.15518e-38	59	129				
PRDX1	5052	broad.mit.edu	37	1	45977057	45977057	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:45977057C>T	uc001cnz.2	-	5	576	c.544G>A	c.(544-546)GAT>AAT	p.D182N	PRDX1_uc001coa.2_Missense_Mutation_p.D182N|PRDX1_uc001cob.2_Missense_Mutation_p.D182N|PRDX1_uc001coc.2_Missense_Mutation_p.D182N	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	182					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)					TTGATGGTATCACTGCCAGGT	0.493		NaN											0	0	0	0.01441	0	157	279				
ACOT11	26027	broad.mit.edu	37	1	55066985	55066985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:55066985G>A	uc001cxm.1	+	9	1010	c.928G>A	c.(928-930)GAG>AAG	p.E310K	ACOT11_uc001cxj.1_Missense_Mutation_p.E188K|ACOT11_uc001cxl.1_Missense_Mutation_p.E310K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	310	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CCAGGAGGCTGAGACCCACCG	0.642		NaN											0	0	0	0.011902	0	40	99				
DOCK7	85440	broad.mit.edu	37	1	62993932	62993932	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:62993932C>T	uc001daq.2	-	31	3860	c.3826G>A	c.(3826-3828)GAT>AAT	p.D1276N	DOCK7_uc001dan.2_Missense_Mutation_p.D1137N|DOCK7_uc001dao.2_Missense_Mutation_p.D1137N|DOCK7_uc001dap.2_Missense_Mutation_p.D1245N|DOCK7_uc001dam.2_Missense_Mutation_p.D456N|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1276					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						CTTTCATAATCATCAGTGGCT	0.408		NaN											0	0	0	0.001855	0	14	22				
ROR1	4919	broad.mit.edu	37	1	64643839	64643839	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:64643839G>A	uc001dbj.2	+	9	2514	c.2115G>A	c.(2113-2115)GTG>GTA	p.V705V	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	705	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TTGAGATGGTGAGAAAACGGC	0.458		NaN											0	0	0	0.014323	0	23	58				
SYDE2	84144	broad.mit.edu	37	1	85624533	85624533	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:85624533T>A	uc009wcm.2	-	7	3534	c.3485A>T	c.(3484-3486)GAT>GTT	p.D1162V		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	1162					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTTTTTTCGATCCACTGTAGA	0.363		NaN											0	0	0	0.00308	0	5	9				
BRDT	676	broad.mit.edu	37	1	92433810	92433810	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:92433810C>A	uc001dok.3	+	4	787	c.438C>A	c.(436-438)ATC>ATA	p.I146I	BRDT_uc001dol.3_Silent_p.I146I|BRDT_uc010osz.1_Silent_p.I146I|BRDT_uc009wdf.2_Silent_p.I73I|BRDT_uc010ota.1_Silent_p.I100I|BRDT_uc010otb.1_Silent_p.I100I|BRDT_uc001dom.3_Silent_p.I146I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGGAAAGAATCAAGAAAGGTA	0.398		NaN											1	0	7.93312e-07	0.00245	8.18569e-07	12	15				
ABCA4	24	broad.mit.edu	37	1	94461703	94461703	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:94461703G>C	uc001dqh.2	-	49	6882	c.6778C>G	c.(6778-6780)CTG>GTG	p.L2260V		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2260	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGAGGGTGCAGAGGGAGGTCA	0.517		NaN											0	0	0	0.004656	0	22	64				
CELSR2	1952	broad.mit.edu	37	1	109793958	109793958	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:109793958C>G	uc001dxa.3	+	1	1318	c.1257C>G	c.(1255-1257)CTC>CTG	p.L419L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	419	Cadherin 3.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCAGTACTCCGAGTCACAG	0.547		NaN											0	0	0	0.01441	0	62	85				
CELSR2	1952	broad.mit.edu	37	1	109795716	109795716	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:109795716C>T	uc001dxa.3	+	1	3076	c.3015C>T	c.(3013-3015)AGC>AGT	p.S1005S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1005	Extracellular (Potential).|Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTGGTGAGCCGGGCTACAG	0.567		NaN											0	0	0	0.00499	0	15	67				
MAGI3	260425	broad.mit.edu	37	1	114226131	114226131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:114226131G>A	uc001edk.2	+	21	4122	c.3941G>A	c.(3940-3942)CGA>CAA	p.R1314Q	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1339					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTAAGAGTCGAAGAATAGCA	0.453		NaN											0	0	0	0.004878	0	31	69				
WDR3	10885	broad.mit.edu	37	1	118494605	118494605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:118494605G>A	uc010oxe.1	+	17	1876	c.1810G>A	c.(1810-1812)GCA>ACA	p.A604T	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	604	WD 11.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATAGGATGGAGCACTCATAGC	0.383		NaN											0	0	0	0.004672	0	3	96				
HSD3B2	3284	broad.mit.edu	37	1	119958115	119958115	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:119958115G>C	uc001ehs.2	+	1	846	c.73G>C	c.(73-75)GAG>CAG	p.E25Q	HSD3B2_uc001eht.2_Missense_Mutation_p.E25Q|HSD3B2_uc001ehu.2_Missense_Mutation_p.E25Q	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	25					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTTGGTGGAAGAGAAGGAACT	0.522		NaN											0	0	0	0.007413	0	18	73				
SEC22B	9554	broad.mit.edu	37	1	145109581	145109581	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:145109581G>A	uc001eml.1	+	5	383	c.243G>A	c.(241-243)AAG>AAA	p.K81K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	81	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						CCTTCCCTAAGACGTTGGCTT	0.423		NaN											0	0	0	0.003271	0	35	350				
HRNR	388697	broad.mit.edu	37	1	152187575	152187575	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:152187575G>A	uc001ezt.1	-	3	6606	c.6530C>T	c.(6529-6531)TCT>TTT	p.S2177F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2177	24.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCCAGACCCTTGTCG	0.637		NaN											0	0	0	0.01441	0	36	295				
HRNR	388697	broad.mit.edu	37	1	152192129	152192129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:152192129G>C	uc001ezt.1	-	3	2052	c.1976C>G	c.(1975-1977)TCT>TGT	p.S659C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	659	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGACTAGGAGACTGGCCAGA	0.592		NaN											0	0	0	0.00308	0	8	284				
FLAD1	80308	broad.mit.edu	37	1	154962840	154962840	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:154962840G>C	uc001fgf.1	+	5	1744	c.1390G>C	c.(1390-1392)GAG>CAG	p.E464Q	FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgg.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgh.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	464	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTGGAAGCTGAGGGCAGCAT	0.602		NaN											0	0	0	0.003271	0	28	108				
LMNA	4000	broad.mit.edu	37	1	156105709	156105709	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156105709G>A	uc001fni.2	+	6	1203	c.954G>A	c.(952-954)GCG>GCA	p.A318A	LMNA_uc001fnf.1_Silent_p.A318A|LMNA_uc001fng.2_Silent_p.A318A|LMNA_uc001fnh.2_Silent_p.A318A|LMNA_uc009wro.1_Silent_p.A318A|LMNA_uc010pgz.1_Silent_p.A206A|LMNA_uc001fnj.2_Silent_p.A237A|LMNA_uc001fnk.2_Silent_p.A219A|LMNA_uc009wrp.2_Missense_Mutation_p.R46Q|LMNA_uc010pha.1_5'UTR	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	318	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					CCAAGGAGGCGAAGCTTCGAG	0.657		NaN							Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				0	0	0	0.010504	0	19	41				
HAPLN2	60484	broad.mit.edu	37	1	156593740	156593740	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156593740G>C	uc001fpn.1	+	4	634	c.227G>C	c.(226-228)GGG>GCG	p.G76A	HAPLN2_uc010phq.1_Missense_Mutation_p.G76A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	76	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGAGCCTGGGGAGCTCCGG	0.682		NaN											0	0	0	0.00278	0	20	9				
HAPLN2	60484	broad.mit.edu	37	1	156594201	156594201	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156594201G>A	uc001fpn.1	+	5	905	c.498G>A	c.(496-498)GCG>GCA	p.A166A		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	166	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTACGAGGCGAAGCAGGCGT	0.672		NaN											0	0	0	0.004007	0	13	27				
CD1A	909	broad.mit.edu	37	1	158226040	158226040	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:158226040T>C	uc001frt.2	+	3	1105	c.572T>C	c.(571-573)CTT>CCT	p.L191P		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	191	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTGGGTCTTCTTGATGCAGGA	0.468		NaN											0	0	0	0.01441	0	37	116				
OR10Z1	128368	broad.mit.edu	37	1	158576243	158576243	+	Missense_Mutation	SNP	C	C	G	rs140704584	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:158576243C>G	uc010pio.1	+	1	15	c.15C>G	c.(13-15)AAC>AAG	p.N5K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GGCAGACCAACGTAACCTCCT	0.468		NaN											0	0	0	0.001168	0	6	66				
NCSTN	23385	broad.mit.edu	37	1	160328025	160328025	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:160328025C>T	uc001fvx.2	+	17	2218	c.2094C>T	c.(2092-2094)TTC>TTT	p.F698F	NCSTN_uc001fvy.2_Silent_p.F678F|NCSTN_uc010pjf.1_Silent_p.F560F|NCSTN_uc001fvz.2_Silent_p.F478F|NCSTN_uc010pjg.1_Silent_p.F440F	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	698	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCTTTTCATTGCTCCCC	0.557		NaN											0	0	0	0.01441	0	51	601				
NOS1AP	9722	broad.mit.edu	37	1	162337159	162337159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:162337159G>T	uc001gbv.2	+	10	1810	c.1423G>T	c.(1423-1425)GAG>TAG	p.E475*	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Nonsense_Mutation_p.E470*|NOS1AP_uc009wut.1_Nonsense_Mutation_p.E180*	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	475					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CGAGAGCGAGGAGCGCGACTC	0.657		NaN											1	0	0.00198382	0.001984	0.00201778	7	97				
TEDDM1	127670	broad.mit.edu	37	1	182368982	182368982	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:182368982C>T	uc001gpe.2	-	1	770	c.639G>A	c.(637-639)CTG>CTA	p.L213L		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	putative membrane protein HE9	213	Helical; (Potential).					integral to membrane				ovary(2)	2						AGATTCCCAACAGGAATGAGG	0.488		NaN											0	0	0	0.007413	0	18	25				
LAMC1	3915	broad.mit.edu	37	1	183086502	183086502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:183086502C>G	uc001gpy.3	+	9	1869	c.1612C>G	c.(1612-1614)CTC>GTC	p.L538V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	538	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAGCATCTCTCGAGTGGTC	0.488		NaN											0	0	0	0.007291	0	24	15				
CACNA1S	779	broad.mit.edu	37	1	201030503	201030503	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:201030503G>A	uc001gvv.2	-	25	3374	c.3147C>T	c.(3145-3147)ATC>ATT	p.I1049I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1049	III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAATGAGGATGATGTAGATGA	0.512		NaN											0	0	0	0.012213	0	32	33				
CTSE	1510	broad.mit.edu	37	1	206320303	206320303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:206320303G>A	uc001hdu.2	+	4	564	c.446G>A	c.(445-447)GGA>GAA	p.G149E	CTSE_uc001hdv.2_Missense_Mutation_p.G149E|CTSE_uc010prs.1_Missense_Mutation_p.G74E	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	149					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGGATCATTGGAGCCGACCAA	0.493		NaN											0	0	0	0.013726	0	30	35				
IL24	11009	broad.mit.edu	37	1	207072706	207072706	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:207072706A>G	uc001hes.1	+	3	360	c.86A>G	c.(85-87)CAG>CGG	p.Q29R	IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.Q30R|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.Q30R|IL24_uc001hex.1_Intron	NM_006850	NP_006841	Q13007	IL24_HUMAN	interleukin 24 isoform 1 precursor	29					apoptosis	extracellular space	cytokine activity				0	Breast(84;0.201)					TCTCAAATGCAGATGGTTGTG	0.587		NaN											0	0	0	0.010771	0	38	29				
PFKFB2	5208	broad.mit.edu	37	1	207241622	207241622	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:207241622G>A	uc001hfg.2	+	10	1064	c.955G>A	c.(955-957)GAG>AAG	p.E319K	PFKFB2_uc010psc.1_Missense_Mutation_p.E221K|PFKFB2_uc001hfh.2_Missense_Mutation_p.E319K|PFKFB2_uc009xcc.2_Missense_Mutation_p.E277K|PFKFB2_uc010psd.1_Missense_Mutation_p.E133K	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	319	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					GGTGCCCTATGAGCAGTGGAA	0.473		NaN											0	0	0	0.006122	0	17	12				
USH2A	7399	broad.mit.edu	37	1	216062088	216062088	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:216062088C>T	uc001hku.1	-	41	8290	c.7903G>A	c.(7903-7905)GAT>AAT	p.D2635N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2635	Extracellular (Potential).|Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGGAGTATCAGAGAACAGC	0.498		NaN								HNSCC(13;0.011)			0	0	0	0.00245	0	15	21				
NVL	4931	broad.mit.edu	37	1	224420909	224420909	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:224420909C>G	uc001hok.2	-	21	2492	c.2449G>C	c.(2449-2451)GAA>CAA	p.E817Q	NVL_uc001hol.2_Missense_Mutation_p.E711Q|NVL_uc010pvd.1_Missense_Mutation_p.E726Q|NVL_uc010pve.1_Missense_Mutation_p.E628Q|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	817						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		GTACCTTTTTCATTTCCACTC	0.383		NaN											0	0	0	0.008871	0	18	57				
NVL	4931	broad.mit.edu	37	1	224477270	224477270	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:224477270C>T	uc001hok.2	-	13	1534	c.1491G>A	c.(1489-1491)CAG>CAA	p.Q497Q	NVL_uc001hol.2_Silent_p.Q391Q|NVL_uc010pvd.1_Silent_p.Q406Q|NVL_uc010pve.1_Silent_p.Q308Q|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	497						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		GATTTTTCTTCTGCTGTTCCT	0.473		NaN											0	0	0	0.014323	0	23	35				
PSEN2	5664	broad.mit.edu	37	1	227071519	227071519	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:227071519G>A	uc009xeo.1	+	5	682	c.255G>A	c.(253-255)GCG>GCA	p.A85A	PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	85	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				AATACGGAGCGAAGCACGTGA	0.582		NaN											0	0	0	0.004878	0	34	131				
LYST	1130	broad.mit.edu	37	1	235972637	235972637	+	Missense_Mutation	SNP	G	G	A	rs115019462	by1000genomes	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:235972637G>A	uc001hxj.2	-	5	1656	c.1481C>T	c.(1480-1482)TCG>TTG	p.S494L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S494L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	494					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTACACATCGAATGATGAAG	0.398		NaN							Chediak-Higashi_syndrome				0	0	0	0.00632	0	26	47				
GPR158	57512	broad.mit.edu	37	10	25465209	25465209	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:25465209C>A	uc001isj.2	+	1	920	c.860C>A	c.(859-861)TCT>TAT	p.S287Y	LOC100128811_uc010qde.1_5'Flank	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	287	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ACTCTTTCCTCTGCCATCTAC	0.612		NaN											1	0	1.56738e-10	0.004289	1.64344e-10	28	22				
ARMC4	55130	broad.mit.edu	37	10	28151397	28151397	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28151397C>A	uc009xky.2	-	18	2863	c.2765G>T	c.(2764-2766)GGA>GTA	p.G922V	ARMC4_uc010qds.1_Missense_Mutation_p.G447V|ARMC4_uc010qdt.1_Missense_Mutation_p.G614V|ARMC4_uc001itz.2_Missense_Mutation_p.G922V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	922	ARM 8.						binding			ovary(4)|skin(2)	6						AGGAACAACTCCATGATCTGT	0.299		NaN											1	0	1.91123e-38	0.01441	2.08684e-38	62	61				
MPP7	143098	broad.mit.edu	37	10	28409311	28409311	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28409311G>C	uc001iua.1	-	12	1103	c.699C>G	c.(697-699)ATC>ATG	p.I233M	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.I233M|MPP7_uc009xla.2_Missense_Mutation_p.I233M|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	233	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						AGAGGGCTTTGATAAACATCT	0.338		NaN											0	0	0	0.010818	0	31	36				
WAC	51322	broad.mit.edu	37	10	28897267	28897267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28897267C>T	uc001iuf.2	+	8	1157	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	WAC_uc001iud.2_Nonsense_Mutation_p.Q313*|WAC_uc001iue.2_Nonsense_Mutation_p.Q48*|WAC_uc009xlb.2_Nonsense_Mutation_p.Q313*|WAC_uc001iug.2_Nonsense_Mutation_p.Q255*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q313*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	358					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						TCCCTTACTTCAGGACCCAAA	0.458		NaN											0	0	0	0.001984	0	6	37				
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:37430773G>A	uc001iza.1	+	7	879	c.780G>A	c.(778-780)ACG>ACA	p.T260T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CACCTGACACGGCTGAAAGCT	0.493		NaN											0	0	0	0.004672	0	3	71				
TMEM72	643236	broad.mit.edu	37	10	45430144	45430144	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:45430144G>C	uc001jbn.2	+	5	587	c.390G>C	c.(388-390)CTG>CTC	p.L130L	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L12L	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	130	Helical; (Potential).					integral to membrane					0						ACTTCCTTCTGAGCAAGCGGA	0.602		NaN											0	0	0	0.004007	0	16	148				
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:49393605G>A	uc001jgi.2	-	18	2457	c.2350C>T	c.(2350-2352)CGT>TGT	p.R784C	FRMPD2_uc001jgh.2_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.2_Missense_Mutation_p.R762C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502		NaN											0	0	0	0.00333	0	19	111				
PCDH15	65217	broad.mit.edu	37	10	55826641	55826641	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:55826641G>C	uc001jju.1	-	18	2491	c.2096C>G	c.(2095-2097)TCA>TGA	p.S699*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.S711*|PCDH15_uc010qht.1_Nonsense_Mutation_p.S706*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.S699*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.S662*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.S628*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qia.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qib.1_Nonsense_Mutation_p.S677*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.S699*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	699	Cadherin 6.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGGCAGTTGAGGTCTTAAA	0.368		NaN								HNSCC(58;0.16)			0	0	0	0.001984	0	6	89				
ARID5B	84159	broad.mit.edu	37	10	63852165	63852165	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:63852165G>C	uc001jlt.1	+	10	2969	c.2943G>C	c.(2941-2943)GTG>GTC	p.V981V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	981					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CTCACCATGTGAGACTGGAGA	0.537		NaN											0	0	0	0.013726	0	32	131				
STOX1	219736	broad.mit.edu	37	10	70645249	70645249	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:70645249T>C	uc001jos.2	+	3	1784	c.1697T>C	c.(1696-1698)ATA>ACA	p.I566T	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.I456T	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	566						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						TCCATTTACATAAATGACCCT	0.418		NaN											0	0	0	0.003163	0	14	62				
KIAA1279	26128	broad.mit.edu	37	10	70748916	70748916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:70748916G>A	uc001joy.2	+	1	424	c.328G>A	c.(328-330)GAG>AAG	p.E110K		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	110					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CGACACGGAGGAGCTGTCGGC	0.682		NaN											0	0	0	0.00623	0	31	35				
KIAA1274	27143	broad.mit.edu	37	10	72300935	72300935	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:72300935C>A	uc001jrd.3	+	16	2267	c.1986C>A	c.(1984-1986)CTC>CTA	p.L662L	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	662										ovary(2)|central_nervous_system(1)	3						TCAGCTGCCTCAGCGGCCAGG	0.607		NaN											1	0	1.80625e-27	0.01441	1.96021e-27	62	67				
PSAP	5660	broad.mit.edu	37	10	73581638	73581638	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:73581638T>C	uc001jsm.2	-	8	1008	c.904A>G	c.(904-906)ATT>GTT	p.I302V	PSAP_uc001jsl.2_Missense_Mutation_p.I26V	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	302					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						GGTACCTTAATGGGCTCCACC	0.408		NaN											0	0	0	0.013726	0	26	58				
GHITM	27069	broad.mit.edu	37	10	85903844	85903844	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:85903844G>A	uc001kcs.1	+	4	527	c.323G>A	c.(322-324)GGA>GAA	p.G108E	GHITM_uc010qma.1_Missense_Mutation_p.E64K|GHITM_uc010qmb.1_Missense_Mutation_p.G38E	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	108	Mitochondrial intermembrane (Potential).				apoptosis	integral to membrane|mitochondrial inner membrane					0						AATGAGATTGGAGCTATTGAA	0.398		NaN											0	0	0	0.01441	0	55	40				
PIK3AP1	118788	broad.mit.edu	37	10	98408463	98408463	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:98408463C>G	uc001kmq.2	-	7	1266	c.1138G>C	c.(1138-1140)GAG>CAG	p.E380Q	PIK3AP1_uc001kmp.2_Missense_Mutation_p.E202Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	380						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGTGTTTCTCAGCGATGGTG	0.572		NaN											0	0	0	0.008361	0	25	23				
RRP12	23223	broad.mit.edu	37	10	99160214	99160214	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:99160214C>T	uc001knf.2	-	2	356	c.217G>A	c.(217-219)GAA>AAA	p.E73K	RRP12_uc010qou.1_Missense_Mutation_p.E73K|RRP12_uc009xvn.2_Missense_Mutation_p.E73K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	73						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCGGGGCTTCGCTTTTGCCC	0.562		NaN											0	0	0	0.01441	0	50	49				
GSTO1	9446	broad.mit.edu	37	10	106022765	106022765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:106022765G>A	uc001kya.2	+	4	404	c.395G>A	c.(394-396)AGA>AAA	p.R132K		NM_004832	NP_004823	P78417	GSTO1_HUMAN	glutathione-S-transferase omega 1	132	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AGCTTTATTAGAAGCCAAAAT	0.368		NaN											0	0	0	0.001855	0	11	13				
GPAM	57678	broad.mit.edu	37	10	113928632	113928632	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:113928632G>C	uc009xxy.1	-	10	1071	c.873C>G	c.(871-873)CTC>CTG	p.L291L	GPAM_uc001kzp.2_Silent_p.L291L|GPAM_uc001kzq.1_Silent_p.L291L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	291					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGCTCTATAGAGAACATCTT	0.408		NaN											0	0	0	0.006999	0	31	30				
GPAM	57678	broad.mit.edu	37	10	113928680	113928680	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:113928680G>A	uc009xxy.1	-	10	1023	c.825C>T	c.(823-825)TTC>TTT	p.F275F	GPAM_uc001kzp.2_Silent_p.F275F|GPAM_uc001kzq.1_Silent_p.F275F	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	275					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		TTCGTCGTATGAAGAAGCCCC	0.373		NaN											0	0	0	0.004289	0	27	34				
FAM160B1	57700	broad.mit.edu	37	10	116621198	116621198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:116621198G>A	uc001lcb.2	+	17	2532	c.2197G>A	c.(2197-2199)GAC>AAC	p.D733N	FAM160B1_uc001lcc.2_Intron	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	733										lung(1)	1						TACCAGTATTGACCACATCAC	0.368		NaN											0	0	0	0.004656	0	24	23				
TRUB1	142940	broad.mit.edu	37	10	116734976	116734976	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:116734976A>T	uc001lcd.2	+	8	949	c.888A>T	c.(886-888)ACA>ACT	p.T296T	TRUB1_uc010qsl.1_Silent_p.T198T	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	296					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACAAATGGACAATTGATGACA	0.433		NaN											0	0	0	0.01441	0	69	69				
FAM45A	404636	broad.mit.edu	37	10	120892117	120892117	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:120892117T>C	uc001ldw.2	+	8	937	c.893T>C	c.(892-894)ATA>ACA	p.I298T	FAM45A_uc010qsv.1_Missense_Mutation_p.I290T|FAM45A_uc010qsw.1_Missense_Mutation_p.I147T|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.I225T|FAM45A_uc010qsz.1_Missense_Mutation_p.I187T	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	298										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AGCCACGTTATACAGGTAACT	0.522		NaN											0	0	0	0.01441	0	113	54				
ATE1	11101	broad.mit.edu	37	10	123658448	123658448	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:123658448A>G	uc001lfp.2	-	7	932	c.850T>C	c.(850-852)TTC>CTC	p.F284L	ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Missense_Mutation_p.F188L|ATE1_uc010qtt.1_Missense_Mutation_p.F277L|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	284					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACGACTTGAACTCTGGGTCC	0.438		NaN											0	0	0	0.01441	0	44	27				
TACC2	10579	broad.mit.edu	37	10	123844550	123844550	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:123844550C>G	uc001lfv.2	+	4	2895	c.2535C>G	c.(2533-2535)CTC>CTG	p.L845L	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L845L|TACC2_uc010qtv.1_Silent_p.L845L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	845						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTGACGTGCTCAAGGAGCAGG	0.527		NaN											0	0	0	0.01441	0	103	66				
PPP2R2D	55844	broad.mit.edu	37	10	133757494	133757494	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:133757494A>G	uc001lks.2	+	4	644	c.401A>G	c.(400-402)GAT>GGT	p.D134G	PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Missense_Mutation_p.D2G	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	167					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		AAGCCCATGGATCTTATGGTA	0.343		NaN											0	0	0	0.00308	0	8	8				
SYCE1	93426	broad.mit.edu	37	10	135369290	135369290	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:135369290G>A	uc001lno.2	-	10	818	c.713C>T	c.(712-714)GCC>GTC	p.A238V	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.A110V|SYCE1_uc009ybn.2_Missense_Mutation_p.A238V|SYCE1_uc001lnn.2_Missense_Mutation_p.A202V	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	238	Potential.				cell division	central element				ovary(1)	1		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTACACTGTGGCTGCAGCCTC	0.632		NaN											0	0	0	0.01441	0	52	32				
FRG2B	441581	broad.mit.edu	37	10	135439041	135439041	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:135439041G>T	uc010qvg.1	-	4	452	c.399C>A	c.(397-399)CAC>CAA	p.H133Q		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	133						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTCACTGTTGTGCACAGGAG	0.532		NaN											1	0	1.90571e-15	0.004289	2.02499e-15	38	59				
TRPM5	29850	broad.mit.edu	37	11	2432685	2432685	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:2432685C>G	uc001lwm.3	-	18	2688	c.2679G>C	c.(2677-2679)GCG>GCC	p.A893A	TRPM5_uc010qxl.1_Silent_p.A893A|TRPM5_uc009ydn.2_Silent_p.A895A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	893	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTGCAGCAGCGCCTGGGTGG	0.632		NaN											0	0	0	0.009718	0	44	30				
OR6A2	8590	broad.mit.edu	37	11	6816047	6816047	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:6816047C>T	uc001mes.1	-	1	1093	c.893G>A	c.(892-894)CGC>CAC	p.R298H		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGATTGCGCAGGCAGTA	0.488		NaN											0	0	0	0.003755	0	30	73				
C11orf16	56673	broad.mit.edu	37	11	8947368	8947368	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:8947368G>C	uc001mhb.3	-	5	970	c.846C>G	c.(844-846)CTC>CTG	p.L282L	C11orf16_uc001mhc.3_Silent_p.L282L	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	282										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCAGCCACAGAGGCAGCCCT	0.592		NaN											0	0	0	0.01441	0	88	78				
IPO7	10527	broad.mit.edu	37	11	9435902	9435902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:9435902G>A	uc001mho.2	+	5	722	c.580G>A	c.(580-582)GAT>AAT	p.D194N		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	194					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGACCAGTCTGATCAGTCTGT	0.398		NaN											0	0	0	0.01441	0	66	68				
PDE3B	5140	broad.mit.edu	37	11	14665990	14665990	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:14665990C>T	uc001mln.2	+	1	722	c.369C>T	c.(367-369)TTC>TTT	p.F123F	PDE3B_uc001mlm.2_Silent_p.F123F|PDE3B_uc010rcr.1_Silent_p.F123F|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	123	Helical; (Potential).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						GCCCCCTCTTCAGCATCGCCT	0.716		NaN											0	0	0	0.00623	0	33	32				
E2F8	79733	broad.mit.edu	37	11	19256466	19256466	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:19256466C>T	uc001mpm.2	-	5	1113	c.591G>A	c.(589-591)GGG>GGA	p.G197G	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.G197G	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	197					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TATTCTCCTCCCCGATGCTCT	0.428		NaN											0	0	0	0.010504	0	15	86				
MADD	8567	broad.mit.edu	37	11	47350217	47350217	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:47350217A>G	uc001ner.1	+	35	4992	c.4801A>G	c.(4801-4803)ATT>GTT	p.I1601V	MADD_uc001neq.2_Missense_Mutation_p.I1542V|MADD_uc001nev.1_Silent_p.K1475K|MADD_uc001nes.1_Missense_Mutation_p.I1519V|MADD_uc001net.1_Missense_Mutation_p.I1562V|MADD_uc009yln.1_Missense_Mutation_p.I1495V|MADD_uc001neu.1_Missense_Mutation_p.I1499V|MADD_uc001nex.2_Silent_p.K1577K|MADD_uc001nez.2_Missense_Mutation_p.I1498V|MADD_uc001new.2_Missense_Mutation_p.I1541V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1601					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		AGTTCCTGAAATTAAAGAAGT	0.577		NaN											0	0	0	0.003163	0	13	43				
OR9G4	283189	broad.mit.edu	37	11	56510978	56510978	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:56510978C>T	uc010rjo.1	-	1	310	c.310G>A	c.(310-312)GAT>AAT	p.D104N		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	104	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ATGCGCTTATCTTCTGAGACA	0.458		NaN											0	0	0	0.01441	0	57	77				
MRPL16	54948	broad.mit.edu	37	11	59578113	59578113	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:59578113G>A	uc001noh.2	-	1	233	c.19C>T	c.(19-21)CGC>TGC	p.R7C		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	7							rRNA binding			central_nervous_system(1)	1						GCACTAGCGCGAGCCAGCAGC	0.652		NaN											0	0	0	0.01441	0	45	80				
MS4A4A	51338	broad.mit.edu	37	11	60070049	60070049	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:60070049A>G	uc001noz.2	+	5	415	c.405A>G	c.(403-405)GGA>GGG	p.G135G	MS4A4A_uc001npa.2_Silent_p.G116G|MS4A4A_uc001npb.2_Silent_p.G116G|MS4A4A_uc001npc.2_Intron	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	135	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GTAGTCTAGGAATGAATATCA	0.303		NaN											0	0	0	0.004007	0	14	69				
DDB1	1642	broad.mit.edu	37	11	61099151	61099151	+	Missense_Mutation	SNP	G	G	A	rs35597036		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61099151G>A	uc001nrc.3	-	2	300	c.74C>T	c.(73-75)TCG>TTG	p.S25L	DDB1_uc010rle.1_Missense_Mutation_p.S25L|DDB1_uc010rlf.1_Missense_Mutation_p.S25L|DDB1_uc001nrd.2_Missense_Mutation_p.S25L|DDB1_uc009ynl.1_Missense_Mutation_p.S25L|DAK_uc001nre.2_5'Flank	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	25	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						GTCTTCGGCCGAAGTAAAGTG	0.468		NaN						NER					0	0	0	0.003954	0	19	70				
FADS1	3992	broad.mit.edu	37	11	61570834	61570834	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61570834C>T	uc010rlm.1	-	9	1376	c.1248_splice	c.e9+1	p.Q416_splice	FADS1_uc001nsh.2_Splice_Site_p.Q275_splice	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1						cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGTCCCTTACCTGGGTGGAA	0.458		NaN											0	0	0	0.01441	0	78	196				
FADS1	3992	broad.mit.edu	37	11	61580784	61580784	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61580784C>T	uc010rlm.1	-	2	545	c.417G>A	c.(415-417)AAG>AAA	p.K139K	FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.2_5'UTR|FADS1_uc010rln.1_5'UTR	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	82	Cytoplasmic (Potential).|Cytochrome b5 heme-binding.				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATATACTTCTTCACAAGGC	0.532		NaN											0	0	0	0.01441	0	103	154				
EML3	256364	broad.mit.edu	37	11	62376050	62376050	+	Silent	SNP	G	G	A	rs138198368		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62376050G>A	uc001ntu.1	-	9	1382	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	EML3_uc001ntr.1_Silent_p.F330F|EML3_uc001nts.1_Silent_p.F330F|EML3_uc001ntt.1_Silent_p.F242F|EML3_uc010rly.1_Silent_p.F358F|EML3_uc009yny.1_Silent_p.F141F	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	358	WD 2.					cytoplasm|microtubule	protein binding			ovary(1)	1						CACCCCGCTCGAAGGCCCCCA	0.597		NaN											0	0	0	0.01441	0	51	348				
TAF6L	10629	broad.mit.edu	37	11	62554200	62554200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62554200C>T	uc001nvc.2	+	11	1402	c.1301C>T	c.(1300-1302)TCG>TTG	p.S434L	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	434					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CCTTCTCTTTCGGTGACCCTG	0.692		NaN									OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008361	0	25	45				
SLC22A8	9376	broad.mit.edu	37	11	62760793	62760793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62760793C>G	uc001nwo.2	-	11	1681	c.1545G>C	c.(1543-1545)AAG>AAC	p.K515N	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.K392N|SLC22A8_uc010rmm.1_Missense_Mutation_p.K424N|SLC22A8_uc009yon.2_Missense_Mutation_p.K515N	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	515	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						GCTTTGGCTTCTTTGCCCGCA	0.632		NaN											0	0	0	0.010729	0	10	28				
MARK2	2011	broad.mit.edu	37	11	63666130	63666130	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:63666130G>A	uc001nxw.2	+	5	967	c.388G>A	c.(388-390)GAG>AAG	p.E130K	MARK2_uc001nxx.2_Missense_Mutation_p.E130K|MARK2_uc001nxy.2_Missense_Mutation_p.E130K|MARK2_uc001nxv.3_Missense_Mutation_p.E130K|MARK2_uc001nxz.3_Missense_Mutation_p.E97K|MARK2_uc009yoy.2_Missense_Mutation_p.E97K	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	130	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCTTGTCATGGAGTACGCTAG	0.498		NaN											0	0	0	0.01441	0	47	121				
PLCB3	5331	broad.mit.edu	37	11	64030227	64030227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:64030227C>T	uc001nzb.2	+	19	2302	c.2302C>T	c.(2302-2304)CAG>TAG	p.Q768*	PLCB3_uc009ypg.1_Nonsense_Mutation_p.Q768*|PLCB3_uc009yph.1_Nonsense_Mutation_p.Q701*|PLCB3_uc009ypi.2_Nonsense_Mutation_p.Q768*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	768	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CCGGACCTCTCAGGGGAACTC	0.637		NaN											0	0	0	0.01441	0	165	227				
CAPN1	823	broad.mit.edu	37	11	64972254	64972254	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:64972254C>G	uc009yqd.1	+	11	1377	c.1266C>G	c.(1264-1266)GCC>GCG	p.A422A	CAPN1_uc001odf.1_Silent_p.A422A|CAPN1_uc001odg.1_Silent_p.A422A|CAPN1_uc010roa.1_Silent_p.A163A	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	422	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCGTGCTCGCCCTTATGCAGA	0.637		NaN									OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009718	0	39	84				
KCNK7	10089	broad.mit.edu	37	11	65363055	65363055	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:65363055C>A	uc001oes.2	-	1	413	c.189G>T	c.(187-189)CTG>CTT	p.L63L	KCNK7_uc001oeq.2_Silent_p.L63L|KCNK7_uc001oer.2_Silent_p.L63L|KCNK7_uc001oeu.2_Silent_p.L63L	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	63						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GCAGCTCTTCCAGAGCTCCGG	0.687		NaN											1	0	0.000157383	0.00308	0.000160996	8	7				
SLC29A2	3177	broad.mit.edu	37	11	66134033	66134033	+	Missense_Mutation	SNP	C	C	T	rs141666252		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:66134033C>T	uc001oht.2	-	8	965	c.736G>A	c.(736-738)GAG>AAG	p.E246K	SLC29A2_uc001ohs.2_Missense_Mutation_p.E126K|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.E126K|SLC29A2_uc001ohu.2_Missense_Mutation_p.E246K|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	246					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						ATCCCGTTCTCATCTGGGGTG	0.577		NaN											0	0	0	0.012213	0	25	66				
INPPL1	3636	broad.mit.edu	37	11	71949115	71949115	+	Silent	SNP	C	C	T	rs34634942		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:71949115C>T	uc001osf.2	+	27	3729	c.3582C>T	c.(3580-3582)AGC>AGT	p.S1194S	INPPL1_uc001osg.2_Silent_p.S952S	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1194					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGCGGGCCAGCGGGCTGGGCG	0.652		NaN									OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	10	53				
ARHGEF17	9828	broad.mit.edu	37	11	73066682	73066682	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:73066682C>G	uc001otu.2	+	4	3579	c.3558C>G	c.(3556-3558)CTC>CTG	p.L1186L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1186	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						CTGCCTTTCTCAAGTTCCTAG	0.557		NaN											0	0	0	0.01441	0	34	88				
MYO7A	4647	broad.mit.edu	37	11	76903243	76903243	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:76903243T>A	uc001oyb.2	+	31	4344	c.4072T>A	c.(4072-4074)TCC>ACC	p.S1358T	MYO7A_uc010rsm.1_Missense_Mutation_p.S1347T|MYO7A_uc001oyc.2_Missense_Mutation_p.S1358T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.S569T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1358	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GCACAGCCCCTCCGAGGACAA	0.622		NaN									OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	79	107				
SYTL2	54843	broad.mit.edu	37	11	85456690	85456690	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:85456690C>T	uc010rth.1	-	3	655	c.379G>A	c.(379-381)GCA>ACA	p.A127T	SYTL2_uc010rtg.1_Missense_Mutation_p.A127T|SYTL2_uc010rti.1_Missense_Mutation_p.A127T|SYTL2_uc010rtj.1_Missense_Mutation_p.A79T|SYTL2_uc001pbf.3_Missense_Mutation_p.A127T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	127					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCGGGCTTGCTGGTGCTGCA	0.532		NaN											0	0	0	0.01441	0	78	192				
TYR	7299	broad.mit.edu	37	11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:88911234C>T	uc001pcs.2	+	1	195	c.113C>T	c.(112-114)CCG>CTG	p.P38L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	38	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547		NaN							Oculocutaneous_Albinism				0	0	0	0.01441	0	48	50				
GPR83	10888	broad.mit.edu	37	11	94134384	94134384	+	Silent	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:94134384G>T	uc001pet.2	-	1	202	c.30C>A	c.(28-30)CTC>CTA	p.L10L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	10						integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAGGGGAGGAGACAGAGCA	0.711		NaN											1	0	2.94398e-08	0.007413	3.06432e-08	18	46				
KDM4DL	390245	broad.mit.edu	37	11	94759441	94759441	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:94759441G>C	uc010ruf.1	+	1	1020	c.720G>C	c.(718-720)CGG>CGC	p.R240R		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4D-like	240	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCTTCCTGCGGCACAAAGTGG	0.562		NaN											0	0	0	0.006122	0	17	20				
CWF19L2	143884	broad.mit.edu	37	11	107205622	107205622	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:107205622T>A	uc010rvp.1	-	16	2454	c.2424A>T	c.(2422-2424)AAA>AAT	p.K808N	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	808							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCTGATATCTTTTGAAGAGA	0.338		NaN											0	0	0	0.003163	0	12	77				
KDELC2	143888	broad.mit.edu	37	11	108357021	108357021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:108357021G>A	uc001pkj.2	-	3	613	c.547C>T	c.(547-549)CCC>TCC	p.P183S	KDELC2_uc001pki.2_Missense_Mutation_p.P127S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	183						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AACCTTTTGGGGACTTCTTTT	0.423		NaN											0	0	0	0.01441	0	67	76				
PCSK7	9159	broad.mit.edu	37	11	117089803	117089803	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:117089803G>C	uc001pqr.2	-	11	1602	c.1401C>G	c.(1399-1401)CTC>CTG	p.L467L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	467	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGGCGTTGAGGAGGCCGA	0.602		NaN	T	IGH@	MLCLS								0	0	0	0.009535	0	25	17				
DSCAML1	57453	broad.mit.edu	37	11	117392001	117392001	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:117392001C>T	uc001prh.1	-	6	1239	c.1237G>A	c.(1237-1239)GAG>AAG	p.E413K	DSCAML1_uc001pri.1_Missense_Mutation_p.E217K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGA	0.627		NaN											0	0	0	0.01441	0	100	81				
VPS11	55823	broad.mit.edu	37	11	118948319	118948319	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:118948319C>T	uc010ryx.1	+	10	1576	c.1534C>T	c.(1534-1536)CAT>TAT	p.H512Y	VPS11_uc010ryy.1_Missense_Mutation_p.H358Y	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	512	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCATGCACATCATGAGTGGTA	0.393		NaN											0	0	0	0.004482	0	8	14				
H2AFX	3014	broad.mit.edu	37	11	118965872	118965872	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:118965872C>T	uc001pvg.2	-	1	306	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	H2AFX_uc001pvh.1_RNA	NM_002105	NP_002096	P16104	H2AX_HUMAN	H2A histone family, member X	78				R -> L (in Ref. 2; CAG33360).	DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGGGATGATTCGCGTCTTCTT	0.682		NaN						Chromatin_Structure|Direct_reversal_of_damage			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	38	225				
MCAM	4162	broad.mit.edu	37	11	119181614	119181614	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119181614C>T	uc001pwf.2	-	14	1675	c.1646_splice	c.e14-1	p.E549_splice	MCAM_uc001pwg.1_Splice_Site	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule						anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGCTTTCTCTCTGCGCCACAA	0.632		NaN											0	0	0	0.007835	0	34	182				
MCAM	4162	broad.mit.edu	37	11	119182861	119182861	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119182861C>T	uc001pwf.2	-	9	1073	c.1044G>A	c.(1042-1044)GTG>GTA	p.V348V	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	348	Ig-like C2-type 2.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGCGGGACTCACTCGGACGT	0.627		NaN											0	0	0	0.00499	0	15	93				
MCAM	4162	broad.mit.edu	37	11	119183625	119183625	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119183625C>G	uc001pwf.2	-	6	623	c.594G>C	c.(592-594)TCG>TCC	p.S198S	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	198	Ig-like V-type 2.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACAAACCACTCGACTCCACAG	0.562		NaN											0	0	0	0.008871	0	18	94				
PANX3	116337	broad.mit.edu	37	11	124489817	124489817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:124489817G>C	uc001qah.2	+	4	1165	c.1165G>C	c.(1165-1167)GAT>CAT	p.D389H	TBRG1_uc001qak.3_5'Flank|TBRG1_uc001qaj.3_5'Flank|TBRG1_uc001qal.3_5'Flank|TBRG1_uc001qam.3_5'Flank|TBRG1_uc009zbf.2_5'Flank|TBRG1_uc009zbg.2_5'Flank|TBRG1_uc001qai.1_5'Flank	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	389	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCGGCATGTGATGAACACCC	0.418		NaN											0	0	0	0.006999	0	34	47				
PKNOX2	63876	broad.mit.edu	37	11	125280125	125280125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:125280125G>C	uc001qbu.2	+	8	936	c.622G>C	c.(622-624)GGA>CGA	p.G208R	PKNOX2_uc010saz.1_Missense_Mutation_p.G179R|PKNOX2_uc010sba.1_Missense_Mutation_p.G179R|PKNOX2_uc010sbb.1_Missense_Mutation_p.G144R|PKNOX2_uc001qbv.2_5'Flank	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572		NaN											0	0	0	0.01441	0	108	217				
JAM3	83700	broad.mit.edu	37	11	134010623	134010623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:134010623G>A	uc001qhb.1	+	3	373	c.349G>A	c.(349-351)GAT>AAT	p.D117N	JAM3_uc009zcz.1_Missense_Mutation_p.D117N	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	72	Extracellular (Potential).|Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GAAAATTCAAGATGAACAAAC	0.438		NaN											0	0	0	0.00308	0	6	58				
GLB1L2	89944	broad.mit.edu	37	11	134238561	134238561	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:134238561A>G	uc001qhp.2	+	10	1101	c.913A>G	c.(913-915)ATT>GTT	p.I305V	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	305					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTCTGCCATTGTGGACGC	0.532		NaN											0	0	0	0.001855	0	12	72				
IQSEC3	440073	broad.mit.edu	37	12	284199	284199	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:284199G>C	uc001qhw.1	+	11	2646	c.2640G>C	c.(2638-2640)TAG>TAC	p.*880Y		NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	880	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCTGGTGTAGACTCTGCCCC	0.692		NaN											0	0	0	0.006122	0	16	15				
WNK1	65125	broad.mit.edu	37	12	862795	862795	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:862795G>T	uc001qio.3	+	1	571	c.64G>T	c.(64-66)GCT>TCT	p.A22S	WNK1_uc001qin.2_Missense_Mutation_p.A22S|WNK1_uc001qip.3_Missense_Mutation_p.A22S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	22					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTCGCCGCCGGCTCCTGCCCC	0.682		NaN											1	0	1.10923e-09	0.00278	1.15626e-09	20	37				
NRIP2	83714	broad.mit.edu	37	12	2944040	2944040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:2944040G>A	uc001qlc.2	-	1	182	c.110C>T	c.(109-111)CCC>CTC	p.P37L	NRIP2_uc010sed.1_Missense_Mutation_p.P37L|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	37					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCGGTGGGGGCGTCACCGA	0.632		NaN											0	0	0	0.011902	0	44	94				
C1S	716	broad.mit.edu	37	12	7175803	7175803	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:7175803G>A	uc001qsj.2	+	14	1958	c.1239G>A	c.(1237-1239)GTG>GTA	p.V413V	C1S_uc001qsk.2_Silent_p.V413V|C1S_uc001qsl.2_Silent_p.V413V|C1S_uc009zfr.2_Silent_p.V246V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	413	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGAATGAGGTGCTGGGCCCGG	0.552		NaN											0	0	0	0.01441	0	44	106				
A2M	2	broad.mit.edu	37	12	9242527	9242527	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:9242527C>G	uc001qvk.1	-	21	2802	c.2689G>C	c.(2689-2691)GAC>CAC	p.D897H	A2M_uc009zgk.1_Missense_Mutation_p.D747H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	897					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGACTGTGTCTTTCCTTCCG	0.368		NaN											0	0	0	0.00499	0	16	42				
MANSC1	54682	broad.mit.edu	37	12	12483694	12483694	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:12483694A>G	uc001rai.1	-	4	821	c.563T>C	c.(562-564)ATG>ACG	p.M188T	MANSC1_uc010shm.1_Missense_Mutation_p.M122T|MANSC1_uc001raj.1_Missense_Mutation_p.M154T|MANSC1_uc009zht.1_Missense_Mutation_p.M107T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	188	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TGCTTCATCCATCTTAAATAG	0.418		NaN											0	0	0	0.004656	0	21	38				
SLCO1A2	6579	broad.mit.edu	37	12	21453315	21453315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:21453315C>T	uc001rer.2	-	7	1128	c.877G>A	c.(877-879)GAG>AAG	p.E293K	SLCO1A2_uc001res.2_Missense_Mutation_p.E293K|SLCO1A2_uc010siq.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sio.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sip.1_Missense_Mutation_p.E161K|SLCO1A2_uc001ret.2_Missense_Mutation_p.E291K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E273K	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	293	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TTCTTGACCTCTTCTTTTTGT	0.299		NaN											0	0	0	0.009096	0	3	15				
SLCO1A2	6579	broad.mit.edu	37	12	21453473	21453473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:21453473C>T	uc001rer.2	-	7	970	c.719G>A	c.(718-720)CGT>CAT	p.R240H	SLCO1A2_uc001res.2_Missense_Mutation_p.R240H|SLCO1A2_uc010siq.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sio.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sip.1_Missense_Mutation_p.R108H|SLCO1A2_uc001ret.2_Missense_Mutation_p.R238H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R220H	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	240	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ACCGACCCAACGAGTGTCAGT	0.383		NaN											0	0	0	0.004672	0	3	25				
STK38L	23012	broad.mit.edu	37	12	27470859	27470859	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:27470859A>G	uc001rhr.2	+	11	1185	c.986A>G	c.(985-987)CAA>CGA	p.Q329R	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.Q236R|STK38L_uc010sjn.1_Missense_Mutation_p.Q67R|STK38L_uc010sjo.1_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	329	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					GAAACACCTCAAGAAACGTAC	0.383		NaN											0	0	0	0.013537	0	11	21				
DENND5B	160518	broad.mit.edu	37	12	31632937	31632937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:31632937C>A	uc001rki.1	-	3	676	c.490G>T	c.(490-492)GAA>TAA	p.E164*	DENND5B_uc001rkh.1_Nonsense_Mutation_p.E199*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.E83*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.E186*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.E86*	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	164						integral to membrane				ovary(1)|central_nervous_system(1)	2						GTATCTCCTTCATCAAGACTA	0.423		NaN											1	0	1.76056e-25	0.011902	1.90193e-25	40	79				
MLL2	8085	broad.mit.edu	37	12	49443747	49443747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49443747G>C	uc001rta.3	-	11	3624	c.3624C>G	c.(3622-3624)ATC>ATG	p.I1208M		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1208					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCAGATTAGAGATCTCGTTAA	0.607		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.004656	0	26	43		Valid		
LMBR1L	55716	broad.mit.edu	37	12	49494208	49494208	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49494208G>A	uc001rth.3	-	15	1545	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	LMBR1L_uc001rtg.3_Silent_p.V396V|LMBR1L_uc001rti.3_Silent_p.V381V	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	401	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						CTGAGCTTAGGACCAGGAGAC	0.453		NaN											0	0	0	0.01441	0	49	105				
TROAP	10024	broad.mit.edu	37	12	49724323	49724323	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49724323G>T	uc001rtx.3	+	13	1862	c.1695G>T	c.(1693-1695)GAG>GAT	p.E565D	TROAP_uc009zlh.2_Missense_Mutation_p.E565D|TROAP_uc001rty.2_Missense_Mutation_p.E273D	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	565	4 X 33 AA approximate tandem repeats.|Cys-rich.|2.				cell adhesion	cytoplasm				ovary(1)	1						GTGAGCCTGAGATACCGGAGT	0.592		NaN											1	0	4.14922e-12	0.004007	4.37632e-12	15	56				
NCKAP5L	57701	broad.mit.edu	37	12	50189089	50189089	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50189089C>T	uc009zlk.2	-	8	2756	c.2554G>A	c.(2554-2556)GAC>AAC	p.D852N	NCKAP5L_uc001rvc.3_Missense_Mutation_p.D56N|NCKAP5L_uc001rvb.2_Missense_Mutation_p.D445N	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	848	Pro-rich.									central_nervous_system(1)	1						CTACCACAGTCTGCCCAGGGA	0.647		NaN											0	0	0	0.00623	0	32	146				
LIMA1	51474	broad.mit.edu	37	12	50615999	50615999	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50615999G>C	uc001rwj.3	-	4	609	c.435C>G	c.(433-435)ATC>ATG	p.I145M	LIMA1_uc001rwh.3_Translation_Start_Site|LIMA1_uc001rwi.3_Translation_Start_Site|LIMA1_uc001rwk.3_Missense_Mutation_p.I145M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	145					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						CACCGTCCTTGATGTGGGGAT	0.453		NaN											0	0	0	0.010729	0	11	53				
LIMA1	51474	broad.mit.edu	37	12	50616215	50616215	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50616215C>T	uc001rwj.3	-	4	393	c.219G>A	c.(217-219)AAG>AAA	p.K73K	LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Silent_p.K73K|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	73					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						CCCACTTCTTCTTTAACACAG	0.498		NaN											0	0	0	0.01441	0	58	89				
ATF1	466	broad.mit.edu	37	12	51207891	51207891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:51207891C>T	uc001rww.3	+	5	705	c.427C>T	c.(427-429)CAG>TAG	p.Q143*	ATF1_uc010smu.1_Nonsense_Mutation_p.Q8*	NM_005171	NP_005162	P18846	ATF1_HUMAN	activating transcription factor 1	143					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(323)|FUS/ATF1(4)	soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2)	329						AGGCAGTACTCAGCAAGGTAC	0.468		NaN	T	EWSR1|FUS	malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 								0	0	0	0.001855	0	14	63				
NCKAP1L	3071	broad.mit.edu	37	12	54920519	54920519	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:54920519C>T	uc001sgc.3	+	21	2443	c.2364C>T	c.(2362-2364)CTC>CTT	p.L788L	NCKAP1L_uc010sox.1_Silent_p.L330L|NCKAP1L_uc010soy.1_Silent_p.L738L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	788					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TCACCACACTCTACACAAACT	0.512		NaN											0	0	0	0.004007	0	15	20				
STAT2	6773	broad.mit.edu	37	12	56749506	56749506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:56749506G>A	uc001slc.2	-	4	445	c.367C>T	c.(367-369)CAG>TAG	p.Q123*	STAT2_uc001sld.2_Nonsense_Mutation_p.Q119*|STAT2_uc010sqn.1_Nonsense_Mutation_p.Q119*	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	123					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TGGGCCCTCTGAGCCTGGATC	0.453		NaN											0	0	0	0.01441	0	44	74				
STAC3	246329	broad.mit.edu	37	12	57638146	57638146	+	Silent	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:57638146T>A	uc001snp.2	-	10	1005	c.810A>T	c.(808-810)CCA>CCT	p.P270P	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.P231P|STAC3_uc010srm.1_Silent_p.P84P	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	270	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TCTTCTCTCCTGGCCTGGGAG	0.587		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	19	71				
C12orf56	115749	broad.mit.edu	37	12	64784273	64784273	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:64784273G>T	uc001ssa.3	-	1	73	c.73C>A	c.(73-75)CTG>ATG	p.L25M	uc001srx.2_Intron	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	25											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCGGGCGGCAGATGCCGCCGC	0.682		NaN											1	0	9.65021e-13	0.010818	1.01935e-12	29	46				
IRAK3	11213	broad.mit.edu	37	12	66605248	66605248	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:66605248C>G	uc001sth.2	+	5	561	c.459C>G	c.(457-459)ATC>ATG	p.I153M	IRAK3_uc010ssy.1_Missense_Mutation_p.I92M	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	153					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		AATCTTCCATCAGCTTTCAAA	0.343		NaN											0	0	0	0.010729	0	10	14				
FRS2	10818	broad.mit.edu	37	12	69968139	69968139	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:69968139G>A	uc001suy.2	+	10	1441	c.931G>A	c.(931-933)GGG>AGG	p.G311R	FRS2_uc001suz.2_Missense_Mutation_p.G311R|FRS2_uc009zrj.2_Missense_Mutation_p.G311R|FRS2_uc009zrk.2_Missense_Mutation_p.G311R	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	311					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAATATAAATGGGCTATCTAT	0.458		NaN											0	0	0	0.007291	0	28	48				
C12orf12	196477	broad.mit.edu	37	12	91347544	91347544	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:91347544C>T	uc001tbj.2	-	1	1410	c.976G>A	c.(976-978)GAA>AAA	p.E326K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	326	Potential.|Glu-rich.									central_nervous_system(1)|pancreas(1)	2						tccacatattcagcctcttcg	0.164		NaN											0	0	0	0.008291	0	10	23				
CHST11	50515	broad.mit.edu	37	12	105151459	105151459	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:105151459G>A	uc001tkx.1	+	4	1228	c.937G>A	c.(937-939)GAA>AAA	p.E313K	CHST11_uc001tky.2_Missense_Mutation_p.E308K|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	313	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						AACTACTGATGAAATGACCAC	0.463		NaN											0	0	0	0.001855	0	12	30				
FOXN4	121643	broad.mit.edu	37	12	109719382	109719382	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:109719382G>C	uc001toe.3	-	9	1229	c.1124C>G	c.(1123-1125)TCT>TGT	p.S375C	FOXN4_uc009zvg.2_Missense_Mutation_p.S172C|FOXN4_uc001tof.3_Missense_Mutation_p.S195C	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	375					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						TGGTGCTGGAGAGTCTGGAGC	0.682		NaN											0	0	0	0.008291	0	10	22				
UBE3B	89910	broad.mit.edu	37	12	109940905	109940905	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:109940905T>A	uc001top.2	+	14	1963	c.1360T>A	c.(1360-1362)TCT>ACT	p.S454T	UBE3B_uc001toq.2_Missense_Mutation_p.S454T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S454T	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	454					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						ACGGGTCGACTCTGCAGAAGT	0.512		NaN											0	0	0	0.008871	0	19	87				
BRAP	8315	broad.mit.edu	37	12	112087755	112087755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:112087755G>A	uc001tsn.3	-	11	1597	c.1403C>T	c.(1402-1404)TCT>TTT	p.S468F	BRAP_uc010syh.1_Missense_Mutation_p.S289F|BRAP_uc009zvv.2_Missense_Mutation_p.S438F	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	468	Potential.				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TCTTTCCACAGACTGCTTTTC	0.338		NaN											0	0	0	0.009096	0	3	38				
SRRM4	84530	broad.mit.edu	37	12	119583320	119583320	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:119583320C>T	uc001txa.1	+	9	1198	c.906C>T	c.(904-906)GCC>GCT	p.A302A		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	302	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CCAGCTCAGCCAGGTCTCGGG	0.622		NaN											0	0	0	0.001168	0	3	17				
COQ5	84274	broad.mit.edu	37	12	120947870	120947870	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:120947870C>G	uc001tyn.2	-	4	651	c.631G>C	c.(631-633)GAT>CAT	p.D211H	COQ5_uc001tyo.2_Missense_Mutation_p.D130H|COQ5_uc010szj.1_Missense_Mutation_p.D137H	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	211					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAAATATCAAACTTGTCA	0.448		NaN											0	0	0	0.01441	0	38	59				
P2RX7	5027	broad.mit.edu	37	12	121615184	121615184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:121615184C>T	uc001tzm.2	+	11	1219	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	P2RX7_uc001tzn.2_Nonsense_Mutation_p.Q285*|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Nonsense_Mutation_p.Q86*|P2RX7_uc001tzq.2_Nonsense_Mutation_p.Q205*	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	375						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGTGCTGTCAGCCCTGTGT	0.532		NaN											0	0	0	0.00245	0	13	58				
KDM2B	84678	broad.mit.edu	37	12	121878735	121878735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:121878735G>A	uc001uat.2	-	21	3598	c.3494C>T	c.(3493-3495)TCG>TTG	p.S1165L	KDM2B_uc001uaq.2_Missense_Mutation_p.S605L|KDM2B_uc010szy.1_Missense_Mutation_p.S605L|KDM2B_uc001uar.2_Missense_Mutation_p.S756L|KDM2B_uc001uas.2_Missense_Mutation_p.S1096L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.S413L|KDM2B_uc010szx.1_Missense_Mutation_p.S413L|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1165	LRR 3.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GCAAAGGGCCGAGACCGCGAT	0.637		NaN											0	0	0	0.00623	0	28	87				
RSRC2	65117	broad.mit.edu	37	12	122991412	122991412	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:122991412T>C	uc001ucr.2	-	9	1240	c.1094A>G	c.(1093-1095)AAT>AGT	p.N365S	RSRC2_uc001uco.2_Missense_Mutation_p.N134S|RSRC2_uc001ucp.2_Missense_Mutation_p.N306S|RSRC2_uc001ucq.2_Missense_Mutation_p.N133S|RSRC2_uc001ucs.2_Missense_Mutation_p.N134S|RSRC2_uc001uct.2_Missense_Mutation_p.N317S|RSRC2_uc001ucu.2_Missense_Mutation_p.N366S	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	365										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AAATTTGACATTTTGGTCCTT	0.289		NaN											0	0	0	0.006999	0	34	51				
ABCB9	23457	broad.mit.edu	37	12	123434347	123434347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:123434347C>T	uc001udm.3	-	4	1145	c.835G>A	c.(835-837)GAG>AAG	p.E279K	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.E279K|ABCB9_uc010taj.1_Missense_Mutation_p.E279K|ABCB9_uc001udp.2_Missense_Mutation_p.E279K|ABCB9_uc001udq.2_Missense_Mutation_p.E61K|ABCB9_uc001udr.2_Missense_Mutation_p.E279K	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	279	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GTGCGGTTCTCATCAAAGAAG	0.572		NaN											0	0	0	0.005443	0	23	74				
DNAH10	196385	broad.mit.edu	37	12	124330151	124330151	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:124330151G>A	uc001uft.3	+	30	5036	c.5011G>A	c.(5011-5013)GAC>AAC	p.D1671N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCAGAGTCGACTGGATGCT	0.532		NaN											0	0	0	0.013726	0	25	32				
DNAH10	196385	broad.mit.edu	37	12	124345611	124345611	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:124345611A>G	uc001uft.3	+	38	6473	c.6448A>G	c.(6448-6450)ATA>GTA	p.I2150V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2150	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGTGAGTGTCATAGAACTCTA	0.483		NaN											0	0	0	0.010818	0	27	32				
TMEM132B	114795	broad.mit.edu	37	12	125834468	125834468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:125834468C>T	uc001uhe.1	+	2	531	c.523C>T	c.(523-525)CGG>TGG	p.R175W		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCAGCTGTCGGCTGCAAGG	0.612		NaN											0	0	0	0.009718	0	35	49				
GOLGA3	2802	broad.mit.edu	37	12	133384936	133384936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:133384936G>C	uc001ukz.1	-	5	1278	c.719C>G	c.(718-720)TCA>TGA	p.S240*	GOLGA3_uc001ula.1_Nonsense_Mutation_p.S240*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.S240*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	240	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GATTTTGCTTGATTTGGAAGT	0.532		NaN											0	0	0	0.01441	0	89	126				
EFHA1	221154	broad.mit.edu	37	13	22178097	22178097	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:22178097C>G	uc001uof.2	-	1	213	c.191G>C	c.(190-192)AGT>ACT	p.S64T		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	64							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		GACTGTAAAACTGCCATCCCG	0.672		NaN											0	0	0	0.00632	0	18	98				
MIPEP	4285	broad.mit.edu	37	13	24449002	24449002	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:24449002G>A	uc001uox.3	-	5	686	c.586C>T	c.(586-588)CAT>TAT	p.H196Y		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	196					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTGTCTAGATGGATTCCACTA	0.323		NaN											0	0	0	0.010818	0	27	109				
POLR1D	51082	broad.mit.edu	37	13	28197305	28197305	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:28197305G>A	uc010tdm.1	+	3	1350	c.320G>A	c.(319-321)TGC>TAC	p.C107Y	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.C107Y|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	107					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		ATGAATGTCTGCCAACATGTG	0.423		NaN											0	0	0	0.011902	0	37	95				
KL	9365	broad.mit.edu	37	13	33638310	33638310	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:33638310G>A	uc001uus.2	+	5	3034	c.3026G>A	c.(3025-3027)AGA>AAA	p.R1009K		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	1009	Cytoplasmic (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAAGGCAGAAGAAGTTACAAA	0.323		NaN											0	0	0	0.010729	0	10	25				
RFXAP	5994	broad.mit.edu	37	13	37394043	37394043	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:37394043G>A	uc001uvu.1	+	1	705	c.549G>A	c.(547-549)CTG>CTA	p.L183L		NM_000538	NP_000529	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ACCAGGCCCTGAACTGCGGTG	0.557		NaN											0	0	0	0.012319	0	18	18				
NHLRC3	387921	broad.mit.edu	37	13	39621833	39621833	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:39621833T>C	uc001uxc.2	+	7	1136	c.814T>C	c.(814-816)TTG>CTG	p.L272L	NHLRC3_uc001uxd.2_Silent_p.L205L|NHLRC3_uc001uxe.2_Silent_p.L75L	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	272						extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TGGGAAGTACTTGATTGTGGC	0.423		NaN											0	0	0	0.004656	0	23	16				
AKAP11	11215	broad.mit.edu	37	13	42876628	42876628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:42876628C>T	uc001uys.1	+	8	3921	c.3746C>T	c.(3745-3747)TCA>TTA	p.S1249L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1249					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAAACCCCTCAGACGAAAAT	0.363		NaN											0	0	0	0.013726	0	28	32				
AKAP11	11215	broad.mit.edu	37	13	42877371	42877371	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:42877371G>A	uc001uys.1	+	8	4664	c.4489G>A	c.(4489-4491)GAA>AAA	p.E1497K		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1497					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGGATATGAAGAAGATAATGA	0.398		NaN											0	0	0	0.01441	0	42	40				
PCDH8	5100	broad.mit.edu	37	13	53418738	53418738	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:53418738C>A	uc001vhi.2	-	3	3373	c.3170G>T	c.(3169-3171)GGC>GTC	p.G1057V	PCDH8_uc001vhj.2_Missense_Mutation_p.G960V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1057	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGTACCTGCCAGGAGGGGA	0.547		NaN											1	0	3.09479e-21	0.006999	3.32818e-21	38	39				
MYCBP2	23077	broad.mit.edu	37	13	77743847	77743847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:77743847C>T	uc001vkf.2	-	40	5774	c.5683G>A	c.(5683-5685)GAT>AAT	p.D1895N	MYCBP2_uc010aev.2_Missense_Mutation_p.D1299N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAATGTCATCAGCTAAAAAA	0.398		NaN											0	0	0	0.007413	0	20	34				
RBM26	64062	broad.mit.edu	37	13	79943007	79943007	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:79943007C>G	uc001vkz.2	-	6	767	c.753G>C	c.(751-753)TTG>TTC	p.L251F	RBM26_uc001vky.2_Missense_Mutation_p.L251F|RBM26_uc001vla.2_Missense_Mutation_p.L251F|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	251					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TAGTGCTGCTCAAAGTAGGTA	0.398		NaN											0	0	0	0.009096	0	3	131				
NALCN	259232	broad.mit.edu	37	13	102029158	102029158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:102029158C>T	uc001vox.1	-	6	726	c.537G>A	c.(535-537)TGG>TGA	p.W179*	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Nonsense_Mutation_p.W179*|NALCN_uc001vpa.2_Nonsense_Mutation_p.W179*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	179	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGAAACACTCCATATTTGTT	0.308		NaN											0	0	0	0.014323	0	19	105				
TPP2	7174	broad.mit.edu	37	13	103279421	103279421	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:103279421C>A	uc001vpi.3	+	7	947	c.844C>A	c.(844-846)CGG>AGG	p.R282R		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	282					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAACCTGAACGGAATGGGGT	0.463		NaN											1	0	5.8336e-16	0.003271	6.21728e-16	31	92				
ATP11A	23250	broad.mit.edu	37	13	113532536	113532536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:113532536G>C	uc001vsi.3	+	29	3421	c.3333G>C	c.(3331-3333)AAG>AAC	p.K1111N	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1111	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTAAGACTAAGAGCCAGTGCC	0.527		NaN											0	0	0	0.012213	0	30	66				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	0.004672	0	3	19				
RPGRIP1	57096	broad.mit.edu	37	14	21792872	21792872	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:21792872C>G	uc001wag.2	+	14	1858	c.1858C>G	c.(1858-1860)CTG>GTG	p.L620V	RPGRIP1_uc001wah.2_Missense_Mutation_p.L262V|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.L85V|RPGRIP1_uc001wak.2_Missense_Mutation_p.L95V|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Silent_p.L28L|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	620					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGATATTTCTCTGCTGCATCA	0.493		NaN											0	0	0	0.012319	0	17	85				
JUB	84962	broad.mit.edu	37	14	23444283	23444283	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:23444283G>T	uc001whz.2	-	5	1646	c.1270C>A	c.(1270-1272)CCA>ACA	p.P424T	JUB_uc001why.2_Missense_Mutation_p.P7T	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	424	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		AAACAGCCTGGATGATAGGAC	0.517		NaN											1	0	1.06801e-11	0.009535	1.1248e-11	29	103				
CEBPE	1053	broad.mit.edu	37	14	23588121	23588121	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:23588121C>T	uc001wiv.1	-	1	354	c.180G>A	c.(178-180)GTG>GTA	p.V60V		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCGCTGGCTTCACGGCAAAGA	0.632		NaN											0	0	0	0.004289	0	33	62				
CTSG	1511	broad.mit.edu	37	14	25044606	25044606	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:25044606C>G	uc001wpq.2	-	2	105	c.68G>C	c.(67-69)GGA>GCA	p.G23A		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	23	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CTCCCGGCCTCCGATGATCTC	0.567		NaN											0	0	0	0.01441	0	108	128				
AP4S1	11154	broad.mit.edu	37	14	31535513	31535513	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:31535513G>A	uc001wqy.3	+	2	493	c.111G>A	c.(109-111)AAG>AAA	p.K37K	AP4S1_uc001wqw.3_Silent_p.K37K|AP4S1_uc001wqx.3_Silent_p.K37K|AP4S1_uc010amh.2_Silent_p.K37K|AP4S1_uc001wqz.3_RNA	NM_001128126	NP_001121598	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1	37						coated pit|Golgi apparatus	protein transporter activity				0	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		AAGTCATAAAGAGCTGTCTCT	0.393		NaN											0	0	0	0.00278	0	20	72				
PPP2R3C	55012	broad.mit.edu	37	14	35557192	35557192	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:35557192G>A	uc001wss.2	-	12	1492	c.1138C>T	c.(1138-1140)CAT>TAT	p.H380Y	PPP2R3C_uc001wst.2_Missense_Mutation_p.H264Y|PPP2R3C_uc010tpr.1_Missense_Mutation_p.H264Y|PPP2R3C_uc001wsu.2_RNA	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	380						centrosome|nucleus	calcium ion binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCTTGTCCATGGATTTTCATT	0.308		NaN											0	0	0	0.004007	0	13	24				
GMFB	2764	broad.mit.edu	37	14	54948149	54948149	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:54948149C>T	uc010tqz.1	-	4	277	c.178G>A	c.(178-180)GAA>AAA	p.E60K	GMFB_uc001xaw.1_RNA	NM_004124	NP_004115	P60983	GMFB_HUMAN	glia maturation factor, beta	60	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0						TCAGGTAGTTCATCTTTAAGT	0.378		NaN											0	0	0	0.004482	0	6	42				
KIAA0831	22863	broad.mit.edu	37	14	55852662	55852662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:55852662C>A	uc001xbx.1	-	5	598	c.562G>T	c.(562-564)GAG>TAG	p.E188*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.E75*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	188					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						GCCAGACGCTCATAATGACTT	0.423		NaN											1	0	0.000442599	0.006214	0.000450819	7	39				
AKAP5	9495	broad.mit.edu	37	14	64936344	64936344	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:64936344T>G	uc001xhd.3	+	2	1610	c.1232T>G	c.(1231-1233)CTG>CGG	p.L411R	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	411					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATAGAACAGCTGGTTAATGAA	0.348		NaN											0	0	0	0.014323	0	19	84				
ARG2	384	broad.mit.edu	37	14	68086727	68086727	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:68086727C>T	uc001xjs.2	+	1	149	c.33C>T	c.(31-33)CTC>CTT	p.L11L		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	11					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CGCGTCTCCTCCAGACGCGAG	0.617		NaN											0	0	0	0.004672	0	3	17				
PNMA1	9240	broad.mit.edu	37	14	74179620	74179620	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:74179620C>T	uc001xor.1	-	1	1509	c.723G>A	c.(721-723)GAG>GAA	p.E241E		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccctagagctctcaacgctcc	0		NaN											0	0	0	0.004878	0	33	99				
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:89044479A>T	uc001xww.2	+	9	1499	c.1274A>T	c.(1273-1275)AAT>ATT	p.N425I	ZC3H14_uc010twd.1_Missense_Mutation_p.N425I|ZC3H14_uc010twe.1_Missense_Mutation_p.N425I|ZC3H14_uc001xwx.2_Missense_Mutation_p.N425I|ZC3H14_uc010twf.1_Missense_Mutation_p.N270I|ZC3H14_uc001xwy.2_Missense_Mutation_p.N391I|ZC3H14_uc010twg.1_Missense_Mutation_p.N270I|ZC3H14_uc001xxa.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	425						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						GTAGAAAAAAATCAAGGTAAT	0.343		NaN											0	0	0	0.010729	0	9	44				
SLC24A4	123041	broad.mit.edu	37	14	92922835	92922835	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:92922835C>A	uc001yak.2	+	12	1111	c.1087C>A	c.(1087-1089)CCT>ACT	p.P363T	SLC24A4_uc001yai.2_Missense_Mutation_p.P316T|SLC24A4_uc010twm.1_Missense_Mutation_p.P361T|SLC24A4_uc001yaj.2_Missense_Mutation_p.P344T|SLC24A4_uc010auj.2_Missense_Mutation_p.P252T|SLC24A4_uc010twn.1_Missense_Mutation_p.P136T|SLC24A4_uc001yan.2_Missense_Mutation_p.P74T	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	380	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGGGAATGTTCCTGTGGAAAA	0.597		NaN									OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	6.33695e-27	0.007835	6.86663e-27	38	51				
HSP90AA1	3320	broad.mit.edu	37	14	102551654	102551654	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:102551654C>G	uc001yku.3	-	4	834	c.644G>C	c.(643-645)GGA>GCA	p.G215A	HSP90AA1_uc001ykv.3_Missense_Mutation_p.G337A|HSP90AA1_uc001ykw.1_Missense_Mutation_p.G36A|HSP90AA1_uc001ykx.1_Missense_Mutation_p.G204A	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	215					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	AATGGGATATCCAATAAACTG	0.378		NaN											0	0	0	0.009096	0	4	32				
OCA2	4948	broad.mit.edu	37	15	28326981	28326981	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:28326981C>T	uc001zbh.3	-	2	150	c.40G>A	c.(40-42)GCG>ACG	p.A14T	OCA2_uc010ayv.2_Missense_Mutation_p.A14T	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	14	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACCGCCGGCGCGCCGGGGTAC	0.657		NaN							Oculocutaneous_Albinism				0	0	0	0.00245	0	12	30				
RYR3	6263	broad.mit.edu	37	15	33916209	33916209	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:33916209C>T	uc001zhi.2	+	20	2629	c.2559C>T	c.(2557-2559)CCC>CCT	p.P853P	RYR3_uc010bar.2_Silent_p.P853P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	853	4 X approximate repeats.|1.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCCATGCCCCGTAGACACCA	0.438		NaN											0	0	0	0.01441	0	76	129				
BUB1B	701	broad.mit.edu	37	15	40512774	40512774	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40512774T>C	uc001zkx.3	+	23	3179	c.2967T>C	c.(2965-2967)GAT>GAC	p.D989D	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	989	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGCTAAAAGATGGTGAATTGT	0.358		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.004007	0	16	58				
PLCB2	5330	broad.mit.edu	37	15	40594208	40594208	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40594208G>A	uc001zld.2	-	7	833	c.532C>T	c.(532-534)CGC>TGC	p.R178C	PLCB2_uc010bbo.2_Missense_Mutation_p.R178C|PLCB2_uc010ucm.1_Missense_Mutation_p.R178C|PLCB2_uc001zle.3_Missense_Mutation_p.R178C	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	178					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCCGCTTGCGGTCAGCAGGA	0.582		NaN											0	0	0	0.004672	0	3	61				
C15orf52	388115	broad.mit.edu	37	15	40627522	40627522	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40627522C>T	uc001zlh.3	-	11	1458	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	C15orf52_uc010ucn.1_Missense_Mutation_p.G271E	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	481										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGCCCTGCTCCTCTCTGTGG	0.657		NaN											0	0	0	0.003954	0	23	108				
EHD4	30844	broad.mit.edu	37	15	42202032	42202032	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:42202032C>T	uc001zot.2	-	5	1017	c.954G>A	c.(952-954)AAG>AAA	p.K318K		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	318					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCATCTCCTTCTTCAGGTAGC	0.438		NaN											0	0	0	0.010504	0	17	54				
LRRC57	255252	broad.mit.edu	37	15	42840409	42840409	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:42840409G>A	uc001zqd.1	-	2	486	c.118C>T	c.(118-120)CTC>TTC	p.L40F	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.L40F	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	40	LRR 1.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		ATGGTCCTGAGATTGCTCGTC	0.552		NaN											0	0	0	0.007835	0	34	137				
MAP1A	4130	broad.mit.edu	37	15	43816763	43816763	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:43816763G>T	uc001zrt.2	+	4	3559	c.3092G>T	c.(3091-3093)GGA>GTA	p.G1031V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1031						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACTCCTGGGGAGACACTAAG	0.562		NaN											1	0	4.67007e-22	0.00874	5.03745e-22	41	50				
COPS2	9318	broad.mit.edu	37	15	49431772	49431772	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:49431772C>G	uc001zxf.2	-	4	404	c.325G>C	c.(325-327)GAA>CAA	p.E109Q	COPS2_uc001zxh.2_Missense_Mutation_p.E109Q|COPS2_uc010ufa.1_Missense_Mutation_p.E45Q	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	109					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATGGATTTTTCAGAATAATTT	0.313		NaN											0	0	0	0.003271	0	31	34				
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:51791720C>T	uc002abf.2	-	18	3926	c.3701G>A	c.(3700-3702)AGA>AAA	p.R1234K	DMXL2_uc010ufy.1_Missense_Mutation_p.R1234K|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428		NaN											0	0	0	0.012213	0	30	53				
WDR72	256764	broad.mit.edu	37	15	54003547	54003547	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:54003547A>G	uc002acj.2	-	8	885	c.843T>C	c.(841-843)TAT>TAC	p.Y281Y	WDR72_uc010bfi.1_Silent_p.Y281Y	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	281										lung(1)|skin(1)	2				all cancers(107;0.0511)		TCAGCAGCTGATAGATGTAAC	0.448		NaN											0	0	0	0.004289	0	34	58				
PIGB	9488	broad.mit.edu	37	15	55611498	55611498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:55611498C>T	uc002act.2	+	1	366	c.50C>T	c.(49-51)GCC>GTC	p.A17V	uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	17					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GGCGGAGATGCCAGCCTCACT	0.592		NaN											0	0	0	0.004672	0	3	20				
LIPC	3990	broad.mit.edu	37	15	58855765	58855765	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:58855765G>C	uc010bga.1	+	10	1839	c.1231G>C	c.(1231-1233)GGC>CGC	p.G411R	LIPC_uc010bfz.1_Missense_Mutation_p.G411R|LIPC_uc002afa.1_Missense_Mutation_p.G411R|LIPC_uc010bgb.1_Missense_Mutation_p.G309R|LIPC_uc010ugy.1_Missense_Mutation_p.G350R	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	411	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGTGGATATCGGCGAGCTGAT	0.468		NaN											0	0	0	0.004289	0	31	139				
HERC1	8925	broad.mit.edu	37	15	63908715	63908715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:63908715C>T	uc002amp.2	-	75	14003	c.13855G>A	c.(13855-13857)GAG>AAG	p.E4619K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4619	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCACCTCCTCCAGGTCCTCT	0.542		NaN											0	0	0	0.00278	0	25	51				
HERC1	8925	broad.mit.edu	37	15	63948074	63948074	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:63948074G>A	uc002amp.2	-	50	10099	c.9951C>T	c.(9949-9951)CTC>CTT	p.L3317L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3317					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CAATTCCTCGGAGAAAGCTGG	0.443		NaN											0	0	0	0.00245	0	11	8				
HERC1	8925	broad.mit.edu	37	15	64010869	64010869	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64010869T>C	uc002amp.2	-	21	4030	c.3882A>G	c.(3880-3882)TCA>TCG	p.S1294S	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1294					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGTACACTTCTGATAAGTGTT	0.358		NaN											0	0	0	0.004672	0	3	8				
HERC1	8925	broad.mit.edu	37	15	64067652	64067652	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64067652G>C	uc002amp.2	-	2	319	c.171C>G	c.(169-171)CTC>CTG	p.L57L	HERC1_uc010uil.1_Silent_p.L57L|HERC1_uc010bgt.1_Silent_p.L57L|HERC1_uc002amq.1_Silent_p.L57L	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	57					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GTGGTCCTTTGAGGCATAAAA	0.443		NaN											0	0	0	0.012319	0	17	41				
PPIB	5479	broad.mit.edu	37	15	64455081	64455081	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64455081C>T	uc002and.2	-	1	274	c.105G>A	c.(103-105)GAG>GAA	p.E35E	PPIB_uc010bgx.1_Silent_p.E27E	NM_000942	NP_000933	P23284	PPIB_HUMAN	peptidylprolyl isomerase B precursor	35					protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding				0					L-Proline(DB00172)	CCTTCTTCTTCTCATCGGCCG	0.667		NaN											0	0	0	0.006214	0	8	23				
C15orf44	81556	broad.mit.edu	37	15	65871971	65871971	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:65871971A>C	uc002apd.2	-	12	1668	c.1332T>G	c.(1330-1332)GCT>GCG	p.A444A	C15orf44_uc010uix.1_Silent_p.A480A|C15orf44_uc010uiz.1_Silent_p.A408A|C15orf44_uc010uja.1_Silent_p.A394A|C15orf44_uc010ujb.1_Silent_p.A365A|C15orf44_uc002ape.3_Silent_p.A444A|C15orf44_uc010uiy.1_Silent_p.A365A	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	444										ovary(1)	1						CAAAGGCTAGAGCGGCCTTTC	0.507		NaN											0	0	0	0.00499	0	15	53				
GLCE	26035	broad.mit.edu	37	15	69561007	69561007	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69561007G>C	uc002ary.1	+	5	1506	c.1278G>C	c.(1276-1278)GTG>GTC	p.V426V		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	426	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						CAATTATGGTGACCCGTAAGT	0.488		NaN											0	0	0	0.012213	0	29	48				
GLCE	26035	broad.mit.edu	37	15	69561321	69561321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69561321G>A	uc002ary.1	+	5	1820	c.1592G>A	c.(1591-1593)GGA>GAA	p.G531E		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	531	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						GAAAAACTCGGAAAAGAAGCA	0.428		NaN											0	0	0	0.00333	0	19	44				
KIF23	9493	broad.mit.edu	37	15	69737226	69737226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69737226C>T	uc002asb.2	+	19	2594	c.2477C>T	c.(2476-2478)TCT>TTT	p.S826F	KIF23_uc002asc.2_Missense_Mutation_p.S722F|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.S539F	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	826					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						AAGCCCGCCTCTAACATGCAA	0.478		NaN											0	0	0	0.01441	0	56	78				
ARID3B	10620	broad.mit.edu	37	15	74836792	74836792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:74836792G>C	uc002aye.2	+	2	716	c.515G>C	c.(514-516)GGA>GCA	p.G172A	ARID3B_uc002ayc.2_Missense_Mutation_p.G172A|ARID3B_uc002ayd.2_Missense_Mutation_p.G172A	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TCCACAGCAGGACAGCCGAAC	0.512		NaN											0	0	0	0.008361	0	25	37				
CYP1A2	1544	broad.mit.edu	37	15	75043585	75043585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:75043585G>C	uc002ayr.1	+	3	951	c.887G>C	c.(886-888)AGA>ACA	p.R296T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	296					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AAGGGGCCTAGAGCCAGCGGC	0.557		NaN											0	0	0	0.009718	0	40	61				
RCN2	5955	broad.mit.edu	37	15	77241555	77241555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:77241555G>A	uc002bcd.2	+	7	1167	c.946G>A	c.(946-948)GAG>AAG	p.E316K	RCN2_uc002bce.2_Missense_Mutation_p.E388K|RCN2_uc010bks.2_Missense_Mutation_p.E269K	NM_002902	NP_002893	Q14257	RCN2_HUMAN	reticulocalbin 2 precursor	316	Prevents secretion from ER (Potential).					endoplasmic reticulum lumen	calcium ion binding				0						CTATCATGATGAGCTTTAATC	0.388		NaN											0	0	0	0.003163	0	13	65				
ARNT2	9915	broad.mit.edu	37	15	80767365	80767365	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:80767365C>G	uc002bfr.2	+	5	589	c.423C>G	c.(421-423)CTC>CTG	p.L141L	ARNT2_uc002bfq.2_Silent_p.L141L|ARNT2_uc010unm.1_Silent_p.L130L|ARNT2_uc002bfs.2_Silent_p.L130L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	141	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGAAGCATCTCATCCTTGAAG	0.453		NaN											0	0	0	0.001984	0	6	382				
FAM108C1	58489	broad.mit.edu	37	15	80988240	80988240	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:80988240C>T	uc002bfu.2	+	1	589	c.470C>T	c.(469-471)TCC>TTC	p.S157F	FAM108C1_uc002bft.2_Missense_Mutation_p.S150F	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	157							hydrolase activity				0						GGCCTCGGCTCCCGCATCAAC	0.637		NaN											0	0	0	0.000602	0	4	16				
STARD5	80765	broad.mit.edu	37	15	81605709	81605709	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:81605709T>C	uc002bgm.2	-	6	614	c.530A>G	c.(529-531)CAT>CGT	p.H177R	STARD5_uc002bgn.2_Missense_Mutation_p.H70R	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	177	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1						GAGGTCGGTATGGAAGAATGT	0.562		NaN											0	0	0	0.01441	0	58	86				
ALPK3	57538	broad.mit.edu	37	15	85407673	85407673	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:85407673G>A	uc002ble.2	+	12	5273	c.5106G>A	c.(5104-5106)GAG>GAA	p.E1702E	ALPK3_uc010upc.1_Silent_p.R3R	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1702	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTATGTTTAGGATCATCCCAC	0.517		NaN											0	0	0	0.011902	0	41	66				
AKAP13	11214	broad.mit.edu	37	15	86122380	86122380	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:86122380G>A	uc002blv.1	+	7	1251	c.1081G>A	c.(1081-1083)GAG>AAG	p.E361K	AKAP13_uc002blt.1_Missense_Mutation_p.E361K|AKAP13_uc002blu.1_Missense_Mutation_p.E361K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	361					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAGCATAGTTGAGGAGGAGAA	0.493		NaN											0	0	0	0.008291	0	11	52				
MAN2A2	4122	broad.mit.edu	37	15	91450061	91450061	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:91450061G>A	uc010bnz.2	+	7	1042	c.927G>A	c.(925-927)ATG>ATA	p.M309I	MAN2A2_uc010boa.2_Missense_Mutation_p.M351I|MAN2A2_uc002bqc.2_Missense_Mutation_p.M309I|MAN2A2_uc010uql.1_Missense_Mutation_p.M13I|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	309	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCACCAGCATGCTGATTCAGA	0.597		NaN											0	0	0	0.00333	0	24	69				
SV2B	9899	broad.mit.edu	37	15	91810843	91810843	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:91810843T>C	uc002bqv.2	+	7	1569	c.1178T>C	c.(1177-1179)CTG>CCG	p.L393P	SV2B_uc002bqt.2_Missense_Mutation_p.L393P|SV2B_uc010uqv.1_Missense_Mutation_p.L242P|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	393	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACACTGATTCTGGCCGTGGTT	0.443		NaN											0	0	0	0.001168	0	4	28				
LINS1	55180	broad.mit.edu	37	15	101112154	101112154	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:101112154C>T	uc002bwe.2	-	7	1630	c.1339G>A	c.(1339-1341)GAT>AAT	p.D447N	LINS1_uc002bwd.2_Missense_Mutation_p.D34N|LINS1_uc002bwf.2_Missense_Mutation_p.D447N|LINS1_uc002bwg.2_Missense_Mutation_p.D447N|LINS1_uc002bwh.2_Missense_Mutation_p.D447N	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	447											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AGCATGTCATCGTCTTGTTCT	0.448		NaN											0	0	0	0.01441	0	39	48				
TELO2	9894	broad.mit.edu	37	16	1559872	1559872	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:1559872G>T	uc002cly.2	+	21	2740	c.2449G>T	c.(2449-2451)GCA>TCA	p.A817S		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	817						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				CAGGACGCTGGCACTGAGGGC	0.642		NaN											1	0	1.08611e-07	0.010729	1.12231e-07	9	28				
CREBBP	1387	broad.mit.edu	37	16	3786760	3786760	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:3786760A>G	uc002cvv.2	-	27	4655	c.4451T>C	c.(4450-4452)TTC>TCC	p.F1484S	CREBBP_uc002cvw.2_Missense_Mutation_p.F1446S	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1484	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGCAATGGAAGATGTAATC	0.507		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.01441	0	58	60		Valid		
NOD2	64127	broad.mit.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	C	T	rs144368009		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:50733855C>T	uc002egm.1	+	2	635	c.530C>T	c.(529-531)CCG>CTG	p.P177L	NOD2_uc010cbj.1_Missense_Mutation_p.P150L|NOD2_uc010cbk.1_Missense_Mutation_p.P150L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	177	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542		NaN											0	0	0	0.009096	0	4	71				
KATNB1	10300	broad.mit.edu	37	16	57787344	57787344	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:57787344G>A	uc002eml.1	+	12	1464	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	364	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CCCCAGCAGCGAGGATGACCG	0.662		NaN											0	0	0	0.013537	0	10	77				
PLEKHG4	25894	broad.mit.edu	37	16	67314065	67314065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:67314065C>T	uc002eso.3	+	1	2653	c.118C>T	c.(118-120)CAG>TAG	p.Q40*	PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002esr.1_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.Q40*	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	40					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACCTGCTTCCCAGATGCACGT	0.592		NaN											0	0	0	0.01441	0	55	50				
THAP11	57215	broad.mit.edu	37	16	67877394	67877394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:67877394G>T	uc002euo.2	+	1	1182	c.937G>T	c.(937-939)GGA>TGA	p.G313*	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CAAGAAGCACGGAATGTGAAC	0.612		NaN											1	0	6.53348e-20	0.003755	7.01562e-20	31	39				
CIRH1A	84916	broad.mit.edu	37	16	69202805	69202805	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:69202805C>T	uc002ews.3	+	17	2122	c.2026C>T	c.(2026-2028)CCA>TCA	p.P676S	CIRH1A_uc002ewt.3_Missense_Mutation_p.P593S|CIRH1A_uc010cfi.2_Missense_Mutation_p.P478S	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	676						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCTCAGCTCCCACCACCCAT	0.443		NaN											0	0	0	0.000602	0	4	141				
SNTB2	6645	broad.mit.edu	37	16	69279609	69279609	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:69279609G>A	uc002ewu.2	+	2	705	c.685G>A	c.(685-687)GAG>AAG	p.E229K		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	229	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TAGTGGCAGTGAGGACTCTGG	0.493		NaN											0	0	0	0.01441	0	189	214				
COG4	25839	broad.mit.edu	37	16	70531255	70531255	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:70531255C>T	uc002ezc.2	-	11	1361	c.1350G>A	c.(1348-1350)CTG>CTA	p.L450L	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L450L|COG4_uc002eze.2_Silent_p.L144L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	446					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TGCTGGATGTCAGCTGGCCCT	0.512		NaN											0	0	0	0.01441	0	91	114				
SF3B3	23450	broad.mit.edu	37	16	70602260	70602260	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:70602260C>A	uc002ezf.2	+	22	3238	c.3027C>A	c.(3025-3027)TTC>TTA	p.F1009L		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1009					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				AAGAAAGTTTCATCTGGGTTC	0.433		NaN											1	0	1.96642e-18	0.006999	2.10519e-18	40	51				
RFWD3	55159	broad.mit.edu	37	16	74678291	74678291	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:74678291A>C	uc002fda.2	-	6	1146	c.1048T>G	c.(1048-1050)TTG>GTG	p.L350V	RFWD3_uc010cgq.2_Missense_Mutation_p.L350V	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	350					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						CTAGTGTCCAAAGCTCTCAGG	0.453		NaN											0	0	0	0.01441	0	36	227				
CNTNAP4	85445	broad.mit.edu	37	16	76592577	76592577	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:76592577C>T	uc002feu.1	+	26	4309	c.3924C>T	c.(3922-3924)TTC>TTT	p.F1308F	CNTNAP4_uc002fev.1_Silent_p.F1172F|CNTNAP4_uc010chb.1_Silent_p.F1235F|CNTNAP4_uc002fex.1_Silent_p.F1311F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1308	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AGTACTTCTTCTGATTGGCAG	0.363		NaN											0	0	0	0.004482	0	9	13				
SLC38A8	146167	broad.mit.edu	37	16	84075602	84075602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:84075602C>T	uc002fhg.1	-	1	161	c.161G>A	c.(160-162)GGA>GAA	p.G54E		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	54					amino acid transport|sodium ion transport	integral to membrane					0						AGGGACCACTCCGCCCGCTTT	0.637		NaN											0	0	0	0.00333	0	18	174				
LRRC50	123872	broad.mit.edu	37	16	84211366	84211366	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:84211366G>C	uc002fhl.3	+	12	2278	c.2097G>C	c.(2095-2097)GAG>GAC	p.E699D	LRRC50_uc010vnw.1_Missense_Mutation_p.E463D	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	699					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CACCCCCAGAGACGTGTGTCG	0.592		NaN							Kartagener_syndrome				0	0	0	0.01441	0	57	257				
RNMTL1	55178	broad.mit.edu	37	17	691281	691281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:691281G>C	uc002frw.2	+	3	742	c.636G>C	c.(634-636)TTG>TTC	p.L212F		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	212					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CTTTATTATTGATTTGTGACA	0.463		NaN											0	0	0	0.01441	0	62	140				
SLC25A11	8402	broad.mit.edu	37	17	4841188	4841188	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:4841188C>T	uc002fzo.1	-	8	906	c.793G>A	c.(793-795)GTG>ATG	p.V265M	SLC25A11_uc002fzp.1_Missense_Mutation_p.V261M|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	265	Solcar 3.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						TTGAACAGCACGTCCTAGACA	0.627		NaN											0	0	0	0.010818	0	28	69				
DHX33	56919	broad.mit.edu	37	17	5352201	5352201	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:5352201C>A	uc002gca.2	-	11	1745	c.1743G>T	c.(1741-1743)GAG>GAT	p.E581D	DHX33_uc002gbz.2_Missense_Mutation_p.E352D|DHX33_uc002gcb.2_Missense_Mutation_p.E408D|DHX33_uc010clf.2_Missense_Mutation_p.E357D	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	581						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						TGACAAAATTCTCTTTGCACC	0.368		NaN											1	0	8.28177e-16	0.007413	8.81329e-16	15	28				
XAF1	54739	broad.mit.edu	37	17	6659401	6659401	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:6659401G>A	uc002gdn.2	+	1	246	c.4G>A	c.(4-6)GAA>AAA	p.E2K	XAF1_uc010clr.1_Missense_Mutation_p.E2K|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Missense_Mutation_p.E2K|XAF1_uc002gdp.2_5'UTR|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_5'UTR	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	2					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						GCAGAACATGGAAGGAGACTT	0.537		NaN											0	0	0	0.01441	0	86	43				
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:7577108C>A	uc002gim.2	-	8	1024	c.830G>T	c.(829-831)TGT>TTT	p.C277F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	277	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCCCAGGACAGGCACAAAC	0.547		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	4.96729e-08	0.008871	5.14779e-08	21	23		Valid		
ALOXE3	59344	broad.mit.edu	37	17	8018935	8018935	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:8018935C>G	uc010cnr.2	-	4	794	c.424G>C	c.(424-426)GAA>CAA	p.E142Q	ALOXE3_uc002gka.2_Missense_Mutation_p.E298Q|ALOXE3_uc010vuo.1_Missense_Mutation_p.E274Q|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	142	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						CGGTAGCATTCTTGTCGGGCC	0.478		NaN											0	0	0	0.004878	0	31	58				
STX8	9482	broad.mit.edu	37	17	9153949	9153949	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:9153949C>T	uc002glx.2	-	8	807	c.657G>A	c.(655-657)GTG>GTA	p.V219V		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	219	Helical; Anchor for type IV membrane protein; (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						GCAGTAAAATCACCATGATCA	0.463		NaN											0	0	0	0.006214	0	7	14				
ELAC2	60528	broad.mit.edu	37	17	12897026	12897026	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:12897026C>T	uc002gnz.3	-	23	2326	c.2231G>A	c.(2230-2232)GGA>GAA	p.G744E	ELAC2_uc002gnu.3_Missense_Mutation_p.G141E|ELAC2_uc002gnv.3_Missense_Mutation_p.G372E|ELAC2_uc002gnw.3_Missense_Mutation_p.G400E|ELAC2_uc002gnx.3_Missense_Mutation_p.G504E|ELAC2_uc010vvo.1_Missense_Mutation_p.G542E|ELAC2_uc010vvp.1_Missense_Mutation_p.G725E|ELAC2_uc010vvq.1_Missense_Mutation_p.G743E|ELAC2_uc010vvr.1_Missense_Mutation_p.G704E	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	744					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						AAAGGCAACTCCCACTTTCTC	0.577		NaN							Hereditary_Prostate_Cancer				0	0	0	0.00499	0	15	113				
TRIM16	10626	broad.mit.edu	37	17	15532492	15532492	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:15532492C>T	uc002gox.2	-	9	1689	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N	TRIM16_uc002gor.1_Missense_Mutation_p.D378N|TRIM16_uc002gow.2_Missense_Mutation_p.D162N|TRIM16_uc002goy.2_Missense_Mutation_p.D248N	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	378	B30.2/SPRY.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTGTCCGGGTCAAACGTGATG	0.567		NaN											0	0	0	0.01441	0	43	75				
NCOR1	9611	broad.mit.edu	37	17	15942889	15942889	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:15942889G>A	uc002gpo.2	-	44	7053	c.6813C>T	c.(6811-6813)CTC>CTT	p.L2271L	NCOR1_uc002gpn.2_Silent_p.L2168L|NCOR1_uc002gpl.2_Silent_p.L286L|NCOR1_uc002gpm.2_Silent_p.L791L|NCOR1_uc010vwb.1_Silent_p.L855L|NCOR1_uc010coy.2_Silent_p.L1179L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2271	Interaction with C1D (By similarity).|ID2 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTCCCATGAGAGCCTTCC	0.473		NaN											0	0	0	0.013537	0	11	31				
RAI1	10743	broad.mit.edu	37	17	17696270	17696270	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:17696270C>G	uc002grm.2	+	3	477	c.8C>G	c.(7-9)TCT>TGT	p.S3C	RAI1_uc002grn.1_Missense_Mutation_p.S3C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	3						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GTCATGCAGTCTTTTCGAGAA	0.378		NaN											0	0	0	0.012319	0	21	33				
SMCR7	125170	broad.mit.edu	37	17	18167285	18167285	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:18167285C>T	uc002gst.2	+	4	783	c.572C>T	c.(571-573)GCG>GTG	p.A191V	SMCR7_uc002gsu.2_Silent_p.C166C|SMCR7_uc010vxq.1_Missense_Mutation_p.A202V	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	191						integral to membrane	protein binding				0	all_neural(463;0.228)					GCGGGGGCTGCGGACCATGTG	0.701		NaN											0	0	0	0.006214	0	8	17				
ZNF286B	729288	broad.mit.edu	37	17	18565289	18565289	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:18565289G>A	uc010vyd.1	-	5	1781	c.1530C>T	c.(1528-1530)CTC>CTT	p.L510L		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	zinc finger protein 286B	510	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GATGTCTGATGAGAGATGAAC	0.358		NaN											0	0	0	0.00333	0	16	46				
ALDH3A1	218	broad.mit.edu	37	17	19648427	19648427	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:19648427C>T	uc010cqu.2	-	1	346	c.16G>A	c.(16-18)GAG>AAG	p.E6K	ALDH3A1_uc010vzd.1_Missense_Mutation_p.E6K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E6K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E6K|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	6					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TTCACGGCCTCGCTGATCTTG	0.682		NaN											0	0	0	0.00278	0	18	38				
AKAP10	11216	broad.mit.edu	37	17	19861683	19861683	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:19861683A>T	uc002gwo.2	-	4	658	c.521T>A	c.(520-522)CTA>CAA	p.L174Q	AKAP10_uc002gwp.1_Missense_Mutation_p.L174Q|AKAP10_uc010cqw.1_Missense_Mutation_p.L174Q|AKAP10_uc010vze.1_Missense_Mutation_p.L95Q	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	174	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CACTGTGTTTAGACTGTGTGC	0.413		NaN											0	0	0	0.003954	0	26	57				
MAP2K3	5606	broad.mit.edu	37	17	21205466	21205466	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:21205466G>T	uc002gys.2	+	6	676	c.411G>T	c.(409-411)TGG>TGT	p.W137C	MAP2K3_uc002gyt.2_Missense_Mutation_p.W108C|MAP2K3_uc002gyu.2_Missense_Mutation_p.W108C	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	137	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAGACGTGTGGATCTGCATGG	0.507		NaN											1	0	1.96292e-10	0.010504	2.05215e-10	15	77				
FOXN1	8456	broad.mit.edu	37	17	26862193	26862193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:26862193C>T	uc010crm.2	+	8	1802	c.1604C>T	c.(1603-1605)TCA>TTA	p.S535L	FOXN1_uc002hbj.2_Missense_Mutation_p.S535L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	535					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					ATCAATCCCTCACTCACTGAC	0.597		NaN											0	0	0	0.008871	0	16	37				
SUPT6H	6830	broad.mit.edu	37	17	27010765	27010765	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27010765C>T	uc002hby.2	+	17	2250	c.2160C>T	c.(2158-2160)TTC>TTT	p.F720F	SUPT6H_uc010crt.2_Silent_p.F720F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	720					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TACAGCAGTTCCTCTATGTGC	0.473		NaN											0	0	0	0.007413	0	19	38				
TLCD1	116238	broad.mit.edu	37	17	27051729	27051729	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27051729G>C	uc002hco.2	-	4	658	c.543C>G	c.(541-543)CTC>CTG	p.L181L	TLCD1_uc010waw.1_Silent_p.L134L	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	181	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					CCAGGCGGAAGAGAAAGTACA	0.512		NaN											0	0	0	0.003954	0	23	94				
TAOK1	57551	broad.mit.edu	37	17	27809286	27809286	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27809286G>A	uc002hdz.1	+	8	829	c.635G>A	c.(634-636)GGA>GAA	p.G212E	TAOK1_uc010wbe.1_Missense_Mutation_p.G212E|TAOK1_uc010wbf.1_Missense_Mutation_p.G212E|TAOK1_uc002heb.1_Missense_Mutation_p.G38E	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	212	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TGGTCTCTTGGAATAACATGT	0.313		NaN											0	0	0	0.00874	0	36	70				
CPD	1362	broad.mit.edu	37	17	28750013	28750013	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:28750013A>G	uc002hfb.1	+	5	1644	c.1629A>G	c.(1627-1629)ATA>ATG	p.I543M	CPD_uc010wbo.1_Missense_Mutation_p.I296M|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	543	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TGATGGAGATATCTGATAATC	0.383		NaN											0	0	0	0.003163	0	15	42				
CCT6B	10693	broad.mit.edu	37	17	33259398	33259398	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:33259398G>C	uc002hig.2	-	11	1429	c.1335C>G	c.(1333-1335)CTC>CTG	p.L445L	CCT6B_uc010ctg.2_Silent_p.L408L|CCT6B_uc010wcc.1_Silent_p.L400L	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	445					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				TGGGAATAATGAGTAAGGCAT	0.383		NaN											0	0	0	0.014323	0	20	82				
UNC45B	146862	broad.mit.edu	37	17	33482390	33482390	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:33482390C>T	uc002hja.2	+	7	812	c.715C>T	c.(715-717)CTG>TTG	p.L239L	UNC45B_uc002hjb.2_Silent_p.L239L|UNC45B_uc002hjc.2_Silent_p.L239L|UNC45B_uc010cto.2_Silent_p.L239L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	239	ARM 2.				cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGAGATGTCTCTGGCTGTCTG	0.557		NaN											0	0	0	0.00623	0	40	72				
CDC6	990	broad.mit.edu	37	17	38445697	38445697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:38445697C>T	uc002huj.1	+	2	235	c.25C>T	c.(25-27)CAG>TAG	p.Q9*		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	9					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						ATCCCAGGCACAGGCTACAAT	0.408		NaN											0	0	0	0.003271	0	29	46				
KRT25	147183	broad.mit.edu	37	17	38910244	38910244	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:38910244G>A	uc002hve.2	-	3	598	c.537C>T	c.(535-537)CAC>CAT	p.H179H		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	179	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CTACACTCTGGTGAAGAGCCA	0.408		NaN											0	0	0	0.004007	0	13	71				
PTRF	284119	broad.mit.edu	37	17	40575088	40575088	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:40575088C>G	uc002hzo.2	-	1	187	c.28G>C	c.(28-30)GAG>CAG	p.E10Q	PTRF_uc010wgi.1_Missense_Mutation_p.E10Q	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	10					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGCGGCCGCTCGACAATATAG	0.726		NaN											0	0	0	0.004672	0	3	8				
COASY	80347	broad.mit.edu	37	17	40716813	40716813	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:40716813G>A	uc002hzz.2	+	5	1291	c.1134G>A	c.(1132-1134)CTG>CTA	p.L378L	COASY_uc010cyj.2_Silent_p.L407L|COASY_uc002iab.2_Silent_p.L83L|COASY_uc002iad.2_Silent_p.L378L|COASY_uc002iac.2_Silent_p.L378L|COASY_uc002iae.2_Silent_p.L173L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	378	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTCAGCGACTGAAGGGCCTGG	0.587		NaN											0	0	0	0.006999	0	39	73				
PLCD3	113026	broad.mit.edu	37	17	43195690	43195690	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:43195690G>A	uc002iib.2	-	6	1197	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	361	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TGGGCCCCCCGATCTGGGAGT	0.592		NaN											0	0	0	0.013726	0	28	85				
HOXB1	3211	broad.mit.edu	37	17	46607930	46607930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46607930G>C	uc002ink.1	-	1	343	c.337C>G	c.(337-339)CCC>GCC	p.P113A		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	113						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TAGCTCGAGGGATGAAAATAG	0.642		NaN											0	0	0	0.00632	0	25	146				
HOXB3	3213	broad.mit.edu	37	17	46628332	46628332	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46628332C>T	uc002inn.2	-	2	1060	c.660G>A	c.(658-660)GAG>GAA	p.E220E	HOXB3_uc010wlm.1_Silent_p.E147E|HOXB3_uc010dbf.2_Silent_p.E220E|HOXB3_uc010dbg.2_Silent_p.E220E|HOXB3_uc002ino.2_Silent_p.E220E|HOXB3_uc010wlk.1_Silent_p.E88E|HOXB3_uc010wll.1_Silent_p.E147E	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	220	Homeobox.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTTGGCCATCTCTACACGGC	0.607		NaN											0	0	0	0.01441	0	53	229				
HOXB9	3219	broad.mit.edu	37	17	46703546	46703547	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46703546_46703547GG>AA	uc002inx.2	-	1	289_290	c.85_86CC>TT	c.(85-87)CCT>TTT	p.P29F		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	29					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGGCCAGAAGGAAACTTGGCT	0.604		NaN											0	0	0	0.004672	0	6	24				
EPN3	55040	broad.mit.edu	37	17	48614133	48614133	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:48614133G>A	uc002ira.3	+	2	651	c.216G>A	c.(214-216)CGG>CGA	p.R72R	EPN3_uc010wms.1_Silent_p.R127R|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.R72R	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	72	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGAACTGGCGGCACGTGTACA	0.597		NaN											0	0	0	0.009535	0	31	131				
SPAG9	9043	broad.mit.edu	37	17	49198014	49198014	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:49198014C>G	uc002itc.2	-	1	213	c.4G>C	c.(4-6)GAG>CAG	p.E2Q	SPAG9_uc002itb.2_Missense_Mutation_p.E2Q|SPAG9_uc002itd.2_Missense_Mutation_p.E2Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	2					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCCTCCAGCTCCATGGTGGCA	0.552		NaN											0	0	0	0.001168	0	5	8				
CA10	56934	broad.mit.edu	37	17	49825019	49825019	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:49825019G>A	uc002itw.3	-	4	1425	c.439C>T	c.(439-441)CTC>TTC	p.L147F	CA10_uc002itu.3_Missense_Mutation_p.L76F|CA10_uc002itv.3_Missense_Mutation_p.L153F|CA10_uc002itx.3_Missense_Mutation_p.L147F|CA10_uc002ity.3_Missense_Mutation_p.L147F|CA10_uc002itz.2_Missense_Mutation_p.L147F	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	147					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTCCATTGAGGAGGTGCTCC	0.507		NaN											0	0	0	0.01441	0	38	183				
PCTP	58488	broad.mit.edu	37	17	53844767	53844767	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:53844767C>T	uc002iul.3	+	2	322	c.213C>T	c.(211-213)ATC>ATT	p.I71I	PCTP_uc002ium.3_5'UTR|PCTP_uc010dcg.2_Silent_p.I71I|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	71	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGGCAGACATCTATATGGACT	0.323		NaN											0	0	0	0.00632	0	21	36				
PTRH2	51651	broad.mit.edu	37	17	57775139	57775139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:57775139C>T	uc002ixt.2	-	2	326	c.201G>A	c.(199-201)ATG>ATA	p.M67I	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	67					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCACAAGAATCATCTTGTACT	0.468		NaN											0	0	0	0.003755	0	36	93				
KCNH6	81033	broad.mit.edu	37	17	61623247	61623247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:61623247G>A	uc002jay.2	+	14	3049	c.2969G>A	c.(2968-2970)GGG>GAG	p.G990E	KCNH6_uc010wpl.1_Missense_Mutation_p.G831E|KCNH6_uc010wpm.1_Missense_Mutation_p.G954E|KCNH6_uc002jaz.1_Missense_Mutation_p.G901E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	990	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGATTTGCAGGGAGTTGGGGC	0.507		NaN											0	0	0	0.007413	0	17	52				
DDX5	1655	broad.mit.edu	37	17	62499341	62499341	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:62499341C>T	uc002jek.2	-	7	1022	c.775G>A	c.(775-777)GAA>AAA	p.E259K	DDX5_uc010deh.2_Missense_Mutation_p.E259K|DDX5_uc002jej.2_Missense_Mutation_p.E154K|DDX5_uc010wqa.1_Missense_Mutation_p.E180K|DDX5_uc002jel.1_Missense_Mutation_p.E7K	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	259	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATTTGGGGTTCAAAGCCCATA	0.363		NaN	T	ETV4	prostate								0	0	0	0.004656	0	20	92				
CCDC45	90799	broad.mit.edu	37	17	62523291	62523291	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:62523291T>C	uc002jem.2	+	11	1273	c.1215T>C	c.(1213-1215)ACT>ACC	p.T405T	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.T241T	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	405						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AAGAAAATACTGGAAATGAGG	0.413		NaN											0	0	0	0.001984	0	6	30				
BPTF	2186	broad.mit.edu	37	17	65890162	65890162	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:65890162C>G	uc002jgf.2	+	7	2485	c.2424C>G	c.(2422-2424)ATC>ATG	p.I808M	BPTF_uc002jge.2_Missense_Mutation_p.I934M|BPTF_uc010wqm.1_Missense_Mutation_p.I871M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	934					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAATTGGATCAAGGCAGTTC	0.393		NaN											0	0	0	0.01441	0	48	69				
COG1	9382	broad.mit.edu	37	17	71192710	71192710	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:71192710T>A	uc002jjg.2	+	2	416	c.380T>A	c.(379-381)ATT>AAT	p.I127N	COG1_uc002jjh.2_Missense_Mutation_p.I127N|COG1_uc002jjf.1_Missense_Mutation_p.I127N	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	127					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCTTAGAAATTCCGGAGAAG	0.557		NaN											0	0	0	0.01441	0	65	118				
BTBD17	388419	broad.mit.edu	37	17	72353375	72353375	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:72353375C>T	uc002jkn.2	-	3	858	c.858G>A	c.(856-858)CTG>CTA	p.L286L		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	286						extracellular region					0						AGGCCTGCAGCAGGAGGTCGG	0.711		NaN											0	0	0	0.001168	0	4	6				
GRB2	2885	broad.mit.edu	37	17	73316530	73316530	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:73316530G>C	uc002jnx.3	-	6	930	c.573C>G	c.(571-573)CCC>CCG	p.P191P	GRB2_uc002jny.3_Silent_p.P150P	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	191	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TCCACCAGTTGGGGTCTGAGT	0.537		NaN											0	0	0	0.01441	0	56	196				
ITGB4	3691	broad.mit.edu	37	17	73727372	73727372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:73727372G>A	uc002jpg.2	+	10	1325	c.1138G>A	c.(1138-1140)GGC>AGC	p.G380S	ITGB4_uc002jph.2_Missense_Mutation_p.G380S|ITGB4_uc010dgo.2_Missense_Mutation_p.G380S|ITGB4_uc002jpi.3_Missense_Mutation_p.G380S|ITGB4_uc010dgp.1_Missense_Mutation_p.G380S|ITGB4_uc002jpj.2_Missense_Mutation_p.G380S|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	380	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCCCGAGGCCTTCGGAC	0.637		NaN											0	0	0	0.003163	0	15	97				
SFRS2	6427	broad.mit.edu	37	17	74732409	74732409	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:74732409C>T	uc002jsv.2	-	2	670	c.500G>A	c.(499-501)CGA>CAA	p.R167Q	SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R167Q|SFRS2_uc010wtg.1_Missense_Mutation_p.R155Q|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	NM_003016	NP_003007	Q01130	SRSF2_HUMAN	splicing factor, arginine/serine-rich 2	167	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity				0						CTTGGACCTTCGTGCGGATCT	0.622		NaN											0	0	0	0.00333	0	20	92				
DNAH17	8632	broad.mit.edu	37	17	76503684	76503684	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:76503684G>A	uc010wtu.1	-	2	492	c.315C>T	c.(313-315)TCC>TCT	p.S105S						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCGCCGTGGACAGCTTCT	0.592		NaN											0	0	0	0.013537	0	10	55				
CCDC40	55036	broad.mit.edu	37	17	78073333	78073333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:78073333C>G	uc010dht.2	+	20	3215	c.3188C>G	c.(3187-3189)TCA>TGA	p.S1063*	CCDC40_uc002jxm.3_Nonsense_Mutation_p.S846*|CCDC40_uc002jxn.3_Nonsense_Mutation_p.S459*|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1063					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGAACCTTTCAGAGATCGTG	0.552		NaN											0	0	0	0.006999	0	34	35				
P4HB	5034	broad.mit.edu	37	17	79813139	79813139	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:79813139G>A	uc002kbn.1	-	4	700	c.503C>T	c.(502-504)TCT>TTT	p.S168F	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	168					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTGCTTGGCAGAGTCCGACTC	0.552		NaN											0	0	0	0.004289	0	35	117				
DLGAP1	9229	broad.mit.edu	37	18	3499318	3499318	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:3499318C>T	uc002kmf.2	-	10	2866	c.2799G>A	c.(2797-2799)CTG>CTA	p.L933L	DLGAP1_uc002kme.1_Silent_p.L631L|DLGAP1_uc010dkn.2_Silent_p.L641L|DLGAP1_uc010wyw.1_Silent_p.L639L|DLGAP1_uc010wyx.1_Silent_p.L655L|DLGAP1_uc010wyy.1_Silent_p.L617L	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	933					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCGAGCTCTCCAGCGAGCGCT	0.697		NaN											0	0	0	0.004672	0	3	9				
EPB41L3	23136	broad.mit.edu	37	18	5438071	5438071	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:5438071G>C	uc002kmt.1	-	6	654	c.568C>G	c.(568-570)CCA>GCA	p.P190A	EPB41L3_uc010wzh.1_Missense_Mutation_p.P190A|EPB41L3_uc002kmu.1_Missense_Mutation_p.P190A|EPB41L3_uc010dkq.1_Missense_Mutation_p.P81A|EPB41L3_uc010dks.1_Missense_Mutation_p.P212A|EPB41L3_uc002kmv.1_Missense_Mutation_p.P81A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	190	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGGTCTGGTGGATAAAATTTC	0.383		NaN											0	0	0	0.014323	0	15	49				
MIB1	57534	broad.mit.edu	37	18	19321641	19321641	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:19321641G>A	uc002ktq.2	+	1	97	c.97G>A	c.(97-99)GAG>AAG	p.E33K	MIB1_uc002ktp.2_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	33	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			GGACGGCGGCGAGGGCCATGT	0.667		NaN											0	0	0	0.003163	0	14	22				
NPC1	4864	broad.mit.edu	37	18	21136222	21136222	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21136222T>C	uc002kum.3	-	8	1585	c.1311A>G	c.(1309-1311)ATA>ATG	p.I437M	NPC1_uc010xaz.1_Missense_Mutation_p.I238M|NPC1_uc010xba.1_Missense_Mutation_p.I282M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	437					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGTATCTGTATGTCAAGCG	0.498		NaN											0	0	0	0.013114	0	35	71				
LAMA3	3909	broad.mit.edu	37	18	21422437	21422437	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21422437C>A	uc002kuq.2	+	28	3501	c.3415C>A	c.(3415-3417)CCG>ACG	p.P1139T	LAMA3_uc002kur.2_Missense_Mutation_p.P1139T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1139	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCAGCGCACCCGACGTTTCC	0.582		NaN											1	0	6.07242e-22	0.01441	6.54024e-22	56	85				
LAMA3	3909	broad.mit.edu	37	18	21479343	21479343	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21479343G>A	uc002kuq.2	+	47	6014	c.5928G>A	c.(5926-5928)ATG>ATA	p.M1976I	LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.M367I|LAMA3_uc002kut.3_Intron	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1976	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCAGCGCATGATGAGGGAAC	0.493		NaN											0	0	0	0.008871	0	16	59				
DSG1	1828	broad.mit.edu	37	18	28916515	28916515	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:28916515G>A	uc002kwp.2	+	9	1416	c.1204G>A	c.(1204-1206)GAT>AAT	p.D402N		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	402	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGGATCAAATGATAAAGTGGG	0.383		NaN											0	0	0	0.001855	0	12	43				
KIAA1632	57724	broad.mit.edu	37	18	43450624	43450624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:43450624C>T	uc002lbm.2	-	36	6233	c.6133G>A	c.(6133-6135)GAG>AAG	p.E2045K	KIAA1632_uc010xcq.1_Missense_Mutation_p.E599K|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.E920K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2045					autophagy						0						AGAATGAACTCTGGCATTTTG	0.488		NaN											0	0	0	0.006122	0	16	39				
ZNF407	55628	broad.mit.edu	37	18	72775115	72775115	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:72775115C>T	uc002llw.2	+	8	5495	c.5438C>T	c.(5437-5439)TCC>TTC	p.S1813F		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCATTGTTTCCAAGTCGTAC	0.557		NaN											0	0	0	0.01441	0	53	88				
ZNF516	9658	broad.mit.edu	37	18	74091492	74091492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:74091492C>G	uc010dqx.1	-	3	2813	c.2578G>C	c.(2578-2580)GCC>CCC	p.A860P	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCTAGCGGCTTTTGTGACC	0.617		NaN											0	0	0	0.00333	0	22	140				
ATP8B3	148229	broad.mit.edu	37	19	1784889	1784889	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:1784889C>T	uc002ltw.2	-	28	3823	c.3589G>A	c.(3589-3591)GTG>ATG	p.V1197M	ATP8B3_uc002ltv.2_Missense_Mutation_p.V1160M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1197	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTATGGACACACTCAGCAGG	0.637		NaN											0	0	0	0.006214	0	6	33				
THOP1	7064	broad.mit.edu	37	19	2808407	2808407	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:2808407G>C	uc002lwj.2	+	9	1575	c.1420G>C	c.(1420-1422)GAG>CAG	p.E474Q	THOP1_uc010xgz.1_Missense_Mutation_p.E353Q|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	474		By similarity.			proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTTCCATGAGTTTGGCCA	0.512		NaN											0	0	0	0.004482	0	7	39				
CELF5	60680	broad.mit.edu	37	19	3290311	3290311	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:3290311C>T	uc002lxm.2	+	11	1306	c.1269C>T	c.(1267-1269)TTC>TTT	p.F423F	CELF5_uc002lxl.1_Missense_Mutation_p.R410W|CELF5_uc010dtj.1_Missense_Mutation_p.R385W|CELF5_uc010xhg.1_Missense_Mutation_p.R296W|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	423	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						TCCTACCCTTCGGCAATATCA	0.577		NaN											0	0	0	0.010818	0	25	93				
LONP1	9361	broad.mit.edu	37	19	5719793	5719793	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:5719793G>A	uc002mcx.2	-	1	384	c.351C>T	c.(349-351)ATC>ATT	p.I117I	TMEM146_uc010duj.1_5'Flank|TMEM146_uc002mda.2_5'Flank|LONP1_uc002mcy.2_Silent_p.I53I|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Silent_p.I117I|LONP1_uc002mcz.2_Intron	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	117					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						ACACATCGGGGATCGTCATGG	0.532		NaN											0	0	0	0.009718	0	42	77				
RETN	56729	broad.mit.edu	37	19	7734744	7734744	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:7734744G>A	uc002mhf.1	+	3	202	c.156G>A	c.(154-156)CAG>CAA	p.Q52Q	RETN_uc002mhg.1_Silent_p.Q52Q|RETN_uc010dvm.1_Intron	NM_020415	NP_065148	Q9HD89	RETN_HUMAN	resistin	52							hormone activity			ovary(1)	1						TGGAGTGCCAGAGCGTCACCT	0.612		NaN											0	0	0	0.004289	0	28	41				
MAP2K7	5609	broad.mit.edu	37	19	7974989	7974989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:7974989C>T	uc002mit.2	+	3	373	c.308C>T	c.(307-309)ACG>ATG	p.T103M	MAP2K7_uc002miv.2_Missense_Mutation_p.T103M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T103M|MAP2K7_uc010dvv.2_Translation_Start_Site	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	103					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	ATGAAGCAGACGGGCTACCTG	0.647		NaN											0	0	0	0.006214	0	7	18				
QTRT1	81890	broad.mit.edu	37	19	10818004	10818004	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:10818004G>A	uc002mpr.2	+	4	503	c.478G>A	c.(478-480)GAC>AAC	p.D160N		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	160					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCAGCTGGACGACGTGGTTAG	0.572		NaN											0	0	0	0.01441	0	39	215				
DNM2	1785	broad.mit.edu	37	19	10897350	10897350	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:10897350C>T	uc002mps.1	+	7	1124	c.960C>T	c.(958-960)GAC>GAT	p.D320D	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.D320D|DNM2_uc002mpv.1_Silent_p.D320D|DNM2_uc002mpu.1_Silent_p.D320D|DNM2_uc010dxl.1_Silent_p.D320D|DNM2_uc002mpw.2_Silent_p.D53D	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	320					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCGGCCCGACGACCCCACCC	0.637		NaN											0	0	0	0.012319	0	21	27				
KANK2	25959	broad.mit.edu	37	19	11287304	11287304	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11287304G>A	uc010dxv.2	-	9	2268	c.1710C>T	c.(1708-1710)CAC>CAT	p.H570H	KANK2_uc002mqm.2_Silent_p.H578H|KANK2_uc002mqo.3_Silent_p.H570H|KANK2_uc002mqp.1_Silent_p.H379H	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	570											0						CAGTGGGTATGTGCTGAGATT	0.632		NaN											0	0	0	0.01441	0	70	244				
DOCK6	57572	broad.mit.edu	37	19	11332547	11332548	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11332547_11332548GG>AT	uc002mqs.3	-	28	3570_3571	c.3529_3530CC>AT	c.(3529-3531)CCA>ATA	p.P1177I	DOCK6_uc010xlq.1_Missense_Mutation_p.P516I	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1177					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ATGCAGCCGTGGCAAGGTATCC	0.584		NaN											0	0	0	0.004672	0	92	204				
ZNF823	55552	broad.mit.edu	37	19	11832850	11832850	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11832850T>G	uc002msm.2	-	4	1625	c.1499A>C	c.(1498-1500)GAG>GCG	p.E500A	ZNF823_uc010xmd.1_Missense_Mutation_p.E318A|ZNF823_uc010dyi.1_Missense_Mutation_p.E456A	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	500	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTTTTACACTCATAAGGTTT	0.378		NaN								HNSCC(68;0.2)			0	0	0	0.014323	0	22	28				
BRD4	23476	broad.mit.edu	37	19	15355563	15355563	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:15355563C>T	uc002nar.2	-	12	2391	c.2169G>A	c.(2167-2169)CCG>CCA	p.P723P		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	723					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTTTTGACTTCGGAGCCATCT	0.567		NaN	T	NUT|C15orf55	lethal midline carcinoma of young people								0	0	0	0.00623	0	34	172				
ANO8	57719	broad.mit.edu	37	19	17440802	17440802	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:17440802G>C	uc002ngf.2	-	11	1454	c.1295C>G	c.(1294-1296)GCC>GGC	p.A432G	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	432	Extracellular (Potential).|Leu-rich.					chloride channel complex	chloride channel activity			ovary(3)	3						CTTCTCATAGGCGCTCTCCAG	0.627		NaN											0	0	0	0.012213	0	30	122				
ZNF536	9745	broad.mit.edu	37	19	31040309	31040309	+	Silent	SNP	G	G	A	rs139373364		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:31040309G>A	uc002nsu.1	+	4	3921	c.3783G>A	c.(3781-3783)CCG>CCA	p.P1261P	ZNF536_uc010edd.1_Silent_p.P1261P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGGACAAGCCGATGAACATGC	0.597		NaN											0	0	0	0.008291	0	9	27				
FFAR2	2867	broad.mit.edu	37	19	35940871	35940871	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:35940871G>A	uc002nzg.2	+	2	335	c.255G>A	c.(253-255)ACG>ACA	p.T85T	FFAR2_uc010eea.2_Silent_p.T85T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	85	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCCTCACGAGTTTTGGCT	0.622		NaN											0	0	0	0.00245	0	13	22				
HCST	10870	broad.mit.edu	37	19	36393522	36393522	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:36393522C>T	uc002ocl.1	+	1	141	c.27C>T	c.(25-27)TTC>TTT	p.F9F	NFKBID_uc002oci.1_5'Flank|NFKBID_uc002ocj.1_5'Flank|HCST_uc002ock.1_Silent_p.F9F	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer isoform 1	9					regulation of immune response	integral to membrane|plasma membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACATCCTCTTCCTGCTTTTGC	0.582		NaN											0	0	0	0.01441	0	174	213				
GRIK5	2901	broad.mit.edu	37	19	42558025	42558025	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:42558025G>A	uc002osj.1	-	9	1148	c.1113C>T	c.(1111-1113)ACC>ACT	p.T371T	GRIK5_uc010eib.1_Silent_p.T290T	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	371	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGGTGTAGTTGGTTCTCTGCC	0.662		NaN											0	0	0	0.005443	0	22	51				
CEACAM8	1088	broad.mit.edu	37	19	43093837	43093837	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:43093837C>T	uc002oud.2	-	3	577	c.475G>A	c.(475-477)GAC>AAC	p.D159N	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	159	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GCATCCTTGTCCTCCACGGGG	0.552		NaN											0	0	0	0.01441	0	86	214				
ERCC2	2068	broad.mit.edu	37	19	45860556	45860556	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:45860556G>A	uc002pbj.2	-	15	1498	c.1451C>T	c.(1450-1452)ACG>ATG	p.T484M	ERCC2_uc002pbh.2_Missense_Mutation_p.T47M|ERCC2_uc002pbi.2_Missense_Mutation_p.T177M|ERCC2_uc010ejz.2_Missense_Mutation_p.T406M|ERCC2_uc002pbk.2_Missense_Mutation_p.T460M	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	484	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGTGCCAGCGTCATGGTGAA	0.652		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.010818	0	27	50		Valid		
SLC8A2	6543	broad.mit.edu	37	19	47933517	47933517	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:47933517G>A	uc002pgx.2	-	10	2873	c.2595C>T	c.(2593-2595)TTC>TTT	p.F865F	SLC8A2_uc010xyq.1_Silent_p.F621F|SLC8A2_uc010xyr.1_Silent_p.F328F|SLC8A2_uc010ele.2_Missense_Mutation_p.R892C	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	865	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCACGAAGGCGAAGACGGTGA	0.726		NaN											0	0	0	0.00308	0	7	23				
EHD2	30846	broad.mit.edu	37	19	48229178	48229178	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:48229178C>T	uc002phj.3	+	4	862	c.612C>T	c.(610-612)ATC>ATT	p.I204I	EHD2_uc010xyu.1_Silent_p.I68I|EHD2_uc010xyv.1_5'Flank	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	204					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CAGAGGCCATCGGCGCGTTGC	0.637		NaN											0	0	0	0.012319	0	19	32				
RASIP1	54922	broad.mit.edu	37	19	49238513	49238513	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49238513G>A	uc002pki.2	-	4	1316	c.1119C>T	c.(1117-1119)CTC>CTT	p.L373L		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	373					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCCTGGATGAGGCACTGAG	0.667		NaN											0	0	0	0.004656	0	19	59				
PPP1R15A	23645	broad.mit.edu	37	19	49379181	49379181	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49379181C>T	uc002pky.3	+	3	2245	c.1976C>T	c.(1975-1977)TCG>TTG	p.S659L		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	659					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTTCCCGCTCGTCTGCTGCT	0.567		NaN											0	0	0	0.01441	0	82	169				
GYS1	2997	broad.mit.edu	37	19	49473902	49473902	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49473902G>T	uc002plp.2	-	14	1951	c.1710C>A	c.(1708-1710)TTC>TTA	p.F570L	GYS1_uc010xzy.1_Missense_Mutation_p.F203L|GYS1_uc010emm.2_Missense_Mutation_p.F506L|GYS1_uc010xzz.1_Missense_Mutation_p.F490L	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	570					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AACTGTAGAGGAAGGAGGTGA	0.592		NaN									OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.35188e-11	0.006122	2.47329e-11	17	58				
HRC	3270	broad.mit.edu	37	19	49658061	49658061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49658061G>C	uc002pmv.2	-	1	621	c.434C>G	c.(433-435)TCA>TGA	p.S145*	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	145	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|2-2.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGCTCAGCTGAGTCTTCCGT	0.582		NaN											0	0	0	0.00874	0	44	110				
KLK2	3817	broad.mit.edu	37	19	51381756	51381756	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:51381756T>C	uc002ptv.2	+	5	768	c.727T>C	c.(727-729)TAC>CAC	p.Y243H	KLK2_uc002ptu.2_3'UTR|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.Y226H|KLK2_uc010ycm.1_Missense_Mutation_p.Y141H|KLK2_uc010eoh.2_Missense_Mutation_p.Y141H	NM_005551	NP_005542	P20151	KLK2_HUMAN	kallikrein 2, prostatic isoform 1	243	Peptidase S1.				proteolysis		serine-type endopeptidase activity			ovary(1)|skin(1)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCTGCTGTGTACACCAAGGT	0.537		NaN	T	ETV4	prostate								0	0	0	0.01441	0	124	266				
KLK8	11202	broad.mit.edu	37	19	51499316	51499316	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:51499316C>T	uc002pur.1	-	6	961	c.782G>A	c.(781-783)TGA>TAA	p.*261*	KLK8_uc002puq.1_Silent_p.*306*|KLK8_uc002pus.1_Silent_p.*120*|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Silent_p.*261*|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	261					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ATCCTAGAATCAGCCCTTGCT	0.537		NaN											0	0	0	0.01441	0	100	245				
ZNF160	90338	broad.mit.edu	37	19	53572357	53572357	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:53572357C>T	uc010eqk.2	-	7	1846	c.1430G>A	c.(1429-1431)GGA>GAA	p.G477E	ZNF160_uc002qaq.3_Missense_Mutation_p.G477E|ZNF160_uc002qar.3_Missense_Mutation_p.G477E	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	477					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		AGGTTTTGTTCCAGTATGGAT	0.398		NaN											0	0	0	0.009718	0	36	84				
LILRA2	11027	broad.mit.edu	37	19	55087422	55087422	+	Silent	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:55087422G>T	uc002qgg.3	+	6	1190	c.1101G>T	c.(1099-1101)CTG>CTT	p.L367L	LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	367	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587		NaN											1	0	1.15919e-05	0.008871	1.19092e-05	19	122				
NLRP4	147945	broad.mit.edu	37	19	56369129	56369129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:56369129G>A	uc002qmd.3	+	3	792	c.370G>A	c.(370-372)GAG>AAG	p.E124K	NLRP4_uc002qmf.2_Missense_Mutation_p.E49K|NLRP4_uc010etf.2_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	124							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTATACTTTGAGGAGGAAGT	0.473		NaN											0	0	0	0.009718	0	34	69				
NLRP5	126206	broad.mit.edu	37	19	56538546	56538546	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:56538546T>A	uc002qmj.2	+	7	947	c.947T>A	c.(946-948)GTC>GAC	p.V316D	NLRP5_uc002qmi.2_Missense_Mutation_p.V297D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	316	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCTCCTACGTCTTCTTCCTC	0.567		NaN											0	0	0	0.004482	0	8	14				
ZNF134	7693	broad.mit.edu	37	19	58131977	58131977	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:58131977G>C	uc002qpn.2	+	3	589	c.490G>C	c.(490-492)GAG>CAG	p.E164Q	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGGAGCACTGAGAGTGGGGA	0.488		NaN											0	0	0	0.00333	0	22	35				
ZNF324	25799	broad.mit.edu	37	19	58982235	58982235	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:58982235C>T	uc002qsw.1	+	4	470	c.376C>T	c.(376-378)CGG>TGG	p.R126W	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAGACAACGGGGTGCCTC	0.602		NaN											0	0	0	0.01441	0	50	109				
MYT1L	23040	broad.mit.edu	37	2	1855420	1855420	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:1855420G>A	uc002qxe.2	-	19	3594	c.2767C>T	c.(2767-2769)CAT>TAT	p.H923Y	MYT1L_uc002qxd.2_Missense_Mutation_p.H921Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	923	C2HC-type 4.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCCGATGAGAAGCATAA	0.433		NaN											0	0	0	0.01441	0	49	110				
RHOB	388	broad.mit.edu	37	2	20647266	20647266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:20647266G>A	uc002rdv.2	+	1	432	c.40G>A	c.(40-42)GGC>AGC	p.G14S		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	14	GTP (By similarity).			G->V: No effect on internalization of EGF receptor but decreases trafficking of receptor to the lysosome with associated accumulation in late endosomes.	angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GGTGGGCGACGGCGCGTGTGG	0.677		NaN											0	0	0	0.010818	0	28	72		Valid		
ITSN2	50618	broad.mit.edu	37	2	24538094	24538094	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:24538094C>T	uc002rfe.2	-	3	290	c.32_splice	c.e3-1	p.G11_splice	ITSN2_uc002rff.2_Splice_Site_p.G11_splice|ITSN2_uc002rfg.2_Splice_Site_p.G11_splice|ITSN2_uc010eyd.2_Splice_Site_p.G11_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGCCCTCCTGAAACATAA	0.358		NaN											0	0	0	0.003163	0	14	43				
C2orf70	339778	broad.mit.edu	37	2	26799014	26799014	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:26799014C>T	uc010eyn.2	+	2	319	c.319C>T	c.(319-321)CGC>TGC	p.R107C		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	107										skin(1)	1						GGACAGCCATCGCTCCACAGA	0.637		NaN											0	0	0	0.01441	0	81	113				
BIRC6	57448	broad.mit.edu	37	2	32832645	32832645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:32832645C>T	uc010ezu.2	+	72	14328	c.14194C>T	c.(14194-14196)CGA>TGA	p.R4732*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4732					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGAAACATTCGACAAGCAAC	0.378		NaN											0	0	0	0.009535	0	31	52				
FAM98A	25940	broad.mit.edu	37	2	33813494	33813494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:33813494G>A	uc002rpa.1	-	4	504	c.430C>T	c.(430-432)CAA>TAA	p.Q144*	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Nonsense_Mutation_p.Q21*	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	144										ovary(1)	1	all_hematologic(175;0.115)					TTCAACTCTTGAAAGACCTCA	0.423		NaN											0	0	0	0.00623	0	35	87				
ZFP36L2	678	broad.mit.edu	37	2	43452474	43452474	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:43452474C>T	uc002rsv.3	-	2	760	c.469G>A	c.(469-471)GAG>AAG	p.E157K	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	157	C3H1-type 1.|RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGGCACAGCTCGGTCTTGTAG	0.652		NaN											0	0	0	0.013537	0	12	45				
ZFP36L2	678	broad.mit.edu	37	2	43452478	43452478	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:43452478C>G	uc002rsv.3	-	2	756	c.465G>C	c.(463-465)AAG>AAC	p.K155N	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	155	C3H1-type 1.|RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ACAGCTCGGTCTTGTAGCGCG	0.657		NaN											0	0	0	0.010729	0	11	47				
ATP6V1E2	90423	broad.mit.edu	37	2	46739578	46739578	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:46739578G>C	uc002ruy.2	-	2	1387	c.273C>G	c.(271-273)ATC>ATG	p.I91M	ATP6V1E2_uc002ruz.2_Missense_Mutation_p.I91M	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1	91					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAAATCTGAGATGAGGTCAT	0.527		NaN											0	0	0	0.003755	0	29	70				
SPTBN1	6711	broad.mit.edu	37	2	54848571	54848571	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:54848571A>T	uc002rxu.2	+	8	1047	c.798A>T	c.(796-798)ATA>ATT	p.I266I	SPTBN1_uc002rxv.1_Silent_p.I266I|SPTBN1_uc002rxx.2_Silent_p.I253I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	266	CH 2.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGAAGTCCATAATCACTTATG	0.463		NaN											0	0	0	0.004878	0	33	72				
REG3A	5068	broad.mit.edu	37	2	79385578	79385578	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:79385578C>T	uc002sod.1	-	3	462	c.207G>A	c.(205-207)CAG>CAA	p.Q69Q	REG3A_uc002soe.1_Silent_p.Q69Q|REG3A_uc002sof.1_Silent_p.Q69Q	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	69	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						AGGGCCGCTTCTGGCAGGCCA	0.572		NaN											0	0	0	0.005524	0	32	76				
LRRTM1	347730	broad.mit.edu	37	2	80530727	80530727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:80530727C>T	uc002sok.1	-	2	488	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	73	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCTGTTGTAGCGCAGGGACAA	0.662		NaN								HNSCC(69;0.2)			0	0	0	0.01441	0	48	114				
POLR1A	25885	broad.mit.edu	37	2	86305369	86305369	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:86305369C>T	uc002sqs.2	-	10	1504	c.1125G>A	c.(1123-1125)TTG>TTA	p.L375L	POLR1A_uc002sqv.2_Silent_p.L375L	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	375					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GAAGTGTACTCAAAAAGGATC	0.423		NaN											0	0	0	0.00333	0	22	41				
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:97779539C>G	uc010yva.1	+	1	307	c.63C>G	c.(61-63)TTC>TTG	p.F21L	ANKRD36_uc002sxn.2_Missense_Mutation_p.F21L|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.F21L|ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21											0						CGGATGGCTTCGCATTTCCCC	0.512		NaN											0	0	0	0.01441	0	54	90				
EIF5B	9669	broad.mit.edu	37	2	99998633	99998633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:99998633G>C	uc002tab.2	+	13	2257	c.2073G>C	c.(2071-2073)GAG>GAC	p.E691D		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	691					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TTGATAGAGAGAATGTACGGA	0.353		NaN											0	0	0	0.006214	0	8	53				
SLC5A7	60482	broad.mit.edu	37	2	108608587	108608587	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:108608587C>T	uc002tdv.2	+	3	480	c.204C>T	c.(202-204)ATC>ATT	p.I68I	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I68I|SLC5A7_uc010ywn.1_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	68	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	GAGGGTATATCAATGGCACAG	0.393		NaN											0	0	0	0.011902	0	34	75				
RANBP2	5903	broad.mit.edu	37	2	109398640	109398640	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:109398640A>G	uc002tem.3	+	27	8943	c.8817A>G	c.(8815-8817)AAA>AAG	p.K2939K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2939	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AGAGAGCCAAACTTTATAGAT	0.363		NaN											0	0	0	0.010504	0	17	28				
PSD4	23550	broad.mit.edu	37	2	113955352	113955352	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:113955352A>G	uc002tjc.2	+	14	2669	c.2486A>G	c.(2485-2487)GAG>GGG	p.E829G	PSD4_uc002tjd.2_Missense_Mutation_p.E449G|PSD4_uc002tje.2_Missense_Mutation_p.E799G|PSD4_uc002tjf.2_Missense_Mutation_p.E450G|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Missense_Mutation_p.E59G|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTGGAGGGGGAGAGCTTGGTG	0.622		NaN											0	0	0	0.000602	0	3	107				
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:116066832C>T	uc002tla.1	+	2	535	c.78C>T	c.(76-78)AGC>AGT	p.S26S	DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Silent_p.S22S|DPP10_uc002tle.2_Silent_p.S30S|DPP10_uc002tlf.1_Silent_p.S19S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	26	Mediates effects on KCND2.|Cytoplasmic (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAAGTAACAGCCCTCCACAGA	0.403		NaN											0	0	0	0.008871	0	19	24				
DPP10	57628	broad.mit.edu	37	2	116572442	116572442	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:116572442G>A	uc002tla.1	+	20	2231	c.1774G>A	c.(1774-1776)GAT>AAT	p.D592N	DPP10_uc002tlb.1_Missense_Mutation_p.D542N|DPP10_uc002tlc.1_Missense_Mutation_p.D588N|DPP10_uc002tle.2_Missense_Mutation_p.D596N|DPP10_uc002tlf.1_Missense_Mutation_p.D585N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	592	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CATTGACATGGATAATGTCAT	0.413		NaN											0	0	0	0.00333	0	20	73				
WDR33	55339	broad.mit.edu	37	2	128467402	128467402	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:128467402C>T	uc002tpg.1	-	19	3520	c.3337G>A	c.(3337-3339)GAG>AAG	p.E1113K		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1113					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCACGGCCCTCATGCCTCGGC	0.522		NaN											0	0	0	0.01441	0	73	130				
WDR33	55339	broad.mit.edu	37	2	128482710	128482710	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:128482710G>C	uc002tpg.1	-	9	1114	c.931C>G	c.(931-933)CTC>GTC	p.L311V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	311	WD 5.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTTTACAGAGATGATCACGT	0.383		NaN											0	0	0	0.010729	0	9	13				
POTEF	728378	broad.mit.edu	37	2	130878029	130878029	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:130878029G>C	uc010fmh.2	-	3	460	c.60C>G	c.(58-60)CTC>CTG	p.L20L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	20						cell cortex	ATP binding			skin(3)|ovary(2)	5						TCTTGCTCCTGAGACCAAATG	0.557		NaN											0	0	0	0.006999	0	23	146				
CCDC115	84317	broad.mit.edu	37	2	131098587	131098587	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:131098587A>C	uc002tqy.1	-	4	548	c.324T>G	c.(322-324)ACT>ACG	p.T108T	CCDC115_uc002tqw.1_Silent_p.T100T|CCDC115_uc010zaf.1_Silent_p.T103T|CCDC115_uc002tqx.2_Silent_p.T103T|CCDC115_uc002tqz.1_Silent_p.T108T|IMP4_uc002tra.1_5'Flank	NM_032357	NP_115733	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	108						endosome|lysosome					0	Colorectal(110;0.1)					CTGGGGTCTTAGTGGGGCCCT	0.522		NaN											0	0	0	0.001168	0	5	17				
FAM168B	130074	broad.mit.edu	37	2	131810476	131810476	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:131810476T>C	uc002tsd.2	-	6	817	c.588A>G	c.(586-588)TGA>TGG	p.*196W		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	hypothetical protein LOC130074	196											0						TTGCAGGTGATCACCACTGAG	0.557		NaN											0	0	0	0.009096	0	3	8				
GPR39	2863	broad.mit.edu	37	2	133174626	133174626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133174626C>T	uc002ttl.2	+	1	480	c.11C>T	c.(10-12)CCC>CTC	p.P4L		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	4	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ATGGCTTCACCCAGCCTCCCG	0.517		NaN											0	0	0	0.003755	0	28	51				
NCKAP5	344148	broad.mit.edu	37	2	133531409	133531409	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133531409A>G	uc002ttp.2	-	16	5482	c.5108T>C	c.(5107-5109)GTA>GCA	p.V1703A	NCKAP5_uc002ttq.2_Missense_Mutation_p.V384A	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1703							protein binding				0						GCTCTGAAATACAGAATCTGC	0.343		NaN											0	0	0	0.01441	0	40	67				
NCKAP5	344148	broad.mit.edu	37	2	133721430	133721430	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133721430C>T	uc002ttp.2	-	8	816	c.442G>A	c.(442-444)GAG>AAG	p.E148K	NCKAP5_uc002ttq.2_Missense_Mutation_p.E148K|NCKAP5_uc002tts.1_Missense_Mutation_p.E123K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	148	Potential.						protein binding				0						CTCTCTTCCTCTGACAGCTTT	0.403		NaN											0	0	0	0.003163	0	14	83				
ZEB2	9839	broad.mit.edu	37	2	145154073	145154073	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:145154073G>C	uc002tvu.2	-	9	3453	c.2973C>G	c.(2971-2973)ATC>ATG	p.I991M	ZEB2_uc002tvv.2_Missense_Mutation_p.I985M|ZEB2_uc010zbm.1_Missense_Mutation_p.I962M|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	991						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTCTTCTTGATCTTTTTGC	0.443		NaN											0	0	0	0.01441	0	56	91				
GALNT13	114805	broad.mit.edu	37	2	155099224	155099224	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:155099224G>C	uc002tyr.3	+	6	1059	c.492G>C	c.(490-492)TTG>TTC	p.L164F	GALNT13_uc002tyt.3_Missense_Mutation_p.L164F|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	164	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TTCTCAAGTTGACATTAGAGA	0.338		NaN											0	0	0	0.010729	0	11	25				
SCRN3	79634	broad.mit.edu	37	2	175263091	175263091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:175263091C>G	uc002uiq.2	+	2	168	c.80C>G	c.(79-81)TCA>TGA	p.S27*	CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	27					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GGAAAAAATTCAGATAGACTC	0.343		NaN											0	0	0	0.008871	0	18	96				
TTN	7273	broad.mit.edu	37	2	179480041	179480041	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:179480041C>T	uc010zfg.1	-	208	41151	c.40927G>A	c.(40927-40929)GAA>AAA	p.E13643K	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7338K|TTN_uc010zfi.1_Missense_Mutation_p.E7271K|TTN_uc010zfj.1_Missense_Mutation_p.E7146K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14570							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTTGTTTCTGCAACAGGT	0.373		NaN											0	0	0	0.004656	0	23	36				
ANKAR	150709	broad.mit.edu	37	2	190593496	190593496	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:190593496G>A	uc002uqw.1	+	14	2929	c.2929G>A	c.(2929-2931)GCT>ACT	p.A977T	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.A144T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1048						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAGTACGATTGCTGAAGGCAC	0.373		NaN											0	0	0	0.01441	0	55	28				
MYO1B	4430	broad.mit.edu	37	2	192256914	192256914	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:192256914G>C	uc010fsg.2	+	19	2318	c.2063G>C	c.(2062-2064)CGA>CCA	p.R688P	MYO1B_uc002usq.2_Missense_Mutation_p.R688P|MYO1B_uc002usr.2_Missense_Mutation_p.R688P|MYO1B_uc002usu.2_5'UTR	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	688	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ATATTCATCCGAAACCCAAGA	0.303		NaN											0	0	0	0.004007	0	12	49				
DNAH7	56171	broad.mit.edu	37	2	196729276	196729276	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:196729276G>C	uc002utj.3	-	41	7204	c.7103C>G	c.(7102-7104)TCT>TGT	p.S2368C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2368	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATACCCCTTAGAGATTTCAAC	0.448		NaN											0	0	0	0.013537	0	9	70				
CDK15	65061	broad.mit.edu	37	2	202744799	202744799	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:202744799A>C	uc002uyt.2	+	12	1156	c.1107A>C	c.(1105-1107)AAA>AAC	p.K369N	CDK15_uc002uys.2_Missense_Mutation_p.K318N|CDK15_uc010ftn.1_Missense_Mutation_p.K318N|CDK15_uc002uyu.1_RNA	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	369	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	AGATGCTAAAAGGCTTTCCCA	0.542		NaN											0	0	0	0.007413	0	16	53				
NBEAL1	65065	broad.mit.edu	37	2	204078256	204078256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204078256C>G	uc002uzt.3	+	54	8196	c.7863C>G	c.(7861-7863)ATC>ATG	p.I2621M	NBEAL1_uc002uzs.3_Missense_Mutation_p.I1262M|NBEAL1_uc002uzu.2_Missense_Mutation_p.I116M	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2621							binding			ovary(1)|skin(1)	2						ATCTCAGCATCAACCCATTAG	0.289		NaN											0	0	0	0.003163	0	14	97				
CYP20A1	57404	broad.mit.edu	37	2	204154576	204154576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204154576G>A	uc002uzv.3	+	10	1682	c.1060G>A	c.(1060-1062)GAC>AAC	p.D354N	CYP20A1_uc002uzx.3_Missense_Mutation_p.D252N|CYP20A1_uc010zif.1_Missense_Mutation_p.D362N|CYP20A1_uc002uzy.3_Missense_Mutation_p.D252N|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.D84N	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	354						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						AGGAAAAATTGACCGATTTAT	0.333		NaN											0	0	0	0.00874	0	42	23				
RAPH1	65059	broad.mit.edu	37	2	204304271	204304271	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204304271C>G	uc002vad.2	-	14	3867	c.3642G>C	c.(3640-3642)CAG>CAC	p.Q1214H		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	1214					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						AACCAGCCTTCTGTTGATCAG	0.562		NaN											0	0	0	0.001168	0	6	33				
INO80D	54891	broad.mit.edu	37	2	206869295	206869295	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:206869295C>T	uc002vaz.3	-	11	3286	c.2881G>A	c.(2881-2883)GAA>AAA	p.E961K		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	Error:Variant_position_missing_in_Q53TQ3_after_alignment					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GCCATTAGTTCAGCAGAAGGC	0.597		NaN											0	0	0	0.010729	0	9	11				
ADAM23	8745	broad.mit.edu	37	2	207452091	207452091	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:207452091C>G	uc002vbq.2	+	19	2003	c.1780C>G	c.(1780-1782)CAA>GAA	p.Q594E	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	594	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCATGCAATCAAAATCAGGT	0.289		NaN											0	0	0	0.013537	0	10	47				
IDH1	3417	broad.mit.edu	37	2	209108167	209108167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:209108167G>A	uc002vcs.2	-	6	928	c.682C>T	c.(682-684)CAG>TAG	p.Q228*	IDH1_uc002vct.2_Nonsense_Mutation_p.Q228*|IDH1_uc002vcu.2_Nonsense_Mutation_p.Q228*	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	228					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TATATCTCCTGAAAGATGTCT	0.353		NaN	Mis		gliobastoma 								0	0	0	0.005443	0	25	39				
CPS1	1373	broad.mit.edu	37	2	211513262	211513262	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:211513262G>A	uc002vee.3	+	27	3534	c.3402G>A	c.(3400-3402)TTG>TTA	p.L1134L	CPS1_uc010fur.2_Silent_p.L1140L|CPS1_uc010fus.2_Silent_p.L683L	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1134	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTATGTTTTGAGGTAACACT	0.348		NaN											0	0	0	0.008291	0	9	73				
FN1	2335	broad.mit.edu	37	2	216226285	216226285	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:216226285C>T	uc002vfa.2	-	46	7693	c.7427G>A	c.(7426-7428)CGA>CAA	p.R2476Q	FN1_uc002vfb.2_Missense_Mutation_p.R2264Q|FN1_uc002vfc.2_Missense_Mutation_p.R2239Q|FN1_uc002vfd.2_Missense_Mutation_p.R2420Q|FN1_uc002vfe.2_Missense_Mutation_p.R2354Q|FN1_uc002vff.2_Missense_Mutation_p.R2329Q|FN1_uc002vfg.2_Missense_Mutation_p.R2295Q|FN1_uc002vfh.2_Missense_Mutation_p.R2175Q|FN1_uc002vfi.2_Missense_Mutation_p.R2445Q|FN1_uc002vfj.2_Missense_Mutation_p.R2266Q|FN1_uc002vez.2_Missense_Mutation_p.R639Q|FN1_uc010zjp.1_Missense_Mutation_p.R1013Q	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2385					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTTACTCTCGGGAATCTTC	0.408		NaN											0	0	0	0.008361	0	26	152				
DOCK10	55619	broad.mit.edu	37	2	225751218	225751218	+	Silent	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:225751218T>A	uc010fwz.1	-	5	686	c.447A>T	c.(445-447)TCA>TCT	p.S149S	DOCK10_uc002vob.2_Silent_p.S143S|DOCK10_uc002vod.1_Silent_p.S149S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	149							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAAAGGAATGTGAAGGAAGCT	0.333		NaN											0	0	0	0.010729	0	10	5				
COL4A3	1285	broad.mit.edu	37	2	228157990	228157990	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:228157990A>T	uc002vom.1	+	38	3456	c.3294A>T	c.(3292-3294)GGA>GGT	p.G1098G	COL4A3_uc002von.1_Silent_p.G1098G|COL4A3_uc002voo.1_Silent_p.G1098G|COL4A3_uc002vop.1_Silent_p.G1098G|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1098	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCTGCTGGACCTGAGGGAG	0.527		NaN											0	0	0	0.004672	0	3	29				
RAMP1	10267	broad.mit.edu	37	2	238820246	238820246	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:238820246G>T	uc002vxj.2	+	3	400	c.268G>T	c.(268-270)GAC>TAC	p.D90Y		NM_005855	NP_005846	O60894	RAMP1_HUMAN	receptor activity-modifying protein 1 precursor	90	Extracellular (Potential).				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity				0		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	TGCAGAGGTGGACAGGTTCTT	0.642		NaN											1	0	4.01765e-15	0.009718	4.26278e-15	38	55				
ASB1	51665	broad.mit.edu	37	2	239353166	239353166	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:239353166C>T	uc002vyg.2	+	4	764	c.678C>T	c.(676-678)GTC>GTT	p.V226V		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	226					intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGGTCCTGTCAACACACAGG	0.597		NaN											0	0	0	0.00308	0	6	99				
CSNK2A1	1457	broad.mit.edu	37	20	470507	470507	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:470507C>A	uc002wdw.1	-	10	1033	c.640G>T	c.(640-642)GAT>TAT	p.D214Y	CSNK2A1_uc002wdx.1_Missense_Mutation_p.D214Y|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D78Y	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	214	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CTCCACATATCCAAACTATAA	0.323		NaN											1	0	3.62473e-10	0.012319	3.78394e-10	21	51				
SRXN1	140809	broad.mit.edu	37	20	629543	629543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:629543G>T	uc002wea.2	-	2	290	c.229C>A	c.(229-231)CCC>ACC	p.P77T	SRXN1_uc002web.2_RNA	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1 homolog	77					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			ovary(1)	1						TCGATGGGGGGCACGCTGTCT	0.577		NaN											1	0	2.17888e-05	0.006214	2.23531e-05	9	40				
VPS16	64601	broad.mit.edu	37	20	2844876	2844876	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:2844876A>G	uc002whe.2	+	17	1711	c.1663A>G	c.(1663-1665)ATG>GTG	p.M555V	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.M411V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.M241V|VPS16_uc002whi.2_Missense_Mutation_p.M39V	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	555					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						TCTCCTAAAGATGAAGAGGAG	0.617		NaN											0	0	0	0.012213	0	26	86				
PANK2	80025	broad.mit.edu	37	20	3869809	3869809	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:3869809C>T	uc002wkc.2	+	1	68	c.62C>T	c.(61-63)TCT>TTT	p.S21F	uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	21					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						TCACTCTCTTCTGGGCTACAC	0.677		NaN											0	0	0	0.006122	0	19	14				
TRMT6	51605	broad.mit.edu	37	20	5924896	5924896	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:5924896T>A	uc002wmh.1	-	4	492	c.370A>T	c.(370-372)ATA>TTA	p.I124L	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	124					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TGCTGAACTATTTCCTATAAG	0.308		NaN											0	0	0	0.003163	0	12	17				
PLCB4	5332	broad.mit.edu	37	20	9288501	9288501	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:9288501C>T	uc002wnf.2	+	3	176	c.40C>T	c.(40-42)CCC>TCC	p.P14S	PLCB4_uc010gbw.1_Missense_Mutation_p.P14S|PLCB4_uc010gbx.2_Missense_Mutation_p.P14S|PLCB4_uc002wne.2_Missense_Mutation_p.P14S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	14					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						GAAGGAAGTTCCCTCCTTTTT	0.299		NaN											0	0	0	0.004007	0	12	28				
CRNKL1	51340	broad.mit.edu	37	20	20023021	20023021	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:20023021C>T	uc002wrs.2	-	9	1627	c.1595G>A	c.(1594-1596)CGC>CAC	p.R532H		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	532	HAT 9.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						ATAAATGTAGCGCTTCCAGTG	0.448		NaN											0	0	0	0.01441	0	48	75				
ABHD12	26090	broad.mit.edu	37	20	25297683	25297683	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:25297683C>A	uc002wus.1	-	5	711	c.573_splice	c.e5+1	p.K191_splice	ABHD12_uc002wuq.2_Splice_Site_p.K191_splice|ABHD12_uc002wur.2_Splice_Site_p.K191_splice|ABHD12_uc002wut.1_Splice_Site_p.K191_splice|ABHD12_uc002wuu.1_Splice_Site	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a							integral to membrane	acylglycerol lipase activity			skin(1)	1						CCTGCACTCACCTTGTAAAGC	0.547		NaN											1	0	2.40579e-17	0.00623	2.57171e-17	31	55				
XKR7	343702	broad.mit.edu	37	20	30584822	30584822	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:30584822C>T	uc002wxe.2	+	3	1476	c.1302C>T	c.(1300-1302)GTC>GTT	p.V434V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	434	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTGTGTCTACTACTGTC	0.587		NaN											0	0	0	0.00632	0	25	103				
KIF3B	9371	broad.mit.edu	37	20	30897794	30897794	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:30897794C>T	uc002wxq.2	+	2	381	c.214C>T	c.(214-216)CTG>TTG	p.L72L	KIF3B_uc010ztv.1_Silent_p.L72L|KIF3B_uc010ztw.1_Silent_p.L72L	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	72	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGTTTGAACTGTACGATGA	0.498		NaN											0	0	0	0.010729	0	8	81				
TOMM34	10953	broad.mit.edu	37	20	43580587	43580587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:43580587G>A	uc002xmy.2	-	4	577	c.437C>T	c.(436-438)TCA>TTA	p.S146L	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	146					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				CAAGGGGATTGAGGGCAGCTT	0.527		NaN											0	0	0	0.009718	0	40	172				
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:43927050C>T	uc002xnn.2	-	7	1373	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	437	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657		NaN											0	0	0	0.01441	0	93	64				
TNNC2	7125	broad.mit.edu	37	20	44453014	44453014	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:44453014C>T	uc002xpr.2	-	4	297	c.231G>A	c.(229-231)TTG>TTA	p.L77L		NM_003279	NP_003270	P02585	TNNC2_HUMAN	fast skeletal muscle troponin C	77	EF-hand 2.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(115;0.0122)				CCATCATGACCAAGAACTCCT	0.662		NaN											0	0	0	0.003271	0	31	168				
NCOA3	8202	broad.mit.edu	37	20	46254142	46254142	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:46254142G>A	uc002xtk.2	+	5	479	c.274G>A	c.(274-276)GAT>AAT	p.D92N	NCOA3_uc010ght.1_Missense_Mutation_p.D92N|NCOA3_uc002xtl.2_Missense_Mutation_p.D92N|NCOA3_uc002xtm.2_Missense_Mutation_p.D92N|NCOA3_uc002xtn.2_Missense_Mutation_p.D92N|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	92					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TATTTCCAATGATGATGATGT	0.368		NaN											0	0	0	0.01441	0	54	39				
ZNF217	7764	broad.mit.edu	37	20	52199147	52199147	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:52199147G>A	uc002xwq.3	-	1	490	c.219C>T	c.(217-219)ACC>ACT	p.T73T	ZNF217_uc010gij.1_Silent_p.T65T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	73	C2H2-type 1.				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AATGTGTGAAGGTCTGGCTGC	0.463		NaN											0	0	0	0.009718	0	42	96				
SYNJ1	8867	broad.mit.edu	37	21	34022588	34022588	+	Missense_Mutation	SNP	C	C	G	rs115683257	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:34022588C>G	uc002yqh.2	-	23	3060	c.3060G>C	c.(3058-3060)ATG>ATC	p.M1020I	SYNJ1_uc011ads.1_Missense_Mutation_p.M976I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M981I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M976I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M1020I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	981	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TCTCTAAACTCATTTCTTCTT	0.353		NaN											0	0	0	0.01441	0	39	80				
MORC3	23515	broad.mit.edu	37	21	37744784	37744784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:37744784C>A	uc002yvi.2	+	16	2697	c.2621C>A	c.(2620-2622)ACA>AAA	p.T874K		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	874	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GATGTTTCAACATCAAGTAAC	0.358		NaN											1	0	1.5739e-10	0.004007	1.64785e-10	13	47				
KCNJ15	3772	broad.mit.edu	37	21	39671488	39671488	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:39671488C>G	uc002ywv.2	+	4	607	c.305C>G	c.(304-306)TCA>TGA	p.S102*	KCNJ15_uc002yww.2_Nonsense_Mutation_p.S102*|KCNJ15_uc002ywx.2_Nonsense_Mutation_p.S102*	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	102	Extracellular (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GAGCCCATTTCAAATCATACC	0.493		NaN											0	0	0	0.01441	0	52	69				
ERG	2078	broad.mit.edu	37	21	39755585	39755585	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:39755585C>A	uc010gnw.2	-	12	1496	c.1201G>T	c.(1201-1203)GGG>TGG	p.G401W	ERG_uc002yxa.2_Missense_Mutation_p.G394W|ERG_uc011aek.1_Missense_Mutation_p.G302W|ERG_uc010gnv.2_Missense_Mutation_p.G278W|ERG_uc010gnx.2_Missense_Mutation_p.G377W|ERG_uc011ael.1_Missense_Mutation_p.G401W|ERG_uc002yxb.2_Missense_Mutation_p.G377W	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	401					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				TGGGCGATCCCGTGGAAGTCG	0.582		NaN											1	0	1.2582e-26	0.01441	1.3613e-26	56	98				
BRWD1	54014	broad.mit.edu	37	21	40590434	40590434	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:40590434G>T	uc002yxk.1	-	30	3674	c.3535C>A	c.(3535-3537)CTT>ATT	p.L1179I	BRWD1_uc010goc.1_Intron|BRWD1_uc002yxl.2_Missense_Mutation_p.L1179I|BRWD1_uc010god.1_Missense_Mutation_p.L145I	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1179	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AACTTACCAAGATTCAAAAGT	0.284		NaN											1	0	5.18039e-06	0.00308	5.3299e-06	6	27				
TMPRSS2	7113	broad.mit.edu	37	21	42840425	42840425	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:42840425G>A	uc002yzj.2	-	12	1346	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L	TMPRSS2_uc010gor.2_Silent_p.L441L|TMPRSS2_uc010gos.1_Silent_p.L404L	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	404	Peptidase S1.|Extracellular (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGTCTCAATGAGAAGCACCT	0.542		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								0	0	0	0.007291	0	29	45				
PCNT	5116	broad.mit.edu	37	21	47746353	47746353	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:47746353G>A	uc002zji.3	+	2	224	c.117G>A	c.(115-117)GCG>GCA	p.A39A	PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	39					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAAAGACGGCGAAGAGGAAGG	0.507		NaN											0	0	0	0.009535	0	28	53				
PCNT	5116	broad.mit.edu	37	21	47858172	47858172	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:47858172G>A	uc002zji.3	+	41	9302	c.9195G>A	c.(9193-9195)GAG>GAA	p.E3065E	PCNT_uc002zjj.2_Silent_p.E2868E	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3065	Interaction with NEK2.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGACCCAGGAGAAGCTGGAGC	0.527		NaN											0	0	0	0.006214	0	8	61				
CABIN1	23523	broad.mit.edu	37	22	24479187	24479187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:24479187G>A	uc002zzi.1	+	20	2882	c.2755G>A	c.(2755-2757)GTA>ATA	p.V919I	CABIN1_uc002zzj.1_Missense_Mutation_p.V869I|CABIN1_uc002zzl.1_Missense_Mutation_p.V919I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	919					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACAGGTGCGAGTACTCCAGAA	0.582		NaN											0	0	0	0.009096	0	3	68				
AP1B1	162	broad.mit.edu	37	22	29745219	29745219	+	Missense_Mutation	SNP	G	G	C	rs144812422		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:29745219G>C	uc003afj.2	-	11	1609	c.1425C>G	c.(1423-1425)GAC>GAG	p.D475E	AP1B1_uc003afi.2_Missense_Mutation_p.D475E|AP1B1_uc003afk.2_Missense_Mutation_p.D475E|AP1B1_uc003afl.2_Missense_Mutation_p.D475E|AP1B1_uc011ako.1_Missense_Mutation_p.D28E	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	475					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTGTGCTCTCGTCATGGAAGC	0.612		NaN											0	0	0	0.01441	0	46	110				
NEFH	4744	broad.mit.edu	37	22	29885744	29885744	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:29885744T>C	uc003afo.2	+	4	2186	c.2115T>C	c.(2113-2115)CCT>CCC	p.P705P	NEFH_uc003afp.2_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	711	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|21.				cell death|nervous system development	neurofilament					0						CAAAGTCCCCTGAGAAGGCCA	0.562		NaN											0	0	0	0.000602	0	3	163				
SYN3	8224	broad.mit.edu	37	22	33264982	33264982	+	Missense_Mutation	SNP	C	C	T	rs77543787	by1000genomes	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:33264982C>T	uc003amx.2	-	4	751	c.592G>A	c.(592-594)GTC>ATC	p.V198I	SYN3_uc003amy.2_Missense_Mutation_p.V198I|SYN3_uc003amz.2_Missense_Mutation_p.V197I	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	198	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						AAGTTGTAGACGGAGTAGAGA	0.632		NaN											0	0	0	0.014323	0	19	40				
GGA1	26088	broad.mit.edu	37	22	38014472	38014472	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:38014472G>C	uc003atc.2	+	4	587	c.222G>C	c.(220-222)ATG>ATC	p.M74I	GGA1_uc003atd.2_Missense_Mutation_p.M74I|GGA1_uc003ate.2_Missense_Mutation_p.M74I|GGA1_uc003atf.2_Missense_Mutation_p.M1I	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	74	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					AAACATGCATGAAGAGCTGCG	0.637		NaN											0	0	0	0.014323	0	18	70				
TNRC6B	23112	broad.mit.edu	37	22	40711471	40711471	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:40711471A>T	uc011aor.1	+	20	5074	c.4863A>T	c.(4861-4863)TCA>TCT	p.S1621S	TNRC6B_uc003aym.2_Silent_p.S817S|TNRC6B_uc003ayn.3_Silent_p.S1511S|TNRC6B_uc003ayo.2_Silent_p.S1368S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1621					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CACCCCGATCAGTCAGGGGGT	0.582		NaN											0	0	0	0.01441	0	39	147				
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45198028	45198028	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:45198028C>T	uc003bfd.2	+	9	1185	c.913C>T	c.(913-915)CAC>TAC	p.H305Y	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.H182Y|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.H173Y|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.H87Y|ARHGAP8_uc003bfi.2_Missense_Mutation_p.H51Y|ARHGAP8_uc010gzv.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfj.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfk.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.H87Y	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CGAGCTGGACCACCAGCGGCT	0.597		NaN											0	0	0	0.010729	0	11	72				
GRM7	2917	broad.mit.edu	37	3	7348315	7348315	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:7348315C>G	uc003bqm.2	+	4	1283	c.1009C>G	c.(1009-1011)CAG>GAG	p.Q337E	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.Q337E|GRM7_uc003bql.2_Missense_Mutation_p.Q337E|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	337	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CATCACCATTCAGCCCAAGCG	0.507		NaN											0	0	0	0.008291	0	9	78				
FANCD2	2177	broad.mit.edu	37	3	10138051	10138051	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:10138051C>G	uc003buw.2	+	42	4158	c.4080C>G	c.(4078-4080)CTC>CTG	p.L1360L	FANCD2_uc003bux.1_Silent_p.L1360L|FANCD2_uc003buy.1_Silent_p.L1360L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1360					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCTCTGCTCAAAAAGACCC	0.423		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	48	58				
RAF1	5894	broad.mit.edu	37	3	12653512	12653512	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:12653512A>C	uc003bxf.3	-	3	672	c.257T>G	c.(256-258)CTC>CGC	p.L86R	RAF1_uc011aut.1_5'Flank|RAF1_uc011auu.1_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	86	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	CCTCACCTTGAGTGCTTTCAT	0.488		NaN	T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				0	0	0	0.01441	0	47	172				
FGD5	152273	broad.mit.edu	37	3	14941941	14941941	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:14941941C>G	uc003bzc.2	+	8	3296	c.3186C>G	c.(3184-3186)GCC>GCG	p.A1062A	FGD5_uc011avk.1_Silent_p.A1062A|FGD5_uc003bzd.2_Silent_p.A140A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1062	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						CGGACTCCGCCGAGTACGACA	0.577		NaN											0	0	0	0.008291	0	8	39				
ZNF385D	79750	broad.mit.edu	37	3	21466996	21466996	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:21466996C>G	uc003cce.2	-	6	1248	c.840G>C	c.(838-840)ACG>ACC	p.T280T		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	280	Matrin-type 3.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GTTTAAGTTGCGTTTCCGAGT	0.413		NaN											0	0	0	0.013537	0	9	67				
NGLY1	55768	broad.mit.edu	37	3	25770771	25770771	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:25770771C>G	uc003cdl.2	-	10	1572	c.1464G>C	c.(1462-1464)AAG>AAC	p.K488N	NGLY1_uc010hfg.2_Missense_Mutation_p.K470N|NGLY1_uc003cdm.2_Missense_Mutation_p.K488N|NGLY1_uc011awo.1_Missense_Mutation_p.K446N|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	488	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						GTTTAGAAATCTTCTCATTTT	0.313		NaN											0	0	0	0.010729	0	11	13				
DYNC1LI1	51143	broad.mit.edu	37	3	32578521	32578521	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:32578521G>C	uc003cfb.3	-	6	902	c.814C>G	c.(814-816)CGG>GGG	p.R272G	DYNC1LI1_uc011axh.1_Missense_Mutation_p.R156G	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	272					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						CAAAACTTCCGGATATGTGAC	0.264		NaN											0	0	0	0.004656	0	23	46				
STAC	6769	broad.mit.edu	37	3	36422160	36422160	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:36422160G>A	uc003cgh.1	+	1	64	c.25G>A	c.(25-27)GAG>AAG	p.E9K	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.E9K	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	9					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CAGCCCCCGCGAGGACGGCGT	0.721		NaN											0	0	0	0.001168	0	3	22				
MAP4	4134	broad.mit.edu	37	3	47894824	47894824	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:47894824C>T	uc003csb.2	-	18	3806	c.3280G>A	c.(3280-3282)GAG>AAG	p.E1094K	MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Missense_Mutation_p.E173K|MAP4_uc003crx.2_Missense_Mutation_p.E270K|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.E829K|MAP4_uc003csa.3_Missense_Mutation_p.E760K|MAP4_uc003crz.3_RNA	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1094					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGAGGAGCCTCGCTGCCACCG	0.652		NaN											0	0	0	0.000602	0	5	8				
CCDC71	64925	broad.mit.edu	37	3	49201299	49201299	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:49201299T>A	uc003cwg.3	-	2	481	c.343A>T	c.(343-345)ACA>TCA	p.T115S		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	115										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGAAGCAGTGTGGCCCGACCT	0.602		NaN											0	0	0	0.009718	0	43	64				
MON1A	84315	broad.mit.edu	37	3	49949438	49949438	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:49949438C>T	uc003cxz.2	-	3	551	c.425G>A	c.(424-426)GGC>GAC	p.G142D	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	45							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCCTCCTGGCCCGCACCTGC	0.607		NaN											0	0	0	0.005443	0	21	74				
IFRD2	7866	broad.mit.edu	37	3	50326727	50326727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:50326727C>T	uc011bdp.1	-	8	1165	c.1036G>A	c.(1036-1038)GAA>AAA	p.E346K	IFRD2_uc003czb.2_Missense_Mutation_p.E448K	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	346							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAATGGTTTCACCGGCAGCG	0.607		NaN											0	0	0	0.009096	0	4	10				
RBM15B	29890	broad.mit.edu	37	3	51429743	51429743	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:51429743G>A	uc003dbd.2	+	1	1013	c.913G>A	c.(913-915)GAC>AAC	p.D305N		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	305					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCCCTGGACTACTACGG	0.428		NaN											0	0	0	0.010504	0	18	30				
VPRBP	9730	broad.mit.edu	37	3	51458411	51458411	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:51458411G>A	uc003dbe.1	-	14	2181	c.2013C>T	c.(2011-2013)TTC>TTT	p.F671F	VPRBP_uc003dbf.1_5'UTR	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	671					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CATCATGGATGAAGAACTCAC	0.363		NaN											0	0	0	0.008361	0	24	95				
APPL1	26060	broad.mit.edu	37	3	57282256	57282256	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:57282256T>C	uc003dio.2	+	10	887	c.740T>C	c.(739-741)ATG>ACG	p.M247T	APPL1_uc010hnb.2_Missense_Mutation_p.M247T|APPL1_uc011bey.1_Missense_Mutation_p.M230T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	247	Required for RAB5A binding.|Potential.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATAGAGACCATGCAACAGACA	0.408		NaN											0	0	0	0.009535	0	25	88				
PRICKLE2	166336	broad.mit.edu	37	3	64084988	64084988	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:64084988C>T	uc003dmf.2	-	8	2860	c.2274G>A	c.(2272-2274)CAG>CAA	p.Q758Q		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	758						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAAAGGCATTCTGCAAAGCCA	0.587		NaN											0	0	0	0.008291	0	10	41				
LRIG1	26018	broad.mit.edu	37	3	66449393	66449393	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:66449393C>T	uc003dmx.2	-	10	1246	c.1232_splice	c.e10+1	p.L411_splice	LRIG1_uc011bfu.1_Splice_Site_p.L31_splice|LRIG1_uc003dmw.2_Splice_Site_p.L77_splice|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Splice_Site_p.L435_splice	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like							integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGATACTCACAGGTGCTCCA	0.498		NaN											0	0	0	0.013537	0	9	25				
C3orf64	285203	broad.mit.edu	37	3	69027546	69027546	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:69027546T>C	uc003dnl.2	-	17	1780	c.1375A>G	c.(1375-1377)AGG>GGG	p.R459G	C3orf64_uc003dnj.2_Missense_Mutation_p.R138G|C3orf64_uc003dnk.2_Missense_Mutation_p.R375G|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	459						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		CCTCTCAGCCTGGCCAAGTCT	0.428		NaN											0	0	0	0.005443	0	24	100				
PDZRN3	23024	broad.mit.edu	37	3	73432821	73432821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:73432821C>T	uc003dpl.1	-	10	2992	c.2896G>A	c.(2896-2898)GAG>AAG	p.E966K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E623K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E664K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E683K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E686K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	966							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATCTTCATCTCGCTCACCGCG	0.667		NaN											0	0	0	0.010818	0	27	138				
ROBO1	6091	broad.mit.edu	37	3	78649289	78649289	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:78649289C>T	uc003dqe.2	-	30	5123	c.4915G>A	c.(4915-4917)GGA>AGA	p.G1639R	ROBO1_uc003dqb.2_Missense_Mutation_p.G1600R|ROBO1_uc003dqc.2_Missense_Mutation_p.G1539R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1594R|ROBO1_uc010hoh.2_Missense_Mutation_p.G831R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1639	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTATCTTCTCCTCTTTCATAT	0.363		NaN											0	0	0	0.000602	0	3	17				
CRYBG3	131544	broad.mit.edu	37	3	97618083	97618083	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:97618083C>T	uc003drx.2	+	11	2167	c.2103C>T	c.(2101-2103)ATC>ATT	p.I701I		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						ATAATATAATCATGTCGATAC	0.363		NaN											0	0	0	0.01441	0	41	43				
PVRL3	25945	broad.mit.edu	37	3	110830952	110830952	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:110830952T>C	uc003dxt.1	+	2	236	c.236T>C	c.(235-237)TTA>TCA	p.L79S	PVRL3_uc003dxu.1_Missense_Mutation_p.L56S	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	79	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TTAAAGTGTTTAATTGAAGTA	0.388		NaN											0	0	0	0.010729	0	9	43				
TMPRSS7	344805	broad.mit.edu	37	3	111794169	111794169	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:111794169C>G	uc010hqb.2	+	13	1577	c.1407C>G	c.(1405-1407)ACC>ACG	p.T469T	TMPRSS7_uc011bhr.1_Silent_p.T324T	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	595	Extracellular (Potential).|LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						CCACCAAAGCCTGCAGCAGGA	0.532		NaN											0	0	0	0.013726	0	32	131				
KALRN	8997	broad.mit.edu	37	3	124438234	124438234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:124438234G>A	uc003ehg.2	+	60	9005	c.8878G>A	c.(8878-8880)GAA>AAA	p.E2960K	KALRN_uc003ehk.2_Missense_Mutation_p.E1263K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2959					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATGCTTCATAGAACGTCGCAA	0.562		NaN											0	0	0	0.003954	0	25	105				
ALG1L	200810	broad.mit.edu	37	3	125652507	125652507	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:125652507G>A	uc003eig.1	-	2	175	c.11C>T	c.(10-12)TCG>TTG	p.S4L		NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	4							transferase activity, transferring glycosyl groups				0						CATGAAGGCCGACCGCTCCAT	0.637		NaN											0	0	0	0.00245	0	13	46				
RUVBL1	8607	broad.mit.edu	37	3	127842556	127842556	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:127842556C>G	uc003ekh.2	-	1	116	c.12G>C	c.(10-12)GAG>GAC	p.E4D	RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E4D	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	4					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		TCTTCACCTCCTCAATCTTCA	0.612		NaN											0	0	0	0.014323	0	17	62				
CPNE4	131034	broad.mit.edu	37	3	131415421	131415421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:131415421C>G	uc003eok.2	-	5	907	c.472G>C	c.(472-474)GAG>CAG	p.E158Q	CPNE4_uc011blq.1_Missense_Mutation_p.E176Q|CPNE4_uc003eol.2_Missense_Mutation_p.E176Q|CPNE4_uc003eom.2_Missense_Mutation_p.E158Q	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	158	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AATGCAAGCTCAACATAGTCG	0.408		NaN											0	0	0	0.01441	0	60	51				
DNAJC13	23317	broad.mit.edu	37	3	132211337	132211337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:132211337C>T	uc003eor.2	+	33	3768	c.3703C>T	c.(3703-3705)CAG>TAG	p.Q1235*		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1235							heat shock protein binding			ovary(1)|breast(1)	2						AGCACTTTATCAGTATTGCCC	0.403		NaN											0	0	0	0.01441	0	147	176				
C3orf36	80111	broad.mit.edu	37	3	133647173	133647173	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:133647173C>G	uc003epz.1	-	1	1484	c.475G>C	c.(475-477)GGC>CGC	p.G159R		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	159										ovary(1)	1						CCCGCTCTGCCTTGAGACTGA	0.517		NaN											0	0	0	0.006122	0	16	83				
SLC25A36	55186	broad.mit.edu	37	3	140675471	140675471	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:140675471G>A	uc003etr.2	+	2	379	c.144G>A	c.(142-144)CTG>CTA	p.L48L	SLC25A36_uc003etp.2_Silent_p.L48L|SLC25A36_uc003ets.2_Silent_p.L48L|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Silent_p.L48L	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	48	Helical; Name=2; (Potential).|Solcar 1.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						AAGTTCAGCTGAACACCATGG	0.453		NaN											0	0	0	0.00333	0	22	133				
PPM1L	151742	broad.mit.edu	37	3	160474178	160474178	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:160474178C>T	uc003fdr.2	+	1	183	c.82C>T	c.(82-84)CTG>TTG	p.L28L		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	28	Helical; (Potential).				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACGCTTTTCCTGCTGTGCAT	0.522		NaN											0	0	0	0.003163	0	15	89				
WDR49	151790	broad.mit.edu	37	3	167277882	167277882	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:167277882A>G	uc003fev.1	-	5	927	c.621T>C	c.(619-621)CTT>CTC	p.L207L	WDR49_uc003feu.1_Silent_p.L32L|WDR49_uc011bpd.1_Silent_p.L260L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	207	WD 4.									large_intestine(1)|ovary(1)|skin(1)	3						TGCCAGTCAAAAGCCGAGTCT	0.453		NaN											0	0	0	0.010818	0	25	150				
SLC7A14	57709	broad.mit.edu	37	3	170198742	170198742	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:170198742G>A	uc003fgz.2	-	7	1645	c.1329C>T	c.(1327-1329)TTC>TTT	p.F443F	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	443						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTCAGACAAGAACTTGACAA	0.512		NaN											0	0	0	0.01441	0	49	55				
CCDC39	339829	broad.mit.edu	37	3	180397147	180397147	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:180397147C>T	uc010hxe.2	-	1	137	c.22G>A	c.(22-24)GAG>AAG	p.E8K	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	8					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGTGCAGCTCAGCCAGGAAT	0.557		NaN											0	0	0	0.01441	0	140	194				
YEATS2	55689	broad.mit.edu	37	3	183432930	183432930	+	Splice_Site	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:183432930A>T	uc003fly.2	+	2	177	c.-18_splice	c.e2-2			NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGCTTCACAGTGAAGAACT	0.358		NaN											0	0	0	0.007835	0	40	39				
C3orf21	152002	broad.mit.edu	37	3	194790762	194790762	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:194790762G>A	uc003fum.3	-	4	972	c.864C>T	c.(862-864)TTC>TTT	p.F288F	C3orf21_uc003ful.2_Silent_p.F85F|C3orf21_uc003fuk.2_Silent_p.F82F	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	288						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CCCCGCTGTTGAAGCCCGGCA	0.677		NaN											0	0	0	0.004878	0	28	131				
GAK	2580	broad.mit.edu	37	4	875739	875739	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:875739G>A	uc003gbm.3	-	15	1816	c.1617C>T	c.(1615-1617)TTC>TTT	p.F539F	GAK_uc003gbn.3_Silent_p.F460F|GAK_uc010ibk.1_Silent_p.F433F|GAK_uc003gbl.3_Silent_p.F403F	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	539	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCTTCATGCTGAACATGTACA	0.652		NaN											0	0	0	0.00499	0	14	10				
GAK	2580	broad.mit.edu	37	4	875769	875769	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:875769G>C	uc003gbm.3	-	15	1786	c.1587C>G	c.(1585-1587)TTC>TTG	p.F529L	GAK_uc003gbn.3_Missense_Mutation_p.F450L|GAK_uc010ibk.1_Missense_Mutation_p.F423L|GAK_uc003gbl.3_Missense_Mutation_p.F393L	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	529	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CCGCGGTGCTGAAGAGACGGC	0.642		NaN											0	0	0	0.004007	0	12	8				
KIAA1530	57654	broad.mit.edu	37	4	1377693	1377693	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:1377693C>T	uc003gde.3	+	13	2448	c.2001C>T	c.(1999-2001)ACC>ACT	p.T667T	KIAA1530_uc010ibv.2_Silent_p.T218T	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	667											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			AGGCTGATACCGCCCGCGCTC	0.642		NaN											0	0	0	0.004007	0	14	67				
MFSD10	10227	broad.mit.edu	37	4	2935298	2935298	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:2935298G>A	uc003gfw.2	-	2	578	c.264C>T	c.(262-264)TTC>TTT	p.F88F	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.F88F|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.F88F|MFSD10_uc003ggb.1_Silent_p.F88F|MFSD10_uc003ggc.2_Silent_p.F88F|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	88	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCATACCTCCGAACAGGACAC	0.632		NaN											0	0	0	0.004007	0	15	50				
JAKMIP1	152789	broad.mit.edu	37	4	6107652	6107652	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:6107652G>A	uc003giu.3	-	3	448	c.172C>T	c.(172-174)CGC>TGC	p.R58C	JAKMIP1_uc010idb.1_Missense_Mutation_p.R58C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R58C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R58C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R58C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	58	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCCTGCTCGCGCTCCAGCTTC	0.562		NaN											0	0	0	0.003755	0	26	45				
SLAIN2	57606	broad.mit.edu	37	4	48422313	48422313	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:48422313C>T	uc003gya.3	+	7	1676	c.1532C>T	c.(1531-1533)TCA>TTA	p.S511L		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	511						centrosome					0						AGCACAGTCTCAGCAAATCCT	0.522		NaN											0	0	0	0.01441	0	57	103				
FRYL	285527	broad.mit.edu	37	4	48553580	48553580	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:48553580C>T	uc003gyh.1	-	37	5056	c.4451G>A	c.(4450-4452)AGC>AAC	p.S1484N	FRYL_uc003gyk.2_Missense_Mutation_p.S1484N|FRYL_uc003gyg.1_Missense_Mutation_p.S180N|FRYL_uc003gyi.1_Missense_Mutation_p.S373N	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CATTGTATTGCTACTGGAAGT	0.358		NaN											0	0	0	0.008291	0	10	58				
KIT	3815	broad.mit.edu	37	4	55524222	55524222	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:55524222T>G	uc010igr.2	+	1	128	c.41T>G	c.(40-42)CTG>CGG	p.L14R	KIT_uc010igs.2_Missense_Mutation_p.L14R	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	14					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTGCGTTCTGCTCCTACTG	0.667		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				0	0	0	0.004656	0	24	31				
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:57266984G>C	uc003hbr.2	-	8	1182	c.980C>G	c.(979-981)TCT>TGT	p.S327C		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327		Magnesium (By similarity).			glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	AGGCGTAGCAGATTCTGGAAC	0.458		NaN											0	0	0	0.004878	0	36	121				
UGT2A1	10941	broad.mit.edu	37	4	70513304	70513304	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:70513304C>A	uc003hem.3	-	1	122	c.59G>T	c.(58-60)GGT>GTT	p.G20V	UGT2A1_uc011caq.1_Missense_Mutation_p.G20V|UGT2A1_uc010ihu.2_Missense_Mutation_p.G20V|UGT2A1_uc010iht.2_Missense_Mutation_p.G20V	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	20					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						AACATTCCCACCAAGAGTGGT	0.383		NaN											1	0	0.00448238	0.004482	0.00455262	7	12				
CDKL2	8999	broad.mit.edu	37	4	76529105	76529105	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:76529105T>C	uc003hiq.2	-	6	1216	c.691A>G	c.(691-693)AAA>GAA	p.K231E	CDKL2_uc011cbp.1_Missense_Mutation_p.K231E|CDKL2_uc010iix.1_RNA	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	231	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGGATTTTTATTAAAAAGC	0.388		NaN											0	0	0	0.010729	0	10	49				
STBD1	8987	broad.mit.edu	37	4	77230498	77230498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:77230498C>T	uc003hka.2	+	2	668	c.422C>T	c.(421-423)TCA>TTA	p.S141L	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_5'UTR	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	141	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			TCTGAAGTTTCAAGAAATGAA	0.428		NaN											0	0	0	0.00308	0	7	32				
FRAS1	80144	broad.mit.edu	37	4	79295384	79295384	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:79295384C>T	uc003hlb.2	+	25	3570	c.3130C>T	c.(3130-3132)CAT>TAT	p.H1044Y	FRAS1_uc003hkw.2_Missense_Mutation_p.H1044Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1043	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTTTGCAGATCATGCAAAGCA	0.507		NaN											0	0	0	0.00623	0	28	111				
SEC31A	22872	broad.mit.edu	37	4	83740266	83740266	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:83740266G>C	uc003hnf.2	-	27	3788	c.3624C>G	c.(3622-3624)CTC>CTG	p.L1208L	SEC31A_uc003hnd.2_Silent_p.L377L|SEC31A_uc003hne.2_Silent_p.L957L|SEC31A_uc011ccl.1_Silent_p.L1154L|SEC31A_uc003hnl.2_Silent_p.L1055L|SEC31A_uc003hng.2_Silent_p.L1193L|SEC31A_uc003hnh.2_Silent_p.L1208L|SEC31A_uc003hni.2_Silent_p.L1094L|SEC31A_uc003hnj.2_Silent_p.L1169L|SEC31A_uc011ccm.1_Silent_p.L1188L|SEC31A_uc011ccn.1_Silent_p.L1193L|SEC31A_uc003hnk.2_Silent_p.L1169L|SEC31A_uc003hnm.2_Silent_p.L1208L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1208					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GAACAACTTTGAGAACTGGCA	0.418		NaN											0	0	0	0.006122	0	17	30				
COL25A1	84570	broad.mit.edu	37	4	109790268	109790268	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:109790268G>A	uc003hze.1	-	19	1590	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G	COL25A1_uc003hzg.2_Silent_p.G353G|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.G134G	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	353	Extracellular (Potential).|Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTGGTAAGCCTGGTTCTC	0.244		NaN											0	0	0	0.001984	0	6	33				
TIFA	92610	broad.mit.edu	37	4	113199085	113199085	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:113199085T>C	uc003ial.2	-	2	770	c.488A>G	c.(487-489)TAT>TGT	p.Y163C		NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with a	163							protein binding			breast(1)	1		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ATAAGTGCCATACTCCGGTAT	0.428		NaN											0	0	0	0.004482	0	9	28				
ANK2	287	broad.mit.edu	37	4	114158209	114158209	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:114158209G>C	uc003ibe.3	+	6	650	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	ANK2_uc003ibd.3_Missense_Mutation_p.E163Q|ANK2_uc003ibf.3_Missense_Mutation_p.E184Q|ANK2_uc003ibc.2_Missense_Mutation_p.E160Q|ANK2_uc011cgb.1_Missense_Mutation_p.E199Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	184	ANK 5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCCTCTTGGAGAATGACAC	0.498		NaN											0	0	0	0.01441	0	44	176				
FAT4	79633	broad.mit.edu	37	4	126412206	126412206	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:126412206C>A	uc003ifj.3	+	17	14229	c.14229C>A	c.(14227-14229)TTC>TTA	p.F4743L	FAT4_uc011cgp.1_Missense_Mutation_p.F2984L|FAT4_uc003ifi.1_Missense_Mutation_p.F2220L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4743	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGGCATTTTCAACTATGCCA	0.498		NaN											1	0	3.27435e-08	0.00245	3.39827e-08	13	69				
PLK4	10733	broad.mit.edu	37	4	128804637	128804637	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:128804637T>C	uc003ifo.2	+	4	511	c.266T>C	c.(265-267)TTA>TCA	p.L89S	PLK4_uc011cgs.1_Missense_Mutation_p.L57S|PLK4_uc011cgt.1_Missense_Mutation_p.L48S	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	89	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						TATCTGGTATTAGAAATGTGC	0.308		NaN											0	0	0	0.014323	0	18	27				
ARFIP1	27236	broad.mit.edu	37	4	153831239	153831239	+	Silent	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:153831239G>T	uc003imz.2	+	9	1266	c.990G>T	c.(988-990)CTG>CTT	p.L330L	ARFIP1_uc003inb.2_Silent_p.L298L|ARFIP1_uc003ina.2_Silent_p.L298L|ARFIP1_uc003inc.2_Silent_p.L330L|ARFIP1_uc011cij.1_Silent_p.L150L	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	330	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)					ACAATCAGCTGGTCCTTTTCC	0.403		NaN											1	0	1.4051e-37	0.01441	1.53186e-37	68	104				
KIAA0922	23240	broad.mit.edu	37	4	154506049	154506049	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:154506049C>T	uc003inm.3	+	12	1172	c.1120C>T	c.(1120-1122)CTA>TTA	p.L374L	KIAA0922_uc010ipp.2_Silent_p.L375L|KIAA0922_uc010ipq.2_Silent_p.L227L|KIAA0922_uc010ips.1_5'UTR	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	374	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CACTCCAACACTAAAAGCATG	0.393		NaN											0	0	0	0.010818	0	25	43				
RNF175	285533	broad.mit.edu	37	4	154669807	154669807	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:154669807C>G	uc003int.2	-	3	609	c.236G>C	c.(235-237)CGA>CCA	p.R79P	RNF175_uc003inu.1_Missense_Mutation_p.D3H	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	79						integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ATTGTAGGATCGGCCATGCCT	0.532		NaN											0	0	0	0.000602	0	4	16				
DCHS2	54798	broad.mit.edu	37	4	155158295	155158295	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:155158295G>C	uc003inw.2	-	25	6144	c.6144C>G	c.(6142-6144)ATC>ATG	p.I2048M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2048	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACGGGACTGATAGTAAATA	0.383		NaN											0	0	0	0.00499	0	14	17				
FGG	2266	broad.mit.edu	37	4	155533181	155533181	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:155533181G>A	uc003ioj.2	-	3	437	c.296C>T	c.(295-297)TCA>TTA	p.S99L	FGG_uc003iog.2_Missense_Mutation_p.S99L|FGG_uc003ioh.2_Missense_Mutation_p.S99L|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.S99L	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	99					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGGTTTTGATGATTCATCAGG	0.308		NaN											0	0	0	0.000602	0	4	21				
GUCY1B3	2983	broad.mit.edu	37	4	156723650	156723650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:156723650G>A	uc003ipc.2	+	10	1499	c.1332G>A	c.(1330-1332)ATG>ATA	p.M444I	GUCY1B3_uc011cio.1_Missense_Mutation_p.M466I|GUCY1B3_uc011cip.1_Missense_Mutation_p.M424I|GUCY1B3_uc003ipd.2_Missense_Mutation_p.M372I|GUCY1B3_uc010iqf.2_Missense_Mutation_p.M411I|GUCY1B3_uc010iqg.2_Missense_Mutation_p.M415I|GUCY1B3_uc011ciq.1_Missense_Mutation_p.M372I	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	444	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGGAGCCATGAAGATCGTCA	0.453		NaN											0	0	0	0.004672	0	3	25				
DDX60L	91351	broad.mit.edu	37	4	169374324	169374324	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:169374324C>G	uc003irq.3	-	8	1168	c.947G>C	c.(946-948)CGA>CCA	p.R316P	DDX60L_uc003irr.1_Missense_Mutation_p.R316P|DDX60L_uc003irs.1_Missense_Mutation_p.R43P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	316							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTGATGACTCGAGAACAAGC	0.408		NaN											0	0	0	0.006999	0	35	39				
C4orf41	60684	broad.mit.edu	37	4	184607795	184607795	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:184607795C>T	uc003ivx.2	+	18	1963	c.1787C>T	c.(1786-1788)GCC>GTC	p.A596V	C4orf41_uc003ivw.2_Missense_Mutation_p.A596V|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Missense_Mutation_p.A202V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	596											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		AAGTTTCATGCCCCAAGTTTT	0.413		NaN											0	0	0	0.01441	0	75	151				
F11	2160	broad.mit.edu	37	4	187206844	187206844	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:187206844G>C	uc003iza.1	+	12	1690	c.1357G>C	c.(1357-1359)GAA>CAA	p.E453Q		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	453	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAATCAATCTGAAATAAAAGA	0.348		NaN											0	0	0	0.001855	0	10	44				
ZFP42	132625	broad.mit.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:188924151G>C	uc003izg.1	+	3	435	c.190G>C	c.(190-192)GGA>CGA	p.G64R	ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	64					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507		NaN											0	0	0	0.00308	0	6	47				
LRRC14B	389257	broad.mit.edu	37	5	195402	195402	+	Silent	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:195402T>G	uc003jal.1	+	2	1507	c.1479T>G	c.(1477-1479)GCT>GCG	p.A493A		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	493										skin(1)	1						AGCTTGGTGCTTTCTTGCTGC	0.483		NaN											0	0	0	0.001855	0	14	123				
KIAA0947	23379	broad.mit.edu	37	5	5464730	5464730	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:5464730C>T	uc003jdm.3	+	13	5505	c.5283C>T	c.(5281-5283)GCC>GCT	p.A1761A		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1761										ovary(1)|central_nervous_system(1)	2						AGTTATCTGCCAGGGCCCGGA	0.547		NaN											0	0	0	0.006122	0	16	20				
TARS	6897	broad.mit.edu	37	5	33459811	33459811	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:33459811G>A	uc003jhy.2	+	11	1390	c.1095G>A	c.(1093-1095)AGG>AGA	p.R365R	TARS_uc011cob.1_Silent_p.R353R|TARS_uc010iup.1_Silent_p.R306R|TARS_uc011coc.1_Silent_p.R386R|TARS_uc003jhz.2_Silent_p.R261R|TARS_uc011cod.1_Silent_p.R244R	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	365					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GCGAATATAGGAAAAGAGGAT	0.398		NaN											0	0	0	0.01441	0	69	57				
NUP155	9631	broad.mit.edu	37	5	37324164	37324164	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:37324164C>G	uc003jku.1	-	20	2255	c.2137G>C	c.(2137-2139)GAA>CAA	p.E713Q	NUP155_uc003jkt.1_Missense_Mutation_p.E654Q|NUP155_uc010iuz.1_Missense_Mutation_p.E713Q	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	713					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTTTAGTTCTTGTAGCACT	0.358		NaN											0	0	0	0.01441	0	54	59				
EGFLAM	133584	broad.mit.edu	37	5	38418241	38418241	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:38418241G>C	uc003jlc.1	+	12	1892	c.1568G>C	c.(1567-1569)AGA>ACA	p.R523T	EGFLAM_uc003jlb.1_Missense_Mutation_p.R523T|EGFLAM_uc003jle.1_Missense_Mutation_p.R289T|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	523	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TGGTTGGTTAGAGCAACAGGG	0.512		NaN											0	0	0	0.005443	0	26	172				
OSMR	9180	broad.mit.edu	37	5	38869153	38869153	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:38869153C>G	uc003jln.1	+	2	374	c.7C>G	c.(7-9)CTA>GTA	p.L3V	OSMR_uc003jlm.1_Missense_Mutation_p.L3V	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	3					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					ACTGATGGCTCTATTTGCAGT	0.318		NaN											0	0	0	0.01441	0	67	57				
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:45353208C>G	uc003jok.2	-	5	1396	c.1371G>C	c.(1369-1371)CTG>CTC	p.L457L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	457	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTACCTCTCTCAGAGGATCAT	0.343		NaN											0	0	0	0.004482	0	7	71				
IPO11	51194	broad.mit.edu	37	5	61733234	61733234	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:61733234C>T	uc003jtc.2	+	2	318	c.128C>T	c.(127-129)TCA>TTA	p.S43L	IPO11_uc011cqr.1_Missense_Mutation_p.S83L|IPO11_uc003jtb.1_Missense_Mutation_p.S43L	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	43	Importin N-terminal.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGTTTCTATTCAGTGTTGCTG	0.378		NaN											0	0	0	0.010504	0	19	25				
POLK	51426	broad.mit.edu	37	5	74892219	74892219	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:74892219C>G	uc003kdw.2	+	13	1797	c.1701C>G	c.(1699-1701)TTC>TTG	p.F567L	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.F369L|POLK_uc003kec.2_Missense_Mutation_p.F477L|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.F477L	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	567					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGAAGAGTTTCTTTGATAAAA	0.373		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.001855	0	13	11				
PAPD4	167153	broad.mit.edu	37	5	78915520	78915520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:78915520C>T	uc010jae.1	+	3	467	c.49C>T	c.(49-51)CAA>TAA	p.Q17*	PAPD4_uc003kgb.2_Nonsense_Mutation_p.Q17*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.Q17*|PAPD4_uc003kga.2_Nonsense_Mutation_p.Q17*|PAPD4_uc003kfz.2_Nonsense_Mutation_p.Q17*	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	17					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCAAATCATCAACAACATAA	0.393		NaN											0	0	0	0.003954	0	20	28				
MTX3	345778	broad.mit.edu	37	5	79279583	79279583	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:79279583G>A	uc010jag.2	-	9	890	c.863C>T	c.(862-864)CCT>CTT	p.P288L	MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P227L	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	288					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTTCCGAGGAGGAAGCTGAGG	0.468		NaN											0	0	0	0.00874	0	32	51				
MTX3	345778	broad.mit.edu	37	5	79279590	79279590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:79279590G>A	uc010jag.2	-	9	883	c.856C>T	c.(856-858)CAG>TAG	p.Q286*	MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Nonsense_Mutation_p.Q225*	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	286					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGAGGAAGCTGAGGGCTTTGG	0.468		NaN											0	0	0	0.01441	0	34	50				
FAM81B	153643	broad.mit.edu	37	5	94772582	94772582	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:94772582C>T	uc003kla.1	+	7	911	c.865C>T	c.(865-867)CGC>TGC	p.R289C	FAM81B_uc010jbe.1_Missense_Mutation_p.R85C	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	289										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGGGGATTATCGCCACGAAAT	0.398		NaN											0	0	0	0.004007	0	13	39				
FBN2	2201	broad.mit.edu	37	5	127622542	127622542	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:127622542C>G	uc003kuu.2	-	55	7320	c.6881_splice	c.e55-1	p.D2294_splice		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATCCAGATCTAGAACaaaa	0.378		NaN											0	0	0	0.001855	0	12	23				
RAPGEF6	51735	broad.mit.edu	37	5	130840372	130840372	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:130840372C>T	uc003kvn.1	-	11	1407	c.1201G>A	c.(1201-1203)GAG>AAG	p.E401K	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E451K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E401K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E118K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E401K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E401K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	401					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCCGATGCTCATGTACCATA	0.383		NaN											0	0	0	0.01441	0	41	45				
SLC4A9	83697	broad.mit.edu	37	5	139741424	139741424	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:139741424T>A	uc003lfm.2	+	4	644	c.609T>A	c.(607-609)AAT>AAA	p.N203K	SLC4A9_uc003lfj.2_Missense_Mutation_p.N179K|SLC4A9_uc011czg.1_Missense_Mutation_p.N179K|SLC4A9_uc003lfl.2_Missense_Mutation_p.N179K|SLC4A9_uc003lfk.2_Missense_Mutation_p.N179K	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	203	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGACAATGAGGAAGCCC	0.353		NaN											0	0	0	0.01441	0	61	49				
PCDHGA4	56111	broad.mit.edu	37	5	140734781	140734781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:140734781C>G	uc003ljq.1	+	1	14	c.14C>G	c.(13-15)CCT>CGT	p.P5R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.P5R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	5					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGCCTCCTGCTCGCCCA	0.602		NaN											0	0	0	0.00278	0	22	28				
ARAP3	64411	broad.mit.edu	37	5	141033813	141033813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:141033813G>A	uc003llm.2	-	33	4417	c.4339C>T	c.(4339-4341)CAA>TAA	p.Q1447*	ARAP3_uc003lll.2_Nonsense_Mutation_p.Q398*|ARAP3_uc011dbe.1_Nonsense_Mutation_p.Q1096*|ARAP3_uc003lln.2_Nonsense_Mutation_p.Q1278*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1447					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						AGAAAGGGTTGATCCAATGAC	0.602		NaN											0	0	0	0.005524	0	36	44				
FOXC1	2296	broad.mit.edu	37	6	1612341	1612341	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:1612341G>A	uc003mtp.2	+	1	1661	c.1661G>A	c.(1660-1662)TGA>TAA	p.*554*		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	554					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGCAAGTTTTGACACACCCTC	0.448		NaN											0	0	0	0.012319	0	18	86				
SERPINB9	5272	broad.mit.edu	37	6	2900817	2900817	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:2900817G>T	uc003mug.2	-	2	150	c.29C>A	c.(28-30)ACT>AAT	p.T10N	uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.T10N	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	10					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TATGGCAAAAGTACCACTTGC	0.458		NaN											1	0	8.06247e-56	0.01441	8.83032e-56	128	234				
RREB1	6239	broad.mit.edu	37	6	7247274	7247274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:7247274G>A	uc003mxc.2	+	11	4816	c.4426G>A	c.(4426-4428)GAC>AAC	p.D1476N	RREB1_uc003mxb.2_Missense_Mutation_p.D1531N|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1476					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGCCCCTCCGACGGGGAGAG	0.672		NaN											0	0	0	0.004672	0	3	25				
PAK1IP1	55003	broad.mit.edu	37	6	10697685	10697685	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:10697685G>A	uc003mzg.2	+	2	244	c.213G>A	c.(211-213)AAG>AAA	p.K71K	C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	71	WD 1.				negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ACATGAAAAAGAAGATTGAGC	0.393		NaN											0	0	0	0.004482	0	7	106				
KIF13A	63971	broad.mit.edu	37	6	17809073	17809073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:17809073C>T	uc003ncg.3	-	18	2194	c.2089G>A	c.(2089-2091)GAG>AAG	p.E697K	KIF13A_uc003ncf.2_Missense_Mutation_p.E697K|KIF13A_uc003nch.3_Missense_Mutation_p.E697K|KIF13A_uc003nci.3_Missense_Mutation_p.E697K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	697	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCATTTCCTCAGCCAGGAAG	0.488		NaN											0	0	0	0.004656	0	23	35				
PRSS16	10279	broad.mit.edu	37	6	27222869	27222869	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:27222869G>A	uc003nja.2	+	11	1447	c.1435G>A	c.(1435-1437)GAG>AAG	p.E479K	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.E222K|PRSS16_uc003njd.2_RNA	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	479					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						CATGGCACCTGAGAGGCCCTC	0.507		NaN											0	0	0	0.01441	0	126	145				
C6orf27	80737	broad.mit.edu	37	6	31737803	31737803	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:31737803G>A	uc011dog.1	-	8	1413	c.1175C>T	c.(1174-1176)CCT>CTT	p.P392L	C6orf27_uc003nxd.2_Missense_Mutation_p.P67L|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	392						extracellular region				ovary(3)	3						GCACATCTCAGGCTCGTCTCC	0.622		NaN											0	0	0	0.004289	0	32	80				
ATF6B	1388	broad.mit.edu	37	6	32086844	32086844	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:32086844T>G	uc003nzn.2	-	10	1074	c.1041A>C	c.(1039-1041)AAA>AAC	p.K347N	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.K344N|ATF6B_uc003nzp.1_Missense_Mutation_p.K36N	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	347	Cytoplasmic (Potential).|Basic motif.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCAGATACTCTTTCTTCTTTC	0.607		NaN											0	0	0	0.010818	0	24	34				
NOTCH4	4855	broad.mit.edu	37	6	32166323	32166323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:32166323C>T	uc003obb.2	-	26	4770	c.4631G>A	c.(4630-4632)GGC>GAC	p.G1544D	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.G204D|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1544	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGAGGGTGGGCCTGTTTCTTC	0.572		NaN											0	0	0	0.007413	0	15	43				
SYNGAP1	8831	broad.mit.edu	37	6	33400506	33400506	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:33400506G>A	uc011dri.1	+	5	627	c.432G>A	c.(430-432)ACG>ACA	p.T144T	SYNGAP1_uc003oeo.1_Silent_p.T129T|SYNGAP1_uc010juy.2_Silent_p.T129T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	144					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TCAAACGAACGAAGTCACAAC	0.582		NaN											0	0	0	0.004656	0	24	61				
DEF6	50619	broad.mit.edu	37	6	35288972	35288972	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:35288972C>T	uc003okk.2	+	11	1720	c.1681C>T	c.(1681-1683)CCG>TCG	p.P561S	DEF6_uc010jvs.2_Missense_Mutation_p.P536S|DEF6_uc010jvt.2_Missense_Mutation_p.P306S	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	561						cytoplasm|nucleus|plasma membrane					0						AGATAAGCGTCCGGTCACCAG	0.627		NaN											0	0	0	0.01441	0	189	298				
TULP1	7287	broad.mit.edu	37	6	35478696	35478696	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:35478696C>G	uc003okv.3	-	5	453	c.441G>C	c.(439-441)CTG>CTC	p.L147L	TULP1_uc003okw.3_Silent_p.L94L	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	147					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						TCTTCTCTCTCAGGGGCTTCT	0.413		NaN											0	0	0	0.013114	0	41	104				
STK38	11329	broad.mit.edu	37	6	36489566	36489566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:36489566C>G	uc003omg.2	-	4	923	c.335G>C	c.(334-336)GGA>GCA	p.G112A	STK38_uc003omh.2_Missense_Mutation_p.G112A|STK38_uc003omi.2_Missense_Mutation_p.G112A	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	112	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						ATACACATGTCCCGTATCTTT	0.358		NaN											0	0	0	0.010818	0	31	102				
C6orf89	221477	broad.mit.edu	37	6	36887410	36887410	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:36887410C>T	uc003omx.2	+	8	1166	c.882C>T	c.(880-882)CTC>CTT	p.L294L	C6orf89_uc003omv.2_Silent_p.L188L|C6orf89_uc003omw.2_Silent_p.L301L|C6orf89_uc011dtr.1_Silent_p.L188L|C6orf89_uc003omy.2_Silent_p.L128L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	294						integral to membrane				ovary(1)	1						TGTTGCAGCTCATCCCTCCCT	0.532		NaN											0	0	0	0.01441	0	72	79				
KIF6	221458	broad.mit.edu	37	6	39313505	39313505	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:39313505C>G	uc003oot.2	-	21	2387	c.2292G>C	c.(2290-2292)CAG>CAC	p.Q764H	KIF6_uc003oos.2_Missense_Mutation_p.Q215H|KIF6_uc010jwz.1_Missense_Mutation_p.Q139H|KIF6_uc010jxa.1_Missense_Mutation_p.Q538H|KIF6_uc011dua.1_Missense_Mutation_p.Q747H|KIF6_uc010jxb.1_Missense_Mutation_p.Q708H	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	764					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGGTGCTGCTCTGTTTCTGGC	0.557		NaN											0	0	0	0.012213	0	27	37				
DAAM2	23500	broad.mit.edu	37	6	39846247	39846247	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:39846247G>A	uc003oow.2	+	13	1584	c.1428G>A	c.(1426-1428)AAG>AAA	p.K476K	DAAM2_uc010jxc.2_Silent_p.K476K|DAAM2_uc003oox.2_Silent_p.K476K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	476	Potential.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATTGGAGAAGGAAGAGATGA	0.587		NaN											0	0	0	0.010729	0	10	13				
NFYA	4800	broad.mit.edu	37	6	41057404	41057404	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:41057404C>T	uc003opo.2	+	5	574	c.396C>T	c.(394-396)ATC>ATT	p.I132I	NFYA_uc003opp.2_Silent_p.I103I|NFYA_uc003opq.2_Silent_p.I103I	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	132	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCAGCAGATCATCATCCAGC	0.552		NaN											0	0	0	0.01441	0	54	75				
TMEM63B	55362	broad.mit.edu	37	6	44119725	44119725	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:44119725G>A	uc003owr.2	+	19	1880	c.1816G>A	c.(1816-1818)GAG>AAG	p.E606K	TMEM63B_uc003ows.2_Missense_Mutation_p.E509K|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	606						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCGGCCGCCGAGAGGCGCAA	0.677		NaN									OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	9	15				
TDRD6	221400	broad.mit.edu	37	6	46660819	46660819	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46660819G>C	uc003oyj.2	+	1	4954	c.4954G>C	c.(4954-4956)GAC>CAC	p.D1652H	TDRD6_uc010jze.2_Missense_Mutation_p.D1646H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1652					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGAGGGAAATGACTATTTCTA	0.378		NaN											0	0	0	0.006122	0	17	69				
PLA2G7	7941	broad.mit.edu	37	6	46678299	46678299	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46678299C>T	uc010jzf.2	-	8	1029	c.760G>A	c.(760-762)GAT>AAT	p.D254N	PLA2G7_uc010jzg.1_Missense_Mutation_p.D254N|PLA2G7_uc011dwd.1_Missense_Mutation_p.D209N|PLA2G7_uc011dwe.1_Missense_Mutation_p.D127N	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	254					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			TGTTCCATATCAAACTTTAAA	0.333		NaN											0	0	0	0.01441	0	43	37				
MEP1A	4224	broad.mit.edu	37	6	46766860	46766860	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46766860G>A	uc010jzh.1	+	5	246	c.204G>A	c.(202-204)CTG>CTA	p.L68L	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.L96L|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	68	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GAAATGGCCTGAGAGACCCAA	0.428		NaN											0	0	0	0.01441	0	37	112				
CD2AP	23607	broad.mit.edu	37	6	47577018	47577018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:47577018G>C	uc003oyw.2	+	16	2248	c.1792G>C	c.(1792-1794)GAA>CAA	p.E598Q		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	598	Potential.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGCATTGTAGAAGCACTGAA	0.353		NaN											0	0	0	0.009096	0	3	150				
EFHC1	114327	broad.mit.edu	37	6	52344529	52344529	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:52344529C>T	uc003pap.3	+	9	1799	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L	EFHC1_uc011dwv.1_Silent_p.L437L|EFHC1_uc011dww.1_Silent_p.L509L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	528						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					CAGAAGCACTCGCGTCAATTC	0.478		NaN											0	0	0	0.006999	0	39	59				
C6orf142	90523	broad.mit.edu	37	6	53883760	53883760	+	Translation_Start_Site	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:53883760C>G	uc003pcg.3	+	1	47	c.-66C>G	c.(-68--64)ATCAT>ATGAT		C6orf142_uc003pcf.2_Translation_Start_Site	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523							nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CACGTCGAATCATTTTCTAGA	0.398		NaN											0	0	0	0.000602	0	5	11				
DST	667	broad.mit.edu	37	6	56497803	56497803	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:56497803T>A	uc003pdf.2	-	27	3583	c.3555A>T	c.(3553-3555)CAA>CAT	p.Q1185H	DST_uc003pcz.3_Missense_Mutation_p.Q1007H|DST_uc011dxj.1_Missense_Mutation_p.Q1036H|DST_uc011dxk.1_Missense_Mutation_p.Q1047H|DST_uc003pcy.3_Missense_Mutation_p.Q681H|DST_uc003pdb.2_Missense_Mutation_p.Q681H|DST_uc003pdc.3_Missense_Mutation_p.Q681H|DST_uc003pdd.3_Missense_Mutation_p.Q681H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1007					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTAGAACTTGCTGATGTT	0.373		NaN											0	0	0	0.003271	0	31	43				
ZNF451	26036	broad.mit.edu	37	6	57015563	57015563	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:57015563G>A	uc003pdm.1	+	11	2879	c.2655G>A	c.(2653-2655)ATG>ATA	p.M885I	ZNF451_uc003pdl.2_Missense_Mutation_p.M885I|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.M885I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGCGAACCATGACTCATATAG	0.363		NaN											0	0	0	0.012213	0	29	78				
COL12A1	1303	broad.mit.edu	37	6	75799843	75799843	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:75799843C>T	uc003phs.2	-	63	9090	c.8924G>A	c.(8923-8925)GGA>GAA	p.G2975E	COL12A1_uc003pht.2_Missense_Mutation_p.G1811E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2975	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCCAGGGGGTCCCTGCATCCC	0.617		NaN											0	0	0	0.01441	0	65	115				
SNX14	57231	broad.mit.edu	37	6	86223790	86223790	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:86223790C>G	uc003pkr.2	-	25	2748	c.2555G>C	c.(2554-2556)AGA>ACA	p.R852T	SNX14_uc003pkp.2_Missense_Mutation_p.R715T|SNX14_uc003pkq.2_Missense_Mutation_p.R458T|SNX14_uc011dzg.1_Missense_Mutation_p.R800T|SNX14_uc003pks.2_Missense_Mutation_p.R799T|SNX14_uc003pkt.2_Missense_Mutation_p.R843T	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	852					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATACAAACCTCTGAGAAGTGT	0.318		NaN											0	0	0	0.006999	0	34	36				
BACH2	60468	broad.mit.edu	37	6	90647877	90647877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:90647877C>T	uc011eab.1	-	8	2838	c.2029G>A	c.(2029-2031)GAA>AAA	p.E677K	BACH2_uc003pnw.2_Missense_Mutation_p.E677K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	677	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTGCGGATTTCACATTCTAAA	0.458		NaN											0	0	0	0.010818	0	24	116				
COQ3	51805	broad.mit.edu	37	6	99823966	99823966	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:99823966G>A	uc003ppk.2	-	5	606	c.579C>T	c.(577-579)GTC>GTT	p.V193V		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	193					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTATCCAGGACTGGATCAA	0.443		NaN											0	0	0	0.005524	0	32	134				
SEC63	11231	broad.mit.edu	37	6	108202384	108202384	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:108202384G>T	uc003psc.3	-	18	2173	c.1904C>A	c.(1903-1905)ACA>AAA	p.T635K	SEC63_uc003psb.3_Missense_Mutation_p.T495K	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	635	Potential.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACAGGATGTGTTATTTTTGA	0.348		NaN											1	0	8.88839e-20	0.010818	9.52996e-20	28	46				
TRAF3IP2	10758	broad.mit.edu	37	6	111913199	111913199	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:111913199C>T	uc011ebc.1	-	3	706	c.91G>A	c.(91-93)GAA>AAA	p.E31K	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E31K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E31K	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	40					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GGTTCTGATTCCTCTTCCGGG	0.463		NaN											0	0	0	0.00245	0	12	66				
MAP3K5	4217	broad.mit.edu	37	6	137018501	137018501	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:137018501G>C	uc003qhc.2	-	5	1192	c.831C>G	c.(829-831)CTC>CTG	p.L277L	MAP3K5_uc011edk.1_Silent_p.L122L|MAP3K5_uc010kgw.1_Silent_p.L277L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	277					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGATGTCATTGAGTATAGATT	0.358		NaN											0	0	0	0.007413	0	15	100				
TAB2	23118	broad.mit.edu	37	6	149699347	149699347	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:149699347G>T	uc003qmj.2	+	3	474	c.296G>T	c.(295-297)GGA>GTA	p.G99V	TAB2_uc011eec.1_Missense_Mutation_p.G67V|TAB2_uc010kia.1_Missense_Mutation_p.G99V|TAB2_uc010kib.1_Missense_Mutation_p.G99V|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	99					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						AGGATGAATGGAAGTAGGACT	0.453		NaN											1	0	0.000274275	0.004482	0.000279768	7	67				
LATS1	9113	broad.mit.edu	37	6	150023160	150023160	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:150023160G>A	uc003qmu.1	-	2	651	c.103C>T	c.(103-105)CGG>TGG	p.R35W	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.R35W|LATS1_uc003qmw.2_Missense_Mutation_p.R35W|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	35					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGGATTCCCGAATTTCTTGT	0.423		NaN											0	0	0	0.006122	0	16	79				
AKAP12	9590	broad.mit.edu	37	6	151674198	151674198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:151674198G>A	uc011eep.1	+	4	4912	c.4672G>A	c.(4672-4674)GTT>ATT	p.V1558I	AKAP12_uc003qoe.2_Missense_Mutation_p.V1558I|AKAP12_uc003qof.2_Missense_Mutation_p.V1460I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V1453I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1558					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCAGACAGCCGTTGACCAGTT	0.448		NaN											0	0	0	0.003271	0	28	91				
SYNE1	23345	broad.mit.edu	37	6	152640037	152640037	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:152640037C>T	uc010kiw.2	-	85	16952	c.16350G>A	c.(16348-16350)GCG>GCA	p.A5450A	SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Silent_p.A5379A|SYNE1_uc003qou.3_Silent_p.A5450A|SYNE1_uc010kiz.2_Silent_p.A1205A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5450	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGTCTTCGCTTTCAGCT	0.378		NaN								HNSCC(10;0.0054)			0	0	0	0.004482	0	7	38				
TIAM2	26230	broad.mit.edu	37	6	155451298	155451298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:155451298C>T	uc003qqb.2	+	6	2214	c.941C>T	c.(940-942)TCA>TTA	p.S314L	TIAM2_uc003qqe.2_Missense_Mutation_p.S314L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	314					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTCTCCCCCTCAGGTATCCGC	0.557		NaN											0	0	0	0.00333	0	21	30				
SNX8	29886	broad.mit.edu	37	7	2311494	2311494	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:2311494G>A	uc003slw.2	-	4	574	c.531C>T	c.(529-531)TTC>TTT	p.F177F		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	177	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCGAGCCGCTGAAGGACAGGA	0.637		NaN											0	0	0	0.000602	0	5	10				
SDK1	221935	broad.mit.edu	37	7	4189070	4189070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:4189070G>A	uc003smx.2	+	30	4739	c.4600G>A	c.(4600-4602)GAG>AAG	p.E1534K	SDK1_uc010kso.2_Missense_Mutation_p.E810K|SDK1_uc003smy.2_Missense_Mutation_p.E21K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1534	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCAGCCATGAGGCGACAGC	0.667		NaN											0	0	0	0.013537	0	8	10				
CCDC129	223075	broad.mit.edu	37	7	31682389	31682389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:31682389C>T	uc003tcj.1	+	11	2398	c.1405C>T	c.(1405-1407)CAG>TAG	p.Q469*	CCDC129_uc011kad.1_Nonsense_Mutation_p.Q479*|CCDC129_uc003tci.1_Nonsense_Mutation_p.Q320*|CCDC129_uc011kae.1_Nonsense_Mutation_p.Q495*|CCDC129_uc003tck.1_Nonsense_Mutation_p.Q377*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	469											0						CCAGGACTGTCAGCTAGAGTC	0.502		NaN											0	0	0	0.013537	0	11	107				
MRPS24	64951	broad.mit.edu	37	7	43908565	43908565	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:43908565T>C	uc003tit.1	-	3	268	c.217A>G	c.(217-219)ACA>GCA	p.T73A		NM_032014	NP_114403	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24 precursor	73					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CGCTCACCTGTGTGCAGCGAC	0.458		NaN											0	0	0	0.01441	0	52	71				
PKD1L1	168507	broad.mit.edu	37	7	47886526	47886526	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:47886526C>T	uc003tny.1	-	32	5104	c.5104G>A	c.(5104-5106)GAA>AAA	p.E1702K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1702	Extracellular (Potential).|GPS.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAGAAACGTTCAGATTTCCAC	0.408		NaN											0	0	0	0.005524	0	31	79				
VWC2	375567	broad.mit.edu	37	7	49815164	49815164	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:49815164C>G	uc003tot.1	+	2	689	c.133C>G	c.(133-135)CAG>GAG	p.Q45E		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	45					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						GCAGCCGGGCCAGGAGAAGCG	0.716		NaN											0	0	0	0.006214	0	9	6				
MRPS17	51373	broad.mit.edu	37	7	56022758	56022758	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:56022758C>T	uc003trd.2	+	3	310	c.280C>T	c.(280-282)CCA>TCA	p.P94S	MRPS17_uc003trb.2_Missense_Mutation_p.P189S	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17 precursor	94					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTCATAGATCCAGTGACAGG	0.458		NaN											0	0	0	0.007291	0	29	90				
SEMA3A	10371	broad.mit.edu	37	7	83764184	83764184	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:83764184G>A	uc003uhz.2	-	2	511	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	66	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						AGCCTACTCCGTTCCTCATCC	0.388		NaN											0	0	0	0.000602	0	3	72				
SPDYE3	441272	broad.mit.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:99917593G>A	uc003uug.1	+	5	739	c.499G>A	c.(499-501)GAT>AAT	p.D167N	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	544											0						GTGGGCGCGAGATCGCGCCCA	0.582		NaN											0	0	0	0.012213	0	27	18				
SRRT	51593	broad.mit.edu	37	7	100485992	100485992	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:100485992A>C	uc003uwy.2	+	20	2811	c.2543A>C	c.(2542-2544)AAA>ACA	p.K848T	SRRT_uc010lhl.1_Missense_Mutation_p.K847T|SRRT_uc003uxa.2_Missense_Mutation_p.K843T|SRRT_uc003uwz.2_Missense_Mutation_p.K844T|uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	848					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TATCCTGGGAAACCTCGCAAC	0.612		NaN											0	0	0	0.013537	0	11	13				
LAMB4	22798	broad.mit.edu	37	7	107746973	107746973	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:107746973A>C	uc010ljo.1	-	7	720	c.636T>G	c.(634-636)CCT>CCG	p.P212P	LAMB4_uc003vey.2_Silent_p.P212P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	212	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						AGGGGCTATAAGGGTTTTCAA	0.269		NaN											0	0	0	0.010729	0	11	7				
AKR1D1	6718	broad.mit.edu	37	7	137798473	137798473	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:137798473A>G	uc003vtz.2	+	8	962	c.893A>G	c.(892-894)GAC>GGC	p.D298G	AKR1D1_uc011kqe.1_Intron|AKR1D1_uc011kqf.1_Missense_Mutation_p.D257G|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	298					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						GAAATGAAGGACATTGAAGCC	0.388		NaN											0	0	0	0.006122	0	13	23				
ZYX	7791	broad.mit.edu	37	7	143079495	143079495	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:143079495G>A	uc003wcw.2	+	3	518	c.363G>A	c.(361-363)CCG>CCA	p.P121P	ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Silent_p.P121P|ZYX_uc011kte.1_Silent_p.P121P|ZYX_uc011ktf.1_5'UTR	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	121	Pro-rich.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CGCCTCCTCCGGAGGAGGAGG	0.697		NaN											0	0	0	0.004007	0	14	17				
MLL3	58508	broad.mit.edu	37	7	151896487	151896487	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:151896487C>T	uc003wla.2	-	27	4369	c.4150G>A	c.(4150-4152)GAT>AAT	p.D1384N	MLL3_uc003wkz.2_Missense_Mutation_p.D445N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1384					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACAGATTATCTAAACTTATC	0.348		NaN	N		medulloblastoma								0	0	0	0.00499	0	16	13		Valid		
PSD3	23362	broad.mit.edu	37	8	18729886	18729886	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:18729886C>T	uc003wza.2	-	3	591	c.488G>A	c.(487-489)AGT>AAT	p.S163N		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	163					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AACTGAAAAACTAGAAACAGC	0.443		NaN											0	0	0	0.006214	0	9	31				
SCARA5	286133	broad.mit.edu	37	8	27737165	27737165	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:27737165C>T	uc003xgj.2	-	8	1712	c.1272G>A	c.(1270-1272)AAG>AAA	p.K424K	SCARA5_uc010luz.2_Silent_p.K199K	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	424	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTCCGTCCTTCTTGTCCCAGC	0.642		NaN											0	0	0	0.005524	0	32	118				
HGSNAT	138050	broad.mit.edu	37	8	43053085	43053085	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:43053085C>G	uc003xpx.3	+	17	1764	c.1716C>G	c.(1714-1716)TTC>TTG	p.F572L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	600	Helical; (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAACCCCATTCTTTTATCCAG	0.547		NaN											0	0	0	0.001984	0	6	35				
CHD7	55636	broad.mit.edu	37	8	61754499	61754499	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:61754499G>A	uc003xue.2	+	21	5215	c.4738G>A	c.(4738-4740)GAA>AAA	p.E1580K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1580					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCAGACTTGGAAAGTGATTC	0.468		NaN											0	0	0	0.000602	0	5	17		Valid		
BHLHE22	27319	broad.mit.edu	37	8	65494338	65494338	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:65494338G>A	uc003xvi.2	+	1	1525	c.991G>A	c.(991-993)GCT>ACT	p.A331T	LOC401463_uc003xvh.2_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	331	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGCGGCAGCAGCTGCTGCCCT	0.741		NaN											0	0	0	0.000602	0	4	5				
TRAM1	23471	broad.mit.edu	37	8	71510491	71510491	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:71510491C>T	uc003xyo.1	-	3	358	c.188_splice	c.e3-1	p.E63_splice	TRAM1_uc011lfc.1_Splice_Site_p.E32_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GCTTGTTCTTCTGAAGACCAA	0.333		NaN											0	0	0	0.003163	0	13	35				
KIAA1429	25962	broad.mit.edu	37	8	95547204	95547204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:95547204C>T	uc003ygo.1	-	5	360	c.347G>A	c.(346-348)TGG>TAG	p.W116*	KIAA1429_uc003ygp.2_Nonsense_Mutation_p.W116*	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	116					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACAGTTATACCAGCCTCTTAG	0.343		NaN											0	0	0	0.01441	0	41	158				
FZD6	8323	broad.mit.edu	37	8	104337528	104337528	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:104337528A>C	uc003ylh.2	+	4	1478	c.1194A>C	c.(1192-1194)CAA>CAC	p.Q398H	FZD6_uc003yli.2_Missense_Mutation_p.Q398H|FZD6_uc003ylj.2_Missense_Mutation_p.Q398H|FZD6_uc011lhn.1_Missense_Mutation_p.Q364H|FZD6_uc011lho.1_Missense_Mutation_p.Q93H|FZD6_uc011lhp.1_Missense_Mutation_p.Q343H	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	398	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATGTTCGACAAGTCATACAAC	0.408		NaN											0	0	0	0.01441	0	68	194				
KCNV1	27012	broad.mit.edu	37	8	110984991	110984991	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:110984991C>G	uc003ynr.3	-	2	829	c.487G>C	c.(487-489)GAA>CAA	p.E163Q	KCNV1_uc010mcw.2_Missense_Mutation_p.E163Q	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	163	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTAAAGTTTCACTCAGCTCT	0.383		NaN											0	0	0	0.01441	0	54	76				
CSMD3	114788	broad.mit.edu	37	8	113304838	113304838	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:113304838G>A	uc003ynu.2	-	55	8875	c.8716C>T	c.(8716-8718)CTT>TTT	p.L2906F	CSMD3_uc003yns.2_Missense_Mutation_p.L2108F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2866F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2737F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2906	Extracellular (Potential).|Sushi 19.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTTGCATAAGATACCCAATA	0.438		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.01441	0	49	156				
CSMD3	114788	broad.mit.edu	37	8	113363413	113363413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:113363413T>C	uc003ynu.2	-	40	6475	c.6316A>G	c.(6316-6318)ATT>GTT	p.I2106V	CSMD3_uc003yns.2_Missense_Mutation_p.I1308V|CSMD3_uc003ynt.2_Missense_Mutation_p.I2066V|CSMD3_uc011lhx.1_Missense_Mutation_p.I2002V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2106	Extracellular (Potential).|Sushi 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTAAACAAATTGGGATTGGA	0.303		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.006122	0	15	85				
RAD21	5885	broad.mit.edu	37	8	117864827	117864827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:117864827C>A	uc003yod.2	-	10	1570	c.1282G>T	c.(1282-1284)GAG>TAG	p.E428*		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	428					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCTGGTCCTCTCTAGGAACC	0.413		NaN											1	0	6.33239e-15	0.010504	6.70875e-15	18	126				
TG	7038	broad.mit.edu	37	8	133899037	133899037	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:133899037G>C	uc003ytw.2	+	9	1461	c.1420G>C	c.(1420-1422)GGG>CGG	p.G474R		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	474					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTTTTGGAGGGAAATTTTT	0.473		NaN											0	0	0	0.012213	0	32	41				
ZNF251	90987	broad.mit.edu	37	8	145947530	145947530	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:145947530A>C	uc003zdv.3	-	5	1771	c.1515T>G	c.(1513-1515)ATT>ATG	p.I505M		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	505	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTGATGCTGAATGAGGGTTG	0.537		NaN											0	0	0	0.01441	0	64	66				
FREM1	158326	broad.mit.edu	37	9	14740152	14740152	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:14740152C>G	uc003zlm.2	-	36	6925	c.6335G>C	c.(6334-6336)TGG>TCG	p.W2112S	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.W648S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2112	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTGCCTATCCAAAAGGACTT	0.498		NaN											0	0	0	0.006999	0	31	170				
VCP	7415	broad.mit.edu	37	9	35059694	35059694	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:35059694G>A	uc003zvy.2	-	14	2189	c.1800C>T	c.(1798-1800)GTC>GTT	p.V600V	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V269V|VCP_uc010mki.1_Silent_p.V555V	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	600					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGGTTGATGACTCGGTCAG	0.512		NaN											0	0	0	0.01441	0	111	102				
DCAF10	79269	broad.mit.edu	37	9	37861326	37861326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:37861326G>A	uc004aao.2	+	7	1575	c.1501G>A	c.(1501-1503)GAC>AAC	p.D501N	DCAF10_uc010mlz.2_Missense_Mutation_p.D328N|DCAF10_uc004aap.2_Missense_Mutation_p.D152N	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	501	WD 6.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						GTTGGGATTTGACAAACAGTG	0.488		NaN											0	0	0	0.005524	0	36	127				
FAM122A	116224	broad.mit.edu	37	9	71395443	71395443	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:71395443C>T	uc004agw.1	+	1	480	c.363C>T	c.(361-363)TTC>TTT	p.F121F	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	121											0						AGGAAAGTTTCAGCCTGAGTG	0.557		NaN											0	0	0	0.01441	0	108	173				
APBA1	320	broad.mit.edu	37	9	72091005	72091005	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:72091005G>C	uc004ahh.2	-	3	1531	c.1255C>G	c.(1255-1257)CTT>GTT	p.L419V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	419	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CTGGGGTGAAGAGATGTGCTT	0.498		NaN											0	0	0	0.007413	0	16	55				
FLJ46321	389763	broad.mit.edu	37	9	84609239	84609239	+	Missense_Mutation	SNP	C	C	T	rs115598379	by1000genomes	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:84609239C>T	uc004amn.2	+	4	3901	c.3854C>T	c.(3853-3855)ACG>ATG	p.T1285M		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1285						integral to membrane					0						TGTCAAGTTACGAATTTCCCA	0.562		NaN											0	0	0	0.00245	0	13	22				
SLC28A3	64078	broad.mit.edu	37	9	86917263	86917263	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:86917263G>A	uc010mpz.2	-	5	501	c.376C>T	c.(376-378)CAC>TAC	p.H126Y	SLC28A3_uc011lsy.1_Missense_Mutation_p.H57Y|SLC28A3_uc004anu.1_Missense_Mutation_p.H126Y|SLC28A3_uc010mqb.2_Missense_Mutation_p.H57Y	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	126	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AGGGCTCTGTGAAAGTTCAGC	0.483		NaN											0	0	0	0.00308	0	7	20				
NXNL2	158046	broad.mit.edu	37	9	91150578	91150578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:91150578C>T	uc011ltj.1	+	1	563	c.229C>T	c.(229-231)CAG>TAG	p.Q77*	NXNL2_uc004aqa.2_Nonsense_Mutation_p.Q77*	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	77	Thioredoxin.										0						CGGCAGCTCCCAGGAGATGCT	0.647		NaN											0	0	0	0.010504	0	18	30				
FAM120AOS	158293	broad.mit.edu	37	9	96212868	96212868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:96212868C>A	uc004atu.3	-	2	1460	c.577G>T	c.(577-579)GGA>TGA	p.G193*	FAM120AOS_uc004atm.2_RNA|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA|FAM120A_uc004atv.2_5'Flank|FAM120A_uc004atw.2_5'Flank	NM_198841	NP_942138	Q5T036	F120S_HUMAN	hypothetical protein LOC158293	193											0						CATCCTGCTCCTCTACAGAGG	0.493		NaN											1	0	0.000274275	0.004482	0.000279768	8	27				
C9orf3	84909	broad.mit.edu	37	9	97844896	97844896	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:97844896G>A	uc004ava.2	+	15	2494	c.2359G>A	c.(2359-2361)GAG>AAG	p.E787K	C9orf3_uc004auy.2_Missense_Mutation_p.E688K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.E149K|C9orf3_uc011luk.1_Missense_Mutation_p.E128K|C9orf3_uc004avd.2_Missense_Mutation_p.E149K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	787					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GATGGTGAGTGAGGACGCCAG	0.597		NaN											0	0	0	0.003755	0	32	51				
C9orf102	375748	broad.mit.edu	37	9	98660185	98660185	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:98660185G>C	uc004avt.3	+	3	947	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	187	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TGAGGATATTGAAAATAACAT	0.333		NaN											0	0	0	0.00333	0	20	65				
FAM22G	441457	broad.mit.edu	37	9	99691320	99691320	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:99691320G>C	uc004awq.1	+	1	729	c.14G>C	c.(13-15)GGA>GCA	p.G5A		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	5										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GCTTCAAATGGAGGTGAGCCT	0.537		NaN											0	0	0	0.01441	0	91	106				
LPPR1	54886	broad.mit.edu	37	9	104032211	104032211	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:104032211C>A	uc004bbb.2	+	3	512	c.113C>A	c.(112-114)ACT>AAT	p.T38N	LPPR1_uc011lvi.1_Missense_Mutation_p.T14N|LPPR1_uc004bbc.2_Missense_Mutation_p.T38N|LPPR1_uc010mtc.2_Missense_Mutation_p.T22N	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	38						integral to membrane	catalytic activity				0						TTCGAATGCACTGACACTTTT	0.502		NaN											1	0	5.03518e-11	0.007413	5.28731e-11	18	70				
ZNF462	58499	broad.mit.edu	37	9	109688717	109688717	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:109688717C>A	uc004bcz.2	+	3	2813	c.2524C>A	c.(2524-2526)CTT>ATT	p.L842I	ZNF462_uc010mto.2_Missense_Mutation_p.L690I|ZNF462_uc004bda.2_Missense_Mutation_p.L690I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	842					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CTCTGGAAGGCTTTACTATTG	0.423		NaN											1	0	1.39921e-30	0.01441	1.52079e-30	71	109				
PTPN3	5774	broad.mit.edu	37	9	112225592	112225592	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:112225592C>T	uc004bed.2	-	2	235	c.123G>A	c.(121-123)CAG>CAA	p.Q41Q	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.Q41Q|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.3_Silent_p.Q41Q	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	41	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CTTTAAAGGTCTGTACCACGC	0.358		NaN											0	0	0	0.005443	0	25	43				
TNFSF15	9966	broad.mit.edu	37	9	117568272	117568272	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:117568272C>T	uc004bjh.2	-	1	137	c.21G>A	c.(19-21)CTG>CTA	p.L7L		NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	7	Cytoplasmic (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0						CCCCAAAGCTCAGTCCCAGAT	0.622		NaN											0	0	0	0.01441	0	43	87				
RABEPK	10244	broad.mit.edu	37	9	127990287	127990287	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:127990287G>A	uc004bpi.2	+	7	798	c.625G>A	c.(625-627)GGA>AGA	p.G209R	RABEPK_uc004bpj.2_Missense_Mutation_p.G158R|RABEPK_uc004bpk.2_Missense_Mutation_p.G209R|RABEPK_uc004bpl.1_Missense_Mutation_p.G158R|RABEPK_uc004bpm.2_Missense_Mutation_p.G209R	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	209	Kelch 4.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						CTTCATCCACGGAGGCTTGGC	0.488		NaN											0	0	0	0.001984	0	7	50				
GAPVD1	26130	broad.mit.edu	37	9	128074826	128074826	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:128074826G>C	uc010mwx.2	+	9	1863	c.1537G>C	c.(1537-1539)GAG>CAG	p.E513Q	GAPVD1_uc011lzs.1_Missense_Mutation_p.E513Q|GAPVD1_uc004bpp.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E513Q|GAPVD1_uc010mwy.1_Missense_Mutation_p.E372Q	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	513					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCAACCAGAAGAGGTGTTGGT	0.433		NaN											0	0	0	0.01441	0	35	55				
GARNL3	84253	broad.mit.edu	37	9	130119513	130119513	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:130119513G>T	uc011mae.1	+	21	2352	c.1951G>T	c.(1951-1953)GAC>TAC	p.D651Y	GARNL3_uc011mad.1_Missense_Mutation_p.D629Y|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	651	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGTCTGTCTGACTCTCCCAT	0.522		NaN											1	0	3.27435e-08	0.00245	3.39827e-08	12	101				
NUP214	8021	broad.mit.edu	37	9	134026030	134026030	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:134026030G>A	uc004cag.2	+	16	2266	c.2155G>A	c.(2155-2157)GAG>AAG	p.E719K	NUP214_uc004cah.2_Missense_Mutation_p.E709K|NUP214_uc004cai.2_Missense_Mutation_p.E149K|NUP214_uc004caf.1_Missense_Mutation_p.E708K|NUP214_uc010mzf.2_Missense_Mutation_p.E17K	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	719	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGAGTTGGAAGAGTTAAAAGC	0.438		NaN	T	DEK|SET|ABL1	AML|T-ALL								0	0	0	0.004007	0	15	79				
NUP214	8021	broad.mit.edu	37	9	134026095	134026095	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:134026095G>A	uc004cag.2	+	16	2331	c.2220G>A	c.(2218-2220)CTG>CTA	p.L740L	NUP214_uc004cah.2_Silent_p.L730L|NUP214_uc004cai.2_Silent_p.L170L|NUP214_uc004caf.1_Silent_p.L729L|NUP214_uc010mzf.2_Silent_p.L38L	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	740	Leucine-zipper 1.|11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGAAGATGCTGCGAACAGAAT	0.408		NaN	T	DEK|SET|ABL1	AML|T-ALL								0	0	0	0.009535	0	28	100				
SETX	23064	broad.mit.edu	37	9	135139634	135139634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:135139634G>A	uc004cbk.2	-	26	8209	c.8026C>T	c.(8026-8028)CTT>TTT	p.L2676F	SETX_uc004cbj.2_Missense_Mutation_p.L2324F|SETX_uc010mzt.2_Missense_Mutation_p.L2262F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2676	Necessary for nuclear localization.				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCTATAAAAGCTTTCTTTTC	0.493		NaN											0	0	0	0.01441	0	67	95				
VAV2	7410	broad.mit.edu	37	9	136804268	136804268	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:136804268A>G	uc004ces.2	-	2	324	c.278T>C	c.(277-279)CTG>CCG	p.L93P	VAV2_uc004cer.2_Missense_Mutation_p.L93P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	93	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGGGTCAAACAGCTCGCTGTT	0.502		NaN											0	0	0	0.006999	0	40	57				
KIAA0649	9858	broad.mit.edu	37	9	138376899	138376899	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:138376899C>T	uc004cfr.1	+	4	1092	c.543C>T	c.(541-543)GCC>GCT	p.A181A		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	181						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		ACGGCAGTGCCCCGACTGCCC	0.706		NaN											0	0	0	0.00245	0	13	48				
CAMSAP1	157922	broad.mit.edu	37	9	138713796	138713796	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:138713796G>A	uc004cgr.3	-	11	2711	c.2711C>T	c.(2710-2712)GCA>GTA	p.A904V	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A794V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A626V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	904						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCGCTGCCTTGCCGACAGCGC	0.632		NaN											0	0	0	0.01441	0	41	76				
MAN1B1	11253	broad.mit.edu	37	9	139981500	139981500	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:139981500T>A	uc004cld.2	+	1	84	c.49T>A	c.(49-51)TCG>ACG	p.S17T	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.S17T|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	17	Cytoplasmic (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TTCCTCTCAGTCGGACTTCCT	0.692		NaN											0	0	0	0.013537	0	8	5				
CACNA1B	774	broad.mit.edu	37	9	140878605	140878605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:140878605G>A	uc004cog.2	+	13	1817	c.1672G>A	c.(1672-1674)GTC>ATC	p.V558I	CACNA1B_uc011mfd.1_Missense_Mutation_p.V89I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	558	Helical; Name=S3 of repeat II; (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGTGGGGAGCGTCTTTGAAGT	0.592		NaN											0	0	0	0.000602	0	4	8				
PRRG1	5638	broad.mit.edu	37	X	37312442	37312442	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:37312442A>T	uc004ddn.2	+	5	478	c.225A>T	c.(223-225)GGA>GGT	p.G75G	PRRG1_uc004ddo.2_Silent_p.G75G	NM_000950	NP_000941	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	75	Extracellular (Potential).					extracellular region|integral to plasma membrane	calcium ion binding			ovary(1)|breast(1)	2						GTAACCGAGGAAGTGACTGGT	0.373		NaN											0	0	0	0.009535	0	27	9				
CACNA1F	778	broad.mit.edu	37	X	49079027	49079027	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:49079027C>T	uc004dnb.2	-	17	2337	c.2275G>A	c.(2275-2277)GAC>AAC	p.D759N	CACNA1F_uc010nip.2_Missense_Mutation_p.D748N	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	759	II.|Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GCCAGGTTGTCCACAGCAATG	0.562		NaN											0	0	0	0.010818	0	25	18				
HDAC8	55869	broad.mit.edu	37	X	71792545	71792545	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:71792545C>T	uc004eau.2	-	1	109	c.67G>A	c.(67-69)GAG>AAG	p.E23K	HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Missense_Mutation_p.E23K|HDAC8_uc011mqh.1_Missense_Mutation_p.E23K|HDAC8_uc010nlk.1_5'UTR|HDAC8_uc004eav.2_Missense_Mutation_p.E23K|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	23	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)	CTGACATACTCGGGACTATAG	0.592		NaN											0	0	0	0.01441	0	68	42				
PCDH19	57526	broad.mit.edu	37	X	99661763	99661763	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:99661763G>A	uc010nmz.2	-	1	3509	c.1833C>T	c.(1831-1833)GAC>GAT	p.D611D	PCDH19_uc004efw.3_Silent_p.D611D|PCDH19_uc004efx.3_Silent_p.D611D	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	611	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						AGAAGCCGCGGTCGCCCTCGG	0.567		NaN											0	0	0	0.004482	0	8	58				
AMOT	154796	broad.mit.edu	37	X	112033995	112033995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:112033995G>A	uc004epr.2	-	7	1942	c.1942C>T	c.(1942-1944)CAG>TAG	p.Q648*	AMOT_uc004eps.2_Nonsense_Mutation_p.Q239*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	648	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TTGGTGGGCTGACAGTTGCCC	0.512		NaN											0	0	0	0.010771	0	39	29				
DDX26B	203522	broad.mit.edu	37	X	134709105	134709105	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:134709105C>T	uc004eyw.3	+	13	2090	c.1727C>T	c.(1726-1728)CCC>CTC	p.P576L	DDX26B_uc004eyx.3_Missense_Mutation_p.P177L	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	576											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACCAACCCAAAAGACTG	0.403		NaN											0	0	0	0.01441	0	59	29				
CNGA2	1260	broad.mit.edu	37	X	150911821	150911821	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:150911821C>T	uc004fey.1	+	7	1070	c.846C>T	c.(844-846)ATC>ATT	p.I282I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	282	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTACATCTTGGTCATCA	0.507		NaN											0	0	0	0.01441	0	90	48				
PDZD4	57595	broad.mit.edu	37	X	153069709	153069709	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:153069709G>A	uc004fiz.1	-	8	1659	c.1409C>T	c.(1408-1410)GCC>GTC	p.A470V	PDZD4_uc004fiy.1_Missense_Mutation_p.A395V|PDZD4_uc004fix.2_Missense_Mutation_p.A374V|PDZD4_uc004fja.1_Missense_Mutation_p.A476V|PDZD4_uc011mze.1_Missense_Mutation_p.A361V	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	470						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTGTAGGCGCTGGTGCT	0.672		NaN											0	0	0	0.00333	0	23	11				
MRPL20	55052	broad.mit.edu	37	1	1337499	1337499	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:1337499A>G	uc001afo.3	-	4	510	c.414T>C	c.(412-414)CCT>CCC	p.P138P	CCNL2_uc001afh.2_5'Flank|CCNL2_uc001afj.2_5'Flank|CCNL2_uc001afk.2_5'Flank|CCNL2_uc001afi.2_5'Flank|LOC148413_uc001afn.1_RNA	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20 precursor	138							protein binding|rRNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAATGCCTTCAGGTTCCTTCC	0.463		NaN											0	0	0	0.007835	0	32	215				
KIAA0562	9731	broad.mit.edu	37	1	3740058	3740058	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:3740058C>A	uc001aky.2	-	19	2792	c.2433G>T	c.(2431-2433)AAG>AAT	p.K811N	KIAA0562_uc010nzm.1_RNA	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	811						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		AACGGTAACACTTTCCAAACC	0.507		NaN											1	0	0.000978159	0.010729	0.000997898	10	114				
CASZ1	54897	broad.mit.edu	37	1	10705093	10705093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:10705093T>C	uc001aro.2	-	18	4069	c.3749A>G	c.(3748-3750)TAT>TGT	p.Y1250C		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCACAAAATAGCAGCCGGT	0.592		NaN											0	0	0	0.004289	0	27	205				
VPS13D	55187	broad.mit.edu	37	1	12405437	12405437	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:12405437C>T	uc001atv.2	+	43	9033	c.8892C>T	c.(8890-8892)ACC>ACT	p.T2964T	VPS13D_uc001atw.2_Silent_p.T2939T|VPS13D_uc001atx.2_Silent_p.T2151T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2963					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGACACACCCATGACCTCC	0.438		NaN											0	0	0	0.00333	0	23	166				
PADI2	11240	broad.mit.edu	37	1	17395638	17395638	+	Silent	SNP	G	G	A	rs61731909		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17395638G>A	uc001baf.2	-	16	1981	c.1899C>T	c.(1897-1899)GAC>GAT	p.D633D	PADI2_uc010ocm.1_Silent_p.D517D	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597		NaN											0	0	0	0.003954	0	19	173				
PADI1	29943	broad.mit.edu	37	1	17552329	17552329	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17552329G>C	uc001bah.1	+	5	524	c.432G>C	c.(430-432)GAG>GAC	p.E144D		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	144					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGGCCCTGAGGGCTATGGGG	0.602		NaN											0	0	0	0.010504	0	18	150				
ZBTB40	9923	broad.mit.edu	37	1	22816495	22816495	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:22816495C>T	uc001bft.2	+	3	565	c.54C>T	c.(52-54)TGC>TGT	p.C18C	ZBTB40_uc001bfu.2_Silent_p.C18C|ZBTB40_uc009vqi.1_Silent_p.C18C	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	18					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACACTCTGTGCAAGGAGCAGC	0.547		NaN											0	0	0	0.004007	0	13	126				
EPHB2	2048	broad.mit.edu	37	1	23233202	23233202	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:23233202G>C	uc009vqj.1	+	11	2034	c.1889_splice	c.e11-1	p.G630_splice	EPHB2_uc001bge.2_Splice_Site_p.G631_splice|EPHB2_uc001bgf.2_Splice_Site_p.G630_splice|EPHB2_uc010odu.1_Splice_Site_p.G572_splice	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor						axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTCTCTCAGGGGAGTTTGG	0.567		NaN							Hereditary_Prostate_Cancer				0	0	0	0.00308	0	7	48				
PAQR7	164091	broad.mit.edu	37	1	26189908	26189908	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:26189908C>T	uc001bkx.2	-	2	1090	c.423G>A	c.(421-423)CTG>CTA	p.L141L		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	141	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CCACATAGTCCAGGAAGAAGA	0.547		NaN											0	0	0	0.010771	0	36	181				
MACF1	23499	broad.mit.edu	37	1	39801743	39801743	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:39801743A>G	uc010oiu.1	+	1	4934	c.4803A>G	c.(4801-4803)CAA>CAG	p.Q1601Q	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3166					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAACATCAAATTTCCTCAT	0.373		NaN											0	0	0	0.010504	0	20	102				
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:45266717G>C	uc001cmn.2	+	3	428	c.328G>C	c.(328-330)GAG>CAG	p.E110Q	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587		NaN											0	0	0	0.001168	0	5	113				
STIL	6491	broad.mit.edu	37	1	47746122	47746122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:47746122C>G	uc001crc.1	-	12	2163	c.2008G>C	c.(2008-2010)GAT>CAT	p.D670H	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D623H|STIL_uc010omo.1_Missense_Mutation_p.D670H|STIL_uc001crd.1_Missense_Mutation_p.D670H|STIL_uc001cre.1_Missense_Mutation_p.D670H|STIL_uc001crf.1_Missense_Mutation_p.D283H|STIL_uc001crg.1_Missense_Mutation_p.D623H	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	670	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCCCATATCTCCCTGAGGT	0.473		NaN											0	0	0	0.01441	0	50	135				
TMEM61	199964	broad.mit.edu	37	1	55457707	55457707	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:55457707T>C	uc001cyd.2	+	3	838	c.564T>C	c.(562-564)TCT>TCC	p.S188S		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	188						integral to membrane					0						ATGCCGTTTCTGCGGAGACGA	0.612		NaN											0	0	0	0.01441	0	93	209				
LHX8	431707	broad.mit.edu	37	1	75622729	75622729	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:75622729C>T	uc001dgo.2	+	9	1626	c.962C>T	c.(961-963)ACG>ATG	p.T321M	LHX8_uc001dgq.2_Missense_Mutation_p.T260M	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	321						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAAGATGGAACGATGTTAACT	0.478		NaN											0	0	0	0.00278	0	18	84				
NEXN	91624	broad.mit.edu	37	1	78383288	78383288	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:78383288A>G	uc001dic.3	+	3	362	c.65A>G	c.(64-66)TAT>TGT	p.Y22C	NEXN_uc001dia.3_Missense_Mutation_p.Y22C|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	22					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		CCAAAAACCTATGTACCAAAA	0.348		NaN											0	0	0	0.013537	0	10	51				
COL24A1	255631	broad.mit.edu	37	1	86304318	86304318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:86304318G>C	uc001dlj.2	-	43	3673	c.3631C>G	c.(3631-3633)CCA>GCA	p.P1211A	COL24A1_uc001dli.2_Missense_Mutation_p.P347A|COL24A1_uc010osd.1_Missense_Mutation_p.P511A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1211	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCCCCACTGGACCCTACAGA	0.408		NaN											0	0	0	0.003271	0	25	133				
GBP1	2633	broad.mit.edu	37	1	89525999	89525999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:89525999G>T	uc001dmx.2	-	3	419	c.199C>A	c.(199-201)CTG>ATG	p.L67M		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	67					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGAGCCCAGAGAGAAGCCT	0.517		NaN											1	0	1.99824e-07	0.00499	2.12429e-07	14	112				
LRIG2	9860	broad.mit.edu	37	1	113655277	113655277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:113655277G>A	uc001edf.1	+	14	2173	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	LRIG2_uc009wgn.1_Missense_Mutation_p.V556I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	659	Ig-like C2-type 2.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGAGGATGACGTCTTCTTTAT	0.483		NaN											0	0	0	0.006214	0	10	56				
FMO5	2330	broad.mit.edu	37	1	146658516	146658516	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:146658516G>A	uc001epi.2	-	9	1954	c.1565C>T	c.(1564-1566)GCT>GTT	p.A522V	FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	522						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GAAGGCAAGAGCTAGCATAAA	0.403		NaN											0	0	0	0.008291	0	9	76				
TCHHL1	126637	broad.mit.edu	37	1	152059640	152059640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152059640G>C	uc001ezo.1	-	3	583	c.518C>G	c.(517-519)TCT>TGT	p.S173C		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	173							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGTTCAGATGCTTCTCC	0.438		NaN											0	0	0	0.008291	0	9	127				
TCHHL1	126637	broad.mit.edu	37	1	152060608	152060608	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152060608G>C	uc001ezo.1	-	2	77	c.12C>G	c.(10-12)CTC>CTG	p.L4L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	4							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTCTCAGGAGCTGAGGCA	0.458		NaN											0	0	0	0.004482	0	7	105				
HRNR	388697	broad.mit.edu	37	1	152185716	152185716	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152185716C>G	uc001ezt.1	-	3	8465	c.8389G>C	c.(8389-8391)GGT>CGT	p.G2797R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2797	30.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTATAACCAGAGGACTGT	0.537		NaN											0	0	0	0.00333	0	21	166				
TPM3	7170	broad.mit.edu	37	1	154141837	154141837	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:154141837C>T	uc001fec.1	-	9	913	c.798G>A	c.(796-798)CTG>CTA	p.L266L	TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L229L	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	265	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTTGTACTTCAGTTTCTGGG	0.517		NaN	T	NTRK1|ALK	papillary thyroid|ALCL								0	0	0	0.008291	0	8	131				
SMG5	23381	broad.mit.edu	37	1	156230278	156230278	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:156230278A>G	uc001foc.3	-	15	2396	c.2247T>C	c.(2245-2247)TTT>TTC	p.F749F	SMG5_uc009wrv.2_Silent_p.F234F	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	749					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GATCCGTGTCAAAGTTAAAGC	0.547		NaN											0	0	0	0.010818	0	24	179				
POGK	57645	broad.mit.edu	37	1	166818806	166818806	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:166818806C>G	uc001gdt.1	+	5	1110	c.990C>G	c.(988-990)CAC>CAG	p.H330Q	POGK_uc010ple.1_Missense_Mutation_p.H245Q|POGK_uc010plf.1_Missense_Mutation_p.H212Q	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	330					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGCCCCAGCACCTGCCGGAAG	0.547		NaN											0	0	0	0.007835	0	35	118				
FMO4	2329	broad.mit.edu	37	1	171310693	171310693	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:171310693A>G	uc001gho.2	+	10	1609	c.1392A>G	c.(1390-1392)GGA>GGG	p.G464G		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	464					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTTCTTTGGACCATGTACTC	0.498		NaN											0	0	0	0.00499	0	14	113				
DNM3	26052	broad.mit.edu	37	1	172017833	172017833	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:172017833G>C	uc001gie.2	+	10	1454	c.1278G>C	c.(1276-1278)AAG>AAC	p.K426N	DNM3_uc001gid.3_Missense_Mutation_p.K426N|DNM3_uc009wwb.2_Missense_Mutation_p.K426N|DNM3_uc001gif.2_Missense_Mutation_p.K426N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	426					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CTTCCTTGAAGAGTGTGGATC	0.383		NaN											0	0	0	0.00308	0	7	150				
SOAT1	6646	broad.mit.edu	37	1	179320559	179320559	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:179320559C>G	uc001gml.2	+	15	1621	c.1558C>G	c.(1558-1560)CAA>GAA	p.Q520E	SOAT1_uc010pni.1_Missense_Mutation_p.Q455E|SOAT1_uc001gmm.2_Missense_Mutation_p.Q462E|SOAT1_uc010pnj.1_Missense_Mutation_p.Q256E|SOAT1_uc010pnk.1_Missense_Mutation_p.Q455E	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	520					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTATTCTCAAGAATGGTA	0.418		NaN											0	0	0	0.013537	0	10	249				
CACNA1E	777	broad.mit.edu	37	1	181759626	181759626	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:181759626G>T	uc001gow.2	+	44	5997	c.5832G>T	c.(5830-5832)CAG>CAT	p.Q1944H	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1832H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1170H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1944	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTCTCCCCAGGATATATTCC	0.493		NaN											1	0	2.18419e-29	0.01441	2.50962e-29	52	106				
CFH	3075	broad.mit.edu	37	1	196659330	196659330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:196659330G>A	uc001gtj.3	+	9	1537	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K	CFH_uc001gti.3_Missense_Mutation_p.E433K|CFH_uc009wyw.2_Missense_Mutation_p.E408K|CFH_uc009wyx.2_Missense_Mutation_p.E369K	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	433	Sushi 7.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TACATGTATGGAGAATGGCTG	0.433		NaN											0	0	0	0.001984	0	5	112				
DDX59	83479	broad.mit.edu	37	1	200617674	200617674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200617674C>T	uc009wzk.2	-	7	1732	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	DDX59_uc010ppl.1_Missense_Mutation_p.E497K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	497	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACTACAACTTCATAGTCTCCT	0.363		NaN											0	0	0	0.010729	0	10	235				
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200967639G>C	uc001gvs.1	-	14	2267	c.1950C>G	c.(1948-1950)ATC>ATG	p.I650M	KIF21B_uc001gvr.1_Missense_Mutation_p.I650M|KIF21B_uc009wzl.1_Missense_Mutation_p.I650M|KIF21B_uc010ppn.1_Missense_Mutation_p.I650M	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	650	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCAGCTCGTCGATCAGCTTCT	0.562		NaN											0	0	0	0.004656	0	23	235				
KDM5B	10765	broad.mit.edu	37	1	202743773	202743773	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:202743773T>C	uc001gyf.2	-	3	489	c.373A>G	c.(373-375)AGG>GGG	p.R125G	KDM5B_uc009xag.2_Missense_Mutation_p.R125G|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	125	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AAGATCTTCCTCTCCACATGT	0.358		NaN											0	0	0	0.012319	0	17	68				
C4BPA	722	broad.mit.edu	37	1	207300065	207300065	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:207300065C>T	uc001hfo.2	+	7	908	c.714C>T	c.(712-714)ACC>ACT	p.T238T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TAGAAATCACCTGTCGCAAGC	0.373		NaN											0	0	0	0.004656	0	21	100				
WDR26	80232	broad.mit.edu	37	1	224588738	224588738	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:224588738G>A	uc001hop.3	-	9	1258	c.892C>T	c.(892-894)CAT>TAT	p.H298Y	WDR26_uc001hoq.3_Missense_Mutation_p.H282Y|WDR26_uc010pvh.1_Missense_Mutation_p.H5Y	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	445	WD 3.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		CTGTCTTCATGAGACTGGCTC	0.418		NaN											0	0	0	0.008291	0	9	55				
TMEM63A	9725	broad.mit.edu	37	1	226053628	226053628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:226053628C>T	uc001hpm.1	-	10	965	c.715G>A	c.(715-717)GCC>ACC	p.A239T		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	239						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TCCTTCCTGGCATCTCTGGGG	0.627		NaN											0	0	0	0.010504	0	14	36				
OR13G1	441933	broad.mit.edu	37	1	247835472	247835472	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:247835472T>A	uc001idi.1	-	1	872	c.872A>T	c.(871-873)AAT>ATT	p.N291I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCTCCCTATTCTGGAAGCT	0.448		NaN											0	0	0	0.00308	0	6	152				
TRIM58	25893	broad.mit.edu	37	1	248039733	248039733	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248039733A>G	uc001ido.2	+	6	1451	c.1403A>G	c.(1402-1404)AAT>AGT	p.N468S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	468						intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTCAGGAAATTGGGCATCC	0.448		NaN											0	0	0	0.009535	0	26	81				
OR2T1	26696	broad.mit.edu	37	1	248570047	248570047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248570047T>C	uc010pzm.1	+	1	752	c.752T>C	c.(751-753)GTG>GCG	p.V251A		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	251	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGATGTATGTGTGCTGTGTT	0.507		NaN											0	0	0	0.007291	0	26	89				
SLC39A12	221074	broad.mit.edu	37	10	18289692	18289692	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:18289692C>T	uc001ipo.2	+	11	1970	c.1697C>T	c.(1696-1698)TCA>TTA	p.S566L	SLC39A12_uc001ipn.2_Missense_Mutation_p.S529L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S565L|SLC39A12_uc010qck.1_Missense_Mutation_p.S432L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	566	Poly-Ser.|Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TTCTCATCATCATCCGAGTCA	0.443		NaN											0	0	0	0.000602	0	5	75				
KIAA1217	56243	broad.mit.edu	37	10	24822144	24822144	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:24822144A>G	uc001iru.3	+	16	3795	c.3392A>G	c.(3391-3393)GAC>GGC	p.D1131G	KIAA1217_uc001irs.2_Missense_Mutation_p.D1051G|KIAA1217_uc001irt.3_Missense_Mutation_p.D1096G|KIAA1217_uc010qcy.1_Missense_Mutation_p.D1095G|KIAA1217_uc010qcz.1_Missense_Mutation_p.D1096G|KIAA1217_uc001irw.2_Missense_Mutation_p.D814G|KIAA1217_uc001irz.2_Missense_Mutation_p.D814G|KIAA1217_uc001irx.2_Missense_Mutation_p.D814G|KIAA1217_uc001iry.2_Missense_Mutation_p.D814G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1131					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAAGAAGGAGACAAAATAATG	0.537		NaN											0	0	0	0.010729	0	9	72				
PTCHD3	374308	broad.mit.edu	37	10	27703135	27703135	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:27703135C>T	uc001itu.2	-	1	163	c.45G>A	c.(43-45)AAG>AAA	p.K15K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	15					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGAGCTTGGGCTTCTGCTCCG	0.642		NaN											0	0	0	0.007835	0	36	188				
TMEM72	643236	broad.mit.edu	37	10	45430459	45430459	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:45430459C>T	uc001jbn.2	+	5	902	c.705C>T	c.(703-705)CTC>CTT	p.L235L	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L117L	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	235						integral to membrane					0						TCCCCTCCCTCGCCGAAGGTC	0.602		NaN											0	0	0	0.008291	0	9	176				
OGDHL	55753	broad.mit.edu	37	10	50957813	50957813	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:50957813T>A	uc001jie.2	-	8	1088	c.946A>T	c.(946-948)ATC>TTC	p.I316F	OGDHL_uc009xog.2_Missense_Mutation_p.I343F|OGDHL_uc010qgt.1_Missense_Mutation_p.I259F|OGDHL_uc010qgu.1_Missense_Mutation_p.I107F|OGDHL_uc009xoh.2_Missense_Mutation_p.I107F	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	316					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TGGCAGAAGATCTGCTCCAGG	0.662		NaN											0	0	0	0.000602	0	4	26				
ARID5B	84159	broad.mit.edu	37	10	63850916	63850916	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:63850916C>T	uc001jlt.1	+	10	1720	c.1694C>T	c.(1693-1695)ACC>ATC	p.T565I		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	565					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGCCACTCACCTCTCCTAGT	0.562		NaN											0	0	0	0.004007	0	14	62				
EGR2	1959	broad.mit.edu	37	10	64573654	64573654	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64573654G>C	uc010qim.1	-	3	898	c.744C>G	c.(742-744)CCC>CCG	p.P248P	EGR2_uc010qin.1_Silent_p.P198P|EGR2_uc001jmi.2_Silent_p.P248P|EGR2_uc010qio.1_Silent_p.P261P|EGR2_uc009xph.2_Silent_p.P248P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	248					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGGAAAGGGCTTACGGT	0.597		NaN											0	0	0	0.007413	0	16	95				
EGR2	1959	broad.mit.edu	37	10	64575748	64575748	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64575748G>A	uc010qim.1	-	2	196	c.42C>T	c.(40-42)CTC>CTT	p.L14L	EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Silent_p.L14L|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Silent_p.L14L	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	14					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAACCACTGAGAGTTACTG	0.572		NaN											0	0	0	0.00632	0	21	369				
REEP3	221035	broad.mit.edu	37	10	65369972	65369972	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:65369972T>G	uc001jmt.2	+	6	626	c.443T>G	c.(442-444)TTA>TGA	p.L148*		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	148						integral to membrane					0	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGTTTAAGAAGCTTC	0.328		NaN											0	0	0	0.004672	0	3	10				
DNA2	1763	broad.mit.edu	37	10	70182518	70182518	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:70182518G>A	uc001jof.2	-	15	2596	c.2596C>T	c.(2596-2598)CGG>TGG	p.R866W	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	780					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						ACAAATCTCCGTGAAAAAAAA	0.408		NaN											0	0	0	0.00308	0	8	22				
SYNPO2L	79933	broad.mit.edu	37	10	75407279	75407279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:75407279G>C	uc001jut.3	-	4	2283	c.2131C>G	c.(2131-2133)CCC>GCC	p.P711A	SYNPO2L_uc001jus.3_Missense_Mutation_p.P487A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	711	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GGGGTCTTGGGAGCCATTGGA	0.627		NaN											0	0	0	0.006999	0	31	133				
GRID1	2894	broad.mit.edu	37	10	87362131	87362131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:87362131G>A	uc001kdl.1	-	16	3030	c.2929C>T	c.(2929-2931)CGG>TGG	p.R977W	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R548W|uc001kdk.1_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	977	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GGGCTCTGCCGGAACAGCCCC	0.667		NaN								Multiple Myeloma(13;0.14)			0	0	0	0.003954	0	21	96				
NUP98	4928	broad.mit.edu	37	11	3746382	3746382	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:3746382C>T	uc001lyh.2	-	15	2089	c.1798G>A	c.(1798-1800)GAT>AAT	p.D600N	NUP98_uc001lyi.2_Missense_Mutation_p.D600N|NUP98_uc001lyj.1_Missense_Mutation_p.D600N|NUP98_uc001lyk.1_Missense_Mutation_p.D617N	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	617					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTCTGAATCACGATTAACA	0.328		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.00308	0	7	57				
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:4470668C>G	uc001lyz.1	+	1	99	c.99C>G	c.(97-99)TTC>TTG	p.F33L		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517		NaN											0	0	0	0.010504	0	18	112				
TEAD1	7003	broad.mit.edu	37	11	12901332	12901332	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:12901332T>A	uc001mkj.3	+	6	1028	c.363T>A	c.(361-363)ATT>ATA	p.I121I	TEAD1_uc001mkk.3_Silent_p.I40I|TEAD1_uc009ygl.2_Silent_p.I15I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	136					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACTGCCATTCATAACAAGC	0.597		NaN											0	0	0	0.001168	0	5	106				
ACCSL	390110	broad.mit.edu	37	11	44075044	44075044	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:44075044A>C	uc001mxw.1	+	8	1093	c.1037A>C	c.(1036-1038)GAA>GCA	p.E346A	ACCSL_uc009ykr.2_Missense_Mutation_p.E165A	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	346							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AAATACCTGGAATTTGCCAAG	0.433		NaN											0	0	0	0.008291	0	8	63				
DGKZ	8525	broad.mit.edu	37	11	46397494	46397494	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:46397494G>T	uc001ncn.1	+	22	2693	c.2568G>T	c.(2566-2568)AAG>AAT	p.K856N	DGKZ_uc001nch.1_Missense_Mutation_p.K684N|DGKZ_uc010rgq.1_Missense_Mutation_p.K611N|DGKZ_uc001ncj.1_Missense_Mutation_p.K634N|DGKZ_uc010rgr.1_Missense_Mutation_p.K633N|DGKZ_uc001nck.1_Missense_Mutation_p.K446N|DGKZ_uc001ncl.2_Missense_Mutation_p.K668N|DGKZ_uc001ncm.2_Missense_Mutation_p.K667N|DGKZ_uc009yky.1_Missense_Mutation_p.K668N|DGKZ_uc010rgs.1_Missense_Mutation_p.K645N	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	856					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGCAGCTCAAGGAGGCCTGTG	0.687		NaN											1	0	0.004672	0.004672	0.00475562	3	16				
OR8H2	390151	broad.mit.edu	37	11	55872742	55872742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55872742C>G	uc010riy.1	+	1	224	c.224C>G	c.(223-225)TCA>TGA	p.S75*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					CTCAGTTACTCAACTGTCGTC	0.438		NaN								HNSCC(53;0.14)			0	0	0	0.004656	0	22	485				
OR8H2	390151	broad.mit.edu	37	11	55873336	55873336	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55873336T>C	uc010riy.1	+	1	818	c.818T>C	c.(817-819)GTG>GCG	p.V273A		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					AGAGATCAAGTGGCTTCTGTT	0.373		NaN								HNSCC(53;0.14)			0	0	0	0.007413	0	16	96				
OR10Q1	219960	broad.mit.edu	37	11	57995840	57995840	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:57995840G>T	uc010rkd.1	-	1	508	c.508C>A	c.(508-510)CTG>ATG	p.L170M		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				CAAAAGGGCAGGGTGAAGATT	0.652		NaN											1	0	0.000602214	0.000602	0.000615747	5	48				
AHNAK	79026	broad.mit.edu	37	11	62291760	62291760	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62291760C>G	uc001ntl.2	-	5	10429	c.10129G>C	c.(10129-10131)GAT>CAT	p.D3377H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3377					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTCAATATCTGGCTTTTTA	0.383		NaN											0	0	0	0.006214	0	8	95				
AHNAK	79026	broad.mit.edu	37	11	62292043	62292043	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292043C>G	uc001ntl.2	-	5	10146	c.9846G>C	c.(9844-9846)AAG>AAC	p.K3282N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3282					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGTCAGGCATCTTCAGTTTTG	0.428		NaN											0	0	0	0.006214	0	6	121				
AHNAK	79026	broad.mit.edu	37	11	62292768	62292768	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292768C>G	uc001ntl.2	-	5	9421	c.9121G>C	c.(9121-9123)GAT>CAT	p.D3041H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3041					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ACATCCACATCTGGGCCCTCT	0.522		NaN											0	0	0	0.004289	0	28	401				
AHNAK	79026	broad.mit.edu	37	11	62292797	62292797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292797C>G	uc001ntl.2	-	5	9392	c.9092G>C	c.(9091-9093)AGC>ACC	p.S3031T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3031					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCAGGCATGCTGAATTTGGG	0.532		NaN											0	0	0	0.005524	0	30	424				
AHNAK	79026	broad.mit.edu	37	11	62294178	62294178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62294178C>G	uc001ntl.2	-	5	8011	c.7711G>C	c.(7711-7713)GAG>CAG	p.E2571Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2571					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTTCATCTCTGGCATCTTT	0.473		NaN											0	0	0	0.00333	0	19	260				
METTL12	751071	broad.mit.edu	37	11	62434192	62434192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62434192C>T	uc001nug.1	+	3	651	c.392C>T	c.(391-393)CCT>CTT	p.P131L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	131						mitochondrion	methyltransferase activity				0						CCTCTATGCCCTGGACACCCT	0.597		NaN											0	0	0	0.008291	0	11	61				
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62521022G>C	uc001nuz.2	-	2	387	c.265C>G	c.(265-267)CGG>GGG	p.R89G		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AGCACAGCCCGATGGGCCAAG	0.557		NaN											0	0	0	0.009096	0	4	26				
SLC29A2	3177	broad.mit.edu	37	11	66133943	66133943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66133943G>C	uc001oht.2	-	8	1055	c.826C>G	c.(826-828)CAG>GAG	p.Q276E	SLC29A2_uc001ohs.2_Missense_Mutation_p.Q156E|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.Q156E|SLC29A2_uc001ohu.2_Missense_Mutation_p.Q276E|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	276					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						CCTGGCTTCTGGGGCTCATCT	0.532		NaN											0	0	0	0.010729	0	10	56				
C11orf80	79703	broad.mit.edu	37	11	66571581	66571581	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66571581C>A	uc001ojf.2	+	9	965	c.958C>A	c.(958-960)CTG>ATG	p.L320M	C11orf80_uc001ojg.2_Missense_Mutation_p.L86M|C11orf80_uc001ojh.2_Missense_Mutation_p.L87M|C11orf80_uc001oji.2_Missense_Mutation_p.L87M|C11orf80_uc010rpk.1_Missense_Mutation_p.L155M	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	165											0						GTTGGGAGAACTGATACTGAC	0.463		NaN											1	0	1.59361e-14	0.006999	1.76421e-14	41	156				
CLPB	81570	broad.mit.edu	37	11	72069953	72069953	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:72069953T>C	uc001osj.2	-	6	886	c.836A>G	c.(835-837)TAC>TGC	p.Y279C	CLPB_uc010rqx.1_Missense_Mutation_p.Y234C|CLPB_uc010rqy.1_Missense_Mutation_p.Y220C|CLPB_uc001osk.2_Missense_Mutation_p.Y249C|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.Y78C	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	279	ANK 3.				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						GACAGTGCGGTAGTCATCAGC	0.413		NaN											0	0	0	0.003163	0	11	143				
CHRDL2	25884	broad.mit.edu	37	11	74422031	74422031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:74422031G>C	uc001ovi.2	-	4	548	c.295C>G	c.(295-297)CAC>GAC	p.H99D	CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.H99D|CHRDL2_uc001ovk.1_Missense_Mutation_p.H99D			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	99					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					GAGGGAGTGTGAGGTTCTGCA	0.517		NaN											0	0	0	0.006214	0	7	54				
SESN3	143686	broad.mit.edu	37	11	94910950	94910950	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:94910950C>T	uc001pfk.1	-	8	1402	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	SESN3_uc010rug.1_Missense_Mutation_p.E255K	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	394					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAACATCCTCATGGGTGGCC	0.388		NaN											0	0	0	0.013537	0	11	84				
YAP1	10413	broad.mit.edu	37	11	102100657	102100657	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:102100657C>T	uc001pgt.2	+	9	1871	c.1501C>T	c.(1501-1503)CTT>TTT	p.L501F	YAP1_uc001pgs.2_Missense_Mutation_p.L451F|YAP1_uc001pgu.2_Missense_Mutation_p.L485F|YAP1_uc001pgv.2_Missense_Mutation_p.L447F|YAP1_uc010ruo.1_Missense_Mutation_p.L323F|YAP1_uc001pgw.2_Missense_Mutation_p.L325F|YAP1_uc010rup.1_Missense_Mutation_p.L266F	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	501	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGAAAGCTTTCTTACATGGTT	0.438		NaN											0	0	0	0.00278	0	19	118				
DYNC2H1	79659	broad.mit.edu	37	11	103055726	103055726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103055726A>G	uc001pho.2	+	41	6723	c.6579A>G	c.(6577-6579)ATA>ATG	p.I2193M	DYNC2H1_uc001phn.1_Missense_Mutation_p.I2193M|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2193					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAATCTCATAAGGGGACTTG	0.348		NaN											0	0	0	0.00333	0	20	53				
DYNC2H1	79659	broad.mit.edu	37	11	103270433	103270433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103270433C>T	uc001pho.2	+	84	12343	c.12199C>T	c.(12199-12201)CGA>TGA	p.R4067*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R4074*|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4067					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTAACGATCGACAAGGATC	0.348		NaN											0	0	0	0.00499	0	13	31				
ATM	472	broad.mit.edu	37	11	108122629	108122629	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108122629G>T	uc001pkb.1	+	11	2058	c.1673G>T	c.(1672-1674)GGA>GTA	p.G558V	ATM_uc009yxr.1_Missense_Mutation_p.G558V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	558					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G558*(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAAAAATGGGAATAGAGCAA	0.353		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			1	0	1.45105e-14	0.006122	1.61425e-14	16	87		Inconclusive		
ATM	472	broad.mit.edu	37	11	108201015	108201015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108201015G>C	uc001pkb.1	+	50	7767	c.7382G>C	c.(7381-7383)CGC>CCC	p.R2461P	ATM_uc009yxr.1_Missense_Mutation_p.R2461P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1113P|ATM_uc001pkg.1_Missense_Mutation_p.R818P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2461	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATCGTAAACGCTTCTTATGT	0.388		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.010729	0	10	44		Valid		
ASAM	79827	broad.mit.edu	37	11	122953891	122953891	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:122953891A>G	uc001pyt.2	-	5	940	c.581T>C	c.(580-582)CTG>CCG	p.L194P		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	194	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		ATTCTGCAGCAGAACTCGTCC	0.443		NaN											0	0	0	0.013537	0	11	134				
ACRV1	56	broad.mit.edu	37	11	125547901	125547901	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:125547901G>A	uc001qcs.2	-	2	611	c.344C>T	c.(343-345)TCA>TTA	p.S115L	ACRV1_uc001qck.2_Missense_Mutation_p.S45L|ACRV1_uc001qcl.2_Missense_Mutation_p.S45L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S60L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S45L|ACRV1_uc001qcr.2_Missense_Mutation_p.S115L	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	115	4 X 4 AA repeats of S-G-E-H.|3-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTGTTCTCCTGAAGGCTGCTC	0.527		NaN											0	0	0	0.010729	0	11	160				
KDM5A	5927	broad.mit.edu	37	12	431654	431654	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:431654C>T	uc001qif.1	-	17	2718	c.2355G>A	c.(2353-2355)AGG>AGA	p.R785R	KDM5A_uc001qie.1_Silent_p.R785R|KDM5A_uc010sdn.1_Silent_p.R744R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	785					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTACAGCATCCCTGAGTTTTC	0.373		NaN	T 	NUP98	AML								0	0	0	0.00499	0	16	143				
PLEKHA5	54477	broad.mit.edu	37	12	19427653	19427653	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:19427653T>A	uc001reb.2	+	10	1117	c.1031T>A	c.(1030-1032)GTA>GAA	p.V344E	PLEKHA5_uc010sie.1_Missense_Mutation_p.V350E|PLEKHA5_uc001rea.2_Missense_Mutation_p.V344E|PLEKHA5_uc009zin.2_Missense_Mutation_p.V102E|PLEKHA5_uc010sif.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sig.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sih.1_Missense_Mutation_p.V236E|PLEKHA5_uc001rec.1_Missense_Mutation_p.V32E	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	344							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTAATAGTGTAAAGCTGAAT	0.383		NaN											0	0	0	0.005443	0	23	127				
C12orf77	196415	broad.mit.edu	37	12	25148970	25148970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:25148970G>C	uc001rgf.2	-	3	383	c.178C>G	c.(178-180)CTA>GTA	p.L60V		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	60											0						CCAGTGGGTAGAGAACCCGGC	0.458		NaN											0	0	0	0.001168	0	5	42				
ITPR2	3709	broad.mit.edu	37	12	26647234	26647234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:26647234G>A	uc001rhg.2	-	39	5639	c.5222C>T	c.(5221-5223)TCA>TTA	p.S1741L	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1741	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTCTGACATTGATATCCCCAT	0.338		NaN											0	0	0	0.007413	0	13	53				
TM7SF3	51768	broad.mit.edu	37	12	27135731	27135731	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:27135731G>C	uc010sjl.1	-	7	1168	c.930C>G	c.(928-930)TTC>TTG	p.F310L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	310	Phe-rich.|Helical; (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					TGTGTCCAAAGAAACAAATGA	0.368		NaN											0	0	0	0.00308	0	6	36				
FAM60A	58516	broad.mit.edu	37	12	31446847	31446847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:31446847C>T	uc010sjz.1	-	4	486	c.247G>A	c.(247-249)GGA>AGA	p.G83R	FAM60A_uc001rkd.2_Missense_Mutation_p.G83R|FAM60A_uc010ska.1_Missense_Mutation_p.G83R|FAM60A_uc001rke.2_Missense_Mutation_p.G83R|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.G108R	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	83											0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AGACTGGGTCCAGCCCTTGCA	0.368		NaN											0	0	0	0.010729	0	11	71				
MLL2	8085	broad.mit.edu	37	12	49433004	49433004	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49433004C>A	uc001rta.3	-	33	8366	c.8366_splice	c.e33+1	p.R2789_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGGAGCCTCACCGGCTGTTCA	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	9.8876e-21	0.004878	1.12191e-20	27	143		Valid		
METTL7A	25840	broad.mit.edu	37	12	51318851	51318851	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51318851G>C	uc001rxb.2	+	1	318	c.30G>C	c.(28-30)CTG>CTC	p.L10L	METTL7A_uc010smv.1_Silent_p.L10L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	10	Targeting to lipid droplets.					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						TCCTGAGACTGGCCATTTACA	0.453		NaN											0	0	0	0.012213	0	26	144				
SLC4A8	9498	broad.mit.edu	37	12	51865155	51865155	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51865155T>C	uc001rys.1	+	14	1921	c.1743T>C	c.(1741-1743)GAT>GAC	p.D581D	SLC4A8_uc010sni.1_Silent_p.D528D|SLC4A8_uc001rym.2_Silent_p.D528D|SLC4A8_uc001ryn.2_Silent_p.D528D|SLC4A8_uc001ryo.2_Silent_p.D528D|SLC4A8_uc010snj.1_Silent_p.D608D|SLC4A8_uc001ryq.3_Silent_p.D581D|SLC4A8_uc001ryr.2_Silent_p.D581D|SLC4A8_uc010snk.1_Silent_p.D528D	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	581	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCAACTGATGCCAGTTCCC	0.428		NaN											0	0	0	0.003271	0	31	146				
SP1	6667	broad.mit.edu	37	12	53775912	53775912	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:53775912T>G	uc001scw.2	+	3	278	c.181T>G	c.(181-183)TTG>GTG	p.L61V	SP1_uc010sog.1_Missense_Mutation_p.L54V	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	61	Ser/Thr-rich.|Repressor domain.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCATCCCCTTTGGCTCTGCT	0.542		NaN									OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	16	75				
HNRNPA1	3178	broad.mit.edu	37	12	54675607	54675607	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:54675607C>G	uc001sfl.2	+	3	265	c.161C>G	c.(160-162)TCC>TGC	p.S54C	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zng.2_Missense_Mutation_p.S54C|HNRNPA1_uc009znh.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zni.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfn.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.S9C|HNRNPA1_uc009znj.1_Missense_Mutation_p.S9C	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	54	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						ACCAAGCGCTCCAGGGGCTTT	0.448		NaN											0	0	0	0.004482	0	7	30				
INHBE	83729	broad.mit.edu	37	12	57850077	57850077	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:57850077G>A	uc001snw.2	+	2	723	c.499G>A	c.(499-501)GGC>AGC	p.G167S		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	167					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						CACCAACCTGGGCTGGCATAC	0.577		NaN									OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	87	336				
TMEM5	10329	broad.mit.edu	37	12	64195998	64195998	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:64195998A>C	uc001srq.1	+	4	660	c.556A>C	c.(556-558)AAT>CAT	p.N186H	TMEM5_uc001srr.1_Missense_Mutation_p.N83H|TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	186	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTATGCACAAAATTTAGTGCA	0.363		NaN											0	0	0	0.009096	0	4	62				
IRAK3	11213	broad.mit.edu	37	12	66605244	66605244	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:66605244C>G	uc001sth.2	+	5	557	c.455C>G	c.(454-456)TCC>TGC	p.S152C	IRAK3_uc010ssy.1_Missense_Mutation_p.S91C	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	152					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		CTTAAATCTTCCATCAGCTTT	0.338		NaN											0	0	0	0.001168	0	6	47				
PTPRR	5801	broad.mit.edu	37	12	71139613	71139613	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:71139613A>G	uc001swi.1	-	6	1408	c.992T>C	c.(991-993)ATA>ACA	p.I331T	PTPRR_uc001swh.1_Missense_Mutation_p.I86T|PTPRR_uc009zrs.2_Missense_Mutation_p.I180T|PTPRR_uc010stq.1_Missense_Mutation_p.I219T|PTPRR_uc010str.1_Missense_Mutation_p.I180T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	331	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAAGTCCTATGGGCTTCAT	0.423		NaN											0	0	0	0.001168	0	5	49				
TRHDE	29953	broad.mit.edu	37	12	72667281	72667281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:72667281C>G	uc001sxa.2	+	1	753	c.723C>G	c.(721-723)ATC>ATG	p.I241M	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	241	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ACGCGCTCATCGAGAATGAGC	0.587		NaN											0	0	0	0.014323	0	20	101				
GLIPR1L2	144321	broad.mit.edu	37	12	75784898	75784898	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:75784898T>C	uc001sxr.1	+	1	10	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.M1T|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	1						integral to membrane				ovary(1)	1						CGGTGGACCATGGAGGCCGCA	0.682		NaN									OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	21				
LRRIQ1	84125	broad.mit.edu	37	12	85459088	85459088	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:85459088C>T	uc001tac.2	+	9	2551	c.2440C>T	c.(2440-2442)CTG>TTG	p.L814L	LRRIQ1_uc001tab.1_Silent_p.L814L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TCTCTCCACACTGGCAGAGTG	0.383		NaN											0	0	0	0.003954	0	22	114				
USP44	84101	broad.mit.edu	37	12	95926706	95926706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:95926706C>T	uc001teg.2	-	2	1471	c.1327G>A	c.(1327-1329)GGT>AGT	p.G443S	USP44_uc001teh.2_Missense_Mutation_p.G443S|USP44_uc009zte.2_Missense_Mutation_p.G440S	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	443					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						AAACTGGTACCAGTTGTCTCT	0.388		NaN											0	0	0	0.010729	0	10	54				
HAL	3034	broad.mit.edu	37	12	96370219	96370219	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:96370219G>A	uc001tem.1	-	20	2118	c.1821C>T	c.(1819-1821)CTC>CTT	p.L607L	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.L399L|HAL_uc010sux.1_Intron	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	607					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TCTGCTCCAGGAGCAGCCTGT	0.507		NaN											0	0	0	0.00278	0	19	96				
APAF1	317	broad.mit.edu	37	12	99076995	99076995	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:99076995C>T	uc001tfz.2	+	15	2698	c.2121C>T	c.(2119-2121)TTC>TTT	p.F707F	APAF1_uc001tfy.2_Silent_p.F696F|APAF1_uc001tga.2_Silent_p.F696F|APAF1_uc001tgb.2_Silent_p.F707F|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.F116F	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	707	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GCTGCCATTTCACCAACAGTA	0.383		NaN											0	0	0	0.014323	0	19	183				
C12orf48	55010	broad.mit.edu	37	12	102589201	102589201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:102589201C>T	uc001tjf.2	+	10	1487	c.1375C>T	c.(1375-1377)CTT>TTT	p.L459F	C12orf48_uc001tjg.2_Missense_Mutation_p.L378F|C12orf48_uc010swa.1_Missense_Mutation_p.L536F|C12orf48_uc001tjh.2_Missense_Mutation_p.L378F|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.L174F|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	459					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TTTGTGTGTTCTTTACATGGA	0.264		NaN											0	0	0	0.006122	0	15	142				
NOS1	4842	broad.mit.edu	37	12	117696896	117696896	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:117696896G>C	uc001twm.1	-	15	3093	c.2407C>G	c.(2407-2409)CAT>GAT	p.H803D	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	803	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGAGTTTCATGTTCCAGGTGC	0.408		NaN											0	0	0	0.010729	0	9	102				
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:120875952C>T	uc001tyf.1	+	1	49	c.23C>T	c.(22-24)TCG>TTG	p.S8L		NM_004373	NP_004364	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637		NaN											0	0	0	0.00308	0	6	32				
C12orf43	64897	broad.mit.edu	37	12	121454163	121454163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:121454163G>A	uc001tzh.1	-	1	138	c.115C>T	c.(115-117)CGC>TGC	p.R39C	C12orf43_uc009zxa.1_Missense_Mutation_p.R39C|C12orf43_uc010szo.1_Translation_Start_Site|C12orf43_uc010szp.1_Missense_Mutation_p.R39C|C12orf43_uc001tzi.1_Missense_Mutation_p.R39C	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	39											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGCGGGCGTTGCTCCAAG	0.627		NaN											0	0	0	0.008291	0	10	50				
KNTC1	9735	broad.mit.edu	37	12	123087591	123087591	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:123087591G>A	uc001ucv.2	+	48	5065	c.4902G>A	c.(4900-4902)CTG>CTA	p.L1634L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1634					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGACACTCTGTACGTGTCTA	0.363		NaN											0	0	0	0.004672	0	3	24				
UFM1	51569	broad.mit.edu	37	13	38924164	38924164	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:38924164A>T	uc001uwu.2	+	2	146	c.31A>T	c.(31-33)ACG>TCG	p.T11S	UFM1_uc010abz.2_Missense_Mutation_p.T11S|UFM1_uc010aca.2_Missense_Mutation_p.T11S	NM_016617	NP_057701	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1 precursor	11					protein ufmylation	cytoplasm|nucleus	protein binding				0		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		GATCACGCTGACGTCGGACCC	0.582		NaN											0	0	0	0.010504	0	19	126				
FREM2	341640	broad.mit.edu	37	13	39446912	39446912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:39446912C>T	uc001uwv.2	+	17	8326	c.8017C>T	c.(8017-8019)CGA>TGA	p.R2673*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2673	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGACCCTTCGAGTCCCTCT	0.438		NaN											0	0	0	0.003954	0	21	91				
AKAP11	11215	broad.mit.edu	37	13	42876351	42876351	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:42876351A>G	uc001uys.1	+	8	3644	c.3469A>G	c.(3469-3471)ATA>GTA	p.I1157V		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1157					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAAAATACTATAGAAAAAGA	0.423		NaN											0	0	0	0.000602	0	5	115				
RCBTB2	1102	broad.mit.edu	37	13	49064303	49064303	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:49064303C>T	uc001vch.2	-	15	1971	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N	RCBTB2_uc001vcg.2_RNA|RCBTB2_uc010tgg.1_Missense_Mutation_p.D539N|RCBTB2_uc001vci.2_Missense_Mutation_p.D510N|RCBTB2_uc010tgh.1_Missense_Mutation_p.D260N|RCBTB2_uc001vcj.2_Missense_Mutation_p.D486N	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	534							Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTCAGGAGATCATGGTCCATT	0.398		NaN											0	0	0	0.006214	0	7	106				
KLHL1	57626	broad.mit.edu	37	13	70535552	70535552	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:70535552G>T	uc001vip.2	-	3	1499	c.705C>A	c.(703-705)GAC>GAA	p.D235E	KLHL1_uc010thm.1_Missense_Mutation_p.D174E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCAAAATAGTCGGAGACTG	0.443		NaN											1	0	6.40141e-05	0.010729	6.60463e-05	10	58				
C13orf34	79866	broad.mit.edu	37	13	73305498	73305498	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:73305498G>C	uc001viv.1	+	3	352	c.233G>C	c.(232-234)CGT>CCT	p.R78P	C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.R153P|C13orf34_uc010thr.1_Intron|C13orf34_uc001viw.1_Intron	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	78					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		GATATTCATCGTCAAGCTTTA	0.353		NaN											0	0	0	0.001984	0	5	95				
LMO7	4008	broad.mit.edu	37	13	76397778	76397778	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:76397778A>G	uc001vjv.2	+	12	2779	c.2019A>G	c.(2017-2019)GCA>GCG	p.A673A	LMO7_uc010thv.1_Silent_p.A624A|LMO7_uc001vjt.1_Silent_p.A572A|LMO7_uc010thw.1_Silent_p.A523A|LMO7_uc001vjw.1_Silent_p.A579A	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	958						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCACCCCTGCACCAAGCCCGG	0.453		NaN											0	0	0	0.00278	0	23	87				
EDNRB	1910	broad.mit.edu	37	13	78477304	78477304	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:78477304G>A	uc001vko.2	-	3	1046	c.788C>T	c.(787-789)ACA>ATA	p.T263I	EDNRB_uc001vkq.1_Missense_Mutation_p.T263I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.T263I|EDNRB_uc001vkp.1_Missense_Mutation_p.T346I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	263	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATGAAAGCTGTCTTCTGAAC	0.403		NaN											0	0	0	0.006122	0	13	83				
CLYBL	171425	broad.mit.edu	37	13	100425084	100425084	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:100425084G>A	uc001vok.2	+	2	83	c.69G>A	c.(67-69)GCG>GCA	p.A23A	CLYBL_uc010tix.1_Silent_p.A23A|CLYBL_uc010tiy.1_Silent_p.A23A	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	23					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGGAAAGCGTCTCTAGCAG	0.393		NaN											0	0	0	0.005524	0	33	174				
TNFSF13B	10673	broad.mit.edu	37	13	108922324	108922325	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:108922324_108922325TG>GA	uc001vqr.2	+	1	348_349	c.81_82TG>GA	c.(79-84)TGTGTT>TGGATT	p.27_28CV>WI	TNFSF13B_uc010agj.2_Missense_Mutation_p.27_28CV>WI	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	27_28	Cytoplasmic (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGAAGGAGTGTGTTTCCATCCT	0.495		NaN											0	0	0	0.004672	0	12	219				
MYO16	23026	broad.mit.edu	37	13	109672259	109672259	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:109672259G>A	uc001vqt.1	+	23	2856	c.2730G>A	c.(2728-2730)AGG>AGA	p.R910R	MYO16_uc010agk.1_Silent_p.R932R|MYO16_uc001vqu.1_Silent_p.R710R|MYO16_uc010tjh.1_Silent_p.R422R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	910	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGCAGGAAGGGTAAGTGGCC	0.448		NaN											0	0	0	0.010729	0	10	65				
CHD8	57680	broad.mit.edu	37	14	21870182	21870182	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870182C>T	uc001was.1	-	20	3253	c.3159G>A	c.(3157-3159)CAG>CAA	p.Q1053Q	CHD8_uc001war.1_Silent_p.Q949Q|CHD8_uc001wav.1_Silent_p.Q495Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1332					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTAACAAGATCTGGTCAATGT	0.413		NaN											0	0	0	0.001855	0	12	156				
CHD8	57680	broad.mit.edu	37	14	21870572	21870572	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870572C>G	uc001was.1	-	19	3062	c.2968G>C	c.(2968-2970)GAT>CAT	p.D990H	CHD8_uc001war.1_Missense_Mutation_p.D886H|CHD8_uc001wav.1_Missense_Mutation_p.D432H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1269	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGCCTTATCAAACATCTCT	0.483		NaN											0	0	0	0.001984	0	6	116				
DCAF11	80344	broad.mit.edu	37	14	24588376	24588376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:24588376G>C	uc001wlv.2	+	9	1082	c.802G>C	c.(802-804)GTC>CTC	p.V268L	DCAF11_uc001wlw.2_Missense_Mutation_p.V268L|DCAF11_uc001wlz.2_Missense_Mutation_p.V168L|DCAF11_uc001wly.2_Missense_Mutation_p.V224L|DCAF11_uc001wme.2_Missense_Mutation_p.V228L|DCAF11_uc010tny.1_Missense_Mutation_p.V135L|DCAF11_uc001wmd.2_Missense_Mutation_p.V268L|DCAF11_uc001wmc.2_Missense_Mutation_p.V168L|DCAF11_uc001wmb.3_Missense_Mutation_p.V242L|DCAF11_uc001wma.3_Missense_Mutation_p.V268L	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	268	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0						TCGCTTTGCTGTCTTCTCCAT	0.463		NaN											0	0	0	0.00278	0	17	155				
MAPK1IP1L	93487	broad.mit.edu	37	14	55529993	55529993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:55529993C>T	uc001xbq.1	+	3	840	c.676C>T	c.(676-678)CAA>TAA	p.Q226*		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	MAPK-interacting and spindle-stabilizing	226	Pro-rich.										0						TAATCCTTTCCAAGTGCCTTC	0.512		NaN											0	0	0	0.006214	0	9	102				
KCNH5	27133	broad.mit.edu	37	14	63174336	63174336	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174336G>C	uc001xfx.2	-	11	2908	c.2857C>G	c.(2857-2859)CCC>GCC	p.P953A	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	953	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGATTTGGGAGATGAGGCC	0.463		NaN											0	0	0	0.010504	0	19	211				
KCNH5	27133	broad.mit.edu	37	14	63174651	63174651	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174651C>G	uc001xfx.2	-	11	2593	c.2542G>C	c.(2542-2544)GAT>CAT	p.D848H	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	848	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTCTGAATCACTGCTCTTG	0.438		NaN											0	0	0	0.003163	0	12	117				
FUT8	2530	broad.mit.edu	37	14	66208906	66208906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:66208906G>C	uc001xin.2	+	11	2703	c.1506G>C	c.(1504-1506)CAG>CAC	p.Q502H	FUT8_uc001xio.2_Missense_Mutation_p.Q502H|FUT8_uc010tsp.1_Missense_Mutation_p.Q339H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Q502H|FUT8_uc001xiq.2_Missense_Mutation_p.Q373H|FUT8_uc001xis.2_Missense_Mutation_p.Q96H	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	502	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGGGCCAGAATGCCCACA	0.433		NaN											0	0	0	0.004482	0	8	172				
PLEKHH1	57475	broad.mit.edu	37	14	68040539	68040539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040539C>T	uc001xjl.1	+	13	2003	c.1861C>T	c.(1861-1863)CAA>TAA	p.Q621*	PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.Q189*|PLEKHH1_uc001xjm.1_Nonsense_Mutation_p.Q136*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.Q136*	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	621	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAACCTCAAGGCCAAGT	0.502		NaN											0	0	0	0.006214	0	7	131				
PLEKHH1	57475	broad.mit.edu	37	14	68040602	68040602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040602C>G	uc001xjl.1	+	13	2066	c.1924C>G	c.(1924-1926)CAG>GAG	p.Q642E	PLEKHH1_uc010tsw.1_Missense_Mutation_p.Q210E|PLEKHH1_uc001xjm.1_Missense_Mutation_p.Q157E|PLEKHH1_uc001xjn.1_Missense_Mutation_p.Q157E	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	642	PH 1.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAGACGTTTCAGGTGAGCAC	0.488		NaN											0	0	0	0.004482	0	7	93				
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:77255678G>A	uc001xsv.2	-	10	2019	c.1906C>T	c.(1906-1908)CTC>TTC	p.L636F	uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	636										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562		NaN											0	0	0	0.007413	0	14	169				
STON2	85439	broad.mit.edu	37	14	81743987	81743987	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81743987T>C	uc010tvu.1	-	4	1869	c.1668A>G	c.(1666-1668)TCA>TCG	p.S556S	STON2_uc001xvk.1_Silent_p.S556S|STON2_uc010tvt.1_Silent_p.S353S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	556	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCAAGTCCATTGACAACACTG	0.478		NaN											0	0	0	0.001168	0	6	43				
SEL1L	6400	broad.mit.edu	37	14	81950697	81950697	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81950697C>A	uc010tvv.1	-	19	2035	c.1918G>T	c.(1918-1920)GGG>TGG	p.G640W		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	640	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 10.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGCCAAACCCATAGAAATGG	0.368		NaN											1	0	2.4624e-09	0.008871	2.65495e-09	18	161				
SPATA7	55812	broad.mit.edu	37	14	88883148	88883148	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:88883148A>G	uc001xwq.2	+	5	483	c.332A>G	c.(331-333)TAT>TGT	p.Y111C	SPATA7_uc001xwr.2_Missense_Mutation_p.Y79C|SPATA7_uc001xws.2_Missense_Mutation_p.Y47C|SPATA7_uc001xwt.2_Missense_Mutation_p.Y5C	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	111					response to stimulus|visual perception					ovary(1)	1						CGAGCCAATTATAAAAATAAT	0.294		NaN											0	0	0	0.004482	0	7	76				
ZC3H14	79882	broad.mit.edu	37	14	89044449	89044449	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:89044449A>G	uc001xww.2	+	9	1469	c.1244A>G	c.(1243-1245)GAG>GGG	p.E415G	ZC3H14_uc010twd.1_Missense_Mutation_p.E415G|ZC3H14_uc010twe.1_Missense_Mutation_p.E415G|ZC3H14_uc001xwx.2_Missense_Mutation_p.E415G|ZC3H14_uc010twf.1_Missense_Mutation_p.E260G|ZC3H14_uc001xwy.2_Missense_Mutation_p.E381G|ZC3H14_uc010twg.1_Missense_Mutation_p.E260G|ZC3H14_uc001xxa.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	415						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						ATTAAAGAAGAGGAAACAAAA	0.388		NaN											0	0	0	0.00308	0	6	107				
PAPOLA	10914	broad.mit.edu	37	14	96998956	96998956	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:96998956T>C	uc001yfq.2	+	9	1016	c.806T>C	c.(805-807)GTA>GCA	p.V269A	PAPOLA_uc001yfp.2_Missense_Mutation_p.V269A|PAPOLA_uc001yfr.2_Missense_Mutation_p.V269A|PAPOLA_uc010twv.1_Missense_Mutation_p.V269A|PAPOLA_uc010avp.2_Missense_Mutation_p.V19A	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	269					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACTCTTGTACATAAATTT	0.313		NaN											0	0	0	0.001984	0	5	61				
TECPR2	9895	broad.mit.edu	37	14	102904529	102904529	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:102904529A>G	uc001ylw.1	+	10	2713	c.2565A>G	c.(2563-2565)GCA>GCG	p.A855A	TECPR2_uc010awl.2_Silent_p.A855A|TECPR2_uc010txx.1_Silent_p.A18A	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	855							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						AGCAGGTGGCAGTCTCGCCCT	0.438		NaN									OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	9	54				
AMN	81693	broad.mit.edu	37	14	103390133	103390133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:103390133C>A	uc001ymg.3	+	2	162	c.129C>A	c.(127-129)TGC>TGA	p.C43*	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	43	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716		NaN											1	0	2.17888e-05	0.006214	2.25829e-05	10	48				
CYFIP1	23191	broad.mit.edu	37	15	23003016	23003016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:23003016C>G	uc001yus.2	+	31	3842	c.3738C>G	c.(3736-3738)ATC>ATG	p.I1246M	CYFIP1_uc001yut.2_Missense_Mutation_p.I1246M|CYFIP1_uc001yuu.2_Missense_Mutation_p.I815M|CYFIP1_uc001yuv.2_Missense_Mutation_p.I440M	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1246					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGCCGCCCATCCACCAGTCCC	0.552		NaN											0	0	0	0.000602	0	5	38				
C15orf55	256646	broad.mit.edu	37	15	34640674	34640674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:34640674C>T	uc001zif.2	+	2	676	c.521C>T	c.(520-522)CCC>CTC	p.P174L	C15orf55_uc010ucc.1_Missense_Mutation_p.P202L|C15orf55_uc010ucd.1_Missense_Mutation_p.P192L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	174	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCATTGTGCCCCTGGAAAAA	0.597		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.004672	0	3	26				
ZNF770	54989	broad.mit.edu	37	15	35275416	35275416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:35275416G>A	uc001ziw.2	-	3	531	c.220C>T	c.(220-222)CAA>TAA	p.Q74*		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	74	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGAGTTAGTTGATGCCTCTCC	0.358		NaN											0	0	0	0.003163	0	12	84				
CASC5	57082	broad.mit.edu	37	15	40917631	40917631	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:40917631C>T	uc010bbs.1	+	11	5408	c.5247C>T	c.(5245-5247)ATC>ATT	p.I1749I	CASC5_uc010ucq.1_Silent_p.I1573I|CASC5_uc001zme.2_Silent_p.I1723I|CASC5_uc010bbt.1_Silent_p.I1723I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1749					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGATGAGATCAATTCTTCAG	0.343		NaN											0	0	0	0.004007	0	15	114				
INO80	54617	broad.mit.edu	37	15	41347486	41347486	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41347486T>A	uc001zni.2	-	18	2360	c.2147A>T	c.(2146-2148)GAC>GTC	p.D716V	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	716	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GCTCTCAATGTCCTTGGAAAA	0.378		NaN											0	0	0	0.00499	0	16	76				
EXD1	161829	broad.mit.edu	37	15	41482170	41482170	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41482170G>T	uc001znk.2	-	9	1038	c.847C>A	c.(847-849)CGC>AGC	p.R283S	EXD1_uc001znj.2_Missense_Mutation_p.R81S|EXD1_uc010ucv.1_Missense_Mutation_p.R341S	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						GACCCTTCGCGATACGTGTTT	0.547		NaN											1	0	2.17888e-05	0.006214	2.25829e-05	7	132				
SPTBN5	51332	broad.mit.edu	37	15	42171661	42171661	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:42171661G>C	uc001zos.2	-	16	3207	c.2874C>G	c.(2872-2874)GCC>GCG	p.A958A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	993	Spectrin 7.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTGCACGGCCTTCTCCC	0.632		NaN											0	0	0	0.009096	0	4	6				
FBN1	2200	broad.mit.edu	37	15	48725087	48725087	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48725087T>C	uc001zwx.1	-	55	7043	c.6715A>G	c.(6715-6717)AGA>GGA	p.R2239G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2239	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTCTTCTCTGAGCACATAT	0.468		NaN											0	0	0	0.007835	0	30	171				
FBN1	2200	broad.mit.edu	37	15	48773879	48773879	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48773879C>G	uc001zwx.1	-	32	4265	c.3937G>C	c.(3937-3939)GGC>CGC	p.G1313R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1313	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTTTTTGCCGGAGTAGCCC	0.373		NaN											0	0	0	0.00499	0	14	137				
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51514603G>A	uc001zyz.3	-	6	822	c.571C>T	c.(571-573)CTG>TTG	p.L191L	CYP19A1_uc001zza.3_Silent_p.L191L|CYP19A1_uc001zzb.2_Silent_p.L191L|CYP19A1_uc001zzd.2_Silent_p.L191L|CYP19A1_uc010bey.1_Silent_p.L191L	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	191					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACACGACGCAGAAGGGTCAAC	0.488		NaN											0	0	0	0.006214	0	8	96				
DMXL2	23312	broad.mit.edu	37	15	51792343	51792343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51792343G>C	uc002abf.2	-	18	3303	c.3078C>G	c.(3076-3078)TTC>TTG	p.F1026L	DMXL2_uc010ufy.1_Missense_Mutation_p.F1026L|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1026	WD 8.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AACATTTCCAGAAGCGTACTT	0.363		NaN											0	0	0	0.001168	0	5	108				
LIPC	3990	broad.mit.edu	37	15	58855759	58855759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:58855759G>C	uc010bga.1	+	10	1833	c.1225G>C	c.(1225-1227)GAT>CAT	p.D409H	LIPC_uc010bfz.1_Missense_Mutation_p.D409H|LIPC_uc002afa.1_Missense_Mutation_p.D409H|LIPC_uc010bgb.1_Missense_Mutation_p.D307H|LIPC_uc010ugy.1_Missense_Mutation_p.D348H	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	409	PLAT.		D -> A.		cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGGATGTGGATATCGGCGA	0.453		NaN											0	0	0	0.006214	0	9	176				
VPS13C	54832	broad.mit.edu	37	15	62167121	62167121	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:62167121T>C	uc002agz.2	-	77	10442	c.10368A>G	c.(10366-10368)GCA>GCG	p.A3456A	VPS13C_uc002aha.2_Silent_p.A3413A|VPS13C_uc002ahb.1_Silent_p.A3456A|VPS13C_uc002ahc.1_Silent_p.A3413A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3456					protein localization					ovary(2)	2						CTAACCCCTCTGCAAATTCTT	0.294		NaN											0	0	0	0.01441	0	45	220				
TLN2	83660	broad.mit.edu	37	15	63032843	63032843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:63032843G>C	uc002alb.3	+	29	3900	c.3900G>C	c.(3898-3900)CAG>CAC	p.Q1300H	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1300					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AAGAAGACCAGATCCAAGTGA	0.502		NaN											0	0	0	0.010504	0	21	101				
DENND4A	10260	broad.mit.edu	37	15	66021464	66021464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66021464T>C	uc002aph.2	-	11	1811	c.1433A>G	c.(1432-1434)TAT>TGT	p.Y478C	DENND4A_uc002api.2_Missense_Mutation_p.Y478C|DENND4A_uc002apj.3_Missense_Mutation_p.Y478C|DENND4A_uc010ujj.1_Missense_Mutation_p.Y478C	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	478	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGGAGGATCATAGAGATCAAA	0.393		NaN											0	0	0	0.00308	0	5	19				
RAB11A	8766	broad.mit.edu	37	15	66172008	66172008	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66172008G>A	uc002apk.2	+	4	559	c.431_splice	c.e4-1	p.E144_splice	RAB11A_uc010ujk.1_Splice_Site_p.E144_splice	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A						cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0						TCTCCCCTCAGAAAAGAATGG	0.338		NaN											0	0	0	0.008291	0	10	155				
ACSBG1	23205	broad.mit.edu	37	15	78475048	78475048	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:78475048G>A	uc002bdh.2	-	6	799	c.743C>T	c.(742-744)ACG>ATG	p.T248M	ACSBG1_uc010umw.1_Missense_Mutation_p.T244M|ACSBG1_uc010umx.1_Missense_Mutation_p.T6M|ACSBG1_uc010umy.1_Missense_Mutation_p.T141M	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGCCCATACCGTGTACACATT	0.537		NaN											0	0	0	0.004289	0	27	161				
FAM154B	283726	broad.mit.edu	37	15	82575106	82575106	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:82575106T>C	uc002bgv.2	+	3	969	c.900T>C	c.(898-900)ATT>ATC	p.I300I	FAM154B_uc010unr.1_Silent_p.I285I|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	300										skin(2)	2						AAGGACTTATTAAGAAGCAGC	0.398		NaN											0	0	0	0.014323	0	16	74				
ADAMTSL3	57188	broad.mit.edu	37	15	84651116	84651116	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651116G>T	uc002bjz.3	+	21	2960	c.2736G>T	c.(2734-2736)AAG>AAT	p.K912N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K912N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K912N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	912	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGAGAAGCGTATTAACC	0.468		NaN											1	0	0.000157383	0.00308	0.000161646	8	99				
ADAMTSL3	57188	broad.mit.edu	37	15	84651605	84651605	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651605G>A	uc002bjz.3	+	21	3449	c.3225G>A	c.(3223-3225)TTG>TTA	p.L1075L	ADAMTSL3_uc010bmt.1_Silent_p.L1075L|ADAMTSL3_uc010bmu.1_Silent_p.L1075L	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1075						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGGAGTTGAAGAATAAGC	0.443		NaN											0	0	0	0.001168	0	6	72				
AGBL1	123624	broad.mit.edu	37	15	86702233	86702233	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:86702233C>A	uc002blz.1	+	4	406	c.326C>A	c.(325-327)ACC>AAC	p.T109N		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	109					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACTCCTTACACCCGAAAGCGC	0.438		NaN											1	0	5.61819e-17	0.005443	6.28078e-17	18	117				
NTRK3	4916	broad.mit.edu	37	15	88679230	88679230	+	Silent	SNP	C	C	G	rs141317844	by1000genomes	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:88679230C>G	uc002bme.1	-	8	969	c.807G>C	c.(805-807)ACG>ACC	p.T269T	NTRK3_uc002bmh.2_Silent_p.T269T|NTRK3_uc002bmf.1_Silent_p.T269T|NTRK3_uc010upl.1_Silent_p.T171T|NTRK3_uc010bnh.1_Silent_p.T269T|NTRK3_uc002bmg.2_Silent_p.T269T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	269	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATTCACCAGCGTCAAGTTGA	0.478		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.008871	0	16	154				
CRTC3	64784	broad.mit.edu	37	15	91169176	91169176	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:91169176G>A	uc002bpp.2	+	10	1024	c.918G>A	c.(916-918)GTG>GTA	p.V306V	CRTC3_uc002bpo.2_Silent_p.V306V	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	306					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAATAGTGTGAACAACATCC	0.537		NaN	T	MAML2	salivary gland mucoepidermoid								0	0	0	0.00874	0	34	500				
CHD2	1106	broad.mit.edu	37	15	93496669	93496669	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:93496669C>A	uc002bsp.2	+	14	2160	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K	CHD2_uc002bso.1_Missense_Mutation_p.Q529K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	529	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTTCCACCAACACCAGCT	0.443		NaN											1	0	9.86323e-18	0.003954	1.10536e-17	24	108				
ZNF213	7760	broad.mit.edu	37	16	3189016	3189016	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:3189016G>C	uc010uws.1	+	5	1085	c.638G>C	c.(637-639)CGG>CCG	p.R213P	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.R213P|ZNF213_uc010uwt.1_Silent_p.P188P	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	213	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TATTTCTCCCGGGAAGAATGG	0.617		NaN											0	0	0	0.013537	0	9	170				
ATF7IP2	80063	broad.mit.edu	37	16	10524885	10524885	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:10524885T>G	uc002czu.2	+	3	635	c.408T>G	c.(406-408)GAT>GAG	p.D136E	ATF7IP2_uc002czv.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGGCAAAAGATTCACTGAACA	0.413		NaN											0	0	0	0.003271	0	27	103				
KIAA0430	9665	broad.mit.edu	37	16	15728731	15728731	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:15728731T>A	uc002ddr.2	-	4	1082	c.889A>T	c.(889-891)AAT>TAT	p.N297Y	KIAA0430_uc002ddq.2_Missense_Mutation_p.N296Y|KIAA0430_uc010uzv.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzw.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzx.1_3'UTR	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	296						peroxisome	nucleotide binding|RNA binding				0						GGTTGAGTATTTGGAGGTGGT	0.443		NaN											0	0	0	0.00308	0	7	174				
DNAH3	55567	broad.mit.edu	37	16	20975225	20975225	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:20975225A>G	uc010vbe.1	-	53	9981	c.9981T>C	c.(9979-9981)AAT>AAC	p.N3327N	DNAH3_uc010vbd.1_Silent_p.N762N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3327					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCATGTAGAGATTTATGAACC	0.488		NaN											0	0	0	0.010729	0	10	127				
CRYM	1428	broad.mit.edu	37	16	21273477	21273477	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21273477C>G	uc002dik.2	-	6	761	c.676G>C	c.(676-678)GTT>CTT	p.V226L	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.V184L|CRYM_uc002dim.2_Missense_Mutation_p.V226L	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	226					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CTGGCTCCAACAGCTAAGAGA	0.522		NaN											0	0	0	0.001984	0	5	40				
RABEP2	79874	broad.mit.edu	37	16	28919983	28919983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:28919983G>A	uc002drq.2	-	8	1240	c.1192C>T	c.(1192-1194)CAG>TAG	p.Q398*	uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q327*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q366*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						TGCGAGCCCTGGGGGGCTGAG	0.642		NaN											0	0	0	0.008871	0	19	191				
CD2BP2	10421	broad.mit.edu	37	16	30365608	30365608	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:30365608C>T	uc002dxr.2	-	2	367	c.114G>A	c.(112-114)GGG>GGA	p.G38G	CD2BP2_uc002dxs.2_Silent_p.G38G	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	38					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1						TAAAGCGGCTCCCAGGACCCC	0.537		NaN											0	0	0	0.010818	0	25	362				
RPGRIP1L	23322	broad.mit.edu	37	16	53636095	53636095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:53636095C>G	uc002ehp.2	-	27	3905	c.3841G>C	c.(3841-3843)GAT>CAT	p.D1281H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.D1201H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.D1235H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.D1247H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	1281					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GCTCGTGCATCAAAAACTAGG	0.423		NaN											0	0	0	0.00308	0	5	56				
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	G	rs139857215	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55360337C>G	uc002ehy.2	+	2	668	c.135C>G	c.(133-135)CCC>CCG	p.P45P	IRX6_uc002ehx.2_Silent_p.P45P|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCCCAGCGCCCGCTCTCTGCT	0.637		NaN											0	0	0	0.006214	0	7	61				
IRX6	79190	broad.mit.edu	37	16	55362966	55362966	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55362966C>T	uc002ehy.2	+	5	1609	c.1076C>T	c.(1075-1077)ACA>ATA	p.T359I	IRX6_uc002ehx.2_Missense_Mutation_p.T359I	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CACACCGCGACAGCCAGCGCT	0.637		NaN											0	0	0	0.008871	0	14	104				
NLRC5	84166	broad.mit.edu	37	16	57103764	57103764	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:57103764G>T	uc002ekk.1	+	37	4741	c.4516G>T	c.(4516-4518)GTG>TTG	p.V1506L	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.V48L|NLRC5_uc002ekr.1_Missense_Mutation_p.V393L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1506	LRR 16.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CTCCAGCTGTGTGAGCACCGA	0.637		NaN											1	0	0.000274275	0.004482	0.00028107	5	20				
FAM65A	79567	broad.mit.edu	37	16	67576933	67576933	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:67576933G>T	uc010vjp.1	+	13	2400	c.2304G>T	c.(2302-2304)ACG>ACT	p.T768T	FAM65A_uc010cei.1_Silent_p.T590T|FAM65A_uc002eth.2_Silent_p.T748T|FAM65A_uc010cej.2_Silent_p.T751T|FAM65A_uc002eti.1_Silent_p.T711T|FAM65A_uc010vjq.1_Silent_p.T762T|FAM65A_uc002etj.1_Silent_p.T747T|FAM65A_uc002etk.2_Silent_p.T747T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	752	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGAGTCTACGGTTCAGAGTC	0.622		NaN											1	0	3.4597e-24	0.01441	3.95519e-24	48	187				
SRR	63826	broad.mit.edu	37	17	2221250	2221250	+	Silent	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:2221250A>C	uc002fue.1	+	3	323	c.255A>C	c.(253-255)GGA>GGC	p.G85G	SRR_uc002fui.1_5'UTR|SRR_uc002fuh.1_Silent_p.G85G	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	85					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAGCAGTGGAAACCATGGCC	0.468		NaN											0	0	0	0.014323	0	22	104				
PSMB6	5694	broad.mit.edu	37	17	4700748	4700748	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:4700748T>A	uc002fzb.2	+	3	219	c.186T>A	c.(184-186)AAT>AAA	p.N62K		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						ACATCGCCAATCGAGTGACTG	0.552		NaN											0	0	0	0.009535	0	25	130				
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	G	C	rs144480346	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:15952254G>C	uc002gpo.2	-	41	6681	c.6441C>G	c.(6439-6441)TAC>TAG	p.Y2147*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2147	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGGGCTCGTAGGGCTCCG	0.522		NaN											0	0	0	0.014323	0	18	102		Valid		
MAPK7	5598	broad.mit.edu	37	17	19284405	19284405	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:19284405C>A	uc002gvn.2	+	4	1269	c.883C>A	c.(883-885)CGG>AGG	p.R295R	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R156R|MAPK7_uc002gvq.2_Silent_p.R295R|MAPK7_uc002gvp.2_Silent_p.R295R	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	295	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGAGAGGGTGCGGGCCTATAT	0.607		NaN											1	0	4.68919e-08	0.008291	4.99668e-08	8	68				
SLFN12L	342615	broad.mit.edu	37	17	33806548	33806548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:33806548G>C	uc002hjn.2	-	3	1647	c.768C>G	c.(766-768)TTC>TTG	p.F256L		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						TTTCAGTCGAGAAGTTTTTTA	0.343		NaN											0	0	0	0.001168	0	5	65				
RAPGEFL1	51195	broad.mit.edu	37	17	38346912	38346912	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:38346912C>T	uc010cwu.1	+	8	1105	c.615C>T	c.(613-615)ATC>ATT	p.I205I	RAPGEFL1_uc010wfd.1_Silent_p.I141I	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	411					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCGAGGAGATCCAGGTCTCCC	0.637		NaN											0	0	0	0.009718	0	40	146				
ITGA2B	3674	broad.mit.edu	37	17	42462686	42462686	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:42462686A>T	uc002igt.1	-	5	624	c.592T>A	c.(592-594)TGT>AGT	p.C198S		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	198	FG-GAP 3.|Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCCGCTTCACAGTAACGCTTG	0.682		NaN											0	0	0	0.009096	0	3	27				
OSBPL7	114881	broad.mit.edu	37	17	45891068	45891068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:45891068G>A	uc002ilx.1	-	15	1687	c.1484C>T	c.(1483-1485)TCA>TTA	p.S495L	OSBPL7_uc002ilw.1_Missense_Mutation_p.S57L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	495					lipid transport		lipid binding				0						CACAGGCATTGACACCTTGGA	0.662		NaN											0	0	0	0.00308	0	7	83				
SLC35B1	10237	broad.mit.edu	37	17	47784399	47784399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:47784399G>T	uc002iph.1	-	2	223	c.136C>A	c.(136-138)CAG>AAG	p.Q46K	SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.Q46K	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	46						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AACGTCTCCTGCTTGGCTCCT	0.403		NaN											1	0	2.85442e-18	0.010818	3.21475e-18	25	183				
ABCC3	8714	broad.mit.edu	37	17	48752728	48752728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:48752728G>A	uc002isl.2	+	20	2685	c.2605G>A	c.(2605-2607)GAA>AAA	p.E869K		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	869	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGCAGCGTTGGAAGGTGCAGA	0.522		NaN											0	0	0	0.000602	0	5	84				
EFCAB3	146779	broad.mit.edu	37	17	60470976	60470976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:60470976C>G	uc002izu.1	+	5	416	c.338C>G	c.(337-339)ACA>AGA	p.T113R	EFCAB3_uc010wpc.1_Missense_Mutation_p.T165R	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	113	EF-hand 2.						calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGTTCTAACAGATAAGAAT	0.408		NaN											0	0	0	0.004656	0	20	83				
DCAF7	10238	broad.mit.edu	37	17	61662585	61662585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:61662585G>C	uc002jbc.2	+	7	968	c.751G>C	c.(751-753)GAT>CAT	p.D251H	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.D51H	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	251					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1						GGTGATTCTAGATGTCCGGGT	0.443		NaN											0	0	0	0.006214	0	7	139				
CD79B	974	broad.mit.edu	37	17	62007656	62007656	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:62007656C>T	uc002jdq.1	-	3	291	c.208G>A	c.(208-210)GCC>ACC	p.A70T	CD79B_uc002jdo.1_Missense_Mutation_p.A44T|CD79B_uc002jdp.1_Missense_Mutation_p.A71T|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	70	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						TTGCCGGAGGCGCTGTTCATG	0.572		NaN	Mis|O		DLBCL								0	0	0	0.000602	0	5	58				
PRKCA	5578	broad.mit.edu	37	17	64637500	64637500	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:64637500A>T	uc002jfp.1	+	4	360	c.316A>T	c.(316-318)ATC>TTC	p.I106F	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	106	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAGTTCAAAATCCACACTTA	0.458		NaN											0	0	0	0.01441	0	49	216				
FDXR	2232	broad.mit.edu	37	17	72860379	72860379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:72860379G>A	uc002jly.2	-	9	980	c.893C>T	c.(892-894)TCG>TTG	p.S298L	FDXR_uc010wri.1_Missense_Mutation_p.S246L|FDXR_uc010wrj.1_Missense_Mutation_p.S296L|FDXR_uc002jlw.2_Missense_Mutation_p.S55L|FDXR_uc002jlx.2_Missense_Mutation_p.S304L|FDXR_uc002jmc.2_Missense_Mutation_p.S270L|FDXR_uc010wrk.1_Missense_Mutation_p.S329L|FDXR_uc010wrl.1_Missense_Mutation_p.S341L|FDXR_uc002jma.2_Missense_Mutation_p.S299L|FDXR_uc010wrm.1_Missense_Mutation_p.S258L|FDXR_uc002jlz.2_Missense_Mutation_p.S290L|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	298					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ACGGGAGGCCGATGCCTGGCG	0.692		NaN											0	0	0	0.008291	0	10	46				
GGA3	23163	broad.mit.edu	37	17	73239236	73239236	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:73239236A>T	uc002jni.1	-	6	445	c.436T>A	c.(436-438)TCT>ACT	p.S146T	GGA3_uc002jnj.1_Missense_Mutation_p.S113T|GGA3_uc010wrw.1_Missense_Mutation_p.S24T|GGA3_uc002jnk.1_Missense_Mutation_p.S74T|GGA3_uc010wrx.1_Missense_Mutation_p.S24T|GGA3_uc010wry.1_Missense_Mutation_p.S74T|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	146	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGTGGGTCAGACTGCACTATG	0.542		NaN											0	0	0	0.012319	0	19	151				
SRP68	6730	broad.mit.edu	37	17	74066468	74066468	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:74066468T>C	uc002jqk.1	-	2	277	c.242A>G	c.(241-243)CAG>CGG	p.Q81R	SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.Q81R	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	81					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CCTGTACCTCTGAAAATCTCC	0.373		NaN											0	0	0	0.003163	0	11	67				
MYOM1	8736	broad.mit.edu	37	18	3187533	3187533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:3187533C>A	uc002klp.2	-	5	1208	c.874G>T	c.(874-876)GAG>TAG	p.E292*	MYOM1_uc002klq.2_Nonsense_Mutation_p.E292*	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	292	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTTACATTCTCCTTCTCCCAA	0.433		NaN											1	0	3.86212e-05	0.008291	3.99378e-05	8	164				
LAMA1	284217	broad.mit.edu	37	18	7044769	7044769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:7044769G>A	uc002knm.2	-	7	1022	c.928C>T	c.(928-930)CAG>TAG	p.Q310*	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	310	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGCTGCTGATGGTACCCA	0.478		NaN											0	0	0	0.010818	0	28	176				
TUBB6	84617	broad.mit.edu	37	18	12326037	12326037	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:12326037G>A	uc002kqw.2	+	4	1294	c.1249G>A	c.(1249-1251)GAC>AAC	p.D417N	TUBB6_uc002kqv.2_Missense_Mutation_p.D345N|TUBB6_uc002kqx.2_Missense_Mutation_p.D380N|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	417					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CAACATGAACGACCTGGTATC	0.557		NaN											0	0	0	0.006214	0	9	201				
MIB1	57534	broad.mit.edu	37	18	19321721	19321721	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:19321721C>T	uc002ktq.2	+	1	177	c.177C>T	c.(175-177)AAC>AAT	p.N59N	MIB1_uc002ktp.2_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	59	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			CAGCTGCCAACTACCGCTGCT	0.721		NaN											0	0	0	0.001168	0	6	35				
DSC3	1825	broad.mit.edu	37	18	28581659	28581659	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:28581659C>G	uc002kwj.3	-	14	2315	c.2160G>C	c.(2158-2160)GGG>GGC	p.G720G	DSC3_uc002kwi.3_Silent_p.G720G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	720	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAAACGTTTCCCTTTAGTTG	0.284		NaN											0	0	0	0.00278	0	17	115				
DSG3	1830	broad.mit.edu	37	18	29049227	29049227	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:29049227T>G	uc002kws.2	+	12	1921	c.1812T>G	c.(1810-1812)CCT>CCG	p.P604P		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	604	Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCACAAGCCCTGGGACCAGGT	0.592		NaN											0	0	0	0.006214	0	7	91				
ATP8B1	5205	broad.mit.edu	37	18	55319836	55319836	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:55319836G>C	uc002lgw.2	-	24	3141	c.3141C>G	c.(3139-3141)CTC>CTG	p.L1047L	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1047	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GTATGAAGAAGAGGATCATCG	0.463		NaN							Byler_disease				0	0	0	0.001984	0	5	89				
VPS4B	9525	broad.mit.edu	37	18	61067362	61067362	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:61067362C>G	uc002lix.2	-	7	969	c.709G>C	c.(709-711)GAT>CAT	p.D237H	VPS4B_uc010dpx.2_Missense_Mutation_p.D237H|VPS4B_uc010dpy.2_Missense_Mutation_p.D119H|VPS4B_uc010dpz.1_Missense_Mutation_p.D119H	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	237					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						CAGAGAGAATCAATTTCATCA	0.343		NaN											0	0	0	0.006122	0	16	118				
PQLC1	80148	broad.mit.edu	37	18	77664069	77664069	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:77664069G>A	uc002lnl.2	-	6	895	c.723C>T	c.(721-723)GAC>GAT	p.D241D	PQLC1_uc010dre.2_Silent_p.D158D|PQLC1_uc002lnk.2_Silent_p.D223D|PQLC1_uc010xfm.1_3'UTR	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	241	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGATGGCCAGGTCCACCAGCA	0.682		NaN											0	0	0	0.001984	0	6	34				
PPAP2C	8612	broad.mit.edu	37	19	281413	281413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:281413T>C	uc002loi.2	-	6	941	c.842A>G	c.(841-843)TAT>TGT	p.Y281C	PPAP2C_uc002loh.2_Missense_Mutation_p.Y302C|PPAP2C_uc002loj.2_Missense_Mutation_p.Y225C	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	281					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGTATCCATAGTGGTTGTG	0.657		NaN											0	0	0	0.001168	0	5	32				
CNN2	1265	broad.mit.edu	37	19	1032581	1032581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1032581C>G	uc002lqu.2	+	4	639	c.276C>G	c.(274-276)ATC>ATG	p.I92M	CNN2_uc002lqt.1_Missense_Mutation_p.I92M|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.I92M|CNN2_uc010xgb.1_Missense_Mutation_p.I92M|CNN2_uc010xgc.1_Missense_Mutation_p.I92M	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	92	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAACTTCATCAAGGCCATGG	0.507		NaN											0	0	0	0.001855	0	9	102				
ABCA7	10347	broad.mit.edu	37	19	1058041	1058041	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1058041G>C	uc002lqw.3	+	36	5239	c.5008G>C	c.(5008-5010)GAG>CAG	p.E1670Q	ABCA7_uc002lqy.2_Missense_Mutation_p.E123Q|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1670					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGTGCTTGAGCTCTTCTC	0.572		NaN											0	0	0	0.006214	0	8	93				
FAM108A1	81926	broad.mit.edu	37	19	1881473	1881473	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1881473C>T	uc002lug.2	-	2	499	c.93G>A	c.(91-93)CCG>CCA	p.P31P	FAM108A1_uc002lud.2_Silent_p.P31P|FAM108A1_uc002lue.2_Silent_p.P31P|FAM108A1_uc002luf.2_Silent_p.P31P	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	31						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGCCTCCGGCGGCAGGA	0.711		NaN											0	0	0	0.000602	0	4	66				
THOP1	7064	broad.mit.edu	37	19	2810332	2810332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:2810332G>A	uc002lwj.2	+	10	1641	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M	THOP1_uc010xgz.1_Missense_Mutation_p.V375M|THOP1_uc002lwk.2_Missense_Mutation_p.V7M	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	496					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACCCACGTGGAGCGGGA	0.692		NaN											0	0	0	0.000602	0	4	55				
CLEC4G	339390	broad.mit.edu	37	19	7794268	7794268	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:7794268T>A	uc002mhp.3	-	9	935	c.866A>T	c.(865-867)AAA>ATA	p.K289I		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	289	Extracellular (Potential).					integral to membrane	protein binding|sugar binding				0						GTTGTGCCTTTTCTCACAGAT	0.622		NaN											0	0	0	0.006214	0	7	46				
DOCK6	57572	broad.mit.edu	37	19	11313325	11313325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:11313325C>T	uc002mqs.3	-	42	5337	c.5296G>A	c.(5296-5298)GAG>AAG	p.E1766K	DOCK6_uc002mqr.3_Missense_Mutation_p.E166K|DOCK6_uc010xlq.1_Missense_Mutation_p.E1105K	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1766	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AACTCCTGCTCATCCAGGTCA	0.622		NaN											0	0	0	0.013537	0	12	220				
JAK3	3718	broad.mit.edu	37	19	17942037	17942037	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:17942037C>G	uc002nhn.3	-	21	3078	c.2978G>C	c.(2977-2979)TGG>TCG	p.W993S	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.W993S	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	993	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GGTTCCCCACCAGAAAATGGG	0.368		2	Mis		acute megakaryocytic leukemia|								0	0	0	0.00245	0	10	74				
COMP	1311	broad.mit.edu	37	19	18898425	18898425	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:18898425C>T	uc002nke.2	-	10	1046	c.1010G>A	c.(1009-1011)CGC>CAC	p.R337H	COMP_uc002nkd.2_Missense_Mutation_p.R304H|COMP_uc010xqj.1_Missense_Mutation_p.R284H	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	337	TSP type-3 3.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GTCCGTGTTGCGCTGGTCTGG	0.612		NaN											0	0	0	0.012319	0	21	160				
ZNF430	80264	broad.mit.edu	37	19	21239443	21239443	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:21239443A>G	uc002npj.2	+	5	439	c.329A>G	c.(328-330)TAT>TGT	p.Y110C	ZNF430_uc002npk.2_Missense_Mutation_p.Y109C	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						TCAGTTACATATTCTCATTTT	0.308		NaN											0	0	0	0.004482	0	7	63				
ZNF492	57615	broad.mit.edu	37	19	22836772	22836772	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:22836772G>C	uc002nqw.3	+	3	329	c.85G>C	c.(85-87)GAA>CAA	p.E29Q		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAGGAAAAGAACCTTGGAA	0.423		NaN											0	0	0	0.008291	0	7	160				
MLL4	9757	broad.mit.edu	37	19	36214059	36214059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:36214059G>A	uc010eei.2	+	6	2885	c.2885G>A	c.(2884-2886)CGC>CAC	p.R962H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	962	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGAAGATGCGCATGGCTCGA	0.637		NaN											0	0	0	0.008291	0	7	69		Valid		
ZNF383	163087	broad.mit.edu	37	19	37733704	37733704	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:37733704A>C	uc002oft.1	+	8	1146	c.566A>C	c.(565-567)CAG>CCG	p.Q189P	ZNF383_uc002ofs.1_Missense_Mutation_p.Q124P|ZNF383_uc002ofu.1_Missense_Mutation_p.Q189P	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.Q189*(1)		ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAACATCAGAGAATTCAT	0.338		NaN											0	0	0	0.009096	0	4	49				
CATSPERG	57828	broad.mit.edu	37	19	38861352	38861352	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38861352A>T	uc002oih.3	+	29	3487	c.3400A>T	c.(3400-3402)ATG>TTG	p.M1134L	CATSPERG_uc002oig.3_Missense_Mutation_p.M1094L|CATSPERG_uc002oif.3_Missense_Mutation_p.M774L|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1134	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						ACATTCCAGGATGGGCTCCAT	0.552		NaN											0	0	0	0.006122	0	15	124				
FAM98C	147965	broad.mit.edu	37	19	38896259	38896259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38896259G>A	uc002oin.1	+	6	753	c.734G>A	c.(733-735)TGG>TAG	p.W245*	FAM98C_uc002oio.1_Nonsense_Mutation_p.W219*|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	245										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTTTCCACTGGAGTGACCGG	0.612		NaN											0	0	0	0.001984	0	6	71				
PLD3	23646	broad.mit.edu	37	19	40872687	40872687	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:40872687G>A	uc002onm.3	+	5	508	c.110G>A	c.(109-111)CGC>CAC	p.R37H	PLD3_uc002onj.3_Missense_Mutation_p.R37H|PLD3_uc002onk.3_Missense_Mutation_p.R37H|PLD3_uc002onl.3_Missense_Mutation_p.R37H|PLD3_uc002onn.2_Missense_Mutation_p.R37H|PLD3_uc002ono.2_Silent_p.P66P	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	37	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CAGAAAGCCCGCTGGGTCCTG	0.627		NaN											0	0	0	0.001168	0	5	54				
ERCC2	2068	broad.mit.edu	37	19	45867571	45867571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:45867571G>T	uc002pbj.2	-	9	784	c.737C>A	c.(736-738)TCC>TAC	p.S246Y	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.S168Y|ERCC2_uc002pbk.2_Missense_Mutation_p.S222Y|ERCC2_uc002pbl.3_Missense_Mutation_p.S222Y|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	246	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCTCATGGAGTCGATGCA	0.682		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				1	0	3.09899e-07	0.004482	3.27916e-07	8	76		Valid		
CCDC8	83987	broad.mit.edu	37	19	46915949	46915949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46915949C>A	uc002pep.2	-	1	971	c.119G>T	c.(118-120)CGG>CTG	p.R40L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctgggtcagccgctcccgaaa	0.104		NaN											1	0	5.50884e-06	0.013537	5.78873e-06	10	107				
PNMAL2	57469	broad.mit.edu	37	19	46998670	46998670	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46998670T>C	uc002pes.2	-	1	500	c.53A>G	c.(52-54)CAC>CGC	p.H18R	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	18										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagggccctgtgcgcgtccac	0.154		NaN											0	0	0	0.008291	0	7	59				
HRC	3270	broad.mit.edu	37	19	49657934	49657934	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:49657934C>G	uc002pmv.2	-	1	748	c.561G>C	c.(559-561)GGG>GGC	p.G187G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	187	4 X tandem repeats, acidic.|1-1.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCATCTTCCCCATCATGGC	0.463		NaN											0	0	0	0.004482	0	8	97				
DNAJC27	51277	broad.mit.edu	37	2	25180826	25180826	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:25180826G>A	uc002rft.1	-	4	309	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	DNAJC27_uc010ykn.1_Silent_p.Y15Y|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.Y86Y	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	86					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						GTGTGTCCTTGTAAAACTCAT	0.418		NaN											0	0	0	0.001168	0	6	56				
C2orf16	84226	broad.mit.edu	37	2	27803662	27803662	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:27803662A>G	uc002rkz.3	+	1	4274	c.4223A>G	c.(4222-4224)GAC>GGC	p.D1408G	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1408										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATCAAAAGAGACAAGAGGTCA	0.488		NaN											0	0	0	0.005443	0	28	111				
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:28828806G>T	uc002rmb.1	+	42	3048	c.3048G>T	c.(3046-3048)TGG>TGT	p.W1016C	PLB1_uc010ezj.1_Missense_Mutation_p.W1005C|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1016	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522		NaN											1	0	6.12954e-19	0.004656	6.92044e-19	24	185				
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:54080838G>C	uc002rxo.3	-	2	1327	c.1056C>G	c.(1054-1056)TTC>TTG	p.F352L	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	352	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443		NaN											0	0	0	0.010504	0	20	91				
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:70890760C>T	uc002sgz.2	-	16	2443	c.1978G>A	c.(1978-1980)GAA>AAA	p.E660K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E354K|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	660					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CTGAGGATTTCCTCTGCCGTC	0.577		NaN											0	0	0	0.004289	0	33	141				
ALMS1	7840	broad.mit.edu	37	2	73651764	73651764	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:73651764T>A	uc002sje.1	+	6	1085	c.974T>A	c.(973-975)ATT>AAT	p.I325N	ALMS1_uc002sjf.1_Missense_Mutation_p.I282N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	324					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAAGAGACTATTTCGTCTGTT	0.418		NaN											0	0	0	0.004482	0	9	43				
HTRA2	27429	broad.mit.edu	37	2	74757342	74757342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:74757342C>T	uc002smi.1	+	1	811	c.209C>T	c.(208-210)GCA>GTA	p.A70V	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A70V|HTRA2_uc002smk.1_Missense_Mutation_p.A70V|HTRA2_uc002sml.1_Missense_Mutation_p.A70V|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	70					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GAACCCCGAGCATGCCTGACG	0.657		NaN											0	0	0	0.009096	0	4	14				
LRRTM4	80059	broad.mit.edu	37	2	77746503	77746503	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:77746503C>G	uc002snr.2	-	3	907	c.492G>C	c.(490-492)TTG>TTC	p.L164F	LRRTM4_uc002snq.2_Missense_Mutation_p.L164F|LRRTM4_uc002sns.2_Missense_Mutation_p.L164F|LRRTM4_uc002snt.2_Missense_Mutation_p.L165F	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	164	LRR 5.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		AGTTAGATCTCAAGTGCAAAA	0.413		NaN											0	0	0	0.006214	0	8	80				
ZNF2	7549	broad.mit.edu	37	2	95847683	95847683	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:95847683T>C	uc002suf.2	+	6	1569	c.1107T>C	c.(1105-1107)TAT>TAC	p.Y369Y	ZNF2_uc002sug.2_Silent_p.Y327Y|ZNF2_uc010yue.1_Silent_p.Y332Y|ZNF2_uc010fhs.2_Silent_p.Y290Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	369	C2H2-type 8.			Y -> H (in Ref. 2; AAH05068).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACAAGCCATATGAATGCAGCG	0.552		NaN											0	0	0	0.011902	0	31	169				
CNNM4	26504	broad.mit.edu	37	2	97427544	97427544	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:97427544A>T	uc002swx.2	+	1	906	c.808A>T	c.(808-810)ATG>TTG	p.M270L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	270	Helical; (Potential).|DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						GTCCGGCCTCATGGCGGTGGC	0.592		NaN											0	0	0	0.00245	0	12	176				
AFF3	3899	broad.mit.edu	37	2	100170804	100170804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:100170804C>G	uc002tag.2	-	23	3764	c.3528G>C	c.(3526-3528)GAG>GAC	p.E1176D	AFF3_uc002taf.2_Missense_Mutation_p.E1201D	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGTCGGCCATCTCCCAGTAGT	0.507		NaN											0	0	0	0.008291	0	10	190				
IL1B	3553	broad.mit.edu	37	2	113590327	113590327	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:113590327G>C	uc002tii.1	-	5	465	c.378C>G	c.(376-378)CTC>CTG	p.L126L	IL1B_uc002tih.1_Silent_p.L95L	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	126					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTGAGTCCCGGAGCGTGCAGT	0.478		NaN											0	0	0	0.008871	0	14	157				
NCKAP5	344148	broad.mit.edu	37	2	133887605	133887606	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:133887605_133887606GG>TT	uc002ttp.2	-	6	659_660	c.285_286CC>AA	c.(283-288)ACCCTA>ACAATA	p.L96I	NCKAP5_uc002ttq.2_Missense_Mutation_p.L96I|NCKAP5_uc002ttt.1_Missense_Mutation_p.L96I|NCKAP5_uc002tts.1_Missense_Mutation_p.L71I	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	96	Potential.						protein binding				0						TCAGACTCTAGGGTCACCTCCT	0.48		NaN											0	0	0	0.004672	0	5	28				
NEB	4703	broad.mit.edu	37	2	152536298	152536298	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:152536298A>G	uc010fnx.2	-	32	3383	c.3192T>C	c.(3190-3192)TAT>TAC	p.Y1064Y		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1064	Nebulin 26.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCAGGTCATATCCCTTCT	0.443		NaN											0	0	0	0.001855	0	10	117				
TBR1	10716	broad.mit.edu	37	2	162273127	162273127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:162273127C>T	uc002ubw.1	+	1	508	c.206C>T	c.(205-207)CCT>CTT	p.P69L	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GACAATTTTCCTGACTCCAAG	0.488		NaN											0	0	0	0.013537	0	11	72				
DHRS9	10170	broad.mit.edu	37	2	169948457	169948457	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:169948457G>A	uc002uep.2	+	7	2234	c.730G>A	c.(730-732)GAA>AAA	p.E244K	DHRS9_uc002ueq.2_Missense_Mutation_p.E244K|DHRS9_uc010zdc.1_Missense_Mutation_p.E304K|DHRS9_uc010zdd.1_Missense_Mutation_p.E244K|DHRS9_uc010zde.1_Missense_Mutation_p.E244K	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	244					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						AGGTTACATTGAAAAAAGTGA	0.403		NaN											0	0	0	0.009096	0	4	43				
MTX2	10651	broad.mit.edu	37	2	177161616	177161616	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:177161616A>G	uc002ukx.2	+	2	304	c.69A>G	c.(67-69)ACA>ACG	p.T23T	MTX2_uc002ukw.2_Silent_p.T13T	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	23					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			AAAATGCTACATTATATCAGC	0.313		NaN											0	0	0	0.003954	0	21	150				
TTN	7273	broad.mit.edu	37	2	179635334	179635334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:179635334C>G	uc010zfg.1	-	35	8409	c.8185G>C	c.(8185-8187)GAG>CAG	p.E2729Q	TTN_uc010zfh.1_Missense_Mutation_p.E2683Q|TTN_uc010zfi.1_Missense_Mutation_p.E2683Q|TTN_uc010zfj.1_Missense_Mutation_p.E2683Q|TTN_uc002unb.2_Missense_Mutation_p.E2729Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2729							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTAAGCTCGACAGTGAAA	0.378		NaN											0	0	0	0.007413	0	16	136				
SLC39A10	57181	broad.mit.edu	37	2	196581361	196581361	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:196581361G>C	uc002utg.3	+	7	1911	c.1697G>C	c.(1696-1698)GGA>GCA	p.G566A	SLC39A10_uc002uth.3_Missense_Mutation_p.G566A|SLC39A10_uc010zgp.1_Missense_Mutation_p.G116A	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	566					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATAAATACAGGAACTGATGAC	0.323		NaN											0	0	0	0.013537	0	11	82				
FN1	2335	broad.mit.edu	37	2	216245603	216245603	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:216245603A>G	uc002vfa.2	-	33	5631	c.5365T>C	c.(5365-5367)TAC>CAC	p.Y1789H	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.Y1789H|FN1_uc002vfe.2_Missense_Mutation_p.Y1698H|FN1_uc002vff.2_Missense_Mutation_p.Y1698H|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.Y1789H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Missense_Mutation_p.Y151H|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1788	Heparin-binding 2.|Fibronectin type-III 13.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACTGTGTACTCAGAACCC	0.542		NaN											0	0	0	0.010504	0	22	127				
ARPC2	10109	broad.mit.edu	37	2	219110212	219110212	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219110212C>G	uc002vhd.2	+	8	731	c.619C>G	c.(619-621)CTG>GTG	p.L207V	ARPC2_uc002vhe.2_Missense_Mutation_p.L207V|ARPC2_uc002vhf.2_Missense_Mutation_p.L93V	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	207					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGAACCTCCTCTGGAGCTGAA	0.527		NaN											0	0	0	0.010729	0	11	99				
WNT10A	80326	broad.mit.edu	37	2	219746934	219746934	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219746934C>T	uc002vjd.1	+	2	628	c.165C>T	c.(163-165)CTC>CTT	p.L55L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCGTGCTCAATGCCAACA	0.617		NaN											0	0	0	0.00278	0	19	67				
COL4A3	1285	broad.mit.edu	37	2	228172496	228172496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:228172496G>A	uc002vom.1	+	48	4485	c.4323G>A	c.(4321-4323)TGG>TGA	p.W1441*	COL4A3_uc002von.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002voo.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1441	Epitope recognized by Goodpasture antibodies.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGCAACCTGGACAACGAGAG	0.468		NaN											0	0	0	0.00245	0	13	88				
ALPI	248	broad.mit.edu	37	2	233321093	233321093	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:233321093G>A	uc002vst.3	+	2	179	c.102G>A	c.(100-102)CAG>CAA	p.Q34Q	ALPI_uc002vsu.3_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	34					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAACCGCCAGGCAGCTGAGG	0.627		NaN											0	0	0	0.007413	0	17	79				
MTERFD2	130916	broad.mit.edu	37	2	242035577	242035577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242035577C>G	uc002wan.1	-	3	1562	c.1069G>C	c.(1069-1071)GAG>CAG	p.E357Q	MTERFD2_uc010zoj.1_Missense_Mutation_p.E140Q	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	328										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTGCTGCTCTCAGACTCCTCC	0.333		NaN											0	0	0	0.008291	0	6	55				
ING5	84289	broad.mit.edu	37	2	242662468	242662468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242662468G>A	uc002wcd.2	+	6	622	c.597G>A	c.(595-597)ATG>ATA	p.M199I		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	199	PHD-type.				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ATGGGGAGATGATTGGCTGTG	0.602		NaN											0	0	0	0.000602	0	5	82				
ZNF343	79175	broad.mit.edu	37	20	2463828	2463828	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:2463828G>A	uc002wge.1	-	6	2267	c.1779C>T	c.(1777-1779)ATC>ATT	p.I593I	ZNF343_uc010gao.1_Silent_p.I593I|ZNF343_uc002wgd.1_Silent_p.I503I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	593	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCTGGTGTCTGATGAGATTTG	0.507		NaN											0	0	0	0.010729	0	9	75				
BPIL3	128859	broad.mit.edu	37	20	31624294	31624294	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:31624294G>C	uc010zuc.1	+	7	621	c.621G>C	c.(619-621)CTG>CTC	p.L207L	BPIL3_uc010zud.1_Silent_p.L146L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	207						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						AATATGTTCTGATGTCCGCAC	0.587		NaN											0	0	0	0.009535	0	24	319				
TRPC4AP	26133	broad.mit.edu	37	20	33593524	33593524	+	Missense_Mutation	SNP	C	C	T	rs143166417	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:33593524C>T	uc002xbk.2	-	16	1944	c.1910G>A	c.(1909-1911)CGA>CAA	p.R637Q	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R228Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R629Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R598Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	637					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTTTTCAAATCGGTCCAGGGA	0.507		NaN											0	0	0	0.006122	0	13	108				
PHF20	51230	broad.mit.edu	37	20	34457364	34457364	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:34457364G>T	uc002xek.1	+	7	924	c.813G>T	c.(811-813)GTG>GTT	p.V271V	PHF20_uc002xei.1_Silent_p.V271V|PHF20_uc010gfo.1_Silent_p.V271V|PHF20_uc002xej.1_Silent_p.V155V|PHF20_uc002xel.1_Silent_p.V133V	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TGGTAGCTGTGGATTCAAACT	0.294		NaN											1	0	3.27435e-08	0.00245	3.49725e-08	14	68				
CHD6	84181	broad.mit.edu	37	20	40033522	40033522	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40033522C>A	uc002xka.1	-	37	8037	c.7859G>T	c.(7858-7860)GGA>GTA	p.G2620V	CHD6_uc002xjz.1_Missense_Mutation_p.G157V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2620					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTAAATGAGTCCAGGAGATAC	0.512		NaN											1	0	0.00010058	0.013537	0.000103538	13	56				
CHD6	84181	broad.mit.edu	37	20	40118569	40118569	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40118569C>A	uc002xka.1	-	12	1707	c.1529G>T	c.(1528-1530)GGC>GTC	p.G510V	CHD6_uc002xkd.2_Missense_Mutation_p.G488V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	510	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GAGAAAAGGGCCGTGGATTCC	0.493		NaN											1	0	4.59853e-10	0.005443	5.00558e-10	27	119				
PCK1	5105	broad.mit.edu	37	20	56136669	56136669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:56136669C>T	uc002xyn.3	+	2	365	c.202C>T	c.(202-204)CGG>TGG	p.R68W	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	68					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCCTCAGGCGGCTGAAGAA	0.617		NaN											0	0	0	0.001855	0	12	110				
LAMA5	3911	broad.mit.edu	37	20	60904247	60904247	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:60904247C>T	uc002ycq.2	-	33	4249	c.4182G>A	c.(4180-4182)CTG>CTA	p.L1394L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1394	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATTTATCCAGGGGCTCCT	0.637		NaN											0	0	0	0.014323	0	21	120				
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:28296403G>A	uc002ymg.2	-	8	3491	c.2762C>T	c.(2761-2763)GCG>GTG	p.A921V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	921	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTGCTTAAACGCAGAAGGCCT	0.483		NaN											0	0	0	0.010729	0	10	68				
RNF160	26046	broad.mit.edu	37	21	30331900	30331900	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:30331900C>A	uc002ymr.2	-	13	2624	c.2611G>T	c.(2611-2613)GAT>TAT	p.D871Y		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	825							ligase activity|zinc ion binding				0						TAGGCCACATCACAGATAAAA	0.343		NaN											1	0	3.62473e-10	0.012319	3.95504e-10	18	102				
KRTAP13-2	337959	broad.mit.edu	37	21	31744204	31744204	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:31744204G>T	uc002ynz.3	-	1	354	c.328C>A	c.(328-330)CTG>ATG	p.L110M		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	110						intermediate filament					0						CCATAGCCCAGGGAGCGGCAG	0.597		NaN											1	0	1.12685e-05	0.004482	1.17866e-05	7	60				
BRWD1	54014	broad.mit.edu	37	21	40650683	40650683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:40650683G>A	uc002yxk.1	-	10	1128	c.989C>T	c.(988-990)TCT>TTT	p.S330F	BRWD1_uc002yxl.2_Missense_Mutation_p.S330F|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S50F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	330	WD 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTAAAAGAAGAACAAAGCAT	0.328		NaN											0	0	0	0.004482	0	6	110				
DGCR8	54487	broad.mit.edu	37	22	20074169	20074169	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:20074169A>G	uc002zri.2	+	2	1033	c.683A>G	c.(682-684)GAC>GGC	p.D228G	DGCR8_uc010grz.2_Missense_Mutation_p.D228G|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	228	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GTTCAGAGAGACAGAGTGGAT	0.478		NaN											0	0	0	0.009718	0	39	261				
TOP3B	8940	broad.mit.edu	37	22	22314027	22314027	+	Missense_Mutation	SNP	C	C	T	rs138357708		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:22314027C>T	uc002zvs.2	-	15	2171	c.1736G>A	c.(1735-1737)CGC>CAC	p.R579H	TOP3B_uc010gtm.1_Missense_Mutation_p.R124H|TOP3B_uc002zvr.2_Missense_Mutation_p.R304H|TOP3B_uc010gtl.2_Missense_Mutation_p.R579H|TOP3B_uc002zvt.3_Missense_Mutation_p.R579H	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	579					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGGACCTGGCGGTAGTCGGC	0.622		NaN											0	0	0	0.010504	0	20	211				
GNAZ	2781	broad.mit.edu	37	22	23438386	23438386	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23438386T>C	uc002zwu.1	+	2	1041	c.504T>C	c.(502-504)TAT>TAC	p.Y168Y	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	168						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGCTGACTATATCCCCACTG	0.607		NaN											0	0	0	0.010729	0	11	90				
RAB36	9609	broad.mit.edu	37	22	23500179	23500179	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23500179T>A	uc002zwv.1	+	7	633	c.593T>A	c.(592-594)GTG>GAG	p.V198E	RAB36_uc010gtw.1_Missense_Mutation_p.V176E	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	198					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGGTGTCTAGTGATCATCACG	0.622		NaN											0	0	0	0.004289	0	28	249				
EMID1	129080	broad.mit.edu	37	22	29622494	29622494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:29622494G>A	uc003aen.2	+	5	488	c.413G>A	c.(412-414)AGC>AAC	p.S138N	EMID1_uc003aem.2_Missense_Mutation_p.S140N|EMID1_uc003aeo.2_Missense_Mutation_p.S140N|EMID1_uc003aep.2_Missense_Mutation_p.S140N	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	138						collagen					0						CTCAACTGCAGCAAAGTGTCA	0.632		NaN											0	0	0	0.006122	0	15	55				
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41553402G>A	uc003azl.3	+	18	3886	c.3491G>A	c.(3490-3492)TGT>TAT	p.C1164Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GGATACTGTTGTGGCAGAAAG	0.393		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.004878	0	30	121		Valid		
ACO2	50	broad.mit.edu	37	22	41918881	41918881	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41918881T>A	uc003bac.2	+	10	1208	c.1186T>A	c.(1186-1188)TCA>ACA	p.S396T	ACO2_uc003bad.2_Missense_Mutation_p.S421T	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	396					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						TATGGGGCGCTCAGCAGCTGT	0.572		NaN											0	0	0	0.008871	0	19	78				
TTLL1	25809	broad.mit.edu	37	22	43459894	43459894	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:43459894C>T	uc003bdi.2	-	7	913	c.672G>A	c.(670-672)GTG>GTA	p.V224V	TTLL1_uc010gzh.2_Silent_p.V224V|TTLL1_uc003bdj.2_Silent_p.V110V|TTLL1_uc003bdh.2_Silent_p.V186V	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	224	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GGGTGTATTTCACTGTGCAGA	0.458		NaN											0	0	0	0.004482	0	6	159				
SMC1B	27127	broad.mit.edu	37	22	45802460	45802460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:45802460C>T	uc003bgc.2	-	4	548	c.496G>A	c.(496-498)GGA>AGA	p.G166R	SMC1B_uc003bgd.2_Missense_Mutation_p.G166R|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	166	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATATTCTCCTATAAGCTCT	0.363		NaN											0	0	0	0.000602	0	5	57				
CHL1	10752	broad.mit.edu	37	3	403383	403383	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:403383T>A	uc003bou.2	+	12	1531	c.1260T>A	c.(1258-1260)GAT>GAA	p.D420E	CHL1_uc003bot.2_Missense_Mutation_p.D436E|CHL1_uc003bow.1_Missense_Mutation_p.D420E|CHL1_uc011asi.1_Missense_Mutation_p.D436E	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	420	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCAAATAGATGTCCGTCCAT	0.353		NaN											0	0	0	0.006122	0	17	161				
FANCD2	2177	broad.mit.edu	37	3	10133873	10133873	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:10133873A>C	uc003buw.2	+	38	3864	c.3786A>C	c.(3784-3786)GAA>GAC	p.E1262D	FANCD2_uc003bux.1_Missense_Mutation_p.E1262D|FANCD2_uc003buy.1_Missense_Mutation_p.E1262D|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1262					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATTCATGAAGAGAAACTCC	0.418		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	64	303				
SGOL1	151648	broad.mit.edu	37	3	20215950	20215950	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:20215950C>G	uc003cbs.2	-	6	1260	c.1073G>C	c.(1072-1074)AGA>ACA	p.R358T	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.R358T|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.R358T|SGOL1_uc003cca.2_Missense_Mutation_p.R358T|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	358					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						GTTTTCTTCTCTATTAGAGTC	0.398		NaN											0	0	0	0.001855	0	13	109				
MYD88	4615	broad.mit.edu	37	3	38180222	38180222	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:38180222G>A	uc003chx.2	+	1	254	c.70G>A	c.(70-72)GCG>ACG	p.A24T	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.A24T|MYD88_uc011ayi.1_Missense_Mutation_p.A24T|MYD88_uc011ayj.1_Missense_Mutation_p.A24T|MYD88_uc011ayk.1_Missense_Mutation_p.A24T|MYD88_uc011ayl.1_Missense_Mutation_p.A24T	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	11					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGCGGGGTCTGCGGCCCCGGT	0.687		NaN	Mis 		ABC-DLBCL								0	0	0	0.006214	0	9	43				
XIRP1	165904	broad.mit.edu	37	3	39229444	39229444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:39229444G>C	uc003cjk.1	-	2	1714	c.1493C>G	c.(1492-1494)TCT>TGT	p.S498C	XIRP1_uc003cji.2_Missense_Mutation_p.S498C|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	498							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTGCTAACAGAGGTCAGGGC	0.592		NaN											0	0	0	0.004482	0	8	167				
ZNF167	55888	broad.mit.edu	37	3	44612226	44612226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44612226C>T	uc010hin.2	+	6	2012	c.1624C>T	c.(1624-1626)CAG>TAG	p.Q542*	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q542*|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	542	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CATTGACCATCAGAGAATCCA	0.453		NaN											0	0	0	0.006122	0	15	160				
ZNF35	7584	broad.mit.edu	37	3	44700861	44700861	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44700861T>C	uc003cnq.2	+	4	1227	c.1006T>C	c.(1006-1008)TGT>CGT	p.C336R	ZNF35_uc003cnr.2_Missense_Mutation_p.C176R	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	336	C2H2-type 5.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ATGCTATGAATGTAATGAATG	0.428		NaN											0	0	0	0.001168	0	6	60				
SCAP	22937	broad.mit.edu	37	3	47458631	47458631	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:47458631G>A	uc003crh.1	-	18	3292	c.3037C>T	c.(3037-3039)CTG>TTG	p.L1013L	SCAP_uc011baz.1_Silent_p.L757L|SCAP_uc003crg.2_Silent_p.L620L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1013	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 3.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAGAACACCAGAGCGGTAATG	0.587		NaN											0	0	0	0.00245	0	13	60				
COL7A1	1294	broad.mit.edu	37	3	48605567	48605567	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48605567C>T	uc003ctz.2	-	105	7832	c.7831G>A	c.(7831-7833)GGA>AGA	p.G2611R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2611	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTTTTCTCCTCGGATACCA	0.532		NaN											0	0	0	0.010504	0	16	83				
CELSR3	1951	broad.mit.edu	37	3	48687965	48687965	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48687965G>T	uc003cul.2	-	16	6701	c.6420C>A	c.(6418-6420)CCC>CCA	p.P2140P	CELSR3_uc003cuf.1_Silent_p.P2210P|CELSR3_uc010hkg.2_Silent_p.P118P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2140	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTTGTCTGGGGCCACCACA	0.617		NaN											1	0	5.9392e-07	0.001168	6.26992e-07	5	51				
DOCK3	1795	broad.mit.edu	37	3	51308411	51308411	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51308411G>T	uc011bds.1	+	24	2544	c.2521G>T	c.(2521-2523)GTG>TTG	p.V841L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	841						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCAGGACAGTGGATAGCCG	0.547		NaN											1	0	6.12954e-19	0.004656	6.92044e-19	22	196				
GRM2	2912	broad.mit.edu	37	3	51750145	51750145	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51750145G>A	uc010hlv.2	+	4	2595	c.2356G>A	c.(2356-2358)GAC>AAC	p.D786N	GRM2_uc003dbo.3_Missense_Mutation_p.D168N|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	786	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CACCTCCAGTGACTACCGGGT	0.532		NaN											0	0	0	0.009096	0	4	68				
SEMA3G	56920	broad.mit.edu	37	3	52473771	52473771	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52473771G>C	uc003dea.1	-	12	1392	c.1392C>G	c.(1390-1392)CTC>CTG	p.L464L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	464	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGATGACTTTGAGCACAGACC	0.632		NaN											0	0	0	0.00308	0	7	61				
PRKCD	5580	broad.mit.edu	37	3	53217515	53217515	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:53217515T>C	uc003dgl.2	+	9	1058	c.705T>C	c.(703-705)GTT>GTC	p.V235V	PRKCD_uc003dgm.2_Silent_p.V235V|PRKCD_uc010hmt.1_Silent_p.V7V	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	235	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCTTCAAGGTTCACAACTACA	0.592		NaN											0	0	0	0.012319	0	19	121				
C3orf63	23272	broad.mit.edu	37	3	56674101	56674101	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:56674101G>A	uc003did.3	-	16	2778	c.2677C>T	c.(2677-2679)CCC>TCC	p.P893S	C3orf63_uc003dic.3_Missense_Mutation_p.P497S|C3orf63_uc003die.3_Missense_Mutation_p.P893S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	893										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TGTTCAATGGGAACACTGGGA	0.323		NaN											0	0	0	0.001984	0	4	41				
DZIP3	9666	broad.mit.edu	37	3	108355537	108355537	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:108355537T>G	uc003dxd.2	+	11	1415	c.993T>G	c.(991-993)CCT>CCG	p.P331P	DZIP3_uc003dxf.1_Silent_p.P331P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P331P|DZIP3_uc003dxg.1_Silent_p.P54P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	331					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTGATGTACCTGGAATTGTTA	0.313		NaN											0	0	0	0.003271	0	28	169				
SLC9A10	285335	broad.mit.edu	37	3	111936346	111936346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:111936346C>T	uc003dyu.2	-	15	1955	c.1733G>A	c.(1732-1734)AGA>AAA	p.R578K	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R530K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	578					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TAGTAGTTTTCTAGCAAAGGT	0.303		NaN											0	0	0	0.001168	0	5	82				
GSK3B	2932	broad.mit.edu	37	3	119720941	119720941	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:119720941T>C	uc003edo.2	-	2	1217	c.234A>G	c.(232-234)TCA>TCG	p.S78S	GSK3B_uc003edn.2_Silent_p.S78S	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	78	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CCAGTTCTCCTGAATCACAAA	0.398		NaN											0	0	0	0.01441	0	42	224				
SEMA5B	54437	broad.mit.edu	37	3	122667521	122667521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:122667521C>T	uc003efz.1	-	3	464	c.160G>A	c.(160-162)GCA>ACA	p.A54T	SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A54T|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	54	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCCTCTGCAGTCCTAGCT	0.612		NaN											0	0	0	0.006214	0	6	52				
SNX4	8723	broad.mit.edu	37	3	125166629	125166629	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:125166629C>T	uc003eib.2	-	14	1389	c.1347G>A	c.(1345-1347)AAG>AAA	p.K449K	SNX4_uc011bkf.1_Silent_p.K304K	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	449					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AGGATTACATCTTGCTAAAGC	0.313		NaN											0	0	0	0.014323	0	17	118				
A4GNT	51146	broad.mit.edu	37	3	137843160	137843160	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:137843160C>T	uc003ers.2	-	3	1171	c.969G>A	c.(967-969)CTG>CTA	p.L323L		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	323	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						GGCCTTTAATCAGGTCCCTGT	0.522		NaN											0	0	0	0.001984	0	7	114				
ZBTB38	253461	broad.mit.edu	37	3	141161237	141161237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141161237G>A	uc003etw.2	+	8	989	c.7G>A	c.(7-9)GTC>ATC	p.V3I	ZBTB38_uc010hun.2_5'UTR|ZBTB38_uc010huo.2_Missense_Mutation_p.V3I|ZBTB38_uc003ety.2_Missense_Mutation_p.V3I|ZBTB38_uc010hup.2_Missense_Mutation_p.V4I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	3					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCAGATGACAGTCATGTCCCT	0.438		NaN											0	0	0	0.010504	0	19	121				
ZBTB38	253461	broad.mit.edu	37	3	141163550	141163550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141163550A>G	uc003etw.2	+	8	3302	c.2320A>G	c.(2320-2322)ATT>GTT	p.I774V	ZBTB38_uc010hun.2_Missense_Mutation_p.I771V|ZBTB38_uc010huo.2_Missense_Mutation_p.I774V|ZBTB38_uc003ety.2_Missense_Mutation_p.I774V|ZBTB38_uc010hup.2_Missense_Mutation_p.I775V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	774					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ACCCAAAAGCATTAAGGAGAA	0.468		NaN											0	0	0	0.00308	0	6	39				
ATR	545	broad.mit.edu	37	3	142226809	142226809	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:142226809C>T	uc003eux.3	-	28	5117	c.4995G>A	c.(4993-4995)AAG>AAA	p.K1665K		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1665	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TATTTTGCTTCTTTTCTGTAA	0.348		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006214	0	8	48				
HPS3	84343	broad.mit.edu	37	3	148872982	148872982	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:148872982G>A	uc003ewu.1	+	8	1629	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	HPS3_uc011bnq.1_Missense_Mutation_p.V332M	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	497						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATCTCACCAGTGCAGCTGTA	0.333		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.004007	0	14	84				
CCNL1	57018	broad.mit.edu	37	3	156866286	156866286	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:156866286T>A	uc003fbf.2	-	11	1924	c.1325A>T	c.(1324-1326)AAT>ATT	p.N442I	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.N236I|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	442					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACCATGATTATGATGTCT	0.423		NaN											0	0	0	0.014323	0	21	124				
SMC4	10051	broad.mit.edu	37	3	160138558	160138558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:160138558G>C	uc003fdh.2	+	13	2001	c.1888G>C	c.(1888-1890)GAC>CAC	p.D630H	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D394H|SMC4_uc003fdi.2_Missense_Mutation_p.D605H|SMC4_uc003fdj.2_Missense_Mutation_p.D630H|SMC4_uc010hwd.2_Missense_Mutation_p.D630H|SMC4_uc003fdl.2_Missense_Mutation_p.D333H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	630	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAAATACGACGTGGCTAT	0.373		NaN											0	0	0	0.010504	0	18	133				
CCDC39	339829	broad.mit.edu	37	3	180359944	180359944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:180359944T>G	uc010hxe.2	-	13	1826	c.1711A>C	c.(1711-1713)ACT>CCT	p.T571P	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	571	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTCTCGAGTACGCTTAACT	0.323		NaN											0	0	0	0.010729	0	10	24				
KLHL6	89857	broad.mit.edu	37	3	183217612	183217612	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:183217612T>A	uc003flr.2	-	4	971	c.913A>T	c.(913-915)ATT>TTT	p.I305F	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	305										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCCGAAATGATCTGGAAA	0.363		NaN											0	0	0	0.001984	0	6	42				
EPHB3	2049	broad.mit.edu	37	3	184299392	184299392	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:184299392G>A	uc003foz.2	+	16	3416	c.2979G>A	c.(2977-2979)ACG>ACA	p.T993T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	993	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGAACCAGACGCTGCCTGTGC	0.617		NaN											0	0	0	0.009096	0	3	29				
DGKG	1608	broad.mit.edu	37	3	185970927	185970927	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:185970927G>A	uc003fqa.2	-	18	2092	c.1555C>T	c.(1555-1557)CTT>TTT	p.L519F	DGKG_uc003fqb.2_Missense_Mutation_p.L480F|DGKG_uc003fqc.2_Missense_Mutation_p.L494F|DGKG_uc011brx.1_Missense_Mutation_p.L460F	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	519	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTGTTCCAAGAGGCAGGACA	0.512		NaN											0	0	0	0.007413	0	15	126				
KIAA0226	9711	broad.mit.edu	37	3	197427591	197427591	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:197427591C>T	uc003fyc.2	-	7	1337	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	KIAA0226_uc003fyd.3_Missense_Mutation_p.R325H|KIAA0226_uc003fye.1_Missense_Mutation_p.R92H|KIAA0226_uc003fyf.2_Missense_Mutation_p.R218H|KIAA0226_uc003fyg.2_Missense_Mutation_p.R378H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	385	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTGGACCTGCGGAGGACACT	0.577		NaN											0	0	0	0.012319	0	22	85				
FGFR3	2261	broad.mit.edu	37	4	1807559	1807559	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:1807559C>T	uc003gdr.3	+	13	1984	c.1728C>T	c.(1726-1728)GAC>GAT	p.D576D	FGFR3_uc003gdu.2_Silent_p.D578D|FGFR3_uc003gds.3_Silent_p.D464D|FGFR3_uc003gdq.3_Silent_p.D577D	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	576	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	cgggccTGGACTACTCCTTCG	0.567		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	35	159				
OTOP1	133060	broad.mit.edu	37	4	4199012	4199012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:4199012C>T	uc003ghp.1	-	5	1579	c.1549G>A	c.(1549-1551)GAG>AAG	p.E517K		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	517					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGCTCTCCTCCTGCTTCTCC	0.567		NaN											0	0	0	0.00308	0	8	80				
GABRB1	2560	broad.mit.edu	37	4	47427924	47427924	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:47427924C>G	uc003gxh.2	+	9	1688	c.1314C>G	c.(1312-1314)GTC>GTG	p.V438V	GABRB1_uc011bze.1_Silent_p.V368V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	438	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCTCAAAGTCAAGATCCCCG	0.572		NaN											0	0	0	0.012319	0	20	157				
GC	2638	broad.mit.edu	37	4	72622632	72622632	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:72622632C>T	uc003hge.2	-	8	985	c.832_splice	c.e8-1	p.L278_splice	GC_uc003hgd.2_Splice_Site_p.L156_splice|GC_uc010iie.2_Splice_Site_p.L278_splice|GC_uc010iif.2_Splice_Site_p.L297_splice	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor						hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTTCAGGCAGCTACAAAACGA	0.338		NaN											0	0	0	0.01441	0	54	84				
ANKRD17	26057	broad.mit.edu	37	4	73959821	73959821	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:73959821T>C	uc003hgp.2	-	28	5419	c.5302A>G	c.(5302-5304)ACT>GCT	p.T1768A	ANKRD17_uc003hgo.2_Missense_Mutation_p.T1655A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1517A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1767A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1768	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGTCTCCAGTCTTGTCTTTC	0.358		NaN											0	0	0	0.01441	0	139	120				
WDFY3	23001	broad.mit.edu	37	4	85678145	85678145	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:85678145A>T	uc003hpd.2	-	33	5766	c.5358T>A	c.(5356-5358)AGT>AGA	p.S1786R		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1786						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGCAGCTCACTAACTGGCT	0.502		NaN											0	0	0	0.013726	0	30	214				
HERC6	55008	broad.mit.edu	37	4	89352340	89352340	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:89352340T>A	uc011cdi.1	+	17	2316	c.2133T>A	c.(2131-2133)CCT>CCA	p.P711P	HERC6_uc011cdj.1_Silent_p.P675P|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	711	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAATTTGTCCTGAGTCTGGAG	0.373		NaN											0	0	0	0.003163	0	14	118				
GPRIN3	285513	broad.mit.edu	37	4	90169257	90169257	+	Missense_Mutation	SNP	C	C	T	rs140505056		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:90169257C>T	uc003hsm.1	-	2	2524	c.2005G>A	c.(2005-2007)GCA>ACA	p.A669T		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	669										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTGGAGTCTGCGCCAAGCTGC	0.547		NaN											0	0	0	0.006214	0	8	53				
BBS7	55212	broad.mit.edu	37	4	122782704	122782704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:122782704T>A	uc003ied.2	-	4	470	c.296A>T	c.(295-297)CAG>CTG	p.Q99L	BBS7_uc003iee.1_Missense_Mutation_p.Q99L|BBS7_uc010inq.1_Missense_Mutation_p.Q55L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	99					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						GGAGAGGAACTGTTTTCCTCT	0.353		NaN							Bardet-Biedl_syndrome				0	0	0	0.006122	0	14	57				
KIAA1109	84162	broad.mit.edu	37	4	123122253	123122253	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123122253C>T	uc003ieh.2	+	13	1515	c.1470C>T	c.(1468-1470)TTC>TTT	p.F490F	KIAA1109_uc003iei.1_Silent_p.F244F|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	490					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTACCACTTCATCTTTGCAC	0.358		NaN											0	0	0	0.001168	0	4	72				
ADAD1	132612	broad.mit.edu	37	4	123317468	123317468	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123317468A>G	uc003ieo.2	+	7	892	c.660A>G	c.(658-660)CTA>CTG	p.L220L	ADAD1_uc003iep.2_Silent_p.L220L|ADAD1_uc003ieq.2_Silent_p.L202L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	220					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TTAATCAACTAATTTCTAATC	0.284		NaN											0	0	0	0.008291	0	8	61				
LARP1B	55132	broad.mit.edu	37	4	129043216	129043216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:129043216G>C	uc003iga.2	+	11	1528	c.1397G>C	c.(1396-1398)CGA>CCA	p.R466P	LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.R466P|LARP1B_uc003igb.1_Missense_Mutation_p.R181P	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	466							RNA binding				0						GGAGGAGATCGAACAGGCACC	0.368		NaN											0	0	0	0.00278	0	19	114				
PCDH18	54510	broad.mit.edu	37	4	138452557	138452557	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:138452557G>A	uc003ihe.3	-	1	1073	c.686C>T	c.(685-687)TCA>TTA	p.S229L	PCDH18_uc003ihf.3_Missense_Mutation_p.S222L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S9L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	229	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TAGTATGGATGAGCCAGACCT	0.463		NaN											0	0	0	0.001168	0	6	85				
SFRP2	6423	broad.mit.edu	37	4	154709870	154709870	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:154709870A>T	uc003inv.1	-	1	359	c.118T>A	c.(118-120)TGC>AGC	p.C40S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	40	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				ATGGGCTTGCAATTGCTGCGC	0.637		NaN											0	0	0	0.001855	0	8	108				
FNIP2	57600	broad.mit.edu	37	4	159782529	159782529	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:159782529T>C	uc003iqe.3	+	11	1367	c.1184T>C	c.(1183-1185)ATA>ACA	p.I395T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	395					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTTCCAAGGATAGCTGAACCT	0.393		NaN											0	0	0	0.004672	0	3	38				
SCRG1	11341	broad.mit.edu	37	4	174312370	174312370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:174312370C>T	uc003ite.2	-	2	609	c.196G>A	c.(196-198)GAG>AAG	p.E66K	SCRG1_uc003itf.2_RNA	NM_007281	NP_009212	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1 precursor	66					nervous system development	extracellular space					0		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGATCATCTCACATCCCTTC	0.438		NaN											0	0	0	0.003163	0	11	228				
FAT1	2195	broad.mit.edu	37	4	187541336	187541336	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:187541336A>T	uc003izf.2	-	10	6592	c.6404T>A	c.(6403-6405)ATT>AAT	p.I2135N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2135	Extracellular (Potential).|Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTTCAGTGAAATTTCACCCAA	0.423		NaN								HNSCC(5;0.00058)			0	0	0	0.007413	0	17	83				
SLC9A3	6550	broad.mit.edu	37	5	482240	482240	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:482240C>T	uc003jbe.2	-	8	1501	c.1389G>A	c.(1387-1389)CTG>CTA	p.L463L	SLC9A3_uc011clx.1_Silent_p.L454L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	463	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCTTCACCTTCAGCCACTGCA	0.701		NaN											0	0	0	0.010729	0	9	49				
CLPTM1L	81037	broad.mit.edu	37	5	1338993	1338993	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:1338993A>T	uc003jch.2	-	4	627	c.581T>A	c.(580-582)GTG>GAG	p.V194E	CLPTM1L_uc003jcg.2_Missense_Mutation_p.V61E	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	194	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTACCGATGCACATCGGCAGG	0.647		NaN											0	0	0	0.00333	0	21	139				
ADCY2	108	broad.mit.edu	37	5	7817000	7817000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:7817000C>T	uc003jdz.1	+	23	2972	c.2905C>T	c.(2905-2907)CAC>TAC	p.H969Y	ADCY2_uc011cmo.1_Missense_Mutation_p.H789Y|ADCY2_uc010itm.1_Missense_Mutation_p.H165Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	969	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCAGTACATGCACATTGGCAC	0.517		NaN									OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	20	91				
DNAH5	1767	broad.mit.edu	37	5	13901509	13901509	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:13901509T>C	uc003jfd.2	-	14	1946	c.1904A>G	c.(1903-1905)CAT>CGT	p.H635R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	635	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTGAATCCTATGGAAGAGCTG	0.507		NaN							Kartagener_syndrome				0	0	0	0.00308	0	6	39				
KIF2A	3796	broad.mit.edu	37	5	61669661	61669661	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:61669661A>C	uc003jsy.3	+	17	2105	c.1794A>C	c.(1792-1794)CAA>CAC	p.Q598H	KIF2A_uc003jsz.3_Missense_Mutation_p.Q636H|KIF2A_uc010iwp.2_Missense_Mutation_p.Q579H|KIF2A_uc003jsx.3_Missense_Mutation_p.Q578H|KIF2A_uc010iwq.2_Missense_Mutation_p.Q401H	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	598					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGTGAACAAAATGTGAGTG	0.383		NaN											0	0	0	0.004007	0	13	74				
MAST4	375449	broad.mit.edu	37	5	66440574	66440574	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:66440574C>A	uc003jut.1	+	21	2309	c.2241C>A	c.(2239-2241)ACC>ACA	p.T747T	MAST4_uc003juu.1_Silent_p.T757T|MAST4_uc011cra.1_Silent_p.T730T|MAST4_uc003juv.2_Silent_p.T742T|MAST4_uc003juw.2_Silent_p.T742T	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	939						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAAGCACCACCTTGCCAT	0.398		NaN											1	0	0.00909568	0.009096	0.00921723	4	26				
HOMER1	9456	broad.mit.edu	37	5	78692703	78692703	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:78692703T>G	uc003kfy.2	-	8	1922	c.819A>C	c.(817-819)GAA>GAC	p.E273D	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.E143D|HOMER1_uc010jad.2_Missense_Mutation_p.E99D	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	273	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CATTATCAATTTCTTGTTTTA	0.348		NaN											0	0	0	0.001984	0	6	19				
ANKRD34B	340120	broad.mit.edu	37	5	79855446	79855446	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:79855446T>C	uc010jam.2	-	4	743	c.393A>G	c.(391-393)ACA>ACG	p.T131T	ANKRD34B_uc003kgw.2_Silent_p.T131T|ANKRD34B_uc010jan.2_Silent_p.T131T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	131	ANK 4.					cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGTCTCTGTATCTTCTG	0.438		NaN											0	0	0	0.003954	0	23	131				
VCAN	1462	broad.mit.edu	37	5	82832894	82832894	+	Missense_Mutation	SNP	A	A	G	rs142339468		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:82832894A>G	uc003kii.3	+	8	4428	c.4072A>G	c.(4072-4074)AGT>GGT	p.S1358G	VCAN_uc003kij.3_Missense_Mutation_p.S371G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S22G	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1358	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAACCTTGTAGTGAAGAAAC	0.318		NaN											0	0	0	0.010729	0	9	98				
TTC37	9652	broad.mit.edu	37	5	94845328	94845328	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:94845328A>T	uc003klb.2	-	29	3254	c.2984T>A	c.(2983-2985)CTG>CAG	p.L995Q		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	995	TPR 16.						binding			ovary(3)|pancreas(1)	4						TTCCTTTTTCAGTTGTAGATG	0.239		NaN											0	0	0	0.00308	0	6	49				
CCNI2	645121	broad.mit.edu	37	5	132083140	132083140	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132083140A>G	uc003kxq.1	+	1	4	c.-47A>G	c.(-49--45)ATAAA>ATGAA		CCNI2_uc011cxg.1_Translation_Start_Site|CCNI2_uc011cxh.1_Translation_Start_Site	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2						regulation of cyclin-dependent protein kinase activity		protein kinase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGGTTATAAAATGCCGGG	0.701		NaN											0	0	0	0.004672	0	2	5				
AFF4	27125	broad.mit.edu	37	5	132228738	132228738	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132228738G>C	uc003kyd.2	-	12	2788	c.2380C>G	c.(2380-2382)CCA>GCA	p.P794A	AFF4_uc011cxk.1_Missense_Mutation_p.P472A|AFF4_uc003kye.1_Missense_Mutation_p.P794A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	794					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTGGATGGCTTATGGCCT	0.423		NaN											0	0	0	0.01441	0	65	402				
FSTL4	23105	broad.mit.edu	37	5	132552957	132552957	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132552957G>T	uc003kyn.1	-	13	1790	c.1572C>A	c.(1570-1572)GTC>GTA	p.V524V	FSTL4_uc003kym.1_Silent_p.V173V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	524						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACCACAAGGACTCTGCTCA	0.507		NaN											1	0	2.79863e-10	0.004656	3.061e-10	19	102				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917005	139917005	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:139917005A>G	uc003lfs.1	+	31	7183	c.7059A>G	c.(7057-7059)CCA>CCG	p.P2353P	ANKHD1_uc003lfr.2_Silent_p.P2353P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P1109P|ANKHD1_uc003lfw.2_Silent_p.P1008P|ANKHD1_uc010jfl.2_Silent_p.P729P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P507P	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2353						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCAACCAAAAGGAGTCA	0.522		NaN											0	0	0	0.006999	0	35	149				
PCDHA10	56139	broad.mit.edu	37	5	140236270	140236270	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140236270G>A	uc003lhx.2	+	1	637	c.637G>A	c.(637-639)GCA>ACA	p.A213T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A213T|PCDHA10_uc011dad.1_Missense_Mutation_p.A213T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	213	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTTGACAGCAACTGATGG	0.423		NaN											0	0	0	0.00333	0	21	143				
PCDHB7	56129	broad.mit.edu	37	5	140552984	140552984	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140552984A>G	uc003lit.2	+	1	742	c.568A>G	c.(568-570)ATC>GTC	p.I190V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	190	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGGGAATATCTATCCCGA	0.488		NaN											0	0	0	0.007413	0	16	66				
PCDHGA7	56108	broad.mit.edu	37	5	140764040	140764040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140764040T>A	uc003lka.1	+	1	1574	c.1574T>A	c.(1573-1575)TTG>TAG	p.L525*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.L525*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	525	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCAGTTGAGAGAACTA	0.532		NaN											0	0	0	0.000602	0	5	67				
CSNK1A1	1452	broad.mit.edu	37	5	148929685	148929685	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:148929685G>T	uc003lqx.1	-	2	663	c.183C>A	c.(181-183)AGC>AGA	p.S61R	CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.S61R|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S61R|CSNK1A1_uc010jha.1_Missense_Mutation_p.S61R	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	61	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATAGAGCTTGCTCTCGTACA	0.542		NaN											1	0	6.94344e-10	0.006122	7.54002e-10	14	167				
RMND5B	64777	broad.mit.edu	37	5	177573138	177573138	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177573138C>T	uc003mim.2	+	8	898	c.718C>T	c.(718-720)CTG>TTG	p.L240L	RMND5B_uc003min.2_Silent_p.L240L|RMND5B_uc003mio.2_Silent_p.L227L|RMND5B_uc003mip.2_Silent_p.L240L|RMND5B_uc011dgf.1_Silent_p.L281L|RMND5B_uc003miq.2_Silent_p.L180L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	240										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGCAGCCTGGTGTACCT	0.642		NaN									OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	7	48				
AGXT2L2	85007	broad.mit.edu	37	5	177640080	177640080	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177640080C>G	uc003miz.2	-	11	1449	c.1197G>C	c.(1195-1197)CTG>CTC	p.L399L	AGXT2L2_uc003miy.2_Silent_p.L124L|AGXT2L2_uc003mjc.2_Silent_p.L358L|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Silent_p.L124L|AGXT2L2_uc003mjd.1_Silent_p.L257L	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	399						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CATCAGTGCTCAGCAAAACGT	0.567		NaN											0	0	0	0.008291	0	7	101				
ADAMTS2	9509	broad.mit.edu	37	5	178552080	178552080	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:178552080G>T	uc003mjw.2	-	19	2852	c.2852C>A	c.(2851-2853)ACC>AAC	p.T951N		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	951	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACGGAGCGGGTGGTGTTGTC	0.697		NaN											1	0	4.06502e-11	0.013114	4.45683e-11	38	220				
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7586077C>A	uc003mxp.1	+	24	8861	c.8582C>A	c.(8581-8583)TCC>TAC	p.S2861Y	DSP_uc003mxq.1_Missense_Mutation_p.S2262Y	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.313		NaN											1	0	5.3912e-06	0.006122	5.67824e-06	13	172				
SNRNP48	154007	broad.mit.edu	37	6	7602960	7602960	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7602960A>G	uc003mxr.2	+	6	759	c.700A>G	c.(700-702)AAG>GAG	p.K234E	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	234					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TCACATAACCAAGAAATCATA	0.333		NaN											0	0	0	0.00308	0	6	47				
SLC35B3	51000	broad.mit.edu	37	6	8422784	8422784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:8422784C>A	uc010joe.2	-	5	659	c.493G>T	c.(493-495)GGC>TGC	p.G165C	SLC35B3_uc003mya.2_Missense_Mutation_p.G133C|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.G165C|SLC35B3_uc011did.1_Missense_Mutation_p.G165C|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	165	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					TTCAGGTAGCCCAAGGAAGTG	0.358		NaN											1	0	4.35082e-09	0.010504	4.67996e-09	16	66				
HIST1H4I	8294	broad.mit.edu	37	6	27107349	27107349	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:27107349G>T	uc003niy.1	+	1	262	c.262G>T	c.(262-264)GTC>TTC	p.V88F	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	88					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CATGGACGTGGTCTACGCGCT	0.602		NaN	T	BCL6	NHL								1	0	1.05317e-09	0.00245	1.14093e-09	10	88				
PGBD1	84547	broad.mit.edu	37	6	28269267	28269267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269267G>A	uc003nky.2	+	7	2006	c.1636G>A	c.(1636-1638)GAT>AAT	p.D546N	PGBD1_uc003nkz.2_Missense_Mutation_p.D546N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	546					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CTATTGCTTTGATAAGTCAAT	0.348		NaN											0	0	0	0.006122	0	17	144				
PGBD1	84547	broad.mit.edu	37	6	28269301	28269301	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269301A>G	uc003nky.2	+	7	2040	c.1670A>G	c.(1669-1671)CAA>CGA	p.Q557R	PGBD1_uc003nkz.2_Missense_Mutation_p.Q557R	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GATAGTGACCAATTCCTGAAT	0.363		NaN											0	0	0	0.00245	0	14	116				
MDC1	9656	broad.mit.edu	37	6	30680687	30680687	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:30680687G>A	uc003nrg.3	-	5	1472	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Silent_p.V216V|MDC1_uc003nrh.1_Silent_p.V216V|MDC1_uc003nri.2_Silent_p.V344V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	344	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCATAGGAATGACAACTGGGG	0.547		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006122	0	18	113				
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:33690810C>T	uc010jvf.2	-	7	1456	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGAGGGCCCGGAGCTGGTG	0.552		NaN											0	0	0	0.00245	0	12	54				
KCNK5	8645	broad.mit.edu	37	6	39159465	39159465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:39159465C>A	uc003oon.2	-	5	1065	c.701G>T	c.(700-702)GGG>GTG	p.G234V		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234	Helical; (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CCAGGCCAGCCCCAAGTAGAT	0.577		NaN											1	0	1.10923e-09	0.00278	1.19881e-09	22	180				
CUL9	23113	broad.mit.edu	37	6	43152278	43152278	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43152278C>T	uc003ouk.2	+	2	305	c.230C>T	c.(229-231)CCT>CTT	p.P77L	CUL9_uc003ouj.1_Missense_Mutation_p.P77L|CUL9_uc003oul.2_Missense_Mutation_p.P77L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	77					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCCAACTGCCCTGGGCTGTTA	0.572		NaN											0	0	0	0.00308	0	6	91				
C6orf138	442213	broad.mit.edu	37	6	47846771	47846771	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:47846771G>C	uc011dwm.1	-	3	1843	c.1758C>G	c.(1756-1758)ATC>ATG	p.I586M	C6orf138_uc011dwn.1_Missense_Mutation_p.I350M	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	603						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GAGAAGCAATGATATTGCTTT	0.433		NaN											0	0	0	0.001168	0	6	53				
MUT	4594	broad.mit.edu	37	6	49416588	49416588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:49416588C>T	uc003ozg.3	-	7	1640	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	462					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTAGGTATTCCCTCAGCTAC	0.333		NaN											0	0	0	0.014323	0	16	227				
PKHD1	5314	broad.mit.edu	37	6	51612779	51612779	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51612779A>G	uc003pah.1	-	58	9911	c.9635T>C	c.(9634-9636)TTT>TCT	p.F3212S	PKHD1_uc010jzn.1_Missense_Mutation_p.F1195S|PKHD1_uc003pai.2_Missense_Mutation_p.F3212S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3212	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AATGCAGTCAAAAGAAGAGCT	0.448		NaN											0	0	0	0.00333	0	22	128				
PKHD1	5314	broad.mit.edu	37	6	51824704	51824704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824704T>A	uc003pah.1	-	36	6148	c.5872A>T	c.(5872-5874)ACT>TCT	p.T1958S	PKHD1_uc003pai.2_Missense_Mutation_p.T1958S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1958	Extracellular (Potential).|G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTTGTGTTAGTGTCCAGCAGA	0.463		NaN									OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	18	210				
PKHD1	5314	broad.mit.edu	37	6	51824706	51824706	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824706T>C	uc003pah.1	-	36	6146	c.5870A>G	c.(5869-5871)GAC>GGC	p.D1957G	PKHD1_uc003pai.2_Missense_Mutation_p.D1957G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1957	Extracellular (Potential).|G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGTGTTAGTGTCCAGCAGAAG	0.453		NaN									OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	16	210				
FIG4	9896	broad.mit.edu	37	6	110106228	110106228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:110106228G>A	uc003ptt.2	+	17	2160	c.1945G>A	c.(1945-1947)GAA>AAA	p.E649K	FIG4_uc011eau.1_Missense_Mutation_p.E372K	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	649					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCCTATGATGAAGGTAGGTA	0.289		NaN											0	0	0	0.00278	0	18	183				
MAN1A1	4121	broad.mit.edu	37	6	119669755	119669755	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:119669755T>C	uc003pym.1	-	2	918	c.476A>G	c.(475-477)CAG>CGG	p.Q159R	MAN1A1_uc010kei.1_Missense_Mutation_p.Q159R	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	159	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CAGCTGGTCCTGGGCCACCTT	0.652		NaN											0	0	0	0.008291	0	9	97				
HSF2	3298	broad.mit.edu	37	6	122733867	122733867	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:122733867C>G	uc003pyu.2	+	3	475	c.288C>G	c.(286-288)TTC>TTG	p.F96L	HSF2_uc003pyt.3_Missense_Mutation_p.F96L|HSF2_uc003pyv.2_Missense_Mutation_p.F96L	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	96	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		ATCCTTACTTCAAACAAGGAC	0.398		NaN											0	0	0	0.001984	0	7	133				
CTGF	1490	broad.mit.edu	37	6	132270442	132270442	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:132270442A>G	uc003qcz.2	-	5	1218	c.1012T>C	c.(1012-1014)TCG>CCG	p.S338P		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	338	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TAGTACAGCGATTCAAAGATG	0.453		NaN											0	0	0	0.00499	0	14	109				
AHI1	54806	broad.mit.edu	37	6	135787429	135787429	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:135787429T>C	uc003qgi.2	-	7	656	c.272A>G	c.(271-273)AAG>AGG	p.K91R	AHI1_uc003qgh.2_Missense_Mutation_p.K91R|AHI1_uc003qgj.2_Missense_Mutation_p.K91R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K91R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	91						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGTGCTCTTCTTCAGGTTGTT	0.393		NaN											0	0	0	0.007291	0	27	229				
TNFAIP3	7128	broad.mit.edu	37	6	138198260	138198260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:138198260G>A	uc003qhr.2	+	6	919	c.853G>A	c.(853-855)GAC>AAC	p.D285N	TNFAIP3_uc003qhs.2_Missense_Mutation_p.D285N	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	285	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGATTTGAAGACTTAAAAGT	0.373		NaN	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								0	0	0	0.010729	0	11	98				
PLEKHG1	57480	broad.mit.edu	37	6	151152027	151152027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:151152027G>A	uc003qny.1	+	16	2092	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	PLEKHG1_uc011eel.1_Missense_Mutation_p.E634K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E653K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E594K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	594					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGACAGATGGAGTCCACAGA	0.532		NaN											0	0	0	0.006214	0	7	131				
SYNJ2	8871	broad.mit.edu	37	6	158516772	158516772	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:158516772A>G	uc003qqx.1	+	27	3942	c.3867A>G	c.(3865-3867)CCA>CCG	p.P1289P	SYNJ2_uc003qqy.1_Silent_p.P1002P|SYNJ2_uc003qqz.1_Silent_p.P906P|SYNJ2_uc003qra.1_Silent_p.P632P|SYNJ2_uc010kjp.1_Silent_p.P172P	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1289	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCCAAACCAAGAACATTTC	0.597		NaN											0	0	0	0.008291	0	10	52				
MAP3K4	4216	broad.mit.edu	37	6	161470322	161470322	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470322C>G	uc003qtn.2	+	3	1160	c.1018C>G	c.(1018-1020)CAT>GAT	p.H340D	MAP3K4_uc010kkc.1_Missense_Mutation_p.H340D|MAP3K4_uc003qto.2_Missense_Mutation_p.H340D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	340					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACTCAACACATCATGAGCA	0.453		NaN											0	0	0	0.004482	0	7	73				
MAP3K4	4216	broad.mit.edu	37	6	161470565	161470565	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470565G>C	uc003qtn.2	+	3	1403	c.1261G>C	c.(1261-1263)GAC>CAC	p.D421H	MAP3K4_uc010kkc.1_Missense_Mutation_p.D421H|MAP3K4_uc003qto.2_Missense_Mutation_p.D421H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	421					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAATTTATCAGACATTGGCTG	0.438		NaN											0	0	0	0.006214	0	8	71				
SNX8	29886	broad.mit.edu	37	7	2311576	2311576	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:2311576C>G	uc003slw.2	-	4	492	c.449G>C	c.(448-450)AGA>ACA	p.R150T		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	150	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTCAGGGCTCTCCTCCTGGC	0.637		NaN											0	0	0	0.009096	0	4	59				
CREB5	9586	broad.mit.edu	37	7	28858795	28858795	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:28858795C>A	uc003szq.2	+	11	1816	c.1426C>A	c.(1426-1428)CAT>AAT	p.H476N	CREB5_uc003szo.2_Missense_Mutation_p.H443N|CREB5_uc003szr.2_Missense_Mutation_p.H469N|CREB5_uc003szs.2_Missense_Mutation_p.H337N	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	476					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AGTCATCCAGCATAATACCAT	0.502		NaN											1	0	9.64103e-21	0.01441	1.09667e-20	60	247				
ANLN	54443	broad.mit.edu	37	7	36445999	36445999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:36445999G>T	uc003tff.2	+	4	901	c.697G>T	c.(697-699)GCT>TCT	p.A233S	ANLN_uc011kaz.1_Missense_Mutation_p.A145S|ANLN_uc003tfg.2_Missense_Mutation_p.A233S|ANLN_uc010kxe.2_Missense_Mutation_p.A233S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	233	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						GCCTGGTACCGCTTGTTTATC	0.458		NaN											1	0	4.7546e-09	0.004007	5.10223e-09	17	67				
ELMO1	9844	broad.mit.edu	37	7	37311474	37311474	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:37311474A>T	uc003tfk.1	-	5	513	c.206T>A	c.(205-207)ATA>AAA	p.I69K	ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.I69K	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GCCATTTTTTATCTCATTGCG	0.353		NaN											0	0	0	0.004482	0	6	107				
HUS1	3364	broad.mit.edu	37	7	48015279	48015279	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:48015279A>G	uc003tod.1	-	5	601	c.471T>C	c.(469-471)AGT>AGC	p.S157S	HUS1_uc003toe.1_Silent_p.S157S|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	157					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				GTAAATAAATACTAACCTACA	0.318		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.00308	0	6	32				
EGFR	1956	broad.mit.edu	37	7	55214318	55214318	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:55214318G>A	uc003tqk.2	+	4	690	c.444G>A	c.(442-444)GTG>GTA	p.V148V	EGFR_uc003tqh.2_Silent_p.V148V|EGFR_uc003tqi.2_Silent_p.V148V|EGFR_uc003tqj.2_Silent_p.V148V|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Silent_p.V95V	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	148	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGGCGCCGTGCGGTTCAGCA	0.532		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	0.006122	0	15	102				
POR	5447	broad.mit.edu	37	7	75615697	75615697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:75615697C>A	uc003udy.2	+	16	2023	c.1941C>A	c.(1939-1941)TAC>TAA	p.Y647*	POR_uc011kgc.1_Nonsense_Mutation_p.Y455*|POR_uc011kgd.1_Missense_Mutation_p.T553K|POR_uc011kge.1_Nonsense_Mutation_p.Y385*|POR_uc003uea.2_Nonsense_Mutation_p.Y134*	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	644					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACACCTTCTACGACATCGTGG	0.632		NaN											1	0	1.55795e-14	0.012319	1.72894e-14	17	88				
RSBN1L	222194	broad.mit.edu	37	7	77326204	77326204	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:77326204C>T	uc010ldt.1	+	1	462	c.418C>T	c.(418-420)CAC>TAC	p.H140Y	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	140						nucleus				ovary(1)	1						CGCTCAGCCTCACCATCTCCT	0.682		NaN											0	0	0	0.004482	0	6	51				
PCLO	27445	broad.mit.edu	37	7	82579040	82579040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579040C>T	uc003uhx.2	-	6	11153	c.10864G>A	c.(10864-10866)GTC>ATC	p.V3622I	PCLO_uc003uhv.2_Missense_Mutation_p.V3622I|PCLO_uc010lec.2_Missense_Mutation_p.V587I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3553					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAGTAAAGGACTTTGGGGGAT	0.478		NaN											0	0	0	0.006122	0	18	99				
PCLO	27445	broad.mit.edu	37	7	82579271	82579271	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579271C>T	uc003uhx.2	-	6	10922	c.10633G>A	c.(10633-10635)GCC>ACC	p.A3545T	PCLO_uc003uhv.2_Missense_Mutation_p.A3545T|PCLO_uc010lec.2_Missense_Mutation_p.A510T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3476					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCTACCTTGGCATCCACTCGT	0.443		NaN											0	0	0	0.004482	0	8	57				
CDK14	5218	broad.mit.edu	37	7	90528655	90528655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90528655C>T	uc003uky.2	+	7	911	c.689C>T	c.(688-690)CCA>CTA	p.P230L	CDK14_uc003ukz.1_Missense_Mutation_p.P212L|CDK14_uc010les.1_Missense_Mutation_p.P184L|CDK14_uc011khl.1_Missense_Mutation_p.P101L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	230	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GGGCTGCATCCAGATAATGTG	0.363		NaN											0	0	0	0.00499	0	12	50				
FZD1	8321	broad.mit.edu	37	7	90894816	90894816	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90894816C>T	uc003ula.2	+	1	1034	c.621C>T	c.(619-621)TTC>TTT	p.F207F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	207	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGTTCGGCTTCCAGTGGCCAG	0.701		NaN											0	0	0	0.00499	0	15	75				
KRIT1	889	broad.mit.edu	37	7	91855114	91855114	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:91855114G>C	uc003ulq.1	-	10	1345	c.1174C>G	c.(1174-1176)CCA>GCA	p.P392A	KRIT1_uc010lev.1_Intron|KRIT1_uc003ulr.1_Missense_Mutation_p.P392A|KRIT1_uc003uls.1_Missense_Mutation_p.P392A|KRIT1_uc003ult.1_Missense_Mutation_p.P344A|KRIT1_uc003ulu.1_Missense_Mutation_p.P392A|KRIT1_uc003ulv.1_Missense_Mutation_p.P392A	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	392	ANK 4.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTTAATGGAGATCTTCCT	0.348		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	0.008291	0	11	87				
GPC2	221914	broad.mit.edu	37	7	99771457	99771457	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:99771457C>A	uc003utv.2	-	5	1060	c.892_splice	c.e5+1	p.D298_splice	GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor							anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCCCTCACCCAGATAGTT	0.378		NaN											1	0	3.13765e-25	0.01441	3.59605e-25	56	628				
CUX1	1523	broad.mit.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	T	rs140169027		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:101882763G>T	uc003uyx.3	+	23	3824	c.3786G>T	c.(3784-3786)GCG>GCT	p.A1262A	CUX1_uc003uys.3_Silent_p.A1273A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1262	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGAAACGAGCGTATCAGCAAA	0.597		NaN											1	0	2.61193e-14	0.009535	2.88454e-14	28	87				
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:107706844C>A	uc010ljo.1	-	20	2732	c.2648G>T	c.(2647-2649)GGA>GTA	p.G883V	LAMB4_uc003vey.2_Missense_Mutation_p.G883V|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	883	Laminin EGF-like 8.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGTAAAGCCTCCACAATTGAA	0.428		NaN											1	0	1.12685e-05	0.004482	1.17866e-05	7	49				
LMOD2	442721	broad.mit.edu	37	7	123302814	123302814	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:123302814T>C	uc003vky.2	+	2	1331	c.1174T>C	c.(1174-1176)TCT>CCT	p.S392P		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	392	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding				0						ACCTTATGTATCTCCCAGGCA	0.488		NaN											0	0	0	0.001855	0	13	90				
IRF5	3663	broad.mit.edu	37	7	128586051	128586051	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:128586051G>C	uc003vog.2	+	3	469	c.348G>C	c.(346-348)AAG>AAC	p.K116N	IRF5_uc010llr.1_Missense_Mutation_p.K116N|IRF5_uc011kot.1_Missense_Mutation_p.K116N|IRF5_uc011kou.1_Missense_Mutation_p.K116N|IRF5_uc010lls.1_Missense_Mutation_p.K116N|IRF5_uc003voh.2_Missense_Mutation_p.K116N|IRF5_uc010llt.2_Missense_Mutation_p.K116N|IRF5_uc003voi.2_Missense_Mutation_p.K116N|IRF5_uc010llu.1_Missense_Mutation_p.K116N|IRF5_uc003vok.2_Missense_Mutation_p.K116N|IRF5_uc003voj.3_Missense_Mutation_p.K116N|IRF5_uc010llv.1_Missense_Mutation_p.K116N|IRF5_uc010llw.1_Missense_Mutation_p.K116N	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	116	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCCTACAAGATCTACGAGG	0.637		NaN											0	0	0	0.004482	0	6	71				
CPA2	1358	broad.mit.edu	37	7	129929559	129929559	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:129929559T>C	uc003vpq.2	+	11	1251	c.1232T>C	c.(1231-1233)ATG>ACG	p.M411T		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	411					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AAGGCAATCATGGAGCATGTG	0.522		NaN											0	0	0	0.012213	0	29	124				
TMUB1	83590	broad.mit.edu	37	7	150779465	150779465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:150779465C>A	uc003wjb.2	-	1	301	c.186G>T	c.(184-186)ATG>ATT	p.M62I	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Missense_Mutation_p.M62I|TMUB1_uc003wjd.2_Missense_Mutation_p.M62I	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain	62						cytoplasm|integral to membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCCCTCTCATGCTGTCGG	0.687		NaN											1	0	3.7963e-18	0.00333	4.26498e-18	20	134				
MLL3	58508	broad.mit.edu	37	7	151919766	151919766	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:151919766A>G	uc003wla.2	-	21	3544	c.3325T>C	c.(3325-3327)TGG>CGG	p.W1109R	MLL3_uc003wkz.2_Missense_Mutation_p.W170R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1109	PHD-type 6.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCATGCATCCATCTAAAAAGA	0.348		NaN	N		medulloblastoma								0	0	0	0.001984	0	6	33		Valid		
RP1L1	94137	broad.mit.edu	37	8	10466033	10466033	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:10466033C>T	uc003wtc.2	-	4	5804	c.5575G>A	c.(5575-5577)GAT>AAT	p.D1859N		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1859					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCCCCTTCTGCC	0.627		NaN											0	0	0	0.006122	0	14	323				
SDR16C5	195814	broad.mit.edu	37	8	57228822	57228822	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:57228822C>T	uc003xsy.1	-	2	723	c.85G>A	c.(85-87)GCC>ACC	p.A29T	SDR16C5_uc010lyk.1_Missense_Mutation_p.A29T|SDR16C5_uc010lyl.1_Missense_Mutation_p.A29T	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	29	Helical; (Potential).				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGTAAGGCAAAAATCATA	0.458		NaN											0	0	0	0.003954	0	19	65				
MTDH	92140	broad.mit.edu	37	8	98703239	98703239	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:98703239G>C	uc003yhz.2	+	6	1199	c.871G>C	c.(871-873)GTA>CTA	p.V291L	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	291	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGAAAAGTCTGTAAAACTCTC	0.418		NaN											0	0	0	0.00308	0	6	60				
ZNF250	58500	broad.mit.edu	37	8	146108216	146108216	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:146108216C>T	uc003zeq.3	-	6	484	c.367G>A	c.(367-369)GAA>AAA	p.E123K	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E118K|ZNF250_uc010mgg.2_Missense_Mutation_p.E118K	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCTTGGTTTCACATTCTGAA	0.413		NaN											0	0	0	0.001855	0	11	167				
VPS13A	23230	broad.mit.edu	37	9	79960014	79960014	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:79960014C>G	uc004akr.2	+	52	7505	c.7245C>G	c.(7243-7245)CTC>CTG	p.L2415L	VPS13A_uc004akp.3_Silent_p.L2415L|VPS13A_uc004akq.3_Silent_p.L2415L|VPS13A_uc004aks.2_Silent_p.L2376L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2415					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CTACATTCCTCTTAATAAATC	0.343		NaN											0	0	0	0.004007	0	14	131				
C9orf102	375748	broad.mit.edu	37	9	98691012	98691012	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:98691012G>A	uc004avt.3	+	11	2038	c.1650G>A	c.(1648-1650)GTG>GTA	p.V550V	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V252V|C9orf102_uc010mry.1_Silent_p.V252V|C9orf102_uc010mrz.2_Silent_p.V361V|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	550	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TGCTTGACGTGCTACAGCAGT	0.393		NaN											0	0	0	0.007291	0	22	103				
C9orf156	51531	broad.mit.edu	37	9	100667070	100667070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:100667070G>A	uc004axv.1	-	5	1348	c.1271C>T	c.(1270-1272)TCT>TTT	p.S424F	C9orf156_uc004axw.1_Missense_Mutation_p.S321F|C9orf156_uc004axx.1_Missense_Mutation_p.S278F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	424					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AACAGGCTCAGAAGCCGGCTT	0.502		NaN											0	0	0	0.00245	0	14	109				
PTPN3	5774	broad.mit.edu	37	9	112151539	112151539	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112151539A>G	uc004bed.2	-	22	2339	c.2227T>C	c.(2227-2229)TTG>CTG	p.L743L	PTPN3_uc004beb.2_Silent_p.L612L|PTPN3_uc004bec.2_Silent_p.L567L|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L698L|PTPN3_uc011lwh.1_Silent_p.L589L|PTPN3_uc011lwd.1_Silent_p.L211L|PTPN3_uc011lwe.1_Silent_p.L456L|PTPN3_uc011lwf.1_Silent_p.L411L	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	743	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGAGTCGTCAACATGACAATG	0.502		NaN											0	0	0	0.010729	0	9	74				
PTPN3	5774	broad.mit.edu	37	9	112189306	112189306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112189306G>A	uc004bed.2	-	12	1037	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	PTPN3_uc004beb.2_Nonsense_Mutation_p.Q178*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q178*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q309*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q200*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.Q22*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.Q22*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	309	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TTCTTTGCCTGAAAGAACGTA	0.448		NaN											0	0	0	0.001984	0	6	104				
OR1L1	26737	broad.mit.edu	37	9	125424441	125424441	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:125424441C>A	uc011lza.1	+	1	597	c.597C>A	c.(595-597)TTC>TTA	p.F199L		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	199	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TTCTCTCCTTCTGCATTCCAC	0.463		NaN											1	0	6.4685e-43	0.01441	7.45105e-43	51	373				
FUBP3	8939	broad.mit.edu	37	9	133506081	133506081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:133506081C>T	uc004bzr.1	+	13	1292	c.1184C>T	c.(1183-1185)CCT>CTT	p.P395L	FUBP3_uc004bzs.1_Missense_Mutation_p.P308L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	395	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGAACCCCCCTCCCAACAGC	0.587		NaN											0	0	0	0.000602	0	5	84				
SLC2A6	11182	broad.mit.edu	37	9	136337170	136337170	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136337170G>A	uc004cee.2	-	10	1592	c.1497C>T	c.(1495-1497)CGC>CGT	p.R499R	SLC2A6_uc004cef.2_Silent_p.R437R|SLC2A6_uc004ceg.2_Silent_p.R476R	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	499	Cytoplasmic (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TTCTCCCCGTGCGGAAGAAGG	0.627		NaN											0	0	0	0.001855	0	13	63				
PMPCA	23203	broad.mit.edu	37	9	139306631	139306631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:139306631G>C	uc004chl.2	+	2	259	c.254G>C	c.(253-255)GGA>GCA	p.G85A	SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.G85A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	85					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AATAAGTTTGGACAGTTTTGT	0.423		NaN											0	0	0	0.004007	0	10	277				
DYNLT3	6990	broad.mit.edu	37	X	37705596	37705596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:37705596C>T	uc004dds.2	-	2	172	c.46G>A	c.(46-48)GAG>AAG	p.E16K		NM_006520	NP_006511	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	16					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity				0						TGGGCTTCCTCAGCATTGAAG	0.408		NaN											0	0	0	0.004482	0	6	21				
USP9X	8239	broad.mit.edu	37	X	41075732	41075732	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:41075732A>G	uc004dfb.2	+	35	6545	c.5912A>G	c.(5911-5913)GAG>GGG	p.E1971G	USP9X_uc004dfc.2_Missense_Mutation_p.E1971G	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1971					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TATATATCAGAGCTTGCTATC	0.398		NaN											0	0	0	0.00632	0	24	54				
RLIM	51132	broad.mit.edu	37	X	73812092	73812092	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:73812092G>A	uc004ebu.2	-	5	1348	c.1058C>T	c.(1057-1059)ACT>ATT	p.T353I	RLIM_uc004ebw.2_Missense_Mutation_p.T353I	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	353					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ATAGGTGACAGTGTTGTTTGG	0.468		NaN											0	0	0	0.003163	0	14	44				
BTK	695	broad.mit.edu	37	X	100617587	100617587	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:100617587T>G	uc004ehg.2	-	6	675	c.482A>C	c.(481-483)AAT>ACT	p.N161T	BTK_uc010nnn.2_Missense_Mutation_p.N161T|BTK_uc010nno.2_Missense_Mutation_p.N195T|BTK_uc004ehi.2_Missense_Mutation_p.N161T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	161	Btk-type.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						GCCCATAGCATTTTTGGCTGT	0.448		NaN							Agammaglobulinemia_X-linked				0	0	0	0.01441	0	46	84				
NGFRAP1	27018	broad.mit.edu	37	X	102632754	102632754	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:102632754G>T	uc004eki.2	+	3	717	c.335G>T	c.(334-336)TGA>TTA	p.*112L	NGFRAP1_uc004ekh.2_Nonstop_Mutation_p.*102L|NGFRAP1_uc004ekj.1_Nonstop_Mutation_p.*112L	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	112					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						CTTATGCCTTGACTCCTGCCA	0.418		NaN											1	0	3.09899e-07	0.004482	3.27916e-07	9	42				
RGAG1	57529	broad.mit.edu	37	X	109697168	109697168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:109697168C>G	uc004eor.1	+	3	3569	c.3323C>G	c.(3322-3324)TCT>TGT	p.S1108C	RGAG1_uc011msr.1_Missense_Mutation_p.S1108C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1108										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCATCCACCTCTCACATTAAC	0.532		NaN											0	0	0	0.003163	0	14	112				
BCORL1	63035	broad.mit.edu	37	X	129150054	129150054	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:129150054G>T	uc004evb.1	+	4	3420	c.3306G>T	c.(3304-3306)AAG>AAT	p.K1102N	BCORL1_uc010nrd.1_Missense_Mutation_p.K1004N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1102					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TTGCTTGCAAGAACAAGTGGC	0.577		NaN											1	0	7.76418e-22	0.005443	8.85389e-22	21	58				
AFF2	2334	broad.mit.edu	37	X	147743712	147743712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:147743712C>G	uc004fcp.2	+	3	943	c.464C>G	c.(463-465)TCA>TGA	p.S155*	AFF2_uc004fco.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcq.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcr.2_Nonsense_Mutation_p.S151*|AFF2_uc011mxb.1_Nonsense_Mutation_p.S155*|AFF2_uc004fcs.2_Nonsense_Mutation_p.S151*	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	155					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAAAATCAAAACCTGAG	0.463		NaN											0	0	0	0.00333	0	23	173				
L1CAM	3897	broad.mit.edu	37	X	153128264	153128264	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:153128264C>T	uc004fjb.2	-	28	3736	c.3628G>A	c.(3628-3630)GAT>AAT	p.D1210N	L1CAM_uc004fjc.2_Missense_Mutation_p.D1206N|L1CAM_uc010nuo.2_Missense_Mutation_p.D1201N	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1210	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCATAATCGGCCAGGCTG	0.597		NaN											0	0	0	0.014323	0	18	42				
KIAA0467	23334	broad.mit.edu	37	1	43893772	43893772	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:43893772A>G	uc001cjk.1	+	12	1667	c.1205A>G	c.(1204-1206)CAG>CGG	p.Q402R		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1301						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCATGCACAGCGGTGCTAT	0.637		NaN											0	0	0	0.019004	0	34	69				
KANK4	163782	broad.mit.edu	37	1	62740332	62740332	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:62740332G>A	uc001dah.3	-	3	821	c.444C>T	c.(442-444)GCC>GCT	p.A148A	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	148										ovary(3)|skin(2)|lung(1)	6						AAGTGAGCTCGGCATCCTCTG	0.627		NaN											0	0	0	0.012319	0	21	47				
LEPR	3953	broad.mit.edu	37	1	66075760	66075760	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:66075760C>A	uc001dci.2	+	13	2085	c.1883C>A	c.(1882-1884)CCA>CAA	p.P628Q	LEPR_uc001dcg.2_Missense_Mutation_p.P628Q|LEPR_uc001dch.2_Missense_Mutation_p.P628Q|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P628Q|LEPR_uc001dck.2_Missense_Mutation_p.P628Q	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	628	Extracellular (Potential).|Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGAGCAATCCAGCCTACACA	0.423		NaN											1	0	4.88506e-25	0.01441	5.47362e-25	60	71				
IGSF9	57549	broad.mit.edu	37	1	159898436	159898436	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:159898436G>A	uc001fur.2	-	19	2940	c.2742C>T	c.(2740-2742)CCC>CCT	p.P914P	IGSF9_uc001fuq.2_Silent_p.P898P|IGSF9_uc001fup.2_Silent_p.P60P	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	914	Pro-rich.|Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGGGACTGGGTGGGGCTG	0.652		NaN											0	0	0	0.014758	0	5	9				
NCF2	4688	broad.mit.edu	37	1	183559371	183559371	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:183559371C>T	uc001gqj.3	-	1	369	c.94G>A	c.(94-96)GTC>ATC	p.V32I	NCF2_uc010pod.1_Missense_Mutation_p.V32I|NCF2_uc010poe.1_Missense_Mutation_p.V32I|NCF2_uc001gqk.3_Missense_Mutation_p.V32I	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	32					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						GGGTCCTGGACGGCACTGAAG	0.557		NaN											0	0	0	0.01441	0	98	132				
TMEM63A	9725	broad.mit.edu	37	1	226044658	226044658	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:226044658G>A	uc001hpm.1	-	16	1687	c.1437C>T	c.(1435-1437)CTC>CTT	p.L479L		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	479	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CAATGGAGGGGAGCAGGGCCG	0.597		NaN											0	0	0	0.016522	0	18	29				
KIF26B	55083	broad.mit.edu	37	1	245582982	245582982	+	Silent	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:245582982G>T	uc001ibf.1	+	4	1541	c.1101G>T	c.(1099-1101)TCG>TCT	p.S367S	KIF26B_uc010pyq.1_Silent_p.S367S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCCAGCCTCGCAGGGCTCCT	0.587		NaN											1	0	1.36615e-20	0.013726	1.51252e-20	34	94				
ARHGAP22	58504	broad.mit.edu	37	10	49658321	49658321	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:49658321G>C	uc001jgt.2	-	9	2148	c.1851C>G	c.(1849-1851)TAC>TAG	p.Y617*	ARHGAP22_uc001jgs.2_Nonsense_Mutation_p.Y527*|ARHGAP22_uc001jgu.2_Nonsense_Mutation_p.Y633*|ARHGAP22_uc010qgl.1_Nonsense_Mutation_p.Y574*|ARHGAP22_uc010qgm.1_Nonsense_Mutation_p.Y623*|ARHGAP22_uc001jgv.2_Nonsense_Mutation_p.Y315*|ARHGAP22_uc001jgr.2_Nonsense_Mutation_p.Y334*	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	617	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						CACTCCTCTCGTACTCAGTCC	0.687		NaN											0	0	0	0.024245	0	14	3				
PCDH15	65217	broad.mit.edu	37	10	56077173	56077173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:56077173C>T	uc001jju.1	-	8	1129	c.734G>A	c.(733-735)CGA>CAA	p.R245Q	PCDH15_uc010qhq.1_Missense_Mutation_p.R250Q|PCDH15_uc010qhr.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhs.1_Missense_Mutation_p.R250Q|PCDH15_uc010qht.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhu.1_Missense_Mutation_p.R245Q|PCDH15_uc001jjv.1_Missense_Mutation_p.R223Q|PCDH15_uc010qhv.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R208Q|PCDH15_uc010qhx.1_Missense_Mutation_p.R245Q|PCDH15_uc010qhy.1_Missense_Mutation_p.R250Q|PCDH15_uc010qhz.1_Missense_Mutation_p.R245Q|PCDH15_uc010qia.1_Missense_Mutation_p.R223Q|PCDH15_uc010qib.1_Missense_Mutation_p.R223Q|PCDH15_uc001jjw.2_Missense_Mutation_p.R245Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	245	Extracellular (Potential).|Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTGGTGGTTCGCCTCTCATT	0.413		NaN								HNSCC(58;0.16)			0	0	0	0.01441	0	60	19				
FRG2B	441581	broad.mit.edu	37	10	135438800	135438800	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr10:135438800G>A	uc010qvg.1	-	4	693	c.640C>T	c.(640-642)CGG>TGG	p.R214W		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	214						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGAGGCCCCCGGAGCCGAGTG	0.582		NaN											0	0	0	0.030466	0	37	27				
OR51A2	401667	broad.mit.edu	37	11	4976491	4976491	+	Silent	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:4976491G>T	uc010qyt.1	-	1	453	c.453C>A	c.(451-453)TCC>TCA	p.S151S		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTCTTAAAGGAGAATACTA	0.423		NaN											1	0	9.62906e-15	0.025465	1.04128e-14	35	97				
CST6	1474	broad.mit.edu	37	11	65780370	65780370	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:65780370G>T	uc001ogr.2	+	2	368	c.314G>T	c.(313-315)GGA>GTA	p.G105V	CST6_uc001ogs.1_Missense_Mutation_p.G15V	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor	105					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						AGGGTCACTGGAGACCACGTC	0.657		NaN											1	0	1.5739e-10	0.028581	1.68244e-10	17	30				
ODZ4	26011	broad.mit.edu	37	11	78443573	78443573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:78443573G>A	uc001ozl.3	-	21	3389	c.2926C>T	c.(2926-2928)CGG>TGG	p.R976W		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	976	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AAAGGTGCCCGCTCGAACCGC	0.542		NaN											0	0	0	0.020292	0	15	9				
AQP5	362	broad.mit.edu	37	12	50355840	50355840	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:50355840G>A	uc001rvo.2	+	1	562	c.40G>A	c.(40-42)GTG>ATG	p.V14M		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	14	Helical; (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CCTCAAGGCCGTGTTCGCAGA	0.428		NaN											0	0	0	0.043863	0	19	40				
C12orf42	374470	broad.mit.edu	37	12	103696166	103696166	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:103696166G>A	uc001tjt.2	-	6	891	c.803C>T	c.(802-804)GCG>GTG	p.A268V	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.A268V|C12orf42_uc001tju.2_Missense_Mutation_p.A173V	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	268										ovary(1)|central_nervous_system(1)	2						ATTTCCGGACGCGCCCAGGAG	0.667		NaN											0	0	0	0.01441	0	49	79				
TMEM132D	121256	broad.mit.edu	37	12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:129559351G>A	uc009zyl.1	-	9	2697	c.2369C>T	c.(2368-2370)ACG>ATG	p.T790M	TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	790	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483		NaN											0	0	0	0.017118	0	33	86				
LECT1	11061	broad.mit.edu	37	13	53313190	53313190	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr13:53313190G>A	uc001vhf.2	-	2	300	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y	LECT1_uc001vhg.2_Silent_p.Y63Y|LECT1_uc001vhh.2_Silent_p.Y90Y	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	63	Helical; (Potential).				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCTTCCAGAAGTAGAAGGCCC	0.652		NaN											0	0	0	0.038147	0	7	20				
TMCO3	55002	broad.mit.edu	37	13	114202741	114202741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr13:114202741C>T	uc001vtu.3	+	12	2255	c.1894C>T	c.(1894-1896)CGA>TGA	p.R632*		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	632						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGCCGGGCGCGAAGAGCGGG	0.652		NaN											0	0	0	0.01441	0	49	77				
POTEG	404785	broad.mit.edu	37	14	19563461	19563461	+	Silent	SNP	T	T	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:19563461T>A	uc001vuz.1	+	5	1027	c.975T>A	c.(973-975)CTT>CTA	p.L325L	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	325	ANK 5.									ovary(1)	1						GCCTTCTACTTGAGCAAAACA	0.358		NaN											0	0	0	0.023175	0	27	276				
SUPT16H	11198	broad.mit.edu	37	14	21829276	21829276	+	Silent	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:21829276T>C	uc001wao.2	-	16	2229	c.1890A>G	c.(1888-1890)AAA>AAG	p.K630K	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	630					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTATAACGTTTCTGTACTT	0.408		NaN											0	0	0	0.008871	0	19	113				
EFS	10278	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr14:23828664T>G	uc001wjo.2	-	4	1631	c.1023A>C	c.(1021-1023)CCA>CCC	p.P341P	EFS_uc001wjp.2_Silent_p.P248P|EFS_uc010tnm.1_Silent_p.P172P	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	341	SH3-binding (Potential).|Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697		NaN											0	0	0	0.010504	0	14	63				
NEO1	4756	broad.mit.edu	37	15	73593703	73593703	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr15:73593703G>A	uc002avm.3	+	28	4349	c.4207G>A	c.(4207-4209)GGG>AGG	p.G1403R	NEO1_uc010ukx.1_Missense_Mutation_p.G1392R|NEO1_uc010uky.1_Missense_Mutation_p.G1350R|NEO1_uc010ukz.1_Missense_Mutation_p.G816R|NEO1_uc002avn.3_Missense_Mutation_p.G1041R	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1403	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						AGCCTCCATCGGGACTCTAGG	0.557		NaN											0	0	0	0.004672	0	3	36				
ZNF710	374655	broad.mit.edu	37	15	90611415	90611415	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr15:90611415G>A	uc002bov.1	+	2	1169	c.1046G>A	c.(1045-1047)CGG>CAG	p.R349Q		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CAGGGCACCCGGCCCCACAAG	0.642		NaN											0	0	0	0.01441	0	71	35				
RNPS1	10921	broad.mit.edu	37	16	2304013	2304013	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:2304013C>T	uc002cpt.2	-	8	1416	c.870G>A	c.(868-870)CCG>CCA	p.P290P	DCI_uc002cpr.2_5'Flank|DCI_uc002cps.2_5'Flank|RNPS1_uc002cpu.2_Silent_p.P290P|RNPS1_uc002cpv.2_Silent_p.P113P|RNPS1_uc002cpw.2_Silent_p.P290P|RNPS1_uc002cpx.2_Silent_p.P267P|RNPS1_uc010uwa.1_RNA	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	RNA-binding protein S1, serine-rich domain	290	Necessary for interaction with TRA2B, nuclear localization and exon-skipping.|Arg/Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(1)	1						GGCGGCGGCCCGGGGACCGTG	0.657		NaN											0	0	0	0.014758	0	4	8				
CIITA	4261	broad.mit.edu	37	16	11001758	11001758	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:11001758G>A	uc002dai.3	+	11	2542	c.2409G>A	c.(2407-2409)GCG>GCA	p.A803A	CIITA_uc002daj.3_Silent_p.A804A|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.A803A|CIITA_uc002dah.2_Silent_p.A755A|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	803					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CACTGCGGGCGCGGCAGCTGC	0.682		NaN	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								0	0	0	0.045705	0	34	24				
ABCC1	4363	broad.mit.edu	37	16	16230365	16230365	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:16230365A>G	uc010bvi.2	+	29	4331	c.4156A>G	c.(4156-4158)ATG>GTG	p.M1386V	ABCC1_uc010bvj.2_Missense_Mutation_p.M1327V|ABCC1_uc010bvk.2_Missense_Mutation_p.M1330V|ABCC1_uc010bvl.2_Missense_Mutation_p.M1386V|ABCC1_uc010bvm.2_Missense_Mutation_p.M1271V|ABCC1_uc002del.3_Missense_Mutation_p.M1280V	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1386	ABC transporter 2.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCCCTCCGAATGAACCTGGA	0.552		NaN											0	0	0	0.013537	0	10	25				
SLC5A11	115584	broad.mit.edu	37	16	24902200	24902200	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:24902200G>A	uc002dmu.2	+	9	907	c.675G>A	c.(673-675)GCG>GCA	p.A225A	SLC5A11_uc002dms.2_Silent_p.A161A|SLC5A11_uc010vcd.1_Silent_p.A190A|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Silent_p.A155A|SLC5A11_uc010bxt.2_Silent_p.A161A	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	225	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		GTTTTGCCGCGGTTGGTGGGA	0.542		NaN											0	0	0	0.01441	0	98	159				
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:29852959G>A	uc002dui.2	+	9	1318	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E412K|MVP_uc010vea.1_Missense_Mutation_p.E6K	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	412	MVP 8.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GACCCAGGACGAAGTCCTGTG	0.617		NaN											0	0	0	0.043863	0	20	18				
DOC2A	8448	broad.mit.edu	37	16	30017613	30017613	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:30017613C>A	uc002dvm.2	-	11	1197	c.1097G>T	c.(1096-1098)CGG>CTG	p.R366L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.R364L|DOC2A_uc002dvn.2_Missense_Mutation_p.R366L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.R366L|DOC2A_uc002dvp.2_Missense_Mutation_p.R366L|DOC2A_uc002dvq.2_Missense_Mutation_p.R366L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	366	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						CCAGTGCTTCCGAGCCTCGCC	0.721		NaN											1	0	3.32936e-07	0.038395	3.47899e-07	19	23				
ITGAD	3681	broad.mit.edu	37	16	31425842	31425842	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr16:31425842C>T	uc002ebv.1	+	17	2116	c.2067C>T	c.(2065-2067)TTC>TTT	p.F689F	ITGAD_uc010cap.1_Silent_p.F690F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	689	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GTGCCATTTTCAATGAAACCA	0.493		NaN											0	0	0	0.01441	0	171	296				
YWHAE	7531	broad.mit.edu	37	17	1268269	1268270	+	Nonsense_Mutation	DNP	TA	TA	AT			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr17:1268269_1268270TA>AT	uc002fsj.2	-	2	299_300	c.147_148TA>AT	c.(145-150)TATAAG>TAATAG	p.49_50YK>**	YWHAE_uc002fsk.2_Nonsense_Mutation_p.27_28YK>**|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	49_50					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.Y49C(1)		lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATCACATTCTTATATGCAACAG	0.411		NaN											0	0	0	0.004672	0	10	153				
ADAM11	4185	broad.mit.edu	37	17	42854950	42854950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr17:42854950G>A	uc002ihh.2	+	22	1882	c.1882G>A	c.(1882-1884)GGC>AGC	p.G628S	ADAM11_uc010wjd.1_Missense_Mutation_p.G428S|ADAM11_uc002ihi.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	628	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				CTACCACCAGGGCAAGGAGCT	0.617		NaN											0	0	0	0.01441	0	57	116				
CACNA1A	773	broad.mit.edu	37	19	13409700	13409700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:13409700C>T	uc010dze.2	-	19	2986	c.2750G>A	c.(2749-2751)TGG>TAG	p.W917*	CACNA1A_uc010dzc.2_Nonsense_Mutation_p.W442*|CACNA1A_uc002mwy.3_Nonsense_Mutation_p.W916*|CACNA1A_uc010xne.1_Nonsense_Mutation_p.W445*	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	917	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTCGCCCTCCCAGAACCCGGG	0.771		NaN											0	0	0	0.043863	0	17	22				
NWD1	284434	broad.mit.edu	37	19	16860863	16860863	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:16860863G>A	uc002neu.3	+	6	1832	c.1410G>A	c.(1408-1410)TCG>TCA	p.S470S	NWD1_uc002net.3_Silent_p.S335S|NWD1_uc002nev.3_Silent_p.S264S			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	470	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CAGCTTGCTCGGGGGCACTGG	0.632		NaN											0	0	0	0.01441	0	51	105				
GMIP	51291	broad.mit.edu	37	19	19745888	19745888	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:19745888G>A	uc002nnd.2	-	16	1812	c.1695C>T	c.(1693-1695)CCC>CCT	p.P565P	GMIP_uc010xrb.1_Silent_p.P539P|GMIP_uc010xrc.1_Silent_p.P536P	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	565	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TGACCACAAAGGGTACCTCCT	0.597		NaN											0	0	0	0.017118	0	37	80				
RHPN2	85415	broad.mit.edu	37	19	33517486	33517486	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:33517486C>T	uc002nuf.2	-	3	304	c.238G>A	c.(238-240)GTC>ATC	p.V80I	RHPN2_uc010xro.1_5'UTR|RHPN2_uc002nue.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	80	REM.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TCTGAGTTGACGAAGCTCAGC	0.562		NaN											0	0	0	0.01441	0	62	89				
RYR1	6261	broad.mit.edu	37	19	39026668	39026668	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:39026668A>C	uc002oit.2	+	82	11678	c.11548A>C	c.(11548-11550)AAC>CAC	p.N3850H	RYR1_uc002oiu.2_Missense_Mutation_p.N3845H|RYR1_uc002oiv.1_Missense_Mutation_p.N765H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3850					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGAGACAGAACAAGGCCGA	0.577		NaN											0	0	0	0.004482	0	8	15				
MYBPC2	4606	broad.mit.edu	37	19	50939408	50939408	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:50939408C>T	uc002psf.2	+	4	387	c.336C>T	c.(334-336)TCC>TCT	p.S112S		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	112	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCACAACTCCGCCAGCAATG	0.607		NaN											0	0	0	0.009096	0	3	10				
EPN1	29924	broad.mit.edu	37	19	56200276	56200276	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:56200276G>A	uc002qlw.2	+	4	861	c.519G>A	c.(517-519)GCG>GCA	p.A173A	EPN1_uc002qlv.2_Silent_p.A173A|EPN1_uc010etd.2_Silent_p.A173A|EPN1_uc002qlx.2_Silent_p.A284A	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	173					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTCCCGAGGCGGAGCAGGCGT	0.692		NaN											0	0	0	0.021553	0	5	6				
TTC27	55622	broad.mit.edu	37	2	33007733	33007733	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:33007733G>T	uc002rom.2	+	15	2051	c.1820G>T	c.(1819-1821)CGA>CTA	p.R607L	TTC27_uc010ymx.1_Missense_Mutation_p.R557L|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607	TPR 5.|HAT 2.						protein binding			central_nervous_system(1)	1						TCCTATATCCGATTAAAACAA	0.294		NaN											1	0	5.35267e-07	0.043863	5.53109e-07	17	20				
SOS1	6654	broad.mit.edu	37	2	39250333	39250333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:39250333C>T	uc002rrk.3	-	10	1277	c.1236G>A	c.(1234-1236)ATG>ATA	p.M412I	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.M26I|SOS1_uc002rrl.2_Missense_Mutation_p.M144I	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	412					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				GTTTCCCCTTCATTTGCTGAC	0.353		NaN							Noonan_syndrome				0	0	0	0.041601	0	31	49				
ANKRD36B	57730	broad.mit.edu	37	2	98177186	98177186	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:98177186G>C	uc010yvc.1	-	8	1087	c.807C>G	c.(805-807)GAC>GAG	p.D269E	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	269											0						CAGAATCTTTGTCGTCACTTG	0.323		NaN											0	0	0	0.037714	0	27	41				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:178098810C>T	uc002ulh.3	-	2	790	c.235G>A	c.(235-237)GAG>AAG	p.E79K	NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.030466	0	41	40		Valid		
ALS2CR12	130540	broad.mit.edu	37	2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr2:202216040G>A	uc010ftg.2	-	2	532	c.88C>T	c.(88-90)CGC>TGC	p.R30C	ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	30					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GAGTTCTTGCGTGGTAGTTGA	0.517		NaN											0	0	0	0.016723	0	11	36				
SGK2	10110	broad.mit.edu	37	20	42204997	42204997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:42204997G>A	uc002xkv.2	+	10	1226	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R276Q|SGK2_uc010ggm.2_Missense_Mutation_p.R276Q|SGK2_uc002xks.2_Missense_Mutation_p.R275Q|SGK2_uc002xku.2_Missense_Mutation_p.R276Q	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	336	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGAGGCAGCGGCTGGGCTCC	0.602		NaN											0	0	0	0.017118	0	36	62				
PRIC285	85441	broad.mit.edu	37	20	62200824	62200824	+	Silent	SNP	G	G	A	rs143216041		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:62200824G>A	uc002yfm.2	-	5	1657	c.765C>T	c.(763-765)TTC>TTT	p.F255F	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	255					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCCAAAGTCGAAGACCACCC	0.677		NaN											0	0	0	0.016522	0	22	30				
ARFRP1	10139	broad.mit.edu	37	20	62338384	62338384	+	Silent	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr20:62338384G>A	uc002yga.2	-	1	627	c.60C>T	c.(58-60)ATC>ATT	p.I20I	ARFRP1_uc002ygc.2_Silent_p.I20I|ARFRP1_uc002ygh.3_Silent_p.I20I|ARFRP1_uc011abf.1_Silent_p.I20I|ARFRP1_uc011abg.1_Silent_p.I20I|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.I20I|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	20					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCAGGATCAGGATGCAGTACT	0.607		NaN											0	0	0	0.030593	0	28	34				
BSN	8927	broad.mit.edu	37	3	49690722	49690722	+	Missense_Mutation	SNP	G	G	A	rs142148405		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:49690722G>A	uc003cxe.3	+	5	3847	c.3733G>A	c.(3733-3735)GCA>ACA	p.A1245T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1245					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCAGCCTGCCGCAGAGGGCAC	0.637		NaN											0	0	0	0.030466	0	41	67				
ARHGEF3	50650	broad.mit.edu	37	3	56807790	56807790	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:56807790G>C	uc003dig.2	-	2	320	c.151C>G	c.(151-153)CTC>GTC	p.L51V	ARHGEF3_uc011bew.1_Missense_Mutation_p.L51V|ARHGEF3_uc003dih.2_Missense_Mutation_p.L83V|ARHGEF3_uc011bev.1_Missense_Mutation_p.L22V|ARHGEF3_uc003dif.2_Missense_Mutation_p.L57V|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.L51V	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	51					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCGGGATGAGGTTTGCTAGC	0.473		NaN											0	0	0	0.013726	0	28	10				
PRR23B	389151	broad.mit.edu	37	3	138738758	138738758	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:138738758G>A	uc003esy.1	-	1	1011	c.746C>T	c.(745-747)CCG>CTG	p.P249L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	249	Pro-rich.									breast(1)	1						TTCCGGGAGCGGCGAGCGCGC	0.672		NaN											0	0	0	0.009096	0	4	83				
PCOLCE2	26577	broad.mit.edu	37	3	142567124	142567124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:142567124G>A	uc003evd.2	-	3	579	c.383C>T	c.(382-384)TCT>TTT	p.S128F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	128	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						GTTGGCATCAGAAATCATCTG	0.512		NaN											0	0	0	0.021022	0	39	61				
SKIL	6498	broad.mit.edu	37	3	170099114	170099114	+	Nonsense_Mutation	SNP	C	C	G	rs140174204	by1000genomes	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:170099114C>G	uc003fgu.2	+	3	1893	c.1181C>G	c.(1180-1182)TCA>TGA	p.S394*	SKIL_uc011bps.1_Nonsense_Mutation_p.S374*|SKIL_uc003fgv.2_Nonsense_Mutation_p.S394*|SKIL_uc003fgw.2_Nonsense_Mutation_p.S394*	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	394					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGACACATTCATTTTTACAC	0.284		NaN											0	0	0	0.041601	0	33	56				
USP13	8975	broad.mit.edu	37	3	179462957	179462957	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr3:179462957T>C	uc003fkh.2	+	13	1742	c.1661T>C	c.(1660-1662)GTT>GCT	p.V554A	USP13_uc003fkf.2_Intron	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	554					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CCAGAAAATGTTGATGATTTC	0.512		NaN											0	0	0	0.041601	0	31	58				
TRIM2	23321	broad.mit.edu	37	4	154217081	154217081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr4:154217081C>T	uc003ing.2	+	6	1523	c.1322C>T	c.(1321-1323)CCG>CTG	p.P441L	TRIM2_uc003inh.2_Missense_Mutation_p.P468L	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	441						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GTTAAGTCCCCGGGGAGCGGC	0.527		NaN											0	0	0	0.012213	0	33	41				
FAT1	2195	broad.mit.edu	37	4	187539564	187539564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr4:187539564G>A	uc003izf.2	-	10	8364	c.8176C>T	c.(8176-8178)CGA>TGA	p.R2726*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2726	Extracellular (Potential).|Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGTTCTGCTCGGATGAGATCT	0.453		NaN								HNSCC(5;0.00058)			0	0	0	0.01441	0	56	101				
CDH10	1008	broad.mit.edu	37	5	24537588	24537588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr5:24537588C>T	uc003jgr.1	-	3	759	c.427G>A	c.(427-429)GAG>AAG	p.E143K	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	143	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AACTCTGACTCTGGCTCTACT	0.423		NaN								HNSCC(23;0.051)			0	0	0	0.01441	0	62	109				
HTR1A	3350	broad.mit.edu	37	5	63257179	63257179	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr5:63257179G>A	uc011cqt.1	-	1	368	c.368C>T	c.(367-369)TCC>TTC	p.S123F		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	123	Helical; Name=3; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGCAAGATGGATGAGGTGCA	0.642		NaN											0	0	0	0.01892	0	26	13				
LCA5	167691	broad.mit.edu	37	6	80197346	80197346	+	Missense_Mutation	SNP	G	G	A	rs139048294		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr6:80197346G>A	uc003pix.2	-	8	1904	c.1469C>T	c.(1468-1470)CCA>CTA	p.P490L	LCA5_uc003piy.2_Missense_Mutation_p.P490L	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	490					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGGTAACAATGGCAAAACAGG	0.383		NaN											0	0	0	0.01441	0	66	108				
SSPO	23145	broad.mit.edu	37	7	149489805	149489805	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr7:149489805G>A	uc010lpk.2	+	39	5861	c.5861G>A	c.(5860-5862)CGC>CAC	p.R1954H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1954	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATCCACCGCAAGGCACGC	0.687		NaN											0	0	0	0.016723	0	13	15				
TNKS	8658	broad.mit.edu	37	8	9584174	9584174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:9584174G>A	uc003wss.2	+	13	1950	c.1945G>A	c.(1945-1947)GAT>AAT	p.D649N	TNKS_uc011kww.1_Missense_Mutation_p.D412N|TNKS_uc010lrs.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	649					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		ACGTACTTCTGATGTTGATTA	0.363		NaN											0	0	0	0.01441	0	70	119				
UNC5D	137970	broad.mit.edu	37	8	35608269	35608269	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:35608269A>G	uc003xjr.1	+	13	2433	c.2105A>G	c.(2104-2106)AAC>AGC	p.N702S	UNC5D_uc003xjs.1_Missense_Mutation_p.N697S|UNC5D_uc003xju.1_Missense_Mutation_p.N278S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	702	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGTCCTGTAACTCCCTGGAT	0.463		NaN											0	0	0	0.01441	0	66	114				
PXDNL	137902	broad.mit.edu	37	8	52321370	52321370	+	Silent	SNP	T	T	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:52321370T>C	uc003xqu.3	-	17	2915	c.2814A>G	c.(2812-2814)ACA>ACG	p.T938T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	938					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGTGGGCCTGTAGAAAAGG	0.647		NaN											0	0	0	0.006214	0	9	39				
HAS2	3037	broad.mit.edu	37	8	122626355	122626355	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:122626355A>T	uc003yph.2	-	4	2191	c.1653T>A	c.(1651-1653)GAT>GAA	p.D551E		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	551	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGATCATACATCAAGCACCA	0.443		NaN											0	0	0	0.01441	0	52	135				
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382167A>T	uc003yqh.3	-	7	933	c.825T>A	c.(823-825)GAT>GAA	p.D275E	ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.179		NaN											0	0	0	0.004482	0	9	31				
ATAD2	29028	broad.mit.edu	37	8	124382176	124382176	+	Silent	SNP	A	A	G	rs148244463		TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382176A>G	uc003yqh.3	-	7	924	c.816T>C	c.(814-816)GAT>GAC	p.D272D	ATAD2_uc011lii.1_Silent_p.D63D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.D272D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	272	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcatcatcatcgt	0.164		NaN											0	0	0	0.004482	0	8	29				
ATAD2	29028	broad.mit.edu	37	8	124382194	124382194	+	Missense_Mutation	SNP	A	A	T	rs140021846	byFrequency	TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:124382194A>T	uc003yqh.3	-	7	906	c.798T>A	c.(796-798)GAT>GAA	p.D266E	ATAD2_uc011lii.1_Missense_Mutation_p.D57E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D266E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	266	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cgtcatcatcatcatcatctt	0.169		NaN											0	0	0	0.014758	0	4	42				
COL22A1	169044	broad.mit.edu	37	8	139606274	139606274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr8:139606274G>A	uc003yvd.2	-	63	5048	c.4601C>T	c.(4600-4602)CCC>CTC	p.P1534L	COL22A1_uc011ljo.1_Missense_Mutation_p.P814L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1534	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGACCTATGGGTCCAGAGGG	0.652		NaN								HNSCC(7;0.00092)			0	0	0	0.019004	0	35	70				
NFIL3	4783	broad.mit.edu	37	9	94172665	94172665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr9:94172665C>G	uc004arh.2	-	2	747	c.352G>C	c.(352-354)GAG>CAG	p.E118Q		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	118	Leucine-zipper.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GAAAGCAGCTCAGCTTTTAAA	0.393		NaN											0	0	0	0.01441	0	63	102				
SVEP1	79987	broad.mit.edu	37	9	113173859	113173859	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr9:113173859G>C	uc010mtz.2	-	37	6469	c.6132C>G	c.(6130-6132)TTC>TTG	p.F2044L	SVEP1_uc010mty.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2044	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGCAGTAGTAGAATGCAATGT	0.557		NaN											0	0	0	0.024245	0	15	27				
ZMYM3	9203	broad.mit.edu	37	X	70471085	70471085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:70471085C>A	uc004dzh.1	-	4	808	c.721G>T	c.(721-723)GAG>TAG	p.E241*	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.E241*|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzl.3_Nonsense_Mutation_p.E241*|ZMYM3_uc004dzm.3_Nonsense_Mutation_p.E241*	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	241					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CTAACGCGCTCGCTTCTCTTC	0.527		NaN											1	0	1.99505e-19	0.012213	2.18282e-19	32	8				
MAGT1	84061	broad.mit.edu	37	X	77112890	77112890	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:77112890C>T	uc004fof.2	-	4	653	c.591G>A	c.(589-591)CAG>CAA	p.Q197Q	MAGT1_uc004fog.3_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	165					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ACCGGGCAATCTGCTCAGCTG	0.463		NaN											0	0	0	0.01441	0	75	19				
DIAPH2	1730	broad.mit.edu	37	X	96354743	96354743	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:96354743G>C	uc004efu.3	+	20	2694	c.2298G>C	c.(2296-2298)GAG>GAC	p.E766D	DIAPH2_uc004eft.3_Missense_Mutation_p.E766D	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	766	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						AATTAGCAGAGCTTAAGAATG	0.358		NaN											0	0	0	0.01892	0	22	4				
PAK3	5063	broad.mit.edu	37	X	110439847	110439847	+	Silent	SNP	C	C	T			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:110439847C>T	uc004epa.2	+	13	1458	c.1431C>T	c.(1429-1431)TAC>TAT	p.Y477Y	PAK3_uc010npt.1_Silent_p.Y462Y|PAK3_uc010npu.1_Silent_p.Y462Y|PAK3_uc004eoy.1_Silent_p.Y217Y|PAK3_uc004eoz.2_Silent_p.Y462Y|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.Y498Y|PAK3_uc010npw.1_Silent_p.Y483Y	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	477	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						AACCCCCTTACCTTAATGAAA	0.438		NaN								TSP Lung(19;0.15)			0	0	0	0.014323	0	21	43				
MAGEA12	4111	broad.mit.edu	37	X	151900051	151900051	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chrX:151900051C>G	uc010ntp.2	-	3	1104	c.750G>C	c.(748-750)TTG>TTC	p.L250F	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.L250F	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	250	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACCAAATCTTGGG	0.567		NaN											0	0	0	0.041601	0	32	104				
CAMTA1	23261	broad.mit.edu	37	1	7723702	7723702	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7723702G>A	uc001aoi.2	+	9	1302	c.1095G>A	c.(1093-1095)GGG>GGA	p.G365G		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGCAGCGGGCTCAACAGCG	0.662		NaN											0	0	0	0.010729	0	12	126				
PER3	8863	broad.mit.edu	37	1	7863866	7863866	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7863866G>T	uc001aoo.2	+	9	1266	c.1091G>T	c.(1090-1092)AGC>ATC	p.S364I	PER3_uc009vmg.1_Missense_Mutation_p.S365I|PER3_uc009vmh.1_Missense_Mutation_p.S365I|PER3_uc001aop.2_Missense_Mutation_p.S365I|PER3_uc010nzw.1_Missense_Mutation_p.S46I|PER3_uc001aon.2_Missense_Mutation_p.S364I	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	364	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCCTGGAGCCGGAAGATT	0.403		NaN											1	0	1.36161e-19	0.004289	1.53322e-19	36	41				
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:8617577C>G	uc001ape.2	-	6	1338	c.528G>C	c.(526-528)AAG>AAC	p.K176N	RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	176	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438		NaN											0	0	0	0.012319	0	22	30				
DFFA	1676	broad.mit.edu	37	1	10523593	10523593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:10523593G>T	uc001arj.2	-	4	624	c.526C>A	c.(526-528)CAA>AAA	p.Q176K	DFFA_uc001ark.2_Missense_Mutation_p.Q176K	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	176					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGCACCTGTTGGAGTGTGTGC	0.547		NaN											1	0	3.61848e-18	0.007835	4.05776e-18	40	167				
C1orf127	148345	broad.mit.edu	37	1	11017751	11017751	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:11017751C>T	uc010oao.1	-	3	173	c.168G>A	c.(166-168)CTG>CTA	p.L56L	C1orf127_uc001arr.1_Silent_p.L56L|C1orf127_uc001ars.1_Silent_p.L56L	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	56										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGTCCCATCAGGCTGGCGT	0.582		NaN											0	0	0	0.00361	0	62	83				
SPEN	23013	broad.mit.edu	37	1	16203049	16203049	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16203049C>G	uc001axk.1	+	3	961	c.757C>G	c.(757-759)CAG>GAG	p.Q253E	SPEN_uc010obp.1_Missense_Mutation_p.Q212E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	253	Ser-rich.|Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCTAGAAATCAGTCTCCTCA	0.537		NaN											0	0	0	0.005524	0	33	90				
LUZP1	7798	broad.mit.edu	37	1	23419953	23419953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23419953C>T	uc001bgk.2	-	4	1186	c.802G>A	c.(802-804)GAG>AAG	p.E268K	LUZP1_uc010odv.1_Missense_Mutation_p.E268K|LUZP1_uc001bgl.2_Missense_Mutation_p.E268K|LUZP1_uc001bgm.1_Missense_Mutation_p.E268K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	268	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTTTCATTCTCTACCTGCTTT	0.413		NaN											0	0	0	0.010818	0	32	51				
LUZP1	7798	broad.mit.edu	37	1	23420139	23420139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23420139C>G	uc001bgk.2	-	4	1000	c.616G>C	c.(616-618)GAA>CAA	p.E206Q	LUZP1_uc010odv.1_Missense_Mutation_p.E206Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E206Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E206Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	206	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCTCATTTTCTTTCTCCTTT	0.328		NaN											0	0	0	0.007413	0	20	29				
ASAP3	55616	broad.mit.edu	37	1	23763091	23763091	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23763091G>A	uc001bha.2	-	16	1657	c.1533C>T	c.(1531-1533)CCC>CCT	p.P511P	ASAP3_uc001bgy.1_Silent_p.P15P|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.P380P|ASAP3_uc010oea.1_Silent_p.P502P|ASAP3_uc001bhb.2_Silent_p.P34P	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	511	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CGCCGTGTGAGGGTAGCTGGG	0.587		NaN											0	0	0	0.00361	0	56	70				
ZNF683	257101	broad.mit.edu	37	1	26691249	26691249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:26691249G>A	uc001bmg.1	-	4	906	c.788C>T	c.(787-789)TCT>TTT	p.S263F	ZNF683_uc001bmh.1_Missense_Mutation_p.S263F|ZNF683_uc009vsj.1_Missense_Mutation_p.S263F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCTTGGCCAGAGGCTTGGAA	0.642		NaN											0	0	0	0.00361	0	58	48				
FCN3	8547	broad.mit.edu	37	1	27699711	27699711	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:27699711C>G	uc001boa.2	-	5	315	c.309G>C	c.(307-309)TTG>TTC	p.L103F	FCN3_uc001bob.2_Missense_Mutation_p.L92F	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	103	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCAGCCGCTCAAGGTGGCGC	0.642		NaN											0	0	0	0.003271	0	34	71				
GMEB1	10691	broad.mit.edu	37	1	29040947	29040947	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:29040947A>C	uc001bra.2	+	10	1522	c.1384A>C	c.(1384-1386)ACA>CCA	p.T462P	GMEB1_uc001bqz.2_Missense_Mutation_p.T452P|GMEB1_uc001brb.2_Missense_Mutation_p.T452P	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCAGACACAGTGACCAT	0.582		NaN											0	0	0	0.003954	0	26	83				
S100PBP	64766	broad.mit.edu	37	1	33321593	33321593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:33321593G>A	uc001bvz.2	+	7	1458	c.1181G>A	c.(1180-1182)CGA>CAA	p.R394Q	S100PBP_uc001bwc.2_Missense_Mutation_p.R394Q|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	394						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAACATGCGAAGCCACCAT	0.512		NaN											0	0	0	0.003954	0	25	60				
DLGAP3	58512	broad.mit.edu	37	1	35365869	35365869	+	Silent	SNP	C	C	T	rs139408471		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:35365869C>T	uc001byc.2	-	2	1113	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	371					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				AGTCATCTTGCGGCACCTGCA	0.612		NaN											0	0	0	0.006122	0	18	187				
RSPO1	284654	broad.mit.edu	37	1	38079496	38079496	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:38079496G>A	uc001cbl.1	-	7	1293	c.505C>T	c.(505-507)CGG>TGG	p.R169W	RSPO1_uc001cbm.1_Missense_Mutation_p.R169W|RSPO1_uc009vvf.1_Missense_Mutation_p.R142W|RSPO1_uc009vvg.1_Intron	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCCCTCCGGAAACCACAG	0.627		NaN											0	0	0	0.00308	0	8	117				
LEPRE1	64175	broad.mit.edu	37	1	43224586	43224586	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43224586C>G	uc001chv.2	-	4	990	c.877G>C	c.(877-879)GAG>CAG	p.E293Q	LEPRE1_uc001chw.2_Missense_Mutation_p.E293Q|LEPRE1_uc001chx.3_Missense_Mutation_p.E293Q	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	293					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGGCTTCTCTCGACTTGGG	0.443		NaN											0	0	0	0.00361	0	51	63				
TIE1	7075	broad.mit.edu	37	1	43778138	43778138	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43778138C>T	uc001ciu.2	+	12	1872	c.1793C>T	c.(1792-1794)TCA>TTA	p.S598L	TIE1_uc010okd.1_Missense_Mutation_p.S598L|TIE1_uc010oke.1_Missense_Mutation_p.S553L|TIE1_uc009vwq.2_Missense_Mutation_p.S554L|TIE1_uc010okf.1_Missense_Mutation_p.S243L|TIE1_uc010okg.1_Missense_Mutation_p.S243L	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	598	Fibronectin type-III 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAACGTCTCATCCCCCCAG	0.706		NaN											0	0	0	0.001168	0	5	42				
SLC6A9	6536	broad.mit.edu	37	1	44482736	44482736	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:44482736G>T	uc001cll.2	-	1	262	c.70C>A	c.(70-72)CCC>ACC	p.P24T	SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.P24T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.P24T|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	24	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGGAAGAGGGGGCCACAGGT	0.677		NaN											1	0	7.07596e-05	0.006122	7.30378e-05	14	59				
PRDX1	5052	broad.mit.edu	37	1	45981460	45981460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:45981460G>C	uc001cnz.2	-	2	158	c.126C>G	c.(124-126)TTC>TTG	p.F42L	PRDX1_uc001coa.2_Missense_Mutation_p.F42L|PRDX1_uc001cob.2_Missense_Mutation_p.F42L|PRDX1_uc001coc.2_Missense_Mutation_p.F42L	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	42	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)					GAGGGTAAAAGAAGAACACAA	0.408		NaN											0	0	0	0.00361	0	67	57				
CCDC17	149483	broad.mit.edu	37	1	46086690	46086690	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46086690G>A	uc010olt.1	-	11	1632	c.1484C>T	c.(1483-1485)TCA>TTA	p.S495L	CCDC17_uc009vxy.2_Missense_Mutation_p.S463L|CCDC17_uc010ols.1_Missense_Mutation_p.S486L|CCDC17_uc001com.3_Missense_Mutation_p.S316L|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	495										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TAGTCCAAGTGAGACCCAAGC	0.592		NaN											0	0	0	0.005443	0	26	26				
LRRC41	10489	broad.mit.edu	37	1	46744710	46744710	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46744710G>T	uc001cpn.2	-	10	2310	c.2266C>A	c.(2266-2268)CTG>ATG	p.L756M	LRRC41_uc010omb.1_3'UTR	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	756										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CAGCGCTCCAGCCGCTTGGCG	0.582		NaN											1	0	1.5842e-08	0.001855	1.69292e-08	11	64				
ZYG11B	79699	broad.mit.edu	37	1	53287142	53287142	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53287142A>C	uc001cuj.2	+	14	2271	c.2076A>C	c.(2074-2076)GAA>GAC	p.E692D	ZYG11B_uc010onj.1_Missense_Mutation_p.E613D|ZYG11B_uc009vzh.2_Missense_Mutation_p.E114D	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	692							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGATTGAAGAAGGAGGATTGC	0.358		NaN											0	0	0	0.009096	0	4	55				
PODN	127435	broad.mit.edu	37	1	53544320	53544320	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53544320C>A	uc001cuv.2	+	8	1289	c.1282C>A	c.(1282-1284)CGC>AGC	p.R428S	PODN_uc001cuw.2_Missense_Mutation_p.R409S|PODN_uc010onr.1_Missense_Mutation_p.R409S|PODN_uc010ons.1_Missense_Mutation_p.R286S	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	380	LRR 12.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						TGGCCTGCCTCGCCGCGTGCG	0.632		NaN											1	0	1.76056e-25	0.011902	2.00733e-25	44	148				
USP1	7398	broad.mit.edu	37	1	62916526	62916526	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:62916526G>C	uc001daj.1	+	9	2560	c.2232G>C	c.(2230-2232)GAG>GAC	p.E744D	USP1_uc001dak.1_Missense_Mutation_p.E744D|USP1_uc001dal.1_Missense_Mutation_p.E744D	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	744					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGAGTATGAGGGGAAGTGGT	0.373		NaN											0	0	0	0.010729	0	12	56				
SGIP1	84251	broad.mit.edu	37	1	67155919	67155919	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:67155919T>C	uc001dcr.2	+	17	1707	c.1490T>C	c.(1489-1491)ATA>ACA	p.I497T	SGIP1_uc010opd.1_Missense_Mutation_p.I97T|SGIP1_uc001dcs.2_Missense_Mutation_p.I97T|SGIP1_uc001dct.2_Missense_Mutation_p.I97T|SGIP1_uc009wat.2_Missense_Mutation_p.I291T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	497	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CCTCCTCCAATAGCACCCTTA	0.458		NaN											0	0	0	0.007413	0	17	235				
ABCD3	5825	broad.mit.edu	37	1	94943841	94943841	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:94943841C>G	uc001dqn.3	+	8	756	c.654C>G	c.(652-654)ATC>ATG	p.I218M	ABCD3_uc001dqm.3_Missense_Mutation_p.I218M|ABCD3_uc010oto.1_Missense_Mutation_p.I242M|ABCD3_uc010otp.1_Missense_Mutation_p.I145M|ABCD3_uc009wdr.2_Missense_Mutation_p.I218M	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	218	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTGTATATCTTTAAGTTAA	0.259		NaN											0	0	0	0.000602	0	4	27				
KCNA2	3737	broad.mit.edu	37	1	111146504	111146504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:111146504C>T	uc001dzu.2	-	2	1397	c.901G>A	c.(901-903)GTC>ATC	p.V301I	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.V301I	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	301	Helical; Voltage-sensor; Name=Segment S4; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCCTAAAGACTCTTACCAAC	0.527		NaN											0	0	0	0.004289	0	37	162				
TSPAN2	10100	broad.mit.edu	37	1	115600206	115600206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:115600206G>C	uc001eft.2	-	6	530	c.468C>G	c.(466-468)AGC>AGG	p.S156R		NM_005725	NP_005716	O60636	TSN2_HUMAN	tetraspan 2	156	Extracellular (Potential).					integral to membrane					0	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTGTTCGGAGCTTTCTTTTC	0.493		NaN											0	0	0	0.007291	0	23	269				
ITGA10	8515	broad.mit.edu	37	1	145534181	145534181	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:145534181T>C	uc001eoa.2	+	14	1762	c.1686T>C	c.(1684-1686)GAT>GAC	p.D562D	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.D431D|ITGA10_uc009wiw.2_Silent_p.D419D|ITGA10_uc010oyw.1_Silent_p.D507D	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	562	Potential.|Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAACCAAGATGGTTTTGCTG	0.582		NaN											0	0	0	0.005524	0	37	489				
C1orf54	79630	broad.mit.edu	37	1	150246527	150246527	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150246527T>A	uc001eud.2	+	2	122	c.84T>A	c.(82-84)GAT>GAA	p.D28E	C1orf54_uc001euc.2_Missense_Mutation_p.D28E|C1orf54_uc001eue.2_Missense_Mutation_p.D28E|C1orf54_uc001euf.2_Missense_Mutation_p.D28E|C1orf54_uc001eug.2_Missense_Mutation_p.D28E	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	28						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGAGAGGATGAATATTATC	0.448		NaN											0	0	0	0.012213	0	30	325				
SETDB1	9869	broad.mit.edu	37	1	150915383	150915383	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150915383G>A	uc001evu.2	+	7	919	c.729G>A	c.(727-729)TCG>TCA	p.S243S	SETDB1_uc009wmf.2_Silent_p.S243S|SETDB1_uc001evv.2_Silent_p.S243S|SETDB1_uc001evw.3_Silent_p.S243S|SETDB1_uc009wmg.1_Silent_p.S243S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTACTGTCGGGGAACCATA	0.453		NaN											0	0	0	0.008871	0	17	260				
FLG	2312	broad.mit.edu	37	1	152279926	152279926	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:152279926T>G	uc001ezu.1	-	3	7472	c.7436A>C	c.(7435-7437)GAG>GCG	p.E2479A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2479	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACCAATTGCTCGTAGTGGGA	0.572		NaN							Ichthyosis				0	0	0	0.00361	0	74	870				
DCST1	149095	broad.mit.edu	37	1	155018907	155018907	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155018907C>T	uc001fgn.1	+	13	1536	c.1440C>T	c.(1438-1440)CTC>CTT	p.L480L	DCST1_uc010per.1_Silent_p.L505L|DCST1_uc010pes.1_Silent_p.L455L|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	480	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTGGGCTCTCTACTCCATCT	0.612		NaN											0	0	0	0.004007	0	16	186				
THBS3	7059	broad.mit.edu	37	1	155172605	155172605	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155172605C>T	uc001fix.2	-	8	978	c.955G>A	c.(955-957)GAG>AAG	p.E319K	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.E310K|THBS3_uc001fiz.2_Missense_Mutation_p.E319K|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.E199K|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	319	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCTCACCTCATTGATGTCA	0.607		NaN											0	0	0	0.00361	0	42	143				
DAP3	7818	broad.mit.edu	37	1	155698905	155698905	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155698905G>A	uc001flq.2	+	8	845	c.676G>A	c.(676-678)GTT>ATT	p.V226I	DAP3_uc001flr.2_Missense_Mutation_p.V226I|DAP3_uc001fls.2_Missense_Mutation_p.V226I|DAP3_uc010pgl.1_Missense_Mutation_p.V185I|DAP3_uc001flt.2_Missense_Mutation_p.V192I|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Missense_Mutation_p.V192I	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	226					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGAGAAGTGGTTGAACAGGT	0.398		NaN											0	0	0	0.008291	0	10	152				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155887393T>G	uc001fmi.1	-	11	1361	c.1337A>C	c.(1336-1338)CAG>CCG	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	446	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.448		NaN											0	0	0	0.007291	0	21	91				
RXFP4	339403	broad.mit.edu	37	1	155912334	155912334	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155912334C>T	uc010pgs.1	+	1	855	c.834C>T	c.(832-834)CCC>CCT	p.P278P		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	278	Extracellular (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTGGTGCCCTGGAACAGTA	0.537		NaN											0	0	0	0.00361	0	172	204				
ARHGAP30	257106	broad.mit.edu	37	1	161021373	161021373	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161021373G>C	uc001fxl.2	-	10	1497	c.1151C>G	c.(1150-1152)TCT>TGT	p.S384C	ARHGAP30_uc001fxk.2_Missense_Mutation_p.S384C|ARHGAP30_uc001fxm.2_Missense_Mutation_p.S230C|ARHGAP30_uc009wtx.2_Missense_Mutation_p.S57C|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S230C	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	384					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGGTTCAGAGTTTGTGCC	0.607		NaN											0	0	0	0.00361	0	47	257				
USP21	27005	broad.mit.edu	37	1	161130596	161130596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161130596C>T	uc010pke.1	+	3	543	c.166C>T	c.(166-168)CCA>TCA	p.P56S	USP21_uc010pkc.1_Missense_Mutation_p.P56S|USP21_uc010pkd.1_Missense_Mutation_p.P56S|USP21_uc010pkf.1_Missense_Mutation_p.P56S	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	56					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCCCCGGCCAGGTCTGCC	0.642		NaN											0	0	0	0.008291	0	11	242				
OLFML2B	25903	broad.mit.edu	37	1	161954646	161954646	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161954646A>G	uc001gbu.2	-	7	2023	c.1599T>C	c.(1597-1599)TAT>TAC	p.Y533Y	OLFML2B_uc001gbt.2_Silent_p.Y16Y|OLFML2B_uc010pkq.1_Silent_p.Y534Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	533	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGTAGTAATAGTTGGTTA	0.537		NaN											0	0	0	0.00361	0	76	382				
ILDR2	387597	broad.mit.edu	37	1	166927059	166927059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:166927059G>A	uc001gdx.1	-	2	382	c.326C>T	c.(325-327)TCG>TTG	p.S109L		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	109	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						GGTGACAGTCGAGCCCTGTTT	0.493		NaN											0	0	0	0.00361	0	46	174				
KLHL20	27252	broad.mit.edu	37	1	173754326	173754326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:173754326C>T	uc001gjc.2	+	12	1950	c.1771C>T	c.(1771-1773)CGG>TGG	p.R591W	KLHL20_uc010pmr.1_Missense_Mutation_p.R402W|KLHL20_uc009wwf.2_Missense_Mutation_p.R573W	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	591	Kelch 6.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GAATTACCGTCGGCTAGGGGG	0.363		NaN											0	0	0	0.004878	0	32	44				
TNR	7143	broad.mit.edu	37	1	175336348	175336348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:175336348C>G	uc001gkp.1	-	8	2130	c.2049G>C	c.(2047-2049)AGG>AGC	p.R683S	TNR_uc009wwu.1_Missense_Mutation_p.R683S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	683	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTCACCAGTCCTGGCATTCA	0.493		NaN											0	0	0	0.010818	0	27	85				
HMCN1	83872	broad.mit.edu	37	1	186094817	186094817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186094817G>C	uc001grq.1	+	82	12810	c.12581G>C	c.(12580-12582)GGA>GCA	p.G4194A	HMCN1_uc001grs.1_5'Flank	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4194	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTAGCTGATGGAATCCCCACA	0.388		NaN											0	0	0	0.00632	0	26	70				
HMCN1	83872	broad.mit.edu	37	1	186114897	186114897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186114897G>A	uc001grq.1	+	93	14679	c.14450G>A	c.(14449-14451)TGG>TAG	p.W4817*	HMCN1_uc001grs.1_Nonsense_Mutation_p.W386*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATGGAAGTTGGGGAAGCTGG	0.498		NaN											0	0	0	0.00361	0	60	75				
ASPM	259266	broad.mit.edu	37	1	197073065	197073065	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:197073065C>T	uc001gtu.2	-	18	5573	c.5316G>A	c.(5314-5316)CTG>CTA	p.L1772L	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1772	IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TATACATTTTCAGATAATACT	0.358		NaN											0	0	0	0.001855	0	14	90				
LGTN	1939	broad.mit.edu	37	1	206782760	206782760	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:206782760A>C	uc001heh.2	-	3	509	c.300T>G	c.(298-300)CCT>CCG	p.P100P	LGTN_uc009xbw.2_Silent_p.P100P|LGTN_uc010prw.1_Silent_p.P100P	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	100	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGAGCACCAGAGGCCATGTTG	0.438		NaN											0	0	0	0.001368	0	12	105				
NENF	29937	broad.mit.edu	37	1	212617721	212617721	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:212617721G>A	uc001hjd.2	+	3	336	c.279G>A	c.(277-279)GGG>GGA	p.G93G	NENF_uc010ptf.1_RNA	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN	neuron derived neurotrophic factor precursor	93	Cytochrome b5 heme-binding.					extracellular space	heme binding				0				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTTGACGGGGAAGGACTCCA	0.512		NaN											0	0	0	0.001368	0	12	93				
KCTD3	51133	broad.mit.edu	37	1	215792292	215792292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:215792292G>A	uc001hks.2	+	16	1921	c.1627G>A	c.(1627-1629)GGA>AGA	p.G543R	KCTD3_uc001hkt.2_Missense_Mutation_p.G543R|KCTD3_uc010pub.1_Missense_Mutation_p.G441R|KCTD3_uc009xdn.2_Missense_Mutation_p.G267R	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	543	WD 5.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAATGTGAGGGATCCAGTAG	0.453		NaN											0	0	0	0.006214	0	8	107				
BPNT1	10380	broad.mit.edu	37	1	220233036	220233036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:220233036G>T	uc001hma.2	-	8	942	c.770C>A	c.(769-771)GCT>GAT	p.A257D	BPNT1_uc010pug.1_Missense_Mutation_p.A202D|BPNT1_uc010puh.1_Missense_Mutation_p.A221D|BPNT1_uc001hmb.3_Missense_Mutation_p.A272D	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	257					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		ACCTCCCACAGCATGTAAAAT	0.338		NaN											1	0	1.5842e-08	0.001855	1.69292e-08	14	136				
AIDA	64853	broad.mit.edu	37	1	222867175	222867175	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:222867175G>C	uc001hnn.2	-	4	450	c.245C>G	c.(244-246)TCT>TGT	p.S82C	AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.S58C	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	82					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0						TTCTTCTTGAGACTGTGTGGA	0.313		NaN											0	0	0	0.010729	0	11	26				
LYST	1130	broad.mit.edu	37	1	235884050	235884050	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:235884050G>A	uc001hxj.2	-	40	9646	c.9471C>T	c.(9469-9471)TTC>TTT	p.F3157F	LYST_uc001hxi.2_Silent_p.F381F	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3157	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGATCATTGAAGGATCGGC	0.363		NaN							Chediak-Higashi_syndrome				0	0	0	0.005524	0	38	112				
TUBB8	347688	broad.mit.edu	37	10	95170	95170	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:95170C>T	uc001ifi.2	-	1	9	c.9G>A	c.(7-9)GAG>GAA	p.E3E	TUBB8_uc009xhe.2_Silent_p.E3E|TUBB8_uc010pzs.1_Intron	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672		NaN											0	0	0	0.009096	0	3	8				
CUBN	8029	broad.mit.edu	37	10	17107518	17107518	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:17107518C>T	uc001ioo.2	-	22	3180	c.3128G>A	c.(3127-3129)AGT>AAT	p.S1043N		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1043					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCTGCACTGATTGCTTC	0.423		NaN											0	0	0	0.00361	0	54	217				
ARMC3	219681	broad.mit.edu	37	10	23250840	23250840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:23250840G>T	uc001irm.3	+	7	648	c.565G>T	c.(565-567)GAA>TAA	p.E189*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.E189*|ARMC3_uc010qcw.1_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	189	ARM 5.						binding				0						TAAACTTCAAGAACTAAATGC	0.333		NaN											1	0	0.00198382	0.001984	0.00203612	6	24				
AGAP6	414189	broad.mit.edu	37	10	51749116	51749116	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:51749116A>G	uc001jix.3	+	2	670	c.272A>G	c.(271-273)CAG>CGG	p.Q91R		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	91					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						ACAATATTCCAGAGGAACTCT	0.353		NaN											0	0	0	0.001168	0	5	53				
C10orf35	219738	broad.mit.edu	37	10	71392625	71392625	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:71392625C>T	uc001jpq.3	+	4	346	c.176C>T	c.(175-177)GCT>GTT	p.A59V		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	hypothetical protein LOC219738	59						integral to membrane				ovary(1)|skin(1)	2						AGGCTGGGTGCTGCTCAGTCC	0.627		NaN											0	0	0	0.001168	0	5	84				
LRIT1	26103	broad.mit.edu	37	10	85991892	85991892	+	Missense_Mutation	SNP	G	G	A	rs75121307		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:85991892G>A	uc001kcz.1	-	4	1685	c.1663C>T	c.(1663-1665)CGC>TGC	p.R555C		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	555	Cytoplasmic (Potential).					integral to endoplasmic reticulum membrane					0						TTTCGGCAGCGCTTCTGAAGA	0.552		NaN											0	0	0	0.002836	0	36	52				
STAMBPL1	57559	broad.mit.edu	37	10	90672881	90672881	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:90672881C>G	uc001kfk.2	+	6	867	c.444C>G	c.(442-444)CTC>CTG	p.L148L	STAMBPL1_uc010qmx.1_Silent_p.L148L|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.L148L|STAMBPL1_uc001kfn.2_5'UTR	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	148							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CTGAAATTCTCAAAAAATTGG	0.408		NaN											0	0	0	0.002836	0	34	84				
BTAF1	9044	broad.mit.edu	37	10	93726464	93726464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:93726464C>T	uc001khr.2	+	14	1698	c.1600C>T	c.(1600-1602)CGA>TGA	p.R534*	BTAF1_uc001khs.1_Nonsense_Mutation_p.R204*|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	534	HEAT 3.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				ATCATCAGTTCGAAGAGCAGC	0.338		NaN											0	0	0	0.002836	0	30	58				
CYP2C18	1562	broad.mit.edu	37	10	96454775	96454775	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:96454775C>T	uc001kjv.3	+	4	909	c.583C>T	c.(583-585)CTT>TTT	p.L195F	CYP2C18_uc001kjw.3_Missense_Mutation_p.L195F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	195					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)|skin(1)	5		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCAGAGGTTTCTTAACTTGAT	0.408		NaN											0	0	0	0.001168	0	6	68				
BLNK	29760	broad.mit.edu	37	10	97951794	97951794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:97951794G>A	uc001kls.3	-	17	1484	c.1306C>T	c.(1306-1308)CTT>TTT	p.L436F	BLNK_uc001kme.3_Missense_Mutation_p.L331F|BLNK_uc001klt.3_Missense_Mutation_p.L327F|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.L302F|BLNK_uc001klv.3_Missense_Mutation_p.L279F|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.L413F|BLNK_uc001kly.3_Missense_Mutation_p.L384F|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.L361F|BLNK_uc001kmb.3_Missense_Mutation_p.L232F|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.L354F|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	436	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGTCAATAAGAACCAAAGGA	0.343		NaN											0	0	0	0.00361	0	43	41				
PI4K2A	55361	broad.mit.edu	37	10	99400862	99400862	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:99400862C>G	uc001kog.1	+	1	420	c.363C>G	c.(361-363)ATC>ATG	p.I121M	PI4K2A_uc010qoy.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	121					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGCTGGCCATCGAGCGCTGCA	0.711		NaN											0	0	0	0.004482	0	8	28				
ADRB1	153	broad.mit.edu	37	10	115804383	115804383	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:115804383C>A	uc001lba.2	+	1	578	c.492C>A	c.(490-492)TTC>TTA	p.F164L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	164	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CCTCGCCCTTCCGCTACCAGA	0.572		NaN											1	0	1.08321e-29	0.00361	1.24546e-29	70	89				
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:116698112A>C	uc001lcd.2	+	1	161	c.100A>C	c.(100-102)ACC>CCC	p.T34P	TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	34					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637		NaN											0	0	0	0.007413	0	5	5				
PNLIPRP1	5407	broad.mit.edu	37	10	118357370	118357370	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:118357370G>T	uc001lco.1	+	7	623	c.605G>T	c.(604-606)AGT>ATT	p.S202I	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S202I|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	202					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AGTTTCGAGAGTACTCCTGAA	0.468		NaN											1	0	4.96729e-08	0.008871	5.25665e-08	20	86				
B4GALNT4	338707	broad.mit.edu	37	11	373764	373764	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:373764G>A	uc001lpb.2	+	8	728	c.719G>A	c.(718-720)CGG>CAG	p.R240Q		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	240	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCCTCCCGGAGGTACTAC	0.642		NaN											0	0	0	0.00361	0	47	37				
KRTAP5-5	439915	broad.mit.edu	37	11	1651190	1651190	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:1651190C>T	uc001lty.2	+	1	158	c.120C>T	c.(118-120)TCC>TCT	p.S40S		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	40						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtggctccggctgtggag	0.104		NaN											0	0	0	0.00308	0	4	33				
SYT9	143425	broad.mit.edu	37	11	7335059	7335059	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:7335059G>C	uc001mfe.2	+	3	1168	c.931G>C	c.(931-933)GAC>CAC	p.D311H	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	311	Cytoplasmic (Potential).|C2 1.	Calcium 2 (By similarity).|Calcium 3 (By similarity).|Calcium 1 (By similarity).				cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTACGACTTTGACAGGTTCTC	0.473		NaN											0	0	0	0.00361	0	69	141				
PAX6	5080	broad.mit.edu	37	11	31824258	31824258	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:31824258A>T	uc001mtd.3	-	4	1025	c.135T>A	c.(133-135)ATT>ATA	p.I45I	PAX6_uc001mte.3_Silent_p.I45I|PAX6_uc001mtg.3_Silent_p.I45I|PAX6_uc001mtf.3_Silent_p.I45I|PAX6_uc001mth.3_Silent_p.I45I|PAX6_uc009yjr.2_Silent_p.I45I	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	45	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TCACCTGCAGAATTCGGGAAA	0.617		NaN							Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				0	0	0	0.004007	0	16	8				
OR4C46	119749	broad.mit.edu	37	11	51515813	51515813	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:51515813G>C	uc010ric.1	+	1	532	c.532G>C	c.(532-534)GAT>CAT	p.D178H		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTTATGTGTGATCTGAACCC	0.453		NaN											0	0	0	0.001368	0	12	192				
OR8H2	390151	broad.mit.edu	37	11	55872777	55872777	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:55872777C>A	uc010riy.1	+	1	259	c.259C>A	c.(259-261)CTG>ATG	p.L87M		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					AGCGAACTTACTGACTTCCAA	0.438		NaN								HNSCC(53;0.14)			1	0	1.66425e-11	0.004878	1.83235e-11	37	632				
RTN4RL2	349667	broad.mit.edu	37	11	57243961	57243961	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:57243961C>G	uc010rjt.1	+	3	840	c.840C>G	c.(838-840)CGC>CGG	p.R280R		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	280	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity				0						AGCGCGCGCGCGTGTCCAGCT	0.716		NaN											0	0	0	0.001168	0	5	4				
MS4A14	84689	broad.mit.edu	37	11	60183468	60183468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:60183468C>T	uc001npj.2	+	5	1592	c.1027C>T	c.(1027-1029)CAT>TAT	p.H343Y	MS4A14_uc001npi.2_Missense_Mutation_p.H231Y|MS4A14_uc001npn.2_Missense_Mutation_p.H81Y|MS4A14_uc001npk.2_Missense_Mutation_p.H326Y|MS4A14_uc001npl.2_Missense_Mutation_p.H81Y|MS4A14_uc001npm.2_Missense_Mutation_p.H81Y	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	343						integral to membrane	receptor activity			breast(1)	1						TACATCATCCCATGTCAAACA	0.338		NaN											0	0	0	0.006214	0	10	69				
VWCE	220001	broad.mit.edu	37	11	61058340	61058340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:61058340G>C	uc001nra.2	-	4	634	c.355C>G	c.(355-357)CAG>GAG	p.Q119E	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	119						extracellular region	calcium ion binding			ovary(1)	1						GCCACCTCCTGACAGCCTCCA	0.622		NaN											0	0	0	0.006999	0	40	70				
TMEM179B	374395	broad.mit.edu	37	11	62557492	62557492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:62557492C>T	uc001nvd.3	+	5	663	c.633C>T	c.(631-633)CTC>CTT	p.L211L		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	211						integral to membrane					0						CAGATGCTCTCGTTGGGTCAC	0.592		NaN											0	0	0	0.00361	0	64	107				
FAU	2197	broad.mit.edu	37	11	64889086	64889086	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64889086G>A	uc001ocx.2	-	3	213	c.106C>T	c.(106-108)CCG>TCG	p.P36S	FAU_uc001ocy.1_Missense_Mutation_p.P36S|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	ubiquitin-like protein fubi and ribosomal	36											0						TGATCTTCCGGGGCAATGCCC	0.612		NaN											0	0	0	0.00308	0	8	116				
EHBP1L1	254102	broad.mit.edu	37	11	65349507	65349507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:65349507C>T	uc001oeo.3	+	9	1629	c.1364C>T	c.(1363-1365)CCT>CTT	p.P455L	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	455										central_nervous_system(1)	1						AGGGGGACCCCTGAGGCTCCT	0.642		NaN											0	0	0	0.00278	0	19	81				
NPAS4	266743	broad.mit.edu	37	11	66189921	66189921	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66189921G>A	uc001ohx.1	+	3	504	c.328_splice	c.e3-1	p.V110_splice	NPAS4_uc010rpc.1_Splice_Site	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4						transcription, DNA-dependent		DNA binding|signal transducer activity				0						CCTCCCTCCAGGTGGACCTGG	0.527		NaN											0	0	0	0.00361	0	63	206				
ACTN3	89	broad.mit.edu	37	11	66325335	66325335	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66325335C>G	uc001oio.1	+	10	1081	c.1063C>G	c.(1063-1065)CTG>GTG	p.L355V	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	355	Spectrin 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						CTTCAACACACTGCAGACCAA	0.587		NaN											0	0	0	0.001168	0	5	102				
CCDC87	55231	broad.mit.edu	37	11	66359149	66359149	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66359149T>A	uc001oiq.3	-	1	1406	c.1338A>T	c.(1336-1338)GTA>GTT	p.V446V	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	446										ovary(1)|skin(1)	2						CAGAGACCCGTACGGCAGCCG	0.532		NaN											0	0	0	0.004007	0	16	265				
PITPNM1	9600	broad.mit.edu	37	11	67269467	67269467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269467C>T	uc001olx.2	-	4	695	c.506G>A	c.(505-507)CGA>CAA	p.R169Q	PITPNM1_uc001oly.2_Missense_Mutation_p.R169Q|PITPNM1_uc001olz.2_Missense_Mutation_p.R169Q	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	169					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.R169R(1)		lung(2)|central_nervous_system(1)	3						CAGTGGCCCTCGGCCCGTCTT	0.612		NaN											0	0	0	0.006999	0	38	85				
PITPNM1	9600	broad.mit.edu	37	11	67269826	67269826	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269826C>T	uc001olx.2	-	3	541	c.352G>A	c.(352-354)GAT>AAT	p.D118N	PITPNM1_uc001oly.2_Missense_Mutation_p.D118N|PITPNM1_uc001olz.2_Missense_Mutation_p.D118N	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	118					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						TGCCCCCCATCAGGCAGGTAA	0.607		NaN											0	0	0	0.00361	0	68	199				
IGHMBP2	3508	broad.mit.edu	37	11	68703726	68703726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:68703726A>G	uc001ook.1	+	13	1880	c.1778A>G	c.(1777-1779)GAG>GGG	p.E593G	IGHMBP2_uc001ool.1_Missense_Mutation_p.E217G|IGHMBP2_uc001oom.1_Missense_Mutation_p.E171G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCTTGCTGAGGACCGGAGG	0.532		NaN											0	0	0	0.010818	0	33	410				
GRM5	2915	broad.mit.edu	37	11	88386506	88386506	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:88386506G>C	uc001pcq.2	-	3	1177	c.977C>G	c.(976-978)ACA>AGA	p.T326R	GRM5_uc009yvm.2_Missense_Mutation_p.T326R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	326	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGCTTGATTGTGATGCCACC	0.453		NaN											0	0	0	0.010729	0	11	74				
AMOTL1	154810	broad.mit.edu	37	11	94533301	94533301	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:94533301C>A	uc001pfb.2	+	3	1115	c.945C>A	c.(943-945)TTC>TTA	p.F315L	AMOTL1_uc001pfc.2_Missense_Mutation_p.F265L	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	315						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGTACCCCTTCAAGACCAAGC	0.597		NaN											1	0	2.21704e-12	0.00278	2.45088e-12	24	165				
BTG4	54766	broad.mit.edu	37	11	111369384	111369384	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:111369384C>G	uc001plj.2	-	2	303	c.118G>C	c.(118-120)GAA>CAA	p.E40Q	BTG4_uc001plk.2_Missense_Mutation_p.E40Q	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	40					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CTGTATGTTTCAAACAAGATC	0.408		NaN											0	0	0	0.004656	0	28	10				
GRAMD1B	57476	broad.mit.edu	37	11	123483472	123483472	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:123483472C>G	uc001pyx.2	+	14	1823	c.1494C>G	c.(1492-1494)GTC>GTG	p.V498V	GRAMD1B_uc001pyw.2_Silent_p.V505V|GRAMD1B_uc010rzw.1_Silent_p.V458V|GRAMD1B_uc010rzx.1_Silent_p.V458V|GRAMD1B_uc001pyy.2_Silent_p.V189V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	498						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCAGGGTCTCCACAGAGC	0.522		NaN											0	0	0	0.00499	0	16	6				
ROBO3	64221	broad.mit.edu	37	11	124747869	124747869	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:124747869G>A	uc001qbc.2	+	21	3215	c.3023G>A	c.(3022-3024)AGG>AAG	p.R1008K	ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.R57K|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1008	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGACGGCCAGGGGCACGGCC	0.597		NaN											0	0	0	0.004672	0	3	17				
SLC6A12	6539	broad.mit.edu	37	12	306659	306659	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:306659A>C	uc001qhz.2	-	11	1502	c.959T>G	c.(958-960)ATC>AGC	p.I320S	SLC6A12_uc001qhx.2_5'UTR|SLC6A12_uc001qhy.2_5'UTR|SLC6A12_uc001qia.2_Missense_Mutation_p.I320S|SLC6A12_uc001qib.2_Missense_Mutation_p.I320S|SLC6A12_uc009zdh.1_Missense_Mutation_p.I320S	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	320	Helical; Name=7; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCAGAGGGCGATGCAGTCCCT	0.378		NaN											0	0	0	0.000602	0	4	36				
CCDC77	84318	broad.mit.edu	37	12	550970	550970	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:550970C>A	uc001qig.2	+	13	1531	c.1351C>A	c.(1351-1353)CTT>ATT	p.L451I	CCDC77_uc009zdk.2_Missense_Mutation_p.L419I|CCDC77_uc010sdp.1_Missense_Mutation_p.L419I|CCDC77_uc010sdq.1_Missense_Mutation_p.L419I	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	451	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAACCAGGATCTTGCCCTTCT	0.433		NaN											1	0	7.03913e-09	0.001368	7.59668e-09	13	116				
WNK1	65125	broad.mit.edu	37	12	994879	994879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994879G>A	uc001qio.3	+	19	5416	c.4909G>A	c.(4909-4911)GAA>AAA	p.E1637K	WNK1_uc001qip.3_Missense_Mutation_p.E1390K|WNK1_uc001qir.3_Missense_Mutation_p.E810K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1637					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCATTGTCCTGAAGTAGATTC	0.473		NaN											0	0	0	0.00361	0	71	68				
WNK1	65125	broad.mit.edu	37	12	994963	994963	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994963G>A	uc001qio.3	+	19	5500	c.4993G>A	c.(4993-4995)GAA>AAA	p.E1665K	WNK1_uc001qip.3_Missense_Mutation_p.E1418K|WNK1_uc001qir.3_Missense_Mutation_p.E838K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1665					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTGTTCAGTGAACACAGCTC	0.478		NaN											0	0	0	0.00361	0	57	53				
DYRK4	8798	broad.mit.edu	37	12	4722735	4722735	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:4722735T>C	uc001qmx.2	+	13	1539	c.1379T>C	c.(1378-1380)GTT>GCT	p.V460A	DYRK4_uc001qmy.1_Missense_Mutation_p.V459A|DYRK4_uc001qmz.1_Missense_Mutation_p.V173A|DYRK4_uc001qna.1_Missense_Mutation_p.V96A|DYRK4_uc010ser.1_Missense_Mutation_p.V97A	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	460						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			ACGAAGCATGTTCAGCATTCA	0.493		NaN											0	0	0	0.008291	0	10	89				
GRIN2B	2904	broad.mit.edu	37	12	13717440	13717440	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:13717440A>C	uc001rbt.2	-	13	2911	c.2732T>G	c.(2731-2733)CTG>CGG	p.L911R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	911	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACCAGACAGGTTAGCCAT	0.582		NaN											0	0	0	0.00361	0	65	270				
SOX5	6660	broad.mit.edu	37	12	23999053	23999053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:23999053T>A	uc001rfw.2	-	3	447	c.345A>T	c.(343-345)GAA>GAT	p.E115D	SOX5_uc001rfx.2_Missense_Mutation_p.E102D|SOX5_uc001rfy.2_Missense_Mutation_p.E102D|SOX5_uc010siv.1_Missense_Mutation_p.E102D|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E67D|SOX5_uc001rga.2_Missense_Mutation_p.E80D	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	115					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GTCGCCCACCTTCTTCTGCCT	0.478		NaN											0	0	0	0.00245	0	13	155				
MLL2	8085	broad.mit.edu	37	12	49431524	49431525	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			TC	CA	TC	TC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:49431524_49431525TC>CA	uc001rta.3	-	34	9614_9615	c.9614_9615GA>TG	c.(9613-9615)GGA>GTG	p.G3205V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3205					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGAGGATCCTCCTGGGCCACT	0.599		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.004672	0	4	21		Valid		
ERBB3	2065	broad.mit.edu	37	12	56480394	56480394	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:56480394G>C	uc001sjh.2	+	4	694	c.501G>C	c.(499-501)GTG>GTC	p.V167V	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.V108V|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	167	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGACATCGTGAGGGACCGAG	0.493		NaN											0	0	0	0.012213	0	30	254				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57485446T>C	uc001smz.2	+	2	1000	c.622T>C	c.(622-624)TTC>CTC	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTCGCCCCCCTTCTCCCCCCC	0.716		NaN											0	0	0	0.008871	0	7	51				
PIP4K2C	79837	broad.mit.edu	37	12	57985171	57985171	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57985171C>T	uc001sou.2	+	1	230	c.99C>T	c.(97-99)TTC>TTT	p.F33F	PIP4K2C_uc001sot.2_Silent_p.F33F|PIP4K2C_uc010srs.1_Silent_p.F33F|PIP4K2C_uc010srt.1_Silent_p.F33F	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	33						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					AGAAGCATTTCGTGCAGCAGA	0.662		NaN											0	0	0	0.00361	0	101	258				
IRAK3	11213	broad.mit.edu	37	12	66639035	66639035	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:66639035T>C	uc001sth.2	+	11	1409	c.1307T>C	c.(1306-1308)ATG>ACG	p.M436T	IRAK3_uc010ssy.1_Missense_Mutation_p.M375T	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	436	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		AGACCATCAATGGATGAAGTG	0.418		NaN											0	0	0	0.00361	0	77	372				
IFNG	3458	broad.mit.edu	37	12	68553296	68553296	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:68553296G>C	uc001stw.1	-	1	226	c.100C>G	c.(100-102)CTT>GTT	p.L34V		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	34					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TATTTCTTAAGGTTTTCTGCT	0.363		NaN											0	0	0	0.000602	0	5	51				
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:109095064G>A	uc001tnj.2	-	2	127	c.31C>T	c.(31-33)CGG>TGG	p.R11W	CORO1C_uc009zva.2_Missense_Mutation_p.R64W|CORO1C_uc010sxf.1_Missense_Mutation_p.R11W	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						AATACATGCCGAAACTTGCTC	0.443		NaN											0	0	0	0.010729	0	10	165				
KNTC1	9735	broad.mit.edu	37	12	123072359	123072359	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123072359T>G	uc001ucv.2	+	39	3995	c.3832T>G	c.(3832-3834)TCA>GCA	p.S1278A	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1278					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGGTTGGTTCATTTGGTAC	0.423		NaN											0	0	0	0.009096	0	3	37				
KNTC1	9735	broad.mit.edu	37	12	123078909	123078909	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123078909A>C	uc001ucv.2	+	43	4495	c.4332A>C	c.(4330-4332)ACA>ACC	p.T1444T	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1444					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATGGACACAAGCCTCATTT	0.323		NaN											0	0	0	0.003954	0	24	42				
MPHOSPH9	10198	broad.mit.edu	37	12	123687540	123687540	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123687540C>A	uc001uel.2	-	6	1063	c.956G>T	c.(955-957)AGA>ATA	p.R319I	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	319					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAAGGATATTCTGTCATCAAG	0.463		NaN											1	0	2.01807e-28	0.00361	2.31547e-28	52	177				
GTF2H3	2967	broad.mit.edu	37	12	124144458	124144458	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:124144458C>A	uc001ufo.1	+	11	827	c.801C>A	c.(799-801)GTC>GTA	p.V267V	GTF2H3_uc010tau.1_Silent_p.V226V	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3,	267					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTGGTTATGTCTGTTCTGTGT	0.403		NaN						NER					1	0	1.45844e-13	0.002836	1.62214e-13	35	62				
ULK1	8408	broad.mit.edu	37	12	132379547	132379547	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132379547A>G	uc001uje.2	+	1	269	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	1					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		cgccTGCGCCATGGAGCCCGG	0.373		NaN											0	0	0	0.000602	0	4	7				
EP400	57634	broad.mit.edu	37	12	132504716	132504716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132504716G>A	uc001ujn.2	+	21	4435	c.4400G>A	c.(4399-4401)CGA>CAA	p.R1467Q	EP400_uc001ujl.2_Missense_Mutation_p.R1466Q|EP400_uc001ujm.2_Missense_Mutation_p.R1467Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1503					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCGCTTCGAGGACGGCCG	0.652		NaN											0	0	0	0.007291	0	27	94				
ATP12A	479	broad.mit.edu	37	13	25276099	25276099	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25276099C>A	uc001upp.2	+	14	2095	c.1908C>A	c.(1906-1908)CCC>CCA	p.P636P	ATP12A_uc010aaa.2_Silent_p.P642P	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	636	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGATCATCCCATCACAGCCA	0.478		NaN											1	0	7.93312e-07	0.00245	8.33054e-07	13	154				
ATP12A	479	broad.mit.edu	37	13	25281419	25281419	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25281419C>T	uc001upp.2	+	17	2528	c.2341C>T	c.(2341-2343)CGC>TGC	p.R781C	ATP12A_uc010aaa.2_Missense_Mutation_p.R787C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	781	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGCCTAGGTCGCCTGATCTT	0.532		NaN											0	0	0	0.00361	0	52	130				
BRCA2	675	broad.mit.edu	37	13	32936814	32936814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936814C>T	uc001uub.1	+	17	8187	c.7960C>T	c.(7960-7962)CTT>TTT	p.L2654F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2654					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGGTGCTTCTTCAACTAAA	0.373		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.00333	0	22	25				
BRCA2	675	broad.mit.edu	37	13	32936817	32936817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936817C>T	uc001uub.1	+	17	8190	c.7963C>T	c.(7963-7965)CAA>TAA	p.Q2655*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2655					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTGCTTCTTCAACTAAAATA	0.378		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.00333	0	22	25				
BRCA2	675	broad.mit.edu	37	13	32937596	32937596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32937596C>T	uc001uub.1	+	18	8484	c.8257C>T	c.(8257-8259)CTT>TTT	p.L2753F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2753					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGATTATTCTTCATGGAGC	0.438		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.012319	0	21	65				
KLF5	688	broad.mit.edu	37	13	73636804	73636804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:73636804C>G	uc001vje.2	+	2	1391	c.1067C>G	c.(1066-1068)CCT>CGT	p.P356R	KLF5_uc001vjd.2_Missense_Mutation_p.P265R	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	356					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AACATCCAACCTGTCAGATAC	0.453		NaN											0	0	0	0.007413	0	18	89		Valid		
DCT	1638	broad.mit.edu	37	13	95121217	95121217	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:95121217A>C	uc001vlv.3	-	2	805	c.378T>G	c.(376-378)ATT>ATG	p.I126M	DCT_uc010afh.2_Missense_Mutation_p.I126M	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	126	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTTCTGCCGAATCACTGGTG	0.507		NaN											0	0	0	0.00361	0	94	202				
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:114778667G>A	uc001vui.2	-	15	1594	c.1463C>T	c.(1462-1464)GCG>GTG	p.A488V	RASA3_uc010tkk.1_Missense_Mutation_p.A456V|RASA3_uc001vuj.2_Missense_Mutation_p.A105V	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617		NaN											0	0	0	0.003954	0	18	6				
OR4Q3	441669	broad.mit.edu	37	14	20215775	20215775	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20215775T>C	uc010tkt.1	+	1	189	c.189T>C	c.(187-189)TTT>TTC	p.F63F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTATTATTTTTTAGGTCATC	0.413		NaN											0	0	0	0.00361	0	59	143				
ACIN1	22985	broad.mit.edu	37	14	23533347	23533347	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23533347G>T	uc001wit.3	-	12	3064	c.2736C>A	c.(2734-2736)GAC>GAA	p.D912E	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.D154E|ACIN1_uc001wiq.3_Missense_Mutation_p.D154E|ACIN1_uc001wir.3_Missense_Mutation_p.D185E|ACIN1_uc001wis.3_Missense_Mutation_p.D593E|ACIN1_uc010akg.2_Missense_Mutation_p.D899E	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	912					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGCCCCTTGTCATGGGTCC	0.562		NaN											1	0	1.58986e-06	0.008291	1.6631e-06	11	170				
EFS	10278	broad.mit.edu	37	14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23829056C>T	uc001wjo.2	-	4	1239	c.631G>A	c.(631-633)GAG>AAG	p.E211K	EFS_uc001wjp.2_Missense_Mutation_p.E118K|EFS_uc010tnm.1_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	211	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617		NaN											0	0	0	0.010818	0	31	137				
JPH4	84502	broad.mit.edu	37	14	24045009	24045009	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:24045009G>C	uc001wkq.2	-	4	1954	c.1036C>G	c.(1036-1038)CTC>GTC	p.L346V	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.L346V|JPH4_uc001wks.2_Missense_Mutation_p.L346V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	346	Cytoplasmic (Potential).|MORN 8.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGAGGCAGGAGACTGCGGACG	0.731		NaN											0	0	0	0.001984	0	5	4				
PNN	5411	broad.mit.edu	37	14	39646875	39646875	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:39646875G>A	uc001wuw.3	+	5	503	c.406G>A	c.(406-408)GAA>AAA	p.E136K		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	136	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAATATGGATGAAAAGGGAAA	0.403		NaN											0	0	0	0.00361	0	57	134				
MDGA2	161357	broad.mit.edu	37	14	47504376	47504376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:47504376C>G	uc001wwj.3	-	8	1646	c.1450G>C	c.(1450-1452)GTT>CTT	p.V484L	MDGA2_uc001wwi.3_Missense_Mutation_p.V255L|MDGA2_uc010ani.2_Missense_Mutation_p.V44L	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	484	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						GGCATTGCAACTTCTTTATCC	0.418		NaN											0	0	0	0.00361	0	57	108				
NIN	51199	broad.mit.edu	37	14	51288736	51288736	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:51288736G>C	uc001wym.2	-	3	230	c.39C>G	c.(37-39)CTC>CTG	p.L13L	NIN_uc001wyi.2_Silent_p.L13L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L13L|NIN_uc010tqp.1_Intron|NIN_uc001wyo.2_Silent_p.L13L|NIN_uc001wyp.1_Intron	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	13	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ACAGCTCCTTGAGTCGGGCCT	0.587		NaN	T	PDGFRB	MPD								0	0	0	0.00361	0	147	301				
DAAM1	23002	broad.mit.edu	37	14	59791171	59791171	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:59791171A>T	uc001xdz.1	+	8	1113	c.988A>T	c.(988-990)AGG>TGG	p.R330W	DAAM1_uc001xea.1_Missense_Mutation_p.R330W|DAAM1_uc001xeb.1_Missense_Mutation_p.R330W	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	330	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AACATTAGATAGGTAAGTCAG	0.289		NaN											0	0	0	0.001984	0	7	27				
C14orf115	55237	broad.mit.edu	37	14	74825233	74825233	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:74825233G>T	uc001xpw.3	+	2	1938	c.1747G>T	c.(1747-1749)GAT>TAT	p.D583Y		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	583					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GGCTGGCAGGGATGTGACAGC	0.652		NaN											1	0	0.00829132	0.008291	0.0084463	11	108				
KIAA1409	57578	broad.mit.edu	37	14	94004479	94004479	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:94004479C>T	uc001ybv.1	+	9	819	c.736C>T	c.(736-738)CAC>TAC	p.H246Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.H246Y|KIAA1409_uc001ybu.1_Missense_Mutation_p.H184Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	423						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCGGAGACTCACCTCTATCA	0.592		NaN											0	0	0	0.006214	0	10	59				
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:33962623T>G	uc001zhi.2	+	38	5796	c.5726T>G	c.(5725-5727)GTT>GGT	p.V1909G	RYR3_uc010bar.2_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.398		NaN											0	0	0	0.010818	0	16	24				
RYR3	6263	broad.mit.edu	37	15	34080596	34080596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:34080596C>T	uc001zhi.2	+	67	9837	c.9767C>T	c.(9766-9768)GCG>GTG	p.A3256V	RYR3_uc010bar.2_Missense_Mutation_p.A3256V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3256					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGAGTTCGCGGTCCTCTGC	0.567		NaN											0	0	0	0.00245	0	15	86				
RPUSD2	27079	broad.mit.edu	37	15	40861663	40861663	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40861663G>T	uc001zmd.1	+	1	127	c.127G>T	c.(127-129)GTT>TTT	p.V43F		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	43					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTCTACCCAGGTTGGGACAGA	0.627		NaN											1	0	1.10923e-09	0.00278	1.20906e-09	25	40				
CASC5	57082	broad.mit.edu	37	15	40913273	40913273	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40913273A>T	uc010bbs.1	+	11	1050	c.889A>T	c.(889-891)ACT>TCT	p.T297S	CASC5_uc010ucq.1_Missense_Mutation_p.T121S|CASC5_uc001zme.2_Missense_Mutation_p.T271S|CASC5_uc010bbt.1_Missense_Mutation_p.T271S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	297	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAGTAATATTACTAGGCTCTT	0.373		NaN											0	0	0	0.009096	0	4	26				
MGA	23269	broad.mit.edu	37	15	42003201	42003201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:42003201C>T	uc001zog.1	+	8	2829	c.2738C>T	c.(2737-2739)TCA>TTA	p.S913L	MGA_uc010ucy.1_Missense_Mutation_p.S913L|MGA_uc010ucz.1_Missense_Mutation_p.S913L	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	913						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGAACTAAATCATCTTATAAA	0.403		NaN											0	0	0	0.004878	0	38	101				
SPG11	80208	broad.mit.edu	37	15	44951440	44951440	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:44951440G>A	uc001ztx.2	-	3	535	c.504C>T	c.(502-504)ATC>ATT	p.I168I	SPG11_uc010ueh.1_Silent_p.I168I|SPG11_uc010uei.1_Silent_p.I168I|SPG11_uc001zua.1_Silent_p.I168I	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	168	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACATTTGTTGATGAACAGTA	0.358		NaN											0	0	0	0.00499	0	16	53				
SLC27A2	11001	broad.mit.edu	37	15	50526106	50526106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:50526106G>C	uc001zxw.2	+	9	1829	c.1597G>C	c.(1597-1599)GAA>CAA	p.E533Q	SLC27A2_uc010bes.2_Missense_Mutation_p.E480Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.E298Q	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	533	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAAAATGAAAGAAAACCATGA	0.373		NaN											0	0	0	0.001984	0	7	40				
HERC1	8925	broad.mit.edu	37	15	64017588	64017588	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:64017588A>C	uc002amp.2	-	18	3619	c.3471T>G	c.(3469-3471)CTT>CTG	p.L1157L	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1157					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGGAGCCCTGAAGCATGCCAC	0.512		NaN											0	0	0	0.006122	0	19	110				
EDC3	80153	broad.mit.edu	37	15	74963915	74963915	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:74963915T>G	uc002ayn.2	-	6	853	c.365A>C	c.(364-366)GAT>GCT	p.D122A	EDC3_uc002ayo.2_Missense_Mutation_p.D122A|EDC3_uc002aym.2_Missense_Mutation_p.D122A	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						GCTCTTCACATCTGTCCTCTT	0.522		NaN											0	0	0	0.004482	0	9	146				
EFTUD1	79631	broad.mit.edu	37	15	82443993	82443993	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:82443993G>A	uc002bgt.1	-	18	2971	c.2802C>T	c.(2800-2802)TGC>TGT	p.C934C	EFTUD1_uc002bgs.1_Silent_p.C305C|EFTUD1_uc002bgu.1_Silent_p.C883C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	934					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						AGGCCTCAGAGCAGCCATCTT	0.458		NaN											0	0	0	0.001855	0	14	145				
ADAMTSL3	57188	broad.mit.edu	37	15	84581959	84581959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:84581959G>T	uc002bjz.3	+	16	2040	c.1816G>T	c.(1816-1818)GAG>TAG	p.E606*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E606*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E606*	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	606	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGCTGCCCGAGGAAGAGTG	0.637		NaN											1	0	9.16793e-09	0.00499	9.83567e-09	18	66				
NPRL3	8131	broad.mit.edu	37	16	162645	162645	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:162645C>T	uc002cfr.2	-	6	622	c.523G>A	c.(523-525)GAT>AAT	p.D175N	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_5'UTR|NPRL3_uc010uub.1_Missense_Mutation_p.D150N|NPRL3_uc010uuc.1_Missense_Mutation_p.D97N|NPRL3_uc002cfs.1_Missense_Mutation_p.D150N	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	175							protein binding			ovary(1)	1						GACACCTCATCCTGGAGCGCC	0.657		NaN											0	0	0	0.001984	0	7	19				
ATF7IP2	80063	broad.mit.edu	37	16	10566012	10566012	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:10566012G>A	uc002czu.2	+	8	1625	c.1398G>A	c.(1396-1398)TTG>TTA	p.L466L	ATF7IP2_uc002czv.2_Silent_p.L466L|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Silent_p.L10L|ATF7IP2_uc002czw.2_Silent_p.L466L|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GTCCTAATTTGACAACTCCAA	0.284		NaN											0	0	0	0.001368	0	11	15				
XYLT1	64131	broad.mit.edu	37	16	17232337	17232337	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:17232337C>A	uc002dfa.2	-	8	1724	c.1639G>T	c.(1639-1641)GAC>TAC	p.D547Y		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	547	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						AGGTTGTTGTCCACCATGGTG	0.597		NaN											1	0	7.93312e-07	0.00245	8.33054e-07	11	102				
DNAH3	55567	broad.mit.edu	37	16	21133386	21133386	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:21133386G>A	uc010vbe.1	-	10	1464	c.1464C>T	c.(1462-1464)ATC>ATT	p.I488I	DNAH3_uc002die.2_Silent_p.I459I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	488	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTTTGATCATGATTAGCTGAG	0.393		NaN											0	0	0	0.008361	0	31	70				
EEF2K	29904	broad.mit.edu	37	16	22237249	22237249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:22237249G>A	uc002dki.2	+	2	684	c.199G>A	c.(199-201)GAG>AAG	p.E67K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	67					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		AACAAAAAGTGAGCGGTATAG	0.507		NaN											0	0	0	0.007291	0	28	66				
ZNF629	23361	broad.mit.edu	37	16	30795792	30795792	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795792C>G	uc002dzs.1	-	2	220	c.12G>C	c.(10-12)GAG>GAC	p.E4D		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			ACAGCGCAGTCTCGGGCTCCA	0.632		NaN											0	0	0	0.000602	0	5	6				
ZNF629	23361	broad.mit.edu	37	16	30795800	30795800	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795800C>T	uc002dzs.1	-	2	212	c.4G>A	c.(4-6)GAG>AAG	p.E2K		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GTCTCGGGCTCCATCCCAGAG	0.632		NaN											0	0	0	0.004672	0	3	6				
ORAI3	93129	broad.mit.edu	37	16	30964944	30964944	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30964944G>C	uc002eac.2	+	2	873	c.667G>C	c.(667-669)GAG>CAG	p.E223Q		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	223						integral to membrane	protein binding				0						GTCCCAAGCTGAGCCAGCCTG	0.672		NaN									OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	34	373				
SETD1A	9739	broad.mit.edu	37	16	30990892	30990892	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30990892C>A	uc002ead.1	+	14	4471	c.3785C>A	c.(3784-3786)ACC>AAC	p.T1262N		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CTGGCCCTGACCCCTGCCCGG	0.726		NaN											1	0	0.00621372	0.006214	0.00635361	10	36				
FUS	2521	broad.mit.edu	37	16	31195261	31195261	+	Nonsense_Mutation	SNP	C	C	A	rs73530286	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:31195261C>A	uc002ebf.2	+	4	356	c.273C>A	c.(271-273)TAC>TAA	p.Y91*	FUS_uc002ebe.1_Nonsense_Mutation_p.Y91*|FUS_uc002ebh.2_Nonsense_Mutation_p.Y90*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Y91*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	91	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AATCGTCTTACGGGCAGCAGT	0.572		NaN	T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								1	0	4.09656e-53	0.00361	4.80135e-53	133	199				
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57241994G>A	uc002elb.2	+	3	653	c.375G>A	c.(373-375)ATG>ATA	p.M125I	RSPRY1_uc002elc.2_Missense_Mutation_p.M125I|RSPRY1_uc002eld.2_Missense_Mutation_p.M125I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region	zinc ion binding			ovary(1)	1						CCTATTCAATGATAACATTAC	0.294		NaN											0	0	0	0.00361	0	52	110				
GPR56	9289	broad.mit.edu	37	16	57687989	57687989	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57687989T>C	uc002emb.2	+	6	1004	c.712T>C	c.(712-714)TGG>CGG	p.W238R	GPR56_uc002elz.1_Missense_Mutation_p.W68R|GPR56_uc002ema.1_Missense_Mutation_p.W63R|GPR56_uc002emc.2_Missense_Mutation_p.W238R|GPR56_uc002emf.2_Missense_Mutation_p.W238R|GPR56_uc010vhs.1_Missense_Mutation_p.W238R|GPR56_uc002emd.2_Missense_Mutation_p.W238R|GPR56_uc002eme.2_Missense_Mutation_p.W238R|GPR56_uc010vht.1_Missense_Mutation_p.W243R|GPR56_uc002emg.3_Missense_Mutation_p.W238R|GPR56_uc010vhu.1_Missense_Mutation_p.W63R	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	238	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CGCCACGGTGTGGAAGCTCCA	0.652		NaN											0	0	0	0.004007	0	14	114				
SMPD3	55512	broad.mit.edu	37	16	68405651	68405651	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:68405651A>T	uc002ewa.2	-	3	856	c.434T>A	c.(433-435)TTT>TAT	p.F145Y	SMPD3_uc010cfe.2_Missense_Mutation_p.F145Y|SMPD3_uc010vlh.1_Missense_Mutation_p.F145Y	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	145	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTGGGTGTTAAAAAGGTTGTT	0.592		NaN											0	0	0	0.006214	0	9	26				
LRRC50	123872	broad.mit.edu	37	16	84203923	84203923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:84203923G>A	uc002fhl.3	+	8	1670	c.1489G>A	c.(1489-1491)GAG>AAG	p.E497K	LRRC50_uc010vnw.1_Missense_Mutation_p.E261K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	497	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CCTCCCAGCTGAGGCCCCACC	0.627		NaN							Kartagener_syndrome				0	0	0	0.010818	0	32	70				
KIAA0513	9764	broad.mit.edu	37	16	85100858	85100858	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85100858C>T	uc002fiu.2	+	2	401	c.181C>T	c.(181-183)CCC>TCC	p.P61S	KIAA0513_uc002fis.3_Missense_Mutation_p.P61S|KIAA0513_uc010voj.1_Missense_Mutation_p.P61S|KIAA0513_uc002fit.2_Missense_Mutation_p.P61S	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	61						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGGCGAGTCGCCCTCGCACCC	0.632		NaN											0	0	0	0.001168	0	6	98				
KIAA0513	9764	broad.mit.edu	37	16	85114926	85114926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85114926C>G	uc002fiu.2	+	9	1128	c.908C>G	c.(907-909)ACT>AGT	p.T303S	KIAA0513_uc010voj.1_Missense_Mutation_p.T303S	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	303						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGCAGGCACACTCTGAGGTTC	0.567		NaN											0	0	0	0.008871	0	19	22				
GAS8	2622	broad.mit.edu	37	16	90099213	90099213	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:90099213C>G	uc002fqi.1	+	4	498	c.376C>G	c.(376-378)CTG>GTG	p.L126V	GAS8_uc010vps.1_Missense_Mutation_p.L101V|GAS8_uc002fqh.2_Missense_Mutation_p.L43V|GAS8_uc010vpt.1_Missense_Mutation_p.L126V|GAS8_uc010vpu.1_Missense_Mutation_p.L43V|GAS8_uc010vpv.1_Missense_Mutation_p.L97V|GAS8_uc010cjc.1_Missense_Mutation_p.L43V|GAS8_uc010vpw.1_Missense_Mutation_p.L43V|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	126	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGTCATGAAGCTGGCACAGAA	0.552		NaN											0	0	0	0.006214	0	9	166				
SERPINF1	5176	broad.mit.edu	37	17	1680704	1680704	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:1680704C>G	uc002ftl.2	+	8	1378	c.1221C>G	c.(1219-1221)CTC>CTG	p.L407L	SERPINF1_uc010cjw.2_Silent_p.L220L	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	407					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						GGGCCCTTCTCTTCATTGGCA	0.542		NaN											0	0	0	0.009535	0	29	202				
NEURL4	84461	broad.mit.edu	37	17	7222372	7222372	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7222372G>C	uc002gga.1	-	22	3688	c.3681C>G	c.(3679-3681)CTC>CTG	p.L1227L	NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.L1225L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1227	NHR 6.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TACTCACCTTGAGACCGTTGT	0.627		NaN											0	0	0	0.00308	0	7	64				
DNAH2	146754	broad.mit.edu	37	17	7637562	7637562	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7637562G>A	uc002giu.1	+	5	704	c.690G>A	c.(688-690)ATG>ATA	p.M230I	DNAH2_uc002git.2_Missense_Mutation_p.M230I|DNAH2_uc010vuk.1_Missense_Mutation_p.M230I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	230	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATGAACATGAAGCCTGAGA	0.537		NaN											0	0	0	0.004482	0	7	16				
MYOCD	93649	broad.mit.edu	37	17	12656344	12656344	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:12656344C>T	uc002gnn.2	+	10	2038	c.1739C>T	c.(1738-1740)CCT>CTT	p.P580L	MYOCD_uc002gno.2_Missense_Mutation_p.P580L|MYOCD_uc002gnp.1_Missense_Mutation_p.P484L|MYOCD_uc002gnq.2_Missense_Mutation_p.P299L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	580					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCAGCTGTCCTTTTGCATCC	0.512		NaN											0	0	0	0.00308	0	8	122				
DRG2	1819	broad.mit.edu	37	17	17997132	17997132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:17997132G>A	uc002gsh.1	+	2	125	c.70G>A	c.(70-72)GAG>AAG	p.E24K	DRG2_uc010vxg.1_Missense_Mutation_p.E24K|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E24K	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	24					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TTTAGCCACTGAGTATCATCT	0.577		NaN											0	0	0	0.002836	0	31	77				
NOS2	4843	broad.mit.edu	37	17	26087165	26087165	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:26087165C>T	uc002gzu.2	-	25	3314	c.3050G>A	c.(3049-3051)CGC>CAC	p.R1017H		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	1017					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCTGGGCGGCGGCACCCAAA	0.652		NaN									OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	19	104				
NEK8	284086	broad.mit.edu	37	17	27064966	27064966	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:27064966G>C	uc002hcp.2	+	7	1019	c.1019G>C	c.(1018-1020)GGG>GCG	p.G340A		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	340	RCC1 1.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GTGGCAGCTGGGCGCACGCAG	0.672		NaN											0	0	0	0.010729	0	10	163				
EFCAB5	374786	broad.mit.edu	37	17	28417662	28417662	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:28417662T>G	uc002het.2	+	20	4099	c.3907T>G	c.(3907-3909)TCT>GCT	p.S1303A	EFCAB5_uc010cse.2_Missense_Mutation_p.S1058A|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1303							calcium ion binding			ovary(1)|skin(1)	2						TGGCGAGTTCTCTGGAGAGAT	0.383		NaN											0	0	0	0.004656	0	25	94				
AP2B1	163	broad.mit.edu	37	17	33977553	33977553	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:33977553C>A	uc002hjr.2	+	13	1730	c.1541C>A	c.(1540-1542)TCT>TAT	p.S514Y	AP2B1_uc002hjq.2_Missense_Mutation_p.S514Y|AP2B1_uc010wci.1_Missense_Mutation_p.S476Y|AP2B1_uc002hjs.2_Missense_Mutation_p.S457Y|AP2B1_uc002hjt.2_Missense_Mutation_p.S514Y|AP2B1_uc010ctv.2_Missense_Mutation_p.S514Y|AP2B1_uc010wcj.1_Missense_Mutation_p.S251Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	514					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTTTAGGATTCTGATAATCCT	0.438		NaN											1	0	2.14674e-31	0.00361	2.47876e-31	52	82				
PLXDC1	57125	broad.mit.edu	37	17	37265201	37265201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37265201G>C	uc002hrg.2	-	4	637	c.425C>G	c.(424-426)CCT>CGT	p.P142R	PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	142	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						CCCGTAGAAAGGGAAATCAAA	0.617		NaN											0	0	0	0.004007	0	14	29				
FKBP10	60681	broad.mit.edu	37	17	39977232	39977232	+	Silent	SNP	C	C	T	rs143450797	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39977232C>T	uc002hxv.2	+	8	1615	c.1290C>T	c.(1288-1290)CTC>CTT	p.L430L	FKBP10_uc002hxw.1_Silent_p.L194L	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	430	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGCGACTCTCGGGGCCAACA	0.701		NaN											0	0	0	0.009096	0	4	30				
NT5C3L	115024	broad.mit.edu	37	17	39991455	39991455	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39991455T>A	uc002hyc.3	-	3	292	c.283A>T	c.(283-285)AAT>TAT	p.N95Y	NT5C3L_uc002hxx.3_5'Flank|NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hyd.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hxy.3_Missense_Mutation_p.N53Y|NT5C3L_uc002hxz.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hya.3_Missense_Mutation_p.N53Y|KLHL10_uc010cxr.2_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.1_5'Flank	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	5'-nucleotidase, cytosolic III-like	61						cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TGTGACTTACTGTAAGAAGAA	0.388		NaN											0	0	0	0.00361	0	49	72				
MPP2	4355	broad.mit.edu	37	17	41960382	41960382	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41960382G>C	uc010wip.1	-	5	534	c.477C>G	c.(475-477)ACC>ACG	p.T159T	MPP2_uc002ien.1_Silent_p.T131T|MPP2_uc010wim.1_Silent_p.T103T|MPP2_uc002ieo.1_Silent_p.T114T|MPP2_uc010win.1_5'UTR|MPP2_uc010wio.1_Silent_p.T103T|MPP2_uc010czm.1_Silent_p.T97T	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	138	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTGTCTCATAGGTCTTTGAGG	0.632		NaN											0	0	0	0.00308	0	8	98				
NGFR	4804	broad.mit.edu	37	17	47590264	47590264	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590264C>A	uc002ioz.3	+	6	1302	c.1177C>A	c.(1177-1179)CAG>AAG	p.Q393K		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	393	Cytoplasmic (Potential).|Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTGGGCCACCCAGGACAGCGC	0.692		NaN											1	0	7.07758e-08	0.004656	7.47535e-08	28	34				
NGFR	4804	broad.mit.edu	37	17	47590332	47590332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590332G>C	uc002ioz.3	+	6	1370	c.1245G>C	c.(1243-1245)GAG>GAC	p.E415D		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	415	Cytoplasmic (Potential).|Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACCTCGTGGAGAGTCTGTGCA	0.706		NaN											0	0	0	0.010729	0	10	14				
ITGA3	3675	broad.mit.edu	37	17	48156573	48156573	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:48156573C>A	uc010dbl.2	+	20	2998	c.2534C>A	c.(2533-2535)CCC>CAC	p.P845H	ITGA3_uc010dbm.2_Missense_Mutation_p.P845H	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	845	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GGGTCCTGGCCCTGCCGACCA	0.552		NaN											1	0	6.38683e-12	0.008361	7.0462e-12	28	266				
KIF2B	84643	broad.mit.edu	37	17	51900906	51900906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:51900906G>A	uc002iua.2	+	1	668	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	171	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CAGGAGATCCGAGCTAGACGC	0.532		NaN											0	0	0	0.00361	0	87	209				
RNF43	54894	broad.mit.edu	37	17	56435956	56435956	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:56435956G>A	uc002iwf.2	-	8	3137	c.1181C>T	c.(1180-1182)GCA>GTA	p.A394V	RNF43_uc010wnv.1_Missense_Mutation_p.A353V|RNF43_uc002iwh.3_Missense_Mutation_p.A394V|RNF43_uc002iwg.3_Missense_Mutation_p.A394V|RNF43_uc010dcw.2_Missense_Mutation_p.A267V	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	394	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGGGATGTGCAGCTCTGGG	0.682		NaN											0	0	0	0.001168	0	6	26				
BRIP1	83990	broad.mit.edu	37	17	59857637	59857637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:59857637G>C	uc002izk.1	-	13	2061	c.1920C>G	c.(1918-1920)ATC>ATG	p.I640M	BRIP1_uc002izl.1_Missense_Mutation_p.I21M	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	640					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						AATTTTTAATGATATGATTAG	0.333		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.001368	0	12	84				
KCNH6	81033	broad.mit.edu	37	17	61607729	61607729	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:61607729G>A	uc002jay.2	+	4	581	c.501G>A	c.(499-501)GGG>GGA	p.G167G	KCNH6_uc002jax.1_Silent_p.G167G|KCNH6_uc010wpl.1_Silent_p.G44G|KCNH6_uc010wpm.1_Silent_p.G167G|KCNH6_uc002jaz.1_Silent_p.G167G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	167	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GCGGACCAGGGCCAGGCACAG	0.637		NaN											0	0	0	0.008361	0	26	163				
LRRC37A3	374819	broad.mit.edu	37	17	62891163	62891163	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:62891163G>C	uc002jey.2	-	3	2744	c.2213C>G	c.(2212-2214)TCT>TGT	p.S738C	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron|LRRC37A3_uc010dek.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	738	Extracellular (Potential).					integral to membrane					0						CGTGGTTGGAGATGGTTTAAC	0.512		NaN											0	0	0	0.00361	0	55	324				
SLC25A19	60386	broad.mit.edu	37	17	73282503	73282503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73282503G>C	uc002jns.3	-	2	1080	c.170C>G	c.(169-171)GCA>GGA	p.A57G	SLC25A19_uc010dge.2_Missense_Mutation_p.A57G|SLC25A19_uc002jnv.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnu.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnw.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnt.3_Missense_Mutation_p.A57G	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	57	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ATGGTACTTTGCGCTGGGGTC	0.537		NaN											0	0	0	0.00245	0	15	199				
CASKIN2	57513	broad.mit.edu	37	17	73498040	73498040	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73498040G>C	uc002joc.2	-	18	3665	c.3115C>G	c.(3115-3117)CCC>GCC	p.P1039A	CASKIN2_uc010wsc.1_Missense_Mutation_p.P957A	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	1039	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGCTCGGGCTGGGGAAGG	0.697		NaN											0	0	0	0.008291	0	11	148				
EXOC7	23265	broad.mit.edu	37	17	74097809	74097809	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74097809T>C	uc002jqs.2	-	3	357	c.262A>G	c.(262-264)ATC>GTC	p.I88V	EXOC7_uc010dgv.1_Missense_Mutation_p.I35V|EXOC7_uc002jqq.2_Missense_Mutation_p.I88V|EXOC7_uc010wsw.1_Missense_Mutation_p.I88V|EXOC7_uc010wsx.1_Missense_Mutation_p.I88V|EXOC7_uc002jqr.2_Missense_Mutation_p.I88V|EXOC7_uc010wsv.1_Missense_Mutation_p.I47V|EXOC7_uc002jqu.2_Missense_Mutation_p.I88V|EXOC7_uc002jqv.2_Missense_Mutation_p.I88V	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	88					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			TAGTAGCTGATGACATGGTCC	0.547		NaN											0	0	0	0.002836	0	31	285				
MGAT5B	146664	broad.mit.edu	37	17	74936492	74936492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74936492C>T	uc002jti.2	+	12	1723	c.1620C>T	c.(1618-1620)ATC>ATT	p.I540I	MGAT5B_uc002jth.2_Silent_p.I529I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	531	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGCTCTTCATCGGGTTTGGCT	0.662		NaN											0	0	0	0.00361	0	85	180				
SEC14L1	6397	broad.mit.edu	37	17	75189528	75189528	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:75189528C>T	uc002jto.2	+	6	638	c.371C>T	c.(370-372)ACC>ATC	p.T124I	SEC14L1_uc010dhc.2_Missense_Mutation_p.T124I|SEC14L1_uc010wth.1_Missense_Mutation_p.T124I|SEC14L1_uc002jtm.2_Missense_Mutation_p.T124I|SEC14L1_uc010wti.1_Missense_Mutation_p.T90I	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	124	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GAAGATTGGACCTGTTTTGAA	0.358		NaN											0	0	0	0.001168	0	6	92				
CBX4	8535	broad.mit.edu	37	17	77808858	77808858	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:77808858G>C	uc002jxe.2	-	5	746	c.583C>G	c.(583-585)CCC>GCC	p.P195A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	195	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTTGTCGGGCGGGTGGCTC	0.711		NaN									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	19	111				
CARD14	79092	broad.mit.edu	37	17	78162187	78162187	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78162187G>C	uc002jxw.1	+	5	882	c.687G>C	c.(685-687)CTG>CTC	p.L229L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L229L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_5'UTR|CARD14_uc010dhu.1_Silent_p.L27L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	229	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTATCTACTGAAGCAGGAGC	0.587		NaN											0	0	0	0.004289	0	36	43				
SLC26A11	284129	broad.mit.edu	37	17	78195377	78195377	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78195377G>C	uc002jyb.1	+	3	287	c.18G>C	c.(16-18)ACG>ACC	p.T6T	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Silent_p.T6T|SLC26A11_uc002jyd.1_Silent_p.T6T|SLC26A11_uc010dhv.1_Silent_p.T6T	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	6	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTTCGGTGACGGCGCTGGGTC	0.687		NaN											0	0	0	0.012319	0	22	20				
CCDC57	284001	broad.mit.edu	37	17	80115782	80115782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:80115782G>A	uc002kdz.1	-	15	2438	c.2083C>T	c.(2083-2085)CTT>TTT	p.L695F	CCDC57_uc002kdx.1_Missense_Mutation_p.L695F|CCDC57_uc010dik.1_Missense_Mutation_p.L203F	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	695										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCACGGGGAAGCTCACGCTGG	0.642		NaN											0	0	0	0.004672	0	3	18				
EMILIN2	84034	broad.mit.edu	37	18	2891874	2891874	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:2891874G>A	uc002kln.2	+	4	1908	c.1749G>A	c.(1747-1749)TTG>TTA	p.L583L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	583	Potential.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		TGCACCTTTTGAAATCTCTCA	0.458		NaN											0	0	0	0.006122	0	16	174				
LAMA1	284217	broad.mit.edu	37	18	6986291	6986291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:6986291C>T	uc002knm.2	-	37	5318	c.5224G>A	c.(5224-5226)GAA>AAA	p.E1742K	LAMA1_uc010wzj.1_Missense_Mutation_p.E1218K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1742	Domain II and I.|Potential.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCCAATTCTTCCAGCGGC	0.423		NaN											0	0	0	0.009535	0	31	276				
ANKRD12	23253	broad.mit.edu	37	18	9255911	9255912	+	Missense_Mutation	DNP	TA	TA	AG			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:9255911_9255912TA>AG	uc002knv.2	+	9	2903_2904	c.2646_2647TA>AG	c.(2644-2649)CATAAA>CAAGAA	p.882_883HK>QE	ANKRD12_uc002knw.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc002knx.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc010dkx.1_Missense_Mutation_p.589_590HK>QE	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	882_883						nucleus				ovary(2)|central_nervous_system(1)	3						AAAAATGCCATAAAGAAGGTGA	0.332		NaN											0	0	0	0.004672	0	5	51				
MUM1	84939	broad.mit.edu	37	19	1370839	1370839	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1370839A>G	uc010xgm.1	+	11	1817	c.1748A>G	c.(1747-1749)AAG>AGG	p.K583R	MUM1_uc010dsi.2_Missense_Mutation_p.K515R|MUM1_uc002lrz.2_Missense_Mutation_p.K584R|MUM1_uc002lsb.2_Missense_Mutation_p.K515R			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	583					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGGCCAAGGGCGCGGAG	0.662		NaN											0	0	0	0.00308	0	7	7				
PCSK4	54760	broad.mit.edu	37	19	1482190	1482190	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482190G>T	uc002ltb.1	-	15	1898	c.1836C>A	c.(1834-1836)GCC>GCA	p.A612A	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|PCSK4_uc002lsz.2_Silent_p.A99A|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	612					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATGTAGGCGGGGCCGT	0.716		NaN											1	0	6.4e-05	0.004672	6.62005e-05	2	3				
PCSK4	54760	broad.mit.edu	37	19	1482922	1482922	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482922C>G	uc002ltb.1	-	13	1731	c.1669G>C	c.(1669-1671)GAG>CAG	p.E557Q	PCSK4_uc002lsz.2_Missense_Mutation_p.E44Q|PCSK4_uc002lta.2_Intron	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	557					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTTGTTCTCTAGGCCCAGG	0.627		NaN											0	0	0	0.00499	0	16	34				
REXO1	57455	broad.mit.edu	37	19	1827792	1827792	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1827792G>A	uc002lua.3	-	2	1091	c.996C>T	c.(994-996)GGC>GGT	p.G332G	REXO1_uc010dsr.1_Silent_p.G286G	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	332						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCAGGCCGCCCCCCTCGG	0.731		NaN											0	0	0	0.006214	0	8	8				
AP3D1	8943	broad.mit.edu	37	19	2102196	2102196	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2102196C>T	uc002luz.2	-	30	3661	c.3438G>A	c.(3436-3438)ATG>ATA	p.M1146I	AP3D1_uc010dsv.2_Missense_Mutation_p.M236I|AP3D1_uc002luy.2_Missense_Mutation_p.M1105I|AP3D1_uc002lva.2_Missense_Mutation_p.M1208I	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1146					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCGCCTTCATCTCTTCTA	0.572		NaN											0	0	0	0.00361	0	146	158				
ZNF555	148254	broad.mit.edu	37	19	2852510	2852510	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2852510A>G	uc002lwo.2	+	4	536	c.447A>G	c.(445-447)GGA>GGG	p.G149G	ZNF555_uc002lwn.3_Silent_p.G148G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGTACGGAAAAGTCTTCA	0.458		NaN											0	0	0	0.001368	0	11	120				
PIAS4	51588	broad.mit.edu	37	19	4037409	4037409	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:4037409G>A	uc002lzg.2	+	10	1190	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	394					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGACGCCGACGAGATCGA	0.701		NaN											0	0	0	0.003163	0	14	32				
MUC16	94025	broad.mit.edu	37	19	9021060	9021060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:9021060C>A	uc002mkp.2	-	19	37467	c.37263G>T	c.(37261-37263)CAG>CAT	p.Q12421H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12423	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCACCAGACCCTGCAGGACCC	0.547		NaN											1	0	7.03913e-09	0.001368	7.59668e-09	13	183				
TNPO2	30000	broad.mit.edu	37	19	12817453	12817453	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:12817453T>C	uc002muo.2	-	13	1612	c.1427A>G	c.(1426-1428)AAG>AGG	p.K476R	TNPO2_uc002mup.2_Missense_Mutation_p.K568R|TNPO2_uc002muq.2_Missense_Mutation_p.K476R|TNPO2_uc002mur.2_Missense_Mutation_p.K476R|SNORD41_uc002mut.1_5'Flank	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	476	HEAT 8.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						CATCAGGGGCTTGAGGTGCAT	0.637		NaN											0	0	0	0.00308	0	7	77				
AKAP8L	26993	broad.mit.edu	37	19	15512114	15512114	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:15512114G>C	uc002naw.1	-	5	762	c.663C>G	c.(661-663)CTC>CTG	p.L221L	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.L160L|AKAP8L_uc002nay.1_Silent_p.L221L|AKAP8L_uc002naz.2_Silent_p.L69L	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	221						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						TCTGGGAGAAGAGGGAGGGCA	0.672		NaN											0	0	0	0.00361	0	87	93				
IL12RB1	3594	broad.mit.edu	37	19	18174753	18174753	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18174753C>T	uc002nhw.1	-	13	1615	c.1551G>A	c.(1549-1551)ACG>ACA	p.T517T	IL12RB1_uc010xqb.1_Silent_p.T517T|IL12RB1_uc002nhx.1_Silent_p.T557T	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	517	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						GCACCTGCACCGTGTAGGCTA	0.632		NaN											0	0	0	0.001368	0	11	21				
KIAA1683	80726	broad.mit.edu	37	19	18375916	18375916	+	Missense_Mutation	SNP	C	C	T	rs140540623		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18375916C>T	uc002nin.2	-	3	2650	c.2434G>A	c.(2434-2436)GTG>ATG	p.V812M	KIAA1683_uc010ebn.2_Missense_Mutation_p.V812M|KIAA1683_uc010xqe.1_Missense_Mutation_p.V766M	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	812						mitochondrion				ovary(2)	2						TTCCCCGGCACGTGTCCGTGG	0.687		NaN											0	0	0	0.004007	0	15	100				
NCAN	1463	broad.mit.edu	37	19	19337300	19337300	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:19337300C>T	uc002nlz.2	+	7	1177	c.1078C>T	c.(1078-1080)CAC>TAC	p.H360Y	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	360					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CACAGCTCATCACCCCACGTC	0.562		NaN											0	0	0	0.001368	0	13	110				
ZNF93	81931	broad.mit.edu	37	19	20045094	20045094	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20045094G>A	uc002non.2	+	4	1441	c.1330G>A	c.(1330-1332)GAG>AAG	p.E444K		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	444	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						TAGTAAACATGAGATCATTCA	0.388		NaN											0	0	0	0.00333	0	23	41				
ZNF682	91120	broad.mit.edu	37	19	20135146	20135146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20135146G>C	uc002noq.2	-	2	166	c.43C>G	c.(43-45)CTG>GTG	p.L15V	ZNF682_uc002noo.2_5'UTR|ZNF682_uc002nop.2_5'UTR|ZNF682_uc010eck.2_Intron	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CACTCCTCCAGAGAGAATTCT	0.433		NaN											0	0	0	0.003954	0	25	58				
ZNF257	113835	broad.mit.edu	37	19	22271880	22271880	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:22271880C>A	uc010ecx.2	+	4	1497	c.1328C>A	c.(1327-1329)TCT>TAT	p.S443Y	ZNF257_uc010ecy.2_Missense_Mutation_p.S411Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	443	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTAACCGGTCTTCATACCTT	0.408		NaN											1	0	0.000219431	0.00245	0.000226068	15	22				
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:35793494G>A	uc002nyy.1	+	7	1263	c.1114G>A	c.(1114-1116)GAG>AAG	p.E372K	MAG_uc002nyx.1_Missense_Mutation_p.E372K|MAG_uc010eds.1_Missense_Mutation_p.E347K|MAG_uc002nyz.1_Missense_Mutation_p.E372K	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	372	Ig-like C2-type 3.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587		NaN											0	0	0	0.007291	0	28	137				
DPF1	8193	broad.mit.edu	37	19	38709684	38709684	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:38709684G>A	uc002ohl.2	-	4	421	c.394C>T	c.(394-396)CTG>TTG	p.L132L	DPF1_uc002ohm.2_Silent_p.L132L|DPF1_uc002ohn.2_Silent_p.L50L|DPF1_uc010xtu.1_Silent_p.L106L|DPF1_uc010xtv.1_Silent_p.L106L|DPF1_uc010xtw.1_Silent_p.L106L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	132					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTTCTTCAGGGGTGCTTCA	0.612		NaN											0	0	0	0.007835	0	38	270				
LGALS4	3960	broad.mit.edu	37	19	39292958	39292958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:39292958C>G	uc002ojg.2	-	8	871	c.657G>C	c.(655-657)AAG>AAC	p.K219N		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	219	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGTTATACCTCTTGCCTGTGG	0.328		NaN											0	0	0	0.00361	0	171	121				
CCDC97	90324	broad.mit.edu	37	19	41822706	41822706	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41822706G>A	uc002oqg.2	+	2	586	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	155											0						ACCCGCCTGCGTAACCGGCGC	0.677		NaN											0	0	0	0.00361	0	44	61				
BCKDHA	593	broad.mit.edu	37	19	41930481	41930481	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41930481G>A	uc002oqq.2	+	9	1335	c.1306G>A	c.(1306-1308)GAG>AAG	p.E436K	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.E470K|BCKDHA_uc002oqr.2_Missense_Mutation_p.E435K|BCKDHA_uc010xvz.1_Missense_Mutation_p.E439K	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	436					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GACCTACGGGGAGCACTACCC	0.617		NaN											0	0	0	0.00874	0	38	149				
POU2F2	5452	broad.mit.edu	37	19	42600386	42600386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42600386G>A	uc002osp.2	-	8	578	c.511C>T	c.(511-513)CGC>TGC	p.R171C	POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.R171C	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	171					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				AGCGTAGGGCGGGTCACGGCC	0.706		NaN											0	0	0	0.000602	0	5	23				
PSG7	5676	broad.mit.edu	37	19	43441225	43441225	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:43441225C>A	uc002ovl.3	-	1	106	c.4G>T	c.(4-6)GGG>TGG	p.G2W	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.G2W	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	2					female pregnancy	extracellular region					0		Prostate(69;0.00682)				GAGAGGGGCCCCATGGTCTCT	0.572		NaN											1	0	2.38352e-08	0.004289	2.5322e-08	34	161				
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:46216533G>C	uc002pcy.2	-	2	346	c.221C>G	c.(220-222)TCA>TGA	p.S74*	FBXO46_uc002pcz.2_Nonsense_Mutation_p.S74*	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	74							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642		NaN											0	0	0	0.003163	0	13	114				
GRLF1	2909	broad.mit.edu	37	19	47440614	47440614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440614A>T	uc010ekv.2	+	2	3775	c.3775A>T	c.(3775-3777)AAG>TAG	p.K1259*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1259	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GACTCCAGAGAAGCCGATCCC	0.443		NaN											0	0	0	0.006214	0	9	113				
GRLF1	2909	broad.mit.edu	37	19	47440617	47440617	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440617C>G	uc010ekv.2	+	2	3778	c.3778C>G	c.(3778-3780)CCG>GCG	p.P1260A		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1260	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		TCCAGAGAAGCCGATCCCCAT	0.443		NaN											0	0	0	0.006214	0	9	114				
MAMSTR	284358	broad.mit.edu	37	19	49218558	49218558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49218558G>C	uc002pkg.2	-	5	448	c.386C>G	c.(385-387)TCT>TGT	p.S129C	MAMSTR_uc002pkf.2_Missense_Mutation_p.S26C	NM_001130915	NP_001124387	Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing	129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			ovary(1)	1						TTCCCACAGAGATGGCCCAGG	0.627		NaN											0	0	0	0.000602	0	3	9				
FUT1	2523	broad.mit.edu	37	19	49254435	49254435	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49254435C>T	uc002pkk.2	-	4	1079	c.104G>A	c.(103-105)GGC>GAC	p.G35D		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	35	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGCCTAGGCCATGTGGAAA	0.602		NaN											0	0	0	0.004656	0	23	93				
TSKS	60385	broad.mit.edu	37	19	50266516	50266516	+	Splice_Site	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:50266516C>T	uc002ppm.2	-	1	1	c.-10_splice	c.e1-1			NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate								protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGTGGGGGTCTGGCTCCCAG	0.632		NaN											0	0	0	0.00632	0	27	115				
TMEM150B	284417	broad.mit.edu	37	19	55824329	55824329	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:55824329G>A	uc010esw.1	-	8	773	c.600C>T	c.(598-600)GCC>GCT	p.A200A	TMEM150B_uc010yfu.1_Silent_p.A200A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	200	Helical; (Potential).					integral to membrane					0						AGAAGTCAACGGCTAAGAGAC	0.682		NaN											0	0	0	0.004672	0	3	34				
ZNF471	57573	broad.mit.edu	37	19	57037045	57037045	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57037045C>G	uc002qnh.2	+	5	1742	c.1609C>G	c.(1609-1611)CAT>GAT	p.H537D		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	537	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAGAAAACTCATACAGGAGA	0.393		NaN											0	0	0	0.006214	0	9	93				
ZNF460	10794	broad.mit.edu	37	19	57803086	57803086	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57803086G>C	uc002qog.2	+	3	1499	c.1177G>C	c.(1177-1179)GAG>CAG	p.E393Q	ZNF460_uc010ygv.1_Missense_Mutation_p.E352Q	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	393	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCCTTTTGAGTGCAAAGA	0.468		NaN											0	0	0	0.003271	0	35	133				
ZNF551	90233	broad.mit.edu	37	19	58198132	58198132	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58198132G>A	uc002qpw.3	+	3	664	c.441G>A	c.(439-441)AAG>AAA	p.K147K	ZNF551_uc002qpv.3_Silent_p.K90K|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAAGGAAGGTGGATGAGG	0.507		NaN											0	0	0	0.00361	0	119	94				
ZNF274	10782	broad.mit.edu	37	19	58723904	58723904	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58723904C>A	uc002qrq.1	+	10	1816	c.1357C>A	c.(1357-1359)CGT>AGT	p.R453S	ZNF274_uc002qrr.1_Missense_Mutation_p.R421S|ZNF274_uc002qrs.1_Missense_Mutation_p.R348S|ZNF274_uc010eum.1_Missense_Mutation_p.R212S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	453					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATTGCGCAAACGTGACTCACA	0.423		NaN											1	0	4.68919e-08	0.008291	4.972e-08	11	163				
FAM110C	642273	broad.mit.edu	37	2	45650	45650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:45650G>A	uc010yim.1	-	1	736	c.736C>T	c.(736-738)CTC>TTC	p.L246F		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	246						microtubule|microtubule organizing center|spindle pole					0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCACCTTGAGGGTCACACAG	0.687		NaN											0	0	0	0.004672	0	3	31				
NBAS	51594	broad.mit.edu	37	2	15448382	15448382	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:15448382T>A	uc002rcc.1	-	40	4781	c.4755A>T	c.(4753-4755)CGA>CGT	p.R1585R	NBAS_uc010exl.1_Silent_p.R657R|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1585										ovary(2)|liver(1)|skin(1)	4						ATGGGGCCAATCGGGCATAGA	0.463		NaN											0	0	0	0.001984	0	7	89				
SPAST	6683	broad.mit.edu	37	2	32340842	32340842	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:32340842G>A	uc002roc.2	+	6	1163	c.942G>A	c.(940-942)TTG>TTA	p.L314L	SPAST_uc002rod.2_Silent_p.L282L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	314	Required for interaction with microtubules and microtubule severing.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAAAGACTTGAAGAATTTTA	0.303		NaN											0	0	0	0.002836	0	30	48				
THADA	63892	broad.mit.edu	37	2	43808919	43808919	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:43808919A>G	uc002rsw.3	-	8	1034	c.682T>C	c.(682-684)TGT>CGT	p.C228R	THADA_uc002rsx.3_Missense_Mutation_p.C228R|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.C228R|THADA_uc002rtc.3_Missense_Mutation_p.C228R|THADA_uc002rtd.2_Missense_Mutation_p.C228R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	228							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAATCCACACATATTTTGC	0.333		NaN											0	0	0	0.004482	0	8	72				
MSH6	2956	broad.mit.edu	37	2	48027760	48027760	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:48027760G>T	uc002rwd.3	+	4	2790	c.2638G>T	c.(2638-2640)GAT>TAT	p.D880Y	MSH6_uc002rwc.2_Missense_Mutation_p.D880Y|MSH6_uc010fbj.2_Missense_Mutation_p.D578Y|MSH6_uc010yoi.1_Missense_Mutation_p.D750Y|MSH6_uc010yoj.1_Missense_Mutation_p.D578Y	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	880					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGAAGTTGCTGATGGTTTTAA	0.363		NaN	Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				1	0	1.96895e-08	0.00278	2.09585e-08	23	120				
NRXN1	9378	broad.mit.edu	37	2	51254845	51254845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:51254845G>A	uc010fbq.2	-	2	2044	c.567C>T	c.(565-567)GTC>GTT	p.V189V	NRXN1_uc002rxe.3_Silent_p.V189V|NRXN1_uc002rxd.1_Silent_p.V189V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGAGGAGTTGACCCTCACGT	0.721		NaN											0	0	0	0.003163	0	13	11				
C2orf63	130162	broad.mit.edu	37	2	55407749	55407749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55407749G>T	uc002ryi.2	-	11	1627	c.1281C>A	c.(1279-1281)TAC>TAA	p.Y427*	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Nonsense_Mutation_p.Y305*	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	427							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			CACATTCACTGTAGACAATCT	0.448		NaN											1	0	7.88023e-25	0.00361	8.94735e-25	49	76				
CCDC104	112942	broad.mit.edu	37	2	55764680	55764680	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55764680A>G	uc002ryy.2	+	7	797	c.599A>G	c.(598-600)AAT>AGT	p.N200S	CCDC104_uc002ryx.2_Missense_Mutation_p.N225S	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	200										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAATGAATAATTCCCAAGGG	0.373		NaN											0	0	0	0.001984	0	6	101				
USP34	9736	broad.mit.edu	37	2	61622358	61622358	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:61622358G>A	uc002sbe.2	-	4	585	c.563C>T	c.(562-564)ACT>ATT	p.T188I		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	188					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTTTCTTGAGTTGATATATC	0.229		NaN											0	0	0	0.006214	0	10	11				
ETAA1	54465	broad.mit.edu	37	2	67630594	67630594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:67630594G>C	uc002sdz.1	+	5	919	c.780G>C	c.(778-780)AAG>AAC	p.K260N		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	260						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						GAAACACCAAGATATCTGTGG	0.313		NaN											0	0	0	0.00245	0	15	87				
ARHGAP25	9938	broad.mit.edu	37	2	69002357	69002357	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:69002357G>T	uc002seu.2	+	2	430	c.66G>T	c.(64-66)CGG>CGT	p.R22R	ARHGAP25_uc010yqk.1_5'UTR|ARHGAP25_uc010fdg.2_Silent_p.R22R|ARHGAP25_uc010yql.1_Silent_p.R22R|ARHGAP25_uc002sev.2_Silent_p.R15R|ARHGAP25_uc002sew.2_Silent_p.R15R|ARHGAP25_uc002sex.2_Silent_p.R15R|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	22					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CTATAGCTCGGTCAAGGAGTG	0.612		NaN											1	0	6.27289e-28	0.00361	7.1822e-28	45	599				
LOXL3	84695	broad.mit.edu	37	2	74779494	74779494	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:74779494C>G	uc002smp.1	-	2	340	c.268G>C	c.(268-270)GAG>CAG	p.E90Q	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.E90Q|LOXL3_uc002smq.1_Missense_Mutation_p.E90Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E90Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	90	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CCTGTGGCCTCTGTGAAGCCC	0.572		NaN											0	0	0	0.006122	0	16	85				
GGCX	2677	broad.mit.edu	37	2	85778102	85778102	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:85778102C>G	uc002sps.2	-	13	1940	c.1834G>C	c.(1834-1836)GAG>CAG	p.E612Q	GGCX_uc010yss.1_Missense_Mutation_p.E428Q|GGCX_uc010yst.1_Missense_Mutation_p.E555Q	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	612	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGTCTTGCTCCAGTGCAAGC	0.453		NaN											0	0	0	0.00361	0	101	120				
ANKRD36	375248	broad.mit.edu	37	2	97866233	97866233	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:97866233A>G	uc010yva.1	+	46	3072	c.2828A>G	c.(2827-2829)GAA>GGA	p.E943G	ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	943											0						ATAACCAGAGAAAAAAAGGAT	0.323		NaN											0	0	0	0.004672	0	2	11				
C2orf55	343990	broad.mit.edu	37	2	99463218	99463218	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:99463218C>T	uc002szf.1	-	2	340	c.46G>A	c.(46-48)GAA>AAA	p.E16K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	16											0						CCAAGGCCTTCTGCAGCCTCC	0.527		NaN											0	0	0	0.00361	0	43	76				
GPR45	11250	broad.mit.edu	37	2	105859329	105859329	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:105859329G>A	uc002tco.1	+	1	1130	c.1014G>A	c.(1012-1014)TTG>TTA	p.L338L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	338	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GCATAGAGTTGCTGCCCCAGA	0.547		NaN											0	0	0	0.008871	0	21	195				
BUB1	699	broad.mit.edu	37	2	111399043	111399043	+	Splice_Site	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:111399043T>C	uc002tgc.2	-	22	2738	c.2626_splice	c.e22-1	p.N876_splice	BUB1_uc010yxh.1_Splice_Site_p.N856_splice|BUB1_uc010fkb.2_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1						apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATGGCATTCTAGGAACAATG	0.403		NaN											0	0	0	0.006999	0	37	105				
ZC3H6	376940	broad.mit.edu	37	2	113089651	113089651	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:113089651G>A	uc002thq.1	+	12	3550	c.3156G>A	c.(3154-3156)AGG>AGA	p.R1052R		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	1052							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						ATGACCCTAGGGATCACGGTT	0.453		NaN											0	0	0	0.005443	0	25	40				
INSIG2	51141	broad.mit.edu	37	2	118854145	118854145	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:118854145G>C	uc002tlk.2	+	2	219	c.13G>C	c.(13-15)GAG>CAG	p.E5Q	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	5					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		p.E5K(1)		ovary(1)|central_nervous_system(1)	2						GGCAGAAGGAGAGACAGAGTC	0.418		NaN											0	0	0	0.002299	0	24	54				
PCDP1	200373	broad.mit.edu	37	2	120385260	120385260	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120385260G>C	uc002tmb.2	+	17	1782	c.690G>C	c.(688-690)CGG>CGC	p.R230R	PCDP1_uc010yyq.1_Silent_p.R360R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	516						cilium	calmodulin binding				0	Colorectal(110;0.196)					TCCTGAGGCGGATCAGTCAGG	0.483		NaN											0	0	0	0.009535	0	30	227				
PTPN4	5775	broad.mit.edu	37	2	120725515	120725515	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120725515G>A	uc002tmf.1	+	26	3432	c.2661G>A	c.(2659-2661)ATG>ATA	p.M887I	PTPN4_uc010flj.1_Missense_Mutation_p.M600I|PTPN4_uc010yyr.1_Missense_Mutation_p.M520I	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	887	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	TAAGAACAATGAGAGATCAGC	0.373		NaN											0	0	0	0.00361	0	52	85				
GLI2	2736	broad.mit.edu	37	2	121747003	121747003	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:121747003G>C	uc010flp.2	+	13	3543	c.3513G>C	c.(3511-3513)CTG>CTC	p.L1171L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.L843L|GLI2_uc002tmu.3_Silent_p.L826L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1171					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGGGCAACCTGGCGGTGGTGC	0.632		NaN											0	0	0	0.000602	0	5	67				
CCDC74A	90557	broad.mit.edu	37	2	132290451	132290451	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:132290451G>C	uc002tta.2	+	6	943	c.891G>C	c.(889-891)AAG>AAC	p.K297N	CCDC74A_uc002ttb.2_Missense_Mutation_p.K231N	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	297										skin(1)	1						GGCACCTCAAGTCCCTCCTGG	0.697		NaN											0	0	0	0.00308	0	8	97				
LCT	3938	broad.mit.edu	37	2	136575162	136575163	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:136575162_136575163CC>TG	uc002tuu.1	-	6	1466_1467	c.1455_1456GG>CA	c.(1453-1458)CAGGAT>CACAAT	p.485_486QD>HN		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	485_486	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGCCCGCATCCTGTAGCCTGT	0.614		NaN											0	0	0	0.004672	0	9	86				
LRP1B	53353	broad.mit.edu	37	2	141092027	141092027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141092027G>A	uc002tvj.1	-	79	13190	c.12218C>T	c.(12217-12219)CCC>CTC	p.P4073L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4073	Extracellular (Potential).|LDL-receptor class B 35.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATACCTGTGGGTCTCTGTAA	0.363		NaN								TSP Lung(27;0.18)			0	0	0	0.002836	0	35	67				
LRP1B	53353	broad.mit.edu	37	2	141130656	141130656	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141130656A>C	uc002tvj.1	-	69	11661	c.10689T>G	c.(10687-10689)GGT>GGG	p.G3563G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3563	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATACACTGACCATTGGAAC	0.353		NaN								TSP Lung(27;0.18)			0	0	0	0.001984	0	7	98				
ERMN	57471	broad.mit.edu	37	2	158178129	158178129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:158178129A>G	uc002tzh.2	-	3	771	c.509T>C	c.(508-510)ATG>ACG	p.M170T	ERMN_uc010zcj.1_Missense_Mutation_p.M64T|ERMN_uc010zck.1_Missense_Mutation_p.M150T|ERMN_uc002tzi.2_Missense_Mutation_p.M183T	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform b	170						cytoplasm|cytoskeleton				ovary(1)|skin(1)	2						AGAATGTAACATGTCAGCTTG	0.353		NaN											0	0	0	0.006999	0	40	220				
CCDC148	130940	broad.mit.edu	37	2	159035486	159035486	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159035486A>G	uc002tzq.2	-	12	1656	c.1393T>C	c.(1393-1395)TTG>CTG	p.L465L	CCDC148_uc002tzr.2_Silent_p.L313L|CCDC148_uc010foh.2_Silent_p.L178L	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	465										ovary(2)	2						CGCCTTTCCAATAATTCTTGT	0.403		NaN											0	0	0	0.004656	0	25	39				
PKP4	8502	broad.mit.edu	37	2	159477589	159477589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159477589G>C	uc002tzv.2	+	5	628	c.368G>C	c.(367-369)GGA>GCA	p.G123A	PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.G123A|PKP4_uc002tzw.2_Missense_Mutation_p.G123A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.G123A|PKP4_uc002uaa.2_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	123					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CCAGAACAAGGAACCCTCTAT	0.408		NaN								HNSCC(62;0.18)			0	0	0	0.001168	0	6	102				
BAZ2B	29994	broad.mit.edu	37	2	160257136	160257136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:160257136C>G	uc002uao.2	-	17	3224	c.2872G>C	c.(2872-2874)GAA>CAA	p.E958Q	BAZ2B_uc002uap.2_Missense_Mutation_p.E922Q|BAZ2B_uc002uaq.1_Missense_Mutation_p.E788Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	958	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GCTCGAAGTTCTTTTTCCATT	0.244		NaN											0	0	0	0.001368	0	13	39				
SCN2A	6326	broad.mit.edu	37	2	166231228	166231228	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:166231228T>A	uc002udc.2	+	22	4296	c.4006T>A	c.(4006-4008)TCT>ACT	p.S1336T	SCN2A_uc002udd.2_Missense_Mutation_p.S1336T|SCN2A_uc002ude.2_Missense_Mutation_p.S1336T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1336	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCCATTCCATCTATCATGAA	0.333		NaN											0	0	0	0.00308	0	7	111				
MAP1D	254042	broad.mit.edu	37	2	172945092	172945092	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:172945092G>A	uc002uhk.2	+	10	1039	c.966G>A	c.(964-966)TCG>TCA	p.S322S	MAP1D_uc010zdw.1_Silent_p.S204S	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	322					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGATCACGTCGAGGGGCGCGC	0.612		NaN											0	0	0	0.00361	0	255	167				
TTN	7273	broad.mit.edu	37	2	179417524	179417524	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:179417524G>A	uc010zfg.1	-	284	82623	c.82399C>T	c.(82399-82401)CGT>TGT	p.R27467C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21162C|TTN_uc010zfi.1_Missense_Mutation_p.R21095C|TTN_uc010zfj.1_Missense_Mutation_p.R20970C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAGATCACGTATAGGAGCT	0.438		NaN											0	0	0	0.008291	0	10	100				
PMS1	5378	broad.mit.edu	37	2	190718686	190718686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718686C>G	uc002urh.3	+	8	1373	c.844C>G	c.(844-846)CTG>GTG	p.L282V	PMS1_uc010zga.1_Missense_Mutation_p.L243V|PMS1_uc010zgb.1_Missense_Mutation_p.L221V|PMS1_uc002urk.3_Missense_Mutation_p.L243V|PMS1_uc002uri.3_Missense_Mutation_p.L282V|PMS1_uc010zgc.1_Missense_Mutation_p.L106V|PMS1_uc010zgd.1_Missense_Mutation_p.L106V|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L243V|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L67V|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Translation_Start_Site	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	282					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCATTACAATCTGAAATGCCT	0.279		NaN	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					0	0	0	0.00308	0	6	57				
PMS1	5378	broad.mit.edu	37	2	190718983	190718983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718983C>T	uc002urh.3	+	9	1514	c.985C>T	c.(985-987)CTT>TTT	p.L329F	PMS1_uc010zga.1_Missense_Mutation_p.L290F|PMS1_uc010zgb.1_Missense_Mutation_p.L268F|PMS1_uc002urk.3_Missense_Mutation_p.L290F|PMS1_uc002uri.3_Missense_Mutation_p.L329F|PMS1_uc010zgc.1_Missense_Mutation_p.L153F|PMS1_uc010zgd.1_Missense_Mutation_p.L153F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L290F|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L114F|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	329					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTTAATTGCTCTTGAAAATCT	0.254		NaN	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					0	0	0	0.004482	0	9	47				
MDH1B	130752	broad.mit.edu	37	2	207619970	207619970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:207619970G>C	uc002vbs.2	-	5	728	c.673C>G	c.(673-675)CTG>GTG	p.L225V	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.L225V|MDH1B_uc010fuj.2_Missense_Mutation_p.L127V|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	225					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAGTCCTCCAGAGTGAACACC	0.577		NaN											0	0	0	0.00874	0	44	35				
KIAA1486	57624	broad.mit.edu	37	2	226447337	226447337	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:226447337G>C	uc002voe.2	+	4	1379	c.1204G>C	c.(1204-1206)GGA>CGA	p.G402R	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G172R	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	402	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CGCGGCCCTGGGACCTGCCTC	0.667		NaN											0	0	0	0.000602	0	5	4				
CSNK2A1	1457	broad.mit.edu	37	20	469337	469337	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:469337T>C	uc002wdw.1	-	11	1202	c.809A>G	c.(808-810)AAT>AGT	p.N270S	CSNK2A1_uc002wdx.1_Missense_Mutation_p.N270S|CSNK2A1_uc002wdy.1_Missense_Mutation_p.N134S	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	270	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAAGATATCATTGAAACGTGG	0.358		NaN											0	0	0	0.00361	0	47	33				
C20orf194	25943	broad.mit.edu	37	20	3305600	3305600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:3305600C>A	uc002wii.2	-	14	1255	c.1204G>T	c.(1204-1206)GAG>TAG	p.E402*	C20orf194_uc002wij.3_Nonsense_Mutation_p.E141*|C20orf194_uc002wik.2_Nonsense_Mutation_p.E76*|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	402											0						AGAGTTTGCTCTGCTACCTCC	0.413		NaN											1	0	3.03874e-20	0.003271	3.42881e-20	36	114				
PLCB4	5332	broad.mit.edu	37	20	9400495	9400495	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:9400495C>T	uc002wnf.2	+	24	2193	c.2057C>T	c.(2056-2058)ACA>ATA	p.T686I	PLCB4_uc010gbw.1_Missense_Mutation_p.T686I|PLCB4_uc010gbx.2_Missense_Mutation_p.T698I|PLCB4_uc002wne.2_Missense_Mutation_p.T686I|PLCB4_uc002wnh.2_Missense_Mutation_p.T533I	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	686					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						CCTGATCGAACATTTGACCCC	0.433		NaN											0	0	0	0.00333	0	23	277				
ASXL1	171023	broad.mit.edu	37	20	31023699	31023699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:31023699C>T	uc002wxs.2	+	12	3610	c.3184C>T	c.(3184-3186)CCT>TCT	p.P1062S	ASXL1_uc010geb.2_Missense_Mutation_p.P953S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1062					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GATGGTTGCTCCTCAGAGCTG	0.547		NaN	F|N|Mis		MDS|CMML								0	0	0	0.00361	0	93	156				
EDEM2	55741	broad.mit.edu	37	20	33719493	33719493	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:33719493T>A	uc002xbo.2	-	7	896	c.796A>T	c.(796-798)AAA>TAA	p.K266*	EDEM2_uc010zuv.1_Nonsense_Mutation_p.K225*|EDEM2_uc010zus.1_Nonsense_Mutation_p.K45*|EDEM2_uc002xbq.2_Nonsense_Mutation_p.K229*|EDEM2_uc010zut.1_Nonsense_Mutation_p.K225*|EDEM2_uc002xbp.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbn.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbr.2_Intron|EDEM2_uc010zuu.1_5'UTR	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	266					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGGCTCCTTTCACCAAGTAC	0.527		NaN											0	0	0	0.005524	0	40	357				
L3MBTL	26013	broad.mit.edu	37	20	42159033	42159033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:42159033C>A	uc010zwh.1	+	10	1146	c.1100C>A	c.(1099-1101)ACG>AAG	p.T367K	L3MBTL_uc002xkl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkm.2_Missense_Mutation_p.T299K|L3MBTL_uc010ggl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkn.1_Missense_Mutation_p.T58K|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	299	MBT 1.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCGAGAAGACGGGCCACAAG	0.577		NaN											1	0	6.49762e-13	0.006122	7.19757e-13	16	220				
MATN4	8785	broad.mit.edu	37	20	43932954	43932954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:43932954G>A	uc002xnn.2	-	3	744	c.557C>T	c.(556-558)TCG>TTG	p.S186L	MATN4_uc002xno.2_Missense_Mutation_p.S186L|MATN4_uc002xnp.2_Missense_Mutation_p.S186L|MATN4_uc010zwr.1_Missense_Mutation_p.S134L|MATN4_uc002xnr.1_Missense_Mutation_p.S186L|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	186	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TAGCGGGGGCGATGCCATGGC	0.682		NaN											0	0	0	0.00361	0	49	76				
WFDC8	90199	broad.mit.edu	37	20	44181845	44181845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:44181845G>A	uc002xow.2	-	5	595	c.516C>T	c.(514-516)GAC>GAT	p.D172D	WFDC8_uc002xox.2_Silent_p.D172D	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8 precursor	172	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GACAATCGATGTCACTGTGAC	0.463		NaN											0	0	0	0.00308	0	8	132				
SLC2A10	81031	broad.mit.edu	37	20	45354635	45354635	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:45354635C>A	uc002xsl.2	+	2	1057	c.960C>A	c.(958-960)GCC>GCA	p.A320A		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	320	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCAGCTTTGCCGTGCCCATGG	0.657		NaN											1	0	1.10923e-09	0.00278	1.20906e-09	22	114				
ADRM1	11047	broad.mit.edu	37	20	60882815	60882815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:60882815C>T	uc002ycn.2	+	7	867	c.787C>T	c.(787-789)CAG>TAG	p.Q263*	ADRM1_uc002yco.2_Nonsense_Mutation_p.Q263*	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	263					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CCAGCCCATCCAGCTGAGCGA	0.677		NaN											0	0	0	0.00308	0	7	41				
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:62120282T>G	uc002yfd.1	-	6	1354	c.1253A>C	c.(1252-1254)TAC>TCC	p.Y418S	EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667		NaN											0	0	0	0.007835	0	12	43				
MYT1	4661	broad.mit.edu	37	20	62850332	62850332	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:62850332C>T	uc002yii.2	+	12	2279	c.1915C>T	c.(1915-1917)CGC>TGC	p.R639C	MYT1_uc002yih.2_Missense_Mutation_p.R341C|MYT1_uc002yij.2_Missense_Mutation_p.R298C	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	639					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTCTCCACGCGCTGCTGGGA	0.572		NaN											0	0	0	0.001855	0	14	127				
N6AMT1	29104	broad.mit.edu	37	21	30255351	30255351	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:30255351T>C	uc002ymo.1	-	2	203	c.177A>G	c.(175-177)GTA>GTG	p.V59V	N6AMT1_uc002ymp.1_Silent_p.V59V|N6AMT1_uc002ymq.1_RNA	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	59					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0						GGAATGCAGATACTACACCAG	0.353		NaN											0	0	0	0.001855	0	12	86				
ABCG1	9619	broad.mit.edu	37	21	43704774	43704774	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:43704774T>C	uc002zaq.2	+	7	945	c.839T>C	c.(838-840)CTC>CCC	p.L280P	ABCG1_uc002zan.2_Missense_Mutation_p.L282P|ABCG1_uc002zam.2_Missense_Mutation_p.L258P|ABCG1_uc002zao.2_Missense_Mutation_p.L277P|ABCG1_uc002zap.2_Missense_Mutation_p.L280P|ABCG1_uc002zar.2_Missense_Mutation_p.L291P|ABCG1_uc011aev.1_Missense_Mutation_p.L291P|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	280	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	AGCGCCAAACTCTTCGAGCTG	0.627		NaN											0	0	0	0.008871	0	15	157				
PCNT	5116	broad.mit.edu	37	21	47858159	47858159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:47858159C>T	uc002zji.3	+	41	9289	c.9182C>T	c.(9181-9183)ACG>ATG	p.T3061M	PCNT_uc002zjj.2_Missense_Mutation_p.T2864M	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3061	Interaction with NEK2.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GCGCTCAGCACGGTGACCCAG	0.512		NaN											0	0	0	0.00308	0	8	104				
TCN2	6948	broad.mit.edu	37	22	31013431	31013431	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:31013431G>A	uc003aip.1	+	7	1213	c.1055G>A	c.(1054-1056)GGG>GAG	p.G352E	TCN2_uc003aiq.1_Missense_Mutation_p.G348E|TCN2_uc003air.1_Missense_Mutation_p.G325E	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	352					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCTGGCCGGGTCCACCGTG	0.572		NaN											0	0	0	0.007291	0	30	75				
EFCAB6	64800	broad.mit.edu	37	22	43950813	43950813	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:43950813G>T	uc003bdy.1	-	27	3799	c.3584C>A	c.(3583-3585)ACC>AAC	p.T1195N	EFCAB6_uc003bdz.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzi.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzj.1_Missense_Mutation_p.T421N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1195	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGGAGATGGTGTTCGTTTT	0.527		NaN											1	0	4.7796e-09	0.004656	5.1787e-09	26	191				
TSEN2	80746	broad.mit.edu	37	3	12571305	12571305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:12571305C>G	uc003bxc.2	+	10	1568	c.1181C>G	c.(1180-1182)TCT>TGT	p.S394C	TSEN2_uc003bwz.2_Missense_Mutation_p.S335C|TSEN2_uc003bxa.2_Missense_Mutation_p.S368C|TSEN2_uc011auq.1_Missense_Mutation_p.S368C|TSEN2_uc003bxb.2_Missense_Mutation_p.S394C|TSEN2_uc011aur.1_Missense_Mutation_p.S303C	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	394					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						TTTGAAGGCTCTCTCCGCAGG	0.403		NaN											0	0	0	0.00361	0	56	120				
ZNF445	353274	broad.mit.edu	37	3	44490077	44490077	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:44490077C>T	uc003cnf.2	-	8	1434	c.1086G>A	c.(1084-1086)AAG>AAA	p.K362K	ZNF445_uc011azv.1_Silent_p.K350K|ZNF445_uc011azw.1_Silent_p.K362K	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACATTGATCCTTCTGCCTGC	0.418		NaN											0	0	0	0.004007	0	16	80				
WDR82	80335	broad.mit.edu	37	3	52294439	52294439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52294439C>T	uc003ddl.2	-	5	787	c.505G>A	c.(505-507)GAA>AAA	p.E169K	WDR82_uc003ddk.2_Missense_Mutation_p.E94K	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	169	WD 3.				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				0				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTGACCATTTCAGAGTTGACA	0.338		NaN											0	0	0	0.003163	0	15	47				
DNAH1	25981	broad.mit.edu	37	3	52398863	52398863	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52398863C>G	uc011bef.1	+	34	5607	c.5346C>G	c.(5344-5346)CTC>CTG	p.L1782L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1782					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATCTGCCTCCGGGCCATCC	0.637		NaN											0	0	0	0.004007	0	16	51				
GNL3	26354	broad.mit.edu	37	3	52725636	52725636	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52725636G>A	uc003dfd.2	+	9	1033	c.860G>A	c.(859-861)GGG>GAG	p.G287E	GNL3_uc003dfe.2_Missense_Mutation_p.G275E|GNL3_uc003dff.2_Missense_Mutation_p.G275E|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	287	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GTATCCATGGGGCTTACAAGG	0.323		NaN											0	0	0	0.001168	0	5	31				
ACOX2	8309	broad.mit.edu	37	3	58519231	58519231	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:58519231G>T	uc003dkl.2	-	5	699	c.524C>A	c.(523-525)ACC>AAC	p.T175N		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	175					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AAACTCCTGGGTGGCTGCGTC	0.542		NaN									OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.80697e-09	0.010729	3.04741e-09	10	144				
FOXP1	27086	broad.mit.edu	37	3	71050168	71050168	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:71050168G>T	uc003dol.2	-	9	1340	c.1017C>A	c.(1015-1017)GCC>GCA	p.A339A	FOXP1_uc003dom.2_Silent_p.A263A|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.A339A|FOXP1_uc003dop.2_Silent_p.A339A|FOXP1_uc003doq.1_Silent_p.A338A|FOXP1_uc003doi.2_Silent_p.A239A|FOXP1_uc003doj.2_Silent_p.A239A|FOXP1_uc003dok.2_Silent_p.A152A|FOXP1_uc003dor.1_Silent_p.A117A	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	339					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTCTACATTGGGCTGTACTTC	0.353		NaN	T	PAX5	ALL								1	0	0.00741294	0.007413	0.00756564	17	74				
DPPA2	151871	broad.mit.edu	37	3	109027098	109027098	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:109027098A>C	uc003dxo.2	-	6	686	c.439T>G	c.(439-441)TCG>GCG	p.S147A		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	147						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						CGTTTCCTCGAACATCGCTGT	0.433		NaN											0	0	0	0.001368	0	13	116				
SIDT1	54847	broad.mit.edu	37	3	113303564	113303564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:113303564G>C	uc003eak.2	+	8	1506	c.855G>C	c.(853-855)TGG>TGC	p.W285C	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.W285C|SIDT1_uc011big.1_Missense_Mutation_p.W38C	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	285	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						ACCAGACCTGGAATCTACAGC	0.358		NaN											0	0	0	0.001368	0	10	96				
IGSF11	152404	broad.mit.edu	37	3	118623621	118623621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:118623621A>G	uc003ebw.2	-	6	975	c.728T>C	c.(727-729)ATA>ACA	p.I243T	IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.I219T|IGSF11_uc003eby.2_Missense_Mutation_p.I242T|IGSF11_uc003ebz.2_Missense_Mutation_p.I218T|IGSF11_uc010hqs.2_Missense_Mutation_p.I242T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	243	Helical; (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GGCTCCAGCTATTAGTCCAAT	0.358		NaN											0	0	0	0.00361	0	59	248				
KALRN	8997	broad.mit.edu	37	3	124436142	124436142	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:124436142G>A	uc003ehg.2	+	59	8452	c.8325G>A	c.(8323-8325)CTG>CTA	p.L2775L	KALRN_uc003ehk.2_Silent_p.L1078L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2774	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATGATGAACTGATGGAGGAAA	0.413		NaN											0	0	0	0.00361	0	71	82				
UROC1	131669	broad.mit.edu	37	3	126208204	126208204	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:126208204C>T	uc003eiz.1	-	17	1655	c.1623G>A	c.(1621-1623)CTG>CTA	p.L541L	UROC1_uc010hsi.1_Silent_p.L601L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	541					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		GATCTCGGCTCAGGACCACCG	0.582		NaN											0	0	0	0.00361	0	87	148				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.00632	0	10	32				
ACAD11	84129	broad.mit.edu	37	3	132337486	132337486	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:132337486T>C	uc003eov.3	-	11	1786	c.1406A>G	c.(1405-1407)CAA>CGA	p.Q469R	ACAD11_uc011blr.1_Missense_Mutation_p.Q80R|ACAD11_uc003eoy.2_Missense_Mutation_p.Q469R	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	469						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						ACCTGGTGCTTGGCAGTTAAA	0.338		NaN											0	0	0	0.003163	0	15	75				
RAB6B	51560	broad.mit.edu	37	3	133614257	133614257	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:133614257G>T	uc003epy.2	-	1	435	c.54C>A	c.(52-54)TTC>TTA	p.F18L	RAB6B_uc011blu.1_5'UTR	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	18					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						GCTCCCCCAAGAACACCAACT	0.507		NaN											1	0	7.25294e-45	0.00361	8.46435e-45	68	60				
ZIC4	84107	broad.mit.edu	37	3	147113765	147113765	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:147113765T>G	uc003ewd.1	-	3	835	c.562A>C	c.(562-564)AAA>CAA	p.K188Q	ZIC4_uc003ewc.1_Missense_Mutation_p.K118Q|ZIC4_uc011bno.1_Missense_Mutation_p.K238Q	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	188	C2H2-type 2; atypical.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						AGTTTGTATTTGGCTTTGAAG	0.572		NaN											0	0	0	0.010818	0	30	367				
PLCH1	23007	broad.mit.edu	37	3	155208658	155208658	+	Splice_Site	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:155208658C>G	uc011bok.1	-	18	2549	c.2272_splice	c.e18-1	p.I758_splice	PLCH1_uc011boj.1_Splice_Site_p.I758_splice|PLCH1_uc011bol.1_Splice_Site_p.I740_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTCAATGATCTATTAAGTAA	0.313		NaN											0	0	0	0.001168	0	6	48				
ECT2	1894	broad.mit.edu	37	3	172472376	172472376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472376C>G	uc003fii.2	+	2	194	c.56C>G	c.(55-57)TCT>TGT	p.S19C	ECT2_uc010hwv.1_Missense_Mutation_p.S19C|ECT2_uc003fih.2_Missense_Mutation_p.S19C|ECT2_uc003fij.1_Missense_Mutation_p.S19C|ECT2_uc003fik.1_Missense_Mutation_p.S19C|ECT2_uc003fil.1_Missense_Mutation_p.S19C	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	19					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGGCAGACTCTTCCATTTTT	0.323		NaN											0	0	0	0.001368	0	13	17				
ECT2	1894	broad.mit.edu	37	3	172472419	172472419	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472419C>G	uc003fii.2	+	2	237	c.99C>G	c.(97-99)AAC>AAG	p.N33K	ECT2_uc010hwv.1_Missense_Mutation_p.N33K|ECT2_uc003fih.2_Missense_Mutation_p.N33K|ECT2_uc003fij.1_Missense_Mutation_p.N33K|ECT2_uc003fik.1_Missense_Mutation_p.N33K|ECT2_uc003fil.1_Missense_Mutation_p.N33K	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	33					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAAGGAAAACTTACTTATTG	0.323		NaN											0	0	0	0.00499	0	17	15				
ABCC5	10057	broad.mit.edu	37	3	183670874	183670874	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:183670874C>T	uc003fmg.2	-	18	2832	c.2667G>A	c.(2665-2667)GGG>GGA	p.G889G	ABCC5_uc011bqt.1_Silent_p.G417G|ABCC5_uc010hxl.2_Silent_p.G889G	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	889	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTAACCTTACCCCGCTTCCTT	0.463		NaN											0	0	0	0.00361	0	57	109				
THPO	7066	broad.mit.edu	37	3	184090596	184090596	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:184090596C>A	uc003fol.1	-	6	982	c.767G>T	c.(766-768)GGA>GTA	p.G256V	THPO_uc003fom.1_Missense_Mutation_p.G252V|THPO_uc003fon.2_Missense_Mutation_p.W217C|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.W213C|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.W177C	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	256					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACGAGTTCCATTCAAGAG	0.562		NaN											1	0	2.60632e-51	0.00361	3.04816e-51	91	286				
DGKG	1608	broad.mit.edu	37	3	186015941	186015941	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:186015941G>A	uc003fqa.2	-	4	759	c.222C>T	c.(220-222)CAC>CAT	p.H74H	DGKG_uc003fqb.2_Silent_p.H74H|DGKG_uc003fqc.2_Silent_p.H74H|DGKG_uc011brx.1_Silent_p.H74H	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	74					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGGAAGAGGTGAGTGCTCA	0.527		NaN											0	0	0	0.009535	0	33	211				
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:1806099A>G	uc003gdr.3	+	9	1374	c.1118A>G	c.(1117-1119)TAT>TGT	p.Y373C	FGFR3_uc003gdu.2_Missense_Mutation_p.Y375C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.Y373C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	373	Extracellular (Potential).		Y -> C (in KERSEB and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(437)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00361	0	159	67		Valid		
C1QTNF7	114905	broad.mit.edu	37	4	15437374	15437374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15437374G>C	uc011bxb.1	+	2	234	c.7G>C	c.(7-9)GTC>CTC	p.V3L	C1QTNF7_uc003gno.2_Missense_Mutation_p.V10L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V3L	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	3						collagen					0						AAAGATGTTTGTCTTGCTCTA	0.448		NaN											0	0	0	0.009096	0	4	68				
CD38	952	broad.mit.edu	37	4	15780060	15780060	+	Missense_Mutation	SNP	C	C	A	rs78988986	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15780060C>A	uc011bxc.1	+	1	130	c.23C>A	c.(22-24)CCG>CAG	p.P8Q	CD38_uc003goj.1_Missense_Mutation_p.P8Q|CD38_uc003gol.1_Missense_Mutation_p.P8Q	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	8	Cytoplasmic (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						GAGTTCAGCCCGGTGTCCGGG	0.647		NaN											1	0	5.20006e-24	0.011902	5.89196e-24	43	96				
SLC34A2	10568	broad.mit.edu	37	4	25677816	25677816	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:25677816G>A	uc003grr.2	+	13	1599	c.1518G>A	c.(1516-1518)CCG>CCA	p.P506P	SLC34A2_uc003grs.2_Silent_p.P505P|SLC34A2_uc010iev.2_Silent_p.P505P	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	506	Helical; Name=M6; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				ACCCGATCCCGTTCACTCGCC	0.567		NaN											0	0	0	0.012213	0	34	121				
DCAF4L1	285429	broad.mit.edu	37	4	41984468	41984468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:41984468C>G	uc003gwk.2	+	1	756	c.659C>G	c.(658-660)TCA>TGA	p.S220*		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	220										skin(1)	1						CACCAGCAGTCATTTGATACC	0.552		NaN											0	0	0	0.00361	0	70	262				
GABRB1	2560	broad.mit.edu	37	4	47033934	47033934	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:47033934C>T	uc003gxh.2	+	2	458	c.84C>T	c.(82-84)ACC>ACT	p.T28T	GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.T28T|GABRB1_uc010igg.2_RNA	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	28	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCTTAGCACCAATGAACCCA	0.458		NaN											0	0	0	0.00278	0	21	258				
SCD5	79966	broad.mit.edu	37	4	83557961	83557961	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:83557961G>A	uc003hna.2	-	4	905	c.585C>T	c.(583-585)TCC>TCT	p.S195S		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	195	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGCACCACGGAGATCTTAT	0.517		NaN											0	0	0	0.010504	0	21	19				
WDFY3	23001	broad.mit.edu	37	4	85672647	85672647	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672647G>C	uc003hpd.2	-	36	6370	c.5962C>G	c.(5962-5964)CTT>GTT	p.L1988V		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1988						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAACAAAAGATCAATTAGT	0.358		NaN											0	0	0	0.00245	0	14	72				
WDFY3	23001	broad.mit.edu	37	4	85672677	85672677	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672677G>C	uc003hpd.2	-	36	6340	c.5932C>G	c.(5932-5934)CCT>GCT	p.P1978A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1978						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTGGCAGGAGTGAGACAG	0.388		NaN											0	0	0	0.003163	0	14	90				
KLHL8	57563	broad.mit.edu	37	4	88097923	88097923	+	Silent	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:88097923T>G	uc011cdb.1	-	6	1579	c.1194A>C	c.(1192-1194)TCA>TCC	p.S398S	KLHL8_uc003hql.1_Silent_p.S398S|KLHL8_uc003hqm.1_Silent_p.S322S|KLHL8_uc003hqn.1_Silent_p.S215S|KLHL8_uc010ikj.1_Silent_p.S47S	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	398	Kelch 2.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGTGTTCATTGATGCCTTCA	0.338		NaN											0	0	0	0.012319	0	22	65				
AGXT2L1	64850	broad.mit.edu	37	4	109663675	109663675	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:109663675T>G	uc003hzc.2	-	13	1646	c.1465A>C	c.(1465-1467)ACA>CCA	p.T489P	AGXT2L1_uc010imc.2_Missense_Mutation_p.T483P|AGXT2L1_uc011cfm.1_Missense_Mutation_p.T449P|AGXT2L1_uc011cfn.1_Missense_Mutation_p.T416P|AGXT2L1_uc011cfo.1_Missense_Mutation_p.T431P	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	489					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		AGTGAATGTGTATCCGTGCAC	0.438		NaN											0	0	0	0.00499	0	16	127				
SYNPO2	171024	broad.mit.edu	37	4	119951548	119951548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:119951548G>C	uc003icm.3	+	4	1814	c.1618G>C	c.(1618-1620)GAG>CAG	p.E540Q	SYNPO2_uc010ina.2_Missense_Mutation_p.E540Q|SYNPO2_uc010inb.2_Missense_Mutation_p.E540Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E468Q	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	540						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CCAAAGAAAGGAGGAAGAGTC	0.517		NaN											0	0	0	0.00361	0	53	54				
SPATA5	166378	broad.mit.edu	37	4	123855676	123855676	+	Silent	SNP	A	A	G	rs141742510	by1000genomes	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:123855676A>G	uc003iez.3	+	5	1003	c.930A>G	c.(928-930)CTA>CTG	p.L310L	SPATA5_uc003iey.2_Silent_p.L309L	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	310					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						AGAGACTGCTAAAGTTCAGCA	0.348		NaN											0	0	0	0.00245	0	14	64				
UCP1	7350	broad.mit.edu	37	4	141489011	141489011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141489011G>A	uc011chj.1	-	2	323	c.247C>T	c.(247-249)CAG>TAG	p.Q83*	UCP1_uc011chk.1_Nonsense_Mutation_p.Q83*	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	83	Solcar 1.|Helical; Name=2; (Potential).				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					ATTTGCCGCTGAAGCCCCGCA	0.562		NaN											0	0	0	0.00632	0	28	136				
TBC1D9	23158	broad.mit.edu	37	4	141600892	141600892	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141600892C>G	uc010ioj.2	-	4	738	c.466G>C	c.(466-468)GAG>CAG	p.E156Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	156	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTCTCTTCCTCTGGCATCCCA	0.423		NaN											0	0	0	0.007413	0	18	25				
EDNRA	1909	broad.mit.edu	37	4	148406949	148406949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:148406949C>A	uc003iky.2	+	2	808	c.116C>A	c.(115-117)ACT>AAT	p.T39N	EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.T39N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.T39N	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	39	Extracellular (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GATTTCACCACTTTTCGTGGC	0.473		NaN											1	0	1.04594e-18	0.00623	1.17533e-18	41	65				
RAPGEF2	9693	broad.mit.edu	37	4	160271403	160271403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:160271403C>G	uc003iqg.3	+	20	3654	c.3344C>G	c.(3343-3345)TCT>TGT	p.S1115C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1115	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCGCAGCTTTCTTCTCCTCCT	0.333		NaN											0	0	0	0.010729	0	10	29				
SPATA4	132851	broad.mit.edu	37	4	177116553	177116553	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:177116553G>T	uc003iuo.1	-	1	270	c.161C>A	c.(160-162)TCC>TAC	p.S54Y		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	54					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ACGCAGAACGGAACGAGACAA	0.607		NaN											1	0	2.97807e-44	0.00361	3.46805e-44	73	91				
ING2	3622	broad.mit.edu	37	4	184431737	184431737	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:184431737G>A	uc003ivs.1	+	2	604	c.475G>A	c.(475-477)GAA>AAA	p.E159K	ING2_uc011ckk.1_Missense_Mutation_p.E119K	NM_001564	NP_001555	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	159					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			ovary(1)	1		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCGGACCAGTGAAAGCCGTGA	0.458		NaN											0	0	0	0.005524	0	38	48				
CDH18	1016	broad.mit.edu	37	5	19473804	19473804	+	Missense_Mutation	SNP	G	G	A	rs147821413		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:19473804G>A	uc003jgc.2	-	12	2281	c.1904C>T	c.(1903-1905)ACC>ATC	p.T635I	CDH18_uc003jgd.2_Missense_Mutation_p.T635I|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	635	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCGCCTCAGGGTGATAAAAAG	0.423		NaN											0	0	0	0.007291	0	30	301				
AMACR	23600	broad.mit.edu	37	5	33989503	33989503	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:33989503C>T	uc003jig.2	-	5	926	c.844G>A	c.(844-846)GAG>AAG	p.E282K	AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E267K|AMACR_uc003jij.2_Missense_Mutation_p.E282K	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	282					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						TGACACCACTCTGCCTTCGTC	0.458		NaN											0	0	0	0.00361	0	63	83				
C5orf42	65250	broad.mit.edu	37	5	37169135	37169135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:37169135C>T	uc011cpa.1	-	34	7222	c.6991G>A	c.(6991-6993)GAC>AAC	p.D2331N	C5orf42_uc011coy.1_Missense_Mutation_p.D831N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D1406N|C5orf42_uc003jkr.1_Missense_Mutation_p.D364N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2331										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAAGAGTCCTGTTGAGGT	0.388		NaN											0	0	0	0.00361	0	55	96				
PPAP2A	8611	broad.mit.edu	37	5	54737704	54737704	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:54737704G>A	uc003jqa.2	-	4	940	c.524C>T	c.(523-525)TCC>TTC	p.S175F	PPAP2A_uc003jpz.2_Missense_Mutation_p.S176F|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	175	Helical; (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCAGTACATGGAAAACGAAGA	0.403		NaN											0	0	0	0.001984	0	6	93				
CARTPT	9607	broad.mit.edu	37	5	71015207	71015207	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:71015207G>A	uc003kbv.1	+	1	214	c.87G>A	c.(85-87)GAG>GAA	p.E29E		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	29					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGCCCAGGAGGACGCCGAGC	0.662		NaN											0	0	0	0.001984	0	7	127				
BTF3	689	broad.mit.edu	37	5	72798768	72798768	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:72798768G>A	uc003kcr.1	+	4	586	c.343G>A	c.(343-345)GTG>ATG	p.V115M	BTF3_uc003kcq.1_Missense_Mutation_p.V71M|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	NM_001037637	NP_001032726	P20290	BTF3_HUMAN	basic transcription factor 3 isoform A	115	NAC-A/B.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding				0		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CCAAGGAACAGTGATCCACTT	0.363		NaN											0	0	0	0.00361	0	63	98				
HOMER1	9456	broad.mit.edu	37	5	78672000	78672000	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:78672000T>C	uc003kfy.2	-	9	2000	c.897A>G	c.(895-897)AAA>AAG	p.K299K	HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Silent_p.K169K|HOMER1_uc010jad.2_Silent_p.K125K	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	299	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CCTCCAGGTCTTTGTTCCGAA	0.358		NaN											0	0	0	0.013114	0	44	58				
RASGRF2	5924	broad.mit.edu	37	5	80409473	80409473	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:80409473G>T	uc003kha.1	+	15	2204	c.2204G>T	c.(2203-2205)AGA>ATA	p.R735I	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	735	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTGTGTCCAGAACATCTTCC	0.522		NaN											1	0	1.47197e-15	0.007835	1.6439e-15	41	67				
SRFBP1	153443	broad.mit.edu	37	5	121330336	121330336	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:121330336G>A	uc003kst.1	+	4	313	c.241G>A	c.(241-243)GAT>AAT	p.D81N		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCTTGGTGATGATATCAACTT	0.254		NaN											0	0	0	0.00245	0	14	12				
FBN2	2201	broad.mit.edu	37	5	127800489	127800489	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:127800489C>G	uc003kuu.2	-	6	1193	c.754G>C	c.(754-756)GAG>CAG	p.E252Q	FBN2_uc003kuv.2_Missense_Mutation_p.E219Q|FBN2_uc003kuw.3_Missense_Mutation_p.E252Q|FBN2_uc003kux.1_Missense_Mutation_p.E252Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	252	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGACACATCTCACAGGGATGG	0.607		NaN											0	0	0	0.012213	0	34	121				
DDX46	9879	broad.mit.edu	37	5	134102654	134102654	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:134102654C>G	uc003kzw.2	+	3	422	c.254C>G	c.(253-255)TCT>TGT	p.S85C	DDX46_uc003kzv.1_Intron	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	85	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAAGAAGATCTCGAAGTAGA	0.473		NaN											0	0	0	0.006214	0	10	64				
PCDHA3	56145	broad.mit.edu	37	5	140180995	140180995	+	Missense_Mutation	SNP	C	C	A	rs138112183		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140180995C>A	uc003lhf.2	+	1	213	c.213C>A	c.(211-213)CAC>CAA	p.H71Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H71Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	71	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAAGACACGGGGACCTTC	0.627		NaN											1	0	7.92265e-33	0.00361	9.1869e-33	58	346				
PCDHA12	56137	broad.mit.edu	37	5	140256931	140256931	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140256931G>T	uc003lic.2	+	1	2001	c.1874G>T	c.(1873-1875)GGG>GTG	p.G625V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G625V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACGTGGGGCTGTACACT	0.677		NaN											1	0	6.4308e-24	0.00361	7.27134e-24	53	81				
PCDHB11	56125	broad.mit.edu	37	5	140579906	140579906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140579906G>C	uc003liy.2	+	1	559	c.559G>C	c.(559-561)GAC>CAC	p.D187H	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	187	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCATTCCAGACAATAGGAA	0.448		NaN											0	0	0	0.001855	0	13	96				
C5orf54	63920	broad.mit.edu	37	5	159822193	159822193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:159822193C>T	uc003lye.1	-	2	769	c.305G>A	c.(304-306)TGT>TAT	p.C102Y	C5orf54_uc003lyf.1_Missense_Mutation_p.C102Y	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	102										pancreas(1)	1						ctccttggcacataaatacgc	0		NaN											0	0	0	0.00361	0	55	52				
TXNDC5	81567	broad.mit.edu	37	6	7904949	7904949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:7904949G>A	uc003mxv.2	-	2	303	c.271C>T	c.(271-273)CAC>TAC	p.H91Y	TXNDC5_uc003mxw.2_Missense_Mutation_p.H48Y|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	91	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					CGCTGGCAGTGTCCACACCTG	0.547		NaN											0	0	0	0.00361	0	55	46				
DCDC2	51473	broad.mit.edu	37	6	24205258	24205258	+	Missense_Mutation	SNP	T	T	A	rs150003705		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:24205258T>A	uc003ndx.2	-	8	1297	c.995A>T	c.(994-996)GAT>GTT	p.D332V	DCDC2_uc003ndy.2_Missense_Mutation_p.D332V|DCDC2_uc003ndw.2_Missense_Mutation_p.D83V	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	332					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				AACCTGAGTATCTTCATCTTC	0.403		NaN											0	0	0	0.00632	0	25	387				
SLC17A3	10786	broad.mit.edu	37	6	25845738	25845738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25845738C>T	uc003nfi.3	-	11	1245	c.1135G>A	c.(1135-1137)GAG>AAG	p.E379K	SLC17A3_uc003nfk.3_Missense_Mutation_p.E457K	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	379					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						CACCCAAACTCAGGGTCCTGG	0.413		NaN											0	0	0	0.00361	0	73	44				
SLC17A2	10246	broad.mit.edu	37	6	25921506	25921506	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25921506A>T	uc011dkb.1	-	3	458	c.375T>A	c.(373-375)GGT>GGA	p.G125G	SLC17A2_uc011dkc.1_Silent_p.G125G|SLC17A2_uc003nfl.2_Silent_p.G125G			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	125					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						AGATCAGCAAACCAGCACCAA	0.468		NaN											0	0	0	0.008871	0	19	129				
ZNF184	7738	broad.mit.edu	37	6	27425078	27425078	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27425078T>A	uc003njj.2	-	3	997	c.186A>T	c.(184-186)ACA>ACT	p.T62T	ZNF184_uc010jqv.2_Silent_p.T62T|ZNF184_uc003nji.2_Silent_p.T62T	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGACCAGGTGTGTATAATTTT	0.448		NaN											0	0	0	0.001368	0	12	134				
OR2B2	81697	broad.mit.edu	37	6	27879892	27879892	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27879892A>T	uc011dkw.1	-	1	206	c.206T>A	c.(205-207)CTG>CAG	p.L69Q		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAAAGGTCCAGGAGTGAGAG	0.413		NaN											0	0	0	0.005524	0	37	80				
ZNF193	7746	broad.mit.edu	37	6	28200426	28200426	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:28200426G>C	uc003nkq.1	+	4	770	c.655G>C	c.(655-657)GAG>CAG	p.E219Q	ZNF193_uc003nkr.1_Missense_Mutation_p.E219Q|ZNF193_uc010jqz.1_Missense_Mutation_p.E270Q	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	219					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATGTTTAATGAGCAGACCTG	0.458		NaN											0	0	0	0.001368	0	13	85				
PPP1R11	6992	broad.mit.edu	37	6	30035194	30035194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30035194G>T	uc003npb.2	+	1	263	c.7G>T	c.(7-9)GAG>TAG	p.E3*	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	3						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3						AGCCATGGCCGAGGCAGGGGC	0.607		NaN											1	0	1.45844e-13	0.002836	1.62214e-13	31	171				
KIAA1949	170954	broad.mit.edu	37	6	30652748	30652748	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30652748C>G	uc003nra.2	-	2	1279	c.1048G>C	c.(1048-1050)GAG>CAG	p.E350Q	KIAA1949_uc003nrb.3_Missense_Mutation_p.E350Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	350						cytoplasm|cytoskeleton	actin binding				0						GTTTGAGCCTCTATGTCCCTG	0.577		NaN											0	0	0	0.003163	0	16	295				
CCHCR1	54535	broad.mit.edu	37	6	31110756	31110756	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31110756G>C	uc003nsr.3	-	17	2331	c.2208C>G	c.(2206-2208)ACC>ACG	p.T736T	CCHCR1_uc011dne.1_Silent_p.T722T|CCHCR1_uc003nsq.3_Silent_p.T789T|CCHCR1_uc003nsp.3_Silent_p.T825T	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	736					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						TGGACTCCCTGGTGGGCACTG	0.532		NaN											0	0	0	0.00361	0	61	779				
C6orf27	80737	broad.mit.edu	37	6	31733741	31733741	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31733741C>G	uc011dog.1	-	16	2656	c.2418G>C	c.(2416-2418)GTG>GTC	p.V806V		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	806						extracellular region				ovary(3)	3						CCCCTGCAGTCACAGTCACCA	0.637		NaN											0	0	0	0.00278	0	24	440				
DAXX	1616	broad.mit.edu	37	6	33289243	33289243	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:33289243C>T	uc003oec.2	-	3	513	c.309G>A	c.(307-309)GCG>GCA	p.A103A	DAXX_uc011drd.1_Silent_p.A28A|DAXX_uc011dre.1_Silent_p.A115A|DAXX_uc003oed.2_Silent_p.A103A|DAXX_uc010juw.2_Silent_p.A28A	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	103	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.A103fs*40(1)		pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TGCAGAACTCCGCCGAGGCCA	0.562		NaN	Mis|F|N		Pancreatic neuroendocrine tumors								0	0	0	0.008291	0	10	271				
LHFPL5	222662	broad.mit.edu	37	6	35773642	35773642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:35773642C>G	uc003olg.1	+	1	572	c.195C>G	c.(193-195)TTC>TTG	p.F65L		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	65	Helical; (Potential).					integral to membrane				skin(1)	1						TCGGCCTTTTCTCCTACTGCG	0.587		NaN											0	0	0	0.00361	0	311	165				
KIF6	221458	broad.mit.edu	37	6	39545887	39545887	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:39545887C>A	uc003oot.2	-	10	1221	c.1126G>T	c.(1126-1128)GCC>TCC	p.A376S	KIF6_uc010jxa.1_Missense_Mutation_p.A167S|KIF6_uc011dua.1_Missense_Mutation_p.A376S|KIF6_uc010jxb.1_Missense_Mutation_p.A376S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	376	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GTGACCATGGCCAGTTCATCC	0.428		NaN											1	0	2.4624e-09	0.008871	2.67865e-09	19	201				
TREM2	54209	broad.mit.edu	37	6	41126740	41126740	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41126740A>T	uc003opy.2	-	4	649	c.547T>A	c.(547-549)TTT>ATT	p.F183I	TREM2_uc003opz.2_Missense_Mutation_p.L226H|TREM2_uc010jxl.1_Intron	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	183	Helical; (Potential).				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGATGAGAAAGATGCAGGCC	0.567		NaN											0	0	0	0.008291	0	11	104				
PRICKLE4	29964	broad.mit.edu	37	6	41754506	41754506	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41754506C>T	uc011duf.1	+	8	1042	c.794C>T	c.(793-795)ACT>ATT	p.T265I	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	225						nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAGGGGAGACTGGACTCGAC	0.612		NaN											0	0	0	0.001855	0	14	193				
HTR1B	3351	broad.mit.edu	37	6	78172393	78172393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:78172393G>A	uc003pil.1	-	1	728	c.728C>T	c.(727-729)ACG>ATG	p.T243M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	243	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTGTTGGGCGTCTGTTTCAA	0.612		NaN											0	0	0	0.00361	0	69	37				
DSE	29940	broad.mit.edu	37	6	116757645	116757645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:116757645C>T	uc003pws.2	+	6	2208	c.2014C>T	c.(2014-2016)CAG>TAG	p.Q672*	DSE_uc011ebg.1_Nonsense_Mutation_p.Q691*|DSE_uc003pwt.2_Nonsense_Mutation_p.Q672*|DSE_uc003pwu.2_Nonsense_Mutation_p.Q339*	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	672					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATAGATGTTCAGAGCTTCAC	0.517		NaN											0	0	0	0.00361	0	55	127				
VNN1	8876	broad.mit.edu	37	6	133014264	133014264	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:133014264A>G	uc003qdo.2	-	4	745	c.725T>C	c.(724-726)TTG>TCG	p.L242S		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	242	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CAAATGTGGCAAAACATTCAT	0.428		NaN											0	0	0	0.00361	0	50	34				
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:144508445C>G	uc003qks.3	+	2	873	c.681C>G	c.(679-681)CTC>CTG	p.L227L		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.006999	0	41	25				
IYD	389434	broad.mit.edu	37	6	150713540	150713540	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:150713540G>C	uc003qnu.1	+	3	570	c.430G>C	c.(430-432)GAC>CAC	p.D144H	IYD_uc003qnv.1_Missense_Mutation_p.D144H|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.D144H|IYD_uc010kik.1_Missense_Mutation_p.D62H	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	144	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GAAGGACCCAGACGTGAAGCA	0.493		NaN											0	0	0	0.012319	0	23	196				
TIAM2	26230	broad.mit.edu	37	6	155451184	155451184	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:155451184G>T	uc003qqb.2	+	6	2100	c.827G>T	c.(826-828)AGT>ATT	p.S276I	TIAM2_uc003qqe.2_Missense_Mutation_p.S276I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	276					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTGACCCCAGTCTCCATGCC	0.602		NaN											1	0	9.4991e-31	0.00361	1.09451e-30	68	31				
CARD11	84433	broad.mit.edu	37	7	2978460	2978460	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:2978460C>T	uc003smv.2	-	7	1274	c.870G>A	c.(868-870)GGG>GGA	p.G290G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	290	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGCGCTTCCCGGCCTGGG	0.632		NaN	Mis		DLBCL								0	0	0	0.00308	0	7	65				
GLI3	2737	broad.mit.edu	37	7	42005113	42005113	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005113C>A	uc011kbh.1	-	15	3649	c.3558G>T	c.(3556-3558)CCG>CCT	p.P1186P	GLI3_uc011kbg.1_Silent_p.P1127P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGCGAGTCTGCGGCACAGCGG	0.652		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				1	0	3.61922e-38	0.00361	4.20571e-38	92	179				
GLI3	2737	broad.mit.edu	37	7	42005561	42005561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005561G>A	uc011kbh.1	-	15	3201	c.3110C>T	c.(3109-3111)ACG>ATG	p.T1037M	GLI3_uc011kbg.1_Missense_Mutation_p.T978M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1037					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTCCGCGGACGTGGCCATCGC	0.697		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.007413	0	17	60				
OGDH	4967	broad.mit.edu	37	7	44736090	44736090	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44736090G>T	uc003tln.2	+	14	1943	c.1834G>T	c.(1834-1836)GAT>TAT	p.D612Y	OGDH_uc011kbx.1_Missense_Mutation_p.D608Y|OGDH_uc011kby.1_Missense_Mutation_p.D462Y|OGDH_uc003tlp.2_Missense_Mutation_p.D623Y|OGDH_uc011kbz.1_Missense_Mutation_p.D407Y|OGDH_uc003tlo.1_Missense_Mutation_p.D445Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	612					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCTGACGGAGGATATTCTGAC	0.527		NaN											1	0	1.96292e-10	0.010504	2.1525e-10	21	102				
OGDH	4967	broad.mit.edu	37	7	44737336	44737336	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44737336G>C	uc003tln.2	+	17	2422	c.2313G>C	c.(2311-2313)CGG>CGC	p.R771R	OGDH_uc011kbx.1_Silent_p.R767R|OGDH_uc011kby.1_Silent_p.R621R|OGDH_uc003tlp.2_Silent_p.R782R|OGDH_uc011kbz.1_Silent_p.R566R	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	771					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	AGTGGGTGCGGCAGAATGGCA	0.602		NaN											0	0	0	0.004482	0	7	148				
CACNA2D1	781	broad.mit.edu	37	7	81746455	81746455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:81746455C>T	uc003uhr.1	-	6	687	c.431G>A	c.(430-432)AGG>AAG	p.R144K		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	144	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGGTTTTATCCTCTGGCTGCC	0.358		NaN											0	0	0	0.006214	0	10	46				
PCLO	27445	broad.mit.edu	37	7	82595105	82595105	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:82595105T>A	uc003uhx.2	-	4	4288	c.3999A>T	c.(3997-3999)GAA>GAT	p.E1333D	PCLO_uc003uhv.2_Missense_Mutation_p.E1333D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTCCCAGGTTCCACCTGAT	0.373		NaN											0	0	0	0.004289	0	32	81				
GRM3	2913	broad.mit.edu	37	7	86416022	86416022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:86416022C>T	uc003uid.2	+	3	2013	c.914C>T	c.(913-915)GCG>GTG	p.A305V	GRM3_uc010lef.2_Missense_Mutation_p.A303V|GRM3_uc010leg.2_Missense_Mutation_p.A177V|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	305	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCTGGGGCGCGCAGGAGAGC	0.677		NaN											0	0	0	0.003163	0	15	83				
GAL3ST4	79690	broad.mit.edu	37	7	99758066	99758066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:99758066C>T	uc003utt.2	-	3	1963	c.946G>A	c.(946-948)GAT>AAT	p.D316N	C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D316N|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D254N	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	316	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGGGCATCTGCCAGCAGA	0.557		NaN											0	0	0	0.00361	0	47	147				
TRIP6	7205	broad.mit.edu	37	7	100469281	100469281	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100469281C>T	uc003uww.2	+	7	1286	c.1116C>T	c.(1114-1116)CTC>CTT	p.L372L		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	372	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCGCGGCCTCGACGGCATCC	0.622		NaN											0	0	0	0.00623	0	35	49				
MUC17	140453	broad.mit.edu	37	7	100682960	100682960	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100682960A>T	uc003uxp.1	+	3	8316	c.8263A>T	c.(8263-8265)AGT>TGT	p.S2755C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2755	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACAAGTATACTTGT	0.493		NaN											0	0	0	0.012319	0	22	650				
MUC17	140453	broad.mit.edu	37	7	100693838	100693838	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100693838G>A	uc003uxp.1	+	7	12849	c.12796G>A	c.(12796-12798)GAC>AAC	p.D4266N	MUC17_uc010lho.1_Intron	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4266	Extracellular (Potential).|SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GACAGTATTGGACAATGCCAC	0.463		NaN											0	0	0	0.004656	0	27	80				
RELN	5649	broad.mit.edu	37	7	103197585	103197585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:103197585G>C	uc003vca.2	-	38	5796	c.5636C>G	c.(5635-5637)TCT>TGT	p.S1879C	RELN_uc010liz.2_Missense_Mutation_p.S1879C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1879					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACAGAATAGAGTGAGATCT	0.378		NaN											0	0	0	0.001168	0	6	53				
ZC3HAV1	56829	broad.mit.edu	37	7	138764694	138764694	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:138764694T>C	uc003vun.2	-	4	1381	c.993A>G	c.(991-993)TTA>TTG	p.L331L	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L331L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	331					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TGCCGTTCTCTAAAAACCTCT	0.552		NaN											0	0	0	0.00361	0	63	70				
TAS2R39	259285	broad.mit.edu	37	7	142880649	142880649	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:142880649C>A	uc011ksw.1	+	1	138	c.138C>A	c.(136-138)CTC>CTA	p.L46L		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	46	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					CTGAATACCTCATTGGTATCA	0.413		NaN											1	0	0.00307968	0.00308	0.00315493	7	53				
MFHAS1	9258	broad.mit.edu	37	8	8748771	8748771	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:8748771C>G	uc003wsj.1	-	1	2361	c.1798G>C	c.(1798-1800)GAC>CAC	p.D600H		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	600	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGGTTCTTGTCCGAAACGCCA	0.642		NaN											0	0	0	0.001984	0	7	104				
DLC1	10395	broad.mit.edu	37	8	12957634	12957634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12957634T>A	uc003wwm.2	-	9	2656	c.2212A>T	c.(2212-2214)ACG>TCG	p.T738S	DLC1_uc003wwk.1_Missense_Mutation_p.T301S|DLC1_uc003wwl.1_Missense_Mutation_p.T335S|DLC1_uc011kxx.1_Missense_Mutation_p.T227S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	738					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGGTCTGCGTGGAGTTGGAA	0.617		NaN											0	0	0	0.003954	0	25	81				
DLC1	10395	broad.mit.edu	37	8	12958064	12958064	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12958064G>A	uc003wwm.2	-	9	2226	c.1782C>T	c.(1780-1782)GTC>GTT	p.V594V	DLC1_uc003wwk.1_Silent_p.V157V|DLC1_uc003wwl.1_Silent_p.V191V|DLC1_uc011kxx.1_Silent_p.V83V	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	594					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGAGGCTGCGGACGGAAGACA	0.697		NaN											0	0	0	0.00499	0	17	118				
MTUS1	57509	broad.mit.edu	37	8	17611869	17611869	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:17611869G>C	uc003wxv.2	-	2	1922	c.1448C>G	c.(1447-1449)ACA>AGA	p.T483R	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.T483R|MTUS1_uc010lsz.2_Missense_Mutation_p.T483R	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	483						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CGTTTTGATTGTTGATTTTCC	0.378		NaN											0	0	0	0.00361	0	75	143				
UNC5D	137970	broad.mit.edu	37	8	35579728	35579728	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:35579728G>T	uc003xjr.1	+	9	1446	c.1118G>T	c.(1117-1119)AGC>ATC	p.S373I	UNC5D_uc003xjs.1_Missense_Mutation_p.S368I|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G131V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	373	Extracellular (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTCTTTCAGGCATTGAGAAT	0.493		NaN											1	0	1.06961e-07	0.00308	1.12754e-07	8	182				
RAB11FIP1	80223	broad.mit.edu	37	8	37730513	37730513	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:37730513C>T	uc003xkm.1	-	4	1851	c.1807G>A	c.(1807-1809)GCA>ACA	p.A603T	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	603	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATGGGAGCTGCTATGGGAGAT	0.547		NaN											0	0	0	0.002836	0	34	111				
RGS22	26166	broad.mit.edu	37	8	101075735	101075735	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:101075735A>G	uc003yjb.1	-	8	1456	c.1261T>C	c.(1261-1263)TTT>CTT	p.F421L	RGS22_uc003yja.1_Missense_Mutation_p.F240L|RGS22_uc003yjc.1_Missense_Mutation_p.F409L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	421					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTTTATAAATTTCTTAAAT	0.388		NaN											0	0	0	0.006122	0	15	68				
PKHD1L1	93035	broad.mit.edu	37	8	110489537	110489537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:110489537C>T	uc003yne.2	+	53	9105	c.9001C>T	c.(9001-9003)CAA>TAA	p.Q3001*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3001	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTAATTTCCAAGCTTACTG	0.418		NaN								HNSCC(38;0.096)			0	0	0	0.012213	0	34	45				
GSDMD	79792	broad.mit.edu	37	8	144643221	144643221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:144643221C>T	uc010mfe.2	+	8	1332	c.629C>T	c.(628-630)TCA>TTA	p.S210L	uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.S258L|GSDMD_uc003yyi.2_3'UTR|GSDMD_uc003yyg.2_Missense_Mutation_p.S210L|GSDMD_uc003yyh.2_Missense_Mutation_p.S141L	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	210											0						ACCATCCCCTCAGGCAGCACC	0.667		NaN											0	0	0	0.001168	0	6	50				
TTC39B	158219	broad.mit.edu	37	9	15187022	15187022	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:15187022C>T	uc003zlr.1	-	15	1330	c.1209G>A	c.(1207-1209)GTG>GTA	p.V403V	TTC39B_uc003zlq.1_Silent_p.V372V|TTC39B_uc011lmp.1_Silent_p.V304V|TTC39B_uc010mie.1_Silent_p.V401V|TTC39B_uc011lmq.1_Silent_p.V390V|TTC39B_uc011lmr.1_Silent_p.V334V|TTC39B_uc010mif.1_Silent_p.V403V|TTC39B_uc003zlp.1_5'UTR	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	403							binding			ovary(1)	1						CTTTCAAGAACACATAAGTTG	0.383		NaN											0	0	0	0.007835	0	39	39				
DMRTA1	63951	broad.mit.edu	37	9	22451128	22451128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:22451128C>T	uc003zpp.1	+	2	958	c.733C>T	c.(733-735)CAG>TAG	p.Q245*		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	245					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|skin(1)	2		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CAAATCCCATCAGCTTTACCT	0.398		NaN											0	0	0	0.003163	0	15	17				
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:35102793G>C	uc003zwi.2	-	2	136	c.73C>G	c.(73-75)CCG>GCG	p.P25A	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.P25A|STOML2_uc003zwk.2_5'UTR	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647		NaN											0	0	0	0.003271	0	34	77				
EPB41L4B	54566	broad.mit.edu	37	9	111970252	111970252	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:111970252A>G	uc004bdz.1	-	18	2125	c.1830T>C	c.(1828-1830)TGT>TGC	p.C610C		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	610						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TCAGAATGTTACACTTCACAT	0.428		NaN											0	0	0	0.008871	0	19	119				
HSDL2	84263	broad.mit.edu	37	9	115216316	115216316	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:115216316G>C	uc004bga.1	+	9	982	c.889G>C	c.(889-891)GAG>CAG	p.E297Q	HSDL2_uc011lwv.1_Missense_Mutation_p.E176Q|HSDL2_uc004bgb.1_Missense_Mutation_p.E131Q|HSDL2_uc004bgc.1_Missense_Mutation_p.E224Q|HSDL2_uc011lww.1_Missense_Mutation_p.E92Q	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						peroxisome	oxidoreductase activity|sterol binding				0						ATTCAAAGAAGAGAAACTGCA	0.403		NaN											0	0	0	0.006214	0	9	49				
CRB2	286204	broad.mit.edu	37	9	126128573	126128573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:126128573G>A	uc004bnx.1	+	4	774	c.682G>A	c.(682-684)GCA>ACA	p.A228T	CRB2_uc004bnw.1_Missense_Mutation_p.A228T	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	228	Extracellular (Potential).|EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCTGGAGTGCGCATCGGCGCC	0.741		NaN											0	0	0	0.001168	0	5	3				
SPTAN1	6709	broad.mit.edu	37	9	131356499	131356499	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356499G>A	uc004bvl.3	+	24	3374	c.3261G>A	c.(3259-3261)TTG>TTA	p.L1087L	SPTAN1_uc011mbg.1_Silent_p.L1067L|SPTAN1_uc011mbh.1_Silent_p.L1099L|SPTAN1_uc004bvm.3_Silent_p.L1087L|SPTAN1_uc004bvn.3_Silent_p.L1067L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1087	Spectrin 11.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AAGGCATGTTGGAGAAGAGTT	0.468		NaN											0	0	0	0.010771	0	43	36				
SPTAN1	6709	broad.mit.edu	37	9	131356542	131356542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356542G>T	uc004bvl.3	+	24	3417	c.3304G>T	c.(3304-3306)GAA>TAA	p.E1102*	SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E1082*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E1114*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1102*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1082*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1102	Spectrin 12.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAAGCGAATGAACTACAGCA	0.468		NaN											1	0	1.19451e-25	0.00361	1.3648e-25	48	38				
SPTAN1	6709	broad.mit.edu	37	9	131362362	131362362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131362362G>A	uc004bvl.3	+	27	3660	c.3547G>A	c.(3547-3549)GAA>AAA	p.E1183K	SPTAN1_uc011mbh.1_Missense_Mutation_p.E1195K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1183K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1163K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAATAGGATGAAACTGATTC	0.438		NaN											0	0	0	0.003755	0	34	20				
SPTAN1	6709	broad.mit.edu	37	9	131367332	131367332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131367332G>C	uc004bvl.3	+	30	3852	c.3739G>C	c.(3739-3741)GAA>CAA	p.E1247Q	SPTAN1_uc011mbh.1_Missense_Mutation_p.E1259Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1247Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1227Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1247	Spectrin 14.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAAACCAAAGAATGGATTGA	0.413		NaN											0	0	0	0.005524	0	37	25				
SPTAN1	6709	broad.mit.edu	37	9	131378100	131378100	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131378100G>A	uc004bvl.3	+	40	5436	c.5323G>A	c.(5323-5325)GAC>AAC	p.D1775N	SPTAN1_uc004bvm.3_Missense_Mutation_p.D1780N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1755N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1775	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGACATGGATGACGAGGAGTC	0.567		NaN											0	0	0	0.010771	0	44	25				
SPTAN1	6709	broad.mit.edu	37	9	131394948	131394948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131394948G>A	uc004bvl.3	+	54	7209	c.7096G>A	c.(7096-7098)GAA>AAA	p.E2366K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2371K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2346K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E133K|SPTAN1_uc004bvp.3_Missense_Mutation_p.E109K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2366	EF-hand 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGAGGAAGGGGAACCTGACCC	0.567		NaN											0	0	0	0.00361	0	58	35				
WDR34	89891	broad.mit.edu	37	9	131397156	131397156	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131397156G>A	uc004bvq.1	-	7	1150	c.1026C>T	c.(1024-1026)TTC>TTT	p.F342F	WDR34_uc004bvs.1_Silent_p.F333F|WDR34_uc004bvr.1_Silent_p.F314F	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	342						cytoplasm				central_nervous_system(2)|skin(1)	3						CAAAGCTGGAGAAGGCCACTG	0.647		NaN									OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	26	14				
KCNT1	57582	broad.mit.edu	37	9	138650354	138650354	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:138650354G>A	uc011mdq.1	+	10	928	c.854G>A	c.(853-855)GGG>GAG	p.G285E	KCNT1_uc011mdr.1_Missense_Mutation_p.G112E|KCNT1_uc010nbf.2_Missense_Mutation_p.G237E|KCNT1_uc004cgo.1_Missense_Mutation_p.G34E	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	285						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTTTTCACGGGGTGAGTGCCG	0.612		NaN											0	0	0	0.004289	0	33	31				
SEC16A	9919	broad.mit.edu	37	9	139348776	139348776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:139348776G>A	uc004chx.2	-	21	6170	c.5861C>T	c.(5860-5862)CCG>CTG	p.P1954L	SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'UTR|SEC16A_uc004chu.2_Missense_Mutation_p.P139L|SEC16A_uc004chv.3_Missense_Mutation_p.P1344L|SEC16A_uc004chw.2_Missense_Mutation_p.P1954L|SEC16A_uc010nbn.2_Missense_Mutation_p.P1954L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1776	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCGTCTGCGGAGCTGCATG	0.602		NaN											0	0	0	0.004672	0	2	5				
XG	7499	broad.mit.edu	37	X	2670373	2670373	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:2670373C>A	uc011mhg.1	+	1	281	c.58C>A	c.(58-60)CGA>AGA	p.R20R	XG_uc010ndb.2_RNA|XG_uc004cqp.2_Silent_p.R20R	NM_175569	NP_780778	P55808	XG_HUMAN	XG glycoprotein isoform 1 precursor	20						integral to membrane|plasma membrane				ovary(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGCACGCCCGAGGTAAGAG	0.483		NaN											1	0	3.17917e-66	0.00361	3.73416e-66	114	190				
RPGR	6103	broad.mit.edu	37	X	38156597	38156597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:38156597C>T	uc004ded.1	-	11	1522	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	RPGR_uc004deb.2_Missense_Mutation_p.E452K|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.E137K	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	452					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						AGGTTTCTCTCAGAACATCGT	0.453		NaN											0	0	0	0.010504	0	21	36				
SLC35A2	7355	broad.mit.edu	37	X	48762196	48762196	+	Silent	SNP	G	G	A	rs146079657	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48762196G>A	uc004dlo.1	-	4	994	c.990C>T	c.(988-990)CTC>CTT	p.L330L	SLC35A2_uc011mml.1_Silent_p.L343L|SLC35A2_uc004dlp.1_Silent_p.L330L|SLC35A2_uc011mmm.1_Silent_p.L358L|SLC35A2_uc011mmn.1_Silent_p.L269L|SLC35A2_uc004dlr.1_Missense_Mutation_p.S184L|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	330	Helical; (Potential).				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						CACCAATGACGAGTCCAGCGC	0.607		NaN											0	0	0	0.005443	0	24	5				
KCND1	3750	broad.mit.edu	37	X	48826378	48826378	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48826378C>A	uc004dlx.1	-	1	1874	c.301G>T	c.(301-303)GGG>TGG	p.G101W	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	101	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						TGCAGCCGCCCCGTTCGGTAG	0.582		NaN											1	0	0.000274275	0.004482	0.000282038	8	32				
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48921477G>A	uc010nik.2	+	5	776	c.269G>A	c.(268-270)CGC>CAC	p.R90H	CCDC120_uc011mmq.1_Missense_Mutation_p.R78H|CCDC120_uc004dmf.2_Missense_Mutation_p.R90H|CCDC120_uc010nil.2_Missense_Mutation_p.R90H|CCDC120_uc011mmr.1_Missense_Mutation_p.R90H|CCDC120_uc011mms.1_Missense_Mutation_p.R78H	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	90							protein binding			pancreas(1)	1						CCCACAGCCCGCGCCTACCCT	0.682		NaN											0	0	0	0.009096	0	4	22				
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:65427138G>A	uc011moz.1	+	14	2462	c.2402G>A	c.(2401-2403)CGG>CAG	p.R801Q	HEPH_uc004dwn.2_Missense_Mutation_p.R801Q|HEPH_uc004dwo.2_Missense_Mutation_p.R531Q|HEPH_uc010nkr.2_Missense_Mutation_p.R609Q|HEPH_uc011mpa.1_Missense_Mutation_p.R801Q|HEPH_uc010nks.2_Missense_Mutation_p.R90Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	798	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						AGGATCCCTCGGCCAAGGACT	0.478		NaN											0	0	0	0.001855	0	14	3				
PDZD4	57595	broad.mit.edu	37	X	153072223	153072223	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:153072223C>G	uc004fiz.1	-	4	710	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	PDZD4_uc004fiy.1_Missense_Mutation_p.E79Q|PDZD4_uc004fix.2_Missense_Mutation_p.E58Q|PDZD4_uc004fja.1_Missense_Mutation_p.E160Q|PDZD4_uc011mze.1_Missense_Mutation_p.E45Q	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	154	PDZ.					cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTCCTCCTCGTCGTCC	0.627		NaN											0	0	0	0.00361	0	67	16				
CCDC27	148870	broad.mit.edu	37	1	3672130	3672130	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:3672130C>T	uc001akv.2	+	3	633	c.552C>T	c.(550-552)GAC>GAT	p.D184D		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	184										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAACGTGGACGGTGAGGGAG	0.647		NaN											0	0	0	0.012319	0	21	228				
CAMTA1	23261	broad.mit.edu	37	1	7798119	7798119	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:7798119C>G	uc001aoi.2	+	16	3966	c.3759C>G	c.(3757-3759)TTC>TTG	p.F1253L	CAMTA1_uc010nzv.1_Missense_Mutation_p.F340L|CAMTA1_uc001aok.3_Missense_Mutation_p.F296L|CAMTA1_uc001aoj.2_Missense_Mutation_p.F209L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTACTTCCAGACAAGGC	0.488		NaN											0	0	0	0.027356	0	26	103				
PTCHD2	57540	broad.mit.edu	37	1	11596720	11596720	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:11596720C>T	uc001ash.3	+	21	4294	c.4156C>T	c.(4156-4158)CTG>TTG	p.L1386L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1386	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TAAGATTCCCCTGCCCGCAGG	0.672		NaN											0	0	0	0.004672	0	3	10				
PADI4	23569	broad.mit.edu	37	1	17690129	17690129	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:17690129G>A	uc001baj.2	+	16	1899	c.1871G>A	c.(1870-1872)GGC>GAC	p.G624D		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	624					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCCACTGGGCCTCCAGTGC	0.617		NaN											0	0	0	0.00308	0	7	47				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993374C>A	uc001bjm.2	+	13	1921	c.1697C>A	c.(1696-1698)CCT>CAT	p.P566H	SRRM1_uc010oel.1_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.537		NaN											1	0	1.76689e-08	0.006214	1.93927e-08	5	75				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993386G>T	uc001bjm.2	+	13	1933	c.1709G>T	c.(1708-1710)CGC>CTC	p.R570L	SRRM1_uc010oel.1_Missense_Mutation_p.R582L|SRRM1_uc009vrh.1_Missense_Mutation_p.R543L|SRRM1_uc009vri.1_Missense_Mutation_p.R499L|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.532		NaN											1	0	0.000673444	0.008291	0.000715866	5	77				
LSM10	84967	broad.mit.edu	37	1	36859515	36859515	+	Silent	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:36859515G>C	uc001cao.1	-	2	366	c.216C>G	c.(214-216)CTC>CTG	p.L72L		NM_032881	NP_116270	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	72					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding				0		Myeloproliferative disorder(586;0.0393)				CTGTCACAAAGAGGTCATCCA	0.552		NaN											0	0	0	0.010504	0	21	83				
TTLL7	79739	broad.mit.edu	37	1	84373315	84373315	+	Missense_Mutation	SNP	G	G	A	rs143330409		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:84373315G>A	uc001djc.2	-	16	2212	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	606					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAGATGGACCGAGGGCAGCTG	0.468		NaN											0	0	0	0.021553	0	5	34				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254		NaN											0	0	0	0.021553	0	5	82				
FMO3	2328	broad.mit.edu	37	1	171086316	171086316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:171086316C>T	uc001ghi.2	+	9	1444	c.1333C>T	c.(1333-1335)CCC>TCC	p.P445S	FMO3_uc001ghh.2_Missense_Mutation_p.P445S|FMO3_uc010pmb.1_Missense_Mutation_p.P425S|FMO3_uc010pmc.1_Missense_Mutation_p.P382S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	445				KP -> T (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGGCAAAGCCCAACATCCC	0.483		NaN											0	0	0	0.025465	0	39	51				
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:175067712C>T	uc001gkl.1	+	9	2213	c.2100C>T	c.(2098-2100)GCC>GCT	p.A700A	TNN_uc010pmx.1_Silent_p.A611A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572		NaN											0	0	0	0.015359	0	33	91				
KDM5B	10765	broad.mit.edu	37	1	202710600	202710600	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:202710600C>T	uc001gyf.2	-	19	2956	c.2840G>A	c.(2839-2841)GGG>GAG	p.G947E	KDM5B_uc009xag.2_Missense_Mutation_p.G983E|KDM5B_uc001gyg.1_Missense_Mutation_p.G789E	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	947					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						CGGGGCCAGCCCTACCCCTAG	0.547		NaN											0	0	0	0.015359	0	35	61				
OR2T1	26696	broad.mit.edu	37	1	248570286	248570286	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:248570286C>T	uc010pzm.1	+	1	991	c.991C>T	c.(991-993)CTC>TTC	p.L331F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	331	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTACACCATTCTCACACCCAT	0.527		NaN											0	0	0	0.01441	0	60	210				
INPP5F	22876	broad.mit.edu	37	10	121557048	121557048	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:121557048A>G	uc001leo.2	+	8	1110	c.944A>G	c.(943-945)CAT>CGT	p.H315R		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	315	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGTTGATTCATGTTCATAAT	0.423		NaN											0	0	0	0.020292	0	12	16				
OR2AG2	338755	broad.mit.edu	37	11	6789447	6789447	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:6789447C>T	uc001meq.1	-	1	742	c.742G>A	c.(742-744)GTC>ATC	p.V248I		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACATCCCGACCACAATCAGG	0.483		NaN											0	0	0	0.012319	0	23	17				
OR5D18	219438	broad.mit.edu	37	11	55587220	55587220	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:55587220A>T	uc010rin.1	+	1	115	c.115A>T	c.(115-117)ACT>TCT	p.T39S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CTACAATGTCACTGTGCTAGG	0.453		NaN											0	0	0	0.01441	0	102	101				
TMEM123	114908	broad.mit.edu	37	11	102272686	102272686	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102272686G>A	uc001pha.2	-	3	830	c.409C>T	c.(409-411)CAC>TAC	p.H137Y	TMEM123_uc009yxc.2_Missense_Mutation_p.H118Y	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	137	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GAACTATTGTGGGTTACGGTC	0.373		NaN											0	0	0	0.01441	0	939	45				
CD163	9332	broad.mit.edu	37	12	7656275	7656275	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:7656275G>A	uc001qsz.3	-	1	140	c.12C>T	c.(10-12)CTC>CTT	p.L4L	CD163_uc001qta.3_Silent_p.L4L|CD163_uc009zfw.2_Silent_p.L4L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	4					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCACCATTCTGAGTTTGCTCA	0.318		NaN											0	0	0	0.013537	0	10	68				
ABCC9	10060	broad.mit.edu	37	12	21997778	21997778	+	Silent	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:21997778A>G	uc001rfi.1	-	25	3188	c.3168T>C	c.(3166-3168)ACT>ACC	p.T1056T	ABCC9_uc001rfh.2_Silent_p.T1056T|ABCC9_uc001rfj.1_Silent_p.T1020T	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1056	ABC transmembrane type-1 2.|Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCATTCTACAGTGAGGGATG	0.418		NaN											0	0	0	0.01441	0	53	69				
CAPRIN2	65981	broad.mit.edu	37	12	30873763	30873763	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:30873763C>A	uc001rji.1	-	12	2881	c.2130G>T	c.(2128-2130)ATG>ATT	p.M710I	CAPRIN2_uc001rjf.1_Missense_Mutation_p.M507I|CAPRIN2_uc001rjg.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjh.1_Missense_Mutation_p.M710I|CAPRIN2_uc001rjj.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjk.3_Missense_Mutation_p.M710I|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	710					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTGAGGTCATAAACTCTG	0.378		NaN											1	0	6.97489e-18	0.021022	8.04795e-18	36	118				
SLC2A13	114134	broad.mit.edu	37	12	40499322	40499322	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:40499322A>C	uc010skm.1	-	1	340	c.289T>G	c.(289-291)TAT>GAT	p.Y97D	SLC2A13_uc001rmf.2_Missense_Mutation_p.Y97D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	97	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				CCGGTGTCATAGCCAAACAGG	0.592		NaN								HNSCC(50;0.14)			0	0	0	0.004482	0	6	3				
CNTN1	1272	broad.mit.edu	37	12	41421677	41421677	+	Missense_Mutation	SNP	G	G	A	rs143121881		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:41421677G>A	uc001rmm.1	+	22	2842	c.2729G>A	c.(2728-2730)AGG>AAG	p.R910K	CNTN1_uc001rmn.1_Missense_Mutation_p.R899K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	910	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGCCTCCAAGGATCATCAGT	0.393		NaN											0	0	0	0.01441	0	49	26				
ACVRL1	94	broad.mit.edu	37	12	52307405	52307405	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:52307405G>A	uc001rzj.2	+	4	659	c.376G>A	c.(376-378)GTG>ATG	p.V126M	ACVRL1_uc001rzk.2_Missense_Mutation_p.V126M|ACVRL1_uc010snm.1_Intron	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	126	Helical; (Potential).				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGGGCCCCGTGCTGGCCTT	0.682		NaN							Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.027356	0	24	10				
ATP5B	506	broad.mit.edu	37	12	57039660	57039660	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:57039660G>C	uc001slr.2	-	1	193	c.88C>G	c.(88-90)CAG>GAG	p.Q30E	SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	30					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						AGTAAGAGCTGAGCTGGGGGC	0.657		NaN											0	0	0	0.004672	0	3	13				
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:48947629G>T	uc001vcb.2	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(14)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.264		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			1	0	1.17004e-41	0.01441	1.41032e-41	66	54		Valid		
LMO7	4008	broad.mit.edu	37	13	76427232	76427232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:76427232G>T	uc001vjv.2	+	25	4430	c.3670G>T	c.(3670-3672)GAA>TAA	p.E1224*	LMO7_uc010thv.1_Nonsense_Mutation_p.E1175*|LMO7_uc010thw.1_Nonsense_Mutation_p.E1101*	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1509						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTCAGAGGCGAATCTTTAGA	0.378		NaN											1	0	1.55811e-20	0.008361	1.82909e-20	27	81				
BMP4	652	broad.mit.edu	37	14	54418914	54418914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:54418914C>A	uc001xal.3	-	2	214	c.27G>T	c.(25-27)ATG>ATT	p.M9I	BMP4_uc010aoh.2_Missense_Mutation_p.M9I|BMP4_uc001xao.3_Missense_Mutation_p.M9I|BMP4_uc001xan.3_Missense_Mutation_p.M9I	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	9					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						ATAAAACGACCATCAGCATTC	0.493		NaN											1	0	2.45108e-15	0.00874	2.75746e-15	42	65				
ANGEL1	23357	broad.mit.edu	37	14	77275517	77275517	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:77275517T>C	uc001xsv.2	-	2	647	c.534A>G	c.(532-534)CCA>CCG	p.P178P	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	178										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCAACACCGCTGGGTCCTCTT	0.652		NaN											0	0	0	0.00499	0	15	37				
ATP10A	57194	broad.mit.edu	37	15	25925012	25925012	+	Missense_Mutation	SNP	C	C	A	rs141308074		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:25925012C>A	uc010ayu.2	-	21	4082	c.3976G>T	c.(3976-3978)GCT>TCT	p.A1326S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1326	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCCCTGAGCAAAGGTCTCT	0.597		NaN											1	0	1.02067e-35	0.01441	1.21938e-35	50	50				
MAP2K1	5604	broad.mit.edu	37	15	66777338	66777338	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:66777338T>A	uc010bhq.2	+	7	1179	c.704T>A	c.(703-705)CTC>CAC	p.L235H	MAP2K1_uc010ujp.1_Missense_Mutation_p.L213H	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	235	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CCAGAAAGACTCCAGGGGACT	0.517		NaN							Cardiofaciocutaneous_syndrome				0	0	0	0.01441	0	86	143				
FBXO22	26263	broad.mit.edu	37	15	76225291	76225291	+	Missense_Mutation	SNP	T	T	G	rs150074021		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:76225291T>G	uc002bbk.2	+	7	1165	c.1060T>G	c.(1060-1062)TTA>GTA	p.L354V	FBXO22_uc002bbl.2_Missense_Mutation_p.L250V|FBXO22OS_uc002bbm.1_RNA	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	354					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						TAGTGTTCCCTTATTCGGCTT	0.408		NaN											0	0	0	0.01441	0	49	87				
ST20	400410	broad.mit.edu	37	15	80191455	80191455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:80191455C>T	uc002bez.3	-	3	738	c.58G>A	c.(58-60)GTA>ATA	p.V20I	ST20_uc002bfa.3_Missense_Mutation_p.V20I|MTHFS_uc002bex.3_5'Flank	NM_001100879	NP_001094349	Q9HBF5	ST20_HUMAN	cervical cancer suppressor-1	20											0						AGCTTCTTTACAAAGCCATTT	0.318		NaN											0	0	0	0.008871	0	18	44				
CLUAP1	23059	broad.mit.edu	37	16	3556338	3556338	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3556338C>G	uc002cvk.1	+	3	247	c.142C>G	c.(142-144)CCC>GCC	p.P48A	CLUAP1_uc002cvj.1_Missense_Mutation_p.P48A|CLUAP1_uc002cvl.1_Missense_Mutation_p.P48A	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	48						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TAGATATGAGCCCCAGACTGA	0.483		NaN											0	0	0	0.01441	0	80	48				
CREBBP	1387	broad.mit.edu	37	16	3788647	3788647	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3788647C>T	uc002cvv.2	-	26	4511	c.4307G>A	c.(4306-4308)AGT>AAT	p.S1436N	CREBBP_uc002cvw.2_Missense_Mutation_p.S1398N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAAATGAATACTATCCAGATA	0.423		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.010818	0	33	11		Valid		
CP110	9738	broad.mit.edu	37	16	19547561	19547561	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:19547561C>G	uc002dgl.3	+	4	817	c.570C>G	c.(568-570)ACC>ACG	p.T190T	CP110_uc002dgk.3_Silent_p.T190T			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	190	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TTCCAAAGACCTCTTCAGCAA	0.393		NaN											0	0	0	0.01441	0	126	66				
GP2	2813	broad.mit.edu	37	16	20337750	20337750	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:20337750G>C	uc002dgv.2	-	2	87	c.4C>G	c.(4-6)CCT>GCT	p.P2A	GP2_uc002dgw.2_Missense_Mutation_p.P2A|GP2_uc002dgx.2_Missense_Mutation_p.P2A|GP2_uc002dgy.2_Missense_Mutation_p.P2A	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	2						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ATAAGGTGAGGCATGCAGGTC	0.498		NaN											0	0	0	0.01441	0	68	30				
FTO	79068	broad.mit.edu	37	16	53967950	53967950	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:53967950G>A	uc002ehr.2	+	8	1515	c.1293G>A	c.(1291-1293)AGG>AGA	p.R431R	FTO_uc010vha.1_Silent_p.R135R|FTO_uc010cbz.2_Silent_p.R32R|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	431					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGGAACAAAGGAATGAAATCT	0.428		NaN											0	0	0	0.009096	0	4	64				
CDH1	999	broad.mit.edu	37	16	68842337	68842337	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:68842337C>T	uc002ewg.1	+	4	522	c.398C>T	c.(397-399)TCT>TTT	p.S133F	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.S133F	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	133					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCCGTTTCTGGAATCCAA	0.478		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.01441	0	51	78				
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:70917863G>A	uc002ezr.2	-	59	10064	c.9936C>T	c.(9934-9936)GCC>GCT	p.A3312A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3313										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.488		NaN											0	0	0	0.016723	0	13	59				
KRT32	3882	broad.mit.edu	37	17	39623211	39623211	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:39623211C>T	uc002hwr.2	-	1	428	c.367G>A	c.(367-369)GAG>AAG	p.E123K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	123	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				CTCTCCAGCTCCGCATTCTCC	0.572		NaN											0	0	0	0.013114	0	49	148				
TLK2	11011	broad.mit.edu	37	17	60673977	60673977	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:60673977G>C	uc010ddp.2	+	18	1826	c.1558G>C	c.(1558-1560)GAG>CAG	p.E520Q	TLK2_uc002izx.3_Missense_Mutation_p.E346Q|TLK2_uc002izz.3_Missense_Mutation_p.E498Q|TLK2_uc002jaa.3_Missense_Mutation_p.E466Q|TLK2_uc010wpd.1_Missense_Mutation_p.E466Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	520	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GATTCATAAAGAGCTGGATCA	0.373		NaN											0	0	0	0.009718	0	40	118				
ARHGAP28	79822	broad.mit.edu	37	18	6876136	6876136	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:6876136G>C	uc010wzi.1	+	9	926	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	ARHGAP28_uc002knc.2_Missense_Mutation_p.E355Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.E239Q			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	230					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CTAGTTTTTTGAGAAAGTTGA	0.318		NaN											0	0	0	0.006214	0	9	96				
DSC3	1825	broad.mit.edu	37	18	28576944	28576944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:28576944G>C	uc002kwj.3	-	15	2461	c.2306C>G	c.(2305-2307)TCA>TGA	p.S769*	DSC3_uc002kwi.3_Nonsense_Mutation_p.S769*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	769	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTTCATTCCTGATCCCATAGT	0.433		NaN											0	0	0	0.012319	0	22	64				
DCC	1630	broad.mit.edu	37	18	50450132	50450132	+	Silent	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:50450132C>A	uc002lfe.1	+	4	1340	c.753C>A	c.(751-753)GCC>GCA	p.A251A	DCC_uc010xdr.1_Silent_p.A99A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	251	Extracellular (Potential).|Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTAGTAGCCATTGAAGGAA	0.418		NaN											1	0	1.08052e-11	0.019004	1.19566e-11	35	53				
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:51013172G>A	uc002lfe.1	+	26	4329	c.3742G>A	c.(3742-3744)GTG>ATG	p.V1248M	DCC_uc010dpf.1_Missense_Mutation_p.V883M	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1248	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488		NaN											0	0	0	0.01441	0	67	94				
C19orf28	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:3550991G>A	uc002lxz.2	-	2	670	c.500C>T	c.(499-501)ACG>ATG	p.T167M	C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	167					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGTGCCGTGAGCTCCAC	0.557		NaN											0	0	0	0.014323	0	23	15				
CCL25	6370	broad.mit.edu	37	19	8122718	8122718	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:8122718G>C	uc002mjd.2	+	4	359	c.359G>C	c.(358-360)GGA>GCA	p.G120A	CCL25_uc002mjc.3_Missense_Mutation_p.G119A|CCL25_uc010dvy.1_Missense_Mutation_p.W75C	NM_005624	NP_005615	O15444	CCL25_HUMAN	small inducible cytokine A25 precursor	120					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0						ttgagttctggaaactccaag	0		NaN											0	0	0	0.009535	0	17	68				
ZNF714	148206	broad.mit.edu	37	19	21300901	21300901	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:21300901G>A	uc002npo.3	+	6	1794	c.1434G>A	c.(1432-1434)GAG>GAA	p.E478E	ZNF714_uc002npl.2_Silent_p.E323E|ZNF714_uc010ecp.1_Silent_p.E429E|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATACTGGAGAGAAATCTTACA	0.308		NaN											0	0	0	0.020292	0	14	42				
NFKBID	84807	broad.mit.edu	37	19	36387690	36387690	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:36387690A>T	uc002oci.1	-	6	770	c.196T>A	c.(196-198)TAT>AAT	p.Y66N	NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Y81N	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	66	ANK 1.				inflammatory response	nucleus					0						GCCGCAGCATATGCCGCCCAG	0.473		NaN											0	0	0	0.012319	0	20	25				
FAM98C	147965	broad.mit.edu	37	19	38893808	38893808	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:38893808G>A	uc002oin.1	+	1	34	c.15G>A	c.(13-15)AAG>AAA	p.K5K	FAM98C_uc002oio.1_Silent_p.K5K|FAM98C_uc010xtz.1_Silent_p.K5K	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	5										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGTGAAGGCGGAAGCGT	0.726		NaN											0	0	0	0.021553	0	4	22				
ZNF230	7773	broad.mit.edu	37	19	44514476	44514476	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:44514476C>G	uc002oyb.1	+	5	536	c.285C>G	c.(283-285)ATC>ATG	p.I95M		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	95	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GCCAGCAAATCTGGGAACAAA	0.468		NaN											0	0	0	0.010729	0	10	62				
ZNF211	10520	broad.mit.edu	37	19	58152819	58152819	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58152819T>C	uc002qpq.2	+	3	1145	c.965T>C	c.(964-966)TTT>TCT	p.F322S	ZNF211_uc010yhb.1_Missense_Mutation_p.F326S|ZNF211_uc002qpp.2_Missense_Mutation_p.F335S|ZNF211_uc002qpr.2_Missense_Mutation_p.F386S|ZNF211_uc002qps.2_Missense_Mutation_p.F387S|ZNF211_uc002qpt.2_Missense_Mutation_p.F334S|ZNF211_uc010yhc.1_Missense_Mutation_p.F334S|ZNF211_uc010yhd.1_Missense_Mutation_p.F261S|ZNF211_uc010yhe.1_Missense_Mutation_p.F313S	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	322	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAATCGTTTAGTCAGATA	0.418		NaN											0	0	0	0.01441	0	49	75				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.00198382	0.001984	0.00209231	7	20				
ASB3	51130	broad.mit.edu	37	2	53992709	53992709	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:53992709T>C	uc002rxg.1	-	2	136	c.1A>G	c.(1-3)ATG>GTG	p.M1V	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.M39V|ASB3_uc010yoo.1_Missense_Mutation_p.M1V|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	1					intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAAATCCATTTGTTTGACC	0.443		NaN											0	0	0	0.00499	0	16	107				
C2orf78	388960	broad.mit.edu	37	2	74043846	74043846	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:74043846G>T	uc002sjr.1	+	3	2617	c.2496G>T	c.(2494-2496)GTG>GTT	p.V832V		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	832										ovary(2)	2						CCACTGCTGTGACCAGTCTCC	0.493		NaN											1	0	0.000442599	0.006214	0.000474214	9	69				
TTN	7273	broad.mit.edu	37	2	179597433	179597433	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:179597433A>G	uc010zfg.1	-	53	12847	c.12623T>C	c.(12622-12624)TTT>TCT	p.F4208S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F869S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5135							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGTTACAAAACTGGGTGG	0.403		NaN											0	0	0	0.008291	0	11	13				
COL4A4	1286	broad.mit.edu	37	2	227953429	227953429	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:227953429G>T	uc010zlt.1	-	22	2217	c.1563C>A	c.(1561-1563)GGC>GGA	p.G521G		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	521	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCAAGCCAGCCAGGGAGCC	0.587		NaN											1	0	9.4957e-49	0.01441	1.15488e-48	111	71				
ProSAPiP1	9762	broad.mit.edu	37	20	3147630	3147630	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:3147630C>T	uc002wia.1	-	1	1578	c.180G>A	c.(178-180)GGG>GGA	p.G60G	ProSAPiP1_uc002wib.1_Silent_p.G60G	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	60	Poly-Gly.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						TGCCCCCACCCCCTGTGCGGG	0.716		NaN											0	0	0	0.010729	0	11	19				
CD93	22918	broad.mit.edu	37	20	23066316	23066316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:23066316C>T	uc002wsv.2	-	1	662	c.514G>A	c.(514-516)GGA>AGA	p.G172R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	172	Extracellular (Potential).|C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ATGTTACTTCCGGGGGAGCCT	0.652		NaN											0	0	0	0.016723	0	12	111				
EMILIN3	90187	broad.mit.edu	37	20	39992445	39992445	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:39992445A>T	uc002xjy.1	-	3	571	c.347T>A	c.(346-348)CTC>CAC	p.L116H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	116	EMI.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACGCCAGGCGAGGTCTGTCAC	0.617		NaN											0	0	0	0.01441	0	61	136				
MMP9	4318	broad.mit.edu	37	20	44640354	44640354	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:44640354G>A	uc002xqz.2	+	6	984	c.965G>A	c.(964-966)CGG>CAG	p.R322Q		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	322	Fibronectin type-II 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AACTACGACCGGGACAAGCTC	0.627		NaN									OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	5	28				
SON	6651	broad.mit.edu	37	21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:34926719A>G	uc002yse.1	+	3	5231	c.5182A>G	c.(5182-5184)ATT>GTT	p.I1728V	SON_uc002ysb.1_Missense_Mutation_p.I1728V|SON_uc002ysc.2_Missense_Mutation_p.I1728V|SON_uc002ysd.2_Missense_Mutation_p.I719V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.I719V	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1728					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TATTGAGGATATTAATGAAGC	0.433		NaN											0	0	0	0.01441	0	78	150				
PCNT	5116	broad.mit.edu	37	21	47783573	47783573	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:47783573C>G	uc002zji.3	+	14	2440	c.2333C>G	c.(2332-2334)GCT>GGT	p.A778G	PCNT_uc002zjj.2_Missense_Mutation_p.A660G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	778	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGAGAAAAGGCTGAATCCGAG	0.463		NaN											0	0	0	0.024245	0	15	149				
POTEH	23784	broad.mit.edu	37	22	16279260	16279260	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:16279260T>C	uc010gqp.2	-	4	1015	c.963A>G	c.(961-963)AAA>AAG	p.K321K	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.K40K|POTEH_uc002zlj.1_Silent_p.K156K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	321	ANK 5.									skin(1)	1						CCACTTGCTGTTTTTGCTCAT	0.323		NaN											0	0	0	0.015359	0	32	446				
SLC5A4	6527	broad.mit.edu	37	22	32647856	32647856	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:32647856G>A	uc003ami.2	-	3	215	c.213C>T	c.(211-213)GGC>GGT	p.G71G		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	71	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						AGAGAGAGGCGCCCATCTGGA	0.438		NaN											0	0	0	0.01441	0	44	35				
FBLN2	2199	broad.mit.edu	37	3	13669333	13669333	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:13669333C>T	uc011avb.1	+	10	2417	c.2292C>T	c.(2290-2292)GAC>GAT	p.D764D	FBLN2_uc011auz.1_Silent_p.D790D|FBLN2_uc011ava.1_Silent_p.D811D|FBLN2_uc011avc.1_Silent_p.D811D	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	764	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCTGCAGACGTGGATGAGT	0.652		NaN											0	0	0	0.016723	0	12	24				
ITGA9	3680	broad.mit.edu	37	3	37826549	37826549	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:37826549G>C	uc003chd.2	+	26	2922	c.2869G>C	c.(2869-2871)GGG>CGG	p.G957R		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	957	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATAGCTCATGGGAACCCAGA	0.562		NaN											0	0	0	0.014323	0	21	67				
PLXNB1	5364	broad.mit.edu	37	3	48453976	48453976	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48453976G>A	uc003csw.2	-	26	5178	c.4908C>T	c.(4906-4908)TAC>TAT	p.Y1636Y	PLXNB1_uc003cst.2_Silent_p.Y86Y|PLXNB1_uc003csu.2_Silent_p.Y1453Y|PLXNB1_uc003csx.2_Silent_p.Y1636Y	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1636	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGATGCCACGTAGGCACGGT	0.572		NaN											0	0	0	0.00499	0	18	58				
COL7A1	1294	broad.mit.edu	37	3	48605196	48605196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48605196C>A	uc003ctz.2	-	107	7931	c.7930G>T	c.(7930-7932)GGA>TGA	p.G2644*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2644	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCTTCTCCCTGCAGGCAT	0.672		NaN											1	0	5.99346e-17	0.01441	6.85692e-17	54	139				
LRIG1	26018	broad.mit.edu	37	3	66430809	66430809	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:66430809A>G	uc003dmx.2	-	19	3174	c.3160T>C	c.(3160-3162)TAC>CAC	p.Y1054H	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.Y674H|LRIG1_uc003dmw.2_Missense_Mutation_p.Y720H|LRIG1_uc010hnz.2_Missense_Mutation_p.Y770H|LRIG1_uc010hoa.2_Missense_Mutation_p.Y1031H	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1054	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAAGCAAGTACTGGGCTTCC	0.567		NaN											0	0	0	0.025465	0	38	131				
GPR128	84873	broad.mit.edu	37	3	100364943	100364943	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:100364943T>C	uc003duc.2	+	9	1369	c.1101T>C	c.(1099-1101)TTT>TTC	p.F367F	GPR128_uc011bhc.1_Silent_p.F68F	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	367	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						ACATGGTCTTTAGTCCAAAGG	0.378		NaN											0	0	0	0.012213	0	29	51				
STXBP5L	9515	broad.mit.edu	37	3	120973778	120973778	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:120973778A>T	uc003eec.3	+	16	1618	c.1478A>T	c.(1477-1479)AAA>ATA	p.K493I	STXBP5L_uc011bji.1_Missense_Mutation_p.K493I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	493					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AAAACTTCAAAAGTGTTTGAA	0.348		NaN											0	0	0	0.013537	0	11	21				
ACPP	55	broad.mit.edu	37	3	132050577	132050577	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:132050577G>A	uc010htp.2	+	3	393	c.303G>A	c.(301-303)CAG>CAA	p.Q101Q	ACPP_uc003eon.3_Silent_p.Q101Q|ACPP_uc003eop.3_Silent_p.Q101Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	101						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						AACATGAACAGGCAAGTTGGG	0.348		NaN											0	0	0	0.004482	0	8	21				
ZNF639	51193	broad.mit.edu	37	3	179050893	179050893	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:179050893C>T	uc003fjq.1	+	5	629	c.286C>T	c.(286-288)CAC>TAC	p.H96Y	ZNF639_uc003fjr.1_Missense_Mutation_p.H96Y	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	96					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			aattctagaccacactgcctT	0.119		NaN											0	0	0	0.001984	0	7	13				
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:72399971G>A	uc003hfy.2	+	18	2425	c.2308G>A	c.(2308-2310)GTT>ATT	p.V770I	SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	770	Interaction with CA4.|Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGTTGGTTCGTTCCACCGTT	0.423		NaN											0	0	0	0.008871	0	19	32				
INTU	27152	broad.mit.edu	37	4	128632073	128632073	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:128632073C>T	uc003ifk.1	+	14	2445	c.2375C>T	c.(2374-2376)ACA>ATA	p.T792I	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	792										ovary(1)	1						TTAAGACTGACATCTGGTCCT	0.333		NaN											0	0	0	0.01441	0	48	30				
USP38	84640	broad.mit.edu	37	4	144134859	144134859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:144134859G>A	uc003ijb.2	+	9	2264	c.1730G>A	c.(1729-1731)CGT>CAT	p.R577H	USP38_uc003ija.3_Missense_Mutation_p.R577H|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	577					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GAGACCCCTCGTACAAGTGAC	0.413		NaN											0	0	0	0.00308	0	7	43				
FBXW7	55294	broad.mit.edu	37	4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:153253770C>T	uc003ims.2	-	6	1112	c.963G>A	c.(961-963)TGG>TGA	p.W321*	FBXW7_uc011cii.1_Nonsense_Mutation_p.W321*|FBXW7_uc003imt.2_Nonsense_Mutation_p.W321*|FBXW7_uc011cih.1_Nonsense_Mutation_p.W145*|FBXW7_uc003imq.2_Nonsense_Mutation_p.W241*|FBXW7_uc003imr.2_Nonsense_Mutation_p.W203*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	321	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTCTCTCTCCAGAGAAGGT	0.393		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.013726	0	32	19		Valid		
HCN1	348980	broad.mit.edu	37	5	45303773	45303773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:45303773G>A	uc003jok.2	-	6	1571	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	516	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ACACCGTGTTGAATGAAATAC	0.388		NaN											0	0	0	0.006214	0	10	116				
MAP1B	4131	broad.mit.edu	37	5	71494957	71494957	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:71494957C>G	uc003kbw.3	+	5	6016	c.5775C>G	c.(5773-5775)ACC>ACG	p.T1925T	MAP1B_uc010iyw.1_Silent_p.T1942T|MAP1B_uc010iyx.1_Silent_p.T1799T|MAP1B_uc010iyy.1_Silent_p.T1799T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1925	MAP1B 3.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTATGAGACCATTGGGAAAA	0.463		NaN											0	0	0	0.00308	0	8	71				
KDM3B	51780	broad.mit.edu	37	5	137761206	137761206	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:137761206G>T	uc003lcy.1	+	17	4546	c.4346G>T	c.(4345-4347)AGG>ATG	p.R1449M	KDM3B_uc010jew.1_Missense_Mutation_p.R1105M|KDM3B_uc011cys.1_Missense_Mutation_p.R481M	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GTGAACTGCAGGAACTGTGCT	0.448		NaN											1	0	1.61788e-16	0.012213	1.83541e-16	33	111				
OR10C1	442194	broad.mit.edu	37	6	29408490	29408490	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:29408490G>A	uc011dlp.1	+	1	698	c.698G>A	c.(697-699)CGC>CAC	p.R233H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTTGCGGGCCGCCGCAAGGCC	0.587		NaN											0	0	0	0.017118	0	32	313				
GPR111	222611	broad.mit.edu	37	6	47649716	47649716	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:47649716A>T	uc010jzj.1	+	6	1422	c.1421A>T	c.(1420-1422)CAA>CTA	p.Q474L	GPR111_uc010jzk.1_Missense_Mutation_p.Q406L|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	474	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTCTGGAGCCAAGTGACAAAG	0.448		NaN											0	0	0	0.01441	0	68	63				
AHR	196	broad.mit.edu	37	7	17378759	17378759	+	Missense_Mutation	SNP	G	G	T	rs138430398		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:17378759G>T	uc011jxz.1	+	10	1923	c.1310G>T	c.(1309-1311)GGA>GTA	p.G437V	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	437					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GGCACTAGTGGAAAAGACTCT	0.438		NaN											1	0	3.03874e-20	0.015359	3.53646e-20	35	65				
PDE1C	5137	broad.mit.edu	37	7	31912954	31912954	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:31912954A>G	uc003tcm.1	-	6	1029	c.560T>C	c.(559-561)TTT>TCT	p.F187S	PDE1C_uc003tcn.1_Missense_Mutation_p.F187S|PDE1C_uc003tco.1_Missense_Mutation_p.F247S|PDE1C_uc003tcr.2_Missense_Mutation_p.F187S|PDE1C_uc003tcs.2_Missense_Mutation_p.F187S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	187					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ATAGAAAATAAATTTCAGTGC	0.398		NaN											0	0	0	0.007291	0	25	32				
SEMA3A	10371	broad.mit.edu	37	7	83675657	83675657	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:83675657T>A	uc003uhz.2	-	6	965	c.650A>T	c.(649-651)GAT>GTT	p.D217V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	217	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						CCACCTGGAATCATGCTGCTC	0.428		NaN											0	0	0	0.008871	0	17	139				
ZKSCAN5	23660	broad.mit.edu	37	7	99117480	99117480	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:99117480C>T	uc003uqv.2	+	4	708	c.584C>T	c.(583-585)CCC>CTC	p.P195L	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTCCCTTCCCCTGAAGGAC	0.532		NaN											0	0	0	0.012213	0	28	91				
FBXO24	26261	broad.mit.edu	37	7	100189393	100189393	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:100189393C>T	uc003uvm.1	+	4	719	c.426C>T	c.(424-426)ACC>ACT	p.T142T	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.T128T|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.T180T|FBXO24_uc011kka.1_Silent_p.T130T	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	142						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCCCACCAAGGATCACG	0.607		NaN											0	0	0	0.01441	0	41	66				
RELN	5649	broad.mit.edu	37	7	103243875	103243875	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:103243875A>G	uc003vca.2	-	24	3369	c.3209T>C	c.(3208-3210)ATG>ACG	p.M1070T	RELN_uc010liz.2_Missense_Mutation_p.M1070T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1070					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAATCTGACATAATTGTGGA	0.507		NaN											0	0	0	0.009535	0	31	93				
RNF133	168433	broad.mit.edu	37	7	122338738	122338738	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:122338738C>G	uc003vkj.1	-	1	471	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	79	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						ATTTTTCCCTCTGGTGGCACT	0.448		NaN											0	0	0	0.019004	0	38	94				
ANK1	286	broad.mit.edu	37	8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:41615618G>A	uc003xok.2	-	2	149	c.65C>T	c.(64-66)TCA>TTA	p.S22L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.S22L|ANK1_uc003xoj.2_Missense_Mutation_p.S22L|ANK1_uc003xol.2_Missense_Mutation_p.S22L|ANK1_uc003xom.2_Missense_Mutation_p.S55L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	22	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507		NaN											0	0	0	0.01441	0	63	297				
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:131861957G>C	uc003ytd.3	-	10	2559	c.2303C>G	c.(2302-2304)CCC>CGC	p.P768R	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	768					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGGATGAGGGGCAAACATTT	0.473		NaN								HNSCC(32;0.087)			0	0	0	0.020292	0	15	41				
ARHGAP39	80728	broad.mit.edu	37	8	145770746	145770746	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:145770746C>T	uc003zdt.1	-	7	2963	c.2408G>A	c.(2407-2409)CGC>CAC	p.R803H	ARHGAP39_uc011llk.1_Missense_Mutation_p.R803H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R803H	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	803	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTCCCAGCCGCGGGCCAGGCT	0.662		NaN											0	0	0	0.008291	0	10	99				
FRMPD1	22844	broad.mit.edu	37	9	37746199	37746199	+	Silent	SNP	C	C	T	rs147765962		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:37746199C>T	uc004aag.1	+	16	4214	c.4170C>T	c.(4168-4170)ACC>ACT	p.T1390T	FRMPD1_uc004aah.1_Silent_p.T1390T	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1390						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GCTGCACCACCGCACCCCTGT	0.662		NaN											0	0	0	0.01441	0	66	71				
C9orf41	138199	broad.mit.edu	37	9	77642968	77642968	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642968C>T	uc004ajq.2	-	1	343	c.190G>A	c.(190-192)GAG>AAG	p.E64K	C9orf41_uc011lsi.1_RNA	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	64										ovary(1)|skin(1)	2						CAGAAGTGCTCACGCTCAAGC	0.557		NaN											0	0	0	0.009096	0	4	10				
C9orf41	138199	broad.mit.edu	37	9	77642970	77642970	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642970C>T	uc004ajq.2	-	1	341	c.188G>A	c.(187-189)CGT>CAT	p.R63H	C9orf41_uc011lsi.1_RNA	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	63										ovary(1)|skin(1)	2						GAAGTGCTCACGCTCAAGCCT	0.557		NaN											0	0	0	0.009096	0	4	10				
GCNT1	2650	broad.mit.edu	37	9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:79118499A>C	uc010mpf.2	+	3	1543	c.1202A>C	c.(1201-1203)AAG>ACG	p.K401T	GCNT1_uc010mpg.2_Missense_Mutation_p.K401T|GCNT1_uc010mph.2_Missense_Mutation_p.K401T|GCNT1_uc004akf.3_Missense_Mutation_p.K401T|GCNT1_uc010mpi.2_Missense_Mutation_p.K401T|GCNT1_uc004akh.3_Missense_Mutation_p.K401T	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	401	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						TTTGCCAATAAGTTTGACGTG	0.488		NaN											0	0	0	0.007413	0	19	142				
AGTPBP1	23287	broad.mit.edu	37	9	88272367	88272367	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:88272367G>A	uc011ltd.1	-	9	925	c.892C>T	c.(892-894)CTG>TTG	p.L298L	AGTPBP1_uc011ltc.1_Silent_p.L196L|AGTPBP1_uc010mqc.2_Silent_p.L298L|AGTPBP1_uc011lte.1_Silent_p.L350L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	298					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GTATTATACAGAATTTTCATC	0.289		NaN											0	0	0	0.00308	0	7	52				
CDK20	23552	broad.mit.edu	37	9	90584799	90584799	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:90584799C>A	uc004apr.2	-	6	905	c.599G>T	c.(598-600)GGG>GTG	p.G200V	CDK20_uc004aps.2_Missense_Mutation_p.G179V|CDK20_uc004apt.2_Missense_Mutation_p.G192V|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	200	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGGGGGGACCCATTCAACAG	0.577		NaN											1	0	4.88506e-25	0.01441	5.78493e-25	60	103				
TMEM47	83604	broad.mit.edu	37	X	34657461	34657461	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:34657461G>T	uc004ddh.2	-	2	529	c.270C>A	c.(268-270)GCC>GCA	p.A90A	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	90	Helical; (Potential).					integral to membrane				lung(1)	1						TGAGAATGATGGCAGCGCCGC	0.448		NaN											1	0	3.09899e-07	0.004482	3.3469e-07	8	7				
BCOR	54880	broad.mit.edu	37	X	39933138	39933138	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:39933138T>C	uc004den.3	-	4	1753	c.1461A>G	c.(1459-1461)CTA>CTG	p.L487L	BCOR_uc004dep.3_Silent_p.L487L|BCOR_uc004deo.3_Silent_p.L487L|BCOR_uc004dem.3_Silent_p.L487L|BCOR_uc004deq.3_Silent_p.L487L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	487					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CTGGAGGAGATAGTGTTTCTT	0.512		NaN											0	0	0	0.009718	0	44	18				
ABCD1	215	broad.mit.edu	37	X	152994806	152994806	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:152994806C>T	uc004fif.2	+	2	1419	c.1020C>T	c.(1018-1020)AGC>AGT	p.S340S		NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	340	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597		NaN											0	0	0	0.028581	0	14	110				
PTCHD2	57540	broad.mit.edu	37	1	11561631	11561631	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:11561631G>T	uc001ash.3	+	2	720	c.582G>T	c.(580-582)AAG>AAT	p.K194N	PTCHD2_uc001asi.1_Missense_Mutation_p.K194N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	194	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGCTCAAAAGCCCACAGCCA	0.697		NaN											1	0	0.00448238	0.047766	0.00450083	8	12				
ATP13A2	23400	broad.mit.edu	37	1	17330838	17330838	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:17330838G>A	uc001baa.2	-	6	736	c.546C>T	c.(544-546)TTC>TTT	p.F182F	ATP13A2_uc001bab.2_Silent_p.F177F|ATP13A2_uc001bac.2_Silent_p.F177F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	182	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGACCTGGTAGAAGGCTTGCT	0.433		NaN											0	0	0	0.047766	0	7	31				
C1orf38	9473	broad.mit.edu	37	1	28212380	28212380	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:28212380G>A	uc001bpc.3	+	6	1907	c.1879G>A	c.(1879-1881)GAT>AAT	p.D627N	C1orf38_uc001boz.2_3'UTR|C1orf38_uc001bpa.2_3'UTR|C1orf38_uc010ofn.1_Missense_Mutation_p.D431N|C1orf38_uc010ofo.1_Missense_Mutation_p.D498N	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	basement membrane-induced gene isoform 3	627	Asp/Glu-rich.				cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGCAGATGATGATGAACA	0.299		NaN											0	0	0	0.069288	0	21	62				
TINAGL1	64129	broad.mit.edu	37	1	32043028	32043028	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32043028C>T	uc001bta.2	+	2	405	c.279C>T	c.(277-279)CTC>CTT	p.L93L	TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Silent_p.L93L|TINAGL1_uc010ogj.1_Silent_p.L93L|TINAGL1_uc010ogk.1_Silent_p.L93L	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	93	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTTCTGCCTCGGCGTGCCAC	0.607		NaN											0	0	0	0.048971	0	60	162				
SPOCD1	90853	broad.mit.edu	37	1	32264127	32264127	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32264127G>T	uc001bts.1	-	8	2002	c.1944C>A	c.(1942-1944)CTC>CTA	p.L648L	SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Silent_p.L648L|SPOCD1_uc001btv.2_Silent_p.L141L|SPOCD1_uc001btw.1_Translation_Start_Site	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	648	TFIIS central.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCAGGTCCCAGAGGGCTGCCT	0.642		NaN											1	0	6.53275e-17	0.020292	7.02199e-17	14	58				
VCAM1	7412	broad.mit.edu	37	1	101194673	101194673	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:101194673T>C	uc001dti.2	+	5	1059	c.939T>C	c.(937-939)TTT>TTC	p.F313F	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Silent_p.F251F	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	313	Ig-like C2-type 4.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAAACCATTTACTGTTGAGA	0.413		NaN											0	0	0	0.020292	0	13	31				
CELSR2	1952	broad.mit.edu	37	1	109806818	109806818	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806818G>A	uc001dxa.3	+	10	5181	c.5120G>A	c.(5119-5121)GGA>GAA	p.G1707E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1707	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGCACTGGGAGCCAGCGGG	0.667		NaN									OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.054565	0	28	94				
CELSR2	1952	broad.mit.edu	37	1	109806952	109806952	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806952G>A	uc001dxa.3	+	10	5315	c.5254G>A	c.(5254-5256)GGC>AGC	p.G1752S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1752	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCCAGCCGGCGGTGTGGC	0.667		NaN									OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.036044	0	36	111				
POLR3C	10623	broad.mit.edu	37	1	145608196	145608196	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:145608196C>T	uc001eoh.2	-	4	662	c.501G>A	c.(499-501)GAG>GAA	p.E167E	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.E180E|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.E167E	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	167					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTCTGAATTCTCAGTGGTAG	0.478		NaN											0	0	0	0.041601	0	30	187				
HRNR	388697	broad.mit.edu	37	1	152193724	152193724	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:152193724A>T	uc001ezt.1	-	3	457	c.381T>A	c.(379-381)TTT>TTA	p.F127L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	127	1.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAATGACTAAAAGAGGATT	0.438		NaN											0	0	0	0.048971	0	55	297				
DCAF6	55827	broad.mit.edu	37	1	168034939	168034939	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:168034939G>C	uc001gew.2	+	16	2520	c.2278G>C	c.(2278-2280)GAT>CAT	p.D760H	DCAF6_uc001gev.2_Missense_Mutation_p.D780H|DCAF6_uc001gex.2_Missense_Mutation_p.D851H|DCAF6_uc010plk.1_Missense_Mutation_p.D820H|DCAF6_uc001gey.2_Missense_Mutation_p.D633H|DCAF6_uc001gez.2_Missense_Mutation_p.D65H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	760	WD 7.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TCTGGAAGCTGATAATCATGT	0.443		NaN											0	0	0	0.048971	0	48	36				
CACNA1S	779	broad.mit.edu	37	1	201056980	201056980	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:201056980G>A	uc001gvv.2	-	7	1205	c.978C>T	c.(976-978)CTC>CTT	p.L326L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	326	I.|Helical; Name=S6 of repeat I; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACCAGGTTGAGGATGAAGA	0.393		NaN											0	0	0	0.080935	0	11	81				
C4BPA	722	broad.mit.edu	37	1	207314560	207314560	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:207314560C>T	uc001hfo.2	+	10	1577	c.1383C>T	c.(1381-1383)GTC>GTT	p.V461V		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	461	Sushi 7.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						ACATTCTGGTCGGACAGGCGA	0.413		NaN											0	0	0	0.027356	0	27	112				
MIA3	375056	broad.mit.edu	37	1	222826648	222826648	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:222826648G>C	uc001hnl.2	+	15	4297	c.4288G>C	c.(4288-4290)GAT>CAT	p.D1430H	MIA3_uc009xea.1_Missense_Mutation_p.D1207H|MIA3_uc001hnm.2_Missense_Mutation_p.D308H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1430	Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AGGTGGAAATGATTCAGATGA	0.418		NaN											0	0	0	0.0333	0	16	56				
NID1	4811	broad.mit.edu	37	1	236208952	236208952	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:236208952G>C	uc001hxo.2	-	3	659	c.557C>G	c.(556-558)TCT>TGT	p.S186C	NID1_uc009xgd.2_Missense_Mutation_p.S186C	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	186	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGGAATCAGAGGAGGCTAG	0.413		NaN											0	0	0	0.028581	0	17	65				
MTPAP	55149	broad.mit.edu	37	10	30602779	30602779	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:30602779C>T	uc001iva.3	-	9	1571	c.1508G>A	c.(1507-1509)CGA>CAA	p.R503Q	MTPAP_uc001ivb.3_Missense_Mutation_p.R633Q	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	503					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						GGCACTTTCTCGGGCCAAATC	0.428		NaN											0	0	0	0.048971	0	57	141				
DUPD1	338599	broad.mit.edu	37	10	76797697	76797697	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:76797697C>T	uc001jwq.1	-	3	560	c.560G>A	c.(559-561)CGG>CAG	p.R187Q		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	187	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAAAAAGCCCCGGTTCGGGAG	0.642		NaN											0	0	0	0.045705	0	32	87				
MINPP1	9562	broad.mit.edu	37	10	89268152	89268152	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:89268152G>C	uc001keu.2	+	2	1147	c.697G>C	c.(697-699)GAG>CAG	p.E233Q	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Missense_Mutation_p.E233Q	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	233					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGATCACTGTGAGAAGTTTTT	0.313		NaN											0	0	0	0.076483	0	23	38				
EIF3A	8661	broad.mit.edu	37	10	120801973	120801973	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:120801973C>T	uc001ldu.2	-	19	3205	c.3059G>A	c.(3058-3060)CGA>CAA	p.R1020Q	EIF3A_uc010qsu.1_Missense_Mutation_p.R986Q|EIF3A_uc009xzg.1_Missense_Mutation_p.R59Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1020	Asp-rich.|10.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCAGTCCTCGTCTAGGTGG	0.587		NaN											0	0	0	0.048971	0	87	212				
IRF7	3665	broad.mit.edu	37	11	612784	612784	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:612784C>A	uc001lqh.2	-	11	1743	c.1373G>T	c.(1372-1374)TGC>TTC	p.C458F	IRF7_uc009ycb.2_Missense_Mutation_p.C352F|IRF7_uc010qwf.1_Missense_Mutation_p.C457F|IRF7_uc001lqf.2_Missense_Mutation_p.C165F|IRF7_uc010qwg.1_Missense_Mutation_p.C165F|IRF7_uc001lqg.2_Missense_Mutation_p.C471F|IRF7_uc001lqi.2_Missense_Mutation_p.C429F|IRF7_uc010qwh.1_Missense_Mutation_p.C165F	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	458					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCACTCGGCACAGCCAGGG	0.672		NaN											1	0	3.6726e-16	0.0918	3.93033e-16	22	52				
KIF18A	81930	broad.mit.edu	37	11	28090880	28090880	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:28090880C>G	uc001msc.2	-	11	1698	c.1516G>C	c.(1516-1518)GAT>CAT	p.D506H		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	506					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						GTATTCTCATCAAATTGCTTC	0.413		NaN											0	0	0	0.083992	0	24	58				
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:35640755G>A	uc001mwh.2	+	1	1021	c.571G>A	c.(571-573)GAG>AAG	p.E191K		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	191						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731		NaN											0	0	0	0.009096	0	3	5				
API5	8539	broad.mit.edu	37	11	43356859	43356859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:43356859G>A	uc010rfh.1	+	12	1483	c.1310G>A	c.(1309-1311)AGC>AAC	p.S437N	API5_uc010rfg.1_Missense_Mutation_p.S426N|API5_uc001mxf.2_Missense_Mutation_p.S437N|API5_uc010rfi.1_Missense_Mutation_p.S383N|API5_uc001mxg.2_Missense_Mutation_p.S311N	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	437					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCTTATAAGAGCACAGTAACA	0.383		NaN											0	0	0	0.036044	0	38	74				
OR8K3	219473	broad.mit.edu	37	11	56086697	56086697	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:56086697T>A	uc010rjf.1	+	1	915	c.915T>A	c.(913-915)AAT>AAA	p.N305K		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GGACATGGAATAACTTATGTA	0.328		NaN											0	0	0	0.058154	0	9	31				
BEST1	7439	broad.mit.edu	37	11	61729849	61729849	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:61729849C>G	uc001nss.2	+	10	1803	c.1223C>G	c.(1222-1224)TCA>TGA	p.S408*	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Nonsense_Mutation_p.S36*|BEST1_uc001nsr.2_Nonsense_Mutation_p.S348*|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Nonsense_Mutation_p.S348*|BEST1_uc001nst.2_Nonsense_Mutation_p.S321*|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Nonsense_Mutation_p.S302*	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	408	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						AGGGCAAACTCAAGGACCAAA	0.577		NaN											0	0	0	0.062417	0	22	62				
METTL12	751071	broad.mit.edu	37	11	62433975	62433975	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:62433975G>A	uc001nug.1	+	3	434	c.175G>A	c.(175-177)GAA>AAA	p.E59K	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_Silent_p.T100T|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	59						mitochondrion	methyltransferase activity				0						TGGATACGACGAAGTCCAGGG	0.612		NaN											0	0	0	0.048971	0	50	93				
CTTN	2017	broad.mit.edu	37	11	70281229	70281229	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:70281229C>T	uc001opv.3	+	18	1820	c.1614C>T	c.(1612-1614)TAC>TAT	p.Y538Y	CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Silent_p.Y501Y|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Silent_p.Y222Y	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	538	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGGGCCGGTACGGGCTCTTCC	0.617		NaN											0	0	0	0.045705	0	32	58				
HEPHL1	341208	broad.mit.edu	37	11	93778916	93778916	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:93778916C>T	uc001pep.2	+	2	405	c.248C>T	c.(247-249)ACG>ATG	p.T83M		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	83	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGACGCTTCACGGATGGAACC	0.453		NaN											0	0	0	0.069234	0	11	34				
MLL	4297	broad.mit.edu	37	11	118376454	118376454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:118376454C>T	uc001pta.2	+	27	9861	c.9838C>T	c.(9838-9840)CGA>TGA	p.R3280*	MLL_uc001ptb.2_Nonsense_Mutation_p.R3283*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3280					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTCATCTCACCGAACTGTCCC	0.433		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.048971	0	49	70		Valid		
OR10S1	219873	broad.mit.edu	37	11	123848195	123848195	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:123848195G>C	uc001pzm.1	-	1	204	c.204C>G	c.(202-204)CTC>CTG	p.L68L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGTAAGCTGAGGTGAGAGT	0.542		NaN											0	0	0	0.02938	0	7	35				
OR8B4	283162	broad.mit.edu	37	11	124294748	124294748	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:124294748G>A	uc010sak.1	-	1	20	c.20C>T	c.(19-21)TCC>TTC	p.S7F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTCACTGAGGAGCTGTTTCT	0.483		NaN											0	0	0	0.02938	0	6	17				
CDON	50937	broad.mit.edu	37	11	125891384	125891384	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:125891384G>C	uc009zbw.2	-	3	236	c.108C>G	c.(106-108)CTC>CTG	p.L36L	CDON_uc001qdc.3_Silent_p.L36L|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.L36L	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	36	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGACAGCAGAGAGCGGCTCAG	0.448		NaN											0	0	0	0.028581	0	16	33				
FOXM1	2305	broad.mit.edu	37	12	2967845	2967845	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:2967845C>T	uc001qlf.2	-	9	2516	c.2251G>A	c.(2251-2253)GAC>AAC	p.D751N	uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.D789N|FOXM1_uc001qlg.2_Missense_Mutation_p.D736N|FOXM1_uc009zea.2_Missense_Mutation_p.D736N|FOXM1_uc009zeb.2_Missense_Mutation_p.D735N	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	751					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTGATGTTGTCAGGGCCCAGT	0.577		NaN											0	0	0	0.027356	0	26	62				
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	G	A	rs143171709		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:4722727G>A	uc001qmx.2	+	13	1531	c.1371G>A	c.(1369-1371)ACG>ACA	p.T457T	DYRK4_uc001qmy.1_Silent_p.T456T|DYRK4_uc001qmz.1_Silent_p.T170T|DYRK4_uc001qna.1_Silent_p.T93T|DYRK4_uc010ser.1_Silent_p.T94T	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	457						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473		NaN											0	0	0	0.043863	0	20	66				
ATN1	1822	broad.mit.edu	37	12	7045608	7045608	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:7045608C>G	uc001qrw.1	+	5	1415	c.1178C>G	c.(1177-1179)TCT>TGT	p.S393C	ATN1_uc001qrx.1_Missense_Mutation_p.S393C|ATN1_uc001qry.1_Missense_Mutation_p.S392C	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	393	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						tcttcctcctcttcctctgcc	0.448		NaN											0	0	0	0.099896	0	24	65				
C12orf35	55196	broad.mit.edu	37	12	32138214	32138214	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:32138214G>A	uc001rks.2	+	4	4739	c.4325G>A	c.(4324-4326)AGA>AAA	p.R1442K	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1442										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAATTTAGTAGAATTCTAACT	0.358		NaN											0	0	0	0.059317	0	32	99				
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:44781901G>A	uc001rod.2	+	8	1057	c.991G>A	c.(991-993)GGG>AGG	p.G331R	TMEM117_uc001roe.2_Missense_Mutation_p.G227R|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368		NaN											0	0	0	0.043863	0	19	29				
MLL2	8085	broad.mit.edu	37	12	49424159	49424159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:49424159G>A	uc001rta.3	-	42	13903	c.13903C>T	c.(13903-13905)CAG>TAG	p.Q4635*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4635					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATCTTCTGCTGCACCGATGGG	0.627		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.02938	0	5	12		Valid		
CCDC60	160777	broad.mit.edu	37	12	119942996	119942996	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:119942996G>T	uc001txe.2	+	7	1236	c.771G>T	c.(769-771)GTG>GTT	p.V257V	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	257										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGATCTCTGTGAACCCTGGCT	0.577		NaN											1	0	2.79443e-65	0.048971	3.09928e-65	86	274				
RSRC2	65117	broad.mit.edu	37	12	122992836	122992836	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:122992836C>T	uc001ucr.2	-	8	1110	c.964G>A	c.(964-966)GCT>ACT	p.A322T	RSRC2_uc001uco.2_Missense_Mutation_p.A91T|RSRC2_uc001ucp.2_Missense_Mutation_p.A263T|RSRC2_uc001ucq.2_Missense_Mutation_p.A90T|RSRC2_uc001ucs.2_Missense_Mutation_p.A91T|RSRC2_uc001uct.2_Missense_Mutation_p.A274T|RSRC2_uc001ucu.2_Missense_Mutation_p.A323T	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	322										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGATTAACAGCGGCTGGGTTA	0.448		NaN											0	0	0	0.0918	0	20	97				
DENR	8562	broad.mit.edu	37	12	123253605	123253605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:123253605C>A	uc001uda.2	+	8	713	c.577C>A	c.(577-579)CTT>ATT	p.L193I	DENR_uc010tag.1_Intron|DENR_uc001udb.2_Missense_Mutation_p.L147I	NM_003677	NP_003668	O43583	DENR_HUMAN	density-regulated protein	193							protein binding|translation initiation factor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CATCGAAGATCTTGGAGAAGT	0.318		NaN											1	0	7.34454e-26	0.048971	8.00031e-26	45	133				
FLT1	2321	broad.mit.edu	37	13	28897021	28897021	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:28897021C>T	uc001usb.3	-	21	3144	c.2859G>A	c.(2857-2859)AAG>AAA	p.K953K	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Silent_p.K78K|FLT1_uc001usa.3_Silent_p.K171K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	953	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCTTGGTTTCTTGCCTTGTT	0.493		NaN											0	0	0	0.048971	0	66	151				
NBEA	26960	broad.mit.edu	37	13	35619479	35619479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:35619479C>T	uc001uvb.2	+	5	870	c.664C>T	c.(664-666)CAG>TAG	p.Q222*		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	222						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTCTTAATCAGATGCCACA	0.323		NaN											0	0	0	0.02938	0	7	14				
ENOX1	55068	broad.mit.edu	37	13	43935581	43935581	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:43935581G>A	uc001uza.3	-	6	516	c.216C>T	c.(214-216)ATC>ATT	p.I72I	ENOX1_uc001uzb.3_Silent_p.I72I|ENOX1_uc001uzc.3_Silent_p.I72I|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	72					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTGGGACACAGATTGAGTCTG	0.413		NaN											0	0	0	0.055883	0	20	52				
KPNA3	3839	broad.mit.edu	37	13	50306520	50306520	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:50306520C>G	uc001vdj.2	-	6	785	c.370G>C	c.(370-372)GAA>CAA	p.E124Q		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	124	ARM 2.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TCATCCCTTTCTAGACATTTG	0.308		NaN											0	0	0	0.0918	0	25	64				
NIN	51199	broad.mit.edu	37	14	51226630	51226630	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:51226630C>T	uc001wym.2	-	17	2535	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K	NIN_uc001wyi.2_Missense_Mutation_p.E782K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E782K|NIN_uc010tqp.1_Missense_Mutation_p.E788K|NIN_uc001wyo.2_Missense_Mutation_p.E782K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	782	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTAACTCCTCTTTCTCAAGA	0.507		NaN	T	PDGFRB	MPD								0	0	0	0.048971	0	111	223				
SLC38A6	145389	broad.mit.edu	37	14	61486269	61486269	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:61486269C>A	uc001xfg.1	+	5	490	c.374C>A	c.(373-375)GCA>GAA	p.A125E	SLC38A6_uc001xfh.1_Missense_Mutation_p.A125E|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.A102E	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTGGTGGTGGCAGGCACCATA	0.313		NaN											1	0	2.13384e-23	0.048971	2.31403e-23	44	105				
SMOC1	64093	broad.mit.edu	37	14	70459181	70459181	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:70459181G>A	uc001xls.1	+	6	827	c.574G>A	c.(574-576)GAT>AAT	p.D192N	SMOC1_uc001xlt.1_Missense_Mutation_p.D192N	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	192					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCCGGTGTTCGATGGAGATGG	0.413		NaN											0	0	0	0.080935	0	11	67				
C14orf159	80017	broad.mit.edu	37	14	91681828	91681828	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91681828G>A	uc001xzb.2	+	15	2397	c.1629G>A	c.(1627-1629)CTG>CTA	p.L543L	C14orf159_uc001xyx.2_Silent_p.L491L|C14orf159_uc001xyw.2_Silent_p.L548L|C14orf159_uc001xzc.2_Silent_p.L543L|C14orf159_uc001xza.2_Silent_p.L548L|C14orf159_uc001xyv.2_Silent_p.L508L|C14orf159_uc001xyz.2_Silent_p.L419L|C14orf159_uc001xze.2_Silent_p.L543L	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	543						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTCAGTACCTGAGGAAAGCAG	0.567		NaN											0	0	0	0.048971	0	44	126				
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91700960G>A	uc001xzg.2	-	2	776	c.435C>T	c.(433-435)ATC>ATT	p.I145I	GPR68_uc001xzh.2_Silent_p.I155I	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627		NaN											0	0	0	0.080935	0	12	29				
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:92506013C>T	uc001xzy.2	-	1	805	c.17G>A	c.(16-18)GGG>GAG	p.G6E	TRIP11_uc001xzz.3_RNA	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577		NaN	T	PDGFRB	AML								0	0	0	0.038147	0	6	15				
PLD4	122618	broad.mit.edu	37	14	105397201	105397201	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:105397201G>A	uc001ypu.1	+	7	981	c.840G>A	c.(838-840)CAG>CAA	p.Q280Q	PLD4_uc010tyl.1_Silent_p.Q287Q	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	280					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCTGGCCTCAGAACTTCTCAT	0.567		NaN											0	0	0	0.048971	0	68	156				
BUB1B	701	broad.mit.edu	37	15	40500941	40500941	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:40500941G>A	uc001zkx.3	+	16	2325	c.2113G>A	c.(2113-2115)GAG>AAG	p.E705K		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	705					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAAATTCCTGAGAAACTAGA	0.423		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.020292	0	15	57				
INO80	54617	broad.mit.edu	37	15	41388034	41388034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41388034G>A	uc001zni.2	-	3	449	c.236C>T	c.(235-237)TCA>TTA	p.S79L	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	79	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						ACCAAGCAATGAATTTGGAGG	0.433		NaN											0	0	0	0.099896	0	27	71				
NUSAP1	51203	broad.mit.edu	37	15	41657737	41657737	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41657737G>C	uc001zns.3	+	7	1028	c.798G>C	c.(796-798)CTG>CTC	p.L266L	NUSAP1_uc001znq.3_Silent_p.L71L|NUSAP1_uc001znr.3_Silent_p.L265L|NUSAP1_uc010bce.2_Silent_p.L266L|NUSAP1_uc001znt.3_Silent_p.L251L|NUSAP1_uc001znv.3_Silent_p.L264L|NUSAP1_uc001znu.3_Silent_p.L265L|NUSAP1_uc010ucw.1_Silent_p.L242L|NUSAP1_uc001znw.3_Silent_p.L70L	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	266	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCTTGGGTCTGAAGGGGTCAC	0.502		NaN											0	0	0	0.021553	0	5	26				
LIPC	3990	broad.mit.edu	37	15	58861007	58861007	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:58861007C>G	uc010bga.1	+	11	2089	c.1481C>G	c.(1480-1482)TCA>TGA	p.S494*	LIPC_uc002afa.1_Nonsense_Mutation_p.S494*|LIPC_uc010ugy.1_Nonsense_Mutation_p.S433*	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	494					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTAAAACATCAAAGCGAAAG	0.348		NaN											0	0	0	0.047766	0	8	28				
FAM63B	54629	broad.mit.edu	37	15	59146724	59146724	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:59146724C>G	uc002afj.2	+	9	1983	c.1781C>G	c.(1780-1782)TCT>TGT	p.S594C	FAM63B_uc002afi.2_Missense_Mutation_p.S593C|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	594										central_nervous_system(1)	1						GGAAGACAATCTGGGAATAGT	0.378		NaN											0	0	0	0.069288	0	22	59				
CILP	8483	broad.mit.edu	37	15	65491367	65491367	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:65491367C>G	uc002aon.2	-	9	1438	c.1257G>C	c.(1255-1257)CAG>CAC	p.Q419H		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	419					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGGTGGCATTCTGAAAGCAAT	0.507		NaN											0	0	0	0.037714	0	27	95				
TLE3	7090	broad.mit.edu	37	15	70346924	70346924	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:70346924G>A	uc002asm.2	-	16	2807	c.1688C>T	c.(1687-1689)TCG>TTG	p.S563L	TLE3_uc002ask.2_Missense_Mutation_p.S490L|TLE3_uc002asl.2_Missense_Mutation_p.S563L|TLE3_uc010ukd.1_Missense_Mutation_p.S553L|TLE3_uc010bik.1_Missense_Mutation_p.S144L|TLE3_uc010bil.1_Missense_Mutation_p.S560L|TLE3_uc002asn.2_Missense_Mutation_p.S551L|TLE3_uc002asp.2_Missense_Mutation_p.S555L|TLE3_uc002aso.2_Missense_Mutation_p.S558L	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	563	WD 2.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						GGGCGTGGGCGAGGCCAGGTC	0.652		NaN											0	0	0	0.09319	0	13	30				
CPEB1	64506	broad.mit.edu	37	15	83296112	83296112	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:83296112C>G	uc002bit.2	-	2	339	c.202G>C	c.(202-204)GAA>CAA	p.E68Q	CPEB1_uc002biu.2_Missense_Mutation_p.E35Q|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.E8Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	8					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTTCCTGCTTCTTCTTCCTAG	0.398		NaN											0	0	0	0.058154	0	10	41				
SOLH	6650	broad.mit.edu	37	16	601635	601635	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:601635C>T	uc002chi.2	+	9	2679	c.2316C>T	c.(2314-2316)GTC>GTT	p.V772V	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	772	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				GTGAGGGTGTCTTCTGGATGG	0.672		NaN											0	0	0	0.050027	0	30	55				
PKD1	5310	broad.mit.edu	37	16	2155925	2155925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2155925G>A	uc002cos.1	-	20	8013	c.7804C>T	c.(7804-7806)CAG>TAG	p.Q2602*	PKD1_uc002cot.1_Nonsense_Mutation_p.Q2602*|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2602	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GGATCGGCCTGCCGCAGCAGC	0.657		NaN											0	0	0	0.043863	0	20	51				
SRRM2	23524	broad.mit.edu	37	16	2813979	2813979	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2813979G>A	uc002crk.2	+	11	3999	c.3450G>A	c.(3448-3450)TCG>TCA	p.S1150S	SRRM2_uc002crj.1_Silent_p.S1054S|SRRM2_uc002crl.1_Silent_p.S1150S|SRRM2_uc010bsu.1_Silent_p.S1054S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1150	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CAGTGGACTCGAATTCTCTCT	0.478		NaN											0	0	0	0.064281	0	35	129				
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:3781375G>A	uc002cvv.2	-	30	5194	c.4990C>T	c.(4990-4992)CGC>TGC	p.R1664C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1626C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.021553	0	6	10		Valid		
CCDC135	84229	broad.mit.edu	37	16	57755605	57755605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:57755605C>A	uc002emi.2	+	9	1322	c.1233C>A	c.(1231-1233)TTC>TTA	p.F411L	CCDC135_uc002emj.2_Missense_Mutation_p.F411L|CCDC135_uc002emk.2_Missense_Mutation_p.F346L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	411						cytoplasm				central_nervous_system(1)	1						ATAAGAGCTTCGACATGCCCC	0.532		NaN											1	0	6.38683e-12	0.037714	6.68836e-12	22	63				
CDH3	1001	broad.mit.edu	37	16	68718667	68718667	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:68718667C>T	uc002ewf.2	+	10	2496	c.1364C>T	c.(1363-1365)ACT>ATT	p.T455I	CDH3_uc010vli.1_Missense_Mutation_p.T400I	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	455	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCATCCCCACTGGGGAGCCT	0.552		NaN											0	0	0	0.048971	0	61	214				
KIAA0182	23199	broad.mit.edu	37	16	85689517	85689517	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:85689517C>T	uc002fix.2	+	6	1057	c.983C>T	c.(982-984)GCG>GTG	p.A328V	KIAA0182_uc002fiw.2_Missense_Mutation_p.A224V|KIAA0182_uc002fiy.2_Missense_Mutation_p.A255V	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	328	Potential.						protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GGCCTCAGCGCGGAGAGGTAA	0.657		NaN											0	0	0	0.047766	0	8	26				
KLHDC4	54758	broad.mit.edu	37	16	87743101	87743101	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:87743101C>A	uc002fki.2	-	10	1263	c.1217G>T	c.(1216-1218)GGC>GTC	p.G406V	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G375V|KLHDC4_uc002fkk.2_Missense_Mutation_p.G225V|KLHDC4_uc002fkl.2_Missense_Mutation_p.G349V|KLHDC4_uc010chu.1_Missense_Mutation_p.G225V	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	406										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCCCGCCGAGCCTGGCGCGGT	0.697		NaN											1	0	3.51602e-12	0.049695	3.69788e-12	13	37				
TCF25	22980	broad.mit.edu	37	16	89977011	89977011	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:89977011C>G	uc002fpb.2	+	17	1894	c.1812C>G	c.(1810-1812)ATC>ATG	p.I604M	TCF25_uc002fpc.2_Missense_Mutation_p.Q409E|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	604					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TAAGTCCTATCAGCCATGGAA	0.557		NaN									OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.069288	0	21	90				
SGSM2	9905	broad.mit.edu	37	17	2265472	2265472	+	Silent	SNP	C	C	T	rs113450178		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:2265472C>T	uc002fun.3	+	4	541	c.366C>T	c.(364-366)CTC>CTT	p.L122L	SGSM2_uc002fum.3_Silent_p.L122L|SGSM2_uc010vqw.1_Silent_p.L122L	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	122	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCCGGCCCTCAGCCCTCAGG	0.642		NaN											0	0	0	0.048971	0	109	125				
EIF5A	1984	broad.mit.edu	37	17	7214697	7214697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7214697C>A	uc010vtv.1	+	4	536	c.299C>A	c.(298-300)TCA>TAA	p.S100*	EIF5A_uc002gfr.2_Nonsense_Mutation_p.S130*|EIF5A_uc002gft.2_Nonsense_Mutation_p.S100*|EIF5A_uc002gfu.2_Nonsense_Mutation_p.S100*	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	100					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						GGGTACCTATCACTGCTCCAG	0.562		NaN											1	0	1.66031e-10	0.0918	1.72389e-10	26	136				
DNAH2	146754	broad.mit.edu	37	17	7702000	7702000	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7702000G>A	uc002giu.1	+	54	8537	c.8523G>A	c.(8521-8523)GAG>GAA	p.E2841E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2841	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCAGGCGAGGTGCCCAATC	0.512		NaN											0	0	0	0.048971	0	82	74				
RPL26	6154	broad.mit.edu	37	17	8285553	8285553	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:8285553G>C	uc002glh.1	-	2	172	c.76C>G	c.(76-78)CGA>GGA	p.R26G		NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	26					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						ATCTTCCTTCGAATGTGGGAA	0.418		NaN											0	0	0	0.024245	0	16	89				
MYH1	4619	broad.mit.edu	37	17	10419637	10419637	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10419637T>G	uc002gmo.2	-	4	321	c.227A>C	c.(226-228)CAA>CCA	p.Q76P	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	76	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGGGAAGACTTGGTCATCTTT	0.463		NaN											0	0	0	0.048971	0	56	232				
MYH2	4620	broad.mit.edu	37	17	10442618	10442618	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10442618C>T	uc010coi.2	-	14	1448	c.1320G>A	c.(1318-1320)CTG>CTA	p.L440L	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.L440L|MYH2_uc010coj.2_Silent_p.L440L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	440	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CAACCATCCACAGGAACATCT	0.473		NaN											0	0	0	0.048971	0	47	247				
ZNF207	7756	broad.mit.edu	37	17	30685544	30685544	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:30685544C>G	uc002hhh.3	+	3	339	c.191C>G	c.(190-192)GCC>GGC	p.A64G	ZNF207_uc002hhj.3_Missense_Mutation_p.A64G|ZNF207_uc002hhi.3_Missense_Mutation_p.A64G|ZNF207_uc010csz.2_Missense_Mutation_p.A67G|ZNF207_uc002hhk.1_Missense_Mutation_p.A64G|ZNF207_uc002hhl.1_5'Flank	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	64						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAATAGATGCCGTACCAAAT	0.318		NaN											0	0	0	0.099896	0	24	90				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261650	39261650	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:39261650T>C	uc010wfp.1	+	1	10	c.10T>C	c.(10-12)TCC>CCC	p.S4P		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	4						keratin filament					0						CATGGTCAGCTCCTGTTGTGG	0.592		NaN											0	0	0	0.0333	0	9	28				
EZH1	2145	broad.mit.edu	37	17	40870014	40870014	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:40870014T>C	uc002iaz.2	-	10	1148	c.1003A>G	c.(1003-1005)ACA>GCA	p.T335A	EZH1_uc002iba.2_Missense_Mutation_p.T326A|EZH1_uc010wgt.1_Missense_Mutation_p.T265A|EZH1_uc010wgu.1_Missense_Mutation_p.T341A|EZH1_uc010wgv.1_Missense_Mutation_p.T295A|EZH1_uc010wgw.1_Missense_Mutation_p.T196A|EZH1_uc010cyp.2_Missense_Mutation_p.T236A|EZH1_uc010cyq.2_Missense_Mutation_p.T252A|EZH1_uc010cys.2_Missense_Mutation_p.T286A|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_5'UTR	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	335					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGCAGTCTGTGCCACATGGT	0.408		NaN											0	0	0	0.020292	0	12	57				
PLCD3	113026	broad.mit.edu	37	17	43195396	43195396	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:43195396C>T	uc002iib.2	-	7	1339	c.1225G>A	c.(1225-1227)GAC>AAC	p.D409N		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	409	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	TGGACCACGTCCCGGAAGAGA	0.657		NaN											0	0	0	0.038147	0	8	31				
PDK2	5164	broad.mit.edu	37	17	48174834	48174834	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:48174834G>C	uc002iqc.2	+	2	270	c.166G>C	c.(166-168)GAG>CAG	p.E56Q	PDK2_uc002iqb.2_5'UTR	NM_002611	NP_002602	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase 2 precursor	56					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(3)	3						CCTCAGGCAGGAGCTGCCTGT	0.488		NaN							Autosomal_Dominant_Polycystic_Kidney_Disease				0	0	0	0.086207	0	35	63				
KIF2B	84643	broad.mit.edu	37	17	51901324	51901324	+	Silent	SNP	G	G	A	rs139246128		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:51901324G>A	uc002iua.2	+	1	1086	c.930G>A	c.(928-930)ACG>ACA	p.T310T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	ATP (By similarity).|Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GTGGGAAGACGTACACCATGG	0.547		NaN											0	0	0	0.048971	0	64	70				
OR4D1	26689	broad.mit.edu	37	17	56233157	56233157	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:56233157C>T	uc010wno.1	+	1	643	c.643C>T	c.(643-645)CTG>TTG	p.L215L	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTCCTCCTTCTGATCTCTTA	0.537		NaN											0	0	0	0.048971	0	56	56				
TRIM37	4591	broad.mit.edu	37	17	57148206	57148206	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:57148206G>A	uc002iwy.3	-	9	1231	c.787C>T	c.(787-789)CCT>TCT	p.P263S	TRIM37_uc002iwz.3_Missense_Mutation_p.P263S|TRIM37_uc002ixa.3_Missense_Mutation_p.P141S|TRIM37_uc010woc.1_Missense_Mutation_p.P229S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	263						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGGAACAGGAGTGGTAACA	0.363		NaN							Mulibrey_Nanism				0	0	0	0.083992	0	25	94				
SYNGR2	9144	broad.mit.edu	37	17	76167700	76167700	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76167700C>T	uc002juu.1	+	3	474	c.447C>T	c.(445-447)ATC>ATT	p.I149I	SYNGR2_uc002jut.2_Silent_p.I149I|SYNGR2_uc002juv.1_Intron|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	149	MARVEL.|Helical; (Potential).					integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GGGCAGCCATCACCTTCAGCT	0.612		NaN											0	0	0	0.037714	0	23	51				
BIRC5	332	broad.mit.edu	37	17	76219552	76219552	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76219552G>A	uc002jvg.2	+	4	467	c.346G>A	c.(346-348)GAA>AAA	p.E116K	BIRC5_uc002jvf.2_Missense_Mutation_p.E139K|BIRC5_uc002jvh.2_Silent_p.R76R|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	NM_001168	NP_001159	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	116					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CCAGGCAAAGGAAACCAACAA	0.468		NaN											0	0	0	0.0918	0	25	43				
C18orf10	25941	broad.mit.edu	37	18	34387820	34387820	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34387820C>T	uc002kzw.1	-	3	671	c.243G>A	c.(241-243)GTG>GTA	p.V81V	C18orf10_uc002kzv.1_Silent_p.V81V|C18orf10_uc010xci.1_Silent_p.V81V|C18orf10_uc002kzx.1_Silent_p.V81V|C18orf10_uc002kzy.3_Silent_p.V81V	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	81						cytoplasm|microtubule				skin(1)	1						catccagcttcACACTCCATG	0.204		NaN											0	0	0	0.054565	0	33	66				
CELF4	56853	broad.mit.edu	37	18	34839222	34839222	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34839222C>G	uc002lae.2	-	11	1651	c.1255G>C	c.(1255-1257)GAG>CAG	p.E419Q	CELF4_uc010dnd.1_Missense_Mutation_p.E417Q|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Missense_Mutation_p.E413Q|CELF4_uc002lai.2_Missense_Mutation_p.E403Q	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	419	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TTACAGCCCTCGGGCCCTGCG	0.323		NaN											0	0	0	0.069234	0	9	29				
CREB3L3	84699	broad.mit.edu	37	19	4168351	4168351	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168351G>A	uc002lzl.2	+	6	834	c.718G>A	c.(718-720)GAG>AAG	p.E240K	CREB3L3_uc002lzm.2_Missense_Mutation_p.E230K|CREB3L3_uc010xib.1_Missense_Mutation_p.E229K|CREB3L3_uc010xic.1_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	240	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCAGTACGAGGAGCGAGT	0.408		NaN											0	0	0	0.020292	0	13	43				
CREB3L3	84699	broad.mit.edu	37	19	4168358	4168358	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168358G>A	uc002lzl.2	+	6	841	c.725G>A	c.(724-726)CGA>CAA	p.R242Q	CREB3L3_uc002lzm.2_Missense_Mutation_p.R232Q|CREB3L3_uc010xib.1_Missense_Mutation_p.R231Q|CREB3L3_uc010xic.1_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	242	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGAGGAGCGAGTGCTGAAA	0.413		NaN											0	0	0	0.016723	0	12	46				
SEMA6B	10501	broad.mit.edu	37	19	4550273	4550273	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4550273C>G	uc010duc.1	-	11	1171	c.1133G>C	c.(1132-1134)TGC>TCC	p.C378S	SEMA6B_uc010dud.2_Missense_Mutation_p.C378S|SEMA6B_uc010xih.1_Missense_Mutation_p.C378S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	378	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCTGCGCAGCACCCGGG	0.602		NaN											0	0	0	0.037714	0	27	76				
SH2D3A	10045	broad.mit.edu	37	19	6760801	6760801	+	Silent	SNP	C	C	T	rs143102735		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:6760801C>T	uc002mft.2	-	3	461	c.267G>A	c.(265-267)CCG>CCA	p.P89P	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	89	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						GAACCAGAGCCGGTATGCTGG	0.632		NaN											0	0	0	0.092188	0	32	78				
MUC16	94025	broad.mit.edu	37	19	9057196	9057196	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:9057196G>A	uc002mkp.2	-	3	30454	c.30250C>T	c.(30250-30252)CTG>TTG	p.L10084L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10086	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGGCAGCCAGTATTTCAACT	0.473		NaN											0	0	0	0.09319	0	10	41				
MLL4	9757	broad.mit.edu	37	19	36221009	36221009	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:36221009G>A	uc010eei.2	+	24	5059	c.5059G>A	c.(5059-5061)GAT>AAT	p.D1687N		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1687					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAAACACACTGATCTCCTGGA	0.587		NaN											0	0	0	0.058154	0	8	21		Valid		
ZNF790	388536	broad.mit.edu	37	19	37310567	37310567	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:37310567C>G	uc002oew.2	-	5	798	c.679G>C	c.(679-681)GAA>CAA	p.E227Q	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	227	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATTCATATGTTTTC	0.348		NaN											0	0	0	0.030593	0	27	53				
AP2S1	1175	broad.mit.edu	37	19	47349397	47349397	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:47349397G>A	uc002pft.1	-	2	186	c.6C>T	c.(4-6)ATC>ATT	p.I2I	AP2S1_uc002pfu.1_Silent_p.I2I	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	2					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGATAAAGCGGATCTGGGGGC	0.597		NaN											0	0	0	0.055883	0	18	50				
CRX	1406	broad.mit.edu	37	19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:48343102G>A	uc002phq.3	+	4	982	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	260					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632		NaN											0	0	0	0.048971	0	99	236				
LRRC4B	94030	broad.mit.edu	37	19	51022595	51022595	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:51022595G>A	uc002pss.2	-	3	512	c.375C>T	c.(373-375)ATC>ATT	p.I125I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	125	Extracellular (Potential).|LRR 2.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGCCCACCTCGATCTTGCGCA	0.622		NaN											0	0	0	0.028581	0	16	50				
LILRA6	79168	broad.mit.edu	37	19	54745730	54745730	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:54745730G>A	uc002qeu.1	-	4	504	c.380C>T	c.(379-381)TCA>TTA	p.S127L	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.S127L|LILRA6_uc002qek.1_Missense_Mutation_p.S127L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.S127L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S127L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S127L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S127L|LILRA6_uc010yep.1_Missense_Mutation_p.S127L|LILRA6_uc010yeq.1_Missense_Mutation_p.S127L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	127	Extracellular (Potential).					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCAGGGCTGAGAGGGTGGG	0.562		NaN											0	0	0	0.048971	0	38	91				
ZSCAN5A	79149	broad.mit.edu	37	19	56733572	56733572	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:56733572C>T	uc002qmq.2	-	5	1029	c.863G>A	c.(862-864)AGA>AAA	p.R288K	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.R171K|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.R288K|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R287K	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	288					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						AGCGTCTCCTCTGTTCCCGCT	0.537		NaN											0	0	0	0.048971	0	67	138				
KCNS3	3790	broad.mit.edu	37	2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:18112633C>T	uc002rcv.2	+	3	809	c.358C>T	c.(358-360)CGC>TGC	p.R120C	KCNS3_uc002rcw.2_Missense_Mutation_p.R120C	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	120	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507		NaN											0	0	0	0.092188	0	40	133				
APOB	338	broad.mit.edu	37	2	21239390	21239390	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21239390C>T	uc002red.2	-	21	3381	c.3253G>A	c.(3253-3255)GAG>AAG	p.E1085K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1085					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTTGCCCTCAGTAGATTCA	0.453		NaN											0	0	0	0.069288	0	24	59				
APOB	338	broad.mit.edu	37	2	21250702	21250702	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21250702C>T	uc002red.2	-	14	2193	c.2065G>A	c.(2065-2067)GAG>AAG	p.E689K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	689					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACTTACCTCGATGAGGTCA	0.433		NaN											0	0	0	0.049695	0	18	54				
TP53I3	9540	broad.mit.edu	37	2	24305998	24305998	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:24305998G>A	uc002rey.1	-	3	223	c.163C>T	c.(163-165)CCA>TCA	p.P55S	LOC375190_uc002rew.2_Intron|TP53I3_uc002rex.1_Missense_Mutation_p.P55S|TP53I3_uc002rez.1_Missense_Mutation_p.P55S|TP53I3_uc010ykk.1_Silent_p.L4L	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	55					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCTCCTGGAGGTGGGTCA	0.562		NaN											0	0	0	0.048971	0	60	145				
AFTPH	54812	broad.mit.edu	37	2	64779737	64779737	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:64779737G>C	uc002sdc.2	+	1	1161	c.1129G>C	c.(1129-1131)GAT>CAT	p.D377H	AFTPH_uc002scz.2_Missense_Mutation_p.D377H|AFTPH_uc002sda.2_Missense_Mutation_p.D377H|AFTPH_uc002sdb.2_Missense_Mutation_p.D377H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	377					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						TAAAACTTCTGATGATGAAGT	0.348		NaN											0	0	0	0.037714	0	30	78				
VWA3B	200403	broad.mit.edu	37	2	98737802	98737802	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:98737802C>T	uc002syo.2	+	5	847	c.583C>T	c.(583-585)CCT>TCT	p.P195S	VWA3B_uc010yvh.1_Missense_Mutation_p.P45S|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.P195S|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	195										ovary(3)|large_intestine(2)|skin(1)	6						AAATGCTACTCCTGTGACCGA	0.537		NaN											0	0	0	0.038395	0	15	44				
MERTK	10461	broad.mit.edu	37	2	112766049	112766049	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:112766049C>G	uc002thk.1	+	14	2079	c.1957C>G	c.(1957-1959)CTA>GTA	p.L653V	MERTK_uc002thl.1_Missense_Mutation_p.L477V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	653	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						CATTCGACTTCTAGGTACTTC	0.488		NaN											0	0	0	0.0918	0	25	52				
GALNT5	11227	broad.mit.edu	37	2	158165235	158165235	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158165235G>C	uc002tzg.2	+	9	2932	c.2677G>C	c.(2677-2679)GAA>CAA	p.E893Q	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	893	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						CTTTCATCCAGAACTGGTAAG	0.408		NaN											0	0	0	0.069288	0	22	52				
UPP2	151531	broad.mit.edu	37	2	158980394	158980394	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158980394C>G	uc002tzp.2	+	6	992	c.798C>G	c.(796-798)CTC>CTG	p.L266L	UPP2_uc002tzo.2_Silent_p.L323L	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	266					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TGTGTGGACTCTGTGGTCTAA	0.388		NaN											0	0	0	0.09836	0	36	102				
INPP1	3628	broad.mit.edu	37	2	191227381	191227381	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:191227381G>A	uc002ury.3	+	4	933	c.233G>A	c.(232-234)GGA>GAA	p.G78E	INPP1_uc010fsb.2_Missense_Mutation_p.G78E|INPP1_uc002urx.3_Missense_Mutation_p.G78E	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	78					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	AATATTTTTGGAGAAGAATCC	0.303		NaN											0	0	0	0.030593	0	22	73				
MOGAT1	116255	broad.mit.edu	37	2	223553091	223553091	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:223553091G>T	uc010fws.1	+	2	171	c.123G>T	c.(121-123)ATG>ATT	p.M41I	MOGAT1_uc010fwt.1_Missense_Mutation_p.M1I	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	41	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCACTGTGATGCTGATCATAC	0.473		NaN											1	0	5.9392e-07	0.021553	6.03819e-07	5	12				
SLC16A14	151473	broad.mit.edu	37	2	230902218	230902218	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:230902218C>T	uc002vqd.1	-	5	1774	c.1411G>A	c.(1411-1413)GAT>AAT	p.D471N	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	471	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGAAAAATCATATTTTTGC	0.333		NaN											0	0	0	0.050027	0	32	42				
UGT1A3	54659	broad.mit.edu	37	2	234638460	234638460	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:234638460C>A	uc002vuy.2	+	1	688	c.688C>A	c.(688-690)CCT>ACT	p.P230T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.P230T	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	230					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTTTCTGCTCCTTATGCAAG	0.468		NaN											1	0	2.05912e-35	0.048971	2.26318e-35	86	263				
SH3BP4	23677	broad.mit.edu	37	2	235962412	235962412	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:235962412G>A	uc002vvp.2	+	6	3237	c.2844G>A	c.(2842-2844)CTG>CTA	p.L948L	SH3BP4_uc010fym.2_Silent_p.L930L|SH3BP4_uc002vvq.2_Silent_p.L948L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	948					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGTTCTGAGAGCAGCCG	0.597		NaN											0	0	0	0.048971	0	75	176				
RIN2	54453	broad.mit.edu	37	20	19955572	19955572	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:19955572G>T	uc002wro.1	+	7	939	c.903G>T	c.(901-903)ACG>ACT	p.T301T	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Silent_p.T95T	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	301					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						CGAATGGCACGGAGCGGACTC	0.607		NaN											1	0	9.70103e-10	0.069234	1.00299e-09	9	31				
C20orf186	149954	broad.mit.edu	37	20	31699226	31699226	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:31699226T>C	uc010zue.1	+	16	1843	c.1828T>C	c.(1828-1830)TTG>CTG	p.L610L		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	610						cytoplasm|extracellular region	lipid binding				0						CAAGGACCTTTTGGTGCTGAG	0.587		NaN											0	0	0	0.076483	0	22	47				
RBM12	10137	broad.mit.edu	37	20	34242690	34242690	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:34242690G>T	uc002xdq.2	-	3	787	c.555C>A	c.(553-555)GTC>GTA	p.V185V	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.V185V|RBM12_uc002xds.2_Silent_p.V185V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	185	Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTGGCGGCGGGACTGTGTTCA	0.547		NaN											1	0	1.15088e-07	0.028581	1.17495e-07	14	41				
ADA	100	broad.mit.edu	37	20	43255222	43255222	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:43255222G>A	uc002xmj.2	-	4	365	c.237C>T	c.(235-237)ATC>ATT	p.I79I	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	79					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCTTTTGATAGCCTCCC	0.567		NaN							Adenosine_Deaminase_Deficiency				0	0	0	0.059317	0	29	79				
ZNF335	63925	broad.mit.edu	37	20	44589147	44589147	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:44589147C>G	uc002xqw.2	-	13	1923	c.1800G>C	c.(1798-1800)AAG>AAC	p.K600N	ZNF335_uc010zxk.1_Missense_Mutation_p.K445N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	600	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TGTAGCGCTTCTTAAAGGACT	0.622		NaN											0	0	0	0.048971	0	47	113				
ZNF295	49854	broad.mit.edu	37	21	43413917	43413917	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr21:43413917C>T	uc002zab.3	-	3	502	c.288G>A	c.(286-288)AAG>AAA	p.K96K	ZNF295_uc002yzz.3_Silent_p.K96K|ZNF295_uc002yzy.3_Silent_p.K96K|ZNF295_uc002zaa.3_Silent_p.K96K|ZNF295_uc010gov.1_Silent_p.K96K|ZNF295_uc002zac.2_Silent_p.K96K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	96	Mediates homodimerization.|BTB.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CAAGGCTGCTCTTCTCAACAA	0.398		NaN											0	0	0	0.028581	0	16	38				
RIMBP3	85376	broad.mit.edu	37	22	20457929	20457929	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20457929C>T	uc002zsd.3	-	1	3858	c.3373G>A	c.(3373-3375)GGT>AGT	p.G1125S		NM_015672	NP_056487			RIMS binding protein 3												0	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACAGCATAACCGGTGACCTGG	0.592		NaN											0	0	0	0.02938	0	4	28				
MED15	51586	broad.mit.edu	37	22	20939289	20939289	+	Missense_Mutation	SNP	G	G	A	rs147995933		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20939289G>A	uc002zsp.2	+	15	2031	c.1951G>A	c.(1951-1953)GGC>AGC	p.G651S	MED15_uc002zsq.2_Missense_Mutation_p.G611S|MED15_uc010gso.2_Missense_Mutation_p.G594S|MED15_uc002zsr.2_Missense_Mutation_p.G585S|MED15_uc011ahs.1_Missense_Mutation_p.G585S|MED15_uc002zss.2_Missense_Mutation_p.G530S|MED15_uc011ahu.1_Missense_Mutation_p.G361S|MED15_uc002zst.2_Missense_Mutation_p.G267S|MED15_uc002zsu.2_Missense_Mutation_p.G256S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	651					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCCATTCACGGCCCACCCAT	0.657		NaN											0	0	0	0.036044	0	20	106				
CRYBB1	1414	broad.mit.edu	37	22	27008146	27008146	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:27008146G>T	uc003acy.1	-	3	259	c.189C>A	c.(187-189)GTC>GTA	p.V63V		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	63	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			ovary(1)	1						CCAGTTCGAAGACCACCAGCT	0.532		NaN											1	0	7.87624e-14	0.076483	8.35567e-14	23	93				
MICALL1	85377	broad.mit.edu	37	22	38327931	38327931	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38327931C>T	uc003aui.2	+	10	2091	c.2007C>T	c.(2005-2007)ATC>ATT	p.I669I		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	669						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					TTCCACTCATCAAACGCAAGG	0.642		NaN											0	0	0	0.074837	0	31	65				
MICALL1	85377	broad.mit.edu	37	22	38328839	38328839	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38328839C>T	uc003aui.2	+	12	2262	c.2178C>T	c.(2176-2178)TTC>TTT	p.F726F		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	726						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					TGGACTGGTTCAAGCTCATCC	0.617		NaN											0	0	0	0.09319	0	11	59				
GTSE1	51512	broad.mit.edu	37	22	46722532	46722532	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:46722532C>T	uc011aqy.1	+	9	1917	c.1705C>T	c.(1705-1707)CGC>TGC	p.R569C	GTSE1_uc011aqz.1_Missense_Mutation_p.R416C|GTSE1_uc003bhl.1_Missense_Mutation_p.R194C|GTSE1_uc003bhm.1_Missense_Mutation_p.R194C|GTSE1_uc003bhn.2_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	550					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGAGCCCCGCAAGAACTC	0.562		NaN											0	0	0	0.049695	0	11	62				
LRRN1	57633	broad.mit.edu	37	3	3887565	3887565	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:3887565T>A	uc003bpt.3	+	2	2001	c.1240T>A	c.(1240-1242)TTA>ATA	p.L414I	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	414	LRRCT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAGGAAGTTTTAATCCAGGA	0.488		NaN											0	0	0	0.039052	0	39	93				
ATG7	10533	broad.mit.edu	37	3	11354786	11354786	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:11354786G>C	uc003bwc.2	+	6	537	c.420G>C	c.(418-420)AAG>AAC	p.K140N	ATG7_uc003bwd.2_Missense_Mutation_p.K140N|ATG7_uc011aum.1_Intron	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	140					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						AGGATCTAAAGAAGTACCACT	0.373		NaN											0	0	0	0.028581	0	14	63				
KCNH8	131096	broad.mit.edu	37	3	19492801	19492801	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:19492801A>G	uc003cbk.1	+	10	1925	c.1730A>G	c.(1729-1731)TAT>TGT	p.Y577C	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.Y38C|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	577	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCGGGGGAGTATCTGCTGCGT	0.512		NaN											0	0	0	0.034045	0	30	68				
SGOL1	151648	broad.mit.edu	37	3	20218129	20218129	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:20218129C>T	uc003cbs.2	-	5	626	c.439G>A	c.(439-441)GAA>AAA	p.E147K	SGOL1_uc003cbr.2_Missense_Mutation_p.E147K|SGOL1_uc010hfa.2_Missense_Mutation_p.E147K|SGOL1_uc003cbt.2_Missense_Mutation_p.E147K|SGOL1_uc003cbu.2_Missense_Mutation_p.E147K|SGOL1_uc003cbv.2_Missense_Mutation_p.E147K|SGOL1_uc003cbw.2_Missense_Mutation_p.E147K|SGOL1_uc003cbx.2_Missense_Mutation_p.E147K|SGOL1_uc003cby.2_Missense_Mutation_p.E147K|SGOL1_uc003cbz.2_Missense_Mutation_p.E147K|SGOL1_uc003cca.2_Missense_Mutation_p.E147K|SGOL1_uc003ccb.2_Missense_Mutation_p.E147K|SGOL1_uc003ccc.2_Missense_Mutation_p.E147K	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	147	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CCTGGAAGTTCAGTTTCTTCA	0.254		NaN											0	0	0	0.09319	0	11	46				
GLB1	2720	broad.mit.edu	37	3	33038825	33038825	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:33038825C>A	uc003cfi.1	-	16	1863	c.1746G>T	c.(1744-1746)TGG>TGT	p.W582C	GLB1_uc003cfh.1_Missense_Mutation_p.W552C|GLB1_uc003cfj.1_Missense_Mutation_p.W451C|GLB1_uc011axk.1_Missense_Mutation_p.W630C	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	582					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				AGCCATTAATCCAGACCTGGC	0.597		NaN											1	0	1.56452e-12	0.043863	1.65257e-12	18	40				
MLH1	4292	broad.mit.edu	37	3	37035075	37035075	+	Missense_Mutation	SNP	G	G	A	rs63750081		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:37035075G>A	uc003cgl.2	+	1	97	c.37G>A	c.(37-39)GAG>AAG	p.E13K	MLH1_uc011aye.1_5'Flank|EPM2AIP1_uc003cgk.2_5'Flank|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.E13K|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	13					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						GCGGCTGGACGAGACAGTGGT	0.567		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.030593	0	25	75				
VIPR1	7433	broad.mit.edu	37	3	42576579	42576579	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:42576579G>A	uc003clf.2	+	11	1247	c.1123G>A	c.(1123-1125)GTC>ATC	p.V375I	VIPR1_uc011azl.1_Missense_Mutation_p.V327I|VIPR1_uc011azm.1_Missense_Mutation_p.V165I|VIPR1_uc011azn.1_Missense_Mutation_p.V348I|VIPR1_uc003clg.2_Missense_Mutation_p.V20I	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	375	Helical; Name=7; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTTTGAGCTCGTCGTGGGGTC	0.498		NaN											0	0	0	0.048971	0	64	167				
CELSR3	1951	broad.mit.edu	37	3	48698816	48698817	+	Missense_Mutation	DNP	TC	TC	AT	rs111946927		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48698816_48698817TC>AT	uc003cul.2	-	1	1532_1533	c.1251_1252GA>AT	c.(1249-1254)ACGATG>ACATTG	p.M418L	CELSR3_uc003cuf.1_Missense_Mutation_p.M488L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	418	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGGCCACCATCGTGGTGGCCG	0.658		NaN											0	0	0	0.004672	0	17	56				
C3orf71	646450	broad.mit.edu	37	3	48956327	48956327	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48956327C>T	uc010hkk.1	-	1	492	c.256G>A	c.(256-258)GAC>AAC	p.D86N	ARIH2_uc003cvb.2_5'UTR|ARIH2_uc003cvc.2_5'UTR	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	hypothetical protein LOC646450	86						integral to membrane					0						TGACCGGCGTCGGCCCGCCGC	0.721		NaN											0	0	0	0.02938	0	5	9				
LAMB2	3913	broad.mit.edu	37	3	49166159	49166159	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:49166159C>G	uc003cwe.2	-	14	2124	c.1825G>C	c.(1825-1827)GAG>CAG	p.E609Q	LAMB2_uc003cwf.1_Missense_Mutation_p.E609Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	609	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAGGAACTCCAGGGTCTGA	0.607		NaN											0	0	0	0.048971	0	47	105				
SRPRB	58477	broad.mit.edu	37	3	133534474	133534474	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:133534474G>A	uc003epx.1	+	5	467	c.451G>A	c.(451-453)GAG>AAG	p.E151K		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	151						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						ATTCCAGCGAGAGGTGAAAGA	0.433		NaN											0	0	0	0.048971	0	216	164				
ATR	545	broad.mit.edu	37	3	142231262	142231262	+	Silent	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:142231262T>G	uc003eux.3	-	27	4814	c.4692A>C	c.(4690-4692)ATA>ATC	p.I1564I		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1564					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTTGGGTATTTATGGTATGCT	0.353		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.048971	0	49	166				
SUCNR1	56670	broad.mit.edu	37	3	151599155	151599155	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:151599155C>T	uc003ezf.1	+	3	923	c.824C>T	c.(823-825)TCC>TTC	p.S275F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	275	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTCATCAACTCCTTTTACATT	0.473		NaN											0	0	0	0.048971	0	154	131				
DHX36	170506	broad.mit.edu	37	3	154018909	154018909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:154018909G>C	uc003ezy.3	-	10	1306	c.1225C>G	c.(1225-1227)CCA>GCA	p.P409A	DHX36_uc010hvq.2_Missense_Mutation_p.P409A|DHX36_uc003ezz.3_Missense_Mutation_p.P409A	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	409						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTGTTCTGGAACATACCTA	0.294		NaN											0	0	0	0.064281	0	37	134				
ACTL6A	86	broad.mit.edu	37	3	179291159	179291159	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179291159G>A	uc003fjw.2	+	4	453	c.280G>A	c.(280-282)GAA>AAA	p.E94K	ACTL6A_uc003fjx.2_Missense_Mutation_p.E52K|ACTL6A_uc003fjy.2_Missense_Mutation_p.E52K	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	94					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TATTCTAGTTGAAGACTGGGA	0.343		NaN											0	0	0	0.0918	0	27	120				
USP13	8975	broad.mit.edu	37	3	179460036	179460036	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179460036G>A	uc003fkh.2	+	12	1513	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	USP13_uc003fkf.2_Missense_Mutation_p.E478K	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	478					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTTTGGTGGAAGAACGCAT	0.488		NaN											0	0	0	0.049695	0	17	117				
CRIPAK	285464	broad.mit.edu	37	4	1389009	1389009	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:1389009G>T	uc003gdf.2	+	1	3670	c.710G>T	c.(709-711)GGA>GTA	p.G237V		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	237	6.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCGATGCGGAGTGCCCGCC	0.677		NaN											1	0	5.04308e-16	0.086207	5.37341e-16	24	156				
FAM193A	8603	broad.mit.edu	37	4	2701583	2701583	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:2701583G>C	uc010icl.2	+	17	3162	c.2811G>C	c.(2809-2811)AAG>AAC	p.K937N	FAM193A_uc010ick.2_Missense_Mutation_p.K1137N|FAM193A_uc003gfd.2_Missense_Mutation_p.K937N|FAM193A_uc011bvm.1_Missense_Mutation_p.K959N|FAM193A_uc011bvn.1_Missense_Mutation_p.K937N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.K791N	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	937	Poly-Lys.									ovary(3)	3						AAAAGAAGAAGAAGGAGAGGC	0.383		NaN											0	0	0	0.041601	0	28	74				
BOD1L	259282	broad.mit.edu	37	4	13602850	13602850	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:13602850C>T	uc003gmz.1	-	10	5791	c.5674G>A	c.(5674-5676)GAA>AAA	p.E1892K	BOD1L_uc010idr.1_Missense_Mutation_p.E1229K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1892							DNA binding			ovary(5)|breast(1)	6						CCTTCACTTTCTTCTCCTAAC	0.483		NaN											0	0	0	0.104719	0	41	105				
CC2D2A	57545	broad.mit.edu	37	4	15569099	15569099	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:15569099C>T	uc010idv.2	+	26	3527	c.3282C>T	c.(3280-3282)CTC>CTT	p.L1094L	CC2D2A_uc003gnx.2_Silent_p.L1045L|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1094	C2.				cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ACTACCCCCTCGGCCAGGTGA	0.493		NaN											0	0	0	0.020292	0	14	50				
TLR10	81793	broad.mit.edu	37	4	38777082	38777082	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:38777082C>T	uc003gti.2	-	2	509	c.130G>A	c.(130-132)GCA>ACA	p.A44T	TLR10_uc003gtj.2_Missense_Mutation_p.A44T|TLR10_uc003gtk.2_Missense_Mutation_p.A44T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	44	Extracellular (Potential).|LRR 1.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GTCAAGTCTGCGGGAACCTTT	0.448		NaN											0	0	0	0.049695	0	19	42				
KDR	3791	broad.mit.edu	37	4	55961077	55961077	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961077T>A	uc003has.2	-	21	3165	c.2863A>T	c.(2863-2865)ATC>TTC	p.I955F	KDR_uc003hat.1_Missense_Mutation_p.I955F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	955	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCACAGGGATTGCTCCAACG	0.463		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.076483	0	24	61				
KDR	3791	broad.mit.edu	37	4	55961105	55961105	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961105G>A	uc003has.2	-	21	3137	c.2835C>T	c.(2833-2835)TTC>TTT	p.F945F	KDR_uc003hat.1_Silent_p.F945F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	945	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCTTGACGGAATCGTGCCC	0.433		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.055883	0	20	48				
GRID2	2895	broad.mit.edu	37	4	94693231	94693231	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:94693231A>G	uc011cdt.1	+	16	2864	c.2606A>G	c.(2605-2607)GAC>GGC	p.D869G	GRID2_uc011cdu.1_Missense_Mutation_p.D774G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	869	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCCAGGATGACAAGGAAATT	0.383		NaN											0	0	0	0.049695	0	18	67				
EGF	1950	broad.mit.edu	37	4	110890162	110890162	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:110890162G>C	uc003hzy.3	+	11	2063	c.1611G>C	c.(1609-1611)GAG>GAC	p.E537D	EGF_uc011cfu.1_Missense_Mutation_p.E495D|EGF_uc011cfv.1_Missense_Mutation_p.E537D	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	537	LDL-receptor class B 6.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGTGGATAGAGAGAGCTAATA	0.403		NaN											0	0	0	0.059317	0	28	70				
ANK2	287	broad.mit.edu	37	4	114158306	114158306	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:114158306A>G	uc003ibe.3	+	6	747	c.647A>G	c.(646-648)CAC>CGC	p.H216R	ANK2_uc003ibd.3_Missense_Mutation_p.H195R|ANK2_uc003ibf.3_Missense_Mutation_p.H216R|ANK2_uc003ibc.2_Missense_Mutation_p.H192R|ANK2_uc011cgb.1_Missense_Mutation_p.H231R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	216	ANK 6.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAATGACCACAATGCTGAC	0.483		NaN											0	0	0	0.048971	0	64	155				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:153247289G>C	uc003ims.2	-	10	1662	c.1513C>G	c.(1513-1515)CGC>GGC	p.R505G	FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.020292	0	15	58		Valid		
EGFLAM	133584	broad.mit.edu	37	5	38407204	38407204	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:38407204G>A	uc003jlc.1	+	8	1427	c.1103G>A	c.(1102-1104)CGA>CAA	p.R368Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.R368Q|EGFLAM_uc003jle.1_Missense_Mutation_p.R134Q|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	368	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GGGGGCTCGCGATGCCAGTGC	0.552		NaN											0	0	0	0.062417	0	22	52				
IL6ST	3572	broad.mit.edu	37	5	55247891	55247891	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:55247891C>G	uc003jqq.2	-	13	1820	c.1565G>C	c.(1564-1566)GGA>GCA	p.G522A	IL6ST_uc010iwb.2_Missense_Mutation_p.G461A|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.G233A|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	522	Extracellular (Potential).|Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AACAGTAGGTCCTTTGGAAGG	0.348		NaN	O		hepatocellular ca								0	0	0	0.027356	0	25	49				
VCAN	1462	broad.mit.edu	37	5	82817190	82817190	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:82817190G>A	uc003kii.3	+	7	3421	c.3065G>A	c.(3064-3066)AGA>AAA	p.R1022K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.R1022K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1022	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAACTATGAGAACAACAAAA	0.433		NaN											0	0	0	0.038395	0	18	44				
GPR98	84059	broad.mit.edu	37	5	90106172	90106172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:90106172G>A	uc003kju.2	+	74	15191	c.15095G>A	c.(15094-15096)GGG>GAG	p.G5032E	GPR98_uc003kjt.2_Missense_Mutation_p.G2738E|GPR98_uc003kjw.2_Missense_Mutation_p.G693E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5032	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACTATTTGGGTTCCACAGC	0.403		NaN											0	0	0	0.038147	0	8	18				
RFESD	317671	broad.mit.edu	37	5	94989768	94989768	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:94989768G>A	uc003klf.2	+	3	1395	c.3G>A	c.(1-3)ATG>ATA	p.M1I	RFESD_uc003klg.2_Missense_Mutation_p.M54I|RFESD_uc011cun.1_Missense_Mutation_p.M54I|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	1							2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CAACTAGCATGAATCTTGATG	0.373		NaN											0	0	0	0.024245	0	14	47				
PPIP5K2	23262	broad.mit.edu	37	5	102526629	102526629	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:102526629C>T	uc003kod.3	+	29	3958	c.3439C>T	c.(3439-3441)CTT>TTT	p.L1147F	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.L1126F|PPIP5K2_uc003kof.2_Missense_Mutation_p.L329F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	1147					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						GGATGAATTTCTTGCTTCCAT	0.373		NaN											0	0	0	0.069456	0	33	72				
GRIA1	2890	broad.mit.edu	37	5	153181955	153181955	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:153181955G>A	uc003lva.3	+	15	2790	c.2425G>A	c.(2425-2427)GTG>ATG	p.V809M	GRIA1_uc003luy.3_Missense_Mutation_p.V809M|GRIA1_uc003luz.3_Missense_Mutation_p.V714M|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.V729M|GRIA1_uc011dcx.1_Missense_Mutation_p.V740M|GRIA1_uc011dcy.1_Missense_Mutation_p.V819M|GRIA1_uc011dcz.1_Missense_Mutation_p.V819M	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	809	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTGGCAGGCGTGTTCTACAT	0.413		NaN											0	0	0	0.048971	0	45	101				
MSH5	4439	broad.mit.edu	37	6	31727896	31727896	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31727896C>A	uc003nwv.1	+	19	1794	c.1715C>A	c.(1714-1716)ACC>AAC	p.T572N	MSH5_uc003nwt.1_Missense_Mutation_p.T589N|MSH5_uc003nwu.1_Missense_Mutation_p.T572N|MSH5_uc003nww.1_Missense_Mutation_p.T572N|MSH5_uc003nwx.1_Missense_Mutation_p.T589N|MSH5_uc011dof.1_Missense_Mutation_p.T271N|MSH5_uc003nwy.1_Missense_Mutation_p.T246N|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	572					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						TGTGCCCGAACCTTTGTGCCC	0.532		NaN						Direct_reversal_of_damage|MMR					1	0	9.34078e-37	0.048971	1.03129e-36	78	169				
SLC44A4	80736	broad.mit.edu	37	6	31838641	31838641	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31838641G>A	uc010jti.2	-	10	951	c.885C>T	c.(883-885)TTC>TTT	p.F295F	SLC44A4_uc011dol.1_Silent_p.F219F|SLC44A4_uc011dom.1_Silent_p.F253F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	295	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GGTTGGTGGTGAAACCCAGCT	0.662		NaN											0	0	0	0.036044	0	39	95				
PHIP	55023	broad.mit.edu	37	6	79727268	79727268	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:79727268G>A	uc003pir.2	-	11	1253	c.1027C>T	c.(1027-1029)CAT>TAT	p.H343Y	PHIP_uc011dyp.1_Missense_Mutation_p.H343Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	343	WD 4.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CGAATAATATGATCTGTGCTT	0.323		NaN											0	0	0	0.049695	0	18	39				
C6orf165	154313	broad.mit.edu	37	6	88136336	88136336	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:88136336G>C	uc003plv.2	+	8	1025	c.933G>C	c.(931-933)AAG>AAC	p.K311N	C6orf165_uc003plw.2_Missense_Mutation_p.K123N|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.K311N	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	311										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAAAATCAAAGATAGCGGTCC	0.363		NaN											0	0	0	0.028581	0	15	37				
MDN1	23195	broad.mit.edu	37	6	90468570	90468570	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:90468570G>A	uc003pnn.1	-	18	2686	c.2570C>T	c.(2569-2571)TCT>TTT	p.S857F	MDN1_uc003pno.1_Missense_Mutation_p.S275F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	857					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGGATCCAGAAGATCCTTC	0.473		NaN											0	0	0	0.016723	0	13	40				
ASF1A	25842	broad.mit.edu	37	6	119226948	119226948	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:119226948G>A	uc011ebn.1	+	3	694	c.357G>A	c.(355-357)GAG>GAA	p.E119E		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	119	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		AATATACTGAGACAGAATTAA	0.323		NaN											0	0	0	0.041601	0	33	73				
SYNE1	23345	broad.mit.edu	37	6	152650896	152650896	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:152650896C>G	uc010kiw.2	-	78	15526	c.14924G>C	c.(14923-14925)GGA>GCA	p.G4975A	SYNE1_uc003qot.3_Missense_Mutation_p.G4904A|SYNE1_uc003qou.3_Missense_Mutation_p.G4975A|SYNE1_uc010kiz.2_Missense_Mutation_p.G730A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4975	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGATGTCTCCATCCAGCTC	0.463		NaN								HNSCC(10;0.0054)			0	0	0	0.045515	0	48	134				
TTLL2	83887	broad.mit.edu	37	6	167755005	167755005	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:167755005G>A	uc003qvs.1	+	3	1705	c.1617G>A	c.(1615-1617)CCG>CCA	p.P539P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	539					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGACCTCCCCGTGTGTCCTGT	0.542		NaN											0	0	0	0.086207	0	40	77				
SMOC2	64094	broad.mit.edu	37	6	169064768	169064768	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:169064768G>A	uc003qws.1	+	12	1320	c.1300G>A	c.(1300-1302)GCT>ACT	p.A434T	SMOC2_uc003qwr.1_Missense_Mutation_p.A445T|SMOC2_uc011egu.1_Missense_Mutation_p.A111T	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	434				A -> V (in Ref. 6; AAH47583).	signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAGAGGTCATGCTGAAAGTAC	0.299		NaN											0	0	0	0.0333	0	16	43				
RNF216	54476	broad.mit.edu	37	7	5662766	5662766	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5662766C>G	uc003soy.1	-	17	2516	c.2326G>C	c.(2326-2328)GAG>CAG	p.E776Q	RNF216_uc010ksz.1_Missense_Mutation_p.E398Q|RNF216_uc010kta.1_Missense_Mutation_p.E398Q|RNF216_uc011jwj.1_Missense_Mutation_p.E398Q|RNF216_uc003sox.1_Missense_Mutation_p.E833Q	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	776	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCACCTTCTCCACAGGCTTC	0.577		NaN											0	0	0	0.099896	0	23	66				
RNF216	54476	broad.mit.edu	37	7	5663694	5663694	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663694C>A	uc003soy.1	-	16	2464	c.2274G>T	c.(2272-2274)AAG>AAT	p.K758N	RNF216_uc010ksz.1_Missense_Mutation_p.K380N|RNF216_uc010kta.1_Missense_Mutation_p.K380N|RNF216_uc011jwj.1_Missense_Mutation_p.K380N|RNF216_uc003sox.1_Missense_Mutation_p.K815N	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	758	Potential.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCCATTCTTTCTTTTCT	0.537		NaN											1	0	7.48243e-07	0.058154	7.57557e-07	10	21				
RNF216	54476	broad.mit.edu	37	7	5663714	5663714	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663714C>T	uc003soy.1	-	16	2444	c.2254G>A	c.(2254-2256)GAA>AAA	p.E752K	RNF216_uc010ksz.1_Missense_Mutation_p.E374K|RNF216_uc010kta.1_Missense_Mutation_p.E374K|RNF216_uc011jwj.1_Missense_Mutation_p.E374K|RNF216_uc003sox.1_Missense_Mutation_p.E809K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	752	Potential.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGTTCCTCTTCAGCCTCCTTC	0.547		NaN											0	0	0	0.047766	0	9	21				
HDAC9	9734	broad.mit.edu	37	7	18975511	18975511	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:18975511C>G	uc003suh.2	+	22	2915	c.2874C>G	c.(2872-2874)CTC>CTG	p.L958L	HDAC9_uc003sue.2_Silent_p.L958L|HDAC9_uc003sui.2_Silent_p.L961L|HDAC9_uc003suj.2_Silent_p.L917L|HDAC9_uc003suk.2_Silent_p.L206L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	958	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GACATGATCTCACAGCCATCT	0.433		NaN											0	0	0	0.048971	0	68	143				
CDCA7L	55536	broad.mit.edu	37	7	21945945	21945945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:21945945C>A	uc010kuk.2	-	6	1003	c.883G>T	c.(883-885)GAA>TAA	p.E295*	CDCA7L_uc003sve.3_Nonsense_Mutation_p.E261*|CDCA7L_uc010kul.2_Nonsense_Mutation_p.E249*|CDCA7L_uc003svf.3_Nonsense_Mutation_p.E294*	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	295					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						TAAAACTCTTCCGCAAATTTA	0.483		NaN											1	0	1.14385e-22	0.048971	1.23496e-22	54	145				
MAGI2	9863	broad.mit.edu	37	7	77885323	77885323	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:77885323C>T	uc003ugx.2	-	10	2238	c.1984G>A	c.(1984-1986)GTA>ATA	p.V662I	MAGI2_uc003ugy.2_Missense_Mutation_p.V662I|MAGI2_uc010ldx.1_Missense_Mutation_p.V271I|MAGI2_uc010ldy.1_Missense_Mutation_p.V271I|MAGI2_uc011kgr.1_Missense_Mutation_p.V494I|MAGI2_uc011kgs.1_Missense_Mutation_p.V499I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	662	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATATCCACTACTTCTGTATGG	0.438		NaN											0	0	0	0.080935	0	12	26				
ZKSCAN1	7586	broad.mit.edu	37	7	99621928	99621928	+	Missense_Mutation	SNP	G	G	A	rs148037051		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:99621928G>A	uc003usk.1	+	3	797	c.578G>A	c.(577-579)CGA>CAA	p.R193Q	ZKSCAN1_uc003usj.2_Missense_Mutation_p.R192Q|ZKSCAN1_uc003usl.1_Missense_Mutation_p.R157Q|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	193					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R193Q(1)		ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTACAGTCACGAGGTAAGAAG	0.488		NaN											0	0	0	0.028581	0	14	37				
AGFG2	3268	broad.mit.edu	37	7	100151098	100151098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:100151098C>G	uc003uvf.2	+	4	696	c.560C>G	c.(559-561)TCA>TGA	p.S187*	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.Q49E	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	187					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						CCGTCTCTCTCAGTTGCTGCC	0.542		NaN											0	0	0	0.064281	0	32	102				
GPR37	2861	broad.mit.edu	37	7	124404704	124404704	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:124404704G>T	uc003vli.2	-	1	978	c.327C>A	c.(325-327)CCC>CCA	p.P109P		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	109	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGGTCCCGGGGGTCCGGCTG	0.726		NaN											1	0	1.66031e-10	0.0918	1.72389e-10	24	48				
STRA8	346673	broad.mit.edu	37	7	134927560	134927560	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:134927560C>A	uc011kpx.1	+	3	286	c.286C>A	c.(286-288)CAT>AAT	p.H96N		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	96	Potential.				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						GGCAAAGAGTCATATTCCAGA	0.483		NaN											1	0	2.94398e-08	0.043863	3.03094e-08	20	71				
TBXAS1	6916	broad.mit.edu	37	7	139655334	139655334	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:139655334G>A	uc011kqv.1	+	8	921	c.757G>A	c.(757-759)GAG>AAG	p.E253K	TBXAS1_uc003vvh.2_Missense_Mutation_p.E207K|TBXAS1_uc010lne.2_Missense_Mutation_p.E139K|TBXAS1_uc011kqu.1_Missense_Mutation_p.E158K|TBXAS1_uc003vvi.2_Missense_Mutation_p.E207K|TBXAS1_uc003vvj.2_Missense_Mutation_p.E207K|TBXAS1_uc011kqw.1_Missense_Mutation_p.E187K	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	206	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GCAGGCCCCTGAGGATCCCTT	0.577		NaN											0	0	0	0.048971	0	50	124				
EPHA1	2041	broad.mit.edu	37	7	143096402	143096402	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096402C>T	uc003wcz.2	-	5	1027	c.940G>A	c.(940-942)GAG>AAG	p.E314K		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	314	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGGCCGCTCTCACAGGTACAG	0.657		NaN											0	0	0	0.039052	0	47	87				
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096426C>T	uc003wcz.2	-	5	1003	c.916G>A	c.(916-918)GAG>AAG	p.E306K		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	306	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657		NaN											0	0	0	0.045705	0	32	75				
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:148484186G>A	uc010lpg.2	+	13	1979	c.1453G>A	c.(1453-1455)GAA>AAA	p.E485K	CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.398		NaN											0	0	0	0.069288	0	21	54				
SSPO	23145	broad.mit.edu	37	7	149512401	149512401	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:149512401C>T	uc010lpk.2	+	76	10721	c.10721C>T	c.(10720-10722)TCC>TTC	p.S3574F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3574					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGCTCTCCCAGGACGGG	0.721		NaN											0	0	0	0.021553	0	6	17				
MLL3	58508	broad.mit.edu	37	7	151855998	151855998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:151855998C>A	uc003wla.2	-	44	11839	c.11620G>T	c.(11620-11622)GAG>TAG	p.E3874*	MLL3_uc003wkz.2_Nonsense_Mutation_p.E2935*|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Nonsense_Mutation_p.E1383*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3874					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTGTTTCTCCTCTTCGTCC	0.448		NaN	N		medulloblastoma								1	0	2.43152e-32	0.048971	2.66049e-32	102	276		Valid		
HNF4G	3174	broad.mit.edu	37	8	76465276	76465276	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:76465276G>A	uc003yaq.2	+	6	619	c.349_splice	c.e6-1	p.I117_splice	HNF4G_uc003yar.2_Splice_Site_p.I154_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTAATACTAGATCTCAGTCT	0.348		NaN											0	0	0	0.049695	0	18	67				
VPS13B	157680	broad.mit.edu	37	8	100403871	100403871	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:100403871G>A	uc003yiv.2	+	21	3132	c.3021G>A	c.(3019-3021)AAG>AAA	p.K1007K	VPS13B_uc003yiw.2_Silent_p.K1007K|VPS13B_uc003yiu.1_Silent_p.K1007K|VPS13B_uc003yix.1_Silent_p.K477K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1007					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGGCAAAGCAGCAATCAT	0.388		NaN											0	0	0	0.043863	0	18	103				
TSNARE1	203062	broad.mit.edu	37	8	143436064	143436064	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:143436064G>A	uc003ywk.2	-	2	140	c.22C>T	c.(22-24)CGT>TGT	p.R8C	TSNARE1_uc011lju.1_Missense_Mutation_p.R8C|TSNARE1_uc003ywj.2_Missense_Mutation_p.R8C|TSNARE1_uc003ywl.3_Missense_Mutation_p.R8C	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	8					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACCTCCACGGGCGATGGAT	0.612		NaN											0	0	0	0.0918	0	25	135				
ZNF517	340385	broad.mit.edu	37	8	146033636	146033636	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:146033636C>T	uc003zed.1	+	5	1442	c.1335C>T	c.(1333-1335)CTC>CTT	p.L445L	ZNF517_uc010mgd.1_Silent_p.L351L|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.L351L|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	445	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACTACCGGCTCCACAGCGGCG	0.682		NaN											0	0	0	0.016723	0	11	13				
KIAA1797	54914	broad.mit.edu	37	9	20720513	20720513	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:20720513C>T	uc003zog.1	+	6	630	c.267C>T	c.(265-267)CTC>CTT	p.L89L		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	89						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		ATGGGATACTCAACTTGATTC	0.408		NaN											0	0	0	0.048971	0	92	101				
RGP1	9827	broad.mit.edu	37	9	35752111	35752111	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752111C>T	uc011lpf.1	+	8	1062	c.921C>T	c.(919-921)CTC>CTT	p.L307L	GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.L347L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	307										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAATCCCTCTCAGCTCCACCC	0.567		NaN											0	0	0	0.099896	0	24	16				
RGP1	9827	broad.mit.edu	37	9	35752709	35752709	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752709C>G	uc011lpf.1	+	9	1155	c.1014C>G	c.(1012-1014)CTC>CTG	p.L338L	GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.L378L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	338										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATTGGTACTCCTACCCCCTG	0.498		NaN											0	0	0	0.083992	0	22	20				
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:104170392C>G	uc004bbh.1	+	3	618	c.342C>G	c.(340-342)TTC>TTG	p.F114L	ZNF189_uc004bbg.1_Missense_Mutation_p.F72L|ZNF189_uc004bbi.1_Missense_Mutation_p.F100L|ZNF189_uc011lvk.1_Missense_Mutation_p.F99L	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378		NaN											0	0	0	0.055883	0	22	16				
PHF19	26147	broad.mit.edu	37	9	123620306	123620306	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:123620306C>T	uc004bks.1	-	15	1912	c.1659G>A	c.(1657-1659)GAG>GAA	p.E553E	PHF19_uc011lyf.1_Silent_p.E344E|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CCTGGTACTTCTCCCCACAGG	0.572		NaN											0	0	0	0.048971	0	53	36				
SNAPC4	6621	broad.mit.edu	37	9	139273744	139273744	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:139273744G>C	uc004chh.2	-	21	2544	c.2535C>G	c.(2533-2535)CTC>CTG	p.L845L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	845					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTTTGGGAAGAGGTGGCCTG	0.637		NaN											0	0	0	0.09319	0	13	17				
RBM10	8241	broad.mit.edu	37	X	47041369	47041369	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47041369C>G	uc004dhf.2	+	16	2092	c.1713C>G	c.(1711-1713)ACC>ACG	p.T571T	RBM10_uc004dhg.2_Silent_p.T493T|RBM10_uc004dhh.2_Silent_p.T570T|RBM10_uc010nhq.2_Silent_p.T494T|RBM10_uc004dhi.2_Silent_p.T636T	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	571	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						ACGTCTCTACCTACCAGTACG	0.582		NaN											0	0	0	0.034045	0	30	21				
RBM10	8241	broad.mit.edu	37	X	47045533	47045533	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47045533A>T	uc004dhf.2	+	22	2879	c.2500A>T	c.(2500-2502)AAG>TAG	p.K834*	RBM10_uc004dhg.2_Nonsense_Mutation_p.K756*|RBM10_uc004dhh.2_Nonsense_Mutation_p.K833*|RBM10_uc010nhq.2_Nonsense_Mutation_p.K757*|RBM10_uc004dhi.2_Nonsense_Mutation_p.K899*	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	834					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						GCCAGAGCCCAAGAGGAGGAA	0.607		NaN											0	0	0	0.099896	0	22	18				
FAM123B	139285	broad.mit.edu	37	X	63413139	63413139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:63413139G>A	uc004dvo.2	-	2	301	c.28C>T	c.(28-30)CAG>TAG	p.Q10*		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	10					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CCCTTGGCCTGAGCAGCTTCA	0.527		NaN											0	0	0	0.104719	0	42	36				
ZMYM3	9203	broad.mit.edu	37	X	70470410	70470410	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:70470410C>T	uc004dzh.1	-	5	1032	c.945G>A	c.(943-945)CGG>CGA	p.R315R	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.R315R|ZMYM3_uc004dzj.1_Silent_p.R315R|ZMYM3_uc011mpu.1_Silent_p.R46R|ZMYM3_uc004dzk.3_Silent_p.R315R|ZMYM3_uc004dzl.3_Silent_p.R315R|ZMYM3_uc004dzm.3_Silent_p.R315R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	315					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					GCAGTGGTGTCCGGCAATGTG	0.622		NaN											0	0	0	0.028581	0	14	8				
MAGEE1	57692	broad.mit.edu	37	X	75650837	75650837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:75650837G>C	uc004ecm.1	+	1	2721	c.2514G>C	c.(2512-2514)TTG>TTC	p.L838F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	838	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ACAACTTTTTGATGCAGGTCC	0.502		NaN											0	0	0	0.080935	0	11	14				
EIF2C1	26523	broad.mit.edu	37	1	36379798	36379798	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:36379798C>G	uc001bzl.2	+	14	1969	c.1756C>G	c.(1756-1758)CAA>GAA	p.Q586E	EIF2C1_uc001bzk.2_Missense_Mutation_p.Q511E|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	586	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCCGTTTTTCAACAGCCAGT	0.517		NaN											0	0	0	0.139131	0	122	33				
KIAA0467	23334	broad.mit.edu	37	1	43895747	43895747	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:43895747C>T	uc001cjk.1	+	15	2139	c.1677C>T	c.(1675-1677)TTC>TTT	p.F559F		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1458						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTACTTCTTCTATTGCCCTC	0.537		NaN											0	0	0	0.139131	0	145	52				
CTH	1491	broad.mit.edu	37	1	70897873	70897873	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:70897873C>G	uc001dfd.2	+	8	976	c.832C>G	c.(832-834)CAG>GAG	p.Q278E	CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.Q234E|CTH_uc010oqq.1_Missense_Mutation_p.Q246E	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	278					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGCAGTTGCCCAGTTCCTGGA	0.403		NaN											0	0	0	0.139131	0	67	23				
FPGT	8790	broad.mit.edu	37	1	74671227	74671227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:74671227C>A	uc001dgb.1	+	4	1533	c.1496C>A	c.(1495-1497)TCA>TAA	p.S499*	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Nonsense_Mutation_p.S124*|FPGT_uc010oqu.1_Nonsense_Mutation_p.S245*|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	499					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGTTTCCTGTCATGCTTAGAT	0.378		NaN											1	0	5.2432e-18	0.139131	5.66114e-18	49	57				
SLC35A3	23443	broad.mit.edu	37	1	100459152	100459152	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:100459152C>G	uc001dsp.1	+	2	239	c.42C>G	c.(40-42)GTC>GTG	p.V14V	SLC35A3_uc001dsq.1_Silent_p.V14V|SLC35A3_uc009wdy.1_Silent_p.V14V|SLC35A3_uc001dsr.1_Silent_p.V56V|SLC35A3_uc001dss.1_5'Flank	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	14	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GAATTTTGGTCTTTCAGACTA	0.358		NaN											0	0	0	0.009096	0	4	123				
MAN1A2	10905	broad.mit.edu	37	1	117944812	117944812	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:117944812G>C	uc001ehd.1	+	2	1028	c.307G>C	c.(307-309)GAG>CAG	p.E103Q	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	103	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCACAGGGAAGAGGAAGAACG	0.363		NaN											0	0	0	0.069456	0	32	26				
HRNR	388697	broad.mit.edu	37	1	152188199	152188199	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:152188199G>C	uc001ezt.1	-	3	5982	c.5906C>G	c.(5905-5907)TCT>TGT	p.S1969C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1969	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGCCAGACCCATATGG	0.617		NaN											0	0	0	0.074837	0	39	859				
OR6Y1	391112	broad.mit.edu	37	1	158516978	158516978	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:158516978G>A	uc010pil.1	-	1	918	c.918C>T	c.(916-918)CTC>CTT	p.L306L		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGGTCTTTCTGAGGGCTGCCT	0.438		NaN											0	0	0	0.099896	0	28	83				
DARS2	55157	broad.mit.edu	37	1	173795914	173795914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:173795914C>A	uc001gjh.1	+	2	627	c.217C>A	c.(217-219)CAG>AAG	p.Q73K	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	73					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	TGGATGGATTCAGTACCGAAG	0.423		NaN											1	0	6.27289e-28	0.139131	6.87251e-28	53	43				
FAM5B	57795	broad.mit.edu	37	1	177245564	177245564	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:177245564G>A	uc001glf.2	+	6	1318	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	FAM5B_uc010pna.1_Missense_Mutation_p.E86K|FAM5B_uc001glg.2_Missense_Mutation_p.E231K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	336						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCAGTTTGAAGAGTCAGGTGA	0.388		NaN											0	0	0	0.074837	0	36	37				
CRB1	23418	broad.mit.edu	37	1	197390534	197390534	+	Nonsense_Mutation	SNP	C	C	T	rs114342808	by1000genomes	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:197390534C>T	uc001gtz.2	+	6	1711	c.1576C>T	c.(1576-1578)CGA>TGA	p.R526*	CRB1_uc010poz.1_Nonsense_Mutation_p.R457*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R414*|CRB1_uc010ppb.1_Nonsense_Mutation_p.R526*|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R7*|CRB1_uc001gub.1_Nonsense_Mutation_p.R175*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	526	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTACTTTTCCGAAGCAACAG	0.453		NaN											0	0	0	0.139131	0	55	52				
KLHDC8A	55220	broad.mit.edu	37	1	205306715	205306715	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr1:205306715G>C	uc001hcf.1	-	6	1433	c.865C>G	c.(865-867)CAA>GAA	p.Q289E	KLHDC8A_uc010prg.1_Missense_Mutation_p.Q176E|KLHDC8A_uc001hcg.1_Missense_Mutation_p.Q289E	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	289	Kelch 7.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGTGGGTTGATTCCCTGAA	0.587		NaN											0	0	0	0.125774	0	30	94				
SFMBT2	57713	broad.mit.edu	37	10	7205753	7205753	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:7205753G>C	uc009xio.1	-	21	2755	c.2664C>G	c.(2662-2664)TTC>TTG	p.F888L	SFMBT2_uc001ijn.1_Missense_Mutation_p.F888L|SFMBT2_uc010qay.1_Missense_Mutation_p.F723L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	888					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						ACTGGGCGTAGAAAGCCACTT	0.547		NaN											0	0	0	0.076483	0	23	70				
GAD2	2572	broad.mit.edu	37	10	26581833	26581833	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:26581833T>C	uc001isp.2	+	15	2000	c.1497T>C	c.(1495-1497)CCT>CCC	p.P499P	GAD2_uc001isq.2_Silent_p.P499P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	499					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CTTTGTAGCCTCAGCACACAA	0.448		NaN											0	0	0	0.139131	0	116	281				
ANUBL1	93550	broad.mit.edu	37	10	46121537	46121537	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:46121537G>T	uc001jcp.3	-	7	1976	c.1734C>A	c.(1732-1734)AGC>AGA	p.S578R	ANUBL1_uc001jcl.3_Missense_Mutation_p.S98R|ANUBL1_uc001jcm.3_Missense_Mutation_p.S578R|ANUBL1_uc009xmu.2_Missense_Mutation_p.S504R|ANUBL1_uc001jcn.3_Missense_Mutation_p.S504R|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	578							zinc ion binding				0						ATCTATTTCTGCTTGTGCTCC	0.468		NaN											1	0	0.00909568	0.009096	0.00937894	4	146				
RBP3	5949	broad.mit.edu	37	10	48382225	48382225	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:48382225G>C	uc001jez.2	-	4	3538	c.3424C>G	c.(3424-3426)CTG>GTG	p.L1142V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1142	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CTGCTGGTCAGAATGACCATG	0.592		NaN											0	0	0	0.043863	0	19	32				
PLCE1	51196	broad.mit.edu	37	10	96064271	96064271	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr10:96064271G>A	uc001kjk.2	+	25	6125	c.5491G>A	c.(5491-5493)GAG>AAG	p.E1831K	PLCE1_uc010qnx.1_Missense_Mutation_p.E1815K|PLCE1_uc001kjm.2_Missense_Mutation_p.E1523K|PLCE1_uc001kjp.2_Missense_Mutation_p.E189K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1831	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGCAATGTTTGAGGCAAATGG	0.378		NaN											0	0	0	0.139131	0	72	136				
PKP3	11187	broad.mit.edu	37	11	397293	397293	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:397293C>T	uc001lpc.2	+	3	868	c.792C>T	c.(790-792)GGC>GGT	p.G264G		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	264					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGGGGTAGGCGGGGCAGTGC	0.736		NaN											0	0	0	0.009096	0	4	2				
PGAP2	27315	broad.mit.edu	37	11	3845209	3845209	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:3845209C>T	uc001lys.2	+	4	571	c.445C>T	c.(445-447)CGC>TGC	p.R149C	PGAP2_uc001lyl.2_Missense_Mutation_p.R106C|PGAP2_uc010qxw.1_Missense_Mutation_p.R206C|PGAP2_uc010qxx.1_Missense_Mutation_p.S129L|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Missense_Mutation_p.R145C|PGAP2_uc010qxz.1_Missense_Mutation_p.R145C|PGAP2_uc001lyn.3_Missense_Mutation_p.S41L|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.R88C|PGAP2_uc010qyb.1_Missense_Mutation_p.S91L|PGAP2_uc001lyt.2_5'UTR	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	149					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CTCGGCGCCTCGCTTCTTGGT	0.642		NaN											0	0	0	0.069288	0	22	63				
NLRP14	338323	broad.mit.edu	37	11	7079046	7079046	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:7079046A>C	uc001mfb.1	+	7	2753	c.2430A>C	c.(2428-2430)TTA>TTC	p.L810F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	810					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGAGGCCTTAAGACATCCAA	0.393		NaN											0	0	0	0.099896	0	25	45				
WEE1	7465	broad.mit.edu	37	11	9608064	9608064	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:9608064T>C	uc001mhs.2	+	9	1792	c.1539T>C	c.(1537-1539)GCT>GCC	p.A513A	WEE1_uc001mht.2_Silent_p.A299A	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	513	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CTGCTGGTGCTGAACCTCTTC	0.398		NaN											0	0	0	0.009096	0	3	94				
QSER1	79832	broad.mit.edu	37	11	32956871	32956871	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:32956871C>G	uc001mty.2	+	4	3947	c.3680C>G	c.(3679-3681)TCT>TGT	p.S1227C	QSER1_uc001mtz.1_Missense_Mutation_p.S988C|QSER1_uc001mua.2_Missense_Mutation_p.S732C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1227										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GAACATTTATCTTCATTTTCT	0.363		NaN											0	0	0	0.139131	0	77	132				
OR5M8	219484	broad.mit.edu	37	11	56258184	56258184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56258184G>A	uc001nix.1	-	1	663	c.663C>T	c.(661-663)TTC>TTT	p.F221F		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AAATAGCAGGGAAAATGTAAA	0.408		NaN											0	0	0	0.0333	0	18	46				
OR5M10	390167	broad.mit.edu	37	11	56344512	56344512	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:56344512C>A	uc001niz.1	-	1	686	c.686G>T	c.(685-687)CGT>CTT	p.R229L		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCAGCAGAACGGATCCTGAA	0.443		NaN											1	0	3.07281e-33	0.139131	3.41679e-33	61	49				
PC	5091	broad.mit.edu	37	11	66619974	66619974	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:66619974G>C	uc001ojn.1	-	13	1810	c.1761C>G	c.(1759-1761)CTC>CTG	p.L587L	PC_uc001ojo.1_Silent_p.L587L|PC_uc001ojp.1_Silent_p.L587L|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	587	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGATCTTTTTGAGATCGTGGG	0.612		NaN											0	0	0	0.139131	0	43	109				
SSH3	54961	broad.mit.edu	37	11	67075644	67075644	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:67075644G>T	uc001okj.2	+	9	1064	c.886_splice	c.e9-1	p.I296_splice	SSH3_uc001okk.2_Splice_Site|SSH3_uc001okl.2_Splice_Site_p.I150_splice	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGCCTGCAGATCCGCCAGG	0.647		NaN											1	0	1.15505e-17	0.11126	1.24261e-17	37	103				
RNF121	55298	broad.mit.edu	37	11	71698134	71698134	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:71698134C>T	uc001ora.2	+	5	823	c.483C>T	c.(481-483)CTC>CTT	p.L161L	RNF121_uc001ord.2_Silent_p.L80L|RNF121_uc001orb.2_Silent_p.L129L|RNF121_uc009yst.2_Silent_p.L129L	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	161	Helical; (Potential).					integral to membrane	zinc ion binding				0						TGTTTACCCTCTTTGGTCTTA	0.423		NaN											0	0	0	0.139131	0	56	94				
C11orf30	56946	broad.mit.edu	37	11	76257009	76257009	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:76257009G>C	uc001oxl.2	+	20	3585	c.3442G>C	c.(3442-3444)GAC>CAC	p.D1148H	C11orf30_uc001oxm.2_Missense_Mutation_p.D1050H|C11orf30_uc010rsb.1_Missense_Mutation_p.D1163H|C11orf30_uc010rsc.1_Missense_Mutation_p.D1149H|C11orf30_uc001oxn.2_Missense_Mutation_p.D1149H|C11orf30_uc010rsd.1_Missense_Mutation_p.D1057H|C11orf30_uc010rse.1_Missense_Mutation_p.D395H|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1148					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						AGCAGTGTCTGACATTTTGAA	0.438		NaN											0	0	0	0.083992	0	25	70				
PRSS23	11098	broad.mit.edu	37	11	86518961	86518961	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:86518961C>T	uc001pcb.2	+	2	492	c.276C>T	c.(274-276)GCC>GCT	p.A92A	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Silent_p.A60A	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	92					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCTCTATGCCAATGGCAGCC	0.517		NaN											0	0	0	0.045705	0	17	34				
KDM4D	55693	broad.mit.edu	37	11	94731995	94731995	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:94731995G>A	uc001pfe.2	+	3	2291	c.1459G>A	c.(1459-1461)GAA>AAA	p.E487K		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	487					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCGGGCCCAGAACCTGAGCC	0.622		NaN											0	0	0	0.062417	0	23	53				
DDI1	414301	broad.mit.edu	37	11	103908030	103908030	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:103908030C>G	uc001phr.2	+	1	723	c.480C>G	c.(478-480)CTC>CTG	p.L160L	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	160					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGTCCCTGCTCAAGGAACGCA	0.622		NaN											0	0	0	0.0918	0	22	112				
GUCY1A2	2977	broad.mit.edu	37	11	106558469	106558469	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:106558469C>G	uc001pjg.1	-	8	2395	c.2005G>C	c.(2005-2007)GAA>CAA	p.E669Q	GUCY1A2_uc010rvo.1_Missense_Mutation_p.E690Q|GUCY1A2_uc009yxn.1_Missense_Mutation_p.E700Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	669					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AAACTTTCTTCTCGTTTTAAT	0.408		NaN											0	0	0	0.11126	0	41	57				
ROBO4	54538	broad.mit.edu	37	11	124757704	124757704	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr11:124757704G>A	uc001qbg.2	-	13	2121	c.1981C>T	c.(1981-1983)CGG>TGG	p.R661W	ROBO4_uc010sas.1_Missense_Mutation_p.R516W|ROBO4_uc001qbh.2_Missense_Mutation_p.R551W|ROBO4_uc001qbi.2_Missense_Mutation_p.R219W|ROBO4_uc010sat.1_Missense_Mutation_p.R219W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	661					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGCTGCCCCGGAGCAGTGGG	0.577		NaN											0	0	0	0.045705	0	29	23				
C12orf60	144608	broad.mit.edu	37	12	14976569	14976569	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:14976569A>G	uc001rcj.3	+	2	904	c.700A>G	c.(700-702)ATG>GTG	p.M234V		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	234										ovary(1)|central_nervous_system(1)	2						GACTATGGAAATGAATATTTC	0.358		NaN											0	0	0	0.0918	0	24	36				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:20523043G>A	uc001reh.1	+	1	847	c.825G>A	c.(823-825)CTG>CTA	p.L275L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627		NaN											0	0	0	0.124865	0	44	39				
COL2A1	1280	broad.mit.edu	37	12	48381056	48381056	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48381056G>T	uc001rqu.2	-	20	1443	c.1262C>A	c.(1261-1263)TCT>TAT	p.S421Y	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.S352Y	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	421	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACTCACAGCAGATCCTTTGGC	0.557		NaN											1	0	1.99824e-07	0.0333	2.08938e-07	14	49				
COL2A1	1280	broad.mit.edu	37	12	48390378	48390378	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48390378C>G	uc001rqu.2	-	8	743	c.562G>C	c.(562-564)GAT>CAT	p.D188H	COL2A1_uc001rqv.2_Missense_Mutation_p.D119H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	188					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCTTTTCATCAAATCCTCCA	0.498		NaN											0	0	0	0.139131	0	118	413				
ZNF641	121274	broad.mit.edu	37	12	48739131	48739131	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:48739131G>C	uc001rrn.1	-	4	610	c.445C>G	c.(445-447)CTG>GTG	p.L149V	ZNF641_uc001rro.1_Missense_Mutation_p.L135V|ZNF641_uc010sls.1_Intron	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.L149L(1)		ovary(1)|pancreas(1)	2						TGCTTACTCAGAGAGACTACT	0.502		NaN											0	0	0	0.146539	0	17	85				
MLL2	8085	broad.mit.edu	37	12	49416552	49416552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:49416552G>A	uc001rta.3	-	51	16159	c.16159C>T	c.(16159-16161)CAG>TAG	p.Q5387*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5387					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CGCCGGTACTGAGATGACTTG	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.139131	0	27	25		Valid		
DIP2B	57609	broad.mit.edu	37	12	51065079	51065079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51065079C>T	uc001rwv.2	+	5	694	c.538C>T	c.(538-540)CAG>TAG	p.Q180*	DIP2B_uc001rwu.2_Nonsense_Mutation_p.Q180*|DIP2B_uc009zls.1_Nonsense_Mutation_p.Q62*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	180	Ser-rich.					nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CCGTTCAATTCAGGGATCGTC	0.527		NaN											0	0	0	0.139131	0	82	71				
LETMD1	25875	broad.mit.edu	37	12	51451849	51451849	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:51451849T>C	uc001rxm.2	+	8	1006	c.950T>C	c.(949-951)ATT>ACT	p.I317T	LETMD1_uc001rxl.2_Missense_Mutation_p.I261T|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.I330T|LETMD1_uc001rxn.2_Missense_Mutation_p.I160T|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.I200T|LETMD1_uc001rxq.2_Missense_Mutation_p.I193T|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Missense_Mutation_p.I57T	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	317	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TCTACGCATATTGGTGAAGAT	0.408		NaN											0	0	0	0.049695	0	19	68				
KRT78	196374	broad.mit.edu	37	12	53241751	53241751	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:53241751C>A	uc001sbc.1	-	2	603	c.539G>T	c.(538-540)CGA>CTA	p.R180L		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	180	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						CAGAGCCCCTCGTTCTCCCTG	0.607		NaN											1	0	3.6726e-16	0.0918	3.92271e-16	24	68				
GDF11	10220	broad.mit.edu	37	12	56142751	56142751	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:56142751C>T	uc001shq.2	+	2	864	c.827C>T	c.(826-828)CCG>CTG	p.P276L	GDF11_uc010spv.1_Missense_Mutation_p.P276L	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	276					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCCTGGGGCCGGGAGCCGAG	0.597		NaN											0	0	0	0.021553	0	5	23				
B4GALNT1	2583	broad.mit.edu	37	12	58021630	58021630	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:58021630C>T	uc001spg.1	-	10	1587	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	B4GALNT1_uc010sru.1_Silent_p.A330A	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTCGCGCACCGCGCCCCCCA	0.711		NaN											0	0	0	0.009096	0	3	6				
IL26	55801	broad.mit.edu	37	12	68595841	68595841	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:68595841C>G	uc001stx.1	-	4	421	c.386G>C	c.(385-387)AGA>ACA	p.R129T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	129					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTCATCTCTCTAGCTGATGA	0.239		NaN											0	0	0	0.014758	0	5	13				
RAP1B	5908	broad.mit.edu	37	12	69042512	69042512	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69042512A>G	uc001sub.2	+	2	171	c.8A>G	c.(7-9)GAG>GGG	p.E3G	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E3G|RAP1B_uc010stf.1_Missense_Mutation_p.E3G|RAP1B_uc010stg.1_Missense_Mutation_p.E3G|RAP1B_uc010sth.1_Missense_Mutation_p.E3G|RAP1B_uc010sti.1_Missense_Mutation_p.E3G	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	3					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATCATGCGTGAGTATAAGCTA	0.373		NaN											0	0	0	0.139131	0	520	27				
NUP107	57122	broad.mit.edu	37	12	69109478	69109478	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:69109478C>G	uc001suf.2	+	12	1156	c.1041C>G	c.(1039-1041)CTC>CTG	p.L347L	NUP107_uc001sug.2_Silent_p.L194L|NUP107_uc010stj.1_Silent_p.L318L	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	347					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGATTACTCAAATATCTCT	0.333		NaN											0	0	0	0.0333	0	17	894				
PTPRB	5787	broad.mit.edu	37	12	70932750	70932750	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:70932750G>C	uc001swb.3	-	25	5199	c.5169C>G	c.(5167-5169)CTC>CTG	p.L1723L	PTPRB_uc010sto.1_Silent_p.L1633L|PTPRB_uc010stp.1_Silent_p.L1633L|PTPRB_uc001swc.3_Silent_p.L1941L|PTPRB_uc001swa.3_Silent_p.L1853L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1723	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCCGGCAAGAGTGCAATGT	0.368		NaN											0	0	0	0.09319	0	13	23				
TSPAN8	7103	broad.mit.edu	37	12	71526475	71526475	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:71526475C>G	uc009zrt.1	-	6	736	c.574G>C	c.(574-576)GAG>CAG	p.E192Q	TSPAN8_uc001swk.1_Missense_Mutation_p.E192Q|TSPAN8_uc001swj.1_Missense_Mutation_p.E192Q	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	192	Extracellular (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTCTCACCTCTTTGTAAACT	0.343		NaN											0	0	0	0.054565	0	34	120				
ZFC3H1	196441	broad.mit.edu	37	12	72057372	72057372	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:72057372G>C	uc001swo.2	-	1	378	c.19C>G	c.(19-21)CCG>GCG	p.P7A	ZFC3H1_uc010sts.1_Missense_Mutation_p.P7A|ZFC3H1_uc001swp.2_Missense_Mutation_p.P7A|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	7					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCCGGGGCCGGAGTATCTGCG	0.602		NaN									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	98	96				
C12orf74	338809	broad.mit.edu	37	12	93100450	93100450	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100450G>C	uc001tch.1	+	2	273	c.43G>C	c.(43-45)GAC>CAC	p.D15H	C12orf74_uc001tci.2_Missense_Mutation_p.D15H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	15											0						GCCACCCCAAGACTGTGGAGC	0.557		NaN											0	0	0	0.0333	0	17	55				
C12orf74	338809	broad.mit.edu	37	12	93100519	93100519	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:93100519G>C	uc001tch.1	+	2	342	c.112G>C	c.(112-114)GAC>CAC	p.D38H	C12orf74_uc001tci.2_Missense_Mutation_p.D38H	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	38											0						CCTCCAGTTTGACCGGCAAGC	0.622		NaN											0	0	0	0.116897	0	23	70				
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:109702924G>C	uc001tob.2	+	51	7071	c.6952G>C	c.(6952-6954)GAG>CAG	p.E2318Q	ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2318					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647		NaN											0	0	0	0.134883	0	30	150				
ATP2A2	488	broad.mit.edu	37	12	110720594	110720594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:110720594A>G	uc001tqk.3	+	3	776	c.213A>G	c.(211-213)ATA>ATG	p.I71M	ATP2A2_uc001tql.3_Missense_Mutation_p.I71M|ATP2A2_uc010sxy.1_Missense_Mutation_p.I71M	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	71	Lumenal (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						CAGCATGTATATCTTTTGTAA	0.328		NaN											0	0	0	0.055883	0	19	59				
CCDC63	160762	broad.mit.edu	37	12	111291361	111291361	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111291361G>T	uc001trv.1	+	3	357	c.162G>T	c.(160-162)CAG>CAT	p.Q54H	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.Q14H|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	54	Potential.			RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580).						skin(6)|ovary(1)|pancreas(1)	8						GAAACCAGCAGAAGATTGCGA	0.512		NaN											1	0	7.03913e-09	0.09319	7.41223e-09	12	39				
CUX2	23316	broad.mit.edu	37	12	111655742	111655742	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:111655742G>T	uc001tsa.1	+	3	375	c.222_splice	c.e3+1	p.E74_splice	CUX2_uc001tsb.1_Splice_Site_p.E129_splice	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCAAGCCGAGGTAAGACCCAG	0.562		NaN											1	0	8.81991e-31	0.139131	9.73457e-31	53	66				
NAA25	80018	broad.mit.edu	37	12	112477050	112477050	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112477050C>G	uc001ttm.2	-	22	2652	c.2632G>C	c.(2632-2634)GAA>CAA	p.E878Q	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E850Q|NAA25_uc009zwa.1_Missense_Mutation_p.E856Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	878						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ATGCTGGTTTCTTTTTTCTTC	0.348		NaN											0	0	0	0.146539	0	17	38				
C12orf51	283450	broad.mit.edu	37	12	112694164	112694164	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:112694164C>G	uc009zwc.2	-	14	2009	c.1991G>C	c.(1990-1992)AGA>ACA	p.R664T	C12orf51_uc010syk.1_Missense_Mutation_p.R487T|C12orf51_uc001tts.2_Missense_Mutation_p.R487T|C12orf51_uc001ttt.3_Missense_Mutation_p.R485T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GCTATCAAATCTAAGGTACAG	0.443		NaN											0	0	0	0.134883	0	26	101				
VSIG10	54621	broad.mit.edu	37	12	118517226	118517226	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:118517226C>G	uc001tws.2	-	4	1184	c.850G>C	c.(850-852)GAT>CAT	p.D284H		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	284	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0						TTCTTGCCATCCGACAGCTGG	0.537		NaN											0	0	0	0.080935	0	12	72				
COQ5	84274	broad.mit.edu	37	12	120966898	120966898	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:120966898C>T	uc001tyn.2	-	1	67	c.47G>A	c.(46-48)GGG>GAG	p.G16E	COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Missense_Mutation_p.G16E	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	16					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGACCACCCACGGCCGCA	0.647		NaN											0	0	0	0.116897	0	27	25				
DNAH10	196385	broad.mit.edu	37	12	124298176	124298176	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124298176G>A	uc001uft.3	+	19	3281	c.3256G>A	c.(3256-3258)GAA>AAA	p.E1086K	DNAH10_uc010tav.1_Missense_Mutation_p.E628K|DNAH10_uc010taw.1_Missense_Mutation_p.E571K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1086	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATCTCCATGAAGAGATGGA	0.423		NaN											0	0	0	0.099896	0	26	66				
NCOR2	9612	broad.mit.edu	37	12	124957593	124957593	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:124957593G>A	uc010tba.1	-	4	613	c.496C>T	c.(496-498)CGG>TGG	p.R166W	NCOR2_uc010tay.1_Missense_Mutation_p.R166W|NCOR2_uc010taz.1_Missense_Mutation_p.R166W|NCOR2_uc010tbb.1_Missense_Mutation_p.R166W|NCOR2_uc010tbc.1_Missense_Mutation_p.R166W|NCOR2_uc001ugj.1_Missense_Mutation_p.R166W|NCOR2_uc001ugk.1_Missense_Mutation_p.R166W	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	166					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGGACAGCCGTGGCGGCACC	0.602		NaN											0	0	0	0.0918	0	26	88		Valid		
TMEM132D	121256	broad.mit.edu	37	12	129559559	129559559	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr12:129559559T>G	uc009zyl.1	-	9	2489	c.2161A>C	c.(2161-2163)ACG>CCG	p.T721P	TMEM132D_uc001uia.2_Missense_Mutation_p.T259P	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	721	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCAAGGGCGTGACTGAGCCA	0.473		NaN											0	0	0	0.059317	0	31	100				
PSPC1	55269	broad.mit.edu	37	13	20315736	20315736	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:20315736C>G	uc001uml.2	-	5	1207	c.1021G>C	c.(1021-1023)GAG>CAG	p.E341Q	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	341	Sufficient for perinucleolar caps localization and interaction with NONO.|Potential.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTTGCAACTCTTGGTTTCTG	0.328		NaN											0	0	0	0.108266	0	21	91				
FRY	10129	broad.mit.edu	37	13	32802752	32802752	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:32802752A>T	uc001utx.2	+	40	5862	c.5366A>T	c.(5365-5367)GAT>GTT	p.D1789V	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGAAACAGATGAGAAGGCA	0.512		NaN											0	0	0	0.139131	0	50	68				
LECT1	11061	broad.mit.edu	37	13	53282807	53282807	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:53282807C>T	uc001vhf.2	-	6	764	c.653G>A	c.(652-654)AGA>AAA	p.R218K	LECT1_uc001vhg.2_Missense_Mutation_p.R218K|LECT1_uc001vhh.2_Missense_Mutation_p.R207K	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	218					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AACAATTTTTCTTACCACTTC	0.393		NaN											0	0	0	0.069456	0	33	111				
PCDH9	5101	broad.mit.edu	37	13	67801771	67801771	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:67801771C>G	uc001vik.2	-	2	1494	c.802G>C	c.(802-804)GGT>CGT	p.G268R	PCDH9_uc001vil.2_Missense_Mutation_p.G268R|PCDH9_uc010thl.1_Missense_Mutation_p.G268R|PCDH9_uc001vin.3_Missense_Mutation_p.G268R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	268	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACAGAGGTACCTACGGGAGCA	0.483		NaN											0	0	0	0.139131	0	60	55				
MYH7	4625	broad.mit.edu	37	14	23885425	23885425	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:23885425C>T	uc001wjx.2	-	34	4847	c.4741G>A	c.(4741-4743)GAG>AAG	p.E1581K		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1581	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATCTCCTCGTCCTTCTCT	0.647		NaN											0	0	0	0.139131	0	51	368				
NIN	51199	broad.mit.edu	37	14	51225101	51225101	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:51225101C>G	uc001wym.2	-	18	2838	c.2647G>C	c.(2647-2649)GAG>CAG	p.E883Q	NIN_uc001wyi.2_Missense_Mutation_p.E883Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E889Q|NIN_uc001wyo.2_Missense_Mutation_p.E883Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	883	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTGTTTTCTCTCTCTTAAGA	0.502		NaN	T	PDGFRB	MPD								0	0	0	0.139131	0	94	36				
DHRS7	51635	broad.mit.edu	37	14	60620715	60620715	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:60620715C>T	uc001xes.2	-	3	539	c.355G>A	c.(355-357)GAA>AAA	p.E119K	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.E69K|DHRS7_uc001xeu.2_Missense_Mutation_p.E119K	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	119							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GTAGCCGCTTCATGGGAACCA	0.388		NaN											0	0	0	0.076483	0	20	97				
KCNH5	27133	broad.mit.edu	37	14	63246455	63246455	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:63246455C>G	uc001xfx.2	-	10	2061	c.2010G>C	c.(2008-2010)CTG>CTC	p.L670L	KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Silent_p.L612L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	670	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCGTTTCCTCAGATTGCAAG	0.393		NaN											0	0	0	0.139131	0	93	84				
C14orf4	64207	broad.mit.edu	37	14	77492242	77492242	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:77492242C>G	uc001xsy.2	-	1	2793	c.1894G>C	c.(1894-1896)GAT>CAT	p.D632H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	632						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CCCAGAGTATCTGCCACCGAC	0.632		NaN											0	0	0	0.080935	0	11	31				
SERPINA4	5267	broad.mit.edu	37	14	95033347	95033347	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:95033347C>G	uc001ydk.2	+	3	756	c.690C>G	c.(688-690)CCC>CCG	p.P230P	SERPINA4_uc010avd.2_Silent_p.P267P|SERPINA4_uc001ydl.2_Silent_p.P230P	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	230					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		GGACCACTCCCAAAGACTTCT	0.507		NaN											0	0	0	0.038395	0	19	121				
EVL	51466	broad.mit.edu	37	14	100595958	100595958	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:100595958G>A	uc001ygt.2	+	7	1009	c.770G>A	c.(769-771)CGG>CAG	p.R257Q	EVL_uc001ygv.2_Missense_Mutation_p.R263Q|EVL_uc001ygu.2_Missense_Mutation_p.R259Q|EVL_uc010avu.2_Missense_Mutation_p.R116Q	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	257	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				GATGCCAACCGGGCAAGCAGC	0.587		NaN											0	0	0	0.131918	0	45	22				
OCA2	4948	broad.mit.edu	37	15	28211933	28211933	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:28211933G>A	uc001zbh.3	-	15	1649	c.1539C>T	c.(1537-1539)TTC>TTT	p.F513F	OCA2_uc010ayv.2_Silent_p.F489F	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	513	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAATCCCAATGAACATGTGTG	0.398		NaN							Oculocutaneous_Albinism				0	0	0	0.062417	0	22	19				
TJP1	7082	broad.mit.edu	37	15	30011184	30011184	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:30011184G>A	uc001zcr.2	-	21	3637	c.3162C>T	c.(3160-3162)CTC>CTT	p.L1054L	TJP1_uc010azl.2_Silent_p.L1042L|TJP1_uc001zcq.2_Silent_p.L978L|TJP1_uc001zcs.2_Silent_p.L974L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1054					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGGGCTGCTCGAGGTCTCTGC	0.517		NaN											0	0	0	0.139131	0	124	422				
OTUD7A	161725	broad.mit.edu	37	15	31776455	31776455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:31776455C>T	uc001zfq.2	-	11	1916	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q	OTUD7A_uc001zfr.2_Missense_Mutation_p.R615Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	608						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCGTCGCCCCGCGGCCCACC	0.697		NaN											0	0	0	0.047766	0	8	14				
UNC13C	440279	broad.mit.edu	37	15	54919034	54919034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:54919034G>A	uc002ack.2	+	31	6368	c.6368G>A	c.(6367-6369)GGA>GAA	p.G2123E	UNC13C_uc002acm.2_Missense_Mutation_p.G44E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2123	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCATTCTCGGAAAGGAAAAT	0.284		NaN											0	0	0	0.038147	0	6	17				
SLTM	79811	broad.mit.edu	37	15	59179725	59179725	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:59179725A>T	uc002afp.2	-	18	2478	c.2390T>A	c.(2389-2391)GTT>GAT	p.V797D	SLTM_uc002afn.2_Missense_Mutation_p.V339D|SLTM_uc002afo.2_Missense_Mutation_p.V779D|SLTM_uc002afq.2_Missense_Mutation_p.V366D|SLTM_uc010bgd.2_Missense_Mutation_p.V366D	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	797	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						ACTTTGACCAACAAAGCGATC	0.403		NaN											0	0	0	0.092188	0	41	101				
CLN6	54982	broad.mit.edu	37	15	68504196	68504196	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:68504196G>A	uc002arf.2	-	4	461	c.303C>T	c.(301-303)ATC>ATT	p.I101I	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I133I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	101	Helical; (Potential).				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						GGGACCGCTCGATGAGCTGGG	0.612		NaN											0	0	0	0.055883	0	22	72				
TBC1D21	161514	broad.mit.edu	37	15	74180837	74180837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:74180837G>C	uc002avz.2	+	10	1044	c.961G>C	c.(961-963)GAG>CAG	p.E321Q	TBC1D21_uc010ulc.1_Missense_Mutation_p.E285Q	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	321						intracellular	Rab GTPase activator activity			ovary(2)	2						GGTTTATGCTGAGCTCATCCA	0.383		NaN											0	0	0	0.047766	0	8	52				
ZNF710	374655	broad.mit.edu	37	15	90622959	90622959	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:90622959C>T	uc002bov.1	+	5	2016	c.1893C>T	c.(1891-1893)TTC>TTT	p.F631F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGAGGACTTCGAGGAGAACG	0.582		NaN											0	0	0	0.117977	0	37	130				
FURIN	5045	broad.mit.edu	37	15	91421501	91421501	+	Silent	SNP	C	C	T	rs146865309		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr15:91421501C>T	uc002bpu.1	+	8	1023	c.807C>T	c.(805-807)CTC>CTT	p.L269L		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	269					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGCCCGCCTCGCCGAGGAGG	0.642		NaN											0	0	0	0.038395	0	17	28				
AXIN1	8312	broad.mit.edu	37	16	347183	347183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:347183C>A	uc002cgp.1	-	7	2005	c.1828G>T	c.(1828-1830)GAG>TAG	p.E610*	AXIN1_uc002cgq.1_Nonsense_Mutation_p.E610*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	610	Interaction with RNF111.|Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TTCCCCGACTCAGCCTTCTTG	0.612		NaN											1	0	3.33393e-45	0.139131	3.72101e-45	88	308				
STUB1	10273	broad.mit.edu	37	16	731323	731323	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:731323G>C	uc002cit.2	+	2	742	c.331G>C	c.(331-333)GAT>CAT	p.D111H	STUB1_uc002ciu.2_Missense_Mutation_p.D39H|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	111	TPR 3.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GGAGAGCTATGATGAGGCCAT	0.667		NaN											0	0	0	0.038395	0	18	44				
STUB1	10273	broad.mit.edu	37	16	732373	732373	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:732373C>T	uc002cit.2	+	7	1207	c.796C>T	c.(796-798)CAT>TAT	p.H266Y	STUB1_uc002ciu.2_Missense_Mutation_p.H194Y|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	266	U-box.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GCGTGTGGGTCATTTTGACCC	0.612		NaN											0	0	0	0.139131	0	64	73				
XYLT1	64131	broad.mit.edu	37	16	17353054	17353054	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:17353054C>G	uc002dfa.2	-	3	789	c.704G>C	c.(703-705)AGA>ACA	p.R235T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	235	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						ATGAGGCGGTCTGGACACATC	0.612		NaN											0	0	0	0.139131	0	47	187				
TNRC6A	27327	broad.mit.edu	37	16	24815594	24815594	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24815594A>G	uc002dmm.2	+	12	3905	c.3791A>G	c.(3790-3792)CAG>CGG	p.Q1264R	TNRC6A_uc010bxs.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q1011R|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q952R|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1264	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TCTCGGCCTCAGATTTCCAAA	0.393		NaN											0	0	0	0.09836	0	40	42				
ARHGAP17	55114	broad.mit.edu	37	16	24988548	24988548	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:24988548G>A	uc002dnb.2	-	3	279	c.186C>T	c.(184-186)GCC>GCT	p.A62A	ARHGAP17_uc002dnc.2_Silent_p.A62A|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.A62A	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	62	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCCTCTCGGCATCGGTGC	0.547		NaN											0	0	0	0.058154	0	10	53				
XPO6	23214	broad.mit.edu	37	16	28137114	28137114	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:28137114C>G	uc002dpa.1	-	13	2163	c.1662G>C	c.(1660-1662)CTG>CTC	p.L554L	XPO6_uc002dpb.1_Silent_p.L540L|XPO6_uc010vcp.1_Silent_p.L554L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	554					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCAAGTCTCTCAGGGAGCAGT	0.592		NaN											0	0	0	0.139131	0	46	118				
TEPP	374739	broad.mit.edu	37	16	58019836	58019836	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:58019836C>A	uc002emw.3	+	7	813	c.776C>A	c.(775-777)TCC>TAC	p.S259Y	TEPP_uc002emv.3_Missense_Mutation_p.S286Y	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	259						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						AGCTTCGGCTCCAGCTACAGG	0.652		NaN											1	0	3.27435e-08	0.11911	3.43576e-08	11	33				
ACD	65057	broad.mit.edu	37	16	67691914	67691914	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:67691914C>T	uc002etq.3	-	10	1776	c.1439G>A	c.(1438-1440)GGA>GAA	p.G480E	ACD_uc002etp.3_Missense_Mutation_p.G477E|ACD_uc002etr.3_Missense_Mutation_p.G477E|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	480					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCCTGGGCTCCCCTGGTAGC	0.607		NaN											0	0	0	0.108266	0	25	85				
CIRH1A	84916	broad.mit.edu	37	16	69199280	69199280	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr16:69199280G>C	uc002ews.3	+	15	1780	c.1684G>C	c.(1684-1686)GAT>CAT	p.D562H	CIRH1A_uc002ewr.2_Missense_Mutation_p.D562H|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479H|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	562	WD 11.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACAGTATACAGATTGGAGCCG	0.488		NaN											0	0	0	0.069234	0	11	52				
SPAG7	9552	broad.mit.edu	37	17	4863785	4863785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:4863785G>A	uc002gae.2	-	3	244	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	SPAG7_uc002gad.2_Nonsense_Mutation_p.Q20*|SPAG7_uc002gaf.2_Nonsense_Mutation_p.Q71*	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	71	R3H.					nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						TTCATTGGCTGAAACTTTTTC	0.532		NaN											0	0	0	0.139131	0	59	67				
USP43	124739	broad.mit.edu	37	17	9559744	9559744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:9559744C>T	uc010cod.2	+	2	529	c.529C>T	c.(529-531)CAG>TAG	p.Q177*	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Nonsense_Mutation_p.Q177*|USP43_uc010coe.2_Silent_p.L8L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	177					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTACGGCTCTCAGTTCCAAGG	0.522		NaN											0	0	0	0.115264	0	3	15				
MYH1	4619	broad.mit.edu	37	17	10400658	10400658	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400658C>G	uc002gmo.2	-	32	4571	c.4477G>C	c.(4477-4479)GAG>CAG	p.E1493Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1493	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AAAGATTCCTCATAAGCATTC	0.343		NaN											0	0	0	0.062417	0	19	64				
MYH1	4619	broad.mit.edu	37	17	10400727	10400727	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:10400727C>G	uc002gmo.2	-	32	4502	c.4408G>C	c.(4408-4410)GAA>CAA	p.E1470Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1470	Potential.			E -> V (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCTTCAAGTTCAGCATGAGTT	0.378		NaN											0	0	0	0.080935	0	10	48				
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:27254016C>G	uc002hdg.1	-	3	844	c.314G>C	c.(313-315)CGC>CCC	p.R105P	PHF12_uc010wbb.1_Missense_Mutation_p.R87P|PHF12_uc002hdi.1_Missense_Mutation_p.R101P|PHF12_uc002hdj.1_Missense_Mutation_p.R105P|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101P|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	105	PHD-type 1.|Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493		NaN											0	0	0	0.038147	0	8	77				
WNK4	65266	broad.mit.edu	37	17	40936120	40936120	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:40936120C>T	uc002ibj.2	+	3	978	c.957C>T	c.(955-957)ATC>ATT	p.I319I	WNK4_uc010wgx.1_Missense_Mutation_p.S13L|WNK4_uc002ibk.1_Silent_p.I91I|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	319	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGTCAAAATCGGGGACCTGG	0.597		NaN											0	0	0	0.139131	0	64	202				
CA10	56934	broad.mit.edu	37	17	49713340	49713340	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:49713340A>G	uc002itw.3	-	7	1651	c.665T>C	c.(664-666)ATA>ACA	p.I222T	CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	222					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAGTTCCTCTATATTAAGCCC	0.368		NaN											0	0	0	0.045705	0	29	82				
HELZ	9931	broad.mit.edu	37	17	65119237	65119237	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65119237C>G	uc010wqk.1	-	26	3669	c.3482G>C	c.(3481-3483)AGA>ACA	p.R1161T	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1160T	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTATATGCTCTAATAGGATT	0.408		NaN											0	0	0	0.038395	0	18	45				
PSMD12	5718	broad.mit.edu	37	17	65340841	65340841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:65340841C>A	uc002jfy.2	-	9	1050	c.964G>T	c.(964-966)GAG>TAG	p.E322*	PSMD12_uc002jga.2_Nonsense_Mutation_p.E302*|PSMD12_uc002jfz.2_Nonsense_Mutation_p.E263*	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	322	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CCATAGTCCTCAACAAGTGTG	0.363		NaN											1	0	4.7546e-09	0.146539	5.02437e-09	13	61				
ABCA8	10351	broad.mit.edu	37	17	66933153	66933153	+	Silent	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:66933153A>G	uc002jhp.2	-	4	584	c.405T>C	c.(403-405)TAT>TAC	p.Y135Y	ABCA8_uc002jhq.2_Silent_p.Y135Y|ABCA8_uc010wqq.1_Silent_p.Y135Y|ABCA8_uc010wqr.1_Silent_p.Y74Y|ABCA8_uc002jhr.2_Silent_p.Y135Y|ABCA8_uc002jhs.2_Silent_p.Y135Y|ABCA8_uc002jht.2_Silent_p.Y135Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	135						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACTTCAAATGATATGAGTATG	0.368		NaN											0	0	0	0.0918	0	25	55				
COG1	9382	broad.mit.edu	37	17	71197988	71197988	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr17:71197988C>T	uc002jjg.2	+	7	2058	c.2022C>T	c.(2020-2022)CTC>CTT	p.L674L	COG1_uc002jjh.2_Silent_p.L674L|COG1_uc002jjf.1_Silent_p.L674L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	674					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGAAGTACTCCTCCAGCAGA	0.463		NaN											0	0	0	0.0333	0	16	53				
DSG2	1829	broad.mit.edu	37	18	29101087	29101087	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:29101087G>A	uc002kwu.3	+	5	592	c.404G>A	c.(403-405)AGA>AAA	p.R135K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	135	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGGATGCAAGAGGAAACAAT	0.343		NaN											0	0	0	0.076483	0	23	67				
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:42530401G>A	uc010dni.2	+	4	1392	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	366						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453		NaN							Schinzel-Giedion_syndrome				0	0	0	0.055883	0	20	54				
MALT1	10892	broad.mit.edu	37	18	56390314	56390314	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr18:56390314G>T	uc002lhm.1	+	10	1311	c.1053G>T	c.(1051-1053)ATG>ATT	p.M351I	MALT1_uc002lhn.1_Missense_Mutation_p.M340I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	351	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TAGGAAATATGAATTACCGGG	0.398		NaN	T	BIRC3	MALT								1	0	3.62473e-10	0.062417	3.84402e-10	19	63				
MUM1	84939	broad.mit.edu	37	19	1357029	1357029	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:1357029T>G	uc010xgm.1	+	2	148	c.79T>G	c.(79-81)TCA>GCA	p.S27A	MUM1_uc010dsi.2_5'UTR|MUM1_uc002lrz.2_Missense_Mutation_p.S28A|MUM1_uc002lsb.2_5'UTR|MUM1_uc002lsc.1_5'Flank			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	27					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCGCGACTTCAACAAAAAA	0.358		NaN											0	0	0	0.062417	0	21	44				
AP3D1	8943	broad.mit.edu	37	19	2130435	2130435	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2130435C>T	uc002luz.2	-	6	787	c.564G>A	c.(562-564)CTG>CTA	p.L188L	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Silent_p.L188L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	188	HEAT 4.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCCTTCAGCCGGGGAA	0.602		NaN											0	0	0	0.144211	0	32	75				
DOT1L	84444	broad.mit.edu	37	19	2216303	2216303	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216303G>A	uc002lvb.3	+	20	1983	c.1947G>A	c.(1945-1947)AAG>AAA	p.K649K	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	649						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTAGAGAAGAGCCAGCGGC	0.662		NaN											0	0	0	0.064281	0	32	69				
DOT1L	84444	broad.mit.edu	37	19	2216319	2216319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2216319G>T	uc002lvb.3	+	20	1999	c.1963G>T	c.(1963-1965)GAG>TAG	p.E655*	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	655						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCAGGAGCTCCTGCA	0.672		NaN											1	0	1.64293e-13	0.083992	1.74855e-13	23	52		Valid		
JSRP1	126306	broad.mit.edu	37	19	2254207	2254207	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:2254207C>G	uc002lvi.1	-	3	276	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	JSRP1_uc002lvj.1_Missense_Mutation_p.E81Q	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	81						sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGCCTCTCCTTCCCCGTT	0.637		NaN									OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	63	167				
DPP9	91039	broad.mit.edu	37	19	4690967	4690967	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:4690967C>G	uc002mba.2	-	14	1777	c.1519G>C	c.(1519-1521)GAA>CAA	p.E507Q		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	478					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CACTTAAATTCATCTGGAAAG	0.562		NaN											0	0	0	0.009096	0	4	13				
SAFB2	9667	broad.mit.edu	37	19	5591776	5591776	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:5591776C>G	uc002mcd.2	-	17	2589	c.2377G>C	c.(2377-2379)GAC>CAC	p.D793H		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	793	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCCGGTGGTCTCCCATCATT	0.592		NaN											0	0	0	0.105934	0	11	46				
MYO1F	4542	broad.mit.edu	37	19	8587680	8587680	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8587680C>G	uc002mkg.2	-	26	3002	c.2888G>C	c.(2887-2889)AGA>ACA	p.R963T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	963				VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GGGGCCCCCTCTGGCAGAGGG	0.652		NaN											0	0	0	0.009096	0	4	8				
ADAMTS10	81794	broad.mit.edu	37	19	8670203	8670203	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:8670203G>T	uc002mkj.1	-	4	403	c.129C>A	c.(127-129)TTC>TTA	p.F43L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	43					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CGCGGGTGGGGAAGGCGATCT	0.677		NaN											1	0	0.000442599	0.058154	0.000457967	10	13				
TNPO2	30000	broad.mit.edu	37	19	12826060	12826060	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:12826060G>A	uc002muo.2	-	7	830	c.645C>T	c.(643-645)ATC>ATT	p.I215I	TNPO2_uc002mup.2_Silent_p.I307I|TNPO2_uc002muq.2_Silent_p.I215I|TNPO2_uc002mur.2_Silent_p.I215I	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	215	HEAT 3.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGCCCACCTCGATGAAGGTGT	0.642		NaN											0	0	0	0.02938	0	7	18				
ZNF569	148266	broad.mit.edu	37	19	37917250	37917250	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:37917250C>T	uc002ogi.2	-	4	604	c.46G>A	c.(46-48)GAC>AAC	p.D16N	ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Missense_Mutation_p.D40N	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTGAAGTCGATAGCCACA	0.398		NaN											0	0	0	0.139131	0	59	110				
PRX	57716	broad.mit.edu	37	19	40900472	40900472	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40900472C>G	uc002onr.2	-	7	4056	c.3787G>C	c.(3787-3789)GAG>CAG	p.E1263Q	PRX_uc002onq.2_Missense_Mutation_p.E1124Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1263					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGCTGCTCCTCAGCACCC	0.706		NaN											0	0	0	0.058154	0	10	24				
PRX	57716	broad.mit.edu	37	19	40901150	40901150	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901150C>G	uc002onr.2	-	7	3378	c.3109G>C	c.(3109-3111)GAA>CAA	p.E1037Q	PRX_uc002onq.2_Missense_Mutation_p.E898Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1037					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGTTCTGCTGCCTCA	0.627		NaN											0	0	0	0.069288	0	22	140				
PRX	57716	broad.mit.edu	37	19	40901173	40901173	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901173C>G	uc002onr.2	-	7	3355	c.3086G>C	c.(3085-3087)AGA>ACA	p.R1029T	PRX_uc002onq.2_Missense_Mutation_p.R890T|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1029					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTCCCGGCCTCTGACCCCAAA	0.637		NaN											0	0	0	0.134883	0	26	152				
PRX	57716	broad.mit.edu	37	19	40901264	40901264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901264C>G	uc002onr.2	-	7	3264	c.2995G>C	c.(2995-2997)GAT>CAT	p.D999H	PRX_uc002onq.2_Missense_Mutation_p.D860H|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	999					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGGGCATCCAGGCTGAGC	0.667		NaN											0	0	0	0.144211	0	29	139				
PRX	57716	broad.mit.edu	37	19	40901420	40901420	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901420C>T	uc002onr.2	-	7	3108	c.2839G>A	c.(2839-2841)GAG>AAG	p.E947K	PRX_uc002onq.2_Missense_Mutation_p.E808K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	947					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTCAGCCTCTGCCTTAGCC	0.577		NaN											0	0	0	0.139131	0	51	239				
PRX	57716	broad.mit.edu	37	19	40901603	40901603	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:40901603C>G	uc002onr.2	-	7	2925	c.2656G>C	c.(2656-2658)GAG>CAG	p.E886Q	PRX_uc002onq.2_Missense_Mutation_p.E747Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	886					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCCACCTCAGGGCCCTCC	0.637		NaN											0	0	0	0.050027	0	13	114				
CEACAM21	90273	broad.mit.edu	37	19	42082676	42082676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:42082676G>A	uc002ore.3	+	1	146	c.50G>A	c.(49-51)GGG>GAG	p.G17E	CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.G17E	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion	17						integral to membrane				ovary(1)	1						CCCTGGCAGGGGCTCTTGCTC	0.652		NaN											0	0	0	0.047766	0	9	55				
ALDH16A1	126133	broad.mit.edu	37	19	49971800	49971800	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:49971800C>T	uc002pnt.2	+	15	2217	c.2101C>T	c.(2101-2103)CTG>TTG	p.L701L	ALDH16A1_uc010yar.1_Silent_p.L650L|ALDH16A1_uc010yas.1_Silent_p.L536L|ALDH16A1_uc010yat.1_Silent_p.L538L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	701							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGCCTGTCCTCTGCTGGCCCT	0.667		NaN											0	0	0	0.11911	0	14	274				
KLK14	43847	broad.mit.edu	37	19	51582812	51582812	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:51582812G>A	uc002pvs.1	-	5	627	c.408C>T	c.(406-408)CCC>CCT	p.P136P		NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	kallikrein 14 preproprotein	136	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			skin(1)	1		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CGATCCGTGCGGGCTGCTGTA	0.657		NaN											0	0	0	0.069234	0	8	48				
ZNF677	342926	broad.mit.edu	37	19	53741588	53741588	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:53741588C>T	uc002qbf.1	-	5	577	c.392G>A	c.(391-393)AGA>AAA	p.R131K	ZNF677_uc002qbg.1_Missense_Mutation_p.R131K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358		NaN											0	0	0	0.117977	0	43	115				
PRKCG	5582	broad.mit.edu	37	19	54403944	54403944	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54403944G>A	uc002qcq.1	+	14	1798	c.1516G>A	c.(1516-1518)GTC>ATC	p.V506I	PRKCG_uc010yeg.1_Missense_Mutation_p.V506I|PRKCG_uc010yeh.1_Missense_Mutation_p.V393I	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	506	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TAAGGAGAACGTCTTCCCCGG	0.587		NaN											0	0	0	0.139131	0	435	273				
CNOT3	4849	broad.mit.edu	37	19	54656169	54656169	+	Silent	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:54656169C>A	uc002qdj.1	+	15	2021	c.1710C>A	c.(1708-1710)ATC>ATA	p.I570I	CNOT3_uc010yel.1_Silent_p.I570I|CNOT3_uc002qdi.2_Silent_p.I483I|CNOT3_uc002qdk.1_Silent_p.I570I|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.I25I	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	570	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACAGACATCATCCTGAGCA	0.667		NaN											1	0	5.99346e-17	0.139131	6.42464e-17	54	305				
ZNF671	79891	broad.mit.edu	37	19	58232870	58232870	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr19:58232870C>T	uc002qpz.3	-	4	683	c.584G>A	c.(583-585)GGG>GAG	p.G195E	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.G118E|ZNF671_uc010yhf.1_Missense_Mutation_p.G97E	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	195	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCACATGCCCCACACAAGTA	0.488		NaN											0	0	0	0.139131	0	57	209				
SNTG2	54221	broad.mit.edu	37	2	1241711	1241711	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1241711C>T	uc002qwq.2	+	10	899	c.771C>T	c.(769-771)CTC>CTT	p.L257L	SNTG2_uc010ewi.2_Silent_p.L130L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	257					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGGGATCCTCCGGTTTTACA	0.642		NaN											0	0	0	0.02938	0	6	8				
TPO	7173	broad.mit.edu	37	2	1520688	1520688	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:1520688C>T	uc002qww.2	+	15	2643	c.2552C>T	c.(2551-2553)TCC>TTC	p.S851F	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.S794F|TPO_uc002qwr.2_Missense_Mutation_p.S851F|TPO_uc002qwx.2_Missense_Mutation_p.S794F|TPO_uc010yio.1_Missense_Mutation_p.S678F|TPO_uc010yip.1_Missense_Mutation_p.S807F|TPO_uc002qwy.1_Missense_Mutation_p.S147F|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	851	Helical; (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGGATCTCCATGTCGCTG	0.572		NaN											0	0	0	0.074837	0	35	73				
TRIM54	57159	broad.mit.edu	37	2	27505677	27505677	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:27505677C>T	uc002rjo.2	+	1	78	c.78C>T	c.(76-78)TGC>TGT	p.C26C	TRIM54_uc002rjn.2_Silent_p.C26C	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	26	RING-type.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCATCTGCCCCATCTGCC	0.587		NaN											0	0	0	0.139131	0	72	360				
PSME4	23198	broad.mit.edu	37	2	54159084	54159084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:54159084G>A	uc002rxp.2	-	10	1260	c.1204C>T	c.(1204-1206)CAG>TAG	p.Q402*	PSME4_uc010yop.1_Nonsense_Mutation_p.Q288*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	402					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGGACAGGCTGAATAATGCAT	0.453		NaN											0	0	0	0.117977	0	44	57				
REG3G	130120	broad.mit.edu	37	2	79254983	79254983	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:79254983G>A	uc002snw.2	+	5	469	c.384G>A	c.(382-384)ATG>ATA	p.M128I	REG3G_uc002snx.2_Missense_Mutation_p.M128I|REG3G_uc010ffu.2_Missense_Mutation_p.M82I	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	128	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						CTGATGTGATGAATTACTTTG	0.502		NaN											0	0	0	0.117977	0	45	174				
FER1L5	90342	broad.mit.edu	37	2	97361264	97361264	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:97361264C>T	uc010fia.2	+	34	3841	c.3841C>T	c.(3841-3843)CGG>TGG	p.R1281W	FER1L5_uc002sws.3_5'UTR|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_5'UTR|FER1L5_uc010yus.1_5'UTR	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1281						integral to membrane				ovary(1)	1						CTGGGGCCTTCGGAACATGAA	0.602		NaN											0	0	0	0.047766	0	8	8				
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:105858505G>A	uc002tco.1	+	1	306	c.190G>A	c.(190-192)GCT>ACT	p.A64T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCAGAGGCCGGCTATGCGCTC	0.617		NaN											0	0	0	0.139131	0	110	46				
ST6GAL2	84620	broad.mit.edu	37	2	107460193	107460193	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:107460193G>C	uc002tdq.2	-	2	360	c.241C>G	c.(241-243)CCC>GCC	p.P81A	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P81A|ST6GAL2_uc002tds.3_Missense_Mutation_p.P81A	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	81	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TGGGCGCGGGGCAGCGCCTGG	0.657		NaN											0	0	0	0.125774	0	27	72				
HNMT	3176	broad.mit.edu	37	2	138771674	138771674	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:138771674C>G	uc002tvc.2	+	7	1001	c.853C>G	c.(853-855)CTG>GTG	p.L285V	HNMT_uc002tvf.2_Missense_Mutation_p.L285V	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	285					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TAATAATACTCTGAGTTTCAT	0.343		NaN											0	0	0	0.049695	0	19	112				
LRP1B	53353	broad.mit.edu	37	2	141598563	141598563	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:141598563G>A	uc002tvj.1	-	30	6010	c.5038C>T	c.(5038-5040)CTA>TTA	p.L1680L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1680	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCTAGCCTTGCCACA	0.398		NaN								TSP Lung(27;0.18)			0	0	0	0.131918	0	48	62				
KCNH7	90134	broad.mit.edu	37	2	163302755	163302755	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:163302755C>G	uc002uch.1	-	7	1539	c.1327G>C	c.(1327-1329)GAA>CAA	p.E443Q	KCNH7_uc002uci.2_Missense_Mutation_p.E436Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	443	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TAGCCACATTCTCGTCTTTTC	0.378		NaN											0	0	0	0.108266	0	28	39				
NFE2L2	4780	broad.mit.edu	37	2	178095734	178095734	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:178095734T>G	uc002ulh.3	-	5	2152	c.1597A>C	c.(1597-1599)AAA>CAA	p.K533Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.K517Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.K510Q|NFE2L2_uc002uli.3_Missense_Mutation_p.K517Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	533	Leucine-zipper.				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTTCATCTTTCAAATGATCT	0.343		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.139131	0	101	103		Valid		
TTN	7273	broad.mit.edu	37	2	179482509	179482509	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:179482509T>C	uc010zfg.1	-	202	40089	c.39865A>G	c.(39865-39867)ATT>GTT	p.I13289V	TTN_uc010zfh.1_Missense_Mutation_p.I6984V|TTN_uc010zfi.1_Missense_Mutation_p.I6917V|TTN_uc010zfj.1_Missense_Mutation_p.I6792V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14216							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTACCAATTGGATCAGCA	0.378		NaN											0	0	0	0.062417	0	17	68				
CASP8	841	broad.mit.edu	37	2	202141587	202141587	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:202141587G>A	uc002uxr.1	+	8	907	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	CASP8_uc002uxo.1_Silent_p.S211S|CASP8_uc002uxp.1_Missense_Mutation_p.R250Q|CASP8_uc002uxq.1_Missense_Mutation_p.R218Q|CASP8_uc002uxt.1_Missense_Mutation_p.R292Q|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.R218Q|CASP8_uc002uxw.1_Missense_Mutation_p.R218Q|CASP8_uc002uxy.1_Missense_Mutation_p.R233Q|CASP8_uc002uxx.1_Missense_Mutation_p.R218Q|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Silent_p.S93S	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGCAAACCTCGGGGATACTGT	0.428		NaN								HNSCC(4;0.00038)			0	0	0	0.134883	0	26	21				
PLCD4	84812	broad.mit.edu	37	2	219501002	219501002	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219501002G>A	uc002vij.1	+	15	2264	c.2069G>A	c.(2068-2070)CGG>CAG	p.R690Q		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	690	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTATGTTTCCGGGTGCTGGTG	0.448		NaN											0	0	0	0.139131	0	168	183				
KIF1A	547	broad.mit.edu	37	2	241702670	241702670	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:241702670G>A	uc002vzy.2	-	20	1981	c.1835C>T	c.(1834-1836)ACG>ATG	p.T612M	KIF1A_uc010fzk.2_Missense_Mutation_p.T621M|KIF1A_uc002vzz.1_Missense_Mutation_p.T621M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	612					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCAGCTGGCGTCTCCGCACA	0.642		NaN											0	0	0	0.021553	0	6	11				
NSFL1C	55968	broad.mit.edu	37	20	1433180	1433180	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:1433180C>T	uc002wfc.2	-	7	1691	c.743G>A	c.(742-744)GGA>GAA	p.G248E	NSFL1C_uc002wfd.2_Missense_Mutation_p.G137E|NSFL1C_uc002wfe.2_Missense_Mutation_p.G217E|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.G14E	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	248						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						TTTGAAGGCTCCTTTGGGCTT	0.577		NaN											0	0	0	0.139131	0	146	330				
TASP1	55617	broad.mit.edu	37	20	13463978	13463978	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:13463978C>G	uc002woi.2	-	11	998	c.881G>C	c.(880-882)GGA>GCA	p.G294A	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G271A|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	294					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						AAGATGCTCTCCACATCCTAG	0.433		NaN											0	0	0	0.139131	0	59	154				
SLC32A1	140679	broad.mit.edu	37	20	37353313	37353313	+	Translation_Start_Site	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:37353313C>G	uc002xjc.2	+	1	209	c.-54C>G	c.(-56--52)ATCGC>ATGGC			NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1						neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTGCATCGCGTTCCCCG	0.692		NaN											0	0	0	0.038147	0	8	57				
NCOA5	57727	broad.mit.edu	37	20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44699006G>A	uc002xrd.2	-	2	736	c.208C>T	c.(208-210)CGG>TGG	p.R70W	NCOA5_uc002xrc.2_5'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.R70W	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CTGTGATCCCGCAAATCTCTA	0.562		NaN											0	0	0	0.021553	0	6	330				
CDH22	64405	broad.mit.edu	37	20	44841804	44841804	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:44841804C>G	uc002xrm.2	-	5	1263	c.862G>C	c.(862-864)GAG>CAG	p.E288Q	CDH22_uc010ghk.1_Missense_Mutation_p.E288Q|CDH22_uc002xrn.1_Missense_Mutation_p.E39Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	288	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGGGCTGACTCCTGGATGCTG	0.597		NaN											0	0	0	0.139131	0	52	67				
KCNG1	3755	broad.mit.edu	37	20	49626376	49626376	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:49626376C>T	uc002xwa.3	-	2	795	c.500G>A	c.(499-501)CGC>CAC	p.R167H	KCNG1_uc002xwb.2_Missense_Mutation_p.R167H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	167	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGGTAGCGGCGCTTGCAGCA	0.687		NaN											0	0	0	0.134883	0	28	150				
BCAS1	8537	broad.mit.edu	37	20	52645197	52645197	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr20:52645197T>A	uc002xws.2	-	4	795	c.457A>T	c.(457-459)ACC>TCC	p.T153S	BCAS1_uc010zzb.1_Missense_Mutation_p.T56S|BCAS1_uc010gim.2_Missense_Mutation_p.T56S|BCAS1_uc002xwt.2_Missense_Mutation_p.T153S|BCAS1_uc010gil.1_Missense_Mutation_p.T153S|BCAS1_uc010zzc.1_Missense_Mutation_p.T56S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	153						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCCCTGGGGTTTTATCTGTG	0.612		NaN											0	0	0	0.139131	0	104	121				
ADAMTS1	9510	broad.mit.edu	37	21	28214229	28214229	+	Silent	SNP	G	G	A	rs141975781		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:28214229G>A	uc002ymf.2	-	3	1613	c.1158C>T	c.(1156-1158)TCC>TCT	p.S386S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	386	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CTTCTATGACGGAGCAGCTTC	0.438		NaN											0	0	0	0.069456	0	38	84				
TFF2	7032	broad.mit.edu	37	21	43767668	43767668	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr21:43767668G>A	uc002zaw.2	-	3	445	c.303C>T	c.(301-303)TGC>TGT	p.C101C		NM_005423	NP_005414	Q03403	TFF2_HUMAN	trefoil factor 2 precursor	101	P-type 2.				digestion	extracellular region				pancreas(1)	1						TCCGAGAGGCGCATTCCTCGG	0.577		NaN											0	0	0	0.058154	0	10	51				
MYO18B	84700	broad.mit.edu	37	22	26286747	26286747	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:26286747G>A	uc003abz.1	+	26	4589	c.4339G>A	c.(4339-4341)GCC>ACC	p.A1447T	MYO18B_uc003aca.1_Missense_Mutation_p.A1328T|MYO18B_uc010guy.1_Missense_Mutation_p.A1329T|MYO18B_uc010guz.1_Missense_Mutation_p.A1328T|MYO18B_uc011aka.1_Missense_Mutation_p.A601T|MYO18B_uc011akb.1_Missense_Mutation_p.A960T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1447	Potential.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CTCTGACCTTGCCGATGAGCG	0.592		NaN											0	0	0	0.139131	0	65	24				
SF3A1	10291	broad.mit.edu	37	22	30748978	30748978	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:30748978G>C	uc003ahl.2	-	2	279	c.147C>G	c.(145-147)GTC>GTG	p.V49V		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	49					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						CAATATTTCTGACCTCTGGAG	0.478		NaN											0	0	0	0.116897	0	29	172				
CSNK1E	1454	broad.mit.edu	37	22	38698909	38698909	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:38698909C>T	uc003avj.2	-	4	554	c.293G>A	c.(292-294)CGC>CAC	p.R98H	CSNK1E_uc003avk.2_Missense_Mutation_p.R98H|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R98H|CSNK1E_uc003avo.2_Missense_Mutation_p.R98H|CSNK1E_uc003avp.1_Missense_Mutation_p.R98H|CSNK1E_uc003avq.1_Missense_Mutation_p.R98H|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	98	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GCTGAATTTGCGGGAACAGAA	0.612		NaN											0	0	0	0.021553	0	5	205				
CELSR1	9620	broad.mit.edu	37	22	46792543	46792543	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr22:46792543G>A	uc003bhw.1	-	13	5802	c.5802C>T	c.(5800-5802)TGC>TGT	p.C1934C	CELSR1_uc011arc.1_Silent_p.C255C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1934	Extracellular (Potential).|EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCCACACTCGCACACGTAGC	0.622		NaN											0	0	0	0.02938	0	7	20				
GRM7	2917	broad.mit.edu	37	3	6903515	6903515	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:6903515C>T	uc003bqm.2	+	1	714	c.440C>T	c.(439-441)CCG>CTG	p.P147L	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P147L|GRM7_uc003bql.2_Missense_Mutation_p.P147L	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	147	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTCGTCAAGCCGGAGAAAGTA	0.597		NaN											0	0	0	0.0918	0	23	70				
VILL	50853	broad.mit.edu	37	3	38039653	38039653	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:38039653G>A	uc003chj.2	+	8	1123	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	VILL_uc003chk.1_Silent_p.Q279Q|VILL_uc003chl.2_Silent_p.Q279Q|VILL_uc010hgu.2_Silent_p.Q109Q	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	279	Gelsolin-like 3.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTGCTGCAGGAGGAGGTGA	0.642		NaN											0	0	0	0.069234	0	11	35				
SLC6A20	54716	broad.mit.edu	37	3	45811793	45811793	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:45811793C>T	uc011bai.1	-	7	1130	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M	SLC6A20_uc003cow.2_Translation_Start_Site|SLC6A20_uc011baj.1_Missense_Mutation_p.V299M	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	336	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGCCCTTCACCTGCTCCAGG	0.517		NaN											0	0	0	0.11911	0	15	61				
SMARCC1	6599	broad.mit.edu	37	3	47752241	47752241	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:47752241C>T	uc003crq.2	-	9	968	c.850G>A	c.(850-852)GAT>AAT	p.D284N	SMARCC1_uc011bbd.1_Missense_Mutation_p.D175N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	284					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACCTCATAATCCTCCTCATTC	0.343		NaN											0	0	0	0.064281	0	33	89		Valid		
RNF123	63891	broad.mit.edu	37	3	49757948	49757948	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:49757948G>C	uc003cxh.2	+	36	3591	c.3505G>C	c.(3505-3507)GAG>CAG	p.E1169Q	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1169						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGGAGAGAGCAAGCCAC	0.577		NaN											0	0	0	0.11911	0	14	56				
CACNA1D	776	broad.mit.edu	37	3	53766966	53766966	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:53766966C>G	uc003dgv.3	+	19	2761	c.2598C>G	c.(2596-2598)TTC>TTG	p.F866L	CACNA1D_uc003dgu.3_Missense_Mutation_p.F886L|CACNA1D_uc003dgy.3_Missense_Mutation_p.F866L|CACNA1D_uc003dgw.3_Missense_Mutation_p.F533L|CACNA1D_uc003dgx.1_Missense_Mutation_p.F14L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	866	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAGCGCTTTCTTCATTCTTA	0.527		NaN											0	0	0	0.080422	0	38	37				
SLC25A26	115286	broad.mit.edu	37	3	66293723	66293723	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:66293723C>T	uc011bfq.1	+	4	1015	c.287C>T	c.(286-288)TCT>TTT	p.S96F	SLC25A26_uc011bfs.1_Missense_Mutation_p.S8F|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.S96F|SLC25A26_uc003dmt.2_Missense_Mutation_p.S8F	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	96	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTGGCTGCCTCTGCTGGAGAA	0.313		NaN											0	0	0	0.09836	0	37	104				
IFT122	55764	broad.mit.edu	37	3	129195257	129195257	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:129195257C>G	uc003emm.2	+	10	1122	c.916C>G	c.(916-918)CTT>GTT	p.L306V	IFT122_uc003eml.2_Missense_Mutation_p.L357V|IFT122_uc003emn.2_Missense_Mutation_p.L247V|IFT122_uc003emo.2_Missense_Mutation_p.L195V|IFT122_uc003emp.2_Missense_Mutation_p.L156V|IFT122_uc010htc.2_Missense_Mutation_p.L298V|IFT122_uc011bky.1_Missense_Mutation_p.L97V|IFT122_uc003emq.2_Missense_Mutation_p.L146V|IFT122_uc003emr.2_Missense_Mutation_p.L97V|IFT122_uc011bla.1_Missense_Mutation_p.L97V|IFT122_uc011bkx.1_Missense_Mutation_p.L146V|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	306	WD 5.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GCAAGTATCTCTTTTCACCAA	0.507		NaN											0	0	0	0.139131	0	72	71				
IGSF10	285313	broad.mit.edu	37	3	151163672	151163672	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:151163672G>C	uc011bod.1	-	4	4097	c.4097C>G	c.(4096-4098)TCT>TGT	p.S1366C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1366					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGAAGCCAGAACTCTGGTC	0.478		NaN											0	0	0	0.139131	0	62	221				
NMD3	51068	broad.mit.edu	37	3	160942825	160942825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:160942825C>A	uc003feb.1	+	3	271	c.152C>A	c.(151-153)TCG>TAG	p.S51*	NMD3_uc003fec.2_Nonsense_Mutation_p.S51*|NMD3_uc003fed.1_Nonsense_Mutation_p.S51*	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	51					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AAACAAGTCTCGATTTCGTTC	0.413		NaN											1	0	7.50695e-29	0.139131	8.25488e-29	55	128				
PPP1R2	5504	broad.mit.edu	37	3	195245954	195245954	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:195245954C>A	uc003fup.2	-	5	808	c.432G>T	c.(430-432)AGG>AGT	p.R144S		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	144					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		AGTGAAGCTTCCTTTTCATTT	0.284		NaN											1	0	1.22102e-19	0.139131	1.32797e-19	51	59				
RPL35A	6165	broad.mit.edu	37	3	197678160	197678160	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr3:197678160G>A	uc003fyr.2	+	3	215	c.142G>A	c.(142-144)GCT>ACT	p.A48T	IQCG_uc003fyp.2_Intron|IQCG_uc003fyo.2_5'Flank|IQCG_uc003fyq.3_5'Flank|RPL35A_uc003fys.2_Missense_Mutation_p.A48T	NM_000996	NP_000987	P18077	RL35A_HUMAN	ribosomal protein L35a	48					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		CAAGAGATGCGCTTATGTATA	0.358		NaN											0	0	0	0.050027	0	29	85				
PDE6B	5158	broad.mit.edu	37	4	656971	656971	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:656971G>A	uc003gap.2	+	15	1968	c.1915G>A	c.(1915-1917)GAG>AAG	p.E639K	PDE6B_uc003gao.3_Missense_Mutation_p.E639K|PDE6B_uc011buy.1_Missense_Mutation_p.E360K|PDE6B_uc011buz.1_Missense_Mutation_p.E71K	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	639					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CCTGCTCTCGGAGGAGGTTGG	0.622		NaN											0	0	0	0.074837	0	35	74				
TACC3	10460	broad.mit.edu	37	4	1733001	1733001	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1733001G>C	uc003gdo.2	+	6	1672	c.1564G>C	c.(1564-1566)GAG>CAG	p.E522Q	TACC3_uc010ibz.2_Missense_Mutation_p.E522Q|TACC3_uc003gdp.2_Missense_Mutation_p.E162Q|TACC3_uc010ica.2_5'UTR	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	522						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGCTGAAAGAGGAGAGCTT	0.627		NaN											0	0	0	0.139131	0	58	115				
LETM1	3954	broad.mit.edu	37	4	1843344	1843344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:1843344C>T	uc003gdv.2	-	3	621	c.324G>A	c.(322-324)TGG>TGA	p.W108*	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Nonsense_Mutation_p.W108*	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	108					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGAAGAGTGCCAGCCACGCA	0.587		NaN											0	0	0	0.009096	0	4	122				
LDB2	9079	broad.mit.edu	37	4	16900009	16900009	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:16900009C>T	uc003goz.2	-	1	416	c.100G>A	c.(100-102)GAG>AAG	p.E34K	LDB2_uc003gpa.2_Missense_Mutation_p.E34K|LDB2_uc003gpb.2_Missense_Mutation_p.E34K|LDB2_uc011bxh.1_Missense_Mutation_p.E34K|LDB2_uc010iee.2_Missense_Mutation_p.E34K	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	34							LIM domain binding|transcription cofactor activity				0						TTGTTCATCTCATAGATTCGG	0.453		NaN											0	0	0	0.139131	0	68	76				
SOD3	6649	broad.mit.edu	37	4	24801248	24801248	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:24801248C>T	uc003gqz.2	+	2	310	c.105C>T	c.(103-105)ATC>ATT	p.I35I	SOD3_uc003gqy.1_RNA	NM_003102	NP_003093	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular precursor	35					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding				0		Breast(46;0.0503)				CGGAGTGGATCCGAGACATGT	0.697		NaN											0	0	0	0.115264	0	3	9				
PDGFRA	5156	broad.mit.edu	37	4	55139810	55139810	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:55139810G>A	uc003han.3	+	10	1802	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.A385T|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	491	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGTGACTTTCGCCAAAGTGGA	0.532		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.0918	0	26	131				
AASDH	132949	broad.mit.edu	37	4	57250456	57250456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:57250456G>A	uc003hbn.2	-	2	163	c.10C>T	c.(10-12)CAG>TAG	p.Q4*	AASDH_uc010ihb.2_5'Flank|AASDH_uc011caa.1_5'UTR|AASDH_uc003hbo.2_Intron|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbp.2_Nonsense_Mutation_p.Q4*|AASDH_uc003hbq.1_Nonsense_Mutation_p.Q4*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	4					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCAATTCCTGAAGAGTCATT	0.418		NaN											0	0	0	0.080422	0	39	76				
ALB	213	broad.mit.edu	37	4	74285275	74285275	+	Silent	SNP	G	G	A	rs11538206		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:74285275G>A	uc003hgs.3	+	13	1777	c.1704G>A	c.(1702-1704)CTG>CTA	p.L568L	ALB_uc003hgw.3_Silent_p.L376L|ALB_uc011cbe.1_Silent_p.L247L|ALB_uc003hgt.3_Silent_p.L568L|ALB_uc010iii.2_Silent_p.L453L|ALB_uc003hgu.3_Silent_p.L418L|ALB_uc003hgv.3_Silent_p.L247L|ALB_uc011cbf.1_Silent_p.L458L|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.L247L	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	568	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAGCAACTGAAAGCTGTTA	0.413		NaN											0	0	0	0.099896	0	28	104				
G3BP2	9908	broad.mit.edu	37	4	76570708	76570708	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76570708C>G	uc003hir.2	-	12	1520	c.1355G>C	c.(1354-1356)AGA>ACA	p.R452T	G3BP2_uc003his.2_Missense_Mutation_p.R452T|G3BP2_uc003hit.2_Missense_Mutation_p.R419T	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	452	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGAGGTCCTCTTCCATCACG	0.582		NaN											0	0	0	0.069288	0	23	109				
PPEF2	5470	broad.mit.edu	37	4	76781888	76781888	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:76781888C>T	uc003hix.2	-	17	2551	c.2194G>A	c.(2194-2196)GAT>AAT	p.D732N	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	732					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGAGGCATCGCCCTCTGGG	0.512		NaN											0	0	0	0.069288	0	22	64				
PTPN13	5783	broad.mit.edu	37	4	87735669	87735669	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:87735669G>C	uc003hpz.2	+	48	7903	c.7423G>C	c.(7423-7425)GAA>CAA	p.E2475Q	PTPN13_uc003hpy.2_Missense_Mutation_p.E2480Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2456Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2284Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2475						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGCAGAAGAAGAGCAAAA	0.408		NaN											0	0	0	0.132662	0	14	29				
PPM1K	152926	broad.mit.edu	37	4	89199513	89199513	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:89199513T>C	uc003hrm.3	-	2	613	c.223A>G	c.(223-225)ATT>GTT	p.I75V	PPM1K_uc010ikp.1_Missense_Mutation_p.I75V|PPM1K_uc003hrn.2_Missense_Mutation_p.I75V	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	75					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGCAGCAGAATTGGCTCATCA	0.498		NaN											0	0	0	0.125774	0	31	35				
CENPE	1062	broad.mit.edu	37	4	104103931	104103931	+	Silent	SNP	A	A	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:104103931A>C	uc003hxb.1	-	11	1041	c.951T>G	c.(949-951)CTT>CTG	p.L317L	CENPE_uc003hxc.1_Silent_p.L317L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	317	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGAGAGCAGTAAGTGTTTCAT	0.353		NaN											0	0	0	0.116897	0	28	141				
ARSJ	79642	broad.mit.edu	37	4	114899684	114899684	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:114899684G>C	uc003ibq.1	-	1	1195	c.307C>G	c.(307-309)CTT>GTT	p.L103V	ARSJ_uc010imu.1_Missense_Mutation_p.L103V|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	103						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AGCTTGTCAAGAGTAGGTGTT	0.458		NaN											0	0	0	0.124865	0	48	79				
PRSS12	8492	broad.mit.edu	37	4	119203155	119203155	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:119203155G>T	uc003ica.1	-	13	2611	c.2564C>A	c.(2563-2565)TCT>TAT	p.S855Y		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	855	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AACACCAGGAGAATCCTTGAC	0.488		NaN											1	0	2.98393e-07	0.076483	3.0983e-07	22	91				
LRBA	987	broad.mit.edu	37	4	151771938	151771938	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:151771938C>T	uc010ipj.2	-	24	4416	c.3942G>A	c.(3940-3942)ATG>ATA	p.M1314I	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.M1314I	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1314	WD 1.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AACGTTGATGCATCTGAGACC	0.393		NaN											0	0	0	0.146539	0	17	90				
TLR2	7097	broad.mit.edu	37	4	154625550	154625550	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:154625550C>G	uc003inq.2	+	3	1710	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	TLR2_uc003inr.2_Silent_p.L497L|TLR2_uc003ins.2_Silent_p.L497L	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	497	LRR 13.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				ATGCCTCCCTCTTACCCATGT	0.358		NaN											0	0	0	0.083992	0	22	112				
GRIA2	2891	broad.mit.edu	37	4	158142864	158142864	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:158142864G>A	uc003ipm.3	+	2	593	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	GRIA2_uc011cit.1_5'UTR|GRIA2_uc003ipl.3_Missense_Mutation_p.R45Q|GRIA2_uc003ipk.3_5'UTR|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	45	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTGCATTTCGAGTAGGGATG	0.507		NaN											0	0	0	0.080422	0	36	130				
PDLIM3	27295	broad.mit.edu	37	4	186425667	186425667	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr4:186425667C>G	uc003ixw.3	-	7	991	c.867G>C	c.(865-867)CAG>CAC	p.Q289H	PDLIM3_uc003ixx.3_Missense_Mutation_p.Q241H|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	289						sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCGGCATCCTCTGTGCCCCGC	0.507		NaN											0	0	0	0.0333	0	15	59				
MED10	84246	broad.mit.edu	37	5	6378552	6378552	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:6378552G>A	uc003jdo.2	-	1	88	c.45C>T	c.(43-45)TTC>TTT	p.F15F		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	15					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(1)	1						TGTTCTCCACGAACTTCTCCA	0.652		NaN											0	0	0	0.076483	0	23	14				
ADAMTS12	81792	broad.mit.edu	37	5	33614349	33614349	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:33614349C>T	uc003jia.1	-	16	2684	c.2521G>A	c.(2521-2523)GGG>AGG	p.G841R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G756R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	841	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCACCTGTCCCGCAGGTCACA	0.507		NaN								HNSCC(64;0.19)			0	0	0	0.146539	0	17	34				
HCN1	348980	broad.mit.edu	37	5	45262237	45262237	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:45262237G>A	uc003jok.2	-	8	2484	c.2459C>T	c.(2458-2460)ACG>ATG	p.T820M		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	820	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGGGACCGCCGTCACGGGTTG	0.677		NaN											0	0	0	0.074837	0	36	37				
GPR98	84059	broad.mit.edu	37	5	89948215	89948215	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:89948215T>C	uc003kju.2	+	19	3565	c.3469T>C	c.(3469-3471)TTT>CTT	p.F1157L	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1157	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGCAGCTCTTTCAGAATGA	0.373		NaN											0	0	0	0.125774	0	21	116				
PCDHA7	56141	broad.mit.edu	37	5	140215250	140215250	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140215250C>T	uc003lhq.2	+	1	1282	c.1282C>T	c.(1282-1284)CGG>TGG	p.R428W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTACCGCGCGGGACGGGGG	0.617		NaN											0	0	0	0.139131	0	43	99				
PCDHA13	56136	broad.mit.edu	37	5	140263524	140263524	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:140263524C>T	uc003lif.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.697		NaN											0	0	0	0.139131	0	67	40				
ADRA1B	147	broad.mit.edu	37	5	159344642	159344642	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:159344642G>C	uc003lxt.1	+	1	903	c.730G>C	c.(730-732)GAG>CAG	p.E244Q		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	244	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AGTCATGAAGGAGATGTCCAA	0.527		NaN											0	0	0	0.139131	0	75	23				
ZNF354B	117608	broad.mit.edu	37	5	178310385	178310385	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr5:178310385C>T	uc003mjl.2	+	5	1158	c.932C>T	c.(931-933)TCT>TTT	p.S311F	ZNF354B_uc003mjm.2_Missense_Mutation_p.S311F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	311	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGAAGGTCTGGGCTTTTT	0.418		NaN											0	0	0	0.0333	0	18	34				
ZNF184	7738	broad.mit.edu	37	6	27420988	27420988	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:27420988G>A	uc003njj.2	-	5	1161	c.350C>T	c.(349-351)TCT>TTT	p.S117F	ZNF184_uc010jqv.2_Missense_Mutation_p.S117F|ZNF184_uc003nji.2_Missense_Mutation_p.S117F	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCTTCTTCAGAAATGTCAGG	0.373		NaN											0	0	0	0.117977	0	44	119				
GTPBP2	54676	broad.mit.edu	37	6	43593965	43593965	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:43593965C>G	uc003ovs.2	-	3	433	c.396G>C	c.(394-396)GAG>GAC	p.E132D	GTPBP2_uc010jyv.2_Missense_Mutation_p.E44D|GTPBP2_uc003ovt.1_Missense_Mutation_p.E132D	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	132							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAGCATACTTCTCTGCCATCC	0.592		NaN											0	0	0	0.059317	0	32	107				
SLC25A27	9481	broad.mit.edu	37	6	46644165	46644165	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:46644165G>C	uc003oyh.2	+	9	1197	c.946G>C	c.(946-948)GAG>CAG	p.E316Q	SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.E230Q|SLC25A27_uc003oyi.2_Missense_Mutation_p.E246Q	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	316	Solcar 3.				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			AAAAATCAGAGAGATGAGTGG	0.368		NaN											0	0	0	0.144211	0	29	43				
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:52268632C>T	uc003pao.3	+	2	795	c.621C>T	c.(619-621)GTC>GTT	p.V207V		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	207	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547		NaN											0	0	0	0.139131	0	48	51				
BCLAF1	9774	broad.mit.edu	37	6	136599241	136599241	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:136599241G>C	uc003qgx.1	-	4	1031	c.778C>G	c.(778-780)CAG>GAG	p.Q260E	BCLAF1_uc003qgw.1_Missense_Mutation_p.Q260E|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q258E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q258E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	260					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTGAATGCTGAGAAGGAGTA	0.443		NaN											0	0	0	0.058154	0	10	71				
WTAP	9589	broad.mit.edu	37	6	160174506	160174506	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr6:160174506A>G	uc003qsl.2	+	7	689	c.467A>G	c.(466-468)AAG>AGG	p.K156R	WTAP_uc003qso.2_Missense_Mutation_p.K37R	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	156					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ACAGGGAAAAAGTTAATGGCG	0.423		NaN											0	0	0	0.02938	0	7	65				
TNRC18	84629	broad.mit.edu	37	7	5352441	5352441	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:5352441G>A	uc003soi.3	-	27	8430	c.8081C>T	c.(8080-8082)TCC>TTC	p.S2694F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2694							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCTGCGCGGAAGGGCCAGC	0.622		NaN											0	0	0	0.014758	0	5	13				
EPDR1	54749	broad.mit.edu	37	7	37960368	37960368	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:37960368C>T	uc003tfp.2	+	1	206	c.187C>T	c.(187-189)CGC>TGC	p.R63C	EPDR1_uc003tfq.2_Missense_Mutation_p.R63C|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						TACCGGGACTCGCGCGTCCGG	0.672		NaN											0	0	0	0.080422	0	29	13				
ZMIZ2	83637	broad.mit.edu	37	7	44796036	44796036	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:44796036C>T	uc003tlr.2	+	3	186	c.63C>T	c.(61-63)TTC>TTT	p.F21F	ZMIZ2_uc003tlq.2_Silent_p.F21F|ZMIZ2_uc003tls.2_Silent_p.F21F	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	21					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						ATGGTTCATTCGCATATGAGT	0.577		NaN											0	0	0	0.139131	0	80	46				
HIP1	3092	broad.mit.edu	37	7	75203167	75203167	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:75203167G>C	uc003uds.1	-	8	685	c.644C>G	c.(643-645)ACG>AGG	p.T215R	HIP1_uc011kfz.1_Missense_Mutation_p.T92R	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	215					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CCCTGCTGCCGTCACGGACAC	0.547		NaN	T	PDGFRB	CMML								0	0	0	0.021553	0	6	97				
SEMA3C	10512	broad.mit.edu	37	7	80374329	80374329	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:80374329G>A	uc003uhj.2	-	18	2699	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	SEMA3C_uc011kgw.1_Missense_Mutation_p.R731W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	713					immune response|response to drug	membrane	receptor activity			ovary(1)	1						TGTTGCTGCCGAGTGTCTTTG	0.483		NaN											0	0	0	0.080422	0	39	161				
CDK6	1021	broad.mit.edu	37	7	92462586	92462586	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92462586C>T	uc011khw.1	-	2	464	c.52G>A	c.(52-54)GAG>AAG	p.E18K	CDK6_uc010lez.2_Missense_Mutation_p.E18K	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	18	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCCGATCTCCGCCACGCAT	0.537		NaN	T	MLLT10	ALL								0	0	0	0.0333	0	16	13				
SAMD9	54809	broad.mit.edu	37	7	92732940	92732940	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:92732940C>G	uc003umf.2	-	3	2727	c.2471G>C	c.(2470-2472)CGA>CCA	p.R824P	SAMD9_uc003umg.2_Missense_Mutation_p.R824P	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTCATATCGAATGTACTT	0.358		NaN											0	0	0	0.083992	0	26	119				
SLC26A3	1811	broad.mit.edu	37	7	107423661	107423661	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:107423661C>G	uc003ver.2	-	9	1319	c.1108G>C	c.(1108-1110)GAT>CAT	p.D370H	SLC26A3_uc003ves.2_Missense_Mutation_p.D335H	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	370					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TGATTGCCATCAAGTGGATAA	0.423		NaN											0	0	0	0.139131	0	68	77				
DOCK4	9732	broad.mit.edu	37	7	111508111	111508111	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:111508111C>T	uc003vfx.2	-	22	2478	c.2209G>A	c.(2209-2211)GAG>AAG	p.E737K	DOCK4_uc003vfw.2_Missense_Mutation_p.E178K|DOCK4_uc003vfy.2_Missense_Mutation_p.E737K|DOCK4_uc003vga.1_Missense_Mutation_p.E342K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	737					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATGAGAAGCTCCTGAATGCAG	0.433		NaN											0	0	0	0.058154	0	9	42				
TPK1	27010	broad.mit.edu	37	7	144245674	144245674	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:144245674C>T	uc003weq.2	-	8	626	c.523G>A	c.(523-525)GAC>AAC	p.D175N	TPK1_uc003weo.2_Missense_Mutation_p.D121N|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D126N|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	175					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	ATTCCAGTGTCTACATGCAAC	0.473		NaN											0	0	0	0.050027	0	33	148				
INTS9	55756	broad.mit.edu	37	8	28633422	28633422	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:28633422C>T	uc003xha.2	-	14	1716	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	INTS9_uc011lav.1_Missense_Mutation_p.E449K|INTS9_uc011law.1_Missense_Mutation_p.E452K|INTS9_uc011lax.1_Missense_Mutation_p.E366K|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	473					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GTGTACTGCTCAGGACACACC	0.622		NaN											0	0	0	0.0918	0	24	56				
VPS13B	157680	broad.mit.edu	37	8	100833675	100833675	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:100833675G>C	uc003yiv.2	+	50	9334	c.9223G>C	c.(9223-9225)GAA>CAA	p.E3075Q	VPS13B_uc003yiw.2_Missense_Mutation_p.E3050Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3075					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTTGATACTGAAATAAGACT	0.418		NaN											0	0	0	0.076483	0	22	146				
UBR5	51366	broad.mit.edu	37	8	103335546	103335546	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:103335546C>T	uc003ykr.1	-	14	1810	c.1777G>A	c.(1777-1779)GAA>AAA	p.E593K	UBR5_uc003yks.1_Missense_Mutation_p.E593K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	593					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTTAGCTTCAGTAGTTTTG	0.368		NaN											0	0	0	0.047766	0	7	54				
TG	7038	broad.mit.edu	37	8	133906095	133906095	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr8:133906095G>A	uc003ytw.2	+	11	2963	c.2922G>A	c.(2920-2922)CCG>CCA	p.P974P		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	974	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCTTCCTCCGCTCTTCCCGC	0.602		NaN											0	0	0	0.144211	0	31	168				
VLDLR	7436	broad.mit.edu	37	9	2652927	2652927	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:2652927C>G	uc003zhk.1	+	18	2961	c.2564C>G	c.(2563-2565)TCT>TGT	p.S855C	VLDLR_uc003zhl.1_Missense_Mutation_p.S827C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.S786C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	855	Cytoplasmic (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CACAGTGCTTCTGTTGGACAC	0.448		NaN											0	0	0	0.139131	0	72	81				
C9orf102	375748	broad.mit.edu	37	9	98690414	98690414	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:98690414C>G	uc004avt.3	+	10	2008	c.1620C>G	c.(1618-1620)CTC>CTG	p.L540L	C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Silent_p.L242L|C9orf102_uc010mry.1_Silent_p.L242L|C9orf102_uc010mrz.2_Silent_p.L351L|C9orf102_uc004avu.2_Intron	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	540	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				aagttcttctcttttcttttt	0		NaN											0	0	0	0.0918	0	25	42				
CORO2A	7464	broad.mit.edu	37	9	100888882	100888882	+	Silent	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:100888882C>G	uc004ayl.2	-	11	1661	c.1395G>C	c.(1393-1395)CTG>CTC	p.L465L	CORO2A_uc004aym.2_Silent_p.L465L|CORO2A_uc004ayk.2_Silent_p.L112L	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	465					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				AGCCATTTGTCAGCCAGGTTT	0.567		NaN											0	0	0	0.139131	0	64	152				
SVEP1	79987	broad.mit.edu	37	9	113213596	113213596	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:113213596G>A	uc010mtz.2	-	23	4211	c.3874C>T	c.(3874-3876)CGT>TGT	p.R1292C	SVEP1_uc010mua.1_Missense_Mutation_p.R1292C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1292	EGF-like 3; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATGTGCAACGATAGCCAGCC	0.373		NaN											0	0	0	0.134883	0	30	14				
NUP188	23511	broad.mit.edu	37	9	131721315	131721315	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:131721315G>C	uc004bws.1	+	8	509	c.487G>C	c.(487-489)GAT>CAT	p.D163H		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	163					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						AGACTGTGTTGATAAATTGGA	0.284		NaN											0	0	0	0.116897	0	29	45				
FNBP1	23048	broad.mit.edu	37	9	132658259	132658259	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:132658259C>T	uc004byw.1	-	16	1923	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T	FNBP1_uc011mbv.1_Silent_p.T558T|FNBP1_uc011mbw.1_Silent_p.T563T|FNBP1_uc004bza.2_Silent_p.T502T|FNBP1_uc004byz.1_Silent_p.T539T|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Silent_p.T196T|FNBP1_uc004byx.1_Silent_p.T484T|FNBP1_uc004byy.1_Silent_p.T474T	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	568	Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTACGGAAATCGTTCCTTCAT	0.443		NaN	T	MLL	AML								0	0	0	0.0918	0	22	49				
DDX31	64794	broad.mit.edu	37	9	135545428	135545428	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:135545428G>A	uc004cbq.1	-	1	361	c.209C>T	c.(208-210)CCC>CTC	p.P70L	DDX31_uc010mzu.1_Missense_Mutation_p.P70L|DDX31_uc004cbr.1_Missense_Mutation_p.P70L|DDX31_uc004cbs.1_Missense_Mutation_p.P70L|GTF3C4_uc010mzv.2_5'Flank|GTF3C4_uc010mzw.2_5'Flank	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	70						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCCCCTTCCGGGTCCGGAACG	0.761		NaN											0	0	0	0.115264	0	2	1				
RXRA	6256	broad.mit.edu	37	9	137300844	137300844	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:137300844G>A	uc004cfb.2	+	4	651	c.489G>A	c.(487-489)GTG>GTA	p.V163V	RXRA_uc004cfc.1_Silent_p.V66V	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	163	Nuclear receptor.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGCGGACGGTGCGCAAGGACC	0.642		NaN											0	0	0	0.139131	0	64	32				
NOTCH1	4851	broad.mit.edu	37	9	139391498	139391498	+	Silent	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139391498G>C	uc004chz.2	-	34	6693	c.6693C>G	c.(6691-6693)CTC>CTG	p.L2231L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2231	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGTGGTTGAGGGGCACGG	0.721		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.11911	0	12	16				
ENTPD2	954	broad.mit.edu	37	9	139945421	139945421	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr9:139945421T>C	uc004ckw.1	-	5	763	c.707A>G	c.(706-708)TAC>TGC	p.Y236C	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Y236C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	236	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGTGGGTGTAGACTCGGTA	0.632		NaN											0	0	0	0.105934	0	6	23				
KAL1	3730	broad.mit.edu	37	X	8507728	8507728	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:8507728C>T	uc004csf.2	-	10	1576	c.1426G>A	c.(1426-1428)GAG>AAG	p.E476K		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	476	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GATGATGCCTCTGATCCGGTT	0.453		NaN											0	0	0	0.139131	0	48	259				
DMD	1756	broad.mit.edu	37	X	31645811	31645811	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:31645811T>G	uc004dda.1	-	55	8440	c.8196A>C	c.(8194-8196)AAA>AAC	p.K2732N	DMD_uc004dcr.1_Missense_Mutation_p.K272N|DMD_uc004dcs.1_Missense_Mutation_p.K272N|DMD_uc004dct.1_Missense_Mutation_p.K272N|DMD_uc004dcu.1_Missense_Mutation_p.K272N|DMD_uc004dcv.1_Missense_Mutation_p.K272N|DMD_uc004dcw.2_Missense_Mutation_p.K1388N|DMD_uc004dcx.2_Missense_Mutation_p.K1391N|DMD_uc004dcz.2_Missense_Mutation_p.K2609N|DMD_uc004dcy.1_Missense_Mutation_p.K2728N|DMD_uc004ddb.1_Missense_Mutation_p.K2724N	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2732	Spectrin 19.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCAGCTCTTTTACTCCCT	0.433		NaN											0	0	0	0.049695	0	15	90				
EFHC2	80258	broad.mit.edu	37	X	44108098	44108098	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44108098C>T	uc004dgb.3	-	7	1013	c.923G>A	c.(922-924)GGT>GAT	p.G308D		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	308	DM10 2.						calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						TATAAAGTCACCATATGAATT	0.378		NaN											0	0	0	0.092188	0	38	45				
KDM6A	7403	broad.mit.edu	37	X	44938512	44938512	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:44938512C>T	uc004dge.3	+	20	3435	c.3060C>T	c.(3058-3060)ATC>ATT	p.I1020I	KDM6A_uc010nhk.2_Silent_p.I986I|KDM6A_uc011mkz.1_Silent_p.I1072I|KDM6A_uc011mla.1_Silent_p.I975I|KDM6A_uc011mlb.1_Silent_p.I1027I|KDM6A_uc011mlc.1_Silent_p.I724I|KDM6A_uc011mld.1_Silent_p.I659I	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1020					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CAAAGAAAATCTGGCATTGTG	0.403		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.139131	0	48	100				
HUWE1	10075	broad.mit.edu	37	X	53603879	53603879	+	Silent	SNP	T	T	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:53603879T>C	uc004dsp.2	-	44	6267	c.5865A>G	c.(5863-5865)GCA>GCG	p.A1955A	HUWE1_uc004dsn.2_Silent_p.A780A	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1955					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGCATGGTATGCAGCCAGAG	0.383		NaN											0	0	0	0.139131	0	45	68				
FAM120C	54954	broad.mit.edu	37	X	54143003	54143003	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:54143003G>C	uc004dsz.3	-	10	2370	c.2287C>G	c.(2287-2289)CTG>GTG	p.L763V	FAM120C_uc011moh.1_Missense_Mutation_p.L763V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	763										ovary(1)|central_nervous_system(1)	2						ATGAGCAGCAGATGGGTGGGG	0.478		NaN											0	0	0	0.146539	0	14	83				
STARD8	9754	broad.mit.edu	37	X	67940785	67940785	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:67940785C>T	uc004dxa.2	+	8	2201	c.1829C>T	c.(1828-1830)TCT>TTT	p.S610F	STARD8_uc004dxb.2_Missense_Mutation_p.S690F|STARD8_uc004dxc.3_Missense_Mutation_p.S610F	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	610	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						TTCCGCAAGTCTGGGGTCAAG	0.572		NaN											0	0	0	0.069456	0	36	39				
MED12	9968	broad.mit.edu	37	X	70345221	70345221	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70345221G>T	uc004dyy.2	+	16	2446	c.2247G>T	c.(2245-2247)GAG>GAT	p.E749D	MED12_uc011mpq.1_Missense_Mutation_p.E749D|MED12_uc004dyz.2_Missense_Mutation_p.E749D|MED12_uc004dza.2_Missense_Mutation_p.E596D	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	749					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCAGCCATGAGTGCAACCAGC	0.542		NaN											1	0	3.76525e-18	0.139131	4.08016e-18	46	26				
TAF1	6872	broad.mit.edu	37	X	70608124	70608124	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:70608124G>A	uc004dzu.3	+	16	2513	c.2462G>A	c.(2461-2463)CGG>CAG	p.R821Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R842Q|TAF1_uc004dzv.3_5'UTR	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	821					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AGTAAAGATCGGCCACGGAGG	0.433		NaN											0	0	0	0.139131	0	104	82				
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:78427144G>A	uc004edg.1	+	1	676	c.640G>A	c.(640-642)GAT>AAT	p.D214N		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	214	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						ATCACTGCAAGATAAATATCC	0.428		NaN								HNSCC(63;0.18)			0	0	0	0.059317	0	31	99				
DRP2	1821	broad.mit.edu	37	X	100513302	100513302	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:100513302C>T	uc004egz.2	+	22	2764	c.2395C>T	c.(2395-2397)CTC>TTC	p.L799F	DRP2_uc011mrh.1_Missense_Mutation_p.L721F	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	799					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						TGGCAGGATTCTCCAGGGAGA	0.587		NaN											0	0	0	0.02938	0	3	6				
HTR2C	3358	broad.mit.edu	37	X	114141690	114141690	+	Silent	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:114141690C>T	uc004epu.1	+	6	1817	c.1089C>T	c.(1087-1089)ATC>ATT	p.I363I	HTR2C_uc010nqc.1_Silent_p.I363I|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	363	Helical; Name=7; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTTCAGGAATCAATCCTCTGG	0.398		NaN											0	0	0	0.139131	0	139	155				
GLUD2	2747	broad.mit.edu	37	X	120183007	120183007	+	Missense_Mutation	SNP	C	C	T	rs141237083		TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:120183007C>T	uc004eto.2	+	1	1546	c.1469C>T	c.(1468-1470)ACG>ATG	p.T490M		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	490					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATTGTACCCACGGCAGAGTTC	0.438		NaN											0	0	0	0.139131	0	111	111				
UTP14A	10813	broad.mit.edu	37	X	129059059	129059059	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:129059059C>G	uc004euz.2	+	12	1665	c.1637C>G	c.(1636-1638)CCT>CGT	p.P546R	UTP14A_uc011mup.1_Missense_Mutation_p.P494R|UTP14A_uc011muq.1_Missense_Mutation_p.P492R	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	546					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						AATAATCGCCCTGATGCCCCT	0.478		NaN											0	0	0	0.139131	0	165	163				
MAGEC1	9947	broad.mit.edu	37	X	140995585	140995585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:140995585C>T	uc004fbt.2	+	4	2681	c.2395C>T	c.(2395-2397)CAG>TAG	p.Q799*	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	799							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTCCTCC	0.567		NaN								HNSCC(15;0.026)			0	0	0	0.139131	0	204	343				
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:144337274G>A	uc004fcb.2	+	2	159	c.159G>A	c.(157-159)GCG>GCA	p.A53A		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	53											0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433		NaN											0	0	0	0.139131	0	88	129				
UBL4A	8266	broad.mit.edu	37	X	153713943	153713943	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chrX:153713943G>A	uc004flo.2	-	4	418	c.409C>T	c.(409-411)CGG>TGG	p.R137W		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	137					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCAACCGTTCGATGTCG	0.602		NaN											0	0	0	0.139131	0	45	223				
PRDM2	7799	broad.mit.edu	37	1	14107286	14107286	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:14107286C>A	uc001avi.2	+	8	3852	c.2996C>A	c.(2995-2997)TCT>TAT	p.S999Y	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S999Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S798Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	999	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCCCCCTCTTCCAGTGCA	0.607		NaN											1	0	5.34484e-38	0.01441	6.14407e-38	94	67				
UBR4	23352	broad.mit.edu	37	1	19475090	19475090	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:19475090T>A	uc001bbi.2	-	50	7465	c.7461A>T	c.(7459-7461)GAA>GAT	p.E2487D	UBR4_uc001bbk.1_Missense_Mutation_p.E141D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2487					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAAGCAGCTTTCCAGGGCTT	0.512		NaN											0	0	0	0.01441	0	134	119				
CSMD2	114784	broad.mit.edu	37	1	34076828	34076828	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:34076828G>C	uc001bxn.1	-	41	6065	c.6036C>G	c.(6034-6036)AAC>AAG	p.N2012K	CSMD2_uc001bxm.1_Missense_Mutation_p.N2052K|CSMD2_uc001bxo.1_Missense_Mutation_p.N925K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2012	CUB 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGAGAAGTTCAGGAACT	0.547		NaN											0	0	0	0.004007	0	15	30				
RIMS3	9783	broad.mit.edu	37	1	41101622	41101622	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:41101622C>T	uc001cfu.1	-	4	794	c.325G>A	c.(325-327)GAT>AAT	p.D109N	RIMS3_uc001cfv.1_Missense_Mutation_p.D109N	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	109					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGCTCCCATCGGTGGACTCC	0.682		NaN											0	0	0	0.01441	0	81	44				
GLIS1	148979	broad.mit.edu	37	1	53986418	53986418	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:53986418C>T	uc001cvr.1	-	6	1657	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	364					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACGTCGGCCTCGGTGTCAGGG	0.662		NaN											0	0	0	0.001855	0	13	21				
TGFBR3	7049	broad.mit.edu	37	1	92185658	92185658	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:92185658G>A	uc001doh.2	-	9	1671	c.1205C>T	c.(1204-1206)CCG>CTG	p.P402L	TGFBR3_uc009wde.2_Missense_Mutation_p.P179L|TGFBR3_uc010osy.1_Missense_Mutation_p.P360L|TGFBR3_uc001doi.2_Missense_Mutation_p.P401L|TGFBR3_uc001doj.2_Missense_Mutation_p.P401L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	402	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAAGGAAACGGAAGGCCTCC	0.572		NaN											0	0	0	0.01441	0	67	56				
FLG	2312	broad.mit.edu	37	1	152279046	152279046	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:152279046G>T	uc001ezu.1	-	3	8352	c.8316C>A	c.(8314-8316)GAC>GAA	p.D2772E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2772	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCTGTCTTGTGCCT	0.597		NaN							Ichthyosis				1	0	5.87652e-79	0.01441	6.81899e-79	168	560				
SLC39A1	27173	broad.mit.edu	37	1	153932939	153932939	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:153932939G>A	uc001fdh.2	-	4	779	c.610C>T	c.(610-612)CGG>TGG	p.R204W	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdj.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdk.2_Missense_Mutation_p.R204W|SLC39A1_uc010pee.1_Missense_Mutation_p.R102W|SLC39A1_uc001fdl.2_Missense_Mutation_p.R204W	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	204	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCCCGAGCCCGGTCTCGCTGC	0.662		NaN											0	0	0	0.007835	0	41	35				
RXRG	6258	broad.mit.edu	37	1	165370612	165370612	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:165370612C>T	uc001gda.2	-	10	1580	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	427	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCCAATGGAACGCAGAGCTGG	0.602		NaN											0	0	0	0.00632	0	23	94				
DNM3	26052	broad.mit.edu	37	1	172017754	172017754	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:172017754C>T	uc001gie.2	+	10	1375	c.1199C>T	c.(1198-1200)ACA>ATA	p.T400I	DNM3_uc001gid.3_Missense_Mutation_p.T400I|DNM3_uc009wwb.2_Missense_Mutation_p.T400I|DNM3_uc001gif.2_Missense_Mutation_p.T400I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	400					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						ACCTTCAGGACAGGGTTGTTT	0.333		NaN											0	0	0	0.000602	0	5	25				
TNR	7143	broad.mit.edu	37	1	175355398	175355398	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:175355398G>A	uc001gkp.1	-	6	1628	c.1547C>T	c.(1546-1548)TCG>TTG	p.S516L	TNR_uc009wwu.1_Missense_Mutation_p.S516L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	516	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACAGTGTCCGAGACATCGCG	0.512		NaN											0	0	0	0.00245	0	12	57				
KIF21B	23046	broad.mit.edu	37	1	200968596	200968596	+	Splice_Site	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:200968596T>C	uc001gvs.1	-	13	2085	c.1768_splice	c.e13-1	p.E590_splice	KIF21B_uc001gvr.1_Splice_Site_p.E590_splice|KIF21B_uc009wzl.1_Splice_Site_p.E590_splice|KIF21B_uc010ppn.1_Splice_Site_p.E590_splice	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TTCCTCCTCCTGGGCACCAGG	0.632		NaN											0	0	0	0.01441	0	95	35				
ACBD3	64746	broad.mit.edu	37	1	226340215	226340215	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340215C>T	uc001hpy.2	-	7	1243	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	399	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CACTTCTCCTCGGCCCACTGT	0.463		NaN											0	0	0	0.01441	0	135	225				
ACBD3	64746	broad.mit.edu	37	1	226340229	226340229	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340229C>T	uc001hpy.2	-	7	1229	c.1182G>A	c.(1180-1182)GTG>GTA	p.V394V		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	394	GOLD.			KEKIQQDADSVITV -> QREDSAGCRFRDYS (in Ref. 2).	steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CCACTGTAATCACGGAATCTG	0.453		NaN											0	0	0	0.01441	0	141	249				
PHRF1	57661	broad.mit.edu	37	11	607297	607297	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:607297G>A	uc001lqe.2	+	14	1972	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	PHRF1_uc010qwc.1_Missense_Mutation_p.R613Q|PHRF1_uc010qwd.1_Missense_Mutation_p.R612Q|PHRF1_uc010qwe.1_Missense_Mutation_p.R610Q|PHRF1_uc009ybz.1_Missense_Mutation_p.R404Q|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614							RNA polymerase binding|zinc ion binding				0						GTTCAGGCTCGGAACTTGTCA	0.667		NaN											0	0	0	0.01441	0	44	137				
PLCB3	5331	broad.mit.edu	37	11	64035013	64035013	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64035013G>A	uc001nzb.2	+	31	3690	c.3690G>A	c.(3688-3690)GAG>GAA	p.E1230E	PLCB3_uc009ypg.1_Silent_p.E1230E|PLCB3_uc009yph.1_Silent_p.E1163E|PLCB3_uc009ypi.2_Silent_p.E1230E|GPR137_uc009ypj.1_5'Flank	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1230					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCCAGGAGGAGAACACGCAGC	0.652		NaN											0	0	0	0.004482	0	8	3				
PYGM	5837	broad.mit.edu	37	11	64525784	64525784	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64525784G>A	uc001oax.3	-	4	1279	c.462C>T	c.(460-462)GCC>GCT	p.A154A	PYGM_uc001oay.3_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	154					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	AGCCATAGGCGGCCAGGCCCA	0.602		NaN											0	0	0	0.01441	0	122	42				
ANKRD49	54851	broad.mit.edu	37	11	94231644	94231644	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:94231644T>C	uc001pew.2	+	3	805	c.666T>C	c.(664-666)TAT>TAC	p.Y222Y	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	222					positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGTATCTATCACTACCTCT	0.398		NaN											0	0	0	0.011902	0	41	64				
PPP2R1B	5519	broad.mit.edu	37	11	111614171	111614171	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:111614171C>T	uc001plx.1	-	12	1567	c.1483G>A	c.(1483-1485)GTT>ATT	p.V495I	PPP2R1B_uc001plw.1_Missense_Mutation_p.V495I|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V431I|PPP2R1B_uc010rwj.1_Missense_Mutation_p.V334I|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V450I|PPP2R1B_uc010rwl.1_Missense_Mutation_p.V368I	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	495	HEAT 13.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTTTGGGAACAATAGTATTT	0.383		NaN											0	0	0	0.00245	0	13	168				
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:121039497G>C	uc010rzo.1	+	19	5862	c.5862G>C	c.(5860-5862)ACG>ACC	p.T1954T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1954	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483		NaN											0	0	0	0.00333	0	25	63				
A2ML1	144568	broad.mit.edu	37	12	9006743	9006743	+	Silent	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:9006743T>A	uc001quz.3	+	21	2708	c.2610T>A	c.(2608-2610)ATT>ATA	p.I870I	A2ML1_uc001qva.1_Silent_p.I450I|A2ML1_uc010sgm.1_Silent_p.I370I	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	714						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ACTTTACTATTAGTACAAAGA	0.458		NaN											0	0	0	0.013537	0	13	39				
KRT74	121391	broad.mit.edu	37	12	52962081	52962081	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:52962081G>A	uc001sap.1	-	7	1275	c.1227C>T	c.(1225-1227)GGC>GGT	p.G409G		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	409	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTGCAGGGCGCCCTCCAGCT	0.652		NaN											0	0	0	0.00874	0	35	113				
HSP90B1	7184	broad.mit.edu	37	12	104326676	104326676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:104326676G>A	uc001tkb.1	+	4	472	c.367G>A	c.(367-369)GAA>AAA	p.E123K	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.E123K|LOC253724_uc010swf.1_5'Flank|LOC253724_uc009zuh.2_5'Flank	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	123					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	ACTGACTGATGAAAATGCTCT	0.343		NaN											0	0	0	0.01441	0	87	110				
RCBTB1	55213	broad.mit.edu	37	13	50129739	50129739	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr13:50129739C>T	uc001vde.1	-	6	776	c.515G>A	c.(514-516)CGA>CAA	p.R172Q		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	172	RCC1 3.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTAACTTTTCGAGGAGTTGG	0.443		NaN											0	0	0	0.004007	0	16	35				
SNW1	22938	broad.mit.edu	37	14	78184464	78184464	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr14:78184464G>A	uc001xuf.2	-	14	1605	c.1578C>T	c.(1576-1578)CAC>CAT	p.H526H	SNW1_uc010tvm.1_Silent_p.H451H|SNW1_uc010asu.2_Silent_p.H364H|SNW1_uc010tvn.1_Missense_Mutation_p.T553M	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	526					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTCATGCTCGTGTTCCTTGG	0.468		NaN											0	0	0	0.01441	0	100	182				
ATP2A1	487	broad.mit.edu	37	16	28913653	28913653	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:28913653C>T	uc002dro.1	+	17	2654	c.2470C>T	c.(2470-2472)CCC>TCC	p.P824S	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P824S|ATP2A1_uc002drp.1_Missense_Mutation_p.P699S	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	824	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCCGGAGCCCCAAGGAGCC	0.647		NaN											0	0	0	0.01441	0	51	631				
RPGRIP1L	23322	broad.mit.edu	37	16	53679568	53679568	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:53679568C>T	uc002ehp.2	-	17	2716	c.2652G>A	c.(2650-2652)CTG>CTA	p.L884L	RPGRIP1L_uc002eho.3_Silent_p.L884L|RPGRIP1L_uc010vgy.1_Silent_p.L884L|RPGRIP1L_uc010cbx.2_Silent_p.L884L|RPGRIP1L_uc010vgz.1_Silent_p.L884L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	884					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CCAACGAAATCAGAGGCACAT	0.333		NaN											0	0	0	0.012213	0	34	70				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:7577568C>A	uc002gim.2	-	7	907	c.713G>T	c.(712-714)TGT>TTT	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	238	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	1.77791e-30	0.01441	2.02485e-30	60	8		Valid		
TP53I13	90313	broad.mit.edu	37	17	27899299	27899299	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:27899299C>G	uc002hee.2	+	6	691	c.653C>G	c.(652-654)TCA>TGA	p.S218*		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	218	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CCCACTCGCTCAGCCCTGAGG	0.637		NaN											0	0	0	0.01441	0	55	13				
CASKIN2	57513	broad.mit.edu	37	17	73498739	73498739	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:73498739G>A	uc002joc.2	-	18	2966	c.2416C>T	c.(2416-2418)CCC>TCC	p.P806S	CASKIN2_uc010wsc.1_Missense_Mutation_p.P724S	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	806	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCTGTGGGGCCAGGGCGG	0.701		NaN											0	0	0	0.009096	0	4	44				
CCDC57	284001	broad.mit.edu	37	17	80059594	80059594	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:80059594C>G	uc002kdx.1	-	17	2749	c.2712G>C	c.(2710-2712)AGG>AGC	p.R904S		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	905										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCTTGGGGGGCCTCTGGCAGC	0.612		NaN											0	0	0	0.01441	0	210	45				
SETBP1	26040	broad.mit.edu	37	18	42530725	42530725	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr18:42530725G>A	uc010dni.2	+	4	1716	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	474						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATAGAGAATGAGTCCCCCTC	0.483		NaN							Schinzel-Giedion_syndrome				0	0	0	0.01441	0	66	27				
HDGFRP2	84717	broad.mit.edu	37	19	4499523	4499523	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:4499523G>A	uc002mao.2	+	14	1704	c.1611G>A	c.(1609-1611)GAG>GAA	p.E537E	HDGFRP2_uc002map.2_Silent_p.E537E|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Silent_p.E2E|HDGFRP2_uc002maq.1_Silent_p.E2E	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	537	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						ACGTAATGGAGAAGGCAGCAG	0.463		NaN											0	0	0	0.004482	0	9	47				
PRR22	163154	broad.mit.edu	37	19	5783026	5783026	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:5783026G>A	uc002mdb.1	-	1	1585	c.1226C>T	c.(1225-1227)CCG>CTG	p.P409L	PRR22_uc010xiv.1_Missense_Mutation_p.P411L	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	409											0						CCTGGGCCCCGGGGGAGTGGC	0.667		NaN											0	0	0	0.004482	0	6	11				
C19orf39	126074	broad.mit.edu	37	19	11486191	11486191	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:11486191G>A	uc002mrg.1	+	2	226	c.189G>A	c.(187-189)AAG>AAA	p.K63K		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	hypothetical protein LOC126074	63											0						CCTTCTAGAAGATCCGCTTCC	0.582		NaN											0	0	0	0.01441	0	99	308				
ANO8	57719	broad.mit.edu	37	19	17440975	17440975	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:17440975G>T	uc002ngf.2	-	10	1391	c.1232C>A	c.(1231-1233)GCC>GAC	p.A411D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	411	Helical; (Potential).|Leu-rich.					chloride channel complex	chloride channel activity			ovary(3)	3						GTAGCCCTCGGCACTCACACT	0.627		NaN											1	0	4.7796e-09	0.004656	5.1121e-09	26	78				
ZNF461	92283	broad.mit.edu	37	19	37147421	37147421	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37147421A>G	uc002oem.2	-	4	389	c.161T>C	c.(160-162)GTA>GCA	p.V54A	ZNF461_uc002oen.2_Missense_Mutation_p.V23A|ZNF461_uc010xtj.1_Missense_Mutation_p.V54A	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGGAGATTACGGCTGGCTT	0.433		NaN											0	0	0	0.004672	0	3	67				
ZNF567	163081	broad.mit.edu	37	19	37210842	37210842	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37210842G>T	uc010xtl.1	+	6	1438	c.1216G>T	c.(1216-1218)GCA>TCA	p.A406S	ZNF567_uc002oeo.1_Missense_Mutation_p.A406S|ZNF567_uc010xtk.1_Missense_Mutation_p.A406S|ZNF567_uc002oep.3_Missense_Mutation_p.A375S|ZNF567_uc002oeq.1_Missense_Mutation_p.A375S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	406	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACCAGAAGGCAAATCTTAC	0.433		NaN											1	0	2.48551e-13	0.00499	2.68173e-13	17	56				
SULT2B1	6820	broad.mit.edu	37	19	49055556	49055556	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:49055556A>T	uc002pjl.2	+	1	128	c.47A>T	c.(46-48)TAT>TTT	p.Y16F		NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	16				Missing: Increases the cholesterol sulfotransferase activity.|Missing: Loss of the cholesterol sulfotransferase activity.	3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGGGACACCTATGAAGATGAC	0.672		NaN											0	0	0	0.010504	0	18	34				
KLK5	25818	broad.mit.edu	37	19	51453127	51453127	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:51453127C>T	uc002pue.2	-	4	537	c.319G>A	c.(319-321)GCC>ACC	p.A107T	KLK5_uc002puf.2_Missense_Mutation_p.A107T|KLK5_uc002pug.2_Missense_Mutation_p.A107T	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	107	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTGCAGTGGGCGGCCGTGAGC	0.512		NaN											0	0	0	0.010771	0	40	11				
SAPS1	22870	broad.mit.edu	37	19	55758320	55758320	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:55758320G>A	uc002qjw.3	-	2	394	c.152C>T	c.(151-153)CCA>CTA	p.P51L	SAPS1_uc002qjv.2_Missense_Mutation_p.P113L	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	51	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CAGGTGGGGTGGCTGCAGCAG	0.657		NaN											0	0	0	0.010504	0	19	30				
MYT1L	23040	broad.mit.edu	37	2	1983502	1983502	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:1983502C>T	uc002qxe.2	-	6	875	c.48G>A	c.(46-48)GGG>GGA	p.G16G	MYT1L_uc002qxd.2_Silent_p.G16G|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	16					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCGAACCCCTTTGGACC	0.597		NaN											0	0	0	0.006214	0	9	65				
CTNNA2	1496	broad.mit.edu	37	2	79971689	79971689	+	Silent	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:79971689A>T	uc010ysh.1	+	2	284	c.279A>T	c.(277-279)GTA>GTT	p.V93V	CTNNA2_uc010yse.1_Silent_p.V93V|CTNNA2_uc010ysf.1_Silent_p.V93V|CTNNA2_uc010ysg.1_Silent_p.V93V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	93					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGGCTGCTGTAGAGGATGTGC	0.428		NaN											0	0	0	0.012319	0	22	16				
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:167162315C>T	uc010fpl.2	-	5	924	c.583G>A	c.(583-585)GTC>ATC	p.V195I	SCN9A_uc002udr.1_Missense_Mutation_p.V66I|SCN9A_uc002uds.1_Missense_Mutation_p.V66I|SCN9A_uc002udt.1_Missense_Mutation_p.V66I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	195	Helical; Name=S3 of repeat I; (Potential).|I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(1)		ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398		NaN											0	0	0	0.00632	0	27	69				
DNAH7	56171	broad.mit.edu	37	2	196865506	196865506	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:196865506G>A	uc002utj.3	-	12	1376	c.1275C>T	c.(1273-1275)ATC>ATT	p.I425I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	425	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CATTTAGAAAGATATCTATAT	0.343		NaN											0	0	0	0.01441	0	158	150				
IKZF2	22807	broad.mit.edu	37	2	213872344	213872344	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:213872344C>A	uc002vem.2	-	8	1490	c.1321G>T	c.(1321-1323)GTC>TTC	p.V441F	IKZF2_uc010fuu.2_Missense_Mutation_p.V296F|IKZF2_uc002vej.2_Missense_Mutation_p.V388F|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.V367F|IKZF2_uc002vel.2_Missense_Mutation_p.V362F|IKZF2_uc010fuw.2_Missense_Mutation_p.V215F|IKZF2_uc010fux.2_Missense_Mutation_p.V215F|IKZF2_uc010fuy.2_Missense_Mutation_p.V369F|IKZF2_uc002ven.2_Missense_Mutation_p.V415F|IKZF2_uc002vei.2_Missense_Mutation_p.V219F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAAGCTTTGACATCCTCCTTC	0.483		NaN											1	0	1.12685e-05	0.004482	1.18464e-05	9	63				
IFNGR2	3460	broad.mit.edu	37	21	34805103	34805103	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:34805103C>A	uc002yrp.3	+	6	1452	c.804C>A	c.(802-804)TTC>TTA	p.F268L	IFNGR2_uc002yrq.3_Missense_Mutation_p.F287L|IFNGR2_uc010gma.2_Missense_Mutation_p.F189L|IFNGR2_uc002yrr.3_Missense_Mutation_p.F189L|TMEM50B_uc002yrs.1_RNA	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	268	Helical; (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	CCTGTTTCTTCCTGGTCCTGA	0.468		NaN											1	0	1.62957e-23	0.00874	1.82216e-23	45	85				
SLC19A1	6573	broad.mit.edu	37	21	46951334	46951334	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:46951334G>A	uc002zhl.1	-	3	1037	c.918C>T	c.(916-918)AAC>AAT	p.N306N	SLC19A1_uc010gpy.1_Silent_p.N306N|SLC19A1_uc011aft.1_Silent_p.N266N|SLC19A1_uc002zhm.1_Silent_p.N306N|SLC19A1_uc010gpz.1_Silent_p.N185N	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	306	Extracellular (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CTGCCGCGCCGTTGTAGACCC	0.662		NaN											0	0	0	0.004878	0	34	103				
C22orf24	25775	broad.mit.edu	37	22	32334024	32334024	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:32334024A>G	uc003aly.2	-	2	196	c.29T>C	c.(28-30)CTG>CCG	p.L10P	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	10						integral to membrane				central_nervous_system(1)	1						CTTTTGATGCAGCCCTGTTGT	0.378		NaN											0	0	0	0.01441	0	124	348				
TST	7263	broad.mit.edu	37	22	37414345	37414345	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:37414345G>A	uc003aqg.2	-	1	1129	c.429C>T	c.(427-429)TCC>TCT	p.S143S	TST_uc003aqh.2_Silent_p.S143S|MPST_uc003aqi.1_5'Flank|MPST_uc003aqj.2_5'Flank|MPST_uc003aqm.2_5'Flank|MPST_uc011amu.1_5'Flank|MPST_uc003aql.2_5'Flank	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	143	Rhodanese 1.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						GTGAGGGCTCGGATGTCACCG	0.607		NaN											0	0	0	0.00278	0	25	71				
HRH1	3269	broad.mit.edu	37	3	11301151	11301151	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:11301151G>A	uc010hdr.2	+	2	770	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	HRH1_uc010hds.2_Missense_Mutation_p.R143Q|HRH1_uc010hdt.2_Missense_Mutation_p.R143Q|HRH1_uc003bwb.3_Missense_Mutation_p.R143Q	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	143	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCAAGACCCGAGCCTCGGCC	0.552		NaN											0	0	0	0.01441	0	51	187				
PRKCD	5580	broad.mit.edu	37	3	53213624	53213624	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:53213624G>A	uc003dgl.2	+	4	500	c.147G>A	c.(145-147)CCG>CCA	p.P49P	PRKCD_uc003dgm.2_Silent_p.P49P|PRKCD_uc003dgn.2_Silent_p.P49P	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	49	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGAAGAAGCCGACCATGTATC	0.592		NaN											0	0	0	0.010504	0	20	43				
ATXN7	6314	broad.mit.edu	37	3	63985136	63985136	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:63985136G>A	uc003dlw.3	+	13	3225	c.2672G>A	c.(2671-2673)CGT>CAT	p.R891H	ATXN7_uc010hnv.2_Silent_p.T913T|ATXN7_uc011bfn.1_Missense_Mutation_p.R746H	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	891				PKARP -> VGNGL (in Ref. 2; AAC39765/ AAC19163).	cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAAGGCACGTCCCTGACAG	0.448		NaN											0	0	0	0.00499	0	16	26				
CD200	4345	broad.mit.edu	37	3	112054803	112054803	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:112054803C>A	uc003dyw.2	+	2	170	c.26C>A	c.(25-27)ACA>AAA	p.T9K	CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	Error:Variant_position_missing_in_P41217_after_alignment					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTGACCAGGACAATTGGGGGC	0.274		NaN											1	0	8.58068e-18	0.007291	9.42343e-18	27	116				
C3orf30	152405	broad.mit.edu	37	3	118865565	118865565	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:118865565C>G	uc003ecb.1	+	1	569	c.529C>G	c.(529-531)CAG>GAG	p.Q177E	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q177E	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	177										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		AGGTTCCAGACAGACCGACCA	0.527		NaN											0	0	0	0.01441	0	38	79				
SI	6476	broad.mit.edu	37	3	164786928	164786928	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:164786928G>C	uc003fei.2	-	4	373	c.311C>G	c.(310-312)CCT>CGT	p.P104R		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	104	Lumenal.|P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGCACCAAGGAATAAGAGA	0.343		NaN								HNSCC(35;0.089)			0	0	0	0.012213	0	34	71				
EIF4A2	1974	broad.mit.edu	37	3	186501413	186501413	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:186501413C>T	uc003fqs.2	+	1	53	c.14C>T	c.(13-15)TCC>TTC	p.S5F	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.S5F|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	5					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCTGGTGGCTCCGCGGATTAT	0.562		NaN	T	BCL6	NHL								0	0	0	0.01441	0	81	184				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195505836G>C	uc011bto.1	-	3	12691	c.12231C>G	c.(12229-12231)CAC>CAG	p.H4077Q	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597		NaN											0	0	0	0.008291	0	9	7				
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195511815G>A	uc011bto.1	-	2	7096	c.6636C>T	c.(6634-6636)ACC>ACT	p.T2212T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602		NaN											0	0	0	0.004672	0	3	5				
RGS12	6002	broad.mit.edu	37	4	3425321	3425321	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:3425321G>A	uc003ggw.2	+	13	4091	c.3187G>A	c.(3187-3189)GTG>ATG	p.V1063M	RGS12_uc003ggv.2_Missense_Mutation_p.V1063M|RGS12_uc003ggy.1_Missense_Mutation_p.V461M|RGS12_uc003ggz.2_Missense_Mutation_p.V415M|RGS12_uc010icu.1_Missense_Mutation_p.V262M|RGS12_uc011bvs.1_Missense_Mutation_p.V405M|RGS12_uc003gha.2_Missense_Mutation_p.V405M|RGS12_uc010icv.2_Missense_Mutation_p.V262M|RGS12_uc003ghb.2_Missense_Mutation_p.V262M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1063	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCGGCCCGTGGTGGCCAG	0.632		NaN											0	0	0	0.004289	0	35	93				
TMPRSS11F	389208	broad.mit.edu	37	4	68964665	68964665	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:68964665A>G	uc003hdt.1	-	2	152	c.103T>C	c.(103-105)TTA>CTA	p.L35L		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	35	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						ACAATTGCTAATGTGAAAAGA	0.388		NaN											0	0	0	0.004672	0	3	14				
FRAS1	80144	broad.mit.edu	37	4	79429990	79429990	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:79429990C>T	uc003hlb.2	+	63	10050	c.9610C>T	c.(9610-9612)CCT>TCT	p.P3204S	FRAS1_uc003hlc.1_Missense_Mutation_p.P206S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3199	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CCCCTGCGACCCTCATTTCCC	0.567		NaN											0	0	0	0.008291	0	11	15				
RG9MTD2	93587	broad.mit.edu	37	4	100479211	100479211	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:100479211A>G	uc003huy.2	-	3	656	c.343T>C	c.(343-345)TTA>CTA	p.L115L	RG9MTD2_uc003huz.3_Silent_p.L115L|RG9MTD2_uc003hva.3_Silent_p.L115L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	115							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GATACCTTTAATACCATCAAG	0.328		NaN											0	0	0	0.001855	0	10	18				
UGT8	7368	broad.mit.edu	37	4	115597250	115597250	+	Missense_Mutation	SNP	G	G	T	rs77695673		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:115597250G>T	uc003ibs.2	+	6	1954	c.1432G>T	c.(1432-1434)GCC>TCC	p.A478S	UGT8_uc003ibt.2_Missense_Mutation_p.A478S|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	478	Helical; (Potential).				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ACTGGATATTGCCTTTGTGCT	0.373		NaN											1	0	7.34454e-26	0.01441	8.28788e-26	50	83				
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633926	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:6633926C>T	uc003jdw.2	+	1	427	c.237C>T	c.(235-237)CTC>CTT	p.L79L	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.S88F	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	79					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	CCCCGCGTCTCCGCAGCGCGC	0.736		NaN											0	0	0	0.006122	0	16	157				
MARVELD2	153562	broad.mit.edu	37	5	68737477	68737477	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:68737477C>G	uc003jwq.2	+	7	1732	c.1673C>G	c.(1672-1674)TCT>TGT	p.S558C	MARVELD2_uc010ixf.2_Missense_Mutation_p.S546C|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	558	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAAGGTTATTCTTAACGCTTA	0.179		NaN											0	0	0	0.004656	0	24	34				
PDGFRB	5159	broad.mit.edu	37	5	149515232	149515232	+	Missense_Mutation	SNP	C	C	T	rs80162387	by1000genomes	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:149515232C>T	uc003lro.2	-	3	719	c.250G>A	c.(250-252)GTG>ATG	p.V84M	PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.V84M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	84	Extracellular (Potential).|Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTGAGCACGCTGGAGAAG	0.597		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								0	0	0	0.004482	0	8	102				
FAM136B	387071	broad.mit.edu	37	6	3045879	3045879	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:3045879G>A	uc011dhr.1	+	1	262	c.262G>A	c.(262-264)GAC>AAC	p.D88N		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCATTGCAATGACAAAGCCAA	0.547		NaN											0	0	0	0.009718	0	41	106				
KIF13A	63971	broad.mit.edu	37	6	17777555	17777555	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:17777555T>C	uc003ncg.3	-	34	4228	c.4123A>G	c.(4123-4125)AAA>GAA	p.K1375E	KIF13A_uc003ncf.2_Missense_Mutation_p.K1362E|KIF13A_uc003nch.3_Missense_Mutation_p.K1375E|KIF13A_uc003nci.3_Missense_Mutation_p.K1362E|KIF13A_uc003nce.1_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1375					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGCCGGGCTTTGGTGGAAAGT	0.368		NaN											0	0	0	0.010729	0	10	33				
CUL9	23113	broad.mit.edu	37	6	43156294	43156294	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:43156294G>A	uc003ouk.2	+	8	2096	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.R674H|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	674					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCCGGTCCTCGCAGCTCCCTG	0.542		NaN											0	0	0	0.01441	0	53	43				
HSP90AB1	3326	broad.mit.edu	37	6	44216418	44216418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:44216418C>T	uc003oxa.1	+	2	136	c.52C>T	c.(52-54)CAG>TAG	p.Q18*	HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	18					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.Q18*(1)		lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423		NaN											0	0	0	0.01441	0	91	209				
ME1	4199	broad.mit.edu	37	6	83963391	83963391	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:83963391G>T	uc003pjy.2	-	7	877	c.771C>A	c.(769-771)AAC>AAA	p.N257K	ME1_uc011dzb.1_Missense_Mutation_p.N182K|ME1_uc011dzc.1_Missense_Mutation_p.N91K	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	257					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCGATACTTGTTCAGGAGAC	0.328		NaN											1	0	2.00529e-23	0.00333	2.22208e-23	21	89				
AKD1	221264	broad.mit.edu	37	6	109980580	109980580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:109980580G>A	uc003ptn.2	-	7	558	c.481C>T	c.(481-483)CAA>TAA	p.Q161*	AKD1_uc003ptr.3_Nonsense_Mutation_p.Q161*|AKD1_uc003pts.1_RNA	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	161					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TGCTGTCTTTGCCCAGAAATT	0.303		NaN											0	0	0	0.00623	0	35	39				
GPR126	57211	broad.mit.edu	37	6	142691909	142691909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:142691909G>C	uc010khc.2	+	4	1459	c.1048G>C	c.(1048-1050)GCT>CCT	p.A350P	GPR126_uc010khd.2_Missense_Mutation_p.A350P|GPR126_uc010khe.2_Missense_Mutation_p.A350P|GPR126_uc010khf.2_Missense_Mutation_p.A350P|GPR126_uc003qix.2_Missense_Mutation_p.A350P	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	350	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCTCTGAAAGCTGAAAGCAA	0.358		NaN											0	0	0	0.009096	0	3	48				
TAB2	23118	broad.mit.edu	37	6	149700178	149700178	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:149700178C>T	uc003qmj.2	+	3	1305	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	TAB2_uc011eec.1_Missense_Mutation_p.T344M|TAB2_uc010kia.1_Missense_Mutation_p.T376M|TAB2_uc010kib.1_Missense_Mutation_p.T376M|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	376					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CCCCCAAATACGGATGAGCTG	0.493		NaN											0	0	0	0.00333	0	26	60				
FOXK1	221937	broad.mit.edu	37	7	4794201	4794201	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:4794201C>T	uc003snc.1	+	3	868	c.858C>T	c.(856-858)GCC>GCT	p.A286A	FOXK1_uc003sna.1_Silent_p.A123A|FOXK1_uc003snb.1_Silent_p.A286A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	286					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCAAAGGCCGCGTCGGAGC	0.657		NaN											0	0	0	0.010729	0	11	59				
DNAH11	8701	broad.mit.edu	37	7	21826264	21826264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:21826264C>G	uc003svc.2	+	60	9672	c.9641C>G	c.(9640-9642)GCC>GGC	p.A3214G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3214	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAGCTGAAAGCCTTTCCCAAC	0.512		NaN							Kartagener_syndrome				0	0	0	0.006214	0	9	96				
HECW1	23072	broad.mit.edu	37	7	43484652	43484652	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:43484652G>A	uc003tid.1	+	11	2486	c.1881G>A	c.(1879-1881)ACG>ACA	p.T627T	HECW1_uc011kbi.1_Silent_p.T627T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	627					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTCCAGGCACGGCGCACCCTG	0.706		NaN											0	0	0	0.008291	0	11	20				
FBXO24	26261	broad.mit.edu	37	7	100187841	100187841	+	Silent	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100187841C>G	uc003uvm.1	+	3	476	c.183C>G	c.(181-183)GCC>GCG	p.A61A	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.A61A|FBXO24_uc003uvn.1_Intron|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.A99A|FBXO24_uc011kka.1_Silent_p.A49A	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	61	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTTGTTGCCCTCGGCCAGA	0.607		NaN											0	0	0	0.01441	0	64	31				
ACHE	43	broad.mit.edu	37	7	100491616	100491616	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100491616G>A	uc003uxd.2	-	1	394	c.238C>T	c.(238-240)CCA>TCA	p.P80S	ACHE_uc003uxe.2_Missense_Mutation_p.P80S|ACHE_uc003uxf.2_Missense_Mutation_p.P80S|ACHE_uc003uxg.2_Missense_Mutation_p.P80S|ACHE_uc003uxh.2_Missense_Mutation_p.P80S|ACHE_uc003uxi.2_Missense_Mutation_p.P80S|ACHE_uc003uxj.1_Missense_Mutation_p.P199S	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	80					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCTCCGGTGGCAGAAAGCGA	0.627		NaN											0	0	0	0.005443	0	28	146				
ORAI2	80228	broad.mit.edu	37	7	102087006	102087006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:102087006G>A	uc010lhz.1	+	4	507	c.272G>A	c.(271-273)CGG>CAG	p.R91Q	ORAI2_uc003uzj.2_Missense_Mutation_p.R91Q|ORAI2_uc003uzk.2_Missense_Mutation_p.R91Q|ORAI2_uc011kks.1_Missense_Mutation_p.R14Q	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	91						integral to membrane	protein binding			ovary(1)|kidney(1)	2						CAGTACCCGCGGCCGCTGCTG	0.662		NaN											0	0	0	0.014323	0	17	72				
DDHD2	23259	broad.mit.edu	37	8	38095117	38095117	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:38095117G>A	uc003xlb.2	+	4	850	c.473G>A	c.(472-474)AGA>AAA	p.R158K	DDHD2_uc003xla.2_Missense_Mutation_p.R158K|DDHD2_uc003xlc.2_Missense_Mutation_p.R158K|DDHD2_uc011lbl.1_Silent_p.Q10Q	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	158					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTCCCAACAGAGAAATTATT	0.333		NaN											0	0	0	0.006122	0	16	57				
KCNB2	9312	broad.mit.edu	37	8	73480335	73480335	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:73480335A>G	uc003xzb.2	+	2	954	c.366A>G	c.(364-366)GAA>GAG	p.E122E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	122	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTGGCCAAGAACTTGATTACT	0.448		NaN											0	0	0	0.004878	0	37	120				
ZFHX4	79776	broad.mit.edu	37	8	77776411	77776411	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:77776411T>C	uc003yav.2	+	11	10713	c.10326T>C	c.(10324-10326)GTT>GTC	p.V3442V		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3438						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGAGCATGTTAGATTATTAC	0.433		NaN								HNSCC(33;0.089)			0	0	0	0.001168	0	6	24				
POU5F1B	5462	broad.mit.edu	37	8	128429170	128429170	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:128429170C>T	uc003ysf.2	+	1	1314	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G	uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	353						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCACTCTGGGCTCTCCCATGC	0.577		NaN											0	0	0	0.001855	0	12	14				
COL22A1	169044	broad.mit.edu	37	8	139734291	139734291	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:139734291C>T	uc003yvd.2	-	26	2736	c.2289G>A	c.(2287-2289)CCG>CCA	p.P763P	COL22A1_uc011ljo.1_Silent_p.P63P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	763	Collagen-like 5.|Pro-rich.|Gly-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).	cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTTCCTGGCGGACCTGGTG	0.478		NaN								HNSCC(7;0.00092)			0	0	0	0.00308	0	7	17				
SETX	23064	broad.mit.edu	37	9	135205856	135205856	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr9:135205856C>A	uc004cbk.2	-	10	1312	c.1129G>T	c.(1129-1131)GAT>TAT	p.D377Y	SETX_uc004cbj.2_5'UTR|SETX_uc010mzt.2_5'UTR	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	377					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGACAATAATCTGGGCAAATG	0.388		NaN											1	0	1.68575e-08	0.007291	1.78748e-08	29	14				
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:22291957G>A	uc004dai.1	+	1	898	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						AGCATTATGCGCCACCTCCAT	0.473		NaN											0	0	0	0.01441	0	69	20				
FLNA	2316	broad.mit.edu	37	X	153592464	153592464	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:153592464C>T	uc004fkk.2	-	15	2455	c.2206G>A	c.(2206-2208)GTG>ATG	p.V736M	FLNA_uc010nuu.1_Missense_Mutation_p.V736M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	736	Filamin 5.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTGGGCACGTAGGAGCAG	0.612		NaN											0	0	0	0.01441	0	73	18				
NOC2L	26155	broad.mit.edu	37	1	880485	880485	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:880485C>T	uc001abz.3	-	18	2154	c.2095G>A	c.(2095-2097)GAT>AAT	p.D699N	NOC2L_uc001aby.3_Missense_Mutation_p.D496N|NOC2L_uc009vjq.2_Missense_Mutation_p.D699N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	699	Asp/Glu-rich (acidic).					nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		tcctcttcatcgtcttccacc	0.468		NaN											0	0	0	0.008291	0	9	13				
VWA1	64856	broad.mit.edu	37	1	1374667	1374667	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:1374667G>A	uc001afs.2	+	3	1058	c.838G>A	c.(838-840)GAC>AAC	p.D280N	VWA1_uc001afr.2_Missense_Mutation_p.D68N	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	280	Fibronectin type-III 1.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGACTACGACGTGGCGCT	0.741		NaN											0	0	0	0.009096	0	4	8				
TAS1R1	80835	broad.mit.edu	37	1	6634783	6634783	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:6634783G>A	uc001ant.2	+	3	591	c.591G>A	c.(589-591)GAG>GAA	p.E197E	TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.E197E	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	197	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCAGGTGGAGACCATGGTGC	0.587		NaN											0	0	0	0.004482	0	9	40				
TNFRSF8	943	broad.mit.edu	37	1	12164562	12164562	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:12164562C>T	uc001atq.2	+	4	617	c.395C>T	c.(394-396)CCG>CTG	p.P132L	TNFRSF8_uc010obc.1_Missense_Mutation_p.P21L	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	132	TNFR-Cys 3.|Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTCTGTCCGGCAGGGATG	0.577		NaN											0	0	0	0.008291	0	9	21				
FBLIM1	54751	broad.mit.edu	37	1	16111108	16111108	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16111108C>G	uc001axd.1	+	10	1517	c.1074C>G	c.(1072-1074)CTC>CTG	p.L358L	FBLIM1_uc001axe.1_Silent_p.L358L|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axh.1_Silent_p.L261L|FBLIM1_uc001axi.1_Silent_p.L261L	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	358	PLEKHC1-binding.|LIM zinc-binding 3.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACAACCATCTCTTCTGCAAGC	0.637		NaN											0	0	0	0.001984	0	6	75				
FBXO42	54455	broad.mit.edu	37	1	16641903	16641903	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16641903G>A	uc001ayg.2	-	2	227	c.11C>T	c.(10-12)TCC>TTC	p.S4F	FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S4F	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	4										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTGTCCGAGGAGCTGGCCAT	0.458		NaN											0	0	0	0.010729	0	10	65				
SPATA21	374955	broad.mit.edu	37	1	16727277	16727277	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16727277C>T	uc001ayn.2	-	11	1595	c.1112G>A	c.(1111-1113)AGC>AAC	p.S371N	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.S348N	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	371							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AACTTCTGAGCTCTCTTCTTG	0.592		NaN											0	0	0	0.004007	0	17	209				
HP1BP3	50809	broad.mit.edu	37	1	21103139	21103139	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:21103139C>T	uc001bdw.1	-	4	441	c.301G>A	c.(301-303)GAG>AAG	p.E101K	HP1BP3_uc001bdv.1_Missense_Mutation_p.E63K|HP1BP3_uc010odh.1_Missense_Mutation_p.E63K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E101K|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E100K|HP1BP3_uc001beb.2_Missense_Mutation_p.E101K	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	101					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTCATTCTCAGGTTCCCCC	0.403		NaN											0	0	0	0.01441	0	65	147				
CELA3A	10136	broad.mit.edu	37	1	22336318	22336318	+	Missense_Mutation	SNP	C	C	G	rs148724731		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:22336318C>G	uc001bfl.2	+	7	782	c.763C>G	c.(763-765)CGA>GGA	p.R255G		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	255	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						GGTGTTCACTCGAGTCTCCGC	0.592		NaN											0	0	0	0.013537	0	11	55				
ARID1A	8289	broad.mit.edu	37	1	27102121	27102121	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:27102121G>C	uc001bmv.1	+	19	5420	c.5047G>C	c.(5047-5049)GAG>CAG	p.E1683Q	ARID1A_uc001bmt.1_Missense_Mutation_p.E1682Q|ARID1A_uc001bmu.1_Missense_Mutation_p.E1466Q|ARID1A_uc001bmx.1_Missense_Mutation_p.E529Q|ARID1A_uc009vsm.1_Missense_Mutation_p.E11Q|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1683					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCCTGGCAGAGAGCACATG	0.522		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.001984	0	7	27		Valid		
SPOCD1	90853	broad.mit.edu	37	1	32280503	32280503	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32280503C>G	uc001bts.1	-	2	490	c.432G>C	c.(430-432)GAG>GAC	p.E144D	SPOCD1_uc001btu.2_Missense_Mutation_p.E144D|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	144					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGAGCTCTCTCTGGGAGGC	0.592		NaN											0	0	0	0.01441	0	36	92				
LCK	3932	broad.mit.edu	37	1	32742252	32742252	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32742252C>A	uc001bux.2	+	9	967	c.829C>A	c.(829-831)CAG>AAG	p.Q277K	LCK_uc001buy.2_Missense_Mutation_p.Q277K|LCK_uc001buz.2_Missense_Mutation_p.Q277K|LCK_uc010ohc.1_Missense_Mutation_p.Q321K|LCK_uc001bva.2_Missense_Mutation_p.Q284K	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	277	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GAGCCTGAAGCAGGGCAGCAT	0.637		NaN	T	TRB@	T-ALL								1	0	2.23348e-06	0.004007	2.37504e-06	16	58				
RNF220	55182	broad.mit.edu	37	1	45115332	45115332	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45115332G>A	uc001clv.1	+	13	1806	c.1446_splice	c.e13-1	p.K482_splice	RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CCTTTTTACAGAATCACCGAA	0.338		NaN											0	0	0	0.00308	0	8	124				
TMEM53	79639	broad.mit.edu	37	1	45120468	45120468	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45120468G>C	uc001cmc.2	-	3	633	c.597C>G	c.(595-597)TTC>TTG	p.F199L	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.F126L|TMEM53_uc009vxh.1_Missense_Mutation_p.F82L|TMEM53_uc010ola.1_Missense_Mutation_p.F82L	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	199						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GCCTGTCATAGAAGTGGGTGT	0.617		NaN											0	0	0	0.008291	0	10	41				
ZFYVE9	9372	broad.mit.edu	37	1	52704276	52704276	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704276C>T	uc001cto.2	+	4	1359	c.1187C>T	c.(1186-1188)TCT>TTT	p.S396F	ZFYVE9_uc001ctn.2_Missense_Mutation_p.S396F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S396F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	396					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TTCTCTGAATCTCAGGACATG	0.368		NaN											0	0	0	0.004656	0	25	126				
ZFYVE9	9372	broad.mit.edu	37	1	52704805	52704805	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704805C>T	uc001cto.2	+	4	1888	c.1716C>T	c.(1714-1716)ATC>ATT	p.I572I	ZFYVE9_uc001ctn.2_Silent_p.I572I|ZFYVE9_uc001ctp.2_Silent_p.I572I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	572					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TGCCATCTATCAGTGTTCCTT	0.393		NaN											0	0	0	0.003163	0	15	87				
ZFYVE9	9372	broad.mit.edu	37	1	52704876	52704876	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704876C>T	uc001cto.2	+	4	1959	c.1787C>T	c.(1786-1788)TCA>TTA	p.S596L	ZFYVE9_uc001ctn.2_Missense_Mutation_p.S596L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S596L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	596					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						AAGCCATTATCAGACCATTTA	0.378		NaN											0	0	0	0.010729	0	12	77				
ZFYVE9	9372	broad.mit.edu	37	1	52705008	52705008	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705008C>G	uc001cto.2	+	4	2091	c.1919C>G	c.(1918-1920)TCT>TGT	p.S640C	ZFYVE9_uc001ctn.2_Missense_Mutation_p.S640C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S640C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	640					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GGAAACATCTCTAATGTCGAT	0.378		NaN											0	0	0	0.003954	0	25	113				
ZFYVE9	9372	broad.mit.edu	37	1	52705108	52705108	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705108C>T	uc001cto.2	+	4	2191	c.2019C>T	c.(2017-2019)CTC>CTT	p.L673L	ZFYVE9_uc001ctn.2_Silent_p.L673L|ZFYVE9_uc001ctp.2_Silent_p.L673L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	673					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ATAATGATCTCAGAGCTGGTC	0.468		NaN											0	0	0	0.00278	0	21	126				
ZCCHC11	23318	broad.mit.edu	37	1	52940613	52940613	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940613G>T	uc001ctx.2	-	13	2852	c.2618C>A	c.(2617-2619)TCT>TAT	p.S873Y	ZCCHC11_uc001cty.2_Missense_Mutation_p.S873Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S873Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.S873Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S632Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.S873Y	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	873					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						GCAGTTGCAAGAGGTAGCAGA	0.413		NaN											1	0	1.58986e-06	0.008291	1.69461e-06	10	72				
ZCCHC11	23318	broad.mit.edu	37	1	52940833	52940833	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940833G>T	uc001ctx.2	-	13	2632	c.2398C>A	c.(2398-2400)CTT>ATT	p.L800I	ZCCHC11_uc001cty.2_Missense_Mutation_p.L800I|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L800I|ZCCHC11_uc009vze.1_Missense_Mutation_p.L800I|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L559I|ZCCHC11_uc001cub.2_Missense_Mutation_p.L800I	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	800					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CTGGTAGAAAGAGATGAAGAG	0.363		NaN											1	0	0.000308642	0.003163	0.000320676	13	218				
ZCCHC11	23318	broad.mit.edu	37	1	52940841	52940841	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940841G>C	uc001ctx.2	-	13	2624	c.2390C>G	c.(2389-2391)TCT>TGT	p.S797C	ZCCHC11_uc001cty.2_Missense_Mutation_p.S797C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S797C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S797C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S556C|ZCCHC11_uc001cub.2_Missense_Mutation_p.S797C	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	797					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AAGAGATGAAGAGTCCTGTCC	0.358		NaN											0	0	0	0.00245	0	13	225				
EXTL2	2135	broad.mit.edu	37	1	101339508	101339508	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:101339508C>G	uc001dtk.1	-	5	1320	c.983G>C	c.(982-984)AGA>ACA	p.R328T	EXTL2_uc001dtl.1_Missense_Mutation_p.R328T|EXTL2_uc010ouk.1_Missense_Mutation_p.R315T|EXTL2_uc001dtm.1_Missense_Mutation_p.R327T	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	328	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTATATTTTTCTTTTGTAGTT	0.299		NaN											0	0	0	0.010729	0	11	97				
MTMR11	10903	broad.mit.edu	37	1	149906110	149906110	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:149906110G>A	uc001etl.3	-	7	908	c.657C>T	c.(655-657)GTC>GTT	p.V219V	MTMR11_uc001etm.1_Silent_p.V147V|MTMR11_uc010pbm.1_Silent_p.V191V|MTMR11_uc010pbn.1_Silent_p.V61V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	219	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCTCGTTGACCGTGCTGA	0.572		NaN											0	0	0	0.010729	0	12	106				
PRPF3	9129	broad.mit.edu	37	1	150325402	150325402	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:150325402G>A	uc001eum.3	+	16	2161	c.1999G>A	c.(1999-2001)GAA>AAA	p.E667K	PRPF3_uc010pca.1_Missense_Mutation_p.E626K|PRPF3_uc010pcb.1_Missense_Mutation_p.E618K	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	667					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCATGGGGCTGAACACTACTG	0.488		NaN											0	0	0	0.008291	0	11	135				
TCHH	7062	broad.mit.edu	37	1	152082180	152082180	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152082180G>C	uc001ezp.2	-	2	3513	c.3513C>G	c.(3511-3513)CGC>CGG	p.R1171R	TCHH_uc009wne.1_Silent_p.R1171R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1171	4-9.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cctcttcctcGCGGTATTGCC	0.179		NaN											0	0	0	0.001984	0	6	55				
TCHH	7062	broad.mit.edu	37	1	152085383	152085383	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152085383C>T	uc001ezp.2	-	2	310	c.310G>A	c.(310-312)GAC>AAC	p.D104N	TCHH_uc009wne.1_Missense_Mutation_p.D104N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTCCGTCACACCGGGCT	0.522		NaN											0	0	0	0.010504	0	20	170				
FLG	2312	broad.mit.edu	37	1	152275916	152275916	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152275916C>G	uc001ezu.1	-	3	11482	c.11446G>C	c.(11446-11448)GAG>CAG	p.E3816Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3816	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCCTCATTACGTGTT	0.577		NaN							Ichthyosis				0	0	0	0.00308	0	8	612				
FLG	2312	broad.mit.edu	37	1	152285757	152285757	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152285757C>T	uc001ezu.1	-	3	1641	c.1605G>A	c.(1603-1605)TCG>TCA	p.S535S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATTTACCGATTGCTCGT	0.582		NaN							Ichthyosis				0	0	0	0.01441	0	89	479				
OR6K6	128371	broad.mit.edu	37	1	158724630	158724630	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158724630C>G	uc001fsw.1	+	1	25	c.25C>G	c.(25-27)CAA>GAA	p.Q9E		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					AGTGGGTAATCAACATTCCAA	0.393		NaN											0	0	0	0.010504	0	21	128				
MNDA	4332	broad.mit.edu	37	1	158813830	158813830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158813830G>A	uc001fsz.1	+	4	688	c.488G>A	c.(487-489)GGA>GAA	p.G163E		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	163					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GGTCCCTCAGGAGCCAGCACA	0.483		NaN											0	0	0	0.010729	0	10	143				
KIFAP3	22920	broad.mit.edu	37	1	169993598	169993598	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:169993598C>G	uc001ggv.2	-	9	1252	c.981G>C	c.(979-981)TTG>TTC	p.L327F	KIFAP3_uc010plx.1_Missense_Mutation_p.L29F	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	327					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGTTTCTTCAAGAATGACA	0.323		NaN											0	0	0	0.000602	0	4	103				
FMO3	2328	broad.mit.edu	37	1	171083188	171083188	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:171083188C>T	uc001ghi.2	+	7	980	c.869C>T	c.(868-870)GCA>GTA	p.A290V	FMO3_uc001ghh.2_Missense_Mutation_p.A290V|FMO3_uc010pmb.1_Missense_Mutation_p.A270V|FMO3_uc010pmc.1_Missense_Mutation_p.A227V	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	290					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGCTCCCAGCAAGCATTCTG	0.433		NaN											0	0	0	0.005443	0	26	61				
CEP350	9857	broad.mit.edu	37	1	179989859	179989859	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989859G>A	uc001gnt.2	+	12	3333	c.2950G>A	c.(2950-2952)GAA>AAA	p.E984K	CEP350_uc009wxl.2_Missense_Mutation_p.E983K|CEP350_uc001gnu.2_Missense_Mutation_p.E818K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	984						centrosome|nucleus|spindle				ovary(4)	4						TTCAGTCAGTGAAGGGCCTCT	0.428		NaN											0	0	0	0.010729	0	11	182				
CEP350	9857	broad.mit.edu	37	1	179989968	179989968	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989968G>C	uc001gnt.2	+	12	3442	c.3059G>C	c.(3058-3060)GGA>GCA	p.G1020A	CEP350_uc009wxl.2_Missense_Mutation_p.G1019A|CEP350_uc001gnu.2_Missense_Mutation_p.G854A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1020						centrosome|nucleus|spindle				ovary(4)	4						TTTTGTCCTGGAGAAAGAAAT	0.408		NaN											0	0	0	0.00308	0	8	77				
HMCN1	83872	broad.mit.edu	37	1	186088322	186088322	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186088322G>A	uc001grq.1	+	78	12078	c.11849_splice	c.e78-1	p.G3950_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTCATTTTTAGGAGCAATTGA	0.373		NaN											0	0	0	0.003271	0	36	109				
TPR	7175	broad.mit.edu	37	1	186319407	186319407	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186319407G>C	uc001grv.2	-	21	3021	c.2724C>G	c.(2722-2724)CTC>CTG	p.L908L		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	908	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCATATTACTGAGGTGCTGTT	0.318		NaN	T	NTRK1	papillary thyroid								0	0	0	0.012319	0	19	100				
PTPRC	5788	broad.mit.edu	37	1	198701513	198701513	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:198701513C>T	uc001gur.1	+	19	2233	c.2053C>T	c.(2053-2055)CTT>TTT	p.L685F	PTPRC_uc001gus.1_Missense_Mutation_p.L637F|PTPRC_uc001gut.1_Missense_Mutation_p.L524F|PTPRC_uc009wzf.1_Missense_Mutation_p.L573F|PTPRC_uc010ppg.1_Missense_Mutation_p.L621F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	685	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGTTGACATTCTTCCTTGTGA	0.358		NaN											0	0	0	0.001168	0	6	72				
IL20	50604	broad.mit.edu	37	1	207039849	207039849	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:207039849C>A	uc001her.2	+	3	290	c.246C>A	c.(244-246)CTC>CTA	p.L82L	IL20_uc010pry.1_Silent_p.L153L|IL20_uc009xby.2_Silent_p.L82L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	interleukin 20 precursor	82					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding				0	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GATGCTGCCTCCTGCGCCATT	0.512		NaN											1	0	3.90053e-15	0.012213	4.22713e-15	30	541				
LAMB3	3914	broad.mit.edu	37	1	209823311	209823311	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:209823311C>G	uc001hhg.2	-	2	571	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	LAMB3_uc009xco.2_Missense_Mutation_p.E61Q|LAMB3_uc001hhh.2_Missense_Mutation_p.E61Q|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.E61Q	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	61	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGCCTACCTCGCCATACTGG	0.483		NaN											0	0	0	0.004672	0	3	55				
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215256745C>G	uc001hkq.2	+	1	186	c.17C>G	c.(16-18)TCG>TGG	p.S6W	KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	6	Cytoplasmic (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCCAGCGCCTCGCGGGAGAGA	0.547		NaN											0	0	0	0.001984	0	5	85				
USH2A	7399	broad.mit.edu	37	1	215963529	215963529	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215963529C>T	uc001hku.1	-	51	10441	c.10054G>A	c.(10054-10056)GAC>AAC	p.D3352N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3352	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCACCGGGTCATTCTTTTTA	0.403		NaN								HNSCC(13;0.011)			0	0	0	0.00308	0	8	170				
CABC1	56997	broad.mit.edu	37	1	227171276	227171276	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:227171276C>G	uc001hqm.1	+	14	4523	c.1104C>G	c.(1102-1104)ATC>ATG	p.I368M	CABC1_uc001hqn.1_Missense_Mutation_p.I368M|CABC1_uc009xeq.1_Missense_Mutation_p.I316M|CABC1_uc010pvq.1_Missense_Mutation_p.I89M|CABC1_uc010pvr.1_Missense_Mutation_p.I42M|CABC1_uc001hqo.1_Missense_Mutation_p.I89M|CABC1_uc009xer.1_Translation_Start_Site	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	368	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCCAGAGCATCAACAGTGATG	0.622		NaN											0	0	0	0.001168	0	6	73				
COG2	22796	broad.mit.edu	37	1	230795210	230795210	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:230795210G>A	uc001htw.2	+	2	224	c.73G>A	c.(73-75)GAA>AAA	p.E25K	COG2_uc001htx.2_Missense_Mutation_p.E25K|COG2_uc010pwc.1_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	25					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTTTTCAGGAAGATTTCGA	0.378		NaN											0	0	0	0.006214	0	10	103				
AHCTF1	25909	broad.mit.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:247053281C>G	uc001ibu.1	-	16	2138	c.2131G>C	c.(2131-2133)GAG>CAG	p.E711Q	AHCTF1_uc001ibv.1_Missense_Mutation_p.E720Q|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	711	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338		NaN											0	0	0	0.012319	0	19	221				
AKR1C4	1109	broad.mit.edu	37	10	5248277	5248277	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:5248277A>T	uc001ihw.2	+	5	520	c.487A>T	c.(487-489)ATC>TTC	p.I163F		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	163					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	GGCCAAGTCCATCGGGGTGTC	0.507		NaN											0	0	0	0.008291	0	11	126				
UPF2	26019	broad.mit.edu	37	10	12071355	12071355	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:12071355T>C	uc001ila.2	-	2	1008	c.534A>G	c.(532-534)CTA>CTG	p.L178L	UPF2_uc001ilb.2_Silent_p.L178L|UPF2_uc001ilc.2_Silent_p.L178L|UPF2_uc009xiz.1_Silent_p.L178L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	178	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TAATAGTTTTTAGTTTCTTGA	0.408		NaN											0	0	0	0.01441	0	62	157				
ZNF438	220929	broad.mit.edu	37	10	31138355	31138355	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:31138355C>A	uc010qdz.1	-	7	1414	c.979G>T	c.(979-981)GAT>TAT	p.D327Y	ZNF438_uc001ivn.2_Missense_Mutation_p.D278Y|ZNF438_uc010qdy.1_Missense_Mutation_p.D317Y|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.D327Y|ZNF438_uc001ivp.3_Missense_Mutation_p.D317Y|ZNF438_uc010qea.1_Missense_Mutation_p.D327Y|ZNF438_uc010qeb.1_Missense_Mutation_p.D327Y|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GGTATCTTATCACAGTCGGCC	0.468		NaN											1	0	0.00829132	0.008291	0.00853629	11	167				
ALOX5	240	broad.mit.edu	37	10	45907638	45907638	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:45907638G>A	uc001jce.2	+	4	531	c.432_splice	c.e4-1	p.R144_splice	ALOX5_uc009xmt.2_Splice_Site_p.R144_splice|ALOX5_uc010qfg.1_Splice_Site_p.R144_splice	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCATGCTCAGATGGATGGAG	0.512		NaN											0	0	0	0.012319	0	23	66				
CHAT	1103	broad.mit.edu	37	10	50857602	50857602	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:50857602C>T	uc001jhz.2	+	10	1584	c.1431C>T	c.(1429-1431)CTC>CTT	p.L477L	CHAT_uc001jhv.1_Silent_p.L359L|CHAT_uc001jhx.1_Silent_p.L359L|CHAT_uc001jhy.1_Silent_p.L359L|CHAT_uc001jia.2_Silent_p.L359L|CHAT_uc010qgs.1_Silent_p.L359L	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	477					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCAGCGAGCTCCCCGCCCCCC	0.617		NaN											0	0	0	0.009096	0	4	69				
PCDH15	65217	broad.mit.edu	37	10	55600095	55600095	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:55600095C>G	uc001jju.1	-	29	4363	c.3968G>C	c.(3967-3969)AGA>ACA	p.R1323T	PCDH15_uc010qhq.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhr.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhs.1_Missense_Mutation_p.R1335T|PCDH15_uc010qht.1_Missense_Mutation_p.R1330T|PCDH15_uc010qhu.1_Missense_Mutation_p.R1323T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhw.1_Missense_Mutation_p.R1286T|PCDH15_uc010qhx.1_Missense_Mutation_p.R1252T|PCDH15_uc010qhy.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhz.1_Missense_Mutation_p.R1323T|PCDH15_uc010qia.1_Missense_Mutation_p.R1301T|PCDH15_uc010qib.1_Missense_Mutation_p.R1301T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1323	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGCTCATTTCTATCGATGGC	0.408		NaN								HNSCC(58;0.16)			0	0	0	0.011902	0	44	117				
CTNNA3	29119	broad.mit.edu	37	10	68040318	68040318	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:68040318C>T	uc009xpn.1	-	13	1917	c.1794G>A	c.(1792-1794)TTG>TTA	p.L598L	CTNNA3_uc001jmw.2_Silent_p.L598L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	598					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CCAACACATTCAATGAGCTTT	0.343		NaN											0	0	0	0.008291	0	11	140				
CCDC109A	90550	broad.mit.edu	37	10	74619017	74619017	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:74619017C>G	uc001jtc.2	+	3	324	c.303C>G	c.(301-303)CTC>CTG	p.L101L	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Silent_p.L101L|CCDC109A_uc001jtd.2_Silent_p.L52L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	101	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					AGTTCACACTCAAGCCTATCT	0.443		NaN											0	0	0	0.006214	0	10	194				
MYST4	23522	broad.mit.edu	37	10	76744917	76744917	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:76744917A>G	uc001jwn.1	+	12	2946	c.2453A>G	c.(2452-2454)TAT>TGT	p.Y818C	MYST4_uc001jwm.1_Missense_Mutation_p.Y526C|MYST4_uc001jwo.1_Missense_Mutation_p.Y526C|MYST4_uc001jwp.1_Missense_Mutation_p.Y635C	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	818	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAAACGTTGTATTATGATGTC	0.383		NaN	T	CREBBP	AML								0	0	0	0.004007	0	16	101				
ANXA11	311	broad.mit.edu	37	10	81929059	81929059	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:81929059C>T	uc001kbq.1	-	6	1052	c.227G>A	c.(226-228)GGG>GAG	p.G76E	ANXA11_uc010qlx.1_Missense_Mutation_p.G176E|ANXA11_uc001kbr.1_Missense_Mutation_p.G76E|ANXA11_uc001kbs.1_Missense_Mutation_p.G76E|ANXA11_uc001kbt.1_Missense_Mutation_p.G76E|ANXA11_uc010qly.1_Missense_Mutation_p.G43E|ANXA11_uc009xsq.1_Missense_Mutation_p.G76E|ANXA11_uc001kbu.1_Missense_Mutation_p.G76E	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	76					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCAGGGGCCCCAGGGTACAG	0.652		NaN											0	0	0	0.001168	0	5	13				
C10orf78	119392	broad.mit.edu	37	10	105882813	105882813	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:105882813C>T	uc001kxu.2	+	2	117	c.104C>T	c.(103-105)TCA>TTA	p.S35L	C10orf78_uc001kxs.2_Missense_Mutation_p.S22L|C10orf78_uc001kxt.2_5'UTR|C10orf78_uc001kxv.2_Missense_Mutation_p.S97L	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN	hypothetical protein LOC119392 isoform a	35					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)		GCGAATCCATCATCTCCCTAT	0.398		NaN											0	0	0	0.009718	0	44	92				
NRAP	4892	broad.mit.edu	37	10	115355468	115355468	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:115355468C>T	uc001laj.2	-	38	4614	c.4450G>A	c.(4450-4452)GAT>AAT	p.D1484N	NRAP_uc009xyb.2_Missense_Mutation_p.D273N|NRAP_uc001lak.2_Missense_Mutation_p.D1449N|NRAP_uc001lal.3_Missense_Mutation_p.D1484N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1484						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GATTCTGCATCTCCAGATCTA	0.512		NaN											0	0	0	0.008291	0	10	144				
FAM45A	404636	broad.mit.edu	37	10	120879939	120879939	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:120879939A>G	uc001ldw.2	+	5	612	c.568A>G	c.(568-570)ATA>GTA	p.I190V	FAM45A_uc010qsv.1_Missense_Mutation_p.I182V|FAM45A_uc010qsw.1_Missense_Mutation_p.I39V|FAM45A_uc010qsx.1_Intron|FAM45A_uc010qsy.1_Missense_Mutation_p.I117V|FAM45A_uc010qsz.1_Missense_Mutation_p.I79V	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	190										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCACCCCAAGATAGAAGCGGT	0.398		NaN											0	0	0	0.001168	0	5	77				
BAG3	9531	broad.mit.edu	37	10	121431904	121431904	+	Silent	SNP	C	C	T	rs138078305	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:121431904C>T	uc001lem.2	+	3	951	c.645C>T	c.(643-645)AAC>AAT	p.N215N	BAG3_uc001lel.2_Silent_p.N215N	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	215					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ACGAGCAGAACGTTACCCGGC	0.652		NaN											0	0	0	0.010504	0	22	70				
MKI67	4288	broad.mit.edu	37	10	129905874	129905874	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:129905874G>A	uc001lke.2	-	13	4425	c.4230C>T	c.(4228-4230)CTC>CTT	p.L1410L	MKI67_uc001lkf.2_Silent_p.L1050L|MKI67_uc009yav.1_Silent_p.L985L|MKI67_uc009yaw.1_Silent_p.L560L	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1410	16 X 122 AA approximate repeats.|4.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTGTGTGAGCTTCTTCA	0.498		NaN											0	0	0	0.013114	0	43	317				
OR51B6	390058	broad.mit.edu	37	11	5372785	5372785	+	Silent	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:5372785A>C	uc010qzb.1	+	1	48	c.48A>C	c.(46-48)CCA>CCC	p.P16P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTTCCCAGGCATGGAGA	0.453		NaN											0	0	0	0.004482	0	6	39				
MICAL2	9645	broad.mit.edu	37	11	12248645	12248645	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:12248645C>G	uc001mjz.2	+	15	2250	c.1962C>G	c.(1960-1962)CTC>CTG	p.L654L	MICAL2_uc010rch.1_Silent_p.L654L|MICAL2_uc001mka.2_Silent_p.L654L|MICAL2_uc010rci.1_Silent_p.L654L|MICAL2_uc001mkb.2_Silent_p.L654L|MICAL2_uc001mkc.2_Silent_p.L654L|MICAL2_uc001mkd.2_Silent_p.L483L|MICAL2_uc010rcj.1_Silent_p.L56L	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	654						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ATAACTATCTCAACCTCACAT	0.443		NaN											0	0	0	0.013537	0	12	58				
COPB1	1315	broad.mit.edu	37	11	14502617	14502617	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:14502617T>C	uc001mli.2	-	9	1291	c.984A>G	c.(982-984)GTA>GTG	p.V328V	COPB1_uc001mlg.2_Silent_p.V328V|COPB1_uc001mlh.2_Silent_p.V328V	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	328	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GTGTGCTCAATACTCTTAGGA	0.363		NaN											0	0	0	0.008871	0	19	141				
GTF2H1	2965	broad.mit.edu	37	11	18361114	18361114	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:18361114G>A	uc001moi.2	+	6	1211	c.517G>A	c.(517-519)GAT>AAT	p.D173N	GTF2H1_uc001moh.2_Missense_Mutation_p.D173N|GTF2H1_uc009yhm.2_Missense_Mutation_p.D57N	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1,	173					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding				0						GTTTTAGGCTGATGTCCGGCC	0.423		NaN						NER					0	0	0	0.008291	0	9	92				
CCDC34	91057	broad.mit.edu	37	11	27384539	27384539	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:27384539G>C	uc001mrh.1	-	1	257	c.203C>G	c.(202-204)TCT>TGT	p.S68C	CCDC34_uc001mri.1_Missense_Mutation_p.S68C	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	68											0						GCCAAGGGGAGACAACAGCGA	0.637		NaN											0	0	0	0.001984	0	7	95				
METT5D1	196074	broad.mit.edu	37	11	28232683	28232683	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:28232683C>G	uc001msh.2	+	4	800	c.345C>G	c.(343-345)CTC>CTG	p.L115L	METT5D1_uc001msg.2_Silent_p.L115L|METT5D1_uc001mse.2_Silent_p.L115L	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	115							methyltransferase activity				0						ATATTGTTCTCTATGCCTTGG	0.378		NaN											0	0	0	0.001168	0	6	103				
EIF3M	10480	broad.mit.edu	37	11	32622318	32622318	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:32622318G>C	uc001mtu.2	+	9	926	c.883G>C	c.(883-885)GAC>CAC	p.D295H	EIF3M_uc010ref.1_Missense_Mutation_p.D163H	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	295	PCI.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					AATTTCTTTTGACACAATGCA	0.343		NaN											0	0	0	0.006122	0	17	156				
PRPF19	27339	broad.mit.edu	37	11	60671325	60671325	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:60671325C>T	uc001nqf.2	-	2	235	c.28G>A	c.(28-30)GAA>AAA	p.E10K		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	10	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						TCCGGCACTTCGTTAGAGACT	0.507		NaN											0	0	0	0.008871	0	18	99				
SYT7	9066	broad.mit.edu	37	11	61291406	61291406	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:61291406C>T	uc001nrv.2	-	7	806	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	SYT7_uc009ynr.2_Missense_Mutation_p.R342Q	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	267	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						CAGCTCCCCTCGGCTCCCCTG	0.607		NaN											0	0	0	0.00245	0	13	205				
CD248	57124	broad.mit.edu	37	11	66082774	66082774	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66082774G>A	uc001ohm.1	-	1	1742	c.1725C>T	c.(1723-1725)CTC>CTT	p.L575L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	575	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CCTGGGTTCTGAGGACAAGGG	0.607		NaN											0	0	0	0.00333	0	23	143				
B3GNT1	11041	broad.mit.edu	37	11	66113603	66113603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66113603C>T	uc001ohr.2	-	2	1310	c.1165G>A	c.(1165-1167)GAA>AAA	p.E389K	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	389	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						TGCTGATTTTCAGCCTCCTTT	0.502		NaN											0	0	0	0.01441	0	77	140				
SHANK2	22941	broad.mit.edu	37	11	70319029	70319029	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:70319029C>T	uc001oqc.2	-	22	5573	c.5495G>A	c.(5494-5496)CGA>CAA	p.R1832Q	SHANK2_uc010rqn.1_Missense_Mutation_p.R1244Q|SHANK2_uc001opz.2_Missense_Mutation_p.R1237Q|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.R168Q	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1453	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGCCCGACTCGAGTTACCCC	0.488		NaN											0	0	0	0.01441	0	74	180				
SYTL2	54843	broad.mit.edu	37	11	85447612	85447612	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:85447612G>A	uc010rth.1	-	5	791	c.515C>T	c.(514-516)TCA>TTA	p.S172L	SYTL2_uc010rtg.1_Missense_Mutation_p.S173L|SYTL2_uc010rti.1_Missense_Mutation_p.S172L|SYTL2_uc010rtj.1_Missense_Mutation_p.S124L|SYTL2_uc001pbf.3_Missense_Mutation_p.S172L|SYTL2_uc010rtf.1_Missense_Mutation_p.S30L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	172					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGTTGTGATGAGTGACCTTC	0.313		NaN											0	0	0	0.000602	0	4	70				
C11orf73	51501	broad.mit.edu	37	11	86048472	86048472	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:86048472C>G	uc001pbu.2	+	3	558	c.320C>G	c.(319-321)TCT>TGT	p.S107C	C11orf73_uc001pbt.2_Missense_Mutation_p.S107C|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S8C|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	107						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				CGAACTCCATCTGTTGCTCAG	0.403		NaN											0	0	0	0.01441	0	51	272				
FAT3	120114	broad.mit.edu	37	11	92533128	92533128	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:92533128G>C	uc001pdj.3	+	9	6966	c.6949G>C	c.(6949-6951)GAA>CAA	p.E2317Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2317	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCAGACTCAGAAAACAATAA	0.388		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.000602	0	5	39				
MMP27	64066	broad.mit.edu	37	11	102564639	102564639	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:102564639C>G	uc001phd.1	-	8	1214	c.1191G>C	c.(1189-1191)TGG>TGC	p.W397C		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	397	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAACTTACCTCCAGCACCAAA	0.353		NaN											0	0	0	0.000602	0	4	169				
DYNC2H1	79659	broad.mit.edu	37	11	103086469	103086469	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:103086469A>C	uc001pho.2	+	55	8858	c.8714A>C	c.(8713-8715)AAT>ACT	p.N2905T	DYNC2H1_uc001phn.1_Missense_Mutation_p.N2905T|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2905	Potential.|Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTAAACTAAATGAAGCTAAA	0.343		NaN											0	0	0	0.004672	0	3	19				
CARD16	114769	broad.mit.edu	37	11	104915124	104915124	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:104915124G>A	uc001pip.1	-	2	296	c.269C>T	c.(268-270)TCA>TTA	p.S90L	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.S90L	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	90	CARD.				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						CTTACCTGCTGAGAGTCCCAG	0.453		NaN											0	0	0	0.01441	0	50	138				
MLL	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:118374132G>C	uc001pta.2	+	27	7539	c.7516G>C	c.(7516-7518)GAA>CAA	p.E2506Q	MLL_uc001ptb.2_Missense_Mutation_p.E2509Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2506					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CATGCAAGTAGAAGGATCTGC	0.448		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.006214	0	9	72		Valid		
OR4D5	219875	broad.mit.edu	37	11	123810416	123810416	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123810416C>A	uc001pzk.1	+	1	93	c.93C>A	c.(91-93)TTC>TTA	p.F31L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTTTTCTCTGCTGTGT	0.463		NaN											1	0	4.96729e-08	0.008871	5.34485e-08	19	154				
OR10G8	219869	broad.mit.edu	37	11	123900608	123900608	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123900608C>T	uc001pzp.1	+	1	279	c.279C>T	c.(277-279)TTC>TTT	p.F93F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATCTCCTTCCACAGCTGCA	0.522		NaN											0	0	0	0.008291	0	9	134				
KCNJ5	3762	broad.mit.edu	37	11	128781390	128781390	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:128781390G>C	uc001qet.2	+	2	536	c.222G>C	c.(220-222)CTG>CTC	p.L74L	KCNJ5_uc009zck.2_Silent_p.L74L|KCNJ5_uc001qew.2_Silent_p.L74L	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	74	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACCGGTACCTGAGTGACCTCT	0.577		NaN											0	0	0	0.001168	0	4	134				
FOXM1	2305	broad.mit.edu	37	12	2968590	2968590	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:2968590C>G	uc001qlf.2	-	9	1771	c.1506G>C	c.(1504-1506)TGG>TGC	p.W502C	uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.W540C|FOXM1_uc001qlg.2_Missense_Mutation_p.W487C|FOXM1_uc009zea.2_Missense_Mutation_p.W487C|FOXM1_uc009zeb.2_Missense_Mutation_p.W486C	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	502	Glu/Pro/Ser/Thr-rich.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACGAATCCTCCCAGGAGTGAG	0.547		NaN											0	0	0	0.001168	0	5	201				
CHD4	1108	broad.mit.edu	37	12	6680126	6680126	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6680126C>T	uc001qpo.2	-	39	5794	c.5630G>A	c.(5629-5631)CGA>CAA	p.R1877Q	CHD4_uc001qpn.2_Missense_Mutation_p.R1870Q|CHD4_uc001qpp.2_Missense_Mutation_p.R1902Q|NOP2_uc001qph.1_5'Flank|NOP2_uc001qpi.1_5'Flank|NOP2_uc001qpj.1_5'Flank|NOP2_uc001qpk.1_5'Flank|NOP2_uc001qpl.1_5'Flank|NOP2_uc001qpm.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1877	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGGGGAATTCGGGCAATGGT	0.537		NaN											0	0	0	0.01441	0	54	333				
CHD4	1108	broad.mit.edu	37	12	6686986	6686986	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6686986C>G	uc001qpo.2	-	37	5490	c.5326G>C	c.(5326-5328)GAG>CAG	p.E1776Q	CHD4_uc001qpn.2_Missense_Mutation_p.E1769Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1801Q|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1776	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTTGATCTCTAAGAAATTG	0.463		NaN											0	0	0	0.001855	0	11	163				
ABCC9	10060	broad.mit.edu	37	12	22015985	22015985	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:22015985C>T	uc001rfi.1	-	18	2261	c.2241G>A	c.(2239-2241)AGG>AGA	p.R747R	ABCC9_uc001rfh.2_Silent_p.R747R|ABCC9_uc001rfj.1_Silent_p.R711R	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	747	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTACCTGTTCCTACTGAAAA	0.323		NaN											0	0	0	0.000602	0	5	74				
ADAMTS20	80070	broad.mit.edu	37	12	43826585	43826585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:43826585G>T	uc010skx.1	-	20	2750	c.2750C>A	c.(2749-2751)TCA>TAA	p.S917*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.S71*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.S71*	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	917	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTGGGATGAACATTCACT	0.368		NaN											1	0	0.000673444	0.008291	0.000696507	10	187				
BAZ2A	11176	broad.mit.edu	37	12	56995427	56995427	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:56995427G>C	uc001slq.1	-	20	4174	c.3980C>G	c.(3979-3981)TCA>TGA	p.S1327*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.S1325*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.S155*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.S297*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.S1295*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1327	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						CATCTGGGCTGAGATGTTAAA	0.602		NaN											0	0	0	0.01441	0	51	118				
FGD6	55785	broad.mit.edu	37	12	95604045	95604045	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:95604045C>T	uc001tdp.3	-	2	1239	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	339					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CCCGGTTCTTCAGTGCTTTCA	0.408		NaN											0	0	0	0.012319	0	19	235				
C12orf48	55010	broad.mit.edu	37	12	102572447	102572447	+	Silent	SNP	C	C	T	rs146074209	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:102572447C>T	uc001tjf.2	+	8	1195	c.1083C>T	c.(1081-1083)GAC>GAT	p.D361D	C12orf48_uc001tjg.2_Silent_p.D280D|C12orf48_uc010swa.1_Silent_p.D438D|C12orf48_uc001tjh.2_Silent_p.D280D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.D76D|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	361					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TTCTTTTGGACGAAGAAGCAG	0.368		NaN											0	0	0	0.000602	0	4	87				
CKAP4	10970	broad.mit.edu	37	12	106632982	106632982	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:106632982G>A	uc001tlk.2	-	2	1713	c.1629C>T	c.(1627-1629)GTC>GTT	p.V543V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	543	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						CCACTTGGCTGACTGAGGCTT	0.527		NaN											0	0	0	0.005443	0	29	128				
SSH1	54434	broad.mit.edu	37	12	109182345	109182345	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:109182345C>T	uc001tnm.2	-	15	2656	c.2569G>A	c.(2569-2571)GAG>AAG	p.E857K	SSH1_uc001tnl.2_Missense_Mutation_p.E545K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	857					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						TGGCTCTCCTCGGGGATGCTG	0.667		NaN											0	0	0	0.009096	0	4	36				
KSR2	283455	broad.mit.edu	37	12	117923470	117923470	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:117923470G>C	uc001two.2	-	15	2214	c.2159C>G	c.(2158-2160)TCC>TGC	p.S720C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	749	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCACAACGGAATAGAGCGT	0.448		NaN											0	0	0	0.003163	0	16	80				
GPR133	283383	broad.mit.edu	37	12	131484985	131484985	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131484985G>C	uc001uit.3	+	9	1583	c.1024G>C	c.(1024-1026)GAG>CAG	p.E342Q	GPR133_uc010tbm.1_Missense_Mutation_p.E374Q	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	342	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCTCTGTCAGAGGTAAGAGA	0.279		NaN											0	0	0	0.00245	0	11	93				
GPR133	283383	broad.mit.edu	37	12	131488789	131488789	+	Silent	SNP	G	G	A	rs73473278	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131488789G>A	uc001uit.3	+	11	1762	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	GPR133_uc010tbm.1_Silent_p.P433P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	401	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCGCTTCCCGGCCCACGGGC	0.632		NaN											0	0	0	0.001984	0	5	32				
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:20048070G>C	uc001umd.2	-	7	587	c.376C>G	c.(376-378)CGA>GGA	p.R126G	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Missense_Mutation_p.R89G|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	126	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.259		NaN											0	0	0	0.004482	0	9	76				
SLC7A1	6541	broad.mit.edu	37	13	30106971	30106971	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:30106971G>C	uc001uso.2	-	4	906	c.519C>G	c.(517-519)CTC>CTG	p.L173L		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	173	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTCAAGATGAGAATTATGA	0.493		NaN											0	0	0	0.006214	0	7	100				
C13orf26	122046	broad.mit.edu	37	13	31543165	31543165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:31543165C>T	uc001uti.2	+	6	809	c.790C>T	c.(790-792)CAG>TAG	p.Q264*		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	hypothetical protein LOC122046	264										ovary(2)|skin(1)	3		Lung SC(185;0.0281)		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)		AGAGTACCTTCAGAGTCTTTC	0.368		NaN											0	0	0	0.00308	0	7	129				
BRCA2	675	broad.mit.edu	37	13	32914961	32914961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:32914961C>T	uc001uub.1	+	11	6696	c.6469C>T	c.(6469-6471)CAA>TAA	p.Q2157*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2157					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATATCTCTCTCAATTTCAACA	0.318		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.008871	0	21	52				
NAA16	79612	broad.mit.edu	37	13	41910844	41910844	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:41910844C>T	uc001uyf.2	+	9	1290	c.966C>T	c.(964-966)TGC>TGT	p.C322C	NAA16_uc010tfg.1_Intron|NAA16_uc001uye.3_Silent_p.C322C|NAA16_uc001uyd.3_Intron	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	322					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						GTAAAGGCTGCCCACCCTTGT	0.318		NaN											0	0	0	0.004482	0	7	100				
NALCN	259232	broad.mit.edu	37	13	101944589	101944589	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:101944589C>T	uc001vox.1	-	8	1117	c.928G>A	c.(928-930)GCC>ACC	p.A310T	NALCN_uc001voy.2_Missense_Mutation_p.A25T|NALCN_uc001voz.2_Missense_Mutation_p.A310T|NALCN_uc001vpa.2_Missense_Mutation_p.A310T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	310	Helical; Name=S6 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAAGCCAGGCGAGGAAGAAA	0.458		NaN											0	0	0	0.010729	0	10	38				
C13orf27	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:103419691C>A	uc001vpo.2	-	5	614	c.436G>T	c.(436-438)GAA>TAA	p.E146*	C13orf27_uc001vpn.2_Nonsense_Mutation_p.E105*|C13orf27_uc001vpp.2_Nonsense_Mutation_p.E105*	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	146											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGAGGTCTTCATCTCTGAGT	0.408		NaN											1	0	0.00307968	0.00308	0.00317789	6	155				
SALL2	6297	broad.mit.edu	37	14	21993519	21993519	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:21993519C>T	uc001wbe.2	-	2	625	c.343G>A	c.(343-345)GAG>AAG	p.E115K	SALL2_uc010tly.1_Missense_Mutation_p.E113K|SALL2_uc010tlz.1_Missense_Mutation_p.E113K|SALL2_uc001wbf.3_Missense_Mutation_p.E113K|SALL2_uc010tma.1_Missense_Mutation_p.E115K|SALL2_uc001wbg.1_Missense_Mutation_p.E115K	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	115							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCTCCTCTCTGGGCCCCAG	0.642		NaN											0	0	0	0.000602	0	5	74				
PRKD1	5587	broad.mit.edu	37	14	30105594	30105594	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:30105594C>A	uc001wqh.2	-	7	1273	c.1092G>T	c.(1090-1092)ATG>ATT	p.M364I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	364					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATCTTGGACCATTGCTTCTT	0.517		NaN											1	0	8.00594e-06	0.007413	8.47358e-06	17	151				
ARHGAP5	394	broad.mit.edu	37	14	32560932	32560932	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:32560932C>G	uc001wrl.2	+	2	1296	c.1057C>G	c.(1057-1059)CTA>GTA	p.L353V	ARHGAP5_uc001wrm.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	353					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTGCCAAATCTAGAAGAGAT	0.323		NaN											0	0	0	0.00499	0	18	173				
BAZ1A	11177	broad.mit.edu	37	14	35228028	35228028	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:35228028C>T	uc001wsk.2	-	25	4836	c.4268G>A	c.(4267-4269)CGA>CAA	p.R1423Q	BAZ1A_uc001wsl.2_Missense_Mutation_p.R1391Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1423					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.R1423fs*21(1)		lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAACTCCTTCGACCCAGTGT	0.408		NaN											0	0	0	0.001984	0	7	73				
RALGAPA1	253959	broad.mit.edu	37	14	36230213	36230213	+	Splice_Site	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:36230213C>A	uc001wti.2	-	6	761	c.370_splice	c.e6-1	p.I124_splice	RALGAPA1_uc001wtj.2_Splice_Site_p.I124_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.I124_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.I124_splice|RALGAPA1_uc001wtk.1_Splice_Site	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CCCGCCTAATCTAAAATAAAA	0.323		NaN											1	0	0.000602214	0.000602	0.000624263	5	35				
KLHDC2	23588	broad.mit.edu	37	14	50246473	50246473	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50246473G>C	uc001wwx.2	+	8	1122	c.722G>C	c.(721-723)AGA>ACA	p.R241T	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R241T|KLHDC2_uc010anp.2_Missense_Mutation_p.R241T	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	241	Kelch 4.					nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)					TAGGATGCTAGAATGAATGAT	0.318		NaN											0	0	0	0.006214	0	10	89				
C14orf138	79609	broad.mit.edu	37	14	50583166	50583166	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50583166G>A	uc001wxo.1	-	1	132	c.105C>T	c.(103-105)TCC>TCT	p.S35S	C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxp.1_Silent_p.S35S|C14orf138_uc001wxq.1_RNA	NM_024558	NP_078834	Q9H867	MT21D_HUMAN	hypothetical protein LOC79609 isoform a	35							methyltransferase activity				0	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCACGCCACCGGAGCTATACT	0.602		NaN											0	0	0	0.000602	0	5	18				
WDHD1	11169	broad.mit.edu	37	14	55448271	55448271	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55448271G>A	uc001xbm.1	-	16	2128	c.2050C>T	c.(2050-2052)CCC>TCC	p.P684S	WDHD1_uc010aom.1_Missense_Mutation_p.P201S|WDHD1_uc001xbn.1_Missense_Mutation_p.P561S	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	684						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						AGTTGCTGGGGATTTTCATGG	0.368		NaN											0	0	0	0.013537	0	11	114				
WDHD1	11169	broad.mit.edu	37	14	55467688	55467688	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55467688G>A	uc001xbm.1	-	9	794	c.716C>T	c.(715-717)TCT>TTT	p.S239F	WDHD1_uc001xbn.1_Missense_Mutation_p.S116F	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	239	WD 6.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CCCACAGGGAGACCAGGTTAC	0.308		NaN											0	0	0	0.008871	0	21	166				
SPTB	6710	broad.mit.edu	37	14	65234536	65234536	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:65234536C>G	uc001xht.2	-	29	6118	c.6064G>C	c.(6064-6066)GAG>CAG	p.E2022Q	SPTB_uc001xhr.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhs.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhu.2_Missense_Mutation_p.E2022Q|SPTB_uc010aqi.2_Missense_Mutation_p.E683Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2022	Spectrin 17.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACGCCTCAGCCACAGAG	0.607		NaN											0	0	0	0.004482	0	8	29				
RGS6	9628	broad.mit.edu	37	14	72985157	72985157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:72985157C>G	uc001xna.3	+	15	1713	c.1190C>G	c.(1189-1191)CCA>CGA	p.P397R	RGS6_uc010ttn.1_Missense_Mutation_p.P397R|RGS6_uc001xmx.3_Missense_Mutation_p.P397R|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.P397R|RGS6_uc010ttp.1_Missense_Mutation_p.P328R|RGS6_uc001xmz.1_Missense_Mutation_p.P258R	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	397	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAGGGGCTCCAAGTGCAATC	0.468		NaN											0	0	0	0.008291	0	9	59				
ZNF410	57862	broad.mit.edu	37	14	74360609	74360609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:74360609C>A	uc001xoz.1	+	3	325	c.143C>A	c.(142-144)TCA>TAA	p.S48*	ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Nonsense_Mutation_p.S48*|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpc.1_5'UTR	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACTGAAGCCTCAGAATGCAGT	0.418		NaN											1	0	1.1362e-29	0.01441	1.24624e-29	62	103				
RIN3	79890	broad.mit.edu	37	14	93081784	93081784	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:93081784G>C	uc001yap.2	+	4	552	c.400G>C	c.(400-402)GAG>CAG	p.E134Q	RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Missense_Mutation_p.E59Q	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	134	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TCTTGTGTTTGAGGACATCTT	0.522		NaN											0	0	0	0.001855	0	11	189				
MAGEL2	54551	broad.mit.edu	37	15	23889947	23889947	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:23889947G>C	uc001ywj.3	-	1	1229	c.1134C>G	c.(1132-1134)CTC>CTG	p.L378L		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTCAGAGAGACCCAGGG	0.647		NaN											0	0	0	0.009096	0	4	20				
ARHGAP11A	9824	broad.mit.edu	37	15	32917399	32917399	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:32917399C>A	uc001zgy.1	+	5	1392	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.Q35K|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.Q35K	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	224	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GCTACGATTACAGGCTGCAGT	0.363		NaN											1	0	5.82388e-19	0.01441	6.32666e-19	53	68				
FMN1	342184	broad.mit.edu	37	15	33359049	33359049	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:33359049G>C	uc001zhf.3	-	1	1037	c.1037C>G	c.(1036-1038)TCT>TGT	p.S346C	FMN1_uc001zhg.2_Missense_Mutation_p.S346C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGCAGCAGAGAGAGCTGCTC	0.557		NaN											0	0	0	0.010729	0	10	98				
C15orf55	256646	broad.mit.edu	37	15	34649515	34649515	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:34649515G>A	uc001zif.2	+	7	3377	c.3222G>A	c.(3220-3222)AAG>AAA	p.K1074K	C15orf55_uc010ucc.1_Silent_p.K1102K|C15orf55_uc010ucd.1_Silent_p.K1092K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1074						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGTCTGGGAAGCGAGCTCTAG	0.587		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.009096	0	4	55				
SPRED1	161742	broad.mit.edu	37	15	38591726	38591726	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38591726G>A	uc001zka.3	+	2	520	c.185G>A	c.(184-186)GGA>GAA	p.G62E		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	62	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTATCCGTGGAGAGCGACTC	0.388		NaN							Legius_syndrome				0	0	0	0.001984	0	7	94				
RASGRP1	10125	broad.mit.edu	37	15	38808463	38808463	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38808463G>C	uc001zke.3	-	6	788	c.610C>G	c.(610-612)CTG>GTG	p.L204V	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.L66V|RASGRP1_uc010bbg.2_Missense_Mutation_p.L66V|RASGRP1_uc001zkd.3_Missense_Mutation_p.L204V	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	204					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTGGTTCCAGATGGTCAAAG	0.468		NaN											0	0	0	0.009096	0	4	98				
NUSAP1	51203	broad.mit.edu	37	15	41625174	41625174	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41625174G>C	uc001zns.3	+	1	249	c.19G>C	c.(19-21)GAG>CAG	p.E7Q	OIP5_uc001znp.2_5'Flank|NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.E7Q|NUSAP1_uc010bce.2_Missense_Mutation_p.E7Q|NUSAP1_uc001znt.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znv.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znu.3_Missense_Mutation_p.E7Q|NUSAP1_uc010ucw.1_Missense_Mutation_p.E7Q	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	7					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCCCTCTCTAGAGGAGCTGGA	0.582		NaN											0	0	0	0.001984	0	6	21				
LTK	4058	broad.mit.edu	37	15	41805071	41805071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41805071C>G	uc001zoa.3	-	3	371	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	LTK_uc001zob.3_Missense_Mutation_p.E65Q|LTK_uc010ucx.1_Missense_Mutation_p.E65Q|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	65	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAAGACCCCTCGGTGCCTGAG	0.652		NaN								TSP Lung(18;0.14)			0	0	0	0.009096	0	3	44				
MGA	23269	broad.mit.edu	37	15	41961828	41961828	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41961828C>G	uc001zog.1	+	2	827	c.736C>G	c.(736-738)CAG>GAG	p.Q246E	MGA_uc010ucy.1_Missense_Mutation_p.Q246E|MGA_uc010ucz.1_Missense_Mutation_p.Q246E	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	246	T-box.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGATTACTCAGCTGAAAAT	0.418		NaN											0	0	0	0.007291	0	30	32				
CDAN1	146059	broad.mit.edu	37	15	43025297	43025297	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025297G>A	uc001zql.2	-	9	1572	c.1455C>T	c.(1453-1455)ATC>ATT	p.I485I	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	485						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACCCACCTGATTCTGCTGC	0.552		NaN											0	0	0	0.00308	0	8	74				
CDAN1	146059	broad.mit.edu	37	15	43025301	43025301	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025301C>T	uc001zql.2	-	9	1568	c.1451G>A	c.(1450-1452)AGA>AAA	p.R484K	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	484						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCACCTGATTCTGCTGCCCAA	0.552		NaN											0	0	0	0.00308	0	8	76				
CASC4	113201	broad.mit.edu	37	15	44695105	44695105	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:44695105G>C	uc001zto.1	+	9	1392	c.1093G>C	c.(1093-1095)GAA>CAA	p.E365Q	CASC4_uc001ztp.2_Missense_Mutation_p.E365Q|CASC4_uc001ztq.2_Intron	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	365	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGATGAAAATGAATCCCCTGT	0.453		NaN											0	0	0	0.004482	0	8	75				
SCG3	29106	broad.mit.edu	37	15	51988109	51988109	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:51988109C>G	uc002abh.2	+	8	1314	c.906C>G	c.(904-906)ATC>ATG	p.I302M	SCG3_uc010ufz.1_Missense_Mutation_p.I70M	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	302					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		TGATTACTATCATGAAAACAC	0.333		NaN											0	0	0	0.01441	0	72	110				
C15orf44	81556	broad.mit.edu	37	15	65891286	65891286	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65891286C>G	uc002apd.2	-	5	865	c.529G>C	c.(529-531)GAT>CAT	p.D177H	C15orf44_uc010uix.1_Missense_Mutation_p.D213H|C15orf44_uc010uiz.1_Missense_Mutation_p.D141H|C15orf44_uc010uja.1_Missense_Mutation_p.D128H|C15orf44_uc010ujb.1_Missense_Mutation_p.D98H|C15orf44_uc002ape.3_Missense_Mutation_p.D177H|C15orf44_uc010uiy.1_Missense_Mutation_p.D98H	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2	177	VWFA.			D -> Y (in Ref. 2; BAB55140).						ovary(1)	1						TTGTTTAAATCTATGAGACGT	0.418		NaN											0	0	0	0.013537	0	11	123				
DENND4A	10260	broad.mit.edu	37	15	65983838	65983838	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65983838C>T	uc002aph.2	-	22	3340	c.2962G>A	c.(2962-2964)GAG>AAG	p.E988K	DENND4A_uc002api.2_Missense_Mutation_p.E1031K|DENND4A_uc002apj.3_Missense_Mutation_p.E988K	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AAGAGCAGCTCAGGTGTGCTT	0.284		NaN											0	0	0	0.003163	0	16	8				
CLK3	1198	broad.mit.edu	37	15	74912488	74912488	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:74912488G>A	uc010uln.1	+	3	1196	c.735G>A	c.(733-735)GAG>GAA	p.E245E	CLK3_uc002ayg.3_Silent_p.E97E|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.E245E|CLK3_uc002ayj.3_Silent_p.E97E|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	245	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GATCGCGGGAGAGGGGGCCAT	0.617		NaN											0	0	0	0.01441	0	51	75				
POLG	5428	broad.mit.edu	37	15	89873444	89873444	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:89873444C>T	uc002bns.3	-	3	1005	c.723G>A	c.(721-723)CCG>CCA	p.P241P	POLG_uc002bnr.3_Silent_p.P241P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	241					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGAGGTCAGCCGGCGACAGCT	0.617		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.006214	0	10	47				
TTC23	64927	broad.mit.edu	37	15	99759146	99759146	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:99759146C>G	uc002bur.2	-	6	943	c.412G>C	c.(412-414)GAG>CAG	p.E138Q	TTC23_uc002bus.2_Missense_Mutation_p.E138Q|TTC23_uc002but.2_Missense_Mutation_p.E138Q|TTC23_uc002buu.2_Missense_Mutation_p.E138Q|TTC23_uc002buv.2_Missense_Mutation_p.E138Q|TTC23_uc002bux.2_Missense_Mutation_p.E138Q|TTC23_uc002buw.2_Missense_Mutation_p.E138Q|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.E138Q|TTC23_uc010bor.2_Missense_Mutation_p.E138Q|TTC23_uc002buz.2_Missense_Mutation_p.E138Q	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	138	TPR 2.						binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGGAAAAGCTCAATGGAAAAC	0.393		NaN											0	0	0	0.007413	0	19	216				
BAIAP3	8938	broad.mit.edu	37	16	1391337	1391337	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:1391337C>T	uc002clk.1	+	8	683	c.683C>T	c.(682-684)TCG>TTG	p.S228L	BAIAP3_uc002clj.2_Missense_Mutation_p.S210L|BAIAP3_uc010uuz.1_Missense_Mutation_p.S193L|BAIAP3_uc010uva.1_Missense_Mutation_p.S165L|BAIAP3_uc010uvb.1_Missense_Mutation_p.S245L|BAIAP3_uc010uvc.1_Missense_Mutation_p.S193L	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	228	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CTGCCTGCCTCGGACGCCACG	0.706		NaN											0	0	0	0.008291	0	9	29				
AMDHD2	51005	broad.mit.edu	37	16	2570828	2570828	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:2570828G>A	uc002cqq.2	+	2	239	c.142G>A	c.(142-144)GAG>AAG	p.E48K	AMDHD2_uc002cqp.2_Missense_Mutation_p.E48K|AMDHD2_uc010uwc.1_Missense_Mutation_p.E48K|AMDHD2_uc010uwd.1_Intron	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	48					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						GTTCTTTGAGGAGCGGCGCGT	0.711		NaN											0	0	0	0.001855	0	6	13				
ADCY9	115	broad.mit.edu	37	16	4016190	4016190	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:4016190C>G	uc002cvx.2	-	11	4187	c.3648G>C	c.(3646-3648)TTG>TTC	p.L1216F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1216	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCATCTTGCTCAAGACGCGGT	0.572		NaN											0	0	0	0.010729	0	10	140				
PALB2	79728	broad.mit.edu	37	16	23640969	23640969	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:23640969C>T	uc002dlx.1	-	5	2706	c.2506G>A	c.(2506-2508)GTC>ATC	p.V836I		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	836					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		ACCTGTTCGACGGAATGTTTA	0.443		NaN	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.001855	0	14	74				
SH2B1	25970	broad.mit.edu	37	16	28878108	28878108	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:28878108G>A	uc002dri.2	+	4	1132	c.693G>A	c.(691-693)CTG>CTA	p.L231L	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Silent_p.L231L|SH2B1_uc002drk.2_Silent_p.L231L|SH2B1_uc002drl.2_Silent_p.L231L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Silent_p.L231L|SH2B1_uc002drm.2_Silent_p.L231L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	231	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).|Required for nuclear localization (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TTGAGAGGCTGAGACTCAGTC	0.622		NaN											0	0	0	0.008291	0	11	29				
ABCC11	85320	broad.mit.edu	37	16	48264436	48264436	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:48264436G>C	uc002eff.1	-	2	498	c.148C>G	c.(148-150)CCT>GCT	p.P50A	ABCC11_uc002efg.1_Missense_Mutation_p.P50A|ABCC11_uc002efh.1_Missense_Mutation_p.P50A|ABCC11_uc010vgl.1_Missense_Mutation_p.P50A	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	50	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGCCTCAGGATTTCTCTCT	0.498		NaN							Cerumen_Type				0	0	0	0.001984	0	4	44				
ZNF423	23090	broad.mit.edu	37	16	49671947	49671947	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:49671947G>A	uc002efs.2	-	5	1414	c.1116C>T	c.(1114-1116)CCC>CCT	p.P372P	ZNF423_uc010vgn.1_Silent_p.P255P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	372					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CGCTGGAGTCGGGTGTGGCGC	0.677		NaN											0	0	0	0.000602	0	5	21				
HEATR3	55027	broad.mit.edu	37	16	50100305	50100305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:50100305G>A	uc002efw.2	+	2	328	c.166G>A	c.(166-168)GAG>AAG	p.E56K	HEATR3_uc002efx.2_Intron	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	56	HEAT 1.						binding			ovary(1)|skin(1)	2						CGAGGTCCGCGAGTGCGCCTG	0.756		NaN											0	0	0	0.009096	0	3	5				
NLRC5	84166	broad.mit.edu	37	16	57065331	57065331	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:57065331C>T	uc002ekk.1	+	11	2658	c.2433C>T	c.(2431-2433)ATC>ATT	p.I811I	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.I560I|NLRC5_uc002ekl.2_Silent_p.I616I|NLRC5_uc002ekm.2_Silent_p.I616I|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	811					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CGGACCTCATCTTCCTTCTTT	0.562		NaN											0	0	0	0.009096	0	4	48				
EDC4	23644	broad.mit.edu	37	16	67909846	67909846	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:67909846A>T	uc002eur.2	+	2	249	c.83_splice	c.e2-2	p.G28_splice	EDC4_uc010cer.2_Splice_Site|EDC4_uc010vkg.1_Splice_Site|EDC4_uc010ces.1_5'Flank|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTTGTCCCCAGGCCCCAGTG	0.557		NaN											0	0	0	0.011902	0	46	120				
VAT1L	57687	broad.mit.edu	37	16	77859262	77859262	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:77859262C>T	uc002ffg.1	+	3	580	c.483C>T	c.(481-483)TTC>TTT	p.F161F		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	161							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTGCTGCATTCCCCATGAACT	0.537		NaN											0	0	0	0.009096	0	4	39				
PKD1L2	114780	broad.mit.edu	37	16	81249935	81249935	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:81249935G>A	uc002fgh.1	-	2	378	c.378C>T	c.(376-378)GAC>GAT	p.D126D	PKD1L2_uc002fgj.2_Silent_p.D126D	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	126	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCCGCAGGTGTCAGGGGCAG	0.657		NaN											0	0	0	0.00333	0	14	37				
CDH15	1013	broad.mit.edu	37	16	89254631	89254631	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:89254631G>A	uc002fmt.2	+	7	993	c.916G>A	c.(916-918)GAT>AAT	p.D306N		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	306	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGCGACCCCGATGGGCAGTT	0.647		NaN											0	0	0	0.004672	0	3	21				
PRPF8	10594	broad.mit.edu	37	17	1582371	1582371	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:1582371G>A	uc002fte.2	-	11	1653	c.1539C>T	c.(1537-1539)CTC>CTT	p.L513L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	513						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCAGGTAGTTGAGGTTTTTGC	0.542		NaN											0	0	0	0.00632	0	26	83				
MYH2	4620	broad.mit.edu	37	17	10432249	10432249	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10432249C>T	uc010coi.2	-	27	3630	c.3502G>A	c.(3502-3504)GAG>AAG	p.E1168K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1168K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1168	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTGTTCATCTCAATCTGGGCT	0.612		NaN											0	0	0	0.001855	0	10	106				
MYH3	4621	broad.mit.edu	37	17	10535904	10535904	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10535904G>C	uc002gmq.1	-	33	4922	c.4845C>G	c.(4843-4845)CTC>CTG	p.L1615L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1615	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.L1615R(1)		ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCTTCTTCTTGAGCCGGATGG	0.587		NaN											0	0	0	0.00308	0	6	325				
RAI1	10743	broad.mit.edu	37	17	17699982	17699982	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17699982C>G	uc002grm.2	+	3	4189	c.3720C>G	c.(3718-3720)GTC>GTG	p.V1240V	RAI1_uc002grn.1_Silent_p.V1240V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1240	Nuclear localization signal (Potential).					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGAACCTGGTCTTGCGGAGCC	0.632		NaN											0	0	0	0.000602	0	5	20				
RAI1	10743	broad.mit.edu	37	17	17700179	17700179	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700179C>G	uc002grm.2	+	3	4386	c.3917C>G	c.(3916-3918)TCT>TGT	p.S1306C	RAI1_uc002grn.1_Missense_Mutation_p.S1306C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1306						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCTCGCCTCTCGGGCAGCC	0.652		NaN											0	0	0	0.004007	0	16	77				
RAI1	10743	broad.mit.edu	37	17	17700285	17700285	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700285C>G	uc002grm.2	+	3	4492	c.4023C>G	c.(4021-4023)CTC>CTG	p.L1341L	RAI1_uc002grn.1_Silent_p.L1341L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1341						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGCCCAGCCTCAAGAAGTTCG	0.632		NaN											0	0	0	0.010504	0	22	78				
RAI1	10743	broad.mit.edu	37	17	17700331	17700331	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700331C>A	uc002grm.2	+	3	4538	c.4069C>A	c.(4069-4071)CTG>ATG	p.L1357M	RAI1_uc002grn.1_Missense_Mutation_p.L1357M	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1357						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		TGGTAATCCTCTGAGCCCATC	0.622		NaN											1	0	1.67942e-08	0.006122	1.81137e-08	18	94				
RAI1	10743	broad.mit.edu	37	17	17700911	17700911	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700911C>T	uc002grm.2	+	3	5118	c.4649C>T	c.(4648-4650)TCT>TTT	p.S1550F	RAI1_uc002grn.1_Missense_Mutation_p.S1550F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1550						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		AACACCACCTCTTCACCCTGT	0.612		NaN											0	0	0	0.010729	0	10	64				
RAI1	10743	broad.mit.edu	37	17	17700914	17700914	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700914C>T	uc002grm.2	+	3	5121	c.4652C>T	c.(4651-4653)TCA>TTA	p.S1551L	RAI1_uc002grn.1_Missense_Mutation_p.S1551L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1551						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACCACCTCTTCACCCTGTAAG	0.607		NaN											0	0	0	0.010729	0	10	62				
RAI1	10743	broad.mit.edu	37	17	17701368	17701368	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17701368C>T	uc002grm.2	+	3	5575	c.5106C>T	c.(5104-5106)CTC>CTT	p.L1702L	RAI1_uc002grn.1_Silent_p.L1702L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1702						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		TTGGGGACCTCTGTGGGCCCT	0.592		NaN											0	0	0	0.00308	0	7	48				
SLC13A2	9058	broad.mit.edu	37	17	26820718	26820718	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:26820718C>T	uc002hbh.2	+	7	1075	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	SLC13A2_uc010wal.1_Silent_p.F293F|SLC13A2_uc010wam.1_Silent_p.F292F|SLC13A2_uc010wan.1_Silent_p.F385F|SLC13A2_uc010wao.1_Silent_p.F293F|SLC13A2_uc002hbi.2_Silent_p.F265F	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	336	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCTATTCGTCATCCTGG	0.577		NaN											0	0	0	0.001984	0	7	144				
SUPT6H	6830	broad.mit.edu	37	17	27000447	27000447	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27000447G>A	uc002hby.2	+	2	118	c.28G>A	c.(28-30)GAG>AAG	p.E10K	SUPT6H_uc010crt.2_Missense_Mutation_p.E10K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	10	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAGCGAGGCTGAGGAGTCAGA	0.483		NaN											0	0	0	0.00308	0	8	47				
MYO18A	399687	broad.mit.edu	37	17	27421806	27421806	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27421806C>T	uc002hdt.1	-	30	4730	c.4572G>A	c.(4570-4572)CAG>CAA	p.Q1524Q	MYO18A_uc010wbc.1_Silent_p.Q1066Q|MYO18A_uc002hds.2_Silent_p.Q1066Q|MYO18A_uc010csa.1_Silent_p.Q1524Q|MYO18A_uc002hdu.1_Silent_p.Q1524Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1524	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGAAATGTCCTGGAGCTCTG	0.537		NaN											0	0	0	0.008291	0	10	264				
C17orf42	79736	broad.mit.edu	37	17	29227537	29227537	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29227537A>G	uc002hfu.2	-	3	609	c.539T>C	c.(538-540)ATT>ACT	p.I180T	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.I180T	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	180					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AGCCCAGGCAATTCTTCGAGT	0.338		NaN											0	0	0	0.00333	0	21	171				
NF1	4763	broad.mit.edu	37	17	29576080	29576080	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29576080C>G	uc002hgg.2	+	30	4386	c.4053C>G	c.(4051-4053)ATC>ATG	p.I1351M	NF1_uc002hgh.2_Missense_Mutation_p.I1351M|NF1_uc010csn.1_Missense_Mutation_p.I1211M|NF1_uc002hgi.1_Missense_Mutation_p.I384M	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1351	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCCATCATCAGTTCCTCCT	0.388		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.00278	0	24	260		Valid		
ACACA	31	broad.mit.edu	37	17	35512649	35512649	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:35512649G>A	uc002hnm.2	-	43	5483	c.5292C>T	c.(5290-5292)CTC>CTT	p.L1764L	ACACA_uc002hnk.2_Silent_p.L1686L|ACACA_uc002hnl.2_Silent_p.L1706L|ACACA_uc002hnn.2_Silent_p.L1764L|ACACA_uc002hno.2_Silent_p.L1801L|ACACA_uc010cuy.2_Silent_p.L409L|ACACA_uc010wdc.1_5'UTR	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1764	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACAGAGTTGAGAGCACTGA	0.358		NaN											0	0	0	0.01441	0	43	312				
LASP1	3927	broad.mit.edu	37	17	37046755	37046755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:37046755C>T	uc002hra.2	+	3	578	c.247C>T	c.(247-249)CAG>TAG	p.Q83*	LASP1_uc010wdy.1_Nonsense_Mutation_p.Q83*|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_Intron	NM_006148	NP_006139	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	83	Nebulin 1.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			lung(1)	1						GCTCCAGAGTCAGGTGAGGGG	0.597		NaN	T	MLL	AML								0	0	0	0.00245	0	13	67				
KRT24	192666	broad.mit.edu	37	17	38857538	38857538	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:38857538C>G	uc002hvd.2	-	3	766	c.709G>C	c.(709-711)GAG>CAG	p.E237Q		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	237	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				AGACACAGCTCGTTCTCATAC	0.507		NaN											0	0	0	0.001168	0	6	60				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262231	39262231	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:39262231C>A	uc010wfp.1	+	1	591	c.591C>A	c.(589-591)TCC>TCA	p.S197S		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	197						keratin filament					0						GTGTCATCTCCAGCTGCCCCC	0.512		NaN											1	0	2.74318e-10	0.006214	2.96578e-10	6	4				
KLHL11	55175	broad.mit.edu	37	17	40011443	40011443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40011443C>G	uc002hyf.1	-	2	682	c.676G>C	c.(676-678)GAT>CAT	p.D226H		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	226	BACK.					extracellular region					0		Breast(137;0.00156)				CGTATCATATCAGCAGCCTTC	0.383		NaN											0	0	0	0.01441	0	44	162				
ACLY	47	broad.mit.edu	37	17	40068681	40068681	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40068681C>T	uc002hyg.2	-	3	437	c.274G>A	c.(274-276)GAA>AAA	p.E92K	ACLY_uc002hyh.2_Missense_Mutation_p.E92K|ACLY_uc002hyi.2_Missense_Mutation_p.E146K|ACLY_uc010wfx.1_Missense_Mutation_p.E146K|ACLY_uc010wfy.1_Missense_Mutation_p.E92K	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	92					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				ACTGTGGCTTCCTGTCCCAGC	0.567		NaN											0	0	0	0.010729	0	7	111				
KAT2A	2648	broad.mit.edu	37	17	40271680	40271680	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40271680C>G	uc002hyx.2	-	5	816	c.756G>C	c.(754-756)CAG>CAC	p.Q252H		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	252					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						CGAACATCGTCTGCCGCTCCC	0.547		NaN											0	0	0	0.012319	0	19	63				
CALCOCO2	10241	broad.mit.edu	37	17	46926617	46926617	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:46926617G>A	uc002iof.2	+	5	500	c.421G>A	c.(421-423)GAG>AAG	p.E141K	CALCOCO2_uc010wlp.1_Missense_Mutation_p.E162K|CALCOCO2_uc010wlq.1_Missense_Mutation_p.E69K|CALCOCO2_uc010wlr.1_Missense_Mutation_p.E165K|CALCOCO2_uc010wls.1_Intron	NM_005831	NP_005822	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	141	Potential.				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			ovary(1)	1						TTTGTAGGGAGAGGTGGAAGA	0.463		NaN											0	0	0	0.003271	0	34	107				
SLC35B1	10237	broad.mit.edu	37	17	47780327	47780327	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:47780327G>C	uc002iph.1	-	8	896	c.809C>G	c.(808-810)TCC>TGC	p.S270C	SLC35B1_uc002ipi.1_Missense_Mutation_p.S203C|SLC35B1_uc002ipj.1_Missense_Mutation_p.S146C	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	270						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AGTGATGATGGAGCAGGTCAG	0.502		NaN											0	0	0	0.004482	0	8	127				
MRPL27	51264	broad.mit.edu	37	17	48445522	48445522	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:48445522G>C	uc002iqq.2	-	4	409	c.378C>G	c.(376-378)CTC>CTG	p.L126L	MRPL27_uc002iqr.2_3'UTR	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	126					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AAGTCTTGTAGAGCACAGCAC	0.547		NaN											0	0	0	0.014323	0	22	57				
UTP18	51096	broad.mit.edu	37	17	49374347	49374347	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:49374347C>G	uc002its.2	+	13	1717	c.1668C>G	c.(1666-1668)TTC>TTG	p.F556L		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	556				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ACTCAGACTTCTAAAGAGACT	0.373		NaN											0	0	0	0.003163	0	16	167				
MPO	4353	broad.mit.edu	37	17	56349051	56349051	+	Silent	SNP	G	G	A	rs141229223	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56349051G>A	uc002ivu.1	-	11	2172	c.1995C>T	c.(1993-1995)ATC>ATT	p.I665I		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	665					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ACTGGGTACCGATGATGCAGG	0.647		NaN											0	0	0	0.001984	0	5	46				
MPO	4353	broad.mit.edu	37	17	56350157	56350157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56350157C>G	uc002ivu.1	-	10	1921	c.1744G>C	c.(1744-1746)GAC>CAC	p.D582H		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	582					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	GCAGGCAGGTCCAGCCCAATC	0.617		NaN											0	0	0	0.010729	0	12	210				
C17orf47	284083	broad.mit.edu	37	17	56620137	56620137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56620137C>G	uc002iwq.1	-	1	1547	c.1411G>C	c.(1411-1413)GAG>CAG	p.E471Q	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	471										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGATCCTCACAGAAAGGG	0.493		NaN											0	0	0	0.008361	0	30	462				
USP32	84669	broad.mit.edu	37	17	58286164	58286164	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:58286164T>C	uc002iyo.1	-	23	2910	c.2624A>G	c.(2623-2625)AAT>AGT	p.N875S	USP32_uc002iyn.1_Missense_Mutation_p.N545S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	875					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGATCTATTTCTTCTTAG	0.348		NaN											0	0	0	0.006122	0	14	115				
FBF1	85302	broad.mit.edu	37	17	73922925	73922925	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:73922925T>C	uc002jqc.2	-	9	741	c.467A>G	c.(466-468)TAT>TGT	p.Y156C	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.Y146C|FBF1_uc002jqd.1_Missense_Mutation_p.Y156C	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	156											0						TCCTTCATCATAGGAGAGAAG	0.512		NaN											0	0	0	0.004482	0	8	21				
PRPSAP1	5635	broad.mit.edu	37	17	74307742	74307742	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:74307742G>A	uc010wta.1	-	10	1485	c.1039C>T	c.(1039-1041)CTG>TTG	p.L347L	PRPSAP1_uc010wtb.1_Silent_p.L244L	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	318					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GGACATTGCAGCTTCTGAACC	0.453		NaN											0	0	0	0.008871	0	19	102				
RNF213	57674	broad.mit.edu	37	17	78343329	78343329	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343329C>T	uc002jyh.1	+	20	6625	c.6402C>T	c.(6400-6402)TTC>TTT	p.F2134F	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.F516F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGCCCGCTTCCGGCAGATGT	0.493		NaN											0	0	0	0.01441	0	62	177				
RNF213	57674	broad.mit.edu	37	17	78343399	78343399	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343399G>A	uc002jyh.1	+	20	6695	c.6472G>A	c.(6472-6474)GAG>AAG	p.E2158K	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E540K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCTCCGCCTGAGAAGGAAGT	0.517		NaN											0	0	0	0.009718	0	42	139				
NARF	26502	broad.mit.edu	37	17	80439027	80439027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:80439027C>T	uc002kfg.3	+	7	849	c.709C>T	c.(709-711)CAG>TAG	p.Q237*	NARF_uc002kff.3_Nonsense_Mutation_p.Q178*|NARF_uc010wvo.1_Nonsense_Mutation_p.Q192*|NARF_uc010wvp.1_Nonsense_Mutation_p.Q109*|NARF_uc010dit.2_Nonsense_Mutation_p.Q237*|NARF_uc002kfj.3_Nonsense_Mutation_p.Q189*|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Nonsense_Mutation_p.Q283*|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	237						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGGCTCTTCAGGAAAGCCT	0.577		NaN											0	0	0	0.013537	0	13	182				
LAMA1	284217	broad.mit.edu	37	18	7038844	7038844	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:7038844C>T	uc002knm.2	-	11	1622	c.1528G>A	c.(1528-1530)GAT>AAT	p.D510N	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	510	Laminin EGF-like 5; first part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGACATCAGAAACGCCA	0.567		NaN											0	0	0	0.003163	0	15	179				
CEP76	79959	broad.mit.edu	37	18	12702511	12702511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:12702511G>A	uc002kri.2	-	1	193	c.37C>T	c.(37-39)CAG>TAG	p.Q13*	PSMG2_uc002krg.2_Intron|PSMG2_uc002krj.1_5'Flank|PSMG2_uc002krk.2_5'Flank|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Nonsense_Mutation_p.Q13*|CEP76_uc010xaa.1_5'Flank|CEP76_uc010xab.1_Nonsense_Mutation_p.Q13*	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	13					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						TGGATGAGCTGCTTCAGCTCG	0.706		NaN											0	0	0	0.001984	0	7	23				
ELP2	55250	broad.mit.edu	37	18	33738801	33738801	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:33738801G>T	uc002kzk.1	+	14	1478	c.1468G>T	c.(1468-1470)GAT>TAT	p.D490Y	ELP2_uc010xcg.1_Missense_Mutation_p.D555Y|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.D464Y|ELP2_uc010xch.1_Missense_Mutation_p.D485Y|ELP2_uc002kzn.1_Missense_Mutation_p.D420Y|ELP2_uc002kzo.1_Missense_Mutation_p.D420Y	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	490					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						ATTCTAGCAAGATAGTGATCT	0.308		NaN											1	0	1.28384e-07	0.012319	1.37489e-07	20	75				
KIAA1632	57724	broad.mit.edu	37	18	43495477	43495477	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:43495477T>A	uc002lbm.2	-	20	3792	c.3692A>T	c.(3691-3693)CAG>CTG	p.Q1231L	KIAA1632_uc002lbo.1_Missense_Mutation_p.Q1231L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q106L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1231					autophagy						0						GTTTCCTACCTGAGTGGGCGT	0.418		NaN											0	0	0	0.00333	0	26	84				
TCEB3B	51224	broad.mit.edu	37	18	44559494	44559494	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44559494C>T	uc002lcr.1	-	1	2495	c.2142G>A	c.(2140-2142)CTG>CTA	p.L714L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	714					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGCTGCTGCTCAGGCAGGGGT	0.522		NaN											0	0	0	0.014323	0	20	55				
KATNAL2	83473	broad.mit.edu	37	18	44589673	44589673	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44589673C>T	uc002lco.2	+	7	645	c.451C>T	c.(451-453)CTG>TTG	p.L151L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.L111L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	223						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GCTGAAACCTCTGAGTGCATT	0.468		NaN											0	0	0	0.009096	0	4	61				
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:50592482G>A	uc002lfe.1	+	7	1794	c.1207G>A	c.(1207-1209)GAA>AAA	p.E403K	DCC_uc010xdr.1_Missense_Mutation_p.E251K|DCC_uc010dpf.1_Missense_Mutation_p.E58K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	403	Extracellular (Potential).|Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438		NaN											0	0	0	0.007413	0	19	150				
ZNF236	7776	broad.mit.edu	37	18	74587572	74587572	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:74587572C>T	uc002lmi.2	+	6	984	c.786C>T	c.(784-786)TTC>TTT	p.F262F	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.F262F	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	262	C2H2-type 8.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCCGCCTTCTCTCAGAAAG	0.532		NaN									OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	137				
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:2737188G>C	uc002lwg.2	-	2	322	c.68C>G	c.(67-69)TCC>TGC	p.S23C	SLC39A3_uc010xgy.1_Missense_Mutation_p.S23C|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23C	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	23	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547		NaN											0	0	0	0.004672	0	3	27				
MATK	4145	broad.mit.edu	37	19	3781668	3781668	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:3781668C>T	uc002lyt.2	-	8	1079	c.679G>A	c.(679-681)GGC>AGC	p.G227S	MATK_uc002lyv.2_Missense_Mutation_p.G228S|MATK_uc002lyu.2_Missense_Mutation_p.G186S|MATK_uc010dtq.2_Missense_Mutation_p.G227S	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	227					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTAACCAGCCCGCTGTGGAG	0.557		NaN											0	0	0	0.009096	0	3	41				
INSR	3643	broad.mit.edu	37	19	7174599	7174599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:7174599C>T	uc002mgd.1	-	4	1227	c.1118G>A	c.(1117-1119)GGA>GAA	p.G373E	INSR_uc002mge.1_Missense_Mutation_p.G373E|INSR_uc002mgf.2_Missense_Mutation_p.G373E	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	373					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCACTGCCTCCTCGAATGTT	0.602		NaN											0	0	0	0.004482	0	9	49				
ZNF441	126068	broad.mit.edu	37	19	11891441	11891441	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:11891441C>G	uc010dyj.2	+	4	996	c.802C>G	c.(802-804)CAA>GAA	p.Q268E	ZNF441_uc002msn.3_Missense_Mutation_p.Q224E	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	268	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGTTACACTCAACTATATGA	0.383		NaN											0	0	0	0.009096	0	4	117				
MYO9B	4650	broad.mit.edu	37	19	17305659	17305659	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17305659C>G	uc010eak.2	+	22	3575	c.3423C>G	c.(3421-3423)GTC>GTG	p.V1141V	MYO9B_uc002nfi.2_Silent_p.V1141V|MYO9B_uc002nfj.1_Silent_p.V1141V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1141	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						ACGAGAAAGTCCCCAGCAGCC	0.607		NaN											0	0	0	0.009096	0	4	26				
ANO8	57719	broad.mit.edu	37	19	17440962	17440962	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17440962C>T	uc002ngf.2	-	10	1404	c.1245G>A	c.(1243-1245)AAG>AAA	p.K415K	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	415	Helical; (Potential).|Leu-rich.					chloride channel complex	chloride channel activity			ovary(3)	3						TGGCTAGCTTCTTGTAGCCCT	0.627		NaN											0	0	0	0.000602	0	5	54				
ZNF682	91120	broad.mit.edu	37	19	20117297	20117297	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:20117297C>T	uc002noq.2	-	4	1137	c.1014G>A	c.(1012-1014)GAG>GAA	p.E338E	ZNF682_uc002noo.2_Silent_p.E306E|ZNF682_uc002nop.2_Silent_p.E306E|ZNF682_uc010eck.2_Silent_p.E262E	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						TATAGGGTTTCTCTCCCGTAT	0.383		NaN											0	0	0	0.003954	0	23	114				
SLC7A9	11136	broad.mit.edu	37	19	33359415	33359415	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:33359415C>T	uc002ntv.3	-	2	143	c.26G>A	c.(25-27)CGG>CAG	p.R9Q	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.R9Q|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	9	Cytoplasmic (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATCCTCTCTCCGCTTTCTCAG	0.557		NaN											0	0	0	0.014323	0	20	148				
ZNF793	390927	broad.mit.edu	37	19	38028585	38028585	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:38028585G>C	uc010efm.2	+	8	1467	c.1025G>C	c.(1024-1026)AGA>ACA	p.R342T	ZNF793_uc010xts.1_Missense_Mutation_p.R342T|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	342	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCGTTGCAGAGAATGTGGA	0.453		NaN											0	0	0	0.000602	0	4	70				
SAMD4B	55095	broad.mit.edu	37	19	39868169	39868169	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:39868169G>A	uc002olb.2	+	10	2184	c.1149G>A	c.(1147-1149)CTG>CTA	p.L383L	SAMD4B_uc002ola.2_Silent_p.L383L	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	383							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGCAGGAGCTGCAGCAGATCA	0.627		NaN											0	0	0	0.001168	0	5	75				
PSG5	5673	broad.mit.edu	37	19	43680125	43680125	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:43680125G>A	uc002ovu.2	-	3	737	c.606C>T	c.(604-606)CTC>CTT	p.L202L	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.L202L|PSG5_uc002ovv.2_Silent_p.L295L|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	202	Ig-like C2-type 1.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				TGGGTAGAATGAGGATCCTGT	0.507		NaN											0	0	0	0.00308	0	6	277				
PLAUR	5329	broad.mit.edu	37	19	44169603	44169603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44169603C>T	uc002oxf.1	-	3	405	c.175G>A	c.(175-177)GAG>AAG	p.E59K	PLAUR_uc002oxd.1_Missense_Mutation_p.E59K|PLAUR_uc002oxe.1_Missense_Mutation_p.E54K|PLAUR_uc002oxg.1_Missense_Mutation_p.E59K	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	59	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGCTCCAGCTCTTCTCCTTCT	0.557		NaN											0	0	0	0.001168	0	6	89				
ZNF285	26974	broad.mit.edu	37	19	44896514	44896514	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44896514G>A	uc002ozd.3	-	3	219	c.132C>T	c.(130-132)CTC>CTT	p.L44L	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.L51L	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TCACTAACATGAGGTTCCTGA	0.428		NaN											0	0	0	0.00499	0	16	192				
CCDC9	26093	broad.mit.edu	37	19	47761897	47761897	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:47761897G>C	uc010xym.1	+	3	292	c.85G>C	c.(85-87)GAG>CAG	p.E29Q		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	29											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGAAGAATGAGGCCCTCAT	0.552		NaN											0	0	0	0.009096	0	3	74				
VN1R4	317703	broad.mit.edu	37	19	53770061	53770061	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:53770061C>G	uc010ydu.1	-	1	858	c.858G>C	c.(856-858)ATG>ATC	p.M286I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	286	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		GGTCACAGCTCATGAGAACAA	0.393		NaN								HNSCC(26;0.072)			0	0	0	0.000602	0	5	82				
TMC4	147798	broad.mit.edu	37	19	54667458	54667458	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:54667458G>A	uc010erf.2	-	8	1425	c.1293C>T	c.(1291-1293)CTC>CTT	p.L431L	TMC4_uc002qdn.2_Nonsense_Mutation_p.Q122*|TMC4_uc002qdo.2_Silent_p.L425L	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	431	Helical; (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGAACCTGAGCAGGATAA	0.567		NaN									OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.001168	0	6	74				
LILRB1	10859	broad.mit.edu	37	19	55147018	55147018	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:55147018G>A	uc002qgj.2	+	14	1948	c.1608G>A	c.(1606-1608)GTG>GTA	p.V536V	LILRB1_uc010erp.1_Silent_p.V151V|LILRB1_uc002qgl.2_Silent_p.V536V|LILRB1_uc002qgk.2_Silent_p.V537V|LILRB1_uc002qgm.2_Silent_p.V537V|LILRB1_uc010erq.2_Silent_p.V520V|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	536	Cytoplasmic (Potential).|ITIM motif 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		ATGCTGCCGTGAAGCACACAC	0.627		NaN								HNSCC(37;0.09)			0	0	0	0.00308	0	5	137				
LPIN1	23175	broad.mit.edu	37	2	11911647	11911647	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:11911647G>A	uc010yjn.1	+	5	712	c.438G>A	c.(436-438)CCG>CCA	p.P146P	LPIN1_uc010yjm.1_Silent_p.P195P|LPIN1_uc002rbt.2_Silent_p.P146P|LPIN1_uc002rbs.2_Silent_p.P146P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	146					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCGAGACGCCGTCAAGCAGCT	0.537		NaN											0	0	0	0.004007	0	14	23				
PUM2	23369	broad.mit.edu	37	2	20478508	20478508	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:20478508G>C	uc002rds.1	-	12	1816	c.1793C>G	c.(1792-1794)TCT>TGT	p.S598C	PUM2_uc002rdq.1_Translation_Start_Site|PUM2_uc002rdt.1_Missense_Mutation_p.S598C|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.S598C|PUM2_uc010yjz.1_Missense_Mutation_p.S537C	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	598	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACTAGATCTTTTGTA	0.438		NaN											0	0	0	0.009096	0	4	225				
APOB	338	broad.mit.edu	37	2	21228021	21228021	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:21228021C>T	uc002red.2	-	26	11847	c.11719G>A	c.(11719-11721)GAT>AAT	p.D3907N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3907					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAACATAATCTGCTTTGTTT	0.428		NaN											0	0	0	0.009718	0	44	129				
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:25990452T>A	uc002rgs.2	-	7	996	c.775A>T	c.(775-777)AGA>TGA	p.R259*	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373		NaN											0	0	0	0.005443	0	28	73				
CENPA	1058	broad.mit.edu	37	2	27016087	27016087	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27016087C>G	uc002rhr.2	+	4	546	c.363C>G	c.(361-363)CTC>CTG	p.L121L	CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.L95L	NM_001809	NP_001800	P49450	CENPA_HUMAN	centromere protein A isoform a	121	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTACTCTCTTCCCAAAGG	0.542		NaN											0	0	0	0.01441	0	56	310				
C2orf53	339779	broad.mit.edu	37	2	27360613	27360613	+	Silent	SNP	G	G	A	rs137967723	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27360613G>A	uc002rjb.2	-	3	1165	c.585C>T	c.(583-585)TGC>TGT	p.C195C		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	195											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTTGGCACGCATCTCTCCA	0.657		NaN											0	0	0	0.010729	0	10	51				
SUPT7L	9913	broad.mit.edu	37	2	27884232	27884232	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27884232G>A	uc002rlh.1	-	3	381	c.38C>T	c.(37-39)TCA>TTA	p.S13L	SUPT7L_uc002rli.1_Missense_Mutation_p.S13L|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.S11L|SUPT7L_uc010ezh.1_Missense_Mutation_p.S11L|SLC4A1AP_uc002rlk.3_5'Flank	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	13					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					CTGGCTTGATGATATTGGTAT	0.448		NaN											0	0	0	0.006214	0	9	102				
HEATR5B	54497	broad.mit.edu	37	2	37287790	37287790	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:37287790C>G	uc002rpp.1	-	12	1879	c.1783G>C	c.(1783-1785)GAG>CAG	p.E595Q		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	595							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				CGGGCCTTCTCAGCTTCCAAT	0.448		NaN											0	0	0	0.013537	0	13	130				
THADA	63892	broad.mit.edu	37	2	43519295	43519295	+	Missense_Mutation	SNP	G	G	C	rs34600960		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:43519295G>C	uc002rsw.3	-	33	5237	c.4885C>G	c.(4885-4887)CTG>GTG	p.L1629V	THADA_uc010far.2_Missense_Mutation_p.L824V|THADA_uc002rsx.3_Missense_Mutation_p.L1629V|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1629							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGGGGTCAGATGGACACAG	0.488		NaN											0	0	0	0.009096	0	3	17				
NRXN1	9378	broad.mit.edu	37	2	50779755	50779755	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:50779755G>A	uc010fbq.2	-	9	3326	c.1849C>T	c.(1849-1851)CAT>TAT	p.H617Y	NRXN1_uc002rxb.3_Missense_Mutation_p.H249Y|NRXN1_uc002rxe.3_Missense_Mutation_p.H577Y|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGTCCACATGATACCATTCT	0.458		NaN											0	0	0	0.006214	0	8	173				
ETAA1	54465	broad.mit.edu	37	2	67637048	67637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:67637048G>C	uc002sdz.1	+	6	2798	c.2659G>C	c.(2659-2661)GAA>CAA	p.E887Q		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	887	Poly-Glu.					cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						TTTAGAGGAAGAAGAGAAAAA	0.333		NaN											0	0	0	0.001855	0	13	199				
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:74757145G>A	uc002smi.1	+	1	614	c.12G>A	c.(10-12)CCG>CCA	p.P4P	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGGCTGCGCCGAGGGCGGGGC	0.741		NaN											0	0	0	0.004672	0	3	24				
REV1	51455	broad.mit.edu	37	2	100019387	100019387	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:100019387G>A	uc002tad.2	-	20	3561	c.3349C>T	c.(3349-3351)CTA>TTA	p.L1117L	REV1_uc002tac.2_Silent_p.L1116L	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	1117					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						TCATGTTTTAGAAACCCATCA	0.408		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.013537	0	12	154				
MAP3K2	10746	broad.mit.edu	37	2	128066317	128066317	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:128066317G>C	uc002toj.1	-	15	1543	c.1478C>G	c.(1477-1479)TCA>TGA	p.S493*		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	493	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTTGCCTGTTGAATCTCGCAG	0.433		NaN											0	0	0	0.001855	0	13	146				
R3HDM1	23518	broad.mit.edu	37	2	136433011	136433011	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:136433011G>C	uc002tuo.2	+	19	2527	c.2157G>C	c.(2155-2157)CAG>CAC	p.Q719H	R3HDM1_uc010fni.2_Missense_Mutation_p.Q718H|R3HDM1_uc002tup.2_Missense_Mutation_p.Q664H|R3HDM1_uc010zbh.1_Missense_Mutation_p.Q467H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	719							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGGAAATCAGATTCAAGGAG	0.423		NaN											0	0	0	0.010729	0	10	135				
ZEB2	9839	broad.mit.edu	37	2	145157492	145157492	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:145157492C>T	uc002tvu.2	-	8	1742	c.1262G>A	c.(1261-1263)GGA>GAA	p.G421E	ZEB2_uc002tvv.2_Missense_Mutation_p.G415E|ZEB2_uc010zbm.1_Missense_Mutation_p.G392E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G450E	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	421						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGGTGGCTCCAAGCCCACC	0.453		NaN											0	0	0	0.004007	0	17	99				
TANC1	85461	broad.mit.edu	37	2	160035372	160035372	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160035372C>T	uc002uag.2	+	14	2482	c.2208C>T	c.(2206-2208)CTC>CTT	p.L736L	TANC1_uc010fol.1_Silent_p.L630L|TANC1_uc010zcm.1_Silent_p.L728L|TANC1_uc010fom.1_Silent_p.L542L|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	736						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TCTCTGAGCTCTATTTGCTTC	0.552		NaN											0	0	0	0.008361	0	29	268				
BAZ2B	29994	broad.mit.edu	37	2	160295645	160295645	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160295645C>T	uc002uao.2	-	7	1127	c.775G>A	c.(775-777)GGC>AGC	p.G259S	BAZ2B_uc002uap.2_Missense_Mutation_p.G257S|BAZ2B_uc002uas.1_Missense_Mutation_p.G196S|BAZ2B_uc002uau.1_Missense_Mutation_p.G257S|BAZ2B_uc002uaq.1_Missense_Mutation_p.G187S|BAZ2B_uc002uat.3_Missense_Mutation_p.G196S|BAZ2B_uc010fop.1_Missense_Mutation_p.G257S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	259	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTACTAATGCCTTCACTTGAG	0.348		NaN											0	0	0	0.013726	0	35	235				
C2orf77	129881	broad.mit.edu	37	2	170502533	170502533	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:170502533G>C	uc002ufe.2	-	9	1571	c.1477C>G	c.(1477-1479)CTT>GTT	p.L493V		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	493											0						GCTTTTACAAGAGGGTAAATA	0.433		NaN											0	0	0	0.01441	0	71	174				
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179397871C>G	uc010zfg.1	-	307	95991	c.95767G>C	c.(95767-95769)GAA>CAA	p.E31923Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25618Q|TTN_uc010zfi.1_Missense_Mutation_p.E25551Q|TTN_uc010zfj.1_Missense_Mutation_p.E25426Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACACTTTCAGTTCCAGAA	0.433		NaN											0	0	0	0.00245	0	15	206				
TTN	7273	broad.mit.edu	37	2	179477688	179477688	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179477688A>G	uc010zfg.1	-	214	42280	c.42056T>C	c.(42055-42057)GTC>GCC	p.V14019A	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7714A|TTN_uc010zfi.1_Missense_Mutation_p.V7647A|TTN_uc010zfj.1_Missense_Mutation_p.V7522A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14946							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTCAATGACATAAGACTC	0.478		NaN											0	0	0	0.00308	0	8	62				
DNER	92737	broad.mit.edu	37	2	230312236	230312236	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:230312236C>T	uc002vpv.2	-	8	1429	c.1282G>A	c.(1282-1284)GAA>AAA	p.E428K	DNER_uc010zly.1_Missense_Mutation_p.E156K	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	428	Extracellular (Potential).|EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACCTTTTCTTCACAAGCAGAT	0.483		NaN											0	0	0	0.009096	0	4	31				
RBM44	375316	broad.mit.edu	37	2	238726510	238726510	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:238726510G>C	uc002vxi.3	+	3	1083	c.951G>C	c.(949-951)TTG>TTC	p.L317F		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	316							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTGGTTCCTTGAGCCCTCAAA	0.318		NaN											0	0	0	0.001168	0	6	48				
UQCC	55245	broad.mit.edu	37	20	33969816	33969816	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:33969816T>C	uc002xcd.2	-	4	305	c.238A>G	c.(238-240)AAA>GAA	p.K80E	UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.K80E|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.K80E|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.K34E|UQCC_uc010gfd.1_Missense_Mutation_p.K66E	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	80						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGAATCTTTGGTAGTAGAA	0.358		NaN											0	0	0	0.01441	0	91	251				
IFT52	51098	broad.mit.edu	37	20	42271258	42271258	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:42271258G>C	uc002xkw.2	+	13	1382	c.1260G>C	c.(1258-1260)TTG>TTC	p.L420F	IFT52_uc002xky.2_Missense_Mutation_p.L420F|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.L396F|IFT52_uc002xkz.2_Intron	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	420						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAAGAAATTGAACCAGGTAC	0.463		NaN											0	0	0	0.001984	0	5	60				
MMP9	4318	broad.mit.edu	37	20	44640217	44640217	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:44640217C>G	uc002xqz.2	+	6	847	c.828C>G	c.(826-828)CTC>CTG	p.L276L		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	276					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCCAGGACTCTACACCCAGG	0.577		NaN									OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	66				
DDX27	55661	broad.mit.edu	37	20	47841697	47841697	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:47841697C>T	uc002xuh.2	+	6	715	c.654C>T	c.(652-654)CTC>CTT	p.L218L		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	218	Q motif.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGAAAACCTCTCGTTCCAGG	0.338		NaN											0	0	0	0.007413	0	17	238				
STX16	8675	broad.mit.edu	37	20	57251299	57251299	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:57251299C>T	uc002xzi.2	+	9	1665	c.930C>T	c.(928-930)GTC>GTT	p.V310V	STX16_uc010zzq.1_Silent_p.V124V|STX16_uc002xzk.2_Silent_p.V293V|STX16_uc002xzm.2_Silent_p.V306V|STX16_uc002xzj.2_Silent_p.V289V|STX16_uc002xzl.2_Silent_p.V124V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	310	Helical; Anchor for type IV membrane protein; (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TATTATTTGTCATCATCATTG	0.448		NaN											0	0	0	0.00278	0	21	185				
COL20A1	57642	broad.mit.edu	37	20	61944555	61944555	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:61944555C>T	uc011aau.1	+	17	2263	c.2163C>T	c.(2161-2163)TAC>TAT	p.Y721Y	COL20A1_uc011aav.1_Silent_p.Y542Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	721	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGGCCTACTACAGGGACGGGG	0.657		NaN											0	0	0	0.009096	0	3	32				
CLIC6	54102	broad.mit.edu	37	21	36088774	36088774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:36088774G>A	uc010gmt.1	+	7	2109	c.2109G>A	c.(2107-2109)ATG>ATA	p.M703I	CLIC6_uc002yuf.1_Missense_Mutation_p.M685I	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	703	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						CAAAAAGAATGAAATGAAGCT	0.373		NaN											0	0	0	0.001168	0	6	100				
PSMG1	8624	broad.mit.edu	37	21	40547517	40547517	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547517C>G	uc002yxi.2	-	7	995	c.866G>C	c.(865-867)TGA>TCA	p.*289S	PSMG1_uc002yxj.2_Nonstop_Mutation_p.*268S|PSMG1_uc010gob.2_Nonstop_Mutation_p.*202S	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	289					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				TGTTTAAGATCATGTATAAAT	0.333		NaN									OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	77				
PSMG1	8624	broad.mit.edu	37	21	40547542	40547542	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547542C>G	uc002yxi.2	-	7	970	c.841G>C	c.(841-843)GAG>CAG	p.E281Q	PSMG1_uc002yxj.2_Missense_Mutation_p.E260Q|PSMG1_uc010gob.2_Missense_Mutation_p.E194Q	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	281					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				CTCTGAATCTCATTTGTTGTC	0.368		NaN									OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	84				
DSCAM	1826	broad.mit.edu	37	21	41427661	41427661	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:41427661C>G	uc002yyq.1	-	29	5478	c.5026G>C	c.(5026-5028)GAG>CAG	p.E1676Q	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1676	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAATGGTCTCCATCGTGTCT	0.493		NaN											0	0	0	0.008871	0	20	68				
CECR2	27443	broad.mit.edu	37	22	18022144	18022144	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:18022144C>G	uc010gqw.1	+	15	2372	c.2246C>G	c.(2245-2247)TCT>TGT	p.S749C	CECR2_uc010gqv.1_Missense_Mutation_p.S608C|CECR2_uc002zml.2_Missense_Mutation_p.S608C	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	791					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGTACACTCTGCCGTCTGG	0.582		NaN											0	0	0	0.001984	0	7	43				
SERPIND1	3053	broad.mit.edu	37	22	21140347	21140347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:21140347G>T	uc002ztb.1	+	4	1286	c.1219G>T	c.(1219-1221)GAG>TAG	p.E407*	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.E435*	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	407					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CAATCTAGTGGAGTCCCTGAA	0.483		NaN											1	0	6.31663e-08	0.003163	6.78064e-08	15	198				
TFIP11	24144	broad.mit.edu	37	22	26894901	26894901	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:26894901C>A	uc003acr.2	-	9	1744	c.1370G>T	c.(1369-1371)AGC>ATC	p.S457I	TFIP11_uc003acs.2_Missense_Mutation_p.S457I|TFIP11_uc003act.2_Missense_Mutation_p.S457I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	457					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCTAGGAGGCTTTTCCACTT	0.572		NaN											1	0	7.48243e-07	0.006214	7.9942e-07	10	253				
SEC14L2	23541	broad.mit.edu	37	22	30806616	30806616	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:30806616C>G	uc003ahr.2	+	8	785	c.612C>G	c.(610-612)CTC>CTG	p.L204L	SEC14L2_uc003ahq.2_Silent_p.L204L|SEC14L2_uc011akx.1_Silent_p.L150L|SEC14L2_uc003ahs.2_Silent_p.L130L|SEC14L2_uc011aky.1_Silent_p.L121L|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Silent_p.L28L|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_RNA|MTP18_uc010gvx.1_5'UTR|MTP18_uc003ahv.1_Silent_p.L28L|MTP18_uc010gvy.1_Silent_p.L28L	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	204	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	CCTATAACCTCATCAAACCCT	0.527		NaN											0	0	0	0.009096	0	3	133				
CYP2D6	1565	broad.mit.edu	37	22	42523515	42523515	+	Silent	SNP	G	G	A	rs149686350		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42523515G>A	uc003bce.2	-	7	1197	c.1107C>T	c.(1105-1107)ATC>ATT	p.I369I	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Silent_p.I63I|CYP2D6_uc003bcf.2_Silent_p.I318I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	369							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						CCAGGGGGACGATGTCCCCAA	0.612		NaN											0	0	0	0.000602	0	4	41				
C22orf9	23313	broad.mit.edu	37	22	45593787	45593787	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:45593787G>A	uc003bfx.1	-	9	1124	c.1058C>T	c.(1057-1059)TCG>TTG	p.S353L	C22orf9_uc010gzw.1_Missense_Mutation_p.S205L|C22orf9_uc003bfv.1_Missense_Mutation_p.S362L|C22orf9_uc003bfw.1_Missense_Mutation_p.S358L|C22orf9_uc010gzx.2_Missense_Mutation_p.S335L	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	353							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		TCCTGTGCCCGACAGGGACCG	0.607		NaN											0	0	0	0.00245	0	13	91				
CNTN6	27255	broad.mit.edu	37	3	1418703	1418703	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:1418703C>T	uc003boz.2	+	17	2377	c.2110C>T	c.(2110-2112)CCA>TCA	p.P704S	CNTN6_uc011asj.1_Missense_Mutation_p.P632S|CNTN6_uc003bpa.2_Missense_Mutation_p.P704S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	704	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTTGTGGCACCAGTAAACAT	0.378		NaN											0	0	0	0.004482	0	8	211				
HRH1	3269	broad.mit.edu	37	3	11301597	11301597	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:11301597G>A	uc010hdr.2	+	2	1216	c.874G>A	c.(874-876)GAG>AAG	p.E292K	HRH1_uc010hds.2_Missense_Mutation_p.E292K|HRH1_uc010hdt.2_Missense_Mutation_p.E292K|HRH1_uc003bwb.3_Missense_Mutation_p.E292K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	292	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTCAGCCAAGAGGATGATAG	0.493		NaN											0	0	0	0.00308	0	8	127				
IQSEC1	9922	broad.mit.edu	37	3	12977699	12977699	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:12977699C>T	uc003bxt.2	-	3	868	c.859G>A	c.(859-861)GGC>AGC	p.G287S	IQSEC1_uc003bxu.3_Missense_Mutation_p.G165S|IQSEC1_uc011auw.1_Missense_Mutation_p.G273S	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	287					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TGGTCCATGCCGTGCAGGGCT	0.662		NaN											0	0	0	0.010729	0	12	97				
FGD5	152273	broad.mit.edu	37	3	14861786	14861786	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:14861786G>C	uc003bzc.2	+	1	1318	c.1208G>C	c.(1207-1209)GGA>GCA	p.G403A	FGD5_uc011avk.1_Missense_Mutation_p.G403A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	403					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						CTACAGGGTGGAGCGGCCGAG	0.632		NaN											0	0	0	0.004672	0	3	27				
SUSD5	26032	broad.mit.edu	37	3	33194715	33194715	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:33194715G>C	uc003cfo.1	-	5	1827	c.1409C>G	c.(1408-1410)TCA>TGA	p.S470*		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	470	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GGGTAGAGTTGACTGGTACTT	0.517		NaN											0	0	0	0.004672	0	3	61				
TRANK1	9881	broad.mit.edu	37	3	36874809	36874809	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:36874809C>T	uc003cgj.2	-	12	4785	c.4483G>A	c.(4483-4485)GAA>AAA	p.E1495K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2045					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGGAGGATTTCCAAGCCCCCT	0.532		NaN											0	0	0	0.001984	0	6	91				
SETD2	29072	broad.mit.edu	37	3	47158213	47158213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:47158213G>A	uc003cqs.2	-	4	4539	c.4486C>T	c.(4486-4488)CGA>TGA	p.R1496*	SETD2_uc003cqv.2_Nonsense_Mutation_p.R1485*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1496	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACTGCATTCGCTTAATATCT	0.313		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.010729	0	12	139		Valid		
COL7A1	1294	broad.mit.edu	37	3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:48609570C>T	uc003ctz.2	-	90	7014	c.7013G>A	c.(7012-7014)CGA>CAA	p.R2338Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612		NaN											0	0	0	0.004482	0	7	30				
ZMYND10	51364	broad.mit.edu	37	3	50379109	50379109	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:50379109C>T	uc003dag.1	-	11	1289	c.1143G>A	c.(1141-1143)CTG>CTA	p.L381L	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.L376L	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	381						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTAGCACATCCAGCCTGTAGG	0.612		NaN								TSP Lung(30;0.18)			0	0	0	0.007413	0	12	67				
STAB1	23166	broad.mit.edu	37	3	52547984	52547984	+	Missense_Mutation	SNP	G	G	T	rs149300853		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:52547984G>T	uc003dej.2	+	32	3508	c.3434G>T	c.(3433-3435)CGG>CTG	p.R1145L		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1145	FAS1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCCTCTTCCGGGAATTGCTG	0.652		NaN											1	0	1.49906e-05	0.00245	1.57193e-05	11	171				
PDE12	201626	broad.mit.edu	37	3	57543244	57543244	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57543244G>A	uc003diw.3	+	1	1264	c.1138G>A	c.(1138-1140)GAA>AAA	p.E380K	PDE12_uc003div.2_Missense_Mutation_p.E380K	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	380							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAAGCAGCACGAAGGCCTGGC	0.537		NaN											0	0	0	0.009096	0	4	74				
FLNB	2317	broad.mit.edu	37	3	57994493	57994493	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57994493C>G	uc003djj.2	+	1	367	c.202C>G	c.(202-204)CAG>GAG	p.Q68E	FLNB_uc010hne.2_Missense_Mutation_p.Q68E|FLNB_uc003djk.2_Missense_Mutation_p.Q68E|FLNB_uc010hnf.2_Missense_Mutation_p.Q68E	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	68	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGTACCATCAGCGGCCCAC	0.617		NaN											0	0	0	0.001168	0	5	124				
PXK	54899	broad.mit.edu	37	3	58377546	58377546	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58377546G>A	uc003djz.1	+	7	686	c.587G>A	c.(586-588)TGT>TAT	p.C196Y	PXK_uc003djx.1_Missense_Mutation_p.C196Y|PXK_uc003djy.1_Missense_Mutation_p.C179Y|PXK_uc003dka.1_Missense_Mutation_p.C196Y|PXK_uc003dkb.1_Missense_Mutation_p.C113Y|PXK_uc003dkc.1_Missense_Mutation_p.C179Y|PXK_uc011bfe.1_Missense_Mutation_p.C163Y|PXK_uc010hnj.1_Missense_Mutation_p.C163Y|PXK_uc003dkd.1_Missense_Mutation_p.C59Y|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	196	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTCAGTGTCTAATCAAA	0.383		NaN											0	0	0	0.014323	0	20	233				
ACOX2	8309	broad.mit.edu	37	3	58508267	58508267	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58508267C>T	uc003dkl.2	-	12	1763	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	530					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTCCAAGCCTCGTGCTGGTCA	0.532		NaN											0	0	0	0.005443	0	23	75				
ATXN7	6314	broad.mit.edu	37	3	63938123	63938123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63938123C>T	uc003dlw.3	+	5	1016	c.463C>T	c.(463-465)CAG>TAG	p.Q155*	ATXN7_uc003dlv.2_Nonsense_Mutation_p.Q155*|ATXN7_uc010hnv.2_Nonsense_Mutation_p.Q155*	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	155					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGACTGTAATCAGGTTGTCAA	0.373		NaN											0	0	0	0.00245	0	14	175				
ATXN7	6314	broad.mit.edu	37	3	63975994	63975994	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63975994G>A	uc003dlw.3	+	10	2057	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	ATXN7_uc003dlv.2_Missense_Mutation_p.E502K|ATXN7_uc010hnv.2_Missense_Mutation_p.E502K|ATXN7_uc011bfn.1_Missense_Mutation_p.E357K	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	502					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGACAAAGAAGAGTCTGTTGA	0.552		NaN											0	0	0	0.001168	0	5	103				
C3orf64	285203	broad.mit.edu	37	3	69027583	69027583	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:69027583G>A	uc003dnl.2	-	17	1743	c.1338C>T	c.(1336-1338)TAC>TAT	p.Y446Y	C3orf64_uc003dnj.2_Silent_p.Y125Y|C3orf64_uc003dnk.2_Silent_p.Y362Y|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	446						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		CTTCACAGTTGTACCTAAGGA	0.453		NaN											0	0	0	0.010729	0	12	138				
FOXP1	27086	broad.mit.edu	37	3	71050197	71050197	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:71050197C>G	uc003dol.2	-	9	1311	c.988G>C	c.(988-990)GAG>CAG	p.E330Q	FOXP1_uc003dom.2_Missense_Mutation_p.E254Q|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E330Q|FOXP1_uc003dop.2_Missense_Mutation_p.E330Q|FOXP1_uc003doq.1_Missense_Mutation_p.E329Q|FOXP1_uc003doi.2_Missense_Mutation_p.E230Q|FOXP1_uc003doj.2_Missense_Mutation_p.E230Q|FOXP1_uc003dok.2_Missense_Mutation_p.E143Q|FOXP1_uc003dor.1_Missense_Mutation_p.E108Q	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	330	C2H2-type.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCGCATGCTCACTGTTGAGA	0.353		NaN	T	PAX5	ALL								0	0	0	0.008291	0	9	123				
OR5K1	26339	broad.mit.edu	37	3	98188798	98188798	+	Silent	SNP	A	A	C	rs112214721		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98188798A>C	uc003dsm.2	+	1	378	c.378A>C	c.(376-378)ATA>ATC	p.I126I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						ATGTGGCCATATGCAACCCAC	0.468		NaN											0	0	0	0.009535	0	31	247				
OR5K2	402135	broad.mit.edu	37	3	98216586	98216586	+	Missense_Mutation	SNP	C	C	T	rs143260385	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98216586C>T	uc011bgx.1	+	1	62	c.62C>T	c.(61-63)CCT>CTT	p.P21L		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						ACAGATCACCCTGAGCTGAAG	0.413		NaN											0	0	0	0.00245	0	14	256				
MYH15	22989	broad.mit.edu	37	3	108129603	108129603	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:108129603G>C	uc003dxa.1	-	32	4439	c.4382C>G	c.(4381-4383)TCT>TGT	p.S1461C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1461	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						GGCCTTGCCAGACTGCAGCTG	0.632		NaN											0	0	0	0.001168	0	5	67				
DPPA4	55211	broad.mit.edu	37	3	109050829	109050829	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:109050829C>T	uc003dxq.3	-	3	283	c.228G>A	c.(226-228)CAG>CAA	p.Q76Q	DPPA4_uc011bho.1_Silent_p.Q76Q|DPPA4_uc011bhp.1_Silent_p.Q76Q	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	76						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GTATCTTCTTCTGAGGTCTGG	0.458		NaN											0	0	0	0.004289	0	35	228				
GOLGB1	2804	broad.mit.edu	37	3	121412961	121412961	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121412961C>G	uc003eei.3	-	13	6520	c.6394G>C	c.(6394-6396)GAG>CAG	p.E2132Q	GOLGB1_uc010hrc.2_Missense_Mutation_p.E2137Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E2098Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E2018Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E2096Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2132	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AGGTGCTTCTCTTCTGCCTGT	0.398		NaN											0	0	0	0.01441	0	72	577				
GOLGB1	2804	broad.mit.edu	37	3	121413280	121413280	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121413280C>T	uc003eei.3	-	13	6201	c.6075G>A	c.(6073-6075)CAG>CAA	p.Q2025Q	GOLGB1_uc010hrc.2_Silent_p.Q2030Q|GOLGB1_uc003eej.3_Silent_p.Q1991Q|GOLGB1_uc011bjm.1_Silent_p.Q1911Q|GOLGB1_uc010hrd.1_Silent_p.Q1989Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2025	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGTCCTTCTGTAGCTGCT	0.358		NaN											0	0	0	0.009535	0	31	363				
KPNA1	3836	broad.mit.edu	37	3	122186201	122186201	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122186201C>T	uc003efd.1	-	3	241	c.205G>A	c.(205-207)GAG>AAG	p.E69K	KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.E69K	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	69					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		ATCTGAGCCTCATGAAAGCCT	0.363		NaN											0	0	0	0.00308	0	8	95				
PDIA5	10954	broad.mit.edu	37	3	122811201	122811201	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122811201G>A	uc003egc.1	+	3	226	c.170_splice	c.e3-1	p.E57_splice	PDIA5_uc003egd.1_Splice_Site	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor						cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		TTTTTTTACAGAGGTGGCAGC	0.502		NaN											0	0	0	0.006214	0	10	104				
PLSCR5	389158	broad.mit.edu	37	3	146311797	146311797	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:146311797C>T	uc003ewb.2	-	4	1367	c.363G>A	c.(361-363)CTG>CTA	p.L121L	PLSCR5_uc010hvb.2_Silent_p.L109L|PLSCR5_uc010hvc.2_Silent_p.L121L	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	121											0						CTGTGATCCTCAGGGTGCAAG	0.453		NaN											0	0	0	0.008291	0	11	223				
SAMD7	344658	broad.mit.edu	37	3	169644760	169644760	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:169644760C>T	uc003fgd.2	+	6	977	c.710C>T	c.(709-711)TCA>TTA	p.S237L	SAMD7_uc003fge.2_Missense_Mutation_p.S237L|SAMD7_uc011bpo.1_Missense_Mutation_p.S138L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	237										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACCAGAAGTCAAGTGAAACG	0.498		NaN											0	0	0	0.012319	0	22	124				
SPATA16	83893	broad.mit.edu	37	3	172643146	172643146	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:172643146C>G	uc003fin.3	-	7	1376	c.1218G>C	c.(1216-1218)CCG>CCC	p.P406P		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	406					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGTGAATATCGGCAGCTTCC	0.373		NaN											0	0	0	0.004672	0	3	92				
USP13	8975	broad.mit.edu	37	3	179448467	179448467	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179448467C>G	uc003fkh.2	+	10	1305	c.1224C>G	c.(1222-1224)CTC>CTG	p.L408L	USP13_uc003fkf.2_Silent_p.L408L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	408					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATCTGAACTCATTGAACAGG	0.468		NaN											0	0	0	0.008291	0	8	95				
PEX5L	51555	broad.mit.edu	37	3	179526147	179526147	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179526147C>G	uc003fki.1	-	13	1561	c.1431G>C	c.(1429-1431)CAG>CAC	p.Q477H	PEX5L_uc011bqd.1_Missense_Mutation_p.Q434H|PEX5L_uc011bqe.1_Missense_Mutation_p.Q285H|PEX5L_uc011bqf.1_Missense_Mutation_p.Q369H|PEX5L_uc003fkj.1_Missense_Mutation_p.Q442H|PEX5L_uc010hxd.1_Missense_Mutation_p.Q475H|PEX5L_uc011bqg.1_Missense_Mutation_p.Q453H|PEX5L_uc011bqh.1_Missense_Mutation_p.Q418H	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	477	TPR 3.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTAGACCTGTCTGCAGGTCTG	0.443		NaN											0	0	0	0.010729	0	11	159				
KLHL6	89857	broad.mit.edu	37	3	183217456	183217456	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:183217456C>G	uc003flr.2	-	4	1127	c.1069G>C	c.(1069-1071)GAG>CAG	p.E357Q	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	357	Kelch 1.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AGCTCATGCTCTGTTAGCGGG	0.552		NaN											0	0	0	0.004007	0	15	218				
TRA2B	6434	broad.mit.edu	37	3	185636158	185636158	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:185636158G>A	uc003fpv.2	-	8	1127	c.851C>T	c.(850-852)TCA>TTA	p.S284L	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.S184L|TRA2B_uc003fpw.2_Missense_Mutation_p.S264L	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	284	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CTTACGAGGTGAGTATGATCG	0.378		NaN											0	0	0	0.004482	0	8	167				
ZNF595	152687	broad.mit.edu	37	4	87139	87139	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:87139A>G	uc003fzv.1	+	6	1901	c.1745A>G	c.(1744-1746)CAT>CGT	p.H582R	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.H350R|ZNF595_uc011but.1_Missense_Mutation_p.H350R	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	582					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CTTACTAAACATAAGAGAATT	0.373		NaN											0	0	0	0.006122	0	19	49				
WHSC1	7468	broad.mit.edu	37	4	1980413	1980413	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:1980413C>T	uc003gdz.3	+	22	4051	c.3875C>T	c.(3874-3876)TCG>TTG	p.S1292L	WHSC1_uc003geb.3_Missense_Mutation_p.S1292L|WHSC1_uc003gec.3_Missense_Mutation_p.S1292L|WHSC1_uc003ged.3_Missense_Mutation_p.S1292L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S511L|WHSC1_uc011bvh.1_Missense_Mutation_p.S353L|WHSC1_uc010icf.2_Missense_Mutation_p.S640L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1292					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCAAACCTTCGACTTCATTT	0.542		NaN	T	IGH@	MM								0	0	0	0.010729	0	12	89				
KIAA0232	9778	broad.mit.edu	37	4	6873346	6873346	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:6873346G>A	uc003gjr.3	+	8	4310	c.3847G>A	c.(3847-3849)GAA>AAA	p.E1283K	KIAA0232_uc003gjq.3_Missense_Mutation_p.E1283K	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1283							ATP binding			ovary(2)	2						TAGAAGTCAAGAAAAACAGAC	0.353		NaN											0	0	0	0.003163	0	15	107				
TLR6	10333	broad.mit.edu	37	4	38831092	38831092	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:38831092C>T	uc003gtm.2	-	1	69	c.3G>A	c.(1-3)ATG>ATA	p.M1I	TLR6_uc010ifg.1_Missense_Mutation_p.M1I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	1					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						TGTCTTTGGTCATGATGTTGC	0.343		NaN											0	0	0	0.000602	0	5	165				
PDS5A	23244	broad.mit.edu	37	4	39905710	39905710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:39905710C>T	uc003guv.3	-	12	1875	c.1335G>A	c.(1333-1335)TGG>TGA	p.W445*	PDS5A_uc010ifo.2_Nonsense_Mutation_p.W405*|PDS5A_uc003guw.3_Nonsense_Mutation_p.W445*	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	445					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TGTCCTTTATCCAGCTGACTT	0.383		NaN											0	0	0	0.009096	0	3	34				
PPBP	5473	broad.mit.edu	37	4	74853297	74853297	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:74853297G>A	uc003hhj.2	-	2	301	c.221C>T	c.(220-222)CCC>CTC	p.P74L		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	74					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GATGTTTTTGGGATGAATTCC	0.393		NaN											0	0	0	0.00632	0	27	72				
CNOT6L	246175	broad.mit.edu	37	4	78663304	78663304	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:78663304T>C	uc011ccd.1	-	8	994	c.863A>G	c.(862-864)AAA>AGA	p.K288R	CNOT6L_uc003hks.2_Missense_Mutation_p.K288R|CNOT6L_uc003hkt.1_Missense_Mutation_p.K131R|CNOT6L_uc011cce.1_3'UTR	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	288					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						CTTTTCTGTTTTGAAGAATAT	0.338		NaN											0	0	0	0.001984	0	6	31				
BMP3	651	broad.mit.edu	37	4	81967324	81967324	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:81967324C>T	uc003hmg.3	+	2	1069	c.749C>T	c.(748-750)TCT>TTT	p.S250F		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	250					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						GCCGCCATTTCTGAGCCAGAA	0.473		NaN											0	0	0	0.004007	0	15	114				
COPS4	51138	broad.mit.edu	37	4	83996452	83996452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:83996452C>T	uc003hoa.2	+	10	1229	c.1090C>T	c.(1090-1092)CGA>TGA	p.R364*	COPS4_uc003hob.2_Missense_Mutation_p.T413M|COPS4_uc010ijw.2_Nonsense_Mutation_p.R396*|COPS4_uc010ijx.2_Silent_p.H335H	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	364					cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				CCCCTTAGCACGAGAAGCCCT	0.363		NaN											0	0	0	0.000602	0	5	54				
ZNF330	27309	broad.mit.edu	37	4	142147922	142147922	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:142147922G>A	uc003iiq.3	+	5	433	c.213G>A	c.(211-213)GGG>GGA	p.G71G	ZNF330_uc011chl.1_Silent_p.G11G	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	71	C4-type 2 (Potential).					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					CTTCATTAGGGAAAACAAAGT	0.393		NaN											0	0	0	0.003954	0	24	109				
PLRG1	5356	broad.mit.edu	37	4	155458505	155458505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155458505G>C	uc003iny.2	-	14	1481	c.1418C>G	c.(1417-1419)TCT>TGT	p.S473C	PLRG1_uc003inz.2_Missense_Mutation_p.S464C	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	473	WD 7.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				TCGACTTTCAGACTGATCAAA	0.408		NaN											0	0	0	0.003163	0	15	41				
FGA	2243	broad.mit.edu	37	4	155507881	155507881	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155507881G>C	uc003iod.1	-	5	758	c.700C>G	c.(700-702)CCC>GCC	p.P234A	FGA_uc003ioe.1_Missense_Mutation_p.P234A|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	234	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAATTTCCGGGAACCAAGTCT	0.458		NaN											0	0	0	0.004672	0	3	137				
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:174254744G>A	uc011ckc.1	-	1	177	c.57C>T	c.(55-57)TTC>TTT	p.F19F	HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	19	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582		NaN											0	0	0	0.001984	0	7	70				
ODZ3	55714	broad.mit.edu	37	4	183675804	183675804	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:183675804G>C	uc003ivd.1	+	21	4321	c.4284G>C	c.(4282-4284)CGG>CGC	p.R1428R	ODZ3_uc003ive.1_Silent_p.R841R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1428	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAATTAACCGGATAAGGCAGG	0.478		NaN											0	0	0	0.004672	0	3	36				
SNX25	83891	broad.mit.edu	37	4	186278863	186278863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:186278863C>T	uc003ixh.2	+	16	2320	c.2131C>T	c.(2131-2133)CAG>TAG	p.Q711*	SNX25_uc010ish.2_Nonsense_Mutation_p.Q427*|SNX25_uc003ixi.2_Nonsense_Mutation_p.Q215*	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	711					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGCCCTCGTTCAGGTCACTTT	0.368		NaN											0	0	0	0.006214	0	10	104				
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:13865914C>G	uc003jfd.2	-	27	4260	c.4218G>C	c.(4216-4218)AAG>AAC	p.K1406N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTAGTTGCTTCTTTATTTCAA	0.343		NaN							Kartagener_syndrome				0	0	0	0.008871	0	19	113				
NIPBL	25836	broad.mit.edu	37	5	37045560	37045560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37045560T>A	uc003jkl.3	+	37	6858	c.6359T>A	c.(6358-6360)TTA>TAA	p.L2120*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.L2120*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2120					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTTCAAAATTAAAAAGTCAA	0.303		NaN											0	0	0	0.01441	0	51	151				
WDR70	55100	broad.mit.edu	37	5	37703084	37703084	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37703084C>G	uc003jkv.2	+	13	1369	c.1311C>G	c.(1309-1311)CTC>CTG	p.L437L		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	437	WD 6.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATAAGCTCATAGTCACTG	0.413		NaN											0	0	0	0.00308	0	8	130				
LIFR	3977	broad.mit.edu	37	5	38484884	38484884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:38484884G>A	uc010ive.1	-	18	2916	c.2584C>T	c.(2584-2586)CGA>TGA	p.R862*	LIFR_uc003jli.2_Nonsense_Mutation_p.R862*	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	862	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TACCATTCTCGTTTCCGATAG	0.363		NaN	T	PLAG1	salivary adenoma								0	0	0	0.009096	0	4	29				
ZNF131	7690	broad.mit.edu	37	5	43161885	43161885	+	Silent	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:43161885A>G	uc011cpw.1	+	5	942	c.906A>G	c.(904-906)GCA>GCG	p.A302A	ZNF131_uc010ivl.1_Silent_p.A268A|ZNF131_uc003jnj.3_Silent_p.A23A|ZNF131_uc003jnk.2_Silent_p.A268A|ZNF131_uc003jnn.3_Silent_p.A23A|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	302	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GAGAGAGCGCATGGAAACAGC	0.373		NaN											0	0	0	0.010504	0	21	65				
FST	10468	broad.mit.edu	37	5	52778823	52778823	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:52778823G>C	uc003jpd.2	+	2	226	c.199G>C	c.(199-201)GAG>CAG	p.E67Q	FST_uc003jpc.2_Missense_Mutation_p.E67Q	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	67	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTCGTGGACCGAGGAGGACGT	0.587		NaN									OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	28				
DHX29	54505	broad.mit.edu	37	5	54579357	54579357	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579357C>T	uc003jpx.2	-	11	1759	c.1639G>A	c.(1639-1641)GAA>AAA	p.E547K	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	547							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACAGGTTCCAAATCTTCC	0.398		NaN											0	0	0	0.003163	0	16	224				
DHX29	54505	broad.mit.edu	37	5	54579455	54579455	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579455C>G	uc003jpx.2	-	11	1661	c.1541G>C	c.(1540-1542)AGA>ACA	p.R514T	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	514	Potential.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAGTTTTCTCTCTTATTTTC	0.378		NaN											0	0	0	0.010504	0	21	165				
TAF9	6880	broad.mit.edu	37	5	68661350	68661350	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:68661350C>T	uc003jwc.1	-	2	547	c.215G>A	c.(214-216)CGA>CAA	p.R72Q	TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R72Q|TAF9_uc003jwe.1_Missense_Mutation_p.R72Q|TAF9_uc003jwf.1_Missense_Mutation_p.R72Q	NM_003187	NP_003178	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding	72					histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding				0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GATTGCCAATCGCACATCATC	0.418		NaN											0	0	0	0.00245	0	14	144				
POLK	51426	broad.mit.edu	37	5	74869692	74869692	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74869692G>C	uc003kdw.2	+	5	634	c.538G>C	c.(538-540)GAG>CAG	p.E180Q	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E180Q|POLK_uc003keb.2_Missense_Mutation_p.E180Q|POLK_uc010izq.2_Missense_Mutation_p.E180Q|POLK_uc003kec.2_Missense_Mutation_p.E90Q|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E90Q|POLK_uc003kee.2_Missense_Mutation_p.E180Q|POLK_uc003kef.2_Missense_Mutation_p.E90Q	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	180	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGTGAGTAAAGAGGTAAGTTA	0.458		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.009096	0	4	69				
POC5	134359	broad.mit.edu	37	5	74970317	74970317	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74970317G>C	uc003keh.3	-	12	1868	c.1671C>G	c.(1669-1671)ACC>ACG	p.T557T	POC5_uc010izu.2_Silent_p.T381T|POC5_uc003keg.3_Silent_p.T532T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	557					cell cycle	centriole				lung(1)	1						GAGCTGATCTGGTTCCAAGTG	0.433		NaN											0	0	0	0.00874	0	43	185				
FBN2	2201	broad.mit.edu	37	5	127609548	127609548	+	Silent	SNP	G	G	A	rs28763922	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:127609548G>A	uc003kuu.2	-	61	8263	c.7824C>T	c.(7822-7824)ACC>ACT	p.T2608T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2608	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTCAGTCCGGTGGCATCAA	0.393		NaN											0	0	0	0.000602	0	4	66				
FNIP1	96459	broad.mit.edu	37	5	131007915	131007915	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:131007915G>A	uc003kvs.1	-	14	2364	c.2222C>T	c.(2221-2223)TCA>TTA	p.S741L	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.S713L|FNIP1_uc010jdm.1_Missense_Mutation_p.S696L	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	741					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAAGAAAATGAAGCAGGCAC	0.453		NaN											0	0	0	0.008871	0	21	199				
SLC25A2	83884	broad.mit.edu	37	5	140683215	140683215	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:140683215G>A	uc003ljf.2	-	1	398	c.218C>T	c.(217-219)GCC>GTC	p.A73V		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	73	Helical; Name=2; (Potential).|Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGCGACGTAGGCCATAAGTGC	0.572		NaN											0	0	0	0.000602	0	5	78				
GRXCR2	643226	broad.mit.edu	37	5	145239353	145239353	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145239353C>T	uc003lns.1	-	3	690	c.690G>A	c.(688-690)CTG>CTA	p.L230L		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	230											0						CAGGGCACCTCAGGGCCCGAT	0.547		NaN											0	0	0	0.001984	0	7	66				
GPR151	134391	broad.mit.edu	37	5	145894520	145894520	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145894520A>T	uc003lod.1	-	1	1157	c.1157T>A	c.(1156-1158)GTA>GAA	p.V386E		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	386	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCTCTACGTCAGGAAG	0.502		NaN											0	0	0	0.00278	0	23	49				
G3BP1	10146	broad.mit.edu	37	5	151169904	151169904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:151169904C>T	uc003lun.2	+	3	287	c.116C>T	c.(115-117)TCT>TTT	p.S39F	G3BP1_uc010jhy.1_Missense_Mutation_p.S39F|G3BP1_uc003lum.2_Missense_Mutation_p.S39F|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	39	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAGAACTCTTCTTATGTCCAT	0.368		NaN											0	0	0	0.000602	0	5	50				
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:1313343C>T	uc003mtl.3	+	1	669	c.404C>T	c.(403-405)TCG>TTG	p.S135L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.592		NaN											0	0	0	0.006122	0	8	9		Valid		
NUP153	9972	broad.mit.edu	37	6	17669713	17669713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:17669713G>T	uc003ncd.1	-	6	1117	c.917C>A	c.(916-918)TCA>TAA	p.S306*	NUP153_uc011dje.1_Nonsense_Mutation_p.S306*|NUP153_uc010jpl.1_Nonsense_Mutation_p.S306*	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	306					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCGAGCTGTTGAACTGGTCAC	0.373		NaN											1	0	0.00024832	0.009096	0.000258595	4	115				
ALDH5A1	7915	broad.mit.edu	37	6	24503595	24503595	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:24503595C>T	uc003neg.2	+	3	571	c.543C>T	c.(541-543)ACC>ACT	p.T181T	ALDH5A1_uc003nef.2_Silent_p.T181T	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	181					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTATCCACACCCCGGCAAAGG	0.572		NaN											0	0	0	0.010729	0	3	35				
BTN2A1	11120	broad.mit.edu	37	6	26468591	26468591	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:26468591G>A	uc003nib.1	+	8	1610	c.1398G>A	c.(1396-1398)ATG>ATA	p.M466I	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.M314I|BTN2A1_uc011dko.1_Missense_Mutation_p.M405I|BTN2A1_uc010jqk.1_Missense_Mutation_p.M226I	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	466	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TCTACAACATGAGGGACAGAT	0.552		NaN											0	0	0	0.001168	0	5	163				
OR2B6	26212	broad.mit.edu	37	6	27925387	27925387	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:27925387T>A	uc011dkx.1	+	1	369	c.369T>A	c.(367-369)TTT>TTA	p.F123L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTGATAGGTTTGTAGCTATTT	0.473		NaN											0	0	0	0.00623	0	40	155				
SYNGAP1	8831	broad.mit.edu	37	6	33391253	33391253	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:33391253G>C	uc011dri.1	+	2	263	c.68_splice	c.e2-1	p.D23_splice	SYNGAP1_uc003oeo.1_Splice_Site_p.D8_splice|SYNGAP1_uc010juy.2_Splice_Site_p.D8_splice	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CTGTCCTCCAGATGTACGGGG	0.522		NaN											0	0	0	0.01441	0	63	185				
C6orf142	90523	broad.mit.edu	37	6	54025594	54025594	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:54025594C>G	uc003pcg.3	+	7	1004	c.891C>G	c.(889-891)GTC>GTG	p.V297V	C6orf142_uc003pcf.2_Silent_p.V821V|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.V832V	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	297						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTGACACAGTCAAAGTATGTA	0.179		NaN											0	0	0	0.004482	0	7	85				
COL19A1	1310	broad.mit.edu	37	6	70639365	70639365	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:70639365C>G	uc003pfc.1	+	6	556	c.439C>G	c.(439-441)CAA>GAA	p.Q147E	COL19A1_uc010kam.1_Missense_Mutation_p.Q43E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	147	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						ATTTATGTTTCAAGCCACAGA	0.338		NaN											0	0	0	0.001984	0	4	66				
MYO6	4646	broad.mit.edu	37	6	76576333	76576333	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:76576333G>A	uc003pih.1	+	17	2044	c.1765G>A	c.(1765-1767)GAA>AAA	p.E589K	MYO6_uc003pig.1_Missense_Mutation_p.E589K|MYO6_uc003pii.1_Missense_Mutation_p.E589K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	589	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGTGTGCTATGAAACAGTGAG	0.299		NaN											0	0	0	0.00308	0	8	62				
GPR63	81491	broad.mit.edu	37	6	97247160	97247160	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:97247160C>T	uc010kcl.2	-	3	926	c.448G>A	c.(448-450)GGG>AGG	p.G150R	GPR63_uc003pou.2_Missense_Mutation_p.G150R	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	150	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCAT	0.418		NaN											0	0	0	0.014323	0	22	56				
FOXO3	2309	broad.mit.edu	37	6	108985341	108985341	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:108985341C>T	uc003psk.2	+	3	1621	c.1305C>T	c.(1303-1305)TTC>TTT	p.F435F	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.F435F|FOXO3_uc011ean.1_Silent_p.F215F|FOXO3_uc010kdj.1_Silent_p.F215F	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	435					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.F435F(1)		central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GCACGGTGTTCGGACCTTCAT	0.572		NaN											0	0	0	0.000602	0	4	114				
C6orf204	387119	broad.mit.edu	37	6	118791768	118791768	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:118791768G>C	uc003pxz.1	-	11	2542	c.1954C>G	c.(1954-1956)CAA>GAA	p.Q652E		NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	652	Potential.					centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		ATCATCTTTTGAGTGGTCAGT	0.308		NaN											0	0	0	0.001984	0	5	118				
VNN2	8875	broad.mit.edu	37	6	133070857	133070857	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:133070857G>A	uc003qdt.2	-	6	1359	c.1348C>T	c.(1348-1350)CAT>TAT	p.H450Y	VNN2_uc003qds.2_Missense_Mutation_p.H159Y|VNN2_uc010kgb.2_Missense_Mutation_p.H229Y|VNN2_uc003qdv.2_Missense_Mutation_p.H397Y	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	450					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GGTGACAGATGAATTTCGGTA	0.378		NaN											0	0	0	0.009096	0	4	60				
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Missense_Mutation	SNP	G	G	C	rs147719127		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136589449G>C	uc003qgx.1	-	10	2501	c.2248C>G	c.(2248-2250)CGA>GGA	p.R750G	BCLAF1_uc011edb.1_Missense_Mutation_p.R78G|BCLAF1_uc003qgw.1_Missense_Mutation_p.R577G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R748G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R748G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	750	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338		NaN											0	0	0	0.000602	0	5	111				
BCLAF1	9774	broad.mit.edu	37	6	136599168	136599168	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136599168T>C	uc003qgx.1	-	4	1104	c.851A>G	c.(850-852)TAC>TGC	p.Y284C	BCLAF1_uc003qgw.1_Missense_Mutation_p.Y284C|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y282C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y282C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	284					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAGGACTGTATCGACTAGA	0.453		NaN											0	0	0	0.004482	0	9	86				
VTA1	51534	broad.mit.edu	37	6	142487389	142487389	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:142487389G>C	uc003qiw.2	+	2	152	c.137G>C	c.(136-138)GGA>GCA	p.G46A	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Vps20-associated 1 homolog	46	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATGCAGACTGGAATGAAGATC	0.289		NaN											0	0	0	0.004672	0	3	100				
LATS1	9113	broad.mit.edu	37	6	150005065	150005065	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005065G>A	uc003qmu.1	-	4	1708	c.1160C>T	c.(1159-1161)TCT>TTT	p.S387F	LATS1_uc010kif.1_Missense_Mutation_p.S282F|LATS1_uc003qmv.1_Missense_Mutation_p.S387F|LATS1_uc003qmw.2_Missense_Mutation_p.S387F|LATS1_uc010kig.1_Missense_Mutation_p.S282F	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	387					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGTAAAGCAGAAGGGCTTTG	0.453		NaN											0	0	0	0.007413	0	19	129				
LATS1	9113	broad.mit.edu	37	6	150005361	150005361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005361G>C	uc003qmu.1	-	4	1412	c.864C>G	c.(862-864)ATC>ATG	p.I288M	LATS1_uc010kif.1_Missense_Mutation_p.I183M|LATS1_uc003qmv.1_Missense_Mutation_p.I288M|LATS1_uc003qmw.2_Missense_Mutation_p.I288M|LATS1_uc010kig.1_Missense_Mutation_p.I183M	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	288					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGACAGGAGAGATTCGGGAGA	0.517		NaN											0	0	0	0.004007	0	17	159				
DNAH11	8701	broad.mit.edu	37	7	21775305	21775305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:21775305G>A	uc003svc.2	+	47	7540	c.7509G>A	c.(7507-7509)ATG>ATA	p.M2503I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2503	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GATATTTCATGGAGTTGTTGC	0.343		NaN							Kartagener_syndrome				0	0	0	0.000602	0	5	36				
STK31	56164	broad.mit.edu	37	7	23810677	23810677	+	Silent	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:23810677G>T	uc003sws.3	+	14	1834	c.1767G>T	c.(1765-1767)CTG>CTT	p.L589L	STK31_uc003swt.3_Silent_p.L566L|STK31_uc011jze.1_Silent_p.L589L|STK31_uc010kuq.2_Silent_p.L566L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	589							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						GTCAAGTACTGCAAAAGATTC	0.338		NaN											1	0	2.3441e-25	0.01441	2.55874e-25	62	140				
HOXA1	3198	broad.mit.edu	37	7	27135406	27135406	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:27135406G>A	uc003sye.2	-	1	220	c.126C>T	c.(124-126)GTC>GTT	p.V42V	HOXA1_uc003syd.2_Silent_p.V42V|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	42						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						TGTTGGCGCTGACCGCGCACG	0.522		NaN									OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.010729	0	10	104				
ZNF735	730291	broad.mit.edu	37	7	63667599	63667599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:63667599C>T	uc011kdn.1	+	1	19	c.19C>T	c.(19-21)CCC>TCC	p.P7S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGACCGGGACCCCCTGGAAG	0.562		NaN											0	0	0	0.001984	0	4	50				
PPP1R9A	55607	broad.mit.edu	37	7	94915637	94915637	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:94915637G>T	uc003unp.2	+	13	3159	c.2877G>T	c.(2875-2877)GAG>GAT	p.E959D	PPP1R9A_uc010lfj.2_Missense_Mutation_p.E1243D|PPP1R9A_uc011kif.1_Missense_Mutation_p.E1165D|PPP1R9A_uc003unq.2_Missense_Mutation_p.E1183D|PPP1R9A_uc011kig.1_Missense_Mutation_p.E959D|PPP1R9A_uc003unr.2_Missense_Mutation_p.E256D	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	959	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCAGATGAGGTAATTCCAT	0.458		NaN								HNSCC(28;0.073)			1	0	0.00024832	0.009096	0.000258595	4	85				
SRRT	51593	broad.mit.edu	37	7	100482607	100482607	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100482607G>A	uc003uwy.2	+	10	1373	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K	SRRT_uc010lhl.1_Missense_Mutation_p.E369K|SRRT_uc003uxa.2_Missense_Mutation_p.E369K|SRRT_uc003uwz.2_Missense_Mutation_p.E369K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	369	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						CAGCGTGTCAGAGTCTGAGTC	0.577		NaN											0	0	0	0.001168	0	6	274				
TRIM56	81844	broad.mit.edu	37	7	100731650	100731650	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100731650G>C	uc003uxq.2	+	3	1288	c.1057G>C	c.(1057-1059)GAG>CAG	p.E353Q	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	353					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCACAGCTGGAGCTCCATCC	0.662		NaN											0	0	0	0.009096	0	4	8				
SND1	27044	broad.mit.edu	37	7	127341354	127341354	+	Nonsense_Mutation	SNP	C	C	G	rs34667910		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:127341354C>G	uc003vmi.2	+	5	792	c.566C>G	c.(565-567)TCA>TGA	p.S189*		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	189					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TTTGTGGACTCACACCACCAG	0.483		NaN											0	0	0	0.001168	0	6	73				
TSGA14	95681	broad.mit.edu	37	7	130067815	130067815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:130067815G>C	uc003vpz.2	-	2	125	c.78C>G	c.(76-78)ATC>ATG	p.I26M	TSGA14_uc010lmf.2_Translation_Start_Site|TSGA14_uc003vqa.2_Missense_Mutation_p.I26M|TSGA14_uc011kpg.1_Missense_Mutation_p.I26M|TSGA14_uc003vqb.1_RNA	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	26					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					GTCTTGATTTGATATGCTGGT	0.313		NaN											0	0	0	0.012213	0	28	56				
TRPV5	56302	broad.mit.edu	37	7	142605898	142605898	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:142605898C>T	uc003wby.1	-	15	2236	c.1972G>A	c.(1972-1974)GAT>AAT	p.D658N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	658	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					TCCTGGTCATCCTCCTTGTCT	0.532		NaN											0	0	0	0.001168	0	6	66				
TAS2R60	338398	broad.mit.edu	37	7	143141483	143141483	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:143141483C>T	uc011ktg.1	+	1	938	c.938C>T	c.(937-939)TCA>TTA	p.S313L	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	313	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					CGTCGTTCCTCAAGGTGTGGG	0.502		NaN											0	0	0	0.010729	0	10	118				
OR6B1	135946	broad.mit.edu	37	7	143701967	143701967	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:143701967G>A	uc003wdt.1	+	1	878	c.878G>A	c.(877-879)CGA>CAA	p.R293Q		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					CTAAGAAACCGAGAGGTCAAG	0.433		NaN											0	0	0	0.010729	0	12	73				
CNTNAP2	26047	broad.mit.edu	37	7	146536942	146536942	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:146536942C>G	uc003weu.1	+	3	864	c.348C>G	c.(346-348)CTC>CTG	p.L116L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	116	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCGGATGCTCTACAGCGACA	0.468		NaN								HNSCC(39;0.1)			0	0	0	0.000602	0	5	38				
SSPO	23145	broad.mit.edu	37	7	149522395	149522395	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:149522395C>T	uc010lpk.2	+	101	14022	c.14022C>T	c.(14020-14022)TTC>TTT	p.F4674F	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4674	TIL 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACACTGTATTCACCCTGGACT	0.637		NaN											0	0	0	0.008871	0	21	68				
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439547C>G	uc003whr.1	+	3	672	c.320C>G	c.(319-321)TCT>TGT	p.S107C	GIMAP5_uc010lpu.2_5'UTR	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	107	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582		NaN											0	0	0	0.008291	0	11	88				
GIMAP5	55340	broad.mit.edu	37	7	150439620	150439620	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439620C>G	uc003whr.1	+	3	745	c.393C>G	c.(391-393)ATC>ATG	p.I131M	GIMAP5_uc010lpu.2_Translation_Start_Site	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	131	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGGCCATCAGGAAGGTGA	0.592		NaN											0	0	0	0.004482	0	9	120				
AGAP3	116988	broad.mit.edu	37	7	150840866	150840866	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150840866C>G	uc003wjg.1	+	18	2575	c.2572C>G	c.(2572-2574)CCA>GCA	p.P858A	AGAP3_uc003wje.1_Missense_Mutation_p.P527A|AGAP3_uc003wjj.1_Missense_Mutation_p.P357A|AGAP3_uc003wjk.1_Missense_Mutation_p.P276A	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	822	ANK 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						GGGCCTGACTCCACTGGCATA	0.617		NaN											0	0	0	0.001168	0	6	86				
C8orf42	157695	broad.mit.edu	37	8	442608	442608	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442608C>T	uc003wpd.2	-	3	923	c.349G>A	c.(349-351)GAA>AAA	p.E117K	C8orf42_uc011kwg.1_Missense_Mutation_p.E117K	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	117											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		GATATGTCTTCAAGAGCAAGT	0.493		NaN											0	0	0	0.001984	0	7	63				
C8orf42	157695	broad.mit.edu	37	8	442629	442629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442629C>A	uc003wpd.2	-	3	902	c.328G>T	c.(328-330)GAG>TAG	p.E110*	C8orf42_uc011kwg.1_Nonsense_Mutation_p.E110*	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	110											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)		TTTGGAGGCTCCCAACCTTCA	0.468		NaN											1	0	1.12685e-05	0.004482	1.18712e-05	9	73				
SGK223	157285	broad.mit.edu	37	8	8175847	8175847	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:8175847C>A	uc003wsh.3	-	5	4038	c.4038G>T	c.(4036-4038)ACG>ACT	p.T1346T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1346							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						AGTTGTGCAGCGTGCCGCACA	0.677		NaN											1	0	1.23904e-05	0.000602	1.30229e-05	5	97				
ESCO2	157570	broad.mit.edu	37	8	27645505	27645505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:27645505G>C	uc003xgg.2	+	6	1200	c.1117G>C	c.(1117-1119)GAC>CAC	p.D373H	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	373					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAACAAAAGACCAGCTCAT	0.289		NaN							SC_Phocomelia_syndrome				0	0	0	0.013537	0	13	107				
PURG	29942	broad.mit.edu	37	8	30889612	30889612	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:30889612C>T	uc003xin.2	-	1	706	c.687G>A	c.(685-687)ATG>ATA	p.M229I	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.M229I	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	229	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GAAACTCAATCATTCCTTGTG	0.488		NaN											0	0	0	0.003163	0	15	135				
OPRK1	4986	broad.mit.edu	37	8	54147422	54147422	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:54147422G>A	uc003xrh.1	-	2	882	c.507C>T	c.(505-507)TTC>TTT	p.F169F	OPRK1_uc003xri.1_Silent_p.F169F|OPRK1_uc010lyc.1_Silent_p.F80F	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	169	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGGGTGTGCGGAAGTCCAAAG	0.512		NaN											0	0	0	0.000602	0	5	89				
HNF4G	3174	broad.mit.edu	37	8	76471126	76471126	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:76471126A>G	uc003yaq.2	+	9	1106	c.836A>G	c.(835-837)TAT>TGT	p.Y279C	HNF4G_uc003yar.2_Missense_Mutation_p.Y316C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	279					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GATCGGCAGTATGACTCCCGG	0.453		NaN											0	0	0	0.003271	0	35	89				
PKHD1L1	93035	broad.mit.edu	37	8	110535087	110535087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:110535087C>T	uc003yne.2	+	75	12402	c.12298C>T	c.(12298-12300)CAG>TAG	p.Q4100*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4100	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q4100Q(1)		ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCATTTCCTCAGCAGCCTTC	0.458		NaN								HNSCC(38;0.096)			0	0	0	0.001984	0	6	13				
CSMD3	114788	broad.mit.edu	37	8	114448989	114448989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:114448989A>T	uc003ynu.2	-	1	254	c.95T>A	c.(94-96)TTC>TAC	p.F32Y	CSMD3_uc011lhx.1_Missense_Mutation_p.F32Y|CSMD3_uc010mcx.1_Missense_Mutation_p.F32Y|CSMD3_uc003ynx.3_Missense_Mutation_p.F32Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	32	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATCAGGATGAAGTCTAGGCG	0.468		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.001168	0	5	178				
WDR67	93594	broad.mit.edu	37	8	124095030	124095030	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124095030G>C	uc003ypp.1	+	3	403	c.313G>C	c.(313-315)GAT>CAT	p.D105H	WDR67_uc011lig.1_Missense_Mutation_p.D105H|WDR67_uc011lih.1_Intron|WDR67_uc003ypq.1_Intron|WDR67_uc003ypo.1_Missense_Mutation_p.D105H	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	105						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGCATTAGCTGATTATTCTAT	0.348		NaN											0	0	0	0.009096	0	4	99				
C8orf76	84933	broad.mit.edu	37	8	124250182	124250182	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124250182C>G	uc003yqc.1	-	3	245	c.214_splice	c.e3-1	p.K72_splice	C8orf76_uc003yqd.2_Splice_Site_p.K40_splice	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933								binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGTGCTTTCTGGAAATTAT	0.378		NaN											0	0	0	0.004482	0	7	96				
LRRC6	23639	broad.mit.edu	37	8	133623581	133623581	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:133623581C>T	uc003ytk.2	-	9	1077	c.1003G>A	c.(1003-1005)GAT>AAT	p.D335N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	335	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTTGCACATCAACATCGATT	0.308		NaN											0	0	0	0.000602	0	4	60				
KHDRBS3	10656	broad.mit.edu	37	8	136594141	136594141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:136594141C>T	uc003yuv.2	+	6	1026	c.632C>T	c.(631-633)GCC>GTC	p.A211V	KHDRBS3_uc003yuw.2_Missense_Mutation_p.A211V|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	211					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGAGTTACAGCCCGGCCAGTT	0.502		NaN											0	0	0	0.010504	0	18	95				
MGC70857	414919	broad.mit.edu	37	8	145753430	145753430	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:145753430C>G	uc003zdp.1	-	2	341	c.183G>C	c.(181-183)AAG>AAC	p.K61N	LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_RNA	NM_001001795	NP_001001795	Q6P1X6	CH082_HUMAN	hypothetical protein LOC414919	61											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGATGAAATTCTTCATTTTGG	0.582		NaN											0	0	0	0.00245	0	12	61				
IL33	90865	broad.mit.edu	37	9	6252898	6252898	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:6252898C>A	uc003zjt.2	+	5	433	c.376C>A	c.(376-378)CTA>ATA	p.L126I	IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.L126I	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	126					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCTTGCTTCTCTAAGCACATA	0.318		NaN											1	0	1.36161e-19	0.004289	1.48272e-19	38	86				
MPDZ	8777	broad.mit.edu	37	9	13113048	13113048	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:13113048A>G	uc010mhy.2	-	40	5527	c.5476T>C	c.(5476-5478)TCT>CCT	p.S1826P	MPDZ_uc003zkx.3_Missense_Mutation_p.S91P|MPDZ_uc003zky.3_Missense_Mutation_p.S389P|MPDZ_uc010mib.2_Missense_Mutation_p.S560P|MPDZ_uc010mhx.2_Missense_Mutation_p.S677P|MPDZ_uc011lmm.1_Missense_Mutation_p.S714P|MPDZ_uc003zkz.3_Missense_Mutation_p.S548P|MPDZ_uc010mhz.2_Missense_Mutation_p.S1822P|MPDZ_uc011lmn.1_Missense_Mutation_p.S1793P|MPDZ_uc003zlb.3_Missense_Mutation_p.S1826P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1855					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTATTTCAGATGCCACTGTA	0.323		NaN											0	0	0	0.004672	0	2	11				
OGN	4969	broad.mit.edu	37	9	95155527	95155527	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:95155527C>T	uc004asa.2	-	4	504	c.269_splice	c.e4-1	p.E90_splice	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Splice_Site_p.E90_splice|OGN_uc011ltx.1_Splice_Site_p.E108_splice	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein							extracellular space|proteinaceous extracellular matrix	growth factor activity				0						GTGGGCATTTCTAAATTGGGA	0.333		NaN											0	0	0	0.001984	0	6	43				
PHF2	5253	broad.mit.edu	37	9	96415473	96415473	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:96415473C>T	uc004aub.2	+	6	762	c.615C>T	c.(613-615)TTC>TTT	p.F205F	PHF2_uc011lug.1_Silent_p.F88F	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	205	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTCCAGCTTCGTGGAGCCAC	0.502		NaN											0	0	0	0.001168	0	6	29				
ZNF510	22869	broad.mit.edu	37	9	99522220	99522220	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:99522220C>G	uc004awn.1	-	6	1081	c.892G>C	c.(892-894)GAC>CAC	p.D298H	ZNF510_uc004awo.1_Missense_Mutation_p.D298H	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CTCCTGTGGTCAAAGAGAGTT	0.358		NaN											0	0	0	0.00308	0	8	112				
UGCG	7357	broad.mit.edu	37	9	114691868	114691868	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:114691868G>A	uc004bft.2	+	6	937	c.647G>A	c.(646-648)AGA>AAA	p.R216K		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	216	Lumenal (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGTTTAATGAGAAAAGATGTG	0.393		NaN											0	0	0	0.01441	0	65	79				
GPR21	2844	broad.mit.edu	37	9	125797112	125797112	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:125797112C>T	uc011lzk.1	+	1	267	c.267C>T	c.(265-267)CTC>CTT	p.L89L	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	89	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CTTTATCACTCCTCCATCACC	0.463		NaN											0	0	0	0.003271	0	36	44				
TSC1	7248	broad.mit.edu	37	9	135786887	135786887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:135786887G>A	uc004cca.2	-	10	1216	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q328*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q277*|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Nonsense_Mutation_p.Q207*|TSC1_uc004ccc.1_Nonsense_Mutation_p.Q328*|TSC1_uc004ccd.2_Nonsense_Mutation_p.Q328*|TSC1_uc004cce.1_Nonsense_Mutation_p.Q328*	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	328					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCAGAGTCTGAGGTAGCTGC	0.502		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.004289	0	36	72		Valid		
COL5A1	1289	broad.mit.edu	37	9	137676852	137676852	+	Silent	SNP	C	C	T	rs144775947		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:137676852C>T	uc004cfe.2	+	30	2884	c.2502C>T	c.(2500-2502)CCC>CCT	p.P834P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	834	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGCCCACCCGGTCCCAGGG	0.617		NaN											0	0	0	0.000602	0	3	45				
OBP2A	29991	broad.mit.edu	37	9	138439763	138439763	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:138439763C>T	uc004cgb.2	+	4	366	c.324C>T	c.(322-324)GAC>GAT	p.D108D	OBP2A_uc004cgc.2_Silent_p.D108D|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Nonsense_Mutation_p.R64*	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	108					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612		NaN											0	0	0	0.004672	0	3	21				
PMPCA	23203	broad.mit.edu	37	9	139313052	139313052	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:139313052G>A	uc004chl.2	+	9	1041	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R	PMPCA_uc010nbl.2_Missense_Mutation_p.G246R|PMPCA_uc011mdz.1_Missense_Mutation_p.G215R|PMPCA_uc004chm.1_Missense_Mutation_p.G96R|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	346					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GATGATGGGCGGAGGTGGCTC	0.602		NaN											0	0	0	0.000602	0	3	45				
SYTL5	94122	broad.mit.edu	37	X	37955435	37955435	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:37955435C>T	uc004ddu.2	+	10	1544	c.1010C>T	c.(1009-1011)TCA>TTA	p.S337L	SYTL5_uc004ddv.2_Missense_Mutation_p.S337L|SYTL5_uc004ddx.2_Missense_Mutation_p.S337L	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	337					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						ACAGAAGACTCAGAGGATACT	0.418		NaN											0	0	0	0.010729	0	11	57				
TFE3	7030	broad.mit.edu	37	X	48895743	48895743	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:48895743G>A	uc004dmb.3	-	4	997	c.759C>T	c.(757-759)ATC>ATT	p.I253I	TFE3_uc004dmc.3_Silent_p.I148I|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	253					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						AGCTGGACCCGATGGTGAGCA	0.602		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								0	0	0	0.004672	0	3	24				
CACNA1F	778	broad.mit.edu	37	X	49070628	49070628	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:49070628G>C	uc004dnb.2	-	30	3794	c.3732C>G	c.(3730-3732)TTC>TTG	p.F1244L	CACNA1F_uc010nip.2_Missense_Mutation_p.F1233L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1244	IV.|Helical; Name=S2 of repeat IV; (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CCTTGGGCTTGAAGGCGATGA	0.547		NaN											0	0	0	0.001168	0	6	55				
DOCK11	139818	broad.mit.edu	37	X	117788597	117788597	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:117788597G>C	uc004eqp.2	+	43	4791	c.4728G>C	c.(4726-4728)TTG>TTC	p.L1576F	DOCK11_uc004eqq.2_Missense_Mutation_p.L1355F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1576	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TCAAAGACTTGACCAAGAGAA	0.423		NaN											0	0	0	0.004656	0	25	50				
ELF4	2000	broad.mit.edu	37	X	129206253	129206253	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:129206253C>T	uc004evd.3	-	5	865	c.480G>A	c.(478-480)GAG>GAA	p.E160E	ELF4_uc004eve.3_Silent_p.E160E	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	160	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGAGGCCTTCTCCTCCAGAG	0.567		NaN	T	ERG	AML								0	0	0	0.013537	0	10	88				
ARHGAP36	158763	broad.mit.edu	37	X	130220601	130220601	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:130220601G>T	uc004evz.2	+	11	1793	c.1448G>T	c.(1447-1449)CGG>CTG	p.R483L	ARHGAP36_uc004ewa.2_Missense_Mutation_p.R471L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R452L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R347L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						GCTGAAGCCCGGGCTGCTGTC	0.512		NaN											1	0	1.76056e-25	0.011902	1.92641e-25	40	26				
ZNF75D	7626	broad.mit.edu	37	X	134421722	134421722	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:134421722C>T	uc004eyp.2	-	7	3535	c.880G>A	c.(880-882)GAA>AAA	p.E294K	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.E73K|ZNF75D_uc004eyo.2_Missense_Mutation_p.E199K	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	294	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTTTGTATTTCTGATGTAGAA	0.373		NaN											0	0	0	0.003163	0	14	105				
SLC2A5	6518	broad.mit.edu	37	1	9101954	9101954	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:9101954G>A	uc001apo.2	-	5	753	c.461C>T	c.(460-462)GCC>GTC	p.A154V	SLC2A5_uc010nzy.1_Missense_Mutation_p.A95V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A39V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A110V|SLC2A5_uc010oab.1_Missense_Mutation_p.A154V|SLC2A5_uc010oac.1_Silent_p.G112G|SLC2A5_uc001app.3_Missense_Mutation_p.A154V	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	154	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTTAGGGGCCAGCTCCCC	0.537		NaN											0	0	0	0.001168	0	5	16				
TMEM54	113452	broad.mit.edu	37	1	33363895	33363895	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:33363895C>G	uc001bwi.1	-	2	156	c.42G>C	c.(40-42)CGG>CGC	p.R14R	TMEM54_uc001bwj.1_Silent_p.R14R|TMEM54_uc001bwk.1_Silent_p.R14R	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	14						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGCACCTTCCGGAAGTCGC	0.632		NaN											0	0	0	0.001984	0	7	45				
RLF	6018	broad.mit.edu	37	1	40697236	40697236	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40697236C>G	uc001cfc.3	+	7	1026	c.995C>G	c.(994-996)TCT>TGT	p.S332C	RLF_uc001cfd.3_Missense_Mutation_p.S23C	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	332					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATTGACCCTTCTTTAGATACT	0.358		NaN											0	0	0	0.010504	0	19	151				
DEM1	64789	broad.mit.edu	37	1	40981078	40981078	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40981078G>T	uc001cfp.2	+	3	1067	c.862G>T	c.(862-864)GAT>TAT	p.D288Y	DEM1_uc001cfq.2_Missense_Mutation_p.D288Y|DEM1_uc001cfr.2_Missense_Mutation_p.D288Y|DEM1_uc001cfs.2_Missense_Mutation_p.D288Y	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	288							DNA binding|exonuclease activity				0						CCCAGTTATTGATATCTTGAA	0.493		NaN											1	0	1.01871e-10	0.008871	1.11764e-10	16	362				
TIE1	7075	broad.mit.edu	37	1	43782984	43782984	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:43782984G>C	uc001ciu.2	+	15	2603	c.2524G>C	c.(2524-2526)GAG>CAG	p.E842Q	TIE1_uc010oke.1_Missense_Mutation_p.E797Q|TIE1_uc009vwq.2_Missense_Mutation_p.E798Q|TIE1_uc010okg.1_Missense_Mutation_p.E487Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	842	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCACCTTTGAGGACCTCAT	0.587		NaN											0	0	0	0.00499	0	14	162				
SLC6A9	6536	broad.mit.edu	37	1	44474198	44474198	+	Silent	SNP	C	C	T	rs144161106		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:44474198C>T	uc001cll.2	-	5	828	c.636G>A	c.(634-636)ACG>ACA	p.T212T	SLC6A9_uc009vxe.2_Silent_p.T68T|SLC6A9_uc010okm.1_Silent_p.T139T|SLC6A9_uc001clm.2_Silent_p.T158T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.T143T|SLC6A9_uc001cln.2_Silent_p.T139T|SLC6A9_uc010oko.1_Silent_p.T28T|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	212	Extracellular (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCAGCACGTGCGTCATGGACG	0.572		NaN											0	0	0	0.009096	0	4	114				
C1orf163	65260	broad.mit.edu	37	1	53153747	53153747	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:53153747A>G	uc001cui.1	-	3	381	c.341T>C	c.(340-342)GTT>GCT	p.V114A		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	114	Sel1-like 3.						binding				0						CAGGAGGCCAACGTTGTGACA	0.542		NaN											0	0	0	0.000602	0	5	98				
YIPF1	54432	broad.mit.edu	37	1	54343992	54343992	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:54343992G>T	uc001cvu.2	-	6	697	c.360C>A	c.(358-360)CTC>CTA	p.L120L	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	120	Helical; (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						ACATACCATAGAGATCTGGAT	0.423		NaN											1	0	1.024e-07	0.000602	1.10034e-07	5	172				
PPAP2B	8613	broad.mit.edu	37	1	56990007	56990007	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990007C>T	uc001cyj.1	-	4	1018	c.517G>A	c.(517-519)GAA>AAA	p.E173K		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	173	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0						ATGTAGCCTTCAGAGCAGTTG	0.537		NaN											0	0	0	0.002522	0	44	132				
PPAP2B	8613	broad.mit.edu	37	1	56990203	56990203	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990203C>T	uc001cyj.1	-	4	822	c.321G>A	c.(319-321)CGG>CGA	p.R107R		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	107	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0						GGTAATAGATCCGGTAGAATT	0.483		NaN											0	0	0	0.002299	0	20	78				
DAB1	1600	broad.mit.edu	37	1	57480619	57480619	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480619C>A	uc001cys.1	-	14	2055	c.1381G>T	c.(1381-1383)GAC>TAC	p.D461Y	DAB1_uc001cyt.1_Missense_Mutation_p.D459Y|DAB1_uc001cyq.1_Missense_Mutation_p.D459Y|DAB1_uc001cyr.1_Missense_Mutation_p.D375Y|DAB1_uc009vzw.1_Missense_Mutation_p.D443Y|DAB1_uc009vzx.1_Missense_Mutation_p.D461Y	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	494					cell differentiation|nervous system development					skin(2)|ovary(1)	3						ATGTCAAAGTCATCACAGTCG	0.522		NaN											1	0	2.27111e-07	0.001368	2.41558e-07	12	69				
DAB1	1600	broad.mit.edu	37	1	57480687	57480687	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480687C>G	uc001cys.1	-	14	1987	c.1313G>C	c.(1312-1314)TGT>TCT	p.C438S	DAB1_uc001cyt.1_Missense_Mutation_p.C436S|DAB1_uc001cyq.1_Missense_Mutation_p.C436S|DAB1_uc001cyr.1_Missense_Mutation_p.C352S|DAB1_uc009vzw.1_Missense_Mutation_p.C420S|DAB1_uc009vzx.1_Missense_Mutation_p.C438S	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	471					cell differentiation|nervous system development					skin(2)|ovary(1)	3						CTCTGAGGTACAGGTGAGGGA	0.547		NaN											0	0	0	0.004482	0	9	56				
DAB1	1600	broad.mit.edu	37	1	57480743	57480743	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480743C>A	uc001cys.1	-	14	1931	c.1257G>T	c.(1255-1257)CAG>CAT	p.Q419H	DAB1_uc001cyt.1_Missense_Mutation_p.Q417H|DAB1_uc001cyq.1_Missense_Mutation_p.Q417H|DAB1_uc001cyr.1_Missense_Mutation_p.Q333H|DAB1_uc009vzw.1_Missense_Mutation_p.Q401H|DAB1_uc009vzx.1_Missense_Mutation_p.Q419H	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	452					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GCTGGGCCATCTGGAAATCCT	0.597		NaN											1	0	1.08611e-07	0.000978	1.16408e-07	12	56				
DAB1	1600	broad.mit.edu	37	1	57480856	57480856	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480856C>T	uc001cys.1	-	14	1818	c.1144G>A	c.(1144-1146)GGT>AGT	p.G382S	DAB1_uc001cyt.1_Missense_Mutation_p.G380S|DAB1_uc001cyq.1_Missense_Mutation_p.G380S|DAB1_uc001cyr.1_Missense_Mutation_p.G296S|DAB1_uc009vzw.1_Missense_Mutation_p.G364S|DAB1_uc009vzx.1_Missense_Mutation_p.G382S	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	415					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GTGAGGGGACCTTGGAACATG	0.602		NaN											0	0	0	0.001855	0	13	55				
DAB1	1600	broad.mit.edu	37	1	57481004	57481004	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57481004C>A	uc001cys.1	-	14	1670	c.996G>T	c.(994-996)GTG>GTT	p.V332V	DAB1_uc001cyt.1_Silent_p.V330V|DAB1_uc001cyq.1_Silent_p.V330V|DAB1_uc001cyr.1_Silent_p.V246V|DAB1_uc009vzw.1_Silent_p.V314V|DAB1_uc009vzx.1_Silent_p.V332V	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	365					cell differentiation|nervous system development					skin(2)|ovary(1)	3						CCCCCGGCATCACCTGAGCGA	0.667		NaN											1	0	0.00307968	0.00308	0.00314745	8	46				
LRRC7	57554	broad.mit.edu	37	1	70541913	70541913	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:70541913G>A	uc001dep.2	+	22	4300	c.4270G>A	c.(4270-4272)GGA>AGA	p.G1424R	LRRC7_uc009wbg.2_Missense_Mutation_p.G708R|LRRC7_uc001deq.2_Missense_Mutation_p.G618R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1424						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGCCACCCGGGGACCTCAGCC	0.468		NaN											0	0	0	0.001168	0	5	89				
ASB17	127247	broad.mit.edu	37	1	76397741	76397741	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:76397741T>C	uc001dhe.1	-	1	376	c.236A>G	c.(235-237)TAC>TGC	p.Y79C	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	79					intracellular signal transduction					ovary(1)	1						TTCAAAACGGTATCCTGATTT	0.378		NaN											0	0	0	0.003163	0	15	63				
LPHN2	23266	broad.mit.edu	37	1	82432119	82432119	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:82432119G>A	uc001dit.3	+	12	2305	c.2124G>A	c.(2122-2124)CGG>CGA	p.R708R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.R708R|LPHN2_uc001div.2_Silent_p.R708R|LPHN2_uc009wcd.2_Silent_p.R708R|LPHN2_uc001diw.2_Silent_p.R292R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	721	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCATTTACCGGAGCCTGGGAC	0.373		NaN											0	0	0	0.00278	0	23	84				
CCDC18	343099	broad.mit.edu	37	1	93677790	93677790	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:93677790A>G	uc001dpq.2	+	11	1989	c.1821A>G	c.(1819-1821)GAA>GAG	p.E607E	CCDC18_uc009wdl.1_Silent_p.E168E	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	489										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TAGAAACAGAACCTGTAAAGC	0.289		NaN											0	0	0	0.006999	0	34	179				
COL11A1	1301	broad.mit.edu	37	1	103544384	103544384	+	Silent	SNP	T	T	C	rs150668398		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:103544384T>C	uc001dul.2	-	3	636	c.318A>G	c.(316-318)AAA>AAG	p.K106K	COL11A1_uc001dum.2_Silent_p.K106K|COL11A1_uc001dun.2_Silent_p.K106K|COL11A1_uc009weh.2_Silent_p.K106K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	106	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTTTGGTTTTACTGTAA	0.333		NaN											0	0	0	0.001368	0	13	39				
KCND3	3752	broad.mit.edu	37	1	112524482	112524482	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:112524482G>C	uc001ebu.1	-	2	1347	c.867C>G	c.(865-867)CTC>CTG	p.L289L	KCND3_uc001ebv.1_Silent_p.L289L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	289	Helical; Voltage-sensor; Name=Segment S4; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGAAGACCCGGAGCGTGACGA	0.602		NaN											0	0	0	0.00308	0	6	54				
TTF2	8458	broad.mit.edu	37	1	117640030	117640030	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:117640030C>A	uc001egy.2	+	21	3264	c.3244C>A	c.(3244-3246)CAC>AAC	p.H1082N		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	1082	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGGAGGAAATCACCTCTTTCT	0.463		NaN											1	0	5.12918e-33	0.00361	5.73261e-33	53	249				
PDE4DIP	9659	broad.mit.edu	37	1	144922578	144922578	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:144922578G>C	uc001elw.3	-	7	1120	c.829C>G	c.(829-831)CAA>GAA	p.Q277E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q343E|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q440E|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q64E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	277	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTGCTTTTGAGACGACTCC	0.373		NaN	T	PDGFRB	MPD								0	0	0	0.00361	0	69	762				
SV2A	9900	broad.mit.edu	37	1	149879685	149879685	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:149879685T>C	uc001etg.2	-	9	1944	c.1453A>G	c.(1453-1455)AAA>GAA	p.K485E	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.K485E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	485	Extracellular (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAACACTTTGGTGCGGGAT	0.527		NaN											0	0	0	0.00361	0	50	168				
TARS2	80222	broad.mit.edu	37	1	150477198	150477198	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150477198C>T	uc001euq.2	+	15	1816	c.1809C>T	c.(1807-1809)TGC>TGT	p.C603C	TARS2_uc001eur.2_Silent_p.C521C|TARS2_uc009wlt.2_Silent_p.C229C|TARS2_uc009wls.2_Silent_p.C473C	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAAT	0.567		NaN											0	0	0	0.007413	0	19	203				
CTSS	1520	broad.mit.edu	37	1	150727584	150727584	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150727584G>A	uc001evn.2	-	4	425	c.292C>T	c.(292-294)CCC>TCC	p.P98S	CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.P98S	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	98					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGCTGGGAACTCTCAGG	0.333		NaN											0	0	0	0.00308	0	8	302				
FAM63A	55793	broad.mit.edu	37	1	150973046	150973046	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150973046G>T	uc001ewf.2	-	6	2306	c.622C>A	c.(622-624)CTG>ATG	p.L208M	FAM63A_uc001ewc.2_Missense_Mutation_p.L66M|FAM63A_uc010pcm.1_Missense_Mutation_p.L113M|FAM63A_uc001ewd.2_Missense_Mutation_p.L66M|FAM63A_uc001ewe.2_Missense_Mutation_p.L42M|FAM63A_uc010pcn.1_Missense_Mutation_p.L256M|FAM63A_uc001ewg.2_Missense_Mutation_p.L208M	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	208							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGACATCCAGACCTGTGGCC	0.493		NaN											1	0	8.60227e-14	0.004007	9.51257e-14	14	130				
SCNM1	79005	broad.mit.edu	37	1	151139670	151139670	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151139670G>C	uc001ewz.2	+	4	397	c.285G>C	c.(283-285)TTG>TTC	p.L95F	LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.L95F|SCNM1_uc009wmn.2_RNA	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	95					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAATGAATTGAGAAGGGAAG	0.483		NaN											0	0	0	0.004482	0	7	153				
SELENBP1	8991	broad.mit.edu	37	1	151338296	151338296	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151338296C>T	uc001exx.2	-	8	917	c.870G>A	c.(868-870)GTG>GTA	p.V290V	SELENBP1_uc010pcy.1_Silent_p.V332V|SELENBP1_uc001exy.2_Silent_p.V187V|SELENBP1_uc001exz.2_Silent_p.V187V|SELENBP1_uc010pcz.1_Silent_p.V228V|SELENBP1_uc009wms.2_Silent_p.V126V|SELENBP1_uc009wmt.2_Silent_p.V187V|SELENBP1_uc001eya.2_Silent_p.V226V|SELENBP1_uc009wmu.2_Silent_p.V187V	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	290					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCTGGATCACCTTCTCCA	0.552		NaN											0	0	0	0.004007	0	16	219				
POGZ	23126	broad.mit.edu	37	1	151378787	151378787	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151378787G>A	uc001eyd.1	-	19	3030	c.2724C>T	c.(2722-2724)CTC>CTT	p.L908L	POGZ_uc001eye.1_Silent_p.L855L|POGZ_uc010pdb.1_Silent_p.L899L|POGZ_uc001eyf.1_Silent_p.L864L|POGZ_uc010pdc.1_Silent_p.L846L|POGZ_uc009wmv.1_Silent_p.L813L|POGZ_uc010pdd.1_Silent_p.L399L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	908	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTGATGGGAGTGCTGGGG	0.597		NaN											0	0	0	0.003163	0	15	61				
CGN	57530	broad.mit.edu	37	1	151506505	151506505	+	Silent	SNP	C	C	A	rs142498835		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151506505C>A	uc009wmw.2	+	15	2941	c.2797C>A	c.(2797-2799)CGG>AGG	p.R933R	CGN_uc010pde.1_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	927	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACACAGCCCGGCTGGACAA	0.637		NaN											1	0	0.00909568	0.009096	0.00918356	4	50				
RORC	6097	broad.mit.edu	37	1	151801935	151801935	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151801935C>T	uc001ezh.2	-	2	149	c.41_splice	c.e2-1	p.E14_splice	RORC_uc010pdo.1_Splice_Site_p.E68_splice|RORC_uc010pdp.1_Splice_Site_p.E14_splice	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGCAGCTCTGTAAAGACA	0.532		NaN											0	0	0	0.00278	0	24	99				
FLG	2312	broad.mit.edu	37	1	152281252	152281252	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152281252C>T	uc001ezu.1	-	3	6146	c.6110G>A	c.(6109-6111)CGA>CAA	p.R2037Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2037	Ser-rich.|Filaggrin 12.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTACCCTCGGTGTCCACT	0.557		NaN							Ichthyosis				0	0	0	0.010504	0	20	853				
FLG	2312	broad.mit.edu	37	1	152287037	152287037	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152287037T>C	uc001ezu.1	-	3	361	c.325A>G	c.(325-327)AAA>GAA	p.K109E	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	109					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTTATCATGATGA	0.358		NaN							Ichthyosis				0	0	0	0.00245	0	15	253				
LCE1F	353137	broad.mit.edu	37	1	152749146	152749146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152749146C>G	uc010pdv.1	+	1	299	c.299C>G	c.(298-300)TCA>TGA	p.S100*		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	100					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGCCCTCAGCGGGCTCC	0.642		NaN											0	0	0	0.00308	0	6	47				
INTS3	65123	broad.mit.edu	37	1	153724860	153724860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:153724860C>T	uc009wom.2	+	9	1056	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	INTS3_uc001fct.2_Nonsense_Mutation_p.Q279*|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Nonsense_Mutation_p.Q73*|INTS3_uc010peb.1_Nonsense_Mutation_p.Q73*|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	280					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATAATCCTCAGGCCTTGAG	0.433		NaN											0	0	0	0.006122	0	17	470				
PBXIP1	57326	broad.mit.edu	37	1	154924271	154924271	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:154924271C>T	uc001ffr.2	-	3	237	c.178G>A	c.(178-180)GGG>AGG	p.G60R	PBXIP1_uc001ffs.2_Missense_Mutation_p.G31R|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	60					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCAGTACCTTCTCCATCC	0.522		NaN											0	0	0	0.000978	0	12	457				
DAP3	7818	broad.mit.edu	37	1	155695275	155695275	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:155695275C>G	uc001flq.2	+	5	542	c.373C>G	c.(373-375)CTT>GTT	p.L125V	DAP3_uc001flr.2_Missense_Mutation_p.L125V|DAP3_uc001fls.2_Missense_Mutation_p.L125V|DAP3_uc010pgl.1_Missense_Mutation_p.L84V|DAP3_uc001flt.2_Missense_Mutation_p.L91V|DAP3_uc001flu.2_Missense_Mutation_p.L125V|DAP3_uc010pgm.1_Missense_Mutation_p.L91V	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	125					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TATACGATATCTTCTGTGTAT	0.418		NaN											0	0	0	0.009535	0	25	141				
HAPLN2	60484	broad.mit.edu	37	1	156593922	156593922	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156593922G>A	uc001fpn.1	+	4	816	c.409G>A	c.(409-411)GAG>AAG	p.E137K	HAPLN2_uc010phq.1_Missense_Mutation_p.E137K	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	137	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCGAGGACGAGAGCGTGGC	0.697		NaN											0	0	0	0.009096	0	4	26				
NES	10763	broad.mit.edu	37	1	156642464	156642464	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156642464C>G	uc001fpq.2	-	4	1649	c.1516G>C	c.(1516-1518)GAG>CAG	p.E506Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	506	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCTTTCTCTACCAACCCC	0.502		NaN											0	0	0	0.003271	0	31	267				
ALDH9A1	223	broad.mit.edu	37	1	165649774	165649774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:165649774G>A	uc001gdh.1	-	5	844	c.739C>T	c.(739-741)CCC>TCC	p.P247S	ALDH9A1_uc010pky.1_Missense_Mutation_p.P153S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.P237S|ALDH9A1_uc010pla.1_Missense_Mutation_p.P153S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	223					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	GCCACATCGGGATGCTGACAC	0.532		NaN											0	0	0	0.00623	0	39	186				
TBX19	9095	broad.mit.edu	37	1	168278089	168278089	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:168278089C>G	uc001gfl.2	+	7	1077	c.1026C>G	c.(1024-1026)ACC>ACG	p.T342T	TBX19_uc001gfj.3_Silent_p.T210T|TBX19_uc001gfm.2_Silent_p.T45T	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	342					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TACCCCACACCAACGGACCAA	0.507		NaN											0	0	0	0.001368	0	11	156				
SCYL3	57147	broad.mit.edu	37	1	169847899	169847899	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:169847899T>A	uc001ggs.2	-	3	425	c.227A>T	c.(226-228)GAT>GTT	p.D76V	SCYL3_uc001ggt.2_Missense_Mutation_p.D76V|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	76	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGAATGCCATCCGCTTCCAC	0.443		NaN											0	0	0	0.00361	0	54	193				
PRG4	10216	broad.mit.edu	37	1	186273374	186273374	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:186273374G>C	uc001gru.3	+	5	505	c.454G>C	c.(454-456)GAG>CAG	p.E152Q	PRG4_uc001grt.3_Missense_Mutation_p.E111Q|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	152					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TATAGAATCAGAGGAAATAAC	0.398		NaN											0	0	0	0.001168	0	6	73				
CFHR3	10878	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:196749062C>T	uc001gtl.2	+	3	476	c.389C>T	c.(388-390)ACG>ATG	p.T130M	CFHR3_uc001gtk.2_Missense_Mutation_p.T130M|CFHR3_uc010poy.1_Missense_Mutation_p.T130M|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	130	Sushi 2.					extracellular space					0						GTTACATGTACGGAGAAAGGC	0.473		NaN											0	0	0	0.009096	0	4	74				
RNPEP	6051	broad.mit.edu	37	1	201972454	201972454	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201972454G>A	uc001gxd.2	+	9	1545	c.1516G>A	c.(1516-1518)GAA>AAA	p.E506K	RNPEP_uc001gxe.2_Missense_Mutation_p.E207K|RNPEP_uc001gxf.2_Missense_Mutation_p.E375K	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	506					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCCTGCTGAAGAGCTAGC	0.582		NaN											0	0	0	0.00245	0	14	16				
ELF3	1999	broad.mit.edu	37	1	201981201	201981201	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201981201C>G	uc001gxg.3	+	2	3472	c.280C>G	c.(280-282)CGA>GGA	p.R94G	ELF3_uc001gxi.3_Missense_Mutation_p.R94G|ELF3_uc001gxh.3_Missense_Mutation_p.R94G	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	94	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TGACTTCTCACGATGTGACAT	0.582		NaN											0	0	0	0.00308	0	7	83		Valid		
USH2A	7399	broad.mit.edu	37	1	215812566	215812566	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:215812566C>G	uc001hku.1	-	69	15370	c.14983G>C	c.(14983-14985)GTC>CTC	p.V4995L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4995	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCAGATGACCTGGAAAAAG	0.403		NaN								HNSCC(13;0.011)			0	0	0	0.001168	0	6	144				
DISP1	84976	broad.mit.edu	37	1	223177617	223177617	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223177617G>C	uc001hnu.1	+	8	3025	c.2878G>C	c.(2878-2880)GAA>CAA	p.E960Q		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	960					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTCGGCCCCTGAAGGCCTCAG	0.507		NaN											0	0	0	0.004672	0	3	47				
TLR5	7100	broad.mit.edu	37	1	223285979	223285979	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223285979G>C	uc001hnv.1	-	4	841	c.395C>G	c.(394-396)TCT>TGT	p.S132C	TLR5_uc001hnw.1_Missense_Mutation_p.S132C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	132	Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		TACAGCATCAGAGAGACCACA	0.383		NaN											0	0	0	0.00308	0	7	91				
SLC35F3	148641	broad.mit.edu	37	1	234367379	234367379	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:234367379T>C	uc001hwa.1	+	2	521	c.293T>C	c.(292-294)TTC>TCC	p.F98S	SLC35F3_uc001hvy.1_Missense_Mutation_p.F167S	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	98	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GACGCGCCCTTCACCCTCACG	0.587		NaN											0	0	0	0.007413	0	17	134				
CNST	163882	broad.mit.edu	37	1	246754982	246754982	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246754982G>C	uc001ibp.2	+	2	496	c.118G>C	c.(118-120)GAA>CAA	p.E40Q	CNST_uc001ibo.3_Missense_Mutation_p.E40Q	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	40					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AGATGAAAATGAAAATCAGCT	0.478		NaN											0	0	0	0.004482	0	7	77				
CNST	163882	broad.mit.edu	37	1	246829073	246829073	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246829073G>A	uc001ibp.2	+	11	2422	c.2044G>A	c.(2044-2046)GGA>AGA	p.G682R		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	682	Helical; (Potential).				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						CAGTGTTGGAGGAACTGCATT	0.443		NaN											0	0	0	0.000602	0	5	100				
OR11L1	391189	broad.mit.edu	37	1	248004359	248004359	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248004359C>A	uc001idn.1	-	1	840	c.840G>T	c.(838-840)GTG>GTT	p.V280V		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGTGTGACCACAGTGTAGA	0.443		NaN											1	0	1.9806e-07	0.002299	2.11737e-07	23	65				
USP6NL	9712	broad.mit.edu	37	10	11505382	11505382	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:11505382G>A	uc001ikt.3	-	15	1866	c.1545C>T	c.(1543-1545)CTC>CTT	p.L515L	USP6NL_uc001iks.1_Silent_p.L532L	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	515						intracellular	Rab GTPase activator activity				0						CGGTAACTGCGAGCGCGGGGT	0.587		NaN											0	0	0	0.00333	0	23	145				
CUBN	8029	broad.mit.edu	37	10	16911847	16911847	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:16911847C>G	uc001ioo.2	-	59	9294	c.9242G>C	c.(9241-9243)AGT>ACT	p.S3081T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.S437T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3081	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAAAATCACTGAACCTGTG	0.413		NaN											0	0	0	0.001368	0	12	64				
CSTF2T	23283	broad.mit.edu	37	10	53458275	53458275	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:53458275G>C	uc001jjp.2	-	1	1081	c.1035C>G	c.(1033-1035)GTC>GTG	p.V345V	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	345	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTCTCCAGTGACTGAAAGCA	0.582		NaN											0	0	0	0.008871	0	20	73				
MYST4	23522	broad.mit.edu	37	10	76781861	76781861	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:76781861G>C	uc001jwn.1	+	16	3737	c.3244G>C	c.(3244-3246)GAA>CAA	p.E1082Q	MYST4_uc001jwm.1_Missense_Mutation_p.E790Q|MYST4_uc001jwo.1_Missense_Mutation_p.E790Q|MYST4_uc001jwp.1_Missense_Mutation_p.E899Q	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1082	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ggaggaggaagaagaggagga	0.274		NaN	T	CREBBP	AML						OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	67				
CYP26A1	1592	broad.mit.edu	37	10	94836385	94836385	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:94836385G>C	uc001kil.2	+	6	1129	c.1084G>C	c.(1084-1086)GAG>CAG	p.E362Q	CYP26A1_uc001kik.1_Missense_Mutation_p.E293Q|CYP26A1_uc001kim.1_Missense_Mutation_p.E260Q	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	362					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				TGTTATTAAGGAGACCCTTCG	0.388		NaN											0	0	0	0.00278	0	22	77				
TCTN3	26123	broad.mit.edu	37	10	97446269	97446269	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97446269C>G	uc001klb.3	-	7	1115	c.871G>C	c.(871-873)GAT>CAT	p.D291H	TCTN3_uc001kla.3_Missense_Mutation_p.D140H|TCTN3_uc010qoi.1_Missense_Mutation_p.D212H|TCTN3_uc001kld.2_Missense_Mutation_p.D309H|TCTN3_uc009xux.1_Missense_Mutation_p.D140H|TCTN3_uc009xuy.1_RNA	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	291	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TTCTGTGGATCAGTCATGCTT	0.398		NaN											0	0	0	0.00245	0	14	155				
CC2D2B	387707	broad.mit.edu	37	10	97775978	97775978	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97775978C>T	uc001kll.2	+	6	628	c.429C>T	c.(427-429)ATC>ATT	p.I143I	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.I143I	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	143										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		GTTTAGCTATCGGAAATAAGG	0.418		NaN											0	0	0	0.004007	0	15	51				
SEC31B	25956	broad.mit.edu	37	10	102265919	102265919	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102265919C>G	uc001krc.1	-	9	1024	c.922G>C	c.(922-924)GAT>CAT	p.D308H	SEC31B_uc010qpo.1_Missense_Mutation_p.D307H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.D311H|SEC31B_uc009xwn.1_Missense_Mutation_p.D308H|SEC31B_uc009xwo.1_Missense_Mutation_p.D308H|SEC31B_uc010qpq.1_Missense_Mutation_p.D151H	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	308	WD 6.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACTGCACATCAAAGCACCAG	0.517		NaN											0	0	0	0.000978	0	12	98				
FAM178A	55719	broad.mit.edu	37	10	102676898	102676898	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102676898G>C	uc001krt.3	+	3	1298	c.756G>C	c.(754-756)TTG>TTC	p.L252F	FAM178A_uc001krr.1_Missense_Mutation_p.L252F|FAM178A_uc001krs.2_Missense_Mutation_p.L252F|FAM178A_uc001kru.1_Missense_Mutation_p.L188F	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	252											0						TAAAGAGGTTGAGAAAGGAGC	0.438		NaN											0	0	0	0.001855	0	12	76				
GBF1	8729	broad.mit.edu	37	10	104139673	104139673	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:104139673G>C	uc001kux.1	+	36	5077	c.4837G>C	c.(4837-4839)GAG>CAG	p.E1613Q	GBF1_uc001kuy.1_Missense_Mutation_p.E1609Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1610Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1613					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGGTGGGATGGAGGAGACCCG	0.547		NaN											0	0	0	0.001984	0	6	32				
SH3PXD2A	9644	broad.mit.edu	37	10	105495508	105495508	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:105495508G>T	uc001kxj.1	-	4	428	c.288C>A	c.(286-288)CCC>CCA	p.P96P	SH3PXD2A_uc010qqu.1_Silent_p.P26P	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	96	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATTCATCGATGGGCTTCAGTC	0.582		NaN											1	0	4.67007e-22	0.00874	5.20557e-22	25	112				
GRK5	2869	broad.mit.edu	37	10	121156215	121156215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121156215T>A	uc001led.2	+	4	503	c.270T>A	c.(268-270)TAT>TAA	p.Y90*	GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	90	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGGCAGAATATGAAGTTACTC	0.333		NaN											0	0	0	0.000602	0	4	87				
INPP5F	22876	broad.mit.edu	37	10	121541205	121541205	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121541205A>G	uc001leo.2	+	3	403	c.237A>G	c.(235-237)GGA>GGG	p.G79G	INPP5F_uc001len.3_Silent_p.G79G	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	79							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AACTCCCAGGAGACCATGAGG	0.423		NaN											0	0	0	0.006122	0	19	68				
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:721618G>A	uc001lqt.2	+	10	1069	c.822G>A	c.(820-822)CAG>CAA	p.Q274Q	EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	274						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.557		NaN											0	0	0	0.001984	0	6	5				
OR10A5	144124	broad.mit.edu	37	11	6867721	6867721	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:6867721G>C	uc001met.1	+	1	808	c.808G>C	c.(808-810)GAG>CAG	p.E270Q		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAATTCTCCTGAGAGCAAGAA	0.423		NaN											0	0	0	0.00361	0	59	171				
LDHAL6A	160287	broad.mit.edu	37	11	18487256	18487256	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:18487256G>A	uc001mop.1	+	4	578	c.317G>A	c.(316-318)CGC>CAC	p.R106H	LDHAL6A_uc001moq.2_Missense_Mutation_p.R106H	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	106		Substrate (By similarity).			glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	GGAGAAACACGCCTTGATTTA	0.388		NaN											0	0	0	0.006214	0	10	124				
MYBPC3	4607	broad.mit.edu	37	11	47364473	47364473	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:47364473G>A	uc001nfa.3	-	15	1420	c.1365C>T	c.(1363-1365)CTC>CTT	p.L455L	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	454	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GGCGCGTGATGAGCACAGGGG	0.632		NaN											0	0	0	0.004672	0	3	10				
OR5AK2	390181	broad.mit.edu	37	11	56756546	56756546	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:56756546C>G	uc010rjp.1	+	1	158	c.158C>G	c.(157-159)TCC>TGC	p.S53C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						AACACAGATTCCAGATTTCAA	0.378		NaN											0	0	0	0.00361	0	79	57				
TNKS1BP1	85456	broad.mit.edu	37	11	57080263	57080263	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57080263G>A	uc001njr.2	-	4	2211	c.1899C>T	c.(1897-1899)CTC>CTT	p.L633L	TNKS1BP1_uc001njs.2_Silent_p.L633L|TNKS1BP1_uc009ymd.1_Silent_p.L84L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	633	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CATCAGCAAAGAGAACACAGG	0.662		NaN											0	0	0	0.003163	0	10	24				
OR9Q1	219956	broad.mit.edu	37	11	57946980	57946980	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57946980G>A	uc001nmj.2	+	3	380	c.64G>A	c.(64-66)GAA>AAA	p.E22K		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				TGAATATCCTGAATGGGCACT	0.453		NaN											0	0	0	0.008291	0	10	144				
OR9Q2	219957	broad.mit.edu	37	11	57958572	57958572	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57958572C>G	uc010rka.1	+	1	610	c.610C>G	c.(610-612)CTT>GTT	p.L204V		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TGTGTTTGCTCTTTTCGTCAT	0.473		NaN											0	0	0	0.004289	0	35	25				
NRXN2	9379	broad.mit.edu	37	11	64427940	64427940	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64427940C>T	uc001oar.2	-	12	2692	c.2253G>A	c.(2251-2253)ACG>ACA	p.T751T	NRXN2_uc001oas.2_Silent_p.T720T|NRXN2_uc001oaq.2_Silent_p.T418T	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCTCTGCCTCCGTGTGCATGG	0.602		NaN											0	0	0	0.000602	0	5	35				
RASGRP2	10235	broad.mit.edu	37	11	64502637	64502637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64502637G>A	uc009ypu.2	-	12	1586	c.1359C>T	c.(1357-1359)ATC>ATT	p.I453I	RASGRP2_uc001oat.2_Silent_p.I355I|RASGRP2_uc001oau.2_Silent_p.I308I|RASGRP2_uc009ypv.2_Silent_p.I453I|RASGRP2_uc009ypw.2_Silent_p.I453I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	453	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						TCCCACGGATGATCTGGAATT	0.557		NaN											0	0	0	0.003163	0	15	47				
KDM2A	22992	broad.mit.edu	37	11	67017821	67017821	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:67017821C>T	uc001ojw.2	+	17	3184	c.2320C>T	c.(2320-2322)CGG>TGG	p.R774W	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.R468W|KDM2A_uc010rpn.1_Missense_Mutation_p.R335W|KDM2A_uc001ojz.1_Missense_Mutation_p.R232W|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CACCATGGTACGGGAAAAGGA	0.617		NaN											0	0	0	0.001984	0	7	24				
UBTFL1	642623	broad.mit.edu	37	11	89819393	89819393	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:89819393A>T	uc010rub.1	+	1	276	c.276A>T	c.(274-276)AAA>AAT	p.K92N		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	upstream binding transcription factor, RNA	92					multicellular organismal development	cytoplasm|nucleus	DNA binding				0						AAAGCCAAAAATACAGGAACG	0.418		NaN											0	0	0	0.00333	0	23	18				
BCL9L	283149	broad.mit.edu	37	11	118771774	118771774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:118771774G>A	uc001pug.2	-	6	3643	c.2678C>T	c.(2677-2679)CCC>CTC	p.P893L	BCL9L_uc009zal.2_Missense_Mutation_p.P888L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	893	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGACGCAGGGGGCAGAGGCAT	0.602		NaN											0	0	0	0.00278	0	19	16				
KDM5A	5927	broad.mit.edu	37	12	420231	420231	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:420231C>G	uc001qif.1	-	21	3400	c.3037_splice	c.e21-1	p.S1013_splice	KDM5A_uc001qie.1_Splice_Site_p.S1013_splice|KDM5A_uc010sdn.1_Splice_Site_p.S972_splice	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1						chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TGCTGCCACTCTGAAAAACCA	0.418		NaN	T 	NUP98	AML								0	0	0	0.004672	0	3	36				
CD163	9332	broad.mit.edu	37	12	7639982	7639982	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:7639982C>T	uc001qsz.3	-	8	2151	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	CD163_uc001qta.3_Missense_Mutation_p.E675K|CD163_uc009zfw.2_Missense_Mutation_p.E708K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	675	SRCR 6.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCCACTTGCTCTGAAGGACAT	0.468		NaN											0	0	0	0.000602	0	5	46				
A2M	2	broad.mit.edu	37	12	9268390	9268390	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:9268390A>G	uc001qvk.1	-	1	169	c.56T>C	c.(55-57)CTG>CCG	p.L19P	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	19					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GTCTGTGGGCAGGAGGACCAA	0.468		NaN											0	0	0	0.001368	0	13	91				
GSG1	83445	broad.mit.edu	37	12	13256440	13256440	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:13256440C>G	uc001rbn.2	-	1	180	c.7G>C	c.(7-9)GAT>CAT	p.D3H	GSG1_uc001rbo.2_Missense_Mutation_p.D3H|GSG1_uc001rbp.2_Missense_Mutation_p.D3H|GSG1_uc001rbq.1_Missense_Mutation_p.D3H	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	Error:Variant_position_missing_in_Q2KHT4_after_alignment						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGAGAGGGATCGCTCATTCAC	0.428		NaN											0	0	0	0.005443	0	26	232				
GUCY2C	2984	broad.mit.edu	37	12	14827597	14827597	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:14827597G>T	uc001rcd.2	-	8	1183	c.1046C>A	c.(1045-1047)CCC>CAC	p.P349H	GUCY2C_uc009zhz.2_Missense_Mutation_p.P349H	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	349	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						AGCAAATTTGGGGGTGGTAAT	0.388		NaN											1	0	9.70103e-10	0.008291	1.056e-09	10	189				
EPS8	2059	broad.mit.edu	37	12	15803941	15803941	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:15803941C>T	uc009zif.2	-	14	1345	c.1251_splice	c.e14-1	p.R417_splice	EPS8_uc001rdb.2_Splice_Site_p.R417_splice|EPS8_uc009zig.2_Splice_Site_p.R157_splice|EPS8_uc010shv.1_Splice_Site_p.R157_splice	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway						cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCACTCTGCTCTGCAGGAGGG	0.448		NaN											0	0	0	0.001368	0	12	72				
SLCO1B3	28234	broad.mit.edu	37	12	21028199	21028199	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:21028199G>C	uc001rek.2	+	8	884	c.758G>C	c.(757-759)CGT>CCT	p.R253P	SLCO1B3_uc001rel.2_Missense_Mutation_p.R253P|SLCO1B3_uc010sil.1_Missense_Mutation_p.R253P|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.R78P	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	253	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					AAGGACTCTCGTTGGGTTGGA	0.378		NaN											0	0	0	0.009718	0	42	272				
ITPR2	3709	broad.mit.edu	37	12	26839539	26839539	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:26839539C>G	uc001rhg.2	-	11	1440	c.1023G>C	c.(1021-1023)AAG>AAC	p.K341N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	341	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GGCGTTTTTTCTTTGAAGTTG	0.413		NaN											0	0	0	0.001855	0	13	260				
BICD1	636	broad.mit.edu	37	12	32480490	32480490	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32480490G>A	uc001rku.2	+	5	1182	c.1101G>A	c.(1099-1101)CGG>CGA	p.R367R	BICD1_uc001rkv.2_Silent_p.R367R|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	367	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATGAGCGGGTGCACCGGC	0.612		NaN											0	0	0	0.00308	0	8	61				
CNTN1	1272	broad.mit.edu	37	12	41337797	41337797	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:41337797A>G	uc001rmm.1	+	14	1621	c.1508A>G	c.(1507-1509)GAT>GGT	p.D503G	CNTN1_uc009zjy.1_Missense_Mutation_p.D503G|CNTN1_uc001rmn.1_Missense_Mutation_p.D492G|CNTN1_uc001rmo.2_Missense_Mutation_p.D503G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	503					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.D503H(1)		lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAATATATAGATCCTACGCGA	0.338		NaN											0	0	0	0.001855	0	11	60				
PLEKHA9	51054	broad.mit.edu	37	12	45567619	45567619	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:45567619G>A	uc001rom.1	-	3	1067	c.530C>T	c.(529-531)TCA>TTA	p.S177L	PLEKHA9_uc009zke.2_Missense_Mutation_p.S177L	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		AGAGCAACTTGAGTCTGATCC	0.388		NaN											0	0	0	0.004482	0	7	182				
RND1	27289	broad.mit.edu	37	12	49258602	49258602	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:49258602C>T	uc001rsn.2	-	2	275	c.172G>A	c.(172-174)GAA>AAA	p.E58K		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6 precursor	58					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1						ACCCTCTGTTCCTCTGTCTCC	0.507		NaN											0	0	0	0.00632	0	25	176				
SLC4A8	9498	broad.mit.edu	37	12	51845973	51845973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:51845973G>T	uc001rys.1	+	4	521	c.343G>T	c.(343-345)GAG>TAG	p.E115*	SLC4A8_uc010sni.1_Nonsense_Mutation_p.E62*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.E62*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.E142*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.E115*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.E115*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.E62*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	115	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGCCTCATGAGCTGTTTAC	0.478		NaN											1	0	3.59834e-05	0.001168	3.74155e-05	6	222				
KRT6A	3853	broad.mit.edu	37	12	52882204	52882204	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:52882204C>T	uc001sam.2	-	7	1541	c.1332G>A	c.(1330-1332)CTG>CTA	p.L444L		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	444	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCCTTCAGCAGCCGGGCCA	0.612		NaN											0	0	0	0.002096	0	30	40				
TCTN1	79600	broad.mit.edu	37	12	111064234	111064234	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:111064234C>G	uc009zvs.2	+	3	517	c.409C>G	c.(409-411)CAA>GAA	p.Q137E	TCTN1_uc010syb.1_Missense_Mutation_p.Q137E|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.Q77E|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.Q137E|TCTN1_uc001trn.3_Missense_Mutation_p.Q137E|TCTN1_uc001tri.2_Missense_Mutation_p.Q81E|TCTN1_uc001trj.1_Missense_Mutation_p.Q81E|TCTN1_uc001trk.3_RNA	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	137					multicellular organismal development	extracellular region					0						AAACCCACCTCAAAGAGTATT	0.313		NaN											0	0	0	0.00308	0	8	41				
C12orf51	283450	broad.mit.edu	37	12	112666449	112666449	+	Splice_Site	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:112666449A>G	uc009zwc.2	-	35	5436	c.5418_splice	c.e35+1	p.E1806_splice	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AAATCACCTTACCTCTGATCT	0.403		NaN											0	0	0	0.004482	0	9	83				
TBX3	6926	broad.mit.edu	37	12	115115443	115115443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:115115443C>G	uc001tvt.1	-	5	1847	c.883G>C	c.(883-885)GAC>CAC	p.D295H	TBX3_uc001tvu.1_Missense_Mutation_p.D275H	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	295	T-box; second part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGGTTGTTGTCTATTTTTAAC	0.358		NaN											0	0	0	0.006122	0	16	125				
EP400	57634	broad.mit.edu	37	12	132475243	132475243	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:132475243G>T	uc001ujn.2	+	8	2648	c.2613G>T	c.(2611-2613)CAG>CAT	p.Q871H	EP400_uc001ujl.2_Missense_Mutation_p.Q870H|EP400_uc001ujm.2_Missense_Mutation_p.Q871H|EP400_uc001ujj.1_Missense_Mutation_p.Q834H|EP400_uc001ujk.2_Missense_Mutation_p.Q907H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	907					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TAAATTTACAGAAAGTTTCCA	0.393		NaN											1	0	1.49906e-05	0.00245	1.57044e-05	13	51				
SACS	26278	broad.mit.edu	37	13	23915126	23915126	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:23915126A>G	uc001uon.2	-	10	3478	c.2889T>C	c.(2887-2889)TCT>TCC	p.S963S	SACS_uc001uoo.2_Silent_p.S816S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	963					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACTGAAATAGAAAGTCGCA	0.363		NaN											0	0	0	0.00333	0	25	91				
KBTBD6	89890	broad.mit.edu	37	13	41705450	41705450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:41705450G>A	uc001uxu.1	-	1	1487	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.Q334*|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	400	Kelch 1.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTCCTGGGCTGAGCAGCTAGA	0.502		NaN											0	0	0	0.004289	0	34	156				
NEK5	341676	broad.mit.edu	37	13	52667254	52667254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:52667254G>C	uc001vge.2	-	13	1284	c.1144C>G	c.(1144-1146)CAA>GAA	p.Q382E	NEK5_uc001vgf.2_Missense_Mutation_p.Q382E	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	382							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTATTTTCTTGAGGAATAGGG	0.418		NaN											0	0	0	0.009718	0	44	126				
KLF5	688	broad.mit.edu	37	13	73636553	73636553	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:73636553G>A	uc001vje.2	+	2	1140	c.816G>A	c.(814-816)CAG>CAA	p.Q272Q	KLF5_uc001vjd.2_Silent_p.Q181Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	272					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTGTTCCGCAGACTGCAGTGA	0.502		NaN											0	0	0	0.008871	0	21	93				
MYCBP2	23077	broad.mit.edu	37	13	77825292	77825292	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:77825292G>C	uc001vkf.2	-	16	2352	c.2261C>G	c.(2260-2262)CCC>CGC	p.P754R	MYCBP2_uc010aev.2_Missense_Mutation_p.P158R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	754	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCCTCCGGGGACTCTGTC	0.443		NaN											0	0	0	0.00308	0	8	65				
SLITRK6	84189	broad.mit.edu	37	13	86369424	86369424	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:86369424A>C	uc001vll.1	-	2	1679	c.1220T>G	c.(1219-1221)TTT>TGT	p.F407C	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	407	Extracellular (Potential).|LRR 7.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGGTTCATAAACGATCCTTC	0.338		NaN											0	0	0	0.008361	0	30	101				
GPR180	160897	broad.mit.edu	37	13	95273419	95273419	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:95273419A>G	uc001vly.2	+	6	902	c.824A>G	c.(823-825)CAA>CGA	p.Q275R	GPR180_uc001vlz.2_Missense_Mutation_p.Q174R|GPR180_uc010afi.2_Missense_Mutation_p.Q36R	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	275						integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAGAAGTCTCAAAGCAGACCT	0.423		NaN											0	0	0	0.000602	0	5	188				
ZIC2	7546	broad.mit.edu	37	13	100635308	100635308	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:100635308G>C	uc001von.2	+	1	990	c.990G>C	c.(988-990)GAG>GAC	p.E330D		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	330					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACACAGGCGAGAAACCCTTCC	0.607		NaN											0	0	0	0.000602	0	5	114				
OR6S1	341799	broad.mit.edu	37	14	21108987	21108987	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:21108987C>G	uc001vxv.1	-	1	864	c.864G>C	c.(862-864)TTG>TTC	p.L288F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGAATGGATTCAACAGTGGTG	0.443		NaN											0	0	0	0.001168	0	6	238				
GZMB	3002	broad.mit.edu	37	14	25101100	25101100	+	Silent	SNP	G	G	A	rs149659869	by1000genomes	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:25101100G>A	uc001wps.2	-	4	630	c.564C>T	c.(562-564)TGC>TGT	p.C188C	GZMB_uc010ama.2_Silent_p.C176C|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	188	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)		GGTCCCCCACGCACAACTCAA	0.458		NaN											0	0	0	0.001168	0	6	244				
INSM2	84684	broad.mit.edu	37	14	36003540	36003540	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:36003540C>G	uc001wth.1	+	1	293	c.82C>G	c.(82-84)CTG>GTG	p.L28V		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGTCTTCCCTCTGCTGGGGCC	0.687		NaN											0	0	0	0.003163	0	14	32				
GNG2	54331	broad.mit.edu	37	14	52433361	52433361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:52433361G>C	uc001wzi.2	+	4	701	c.172G>C	c.(172-174)GAA>CAA	p.E58Q	GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.E58Q	NM_053064	NP_444292	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein),	58					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity				0	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCCGGCTTCAGAAAACCCGTT	0.522		NaN											0	0	0	0.00361	0	75	112				
GPR135	64582	broad.mit.edu	37	14	59930507	59930507	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:59930507C>T	uc010apj.2	-	1	1553	c.1438G>A	c.(1438-1440)GCA>ACA	p.A480T	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	480	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTGGTCACTGCCGTCACCGGC	0.547		NaN											0	0	0	0.00308	0	7	20				
VASH1	22846	broad.mit.edu	37	14	77242312	77242313	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:77242312_77242313GC>AT	uc001xst.2	+	5	1538_1539	c.608_609GC>AT	c.(607-609)CGC>CAT	p.R203H		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	203					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AACTACTTCCGCCACATCGTGC	0.629		NaN											0	0	0	0.004672	0	3	7				
BRF1	2972	broad.mit.edu	37	14	105707692	105707692	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:105707692C>T	uc001yqp.2	-	6	967	c.604G>A	c.(604-606)GAG>AAG	p.E202K	BRF1_uc010tyo.1_Missense_Mutation_p.E87K|BRF1_uc010typ.1_Missense_Mutation_p.E87K|BRF1_uc001yql.2_5'UTR|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.E175K|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_Intron	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	202	2.				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATGGACACCTCGTGGTTCTTC	0.637		NaN											0	0	0	0.004007	0	16	41				
CYFIP1	23191	broad.mit.edu	37	15	22980128	22980128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:22980128C>G	uc001yus.2	+	23	2730	c.2626C>G	c.(2626-2628)CAA>GAA	p.Q876E	CYFIP1_uc001yut.2_Missense_Mutation_p.Q876E|CYFIP1_uc010aya.1_Missense_Mutation_p.Q904E|CYFIP1_uc001yuu.2_Missense_Mutation_p.Q445E|CYFIP1_uc001yuv.2_Missense_Mutation_p.Q70E	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	876					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCAGGAATTTCAAAGAGATAA	0.358		NaN											0	0	0	0.00245	0	14	151				
BAHD1	22893	broad.mit.edu	37	15	40758317	40758317	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:40758317G>C	uc001zlu.2	+	7	2402	c.2331G>C	c.(2329-2331)AAG>AAC	p.K777N	BAHD1_uc001zlt.2_Missense_Mutation_p.K776N|BAHD1_uc010bbp.1_Missense_Mutation_p.K773N|BAHD1_uc001zlv.2_Missense_Mutation_p.K774N	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	777	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCATCCTTAAGAACCCCCAGT	0.627		NaN											0	0	0	0.010504	0	15	43				
RPAP1	26015	broad.mit.edu	37	15	41817271	41817271	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:41817271C>T	uc001zod.2	-	15	2117	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K	RPAP1_uc001zoc.2_5'Flank	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	665						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCAGCTTCCTCTGGGGGCAAG	0.617		NaN											0	0	0	0.004289	0	34	16				
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138489	42138489	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:42138489G>T	uc010bco.2	+	17	1790	c.1689G>T	c.(1687-1689)TGG>TGT	p.W563C	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.W264C|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	563	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TTCTGACGTGGCGTCCACTGG	0.522		NaN											1	0	0.00198382	0.001984	0.00203743	6	89				
UBR1	197131	broad.mit.edu	37	15	43339472	43339472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:43339472G>A	uc001zqq.2	-	14	1621	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	UBR1_uc010udk.1_Nonsense_Mutation_p.R519*	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	519					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTGTCTTCGGATTTCTTCC	0.423		NaN											0	0	0	0.006214	0	9	234				
UNC13C	440279	broad.mit.edu	37	15	54435219	54435219	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:54435219C>T	uc002ack.2	+	2	2988	c.2988C>T	c.(2986-2988)AGC>AGT	p.S996S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	996					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAGATAGCAGTTCTGTGG	0.313		NaN											0	0	0	0.001368	0	10	83				
DIS3L	115752	broad.mit.edu	37	15	66621672	66621672	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:66621672A>G	uc010ujm.1	+	14	2485	c.2470A>G	c.(2470-2472)AAG>GAG	p.K824E	DIS3L_uc002app.2_Missense_Mutation_p.K741E|DIS3L_uc010bho.2_Missense_Mutation_p.K690E	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	824					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						AATGGAAATTAAGGGAAATCT	0.333		NaN											0	0	0	0.001984	0	7	64				
CCDC33	80125	broad.mit.edu	37	15	74573023	74573023	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:74573023C>G	uc002axo.2	+	9	1298	c.904C>G	c.(904-906)CCG>GCG	p.P302A	CCDC33_uc002axp.2_Missense_Mutation_p.P124A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	505							protein binding			ovary(3)|skin(2)	5						AGGCAGCCAGCCGTGGACCCT	0.582		NaN											0	0	0	0.001984	0	7	67				
LMAN1L	79748	broad.mit.edu	37	15	75116785	75116785	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:75116785C>G	uc002ayt.1	+	13	1419	c.1417C>G	c.(1417-1419)CAG>GAG	p.Q473E	LMAN1L_uc010bke.1_Missense_Mutation_p.Q461E|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	473	Helical; (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CCTCCTCATTCAGACTGTAGG	0.597		NaN											0	0	0	0.00308	0	7	122				
TMC3	342125	broad.mit.edu	37	15	81628953	81628953	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:81628953C>G	uc002bgo.1	-	20	2200	c.2200G>C	c.(2200-2202)GAA>CAA	p.E734Q	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	734	Cytoplasmic (Potential).			E -> EGK (in Ref. 1; AAP78778).		integral to membrane				ovary(1)|liver(1)	2						TACTTACCTTCTACCATCTGG	0.214		NaN											0	0	0	0.001984	0	7	159				
KIF7	374654	broad.mit.edu	37	15	90172769	90172769	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:90172769C>G	uc002bof.2	-	17	3431	c.3354G>C	c.(3352-3354)CAG>CAC	p.Q1118H	KIF7_uc010upw.1_Missense_Mutation_p.Q604H|C15orf42_uc010upv.1_RNA	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1118	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAAGGCAATCTGCTGCTGGT	0.622		NaN											0	0	0	0.00499	0	13	61				
WDR24	84219	broad.mit.edu	37	16	737292	737292	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:737292C>T	uc002ciz.1	-	3	1544	c.784G>A	c.(784-786)GAG>AAG	p.E262K	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	348	WD 4.									ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				TGGCGGCACTCTGGCCGCCAC	0.617		NaN											0	0	0	0.001984	0	4	15				
ZC3H7A	29066	broad.mit.edu	37	16	11855265	11855265	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:11855265A>G	uc002dbk.2	-	18	2514	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	ZC3H7A_uc002dbi.2_5'Flank|ZC3H7A_uc002dbj.2_Intron|ZC3H7A_uc002dbl.2_Silent_p.F772F|ZC3H7A_uc002dbm.1_Silent_p.F682F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	772	C3H1-type 2.					nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TATGTACATCAAACTGTAAAG	0.363		NaN											0	0	0	0.00333	0	22	197				
C16orf62	57020	broad.mit.edu	37	16	19693640	19693640	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:19693640C>T	uc002dgn.1	+	28	2467	c.2455C>T	c.(2455-2457)CGC>TGC	p.R819C	C16orf62_uc002dgo.1_Missense_Mutation_p.R726C|C16orf62_uc002dgp.1_Missense_Mutation_p.R568C	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	819						integral to membrane				ovary(1)	1						TGAGAAAATCCGCATCTACAC	0.532		NaN											0	0	0	0.004482	0	8	88				
ZNF319	57567	broad.mit.edu	37	16	58030577	58030577	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:58030577C>G	uc002emx.1	-	2	2216	c.1593G>C	c.(1591-1593)AAG>AAC	p.K531N		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	531	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGCCCTGGTGCTTGTTGAGAT	0.637		NaN											0	0	0	0.009096	0	4	13				
CMTM2	146225	broad.mit.edu	37	16	66621981	66621981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66621981G>C	uc002ept.2	+	4	866	c.706G>C	c.(706-708)GAA>CAA	p.E236Q	CMTM2_uc010cdu.2_Missense_Mutation_p.E183Q	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	236					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCACCAGAACCTGGCAA	0.532		NaN											0	0	0	0.006214	0	4	75				
NAE1	8883	broad.mit.edu	37	16	66847711	66847711	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66847711G>C	uc002eqf.2	-	12	956	c.879C>G	c.(877-879)CGC>CGG	p.R293R	NAE1_uc002eqe.2_Silent_p.R287R|NAE1_uc002eqg.2_Silent_p.R204R|NAE1_uc010cdv.2_Silent_p.R296R	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	293					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTATGCAGCGATCATCAT	0.308		NaN											0	0	0	0.000978	0	11	136				
FHOD1	29109	broad.mit.edu	37	16	67264128	67264128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67264128C>G	uc002esl.2	-	20	3167	c.3055G>C	c.(3055-3057)GAG>CAG	p.E1019Q	FHOD1_uc002esk.2_Missense_Mutation_p.E78Q|FHOD1_uc010ced.2_Missense_Mutation_p.E826Q	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1019					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGAACTTCTCTGTCTGGAGA	0.592		NaN											0	0	0	0.001984	0	6	74				
FAM65A	79567	broad.mit.edu	37	16	67578917	67578917	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67578917G>T	uc010vjp.1	+	17	3084	c.2988G>T	c.(2986-2988)GAG>GAT	p.E996D	FAM65A_uc002eth.2_Missense_Mutation_p.E976D|FAM65A_uc010cej.2_Missense_Mutation_p.E979D|FAM65A_uc010vjq.1_Missense_Mutation_p.E990D|FAM65A_uc002etk.2_Missense_Mutation_p.E974D	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	980						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGTGCACAGAGAGACTCAGCT	0.642		NaN											1	0	2.27111e-07	0.001368	2.41558e-07	10	272				
PARD6A	50855	broad.mit.edu	37	16	67695398	67695398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67695398C>A	uc002ett.2	+	2	195	c.104C>A	c.(103-105)TCG>TAG	p.S35*	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Nonsense_Mutation_p.S35*|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTCGCGCTTCGGTGAGCGGC	0.657		NaN											1	0	1.15919e-05	0.008871	1.21744e-05	18	78				
PARD6A	50855	broad.mit.edu	37	16	67696109	67696109	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67696109G>C	uc002ett.2	+	3	691	c.600G>C	c.(598-600)GGG>GGC	p.G200G	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.G199G|PARD6A_uc002etu.2_Silent_p.G24G	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	200	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGTACGTGGGGGTCTGGCTG	0.612		NaN											0	0	0	0.001368	0	9	83				
MARVELD3	91862	broad.mit.edu	37	16	71668136	71668136	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:71668136C>T	uc002fat.2	+	3	699	c.636C>T	c.(634-636)ATC>ATT	p.I212I	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	212	MARVEL.|Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				ACTTGCTGATCCTGGCCTGCA	0.527		NaN											0	0	0	0.00361	0	178	99				
MBTPS1	8720	broad.mit.edu	37	16	84135448	84135448	+	Translation_Start_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:84135448G>C	uc002fhi.2	-	2	443	c.-59C>G	c.(-61--57)ATCAA>ATGAA			NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TTTTCTTCTTGATTAAAAGTG	0.348		NaN											0	0	0	0.001984	0	7	35				
ACSF3	197322	broad.mit.edu	37	16	89211739	89211739	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:89211739C>G	uc002fmp.2	+	9	1771	c.1431C>G	c.(1429-1431)ATC>ATG	p.I477M	ACSF3_uc010cig.1_Missense_Mutation_p.I477M|ACSF3_uc010cih.1_Missense_Mutation_p.I212M|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.I212M	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	477					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGACATCATCAAGACTGGAG	0.622		NaN											0	0	0	0.00308	0	6	22				
ANKFY1	51479	broad.mit.edu	37	17	4086740	4086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:4086740G>C	uc002fxq.1	-	14	1943	c.1905C>G	c.(1903-1905)AGC>AGG	p.S635R	ANKFY1_uc002fxn.2_Missense_Mutation_p.S677R|ANKFY1_uc002fxo.2_Missense_Mutation_p.S635R|ANKFY1_uc002fxp.2_Missense_Mutation_p.S634R|ANKFY1_uc010ckp.2_Missense_Mutation_p.S576R	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	635	ANK 9.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GTGCGCTCTTGCTGTCCTGCC	0.557		NaN											0	0	0	0.008291	0	10	50				
ZNF594	84622	broad.mit.edu	37	17	5086349	5086349	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:5086349C>T	uc010cla.1	-	2	1359	c.1203G>A	c.(1201-1203)GAG>GAA	p.E401E		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						CATATGGTTTCTCTCCTGTAT	0.408		NaN											0	0	0	0.00499	0	17	303				
TP53	7157	broad.mit.edu	37	17	7577121	7577122	+	Missense_Mutation	DNP	GC	GC	TT	rs121913343		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			GC	TT	GC	GC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7577121_7577122GC>TT	uc002gim.2	-	8	1010_1011	c.816_817GC>AA	c.(814-819)GTGCGT>GTAAGT	p.R273S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141S|TP53_uc010cng.1_Missense_Mutation_p.R141S|TP53_uc002gii.1_Missense_Mutation_p.R141S|TP53_uc010cnh.1_Missense_Mutation_p.R273S|TP53_uc010cni.1_Missense_Mutation_p.R273S|TP53_uc002gij.2_Missense_Mutation_p.R273S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.V272V(3)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273R(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAGC	0.54	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.004672	0	7	10		Valid		
CHD3	1107	broad.mit.edu	37	17	7806657	7806657	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7806657C>T	uc002gje.2	+	23	3713	c.3563C>T	c.(3562-3564)GCG>GTG	p.A1188V	CHD3_uc002gjd.2_Missense_Mutation_p.A1247V|CHD3_uc002gjf.2_Missense_Mutation_p.A1188V|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1188	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GTGACTCGCGCGTCAGTGGAA	0.582		NaN											0	0	0	0.000602	0	4	54				
MYH4	4622	broad.mit.edu	37	17	10351974	10351974	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:10351974G>C	uc002gmn.2	-	32	4603	c.4492C>G	c.(4492-4494)CAT>GAT	p.H1498D	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1498	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTTTCAAGATGATCCAGGGAT	0.428		NaN											0	0	0	0.006214	0	6	150				
AKAP10	11216	broad.mit.edu	37	17	19861601	19861601	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:19861601A>T	uc002gwo.2	-	4	740	c.603T>A	c.(601-603)GAT>GAA	p.D201E	AKAP10_uc002gwp.1_Missense_Mutation_p.D201E|AKAP10_uc010cqw.1_Missense_Mutation_p.D201E|AKAP10_uc010vze.1_Missense_Mutation_p.D122E	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	201	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TATCAAGAGAATCAGTTAAAA	0.408		NaN											0	0	0	0.001368	0	12	37				
ZNF207	7756	broad.mit.edu	37	17	30678830	30678830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:30678830G>A	uc002hhh.3	+	2	215	c.67G>A	c.(67-69)GAG>AAG	p.E23K	ZNF207_uc002hhj.3_Missense_Mutation_p.E23K|ZNF207_uc002hhi.3_Missense_Mutation_p.E23K|ZNF207_uc010csz.2_Missense_Mutation_p.E26K|ZNF207_uc002hhk.1_Missense_Mutation_p.E23K	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	23	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTTGATGATGAGAAGATCCT	0.338		NaN											0	0	0	0.007413	0	18	616				
MYO1D	4642	broad.mit.edu	37	17	31092057	31092057	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:31092057C>T	uc002hho.1	-	8	886	c.874G>A	c.(874-876)GAG>AAG	p.E292K	MYO1D_uc002hhp.1_Missense_Mutation_p.E292K|MYO1D_uc010wcb.1_Missense_Mutation_p.E292K	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	292	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGCCATTCTCAATAAGAGGC	0.368		NaN											0	0	0	0.00308	0	7	350				
EZH1	2145	broad.mit.edu	37	17	40874816	40874816	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40874816C>G	uc002iaz.2	-	6	629	c.484G>C	c.(484-486)GAA>CAA	p.E162Q	EZH1_uc002iba.2_Missense_Mutation_p.E153Q|EZH1_uc010wgt.1_Missense_Mutation_p.E92Q|EZH1_uc010wgu.1_Missense_Mutation_p.E168Q|EZH1_uc010wgv.1_Missense_Mutation_p.E122Q|EZH1_uc010wgw.1_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Missense_Mutation_p.E79Q|EZH1_uc010cys.2_Missense_Mutation_p.E113Q|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	162					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCACTACCTTCTTCACCATGG	0.403		NaN											0	0	0	0.004672	0	3	95				
EPN3	55040	broad.mit.edu	37	17	48618412	48618412	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:48618412C>T	uc002ira.3	+	7	1673	c.1238C>T	c.(1237-1239)TCC>TTC	p.S413F	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S441F|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S386F	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	413						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTGGAGACCTCCGACACACCT	0.637		NaN											0	0	0	0.00499	0	15	16				
APPBP2	10513	broad.mit.edu	37	17	58531675	58531675	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:58531675C>T	uc002iys.1	-	11	1614	c.1326G>A	c.(1324-1326)ATG>ATA	p.M442I	APPBP2_uc010ddl.1_Missense_Mutation_p.M371I	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	442	TPR 6.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAAATTTTCTCATTGACTGAT	0.294		NaN											0	0	0	0.001168	0	5	139				
BRIP1	83990	broad.mit.edu	37	17	59763273	59763273	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59763273G>A	uc002izk.1	-	19	2970	c.2829C>T	c.(2827-2829)GTC>GTT	p.V943V	BRIP1_uc002izl.1_Silent_p.V324V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	943	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						GTAGTTCCTGGACACATATCT	0.363		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00361	0	44	323				
BRIP1	83990	broad.mit.edu	37	17	59853848	59853848	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59853848C>G	uc002izk.1	-	14	2152	c.2011G>C	c.(2011-2013)GAG>CAG	p.E671Q	BRIP1_uc002izl.1_Missense_Mutation_p.E52Q	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	671					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						TCTTGGAACTCAAATGTTTCA	0.418		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00308	0	8	192				
MED13	9969	broad.mit.edu	37	17	60023934	60023934	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:60023934G>C	uc002izo.2	-	30	6497	c.6420C>G	c.(6418-6420)CTC>CTG	p.L2140L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2140					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TTAGCCAGGAGAGTGCATTGT	0.373		NaN											0	0	0	0.001984	0	7	85				
AXIN2	8313	broad.mit.edu	37	17	63532561	63532561	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:63532561G>T	uc002jfi.2	-	8	2307	c.2018C>A	c.(2017-2019)ACC>AAC	p.T673N	AXIN2_uc002jfh.2_Missense_Mutation_p.T608N	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	673					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGCACGGGGGGTGGTGCGGGG	0.682		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				1	0	0.000274275	0.004482	0.000283079	8	31				
RNF157	114804	broad.mit.edu	37	17	74152378	74152378	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:74152378C>T	uc002jqz.2	-	14	1507	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	RNF157_uc002jra.2_Missense_Mutation_p.E480K	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	480	Ser-rich.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAGATTCTCACTTTCTGGA	0.562		NaN											0	0	0	0.000978	0	10	60				
SLC25A10	1468	broad.mit.edu	37	17	79674028	79674028	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:79674028C>G	uc010wut.1	+	4	563	c.438C>G	c.(436-438)ATC>ATG	p.I146M	MRPL12_uc002kbh.1_Missense_Mutation_p.I146M	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	Error:Variant_position_missing_in_Q9UBX3_after_alignment					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGAAGCTGATCAAGGAAATCA	0.582		NaN											0	0	0	0.000602	0	5	54				
C17orf62	79415	broad.mit.edu	37	17	80403819	80403819	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:80403819C>G	uc002kez.2	-	4	267	c.219G>C	c.(217-219)AAG>AAC	p.K73N	C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.K73N|C17orf62_uc010dir.2_Missense_Mutation_p.K73N|C17orf62_uc002kfb.3_Missense_Mutation_p.K73N|C17orf62_uc002kfc.3_Missense_Mutation_p.K59N|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR|C17orf62_uc010dis.1_Missense_Mutation_p.K73N	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	73						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCCTGTGCTCTTGTCGAAGA	0.607		NaN											0	0	0	0.004672	0	3	34				
NDC80	10403	broad.mit.edu	37	18	2599084	2599084	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:2599084G>C	uc002kli.2	+	12	1470	c.1288G>C	c.(1288-1290)GAG>CAG	p.E430Q		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	430	Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						TAAAGGTGCTGAGAATTCCAA	0.353		NaN											0	0	0	0.000978	0	12	78				
MALT1	10892	broad.mit.edu	37	18	56402448	56402448	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:56402448A>T	uc002lhm.1	+	13	1748	c.1490A>T	c.(1489-1491)GAA>GTA	p.E497V	MALT1_uc002lhn.1_Missense_Mutation_p.E486V	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	497	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						CAAGGAGCAGAAGCTTTTGAA	0.184		NaN	T	BIRC3	MALT								0	0	0	0.002299	0	23	33				
ZNF236	7776	broad.mit.edu	37	18	74593443	74593443	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:74593443A>G	uc002lmi.2	+	9	1584	c.1386A>G	c.(1384-1386)ATA>ATG	p.I462M	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.I462M	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	462					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAAAAATGATAAAGAAGAAGT	0.383		NaN											0	0	0	0.008871	0	20	16				
CHAF1A	10036	broad.mit.edu	37	19	4409533	4409533	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4409533T>G	uc002mal.2	+	3	837	c.737T>G	c.(736-738)TTG>TGG	p.L246W		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	246	PxVxL motif.|Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACATCTTGGCTGTGAGA	0.562		NaN						Chromatin_Structure					0	0	0	0.00308	0	7	32				
FEM1A	55527	broad.mit.edu	37	19	4793524	4793524	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4793524A>G	uc002mbf.2	+	1	1797	c.1658A>G	c.(1657-1659)TAT>TGT	p.Y553C	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	553	ANK 8.				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGGCCGCTATCCCGTGGGC	0.632		NaN											0	0	0	0.004007	0	16	28				
ACTL9	284382	broad.mit.edu	37	19	8808755	8808755	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:8808755G>C	uc002mkl.2	-	1	418	c.297C>G	c.(295-297)GGC>GGG	p.G99G		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	99						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GGGCTGCCTCGCCGATGAACG	0.706		NaN											0	0	0	0.004672	0	3	18				
KRI1	65095	broad.mit.edu	37	19	10671688	10671688	+	Silent	SNP	C	C	T	rs140755508		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:10671688C>T	uc002moy.1	-	8	681	c.672G>A	c.(670-672)CTG>CTA	p.L224L	KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.L220L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	224	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCAGTTCCTTCAGGGAATCTG	0.547		NaN											0	0	0	0.002299	0	21	42				
PDE4C	5143	broad.mit.edu	37	19	18330071	18330071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:18330071C>G	uc010xqc.1	-	8	1419	c.939G>C	c.(937-939)CAG>CAC	p.Q313H	PDE4C_uc002nik.3_Missense_Mutation_p.Q313H|PDE4C_uc002nil.3_Missense_Mutation_p.Q313H|PDE4C_uc002nif.3_Missense_Mutation_p.Q82H|PDE4C_uc002nig.3_Missense_Mutation_p.Q83H|PDE4C_uc002nih.3_Missense_Mutation_p.Q83H|PDE4C_uc010ebk.2_Missense_Mutation_p.Q207H|PDE4C_uc002nii.3_Missense_Mutation_p.Q281H|PDE4C_uc010ebl.2_Missense_Mutation_p.Q27H|PDE4C_uc010xqd.1_Missense_Mutation_p.Q82H	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	313					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	CCTGGTCAGTCTGGACCCCAA	0.622		NaN											0	0	0	0.004672	0	3	56				
RYR1	6261	broad.mit.edu	37	19	39063871	39063871	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:39063871G>C	uc002oit.2	+	96	14183	c.14053G>C	c.(14053-14055)GAT>CAT	p.D4685H	RYR1_uc002oiu.2_Missense_Mutation_p.D4680H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4685					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGAGTTTGATGGCCTGTA	0.617		NaN											0	0	0	0.000602	0	5	92				
EID2	163126	broad.mit.edu	37	19	40030087	40030087	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40030087C>T	uc002oma.2	-	1	752	c.633G>A	c.(631-633)ACG>ACA	p.T211T		NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	CREBBP/EP300 inhibitor 2	211					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCAGAGCTATCGTAAAGGTTA	0.448		NaN											0	0	0	0.001168	0	6	230				
LGALS13	29124	broad.mit.edu	37	19	40095312	40095312	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40095312C>G	uc002omb.2	+	2	126	c.86C>G	c.(85-87)TCT>TGT	p.S29C		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13	29	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CCAATCCACTCTTTTATGTGA	0.453		NaN											0	0	0	0.00361	0	106	140				
ZNF780A	284323	broad.mit.edu	37	19	40582009	40582009	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40582009C>G	uc002omy.2	-	6	565	c.340G>C	c.(340-342)GAG>CAG	p.E114Q	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E114Q|ZNF780A_uc010xvh.1_Missense_Mutation_p.E115Q	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAAGGCCTCAATGCCAAGA	0.328		NaN											0	0	0	0.000978	0	11	245				
C19orf47	126526	broad.mit.edu	37	19	40842021	40842021	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40842021C>G	uc002oni.3	-	4	330	c.329G>C	c.(328-330)CGT>CCT	p.R110P	C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Missense_Mutation_p.R43P	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	110										ovary(1)|skin(1)	2			Lung(22;0.000636)			ACCCACCTGACGGTGCACCAC	0.547		NaN											0	0	0	0.004672	0	3	89				
HIPK4	147746	broad.mit.edu	37	19	40886914	40886914	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40886914C>T	uc002onp.2	-	3	1269	c.984G>A	c.(982-984)CTG>CTA	p.L328L		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	328	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACTCCCAGGTCAGCATGCGCT	0.647		NaN											0	0	0	0.009096	0	4	109				
ZNF233	353355	broad.mit.edu	37	19	44778142	44778142	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:44778142G>A	uc002oyz.1	+	5	1456	c.1329G>A	c.(1327-1329)CAG>CAA	p.Q443Q	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.Q258Q	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				GTCTTCACCAGAGAGTTCACA	0.428		NaN											0	0	0	0.004878	0	36	89				
EML2	24139	broad.mit.edu	37	19	46117878	46117878	+	Missense_Mutation	SNP	C	C	G	rs35344004		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:46117878C>G	uc002pcn.2	-	17	1713	c.1678G>C	c.(1678-1680)GGG>CGG	p.G560R	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.G444R|EML2_uc010xxl.1_Missense_Mutation_p.G707R|EML2_uc010xxm.1_Missense_Mutation_p.G761R	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	560					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCCCAAACCCTAGGACACAA	0.448		NaN											0	0	0	0.002522	0	42	155				
HRC	3270	broad.mit.edu	37	19	49657670	49657670	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49657670G>T	uc002pmv.2	-	1	1012	c.825C>A	c.(823-825)GGC>GGA	p.G275G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	275	2-5.|6 X approximate tandem repeats.|4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CAATCCCGTGGCCTTGGTGCC	0.373		NaN											1	0	6.12954e-19	0.004656	6.79614e-19	27	44				
TRPM4	54795	broad.mit.edu	37	19	49692258	49692258	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49692258C>G	uc002pmw.2	+	14	2001	c.1929C>G	c.(1927-1929)CTC>CTG	p.L643L	TRPM4_uc010emu.2_Silent_p.L643L|TRPM4_uc010yak.1_Silent_p.L107L|TRPM4_uc002pmx.2_Silent_p.L469L|TRPM4_uc010emv.2_Silent_p.L528L|TRPM4_uc010yal.1_Silent_p.L289L|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	643	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTCCTCCTCCGTCGCTGCC	0.617		NaN											0	0	0	0.00361	0	43	83				
ZNF616	90317	broad.mit.edu	37	19	52620235	52620235	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:52620235T>C	uc002pym.2	-	4	465	c.182A>G	c.(181-183)GAG>GGG	p.E61G	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTACTGTTCTCTGTTGGTGG	0.323		NaN											0	0	0	0.003163	0	14	232				
ZNF816A	125893	broad.mit.edu	37	19	53454831	53454831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:53454831G>C	uc002qal.1	-	5	498	c.197C>G	c.(196-198)TCT>TGT	p.S66C	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.S50C	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		GGATTTTAAAGAGCTATCTAA	0.333		NaN											0	0	0	0.006999	0	41	86				
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:54823808G>A	uc002qfe.2	-	2	207	c.87C>T	c.(85-87)CTC>CTT	p.L29L	LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	29					innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602		NaN											0	0	0	0.00333	0	24	19				
NLRP7	199713	broad.mit.edu	37	19	55451137	55451137	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:55451137C>T	uc002qih.3	-	4	1126	c.1050G>A	c.(1048-1050)ATG>ATA	p.M350I	NLRP7_uc002qig.3_Missense_Mutation_p.M350I|NLRP7_uc002qii.3_Missense_Mutation_p.M350I|NLRP7_uc010esk.2_Missense_Mutation_p.M350I|NLRP7_uc010esl.2_Missense_Mutation_p.M378I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	350	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CGTTGCTCCTCATTAGCTCAA	0.612		NaN											0	0	0	0.009096	0	4	48				
TPO	7173	broad.mit.edu	37	2	1480894	1480894	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:1480894T>A	uc002qww.2	+	8	947	c.856T>A	c.(856-858)TGT>AGT	p.C286S	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.C286S|TPO_uc002qwr.2_Missense_Mutation_p.C286S|TPO_uc002qwx.2_Missense_Mutation_p.C286S|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.C286S	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	286	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGCACCGCCTGTCTGCCCTT	0.692		NaN											0	0	0	0.001984	0	4	7				
LPIN1	23175	broad.mit.edu	37	2	11944642	11944642	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:11944642C>G	uc010yjn.1	+	16	2273	c.1999C>G	c.(1999-2001)CTG>GTG	p.L667V	LPIN1_uc010yjm.1_Missense_Mutation_p.L752V|LPIN1_uc002rbt.2_Missense_Mutation_p.L667V|LPIN1_uc010yjo.1_Missense_Mutation_p.L168V	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	667	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CACCATCTATCTGTGGAACTG	0.478		NaN											0	0	0	0.000978	0	11	103				
NCOA1	8648	broad.mit.edu	37	2	24929441	24929441	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:24929441C>T	uc002rfk.2	+	11	1360	c.1102C>T	c.(1102-1104)CAC>TAC	p.H368Y	NCOA1_uc010eye.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfi.2_Missense_Mutation_p.H217Y|NCOA1_uc002rfj.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfl.2_Missense_Mutation_p.H368Y	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	368	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGGGAGCACAGTGGGCT	0.378		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.001168	0	4	63				
KCNK3	3777	broad.mit.edu	37	2	26950989	26950989	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:26950989C>T	uc002rhn.2	+	2	901	c.738C>T	c.(736-738)TTC>TTT	p.F246F		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	246	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCGCTTCATGACCATGA	0.697		NaN											0	0	0	0.001984	0	6	4				
C2orf63	130162	broad.mit.edu	37	2	55407837	55407837	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:55407837G>C	uc002ryi.2	-	11	1539	c.1193C>G	c.(1192-1194)TCT>TGT	p.S398C	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.S276C	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	398							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AGCCTCCTCAGAAAATGTCAG	0.418		NaN											0	0	0	0.006122	0	15	73				
CCDC142	84865	broad.mit.edu	37	2	74709901	74709901	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:74709901G>C	uc002slr.2	-	1	457	c.64C>G	c.(64-66)CAA>GAA	p.Q22E	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.Q22E|CCDC142_uc002slp.2_Missense_Mutation_p.Q22E	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	22										central_nervous_system(1)	1						CCCCCGGGTTGCGCCCTCAGC	0.672		NaN											0	0	0	0.001984	0	7	63				
C2orf89	129293	broad.mit.edu	37	2	85097589	85097589	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097589G>A	uc010ysl.1	-	2	518	c.429C>T	c.(427-429)CGC>CGT	p.R143R	C2orf89_uc002sou.3_Silent_p.R143R|C2orf89_uc010fgc.1_Silent_p.R143R	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	143	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCCCTTGCCGCGCTGGTCTG	0.582		NaN											0	0	0	0.005443	0	27	49				
C2orf89	129293	broad.mit.edu	37	2	85097649	85097649	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097649G>A	uc010ysl.1	-	2	458	c.369C>T	c.(367-369)CTC>CTT	p.L123L	C2orf89_uc002sou.3_Silent_p.L123L|C2orf89_uc010fgc.1_Silent_p.L123L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	123	Extracellular (Potential).					integral to membrane				ovary(1)	1						GGTGGCGCTTGAGGCGGCAGT	0.572		NaN											0	0	0	0.006122	0	17	26				
MRPL35	51318	broad.mit.edu	37	2	86437695	86437695	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:86437695C>T	uc002srg.3	+	4	529	c.471C>T	c.(469-471)CTC>CTT	p.L157L	MRPL35_uc002srf.3_Silent_p.L157L	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	157					translation	mitochondrial ribosome	structural constituent of ribosome				0						AGAGTAAACTCTTAGATAAAA	0.388		NaN											0	0	0	0.006214	0	10	104				
SLC9A2	6549	broad.mit.edu	37	2	103318920	103318920	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:103318920C>G	uc002tca.2	+	9	1946	c.1804C>G	c.(1804-1806)CGA>GGA	p.R602G		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	602	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						TGATGAAATTCGAGAACTCTT	0.328		NaN											0	0	0	0.001168	0	6	97				
CHCHD5	84269	broad.mit.edu	37	2	113343831	113343831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:113343831G>C	uc002thz.1	+	3	387	c.198G>C	c.(196-198)GAG>GAC	p.E66D	CHCHD5_uc002tia.2_Missense_Mutation_p.E66D	NM_032309	NP_115685	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain	66	CHCH.										0						AGGCCTTCGAGGAGTGTCTTC	0.632		NaN											0	0	0	0.004672	0	3	42				
LIMS2	55679	broad.mit.edu	37	2	128412051	128412051	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:128412051G>A	uc002tpa.2	-	4	472	c.306C>T	c.(304-306)TGC>TGT	p.C102C	LIMS2_uc002tox.2_Silent_p.C126C|LIMS2_uc010fmb.2_Silent_p.C12C|LIMS2_uc002toy.2_Silent_p.C97C|LIMS2_uc010yzm.1_Silent_p.C124C|LIMS2_uc002toz.2_Silent_p.C97C|LIMS2_uc002tpb.2_Silent_p.C97C	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	102	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CACACAGCTCGCAGCGGAAGC	0.617		NaN											0	0	0	0.002445	0	33	73				
LY75	4065	broad.mit.edu	37	2	160738705	160738705	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:160738705G>C	uc002ubc.3	-	7	1245	c.1176C>G	c.(1174-1176)TTC>TTG	p.F392L	LY75_uc002ubb.3_Missense_Mutation_p.F392L|LY75_uc010fos.2_Missense_Mutation_p.F392L|LY75_uc010fot.1_Missense_Mutation_p.F392L	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	392	C-type lectin 2.|Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		GGTCACTACTGAAGGCTTTGC	0.423		NaN											0	0	0	0.004007	0	15	121				
GAD1	2571	broad.mit.edu	37	2	171709254	171709254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:171709254G>C	uc002ugi.2	+	13	1637	c.1215G>C	c.(1213-1215)AAG>AAC	p.K405N	GAD1_uc010fqc.2_Missense_Mutation_p.K24N	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	405					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCCTCACAAGATGATGGGCG	0.507		NaN											0	0	0	0.000602	0	5	28				
SP3	6670	broad.mit.edu	37	2	174819648	174819648	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:174819648G>A	uc002uig.2	-	4	1756	c.1592C>T	c.(1591-1593)TCT>TTT	p.S531F	SP3_uc002uie.2_Missense_Mutation_p.S463F|SP3_uc002uif.2_Missense_Mutation_p.S478F|SP3_uc010zel.1_Missense_Mutation_p.S528F	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	531					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TATACCAGCAGAATCTATAGA	0.433		NaN											0	0	0	0.000602	0	5	122				
GPR155	151556	broad.mit.edu	37	2	175311382	175311382	+	Missense_Mutation	SNP	C	C	T	rs111563303		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:175311382C>T	uc002uit.2	-	13	2361	c.1970G>A	c.(1969-1971)CGA>CAA	p.R657Q	GPR155_uc002uiu.2_Missense_Mutation_p.R657Q|GPR155_uc002uiv.2_Missense_Mutation_p.R657Q|GPR155_uc010fqs.2_Missense_Mutation_p.R629Q	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	657					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						CAACACATGTCGGGTCAGTTG	0.423		NaN											0	0	0	0.006214	0	8	125				
TTN	7273	broad.mit.edu	37	2	179474576	179474576	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179474576C>T	uc010zfg.1	-	221	44094	c.43870G>A	c.(43870-43872)GAA>AAA	p.E14624K	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8319K|TTN_uc010zfi.1_Missense_Mutation_p.E8252K|TTN_uc010zfj.1_Missense_Mutation_p.E8127K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACCTTTCTTCACCCTTA	0.463		NaN											0	0	0	0.00361	0	50	486				
TTN	7273	broad.mit.edu	37	2	179629030	179629030	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179629030C>G	uc010zfg.1	-	43	10213	c.9989_splice	c.e43-1	p.V3330_splice	TTN_uc010zfh.1_Splice_Site_p.V3284_splice|TTN_uc010zfi.1_Splice_Site_p.V3284_splice|TTN_uc010zfj.1_Splice_Site_p.V3284_splice|TTN_uc002umz.1_Splice_Site|TTN_uc002unb.2_Splice_Site_p.V3330_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTGGAACTAAAGAAAGA	0.458		NaN											0	0	0	0.009096	0	4	41				
ORMDL1	94101	broad.mit.edu	37	2	190636562	190636562	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:190636562G>C	uc002urb.3	-	3	1180	c.393C>G	c.(391-393)CTC>CTG	p.L131L	ORMDL1_uc002urc.3_Silent_p.L131L|ORMDL1_uc002urd.3_Silent_p.L131L|ORMDL1_uc002ure.3_Silent_p.L131L	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	131					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GTACACTCAGGAGAGAAGCTG	0.313		NaN											0	0	0	0.001855	0	13	88				
SGOL2	151246	broad.mit.edu	37	2	201436243	201436243	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:201436243G>C	uc002uvw.2	+	7	1287	c.1174G>C	c.(1174-1176)GAA>CAA	p.E392Q	SGOL2_uc010zhd.1_Missense_Mutation_p.E392Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E392Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	392					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAAAACAAATGAACATGGAAT	0.318		NaN											0	0	0	0.00308	0	8	46				
BMPR2	659	broad.mit.edu	37	2	203420419	203420419	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203420419C>G	uc002uzf.3	+	12	3179	c.2031C>G	c.(2029-2031)CTC>CTG	p.L677L	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	677	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ATAAGAACCTCAAGGAAAGCT	0.463		NaN											0	0	0	0.006214	0	10	68				
ICA1L	130026	broad.mit.edu	37	2	203650667	203650667	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203650667G>C	uc002uzh.1	-	13	1471	c.1307C>G	c.(1306-1308)TCA>TGA	p.S436*	ICA1L_uc002uzi.1_Nonsense_Mutation_p.S436*	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	436											0						TGGACTCTGTGAAGGCACTGG	0.323		NaN											0	0	0	0.00499	0	14	74				
CPS1	1373	broad.mit.edu	37	2	211481249	211481249	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:211481249C>G	uc002vee.3	+	21	2803	c.2671C>G	c.(2671-2673)CTG>GTG	p.L891V	CPS1_uc010fur.2_Missense_Mutation_p.L897V|CPS1_uc010fus.2_Missense_Mutation_p.L440V|LOC29034_uc002vef.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	891					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAAAAGACACTGAAAGGCCT	0.398		NaN											0	0	0	0.000602	0	4	107				
ERBB4	2066	broad.mit.edu	37	2	212530179	212530179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:212530179G>T	uc002veg.1	-	15	1838	c.1740C>A	c.(1738-1740)TGC>TGA	p.C580*	ERBB4_uc002veh.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zji.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.C580*|ERBB4_uc010fut.1_Nonsense_Mutation_p.C580*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	580	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAAAATGAGAGCACTTTGTAC	0.393		NaN								TSP Lung(8;0.080)			1	0	0.00307968	0.00308	0.00314745	7	59				
WDR69	164781	broad.mit.edu	37	2	228754637	228754637	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:228754637C>T	uc002vpn.1	+	3	258	c.179C>T	c.(178-180)ACA>ATA	p.T60I	WDR69_uc010zlw.1_Missense_Mutation_p.T45I|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	60										breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCTTCACGAACAGAGCAAGTC	0.383		NaN											0	0	0	0.001855	0	14	56				
DIS3L2	129563	broad.mit.edu	37	2	233075107	233075107	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:233075107T>A	uc010fxz.2	+	10	1472	c.1196T>A	c.(1195-1197)CTC>CAC	p.L399H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	399							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCAAGCCACTCGCTGACGGT	0.512		NaN											0	0	0	0.004672	0	3	31				
GPR35	2859	broad.mit.edu	37	2	241569480	241569480	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:241569480C>G	uc002vzs.1	+	1	686	c.111C>G	c.(109-111)CTC>CTG	p.L37L	GPR35_uc010fzh.1_Silent_p.L68L|GPR35_uc010fzi.1_Silent_p.L68L	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	37	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCTGCTGCTCAACAGCCTGG	0.642		NaN											0	0	0	0.000602	0	5	38				
CPXM1	56265	broad.mit.edu	37	20	2777020	2777020	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:2777020A>T	uc002wgu.2	-	9	1179	c.1115T>A	c.(1114-1116)CTC>CAC	p.L372H	CPXM1_uc010gas.2_Missense_Mutation_p.L372H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	372	Poly-Leu.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						CTGCATCAGGAGCAGAAGCAA	0.642		NaN											0	0	0	0.008291	0	11	86				
PLAGL2	5326	broad.mit.edu	37	20	30784748	30784748	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:30784748G>C	uc002wxn.2	-	3	1215	c.998C>G	c.(997-999)TCT>TGT	p.S333C		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	333						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTGGGGAAGAGATAGGTGA	0.562		NaN											0	0	0	0.001168	0	5	227				
PLCG1	5335	broad.mit.edu	37	20	39802821	39802821	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:39802821G>C	uc002xjp.1	+	31	3821	c.3700G>C	c.(3700-3702)GAT>CAT	p.D1234H	PLCG1_uc002xjo.1_Missense_Mutation_p.D1235H|PLCG1_uc010zwe.1_Missense_Mutation_p.D900H	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	1234					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GCGGGGCTCAGATGCCTCAGG	0.597		NaN											0	0	0	0.004482	0	9	76				
RBPJL	11317	broad.mit.edu	37	20	43943062	43943062	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:43943062A>G	uc002xns.2	+	9	949	c.877A>G	c.(877-879)AAA>GAA	p.K293E	RBPJL_uc002xnt.2_Missense_Mutation_p.K293E	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	293	By similarity.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GATCATCCGTAAAGTAGCAAA	0.577		NaN											0	0	0	0.009096	0	4	163				
ZBP1	81030	broad.mit.edu	37	20	56186846	56186846	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:56186846C>G	uc002xyo.2	-	6	1092	c.811G>C	c.(811-813)GAG>CAG	p.E271Q	ZBP1_uc010gjm.2_Missense_Mutation_p.E270Q|ZBP1_uc002xyp.2_Missense_Mutation_p.E196Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	271	RIP homotypic interaction motif (RHIM) 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGCCTCATCTCATTGCTGTGT	0.632		NaN											0	0	0	0.000602	0	5	20				
NRIP1	8204	broad.mit.edu	37	21	16337647	16337647	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16337647G>C	uc002yjx.2	-	4	3465	c.2867C>G	c.(2866-2868)TCT>TGT	p.S956C		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	956					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTCAGCCACAGAGTTACTTCT	0.418		NaN											0	0	0	0.00623	0	39	193				
NRIP1	8204	broad.mit.edu	37	21	16338392	16338392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16338392C>A	uc002yjx.2	-	4	2720	c.2122G>T	c.(2122-2124)GAA>TAA	p.E708*		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	708					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTACGTCTTTCAAGCAGATTT	0.403		NaN											1	0	4.35082e-09	0.010504	4.69933e-09	20	108				
NRIP1	8204	broad.mit.edu	37	21	16340196	16340196	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340196C>T	uc002yjx.2	-	4	916	c.318G>A	c.(316-318)ATG>ATA	p.M106I		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	106	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGTTTAAATTCATGATAGAAT	0.468		NaN											0	0	0	0.007413	0	18	140				
NRIP1	8204	broad.mit.edu	37	21	16340220	16340220	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340220C>T	uc002yjx.2	-	4	892	c.294G>A	c.(292-294)CGG>CGA	p.R98R		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	98	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACAGCCTCTTCCGCTTTGCTG	0.458		NaN											0	0	0	0.004007	0	15	101				
JAM2	58494	broad.mit.edu	37	21	27062211	27062211	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:27062211C>A	uc002ylp.1	+	3	712	c.167C>A	c.(166-168)ACT>AAT	p.T56N	JAM2_uc011ace.1_Missense_Mutation_p.T56N|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.T56N|JAM2_uc010gli.1_Missense_Mutation_p.T56N	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	56	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0						CCAAAGAAGACTGTTTCCTCC	0.393		NaN											1	0	2.35188e-11	0.006122	2.58707e-11	16	211				
BACH1	571	broad.mit.edu	37	21	30701862	30701862	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:30701862C>G	uc002ynj.2	+	4	1739	c.1624C>G	c.(1624-1626)CAG>GAG	p.Q542E	BACH1_uc002ynk.2_Missense_Mutation_p.Q542E|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	542						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						AAATGATTTTCAGTCCTTGTT	0.343		NaN											0	0	0	0.008291	0	11	41				
DNAJC28	54943	broad.mit.edu	37	21	34860591	34860591	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:34860591C>G	uc002yrv.2	-	2	1559	c.1110G>C	c.(1108-1110)AAG>AAC	p.K370N	DNAJC28_uc002yrw.2_Missense_Mutation_p.K370N	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	370				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding				0						AAAAACCTTTCTTGATTTCAG	0.318		NaN											0	0	0	0.010504	0	20	94				
PDE9A	5152	broad.mit.edu	37	21	44179187	44179187	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:44179187A>T	uc002zbm.2	+	11	952	c.889A>T	c.(889-891)AGG>TGG	p.R297W	PDE9A_uc002zbn.2_Missense_Mutation_p.R170W|PDE9A_uc002zbo.2_Missense_Mutation_p.R244W|PDE9A_uc002zbp.2_Missense_Mutation_p.R90W|PDE9A_uc002zbq.2_Missense_Mutation_p.R195W|PDE9A_uc002zbs.2_Missense_Mutation_p.R90W|PDE9A_uc002zbr.2_Missense_Mutation_p.R90W|PDE9A_uc002zbt.2_Missense_Mutation_p.R169W|PDE9A_uc002zbu.2_Missense_Mutation_p.R163W|PDE9A_uc002zbv.2_Missense_Mutation_p.R137W|PDE9A_uc002zbw.2_Missense_Mutation_p.R80W|PDE9A_uc002zbx.2_Missense_Mutation_p.R237W|PDE9A_uc002zby.2_Missense_Mutation_p.R80W|PDE9A_uc002zbz.2_Missense_Mutation_p.R189W|PDE9A_uc002zca.2_Missense_Mutation_p.R256W|PDE9A_uc002zcb.2_Missense_Mutation_p.R271W|PDE9A_uc002zcc.2_Missense_Mutation_p.R196W|PDE9A_uc002zcd.2_Missense_Mutation_p.R211W|PDE9A_uc002zce.2_Missense_Mutation_p.R230W|PDE9A_uc002zcf.2_Missense_Mutation_p.R90W|PDE9A_uc002zcg.2_Missense_Mutation_p.R90W|PDE9A_uc002zch.2_Missense_Mutation_p.R80W|PDE9A_uc010gpf.1_Missense_Mutation_p.R90W	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	297	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CACCCTCAGGAGGTGGCTGGT	0.587		NaN											0	0	0	0.009096	0	3	30				
GAB4	128954	broad.mit.edu	37	22	17449260	17449260	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:17449260C>T	uc002zlw.2	-	5	1059	c.951G>A	c.(949-951)AAG>AAA	p.K317K	GAB4_uc010gqs.1_Missense_Mutation_p.V217I	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	317										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGGTGTACTTGCCGGAGG	0.577		NaN											0	0	0	0.00245	0	11	45				
ATP6V1E1	529	broad.mit.edu	37	22	18075495	18075495	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:18075495G>C	uc002zmr.1	-	9	813	c.626C>G	c.(625-627)CCA>CGA	p.P209R	ATP6V1E1_uc002zms.1_Missense_Mutation_p.P179R|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.P187R	NM_001696	NP_001687	P36543	VATE1_HUMAN	vacuolar H+ ATPase E1 isoform a	209					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			large_intestine(1)|central_nervous_system(1)	2		all_epithelial(15;0.206)		Lung(27;0.19)		CCGGACTTCTGGCATCATCTG	0.423		NaN											0	0	0	0.005443	0	25	84				
SEC14L3	266629	broad.mit.edu	37	22	30866040	30866040	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:30866040T>A	uc003ahy.2	-	4	289	c.200A>T	c.(199-201)GAT>GTT	p.D67V	SEC14L3_uc003ahz.2_5'UTR|SEC14L3_uc003aia.2_Missense_Mutation_p.D8V|SEC14L3_uc003aib.2_Missense_Mutation_p.D8V	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	67						integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	ATGGTCAATATCCATGGTCTT	0.542		NaN											0	0	0	0.00361	0	109	59				
APOL1	8542	broad.mit.edu	37	22	36661303	36661303	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:36661303C>T	uc003apf.2	+	6	589	c.421C>T	c.(421-423)CTG>TTG	p.L141L	APOL1_uc011amn.1_Silent_p.L18L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.L157L|APOL1_uc011amo.1_Silent_p.L18L|APOL1_uc011amp.1_Silent_p.L141L|APOL1_uc011amq.1_Silent_p.L123L|APOL1_uc010gwx.2_Silent_p.L18L	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	141					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						AAACTGGTTTCTGAAAGAGTT	0.473		NaN											0	0	0	0.004007	0	16	82				
CACNA1I	8911	broad.mit.edu	37	22	40066081	40066081	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:40066081C>T	uc003ayc.2	+	25	4233	c.4233C>T	c.(4231-4233)TTC>TTT	p.F1411F	CACNA1I_uc003ayd.2_Silent_p.F1376F|CACNA1I_uc003aye.2_Silent_p.F1326F|CACNA1I_uc003ayf.2_Silent_p.F1291F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1411	Helical; Name=S6 of repeat III; (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGCTGTACTTCATCTCCTTCC	0.577		NaN											0	0	0	0.006999	0	37	194				
SAPS2	9701	broad.mit.edu	37	22	50869673	50869673	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:50869673C>G	uc003blb.1	+	12	1619	c.1197C>G	c.(1195-1197)CTC>CTG	p.L399L	SAPS2_uc003bky.1_Silent_p.L399L|SAPS2_uc003bkz.1_Silent_p.L399L|SAPS2_uc003blc.2_Silent_p.L399L|SAPS2_uc003bla.1_Silent_p.L400L|SAPS2_uc003bld.1_5'UTR	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	399						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CCGCTATTCTCTCCCACGCTG	0.547		NaN											0	0	0	0.004878	0	31	100				
CRELD1	78987	broad.mit.edu	37	3	9979321	9979321	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:9979321G>A	uc003bug.2	+	4	451	c.333G>A	c.(331-333)CTG>CTA	p.L111L	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.L111L|CRELD1_uc003buh.2_Silent_p.L111L|CRELD1_uc003bui.2_Silent_p.L111L|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	111	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						TGCTGGAGCTGAGTGAGGAGC	0.602		NaN											0	0	0	0.004672	0	3	10				
VGLL4	9686	broad.mit.edu	37	3	11643348	11643348	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:11643348G>C	uc003bwf.2	-	3	579	c.213C>G	c.(211-213)AAC>AAG	p.N71K	VGLL4_uc010hdx.1_Missense_Mutation_p.N77K|VGLL4_uc003bwg.2_Missense_Mutation_p.N76K|VGLL4_uc011aun.1_Missense_Mutation_p.N12K	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGACGTGGTCGTTGTCACAGT	0.557		NaN											0	0	0	0.001882	0	20	84				
XPC	7508	broad.mit.edu	37	3	14212042	14212042	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:14212042G>T	uc011ave.1	-	3	412	c.308C>A	c.(307-309)CCA>CAA	p.P103Q	XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.P103Q	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	103	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						GAGGTCACTTGGAAAGTCCCT	0.423		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				1	0	0.000151284	0.001855	0.000156915	11	178				
C3orf35	339883	broad.mit.edu	37	3	37458815	37458815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:37458815G>C	uc003cha.3	+	5	722	c.58G>C	c.(58-60)GAA>CAA	p.E20Q	C3orf35_uc003chb.2_Missense_Mutation_p.E20Q	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	AP20 region protein isoform B	20						integral to membrane				central_nervous_system(1)	1						CCCAGAATTTGAAAATGTGAT	0.398		NaN											0	0	0	0.001984	0	7	116				
NKTR	4820	broad.mit.edu	37	3	42679619	42679619	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:42679619C>T	uc003clo.2	+	13	2570	c.2423C>T	c.(2422-2424)TCT>TTT	p.S808F	NKTR_uc003clm.1_Missense_Mutation_p.S555F|NKTR_uc003clp.2_Missense_Mutation_p.S555F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S698F|NKTR_uc003clr.1_Missense_Mutation_p.S555F|NKTR_uc003cls.2_Missense_Mutation_p.S508F	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	808	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTAGATTATTCTTCAGACAGT	0.408		NaN											0	0	0	0.006122	0	17	78				
KIF15	56992	broad.mit.edu	37	3	44846547	44846547	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:44846547G>C	uc003cnx.3	+	15	1865	c.1716G>C	c.(1714-1716)CAG>CAC	p.Q572H	KIF15_uc010hiq.2_Missense_Mutation_p.Q475H|KIF15_uc003cny.1_Missense_Mutation_p.Q207H	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	572	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAAAGCTCAGAAAGAGCCAT	0.274		NaN											0	0	0	0.004007	0	15	59				
STAB1	23166	broad.mit.edu	37	3	52556921	52556921	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:52556921C>T	uc003dej.2	+	62	6949	c.6875C>T	c.(6874-6876)TCA>TTA	p.S2292L	STAB1_uc003dek.1_Missense_Mutation_p.S307L|STAB1_uc003del.2_Missense_Mutation_p.S179L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2292	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGAACCTCTCAGAACGCTGG	0.617		NaN											0	0	0	0.009096	0	4	46				
PTPRG	5793	broad.mit.edu	37	3	62267314	62267314	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:62267314G>A	uc003dlb.2	+	27	4561	c.3842G>A	c.(3841-3843)AGC>AAC	p.S1281N	PTPRG_uc003dlc.2_Missense_Mutation_p.S1252N|PTPRG_uc011bfi.1_Missense_Mutation_p.S527N|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1281	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACCCTTATCAGCAAAGACAGA	0.403		NaN											0	0	0	0.009096	0	4	93				
ADAMTS9	56999	broad.mit.edu	37	3	64644236	64644236	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:64644236C>A	uc003dmg.2	-	4	943	c.911G>T	c.(910-912)AGA>ATA	p.R304I	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R304I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R133I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R304I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	304	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368		NaN											1	0	1.96895e-08	0.00278	2.12119e-08	24	572				
ARL6IP5	10550	broad.mit.edu	37	3	69153637	69153637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:69153637G>A	uc003dnr.2	+	3	526	c.417G>A	c.(415-417)TTG>TTA	p.L139L		NM_006407	NP_006398	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting	139	Cytoplasmic (By similarity).|Targeting to endoplasmic reticulum membrane (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGCATCGTTGAGACTTCGGA	0.443		NaN											0	0	0	0.00278	0	23	759				
CEP97	79598	broad.mit.edu	37	3	101481386	101481386	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:101481386C>G	uc003dvk.1	+	10	1902	c.1875C>G	c.(1873-1875)TTC>TTG	p.F625L	CEP97_uc011bhf.1_Missense_Mutation_p.F566L|CEP97_uc003dvl.1_Missense_Mutation_p.F321L|CEP97_uc003dvm.1_Missense_Mutation_p.F463L	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	625	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						AAGAAGCTTTCAGATTCCTTT	0.328		NaN											0	0	0	0.006122	0	17	123				
CD200	4345	broad.mit.edu	37	3	112054854	112054854	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:112054854A>G	uc003dyw.2	+	2	221	c.77A>G	c.(76-78)AAT>AGT	p.N26S	CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	Error:Variant_position_missing_in_P41217_after_alignment					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				ACCACCATCAATGATTACCAG	0.338		NaN											0	0	0	0.002836	0	33	68				
C3orf1	51300	broad.mit.edu	37	3	119217621	119217621	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:119217621G>A	uc003ecn.2	+	1	254	c.41G>A	c.(40-42)AGA>AAA	p.R14K	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_5'Flank	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	14						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		TTTCTCTGTAGAGCATTGTGC	0.592		NaN											0	0	0	0.009535	0	27	196				
GOLGB1	2804	broad.mit.edu	37	3	121410632	121410632	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:121410632G>C	uc003eei.3	-	14	7690	c.7564C>G	c.(7564-7566)CTC>GTC	p.L2522V	GOLGB1_uc010hrc.2_Missense_Mutation_p.L2527V|GOLGB1_uc003eej.3_Missense_Mutation_p.L2488V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2522	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TCAGAATTGAGATCATCCATA	0.393		NaN											0	0	0	0.004482	0	9	357				
MYLK	4638	broad.mit.edu	37	3	123452592	123452592	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:123452592C>G	uc003ego.2	-	10	1533	c.1251G>C	c.(1249-1251)GAG>GAC	p.E417D	MYLK_uc011bjw.1_Missense_Mutation_p.E417D|MYLK_uc003egp.2_Missense_Mutation_p.E417D|MYLK_uc003egq.2_Missense_Mutation_p.E417D|MYLK_uc003egr.2_Missense_Mutation_p.E417D|MYLK_uc003egs.2_Missense_Mutation_p.E241D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	417	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGCTTGCTCTCAAATTTGG	0.517		NaN											0	0	0	0.001368	0	12	143				
KALRN	8997	broad.mit.edu	37	3	124413264	124413264	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:124413264G>A	uc003ehg.2	+	53	7618	c.7491G>A	c.(7489-7491)CGG>CGA	p.R2497R	KALRN_uc003ehk.2_Silent_p.R800R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TCTGTGGGCGGCCAAAGCCCA	0.532		NaN											0	0	0	0.009096	0	4	117				
ZBTB38	253461	broad.mit.edu	37	3	141162247	141162247	+	Silent	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:141162247T>G	uc003etw.2	+	8	1999	c.1017T>G	c.(1015-1017)CCT>CCG	p.P339P	ZBTB38_uc010hun.2_Silent_p.P336P|ZBTB38_uc010huo.2_Silent_p.P339P|ZBTB38_uc003ety.2_Silent_p.P339P|ZBTB38_uc010hup.2_Silent_p.P340P	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	339					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGGTTCCACCTCTGGTGTACA	0.498		NaN											0	0	0	0.004482	0	7	137				
GMPS	8833	broad.mit.edu	37	3	155632331	155632331	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:155632331G>C	uc003faq.2	+	8	1345	c.1010G>C	c.(1009-1011)AGA>ACA	p.R337T	GMPS_uc011bom.1_Missense_Mutation_p.R238T	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	337					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGAGAAAAGAAAAATCATT	0.328		NaN	T	MLL	AML								0	0	0	0.006214	0	8	92				
KCNAB1	7881	broad.mit.edu	37	3	156232888	156232888	+	Splice_Site	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:156232888G>T	uc003far.2	+	10	809	c.745_splice	c.e10-1	p.E249_splice	KCNAB1_uc011bon.1_Splice_Site_p.E220_splice|KCNAB1_uc003fas.2_Splice_Site_p.E238_splice|KCNAB1_uc003fat.2_Splice_Site_p.E231_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E202_splice|KCNAB1_uc011boo.1_Splice_Site_p.E125_splice	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCTCCCTAGGAAGCCTATT	0.413		NaN											1	0	1.33987e-11	0.008291	1.47775e-11	11	127				
SKIL	6498	broad.mit.edu	37	3	170078501	170078501	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:170078501C>G	uc003fgu.2	+	2	1094	c.382C>G	c.(382-384)CAG>GAG	p.Q128E	SKIL_uc011bps.1_Missense_Mutation_p.Q108E|SKIL_uc003fgv.2_Missense_Mutation_p.Q128E|SKIL_uc003fgw.2_Missense_Mutation_p.Q128E	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	128					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCCATCACCTCAGGTTCTTCC	0.488		NaN											0	0	0	0.005443	0	27	353				
MCF2L2	23101	broad.mit.edu	37	3	183013209	183013209	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:183013209C>G	uc003fli.1	-	13	1644	c.1554G>C	c.(1552-1554)AAG>AAC	p.K518N	MCF2L2_uc003flj.1_Missense_Mutation_p.K518N|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	518					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCACTTGCCTCTTGTGAAATA	0.458		NaN											0	0	0	0.000602	0	4	99				
MAGEF1	64110	broad.mit.edu	37	3	184429334	184429334	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:184429334C>T	uc003fpa.2	-	1	503	c.276G>A	c.(274-276)AAG>AAA	p.K92K		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	92	MAGE.									ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACTCTTCTTCTTGTCTTTCA	0.582		NaN											0	0	0	0.001168	0	5	176				
ATP13A5	344905	broad.mit.edu	37	3	193029620	193029620	+	Silent	SNP	G	G	A	rs112958471		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:193029620G>A	uc011bsq.1	-	20	2430	c.2430C>T	c.(2428-2430)AAC>AAT	p.N810N		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	810					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGCAAGCTGTTGAAATGCT	0.423		NaN											0	0	0	0.001855	0	13	79				
ATP13A3	79572	broad.mit.edu	37	3	194176633	194176633	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:194176633G>C	uc003fty.3	-	7	1021	c.619C>G	c.(619-621)CTA>GTA	p.L207V		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	207	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTTTAATTAGAAGCTTAAAA	0.274		NaN											0	0	0	0.004482	0	7	197				
WFS1	7466	broad.mit.edu	37	4	6303952	6303952	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:6303952C>A	uc003giy.2	+	8	2596	c.2430C>A	c.(2428-2430)TTC>TTA	p.F810L	WFS1_uc003gix.2_Missense_Mutation_p.F810L|WFS1_uc003giz.2_Missense_Mutation_p.F628L	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	810					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GCAGCGAGTTCAAGAGCGTGC	0.662		NaN											1	0	0.00909568	0.009096	0.00918356	4	18				
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:73169735G>A	uc003hgk.1	-	17	2360	c.2323C>T	c.(2323-2325)CGG>TGG	p.R775W	ADAMTS3_uc003hgl.2_Missense_Mutation_p.R116W	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	775	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393		NaN											0	0	0	0.00361	0	92	161				
AFF1	4299	broad.mit.edu	37	4	88012958	88012958	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:88012958T>A	uc003hqj.3	+	6	1591	c.1184T>A	c.(1183-1185)GTC>GAC	p.V395D	AFF1_uc003hqh.1_Missense_Mutation_p.V401D|AFF1_uc011ccy.1_Missense_Mutation_p.V373D|AFF1_uc011ccz.1_Missense_Mutation_p.V402D|AFF1_uc003hqk.3_Missense_Mutation_p.V395D|AFF1_uc011cda.1_Missense_Mutation_p.V33D	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	395						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCTCAGCATGTCAGTTCTGTA	0.284		NaN											0	0	0	0.001168	0	6	9				
SYNPO2	171024	broad.mit.edu	37	4	119979019	119979019	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:119979019C>G	uc010inb.2	+	5	3912	c.3716C>G	c.(3715-3717)TCT>TGT	p.S1239C	SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.S1109C	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	Error:Variant_position_missing_in_Q9UMS6_after_alignment						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						GAAACCAGGTCTGATTACTGT	0.443		NaN											0	0	0	0.001168	0	6	58				
ZNF827	152485	broad.mit.edu	37	4	146686170	146686170	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:146686170T>G	uc003ikn.2	-	13	3248	c.3200A>C	c.(3199-3201)AAA>ACA	p.K1067T	ZNF827_uc003ikm.2_Missense_Mutation_p.K1067T|ZNF827_uc010iox.2_Missense_Mutation_p.K717T|ZNF827_uc003ikl.2_Missense_Mutation_p.K152T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	1067	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					AGTGTGGCATTTCTTATGCTC	0.498		NaN											0	0	0	0.001984	0	5	133				
NPY2R	4887	broad.mit.edu	37	4	156136153	156136153	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:156136153C>A	uc003ioq.2	+	2	1557	c.1062C>A	c.(1060-1062)TCC>TCA	p.S354S	NPY2R_uc003ior.2_Silent_p.S354S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	354	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGAGGTGTCCGTGACATTCA	0.507		NaN											1	0	1.33834e-09	0.007413	1.44929e-09	18	75				
NEIL3	55247	broad.mit.edu	37	4	178281777	178281777	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:178281777C>T	uc003iut.2	+	9	1698	c.1581C>T	c.(1579-1581)GGC>GGT	p.G527G		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	527					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAAACAAGGGCAGGCAGTTTT	0.443		NaN						BER_DNA_glycosylases					0	0	0	0.001168	0	6	102				
EXOC3	11336	broad.mit.edu	37	5	462321	462321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:462321G>T	uc003jba.2	+	9	1680	c.1552G>T	c.(1552-1554)GAG>TAG	p.E518*		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	529					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTGGAAGAGGGTGTGTC	0.547		NaN											1	0	1.61879e-10	0.001368	1.77135e-10	12	249				
SLC9A3	6550	broad.mit.edu	37	5	476396	476396	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:476396G>T	uc003jbe.2	-	13	2100	c.1988C>A	c.(1987-1989)TCC>TAC	p.S663Y	SLC9A3_uc011clx.1_Missense_Mutation_p.S654Y|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	663	Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGACTTGAAGGACTCCAGGCG	0.602		NaN											1	0	2.17888e-05	0.006214	2.27693e-05	9	240				
CDH6	1004	broad.mit.edu	37	5	31317512	31317512	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:31317512G>C	uc003jhe.1	+	10	1869	c.1543G>C	c.(1543-1545)GAT>CAT	p.D515H	CDH6_uc003jhd.1_Missense_Mutation_p.D515H	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	515	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						TGTTGACAAGGATGACCCTTA	0.398		NaN											0	0	0	0.002299	0	20	246				
SPEF2	79925	broad.mit.edu	37	5	35753786	35753786	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35753786C>T	uc003jjo.2	+	24	3502	c.3391C>T	c.(3391-3393)CGG>TGG	p.R1131W	SPEF2_uc003jjp.1_Missense_Mutation_p.R617W	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1131					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGCAGGAGCGGCTTGACAT	0.483		NaN											0	0	0	0.003163	0	10	377				
CAPSL	133690	broad.mit.edu	37	5	35910144	35910144	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35910144T>A	uc003jjt.1	-	4	444	c.349A>T	c.(349-351)ATG>TTG	p.M117L	CAPSL_uc003jju.1_Missense_Mutation_p.M117L	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	117	EF-hand 3.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AAAGCTTGCATGATTACCTCT	0.373		NaN											0	0	0	0.001882	0	21	290				
PAIP1	10605	broad.mit.edu	37	5	43547975	43547975	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:43547975G>C	uc003job.2	-	3	723	c.476C>G	c.(475-477)TCA>TGA	p.S159*	PAIP1_uc003joa.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivp.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Nonsense_Mutation_p.S47*	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	159	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					AACATATTCTGATAGAGTAGG	0.368		NaN											0	0	0	0.003163	0	14	175		Valid		
BDP1	55814	broad.mit.edu	37	5	70786810	70786810	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:70786810G>C	uc003kbp.1	+	11	1756	c.1493_splice	c.e11-1	p.N498_splice	BDP1_uc003kbn.1_Splice_Site_p.N498_splice|BDP1_uc003kbo.2_Splice_Site_p.N498_splice	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTATTTGTAGATAAATGTCA	0.363		NaN											0	0	0	0.001368	0	12	42				
PCSK1	5122	broad.mit.edu	37	5	95743998	95743998	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:95743998C>G	uc003kls.1	-	9	1331	c.1125G>C	c.(1123-1125)ACG>ACC	p.T375T	PCSK1_uc010jbi.1_Silent_p.T65T	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	375	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGCGTCTCCGTGCAGTCAT	0.577		NaN											0	0	0	0.001984	0	6	20				
MCC	4163	broad.mit.edu	37	5	112421001	112421001	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:112421001C>T	uc003kqj.3	-	7	1365	c.835G>A	c.(835-837)GAG>AAG	p.E279K	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E469K|MCC_uc011cwb.1_Missense_Mutation_p.E279K|MCC_uc010jcd.1_Missense_Mutation_p.E241K	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	279					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTGAAGCTCTCTGACCTGA	0.532		NaN											0	0	0	0.003954	0	27	103				
MRPL22	29093	broad.mit.edu	37	5	154346442	154346442	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:154346442C>T	uc003lvy.3	+	7	644	c.606C>T	c.(604-606)ATC>ATT	p.I202I	MRPL22_uc003lvz.3_Silent_p.I122I	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	202					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGACCATCGTTCACACTC	0.438		NaN											0	0	0	0.009096	0	4	20				
MED7	9443	broad.mit.edu	37	5	156565803	156565803	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:156565803G>C	uc010jik.2	-	2	1032	c.640C>G	c.(640-642)CAG>GAG	p.Q214E	MED7_uc003lwm.3_Missense_Mutation_p.Q214E	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	214					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTATAATCTGATCTCTCCTA	0.348		NaN											0	0	0	0.003214	0	43	223				
STK10	6793	broad.mit.edu	37	5	171523528	171523528	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:171523528G>T	uc003mbo.1	-	8	1207	c.907C>A	c.(907-909)CTG>ATG	p.L303M		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	303							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCCGCAGAGCCTTGTTA	0.627		NaN											1	0	0.00198382	0.001984	0.00203743	6	124				
HK3	3101	broad.mit.edu	37	5	176323070	176323070	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:176323070C>T	uc003mfa.2	-	2	183	c.91G>A	c.(91-93)GAG>AAG	p.E31K		NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	31	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTACCAGCTCTGAGCTGTCT	0.587		NaN											0	0	0	0.006122	0	19	57				
ZNF354C	30832	broad.mit.edu	37	5	178506306	178506306	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:178506306G>C	uc003mju.2	+	5	988	c.873G>C	c.(871-873)CTG>CTC	p.L291L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAAACATCTGAGAGTGCATA	0.418		NaN											0	0	0	0.00361	0	62	97				
TBC1D9B	23061	broad.mit.edu	37	5	179292339	179292339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:179292339G>A	uc003mlh.2	-	21	3024	c.2987C>T	c.(2986-2988)CCG>CTG	p.P996L	TBC1D9B_uc003mli.2_Missense_Mutation_p.P979L|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P978L|TBC1D9B_uc003mlf.2_Missense_Mutation_p.P70L|TBC1D9B_uc003mlg.2_Missense_Mutation_p.P155L|TBC1D9B_uc011dgv.1_Missense_Mutation_p.P155L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	996						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATAGTCCGGAGAGCTGGT	0.537		NaN											0	0	0	0.006214	0	7	118				
KIF13A	63971	broad.mit.edu	37	6	17987315	17987315	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:17987315G>C	uc003ncg.3	-	2	221	c.116C>G	c.(115-117)CCT>CGT	p.P39R	KIF13A_uc003ncf.2_Missense_Mutation_p.P39R|KIF13A_uc003nch.3_Missense_Mutation_p.P39R|KIF13A_uc003nci.3_Missense_Mutation_p.P39R|KIF13A_uc003nck.2_RNA	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	39	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGAAGGAGGAGGGTGCAGGAC	0.562		NaN											0	0	0	0.008291	0	9	123				
ZSCAN16	80345	broad.mit.edu	37	6	28093491	28093491	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:28093491G>C	uc003nkm.2	+	2	370	c.270G>C	c.(268-270)CTG>CTC	p.L90L	uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Silent_p.L90L	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	90	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						AACAGTTCCTGAGCATTCTTC	0.522		NaN											0	0	0	0.00308	0	8	91				
TNXB	7148	broad.mit.edu	37	6	32014187	32014187	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32014187C>T	uc003nzl.2	-	31	10567	c.10365G>A	c.(10363-10365)GTG>GTA	p.V3455V	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3502	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCTCCTCAGCCACGGTCAGTT	0.632		NaN											0	0	0	0.004482	0	7	20				
PPT2	9374	broad.mit.edu	37	6	32130348	32130348	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32130348C>G	uc003nzx.2	+	8	1282	c.714C>G	c.(712-714)TTC>TTG	p.F238L	PPT2_uc003nzw.2_Missense_Mutation_p.F244L|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.F238L|PPT2_uc003oaa.2_Missense_Mutation_p.F238L|PPT2_uc010jtu.1_Missense_Mutation_p.F238L|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	238					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						TTTGTAGCTTCTTTGGTTTCT	0.373		NaN											0	0	0	0.00361	0	71	234				
TAP2	6891	broad.mit.edu	37	6	32800587	32800587	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32800587C>A	uc003occ.2	-	5	991	c.960G>T	c.(958-960)GAG>GAT	p.E320D	TAP2_uc011dqf.1_Missense_Mutation_p.E320D|TAP2_uc003ocb.1_Missense_Mutation_p.E320D|TAP2_uc003ocd.2_Missense_Mutation_p.E320D	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	320	Involved in peptide-binding site.|ABC transmembrane type-1.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CATCCTGGATCTCCCGAAGCA	0.612		NaN											1	0	0.00448238	0.004482	0.00455872	7	33				
RGL2	5863	broad.mit.edu	37	6	33261395	33261395	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:33261395G>C	uc003odv.2	-	14	1723	c.1590C>G	c.(1588-1590)ATC>ATG	p.I530M	RGL2_uc003odu.2_Missense_Mutation_p.I90M|RGL2_uc010jur.2_Missense_Mutation_p.I90M|RGL2_uc003odw.2_Missense_Mutation_p.I448M|RGL2_uc011drb.1_3'UTR	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	530					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						TCCACTGCGAGATGACCAATG	0.572		NaN											0	0	0	0.001855	0	10	40				
FKBP5	2289	broad.mit.edu	37	6	35565137	35565137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35565137C>G	uc011dte.1	-	6	756	c.553G>C	c.(553-555)GAT>CAT	p.D185H	FKBP5_uc003okx.2_Missense_Mutation_p.D185H|FKBP5_uc011dtf.1_Missense_Mutation_p.D6H|FKBP5_uc003oky.2_Missense_Mutation_p.D185H|FKBP5_uc003okz.2_Missense_Mutation_p.D185H	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	185	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						AATGCCACATCTCTGCAGTCA	0.488		NaN											0	0	0	0.004482	0	9	98				
LHFPL5	222662	broad.mit.edu	37	6	35773576	35773576	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35773576C>G	uc003olg.1	+	1	506	c.129C>G	c.(127-129)CTC>CTG	p.L43L		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	43	Helical; (Potential).					integral to membrane				skin(1)	1						TCATGGCCCTCTTCATCCAGC	0.592		NaN											0	0	0	0.006999	0	35	115				
CDKN1A	1026	broad.mit.edu	37	6	36652284	36652284	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:36652284G>C	uc003omm.3	+	2	528	c.406G>C	c.(406-408)GAC>CAC	p.D136H	CDKN1A_uc011dtq.1_Missense_Mutation_p.D170H|CDKN1A_uc003oml.2_Missense_Mutation_p.D136H|CDKN1A_uc003omn.2_Missense_Mutation_p.D136H	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	136					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGGACCTGGAGACTCTCAGGG	0.587		NaN							Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.009096	0	4	33		Valid		
RSPH9	221421	broad.mit.edu	37	6	43624433	43624433	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:43624433G>A	uc003ovw.1	+	4	669	c.643G>A	c.(643-645)GAC>AAC	p.D215N	RSPH9_uc003ovx.1_Missense_Mutation_p.D200N	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	215					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						GGATTTCATGGACTCCTTGGA	0.517		NaN							Kartagener_syndrome				0	0	0	0.000978	0	10	434				
HSP90AB1	3326	broad.mit.edu	37	6	44216498	44216498	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:44216498C>G	uc003oxa.1	+	2	216	c.132C>G	c.(130-132)ATC>ATG	p.I44M	HSP90AB1_uc011dvr.1_Missense_Mutation_p.I44M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I44M|HSP90AB1_uc011dvs.1_Translation_Start_Site|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	44					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAGTTGATCTCTAATGCTT	0.433		NaN											0	0	0	0.001855	0	12	363				
HCRTR2	3062	broad.mit.edu	37	6	55120033	55120033	+	Missense_Mutation	SNP	C	C	T	rs141639071	by1000genomes	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:55120033C>T	uc003pcl.2	+	3	817	c.502C>T	c.(502-504)CGG>TGG	p.R168W	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103W	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	168	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(1)		ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACAGCAAAGCGGGCCCGTAA	0.517		NaN											0	0	0	0.001168	0	5	72				
MYO6	4646	broad.mit.edu	37	6	76623906	76623906	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:76623906A>C	uc003pih.1	+	34	3845	c.3566A>C	c.(3565-3567)AAA>ACA	p.K1189T	MYO6_uc003pii.1_Missense_Mutation_p.K1166T|MYO6_uc003pij.1_Missense_Mutation_p.K137T	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1198					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAGTAAGAAAAAAGGCTGG	0.532		NaN											0	0	0	0.003163	0	15	176				
L3MBTL3	84456	broad.mit.edu	37	6	130413972	130413972	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130413972C>G	uc003qbt.2	+	17	1771	c.1601C>G	c.(1600-1602)TCA>TGA	p.S534*	L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.S509*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	534	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGCTGGTGTTCAAAAACAGGA	0.408		NaN											0	0	0	0.00333	0	23	110				
TMEM200A	114801	broad.mit.edu	37	6	130762701	130762701	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130762701C>G	uc003qca.2	+	3	2005	c.1134C>G	c.(1132-1134)GCC>GCG	p.A378A	TMEM200A_uc010kfh.2_Silent_p.A378A|TMEM200A_uc010kfi.2_Silent_p.A378A|TMEM200A_uc003qcb.2_Silent_p.A378A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	378	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGGGCTGCCAGAAGACAGT	0.522		NaN											0	0	0	0.001855	0	13	74				
NUP43	348995	broad.mit.edu	37	6	150067104	150067104	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:150067104C>G	uc003qmz.2	-	2	272	c.215G>C	c.(214-216)AGA>ACA	p.R72T	NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.R72T	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	72	WD 2.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACCATGGTGTCTGATATCACA	0.368		NaN											0	0	0	0.002096	0	31	160				
SYNE1	23345	broad.mit.edu	37	6	152563519	152563519	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152563519C>G	uc010kiw.2	-	107	20351	c.19749G>C	c.(19747-19749)CAG>CAC	p.Q6583H	SYNE1_uc010kiv.2_Missense_Mutation_p.Q1107H|SYNE1_uc003qos.3_Missense_Mutation_p.Q1107H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6512H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6583H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6583	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTAAGGTTCTGATTCAGAC	0.473		NaN								HNSCC(10;0.0054)			0	0	0	0.005443	0	29	120				
SYNE1	23345	broad.mit.edu	37	6	152771879	152771879	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152771879G>A	uc010kiw.2	-	27	3878	c.3276C>T	c.(3274-3276)GAC>GAT	p.D1092D	SYNE1_uc003qot.3_Silent_p.D1099D|SYNE1_uc003qou.3_Silent_p.D1092D|SYNE1_uc010kjb.1_Silent_p.D1075D|SYNE1_uc003qow.2_Silent_p.D387D|SYNE1_uc003qox.1_Silent_p.D608D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1092	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTTACTGGGTCCCGCACTG	0.493		NaN								HNSCC(10;0.0054)			0	0	0	0.006214	0	8	263				
CYP2W1	54905	broad.mit.edu	37	7	1024674	1024674	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:1024674G>A	uc003sjq.1	+	3	439	c.426G>A	c.(424-426)CCG>CCA	p.P142P	CYP2W1_uc003sjr.1_Silent_p.P142P	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	142					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGGGAGCCGGTGGCTGACA	0.677		NaN											0	0	0	0.007413	0	14	16				
CHST12	55501	broad.mit.edu	37	7	2472655	2472655	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:2472655G>C	uc003smc.2	+	2	516	c.381G>C	c.(379-381)GTG>GTC	p.V127V	CHST12_uc003smd.2_Silent_p.V127V	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	127	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGAGGAGCGTGCTGCGGGGCT	0.706		NaN											0	0	0	0.003163	0	16	45				
DAGLB	221955	broad.mit.edu	37	7	6461401	6461401	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:6461401A>T	uc003sqa.2	-	9	1345	c.1175T>A	c.(1174-1176)GTG>GAG	p.V392E	DAGLB_uc003spz.2_Missense_Mutation_p.V89E|DAGLB_uc011jwt.1_Missense_Mutation_p.V206E|DAGLB_uc011jwu.1_Missense_Mutation_p.V263E|DAGLB_uc003sqb.2_Missense_Mutation_p.V111E|DAGLB_uc003sqc.2_Missense_Mutation_p.V111E|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V351E|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	392	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CACGTCCAGCACCTCACTCTC	0.587		NaN											0	0	0	0.001168	0	6	20				
HDAC9	9734	broad.mit.edu	37	7	18975441	18975441	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:18975441A>T	uc003suh.2	+	22	2845	c.2804A>T	c.(2803-2805)CAT>CTT	p.H935L	HDAC9_uc003sue.2_Missense_Mutation_p.H935L|HDAC9_uc003sui.2_Missense_Mutation_p.H938L|HDAC9_uc003suj.2_Missense_Mutation_p.H894L|HDAC9_uc003suk.2_Missense_Mutation_p.H183L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	935	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTTTTGGTCATTTGACGAAG	0.353		NaN											0	0	0	0.00361	0	60	112				
GARS	2617	broad.mit.edu	37	7	30673444	30673444	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:30673444G>C	uc003tbm.2	+	17	2545	c.2188G>C	c.(2188-2190)GAG>CAG	p.E730Q		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	730					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	TGAAGGGCAAGAGACTGGTAA	0.428		NaN											0	0	0	0.001855	0	12	55				
PDE1C	5137	broad.mit.edu	37	7	31793151	31793151	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:31793151C>T	uc003tcm.1	-	18	2446	c.1977G>A	c.(1975-1977)TTG>TTA	p.L659L	PDE1C_uc003tcn.1_Silent_p.L659L|PDE1C_uc003tco.1_Silent_p.L719L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TAAAATGACGCAAAGGAGGCT	0.483		NaN											0	0	0	0.006999	0	42	37				
BBS9	27241	broad.mit.edu	37	7	33384191	33384191	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:33384191A>T	uc003tdn.1	+	12	1789	c.1276_splice	c.e12-2	p.Q426_splice	BBS9_uc003tdo.1_Splice_Site_p.Q426_splice|BBS9_uc003tdp.1_Splice_Site_p.Q426_splice|BBS9_uc003tdq.1_Splice_Site_p.Q426_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_5'Flank|BBS9_uc011kao.1_Splice_Site_p.Q304_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			CTGTGTTTACAGCAAGCGACC	0.388		NaN							Bardet-Biedl_syndrome				0	0	0	0.00632	0	26	94				
INHBA	3624	broad.mit.edu	37	7	41739709	41739709	+	Silent	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:41739709T>C	uc003thq.2	-	1	499	c.264A>G	c.(262-264)AGA>AGG	p.R88R	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.R88R|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	88					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						CATGAAGCTTTCTGATCGCGT	0.522		NaN								TSP Lung(11;0.080)			0	0	0	0.008871	0	18	482				
URGCP	55665	broad.mit.edu	37	7	43917868	43917868	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:43917868C>G	uc003tiw.2	-	6	1251	c.1194G>C	c.(1192-1194)CTG>CTC	p.L398L	URGCP_uc003tiu.2_Silent_p.L355L|URGCP_uc003tiv.2_Silent_p.L323L|URGCP_uc003tix.2_Silent_p.L389L|URGCP_uc003tiy.2_Silent_p.L355L|URGCP_uc003tiz.2_Silent_p.L355L|URGCP_uc011kbj.1_Silent_p.L355L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	398					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TCAGAAATCTCAGGTTTGTGT	0.448		NaN											0	0	0	0.006214	0	8	210				
ABCB4	5244	broad.mit.edu	37	7	87032471	87032471	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:87032471G>C	uc003uiv.1	-	27	3710	c.3634C>G	c.(3634-3636)CTG>GTG	p.L1212V	ABCB4_uc003uiw.1_Missense_Mutation_p.L1205V|ABCB4_uc003uix.1_Missense_Mutation_p.L1158V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1212	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCAGTATCCAGAGCTGATGTA	0.433		NaN											0	0	0	0.005524	0	39	233				
SAMD9	54809	broad.mit.edu	37	7	92732369	92732369	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:92732369C>T	uc003umf.2	-	3	3298	c.3042G>A	c.(3040-3042)GAG>GAA	p.E1014E	SAMD9_uc003umg.2_Silent_p.E1014E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1014						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAACAAATTCTCAGTTAGCA	0.373		NaN											0	0	0	0.00361	0	72	86				
TRRAP	8295	broad.mit.edu	37	7	98547739	98547739	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98547739G>C	uc003upp.2	+	37	5376	c.5167G>C	c.(5167-5169)GGT>CGT	p.G1723R	TRRAP_uc011kis.1_Missense_Mutation_p.G1705R|TRRAP_uc003upr.2_Missense_Mutation_p.G1422R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1723					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTTTACTGGTCGTTTTCT	0.413		NaN											0	0	0	0.008291	0	10	201				
TRRAP	8295	broad.mit.edu	37	7	98588176	98588176	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98588176G>T	uc003upp.2	+	63	9911	c.9702G>T	c.(9700-9702)TGG>TGT	p.W3234C	TRRAP_uc011kis.1_Missense_Mutation_p.W3205C|TRRAP_uc003upr.2_Missense_Mutation_p.W2922C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3234	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGGCCTGGATCCCACAGC	0.552		NaN											1	0	1.33834e-09	0.007413	1.44929e-09	12	68				
DNAJB9	4189	broad.mit.edu	37	7	108212184	108212184	+	Missense_Mutation	SNP	A	A	C	rs78948360		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:108212184A>C	uc003vfn.2	+	2	216	c.14A>C	c.(13-15)CAG>CCG	p.Q5P	THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	5					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0						GCTACTCCCCAGTCAATTTTC	0.318		NaN											0	0	0	0.007413	0	13	85				
FOXP2	93986	broad.mit.edu	37	7	114299626	114299626	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:114299626G>C	uc003vhb.2	+	13	1920	c.1546_splice	c.e13-1	p.A516_splice	FOXP2_uc003vgu.2_Splice_Site|FOXP2_uc003vgz.2_Splice_Site_p.A541_splice|FOXP2_uc003vha.2_Splice_Site_p.A424_splice|FOXP2_uc011kmu.1_Splice_Site_p.A533_splice|FOXP2_uc011kmv.1_Splice_Site_p.A515_splice|FOXP2_uc010ljz.1_Splice_Site_p.A331_splice|FOXP2_uc003vhe.1_Splice_Site_p.A86_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TCTCATTTCAGGCTATCATGG	0.363		NaN											0	0	0	0.003163	0	14	130				
LMOD2	442721	broad.mit.edu	37	7	123302335	123302335	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:123302335T>C	uc003vky.2	+	2	852	c.695T>C	c.(694-696)TTT>TCT	p.F232S		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	232						cytoskeleton	actin binding|tropomyosin binding				0						CTTACCCGCTTTGCTGAAGCC	0.488		NaN											0	0	0	0.001168	0	5	21				
FAM40B	57464	broad.mit.edu	37	7	129110495	129110495	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:129110495C>G	uc011koy.1	+	18	1923	c.1883C>G	c.(1882-1884)TCA>TGA	p.S628*	FAM40B_uc003vow.2_Nonsense_Mutation_p.S628*|FAM40B_uc011koz.1_Nonsense_Mutation_p.S120*	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	628											0						TACAGCATCTCAGTCCTGGAT	0.463		NaN											0	0	0	0.009096	0	4	42				
AKR1B15	441282	broad.mit.edu	37	7	134261766	134261766	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:134261766A>G	uc011kpr.1	+	10	1176	c.877A>G	c.(877-879)ATG>GTG	p.M293V	AKR1B15_uc011kps.1_Missense_Mutation_p.M265V	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	293	NADP (By similarity).						oxidoreductase activity			ovary(1)	1						CCCCAAGTCTATGACACCAGC	0.517		NaN											0	0	0	0.001168	0	5	120				
TAS2R60	338398	broad.mit.edu	37	7	143141091	143141091	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:143141091C>T	uc011ktg.1	+	1	546	c.546C>T	c.(544-546)GGC>GGT	p.G182G	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	182	Extracellular (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					ATGTCACTGGCGATAGCATAC	0.408		NaN											0	0	0	0.008291	0	11	226				
CLN8	2055	broad.mit.edu	37	8	1728460	1728460	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:1728460G>A	uc003wpo.3	+	3	893	c.588G>A	c.(586-588)CTG>CTA	p.L196L		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	196	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACCAGTGGCTGATGATTCACA	0.517		NaN											0	0	0	0.007413	0	19	54				
MCPH1	79648	broad.mit.edu	37	8	6312749	6312749	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:6312749G>C	uc003wqi.2	+	9	1979	c.1911G>C	c.(1909-1911)TTG>TTC	p.L637F		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	637						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGAGGAATTGAAGAAAAGTG	0.368		NaN											0	0	0	0.002299	0	24	106				
C8orf74	203076	broad.mit.edu	37	8	10555323	10555323	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:10555323G>A	uc003wtd.1	+	3	485	c.456G>A	c.(454-456)CCG>CCA	p.P152P	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	152											0				COAD - Colon adenocarcinoma(149;0.0811)		ATCCCCTCCCGCTGGCCGAGG	0.652		NaN											0	0	0	0.008871	0	17	36				
UNC5D	137970	broad.mit.edu	37	8	35541109	35541109	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:35541109C>T	uc003xjr.1	+	5	943	c.615C>T	c.(613-615)GAC>GAT	p.D205D	UNC5D_uc003xjs.1_Silent_p.D200D|UNC5D_uc003xjt.1_Translation_Start_Site	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	205	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGAACAAGACGAGAACATTG	0.463		NaN											0	0	0	0.009096	0	3	27				
ADAM2	2515	broad.mit.edu	37	8	39604118	39604118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:39604118T>A	uc003xnj.2	-	19	2122	c.2047A>T	c.(2047-2049)AAA>TAA	p.K683*	ADAM2_uc003xnk.2_Nonsense_Mutation_p.K664*|ADAM2_uc011lck.1_Nonsense_Mutation_p.K620*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.K527*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	683	Extracellular (Potential).				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCATTGGTTTGGAATGGTAA	0.294		NaN											0	0	0	0.00499	0	17	106				
CHRNB3	1142	broad.mit.edu	37	8	42585836	42585836	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:42585836C>A	uc003xpi.1	+	4	477	c.349C>A	c.(349-351)CTC>ATC	p.L117I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	117	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACATAGTTCTCTTTGAAAA	0.299		NaN											1	0	9.31168e-06	0.001855	9.80424e-06	14	34				
EFCAB1	79645	broad.mit.edu	37	8	49642408	49642408	+	Missense_Mutation	SNP	C	C	G	rs145734570	byFrequency	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:49642408C>G	uc003xqo.2	-	4	502	c.342G>C	c.(340-342)TTG>TTC	p.L114F	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.L62F|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	114	2 (Potential).|EF-hand 2.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CGTCACCATTCAAATCAAACA	0.348		NaN											0	0	0	0.000602	0	5	56				
TGS1	96764	broad.mit.edu	37	8	56698335	56698335	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56698335A>T	uc003xsj.3	+	3	611	c.224A>T	c.(223-225)CAT>CTT	p.H75L	TGS1_uc010lyh.2_5'UTR	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	75					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCAGAATCACATGACAGCAAA	0.413		NaN											0	0	0	0.009535	0	31	55				
TGS1	96764	broad.mit.edu	37	8	56715061	56715061	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56715061A>C	uc003xsj.3	+	9	2282	c.1895A>C	c.(1894-1896)AAT>ACT	p.N632T	TGS1_uc010lyh.2_Missense_Mutation_p.N536T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	632	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			aaaaagGTGAATGGTCTGCCT	0.338		NaN											0	0	0	0.008291	0	11	49				
OSR2	116039	broad.mit.edu	37	8	99961627	99961627	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:99961627C>A	uc003yir.2	+	2	982	c.447C>A	c.(445-447)GGC>GGA	p.G149G	OSR2_uc010mbn.2_Silent_p.G149G|OSR2_uc003yiq.2_Silent_p.G149G|OSR2_uc011lgx.1_Silent_p.G270G	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	149					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCATCTCGGGCCTCAGTAAAT	0.532		NaN											1	0	0.00316338	0.003163	0.0032251	14	218				
ATP6V1C1	528	broad.mit.edu	37	8	104054610	104054610	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:104054610G>C	uc003ykz.3	+	3	420	c.175G>C	c.(175-177)GCT>CCT	p.A59P	ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.A59P|ATP6V1C1_uc011lhl.1_Intron	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	59					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGATGAACTGGCTAAACTGGA	0.368		NaN											0	0	0	0.004482	0	8	192				
PKHD1L1	93035	broad.mit.edu	37	8	110412320	110412320	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:110412320A>G	uc003yne.2	+	13	1132	c.1028A>G	c.(1027-1029)AAG>AGG	p.K343R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	343	Extracellular (Potential).|IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAGGCCTGAAGCTTGAGGTG	0.408		NaN								HNSCC(38;0.096)			0	0	0	0.001168	0	6	172				
CSMD3	114788	broad.mit.edu	37	8	113358347	113358347	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:113358347T>G	uc003ynu.2	-	41	6580	c.6421A>C	c.(6421-6423)ATA>CTA	p.I2141L	CSMD3_uc003yns.2_Missense_Mutation_p.I1343L|CSMD3_uc003ynt.2_Missense_Mutation_p.I2101L|CSMD3_uc011lhx.1_Missense_Mutation_p.I2037L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2141	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTAGATTTATTGTCCATGTG	0.383		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.00361	0	45	167				
TRPS1	7227	broad.mit.edu	37	8	116599614	116599614	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:116599614G>C	uc003ynz.2	-	4	2734	c.2275C>G	c.(2275-2277)CCA>GCA	p.P759A	TRPS1_uc011lhy.1_Missense_Mutation_p.P763A|TRPS1_uc003yny.2_Missense_Mutation_p.P772A|TRPS1_uc010mcy.2_Missense_Mutation_p.P759A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	759	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCAGAAACTGGCTCTCCCATT	0.493		NaN							Langer-Giedion_syndrome				0	0	0	0.004878	0	35	439				
HSF1	3297	broad.mit.edu	37	8	145535686	145535686	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145535686G>C	uc003zbt.3	+	9	1068	c.898G>C	c.(898-900)GAG>CAG	p.E300Q	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	300	Regulatory domain.			E->A: Derepression of transcriptional activity at control temperature by 11%.		cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCAAGGAGGAGCCCCCCAG	0.701		NaN											0	0	0	0.000602	0	5	13				
KIFC2	90990	broad.mit.edu	37	8	145693255	145693255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145693255C>G	uc003zcz.2	+	7	760	c.695C>G	c.(694-696)TCA>TGA	p.S232*	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	232	Potential.|Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGACGGACTCAGAGAAAAGG	0.667		NaN									OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	59				
ZNF16	7564	broad.mit.edu	37	8	146157055	146157055	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:146157055C>A	uc003zet.2	-	4	1305	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	ZNF16_uc003zeu.2_Missense_Mutation_p.G373V	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGGCTTCTCTCCTGTGTGAGT	0.532		NaN											1	0	0.00909568	0.009096	0.00918356	4	115				
MLLT3	4300	broad.mit.edu	37	9	20620762	20620762	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:20620762G>A	uc003zoe.2	-	2	343	c.84C>T	c.(82-84)TTC>TTT	p.F28F	MLLT3_uc011lne.1_5'UTR|MLLT3_uc011lnf.1_Silent_p.F25F|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	28	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AGTCGTGGGTGAAGCCCTCCA	0.602		NaN	T	MLL	ALL								0	0	0	0.00333	0	21	119				
ZCCHC7	84186	broad.mit.edu	37	9	37126516	37126516	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:37126516G>C	uc003zzq.2	+	2	360	c.187G>C	c.(187-189)GAA>CAA	p.E63Q	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.E62Q|ZCCHC7_uc010mlt.2_Missense_Mutation_p.E62Q|ZCCHC7_uc003zzs.1_Missense_Mutation_p.E62Q	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	63							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TGGGAATTCGGAATCTTCGAG	0.423		NaN											0	0	0	0.006214	0	10	226				
VPS13A	23230	broad.mit.edu	37	9	79890500	79890500	+	Silent	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:79890500A>C	uc004akr.2	+	25	2859	c.2599A>C	c.(2599-2601)AGA>CGA	p.R867R	VPS13A_uc004akp.3_Silent_p.R867R|VPS13A_uc004akq.3_Silent_p.R867R|VPS13A_uc004aks.2_Silent_p.R867R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	867					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TATTCGAACCAGAAAGTTACA	0.348		NaN											0	0	0	0.00632	0	30	170				
CEP78	84131	broad.mit.edu	37	9	80881397	80881397	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:80881397C>G	uc004akx.2	+	15	2113	c.1837C>G	c.(1837-1839)CTC>GTC	p.L613V	CEP78_uc004aky.3_Missense_Mutation_p.L630V|CEP78_uc010mpp.2_Missense_Mutation_p.L614V|CEP78_uc004akz.1_Missense_Mutation_p.L101V	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	613					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.L613L(1)		ovary(1)	1						TCCTTTGCCTCTCGACTCCTT	0.428		NaN											0	0	0	0.004482	0	8	62				
FLJ46321	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:84608089A>G	uc004amn.2	+	4	2751	c.2704A>G	c.(2704-2706)ATG>GTG	p.M902V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	902						integral to membrane					0						CAAACAAAAGATGTTGGAAGC	0.433		NaN											0	0	0	0.000602	0	4	63				
PTCH1	5727	broad.mit.edu	37	9	98239043	98239043	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:98239043C>G	uc004avk.3	-	11	1788	c.1600G>C	c.(1600-1602)GAG>CAG	p.E534Q	PTCH1_uc010mro.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E383Q|PTCH1_uc004avl.3_Missense_Mutation_p.E383Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E468Q|PTCH1_uc004avm.3_Missense_Mutation_p.E533Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E202Q	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	534	SSD.|Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGCATTACCTCAAAAGGGATT	0.423		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.000602	0	4	23				
EPB41L4B	54566	broad.mit.edu	37	9	112018480	112018480	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112018480G>C	uc004bdz.1	-	9	1160	c.865C>G	c.(865-867)CTT>GTT	p.L289V	EPB41L4B_uc004bea.2_Missense_Mutation_p.L289V	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	289	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCAGTCCAAGAGAATATTCA	0.368		NaN											0	0	0	0.002836	0	30	159				
PTPN3	5774	broad.mit.edu	37	9	112185044	112185044	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112185044C>G	uc004bed.2	-	13	1202	c.1090G>C	c.(1090-1092)GAA>CAA	p.E364Q	PTPN3_uc004beb.2_Missense_Mutation_p.E233Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.E77Q|PTPN3_uc011lwf.1_Intron	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	364					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CTCTTGGTTTCTAAGTGCTCC	0.448		NaN											0	0	0	0.001168	0	5	212				
SVEP1	79987	broad.mit.edu	37	9	113198707	113198707	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:113198707A>T	uc010mtz.2	-	28	5054	c.4717T>A	c.(4717-4719)TCC>ACC	p.S1573T		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1573	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGCTTATGGAGCCCACAAAA	0.473		NaN											0	0	0	0.009096	0	4	104				
DFNB31	25861	broad.mit.edu	37	9	117240927	117240927	+	Missense_Mutation	SNP	G	G	A	rs141863996		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:117240927G>A	uc004biz.3	-	2	1392	c.743C>T	c.(742-744)TCG>TTG	p.S248L	DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.S248L|DFNB31_uc004bjb.2_Missense_Mutation_p.S248L	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	248					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGCAGGCCCGAGGGTGGGGA	0.662		NaN											0	0	0	0.008291	0	7	11				
PAPPA	5069	broad.mit.edu	37	9	118949701	118949701	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:118949701C>G	uc004bjn.2	+	2	1065	c.684C>G	c.(682-684)TTC>TTG	p.F228L	PAPPA_uc011lxp.1_Missense_Mutation_p.F21L|PAPPA_uc011lxq.1_Missense_Mutation_p.F21L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	228					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GTGGCATATTCAGCCCACTGA	0.547		NaN											0	0	0	0.003163	0	16	60				
C5	727	broad.mit.edu	37	9	123716141	123716141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:123716141C>T	uc004bkv.2	-	40	4798	c.4768G>A	c.(4768-4770)GCT>ACT	p.A1590T		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1590	NTR.				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAGCAACAGCTTCCCCTGAG	0.383		NaN											0	0	0	0.00278	0	21	100				
CIZ1	25792	broad.mit.edu	37	9	130940682	130940682	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:130940682C>G	uc004btt.2	-	9	1749	c.1586G>C	c.(1585-1587)GGA>GCA	p.G529A	CIZ1_uc004btr.2_Missense_Mutation_p.G501A|CIZ1_uc004bts.2_Missense_Mutation_p.G500A|CIZ1_uc011maq.1_Missense_Mutation_p.G468A|CIZ1_uc004btu.2_Missense_Mutation_p.G449A|CIZ1_uc011mar.1_Missense_Mutation_p.G428A|CIZ1_uc011mas.1_Missense_Mutation_p.G559A|CIZ1_uc004btw.2_Missense_Mutation_p.G473A|CIZ1_uc004btv.2_Missense_Mutation_p.G529A	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	529						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						TTCACATTCTCCCACATCTAG	0.562		NaN											0	0	0	0.00499	0	13	168				
LAMC3	10319	broad.mit.edu	37	9	133927972	133927972	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:133927972G>C	uc004caa.1	+	10	1823	c.1725G>C	c.(1723-1725)CTG>CTC	p.L575L		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	575	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTACAGCTGAGGCTGGAAG	0.642		NaN									OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00499	0	12	53				
SETX	23064	broad.mit.edu	37	9	135204838	135204838	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135204838T>C	uc004cbk.2	-	10	2330	c.2147A>G	c.(2146-2148)AAA>AGA	p.K716R	SETX_uc004cbj.2_Missense_Mutation_p.K335R|SETX_uc010mzt.2_Missense_Mutation_p.K335R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	716					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAGATCTCTTTTACAGACTT	0.363		NaN											0	0	0	0.00361	0	66	173				
C9orf98	158067	broad.mit.edu	37	9	135601228	135601228	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135601228G>C	uc004cbu.1	-	13	1843	c.1287C>G	c.(1285-1287)GTC>GTG	p.V429V	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.V225V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	429	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		TTTTCAGCTTGACCTGCTCTT	0.552		NaN											0	0	0	0.004672	0	3	10				
C9orf98	158067	broad.mit.edu	37	9	135702366	135702366	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135702366G>C	uc004cbu.1	-	8	1188	c.632C>G	c.(631-633)TCA>TGA	p.S211*	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Nonsense_Mutation_p.S7*	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	211						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		CTCCAGCTCTGAGATGTCCTC	0.502		NaN											0	0	0	0.001168	0	5	287				
FAM166A	401565	broad.mit.edu	37	9	140139656	140139656	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139656C>G	uc004cmi.1	-	4	592	c.537G>C	c.(535-537)CAG>CAC	p.Q179H		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	179										ovary(1)	1						ACTCATCCCTCTGGCAGTGGT	0.667		NaN											0	0	0	0.001168	0	4	45				
FAM166A	401565	broad.mit.edu	37	9	140139944	140139944	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139944C>G	uc004cmi.1	-	3	392	c.337G>C	c.(337-339)GAG>CAG	p.E113Q		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	113										ovary(1)	1						CCTGGCGGCTCCTGGGCGTCC	0.627		NaN											0	0	0	0.004007	0	14	91				
CACNA1B	774	broad.mit.edu	37	9	140907677	140907677	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140907677T>G	uc004cog.2	+	18	2402	c.2257T>G	c.(2257-2259)TCC>GCC	p.S753A	CACNA1B_uc011mfd.1_Missense_Mutation_p.S284A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	753	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGCGAACATCTCCATCGCCGC	0.602		NaN											0	0	0	0.006214	0	7	26				
TLR8	51311	broad.mit.edu	37	X	12939592	12939592	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:12939592G>A	uc004cve.2	+	2	2501	c.2433G>A	c.(2431-2433)GGG>GGA	p.G811G	TLR8_uc004cvd.2_Silent_p.G829G	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	811	Extracellular (Potential).|LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATCAAAGAGGGAAGAGTATTG	0.418		NaN											0	0	0	0.002096	0	30	186				
BMX	660	broad.mit.edu	37	X	15534291	15534291	+	Missense_Mutation	SNP	G	G	T	rs67912403		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:15534291G>T	uc004cww.2	+	5	570	c.382G>T	c.(382-384)GGG>TGG	p.G128W	BMX_uc004cwx.3_Missense_Mutation_p.G128W|BMX_uc004cwy.3_Missense_Mutation_p.G128W	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	128	Btk-type.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					CTTCGTGGACGGGAAGTTCCT	0.517		NaN											1	0	4.3838e-07	0.001855	4.65083e-07	12	306				
FAM48B1	100130302	broad.mit.edu	37	X	24383471	24383471	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:24383471C>G	uc011mjx.1	+	1	2594	c.2594C>G	c.(2593-2595)CCA>CGA	p.P865R		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CAGCCACATCCAGGTGTGCAA	0.542		NaN											0	0	0	0.003163	0	14	84				
TSPAN7	7102	broad.mit.edu	37	X	38534989	38534989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:38534989A>T	uc004deg.3	+	5	541	c.472A>T	c.(472-474)AAC>TAC	p.N158Y	TSPAN7_uc011mkj.1_Missense_Mutation_p.N184Y|TSPAN7_uc011mkk.1_Missense_Mutation_p.N175Y|TSPAN7_uc004deh.2_Missense_Mutation_p.N66Y	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	158	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GAACTACACCAACTGGAGCAC	0.483		NaN											0	0	0	0.002299	0	23	50				
CXorf38	159013	broad.mit.edu	37	X	40496396	40496396	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:40496396G>A	uc004dew.2	-	4	489	c.484C>T	c.(484-486)CGT>TGT	p.R162C	CXorf38_uc011mko.1_Missense_Mutation_p.R77C|CXorf38_uc004dev.1_Missense_Mutation_p.R43C|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	162										ovary(1)	1						ATCTCATTACGACATTTAATT	0.338		NaN											0	0	0	0.001168	0	5	91				
HDAC6	10013	broad.mit.edu	37	X	48666514	48666514	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:48666514G>T	uc011mmi.1	+	9	802	c.707G>T	c.(706-708)CGC>CTC	p.R236L	HDAC6_uc004dks.1_Missense_Mutation_p.R236L|HDAC6_uc010nig.1_Missense_Mutation_p.R84L|HDAC6_uc004dkt.1_Missense_Mutation_p.R236L|HDAC6_uc011mmj.1_Missense_Mutation_p.R181L|HDAC6_uc011mmk.1_Missense_Mutation_p.R217L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	236	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GTGGCAGCCCGCTATGCTCAA	0.582		NaN											1	0	0.000274275	0.004482	0.000283079	5	10				
PAGE1	8712	broad.mit.edu	37	X	49454135	49454135	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:49454135C>T	uc004dom.2	-	5	437	c.304G>A	c.(304-306)GAA>AAA	p.E102K		NM_003785	NP_003776	O75459	GAGB1_HUMAN	P antigen family, member 1	102					cellular defense response					skin(1)	1	Ovarian(276;0.236)					CTATCCGCTTCAGGCTCTGGC	0.338		NaN											0	0	0	0.003755	0	29	72				
TRO	7216	broad.mit.edu	37	X	54949137	54949137	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:54949137A>G	uc004dtq.2	+	3	279	c.172A>G	c.(172-174)ATG>GTG	p.M58V	TRO_uc011moj.1_Missense_Mutation_p.M1V|TRO_uc004dts.2_Missense_Mutation_p.M58V|TRO_uc004dtr.2_Missense_Mutation_p.M58V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	58					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CTCCCTGGCCATGGACCCACC	0.557		NaN											0	0	0	0.00499	0	17	22				
TAF1	6872	broad.mit.edu	37	X	70601652	70601652	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:70601652G>C	uc004dzu.3	+	9	1468	c.1417G>C	c.(1417-1419)GAG>CAG	p.E473Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E494Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	473					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CATTGACAATGAGGATCTGGT	0.453		NaN											0	0	0	0.001168	0	5	216				
PAK3	5063	broad.mit.edu	37	X	110435399	110435399	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:110435399A>G	uc004epa.2	+	9	947	c.920A>G	c.(919-921)CAA>CGA	p.Q307R	PAK3_uc010npt.1_Missense_Mutation_p.Q292R|PAK3_uc010npu.1_Missense_Mutation_p.Q292R|PAK3_uc004eoy.1_Missense_Mutation_p.Q47R|PAK3_uc004eoz.2_Missense_Mutation_p.Q292R|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.Q328R|PAK3_uc010npw.1_Missense_Mutation_p.Q313R	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	307	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GCAACAGGACAAGAGGTAAGT	0.333		NaN								TSP Lung(19;0.15)			0	0	0	0.001984	0	7	173				
MCTS1	28985	broad.mit.edu	37	X	119742109	119742109	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:119742109G>C	uc004esx.2	+	4	640	c.292G>C	c.(292-294)GAT>CAT	p.D98H	MCTS1_uc011mub.1_Missense_Mutation_p.D99H	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	98	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						CCAGCAGGTTGATAAAGGAGC	0.308		NaN											0	0	0	0.001368	0	12	101				
FAM127B	26071	broad.mit.edu	37	X	134185976	134185976	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:134185976C>T	uc004eyf.2	-	1	246	c.163G>A	c.(163-165)GAG>AAG	p.E55K	FAM127B_uc004eyg.3_Missense_Mutation_p.E55K	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	55											0	Acute lymphoblastic leukemia(192;0.000127)					AACGTGTTCTCGTCCACGAAC	0.597		NaN											0	0	0	0.001168	0	6	90				
GPR112	139378	broad.mit.edu	37	X	135429691	135429691	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:135429691G>C	uc004ezu.1	+	6	4117	c.3826G>C	c.(3826-3828)GAA>CAA	p.E1276Q	GPR112_uc010nsb.1_Missense_Mutation_p.E1071Q|GPR112_uc010nsc.1_Missense_Mutation_p.E1043Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1276	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGACAGAAATGTCCCC	0.438		NaN											0	0	0	0.00361	0	59	117				
GPR101	83550	broad.mit.edu	37	X	136112838	136112838	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:136112838C>A	uc011mwh.1	-	1	996	c.996G>T	c.(994-996)ATG>ATT	p.M332I		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	332	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGCCTTCATGCTGTTCT	0.557		NaN											1	0	4.44401e-20	0.002522	4.94042e-20	46	304				
F9	2158	broad.mit.edu	37	X	138612920	138612920	+	Translation_Start_Site	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:138612920G>T	uc004fas.1	+	1	26	c.-3G>T	c.(-5--1)AAGGT>AATGT		F9_uc004fat.1_Translation_Start_Site	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGCTAGCAAAGGTTATGCAGC	0.433		NaN											1	0	2.0095e-06	0.001984	2.12114e-06	6	128				
MAGEA6	4105	broad.mit.edu	37	X	151870004	151870004	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:151870004G>C	uc004ffq.1	+	3	888	c.694G>C	c.(694-696)GAG>CAG	p.E232Q	MAGEA6_uc004ffr.1_Missense_Mutation_p.E232Q|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	232	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGTTTGAGGGGAGGGA	0.537		NaN											0	0	0	0.00361	0	76	203				
L1CAM	3897	broad.mit.edu	37	X	153128148	153128148	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:153128148G>A	uc004fjb.2	-	28	3852	c.3744C>T	c.(3742-3744)TCC>TCT	p.S1248S	L1CAM_uc004fjc.2_Silent_p.S1244S|L1CAM_uc010nuo.2_Silent_p.S1239S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1248	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGATGGGGGAAGTGGCCC	0.607		NaN											0	0	0	0.009096	0	4	59				
MTCP1NB	100272147	broad.mit.edu	37	X	154292253	154292253	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:154292253T>G	uc004fmy.2	-	2	635	c.46A>C	c.(46-48)AAA>CAA	p.K16Q		NM_001018024	NP_001018024	P56277	MTCNB_HUMAN	mature T-cell proliferation 1 neighbor	16					cell proliferation	mitochondrion				lung(1)	1						TGTAAACATTTCTGTATCTCA	0.299		NaN											0	0	0	0.010504	0	21	285				
CCDC27	148870	broad.mit.edu	37	1	3669321	3669321	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:3669321C>G	uc001akv.2	+	1	357	c.276C>G	c.(274-276)CTC>CTG	p.L92L		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	92										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CACGCACGCTCAGCAAGTCGG	0.637		NaN											0	0	0	0.002836	0	31	23				
KIAA0090	23065	broad.mit.edu	37	1	19549914	19549914	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:19549914G>A	uc001bbo.2	-	19	2395	c.2352C>T	c.(2350-2352)ATC>ATT	p.I784I	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	784	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CTGAATGCACGATATGGACAG	0.537		NaN											0	0	0	0.00361	0	86	163				
PTP4A2	8073	broad.mit.edu	37	1	32384631	32384631	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:32384631C>G	uc001bty.1	-	2	1030	c.36G>C	c.(34-36)GAG>GAC	p.E12D	PTP4A2_uc010ogs.1_Missense_Mutation_p.E12D|PTP4A2_uc001btz.1_Missense_Mutation_p.E12D	NM_080391	NP_536316	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	12						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity				0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				AACGCATGTTCTCATAGGAGA	0.413		NaN											0	0	0	0.003271	0	34	42				
MACF1	23499	broad.mit.edu	37	1	39550081	39550081	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:39550081C>T	uc010ois.1	+	3	396	c.191C>T	c.(190-192)CCT>CTT	p.P64L	MACF1_uc010oir.1_Silent_p.L60L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	64	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCTGGACCCTGCAGAGCGT	0.632		NaN											0	0	0	0.008871	0	19	20				
SSBP3	23648	broad.mit.edu	37	1	54867580	54867580	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:54867580C>G	uc001cxe.2	-	4	528	c.230G>C	c.(229-231)AGA>ACA	p.R77T	SSBP3_uc001cxf.2_Missense_Mutation_p.R77T|SSBP3_uc001cxg.2_Missense_Mutation_p.R77T	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						ACAAGTGTCTCTCCTTTCAGG	0.368		NaN											0	0	0	0.00361	0	42	57				
ABCD3	5825	broad.mit.edu	37	1	94964399	94964399	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:94964399C>G	uc001dqn.3	+	18	1627	c.1525C>G	c.(1525-1527)CCT>GCT	p.P509A	ABCD3_uc010oto.1_Missense_Mutation_p.P533A|ABCD3_uc010otp.1_Missense_Mutation_p.P436A|ABCD3_uc009wdr.2_Missense_Mutation_p.P399A|ABCD3_uc001dqo.3_Missense_Mutation_p.P197A	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	509	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTTTATGTTCCTCAGGTAAG	0.318		NaN											0	0	0	0.00623	0	38	42				
AGL	178	broad.mit.edu	37	1	100366410	100366410	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:100366410G>A	uc001dsi.1	+	26	3981	c.3581G>A	c.(3580-3582)GGC>GAC	p.G1194D	AGL_uc001dsj.1_Missense_Mutation_p.G1194D|AGL_uc001dsk.1_Missense_Mutation_p.G1194D|AGL_uc001dsl.1_Missense_Mutation_p.G1194D|AGL_uc001dsm.1_Missense_Mutation_p.G1178D|AGL_uc001dsn.1_Missense_Mutation_p.G1177D	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1194	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCCTGCTGGCACACTGGTA	0.318		NaN											0	0	0	0.000248	0	4	144				
ANP32E	81611	broad.mit.edu	37	1	150198965	150198965	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:150198965G>A	uc001etw.2	-	5	1026	c.656C>T	c.(655-657)TCA>TTA	p.S219L	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.S171L|ANP32E_uc010pbv.1_Missense_Mutation_p.S178L|ANP32E_uc001etv.3_Missense_Mutation_p.S219L|ANP32E_uc010pbw.1_Missense_Mutation_p.H164Y	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	219	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTAAGTATGAGAGGCCCAC	0.274		NaN											0	0	0	0.00361	0	43	52				
CRTC2	200186	broad.mit.edu	37	1	153921728	153921728	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:153921728G>C	uc010ped.1	-	12	1607	c.1537C>G	c.(1537-1539)CAG>GAG	p.Q513E	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.Q49E	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	513					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAACAAGACTGAGAGGGCAGC	0.617		NaN											0	0	0	0.002522	0	45	45				
YY1AP1	55249	broad.mit.edu	37	1	155629952	155629952	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:155629952C>G	uc001fln.2	-	11	1911	c.1887G>C	c.(1885-1887)CAG>CAC	p.Q629H	YY1AP1_uc001flg.2_Missense_Mutation_p.Q368H|YY1AP1_uc010pgg.1_Missense_Mutation_p.Q468H|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q572H|YY1AP1_uc010pgi.1_Missense_Mutation_p.Q721H|YY1AP1_uc001flh.2_Missense_Mutation_p.Q701H|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flk.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fll.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqv.2_Missense_Mutation_p.Q300H|YY1AP1_uc001flm.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fli.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqu.2_Missense_Mutation_p.Q416H|YY1AP1_uc001flj.2_Missense_Mutation_p.Q563H|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flo.2_Missense_Mutation_p.Q517H|YY1AP1_uc001flp.2_Missense_Mutation_p.Q583H	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	629					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCTGGGGACTCTGGGCCACAG	0.542		NaN											0	0	0	0.00361	0	48	44				
HMCN1	83872	broad.mit.edu	37	1	186034488	186034488	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:186034488C>T	uc001grq.1	+	49	7861	c.7632C>T	c.(7630-7632)CAC>CAT	p.H2544H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2544	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGGTGCCACACACTGGAAGAT	0.458		NaN											0	0	0	0.000248	0	4	34				
HMCN1	83872	broad.mit.edu	37	1	186062644	186062644	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:186062644G>C	uc001grq.1	+	66	10268	c.10039G>C	c.(10039-10041)GAT>CAT	p.D3347H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3347	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGGTAATAAAGATGAAGCAGA	0.383		NaN											0	0	0	0.00361	0	62	62				
CR2	1380	broad.mit.edu	37	1	207647168	207647168	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:207647168G>C	uc001hfw.2	+	11	2095	c.2001G>C	c.(1999-2001)CAG>CAC	p.Q667H	CR2_uc001hfv.2_Missense_Mutation_p.Q726H|CR2_uc009xch.2_Missense_Mutation_p.Q667H	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	667	Sushi 11.|Extracellular (Potential).			Q -> D (in Ref. 10; AA sequence).	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						ATGTGAGACAGAGTCTTCAAG	0.418		NaN											0	0	0	0.00361	0	66	71				
CD34	947	broad.mit.edu	37	1	208061201	208061201	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:208061201G>A	uc001hgw.1	-	8	1298	c.1040C>T	c.(1039-1041)CCT>CTT	p.P347L	CD34_uc001hgv.1_Missense_Mutation_p.P189L|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.P212L	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	347	Cytoplasmic (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						CTGAGCCTCAGGGGAGGTCCC	0.557		NaN											0	0	0	0.001786	0	32	26				
CENPF	1063	broad.mit.edu	37	1	214826232	214826232	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:214826232C>T	uc001hkm.2	+	16	8396	c.8222C>T	c.(8221-8223)TCA>TTA	p.S2741L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2837	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTCTCAGTTCACAGAAGCTG	0.328		NaN											0	0	0	0.00623	0	40	39				
C1orf58	148362	broad.mit.edu	37	1	222902115	222902115	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:222902115A>G	uc001hnq.1	+	9	1096	c.701A>G	c.(700-702)TAT>TGT	p.Y234C	C1orf58_uc010put.1_Missense_Mutation_p.Y202C|C1orf58_uc010puu.1_Missense_Mutation_p.Y234C|C1orf58_uc010puv.1_Missense_Mutation_p.Y202C|uc001hnr.1_RNA	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	234	BRO1.					membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		GAGCCTGCATATTCTGCCAAA	0.318		NaN											0	0	0	0.00278	0	22	25				
MTR	4548	broad.mit.edu	37	1	237060354	237060354	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:237060354C>G	uc001hyi.3	+	32	4070	c.3647C>G	c.(3646-3648)TCA>TGA	p.S1216*	MTR_uc010pxw.1_Nonsense_Mutation_p.S809*|MTR_uc010pxx.1_Nonsense_Mutation_p.S1165*|MTR_uc010pxy.1_Nonsense_Mutation_p.S1070*	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1216	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAGCAGTCTCAGGCCTCTAC	0.403		NaN											0	0	0	0.00361	0	103	115				
RYR2	6262	broad.mit.edu	37	1	237949319	237949319	+	Silent	SNP	T	T	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:237949319T>A	uc001hyl.1	+	91	13431	c.13311T>A	c.(13309-13311)TCT>TCA	p.S4437S	RYR2_uc010pya.1_Silent_p.S852S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4437	Potential.|Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			aaACCAAATCTGAACCTGAAA	0.338		NaN											0	0	0	0.006214	0	10	5				
HNRNPU	3192	broad.mit.edu	37	1	245018742	245018742	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:245018742C>G	uc001iaz.1	-	12	2554	c.2336G>C	c.(2335-2337)AGA>ACA	p.R779T	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.R503T|HNRNPU_uc001iba.1_Missense_Mutation_p.R760T	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	779	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GTAGTTCCCTCTGTTGGGCAT	0.478		NaN											0	0	0	0.00361	0	99	163				
NLRP3	114548	broad.mit.edu	37	1	247607346	247607346	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:247607346C>G	uc001icr.2	+	9	2880	c.2742C>G	c.(2740-2742)CTC>CTG	p.L914L	NLRP3_uc001ics.2_Silent_p.L857L|NLRP3_uc001icu.2_Silent_p.L914L|NLRP3_uc001icw.2_Silent_p.L857L|NLRP3_uc001icv.2_Silent_p.L800L|NLRP3_uc010pyw.1_Silent_p.L892L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	914	LRR 7.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCAGAATCTCACGCACCTTT	0.517		NaN											0	0	0	0.003271	0	34	31				
MSRB2	22921	broad.mit.edu	37	10	23399191	23399191	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:23399191G>T	uc001iro.2	+	3	351	c.240G>T	c.(238-240)CTG>CTT	p.L80L		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2 precursor	80					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)	GGATCTACCTGAATAACAAGG	0.428		NaN											1	0	2.4624e-09	0.008871	2.8746e-09	20	22				
GAD2	2572	broad.mit.edu	37	10	26559631	26559631	+	Silent	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:26559631C>A	uc001isp.2	+	10	1541	c.1038C>A	c.(1036-1038)CCC>CCA	p.P346P	GAD2_uc001isq.2_Silent_p.P346P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	346					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CATTTGACCCCCTCTTAGCTG	0.488		NaN											1	0	2.65773e-34	0.00361	3.20136e-34	80	69				
KIF5B	3799	broad.mit.edu	37	10	32311875	32311875	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:32311875C>T	uc001iwe.3	-	16	2285	c.1815G>A	c.(1813-1815)GTG>GTA	p.V605V		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	605					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TGCAACGTTTCACCATGGTTT	0.403		NaN											0	0	0	0.001523	0	22	31				
RTKN2	219790	broad.mit.edu	37	10	63978015	63978015	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:63978015C>G	uc001jlw.2	-	8	924	c.827G>C	c.(826-828)CGA>CCA	p.R276P	RTKN2_uc009xpf.1_Missense_Mutation_p.R57P	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	276					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGCAACTAGTCGGCAGCACAT	0.368		NaN											0	0	0	0.002852	0	41	50				
UNC5B	219699	broad.mit.edu	37	10	73053303	73053303	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:73053303G>C	uc001jro.2	+	12	2359	c.1914G>C	c.(1912-1914)AAG>AAC	p.K638N	UNC5B_uc001jrp.2_Missense_Mutation_p.K627N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	638	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TTCAGCTCAAGACCCAGGCCC	0.637		NaN											0	0	0	0.003271	0	32	48				
CDHR1	92211	broad.mit.edu	37	10	85973981	85973981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:85973981G>C	uc001kcv.2	+	17	2184	c.2184G>C	c.(2182-2184)AAG>AAC	p.K728N	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.K432N|CDHR1_uc001kcx.2_Missense_Mutation_p.K42N	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	728	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GGCGCAACAAGAAGTCTAACA	0.642		NaN											0	0	0	0.00361	0	42	35				
NOC3L	64318	broad.mit.edu	37	10	96106204	96106204	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:96106204G>C	uc001kjq.1	-	11	1455	c.1367C>G	c.(1366-1368)TCT>TGT	p.S456C	NOC3L_uc009xuk.1_Missense_Mutation_p.S241C	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	456	Potential.					nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TCTTGATAGAGATTTTCTCTT	0.269		NaN											0	0	0	0.007413	0	18	41				
CRTAC1	55118	broad.mit.edu	37	10	99664461	99664461	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:99664461G>C	uc001kou.1	-	7	1317	c.961C>G	c.(961-963)CTG>GTG	p.L321V	CRTAC1_uc001kov.2_Missense_Mutation_p.L310V|CRTAC1_uc001kot.1_Missense_Mutation_p.L111V	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	321	FG-GAP 3; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATTTGCAGATAGAGGCGG	0.473		NaN											0	0	0	0.00361	0	52	78				
PPRC1	23082	broad.mit.edu	37	10	103897653	103897653	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:103897653C>T	uc001kum.2	+	2	239	c.200C>T	c.(199-201)TCT>TTT	p.S67F	PPRC1_uc001kun.2_5'UTR|PPRC1_uc010qqj.1_Missense_Mutation_p.S67F|PPRC1_uc009xxa.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGTCTCTCTCGGCTGGGC	0.562		NaN											0	0	0	0.001523	0	21	26				
PSD	5662	broad.mit.edu	37	10	104173719	104173719	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:104173719C>T	uc001kvg.1	-	5	1887	c.1360G>A	c.(1360-1362)GAC>AAC	p.D454N	PSD_uc001kvh.1_Missense_Mutation_p.D75N|PSD_uc009xxd.1_Missense_Mutation_p.D454N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	454	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGGTGGGTCGGGCCGGGGT	0.662		NaN											0	0	0	0.00361	0	47	32				
SIGIRR	59307	broad.mit.edu	37	11	407866	407866	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:407866G>C	uc001lpd.2	-	5	762	c.432C>G	c.(430-432)CTC>CTG	p.L144L	SIGIRR_uc001lpf.2_Silent_p.L144L|SIGIRR_uc001lpe.1_Silent_p.L144L|SIGIRR_uc001lpg.2_Silent_p.L144L	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	144	Cytoplasmic (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCACGTTGAGACGGCACT	0.687		NaN											0	0	0	0.00361	0	55	3				
OR8J3	81168	broad.mit.edu	37	11	55905037	55905037	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:55905037G>C	uc010riz.1	-	1	158	c.158C>G	c.(157-159)TCT>TGT	p.S53C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TTGAAGTCGAGAGTCAACACT	0.473		NaN											0	0	0	0.00361	0	94	96				
SLC36A4	120103	broad.mit.edu	37	11	92916047	92916047	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:92916047C>G	uc001pdn.2	-	4	381	c.284G>C	c.(283-285)AGC>ACC	p.S95T	SLC36A4_uc001pdm.2_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	95	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACACAAGGCTGATTGGTCC	0.328		NaN											0	0	0	0.00361	0	51	57				
EI24	9538	broad.mit.edu	37	11	125448904	125448904	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:125448904C>T	uc001qca.2	+	7	743	c.501C>T	c.(499-501)GTC>GTT	p.V167V	EI24_uc001qcb.2_Silent_p.V167V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V167V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V153V|EI24_uc010sbf.1_RNA	NM_004879	NP_004870	O14681	EI24_HUMAN	etoposide induced 2.4 isoform 1	167					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCCCTAGTGTCAGCAAAATAA	0.443		NaN											0	0	0	0.00308	0	5	1				
KCNJ5	3762	broad.mit.edu	37	11	128782060	128782060	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:128782060G>C	uc001qet.2	+	2	1206	c.892G>C	c.(892-894)GAG>CAG	p.E298Q	KCNJ5_uc009zck.2_Missense_Mutation_p.E298Q|KCNJ5_uc001qew.2_Missense_Mutation_p.E298Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	298	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCATCAGGAAGAGTTTGAAGT	0.527		NaN											0	0	0	0.00361	0	49	4				
STYK1	55359	broad.mit.edu	37	12	10772796	10772796	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:10772796C>T	uc001qys.2	-	11	1737	c.1216G>A	c.(1216-1218)GCT>ACT	p.A406T		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	406						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						CCGGCCACAGCTGCATACAGT	0.483		NaN								HNSCC(73;0.22)			0	0	0	0.00361	0	123	130				
PDE3A	5139	broad.mit.edu	37	12	20774241	20774241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:20774241G>A	uc001reh.1	+	5	1458	c.1436G>A	c.(1435-1437)TGG>TAG	p.W479*		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	479					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCTGATTCTTGGAATAATCCA	0.378		NaN											0	0	0	0.001368	0	13	19				
SOX5	6660	broad.mit.edu	37	12	23893927	23893927	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:23893927C>G	uc001rfw.2	-	5	717	c.615G>C	c.(613-615)ATG>ATC	p.M205I	SOX5_uc001rfx.2_Missense_Mutation_p.M192I|SOX5_uc001rfy.2_Missense_Mutation_p.M192I|SOX5_uc010siv.1_Missense_Mutation_p.M192I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.M157I	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	205	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GCTGGTTGATCATACCCATGA	0.438		NaN											0	0	0	0.001786	0	31	36				
TENC1	23371	broad.mit.edu	37	12	53454002	53454002	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:53454002G>A	uc001sbp.2	+	18	2712	c.2577G>A	c.(2575-2577)TTG>TTA	p.L859L	TENC1_uc001sbl.2_Silent_p.L735L|TENC1_uc001sbn.2_Silent_p.L869L|TENC1_uc001sbq.2_Intron|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.L354L|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	859	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						GGTACCCATTGCCTGGGCACC	0.637		NaN											0	0	0	0.004482	0	7	7				
ESYT1	23344	broad.mit.edu	37	12	56536837	56536837	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:56536837C>G	uc001sjq.2	+	28	3074	c.3024C>G	c.(3022-3024)CCC>CCG	p.P1008P	ESYT1_uc001sjr.2_Silent_p.P1018P	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1008	C2 5.					integral to membrane				ovary(4)|skin(1)	5						CTCCTGATCCCTATGTGTCAC	0.522		NaN											0	0	0	0.00361	0	75	85				
HCFC2	29915	broad.mit.edu	37	12	104476336	104476336	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:104476336C>T	uc001tkj.3	+	6	929	c.826C>T	c.(826-828)CAT>TAT	p.H276Y	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	276	Kelch 4.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						GACTTCACCTCATGATTGTGA	0.333		NaN											0	0	0	0.002299	0	21	38				
RNF10	9921	broad.mit.edu	37	12	121001667	121001667	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:121001667G>T	uc001typ.3	+	10	2069	c.1586G>T	c.(1585-1587)CGG>CTG	p.R529L	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R440L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	529					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCTCGTGCGGGAGTACGGC	0.572		NaN											1	0	5.41795e-27	0.00361	6.49664e-27	78	111				
TMEM132D	121256	broad.mit.edu	37	12	130185145	130185145	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:130185145A>T	uc009zyl.1	-	2	506	c.178T>A	c.(178-180)TTC>ATC	p.F60I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	60	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCAGGAAGAAGGAGACGTCC	0.552		NaN											0	0	0	0.006999	0	41	40				
STOML3	161003	broad.mit.edu	37	13	39544479	39544479	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:39544479T>A	uc001uwx.2	-	5	497	c.359A>T	c.(358-360)TAT>TTT	p.Y120F	STOML3_uc010tez.1_Missense_Mutation_p.Y111F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	120	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATTCTGTAATAGACAACTCC	0.433		NaN											0	0	0	0.00361	0	69	86				
THSD1	55901	broad.mit.edu	37	13	52952521	52952521	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:52952521G>A	uc001vgo.2	-	5	2129	c.1584C>T	c.(1582-1584)TTC>TTT	p.F528F	THSD1_uc001vgp.2_Silent_p.F475F|THSD1_uc010tgz.1_Silent_p.F149F|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	528	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCGGTAGCTGAACAGAGGTG	0.552		NaN											0	0	0	0.001168	0	5	256				
RBM26	64062	broad.mit.edu	37	13	79916956	79916956	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:79916956G>C	uc001vkz.2	-	17	2290	c.2276C>G	c.(2275-2277)TCA>TGA	p.S759*	RBM26_uc001vky.2_Nonsense_Mutation_p.S730*|RBM26_uc001vla.2_Nonsense_Mutation_p.S733*|RBM26_uc010tia.1_Nonsense_Mutation_p.S114*|RBM26_uc001vkx.2_Nonsense_Mutation_p.S469*	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	757	Potential.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCCAGTTTTGAAATTAACAT	0.244		NaN											0	0	0	0.00278	0	19	42				
PRMT5	10419	broad.mit.edu	37	14	23398498	23398498	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:23398498C>T	uc001whm.1	-	1	164	c.73G>A	c.(73-75)GAA>AAA	p.E25K	PRMT5_uc001whl.1_5'UTR|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tng.1_5'UTR|PRMT5_uc010tnh.1_Missense_Mutation_p.E25K|PRMT5_uc001whn.1_5'UTR	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	25					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCAGCTATTTCGGGGACGCAA	0.682		NaN											0	0	0	0.007413	0	19	18				
ACIN1	22985	broad.mit.edu	37	14	23533388	23533388	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:23533388C>G	uc001wit.3	-	12	3023	c.2695G>C	c.(2695-2697)GAG>CAG	p.E899Q	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.E141Q|ACIN1_uc001wiq.3_Missense_Mutation_p.E141Q|ACIN1_uc001wir.3_Missense_Mutation_p.E172Q|ACIN1_uc001wis.3_Missense_Mutation_p.E580Q|ACIN1_uc010akg.2_Missense_Mutation_p.E886Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	899					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCTCATCCTCAGAGATGCGA	0.567		NaN											0	0	0	0.002222	0	44	64				
NIN	51199	broad.mit.edu	37	14	51259486	51259486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:51259486C>A	uc001wym.2	-	5	570	c.379G>T	c.(379-381)GAG>TAG	p.E127*	NIN_uc001wyi.2_Nonsense_Mutation_p.E127*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E127*|NIN_uc010tqp.1_Nonsense_Mutation_p.E133*|NIN_uc001wyo.2_Nonsense_Mutation_p.E127*|NIN_uc001wyp.1_Nonsense_Mutation_p.E89*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	127					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCAGTGGCTCAATCACCGTC	0.547		NaN	T	PDGFRB	MPD								1	0	4.62619e-21	0.004289	5.49749e-21	35	50				
FLVCR2	55640	broad.mit.edu	37	14	76045321	76045321	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:76045321G>A	uc001xrs.2	+	1	382	c.6G>A	c.(4-6)GTG>GTA	p.V2V		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	2					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGCGATGGTGAATGAAGGTC	0.597		NaN									OREG0022816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001786	0	27	43				
TDP1	55775	broad.mit.edu	37	14	90455360	90455360	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:90455360G>C	uc001xxy.2	+	11	1542	c.1243G>C	c.(1243-1245)GAG>CAG	p.E415Q	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.E415Q|TDP1_uc010atn.2_Missense_Mutation_p.E415Q|TDP1_uc001xya.2_Missense_Mutation_p.E176Q|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.E415Q|TDP1_uc001xyd.1_Missense_Mutation_p.E30Q	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	415					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTTATGTTCTGAGTTTAAAGA	0.493		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.002445	0	32	39				
MOAP1	64112	broad.mit.edu	37	14	93650050	93650050	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:93650050C>T	uc001ybj.2	-	3	908	c.538G>A	c.(538-540)GAA>AAA	p.E180K	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	180				EEE->AAA: No effect on RASSF1-binding; interacts with BAX in the absence of RASSF1.	activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		cgtccaaattcttcttctcct	0		NaN											0	0	0	0.00361	0	49	47				
OR4N4	283694	broad.mit.edu	37	15	22382961	22382961	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:22382961C>T	uc001yuc.1	+	7	1470	c.489C>T	c.(487-489)ATC>ATT	p.I163I	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.I163I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGTCCTCATCCTCCGCTTGC	0.522		NaN											0	0	0	0.00361	0	55	235				
ARHGAP11A	9824	broad.mit.edu	37	15	32928484	32928484	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:32928484G>A	uc001zgy.1	+	12	2232	c.1510G>A	c.(1510-1512)GAA>AAA	p.E504K	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.E315K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.E315K	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	504					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TAAGTCTGAGGAAACCTTACT	0.368		NaN											0	0	0	0.002096	0	30	26				
CATSPER2	117155	broad.mit.edu	37	15	43939559	43939559	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:43939559C>T	uc001zsh.2	-	3	467	c.252G>A	c.(250-252)TTG>TTA	p.L84L	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L84L|CATSPER2_uc001zsj.2_Silent_p.L84L|CATSPER2_uc001zsk.2_Silent_p.L84L|CATSPER2_uc001zsl.1_RNA	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	84	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GAAGCCTGCTCAACAGCCTCT	0.498		NaN											0	0	0	0.00623	0	38	151				
SPG11	80208	broad.mit.edu	37	15	44876629	44876629	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:44876629G>C	uc001ztx.2	-	30	5280	c.5249C>G	c.(5248-5250)TCC>TGC	p.S1750C	SPG11_uc010bdw.2_Missense_Mutation_p.S39C|SPG11_uc010ueh.1_Missense_Mutation_p.S1750C|SPG11_uc010uei.1_Missense_Mutation_p.S1750C|SPG11_uc001zty.1_Missense_Mutation_p.S479C	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1750	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGAAAAAGGAAGAAGCTGC	0.463		NaN											0	0	0	0.002445	0	34	38				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397222	51397222	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:51397222A>G	uc001zyy.2	-	1	252	c.152T>C	c.(151-153)CTT>CCT	p.L51P		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	51											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TCCCCTCTGAAGATGAAAAGA	0.542		NaN											0	0	0	0.003954	0	14	110				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397239	51397240	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:51397239_51397240GA>AT	uc001zyy.2	-	1	234_235	c.134_135TC>AT	c.(133-135)ATC>AAT	p.I45N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	45											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAGATAAGGGGATGAGTCTTGT	0.535		NaN											0	0	0	0.004672	0	14	104				
ADAM10	102	broad.mit.edu	37	15	58932978	58932978	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:58932978G>A	uc002afd.1	-	8	1454	c.1010C>T	c.(1009-1011)TCA>TTA	p.S337L	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S36L|ADAM10_uc002afe.1_RNA	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	337	Peptidase M12B.|Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		TAAACTACCTGAAGGTGCTCC	0.388		NaN											0	0	0	0.001855	0	12	16				
FAM63B	54629	broad.mit.edu	37	15	59139599	59139599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:59139599C>T	uc002afj.2	+	7	1674	c.1472C>T	c.(1471-1473)TCA>TTA	p.S491L	FAM63B_uc002afi.2_Missense_Mutation_p.S491L|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	491										central_nervous_system(1)	1						TTCTGTGACTCAGAATTTCAT	0.393		NaN											0	0	0	0.003271	0	37	30				
HERC1	8925	broad.mit.edu	37	15	63986695	63986695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:63986695G>A	uc002amp.2	-	29	5444	c.5296C>T	c.(5296-5298)CAA>TAA	p.Q1766*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1766					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCTACTGGTTGATAATGAACA	0.423		NaN											0	0	0	0.002836	0	32	31				
SCAPER	49855	broad.mit.edu	37	15	76763592	76763592	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:76763592C>G	uc002bby.2	-	24	3098	c.3039G>C	c.(3037-3039)AAG>AAC	p.K1013N	SCAPER_uc010bkr.2_Missense_Mutation_p.K321N|SCAPER_uc002bbx.2_Missense_Mutation_p.K767N|SCAPER_uc002bbz.1_Missense_Mutation_p.K884N	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1012						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AGAAGGTAATCTTGTTACTAA	0.378		NaN											0	0	0	0.007291	0	27	40				
PKMYT1	9088	broad.mit.edu	37	16	3025757	3025757	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3025757G>A	uc002csn.2	-	4	878	c.435C>T	c.(433-435)TTC>TTT	p.F145F	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.F145F|PKMYT1_uc002cso.2_Silent_p.F76F|PKMYT1_uc002csp.2_Silent_p.F136F|PKMYT1_uc002csq.2_Silent_p.F136F|PKMYT1_uc010bsy.1_Silent_p.F136F	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	145	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						TGGGGCCCCGGAATGGTGACA	0.677		NaN											0	0	0	0.002445	0	33	24				
PKMYT1	9088	broad.mit.edu	37	16	3026840	3026840	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3026840G>T	uc002csn.2	-	3	646	c.203C>A	c.(202-204)CCT>CAT	p.P68H	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P68H|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Missense_Mutation_p.P59H|PKMYT1_uc002csq.2_Missense_Mutation_p.P59H|PKMYT1_uc010bsy.1_Missense_Mutation_p.P59H	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	68	Pro-rich.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						GGTCCGAGGAGGGAAGAGGCG	0.692		NaN											1	0	0.000602214	0.000602	0.000693856	5	4				
PKMYT1	9088	broad.mit.edu	37	16	3026845	3026845	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3026845G>A	uc002csn.2	-	3	641	c.198C>T	c.(196-198)CTC>CTT	p.L66L	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.L66L|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Silent_p.L57L|PKMYT1_uc002csq.2_Silent_p.L57L|PKMYT1_uc010bsy.1_Silent_p.L57L	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	66	Pro-rich.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						GAGGAGGGAAGAGGCGGCTGA	0.687		NaN											0	0	0	0.000248	0	4	4				
BFAR	51283	broad.mit.edu	37	16	14749055	14749055	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:14749055C>T	uc002dco.2	+	5	1052	c.771C>T	c.(769-771)CTC>CTT	p.L257L	BFAR_uc002dcp.2_Silent_p.L132L|BFAR_uc010uzh.1_Silent_p.L129L	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	257	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						CCCAGAATCTCTGGGAATATA	0.328		NaN											0	0	0	0.002222	0	46	53				
QPRT	23475	broad.mit.edu	37	16	29706228	29706228	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:29706228G>A	uc002dto.2	+	2	335	c.257G>A	c.(256-258)AGA>AAA	p.R86K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	86					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)	CCGGTGGCCAGAGTGGCCGAG	0.657		NaN											0	0	0	0.002222	0	40	37				
CETP	1071	broad.mit.edu	37	16	57005235	57005235	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:57005235C>G	uc002eki.2	+	7	657	c.600C>G	c.(598-600)ATC>ATG	p.I200M	CETP_uc002ekj.2_Missense_Mutation_p.I200M	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	200					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						TGCCCCAGATCTGCAAAGAGA	0.577		NaN											0	0	0	0.00361	0	116	137				
NLRC5	84166	broad.mit.edu	37	16	57092020	57092020	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:57092020C>G	uc002ekk.1	+	28	4015	c.3790C>G	c.(3790-3792)CTG>GTG	p.L1264V	NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.L1068V|NLRC5_uc002ekm.2_Missense_Mutation_p.L1038V|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.L179V|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.L151V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1264	LRR 13.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CAGATGCCTTCTGGAATGTCT	0.572		NaN											0	0	0	0.000978	0	10	12				
CMTM1	113540	broad.mit.edu	37	16	66603973	66603973	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:66603973G>A	uc002epi.3	+	2	339	c.216G>A	c.(214-216)CTG>CTA	p.L72L	CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Silent_p.L72L|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Silent_p.L189L|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Silent_p.L189L|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 1	72	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		ACCACTTGCTGACCTATTTAC	0.388		NaN											0	0	0	0.00361	0	76	101				
MTSS1L	92154	broad.mit.edu	37	16	70713737	70713737	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:70713737C>G	uc002ezj.2	-	5	594	c.334G>C	c.(334-336)GAG>CAG	p.E112Q	MTSS1L_uc002ezk.1_Missense_Mutation_p.E32Q	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	112	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						TTCCAGTCCTCGATGCGCTCC	0.602		NaN											0	0	0	0.003163	0	14	10				
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:72821414C>T	uc002fck.2	-	10	11434	c.10761G>A	c.(10759-10761)TCG>TCA	p.S3587S	uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Silent_p.S2673S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3587					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CGGCAGACTGCGAGGTAGATG	0.617		NaN											0	0	0	0.00361	0	64	85				
CHST6	4166	broad.mit.edu	37	16	75512780	75512780	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:75512780C>T	uc002fef.2	-	3	1127	c.947G>A	c.(946-948)CGC>CAC	p.R316H	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R316H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	316	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAAGGCTTCGCGGCGCGCACC	0.627		NaN											0	0	0	0.005524	0	40	46				
ZCCHC14	23174	broad.mit.edu	37	16	87446453	87446453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:87446453G>C	uc002fjz.1	-	12	1490	c.1463C>G	c.(1462-1464)TCA>TGA	p.S488*	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Nonsense_Mutation_p.S264*	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	488					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTGGTGGCCTGATGGATTGGA	0.612		NaN											0	0	0	0.001786	0	33	40				
DPEP1	1800	broad.mit.edu	37	16	89703951	89703951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:89703951C>T	uc010cin.2	+	8	1047	c.844C>T	c.(844-846)CAA>TAA	p.Q282*	DPEP1_uc002fnr.3_Nonsense_Mutation_p.Q282*|DPEP1_uc002fns.3_Nonsense_Mutation_p.Q282*	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	282					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CAACCTGTCCCAAGTGGCCGG	0.577		NaN											0	0	0	0.00361	0	77	65				
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:1478943G>C	uc002fsv.2	-	14	1754	c.1665C>G	c.(1663-1665)CTC>CTG	p.L555L	SLC43A2_uc002fsu.2_Silent_p.L559L	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	555					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617		NaN											0	0	0	0.003163	0	10	1				
ITGAE	3682	broad.mit.edu	37	17	3649140	3649140	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:3649140C>G	uc002fwo.3	-	18	2336	c.2237G>C	c.(2236-2238)AGA>ACA	p.R746T		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	746	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGACAGCTTCTTACGTCTGA	0.587		NaN											0	0	0	0.00361	0	49	6				
ANKFY1	51479	broad.mit.edu	37	17	4080443	4080443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:4080443G>C	uc002fxq.1	-	19	2791	c.2753C>G	c.(2752-2754)TCA>TGA	p.S918*	ANKFY1_uc002fxn.2_Nonsense_Mutation_p.S960*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.S919*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.S917*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.S860*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	918	ANK 17.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						AATAATTTCTGAGCCTGCTTG	0.448		NaN											0	0	0	0.00361	0	45	1				
GPS2	2874	broad.mit.edu	37	17	7216947	7216947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:7216947G>A	uc002gfv.1	-	6	837	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	GPS2_uc002gfw.1_Nonsense_Mutation_p.Q154*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q192*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q192*	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	192					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)				GGTGGGGGCTGAGCAGTCCCA	0.577		NaN									OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	64	5				
ALOX12B	242	broad.mit.edu	37	17	7976526	7976526	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:7976526C>T	uc002gjy.1	-	14	2127	c.1866G>A	c.(1864-1866)GTG>GTA	p.V622V		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	622	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						ACGTGGTCTTCACATCCGGCA	0.622		NaN								Multiple Myeloma(8;0.094)			0	0	0	0.000248	0	4	119				
DNAH9	1770	broad.mit.edu	37	17	11572854	11572854	+	Silent	SNP	G	G	A	rs36016893		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:11572854G>A	uc002gne.2	+	17	3164	c.3096G>A	c.(3094-3096)GGG>GGA	p.G1032G	DNAH9_uc010coo.2_Silent_p.G326G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1032	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGTACGGGCACATCCTCA	0.517		NaN											0	0	0	0.001168	0	4	91				
CPD	1362	broad.mit.edu	37	17	28791803	28791803	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:28791803G>C	uc002hfb.1	+	21	4129	c.4114G>C	c.(4114-4116)GAG>CAG	p.E1372Q	CPD_uc010wbo.1_Missense_Mutation_p.E1125Q|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1372	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AGACACTGAAGAGGAAACATT	0.413		NaN											0	0	0	0.00361	0	57	75				
ATP6V0A1	535	broad.mit.edu	37	17	40618453	40618453	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:40618453C>G	uc002hzr.2	+	3	291	c.124C>G	c.(124-126)CCA>GCA	p.P42A	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P42A|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P42A	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	42	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCAGTTAAATCCAGATGTGAA	0.318		NaN											0	0	0	0.005443	0	26	24				
TLK2	11011	broad.mit.edu	37	17	60598163	60598163	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:60598163G>C	uc010ddp.2	+	3	379	c.111G>C	c.(109-111)CAG>CAC	p.Q37H	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.Q37H|TLK2_uc002jaa.3_Missense_Mutation_p.Q37H|TLK2_uc010wpd.1_Missense_Mutation_p.Q37H	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	37					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						CTTCCAACCAGAGCTTGTGCA	0.343		NaN											0	0	0	0.00361	0	47	110				
CSH1	1442	broad.mit.edu	37	17	61972839	61972839	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:61972839C>T	uc002jcs.1	-	4	566	c.450G>A	c.(448-450)CTG>CTA	p.L150L	CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.L111L|CSH1_uc002jcq.1_Silent_p.L111L|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Silent_p.L116L|CSH1_uc002jcu.1_Silent_p.L150L|CSH1_uc002jcv.1_Intron|CSH1_uc002jcw.2_Silent_p.L150L|CSH1_uc002jcy.2_3'UTR	NM_001317	NP_001308	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 isoform 1	150					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			skin(1)	1						TCACCCCCATCAGCGTTTGGA	0.562		NaN							Russell-Silver_syndrome				0	0	0	0.00361	0	45	91				
HELZ	9931	broad.mit.edu	37	17	65175038	65175038	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:65175038G>A	uc010wqk.1	-	13	1354	c.1167C>T	c.(1165-1167)CTC>CTT	p.L389L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L389L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCAGGTATTCGAGATCTAAAT	0.259		NaN											0	0	0	0.004289	0	37	62				
TRIM65	201292	broad.mit.edu	37	17	73892977	73892977	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:73892977G>A	uc002jpx.2	-	1	78	c.42C>T	c.(40-42)ATC>ATT	p.I14I		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	14	RING-type.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCAGGCAGATGGCGCAGG	0.726		NaN											0	0	0	0.001168	0	5	8				
MIB1	57534	broad.mit.edu	37	18	19345737	19345737	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:19345737C>T	uc002ktq.2	+	2	234	c.234C>T	c.(232-234)ATC>ATT	p.I78I	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	78					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TAATAGGCATCAAGCATGATG	0.363		NaN											0	0	0	0.001786	0	29	38				
MIB1	57534	broad.mit.edu	37	18	19345741	19345741	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:19345741C>G	uc002ktq.2	+	2	238	c.238C>G	c.(238-240)CAT>GAT	p.H80D	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	80	ZZ-type.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			AGGCATCAAGCATGATGGAAC	0.363		NaN											0	0	0	0.003271	0	32	39				
IMPACT	55364	broad.mit.edu	37	18	22025392	22025392	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:22025392G>C	uc002kvh.3	+	8	742	c.630G>C	c.(628-630)AAG>AAC	p.K210N	IMPACT_uc002kvg.3_Missense_Mutation_p.K192N	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	210											0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ATGAGAATAAGAAAATAGCTA	0.308		NaN											0	0	0	0.002836	0	30	47				
BSG	682	broad.mit.edu	37	19	580761	580761	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:580761G>C	uc002loz.2	+	5	869	c.771G>C	c.(769-771)AAG>AAC	p.K257N	BSG_uc002loy.2_Missense_Mutation_p.K77N|BSG_uc002lpa.2_Missense_Mutation_p.K141N|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.K141N|BSG_uc002lpc.2_Missense_Mutation_p.K304N|BSG_uc002lpd.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	257	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTACAAGATCACTGACT	0.612		NaN											0	0	0	0.007413	0	19	38				
MUC16	94025	broad.mit.edu	37	19	9089752	9089752	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:9089752G>A	uc002mkp.2	-	1	2267	c.2063C>T	c.(2062-2064)TCA>TTA	p.S688L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	688	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTGAAAGCTGAGGACTGTAG	0.507		NaN											0	0	0	0.00361	0	58	50				
KRI1	65095	broad.mit.edu	37	19	10668240	10668240	+	Silent	SNP	G	G	A	rs144674130	by1000genomes	TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:10668240G>A	uc002moy.1	-	16	1632	c.1623C>T	c.(1621-1623)CTC>CTT	p.L541L	KRI1_uc002mow.1_Silent_p.L160L|KRI1_uc002mox.1_Silent_p.L537L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	541										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTCAGTGCTGAGGCCAAAGT	0.602		NaN											0	0	0	0.002299	0	23	25				
KRI1	65095	broad.mit.edu	37	19	10668297	10668297	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:10668297G>A	uc002moy.1	-	16	1575	c.1566C>T	c.(1564-1566)ATC>ATT	p.I522I	KRI1_uc002mow.1_Silent_p.I141I|KRI1_uc002mox.1_Silent_p.I518I	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	522										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCAGGTCGTCGATGATGTCCT	0.617		NaN											0	0	0	0.001786	0	27	46				
SPC24	147841	broad.mit.edu	37	19	11258787	11258787	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:11258787G>T	uc002mql.2	-	3	344	c.312C>A	c.(310-312)CTC>CTA	p.L104L		NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN	spindle pole body component 24 homolog	104	Potential.|Interaction with the N-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding				0						GCTCTCTGGTGAGCTGAGTAG	0.607		NaN											1	0	2.0095e-06	0.001984	2.3254e-06	7	18				
ZNF799	90576	broad.mit.edu	37	19	12491855	12491855	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:12491855G>C	uc002mts.3	-	4	687	c.221C>G	c.(220-222)TCT>TGT	p.S74C				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	180	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GTTTCCCAAAGAATTGAAGGA	0.403		NaN											0	0	0	0.00278	0	23	40				
ZNF791	163049	broad.mit.edu	37	19	12739532	12739532	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:12739532C>T	uc002mua.2	+	4	1351	c.1189C>T	c.(1189-1191)CTA>TTA	p.L397L	ZNF791_uc010xml.1_Silent_p.L365L|ZNF791_uc010dyu.1_Silent_p.L288L|ZNF791_uc010xmm.1_Silent_p.L288L	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	397	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAATTATCCTCTAGATTTGAA	0.363		NaN											0	0	0	0.00361	0	48	64				
RAD23A	5886	broad.mit.edu	37	19	13059906	13059906	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:13059906G>A	uc002mvw.1	+	6	721	c.612G>A	c.(610-612)GGG>GGA	p.G204G	RAD23A_uc002mvx.1_Silent_p.G204G|RAD23A_uc002mvz.1_Silent_p.G204G|RAD23A_uc002mwa.1_Silent_p.G204G|RAD23A_uc002mvy.1_Silent_p.G39G|RAD23A_uc010xmw.1_Silent_p.G39G	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	204					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GAATTCCTGGGAGCCCCGAGC	0.637		NaN						NER					0	0	0	0.001984	0	7	8				
ZNF93	81931	broad.mit.edu	37	19	20044762	20044762	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:20044762G>C	uc002non.2	+	4	1109	c.998G>C	c.(997-999)AGA>ACA	p.R333T		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	333	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ACACATAAGAGAATTCATACT	0.378		NaN											0	0	0	0.001786	0	31	10				
ZNF30	90075	broad.mit.edu	37	19	35434903	35434903	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:35434903G>C	uc010edp.1	+	5	1411	c.1033G>C	c.(1033-1035)GAA>CAA	p.E345Q	ZNF30_uc002nxf.2_Missense_Mutation_p.E264Q|ZNF30_uc010edq.1_Missense_Mutation_p.E346Q|ZNF30_uc010edr.1_Missense_Mutation_p.E346Q	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	345	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAAACCTTTTGAATGTAAGGA	0.448		NaN											0	0	0	0.00361	0	54	66				
ZNF461	92283	broad.mit.edu	37	19	37129762	37129762	+	Silent	SNP	T	T	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:37129762T>C	uc002oem.2	-	6	1713	c.1485A>G	c.(1483-1485)AAA>AAG	p.K495K	ZNF461_uc002oen.2_Silent_p.K464K|ZNF461_uc010xtj.1_Silent_p.K472K	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCATAGGGTTTCTCACCAG	0.393		NaN											0	0	0	0.00245	0	15	68				
CATSPERG	57828	broad.mit.edu	37	19	38853103	38853103	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:38853103G>C	uc002oih.3	+	19	2332	c.2245G>C	c.(2245-2247)GAG>CAG	p.E749Q	CATSPERG_uc002oig.3_Missense_Mutation_p.E709Q|CATSPERG_uc002oif.3_Missense_Mutation_p.E389Q|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	749	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CTACAACCTCGAGTCCGCGTA	0.582		NaN											0	0	0	0.003271	0	36	54				
GRLF1	2909	broad.mit.edu	37	19	47423517	47423517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:47423517C>T	uc010ekv.2	+	1	1585	c.1585C>T	c.(1585-1587)CGA>TGA	p.R529*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	529	FF 4.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AGAGGAACAGCGATTTAAAGC	0.443		NaN											0	0	0	0.00361	0	74	102				
SULT2B1	6820	broad.mit.edu	37	19	49090664	49090664	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:49090664C>T	uc002pjl.2	+	3	474	c.393C>T	c.(391-393)TTC>TTT	p.F131F	SULT2B1_uc002pjm.2_Silent_p.F116F	NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCAGATCTTCACCAAGGCCT	0.622		NaN											0	0	0	0.00361	0	47	66				
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:50370414A>G	uc002pqh.2	-	1	100	c.48T>C	c.(46-48)CCT>CCC	p.P16P	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721		NaN						Other_BER_factors					0	0	0	0.001368	0	7	23				
MBOAT7	79143	broad.mit.edu	37	19	54678031	54678031	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:54678031C>T	uc002qdq.2	-	9	1392	c.1126G>A	c.(1126-1128)GAG>AAG	p.E376K	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.E60K|MBOAT7_uc010yem.1_Missense_Mutation_p.E358K|MBOAT7_uc002qdr.2_Missense_Mutation_p.E376K|MBOAT7_uc002qds.2_Missense_Mutation_p.E303K|MBOAT7_uc010yen.1_Missense_Mutation_p.E303K	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	376					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCCGGCCCTCGGCAGCCAGG	0.687		NaN											0	0	0	0.00361	0	62	50				
RNF103	7844	broad.mit.edu	37	2	86832395	86832395	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86832395G>A	uc002srn.2	-	4	1598	c.629C>T	c.(628-630)GCA>GTA	p.A210V	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.A71V|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	210					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						CCGAGAAGCTGCATGAGCAGT	0.343		NaN											0	0	0	0.00361	0	82	75				
RMND5A	64795	broad.mit.edu	37	2	86992169	86992169	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86992169G>A	uc010ytm.1	+	5	918	c.541G>A	c.(541-543)GAA>AAA	p.E181K	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.E181K	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	181	CTLH.			E -> G (in Ref. 1; BAB14257).						ovary(1)|skin(1)	2						GTCAAACCGGGAAATGCTTAT	0.373		NaN											0	0	0	0.007835	0	34	40				
RMND5A	64795	broad.mit.edu	37	2	86992260	86992260	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86992260G>A	uc010ytm.1	+	5	1009	c.632G>A	c.(631-633)CGA>CAA	p.R211Q	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R211Q	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	211										ovary(1)|skin(1)	2						ACAAATCAGCGAGAGGCATTA	0.368		NaN											0	0	0	0.005524	0	38	39				
ANKRD39	51239	broad.mit.edu	37	2	97514175	97514175	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:97514175C>T	uc002sxd.3	-	4	447	c.415G>A	c.(415-417)GAG>AAG	p.E139K		NM_016466	NP_057550	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	139	ANK 4.										0						TGACCCCTCTCAGCAGCCTGT	0.582		NaN											0	0	0	0.00361	0	45	39				
AFF3	3899	broad.mit.edu	37	2	100199373	100199373	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:100199373C>T	uc002tag.2	-	16	2916	c.2680G>A	c.(2680-2682)GAG>AAG	p.E894K	AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	894					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GTTAAGTCCTCGCTGGTGTAT	0.463		NaN											0	0	0	0.003214	0	47	44				
TTN	7273	broad.mit.edu	37	2	179612753	179612753	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:179612753C>A	uc002unb.2	-	46	14598	c.14374G>T	c.(14374-14376)GCA>TCA	p.A4792S	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAATGCTGCCAACTCTGGT	0.458		NaN											1	0	3.73988e-18	0.00632	4.42442e-18	30	29				
CERKL	375298	broad.mit.edu	37	2	182413568	182413568	+	Silent	SNP	G	G	A	rs139270710		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:182413568G>A	uc002unx.2	-	8	1091	c.990C>T	c.(988-990)GTC>GTT	p.V330V	CERKL_uc002uny.2_Silent_p.V304V|CERKL_uc010zfm.1_Silent_p.V286V|CERKL_uc002unz.2_Silent_p.V52V|CERKL_uc002uoa.2_Silent_p.V235V|CERKL_uc002uob.2_Silent_p.V52V|CERKL_uc002uoc.2_Silent_p.V191V|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.V99V|CERKL_uc002uoe.2_Silent_p.V304V|CERKL_uc002unw.2_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	330	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGCAGACGTCGACCAGCTGTA	0.428		NaN											0	0	0	0.003954	0	22	34				
KIF1A	547	broad.mit.edu	37	2	241726723	241726723	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:241726723T>C	uc002vzy.2	-	5	520	c.374A>G	c.(373-375)GAC>GGC	p.D125G	KIF1A_uc010fzk.2_Missense_Mutation_p.D125G|KIF1A_uc002vzz.1_Missense_Mutation_p.D125G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	125	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGAAGAGGTCCTCGCAGAG	0.657		NaN											0	0	0	0.002445	0	31	43				
SLC24A3	57419	broad.mit.edu	37	20	19701741	19701741	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:19701741A>C	uc002wrl.2	+	17	2089	c.1892A>C	c.(1891-1893)AAC>ACC	p.N631T		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	631	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						ACTGAGTTCAACGTGTTCACC	0.582		NaN											0	0	0	0.00361	0	67	72				
ASXL1	171023	broad.mit.edu	37	20	31017811	31017811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:31017811C>T	uc002wxs.2	+	7	1099	c.673C>T	c.(673-675)CAG>TAG	p.Q225*	ASXL1_uc010geb.2_Intron	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	225					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CGAGGTCACCCAGGACCCTGC	0.687		NaN	F|N|Mis		MDS|CMML								0	0	0	0.00333	0	22	17				
RBPJL	11317	broad.mit.edu	37	20	43940948	43940948	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:43940948G>A	uc002xns.2	+	6	604	c.532G>A	c.(532-534)GGC>AGC	p.G178S	RBPJL_uc002xnt.2_Missense_Mutation_p.G178S	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	178					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				gctgcgCGGGGGCCGGGAGCT	0.512		NaN											0	0	0	0.004007	0	16	24				
CSE1L	1434	broad.mit.edu	37	20	47707519	47707519	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707519C>A	uc002xty.2	+	21	2459	c.2325C>A	c.(2323-2325)TTC>TTA	p.F775L	CSE1L_uc010zyg.1_Missense_Mutation_p.F558L|CSE1L_uc010ghx.2_Missense_Mutation_p.F719L|CSE1L_uc010ghy.2_Missense_Mutation_p.F396L|CSE1L_uc010zyh.1_Missense_Mutation_p.F424L	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	775					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTGCTATTCCAGAGACTTC	0.308		NaN											1	0	1.61788e-16	0.002445	1.9055e-16	16	62				
CSE1L	1434	broad.mit.edu	37	20	47707529	47707529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707529C>T	uc002xty.2	+	21	2469	c.2335C>T	c.(2335-2337)CAG>TAG	p.Q779*	CSE1L_uc010zyg.1_Nonsense_Mutation_p.Q562*|CSE1L_uc010ghx.2_Nonsense_Mutation_p.Q723*|CSE1L_uc010ghy.2_Nonsense_Mutation_p.Q400*|CSE1L_uc010zyh.1_Nonsense_Mutation_p.Q428*	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	779					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCAGAGACTTCAGAATTCCAA	0.303		NaN											0	0	0	0.001786	0	20	56				
CSE1L	1434	broad.mit.edu	37	20	47707558	47707558	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707558G>A	uc002xty.2	+	21	2498	c.2364G>A	c.(2362-2364)AAG>AAA	p.K788K	CSE1L_uc010zyg.1_Silent_p.K571K|CSE1L_uc010ghx.2_Silent_p.K732K|CSE1L_uc010ghy.2_Silent_p.K409K|CSE1L_uc010zyh.1_Silent_p.K437K	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	788					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGTTTATCAAGAGTAAGTAAA	0.308		NaN											0	0	0	0.003954	0	12	45				
DSCR3	10311	broad.mit.edu	37	21	38600636	38600636	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr21:38600636G>A	uc002ywf.1	-	7	785	c.546C>T	c.(544-546)CTC>CTT	p.L182L	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Silent_p.L140L|DSCR3_uc010gnl.2_Silent_p.L155L|DSCR3_uc011aeg.1_Silent_p.L105L|DSCR3_uc011aeh.1_Silent_p.L57L	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	182					vacuolar transport	nucleus|retromer complex					0						TTGTTGAGTTGAGATGTCCTC	0.507		NaN											0	0	0	0.001786	0	28	39				
CECR2	27443	broad.mit.edu	37	22	18031822	18031822	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:18031822G>C	uc010gqw.1	+	17	4444	c.4318G>C	c.(4318-4320)GAT>CAT	p.D1440H	CECR2_uc010gqv.1_Missense_Mutation_p.D1298H|CECR2_uc002zml.2_Missense_Mutation_p.D1299H|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1482					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		ACTTCCCCTGGATCAGGTAAG	0.498		NaN											0	0	0	0.003954	0	24	29				
DGCR8	54487	broad.mit.edu	37	22	20073687	20073687	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:20073687C>T	uc002zri.2	+	2	551	c.201C>T	c.(199-201)TTC>TTT	p.F67F	DGCR8_uc010grz.2_Silent_p.F67F|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	67	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					AGGACCCCTTCAACTTCTACG	0.597		NaN											0	0	0	0.00361	0	50	56				
CYTSA	23384	broad.mit.edu	37	22	24717883	24717883	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:24717883C>T	uc002zzw.2	+	5	1242	c.935C>T	c.(934-936)TCT>TTT	p.S312F	CYTSA_uc002zzv.3_Missense_Mutation_p.S312F|CYTSA_uc011ajq.1_Missense_Mutation_p.S312F	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	312					cell cycle|cell division						0						ACTCTGACTTCTTCAGTGGAA	0.478		NaN											0	0	0	0.00361	0	45	56				
CYTSA	23384	broad.mit.edu	37	22	24718351	24718351	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:24718351C>T	uc002zzw.2	+	5	1710	c.1403C>T	c.(1402-1404)TCT>TTT	p.S468F	CYTSA_uc002zzv.3_Missense_Mutation_p.S468F|CYTSA_uc011ajq.1_Missense_Mutation_p.S468F	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	468					cell cycle|cell division						0						TACTTCCGCTCTCTTCTAGAT	0.408		NaN											0	0	0	0.00361	0	65	70				
DEPDC5	9681	broad.mit.edu	37	22	32160960	32160960	+	Splice_Site	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:32160960G>A	uc003als.2	+	5	336	c.194_splice	c.e5-1	p.E65_splice	DEPDC5_uc011als.1_Splice_Site_p.E65_splice|DEPDC5_uc011alu.1_Splice_Site_p.E65_splice|DEPDC5_uc011alv.1_Splice_Site|DEPDC5_uc003alt.2_Splice_Site_p.E65_splice|DEPDC5_uc003alr.1_Splice_Site_p.E65_splice|DEPDC5_uc011alt.1_Splice_Site_p.E65_splice	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1						intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TTCTGTTTTAGAAACTATCAG	0.363		NaN											0	0	0	0.001984	0	6	88				
CNTN6	27255	broad.mit.edu	37	3	1424976	1424976	+	Splice_Site	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:1424976G>C	uc003boz.2	+	19	2669	c.2402_splice	c.e19-1	p.E801_splice	CNTN6_uc011asj.1_Splice_Site_p.E729_splice|CNTN6_uc003bpa.2_Splice_Site_p.E801_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGGATGGTAGAACCTCAACT	0.428		NaN											0	0	0	0.00361	0	91	135				
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:77614213G>A	uc003dpy.3	+	12	2434	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	ROBO2_uc003dpz.2_Silent_p.A601A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.A601A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	597	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498		NaN											0	0	0	0.00361	0	57	70				
RAB7A	7879	broad.mit.edu	37	3	128525358	128525358	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:128525358C>T	uc003eks.1	+	4	556	c.324C>T	c.(322-324)ATC>ATT	p.I108I	RAB7A_uc010hsv.1_Intron|RAB7A_uc003ekt.2_Silent_p.I84I	NM_004637	NP_004628	P51149	RAB7A_HUMAN	RAB7, member RAS oncogene family	108				I -> V (in Ref. 2; AAA86640).	endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.231)		AGTTTCTCATCCAGGCCAGTC	0.458		NaN											0	0	0	0.005524	0	37	42				
IGSF10	285313	broad.mit.edu	37	3	151166216	151166216	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:151166216C>G	uc011bod.1	-	4	1553	c.1553G>C	c.(1552-1554)AGA>ACA	p.R518T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	518	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGGGGCTCTCACTTTACT	0.498		NaN											0	0	0	0.00361	0	103	108				
IGSF10	285313	broad.mit.edu	37	3	151166508	151166508	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:151166508C>G	uc011bod.1	-	4	1261	c.1261G>C	c.(1261-1263)GAT>CAT	p.D421H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	421					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTCTGAGATCTGCCTCTATG	0.438		NaN											0	0	0	0.004289	0	37	35				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.001523	0	16	19		Valid		
RGS12	6002	broad.mit.edu	37	4	3416499	3416499	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:3416499C>T	uc003ggw.2	+	6	3115	c.2211C>T	c.(2209-2211)TTC>TTT	p.F737F	RGS12_uc003ggu.2_Silent_p.F737F|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.F737F|RGS12_uc003ggy.1_Silent_p.F135F|RGS12_uc010ict.1_Silent_p.F89F|RGS12_uc003ggz.2_Silent_p.F89F|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Silent_p.F79F|RGS12_uc003gha.2_Silent_p.F79F|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	737	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAAAGAATTCAGTGAAGAAA	0.413		NaN											0	0	0	0.00361	0	48	169				
WDR1	9948	broad.mit.edu	37	4	10100690	10100690	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:10100690G>A	uc003gmf.2	-	4	586	c.303C>T	c.(301-303)TTC>TTT	p.F101F	WDR1_uc003gmg.2_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	101	WD 2.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TCTTCCCAGCGAAAGGCTGGT	0.577		NaN											0	0	0	0.00361	0	74	75				
HS3ST1	9957	broad.mit.edu	37	4	11401132	11401132	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:11401132C>T	uc003gmq.2	-	2	821	c.498G>A	c.(496-498)CAG>CAA	p.Q166Q		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	166						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						GCTTGTGCTTCTGCATGTGGT	0.587		NaN											0	0	0	0.00361	0	43	53				
SHROOM3	57619	broad.mit.edu	37	4	77675497	77675497	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:77675497G>C	uc011cbx.1	+	7	4814	c.3861G>C	c.(3859-3861)GAG>GAC	p.E1287D	SHROOM3_uc003hkg.2_Missense_Mutation_p.E1065D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1287					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCCAAGAAGAGATGCTGCCGC	0.547		NaN											0	0	0	0.00361	0	81	113				
TIGD2	166815	broad.mit.edu	37	4	90034853	90034853	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:90034853C>G	uc003hsk.2	+	1	886	c.728C>G	c.(727-729)TCA>TGA	p.S243*	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	243	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ACTGACCTTTCAAACCTTCCT	0.423		NaN											0	0	0	0.008361	0	30	32				
MTTP	4547	broad.mit.edu	37	4	100510816	100510816	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:100510816C>G	uc003hvc.3	+	5	666	c.410C>G	c.(409-411)TCA>TGA	p.S137*	MTTP_uc011cej.1_Nonsense_Mutation_p.S164*	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	137	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAGTTCTACTCATATCAAAAT	0.418		NaN											0	0	0	0.007413	0	16	18				
TRPC3	7222	broad.mit.edu	37	4	122831316	122831316	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:122831316G>A	uc003ieg.2	-	6	1859	c.1785C>T	c.(1783-1785)TTC>TTT	p.F595F	TRPC3_uc010inr.2_Silent_p.F467F|TRPC3_uc003ief.2_Silent_p.F522F|TRPC3_uc011cgl.1_Silent_p.F259F	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	510	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TACCATAAGTGAAATACTGTA	0.438		NaN											0	0	0	0.002096	0	31	56				
BBS12	166379	broad.mit.edu	37	4	123664339	123664339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:123664339G>A	uc003ieu.2	+	2	1485	c.1292G>A	c.(1291-1293)CGG>CAG	p.R431Q		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	431					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						AACAGTAAGCGGTTGGTAATC	0.443		NaN							Bardet-Biedl_syndrome				0	0	0	0.00361	0	50	44				
GAB1	2549	broad.mit.edu	37	4	144361407	144361407	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:144361407G>A	uc003ije.2	+	6	1816	c.1457G>A	c.(1456-1458)GGA>GAA	p.G486E	GAB1_uc003ijd.2_Missense_Mutation_p.G486E|GAB1_uc011chq.1_Missense_Mutation_p.G383E	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	486	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					TCCTCATTTGGAATGCAAGTT	0.483		NaN											0	0	0	0.003214	0	47	35				
ZNF827	152485	broad.mit.edu	37	4	146686180	146686180	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:146686180C>G	uc003ikn.2	-	13	3238	c.3190G>C	c.(3190-3192)GAG>CAG	p.E1064Q	ZNF827_uc003ikm.2_Missense_Mutation_p.E1064Q|ZNF827_uc010iox.2_Missense_Mutation_p.E714Q|ZNF827_uc003ikl.2_Missense_Mutation_p.E149Q	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	1064	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TTCTTATGCTCCAGCAGCTGT	0.483		NaN											0	0	0	0.004672	0	3	162				
DDX60	55601	broad.mit.edu	37	4	169196559	169196559	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:169196559C>T	uc003irp.2	-	16	2533	c.2241G>A	c.(2239-2241)TTG>TTA	p.L747L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	747							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCTCGTATCAAATAATGGC	0.403		NaN											0	0	0	0.002096	0	30	26				
GALNT7	51809	broad.mit.edu	37	4	174169341	174169341	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:174169341C>G	uc003isz.3	+	2	420	c.337C>G	c.(337-339)CTC>GTC	p.L113V		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	113	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GAGGCAGTATCTCACATTTAA	0.463		NaN											0	0	0	0.001786	0	32	40				
ASB5	140458	broad.mit.edu	37	4	177143510	177143510	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:177143510C>G	uc003iuq.1	-	3	354	c.338G>C	c.(337-339)GGA>GCA	p.G113A	ASB5_uc003iup.1_Missense_Mutation_p.G60A	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	113	ANK 2.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CACGTGATCTCCAAGGCAGGC	0.423		NaN											0	0	0	0.001786	0	30	31				
FAT1	2195	broad.mit.edu	37	4	187518864	187518864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:187518864G>A	uc003izf.2	-	24	12528	c.12340C>T	c.(12340-12342)CAG>TAG	p.Q4114*	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4114	Extracellular (Potential).|EGF-like 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GAATCACACTGACAAACGGCG	0.428		NaN								HNSCC(5;0.00058)			0	0	0	0.003954	0	23	29				
RASGRF2	5924	broad.mit.edu	37	5	80422929	80422929	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:80422929C>T	uc003kha.1	+	17	2633	c.2633C>T	c.(2632-2634)CCG>CTG	p.P878L	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	878					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTGTTTCACCGGCTTCTGCT	0.448		NaN											0	0	0	0.003954	0	25	41				
GDF9	2661	broad.mit.edu	37	5	132200111	132200111	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:132200111C>T	uc003kxz.1	-	1	367	c.115G>A	c.(115-117)GAG>AAG	p.E39K	GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	39					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTCCAACTCAGCACTAGCA	0.502		NaN											0	0	0	0.00361	0	56	61				
PCDHB14	56122	broad.mit.edu	37	5	140604577	140604577	+	Silent	SNP	C	C	A	rs142260227		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140604577C>A	uc003ljb.2	+	1	1500	c.1500C>A	c.(1498-1500)CTC>CTA	p.L500L	PCDHB14_uc011dal.1_Silent_p.L347L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	500	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCTTGG	0.652		NaN											1	0	3.06722e-38	0.00361	3.7285e-38	93	91				
PCDHGA4	56111	broad.mit.edu	37	5	140734986	140734986	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140734986G>T	uc003ljq.1	+	1	219	c.219G>T	c.(217-219)CAG>CAT	p.Q73H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q73H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	73	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGACGCAGCTTTTCGCCC	0.637		NaN											1	0	0.00198382	0.001984	0.00227581	7	115				
PCDHGB3	56102	broad.mit.edu	37	5	140750327	140750327	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140750327G>A	uc003ljw.1	+	1	366	c.366G>A	c.(364-366)CTG>CTA	p.L122L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Silent_p.L122L	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	122	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTGTGCTGATCCAGGATA	0.443		NaN											0	0	0	0.00361	0	127	107				
PCDHGB7	56099	broad.mit.edu	37	5	140798486	140798486	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140798486G>C	uc003lkn.1	+	1	1205	c.1060G>C	c.(1060-1062)GAT>CAT	p.D354H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D354H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	354	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTCTCTGATCAGATTAT	0.463		NaN											0	0	0	0.008361	0	26	26				
ODZ2	57451	broad.mit.edu	37	5	167553852	167553852	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:167553852G>A	uc010jjd.2	+	12	2303	c.2303G>A	c.(2302-2304)CGC>CAC	p.R768H	ODZ2_uc003lzr.3_Missense_Mutation_p.R536H|ODZ2_uc003lzt.3_Missense_Mutation_p.R132H|ODZ2_uc010jje.2_Missense_Mutation_p.R39H|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTGACCAGCGCGTGTGCCAC	0.602		NaN											0	0	0	0.003163	0	14	7				
STK10	6793	broad.mit.edu	37	5	171471888	171471888	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:171471888A>C	uc003mbo.1	-	19	3205	c.2905T>G	c.(2905-2907)TAA>GAA	p.*969E		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	969							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCGGTTGTTAAGAAGCATCC	0.592		NaN											0	0	0	0.00361	0	47	52				
OR2V2	285659	broad.mit.edu	37	5	180582343	180582343	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:180582343C>T	uc011dhj.1	+	1	401	c.401C>T	c.(400-402)CCC>CTC	p.P134L		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P134T(1)		ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCACTATCCCATCCTCATG	0.502		NaN											0	0	0	0.00361	0	56	72				
TRIM7	81786	broad.mit.edu	37	5	180625764	180625764	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:180625764G>C	uc003mmz.1	-	5	981	c.914C>G	c.(913-915)TCT>TGT	p.S305C	TRIM7_uc003mmv.1_Missense_Mutation_p.S123C|TRIM7_uc003mmw.1_Missense_Mutation_p.S97C|TRIM7_uc003mmx.1_Missense_Mutation_p.S97C|TRIM7_uc003mmy.1_Missense_Mutation_p.S97C	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	305						cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTCATCTCAGAAGAGACTGT	0.527		NaN											0	0	0	0.004007	0	15	22				
KIF13A	63971	broad.mit.edu	37	6	17777582	17777582	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:17777582C>T	uc003ncg.3	-	34	4201	c.4096G>A	c.(4096-4098)GTC>ATC	p.V1366I	KIF13A_uc003ncf.2_Missense_Mutation_p.V1353I|KIF13A_uc003nch.3_Missense_Mutation_p.V1366I|KIF13A_uc003nci.3_Missense_Mutation_p.V1353I|KIF13A_uc003nce.1_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1366					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGACTGTGACGGCCTGTAAA	0.294		NaN											0	0	0	0.000248	0	4	28				
RPS18	6222	broad.mit.edu	37	6	33243640	33243640	+	Missense_Mutation	SNP	G	G	A	rs3208874		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:33243640G>A	uc003odp.1	+	3	214	c.169G>A	c.(169-171)GGA>AGA	p.G57R	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	57					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						CAAGAGGGCGGGAGAACTCAC	0.552		NaN											0	0	0	0.000248	0	4	152				
RPL7L1	285855	broad.mit.edu	37	6	42848633	42848633	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:42848633C>G	uc003osq.1	+	2	54	c.49C>G	c.(49-51)CTG>GTG	p.L17V	RPL7L1_uc011dux.1_Missense_Mutation_p.L17V|RPL7L1_uc010jxw.1_Intron|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Missense_Mutation_p.L17V|RPL7L1_uc003oss.1_Intron|RPL7L1_uc003ost.2_Missense_Mutation_p.L17V|RPL7L1_uc003osu.2_RNA	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	17					translation	large ribosomal subunit	protein binding|structural constituent of ribosome				0	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGAAAATCTCCTGAAAAAGAG	0.378		NaN											0	0	0	0.00874	0	40	27				
MEP1A	4224	broad.mit.edu	37	6	46806751	46806751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:46806751G>T	uc010jzh.1	+	14	2161	c.2119G>T	c.(2119-2121)GAG>TAG	p.E707*	MEP1A_uc011dwg.1_Nonsense_Mutation_p.E429*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.E735*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.E607*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	707	EGF-like.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			CTACACGGGGGAGCGCTGTCA	0.587		NaN											1	0	2.61895e-37	0.00361	3.16905e-37	82	87				
ENPP3	5169	broad.mit.edu	37	6	131971180	131971180	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:131971180G>A	uc003qcu.3	+	4	515	c.168G>A	c.(166-168)AAG>AAA	p.K56K	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.K22K|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.K56K	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	56	Extracellular (Potential).|SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTGCAGGAAGAAGTGCTTTG	0.463		NaN											0	0	0	0.00623	0	41	55				
TAAR6	319100	broad.mit.edu	37	6	132891943	132891943	+	Silent	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:132891943C>A	uc011eck.1	+	1	483	c.483C>A	c.(481-483)CTC>CTA	p.L161L		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	161	Helical; Name=4; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCCTGCCCCTCATGTACAGCG	0.502		NaN											1	0	2.98797e-67	0.00361	3.6489e-67	155	154				
TAB2	23118	broad.mit.edu	37	6	149700620	149700620	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:149700620G>C	uc003qmj.2	+	3	1747	c.1569G>C	c.(1567-1569)CTG>CTC	p.L523L	TAB2_uc011eec.1_Silent_p.L491L|TAB2_uc010kia.1_Silent_p.L523L|TAB2_uc010kib.1_Silent_p.L523L|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	523					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CACGGAAACTGAGTATGGGAT	0.413		NaN											0	0	0	0.003271	0	35	31				
HOXA2	3199	broad.mit.edu	37	7	27140803	27140803	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:27140803C>T	uc003syh.2	-	2	948	c.673G>A	c.(673-675)GAG>AAG	p.E225K		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	225						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TCCTCGTCCTCCTCTACTTTC	0.517		NaN											0	0	0	0.00361	0	47	44				
TNS3	64759	broad.mit.edu	37	7	47453569	47453569	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:47453569G>C	uc003tnv.2	-	12	980	c.613C>G	c.(613-615)CAA>GAA	p.Q205E	TNS3_uc003tnw.2_Missense_Mutation_p.Q205E|TNS3_uc010kyo.1_Missense_Mutation_p.Q205E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	205	C2 tensin-type.					focal adhesion	protein binding			ovary(4)	4						TGCATGGCTTGGTAGAGCTTC	0.473		NaN											0	0	0	0.00361	0	61	84				
ZPBP	11055	broad.mit.edu	37	7	50023061	50023061	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:50023061G>A	uc003tou.2	-	7	908	c.838C>T	c.(838-840)CGT>TGT	p.R280C	ZPBP_uc011kci.1_Missense_Mutation_p.R206C|ZPBP_uc010kyw.2_Missense_Mutation_p.R279C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	280					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TGTTCTGCACGTCTGCCAAGA	0.323		NaN											0	0	0	0.00333	0	26	20				
PCLO	27445	broad.mit.edu	37	7	82785410	82785410	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:82785410C>T	uc003uhx.2	-	2	836	c.547G>A	c.(547-549)GAG>AAG	p.E183K	PCLO_uc003uhv.2_Missense_Mutation_p.E183K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	183					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGGATGCCTCAGAGTCTGAT	0.418		NaN											0	0	0	0.002096	0	29	30				
PSMC2	5701	broad.mit.edu	37	7	103003152	103003152	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:103003152C>G	uc003vbs.2	+	6	512	c.442C>G	c.(442-444)CAA>GAA	p.Q148E	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.Q11E	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						AAATAAATATCAAATTCACAT	0.333		NaN											0	0	0	0.00361	0	52	4				
ST7	7982	broad.mit.edu	37	7	116849888	116849888	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:116849888G>A	uc003vin.2	+	13	1516	c.1302G>A	c.(1300-1302)CTG>CTA	p.L434L	ST7_uc011knl.1_Silent_p.L411L|ST7_uc003vio.2_Silent_p.L411L|ST7_uc003viq.2_Silent_p.L388L|ST7_uc011knm.1_Silent_p.L391L|ST7_uc003vir.2_Silent_p.L359L|ST7_uc011knn.1_Silent_p.L382L|ST7OT3_uc003viy.1_RNA	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	434						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AACATATCCTGAAGAGAGGAG	0.388		NaN											0	0	0	0.000248	0	4	33				
STC1	6781	broad.mit.edu	37	8	23709043	23709043	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:23709043C>A	uc003xdw.1	-	3	547	c.263G>T	c.(262-264)GGA>GTA	p.G88V		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	88					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAATGCTTTTCCCTGCCATGG	0.507		NaN											1	0	4.36969e-10	0.001855	5.12375e-10	12	21				
PXDNL	137902	broad.mit.edu	37	8	52321351	52321351	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:52321351C>T	uc003xqu.3	-	17	2934	c.2833G>A	c.(2833-2835)GCG>ACG	p.A945T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	945					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCTGTCGCGCGCACTCGGTG	0.647		NaN											0	0	0	0.000978	0	12	19				
TMEM68	137695	broad.mit.edu	37	8	56675387	56675387	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:56675387G>C	uc003xsg.1	-	1	201	c.132C>G	c.(130-132)CTC>CTG	p.L44L	TMEM68_uc003xsh.1_Silent_p.L44L|TMEM68_uc003xsi.1_Silent_p.L44L	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	44						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			AAACCCACAAGAGATAGTTTG	0.338		NaN											0	0	0	0.00499	0	16	27				
EXT1	2131	broad.mit.edu	37	8	118842578	118842578	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:118842578G>A	uc003yok.1	-	4	1948	c.1175C>T	c.(1174-1176)ACA>ATA	p.T392I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	392	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGACCTGATTGTAGAAGGAAT	0.353		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	0.004007	0	16	24				
C8orf76	84933	broad.mit.edu	37	8	124253503	124253503	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:124253503G>T	uc003yqc.1	-	1	115	c.84C>A	c.(82-84)CCC>CCA	p.P28P	C8orf76_uc003yqd.2_Intron	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	28							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTAGGACGCGGGCGGTCCTG	0.557		NaN											1	0	7.48243e-07	0.006214	8.69668e-07	10	9				
SLC1A1	6505	broad.mit.edu	37	9	4585317	4585317	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:4585317G>A	uc003zij.1	+	12	1570	c.1334G>A	c.(1333-1335)CGG>CAG	p.R445Q	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	445					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCCAGGGACCGGTTCAGGACC	0.507		NaN											0	0	0	0.002096	0	30	59				
ZDHHC21	340481	broad.mit.edu	37	9	14674276	14674276	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:14674276G>A	uc003zli.2	-	4	533	c.63C>T	c.(61-63)GTC>GTT	p.V21V	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	21	Helical; (Potential).				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		ACCAAACAAAGACAATCAAAC	0.378		NaN											0	0	0	0.004672	0	3	45				
PSIP1	11168	broad.mit.edu	37	9	15468842	15468842	+	Splice_Site	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:15468842C>G	uc003zlv.3	-	14	1537	c.1207_splice	c.e14-1	p.I403_splice	PSIP1_uc003zlw.3_Splice_Site_p.I403_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCGCCGTATCTGAGAAAACA	0.299		NaN											0	0	0	0.008871	0	20	3				
FAM189A2	9413	broad.mit.edu	37	9	71990748	71990748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:71990748C>T	uc010mon.1	+	4	324	c.220C>T	c.(220-222)CAG>TAG	p.Q74*	FAM189A2_uc004ahg.2_Nonsense_Mutation_p.Q74*|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	74						integral to membrane					0						CTTTCCGGTTCAGCCCTGTAG	0.463		NaN											0	0	0	0.00361	0	57	4				
HSD17B3	3293	broad.mit.edu	37	9	98997817	98997817	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:98997817G>C	uc004awa.1	-	11	906	c.858C>G	c.(856-858)TTC>TTG	p.F286L	HSD17B3_uc010msc.1_Missense_Mutation_p.F236L	NM_000197	NP_000188	P37058	DHB3_HUMAN	estradiol 17 beta-dehydrogenase 3	286					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity				0		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CACCGCTGTAGAAGGCCCAGG	0.537		NaN											0	0	0	0.001882	0	18	0				
CXorf38	159013	broad.mit.edu	37	X	40506339	40506339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:40506339G>A	uc004dew.2	-	2	276	c.271C>T	c.(271-273)CAT>TAT	p.H91Y	CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_5'UTR|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	91										ovary(1)	1						CTGTTGACATGATGTCTCAAA	0.632		NaN											0	0	0	0.005443	0	27	0				
HUWE1	10075	broad.mit.edu	37	X	53631583	53631583	+	Missense_Mutation	SNP	G	G	C	rs141644800		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:53631583G>C	uc004dsp.2	-	26	3111	c.2709C>G	c.(2707-2709)ATC>ATG	p.I903M		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	903					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CAAACATCATGATGTAGGCAT	0.473		NaN											0	0	0	0.003271	0	34	0				
IL2RG	3561	broad.mit.edu	37	X	70327696	70327696	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:70327696C>G	uc004dyw.1	-	8	1014	c.1000G>C	c.(1000-1002)GAG>CAG	p.E334Q	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.E63Q|IL2RG_uc004dyx.1_Missense_Mutation_p.E144Q	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	334	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGGGAATCTCACTGACGAGG	0.597		NaN							Severe_Combined_Immunodeficiency_X-linked				0	0	0	0.001786	0	31	0				
IL2RG	3561	broad.mit.edu	37	X	70327726	70327726	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:70327726C>G	uc004dyw.1	-	8	984	c.970G>C	c.(970-972)GAC>CAC	p.D324H	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.D53H|IL2RG_uc004dyx.1_Missense_Mutation_p.D134H	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	324	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCACTGTAGTCTGGCTGCAGA	0.577		NaN							Severe_Combined_Immunodeficiency_X-linked				0	0	0	0.003271	0	36	0				
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:123197011C>T	uc004etz.3	+	18	2116	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GCAGTTGCCTCAGTACTTTGA	0.279		NaN											0	0	0	0.002445	0	31	1		Valid		
RENBP	5973	broad.mit.edu	37	X	153205630	153205630	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:153205630G>A	uc004fjo.1	-	9	1172	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L		NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	334					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGTAACCCATGAGGAAGGCAA	0.602		NaN											0	0	0	0.00361	0	46	1				
PTGFR	5737	broad.mit.edu	37	1	78958508	78958508	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr1:78958508G>A	uc001din.2	+	2	346	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	PTGFR_uc001dim.2_Missense_Mutation_p.R27Q	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	27	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACGGAAAACCGGCTTTCCGTA	0.438		NaN											0	0	0	0.001168	0	5	54				
NBPF14	25832	broad.mit.edu	37	1	148015635	148015635	+	Silent	SNP	A	A	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr1:148015635A>C	uc001eqq.2	-	8	1013	c.996T>G	c.(994-996)GTT>GTG	p.V332V	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.V211V	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	332	NBPF 3.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					CATCCATGTTAACAGCCAAGC	0.468		NaN											0	0	0	0.004672	0	2	3				
ANKRD2	26287	broad.mit.edu	37	10	99338106	99338106	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr10:99338106G>A	uc001knw.2	+	3	589	c.380G>A	c.(379-381)CGG>CAG	p.R127Q	ANKRD2_uc009xvu.2_Missense_Mutation_p.R127Q	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 isoform a	127					muscle contraction|muscle organ development		structural constituent of muscle				0		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CAGAAGAAGCGGGACGCTCTG	0.687		NaN											0	0	0	0.008291	0	9	60				
PNLIP	5406	broad.mit.edu	37	10	118314751	118314751	+	Silent	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr10:118314751C>T	uc001lcm.2	+	7	676	c.633C>T	c.(631-633)AGC>AGT	p.S211S		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	211					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGACCCCAGCGATGCCAAAT	0.483		NaN											0	0	0	0.00499	0	14	56				
ATG16L2	89849	broad.mit.edu	37	11	72536397	72536397	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr11:72536397C>A	uc001otd.2	+	10	1087	c.1047C>A	c.(1045-1047)AGC>AGA	p.S349R	ATG16L2_uc001ote.2_Missense_Mutation_p.S243R|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.S104R|ATG16L2_uc001otg.2_Missense_Mutation_p.S83R|ATG16L2_uc009ytk.2_Missense_Mutation_p.S104R	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	349	WD 1.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCAACAGCAGCCTCCTGGCCA	0.627		NaN											1	0	1.39924e-13	0.01441	1.57863e-13	39	84				
RFX4	5992	broad.mit.edu	37	12	107155161	107155161	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr12:107155161C>T	uc001tlr.2	+	18	2188	c.2122C>T	c.(2122-2124)CGC>TGC	p.R708C	RFX4_uc001tlt.2_Missense_Mutation_p.R717C|RFX4_uc001tlv.2_Missense_Mutation_p.R614C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	708					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						TCTGACAACGCGCAGGAATTC	0.512		NaN											0	0	0	0.003163	0	16	81				
ZNF10	7556	broad.mit.edu	37	12	133732511	133732511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr12:133732511C>T	uc009zzb.2	+	5	1126	c.679C>T	c.(679-681)CAG>TAG	p.Q227*	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Nonsense_Mutation_p.Q227*	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	227	C2H2-type 1; atypical.			Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCACCTTATTCAGTTTGCAAG	0.358		NaN											0	0	0	0.00245	0	13	73				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	0.009096	0	4	16				
HSD11B2	3291	broad.mit.edu	37	16	67470804	67470804	+	Silent	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:67470804G>A	uc002etd.2	+	5	1232	c.1116G>A	c.(1114-1116)CTG>CTA	p.L372L		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	372					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GTCACTGTCTGCCTCGAGCAC	0.662		NaN											0	0	0	0.01441	0	49	134				
KLHDC4	54758	broad.mit.edu	37	16	87743024	87743024	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:87743024G>A	uc002fki.2	-	10	1340	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.R401C|KLHDC4_uc002fkk.2_Missense_Mutation_p.R251C|KLHDC4_uc002fkl.2_Missense_Mutation_p.R375C|KLHDC4_uc010chu.1_Missense_Mutation_p.R251C	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	432										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCGTTGGAGCGTGGACACGGC	0.682		NaN											0	0	0	0.01441	0	42	137				
KDM6B	23135	broad.mit.edu	37	17	7751016	7751016	+	Silent	SNP	A	A	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:7751016A>C	uc002giw.1	+	11	1786	c.1410A>C	c.(1408-1410)CCA>CCC	p.P470P	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	470	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						caccccctccacccccctgtc	0.333		NaN											0	0	0	0.008291	0	6	11				
AXIN2	8313	broad.mit.edu	37	17	63532493	63532493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:63532493G>A	uc002jfi.2	-	8	2375	c.2086C>T	c.(2086-2088)CAG>TAG	p.Q696*	AXIN2_uc002jfh.2_Nonsense_Mutation_p.Q631*	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	696				Q -> H (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TCCTCCAGCTGAGCCAGCGTG	0.667		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				0	0	0	0.000602	0	5	73				
KRI1	65095	broad.mit.edu	37	19	10664773	10664773	+	Missense_Mutation	SNP	G	G	A	rs147727983		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:10664773G>A	uc002moy.1	-	19	1993	c.1984C>T	c.(1984-1986)CGG>TGG	p.R662W	KRI1_uc002mow.1_Missense_Mutation_p.R281W|KRI1_uc002mox.1_Missense_Mutation_p.R658W	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	662										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAGCAGCCGTGCCTTCTTG	0.642		NaN											0	0	0	0.01441	0	49	183				
GATAD2A	54815	broad.mit.edu	37	19	19606680	19606680	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:19606680G>A	uc010xqt.1	+	6	1054	c.742G>A	c.(742-744)GTC>ATC	p.V248I	GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.V267I|GATAD2A_uc010xqw.1_Missense_Mutation_p.V75I	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	248					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCCCCACTCGTCAGGGGGGC	0.672		NaN											0	0	0	0.012319	0	17	56				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:40367841T>G	uc002omp.3	-	29	13127	c.13119A>C	c.(13117-13119)GCA>GCC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4373	TIL 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627		NaN											0	0	0	0.009535	0	14	41				
CDCA7	83879	broad.mit.edu	37	2	174223511	174223511	+	Silent	SNP	G	G	A	rs142079460		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr2:174223511G>A	uc002uid.1	+	2	224	c.93G>A	c.(91-93)TCG>TCA	p.S31S	CDCA7_uc002uic.1_Silent_p.S31S|CDCA7_uc010zej.1_Silent_p.S31S|CDCA7_uc010zek.1_Intron	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	31					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGGAAACCTCGTCATCCTCTG	0.383		NaN											0	0	0	0.012319	0	16	24				
ZMYND8	23613	broad.mit.edu	37	20	45853033	45853033	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:45853033A>G	uc002xta.1	-	19	3387	c.3133T>C	c.(3133-3135)TAC>CAC	p.Y1045H	ZMYND8_uc010ghq.1_Missense_Mutation_p.Y676H|ZMYND8_uc010ghr.1_Missense_Mutation_p.Y947H|ZMYND8_uc002xst.1_Missense_Mutation_p.Y927H|ZMYND8_uc002xsu.1_Missense_Mutation_p.Y918H|ZMYND8_uc002xsv.1_Missense_Mutation_p.Y973H|ZMYND8_uc002xsw.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsx.1_Missense_Mutation_p.Y751H|ZMYND8_uc002xsy.1_Missense_Mutation_p.Y974H|ZMYND8_uc002xsz.1_Missense_Mutation_p.Y936H|ZMYND8_uc010zxy.1_Missense_Mutation_p.Y1072H|ZMYND8_uc002xtb.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xss.2_Missense_Mutation_p.Y1045H|ZMYND8_uc010zxz.1_Missense_Mutation_p.Y913H|ZMYND8_uc002xtc.1_Missense_Mutation_p.Y1019H|ZMYND8_uc002xtd.1_Missense_Mutation_p.Y994H|ZMYND8_uc002xte.1_Missense_Mutation_p.Y999H|ZMYND8_uc010zya.1_Missense_Mutation_p.Y1045H|ZMYND8_uc002xtf.1_Missense_Mutation_p.Y1065H|ZMYND8_uc002xsr.1_Missense_Mutation_p.Y144H	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1045	MYND-type.						protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAGTCACAGTAGCTAGTGTTC	0.587		NaN											0	0	0	0.01441	0	50	202				
DIDO1	11083	broad.mit.edu	37	20	61525841	61525841	+	Silent	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:61525841G>A	uc002ydr.1	-	11	2760	c.2496C>T	c.(2494-2496)GTC>GTT	p.V832V	DIDO1_uc002yds.1_Silent_p.V832V|DIDO1_uc002ydt.1_Silent_p.V832V|DIDO1_uc002ydu.1_Silent_p.V832V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	832					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGCTGCTGAAGACGTCGAGAA	0.498		NaN											0	0	0	0.012319	0	18	69				
OPRL1	4987	broad.mit.edu	37	20	62730140	62730140	+	Silent	SNP	G	G	A	rs138878509		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr20:62730140G>A	uc002yic.2	+	5	1503	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	OPRL1_uc002yid.2_Silent_p.P367P|OPRL1_uc002yif.3_Silent_p.P362P	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	367	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGACGGTACCGCGGCCCGCAT	0.657		NaN											0	0	0	0.00499	0	15	76				
SMTN	6525	broad.mit.edu	37	22	31500334	31500334	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr22:31500334T>A	uc003ajl.1	+	20	2854	c.2636T>A	c.(2635-2637)GTG>GAG	p.V879E	SMTN_uc003ajk.1_3'UTR|SMTN_uc003ajm.1_Missense_Mutation_p.V902E|SMTN_uc011ale.1_Missense_Mutation_p.V964E|SMTN_uc011alf.1_3'UTR|SMTN_uc003ajn.1_3'UTR|SMTN_uc011alg.1_3'UTR|SMTN_uc003ajo.1_3'UTR|SMTN_uc010gwe.1_3'UTR|SMTN_uc003ajp.1_RNA	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	879	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CTGGTGGAGGTGGACGACATG	0.632		NaN											0	0	0	0.01441	0	40	170				
SLC5A1	6523	broad.mit.edu	37	22	32498214	32498214	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr22:32498214C>T	uc003amc.2	+	13	1887	c.1655C>T	c.(1654-1656)CCG>CTG	p.P552L	SLC5A1_uc011alz.1_Missense_Mutation_p.P425L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	552	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						AAACCCATTCCGGATGTGCAT	0.378		NaN											0	0	0	0.004007	0	15	165				
SEMA5B	54437	broad.mit.edu	37	3	122642517	122642517	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr3:122642517C>T	uc003efz.1	-	10	1523	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	SEMA5B_uc011bju.1_Missense_Mutation_p.E349K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E407K|SEMA5B_uc010hro.1_Missense_Mutation_p.E349K|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	407	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CTGGGGTTCTCCTGGTAGCGA	0.557		NaN											0	0	0	0.01441	0	57	146				
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr3:195505772C>G	uc011bto.1	-	3	12755	c.12295G>C	c.(12295-12297)GTC>CTC	p.V4099L	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	984	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582		NaN											0	0	0	0.004482	0	3	35				
ZFYVE28	57732	broad.mit.edu	37	4	2341289	2341289	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr4:2341289C>A	uc003gex.1	-	4	731	c.412G>T	c.(412-414)GTG>TTG	p.V138L	ZFYVE28_uc011bvk.1_Missense_Mutation_p.V68L|ZFYVE28_uc011bvl.1_Missense_Mutation_p.V138L|ZFYVE28_uc003gey.3_Missense_Mutation_p.V68L|ZFYVE28_uc003gez.2_Missense_Mutation_p.V91L|ZFYVE28_uc003gew.1_Missense_Mutation_p.V24L	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	138					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GCGCCCCGCACGTCCTCCAGG	0.667		NaN											1	0	1.55795e-14	0.012319	1.80394e-14	21	9				
DEFB131	644414	broad.mit.edu	37	4	9452168	9452168	+	Silent	SNP	T	T	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr4:9452168T>C	uc011bwt.1	+	2	141	c.141T>C	c.(139-141)ATT>ATC	p.I47I		NM_001040448	NP_001035538	P59861	DB131_HUMAN	defensin, beta 131 precursor	47					defense response to bacterium	extracellular region					0						AACATGCAATTAGATACTGTG	0.373		NaN											0	0	0	0.006214	0	4	24				
CDKN1A	1026	broad.mit.edu	37	6	36652024	36652024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr6:36652024G>A	uc003omm.3	+	2	268	c.146G>A	c.(145-147)TGG>TAG	p.W49*	CDKN1A_uc011dtq.1_Nonsense_Mutation_p.W83*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.W49*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.W49*	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	49					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CGTGAGCGATGGAACTTCGAC	0.667		NaN							Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.01441	0	82	12		Valid		
MDGA1	266727	broad.mit.edu	37	6	37605212	37605212	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr6:37605212C>T	uc003onu.1	-	17	3979	c.2800G>A	c.(2800-2802)GCC>ACC	p.A934T	MDGA1_uc003onv.1_3'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	934					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TGGCAGGGGGCTCCACTGCCC	0.652		NaN											0	0	0	0.009535	0	27	65				
MLL3	58508	broad.mit.edu	37	7	151962205	151962205	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr7:151962205C>G	uc003wla.2	-	8	1321	c.1102G>C	c.(1102-1104)GGA>CGA	p.G368R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	368	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGCACATTCCATGATAGTGC	0.443		NaN	N		medulloblastoma								0	0	0	0.008361	0	25	597		Valid		
DCAF12	25853	broad.mit.edu	37	9	34107398	34107398	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr9:34107398T>C	uc003ztt.2	-	3	841	c.499A>G	c.(499-501)ATC>GTC	p.I167V		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	167	WD 1.					centrosome|CUL4 RING ubiquitin ligase complex					0						AGTCGATAGATGGCAAGACTG	0.507		NaN											0	0	0	0.01441	0	48	55				
XG	7499	broad.mit.edu	37	X	2729397	2729397	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:2729397G>A	uc011mhg.1	+	9	653	c.430G>A	c.(430-432)GTG>ATG	p.V144M	XG_uc004cqp.2_Missense_Mutation_p.V159M	NM_175569	NP_780778	P55808	XG_HUMAN	XG glycoprotein isoform 1 precursor	144	Helical; (Potential).					integral to membrane|plasma membrane				ovary(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGCAAAAATCGTGTCTCCCAT	0.418		NaN											0	0	0	0.00333	0	18	18				
FAM47C	442444	broad.mit.edu	37	X	37028026	37028026	+	Missense_Mutation	SNP	T	T	C	rs141294322		TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:37028026T>C	uc004ddl.1	+	1	1557	c.1543T>C	c.(1543-1545)TCT>CCT	p.S515P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	515										ovary(3)	3						CCCAGAGCCTTCTGAGACTGG	0.612		NaN											0	0	0	0.009096	0	4	96				
ACRC	93953	broad.mit.edu	37	X	70823916	70823916	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:70823916A>T	uc004eae.2	+	8	1290	c.789A>T	c.(787-789)GAA>GAT	p.E263D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	263	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					ATGATTCGGAAGCTCCCGACG	0.552		NaN											0	0	0	0.001984	0	6	96				
ACRC	93953	broad.mit.edu	37	X	70823918	70823918	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:70823918C>T	uc004eae.2	+	8	1292	c.791C>T	c.(790-792)GCT>GTT	p.A264V	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	264	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GATTCGGAAGCTCCCGACGAC	0.557		NaN											0	0	0	0.001984	0	6	96				
VPS13D	55187	broad.mit.edu	37	1	12463960	12463960	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:12463960C>G	uc001atv.2	+	63	12105	c.11964C>G	c.(11962-11964)CTC>CTG	p.L3988L	VPS13D_uc001atw.2_Silent_p.L3963L|VPS13D_uc001atx.2_Silent_p.L3175L|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3987					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGAAAATCTCAAAATCAGCA	0.388		NaN											0	0	0	0.013537	0	11	30				
FBXO42	54455	broad.mit.edu	37	1	16641859	16641859	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:16641859C>G	uc001ayg.2	-	2	271	c.55G>C	c.(55-57)GAA>CAA	p.E19Q	FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.E19Q	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	19										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AGCACAGTTTCTTCCTGGTCC	0.483		NaN											0	0	0	0.016723	0	12	28				
MAN1C1	57134	broad.mit.edu	37	1	25944326	25944326	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:25944326C>T	uc001bkm.2	+	1	368	c.38C>T	c.(37-39)TCC>TTC	p.S13F	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	13	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTCCCGGCCTCCCCGTGGGGG	0.701		NaN											0	0	0	0.010729	0	10	14				
ARID1A	8289	broad.mit.edu	37	1	27099981	27099981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:27099981G>C	uc001bmv.1	+	15	4233	c.3860G>C	c.(3859-3861)AGA>ACA	p.R1287T	ARID1A_uc001bmt.1_Missense_Mutation_p.R1286T|ARID1A_uc001bmu.1_Missense_Mutation_p.R1287T|ARID1A_uc001bmw.1_Missense_Mutation_p.R904T|ARID1A_uc001bmx.1_Missense_Mutation_p.R133T|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1287					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTTATGACAGAGTGAGGTAA	0.582		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.014758	0	5	19		Valid		
AHDC1	27245	broad.mit.edu	37	1	27876618	27876618	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:27876618C>T	uc009vsy.2	-	6	2978	c.2009G>A	c.(2008-2010)GGC>GAC	p.G670D	AHDC1_uc009vsz.1_Missense_Mutation_p.G670D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	670	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCTGCTTTGCCCCCACGCCG	0.642		NaN											0	0	0	0.009096	0	3	50				
EIF3I	8668	broad.mit.edu	37	1	32691917	32691917	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:32691917G>C	uc001bur.3	+	6	929	c.396G>C	c.(394-396)CAG>CAC	p.Q132H	EIF3I_uc009vuc.2_Missense_Mutation_p.Q132H|EIF3I_uc001bus.2_Missense_Mutation_p.Q84H	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	132						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				ATCCGAGCCAGATTGGTGAGG	0.542		NaN											0	0	0	0.021523	0	24	72				
EIF3I	8668	broad.mit.edu	37	1	32692108	32692108	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:32692108G>C	uc001bur.3	+	7	1038	c.505G>C	c.(505-507)GAG>CAG	p.E169Q	EIF3I_uc009vuc.2_Missense_Mutation_p.E169Q|EIF3I_uc001bus.2_Missense_Mutation_p.E121Q	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	169	WD 3.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TGAGAGTGGAGAGCTCAACCA	0.423		NaN											0	0	0	0.01441	0	52	155				
SMAP2	64744	broad.mit.edu	37	1	40882742	40882742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:40882742C>T	uc001cfj.2	+	9	1203	c.1138C>T	c.(1138-1140)CAG>TAG	p.Q380*	SMAP2_uc001cfk.2_Nonsense_Mutation_p.Q350*|SMAP2_uc010oji.1_Nonsense_Mutation_p.Q297*|SMAP2_uc010ojj.1_Nonsense_Mutation_p.Q196*	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	380	Interaction with PICALM (By similarity).|Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCAGCCAGCTCAGCAGCTGCA	0.522		NaN											0	0	0	0.016723	0	10	27				
ASB17	127247	broad.mit.edu	37	1	76397769	76397769	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:76397769A>G	uc001dhe.1	-	1	348	c.208T>C	c.(208-210)TAC>CAC	p.Y70H	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	70					intracellular signal transduction					ovary(1)	1						AATGCAATGTAATCTGTGAGT	0.388		NaN											0	0	0	0.016723	0	11	61				
FAM73A	374986	broad.mit.edu	37	1	78267138	78267138	+	Silent	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:78267138A>G	uc001dhx.2	+	3	350	c.318A>G	c.(316-318)CCA>CCG	p.P106P	FAM73A_uc010ork.1_Silent_p.P106P|FAM73A_uc010orl.1_Silent_p.P68P|FAM73A_uc001dhy.1_5'Flank	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	106						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		AAATATTACCATGGGAACCAG	0.353		NaN											0	0	0	0.016723	0	14	26				
GBP7	388646	broad.mit.edu	37	1	89598973	89598973	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:89598973C>G	uc001dna.2	-	10	1769	c.1630G>C	c.(1630-1632)GAA>CAA	p.E544Q	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	544						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTCTCAGTTCTCTCATATAG	0.448		NaN											0	0	0	0.030466	0	33	61				
LPPR4	9890	broad.mit.edu	37	1	99771891	99771891	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:99771891G>C	uc001dse.2	+	7	1723	c.1617G>C	c.(1615-1617)GAG>GAC	p.E539D	LPPR4_uc010oue.1_Missense_Mutation_p.E481D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	539							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCCCTGAGGAGACTCAGGAAA	0.557		NaN											0	0	0	0.030466	0	40	126				
FLG	2312	broad.mit.edu	37	1	152286242	152286242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:152286242C>A	uc001ezu.1	-	3	1156	c.1120G>T	c.(1120-1122)GAA>TAA	p.E374*	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	374	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAT	0.567		NaN							Ichthyosis				1	0	1.02779e-63	0.01441	1.13056e-63	143	385				
FLG2	388698	broad.mit.edu	37	1	152323603	152323603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:152323603C>T	uc001ezw.3	-	3	6732	c.6659G>A	c.(6658-6660)GGA>GAA	p.G2220E	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2220							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAGTAGTTCCCTGTCTCCC	0.532		NaN											0	0	0	0.01441	0	105	282				
PGLYRP4	57115	broad.mit.edu	37	1	153309655	153309655	+	Splice_Site	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:153309655A>G	uc001fbo.2	-	8	1008	c.943_splice	c.e8+1	p.G315_splice	PGLYRP4_uc001fbp.2_Splice_Site_p.G311_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCACTTACCTGTGAAGG	0.507		NaN											0	0	0	0.01441	0	46	31				
DCST2	127579	broad.mit.edu	37	1	155001803	155001803	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155001803G>A	uc001fgm.2	-	8	1328	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	416	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACGAGGAGGAGGTGTCGGA	0.547		NaN											0	0	0	0.021022	0	36	94				
FAM189B	10712	broad.mit.edu	37	1	155218018	155218018	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155218018C>G	uc001fjm.2	-	11	2262	c.1656G>C	c.(1654-1656)GAG>GAC	p.E552D	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.E354D|FAM189B_uc001fjn.2_Missense_Mutation_p.E456D|FAM189B_uc001fjo.2_Missense_Mutation_p.E534D|FAM189B_uc001fjp.2_RNA	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	552						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGCGCCGTTTCTCGGCTGACC	0.652		NaN											0	0	0	0.024245	0	14	12				
YY1AP1	55249	broad.mit.edu	37	1	155646459	155646459	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155646459C>G	uc001fln.2	-	5	426	c.402G>C	c.(400-402)AAG>AAC	p.K134N	YY1AP1_uc010pgg.1_Missense_Mutation_p.K2N|YY1AP1_uc010pgh.1_Missense_Mutation_p.K57N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K206N|YY1AP1_uc001flh.2_Missense_Mutation_p.K206N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K57N|YY1AP1_uc001flk.2_Missense_Mutation_p.K57N|YY1AP1_uc001fll.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.K57N|YY1AP1_uc001fli.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K57N|YY1AP1_uc001flo.2_Missense_Mutation_p.K2N|YY1AP1_uc001flp.2_Missense_Mutation_p.K68N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K134N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K206N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K206N	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	134					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTGAAGGTTTCTTCATCTTCA	0.458		NaN											0	0	0	0.010504	0	18	59				
POGK	57645	broad.mit.edu	37	1	166819004	166819004	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:166819004G>C	uc001gdt.1	+	5	1308	c.1188G>C	c.(1186-1188)CTG>CTC	p.L396L	POGK_uc010ple.1_Silent_p.L311L|POGK_uc010plf.1_Silent_p.L278L	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	396	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GGGAAAAACTGAAAATCACAG	0.498		NaN											0	0	0	0.013537	0	12	34				
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:174210653C>T	uc001gjx.2	+	5	770	c.575C>T	c.(574-576)GCA>GTA	p.A192V	RABGAP1L_uc009wwq.1_Missense_Mutation_p.A192V|RABGAP1L_uc001gjw.2_Missense_Mutation_p.A155V	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	192	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GTGGAGATAGCATCTTTTCCA	0.363		NaN											0	0	0	0.013537	0	10	23				
USH2A	7399	broad.mit.edu	37	1	215955497	215955497	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:215955497G>A	uc001hku.1	-	54	11014	c.10627C>T	c.(10627-10629)CGT>TGT	p.R3543C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3543	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCGAAAACGTTCAATTCCA	0.373		NaN								HNSCC(13;0.011)			0	0	0	0.021553	0	6	32				
TBCE	6905	broad.mit.edu	37	1	235577915	235577915	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:235577915C>G	uc001hwz.1	+	4	476	c.353C>G	c.(352-354)TCT>TGT	p.S118C	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.S118C|TBCE_uc010pxr.1_Missense_Mutation_p.S118C|TBCE_uc001hxb.1_5'UTR	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	118					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GGTTTTGACTCTATTATGAAA	0.269		NaN											0	0	0	0.028581	0	15	20				
KIF26B	55083	broad.mit.edu	37	1	245849192	245849192	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:245849192G>A	uc001ibf.1	+	12	3347	c.2907G>A	c.(2905-2907)GCG>GCA	p.A969A	KIF26B_uc001ibg.1_Silent_p.A587A|KIF26B_uc001ibh.1_Silent_p.A211A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	969					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAAGCAGCGGGGGCAAGCC	0.587		NaN											0	0	0	0.009096	0	3	16				
ADARB2	105	broad.mit.edu	37	10	1405390	1405390	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:1405390G>A	uc009xhq.2	-	3	1284	c.910C>T	c.(910-912)CGG>TGG	p.R304W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	304	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGAAGCTCCGCGCGCGCCGC	0.672		NaN											0	0	0	0.00308	0	7	7				
MYO3A	53904	broad.mit.edu	37	10	26462805	26462805	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:26462805C>T	uc001isn.2	+	30	3972	c.3612C>T	c.(3610-3612)TTC>TTT	p.F1204F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1204					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGCAAGAATTCTACCTTGTAG	0.423		NaN											0	0	0	0.004482	0	9	47				
AGAP6	414189	broad.mit.edu	37	10	51748622	51748622	+	Silent	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:51748622A>G	uc001jix.3	+	1	545	c.147A>G	c.(145-147)GTA>GTG	p.V49V		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	49					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						CTGCTGCTGTACAGCCTGCTG	0.582		NaN											0	0	0	0.021553	0	4	202				
C10orf58	84293	broad.mit.edu	37	10	82187195	82187195	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:82187195C>G	uc001kcc.3	+	5	679	c.519C>G	c.(517-519)AAC>AAG	p.N173K	C10orf58_uc001kcd.3_Missense_Mutation_p.N162K|C10orf58_uc001kce.3_Missense_Mutation_p.N173K|C10orf58_uc001kcf.3_Missense_Mutation_p.N173K	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293 precursor	173						extracellular region					0			Colorectal(32;0.229)			TCTCTGGAAACCTGGAAGGAG	0.502		NaN											0	0	0	0.023175	0	38	27				
MYOF	26509	broad.mit.edu	37	10	95072942	95072942	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:95072942G>A	uc001kin.2	-	51	5847	c.5724C>T	c.(5722-5724)CAC>CAT	p.H1908H	MYOF_uc001kio.2_Silent_p.H1895H|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1908	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GAATGATCGTGTGACGCAAGT	0.458		NaN											0	0	0	0.037714	0	30	53				
SORCS3	22986	broad.mit.edu	37	10	106916944	106916944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:106916944C>T	uc001kyi.1	+	10	1758	c.1531C>T	c.(1531-1533)CAG>TAG	p.Q511*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	511	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGGACGACCAGGTGAAGAC	0.522		NaN											0	0	0	0.027356	0	26	35				
B4GALNT4	338707	broad.mit.edu	37	11	380870	380870	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:380870C>G	uc001lpb.2	+	19	2924	c.2915C>G	c.(2914-2916)TCG>TGG	p.S972W		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	972	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTACAAGTCGGACTTTGAC	0.612		NaN											0	0	0	0.004482	0	9	19				
CEND1	51286	broad.mit.edu	37	11	788279	788279	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:788279C>T	uc001lrh.1	-	2	477	c.298G>A	c.(298-300)GGG>AGG	p.G100R		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	100	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCCGCCCCGTCCCCAGGA	0.692		NaN											0	0	0	0.021553	0	6	8				
OR51S1	119692	broad.mit.edu	37	11	4869844	4869844	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:4869844C>G	uc010qyo.1	-	1	595	c.595G>C	c.(595-597)GAA>CAA	p.E199Q		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCCAAGCTTCTGGGCAGGCC	0.542		NaN											0	0	0	0.010818	0	29	36				
PIK3C2A	5286	broad.mit.edu	37	11	17143877	17143877	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:17143877C>T	uc001mmq.3	-	14	2581	c.2515G>A	c.(2515-2517)GAT>AAT	p.D839N	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D459N|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	839					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GAAGGAAAATCAACCTTTAAA	0.303		NaN											0	0	0	0.02938	0	6	31				
MYOD1	4654	broad.mit.edu	37	11	17741681	17741681	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:17741681G>C	uc001mni.2	+	1	572	c.352G>C	c.(352-354)GAG>CAG	p.E118Q		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	118	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CACCATGCGCGAGCGGCGCCG	0.662		NaN											0	0	0	0.004672	0	3	5				
OR8J3	81168	broad.mit.edu	37	11	55904466	55904466	+	Silent	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:55904466C>A	uc010riz.1	-	1	729	c.729G>T	c.(727-729)TCG>TCT	p.S243S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CTATCATATGCGAAGCGCAGG	0.403		NaN											1	0	1.99824e-07	0.0333	2.10925e-07	17	18				
OSBP	5007	broad.mit.edu	37	11	59376031	59376031	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:59376031C>T	uc001noc.1	-	3	1228	c.748G>A	c.(748-750)GAG>AAG	p.E250K		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488		NaN											0	0	0	0.023175	0	38	45				
CHRM1	1128	broad.mit.edu	37	11	62677566	62677566	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:62677566C>T	uc001nwi.2	-	2	1408	c.1007G>A	c.(1006-1008)CGA>CAA	p.R336Q		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	336	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTGCCAGCTCGATCACGCCC	0.627		NaN											0	0	0	0.016723	0	12	15				
ANO1	55107	broad.mit.edu	37	11	70007754	70007754	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:70007754G>C	uc001opj.2	+	18	2112	c.1807G>C	c.(1807-1809)GAG>CAG	p.E603Q	ANO1_uc001opk.1_Missense_Mutation_p.E545Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E312Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	603	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GAAAAGCTTTGAGGAGAGGCT	0.537		NaN											0	0	0	0.034045	0	24	93				
PHOX2A	401	broad.mit.edu	37	11	71950871	71950871	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:71950871G>A	uc001osh.3	-	3	949	c.777C>T	c.(775-777)TCC>TCT	p.S259S		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	259					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCCCGGGGCCGGACTCCGCCG	0.726		NaN											0	0	0	0.010729	0	11	2				
KCNA6	3742	broad.mit.edu	37	12	4920778	4920778	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:4920778G>C	uc001qng.2	+	1	2437	c.1571G>C	c.(1570-1572)AGA>ACA	p.R524T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	524						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GCAGAGAAAAGAATGCTCACG	0.562		NaN								HNSCC(72;0.22)			0	0	0	0.014323	0	20	66				
PLEKHA5	54477	broad.mit.edu	37	12	19473505	19473505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:19473505G>C	uc001reb.2	+	13	1941	c.1855G>C	c.(1855-1857)GAT>CAT	p.D619H	PLEKHA5_uc010sie.1_Missense_Mutation_p.D722H|PLEKHA5_uc001rea.2_Missense_Mutation_p.D677H|PLEKHA5_uc009zin.2_Missense_Mutation_p.D377H|PLEKHA5_uc010sif.1_Missense_Mutation_p.D550H|PLEKHA5_uc010sig.1_Missense_Mutation_p.D538H|PLEKHA5_uc010sih.1_Missense_Mutation_p.D511H|PLEKHA5_uc001rec.1_Missense_Mutation_p.D365H|PLEKHA5_uc009zio.2_5'Flank	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	619							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCTGTCACAAGATGAAGGTAG	0.229		NaN											0	0	0	0.016723	0	14	126				
CCDC65	85478	broad.mit.edu	37	12	49315100	49315100	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:49315100C>G	uc001rso.2	+	8	1556	c.1329C>G	c.(1327-1329)ATC>ATG	p.I443M		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	443										ovary(1)|skin(1)	2						TGGATGGCATCTCAGTGAGTG	0.498		NaN											0	0	0	0.024245	0	14	49				
SCN8A	6334	broad.mit.edu	37	12	52200276	52200276	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:52200276G>A	uc001ryw.2	+	27	5184	c.5006G>A	c.(5005-5007)GGG>GAG	p.G1669E		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1669	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCATTTTTGGGATGTCCAAT	0.458		NaN											0	0	0	0.010729	0	12	90				
SCN8A	6334	broad.mit.edu	37	12	52200727	52200727	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:52200727C>T	uc001ryw.2	+	27	5635	c.5457C>T	c.(5455-5457)CTC>CTT	p.L1819L		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1819					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCATCCTCTCCGAGTGCCCA	0.527		NaN											0	0	0	0.030466	0	42	47				
MBD6	114785	broad.mit.edu	37	12	57918191	57918191	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:57918191C>G	uc001soj.1	+	3	329	c.105C>G	c.(103-105)CTC>CTG	p.L35L	MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	35	MBD.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GTGCTGTGCTCTACATCAGGT	0.587		NaN											0	0	0	0.02938	0	6	41				
CAND1	55832	broad.mit.edu	37	12	67703818	67703818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:67703818G>T	uc001stn.2	+	12	3600	c.3163G>T	c.(3163-3165)GAA>TAA	p.E1055*	CAND1_uc001sto.2_Nonsense_Mutation_p.E565*	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	1055	HEAT 25.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTTTACAATGAAACAAAAGT	0.348		NaN											1	0	1.67942e-08	0.006122	1.79081e-08	18	47				
KIAA1033	23325	broad.mit.edu	37	12	105527601	105527601	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:105527601C>G	uc001tld.2	+	14	1340	c.1253C>G	c.(1252-1254)TCT>TGT	p.S418C	KIAA1033_uc010swr.1_Missense_Mutation_p.S418C|KIAA1033_uc010sws.1_Missense_Mutation_p.S230C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	418					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AAAATGGAATCTATTTTGTCT	0.343		NaN											0	0	0	0.010504	0	22	49				
DDX54	79039	broad.mit.edu	37	12	113596723	113596723	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:113596723C>G	uc001tup.2	-	20	2633	c.2605G>C	c.(2605-2607)GGT>CGT	p.G869R	CCDC42B_uc010sys.1_3'UTR|DDX54_uc001tuq.3_Missense_Mutation_p.G870R	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	869					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GAGCGGGCACCCCGGCCGAAG	0.642		NaN											0	0	0	0.004482	0	6	34				
MLEC	9761	broad.mit.edu	37	12	121132930	121132930	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:121132930C>G	uc001tyy.1	+	4	775	c.624C>G	c.(622-624)CTC>CTG	p.L208L		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	208	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						TCTGTGCACTCTACATCATGG	0.498		NaN											0	0	0	0.021523	0	27	231				
RSRC2	65117	broad.mit.edu	37	12	123005942	123005942	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:123005942C>G	uc001ucr.2	-	3	343	c.197G>C	c.(196-198)AGA>ACA	p.R66T	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_5'UTR|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.E11Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R66T	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	66	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTCTTTGCTTCTGCTCCGGCT	0.318		NaN											0	0	0	0.006122	0	16	32				
GPR133	283383	broad.mit.edu	37	12	131490586	131490586	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:131490586A>C	uc001uit.3	+	12	1884	c.1325A>C	c.(1324-1326)CAC>CCC	p.H442P	GPR133_uc010tbm.1_Missense_Mutation_p.H474P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	442	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGCCCGCCCACACCAAGTGA	0.647		NaN											0	0	0	0.01892	0	23	47				
PARP4	143	broad.mit.edu	37	13	25021310	25021310	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:25021310C>T	uc001upl.2	-	26	3235	c.3129G>A	c.(3127-3129)ATG>ATA	p.M1043I		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1043	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.M1043I(1)		ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATAGCCTGGTCATTTGGTCTT	0.433		NaN											0	0	0	0.021553	0	5	41				
MTUS2	23281	broad.mit.edu	37	13	29600135	29600135	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:29600135G>A	uc001usl.3	+	1	1388	c.1330G>A	c.(1330-1332)GAC>AAC	p.D444N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	434						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTCACCAGGTGACAGTCATGT	0.488		NaN											0	0	0	0.008291	0	9	44				
FOXO1	2308	broad.mit.edu	37	13	41133687	41133687	+	Silent	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:41133687T>C	uc001uxl.3	-	2	2326	c.1941A>G	c.(1939-1941)ACA>ACG	p.T647T	FOXO1_uc010acc.1_Silent_p.T462T	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	647					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TATGTGTCGTTGTCTTGACAC	0.428		NaN											0	0	0	0.01441	0	40	56				
COG3	83548	broad.mit.edu	37	13	46039343	46039343	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:46039343G>A	uc001vak.2	+	1	273	c.172G>A	c.(172-174)GAG>AAG	p.E58K	COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.E58K|COG3_uc001vaj.1_Missense_Mutation_p.E58K|COG3_uc010tfv.1_5'UTR	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	58					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGTGCCAGCTGAGGTGAGGTG	0.692		NaN											0	0	0	0.0333	0	15	35				
DCT	1638	broad.mit.edu	37	13	95114290	95114290	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:95114290G>A	uc001vlv.3	-	5	1444	c.1017C>T	c.(1015-1017)TTC>TTT	p.F339F	DCT_uc010afh.2_Silent_p.F339F	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	339	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGTTCTGGAAGAAGGGAGGAT	0.448		NaN											0	0	0	0.010729	0	12	37				
ITGBL1	9358	broad.mit.edu	37	13	102106412	102106412	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:102106412G>A	uc001vpb.2	+	2	496	c.277G>A	c.(277-279)GAG>AAG	p.E93K	ITGBL1_uc010agb.2_Missense_Mutation_p.E93K|ITGBL1_uc001vpc.3_Intron	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	93	I.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGTGCCATGAGTGGGTGTG	0.667		NaN											0	0	0	0.02938	0	4	10				
C13orf28	122258	broad.mit.edu	37	13	113052394	113052394	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:113052394G>A	uc001vsd.1	+	3	214	c.183G>A	c.(181-183)CTG>CTA	p.L61L		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	61						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					TTTTAGATCTGAATAAAACAA	0.473		NaN											0	0	0	0.012213	0	29	100				
RALGAPA1	253959	broad.mit.edu	37	14	36064860	36064860	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:36064860C>G	uc001wti.2	-	36	6062	c.5671G>C	c.(5671-5673)GAT>CAT	p.D1891H	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1891H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1904H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D1938H	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1891	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						AAAGAATCATCAGAATCAGAA	0.338		NaN											0	0	0	0.004482	0	6	59				
PCNX	22990	broad.mit.edu	37	14	71443817	71443817	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:71443817C>T	uc001xmo.2	+	6	1209	c.763C>T	c.(763-765)CTG>TTG	p.L255L	PCNX_uc001xmn.3_Silent_p.L255L|PCNX_uc010are.1_Silent_p.L255L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	255						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATCAGTCTCTGTCCAGCGC	0.502		NaN											0	0	0	0.006214	0	10	23				
CCNK	8812	broad.mit.edu	37	14	99967695	99967695	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:99967695G>C	uc001ygi.3	+	6	650	c.520G>C	c.(520-522)GAT>CAT	p.D174H	CCNK_uc001ygg.3_Missense_Mutation_p.D174H	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	174					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATTTCTAGGTGATAAAAACAA	0.294		NaN											0	0	0	0.006214	0	9	15				
CYP46A1	10858	broad.mit.edu	37	14	100157446	100157446	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:100157446T>C	uc001ygo.2	+	2	148	c.148T>C	c.(148-150)TGG>CGG	p.W50R	CYP46A1_uc001ygn.1_5'UTR	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	50					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCCCTGCTTTTGGAAAAAGGA	0.483		NaN											0	0	0	0.030466	0	38	58				
GABRB3	2562	broad.mit.edu	37	15	26792968	26792968	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:26792968A>T	uc001zaz.2	-	9	1536	c.1394T>A	c.(1393-1395)TTA>TAA	p.L465*	GABRB3_uc010uae.1_Nonsense_Mutation_p.L380*|GABRB3_uc001zba.2_Nonsense_Mutation_p.L465*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.L521*	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	465	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGTAAACTAAGTTGAAAAG	0.353		NaN											0	0	0	0.014323	0	22	32				
TM6SF1	53346	broad.mit.edu	37	15	83776474	83776474	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:83776474C>T	uc002bjp.2	+	1	151	c.42C>T	c.(40-42)CTC>CTT	p.L14L	TM6SF1_uc010bmq.2_Silent_p.L14L|TM6SF1_uc002bjq.2_Silent_p.L14L|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	14	Helical; (Potential).					integral to membrane				ovary(1)	1						TGCTGTCCCTCTCGGCCATCC	0.567		NaN											0	0	0	0.021553	0	6	12				
MCTP2	55784	broad.mit.edu	37	15	94913372	94913372	+	Silent	SNP	T	T	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:94913372T>G	uc002btj.2	+	11	1610	c.1545T>G	c.(1543-1545)GTT>GTG	p.V515V	MCTP2_uc002bti.2_Silent_p.V515V|MCTP2_uc010boj.2_Silent_p.V244V|MCTP2_uc010bok.2_Silent_p.V515V|MCTP2_uc002btk.3_Silent_p.V103V|MCTP2_uc002btl.2_Silent_p.V103V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	515	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGTGAAGGTTTTAAAGGCAG	0.373		NaN											0	0	0	0.004482	0	7	26				
STUB1	10273	broad.mit.edu	37	16	732417	732417	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:732417C>T	uc002cit.2	+	7	1251	c.840C>T	c.(838-840)CTC>CTT	p.L280L	STUB1_uc002ciu.2_Silent_p.L208L|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	280	U-box.			L -> F (in Ref. 1; AAC18038).	cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				AGGAACAGCTCATCCCCAACT	0.587		NaN											0	0	0	0.008871	0	21	52				
TSC2	7249	broad.mit.edu	37	16	2131631	2131631	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:2131631C>A	uc002con.2	+	31	3752	c.3646C>A	c.(3646-3648)CTC>ATC	p.L1216I	TSC2_uc010bsd.2_Missense_Mutation_p.L1216I|TSC2_uc002coo.2_Missense_Mutation_p.L1172I|TSC2_uc010uvv.1_Missense_Mutation_p.L1136I|TSC2_uc010uvw.1_Missense_Mutation_p.L1124I|TSC2_uc002cop.2_Missense_Mutation_p.L972I|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1216					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GGAGAACCCGCTCAGCCCTTT	0.637		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				1	0	2.0095e-06	0.02938	2.11048e-06	6	101				
BFAR	51283	broad.mit.edu	37	16	14748942	14748942	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:14748942G>A	uc002dco.2	+	5	939	c.658G>A	c.(658-660)GAG>AAG	p.E220K	BFAR_uc002dcp.2_Missense_Mutation_p.E95K|BFAR_uc010uzh.1_Missense_Mutation_p.E92K	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	220	Lumenal (Potential).|SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						AACTTTGACAGAGGAAGAATT	0.443		NaN											0	0	0	0.010504	0	19	101				
CDH8	1006	broad.mit.edu	37	16	61851482	61851482	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:61851482G>A	uc002eog.1	-	7	1430	c.1178C>T	c.(1177-1179)TCA>TTA	p.S393L	CDH8_uc002eoh.2_Missense_Mutation_p.S162L	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	393	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTAAGTCGGTGAAGAGAAGAC	0.498		NaN											0	0	0	0.008871	0	19	44				
DUS2L	54920	broad.mit.edu	37	16	68071989	68071989	+	Silent	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:68071989G>T	uc002evi.2	+	3	212	c.63G>T	c.(61-63)CGG>CGT	p.R21R	DUS2L_uc002evj.2_Silent_p.R21R|DUS2L_uc010vkk.1_Silent_p.R21R|DUS2L_uc010cez.2_5'UTR	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	21					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CAATGGTTCGGGTAGGGACTC	0.473		NaN											1	0	4.26978e-12	0.01892	4.64783e-12	20	36				
ANKRD11	29123	broad.mit.edu	37	16	89351556	89351556	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:89351556C>T	uc002fmx.1	-	9	1855	c.1394G>A	c.(1393-1395)AGA>AAA	p.R465K	ANKRD11_uc002fmy.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnc.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnb.1_Missense_Mutation_p.R422K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	465						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGAACCTCTCTGCCTtttgt	0.443		NaN											0	0	0	0.02938	0	7	26				
VPS53	55275	broad.mit.edu	37	17	465901	465901	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:465901G>A	uc002frn.2	-	14	1545	c.1398C>T	c.(1396-1398)GCC>GCT	p.A466A	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.A466A|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.A437A|VPS53_uc002fro.2_Silent_p.A268A|VPS53_uc010cjp.1_Silent_p.A189A	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	466				A -> T (in Ref. 2; AAK27973).	protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGGGGAGCACGGCACCCCCTT	0.552		NaN											0	0	0	0.021523	0	23	5				
LLGL1	3996	broad.mit.edu	37	17	18137636	18137636	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:18137636C>T	uc002gsp.2	+	7	825	c.764C>T	c.(763-765)TCA>TTA	p.S255L		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	255	WD 5.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					GTGGTCAGCTCACACAGCGAT	0.517		NaN											0	0	0	0.004482	0	9	4				
KRT37	8688	broad.mit.edu	37	17	39580632	39580632	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:39580632G>A	uc002hwp.1	-	1	191	c.144C>T	c.(142-144)AAC>AAT	p.N48N	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	48	Head.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CGTGTGCCACGTTGGCCAAGA	0.617		NaN											0	0	0	0.009096	0	4	92				
HDAC5	10014	broad.mit.edu	37	17	42165952	42165952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:42165952G>A	uc002ifd.1	-	12	1613	c.1402C>T	c.(1402-1404)CAG>TAG	p.Q468*	HDAC5_uc002ife.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002iff.1_Nonsense_Mutation_p.Q469*|HDAC5_uc010czp.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002ifh.2_Nonsense_Mutation_p.Q468*	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	468					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGTGGGGACTGCCCGTGGAGT	0.652		NaN											0	0	0	0.009096	0	3	41				
TOB1	10140	broad.mit.edu	37	17	48940765	48940765	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:48940765G>A	uc002isw.2	-	1	649	c.614C>T	c.(613-615)TCT>TTT	p.S205F	TOB1_uc010wmy.1_Missense_Mutation_p.S205F|TOB1_uc010wmz.1_Missense_Mutation_p.S205F	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	205					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTTGATGGGAGAAGTACGTGC	0.473		NaN											0	0	0	0.020292	0	14	72				
TOB1	10140	broad.mit.edu	37	17	48941123	48941123	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:48941123G>A	uc002isw.2	-	1	291	c.256C>T	c.(256-258)CTG>TTG	p.L86L	TOB1_uc010wmy.1_Silent_p.L86L|TOB1_uc010wmz.1_Silent_p.L86L	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	86					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCCTGTGGCAGATTGCCACGA	0.433		NaN											0	0	0	0.017118	0	33	90				
SDK2	54549	broad.mit.edu	37	17	71386527	71386527	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:71386527C>A	uc010dfm.2	-	29	4091	c.4091G>T	c.(4090-4092)GGC>GTC	p.G1364V	SDK2_uc002jjt.3_Missense_Mutation_p.G523V|SDK2_uc010dfn.2_Missense_Mutation_p.G1043V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1364	Fibronectin type-III 8.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TGGCTTGAGGCCCGTGGCTGT	0.647		NaN											1	0	0.00909568	0.009096	0.00927316	4	23				
SALL3	27164	broad.mit.edu	37	18	76753543	76753543	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr18:76753543G>A	uc002lmt.2	+	2	1552	c.1552G>A	c.(1552-1554)GTG>ATG	p.V518M	SALL3_uc010dra.2_Missense_Mutation_p.V125M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCAAGCCCGTGCTGCCCAC	0.721		NaN											0	0	0	0.014758	0	4	7				
ZNF208	7757	broad.mit.edu	37	19	22155504	22155504	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:22155504T>C	uc002nqp.2	-	5	2181	c.2032A>G	c.(2032-2034)AAA>GAA	p.K678E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTTCACATTTGTAGGGTTTC	0.368		NaN											0	0	0	0.004672	0	3	26				
ZNF829	374899	broad.mit.edu	37	19	37383084	37383084	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:37383084C>G	uc002ofa.1	-	6	971	c.609G>C	c.(607-609)CAG>CAC	p.Q203H	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	203	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATCCTCTGATGTCGAG	0.383		NaN											0	0	0	0.024245	0	14	43				
SPTBN4	57731	broad.mit.edu	37	19	41040194	41040194	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:41040194G>C	uc002ony.2	+	20	4389	c.4303G>C	c.(4303-4305)GAC>CAC	p.D1435H	SPTBN4_uc002onx.2_Missense_Mutation_p.D1435H|SPTBN4_uc002onz.2_Missense_Mutation_p.D1435H|SPTBN4_uc010egx.2_Missense_Mutation_p.D178H|SPTBN4_uc010egy.1_Missense_Mutation_p.D111H|SPTBN4_uc002ooa.2_Missense_Mutation_p.D111H|SPTBN4_uc010egz.1_Missense_Mutation_p.D111H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1435	Spectrin 12.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGCAAGACGTGGACCC	0.582		NaN											0	0	0	0.006214	0	8	46				
CYP2F1	1572	broad.mit.edu	37	19	41631523	41631523	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:41631523C>T	uc002opu.1	+	9	1334	c.1278C>T	c.(1276-1278)TTC>TTT	p.F426F	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	426					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						GTCCAGCCTTCATGCCCTTCT	0.527		NaN											0	0	0	0.037714	0	10	95				
MBOAT7	79143	broad.mit.edu	37	19	54692145	54692145	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:54692145G>A	uc002qdq.2	-	4	398	c.132C>T	c.(130-132)TTC>TTT	p.F44F	MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Silent_p.F26F|MBOAT7_uc002qdr.2_Silent_p.F44F|MBOAT7_uc002qds.2_Missense_Mutation_p.H14Y|MBOAT7_uc010yen.1_Missense_Mutation_p.H14Y|MBOAT7_uc002qdt.3_Silent_p.F44F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	44	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCCACAGGTGAACAGGGTGA	0.627		NaN											0	0	0	0.020292	0	15	44				
NLRP8	126205	broad.mit.edu	37	19	56466904	56466904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:56466904C>T	uc002qmh.2	+	3	1551	c.1480C>T	c.(1480-1482)CGG>TGG	p.R494W	NLRP8_uc010etg.2_Missense_Mutation_p.R494W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTATTCTTCGGAGAATTGC	0.468		NaN											0	0	0	0.020292	0	14	159				
PXDN	7837	broad.mit.edu	37	2	1652231	1652232	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:1652231_1652232CC>AG	uc002qxa.2	-	17	3384_3385	c.3320_3321GG>CT	c.(3319-3321)CGG>CCT	p.R1107P		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1107					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATTCACAATCCGGAAGGGAGA	0.589		NaN											0	0	0	0.004672	0	13	21				
OTX1	5013	broad.mit.edu	37	2	63282824	63282824	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:63282824C>T	uc002scd.2	+	5	686	c.438C>T	c.(436-438)TCC>TCT	p.S146S	OTX1_uc010ypt.1_Silent_p.S80S	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	146						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CCAGCTCTTCCGCCAACCCAG	0.677		NaN											0	0	0	0.028581	0	14	22				
SLC1A4	6509	broad.mit.edu	37	2	65245358	65245358	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:65245358C>G	uc010yqa.1	+	6	1510	c.1188C>G	c.(1186-1188)CTC>CTG	p.L396L	SLC1A4_uc010ypy.1_Silent_p.L176L|SLC1A4_uc010ypz.1_Silent_p.L98L|SLC1A4_uc010fcv.2_Silent_p.L396L|SLC1A4_uc002sdh.2_Silent_p.L176L	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	396					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	TTGCGCAACTCAACAACGTAG	0.498		NaN											0	0	0	0.013537	0	11	96				
AAK1	22848	broad.mit.edu	37	2	69759277	69759277	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:69759277C>T	uc002sfp.2	-	6	1057	c.552G>A	c.(550-552)TTG>TTA	p.L184L	AAK1_uc010fdk.2_Silent_p.L184L|AAK1_uc010yqm.1_Silent_p.L184L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	184	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						CTCGGTCATGCAAGAGGATGT	0.413		NaN											0	0	0	0.006214	0	10	25				
EMX1	2016	broad.mit.edu	37	2	73160942	73160942	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:73160942G>A	uc002sin.1	+	3	1110	c.732G>A	c.(730-732)AGG>AGA	p.R244R	EMX1_uc002sim.1_Missense_Mutation_p.D197N	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	211	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGAACCGGAGGACAAAGTACA	0.607		NaN											0	0	0	0.030593	0	28	10				
KDM3A	55818	broad.mit.edu	37	2	86678259	86678259	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:86678259G>A	uc002sri.3	+	4	703	c.376G>A	c.(376-378)GGA>AGA	p.G126R	KDM3A_uc010ytj.1_Missense_Mutation_p.G126R|KDM3A_uc010ytk.1_Missense_Mutation_p.G74R	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	126					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						AGCTGGTTTGGGATCCATAAC	0.368		NaN											0	0	0	0.023175	0	31	7				
TGFBRAP1	9392	broad.mit.edu	37	2	105900801	105900801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:105900801G>A	uc002tcq.2	-	5	1177	c.1093C>T	c.(1093-1095)CAG>TAG	p.Q365*	TGFBRAP1_uc010fjc.2_Nonsense_Mutation_p.Q135*|TGFBRAP1_uc002tcr.3_Nonsense_Mutation_p.Q365*	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	365					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						TCCAGGAACTGAAGTTGTGCA	0.468		NaN											0	0	0	0.027356	0	23	66				
RGPD4	285190	broad.mit.edu	37	2	108487551	108487551	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:108487551G>A	uc010ywk.1	+	20	3173	c.3091G>A	c.(3091-3093)GAG>AAG	p.E1031K	RGPD4_uc002tdu.2_Missense_Mutation_p.E218K|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1031					intracellular transport		binding			skin(2)	2						CTATAAGACTGAGGACAGCGA	0.393		NaN											0	0	0	0.01441	0	60	148				
KIF5C	3800	broad.mit.edu	37	2	149861968	149861968	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:149861968G>A	uc010zbu.1	+	22	2803	c.2435G>A	c.(2434-2436)CGA>CAA	p.R812Q	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.R94Q	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	812					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGACCACCCGAGTTAAAAAA	0.403		NaN											0	0	0	0.004672	0	3	16				
TTN	7273	broad.mit.edu	37	2	179438341	179438341	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179438341A>G	uc010zfg.1	-	275	65038	c.64814T>C	c.(64813-64815)GTA>GCA	p.V21605A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300A|TTN_uc010zfi.1_Missense_Mutation_p.V15233A|TTN_uc010zfj.1_Missense_Mutation_p.V15108A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22532							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGAGGCTACATTTGTCCA	0.408		NaN											0	0	0	0.01441	0	137	51				
TTN	7273	broad.mit.edu	37	2	179501130	179501130	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179501130A>G	uc010zfg.1	-	174	33844	c.33620T>C	c.(33619-33621)GTA>GCA	p.V11207A	TTN_uc010zfh.1_Missense_Mutation_p.V4902A|TTN_uc010zfi.1_Missense_Mutation_p.V4835A|TTN_uc010zfj.1_Missense_Mutation_p.V4710A|TTN_uc010fre.1_Missense_Mutation_p.V1068A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12134							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTACCTTCTACAACAAGTTT	0.343		NaN											0	0	0	0.00308	0	7	3				
TTN	7273	broad.mit.edu	37	2	179596192	179596192	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179596192G>A	uc010zfg.1	-	56	13793	c.13569C>T	c.(13567-13569)AGC>AGT	p.S4523S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5450							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483		NaN											0	0	0	0.004672	0	3	36				
CDK15	65061	broad.mit.edu	37	2	202698639	202698639	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:202698639G>C	uc002uyt.2	+	7	724	c.675G>C	c.(673-675)CTG>CTC	p.L225L	CDK15_uc010ftm.2_Silent_p.L90L|CDK15_uc002uys.2_Silent_p.L174L|CDK15_uc010ftn.1_Silent_p.L174L|CDK15_uc010fto.1_Silent_p.L204L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	225	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	p.E225D(1)		breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	ACAGGGACCTGAAACCTCAGA	0.493		NaN											0	0	0	0.010818	0	27	55				
ALS2CR8	79800	broad.mit.edu	37	2	203831743	203831743	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:203831743G>A	uc002uzo.2	+	9	1155	c.875G>A	c.(874-876)AGA>AAA	p.R292K	ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zib.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zic.1_Missense_Mutation_p.R204K|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R292K	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	292										large_intestine(1)|ovary(1)	2						GGGCCAAGAAGAAAAGGTTTC	0.408		NaN											0	0	0	0.009535	0	27	59				
SPHKAP	80309	broad.mit.edu	37	2	228886493	228886493	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:228886493C>T	uc002vpq.2	-	6	678	c.631G>A	c.(631-633)GAG>AAG	p.E211K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E211K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E211K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	211						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTCTTCCTCGATTGAAGAT	0.468		NaN											0	0	0	0.027356	0	26	33				
FARP2	9855	broad.mit.edu	37	2	242373632	242373632	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:242373632C>T	uc002wbi.1	+	10	1044	c.927C>T	c.(925-927)TTC>TTT	p.F309F	FARP2_uc010zoq.1_Silent_p.F309F|FARP2_uc010zor.1_Silent_p.F309F	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	309	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GTAAGAACTTCTGGAAGATTT	0.398		NaN											0	0	0	0.037714	0	27	52				
FARP2	9855	broad.mit.edu	37	2	242373728	242373728	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:242373728C>G	uc002wbi.1	+	10	1140	c.1023C>G	c.(1021-1023)TTC>TTG	p.F341L	FARP2_uc010zoq.1_Missense_Mutation_p.F341L|FARP2_uc010zor.1_Missense_Mutation_p.F341L	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTCCTCCTTCAGATACAGGT	0.458		NaN											0	0	0	0.008291	0	11	23				
SEL1L2	80343	broad.mit.edu	37	20	13847482	13847482	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:13847482A>G	uc010gcf.2	-	15	1352	c.1270T>C	c.(1270-1272)TGG>CGG	p.W424R	SEL1L2_uc002woq.3_Missense_Mutation_p.W285R|SEL1L2_uc010zrl.1_Missense_Mutation_p.W424R|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	424	Extracellular (Potential).|Sel1-like 8.					integral to membrane	binding			ovary(2)	2						TAATCCTTCCATATTCCAGAG	0.363		NaN											0	0	0	0.021553	0	6	61				
C20orf186	149954	broad.mit.edu	37	20	31671341	31671341	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:31671341G>A	uc010zue.1	+	3	353	c.338G>A	c.(337-339)GGA>GAA	p.G113E		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	113						cytoplasm|extracellular region	lipid binding				0						GAGTCCGAGGGAAGCATCAGG	0.552		NaN											0	0	0	0.009096	0	4	73				
FAM83C	128876	broad.mit.edu	37	20	33879831	33879831	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:33879831C>T	uc010zux.1	-	1	395	c.277G>A	c.(277-279)GAG>AAG	p.E93K	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	93										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCTGAGCCTCGCTGAGCTCA	0.662		NaN											0	0	0	0.010729	0	11	41				
C20orf132	140699	broad.mit.edu	37	20	35766314	35766314	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:35766314G>A	uc010zvu.1	-	15	1669	c.1578C>T	c.(1576-1578)GTC>GTT	p.V526V	C20orf132_uc002xgk.2_Silent_p.V148V|C20orf132_uc002xgm.2_Silent_p.V526V|C20orf132_uc002xgn.2_Silent_p.V491V	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	401											0		Myeloproliferative disorder(115;0.00878)				TTTGTTGGCGGACTCTAGGCT	0.408		NaN											0	0	0	0.014758	0	5	16				
ZNF335	63925	broad.mit.edu	37	20	44578441	44578441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:44578441G>A	uc002xqw.2	-	24	3790	c.3667C>T	c.(3667-3669)CAG>TAG	p.Q1223*	ZNF335_uc002xqv.2_Nonsense_Mutation_p.Q335*|ZNF335_uc010zxk.1_Nonsense_Mutation_p.Q1068*	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1223	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TAGCTCACCTGGTTGTCGGAG	0.562		NaN											0	0	0	0.00308	0	7	65				
ZMYND8	23613	broad.mit.edu	37	20	45850114	45850114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:45850114G>A	uc002xta.1	-	20	3462	c.3208C>T	c.(3208-3210)CAG>TAG	p.Q1070*	ZMYND8_uc010ghq.1_Nonsense_Mutation_p.Q701*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.Q972*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.Q952*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.Q943*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.Q998*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.Q999*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.Q961*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.Q1097*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.Q1070*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.Q938*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.Q1019*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.Q1024*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.Q1070*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.Q1090*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.Q169*	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1070							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTCCTGCTGAGGAGCAGTA	0.547		NaN											0	0	0	0.02938	0	7	25				
CCT8	10694	broad.mit.edu	37	21	30435690	30435690	+	Silent	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:30435690A>G	uc002ynb.2	-	8	1023	c.924T>C	c.(922-924)TAT>TAC	p.Y308Y	CCT8_uc002ymz.2_5'Flank|CCT8_uc011acp.1_Silent_p.Y289Y|CCT8_uc002yna.2_Silent_p.Y257Y|CCT8_uc002ync.2_Silent_p.Y307Y|CCT8_uc010glm.2_Silent_p.Y249Y|CCT8_uc011acq.1_Silent_p.Y235Y	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	308					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						ACATGATATTATATTTATTTG	0.343		NaN											0	0	0	0.027356	0	25	32				
TMPRSS2	7113	broad.mit.edu	37	21	42848536	42848536	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:42848536G>T	uc002yzj.2	-	8	829	c.695C>A	c.(694-696)TCT>TAT	p.S232Y	TMPRSS2_uc010gor.2_Missense_Mutation_p.S269Y|TMPRSS2_uc010gos.1_Missense_Mutation_p.S232Y	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	232	Extracellular (Potential).|SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGCTTTTGAAGAACAGGCATC	0.428		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								1	0	3.07112e-06	0.010729	3.19335e-06	10	57				
PDXK	8566	broad.mit.edu	37	21	45170387	45170387	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:45170387G>A	uc002zdm.3	+	7	669	c.471G>A	c.(469-471)CTG>CTA	p.L157L	PDXK_uc010gpj.2_Silent_p.L157L|PDXK_uc002zdn.3_Silent_p.L129L|PDXK_uc002zdq.3_Silent_p.L84L	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	157					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCAGGTTACTGAGTGGCCGGA	0.652		NaN											0	0	0	0.021553	0	4	21				
PDXK	8566	broad.mit.edu	37	21	45170412	45170412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:45170412G>T	uc002zdm.3	+	7	694	c.496G>T	c.(496-498)GAG>TAG	p.E166*	PDXK_uc010gpj.2_Nonsense_Mutation_p.E166*|PDXK_uc002zdn.3_Nonsense_Mutation_p.E138*|PDXK_uc002zdq.3_Nonsense_Mutation_p.E93*	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	166					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCACAGCCAGGAGGAAGCCTT	0.652		NaN											1	0	5.18039e-06	0.00308	5.35991e-06	6	27				
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:17072820C>T	uc002zlp.1	-	1	881	c.621G>A	c.(619-621)GCG>GCA	p.A207A		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207V(1)		ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617		NaN											0	0	0	0.023175	0	37	63				
CECR2	27443	broad.mit.edu	37	22	17976471	17976471	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:17976471C>T	uc010gqw.1	+	2	258	c.132C>T	c.(130-132)ATC>ATT	p.I44I	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	86					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		AGGACATCATCAACTACCGCT	0.522		NaN											0	0	0	0.009096	0	4	22				
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:18918708G>A	uc010grl.2	-	2	291	c.277C>T	c.(277-279)CTG>TTG	p.L93L	PRODH_uc002zoj.3_Intron|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Silent_p.L93L	NM_016335	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase 1	93					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)	1					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547		NaN											0	0	0	0.020292	0	13	33				
MTMR3	8897	broad.mit.edu	37	22	30403146	30403146	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:30403146G>C	uc003agv.3	+	10	1043	c.715G>C	c.(715-717)GAG>CAG	p.E239Q	MTMR3_uc003agu.3_Missense_Mutation_p.E239Q|MTMR3_uc003agw.3_Missense_Mutation_p.E239Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	239	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGACAGCCAGAGGTTAGCTG	0.537		NaN											0	0	0	0.0333	0	16	53				
HMGXB4	10042	broad.mit.edu	37	22	35660675	35660675	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:35660675G>C	uc003anl.2	+	5	468	c.294G>C	c.(292-294)AAG>AAC	p.K98N	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.2_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	98					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						AGAAGAAAAAGAAAAAGTCCA	0.438		NaN											0	0	0	0.016522	0	24	53				
PDGFB	5155	broad.mit.edu	37	22	39626222	39626222	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:39626222G>A	uc003axf.2	-	5	1457	c.468C>T	c.(466-468)ATC>ATT	p.I156I	PDGFB_uc003axe.2_Silent_p.I141I	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	156					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GCACAATCTCGATCTTTCTCA	0.582		NaN	T	COL1A1	DFSP								0	0	0	0.006122	0	16	37				
ACR	49	broad.mit.edu	37	22	51182532	51182532	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:51182532C>T	uc003bnh.3	+	4	621	c.609C>T	c.(607-609)CTC>CTT	p.L203L		NM_001097	NP_001088	P10323	ACRO_HUMAN	acrosin precursor	203	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGGATCTCATCGACCTGG	0.567		NaN											0	0	0	0.01441	0	43	108				
HDAC11	79885	broad.mit.edu	37	3	13544448	13544448	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:13544448G>A	uc003bxy.2	+	8	750	c.617G>A	c.(616-618)CGC>CAC	p.R206H	HDAC11_uc010heb.2_Missense_Mutation_p.A164T|HDAC11_uc011aux.1_Missense_Mutation_p.R14H|HDAC11_uc011auy.1_Missense_Mutation_p.R155H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	206	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						GTCTACAACCGCCACATCTAC	0.547		NaN											0	0	0	0.027356	0	25	210				
ANKRD28	23243	broad.mit.edu	37	3	15720866	15720866	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:15720866C>T	uc003caj.1	-	23	2556	c.2413G>A	c.(2413-2415)GAG>AAG	p.E805K	ANKRD28_uc003cai.1_Missense_Mutation_p.E651K|ANKRD28_uc011avz.1_Missense_Mutation_p.E651K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_Intron	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	805	ANK 23.					nucleoplasm	protein binding			breast(1)	1						ATTAACATCTCAGCAGCACCT	0.343		NaN											0	0	0	0.01441	0	43	143				
NGLY1	55768	broad.mit.edu	37	3	25761126	25761126	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:25761126T>C	uc003cdl.2	-	12	1898	c.1790A>G	c.(1789-1791)GAT>GGT	p.D597G	NGLY1_uc010hfg.2_Missense_Mutation_p.D579G|NGLY1_uc003cdm.2_Missense_Mutation_p.I538V|NGLY1_uc011awo.1_Missense_Mutation_p.D555G|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	597	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						AAGACTGTTATCTGTTAGAGG	0.343		NaN											0	0	0	0.007413	0	19	26				
ZCWPW2	152098	broad.mit.edu	37	3	28520378	28520378	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:28520378C>G	uc003ceh.2	+	5	734	c.566C>G	c.(565-567)TCT>TGT	p.S189C	ZCWPW2_uc003cei.2_Missense_Mutation_p.S189C|ZCWPW2_uc010hfo.2_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	189							zinc ion binding			ovary(2)	2						TATGGATATTCTCATGAGCAA	0.294		NaN											0	0	0	0.004482	0	7	40				
STT3B	201595	broad.mit.edu	37	3	31638349	31638349	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:31638349C>T	uc011axe.1	+	4	771	c.771C>T	c.(769-771)TTC>TTT	p.F257F	STT3B_uc010hft.1_Silent_p.F257F|STT3B_uc003cer.1_Silent_p.F257F|STT3B_uc003cet.2_Silent_p.F8F	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	257	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						TATCCTATTTCTATATGGTAA	0.313		NaN											0	0	0	0.024245	0	13	43				
TRIM71	131405	broad.mit.edu	37	3	32932410	32932410	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:32932410G>C	uc003cff.2	+	4	1777	c.1714G>C	c.(1714-1716)GAG>CAG	p.E572Q		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	572	Filamin.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCAGCACATTGAGAACAGCCC	0.582		NaN											0	0	0	0.012319	0	21	86				
KBTBD5	131377	broad.mit.edu	37	3	42727789	42727789	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:42727789C>T	uc003clv.1	+	1	779	c.679C>T	c.(679-681)CGC>TGC	p.R227C		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	227	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGTGCGCTGCCGCTTGCTGCC	0.706		NaN											0	0	0	0.02938	0	7	4				
C3orf39	84892	broad.mit.edu	37	3	43122017	43122017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:43122017C>A	uc003cmq.1	-	2	1048	c.907G>T	c.(907-909)GAG>TAG	p.E303*	C3orf39_uc003cmr.1_Nonsense_Mutation_p.E303*	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	303						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		AGCTCTGCCTCATTCAGAATG	0.552		NaN											1	0	6.44725e-10	0.014323	6.94575e-10	23	80				
ZNF167	55888	broad.mit.edu	37	3	44612265	44612265	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:44612265G>A	uc010hin.2	+	6	2051	c.1663G>A	c.(1663-1665)GAA>AAA	p.E555K	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.E555K|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	555	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGAGTGTAGTGAATGTGGCAA	0.438		NaN											0	0	0	0.013537	0	13	82				
SCAP	22937	broad.mit.edu	37	3	47470073	47470073	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:47470073C>T	uc003crh.1	-	4	595	c.340G>A	c.(340-342)GTA>ATA	p.V114I	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	114	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAACGAAATACATCTACTGCC	0.547		NaN											0	0	0	0.01441	0	61	88				
GRM2	2912	broad.mit.edu	37	3	51746586	51746586	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:51746586G>A	uc010hlv.2	+	3	787	c.548G>A	c.(547-549)CGC>CAC	p.R183H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	183	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TACTTTGCCCGCACAGTGCCT	0.542		NaN											0	0	0	0.009096	0	4	177				
GLYCTK	132158	broad.mit.edu	37	3	52325777	52325777	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:52325777C>G	uc003ddo.2	+	4	640	c.544C>G	c.(544-546)CTG>GTG	p.L182V	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.L182V|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	182					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGTTCAGCTCTGCTGCCTGC	0.577		NaN									OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	22	83				
ERC2	26059	broad.mit.edu	37	3	56026169	56026169	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:56026169G>A	uc003dhr.1	-	11	2427	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	ERC2_uc003dht.1_Missense_Mutation_p.A207V	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	724	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTCCACTTCCGCTTGGGCCTT	0.478		NaN											0	0	0	0.01441	0	98	103				
PDZRN3	23024	broad.mit.edu	37	3	73432662	73432662	+	Missense_Mutation	SNP	C	C	T	rs146957114		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:73432662C>T	uc003dpl.1	-	10	3151	c.3055G>A	c.(3055-3057)GAA>AAA	p.E1019K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E676K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E717K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E736K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E739K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1019	Potential.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGCTCAGTTCGAGAATGTTC	0.498		NaN											0	0	0	0.021553	0	6	315				
ROBO1	6091	broad.mit.edu	37	3	78666910	78666910	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:78666910C>T	uc003dqe.2	-	27	4365	c.4157G>A	c.(4156-4158)GGA>GAA	p.G1386E	ROBO1_uc003dqb.2_Missense_Mutation_p.G1347E|ROBO1_uc003dqc.2_Missense_Mutation_p.G1286E|ROBO1_uc003dqd.2_Missense_Mutation_p.G1341E|ROBO1_uc010hoh.2_Missense_Mutation_p.G578E|ROBO1_uc011bgl.1_Missense_Mutation_p.G958E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1386	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTGGAGCGTCCGCTGGAAAT	0.577		NaN											0	0	0	0.006214	0	9	30				
OR5H6	79295	broad.mit.edu	37	3	97983269	97983269	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:97983269C>G	uc003dsi.1	+	1	141	c.141C>G	c.(139-141)TTC>TTG	p.F47L		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						TCCTGGCATTCTTGGTAATAT	0.413		NaN											0	0	0	0.01441	0	70	187				
COPB2	9276	broad.mit.edu	37	3	139085454	139085454	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:139085454G>A	uc003etf.3	-	15	1970	c.1840C>T	c.(1840-1842)CCA>TCA	p.P614S	COPB2_uc011bmv.1_Missense_Mutation_p.P585S|COPB2_uc010hui.2_Missense_Mutation_p.P585S	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	614					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TGTTCTTTTGGAATGGTAGGA	0.403		NaN											0	0	0	0.02938	0	6	34				
MECOM	2122	broad.mit.edu	37	3	169099220	169099220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:169099220G>A	uc011bpj.1	-	2	533	c.130C>T	c.(130-132)CAA>TAA	p.Q44*	MECOM_uc003ffl.2_Nonsense_Mutation_p.Q16*|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Nonsense_Mutation_p.Q44*|MECOM_uc011bpl.1_Nonsense_Mutation_p.Q44*	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CATGGCTCTTGAATATTGAGG	0.473		NaN											0	0	0	0.009096	0	4	35				
MAP3K13	9175	broad.mit.edu	37	3	185181390	185181390	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:185181390G>A	uc010hyf.2	+	9	1597	c.1331G>A	c.(1330-1332)GGA>GAA	p.G444E	MAP3K13_uc011brt.1_Missense_Mutation_p.G237E|MAP3K13_uc011bru.1_Missense_Mutation_p.G300E|MAP3K13_uc003fpi.2_Missense_Mutation_p.G444E|MAP3K13_uc010hyg.2_Missense_Mutation_p.G134E	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	444	Leucine-zipper 1.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAAGTGAAGGAACTTGTATA	0.443		NaN											0	0	0	0.02938	0	7	74				
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr4:8307709A>G	uc003gla.2	+	9	1412	c.1208A>G	c.(1207-1209)CAA>CGA	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GGCGGCATCCAAGATGGTGAC	0.647		NaN											0	0	0	0.014758	0	4	79				
SEMA5A	9037	broad.mit.edu	37	5	9190451	9190451	+	Missense_Mutation	SNP	G	G	A	rs141668225		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:9190451G>A	uc003jek.2	-	11	1913	c.1201C>T	c.(1201-1203)CGC>TGC	p.R401C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	401	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TGGGAAAAGCGGCTATTGTCC	0.567		NaN											0	0	0	0.027356	0	26	69				
ROPN1L	83853	broad.mit.edu	37	5	10450167	10450167	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:10450167G>C	uc003jex.3	+	3	630	c.359G>C	c.(358-360)TGT>TCT	p.C120S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	120					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CTGGATCCTTGTGAAAACAAA	0.408		NaN											0	0	0	0.012319	0	20	103				
SPEF2	79925	broad.mit.edu	37	5	35709167	35709167	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:35709167T>C	uc003jjo.2	+	19	2894	c.2783T>C	c.(2782-2784)ATT>ACT	p.I928T	SPEF2_uc003jjq.3_Missense_Mutation_p.I923T|SPEF2_uc003jjp.1_Missense_Mutation_p.I414T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	928					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGGAAATTCATCAAAGC	0.423		NaN											0	0	0	0.021553	0	6	82				
FBN2	2201	broad.mit.edu	37	5	127638767	127638767	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:127638767C>T	uc003kuu.2	-	46	6254	c.5815G>A	c.(5815-5817)GAG>AAG	p.E1939K		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1939	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGATGCCGCTCGCACTCATCA	0.348		NaN											0	0	0	0.012213	0	31	6				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889761	139889761	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:139889761C>T	uc003lfs.1	+	22	4223	c.4099C>T	c.(4099-4101)CGC>TGC	p.R1367C	ANKHD1_uc003lfq.1_Missense_Mutation_p.R1386C|ANKHD1_uc003lfr.2_Missense_Mutation_p.R1367C|ANKHD1_uc003lft.1_Missense_Mutation_p.R578C|ANKHD1_uc003lfu.1_Missense_Mutation_p.R847C|ANKHD1_uc003lfv.1_Missense_Mutation_p.R444C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R106C|ANKHD1_uc003lfw.2_Missense_Mutation_p.R5C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1367						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCATTTCGCAAGGTAAT	0.388		NaN											0	0	0	0.014758	0	4	23				
DCTN4	51164	broad.mit.edu	37	5	150099298	150099298	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:150099298G>A	uc003lsv.2	-	10	1045	c.943C>T	c.(943-945)CCC>TCC	p.P315S	DCTN4_uc003lsu.2_Missense_Mutation_p.P258S|DCTN4_uc010jhi.2_Missense_Mutation_p.P322S	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	315						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAGGTTGGGAATTGACATG	0.333		NaN											0	0	0	0.008871	0	19	2				
STK10	6793	broad.mit.edu	37	5	171472003	171472003	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:171472003C>G	uc003mbo.1	-	19	3090	c.2790G>C	c.(2788-2790)CAG>CAC	p.Q930H		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	930	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCTTCTTCTGGTTCAGAT	0.587		NaN											0	0	0	0.016723	0	13	35				
FGFR4	2264	broad.mit.edu	37	5	176523291	176523291	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:176523291C>T	uc003mfl.2	+	15	2115	c.1948C>T	c.(1948-1950)CGC>TGC	p.R650C	FGFR4_uc003mfm.2_Missense_Mutation_p.R650C|FGFR4_uc011dfu.1_Missense_Mutation_p.R582C|FGFR4_uc003mfo.2_Missense_Mutation_p.R610C	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	650	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTCCAGGGCCGCCTGCCTGT	0.672		NaN								TSP Lung(9;0.080)			0	0	0	0.028581	0	13	42				
ZBTB12	221527	broad.mit.edu	37	6	31868680	31868680	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:31868680C>G	uc003nyd.1	-	2	579	c.403G>C	c.(403-405)GAG>CAG	p.E135Q	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACCCCATCCTCTTTGAGGCCT	0.602		NaN											0	0	0	0.01892	0	22	48				
SCUBE3	222663	broad.mit.edu	37	6	35207570	35207570	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:35207570A>G	uc003okf.1	+	8	877	c.871A>G	c.(871-873)ATT>GTT	p.I291V	SCUBE3_uc003okg.1_Missense_Mutation_p.I290V|SCUBE3_uc003okh.1_Missense_Mutation_p.I178V	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	291	EGF-like 7; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CTGTGACCATATTTGCCGCAA	0.463		NaN											0	0	0	0.009096	0	3	75				
CDK19	23097	broad.mit.edu	37	6	110943360	110943360	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:110943360G>A	uc003puh.1	-	11	1114	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A	CDK19_uc003pui.1_Silent_p.A287A|CDK19_uc011eax.1_Silent_p.A223A	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	347							ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCTGGCAGCCGGCAAATACAC	0.318		NaN											0	0	0	0.009096	0	3	73				
LATS1	9113	broad.mit.edu	37	6	150001017	150001017	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:150001017G>C	uc003qmu.1	-	5	3135	c.2587C>G	c.(2587-2589)CAG>GAG	p.Q863E	LATS1_uc010kif.1_Missense_Mutation_p.Q758E|LATS1_uc003qmv.1_Missense_Mutation_p.Q863E	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	863	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTACCACTCTGATAGTACTTA	0.313		NaN											0	0	0	0.024245	0	15	21				
SYNE1	23345	broad.mit.edu	37	6	152461088	152461088	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:152461088G>C	uc010kiw.2	-	140	26057	c.25455C>G	c.(25453-25455)CTC>CTG	p.L8485L	SYNE1_uc010kiv.2_Silent_p.L3009L|SYNE1_uc003qos.3_Silent_p.L3009L|SYNE1_uc003qot.3_Silent_p.L8437L|SYNE1_uc003qou.3_Silent_p.L8485L|SYNE1_uc003qop.3_Silent_p.L670L|SYNE1_uc011eez.1_Silent_p.L687L|SYNE1_uc003qoq.3_Silent_p.L687L|SYNE1_uc003qor.3_Silent_p.L1408L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8485	Cytoplasmic (Potential).|Spectrin 31.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCTACCTTGAGCTTTTTGA	0.587		NaN								HNSCC(10;0.0054)			0	0	0	0.004482	0	9	45				
GPR141	353345	broad.mit.edu	37	7	37780343	37780343	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:37780343C>G	uc003tfm.1	+	1	348	c.348C>G	c.(346-348)ATC>ATG	p.I116M	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	116	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GATACCTCATCTTCTTCAAGT	0.493		NaN											0	0	0	0.024245	0	13	91				
LIMK1	3984	broad.mit.edu	37	7	73513430	73513430	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:73513430C>T	uc003uaa.1	+	5	635	c.470C>T	c.(469-471)TCC>TTC	p.S157F	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S123F|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	157					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				TCCCCTGGCTCCCACCTGCCC	0.647		NaN											0	0	0	0.01441	0	53	226				
FAM71F2	346653	broad.mit.edu	37	7	128317840	128317840	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:128317840G>A	uc003vnk.3	+	3	694	c.588G>A	c.(586-588)AAG>AAA	p.K196K	FAM71F2_uc010llm.1_Silent_p.K187K|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	196											0						TGGTGCCCAAGATGCCCACCA	0.453		NaN											0	0	0	0.01892	0	23	21				
TRPV5	56302	broad.mit.edu	37	7	142626153	142626153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:142626153C>A	uc003wby.1	-	5	814	c.550G>T	c.(550-552)GAG>TAG	p.E184*	TRPV5_uc003wbz.2_Nonsense_Mutation_p.E184*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	184	ANK 4.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GCTCCATGCTCAATGAGCAGC	0.612		NaN											1	0	2.23348e-06	0.028581	2.33399e-06	12	30				
PPP1R3B	79660	broad.mit.edu	37	8	8998846	8998846	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:8998846C>G	uc003wsn.3	-	2	481	c.316G>C	c.(316-318)GAG>CAG	p.E106Q	PPP1R3B_uc003wso.3_Missense_Mutation_p.E105Q	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	106					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CTCTCGCTCTCTGCTGTCGTC	0.483		NaN											0	0	0	0.012213	0	33	58				
BMP1	649	broad.mit.edu	37	8	22033756	22033756	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:22033756G>A	uc003xbg.2	+	3	607	c.363G>A	c.(361-363)GCG>GCA	p.A121A	BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.A121A|BMP1_uc003xbb.2_Silent_p.A121A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	121	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCCGGCGGGCGGCGACGTCCC	0.622		NaN											0	0	0	0.01892	0	22	41				
PPP3CC	5533	broad.mit.edu	37	8	22332514	22332514	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:22332514G>C	uc003xbs.2	+	2	424	c.97G>C	c.(97-99)GAG>CAG	p.E33Q	PPP3CC_uc003xbr.1_Missense_Mutation_p.E33Q|PPP3CC_uc011kzi.1_Missense_Mutation_p.E33Q|PPP3CC_uc003xbt.2_Missense_Mutation_p.E33Q	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	33					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GGAAGTATTTGAGAATGGGAA	0.338		NaN											0	0	0	0.008291	0	10	20				
LSM1	27257	broad.mit.edu	37	8	38021254	38021254	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:38021254C>T	uc003xkw.2	-	4	524	c.336G>A	c.(334-336)TTG>TTA	p.L112L	LSM1_uc003xkx.2_RNA	NM_014462	NP_055277	O15116	LSM1_HUMAN	Lsm1 protein	112					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0	Colorectal(12;0.000442)					CCTGCACTTTCAACTTCTCTG	0.478		NaN											0	0	0	0.006214	0	9	31				
ST18	9705	broad.mit.edu	37	8	53084772	53084772	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:53084772T>C	uc003xqz.2	-	5	805	c.649A>G	c.(649-651)AGA>GGA	p.R217G	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R182G|ST18_uc011lds.1_Missense_Mutation_p.R122G|ST18_uc003xra.2_Missense_Mutation_p.R217G|ST18_uc003xrb.2_Missense_Mutation_p.R217G	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	217						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGGGACTCTAGGTGGTTTG	0.413		NaN											0	0	0	0.01892	0	24	24				
NOL6	65083	broad.mit.edu	37	9	33464905	33464905	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:33464905G>C	uc003zsz.2	-	21	2852	c.2751C>G	c.(2749-2751)CTC>CTG	p.L917L	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L914L|NOL6_uc011lob.1_Silent_p.L865L|NOL6_uc003ztb.1_Silent_p.L917L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	917					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTTGACAAAGAGGGGGTTGT	0.483		NaN											0	0	0	0.028581	0	13	27				
NR4A3	8013	broad.mit.edu	37	9	102590691	102590691	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:102590691C>A	uc004baf.1	+	3	1096	c.367C>A	c.(367-369)CCG>ACG	p.P123T	NR4A3_uc004bae.2_Missense_Mutation_p.P123T|NR4A3_uc004bag.1_Missense_Mutation_p.P123T|NR4A3_uc004bai.2_Missense_Mutation_p.P134T	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCCTCCAGCCCGGAGGACGA	0.537		NaN	T	EWSR1	extraskeletal myxoid chondrosarcoma								1	0	1.52319e-26	0.033182	1.66673e-26	38	0				
ZBTB26	57684	broad.mit.edu	37	9	125681289	125681289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:125681289G>A	uc004bnj.2	-	2	1137	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	ZBTB26_uc004bnk.2_Nonsense_Mutation_p.Q309*	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	309	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGCCTTTCTGAGTGAAAGTC	0.443		NaN											0	0	0	0.016522	0	24	35				
STRBP	55342	broad.mit.edu	37	9	125898322	125898322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:125898322G>A	uc004bns.2	-	16	2201	c.1771C>T	c.(1771-1773)CAG>TAG	p.Q591*	STRBP_uc004bnt.2_Nonsense_Mutation_p.Q409*|STRBP_uc004bnu.2_Nonsense_Mutation_p.Q577*|STRBP_uc004bnv.2_Nonsense_Mutation_p.Q591*|STRBP_uc004bnr.2_Nonsense_Mutation_p.Q150*	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	591					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						ACTCATACCTGAGGGATAATC	0.378		NaN											0	0	0	0.004482	0	8	20				
TSC1	7248	broad.mit.edu	37	9	135797300	135797300	+	Missense_Mutation	SNP	C	C	G	rs118203401		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:135797300C>G	uc004cca.2	-	7	803	c.569G>C	c.(568-570)CGC>CCC	p.R190P	TSC1_uc004ccb.3_Missense_Mutation_p.R190P|TSC1_uc011mcq.1_Missense_Mutation_p.R139P|TSC1_uc011mcr.1_Missense_Mutation_p.R69P|TSC1_uc011mcs.1_Missense_Mutation_p.R69P|TSC1_uc004ccc.1_Missense_Mutation_p.R190P|TSC1_uc004ccd.2_Missense_Mutation_p.R190P|TSC1_uc004cce.1_Missense_Mutation_p.R190P	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	190			R -> S.		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCCATAAAGGCGATGAAAGAG	0.458		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.021022	0	32	7		Valid		
TBL1X	6907	broad.mit.edu	37	X	9659696	9659696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:9659696G>T	uc010ndq.2	+	8	1062	c.694G>T	c.(694-696)GAG>TAG	p.E232*	TBL1X_uc004csq.3_Nonsense_Mutation_p.E181*|TBL1X_uc010ndr.2_Nonsense_Mutation_p.E181*|TBL1X_uc004csr.2_Nonsense_Mutation_p.E232*|TBL1X_uc004css.2_Nonsense_Mutation_p.E183*	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	232	WD 1.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				TCGGGGCCATGAGTCTGAGGT	0.527		NaN											1	0	1.13719e-10	0.037714	1.23147e-10	30	5				
ATRX	546	broad.mit.edu	37	X	76939532	76939532	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:76939532G>C	uc004ecp.3	-	9	1448	c.1216C>G	c.(1216-1218)CAT>GAT	p.H406D	ATRX_uc004ecq.3_Missense_Mutation_p.H368D|ATRX_uc004eco.3_Missense_Mutation_p.H191D|ATRX_uc004ecr.2_Missense_Mutation_p.H367D|ATRX_uc010nlx.1_Missense_Mutation_p.H406D|ATRX_uc010nly.1_Missense_Mutation_p.H351D	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	406					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AATGCAAGATGAGCCTTCTTA	0.358		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.01441	0	71	87				
GPR119	139760	broad.mit.edu	37	X	129518617	129518617	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:129518617C>T	uc011muv.1	-	1	805	c.805G>A	c.(805-807)GTG>ATG	p.V269M		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	269	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2						GAGTTGCCCACGCCGAGCAGC	0.577		NaN											0	0	0	0.01441	0	63	1				
MAGEC1	9947	broad.mit.edu	37	X	140993970	140993970	+	Silent	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:140993970T>C	uc004fbt.2	+	4	1066	c.780T>C	c.(778-780)TTT>TTC	p.F260F	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	260							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTACTTTTGAGGGTTTTG	0.498		NaN								HNSCC(15;0.026)			0	0	0	0.021553	0	5	87				
AADACL4	343066	broad.mit.edu	37	1	12726726	12726726	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:12726726A>T	uc001auf.2	+	4	1204	c.1204A>T	c.(1204-1206)AGT>TGT	p.S402C		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	402	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGCTGTAGTCAGTTATATAAA	0.438		NaN											0	0	0	0.021553	0	5	85				
EIF4G3	8672	broad.mit.edu	37	1	21143902	21143902	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:21143902T>C	uc001bec.2	-	29	4586	c.4330A>G	c.(4330-4332)ATC>GTC	p.I1444V	EIF4G3_uc010odi.1_Missense_Mutation_p.I1048V|EIF4G3_uc010odj.1_Missense_Mutation_p.I1443V|EIF4G3_uc009vpz.2_Missense_Mutation_p.I1164V|EIF4G3_uc001bed.2_Missense_Mutation_p.I1444V|EIF4G3_uc001bef.2_Missense_Mutation_p.I1480V|EIF4G3_uc001bee.2_Missense_Mutation_p.I1450V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1444	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTCAAAGATCTGTTCATCA	0.428		NaN											0	0	0	0.139131	0	45	43				
ZNF643	65243	broad.mit.edu	37	1	40928396	40928396	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:40928396G>C	uc001cfn.1	+	5	1037	c.740G>C	c.(739-741)AGA>ACA	p.R247T	ZNF643_uc001cfl.1_Missense_Mutation_p.R145T|ZNF643_uc001cfm.1_Missense_Mutation_p.R113T	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			GGTCTTCCAAGAAAAAGAGAT	0.348		NaN											0	0	0	0.139131	0	53	57				
SARS	6301	broad.mit.edu	37	1	109777922	109777922	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:109777922C>T	uc001dwu.1	+	7	913	c.838C>T	c.(838-840)CAC>TAC	p.H280Y	SARS_uc001dwt.1_Missense_Mutation_p.H280Y|SARS_uc001dwv.1_Missense_Mutation_p.H280Y|SARS_uc001dww.1_Missense_Mutation_p.H213Y|SARS_uc001dwx.1_Missense_Mutation_p.H232Y|SARS_uc009wfa.1_Missense_Mutation_p.H280Y|SARS_uc001dwy.1_Missense_Mutation_p.H105Y|SARS_uc001dwz.1_Missense_Mutation_p.H105Y	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	280					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGCTGCCCTGCACCGGGATGA	0.587		NaN											0	0	0	0.139131	0	51	79				
LCE3D	84648	broad.mit.edu	37	1	152552263	152552263	+	Silent	SNP	G	G	A	rs139649941		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:152552263G>A	uc001fab.2	-	2	207	c.150C>T	c.(148-150)GGC>GGT	p.G50G		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	50					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGAAGCAGCCGCCCTCGGAGC	0.672		NaN											0	0	0	0.047766	0	9	67				
TMCC2	9911	broad.mit.edu	37	1	205210891	205210891	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:205210891C>T	uc001hbz.1	+	3	910	c.466C>T	c.(466-468)CGC>TGC	p.R156C	TMCC2_uc010prf.1_Missense_Mutation_p.R78C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	156						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAGCAGATCCGCTCCCGGCC	0.507		NaN											0	0	0	0.058154	0	7	18				
NLRP3	114548	broad.mit.edu	37	1	247607294	247607294	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:247607294C>T	uc001icr.2	+	9	2828	c.2690C>T	c.(2689-2691)ACG>ATG	p.T897M	NLRP3_uc001ics.2_Missense_Mutation_p.T840M|NLRP3_uc001icu.2_Missense_Mutation_p.T897M|NLRP3_uc001icw.2_Missense_Mutation_p.T840M|NLRP3_uc001icv.2_Missense_Mutation_p.T783M|NLRP3_uc010pyw.1_Missense_Mutation_p.T875M	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	897	LRR 6.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGGCCTTACGTCAGTCTGT	0.512		NaN											0	0	0	0.043863	0	19	30				
ANUBL1	93550	broad.mit.edu	37	10	46121709	46121709	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr10:46121709G>A	uc001jcp.3	-	7	1804	c.1562C>T	c.(1561-1563)TCT>TTT	p.S521F	ANUBL1_uc001jcl.3_Missense_Mutation_p.S41F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S521F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S447F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S447F|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	521							zinc ion binding				0						AGTAGTCCTAGAGAAAGAAGA	0.393		NaN											0	0	0	0.021553	0	5	69				
OR6Q1	219952	broad.mit.edu	37	11	57798438	57798438	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr11:57798438C>T	uc010rjz.1	+	1	14	c.14C>T	c.(13-15)ACC>ATC	p.T5I	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				CAACCATATACCAAAAACTGG	0.458		NaN											0	0	0	0.047766	0	8	205				
WNK1	65125	broad.mit.edu	37	12	1017767	1017767	+	Missense_Mutation	SNP	A	A	G	rs144574284	by1000genomes	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:1017767A>G	uc001qio.3	+	28	7465	c.6958A>G	c.(6958-6960)ATG>GTG	p.M2320V	WNK1_uc001qip.3_Missense_Mutation_p.M2072V|WNK1_uc001qir.3_Missense_Mutation_p.M1493V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2320					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACCAAGTCTATGTGCCCCCC	0.592		NaN											0	0	0	0.139131	0	64	40				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:2062350C>G	uc001qjx.1	-	7	836	c.756G>C	c.(754-756)CAG>CAC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.458		NaN											0	0	0	0.150653	0	3	70				
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:4835915C>G	uc001qne.1	+	2	521	c.429C>G	c.(427-429)CTC>CTG	p.L143L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	143	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CCCAGGACCTCTTCCGGAAGT	0.557		NaN											0	0	0	0.139131	0	85	44				
SLC2A13	114134	broad.mit.edu	37	12	40499377	40499377	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:40499377G>A	uc010skm.1	-	1	285	c.234C>T	c.(232-234)CCC>CCT	p.P78P	SLC2A13_uc001rmf.2_Silent_p.P78P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	78	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				ACACGAAGGCGGGGGTCTCGT	0.478		NaN								HNSCC(50;0.14)			0	0	0	0.058154	0	6	7				
GIT2	9815	broad.mit.edu	37	12	110391020	110391020	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:110391020C>T	uc001tps.2	-	13	1284	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_5'UTR|GIT2_uc001tpq.2_Silent_p.L373L|GIT2_uc001tpv.2_Silent_p.L375L|GIT2_uc001tpu.2_Silent_p.L373L|GIT2_uc001tpt.2_Silent_p.L373L|GIT2_uc010sxu.1_Silent_p.L311L|GIT2_uc001tpw.2_Silent_p.L373L|GIT2_uc010sxv.1_Silent_p.L373L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	373					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TGATGGTTTTCAGTATGAGCT	0.413		NaN											0	0	0	0.139131	0	48	134				
POU4F1	5457	broad.mit.edu	37	13	79175754	79175754	+	Silent	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr13:79175754G>T	uc001vkv.2	-	2	1290	c.1056C>A	c.(1054-1056)GGC>GGA	p.G352G	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	352					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTTCTCGCCGCCGTTGAAGA	0.652		NaN											1	0	0.000157383	0.038147	0.00016443	7	24				
ZFYVE19	84936	broad.mit.edu	37	15	41105570	41105570	+	Silent	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:41105570T>C	uc001zmt.1	+	8	1579	c.1065T>C	c.(1063-1065)GAT>GAC	p.D355D	ZFYVE19_uc001zmu.1_Silent_p.D287D|ZFYVE19_uc001zmv.1_Silent_p.D180D|ZFYVE19_uc001zmw.1_Silent_p.D180D|ZFYVE19_uc001zmx.1_Silent_p.D180D|ZFYVE19_uc010bcc.1_Silent_p.D180D	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	355	Potential.						zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGACAGTGATGACGACGAGG	0.587		NaN											0	0	0	0.09319	0	9	23				
ANXA2	302	broad.mit.edu	37	15	60641322	60641322	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:60641322C>A	uc002agn.2	-	13	1072	c.912G>T	c.(910-912)AGG>AGT	p.R304S	ANXA2_uc002agk.2_Missense_Mutation_p.R304S|ANXA2_uc002agl.2_Missense_Mutation_p.R304S|ANXA2_uc002agm.2_Missense_Mutation_p.R322S|ANXA2_uc010uhd.1_RNA	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	304	Annexin 4.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TGAATTCAGACCTAATTTTCA	0.502		NaN											1	0	3.27435e-08	0.11911	3.4728e-08	14	57				
C15orf39	56905	broad.mit.edu	37	15	75501097	75501097	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:75501097G>A	uc002azp.3	+	2	3028	c.2708G>A	c.(2707-2709)CGC>CAC	p.R903H	C15orf39_uc002azq.3_Missense_Mutation_p.R903H|C15orf39_uc002azr.3_Missense_Mutation_p.R301H	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	903											0						CTGGCGCTGCGCCAGCTGCCG	0.697		NaN											0	0	0	0.144211	0	22	19				
ADAMTSL3	57188	broad.mit.edu	37	15	84651669	84651669	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:84651669G>C	uc002bjz.3	+	21	3513	c.3289G>C	c.(3289-3291)GAT>CAT	p.D1097H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1097H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1097H	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1097						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCCAGTTTGATGAGCTGAT	0.473		NaN											0	0	0	0.183431	0	31	64				
PITPNC1	26207	broad.mit.edu	37	17	65671602	65671602	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr17:65671602G>A	uc002jgc.2	+	8	973	c.626G>A	c.(625-627)CGA>CAA	p.R209Q	PITPNC1_uc002jgb.2_Missense_Mutation_p.R209Q	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	209					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TAGGTGGTCCGAGACATTCTG	0.373		NaN											0	0	0	0.175082	0	15	96				
DOT1L	84444	broad.mit.edu	37	19	2220125	2220125	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:2220125G>A	uc002lvb.3	+	23	2746	c.2710G>A	c.(2710-2712)GTG>ATG	p.V904M	DOT1L_uc002lvc.1_Missense_Mutation_p.V198M|DOT1L_uc002lve.1_Missense_Mutation_p.V198M	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	904						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGTCCCGTGCTGCAGCC	0.617		NaN											0	0	0	0.02938	0	5	75		Valid		
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:9090831A>G	uc002mkp.2	-	1	1188	c.984T>C	c.(982-984)CCT>CCC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	328	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCATGGAAAAAGGGATAGCTG	0.522		NaN											0	0	0	0.115264	0	3	86				
CILP2	148113	broad.mit.edu	37	19	19655933	19655933	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:19655933G>A	uc002nmv.3	+	8	2664	c.2579G>A	c.(2578-2580)CGC>CAC	p.R860H	CILP2_uc002nmw.3_Missense_Mutation_p.R866H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	860						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						AACGGCTTCCGCATCAACCTC	0.701		NaN											0	0	0	0.150653	0	4	76				
ZNF737	100129842	broad.mit.edu	37	19	20728097	20728097	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:20728097C>T	uc002npa.2	-	4	1092	c.912G>A	c.(910-912)AAG>AAA	p.K304K		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	304					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TATGAATTATCTTATGCGCAG	0.408		NaN											0	0	0	0.153744	0	30	44				
ZNF681	148213	broad.mit.edu	37	19	23927314	23927314	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:23927314G>A	uc002nrk.3	-	4	1180	c.1038C>T	c.(1036-1038)GCC>GCT	p.A346A	ZNF681_uc002nrl.3_Silent_p.A277A|ZNF681_uc002nrj.3_Silent_p.A277A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	346	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTGGTTAAAGGCTTTGCCAC	0.433		NaN											0	0	0	0.047766	0	5	158				
ATP4A	495	broad.mit.edu	37	19	36050775	36050775	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:36050775G>A	uc002oal.1	-	7	1017	c.988C>T	c.(988-990)CGG>TGG	p.R330W	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	330	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACCATGGCCCGCAGGAAGGTG	0.577		NaN											0	0	0	0.099896	0	27	27				
CATSPERG	57828	broad.mit.edu	37	19	38847487	38847487	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:38847487T>C	uc002oih.3	+	11	1388	c.1301T>C	c.(1300-1302)GTC>GCC	p.V434A	CATSPERG_uc002oig.3_Intron|CATSPERG_uc002oif.3_Missense_Mutation_p.V74A|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	434	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TTCCAGGTGGTCAGCTACAAC	0.527		NaN											0	0	0	0.139131	0	74	99				
CYP2B6	1555	broad.mit.edu	37	19	41518645	41518645	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:41518645G>T	uc002opr.1	+	8	1226	c.1219G>T	c.(1219-1221)GCC>TCC	p.A407S	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.A207S	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	407					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AAAACCAGACGCCTTCAATCC	0.458		NaN											1	0	1.16149e-67	0.139131	1.33286e-67	109	101				
KLK15	55554	broad.mit.edu	37	19	51330226	51330226	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:51330226C>T	uc002ptl.2	-	3	420	c.389G>A	c.(388-390)CGT>CAT	p.R130H	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.R130H|KLK15_uc002pto.2_Missense_Mutation_p.R129H|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.R129H|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTGGGGGCAACGCGTGGGTAG	0.706		NaN											0	0	0	0.173368	0	29	34				
TTN	7273	broad.mit.edu	37	2	179394807	179394807	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:179394807C>G	uc010zfg.1	-	308	98931	c.98707G>C	c.(98707-98709)GAC>CAC	p.D32903H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26598H|TTN_uc010zfi.1_Missense_Mutation_p.D26531H|TTN_uc010zfj.1_Missense_Mutation_p.D26406H|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33830							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCCTTGTCTTCAGAGAGT	0.348		NaN											0	0	0	0.146539	0	13	26				
TTN	7273	broad.mit.edu	37	2	179428319	179428319	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:179428319C>T	uc010zfg.1	-	275	75060	c.74836G>A	c.(74836-74838)GTT>ATT	p.V24946I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18641I|TTN_uc010zfi.1_Missense_Mutation_p.V18574I|TTN_uc010zfj.1_Missense_Mutation_p.V18449I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25873							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATCTAACGCCTTCCTTA	0.463		NaN											0	0	0	0.139131	0	59	65				
C2orf66	401027	broad.mit.edu	37	2	197672317	197672317	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:197672317C>T	uc002utv.2	-	2	1093	c.204G>A	c.(202-204)AAG>AAA	p.K68K		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	68						extracellular region					0						GACCTCTGCCCTTAAAATATG	0.388		NaN											0	0	0	0.139131	0	41	74				
ANKRD44	91526	broad.mit.edu	37	2	197975551	197975551	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:197975551A>T	uc002uuc.2	-	9	1091	c.924T>A	c.(922-924)AGT>AGA	p.S308R	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.S283R|ANKRD44_uc002uub.2_Missense_Mutation_p.S308R|ANKRD44_uc010zgw.1_Missense_Mutation_p.S236R	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	308	ANK 10.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTGCAGTGGACTTTTGCCAT	0.448		NaN											0	0	0	0.047766	0	8	166				
ATG16L1	55054	broad.mit.edu	37	2	234183394	234183394	+	Silent	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:234183394G>T	uc002vty.2	+	9	1181	c.924G>T	c.(922-924)GTG>GTT	p.V308V	ATG16L1_uc002vtx.1_Silent_p.V145V|ATG16L1_uc002vua.2_Silent_p.V289V|ATG16L1_uc002vub.2_Silent_p.V166V|ATG16L1_uc002vtz.2_Silent_p.V164V|ATG16L1_uc002vud.3_Silent_p.V224V|SCARNA5_uc002vue.1_5'Flank	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	308					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTAAAGAAGTGAGGGTACCAG	0.473		NaN											1	0	2.35958e-20	0.11126	2.66405e-20	34	34				
KRTAP27-1	643812	broad.mit.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:31709534G>A	uc002ynx.1	-	1	479	c.453C>T	c.(451-453)TTC>TTT	p.F151F		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament		p.F151S(1)		ovary(2)	2						CCAGAGTTTCGAAATTTTTAG	0.493		NaN											0	0	0	0.139131	0	81	100				
UMODL1	89766	broad.mit.edu	37	21	43519101	43519101	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:43519101C>T	uc002zaf.1	+	7	997	c.997C>T	c.(997-999)CGT>TGT	p.R333C	UMODL1_uc002zad.1_Missense_Mutation_p.R261C|UMODL1_uc002zae.1_Missense_Mutation_p.R261C|UMODL1_uc002zag.1_Missense_Mutation_p.R333C|UMODL1_uc010gow.1_Missense_Mutation_p.R125C|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.R78C	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	333	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						AGTATCCTGGCGTTTAAATTC	0.522		NaN											0	0	0	0.014758	0	5	119				
TRPM2	7226	broad.mit.edu	37	21	45784025	45784025	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:45784025C>T	uc002zet.1	+	4	496	c.283C>T	c.(283-285)CAT>TAT	p.H95Y	TRPM2_uc002zeu.1_Missense_Mutation_p.H95Y|TRPM2_uc002zew.1_Missense_Mutation_p.H95Y|TRPM2_uc010gpt.1_Missense_Mutation_p.H95Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	95	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TGGCTACACGCATGAGCAGCA	0.423		NaN											0	0	0	0.083992	0	23	23				
MASP1	5648	broad.mit.edu	37	3	186968087	186968087	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr3:186968087C>G	uc003frh.1	-	8	1374	c.1042G>C	c.(1042-1044)GAG>CAG	p.E348Q	MASP1_uc003fri.2_Missense_Mutation_p.E348Q|MASP1_uc003frj.2_Missense_Mutation_p.E317Q|MASP1_uc003frk.1_Missense_Mutation_p.E348Q|MASP1_uc011bse.1_Missense_Mutation_p.E322Q	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	348	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTCAGACACTCAATCTGGAAT	0.393		NaN											0	0	0	0.139131	0	79	136				
WHSC2	7469	broad.mit.edu	37	4	1985711	1985711	+	Missense_Mutation	SNP	G	G	A	rs149343602		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:1985711G>A	uc003gem.2	-	9	1439	c.1199C>T	c.(1198-1200)GCG>GTG	p.A400V	WHSC2_uc003gek.2_Missense_Mutation_p.A126V|WHSC2_uc003gel.2_Missense_Mutation_p.A314V|WHSC2_uc003gen.2_Missense_Mutation_p.A254V	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	389					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GGTGGGCGCCGCAGGCGTGGG	0.716		NaN											0	0	0	0.014758	0	3	34				
ADH6	130	broad.mit.edu	37	4	100137347	100137347	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:100137347G>T	uc003hup.3	-	2	185	c.91C>A	c.(91-93)CCA>ACA	p.P31T	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.P31T|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.P31T	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	31					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GCCTTTGGTGGGGCCACTTCT	0.403		NaN											1	0	6.45866e-13	0.104719	7.06416e-13	32	45				
F11	2160	broad.mit.edu	37	4	187209661	187209661	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:187209661G>A	uc003iza.1	+	15	2104	c.1771G>A	c.(1771-1773)GGC>AGC	p.G591S	uc003izb.1_RNA	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	591	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCATCTGGTAGGCATCACGAG	0.552		NaN											0	0	0	0.139131	0	53	82				
PSMB9	5698	broad.mit.edu	37	6	32825140	32825140	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:32825140G>A	uc003sga.2	+	4	268	c.193G>A	c.(193-195)GAC>AAC	p.D65N	PSMB9_uc011dqj.1_Intron	NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0						AGCCGTGGCCGACATGGCCGC	0.602		NaN											0	0	0	0.014758	0	4	44				
THEMIS	387357	broad.mit.edu	37	6	128040858	128040858	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:128040858G>T	uc003qbi.2	-	6	2188	c.1869C>A	c.(1867-1869)AGC>AGA	p.S623R	THEMIS_uc010kfa.2_Missense_Mutation_p.S526R|THEMIS_uc011ebt.1_Missense_Mutation_p.S662R|THEMIS_uc010kfb.2_Missense_Mutation_p.S588R	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	623					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						CCCCACGGTTGCTCCTTTCTT	0.438		NaN											1	0	2.52991e-16	0.139131	2.81101e-16	40	47				
C6orf192	116843	broad.mit.edu	37	6	133111328	133111328	+	Silent	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:133111328T>C	uc003qdw.1	-	3	419	c.267A>G	c.(265-267)GTA>GTG	p.V89V	C6orf192_uc011eco.1_Missense_Mutation_p.I13V	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	89	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)		AGTTTCCAAATACCAAGGATG	0.313		NaN											0	0	0	0.014758	0	5	6				
PCLO	27445	broad.mit.edu	37	7	82451883	82451883	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr7:82451883T>C	uc003uhx.2	-	20	15008	c.14719A>G	c.(14719-14721)ACC>GCC	p.T4907A	PCLO_uc003uhv.2_Missense_Mutation_p.T4907A|PCLO_uc003uht.1_Missense_Mutation_p.T349A|PCLO_uc003uhu.1_Missense_Mutation_p.T328A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4769					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCAGGTGGGTCTGAGTGACG	0.502		NaN											0	0	0	0.139131	0	77	165				
TNFRSF10A	8797	broad.mit.edu	37	8	23056899	23056899	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:23056899C>G	uc003xda.2	-	8	959	c.894G>C	c.(892-894)GAG>GAC	p.E298D		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	298	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGCTCAGAATCTCGTTGTGAG	0.562		NaN											0	0	0	0.139131	0	67	11				
FAM110B	90362	broad.mit.edu	37	8	59059268	59059268	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:59059268C>T	uc003xtj.1	+	5	1359	c.479C>T	c.(478-480)GCG>GTG	p.A160V		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	160						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CACTCCTTCGCGGAGTCCCTG	0.697		NaN											0	0	0	0.014758	0	5	18				
PREX2	80243	broad.mit.edu	37	8	68950493	68950493	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:68950493G>A	uc003xxv.1	+	7	832	c.805G>A	c.(805-807)GAT>AAT	p.D269N	PREX2_uc003xxu.1_Missense_Mutation_p.D269N|PREX2_uc011lez.1_Missense_Mutation_p.D204N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	269	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTTTCTTTTCGATAATCTTTT	0.398		NaN											0	0	0	0.083992	0	21	57				
TMEM55A	55529	broad.mit.edu	37	8	92008912	92008912	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:92008912C>T	uc003yes.2	-	6	826	c.600G>A	c.(598-600)ATG>ATA	p.M200I		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	200	Helical; (Potential).					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			AAATACATATCATTCCAATGG	0.393		NaN											0	0	0	0.043863	0	14	36				
PDP1	54704	broad.mit.edu	37	8	94934837	94934837	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:94934837C>T	uc003yge.2	+	2	819	c.550C>T	c.(550-552)CGG>TGG	p.R184W	PDP1_uc003ygf.2_Missense_Mutation_p.R209W|PDP1_uc010max.2_Missense_Mutation_p.R209W|PDP1_uc011lgm.1_Missense_Mutation_p.R184W|PDP1_uc011lgn.1_Missense_Mutation_p.R243W	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	184					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GGAGAGCGGCCGGGCACTGCT	0.453		NaN											0	0	0	0.144211	0	29	49				
PKHD1L1	93035	broad.mit.edu	37	8	110448690	110448690	+	Splice_Site	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:110448690T>C	uc003yne.2	+	30	3731	c.3627_splice	c.e30+2	p.K1209_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACCAAAAGTAAGGCCTCTG	0.393		NaN								HNSCC(38;0.096)			0	0	0	0.134883	0	26	14				
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr9:6012658T>G	uc003zjr.2	-	1	2961	c.2950A>C	c.(2950-2952)ATA>CTA	p.I984L	RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	984	HEAT 7.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363		NaN											0	0	0	0.021553	0	5	42				
TLR7	51284	broad.mit.edu	37	X	12905875	12905875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chrX:12905875C>T	uc004cvc.2	+	3	2387	c.2248C>T	c.(2248-2250)CGA>TGA	p.R750*		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	750	Extracellular (Potential).|LRR 26.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CTTCCAGTTGCGATATCTGGA	0.383		NaN											0	0	0	0.02938	0	7	53				
RAP1GAP	5909	broad.mit.edu	37	1	21934840	21934840	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:21934840G>A	uc001bex.2	-	17	1420	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	RAP1GAP_uc001bev.2_Missense_Mutation_p.R388W|RAP1GAP_uc001bew.2_Missense_Mutation_p.R452W|RAP1GAP_uc001bey.2_Missense_Mutation_p.R388W	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	388	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCCGCGTCCGCTCCTGTGGG	0.647		NaN											0	0	0	0.004672	0	3	31				
TCHHL1	126637	broad.mit.edu	37	1	152058669	152058669	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:152058669C>G	uc001ezo.1	-	3	1554	c.1489G>C	c.(1489-1491)GAA>CAA	p.E497Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	497							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTGTTCTTTCTCTTGCCCCC	0.478		NaN											0	0	0	0.017118	0	33	168				
FAM129A	116496	broad.mit.edu	37	1	184787960	184787960	+	Splice_Site	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:184787960C>T	uc001gra.2	-	9	1180	c.986_splice	c.e9-1	p.A329_splice	FAM129A_uc001grb.1_Splice_Site_p.A92_splice|FAM129A_uc009wyh.1_Splice_Site_p.A157_splice|FAM129A_uc009wyi.1_Splice_Site_p.A127_splice	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						GCCACCATCGCTGAGGTAGGA	0.562		NaN											0	0	0	0.019004	0	33	114				
OBSCN	84033	broad.mit.edu	37	1	228462331	228462331	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:228462331C>T	uc009xez.1	+	20	5786	c.5742C>T	c.(5740-5742)GGC>GGT	p.G1914G	OBSCN_uc001hsn.2_Silent_p.G1914G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1914	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGAGGGCGGCGAGGCCACCT	0.627		NaN											0	0	0	0.004482	0	7	16				
FAM188A	80013	broad.mit.edu	37	10	15863726	15863726	+	Splice_Site	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:15863726C>T	uc001iod.1	-	9	952	c.731_splice	c.e9-1	p.K244_splice	FAM188A_uc001ioe.1_Splice_Site_p.K71_splice|FAM188A_uc001iof.1_Splice_Site_p.K244_splice	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97						apoptosis	nucleus	calcium ion binding			ovary(1)	1						CCAAGAAGTTCTGCAAAAAAC	0.289		NaN											0	0	0	0.004482	0	8	28				
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:534286C>G	uc001lpv.2	-	2	225	c.37G>C	c.(37-39)GGT>CGT	p.G13R	HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	13	GTP.		G -> D (in FCSS).|G -> C (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			0	0	0	0.006122	0	18	10		Valid		
TRIM68	55128	broad.mit.edu	37	11	4621770	4621770	+	Silent	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:4621770C>G	uc001lzf.1	-	7	1432	c.1194G>C	c.(1192-1194)CTG>CTC	p.L398L	TRIM68_uc001lzg.1_Silent_p.L175L|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	398	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCCTTCCTCAGCCTTATCA	0.557		NaN											0	0	0	0.020292	0	12	41				
C11orf58	10944	broad.mit.edu	37	11	16774368	16774368	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:16774368C>G	uc001mmk.2	+	4	423	c.245C>G	c.(244-246)TCT>TGT	p.S82C	C11orf58_uc010rct.1_Missense_Mutation_p.S38C	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	82											0						GAACTGGAGTCTCAATATCAG	0.348		NaN											0	0	0	0.013114	0	42	7				
PTPRJ	5795	broad.mit.edu	37	11	48158582	48158582	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:48158582T>C	uc001ngp.3	+	10	2256	c.1901T>C	c.(1900-1902)GTA>GCA	p.V634A	PTPRJ_uc010rhr.1_Missense_Mutation_p.V79A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	634	Extracellular (Potential).|Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AACATTGATGTAAGTACCAAC	0.408		NaN											0	0	0	0.00499	0	12	52				
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:55541619C>T	uc010ril.1	+	1	706	c.706C>T	c.(706-708)CGC>TGC	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408		NaN											0	0	0	0.016522	0	19	58				
ARAP1	116985	broad.mit.edu	37	11	72412694	72412694	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:72412694C>G	uc001osu.2	-	16	2491	c.2302G>C	c.(2302-2304)GAG>CAG	p.E768Q	ARAP1_uc001osv.2_Missense_Mutation_p.E768Q|ARAP1_uc001osr.2_Missense_Mutation_p.E528Q|ARAP1_uc001oss.2_Missense_Mutation_p.E523Q|ARAP1_uc009yth.2_Missense_Mutation_p.E462Q|ARAP1_uc010rre.1_Missense_Mutation_p.E523Q|ARAP1_uc001osw.1_Missense_Mutation_p.E56Q	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	768	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						TGGCACCCACCTTCCCGGGCC	0.632		NaN											0	0	0	0.028581	0	15	120				
SORL1	6653	broad.mit.edu	37	11	121481797	121481797	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:121481797C>T	uc001pxx.2	+	39	5332	c.5252C>T	c.(5251-5253)CCA>CTA	p.P1751L	SORL1_uc010rzp.1_Missense_Mutation_p.P597L|SORL1_uc010rzq.1_Missense_Mutation_p.P366L	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1751	Extracellular (Potential).|Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCACCACCAGATATCCAC	0.418		NaN											0	0	0	0.012213	0	29	55				
C11orf63	79864	broad.mit.edu	37	11	122756598	122756598	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:122756598C>A	uc001pym.2	+	2	338	c.41C>A	c.(40-42)TCT>TAT	p.S14Y	C11orf63_uc001pyl.1_Missense_Mutation_p.S14Y	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	14										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTATTCAATCTCCTGTCCTT	0.393		NaN											1	0	4.26978e-12	0.01892	4.71455e-12	21	63				
ARID2	196528	broad.mit.edu	37	12	46245523	46245523	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:46245523C>T	uc001ros.1	+	15	3617	c.3617C>T	c.(3616-3618)ACG>ATG	p.T1206M	ARID2_uc001ror.2_Missense_Mutation_p.T1206M|ARID2_uc009zkg.1_Missense_Mutation_p.T662M|ARID2_uc009zkh.1_Missense_Mutation_p.T833M|ARID2_uc001rou.1_Missense_Mutation_p.T540M	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1206					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATGAGCGGAACGCAGACAGGA	0.488		NaN											0	0	0	0.016723	0	13	15		Valid		
HOXC13	3229	broad.mit.edu	37	12	54339012	54339012	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:54339012C>T	uc001sei.2	+	2	1080	c.965C>T	c.(964-966)TCG>TTG	p.S322L	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	322						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GTCAGCAAATCGAAAGCGCCT	0.577		NaN	T	NUP98	AML								0	0	0	0.016723	0	13	189				
UBE3B	89910	broad.mit.edu	37	12	109927742	109927742	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:109927742C>T	uc001top.2	+	8	1166	c.563C>T	c.(562-564)GCG>GTG	p.A188V	UBE3B_uc001toq.2_Missense_Mutation_p.A188V|UBE3B_uc001tol.1_Missense_Mutation_p.A188V|UBE3B_uc001tom.2_Missense_Mutation_p.A188V|UBE3B_uc001ton.2_Missense_Mutation_p.A188V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A188V|UBE3B_uc001tor.2_Missense_Mutation_p.A188V	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	188					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CTTCGACCAGCGATGAACCAC	0.443		NaN											0	0	0	0.00499	0	15	188				
KDM2B	84678	broad.mit.edu	37	12	121882333	121882333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr12:121882333C>A	uc001uat.2	-	15	2214	c.2110G>T	c.(2110-2112)GAG>TAG	p.E704*	KDM2B_uc001uaq.2_Nonsense_Mutation_p.E144*|KDM2B_uc010szy.1_Nonsense_Mutation_p.E144*|KDM2B_uc001uar.2_Nonsense_Mutation_p.E295*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E673*|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'Flank|KDM2B_uc010szx.1_5'Flank|KDM2B_uc001uap.2_5'Flank	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	704	PHD-type.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCCTCTGACTCCTTAATCTGC	0.602		NaN											1	0	0.00400662	0.028581	0.00420497	14	101				
OTUD7A	161725	broad.mit.edu	37	15	31818621	31818621	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:31818621G>A	uc001zfq.2	-	6	896	c.803C>T	c.(802-804)ACG>ATG	p.T268M	OTUD7A_uc001zfr.2_Missense_Mutation_p.T275M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	268	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGCAGCTCCGTCCACTCCCG	0.682		NaN											0	0	0	0.004482	0	7	35				
ARHGAP11A	9824	broad.mit.edu	37	15	32929352	32929352	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:32929352A>T	uc001zgy.1	+	12	3100	c.2378A>T	c.(2377-2379)AAA>ATA	p.K793I	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.K604I|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.K604I	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	793					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACATGTGAGAAAACAGTTTCT	0.348		NaN											0	0	0	0.024245	0	14	49				
WDR72	256764	broad.mit.edu	37	15	53994342	53994342	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:53994342C>T	uc002acj.2	-	12	1600	c.1558G>A	c.(1558-1560)GAG>AAG	p.E520K	WDR72_uc010bfi.1_Missense_Mutation_p.E520K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	520	WD 7.									lung(1)|skin(1)	2				all cancers(107;0.0511)		TTAAACTTCTCTGGTGACATC	0.294		NaN											0	0	0	0.010729	0	10	64				
LDHAL6B	92483	broad.mit.edu	37	15	59499546	59499546	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:59499546C>G	uc002agb.2	+	1	505	c.407C>G	c.(406-408)GCA>GGA	p.A136G	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	TTTGTCACAGCAAACTCCAAC	0.433		NaN											0	0	0	0.027356	0	26	80				
CYP11A1	1583	broad.mit.edu	37	15	74637457	74637457	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr15:74637457G>A	uc002axt.2	-	3	708	c.553C>T	c.(553-555)CGC>TGC	p.R185C	CYP11A1_uc002axs.2_Missense_Mutation_p.R27C|CYP11A1_uc010bjm.1_Missense_Mutation_p.R27C|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.R185C|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Missense_Mutation_p.R185C	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	185					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TTCTTGATGCGCCTGTGCAGG	0.582		NaN											0	0	0	0.014758	0	4	69				
RBBP6	5930	broad.mit.edu	37	16	24573026	24573026	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:24573026T>G	uc002dmh.2	+	9	1981	c.941T>G	c.(940-942)TTT>TGT	p.F314C	RBBP6_uc010vcb.1_Missense_Mutation_p.F181C|RBBP6_uc002dmi.2_Missense_Mutation_p.F314C|RBBP6_uc010bxr.2_Missense_Mutation_p.F314C|RBBP6_uc002dmk.2_Missense_Mutation_p.F181C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	314					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GCCAATAAATTTTTACGACAG	0.333		NaN											0	0	0	0.014758	0	5	60				
ZNF629	23361	broad.mit.edu	37	16	30794836	30794836	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:30794836G>A	uc002dzs.1	-	3	1021	c.813C>T	c.(811-813)TTC>TTT	p.F271F		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	271	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCTGCGGTAGAAAGCCCGGC	0.632		NaN											0	0	0	0.020292	0	13	33				
CMTM2	146225	broad.mit.edu	37	16	66621938	66621938	+	Silent	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:66621938A>G	uc002ept.2	+	4	823	c.663A>G	c.(661-663)AAA>AAG	p.K221K	CMTM2_uc010cdu.2_Silent_p.K168K	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	221					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GAAAGGAAAAAGGACCCCAGC	0.522		NaN											0	0	0	0.004672	0	3	73				
AP1G1	164	broad.mit.edu	37	16	71798289	71798289	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr16:71798289C>G	uc010cgg.2	-	9	1196	c.882G>C	c.(880-882)TTG>TTC	p.L294F	AP1G1_uc002fba.2_Missense_Mutation_p.L297F|AP1G1_uc002fbb.2_Missense_Mutation_p.L317F|AP1G1_uc010vmg.1_RNA	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	294					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				CCATGATAGTCAAAACCGTTT	0.363		NaN											0	0	0	0.00308	0	7	31				
GEMIN4	50628	broad.mit.edu	37	17	650821	650821	+	Silent	SNP	G	G	A	rs151264305	by1000genomes	TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:650821G>A	uc002frs.1	-	2	581	c.462C>T	c.(460-462)GCC>GCT	p.A154A	GEMIN4_uc010vqa.1_Silent_p.A154A	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	154					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACGTCTTCGGCAGAAGTGT	0.567		NaN											0	0	0	0.00308	0	7	75				
DLG4	1742	broad.mit.edu	37	17	7094110	7094110	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:7094110C>T	uc002get.3	-	22	3422	c.2221G>A	c.(2221-2223)GAG>AAG	p.E741K	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E638K|DLG4_uc010cly.2_Missense_Mutation_p.E695K|DLG4_uc010vto.1_Missense_Mutation_p.E738K	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	698	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						TAGATCTCCTCAAAGCTGTCA	0.557		NaN											0	0	0	0.01892	0	23	58				
MYH10	4628	broad.mit.edu	37	17	8393774	8393774	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:8393774C>G	uc002gll.2	-	33	4771	c.4675G>C	c.(4675-4677)GAA>CAA	p.E1559Q	MYH10_uc002glm.2_Missense_Mutation_p.E1590Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1568Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1559	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTGGCATCTTCCGTGGCCTGG	0.542		NaN											0	0	0	0.009096	0	3	96				
MYH10	4628	broad.mit.edu	37	17	8449973	8449973	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:8449973C>T	uc002gll.2	-	11	1233	c.1137G>A	c.(1135-1137)CAG>CAA	p.Q379Q	MYH10_uc002glm.2_Silent_p.Q389Q|MYH10_uc010cnx.2_Silent_p.Q388Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	379	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GGCAGAGCTTCTGCGCAACTG	0.418		NaN											0	0	0	0.010729	0	9	28				
MPRIP	23164	broad.mit.edu	37	17	17083384	17083384	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:17083384C>T	uc002gqu.1	+	22	3083	c.3027C>T	c.(3025-3027)CTC>CTT	p.L1009L	MPRIP_uc002gqv.1_Silent_p.L1009L|MPRIP_uc002gqw.1_Silent_p.L764L|MPRIP_uc002gqx.1_Silent_p.L1238L|MPRIP_uc002gqy.1_Silent_p.L1238L|MPRIP_uc010cpl.1_Silent_p.L195L|MPRIP_uc010cpm.1_Silent_p.L195L	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	1009						cytoplasm|cytoskeleton	actin binding				0						CCCGGCAACTCAGAAACATCA	0.488		NaN											0	0	0	0.021553	0	5	25				
MPRIP	23164	broad.mit.edu	37	17	17083388	17083388	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:17083388A>C	uc002gqu.1	+	22	3087	c.3031A>C	c.(3031-3033)AAC>CAC	p.N1011H	MPRIP_uc002gqv.1_Missense_Mutation_p.N1011H|MPRIP_uc002gqw.1_Missense_Mutation_p.N766H|MPRIP_uc002gqx.1_Missense_Mutation_p.N1240H|MPRIP_uc002gqy.1_Missense_Mutation_p.N1240H|MPRIP_uc010cpl.1_Missense_Mutation_p.N197H|MPRIP_uc010cpm.1_Missense_Mutation_p.N197H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	1011						cytoplasm|cytoskeleton	actin binding				0						GCAACTCAGAAACATCAGGTC	0.493		NaN											0	0	0	0.021553	0	5	25				
ZNF207	7756	broad.mit.edu	37	17	30696342	30696342	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:30696342A>G	uc002hhh.3	+	10	1293	c.1145A>G	c.(1144-1146)TAT>TGT	p.Y382C	ZNF207_uc002hhj.3_Missense_Mutation_p.Y398C|ZNF207_uc002hhi.3_Missense_Mutation_p.Y367C|ZNF207_uc010csz.2_Missense_Mutation_p.Y401C|ZNF207_uc002hhk.1_Missense_Mutation_p.Y398C|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTACCTAAGTATCAACGTAAT	0.502		NaN											0	0	0	0.007291	0	24	32				
CDK5R1	8851	broad.mit.edu	37	17	30815244	30815244	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:30815244C>T	uc002hhn.2	+	2	827	c.606C>T	c.(604-606)GTC>GTT	p.V202V	CDK5R1_uc010wca.1_Silent_p.V202V|CDK5R1_uc010ctc.2_Intron	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	202					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAACGTGGTCTTCCTCTACA	0.642		NaN											0	0	0	0.020292	0	14	91				
TBX4	9496	broad.mit.edu	37	17	59534930	59534930	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr17:59534930G>C	uc002izi.2	+	2	264	c.219G>C	c.(217-219)GAG>GAC	p.E73D	TBX4_uc010ddo.2_Missense_Mutation_p.E73D|TBX4_uc010woy.1_Missense_Mutation_p.E73D	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	73	T-box.				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GGCTGCATGAGAAGGAGCTCT	0.597		NaN											0	0	0	0.004482	0	6	56				
POLRMT	5442	broad.mit.edu	37	19	630113	630113	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:630113C>T	uc002lpf.1	-	3	305	c.249G>A	c.(247-249)GTG>GTA	p.V83V		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	83					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCCTGTTCACCACCACCT	0.672		NaN											0	0	0	0.007413	0	18	86				
ATP8B3	148229	broad.mit.edu	37	19	1789016	1789016	+	Silent	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:1789016C>G	uc002ltw.2	-	24	3183	c.2949G>C	c.(2947-2949)CTG>CTC	p.L983L	ATP8B3_uc002ltv.2_Silent_p.L946L|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	983	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGTGCACCAGCAGGAGGC	0.632		NaN											0	0	0	0.021553	0	5	11				
MUC16	94025	broad.mit.edu	37	19	9018160	9018160	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:9018160T>C	uc002mkp.2	-	25	37982	c.37778A>G	c.(37777-37779)TAC>TGC	p.Y12593C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12595	SEA 4.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCAGCCAGAGTACAGAAGGCC	0.537		NaN											0	0	0	0.013726	0	29	99				
TSSK6	83983	broad.mit.edu	37	19	19626255	19626255	+	Translation_Start_Site	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:19626255C>T	uc002nmr.2	-	1	215	c.-18G>A	c.(-20--16)CCGTG>CCATG		TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6						multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						CTAGGGCGCACGGGGGGCAGG	0.652		NaN											0	0	0	0.008291	0	9	21				
ZNF677	342926	broad.mit.edu	37	19	53740952	53740952	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:53740952C>G	uc002qbf.1	-	5	1213	c.1028G>C	c.(1027-1029)GGA>GCA	p.G343A	ZNF677_uc002qbg.1_Missense_Mutation_p.G343A	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		AGGTTTCTCTCCAGTATGCAT	0.388		NaN											0	0	0	0.001984	0	6	41				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr19:57955885C>G	uc002qoq.2	+	3	1623	c.1369C>G	c.(1369-1371)CAG>GAG	p.Q457E	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	457	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423		NaN											0	0	0	0.009096	0	3	71				
SMEK2	57223	broad.mit.edu	37	2	55791550	55791550	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr2:55791550T>A	uc002rzc.2	-	15	2534	c.2159A>T	c.(2158-2160)GAT>GTT	p.D720V	SMEK2_uc002rzb.2_Missense_Mutation_p.D635V|SMEK2_uc002rzd.2_Missense_Mutation_p.D688V|SMEK2_uc002ryz.2_Missense_Mutation_p.D147V|SMEK2_uc002rza.2_Missense_Mutation_p.D504V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	720	Poly-Glu.					microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCTTCTTCATCTTCATTAAA	0.358		NaN											0	0	0	0.020292	0	13	27				
FAM119A	151194	broad.mit.edu	37	2	208477805	208477805	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr2:208477805C>T	uc002vcf.2	-	4	782	c.622G>A	c.(622-624)GAA>AAA	p.E208K	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.E208K|FAM119A_uc002vcg.3_Missense_Mutation_p.E208K	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	208						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		TTCTGTGCTTCGTAAATATGT	0.368		NaN											0	0	0	0.010504	0	21	70				
TGM6	343641	broad.mit.edu	37	20	2413265	2413265	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr20:2413265C>T	uc002wfy.1	+	13	2158	c.2097C>T	c.(2095-2097)ATC>ATT	p.I699I	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.552		NaN											0	0	0	0.00499	0	16	95				
CTCFL	140690	broad.mit.edu	37	20	56093885	56093885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr20:56093885G>A	uc010gix.1	-	4	1650	c.988C>T	c.(988-990)CGA>TGA	p.R330*	CTCFL_uc010giw.1_Nonsense_Mutation_p.R330*|CTCFL_uc002xym.2_Nonsense_Mutation_p.R330*|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gje.2_Nonsense_Mutation_p.R330*|CTCFL_uc010gjf.2_Nonsense_Mutation_p.R125*|CTCFL_uc010gjg.2_Nonsense_Mutation_p.R62*|CTCFL_uc010gjh.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gji.1_Nonsense_Mutation_p.R125*|CTCFL_uc010gjj.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjk.1_Nonsense_Mutation_p.R330*|CTCFL_uc010gjl.1_Nonsense_Mutation_p.R330*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	330	C2H2-type 3.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CGCCTGTGTCGGACGAGTTCT	0.433		NaN											0	0	0	0.00308	0	7	96				
SYNJ1	8867	broad.mit.edu	37	21	34011221	34011221	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr21:34011221C>T	uc002yqh.2	-	31	4029	c.4029G>A	c.(4027-4029)CCG>CCA	p.P1343P	SYNJ1_uc011ads.1_Silent_p.P1257P|SYNJ1_uc002yqf.2_Silent_p.P1288P|SYNJ1_uc002yqg.2_Silent_p.P1257P|SYNJ1_uc002yqi.2_Silent_p.P1343P|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1304	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.P1304P(1)		ovary(4)|skin(1)	5						GACTTACTTGCGGTTGTGAGG	0.408		NaN											0	0	0	0.00308	0	4	147				
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr22:42610592G>A	uc003bcj.1	-	1	854	c.720C>T	c.(718-720)TCC>TCT	p.S240S	TCF20_uc003bck.1_Silent_p.S240S|TCF20_uc003bnt.2_Silent_p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						aggaggaggaggaAGCAGAAG	0.443		NaN											0	0	0	0.004672	0	3	45				
COL7A1	1294	broad.mit.edu	37	3	48623808	48623808	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:48623808C>G	uc003ctz.2	-	26	3508	c.3507G>C	c.(3505-3507)TTG>TTC	p.L1169F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1169	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTCACCTCTCAAGGGTTCAT	0.587		NaN											0	0	0	0.01441	0	68	200				
MON1A	84315	broad.mit.edu	37	3	49947848	49947848	+	Silent	SNP	G	G	A	rs151189958		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:49947848G>A	uc003cxz.2	-	4	1500	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G	MON1A_uc003cya.2_Silent_p.G296G|MON1A_uc003cyb.2_Silent_p.G296G	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	361							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCAGGCCTCGCCCTCGCGAA	0.597		NaN											0	0	0	0.004482	0	8	43				
FLNB	2317	broad.mit.edu	37	3	58154337	58154337	+	Missense_Mutation	SNP	G	G	A	rs142229998		TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:58154337G>A	uc003djj.2	+	44	7534	c.7369G>A	c.(7369-7371)GGT>AGT	p.G2457S	FLNB_uc010hne.2_Missense_Mutation_p.G2488S|FLNB_uc003djk.2_Missense_Mutation_p.G2446S|FLNB_uc010hnf.2_Missense_Mutation_p.G2433S|FLNB_uc003djl.2_Missense_Mutation_p.G2277S|FLNB_uc003djm.2_Missense_Mutation_p.G2264S|uc003djn.2_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2457	Filamin 23.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTCAAATACGGTGGGCCCAA	0.532		NaN											0	0	0	0.024245	0	13	48				
PDZRN3	23024	broad.mit.edu	37	3	73433185	73433185	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:73433185G>A	uc003dpl.1	-	10	2628	c.2532C>T	c.(2530-2532)GAC>GAT	p.D844D	PDZRN3_uc011bgh.1_Silent_p.D501D|PDZRN3_uc010hoe.1_Silent_p.D542D|PDZRN3_uc011bgf.1_Silent_p.D561D|PDZRN3_uc011bgg.1_Silent_p.D564D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	844							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCGGCTCCCGTCGCTGGCTC	0.667		NaN											0	0	0	0.007291	0	28	38				
FXR1	8087	broad.mit.edu	37	3	180666136	180666136	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:180666136T>A	uc003fkq.2	+	5	294	c.272T>A	c.(271-273)TTT>TAT	p.F91Y	FXR1_uc003fkp.2_Missense_Mutation_p.F6Y|FXR1_uc003fkr.2_Missense_Mutation_p.F91Y|FXR1_uc011bqj.1_Missense_Mutation_p.F5Y|FXR1_uc003fks.2_Missense_Mutation_p.F5Y|FXR1_uc011bqk.1_Missense_Mutation_p.F42Y|FXR1_uc011bql.1_Missense_Mutation_p.F78Y	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	91					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTCTTTTAGTTTTATGTCATT	0.318		NaN											0	0	0	0.021553	0	4	25				
CDS1	1040	broad.mit.edu	37	4	85553028	85553028	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:85553028A>G	uc011ccv.1	+	6	1135	c.637A>G	c.(637-639)ATG>GTG	p.M213V	CDS1_uc010ike.1_Missense_Mutation_p.M17V	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	213					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GCAGTTTTATATGGTGTGTAT	0.338		NaN											0	0	0	0.006122	0	16	70				
PLK4	10733	broad.mit.edu	37	4	128807800	128807800	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:128807800C>A	uc003ifo.2	+	5	1520	c.1275C>A	c.(1273-1275)AAC>AAA	p.N425K	PLK4_uc011cgs.1_Missense_Mutation_p.N393K|PLK4_uc011cgt.1_Missense_Mutation_p.N384K	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	425					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CCACAGACAACAATGCCAACA	0.368		NaN											1	0	0.004672	0.004672	0.00485522	3	37				
TLR3	7098	broad.mit.edu	37	4	187005188	187005188	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr4:187005188C>G	uc003iyq.2	+	4	2449	c.2348C>G	c.(2347-2349)TCT>TGT	p.S783C	TLR3_uc011ckz.1_Missense_Mutation_p.S506C|TLR3_uc003iyr.2_Missense_Mutation_p.S506C	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	783	Cytoplasmic (Potential).|TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAAGACCAATCTCTCAAATTT	0.353		NaN											0	0	0	0.00499	0	17	61				
PAIP1	10605	broad.mit.edu	37	5	43556029	43556029	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr5:43556029A>T	uc003job.2	-	2	585	c.338T>A	c.(337-339)ATG>AAG	p.M113K	PAIP1_uc003joa.2_Missense_Mutation_p.M34K|PAIP1_uc010ivp.2_Missense_Mutation_p.M34K|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.M1K	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	113					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					GGGCTTAGCCATTGCTGACTC	0.473		NaN											0	0	0	0.01441	0	62	60		Valid		
ATXN1	6310	broad.mit.edu	37	6	16327275	16327275	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:16327275G>A	uc003nbt.2	-	8	2238	c.1267C>T	c.(1267-1269)CAC>TAC	p.H423Y	ATXN1_uc010jpi.2_Missense_Mutation_p.H423Y|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	423					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TAGGACCGGTGGCCAGGCTTC	0.622		NaN											0	0	0	0.01441	0	75	80				
TCTE1	202500	broad.mit.edu	37	6	44255546	44255546	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:44255546G>A	uc003oxi.2	-	2	173	c.17C>T	c.(16-18)ACG>ATG	p.T6M	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	6										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGATGTCGTTACGGTATC	0.557		NaN											0	0	0	0.004482	0	6	24				
C6orf174	387104	broad.mit.edu	37	6	127796588	127796588	+	Silent	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:127796588G>A	uc003qbd.2	-	6	3448	c.2583C>T	c.(2581-2583)GAC>GAT	p.D861D	C6orf174_uc003qbc.2_Translation_Start_Site	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	861						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TGCGGCTGCCGTCGTCCTCCT	0.642		NaN											0	0	0	0.024334	0	25	47				
GRM1	2911	broad.mit.edu	37	6	146720574	146720574	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:146720574C>A	uc010khw.1	+	8	2869	c.2399C>A	c.(2398-2400)GCT>GAT	p.A800D	GRM1_uc010khv.1_Missense_Mutation_p.A800D|GRM1_uc003qll.2_Missense_Mutation_p.A800D|GRM1_uc011edz.1_Missense_Mutation_p.A800D|GRM1_uc011eea.1_Missense_Mutation_p.A800D	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	800	Helical; Name=6; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCTGGCTAGCTTTTGTGCCC	0.493		NaN											1	0	2.47511e-08	0.008361	2.67716e-08	26	69				
STXBP5	134957	broad.mit.edu	37	6	147527160	147527160	+	Silent	SNP	A	A	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:147527160A>G	uc003qlz.2	+	2	365	c.204A>G	c.(202-204)GTA>GTG	p.V68V	uc003qlt.1_5'Flank|uc003qlu.1_5'Flank|STXBP5_uc010khz.1_Silent_p.V68V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	68	WD 1.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTGATCCTGTACAGAAGATCC	0.463		NaN											0	0	0	0.007835	0	35	25				
SYNE1	23345	broad.mit.edu	37	6	152675920	152675920	+	Silent	SNP	C	C	T	rs114858512	byFrequency	TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:152675920C>T	uc010kiw.2	-	67	11402	c.10800G>A	c.(10798-10800)TTG>TTA	p.L3600L	SYNE1_uc003qot.3_Silent_p.L3607L|SYNE1_uc003qou.3_Silent_p.L3600L|SYNE1_uc010kja.1_Silent_p.L305L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3600	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATTAGCCTCAATTTGTTCA	0.502		NaN								HNSCC(10;0.0054)			0	0	0	0.00499	0	17	60				
GPR31	2853	broad.mit.edu	37	6	167570440	167570440	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr6:167570440G>A	uc011egq.1	-	1	880	c.880C>T	c.(880-882)CGG>TGG	p.R294W		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	294	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AAGACCCTCCGATAGGAGCTC	0.597		NaN											0	0	0	0.004672	0	3	33				
ZNF716	441234	broad.mit.edu	37	7	57522240	57522240	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:57522240G>T	uc011kdi.1	+	2	226	c.114G>T	c.(112-114)CAG>CAT	p.Q38H		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						ATGCTCAGCAGAATTTATATA	0.373		NaN											1	0	0.000274275	0.004482	0.000293668	5	57				
SPDYE3	441272	broad.mit.edu	37	7	99917269	99917269	+	Silent	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:99917269T>C	uc003uug.1	+	4	537	c.297T>C	c.(295-297)TCT>TCC	p.S99S	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	476											0						AGACCCACTCTCACATACCCT	0.532		NaN											0	0	0	0.01892	0	24	57				
ASB15	142685	broad.mit.edu	37	7	123269135	123269135	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:123269135G>A	uc003vku.1	+	10	1379	c.1087G>A	c.(1087-1089)GTT>ATT	p.V363I	ASB15_uc003vkw.1_Missense_Mutation_p.V363I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	363	ANK 7.				intracellular signal transduction					skin(2)|lung(1)	3						TAATAATGACGTTCATTGCAC	0.438		NaN											0	0	0	0.021022	0	35	41				
ZNF212	7988	broad.mit.edu	37	7	148950982	148950982	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:148950982G>C	uc003wfp.2	+	5	1060	c.964G>C	c.(964-966)GAG>CAG	p.E322Q		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	322	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TTCTGAGTGTGAGATCACCTT	0.567		NaN											0	0	0	0.009096	0	4	43				
MLL3	58508	broad.mit.edu	37	7	151962241	151962241	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:151962241G>C	uc003wla.2	-	8	1285	c.1066C>G	c.(1066-1068)CAG>GAG	p.Q356E		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	356	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAAAAGAACTGATCTAAGAGG	0.413		NaN	N		medulloblastoma								0	0	0	0.028581	0	12	271		Invalid		
TEX15	56154	broad.mit.edu	37	8	30704505	30704505	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr8:30704505C>T	uc003xil.2	-	1	2029	c.2029G>A	c.(2029-2031)GAA>AAA	p.E677K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	677										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTCAATTTCACTTTCCAAT	0.289		NaN											0	0	0	0.00308	0	6	19				
CYP11B2	1585	broad.mit.edu	37	8	143994845	143994845	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr8:143994845G>A	uc003yxk.1	-	6	980	c.977C>T	c.(976-978)ACG>ATG	p.T326M		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	326					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTCAAAGAGCGTCATCAGCAA	0.627		NaN							Familial_Hyperaldosteronism_type_I				0	0	0	0.01441	0	43	69				
RFX3	5991	broad.mit.edu	37	9	3277363	3277363	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:3277363C>T	uc003zhr.2	-	9	1262	c.950G>A	c.(949-951)AGC>AAC	p.S317N	RFX3_uc010mhd.2_Missense_Mutation_p.S317N|RFX3_uc003zhs.1_Missense_Mutation_p.S317N|RFX3_uc003zht.1_Missense_Mutation_p.S317N|RFX3_uc010mhe.1_Missense_Mutation_p.S292N	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	317					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATGATGTTGGCTTTGGGCAAT	0.403		NaN											0	0	0	0.013726	0	32	67				
CEP110	11064	broad.mit.edu	37	9	123921142	123921142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:123921142C>T	uc004bkx.1	+	29	4805	c.4774C>T	c.(4774-4776)CAG>TAG	p.Q1592*	CEP110_uc010mvo.1_Nonsense_Mutation_p.Q261*|CEP110_uc004blb.1_Nonsense_Mutation_p.Q261*|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1592	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GGTGACAAGTCAGCAGCAGGA	0.463		NaN											0	0	0	0.01441	0	70	13				
ARPC5L	81873	broad.mit.edu	37	9	127637310	127637310	+	Silent	SNP	T	T	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:127637310T>C	uc004bpa.3	+	3	365	c.279T>C	c.(277-279)ATT>ATC	p.I93I	ARPC5L_uc011lzq.1_Silent_p.I41I	NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit	93					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding				0						GCAGTGAGATTGAGCAGGCTG	0.502		NaN											0	0	0	0.00308	0	5	90				
TTC16	158248	broad.mit.edu	37	9	130485503	130485503	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:130485503C>T	uc004brq.1	+	7	830	c.763C>T	c.(763-765)CGC>TGC	p.R255C	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.R242C|TTC16_uc004brr.1_Missense_Mutation_p.R200C|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	255	TPR 4.						binding				0						CCAGCAGGCGCGCCAAGATGC	0.642		NaN											0	0	0	0.013114	0	45	6				
LRRC8A	56262	broad.mit.edu	37	9	131669702	131669702	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131669702C>T	uc004bwl.3	+	3	513	c.259C>T	c.(259-261)CTG>TTG	p.L87L	LRRC8A_uc010myp.2_Silent_p.L87L|LRRC8A_uc010myq.2_Silent_p.L87L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	87					pre-B cell differentiation	integral to membrane					0						CTCCACCATTCTGCCGACCCC	0.617		NaN											0	0	0	0.01441	0	59	10				
LRRC8A	56262	broad.mit.edu	37	9	131670421	131670421	+	Silent	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131670421C>T	uc004bwl.3	+	3	1232	c.978C>T	c.(976-978)ATC>ATT	p.I326I	LRRC8A_uc010myp.2_Silent_p.I326I|LRRC8A_uc010myq.2_Silent_p.I326I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	326	Helical; (Potential).				pre-B cell differentiation	integral to membrane					0						CCTTCTACATCAGCCTAGTCA	0.567		NaN											0	0	0	0.01441	0	71	11				
LRRC8A	56262	broad.mit.edu	37	9	131671081	131671081	+	Silent	SNP	C	C	G			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:131671081C>G	uc004bwl.3	+	3	1892	c.1638C>G	c.(1636-1638)CTC>CTG	p.L546L	LRRC8A_uc010myp.2_Silent_p.L546L|LRRC8A_uc010myq.2_Silent_p.L546L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	546	LRR 8.				pre-B cell differentiation	integral to membrane					0						TCAAACGCCTCAAGGTGCTGC	0.592		NaN											0	0	0	0.007291	0	28	4				
USP20	10868	broad.mit.edu	37	9	132620365	132620365	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr9:132620365G>A	uc004bys.2	+	5	383	c.172G>A	c.(172-174)GCT>ACT	p.A58T	USP20_uc004byr.2_Missense_Mutation_p.A58T|USP20_uc004byt.1_Missense_Mutation_p.A58T	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	58	UBP-type.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				AGAATCCTTTGCTGACCACAG	0.368		NaN											0	0	0	0.010771	0	37	51				
CXCR3	2833	broad.mit.edu	37	X	70836460	70836460	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:70836460G>A	uc004eaf.2	-	2	930	c.862C>T	c.(862-864)CGC>TGC	p.R288C	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.R335C	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	288	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					CCACAGTTGCGGGCCAAAGCG	0.632		NaN											0	0	0	0.006122	0	16	16				
STAG2	10735	broad.mit.edu	37	X	123217380	123217380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:123217380C>T	uc004etz.3	+	28	3373	c.3034C>T	c.(3034-3036)CGA>TGA	p.R1012*	STAG2_uc004eua.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eub.2_Nonsense_Mutation_p.R1012*|STAG2_uc004euc.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eud.2_Nonsense_Mutation_p.R1012*|STAG2_uc004eue.2_Nonsense_Mutation_p.R1012*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1012					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TAAACTACTTCGACAAGACAA	0.343		NaN											0	0	0	0.01441	0	34	0		Valid		
GPC3	2719	broad.mit.edu	37	X	132670204	132670204	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrX:132670204A>C	uc004exe.1	-	8	1881	c.1691T>G	c.(1690-1692)CTT>CGT	p.L564R	GPC3_uc004exd.1_Missense_Mutation_p.L436R|GPC3_uc010nrn.1_Missense_Mutation_p.L587R|GPC3_uc011mvh.1_Missense_Mutation_p.L548R|GPC3_uc010nro.1_Missense_Mutation_p.L510R	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	564						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GCTGGTGAGAAGCTTCAGCGG	0.562		NaN	T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				0	0	0	0.01441	0	57	3				
TBL1Y	90665	broad.mit.edu	37	Y	6911149	6911149	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chrY:6911149G>C	uc004frb.2	+	7	834	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	TBL1Y_uc004frc.2_Missense_Mutation_p.E63Q|TBL1Y_uc004frd.2_Missense_Mutation_p.E63Q|TBL1Y_uc011nap.1_5'UTR	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	63	F-box-like.				transcription, DNA-dependent						0						TGTAGAGGCTGAGATAAGCAT	0.527		NaN											0	0	0	0.010729	0	10	62				
TNFRSF1B	7133	broad.mit.edu	37	1	12253005	12253005	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:12253005G>C	uc001att.2	+	6	726	c.637G>C	c.(637-639)GCA>CCA	p.A213P	TNFRSF1B_uc001atu.2_Missense_Mutation_p.A18P|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	213	Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGCCCCAGGGGCAGTACACTT	0.617		NaN											0	0	0	0.069288	0	19	54				
ACTL8	81569	broad.mit.edu	37	1	18152501	18152501	+	Silent	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:18152501C>G	uc001bat.2	+	3	804	c.588C>G	c.(586-588)CGC>CGG	p.R196R		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	196						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCGATAGACGCTGCCTGTTTC	0.597		NaN									OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.080935	0	11	63				
RIMS3	9783	broad.mit.edu	37	1	41101634	41101634	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:41101634G>A	uc001cfu.1	-	4	782	c.313C>T	c.(313-315)CGG>TGG	p.R105W	RIMS3_uc001cfv.1_Missense_Mutation_p.R105W	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	105					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGGACTCCCGGCTGCCCTGG	0.682		NaN											0	0	0	0.038147	0	7	91				
ELAVL4	1996	broad.mit.edu	37	1	50666658	50666658	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:50666658T>C	uc001csb.2	+	7	1219	c.951T>C	c.(949-951)TTT>TTC	p.F317F	ELAVL4_uc001cry.3_Silent_p.F306F|ELAVL4_uc001crz.3_Silent_p.F303F|ELAVL4_uc001csa.3_Silent_p.F320F|ELAVL4_uc001csc.3_Silent_p.F303F|ELAVL4_uc010omz.1_Silent_p.F308F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	317	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGCAGCTCTTTGGCCCCTTTG	0.507		NaN											0	0	0	0.050027	0	34	123				
LHX8	431707	broad.mit.edu	37	1	75622760	75622760	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:75622760T>A	uc001dgo.2	+	9	1657	c.993T>A	c.(991-993)GAT>GAA	p.D331E	LHX8_uc001dgq.2_Missense_Mutation_p.D270E	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	331						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GTTATATGGATGGTAGGTATC	0.418		NaN											0	0	0	0.048971	0	57	58				
HFM1	164045	broad.mit.edu	37	1	91739336	91739336	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:91739336C>A	uc001doa.3	-	34	3805	c.3705G>T	c.(3703-3705)ATG>ATT	p.M1235I	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.M914I|HFM1_uc001dob.3_Missense_Mutation_p.M423I|HFM1_uc010osv.1_Missense_Mutation_p.M919I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1235							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCCACTGCTCCATTATAGGCA	0.308		NaN											1	0	2.31682e-05	0.024245	2.39517e-05	14	164				
LPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:99772549C>A	uc001dse.2	+	7	2381	c.2275C>A	c.(2275-2277)CGG>AGG	p.R759R	LPPR4_uc010oue.1_Silent_p.R701R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	759							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCCCCACACGGGCTTATAA	0.458		NaN											1	0	3.82636e-28	0.048971	4.42617e-28	83	111				
S1PR1	1901	broad.mit.edu	37	1	101704696	101704697	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:101704696_101704697CA>AT	uc001dud.2	+	2	670_671	c.156_157CA>AT	c.(154-159)TTCATT>TTATTT	p.52_53FI>LF	S1PR1_uc009weg.2_Missense_Mutation_p.52_53FI>LF	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52_53	Helical; Name=1; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CGGTGGTGTTCATTCTCATCTG	0.436		NaN									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	55	107				
GPR61	83873	broad.mit.edu	37	1	110085756	110085756	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:110085756G>T	uc001dxy.2	+	2	795	c.112G>T	c.(112-114)GAT>TAT	p.D38Y		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	38	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGCTACGGGATGTTGCTTC	0.612		NaN											1	0	1.39806e-14	0.037714	1.52645e-14	32	206				
BGLAP	632	broad.mit.edu	37	1	156212941	156212941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:156212941C>A	uc001fnt.2	+	4	363	c.291C>A	c.(289-291)TAC>TAA	p.Y97*	BGLAP_uc001fns.1_3'UTR	NM_199173	NP_954642	P02818	OSTCN_HUMAN	osteocalcin preproprotein	97	Gla.				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone				0	Hepatocellular(266;0.158)				Phytonadione(DB01022)	GGCGCTTCTACGGCCCGGTCT	0.637		NaN											1	0	8.72198e-27	0.048971	1.0035e-26	48	143				
SPTA1	6708	broad.mit.edu	37	1	158631163	158631163	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158631163C>T	uc001fst.1	-	18	2700	c.2501G>A	c.(2500-2502)AGG>AAG	p.R834K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	834	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GACTCTATGCCTATTCAGAAG	0.423		NaN											0	0	0	0.074837	0	36	140				
OR6K2	81448	broad.mit.edu	37	1	158670235	158670236	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158670235_158670236CC>AG	uc001fsu.1	-	1	207_208	c.207_208GG>CT	c.(205-210)CTGGAG>CTCTAG	p.E70*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TACCAAATCTCCAGGAAAGAAA	0.436		NaN											0	0	0	0.004672	0	11	62				
OR6N1	128372	broad.mit.edu	37	1	158736303	158736303	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158736303G>A	uc010piq.1	-	1	170	c.170C>T	c.(169-171)ACA>ATA	p.T57I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GTACATGGGTGTGTGAAGCCG	0.483		NaN											0	0	0	0.034045	0	29	98				
MR1	3140	broad.mit.edu	37	1	181018369	181018369	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181018369G>A	uc001goq.1	+	2	254	c.249G>A	c.(247-249)AGG>AGA	p.R83R	MR1_uc001gop.2_Silent_p.R83R|MR1_uc001gor.1_Silent_p.R83R|MR1_uc001gos.1_Silent_p.R83R|MR1_uc010pns.1_Silent_p.R83R	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	83	Extracellular (Potential).|Ligand-binding.|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						ACTGGGAGAGGTACACTCAGC	0.582		NaN											0	0	0	0.105934	0	14	47				
CACNA1E	777	broad.mit.edu	37	1	181725138	181725138	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181725138C>T	uc001gow.2	+	29	4201	c.4036C>T	c.(4036-4038)CGG>TGG	p.R1346W	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1234W|CACNA1E_uc001gox.1_Missense_Mutation_p.R572W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R572W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1346	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GGTGAAGGGCCGGGAATGGAA	0.493		NaN											0	0	0	0.09319	0	11	51				
TROVE2	6738	broad.mit.edu	37	1	193038543	193038543	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:193038543G>A	uc001gss.2	+	2	534	c.359G>A	c.(358-360)CGC>CAC	p.R120H	TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.R120H|TROVE2_uc001gsw.2_Missense_Mutation_p.R120H|TROVE2_uc009wyp.2_Missense_Mutation_p.R120H|TROVE2_uc009wyq.2_Missense_Mutation_p.R120H|TROVE2_uc001gsx.1_Missense_Mutation_p.R120H	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	120	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						GAAGTTTGTCGCATTCCTACC	0.448		NaN											0	0	0	0.099896	0	26	66				
CFH	3075	broad.mit.edu	37	1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:196658607G>A	uc001gtj.3	+	8	1262	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	CFH_uc001gti.3_Missense_Mutation_p.R341H|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277H	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	341	Sushi 6.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GAGAATATGCGTAGACCATAC	0.323		NaN											0	0	0	0.062417	0	20	86				
MFSD4	148808	broad.mit.edu	37	1	205538365	205538365	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:205538365C>T	uc001hcv.3	+	1	254	c.168C>T	c.(166-168)GTC>GTT	p.V56V	MFSD4_uc010prk.1_Silent_p.V56V|MFSD4_uc010prl.1_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	56	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTCCTGGGTCTTCTTCTCGC	0.602		NaN											0	0	0	0.038147	0	6	14				
RBM17	84991	broad.mit.edu	37	10	6155497	6155497	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:6155497C>G	uc001ijb.2	+	9	1109	c.883C>G	c.(883-885)CCG>GCG	p.P295A	RBM17_uc010qav.1_Missense_Mutation_p.P295A|RBM17_uc001ijc.2_5'Flank	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	295					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						AGATTCAAATCCGCTGACTGA	0.408		NaN											0	0	0	0.104719	0	40	144				
ITGA8	8516	broad.mit.edu	37	10	15600156	15600156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15600156G>A	uc001ioc.1	-	26	2683	c.2683C>T	c.(2683-2685)CGA>TGA	p.R895*	ITGA8_uc010qcb.1_Nonsense_Mutation_p.R880*	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	895	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R895Q(1)		ovary(3)|lung(3)	6						GTAGAGTTTCGCAAAAAGGCG	0.473		NaN											0	0	0	0.028581	0	16	109				
ITGA8	8516	broad.mit.edu	37	10	15760853	15760853	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15760853G>A	uc001ioc.1	-	2	255	c.255C>T	c.(253-255)CCC>CCT	p.P85P	ITGA8_uc010qcb.1_Silent_p.P85P	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	85	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						CCACGATATCGGGCTGGCTGG	0.582		NaN											0	0	0	0.080422	0	35	114				
C10orf140	387640	broad.mit.edu	37	10	21804178	21804178	+	Silent	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:21804178A>T	uc009xkd.2	-	4	4827	c.2574T>A	c.(2572-2574)ATT>ATA	p.I858I	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	777						nucleus	nucleotide binding			ovary(1)	1						CATCTCTCCCAATAATGAGTG	0.453		NaN											0	0	0	0.0333	0	18	54				
CSGALNACT2	55454	broad.mit.edu	37	10	43662480	43662480	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:43662480C>T	uc001jan.2	+	6	1523	c.1188C>T	c.(1186-1188)TTC>TTT	p.F396F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	396	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						CTGTGGTGTTCAGTCTTTACA	0.373		NaN											0	0	0	0.038395	0	19	44				
FAM21C	253725	broad.mit.edu	37	10	46245583	46245583	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:46245583G>A	uc001jcu.2	+	9	871	c.772G>A	c.(772-774)GGC>AGC	p.G258S	FAM21C_uc001jcs.1_Missense_Mutation_p.G203S|FAM21C_uc001jct.2_Missense_Mutation_p.G258S|FAM21C_uc010qfi.1_Missense_Mutation_p.G258S	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	258										ovary(1)	1						GGATGATGATGGCTGTGACCT	0.388		NaN											0	0	0	0.099896	0	24	117				
ANK3	288	broad.mit.edu	37	10	61829047	61829047	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:61829047T>C	uc001jky.2	-	37	11784	c.11592A>G	c.(11590-11592)AAA>AAG	p.K3864K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3864					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTATGGGAAGTTTGGATTTTT	0.398		NaN											0	0	0	0.048971	0	108	328				
COL13A1	1305	broad.mit.edu	37	10	71677085	71677085	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:71677085C>T	uc001jpr.1	+	17	1528	c.992C>T	c.(991-993)GCC>GTC	p.A331V	COL13A1_uc001jqj.1_Missense_Mutation_p.A331V|COL13A1_uc001jps.1_Missense_Mutation_p.A302V|COL13A1_uc001jpt.1_Missense_Mutation_p.A290V|COL13A1_uc001jpu.1_Missense_Mutation_p.A312V|COL13A1_uc001jpv.1_Missense_Mutation_p.A331V|COL13A1_uc001jpx.1_Missense_Mutation_p.A309V|COL13A1_uc001jpw.1_Missense_Mutation_p.A278V|COL13A1_uc001jpy.1_Missense_Mutation_p.A269V|COL13A1_uc001jpz.1_Missense_Mutation_p.A274V|COL13A1_uc001jqa.1_Missense_Mutation_p.A271V|COL13A1_uc001jqc.1_Missense_Mutation_p.A331V|COL13A1_uc001jqb.1_Missense_Mutation_p.A280V|COL13A1_uc001jql.2_Missense_Mutation_p.A331V|COL13A1_uc001jqd.1_Missense_Mutation_p.A319V|COL13A1_uc001jqe.1_Missense_Mutation_p.A314V|COL13A1_uc001jqf.1_Missense_Mutation_p.A312V|COL13A1_uc001jqg.1_Missense_Mutation_p.A309V|COL13A1_uc001jqh.1_Missense_Mutation_p.A331V|COL13A1_uc001jqi.1_Missense_Mutation_p.A331V|COL13A1_uc010qjf.1_Missense_Mutation_p.A121V|COL13A1_uc001jqk.1_Missense_Mutation_p.A169V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	331	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCATGGAGCCAAGGTACCT	0.637		NaN											0	0	0	0.038147	0	8	46				
PAOX	196743	broad.mit.edu	37	10	135203207	135203207	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:135203207G>A	uc001lmv.2	+	6	1428	c.1348G>A	c.(1348-1350)GAC>AAC	p.D450N	PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	588					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGGCGACCTGGACCTGCTGGC	0.741		NaN											0	0	0	0.028581	0	14	44				
NELL1	4745	broad.mit.edu	37	11	21592405	21592405	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:21592405T>C	uc001mqe.2	+	18	2229	c.2076T>C	c.(2074-2076)AGT>AGC	p.S692S	NELL1_uc001mqf.2_Silent_p.S645S|NELL1_uc009yid.2_Silent_p.S720S|NELL1_uc010rdo.1_Silent_p.S635S|NELL1_uc010rdp.1_Silent_p.S405S|NELL1_uc001mqh.2_Silent_p.S237S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	692	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GAGTCACAAGTCAATGTTTAG	0.468		NaN											0	0	0	0.11126	0	38	138				
CCDC73	493860	broad.mit.edu	37	11	32635179	32635179	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:32635179A>G	uc001mtv.2	-	16	2729	c.2685T>C	c.(2683-2685)ACT>ACC	p.T895T		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	895										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					GAGTTTTCTCAGTTTTTTTAT	0.398		NaN											0	0	0	0.048971	0	72	227				
HIPK3	10114	broad.mit.edu	37	11	33360345	33360345	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:33360345G>A	uc001mul.1	+	5	1654	c.1384G>A	c.(1384-1386)GAA>AAA	p.E462K	HIPK3_uc001mum.1_Missense_Mutation_p.E462K|HIPK3_uc009yjv.1_Missense_Mutation_p.E462K|HIPK3_uc009yjw.1_RNA	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	462	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						GAAGTCTAAAGAAGCCAGAAA	0.358		NaN											0	0	0	0.045705	0	32	99				
TRIM48	79097	broad.mit.edu	37	11	55036744	55036744	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:55036744C>T	uc010rid.1	+	5	691	c.605C>T	c.(604-606)CCC>CTC	p.P202L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	186						intracellular	zinc ion binding				0						CTGCACATGCCCCAGCCTCTG	0.502		NaN											0	0	0	0.086207	0	35	74				
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56230095G>T	uc010rjj.1	-	1	783	c.783C>A	c.(781-783)CCC>CCA	p.P261P		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493		NaN											1	0	2.46105e-21	0.045705	2.80141e-21	33	79				
OR9G4	283189	broad.mit.edu	37	11	56510738	56510738	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56510738A>G	uc010rjo.1	-	1	550	c.550T>C	c.(550-552)TGT>CGT	p.C184R		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TTTTTACCACAAAAATGCAGG	0.453		NaN											0	0	0	0.104719	0	42	72				
OR4D6	219983	broad.mit.edu	37	11	59224536	59224536	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:59224536T>C	uc010rku.1	+	1	103	c.103T>C	c.(103-105)TAT>CAT	p.Y35H		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTTGCTGTGTATGTAGCAAC	0.458		NaN											0	0	0	0.048971	0	47	123				
SUV420H1	51111	broad.mit.edu	37	11	67942531	67942531	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:67942531T>C	uc001onm.1	-	5	753	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.Y166C|SUV420H1_uc001onp.2_Missense_Mutation_p.Y166C|SUV420H1_uc010rqa.1_Missense_Mutation_p.Y143C|SUV420H1_uc001onq.2_Missense_Mutation_p.Y166C	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GTTGAGAAAATAGTGCCGTGC	0.348		NaN											0	0	0	0.099896	0	23	48				
ARAP1	116985	broad.mit.edu	37	11	72412744	72412744	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:72412744T>C	uc001osu.2	-	16	2441	c.2252A>G	c.(2251-2253)TAC>TGC	p.Y751C	ARAP1_uc001osv.2_Missense_Mutation_p.Y751C|ARAP1_uc001osr.2_Missense_Mutation_p.Y511C|ARAP1_uc001oss.2_Missense_Mutation_p.Y506C|ARAP1_uc009yth.2_Missense_Mutation_p.Y445C|ARAP1_uc010rre.1_Missense_Mutation_p.Y506C|ARAP1_uc001osw.1_Missense_Mutation_p.Y39C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	751	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GGCAGTCTTGTAGAGGAAGCC	0.622		NaN											0	0	0	0.048971	0	48	143				
CNTN5	53942	broad.mit.edu	37	11	99941209	99941209	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:99941209C>A	uc001pga.2	+	11	1555	c.1216C>A	c.(1216-1218)CCT>ACT	p.P406T	CNTN5_uc009ywv.1_Missense_Mutation_p.P406T|CNTN5_uc001pfz.2_Missense_Mutation_p.P406T|CNTN5_uc001pgb.2_Missense_Mutation_p.P332T	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	406	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGGGAGCCCTCTCCGATG	0.463		NaN											1	0	3.45872e-05	0.028581	3.55849e-05	16	18				
RAD52	5893	broad.mit.edu	37	12	1034684	1034684	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:1034684C>A	uc001qis.1	-	7	589	c.475G>T	c.(475-477)GGG>TGG	p.G159W	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.G82W|RAD52_uc001qiu.1_Missense_Mutation_p.G159W|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.G159W|RAD52_uc001qix.1_Missense_Mutation_p.W209L	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	159					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGTGCATTCCCAAAACTCCTA	0.388		NaN						Homologous_recombination					1	0	5.35267e-07	0.043863	5.56054e-07	18	96				
SLC2A3	6515	broad.mit.edu	37	12	8083900	8083900	+	Silent	SNP	G	G	T	rs138143062		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:8083900G>T	uc001qtr.2	-	4	713	c.451C>A	c.(451-453)CGG>AGG	p.R151R	SLC2A3_uc001qts.2_Silent_p.R151R	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	151	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		AAGGCACCCCGCAGGGCAGTA	0.507		NaN											1	0	2.26627e-22	0.09836	2.59349e-22	41	93				
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:45269642C>T	uc001rog.2	-	1	606	c.11G>A	c.(10-12)CGG>CAG	p.R4Q	NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_Missense_Mutation_p.R4Q|NELL2_uc009zkd.2_5'UTR|NELL2_uc010skz.1_Missense_Mutation_p.R54Q|NELL2_uc010sla.1_Missense_Mutation_p.R27Q|NELL2_uc001roi.1_Missense_Mutation_p.R4Q|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.R4Q	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	4					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517		NaN											0	0	0	0.043863	0	18	99				
LRP1	4035	broad.mit.edu	37	12	57600372	57600372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:57600372G>A	uc001snd.2	+	76	12173	c.11707G>A	c.(11707-11709)GAT>AAT	p.D3903N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3903	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTCCGCATTGATGCTATGGA	0.597		NaN											0	0	0	0.059317	0	35	45				
C12orf12	196477	broad.mit.edu	37	12	91347836	91347836	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:91347836G>A	uc001tbj.2	-	1	1118	c.684C>T	c.(682-684)GCC>GCT	p.A228A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	228										central_nervous_system(1)|pancreas(1)	2						CGGAGGATCTGGCTGGGGAGG	0.627		NaN											0	0	0	0.048971	0	94	152				
PWP1	11137	broad.mit.edu	37	12	108082471	108082471	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:108082471C>T	uc001tmo.1	+	3	298	c.211C>T	c.(211-213)CGC>TGC	p.R71C	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.R71C	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	71					transcription, DNA-dependent	nucleus					0						CACCCAGGCACGCCCAAGAGA	0.517		NaN											0	0	0	0.050027	0	35	36				
CAMKK2	10645	broad.mit.edu	37	12	121706440	121706440	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:121706440C>T	uc001tzu.2	-	5	749	c.625_splice	c.e5+1	p.R209_splice	CAMKK2_uc001tzt.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.2_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.2_Splice_Site_p.R209_splice|CAMKK2_uc001uac.2_Splice_Site_p.R209_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCAAACTCACGTGGAAAGCC	0.488		NaN											0	0	0	0.048971	0	70	219				
SACS	26278	broad.mit.edu	37	13	23909550	23909550	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:23909550T>C	uc001uon.2	-	10	9054	c.8465A>G	c.(8464-8466)AAT>AGT	p.N2822S	SACS_uc001uoo.2_Missense_Mutation_p.N2675S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2822					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCTGATCTATTACAAATTAG	0.388		NaN											0	0	0	0.069288	0	22	154				
ATP8A2	51761	broad.mit.edu	37	13	26273338	26273338	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:26273338T>A	uc001uqk.2	+	25	2381	c.2239T>A	c.(2239-2241)TGC>AGC	p.C747S	ATP8A2_uc010tdi.1_Missense_Mutation_p.C707S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C297S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	707	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTCAGCACTGCACTGACCT	0.453		NaN											0	0	0	0.048971	0	49	73				
SLC7A1	6541	broad.mit.edu	37	13	30110084	30110084	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:30110084C>T	uc001uso.2	-	3	629	c.242G>A	c.(241-243)GGC>GAC	p.G81D		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	81	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATAGCACAGGCCAGCCAGCAC	0.617		NaN											0	0	0	0.038395	0	14	57				
HTR2A	3356	broad.mit.edu	37	13	47469988	47469988	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:47469988T>C	uc001vbq.2	-	1	188	c.54A>G	c.(52-54)CTA>CTG	p.L18L	HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Silent_p.L18L	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	18	Extracellular (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTAATTGCATTAGGGAGTTCG	0.403		NaN											0	0	0	0.043863	0	17	92				
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:48947629G>C	uc001vcb.2	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(14)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.264		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.0918	0	24	189		Valid		
UTP14C	9724	broad.mit.edu	37	13	52604079	52604079	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:52604079G>A	uc001vgb.2	+	2	1674	c.1139G>A	c.(1138-1140)AGT>AAT	p.S380N	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	380					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCTGCACCAGTGACACCAAA	0.537		NaN											0	0	0	0.080422	0	40	61				
TDRD3	81550	broad.mit.edu	37	13	61041463	61041463	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:61041463G>T	uc001via.2	+	5	954	c.166G>T	c.(166-168)GTT>TTT	p.V56F	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.V56F|TDRD3_uc010aeg.2_Missense_Mutation_p.V149F|TDRD3_uc001vib.3_Missense_Mutation_p.V56F	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	56					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TAACACCACAGTTCTTGGTGG	0.383		NaN											1	0	1.79293e-35	0.048971	2.11982e-35	70	107				
PCDH9	5101	broad.mit.edu	37	13	67799771	67799771	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:67799771G>A	uc001vik.2	-	2	3494	c.2802C>T	c.(2800-2802)GAC>GAT	p.D934D	PCDH9_uc001vil.2_Silent_p.D934D|PCDH9_uc010thl.1_Silent_p.D934D|PCDH9_uc001vin.3_Silent_p.D934D	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	934	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCTTGGCCAGGTCAGGACTGT	0.507		NaN											0	0	0	0.069288	0	19	176				
OR4N5	390437	broad.mit.edu	37	14	20612221	20612221	+	Silent	SNP	G	G	T	rs138565527		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:20612221G>T	uc010tla.1	+	1	327	c.327G>T	c.(325-327)GCG>GCT	p.A109A		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTGGAGCGGGAGAGATGT	0.488		NaN											1	0	1.21826e-31	0.048971	1.41689e-31	84	220				
SALL2	6297	broad.mit.edu	37	14	21992660	21992660	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:21992660T>C	uc001wbe.2	-	2	1484	c.1202A>G	c.(1201-1203)TAT>TGT	p.Y401C	SALL2_uc010tly.1_Missense_Mutation_p.Y399C|SALL2_uc010tlz.1_Missense_Mutation_p.Y264C|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.Y266C|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	401	C2H2-type 2.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ATTGCACTTATAGGGCCTCTC	0.532		NaN											0	0	0	0.030593	0	28	103				
HECTD1	25831	broad.mit.edu	37	14	31637558	31637558	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:31637558C>A	uc001wrc.1	-	10	2057	c.1568G>T	c.(1567-1569)AGG>ATG	p.R523M	HECTD1_uc001wrd.1_Missense_Mutation_p.R38M	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	523					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGCAATAACCTTTTCAAGTA	0.338		NaN											1	0	3.71514e-35	0.048971	4.36835e-35	83	274				
CLEC14A	161198	broad.mit.edu	37	14	38724033	38724033	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:38724033C>T	uc001wum.1	-	1	1542	c.1195G>A	c.(1195-1197)GTC>ATC	p.V399I		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	399	Helical; (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AATATGAAGACCACGGCAGAG	0.507		NaN											0	0	0	0.024245	0	12	49				
ABCD4	5826	broad.mit.edu	37	14	74756769	74756769	+	Silent	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:74756769T>A	uc001xpr.2	-	13	1532	c.1380A>T	c.(1378-1380)CCA>CCT	p.P460P	ABCD4_uc001xps.2_Silent_p.P301P|ABCD4_uc001xpt.2_Silent_p.P301P|ABCD4_uc010tur.1_Silent_p.P356P	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	460	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ATGGCTTTTGTGGCAGGAATA	0.597		NaN									OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.048971	0	50	71				
LTBP2	4053	broad.mit.edu	37	14	74988700	74988700	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:74988700C>T	uc001xqa.2	-	17	3089	c.2702G>A	c.(2701-2703)CGC>CAC	p.R901H		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	901	EGF-like 5; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTTGATGCAGCGCCCTTTTCC	0.627		NaN											0	0	0	0.014758	0	5	57				
HERC2	8924	broad.mit.edu	37	15	28421740	28421741	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:28421740_28421741CC>AA	uc001zbj.2	-	63	9625_9626	c.9519_9520GG>TT	c.(9517-9522)TTGGTA>TTTTTA	p.3173_3174LV>FL		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3173_3174	RCC1 10.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGAAAATACCAAACCTAGGT	0.495		NaN											0	0	0	0.004672	0	73	191				
TMEM62	80021	broad.mit.edu	37	15	43427845	43427845	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:43427845A>G	uc001zqr.2	+	3	707	c.428A>G	c.(427-429)CAT>CGT	p.H143R	TMEM62_uc010bda.2_Missense_Mutation_p.H13R	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	143						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AAAGGAAATCATGGTAAGAGC	0.408		NaN											0	0	0	0.014758	0	4	34				
CHRNA3	1136	broad.mit.edu	37	15	78893669	78893669	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:78893669G>T	uc002bec.2	-	5	1501	c.1315C>A	c.(1315-1317)CCA>ACA	p.P439T	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.P439T	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	439	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						TTGATTTCTGGTGACAAAGCA	0.408		NaN											1	0	2.79145e-41	0.048971	3.31872e-41	65	148				
BNC1	646	broad.mit.edu	37	15	83935803	83935803	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:83935803G>A	uc002bjt.1	-	3	308	c.220C>T	c.(220-222)CCC>TCC	p.P74S	BNC1_uc010uos.1_Missense_Mutation_p.P62S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	74					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TACATGGGGGGGATCCTTAGC	0.423		NaN											0	0	0	0.038395	0	18	43				
FAM169B	283777	broad.mit.edu	37	15	99023900	99023900	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99023900G>A	uc002buk.1	-	4	363	c.113C>T	c.(112-114)TCT>TTT	p.S38F		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	38											0						TTCCTTCACAGAGTGAGGTAG	0.443		NaN											0	0	0	0.042209	0	42	60				
TTC23	64927	broad.mit.edu	37	15	99715294	99715294	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99715294C>T	uc002bur.2	-	9	1357	c.826G>A	c.(826-828)GCC>ACC	p.A276T	TTC23_uc002bus.2_Missense_Mutation_p.A276T|TTC23_uc002but.2_Missense_Mutation_p.A276T|TTC23_uc002buu.2_Missense_Mutation_p.A276T|TTC23_uc002buv.2_Missense_Mutation_p.A276T|TTC23_uc002bux.2_Missense_Mutation_p.A276T|TTC23_uc002buw.2_Missense_Mutation_p.A276T|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.A276T|TTC23_uc010bor.2_Missense_Mutation_p.A276T|TTC23_uc002buz.2_Missense_Mutation_p.A276T	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	276							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCAGCATGGGCGACGATGTGT	0.512		NaN											0	0	0	0.037714	0	27	53				
LASS3	204219	broad.mit.edu	37	15	101041925	101041925	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:101041925G>A	uc002bvz.2	-	4	632	c.130C>T	c.(130-132)CCA>TCA	p.P44S	LASS3_uc002bwa.2_Missense_Mutation_p.P55S|LASS3_uc002bwb.2_Missense_Mutation_p.P44S	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	44	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			AAAGCATATGGAATTGTCACG	0.393		NaN											0	0	0	0.047766	0	8	72				
DNAH3	55567	broad.mit.edu	37	16	20966209	20966209	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:20966209A>G	uc010vbe.1	-	55	10997	c.10997T>C	c.(10996-10998)ATG>ACG	p.M3666T	DNAH3_uc010vbd.1_Missense_Mutation_p.M1101T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3666	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTTTGCCACATCACCGCCTT	0.527		NaN											0	0	0	0.048971	0	64	172				
DNAH3	55567	broad.mit.edu	37	16	21117941	21117941	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:21117941G>T	uc010vbe.1	-	15	2154	c.2154C>A	c.(2152-2154)AAC>AAA	p.N718K	DNAH3_uc002die.2_Missense_Mutation_p.N658K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTCCTTAGTGTTGGCAGGAA	0.403		NaN											1	0	7.26314e-15	0.034045	7.97083e-15	27	72				
IL21R	50615	broad.mit.edu	37	16	27460030	27460030	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:27460030A>T	uc002doq.1	+	9	1276	c.1043A>T	c.(1042-1044)AAG>ATG	p.K348M	IL21R_uc002dor.1_Missense_Mutation_p.K348M|IL21R_uc002dos.1_Missense_Mutation_p.K348M|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	348	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GGTGTGCCCAAGCCCAGCTTC	0.627		NaN	T	BCL6	NHL								0	0	0	0.030593	0	25	79				
ZNF629	23361	broad.mit.edu	37	16	30793590	30793590	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:30793590C>T	uc002dzs.1	-	3	2267	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AAGGGCTTTTCGTTGCCGTGG	0.567		NaN											0	0	0	0.0333	0	17	25				
ZNF423	23090	broad.mit.edu	37	16	49671865	49671865	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:49671865C>T	uc002efs.2	-	5	1496	c.1198G>A	c.(1198-1200)GAC>AAC	p.D400N	ZNF423_uc010vgn.1_Missense_Mutation_p.D283N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	400					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCCTGCCCGTCATCCCGCATC	0.627		NaN											0	0	0	0.069456	0	37	54				
CDH8	1006	broad.mit.edu	37	16	61935121	61935122	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:61935121_61935122CC>AA	uc002eog.1	-	3	760_761	c.508_509GG>TT	c.(508-510)GGA>TTA	p.G170L		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	170	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGATAGGGTCCATTAAGAAAC	0.401		NaN											0	0	0	0.004672	0	37	69				
FOXC2	2303	broad.mit.edu	37	16	86601425	86601425	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:86601425C>T	uc002fjq.2	+	1	569	c.484C>T	c.(484-486)CTG>TTG	p.L162L		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	162	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						CGGCAGCTTCCTGCGGCGCCG	0.667		NaN							Late-onset_Hereditary_Lymphedema				0	0	0	0.034045	0	28	46				
UNC45B	146862	broad.mit.edu	37	17	33479931	33479931	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33479931C>T	uc002hja.2	+	5	498	c.401C>T	c.(400-402)ACA>ATA	p.T134I	UNC45B_uc002hjb.2_Missense_Mutation_p.T134I|UNC45B_uc002hjc.2_Missense_Mutation_p.T134I|UNC45B_uc010cto.2_Missense_Mutation_p.T134I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	134					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CAGTTCTCCACAGACTCGAGG	0.537		NaN											0	0	0	0.039052	0	39	222				
UNC45B	146862	broad.mit.edu	37	17	33496943	33496943	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33496943T>G	uc002hja.2	+	11	1637	c.1540T>G	c.(1540-1542)TGT>GGT	p.C514G	UNC45B_uc002hjb.2_Missense_Mutation_p.C514G|UNC45B_uc002hjc.2_Missense_Mutation_p.C514G|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	514					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGCCAAACAGTGTCGCAAGTA	0.582		NaN											0	0	0	0.045705	0	32	68				
KRT13	3860	broad.mit.edu	37	17	39659035	39659035	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:39659035G>A	uc002hwu.1	-	5	990	c.927C>T	c.(925-927)ACC>ACT	p.T309T	KRT13_uc002hwv.1_Silent_p.T309T|KRT13_uc002hww.2_Silent_p.T202T|KRT13_uc010wfr.1_Silent_p.T202T|KRT13_uc010cxo.2_Silent_p.T309T|KRT13_uc002hwx.1_Silent_p.T297T	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	309	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				TGGCAGTGTTGGTAGACACCT	0.567		NaN											0	0	0	0.048971	0	65	258				
STAT5B	6777	broad.mit.edu	37	17	40370182	40370182	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:40370182C>T	uc002hzh.2	-	9	1325	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	STAT5B_uc002hzi.3_Missense_Mutation_p.E386K	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	386					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CGGGTGTTCTCGTTCTTGAGC	0.547		NaN											0	0	0	0.0333	0	17	26				
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:66871845G>A	uc002jhp.2	-	34	4459	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	ABCA8_uc002jhq.2_Missense_Mutation_p.T1467M|ABCA8_uc010wqq.1_Missense_Mutation_p.T1462M	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483		NaN											0	0	0	0.092188	0	39	54				
KCNJ2	3759	broad.mit.edu	37	17	68171213	68171213	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:68171213C>T	uc010dfg.2	+	2	434	c.33C>T	c.(31-33)ATC>ATT	p.I11I	KCNJ2_uc002jir.2_Silent_p.I11I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	11	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					GCTACAGCATCGTCTCTTCAG	0.512		NaN											0	0	0	0.086207	0	34	68				
DTNA	1837	broad.mit.edu	37	18	32395882	32395882	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr18:32395882A>T	uc010dmn.1	+	6	614	c.613A>T	c.(613-615)ACG>TCG	p.T205S	DTNA_uc002kxu.2_Missense_Mutation_p.T205S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.T205S|DTNA_uc002kxw.2_Missense_Mutation_p.T205S|DTNA_uc002kxx.2_Missense_Mutation_p.T205S|DTNA_uc010dmj.2_Missense_Mutation_p.T205S|DTNA_uc002kxz.2_Missense_Mutation_p.T205S|DTNA_uc002kxy.2_Missense_Mutation_p.T205S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.T205S|DTNA_uc002kyb.3_Missense_Mutation_p.T205S|DTNA_uc010dmm.2_Missense_Mutation_p.T205S|DTNA_uc010xby.1_5'Flank|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	205	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						GAAAAAAGTCACGTTAAATGG	0.398		NaN											0	0	0	0.024245	0	15	149				
LINGO3	645191	broad.mit.edu	37	19	2290293	2290293	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2290293G>A	uc010dsx.1	-	2	1611	c.1483C>T	c.(1483-1485)CTG>TTG	p.L495L	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	495	Extracellular (Potential).|Ig-like C2-type.					integral to membrane					0						CGCACGGTCAGCGTGGCGAAG	0.746		NaN											0	0	0	0.021553	0	6	15				
TMPRSS9	360200	broad.mit.edu	37	19	2413950	2413950	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2413950C>T	uc010xgx.1	+	9	1405	c.1405C>T	c.(1405-1407)CCC>TCC	p.P469S	TMPRSS9_uc002lvv.1_Missense_Mutation_p.P503S	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	469	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCAGCACCCCCACCAAATC	0.607		NaN											0	0	0	0.009096	0	4	27				
LMNB2	84823	broad.mit.edu	37	19	2433947	2433947	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433947G>A	uc002lvy.2	-	8	1386	c.1299C>T	c.(1297-1299)GGC>GGT	p.G433G	LMNB2_uc002lwa.1_Silent_p.G453G	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	433	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCCGTGCCCAGGACGC	0.711		NaN											0	0	0	0.021553	0	6	32				
LMNB2	84823	broad.mit.edu	37	19	2433965	2433965	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433965G>A	uc002lvy.2	-	8	1368	c.1281C>T	c.(1279-1281)AGC>AGT	p.S427S	LMNB2_uc002lwa.1_Silent_p.S447S	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	427	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTGGGCCGCTGCCCAAGG	0.716		NaN											0	0	0	0.014758	0	5	25				
C19orf29	58509	broad.mit.edu	37	19	3623701	3623701	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:3623701G>A	uc002lyh.2	-	2	680	c.627C>T	c.(625-627)ACC>ACT	p.T209T	C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.T209T|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	209						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGATGAAGGTGCCCAGCA	0.592		NaN											0	0	0	0.004672	0	3	24				
MUC16	94025	broad.mit.edu	37	19	9067793	9067793	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:9067793C>G	uc002mkp.2	-	3	19857	c.19653G>C	c.(19651-19653)AAG>AAC	p.K6551N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6553	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TATCTGTGGTCTTCACTAGGC	0.483		NaN											0	0	0	0.076483	0	24	52				
ZNF490	57474	broad.mit.edu	37	19	12691722	12691722	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:12691722G>A	uc002mtz.2	-	5	1296	c.1167C>T	c.(1165-1167)CCC>CCT	p.P389P		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATTCATAGGGTTTTTCTC	0.393		NaN											0	0	0	0.076483	0	22	132				
NANOS3	342977	broad.mit.edu	37	19	13988556	13988556	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:13988556G>T	uc002mxj.3	+	1	607	c.494G>T	c.(493-495)CGC>CTC	p.R165L		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	146					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACAGGCCACCGCCGAGGAGGA	0.652		NaN											1	0	1.06961e-07	0.038147	1.11657e-07	8	4				
RYR1	6261	broad.mit.edu	37	19	38931454	38931454	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:38931454G>A	uc002oit.2	+	2	245	c.115G>A	c.(115-117)GAG>AAG	p.E39K	RYR1_uc002oiu.2_Missense_Mutation_p.E39K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	39	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGGCCGCCGAGGGCTTCGG	0.682		NaN											0	0	0	0.038147	0	7	27				
ZNF845	91664	broad.mit.edu	37	19	53854662	53854662	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:53854662G>A	uc010ydv.1	+	4	851	c.734G>A	c.(733-735)TGT>TAT	p.C245Y	ZNF845_uc010ydw.1_Missense_Mutation_p.C245Y	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	245	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAATATAAATGTGATGTGTGT	0.368		NaN											0	0	0	0.108266	0	29	44				
ZNF606	80095	broad.mit.edu	37	19	58491249	58491249	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:58491249C>T	uc002qqw.2	-	7	1417	c.799G>A	c.(799-801)GAC>AAC	p.D267N	ZNF606_uc010yhp.1_Missense_Mutation_p.D177N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTTTGTCATAATCATTA	0.338		NaN											0	0	0	0.048971	0	135	170				
RPS7	6201	broad.mit.edu	37	2	3627748	3627748	+	Silent	SNP	C	C	T	rs149082052		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:3627748C>T	uc002qxw.2	+	6	511	c.405C>T	c.(403-405)TTC>TTT	p.F135F	RPS7_uc002qxy.2_RNA	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	135					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		ACTTGGTCTTCCCAAGCGAAA	0.493		NaN											0	0	0	0.048971	0	67	94				
GTF3C2	2976	broad.mit.edu	37	2	27551030	27551030	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:27551030C>T	uc002rjv.1	-	18	2646	c.2283G>A	c.(2281-2283)CCG>CCA	p.P761P	MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Silent_p.P216P|GTF3C2_uc002rju.1_Silent_p.P772P|GTF3C2_uc002rjw.1_Silent_p.P761P	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	761						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTGATACGGTATCAGAT	0.443		NaN											0	0	0	0.054565	0	28	53				
C2orf40	84417	broad.mit.edu	37	2	106694282	106694282	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:106694282G>A	uc010fjf.2	+	4	455	c.347G>A	c.(346-348)GGC>GAC	p.G116D		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	116						extracellular region|transport vesicle					0						GAATACTATGGCGATTACTAC	0.433		NaN											0	0	0	0.09836	0	40	64				
CXCR4	7852	broad.mit.edu	37	2	136872564	136872564	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:136872564A>C	uc002tuz.2	-	2	1029	c.934T>G	c.(934-936)TCT>GCT	p.S312A	CXCR4_uc002tuy.2_Missense_Mutation_p.S316A|CXCR4_uc010fnk.2_Missense_Mutation_p.S297A	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	312	Cytoplasmic.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGCTGGGCAGAGGTTTTAAAT	0.512		NaN											0	0	0	0.048971	0	340	531				
THSD7B	80731	broad.mit.edu	37	2	138414424	138414424	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:138414424T>C	uc002tva.1	+	22	4077	c.4077T>C	c.(4075-4077)GAT>GAC	p.D1359D	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCATTGATGGAAGAAGCT	0.453		NaN											0	0	0	0.069288	0	24	38				
LRP1B	53353	broad.mit.edu	37	2	141283905	141283905	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:141283905T>C	uc002tvj.1	-	48	8749	c.7777A>G	c.(7777-7779)ACG>GCG	p.T2593A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2593	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTCAACCGTGGCACAGGTT	0.388		NaN								TSP Lung(27;0.18)			0	0	0	0.037714	0	29	42				
TTN	7273	broad.mit.edu	37	2	179472164	179472164	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179472164C>T	uc010zfg.1	-	226	45771	c.45547G>A	c.(45547-45549)GGT>AGT	p.G15183S	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8878S|TTN_uc010zfi.1_Missense_Mutation_p.G8811S|TTN_uc010zfj.1_Missense_Mutation_p.G8686S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16110							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTGGAACCACAGCTATTT	0.378		NaN											0	0	0	0.048971	0	81	129				
TTN	7273	broad.mit.edu	37	2	179583684	179583684	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179583684T>A	uc010zfg.1	-	81	20735	c.20511A>T	c.(20509-20511)GAA>GAT	p.E6837D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3498D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGGGTTTGTTCAAAAGATG	0.448		NaN											0	0	0	0.080935	0	10	11				
ABCA12	26154	broad.mit.edu	37	2	215854127	215854127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:215854127C>T	uc002vew.2	-	26	3975	c.3755G>A	c.(3754-3756)TGG>TAG	p.W1252*	ABCA12_uc002vev.2_Nonsense_Mutation_p.W934*|ABCA12_uc010zjn.1_Nonsense_Mutation_p.W179*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1252	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGCACAGCCAGCCAAATGA	0.428		NaN											0	0	0	0.092188	0	39	65				
DHX35	60625	broad.mit.edu	37	20	37662873	37662873	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:37662873G>T	uc002xjh.2	+	21	1991	c.1980G>T	c.(1978-1980)CAG>CAT	p.Q660H	DHX35_uc010zwa.1_Missense_Mutation_p.Q505H|DHX35_uc010zwb.1_Missense_Mutation_p.Q505H|DHX35_uc010zwc.1_Missense_Mutation_p.Q629H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	660						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AAGTTATACAGACCTCCAAGT	0.448		NaN											1	0	3.7963e-18	0.083992	4.18768e-18	23	82				
ELMO2	63916	broad.mit.edu	37	20	45022241	45022241	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:45022241C>T	uc002xrt.1	-	5	330	c.120_splice	c.e5-1	p.G40_splice	ELMO2_uc002xru.1_Splice_Site_p.G40_splice|ELMO2_uc010zxr.1_Splice_Site_p.G40_splice|ELMO2_uc010zxs.1_Splice_Site|ELMO2_uc002xrx.1_Splice_Site_p.G40_splice	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAACGACCACCTATGCAAGAG	0.453		NaN											0	0	0	0.048971	0	96	195				
ZNF831	128611	broad.mit.edu	37	20	57768011	57768011	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:57768011G>A	uc002yan.2	+	1	1937	c.1937G>A	c.(1936-1938)AGG>AAG	p.R646K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	646						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					AAGAAAGCCAGGGAGGTGGGA	0.567		NaN											0	0	0	0.048971	0	46	127				
C20orf11	54994	broad.mit.edu	37	20	61572869	61572869	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:61572869A>G	uc002ydy.2	+	2	192	c.15A>G	c.(13-15)GAA>GAG	p.E5E		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	5						nucleus	protein binding				0	Breast(26;5.68e-08)					GTTATGCAGAAAAACCCGATG	0.458		NaN											0	0	0	0.024245	0	15	50				
USP25	29761	broad.mit.edu	37	21	17203740	17203740	+	Silent	SNP	C	C	T	rs145101158		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:17203740C>T	uc002yjy.1	+	16	2002	c.1785C>T	c.(1783-1785)GCC>GCT	p.A595A	USP25_uc011aby.1_Silent_p.A595A|USP25_uc002yjz.1_Silent_p.A595A|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	595					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATTACATGCCGTTTTAGTTC	0.373		NaN											0	0	0	0.069288	0	24	131				
COL18A1	80781	broad.mit.edu	37	21	46910215	46910215	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:46910215C>T	uc011afs.1	+	19	3252	c.3231C>T	c.(3229-3231)CCC>CCT	p.P1077P	COL18A1_uc002zhg.2_Silent_p.P662P|COL18A1_uc002zhi.2_Silent_p.P842P	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1077	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ATGGAGTCCCCGGGTTCCCCG	0.677		NaN											0	0	0	0.02938	0	6	11				
DDTL	100037417	broad.mit.edu	37	22	24313540	24313540	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr22:24313540T>C	uc002zyy.3	+	3	427	c.350T>C	c.(349-351)ATA>ACA	p.I117T	DDT_uc011ajf.1_Intron	NM_001084393	NP_001077862	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	117						cytoplasm	lyase activity				0						GGAGAGATAATAGAAGGTAAG	0.483		NaN											0	0	0	0.09836	0	43	65				
CCBP2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:42906025G>A	uc003cme.2	+	3	210	c.31G>A	c.(31-33)GCC>ACC	p.A11T	CCBP2_uc003cmd.1_Missense_Mutation_p.A11T|CCBP2_uc003cmf.2_Missense_Mutation_p.A11T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	11	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCAGCCACTCGCCACTGAGGA	0.542		NaN											0	0	0	0.050027	0	30	41				
RASSF1	11186	broad.mit.edu	37	3	50369047	50369047	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:50369047C>T	uc003dad.1	-	4	846	c.715G>A	c.(715-717)GTG>ATG	p.V239M	RASSF1_uc003daa.1_Missense_Mutation_p.V84M|RASSF1_uc003dab.1_Missense_Mutation_p.V165M|RASSF1_uc003dac.2_Missense_Mutation_p.V84M|RASSF1_uc003dae.1_Missense_Mutation_p.V235M|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.V84M	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	239	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCATCCACCACCAAGAACTTT	0.577		NaN											0	0	0	0.028581	0	16	114				
WDR52	55779	broad.mit.edu	37	3	113145001	113145001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:113145001G>C	uc003eae.1	-	4	423	c.377C>G	c.(376-378)TCA>TGA	p.S126*		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	126										central_nervous_system(1)	1						TGGTATGTTTGAATCCAGAGT	0.353		NaN											0	0	0	0.048971	0	122	219				
ARGFX	503582	broad.mit.edu	37	3	121305213	121305213	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121305213T>A	uc003eef.2	+	5	809	c.714T>A	c.(712-714)GAT>GAA	p.D238E		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(114;0.152)		ATCTTCCTGATGAGAATGAGA	0.463		NaN											0	0	0	0.048971	0	63	112				
FBXO40	51725	broad.mit.edu	37	3	121345737	121345737	+	Nonsense_Mutation	SNP	C	C	T	rs139292085		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121345737C>T	uc003eeg.2	+	4	2320	c.2110C>T	c.(2110-2112)CGA>TGA	p.R704*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	704					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		AATCAGACCACGAGGAAGATA	0.483		NaN											0	0	0	0.050027	0	31	62				
H1FX	8971	broad.mit.edu	37	3	129034521	129034521	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034521C>G	uc003elx.2	-	1	600	c.225G>C	c.(223-225)AAG>AAC	p.K75N	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	75	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACGGAACCTTCTTGGCCTCGG	0.617		NaN											0	0	0	0.047766	0	9	5				
H1FX	8971	broad.mit.edu	37	3	129034529	129034529	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034529C>T	uc003elx.2	-	1	592	c.217G>A	c.(217-219)GAG>AAG	p.E73K	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	73	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						TTCTTGGCCTCGGTGTAGATC	0.597		NaN											0	0	0	0.038147	0	7	5				
PRR23B	389151	broad.mit.edu	37	3	138738777	138738777	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:138738777C>T	uc003esy.1	-	1	992	c.727G>A	c.(727-729)GGT>AGT	p.G243S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	243	Pro-rich.									breast(1)	1						GCGTGGGGACCTGGACTCCCC	0.652		NaN											0	0	0	0.047766	0	7	33				
GPR171	29909	broad.mit.edu	37	3	150916249	150916249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:150916249G>A	uc003eyq.3	-	3	1165	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	309	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTCTTTCTGAGCCTTGGTC	0.388		NaN											0	0	0	0.080422	0	39	75				
FAM193A	8603	broad.mit.edu	37	4	2701490	2701490	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:2701490G>T	uc010icl.2	+	17	3069	c.2718G>T	c.(2716-2718)GAG>GAT	p.E906D	FAM193A_uc010ick.2_Missense_Mutation_p.E1106D|FAM193A_uc003gfd.2_Missense_Mutation_p.E906D|FAM193A_uc011bvm.1_Missense_Mutation_p.E928D|FAM193A_uc011bvn.1_Missense_Mutation_p.E906D|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E760D	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	906	Glu-rich.|Potential.									ovary(3)	3						GGCGggaggaggaggaggatg	0.458		NaN											1	0	0.00448238	0.047766	0.00454611	8	39				
EVC2	132884	broad.mit.edu	37	4	5564598	5564598	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:5564598T>A	uc003gij.2	-	22	3958	c.3904A>T	c.(3904-3906)ATG>TTG	p.M1302L	EVC2_uc011bwb.1_Missense_Mutation_p.M742L|EVC2_uc003gik.2_Missense_Mutation_p.M1222L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1302						integral to membrane				large_intestine(3)|ovary(2)	5						AAGGCCCTCATGGCCTTTTTG	0.488		NaN											0	0	0	0.048971	0	51	112				
LAP3	51056	broad.mit.edu	37	4	17606232	17606232	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:17606232G>T	uc003gph.1	+	11	1364	c.1202G>T	c.(1201-1203)GGA>GTA	p.G401V		NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	401					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0						GTAGCTTTGGGATCAGGTGCC	0.478		NaN											1	0	7.03913e-09	0.09319	7.42056e-09	11	114				
GBA3	57733	broad.mit.edu	37	4	22749341	22749341	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:22749341G>C	uc003gqp.3	+	3	800	c.709G>C	c.(709-711)GTG>CTG	p.V237L	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V238L	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	237					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						TCCCAACTCAGTGTCTGACCA	0.428		NaN											0	0	0	0.104719	0	36	177				
AFM	173	broad.mit.edu	37	4	74357676	74357676	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74357676G>T	uc003hhb.2	+	8	962	c.931G>T	c.(931-933)GGC>TGC	p.G311C		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	311	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCAGAGCGCGGCCAGTGCAT	0.358		NaN											1	0	1.85244e-09	0.083992	1.96249e-09	23	38				
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74853045G>T	uc003hhj.2	-	3	411	c.331C>A	c.(331-333)CCC>ACC	p.P111T		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	111					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428		NaN											1	0	4.88482e-21	0.048971	5.53096e-21	45	68				
WDFY3	23001	broad.mit.edu	37	4	85781566	85781566	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:85781566C>T	uc003hpd.2	-	4	587	c.179G>A	c.(178-180)AGG>AAG	p.R60K	WDFY3_uc003hpf.2_Missense_Mutation_p.R60K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	60						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGACTTACCCTGTTAAACAC	0.507		NaN											0	0	0	0.108266	0	25	57				
TIGD2	166815	broad.mit.edu	37	4	90035429	90035429	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:90035429G>T	uc003hsk.2	+	1	1462	c.1304G>T	c.(1303-1305)CGG>CTG	p.R435L	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	435					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTCGACTCTCGGAGCAGTGAC	0.443		NaN											1	0	1.7881e-09	0.037714	1.90375e-09	30	46				
CENPE	1062	broad.mit.edu	37	4	104061057	104061057	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:104061057A>G	uc003hxb.1	-	38	6183	c.6093T>C	c.(6091-6093)CTT>CTC	p.L2031L	CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2031	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATTTCTTCAAGGCTTTCAT	0.358		NaN											0	0	0	0.048971	0	47	96				
RBM46	166863	broad.mit.edu	37	4	155719125	155719125	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:155719125T>C	uc003ioo.2	+	3	487	c.314T>C	c.(313-315)TTT>TCT	p.F105S	RBM46_uc011cim.1_Missense_Mutation_p.F105S|RBM46_uc003iop.1_Missense_Mutation_p.F105S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	105	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				GGTTATGCTTTTGTGATGTAC	0.353		NaN											0	0	0	0.039052	0	40	60				
TDO2	6999	broad.mit.edu	37	4	156838600	156838600	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:156838600T>C	uc003ipf.1	+	10	1014	c.950T>C	c.(949-951)ATA>ACA	p.I317T		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	317					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTTATGGACATAGATTCACTG	0.418		NaN											0	0	0	0.048971	0	42	56				
ODZ3	55714	broad.mit.edu	37	4	183696288	183696288	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:183696288C>T	uc003ivd.1	+	23	5323	c.5286C>T	c.(5284-5286)GTC>GTT	p.V1762V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1762	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGTCAATGTCTTTGGCCGCA	0.532		NaN											0	0	0	0.028581	0	15	32				
ADAMTS12	81792	broad.mit.edu	37	5	33576735	33576735	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:33576735G>A	uc003jia.1	-	19	3559	c.3396C>T	c.(3394-3396)TCC>TCT	p.S1132S	ADAMTS12_uc010iuq.1_Silent_p.S1047S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1132	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TAGGGTTGCGGGAAGATGACA	0.483		NaN								HNSCC(64;0.19)			0	0	0	0.083992	0	25	107				
CARD6	84674	broad.mit.edu	37	5	40843579	40843579	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:40843579A>G	uc003jmg.2	+	2	684	c.609A>G	c.(607-609)CTA>CTG	p.L203L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	203	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						ATGAGGAGCTAGATGATTCTT	0.393		NaN											0	0	0	0.024245	0	16	52				
FBXO4	26272	broad.mit.edu	37	5	41927133	41927133	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:41927133A>G	uc003jmq.2	+	2	264	c.208A>G	c.(208-210)ATT>GTT	p.I70V	FBXO4_uc003jmp.2_Missense_Mutation_p.I70V|FBXO4_uc003jmr.2_Missense_Mutation_p.I70V	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	70	F-box.				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ACAGCTATATATTTTGTCCTT	0.333		NaN											0	0	0	0.048971	0	69	140				
VCAN	1462	broad.mit.edu	37	5	82816650	82816650	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:82816650A>T	uc003kii.3	+	7	2881	c.2525A>T	c.(2524-2526)GAC>GTC	p.D842V	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D842V|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	842	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGATAAAGACATCCCAAGT	0.423		NaN											0	0	0	0.049695	0	20	95				
MEF2C	4208	broad.mit.edu	37	5	88047694	88047694	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:88047694G>A	uc003kjj.2	-	5	1242	c.569C>T	c.(568-570)CCT>CTT	p.P190L	MEF2C_uc003kji.2_Missense_Mutation_p.P190L|MEF2C_uc003kjk.2_Missense_Mutation_p.P190L|MEF2C_uc003kjm.2_Missense_Mutation_p.P188L|MEF2C_uc003kjl.2_Missense_Mutation_p.P208L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	190					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGCACTTGGAGGTCGATGTGT	0.473		NaN								HNSCC(66;0.2)			0	0	0	0.037714	0	27	246				
LRRTM2	26045	broad.mit.edu	37	5	138209838	138209838	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:138209838A>C	uc011cyz.1	-	2	869	c.412T>G	c.(412-414)TTG>GTG	p.L138V	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	138	LRR 4.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGGTCCAAATTTTGCAGG	0.398		NaN											0	0	0	0.038395	0	18	27				
PCDHB5	26167	broad.mit.edu	37	5	140517344	140517344	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140517344G>T	uc003liq.2	+	1	2545	c.2328G>T	c.(2326-2328)CAG>CAT	p.Q776H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGCCCCAGGGCGCTGGTG	0.502		NaN											1	0	2.06477e-34	0.048971	2.41454e-34	86	173				
PCDHGA10	56106	broad.mit.edu	37	5	140795157	140795157	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140795157A>G	uc003lkl.1	+	1	2415	c.2415A>G	c.(2413-2415)ATA>ATG	p.I805M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.I805M|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCCTATAGAGGATACCC	0.393		NaN											0	0	0	0.105934	0	12	37				
ABLIM3	22885	broad.mit.edu	37	5	148632376	148632376	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:148632376G>T	uc003lpy.2	+	23	2165	c.1914G>T	c.(1912-1914)AAG>AAT	p.K638N	ABLIM3_uc003lpz.1_Missense_Mutation_p.K638N|ABLIM3_uc003lqa.1_Missense_Mutation_p.K535N|ABLIM3_uc003lqb.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqc.1_Missense_Mutation_p.K605N|ABLIM3_uc003lqd.1_Missense_Mutation_p.K543N|ABLIM3_uc003lqf.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqe.1_Missense_Mutation_p.K527N	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	638	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCCCAAGGATGTAGACA	0.488		NaN											1	0	1.36615e-20	0.054565	1.53871e-20	34	98				
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:150934193G>A	uc003lue.3	-	4	3688	c.3675C>T	c.(3673-3675)ACC>ACT	p.T1225T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1225	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517		NaN											0	0	0	0.083992	0	24	155				
HK3	3101	broad.mit.edu	37	5	176314051	176314051	+	Silent	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176314051T>A	uc003mfa.2	-	13	1901	c.1809A>T	c.(1807-1809)CCA>CCT	p.P603P	HK3_uc003mez.2_Silent_p.P159P	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	603	Glucose-binding (Potential).|Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAACCCAGTGGGAGGCTCT	0.607		NaN											0	0	0	0.020292	0	14	41				
SLC34A1	6569	broad.mit.edu	37	5	176813554	176813554	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176813554G>A	uc003mgk.3	+	5	620	c.519G>A	c.(517-519)ATG>ATA	p.M173I		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	173	Helical; Name=M3; (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGTCAGCATGGTCTCCTCTG	0.647		NaN											0	0	0	0.043863	0	18	111				
TTBK1	84630	broad.mit.edu	37	6	43226925	43226925	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:43226925T>C	uc003ouq.1	+	11	1445	c.1166T>C	c.(1165-1167)GTC>GCC	p.V389A		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	389						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCCACCTTGTCCCCCACCCC	0.632		NaN											0	0	0	0.069234	0	10	81				
TMEM30A	55754	broad.mit.edu	37	6	75977363	75977363	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:75977363T>C	uc003phw.2	-	2	617	c.339A>G	c.(337-339)TCA>TCG	p.S113S	TMEM30A_uc003phx.2_Intron	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	113						integral to membrane					0						AGACCTCAAATGACTTTTCCA	0.358		NaN											0	0	0	0.074837	0	34	172				
TTK	7272	broad.mit.edu	37	6	80723066	80723066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:80723066G>T	uc003pjc.2	+	9	1041	c.967G>T	c.(967-969)GAA>TAA	p.E323*	TTK_uc003pjb.3_Nonsense_Mutation_p.E323*	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	323					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGATTCCTGTGAATTAAGAAA	0.348		NaN											1	0	1.35964e-18	0.048971	1.50758e-18	44	127				
KIAA0776	23376	broad.mit.edu	37	6	96990871	96990871	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:96990871G>A	uc003por.2	+	12	1429	c.1381G>A	c.(1381-1383)GAA>AAA	p.E461K	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	461					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		TAGTGATGATGAATCTCAATC	0.373		NaN											0	0	0	0.048971	0	43	92				
STXBP5	134957	broad.mit.edu	37	6	147704100	147704100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:147704100C>G	uc003qlz.2	+	27	3541	c.3380C>G	c.(3379-3381)TCA>TGA	p.S1127*	STXBP5_uc010khz.1_Nonsense_Mutation_p.S1091*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.S782*	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	1127	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCATGTTATCAAGTGCAGAG	0.428		NaN											0	0	0	0.080422	0	38	53				
C6orf72	116254	broad.mit.edu	37	6	149893469	149893469	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:149893469T>C	uc003qmq.1	+	2	196	c.169T>C	c.(169-171)TCT>CCT	p.S57P	C6orf72_uc010kie.1_Intron	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	57	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TGGGGACATATCTAAACAGCA	0.343		NaN											0	0	0	0.076483	0	25	51				
PACRG	135138	broad.mit.edu	37	6	163235240	163235240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:163235240G>A	uc003qua.2	+	3	442	c.218G>A	c.(217-219)CGA>CAA	p.R73Q	PACRG_uc003qub.2_Missense_Mutation_p.R73Q|PACRG_uc003quc.2_Missense_Mutation_p.R73Q	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	73											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACAGCATTTCGAAAATTCTAT	0.468		NaN											0	0	0	0.039052	0	42	199				
C7orf36	57002	broad.mit.edu	37	7	39612007	39612007	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:39612007C>G	uc003thc.3	+	3	392	c.383C>G	c.(382-384)TCC>TGC	p.S128C		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	128											0						ACTCCACCGTCCCATGTTGTA	0.373		NaN											0	0	0	0.042209	0	44	119				
GCK	2645	broad.mit.edu	37	7	44190672	44190672	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:44190672G>A	uc003tkl.2	-	4	836	c.366C>T	c.(364-366)CTC>CTT	p.L122L	GCK_uc003tkj.1_Silent_p.L121L|GCK_uc003tkk.1_Silent_p.L123L	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	122					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TGTAGTCGAAGAGCTGGAAGA	0.587		NaN											0	0	0	0.034045	0	30	44				
C7orf52	375607	broad.mit.edu	37	7	100817986	100817986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:100817986C>T	uc003uxy.1	-	2	342	c.103G>A	c.(103-105)GAG>AAG	p.E35K	C7orf52_uc003uxz.1_Missense_Mutation_p.E35K|C7orf52_uc003uya.1_Missense_Mutation_p.E35K|C7orf52_uc003uyb.1_Missense_Mutation_p.E35K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	35							N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCTCCACCTCCTGTGGCCGG	0.637		NaN											0	0	0	0.069288	0	23	127				
TFEC	22797	broad.mit.edu	37	7	115596823	115596823	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:115596823A>T	uc003vhj.1	-	4	476	c.292T>A	c.(292-294)TAT>AAT	p.Y98N	TFEC_uc003vhk.1_Missense_Mutation_p.Y69N|TFEC_uc003vhl.3_Missense_Mutation_p.Y69N|TFEC_uc011kmw.1_Missense_Mutation_p.Y188N|TFEC_uc003vhm.1_RNA	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	98	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			TCACCGCTATACACATCCAAA	0.323		NaN											0	0	0	0.069456	0	33	59				
SMO	6608	broad.mit.edu	37	7	128850949	128850949	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:128850949C>A	uc003vor.2	+	10	2076	c.1796C>A	c.(1795-1797)CCC>CAC	p.P599H	SMO_uc003vos.2_Missense_Mutation_p.P274H	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	599	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CACGACGGGCCCGTGGGTGAG	0.632		NaN	Mis		skin basal cell 								1	0	6.29468e-14	0.074837	6.83788e-14	38	89				
TTC26	79989	broad.mit.edu	37	7	138822608	138822608	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:138822608G>A	uc003vus.2	+	3	271	c.157G>A	c.(157-159)GGG>AGG	p.G53R	TTC26_uc003vuq.2_Missense_Mutation_p.G53R|TTC26_uc011kqm.1_Missense_Mutation_p.G53R|TTC26_uc003vur.3_Missense_Mutation_p.G53R|TTC26_uc011kqn.1_Missense_Mutation_p.G53R|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.G53R	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	53							binding			ovary(1)	1						ACGTCATGTTGGGGAAGAAGA	0.328		NaN											0	0	0	0.054565	0	30	105				
TRPV5	56302	broad.mit.edu	37	7	142622811	142622811	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:142622811G>A	uc003wby.1	-	8	1199	c.935C>T	c.(934-936)CCA>CTA	p.P312L	TRPV5_uc003wbz.2_Missense_Mutation_p.P312L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	312	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CTCCTTCACTGGGGTCTGTTC	0.527		NaN											0	0	0	0.021553	0	6	36				
DOCK5	80005	broad.mit.edu	37	8	25234819	25234819	+	Splice_Site	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:25234819A>G	uc003xeg.2	+	38	3954	c.3817_splice	c.e38-2	p.W1273_splice	PPP2R2A_uc003xek.2_Splice_Site_p.W62_splice|DOCK5_uc003xei.2_Splice_Site_p.W843_splice|DOCK5_uc003xej.2_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCCTTTTCAGTGGTCTGAC	0.363		NaN											0	0	0	0.062417	0	22	24				
SCARA3	51435	broad.mit.edu	37	8	27516466	27516466	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:27516466G>A	uc003xga.1	+	5	920	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R260Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	260	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AACTACACACGGCTCTTCAGC	0.622		NaN											0	0	0	0.028581	0	15	25				
ADHFE1	137872	broad.mit.edu	37	8	67357551	67357551	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:67357551T>A	uc003xwb.3	+	6	486	c.452T>A	c.(451-453)CTG>CAG	p.L151Q	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.L103Q|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.L81Q|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	151					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTGCTAATCTGTATGCATCC	0.493		NaN											0	0	0	0.058154	0	10	247				
PRDM14	63978	broad.mit.edu	37	8	70981498	70981498	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:70981498C>G	uc003xym.2	-	2	800	c.598G>C	c.(598-600)GAG>CAG	p.E200Q		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCAGGTCCTCCTCCGTGAAC	0.602		NaN											0	0	0	0.092188	0	42	85				
DCAF4L2	138009	broad.mit.edu	37	8	88885212	88885212	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:88885212C>A	uc003ydz.2	-	1	1085	c.988G>T	c.(988-990)GCG>TCG	p.A330S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	330	WD 2.									ovary(1)	1						CCCACGGCCGCCACGACTCCT	0.567		NaN											1	0	1.21669e-08	0.059317	1.27633e-08	32	56				
TRHR	7201	broad.mit.edu	37	8	110100523	110100523	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:110100523G>A	uc003ymz.3	+	1	798	c.782G>A	c.(781-783)AGG>AAG	p.R261K		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	261	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTATCTTCAAGGAAGCAGGTA	0.383		NaN											0	0	0	0.028581	0	16	46				
CSMD3	114788	broad.mit.edu	37	8	113657416	113657416	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:113657416T>C	uc003ynu.2	-	20	3391	c.3232A>G	c.(3232-3234)ATC>GTC	p.I1078V	CSMD3_uc003yns.2_Missense_Mutation_p.I350V|CSMD3_uc003ynt.2_Missense_Mutation_p.I1038V|CSMD3_uc011lhx.1_Missense_Mutation_p.I974V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1078	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTGATAAGATTGTTCCACTA	0.398		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.099896	0	26	48				
KIAA2026	158358	broad.mit.edu	37	9	6007430	6007430	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:6007430G>A	uc003zjq.3	-	1	574	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	120										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCCCCGCTGCGCGGCCCTTCC	0.726		NaN											0	0	0	0.004672	0	3	23				
ZCCHC6	79670	broad.mit.edu	37	9	88953842	88953842	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:88953842C>T	uc004aoq.2	-	9	1446	c.1231G>A	c.(1231-1233)GCA>ACA	p.A411T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.A411T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A411T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	411					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TCATTTCCTGCGCTCACTTTA	0.433		NaN											0	0	0	0.028581	0	15	60				
RABEPK	10244	broad.mit.edu	37	9	127996239	127996239	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:127996239A>G	uc004bpi.2	+	9	1272	c.1099A>G	c.(1099-1101)ATT>GTT	p.I367V	RABEPK_uc004bpj.2_Missense_Mutation_p.I316V|RABEPK_uc004bpk.2_Missense_Mutation_p.I367V|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.I367V	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	367					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TGACGATTGTATTGTGACTGT	0.388		NaN											0	0	0	0.048971	0	96	206				
C9orf50	375759	broad.mit.edu	37	9	132375441	132375441	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:132375441T>C	uc004byc.3	-	6	1335	c.1133A>G	c.(1132-1134)CAG>CGG	p.Q378R	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	378										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				TCGCGGCCTCTGAGCAGCGGC	0.607		NaN											0	0	0	0.104719	0	38	101				
LAMC3	10319	broad.mit.edu	37	9	133911631	133911631	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:133911631C>T	uc004caa.1	+	4	986	c.888C>T	c.(886-888)ACC>ACT	p.T296T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	296	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCACAACACCACCGGCACAG	0.682		NaN											0	0	0	0.069456	0	17	56				
FCN2	2220	broad.mit.edu	37	9	137777143	137777143	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:137777143C>A	uc004cfg.1	+	5	370	c.360C>A	c.(358-360)ACC>ACA	p.T120T	FCN2_uc004cfh.1_Silent_p.T82T	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	120	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTGGCACACCATCTACCTGC	0.677		NaN											1	0	1.05317e-09	0.020292	1.12689e-09	14	46				
FUNDC1	139341	broad.mit.edu	37	X	44401284	44401284	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:44401284T>C	uc004dgc.2	-	2	235	c.92A>G	c.(91-93)CAG>CGG	p.Q31R		NM_173794	NP_776155	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	31											0						ATTCCACCACTGGTGTCTTCT	0.408		NaN											0	0	0	0.038147	0	7	8				
PCDH11X	27328	broad.mit.edu	37	X	91132785	91132785	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:91132785G>C	uc004efk.1	+	2	2391	c.1546G>C	c.(1546-1548)GAT>CAT	p.D516H	PCDH11X_uc004efl.1_Missense_Mutation_p.D516H|PCDH11X_uc004efo.1_Missense_Mutation_p.D516H|PCDH11X_uc010nmv.1_Missense_Mutation_p.D516H|PCDH11X_uc004efm.1_Missense_Mutation_p.D516H|PCDH11X_uc004efn.1_Missense_Mutation_p.D516H|PCDH11X_uc004efh.1_Missense_Mutation_p.D516H|PCDH11X_uc004efj.1_Missense_Mutation_p.D516H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	516	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATTCAGCCTGGATTGTCGTAC	0.438		NaN											0	0	0	0.054565	0	36	27				
ZMAT1	84460	broad.mit.edu	37	X	101138751	101138751	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101138751C>T	uc004eim.2	-	2	4633	c.1135G>A	c.(1135-1137)GAA>AAA	p.E379K	ZMAT1_uc011mrl.1_Missense_Mutation_p.E550K|ZMAT1_uc004ein.2_Missense_Mutation_p.E379K|ZMAT1_uc011mrm.1_Missense_Mutation_p.E379K	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	379						nucleus	zinc ion binding			ovary(1)	1						TCTGGCCTTTCTTTGCCTTCT	0.393		NaN											0	0	0	0.048971	0	68	59				
ZMAT1	84460	broad.mit.edu	37	X	101141649	101141649	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101141649A>G	uc004eim.2	-	1	3545	c.47T>C	c.(46-48)TTA>TCA	p.L16S	ZMAT1_uc011mrl.1_Missense_Mutation_p.L187S|ZMAT1_uc004ein.2_Missense_Mutation_p.L16S|ZMAT1_uc011mrm.1_Missense_Mutation_p.L16S	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	16						nucleus	zinc ion binding			ovary(1)	1						GAACATATCTAAAGATGTAAA	0.328		NaN											0	0	0	0.062417	0	20	17				
ATAD3B	83858	broad.mit.edu	37	1	1423280	1423280	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1423280C>T	uc001afv.2	+	12	1353	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	ATAD3B_uc001afx.2_Missense_Mutation_p.R372W|ATAD3B_uc001afy.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	418							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCCTTCCTTCGGAAGCGAGC	0.622		NaN											0	0	0	0.09319	0	13	68				
NADK	65220	broad.mit.edu	37	1	1684482	1684482	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1684482G>A	uc009vkw.2	-	12	1323	c.1202C>T	c.(1201-1203)TCA>TTA	p.S401L	NADK_uc001aic.2_Missense_Mutation_p.S401L|NADK_uc001aid.3_Missense_Mutation_p.S401L|NADK_uc001aie.2_Missense_Mutation_p.S546L|NADK_uc010nyv.1_Missense_Mutation_p.S369L	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	401					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CGGGTAGCATGAGGTAGTGAT	0.642		NaN											0	0	0	0.021553	0	3	19				
ARID1A	8289	broad.mit.edu	37	1	27059204	27059204	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059204C>T	uc001bmv.1	+	4	2214	c.1841C>T	c.(1840-1842)TCA>TTA	p.S614L	ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	614					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCATCCTCAGCCCCCTCA	0.478		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.038147	0	7	169		Valid		
ARID1A	8289	broad.mit.edu	37	1	27059260	27059260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059260C>T	uc001bmv.1	+	4	2270	c.1897C>T	c.(1897-1899)CAG>TAG	p.Q633*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q250*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	633					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTGAGCCTTCAGTCAAGACC	0.488		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.132662	0	14	170		Valid		
RLF	6018	broad.mit.edu	37	1	40661404	40661404	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:40661404T>G	uc001cfc.3	+	4	606	c.575T>G	c.(574-576)ATT>AGT	p.I192S		NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	192					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTTAAAATTCTGTCTCAA	0.368		NaN											0	0	0	0.02938	0	5	47				
ECHDC2	55268	broad.mit.edu	37	1	53370432	53370432	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:53370432C>G	uc001cup.3	-	7	834	c.588G>C	c.(586-588)CTG>CTC	p.L196L	ECHDC2_uc001cun.2_Silent_p.L119L|ECHDC2_uc001cuo.3_Silent_p.L165L|ECHDC2_uc010onk.1_Silent_p.L150L	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	196					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						CAGTTCCACTCAGTCGTCGGC	0.677		NaN											0	0	0	0.105934	0	12	64				
CD58	965	broad.mit.edu	37	1	117078842	117078842	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:117078842G>C	uc001egm.2	-	3	494	c.373C>G	c.(373-375)CCA>GCA	p.P125A	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.P125A|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.P125A	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	125	Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTGGGAGATGGAAGAGACTCT	0.358		NaN											0	0	0	0.014758	0	5	36				
NUDT17	200035	broad.mit.edu	37	1	145588986	145588986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:145588986C>T	uc001eoe.2	-	2	270	c.262G>A	c.(262-264)GAT>AAT	p.D88N	NBPF10_uc001emp.3_Intron|NUDT17_uc001eof.1_Missense_Mutation_p.D148N	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety	88							hydrolase activity|metal ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACACCTCGATCTGTGGGCAGC	0.637		NaN									OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.115264	0	3	15				
KIF14	9928	broad.mit.edu	37	1	200571154	200571154	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:200571154C>G	uc010ppk.1	-	11	2461	c.2022G>C	c.(2020-2022)ATG>ATC	p.M674I	KIF14_uc010ppj.1_Missense_Mutation_p.M183I	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	674					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCGTAGCAATCATTGCAGTTT	0.348		NaN											0	0	0	0.160694	0	15	83				
OR2L2	26246	broad.mit.edu	37	1	248202245	248202245	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:248202245C>T	uc001idw.2	+	1	772	c.676C>T	c.(676-678)CGC>TGC	p.R226C	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTGTCTACCGCATGCACTC	0.488		NaN											0	0	0	0.163468	0	33	191				
ITGA8	8516	broad.mit.edu	37	10	15614236	15614236	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:15614236G>A	uc001ioc.1	-	25	2611	c.2611C>T	c.(2611-2613)CCT>TCT	p.P871S	ITGA8_uc010qcb.1_Missense_Mutation_p.P856S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	871	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TTGATATTAGGATTTGGTTGG	0.413		NaN											0	0	0	0.076483	0	20	85				
OR13A1	79290	broad.mit.edu	37	10	45799078	45799078	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:45799078C>T	uc001jcc.1	-	4	1102	c.793G>A	c.(793-795)GTG>ATG	p.V265M	OR13A1_uc001jcd.1_Missense_Mutation_p.V261M	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGCACACCACGGTGAGGTGG	0.572		NaN											0	0	0	0.086207	0	39	96				
ARHGAP22	58504	broad.mit.edu	37	10	49667753	49667753	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:49667753G>A	uc001jgt.2	-	5	930	c.633C>T	c.(631-633)GAC>GAT	p.D211D	ARHGAP22_uc001jgs.2_Silent_p.D121D|ARHGAP22_uc001jgu.2_Silent_p.D227D|ARHGAP22_uc010qgl.1_Silent_p.D168D|ARHGAP22_uc010qgm.1_Silent_p.D217D|ARHGAP22_uc001jgv.2_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	211	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						TCTCCCCACAGTCGAAGGAAT	0.617		NaN											0	0	0	0.160694	0	17	171				
MGEA5	10724	broad.mit.edu	37	10	103547231	103547231	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:103547231A>G	uc001ktv.2	-	15	2947	c.2504T>C	c.(2503-2505)TTC>TCC	p.F835S	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.F782S|MGEA5_uc009xws.2_Missense_Mutation_p.F768S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	835	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATTAGCAAGGAAAGTTTCTGG	0.383		NaN											0	0	0	0.038147	0	8	101				
CCKBR	887	broad.mit.edu	37	11	6291461	6291461	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:6291461G>A	uc001mcp.2	+	3	740	c.547G>A	c.(547-549)GGA>AGA	p.G183R	CCKBR_uc001mcq.2_Missense_Mutation_p.G111R|CCKBR_uc001mcr.2_Missense_Mutation_p.G183R|CCKBR_uc001mcs.2_Missense_Mutation_p.G183R|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	183	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGTCCGGACTACTCAT	0.667		NaN											0	0	0	0.146539	0	14	70				
USH1C	10083	broad.mit.edu	37	11	17553040	17553040	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:17553040C>T	uc001mnf.2	-	3	263	c.154G>A	c.(154-156)GAA>AAA	p.E52K	USH1C_uc001mne.2_Missense_Mutation_p.E52K|USH1C_uc009yhb.2_Missense_Mutation_p.E52K|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.E16K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	52					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						CGGCTGGGTTCATTGATGACC	0.617		NaN											0	0	0	0.105934	0	9	46				
RAB3IL1	5866	broad.mit.edu	37	11	61675662	61675662	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:61675662G>C	uc001nso.2	-	2	286	c.128C>G	c.(127-129)TCT>TGT	p.S43C	RAB3IL1_uc001nsp.2_Missense_Mutation_p.S90C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	43							protein binding			skin(2)|central_nervous_system(1)	3						CTCCCCTGCAGAGGTCTCCAC	0.711		NaN											0	0	0	0.115264	0	3	11				
MAP4K2	5871	broad.mit.edu	37	11	64557669	64557669	+	Missense_Mutation	SNP	C	C	G	rs148398112		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64557669C>G	uc001obh.2	-	29	2331	c.2239G>C	c.(2239-2241)GAG>CAG	p.E747Q	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.E739Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	747	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CCCACAGTCTCGATGGGGAAA	0.617		NaN											0	0	0	0.09319	0	12	79				
ATG2A	23130	broad.mit.edu	37	11	64662776	64662776	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64662776C>T	uc001obx.2	-	40	5681	c.5566G>A	c.(5566-5568)GAC>AAC	p.D1856N	uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.D621N	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1856							protein binding			ovary(1)|central_nervous_system(1)	2						CGCACTGTGTCGTAGGCCTTG	0.706		NaN											0	0	0	0.021553	0	4	98				
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:71949087C>A	uc001osf.2	+	27	3701	c.3554C>A	c.(3553-3555)GCT>GAT	p.A1185D	INPPL1_uc001osg.2_Missense_Mutation_p.A943D	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TTTCCTTAGGCTCCGTGCCTG	0.657		NaN									OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.000602214	0.014758	0.000622838	4	22				
SLC35F2	54733	broad.mit.edu	37	11	107677535	107677535	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:107677535C>T	uc001pjq.2	-	4	903	c.482G>A	c.(481-483)AGA>AAA	p.R161K	SLC35F2_uc010rvu.1_Missense_Mutation_p.R13K|SLC35F2_uc001pjs.2_Missense_Mutation_p.R161K	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	161					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GTGGATCACTCTGTATCTTGC	0.458		NaN											0	0	0	0.160694	0	16	90				
SDHD	6392	broad.mit.edu	37	11	111959637	111959637	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:111959637C>T	uc001pmz.2	+	3	277	c.216C>T	c.(214-216)GTC>GTT	p.V72V	TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank	NM_003002	NP_002993	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D	72	Helical; (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	AGAGGGTTGTCAGTGTTTTGC	0.498		NaN	Mis|N|F|S			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				0	0	0	0.062417	0	22	63				
APOA4	337	broad.mit.edu	37	11	116692360	116692360	+	Nonsense_Mutation	SNP	G	G	T	rs145317065		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:116692360G>T	uc001pps.1	-	3	518	c.414C>A	c.(412-414)TAC>TAA	p.Y138*		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTGGTCCGCGTagggctcca	0.358		NaN											1	0	0.000978159	0.080935	0.00100478	11	42				
MLL	4297	broad.mit.edu	37	11	118375024	118375024	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:118375024C>T	uc001pta.2	+	27	8431	c.8408C>T	c.(8407-8409)TCA>TTA	p.S2803L	MLL_uc001ptb.2_Missense_Mutation_p.S2806L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2803					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGCTCAGCTCATTGGAGTCA	0.443		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.014758	0	5	165		Valid		
ROBO4	54538	broad.mit.edu	37	11	124755027	124755027	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:124755027G>A	uc001qbg.2	-	17	3051	c.2911C>T	c.(2911-2913)CGG>TGG	p.R971W	ROBO4_uc010sas.1_Missense_Mutation_p.R826W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	971					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTTCCCAGCCGCTGGGTGTGG	0.622		NaN											0	0	0	0.069288	0	17	81				
GALNT8	26290	broad.mit.edu	37	12	4835834	4835834	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:4835834G>C	uc001qne.1	+	2	440	c.348G>C	c.(346-348)ATG>ATC	p.M116I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	116	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						AAACCCAAATGAAACTCTTCC	0.498		NaN											0	0	0	0.115264	0	3	36				
C12orf11	55726	broad.mit.edu	37	12	27077408	27077408	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:27077408C>A	uc001rhk.3	-	7	1221	c.684G>T	c.(682-684)CCG>CCT	p.P228P	C12orf11_uc010sjk.1_Silent_p.P127P	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	228					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					TGGTTAAAACCGGGGACAACT	0.318		NaN											1	0	2.47511e-08	0.134883	2.63198e-08	28	104				
CYP27B1	1594	broad.mit.edu	37	12	58157882	58157882	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:58157882T>G	uc001spz.1	-	7	1366	c.1214A>C	c.(1213-1215)AAT>ACT	p.N405T	CYP27B1_uc001sqa.1_Missense_Mutation_p.N170T	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	405					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TTTACTCACATTTTTGGGGAT	0.458		NaN											0	0	0	0.175082	0	17	44				
KNTC1	9735	broad.mit.edu	37	12	123057784	123057784	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057784G>C	uc001ucv.2	+	26	2398	c.2235G>C	c.(2233-2235)ATG>ATC	p.M745I	KNTC1_uc010taf.1_Missense_Mutation_p.M708I	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	745					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAGTTTACATGAGAGAACATG	0.398		NaN											0	0	0	0.173368	0	33	157				
KNTC1	9735	broad.mit.edu	37	12	123057806	123057806	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057806G>A	uc001ucv.2	+	26	2420	c.2257G>A	c.(2257-2259)GAG>AAG	p.E753K	KNTC1_uc010taf.1_Missense_Mutation_p.E716K	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	753					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTGCAAGAGGAGGAACTTCT	0.378		NaN											0	0	0	0.134883	0	28	153				
DCLK1	9201	broad.mit.edu	37	13	36401843	36401843	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:36401843G>C	uc001uvf.2	-	10	1569	c.1336C>G	c.(1336-1338)CCC>GCC	p.P446A	DCLK1_uc001uve.3_Missense_Mutation_p.P139A|DCLK1_uc010teh.1_Missense_Mutation_p.P139A|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	446	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACGATATTGGGATGCTTCACT	0.388		NaN											0	0	0	0.132662	0	15	105				
LPAR6	10161	broad.mit.edu	37	13	48985928	48985928	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:48985928A>C	uc010acu.2	-	1	1726	c.632T>G	c.(631-633)TTA>TGA	p.L211*	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Nonsense_Mutation_p.L211*|LPAR6_uc001vcf.2_Nonsense_Mutation_p.L211*	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	211	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						AGGTTTGGTTAAAGTTTTTAG	0.264		NaN											0	0	0	0.069234	0	10	61				
CIDEB	27141	broad.mit.edu	37	14	24776597	24776597	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:24776597G>A	uc001won.2	-	2	290	c.166C>T	c.(166-168)CGC>TGC	p.R56C	CIDEB_uc001woo.2_Missense_Mutation_p.R56C|CIDEB_uc001wop.2_Missense_Mutation_p.R56C|LTB4R2_uc001woq.1_5'Flank|LTB4R2_uc010alo.2_5'Flank|LTB4R2_uc001wor.2_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	56	CIDE-N.				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		AGCTCCTGGCGGGTGGCAGCT	0.587		NaN											0	0	0	0.146539	0	15	114				
PTGDR	5729	broad.mit.edu	37	14	52735281	52735281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:52735281G>A	uc001wzq.2	+	1	851	c.749G>A	c.(748-750)GGG>GAG	p.G250E		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	250	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCGCGGACGGGAGGGAAGCG	0.667		NaN											0	0	0	0.183431	0	36	148				
GPHB5	122876	broad.mit.edu	37	14	63784372	63784372	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:63784372C>T	uc010apu.2	-	1	192	c.192G>A	c.(190-192)GTG>GTA	p.V64V	GPHB5_uc001xgc.2_Silent_p.V54V	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	glycoprotein beta 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region	hormone activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCCCAGGTCTCACAGCGACCC	0.532		NaN											0	0	0	0.02938	0	6	50				
ACTN1	87	broad.mit.edu	37	14	69371375	69371375	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:69371375C>T	uc001xkl.2	-	7	983	c.673G>A	c.(673-675)GAA>AAA	p.E225K	ACTN1_uc010ttb.1_Missense_Mutation_p.E160K|ACTN1_uc001xkm.2_Missense_Mutation_p.E225K|ACTN1_uc001xkn.2_Missense_Mutation_p.E225K|ACTN1_uc001xko.1_Missense_Mutation_p.E160K|ACTN1_uc010ttd.1_Missense_Mutation_p.E204K	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	225	CH 2.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTTCACCTTCGGCATCCAGC	0.567		NaN											0	0	0	0.047766	0	6	114				
INO80	54617	broad.mit.edu	37	15	41372084	41372084	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:41372084T>A	uc001zni.2	-	9	1159	c.946A>T	c.(946-948)AAG>TAG	p.K316*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	316	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CGCACCTCCTTCATGCACTGG	0.527		NaN											0	0	0	0.144211	0	30	200				
SPG11	80208	broad.mit.edu	37	15	44876169	44876169	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876169A>C	uc001ztx.2	-	30	5740	c.5709T>G	c.(5707-5709)TTT>TTG	p.F1903L	SPG11_uc010bdw.2_Missense_Mutation_p.F192L|SPG11_uc010ueh.1_Missense_Mutation_p.F1903L|SPG11_uc010uei.1_Missense_Mutation_p.F1903L|SPG11_uc001zty.1_Missense_Mutation_p.F632L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1903	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGGATTATAAAAATGAAAAT	0.473		NaN											0	0	0	0.160694	0	16	65				
SPG11	80208	broad.mit.edu	37	15	44876180	44876180	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876180A>C	uc001ztx.2	-	30	5729	c.5698T>G	c.(5698-5700)TAT>GAT	p.Y1900D	SPG11_uc010bdw.2_Missense_Mutation_p.Y189D|SPG11_uc010ueh.1_Missense_Mutation_p.Y1900D|SPG11_uc010uei.1_Missense_Mutation_p.Y1900D|SPG11_uc001zty.1_Missense_Mutation_p.Y629D	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1900	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATGAAAATACCGGCATACT	0.473		NaN											0	0	0	0.175082	0	17	73				
CSNK1G1	53944	broad.mit.edu	37	15	64496768	64496768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:64496768G>A	uc002anf.2	-	9	1351	c.871C>T	c.(871-873)CGA>TGA	p.R291*	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anj.2_Nonsense_Mutation_p.R273*	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	291	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						CTGACATATCGAAGGTAGGTT	0.448		NaN											0	0	0	0.021553	0	4	148				
CD276	80381	broad.mit.edu	37	15	73994784	73994784	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:73994784G>A	uc002avv.1	+	3	502	c.268G>A	c.(268-270)GCC>ACC	p.A90T	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.A90T|CD276_uc002avw.1_Missense_Mutation_p.A90T|CD276_uc010ulb.1_Missense_Mutation_p.A36T|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	90	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						CAGCGCCTATGCCAACCGCAC	0.642		NaN											0	0	0	0.014758	0	5	60				
AGBL1	123624	broad.mit.edu	37	15	87217600	87217600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:87217600C>T	uc002blz.1	+	22	3096	c.3016C>T	c.(3016-3018)CAG>TAG	p.Q1006*		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1006					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CTGCAGCCATCAGCTCCTGGC	0.562		NaN											0	0	0	0.02938	0	7	24				
MSLNL	401827	broad.mit.edu	37	16	823284	823284	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:823284C>T	uc002cjz.1	-	10	1984	c.1984G>A	c.(1984-1986)GCC>ACC	p.A662T		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	311	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CGCAGCGTGGCGGCCGTGATG	0.652		NaN											0	0	0	0.146539	0	17	80				
ZNF597	146434	broad.mit.edu	37	16	3486866	3486866	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:3486866T>G	uc002cvd.2	-	4	1017	c.833A>C	c.(832-834)AAT>ACT	p.N278T		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGTTTCTCATTAAAATGTTT	0.443		NaN											0	0	0	0.080422	0	36	204				
C16orf89	146556	broad.mit.edu	37	16	5110356	5110356	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:5110356G>A	uc010bud.2	-	3	642	c.554C>T	c.(553-555)ACG>ATG	p.T185M	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.T185M	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	147						extracellular region				ovary(1)|skin(1)	2						GGGCCCGAACGTGGGGTACAC	0.597		NaN											0	0	0	0.11911	0	14	69				
UMOD	7369	broad.mit.edu	37	16	20352631	20352631	+	Silent	SNP	G	G	A	rs144461487		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:20352631G>A	uc002dgz.2	-	7	1488	c.1359C>T	c.(1357-1359)ACC>ACT	p.T453T	UMOD_uc002dha.2_Silent_p.T453T|UMOD_uc002dhb.2_Silent_p.T486T	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	453	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						TGAACATGCCGGTCCCGCCCA	0.587		NaN											0	0	0	0.043863	0	17	79				
CDH8	1006	broad.mit.edu	37	16	61891104	61891104	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:61891104C>A	uc002eog.1	-	4	838	c.586G>T	c.(586-588)GAC>TAC	p.D196Y	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	196	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAACTGGGTCATCAGCGTCG	0.388		NaN											1	0	7.93312e-07	0.11911	8.31876e-07	14	55				
SF3B3	23450	broad.mit.edu	37	16	70575582	70575582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70575582C>T	uc002ezf.2	+	9	1289	c.1078C>T	c.(1078-1080)CAA>TAA	p.Q360*		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	360					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				TTACTTATATCAAATTGCACA	0.413		NaN											0	0	0	0.104719	0	36	214				
HYDIN	54768	broad.mit.edu	37	16	70884498	70884498	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70884498G>A	uc002ezr.2	-	74	12629	c.12501C>T	c.(12499-12501)ATC>ATT	p.I4167I	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4168										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCACATTGCAGATCAAATTAA	0.448		NaN											0	0	0	0.069234	0	10	65				
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:8216353C>T	uc002glc.2	+	3	836	c.715C>T	c.(715-717)CGT>TGT	p.R239C	ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.1_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	239					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CAGGGTCCCCCGTCGGGCCTC	0.706		NaN											0	0	0	0.058154	0	10	170				
MYH2	4620	broad.mit.edu	37	17	10448678	10448678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:10448678G>A	uc010coi.2	-	5	618	c.490C>T	c.(490-492)CAG>TAG	p.Q164*	uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Q164*|MYH2_uc010coj.2_Nonsense_Mutation_p.Q164*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	164	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						AGCATGAACTGATAGGCGTTG	0.532		NaN											0	0	0	0.139131	0	43	283				
MPRIP	23164	broad.mit.edu	37	17	17080692	17080692	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080692G>A	uc002gqu.1	+	21	2981	c.2925G>A	c.(2923-2925)GAG>GAA	p.E975E	MPRIP_uc002gqv.1_Silent_p.E975E|MPRIP_uc002gqw.1_Silent_p.E730E|MPRIP_uc002gqx.1_Silent_p.E1204E|MPRIP_uc002gqy.1_Silent_p.E1204E|MPRIP_uc010cpl.1_Silent_p.E161E|MPRIP_uc010cpm.1_Silent_p.E161E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	975	Potential.					cytoplasm|cytoskeleton	actin binding				0						CACTGGGGGAGAAGTCCCCTG	0.577		NaN											0	0	0	0.021553	0	6	90				
MPRIP	23164	broad.mit.edu	37	17	17080713	17080713	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080713G>A	uc002gqu.1	+	21	3002	c.2946G>A	c.(2944-2946)ACG>ACA	p.T982T	MPRIP_uc002gqv.1_Silent_p.T982T|MPRIP_uc002gqw.1_Silent_p.T737T|MPRIP_uc002gqx.1_Silent_p.T1211T|MPRIP_uc002gqy.1_Silent_p.T1211T|MPRIP_uc010cpl.1_Silent_p.T168T|MPRIP_uc010cpm.1_Silent_p.T168T	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	982						cytoplasm|cytoskeleton	actin binding				0						ACAGTGCCACGGTGTCCGGAT	0.587		NaN											0	0	0	0.021553	0	6	72				
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:61568636G>A	uc002jau.1	+	19	2828	c.2806G>A	c.(2806-2808)GTG>ATG	p.V936M	ACE_uc002jav.1_Missense_Mutation_p.V362M|ACE_uc010ddv.1_Missense_Mutation_p.V163M|ACE_uc010wpj.1_Missense_Mutation_p.V362M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182M	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	936	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617		NaN											0	0	0	0.09319	0	13	101				
CCDC40	55036	broad.mit.edu	37	17	78022498	78022498	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78022498G>A	uc010dht.2	+	5	820	c.793G>A	c.(793-795)GAG>AAG	p.E265K	CCDC40_uc010wub.1_Missense_Mutation_p.E265K|CCDC40_uc002jxm.3_Missense_Mutation_p.E48K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	265					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGGAGTCCGAGGGGAGTGA	0.612		NaN											0	0	0	0.038147	0	8	52				
RPTOR	57521	broad.mit.edu	37	17	78704398	78704398	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78704398G>A	uc002jyt.1	+	5	1351	c.546G>A	c.(544-546)CTG>CTA	p.L182L	RPTOR_uc002jys.2_Silent_p.L182L|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.L182L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	182					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TATATGACCTGCAGACGTGGA	0.532		NaN											0	0	0	0.11911	0	13	94				
C18orf8	29919	broad.mit.edu	37	18	21110070	21110070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:21110070C>T	uc010xax.1	+	18	1694	c.1573C>T	c.(1573-1575)CAC>TAC	p.H525Y	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.H149Y|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	525	Mic1.									ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTGCAGTACCACGTCCTCAG	0.393		NaN											0	0	0	0.139131	0	46	421				
HRH4	59340	broad.mit.edu	37	18	22048844	22048844	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22048844C>G	uc002kvi.2	+	2	386	c.286C>G	c.(286-288)CTG>GTG	p.L96V	HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	96	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TACTGACTATCTGTTATGTAC	0.408		NaN											0	0	0	0.049695	0	20	71				
ZNF521	25925	broad.mit.edu	37	18	22805418	22805418	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22805418T>C	uc002kvk.2	-	4	2711	c.2464A>G	c.(2464-2466)ATT>GTT	p.I822V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.I822V|ZNF521_uc002kvl.2_Missense_Mutation_p.I602V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	822	C2H2-type 20.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTAACAAAATGATCGCATGG	0.468		NaN	T	PAX5	ALL								0	0	0	0.175082	0	18	200				
PALM	5064	broad.mit.edu	37	19	746578	746578	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:746578G>A	uc002lpm.1	+	9	1122	c.928G>A	c.(928-930)GAT>AAT	p.D310N	PALM_uc002lpn.1_Missense_Mutation_p.D266N|PALM_uc010xfu.1_Missense_Mutation_p.D175N	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	310					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAACGTGGAGGATGAGGCCGA	0.657		NaN											0	0	0	0.080935	0	9	40				
SYCE2	256126	broad.mit.edu	37	19	13029049	13029049	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:13029049C>T	uc002mvr.2	-	2	133	c.118G>A	c.(118-120)GGA>AGA	p.G40R		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	40					cell division	central element					0						GCTGGCCCTCCACCAGCTTCC	0.597		NaN											0	0	0	0.09319	0	11	69				
MLL4	9757	broad.mit.edu	37	19	36211795	36211795	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:36211795A>G	uc010eei.2	+	3	1546	c.1546A>G	c.(1546-1548)AAA>GAA	p.K516E		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	516	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTGGCCCCCAAAAGCACCAC	0.622		NaN											0	0	0	0.014758	0	5	16		Valid		
PAF1	54623	broad.mit.edu	37	19	39876761	39876761	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:39876761C>G	uc002old.2	-	14	1641	c.1466G>C	c.(1465-1467)GGT>GCT	p.G489A	PAF1_uc002ole.1_Missense_Mutation_p.V418L	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	489					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGCTGGCCACCCCCATTGCT	0.617		NaN											0	0	0	0.09319	0	7	85				
KLK1	3816	broad.mit.edu	37	19	51323464	51323464	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:51323464C>G	uc002ptk.1	-	3	481	c.442G>C	c.(442-444)GAA>CAA	p.E148Q	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	148	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCACTTCGGGTTCCTCG	0.607		NaN											0	0	0	0.083992	0	14	106				
SMYD1	150572	broad.mit.edu	37	2	88409880	88409880	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:88409880G>A	uc002ssr.2	+	10	1324	c.1322G>A	c.(1321-1323)CGG>CAG	p.R441Q	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R137Q	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CAGGCCATGCGGGTGCAGACG	0.532		NaN											0	0	0	0.069234	0	10	24				
RND3	390	broad.mit.edu	37	2	151326590	151326590	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:151326590G>A	uc002txe.2	-	5	890	c.646C>T	c.(646-648)CGG>TGG	p.R216W	RND3_uc002txf.2_Missense_Mutation_p.R215W|RND3_uc002txg.2_Missense_Mutation_p.R216W|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.R79W	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	216					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTGAAATCCGCTTTGTGGCT	0.438		NaN											0	0	0	0.038147	0	8	150				
SPC25	57405	broad.mit.edu	37	2	169732631	169732631	+	Silent	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:169732631A>G	uc002uel.2	-	5	533	c.402T>C	c.(400-402)TCT>TCC	p.S134S		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	134	Potential.|Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)	1						ACAAGTCTGCAGATTTCTGCA	0.284		NaN											0	0	0	0.115264	0	3	40				
RFTN2	130132	broad.mit.edu	37	2	198540158	198540158	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:198540158C>T	uc002uuo.3	-	1	427	c.25G>A	c.(25-27)GAA>AAA	p.E9K		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	9						plasma membrane					0						TCAGGGTCTTCTAGCTTTCTA	0.423		NaN											0	0	0	0.139131	0	74	189				
FLRT3	23767	broad.mit.edu	37	20	14307451	14307451	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:14307451C>G	uc002wov.1	-	3	1169	c.702G>C	c.(700-702)CGG>CGC	p.R234R	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.R234R	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	234	Extracellular (Potential).|LRR 8.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCAGGGAATTCCGCACCAGGG	0.443		NaN											0	0	0	0.105934	0	12	99				
GINS1	9837	broad.mit.edu	37	20	25405846	25405846	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25405846G>A	uc002wuv.1	+	5	465	c.331_splice	c.e5-1	p.M111_splice	GINS1_uc010zte.1_Splice_Site	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1						DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2						TATGTTTGCAGATGGAGTGGT	0.363		NaN											0	0	0	0.083992	0	24	89				
ZNF337	26152	broad.mit.edu	37	20	25666702	25666702	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25666702C>T	uc002wva.2	-	2	606	c.84G>A	c.(82-84)CTG>CTA	p.L28L	ZNF337_uc010ztg.1_Silent_p.L28L|ZNF337_uc002wvb.2_Silent_p.L28L|ZNF337_uc002wvc.2_Silent_p.L28L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGGGCTCAGCAGCCTCCATT	0.547		NaN											0	0	0	0.131918	0	40	268				
BPIL1	80341	broad.mit.edu	37	20	31606901	31606901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:31606901C>G	uc002wyj.2	+	10	1083	c.889C>G	c.(889-891)CTG>GTG	p.L297V		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	297						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						CACCTCTGCTCTGGGCCGGCT	0.567		NaN											0	0	0	0.134883	0	27	203				
SEMG1	6406	broad.mit.edu	37	20	43836572	43836572	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:43836572A>G	uc002xni.2	+	2	691	c.634A>G	c.(634-636)AAT>GAT	p.N212D	SEMG1_uc002xnj.2_Missense_Mutation_p.N212D|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.N212D	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	212	42 AA repeat 1.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				TGAGACTAAAAATTCTCATCA	0.408		NaN											0	0	0	0.09319	0	12	137				
CDH22	64405	broad.mit.edu	37	20	44879792	44879792	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:44879792C>T	uc002xrm.2	-	1	543	c.142G>A	c.(142-144)GGA>AGA	p.G48R	CDH22_uc010ghk.1_Missense_Mutation_p.G48R	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	48	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TGCCGAGCTCCGGGCGCCGAC	0.587		NaN											0	0	0	0.049695	0	14	15				
PDXK	8566	broad.mit.edu	37	21	45173597	45173597	+	Silent	SNP	C	C	T	rs138572525		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:45173597C>T	uc002zdm.3	+	9	954	c.756C>T	c.(754-756)CTC>CTT	p.L252L	PDXK_uc010gpj.2_Silent_p.L252L|PDXK_uc002zdn.3_Silent_p.L224L|PDXK_uc002zdq.3_Silent_p.L179L	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	252					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCAATAACCTCAAGGTCAGCC	0.622		NaN											0	0	0	0.105934	0	14	116				
LSS	4047	broad.mit.edu	37	21	47627356	47627356	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:47627356C>T	uc002zij.2	-	15	1532	c.1453G>A	c.(1453-1455)GAT>AAT	p.D485N	LSS_uc011afv.1_Missense_Mutation_p.D474N|LSS_uc002zil.2_Missense_Mutation_p.D485N|LSS_uc002zik.2_Missense_Mutation_p.D405N	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	485	PFTB 2.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					GCCACAGCATCGCAGAGCCGT	0.612		NaN											0	0	0	0.058154	0	10	17				
C22orf29	79680	broad.mit.edu	37	22	19839452	19839452	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:19839452C>T	uc002zqg.2	-	2	932	c.333G>A	c.(331-333)CCG>CCA	p.P111P	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.P111P|C22orf29_uc002zqi.2_Silent_p.P111P|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	111											0	Colorectal(54;0.0993)					CCAGTAGCCACGGGGAGCCAT	0.607		NaN											0	0	0	0.055883	0	18	133				
ASPHD2	57168	broad.mit.edu	37	22	26839131	26839131	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:26839131G>A	uc003acg.2	+	4	1466	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	357	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						CGCAGCGGCCGAACGGCAGGC	0.607		NaN											0	0	0	0.139131	0	64	303				
LARGE	9215	broad.mit.edu	37	22	34157439	34157439	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:34157439G>A	uc003and.3	-	3	604	c.25C>T	c.(25-27)CGG>TGG	p.R9W	LARGE_uc003ane.3_Missense_Mutation_p.R9W|LARGE_uc010gwp.2_Missense_Mutation_p.R9W|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.R9W	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	9	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				AAGAATTTCCGTCTCCCCCTG	0.532		NaN											0	0	0	0.02938	0	7	163				
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:38329085C>G	uc003aui.2	+	13	2358	c.2274C>G	c.(2272-2274)GTC>GTG	p.V758V		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	758						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632		NaN											0	0	0	0.09319	0	12	91				
KLHDC7B	113730	broad.mit.edu	37	22	50987674	50987674	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:50987674G>A	uc003bmi.2	+	1	1213	c.1079G>A	c.(1078-1080)GGG>GAG	p.G360E		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	360	Kelch 2.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCTGGCGGGGGGCATCCGT	0.667		NaN											0	0	0	0.144211	0	27	123				
CPT1B	1375	broad.mit.edu	37	22	51009598	51009598	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:51009598C>T	uc003bmk.3	-	14	2026	c.1864G>A	c.(1864-1866)GGG>AGG	p.G622R	CPT1B_uc003bml.2_Missense_Mutation_p.G622R|CPT1B_uc003bmm.2_Missense_Mutation_p.G622R|CPT1B_uc003bmo.2_Missense_Mutation_p.G622R|CPT1B_uc011asa.1_Missense_Mutation_p.G588R|CPT1B_uc003bmn.2_Missense_Mutation_p.G622R|CPT1B_uc011asb.1_Missense_Mutation_p.G541R|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.G417R|uc003bmr.1_RNA	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	622	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGTGGGACCCCTCCATCATG	0.612		NaN											0	0	0	0.049695	0	19	109				
HEG1	57493	broad.mit.edu	37	3	124728594	124728594	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:124728594T>C	uc003ehs.3	-	8	3216	c.3148A>G	c.(3148-3150)AAA>GAA	p.K1050E	HEG1_uc011bke.1_Missense_Mutation_p.K1150E	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1050	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						ACCGGGCATTTGCAGATAAAG	0.428		NaN											0	0	0	0.058154	0	9	41				
STAG1	10274	broad.mit.edu	37	3	136088080	136088080	+	Silent	SNP	T	T	C	rs143784838	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:136088080T>C	uc003era.1	-	24	2707	c.2415A>G	c.(2413-2415)CAA>CAG	p.Q805Q	STAG1_uc003erb.1_Silent_p.Q805Q|STAG1_uc003erc.1_Silent_p.Q579Q	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	805					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CTGTCATTAATTGGTGGCTGA	0.393		NaN											0	0	0	0.043863	0	18	84				
RBP2	5948	broad.mit.edu	37	3	139181129	139181129	+	Missense_Mutation	SNP	A	A	G	rs142756165		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:139181129A>G	uc003eth.2	-	2	128	c.77T>C	c.(76-78)ATT>ACT	p.I26T		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	26					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			skin(1)	1					Vitamin A(DB00162)	GGCAAAATCAATATCTGTTGG	0.428		NaN											0	0	0	0.049695	0	19	114				
MLF1	4291	broad.mit.edu	37	3	158314703	158314703	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:158314703G>C	uc003fcb.2	+	3	385	c.248G>C	c.(247-249)AGA>ACA	p.R83T	MLF1_uc003fbz.2_Missense_Mutation_p.R58T|MLF1_uc003fca.2_Missense_Mutation_p.R58T|MLF1_uc003fbx.2_Missense_Mutation_p.R73T|MLF1_uc003fcc.2_Missense_Mutation_p.R114T|MLF1_uc003fby.2_Missense_Mutation_p.R9T|MLF1_uc010hvx.2_Missense_Mutation_p.R58T	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	83	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TCAAATATGAGAAACTATATG	0.299		NaN	T	NPM1	AML								0	0	0	0.132662	0	13	35				
SLC2A2	6514	broad.mit.edu	37	3	170716012	170716012	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:170716012G>A	uc003fhe.1	-	10	1653	c.1344C>T	c.(1342-1344)TTC>TTT	p.F448F	SLC2A2_uc003fhf.1_Silent_p.F275F|SLC2A2_uc011bpu.1_Silent_p.F321F	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	448	Helical; Name=11; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAGCTACAATGAAATTGCAGG	0.458		NaN											0	0	0	0.132662	0	16	88				
SORBS2	8470	broad.mit.edu	37	4	186544867	186544867	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr4:186544867C>A	uc003iyl.2	-	13	2562	c.1704G>T	c.(1702-1704)CGG>CGT	p.R568R	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.R668R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.R472R|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.R682R|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	568						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGCAGCCTCGCCGGCCCCGAG	0.592		NaN											1	0	0.00307968	0.038147	0.0031421	6	56				
IRX1	79192	broad.mit.edu	37	5	3600733	3600733	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:3600733C>T	uc003jde.2	+	3	1375	c.1323C>T	c.(1321-1323)CTC>CTT	p.L441L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	441						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						AGAGAGACCTCGTCCCCAGGC	0.617		NaN											0	0	0	0.058154	0	10	141				
TRIO	7204	broad.mit.edu	37	5	14359563	14359563	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:14359563G>C	uc003jff.2	+	13	2320	c.2314G>C	c.(2314-2316)GAG>CAG	p.E772Q	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E723Q|TRIO_uc003jfh.1_Missense_Mutation_p.E421Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	772					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTCGCAGATGGAGGAGCTCTT	0.617		NaN											0	0	0	0.058154	0	8	104				
TRIM23	373	broad.mit.edu	37	5	64906836	64906836	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:64906836C>A	uc003jty.2	-	5	766	c.680G>T	c.(679-681)CGA>CTA	p.R227L	TRIM23_uc003jtw.2_Missense_Mutation_p.R227L|TRIM23_uc003jtx.2_Missense_Mutation_p.R227L	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	227					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTGATGCTCGGATCTGATT	0.333		NaN											1	0	0.00909568	0.150653	0.00921777	3	51				
MAP1B	4131	broad.mit.edu	37	5	71493610	71493610	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:71493610G>C	uc003kbw.3	+	5	4669	c.4428G>C	c.(4426-4428)AAG>AAC	p.K1476N	MAP1B_uc010iyw.1_Missense_Mutation_p.K1493N|MAP1B_uc010iyx.1_Missense_Mutation_p.K1350N|MAP1B_uc010iyy.1_Missense_Mutation_p.K1350N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1476						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCCAAGAAAAGAAAACTGATG	0.408		NaN											0	0	0	0.083992	0	24	79				
ARSB	411	broad.mit.edu	37	5	78076390	78076390	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78076390C>T	uc003kfq.2	-	8	2718	c.1432G>A	c.(1432-1434)GAT>AAT	p.D478N		NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	478					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGGTCCCGATCAATATCAAAG	0.498		NaN											0	0	0	0.150653	0	4	80				
PAPD4	167153	broad.mit.edu	37	5	78964813	78964813	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78964813C>G	uc010jae.1	+	13	1588	c.1170C>G	c.(1168-1170)CTC>CTG	p.L390L	PAPD4_uc003kgb.2_Silent_p.L390L|PAPD4_uc010jaf.1_Silent_p.L390L|PAPD4_uc003kga.2_Silent_p.L386L|PAPD4_uc003kfz.2_Silent_p.L347L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	390	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTGGGGACCTCTTACTGGGCT	0.318		NaN											0	0	0	0.139131	0	64	197				
CKMT2	1160	broad.mit.edu	37	5	80561982	80561982	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:80561982G>A	uc003khc.3	+	11	1407	c.1165G>A	c.(1165-1167)GAT>AAT	p.D389N	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.D389N|CKMT2_uc003khd.3_Missense_Mutation_p.D389N|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	389	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GATAGTCATCGATGGAGTCAA	0.418		NaN											0	0	0	0.083992	0	26	253				
FER	2241	broad.mit.edu	37	5	108436173	108436173	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:108436173C>T	uc003kop.1	+	17	2385	c.2001C>T	c.(1999-2001)GAC>GAT	p.D667D	FER_uc011cvg.1_Silent_p.D492D	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	667	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTTCATTAGACGCTGCTGCTG	0.348		NaN											0	0	0	0.038147	0	7	65				
PCDHGA1	56114	broad.mit.edu	37	5	140710506	140710506	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140710506C>T	uc003lji.1	+	1	255	c.255C>T	c.(253-255)ATC>ATT	p.I85I	PCDHGA1_uc011dan.1_Silent_p.I85I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	85	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGATCACCGCGCGCA	0.547		NaN											0	0	0	0.083992	0	19	205				
PCDHGA4	56111	broad.mit.edu	37	5	140736823	140736823	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140736823G>T	uc003ljq.1	+	1	2056	c.2056G>T	c.(2056-2058)GAC>TAC	p.D686Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D686Y|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	686	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCAGACGACTCGGGCCT	0.617		NaN											1	0	1.45105e-14	0.175082	1.59933e-14	16	44				
PCDHGB4	8641	broad.mit.edu	37	5	140769617	140769617	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140769617G>C	uc003lkc.1	+	1	2166	c.2166G>C	c.(2164-2166)TGG>TGC	p.W722C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.W722C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	722	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTCCTGGAGCTGCTTCC	0.572		NaN											0	0	0	0.139131	0	42	293				
MDC1	9656	broad.mit.edu	37	6	30673687	30673687	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:30673687C>T	uc003nrg.3	-	10	3713	c.3273G>A	c.(3271-3273)GAG>GAA	p.E1091E	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.E698E	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1091	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						ACAAGGGAGCCTCTGGAGCTT	0.527		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.139131	0	57	378				
BAT1	7919	broad.mit.edu	37	6	31498940	31498940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:31498940G>A	uc003ntt.2	-	9	1643	c.1012C>T	c.(1012-1014)CGA>TGA	p.R338*	BAT1_uc003ntq.2_Nonsense_Mutation_p.R71*|BAT1_uc003ntr.2_Nonsense_Mutation_p.R145*|BAT1_uc003nts.2_Nonsense_Mutation_p.R338*|BAT1_uc011dnn.1_Nonsense_Mutation_p.R260*|BAT1_uc003ntu.2_Nonsense_Mutation_p.R338*|BAT1_uc003ntv.2_Nonsense_Mutation_p.R338*	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	338	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						AGAATTCGTCGTTGAAAATCT	0.418		NaN											0	0	0	0.175082	0	14	73				
GLO1	2739	broad.mit.edu	37	6	38649846	38649846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:38649846G>T	uc003ooc.2	-	5	530	c.408C>A	c.(406-408)TAC>TAA	p.Y136*		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	136					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	TACAAGCACTGTATACATCAG	0.403		NaN											1	0	1.50039e-11	0.062417	1.62992e-11	19	122				
ROS1	6098	broad.mit.edu	37	6	117710590	117710590	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:117710590G>A	uc003pxp.1	-	12	1881	c.1682C>T	c.(1681-1683)CCG>CTG	p.P561L	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	561	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGCTCCTGCGGGCGGCCTGG	0.557		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.160694	0	18	145				
THEMIS	387357	broad.mit.edu	37	6	128150707	128150707	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:128150707T>G	uc003qbi.2	-	4	942	c.623A>C	c.(622-624)AAG>ACG	p.K208T	THEMIS_uc010kfa.2_Missense_Mutation_p.K111T|THEMIS_uc011ebt.1_Missense_Mutation_p.K208T|THEMIS_uc010kfb.2_Missense_Mutation_p.K173T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	208	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						TGAGTCCCACTTATTTGAAAA	0.363		NaN											0	0	0	0.116897	0	28	107				
FUCA2	2519	broad.mit.edu	37	6	143825240	143825240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:143825240G>A	uc003qjm.2	-	3	654	c.562C>T	c.(562-564)CAT>TAT	p.H188Y	FUCA2_uc003qjn.2_5'Flank	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	188					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAGAGCGGATGAAACCATTCA	0.443		NaN											0	0	0	0.062417	0	22	87				
PLEKHG1	57480	broad.mit.edu	37	6	151116991	151116991	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116991G>C	uc003qny.1	+	6	895	c.583_splice	c.e6-1	p.S195_splice	PLEKHG1_uc011eel.1_Splice_Site_p.S235_splice|PLEKHG1_uc011eem.1_Splice_Site_p.S254_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.S195_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTTCCTTGCAGAGTGAAGAGT	0.343		NaN											0	0	0	0.11911	0	14	133				
PLEKHG1	57480	broad.mit.edu	37	6	151116998	151116998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116998G>A	uc003qny.1	+	6	901	c.589G>A	c.(589-591)GAG>AAG	p.E197K	PLEKHG1_uc011eel.1_Missense_Mutation_p.E237K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E256K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E197K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	197	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGAGTGAAGAGTTCCACAT	0.358		NaN											0	0	0	0.132662	0	15	138				
SYNE1	23345	broad.mit.edu	37	6	152651857	152651857	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:152651857T>C	uc010kiw.2	-	78	14565	c.13963A>G	c.(13963-13965)ATT>GTT	p.I4655V	SYNE1_uc003qot.3_Missense_Mutation_p.I4584V|SYNE1_uc003qou.3_Missense_Mutation_p.I4655V|SYNE1_uc010kiz.2_Missense_Mutation_p.I410V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4655	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCAACAATTACATTAAAT	0.428		NaN								HNSCC(10;0.0054)			0	0	0	0.160694	0	17	117				
SUN1	23353	broad.mit.edu	37	7	897568	897568	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:897568G>A	uc011jvp.1	+	14	1577	c.1498G>A	c.(1498-1500)GAG>AAG	p.E500K	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.E417K|SUN1_uc011jvq.1_Missense_Mutation_p.E397K|SUN1_uc003sjg.2_Missense_Mutation_p.E405K|SUN1_uc011jvr.1_Missense_Mutation_p.E298K|SUN1_uc003sji.2_Missense_Mutation_p.E338K|SUN1_uc003sjk.2_Missense_Mutation_p.E139K	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	527	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GACCGGCTGTGAGACAGTGGA	0.468		NaN											0	0	0	0.139131	0	91	218				
ACHE	43	broad.mit.edu	37	7	100489998	100489998	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100489998C>T	uc003uxd.2	-	2	1666	c.1510G>A	c.(1510-1512)GCC>ACC	p.A504T	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.A504T|ACHE_uc003uxf.2_Missense_Mutation_p.A504T|ACHE_uc003uxg.2_Missense_Mutation_p.A504T|ACHE_uc003uxh.2_Missense_Mutation_p.A416T|ACHE_uc003uxi.2_Missense_Mutation_p.A504T	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	504					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGTCGCTGGGCGAAGATTTTC	0.627		NaN											0	0	0	0.132662	0	13	80				
TAS2R16	50833	broad.mit.edu	37	7	122635518	122635518	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:122635518G>A	uc003vkl.1	-	1	237	c.171C>T	c.(169-171)TTC>TTT	p.F57F		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	57	Helical; Name=2; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						ACTGTAGACAGAAGCGAGAGA	0.428		NaN											0	0	0	0.083992	0	25	73				
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:148484186G>A	uc010lpg.2	+	13	1979	c.1453G>A	c.(1453-1455)GAA>AAA	p.E485K	CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.398		NaN											0	0	0	0.134883	0	30	72				
MTMR9	66036	broad.mit.edu	37	8	11172556	11172556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:11172556G>T	uc003wtm.2	+	7	1494	c.1096G>T	c.(1096-1098)GAA>TAA	p.E366*	MTMR9_uc010lrx.2_Nonsense_Mutation_p.E259*|MTMR9_uc011kxa.1_Nonsense_Mutation_p.E281*	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	366	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGCCCTGATTGAAAGAGAGTG	0.488		NaN											1	0	6.38683e-12	0.134883	6.98849e-12	25	125				
INTS9	55756	broad.mit.edu	37	8	28651378	28651378	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:28651378A>G	uc003xha.2	-	10	1282	c.983T>C	c.(982-984)TTC>TCC	p.F328S	INTS9_uc011lav.1_Missense_Mutation_p.F304S|INTS9_uc011law.1_Missense_Mutation_p.F307S|INTS9_uc011lax.1_Missense_Mutation_p.F221S|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.F328S	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	328					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGGGGAGATGAAGTAGAGGGG	0.468		NaN											0	0	0	0.02938	0	7	110				
GSR	2936	broad.mit.edu	37	8	30537169	30537169	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:30537169C>T	uc003xih.1	-	13	1528	c.1437G>A	c.(1435-1437)ATG>ATA	p.M479I		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	479					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CAAGTCCCTGCATATGGATCC	0.343		NaN											0	0	0	0.038147	0	8	89				
ANK1	286	broad.mit.edu	37	8	41581117	41581117	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:41581117C>T	uc003xok.2	-	8	830	c.746G>A	c.(745-747)AGG>AAG	p.R249K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R249K|ANK1_uc003xoj.2_Missense_Mutation_p.R249K|ANK1_uc003xol.2_Missense_Mutation_p.R249K|ANK1_uc003xom.2_Missense_Mutation_p.R282K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	249	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTTGCCCCTGCGGGAGGC	0.637		NaN											0	0	0	0.150653	0	4	107				
DNM1	1759	broad.mit.edu	37	9	130986561	130986561	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:130986561G>C	uc011mau.1	+	10	1315	c.1228G>C	c.(1228-1230)GAG>CAG	p.E410Q	DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Missense_Mutation_p.E410Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	410					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						CATGGCCTTTGAGACCATTGT	0.408		NaN											0	0	0	0.09319	0	9	115				
COL5A1	1289	broad.mit.edu	37	9	137664657	137664657	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:137664657C>T	uc004cfe.2	+	26	2690	c.2308C>T	c.(2308-2310)CCT>TCT	p.P770S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	770	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAAGAAGGCCCTCCAGGAGA	0.607		NaN											0	0	0	0.11911	0	11	131				
DDX53	168400	broad.mit.edu	37	X	23019072	23019072	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019072C>A	uc004daj.2	+	1	986	c.898C>A	c.(898-900)CTA>ATA	p.L300I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	300	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						GCCTGGGATGCTAGTCCTTAC	0.418		NaN											1	0	3.59834e-05	0.021553	3.74723e-05	4	64				
DDX53	168400	broad.mit.edu	37	X	23019219	23019219	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019219A>T	uc004daj.2	+	1	1133	c.1045A>T	c.(1045-1047)ATT>TTT	p.I349F		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	349	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						TGTAGATATCATTATTGCAAC	0.353		NaN											0	0	0	0.021553	0	4	84				
MED12	9968	broad.mit.edu	37	X	70339981	70339981	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:70339981G>C	uc004dyy.2	+	4	713	c.514G>C	c.(514-516)GAG>CAG	p.E172Q	MED12_uc011mpq.1_Missense_Mutation_p.E172Q|MED12_uc004dyz.2_Missense_Mutation_p.E172Q|MED12_uc004dza.2_Missense_Mutation_p.E19Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	172					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					AGCAATCTCTGAGACCAAGGT	0.488		NaN											0	0	0	0.125774	0	27	53				
PHF6	84295	broad.mit.edu	37	X	133512098	133512098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:133512098G>T	uc004exj.2	+	3	404	c.202G>T	c.(202-204)GAA>TAA	p.E68*	PHF6_uc004exk.2_Nonsense_Mutation_p.E68*|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Nonsense_Mutation_p.E68*|PHF6_uc010nrr.2_Nonsense_Mutation_p.E68*|PHF6_uc004exi.2_Nonsense_Mutation_p.E68*	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCTATTGAAGATGTCCA	0.299		NaN											1	0	7.41877e-09	0.062417	7.94565e-09	17	48				
MAGEA1	4100	broad.mit.edu	37	X	152482885	152482885	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:152482885G>A	uc004fhf.2	-	3	346	c.126C>T	c.(124-126)ACC>ACT	p.T42T		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	42						cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCAGGGTGCCCAGGA	0.627		NaN											0	0	0	0.074837	0	39	109				
SAMD11	148398	broad.mit.edu	37	1	871255	871255	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:871255G>A	uc001abw.1	+	5	489	c.409G>A	c.(409-411)GAG>AAG	p.E137K	SAMD11_uc001abv.1_Missense_Mutation_p.E137K|SAMD11_uc001abx.1_Missense_Mutation_p.E16K	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	137						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGCAGCCTGGAGATTGGCCT	0.677		NaN											0	0	0	0.013726	0	32	33				
TNFRSF4	7293	broad.mit.edu	37	1	1148065	1148065	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1148065T>C	uc001ade.2	-	4	395	c.390A>G	c.(388-390)CCA>CCG	p.P130P	TNFRSF4_uc001adf.2_Silent_p.P134P	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	130	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAAGTGCCCTGGAGGGCAGG	0.557		NaN											0	0	0	0.008291	0	8	9				
CDK11B	984	broad.mit.edu	37	1	1572863	1572863	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1572863C>A	uc001agv.1	-	18	1588	c.1477G>T	c.(1477-1479)GGC>TGC	p.G493C	CDK11B_uc009vkj.2_Missense_Mutation_p.G150C|CDK11B_uc001ags.1_Missense_Mutation_p.G351C|CDK11B_uc001agt.1_Missense_Mutation_p.G276C|CDK11B_uc001aha.1_Missense_Mutation_p.G459C|CDK11B_uc001agw.1_Missense_Mutation_p.G448C|CDK11B_uc001agy.1_Missense_Mutation_p.G491C|CDK11B_uc001agx.1_Missense_Mutation_p.G482C|CDK11B_uc001agz.1_Missense_Mutation_p.G237C	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	506	Protein kinase.		G -> S.		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						ATGTTGCTGCCCACCACAATC	0.602		NaN											1	0	3.59834e-05	0.001168	3.73876e-05	5	44				
TNFRSF9	3604	broad.mit.edu	37	1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	rs143524950		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:7993258G>A	uc001aot.2	-	7	771	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	215	Cytoplasmic (Potential).|Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428		NaN											0	0	0	0.015359	0	34	43				
RERE	473	broad.mit.edu	37	1	8601355	8601355	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:8601355A>C	uc001ape.2	-	8	1558	c.748T>G	c.(748-750)TTT>GTT	p.F250V	RERE_uc001apf.2_Missense_Mutation_p.F250V|RERE_uc001aph.1_Missense_Mutation_p.F250V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	250	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCAGAAAAATGGGAGATG	0.398		NaN											0	0	0	0.01441	0	60	64				
MASP2	10747	broad.mit.edu	37	1	11097837	11097837	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11097837A>G	uc001aru.2	-	7	942	c.921T>C	c.(919-921)CCT>CCC	p.P307P		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	307	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGTGGCCATTAGGTGGCGCCA	0.507		NaN									OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01892	0	25	130				
PRAMEF12	390999	broad.mit.edu	37	1	12835714	12835714	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:12835714C>T	uc001aui.2	+	2	343	c.316C>T	c.(316-318)CGG>TGG	p.R106W		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	106										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGACTTGCGGAATGTGGA	0.512		NaN											0	0	0	0.01441	0	51	333				
CAPZB	832	broad.mit.edu	37	1	19670914	19670914	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:19670914T>C	uc010ocz.1	-	8	1184	c.756A>G	c.(754-756)AAA>AAG	p.K252K	CAPZB_uc001bce.2_Silent_p.K223K|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Silent_p.K211K	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit	223					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TACTTCTGATTTTATTTTCCA	0.438		NaN									OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	31	112				
BMP8B	656	broad.mit.edu	37	1	40228856	40228856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:40228856G>A	uc001cdz.1	-	6	1343	c.967C>T	c.(967-969)CAA>TAA	p.Q323*	PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	323					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGTAGCCTTGGGGAGCGATG	0.622		NaN											0	0	0	0.007835	0	39	142				
FGGY	55277	broad.mit.edu	37	1	59787249	59787249	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:59787249A>T	uc001czi.3	+	2	240	c.28A>T	c.(28-30)AGG>TGG	p.R10W	FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.R10W|FGGY_uc001czj.3_Missense_Mutation_p.R10W|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.R10W	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	10					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					GAAACCAGAGAGGTACTATGT	0.493		NaN											0	0	0	0.006214	0	7	24				
EFCAB7	84455	broad.mit.edu	37	1	64027423	64027423	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:64027423T>C	uc001dbf.2	+	11	1686	c.1392T>C	c.(1390-1392)TTT>TTC	p.F464F		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	464							calcium ion binding				0						GACAAGGATTTATGGATTTGA	0.308		NaN											0	0	0	0.001984	0	5	53				
BCL10	8915	broad.mit.edu	37	1	85741980	85741980	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:85741980T>A	uc001dkz.2	-	2	761	c.56A>T	c.(55-57)GAC>GTC	p.D19V	uc001dla.1_5'Flank	NM_003921	NP_003912	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	19	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			lung(2)	2				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTACTCACGTCCTTCTTCAC	0.682		NaN	T	IGH@	MALT 								0	0	0	0.010818	0	28	99				
MOV10	4343	broad.mit.edu	37	1	113217556	113217556	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:113217556C>G	uc001eck.2	+	2	292	c.22C>G	c.(22-24)CGG>GGG	p.R8G	MOV10_uc001ecl.2_Missense_Mutation_p.R8G|MOV10_uc001ecn.2_Missense_Mutation_p.R8G|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	8					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTTCAGCTGCCGGCAGCTCCG	0.637		NaN											0	0	0	0.00632	0	20	69				
NES	10763	broad.mit.edu	37	1	156639511	156639511	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:156639511T>C	uc001fpq.2	-	4	4602	c.4469A>G	c.(4468-4470)CAG>CGG	p.Q1490R		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1490	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACTGTCCTGGGACTCCGT	0.587		NaN											0	0	0	0.007413	0	20	81				
SELP	6403	broad.mit.edu	37	1	169578782	169578782	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:169578782A>G	uc001ggi.3	-	8	1358	c.1293T>C	c.(1291-1293)GAT>GAC	p.D431D	SELP_uc001ggh.2_Silent_p.D266D|SELP_uc009wvr.2_Silent_p.D431D	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	431	Sushi 4.|Extracellular (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCCAAGTTATCACACCGAA	0.488		NaN											0	0	0	0.01441	0	42	32				
DNM3	26052	broad.mit.edu	37	1	172007570	172007570	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:172007570G>A	uc001gie.2	+	7	1137	c.961G>A	c.(961-963)GAC>AAC	p.D321N	DNM3_uc001gid.3_Missense_Mutation_p.D321N|DNM3_uc009wwb.2_Missense_Mutation_p.D321N|DNM3_uc001gif.2_Missense_Mutation_p.D321N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	321					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CAAACCAGAAGACCCAACAAG	0.418		NaN											0	0	0	0.01441	0	90	78				
XPR1	9213	broad.mit.edu	37	1	180843064	180843064	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843064A>G	uc001goi.2	+	13	1986	c.1794A>G	c.(1792-1794)CCA>CCG	p.P598P	XPR1_uc009wxn.2_Silent_p.P533P	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	598	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TCTTTGCCCCACTTGAGGTTT	0.363		NaN											0	0	0	0.007835	0	40	37				
TRAF5	7188	broad.mit.edu	37	1	211529792	211529792	+	Silent	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:211529792T>A	uc001hih.2	+	4	420	c.360T>A	c.(358-360)GTT>GTA	p.V120V	TRAF5_uc001hii.2_Silent_p.V120V|TRAF5_uc010psx.1_Silent_p.V120V|TRAF5_uc010psy.1_Silent_p.V120V|TRAF5_uc001hij.2_Silent_p.V120V	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	120					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ATGCCAAGGTTATTCTGGGCC	0.378		NaN											0	0	0	0.014323	0	21	154				
CUBN	8029	broad.mit.edu	37	10	16911660	16911660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911660C>T	uc001ioo.2	-	59	9481	c.9429G>A	c.(9427-9429)TGG>TGA	p.W3143*	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.W499*	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3143	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGACATCTTCCAGCCTTTTG	0.448		NaN											0	0	0	0.01441	0	149	201				
CUBN	8029	broad.mit.edu	37	10	16911845	16911845	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911845C>G	uc001ioo.2	-	59	9296	c.9244G>C	c.(9244-9246)GAT>CAT	p.D3082H	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D438H	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3082	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATCAAAATCACTGAACCTG	0.413		NaN											0	0	0	0.006999	0	38	57				
ARMC3	219681	broad.mit.edu	37	10	23290965	23290965	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:23290965A>G	uc001irm.3	+	12	1626	c.1543A>G	c.(1543-1545)AAT>GAT	p.N515D	ARMC3_uc010qcv.1_Missense_Mutation_p.N515D|ARMC3_uc010qcw.1_Missense_Mutation_p.N252D	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	515							binding				0						GCTGACGGCCAATGAATTATG	0.532		NaN											0	0	0	0.020292	0	13	23				
DLG5	9231	broad.mit.edu	37	10	79567584	79567584	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79567584T>G	uc001jzk.2	-	25	4836	c.4766A>C	c.(4765-4767)AAG>ACG	p.K1589T	DLG5_uc001jzi.2_Missense_Mutation_p.K344T|DLG5_uc001jzj.2_Missense_Mutation_p.K1004T|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1589					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCAGGCCCTTGGCCTTCGT	0.572		NaN											0	0	0	0.016522	0	20	129				
POLR3A	11128	broad.mit.edu	37	10	79769683	79769683	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79769683G>A	uc001jzn.2	-	13	1803	c.1709C>T	c.(1708-1710)TCA>TTA	p.S570L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	570					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACCAGTATTGAAGCAATGAT	0.453		NaN											0	0	0	0.008871	0	21	50				
ATRNL1	26033	broad.mit.edu	37	10	117607452	117607452	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:117607452T>G	uc001lcg.2	+	28	4354	c.3968T>G	c.(3967-3969)TTT>TGT	p.F1323C	ATRNL1_uc010qsm.1_Missense_Mutation_p.F452C|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1323	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGACTGTGTTTCTTTGTCTA	0.473		NaN											0	0	0	0.013726	0	30	59				
EIF3A	8661	broad.mit.edu	37	10	120801833	120801833	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:120801833G>A	uc001ldu.2	-	19	3345	c.3199C>T	c.(3199-3201)CGG>TGG	p.R1067W	EIF3A_uc010qsu.1_Missense_Mutation_p.R1033W|EIF3A_uc009xzg.1_Missense_Mutation_p.R106W	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1067	15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGGGACCCCGGTCATCATCA	0.632		NaN											0	0	0	0.01441	0	63	311				
CTBP2	1488	broad.mit.edu	37	10	126727575	126727575	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:126727575T>A	uc009yak.2	-	3	336	c.49A>T	c.(49-51)ATT>TTT	p.I17F	CTBP2_uc009yal.2_Missense_Mutation_p.I17F|CTBP2_uc001lif.3_Missense_Mutation_p.I17F|CTBP2_uc001lih.3_Missense_Mutation_p.I17F	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	17					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTCACAAATTCTGTCCAAT	0.468		NaN											0	0	0	0.010504	0	20	96				
INPP5A	3632	broad.mit.edu	37	10	134579295	134579295	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:134579295G>C	uc001llp.2	+	12	1170	c.922G>C	c.(922-924)GAG>CAG	p.E308Q	INPP5A_uc001llo.1_Missense_Mutation_p.E308Q|INPP5A_uc001llq.2_Missense_Mutation_p.E203Q	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	308					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTTTGACAAGGAGTTGTCTGT	0.502		NaN											0	0	0	0.00632	0	25	84				
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:135369108G>T	uc001lno.2	-	11	928	c.823C>A	c.(823-825)CGG>AGG	p.R275R	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.R147R|SYCE1_uc009ybn.2_Silent_p.R275R|SYCE1_uc001lnn.2_Silent_p.R239R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275	Gln-rich.|Potential.				cell division	central element				ovary(1)	1		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.373		NaN											1	0	2.17888e-05	0.006214	2.275e-05	9	22				
OR51A4	401666	broad.mit.edu	37	11	4967692	4967692	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4967692A>G	uc010qys.1	-	1	639	c.639T>C	c.(637-639)ATT>ATC	p.I213I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.428		NaN											0	0	0	0.021523	0	18	79				
OR51A2	401667	broad.mit.edu	37	11	4976305	4976305	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4976305A>G	uc010qyt.1	-	1	639	c.639T>C	c.(637-639)ATT>ATC	p.I213I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.433		NaN											0	0	0	0.007413	0	14	16				
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:7079645C>T	uc001mfb.1	+	8	2920	c.2597C>T	c.(2596-2598)GCC>GTC	p.A866V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGAGTGATGCCCTGCAACAT	0.363		NaN											0	0	0	0.01441	0	49	58				
COPB1	1315	broad.mit.edu	37	11	14490389	14490389	+	Missense_Mutation	SNP	C	C	A	rs139561241	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:14490389C>A	uc001mli.2	-	16	2290	c.1983G>T	c.(1981-1983)AGG>AGT	p.R661S	COPB1_uc001mlg.2_Missense_Mutation_p.R661S|COPB1_uc001mlh.2_Missense_Mutation_p.R661S	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	661					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						CTGTCACATTCCTCTTTTCAG	0.378		NaN											1	0	1.66251e-12	0.01441	1.76176e-12	47	181				
INSC	387755	broad.mit.edu	37	11	15212291	15212291	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:15212291A>G	uc001mly.2	+	6	811	c.765A>G	c.(763-765)ACA>ACG	p.T255T	INSC_uc001mlz.2_Silent_p.T208T|INSC_uc001mma.2_Silent_p.T208T|INSC_uc010rcs.1_Silent_p.T243T|INSC_uc001mmb.2_Silent_p.T208T|INSC_uc001mmc.2_Silent_p.T208T	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	255					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						TCTACACCACAGAGTCCACCA	0.507		NaN											0	0	0	0.01441	0	107	150				
KCNA4	3739	broad.mit.edu	37	11	30033503	30033503	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:30033503C>T	uc001msk.2	-	2	1875	c.723G>A	c.(721-723)CTG>CTA	p.L241L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	241						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTGGCCTCTTCAGGCGGCCTC	0.498		NaN											0	0	0	0.01441	0	61	99				
MYBPC3	4607	broad.mit.edu	37	11	47359095	47359095	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:47359095G>C	uc001nfa.3	-	24	2504	c.2449C>G	c.(2449-2451)CGG>GGG	p.R817G	MYBPC3_uc010rhl.1_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	816	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CGCATCCACCGGTAGCTCTTC	0.607		NaN											0	0	0	0.006214	0	9	43				
KIAA1377	57562	broad.mit.edu	37	11	101833686	101833686	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:101833686A>T	uc001pgm.2	+	6	2190	c.1920A>T	c.(1918-1920)GAA>GAT	p.E640D	KIAA1377_uc001pgn.2_Missense_Mutation_p.E596D|KIAA1377_uc010run.1_Missense_Mutation_p.E441D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E441D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	640							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCAATATAGAAAACAATGCTG	0.348		NaN											0	0	0	0.016723	0	13	78				
ATM	472	broad.mit.edu	37	11	108218083	108218083	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:108218083A>T	uc001pkb.1	+	59	9047	c.8662A>T	c.(8662-8664)ATA>TTA	p.I2888L	ATM_uc009yxr.1_Missense_Mutation_p.I2888L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I1540L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2888	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.I2888T(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTGTACATATAGATCTAGG	0.303		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.01441	0	53	89		Valid		
CBL	867	broad.mit.edu	37	11	119170369	119170369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:119170369C>T	uc001pwe.2	+	16	2737	c.2599C>T	c.(2599-2601)CAG>TAG	p.Q867*		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	867	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCTCATGAGTCAGGGGTACTC	0.532		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	0.01441	0	267	202				
CD27	939	broad.mit.edu	37	12	6554303	6554304	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:6554303_6554304CC>AG	uc001qod.2	+	1	253_254	c.42_43CC>AG	c.(40-45)ACCCTG>ACAGTG	p.L15V	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity				0						TTCTGGGGACCCTGGTGGGGCT	0.629		NaN											0	0	0	0.004672	0	10	23				
SLCO1B3	28234	broad.mit.edu	37	12	21242857	21242857	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:21242857C>T	uc010sil.1	+	16	2129	c.2064C>T	c.(2062-2064)GGC>GGT	p.G688G	LST-3TM12_uc010sim.1_Silent_p.G627G|LST-3TM12_uc010sin.1_Silent_p.G580G			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CCTTCTTCGGCTTGAAGGTAG	0.299		NaN											0	0	0	0.003163	0	15	48				
ABCC9	10060	broad.mit.edu	37	12	22028606	22028606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:22028606C>G	uc001rfi.1	-	15	2094	c.2074G>C	c.(2074-2076)GAT>CAT	p.D692H	ABCC9_uc001rfh.2_Missense_Mutation_p.D692H|ABCC9_uc001rfj.1_Missense_Mutation_p.D656H	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	692	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATTCGAATATCTATATTGGAT	0.308		NaN											0	0	0	0.016522	0	21	123				
ITPR2	3709	broad.mit.edu	37	12	26492374	26492374	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:26492374C>T	uc001rhg.2	-	57	8479	c.8062G>A	c.(8062-8064)GGA>AGA	p.G2688R		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2688	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GTGTTTGATCCGAGGAAGCCC	0.502		NaN											0	0	0	0.004482	0	7	76				
SLC4A8	9498	broad.mit.edu	37	12	51856143	51856143	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:51856143C>T	uc001rys.1	+	10	1329	c.1151C>T	c.(1150-1152)GCG>GTG	p.A384V	SLC4A8_uc010sni.1_Missense_Mutation_p.A331V|SLC4A8_uc001rym.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryn.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryo.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Missense_Mutation_p.A411V|SLC4A8_uc001ryq.3_Missense_Mutation_p.A384V|SLC4A8_uc001ryr.2_Missense_Mutation_p.A384V|SLC4A8_uc010snk.1_Missense_Mutation_p.A331V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	384	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCTCCTGGCGGGGATTGAT	0.458		NaN											0	0	0	0.013726	0	33	142				
PAN2	9924	broad.mit.edu	37	12	56720613	56720613	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:56720613A>G	uc001skx.2	-	7	1423	c.1050T>C	c.(1048-1050)TCT>TCC	p.S350S	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.S350S|PAN2_uc001sky.2_Silent_p.S350S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	350					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CACAGCCCTCAGAATCCCCAA	0.557		NaN											0	0	0	0.01441	0	165	205				
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:59271541G>C	uc001sqr.2	-	15	2423	c.2177C>G	c.(2176-2178)CCT>CGT	p.P726R	LRIG3_uc009zqh.2_Missense_Mutation_p.P666R|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	726	Ig-like C2-type 3.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488		NaN											0	0	0	0.012213	0	33	119				
XPOT	11260	broad.mit.edu	37	12	64815090	64815090	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:64815090A>G	uc001ssb.2	+	9	1345	c.919A>G	c.(919-921)AGT>GGT	p.S307G	XPOT_uc009zqm.1_Missense_Mutation_p.S217G	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	307	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		AGTTAGTTGGAGTAAATTAAT	0.373		NaN											0	0	0	0.013114	0	47	166				
CNOT2	4848	broad.mit.edu	37	12	70672040	70672040	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:70672040A>T	uc001svv.2	+	2	613	c.34A>T	c.(34-36)AAA>TAA	p.K12*	CNOT2_uc009zro.2_Nonsense_Mutation_p.K12*|CNOT2_uc009zrp.2_5'UTR|CNOT2_uc009zrq.2_Nonsense_Mutation_p.K12*	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTATCTGAGAAAAGAAACTA	0.398		NaN											0	0	0	0.00623	0	38	105				
SLC5A8	160728	broad.mit.edu	37	12	101595946	101595946	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:101595946A>T	uc001thz.3	-	3	855	c.465T>A	c.(463-465)AAT>AAA	p.N155K		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	155	Extracellular (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						ATGTACCTTGATTCAAAGCCA	0.388		NaN											0	0	0	0.012213	0	29	47				
PRDM4	11108	broad.mit.edu	37	12	108140192	108140192	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:108140192A>G	uc001tmp.2	-	6	1573	c.1136T>C	c.(1135-1137)CTG>CCG	p.L379P	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	379					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCGGTCACACAGAGTACACCC	0.428		NaN											0	0	0	0.014758	0	3	104				
NAA25	80018	broad.mit.edu	37	12	112499125	112499125	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:112499125G>A	uc001ttm.2	-	12	1237	c.1217C>T	c.(1216-1218)GCT>GTT	p.A406V	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.A378V|NAA25_uc009zwa.1_Missense_Mutation_p.A406V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	406						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TCTGATGTCAGCAGGCAGTGC	0.458		NaN											0	0	0	0.019004	0	33	36				
GPR133	283383	broad.mit.edu	37	12	131487771	131487771	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:131487771C>T	uc001uit.3	+	10	1627	c.1068C>T	c.(1066-1068)ACC>ACT	p.T356T	GPR133_uc010tbm.1_Silent_p.T388T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	356	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTATTGACACCGTCATGGGCC	0.602		NaN											0	0	0	0.01441	0	52	167				
ANKLE2	23141	broad.mit.edu	37	12	133327289	133327289	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:133327289T>C	uc001ukx.2	-	3	854	c.787A>G	c.(787-789)ACG>GCG	p.T263A	ANKLE2_uc001uky.3_Missense_Mutation_p.T201A	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	263						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGTAAGGACGTTTTGCTTGGA	0.423		NaN											0	0	0	0.01441	0	46	40				
NBEA	26960	broad.mit.edu	37	13	35923273	35923273	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:35923273A>G	uc001uvb.2	+	37	6138	c.5932A>G	c.(5932-5934)ATA>GTA	p.I1978V	NBEA_uc010abi.2_Missense_Mutation_p.I634V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1978						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGGACCATATAGTCCGTGT	0.348		NaN											0	0	0	0.010729	0	10	51				
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:38320157G>A	uc001uws.2	-	3	1049	c.814C>T	c.(814-816)CGA>TGA	p.R272*	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.R272*|TRPC4_uc010tey.1_Nonsense_Mutation_p.R272*|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Nonsense_Mutation_p.R272*|TRPC4_uc010aby.2_Nonsense_Mutation_p.R272*	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	272	Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTCATCTCGGTAATTAAGA	0.418		NaN											0	0	0	0.01441	0	109	281				
SCEL	8796	broad.mit.edu	37	13	78178541	78178541	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:78178541A>G	uc001vki.2	+	19	1318	c.1148A>G	c.(1147-1149)AAT>AGT	p.N383S	SCEL_uc001vkj.2_Missense_Mutation_p.N363S|SCEL_uc010thx.1_Intron	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	383	16 X approximate tandem repeats.|7.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAATAAAAATATTACGAGG	0.333		NaN											0	0	0	0.01441	0	83	182				
LRP10	26020	broad.mit.edu	37	14	23344694	23344694	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:23344694C>T	uc001whd.2	+	5	1090	c.537C>T	c.(535-537)TTC>TTT	p.F179F	LRP10_uc001whe.2_Silent_p.F55F	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	179	Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGACCCCTTCCCTGGCCTGA	0.582		NaN											0	0	0	0.01441	0	71	191				
MIPOL1	145282	broad.mit.edu	37	14	37838794	37838795	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:37838794_37838795CT>GA	uc001wuc.2	+	11	1404_1405	c.901_902CT>GA	c.(901-903)CTG>GAG	p.L301E	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.L270E|MIPOL1_uc001wud.2_Missense_Mutation_p.L301E|MIPOL1_uc010ams.2_Missense_Mutation_p.L301E|MIPOL1_uc001wue.2_Missense_Mutation_p.L270E|MIPOL1_uc010amt.2_Missense_Mutation_p.L120E	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CATGAGACATCTGACTGCTGAA	0.46		NaN											0	0	0	0.004672	0	27	52				
FSIP1	161835	broad.mit.edu	37	15	39910371	39910371	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:39910371T>C	uc001zki.2	-	11	1482	c.1264A>G	c.(1264-1266)ATC>GTC	p.I422V		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	422										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGTTTAATGATGGATTTTTGT	0.368		NaN											0	0	0	0.01441	0	53	65				
IGF1R	3480	broad.mit.edu	37	15	99250976	99250976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:99250976G>A	uc002bul.2	+	2	330	c.280G>A	c.(280-282)GAG>AAG	p.E94K	IGF1R_uc010urq.1_Missense_Mutation_p.E94K|IGF1R_uc010bon.2_Missense_Mutation_p.E94K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	94					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGCTGGCCTCGAGAGCCTCGG	0.577		NaN											0	0	0	0.001984	0	7	62				
NME4	4833	broad.mit.edu	37	16	449378	449378	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:449378G>A	uc002cgz.2	+	3	257	c.226_splice	c.e3-1	p.A76_splice	NME4_uc002cgy.2_Splice_Site_p.A6_splice|NME4_uc002cha.2_Splice_Site|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank	NM_005009	NP_005000	O00746	NDKM_HUMAN	nucleoside diphosphate kinase 4 precursor						CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0		Hepatocellular(16;0.00015)				ATGCCACCCAGGCACCAGAGA	0.607		NaN											0	0	0	0.01441	0	130	282				
C16orf54	283897	broad.mit.edu	37	16	29756070	29756070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:29756070C>T	uc002dtp.2	-	2	312	c.203G>A	c.(202-204)CGT>CAT	p.R68H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	hypothetical protein LOC283897	68						integral to membrane					0						GGTGGGTGCACGGTGGCTGGG	0.677		NaN											0	0	0	0.009096	0	4	3				
ACD	65057	broad.mit.edu	37	16	67692470	67692470	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67692470G>T	uc002etq.3	-	9	1412	c.1075C>A	c.(1075-1077)CCC>ACC	p.P359T	ACD_uc002etp.3_Missense_Mutation_p.P356T|ACD_uc002etr.3_Missense_Mutation_p.P356T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	359	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAACTGGGTGAGGAAGGA	0.617		NaN											1	0	3.28513e-13	0.021523	3.51624e-13	23	107				
CENPT	80152	broad.mit.edu	37	16	67863976	67863976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67863976G>A	uc002eun.3	-	12	1427	c.878C>T	c.(877-879)GCC>GTC	p.A293V	CENPT_uc002eum.3_Missense_Mutation_p.A293V|CENPT_uc010vkc.1_Missense_Mutation_p.A51V|CENPT_uc010vkd.1_Missense_Mutation_p.A46V|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	293					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAAACTGGGCTGGTTTCCC	0.567		NaN											0	0	0	0.009535	0	32	36				
VAC14	55697	broad.mit.edu	37	16	70834774	70834774	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:70834774G>T	uc002ezm.2	-	1	288	c.30C>A	c.(28-30)CTC>CTA	p.L10L	VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	10	HEAT 1.				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				TGTTAGGCGTGAGCGGCGCGA	0.522		NaN											1	0	0.00244969	0.020292	0.0025207	13	109				
FTSJD1	55783	broad.mit.edu	37	16	71319027	71319027	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:71319027A>C	uc010cga.2	-	3	1203	c.797T>G	c.(796-798)CTT>CGT	p.L266R	FTSJD1_uc002ezy.3_Missense_Mutation_p.L266R|FTSJD1_uc002ezz.3_Missense_Mutation_p.L266R	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	266						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						ACCGTTTCCAAGAGTGGTCAG	0.398		NaN											0	0	0	0.008361	0	29	60				
ZZEF1	23140	broad.mit.edu	37	17	3920781	3920781	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:3920781C>T	uc002fxe.2	-	48	7949	c.7885G>A	c.(7885-7887)GAG>AAG	p.E2629K	ZZEF1_uc002fxg.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2629							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTAGGCCACTCGGCGAGCAGG	0.577		NaN											0	0	0	0.012213	0	21	44				
PER1	5187	broad.mit.edu	37	17	8046123	8046123	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:8046123C>T	uc002gkd.2	-	20	3341	c.3103G>A	c.(3103-3105)GCA>ACA	p.A1035T	PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1035	Ser-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CCGGAAAGTGCGTCCTGATTG	0.647		NaN	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					0	0	0	0.004482	0	8	26				
TOP3A	7156	broad.mit.edu	37	17	18196135	18196135	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:18196135T>C	uc002gsx.1	-	11	1334	c.1105A>G	c.(1105-1107)ATT>GTT	p.I369V	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.I267V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	369					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CTGGGAAAAATGTTTGTTTCT	0.483		NaN											0	0	0	0.01441	0	48	86				
EFCAB5	374786	broad.mit.edu	37	17	28405458	28405458	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:28405458C>G	uc002het.2	+	15	3155	c.2963C>G	c.(2962-2964)GCT>GGT	p.A988G	EFCAB5_uc010cse.2_Missense_Mutation_p.A743G|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	988							calcium ion binding			ovary(1)|skin(1)	2						ATCCAATGTGCTGCAGAGACA	0.473		NaN											0	0	0	0.010504	0	22	54				
EVI2B	2124	broad.mit.edu	37	17	29631980	29631980	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:29631980C>G	uc002hgk.2	-	2	803	c.648G>C	c.(646-648)TTG>TTC	p.L216F	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.L231F	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	216	Helical; (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTATAGCTACCAACATAGAAG	0.343		NaN											0	0	0	0.01441	0	53	161				
PLEKHM1	9842	broad.mit.edu	37	17	43545795	43545795	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:43545795G>C	uc002ija.2	-	5	1258	c.1088C>G	c.(1087-1089)GCA>GGA	p.A363G	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A335G|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A312G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	363					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TCCAGAGGCTGCCTGGGCAGG	0.642		NaN											0	0	0	0.006214	0	8	43				
KPNB1	3837	broad.mit.edu	37	17	45750422	45750422	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:45750422A>G	uc002ilt.1	+	13	1922	c.1586A>G	c.(1585-1587)TAT>TGT	p.Y529C	KPNB1_uc010wkw.1_Missense_Mutation_p.Y384C|KPNB1_uc010wkx.1_Missense_Mutation_p.Y313C	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	529					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AGTTCTGCATATGAATCTCTG	0.423		NaN											0	0	0	0.00623	0	39	67				
HOXB4	3214	broad.mit.edu	37	17	46654171	46654171	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:46654171C>A	uc002inp.2	-	2	731	c.669G>T	c.(667-669)TTG>TTT	p.L223F	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGTGTTGGGCAACTTGTGGT	0.677		NaN											1	0	9.65139e-37	0.01441	1.05423e-36	66	121				
HEATR6	63897	broad.mit.edu	37	17	58145064	58145064	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:58145064T>C	uc002iyk.1	-	8	986	c.969A>G	c.(967-969)CCA>CCG	p.P323P	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Silent_p.P155P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	323	Poly-Lys.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGATTTTCTTTGGTTTTACTT	0.413		NaN											0	0	0	0.01441	0	43	99				
CDC42EP4	23580	broad.mit.edu	37	17	71281971	71281971	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:71281971G>A	uc002jjn.2	-	2	816	c.669C>T	c.(667-669)AGC>AGT	p.S223S	CDC42EP4_uc002jjo.2_Silent_p.S223S|CDC42EP4_uc002jjp.1_Silent_p.S153S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	223					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGTCCATGATGCTGAGGACGT	0.657		NaN											0	0	0	0.01441	0	70	103				
LAMA3	3909	broad.mit.edu	37	18	21437915	21437915	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437915G>A	uc002kuq.2	+	33	4330	c.4244G>A	c.(4243-4245)GGA>GAA	p.G1415E	LAMA3_uc002kur.2_Missense_Mutation_p.G1415E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1415	Laminin EGF-like 12.|Domain III B.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGAGCCAGGAGTGTGTGAC	0.562		NaN											0	0	0	0.01441	0	57	71				
ZNF317	57693	broad.mit.edu	37	19	9271246	9271247	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:9271246_9271247GA>TT	uc002mku.2	+	7	1200_1201	c.925_926GA>TT	c.(925-927)GAT>TTT	p.D309F	ZNF317_uc002mkv.2_Missense_Mutation_p.D168F|ZNF317_uc002mkw.2_Missense_Mutation_p.D277F|ZNF317_uc002mkx.2_Missense_Mutation_p.D224F|ZNF317_uc002mky.2_Missense_Mutation_p.D192F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTACAAGTGTGATCAGTGCGGG	0.574		NaN											0	0	0	0.004672	0	38	77				
TYK2	7297	broad.mit.edu	37	19	10475635	10475635	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:10475635G>A	uc002moc.3	-	8	1479	c.1101C>T	c.(1099-1101)GAC>GAT	p.D367D	TYK2_uc010dxe.2_Silent_p.D182D|TYK2_uc002mod.2_Silent_p.D367D	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	367	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCCGCGGCCTGTCTGCCGGCT	0.617		NaN											0	0	0	0.014323	0	21	50				
COMP	1311	broad.mit.edu	37	19	18896789	18896789	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:18896789T>A	uc002nke.2	-	13	1511	c.1475A>T	c.(1474-1476)CAG>CTG	p.Q492L	COMP_uc002nkd.2_Missense_Mutation_p.Q459L|COMP_uc010xqj.1_Missense_Mutation_p.Q439L	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	492	TSP type-3 7.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						CGCGTCCTCCTGGCCGGGGTT	0.711		NaN											0	0	0	0.008871	0	17	14				
ZNF253	56242	broad.mit.edu	37	19	20003518	20003518	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:20003518C>G	uc002noj.2	+	4	1554	c.1462C>G	c.(1462-1464)CTT>GTT	p.L488V	ZNF253_uc002nok.2_Missense_Mutation_p.L412V|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGACAGATCTTTTAAATGT	0.358		NaN											0	0	0	0.004672	0	3	121				
ZBTB32	27033	broad.mit.edu	37	19	36205902	36205902	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:36205902A>C	uc002oay.2	+	2	584	c.374A>C	c.(373-375)AAG>ACG	p.K125T	ZBTB32_uc002oaz.2_RNA	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	125					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGAAGAAACATCAG	0.577		NaN											0	0	0	0.007413	0	20	88				
HNRNPL	3191	broad.mit.edu	37	19	39329230	39329230	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39329230T>C	uc010xul.1	-	10	1375	c.1364A>G	c.(1363-1365)AAG>AGG	p.K455R	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.K111R|HNRNPL_uc002ojo.1_Missense_Mutation_p.K33R|HNRNPL_uc002ojk.2_Missense_Mutation_p.K111R|HNRNPL_uc002ojl.2_Missense_Mutation_p.K111R|HNRNPL_uc010xum.1_Missense_Mutation_p.K322R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	455	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTGGCTGCTTGGAGACACT	0.542		NaN											0	0	0	0.016723	0	11	66				
PLEKHG2	64857	broad.mit.edu	37	19	39909602	39909602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39909602C>T	uc010xuz.1	+	11	1547	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C	PLEKHG2_uc010xuy.1_Missense_Mutation_p.R349C|PLEKHG2_uc002olj.2_Missense_Mutation_p.R408C|PLEKHG2_uc010xva.1_Missense_Mutation_p.R215C	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	408	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCAGCGCCTCTTCTT	0.612		NaN											0	0	0	0.01441	0	86	180				
C19orf54	284325	broad.mit.edu	37	19	41248527	41248527	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:41248527G>A	uc002oou.1	-	6	987	c.867C>T	c.(865-867)TCC>TCT	p.S289S	C19orf54_uc002oow.1_Silent_p.S117S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	289											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCCCTGCTTGGACAGCAGGT	0.657		NaN											0	0	0	0.008291	0	10	34				
CEACAM6	4680	broad.mit.edu	37	19	42260767	42260767	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:42260767G>A	uc002orm.2	+	2	473	c.324G>A	c.(322-324)CTG>CTA	p.L108L		NM_002483	NP_002474	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion	108	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CATCCCTGCTGATCCAGAACG	0.458		NaN											0	0	0	0.01441	0	166	382				
ERCC2	2068	broad.mit.edu	37	19	45856352	45856352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:45856352C>G	uc002pbj.2	-	19	1867	c.1820G>C	c.(1819-1821)GGA>GCA	p.G607A	ERCC2_uc002pbh.2_Missense_Mutation_p.G170A|ERCC2_uc002pbi.2_Missense_Mutation_p.G300A|ERCC2_uc010ejz.2_Missense_Mutation_p.G529A|ERCC2_uc002pbk.2_Missense_Mutation_p.G583A	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	607	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAAGTCGATTCCCTCGGACAC	0.642		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.01441	0	43	109		Valid		
GIPR	2696	broad.mit.edu	37	19	46172841	46172841	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:46172841G>A	uc002pcu.1	+	2	162	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	GIPR_uc002pct.1_Silent_p.Q21Q|GIPR_uc010xxp.1_Silent_p.Q21Q|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	21					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGCTGCTCCAGAGGGCGGAGG	0.597		NaN											0	0	0	0.00308	0	6	12				
SLC6A16	28968	broad.mit.edu	37	19	49797169	49797169	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:49797169G>A	uc002pmz.2	-	9	1767	c.1533C>T	c.(1531-1533)AGC>AGT	p.S511S	SLC6A16_uc002pna.2_Silent_p.S511S	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	511	Helical; Name=8; (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTATTGCGCTGCTCAGCCCCA	0.483		NaN											0	0	0	0.01441	0	86	176				
VRK3	51231	broad.mit.edu	37	19	50492998	50492998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:50492998G>A	uc002prg.2	-	11	1092	c.994C>T	c.(994-996)CGC>TGC	p.R332C	VRK3_uc002prh.1_Missense_Mutation_p.R332C|VRK3_uc002pri.1_Missense_Mutation_p.R282C|VRK3_uc010ens.2_Missense_Mutation_p.R332C|VRK3_uc010ybl.1_Missense_Mutation_p.R282C|VRK3_uc010ybm.1_Missense_Mutation_p.R101C|VRK3_uc002prj.1_Missense_Mutation_p.R282C|VRK3_uc002prk.1_Missense_Mutation_p.R332C|VRK3_uc010ent.1_Missense_Mutation_p.R88C|VRK3_uc002prl.2_Missense_Mutation_p.R332C|VRK3_uc010ybn.1_3'UTR	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	332	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCAATAGCGGAAGGCGAAG	0.552		NaN											0	0	0	0.012319	0	20	28				
ZNF813	126017	broad.mit.edu	37	19	53994029	53994029	+	Silent	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:53994029T>G	uc002qbu.2	+	4	671	c.543T>G	c.(541-543)TCT>TCG	p.S181S	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGAATTTCTTGTAGGCCCA	0.388		NaN											0	0	0	0.011902	0	44	248				
PNPT1	87178	broad.mit.edu	37	2	55895071	55895071	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895071T>C	uc002rzf.2	-	12	1052	c.999A>G	c.(997-999)CCA>CCG	p.P333P	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	333					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTATTTCATATGGATCGGCTT	0.274		NaN											0	0	0	0.010818	0	22	61				
DYSF	8291	broad.mit.edu	37	2	71795448	71795448	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:71795448G>T	uc002sie.2	+	26	3166	c.2790G>T	c.(2788-2790)TGG>TGT	p.W930C	DYSF_uc010feg.2_Missense_Mutation_p.W961C|DYSF_uc010feh.2_Missense_Mutation_p.W916C|DYSF_uc002sig.3_Missense_Mutation_p.W916C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.W930C|DYSF_uc010fef.2_Missense_Mutation_p.W947C|DYSF_uc010fei.2_Missense_Mutation_p.W947C|DYSF_uc010fek.2_Missense_Mutation_p.W948C|DYSF_uc010fej.2_Missense_Mutation_p.W917C|DYSF_uc010fel.2_Missense_Mutation_p.W917C|DYSF_uc010feo.2_Missense_Mutation_p.W962C|DYSF_uc010fem.2_Missense_Mutation_p.W931C|DYSF_uc010fen.2_Missense_Mutation_p.W948C|DYSF_uc002sif.2_Missense_Mutation_p.W931C	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	930	Cytoplasmic (Potential).		W -> C (in LGMD2B; uncetain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTGGAGATTGGTTCGTGTGTC	0.647		NaN											1	0	2.56588e-125	0.01441	2.86143e-125	222	460				
SLC5A7	60482	broad.mit.edu	37	2	108604766	108604766	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:108604766T>C	uc002tdv.2	+	2	431	c.155T>C	c.(154-156)TTG>TCG	p.L52S	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.L52S|SLC5A7_uc010ywn.1_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	52	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	ATTGGTTTATTGGTTGGTGGA	0.542		NaN											0	0	0	0.012213	0	30	76				
THSD7B	80731	broad.mit.edu	37	2	137814383	137814383	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:137814383G>A	uc002tva.1	+	2	440	c.440G>A	c.(439-441)CGG>CAG	p.R147Q	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.R37Q	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGTCCCCGGGATTGTGTA	0.498		NaN											0	0	0	0.01441	0	48	324				
PKP4	8502	broad.mit.edu	37	2	159519804	159519804	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:159519804C>T	uc002tzv.2	+	15	2684	c.2424C>T	c.(2422-2424)ATC>ATT	p.I808I	PKP4_uc002tzu.2_Silent_p.I808I|PKP4_uc002tzw.2_Silent_p.I808I|PKP4_uc002tzx.2_Silent_p.I465I|PKP4_uc002uaa.2_Silent_p.I660I|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	808					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TTGGTCCTATCCCAGGACTGT	0.483		NaN								HNSCC(62;0.18)			0	0	0	0.012319	0	21	54				
XIRP2	129446	broad.mit.edu	37	2	168104737	168104737	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:168104737G>A	uc002udx.2	+	8	6853	c.6835G>A	c.(6835-6837)GAG>AAG	p.E2279K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2104K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2057K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2104					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTTTAACCCTGAGAATAATGT	0.413		NaN											0	0	0	0.017118	0	36	88				
TTN	7273	broad.mit.edu	37	2	179616127	179616127	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:179616127T>G	uc002unb.2	-	46	11224	c.11000A>C	c.(10999-11001)AAA>ACA	p.K3667T	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATCTGTTTTCTTGGCAGA	0.363		NaN											0	0	0	0.01441	0	50	106				
ADAM23	8745	broad.mit.edu	37	2	207436497	207436497	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:207436497C>A	uc002vbq.2	+	17	1836	c.1613C>A	c.(1612-1614)GCT>GAT	p.A538D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	538	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCAACGGGGCTCACTGCAGC	0.443		NaN											1	0	1.99824e-07	0.00499	2.09667e-07	14	124				
ZNF133	7692	broad.mit.edu	37	20	18295856	18295856	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:18295856G>T	uc010gcq.2	+	5	666	c.361G>T	c.(361-363)GAT>TAT	p.D121Y	ZNF133_uc010zrv.1_Missense_Mutation_p.D124Y|ZNF133_uc010zrw.1_Missense_Mutation_p.D58Y|ZNF133_uc010gcr.2_Missense_Mutation_p.D121Y|ZNF133_uc010zrx.1_Missense_Mutation_p.D26Y|ZNF133_uc002wql.3_Missense_Mutation_p.D120Y|ZNF133_uc010gcs.2_Missense_Mutation_p.D120Y|ZNF133_uc010zry.1_Missense_Mutation_p.D26Y|ZNF133_uc002wqm.2_Missense_Mutation_p.D121Y	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	121						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CCAGCCTGGGGATCCGGGCCC	0.562		NaN											1	0	3.47267e-51	0.01441	3.83254e-51	79	185				
POFUT1	23509	broad.mit.edu	37	20	30803206	30803206	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:30803206T>C	uc002wxp.2	+	3	430	c.381T>C	c.(379-381)TTT>TTC	p.F127F	POFUT1_uc002wxo.2_Silent_p.F127F|POFUT1_uc010ztt.1_Silent_p.F19F|POFUT1_uc010ztu.1_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	127					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATACTGCTTTGAGGTGGCAG	0.602		NaN											0	0	0	0.01441	0	85	180				
CDK5RAP1	51654	broad.mit.edu	37	20	31962020	31962020	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:31962020T>G	uc010gek.2	-	10	1274	c.1150_splice	c.e10-1	p.V384_splice	CDK5RAP1_uc002wyy.2_Splice_Site_p.V280_splice|CDK5RAP1_uc002wyz.2_Splice_Site_p.V370_splice|CDK5RAP1_uc002wza.2_Splice_Site_p.V370_splice|CDK5RAP1_uc010gel.2_Splice_Site_p.V279_splice|CDK5RAP1_uc010gem.2_Splice_Site_p.V293_splice|CDK5RAP1_uc002wzc.1_Splice_Site_p.V370_splice|CDK5RAP1_uc002wzb.1_5'Flank	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						CTGCAGAACCTGATGAAACAG	0.463		NaN											0	0	0	0.021523	0	27	155				
TRPC4AP	26133	broad.mit.edu	37	20	33680620	33680620	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:33680620C>T	uc002xbk.2	-	1	1	c.-33_splice	c.e1-1		TRPC4AP_uc002xbl.2_Splice_Site|TRPC4AP_uc010zur.1_Splice_Site|TRPC4AP_uc002xbm.1_Splice_Site	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a						protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAAGCGGCCTCGGGGCCGCGG	0.746		NaN											0	0	0	0.014758	0	3	10				
CPNE1	8904	broad.mit.edu	37	20	34214192	34214192	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:34214192T>C	uc002xdf.2	-	18	1948	c.1585A>G	c.(1585-1587)AAG>GAG	p.K529E	CPNE1_uc002xdc.2_Missense_Mutation_p.K191E|CPNE1_uc010zvj.1_Missense_Mutation_p.K534E|CPNE1_uc002xde.2_Missense_Mutation_p.K505E|CPNE1_uc002xdg.2_Missense_Mutation_p.K473E|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K529E|CPNE1_uc002xdi.2_Missense_Mutation_p.K529E|CPNE1_uc002xdj.2_Missense_Mutation_p.K529E|CPNE1_uc002xdk.2_Missense_Mutation_p.K529E|CPNE1_uc002xdl.2_Missense_Mutation_p.K529E|CPNE1_uc002xdm.2_Missense_Mutation_p.K529E	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	529					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCAGGATCCTTGGCTGAGGGT	0.627		NaN											0	0	0	0.01441	0	88	207				
ICOSLG	23308	broad.mit.edu	37	21	45651249	45651249	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr21:45651249A>C	uc002zee.2	-	5	910	c.776T>G	c.(775-777)ATC>AGC	p.I259S	ICOSLG_uc011afc.1_Missense_Mutation_p.I169S|ICOSLG_uc002zef.2_Missense_Mutation_p.I142S|ICOSLG_uc010gpp.1_Missense_Mutation_p.I259S	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	259	Helical; (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACAGCCAGGATGCTCCACGT	0.562		NaN											0	0	0	0.009535	0	25	45				
EP300	2033	broad.mit.edu	37	22	41489057	41489057	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41489057A>G	uc003azl.3	+	1	444	c.49A>G	c.(49-51)AAA>GAA	p.K17E		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.|Nuclear localization signal (Potential).				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAAGCGGCCTAAACTCTCATC	0.552		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.01441	0	75	132		Valid		
ACO2	50	broad.mit.edu	37	22	41865168	41865168	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41865168A>G	uc003bac.2	+	1	40	c.18A>G	c.(16-18)CTA>CTG	p.L6L	PHF5A_uc003bab.2_5'Flank|ACO2_uc003bad.2_Silent_p.L6L	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	6					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CCTACAGCCTACTGGTGACTC	0.647		NaN											0	0	0	0.01892	0	22	108				
GTSE1	51512	broad.mit.edu	37	22	46704392	46704392	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:46704392C>T	uc011aqy.1	+	4	526	c.314C>T	c.(313-315)GCT>GTT	p.A105V	GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TACAAAGAAGCTCACTTACTG	0.567		NaN											0	0	0	0.005443	0	28	133				
CPT1B	1375	broad.mit.edu	37	22	51007850	51007850	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:51007850T>A	uc003bmk.3	-	18	2398	c.2236A>T	c.(2236-2238)AAC>TAC	p.N746Y	CPT1B_uc003bml.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmm.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmo.2_Missense_Mutation_p.N746Y|CPT1B_uc011asa.1_Missense_Mutation_p.N712Y|CPT1B_uc003bmn.2_Missense_Mutation_p.N746Y|CPT1B_uc011asb.1_Missense_Mutation_p.N665Y|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.N541Y|uc003bmr.1_5'Flank	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	746	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGCTGGGCGTTCTGTGGGAGC	0.537		NaN											0	0	0	0.008871	0	21	98				
SUMF1	285362	broad.mit.edu	37	3	4508955	4508955	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:4508955G>C	uc003bpz.1	-	1	1	c.-24_splice	c.e1-1		SUMF1_uc003bps.1_Splice_Site|SUMF1_uc011ass.1_Splice_Site|SUMF1_uc010hby.1_Splice_Site|SUMF1_uc011ast.1_Splice_Site	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1							endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATGTGACCCGGTTGGTCACGT	0.577		NaN											0	0	0	0.014758	0	5	16				
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:40192632C>T	uc003cka.2	+	4	561	c.426C>T	c.(424-426)TAC>TAT	p.Y142Y	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.Y142Y|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Silent_p.Y142Y|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAACCTGTACAGGAAGCACC	0.552		NaN											0	0	0	0.010729	0	8	24				
VIPR1	7433	broad.mit.edu	37	3	42577695	42577695	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:42577695G>T	uc003clf.2	+	13	1420	c.1296G>T	c.(1294-1296)ACG>ACT	p.T432T	VIPR1_uc011azl.1_Silent_p.T384T|VIPR1_uc011azm.1_Silent_p.T222T|VIPR1_uc011azn.1_Silent_p.T405T|VIPR1_uc003clg.2_Silent_p.T77T	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	432	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CGTGCAGCACGCAGGTTTCCA	0.692		NaN											1	0	0.00909568	0.009096	0.00931433	4	15				
BAP1	8314	broad.mit.edu	37	3	52440379	52440379	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:52440379C>G	uc003ddx.2	-	9	788	c.673G>C	c.(673-675)GAC>CAC	p.D225H	BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	225					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAGCGGATGTCGTGGTAGGGC	0.632		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.00632	0	25	21				
TPRA1	131601	broad.mit.edu	37	3	127294260	127294260	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:127294260G>A	uc003ejl.2	-	8	1050	c.759C>T	c.(757-759)ATC>ATT	p.I253I	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.I253I|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.I253I	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	253	Helical; Name=6; (Potential).				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						GCCCCTCGATGATGTCGAAGC	0.682		NaN									OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	6	22				
COL6A6	131873	broad.mit.edu	37	3	130292969	130292969	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:130292969C>A	uc010htl.2	+	7	3178	c.3147C>A	c.(3145-3147)CAC>CAA	p.H1049Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1049	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATACCTATCACCCGGAGTTTC	0.433		NaN											1	0	1.10513e-12	0.014323	1.17697e-12	24	56				
DNAJC13	23317	broad.mit.edu	37	3	132247081	132247081	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:132247081A>G	uc003eor.2	+	54	6495	c.6430A>G	c.(6430-6432)ATT>GTT	p.I2144V		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2144							heat shock protein binding			ovary(1)|breast(1)	2						ACTCGAAGGCATTGGCCTTGA	0.418		NaN											0	0	0	0.009535	0	33	78				
SKIL	6498	broad.mit.edu	37	3	170079087	170079087	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:170079087C>T	uc003fgu.2	+	2	1680	c.968C>T	c.(967-969)GCT>GTT	p.A323V	SKIL_uc011bps.1_Missense_Mutation_p.A303V|SKIL_uc003fgv.2_Missense_Mutation_p.A323V|SKIL_uc003fgw.2_Missense_Mutation_p.A323V	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	323					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGAATCAGCTAAATGGCAT	0.398		NaN											0	0	0	0.005524	0	34	196				
LETM1	3954	broad.mit.edu	37	4	1824768	1824768	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:1824768C>T	uc003gdv.2	-	9	1720	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	475	Mitochondrial matrix (Potential).|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCTGGATGGCCGCCTCCTCC	0.652		NaN											0	0	0	0.016723	0	14	106				
PGM2	55276	broad.mit.edu	37	4	37850207	37850207	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:37850207G>A	uc011byb.1	+	11	1420	c.1347G>A	c.(1345-1347)GAG>GAA	p.E449E	PGM2_uc011byc.1_Silent_p.E289E	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	449					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						TAAGTGCAGAGTTGGCTAGCT	0.408		NaN											0	0	0	0.01441	0	58	85				
UGT2A3	79799	broad.mit.edu	37	4	69817427	69817427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69817427C>T	uc003hef.2	-	1	83	c.52G>A	c.(52-54)GTT>ATT	p.V18I	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	18						integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						CCACAGCCAACACAGAAGAGC	0.478		NaN											0	0	0	0.013726	0	18	65				
UGT2B7	7364	broad.mit.edu	37	4	69962362	69962362	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69962362A>G	uc003heg.3	+	1	170	c.124A>G	c.(124-126)ATC>GTC	p.I42V	UGT2B7_uc010ihq.2_Missense_Mutation_p.I42V	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	42					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TATAAAGACAATCCTGGATGA	0.418		NaN											0	0	0	0.01441	0	64	141				
HNRPDL	9987	broad.mit.edu	37	4	83347685	83347685	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:83347685C>T	uc003hmr.2	-	6	1658	c.1123G>A	c.(1123-1125)GGC>AGC	p.G375S	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	375	Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TCATATCCGCCATAGCCACTA	0.353		NaN											0	0	0	0.009535	0	26	75				
MYOZ2	51778	broad.mit.edu	37	4	120107259	120107259	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107259T>C	uc003icp.3	+	6	912	c.699T>C	c.(697-699)AAT>AAC	p.N233N		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	233							protein phosphatase 2B binding				0						GGTCCTTTAATAGGACTCCTA	0.393		NaN											0	0	0	0.014323	0	22	72				
MYOZ2	51778	broad.mit.edu	37	4	120107338	120107338	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107338G>C	uc003icp.3	+	6	991	c.778G>C	c.(778-780)GAA>CAA	p.E260Q		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	260							protein phosphatase 2B binding				0						CACTGTACCAGAATCAGAAGA	0.383		NaN											0	0	0	0.020292	0	14	48				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:153247289G>C	uc003ims.2	-	10	1662	c.1513C>G	c.(1513-1515)CGC>GGC	p.R505G	FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.010504	0	21	107		Valid		
WWC2	80014	broad.mit.edu	37	4	184114848	184114848	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:184114848C>G	uc010irx.2	+	2	410	c.228C>G	c.(226-228)ATC>ATG	p.I76M	WWC2_uc003ivk.3_Translation_Start_Site	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	76	WW 2.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTACTACATCGATCACATCA	0.423		NaN											0	0	0	0.00499	0	16	38				
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:837498C>T	uc011cma.1	-	6	1266	c.882G>A	c.(880-882)ATG>ATA	p.M294I	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	294						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483		NaN											0	0	0	0.01441	0	53	307				
C5orf42	65250	broad.mit.edu	37	5	37183002	37183002	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37183002C>T	uc011cpa.1	-	26	5512	c.5281G>A	c.(5281-5283)GAT>AAT	p.D1761N	C5orf42_uc011coy.1_Missense_Mutation_p.D262N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D836N|C5orf42_uc011cpb.1_Missense_Mutation_p.D642N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1761										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATACCAGAATCACAGAGTAGC	0.413		NaN											0	0	0	0.013114	0	44	74				
NUP155	9631	broad.mit.edu	37	5	37293028	37293028	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37293028T>C	uc003jku.1	-	34	4108	c.3990A>G	c.(3988-3990)TTA>TTG	p.L1330L	NUP155_uc003jkt.1_Silent_p.L1271L|NUP155_uc010iuz.1_Silent_p.L1266L	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1330					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTATCAATAATACATGTA	0.313		NaN											0	0	0	0.01441	0	69	137				
SKIV2L2	23517	broad.mit.edu	37	5	54649078	54649078	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:54649078A>T	uc003jpy.3	+	14	1780	c.1514A>T	c.(1513-1515)GAT>GTT	p.D505V	SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404V	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CGCAAATTTGATGGGAAGGAT	0.333		NaN											0	0	0	0.014323	0	21	134				
FAM169A	26049	broad.mit.edu	37	5	74077398	74077398	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:74077398C>A	uc003kdm.2	-	13	1943	c.1900G>T	c.(1900-1902)GAT>TAT	p.D634Y	FAM169A_uc010izm.2_Missense_Mutation_p.D574Y|FAM169A_uc003kdl.2_Missense_Mutation_p.D452Y	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	634											0						GAGCTGCTATCCACAGCTTTT	0.458		NaN											1	0	1.27862e-28	0.01441	1.38952e-28	59	204				
TMCO6	55374	broad.mit.edu	37	5	140024591	140024591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140024591C>T	uc003lgl.2	+	12	1491	c.1390C>T	c.(1390-1392)CAG>TAG	p.Q464*	TMCO6_uc003lgm.2_Nonsense_Mutation_p.Q470*|TMCO6_uc010jft.2_Nonsense_Mutation_p.Q224*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.Q355*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.Q224*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	464					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCAGCAGTCAGGGCT	0.542		NaN											0	0	0	0.01441	0	97	144				
PCDHAC1	56135	broad.mit.edu	37	5	140308488	140308488	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140308488T>C	uc003lih.2	+	1	2187	c.2011T>C	c.(2011-2013)TGG>CGG	p.W671R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.W671R	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	671	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATGTCTGGGAACCAGG	0.483		NaN											0	0	0	0.01441	0	58	241				
CSF1R	1436	broad.mit.edu	37	5	149460456	149460456	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:149460456A>G	uc003lrl.2	-	2	376	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Y61H|CSF1R_uc011dce.1_Missense_Mutation_p.Y61H|CSF1R_uc011dcf.1_Missense_Mutation_p.Y61H	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	61	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.Y61Y(2)		haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCAGAGTACAGGGTCCAG	0.612		NaN											0	0	0	0.004007	0	15	51				
SLC36A1	206358	broad.mit.edu	37	5	150844717	150844717	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:150844717G>A	uc003luc.2	+	5	623	c.406G>A	c.(406-408)GCA>ACA	p.A136T	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A136T|SLC36A1_uc010jhw.1_Missense_Mutation_p.A136T	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	136	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCGGAACCACGCACACTGGGG	0.493		NaN											0	0	0	0.019004	0	31	84				
NSD1	64324	broad.mit.edu	37	5	176562709	176562709	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:176562709G>A	uc003mfr.3	+	2	743	c.605G>A	c.(604-606)GGT>GAT	p.G202D	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G202D|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G202D|NSD1_uc003mfq.2_Missense_Mutation_p.G202D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	202					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGAATGGTGTAAAAGTG	0.468		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.01441	0	58	100		Valid		
MGAT1	4245	broad.mit.edu	37	5	180219243	180219243	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180219243G>T	uc003mmg.3	-	2	1224	c.729C>A	c.(727-729)GAC>GAA	p.D243E	MGAT1_uc010jlf.2_Missense_Mutation_p.D243E|MGAT1_uc010jlg.2_Missense_Mutation_p.D243E|MGAT1_uc003mmh.3_Missense_Mutation_p.D243E|MGAT1_uc010jlh.2_Missense_Mutation_p.D243E|MGAT1_uc003mmi.3_Missense_Mutation_p.D243E	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	243	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGCCGTTGTCATTCCAGG	0.642		NaN											1	0	8.12818e-05	0.001984	8.40438e-05	7	140				
OR2V2	285659	broad.mit.edu	37	5	180581946	180581946	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180581946G>C	uc011dhj.1	+	1	4	c.4G>C	c.(4-6)GAG>CAG	p.E2Q		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGCCATGGAGACGTGGGT	0.493		NaN											0	0	0	0.01441	0	72	109				
CAP2	10486	broad.mit.edu	37	6	17539634	17539634	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:17539634T>C	uc003ncb.2	+	8	1014	c.771T>C	c.(769-771)TCT>TCC	p.S257S	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.S231S|CAP2_uc011djb.1_Silent_p.S193S|CAP2_uc011djc.1_Silent_p.S145S|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	257					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGGAATCTTCTCCTTCACGCT	0.522		NaN											0	0	0	0.001168	0	6	117				
GPX6	257202	broad.mit.edu	37	6	28474199	28474199	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:28474199A>C	uc011dlj.1	-	4	299	c.249T>G	c.(247-249)AAT>AAG	p.N83K	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	83					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	CCTGTAGTGCATTCAGTTCTG	0.443		NaN											0	0	0	0.012319	0	20	119				
BTNL2	56244	broad.mit.edu	37	6	32372796	32372796	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:32372796G>A	uc003obg.1	-	2	347	c.347C>T	c.(346-348)CCC>CTC	p.P116L	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	116	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						ATTGTCGGAGGGCTGGATGTT	0.488		NaN											0	0	0	0.021022	0	36	179				
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:33284382G>A	uc003oeb.2	-	2	464	c.312C>T	c.(310-312)GCC>GCT	p.A104A	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.A104A	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	104	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGTCTCAAAGGCGCCTGGGT	0.577		NaN											0	0	0	0.01441	0	52	210				
SLC17A5	26503	broad.mit.edu	37	6	74331540	74331540	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:74331540A>G	uc003phn.3	-	7	1093	c.965T>C	c.(964-966)TTC>TCC	p.F322S	SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.F191S	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	322					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						TTGAACATTGAACCTTAGGAT	0.313		NaN											0	0	0	0.013537	0	12	36				
SIM1	6492	broad.mit.edu	37	6	100868687	100868688	+	Nonsense_Mutation	DNP	GG	GG	TC			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:100868687_100868688GG>TC	uc003pqj.3	-	9	1352_1353	c.1145_1146CC>GA	c.(1144-1146)TCC>TGA	p.S382*	SIM1_uc010kcu.2_Nonsense_Mutation_p.S382*	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	382	Single-minded C-terminal.|Nuclear localization signal (By similarity).				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGAAGTCCTGGATTTTGACTT	0.47		NaN											0	0	0	0.004672	0	47	84				
RAET1G	353091	broad.mit.edu	37	6	150240778	150240778	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:150240778C>A	uc010kii.1	-	2	328	c.260G>T	c.(259-261)TGG>TTG	p.W87L	RAET1G_uc003qnm.2_RNA	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G precursor	87	MHC class I alpha-1 like.|Extracellular (Potential).				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGTGCTTTCCAGGCCGTTGT	0.488		NaN											1	0	3.36649e-63	0.01441	3.7347e-63	125	181				
ARID1B	57492	broad.mit.edu	37	6	157521944	157521944	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:157521944C>G	uc003qqn.2	+	18	4314	c.4162C>G	c.(4162-4164)CAG>GAG	p.Q1388E	ARID1B_uc003qqo.2_Missense_Mutation_p.Q1348E|ARID1B_uc003qqp.2_Missense_Mutation_p.Q1335E	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1393					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGTACAACCAGTATGGAGG	0.632		NaN											0	0	0	0.010504	0	20	108		Valid		
FAM126A	84668	broad.mit.edu	37	7	22985595	22985595	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:22985595T>C	uc003svm.3	-	11	1434	c.1179A>G	c.(1177-1179)GAA>GAG	p.E393E	FAM126A_uc003svn.3_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	393						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						TAGTTTCTTTTTCTTTTCCTC	0.418		NaN											0	0	0	0.01441	0	113	195				
GLI3	2737	broad.mit.edu	37	7	42004980	42004980	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:42004980G>T	uc011kbh.1	-	15	3782	c.3691C>A	c.(3691-3693)CTC>ATC	p.L1231I	GLI3_uc011kbg.1_Missense_Mutation_p.L1172I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1231					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGTTGTGGAGCATCAAGTGC	0.632		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				1	0	1.41504e-22	0.011902	1.52996e-22	41	94				
OGDH	4967	broad.mit.edu	37	7	44736651	44736651	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:44736651G>A	uc003tln.2	+	15	2148	c.2039G>A	c.(2038-2040)CGG>CAG	p.R680Q	OGDH_uc011kbx.1_Missense_Mutation_p.R676Q|OGDH_uc011kby.1_Missense_Mutation_p.R530Q|OGDH_uc003tlp.2_Missense_Mutation_p.R691Q|OGDH_uc011kbz.1_Missense_Mutation_p.R475Q|OGDH_uc003tlo.1_Missense_Mutation_p.R513Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	680					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GACGTGGAGCGGGGCACATTC	0.557		NaN											0	0	0	0.007413	0	17	108				
ABCA13	154664	broad.mit.edu	37	7	48284188	48284188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:48284188G>A	uc003toq.2	+	11	1303	c.1278G>A	c.(1276-1278)TGG>TGA	p.W426*	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	426					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCATCTGTGGAAATTGCAAA	0.393		NaN											0	0	0	0.001168	0	6	47				
LUC7L2	51631	broad.mit.edu	37	7	139092032	139092032	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:139092032A>T	uc003vux.2	+	6	997	c.623A>T	c.(622-624)GAT>GTT	p.D208V	LUC7L2_uc011kqs.1_Missense_Mutation_p.D205V|LUC7L2_uc011kqt.1_Missense_Mutation_p.D274V|LUC7L2_uc003vuy.2_Missense_Mutation_p.D207V|LUC7L2_uc003vuz.1_Missense_Mutation_p.D155V|LUC7L2_uc003vva.2_Missense_Mutation_p.D155V	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	208	C2H2-type; atypical.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CGACTGGCTGATCATTTTGGG	0.398		NaN											0	0	0	0.00632	0	24	108				
ABP1	26	broad.mit.edu	37	7	150554592	150554592	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:150554592G>A	uc003why.1	+	3	5252	c.1034G>A	c.(1033-1035)CGC>CAC	p.R345H	ABP1_uc003whz.1_Missense_Mutation_p.R345H|ABP1_uc003wia.1_Missense_Mutation_p.R345H	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	345					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGCGGAGAGCGCATTGCCTAT	0.642		NaN											0	0	0	0.014758	0	5	96				
MYST3	7994	broad.mit.edu	37	8	41794882	41794882	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:41794882T>C	uc010lxb.2	-	17	3788	c.3244A>G	c.(3244-3246)AGA>GGA	p.R1082G	MYST3_uc010lxc.2_Missense_Mutation_p.R1082G|MYST3_uc003xon.3_Missense_Mutation_p.R1082G	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1082					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AAGTATTCTCTAGGGAAAAGT	0.428		NaN											0	0	0	0.00874	0	43	59				
ATP6V1H	51606	broad.mit.edu	37	8	54745612	54745612	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:54745612T>A	uc003xrl.2	-	3	300	c.148A>T	c.(148-150)ATT>TTT	p.I50F	ATP6V1H_uc003xrk.2_Missense_Mutation_p.I10F|ATP6V1H_uc003xrm.2_Missense_Mutation_p.I50F|ATP6V1H_uc003xrn.2_Missense_Mutation_p.I50F|ATP6V1H_uc011ldv.1_Intron|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Missense_Mutation_p.I47F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	50					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AACCTCTGAATAAACTCACAA	0.368		NaN											0	0	0	0.01441	0	79	77				
MOS	4342	broad.mit.edu	37	8	57026488	57026488	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57026488C>T	uc011leb.1	-	1	54	c.54G>A	c.(52-54)TCG>TCA	p.S18S		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	18							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCGTCCACCGATGGGGAAA	0.697		NaN											0	0	0	0.003163	0	12	35				
TRPS1	7227	broad.mit.edu	37	8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:116632282C>T	uc003ynz.2	-	2	463	c.4G>A	c.(4-6)GTC>ATC	p.V2I	TRPS1_uc011lhy.1_Missense_Mutation_p.V6I|TRPS1_uc003yny.2_Missense_Mutation_p.V15I|TRPS1_uc010mcy.2_Missense_Mutation_p.V2I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	2					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408		NaN							Langer-Giedion_syndrome				0	0	0	0.020292	0	14	87				
COL22A1	169044	broad.mit.edu	37	8	139620181	139620181	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:139620181G>A	uc003yvd.2	-	57	4477	c.4030C>T	c.(4030-4032)CCT>TCT	p.P1344S	COL22A1_uc011ljo.1_Missense_Mutation_p.P624S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1344	Pro-rich.|Gly-rich.|Collagen-like 13.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACTCACAGGGGTTCCTGAA	0.512		NaN								HNSCC(7;0.00092)			0	0	0	0.00632	0	27	68				
KCNV2	169522	broad.mit.edu	37	9	2718088	2718088	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:2718088G>A	uc003zho.1	+	1	563	c.349G>A	c.(349-351)GGC>AGC	p.G117S		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	117	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		CGAGCTGGCCGGCTTCCCCAA	0.667		NaN											0	0	0	0.009096	0	4	19				
DENND4C	55667	broad.mit.edu	37	9	19296129	19296129	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:19296129A>G	uc003znq.2	+	2	250	c.217A>G	c.(217-219)ACA>GCA	p.T73A	DENND4C_uc011lnc.1_Translation_Start_Site	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	73	DENN.					integral to membrane				ovary(1)|skin(1)	2						ATCCATCAATACAAACAAATG	0.393		NaN											0	0	0	0.01441	0	87	169				
GNA14	9630	broad.mit.edu	37	9	80262686	80262686	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:80262686G>A	uc004aku.2	-	1	547	c.24C>T	c.(22-24)TCC>TCT	p.S8S		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	8					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCTCCTCCGCGGACAGGCAGC	0.711		NaN											0	0	0	0.008291	0	9	14				
AGTPBP1	23287	broad.mit.edu	37	9	88257814	88257814	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:88257814T>C	uc011ltd.1	-	12	1263	c.1230A>G	c.(1228-1230)CAA>CAG	p.Q410Q	AGTPBP1_uc004aod.3_Silent_p.Q36Q|AGTPBP1_uc011ltc.1_Silent_p.Q308Q|AGTPBP1_uc010mqc.2_Silent_p.Q370Q|AGTPBP1_uc011lte.1_Silent_p.Q422Q	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	410					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GTCCCGGTTCTTGCTGGGGTT	0.294		NaN											0	0	0	0.006122	0	19	78				
KIF12	113220	broad.mit.edu	37	9	116856478	116856478	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:116856478T>C	uc004bif.2	-	10	1120	c.882A>G	c.(880-882)CTA>CTG	p.L294L	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	427	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TCTCATTCTCTAGCATGAACT	0.627		NaN											0	0	0	0.010504	0	19	90				
PNPLA7	375775	broad.mit.edu	37	9	140444633	140444633	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:140444633T>C	uc004cnf.2	-	1	354	c.17A>G	c.(16-18)GAT>GGT	p.D6G	PNPLA7_uc010ncj.1_Missense_Mutation_p.D6G|MRPL41_uc004cnh.3_5'Flank	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	6					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGCTGTCATCTTTCTCTTC	0.547		NaN											0	0	0	0.013726	0	30	169				
BMX	660	broad.mit.edu	37	X	15574250	15574250	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15574250C>T	uc004cww.2	+	19	2196	c.2008C>T	c.(2008-2010)CGG>TGG	p.R670W	BMX_uc004cwx.3_Missense_Mutation_p.R670W|BMX_uc004cwy.3_Missense_Mutation_p.R670W	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase.		R -> W (in a lung large cell carcinoma sample; somatic mutation).		cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R670W(2)		lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383		NaN											0	0	0	0.01441	0	56	127				
ACE2	59272	broad.mit.edu	37	X	15599440	15599440	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15599440T>G	uc004cxa.1	-	8	1142	c.974A>C	c.(973-975)CAA>CCA	p.Q325P	ACE2_uc004cxb.2_Missense_Mutation_p.Q325P	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	325	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCAGAATCCTTGAGTCATATT	0.478		NaN											0	0	0	0.01441	0	115	81				
NKRF	55922	broad.mit.edu	37	X	118723319	118723319	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:118723319T>C	uc004erq.2	-	2	2722	c.2069A>G	c.(2068-2070)AAT>AGT	p.N690S	NKRF_uc004err.2_Missense_Mutation_p.N690S	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	690					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						AAGATCTCAATTTGCTTGAGG	0.383		NaN											0	0	0	0.01441	0	48	25				
PLEKHN1	84069	broad.mit.edu	37	1	909268	909268	+	Missense_Mutation	SNP	C	C	T	rs140958781	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:909268C>T	uc001ace.2	+	13	1681	c.1646C>T	c.(1645-1647)TCG>TTG	p.S549L	PLEKHN1_uc001acd.2_Missense_Mutation_p.S497L|PLEKHN1_uc001acf.2_Missense_Mutation_p.S462L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	549											0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCACTCCCCTCGGTGCCTGTG	0.697		NaN											0	0	0	0.104719	0	28	75				
TP73	7161	broad.mit.edu	37	1	3644231	3644231	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:3644231C>T	uc001akp.2	+	8	992	c.882C>T	c.(880-882)ATC>ATT	p.I294I	TP73_uc001akq.2_Silent_p.I294I|TP73_uc010nzj.1_Silent_p.I245I|TP73_uc001akr.2_Silent_p.I245I|TP73_uc009vlk.1_Silent_p.I245I|TP73_uc001aks.2_Silent_p.I245I|TP73_uc010nzk.1_Silent_p.I223I|TP73_uc010nzl.1_5'UTR	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	294	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGGGCCGCATCTGCGCCTGTC	0.672		NaN											0	0	0	0.02938	0	7	14				
TNFRSF8	943	broad.mit.edu	37	1	12202457	12202457	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:12202457G>C	uc001atq.2	+	15	1879	c.1657G>C	c.(1657-1659)GAG>CAG	p.E553Q	TNFRSF8_uc010obc.1_Missense_Mutation_p.E441Q|TNFRSF8_uc001atr.2_Missense_Mutation_p.E90Q|TNFRSF8_uc001ats.2_Missense_Mutation_p.E34Q	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	553	Cytoplasmic (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAGCTGGAGGCGGACCA	0.652		NaN											0	0	0	0.105934	0	13	31				
SPEN	23013	broad.mit.edu	37	1	16199610	16199610	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:16199610G>A	uc001axk.1	+	2	587	c.383G>A	c.(382-384)CGT>CAT	p.R128H	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	128	Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAGAAGGACGTTATGAGCGG	0.488		NaN											0	0	0	0.076483	0	19	38				
C1orf201	90529	broad.mit.edu	37	1	24706145	24706145	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:24706145T>A	uc001bjc.2	-	5	595	c.460A>T	c.(460-462)AAT>TAT	p.N154Y	C1orf201_uc001bja.2_Missense_Mutation_p.N107Y|C1orf201_uc001bjb.2_Missense_Mutation_p.N62Y|C1orf201_uc001bjd.2_Missense_Mutation_p.N154Y|C1orf201_uc001bje.1_Missense_Mutation_p.N107Y|C1orf201_uc001bjf.2_Missense_Mutation_p.N22Y			Q5TH74	CA201_HUMAN	RecName: Full=UPF0490 protein C1orf201;	154										ovary(1)|breast(1)	2		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GTTCTTACATTGTAATAGTTT	0.373		NaN											0	0	0	0.09319	0	11	53				
ARID1A	8289	broad.mit.edu	37	1	27059204	27059204	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:27059204C>T	uc001bmv.1	+	4	2214	c.1841C>T	c.(1840-1842)TCA>TTA	p.S614L	ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	614					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCATCCTCAGCCCCCTCA	0.478		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.062417	0	17	30		Valid		
PUM1	9698	broad.mit.edu	37	1	31478699	31478699	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:31478699C>T	uc001bsi.1	-	5	833	c.720_splice	c.e5+1	p.F240_splice	PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Splice_Site_p.F240_splice|PUM1_uc001bsj.1_Splice_Site_p.F240_splice|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Splice_Site_p.F276_splice|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCAACTTACAAATCCTCCT	0.398		NaN											0	0	0	0.09836	0	33	24				
RNF220	55182	broad.mit.edu	37	1	44878109	44878109	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:44878109C>G	uc001clv.1	+	2	700	c.340C>G	c.(340-342)CAT>GAT	p.H114D	RNF220_uc001clw.1_Missense_Mutation_p.H114D	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	114					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TATGCTGAATCATAGTGGTGT	0.537		NaN											0	0	0	0.139131	0	108	78				
STIL	6491	broad.mit.edu	37	1	47767334	47767334	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:47767334G>A	uc001crc.1	-	5	507	c.352C>T	c.(352-354)CTT>TTT	p.L118F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L118F|STIL_uc010omo.1_Missense_Mutation_p.L118F|STIL_uc001crd.1_Missense_Mutation_p.L118F|STIL_uc001cre.1_Missense_Mutation_p.L118F|STIL_uc001crg.1_Missense_Mutation_p.L118F	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	118					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCCCAGGAAGAGAAGCAGTA	0.388		NaN											0	0	0	0.11911	0	12	14				
INADL	10207	broad.mit.edu	37	1	62330234	62330234	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:62330234C>G	uc001dab.2	+	20	2878	c.2764C>G	c.(2764-2766)CAA>GAA	p.Q922E	INADL_uc009waf.1_Missense_Mutation_p.Q922E|INADL_uc001daa.2_Missense_Mutation_p.Q922E|INADL_uc001dad.3_Missense_Mutation_p.Q619E|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	922					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						ATCCGAGTCTCAAGAGGCAAG	0.483		NaN											0	0	0	0.139131	0	58	54				
MSH4	4438	broad.mit.edu	37	1	76280741	76280741	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:76280741C>A	uc001dhd.1	+	5	776	c.735C>A	c.(733-735)TTC>TTA	p.F245L		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	245					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						GGAAATACTTCAATGAAACAA	0.323		NaN						MMR					1	0	4.68919e-08	0.069234	4.82149e-08	8	34				
ZZZ3	26009	broad.mit.edu	37	1	78031766	78031766	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:78031766C>G	uc001dhq.2	-	14	3043	c.2567G>C	c.(2566-2568)TGT>TCT	p.C856S	ZZZ3_uc001dhr.2_Missense_Mutation_p.C362S|ZZZ3_uc001dhp.2_Missense_Mutation_p.C855S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	856	ZZ-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						AAACACTTACCAGTCTGAACA	0.393		NaN											0	0	0	0.184627	0	4	15				
FUBP1	8880	broad.mit.edu	37	1	78428504	78428504	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:78428504G>A	uc001dii.2	-	14	1384	c.1295C>T	c.(1294-1296)ACT>ATT	p.T432I	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.T453I	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	432	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						CTGTTGTGGAGTGCCACGAAT	0.368		NaN											0	0	0	0.115264	0	3	30				
IFI44L	10964	broad.mit.edu	37	1	79107468	79107468	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:79107468G>A	uc010oro.1	+	9	1512	c.1333G>A	c.(1333-1335)GAG>AAG	p.E445K	IFI44L_uc010orp.1_Missense_Mutation_p.E182K|IFI44L_uc010orq.1_Missense_Mutation_p.E182K	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	445						cytoplasm					0						AGGTGCAATTGAGAGAGCGTT	0.448		NaN											0	0	0	0.139131	0	44	121				
GBP1	2633	broad.mit.edu	37	1	89522638	89522638	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:89522638C>G	uc001dmx.2	-	7	1274	c.1054G>C	c.(1054-1056)GAG>CAG	p.E352Q		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	352					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCAGCAGCTCCTGGAGGGTT	0.517		NaN											0	0	0	0.069288	0	18	48				
AMY2B	280	broad.mit.edu	37	1	104116527	104116527	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:104116527C>T	uc001duq.2	+	6	1327	c.711C>T	c.(709-711)TTC>TTT	p.F237F	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.F237F|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	237					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAACTGGTTCCCTGCAGGAA	0.363		NaN											0	0	0	0.139131	0	32	35				
NBPF16	728936	broad.mit.edu	37	1	148754879	148754879	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:148754879A>T	uc010pba.1	+	14	1726	c.1535A>T	c.(1534-1536)CAG>CTG	p.Q512L	NBPF16_uc009wkt.1_Missense_Mutation_p.Q292L	NM_001102663	NP_001096133			hypothetical protein LOC728936												0	all_hematologic(923;0.032)					GAAGTCTTGCAGGACTCACTG	0.468		NaN											0	0	0	0.115264	0	3	47				
SSR2	6746	broad.mit.edu	37	1	155989830	155989830	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:155989830C>T	uc001fmx.2	-	2	209	c.129G>A	c.(127-129)CAG>CAA	p.Q43Q	SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.Q62Q|SSR2_uc010pgw.1_Silent_p.Q62Q	NM_003145	NP_003136	P43308	SSRB_HUMAN	signal sequence receptor, beta precursor	43	Lumenal (Potential).				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGATGTTGTACTGCAAGGTCA	0.473		NaN											0	0	0	0.069234	0	8	65				
KIRREL	55243	broad.mit.edu	37	1	158059548	158059548	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:158059548G>C	uc001frn.3	+	10	1616	c.1212G>C	c.(1210-1212)GTG>GTC	p.V404V	KIRREL_uc010pib.1_Silent_p.V304V|KIRREL_uc009wsq.2_Silent_p.V240V|KIRREL_uc001fro.3_Silent_p.V218V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	404	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					AGTATGCTGTGAGGGGTGACG	0.602		NaN											0	0	0	0.139131	0	38	211				
DDR2	4921	broad.mit.edu	37	1	162750019	162750019	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:162750019C>A	uc001gcf.2	+	19	3016	c.2551C>A	c.(2551-2553)CAA>AAA	p.Q851K	DDR2_uc001gcg.2_Missense_Mutation_p.Q851K|uc001gch.1_5'Flank	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	851	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTGCTCCTTCAACAAGGCGA	0.527		NaN											1	0	2.68362e-12	0.09319	2.83031e-12	12	93				
ADCY10	55811	broad.mit.edu	37	1	167792259	167792259	+	Silent	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:167792259G>T	uc001ger.2	-	29	4453	c.4155C>A	c.(4153-4155)ATC>ATA	p.I1385I	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.I1293I|ADCY10_uc010plj.1_Silent_p.I1232I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1385					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						AATAAAGCAGGATGTCCAAGC	0.502		NaN											1	0	1.33834e-09	0.189662	1.38916e-09	16	39				
GPR161	23432	broad.mit.edu	37	1	168066120	168066120	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:168066120G>C	uc001gfc.2	-	5	1039	c.725C>G	c.(724-726)TCC>TGC	p.S242C	GPR161_uc001gfb.2_Missense_Mutation_p.S110C|GPR161_uc010pll.1_Missense_Mutation_p.S152C|GPR161_uc010plm.1_Missense_Mutation_p.S128C|GPR161_uc009wvo.2_Missense_Mutation_p.S259C|GPR161_uc001gfd.2_Missense_Mutation_p.S242C|GPR161_uc010pln.1_Missense_Mutation_p.S262C|GPR161_uc001gfe.1_Missense_Mutation_p.S242C	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	242	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					GGAGGTGCTGGAGTTCTTCCT	0.602		NaN											0	0	0	0.139131	0	89	106				
RFWD2	64326	broad.mit.edu	37	1	176050418	176050418	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:176050418T>C	uc001gku.1	-	11	1403	c.1147A>G	c.(1147-1149)AGT>GGT	p.S383G	RFWD2_uc001gkv.1_Missense_Mutation_p.S359G|RFWD2_uc001gkw.1_Missense_Mutation_p.S143G|RFWD2_uc009wwv.2_Missense_Mutation_p.S182G|RFWD2_uc001gkt.1_Missense_Mutation_p.S222G	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	383					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GCAGTTCGACTGTCATCTATA	0.323		NaN											0	0	0	0.069234	0	9	24				
KIAA1614	57710	broad.mit.edu	37	1	180904553	180904553	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:180904553G>A	uc001gok.2	+	5	1575	c.1508G>A	c.(1507-1509)CGG>CAG	p.R503Q	KIAA1614_uc001gol.1_Missense_Mutation_p.R124Q|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	503										ovary(3)|skin(1)	4						GGGGCTCCCCGGCTCCGGGAC	0.741		NaN											0	0	0	0.021553	0	4	23				
LAMC2	3918	broad.mit.edu	37	1	183208644	183208644	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:183208644G>C	uc001gqa.2	+	20	3329	c.3015G>C	c.(3013-3015)CAG>CAC	p.Q1005H	LAMC2_uc001gpz.3_Missense_Mutation_p.Q1005H|LAMC2_uc010poa.1_Missense_Mutation_p.Q705H	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1005	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CTGATGCACAGAGGGCAAAGA	0.537		NaN											0	0	0	0.183431	0	31	78				
LAMC2	3918	broad.mit.edu	37	1	183209259	183209259	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:183209259G>C	uc001gqa.2	+	21	3468	c.3154G>C	c.(3154-3156)GAG>CAG	p.E1052Q	LAMC2_uc001gpz.3_Missense_Mutation_p.E1052Q|LAMC2_uc010poa.1_Missense_Mutation_p.E752Q	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1052	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TCTGAAGAGTGAGATGAGGGA	0.507		NaN											0	0	0	0.055883	0	19	74				
FAM58B	339521	broad.mit.edu	37	1	200183191	200183191	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:200183191G>A	uc009wzi.1	+	1	536	c.500G>A	c.(499-501)CGG>CAG	p.R167Q		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	167					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					AGCTGGCAGCGGACCCCCGTT	0.627		NaN											0	0	0	0.173368	0	23	59				
NAV1	89796	broad.mit.edu	37	1	201749566	201749566	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749566C>A	uc001gwu.2	+	4	1591	c.1244C>A	c.(1243-1245)TCC>TAC	p.S415Y	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S24Y|NAV1_uc001gwx.2_Missense_Mutation_p.S24Y|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	415					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GAAAGCAGCTCCATCAGTAGT	0.463		NaN											1	0	4.59853e-10	0.108266	4.78831e-10	25	72				
NAV1	89796	broad.mit.edu	37	1	201749603	201749603	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749603C>G	uc001gwu.2	+	4	1628	c.1281C>G	c.(1279-1281)CTC>CTG	p.L427L	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Silent_p.L36L|NAV1_uc001gwx.2_Silent_p.L36L|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	427					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CAGACAATCTCAGTTCAGAAG	0.488		NaN											0	0	0	0.092188	0	32	82				
NAV1	89796	broad.mit.edu	37	1	201749677	201749677	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749677C>T	uc001gwu.2	+	4	1702	c.1355C>T	c.(1354-1356)TCA>TTA	p.S452L	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S61L|NAV1_uc001gwx.2_Missense_Mutation_p.S61L|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	452					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CGCAGGAACTCAACAATAGTG	0.498		NaN											0	0	0	0.144211	0	22	74				
SLC30A1	7779	broad.mit.edu	37	1	211751465	211751465	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:211751465G>A	uc001hio.1	-	1	635	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	164	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CTCTTAACGCGAGGCCCCTTG	0.701		NaN											0	0	0	0.184627	0	4	16				
KCNK2	3776	broad.mit.edu	37	1	215259881	215259881	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:215259881C>G	uc001hkq.2	+	2	386	c.217C>G	c.(217-219)CTG>GTG	p.L73V	KCNK2_uc001hko.2_Missense_Mutation_p.L69V|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.L58V	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	73	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGTCCTCTATCTGATCATCGG	0.483		NaN											0	0	0	0.189662	0	17	29				
LBR	3930	broad.mit.edu	37	1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:225598067C>T	uc001hoy.2	-	10	1383	c.1240G>A	c.(1240-1242)GCT>ACT	p.A414T	LBR_uc001hoz.2_Missense_Mutation_p.A414T|LBR_uc001hpa.1_Missense_Mutation_p.A414T	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.358		NaN											0	0	0	0.069288	0	16	69				
LYST	1130	broad.mit.edu	37	1	235973651	235973651	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:235973651C>G	uc001hxj.2	-	5	642	c.467G>C	c.(466-468)AGA>ACA	p.R156T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R156T	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	156					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGCATCTCTTACAGAATA	0.418		NaN							Chediak-Higashi_syndrome				0	0	0	0.193644	0	30	42				
FMN2	56776	broad.mit.edu	37	1	240255687	240255687	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:240255687C>T	uc010pyd.1	+	1	503	c.278C>T	c.(277-279)TCC>TTC	p.S93F	FMN2_uc010pye.1_Missense_Mutation_p.S93F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	93					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGGCGGCTCCCGCGAAGAT	0.617		NaN											0	0	0	0.069234	0	9	27				
FMN2	56776	broad.mit.edu	37	1	240255999	240255999	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:240255999C>G	uc010pyd.1	+	1	815	c.590C>G	c.(589-591)TCA>TGA	p.S197*	FMN2_uc010pye.1_Nonsense_Mutation_p.S197*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	197	Potential.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATTTGCTTTCAGACATCCAG	0.413		NaN											0	0	0	0.038147	0	7	38				
TUBB8	347688	broad.mit.edu	37	10	93872	93872	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:93872T>G	uc001ifi.2	-	4	460	c.460A>C	c.(460-462)AAG>CAG	p.K154Q	TUBB8_uc009xhe.2_Missense_Mutation_p.K117Q|TUBB8_uc010pzs.1_Missense_Mutation_p.K82Q	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	154					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCCCGGATCTTACTGAGCAGA	0.602		NaN											0	0	0	0.175082	0	15	250				
PFKFB3	5209	broad.mit.edu	37	10	6261552	6261552	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:6261552G>A	uc001ije.2	+	7	903	c.519G>A	c.(517-519)CCG>CCA	p.P173P	PFKFB3_uc001ijd.2_Silent_p.P153P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.P187P|PFKFB3_uc001ijf.2_Silent_p.P173P	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	173	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.P173P(1)		ovary(2)|central_nervous_system(1)	3						TCTCCAGCCCGGATTACAAAG	0.507		NaN											0	0	0	0.184627	0	5	110				
CUBN	8029	broad.mit.edu	37	10	17153011	17153011	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:17153011C>T	uc001ioo.2	-	9	974	c.922G>A	c.(922-924)GAA>AAA	p.E308K		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	308	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCTCACATTCATTGATATCT	0.413		NaN											0	0	0	0.146539	0	14	70				
NSUN6	221078	broad.mit.edu	37	10	18905124	18905124	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:18905124G>A	uc010qcp.1	-	4	828	c.410C>T	c.(409-411)TCA>TTA	p.S137L		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	137	PUA.						methyltransferase activity|RNA binding			ovary(2)	2						TTGTGATGCTGACACAATTCC	0.343		NaN											0	0	0	0.139131	0	39	10				
NEBL	10529	broad.mit.edu	37	10	21102872	21102872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:21102872G>C	uc001iqi.2	-	23	2739	c.2342C>G	c.(2341-2343)TCA>TGA	p.S781*	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	781	Nebulin 22.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CCCTACCATTGAAATATGATT	0.383		NaN											0	0	0	0.105934	0	9	29				
RASGEF1A	221002	broad.mit.edu	37	10	43696157	43696157	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:43696157G>A	uc001jap.1	-	5	720	c.639C>T	c.(637-639)TGC>TGT	p.C213C	RASGEF1A_uc001jao.1_Silent_p.C221C	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	213					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						CCAGGGGGTCGCAGCACACGC	0.642		NaN											0	0	0	0.021553	0	5	54				
ZNF32	7580	broad.mit.edu	37	10	44140096	44140096	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:44140096C>G	uc001jbb.2	-	3	413	c.224G>C	c.(223-225)AGG>ACG	p.R75T	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.R75T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTCATAGACCCTTTGTCTCAC	0.448		NaN											0	0	0	0.139131	0	37	23				
PAPSS2	9060	broad.mit.edu	37	10	89504908	89504908	+	Silent	SNP	C	C	T	rs7918595		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:89504908C>T	uc001kex.2	+	11	1889	c.1626C>T	c.(1624-1626)CTC>CTT	p.L542L	PAPSS2_uc001kew.2_Silent_p.L547L	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	542	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCCCTGGCCTCACCTCTGTGG	0.512		NaN											0	0	0	0.189662	0	16	4				
ACTA2	59	broad.mit.edu	37	10	90695108	90695108	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:90695108C>T	uc001kfp.2	-	9	1122	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E291K|ACTA2_uc001kfq.2_Missense_Mutation_p.E336K|uc001kfo.1_RNA	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	336					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TATTTGCGCTCCGGAGGGGCA	0.507		NaN									OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	56	16				
CUTC	51076	broad.mit.edu	37	10	101503808	101503808	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:101503808C>G	uc001kqd.3	+	5	566	c.418C>G	c.(418-420)CTG>GTG	p.L140V	CUTC_uc010qpk.1_Missense_Mutation_p.L140V|CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	140					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TTGCCGCCCTCTGCCAGTCAC	0.348		NaN											0	0	0	0.214465	0	23	9				
GFRA1	2674	broad.mit.edu	37	10	118030457	118030457	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:118030457C>G	uc001lcj.2	-	3	909	c.211G>C	c.(211-213)GAG>CAG	p.E71Q	GFRA1_uc001lci.2_Missense_Mutation_p.E71Q|GFRA1_uc009xyr.2_Missense_Mutation_p.E71Q	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	71	1.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCGGCACTCATCCTTGGCC	0.607		NaN											0	0	0	0.086207	0	33	49				
ANO9	338440	broad.mit.edu	37	11	418436	418436	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:418436G>A	uc001lpi.2	-	23	2369	c.2284C>T	c.(2284-2286)CGG>TGG	p.R762W	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R455W|ANO9_uc010qvv.1_Missense_Mutation_p.R618W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	762	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ATTGGGGGCCGAGAGCCTGCC	0.627		NaN											0	0	0	0.132662	0	14	28				
TSPAN4	7106	broad.mit.edu	37	11	862710	862710	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:862710C>T	uc001lsd.1	+	4	433	c.224C>T	c.(223-225)GCC>GTC	p.A75V	TSPAN4_uc001lse.1_Missense_Mutation_p.A11V|TSPAN4_uc001lsf.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsg.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsh.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsi.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsj.1_Missense_Mutation_p.A75V	NM_003271	NP_003262	O14817	TSN4_HUMAN	tetraspanin 4 isoform a	75	Helical; (Potential).				protein complex assembly	integral to plasma membrane				breast(1)	1		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCTGGGTGCCATCAAGGAG	0.667		NaN											0	0	0	0.080935	0	8	22				
OR52W1	120787	broad.mit.edu	37	11	6220474	6220474	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:6220474C>G	uc010qzz.1	+	1	21	c.21C>G	c.(19-21)CTC>CTG	p.L7L		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTACAACTCAATTCCACCT	0.517		NaN											0	0	0	0.214465	0	34	43				
TSG101	7251	broad.mit.edu	37	11	18503374	18503374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:18503374C>A	uc001mor.2	-	9	1012	c.886G>T	c.(886-888)GAA>TAA	p.E296*		NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	296	Potential.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						CTGAGTTCTTCATCCTTCTTT	0.358		NaN											1	0	2.17888e-05	0.058154	2.21948e-05	10	13				
API5	8539	broad.mit.edu	37	11	43333683	43333683	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:43333683G>A	uc010rfh.1	+	1	179	c.6G>A	c.(4-6)CCG>CCA	p.P2P	API5_uc010rfg.1_5'UTR|API5_uc001mxf.2_Silent_p.P2P|API5_uc010rfi.1_Silent_p.P2P	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	2		Not acetylated.			anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCACCATGCCGACAGTAGAGG	0.647		NaN									OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	42	35				
TCN1	6947	broad.mit.edu	37	11	59630175	59630175	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:59630175C>G	uc001noj.2	-	3	378	c.280G>C	c.(280-282)GAG>CAG	p.E94Q		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	94					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCAAGCTCTCCCGAGCTT	0.383		NaN											0	0	0	0.055883	0	15	26				
KRTAP5-11	440051	broad.mit.edu	37	11	71293573	71293573	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:71293573G>C	uc001oqu.2	-	1	349	c.311C>G	c.(310-312)TCC>TGC	p.S104C		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	104	6 X 4 AA repeats of C-C-X-P.					keratin filament					0						ggagcagctggactggcagca	0.179		NaN											0	0	0	0.139131	0	65	149				
NAALAD2	10003	broad.mit.edu	37	11	89914805	89914805	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:89914805G>A	uc001pdf.3	+	17	1985	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	NAALAD2_uc009yvx.2_Missense_Mutation_p.V593M|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTTTCTGCTGTGAAAAACTT	0.318		NaN											0	0	0	0.184627	0	3	10				
NAALAD2	10003	broad.mit.edu	37	11	89924900	89924900	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:89924900G>A	uc001pdf.3	+	19	2317	c.2208G>A	c.(2206-2208)CTG>CTA	p.L736L	NAALAD2_uc009yvx.2_Silent_p.L703L|NAALAD2_uc009yvy.2_3'UTR	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	736	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGAACTCTGAAAGAAGTAT	0.368		NaN											0	0	0	0.038147	0	6	17				
IL10RA	3587	broad.mit.edu	37	11	117869673	117869673	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:117869673G>A	uc001prv.2	+	7	1131	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	IL10RA_uc010rxl.1_Missense_Mutation_p.E332K|IL10RA_uc010rxm.1_Missense_Mutation_p.E332K|IL10RA_uc010rxn.1_Missense_Mutation_p.E203K|IL10RA_uc001prw.2_Missense_Mutation_p.E203K	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	352	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGGAAACAGGGAGCCCCCTGT	0.647		NaN											0	0	0	0.108266	0	19	29				
GNB3	2784	broad.mit.edu	37	12	6954874	6954874	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:6954874C>G	uc001qrd.2	+	10	1229	c.824C>G	c.(823-825)TCC>TGC	p.S275C	GNB3_uc001qrc.2_Missense_Mutation_p.S231C|GNB3_uc009zfe.2_Missense_Mutation_p.S274C|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	275	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GGCATCACGTCCGTGGCCTTC	0.597		NaN											0	0	0	0.139131	0	149	237				
CDCA3	83461	broad.mit.edu	37	12	6959647	6959647	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:6959647C>T	uc001qrg.2	-	3	362	c.234G>A	c.(232-234)ATG>ATA	p.M78I	CDCA3_uc001qre.2_Missense_Mutation_p.M78I|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	78					cell division|mitosis	cytosol					0						TGCTGGTCTTCATAGGTGTCC	0.542		NaN											0	0	0	0.139131	0	96	117				
ATF7IP	55729	broad.mit.edu	37	12	14633975	14633975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:14633975C>T	uc001rbw.2	+	13	3294	c.3136C>T	c.(3136-3138)CAG>TAG	p.Q1046*	ATF7IP_uc001rbv.1_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.Q1046*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.Q1046*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1046					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TCCAGTAACTCAGGTGACCAC	0.453		NaN											0	0	0	0.139131	0	37	40				
YAF2	10138	broad.mit.edu	37	12	42554413	42554413	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:42554413G>A	uc001rmv.2	-	4	589	c.521C>T	c.(520-522)TCA>TTA	p.S174L	YAF2_uc001rmw.2_Missense_Mutation_p.S198L|YAF2_uc010sko.1_Missense_Mutation_p.S165L|YAF2_uc010skp.1_Missense_Mutation_p.S132L	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	174					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding				0	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TCCATTCAATGATGAGGCTTC	0.423		NaN											0	0	0	0.058154	0	8	6				
KRT6C	286887	broad.mit.edu	37	12	52865005	52865006	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:52865005_52865006GG>TT	uc001sal.3	-	5	1035_1036	c.987_988CC>AA	c.(985-990)GACCTG>GAAATG	p.329_330DL>EM		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	329_330	Rod.|Linker 12.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATGCTGTCCAGGTCCAGGTTGC	0.559		NaN											0	0	0	0.115264	0	75	107				
PAN2	9924	broad.mit.edu	37	12	56718262	56718262	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:56718262G>A	uc001skx.2	-	12	2117	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.R582W|PAN2_uc001sky.2_Missense_Mutation_p.R582W	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	582					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CGGAATGCCCGAAGAAAATTA	0.498		NaN											0	0	0	0.058154	0	10	5				
HAL	3034	broad.mit.edu	37	12	96368046	96368046	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:96368046C>T	uc001tem.1	-	21	2235	c.1938G>A	c.(1936-1938)AAG>AAA	p.K646K	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.K438K|HAL_uc010sux.1_3'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	646					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TGGTGGATTTCTTGTGCAGAA	0.438		NaN											0	0	0	0.069288	0	20	61				
ASCL1	429	broad.mit.edu	37	12	103352354	103352354	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:103352354G>T	uc001tjr.3	+	1	903	c.332G>T	c.(331-333)AGC>ATC	p.S111I		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	111					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						TTTGGCTACAGCCTGCCGCAG	0.662		NaN											1	0	7.07596e-05	0.175082	7.16332e-05	15	9				
HSP90B1	7184	broad.mit.edu	37	12	104341191	104341191	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:104341191G>A	uc001tkb.1	+	17	2470	c.2365G>A	c.(2365-2367)GAA>AAA	p.E789K	HSP90B1_uc010swg.1_Missense_Mutation_p.E454K|HSP90B1_uc009zui.1_Silent_p.K325K	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	789					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	aacagatgaagaagaagaaAC	0.184		NaN											0	0	0	0.105934	0	14	9				
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:133732691C>T	uc009zzb.2	+	5	1306	c.859C>T	c.(859-861)CAT>TAT	p.H287Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	287	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418		NaN											0	0	0	0.09319	0	9	55				
FREM2	341640	broad.mit.edu	37	13	39438670	39438670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:39438670G>A	uc001uwv.2	+	16	8219	c.7910G>A	c.(7909-7911)TGG>TAG	p.W2637*	FREM2_uc001uww.2_Nonsense_Mutation_p.W723*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2637	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCTGTTTATGGGAGTTCGTT	0.458		NaN											0	0	0	0.062417	0	20	27				
KBTBD6	89890	broad.mit.edu	37	13	41705613	41705613	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:41705613C>A	uc001uxu.1	-	1	1324	c.1035G>T	c.(1033-1035)ATG>ATT	p.M345I	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M279I|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	345							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGAAGATCACCATCTCCTTGG	0.448		NaN											1	0	0.000673444	0.069234	0.000677576	5	63				
KBTBD7	84078	broad.mit.edu	37	13	41767359	41767359	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:41767359C>A	uc001uxw.1	-	1	1344	c.1035G>T	c.(1033-1035)ATG>ATT	p.M345I	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	345							protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGAAGATCACCATCTCCTTGG	0.428		NaN											1	0	5.03518e-11	0.189662	5.27649e-11	11	13				
SLC25A30	253512	broad.mit.edu	37	13	45973211	45973211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:45973211G>C	uc001vag.2	-	8	754	c.617C>G	c.(616-618)TCA>TGA	p.S206*	SLC25A30_uc010tfs.1_Nonsense_Mutation_p.S131*|SLC25A30_uc001vah.2_Nonsense_Mutation_p.S131*|SLC25A30_uc010tft.1_Nonsense_Mutation_p.S155*|SLC25A30_uc001vaf.2_Nonsense_Mutation_p.S62*	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	206	Helical; Name=5; (Potential).|Solcar 3.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GGTGAAGCTTGAGCTATAAAG	0.463		NaN											0	0	0	0.047766	0	7	34				
ESD	2098	broad.mit.edu	37	13	47365491	47365491	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:47365491C>T	uc001vbn.2	-	3	241	c.58G>A	c.(58-60)GAA>AAA	p.E20K	ESD_uc001vbo.2_Missense_Mutation_p.E20K	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	20						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CTGTCATGTTCAAAAACTTTC	0.303		NaN											0	0	0	0.189662	0	13	12				
FNDC3A	22862	broad.mit.edu	37	13	49762735	49762735	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:49762735G>A	uc001vcm.2	+	17	2215	c.1910G>A	c.(1909-1911)CGA>CAA	p.R637Q	FNDC3A_uc001vcn.2_Missense_Mutation_p.R637Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.R563Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.R581Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	637	Fibronectin type-III 4.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATCGTTTACGAGTTTACTGC	0.413		NaN											0	0	0	0.134883	0	24	157				
EDNRB	1910	broad.mit.edu	37	13	78477333	78477333	+	Silent	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:78477333T>C	uc001vko.2	-	3	1017	c.759A>G	c.(757-759)CGA>CGG	p.R253R	EDNRB_uc001vkq.1_Silent_p.R253R|uc001vkn.1_Intron|EDNRB_uc010aez.1_Silent_p.R253R|EDNRB_uc001vkp.1_Silent_p.R336R	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	253	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCAAGCAGATTCGCAGATAAC	0.373		NaN											0	0	0	0.163468	0	23	34				
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:22134223G>A	uc010tmd.1	+	1	927	c.927G>A	c.(925-927)ACG>ACA	p.T309T		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393		NaN											0	0	0	0.150653	0	4	11				
SCFD1	23256	broad.mit.edu	37	14	31169416	31169416	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:31169416G>C	uc001wqm.1	+	16	1386	c.1362G>C	c.(1360-1362)ATG>ATC	p.M454I	SCFD1_uc001wqn.1_Missense_Mutation_p.M387I|SCFD1_uc010tpg.1_Missense_Mutation_p.M395I|SCFD1_uc010tph.1_Missense_Mutation_p.M269I|SCFD1_uc010amf.1_Missense_Mutation_p.M269I|SCFD1_uc010tpi.1_Missense_Mutation_p.M362I|SCFD1_uc010amd.1_Missense_Mutation_p.M286I|SCFD1_uc010ame.1_Missense_Mutation_p.M387I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	454					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAGATAAAATGAGGTTGTTTC	0.348		NaN											0	0	0	0.099896	0	20	37				
PTGER2	5732	broad.mit.edu	37	14	52781491	52781491	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:52781491G>A	uc001wzr.2	+	1	476	c.225G>A	c.(223-225)GTG>GTA	p.V75V		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	75	Helical; Name=2; (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CCGAGCTGGTGTTCACCGACC	0.711		NaN											0	0	0	0.062417	0	18	60				
SPTB	6710	broad.mit.edu	37	14	65260362	65260362	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:65260362G>C	uc001xht.2	-	13	2073	c.2019C>G	c.(2017-2019)CTC>CTG	p.L673L	SPTB_uc001xhr.2_Silent_p.L673L|SPTB_uc001xhs.2_Silent_p.L673L|SPTB_uc001xhu.2_Silent_p.L673L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	673	Spectrin 4.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTGTAAGATGAGCACACTGG	0.547		NaN											0	0	0	0.080935	0	11	22				
C14orf174	161394	broad.mit.edu	37	14	77843846	77843846	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:77843846C>T	uc001xtq.1	+	1	85	c.85C>T	c.(85-87)CAT>TAT	p.H29Y	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	29											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GCCTGGACTTCATAAATTGTA	0.517		NaN											0	0	0	0.146539	0	15	21				
FLRT2	23768	broad.mit.edu	37	14	86087957	86087957	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86087957C>G	uc001xvr.2	+	2	866	c.99C>G	c.(97-99)CTC>CTG	p.L33L	FLRT2_uc010atd.2_Silent_p.L33L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	33					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTCCAAACTCCTGGCCTGCC	0.547		NaN											0	0	0	0.139131	0	53	50				
FLRT2	23768	broad.mit.edu	37	14	86088062	86088062	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86088062C>G	uc001xvr.2	+	2	971	c.204C>G	c.(202-204)CTC>CTG	p.L68L	FLRT2_uc010atd.2_Silent_p.L68L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	68	Extracellular (Potential).|LRR 1.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTGTACTCTACCTCCACA	0.517		NaN											0	0	0	0.139131	0	66	49				
FLRT2	23768	broad.mit.edu	37	14	86088862	86088862	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86088862G>T	uc001xvr.2	+	2	1771	c.1004G>T	c.(1003-1005)CGG>CTG	p.R335L	FLRT2_uc010atd.2_Missense_Mutation_p.R335L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	335	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCAACGTGCGGGGTTTCATG	0.507		NaN											1	0	4.44732e-65	0.139131	4.78269e-65	87	93				
KCNK13	56659	broad.mit.edu	37	14	90650720	90650720	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650720C>G	uc001xye.1	+	2	1042	c.600C>G	c.(598-600)ATC>ATG	p.I200M		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	200	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TCATGCTGATCCTATGCACAG	0.592		NaN											0	0	0	0.09836	0	32	162				
KCNK13	56659	broad.mit.edu	37	14	90650738	90650738	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650738C>T	uc001xye.1	+	2	1060	c.618C>T	c.(616-618)ATC>ATT	p.I206I		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	206	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CAGCCTCCATCCTCATCTCTT	0.562		NaN											0	0	0	0.124865	0	34	162				
KCNK13	56659	broad.mit.edu	37	14	90650948	90650948	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650948C>G	uc001xye.1	+	2	1270	c.828C>G	c.(826-828)TTC>TTG	p.F276L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	276	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				ACTCCTTGTTCAATGTCATCT	0.522		NaN											0	0	0	0.153744	0	23	78				
KCNK13	56659	broad.mit.edu	37	14	90650969	90650969	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650969C>G	uc001xye.1	+	2	1291	c.849C>G	c.(847-849)ATC>ATG	p.I283M		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	283	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CTATCCTCATCAAACAGTCCT	0.517		NaN											0	0	0	0.173368	0	26	94				
GOLGA5	9950	broad.mit.edu	37	14	93299516	93299516	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:93299516G>A	uc001yaz.1	+	10	1951	c.1769G>A	c.(1768-1770)CGA>CAA	p.R590Q	GOLGA5_uc001yba.1_5'UTR	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	590	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAAAATCGACTCCATCAG	0.403		NaN	T	RET	papillary thyroid								0	0	0	0.146539	0	12	38				
SLC25A29	123096	broad.mit.edu	37	14	100758860	100758860	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:100758860G>A	uc001yha.2	-	4	963	c.672C>T	c.(670-672)GGC>GGT	p.G224G	SLC25A29_uc010avv.2_Silent_p.G158G|SLC25A29_uc010twx.1_Missense_Mutation_p.A202V	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN	solute carrier family 25, member 29	224	Solcar 3.					integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1		Melanoma(154;0.152)			L-Carnitine(DB00583)	AGCGCGGGGCGCCCCGCAGTC	0.706		NaN											0	0	0	0.047766	0	7	19				
CYFIP1	23191	broad.mit.edu	37	15	22955190	22955190	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:22955190C>A	uc001yus.2	+	15	1688	c.1584C>A	c.(1582-1584)TTC>TTA	p.F528L	CYFIP1_uc001yut.2_Missense_Mutation_p.F528L|CYFIP1_uc010aya.1_Missense_Mutation_p.F556L|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	528					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAGCCCTTCAATGACCCAG	0.622		NaN											1	0	4.44401e-20	0.117977	4.748e-20	33	49				
RYR3	6263	broad.mit.edu	37	15	33928729	33928729	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:33928729C>T	uc001zhi.2	+	27	3604	c.3534C>T	c.(3532-3534)TTC>TTT	p.F1178F	RYR3_uc010bar.2_Silent_p.F1178F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1178	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTTGCCTTCGCTGACTACG	0.493		NaN											0	0	0	0.09319	0	11	54				
RYR3	6263	broad.mit.edu	37	15	33936718	33936718	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:33936718G>C	uc001zhi.2	+	28	3833	c.3763G>C	c.(3763-3765)GAG>CAG	p.E1255Q	RYR3_uc010bar.2_Missense_Mutation_p.E1255Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1255	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCACACATAGAGGTAATGTT	0.512		NaN											0	0	0	0.02938	0	6	13				
RYR3	6263	broad.mit.edu	37	15	34151822	34151822	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:34151822T>G	uc001zhi.2	+	100	14259	c.14189T>G	c.(14188-14190)ATT>AGT	p.I4730S	RYR3_uc010bar.2_Missense_Mutation_p.I4725S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4730	Helical; Name=M9; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGTGGCATTGGTGATGAA	0.423		NaN											0	0	0	0.069234	0	9	29				
CASC5	57082	broad.mit.edu	37	15	40913375	40913375	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:40913375G>A	uc010bbs.1	+	11	1152	c.991G>A	c.(991-993)GAA>AAA	p.E331K	CASC5_uc010ucq.1_Missense_Mutation_p.E155K|CASC5_uc001zme.2_Missense_Mutation_p.E305K|CASC5_uc010bbt.1_Missense_Mutation_p.E305K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	331	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAACTCACGGGAATCTAAAGG	0.378		NaN											0	0	0	0.069234	0	10	26				
INO80	54617	broad.mit.edu	37	15	41365655	41365655	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:41365655C>T	uc001zni.2	-	11	1579	c.1366G>A	c.(1366-1368)GAA>AAA	p.E456K	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	456	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TAAGCATTTTCAGCATTCTTC	0.378		NaN											0	0	0	0.069234	0	6	49				
WDR76	79968	broad.mit.edu	37	15	44149340	44149340	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:44149340A>G	uc001zti.1	+	10	1411	c.1388A>G	c.(1387-1389)TAT>TGT	p.Y463C		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	463	WD 4.										0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CATAGACAGTATTTTATCACT	0.373		NaN											0	0	0	0.175082	0	12	16				
DUOX2	50506	broad.mit.edu	37	15	45389939	45389939	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:45389939C>T	uc010bea.2	-	28	3769	c.3566G>A	c.(3565-3567)GGT>GAT	p.G1189D	DUOX2_uc001zun.2_Missense_Mutation_p.G1189D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1189	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACCTGTCATACCTGGGGGCAG	0.587		NaN											0	0	0	0.204396	0	16	55				
PLEKHO2	80301	broad.mit.edu	37	15	65157389	65157389	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157389G>C	uc002anv.2	+	6	909	c.775G>C	c.(775-777)GAG>CAG	p.E259Q	PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.E209Q	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	259	Pro-rich.									ovary(1)|lung(1)	2						CAGTGGCTCTGAGCAGCCTCC	0.632		NaN											0	0	0	0.144211	0	25	32				
PLEKHO2	80301	broad.mit.edu	37	15	65157595	65157595	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157595G>C	uc002anv.2	+	6	1115	c.981G>C	c.(979-981)GAG>GAC	p.E327D	PLEKHO2_uc010bgz.2_Missense_Mutation_p.E3D|PLEKHO2_uc002anw.2_Missense_Mutation_p.E277D	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	327	Pro-rich.									ovary(1)|lung(1)	2						CCATGGGTGAGATGCAGGCTT	0.597		NaN											0	0	0	0.09319	0	8	21				
PLEKHO2	80301	broad.mit.edu	37	15	65157914	65157914	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157914G>A	uc002anv.2	+	6	1434	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	PLEKHO2_uc010bgz.2_Missense_Mutation_p.E110K|PLEKHO2_uc002anw.2_Missense_Mutation_p.E384K	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	434										ovary(1)|lung(1)	2						GCTGGGCAGTGAGCCGGCCCC	0.602		NaN											0	0	0	0.144211	0	28	21				
RASL12	51285	broad.mit.edu	37	15	65360144	65360144	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65360144C>G	uc002aoi.1	-	1	245	c.30G>C	c.(28-30)GCG>GCC	p.A10A	RASL12_uc002aoj.1_Silent_p.A10A|RASL12_uc010uir.1_Intron	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	10					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						GCCCGCTGCCCGCGCGGGGTT	0.766		NaN											0	0	0	0.058154	0	8	11				
BBS4	585	broad.mit.edu	37	15	73007669	73007669	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:73007669C>G	uc002avb.2	+	5	301	c.258C>G	c.(256-258)TCC>TCG	p.S86S	BBS4_uc010ukv.1_Silent_p.S74S|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Silent_p.S94S	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	86	TPR 1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						TCCAAGAATCCCTAGAACTCT	0.443		NaN							Bardet-Biedl_syndrome				0	0	0	0.132662	0	13	26				
RASGRF1	5923	broad.mit.edu	37	15	79284125	79284125	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:79284125C>T	uc002beq.2	-	22	3462	c.3087G>A	c.(3085-3087)GTG>GTA	p.V1029V	RASGRF1_uc002bep.2_Silent_p.V1013V|RASGRF1_uc010blm.1_Silent_p.V938V|RASGRF1_uc002ber.3_Silent_p.V1013V|RASGRF1_uc010unh.1_Silent_p.V424V|RASGRF1_uc002beo.2_Silent_p.V245V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1031					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GCTCAGCCTTCACGCCTTCAG	0.542		NaN											0	0	0	0.047766	0	8	29				
RASGRF1	5923	broad.mit.edu	37	15	79284133	79284133	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:79284133C>T	uc002beq.2	-	22	3454	c.3079G>A	c.(3079-3081)GAA>AAA	p.E1027K	RASGRF1_uc002bep.2_Missense_Mutation_p.E1011K|RASGRF1_uc010blm.1_Missense_Mutation_p.E936K|RASGRF1_uc002ber.3_Missense_Mutation_p.E1011K|RASGRF1_uc010unh.1_Missense_Mutation_p.E422K|RASGRF1_uc002beo.2_Missense_Mutation_p.E243K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1029					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TTCACGCCTTCAGCCTGGTTT	0.547		NaN											0	0	0	0.02938	0	6	27				
CPEB1	64506	broad.mit.edu	37	15	83218237	83218237	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:83218237C>G	uc002bit.2	-	9	1704	c.1567G>C	c.(1567-1569)GAC>CAC	p.D523H	CPEB1_uc002biq.2_Missense_Mutation_p.D383H|CPEB1_uc002bir.2_Missense_Mutation_p.D388H|CPEB1_uc002bis.2_Missense_Mutation_p.D383H|CPEB1_uc010uod.1_Missense_Mutation_p.D232H|CPEB1_uc010uoe.1_Missense_Mutation_p.D461H|CPEB1_uc002biu.2_Missense_Mutation_p.D485H|CPEB1_uc010uof.1_Missense_Mutation_p.D383H|CPEB1_uc002biv.2_Missense_Mutation_p.D458H|CPEB1_uc002bip.2_Missense_Mutation_p.D232H	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	463	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTATCTGTGTCAATCCCGGCA	0.517		NaN											0	0	0	0.062417	0	16	41				
GNPTG	84572	broad.mit.edu	37	16	1413046	1413046	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:1413046C>T	uc002clm.2	+	11	907	c.872C>T	c.(871-873)TCT>TTT	p.S291F		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	291						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				AGAGCCAAGTCTCCAGAGCAG	0.622		NaN											0	0	0	0.09319	0	11	19				
TBL3	10607	broad.mit.edu	37	16	2024268	2024268	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:2024268G>A	uc002cnu.1	+	3	266	c.164G>A	c.(163-165)GGG>GAG	p.G55E	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	55					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GTGGCCTCGGGGGCCGTGCTG	0.647		NaN											0	0	0	0.11126	0	38	83				
DNAH3	55567	broad.mit.edu	37	16	20999096	20999096	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:20999096C>T	uc010vbe.1	-	46	6801	c.6801G>A	c.(6799-6801)TCG>TCA	p.S2267S	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2267	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AATGTGACTTCGAGGGAGTTG	0.493		NaN											0	0	0	0.193644	0	29	12				
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637		NaN											0	0	0	0.163468	0	28	18				
PRRT2	112476	broad.mit.edu	37	16	29824403	29824403	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:29824403G>C	uc002due.3	+	2	329	c.28G>C	c.(28-30)GAG>CAG	p.E10Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.E10Q|PRRT2_uc002duf.1_Missense_Mutation_p.E10Q	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	10	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0						TGAGATCTCTGAGATGAAGGG	0.587		NaN											0	0	0	0.108266	0	24	78				
FTO	79068	broad.mit.edu	37	16	53967927	53967927	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:53967927G>C	uc002ehr.2	+	8	1492	c.1270G>C	c.(1270-1272)GAG>CAG	p.E424Q	FTO_uc010vha.1_Missense_Mutation_p.E128Q|FTO_uc010cbz.2_Missense_Mutation_p.E25Q|FTO_uc002ehs.2_RNA	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	424					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGTTAAAAGAGAGGGGCTCCC	0.418		NaN											0	0	0	0.146539	0	12	25				
GPR97	222487	broad.mit.edu	37	16	57714456	57714456	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:57714456C>A	uc002emh.2	+	8	911	c.808C>A	c.(808-810)CGC>AGC	p.R270S	GPR97_uc010vhv.1_Missense_Mutation_p.R150S|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'UTR	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	270	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TATCCTCACACGCATCTCCCA	0.577		NaN											1	0	1.96642e-18	0.092188	2.09411e-18	31	86				
KCTD19	146212	broad.mit.edu	37	16	67331452	67331452	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:67331452C>T	uc002esu.2	-	7	1152	c.1101G>A	c.(1099-1101)TTG>TTA	p.L367L	KCTD19_uc002est.2_Silent_p.L139L|KCTD19_uc010vjj.1_Silent_p.L110L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	367						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GATGAGTCTTCAAAGCAACTT	0.493		NaN											0	0	0	0.146539	0	17	30				
RLTPR	146206	broad.mit.edu	37	16	67685194	67685194	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:67685194C>T	uc002etn.2	+	23	2409	c.2289C>T	c.(2287-2289)ATC>ATT	p.I763I	RLTPR_uc010cel.1_Silent_p.I756I|RLTPR_uc010vjr.1_Silent_p.I727I|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	763										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGGATGCCATCCAAAATGCCA	0.587		NaN											0	0	0	0.139131	0	42	86				
ZNF594	84622	broad.mit.edu	37	17	5086617	5086617	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:5086617T>C	uc010cla.1	-	2	1091	c.935A>G	c.(934-936)GAA>GGA	p.E312G		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	312	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCTCTGGTGTTCAGTAAGGTG	0.453		NaN											0	0	0	0.069288	0	21	25				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:7578454G>A	uc002gim.2	-	5	670	c.476C>T	c.(475-477)GCC>GTC	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.139131	0	63	19		Valid		
ODF4	146852	broad.mit.edu	37	17	8248778	8248778	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:8248778T>C	uc002gle.1	+	2	754	c.572T>C	c.(571-573)ATC>ACC	p.I191T		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	191	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						CTGGTGCTTATCCTATACTTC	0.532		NaN											0	0	0	0.139131	0	75	30				
MAP2K3	5606	broad.mit.edu	37	17	21207742	21207742	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:21207742G>A	uc002gys.2	+	8	838	c.573G>A	c.(571-573)GTG>GTA	p.V191V	MAP2K3_uc002gyt.2_Silent_p.V162V|MAP2K3_uc002gyu.2_Silent_p.V162V	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	191	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGGCAGATGTGAAGCCCTCCA	0.577		NaN											0	0	0	0.117977	0	36	95				
KSR1	8844	broad.mit.edu	37	17	25932610	25932610	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:25932610G>C	uc010crg.2	+	15	1865	c.1420G>C	c.(1420-1422)GAG>CAG	p.E474Q	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Missense_Mutation_p.E253Q	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	609					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCCCCTTCGAGCAGGTAGA	0.711		NaN											0	0	0	0.115264	0	3	10				
GIT1	28964	broad.mit.edu	37	17	27909075	27909075	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:27909075C>T	uc002hef.2	-	5	707	c.493G>A	c.(493-495)GAG>AAG	p.E165K	GIT1_uc002heg.2_Missense_Mutation_p.E165K|GIT1_uc010wbg.1_Missense_Mutation_p.E165K|GIT1_uc010csb.1_Missense_Mutation_p.E165K	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	165					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGCCCTTCTCTGGGTGGAAG	0.617		NaN											0	0	0	0.214465	0	36	29				
ACACA	31	broad.mit.edu	37	17	35549207	35549207	+	Missense_Mutation	SNP	G	G	C	rs148729289	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:35549207G>C	uc002hnm.2	-	37	4320	c.4129C>G	c.(4129-4131)CTG>GTG	p.L1377V	ACACA_uc002hnk.2_Missense_Mutation_p.L1299V|ACACA_uc002hnl.2_Missense_Mutation_p.L1319V|ACACA_uc002hnn.2_Missense_Mutation_p.L1377V|ACACA_uc002hno.2_Missense_Mutation_p.L1414V|ACACA_uc010cuy.2_Missense_Mutation_p.L71V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1377					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAAAGCCAGAGCAGGCTCC	0.443		NaN											0	0	0	0.160694	0	14	29				
AFMID	125061	broad.mit.edu	37	17	76201688	76201688	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:76201688G>T	uc002jva.3	+	9	664	c.649G>T	c.(649-651)GAC>TAC	p.D217Y	AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.D217Y	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	217						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCAGGGAGGACGCTCAGAG	0.672		NaN											1	0	4.63292e-17	0.204396	4.90193e-17	19	57				
DNAH17	8632	broad.mit.edu	37	17	76454708	76454708	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:76454708C>G	uc010dhp.1	-	7	1138	c.916G>C	c.(916-918)GAG>CAG	p.E306Q	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGATTTTCTCAGCTGTTGCT	0.522		NaN											0	0	0	0.080422	0	33	86				
C1QTNF1	114897	broad.mit.edu	37	17	77043906	77043906	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:77043906C>T	uc002jwp.2	+	4	922	c.582C>T	c.(580-582)TTC>TTT	p.F194F	C1QTNF1_uc002jwq.2_Silent_p.F112F|C1QTNF1_uc002jwr.3_Silent_p.F204F|C1QTNF1_uc002jws.2_Silent_p.F194F|C1QTNF1_uc002jwt.2_Silent_p.F292F	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	194	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCTCTACTTCTTCAGCCTCA	0.552		NaN											0	0	0	0.139131	0	82	69				
METRNL	284207	broad.mit.edu	37	17	81043019	81043019	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:81043019G>A	uc002kgh.2	+	2	501	c.376G>A	c.(376-378)GAA>AAA	p.E126K	METRNL_uc002kgi.2_Missense_Mutation_p.E44K	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	126						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AAAAACTGGAGAACTGAGACT	0.637		NaN											0	0	0	0.184627	0	4	66				
PTPRM	5797	broad.mit.edu	37	18	8088834	8088834	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:8088834G>C	uc002knn.3	+	11	2344	c.1841G>C	c.(1840-1842)AGA>ACA	p.R614T	PTPRM_uc010dkv.2_Missense_Mutation_p.R614T|PTPRM_uc010wzl.1_Missense_Mutation_p.R401T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	614	Fibronectin type-III 4.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GCCCACAGCAGAGGAGCACCT	0.458		NaN											0	0	0	0.09836	0	38	15				
GNAL	2774	broad.mit.edu	37	18	11868562	11868562	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:11868562G>A	uc010dkz.2	+	10	946	c.700G>A	c.(700-702)GTC>ATC	p.V234I	GNAL_uc002kqc.2_Missense_Mutation_p.V311I|GNAL_uc002kqd.2_Missense_Mutation_p.V234I|GNAL_uc010wzt.1_Missense_Mutation_p.V27I	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	234					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TATCATTTACGTCGCAGCCTG	0.463		NaN											0	0	0	0.124865	0	33	79				
DSG1	1828	broad.mit.edu	37	18	28926024	28926024	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:28926024G>C	uc002kwp.2	+	14	2175	c.1963G>C	c.(1963-1965)GAA>CAA	p.E655Q	DSG1_uc010xbp.1_Missense_Mutation_p.E14Q	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	655	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACAGGATTTGAACTAACAGA	0.368		NaN											0	0	0	0.047766	0	7	28				
KIAA1468	57614	broad.mit.edu	37	18	59925298	59925298	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:59925298G>C	uc002lil.2	+	14	2229	c.2014G>C	c.(2014-2016)GAT>CAT	p.D672H	KIAA1468_uc002lik.1_Missense_Mutation_p.D672H|KIAA1468_uc010xel.1_Missense_Mutation_p.D672H|KIAA1468_uc002lim.2_Missense_Mutation_p.D316H	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	672	HEAT 2.						binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GGGATACATTGATGATCCAGA	0.313		NaN											0	0	0	0.038147	0	5	16				
CDH7	1005	broad.mit.edu	37	18	63511079	63511079	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:63511079C>T	uc002ljz.2	+	7	1338	c.1013C>T	c.(1012-1014)ACG>ATG	p.T338M	CDH7_uc002lka.2_Missense_Mutation_p.T338M|CDH7_uc002lkb.2_Missense_Mutation_p.T338M	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	338	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				ACAAGTTACACGCTACGGATA	0.418		NaN											0	0	0	0.069234	0	11	26				
LMNB2	84823	broad.mit.edu	37	19	2438516	2438516	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:2438516C>T	uc002lvy.2	-	3	442	c.355G>A	c.(355-357)GAG>AAG	p.E119K	LMNB2_uc002lwa.1_Missense_Mutation_p.E139K	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	119	Rod.|Coil 1B.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCGCCCTCCCTCTTCTTG	0.662		NaN											0	0	0	0.083992	0	21	13				
PTPRS	5802	broad.mit.edu	37	19	5214591	5214591	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:5214591C>T	uc002mbv.2	-	29	4709	c.4475G>A	c.(4474-4476)CGG>CAG	p.R1492Q	PTPRS_uc002mbu.1_Missense_Mutation_p.R1061Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1034Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1454Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1049Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1045Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1492	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTCCTCCAGCCGCGTCATCAT	0.632		NaN											0	0	0	0.204396	0	19	55				
PNPLA6	10908	broad.mit.edu	37	19	7625568	7625568	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:7625568G>A	uc010xjq.1	+	31	3959	c.3764G>A	c.(3763-3765)GGA>GAA	p.G1255E	PNPLA6_uc002mgq.1_Missense_Mutation_p.G1207E|PNPLA6_uc010xjp.1_Missense_Mutation_p.G1180E|PNPLA6_uc002mgr.1_Missense_Mutation_p.G1207E|PNPLA6_uc002mgs.2_Missense_Mutation_p.G1245E|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1246	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCGGTGTTTGGAGGCTGGAGC	0.587		NaN											0	0	0	0.153744	0	27	20				
COL5A3	50509	broad.mit.edu	37	19	10073543	10073543	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:10073543G>A	uc002mmq.1	-	65	4889	c.4803C>T	c.(4801-4803)TCC>TCT	p.S1601S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1601	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GCTTTTCCTTGGACCAGGAGG	0.532		NaN											0	0	0	0.09319	0	9	14				
SMARCA4	6597	broad.mit.edu	37	19	11136115	11136115	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:11136115G>C	uc002mqf.3	+	22	3383	c.3099G>C	c.(3097-3099)AAG>AAC	p.K1033N	SMARCA4_uc010dxp.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxo.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqg.1_Missense_Mutation_p.K1033N|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1033N|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxt.1_Missense_Mutation_p.K253N|SMARCA4_uc002mqh.3_Missense_Mutation_p.K156N|SMARCA4_uc002mqi.1_Missense_Mutation_p.K236N	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1033					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGGCACCAAGACCCTGATGA	0.632		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.214465	0	29	118		Valid		
RFX1	5989	broad.mit.edu	37	19	14076445	14076445	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:14076445G>A	uc002mxv.2	-	15	2378	c.2106C>T	c.(2104-2106)CCC>CCT	p.P702P		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	702					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CACTGGGGATGGGCCGCAGCA	0.652		NaN											0	0	0	0.105934	0	12	43				
JAK3	3718	broad.mit.edu	37	19	17948866	17948866	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:17948866T>C	uc002nhn.3	-	12	1676	c.1576A>G	c.(1576-1578)AAC>GAC	p.N526D	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.N526D	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	526	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TGGCCCAGGTTCTCATGCTGA	0.557		2	Mis		acute megakaryocytic leukemia|								0	0	0	0.055883	0	18	44				
HAPLN4	404037	broad.mit.edu	37	19	19369602	19369602	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:19369602G>T	uc002nmb.2	-	4	602	c.547C>A	c.(547-549)CGC>AGC	p.R183S	HAPLN4_uc002nmc.2_Missense_Mutation_p.R183S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	183	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			GCGCACGCGCGCTGCGCCTCC	0.706		NaN											1	0	1.02788e-11	0.160694	1.0806e-11	11	18				
DPY19L3	147991	broad.mit.edu	37	19	32930745	32930745	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:32930745C>G	uc002ntg.2	+	8	960	c.784C>G	c.(784-786)CAA>GAA	p.Q262E	DPY19L3_uc002nth.1_Missense_Mutation_p.Q262E|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	262	Helical; (Potential).					integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					GCAATTTAATCAATTTATGAT	0.393		NaN											0	0	0	0.139131	0	44	48				
APLP1	333	broad.mit.edu	37	19	36370075	36370075	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:36370075C>A	uc002oce.2	+	16	1948	c.1810C>A	c.(1810-1812)CGC>AGC	p.R604S	APLP1_uc010xsz.1_Missense_Mutation_p.R565S|APLP1_uc002ocf.2_Missense_Mutation_p.R605S|APLP1_uc002ocg.2_Missense_Mutation_p.R508S|APLP1_uc010xta.1_Missense_Mutation_p.R598S	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	604	Cytoplasmic (Potential).|Basolateral sorting signal (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGCTCCTGCGCAGGAAGAA	0.657		NaN											1	0	1.85244e-09	0.083992	1.91672e-09	23	107				
MEGF8	1954	broad.mit.edu	37	19	42880156	42880156	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:42880156C>T	uc002otl.3	+	41	8201	c.7566C>T	c.(7564-7566)GTC>GTT	p.V2522V	MEGF8_uc002otm.3_Silent_p.V2130V|MEGF8_uc002otn.3_Silent_p.V183V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2589	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGCTGGTGGTCCGCGGCGTGC	0.692		NaN											0	0	0	0.139131	0	87	149				
RSPH6A	81492	broad.mit.edu	37	19	46308019	46308019	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:46308019C>G	uc002pdm.2	-	3	1287	c.1144G>C	c.(1144-1146)GAG>CAG	p.E382Q	RSPH6A_uc002pdl.2_Missense_Mutation_p.E118Q	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	382	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						tccATGACCTCGCCACCTTCC	0.358		NaN											0	0	0	0.105934	0	12	20				
LIG1	3978	broad.mit.edu	37	19	48634393	48634393	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:48634393G>A	uc002pia.1	-	19	1881	c.1761C>T	c.(1759-1761)TTC>TTT	p.F587F	LIG1_uc010xze.1_Silent_p.F280F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.F519F|LIG1_uc010xzg.1_Silent_p.F556F	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	587					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATTCCTGCTGAAGATCTTCA	0.577		NaN						NER					0	0	0	0.047766	0	7	117				
DBP	1628	broad.mit.edu	37	19	49134232	49134232	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:49134232C>G	uc002pjx.3	-	4	1228	c.840G>C	c.(838-840)GAG>GAC	p.E280D	DBP_uc002pjy.2_3'UTR	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	280					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		ATATCTGGTTCTCCTTGAGCC	0.652		NaN											0	0	0	0.163468	0	24	33				
RASIP1	54922	broad.mit.edu	37	19	49224075	49224075	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:49224075G>C	uc002pki.2	-	12	3069	c.2872C>G	c.(2872-2874)CCC>GCC	p.P958A	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.P219A	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	958					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTGGCCACGGGAGGCCCATGG	0.602		NaN											0	0	0	0.139131	0	87	150				
AP2A1	160	broad.mit.edu	37	19	50302947	50302947	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:50302947G>A	uc002ppn.2	+	10	1407	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.R399Q|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	399					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGTGTGACCGGAGCAATGCC	0.592		NaN											0	0	0	0.139131	0	83	136				
ZNF761	388561	broad.mit.edu	37	19	53959831	53959831	+	Silent	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:53959831T>C	uc010eqp.2	+	7	2528	c.2070T>C	c.(2068-2070)TAT>TAC	p.Y690Y	ZNF761_uc010ydy.1_Silent_p.Y636Y|ZNF761_uc002qbt.1_Silent_p.Y636Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	690	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		AGAAACCTTATAAGTGTAATG	0.393		NaN											0	0	0	0.184627	0	5	75				
TTYH1	57348	broad.mit.edu	37	19	54932494	54932494	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:54932494G>A	uc002qfq.2	+	3	441	c.349G>A	c.(349-351)GAT>AAT	p.D117N	TTYH1_uc010yey.1_Missense_Mutation_p.D166N|TTYH1_uc002qfr.2_Missense_Mutation_p.D117N|TTYH1_uc002qft.2_Missense_Mutation_p.D117N|TTYH1_uc002qfu.1_Missense_Mutation_p.D32N	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	117	Extracellular (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGAGACCAGTGATGGGGTGTC	0.637		NaN											0	0	0	0.124865	0	36	164				
ZNF550	162972	broad.mit.edu	37	19	58058953	58058953	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:58058953C>T	uc002qpe.1	-	2	536	c.536G>A	c.(535-537)CGA>CAA	p.R179Q	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	220	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCTGATGTCGAACGAGATA	0.483		NaN											0	0	0	0.139131	0	42	65				
ZSCAN22	342945	broad.mit.edu	37	19	58846394	58846394	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:58846394C>G	uc002qsc.2	+	2	373	c.226C>G	c.(226-228)CAG>GAG	p.Q76E	ZSCAN22_uc010yhz.1_Missense_Mutation_p.Q76E	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTGTGCTGTCAGTGGCTGCA	0.657		NaN											0	0	0	0.09319	0	11	128				
LPIN1	23175	broad.mit.edu	37	2	11964910	11964910	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:11964910C>T	uc010yjn.1	+	21	2940	c.2666C>T	c.(2665-2667)TCA>TTA	p.S889L	LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	889					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CATTCTGCCTCAGCGTAAAAT	0.517		NaN											0	0	0	0.146539	0	12	35				
TRIB2	28951	broad.mit.edu	37	2	12880633	12880633	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:12880633G>A	uc002rbv.3	+	3	2181	c.745G>A	c.(745-747)GTG>ATG	p.V249M	TRIB2_uc010yjp.1_Missense_Mutation_p.V113M	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	249	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCATGTTGGTGGGGCGGTA	0.582		NaN											0	0	0	0.080422	0	32	22				
APOB	338	broad.mit.edu	37	2	21224807	21224807	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:21224807C>G	uc002red.2	-	29	13615	c.13487G>C	c.(13486-13488)AGA>ACA	p.R4496T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4496					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTTTATATCTAAACTGCTG	0.363		NaN											0	0	0	0.080935	0	11	38				
C2orf16	84226	broad.mit.edu	37	2	27800241	27800241	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:27800241G>A	uc002rkz.3	+	1	853	c.802G>A	c.(802-804)GAA>AAA	p.E268K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	268										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GATTACTCCGGAACTCAAGCA	0.463		NaN											0	0	0	0.193644	0	27	37				
PLEKHH2	130271	broad.mit.edu	37	2	43991401	43991401	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:43991401T>C	uc010yny.1	+	29	4276	c.4193T>C	c.(4192-4194)ATG>ACG	p.M1398T		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1398	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGAGTCTAATGACCTTTGGA	0.328		NaN											0	0	0	0.189662	0	16	19				
RHOQ	23433	broad.mit.edu	37	2	46770291	46770291	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:46770291G>A	uc002rva.2	+	1	425	c.106G>A	c.(106-108)GAG>AAG	p.E36K	ATP6V1E2_uc002ruz.2_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10 precursor	36					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCCTTCCCGGAGGAGTACGT	0.652		NaN											0	0	0	0.139131	0	51	172				
NRXN1	9378	broad.mit.edu	37	2	50733744	50733744	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:50733744C>G	uc010fbq.2	-	13	3983	c.2506G>C	c.(2506-2508)GAG>CAG	p.E836Q	NRXN1_uc002rxb.3_Missense_Mutation_p.E468Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E796Q|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAAGAGTCTCGGGACCTTTG	0.378		NaN											0	0	0	0.069234	0	9	19				
KIAA1841	84542	broad.mit.edu	37	2	61333734	61333734	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:61333734A>G	uc002saw.3	+	14	1851	c.1548A>G	c.(1546-1548)ATA>ATG	p.I516M	KIAA1841_uc002sax.3_Missense_Mutation_p.I370M|KIAA1841_uc002say.2_Missense_Mutation_p.I516M	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	516											0			Epithelial(17;0.193)			AAAAGGGTATAGAATGTGATG	0.348		NaN											0	0	0	0.0918	0	18	45				
ATP6V1B1	525	broad.mit.edu	37	2	71187068	71187068	+	Splice_Site	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:71187068G>A	uc002shj.2	+	6	533	c.446_splice	c.e6-1	p.G149_splice	ATP6V1B1_uc002shi.1_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdv.2_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdw.2_Splice_Site|ATP6V1B1_uc010fdx.2_Splice_Site_p.G107_splice	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1						ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CCCTCTCCCAGGCCAGCCCAT	0.547		NaN											0	0	0	0.092188	0	30	103				
CNTNAP5	129684	broad.mit.edu	37	2	125261952	125261952	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:125261952C>T	uc002tno.2	+	8	1507	c.1143C>T	c.(1141-1143)CCC>CCT	p.P381P	CNTNAP5_uc010flu.2_Silent_p.P382P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	381	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTGCTGCCCGGCACCCCCC	0.512		NaN											0	0	0	0.139131	0	42	25				
THSD7B	80731	broad.mit.edu	37	2	137928489	137928489	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:137928489C>T	uc002tva.1	+	6	1611	c.1611C>T	c.(1609-1611)GCC>GCT	p.A537A	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.A427A	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCTGAAGGCCGTCTGCCAGA	0.483		NaN											0	0	0	0.160694	0	11	12				
LYPD6B	130576	broad.mit.edu	37	2	150071149	150071149	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:150071149G>A	uc002twv.1	+	7	950	c.549G>A	c.(547-549)CAG>CAA	p.Q183Q	LYPD6B_uc002tww.1_Silent_p.Q145Q|LYPD6B_uc002twx.1_Silent_p.Q145Q	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	159						anchored to membrane|plasma membrane					0						TGCACGCTCAGAGAACATCTG	0.493		NaN											0	0	0	0.139131	0	63	148				
TTN	7273	broad.mit.edu	37	2	179610636	179610636	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:179610636C>G	uc002unb.2	-	46	16715	c.16491G>C	c.(16489-16491)AAG>AAC	p.K5497N	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGTTGCTCTTTAAGACCA	0.408		NaN											0	0	0	0.189662	0	15	44				
FAM171B	165215	broad.mit.edu	37	2	187627410	187627410	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:187627410G>A	uc002ups.2	+	8	2453	c.2341G>A	c.(2341-2343)GGA>AGA	p.G781R	FAM171B_uc002upr.1_Missense_Mutation_p.G748R|FAM171B_uc002upt.2_Missense_Mutation_p.G250R	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	781	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AGAGTCGCCAGGAAGGAAAAG	0.502		NaN											0	0	0	0.150653	0	3	18				
ALS2CR11	151254	broad.mit.edu	37	2	202400897	202400897	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:202400897C>T	uc002uye.2	-	13	1401	c.1353G>A	c.(1351-1353)CAG>CAA	p.Q451Q	ALS2CR11_uc002uyf.2_Silent_p.Q451Q|ALS2CR11_uc010fti.2_Intron	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	451										large_intestine(1)|ovary(1)|skin(1)	3						TTATTGTTTCCTGGTTAGAAA	0.373		NaN											0	0	0	0.047766	0	8	55				
INO80D	54891	broad.mit.edu	37	2	206882469	206882469	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:206882469A>C	uc002vaz.3	-	8	1882	c.1477T>G	c.(1477-1479)TGC>GGC	p.C493G		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	493					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGCACAGAGCACTGCTGTCCA	0.373		NaN											0	0	0	0.069234	0	9	11				
TNS1	7145	broad.mit.edu	37	2	218700908	218700908	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:218700908C>T	uc002vgt.2	-	18	3057	c.2659G>A	c.(2659-2661)GCA>ACA	p.A887T	TNS1_uc002vgr.2_Missense_Mutation_p.A887T|TNS1_uc002vgs.2_Missense_Mutation_p.A887T|TNS1_uc010zjv.1_Missense_Mutation_p.A887T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	887						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGGCTCTGCAGGCTGCTTC	0.582		NaN											0	0	0	0.047766	0	6	51				
SH3BP4	23677	broad.mit.edu	37	2	235943684	235943684	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:235943684G>A	uc002vvp.2	+	3	431	c.38G>A	c.(37-39)GGC>GAC	p.G13D	SH3BP4_uc010fym.2_Missense_Mutation_p.G13D|SH3BP4_uc002vvq.2_Missense_Mutation_p.G13D	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	13					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AACTCCAATGGCCTCCCTCGC	0.552		NaN											0	0	0	0.021553	0	5	30				
SFRS6	6431	broad.mit.edu	37	20	42088479	42088479	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:42088479G>C	uc010zwg.1	+	3	495	c.325G>C	c.(325-327)GAA>CAA	p.E109Q	SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.E109Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	109					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTTCGTACAGAATACAGGCT	0.398		NaN											0	0	0	0.139131	0	45	66				
C20orf111	51526	broad.mit.edu	37	20	42825950	42825950	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:42825950C>T	uc002xlk.2	-	4	758	c.621G>A	c.(619-621)AAG>AAA	p.K207K		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	207											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CATGCCATCTCTTACACTGGC	0.488		NaN											0	0	0	0.153744	0	23	60				
NFATC2	4773	broad.mit.edu	37	20	50139887	50139887	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:50139887G>C	uc002xwd.2	-	2	1113	c.893C>G	c.(892-894)GCT>GGT	p.A298G	NFATC2_uc002xwc.2_Missense_Mutation_p.A298G|NFATC2_uc010zyv.1_Missense_Mutation_p.A79G|NFATC2_uc010zyw.1_Missense_Mutation_p.A79G|NFATC2_uc010zyx.1_Missense_Mutation_p.A278G|NFATC2_uc010zyy.1_Missense_Mutation_p.A79G|NFATC2_uc010zyz.1_Missense_Mutation_p.A79G|NFATC2_uc002xwe.2_Missense_Mutation_p.A278G	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	298					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GGCAGAGCCAGCCACAGGGGG	0.706		NaN											0	0	0	0.132662	0	13	20				
MYT1	4661	broad.mit.edu	37	20	62871220	62871220	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:62871220C>T	uc002yii.2	+	22	3565	c.3201C>T	c.(3199-3201)CTC>CTT	p.L1067L	MYT1_uc002yij.2_Silent_p.L726L|MYT1_uc002yik.2_Silent_p.L33L	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1067					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAGGCCCTCATCCAAAGTC	0.592		NaN											0	0	0	0.139131	0	40	260				
USP25	29761	broad.mit.edu	37	21	17250767	17250767	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:17250767C>T	uc002yjy.1	+	24	3358	c.3141C>T	c.(3139-3141)CTC>CTT	p.L1047L	USP25_uc011aby.1_Silent_p.L1117L|USP25_uc002yjz.1_Silent_p.L1079L|USP25_uc010gla.1_Silent_p.L442L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1047					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGTTGTCCCTCAGTCGAACTC	0.433		NaN											0	0	0	0.139131	0	32	35				
TMPRSS3	64699	broad.mit.edu	37	21	43802184	43802184	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:43802184G>C	uc002zbb.2	-	9	1143	c.942C>G	c.(940-942)CTC>CTG	p.L314L	TMPRSS3_uc002zay.2_Silent_p.L72L|TMPRSS3_uc002zaz.2_Silent_p.L187L|TMPRSS3_uc002zba.2_Silent_p.L187L|TMPRSS3_uc002zbc.2_Silent_p.L314L|TMPRSS3_uc002zbd.2_Silent_p.L314L	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	314	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						CATTGAACGTGAGTGGCCCGG	0.373		NaN											0	0	0	0.139131	0	36	44				
PWP2	5822	broad.mit.edu	37	21	45550606	45550606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:45550606C>G	uc002zeb.2	+	21	2803	c.2713C>G	c.(2713-2715)CTG>GTG	p.L905V	C21orf33_uc002zec.3_5'Flank|C21orf33_uc002zed.3_5'Flank	NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	905						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGCATCTGCTTGGAGG	0.582		NaN											0	0	0	0.139131	0	53	60				
C21orf70	85395	broad.mit.edu	37	21	46363637	46363637	+	Silent	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:46363637C>A	uc002zgl.2	+	2	186	c.168C>A	c.(166-168)ACC>ACA	p.T56T	C21orf70_uc002zgm.2_Silent_p.T56T	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	56											0				Colorectal(79;0.248)		TTGCCAGGACCAAGATAGACC	0.552		NaN											1	0	1.04352e-10	0.193644	1.09004e-10	29	69				
PCNT	5116	broad.mit.edu	37	21	47786794	47786794	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:47786794G>C	uc002zji.3	+	15	3012	c.2905G>C	c.(2905-2907)GAT>CAT	p.D969H	PCNT_uc002zjj.2_Missense_Mutation_p.D851H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	969					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTCCAGCCTTGATTCTTTGGA	0.562		NaN											0	0	0	0.134883	0	26	82				
CHEK2	11200	broad.mit.edu	37	22	29106036	29106036	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:29106036G>A	uc003adu.1	-	7	876	c.804C>T	c.(802-804)CTC>CTT	p.L268L	CHEK2_uc003ads.1_Silent_p.L47L|CHEK2_uc010gvh.1_Silent_p.L177L|CHEK2_uc010gvi.1_Silent_p.L268L|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.L311L|CHEK2_uc003adv.1_Silent_p.L268L|CHEK2_uc003adw.1_Silent_p.L268L|CHEK2_uc003adx.1_Silent_p.L47L|CHEK2_uc003ady.1_Silent_p.L268L|CHEK2_uc003adz.1_Silent_p.L72L	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	268	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TTTCAACATTGAGAGCTGGGT	0.264		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.058154	0	7	5				
EIF3L	51386	broad.mit.edu	37	22	38266268	38266268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:38266268G>A	uc003auf.2	+	8	752	c.665G>A	c.(664-666)TGG>TAG	p.W222*	EIF3L_uc003aue.1_Nonsense_Mutation_p.W222*|EIF3L_uc011ann.1_Nonsense_Mutation_p.W174*|EIF3L_uc003aug.2_Nonsense_Mutation_p.W114*|EIF3L_uc003auh.2_5'UTR	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	222						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						CCCAAAATCTGGAATGTTCAT	0.458		NaN											0	0	0	0.175082	0	16	25				
EP300	2033	broad.mit.edu	37	22	41572404	41572404	+	Nonsense_Mutation	SNP	C	C	T	rs139310551		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41572404C>T	uc003azl.3	+	30	5328	c.4933C>T	c.(4933-4935)CGA>TGA	p.R1645*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1645	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R1645R(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTCTTCACTCCGAAGAGCCCA	0.557		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.080422	0	34	13		Valid		
EP300	2033	broad.mit.edu	37	22	41572932	41572932	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41572932C>G	uc003azl.3	+	31	5612	c.5217C>G	c.(5215-5217)ATC>ATG	p.I1739M		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1739	Binding region for E1A adenovirus.|TAZ-type 2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGCGCTGCATCCAGTCTCTGG	0.562		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.124865	0	37	16		Valid		
EP300	2033	broad.mit.edu	37	22	41573079	41573079	+	Silent	SNP	C	C	G	rs143551315	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573079C>G	uc003azl.3	+	31	5759	c.5364C>G	c.(5362-5364)CTC>CTG	p.L1788L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1788	Binding region for E1A adenovirus.|TAZ-type 2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TCATTGCCCTCTGCTGCTACC	0.572		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.139131	0	54	23				
EP300	2033	broad.mit.edu	37	22	41573719	41573719	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573719C>G	uc003azl.3	+	31	6399	c.6004C>G	c.(6004-6006)CAG>GAG	p.Q2002E		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2002					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGGATTGCCTCAGCCCCAGCA	0.602		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.131918	0	37	17		Valid		
EP300	2033	broad.mit.edu	37	22	41573838	41573838	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573838C>G	uc003azl.3	+	31	6518	c.6123C>G	c.(6121-6123)CTC>CTG	p.L2041L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2041	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TCAGCCCACTCAAACCAGGCA	0.547		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.139131	0	48	25				
EP300	2033	broad.mit.edu	37	22	41573889	41573889	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573889C>G	uc003azl.3	+	31	6569	c.6174C>G	c.(6172-6174)CTC>CTG	p.L2058L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2058	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGCGGACTCTCAGGTCTCCCA	0.552		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.139131	0	52	24				
MEI1	150365	broad.mit.edu	37	22	42112115	42112115	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:42112115T>C	uc003baz.1	+	5	519	c.494T>C	c.(493-495)ATC>ACC	p.I165T	MEI1_uc003bay.3_Missense_Mutation_p.I165T|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	165							binding			central_nervous_system(1)|skin(1)	2						GTGGATGCCATCCCTGCTCTG	0.517		NaN											0	0	0	0.160694	0	14	32				
ITPR1	3708	broad.mit.edu	37	3	4711438	4711438	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:4711438G>A	uc003bqa.2	+	19	2335	c.1987G>A	c.(1987-1989)GAC>AAC	p.D663N	ITPR1_uc010hca.1_Missense_Mutation_p.D648N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D648N	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	663	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CACCAACGCTGACATCCTGAT	0.468		NaN											0	0	0	0.02938	0	6	13				
ITPR1	3708	broad.mit.edu	37	3	4711446	4711446	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:4711446G>A	uc003bqa.2	+	19	2343	c.1995G>A	c.(1993-1995)CTG>CTA	p.L665L	ITPR1_uc010hca.1_Silent_p.L650L|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.L650L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	665	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGACATCCTGATTGAGACCA	0.463		NaN											0	0	0	0.184627	0	5	12				
ALAS1	211	broad.mit.edu	37	3	52245397	52245397	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:52245397C>G	uc003dcy.1	+	10	1766	c.1429C>G	c.(1429-1431)CTG>GTG	p.L477V	ALAS1_uc003dcz.1_Missense_Mutation_p.L477V|ALAS1_uc011bec.1_Missense_Mutation_p.L494V	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	477					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACCACCTCTCTGCCACCCAT	0.592		NaN											0	0	0	0.055883	0	20	9				
FAM19A4	151647	broad.mit.edu	37	3	68802156	68802156	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:68802156G>C	uc003dnh.1	-	4	587	c.144C>G	c.(142-144)ATC>ATG	p.I48M	FAM19A4_uc003dni.1_Missense_Mutation_p.I48M	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	48						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCCCTTGCTTGATTTGGTGGT	0.493		NaN											0	0	0	0.144211	0	23	10				
CADM2	253559	broad.mit.edu	37	3	86010686	86010686	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:86010686G>C	uc003dqj.2	+	7	1458	c.832G>C	c.(832-834)GGT>CGT	p.G278R	CADM2_uc003dqk.2_Missense_Mutation_p.G287R|CADM2_uc003dql.2_Missense_Mutation_p.G280R	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	278	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGTTGTGAGTGGTAGGGAGCT	0.433		NaN											0	0	0	0.163468	0	26	83				
NSUN3	63899	broad.mit.edu	37	3	93802971	93802971	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:93802971C>G	uc003drl.1	+	3	259	c.143C>G	c.(142-144)TCA>TGA	p.S48*		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	48							methyltransferase activity			skin(1)	1						ACATCTCCATCATGCTGGCAA	0.338		NaN											0	0	0	0.099896	0	23	24				
BBX	56987	broad.mit.edu	37	3	107520009	107520009	+	Silent	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:107520009A>G	uc010hpr.2	+	17	2946	c.2619A>G	c.(2617-2619)AAA>AAG	p.K873K	BBX_uc003dwk.3_Silent_p.K843K|BBX_uc003dwl.3_Missense_Mutation_p.N537S|BBX_uc003dwm.3_Silent_p.K843K|BBX_uc003dwo.3_Missense_Mutation_p.N190S	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCAATGACAAATGCTCACACA	0.512		NaN											0	0	0	0.139131	0	43	32				
RPN1	6184	broad.mit.edu	37	3	128356705	128356705	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:128356705G>A	uc003ekr.1	-	3	646	c.570C>T	c.(568-570)AAC>AAT	p.N190N	RPN1_uc011bkq.1_Silent_p.N18N	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	190	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		AGCGCGTGGGGTTCCCCAGCT	0.532		NaN	T	EVI1	AML								0	0	0	0.108266	0	23	83				
RNF7	9616	broad.mit.edu	37	3	141462354	141462354	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:141462354C>T	uc003eud.2	+	2	312	c.179C>T	c.(178-180)GCC>GTC	p.A60V	RNF7_uc003euc.2_Missense_Mutation_p.P58S|RNF7_uc003eue.2_RNA	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN	ring finger protein 7 isoform 1	60					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding				0						CTTTTAGATGCCTGTCTTAGA	0.373		NaN											0	0	0	0.204396	0	16	35				
MAP3K13	9175	broad.mit.edu	37	3	185155308	185155308	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:185155308C>T	uc010hyf.2	+	4	815	c.549C>T	c.(547-549)TTC>TTT	p.F183F	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Silent_p.F39F|MAP3K13_uc003fpi.2_Silent_p.F183F|MAP3K13_uc010hyg.2_Intron	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	183	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCGGTCTTCTTGGGCAAGT	0.498		NaN											0	0	0	0.139131	0	49	89				
DGKG	1608	broad.mit.edu	37	3	186006603	186006603	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:186006603G>A	uc003fqa.2	-	6	977	c.440C>T	c.(439-441)CCC>CTC	p.P147L	DGKG_uc003fqb.2_Missense_Mutation_p.P147L|DGKG_uc003fqc.2_Missense_Mutation_p.P147L|DGKG_uc011brx.1_Missense_Mutation_p.P147L	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	147					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCGAGGGACGGGGGGTTCCAG	0.547		NaN											0	0	0	0.139131	0	100	310				
OPA1	4976	broad.mit.edu	37	3	193384092	193384092	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:193384092G>C	uc003ftm.2	+	26	2855	c.2621G>C	c.(2620-2622)TGC>TCC	p.C874S	OPA1_uc003ftg.2_Missense_Mutation_p.C929S|OPA1_uc003fth.2_Missense_Mutation_p.C893S|OPA1_uc003fti.2_Missense_Mutation_p.C911S|OPA1_uc003ftj.2_Missense_Mutation_p.C892S|OPA1_uc003ftk.2_Missense_Mutation_p.C875S|OPA1_uc003ftl.2_Missense_Mutation_p.C856S|OPA1_uc003ftn.2_Missense_Mutation_p.C838S	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	874	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAGTTGGAATGCAATGATGTG	0.358		NaN											0	0	0	0.0918	0	21	56				
SENP5	205564	broad.mit.edu	37	3	196613169	196613169	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:196613169C>T	uc003fwz.3	+	2	1366	c.1117C>T	c.(1117-1119)CAT>TAT	p.H373Y	SENP5_uc011bty.1_Missense_Mutation_p.H373Y	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	373					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGCTGATTCATGACATCCC	0.443		NaN											0	0	0	0.058154	0	6	38				
DLG1	1739	broad.mit.edu	37	3	196792639	196792639	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:196792639C>G	uc003fxo.3	-	22	2363	c.2173G>C	c.(2173-2175)GAC>CAC	p.D725H	DLG1_uc011bub.1_Missense_Mutation_p.D621H|DLG1_uc011buc.1_Missense_Mutation_p.D609H|DLG1_uc011bud.1_Missense_Mutation_p.D408H|DLG1_uc003fxn.3_Missense_Mutation_p.D747H|DLG1_uc011bue.1_Missense_Mutation_p.D713H|DLG1_uc010ial.2_Missense_Mutation_p.D725H	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	725	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTATCCTGTCTTTCATAGGT	0.299		NaN											0	0	0	0.175082	0	12	42				
ZNF721	170960	broad.mit.edu	37	4	436766	436766	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:436766C>A	uc003gag.2	-	3	2181	c.1490G>T	c.(1489-1491)GGC>GTC	p.G497V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G529V|ZNF721_uc010ibe.2_Missense_Mutation_p.G485V	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	497						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GGGTTTCTCGCCAGTATGAAT	0.383		NaN											1	0	9.31168e-06	0.105934	9.54447e-06	11	41				
NMU	10874	broad.mit.edu	37	4	56475309	56475309	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:56475309A>G	uc003hbc.2	-	4	363	c.257T>C	c.(256-258)ATG>ACG	p.M86T	NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Missense_Mutation_p.M1T|NMU_uc010igx.1_RNA	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	86					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TAGCATTCCCATAATCATAAA	0.358		NaN											0	0	0	0.139131	0	41	24				
EXOC1	55763	broad.mit.edu	37	4	56734667	56734667	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:56734667G>C	uc003hbe.1	+	5	739	c.581G>C	c.(580-582)AGA>ACA	p.R194T	EXOC1_uc003hbf.1_Missense_Mutation_p.R194T|EXOC1_uc003hbg.1_Missense_Mutation_p.R194T	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	194					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					AAATTGTCCAGAGAGCTGCAG	0.388		NaN											0	0	0	0.080935	0	9	49				
AFF1	4299	broad.mit.edu	37	4	88052994	88052994	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:88052994G>C	uc003hqj.3	+	17	3537	c.3130G>C	c.(3130-3132)GAG>CAG	p.E1044Q	AFF1_uc011ccz.1_Missense_Mutation_p.E1051Q|AFF1_uc003hqk.3_Missense_Mutation_p.E1044Q|AFF1_uc011cda.1_Missense_Mutation_p.E682Q	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1044						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAACACAAGAGAAAATATT	0.308		NaN											0	0	0	0.150653	0	3	14				
NDST3	9348	broad.mit.edu	37	4	119158371	119158371	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:119158371A>G	uc003ibx.2	+	10	2517	c.2114A>G	c.(2113-2115)TAC>TGC	p.Y705C	NDST3_uc011cgf.1_3'UTR	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	705	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TACTCCTGGTACCAGGTAAGG	0.443		NaN											0	0	0	0.09319	0	8	35				
SPATA5	166378	broad.mit.edu	37	4	124177235	124177235	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:124177235G>A	uc003iez.3	+	15	2478	c.2405G>A	c.(2404-2406)AGA>AAA	p.R802K		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	802					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GCAGCAACAAGAAGGGAAATA	0.438		NaN											0	0	0	0.139131	0	42	15				
NAA15	80155	broad.mit.edu	37	4	140299981	140299981	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:140299981G>A	uc003ihu.1	+	17	2384	c.2128G>A	c.(2128-2130)GAG>AAG	p.E710K		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	710					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						CTGGCTTCATGAGTGTATGAT	0.328		NaN											0	0	0	0.108266	0	20	14				
ADAM29	11086	broad.mit.edu	37	4	175896737	175896737	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:175896737C>A	uc003iuc.2	+	5	731	c.61C>A	c.(61-63)CAG>AAG	p.Q21K	ADAM29_uc003iud.2_Missense_Mutation_p.Q21K|ADAM29_uc010irr.2_Missense_Mutation_p.Q21K|ADAM29_uc011cki.1_Missense_Mutation_p.Q21K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	21					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGACACATCCAGGATGAGCA	0.507		NaN											1	0	1.96895e-08	0.076483	2.03086e-08	20	75				
ODZ3	55714	broad.mit.edu	37	4	183245337	183245337	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:183245337C>T	uc003ivd.1	+	1	201	c.164C>T	c.(163-165)TCG>TTG	p.S55L	ODZ3_uc010irv.1_Missense_Mutation_p.S55L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	55	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CATGATTCCTCGCGGCTGCTT	0.483		NaN											0	0	0	0.069288	0	20	57				
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:9190395G>T	uc003jek.2	-	11	1969	c.1257C>A	c.(1255-1257)ATC>ATA	p.I419I		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	419	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCAAATAGATGATGTGGACGA	0.498		NaN											1	0	0.000442599	0.058154	0.000446685	8	34				
NUP155	9631	broad.mit.edu	37	5	37292081	37292081	+	Missense_Mutation	SNP	G	G	C	rs140076285	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:37292081G>C	uc003jku.1	-	35	4215	c.4097C>G	c.(4096-4098)TCT>TGT	p.S1366C	NUP155_uc003jkt.1_Missense_Mutation_p.S1307C|NUP155_uc010iuz.1_Missense_Mutation_p.S1302C	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1366					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGAGCTCATAGACTGGAGCTC	0.363		NaN											0	0	0	0.055883	0	18	47				
MAP1B	4131	broad.mit.edu	37	5	71494257	71494257	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:71494257C>G	uc003kbw.3	+	5	5316	c.5075C>G	c.(5074-5076)TCT>TGT	p.S1692C	MAP1B_uc010iyw.1_Missense_Mutation_p.S1709C|MAP1B_uc010iyx.1_Missense_Mutation_p.S1566C|MAP1B_uc010iyy.1_Missense_Mutation_p.S1566C	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1692						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACAGTCCTTCTGACATGCAG	0.488		NaN											0	0	0	0.183431	0	33	16				
TNPO1	3842	broad.mit.edu	37	5	72189254	72189254	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:72189254G>A	uc003kck.3	+	17	2094	c.1947G>A	c.(1945-1947)ATG>ATA	p.M649I	TNPO1_uc011csj.1_Missense_Mutation_p.M599I|TNPO1_uc003kch.2_Missense_Mutation_p.M641I|TNPO1_uc003kci.3_Missense_Mutation_p.M641I|TNPO1_uc003kcg.3_Missense_Mutation_p.M641I	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	649					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGATTTTATGATAGTGGCTC	0.378		NaN											0	0	0	0.184627	0	4	25				
CMYA5	202333	broad.mit.edu	37	5	79026793	79026793	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:79026793G>A	uc003kgc.2	+	2	2277	c.2205G>A	c.(2203-2205)GAG>GAA	p.E735E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	735						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATCAGAAGAGAAGGAAGACA	0.463		NaN											0	0	0	0.175082	0	13	49				
GPR98	84059	broad.mit.edu	37	5	90078972	90078972	+	Silent	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:90078972A>G	uc003kju.2	+	66	13359	c.13263A>G	c.(13261-13263)CCA>CCG	p.P4421P	GPR98_uc003kjt.2_Silent_p.P2127P|GPR98_uc003kjw.2_Silent_p.P82P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4421	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATGATCCCAGTGGTGAGGC	0.448		NaN											0	0	0	0.139131	0	43	168				
CAST	831	broad.mit.edu	37	5	96090429	96090429	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:96090429G>A	uc003klz.1	+	20	1607	c.1445G>A	c.(1444-1446)AGA>AAA	p.R482K	CAST_uc003klt.2_Missense_Mutation_p.R469K|CAST_uc003klu.2_Missense_Mutation_p.R565K|CAST_uc003klv.2_Missense_Mutation_p.R543K|CAST_uc003klw.2_Missense_Mutation_p.R546K|CAST_uc003klx.2_Missense_Mutation_p.R524K|CAST_uc003kly.2_Missense_Mutation_p.R530K|CAST_uc011cuo.1_Missense_Mutation_p.R528K|CAST_uc011cuq.1_Missense_Mutation_p.R330K|CAST_uc011cur.1_Missense_Mutation_p.R468K|CAST_uc011cus.1_Missense_Mutation_p.R469K|CAST_uc003kma.1_Missense_Mutation_p.R441K|CAST_uc011cut.1_Missense_Mutation_p.R410K|CAST_uc003kmb.2_Missense_Mutation_p.R428K|CAST_uc003kmc.2_Missense_Mutation_p.R482K|CAST_uc003kmd.2_Missense_Mutation_p.R460K|CAST_uc003kme.2_Missense_Mutation_p.R441K|CAST_uc003kmf.2_Missense_Mutation_p.R447K|CAST_uc003kmh.2_Missense_Mutation_p.R197K|CAST_uc010jbj.2_Missense_Mutation_p.R197K|CAST_uc010jbk.2_Missense_Mutation_p.R197K|CAST_uc010jbl.1_Missense_Mutation_p.R205K|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.R205K|CAST_uc003kmk.2_5'Flank	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	482	Inhibitory domain 3.						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCTGATTATAGATTAGAAGAG	0.348		NaN											0	0	0	0.047766	0	7	30				
PCDHB1	29930	broad.mit.edu	37	5	140431442	140431442	+	Silent	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140431442T>C	uc003lik.1	+	1	464	c.387T>C	c.(385-387)AAT>AAC	p.N129N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	129	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAATGCCCCAGTTT	0.542		NaN											0	0	0	0.09319	0	11	15				
PCDHGA10	56106	broad.mit.edu	37	5	140794089	140794089	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140794089C>T	uc003lkl.1	+	1	1347	c.1347C>T	c.(1345-1347)ATC>ATT	p.I449I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.I449I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	449	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGATATCAATGACAACC	0.498		NaN											0	0	0	0.163468	0	27	113				
PCDHGB7	56099	broad.mit.edu	37	5	140798381	140798381	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140798381A>T	uc003lkn.1	+	1	1100	c.955A>T	c.(955-957)ATA>TTA	p.I319L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.I319L|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	319	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGATAAACATAGAAGCAAA	0.398		NaN											0	0	0	0.02938	0	7	1				
PCDH1	5097	broad.mit.edu	37	5	141233836	141233836	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:141233836C>T	uc003llp.2	-	5	3602	c.3485G>A	c.(3484-3486)GGA>GAA	p.G1162E		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCTGCCCTCCTCGGTCCTG	0.677		NaN											0	0	0	0.02938	0	6	12				
PCDH1	5097	broad.mit.edu	37	5	141244913	141244913	+	Missense_Mutation	SNP	C	C	T	rs149443924		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:141244913C>T	uc003llq.2	-	3	1100	c.983G>A	c.(982-984)CGT>CAT	p.R328H	PCDH1_uc003llp.2_Missense_Mutation_p.R328H|PCDH1_uc011dbf.1_Missense_Mutation_p.R306H	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	328	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGAAGAAGACGCCTCACAAC	0.537		NaN											0	0	0	0.139131	0	44	44				
GPR151	134391	broad.mit.edu	37	5	145894746	145894746	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:145894746C>T	uc003lod.1	-	1	931	c.931G>A	c.(931-933)GAA>AAA	p.E311K		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAACTCTTCCGACATCACA	0.478		NaN											0	0	0	0.02938	0	7	8				
SLU7	10569	broad.mit.edu	37	5	159831861	159831861	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:159831861C>T	uc003lyg.2	-	14	1574	c.1419G>A	c.(1417-1419)GAG>GAA	p.E473E		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	473					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCAGTTATCTCATTTATAA	0.348		NaN											0	0	0	0.11911	0	11	11				
MRS2	57380	broad.mit.edu	37	6	24416692	24416692	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:24416692G>C	uc003neb.2	+	7	909	c.787G>C	c.(787-789)GAG>CAG	p.E263Q	MRS2_uc003nea.2_Missense_Mutation_p.E263Q|MRS2_uc011djl.1_Missense_Mutation_p.E266Q|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.E213Q|MRS2_uc003nec.2_Missense_Mutation_p.E140Q	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	263	Mitochondrial matrix (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						GGATGAGGAAGAGTTGCTAGA	0.294		NaN											0	0	0	0.139131	0	41	7				
SLC26A8	116369	broad.mit.edu	37	6	35928812	35928812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:35928812G>C	uc003olm.2	-	13	1637	c.1526C>G	c.(1525-1527)TCA>TGA	p.S509*	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S91*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S509*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S404*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	509	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AGAAACTACTGAGATAATTAG	0.413		NaN											0	0	0	0.038147	0	6	20				
CRIP3	401262	broad.mit.edu	37	6	43273792	43273792	+	Missense_Mutation	SNP	T	T	C	rs139840752	by1000genomes	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:43273792T>C	uc010jyn.1	-	7	566	c.566A>G	c.(565-567)CAT>CGT	p.H189R	CRIP3_uc003ouu.1_Intron	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	189						cytoplasm	zinc ion binding			skin(1)	1			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGTCTGGGATGGGGCTGCCC	0.557		NaN											0	0	0	0.139131	0	119	27				
CLIC5	53405	broad.mit.edu	37	6	45922939	45922939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:45922939G>A	uc003oxv.3	-	2	689	c.583C>T	c.(583-585)CAG>TAG	p.Q195*	CLIC5_uc003oxu.3_Nonsense_Mutation_p.Q36*|CLIC5_uc003oxx.2_Nonsense_Mutation_p.Q36*	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	195	Helical; Note=After insertion into the membrane; (Potential).				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						AAGAGGCGCTGAGAGAAAGGA	0.478		NaN											0	0	0	0.189662	0	15	11				
KCNQ5	56479	broad.mit.edu	37	6	73843246	73843246	+	Silent	SNP	C	C	T	rs139916334		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:73843246C>T	uc003pgk.2	+	10	1697	c.1350C>T	c.(1348-1350)ACC>ACT	p.T450T	KCNQ5_uc011dyh.1_Silent_p.T469T|KCNQ5_uc011dyi.1_Silent_p.T460T|KCNQ5_uc010kat.2_Silent_p.T441T|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Silent_p.T200T	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	450					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCCCAAGCACCGACATCACAG	0.587		NaN											0	0	0	0.139131	0	47	56				
MANEA	79694	broad.mit.edu	37	6	96054015	96054015	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:96054015A>G	uc003poo.1	+	5	1263	c.1123A>G	c.(1123-1125)AAC>GAC	p.N375D		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	375	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAACACTCGGAACCGAATCAA	0.413		NaN											0	0	0	0.139131	0	47	39				
NUS1	116150	broad.mit.edu	37	6	118028140	118028140	+	Missense_Mutation	SNP	C	C	T	rs150953098		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:118028140C>T	uc003pxw.2	+	5	1061	c.844C>T	c.(844-846)CGT>TGT	p.R282C		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1	282	Cytoplasmic (Potential).				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)	1		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		CTCTGCCCTTCGTCAATATGC	0.433		NaN											0	0	0	0.108266	0	20	28				
PTPRK	5796	broad.mit.edu	37	6	128312003	128312003	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:128312003C>G	uc003qbk.2	-	21	3371	c.3004G>C	c.(3004-3006)GAT>CAT	p.D1002H	PTPRK_uc003qbj.2_Missense_Mutation_p.D1003H|PTPRK_uc010kfc.2_Missense_Mutation_p.D1009H|PTPRK_uc011ebu.1_Missense_Mutation_p.D1025H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1002	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTTCAGTATCATCAGGCCAA	0.348		NaN											0	0	0	0.146539	0	12	47				
SYNE1	23345	broad.mit.edu	37	6	152462392	152462392	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:152462392C>G	uc010kiw.2	-	139	25794	c.25192G>C	c.(25192-25194)GAG>CAG	p.E8398Q	SYNE1_uc010kiv.2_Missense_Mutation_p.E2922Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2922Q|SYNE1_uc003qot.3_Missense_Mutation_p.E8350Q|SYNE1_uc003qou.3_Missense_Mutation_p.E8398Q|SYNE1_uc003qop.3_Missense_Mutation_p.E583Q|SYNE1_uc011eez.1_Missense_Mutation_p.E600Q|SYNE1_uc003qoq.3_Missense_Mutation_p.E600Q|SYNE1_uc003qor.3_Missense_Mutation_p.E1321Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8398	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTCTCCTCTTCCTCCTTC	0.488		NaN								HNSCC(10;0.0054)			0	0	0	0.139131	0	58	16				
SYNE1	23345	broad.mit.edu	37	6	152690184	152690184	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:152690184G>C	uc010kiw.2	-	61	10332	c.9730C>G	c.(9730-9732)CAA>GAA	p.Q3244E	SYNE1_uc003qot.3_Missense_Mutation_p.Q3251E|SYNE1_uc003qou.3_Missense_Mutation_p.Q3244E|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.Q322E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3244	Spectrin 6.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGCAGCTTGTCCTTCCCAC	0.498		NaN								HNSCC(10;0.0054)			0	0	0	0.058154	0	9	34				
INTS1	26173	broad.mit.edu	37	7	1523488	1523488	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:1523488G>A	uc003skn.2	-	26	3532	c.3431C>T	c.(3430-3432)TCG>TTG	p.S1144L	INTS1_uc003skp.1_Missense_Mutation_p.S491L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1144					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGAGACTCCGACTGTGGGAA	0.647		NaN											0	0	0	0.189662	0	17	78				
SDK1	221935	broad.mit.edu	37	7	3998602	3998602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:3998602C>T	uc003smx.2	+	8	1329	c.1190C>T	c.(1189-1191)TCA>TTA	p.S397L		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	397	Ig-like C2-type 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTCGGATTTCAGCTGAAGTA	0.468		NaN											0	0	0	0.069288	0	17	71				
C7orf26	79034	broad.mit.edu	37	7	6629998	6629998	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:6629998C>T	uc003sqo.1	+	1	84	c.84C>T	c.(82-84)TTC>TTT	p.F28F	uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Silent_p.F28F|C7orf26_uc003sqq.1_5'UTR	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	28										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ACATCTACTTCAGCAGCCAGC	0.622		NaN											0	0	0	0.175082	0	15	25				
C1GALT1	56913	broad.mit.edu	37	7	7278084	7278084	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:7278084G>C	uc010ktn.2	+	3	642	c.419G>C	c.(418-420)AGA>ACA	p.R140T	C1GALT1_uc003sra.2_Missense_Mutation_p.R140T|C1GALT1_uc010kto.1_Missense_Mutation_p.R140T	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	140	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAAGAAGGCAGAGATCAACTA	0.373		NaN											0	0	0	0.080935	0	8	26				
DFNA5	1687	broad.mit.edu	37	7	24749946	24749946	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:24749946G>C	uc010kus.1	-	6	847	c.759C>G	c.(757-759)GTC>GTG	p.V253V	DFNA5_uc003swz.2_Silent_p.V89V|DFNA5_uc003sxa.1_Silent_p.V253V|DFNA5_uc010kut.1_Silent_p.V89V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	253					sensory perception of sound					ovary(1)	1						GGTCCAGGTAGACAGAGTCAA	0.473		NaN											0	0	0	0.146539	0	14	61				
URGCP	55665	broad.mit.edu	37	7	43916935	43916935	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:43916935G>C	uc003tiw.2	-	6	2184	c.2127C>G	c.(2125-2127)CTC>CTG	p.L709L	URGCP_uc003tiu.2_Silent_p.L666L|URGCP_uc003tiv.2_Silent_p.L634L|URGCP_uc003tix.2_Silent_p.L700L|URGCP_uc003tiy.2_Silent_p.L666L|URGCP_uc003tiz.2_Silent_p.L666L|URGCP_uc011kbj.1_Silent_p.L666L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	709					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ACATGGTGTTGAGGAGTGTGG	0.627		NaN											0	0	0	0.203993	0	31	123				
C7orf57	136288	broad.mit.edu	37	7	48080989	48080989	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:48080989G>A	uc003toh.3	+	3	326	c.114G>A	c.(112-114)GCG>GCA	p.A38A	C7orf57_uc003toi.3_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	38										ovary(1)	1						CCCCACCAGCGTCCCAGATCC	0.537		NaN											0	0	0	0.139131	0	36	49				
C7orf42	55069	broad.mit.edu	37	7	66418353	66418353	+	Silent	SNP	G	G	A	rs149604295		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:66418353G>A	uc003tvk.2	+	6	1185	c.921G>A	c.(919-921)GAG>GAA	p.E307E	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Silent_p.E307E	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	307						integral to membrane				ovary(1)	1						TTTGTCCCGAGAAGGTGAGCG	0.453		NaN											0	0	0	0.124865	0	35	180				
HIP1	3092	broad.mit.edu	37	7	75190679	75190679	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:75190679C>G	uc003uds.1	-	13	1186	c.1145G>C	c.(1144-1146)AGA>ACA	p.R382T	HIP1_uc011kfz.1_Missense_Mutation_p.R259T	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	382	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						ACTGATCTCTCTGTATAGTCG	0.443		NaN	T	PDGFRB	CMML								0	0	0	0.139131	0	46	85				
DTX2	113878	broad.mit.edu	37	7	76112191	76112191	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:76112191G>T	uc003uff.3	+	5	1191	c.635G>T	c.(634-636)GGC>GTC	p.G212V	DTX2_uc011kgk.1_Missense_Mutation_p.G121V|DTX2_uc003ufg.3_Missense_Mutation_p.G212V|DTX2_uc003ufh.3_Missense_Mutation_p.G212V|DTX2_uc003ufj.3_Missense_Mutation_p.G212V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	212					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CCCGTGTCAGGCCGCTACCGC	0.662		NaN											1	0	1.00246e-47	0.139131	1.07454e-47	45	444				
FZD1	8321	broad.mit.edu	37	7	90895017	90895017	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:90895017C>T	uc003ula.2	+	1	1235	c.822C>T	c.(820-822)TTC>TTT	p.F274F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	274	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGGCAAGTTCTCCTGCCCGC	0.692		NaN											0	0	0	0.080935	0	11	8				
COPS6	10980	broad.mit.edu	37	7	99686983	99686983	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:99686983C>G	uc003usu.2	+	2	178	c.147C>G	c.(145-147)CTC>CTG	p.L49L	COPS6_uc011kjf.1_Silent_p.L49L	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	49	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTGTCATTCTCAACATCTCAG	0.592		NaN											0	0	0	0.139131	0	134	175				
SRRT	51593	broad.mit.edu	37	7	100483362	100483362	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:100483362C>G	uc003uwy.2	+	12	1626	c.1358C>G	c.(1357-1359)TCA>TGA	p.S453*	SRRT_uc010lhl.1_Nonsense_Mutation_p.S452*|SRRT_uc003uxa.2_Nonsense_Mutation_p.S452*|SRRT_uc003uwz.2_Nonsense_Mutation_p.S453*	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	453					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GTGGCGCTCTCAGAGCCCCAG	0.537		NaN											0	0	0	0.02938	0	5	21				
LRRC4	64101	broad.mit.edu	37	7	127670203	127670203	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:127670203G>C	uc003vmk.2	-	2	628	c.491C>G	c.(490-492)TCT>TGT	p.S164C	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	164	LRR 4.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GAAGGCGTAAGAGGGGATGCT	0.572		NaN											0	0	0	0.214465	0	30	135				
CLCN1	1180	broad.mit.edu	37	7	143039166	143039166	+	Missense_Mutation	SNP	C	C	G	rs143825889		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:143039166C>G	uc003wcr.1	+	15	1814	c.1727C>G	c.(1726-1728)TCT>TGT	p.S576C	CLCN1_uc011ktc.1_Missense_Mutation_p.S188C	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	576	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CTGCAGCCCTCTCTCTATGAC	0.527		NaN											0	0	0	0.09836	0	36	47				
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:143657918G>A	uc003wds.1	+	1	899	c.855G>A	c.(853-855)CTG>CTA	p.L285L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					CACCAATGCTGAACCCCATGA	0.453		NaN											0	0	0	0.153744	0	26	46				
ZNF425	155054	broad.mit.edu	37	7	148800826	148800826	+	Silent	SNP	G	G	A	rs142180575		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:148800826G>A	uc003wfj.2	-	4	2210	c.2137C>T	c.(2137-2139)CTG>TTG	p.L713L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	713	C2H2-type 18.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAAGGCACAGATGGGCCTTC	0.552		NaN											0	0	0	0.062417	0	19	27				
ZNF425	155054	broad.mit.edu	37	7	148801778	148801778	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:148801778G>A	uc003wfj.2	-	4	1258	c.1185C>T	c.(1183-1185)TTC>TTT	p.F395F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	395	C2H2-type 7.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTTGTAGATGAATTTCCTGC	0.532		NaN											0	0	0	0.139131	0	55	92				
CTSB	1508	broad.mit.edu	37	8	11708405	11708405	+	Missense_Mutation	SNP	G	G	C	rs144771892		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:11708405G>C	uc003wum.2	-	6	621	c.297C>G	c.(295-297)ATC>ATG	p.I99M	CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.I99M|CTSB_uc003wuo.2_Missense_Mutation_p.I99M|CTSB_uc003wup.2_Missense_Mutation_p.I99M|CTSB_uc003wuq.2_Missense_Mutation_p.I99M|CTSB_uc010lsc.2_Nonsense_Mutation_p.S15*|CTSB_uc003wur.2_Missense_Mutation_p.I99M|CTSB_uc003wus.1_Missense_Mutation_p.I99M|CTSB_uc003wut.1_Missense_Mutation_p.I99M|CTSB_uc003wuu.2_5'Flank	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	99					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTGGTCTCTGATCTCTTTGA	0.572		NaN											0	0	0	0.132662	0	10	14				
TNFRSF10A	8797	broad.mit.edu	37	8	23082521	23082521	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:23082521C>G	uc003xda.2	-	1	119	c.54G>C	c.(52-54)CCG>CCC	p.P18P	uc003xdb.1_5'Flank	NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	18					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCGGGATTCGGAGTCACTG	0.632		NaN											0	0	0	0.062417	0	14	16				
ANK1	286	broad.mit.edu	37	8	41583422	41583422	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:41583422C>T	uc003xok.2	-	6	553	c.469G>A	c.(469-471)GAG>AAG	p.E157K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E157K|ANK1_uc003xoj.2_Missense_Mutation_p.E157K|ANK1_uc003xol.2_Missense_Mutation_p.E157K|ANK1_uc003xom.2_Missense_Mutation_p.E190K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	157	ANK 4.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGACGTTCTCATGGCCCTGC	0.662		NaN											0	0	0	0.183431	0	26	18				
PI15	51050	broad.mit.edu	37	8	75737599	75737599	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:75737599G>A	uc003yal.2	+	2	294	c.115G>A	c.(115-117)GAT>AAT	p.D39N	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D39N	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	39						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TAATTTCACTGATATTGAAGC	0.488		NaN											0	0	0	0.139131	0	50	50				
STMN2	11075	broad.mit.edu	37	8	80549051	80549051	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:80549051A>G	uc003ybj.2	+	2	85	c.34A>G	c.(34-36)ATG>GTG	p.M12V	STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Missense_Mutation_p.M12V	NM_007029	NP_008960	Q93045	STMN2_HUMAN	superiorcervical ganglia, neural specific 10	12	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAAGGAAAAAATGAAGGAGCT	0.358		NaN											0	0	0	0.132662	0	11	33				
KCNV1	27012	broad.mit.edu	37	8	110984713	110984713	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:110984713C>T	uc003ynr.3	-	2	1107	c.765G>A	c.(763-765)GGG>GGA	p.G255G	KCNV1_uc010mcw.2_Silent_p.G255G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	255	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAACTCCCCGGTGAACC	0.522		NaN											0	0	0	0.160694	0	15	67				
SNTB1	6641	broad.mit.edu	37	8	121644785	121644785	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:121644785C>A	uc010mdg.2	-	3	1121	c.895G>T	c.(895-897)GAC>TAC	p.D299Y	SNTB1_uc003ype.2_Missense_Mutation_p.D299Y	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	299					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCAGCAGGTCATTAACGTTG	0.537		NaN											1	0	3.73988e-18	0.116897	3.96984e-18	24	67				
C8orf76	84933	broad.mit.edu	37	8	124238796	124238796	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:124238796C>T	uc003yqc.1	-	5	923	c.892G>A	c.(892-894)GAA>AAA	p.E298K	C8orf76_uc003yqd.2_Missense_Mutation_p.E266K	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	298							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTATCTTCAATTTCCTGC	0.418		NaN											0	0	0	0.021553	0	4	26				
FLJ43860	389690	broad.mit.edu	37	8	142490016	142490016	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:142490016C>G	uc003ywi.2	-	8	1050	c.969G>C	c.(967-969)CAG>CAC	p.Q323H	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	323							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCACCTCCCTCTGCTTGGGCC	0.592		NaN											0	0	0	0.11911	0	12	48				
GRINA	2907	broad.mit.edu	37	8	145066426	145066426	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:145066426C>T	uc003zan.1	+	5	873	c.707C>T	c.(706-708)GCC>GTC	p.A236V	GRINA_uc003zao.1_Missense_Mutation_p.A236V|GRINA_uc003zap.1_Missense_Mutation_p.A236V	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	236	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCTGACCGCCAGCCTGTCG	0.627		NaN											0	0	0	0.055883	0	16	112				
HSF1	3297	broad.mit.edu	37	8	145535421	145535421	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:145535421C>T	uc003zbt.3	+	8	929	c.759C>T	c.(757-759)TAC>TAT	p.Y253Y	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672		NaN											0	0	0	0.193644	0	26	83				
DOCK8	81704	broad.mit.edu	37	9	339064	339064	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:339064C>T	uc003zgf.2	+	13	1593	c.1481C>T	c.(1480-1482)TCA>TTA	p.S494L	DOCK8_uc011lls.1_Missense_Mutation_p.S494L|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.S426L|DOCK8_uc003zgg.2_Missense_Mutation_p.S426L|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	494	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAAGATCATCATCCTTA	0.398		NaN											0	0	0	0.150653	0	3	11				
IFNA4	3441	broad.mit.edu	37	9	21187385	21187385	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:21187385T>G	uc003zon.2	-	1	214	c.146A>C	c.(145-147)CAT>CCT	p.H49P		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	49					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCAGGAGAAATGAGAGATTCT	0.517		NaN											0	0	0	0.086207	0	30	55				
OR13F1	138805	broad.mit.edu	37	9	107267429	107267429	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:107267429G>C	uc011lvm.1	+	1	886	c.886G>C	c.(886-888)GAG>CAG	p.E296Q		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						ACGGAACAAAGAGGTGAAAGT	0.373		NaN											0	0	0	0.076483	0	20	4				
NUP188	23511	broad.mit.edu	37	9	131745215	131745215	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:131745215C>T	uc004bws.1	+	17	1726	c.1704C>T	c.(1702-1704)ATC>ATT	p.I568I	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	568					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TCAAACCCATCATTGATCTCG	0.502		NaN											0	0	0	0.139131	0	40	52				
GPR107	57720	broad.mit.edu	37	9	132889830	132889830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:132889830G>A	uc004bze.2	+	18	1796	c.1569G>A	c.(1567-1569)TGG>TGA	p.W523*	GPR107_uc004bzb.2_Nonsense_Mutation_p.W286*|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Nonsense_Mutation_p.W494*|GPR107_uc004bzd.2_Nonsense_Mutation_p.W475*|GPR107_uc004bzg.1_5'Flank	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	523						integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				CATTCCAGTGGAAGTGGCTCT	0.418		NaN											0	0	0	0.153744	0	25	12				
ZNF645	158506	broad.mit.edu	37	X	22291896	22291896	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:22291896G>A	uc004dai.1	+	1	837	c.788G>A	c.(787-789)TGT>TAT	p.C263Y		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	263	Pro-rich.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TATCCTGAGTGTCAAAGTCAA	0.413		NaN											0	0	0	0.139131	0	55	70				
KDM6A	7403	broad.mit.edu	37	X	44949017	44949017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:44949017G>A	uc004dge.3	+	25	3953	c.3578G>A	c.(3577-3579)TGG>TAG	p.W1193*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1193	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						ATGGGTTCTTGGTGGCCCAAT	0.353		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.069234	0	9	1		Valid		
HUWE1	10075	broad.mit.edu	37	X	53620499	53620499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:53620499G>C	uc004dsp.2	-	32	3968	c.3566C>G	c.(3565-3567)TCA>TGA	p.S1189*	HUWE1_uc004dsn.2_Nonsense_Mutation_p.S14*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1189					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGGCAAGTCTGAGTGTTCCAA	0.453		NaN											0	0	0	0.189662	0	18	25				
VWA1	64856	broad.mit.edu	37	1	1372365	1372365	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:1372365C>T	uc001afs.2	+	2	352	c.132C>T	c.(130-132)AGC>AGT	p.S44S	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	44	VWFA.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCAGCCAGCGTCTCTCACT	0.672		NaN											0	0	0	0.279185	0	43	42				
VPS13D	55187	broad.mit.edu	37	1	12336628	12336628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12336628G>T	uc001atv.2	+	19	3124	c.2983G>T	c.(2983-2985)GAA>TAA	p.E995*	VPS13D_uc001atw.2_Nonsense_Mutation_p.E995*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E183*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	995					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATGATGCTGAAGTCTCCCT	0.453		NaN									OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.20344e-50	0.139131	2.47488e-50	107	69				
PRAMEF2	65122	broad.mit.edu	37	1	12918913	12918913	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12918913C>T	uc001aum.1	+	2	136	c.49C>T	c.(49-51)CTG>TTG	p.L17L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	17											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGAGCCTGCTGAGAGA	0.562		NaN											0	0	0	0.139131	0	106	77				
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:35853067C>T	uc001byt.2	+	13	2205	c.2125C>T	c.(2125-2127)CAG>TAG	p.Q709*	ZMYM4_uc009vuu.2_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.Q448*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	709	MYM-type 7.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAATGTTTCAGTTCTGTGG	0.294		NaN											0	0	0	0.183431	0	34	70				
PGM1	5236	broad.mit.edu	37	1	64114205	64114205	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:64114205G>A	uc001dbh.2	+	8	1375	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	PGM1_uc010ooy.1_Missense_Mutation_p.E191K|PGM1_uc010ooz.1_Missense_Mutation_p.E406K	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	388					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						CCACATCCGTGAGAAAGATGG	0.478		NaN											0	0	0	0.069234	0	10	24				
IL23R	149233	broad.mit.edu	37	1	67672625	67672625	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:67672625G>A	uc001ddo.2	+	6	770	c.685G>A	c.(685-687)GAG>AAG	p.E229K	IL23R_uc009waz.2_Missense_Mutation_p.E26K|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.E186K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Missense_Mutation_p.E74K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E88K|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.E88K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.E26K|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.E26K|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Intron|IL23R_uc010oqb.1_Missense_Mutation_p.E88K|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron|IL23R_uc001dds.2_5'Flank|IL23R_uc001ddt.2_5'Flank	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	229	Extracellular (Potential).|Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						TTCCAGGGCTGAGACTATAAA	0.373		NaN											0	0	0	0.160694	0	18	8				
FPGT	8790	broad.mit.edu	37	1	74670283	74670283	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:74670283C>A	uc001dgb.1	+	4	589	c.552C>A	c.(550-552)GAC>GAA	p.D184E	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	184					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TTAGGTTTGACAAACCTGGCT	0.348		NaN											1	0	1.06961e-07	0.27861	1.11268e-07	8	59				
RPAP2	79871	broad.mit.edu	37	1	92789860	92789860	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:92789860G>C	uc001dot.2	+	8	1492	c.1383G>C	c.(1381-1383)CTG>CTC	p.L461L	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	461						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGTTAAATCTGAGGATCAGGG	0.403		NaN											0	0	0	0.189662	0	20	58				
CRTC2	200186	broad.mit.edu	37	1	153930832	153930832	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:153930832C>A	uc010ped.1	-	1	212	c.142G>T	c.(142-144)GGC>TGC	p.G48C		NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	48					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGGTGGAGCCGATGTCCATC	0.572		NaN											1	0	4.7546e-09	0.146539	5.0477e-09	14	20				
NUF2	83540	broad.mit.edu	37	1	163317648	163317648	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:163317648G>A	uc001gcq.1	+	12	1344	c.1044G>A	c.(1042-1044)AAG>AAA	p.K348K	NUF2_uc001gcr.1_Silent_p.K348K|NUF2_uc009wvc.1_Silent_p.K301K	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	348	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					TGATTGTGAAGAAGGAAAAAC	0.353		NaN											0	0	0	0.058154	0	9	45				
POU2F1	5451	broad.mit.edu	37	1	167365587	167365587	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:167365587G>A	uc001gec.2	+	11	1145	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.R326Q|POU2F1_uc001gee.2_Missense_Mutation_p.R328Q|POU2F1_uc010plh.1_Missense_Mutation_p.R265Q|POU2F1_uc001gef.2_Missense_Mutation_p.R340Q|POU2F1_uc001geg.2_Missense_Mutation_p.R226Q|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	328	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						ACCATCTCTCGATTTGAAGCC	0.428		NaN											0	0	0	0.139131	0	124	13				
CAMSAP1L1	23271	broad.mit.edu	37	1	200819069	200819069	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:200819069G>A	uc001gvl.2	+	12	3475	c.3205G>A	c.(3205-3207)GAA>AAA	p.E1069K	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.E1058K|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.E1042K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1069						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ACATAATCCAGAAGAAAAGGA	0.413		NaN											0	0	0	0.279207	0	25	67				
ACTA1	58	broad.mit.edu	37	1	229567907	229567907	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:229567907G>C	uc001htm.2	-	5	747	c.642C>G	c.(640-642)ATC>ATG	p.I214M		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	214					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCTTCTCCTTGATGTCGCGCA	0.517		NaN											0	0	0	0.160694	0	16	12				
ARID4B	51742	broad.mit.edu	37	1	235403707	235403707	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:235403707A>G	uc001hwq.2	-	8	1004	c.506T>C	c.(505-507)ATT>ACT	p.I169T	ARID4B_uc001hwr.2_Missense_Mutation_p.I169T|ARID4B_uc001hws.3_Missense_Mutation_p.I169T|ARID4B_uc001hwu.1_Missense_Mutation_p.I169T|ARID4B_uc001hwt.3_5'UTR	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGCTCATCAATCTGTTTCCT	0.373		NaN											0	0	0	0.225048	0	38	4				
OR2T11	127077	broad.mit.edu	37	1	248789671	248789671	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:248789671G>C	uc001ier.1	-	1	759	c.759C>G	c.(757-759)TTC>TTG	p.F253L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTATGTGTAGAAGGCAGCCC	0.522		NaN											0	0	0	0.09319	0	13	51				
SH3BP5L	80851	broad.mit.edu	37	1	249119080	249119080	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:249119080G>A	uc001iew.1	-	2	607	c.55C>T	c.(55-57)CGG>TGG	p.R19W	SH3BP5L_uc001iev.1_5'UTR|hsa-mir-3124|MI0014140_5'Flank	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	19											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTCAGGCCGCAGCTCCCCC	0.607		NaN											0	0	0	0.139131	0	91	39				
GALNTL4	374378	broad.mit.edu	37	11	11362441	11362441	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:11362441G>A	uc001mjo.2	-	7	1624	c.1203C>T	c.(1201-1203)AAC>AAT	p.N401N		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	401	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CCCTGAGAGCGTTCCTGCGGA	0.582		NaN											0	0	0	0.139131	0	103	105				
PIK3C2A	5286	broad.mit.edu	37	11	17113773	17113773	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17113773G>C	uc001mmq.3	-	28	4568	c.4502C>G	c.(4501-4503)GCC>GGC	p.A1501G	PIK3C2A_uc009ygu.1_Missense_Mutation_p.A104G|PIK3C2A_uc010rcw.1_Missense_Mutation_p.A1121G|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1501	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TTTCCTTTTGGCTGCTACATC	0.323		NaN											0	0	0	0.134883	0	32	39				
KCNJ11	3767	broad.mit.edu	37	11	17408909	17408909	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17408909C>T	uc001mna.2	-	1	1298	c.730G>A	c.(730-732)GTG>ATG	p.V244M	KCNJ11_uc001mnb.3_Missense_Mutation_p.V157M	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	244						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TTGCCACCCACGCCGTTCTCC	0.627		NaN									OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.225048	0	39	46				
ACCS	84680	broad.mit.edu	37	11	44089204	44089204	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:44089204C>T	uc009yks.1	+	2	171	c.27C>T	c.(25-27)TTC>TTT	p.F9F	ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.1_Silent_p.F9F|ACCS_uc001mxx.2_Silent_p.F9F	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	9							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						AAAAGGACTTCAGGGCTCCCA	0.537		NaN											0	0	0	0.225048	0	37	34				
FOLH1	2346	broad.mit.edu	37	11	49227726	49227726	+	Splice_Site	SNP	T	T	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:49227726T>G	uc001ngy.2	-	2	380	c.119_splice	c.e2-1	p.G40_splice	FOLH1_uc001ngz.2_Splice_Site_p.G40_splice|FOLH1_uc009yly.2_Splice_Site_p.G25_splice|FOLH1_uc009ylz.2_Splice_Site_p.G25_splice|FOLH1_uc009yma.2_Splice_Site|FOLH1_uc001nha.2_Splice_Site_p.G25_splice	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TAAACCACCCTGAAAAATACA	0.299		NaN											0	0	0	0.069234	0	10	77				
VWCE	220001	broad.mit.edu	37	11	61036487	61036487	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:61036487C>G	uc001nra.2	-	15	2068	c.1789G>C	c.(1789-1791)GAT>CAT	p.D597H	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	597	VWFC 4.					extracellular region	calcium ion binding			ovary(1)	1						ACCGAGCCATCTGCCTGGAGG	0.612		NaN											0	0	0	0.09319	0	12	12				
GRIA4	2893	broad.mit.edu	37	11	105797472	105797472	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:105797472T>C	uc001pix.2	+	13	2299	c.1853T>C	c.(1852-1854)CTC>CCC	p.L618P	GRIA4_uc001piw.2_Missense_Mutation_p.L618P	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	618	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	tttagaTCCCTCTCAGGTCGA	0.259		NaN											0	0	0	0.294199	0	21	75				
TECTA	7007	broad.mit.edu	37	11	120998486	120998486	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:120998486C>T	uc010rzo.1	+	8	1800	c.1800C>T	c.(1798-1800)TTC>TTT	p.F600F		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	600	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCCGAGCTTCAGCCACTACT	0.622		NaN											0	0	0	0.301197	0	41	43				
NEUROD4	58158	broad.mit.edu	37	12	55420322	55420322	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:55420322G>C	uc001sgp.3	+	2	477	c.99G>C	c.(97-99)GAG>GAC	p.E33D		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	33					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						AGGTGAAGGAGGAAGAGAGCA	0.393		NaN											0	0	0	0.163468	0	32	11				
MTERFD3	80298	broad.mit.edu	37	12	107372070	107372070	+	Silent	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:107372070A>G	uc001tme.1	-	2	2242	c.423T>C	c.(421-423)TTT>TTC	p.F141F	MTERFD3_uc001tmf.1_Silent_p.F141F|MTERFD3_uc001tmg.1_Silent_p.F141F|MTERFD3_uc001tmh.1_Silent_p.F141F	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding				0						CTTTAATAGTAAAGAAAGATT	0.398		NaN											0	0	0	0.11911	0	15	77				
DCLK1	9201	broad.mit.edu	37	13	36396889	36396889	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:36396889C>T	uc001uvf.2	-	11	1764	c.1531G>A	c.(1531-1533)GAT>AAT	p.D511N	DCLK1_uc001uve.3_Missense_Mutation_p.D204N|DCLK1_uc010teh.1_Missense_Mutation_p.D204N|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	511	Protein kinase.	Proton acceptor (By similarity).			cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCTTGATATCACGGTGGACG	0.458		NaN											0	0	0	0.214465	0	36	40				
ZNF828	283489	broad.mit.edu	37	13	115089918	115089918	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:115089918C>T	uc010ahb.2	+	3	930	c.601C>T	c.(601-603)CCT>TCT	p.P201S	ZNF828_uc001vuv.2_Missense_Mutation_p.P201S|ZNF828_uc010tko.1_Missense_Mutation_p.P201S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	201	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		GAAACTTGCCCCTGTTCCTTC	0.488		NaN											0	0	0	0.139131	0	94	112				
RABGGTA	5875	broad.mit.edu	37	14	24739609	24739609	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739609C>T	uc001wof.2	-	3	592	c.170G>A	c.(169-171)GGA>GAA	p.G57E	RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.G57E|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	57	PFTA 1.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		AGGGTTGGCTCCCAGAATCTG	0.537		NaN											0	0	0	0.160694	0	18	1				
RABGGTA	5875	broad.mit.edu	37	14	24739631	24739631	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739631C>T	uc001wof.2	-	3	570	c.148G>A	c.(148-150)GAA>AAA	p.E50K	RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.E50K|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	50	PFTA 1.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		CTTGTCAGTTCCAGCACGGAC	0.522		NaN											0	0	0	0.160694	0	16	1				
RABGGTA	5875	broad.mit.edu	37	14	24740142	24740142	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24740142C>T	uc001wof.2	-	2	437	c.15G>A	c.(13-15)CTG>CTA	p.L5L	RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Silent_p.L5L|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	5					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		TCTTCACCTTCAGGCGTCCGT	0.557		NaN											0	0	0	0.047766	0	8	2				
FAM179B	23116	broad.mit.edu	37	14	45432049	45432049	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432049G>C	uc001wvv.2	+	1	634	c.425G>C	c.(424-426)CGA>CCA	p.R142P	FAM179B_uc001wvw.2_Missense_Mutation_p.R142P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R142P|FAM179B_uc001wvu.2_Missense_Mutation_p.R142P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	142							binding			skin(2)|upper_aerodigestive_tract(1)	3						GCACTGGGCCGAGTGCTTGTG	0.627		NaN											0	0	0	0.139131	0	54	11				
FAM179B	23116	broad.mit.edu	37	14	45432303	45432303	+	Missense_Mutation	SNP	G	G	C	rs148819135		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432303G>C	uc001wvv.2	+	1	888	c.679G>C	c.(679-681)GAT>CAT	p.D227H	FAM179B_uc001wvw.2_Missense_Mutation_p.D227H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.D227H|FAM179B_uc001wvu.2_Missense_Mutation_p.D227H	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	227							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGAAAGTACCGATGCCCGACT	0.493		NaN											0	0	0	0.139131	0	57	6				
TTC8	123016	broad.mit.edu	37	14	89307466	89307466	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:89307466A>G	uc010ath.2	+	4	519	c.385A>G	c.(385-387)ATC>GTC	p.I129V	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.I129V|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.I139V|TTC8_uc001xxj.2_Missense_Mutation_p.I129V|TTC8_uc001xxk.2_Missense_Mutation_p.I129V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	139					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						GGAACAGGCTATCAGAACACC	0.527		NaN							Bardet-Biedl_syndrome				0	0	0	0.219247	0	20	55				
MYO9A	4649	broad.mit.edu	37	15	72146901	72146901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:72146901C>G	uc002atl.3	-	35	6636	c.6163G>C	c.(6163-6165)GAG>CAG	p.E2055Q	MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.E850Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2055	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						GATGACAGCTCTGGATCATAC	0.348		NaN											0	0	0	0.139131	0	53	48				
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:83776476C>G	uc002bjp.2	+	1	153	c.44C>G	c.(43-45)TCG>TGG	p.S15W	TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	15	Helical; (Potential).					integral to membrane				ovary(1)	1						CTGTCCCTCTCGGCCATCCCG	0.567		NaN											0	0	0	0.217242	0	5	4				
FANCI	55215	broad.mit.edu	37	15	89858609	89858609	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:89858609G>A	uc010bnp.1	+	37	4003	c.3913G>A	c.(3913-3915)GAA>AAA	p.E1305K	FANCI_uc002bnm.1_Missense_Mutation_p.E1245K|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E1065K|FANCI_uc002bnq.1_Missense_Mutation_p.E718K	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1305					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGGTGAAGATGAAAATGAAGA	0.498		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.125774	0	31	39				
CHD2	1106	broad.mit.edu	37	15	93540489	93540489	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540489C>G	uc002bsp.2	+	30	4316	c.3741C>G	c.(3739-3741)TGC>TGG	p.C1247W	CHD2_uc002bso.1_Missense_Mutation_p.C1247W	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1247					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTAGATACTGCTTAACCTGTC	0.398		NaN											0	0	0	0.249174	0	24	48				
CHD2	1106	broad.mit.edu	37	15	93540504	93540504	+	Silent	SNP	C	C	G	rs141696596	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540504C>G	uc002bsp.2	+	30	4331	c.3756C>G	c.(3754-3756)GTC>GTG	p.V1252V	CHD2_uc002bso.1_Silent_p.V1252V	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388		NaN											0	0	0	0.116897	0	30	46				
TNRC6A	27327	broad.mit.edu	37	16	24815516	24815516	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:24815516G>A	uc002dmm.2	+	12	3827	c.3713G>A	c.(3712-3714)CGA>CAA	p.R1238Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R926Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1238	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CAAGACAAACGAATGGAGATA	0.398		NaN											0	0	0	0.099896	0	27	62				
FBXW10	10517	broad.mit.edu	37	17	18671866	18671866	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:18671866G>A	uc002guk.2	+	10	1956	c.1724G>A	c.(1723-1725)GGA>GAA	p.G575E	FBXW10_uc002guj.2_Missense_Mutation_p.G575E|FBXW10_uc002gul.2_Missense_Mutation_p.G604E|FBXW10_uc010cqh.1_Missense_Mutation_p.G575E	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	575	WD 6.									ovary(1)	1						GGCCATGAGGGAGCCGTGAAA	0.527		NaN											0	0	0	0.204396	0	19	39				
RHBDL3	162494	broad.mit.edu	37	17	30615898	30615898	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:30615898G>A	uc002hhe.1	+	4	396	c.382G>A	c.(382-384)GGG>AGG	p.G128R	RHBDL3_uc010csw.1_Missense_Mutation_p.G120R|RHBDL3_uc010csx.1_Missense_Mutation_p.G128R|RHBDL3_uc010csy.1_Missense_Mutation_p.G30R|RHBDL3_uc002hhf.1_Missense_Mutation_p.G30R	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	128					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGAGAAGGGGCTGAGCCT	0.592		NaN											0	0	0	0.189662	0	20	17				
SLFN12L	342615	broad.mit.edu	37	17	33807197	33807197	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:33807197C>A	uc002hjn.2	-	3	998	c.119G>T	c.(118-120)GGA>GTA	p.G40V		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						TAAGCCATTTCCACGCAGAAA	0.398		NaN											1	0	1.15088e-07	0.146539	1.18924e-07	17	15				
DNAJC7	7266	broad.mit.edu	37	17	40169378	40169378	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:40169378G>A	uc002hyo.2	-	1	294	c.57C>T	c.(55-57)CTC>CTT	p.L19L	DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	19					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTGGTCGTCGAGCAGCTCCG	0.657		NaN											0	0	0	0.139131	0	52	72				
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:43345029C>T	uc002iiw.1	-	13	2179	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	690					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						AAAGCTCTCTCGGCTGGGCAT	0.607		NaN											0	0	0	0.131918	0	46	60				
ABCC3	8714	broad.mit.edu	37	17	48741058	48741058	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:48741058A>G	uc002isl.2	+	9	1095	c.1015A>G	c.(1015-1017)ATC>GTC	p.I339V	ABCC3_uc002isk.3_Missense_Mutation_p.I339V|ABCC3_uc002ism.2_Missense_Mutation_p.I21V	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	339	Extracellular (By similarity).|ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GATCAGGTTTATCTCCAACCC	0.587		NaN											0	0	0	0.108266	0	27	49				
UNC13D	201294	broad.mit.edu	37	17	73832317	73832317	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:73832317G>A	uc002jpp.2	-	16	1790	c.1410C>T	c.(1408-1410)TTC>TTT	p.F470F	UNC13D_uc010wsk.1_Silent_p.F470F|UNC13D_uc002jpq.1_Silent_p.F120F|UNC13D_uc010dgq.1_Silent_p.F266F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	470	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCAGGTGGAACCATTCAG	0.667		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.058154	0	10	9				
CANT1	124583	broad.mit.edu	37	17	76993384	76993384	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:76993384G>A	uc002jwn.2	-	4	760	c.321C>T	c.(319-321)ATC>ATT	p.I107I	CANT1_uc002jwk.2_Silent_p.I107I|CANT1_uc002jwj.2_Silent_p.I107I|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	107	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGATAACTGCGATTCGATACC	0.577		NaN	T	ETV4	prostate								0	0	0	0.139131	0	109	127				
THOC4	10189	broad.mit.edu	37	17	79847100	79847100	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79847100C>T	uc002kbu.2	-	3	502	c.496G>A	c.(496-498)GCC>ACC	p.A166T	ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	159	RRM.|Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCTTCAGGGCATCTGCCTTC	0.582		NaN											0	0	0	0.279207	0	26	26				
DCXR	51181	broad.mit.edu	37	17	79994847	79994847	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79994847C>G	uc002kdg.2	-	3	208	c.193G>C	c.(193-195)GAG>CAG	p.E65Q		NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	65					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity				0	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGGTGGCCTCCCAGTCACCC	0.677		NaN											0	0	0	0.184627	0	4	6				
HEXDC	284004	broad.mit.edu	37	17	80400259	80400259	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:80400259G>A	uc002kew.2	+	12	1511	c.1460G>A	c.(1459-1461)TGA>TAA	p.*487*	HEXDC_uc002kev.3_Missense_Mutation_p.E517K|HEXDC_uc010diq.2_Silent_p.L489L|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	487					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGACCCCTGAGGGGAGAGC	0.701		NaN											0	0	0	0.125774	0	30	31				
C18orf19	125228	broad.mit.edu	37	18	13681707	13681707	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr18:13681707G>C	uc010dlh.2	-	3	802	c.370C>G	c.(370-372)CAA>GAA	p.Q124E	C18orf19_uc010dlg.2_Missense_Mutation_p.Q124E|C18orf19_uc010dli.2_Missense_Mutation_p.Q124E|C18orf19_uc002ksj.3_Missense_Mutation_p.Q124E|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	124	DUF1279.					integral to membrane				breast(2)	2						TTGAATCGTTGATAAAGACTA	0.388		NaN											0	0	0	0.139131	0	59	70				
ALKBH7	84266	broad.mit.edu	37	19	6372969	6372969	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:6372969G>A	uc002meo.1	+	1	526	c.138G>A	c.(136-138)GAG>GAA	p.E46E		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	46						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAGAGGAGGAGACGCTGAGCC	0.736		NaN											0	0	0	0.248553	0	7	2				
MED26	9441	broad.mit.edu	37	19	16688392	16688392	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:16688392G>T	uc002nen.1	-	3	510	c.249C>A	c.(247-249)CTC>CTA	p.L83L	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	83	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						CCGGCTCGATGAGCTTCTGCC	0.672		NaN											1	0	2.32416e-17	0.249174	2.53693e-17	24	26				
PDE4C	5143	broad.mit.edu	37	19	18327578	18327578	+	Silent	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:18327578C>G	uc010xqc.1	-	12	1938	c.1458G>C	c.(1456-1458)CTG>CTC	p.L486L	PDE4C_uc002nik.3_Silent_p.L486L|PDE4C_uc002nil.3_Silent_p.L486L|PDE4C_uc002nif.3_Silent_p.L255L|PDE4C_uc002nig.3_Silent_p.L201L|PDE4C_uc002nih.3_Silent_p.L256L|PDE4C_uc010ebk.2_Silent_p.L380L|PDE4C_uc002nii.3_Silent_p.L454L|PDE4C_uc010ebl.2_Silent_p.L200L|PDE4C_uc010xqd.1_Silent_p.L255L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	486					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	TGCGCAGACTCAGTCGCTGCT	0.617		NaN											0	0	0	0.257332	0	42	62				
HAPLN4	404037	broad.mit.edu	37	19	19371709	19371709	+	Missense_Mutation	SNP	C	C	T	rs114536312	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:19371709C>T	uc002nmb.2	-	3	452	c.397G>A	c.(397-399)GTC>ATC	p.V133I	HAPLN4_uc002nmc.2_Missense_Mutation_p.V133I	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	133	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			TGCAGCGTGACGTTGCGGAGG	0.652		NaN											0	0	0	0.294199	0	27	49				
ANKRD27	84079	broad.mit.edu	37	19	33113450	33113450	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:33113450G>C	uc002ntn.1	-	18	1861	c.1705C>G	c.(1705-1707)CTA>GTA	p.L569V		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	569	ANK 5.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GCAATGTGTAGAGGGGTGTCT	0.542		NaN											0	0	0	0.139131	0	67	84				
ERCC2	2068	broad.mit.edu	37	19	45868143	45868143	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:45868143G>A	uc002pbj.2	-	7	594	c.547C>T	c.(547-549)CTG>TTG	p.L183L	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.L159L|ERCC2_uc002pbl.3_Silent_p.L159L|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	183	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGCCGCCCCAGGGCCTTCAGG	0.632		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.219247	0	20	20				
HIF3A	64344	broad.mit.edu	37	19	46823770	46823770	+	Silent	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:46823770C>A	uc002peh.2	+	9	1125	c.1096C>A	c.(1096-1098)CGG>AGG	p.R366R	HIF3A_uc002peg.3_Silent_p.R366R|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.R310R|HIF3A_uc002pej.1_Silent_p.R297R|HIF3A_uc002pek.2_Silent_p.R310R|HIF3A_uc010xxy.1_Silent_p.R297R|HIF3A_uc002pel.2_Silent_p.R364R|HIF3A_uc010xxz.1_Silent_p.R315R	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACCCATTCAGCGGGGCGCCCC	0.657		NaN											1	0	5.20006e-24	0.301197	5.75721e-24	44	39				
TULP2	7288	broad.mit.edu	37	19	49384274	49384274	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384274G>A	uc002pkz.2	-	13	1708	c.1557C>T	c.(1555-1557)TTC>TTT	p.F519F		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	519					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCTTCTAATTGAAACTGGACA	0.512		NaN											0	0	0	0.134883	0	28	49				
TULP2	7288	broad.mit.edu	37	19	49384281	49384281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384281G>A	uc002pkz.2	-	13	1701	c.1550C>T	c.(1549-1551)TCC>TTC	p.S517F		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	517					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGAAACTGGACAAGCAGAT	0.517		NaN											0	0	0	0.173368	0	31	48				
TPO	7173	broad.mit.edu	37	2	1437377	1437377	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:1437377C>T	uc002qww.2	+	4	438	c.347C>T	c.(346-348)ACG>ATG	p.T116M	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.T116M|TPO_uc002qwu.2_Missense_Mutation_p.T116M|TPO_uc002qwr.2_Missense_Mutation_p.T116M|TPO_uc002qwx.2_Missense_Mutation_p.T116M|TPO_uc010yio.1_Missense_Mutation_p.T116M|TPO_uc010yip.1_Missense_Mutation_p.T116M	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	116	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGCATCCAACGGGTAATGTG	0.498		NaN											0	0	0	0.27861	0	8	5				
CCT7	10574	broad.mit.edu	37	2	73466864	73466864	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:73466864G>A	uc002siz.2	+	2	202	c.100G>A	c.(100-102)GAG>AAG	p.E34K	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E34K|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	34					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GGTGATTGCTGAGGCTGTAAG	0.522		NaN											0	0	0	0.105934	0	14	13				
IL18R1	8809	broad.mit.edu	37	2	103013262	103013262	+	Silent	SNP	G	G	A	rs138611669		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103013262G>A	uc002tbw.3	+	11	1692	c.1542G>A	c.(1540-1542)AAG>AAA	p.K514K	IL18R1_uc010ywc.1_Silent_p.K513K|IL18R1_uc010ywd.1_Silent_p.K358K|IL18R1_uc010fiy.2_Silent_p.K514K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	514	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						GGTTCTGGAAGAACCTTCTTT	0.413		NaN											0	0	0	0.125774	0	29	52				
MFSD9	84804	broad.mit.edu	37	2	103343352	103343352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103343352C>G	uc002tcb.2	-	4	447	c.379G>C	c.(379-381)GGA>CGA	p.G127R	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	127	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						GTGGCTGCTCCGAGAAGGAGA	0.483		NaN											0	0	0	0.26419	0	25	22				
RGPD3	653489	broad.mit.edu	37	2	107084739	107084739	+	Silent	SNP	A	A	G	rs6718521	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:107084739A>G	uc010ywi.1	-	1	63	c.6T>C	c.(4-6)AGT>AGC	p.S2S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	2					intracellular transport		binding			ovary(1)	1						CCTTGCTGCAACTCATCGCGC	0.657		NaN											0	0	0	0.115264	0	2	4				
GULP1	51454	broad.mit.edu	37	2	189449086	189449086	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:189449086A>G	uc010fru.2	+	10	1165	c.704A>G	c.(703-705)AAT>AGT	p.N235S	GULP1_uc002uqd.2_Missense_Mutation_p.N235S|GULP1_uc010zfw.1_Missense_Mutation_p.N132S|GULP1_uc002uqf.2_Missense_Mutation_p.N235S|GULP1_uc002uqg.2_Missense_Mutation_p.N235S|GULP1_uc002uqh.1_Missense_Mutation_p.N55S	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	235					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CCTACTCGCAATGGCACACAG	0.408		NaN											0	0	0	0.249174	0	22	72				
FN1	2335	broad.mit.edu	37	2	216249686	216249686	+	Silent	SNP	C	C	T	rs142628915		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:216249686C>T	uc002vfa.2	-	29	4892	c.4626G>A	c.(4624-4626)CCG>CCA	p.P1542P	FN1_uc002vfb.2_Silent_p.P1451P|FN1_uc002vfc.2_Silent_p.P1451P|FN1_uc002vfd.2_Silent_p.P1542P|FN1_uc002vfe.2_Silent_p.P1451P|FN1_uc002vff.2_Silent_p.P1451P|FN1_uc002vfg.2_Silent_p.P1451P|FN1_uc002vfh.2_Silent_p.P1451P|FN1_uc002vfi.2_Silent_p.P1542P|FN1_uc002vfj.2_Silent_p.P1542P|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.P169P|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1545	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTCCCTCGGAACATCAG	0.418		NaN											0	0	0	0.080935	0	11	8				
FARP2	9855	broad.mit.edu	37	2	242415381	242415381	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:242415381G>A	uc002wbi.1	+	19	2358	c.2241G>A	c.(2239-2241)GAG>GAA	p.E747E	hsa-mir-3133|MI0014153_5'Flank	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	747					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGGGCATAGAGAACCTCATTG	0.448		NaN											0	0	0	0.217242	0	5	1				
TGM3	7053	broad.mit.edu	37	20	2312720	2312720	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:2312720C>T	uc002wfx.3	+	10	1503	c.1406C>T	c.(1405-1407)ACG>ATG	p.T469M		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	469					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TTTGCCGCGACGTCTTCAATG	0.517		NaN											0	0	0	0.173368	0	35	37				
ASXL1	171023	broad.mit.edu	37	20	31021691	31021691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:31021691A>T	uc002wxs.2	+	11	2116	c.1690A>T	c.(1690-1692)AAA>TAA	p.K564*	ASXL1_uc010geb.2_Nonsense_Mutation_p.K455*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	564					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ACAGCCCACTAAAGAGGAGCC	0.527		NaN	F|N|Mis		MDS|CMML								0	0	0	0.139131	0	46	78				
SLC35C2	51006	broad.mit.edu	37	20	44979476	44979476	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:44979476G>T	uc002xro.2	-	9	1432	c.891C>A	c.(889-891)CTC>CTA	p.L297L	SLC35C2_uc002xrp.2_Silent_p.L276L|SLC35C2_uc002xrq.2_Silent_p.L297L|SLC35C2_uc002xrr.2_Silent_p.L297L|SLC35C2_uc010zxn.1_Silent_p.L162L|SLC35C2_uc010zxo.1_Silent_p.L183L|SLC35C2_uc010zxp.1_Silent_p.L326L	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	297	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCCAGTTCAGGAGGCTGATCT	0.577		NaN											1	0	2.23348e-06	0.146539	2.29265e-06	16	67				
C21orf29	54084	broad.mit.edu	37	21	45945598	45945598	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr21:45945598C>T	uc002zfe.1	-	8	1340	c.1274G>A	c.(1273-1275)CGA>CAA	p.R425Q	C21orf29_uc010gpv.1_Missense_Mutation_p.R357Q	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	425	EAR 3.				cell adhesion	extracellular region	structural molecule activity				0						CTCCCAGTCTCGGGCGCTGTG	0.572		NaN											0	0	0	0.139131	0	54	87				
DAZL	1618	broad.mit.edu	37	3	16636050	16636050	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:16636050A>G	uc003cbb.2	-	8	905	c.611T>C	c.(610-612)GTT>GCT	p.V204A	DAZL_uc003cba.2_Missense_Mutation_p.V224A	NM_001351	NP_001342	Q92904	DAZL_HUMAN	deleted in azoospermia-like	204					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity				0						CGGAGGTACAACATAGCTCCT	0.299		NaN											0	0	0	0.058154	0	10	10				
KCNH8	131096	broad.mit.edu	37	3	19384094	19384094	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:19384094G>T	uc003cbk.1	+	4	653	c.458G>T	c.(457-459)AGA>ATA	p.R153I	KCNH8_uc011awe.1_Missense_Mutation_p.R153I|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	153	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GTCAAAGGAAGATCAAGAGCA	0.448		NaN											1	0	2.79863e-10	0.099896	2.99164e-10	26	33				
CCR4	1233	broad.mit.edu	37	3	32995542	32995542	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:32995542G>A	uc003cfg.1	+	2	796	c.628G>A	c.(628-630)GGA>AGA	p.G210R		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	210	Helical; Name=5; (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						CAACATTCTCGGATTGGTGAT	0.458		NaN											0	0	0	0.139131	0	51	68				
BSN	8927	broad.mit.edu	37	3	49692105	49692105	+	Missense_Mutation	SNP	C	C	T	rs141249428	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:49692105C>T	uc003cxe.3	+	5	5230	c.5116C>T	c.(5116-5118)CGG>TGG	p.R1706W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1706					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AATCCCAGGACGGCAGTCGAC	0.587		NaN											0	0	0	0.246493	0	42	72				
ITIH1	3697	broad.mit.edu	37	3	52813598	52813598	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:52813598G>A	uc003dfs.2	+	5	585	c.561G>A	c.(559-561)GTG>GTA	p.V187V	ITIH1_uc010hmn.1_RNA	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	187					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCAGCTGGTGCATCATTTTG	0.532		NaN											0	0	0	0.235728	0	38	31				
SLMAP	7871	broad.mit.edu	37	3	57850350	57850350	+	Nonsense_Mutation	SNP	G	G	T	rs138089766		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:57850350G>T	uc003dje.1	+	10	1247	c.1042G>T	c.(1042-1044)GAA>TAA	p.E348*	SLMAP_uc003djc.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djd.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djf.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djg.1_5'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	348	Potential.|Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAAAATAGATGAAATGGAAGA	0.353		NaN											1	0	1.32136e-16	0.268233	1.43224e-16	44	51				
PLXND1	23129	broad.mit.edu	37	3	129324823	129324823	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:129324823G>A	uc003emx.2	-	1	760	c.660C>T	c.(658-660)TTC>TTT	p.F220F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	220	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGCGCGGGAAGAAGGAGCTGC	0.607		NaN											0	0	0	0.09319	0	12	16				
KLHL24	54800	broad.mit.edu	37	3	183368873	183368873	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368873G>C	uc003flv.2	+	3	1024	c.729G>C	c.(727-729)CTG>CTC	p.L243L	KLHL24_uc003flw.2_Silent_p.L243L|KLHL24_uc003flx.2_Silent_p.L243L	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	243	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCGTTGATCTGAGAAGACCAC	0.423		NaN											0	0	0	0.116897	0	30	38				
KLHL24	54800	broad.mit.edu	37	3	183368878	183368878	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368878G>A	uc003flv.2	+	3	1029	c.734G>A	c.(733-735)AGA>AAA	p.R245K	KLHL24_uc003flw.2_Missense_Mutation_p.R245K|KLHL24_uc003flx.2_Missense_Mutation_p.R245K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	245	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GATCTGAGAAGACCACTGTTA	0.423		NaN											0	0	0	0.294199	0	27	35				
KLHL24	54800	broad.mit.edu	37	3	183369003	183369003	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183369003G>A	uc003flv.2	+	3	1154	c.859G>A	c.(859-861)GAA>AAA	p.E287K	KLHL24_uc003flw.2_Missense_Mutation_p.E287K|KLHL24_uc003flx.2_Missense_Mutation_p.E287K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	287						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTTGTTGCATGAAGCAAGACG	0.418		NaN											0	0	0	0.249174	0	19	24				
ARAP2	116984	broad.mit.edu	37	4	36130168	36130168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:36130168C>T	uc003gsq.1	-	21	3965	c.3627G>A	c.(3625-3627)TGG>TGA	p.W1209*		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1209	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAGCAGAGATCCAATATGGGT	0.318		NaN											0	0	0	0.234183	0	22	37				
WDR19	57728	broad.mit.edu	37	4	39233498	39233498	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:39233498C>T	uc003gtv.2	+	18	2218	c.2064C>T	c.(2062-2064)CAC>CAT	p.H688H	WDR19_uc011byi.1_Silent_p.H528H|WDR19_uc003gtw.1_Silent_p.H285H	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	688					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GTCTACATCACATGGAAGTGG	0.413		NaN											0	0	0	0.125774	0	29	48				
COX7B2	170712	broad.mit.edu	37	4	46737171	46737171	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:46737171G>A	uc003gxf.2	-	3	219	c.39C>T	c.(37-39)CTC>CTT	p.L13L	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	13						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						TTTGAATCTTGAGACTGCTTA	0.423		NaN											0	0	0	0.203993	0	38	61				
FRYL	285527	broad.mit.edu	37	4	48549632	48549632	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:48549632T>A	uc003gyh.1	-	41	5648	c.5043A>T	c.(5041-5043)AAA>AAT	p.K1681N	FRYL_uc003gyg.1_Missense_Mutation_p.K377N|FRYL_uc003gyi.1_Missense_Mutation_p.K570N|FRYL_uc003gyj.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GTGCAACTTGTTTGACTGTAA	0.343		NaN											0	0	0	0.134883	0	28	21				
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:159547979G>C	uc003ipz.2	+	10	845	c.763G>C	c.(763-765)GAA>CAA	p.E255Q	RXFP1_uc010iqj.1_Missense_Mutation_p.E84Q|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255Q|RXFP1_uc011cjb.1_Missense_Mutation_p.E201Q|RXFP1_uc010iqk.2_Missense_Mutation_p.E123Q|RXFP1_uc011cjc.1_Missense_Mutation_p.E174Q|RXFP1_uc011cjd.1_Missense_Mutation_p.E174Q|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282Q|RXFP1_uc010iqm.2_Missense_Mutation_p.E222Q|RXFP1_uc011cjf.1_Missense_Mutation_p.E125Q|RXFP1_uc010iqn.2_Missense_Mutation_p.E201Q	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255	Extracellular (Potential).|LRR 5.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264		NaN											0	0	0	0.234183	0	18	21				
PLEKHG4B	153478	broad.mit.edu	37	5	163407	163407	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:163407C>G	uc003jak.2	+	11	2202	c.2152C>G	c.(2152-2154)CAT>GAT	p.H718D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	718					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCCAGGAAACATCCCCAGAA	0.607		NaN											0	0	0	0.139131	0	67	82				
EGFLAM	133584	broad.mit.edu	37	5	38370443	38370443	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:38370443G>A	uc003jlc.1	+	6	915	c.591G>A	c.(589-591)CAG>CAA	p.Q197Q	EGFLAM_uc003jlb.1_Silent_p.Q197Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	197	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					AGCGGATCCAGATGGACTCCA	0.507		NaN											0	0	0	0.235728	0	40	61				
PAIP1	10605	broad.mit.edu	37	5	43547922	43547922	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:43547922C>G	uc003job.2	-	3	776	c.529G>C	c.(529-531)GAA>CAA	p.E177Q	PAIP1_uc003joa.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivp.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E65Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	177	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATTTCAGTTTCAAAACTGCCA	0.398		NaN											0	0	0	0.268233	0	43	55		Valid		
KCNN2	3781	broad.mit.edu	37	5	113698898	113698898	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:113698898C>T	uc003kqo.2	+	1	883	c.426C>T	c.(424-426)GGC>GGT	p.G142G		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	142	Helical; Name=Segment S1; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCATCTTCGGCATGTTCGGCA	0.612		NaN											0	0	0	0.173368	0	35	2				
FAM193B	54540	broad.mit.edu	37	5	176958345	176958345	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:176958345C>T	uc003mhs.3	-	7	2703	c.1114G>A	c.(1114-1116)GAG>AAG	p.E372K	FAM193B_uc003mht.2_Missense_Mutation_p.E31K|FAM193B_uc003mhu.2_Intron|FAM193B_uc003mhv.2_Missense_Mutation_p.E31K|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	391											0						ACTTTGGGCTCCGTGCTGTTG	0.657		NaN											0	0	0	0.184627	0	5	0				
RING1	6015	broad.mit.edu	37	6	33179090	33179090	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:33179090G>T	uc003odk.2	+	5	805	c.611G>T	c.(610-612)CGT>CTT	p.R204L	RING1_uc011dqx.1_Missense_Mutation_p.R204L|RING1_uc003odl.2_Missense_Mutation_p.R175L	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	204	Necessary for transcriptional repression (By similarity).|Nuclear localization signal (Potential).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						AAGCGACCCCGTGGAGGGGGC	0.711		NaN											1	0	4.54149e-19	0.249174	4.99241e-19	21	38				
CDKN1A	1026	broad.mit.edu	37	6	36651906	36651906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:36651906C>T	uc003omm.3	+	2	150	c.28C>T	c.(28-30)CAG>TAG	p.Q10*	CDKN1A_uc011dtq.1_Nonsense_Mutation_p.Q44*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.Q10*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.Q10*	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	10					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GGATGTCCGTCAGAACCCATG	0.637		NaN							Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.26419	0	21	15		Valid		
CCND3	896	broad.mit.edu	37	6	41909293	41909293	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:41909293A>C	uc003orn.2	-	1	260	c.95T>G	c.(94-96)CTC>CGC	p.L32R	CCND3_uc003orp.2_Intron|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Intron|CCND3_uc003orm.2_5'Flank|CCND3_uc003oro.2_Missense_Mutation_p.L32R|CCND3_uc011dul.1_Missense_Mutation_p.L32R	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	32	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCAGGCGGAGCAGGCTCTG	0.552		NaN	T	IGH@	MM								0	0	0	0.248553	0	7	4		Valid		
MAD2L1BP	9587	broad.mit.edu	37	6	43608115	43608115	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:43608115G>C	uc003ovv.2	+	3	706	c.670G>C	c.(670-672)GAT>CAT	p.D224H	MAD2L1BP_uc003ovu.2_Missense_Mutation_p.D256H	NM_014628	NP_055443	Q15013	MD2BP_HUMAN	MAD2L1 binding protein isoform 2	224					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding				0	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGTGGAGAAGATTGGTTTCG	0.567		NaN											0	0	0	0.163468	0	34	25				
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:47200581C>G	uc003oyv.2	-	6	2321	c.1888G>C	c.(1888-1890)GAA>CAA	p.E630Q		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	630	Cytoplasmic (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493		NaN											0	0	0	0.139131	0	68	108				
DNAH11	8701	broad.mit.edu	37	7	21818711	21818711	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:21818711G>C	uc003svc.2	+	58	9524	c.9493G>C	c.(9493-9495)GAG>CAG	p.E3165Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3165	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CGCTGATGCTGAGGAGCGAAA	0.463		NaN							Kartagener_syndrome				0	0	0	0.09319	0	12	11				
ZNF479	90827	broad.mit.edu	37	7	57188745	57188745	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:57188745T>C	uc010kzo.2	-	5	648	c.377A>G	c.(376-378)AAA>AGA	p.K126R		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			ACAGCATTTTTTAAATTGTAA	0.368		NaN											0	0	0	0.09319	0	10	105				
LIMK1	3984	broad.mit.edu	37	7	73535372	73535372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:73535372G>A	uc003uaa.1	+	15	1939	c.1774G>A	c.(1774-1776)GAG>AAG	p.E592K	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.E558K	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	592	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				TCTGGACCCCGAGAAGAGGTG	0.672		NaN											0	0	0	0.139131	0	51	76				
CFTR	1080	broad.mit.edu	37	7	117232105	117232105	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:117232105G>A	uc003vjd.2	+	14	2016	c.1884G>A	c.(1882-1884)GGG>GGA	p.G628G	CFTR_uc011knq.1_Silent_p.G34G	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	628	Cytoplasmic (Potential).|ABC transporter 1.		G -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTTTTATGGGACATTTTCAG	0.343		NaN							Cystic_Fibrosis				0	0	0	0.139131	0	48	62				
TACC1	6867	broad.mit.edu	37	8	38677716	38677716	+	Silent	SNP	C	C	G	rs61734982	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:38677716C>G	uc010lwp.2	+	3	1333	c.954C>G	c.(952-954)CTC>CTG	p.L318L	TACC1_uc011lby.1_Silent_p.L123L|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Silent_p.L123L|TACC1_uc003xmc.3_Silent_p.L123L|TACC1_uc011lbz.1_Silent_p.L334L|TACC1_uc003xmb.3_Silent_p.L273L|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.L318L|TACC1_uc011lcb.1_Silent_p.L123L|TACC1_uc011lcc.1_Silent_p.L123L|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.L123L|TACC1_uc010lwq.2_Silent_p.L123L	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	318	Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCTCACCTCTCAAGCTTGAGT	0.527		NaN											0	0	0	0.301197	0	47	43				
DCAF4L2	138009	broad.mit.edu	37	8	88886086	88886086	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:88886086T>A	uc003ydz.2	-	1	211	c.114A>T	c.(112-114)AGA>AGT	p.R38S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	38										ovary(1)	1						AGTTGGCGAATCTGAGGAAAC	0.522		NaN											0	0	0	0.132662	0	15	58				
MPDZ	8777	broad.mit.edu	37	9	13137991	13137991	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137991C>T	uc010mia.1	-	28	4222	c.4165G>A	c.(4165-4167)GAT>AAT	p.D1389N	MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.D94N|MPDZ_uc010mhx.2_Missense_Mutation_p.D211N|MPDZ_uc011lmm.1_Missense_Mutation_p.D248N|MPDZ_uc003zkz.3_Missense_Mutation_p.D82N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1389N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1356N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1356N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1389N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1389	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AATCGACCATCTTTTCCTGCA	0.408		NaN											0	0	0	0.144211	0	31	19				
MPDZ	8777	broad.mit.edu	37	9	13137996	13137996	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137996C>T	uc010mia.1	-	28	4217	c.4160G>A	c.(4159-4161)GGA>GAA	p.G1387E	MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.G92E|MPDZ_uc010mhx.2_Missense_Mutation_p.G209E|MPDZ_uc011lmm.1_Missense_Mutation_p.G246E|MPDZ_uc003zkz.3_Missense_Mutation_p.G80E|MPDZ_uc010mhy.2_Missense_Mutation_p.G1387E|MPDZ_uc010mhz.2_Missense_Mutation_p.G1354E|MPDZ_uc011lmn.1_Missense_Mutation_p.G1354E|MPDZ_uc003zlb.3_Missense_Mutation_p.G1387E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1387	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCATCTTTTCCTGCAGCTCC	0.408		NaN											0	0	0	0.116897	0	30	21				
IFNA14	3448	broad.mit.edu	37	9	21239749	21239749	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:21239749G>T	uc010mis.2	-	1	230	c.186C>A	c.(184-186)CCC>CCA	p.P62P	IFNA14_uc003zoo.1_RNA	NM_002172	NP_002163	P01570	IFN14_HUMAN	interferon, alpha 14 precursor	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTCCTCCTGGGGAAATTCAA	0.473		NaN											1	0	3.07184e-27	0.139131	3.42543e-27	67	173				
RUSC2	9853	broad.mit.edu	37	9	35560350	35560350	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:35560350G>A	uc003zww.2	+	10	3968	c.3713G>A	c.(3712-3714)GGA>GAA	p.G1238E	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1238E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1238						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCagaaggtggagaagaggaa	0.557		NaN											0	0	0	0.058154	0	9	18				
SMC2	10592	broad.mit.edu	37	9	106880491	106880491	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:106880491G>A	uc004bbv.2	+	15	2119	c.1831G>A	c.(1831-1833)GAA>AAA	p.E611K	SMC2_uc004bbu.1_Missense_Mutation_p.E611K|SMC2_uc004bbw.2_Missense_Mutation_p.E611K|SMC2_uc011lvl.1_Missense_Mutation_p.E611K|SMC2_uc004bbx.2_Missense_Mutation_p.E611K	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	611	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						TTCCTTGGTTGAATATAAACC	0.388		NaN											0	0	0	0.131918	0	43	6				
C9orf5	23731	broad.mit.edu	37	9	111853251	111853251	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:111853251C>A	uc004bdt.3	-	5	1133	c.1101G>T	c.(1099-1101)CAG>CAT	p.Q367H	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.Q367H	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	367	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TCAACCAGATCTGCATGACGA	0.443		NaN											1	0	7.26314e-15	0.125774	7.81796e-15	27	7				
CSF2RA	1438	broad.mit.edu	37	X	1409371	1409371	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:1409371C>T	uc010nct.2	+	8	937	c.615C>T	c.(613-615)TTC>TTT	p.F205F	CSF2RA_uc011mhb.1_Silent_p.F205F|CSF2RA_uc004cpq.2_Silent_p.F205F|CSF2RA_uc004cpn.2_Silent_p.F205F|CSF2RA_uc004cpo.2_Silent_p.F205F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.F72F|CSF2RA_uc004cpp.2_Silent_p.F205F|CSF2RA_uc010ncv.2_Silent_p.F205F|CSF2RA_uc004cpr.2_Silent_p.F205F	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	205	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCATCCAATTCTTTGATTCAC	0.383		NaN											0	0	0	0.139131	0	129	179				
NHS	4810	broad.mit.edu	37	X	17744787	17744787	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:17744787G>A	uc004cxx.2	+	6	2836	c.2498G>A	c.(2497-2499)CGT>CAT	p.R833H	NHS_uc011mix.1_Missense_Mutation_p.R854H|NHS_uc004cxy.2_Missense_Mutation_p.R677H|NHS_uc004cxz.2_Missense_Mutation_p.R656H|NHS_uc004cya.2_Missense_Mutation_p.R556H	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	833						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CCACCTAAACGTAGCTCATCA	0.488		NaN											0	0	0	0.139131	0	89	7				
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:50089666C>T	uc004dox.3	+	10	3968	c.3670C>T	c.(3670-3672)CGT>TGT	p.R1224C	CCNB3_uc004doy.2_Missense_Mutation_p.R1224C|CCNB3_uc004doz.2_Missense_Mutation_p.R120C|CCNB3_uc010njq.2_Missense_Mutation_p.R116C|CCNB3_uc004dpa.2_Missense_Mutation_p.R63C	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1224					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CAACTCACCTCGTGTGGATGA	0.463		NaN											0	0	0	0.139131	0	44	3				
SLC16A2	6567	broad.mit.edu	37	X	73751256	73751256	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:73751256C>T	uc004ebt.2	+	6	1876	c.1710C>T	c.(1708-1710)TTC>TTT	p.F570F	SLC16A2_uc010nlr.1_3'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	496	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	TCCTCTTCTTCGTCCCTCTGA	0.532		NaN											0	0	0	0.139131	0	51	6				
FLNA	2316	broad.mit.edu	37	X	153593318	153593318	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:153593318C>T	uc004fkk.2	-	12	1948	c.1699G>A	c.(1699-1701)GAA>AAA	p.E567K	FLNA_uc010nuu.1_Missense_Mutation_p.E567K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	567	Filamin 3.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTCACTTCGAAGGGACTG	0.632		NaN											0	0	0	0.268233	0	42	42				
AGRN	375790	broad.mit.edu	37	1	979601	979601	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:979601C>G	uc001ack.1	+	11	2162	c.2112C>G	c.(2110-2112)GTC>GTG	p.V704V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	704	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCGTGTGTCTGTGACTTCA	0.706		NaN											0	0	0	0.01892	0	24	33				
CDK11A	728642	broad.mit.edu	37	1	1636040	1636040	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1636040C>T	uc009vks.2	-	14	1621	c.1513G>A	c.(1513-1515)GAG>AAG	p.E505K	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.E12K|CDK11A_uc009vkp.2_Missense_Mutation_p.E122K|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Missense_Mutation_p.E495K|CDK11A_uc010nys.1_Missense_Mutation_p.E495K|CDK11A_uc010nyt.1_3'UTR	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	508	Protein kinase.				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						AGGTCGTGCTCCACGTAGTTC	0.617		NaN											0	0	0	0.004482	0	8	5				
CDK11A	728642	broad.mit.edu	37	1	1636274	1636274	+	Nonsense_Mutation	SNP	C	C	T	rs2179381	by1000genomes	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1636274C>T	uc010nyt.1	-	13	1635	c.1527G>A	c.(1525-1527)TGG>TGA	p.W509*	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron|CDK11A_uc010nys.1_Intron			Q9UQ88	CD11A_HUMAN	SubName: Full=cDNA FLJ56415, highly similar to PITSLRE serine/threonine-protein kinase CDC2L1 (EC 2.7.11.22);	Error:Variant_position_missing_in_Q9UQ88_after_alignment					apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GCACCCGGCCCCAGGACAGCA	0.622		NaN											0	0	0	0.014758	0	5	24				
CDK11B	984	broad.mit.edu	37	1	1650892	1650892	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:1650892C>G	uc001agv.1	-	6	341	c.230G>C	c.(229-231)GGA>GCA	p.G77A	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.G43A|CDK11B_uc001agw.1_Missense_Mutation_p.G43A|CDK11B_uc001agy.1_Missense_Mutation_p.G77A|CDK11B_uc001agx.1_Missense_Mutation_p.G77A|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.G77A|CDK11A_uc009vks.2_Missense_Mutation_p.G77A|CDK11A_uc010nys.1_Missense_Mutation_p.G77A|CDK11A_uc010nyt.1_Missense_Mutation_p.G77A|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.G77A|CDK11A_uc009vku.1_Missense_Mutation_p.G77A|CDK11A_uc009vkv.1_Missense_Mutation_p.G77A|CDK11A_uc001aht.1_Missense_Mutation_p.G77A|CDK11B_uc001ahu.1_Missense_Mutation_p.G77A|CDK11B_uc001ahv.1_Missense_Mutation_p.G77A|CDK11B_uc001ahw.1_Missense_Mutation_p.G77A	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	77					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						ATCTTCTTCTCCTCTGAAATA	0.388		NaN											0	0	0	0.00874	0	42	90				
ACTRT2	140625	broad.mit.edu	37	1	2938728	2938728	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:2938728G>A	uc001ajz.2	+	1	683	c.478G>A	c.(478-480)GGG>AGG	p.G160R		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	160						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTGGACAGCGGGGATGCGGT	0.642		NaN											0	0	0	0.009096	0	4	46				
TP73	7161	broad.mit.edu	37	1	3649318	3649318	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:3649318G>C	uc001akp.2	+	14	1696	c.1586G>C	c.(1585-1587)GGG>GCG	p.G529A	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.G480A|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_Missense_Mutation_p.G449R|TP73_uc010nzk.1_Missense_Mutation_p.G458A|TP73_uc010nzl.1_Missense_Mutation_p.G78A	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	529	SAM.				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGGACCTGGGGGCCCTGAAG	0.706		NaN											0	0	0	0.004672	0	3	20				
LOC440563	440563	broad.mit.edu	37	1	13183780	13183780	+	Silent	SNP	A	A	C	rs116484938	by1000genomes	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:13183780A>C	uc010obg.1	-	1	188	c.93T>G	c.(91-93)TCT>TCG	p.S31S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	31						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						CCTCCACATCAGATTTCTTGA	0.468		NaN											0	0	0	0.008291	0	5	63				
UQCRHL	440567	broad.mit.edu	37	1	16134162	16134162	+	Translation_Start_Site	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:16134162G>C	uc009vol.1	-	1	33	c.-17C>G	c.(-19--15)ATCTA>ATGTA			NM_001089591	NP_001083060			ubiquinol-cytochrome c reductase hinge												0						TACGGTTCTAGATTTAACACG	0.269		NaN											0	0	0	0.006214	0	10	20				
SLC30A2	7780	broad.mit.edu	37	1	26371526	26371526	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:26371526G>C	uc001blh.1	-	2	450	c.233C>G	c.(232-234)TCT>TGT	p.S78C	SLC30A2_uc001blg.1_Missense_Mutation_p.S78C	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 2	78	Cytoplasmic (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCAGAGGCTACATA	0.527		NaN											0	0	0	0.00632	0	28	78				
PHACTR4	65979	broad.mit.edu	37	1	28817511	28817511	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:28817511G>C	uc001bpw.2	+	11	2147	c.1865G>C	c.(1864-1866)CGG>CCG	p.R622P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R606P|PHACTR4_uc001bpy.2_Missense_Mutation_p.R632P|PHACTR4_uc001bpz.2_5'Flank	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	622	RPEL 3.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAAACGTCGGCTCACTAGA	0.343		NaN											0	0	0	0.00308	0	8	25				
C1orf91	56063	broad.mit.edu	37	1	32687561	32687561	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:32687561C>T	uc009vub.1	-	2	78	c.75G>A	c.(73-75)CTG>CTA	p.L25L	C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA|C1orf91_uc010oha.1_RNA|C1orf91_uc001buq.3_Silent_p.L25L|EIF3I_uc001bur.3_5'UTR|EIF3I_uc009vuc.2_5'Flank|EIF3I_uc001bus.2_5'Flank			Q8WY98	TM234_HUMAN	RecName: Full=UPF0546 membrane protein C1orf91;	25						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCCCGCTTCAGCAGCGGCT	0.642		NaN											0	0	0	0.010729	0	11	25				
KIAA0319L	79932	broad.mit.edu	37	1	35915552	35915552	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:35915552C>T	uc001byx.2	-	15	2527	c.2269G>A	c.(2269-2271)GAG>AAG	p.E757K	KIAA0319L_uc001byw.2_Missense_Mutation_p.E199K|KIAA0319L_uc010ohv.1_Missense_Mutation_p.E399K	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	757	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGGTTCCCTCAACCAGGTTT	0.453		NaN											0	0	0	0.015359	0	35	43				
HIVEP3	59269	broad.mit.edu	37	1	41990541	41990541	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:41990541C>T	uc001cgz.3	-	6	6461	c.5248G>A	c.(5248-5250)GGC>AGC	p.G1750S	HIVEP3_uc001cha.3_Missense_Mutation_p.G1750S|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1750					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCCCTCGGCCGCGGCCTCGC	0.502		NaN											0	0	0	0.00499	0	18	34				
NEGR1	257194	broad.mit.edu	37	1	72400821	72400821	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:72400821G>A	uc001dfw.2	-	2	450	c.350C>T	c.(349-351)ACG>ATG	p.T117M	NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.T117M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	117	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AACAGAACACGTGTATGGGCC	0.418		NaN											0	0	0	0.024245	0	16	26				
TYW3	127253	broad.mit.edu	37	1	75204401	75204401	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:75204401G>A	uc001dgn.2	+	3	372	c.283G>A	c.(283-285)GAT>AAT	p.D95N	TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	95					tRNA processing		methyltransferase activity			ovary(2)	2						AGCAAATGGTGATGCCACTTT	0.378		NaN											0	0	0	0.004482	0	9	16				
GBP1	2633	broad.mit.edu	37	1	89528910	89528910	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:89528910G>A	uc001dmx.2	-	2	228	c.8C>T	c.(7-9)TCA>TTA	p.S3L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	3					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGATCTCTGATGCCATGTC	0.453		NaN											0	0	0	0.00632	0	28	60				
TRIM33	51592	broad.mit.edu	37	1	114940612	114940612	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:114940612T>C	uc001eew.2	-	19	3205	c.3121A>G	c.(3121-3123)ATG>GTG	p.M1041V	TRIM33_uc010owr.1_Missense_Mutation_p.M655V|TRIM33_uc010ows.1_Missense_Mutation_p.M673V|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1041	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTCATCATCTAAAAAGGA	0.343		NaN	T	RET	papillary thyroid								0	0	0	0.010504	0	22	52				
NGF	4803	broad.mit.edu	37	1	115829160	115829160	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:115829160C>T	uc001efu.1	-	3	426	c.257G>A	c.(256-258)CGT>CAT	p.R86H		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	86					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AAACAGCACACGGGGTGAACG	0.632		NaN											0	0	0	0.008291	0	11	30				
NOTCH2	4853	broad.mit.edu	37	1	120462189	120462189	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:120462189C>G	uc001eik.2	-	31	5783	c.5527G>C	c.(5527-5529)GAT>CAT	p.D1843H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1843	Cytoplasmic (Potential).|ANK 1.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACTCAAATCTGAGCTGCCT	0.498		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.00308	0	7	14				
RPTN	126638	broad.mit.edu	37	1	152127966	152127966	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:152127966G>T	uc001ezs.1	-	3	1674	c.1609C>A	c.(1609-1611)CAG>AAG	p.Q537K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	537	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						CTGTCCATCTGACTGTAGTGG	0.532		NaN											1	0	4.53783e-81	0.01441	4.95855e-81	251	468				
OR6N2	81442	broad.mit.edu	37	1	158747279	158747279	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:158747279G>A	uc010pir.1	-	1	147	c.147C>T	c.(145-147)ATC>ATT	p.I49I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CATCCAGTCGGATGACTGAGA	0.483		NaN											0	0	0	0.01892	0	25	77				
FCRLB	127943	broad.mit.edu	37	1	161697272	161697272	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:161697272G>A	uc001gbh.2	+	8	1335	c.1101G>A	c.(1099-1101)CTG>CTA	p.L367L	FCRLB_uc009wus.2_Silent_p.L367L|FCRLB_uc001gbj.2_Silent_p.*319*|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.*312*|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.L367L|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	367						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CTGGAGCCCTGAAACCCGACG	0.682		NaN											0	0	0	0.00499	0	16	29				
MAEL	84944	broad.mit.edu	37	1	166959001	166959001	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:166959001T>C	uc001gdy.1	+	2	231	c.160T>C	c.(160-162)TAC>CAC	p.Y54H	MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	54	HMG box.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AAAGGAGAAATACGCAGAAAT	0.532		NaN											0	0	0	0.021553	0	5	8				
C1orf125	126859	broad.mit.edu	37	1	179399689	179399689	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:179399689G>C	uc001gmo.2	+	14	1562	c.1435G>C	c.(1435-1437)GAG>CAG	p.E479Q	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.E267Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E479Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	479	Potential.										0						GTCTACAAGCGAGACACTGAA	0.368		NaN											0	0	0	0.00499	0	18	47				
LHX4	89884	broad.mit.edu	37	1	180243439	180243439	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:180243439C>G	uc001goe.1	+	6	1121	c.898C>G	c.(898-900)CAG>GAG	p.Q300E	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	300						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACAATCCTATCAGGACTTGAG	0.542		NaN											0	0	0	0.025465	0	40	81				
RGL1	23179	broad.mit.edu	37	1	183895257	183895257	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:183895257C>T	uc001gqo.2	+	18	2295	c.2138C>T	c.(2137-2139)TCA>TTA	p.S713L	RGL1_uc001gqm.2_Missense_Mutation_p.S748L|RGL1_uc010pog.1_Missense_Mutation_p.S711L|RGL1_uc010poh.1_Missense_Mutation_p.S711L|RGL1_uc010poi.1_Missense_Mutation_p.S684L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	713	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						ATTCCAGACTCAGCAAATGTC	0.443		NaN											0	0	0	0.016723	0	14	47				
PTGS2	5743	broad.mit.edu	37	1	186643532	186643532	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:186643532C>T	uc001gsb.2	-	10	1905	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N	PTGS2_uc009wyo.2_Missense_Mutation_p.D437N	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	590					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GGATTGATATCATCTAGTCCG	0.368		NaN											0	0	0	0.01892	0	26	52				
FAM58B	339521	broad.mit.edu	37	1	200183226	200183226	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:200183226C>T	uc009wzi.1	+	1	571	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	179					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					GGCCCTGCTGCGGGACAGCTA	0.637		NaN											0	0	0	0.006214	0	10	37				
SPATA17	128153	broad.mit.edu	37	1	217804728	217804728	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:217804728C>G	uc001hlh.1	+	1	34	c.8C>G	c.(7-9)ACG>AGG	p.T3R	GPATCH2_uc001hlf.1_5'Flank|SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.T3R|GPATCH2_uc001hlg.3_5'Flank	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	3						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACCATGGCCACGTTAGCCCGG	0.527		NaN											0	0	0	0.014758	0	5	20				
PCNXL2	80003	broad.mit.edu	37	1	233363102	233363102	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:233363102G>C	uc001hvl.2	-	10	2609	c.2374C>G	c.(2374-2376)CTG>GTG	p.L792V	PCNXL2_uc009xfu.2_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Missense_Mutation_p.L91V	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	792						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGGCTTCCAGATCCTGACTC	0.343		NaN											0	0	0	0.020292	0	15	20				
OR2M7	391196	broad.mit.edu	37	1	248487244	248487244	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:248487244G>A	uc010pzk.1	-	1	627	c.627C>T	c.(625-627)TTC>TTT	p.F209F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCAACAGGGAAAACAAGCA	0.418		NaN											0	0	0	0.01441	0	87	201				
CELF2	10659	broad.mit.edu	37	10	11367804	11367804	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:11367804G>C	uc001iki.3	+	12	1353	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q	CELF2_uc010qbj.1_Missense_Mutation_p.E427Q|CELF2_uc001ikk.2_Missense_Mutation_p.E446Q|CELF2_uc001ikl.3_Missense_Mutation_p.E434Q|CELF2_uc010qbl.1_Missense_Mutation_p.E397Q|CELF2_uc010qbm.1_Missense_Mutation_p.E193Q|CELF2_uc001iko.3_Missense_Mutation_p.E401Q|CELF2_uc001ikp.3_Missense_Mutation_p.E403Q|CELF2_uc010qbn.1_Missense_Mutation_p.E409Q|CELF2_uc010qbo.1_Missense_Mutation_p.E316Q|CELF2_uc010qbp.1_Missense_Mutation_p.E193Q	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	421	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						CTTAGGTCCAGAGGGGGCAAA	0.418		NaN											0	0	0	0.008291	0	11	36				
TRDMT1	1787	broad.mit.edu	37	10	17216603	17216603	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:17216603C>T	uc001iop.2	-	2	169	c.121G>A	c.(121-123)GAA>AAA	p.E41K	TRDMT1_uc001ioq.2_Missense_Mutation_p.E41K|TRDMT1_uc001ior.2_Missense_Mutation_p.E41K|TRDMT1_uc001ios.2_5'UTR|TRDMT1_uc009xjt.2_Missense_Mutation_p.M7I|TRDMT1_uc010qcd.1_Missense_Mutation_p.E41K|TRDMT1_uc009xjs.1_Missense_Mutation_p.M7I|TRDMT1_uc009xju.1_RNA	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	41					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						TTGTATACTTCATTAGCGACA	0.363		NaN											0	0	0	0.024245	0	16	47				
ANKRD26	22852	broad.mit.edu	37	10	27332447	27332447	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:27332447G>A	uc001ith.2	-	20	2238	c.2066C>T	c.(2065-2067)TCA>TTA	p.S689L	ANKRD26_uc001itg.2_Missense_Mutation_p.S376L|ANKRD26_uc009xku.1_Missense_Mutation_p.S690L	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	689						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TGTTTCAGATGACTGAGTTAA	0.373		NaN											0	0	0	0.008291	0	11	12				
SVIL	6840	broad.mit.edu	37	10	29776225	29776225	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:29776225C>G	uc001iut.1	-	24	5105	c.4352G>C	c.(4351-4353)AGA>ACA	p.R1451T	LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.R365T|SVIL_uc001iuu.1_Missense_Mutation_p.R1025T|SVIL_uc009xlc.2_Missense_Mutation_p.R243T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1451	Gelsolin-like 1.|Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CACATGTCTTCTTCCTGAACA	0.582		NaN											0	0	0	0.006214	0	9	23				
MAP3K8	1326	broad.mit.edu	37	10	30727904	30727904	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:30727904G>C	uc001ivi.1	+	3	733	c.37G>C	c.(37-39)GAG>CAG	p.E13Q	MAP3K8_uc009xlf.1_Missense_Mutation_p.E13Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E13Q	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	13					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				CAATAAAGAAGAGATTGATTT	0.323		NaN											0	0	0	0.001984	0	7	15				
MAP3K8	1326	broad.mit.edu	37	10	30727994	30727994	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:30727994G>C	uc001ivi.1	+	3	823	c.127G>C	c.(127-129)GAA>CAA	p.E43Q	MAP3K8_uc009xlf.1_Missense_Mutation_p.E43Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E43Q	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	43					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AGCAGTTTATGAACCCAGTCT	0.363		NaN											0	0	0	0.016723	0	14	40				
BMS1	9790	broad.mit.edu	37	10	43292616	43292616	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:43292616G>C	uc001jaj.2	+	10	2282	c.1924G>C	c.(1924-1926)GAA>CAA	p.E642Q		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	642					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CAGTGATATAGAAAATTTACT	0.373		NaN											0	0	0	0.008871	0	13	38				
BMS1	9790	broad.mit.edu	37	10	43292652	43292652	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:43292652G>C	uc001jaj.2	+	10	2318	c.1960G>C	c.(1960-1962)GAA>CAA	p.E654Q		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	654					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TTACAAGGAAGAAAATAATGA	0.383		NaN											0	0	0	0.013537	0	5	37				
GDF2	2658	broad.mit.edu	37	10	48413880	48413880	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:48413880T>A	uc001jfa.1	-	2	1151	c.988A>T	c.(988-990)ACC>TCC	p.T330S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	330					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.T330I(1)		ovary(2)|skin(1)	3						CGCAGGGAGGTCTTTTGACAG	0.607		NaN											0	0	0	0.016522	0	24	36				
ANK3	288	broad.mit.edu	37	10	61830481	61830481	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:61830481C>T	uc001jky.2	-	37	10350	c.10158G>A	c.(10156-10158)GGG>GGA	p.G3386G	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3386					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGTCGTTGTTCCCATTCTGGG	0.468		NaN											0	0	0	0.015359	0	36	67				
ANK3	288	broad.mit.edu	37	10	61831191	61831191	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:61831191C>G	uc001jky.2	-	37	9640	c.9448G>C	c.(9448-9450)GAT>CAT	p.D3150H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3150					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AGAGTATCATCTTCTGGACTA	0.428		NaN											0	0	0	0.00632	0	30	72				
ZMIZ1	57178	broad.mit.edu	37	10	81037044	81037044	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:81037044C>G	uc001kaf.2	+	8	959	c.387C>G	c.(385-387)CTC>CTG	p.L129L	ZMIZ1_uc001kag.2_Silent_p.L5L|ZMIZ1_uc001kah.1_Silent_p.L5L	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	129					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCCCCTCTCAGCTCCATGA	0.622		NaN											0	0	0	0.004672	0	3	28				
ARL3	403	broad.mit.edu	37	10	104459170	104459170	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:104459170C>G	uc001kwa.2	-	3	382	c.224G>C	c.(223-225)AGA>ACA	p.R75T		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	75					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CCAGTATGGTCTGATTTTCCT	0.358		NaN											0	0	0	0.021553	0	6	8				
TACC2	10579	broad.mit.edu	37	10	123903125	123903125	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr10:123903125C>T	uc001lfv.2	+	7	6098	c.5738C>T	c.(5737-5739)TCG>TTG	p.S1913L	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1913						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCCTCCCTCGGCTGCAGAA	0.562		NaN									OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	10	40				
MUC6	4588	broad.mit.edu	37	11	1026380	1026380	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:1026380G>A	uc001lsw.2	-	20	2544	c.2493C>T	c.(2491-2493)TTC>TTT	p.F831F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	831					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGACCCCCGAGAACTCACATG	0.647		NaN											0	0	0	0.021553	0	6	11				
DCHS1	8642	broad.mit.edu	37	11	6643190	6643190	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:6643190G>A	uc001mem.1	-	21	10127	c.9717C>T	c.(9715-9717)ATC>ATT	p.I3239I	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3239	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATGGCTGATGGGGGAGC	0.642		NaN											0	0	0	0.00308	0	7	6				
CSRP3	8048	broad.mit.edu	37	11	19209781	19209781	+	Silent	SNP	G	G	A	rs34075817		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:19209781G>A	uc001mpk.2	-	3	300	c.183C>T	c.(181-183)TGC>TGT	p.C61C		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	61	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						TGCGCCCATAGCACACCTTGC	0.587		NaN											0	0	0	0.01892	0	25	48				
DCDC1	341019	broad.mit.edu	37	11	31327862	31327862	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:31327862G>C	uc001msv.2	-	5	710	c.508C>G	c.(508-510)CAA>GAA	p.Q170E	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	170	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ACTCTTGGTTGAAGTTTGTGT	0.368		NaN											0	0	0	0.007413	0	20	25				
TNKS1BP1	85456	broad.mit.edu	37	11	57076206	57076206	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:57076206C>G	uc001njr.2	-	5	4291	c.3979G>C	c.(3979-3981)GAC>CAC	p.D1327H	TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1327H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D778H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1327	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CCTCCAGAGTCTGGGTCACAG	0.607		NaN											0	0	0	0.01441	0	56	100				
PRPF19	27339	broad.mit.edu	37	11	60671234	60671234	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:60671234T>C	uc001nqf.2	-	2	326	c.119A>G	c.(118-120)GAC>GGC	p.D40G		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	40	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						GTTGATGGGGTCGGTACCATT	0.532		NaN											0	0	0	0.014323	0	22	42				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Silent	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:61161357T>G	uc010rlj.1	+	3	410	c.117T>G	c.(115-117)GGT>GGG	p.G39G	TMEM216_uc001nrn.1_5'UTR	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane					0						TATTGGCAGGTGTCCTGCTAC	0.438		NaN											0	0	0	0.006214	0	6	20				
MARK2	2011	broad.mit.edu	37	11	63666131	63666131	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:63666131A>T	uc001nxw.2	+	5	968	c.389A>T	c.(388-390)GAG>GTG	p.E130V	MARK2_uc001nxx.2_Missense_Mutation_p.E130V|MARK2_uc001nxy.2_Missense_Mutation_p.E130V|MARK2_uc001nxv.3_Missense_Mutation_p.E130V|MARK2_uc001nxz.3_Missense_Mutation_p.E97V|MARK2_uc009yoy.2_Missense_Mutation_p.E97V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	130	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CTTGTCATGGAGTACGCTAGT	0.498		NaN											0	0	0	0.027356	0	26	45				
FERMT3	83706	broad.mit.edu	37	11	63978782	63978782	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:63978782C>T	uc001nyl.2	+	5	699	c.550C>T	c.(550-552)CAC>TAC	p.H184Y	FERMT3_uc001nym.2_Missense_Mutation_p.H184Y	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	184					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GATGCCAGCTCACTTCTCGGA	0.706		NaN											0	0	0	0.013537	0	11	9				
MEN1	4221	broad.mit.edu	37	11	64575138	64575138	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:64575138C>T	uc001obj.2	-	4	757	c.684G>A	c.(682-684)CTG>CTA	p.L228L	MEN1_uc001obk.2_Silent_p.L228L|MEN1_uc001obl.2_Silent_p.L188L|MEN1_uc001obm.2_Silent_p.L223L|MEN1_uc001obn.2_Silent_p.L228L|MEN1_uc001obo.2_Silent_p.L228L|MEN1_uc001obp.2_Silent_p.L223L|MEN1_uc001obq.2_Silent_p.L228L|MEN1_uc001obr.2_Silent_p.L228L	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	228	Interaction with FANCD2.		L -> P (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						ATGATCCTTTCAGGTACAGCC	0.552		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.01892	0	23	22				
DPP3	10072	broad.mit.edu	37	11	66259013	66259013	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:66259013G>A	uc001oig.1	+	8	909	c.847G>A	c.(847-849)GAG>AAG	p.E283K	DPP3_uc001oif.1_Missense_Mutation_p.E283K|DPP3_uc010rpe.1_Missense_Mutation_p.E272K	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	283					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						CCAGTATATAGAGAGCTTCAC	0.657		NaN									OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00499	0	16	25				
ADRBK1	156	broad.mit.edu	37	11	67052379	67052379	+	Missense_Mutation	SNP	C	C	G	rs1051181		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:67052379C>G	uc009yrn.1	+	19	1982	c.1716C>G	c.(1714-1716)TTC>TTG	p.F572L	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	572	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCAACCCCTTCCTGACCCAGT	0.667		NaN											0	0	0	0.010729	0	12	22				
SYTL2	54843	broad.mit.edu	37	11	85445049	85445049	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:85445049G>C	uc010rth.1	-	6	1596	c.1320C>G	c.(1318-1320)ATC>ATG	p.I440M	SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	440					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGGTTCATTGATGGTTGGTG	0.383		NaN											0	0	0	0.00632	0	30	64				
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:85445395G>C	uc010rth.1	-	6	1250	c.974C>G	c.(973-975)TCC>TGC	p.S325C	SYTL2_uc010rtg.1_Missense_Mutation_p.S326C|SYTL2_uc010rti.1_Missense_Mutation_p.S325C|SYTL2_uc010rtj.1_Missense_Mutation_p.S277C|SYTL2_uc001pbf.3_Missense_Mutation_p.S325C|SYTL2_uc010rtf.1_Missense_Mutation_p.S183C	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	325					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448		NaN											0	0	0	0.009535	0	32	74				
OR8D2	283160	broad.mit.edu	37	11	124189263	124189263	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:124189263G>A	uc010sah.1	-	1	831	c.831C>T	c.(829-831)TTC>TTT	p.F277F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTGTGATGTAGAACACAGAAG	0.423		NaN											0	0	0	0.013726	0	33	54				
KCNJ1	3758	broad.mit.edu	37	11	128709677	128709677	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr11:128709677G>C	uc001qeo.1	-	2	570	c.519C>G	c.(517-519)TTC>TTG	p.F173L	KCNJ1_uc001qep.1_Missense_Mutation_p.F154L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F154L|KCNJ1_uc001qer.1_Missense_Mutation_p.F154L|KCNJ1_uc001qes.1_Missense_Mutation_p.F154L	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	173	Helical; Name=M2; (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CCCCACACATGAAAGAATTGA	0.458		NaN											0	0	0	0.019004	0	36	51				
CHD4	1108	broad.mit.edu	37	12	6700750	6700750	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:6700750C>T	uc001qpo.2	-	22	3387	c.3223_splice	c.e22-1	p.M1075_splice	CHD4_uc001qpn.2_Splice_Site_p.M1068_splice|CHD4_uc001qpp.2_Splice_Site_p.M1072_splice	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTTGGTCATCTGCAAAAGAA	0.453		NaN											0	0	0	0.01441	0	67	89				
DENND5B	160518	broad.mit.edu	37	12	31605240	31605240	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:31605240C>G	uc001rki.1	-	5	1449	c.1263G>C	c.(1261-1263)AAG>AAC	p.K421N	DENND5B_uc001rkh.1_Missense_Mutation_p.K456N|DENND5B_uc009zjq.1_Missense_Mutation_p.K340N|DENND5B_uc001rkj.2_Missense_Mutation_p.K443N|DENND5B_uc001rkk.1_Missense_Mutation_p.K343N	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	421						integral to membrane				ovary(1)|central_nervous_system(1)	2						GAACCATATTCTTCAGTTTGC	0.408		NaN											0	0	0	0.012213	0	31	52				
LRRK2	120892	broad.mit.edu	37	12	40699617	40699617	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:40699617C>T	uc001rmg.3	+	28	3929	c.3808C>T	c.(3808-3810)CTG>TTG	p.L1270L	LRRK2_uc009zjw.2_Silent_p.L108L|LRRK2_uc001rmi.2_Silent_p.L103L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1270	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTTGAAAATCTGACATCTCT	0.403		NaN											0	0	0	0.008871	0	20	32				
MLL2	8085	broad.mit.edu	37	12	49434621	49434621	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:49434621G>A	uc001rta.3	-	31	6932	c.6932C>T	c.(6931-6933)TCC>TTC	p.S2311F		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2311	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGTGCCTGAGGAGGGTGAGTC	0.612		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.024245	0	16	23		Valid		
SMARCC2	6601	broad.mit.edu	37	12	56563943	56563943	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:56563943C>G	uc001skb.2	-	22	2410	c.2304G>C	c.(2302-2304)GAG>GAC	p.E768D	SMARCC2_uc001skd.2_Missense_Mutation_p.E799D|SMARCC2_uc001ska.2_Missense_Mutation_p.E799D|SMARCC2_uc001skc.2_Missense_Mutation_p.E798D|SMARCC2_uc010sqf.1_Missense_Mutation_p.E688D	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	768	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTCCTTCTTCTCATCTGTGG	0.537		NaN											0	0	0	0.013537	0	11	26		Valid		
SLC39A5	283375	broad.mit.edu	37	12	56629471	56629471	+	Missense_Mutation	SNP	G	G	C	rs145666015		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:56629471G>C	uc010sqj.1	+	8	1189	c.932G>C	c.(931-933)CGA>CCA	p.R311P	SLC39A5_uc010sqi.1_Missense_Mutation_p.R202P|SLC39A5_uc010sqk.1_Missense_Mutation_p.R311P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	311	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TTGCGGCACCGAGGGCTCAGG	0.532		NaN											0	0	0	0.023175	0	41	86				
TMEM194A	23306	broad.mit.edu	37	12	57472433	57472433	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:57472433C>G	uc001smy.2	-	1	142	c.96G>C	c.(94-96)TTG>TTC	p.L32F	TMEM194A_uc001smx.2_Missense_Mutation_p.L32F|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	32	Helical; (Potential).					integral to membrane					0						CGGAGAGGATCAAGAGTAGCC	0.657		NaN											0	0	0	0.00499	0	15	35				
LRP1	4035	broad.mit.edu	37	12	57550665	57550665	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:57550665C>G	uc001snd.2	+	10	1989	c.1523C>G	c.(1522-1524)TCC>TGC	p.S508C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	508	EGF-like 3.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCTGCCGTTCCGGCTTCAGC	0.632		NaN											0	0	0	0.021553	0	5	13				
TBK1	29110	broad.mit.edu	37	12	64882283	64882283	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:64882283G>A	uc001ssc.1	+	12	1419	c.1357G>A	c.(1357-1359)GAT>AAT	p.D453N		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	453					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AATTAAAGATGATTACAATGA	0.269		NaN											0	0	0	0.00308	0	7	8				
RPL6	6128	broad.mit.edu	37	12	112843711	112843711	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:112843711C>T	uc001ttu.2	-	6	889	c.660G>A	c.(658-660)AAG>AAA	p.K220K	RPL6_uc001ttv.2_Silent_p.K220K	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	220					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1						TCCGCAGCTTCTTCTTCTTGA	0.423		NaN											0	0	0	0.028581	0	16	31				
TMEM120B	144404	broad.mit.edu	37	12	122199641	122199641	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:122199641C>G	uc001ubc.3	+	6	692	c.548C>G	c.(547-549)TCA>TGA	p.S183*	TMEM120B_uc009zxh.2_Nonsense_Mutation_p.S183*	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	183						integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGCAACGGCTCAAGGTACCTG	0.557		NaN											0	0	0	0.020292	0	14	31				
ZCCHC8	55596	broad.mit.edu	37	12	122962400	122962400	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:122962400C>G	uc001ucn.2	-	13	1464	c.1333G>C	c.(1333-1335)GAG>CAG	p.E445Q	ZCCHC8_uc001ucl.2_Missense_Mutation_p.E56Q|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E207Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	445						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAATCGAGCTCCATGTCGGCG	0.343		NaN											0	0	0	0.006214	0	10	14				
NCOR2	9612	broad.mit.edu	37	12	124821437	124821437	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:124821437G>A	uc010tay.1	-	40	6163	c.6007C>T	c.(6007-6009)CGC>TGC	p.R2003C	NCOR2_uc010taz.1_Missense_Mutation_p.R1987C|NCOR2_uc010tax.1_Missense_Mutation_p.R114C	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2004					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGGGTGCGGGCGATGGTG	0.731		NaN											0	0	0	0.00308	0	8	13		Valid		
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs28513925	by1000genomes	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.294		NaN											0	0	0	0.021553	0	6	36				
ZMYM5	9205	broad.mit.edu	37	13	20411884	20411884	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:20411884G>A	uc010tcn.1	-	6	1215	c.950C>T	c.(949-951)TCT>TTT	p.S317F	ZMYM5_uc001umm.1_Missense_Mutation_p.S141F|ZMYM5_uc001umn.2_Missense_Mutation_p.S317F|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	317	MYM-type 2.					nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AGACAAACAAGATGTACTATA	0.338		NaN											0	0	0	0.010729	0	10	48				
AKAP11	11215	broad.mit.edu	37	13	42874879	42874879	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:42874879C>T	uc001uys.1	+	8	2172	c.1997C>T	c.(1996-1998)TCA>TTA	p.S666L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	666					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGTCAGTTTTCATATCCTCAA	0.403		NaN											0	0	0	0.00632	0	29	78				
MLNR	2862	broad.mit.edu	37	13	49796426	49796426	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:49796426G>A	uc010tgj.1	+	2	1152	c.1152G>A	c.(1150-1152)AGG>AGA	p.R384R		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	384	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		ACAGAAGCAGGGACACTGCGG	0.567		NaN											0	0	0	0.00499	0	18	39				
RAP2A	5911	broad.mit.edu	37	13	98116619	98116619	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr13:98116619G>A	uc001vnd.2	+	2	725	c.475G>A	c.(475-477)GAA>AAA	p.E159K		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	159					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACTCTTTGCAGAAATTGTGAG	0.478		NaN											0	0	0	0.027356	0	28	86				
MYH7	4625	broad.mit.edu	37	14	23884449	23884449	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:23884449C>G	uc001wjx.2	-	37	5420	c.5314G>C	c.(5314-5316)GAG>CAG	p.E1772Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1772	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGTCCTGCTCCTTCTTCAGC	0.602		NaN											0	0	0	0.021523	0	23	71				
NFATC4	4776	broad.mit.edu	37	14	24843541	24843541	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:24843541C>T	uc001wpc.2	+	6	2063	c.1742C>T	c.(1741-1743)TCA>TTA	p.S581L	NFATC4_uc010tok.1_Missense_Mutation_p.S644L|NFATC4_uc010tol.1_Missense_Mutation_p.S644L|NFATC4_uc010alr.2_Missense_Mutation_p.S644L|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Missense_Mutation_p.S594L|NFATC4_uc010ton.1_Missense_Mutation_p.S594L|NFATC4_uc010too.1_Missense_Mutation_p.S594L|NFATC4_uc010alt.2_Missense_Mutation_p.S613L|NFATC4_uc010top.1_Missense_Mutation_p.S613L|NFATC4_uc010toq.1_Missense_Mutation_p.S613L|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Missense_Mutation_p.S581L|NFATC4_uc010tos.1_Missense_Mutation_p.S511L|NFATC4_uc010tot.1_Missense_Mutation_p.S569L|NFATC4_uc010tou.1_Missense_Mutation_p.S511L|NFATC4_uc010tov.1_Missense_Mutation_p.S569L|NFATC4_uc010tow.1_Missense_Mutation_p.S511L|NFATC4_uc010alv.2_Missense_Mutation_p.S569L|NFATC4_uc010tox.1_Missense_Mutation_p.S511L|NFATC4_uc001wpd.2_Missense_Mutation_p.S116L|NFATC4_uc010toy.1_Missense_Mutation_p.S116L|NFATC4_uc010toz.1_Missense_Mutation_p.S116L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	581	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCCCAGCGCTCAGCCCAGGAG	0.642		NaN											0	0	0	0.001984	0	6	13				
HECTD1	25831	broad.mit.edu	37	14	31613367	31613367	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:31613367C>G	uc001wrc.1	-	17	3217	c.2728G>C	c.(2728-2730)GAA>CAA	p.E910Q	HECTD1_uc001wrd.1_Missense_Mutation_p.E425Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	910					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTACACATTTCATATGGTGAA	0.303		NaN											0	0	0	0.004482	0	8	16				
MIPOL1	145282	broad.mit.edu	37	14	37892073	37892073	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:37892073C>G	uc001wuc.2	+	12	1453	c.950C>G	c.(949-951)TCT>TGT	p.S317C	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286C|MIPOL1_uc001wud.2_Missense_Mutation_p.S317C|MIPOL1_uc010ams.2_Missense_Mutation_p.S317C|MIPOL1_uc001wue.2_Missense_Mutation_p.S286C|MIPOL1_uc010amt.2_Missense_Mutation_p.S136C	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	317	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAGTTGTTATCTATGCAACAA	0.323		NaN											0	0	0	0.004672	0	3	12				
PNN	5411	broad.mit.edu	37	14	39644553	39644553	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:39644553G>A	uc001wuw.3	+	1	167	c.70G>A	c.(70-72)GAG>AAG	p.E24K		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	24	Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAACGTGGATGAGAACATTCG	0.577		NaN											0	0	0	0.021553	0	5	20				
SLC38A6	145389	broad.mit.edu	37	14	61517300	61517300	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:61517300G>A	uc001xfg.1	+	13	1112	c.996G>A	c.(994-996)GTG>GTA	p.V332V	SLC38A6_uc001xfh.1_Silent_p.V332V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Silent_p.V309V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	332	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TCATGACTGTGAAGTTATGCA	0.343		NaN											0	0	0	0.010729	0	11	23				
SYNE2	23224	broad.mit.edu	37	14	64449432	64449432	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:64449432G>C	uc001xgm.2	+	17	2151	c.1921G>C	c.(1921-1923)GAT>CAT	p.D641H	SYNE2_uc001xgl.2_Missense_Mutation_p.D641H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	641	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCAGCAATGATGTGGTTGG	0.373		NaN											0	0	0	0.008361	0	30	43				
KCNK10	54207	broad.mit.edu	37	14	88693731	88693731	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:88693731C>T	uc001xwo.2	-	4	1111	c.654G>A	c.(652-654)GAG>GAA	p.E218E	KCNK10_uc001xwm.2_Silent_p.E223E|KCNK10_uc001xwn.2_Silent_p.E223E	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	218	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						GAAAGACCTTCTCCACTCTTG	0.428		NaN											0	0	0	0.008871	0	21	37				
KCNK10	54207	broad.mit.edu	37	14	88693853	88693853	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:88693853C>T	uc001xwo.2	-	4	989	c.532G>A	c.(532-534)GAA>AAA	p.E178K	KCNK10_uc001xwm.2_Missense_Mutation_p.E183K|KCNK10_uc001xwn.2_Missense_Mutation_p.E183K	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	178					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TTGCCTCCTTCAGTGCTCGGA	0.403		NaN											0	0	0	0.01892	0	25	63				
CDC42BPB	9578	broad.mit.edu	37	14	103416915	103416915	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr14:103416915G>T	uc001ymi.1	-	25	3429	c.3197C>A	c.(3196-3198)TCC>TAC	p.S1066Y	CDC42BPB_uc001ymj.1_Missense_Mutation_p.S168Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1066	Phorbol-ester/DAG-type.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCTTTGCAGGACACGTGGCA	0.572		NaN											1	0	1.96292e-10	0.010504	2.08956e-10	20	31				
TJP1	7082	broad.mit.edu	37	15	30019056	30019056	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:30019056G>A	uc001zcr.2	-	17	2715	c.2240C>T	c.(2239-2241)TCT>TTT	p.S747F	TJP1_uc010azl.2_Missense_Mutation_p.S735F|TJP1_uc001zcq.2_Missense_Mutation_p.S751F|TJP1_uc001zcs.2_Missense_Mutation_p.S747F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	747	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCCGAGATTCTGGACA	0.363		NaN											0	0	0	0.00874	0	42	67				
RYR3	6263	broad.mit.edu	37	15	34078093	34078093	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:34078093G>A	uc001zhi.2	+	66	9569	c.9499G>A	c.(9499-9501)GAA>AAA	p.E3167K	RYR3_uc010bar.2_Missense_Mutation_p.E3167K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3167					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTCACCTCTGAACACCTCAG	0.562		NaN											0	0	0	0.01441	0	57	88				
BUB1B	701	broad.mit.edu	37	15	40475992	40475992	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:40475992C>G	uc001zkx.3	+	6	871	c.659C>G	c.(658-660)TCT>TGT	p.S220C	BUB1B_uc010ucl.1_Missense_Mutation_p.S83C	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	220	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTTGAGTCTTCTGTACCACAA	0.448		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.021523	0	26	27				
SHC4	399694	broad.mit.edu	37	15	49148320	49148320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:49148320C>A	uc001zxb.1	-	8	1501	c.1072G>T	c.(1072-1074)GAG>TAG	p.E358*	SHC4_uc010uey.1_Nonsense_Mutation_p.E115*|SHC4_uc010uez.1_Nonsense_Mutation_p.E72*	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	358	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGCACCTCCTCACTGTGAAGG	0.428		NaN											1	0	4.47668e-21	0.021523	4.85955e-21	27	54				
HERC1	8925	broad.mit.edu	37	15	63908120	63908120	+	Splice_Site	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:63908120C>G	uc002amp.2	-	76	14090	c.13942_splice	c.e76-1	p.M4648_splice		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GAGGAATCATCTAGGAACAGA	0.358		NaN											0	0	0	0.004672	0	3	4				
ACAN	176	broad.mit.edu	37	15	89392692	89392692	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr15:89392692C>T	uc010upo.1	+	10	2130	c.1756C>T	c.(1756-1758)CTT>TTT	p.L586F	ACAN_uc002bmx.2_Missense_Mutation_p.L586F|ACAN_uc010upp.1_Missense_Mutation_p.L586F|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	586					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGCCACACGCCTTGAGCAGTT	0.632		NaN											0	0	0	0.001984	0	6	8				
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:3788651C>G	uc002cvv.2	-	26	4507	c.4303G>C	c.(4303-4305)GAT>CAT	p.D1435H	CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1435	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.D1435G(1)|p.D1435E(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.014758	0	5	10		Valid		
UBN1	29855	broad.mit.edu	37	16	4924401	4924401	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:4924401G>A	uc002cyb.2	+	15	2329	c.1990G>A	c.(1990-1992)GAC>AAC	p.D664N	UBN1_uc010uxw.1_Missense_Mutation_p.D664N|UBN1_uc002cyc.2_Missense_Mutation_p.D664N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	664					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ATTGGATGAAGACTTGATCCG	0.577		NaN											0	0	0	0.021022	0	40	102				
SMG1	23049	broad.mit.edu	37	16	18841068	18841068	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:18841068G>A	uc002dfm.2	-	54	9506	c.9143C>T	c.(9142-9144)TCA>TTA	p.S3048L	SMG1_uc010bwb.2_Missense_Mutation_p.S2908L|SMG1_uc010bwa.2_Missense_Mutation_p.S1779L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3048					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATCTTCAAGTGAACTTGATCC	0.323		NaN											0	0	0	0.020292	0	14	15				
RBL2	5934	broad.mit.edu	37	16	53524211	53524211	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:53524211G>A	uc002ehi.3	+	22	3537	c.3419G>A	c.(3418-3420)TGA>TAA	p.*1140*	RBL2_uc002ehj.2_Silent_p.*850*|RBL2_uc010vgw.1_Silent_p.*519*	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1140					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTCCCACTGAGGTTAGTCT	0.403		NaN											0	0	0	0.028581	0	16	36				
SLC9A5	6553	broad.mit.edu	37	16	67291253	67291253	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:67291253G>C	uc002esm.2	+	8	1404	c.1341G>C	c.(1339-1341)TTG>TTC	p.L447F	SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	447	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CATAGGGCTTGACCATCAAGC	0.542		NaN											0	0	0	0.013537	0	13	39				
KCTD19	146212	broad.mit.edu	37	16	67324842	67324842	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:67324842G>A	uc002esu.2	-	15	2664	c.2613C>T	c.(2611-2613)ATC>ATT	p.I871I	KCTD19_uc002est.2_Silent_p.I643I|KCTD19_uc010vjj.1_Silent_p.I614I	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	871						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGAAGCCGGTGATGGCCAGCA	0.617		NaN											0	0	0	0.021553	0	4	10				
PRMT7	54496	broad.mit.edu	37	16	68373809	68373809	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:68373809G>C	uc002evy.1	+	9	1141	c.865G>C	c.(865-867)GAG>CAG	p.E289Q	PRMT7_uc002evx.1_Missense_Mutation_p.E289Q|PRMT7_uc010vlg.1_Missense_Mutation_p.E239Q|PRMT7_uc002evz.1_Missense_Mutation_p.E135Q	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	289					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATGGACCCTGAGGGGAAGAT	0.572		NaN											0	0	0	0.028581	0	17	20				
PHLPP2	23035	broad.mit.edu	37	16	71718490	71718490	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:71718490C>G	uc002fax.2	-	4	630	c.624G>C	c.(622-624)AAG>AAC	p.K208N	PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Missense_Mutation_p.K208N|PHLPP2_uc002fay.1_Missense_Mutation_p.K208N	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	208	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ATTGCCGTCGCTTCACTTCTT	0.473		NaN											0	0	0	0.001984	0	7	18				
ZFHX3	463	broad.mit.edu	37	16	72831063	72831063	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:72831063G>C	uc002fck.2	-	9	6191	c.5518C>G	c.(5518-5520)CAG>GAG	p.Q1840E	ZFHX3_uc002fcl.2_Missense_Mutation_p.Q926E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1840					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGTGGGACCTGAACCTGAGCC	0.592		NaN											0	0	0	0.00632	0	30	37				
TMEM231	79583	broad.mit.edu	37	16	75579304	75579304	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:75579304C>G	uc002fem.2	-	4	591	c.528G>C	c.(526-528)CTG>CTC	p.L176L	CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L205L|TMEM231_uc002fel.2_Silent_p.L60L|TMEM231_uc010vne.1_Silent_p.L29L|TMEM231_uc010cgx.1_Silent_p.L140L	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 2	176						integral to membrane					0						GCTGCAGCCTCAGGTCTCCGT	0.542		NaN											0	0	0	0.01441	0	39	47				
KARS	3735	broad.mit.edu	37	16	75663370	75663370	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:75663370C>T	uc002feq.2	-	12	1542	c.1494G>A	c.(1492-1494)GCG>GCA	p.A498A	KARS_uc002fer.2_Silent_p.A526A|KARS_uc002fes.2_Silent_p.A342A	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	498					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	p.A498A(1)		ovary(2)	2					L-Lysine(DB00123)	GCTCAGTATACGCATTGCATA	0.517		NaN											0	0	0	0.019004	0	36	69				
SPIRE2	84501	broad.mit.edu	37	16	89929916	89929916	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr16:89929916G>C	uc002foz.1	+	11	1660	c.1608G>C	c.(1606-1608)CTG>CTC	p.L536L	SPIRE2_uc010ciw.1_Silent_p.L536L|SPIRE2_uc002fpa.1_Silent_p.L488L|SPIRE2_uc010cix.1_Silent_p.L403L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	536	Spir-box.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCCTGGCGCTGACTGTGGAAG	0.572		NaN											0	0	0	0.010729	0	11	24				
SRR	63826	broad.mit.edu	37	17	2222158	2222158	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:2222158G>C	uc002fue.1	+	4	402	c.334G>C	c.(334-336)GAC>CAC	p.D112H	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	112					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACAGCTCCAGACTGTAAAAA	0.423		NaN											0	0	0	0.01441	0	79	33				
ATP2A3	489	broad.mit.edu	37	17	3854917	3854917	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:3854917G>A	uc002fxb.1	-	4	433	c.282C>T	c.(280-282)ATC>ATT	p.I94I	ATP2A3_uc002fwx.1_Silent_p.I94I|ATP2A3_uc002fwy.1_Silent_p.I94I|ATP2A3_uc002fwz.1_Silent_p.I94I|ATP2A3_uc002fxa.1_Silent_p.I94I|ATP2A3_uc002fxc.1_Silent_p.I94I|ATP2A3_uc002fxd.1_Silent_p.I94I	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	94	Helical; Name=2; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGATCAGCATGATGACCAGGG	0.687		NaN											0	0	0	0.006214	0	9	4				
NCOR1	9611	broad.mit.edu	37	17	15960870	15960870	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15960870G>C	uc002gpo.2	-	40	6590	c.6350C>G	c.(6349-6351)TCA>TGA	p.S2117*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.S2014*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.S132*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.S637*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.S701*|NCOR1_uc010coy.2_Nonsense_Mutation_p.S1025*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.S927*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2117	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGAGACCCTTGAACCTGGTCT	0.408		NaN											0	0	0	0.015359	0	33	62		Valid		
NCOR1	9611	broad.mit.edu	37	17	15960927	15960927	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15960927G>A	uc002gpo.2	-	40	6533	c.6293C>T	c.(6292-6294)TCA>TTA	p.S2098L	NCOR1_uc002gpn.2_Missense_Mutation_p.S1995L|NCOR1_uc002gpl.2_Missense_Mutation_p.S113L|NCOR1_uc002gpm.2_Missense_Mutation_p.S618L|NCOR1_uc010vwb.1_Missense_Mutation_p.S682L|NCOR1_uc010coy.2_Missense_Mutation_p.S1006L|NCOR1_uc010vwc.1_Missense_Mutation_p.S908L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2098	Interaction with C1D (By similarity).|ID1 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACGGTTTGATGTTTTAGT	0.483		NaN											0	0	0	0.014323	0	22	50		Valid		
NCOR1	9611	broad.mit.edu	37	17	15961794	15961794	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:15961794G>C	uc002gpo.2	-	38	6241	c.6001C>G	c.(6001-6003)CAA>GAA	p.Q2001E	NCOR1_uc002gpn.2_Missense_Mutation_p.Q1898E|NCOR1_uc002gpl.2_5'Flank|NCOR1_uc002gpm.2_Missense_Mutation_p.Q521E|NCOR1_uc010vwb.1_Missense_Mutation_p.Q585E|NCOR1_uc010coy.2_Missense_Mutation_p.Q909E|NCOR1_uc010vwc.1_Missense_Mutation_p.Q811E	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2001	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCGCTTGATTTGCCTTA	0.413		NaN											0	0	0	0.00632	0	26	60		Valid		
RAI1	10743	broad.mit.edu	37	17	17700785	17700785	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:17700785C>T	uc002grm.2	+	3	4992	c.4523C>T	c.(4522-4524)TCC>TTC	p.S1508F	RAI1_uc002grn.1_Missense_Mutation_p.S1508F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1508						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCTGGCCTCCCAGCCCCCG	0.642		NaN											0	0	0	0.00632	0	29	6				
NLK	51701	broad.mit.edu	37	17	26518092	26518092	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:26518092G>C	uc010crj.2	+	9	1494	c.1282G>C	c.(1282-1284)GAT>CAT	p.D428H	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	428					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCTACCTAGATGAAGGGCG	0.438		NaN											0	0	0	0.014323	0	21	70				
SRCIN1	80725	broad.mit.edu	37	17	36704795	36704795	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:36704795C>G	uc002hqd.2	-	17	3493	c.3268G>C	c.(3268-3270)GAG>CAG	p.E1090Q	SRCIN1_uc002hqf.1_Missense_Mutation_p.E962Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.E944Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	962					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						TGACCTACCTCTAGCTCTGCG	0.662		NaN											0	0	0	0.010504	0	22	58				
ERBB2	2064	broad.mit.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	T	C	rs121913470		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:37880220T>C	uc002hso.2	+	19	2502	c.2264T>C	c.(2263-2265)TTG>TCG	p.L755S	ERBB2_uc002hsm.2_Missense_Mutation_p.L725S|ERBB2_uc010cwa.2_Missense_Mutation_p.L740S|ERBB2_uc002hsp.2_Missense_Mutation_p.L558S|ERBB2_uc010cwb.2_Missense_Mutation_p.L755S|ERBB2_uc010wek.1_Missense_Mutation_p.L479S	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	755	Cytoplasmic (Potential).|Protein kinase.		L -> P (in a lung adenocarcinoma sample; somatic mutation).		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L755S(4)|p.L755P(2)|p.L755_S760>A(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCAAAGTGTTGAGGGAAAAC	0.532	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.024245	0	16	22		Valid		
SLC25A39	51629	broad.mit.edu	37	17	42400878	42400878	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:42400878G>A	uc002ign.2	-	2	207	c.53C>T	c.(52-54)TCA>TTA	p.S18L	SLC25A39_uc002igm.2_Missense_Mutation_p.S18L|SLC25A39_uc002igo.2_Missense_Mutation_p.S18L|SLC25A39_uc010wiw.1_Missense_Mutation_p.S18L|SLC25A39_uc010czu.2_Intron|SLC25A39_uc010wix.1_Missense_Mutation_p.S18L|SLC25A39_uc010wiy.1_Missense_Mutation_p.S18L	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	18	Solcar 1.|Helical; Name=1; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCCGGTGCCTGAGGCCACCAT	0.607		NaN											0	0	0	0.004672	0	3	3				
TTLL6	284076	broad.mit.edu	37	17	46862467	46862467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:46862467C>A	uc010wlo.1	-	14	1893	c.1858G>T	c.(1858-1860)GAG>TAG	p.E620*	TTLL6_uc002iob.2_Nonsense_Mutation_p.E313*|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Nonsense_Mutation_p.E373*|TTLL6_uc002iod.2_Nonsense_Mutation_p.E467*	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	572						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						GTGGGAGCCTCCTGGTTGAGG	0.507		NaN											1	0	2.68985e-26	0.01441	2.92954e-26	49	100				
TTLL6	284076	broad.mit.edu	37	17	46862485	46862485	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:46862485C>T	uc010wlo.1	-	14	1875	c.1840G>A	c.(1840-1842)GAC>AAC	p.D614N	TTLL6_uc002iob.2_Missense_Mutation_p.D307N|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.D367N|TTLL6_uc002iod.2_Missense_Mutation_p.D461N	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	566						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						AGGCTGCTGTCTGTTTCATTT	0.512		NaN											0	0	0	0.013114	0	48	96				
SPOP	8405	broad.mit.edu	37	17	47688672	47688672	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:47688672C>G	uc010dbk.2	-	7	1260	c.628G>C	c.(628-630)GAA>CAA	p.E210Q	SPOP_uc002ipb.2_Missense_Mutation_p.E210Q|SPOP_uc002ipc.2_Missense_Mutation_p.E210Q|SPOP_uc002ipd.2_Missense_Mutation_p.E210Q|SPOP_uc002ipe.2_Missense_Mutation_p.E210Q|SPOP_uc002ipf.2_Missense_Mutation_p.E210Q|SPOP_uc002ipg.2_Missense_Mutation_p.E210Q	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	210	BTB.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						GCCTGGAATTCCTGGCCGGCA	0.453		NaN								Prostate(2;0.17)			0	0	0	0.01441	0	77	94				
NOG	9241	broad.mit.edu	37	17	54671875	54671875	+	Silent	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:54671875C>A	uc002iup.2	+	1	816	c.291C>A	c.(289-291)GGC>GGA	p.G97G		NM_005450	NP_005441	Q13253	NOGG_HUMAN	noggin precursor	97					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity				0	Breast(9;5.24e-08)					CAGCTGGGGGCGCGGAGGACC	0.647		NaN											1	0	0.000274275	0.004482	0.000282846	9	7				
C17orf71	55181	broad.mit.edu	37	17	57288781	57288781	+	Missense_Mutation	SNP	G	G	C	rs5821255		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:57288781G>C	uc002ixi.2	+	1	1411	c.1369G>C	c.(1369-1371)GAG>CAG	p.E457Q		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	457					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAAACTGTATGAGGTGGCTAT	0.438		NaN											0	0	0	0.009718	0	44	64				
USP32	84669	broad.mit.edu	37	17	58288867	58288867	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:58288867C>G	uc002iyo.1	-	20	2474	c.2188G>C	c.(2188-2190)GAA>CAA	p.E730Q	USP32_uc002iyn.1_Missense_Mutation_p.E400Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	730					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTCCCTTTTCTGTGGGAACT	0.383		NaN											0	0	0	0.009718	0	39	126				
USP32	84669	broad.mit.edu	37	17	58289433	58289433	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:58289433C>G	uc002iyo.1	-	19	2417	c.2131G>C	c.(2131-2133)GAG>CAG	p.E711Q	USP32_uc002iyn.1_Missense_Mutation_p.E381Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	711					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GACATCTCCTCAGGCCAACTC	0.289		NaN											0	0	0	0.010729	0	10	43				
INTS2	57508	broad.mit.edu	37	17	59946642	59946642	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:59946642C>G	uc002izn.2	-	22	3230	c.3154G>C	c.(3154-3156)GAG>CAG	p.E1052Q	INTS2_uc002izm.2_Missense_Mutation_p.E1044Q	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1052					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						ACCTGTTTCTCAAGTTCTGGC	0.378		NaN											0	0	0	0.016723	0	14	14				
TANC2	26115	broad.mit.edu	37	17	61499280	61499280	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:61499280C>G	uc002jal.3	+	25	5960	c.5937C>G	c.(5935-5937)ATC>ATG	p.I1979M	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.I1090M	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1979							binding			ovary(2)	2						CATCCCCTATCAAACCAAAGA	0.498		NaN											0	0	0	0.024334	0	28	40				
MFSD11	79157	broad.mit.edu	37	17	74737112	74737112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:74737112C>T	uc002jta.2	+	4	1199	c.226C>T	c.(226-228)CAA>TAA	p.Q76*	MFSD11_uc002jtb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc010dha.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtc.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtd.3_Nonsense_Mutation_p.Q76*|MFSD11_uc010dhb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jte.2_Nonsense_Mutation_p.Q76*	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	76	Helical; (Potential).					integral to membrane				ovary(1)	1						TGTAGGACCTCAACTCTCTAT	0.373		NaN											0	0	0	0.01441	0	58	96				
RNF213	57674	broad.mit.edu	37	17	78318559	78318559	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:78318559G>A	uc002jyh.1	+	4	866	c.643G>A	c.(643-645)GAG>AAG	p.E215K		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATAGACATGGAGCTGAGTGC	0.488		NaN											0	0	0	0.01441	0	81	125				
SLC14A1	6563	broad.mit.edu	37	18	43328388	43328388	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:43328388G>C	uc010xcn.1	+	10	1313	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	SLC14A1_uc010dnk.2_Missense_Mutation_p.E388Q|SLC14A1_uc002lbf.3_Missense_Mutation_p.E332Q|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.E227Q|SLC14A1_uc002lbh.3_Missense_Mutation_p.E224Q|SLC14A1_uc002lbi.3_Missense_Mutation_p.E200Q|SLC14A1_uc002lbj.3_Missense_Mutation_p.E388Q|SLC14A1_uc002lbk.3_Missense_Mutation_p.E332Q	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	332						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CTTTATGGCTGAGGTGAGTTT	0.448		NaN											0	0	0	0.014323	0	24	52				
SERPINB8	5271	broad.mit.edu	37	18	61647088	61647088	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:61647088C>T	uc002ljv.2	+	3	391	c.222C>T	c.(220-222)CTC>CTT	p.L74L	SERPINB8_uc002ljs.1_Silent_p.L74L|SERPINB8_uc002ljt.2_Silent_p.L74L|SERPINB8_uc002lju.2_Silent_p.L74L|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	74					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				AGTCACTTCTCAGTGAAGTTA	0.418		NaN									OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.027894	0	40	71				
SOCS6	9306	broad.mit.edu	37	18	67992983	67992983	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr18:67992983C>T	uc002lkr.1	+	2	1395	c.1079C>T	c.(1078-1080)TCA>TTA	p.S360L	SOCS6_uc010dqq.2_Missense_Mutation_p.S360L	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	360					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTTTATGACTCAGTGCAAAGT	0.493		NaN											0	0	0	0.020292	0	15	37				
MIDN	90007	broad.mit.edu	37	19	1255046	1255046	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:1255046C>G	uc002lrp.2	+	6	1357	c.842C>G	c.(841-843)TCA>TGA	p.S281*		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	281						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCTTCTCAGGGACCTTC	0.637		NaN											0	0	0	0.008871	0	18	65				
LRG1	116844	broad.mit.edu	37	19	4538815	4538815	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:4538815C>T	uc002mau.2	-	2	192	c.181G>A	c.(181-183)GAA>AAA	p.E61K	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	61						extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGATTTCGGCAGGTGGT	0.637		NaN											0	0	0	0.021553	0	6	61				
KRI1	65095	broad.mit.edu	37	19	10670361	10670361	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:10670361G>C	uc002moy.1	-	11	978	c.969C>G	c.(967-969)ATC>ATG	p.I323M	KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.I319M	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	323	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGGAGGACGCGATGCTGCGTG	0.617		NaN											0	0	0	0.00499	0	17	49				
NOTCH3	4854	broad.mit.edu	37	19	15281188	15281188	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:15281188G>A	uc002nan.2	-	27	5144	c.5068C>T	c.(5068-5070)CAC>TAC	p.H1690Y		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1690	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGCCCTTGTGACCAGAGGCC	0.657		NaN											0	0	0	0.024245	0	15	32				
NWD1	284434	broad.mit.edu	37	19	16902160	16902160	+	Splice_Site	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:16902160G>C	uc002neu.3	+	14	3363	c.2941_splice	c.e14-1	p.I981_splice	NWD1_uc002net.3_Splice_Site_p.I846_splice|NWD1_uc002nev.3_Splice_Site_p.I775_splice			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;								ATP binding			skin(3)|ovary(2)|pancreas(2)	7						TATTCTATTAGATCAATGCTT	0.483		NaN											0	0	0	0.010818	0	31	69				
ZNF430	80264	broad.mit.edu	37	19	21240308	21240308	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:21240308G>C	uc002npj.2	+	5	1304	c.1194G>C	c.(1192-1194)GAG>GAC	p.E398D	ZNF430_uc002npk.2_Missense_Mutation_p.E397D	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						ATACTGGAGAGAAATTCTACA	0.353		NaN											0	0	0	0.006214	0	10	46				
C19orf40	91442	broad.mit.edu	37	19	33467384	33467384	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:33467384G>A	uc002nud.3	+	5	562	c.444G>A	c.(442-444)AAG>AAA	p.K148K		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	148					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TTCTCGGGAAGAAACGGGCCC	0.547		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	29	68				
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:39104548G>A	uc002oix.1	-	8	613	c.505C>T	c.(505-507)CGC>TGC	p.R169C	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627		NaN											0	0	0	0.001984	0	7	16				
SUPT5H	6829	broad.mit.edu	37	19	39955605	39955605	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:39955605C>G	uc002olo.3	+	11	971	c.792C>G	c.(790-792)CTC>CTG	p.L264L	SUPT5H_uc002olp.3_Silent_p.L264L|SUPT5H_uc002olq.3_Silent_p.L260L|SUPT5H_uc002oln.3_Silent_p.L264L|SUPT5H_uc002olr.3_Silent_p.L264L|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	264	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGACGTGCTCAAAGTGGTGA	0.602		NaN											0	0	0	0.010504	0	22	71				
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:40316442T>G	uc002omj.2	-	11	2083	c.1803A>C	c.(1801-1803)CCA>CCC	p.P601P	DYRK1B_uc002omi.2_Silent_p.P573P|DYRK1B_uc002omk.2_Silent_p.P561P	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	601					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716		NaN											0	0	0	0.001984	0	5	8				
PVR	5817	broad.mit.edu	37	19	45157217	45157217	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:45157217G>A	uc002ozm.2	+	4	1072	c.773G>A	c.(772-774)GGC>GAC	p.G258D	PVR_uc010ejs.2_Missense_Mutation_p.G258D|PVR_uc010xxb.1_Missense_Mutation_p.G258D|PVR_uc010xxc.1_Missense_Mutation_p.G258D|PVR_uc002ozn.2_Missense_Mutation_p.G203D	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	258	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGTACCTTGGCCAGAATGAG	0.493		NaN											0	0	0	0.01441	0	88	71				
FOSB	2354	broad.mit.edu	37	19	45976195	45976195	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:45976195C>T	uc002pbx.3	+	4	1534	c.942C>T	c.(940-942)TTC>TTT	p.F314F	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	314					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCTCCGCGTTCGCCGGCGCCC	0.577		NaN											0	0	0	0.012319	0	22	66				
SLC8A2	6543	broad.mit.edu	37	19	47969393	47969393	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:47969393C>T	uc002pgx.2	-	2	546	c.268G>A	c.(268-270)GCC>ACC	p.A90T	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.A90T	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	90	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAACGGTCGGCGATGATGGAC	0.597		NaN											0	0	0	0.010504	0	20	41				
FUZ	80199	broad.mit.edu	37	19	50310577	50310577	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:50310577C>G	uc002ppq.1	-	11	1193	c.1088G>C	c.(1087-1089)AGA>ACA	p.R363T	FUZ_uc002ppr.1_Missense_Mutation_p.R263T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.R327T|FUZ_uc002ppv.1_Missense_Mutation_p.R313T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	363	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTAGCAAGCTCTGGGCAGCTG	0.607		NaN											0	0	0	0.014758	0	5	25				
ETFB	2109	broad.mit.edu	37	19	51857428	51857428	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:51857428G>A	uc002pwh.2	-	2	284	c.192C>T	c.(190-192)GTC>GTT	p.V64V	ETFB_uc002pwg.2_Silent_p.V155V	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	64					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GCCCACAGCTGACGGCGATGA	0.428		NaN											0	0	0	0.008291	0	11	26				
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:51957546G>A	uc002pwt.2	-	6	1239	c.1172C>T	c.(1171-1173)TCG>TTG	p.S391L	SIGLEC8_uc010yda.1_Missense_Mutation_p.S282L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S298L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	391	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597		NaN											0	0	0	0.010504	0	19	68				
ZNF83	55769	broad.mit.edu	37	19	53116563	53116563	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:53116563G>A	uc002pzu.3	-	2	2499	c.1255C>T	c.(1255-1257)CAT>TAT	p.H419Y	ZNF83_uc002pzv.3_Missense_Mutation_p.H419Y|ZNF83_uc010eps.2_Missense_Mutation_p.H391Y|ZNF83_uc010ept.2_Missense_Mutation_p.H419Y|ZNF83_uc010epu.2_Missense_Mutation_p.H419Y|ZNF83_uc010epv.2_Missense_Mutation_p.H419Y|ZNF83_uc010epw.2_Missense_Mutation_p.H419Y|ZNF83_uc010epx.2_Missense_Mutation_p.H391Y|ZNF83_uc010epy.2_Missense_Mutation_p.H419Y|ZNF83_uc010epz.2_Missense_Mutation_p.H391Y	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	419	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ATTCTCCAATGATATGCAAGG	0.373		NaN											0	0	0	0.00632	0	28	100				
ZNF665	79788	broad.mit.edu	37	19	53678789	53678789	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:53678789G>A	uc010eqm.1	-	3	151	c.51C>T	c.(49-51)TTC>TTT	p.F17F		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	Error:Variant_position_missing_in_Q9H7R5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		CCTCCTGAGAGAATTCTATGG	0.438		NaN											0	0	0	0.027356	0	26	100				
TMC4	147798	broad.mit.edu	37	19	54666454	54666454	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:54666454T>A	uc010erf.2	-	10	1604	c.1472A>T	c.(1471-1473)GAT>GTT	p.D491V	TMC4_uc002qdn.2_Missense_Mutation_p.D205V|TMC4_uc002qdo.2_Missense_Mutation_p.D485V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	491	Helical; (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGTCAGCAGATCAAAGAGCAG	0.567		NaN											0	0	0	0.010729	0	11	9				
USP29	57663	broad.mit.edu	37	19	57642078	57642078	+	Missense_Mutation	SNP	G	G	A	rs143453181		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:57642078G>A	uc002qny.2	+	4	2391	c.2035G>A	c.(2035-2037)GAG>AAG	p.E679K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	679					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGCTTGTCGAGGTTCATCT	0.468		NaN											0	0	0	0.006214	0	9	50				
ZSCAN1	284312	broad.mit.edu	37	19	58549427	58549427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:58549427G>T	uc002qrc.1	+	3	470	c.223G>T	c.(223-225)GAG>TAG	p.E75*	ZSCAN1_uc002qra.1_Nonsense_Mutation_p.E75*|ZSCAN1_uc002qrb.1_Nonsense_Mutation_p.E75*	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCGCTCCAAGGAGCAGATGCT	0.706		NaN											1	0	0.00116845	0.021553	0.00119008	5	19				
ZBTB45	84878	broad.mit.edu	37	19	59028629	59028629	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:59028629T>G	uc002qtd.2	-	2	704	c.412A>C	c.(412-414)ACC>CCC	p.T138P	ZBTB45_uc002qte.2_Missense_Mutation_p.T138P|ZBTB45_uc002qtf.2_Missense_Mutation_p.T138P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	138	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGCACAGGGGTGGGCAGGGGC	0.716		NaN									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	6	3				
TRIM28	10155	broad.mit.edu	37	19	59057194	59057194	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr19:59057194C>T	uc002qtg.1	+	3	806	c.517C>T	c.(517-519)CTG>TTG	p.L173L	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	173	RBCC domain.|B box-type 1; atypical.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCGGAGCCTCTGTGTGAGAC	0.572		NaN											0	0	0	0.016723	0	13	36				
OTOF	9381	broad.mit.edu	37	2	26739408	26739408	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:26739408G>A	uc002rhk.2	-	5	514	c.387C>T	c.(385-387)GAC>GAT	p.D129D	OTOF_uc010ylb.1_RNA	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	129	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCCCCATCGTCCCAGGAGC	0.647		NaN											0	0	0	0.009096	0	4	50				
CCDC121	79635	broad.mit.edu	37	2	27850502	27850502	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:27850502C>T	uc002rle.2	-	2	346	c.165G>A	c.(163-165)GAG>GAA	p.E55E	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Silent_p.E219E|CCDC121_uc002rld.2_Silent_p.E217E|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	55											0	Acute lymphoblastic leukemia(172;0.155)					TCCATACCTTCTCAGGTTGCT	0.408		NaN											0	0	0	0.01441	0	64	110				
PPP1CB	5500	broad.mit.edu	37	2	29001877	29001877	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:29001877C>G	uc002rmg.2	+	4	547	c.387C>G	c.(385-387)ATC>ATG	p.I129M	PPP1CB_uc010ymj.1_Missense_Mutation_p.I101M|PPP1CB_uc010ymk.1_Missense_Mutation_p.I101M|PPP1CB_uc010yml.1_Missense_Mutation_p.I101M|PPP1CB_uc002rmh.2_Missense_Mutation_p.I129M	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	129					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGCTAGCATCAATCGCATTT	0.328		NaN											0	0	0	0.020292	0	15	31				
VIT	5212	broad.mit.edu	37	2	36994239	36994239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:36994239G>T	uc002rpl.2	+	7	711	c.490G>T	c.(490-492)GAG>TAG	p.E164*	VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Nonsense_Mutation_p.E157*|VIT_uc010ezv.2_Nonsense_Mutation_p.E157*|VIT_uc010ezw.2_Nonsense_Mutation_p.E157*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	164						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TCTTACAGGTGAGACCACAAA	0.448		NaN											1	0	1.05317e-09	0.020292	1.11751e-09	13	12				
LHCGR	3973	broad.mit.edu	37	2	48915216	48915216	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:48915216G>A	uc002rwu.3	-	11	1790	c.1720C>T	c.(1720-1722)CTC>TTC	p.L574F	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	574	Helical; Name=6; (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGAAGATGAGGATTGCCATT	0.363		NaN							Familial_Male-Limited_Precocious_Puberty				0	0	0	0.025465	0	41	64				
NRXN1	9378	broad.mit.edu	37	2	50724724	50724724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:50724724C>A	uc010fbq.2	-	14	4223	c.2746G>T	c.(2746-2748)GGA>TGA	p.G916*	NRXN1_uc002rxb.3_Nonsense_Mutation_p.G548*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.G876*|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	239	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATGCCATTCCATTAAATGTC	0.438		NaN											1	0	0.00448238	0.004482	0.00455134	9	28				
EFEMP1	2202	broad.mit.edu	37	2	56144869	56144869	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:56144869G>A	uc002rzh.2	-	4	778	c.448C>T	c.(448-450)CCC>TCC	p.P150S	EFEMP1_uc002rzi.2_Missense_Mutation_p.P150S|EFEMP1_uc002rzj.2_Missense_Mutation_p.P150S|EFEMP1_uc010ypc.1_Missense_Mutation_p.P92S	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	150					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTTGGAGGGAATGCGCTGA	0.527		NaN											0	0	0	0.013114	0	47	55				
PLEK	5341	broad.mit.edu	37	2	68607462	68607462	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:68607462G>C	uc002sen.3	+	2	207	c.45G>C	c.(43-45)GGG>GGC	p.G15G	PLEK_uc010fde.2_Silent_p.G15G	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	15	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CATTACAGGGGAGCGTGTTCA	0.398		NaN											0	0	0	0.004482	0	9	25				
ARHGAP25	9938	broad.mit.edu	37	2	69046289	69046289	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:69046289G>C	uc002seu.2	+	9	1399	c.1035G>C	c.(1033-1035)ATG>ATC	p.M345I	ARHGAP25_uc010fdg.2_Missense_Mutation_p.M346I|ARHGAP25_uc010yql.1_Missense_Mutation_p.M306I|ARHGAP25_uc002sev.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sew.2_Missense_Mutation_p.M338I|ARHGAP25_uc002sex.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sey.2_Missense_Mutation_p.M72I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	345	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TGACTATGATGATCAGAGACC	0.498		NaN											0	0	0	0.01441	0	54	95				
SMPD4	55627	broad.mit.edu	37	2	130910919	130910919	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:130910919G>A	uc002tqq.1	-	18	2635	c.2115C>T	c.(2113-2115)CTC>CTT	p.L705L	SMPD4_uc002tqo.1_Silent_p.L237L|SMPD4_uc002tqp.1_Silent_p.L444L|SMPD4_uc010yzy.1_Silent_p.L454L|SMPD4_uc010yzz.1_Silent_p.L369L|SMPD4_uc002tqr.1_Silent_p.L676L|SMPD4_uc002tqs.1_Silent_p.L573L|SMPD4_uc002tqt.1_Silent_p.L554L|SMPD4_uc010zaa.1_Silent_p.L563L|SMPD4_uc010zab.1_Silent_p.L603L|SMPD4_uc010zac.1_Silent_p.L446L|SMPD4_uc010zad.1_Silent_p.L341L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	666					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGTAAGGATGAGTCCGTCCT	0.642		NaN											0	0	0	0.013537	0	13	28				
RAB3GAP1	22930	broad.mit.edu	37	2	135911282	135911282	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:135911282G>A	uc002tuj.2	+	19	2150	c.2125G>A	c.(2125-2127)GAA>AAA	p.E709K	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E709K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E534K|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	709						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		GGATTATATTGAAGAGGAGGT	0.438		NaN											0	0	0	0.012319	0	22	48				
ARL6IP6	151188	broad.mit.edu	37	2	153575496	153575496	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:153575496C>G	uc002tyn.2	+	1	1074	c.358C>G	c.(358-360)CTT>GTT	p.L120V	ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	120	Helical; (Potential).					integral to membrane					0						CTTCGCCATTCTTCTCGCCTT	0.592		NaN											0	0	0	0.00499	0	15	41				
GRB14	2888	broad.mit.edu	37	2	165404308	165404308	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:165404308C>T	uc002ucl.2	-	3	884	c.343G>A	c.(343-345)GAA>AAA	p.E115K	GRB14_uc010zcv.1_Missense_Mutation_p.E28K|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	115	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						GTTTCATCTTCACTGTATACT	0.328		NaN											0	0	0	0.004482	0	9	24				
RAPGEF4	11069	broad.mit.edu	37	2	173891911	173891911	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:173891911G>A	uc002uhv.3	+	25	2669	c.2482G>A	c.(2482-2484)GTC>ATC	p.V828I	RAPGEF4_uc002uhw.3_Missense_Mutation_p.V684I	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	828	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTTTTGGGTCGTCACTGAGAT	0.368		NaN											0	0	0	0.006122	0	18	37				
TTN	7273	broad.mit.edu	37	2	179455032	179455032	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:179455032G>A	uc010zfg.1	-	253	53940	c.53716C>T	c.(53716-53718)CCA>TCA	p.P17906S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11601S|TTN_uc010zfi.1_Missense_Mutation_p.P11534S|TTN_uc010zfj.1_Missense_Mutation_p.P11409S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18833							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTTCTGGAGGATGAAGG	0.428		NaN											0	0	0	0.00632	0	29	62				
NCKAP1	10787	broad.mit.edu	37	2	183800087	183800087	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:183800087C>G	uc002upc.2	-	25	3114	c.2712G>C	c.(2710-2712)TTG>TTC	p.L904F	NCKAP1_uc002upb.2_Missense_Mutation_p.L910F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	904					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCCTCTTCAAGACACTGT	0.328		NaN											0	0	0	0.012319	0	22	31				
ZNF804A	91752	broad.mit.edu	37	2	185803013	185803013	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:185803013T>C	uc002uph.2	+	4	3484	c.2890T>C	c.(2890-2892)TCA>CCA	p.S964P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	964						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CTTTAGACAGTCACAGCCTAA	0.393		NaN											0	0	0	0.021523	0	26	65				
PLCL1	5334	broad.mit.edu	37	2	198948687	198948687	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:198948687C>T	uc010fsp.2	+	2	737	c.446C>T	c.(445-447)TCA>TTA	p.S149L	PLCL1_uc002uuv.3_Missense_Mutation_p.S70L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	149	PH.|Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TGGGAACCTTCAAAGAAAGAC	0.448		NaN											0	0	0	0.008871	0	19	40				
FAM126B	285172	broad.mit.edu	37	2	201873710	201873710	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr2:201873710G>A	uc002uws.3	-	7	704	c.516C>T	c.(514-516)TTC>TTT	p.F172F	FAM126B_uc002uwu.2_Silent_p.F90F|FAM126B_uc002uwv.2_Silent_p.F172F|FAM126B_uc002uww.1_Silent_p.F172F	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	172						intracellular				ovary(1)	1						TCTGTGCAGTGAATGTTTCCC	0.299		NaN											0	0	0	0.020292	0	14	29				
PANK2	80025	broad.mit.edu	37	20	3888748	3888748	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr20:3888748C>T	uc002wkc.2	+	2	810	c.804C>T	c.(802-804)CTC>CTT	p.L268L	PANK2_uc002wkb.2_5'UTR|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'UTR|PANK2_uc002wkf.2_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	268					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						ACGTGCACCTCGAGCTGAAGG	0.478		NaN											0	0	0	0.016723	0	14	59				
C20orf94	128710	broad.mit.edu	37	20	10603663	10603663	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr20:10603663G>A	uc010zre.1	+	8	1043	c.863G>A	c.(862-864)CGA>CAA	p.R288Q		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	288							protein binding				0						CAAAGTCCACGAGTGGCCAAA	0.527		NaN											0	0	0	0.016522	0	22	46				
TTC3	7267	broad.mit.edu	37	21	38510991	38510991	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:38510991C>G	uc002yvz.2	+	19	1741	c.1636C>G	c.(1636-1638)CTC>GTC	p.L546V	TTC3_uc011aee.1_Missense_Mutation_p.L236V|TTC3_uc002ywa.2_Missense_Mutation_p.L546V|TTC3_uc002ywb.2_Missense_Mutation_p.L546V|TTC3_uc010gnf.2_Missense_Mutation_p.L311V|TTC3_uc002ywc.2_Missense_Mutation_p.L236V|TTC3_uc011aed.1_Missense_Mutation_p.L236V|TTC3_uc010gne.1_Missense_Mutation_p.L546V	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	546	TPR 3.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TGCCATTTCTCTCCTTGGAAT	0.308		NaN											0	0	0	0.012213	0	31	64				
UMODL1	89766	broad.mit.edu	37	21	43541202	43541202	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:43541202G>A	uc002zaf.1	+	16	2695	c.2695G>A	c.(2695-2697)GAT>AAT	p.D899N	UMODL1_uc002zad.1_Missense_Mutation_p.D827N|UMODL1_uc002zae.1_Missense_Mutation_p.D955N|UMODL1_uc002zag.1_Missense_Mutation_p.D1027N|UMODL1_uc002zal.1_5'UTR	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	899	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGCAGATTACGATGAGTGTGA	0.537		NaN											0	0	0	0.010504	0	21	61				
COL18A1	80781	broad.mit.edu	37	21	46888254	46888254	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr21:46888254G>A	uc011afs.1	+	2	1471	c.1450G>A	c.(1450-1452)GTC>ATC	p.V484I	COL18A1_uc002zhg.2_Missense_Mutation_p.V69I|COL18A1_uc002zhi.2_Missense_Mutation_p.V249I	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	484	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCTGGCCTACGTCTTTGGGCC	0.657		NaN											0	0	0	0.013726	0	32	53				
ARVCF	421	broad.mit.edu	37	22	19960296	19960296	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:19960296C>T	uc002zqz.2	-	16	2876	c.2605G>A	c.(2605-2607)GAT>AAT	p.D869N	ARVCF_uc002zqy.2_Missense_Mutation_p.D385N	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	869					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GTGCTGTCATCGAAGCCCCCA	0.602		NaN											0	0	0	0.004482	0	9	26				
TRMT2A	27037	broad.mit.edu	37	22	20100722	20100722	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:20100722C>T	uc002zrk.1	-	11	1683	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E490K|TRMT2A_uc002zrm.1_Missense_Mutation_p.E312K|TRMT2A_uc002zrn.1_Missense_Mutation_p.E508K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	490					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						ACCAGGTCCTCGGCCCTCCCG	0.647		NaN											0	0	0	0.007413	0	19	21				
RTDR1	27156	broad.mit.edu	37	22	23406202	23406202	+	Silent	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:23406202G>T	uc002zwt.2	-	5	689	c.531C>A	c.(529-531)CTC>CTA	p.L177L		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	177							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTGCAGGCAGAGGACCAGTG	0.582		NaN											1	0	2.0095e-06	0.001984	2.09191e-06	7	16				
DNAL4	10126	broad.mit.edu	37	22	39178724	39178724	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:39178724C>G	uc003awj.2	-	2	241	c.13G>C	c.(13-15)GAA>CAA	p.E5Q	SUN2_uc010gxr.1_Intron	NM_005740	NP_005731	O96015	DNAL4_HUMAN	dynein light chain 4, axonemal	5					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity				0	Melanoma(58;0.04)					TTCTTCCCTTCTGTTTCTCCC	0.572		NaN											0	0	0	0.006214	0	10	30				
FAM118A	55007	broad.mit.edu	37	22	45728377	45728377	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:45728377G>T	uc003bfz.3	+	7	1339	c.723G>T	c.(721-723)CAG>CAT	p.Q241H	FAM118A_uc003bga.3_Missense_Mutation_p.Q241H|FAM118A_uc011aqr.1_Missense_Mutation_p.Q59H	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	241						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTCGTGATCAGATATTCCAGG	0.463		NaN											1	0	3.78316e-11	0.025465	4.04027e-11	42	67				
BRD1	23774	broad.mit.edu	37	22	50187866	50187866	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:50187866G>A	uc003biv.2	-	6	2662	c.2175C>T	c.(2173-2175)CTC>CTT	p.L725L	BRD1_uc011arf.1_Silent_p.L320L|BRD1_uc011arg.1_Silent_p.L774L|BRD1_uc011arh.1_Silent_p.L725L|BRD1_uc003biu.3_Silent_p.L725L	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	725					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGTGAGGTCGAGCATGTCCA	0.597		NaN											0	0	0	0.006122	0	17	32				
PLXNB2	23654	broad.mit.edu	37	22	50727555	50727555	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr22:50727555A>G	uc003bkv.3	-	4	1191	c.1085T>C	c.(1084-1086)TTC>TCC	p.F362S		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	362	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCACATGGGAAGCTCTTGCT	0.687		NaN											0	0	0	0.004672	0	3	10				
GRM7	2917	broad.mit.edu	37	3	7503406	7503406	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:7503406C>G	uc003bqm.2	+	7	1786	c.1512C>G	c.(1510-1512)CTC>CTG	p.L504L	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.L504L|GRM7_uc003bql.2_Silent_p.L504L|GRM7_uc003bqn.1_Silent_p.L87L|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	504	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	AACTTCAGCTCAATGTGAGTT	0.443		NaN											0	0	0	0.008871	0	19	75				
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:14745900G>A	uc003byy.2	+	7	1339	c.935G>A	c.(934-936)CGA>CAA	p.R312Q	C3orf20_uc003byz.2_Missense_Mutation_p.R190Q|C3orf20_uc003bza.2_Missense_Mutation_p.R190Q|C3orf20_uc003byx.1_Intron	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	312						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						ATGATCTTACGAAACTACAAG	0.493		NaN											0	0	0	0.024334	0	27	76				
TRIM71	131405	broad.mit.edu	37	3	32933231	32933231	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:32933231C>T	uc003cff.2	+	4	2598	c.2535C>T	c.(2533-2535)TCC>TCT	p.S845S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	845	NHL 6.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						ACCGCCCTTCCGGCATCGCCA	0.527		NaN											0	0	0	0.008361	0	29	121				
FBXL2	25827	broad.mit.edu	37	3	33416785	33416785	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:33416785C>T	uc003cfp.2	+	10	734	c.663C>T	c.(661-663)ATC>ATT	p.I221I	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Silent_p.I116I|FBXL2_uc011axp.1_Silent_p.I137I|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	221	LRR 7.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						CTCAGCGTATCACGGATGAAG	0.512		NaN											0	0	0	0.01441	0	48	35				
EPM2AIP1	9852	broad.mit.edu	37	3	37033161	37033161	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:37033161C>G	uc003cgk.2	-	1	1635	c.1408G>C	c.(1408-1410)GAA>CAA	p.E470Q	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	470						endoplasmic reticulum					0						CTCTCAAATTCTTTTTGGAGA	0.328		NaN											0	0	0	0.006214	0	10	38				
IMPDH2	3615	broad.mit.edu	37	3	49062587	49062587	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:49062587C>T	uc003cvt.2	-	10	1214	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	374					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAAGGCTTTCGCAATATGAC	0.577		NaN											0	0	0	0.00632	0	30	23				
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:98002110C>T	uc003dsj.1	+	1	379	c.379C>T	c.(379-381)CGC>TGC	p.R127C		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						GGCATATGATCGCTATGTAGC	0.378		NaN											0	0	0	0.007291	0	31	99				
BTLA	151888	broad.mit.edu	37	3	112190070	112190070	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:112190070C>G	uc003dza.3	-	3	739	c.536G>C	c.(535-537)AGA>ACA	p.R179T	BTLA_uc003dzb.3_Intron	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	179	Cytoplasmic (Potential).				T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TTGGTGCCTTCTCAGGCAGCA	0.493		NaN											0	0	0	0.024245	0	15	47				
GOLGB1	2804	broad.mit.edu	37	3	121396236	121396236	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:121396236T>C	uc003eei.3	-	16	9046	c.8920A>G	c.(8920-8922)ATC>GTC	p.I2974V	GOLGB1_uc010hrc.2_Missense_Mutation_p.I2979V|GOLGB1_uc003eej.3_Missense_Mutation_p.I2940V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2974	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTATCTGAGATAGCCATAAGG	0.408		NaN											0	0	0	0.020292	0	14	61				
PDIA5	10954	broad.mit.edu	37	3	122849434	122849434	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:122849434C>T	uc003egc.1	+	11	937	c.881C>T	c.(880-882)TCC>TTC	p.S294F	PDIA5_uc003egd.1_Intron	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	294	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AAGGAACACTCCTCTGTCCTC	0.587		NaN											0	0	0	0.01441	0	43	32				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.00499	0	13	20				
PLXNA1	5361	broad.mit.edu	37	3	126708282	126708282	+	Silent	SNP	C	C	T	rs146246704		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:126708282C>T	uc003ejg.2	+	1	781	c.777C>T	c.(775-777)ATC>ATT	p.I259I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	282	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGTCCAAGATCGTGCGGCTCT	0.602		NaN											0	0	0	0.01441	0	50	138				
MECOM	2122	broad.mit.edu	37	3	168840502	168840502	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr3:168840502T>G	uc003ffi.3	-	5	549	c.280A>C	c.(280-282)ATG>CTG	p.M94L	MECOM_uc010hwk.1_Missense_Mutation_p.M117L|MECOM_uc003ffj.3_Missense_Mutation_p.M158L|MECOM_uc011bpi.1_Missense_Mutation_p.M94L|MECOM_uc003ffn.3_Missense_Mutation_p.M94L|MECOM_uc003ffk.2_Missense_Mutation_p.M94L|MECOM_uc003ffl.2_Missense_Mutation_p.M254L|MECOM_uc011bpj.1_Missense_Mutation_p.M282L|MECOM_uc011bpk.1_Missense_Mutation_p.M84L|MECOM_uc010hwn.2_Missense_Mutation_p.M282L|MECOM_uc003ffm.1_Missense_Mutation_p.M158L	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	94	Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 2.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TGTGACAGCATGTGTTTCTCC	0.373		NaN											0	0	0	0.017118	0	36	27				
HTRA3	94031	broad.mit.edu	37	4	8288376	8288376	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:8288376G>A	uc003gla.2	+	3	778	c.574G>A	c.(574-576)GTG>ATG	p.V192M	HTRA3_uc003gkz.2_Missense_Mutation_p.V192M	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	192	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CAATGCCCACGTGGTGTCCAG	0.602		NaN											0	0	0	0.024334	0	28	34				
BEND4	389206	broad.mit.edu	37	4	42145579	42145579	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:42145579G>A	uc003gwn.2	-	3	1500	c.920C>T	c.(919-921)TCA>TTA	p.S307L	BEND4_uc003gwm.2_Missense_Mutation_p.S307L|BEND4_uc011byy.1_Missense_Mutation_p.S307L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	307											0						CAGTGTAGATGAAGATGGGTG	0.463		NaN											0	0	0	0.009096	0	4	3				
TMEM165	55858	broad.mit.edu	37	4	56284049	56284049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:56284049T>A	uc003hax.2	+	4	956	c.689T>A	c.(688-690)TTG>TAG	p.L230*	TMEM165_uc011bzy.1_Nonsense_Mutation_p.L167*	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	230	Helical; (Potential).					integral to membrane					0	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AAAAAGTGGTTGCATTTTATT	0.353		NaN											0	0	0	0.004672	0	3	27				
METTL14	57721	broad.mit.edu	37	4	119613186	119613186	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:119613186C>A	uc003icf.2	+	5	491	c.375C>A	c.(373-375)GAC>GAA	p.D125E	METTL14_uc003icg.2_Missense_Mutation_p.D87E	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	125						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						ATTTTGTAGACACTGGACATA	0.353		NaN											1	0	1.96895e-08	0.016522	2.06928e-08	22	59				
CLGN	1047	broad.mit.edu	37	4	141310427	141310427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:141310427C>T	uc011chi.1	-	16	2002	c.1784G>A	c.(1783-1785)GGA>GAA	p.G595E	CLGN_uc003iii.2_Missense_Mutation_p.G595E	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	595	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					CGGCCCATCTCCAGATCCTGT	0.333		NaN											0	0	0	0.006214	0	10	50				
LRBA	987	broad.mit.edu	37	4	151773605	151773605	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:151773605G>A	uc010ipj.2	-	23	3731	c.3257C>T	c.(3256-3258)TCA>TTA	p.S1086L	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1086L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1086						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ATCCTCTTCTGAAGGAGAACT	0.383		NaN											0	0	0	0.013537	0	13	51				
SDHA	6389	broad.mit.edu	37	5	224526	224527	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:224526_224527GG>TT	uc003jao.3	+	3	317_318	c.202_203GG>TT	c.(202-204)GGC>TTC	p.G68F	SDHA_uc003jan.2_Missense_Mutation_p.G68F|SDHA_uc011clv.1_Missense_Mutation_p.G68F|SDHA_uc011clw.1_Missense_Mutation_p.G68F|SDHA_uc003jap.3_Missense_Mutation_p.G68F	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	68	FAD (By similarity).				nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGTGGTGGTAGGCGCTGGAGGG	0.47		NaN							Familial_Paragangliomas				0	0	0	0.004672	0	50	78				
TRIO	7204	broad.mit.edu	37	5	14358313	14358313	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:14358313G>A	uc003jff.2	+	12	2079	c.2073G>A	c.(2071-2073)CAG>CAA	p.Q691Q	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.Q642Q|TRIO_uc003jfh.1_Silent_p.Q340Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	691					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGAGCTGCAGAAGGAGCTGC	0.687		NaN											0	0	0	0.00308	0	8	17				
BASP1	10409	broad.mit.edu	37	5	17275374	17275374	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:17275374G>A	uc003jfx.2	+	2	228	c.49G>A	c.(49-51)GAG>AAG	p.E17K		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	17					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						TGTGAACGACGAGAAAGCCAA	0.577		NaN											0	0	0	0.00308	0	7	15				
C5orf42	65250	broad.mit.edu	37	5	37154070	37154070	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:37154070G>C	uc011cpa.1	-	41	8214	c.7983C>G	c.(7981-7983)TTC>TTG	p.F2661L	C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.F1179L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F1754L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2661										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTGTCCTTTGAATCGGAACT	0.393		NaN											0	0	0	0.012319	0	22	27				
MAST4	375449	broad.mit.edu	37	5	66460281	66460281	+	Silent	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:66460281C>G	uc003jut.1	+	28	4775	c.4707C>G	c.(4705-4707)CTC>CTG	p.L1569L	MAST4_uc003juw.2_Silent_p.L1497L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1761						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGTTCCCCTCAAGGCCTTAA	0.607		NaN											0	0	0	0.024245	0	15	35				
OCLN	4950	broad.mit.edu	37	5	68805528	68805528	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:68805528C>G	uc003jwu.2	+	3	1047	c.611C>G	c.(610-612)TCT>TGT	p.S204C	OCLN_uc003jwv.3_Missense_Mutation_p.S204C	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTCAGTCTTCTGGATCTCTA	0.403		NaN											0	0	0	0.01441	0	64	115				
WDR41	55255	broad.mit.edu	37	5	76732192	76732192	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:76732192C>A	uc003kff.1	-	12	1408	c.1121G>T	c.(1120-1122)AGA>ATA	p.R374I	WDR41_uc011csy.1_Missense_Mutation_p.R316I|WDR41_uc011csz.1_Missense_Mutation_p.R319I	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	374											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTGCTGACTCTTCCAAATCC	0.353		NaN											1	0	9.16793e-09	0.00499	9.66587e-09	17	36				
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:94030836C>A	uc003kkr.3	+	21	3076	c.2996C>A	c.(2995-2997)ACC>AAC	p.T999N	ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348		NaN											1	0	2.32078e-09	0.024245	2.45468e-09	11	60				
TSLP	85480	broad.mit.edu	37	5	110407681	110407681	+	Silent	SNP	C	C	T	rs148498768	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:110407681C>T	uc003kpb.2	+	1	292	c.93C>T	c.(91-93)TTC>TTT	p.F31F	TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	31						extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTACGACTTCACTAACTGTG	0.368		NaN											0	0	0	0.027894	0	40	44				
STARD4	134429	broad.mit.edu	37	5	110835670	110835670	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:110835670G>T	uc003kph.1	-	6	616	c.532C>A	c.(532-534)CGT>AGT	p.R178S	STARD4_uc010jbw.1_Missense_Mutation_p.R80S|STARD4_uc010jbx.1_Missense_Mutation_p.R80S|STARD4_uc003kpi.1_RNA	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	178	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ATCATCCCACGCAGATCTGTC	0.413		NaN											1	0	7.92952e-12	0.021523	8.52359e-12	26	43				
SNCAIP	9627	broad.mit.edu	37	5	121759024	121759024	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:121759024G>A	uc003ksw.1	+	4	798	c.592G>A	c.(592-594)GAG>AAG	p.E198K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E198K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E245K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E198K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	198					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAAGTTCTGAGAGCTCATC	0.463		NaN											0	0	0	0.012213	0	33	61				
FBN2	2201	broad.mit.edu	37	5	127614405	127614405	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:127614405C>G	uc003kuu.2	-	57	7706	c.7267G>C	c.(7267-7269)GAG>CAG	p.E2423Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2423	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCAAAGCTCGCACTGGTGG	0.493		NaN											0	0	0	0.006122	0	19	46				
PCDHB1	29930	broad.mit.edu	37	5	140433360	140433360	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:140433360C>G	uc003lik.1	+	1	2382	c.2305C>G	c.(2305-2307)CGC>GGC	p.R769G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	769	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGTGAGTTTCGCTTTCTTAA	0.463		NaN											0	0	0	0.007291	0	29	66				
PCDHB6	56130	broad.mit.edu	37	5	140530412	140530412	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:140530412G>C	uc003lir.2	+	1	574	c.574G>C	c.(574-576)GAG>CAG	p.E192Q	PCDHB6_uc011dah.1_Missense_Mutation_p.E56Q	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	192	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTTCCCGGAGCTGGTGCT	0.617		NaN											0	0	0	0.00874	0	43	62				
GABRG2	2566	broad.mit.edu	37	5	161528316	161528316	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:161528316C>T	uc003lyz.3	+	5	982	c.624C>T	c.(622-624)TTC>TTT	p.F208F	GABRG2_uc010jjc.2_Silent_p.F208F|GABRG2_uc003lyy.3_Silent_p.F208F|GABRG2_uc011dej.1_Silent_p.F113F	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	208	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTTGGAGTTCTCCAGTTGTA	0.363		NaN											0	0	0	0.013537	0	10	11				
UNC5A	90249	broad.mit.edu	37	5	176306326	176306326	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:176306326G>C	uc003mey.2	+	14	2392	c.2200G>C	c.(2200-2202)GAG>CAG	p.E734Q		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	734	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTTTGCTGAGCTGCTGGC	0.617		NaN											0	0	0	0.024334	0	25	60				
FLT4	2324	broad.mit.edu	37	5	180041110	180041110	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr5:180041110C>T	uc003mma.3	-	24	3368	c.3289G>A	c.(3289-3291)GTG>ATG	p.V1097M	FLT4_uc003mlz.3_Missense_Mutation_p.V1097M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1097	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGACCACACGTCACTCTGC	0.622		NaN							Congenital_Hereditary_Lymphedema				0	0	0	0.00499	0	15	36				
SERPINB6	5269	broad.mit.edu	37	6	2948867	2948867	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:2948867C>T	uc003muk.2	-	6	2791	c.796G>A	c.(796-798)GAG>AAG	p.E266K	SERPINB6_uc003mui.2_Missense_Mutation_p.E149K|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.E266K|SERPINB6_uc003mum.2_Missense_Mutation_p.E266K|SERPINB6_uc003mun.2_Missense_Mutation_p.E266K|SERPINB6_uc003muo.2_Missense_Mutation_p.E266K	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	266					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ACTTCCACCTCCTCTTCATCC	0.517		NaN											0	0	0	0.01441	0	56	122				
DSP	1832	broad.mit.edu	37	6	7575714	7575714	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:7575714G>C	uc003mxp.1	+	18	2902	c.2623G>C	c.(2623-2625)GAC>CAC	p.D875H	DSP_uc003mxq.1_Missense_Mutation_p.D875H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	875	Globular 1.|Spectrin 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAACAGATCGACTTTAGGTA	0.473		NaN											0	0	0	0.016723	0	13	34				
HIST1H1C	3006	broad.mit.edu	37	6	26056108	26056108	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:26056108C>G	uc003nfw.2	-	1	592	c.549G>C	c.(547-549)AAG>AAC	p.K183N		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	183					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						TGGCAGCTTTCTTGGGCTTCG	0.552		NaN											0	0	0	0.007291	0	30	52				
TRIM31	11074	broad.mit.edu	37	6	30080495	30080495	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:30080495C>T	uc003npg.1	-	2	198	c.88G>A	c.(88-90)GAC>AAC	p.D30N	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	30	RING-type.					mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TGCCCACAGTCGATGGTGACA	0.473		NaN											0	0	0	0.024334	0	27	57				
VARS2	57176	broad.mit.edu	37	6	30891140	30891140	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:30891140C>A	uc003nsc.1	+	24	2956	c.2324C>A	c.(2323-2325)TCC>TAC	p.S775Y	VARS2_uc011dmx.1_Missense_Mutation_p.S775Y|VARS2_uc011dmy.1_Missense_Mutation_p.S635Y|VARS2_uc011dmz.1_Missense_Mutation_p.S805Y|VARS2_uc011dna.1_Missense_Mutation_p.S773Y|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S213Y|VARS2_uc010jsg.1_Missense_Mutation_p.S147Y|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	775					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CTGTCTCCCTCCTCCCCGATG	0.657		NaN											1	0	1.08611e-07	0.010729	1.13783e-07	12	30				
DNAH8	1769	broad.mit.edu	37	6	38941567	38941567	+	Missense_Mutation	SNP	G	G	A	rs144808884	byFrequency	TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:38941567G>A	uc003ooe.1	+	82	12605	c.12005G>A	c.(12004-12006)CGA>CAA	p.R4002Q	DNAH8_uc003oog.1_Missense_Mutation_p.R451Q	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCCCATGATCGATTTCCAATT	0.393		NaN											0	0	0	0.016723	0	12	24				
SLC22A7	10864	broad.mit.edu	37	6	43266487	43266487	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:43266487G>C	uc003out.2	+	1	490	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	SLC22A7_uc010jyl.1_Missense_Mutation_p.E131Q|SLC22A7_uc003ous.2_Missense_Mutation_p.E131Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	131						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CATTGCAACTGAGGTACTTAA	0.468		NaN											0	0	0	0.010729	0	10	24				
GRIK2	2898	broad.mit.edu	37	6	102516372	102516372	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:102516372G>C	uc003pqp.3	+	16	2962	c.2713G>C	c.(2713-2715)GAA>CAA	p.E905Q	GRIK2_uc003pqo.3_3'UTR|GRIK2_uc010kcw.2_3'UTR	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	905	Cytoplasmic (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCCAGGTAAAGAAACCATGGC	0.433		NaN											0	0	0	0.006214	0	9	25				
TPD52L1	7164	broad.mit.edu	37	6	125578274	125578274	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:125578274G>A	uc003pzu.1	+	6	675	c.456G>A	c.(454-456)GAG>GAA	p.E152E	TPD52L1_uc003pzv.1_Intron|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzy.1_Silent_p.E123E|TPD52L1_uc003pzz.1_Intron	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	152					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CATTTGAGGAGAGGGTTGAGA	0.443		NaN											0	0	0	0.004482	0	8	23				
CCDC28A	25901	broad.mit.edu	37	6	139106381	139106381	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:139106381G>A	uc003qie.2	+	4	765	c.610G>A	c.(610-612)GAA>AAA	p.E204K		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	204											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ATGTTCCATTGAACAGATGGA	0.393		NaN											0	0	0	0.012213	0	34	42				
STX11	8676	broad.mit.edu	37	6	144508056	144508056	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:144508056G>A	uc003qks.3	+	2	484	c.292G>A	c.(292-294)GAG>AAG	p.E98K		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	98					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCCCGGGGCGAGGTCATCCA	0.682		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.013537	0	13	15				
PPP1R14C	81706	broad.mit.edu	37	6	150535916	150535916	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:150535916G>A	uc003qnt.2	+	2	484	c.343G>A	c.(343-345)GAT>AAT	p.D115N		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	115					regulation of phosphorylation	cytoplasm|membrane					0		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGACATTGATGATCTTCTTGA	0.413		NaN											0	0	0	0.028581	0	15	53				
PARK2	5071	broad.mit.edu	37	6	162622255	162622255	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:162622255C>A	uc003qtx.3	-	4	576	c.442G>T	c.(442-444)GTG>TTG	p.V148L	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.V148L|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.V148L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	148					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGCAATACACATAAAAGCTG	0.458		NaN											1	0	0.000442599	0.006214	0.000453596	9	38				
PURB	5814	broad.mit.edu	37	7	44924074	44924074	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:44924074C>T	uc003tme.2	-	1	887	c.874G>A	c.(874-876)GAG>AAG	p.E292K		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	292					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						CCACGTCGCTCATAAAGCTTA	0.592		NaN											0	0	0	0.024334	0	25	62				
ZNF680	340252	broad.mit.edu	37	7	63982867	63982867	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:63982867G>C	uc003tta.2	-	4	438	c.265C>G	c.(265-267)CAT>GAT	p.H89D	ZNF680_uc010kzr.2_Missense_Mutation_p.H16D	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				TCAGTGAAATGAGAATATATA	0.289		NaN											0	0	0	0.006214	0	9	14				
TMEM120A	83862	broad.mit.edu	37	7	75617241	75617241	+	Missense_Mutation	SNP	T	T	G	rs35558484		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:75617241T>G	uc003ued.2	-	9	795	c.691A>C	c.(691-693)AGC>CGC	p.S231R	TMEM120A_uc003uee.2_Missense_Mutation_p.E169A|TMEM120A_uc003ueb.1_Missense_Mutation_p.S17R|TMEM120A_uc003uec.2_Missense_Mutation_p.S135R	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	transmembrane protein 120A	231	Cytoplasmic (Potential).					integral to membrane					0						GGACACTCACTCTGGTACATG	0.612		NaN											0	0	0	0.021553	0	5	5				
PTPN12	5782	broad.mit.edu	37	7	77200497	77200497	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:77200497C>T	uc003ugh.2	+	2	293	c.202C>T	c.(202-204)CTG>TTG	p.L68L	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_RNA	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	68	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						CAAGGACATACTGCCATGTAA	0.328		NaN											0	0	0	0.021553	0	6	18				
OCM2	4951	broad.mit.edu	37	7	97619396	97619396	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:97619396G>A	uc003upc.2	-	1	21	c.21C>T	c.(19-21)CTC>CTT	p.L7L		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	7							calcium ion binding				0						CATCAGCACTGAGCACGTCCG	0.552		NaN											0	0	0	0.006214	0	8	23				
CNTNAP2	26047	broad.mit.edu	37	7	146805319	146805319	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:146805319G>T	uc003weu.1	+	5	1147	c.631G>T	c.(631-633)GTC>TTC	p.V211F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	211	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGAAAGATGTCATTGCCTT	0.363		NaN								HNSCC(39;0.1)			1	0	2.35188e-11	0.006122	2.51987e-11	19	27				
CUL1	8454	broad.mit.edu	37	7	148481129	148481129	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148481129G>A	uc010lpg.2	+	11	1784	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K	CUL1_uc003wey.2_Missense_Mutation_p.E420K|CUL1_uc003wez.2_Missense_Mutation_p.E310K|CUL1_uc003wfa.2_Missense_Mutation_p.E81K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TAAATCCCCTGAGTTGCTGGC	0.418		NaN											0	0	0	0.006122	0	19	33				
ZNF425	155054	broad.mit.edu	37	7	148801438	148801438	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148801438G>C	uc003wfj.2	-	4	1598	c.1525C>G	c.(1525-1527)CAG>GAG	p.Q509E		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	509	C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGACTGCTGAGAAAAGGTC	0.637		NaN											0	0	0	0.004482	0	8	12				
ZNF425	155054	broad.mit.edu	37	7	148802519	148802519	+	Silent	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:148802519G>C	uc003wfj.2	-	4	517	c.444C>G	c.(442-444)CTC>CTG	p.L148L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	148					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTTTCTCGGAGACTTGGAG	0.458		NaN											0	0	0	0.016522	0	24	49				
ZNF777	27153	broad.mit.edu	37	7	149152911	149152911	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:149152911G>A	uc003wfv.2	-	2	366	c.203C>T	c.(202-204)TCT>TTT	p.S68F		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATCCGGCCAGAAGTCTCTTG	0.577		NaN											0	0	0	0.027356	0	28	64				
GIMAP7	168537	broad.mit.edu	37	7	150217669	150217669	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:150217669G>C	uc003whk.2	+	2	737	c.607G>C	c.(607-609)GAT>CAT	p.D203H		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	203							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTACTTTTCTGATGACATATA	0.418		NaN											0	0	0	0.006122	0	19	35				
WDR60	55112	broad.mit.edu	37	7	158663923	158663923	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr7:158663923G>A	uc003woe.3	+	3	318	c.160G>A	c.(160-162)GAG>AAG	p.E54K		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	54										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACATAAGGAGCCGAGGTG	0.507		NaN											0	0	0	0.004482	0	8	12				
MTUS1	57509	broad.mit.edu	37	8	17507472	17507472	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:17507472C>T	uc003wxv.2	-	13	3859	c.3385_splice	c.e13-1	p.K1129_splice	MTUS1_uc003wxt.2_Splice_Site_p.K376_splice|MTUS1_uc011kyg.1_Splice_Site_p.K274_splice|MTUS1_uc010lsy.2_Splice_Site|MTUS1_uc003wxw.2_Splice_Site_p.K1075_splice|MTUS1_uc003wxs.2_Splice_Site_p.K295_splice	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1							Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GAGGATTTTTCTGGAAAGGAC	0.368		NaN											0	0	0	0.010818	0	33	15				
MYST3	7994	broad.mit.edu	37	8	41790517	41790517	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:41790517C>A	uc010lxb.2	-	18	5765	c.5221G>T	c.(5221-5223)GCC>TCC	p.A1741S	MYST3_uc010lxc.2_Missense_Mutation_p.A1741S|MYST3_uc003xon.3_Missense_Mutation_p.A1741S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1741					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TAGCTGCCGGCACCAAAATCC	0.498		NaN											1	0	8.88839e-20	0.010818	9.61695e-20	34	75				
STK3	6788	broad.mit.edu	37	8	99468130	99468130	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:99468130C>T	uc003yip.2	-	11	1557	c.1416G>A	c.(1414-1416)GCG>GCA	p.A472A	STK3_uc003yio.2_Silent_p.A500A	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	472	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTGTCTTTTCGCAGTGTATC	0.408		NaN											0	0	0	0.006214	0	9	11				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NaN											0	0	0	0.020292	0	12	25				
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:102213962C>G	uc003yka.2	-	3	423	c.8G>C	c.(7-9)CGT>CCT	p.R3P	ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	3						intracellular	zinc ion binding	p.R3P(2)		ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398		NaN											0	0	0	0.028581	0	8	19				
ATAD2	29028	broad.mit.edu	37	8	124371477	124371477	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:124371477T>A	uc003yqh.3	-	11	1474	c.1366A>T	c.(1366-1368)AAA>TAA	p.K456*	ATAD2_uc011lii.1_Nonsense_Mutation_p.K247*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.K456*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTTGAATTTTAAATTTTTCA	0.323		NaN											0	0	0	0.024334	0	25	41				
PLEC	5339	broad.mit.edu	37	8	144993273	144993273	+	Silent	SNP	G	G	A	rs34365303		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr8:144993273G>A	uc003zaf.1	-	32	11297	c.11127C>T	c.(11125-11127)ATC>ATT	p.I3709I	PLEC_uc003zab.1_Silent_p.I3572I|PLEC_uc003zac.1_Silent_p.I3576I|PLEC_uc003zad.2_Silent_p.I3572I|PLEC_uc003zae.1_Silent_p.I3540I|PLEC_uc003zag.1_Silent_p.I3550I|PLEC_uc003zah.2_Silent_p.I3558I|PLEC_uc003zaj.2_Silent_p.I3599I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3709	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGGAATGTCGATCTGTGTCT	0.632		NaN											0	0	0	0.004482	0	7	150				
FBXO10	26267	broad.mit.edu	37	9	37537289	37537289	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:37537289C>G	uc004aab.2	-	3	1286	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q	FBXO10_uc004aac.2_Missense_Mutation_p.E429Q|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	413						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		TTCTGCAGCTCCTGCTGCAGT	0.627		NaN											0	0	0	0.006214	0	10	1				
NTRK2	4915	broad.mit.edu	37	9	87482169	87482169	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:87482169G>A	uc004aoa.1	+	15	2346	c.1408G>A	c.(1408-1410)GTT>ATT	p.V470I	NTRK2_uc004any.1_Missense_Mutation_p.V470I|NTRK2_uc004anz.1_Missense_Mutation_p.V486I|NTRK2_uc011lsz.1_Missense_Mutation_p.V486I|NTRK2_uc011lta.1_Missense_Mutation_p.V470I|NTRK2_uc004aoc.2_Missense_Mutation_p.V21I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	470	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						CCCAGCCTCCGTTATCAGCAA	0.343		NaN								TSP Lung(25;0.17)			0	0	0	0.016522	0	24	43				
ZCCHC6	79670	broad.mit.edu	37	9	88938224	88938224	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:88938224C>G	uc004aoq.2	-	13	2656	c.2441G>C	c.(2440-2442)GGA>GCA	p.G814A	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.G691A|ZCCHC6_uc004aou.2_Missense_Mutation_p.G814A	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	814					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TGTACTTTCTCCATCAAGATC	0.423		NaN											0	0	0	0.007291	0	28	62				
FAM75C1	441452	broad.mit.edu	37	9	90537046	90537046	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:90537046C>G	uc010mqi.2	+	4	2253	c.2224C>G	c.(2224-2226)CCT>GCT	p.P742A	FAM75C1_uc004apq.3_Missense_Mutation_p.P725A	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						GGCCTCCTCACCTGCATGTAA	0.577		NaN											0	0	0	0.00499	0	16	39				
NR4A3	8013	broad.mit.edu	37	9	102590462	102590462	+	Silent	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:102590462G>A	uc004baf.1	+	3	867	c.138G>A	c.(136-138)GAG>GAA	p.E46E	NR4A3_uc004bae.2_Silent_p.E46E|NR4A3_uc004bag.1_Silent_p.E46E|NR4A3_uc004bai.2_Silent_p.E57E	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	46					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAGCACTGAGATCACGGCTA	0.562		NaN	T	EWSR1	extraskeletal myxoid chondrosarcoma								0	0	0	0.012319	0	19	39				
FKBP15	23307	broad.mit.edu	37	9	115931520	115931520	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:115931520G>A	uc004bgs.2	-	26	3587	c.3469C>T	c.(3469-3471)CAT>TAT	p.H1157Y	FKBP15_uc004bgr.2_Missense_Mutation_p.H594Y|FKBP15_uc011lxc.1_Missense_Mutation_p.H738Y|FKBP15_uc011lxd.1_Missense_Mutation_p.H1089Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1157					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CGCTGGGAATGATGGCTGGGT	0.542		NaN											0	0	0	0.013537	0	13	15				
TRIM32	22954	broad.mit.edu	37	9	119461874	119461874	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:119461874G>A	uc004bjx.2	+	2	2011	c.1853G>A	c.(1852-1854)TGT>TAT	p.C618Y	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.C618Y	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	618	NHL 5.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						GGACTTACCTGTCCGGTGGGC	0.507		NaN							Bardet-Biedl_syndrome				0	0	0	0.006122	0	18	38				
WDR34	89891	broad.mit.edu	37	9	131396647	131396647	+	Silent	SNP	G	G	A	rs146817584		TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:131396647G>A	uc004bvq.1	-	8	1354	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	WDR34_uc004bvs.1_Silent_p.S401S|WDR34_uc004bvr.1_Silent_p.S382S	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	410	WD 3.					cytoplasm				central_nervous_system(2)|skin(1)	3						CAGTCCCAGCGCTCAGGAAGA	0.627		NaN											0	0	0	0.020292	0	15	34				
NUP188	23511	broad.mit.edu	37	9	131768567	131768567	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:131768567C>G	uc004bws.1	+	43	5015	c.4993C>G	c.(4993-4995)CAG>GAG	p.Q1665E		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1665					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCTCATCTCTCAGGCGATGCG	0.572		NaN									OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013726	0	35	81				
GRIN1	2902	broad.mit.edu	37	9	140057342	140057342	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:140057342G>C	uc004clk.2	+	15	2388	c.2058G>C	c.(2056-2058)CAG>CAC	p.Q686H	GRIN1_uc004cli.1_Missense_Mutation_p.Q361H|GRIN1_uc004clj.1_Missense_Mutation_p.Q683H|GRIN1_uc004cll.2_Missense_Mutation_p.Q686H|GRIN1_uc004clm.2_Missense_Mutation_p.Q686H|GRIN1_uc004cln.2_Missense_Mutation_p.Q704H|GRIN1_uc004clo.2_Missense_Mutation_p.Q704H	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	686	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGGTGAAGCAGAGCTCCGTGG	0.637		NaN											0	0	0	0.004672	0	3	5				
EHMT1	79813	broad.mit.edu	37	9	140695358	140695358	+	Silent	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:140695358C>T	uc011mfc.1	+	18	2671	c.2634C>T	c.(2632-2634)ATC>ATT	p.I878I		NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	878	ANK 5.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCCATGATCTGGGCCACAG	0.587		NaN											0	0	0	0.009096	0	4	21				
MXRA5	25878	broad.mit.edu	37	X	3238723	3238723	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:3238723G>C	uc004crg.3	-	5	5160	c.5003C>G	c.(5002-5004)TCA>TGA	p.S1668*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1668						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTTGTACTTGATAATCTTGG	0.438		NaN											0	0	0	0.01441	0	150	35				
UBA1	7317	broad.mit.edu	37	X	47062396	47062396	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:47062396G>A	uc004dhj.3	+	12	1439	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	UBA1_uc004dhk.3_Missense_Mutation_p.E430K|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	430	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						TGATGCCCTTGAGTGTCTCCC	0.582		NaN											0	0	0	0.027894	0	39	5				
KCND1	3750	broad.mit.edu	37	X	48825780	48825780	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:48825780A>G	uc004dlx.1	-	1	2472	c.899T>C	c.(898-900)TTT>TCT	p.F300S	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	300	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GAAGATGCGAAACACCCGGAA	0.552		NaN											0	0	0	0.008291	0	10	15				
TRO	7216	broad.mit.edu	37	X	54955643	54955643	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:54955643C>G	uc004dtq.2	+	12	2593	c.2486C>G	c.(2485-2487)TCT>TGT	p.S829C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S360C|TRO_uc004dtw.2_Missense_Mutation_p.S432C|TRO_uc004dtx.2_Missense_Mutation_p.S212C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	829	6; approximate.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GGAGTCAGCTCTAGTTTTAGT	0.547		NaN											0	0	0	0.023175	0	41	6				
RPS4X	6191	broad.mit.edu	37	X	71493144	71493144	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:71493144C>T	uc004ear.2	-	6	724	c.628G>A	c.(628-630)GTG>ATG	p.V210M		NM_001007	NP_000998	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked X isoform	210					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0	Renal(35;0.156)					GCATCTTTCACGTGAACCACG	0.463		NaN											0	0	0	0.015359	0	34	3				
KIAA1210	57481	broad.mit.edu	37	X	118228014	118228014	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chrX:118228014C>G	uc004era.3	-	9	1312	c.1312G>C	c.(1312-1314)GAG>CAG	p.E438Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	438										ovary(4)|skin(1)	5						AGGGATCCCTCTAAAATACCC	0.483		NaN											0	0	0	0.008361	0	32	5				
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:3319489G>C	uc001akf.2	+	6	891	c.811G>C	c.(811-813)GAG>CAG	p.E271Q	PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	271					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.622		NaN	T	EVI1	MDS|AML								0	0	0	0.007413	0	15	55				
CHD5	26038	broad.mit.edu	37	1	6173059	6173059	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6173059C>G	uc001amb.1	-	34	5013	c.4913_splice	c.e34-1	p.E1638_splice	CHD5_uc001alz.1_Splice_Site_p.E495_splice|CHD5_uc001ama.1_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCACCTCCTCTGCAAGAAAA	0.562		NaN											0	0	0	0.00245	0	15	66				
ZBTB48	3104	broad.mit.edu	37	1	6649195	6649195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6649195G>A	uc009vmc.1	+	11	2113	c.1990G>A	c.(1990-1992)GAG>AAG	p.E664K	ZBTB48_uc001anx.2_Missense_Mutation_p.E664K|ZBTB48_uc009vmd.1_Missense_Mutation_p.E664K|ZBTB48_uc001any.1_Missense_Mutation_p.E302K	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	664						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTGCAGAGGAGAGCTTCAC	0.667		NaN											0	0	0	0.00245	0	15	71				
CAMTA1	23261	broad.mit.edu	37	1	6885189	6885189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6885189C>G	uc001aoi.2	+	3	360	c.153C>G	c.(151-153)ATC>ATG	p.I51M	CAMTA1_uc001aoh.2_RNA	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGTAAAAATCTTTTTACCGA	0.323		NaN											0	0	0	0.005443	0	27	97				
UTS2	10911	broad.mit.edu	37	1	7907829	7907829	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:7907829G>C	uc001aor.2	-	4	413	c.372C>G	c.(370-372)GTC>GTG	p.V124V	UTS2_uc001aoq.2_Intron|UTS2_uc001aos.2_Silent_p.V139V	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	124					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TTTCACTTCAGACACAGTATT	0.373		NaN											0	0	0	0.01441	0	47	266				
SRM	6723	broad.mit.edu	37	1	11115915	11115915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:11115915C>T	uc001arz.1	-	6	779	c.688G>A	c.(688-690)GTG>ATG	p.V230M	SRM_uc001ary.1_Missense_Mutation_p.V91M	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	230					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TAGGCCACCACGGGGAACAGG	0.642		NaN											0	0	0	0.000602	0	3	24				
CROCC	9696	broad.mit.edu	37	1	17249254	17249254	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:17249254G>A	uc001azt.2	+	2	226	c.157G>A	c.(157-159)GAG>AAG	p.E53K	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	53					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTTATCAGGGAGATTGTCAC	0.622		NaN											0	0	0	0.003755	0	35	109				
UBR4	23352	broad.mit.edu	37	1	19487565	19487565	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19487565A>G	uc001bbi.2	-	38	5256	c.5252T>C	c.(5251-5253)ATT>ACT	p.I1751T	UBR4_uc001bbm.1_Missense_Mutation_p.I962T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1751					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTCTCTGAAATCCTGGGTTC	0.517		NaN											0	0	0	0.001168	0	6	92				
AKR7L	246181	broad.mit.edu	37	1	19595155	19595155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19595155C>A	uc010ocx.1	-	7	745	c.745G>T	c.(745-747)GAG>TAG	p.E249*	AKR7L_uc010ocy.1_Missense_Mutation_p.G183V	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						AGGGCCTTCTCCACCAGGGCA	0.632		NaN											1	0	2.32078e-09	0.003163	2.39697e-09	14	86				
RNF186	54546	broad.mit.edu	37	1	20141360	20141360	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:20141360A>T	uc001bcr.2	-	1	412	c.235T>A	c.(235-237)TCC>ACC	p.S79T		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	ring finger protein 186	79	RING-type.					integral to membrane	zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGATGGACCAGGTGTTG	0.692		NaN											0	0	0	0.007835	0	38	26				
EPHA8	2046	broad.mit.edu	37	1	22924702	22924702	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:22924702G>C	uc001bfx.1	+	12	2300	c.2175G>C	c.(2173-2175)CTG>CTC	p.L725L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACACCTTCCTGAGGGTGCGTG	0.627		NaN											0	0	0	0.005443	0	23	121				
TCEA3	6920	broad.mit.edu	37	1	23713897	23713897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23713897C>T	uc001bgx.1	-	9	970	c.835G>A	c.(835-837)GAA>AAA	p.E279K	TCEA3_uc009vqm.1_Missense_Mutation_p.E48K	NM_003196	NP_003187	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	279	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCCTCAGTTCATCACTGGCC	0.557		NaN											0	0	0	0.00499	0	17	11				
E2F2	1870	broad.mit.edu	37	1	23848342	23848342	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23848342T>C	uc001bhe.1	-	3	993	c.565A>G	c.(565-567)AAC>GAC	p.N189D		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	189	DEF box.|Potential.				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CACTGGATGTTGTTCTTGGCC	0.602		NaN											0	0	0	0.010729	0	11	89				
GRHL3	57822	broad.mit.edu	37	1	24661179	24661179	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:24661179G>A	uc001biy.2	+	3	310	c.264G>A	c.(262-264)AGG>AGA	p.R88R	GRHL3_uc001bix.2_Silent_p.R83R|GRHL3_uc001biz.2_5'UTR	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	83					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGGGGGCAGGAATGACCAAG	0.507		NaN											0	0	0	0.008871	0	19	211				
GPN2	54707	broad.mit.edu	37	1	27216404	27216404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27216404C>T	uc001bnd.1	-	1	466	c.184G>A	c.(184-186)GAG>AAG	p.E62K		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	62							GTP binding				0						CCCACCAGCTCGCCCACGTCC	0.701		NaN											0	0	0	0.004878	0	34	10				
SYTL1	84958	broad.mit.edu	37	1	27675622	27675622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27675622G>A	uc001bnw.1	+	6	678	c.511G>A	c.(511-513)GAG>AAG	p.E171K	SYTL1_uc001bnv.1_Missense_Mutation_p.E159K|SYTL1_uc009vsu.1_Missense_Mutation_p.E159K|SYTL1_uc001bnx.2_Missense_Mutation_p.E171K|SYTL1_uc009vsv.1_Missense_Mutation_p.E171K	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	171					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGATCCTGAGGAGGCGTCCCA	0.617		NaN											0	0	0	0.007413	0	20	53				
FCN3	8547	broad.mit.edu	37	1	27695779	27695779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27695779G>C	uc001boa.2	-	8	854	c.848C>G	c.(847-849)TCA>TGA	p.S283*	MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Nonsense_Mutation_p.S272*	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	283	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCACGGCCTGAGGCCCAGTC	0.577		NaN											0	0	0	0.010729	0	10	65				
SDC3	9672	broad.mit.edu	37	1	31346158	31346158	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:31346158C>T	uc001bse.2	-	5	1276	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	SDC3_uc001bsd.2_Missense_Mutation_p.R352H	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	410	Cytoplasmic (Potential).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTTCATACGATAGATGAG	0.562		NaN											0	0	0	0.00245	0	13	66				
RBBP4	5928	broad.mit.edu	37	1	33138430	33138430	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:33138430C>T	uc001bvr.2	+	11	1299	c.1140C>T	c.(1138-1140)TTC>TTT	p.F380F	RBBP4_uc001bvs.2_Silent_p.F379F|RBBP4_uc010ohj.1_Silent_p.F128F|RBBP4_uc010ohk.1_Silent_p.F345F	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	380	WD 6.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TATCTGATTTCTCCTGGAATC	0.373		NaN											0	0	0	0.00499	0	16	96				
C1orf216	127703	broad.mit.edu	37	1	36181308	36181308	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:36181308G>A	uc001bzh.1	-	2	1103	c.615C>T	c.(613-615)ATC>ATT	p.I205I		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	205										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGTTGTCTAGGATGGTGTCGA	0.607		NaN									OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	22	108				
GRIK3	2899	broad.mit.edu	37	1	37499707	37499707	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37499707C>T	uc001caz.2	-	1	138	c.3G>A	c.(1-3)ATG>ATA	p.M1I	GRIK3_uc001cba.1_Missense_Mutation_p.M1I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	1					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGAGCGGTCATCGTTGGGC	0.771		NaN											0	0	0	0.004672	0	3	3				
ZC3H12A	80149	broad.mit.edu	37	1	37947425	37947425	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37947425C>T	uc001cbb.3	+	4	957	c.807C>T	c.(805-807)TTC>TTT	p.F269F	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	269					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTACTCCTTCGTCAATGACA	0.612		NaN											0	0	0	0.001855	0	13	21				
EPHA10	284656	broad.mit.edu	37	1	38197174	38197174	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:38197174G>A	uc009vvi.2	-	7	1658	c.1572C>T	c.(1570-1572)CGC>CGT	p.R524R	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	524	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAGACGTAGCGGGTAGCCG	0.587		NaN											0	0	0	0.01441	0	40	72				
MACF1	23499	broad.mit.edu	37	1	39797480	39797480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39797480G>C	uc010oiu.1	+	1	671	c.540G>C	c.(538-540)TTG>TTC	p.L180F	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1745					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTGAGCTTGAAATCAGGCC	0.488		NaN											0	0	0	0.006214	0	10	165				
MACF1	23499	broad.mit.edu	37	1	39799895	39799895	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39799895G>T	uc010oiu.1	+	1	3086	c.2955G>T	c.(2953-2955)CAG>CAT	p.Q985H	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2550					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATCCATCAGATTTTTAATC	0.378		NaN											1	0	7.38237e-10	0.00632	7.64262e-10	26	248				
MACF1	23499	broad.mit.edu	37	1	39800966	39800966	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39800966G>C	uc010oiu.1	+	1	4157	c.4026G>C	c.(4024-4026)ATG>ATC	p.M1342I	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2907					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATAACATGGGAAATGATA	0.338		NaN											0	0	0	0.008871	0	20	214				
KIAA0754	643314	broad.mit.edu	37	1	39876601	39876601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39876601C>T	uc009vvt.1	+	1	1426	c.664C>T	c.(664-666)CAG>TAG	p.Q222*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	86	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTAGATTTCAGCAGCACAG	0.433		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	31	144				
CCDC30	728621	broad.mit.edu	37	1	43042700	43042700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:43042700G>A	uc009vwk.1	+	7	975	c.865G>A	c.(865-867)GAA>AAA	p.E289K	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.E78K|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E103K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	289	Potential.										0						GATAAAGATTGAACTAAAGCA	0.388		NaN											0	0	0	0.001855	0	13	53				
IPO13	9670	broad.mit.edu	37	1	44424218	44424218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44424218C>G	uc001ckx.2	+	10	2630	c.1835C>G	c.(1834-1836)TCG>TGG	p.S612W		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	612	HEAT 10.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AACCTGCACTCGCTTATCTCA	0.562		NaN											0	0	0	0.003163	0	14	186				
ERI3	79033	broad.mit.edu	37	1	44785309	44785309	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44785309G>C	uc001clt.2	-	4	838	c.597C>G	c.(595-597)TTC>TTG	p.F199L	ERI3_uc010okv.1_Missense_Mutation_p.F22L|ERI3_uc009vxg.2_Missense_Mutation_p.F199L|ERI3_uc010okw.1_Missense_Mutation_p.F121L|ERI3_uc001clu.2_Missense_Mutation_p.F121L	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	199	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						CCTCTGTACAGAATGGGGTAA	0.512		NaN											0	0	0	0.00632	0	25	169				
PLK3	1263	broad.mit.edu	37	1	45269324	45269324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45269324C>T	uc001cmn.2	+	9	1225	c.1125C>T	c.(1123-1125)CTC>CTT	p.L375L	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	375						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGAGCGGCCTCATGCGCACAT	0.617		NaN											0	0	0	0.00308	0	7	22				
ZSWIM5	57643	broad.mit.edu	37	1	45484612	45484612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45484612C>G	uc001cnd.2	-	14	3300	c.3072G>C	c.(3070-3072)ATG>ATC	p.M1024I		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	1024							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TAAGATGGCTCATGGCCAATG	0.567		NaN									OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	12	87				
AKR1A1	10327	broad.mit.edu	37	1	46034629	46034629	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46034629C>T	uc001cod.2	+	8	1247	c.783C>T	c.(781-783)ATC>ATT	p.I261I	AKR1A1_uc001coe.2_Silent_p.I261I|AKR1A1_uc001cof.2_Silent_p.I67I|AKR1A1_uc001cog.2_RNA	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	261	NADP (By similarity).				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TGATCTGCATCCCCAAAAGTA	0.453		NaN											0	0	0	0.01441	0	155	114				
DMBX1	127343	broad.mit.edu	37	1	46976269	46976269	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46976269T>G	uc001cpx.2	+	2	306	c.291T>G	c.(289-291)GAT>GAG	p.D97E	DMBX1_uc001cpw.2_Missense_Mutation_p.D92E	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	97	Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ACTACCCAGATGTGGTGATGC	0.597		NaN											0	0	0	0.00632	0	26	35				
MYSM1	114803	broad.mit.edu	37	1	59142623	59142623	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:59142623C>T	uc009wab.1	-	9	1388	c.1365G>A	c.(1363-1365)TTG>TTA	p.L455L	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	455	SWIRM.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TTGCTCCTATCAATTCGAGGT	0.348		NaN											0	0	0	0.01441	0	53	110				
DOCK7	85440	broad.mit.edu	37	1	63024891	63024891	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63024891C>T	uc001daq.2	-	20	2234	c.2200G>A	c.(2200-2202)GAT>AAT	p.D734N	DOCK7_uc001dan.2_Missense_Mutation_p.D626N|DOCK7_uc001dao.2_Missense_Mutation_p.D626N|DOCK7_uc001dap.2_Missense_Mutation_p.D734N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	734	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AGATAAGGATCCTAAAACAAA	0.363		NaN											0	0	0	0.004482	0	7	34				
ANGPTL3	27329	broad.mit.edu	37	1	63066796	63066796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63066796C>G	uc001das.1	+	3	701	c.650C>G	c.(649-651)TCT>TGT	p.S217C	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	217					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						ATTTCTCTATCTTCCAAGCCA	0.343		NaN											0	0	0	0.012319	0	22	131				
MIER1	57708	broad.mit.edu	37	1	67411832	67411833	+	Splice_Site	DNP	GG	GG	TT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:67411832_67411833GG>TT	uc001dde.2	+	4	328	c.194_splice	c.e4-1	p.G65_splice	MIER1_uc001dda.3_Splice_Site_p.E90_splice|MIER1_uc010opf.1_Splice_Site_p.G29_splice|MIER1_uc009way.2_Splice_Site_p.G29_splice|MIER1_uc001ddc.2_Splice_Site_p.G65_splice|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Splice_Site_p.G29_splice|MIER1_uc001ddg.2_Splice_Site|MIER1_uc010opg.1_Splice_Site_p.G29_splice|MIER1_uc001ddj.1_Splice_Site_p.G12_splice|MIER1_uc001ddi.2_Splice_Site_p.G12_splice	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						TTCCTTACCAGGAGGTTCAGCA	0.317		NaN											0	0	0	0.004672	0	26	90				
ANKRD13C	81573	broad.mit.edu	37	1	70728465	70728465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:70728465C>T	uc001dex.3	-	13	1887	c.1561G>A	c.(1561-1563)GAT>AAT	p.D521N	ANKRD13C_uc009wbk.2_Missense_Mutation_p.D486N	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	521					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						ATGGAGCCATCAAATTCATCG	0.408		NaN											0	0	0	0.01441	0	61	138				
FUBP1	8880	broad.mit.edu	37	1	78430866	78430866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:78430866G>A	uc001dii.2	-	8	612	c.523C>T	c.(523-525)CCT>TCT	p.P175S	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P196S	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	175					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TGGAAGCCAGGAGCTGGTCTT	0.418		NaN											0	0	0	0.009535	0	30	141				
DNASE2B	58511	broad.mit.edu	37	1	84867740	84867740	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:84867740A>G	uc001djt.1	+	2	315	c.282A>G	c.(280-282)CTA>CTG	p.L94L		NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	94					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TACAACAGCTATATGAAGCAT	0.363		NaN						Direct_reversal_of_damage					0	0	0	0.001168	0	6	28				
COL24A1	255631	broad.mit.edu	37	1	86426951	86426951	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:86426951A>T	uc001dlj.2	-	24	2585	c.2543T>A	c.(2542-2544)ATT>AAT	p.I848N	COL24A1_uc001dli.2_Translation_Start_Site|COL24A1_uc010osd.1_Missense_Mutation_p.I148N|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	848	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATTTTTCCAATATTTCCTTG	0.289		NaN											0	0	0	0.003163	0	15	96				
ZNF644	84146	broad.mit.edu	37	1	91406420	91406420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:91406420G>A	uc001dnw.2	-	3	633	c.491C>T	c.(490-492)TCT>TTT	p.S164F	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.S164F	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGGTGTAGACAGCTGAAG	0.403		NaN											0	0	0	0.005443	0	29	150				
MTF2	22823	broad.mit.edu	37	1	93580289	93580289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:93580289G>C	uc009wdj.2	+	4	623	c.331G>C	c.(331-333)GAG>CAG	p.E111Q	MTF2_uc001dph.2_Missense_Mutation_p.E9Q|MTF2_uc010oth.1_Missense_Mutation_p.E9Q|MTF2_uc009wdk.2_Missense_Mutation_p.E111Q|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.E9Q|MTF2_uc001dpj.3_Missense_Mutation_p.E9Q|MTF2_uc001dpl.3_Missense_Mutation_p.E9Q	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	111	PHD-type 1.					nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		ATGTCAAGAAGAGTATTCAGA	0.328		NaN											0	0	0	0.013537	0	10	55				
CNN3	1266	broad.mit.edu	37	1	95363303	95363303	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363303A>C	uc010otw.1	-	8	1067	c.985T>G	c.(985-987)TAT>GAT	p.Y329D	CNN3_uc010otv.1_Missense_Mutation_p.Y288D|CNN3_uc001dqz.3_Missense_Mutation_p.Y329D|CNN3_uc010otx.1_Missense_Mutation_p.Y283D	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	329	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TGGATCTAATAATCAATGCCT	0.398		NaN											0	0	0	0.013726	0	33	154				
CNN3	1266	broad.mit.edu	37	1	95363318	95363318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363318C>T	uc010otw.1	-	8	1052	c.970G>A	c.(970-972)GAC>AAC	p.D324N	CNN3_uc010otv.1_Missense_Mutation_p.D283N|CNN3_uc001dqz.3_Missense_Mutation_p.D324N|CNN3_uc010otx.1_Missense_Mutation_p.D278N	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	324	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATGCCTTGGTCGCTATATTGG	0.398		NaN											0	0	0	0.006999	0	39	175				
LPPR5	163404	broad.mit.edu	37	1	99387500	99387500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:99387500G>A	uc001dsb.2	-	4	958	c.736C>T	c.(736-738)CGA>TGA	p.R246*	LPPR5_uc001dsc.2_Nonsense_Mutation_p.R246*	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	246						integral to membrane	hydrolase activity				0						CAATGATTTCGATATTCTGCT	0.368		NaN											0	0	0	0.004878	0	35	116				
FRRS1	391059	broad.mit.edu	37	1	100212977	100212977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:100212977G>A	uc001dsh.1	-	4	808	c.206C>T	c.(205-207)TCA>TTA	p.S69L		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	69	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGATGCCCTGACAAAGTAAC	0.378		NaN											0	0	0	0.008361	0	29	115				
FNDC7	163479	broad.mit.edu	37	1	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:109276098C>T	uc001dvx.2	+	10	2084	c.2084C>T	c.(2083-2085)TCA>TTA	p.S695L	FNDC7_uc010ova.1_Missense_Mutation_p.S462L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	696	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGATGGTCTCACCAGTTGCT	0.423		NaN											0	0	0	0.012319	0	23	94				
CSF1	1435	broad.mit.edu	37	1	110466437	110466437	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110466437G>A	uc001dyu.2	+	6	1607	c.1194G>A	c.(1192-1194)CCG>CCA	p.P398P	CSF1_uc001dyt.2_Intron|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Silent_p.P398P	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	398	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACCCCCCGGAGCCAGGCT	0.667		NaN											0	0	0	0.010729	0	9	44				
RBM15	64783	broad.mit.edu	37	1	110884629	110884629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110884629G>A	uc001dzl.1	+	1	2685	c.2602G>A	c.(2602-2604)GAC>AAC	p.D868N	RBM15_uc001dzm.1_Missense_Mutation_p.D868N|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	868	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGAAGTTCTGACAGCCGGTC	0.512		NaN	T	MKL1	acute megakaryocytic leukemia								0	0	0	0.00245	0	13	67				
DENND2D	79961	broad.mit.edu	37	1	111730906	111730906	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111730906G>A	uc001eak.1	-	11	1386	c.1186C>T	c.(1186-1188)CGG>TGG	p.R396W	DENND2D_uc001eal.1_Missense_Mutation_p.R393W	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	396	dDENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTTGCCTCCCGCTTGATATAG	0.473		NaN											0	0	0	0.004656	0	26	114				
WDR77	79084	broad.mit.edu	37	1	111983905	111983905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111983905C>T	uc001ebb.2	-	10	1015	c.976G>A	c.(976-978)GTT>ATT	p.V326I	WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.V262I	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	326				LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411).	ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding				0		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCACAACGTGGTGGACG	0.537		NaN											0	0	0	0.010504	0	22	55				
MOV10	4343	broad.mit.edu	37	1	113217604	113217604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113217604C>T	uc001eck.2	+	2	340	c.70C>T	c.(70-72)CGG>TGG	p.R24W	MOV10_uc001ecl.2_Missense_Mutation_p.R24W|MOV10_uc001ecn.2_Missense_Mutation_p.R24W|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	24					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCTGGTCGTTCGGGGACTGGA	0.667		NaN											0	0	0	0.006214	0	8	47				
MOV10	4343	broad.mit.edu	37	1	113234326	113234326	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113234326G>T	uc001eck.2	+	6	1146	c.876G>T	c.(874-876)GGG>GGT	p.G292G	MOV10_uc001ecl.2_Silent_p.G292G|MOV10_uc001ecn.2_Silent_p.G292G|MOV10_uc001ecm.2_Silent_p.G232G|MOV10_uc009wgj.1_Silent_p.G232G	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	292					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGCGCTGGGGACATACTACC	0.542		NaN											1	0	8.10497e-08	0.010504	8.35144e-08	20	79				
LRIG2	9860	broad.mit.edu	37	1	113657463	113657463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113657463G>A	uc001edf.1	+	15	2693	c.2495G>A	c.(2494-2496)AGA>AAA	p.R832K	LRIG2_uc009wgn.1_Missense_Mutation_p.R729K	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	832	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TACCACATGAGAAGGAAAAAT	0.398		NaN											0	0	0	0.008871	0	20	96				
OLFML3	56944	broad.mit.edu	37	1	114524373	114524373	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:114524373G>A	uc001eer.1	+	3	1312	c.1203G>A	c.(1201-1203)AAG>AAA	p.K401K	OLFML3_uc001ees.1_Silent_p.K381K|OLFML3_uc001eet.1_Silent_p.K257K	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	401	Olfactomedin-like.				multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGAGGAAGAAAGAGGAGG	0.458		NaN											0	0	0	0.004482	0	8	26				
APH1A	51107	broad.mit.edu	37	1	150238976	150238976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150238976G>C	uc001ety.1	-	6	1012	c.690C>G	c.(688-690)ATC>ATG	p.I230M	APH1A_uc010pbx.1_Missense_Mutation_p.I160M|APH1A_uc001etz.1_Missense_Mutation_p.I230M|APH1A_uc001eua.1_Missense_Mutation_p.I230M|APH1A_uc010pby.1_Missense_Mutation_p.I173M|APH1A_uc001eub.1_Missense_Mutation_p.I114M|APH1A_uc010pbz.1_Missense_Mutation_p.I114M	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	230	Helical; Name=7; (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)|lung(1)	2	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCAGCTGTGATGAAGGCCC	0.567		NaN											0	0	0	0.001168	0	6	37				
APH1A	51107	broad.mit.edu	37	1	150240466	150240466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150240466C>T	uc001ety.1	-	2	497	c.175G>A	c.(175-177)GTG>ATG	p.V59M	APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Missense_Mutation_p.V59M|APH1A_uc001eua.1_Missense_Mutation_p.V59M|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	59	Lumenal (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)|lung(1)	2	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGTCGGTCACATGGACCAAG	0.542		NaN											0	0	0	0.00632	0	29	49				
FLG	2312	broad.mit.edu	37	1	152281379	152281379	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152281379C>G	uc001ezu.1	-	3	6019	c.5983G>C	c.(5983-5985)GAA>CAA	p.E1995Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1995	Ser-rich.|Filaggrin 12.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAC	0.567		NaN							Ichthyosis				0	0	0	0.01441	0	96	819				
FLG2	388698	broad.mit.edu	37	1	152327225	152327225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152327225C>T	uc001ezw.3	-	3	3110	c.3037G>A	c.(3037-3039)GGT>AGT	p.G1013S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1013	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGACCATAGCCAGAT	0.483		NaN											0	0	0	0.01441	0	167	367				
KPRP	448834	broad.mit.edu	37	1	152732377	152732377	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152732377T>C	uc001fal.1	+	2	371	c.313T>C	c.(313-315)TCC>CCC	p.S105P		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	105	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCAAACTTCCTCTGTTCA	0.537		NaN											0	0	0	0.01441	0	115	274				
NUP210L	91181	broad.mit.edu	37	1	154000004	154000004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:154000004G>A	uc001fdw.2	-	29	3997	c.3925C>T	c.(3925-3927)CAG>TAG	p.Q1309*	NUP210L_uc009woq.2_Nonsense_Mutation_p.Q218*|NUP210L_uc010peh.1_Nonsense_Mutation_p.Q1309*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1309						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTTTGAGCTGAGAATTTATA	0.368		NaN											0	0	0	0.004289	0	36	101				
THBS3	7059	broad.mit.edu	37	1	155177629	155177629	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155177629G>A	uc001fix.2	-	1	62	c.39C>T	c.(37-39)CTC>CTT	p.L13L	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.L13L|THBS3_uc001fiz.2_Silent_p.L13L|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.L13L|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.2_5'Flank|MTX1_uc001fjc.2_5'Flank	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	13					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCAAAGGAGGAGAAGAGCCA	0.607		NaN											0	0	0	0.006214	0	9	52				
RIT1	6016	broad.mit.edu	37	1	155880497	155880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155880497G>A	uc001fmh.1	-	2	243	c.56C>T	c.(55-57)TCA>TTA	p.S19L	RIT1_uc010pgr.1_Intron	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	19					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTACTCCCGTGAGAGCCCAGC	0.527		NaN											0	0	0	0.01441	0	43	138				
SEMA4A	64218	broad.mit.edu	37	1	156127890	156127890	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156127890G>C	uc001fnl.2	+	4	434	c.330G>C	c.(328-330)AAG>AAC	p.K110N	SEMA4A_uc009wrq.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K11N|SEMA4A_uc001fno.2_Missense_Mutation_p.K110N	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	110	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					ACAGAAAAAAGAGTGAATGTG	0.522		NaN											0	0	0	0.010729	0	9	37				
ARHGEF11	9826	broad.mit.edu	37	1	156918212	156918212	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156918212C>T	uc001fqo.2	-	22	2924	c.1884G>A	c.(1882-1884)GAG>GAA	p.E628E	ARHGEF11_uc010phu.1_Silent_p.E44E|ARHGEF11_uc001fqn.2_Silent_p.E668E|ARHGEF11_uc001fqp.1_Silent_p.E147E	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	628					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGCACGTTCTCTGCCTTTC	0.602		NaN											0	0	0	0.006122	0	16	75				
SPTA1	6708	broad.mit.edu	37	1	158641938	158641938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158641938C>T	uc001fst.1	-	11	1598	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	467	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CGATGACGCTCGTCCCACAGT	0.423		NaN											0	0	0	0.00245	0	14	64				
OR6N2	81442	broad.mit.edu	37	1	158747226	158747226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158747226G>A	uc010pir.1	-	1	200	c.200C>T	c.(199-201)TCC>TTC	p.S67F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CTCCAAGAAGGAAAGAACACT	0.443		NaN											0	0	0	0.005443	0	28	211				
POGK	57645	broad.mit.edu	37	1	166818747	166818747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:166818747C>G	uc001gdt.1	+	5	1051	c.931C>G	c.(931-933)CGA>GGA	p.R311G	POGK_uc010ple.1_Missense_Mutation_p.R226G|POGK_uc010plf.1_Missense_Mutation_p.R193G	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	311	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GGGTTGGTGTCGAAGAATGAT	0.547		NaN											0	0	0	0.003163	0	14	95				
ADCY10	55811	broad.mit.edu	37	1	167852770	167852770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:167852770C>G	uc001ger.2	-	9	1223	c.925G>C	c.(925-927)GAG>CAG	p.E309Q	ADCY10_uc009wvk.2_Missense_Mutation_p.E217Q|ADCY10_uc010plj.1_Missense_Mutation_p.E156Q|ADCY10_uc009wvl.2_Missense_Mutation_p.E308Q|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	309	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GGGCCTATCTCTTCTGCTTTG	0.438		NaN											0	0	0	0.01441	0	54	207				
F5	2153	broad.mit.edu	37	1	169494148	169494148	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:169494148T>C	uc001ggg.1	-	19	5862	c.5717_splice	c.e19-1	p.D1906_splice		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor						cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCTACAGTCTATGAAAAACA	0.328		NaN											0	0	0	0.00623	0	40	91				
ZBTB37	84614	broad.mit.edu	37	1	173839578	173839578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:173839578C>T	uc009wwp.1	+	3	491	c.215C>T	c.(214-216)TCA>TTA	p.S72L	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.S72L|ZBTB37_uc001gjq.3_Missense_Mutation_p.S72L|ZBTB37_uc001gjr.2_Missense_Mutation_p.S72L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	72	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTCTCCATTTCAGTCATCAAG	0.483		NaN											0	0	0	0.00623	0	42	80				
DHX9	1660	broad.mit.edu	37	1	182822501	182822501	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:182822501G>A	uc001gpr.2	+	5	588	c.425G>A	c.(424-426)GGA>GAA	p.G142E	DHX9_uc001gps.2_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	142	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TGGGACCGAGGAGCCAACTTG	0.448		NaN											0	0	0	0.01441	0	48	142				
SMG7	9887	broad.mit.edu	37	1	183518386	183518386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:183518386C>T	uc001gqg.2	+	18	2908	c.2786C>T	c.(2785-2787)TCC>TTC	p.S929F	SMG7_uc001gqf.2_Missense_Mutation_p.S933F|SMG7_uc001gqh.2_Missense_Mutation_p.S883F|SMG7_uc001gqi.2_Missense_Mutation_p.S841F|SMG7_uc010poc.1_Missense_Mutation_p.S937F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	929	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCACATTCATCCTCTTTCCTG	0.388		NaN											0	0	0	0.005524	0	35	78				
HMCN1	83872	broad.mit.edu	37	1	186044020	186044020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:186044020C>G	uc001grq.1	+	53	8516	c.8287C>G	c.(8287-8289)CAA>GAA	p.Q2763E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2763	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTGAATATTCAAGGTAATAC	0.284		NaN											0	0	0	0.014323	0	20	91				
ASPM	259266	broad.mit.edu	37	1	197070599	197070599	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:197070599C>T	uc001gtu.2	-	18	8039	c.7782G>A	c.(7780-7782)CAG>CAA	p.Q2594Q	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q442Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2594					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAAATACTTTCTGTTTCTTTT	0.353		NaN											0	0	0	0.00499	0	18	86				
KDM5B	10765	broad.mit.edu	37	1	202718108	202718108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202718108C>T	uc001gyf.2	-	14	2097	c.1981G>A	c.(1981-1983)GAT>AAT	p.D661N	KDM5B_uc009xag.2_Missense_Mutation_p.D697N|KDM5B_uc001gyg.1_Missense_Mutation_p.D503N	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	661					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GCTTTCTCATCCTCAATCATA	0.388		NaN											0	0	0	0.011902	0	46	153				
CYB5R1	51706	broad.mit.edu	37	1	202935922	202935922	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202935922G>C	uc001gyt.2	-	2	191	c.120C>G	c.(118-120)CTC>CTG	p.L40L	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	40					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGGGGTCCAGGAGAGTGACCT	0.632		NaN											0	0	0	0.001168	0	5	54				
LAX1	54900	broad.mit.edu	37	1	203743331	203743331	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:203743331A>G	uc001haa.2	+	5	1129	c.719A>G	c.(718-720)GAC>GGC	p.D240G	LAX1_uc010pql.1_Missense_Mutation_p.D224G|LAX1_uc001hab.2_Missense_Mutation_p.D164G	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	240	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGCTGGTGACTGCACCAGT	0.473		NaN											0	0	0	0.004656	0	24	44				
REN	5972	broad.mit.edu	37	1	204129688	204129688	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:204129688G>C	uc001haq.2	-	4	536	c.492C>G	c.(490-492)ACC>ACG	p.T164T		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	164					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCCAACTTACGGTGATGATGT	0.597		NaN											0	0	0	0.001855	0	14	41				
PFKFB2	5208	broad.mit.edu	37	1	207228122	207228122	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207228122T>C	uc001hfg.2	+	2	169	c.60T>C	c.(58-60)AAT>AAC	p.N20N	PFKFB2_uc010psc.1_5'UTR|YOD1_uc001hff.1_5'Flank|PFKFB2_uc001hfh.2_Silent_p.N20N|PFKFB2_uc009xcc.2_5'UTR	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	20	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					AAACCCCAAATCTTCGAATGT	0.428		NaN											0	0	0	0.00308	0	7	30				
CD55	1604	broad.mit.edu	37	1	207495889	207495889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207495889C>T	uc001hfq.3	+	2	557	c.263C>T	c.(262-264)TCA>TTA	p.S88L	CD55_uc001hfp.3_Missense_Mutation_p.S88L|CD55_uc001hfr.3_Missense_Mutation_p.S88L|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.S88L|CD55_uc009xce.2_Missense_Mutation_p.S88L	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	88	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	AGTCAATGGTCAGATATTGAA	0.363		NaN											0	0	0	0.004878	0	35	79				
C1orf107	27042	broad.mit.edu	37	1	210010531	210010531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:210010531G>A	uc001hhr.1	+	6	1113	c.1037G>A	c.(1036-1038)AGA>AAA	p.R346K	C1orf107_uc009xcu.1_Missense_Mutation_p.R61K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	346					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GATGACTTCAGAGACCAAGGG	0.522		NaN											0	0	0	0.009096	0	4	36				
LPGAT1	9926	broad.mit.edu	37	1	211966441	211966441	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:211966441C>T	uc001hiu.2	-	3	1143	c.330G>A	c.(328-330)CTG>CTA	p.L110L	LPGAT1_uc001hiv.2_Silent_p.L110L	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	110					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GGCACATCATCAGTGTGCACA	0.403		NaN											0	0	0	0.01441	0	123	283				
FLVCR1	28982	broad.mit.edu	37	1	213032136	213032136	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213032136C>T	uc001hjt.2	+	1	540	c.342C>T	c.(340-342)TTC>TTT	p.F114F	LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular	114	Helical; (Potential).				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TCCTGATCTTCAGCCTGTACT	0.637		NaN											0	0	0	0.012319	0	22	44				
RPS6KC1	26750	broad.mit.edu	37	1	213415370	213415370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213415370G>A	uc010ptr.1	+	11	2710	c.2551G>A	c.(2551-2553)GAT>AAT	p.D851N	RPS6KC1_uc001hkd.2_Missense_Mutation_p.D839N|RPS6KC1_uc010pts.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D670N|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D386N|RPS6KC1_uc001hke.2_Missense_Mutation_p.D670N	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	851	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGATCAGACTGATGATTTGGC	0.383		NaN											0	0	0	0.01441	0	64	173				
TAF1A	9015	broad.mit.edu	37	1	222743964	222743964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:222743964G>A	uc009xdz.1	-	6	837	c.648C>T	c.(646-648)TTC>TTT	p.F216F	TAF1A_uc001hni.1_Silent_p.F102F|TAF1A_uc001hnj.2_Silent_p.F216F|TAF1A_uc001hnk.2_Silent_p.F102F|TAF1A_uc010pur.1_Silent_p.F216F	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	216					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		AGCTGTGGTTGAACACATCCT	0.363		NaN											0	0	0	0.01441	0	85	166				
OBSCN	84033	broad.mit.edu	37	1	228434453	228434453	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:228434453T>A	uc009xez.1	+	13	4026	c.3982T>A	c.(3982-3984)TAC>AAC	p.Y1328N	OBSCN_uc001hsn.2_Missense_Mutation_p.Y1328N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1328	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGCTGGGGAGTACACCTGTGA	0.597		NaN											0	0	0	0.003755	0	31	68				
URB2	9816	broad.mit.edu	37	1	229771854	229771854	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229771854C>T	uc001hts.1	+	4	1630	c.1494C>T	c.(1492-1494)CTC>CTT	p.L498L	URB2_uc009xfd.1_Silent_p.L498L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	498						nucleolus				central_nervous_system(2)|ovary(1)	3						CCACGGTACTCTCTGCATGCC	0.577		NaN											0	0	0	0.01441	0	62	127				
URB2	9816	broad.mit.edu	37	1	229772944	229772944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229772944G>A	uc001hts.1	+	4	2720	c.2584G>A	c.(2584-2586)GAA>AAA	p.E862K	URB2_uc009xfd.1_Missense_Mutation_p.E862K	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	862						nucleolus				central_nervous_system(2)|ovary(1)	3						AGCTGGACCCGAAGGTATAGA	0.498		NaN											0	0	0	0.010504	0	21	144				
URB2	9816	broad.mit.edu	37	1	229773668	229773668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229773668C>T	uc001hts.1	+	4	3444	c.3308C>T	c.(3307-3309)TCA>TTA	p.S1103L	URB2_uc009xfd.1_Missense_Mutation_p.S1103L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1103						nucleolus				central_nervous_system(2)|ovary(1)	3						CAGCTCTGCTCAGTGCCGGGG	0.647		NaN											0	0	0	0.010504	0	17	69				
COG2	22796	broad.mit.edu	37	1	230819378	230819378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:230819378C>T	uc001htw.2	+	11	1376	c.1225C>T	c.(1225-1227)CCA>TCA	p.P409S	COG2_uc001htx.2_Missense_Mutation_p.P409S|COG2_uc010pwc.1_Missense_Mutation_p.P282S	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	409					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAGATGCCCCAGGTAACTC	0.393		NaN											0	0	0	0.013114	0	42	91				
FMN2	56776	broad.mit.edu	37	1	240341299	240341299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:240341299C>T	uc010pyd.1	+	3	2086	c.1861C>T	c.(1861-1863)CGA>TGA	p.R621*	FMN2_uc010pye.1_Nonsense_Mutation_p.R621*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	621					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTTTCCTAGGCGAGTTCCATC	0.448		NaN											0	0	0	0.007291	0	25	67				
EXO1	9156	broad.mit.edu	37	1	242048771	242048771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:242048771C>G	uc001hzh.2	+	15	2907	c.2367C>G	c.(2365-2367)ATC>ATG	p.I789M	EXO1_uc001hzi.2_Missense_Mutation_p.I789M|EXO1_uc001hzj.2_Missense_Mutation_p.I789M|EXO1_uc009xgq.2_Missense_Mutation_p.I788M	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	789	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTACAGATCAAACTCAATG	0.428		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.00278	0	20	89				
ADSS	159	broad.mit.edu	37	1	244614999	244614999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:244614999C>T	uc001iaj.2	-	1	415	c.121G>A	c.(121-123)GAA>AAA	p.E41K	C1orf101_uc001iak.1_5'Flank|ADSS_uc009xgr.1_RNA	NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	41	IMP binding (By similarity).|GTP.				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCTTTGCCTTCGTCGCCCCAC	0.736		NaN											0	0	0	0.000602	0	4	9				
OR2G2	81470	broad.mit.edu	37	1	247752506	247752506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:247752506C>T	uc010pyy.1	+	1	845	c.845C>T	c.(844-846)ACT>ATT	p.T282I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCTTCTACACTGTGGTAACC	0.348		NaN											0	0	0	0.01441	0	125	201				
SLC39A12	221074	broad.mit.edu	37	10	18331702	18331702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:18331702G>C	uc001ipo.2	+	13	2289	c.2016G>C	c.(2014-2016)TTG>TTC	p.L672F	SLC39A12_uc001ipn.2_Missense_Mutation_p.L635F|SLC39A12_uc001ipp.2_Missense_Mutation_p.L671F|SLC39A12_uc010qck.1_Missense_Mutation_p.L538F	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	672	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						ACTTTGGATTGATCCTAGGTT	0.338		NaN											0	0	0	0.003755	0	35	186				
CUL2	8453	broad.mit.edu	37	10	35317794	35317794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35317794G>A	uc001ixv.2	-	16	1771	c.1561C>T	c.(1561-1563)CAG>TAG	p.Q521*	CUL2_uc009xma.2_Nonsense_Mutation_p.Q390*|CUL2_uc010qer.1_Nonsense_Mutation_p.Q540*|CUL2_uc001ixw.2_Nonsense_Mutation_p.Q521*|CUL2_uc010qes.1_Nonsense_Mutation_p.Q458*	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	521					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						GAAGGAGCCTGAGTAAGAGGC	0.308		NaN											0	0	0	0.008871	0	19	35				
FZD8	8325	broad.mit.edu	37	10	35929518	35929518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35929518C>G	uc001iyz.1	-	1	845	c.840G>C	c.(838-840)TGG>TGC	p.W280C		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	280	Helical; Name=1; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						ACAGGCCGATCCAGAAGACGG	0.612		NaN											0	0	0	0.004672	0	3	45				
HNRNPF	3185	broad.mit.edu	37	10	43883236	43883236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:43883236C>T	uc009xmh.1	-	3	584	c.97G>A	c.(97-99)GAC>AAC	p.D33N	HNRNPF_uc001jar.2_Missense_Mutation_p.D33N|HNRNPF_uc001jas.2_Missense_Mutation_p.D33N|HNRNPF_uc001jat.2_Missense_Mutation_p.D33N|HNRNPF_uc001jav.2_Missense_Mutation_p.D33N|HNRNPF_uc001jau.2_Missense_Mutation_p.D33N	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	33	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						ATCGTGCAGTCAGAGAGGAAG	0.552		NaN											0	0	0	0.007413	0	20	79				
ZNF239	8187	broad.mit.edu	37	10	44052855	44052855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:44052855G>A	uc001jaw.3	-	2	1326	c.673C>T	c.(673-675)CAT>TAT	p.H225Y	ZNF239_uc001jax.3_Missense_Mutation_p.H225Y|ZNF239_uc009xmj.2_Missense_Mutation_p.H225Y|ZNF239_uc009xmk.2_Missense_Mutation_p.H225Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	225	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						TCTCTCTGATGAAGTAGTAGC	0.458		NaN											0	0	0	0.005443	0	28	223				
FRMPD2	143162	broad.mit.edu	37	10	49450206	49450206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:49450206C>T	uc001jgi.2	-	5	672	c.565G>A	c.(565-567)GAG>AAG	p.E189K	FRMPD2_uc001jgh.2_Missense_Mutation_p.E158K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E167K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	189	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CTACTGACCTCAGAAATGGTA	0.299		NaN											0	0	0	0.008871	0	19	139				
BICC1	80114	broad.mit.edu	37	10	60273078	60273078	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:60273078G>A	uc001jki.1	+	1	175	c.175G>A	c.(175-177)GAG>AAG	p.E59K		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	59					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GAAGAAACTTGAGGCCATGTT	0.657		NaN											0	0	0	0.012319	0	20	34				
HK1	3098	broad.mit.edu	37	10	71144211	71144211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:71144211G>A	uc001jpl.3	+	11	1794	c.1693G>A	c.(1693-1695)GAA>AAA	p.E565K	HK1_uc001jpg.3_Missense_Mutation_p.E553K|HK1_uc001jph.3_Missense_Mutation_p.E569K|HK1_uc001jpi.3_Missense_Mutation_p.E569K|HK1_uc001jpj.3_Missense_Mutation_p.E600K|HK1_uc001jpk.3_Missense_Mutation_p.E564K|HK1_uc009xqd.2_Missense_Mutation_p.E443K	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	565	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CATTCCTATTGAAATCATGCA	0.498		NaN											0	0	0	0.013726	0	34	91				
PRF1	5551	broad.mit.edu	37	10	72358051	72358051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:72358051C>T	uc009xqg.2	-	3	1587	c.1426G>A	c.(1426-1428)GGG>AGG	p.G476R	PRF1_uc001jrf.3_Missense_Mutation_p.G476R	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	476	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CTCAGGGGCCCCCCTGTGGCC	0.607		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.008361	0	29	82				
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:75609037G>A	uc001jvv.1	-	6	496	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	132	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CCCTGTGGACGATGTCATGCT	0.522		NaN									OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	6	23				
BTAF1	9044	broad.mit.edu	37	10	93719635	93719635	+	Missense_Mutation	SNP	G	G	A	rs112687582		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:93719635G>A	uc001khr.2	+	10	1182	c.1084G>A	c.(1084-1086)GAA>AAA	p.E362K	BTAF1_uc009xua.1_RNA|BTAF1_uc001khs.1_Missense_Mutation_p.E32K	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	362					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TGTTTCTGATGAAGTAAGTAT	0.348		NaN											0	0	0	0.007835	0	41	80				
IDE	3416	broad.mit.edu	37	10	94267358	94267358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94267358G>C	uc001kia.2	-	9	1295	c.1219C>G	c.(1219-1221)CAA>GAA	p.Q407E		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	407					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCCATTCTTGAGGTCCTTCT	0.328		NaN											0	0	0	0.013726	0	33	172				
EXOC6	54536	broad.mit.edu	37	10	94757311	94757311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94757311G>C	uc001kig.2	+	19	2100	c.2034G>C	c.(2032-2034)GAG>GAC	p.E678D	EXOC6_uc010qnr.1_Missense_Mutation_p.E694D|EXOC6_uc001kie.2_Missense_Mutation_p.E673D|EXOC6_uc009xub.2_Missense_Mutation_p.E677D|EXOC6_uc009xuc.2_Missense_Mutation_p.E575D|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.E252D	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	678					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TGGACAGTGAGTTAAAACAAA	0.368		NaN											0	0	0	0.006214	0	10	81				
ALDH18A1	5832	broad.mit.edu	37	10	97376261	97376261	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:97376261G>A	uc001kkz.2	-	13	1820	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	ALDH18A1_uc001kky.2_Silent_p.I524I|ALDH18A1_uc010qog.1_Silent_p.I415I|ALDH18A1_uc010qoh.1_Silent_p.I314I	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	526	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TGACTCCATGGATTGAGAGAG	0.547		NaN											0	0	0	0.009096	0	4	3				
DNTT	1791	broad.mit.edu	37	10	98078150	98078150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:98078150C>T	uc001kmf.2	+	2	415	c.245C>T	c.(244-246)TCG>TTG	p.S82L	DNTT_uc001kmg.2_Missense_Mutation_p.S82L	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	82	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACTCGGGTTCGGATGTTCTG	0.473		NaN											0	0	0	0.010771	0	42	251				
ARHGAP19	84986	broad.mit.edu	37	10	99023225	99023225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:99023225C>T	uc001knb.2	-	4	594	c.565G>A	c.(565-567)GAG>AAG	p.E189K	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.E180K|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.E189K|ARHGAP19_uc009xvk.2_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	189	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGCAGAGGCTCCGGCAACTCT	0.403		NaN											0	0	0	0.01441	0	58	169				
ENTPD7	57089	broad.mit.edu	37	10	101445633	101445633	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:101445633G>A	uc001kqa.3	+	6	811	c.633G>A	c.(631-633)GTG>GTA	p.V211V	ENTPD7_uc009xwl.2_Silent_p.V213V	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	211	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AAGCAGAAGTGATCTCTGGGA	0.468		NaN											0	0	0	0.00623	0	39	57				
PDZD7	79955	broad.mit.edu	37	10	102777862	102777862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:102777862C>T	uc001kso.1	-	9	1731	c.1516G>A	c.(1516-1518)GAG>AAG	p.E506K	PDZD7_uc001ksn.2_Missense_Mutation_p.E506K	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	506						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TTACCTTTCTCTATGTCCAGG	0.418		NaN											0	0	0	0.010729	0	9	88				
FGF8	2253	broad.mit.edu	37	10	103531247	103531247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103531247C>T	uc001ktp.1	-	5	554	c.384G>A	c.(382-384)ATG>ATA	p.M128I	FGF8_uc001ktq.1_Missense_Mutation_p.M139I|FGF8_uc001ktr.1_Missense_Mutation_p.M110I|FGF8_uc001kts.1_Missense_Mutation_p.M99I|FGF8_uc009xwr.1_Missense_Mutation_p.M35I	NM_033164	NP_149354	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform E precursor	128					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCTTCTTGTTCATGCAGATGT	0.607		NaN											0	0	0	0.00499	0	16	30				
PPRC1	23082	broad.mit.edu	37	10	103900177	103900177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900177G>A	uc001kum.2	+	5	1951	c.1912G>A	c.(1912-1914)GAC>AAC	p.D638N	PPRC1_uc001kun.2_Missense_Mutation_p.D518N|PPRC1_uc010qqj.1_Missense_Mutation_p.D638N|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCCTGGCTGACTCAGCAGC	0.562		NaN											0	0	0	0.006122	0	18	69				
PPRC1	23082	broad.mit.edu	37	10	103900464	103900464	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900464G>A	uc001kum.2	+	5	2238	c.2199G>A	c.(2197-2199)CTG>CTA	p.L733L	PPRC1_uc001kun.2_Silent_p.L613L|PPRC1_uc010qqj.1_Silent_p.L733L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGATTCTCTGAAAATTGAAA	0.547		NaN											0	0	0	0.008361	0	28	84				
PPRC1	23082	broad.mit.edu	37	10	103901412	103901412	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103901412G>A	uc001kum.2	+	5	3186	c.3147G>A	c.(3145-3147)CAG>CAA	p.Q1049Q	PPRC1_uc001kun.2_Silent_p.Q929Q|PPRC1_uc010qqj.1_Silent_p.Q1049Q|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1049	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCTCCTCAGACAGAGCCTA	0.582		NaN											0	0	0	0.009096	0	4	26				
LOC729020	729020	broad.mit.edu	37	10	105006301	105006301	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105006301T>C	uc009xxi.2	+	1	658	c.548T>C	c.(547-549)GTC>GCC	p.V183A	uc001kwr.2_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	rcRPE protein	183					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity				0						TCTGACACTGTCCATAAGTGT	0.448		NaN											0	0	0	0.010504	0	22	51				
C10orf79	80217	broad.mit.edu	37	10	105990389	105990389	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105990389A>G	uc001kxw.2	-	2	394	c.278T>C	c.(277-279)GTA>GCA	p.V93A	C10orf79_uc001kxx.3_Missense_Mutation_p.V93A|C10orf79_uc001kxy.1_Missense_Mutation_p.V93A|C10orf79_uc001kxz.2_Missense_Mutation_p.V93A	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	93											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		AAAGCTGTATACGTAGATGAG	0.428		NaN											0	0	0	0.01441	0	51	103				
ADRA2A	150	broad.mit.edu	37	10	112839122	112839122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:112839122C>T	uc001kzo.2	+	1	2333	c.1368C>T	c.(1366-1368)CTC>CTT	p.L456L		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	441	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	AGAAGATCCTCTGTCGGGGGG	0.592		NaN											0	0	0	0.004007	0	14	77				
TACC2	10579	broad.mit.edu	37	10	123844346	123844346	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:123844346G>A	uc001lfv.2	+	4	2691	c.2331G>A	c.(2329-2331)GGG>GGA	p.G777G	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.G777G|TACC2_uc010qtv.1_Silent_p.G777G	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	777						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCATGCTGGGGTGCCACATC	0.632		NaN											0	0	0	0.009718	0	40	64				
DOCK1	1793	broad.mit.edu	37	10	129245729	129245729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129245729G>A	uc001ljt.2	+	51	5486	c.5422G>A	c.(5422-5424)GTG>ATG	p.V1808M	DOCK1_uc010qun.1_Missense_Mutation_p.V1829M|DOCK1_uc009yaq.2_Missense_Mutation_p.R807H|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1808	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAAAGGCAGCGTGGCAGATTA	0.572		NaN											0	0	0	0.00308	0	7	15				
MKI67	4288	broad.mit.edu	37	10	129913744	129913744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129913744C>T	uc001lke.2	-	7	1123	c.928G>A	c.(928-930)GAA>AAA	p.E310K	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	310					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCTCTTGTTCAGGTGAAGCA	0.572		NaN											0	0	0	0.014323	0	22	110				
PWWP2B	170394	broad.mit.edu	37	10	134219559	134219559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:134219559G>A	uc001lll.3	+	2	1584	c.1555G>A	c.(1555-1557)GGA>AGA	p.G519R	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	519	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAAGGAGGACGGAGAGCCGTC	0.537		NaN											0	0	0	0.004007	0	16	84				
MTG1	92170	broad.mit.edu	37	10	135213089	135213089	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:135213089C>T	uc001lnd.2	+	6	581	c.477C>T	c.(475-477)CTC>CTT	p.L159L	MTG1_uc010qve.1_Intron	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	GTP_binding protein precursor	159	G.					mitochondrion	GTP binding|protein binding			skin(1)	1		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AGTCCTCCCTCATCAACTCCC	0.622		NaN											0	0	0	0.005443	0	27	55				
MUC6	4588	broad.mit.edu	37	11	1025893	1025893	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:1025893G>C	uc001lsw.2	-	22	2762	c.2711C>G	c.(2710-2712)TCA>TGA	p.S904*		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	904	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGGCTGTGAGTCGTTGAC	0.652		NaN											0	0	0	0.001168	0	6	17				
OR51A7	119687	broad.mit.edu	37	11	4928820	4928821	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:4928820_4928821CC>TT	uc010qyq.1	+	1	221_222	c.221_222CC>TT	c.(220-222)TCC>TTT	p.S74F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCCTGTCCCTCTCCTCCC	0.46		NaN											0	0	0	0.004672	0	7	176				
OR51Q1	390061	broad.mit.edu	37	11	5444186	5444186	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:5444186C>G	uc010qzd.1	+	1	756	c.756C>G	c.(754-756)GTC>GTG	p.V252V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCCTGGTCCTCTACATTC	0.502		NaN											0	0	0	0.006122	0	16	110				
SMPD1	6609	broad.mit.edu	37	11	6412757	6412757	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6412757C>G	uc001mcw.2	+	2	636	c.462C>G	c.(460-462)AGC>AGG	p.S154R	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.S154R|SMPD1_uc009yew.2_Missense_Mutation_p.S153R	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	152	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAGTGCTGAGCCCATCTGAGG	0.572		NaN											0	0	0	0.004007	0	16	23				
APBB1	322	broad.mit.edu	37	11	6432430	6432430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6432430G>C	uc001mdb.1	-	2	248	c.148C>G	c.(148-150)CTG>GTG	p.L50V	APBB1_uc001mdc.1_Missense_Mutation_p.L50V|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	50					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCGCTGCGCAGGTCCTTGGGT	0.697		NaN											0	0	0	0.006122	0	18	114				
OR10A2	341276	broad.mit.edu	37	11	6891489	6891489	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6891489C>A	uc001meu.1	+	1	504	c.504C>A	c.(502-504)AGC>AGA	p.S168R		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTGTGACAGCCCACCTGTGC	0.532		NaN											1	0	1.10923e-09	0.00278	1.14699e-09	19	185				
SBF2	81846	broad.mit.edu	37	11	9806738	9806738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:9806738G>A	uc001mib.2	-	37	5303	c.5165C>T	c.(5164-5166)TCC>TTC	p.S1722F	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.S366F|SBF2_uc001mic.2_Missense_Mutation_p.S12F|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1722					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTCCATTGGATGGGGAGAT	0.507		NaN											0	0	0	0.013537	0	13	66				
MICAL2	9645	broad.mit.edu	37	11	12278388	12278388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:12278388C>G	uc001mjz.2	+	24	3300	c.3012C>G	c.(3010-3012)TTC>TTG	p.F1004L	MICAL2_uc010rch.1_Missense_Mutation_p.F814L|MICAL2_uc001mka.2_Missense_Mutation_p.F1004L|MICAL2_uc010rci.1_Missense_Mutation_p.F983L|MICAL2_uc001mkb.2_Missense_Mutation_p.F778L|MICAL2_uc001mkc.2_Missense_Mutation_p.F757L|MICAL2_uc001mkd.2_Missense_Mutation_p.F586L|MICAL2_uc010rcj.1_Missense_Mutation_p.F216L|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	1004	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CGTGTTACTTCTGTAAGAAAC	0.557		NaN											0	0	0	0.006214	0	10	49				
PRRG4	79056	broad.mit.edu	37	11	32858272	32858272	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:32858272G>C	uc001mtx.2	+	3	425	c.172G>C	c.(172-174)GAG>CAG	p.E58Q		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4	58	Extracellular (Potential).|Gla.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding				0	Breast(20;0.206)					ATTTGATCTGGAGCTCTTCAC	0.348		NaN											0	0	0	0.00245	0	15	67				
TRIM44	54765	broad.mit.edu	37	11	35684687	35684687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:35684687G>A	uc001mwi.2	+	1	335	c.28G>A	c.(28-30)GAG>AAG	p.E10K		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	10						intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CGCGGCCTTCGAGGAACTGCC	0.716		NaN											0	0	0	0.00308	0	6	19				
LRRC4C	57689	broad.mit.edu	37	11	40137629	40137629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:40137629C>T	uc001mxa.1	-	2	2178	c.214G>A	c.(214-216)GAT>AAT	p.D72N	LRRC4C_uc001mxc.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D68N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	72	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGATGCCATCCGGAACCTCA	0.527		NaN											0	0	0	0.003954	0	24	46				
OR4A47	403253	broad.mit.edu	37	11	48510885	48510885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:48510885C>G	uc010rhx.1	+	1	541	c.541C>G	c.(541-543)CCC>GCC	p.P181A		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181L(1)		ovary(1)|skin(1)	2						TGACATGTATCCCTTATTGAA	0.443		NaN											0	0	0	0.00245	0	15	280				
TMX2	51075	broad.mit.edu	37	11	57506699	57506699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57506699G>C	uc001nlc.1	+	7	760	c.711G>C	c.(709-711)AAG>AAC	p.K237N	CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.K143N|TMX2_uc001nle.1_Missense_Mutation_p.K199N|C11orf31_uc010rjx.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	237	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis	integral to membrane					0						AGATTGACAAGAAAGGACGGG	0.453		NaN											0	0	0	0.00499	0	16	110				
OR6Q1	219952	broad.mit.edu	37	11	57798494	57798494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57798494G>A	uc010rjz.1	+	1	70	c.70G>A	c.(70-72)GAA>AAA	p.E24K	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCATCCATGAAGCACACCT	0.468		NaN											0	0	0	0.01441	0	111	305				
LPXN	9404	broad.mit.edu	37	11	58322349	58322349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58322349C>T	uc001nmw.2	-	4	428	c.283G>A	c.(283-285)GAG>AAG	p.E95K	LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E100K|LPXN_uc010rkk.1_Missense_Mutation_p.E75K	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	95	LD motif 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCCATGAGCTCATCCAACTGA	0.498		NaN											0	0	0	0.000602	0	4	61				
GLYAT	10249	broad.mit.edu	37	11	58478139	58478139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58478139C>T	uc001nnb.2	-	5	567	c.412G>A	c.(412-414)GAA>AAA	p.E138K	GLYAT_uc001nnc.2_Missense_Mutation_p.E138K	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	138					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTGGCTGTTTCAGCTGCCATA	0.423		NaN											0	0	0	0.013114	0	39	199				
MPEG1	219972	broad.mit.edu	37	11	58978821	58978821	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58978821G>C	uc001nnu.3	-	1	1674	c.1518C>G	c.(1516-1518)CTC>CTG	p.L506L		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	506	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				GGTTTTCAAAGAGTCTCAGTG	0.512		NaN											0	0	0	0.008871	0	19	97				
OSBP	5007	broad.mit.edu	37	11	59349008	59349008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:59349008G>A	uc001noc.1	-	10	2178	c.1698C>T	c.(1696-1698)TTC>TTT	p.F566F	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	566					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGTTGCATGGAAAATACAAT	0.413		NaN											0	0	0	0.008871	0	21	149				
MS4A1	931	broad.mit.edu	37	11	60229875	60229875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:60229875G>A	uc001npp.2	+	3	444	c.28G>A	c.(28-30)GGG>AGG	p.G10R	MS4A1_uc009ymy.1_Missense_Mutation_p.G10R|MS4A1_uc001npq.2_Missense_Mutation_p.G10R|MS4A1_uc009yna.2_Missense_Mutation_p.G10R|MS4A1_uc009ymz.2_Missense_Mutation_p.G10R|MS4A1_uc010rlc.1_Missense_Mutation_p.G10R	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	10	Cytoplasmic (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TTCAGTAAATGGGACTTTCCC	0.433		NaN											0	0	0	0.00623	0	36	85				
EEF1G	1937	broad.mit.edu	37	11	62334336	62334336	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:62334336C>T	uc001ntm.1	-	7	945	c.799G>A	c.(799-801)GAG>AAG	p.E267K	EEF1G_uc010rlw.1_Missense_Mutation_p.E317K|EEF1G_uc001ntn.1_Missense_Mutation_p.E147K	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	267					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGCGCCTGCTCACATTCATCC	0.602		NaN											0	0	0	0.010818	0	31	53				
HRASLS5	117245	broad.mit.edu	37	11	63235859	63235859	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:63235859C>A	uc001nwy.2	-	4	628	c.454G>T	c.(454-456)GAT>TAT	p.D152Y	HRASLS5_uc001nwz.2_Missense_Mutation_p.D142Y|HRASLS5_uc010rmq.1_Missense_Mutation_p.D152Y|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	152										ovary(1)	1						ACGCAATCATCTTCTACATAG	0.388		NaN											1	0	1.13719e-10	0.008361	1.18005e-10	29	192				
ATG2A	23130	broad.mit.edu	37	11	64668054	64668054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:64668054G>C	uc001obx.2	-	31	4491	c.4376C>G	c.(4375-4377)TCT>TGT	p.S1459C	ATG2A_uc001obw.2_Missense_Mutation_p.S224C	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1459							protein binding			ovary(1)|central_nervous_system(1)	2						GTTGGGGCCAGAGCAGCGGGA	0.667		NaN											0	0	0	0.008291	0	10	45				
RELA	5970	broad.mit.edu	37	11	65421919	65421919	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65421919G>A	uc001ofg.2	-	11	1726	c.1586C>T	c.(1585-1587)TCA>TTA	p.S529L	RELA_uc001ofh.2_Missense_Mutation_p.S526L|RELA_uc010ron.1_Missense_Mutation_p.S540L|RELA_uc009yqr.2_Missense_Mutation_p.S476L|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Missense_Mutation_p.S426L	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	529					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TTCATCTCCTGAAAGGAGGCC	0.632		NaN											0	0	0	0.014323	0	23	56				
SF3B2	10992	broad.mit.edu	37	11	65824745	65824745	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65824745C>G	uc001ogy.1	+	7	716	c.676C>G	c.(676-678)CCA>GCA	p.P226A		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	226					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						AGTAGCTGCTCCAGTGGGCCC	0.542		NaN											0	0	0	0.011902	0	37	214				
RBM4	5936	broad.mit.edu	37	11	66410998	66410998	+	Silent	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66410998C>A	uc009yrj.2	+	3	978	c.490C>A	c.(490-492)CGG>AGG	p.R164R	RBM4_uc009yrk.2_Silent_p.R139R|RBM4_uc001oiw.1_Silent_p.R164R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R164R|RBM4_uc001oiz.1_Silent_p.R164R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	164	CCHC-type.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGGCTGCTATCGGTGCGGGAA	0.567		NaN											1	0	0.000274275	0.004482	0.000279026	7	53				
RBM4B	83759	broad.mit.edu	37	11	66444285	66444285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66444285C>T	uc001oja.2	-	1	935	c.266G>A	c.(265-267)TGT>TAT	p.C89Y	RBM4B_uc001ojb.2_Missense_Mutation_p.C89Y	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	89	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						TTGGTTGGTACAAGTGGGGCT	0.488		NaN											0	0	0	0.01441	0	124	295				
TPCN2	219931	broad.mit.edu	37	11	68838874	68838874	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:68838874C>T	uc001oos.2	+	10	1062	c.946C>T	c.(946-948)CGG>TGG	p.R316W	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.R231W|TPCN2_uc010rqg.1_Missense_Mutation_p.R316W|TPCN2_uc001oot.2_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	316	Cytoplasmic (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGTCAGTTCCGGGGCTACCT	0.602		NaN											0	0	0	0.000602	0	5	12				
PIWIL4	143689	broad.mit.edu	37	11	94340677	94340677	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:94340677C>T	uc001pfa.2	+	14	1922	c.1711C>T	c.(1711-1713)CCA>TCA	p.P571S	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	571	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTCAGACTGCCCAGTCCCAAG	0.423		NaN											0	0	0	0.005443	0	26	48				
RDX	5962	broad.mit.edu	37	11	110124732	110124732	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:110124732T>C	uc001pku.2	-	9	1208	c.898A>G	c.(898-900)ATT>GTT	p.I300V	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.I300V|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.I164V	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	300					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTACTTCAATAGTATCAGGC	0.408		NaN											0	0	0	0.008361	0	32	95				
BUD13	84811	broad.mit.edu	37	11	116640940	116640940	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:116640940T>C	uc001ppn.2	-	2	178	c.144_splice	c.e2-1	p.G48_splice	BUD13_uc001ppo.2_Splice_Site_p.G48_splice|BUD13_uc009yzc.2_Splice_Site_p.G48_splice	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1											large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCCGCATTCTAAATGAGAAT	0.368		NaN											0	0	0	0.00245	0	13	57				
MLL	4297	broad.mit.edu	37	11	118344511	118344511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:118344511G>A	uc001pta.2	+	3	2660	c.2637G>A	c.(2635-2637)GAG>GAA	p.E879E	MLL_uc001ptb.2_Silent_p.E879E|MLL_uc001psz.1_Silent_p.E912E|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	879					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		gagaccgggagagagaaaagg	0.274		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.00278	0	23	54				
TRIM29	23650	broad.mit.edu	37	11	120008356	120008356	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120008356G>C	uc001pwz.2	-	1	508	c.384C>G	c.(382-384)CGC>CGG	p.R128R	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	128					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAATGGACTTGCGCAGCTCGC	0.637		NaN											0	0	0	0.00874	0	40	215				
GRIK4	2900	broad.mit.edu	37	11	120673512	120673512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120673512G>C	uc001pxn.2	+	4	480	c.193G>C	c.(193-195)GAA>CAA	p.E65Q	GRIK4_uc009zav.1_Missense_Mutation_p.E65Q|GRIK4_uc009zaw.1_Missense_Mutation_p.E65Q|GRIK4_uc009zax.1_Missense_Mutation_p.E65Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	65	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCCAAGGTCGAAGTGGACAT	0.602		NaN									OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	12	67				
ROBO4	54538	broad.mit.edu	37	11	124757737	124757737	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124757737C>T	uc001qbg.2	-	13	2089	c.1949_splice	c.e13-1	p.E650_splice	ROBO4_uc010sas.1_Splice_Site_p.E505_splice|ROBO4_uc001qbh.2_Splice_Site_p.E540_splice|ROBO4_uc001qbi.2_Splice_Site_p.E208_splice|ROBO4_uc010sat.1_Intron	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout						angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCTGCAGCTCTGCAAAGAAA	0.562		NaN											0	0	0	0.001855	0	14	45				
SLC37A2	219855	broad.mit.edu	37	11	124949113	124949113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124949113C>T	uc001qbn.2	+	5	671	c.420C>T	c.(418-420)ATC>ATT	p.I140I	SLC37A2_uc010sau.1_Silent_p.I140I	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	140					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCTGGAACATCCACGAGCTCT	0.557		NaN											0	0	0	0.007291	0	29	133				
ARHGAP32	9743	broad.mit.edu	37	11	128910840	128910840	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:128910840T>C	uc009zcp.2	-	10	986	c.986A>G	c.(985-987)AAC>AGC	p.N329S	ARHGAP32_uc009zcq.1_Missense_Mutation_p.N289S|ARHGAP32_uc001qfb.2_Missense_Mutation_p.N114S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	329					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGGCACTGAGTTGGTCACTGA	0.398		NaN											0	0	0	0.000602	0	5	17				
BARX2	8538	broad.mit.edu	37	11	129246012	129246012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246012G>A	uc001qfc.3	+	1	132	c.82G>A	c.(82-84)GAC>AAC	p.D28N		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	BarH-like homeobox 2	28											0	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TTTCATGATCGACGAGATCCT	0.617		NaN									OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	62	131				
BARX2	8538	broad.mit.edu	37	11	129246023	129246023	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246023C>G	uc001qfc.3	+	1	143	c.93C>G	c.(91-93)CTC>CTG	p.L31L		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	BarH-like homeobox 2	31											0	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACGAGATCCTCTCCAAGGAGA	0.597		NaN									OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	33	178				
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:130785628G>A	uc001qgk.3	-	1	755	c.207C>T	c.(205-207)CTC>CTT	p.L69L	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602		NaN											0	0	0	0.013537	0	8	37				
CCDC77	84318	broad.mit.edu	37	12	538021	538021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:538021C>T	uc001qig.2	+	6	680	c.500C>T	c.(499-501)CCT>CTT	p.P167L	CCDC77_uc009zdk.2_Missense_Mutation_p.P135L|CCDC77_uc010sdp.1_Missense_Mutation_p.P135L|CCDC77_uc010sdq.1_Missense_Mutation_p.P135L	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	167						centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGTAAGGAGCCTCCTCACAAA	0.443		NaN											0	0	0	0.01441	0	70	167				
NCAPD2	9918	broad.mit.edu	37	12	6626188	6626188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626188G>C	uc001qoo.2	+	10	1228	c.1182G>C	c.(1180-1182)CAG>CAC	p.Q394H	NCAPD2_uc009zen.1_Missense_Mutation_p.Q266H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q349H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	394	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TTGTCCAGCAGAAGGTAACCA	0.458		NaN											0	0	0	0.009535	0	31	154				
NCAPD2	9918	broad.mit.edu	37	12	6626830	6626830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626830G>C	uc001qoo.2	+	12	1435	c.1389G>C	c.(1387-1389)CAG>CAC	p.Q463H	NCAPD2_uc009zen.1_Missense_Mutation_p.Q335H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q418H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	463	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TGAGGGCCCAGAGGCGAACTG	0.483		NaN											0	0	0	0.000602	0	5	51				
ZNF384	171017	broad.mit.edu	37	12	6777233	6777233	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6777233G>T	uc010sfh.1	-	11	1589	c.1381C>A	c.(1381-1383)CAG>AAG	p.Q461K	ZNF384_uc001qpz.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqa.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqb.2_Missense_Mutation_p.Q384K|ZNF384_uc001qqc.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqd.2_Missense_Mutation_p.Q345K|ZNF384_uc001qqe.2_Missense_Mutation_p.Q384K	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	461	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						acctgttgctgAAGATCAGGC	0.204		NaN	T	EWSR1|TAF15 	ALL								1	0	9.31168e-06	0.001855	9.5059e-06	10	49				
CD163L1	283316	broad.mit.edu	37	12	7559389	7559389	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:7559389C>G	uc001qsy.2	-	5	852	c.826G>C	c.(826-828)GAG>CAG	p.E276Q	CD163L1_uc010sge.1_Missense_Mutation_p.E286Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	276	SRCR 3.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ATTTTCAGCTCTACTCTCCCC	0.473		NaN											0	0	0	0.012319	0	19	110				
CLEC9A	283420	broad.mit.edu	37	12	10218209	10218209	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:10218209A>C	uc001qxa.2	+	9	1317	c.704A>C	c.(703-705)TAT>TCT	p.Y235S		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	235	Extracellular (Potential).				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						TGTGAGAAGTATGCGTTGAGA	0.448		NaN											0	0	0	0.013726	0	31	145				
DUSP16	80824	broad.mit.edu	37	12	12630725	12630725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630725G>A	uc001rao.1	-	7	1672	c.1040C>T	c.(1039-1041)TCA>TTA	p.S347L	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S199L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	347					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGCTGCCTCTGAGGTAGCAGA	0.537		NaN											0	0	0	0.008361	0	27	46				
DUSP16	80824	broad.mit.edu	37	12	12630832	12630832	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630832G>C	uc001rao.1	-	7	1565	c.933C>G	c.(931-933)CTC>CTG	p.L311L	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.L163L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	311					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCAGCAGCTTGAGTTTGCTCT	0.517		NaN											0	0	0	0.01441	0	49	92				
DUSP16	80824	broad.mit.edu	37	12	12630910	12630910	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630910G>A	uc001rao.1	-	7	1487	c.855C>T	c.(853-855)TTC>TTT	p.F285F	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.F137F	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	285	Tyrosine-protein phosphatase.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAGAAAATTGAAGTTTGGAG	0.398		NaN											0	0	0	0.01441	0	60	152				
ETNK1	55500	broad.mit.edu	37	12	22778128	22778128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:22778128G>A	uc001rft.2	+	1	53	c.31G>A	c.(31-33)GAC>AAC	p.D11N	ETNK1_uc009ziz.2_Missense_Mutation_p.D11N|ETNK1_uc001rfs.2_Missense_Mutation_p.D11N	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	11					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						GTCCAGCTCCGACAACAGGAA	0.716		NaN											0	0	0	0.009096	0	3	5				
C12orf11	55726	broad.mit.edu	37	12	27067466	27067466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27067466C>G	uc001rhk.3	-	12	1831	c.1294G>C	c.(1294-1296)GAC>CAC	p.D432H	C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Missense_Mutation_p.D331H	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	432					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					TATCTGGGGTCTAGAAAAGGA	0.348		NaN											0	0	0	0.00499	0	17	63				
KLHDC5	57542	broad.mit.edu	37	12	27933977	27933977	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27933977C>T	uc001rij.2	+	1	791	c.714C>T	c.(712-714)CCC>CCT	p.P238P	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	238	Kelch 2.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					ACCTTCCTCCCGACCTGGTCA	0.622		NaN											0	0	0	0.001984	0	7	15				
TMTC1	83857	broad.mit.edu	37	12	29757224	29757224	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:29757224C>T	uc001rjb.2	-	7	1287	c.813G>A	c.(811-813)GAG>GAA	p.E271E	TMTC1_uc001riz.2_Silent_p.E28E|TMTC1_uc001rja.2_Silent_p.E115E|TMTC1_uc001rjc.1_Silent_p.E333E	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	379						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCTCCTTGTGCTCCAGTCTCT	0.468		NaN											0	0	0	0.004482	0	9	30				
DENND5B	160518	broad.mit.edu	37	12	31613259	31613259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:31613259G>A	uc001rki.1	-	4	1147	c.961C>T	c.(961-963)CAA>TAA	p.Q321*	DENND5B_uc001rkh.1_Nonsense_Mutation_p.Q356*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.Q240*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.Q343*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.Q243*	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	321	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						TGTTGCCATTGAAATGGGAAC	0.438		NaN											0	0	0	0.014323	0	23	33				
PDZRN4	29951	broad.mit.edu	37	12	41967407	41967407	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:41967407C>T	uc010skn.1	+	10	2297	c.2229C>T	c.(2227-2229)AGC>AGT	p.S743S	PDZRN4_uc001rmq.3_Silent_p.S684S|PDZRN4_uc009zjz.2_Silent_p.S682S|PDZRN4_uc001rmr.2_Silent_p.S569S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	942							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTACTGGAGCAAAGAGGAGA	0.542		NaN											0	0	0	0.00499	0	17	41				
PRICKLE1	144165	broad.mit.edu	37	12	42854114	42854114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:42854114C>A	uc010skv.1	-	8	2280	c.1993G>T	c.(1993-1995)GAG>TAG	p.E665*	PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	665	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GATCCCCTCTCTTCAAAATTG	0.483		NaN											1	0	0.000566183	0.00499	0.000575326	17	79				
ANO6	196527	broad.mit.edu	37	12	45782045	45782045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:45782045G>A	uc001roo.2	+	11	1602	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K	ANO6_uc010sld.1_Missense_Mutation_p.E423K|ANO6_uc010sle.1_Missense_Mutation_p.E423K|ANO6_uc010slf.1_Missense_Mutation_p.E444K|ANO6_uc010slg.1_Missense_Mutation_p.E405K	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	423	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACCAGAATACGAAGCACGATG	0.403		NaN											0	0	0	0.01441	0	55	128				
TROAP	10024	broad.mit.edu	37	12	49721057	49721057	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49721057C>G	uc001rtx.3	+	8	1002	c.835C>G	c.(835-837)CTT>GTT	p.L279V	TROAP_uc009zlh.2_Missense_Mutation_p.L279V|TROAP_uc001rty.2_5'UTR	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	279					cell adhesion	cytoplasm				ovary(1)	1						TGTGGCCTCTCTTGGTCTGGC	0.512		NaN											0	0	0	0.00278	0	21	146				
SPATS2	65244	broad.mit.edu	37	12	49890687	49890687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49890687C>T	uc001rud.2	+	8	1587	c.598C>T	c.(598-600)CAA>TAA	p.Q200*	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q200*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q200*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q200*	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm				breast(1)	1						TCACAATTCTCAACAACCCAG	0.433		NaN											0	0	0	0.01441	0	62	126				
SPATS2	65244	broad.mit.edu	37	12	49918549	49918549	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49918549C>T	uc001rud.2	+	13	2185	c.1196C>T	c.(1195-1197)TCT>TTT	p.S399F	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.S399F|SPATS2_uc001ruf.2_Missense_Mutation_p.S399F|SPATS2_uc001rug.2_Missense_Mutation_p.S399F	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	399	Ser-rich.					cytoplasm				breast(1)	1						AGTGATGCCTCTGCTGCTTCC	0.493		NaN											0	0	0	0.01441	0	63	136				
TMPRSS12	283471	broad.mit.edu	37	12	51279160	51279160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51279160G>A	uc001rwx.3	+	4	831	c.784G>A	c.(784-786)GAT>AAT	p.D262N	TMPRSS12_uc001rwy.2_Missense_Mutation_p.D262N	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	262	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						TGGAGCTTTTGATACTTGCAG	0.378		NaN											0	0	0	0.01441	0	92	223				
DAZAP2	9802	broad.mit.edu	37	12	51634204	51634204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51634204C>G	uc010snd.1	+	2	275	c.91C>G	c.(91-93)CAG>GAG	p.Q31E	DAZAP2_uc001ryb.2_Missense_Mutation_p.Q31E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q31E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q31E|DAZAP2_uc010snf.1_Missense_Mutation_p.Q31E	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	31	Pro-rich.						WW domain binding				0						GCATCTTCCTCAGGCTCCACC	0.488		NaN											0	0	0	0.010504	0	21	115				
MFSD5	84975	broad.mit.edu	37	12	53647277	53647277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53647277C>T	uc001sci.1	+	2	849	c.658C>T	c.(658-660)CGA>TGA	p.R220*	MFSD5_uc001sch.1_Nonsense_Mutation_p.R327*	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	220					transport	integral to membrane				skin(2)|ovary(1)	3						CTTGGCCCTTCGAAACTGGGG	0.662		NaN											0	0	0	0.003271	0	32	79				
ESPL1	9700	broad.mit.edu	37	12	53677897	53677897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53677897G>A	uc001sck.2	+	17	3224	c.3133G>A	c.(3133-3135)GAT>AAT	p.D1045N	ESPL1_uc001scj.2_Missense_Mutation_p.D720N|ESPL1_uc010soe.1_Missense_Mutation_p.D256N	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1045					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CAATGACATTGATCTCTGTCA	0.542		NaN											0	0	0	0.01441	0	77	222				
HOXC6	3223	broad.mit.edu	37	12	54423560	54423560	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:54423560C>T	uc001sev.2	+	2	634	c.522C>T	c.(520-522)ATC>ATT	p.I174I	HOXC6_uc001ses.2_Silent_p.I92I|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	174	Homeobox.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						GCATCGAGATCGCCAACGCGC	0.562		NaN											0	0	0	0.00333	0	24	92				
DGKA	1606	broad.mit.edu	37	12	56334172	56334172	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56334172C>T	uc001sij.2	+	11	1137	c.873C>T	c.(871-873)ATC>ATT	p.I291I	DGKA_uc009zoc.1_Silent_p.I291I|DGKA_uc001sih.1_Silent_p.I179I|DGKA_uc001sii.1_Silent_p.I149I|DGKA_uc009zod.1_Silent_p.I210I|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.I291I|DGKA_uc001sil.2_Silent_p.I291I|DGKA_uc001sim.2_Silent_p.I291I|DGKA_uc001sin.2_Silent_p.I291I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Silent_p.I33I	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	291	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AGATCCGGATCTACCACAGTC	0.582		NaN									OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005524	0	38	84				
ESYT1	23344	broad.mit.edu	37	12	56536448	56536448	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56536448C>T	uc001sjq.2	+	26	2870	c.2820C>T	c.(2818-2820)CTC>CTT	p.L940L	ESYT1_uc001sjr.2_Silent_p.L950L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	940						integral to membrane				ovary(4)|skin(1)	5						AACCAGAGCTCTCGGGGGGAC	0.602		NaN											0	0	0	0.008291	0	11	60				
TIMELESS	8914	broad.mit.edu	37	12	56816695	56816695	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56816695A>C	uc001slf.2	-	19	2542	c.2374T>G	c.(2374-2376)TTG>GTG	p.L792V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	792					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TTCCAGAACAACAGCTCCACA	0.502		NaN											0	0	0	0.011902	0	47	102				
MYO1A	4640	broad.mit.edu	37	12	57436895	57436895	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57436895G>C	uc001smw.3	-	12	1302	c.1059C>G	c.(1057-1059)CTC>CTG	p.L353L	MYO1A_uc010sqz.1_Silent_p.L191L|MYO1A_uc009zpd.2_Silent_p.L353L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	353	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						TCCAGTCAAAGAGGCGGCTGT	0.547		NaN											0	0	0	0.001168	0	6	52				
MBD6	114785	broad.mit.edu	37	12	57920498	57920498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920498G>A	uc001soj.1	+	7	1794	c.1570G>A	c.(1570-1572)GAG>AAG	p.E524K	MBD6_uc001sok.1_Missense_Mutation_p.E391K|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	524	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCCAGCCCTGAGCAGGGCCT	0.652		NaN											0	0	0	0.00278	0	24	84				
OS9	10956	broad.mit.edu	37	12	58114292	58114292	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:58114292C>T	uc001spj.2	+	14	1928	c.1869C>T	c.(1867-1869)TTC>TTT	p.F623F	OS9_uc010srx.1_Silent_p.F362F|OS9_uc001spk.2_Silent_p.F608F|OS9_uc001spl.2_Silent_p.F568F|OS9_uc001spm.2_Silent_p.F553F|OS9_uc001spn.2_Silent_p.F569F|OS9_uc010sry.1_Silent_p.F536F|OS9_uc010srz.1_Silent_p.F494F	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	623					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGATCTTCTTCAATATCTTGG	0.299		NaN											0	0	0	0.000602	0	5	51				
RAP1B	5908	broad.mit.edu	37	12	69044231	69044231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69044231G>C	uc001sub.2	+	3	272	c.109G>C	c.(109-111)GAA>CAA	p.E37Q	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E37Q|RAP1B_uc010stf.1_Missense_Mutation_p.E37Q|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.E37Q	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	37	Effector region (Probable).			E->A: Strong reduction in nucleotide exchange with EPAC2.	blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCCTACGATAGAAGATTCTTA	0.234		NaN											0	0	0	0.00308	0	6	50				
NUP107	57122	broad.mit.edu	37	12	69126474	69126474	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69126474G>T	uc001suf.2	+	23	2171	c.2056G>T	c.(2056-2058)GCA>TCA	p.A686S	NUP107_uc001sug.2_Missense_Mutation_p.A445S|NUP107_uc010stj.1_Missense_Mutation_p.A657S	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	686					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCGCAGAGGGCAGAAGCACT	0.274		NaN											1	0	4.26978e-12	0.00333	4.44117e-12	22	43				
BEST3	144453	broad.mit.edu	37	12	70088210	70088210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:70088210C>G	uc001svg.2	-	3	414	c.187G>C	c.(187-189)GAA>CAA	p.E63Q	BEST3_uc001svd.1_Missense_Mutation_p.E63Q|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	63	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAATTTTTCAAAGTAACGT	0.378		NaN											0	0	0	0.00308	0	8	41				
KCNC2	3747	broad.mit.edu	37	12	75437006	75437006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:75437006C>T	uc001sxg.1	-	5	2340	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q	KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.R544Q	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	599	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GTTTAAGCTTCGGGATTTTTC	0.433		NaN											0	0	0	0.001855	0	12	72				
LRRIQ1	84125	broad.mit.edu	37	12	85547824	85547824	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:85547824T>C	uc001tac.2	+	23	4783	c.4672T>C	c.(4672-4674)TTG>CTG	p.L1558L		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1558										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TCAGCAAATGTTGAAGAGGGC	0.289		NaN											0	0	0	0.008291	0	9	28				
DUSP6	1848	broad.mit.edu	37	12	89743278	89743278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:89743278G>A	uc001tay.2	-	3	1379	c.899C>T	c.(898-900)TCA>TTA	p.S300L	DUSP6_uc001taz.2_Missense_Mutation_p.S154L	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	300	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						CACAGTGACTGAGCGGCTAAT	0.458		NaN											0	0	0	0.003755	0	35	99				
ATP2B1	490	broad.mit.edu	37	12	90005096	90005096	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:90005096G>C	uc001tbh.2	-	12	2302	c.2121C>G	c.(2119-2121)GTC>GTG	p.V707V	ATP2B1_uc001tbg.2_Silent_p.V707V|ATP2B1_uc001tbf.2_Silent_p.V377V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	707	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TATCACCAGTGACCATCCGCA	0.358		NaN											0	0	0	0.01441	0	67	410				
TMCC3	57458	broad.mit.edu	37	12	94965382	94965382	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:94965382G>A	uc001tdj.2	-	4	1381	c.1263C>T	c.(1261-1263)TTC>TTT	p.F421F	TMCC3_uc001tdi.2_Silent_p.F390F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	421	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2						TGACAGTCATGAAGGCCAGGA	0.532		NaN											0	0	0	0.008361	0	29	75				
C12orf48	55010	broad.mit.edu	37	12	102559617	102559617	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:102559617C>T	uc001tjf.2	+	6	889	c.777C>T	c.(775-777)TTC>TTT	p.F259F	C12orf48_uc001tjg.2_Silent_p.F178F|C12orf48_uc010swa.1_Silent_p.F336F|C12orf48_uc001tjh.2_Silent_p.F178F|C12orf48_uc010swb.1_Silent_p.F145F|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Silent_p.F259F|C12orf48_uc009zud.2_Silent_p.F259F	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	259					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TTATTAATTTCATTGACAAAT	0.303		NaN											0	0	0	0.012319	0	23	166				
SLC41A2	84102	broad.mit.edu	37	12	105282830	105282830	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105282830G>A	uc001tla.2	-	4	1028	c.861C>T	c.(859-861)TTC>TTT	p.F287F		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	287	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GAGATGCAATGAAGGCAGTTG	0.353		NaN											0	0	0	0.01441	0	59	154				
KIAA1033	23325	broad.mit.edu	37	12	105558049	105558049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105558049G>A	uc001tld.2	+	31	3405	c.3318G>A	c.(3316-3318)ATG>ATA	p.M1106I	KIAA1033_uc010swr.1_Missense_Mutation_p.M1107I|KIAA1033_uc010sws.1_Missense_Mutation_p.M918I	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	1106					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TACAAACCATGAATCTCACTC	0.408		NaN											0	0	0	0.001855	0	14	52				
NAA25	80018	broad.mit.edu	37	12	112477111	112477111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112477111G>T	uc001ttm.2	-	22	2591	c.2571C>A	c.(2569-2571)TAC>TAA	p.Y857*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Y829*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Y835*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	857						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CACTCTCACAGTAACTGGATA	0.328		NaN											1	0	1.52319e-26	0.00874	1.61096e-26	40	101				
C12orf51	283450	broad.mit.edu	37	12	112608964	112608964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112608964G>A	uc009zwc.2	-	61	10641	c.10623C>T	c.(10621-10623)CCC>CCT	p.P3541P		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GGGTATACATGGGTGTCTGGC	0.632		NaN											0	0	0	0.001168	0	5	17				
C12orf52	84934	broad.mit.edu	37	12	113629482	113629482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:113629482C>G	uc001tur.1	+	4	1138	c.670C>G	c.(670-672)CAG>GAG	p.Q224E	C12orf52_uc009zwg.1_Missense_Mutation_p.Q221E|C12orf52_uc001tus.1_Missense_Mutation_p.Q224E|C12orf52_uc001tut.1_Missense_Mutation_p.Q248E	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	224	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						AAATGGGCCTCAGGATCTCAG	0.617		NaN											0	0	0	0.008291	0	10	55				
MED13L	23389	broad.mit.edu	37	12	116549237	116549237	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:116549237C>G	uc001tvw.2	-	3	446	c.391G>C	c.(391-393)GAA>CAA	p.E131Q		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	131					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTACCTTTCTAACAGATTG	0.383		NaN											0	0	0	0.001855	0	13	114				
CIT	11113	broad.mit.edu	37	12	120221778	120221778	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:120221778C>T	uc001txi.1	-	12	1532	c.1479G>A	c.(1477-1479)CTG>CTA	p.L493L	CIT_uc001txh.1_Silent_p.L27L|CIT_uc001txj.1_Silent_p.L493L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	493	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGAGGCCTTCAGCTCCACCT	0.542		NaN											0	0	0	0.01441	0	62	273				
HIP1R	9026	broad.mit.edu	37	12	123342655	123342655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:123342655C>G	uc001udj.1	+	19	1881	c.1822C>G	c.(1822-1824)CAG>GAG	p.Q608E	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	608					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGGAGTCTCAGGAGCAGGG	0.652		NaN											0	0	0	0.00499	0	11	91				
CHFR	55743	broad.mit.edu	37	12	133428210	133428210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:133428210G>A	uc001ulf.2	-	12	1606	c.1522C>T	c.(1522-1524)CAG>TAG	p.Q508*	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.Q496*|CHFR_uc010tbs.1_Nonsense_Mutation_p.Q507*|CHFR_uc001uld.2_Nonsense_Mutation_p.Q467*|CHFR_uc010tbt.1_Nonsense_Mutation_p.Q416*	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	508					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCACACTGCTGAGGGGCGACA	0.657		NaN											0	0	0	0.01441	0	54	163				
PSPC1	55269	broad.mit.edu	37	13	20283725	20283725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:20283725C>T	uc001uml.2	-	7	1359	c.1173G>A	c.(1171-1173)ATG>ATA	p.M391I	PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CACCCATTCTCATTTCCTGTT	0.373		NaN											0	0	0	0.01441	0	50	115				
SACS	26278	broad.mit.edu	37	13	23904719	23904719	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904719G>C	uc001uon.2	-	10	13885	c.13296C>G	c.(13294-13296)TTC>TTG	p.F4432L	SACS_uc001uoo.2_Missense_Mutation_p.F4285L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4432					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAGGAACAAAGAACCTTTGAG	0.478		NaN											0	0	0	0.007835	0	42	112				
SACS	26278	broad.mit.edu	37	13	23904867	23904867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904867G>C	uc001uon.2	-	10	13737	c.13148C>G	c.(13147-13149)TCA>TGA	p.S4383*	SACS_uc001uoo.2_Nonsense_Mutation_p.S4236*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4383	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCGGGATGCTGAGGTTGAAAA	0.378		NaN											0	0	0	0.009718	0	45	135				
SACS	26278	broad.mit.edu	37	13	23905173	23905173	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23905173G>C	uc001uon.2	-	10	13431	c.12842C>G	c.(12841-12843)TCT>TGT	p.S4281C	SACS_uc001uoo.2_Missense_Mutation_p.S4134C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4281					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTCTACCAGAGAAAAGAGG	0.478		NaN											0	0	0	0.007291	0	29	84				
USP12	219333	broad.mit.edu	37	13	27645266	27645266	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:27645266T>C	uc001uqy.2	-	8	1206	c.953A>G	c.(952-954)TAT>TGT	p.Y318C		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	318					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATTGCAATATAATGGCCTCG	0.274		NaN											0	0	0	0.001855	0	12	68				
CCNA1	8900	broad.mit.edu	37	13	37011849	37011849	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:37011849C>T	uc001uvr.3	+	3	731	c.381C>T	c.(379-381)GTC>GTT	p.V127V	CCNA1_uc010teo.1_Silent_p.V83V|CCNA1_uc010abq.2_Silent_p.V83V|CCNA1_uc010abp.2_Silent_p.V83V|CCNA1_uc001uvs.3_Silent_p.V126V|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	127					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACTGTGGGGTCCAAGAGCCCC	0.498		NaN											0	0	0	0.009535	0	32	74				
CCDC70	83446	broad.mit.edu	37	13	52439716	52439716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:52439716G>C	uc001vfu.3	+	2	498	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	68						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTTCAGGGAAGAGATGTGGAC	0.468		NaN											0	0	0	0.013537	0	12	89				
TMTC4	84899	broad.mit.edu	37	13	101278119	101278119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:101278119C>G	uc001vou.2	-	13	1717	c.1557G>C	c.(1555-1557)ATG>ATC	p.M519I	TMTC4_uc001vot.2_Missense_Mutation_p.M538I|TMTC4_uc010tja.1_Missense_Mutation_p.M408I|TMTC4_uc001vov.1_Missense_Mutation_p.M264I|TMTC4_uc001vow.1_Missense_Mutation_p.M302I	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 3.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAAGATTATTCATGGCATGAA	0.343		NaN											0	0	0	0.006122	0	16	56				
COL4A2	1284	broad.mit.edu	37	13	111077333	111077333	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111077333G>A	uc001vqx.2	+	6	638	c.349G>A	c.(349-351)GAT>AAT	p.D117N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	117					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTGGTGCCGATGGAATTCC	0.433		NaN											0	0	0	0.00308	0	7	72				
C13orf16	121793	broad.mit.edu	37	13	111973258	111973258	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111973258G>A	uc001vsa.2	+	2	150	c.21G>A	c.(19-21)GTG>GTA	p.V7V		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	7	Extracellular (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTGGAAGTGAAGAACTCTC	0.652		NaN											0	0	0	0.012319	0	18	45				
OR4K5	79317	broad.mit.edu	37	14	20389242	20389242	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:20389242G>T	uc010tkw.1	+	1	477	c.477G>T	c.(475-477)CAG>CAT	p.Q159H		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTAAGCCAGTTATCATTTA	0.448		NaN											1	0	3.54119e-60	0.01441	3.77242e-60	142	767				
RPGRIP1	57096	broad.mit.edu	37	14	21780010	21780010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780010G>A	uc001wag.2	+	8	958	c.958G>A	c.(958-960)GAG>AAG	p.E320K		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	320	Potential.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAGCCCATGAGGCCCTCCT	0.512		NaN											0	0	0	0.000602	0	5	11				
RPGRIP1	57096	broad.mit.edu	37	14	21780081	21780081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780081G>C	uc001wag.2	+	8	1029	c.1029G>C	c.(1027-1029)TTG>TTC	p.L343F		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	343	Potential.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGTGAGCTTGAAGAGCCAAC	0.453		NaN											0	0	0	0.008291	0	11	11				
FBXO33	254170	broad.mit.edu	37	14	39868857	39868857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:39868857G>A	uc001wvk.2	-	4	1869	c.1531C>T	c.(1531-1533)CAT>TAT	p.H511Y		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	511											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATAAGGTTATGCACTGGATCT	0.488		NaN											0	0	0	0.008291	0	9	26				
FAM179B	23116	broad.mit.edu	37	14	45433564	45433564	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45433564G>A	uc001wvv.2	+	1	2149	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	FAM179B_uc001wvw.2_Missense_Mutation_p.R647Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R647Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R647Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	647							binding			skin(2)|upper_aerodigestive_tract(1)	3						ATCTGTACCCGAAGGGTATTA	0.443		NaN											0	0	0	0.003163	0	16	44				
FAM179B	23116	broad.mit.edu	37	14	45542646	45542646	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45542646C>G	uc001wvv.2	+	19	5254	c.5045C>G	c.(5044-5046)TCA>TGA	p.S1682*	FAM179B_uc001wvw.2_Nonsense_Mutation_p.S1735*|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1682							binding			skin(2)|upper_aerodigestive_tract(1)	3						GCTAAATTATCAAAAGCACTC	0.403		NaN											0	0	0	0.012319	0	19	58				
TMX1	81542	broad.mit.edu	37	14	51707163	51707163	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:51707163G>C	uc001wza.3	+	1	277	c.152_splice	c.e1+1	p.F51_splice	TMX1_uc010tqr.1_Splice_Site_p.F51_splice|TMX1_uc010aoa.2_Splice_Site	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor						anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						TGATAGAATTGTGAGTGCGGG	0.647		NaN											0	0	0	0.004672	0	3	15				
ZFP36L1	677	broad.mit.edu	37	14	69256711	69256711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:69256711C>T	uc001xkh.1	-	2	686	c.556G>A	c.(556-558)GCC>ACC	p.A186T	ZFP36L1_uc001xki.1_Missense_Mutation_p.A186T	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	186					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGCCCCGGCCAGGGCACGG	0.572		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	32		Valid		
YLPM1	56252	broad.mit.edu	37	14	75231008	75231008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:75231008G>A	uc001xqj.3	+	1	940	c.816G>A	c.(814-816)AAG>AAA	p.K272K		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAAAAACAAGAGTACTGAAC	0.532		NaN											0	0	0	0.001168	0	5	11				
C14orf174	161394	broad.mit.edu	37	14	77846794	77846794	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:77846794G>T	uc001xtq.1	+	2	1758	c.1758G>T	c.(1756-1758)CAG>CAT	p.Q586H		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	586	SAM.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ACCTCCCTCAGATGGGGATAA	0.423		NaN											1	0	1.61879e-10	0.013537	1.67783e-10	12	28				
PTPN21	11099	broad.mit.edu	37	14	88946469	88946469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:88946469G>A	uc001xwv.3	-	13	1637	c.1306C>T	c.(1306-1308)CGG>TGG	p.R436W	PTPN21_uc010twc.1_Missense_Mutation_p.R232W	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	436						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GCGCTGTGCCGATGGGACGGG	0.607		NaN											0	0	0	0.006214	0	9	30				
TDP1	55775	broad.mit.edu	37	14	90429474	90429474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:90429474G>A	uc001xxy.2	+	3	315	c.16G>A	c.(16-18)GAT>AAT	p.D6N	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.D6N|TDP1_uc010atn.2_Missense_Mutation_p.D6N|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.D6N|TDP1_uc001xyc.1_Missense_Mutation_p.D6N	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	6					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCAGGAAGGCGATTATGGGAG	0.433		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.010504	0	19	69				
CATSPERB	79820	broad.mit.edu	37	14	92139220	92139220	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:92139220G>T	uc001xzs.1	-	13	1259	c.1119C>A	c.(1117-1119)TTC>TTA	p.F373L	CATSPERB_uc010aub.1_5'Flank	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	373					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCTTGTTATAGAAGAGGTAAA	0.353		NaN											1	0	5.82218e-30	0.01441	6.17249e-30	57	192				
PAPOLA	10914	broad.mit.edu	37	14	97003330	97003330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:97003330G>A	uc001yfq.2	+	12	1258	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	PAPOLA_uc001yfr.2_Missense_Mutation_p.E350K|PAPOLA_uc010twv.1_Missense_Mutation_p.E350K|PAPOLA_uc010avp.2_Missense_Mutation_p.E100K	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	350					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TATCACAGATGAAATTTTGCT	0.318		NaN											0	0	0	0.010729	0	11	43				
DYNC1H1	1778	broad.mit.edu	37	14	102514870	102514870	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:102514870C>T	uc001yks.2	+	74	13400	c.13236C>T	c.(13234-13236)TTC>TTT	p.F4412F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4412					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGTTCAGGTTCTTTGAGAGAG	0.483		NaN											0	0	0	0.006214	0	9	37				
KLC1	3831	broad.mit.edu	37	14	104121150	104121150	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:104121150G>A	uc001yno.2	+	2	557	c.249G>A	c.(247-249)CTG>CTA	p.L83L	KLC1_uc010tyd.1_Silent_p.L242L|KLC1_uc010tye.1_Silent_p.L79L|KLC1_uc001ynm.1_Silent_p.L83L|KLC1_uc001ynn.1_Silent_p.L79L|KLC1_uc010tyf.1_Silent_p.L83L	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	83					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGCTCGGCCTGAGTGAGGCAC	0.418		NaN											0	0	0	0.004482	0	9	53				
BUB1B	701	broad.mit.edu	37	15	40501871	40501871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40501871C>T	uc001zkx.3	+	17	2391	c.2179C>T	c.(2179-2181)CGC>TGC	p.R727C		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCACAGTATCGCAGACAGCT	0.418		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.005443	0	25	145				
C15orf52	388115	broad.mit.edu	37	15	40633137	40633137	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40633137C>T	uc001zlh.3	-	1	32	c.16G>A	c.(16-18)GAG>AAG	p.E6K	C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	6										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTCGCTGCTCAGCACACGAG	0.647		NaN											0	0	0	0.009096	0	3	14				
MAPKBP1	23005	broad.mit.edu	37	15	42107900	42107900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42107900G>A	uc001zok.3	+	13	1700	c.1414G>A	c.(1414-1416)GAT>AAT	p.D472N	MAPKBP1_uc001zoj.3_Missense_Mutation_p.D466N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D466N|MAPKBP1_uc010udb.1_Missense_Mutation_p.D305N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	472										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACAAAGCTGATGCATCCCT	0.547		NaN											0	0	0	0.001984	0	7	26				
EHD4	30844	broad.mit.edu	37	15	42193072	42193072	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42193072G>C	uc001zot.2	-	6	1460	c.1397C>G	c.(1396-1398)TCA>TGA	p.S466*		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	466	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GTTGACACCTGATATCTTGCC	0.597		NaN											0	0	0	0.010729	0	10	51				
CDAN1	146059	broad.mit.edu	37	15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:43022925C>T	uc001zql.2	-	14	2162	c.2045G>A	c.(2044-2046)CGA>CAA	p.R682Q	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.E8K	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	682						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGCCCTCGCTGCAGCAG	0.637		NaN											0	0	0	0.00308	0	7	15				
GATM	2628	broad.mit.edu	37	15	45654374	45654374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:45654374C>T	uc001zvc.2	-	9	1534	c.1205G>A	c.(1204-1206)GGA>GAA	p.G402E	GATM_uc001zvb.2_Missense_Mutation_p.G273E	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	402					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GAAGCCTCCTCCCAGGGAATT	0.498		NaN											0	0	0	0.00308	0	7	53				
SLC27A2	11001	broad.mit.edu	37	15	50518226	50518226	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:50518226A>T	uc001zxw.2	+	6	1441	c.1209A>T	c.(1207-1209)AAA>AAT	p.K403N	SLC27A2_uc010bes.2_Missense_Mutation_p.K350N|SLC27A2_uc001zxx.2_Missense_Mutation_p.K168N	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	403	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTGGAGAAAGATGAACCTG	0.318		NaN											0	0	0	0.007835	0	41	104				
MYO5C	55930	broad.mit.edu	37	15	52553307	52553307	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:52553307C>T	uc010bff.2	-	10	1202	c.1065G>A	c.(1063-1065)CTG>CTA	p.L355L	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.*255*	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	355	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		AGAACACCTTCAGGTGACTGT	0.572		NaN											0	0	0	0.00333	0	22	54				
RNF111	54778	broad.mit.edu	37	15	59344515	59344515	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:59344515G>A	uc002afv.2	+	3	1171	c.892G>A	c.(892-894)GAA>AAA	p.E298K	RNF111_uc002afs.2_Missense_Mutation_p.E298K|RNF111_uc002aft.2_Missense_Mutation_p.E298K|RNF111_uc002afu.2_Missense_Mutation_p.E298K|RNF111_uc002afw.2_Missense_Mutation_p.E298K	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	298	Ser-rich.|Interaction with AXIN1.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		AAGTATTGATGAAGATGTTGT	0.373		NaN											0	0	0	0.004656	0	28	149				
HERC1	8925	broad.mit.edu	37	15	63984612	63984612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:63984612G>A	uc002amp.2	-	31	5976	c.5828C>T	c.(5827-5829)TCA>TTA	p.S1943L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1943					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ACATGTACCTGAAGAACATTT	0.358		NaN											0	0	0	0.007413	0	18	88				
RASL12	51285	broad.mit.edu	37	15	65347506	65347506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:65347506C>T	uc002aoi.1	-	5	747	c.532G>A	c.(532-534)GAG>AAG	p.E178K	RASL12_uc002aoj.1_Missense_Mutation_p.E159K|RASL12_uc010uir.1_Missense_Mutation_p.E167K	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	178					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						CGCACTGCCTCGTGGAAGACA	0.647		NaN											0	0	0	0.004482	0	7	29				
FEM1B	10116	broad.mit.edu	37	15	68582398	68582398	+	Silent	SNP	C	C	T	rs142803256		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68582398C>T	uc002arg.2	+	2	1317	c.702C>T	c.(700-702)GTC>GTT	p.V234V	FEM1B_uc002arh.2_Silent_p.V154V	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	234	ANK 6.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						AAGCTGATGTCGTAGAACTGT	0.458		NaN											0	0	0	0.003755	0	36	466				
ITGA11	22801	broad.mit.edu	37	15	68600001	68600001	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68600001A>G	uc002ari.2	-	27	3295	c.3208T>C	c.(3208-3210)TGC>CGC	p.C1070R	ITGA11_uc010bib.2_Missense_Mutation_p.C1071R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1070	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CGTATATTGCAGTTGATGGAG	0.542		NaN											0	0	0	0.01441	0	62	22				
THAP10	56906	broad.mit.edu	37	15	71174897	71174897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:71174897C>T	uc002asv.2	-	3	812	c.670G>A	c.(670-672)GAC>AAC	p.D224N	LRRC49_uc002asu.2_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	224							DNA binding|metal ion binding			ovary(1)|skin(1)	2						GAGTAAATGTCAAAGAGAGAG	0.393		NaN											0	0	0	0.013726	0	34	187				
PML	5371	broad.mit.edu	37	15	74336969	74336969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:74336969C>T	uc002awv.2	+	9	2409	c.2269C>T	c.(2269-2271)CTC>TTC	p.L757F	PML_uc002awu.2_Missense_Mutation_p.L709F|PML_uc010ule.1_Missense_Mutation_p.L318F	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	757					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GTGCCGCCTCCTCGAGGTCTC	0.652		NaN	T	RARA|PAX5	APL|ALL								0	0	0	0.000602	0	4	23				
FANCI	55215	broad.mit.edu	37	15	89834895	89834895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:89834895G>C	uc010bnp.1	+	20	2032	c.1942G>C	c.(1942-1944)GAA>CAA	p.E648Q	FANCI_uc002bnm.1_Missense_Mutation_p.E648Q|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E469Q|FANCI_uc002bnq.1_Missense_Mutation_p.E61Q	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	648					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTGAAATTAGAAGCTTGTAT	0.353		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00874	0	38	161				
C15orf42	90381	broad.mit.edu	37	15	90161397	90161397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90161397G>C	uc002boe.2	+	17	2975	c.2975G>C	c.(2974-2976)GGT>GCT	p.G992A		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	992					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTGATCCTGGTCCTGATATT	0.413		NaN											0	0	0	0.01441	0	157	269				
AP3S2	10239	broad.mit.edu	37	15	90431850	90431850	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90431850G>A	uc002boq.3	-	3	612	c.176C>T	c.(175-177)TCT>TTT	p.S59F	AP3S2_uc002bos.3_Missense_Mutation_p.S260F|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_Intron	NM_005829	NP_005820	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2	59					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTTGTAGTCAGAGCCACCAAT	0.418		NaN											0	0	0	0.009096	0	3	35				
CHD2	1106	broad.mit.edu	37	15	93558043	93558043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558043C>T	uc002bsp.2	+	37	5385	c.4810C>T	c.(4810-4812)CAG>TAG	p.Q1604*	CHD2_uc002bso.1_Nonsense_Mutation_p.Q1604*	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1604					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTCACCCTCAGAAGCCTCA	0.532		NaN											0	0	0	0.00333	0	22	170				
CHD2	1106	broad.mit.edu	37	15	93558052	93558052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558052C>T	uc002bsp.2	+	37	5394	c.4819C>T	c.(4819-4821)CAT>TAT	p.H1607Y	CHD2_uc002bso.1_Missense_Mutation_p.H1607Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1607					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGAAGCCTCATTTGCCTGC	0.517		NaN											0	0	0	0.005443	0	25	174				
AXIN1	8312	broad.mit.edu	37	16	339566	339566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:339566G>A	uc002cgp.1	-	10	2513	c.2336C>T	c.(2335-2337)CCG>CTG	p.P779L	AXIN1_uc002cgq.1_Missense_Mutation_p.P743L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	779	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637		NaN											0	0	0	0.001168	0	6	34				
MAPK8IP3	23162	broad.mit.edu	37	16	1797074	1797074	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:1797074C>T	uc002cmk.2	+	6	909	c.789C>T	c.(787-789)GCC>GCT	p.A263A	MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A263A|MAPK8IP3_uc010uvl.1_Silent_p.A264A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	263					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCTCGGCGGCCGCCACACCCA	0.667		NaN											0	0	0	0.000602	0	3	21				
OR2C1	4993	broad.mit.edu	37	16	3406140	3406140	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3406140C>G	uc002cuw.1	+	1	252	c.200C>G	c.(199-201)TCC>TGC	p.S67C		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCAACCTCTCCTCCTTGGAC	0.522		NaN											0	0	0	0.006999	0	37	161				
CREBBP	1387	broad.mit.edu	37	16	3807965	3807965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3807965G>A	uc002cvv.2	-	18	3658	c.3454C>T	c.(3454-3456)CAG>TAG	p.Q1152*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q1114*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1152	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCACGTACTGCCAGGGCTCT	0.458		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.004007	0	16	65		Valid		
ITPRIPL2	162073	broad.mit.edu	37	16	19126049	19126049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:19126049C>T	uc002dfu.3	+	1	796	c.266C>T	c.(265-267)TCG>TTG	p.S89L	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	89	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GCCTTCTCCTCGAGACACTTC	0.662		NaN											0	0	0	0.001168	0	5	14				
TAOK2	9344	broad.mit.edu	37	16	29998037	29998037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:29998037G>A	uc002dva.1	+	16	3227	c.2444G>A	c.(2443-2445)AGG>AAG	p.R815K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R822K|TAOK2_uc002dvd.1_Missense_Mutation_p.R642K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	815	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AAGCAGCAGAGGATTCTGGGG	0.552		NaN											0	0	0	0.008291	0	10	76				
ZNF689	115509	broad.mit.edu	37	16	30620909	30620909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30620909C>T	uc002dyx.2	-	2	576	c.256G>A	c.(256-258)GAT>AAT	p.D86N	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TCCCAGTCATCGGTGTTTCGT	0.567		NaN											0	0	0	0.008291	0	9	53				
SRCAP	10847	broad.mit.edu	37	16	30735080	30735080	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30735080C>T	uc002dze.1	+	25	4720	c.4335C>T	c.(4333-4335)ACC>ACT	p.T1445T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T1240T|SRCAP_uc010bzz.1_Silent_p.T1015T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1445	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTGTCCCCACCACACTTCCTG	0.567		NaN											0	0	0	0.009535	0	32	118				
ABCC12	94160	broad.mit.edu	37	16	48177901	48177901	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:48177901C>T	uc002efc.1	-	2	541	c.195G>A	c.(193-195)GTG>GTA	p.V65V	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.V65V|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	65						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GGTAGCCTTTCACCATCACCG	0.552		NaN											0	0	0	0.010729	0	12	163				
ADCY7	113	broad.mit.edu	37	16	50339495	50339495	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339495G>A	uc002egd.1	+	12	1945	c.1677G>A	c.(1675-1677)ACG>ACA	p.T559T	ADCY7_uc002egc.1_Silent_p.T559T	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	559	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCAGCTCCACGAGGTGAGGTC	0.612		NaN											0	0	0	0.01441	0	53	88				
ADCY7	113	broad.mit.edu	37	16	50339739	50339739	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339739G>A	uc002egd.1	+	13	1999	c.1731G>A	c.(1729-1731)CTG>CTA	p.L577L	ADCY7_uc002egc.1_Silent_p.L577L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	577	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCATCTTCCTGGAGAAGGGCT	0.672		NaN											0	0	0	0.010818	0	30	44				
BRD7	29117	broad.mit.edu	37	16	50383964	50383964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50383964G>A	uc002egf.1	-	6	628	c.561C>T	c.(559-561)AAC>AAT	p.N187N	BRD7_uc002ege.1_Silent_p.N187N	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	187	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				GATAGTCATTGTTCTTGATCT	0.343		NaN											0	0	0	0.01441	0	86	121				
PRSS54	221191	broad.mit.edu	37	16	58314274	58314274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:58314274C>T	uc002enf.2	-	7	1437	c.1042G>A	c.(1042-1044)GAG>AAG	p.E348K	PRSS54_uc002eng.2_Missense_Mutation_p.E348K|PRSS54_uc010vie.1_Missense_Mutation_p.E249K|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	348					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACAGACGCCTCAGGAGACCTG	0.478		NaN											0	0	0	0.012319	0	22	63				
RRAD	6236	broad.mit.edu	37	16	66957559	66957559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66957559G>A	uc002eqn.2	-	4	661	c.509C>T	c.(508-510)TCA>TTA	p.S170L	RRAD_uc002eqo.2_Missense_Mutation_p.S170L	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	170					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GTCCGTCACTGAGTACACAAT	0.607		NaN											0	0	0	0.00278	0	22	69				
CES2	8824	broad.mit.edu	37	16	66976646	66976646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66976646G>A	uc002eqr.2	+	10	2570	c.1570G>A	c.(1570-1572)GAG>AAG	p.E524K	CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Missense_Mutation_p.E367K	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	460					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCATGGTGATGAGCTTCCTTT	0.552		NaN											0	0	0	0.010729	0	11	51				
RLTPR	146206	broad.mit.edu	37	16	67683380	67683380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67683380C>T	uc002etn.2	+	20	1897	c.1777C>T	c.(1777-1779)CGG>TGG	p.R593W	RLTPR_uc010cel.1_Missense_Mutation_p.R586W|RLTPR_uc010vjr.1_Missense_Mutation_p.R557W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	593	Tropomodulin-like.|LRR 13.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCTGAGTCTCGGCTGAAGCT	0.632		NaN											0	0	0	0.00308	0	6	26				
TSNAXIP1	55815	broad.mit.edu	37	16	67859121	67859121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67859121G>A	uc002euj.2	+	7	992	c.598G>A	c.(598-600)GAC>AAC	p.D200N	TSNAXIP1_uc010cep.2_Missense_Mutation_p.D64N|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.D77N|TSNAXIP1_uc002euf.3_5'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.D254N|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.D185N|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_5'UTR|TSNAXIP1_uc002euk.2_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	200					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCTCATCGCAGACCTGAATGA	0.542		NaN											0	0	0	0.00245	0	15	45				
SLC12A4	6560	broad.mit.edu	37	16	67985184	67985184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67985184C>T	uc002euz.2	-	9	1297	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	SLC12A4_uc010ceu.2_Missense_Mutation_p.E380K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E355K|SLC12A4_uc010vki.1_Missense_Mutation_p.E386K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E388K|SLC12A4_uc002eva.2_Missense_Mutation_p.E386K|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	386	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCCTTCTCCAGGTAGGCG	0.632		NaN											0	0	0	0.014323	0	22	76				
HP	3240	broad.mit.edu	37	16	72094456	72094456	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72094456G>A	uc002fbr.3	+	7	932	c.888G>A	c.(886-888)CTG>CTA	p.L296L	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.L237L|HP_uc002fbt.3_Silent_p.L237L|HP_uc002fbu.1_Silent_p.L34L|HP_uc002fbv.3_Silent_p.L207L|HP_uc002fbw.3_Silent_p.L118L|HP_uc002fbx.3_Silent_p.L118L|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	296	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCATCTGAAGTATGTCA	0.493		NaN											0	0	0	0.00245	0	15	36				
HPR	3250	broad.mit.edu	37	16	72108235	72108235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72108235G>C	uc002fby.2	+	3	174	c.144G>C	c.(142-144)TTG>TTC	p.L48F	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	48	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				TGGAGCACTTGTTTCGCTACC	0.493		NaN											0	0	0	0.013537	0	13	63				
ADAMTS18	170692	broad.mit.edu	37	16	77325188	77325188	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:77325188C>A	uc002ffc.3	-	21	3796	c.3377G>T	c.(3376-3378)GGA>GTA	p.G1126V		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1126	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGAATACCATCCAGCTACCAT	0.502		NaN											1	0	0.00198382	0.001984	0.0020089	5	77				
ATP2C2	9914	broad.mit.edu	37	16	84473071	84473071	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:84473071C>T	uc002fhx.2	+	13	1239	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L	ATP2C2_uc010chj.2_Silent_p.L384L|ATP2C2_uc002fhy.2_Silent_p.L401L|ATP2C2_uc002fhz.2_Silent_p.L233L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	384	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						GACGGGGACTCTGACTGCCAA	0.502		NaN											0	0	0	0.01441	0	52	205				
ZCCHC14	23174	broad.mit.edu	37	16	87445991	87445991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87445991G>C	uc002fjz.1	-	12	1952	c.1925C>G	c.(1924-1926)TCG>TGG	p.S642W	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S418W	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	642					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AACAGATGACGACAGCAGCAG	0.592		NaN											0	0	0	0.005443	0	29	109				
ZCCHC14	23174	broad.mit.edu	37	16	87446150	87446150	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87446150G>C	uc002fjz.1	-	12	1793	c.1766C>G	c.(1765-1767)TCC>TGC	p.S589C	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S365C	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	589					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGACCAAAGGAGACTGTGGG	0.657		NaN											0	0	0	0.00308	0	8	46				
MYO1C	4641	broad.mit.edu	37	17	1371362	1371362	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1371362T>C	uc002fsp.2	-	28	3036	c.2816A>G	c.(2815-2817)CAG>CGG	p.Q939R	MYO1C_uc002fsn.2_Missense_Mutation_p.Q920R|MYO1C_uc002fso.2_Missense_Mutation_p.Q904R|MYO1C_uc010vqj.1_Missense_Mutation_p.Q904R	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	939					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGCAGCAGCTGCCGGGAGCG	0.627		NaN											0	0	0	0.008291	0	7	39				
PRPF8	10594	broad.mit.edu	37	17	1576684	1576684	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576684G>T	uc002fte.2	-	23	3738	c.3624C>A	c.(3622-3624)ACC>ACA	p.T1208T		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1208						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGTCCTTGTGGGTGAACTCCT	0.587		NaN											1	0	2.0095e-06	0.001984	2.05857e-06	7	36				
PRPF8	10594	broad.mit.edu	37	17	1576731	1576731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576731C>T	uc002fte.2	-	23	3691	c.3577G>A	c.(3577-3579)GAG>AAG	p.E1193K		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1193						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCGGCACTCGAAGCCACAC	0.577		NaN											0	0	0	0.008871	0	19	61				
KIAA0664	23277	broad.mit.edu	37	17	2597243	2597243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:2597243C>T	uc002fuy.1	-	19	3151	c.3065G>A	c.(3064-3066)TGC>TAC	p.C1022Y	KIAA0664_uc002fux.1_Missense_Mutation_p.C955Y|KIAA0664_uc010ckc.1_Missense_Mutation_p.C8Y	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1022	TPR 2.						binding			breast(2)	2						GAGGCGCAGGCAGGCGCAGGT	0.627		NaN											0	0	0	0.001984	0	6	10				
ATP2A3	489	broad.mit.edu	37	17	3856676	3856676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:3856676C>T	uc002fxb.1	-	3	335	c.184G>A	c.(184-186)GTG>ATG	p.V62M	ATP2A3_uc002fwx.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwy.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwz.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxa.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxc.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxd.1_Missense_Mutation_p.V62M	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	62	Helical; Name=1; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGATGCGCACCAGGAGGTCC	0.647		NaN											0	0	0	0.00308	0	7	61				
ANKFY1	51479	broad.mit.edu	37	17	4086695	4086695	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4086695G>A	uc002fxq.1	-	14	1988	c.1950C>T	c.(1948-1950)GTC>GTT	p.V650V	ANKFY1_uc002fxn.2_Silent_p.V692V|ANKFY1_uc002fxo.2_Silent_p.V650V|ANKFY1_uc002fxp.2_Silent_p.V649V|ANKFY1_uc010ckp.2_Silent_p.V591V	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	650	ANK 9.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CCTCCTACCTGACATTTATAT	0.488		NaN											0	0	0	0.00333	0	22	89				
GGT6	124975	broad.mit.edu	37	17	4462916	4462916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4462916G>A	uc002fyd.3	-	2	340	c.280C>T	c.(280-282)CCA>TCA	p.P94S	GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Missense_Mutation_p.P94S|GGT6_uc010vsc.1_Missense_Mutation_p.P94S	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	94	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						CCGCCGGGTGGAGGGGCCACA	0.677		NaN											0	0	0	0.008291	0	11	16				
ZNF594	84622	broad.mit.edu	37	17	5086687	5086687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5086687G>A	uc010cla.1	-	2	1021	c.865C>T	c.(865-867)CAC>TAC	p.H289Y		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	289	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCTCCAGTGTGAATTCTCTGA	0.433		NaN											0	0	0	0.012319	0	21	154				
NLRP1	22861	broad.mit.edu	37	17	5462822	5462822	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5462822G>A	uc002gci.2	-	4	1749	c.1194C>T	c.(1192-1194)ATC>ATT	p.I398I	NLRP1_uc002gcg.1_Silent_p.I398I|NLRP1_uc002gck.2_Silent_p.I398I|NLRP1_uc002gcj.2_Silent_p.I398I|NLRP1_uc002gcl.2_Silent_p.I398I|NLRP1_uc002gch.3_Silent_p.I398I|NLRP1_uc010clh.2_Silent_p.I398I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	398	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCCTAGACAGGATCTGTCTAA	0.577		NaN											0	0	0	0.004482	0	6	38				
SLC13A5	284111	broad.mit.edu	37	17	6610016	6610016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6610016G>C	uc002gdj.2	-	3	401	c.313C>G	c.(313-315)CTG>GTG	p.L105V	SLC13A5_uc010vtf.1_Missense_Mutation_p.L105V|SLC13A5_uc010clq.2_Missense_Mutation_p.L62V|SLC13A5_uc002gdk.2_Missense_Mutation_p.L105V|SLC13A5_uc002gdl.1_5'Flank	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	105						integral to membrane	citrate transmembrane transporter activity				0						CTCTTGTGCAGGTTCCAGCGC	0.627		NaN											0	0	0	0.009096	0	3	26				
BCL6B	255877	broad.mit.edu	37	17	6930283	6930283	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6930283G>C	uc002geg.2	+	8	1257	c.1200G>C	c.(1198-1200)CGG>CGC	p.R400R	BCL6B_uc010clt.1_Silent_p.R401R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	400	C2H2-type 3.					nucleus	zinc ion binding			skin(1)	1						CACATCTGCGGGCGCACGTGC	0.632		NaN											0	0	0	0.008291	0	11	56				
C17orf81	23587	broad.mit.edu	37	17	7160258	7160258	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7160258C>T	uc002gfg.1	+	6	647	c.540C>T	c.(538-540)CTC>CTT	p.L180L	C17orf81_uc002gfj.2_Silent_p.L180L|C17orf81_uc010cmb.2_Silent_p.L180L|C17orf81_uc002gfh.1_Silent_p.L180L|C17orf81_uc002gfi.1_Silent_p.L180L|C17orf81_uc002gfl.1_Silent_p.L180L	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						TGGGAGCTCTCAGCAGCCTTG	0.617		NaN											0	0	0	0.00245	0	13	29				
GPS2	2874	broad.mit.edu	37	17	7217447	7217447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7217447G>A	uc002gfv.1	-	4	612	c.349C>T	c.(349-351)CAG>TAG	p.Q117*	GPS2_uc002gfw.1_Nonsense_Mutation_p.Q79*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q117*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q117*	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	117					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)				AGGCTCTGCTGGTATGCAGCT	0.507		NaN											0	0	0	0.010818	0	31	148				
ACAP1	9744	broad.mit.edu	37	17	7250445	7250445	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7250445C>T	uc002ggd.2	+	14	1433	c.1227C>T	c.(1225-1227)GCC>GCT	p.A409A		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	409	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						ACGTGGTGGCCCAGGTCCAGA	0.667		NaN											0	0	0	0.006214	0	9	48				
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7577556C>A	uc002gim.2	-	7	919	c.725G>T	c.(724-726)TGC>TTC	p.C242F	TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	0.000274275	0.004482	0.000279026	8	39		Valid		
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7578275G>A	uc002gim.2	-	6	768	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	192	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00278	0	23	33		Valid		
EFNB3	1949	broad.mit.edu	37	17	7612706	7612706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7612706G>A	uc002gis.2	+	5	1232	c.835G>A	c.(835-837)GGT>AGT	p.G279S		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	279	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGCCTGGGGGGTGGAGGTGG	0.697		NaN											0	0	0	0.00308	0	8	27				
PIK3R5	23533	broad.mit.edu	37	17	8791859	8791859	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:8791859G>A	uc002glt.2	-	10	1312	c.1245C>T	c.(1243-1245)CGC>CGT	p.R415R	PIK3R5_uc010vuz.1_Silent_p.R415R|PIK3R5_uc002glu.3_Silent_p.R29R|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.R29R	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	415					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCCCAGGCCTGCGGTGGCCTC	0.632		NaN											0	0	0	0.008291	0	10	9				
LRRC48	83450	broad.mit.edu	37	17	17891266	17891266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:17891266G>A	uc010vxd.1	+	6	677	c.298G>A	c.(298-300)GAG>AAG	p.E100K	LRRC48_uc002gsa.2_Missense_Mutation_p.E100K|LRRC48_uc010vxc.1_Missense_Mutation_p.E100K|LRRC48_uc002gsb.2_Missense_Mutation_p.E100K	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	100	LRR 3.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)					CAACAACATTGAGACCATCGA	0.552		NaN											0	0	0	0.006214	0	9	43				
B9D1	27077	broad.mit.edu	37	17	19251136	19251136	+	Missense_Mutation	SNP	C	C	T	rs148240978		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:19251136C>T	uc002gvk.3	-	4	466	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	B9D1_uc010cqm.1_Missense_Mutation_p.E77K|B9D1_uc002gvl.3_Missense_Mutation_p.E77K|B9D1_uc010vyr.1_Missense_Mutation_p.E121K|B9D1_uc010vys.1_Missense_Mutation_p.E152K|B9D1_uc010cqn.1_Missense_Mutation_p.E152K	NM_015681	NP_056496	Q9UPM9	B9D1_HUMAN	B9 protein	101	B9.				cilium assembly	centrosome|microtubule basal body	protein binding				0	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCATAGCCTCGAACCACATC	0.607		NaN											0	0	0	0.004482	0	8	35				
FOXN1	8456	broad.mit.edu	37	17	26856166	26856166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:26856166C>T	uc010crm.2	+	5	952	c.754C>T	c.(754-756)CAG>TAG	p.Q252*	FOXN1_uc002hbj.2_Nonsense_Mutation_p.Q252*	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	252					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					CTCACACTATCAGTACCAGCG	0.567		NaN											0	0	0	0.00245	0	14	90				
NEK8	284086	broad.mit.edu	37	17	27068520	27068520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27068520G>A	uc002hcp.2	+	14	1981	c.1981G>A	c.(1981-1983)GAT>AAT	p.D661N	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	661	RCC1 5.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AGTGCAGTTGGATGAGACACA	0.567		NaN											0	0	0	0.00245	0	15	64				
TIAF1	9220	broad.mit.edu	37	17	27401192	27401192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27401192C>G	uc002hdv.1	-	1	1436	c.26G>C	c.(25-27)AGA>ACA	p.R9T	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	9					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGACTGCTCTCTGAAGGGTGA	0.597		NaN											0	0	0	0.00308	0	7	45				
CORO6	84940	broad.mit.edu	37	17	27946710	27946710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27946710C>T	uc002hel.2	-	2	282	c.280G>A	c.(280-282)GAC>AAC	p.D94N	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	94	WD 1.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						ATAACGTTGTCATTGTGTGGA	0.572		NaN											0	0	0	0.012319	0	23	141				
TBC1D29	26083	broad.mit.edu	37	17	28887196	28887196	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:28887196A>G	uc002hfh.2	+	2	223	c.74A>G	c.(73-75)GAT>GGT	p.D25G	TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	25	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				GTGCTGAATGATGGGGTAAGG	0.627		NaN											0	0	0	0.000602	0	5	11				
CCL15	6359	broad.mit.edu	37	17	34325917	34325917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:34325917G>A	uc010wcu.1	-	2	690	c.121C>T	c.(121-123)CCA>TCA	p.P41S	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	41					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACTACTGGATTTTCCAGT	0.438		NaN											0	0	0	0.011902	0	41	70				
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.01441	0	52	251		Valid		
KRT34	3885	broad.mit.edu	37	17	39538574	39538574	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:39538574C>T	uc002hwm.2	-	1	63	c.51G>A	c.(49-51)CAG>CAA	p.Q17Q		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	17	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TCTCCTTCCTCTGCAGTCCTT	0.458		NaN											0	0	0	0.010504	0	19	84				
ACLY	47	broad.mit.edu	37	17	40070073	40070073	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:40070073G>A	uc002hyg.2	-	2	217	c.54C>T	c.(52-54)TTC>TTT	p.F18F	ACLY_uc002hyh.2_Silent_p.F18F|ACLY_uc002hyi.2_Silent_p.F72F|ACLY_uc010wfx.1_Silent_p.F72F|ACLY_uc010wfy.1_Silent_p.F18F	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	18					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TGGTACAGATGAACTTGTAAA	0.562		NaN											0	0	0	0.004656	0	25	178				
GRN	2896	broad.mit.edu	37	17	42429721	42429721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:42429721G>C	uc002igp.1	+	12	1645	c.1426G>C	c.(1426-1428)GAG>CAG	p.E476Q	GRN_uc002igr.1_Missense_Mutation_p.E270Q	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	476					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTGTGCTGCGAGGATCGCCA	0.637		NaN											0	0	0	0.001168	0	6	28				
PLCD3	113026	broad.mit.edu	37	17	43196285	43196285	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:43196285C>T	uc002iib.2	-	5	924	c.810G>A	c.(808-810)CTG>CTA	p.L270L		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	270	EF-hand 3.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CAGGGGCACTCAGCACGCGGT	0.637		NaN											0	0	0	0.001984	0	7	11				
NFE2L1	4779	broad.mit.edu	37	17	46128694	46128694	+	Missense_Mutation	SNP	A	A	G	rs117666459	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:46128694A>G	uc002imz.3	+	2	865	c.214A>G	c.(214-216)ATA>GTA	p.I72V	NFE2L1_uc002ina.3_Missense_Mutation_p.I72V|NFE2L1_uc002inb.3_Missense_Mutation_p.I72V|NFE2L1_uc002inc.1_Missense_Mutation_p.I72V	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	72					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						CCCCAAGAGCATAGACCTGGA	0.567		NaN											0	0	0	0.003755	0	38	115				
SAMD14	201191	broad.mit.edu	37	17	48191613	48191613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48191613C>T	uc002iqg.2	-	8	1179	c.880G>A	c.(880-882)GGG>AGG	p.G294R	SAMD14_uc002iqd.2_Missense_Mutation_p.G77R|SAMD14_uc002iqe.2_Missense_Mutation_p.G77R|SAMD14_uc002iqf.2_Missense_Mutation_p.G322R	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	294											0						TGCCAGGGCCCACTGGGGATC	0.597		NaN											0	0	0	0.010729	0	10	36				
XYLT2	64132	broad.mit.edu	37	17	48434547	48434547	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48434547G>A	uc002iqo.2	+	9	1984	c.1875G>A	c.(1873-1875)CTG>CTA	p.L625L	XYLT2_uc010dbo.2_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	625	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					AGATGTGGCTGATGCCCCAAG	0.632		NaN											0	0	0	0.001168	0	6	15				
LRRC59	55379	broad.mit.edu	37	17	48460409	48460409	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48460409G>A	uc002iqt.2	-	7	1018	c.864C>T	c.(862-864)GTC>GTT	p.V288V		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	288	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GTAGACCCTGGACCGCATTGT	0.597		NaN											0	0	0	0.001168	0	6	8				
RAD51C	5889	broad.mit.edu	37	17	56809868	56809868	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:56809868C>A	uc002iwu.2	+	8	1031	c.989C>A	c.(988-990)CCC>CAC	p.P330H	RAD51C_uc010woa.1_Missense_Mutation_p.P330H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	330					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACAAGTCACCCAGCCAGAAG	0.328		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				1	0	7.26314e-15	0.007291	7.58155e-15	24	83				
HELZ	9931	broad.mit.edu	37	17	65141898	65141898	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:65141898T>C	uc010wqk.1	-	21	2920	c.2733A>G	c.(2731-2733)GTA>GTG	p.V911V	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.V910V	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTTTTCTTGTACATCTTCTC	0.373		NaN											0	0	0	0.008291	0	11	108				
ABCA6	23460	broad.mit.edu	37	17	67075194	67075194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:67075194C>G	uc002jhw.1	-	39	4949	c.4774G>C	c.(4774-4776)GAA>CAA	p.E1592Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1592					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ACTTCCTGTTCTTTAGAAAGC	0.348		NaN											0	0	0	0.010729	0	12	54				
DNAI2	64446	broad.mit.edu	37	17	72301563	72301563	+	Missense_Mutation	SNP	C	C	T	rs143470009		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72301563C>T	uc002jkf.2	+	9	1292	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	398	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AGCCGGGAATCGTCCATCATG	0.622		NaN							Kartagener_syndrome				0	0	0	0.008291	0	11	17				
GRIN2C	2905	broad.mit.edu	37	17	72842905	72842905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72842905T>C	uc002jlt.1	-	10	2312	c.2156A>G	c.(2155-2157)AAG>AGG	p.K719R	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.K719R	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	719	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCACCCCATCTTGAGGCTGGT	0.617		NaN											0	0	0	0.00278	0	12	26				
OTOP2	92736	broad.mit.edu	37	17	72929508	72929508	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72929508C>T	uc010wrp.1	+	8	1646	c.1557C>T	c.(1555-1557)TTC>TTT	p.F519F	OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	519						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCCTCATTTCAGCAACACAG	0.572		NaN											0	0	0	0.00333	0	20	77				
ICT1	3396	broad.mit.edu	37	17	73017052	73017052	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73017052G>A	uc002jmm.2	+	6	575	c.573G>A	c.(571-573)AAG>AAA	p.K191K		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	191					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					TGAGACAAAAGAGAATTCATT	0.498		NaN											0	0	0	0.008361	0	30	64				
UNC13D	201294	broad.mit.edu	37	17	73839336	73839336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73839336G>C	uc002jpp.2	-	3	545	c.165C>G	c.(163-165)CTC>CTG	p.L55L	UNC13D_uc010wsk.1_Silent_p.L55L|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	55					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCTCGTAGAGCAGGGCCC	0.642		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.001168	0	5	22				
UBE2O	63893	broad.mit.edu	37	17	74387282	74387282	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:74387282G>A	uc002jrm.3	-	18	3686	c.3621C>T	c.(3619-3621)GGC>GGT	p.G1207G	UBE2O_uc002jrl.3_Silent_p.G811G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1207							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTGAGGCCAGGCCCTGGGCAC	0.632		NaN											0	0	0	0.00245	0	13	96				
EPB41L3	23136	broad.mit.edu	37	18	5397338	5397338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:5397338C>T	uc002kmt.1	-	18	2646	c.2560G>A	c.(2560-2562)GAG>AAG	p.E854K	EPB41L3_uc010wzh.1_Missense_Mutation_p.E685K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E632K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E523K|EPB41L3_uc002kms.1_Missense_Mutation_p.E89K|EPB41L3_uc010wze.1_Missense_Mutation_p.E159K|EPB41L3_uc010wzf.1_Missense_Mutation_p.E151K|EPB41L3_uc010wzg.1_Missense_Mutation_p.E126K|EPB41L3_uc010dkr.2_Missense_Mutation_p.E246K	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	854	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AACACGGTCTCCTGCACCACC	0.602		NaN											0	0	0	0.00308	0	8	40				
KATNAL2	83473	broad.mit.edu	37	18	44626625	44626625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:44626625G>A	uc002lco.2	+	14	1353	c.1159G>A	c.(1159-1161)GAG>AAG	p.E387K	KATNAL2_uc002lcp.3_Missense_Mutation_p.E314K	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	459						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GCTGTTTCAGGAGACTGAGGG	0.507		NaN									OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	23	35				
MYO5B	4645	broad.mit.edu	37	18	47428979	47428980	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:47428979_47428980CC>AA	uc002leb.2	-	21	3083_3084	c.2795_2796GG>TT	c.(2794-2796)CGG>CTT	p.R932L	MYO5B_uc002lea.2_Missense_Mutation_p.R73L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	932	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CATCGATCTTCCGCTGCAGCTG	0.594		NaN											0	0	0	0.004672	0	27	53				
DCC	1630	broad.mit.edu	37	18	50977029	50977029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:50977029G>C	uc002lfe.1	+	23	3976	c.3389G>C	c.(3388-3390)AGA>ACA	p.R1130T	DCC_uc010dpf.1_Missense_Mutation_p.R765T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1130	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCAGCAGAGAAAGTAGGTA	0.473		NaN											0	0	0	0.001168	0	5	32				
MBD2	8932	broad.mit.edu	37	18	51731413	51731413	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:51731413C>T	uc002lfg.1	-	2	886	c.657G>A	c.(655-657)CAG>CAA	p.Q219Q	MBD2_uc002lfh.1_Silent_p.Q219Q	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	219					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GTTTGTTCTTCTGTAATTTAC	0.388		NaN											0	0	0	0.01441	0	74	148				
CD226	10666	broad.mit.edu	37	18	67562996	67562996	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67562996T>C	uc010dqo.2	-	3	1115	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	CD226_uc002lkm.3_Missense_Mutation_p.Y223C	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	223	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				GGCCTGCAAGTAGCAGCGGTA	0.522		NaN											0	0	0	0.00333	0	24	141				
RTTN	25914	broad.mit.edu	37	18	67871418	67871418	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67871418G>C	uc002lkp.2	-	3	369	c.301C>G	c.(301-303)CTG>GTG	p.L101V	RTTN_uc010xfb.1_Translation_Start_Site|RTTN_uc002lkq.1_Missense_Mutation_p.L101V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	101							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TCAGCCTGCAGATTTGGCTCC	0.433		NaN											0	0	0	0.007413	0	19	134				
CTDP1	9150	broad.mit.edu	37	18	77474710	77474710	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:77474710A>C	uc002lnh.1	+	8	1397	c.1250A>C	c.(1249-1251)CAA>CCA	p.Q417P	CTDP1_uc002lni.1_Missense_Mutation_p.Q417P|CTDP1_uc010drd.1_Missense_Mutation_p.Q417P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	417					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACCAGCAGCCAAGAGCTGGCA	0.746		NaN											0	0	0	0.001984	0	7	4				
ZNF555	148254	broad.mit.edu	37	19	2853251	2853251	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2853251T>A	uc002lwo.2	+	4	1277	c.1188T>A	c.(1186-1188)TAT>TAA	p.Y396*	ZNF555_uc002lwn.3_Nonsense_Mutation_p.Y395*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	396	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACCCTATGAATGCAACC	0.498		NaN											0	0	0	0.006214	0	10	64				
TLE6	79816	broad.mit.edu	37	19	2987903	2987903	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2987903G>A	uc002lwu.2	+	9	664	c.264G>A	c.(262-264)AGG>AGA	p.R88R	TLE6_uc002lwt.2_Silent_p.R211R|TLE6_uc010dtg.2_Silent_p.R211R|TLE6_uc002lwv.2_5'UTR	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	88					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCCCCCAGGCCACCTGAGG	0.667		NaN											0	0	0	0.00245	0	13	18				
GNA15	2769	broad.mit.edu	37	19	3157790	3157790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3157790C>T	uc002lxf.2	+	6	1067	c.809C>T	c.(808-810)ACA>ATA	p.T270I		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	270					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TTCAAAAGCACATCCGTCATC	0.507		NaN											0	0	0	0.004289	0	36	213				
C19orf28	126321	broad.mit.edu	37	19	3551099	3551099	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3551099T>C	uc002lxz.2	-	2	562	c.392A>G	c.(391-393)TAC>TGC	p.Y131C	C19orf28_uc002lxw.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxx.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxy.2_Missense_Mutation_p.Y122C	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	131	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGGGCCGTAGTAGAGGAG	0.637		NaN											0	0	0	0.001168	0	5	22				
EEF2	1938	broad.mit.edu	37	19	3984133	3984133	+	Splice_Site	SNP	C	C	G	rs113603517		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3984133C>G	uc002lze.2	-	2	301	c.218_splice	c.e2+1	p.T73_splice	SNORD37_uc002lzf.1_5'Flank	NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2							cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGAGCTCACGTTGACTTGA	0.657		NaN											0	0	0	0.006122	0	17	39				
ACSBG2	81616	broad.mit.edu	37	19	6177390	6177390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:6177390C>T	uc002mef.1	+	8	1116	c.889C>T	c.(889-891)CAA>TAA	p.Q297*	ACSBG2_uc002mee.1_Nonsense_Mutation_p.Q110*|ACSBG2_uc002meg.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.Q247*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.Q297*	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	297					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						ATACTTTGCTCAAGCAGATGC	0.507		NaN											0	0	0	0.007413	0	20	34				
ZNF557	79230	broad.mit.edu	37	19	7083113	7083113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7083113C>T	uc002mgb.2	+	8	1115	c.630C>T	c.(628-630)TTC>TTT	p.F210F	ZNF557_uc002mga.2_Silent_p.F217F|ZNF557_uc002mgc.2_Silent_p.F217F	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	210	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		GGAAAACCTTCAGCAGCAGAT	0.438		NaN											0	0	0	0.008361	0	32	52				
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7684884C>T	uc002mgx.2	-	17	2370	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CGCTCCGCCTCAGCCGCCAGC	0.667		NaN						Direct_reversal_of_damage|NER					0	0	0	0.000602	0	4	16				
FBN3	84467	broad.mit.edu	37	19	8136970	8136970	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:8136970G>T	uc002mjf.2	-	62	8071	c.8050C>A	c.(8050-8052)CGG>AGG	p.R2684R	FBN3_uc002mje.2_Silent_p.R480R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2684						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGCCGGTCCCGAGGGGAGAGG	0.647		NaN											1	0	2.2871e-25	0.007835	2.41309e-25	37	142				
MUC16	94025	broad.mit.edu	37	19	9071731	9071731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9071731C>T	uc002mkp.2	-	3	15919	c.15715G>A	c.(15715-15717)GAT>AAT	p.D5239N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5241	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGACTTATCATGGTCTGGG	0.478		NaN											0	0	0	0.009535	0	29	156				
MUC16	94025	broad.mit.edu	37	19	9077704	9077704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9077704G>A	uc002mkp.2	-	3	9946	c.9742C>T	c.(9742-9744)CAG>TAG	p.Q3248*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3249	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGTGGACTGAAGGGTGACT	0.517		NaN											0	0	0	0.00333	0	23	166				
KEAP1	9817	broad.mit.edu	37	19	10610637	10610637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10610637C>T	uc002moq.1	-	2	229	c.73G>A	c.(73-75)GAG>AAG	p.E25K	KEAP1_uc002mor.1_Missense_Mutation_p.E25K	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCTGCCCCCTCAGGGCACTGT	0.652		NaN											0	0	0	0.007413	0	19	73				
ZNF700	90592	broad.mit.edu	37	19	12060204	12060204	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:12060204C>T	uc002msu.2	+	4	1491	c.1365C>T	c.(1363-1365)TTC>TTT	p.F455F	ZNF700_uc010xme.1_Silent_p.F473F|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	455	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAAAGCCTTCAGATCTACCT	0.488		NaN											0	0	0	0.012319	0	23	94				
BRD4	23476	broad.mit.edu	37	19	15367816	15367816	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:15367816C>T	uc002nar.2	-	8	1732	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K	BRD4_uc002nas.2_Missense_Mutation_p.E504K|BRD4_uc002nat.3_Missense_Mutation_p.E504K|BRD4_uc002nau.3_Missense_Mutation_p.E504K	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	504					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGCTCCTCCTCAGAGTCATCA	0.647		NaN	T	NUT|C15orf55	lethal midline carcinoma of young people								0	0	0	0.009096	0	3	3				
CHERP	10523	broad.mit.edu	37	19	16633881	16633881	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16633881C>T	uc002nei.1	-	11	2036	c.1962G>A	c.(1960-1962)CTG>CTA	p.L654L	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L193L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	654	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GGGGGGCCATCAGCCCAGCAG	0.617		NaN											0	0	0	0.013537	0	13	64				
CHERP	10523	broad.mit.edu	37	19	16634026	16634026	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16634026C>G	uc002nei.1	-	11	1891	c.1817G>C	c.(1816-1818)GGA>GCA	p.G606A	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.G145A	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	606	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GTGCTGGGGTCCAGCCCAAGG	0.662		NaN											0	0	0	0.004007	0	14	82				
CHERP	10523	broad.mit.edu	37	19	16640540	16640540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16640540C>T	uc002nei.1	-	8	1122	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	350					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GCCTTGACTTCAGCCTCCATC	0.562		NaN											0	0	0	0.00308	0	6	4				
MYO9B	4650	broad.mit.edu	37	19	17213295	17213295	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17213295C>G	uc010eak.2	+	2	920	c.768C>G	c.(766-768)CTC>CTG	p.L256L	MYO9B_uc002nfi.2_Silent_p.L256L|MYO9B_uc002nfj.1_Silent_p.L256L	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	256	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						TCCACTGCCTCACCGCCCTCA	0.642		NaN											0	0	0	0.004482	0	8	20				
ABHD8	79575	broad.mit.edu	37	19	17405304	17405304	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17405304G>A	uc002ngb.3	-	4	1182	c.942C>T	c.(940-942)TTC>TTT	p.F314F		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	314							hydrolase activity				0						CTTGGCGGGCGAAGCCGGCCC	0.647		NaN											0	0	0	0.001855	0	12	94				
ANO8	57719	broad.mit.edu	37	19	17440786	17440786	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17440786G>A	uc002ngf.2	-	11	1470	c.1311C>T	c.(1309-1311)CTC>CTT	p.L437L	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	437	Extracellular (Potential).|Leu-rich.					chloride channel complex	chloride channel activity			ovary(3)	3						CTTTGATGATGAGGTGCTTCT	0.622		NaN											0	0	0	0.003163	0	15	88				
PDE4C	5143	broad.mit.edu	37	19	18321950	18321950	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18321950G>C	uc010xqc.1	-	15	2408	c.1928C>G	c.(1927-1929)TCA>TGA	p.S643*	PDE4C_uc002nik.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nil.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nif.3_Nonsense_Mutation_p.S412*|PDE4C_uc002nig.3_Nonsense_Mutation_p.S358*|PDE4C_uc002nih.3_Nonsense_Mutation_p.S413*|PDE4C_uc010ebk.2_Nonsense_Mutation_p.S537*|PDE4C_uc002nii.3_Nonsense_Mutation_p.S611*|PDE4C_uc010ebl.2_Nonsense_Mutation_p.S357*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	643					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	GGTGAGGTCTGAGGGACTTCG	0.468		NaN											0	0	0	0.001855	0	12	127				
UPF1	5976	broad.mit.edu	37	19	18963840	18963840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18963840G>A	uc002nkg.2	+	7	1292	c.1017G>A	c.(1015-1017)AAG>AAA	p.K339K	UPF1_uc002nkf.2_Silent_p.K339K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	339	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCCTTAACAAGAAGAGAATCG	0.453		NaN											0	0	0	0.01441	0	54	101				
SFRS14	10147	broad.mit.edu	37	19	19135806	19135806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19135806C>G	uc002nkx.2	-	3	1497	c.1351G>C	c.(1351-1353)GAG>CAG	p.E451Q	SFRS14_uc002nkz.1_Missense_Mutation_p.E465Q|SFRS14_uc002nla.1_Missense_Mutation_p.E451Q|SFRS14_uc002nlb.2_Missense_Mutation_p.E451Q|SFRS14_uc010xqk.1_Missense_Mutation_p.E220Q	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	451					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			ACACTTAGCTCGTAGGCATTG	0.473		NaN											0	0	0	0.007835	0	42	253				
SF4	57794	broad.mit.edu	37	19	19431303	19431303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19431303C>T	uc002nmh.2	-	1	5	c.3G>A	c.(1-3)ATG>ATA	p.M1I	SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA|KIAA0892_uc002nmk.3_5'Flank	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	1					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TCTTGAGACTCATCCAATCCC	0.612		NaN											0	0	0	0.005443	0	29	84				
GATAD2A	54815	broad.mit.edu	37	19	19612021	19612021	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19612021G>A	uc010xqt.1	+	9	1608	c.1296G>A	c.(1294-1296)AAG>AAA	p.K432K	GATAD2A_uc010xqu.1_Silent_p.K61K|GATAD2A_uc010xqv.1_Silent_p.K452K|GATAD2A_uc010xqw.1_Silent_p.K260K	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	432	GATA-type.				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGGAGGAGAAGAGCGGCGCCA	0.622		NaN											0	0	0	0.00308	0	7	44				
ZNF737	100129842	broad.mit.edu	37	19	20728335	20728335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:20728335C>G	uc002npa.2	-	4	854	c.674G>C	c.(673-675)GGA>GCA	p.G225A		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	225					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CCGTTTCTCTCCAGTATGAAT	0.403		NaN											0	0	0	0.004672	0	3	56				
KIAA0355	9710	broad.mit.edu	37	19	34818939	34818939	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:34818939G>A	uc002nvd.3	+	6	1846	c.987G>A	c.(985-987)CAG>CAA	p.Q329Q		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	329										ovary(1)	1	Esophageal squamous(110;0.162)					GGCGGAGGCAGACACCCCCGC	0.617		NaN											0	0	0	0.009718	0	42	107				
LSR	51599	broad.mit.edu	37	19	35758034	35758034	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:35758034C>G	uc002nyl.2	+	9	1534	c.1311C>G	c.(1309-1311)CTC>CTG	p.L437L	LSR_uc002nym.2_Silent_p.L418L|LSR_uc002nyn.2_Silent_p.L369L|LSR_uc002nyo.2_Silent_p.L417L|LSR_uc010xsr.1_Silent_p.L329L|LSR_uc002nyp.2_Silent_p.L379L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	437	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCACCTCCCTCCACGAGGACG	0.682		NaN											0	0	0	0.001984	0	6	33				
WDR62	284403	broad.mit.edu	37	19	36591653	36591653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36591653G>A	uc002odc.2	+	23	2834	c.2743G>A	c.(2743-2745)GAG>AAG	p.E915K	WDR62_uc002odd.2_Missense_Mutation_p.E915K	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	915					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCATAGTCAGAGAGTCCCCA	0.627		NaN											0	0	0	0.010504	0	17	103				
ZFP82	284406	broad.mit.edu	37	19	36884578	36884578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36884578C>T	uc002ody.1	-	5	899	c.664G>A	c.(664-666)GGT>AGT	p.G222S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						AGTTTTTCACCAGAATGAAGT	0.413		NaN											0	0	0	0.007291	0	29	118				
ZNF829	374899	broad.mit.edu	37	19	37382767	37382767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37382767G>C	uc002ofa.1	-	6	1288	c.926C>G	c.(925-927)TCA>TGA	p.S309*	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	309	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGCCTTGAGTGTTGAGT	0.383		NaN											0	0	0	0.00499	0	18	216				
ZNF527	84503	broad.mit.edu	37	19	37880276	37880276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37880276T>A	uc010efk.1	+	5	1436	c.1325T>A	c.(1324-1326)TTC>TAC	p.F442Y	ZNF527_uc002ogf.3_Missense_Mutation_p.F410Y|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	442	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTTCAAATGTAGT	0.428		NaN											0	0	0	0.001984	0	7	249				
ZNF607	84775	broad.mit.edu	37	19	38190458	38190458	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:38190458G>T	uc002ohc.1	-	5	1170	c.574C>A	c.(574-576)CAT>AAT	p.H192N	ZNF607_uc002ohb.1_Missense_Mutation_p.H191N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	192	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCTCAACATGAACTTTCCCA	0.393		NaN											1	0	4.10826e-27	0.01441	4.35021e-27	51	646				
FCGBP	8857	broad.mit.edu	37	19	40408603	40408603	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40408603G>C	uc002omp.3	-	8	4244	c.4236C>G	c.(4234-4236)GCC>GCG	p.A1412A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1412	VWFD 3.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAACTCATTGGCGTTGCCTG	0.632		NaN											0	0	0	0.00499	0	16	44				
PSMC4	5704	broad.mit.edu	37	19	40480725	40480725	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40480725T>C	uc002omq.2	+	6	700	c.663T>C	c.(661-663)CAT>CAC	p.H221H	PSMC4_uc002omr.2_Silent_p.H190H	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGGTGGCACATCACACAACAG	0.597		NaN											0	0	0	0.006214	0	8	29				
BCKDHA	593	broad.mit.edu	37	19	41884361	41884361	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:41884361C>T	uc002oqm.3	+	2	498	c.147C>T	c.(145-147)TTC>TTT	p.F49F	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Silent_p.F49F|TMEM91_uc010ehq.2_Silent_p.F49F|TMEM91_uc002oql.2_Silent_p.F49F|TMEM91_uc010ehr.2_Silent_p.F49F|TMEM91_uc010ehs.2_Silent_p.F49F|TMEM91_uc010eht.2_Silent_p.F49F|TMEM91_uc002oqk.3_Silent_p.F49F|TMEM91_uc002oqn.2_Silent_p.F49F	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GTTTGCAGTTCCTGTCACCGC	0.617		NaN											0	0	0	0.008871	0	19	41				
CEACAM5	1048	broad.mit.edu	37	19	42213827	42213827	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42213827G>T	uc002ork.2	+	2	414	c.293G>T	c.(292-294)CGA>CTA	p.R98L	CEACAM5_uc010ehz.1_Missense_Mutation_p.R98L|CEACAM5_uc002orj.1_Missense_Mutation_p.R98L|CEACAM5_uc002orl.2_Missense_Mutation_p.R98L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	98	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACAGTGGTCGAGAGATAATA	0.448		NaN											1	0	3.21399e-22	0.004878	3.38295e-22	39	229				
GSK3A	2931	broad.mit.edu	37	19	42744116	42744116	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42744116C>G	uc002otb.1	-	2	581	c.462G>C	c.(460-462)AAG>AAC	p.K154N	GSK3A_uc002ota.1_Missense_Mutation_p.K72N|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	154	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				CCTTGAACCTCTTGTCCTGGA	0.567		NaN											0	0	0	0.000602	0	5	33				
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45873455T>C	uc002pbj.2	-	2	88	c.41A>G	c.(40-42)TAC>TGC	p.Y14C	ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	14	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001168	0	4	27		Valid		
PPP1R13L	10848	broad.mit.edu	37	19	45899596	45899596	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45899596G>A	uc002pbn.2	-	5	888	c.811C>T	c.(811-813)CGC>TGC	p.R271C	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R271C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R271C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	271	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCACTCACGTTCATAGCTC	0.652		NaN											0	0	0	0.004007	0	15	41				
FAM83E	54854	broad.mit.edu	37	19	49116416	49116416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49116416C>T	uc002pjn.2	-	1	279	c.214G>A	c.(214-216)GAA>AAA	p.E72K		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	72										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCAGTCTTCAGCTGCCGCT	0.672		NaN											0	0	0	0.006122	0	15	8				
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49377076G>A	uc002pky.3	+	2	855	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532		NaN											0	0	0	0.00623	0	40	56				
GYS1	2997	broad.mit.edu	37	19	49481249	49481249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49481249G>A	uc002plp.2	-	10	1481	c.1240C>T	c.(1240-1242)CCC>TCC	p.P414S	GYS1_uc010xzy.1_Missense_Mutation_p.P47S|GYS1_uc010emm.2_Missense_Mutation_p.P350S|GYS1_uc010xzz.1_Missense_Mutation_p.P334S|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTCATGTCGGGAAGGCTCCCA	0.542		NaN											0	0	0	0.01441	0	66	89				
HRC	3270	broad.mit.edu	37	19	49658329	49658329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49658329C>T	uc002pmv.2	-	1	353	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	56					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCGAAGCTCTGCTGATGCC	0.597		NaN											0	0	0	0.01441	0	58	121				
ZNF320	162967	broad.mit.edu	37	19	53383882	53383882	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53383882G>A	uc002qag.2	-	4	1688	c.1497C>T	c.(1495-1497)TGC>TGT	p.C499C	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.C445C|ZNF320_uc002qai.2_Silent_p.C499C	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TATACTCATTGCACTTGAAAC	0.368		NaN											0	0	0	0.004656	0	22	140				
ZNF816A	125893	broad.mit.edu	37	19	53454109	53454109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53454109G>A	uc002qal.1	-	5	1220	c.919C>T	c.(919-921)CAT>TAT	p.H307Y	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H291Y	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	307	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TCTCCAGTATGAAGTCTACGA	0.428		NaN											0	0	0	0.01441	0	152	185				
ZNF160	90338	broad.mit.edu	37	19	53573363	53573363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53573363C>G	uc010eqk.2	-	7	840	c.424G>C	c.(424-426)GAG>CAG	p.E142Q	ZNF160_uc002qaq.3_Missense_Mutation_p.E142Q|ZNF160_uc002qar.3_Missense_Mutation_p.E142Q	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	142					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		CATTGACACTCAAAATCATGC	0.423		NaN											0	0	0	0.01441	0	125	154				
RPS9	6203	broad.mit.edu	37	19	54705081	54705081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:54705081G>C	uc002qdx.2	+	2	85	c.29G>C	c.(28-30)CGC>CCC	p.R10P	RPS9_uc002qdy.2_Missense_Mutation_p.R10P|RPS9_uc002qdz.2_Missense_Mutation_p.R10P|RPS9_uc002qea.2_Missense_Mutation_p.R10P|RPS9_uc002qeb.2_Missense_Mutation_p.R10P|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Missense_Mutation_p.R10P	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	10					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGGGTTTGTCGCAAAACTTAT	0.617		NaN											0	0	0	0.00278	0	22	48				
TNNI3	7137	broad.mit.edu	37	19	55667621	55667621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:55667621C>T	uc002qjg.3	-	5	230	c.230G>A	c.(229-231)AGC>AAC	p.S77N	TNNI3_uc010yft.1_Missense_Mutation_p.S69N	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	77	Involved in binding TNC.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCAGCGGGTGCTCAGAGCGCG	0.657		NaN											0	0	0	0.000602	0	4	16				
ZNF460	10794	broad.mit.edu	37	19	57802811	57802811	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:57802811G>C	uc002qog.2	+	3	1224	c.902G>C	c.(901-903)AGC>ACC	p.S301T	ZNF460_uc010ygv.1_Missense_Mutation_p.S260T	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	301	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAAGAGCCACAATGAG	0.473		NaN											0	0	0	0.014323	0	22	141				
ZSCAN1	284312	broad.mit.edu	37	19	58565117	58565117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:58565117G>A	uc002qrc.1	+	6	1172	c.925G>A	c.(925-927)GAG>AAG	p.E309K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	309	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCACTTCATCGAGCACCAGAA	0.627		NaN											0	0	0	0.003954	0	25	39				
SLC27A5	10998	broad.mit.edu	37	19	59011983	59011983	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:59011983G>A	uc002qtc.2	-	5	1383	c.1273C>T	c.(1273-1275)CCT>TCT	p.P425S	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	425	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCCGAATAGGACCGAAGCGC	0.587		NaN											0	0	0	0.004289	0	35	48				
GREB1	9687	broad.mit.edu	37	2	11765299	11765299	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11765299C>T	uc002rbk.1	+	24	4467	c.4167C>T	c.(4165-4167)GAC>GAT	p.D1389D	GREB1_uc002rbp.1_Silent_p.D387D	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1389						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGAATCTGACTGGCATTATC	0.378		NaN											0	0	0	0.00623	0	41	263				
GREB1	9687	broad.mit.edu	37	2	11774306	11774306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11774306C>T	uc002rbk.1	+	29	5341	c.5041C>T	c.(5041-5043)CAC>TAC	p.H1681Y	GREB1_uc002rbp.1_Missense_Mutation_p.H679Y	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1681						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATCATGCAGCACATCGAGGC	0.622		NaN											0	0	0	0.006122	0	17	111				
RAD51AP2	729475	broad.mit.edu	37	2	17699508	17699508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17699508C>T	uc002rcl.1	-	1	199	c.175G>A	c.(175-177)GAG>AAG	p.E59K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E50K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	59										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTCCGCCTCAGACAAGCGA	0.547		NaN											0	0	0	0.006999	0	40	124				
VSNL1	7447	broad.mit.edu	37	2	17773477	17773477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17773477G>C	uc002rcm.2	+	2	520	c.136G>C	c.(136-138)GAG>CAG	p.E46Q		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	46	EF-hand 1.						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAATCTCGAGGAATTTCA	0.428		NaN											0	0	0	0.012213	0	30	209				
PUM2	23369	broad.mit.edu	37	2	20451400	20451400	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:20451400C>T	uc002rds.1	-	20	3164	c.3141G>A	c.(3139-3141)TTG>TTA	p.L1047L	PUM2_uc002rdq.1_Silent_p.L426L|PUM2_uc002rdt.1_Silent_p.L1047L|PUM2_uc002rdr.2_Silent_p.L907L|PUM2_uc010yjy.1_Silent_p.L968L|PUM2_uc002rdu.1_Silent_p.L1047L|PUM2_uc010yjz.1_Silent_p.L986L	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	1049					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTATTCTTCAAATAATACT	0.378		NaN											0	0	0	0.01441	0	84	219				
KIF3C	3797	broad.mit.edu	37	2	26204414	26204414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:26204414C>T	uc002rgu.2	-	1	1030	c.373G>A	c.(373-375)GAG>AAG	p.E125K	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E125K	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	125	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGTGCTCAAAGGCATTC	0.592		NaN											0	0	0	0.006122	0	19	114				
GTF3C2	2976	broad.mit.edu	37	2	27566319	27566319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27566319C>T	uc002rjv.1	-	3	466	c.103G>A	c.(103-105)GAT>AAT	p.D35N	GTF3C2_uc002rju.1_Missense_Mutation_p.D46N|GTF3C2_uc002rjw.1_Missense_Mutation_p.D35N|GTF3C2_uc010eyz.1_Missense_Mutation_p.D35N	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	35						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGACATCAAGCTGATTT	0.547		NaN											0	0	0	0.01441	0	82	199				
PPM1G	5496	broad.mit.edu	37	2	27609992	27609992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27609992C>T	uc002rkl.2	-	3	261	c.154G>A	c.(154-156)GAG>AAG	p.E52K	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	52					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATGGCTGTCTCACTGTCCAGC	0.448		NaN											0	0	0	0.005524	0	31	56				
XDH	7498	broad.mit.edu	37	2	31572632	31572632	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:31572632G>A	uc002rnv.1	-	26	2968	c.2889C>T	c.(2887-2889)TTC>TTT	p.F963F		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	963					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGGCAAGGTGAAACCCTCAA	0.498		NaN											0	0	0	0.01441	0	52	202				
SPAST	6683	broad.mit.edu	37	2	32289086	32289086	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32289086G>C	uc002roc.2	+	1	407	c.186G>C	c.(184-186)GCG>GCC	p.A62A	SPAST_uc002rod.2_Silent_p.A62A	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	62	Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGGCTTCGCGCTGCTGCGTT	0.502		NaN											0	0	0	0.00308	0	7	15				
SLC30A6	55676	broad.mit.edu	37	2	32419049	32419049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32419049G>A	uc002roe.1	+	8	530	c.493G>A	c.(493-495)GAA>AAA	p.E165K	SLC30A6_uc002rof.1_Missense_Mutation_p.E205K|SLC30A6_uc010ymw.1_Missense_Mutation_p.E136K|SLC30A6_uc010ezr.1_Missense_Mutation_p.E165K|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.E91K|SLC30A6_uc002roh.1_5'UTR	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	165	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTATGTCTCAGAAGGTATGTT	0.313		NaN											0	0	0	0.004656	0	27	187				
BIRC6	57448	broad.mit.edu	37	2	32740283	32740283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32740283G>A	uc010ezu.2	+	55	10929	c.10795G>A	c.(10795-10797)GCA>ACA	p.A3599T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3599					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTCTAAAAATGCACAAGCACC	0.408		NaN											0	0	0	0.013537	0	12	104				
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:33745672C>A	uc002rox.2	+	7	916	c.289C>A	c.(289-291)CGT>AGT	p.R97S	RASGRP3_uc010ync.1_Missense_Mutation_p.R97S|RASGRP3_uc002roy.2_Missense_Mutation_p.R97S	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	97	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423		NaN											1	0	5.10652e-33	0.01441	5.4203e-33	65	333				
GALM	130589	broad.mit.edu	37	2	38893363	38893363	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:38893363G>A	uc002rqy.2	+	1	312	c.60G>A	c.(58-60)GAG>GAA	p.E20E		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	20					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				GGACAGTGGAGAAGTTCCAGC	0.597		NaN											0	0	0	0.003163	0	16	45				
DHX57	90957	broad.mit.edu	37	2	39042771	39042771	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:39042771G>A	uc002rrf.2	-	20	3597	c.3498C>T	c.(3496-3498)TTC>TTT	p.F1166F	DHX57_uc002rrd.3_Silent_p.F550F|DHX57_uc002rre.2_Silent_p.F599F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1166							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ACAGTTCCGTGAATTGTCGTT	0.443		NaN											0	0	0	0.01441	0	46	116				
THADA	63892	broad.mit.edu	37	2	43458299	43458299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:43458299G>A	uc002rsw.3	-	38	6002	c.5650C>T	c.(5650-5652)CAG>TAG	p.Q1884*	THADA_uc010far.2_Nonsense_Mutation_p.Q1079*|THADA_uc002rsx.3_Nonsense_Mutation_p.Q1884*|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1884							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGAAGAACTGAGACAGGAGG	0.532		NaN											0	0	0	0.013537	0	12	28				
TTC7A	57217	broad.mit.edu	37	2	47249004	47249004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:47249004G>A	uc002rvo.2	+	12	1764	c.1396G>A	c.(1396-1398)GAG>AAG	p.E466K	TTC7A_uc002rvm.2_Missense_Mutation_p.E432K|TTC7A_uc002rvn.1_Missense_Mutation_p.E347K|TTC7A_uc010fbb.2_Missense_Mutation_p.E466K|TTC7A_uc010fbc.2_Missense_Mutation_p.E112K|TTC7A_uc002rvp.2_Missense_Mutation_p.E347K|TTC7A_uc002rvq.2_Missense_Mutation_p.E206K|TTC7A_uc002rvr.2_Intron	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	466							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTGCAGCTAGAGGAAGCAGA	0.562		NaN											0	0	0	0.004878	0	38	99				
XPO1	7514	broad.mit.edu	37	2	61710158	61710158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:61710158G>C	uc002sbj.2	-	22	3474	c.2746C>G	c.(2746-2748)CAA>GAA	p.Q916E	XPO1_uc010fcl.2_Missense_Mutation_p.Q912E|XPO1_uc010ypn.1_Missense_Mutation_p.Q912E|XPO1_uc002sbk.2_Missense_Mutation_p.Q477E|XPO1_uc002sbg.2_Missense_Mutation_p.Q113E|XPO1_uc002sbh.2_Missense_Mutation_p.Q563E	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	916	HEAT 8.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAATAAGTTTGATAAAAACTC	0.333		NaN											0	0	0	0.005524	0	39	97				
PELI1	57162	broad.mit.edu	37	2	64335432	64335432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:64335432C>T	uc002scs.3	-	1	4052	c.13G>A	c.(13-15)GAT>AAT	p.D5N	PELI1_uc002sct.3_Missense_Mutation_p.D5N|PELI1_uc002scu.1_5'Flank	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	5					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						TTTTCTTGATCAGGAGAAAAC	0.383		NaN											0	0	0	0.01441	0	72	177				
NAGK	55577	broad.mit.edu	37	2	71298938	71298938	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:71298938C>T	uc002shp.3	+	4	742	c.336C>T	c.(334-336)ATC>ATT	p.I112I	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_Silent_p.I61I	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	112					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	CCGGCTCCATCGCCACAGCTA	0.547		NaN											0	0	0	0.009096	0	3	42				
CCDC142	84865	broad.mit.edu	37	2	74708006	74708006	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:74708006G>A	uc002slr.2	-	5	1786	c.1393C>T	c.(1393-1395)CTG>TTG	p.L465L	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L458L|CCDC142_uc002slp.2_Silent_p.L465L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	465										central_nervous_system(1)	1						TCATGCAACAGAGGCTTTGGG	0.572		NaN											0	0	0	0.00623	0	39	100				
LRRTM1	347730	broad.mit.edu	37	2	80529640	80529640	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:80529640G>A	uc002sok.1	-	2	1575	c.1305C>T	c.(1303-1305)CTC>CTT	p.L435L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	435	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AGGAGAAGATGAGGGCCATGG	0.622		NaN								HNSCC(69;0.2)			0	0	0	0.010504	0	20	45				
C2orf89	129293	broad.mit.edu	37	2	85097505	85097505	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85097505C>T	uc010ysl.1	-	2	602	c.513G>A	c.(511-513)ATG>ATA	p.M171I	C2orf89_uc002sou.3_Missense_Mutation_p.M171I|C2orf89_uc010fgc.1_Missense_Mutation_p.M171I	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	171	Extracellular (Potential).					integral to membrane				ovary(1)	1						GGGAGTTGACCATGAGCATCA	0.582		NaN											0	0	0	0.01441	0	54	135				
GGCX	2677	broad.mit.edu	37	2	85777223	85777223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85777223C>T	uc002sps.2	-	15	2217	c.2111G>A	c.(2110-2112)CGA>CAA	p.R704Q	GGCX_uc010yss.1_Missense_Mutation_p.R520Q|GGCX_uc010yst.1_Missense_Mutation_p.R647Q	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	704	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TATCAGATTTCGAAGTGAGAT	0.463		NaN											0	0	0	0.003954	0	21	77				
USP39	10713	broad.mit.edu	37	2	85857963	85857963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85857963G>A	uc002sqe.2	+	6	879	c.843G>A	c.(841-843)ATG>ATA	p.M281I	USP39_uc002sqb.2_Missense_Mutation_p.M12I|USP39_uc010ysu.1_Missense_Mutation_p.M203I|USP39_uc010ysv.1_Missense_Mutation_p.M178I|USP39_uc010fgn.1_Missense_Mutation_p.M281I|USP39_uc002sqf.2_Missense_Mutation_p.M281I|USP39_uc002sqg.2_Missense_Mutation_p.M281I|USP39_uc010fgo.2_Missense_Mutation_p.M281I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	281					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						GAGAGCTGATGAGAAAGCTCT	0.448		NaN											0	0	0	0.01441	0	89	216				
CD8A	925	broad.mit.edu	37	2	87017667	87017667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:87017667C>T	uc002srt.2	-	2	1076	c.187G>A	c.(187-189)GCC>ACC	p.A63T	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A63T|CD8A_uc010ytn.1_Missense_Mutation_p.A104T|CD8A_uc002sru.2_Missense_Mutation_p.A63T	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	63	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						CTGGCGGCGGCGCCGCGCGGC	0.672		NaN											0	0	0	0.014323	0	23	36				
ZNF514	84874	broad.mit.edu	37	2	95815496	95815496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:95815496G>A	uc002sue.1	-	5	1108	c.734C>T	c.(733-735)TCA>TTA	p.S245L	ZNF514_uc002sud.1_Missense_Mutation_p.S318L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	245	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATAAGGGATGAAATATGACC	0.458		NaN											0	0	0	0.01441	0	78	172				
ITPRIPL1	150771	broad.mit.edu	37	2	96992597	96992597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:96992597G>A	uc002svx.2	+	3	563	c.228G>A	c.(226-228)TGG>TGA	p.W76*	ITPRIPL1_uc010yuk.1_Nonsense_Mutation_p.W68*|ITPRIPL1_uc002svy.2_Nonsense_Mutation_p.W84*|ITPRIPL1_uc010yul.1_Nonsense_Mutation_p.W68*	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	76	Extracellular (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						AGAACTTCTGGACAGGAGACA	0.577		NaN											0	0	0	0.012213	0	32	77				
ARID5A	10865	broad.mit.edu	37	2	97217382	97217382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97217382G>C	uc002swe.2	+	7	1217	c.1117G>C	c.(1117-1119)GGG>CGG	p.G373R	ARID5A_uc010yuq.1_Missense_Mutation_p.G321R|ARID5A_uc002swf.2_Missense_Mutation_p.G209R|ARID5A_uc002swg.2_Missense_Mutation_p.G321R	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	373					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						GGTGCTATTGGGGCCTCCTGG	0.587		NaN											0	0	0	0.004482	0	8	22				
FER1L5	90342	broad.mit.edu	37	2	97365766	97365766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97365766G>A	uc010fia.2	+	43	4960	c.4960G>A	c.(4960-4962)GAG>AAG	p.E1654K	FER1L5_uc002sws.3_Missense_Mutation_p.E372K|FER1L5_uc002swt.3_Missense_Mutation_p.E372K|FER1L5_uc010yus.1_Missense_Mutation_p.E371K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1654						integral to membrane				ovary(1)	1						GTTCAGTCCTGAGGAAGATGC	0.527		NaN											0	0	0	0.007291	0	26	50				
COX5B	1329	broad.mit.edu	37	2	98263594	98263594	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:98263594G>A	uc002sya.2	+	2	197	c.168G>A	c.(166-168)AAG>AAA	p.K56K		NM_001862	NP_001853	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb precursor	56					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding				0						TGGCTGCAAAGAAGGGACTGG	0.483		NaN											0	0	0	0.004656	0	26	73				
RPL31	6160	broad.mit.edu	37	2	101622467	101622467	+	Missense_Mutation	SNP	G	G	A	rs11551487		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622467G>A	uc002taq.3	+	4	367	c.280G>A	c.(280-282)GAG>AAG	p.E94K	RPL31_uc002tar.3_Missense_Mutation_p.E94K|RPL31_uc010yvu.1_Missense_Mutation_p.E94K|RPL31_uc010yvv.1_Missense_Mutation_p.E94K|RPL31_uc010fiu.1_Missense_Mutation_p.E94K|RPL31_uc002tas.1_Missense_Mutation_p.E94K|RPL31_uc002tat.1_3'UTR	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	94					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						AAAACGTAATGAGGATGAAGA	0.388		NaN											0	0	0	0.003163	0	7	68				
RPL31	6160	broad.mit.edu	37	2	101622473	101622473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622473G>A	uc002taq.3	+	4	373	c.286G>A	c.(286-288)GAA>AAA	p.E96K	RPL31_uc002tar.3_Missense_Mutation_p.E96K|RPL31_uc010yvu.1_Missense_Mutation_p.E96K|RPL31_uc010yvv.1_Missense_Mutation_p.E96K|RPL31_uc010fiu.1_Missense_Mutation_p.E96K|RPL31_uc002tas.1_Missense_Mutation_p.E96K|RPL31_uc002tat.1_3'UTR	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	96					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TAATGAGGATGAAGATTCACC	0.378		NaN											0	0	0	0.001855	0	5	67				
RPL31	6160	broad.mit.edu	37	2	101622476	101622476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622476G>A	uc002taq.3	+	4	376	c.289G>A	c.(289-291)GAT>AAT	p.D97N	RPL31_uc002tar.3_Missense_Mutation_p.D97N|RPL31_uc010yvu.1_Missense_Mutation_p.D97N|RPL31_uc010yvv.1_Missense_Mutation_p.D97N|RPL31_uc010fiu.1_Missense_Mutation_p.D97N|RPL31_uc002tas.1_Missense_Mutation_p.D97N|RPL31_uc002tat.1_3'UTR	NM_000993	NP_000984	P62899	RL31_HUMAN	ribosomal protein L31 isoform 1	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TGAGGATGAAGATTCACCAAA	0.368		NaN											0	0	0	0.010729	0	5	70				
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068411C>T	uc002tbx.2	+	12	2054	c.1570C>T	c.(1570-1572)CCT>TCT	p.P524S	IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	524	TIR.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						AGAGTCTCTACCTCATCTCGT	0.418		NaN											0	0	0	0.01441	0	81	174				
IL18RAP	8807	broad.mit.edu	37	2	103068499	103068499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068499C>A	uc002tbx.2	+	12	2142	c.1658C>A	c.(1657-1659)GCC>GAC	p.A553D	IL18RAP_uc010fiz.2_Missense_Mutation_p.A411D	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	553	TIR.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						AGGTTCTGGGCCAAAATGCGC	0.463		NaN											1	0	5.72124e-26	0.01441	6.04366e-26	77	171				
SLC9A2	6549	broad.mit.edu	37	2	103236427	103236427	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103236427G>A	uc002tca.2	+	1	262	c.120G>A	c.(118-120)CCG>CCA	p.P40P		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	40	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						TGAACGCGCCGAGGGCCATGG	0.448		NaN											0	0	0	0.009096	0	4	15				
GCC2	9648	broad.mit.edu	37	2	109111783	109111783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109111783G>C	uc002tec.2	+	20	4638	c.4484G>C	c.(4483-4485)CGA>CCA	p.R1495P	GCC2_uc002ted.2_Missense_Mutation_p.R1394P	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1495	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AAGAACCTTCGAGAAAGGAGA	0.433		NaN											0	0	0	0.003163	0	15	50				
RANBP2	5903	broad.mit.edu	37	2	109398587	109398587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109398587G>A	uc002tem.3	+	27	8890	c.8764G>A	c.(8764-8766)GAA>AAA	p.E2922K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2922	RanBD1 4.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATTATAGGTAGAAGTAAAATC	0.353		NaN											0	0	0	0.013537	0	12	88				
ACOXL	55289	broad.mit.edu	37	2	111691109	111691109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:111691109G>A	uc002tgr.3	+	12	1173	c.949G>A	c.(949-951)GAG>AAG	p.E317K	ACOXL_uc010fkc.2_Missense_Mutation_p.E317K|ACOXL_uc010yxk.1_Missense_Mutation_p.E317K	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	317					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						CCAGGGAAAGGAGCTGGTCAA	0.612		NaN											0	0	0	0.001984	0	7	56				
ANAPC1	64682	broad.mit.edu	37	2	112592358	112592358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112592358G>A	uc002thi.2	-	19	2454	c.2207C>T	c.(2206-2208)TCA>TTA	p.S736L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						CTTCATCTGTGAAGCTTCTGA	0.383		NaN											0	0	0	0.004007	0	16	70				
MERTK	10461	broad.mit.edu	37	2	112733015	112733015	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112733015G>A	uc002thk.1	+	7	1232	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	MERTK_uc002thl.1_Silent_p.V194V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	370	Fibronectin type-III 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						GGTCTGCAGTGAGCCCTTGGA	0.483		NaN											0	0	0	0.013114	0	43	97				
MERTK	10461	broad.mit.edu	37	2	112779055	112779055	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112779055A>G	uc002thk.1	+	17	2368	c.2246A>G	c.(2245-2247)TAC>TGC	p.Y749C	MERTK_uc002thl.1_Missense_Mutation_p.Y573C	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	749	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						AAGAAGATTTACAGTGGCGAT	0.483		NaN											0	0	0	0.011902	0	42	122				
SLC20A1	6574	broad.mit.edu	37	2	113417182	113417183	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113417182_113417183GT>TC	uc002tib.2	+	8	1896_1897	c.1450_1451GT>TC	c.(1450-1452)GTC>TCC	p.V484S	SLC20A1_uc002tic.1_Missense_Mutation_p.V296S	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	484	Cytoplasmic (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						AGACATGAGTGTCAAGGCAGAG	0.465		NaN											0	0	0	0.004672	0	89	221				
PSD4	23550	broad.mit.edu	37	2	113941019	113941019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113941019C>G	uc002tjc.2	+	2	1169	c.986C>G	c.(985-987)TCC>TGC	p.S329C	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.S328C|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	329					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						AAACCACACTCCATCTGCTGG	0.617		NaN											0	0	0	0.001984	0	6	44				
PCDP1	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120413990G>A	uc002tmb.2	+	25	2701	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	823						cilium	calmodulin binding				0	Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473		NaN											0	0	0	0.004482	0	7	40				
PTPN4	5775	broad.mit.edu	37	2	120709702	120709702	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120709702A>T	uc002tmf.1	+	19	2581	c.1810A>T	c.(1810-1812)AAT>TAT	p.N604Y	PTPN4_uc010flj.1_Missense_Mutation_p.N317Y|PTPN4_uc010yyr.1_Missense_Mutation_p.N237Y	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	604						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	AGTTCGACCTAATGGTGAGTA	0.284		NaN											0	0	0	0.006122	0	19	142				
SAP130	79595	broad.mit.edu	37	2	128750795	128750795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128750795G>C	uc002tpp.2	-	12	1653	c.1521C>G	c.(1519-1521)ATC>ATG	p.I507M	SAP130_uc002tpn.2_Missense_Mutation_p.I268M|SAP130_uc002tpo.2_Missense_Mutation_p.I252M|SAP130_uc010fmd.2_Missense_Mutation_p.I507M|SAP130_uc002tpq.1_Missense_Mutation_p.I480M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	507					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGGAACTGGTGATTGGGGTGT	0.453		NaN											0	0	0	0.013726	0	32	107				
R3HDM1	23518	broad.mit.edu	37	2	136389328	136389328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136389328G>C	uc002tuo.2	+	8	908	c.538G>C	c.(538-540)GAT>CAT	p.D180H	R3HDM1_uc010fni.2_Missense_Mutation_p.D178H|R3HDM1_uc002tup.2_Missense_Mutation_p.D124H|R3HDM1_uc010zbh.1_Missense_Mutation_p.D12H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	180	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAAATTTTAGATTTCATTGG	0.323		NaN											0	0	0	0.009535	0	30	43				
DARS	1615	broad.mit.edu	37	2	136682034	136682034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136682034G>A	uc002tux.1	-	8	783	c.599C>T	c.(598-600)TCT>TTT	p.S200F	DARS_uc010fnj.1_Missense_Mutation_p.S100F	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	200					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCAGATGCCAGACTGGAGACG	0.358		NaN											0	0	0	0.005443	0	26	36				
NMI	9111	broad.mit.edu	37	2	152127234	152127234	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152127234T>C	uc002txi.2	-	8	1227	c.897A>G	c.(895-897)CAA>CAG	p.Q299Q		NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	299					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CTATGTGAGGTTGACCTAGAG	0.348		NaN											0	0	0	0.01441	0	50	82				
RIF1	55183	broad.mit.edu	37	2	152293454	152293454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152293454C>T	uc002txm.2	+	12	1439	c.1309C>T	c.(1309-1311)CAT>TAT	p.H437Y	RIF1_uc002txl.2_Missense_Mutation_p.H437Y|RIF1_uc010fnv.1_Missense_Mutation_p.H401Y|RIF1_uc002txn.2_Missense_Mutation_p.H437Y|RIF1_uc002txo.2_Missense_Mutation_p.H437Y|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	437					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGTTGCTTCATTTCTTGTT	0.398		NaN											0	0	0	0.003163	0	14	54				
KCNH7	90134	broad.mit.edu	37	2	163236516	163236516	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:163236516C>T	uc002uch.1	-	14	3190	c.2978G>A	c.(2977-2979)CGA>CAA	p.R993Q		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	993	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTCCCAGCTTCGCATGTCAGT	0.488		NaN											0	0	0	0.01441	0	77	87				
XIRP2	129446	broad.mit.edu	37	2	168105892	168105892	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168105892A>G	uc002udx.2	+	8	8008	c.7990A>G	c.(7990-7992)AGG>GGG	p.R2664G	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2489G|XIRP2_uc010fpq.2_Missense_Mutation_p.R2442G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R10G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2489					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ACAAAGCTCAAGGGACATTAT	0.408		NaN											0	0	0	0.00333	0	26	58				
XIRP2	129446	broad.mit.edu	37	2	168106305	168106305	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168106305C>T	uc002udx.2	+	8	8421	c.8403C>T	c.(8401-8403)CCC>CCT	p.P2801P	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2626P|XIRP2_uc010fpq.2_Silent_p.P2579P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.P147P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2626					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGATGGTTCCCAGGAAGCAAA	0.403		NaN											0	0	0	0.013537	0	12	62				
CHN1	1123	broad.mit.edu	37	2	175742603	175742603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:175742603C>A	uc002uji.2	-	6	1044	c.514G>T	c.(514-516)GAT>TAT	p.D172Y	CHN1_uc010zeq.1_Missense_Mutation_p.D172Y|CHN1_uc002ujj.2_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTGTAGAATCTCTCTCATCA	0.398		NaN	T	TAF15	extraskeletal myxoid chondrosarcoma								1	0	8.10497e-08	0.010504	8.35144e-08	21	82				
TTN	7273	broad.mit.edu	37	2	179399128	179399128	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179399128A>G	uc010zfg.1	-	307	94734	c.94510T>C	c.(94510-94512)TGG>CGG	p.W31504R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W25199R|TTN_uc010zfi.1_Missense_Mutation_p.W25132R|TTN_uc010zfj.1_Missense_Mutation_p.W25007R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32431							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTCAACCATGGGTGCTGG	0.428		NaN											0	0	0	0.00623	0	36	73				
TTN	7273	broad.mit.edu	37	2	179401935	179401935	+	Missense_Mutation	SNP	C	C	T	rs72648278		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179401935C>T	uc010zfg.1	-	305	92421	c.92197G>A	c.(92197-92199)GAA>AAA	p.E30733K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24428K|TTN_uc010zfi.1_Missense_Mutation_p.E24361K|TTN_uc010zfj.1_Missense_Mutation_p.E24236K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31660							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAGAGCTTCGATCACAATT	0.428		NaN											0	0	0	0.000602	0	4	30				
TTN	7273	broad.mit.edu	37	2	179464127	179464127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179464127G>A	uc010zfg.1	-	239	48913	c.48689C>T	c.(48688-48690)TCA>TTA	p.S16230L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9925L|TTN_uc010zfi.1_Missense_Mutation_p.S9858L|TTN_uc010zfj.1_Missense_Mutation_p.S9733L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17157							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCTGCTGAAACAGATTC	0.383		NaN											0	0	0	0.012319	0	20	58				
TTN	7273	broad.mit.edu	37	2	179604209	179604209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179604209C>G	uc010zfh.1	-	46	13462	c.13238G>C	c.(13237-13239)GGT>GCT	p.G4413A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G4346A|TTN_uc010zfj.1_Missense_Mutation_p.G4221A|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTCAGTACCACTTTCAGA	0.453		NaN											0	0	0	0.01441	0	46	61				
ANKAR	150709	broad.mit.edu	37	2	190559783	190559783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:190559783G>A	uc002uqw.1	+	5	1171	c.1171G>A	c.(1171-1173)GAA>AAA	p.E391K	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	462						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGCCATAAATGAAATAGTGAA	0.318		NaN											0	0	0	0.005524	0	33	31				
SDPR	8436	broad.mit.edu	37	2	192700708	192700708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700708C>G	uc002utb.2	-	2	1549	c.1219G>C	c.(1219-1221)GAG>CAG	p.E407Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	407						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCGGAGCGCTCCGCCTCCTCG	0.617		NaN											0	0	0	0.005443	0	28	73				
SDPR	8436	broad.mit.edu	37	2	192700978	192700978	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700978C>G	uc002utb.2	-	2	1279	c.949G>C	c.(949-951)GAC>CAC	p.D317H		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	317						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTAGGCAGGTCTTCTGACTTG	0.552		NaN											0	0	0	0.01441	0	74	127				
SDPR	8436	broad.mit.edu	37	2	192701111	192701111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701111C>G	uc002utb.2	-	2	1146	c.816G>C	c.(814-816)AAG>AAC	p.K272N		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	272						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGAGAGATTTCTTAATCTTCT	0.458		NaN											0	0	0	0.01441	0	174	332				
PGAP1	80055	broad.mit.edu	37	2	197791211	197791211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:197791211C>T	uc002utw.2	-	1	244	c.130G>A	c.(130-132)GAG>AAG	p.E44K	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.E44K|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	44	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						TCCGGGTACTCAAACATGTAG	0.547		NaN											0	0	0	0.01441	0	179	145				
MOBKL3	25843	broad.mit.edu	37	2	198380840	198380840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:198380840G>A	uc002uun.3	+	1	70	c.30G>A	c.(28-30)CTG>CTA	p.L10L	MOBKL3_uc002uum.3_Intron|MOBKL3_uc010fsn.2_Silent_p.L10L|MOBKL3_uc010fso.2_5'UTR|MOBKL3_uc010zgz.1_5'UTR	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	10					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			CGGCAGTGCTGAGGCGGAACA	0.687		NaN											0	0	0	0.009096	0	4	6				
C2orf69	205327	broad.mit.edu	37	2	200790122	200790122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:200790122C>G	uc010zhb.1	+	2	854	c.671C>G	c.(670-672)TCT>TGT	p.S224C		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	224						extracellular region				central_nervous_system(1)	1						TCCAGTCCTTCTCATACTACG	0.363		NaN											0	0	0	0.007835	0	43	71				
RAPH1	65059	broad.mit.edu	37	2	204324748	204324748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:204324748C>G	uc002vad.2	-	7	1199	c.974G>C	c.(973-975)AGA>ACA	p.R325T	RAPH1_uc002vae.2_Missense_Mutation_p.R377T|RAPH1_uc002vaf.2_Missense_Mutation_p.R377T	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	325	Ras-associating.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						TTCAAAGATTCTCTCTGTCCC	0.318		NaN											0	0	0	0.003271	0	34	69				
PLEKHM3	389072	broad.mit.edu	37	2	208795688	208795688	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:208795688G>A	uc002vcl.2	-	5	2338	c.1848C>T	c.(1846-1848)TTC>TTT	p.F616F	PLEKHM3_uc002vcm.2_Silent_p.F616F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	616					intracellular signal transduction		metal ion binding			ovary(1)	1						CCCGGCAGCTGAACAAATAGG	0.627		NaN											0	0	0	0.011902	0	22	20				
PLCD4	84812	broad.mit.edu	37	2	219498429	219498429	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219498429C>T	uc002vij.1	+	11	1746	c.1551C>T	c.(1549-1551)TTC>TTT	p.F517F	PLCD4_uc010zkk.1_Silent_p.F67F	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	517	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACTACCACTTCTACGAGATAT	0.502		NaN											0	0	0	0.006122	0	19	59				
RNF25	64320	broad.mit.edu	37	2	219528996	219528996	+	Missense_Mutation	SNP	G	G	C	rs146227317		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219528996G>C	uc002vit.2	-	10	1152	c.1064C>G	c.(1063-1065)CCA>CGA	p.P355R	RNF25_uc010fvw.2_Missense_Mutation_p.P243R	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	355					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCCTTTGGGTGCCTCCG	0.612		NaN											0	0	0	0.004878	0	37	137				
DNER	92737	broad.mit.edu	37	2	230341868	230341868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:230341868G>A	uc002vpv.2	-	7	1396	c.1249C>T	c.(1249-1251)CAG>TAG	p.Q417*	DNER_uc010zly.1_Nonsense_Mutation_p.Q145*	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	417	Extracellular (Potential).|EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTGGACACTGGCAGGTGAAT	0.368		NaN											0	0	0	0.005524	0	38	21				
NEU2	4759	broad.mit.edu	37	2	233899630	233899630	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:233899630G>A	uc010zmn.1	+	2	1006	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	336							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGCCTACTCAGACCTCCAGAG	0.612		NaN											0	0	0	0.01441	0	114	84				
COL6A3	1293	broad.mit.edu	37	2	238266512	238266512	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:238266512T>A	uc002vwl.2	-	22	6770	c.6485A>T	c.(6484-6486)CAA>CTA	p.Q2162L	COL6A3_uc002vwo.2_Missense_Mutation_p.Q1956L|COL6A3_uc010znj.1_Missense_Mutation_p.Q1555L|COL6A3_uc002vwp.1_5'Flank	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2162	Triple-helical region.|Collagen-like 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGCTGTCTTGTCCTGGGTT	0.527		NaN											0	0	0	0.01441	0	166	123				
HDAC4	9759	broad.mit.edu	37	2	240111708	240111708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:240111708C>T	uc002vyk.3	-	4	952	c.160G>A	c.(160-162)GAC>AAC	p.D54N	HDAC4_uc010fyz.1_Missense_Mutation_p.D49N|HDAC4_uc010zoa.1_Missense_Mutation_p.D49N|HDAC4_uc010fza.2_Missense_Mutation_p.D54N|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_Missense_Mutation_p.D6N	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	54					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AACTGGTGGTCCAGGCGCAGG	0.657		NaN											0	0	0	0.007413	0	18	9				
ATG4B	23192	broad.mit.edu	37	2	242598539	242598539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:242598539G>A	uc002wbv.2	+	7	578	c.475G>A	c.(475-477)GAT>AAT	p.D159N	ATG4B_uc002wbu.2_Missense_Mutation_p.D85N|ATG4B_uc002wbw.2_Missense_Mutation_p.D159N|ATG4B_uc010zox.1_Missense_Mutation_p.D145N|ATG4B_uc010zoy.1_Missense_Mutation_p.D85N|ATG4B_uc010fzp.2_Missense_Mutation_p.D159N|ATG4B_uc010zoz.1_Missense_Mutation_p.D85N	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	159					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGCTGTCTTCGATACGTGGAG	0.468		NaN											0	0	0	0.001168	0	6	41				
NOP56	10528	broad.mit.edu	37	20	2636004	2636004	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:2636004G>A	uc002wgh.2	+	6	656	c.603G>A	c.(601-603)GTG>GTA	p.V201V	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Silent_p.V35V|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	201					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						CGGAGCTGGTGAAGATCATCA	0.522		NaN											0	0	0	0.004007	0	15	83				
PLCB1	23236	broad.mit.edu	37	20	8113380	8113380	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:8113380T>C	uc002wnb.2	+	1	85	c.82T>C	c.(82-84)TTC>CTC	p.F28L	PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Missense_Mutation_p.F28L|PLCB1_uc002wmz.1_Missense_Mutation_p.F28L|PLCB1_uc002wna.2_Missense_Mutation_p.F28L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	28				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GGGCACCAAATTCGTCAAGTG	0.682		NaN											0	0	0	0.001168	0	5	5				
TPX2	22974	broad.mit.edu	37	20	30385318	30385318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30385318G>A	uc002wwp.1	+	16	2643	c.1945G>A	c.(1945-1947)GAG>AAG	p.E649K	TPX2_uc010gdv.1_Missense_Mutation_p.E685K	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	649					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCAGTTGCTGGTAGTATTAT	0.463		NaN											0	0	0	0.010818	0	32	121				
FOXS1	2307	broad.mit.edu	37	20	30433105	30433105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30433105G>A	uc002wwt.1	-	1	316	c.241C>T	c.(241-243)CGC>TGC	p.R81C		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	81	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1						CGGTCATCGCGGGGCACCTTG	0.637		NaN											0	0	0	0.003163	0	14	23				
DNMT3B	1789	broad.mit.edu	37	20	31376814	31376814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:31376814C>G	uc002wyc.2	+	7	1130	c.809C>G	c.(808-810)TCC>TGC	p.S270C	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.S270C|DNMT3B_uc002wye.2_Missense_Mutation_p.S270C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.S228C|DNMT3B_uc010zua.1_Missense_Mutation_p.S194C|DNMT3B_uc002wyf.2_Missense_Mutation_p.S282C|DNMT3B_uc002wyg.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	270	PWWP.|Interaction with DNMT1 and DNMT3A.		S -> P (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						GGCAAGTTCTCCGAGGTGAGT	0.607		NaN											0	0	0	0.010504	0	20	25				
RALY	22913	broad.mit.edu	37	20	32659982	32659982	+	Missense_Mutation	SNP	G	G	C	rs114080584	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32659982G>C	uc002xab.2	+	3	400	c.102G>C	c.(100-102)AAG>AAC	p.K34N	RALY_uc010zui.1_Missense_Mutation_p.K34N|RALY_uc002xac.2_Missense_Mutation_p.K34N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.K34N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	34	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						CTCTGGTGAAGAAATCAGATG	0.488		NaN											0	0	0	0.010504	0	21	114				
RALY	22913	broad.mit.edu	37	20	32664519	32664519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32664519G>A	uc002xab.2	+	7	854	c.556G>A	c.(556-558)GAG>AAG	p.E186K	RALY_uc002xac.2_Missense_Mutation_p.E170K|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.E186K	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	186						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						AAAGAGCAGTGAGCTGCAGGC	0.572		NaN											0	0	0	0.006214	0	8	45				
EPB41L1	2036	broad.mit.edu	37	20	34782172	34782172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:34782172G>A	uc002xfb.2	+	12	1510	c.1339G>A	c.(1339-1341)GAT>AAT	p.D447N	EPB41L1_uc002xeu.2_Missense_Mutation_p.D385N|EPB41L1_uc010zvo.1_Missense_Mutation_p.D447N|EPB41L1_uc002xev.2_Missense_Mutation_p.D447N|EPB41L1_uc002xew.2_Missense_Mutation_p.D350N|EPB41L1_uc002xex.2_Missense_Mutation_p.D416N|EPB41L1_uc002xey.2_Missense_Mutation_p.D374N|EPB41L1_uc002xez.2_Missense_Mutation_p.D385N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	447					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CGAGAACCATGATGCAGGGCC	0.597		NaN											0	0	0	0.00308	0	6	28				
DHX35	60625	broad.mit.edu	37	20	37621005	37621005	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:37621005C>T	uc002xjh.2	+	7	530	c.519C>T	c.(517-519)ATC>ATT	p.I173I	DHX35_uc010zwa.1_Silent_p.I18I|DHX35_uc010zwb.1_Silent_p.I18I|DHX35_uc010zwc.1_Silent_p.I142I	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	173	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TTAGTGTCATCATGCTGGATG	0.433		NaN											0	0	0	0.01441	0	49	126				
CHD6	84181	broad.mit.edu	37	20	40065975	40065975	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:40065975C>T	uc002xka.1	-	27	4186	c.4008_splice	c.e27-1	p.R1336_splice	CHD6_uc002xkb.1_Intron	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TGTGTTGCCTCTAAATAAAAG	0.264		NaN											0	0	0	0.00623	0	41	84				
SGK2	10110	broad.mit.edu	37	20	42196637	42196637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:42196637G>C	uc002xkv.2	+	4	625	c.406G>C	c.(406-408)GAG>CAG	p.E136Q	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.E76Q|SGK2_uc010ggm.2_Missense_Mutation_p.E76Q|SGK2_uc002xks.2_Missense_Mutation_p.E76Q|SGK2_uc002xku.2_Missense_Mutation_p.E76Q|SGK2_uc002xkq.1_Missense_Mutation_p.E76Q	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	136	Protein kinase.|Nuclear localization signal (By similarity).				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGAAGAAAGAGGTACCAGA	0.502		NaN											0	0	0	0.008291	0	9	59				
SERINC3	10955	broad.mit.edu	37	20	43141486	43141486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43141486G>C	uc002xme.2	-	3	485	c.351C>G	c.(349-351)TTC>TTG	p.F117L	SERINC3_uc002xmf.1_Missense_Mutation_p.F117L|SERINC3_uc010ggs.1_Missense_Mutation_p.F110L|SERINC3_uc010zwp.1_Missense_Mutation_p.F62L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	117	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTTTTACTTTGAACATGAGCA	0.398		NaN											0	0	0	0.004007	0	17	108				
PKIG	11142	broad.mit.edu	37	20	43243233	43243233	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43243233C>T	uc002xmg.2	+	5	565	c.36C>T	c.(34-36)ATC>ATT	p.I12I	PKIG_uc002xmh.2_Silent_p.I12I|PKIG_uc002xmi.2_Silent_p.I12I	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	12							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGGACTTCATCTCCTGTGACC	0.617		NaN											0	0	0	0.008361	0	31	74				
RIMS4	140730	broad.mit.edu	37	20	43399923	43399923	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43399923C>G	uc002xms.2	-	2	229	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	RIMS4_uc010ggu.2_Missense_Mutation_p.E78Q	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	77					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				TACTTGCCCTCTGAGCCATAG	0.637		NaN											0	0	0	0.003163	0	15	67				
ZMYND8	23613	broad.mit.edu	37	20	45923508	45923508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:45923508C>T	uc002xta.1	-	5	663	c.409G>A	c.(409-411)GAA>AAA	p.E137K	ZMYND8_uc010ghr.1_Missense_Mutation_p.E112K|ZMYND8_uc002xst.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E137K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc010zxy.1_Missense_Mutation_p.E164K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E157K|ZMYND8_uc002xss.2_Missense_Mutation_p.E137K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E132K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E132K|ZMYND8_uc002xte.1_Missense_Mutation_p.E137K|ZMYND8_uc010zya.1_Missense_Mutation_p.E137K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtg.2_Missense_Mutation_p.E131K|ZMYND8_uc010ghs.1_Missense_Mutation_p.E131K	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	137							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGATGCATTCTGCTACTGTA	0.383		NaN											0	0	0	0.01441	0	92	227				
CSE1L	1434	broad.mit.edu	37	20	47704592	47704592	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:47704592C>T	uc002xty.2	+	17	1904	c.1770C>T	c.(1768-1770)TAC>TAT	p.Y590Y	CSE1L_uc010zyg.1_Silent_p.Y373Y|CSE1L_uc010ghx.2_Silent_p.Y534Y|CSE1L_uc010ghy.2_Silent_p.Y211Y|CSE1L_uc010zyh.1_Silent_p.Y239Y	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	590					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TAATCCCCTACATCCCTACTC	0.348		NaN											0	0	0	0.006999	0	36	106				
SLC9A8	23315	broad.mit.edu	37	20	48503324	48503324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:48503324C>T	uc002xuv.1	+	15	1737	c.1527C>T	c.(1525-1527)CTC>CTT	p.L509L	SLC9A8_uc010zym.1_Silent_p.L209L|SLC9A8_uc010gid.2_Silent_p.L133L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	509						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCGGAGCTCACGGAGGAGG	0.647		NaN											0	0	0	0.004656	0	23	61				
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:50255994C>T	uc002xwg.1	-	15	1556	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						AGACTGGTCTCGGCCCACCAG	0.547		NaN									OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	29	88				
TSHZ2	128553	broad.mit.edu	37	20	51871960	51871960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:51871960G>T	uc002xwo.2	+	2	2919	c.1963G>T	c.(1963-1965)GAG>TAG	p.E655*		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	655					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAAGGAGGAGGAGAAGCTGAT	0.592		NaN											1	0	3.09899e-07	0.004482	3.18577e-07	9	69				
GNAS	2778	broad.mit.edu	37	20	57480468	57480468	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:57480468G>C	uc002xzw.2	+	6	2677	c.2392G>C	c.(2392-2394)GAG>CAG	p.E798Q	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E96Q|GNAS_uc002xzx.2_Missense_Mutation_p.E96Q|GNAS_uc010gjr.2_Missense_Mutation_p.E46Q|GNAS_uc002xzy.2_Missense_Mutation_p.E81Q|GNAS_uc002yaa.2_Missense_Mutation_p.E141Q|GNAS_uc010zzt.1_Missense_Mutation_p.E156Q|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E46Q|GNAS_uc002yae.2_Missense_Mutation_p.E80Q	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	155					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCTCTGTGGGAGGATGAAGG	0.473		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	0.006214	0	8	64				
PRIC285	85441	broad.mit.edu	37	20	62195447	62195447	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62195447C>T	uc002yfm.2	-	9	5620	c.4728G>A	c.(4726-4728)CTG>CTA	p.L1576L	PRIC285_uc002yfl.1_Silent_p.L1007L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1576					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTGCAGTGACAGGGGCACCC	0.711		NaN											0	0	0	0.010729	0	10	16				
MYT1	4661	broad.mit.edu	37	20	62838960	62838960	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62838960C>G	uc002yii.2	+	7	775	c.411C>G	c.(409-411)GTC>GTG	p.V137V	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	137					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCCCCGTCAAGTCCCATT	0.582		NaN											0	0	0	0.008871	0	18	117				
SFRS15	57466	broad.mit.edu	37	21	33044531	33044531	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:33044531C>G	uc002ypd.2	-	20	3051	c.2625G>C	c.(2623-2625)TTG>TTC	p.L875F	SFRS15_uc002ype.2_Missense_Mutation_p.L853F|SFRS15_uc010glu.2_Missense_Mutation_p.L860F	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	875						nucleus	nucleotide binding|RNA binding				0						GGGGCGGCATCAAAGGGAACC	0.632		NaN											0	0	0	0.014323	0	22	73				
ITSN1	6453	broad.mit.edu	37	21	35153820	35153820	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:35153820A>G	uc002yta.1	+	15	1920	c.1652A>G	c.(1651-1653)CAA>CGA	p.Q551R	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmg.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmi.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmj.2_Missense_Mutation_p.Q435R|ITSN1_uc002ysy.2_Missense_Mutation_p.Q551R|ITSN1_uc002ysx.2_Missense_Mutation_p.Q514R|ITSN1_uc002ytb.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytc.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.Q514R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.Q485R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	551	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTCAATGACCAATTAAAACAA	0.299		NaN											0	0	0	0.006122	0	15	122				
MORC3	23515	broad.mit.edu	37	21	37741509	37741509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:37741509G>A	uc002yvi.2	+	15	1919	c.1843G>A	c.(1843-1845)GAC>AAC	p.D615N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	615					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GTTTGTGGGTGACAGTGAACC	0.473		NaN											0	0	0	0.01441	0	70	130				
TTC3	7267	broad.mit.edu	37	21	38519889	38519889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:38519889G>A	uc002yvz.2	+	22	2107	c.2002G>A	c.(2002-2004)GAT>AAT	p.D668N	TTC3_uc011aee.1_Missense_Mutation_p.D358N|TTC3_uc002ywa.2_Missense_Mutation_p.D668N|TTC3_uc002ywb.2_Missense_Mutation_p.D668N|TTC3_uc010gnf.2_Missense_Mutation_p.D433N|TTC3_uc002ywc.2_Missense_Mutation_p.D358N|TTC3_uc011aed.1_Missense_Mutation_p.D358N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	668					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				ATACATAACTGATCCAGACTT	0.378		NaN											0	0	0	0.01441	0	58	179				
ERG	2078	broad.mit.edu	37	21	39755527	39755527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:39755527G>A	uc010gnw.2	-	12	1554	c.1259C>T	c.(1258-1260)TCA>TTA	p.S420L	ERG_uc002yxa.2_Missense_Mutation_p.S413L|ERG_uc011aek.1_Missense_Mutation_p.S321L|ERG_uc010gnv.2_Missense_Mutation_p.S297L|ERG_uc010gnx.2_Missense_Mutation_p.S396L|ERG_uc011ael.1_Missense_Mutation_p.S420L|ERG_uc002yxb.2_Missense_Mutation_p.S396L	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	420					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CGGGAGGTCTGAGGGGTACTT	0.597		NaN											0	0	0	0.01441	0	62	71				
BRWD1	54014	broad.mit.edu	37	21	40559037	40559037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:40559037G>A	uc002yxk.1	-	42	7017	c.6878C>T	c.(6877-6879)TCT>TTT	p.S2293F	BRWD1_uc010goc.1_Missense_Mutation_p.S936F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCACTTTCAGAATTTATGGT	0.343		NaN											0	0	0	0.01441	0	56	146				
PCNT	5116	broad.mit.edu	37	21	47851851	47851851	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:47851851G>C	uc002zji.3	+	38	8580	c.8473G>C	c.(8473-8475)GAG>CAG	p.E2825Q	PCNT_uc002zjj.2_Missense_Mutation_p.E2707Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2825	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GCTTGAGGCTGAGGCTCAGAA	0.572		NaN											0	0	0	0.004482	0	9	45				
BCL2L13	23786	broad.mit.edu	37	22	18209590	18209590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:18209590G>C	uc002zmw.2	+	7	966	c.748G>C	c.(748-750)GAG>CAG	p.E250Q	BCL2L13_uc002zmx.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E88Q|BCL2L13_uc011agk.1_Missense_Mutation_p.E126Q|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zna.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	250	A.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CTGGCAGTCTGAGAGCTTACC	0.537		NaN											0	0	0	0.00308	0	8	52				
MAPK1	5594	broad.mit.edu	37	22	22161970	22161970	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22161970G>A	uc002zvn.2	-	2	525	c.285C>T	c.(283-285)ATC>ATT	p.I95I	MAPK1_uc002zvo.2_Silent_p.I95I|MAPK1_uc010gtk.1_Silent_p.I95I	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	95	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCATTTGCTCGATGGTTGGTG	0.403		NaN											0	0	0	0.00308	0	8	110				
ZNF280A	129025	broad.mit.edu	37	22	22868615	22868615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22868615C>T	uc002zwe.2	-	2	1593	c.1340G>A	c.(1339-1341)AGA>AAA	p.R447K	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACCCTCCTTCTGCTGTGCCT	0.413		NaN											0	0	0	0.013726	0	33	143				
CRYBA4	1413	broad.mit.edu	37	22	27019252	27019252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:27019252G>C	uc003acz.3	+	3	129	c.94G>C	c.(94-96)GAG>CAG	p.E32Q		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	32	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						GTTCACGGCCGAGTGCCCCAG	0.592		NaN											0	0	0	0.003163	0	15	90				
MYH9	4627	broad.mit.edu	37	22	36681274	36681274	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:36681274G>A	uc003apg.2	-	38	5607	c.5376C>T	c.(5374-5376)GTC>GTT	p.V1792V		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1792	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGCAGCTTGACCTTAAGCT	0.587		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.004656	0	26	88				
TCF20	6942	broad.mit.edu	37	22	42609885	42609885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42609885G>T	uc003bcj.1	-	1	1561	c.1427C>A	c.(1426-1428)TCT>TAT	p.S476Y	TCF20_uc003bck.1_Missense_Mutation_p.S476Y|TCF20_uc003bnt.2_Missense_Mutation_p.S476Y	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CAGGGCATCAGAAAGTAACAT	0.478		NaN											1	0	1.55811e-20	0.008361	1.63806e-20	31	197				
TCF20	6942	broad.mit.edu	37	22	42610021	42610021	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42610021G>C	uc003bcj.1	-	1	1425	c.1291C>G	c.(1291-1293)CAT>GAT	p.H431D	TCF20_uc003bck.1_Missense_Mutation_p.H431D|TCF20_uc003bnt.2_Missense_Mutation_p.H431D	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CCTGCAGCATGAGAATTAGGA	0.488		NaN											0	0	0	0.005443	0	27	120				
MCAT	27349	broad.mit.edu	37	22	43538972	43538972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43538972G>A	uc003bdl.1	-	1	432	c.383C>T	c.(382-384)TCG>TTG	p.S128L	MCAT_uc003bdm.1_Missense_Mutation_p.S128L	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	128					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)				AGCGGCCAGCGATGCCACGAA	0.682		NaN											0	0	0	0.009096	0	3	5				
SCUBE1	80274	broad.mit.edu	37	22	43634897	43634897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43634897C>T	uc003bdt.1	-	7	879	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	SCUBE1_uc003bdu.1_Missense_Mutation_p.R294Q	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	264	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GCAGCTGCATCGCACGCCAGT	0.607		NaN											0	0	0	0.006214	0	8	21				
CELSR1	9620	broad.mit.edu	37	22	46932099	46932099	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:46932099C>T	uc003bhw.1	-	1	969	c.969G>A	c.(967-969)GTG>GTA	p.V323V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	323	Extracellular (Potential).|Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGGCTTTCACCCTGAGGA	0.642		NaN											0	0	0	0.001984	0	7	62				
MIOX	55586	broad.mit.edu	37	22	50928201	50928201	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:50928201C>T	uc003bll.1	+	10	888	c.774C>T	c.(772-774)TGC>TGT	p.C258C	MIOX_uc003blm.1_Missense_Mutation_p.P254S|MIOX_uc003bln.1_Missense_Mutation_p.P215S	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	258					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACACCAAGTGCCCGGACCTGC	0.642		NaN											0	0	0	0.012213	0	28	56				
OXTR	5021	broad.mit.edu	37	3	8809175	8809175	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:8809175G>A	uc003brc.2	-	3	1321	c.699C>T	c.(697-699)CTC>CTT	p.L233L		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	233	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CAGCGGTCTTGAGCCGCAAGT	0.657		NaN											0	0	0	0.009096	0	4	14				
OGG1	4968	broad.mit.edu	37	3	9792844	9792844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9792844C>T	uc003bsi.2	+	2	696	c.353C>T	c.(352-354)TCC>TTC	p.S118F	OGG1_uc003bsh.2_Missense_Mutation_p.S118F|OGG1_uc003bsj.2_Missense_Mutation_p.S118F|OGG1_uc003bsk.2_Missense_Mutation_p.S118F|OGG1_uc003bsl.2_Missense_Mutation_p.S118F|OGG1_uc003bsm.2_Missense_Mutation_p.S118F|OGG1_uc003bsn.2_Missense_Mutation_p.S118F|OGG1_uc003bso.2_Missense_Mutation_p.S118F|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	118					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					TCCGTGGACTCCCACTTCCAA	0.473		NaN						BER_DNA_glycosylases					0	0	0	0.012319	0	21	31				
IL17RC	84818	broad.mit.edu	37	3	9974537	9974537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9974537C>T	uc003bua.2	+	18	1966	c.1730C>T	c.(1729-1731)TCG>TTG	p.S577L	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.S506L|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Missense_Mutation_p.S47L|IL17RC_uc003bub.2_Missense_Mutation_p.S491L|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Missense_Mutation_p.S474L|IL17RC_uc011atq.1_Missense_Mutation_p.S491L|IL17RC_uc003buc.2_Intron|IL17RC_uc003bue.2_Intron|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	577	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GACGTCCGCTCGGGGGGTGAG	0.692		NaN									OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	4	7				
TMEM40	55287	broad.mit.edu	37	3	12783971	12783971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:12783971C>T	uc003bxg.1	-	5	464	c.337G>A	c.(337-339)GAG>AAG	p.E113K	TMEM40_uc003bxh.1_Missense_Mutation_p.E83K|TMEM40_uc003bxi.1_Missense_Mutation_p.E37K|TMEM40_uc011auv.1_Missense_Mutation_p.E129K	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	113						integral to membrane					0						AGTTGAAGCTCATCCTTCAAA	0.507		NaN											0	0	0	0.007291	0	26	196				
FBXL2	25827	broad.mit.edu	37	3	33400807	33400807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:33400807C>G	uc003cfp.2	+	4	224	c.153C>G	c.(151-153)AAC>AAG	p.N51K	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	51	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						ATGGAAGCAACTGGCAAAGAA	0.378		NaN											0	0	0	0.008291	0	9	73				
GORASP1	64689	broad.mit.edu	37	3	39139937	39139937	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:39139937C>T	uc003ciw.1	-	9	1211	c.1113G>A	c.(1111-1113)CTG>CTA	p.L371L	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Silent_p.L276L|GORASP1_uc003ciz.1_Silent_p.L216L	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	371					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGCTGTCCAGGAAGGAGA	0.592		NaN											0	0	0	0.00245	0	15	33				
CCDC13	152206	broad.mit.edu	37	3	42777313	42777313	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:42777313C>T	uc003cly.3	-	10	1341	c.1257G>A	c.(1255-1257)CTG>CTA	p.L419L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	419	Potential.									ovary(1)	1						CCTCGCTGTTCAGTTGCTGGT	0.622		NaN											0	0	0	0.010504	0	22	63				
CDCP1	64866	broad.mit.edu	37	3	45152268	45152268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:45152268G>A	uc003com.2	-	4	856	c.721C>T	c.(721-723)CCA>TCA	p.P241S	CDCP1_uc003con.2_Missense_Mutation_p.P241S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	241	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AAGCCTTCTGGGTAGTTGGCA	0.542		NaN											0	0	0	0.01441	0	94	169				
CCR3	1232	broad.mit.edu	37	3	46307616	46307616	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:46307616C>T	uc003cpg.1	+	4	1510	c.967C>T	c.(967-969)CAC>TAC	p.H323Y	CCR3_uc003cpi.1_Missense_Mutation_p.H323Y|CCR3_uc003cpj.1_Missense_Mutation_p.H323Y|CCR3_uc003cpk.1_Missense_Mutation_p.H344Y|CCR3_uc010hjb.1_Missense_Mutation_p.H341Y|CCR3_uc003cpl.1_Missense_Mutation_p.H356Y	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	323	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTTGCTCATGCACCTGGGCAG	0.532		NaN											0	0	0	0.00632	0	29	56				
NBEAL2	23218	broad.mit.edu	37	3	47044731	47044731	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47044731G>A	uc003cqp.2	+	35	5831	c.5652G>A	c.(5650-5652)GTG>GTA	p.V1884V	NBEAL2_uc010hjm.1_Silent_p.V1261V|NBEAL2_uc010hjn.1_Silent_p.V280V|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1884							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGCCAAAGTGAGCACCCCAC	0.637		NaN											0	0	0	0.000602	0	4	32				
SETD2	29072	broad.mit.edu	37	3	47164187	47164187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47164187C>T	uc003cqs.2	-	3	1992	c.1939G>A	c.(1939-1941)GAT>AAT	p.D647N	SETD2_uc003cqv.2_Missense_Mutation_p.D636N	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATACTATCATGGCTATCA	0.318		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.004007	0	17	110		Valid		
STAB1	23166	broad.mit.edu	37	3	52538540	52538540	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:52538540C>A	uc003dej.2	+	11	1288	c.1214C>A	c.(1213-1215)TCC>TAC	p.S405Y	STAB1_uc003dei.1_Missense_Mutation_p.S405Y	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	405	Extracellular (Potential).|FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCGTCTCCTCCTTCTCC	0.642		NaN											1	0	7.93312e-07	0.00245	8.1363e-07	13	60				
RFT1	91869	broad.mit.edu	37	3	53159984	53159984	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:53159984G>A	uc003dgj.2	-	2	144	c.90C>T	c.(88-90)GTC>GTT	p.V30V	RFT1_uc003dgk.2_Silent_p.V30V	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	30	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ATGCATTCAAGACAAAGGTGA	0.393		NaN											0	0	0	0.009096	0	3	41				
FLNB	2317	broad.mit.edu	37	3	58109122	58109122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:58109122C>T	uc003djj.2	+	21	3594	c.3429C>T	c.(3427-3429)CTC>CTT	p.L1143L	FLNB_uc010hne.2_Silent_p.L1143L|FLNB_uc003djk.2_Silent_p.L1143L|FLNB_uc010hnf.2_Silent_p.L1143L|FLNB_uc003djl.2_Silent_p.L974L|FLNB_uc003djm.2_Silent_p.L974L	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1143	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCCAGGTCTCGAGCACGGGA	0.592		NaN											0	0	0	0.01441	0	57	119				
CADPS	8618	broad.mit.edu	37	3	62423858	62423858	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:62423858T>C	uc003dll.2	-	28	4058	c.3698A>G	c.(3697-3699)TAC>TGC	p.Y1233C	CADPS_uc003dlj.1_Missense_Mutation_p.Y188C|CADPS_uc003dlk.1_Missense_Mutation_p.Y681C|CADPS_uc003dlm.2_Missense_Mutation_p.Y1194C|CADPS_uc003dln.2_Missense_Mutation_p.Y1154C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1233	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAGTCACGTAGGCGTCGGC	0.443		NaN											0	0	0	0.003163	0	15	36				
GXYLT2	727936	broad.mit.edu	37	3	73004392	73004393	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:73004392_73004393GA>CT	uc003dpg.2	+	4	744_745	c.744_745GA>CT	c.(742-747)AAGATT>AACTTT	p.248_249KI>NF		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	248_249	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						AAATCCCCAAGATTGGCTGGTA	0.475		NaN											0	0	0	0.004672	0	8	30				
C3orf38	285237	broad.mit.edu	37	3	88205273	88205273	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:88205273C>G	uc003dqw.2	+	4	789	c.478C>G	c.(478-480)CTA>GTA	p.L160V		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	hypothetical protein LOC285237	160					apoptosis						0		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAATCCTTTTCTAGGACCACC	0.388		NaN											0	0	0	0.01441	0	48	114				
OR5K3	403277	broad.mit.edu	37	3	98110249	98110249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98110249C>T	uc011bgw.1	+	1	740	c.740C>T	c.(739-741)TCA>TTA	p.S247L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCTCTGTGTCAATATTCTGT	0.353		NaN											0	0	0	0.01441	0	70	134				
GPR15	2838	broad.mit.edu	37	3	98251707	98251707	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98251707C>T	uc011bgy.1	+	1	830	c.830C>T	c.(829-831)TCA>TTA	p.S277L		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	277	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TATTTACCCTCAGCTATTCTT	0.478		NaN											0	0	0	0.012319	0	22	143				
GPR128	84873	broad.mit.edu	37	3	100354655	100354655	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100354655A>G	uc003duc.2	+	5	850	c.582A>G	c.(580-582)AGA>AGG	p.R194R	GPR128_uc011bhc.1_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	194	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						ACACTTCCAGAAATGCTTCAC	0.373		NaN											0	0	0	0.013114	0	34	56				
RG9MTD1	54931	broad.mit.edu	37	3	101284754	101284754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:101284754C>G	uc003duz.2	+	2	1277	c.1129C>G	c.(1129-1131)CCC>GCC	p.P377A		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	377					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						GCAATTCGTTCCCAAGAGAAA	0.343		NaN											0	0	0	0.01441	0	51	82				
CD47	961	broad.mit.edu	37	3	107778373	107778373	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:107778373T>C	uc003dwt.1	-	5	797	c.617A>G	c.(616-618)AAT>AGT	p.N206S	CD47_uc003dwu.1_Missense_Mutation_p.N206S|CD47_uc003dwv.1_Missense_Mutation_p.N206S|CD47_uc003dww.1_Missense_Mutation_p.N206S	NM_001777	NP_001768	Q08722	CD47_HUMAN	CD47 antigen isoform 1 precursor	206	Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GCCAGTAGCATTCTTTAATGA	0.284		NaN											0	0	0	0.014323	0	21	165				
SIDT1	54847	broad.mit.edu	37	3	113321989	113321989	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113321989C>T	uc003eak.2	+	12	1906	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R419W|SIDT1_uc011big.1_Missense_Mutation_p.R172W|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	419	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						AAACATCATCCGGACCAAGGT	0.507		NaN											0	0	0	0.008291	0	9	62				
KIAA2018	205717	broad.mit.edu	37	3	113393710	113393710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113393710C>T	uc003eam.2	-	3	427	c.16G>A	c.(16-18)GAG>AAG	p.E6K		NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	6					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GTCTCATTCTCTGTCATTTCT	0.383		NaN											0	0	0	0.00632	0	26	192				
POLQ	10721	broad.mit.edu	37	3	121207358	121207358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121207358C>T	uc003eee.3	-	16	4549	c.4420G>A	c.(4420-4422)GAA>AAA	p.E1474K	POLQ_uc003eed.2_Missense_Mutation_p.E646K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1474					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GGAAGACATTCTCCTTCTACA	0.333		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.009535	0	33	171				
GOLGB1	2804	broad.mit.edu	37	3	121414092	121414092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414092C>G	uc003eei.3	-	13	5389	c.5263G>C	c.(5263-5265)GAG>CAG	p.E1755Q	GOLGB1_uc010hrc.2_Missense_Mutation_p.E1760Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E1721Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1641Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1719Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1755	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGAACCTCTTCACTTAGA	0.383		NaN											0	0	0	0.01441	0	88	329				
GOLGB1	2804	broad.mit.edu	37	3	121414425	121414425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414425G>A	uc003eei.3	-	13	5056	c.4930C>T	c.(4930-4932)CAA>TAA	p.Q1644*	GOLGB1_uc010hrc.2_Nonsense_Mutation_p.Q1649*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.Q1610*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.Q1530*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.Q1608*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1644	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TACAGTTCTTGTTTCTCTTGC	0.408		NaN											0	0	0	0.01441	0	137	227				
GOLGB1	2804	broad.mit.edu	37	3	121416388	121416388	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416388C>T	uc003eei.3	-	13	3093	c.2967G>A	c.(2965-2967)GAG>GAA	p.E989E	GOLGB1_uc010hrc.2_Silent_p.E994E|GOLGB1_uc003eej.3_Silent_p.E955E|GOLGB1_uc011bjm.1_Silent_p.E875E|GOLGB1_uc010hrd.1_Silent_p.E953E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	989	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTCTCTGCTCATTTTCTT	0.388		NaN											0	0	0	0.01441	0	61	190				
GOLGB1	2804	broad.mit.edu	37	3	121416969	121416969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416969C>T	uc003eei.3	-	13	2512	c.2386G>A	c.(2386-2388)GAA>AAA	p.E796K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E801K|GOLGB1_uc003eej.3_Missense_Mutation_p.E762K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E682K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E760K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	796	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCTGTTCAGTGAGCAGG	0.418		NaN											0	0	0	0.01441	0	94	226				
GOLGB1	2804	broad.mit.edu	37	3	121417118	121417118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121417118C>G	uc003eei.3	-	13	2363	c.2237G>C	c.(2236-2238)AGA>ACA	p.R746T	GOLGB1_uc010hrc.2_Missense_Mutation_p.R751T|GOLGB1_uc003eej.3_Missense_Mutation_p.R712T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R632T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R710T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	746	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AAGCTGGTCTCTTTCTTCAGA	0.423		NaN											0	0	0	0.01441	0	63	175				
KPNA1	3836	broad.mit.edu	37	3	122168479	122168479	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:122168479C>G	uc003efd.1	-	9	895	c.859G>C	c.(859-861)GAT>CAT	p.D287H	KPNA1_uc003efb.1_Missense_Mutation_p.D86H|KPNA1_uc003efc.1_Missense_Mutation_p.D86H|KPNA1_uc011bjr.1_Missense_Mutation_p.D86H|KPNA1_uc010hrh.2_Missense_Mutation_p.D86H|KPNA1_uc003efe.2_Missense_Mutation_p.D287H	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	287	Binding to RAG1.|ARM 5.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		TGAATTTTATCATTGGGTCCA	0.458		NaN											0	0	0	0.006122	0	18	102				
KALRN	8997	broad.mit.edu	37	3	124165699	124165699	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:124165699G>A	uc003ehg.2	+	21	3640	c.3513G>A	c.(3511-3513)CTG>CTA	p.L1171L	KALRN_uc010hrv.1_Silent_p.L1162L|KALRN_uc003ehf.1_Silent_p.L1171L|KALRN_uc011bjy.1_Silent_p.L1162L|KALRN_uc003ehh.1_Silent_p.L517L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1171	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGGAACTGCTGAAAGAATATG	0.502		NaN											0	0	0	0.01441	0	71	137				
MCM2	4171	broad.mit.edu	37	3	127327705	127327705	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:127327705G>A	uc003ejp.2	+	8	1324	c.1267G>A	c.(1267-1269)GAT>AAT	p.D423N	MCM2_uc011bkm.1_Missense_Mutation_p.D293N|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.D307N	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	423					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CAACAACTATGATGGCTCCCT	0.567		NaN											0	0	0	0.01441	0	114	145				
PLXND1	23129	broad.mit.edu	37	3	129288723	129288723	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:129288723G>A	uc003emx.2	-	20	3928	c.3828C>T	c.(3826-3828)ATC>ATT	p.I1276I	PLXND1_uc011blb.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1276	Helical; (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGCAGATGACGATGGACACGA	0.637		NaN											0	0	0	0.00308	0	7	48				
DNAJC13	23317	broad.mit.edu	37	3	132185190	132185190	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:132185190G>A	uc003eor.2	+	19	2081	c.2016G>A	c.(2014-2016)GAG>GAA	p.E672E	DNAJC13_uc010htq.1_Silent_p.E672E	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672							heat shock protein binding			ovary(1)|breast(1)	2						TCGTACCTGAGAAGGATGCTG	0.393		NaN											0	0	0	0.00245	0	14	121				
EPHB1	2047	broad.mit.edu	37	3	134967280	134967280	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:134967280G>A	uc003eqt.2	+	14	2839	c.2619G>A	c.(2617-2619)GAG>GAA	p.E873E	EPHB1_uc003equ.2_Silent_p.E434E	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	873	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GGTTTGCGGAGATTGTCAACA	0.572		NaN											0	0	0	0.00499	0	17	35				
MSL2	55167	broad.mit.edu	37	3	135913931	135913931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:135913931G>A	uc003eqx.1	-	1	758	c.25C>T	c.(25-27)CTC>TTC	p.L9F	MSL2_uc011bmb.1_5'Flank	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	9					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						GAAATGTAGAGAGCAGTAGCA	0.527		NaN											0	0	0	0.01441	0	99	199				
ESYT3	83850	broad.mit.edu	37	3	138187010	138187010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:138187010C>T	uc003esk.2	+	12	1508	c.1282C>T	c.(1282-1284)CTT>TTT	p.L428F	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	428						integral to membrane|plasma membrane					0						GCTTTCATTGCTTACTGACCA	0.587		NaN											0	0	0	0.010504	0	18	39				
ATR	545	broad.mit.edu	37	3	142184050	142184050	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:142184050C>G	uc003eux.3	-	41	7052	c.6930G>C	c.(6928-6930)AAG>AAC	p.K2310N	ATR_uc003euy.1_Missense_Mutation_p.K196N	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2310					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						AAGAAATCTTCTTTGGTTTCT	0.318		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.007413	0	18	109				
C3orf58	205428	broad.mit.edu	37	3	143691397	143691397	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:143691397G>A	uc003evo.2	+	1	758	c.223G>A	c.(223-225)GAG>AAG	p.E75K	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	75						COPI vesicle coat|extracellular region				ovary(1)	1						GGTGGTATTCGAGGCGTGGGG	0.672		NaN											0	0	0	0.00632	0	24	51				
PLOD2	5352	broad.mit.edu	37	3	145804623	145804623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:145804623C>A	uc003evs.1	-	10	1584	c.1078G>T	c.(1078-1080)GTA>TTA	p.V360L	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.V305L|PLOD2_uc003evr.1_Missense_Mutation_p.V360L	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	360					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TCTGGTCCTACTATTTTTATA	0.254		NaN											1	0	0.00198382	0.001984	0.0020089	7	23				
P2RY13	53829	broad.mit.edu	37	3	151046193	151046193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:151046193G>C	uc003eyv.2	-	2	672	c.651C>G	c.(649-651)TTC>TTG	p.F217L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	217	Helical; Name=5; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAACAGTCCAGAAAATAAACT	0.358		NaN											0	0	0	0.00245	0	14	141				
SLC33A1	9197	broad.mit.edu	37	3	155571325	155571325	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:155571325G>A	uc003fan.3	-	1	843	c.462C>T	c.(460-462)TTC>TTT	p.F154F	SLC33A1_uc003fao.1_Silent_p.F154F	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	154	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATAGATCATGAAGAGTCCTA	0.468		NaN											0	0	0	0.003271	0	33	83				
IFT80	57560	broad.mit.edu	37	3	159995413	159995413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:159995413G>A	uc011boy.1	-	17	2315	c.1882C>T	c.(1882-1884)CGA>TGA	p.R628*	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Nonsense_Mutation_p.R491*|IFT80_uc003fdd.1_Nonsense_Mutation_p.R311*|IFT80_uc003fde.1_Nonsense_Mutation_p.R491*	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	628						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCATATCTCGATTAGCAACT	0.343		NaN											0	0	0	0.007413	0	17	53				
NMD3	51068	broad.mit.edu	37	3	160958933	160958933	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:160958933G>C	uc003feb.1	+	10	972	c.853G>C	c.(853-855)GAT>CAT	p.D285H	NMD3_uc003fec.2_Missense_Mutation_p.D285H|NMD3_uc003fed.1_Missense_Mutation_p.D285H|NMD3_uc010hwh.2_Missense_Mutation_p.D105H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	285					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCACCTCATTGATCCAAACAC	0.363		NaN											0	0	0	0.006122	0	17	154				
FNDC3B	64778	broad.mit.edu	37	3	172028660	172028660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:172028660G>C	uc003fhy.2	+	11	1415	c.1243G>C	c.(1243-1245)GAG>CAG	p.E415Q	FNDC3B_uc003fhz.3_Missense_Mutation_p.E415Q|FNDC3B_uc003fia.2_Missense_Mutation_p.E346Q	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	415	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTACCTTTTAGAGTGGGATGA	0.313		NaN											0	0	0	0.006214	0	10	303				
ABCC5	10057	broad.mit.edu	37	3	183700753	183700753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:183700753C>G	uc003fmg.2	-	6	799	c.634G>C	c.(634-636)GAG>CAG	p.E212Q	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.E212Q	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	212	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGTTAGACTCTGTTGCCTGG	0.527		NaN											0	0	0	0.00278	0	22	126				
ECE2	9718	broad.mit.edu	37	3	184002817	184002817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:184002817G>A	uc003fni.3	+	9	1464	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	ECE2_uc011brh.1_Missense_Mutation_p.D329N|ECE2_uc003fnl.3_Missense_Mutation_p.D404N|ECE2_uc003fnm.3_Missense_Mutation_p.D358N|ECE2_uc003fnk.3_Missense_Mutation_p.D329N|ECE2_uc011bri.1_Missense_Mutation_p.D391N|ECE2_uc010hxv.2_Missense_Mutation_p.D120N	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	476	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGTTGAGTGACTCTGAGCC	0.552		NaN									OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	49	126				
TNK2	10188	broad.mit.edu	37	3	195615316	195615316	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:195615316C>T	uc003fvu.1	-	2	687	c.144G>A	c.(142-144)AAG>AAA	p.K48K	TNK2_uc003fvs.1_Silent_p.K80K|TNK2_uc003fvt.1_Silent_p.K111K|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Silent_p.K62K	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	48	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCATGCCGATCTTCTCCAGGT	0.607		NaN											0	0	0	0.009096	0	4	65				
GAK	2580	broad.mit.edu	37	4	861130	861130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:861130G>A	uc003gbm.3	-	21	2685	c.2486C>T	c.(2485-2487)TCA>TTA	p.S829L	GAK_uc003gbn.3_Missense_Mutation_p.S750L|GAK_uc010ibk.1_Missense_Mutation_p.S723L|GAK_uc010ibi.2_Missense_Mutation_p.S10L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S693L	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	829					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CCCTTCATCTGACACCTCACT	0.617		NaN											0	0	0	0.005443	0	23	114				
WHSC1	7468	broad.mit.edu	37	4	1918678	1918678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:1918678C>A	uc003gdz.3	+	4	1017	c.841C>A	c.(841-843)CTC>ATC	p.L281I	WHSC1_uc003geb.3_Missense_Mutation_p.L281I|WHSC1_uc003gec.3_Missense_Mutation_p.L281I|WHSC1_uc003ged.3_Missense_Mutation_p.L281I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.L281I|WHSC1_uc003gdy.1_Missense_Mutation_p.L281I|WHSC1_uc010icd.1_Missense_Mutation_p.L281I|WHSC1_uc003gea.1_Missense_Mutation_p.L281I|WHSC1_uc010ice.1_Missense_Mutation_p.L281I|WHSC1_uc003geh.1_Missense_Mutation_p.L281I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	281	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAGAAGAGCCTCGTAGCTTT	0.428		NaN	T	IGH@	MM								1	0	2.39556e-15	0.00278	2.50355e-15	23	82				
HAUS3	79441	broad.mit.edu	37	4	2238119	2238119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:2238119C>G	uc003ges.1	-	4	1644	c.1414G>C	c.(1414-1416)GAG>CAG	p.E472Q	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E472Q|HAUS3_uc003get.1_Missense_Mutation_p.E472Q	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	472	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						GCCACTTCCTCAAGGTTTCCA	0.323		NaN											0	0	0	0.004007	0	16	121				
CCDC96	257236	broad.mit.edu	37	4	7044095	7044095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:7044095G>A	uc003gjv.2	-	1	634	c.571C>T	c.(571-573)CCG>TCG	p.P191S	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	191	Glu-rich.										0						CTTTTGGCCGGGCGTccttcc	0.403		NaN											0	0	0	0.00308	0	8	33				
CPZ	8532	broad.mit.edu	37	4	8602948	8602948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:8602948G>A	uc003glm.2	+	3	346	c.220G>A	c.(220-222)GAG>AAG	p.E74K	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.E63K|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	74	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GGAGGTGGTGGAGGCCAGCTC	0.647		NaN											0	0	0	0.00308	0	8	23				
ARAP2	116984	broad.mit.edu	37	4	36212232	36212232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:36212232G>A	uc003gsq.1	-	6	1605	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	ARAP2_uc003gsr.1_Nonsense_Mutation_p.Q423*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	423					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTTAAACTCTGAAAGCATTCT	0.368		NaN											0	0	0	0.01441	0	54	199				
UGDH	7358	broad.mit.edu	37	4	39506886	39506886	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:39506886G>A	uc003guk.1	-	9	1458	c.1142C>T	c.(1141-1143)TCT>TTT	p.S381F	UGDH_uc011byp.1_Missense_Mutation_p.S284F|UGDH_uc003gul.1_Missense_Mutation_p.S314F	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	381					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	ACCTGGATGAGAAAGATCCAC	0.358		NaN											0	0	0	0.010504	0	20	111				
NSUN7	79730	broad.mit.edu	37	4	40763266	40763266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:40763266G>C	uc003gvj.3	+	4	931	c.436G>C	c.(436-438)GAT>CAT	p.D146H	NSUN7_uc003gvh.2_Missense_Mutation_p.D146H|NSUN7_uc003gvi.3_Missense_Mutation_p.D146H	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TGTCCTTTCTGATAATGAAGA	0.323		NaN											0	0	0	0.008361	0	31	141				
TMPRSS11F	389208	broad.mit.edu	37	4	68934364	68934364	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:68934364G>A	uc003hdt.1	-	7	776	c.727C>T	c.(727-729)CTG>TTG	p.L243L	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	243	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						GCTGTGAGCAGCCATGTGTTA	0.527		NaN											0	0	0	0.008291	0	9	76				
G3BP2	9908	broad.mit.edu	37	4	76579204	76579204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:76579204G>A	uc003hir.2	-	8	953	c.788C>T	c.(787-789)TCT>TTT	p.S263F	G3BP2_uc003his.2_Missense_Mutation_p.S263F|G3BP2_uc003hit.2_Intron	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	263					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGAATTCCAGAGGAAGAAAC	0.423		NaN											0	0	0	0.008291	0	10	21				
FRAS1	80144	broad.mit.edu	37	4	79199890	79199890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79199890G>A	uc003hlb.2	+	10	1503	c.1063G>A	c.(1063-1065)GGA>AGA	p.G355R	FRAS1_uc003hkw.2_Missense_Mutation_p.G355R|FRAS1_uc003hky.1_Missense_Mutation_p.G59R|FRAS1_uc003hkz.2_Missense_Mutation_p.G59R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	355	VWFC 6.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGAAGAAACTGGAGAATTTGT	0.328		NaN											0	0	0	0.004007	0	17	43				
FRAS1	80144	broad.mit.edu	37	4	79238534	79238534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79238534C>G	uc003hlb.2	+	17	2272	c.1832C>G	c.(1831-1833)TCA>TGA	p.S611*	FRAS1_uc003hkw.2_Nonsense_Mutation_p.S611*|FRAS1_uc003hky.1_Nonsense_Mutation_p.S315*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.S315*|FRAS1_uc003hla.1_Nonsense_Mutation_p.S122*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	611	FU 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TGTCATAACTCATGTGCCAGC	0.607		NaN											0	0	0	0.00499	0	16	83				
PTPN13	5783	broad.mit.edu	37	4	87691109	87691109	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:87691109A>G	uc003hpz.2	+	29	5157	c.4677A>G	c.(4675-4677)GGA>GGG	p.G1559G	PTPN13_uc003hpy.2_Silent_p.G1564G|PTPN13_uc003hqa.2_Silent_p.G1540G|PTPN13_uc003hqb.2_Silent_p.G1368G|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1559	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGTGAATGGAGCCTCTTTGA	0.408		NaN											0	0	0	0.00499	0	17	116				
DSPP	1834	broad.mit.edu	37	4	88535250	88535250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:88535250C>T	uc003hqu.2	+	5	1556	c.1436C>T	c.(1435-1437)TCA>TTA	p.S479L		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	479	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GATGCTAATTCAGAAAGTGAC	0.378		NaN											0	0	0	0.00278	0	23	72				
PPP3CA	5530	broad.mit.edu	37	4	102117268	102117268	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:102117268G>T	uc011cen.1	-	2	739	c.64C>A	c.(64-66)CCA>ACA	p.P22T	PPP3CA_uc003hvu.2_Missense_Mutation_p.P22T|PPP3CA_uc010ilj.2_Missense_Mutation_p.P22T|PPP3CA_uc003hvt.2_Missense_Mutation_p.P9T|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Missense_Mutation_p.P22T	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	22	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGAGGAAATGGAACAGCTGAA	0.383		NaN											1	0	0.00010058	0.013537	0.000102559	13	47				
AIMP1	9255	broad.mit.edu	37	4	107249297	107249297	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:107249297G>A	uc011cfg.1	+	4	340	c.288G>A	c.(286-288)GTG>GTA	p.V96V	AIMP1_uc003hyg.2_Silent_p.V96V|AIMP1_uc003hyh.2_Silent_p.V120V	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN	small inducible cytokine subfamily E, member 1	96	Interaction with HSP90B1 (By similarity).				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding				0						CTGAAAATGTGATACAGTCTA	0.363		NaN											0	0	0	0.012319	0	22	65				
ENPEP	2028	broad.mit.edu	37	4	111397820	111397820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:111397820G>A	uc003iab.3	+	1	592	c.250G>A	c.(250-252)GAG>AAG	p.E84K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	84	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGAGGATGAGAGCGGACA	0.637		NaN											0	0	0	0.003954	0	26	51				
NDST4	64579	broad.mit.edu	37	4	115858492	115858492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:115858492G>A	uc003ibu.2	-	5	2068	c.1389C>T	c.(1387-1389)TTC>TTT	p.F463F	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	463	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTGTGAATGAAGCCCTTTC	0.438		NaN											0	0	0	0.014323	0	21	72				
TRPC3	7222	broad.mit.edu	37	4	122853440	122853440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:122853440C>T	uc003ieg.2	-	2	1047	c.973G>A	c.(973-975)GAG>AAG	p.E325K	TRPC3_uc010inr.2_Missense_Mutation_p.E252K|TRPC3_uc003ief.2_Missense_Mutation_p.E252K|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	240	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AACTCCTTCTCTATGTTGGCC	0.627		NaN											0	0	0	0.008291	0	10	31				
NAA15	80155	broad.mit.edu	37	4	140275244	140275244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:140275244A>G	uc003ihu.1	+	10	1335	c.1079A>G	c.(1078-1080)AAC>AGC	p.N360S		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	360					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						CGGTTATTTAACCCCAATGGT	0.318		NaN											0	0	0	0.007413	0	19	104				
NR3C2	4306	broad.mit.edu	37	4	149073701	149073701	+	Missense_Mutation	SNP	G	G	A	rs41511344		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:149073701G>A	uc003ilj.3	-	6	2763	c.2429C>T	c.(2428-2430)TCA>TTA	p.S810L	NR3C2_uc003ilk.3_Missense_Mutation_p.S693L|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	810	Steroid-binding.			S->M: Alters receptor specificity.	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCAAATGATGATAGACACAT	0.353		NaN											0	0	0	0.003163	0	15	59				
FGA	2243	broad.mit.edu	37	4	155507934	155507934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:155507934C>T	uc003iod.1	-	5	705	c.647G>A	c.(646-648)AGA>AAA	p.R216K	FGA_uc003ioe.1_Missense_Mutation_p.R216K|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	216	By similarity.			SR -> RS (in Ref. 9; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGCCTATCTCTAGAGGGAAG	0.448		NaN											0	0	0	0.009535	0	30	119				
HMGB2	3148	broad.mit.edu	37	4	174254236	174254236	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:174254236C>A	uc011ckc.1	-	2	400	c.280G>T	c.(280-282)GCT>TCT	p.A94S	HMGB2_uc003ita.3_Missense_Mutation_p.A94S|HMGB2_uc003itb.2_Missense_Mutation_p.A94S|HMGB2_uc003itc.2_Missense_Mutation_p.A94S	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	94					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTTAGGAGCATTGGGGTCC	0.403		NaN											1	0	6.34439e-16	0.01441	6.63825e-16	46	250				
PDLIM3	27295	broad.mit.edu	37	4	186429463	186429463	+	Missense_Mutation	SNP	G	G	A	rs150809809		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:186429463G>A	uc003ixw.3	-	5	776	c.652C>T	c.(652-654)CCT>TCT	p.P218S	PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	218						sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTCATCAAAGGTGTTTCCCCT	0.403		NaN											0	0	0	0.009718	0	39	151				
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:13841027G>C	uc003jfd.2	-	34	5739	c.5697C>G	c.(5695-5697)ATC>ATG	p.I1899M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1899	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGTCATCAAAGATATCCCTTT	0.383		NaN							Kartagener_syndrome				0	0	0	0.008871	0	19	106				
TRIO	7204	broad.mit.edu	37	5	14389431	14389431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:14389431G>A	uc003jff.2	+	25	3988	c.3982G>A	c.(3982-3984)GAG>AAG	p.E1328K	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1279K|TRIO_uc003jfh.1_Missense_Mutation_p.E977K	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1328	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGGCGTGGAAGAGATTCCACC	0.413		NaN											0	0	0	0.003163	0	12	30				
FBXL7	23194	broad.mit.edu	37	5	15928098	15928098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:15928098C>T	uc003jfn.1	+	3	708	c.227C>T	c.(226-228)TCC>TTC	p.S76F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	76					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCGTCCACCTCCTCGTCCTCC	0.657		NaN											0	0	0	0.00245	0	14	35				
MYO10	4651	broad.mit.edu	37	5	16781865	16781865	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:16781865G>C	uc003jft.3	-	6	1144	c.676C>G	c.(676-678)CAG>GAG	p.Q226E	MYO10_uc003jfu.2_Missense_Mutation_p.Q193E	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	226	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						ATGTTCAGCTGAACAAACTTC	0.423		NaN											0	0	0	0.00245	0	14	95				
MTMR12	54545	broad.mit.edu	37	5	32233926	32233926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:32233926C>A	uc003jhq.2	-	15	1797	c.1627G>T	c.(1627-1629)GAA>TAA	p.E543*	MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	543	Myotubularin phosphatase.|Interaction with MTM1.					cytoplasm	phosphatase activity			ovary(1)	1						TTTGGCTTTTCCACATAAAGA	0.493		NaN											1	0	1.60974e-12	0.01441	1.67832e-12	52	126				
ADAMTS12	81792	broad.mit.edu	37	5	33891861	33891861	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:33891861G>A	uc003jia.1	-	1	264	c.101C>T	c.(100-102)CCG>CTG	p.P34L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P34L|ADAMTS12_uc003jib.1_Missense_Mutation_p.P34L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	34					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GAAGCGAACCGGGCCTGGCTG	0.527		NaN								HNSCC(64;0.19)			0	0	0	0.01441	0	42	133				
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:34867123G>A	uc003jiu.2	+	7	892	c.789G>A	c.(787-789)CAG>CAA	p.Q263Q	TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263	Potential.						binding			central_nervous_system(1)	1						AAGCTGCTCAGATAGAGCAGC	0.547		NaN											0	0	0	0.001168	0	5	17				
RANBP3L	202151	broad.mit.edu	37	5	36265572	36265572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:36265572C>T	uc003jkh.2	-	5	812	c.319G>A	c.(319-321)GAT>AAT	p.D107N	RANBP3L_uc011cow.1_Missense_Mutation_p.D132N	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	107					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTCTTTATATCAACACTACTT	0.308		NaN											0	0	0	0.013726	0	32	101				
TTC33	23548	broad.mit.edu	37	5	40730373	40730373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:40730373C>T	uc003jma.2	-	3	442	c.294G>A	c.(292-294)ATG>ATA	p.M98I	TTC33_uc011cpm.1_Intron|TTC33_uc010ivg.2_Intron	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	98	TPR 2.						binding			ovary(1)	1						CCTGTGATTTCATCTCGTATA	0.368		NaN											0	0	0	0.01441	0	46	119				
HCN1	348980	broad.mit.edu	37	5	45462008	45462008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:45462008G>A	uc003jok.2	-	3	976	c.951C>T	c.(949-951)TTC>TTT	p.F317F		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	317	Helical; Name=Segment S5; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GTGGTACTAAGAACTGAAGAC	0.423		NaN											0	0	0	0.004007	0	16	64				
AP3B1	8546	broad.mit.edu	37	5	77406125	77406125	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:77406125G>C	uc003kfj.2	-	20	2428	c.2303C>G	c.(2302-2304)TCA>TGA	p.S768*		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	768	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCGTCATTTGAAGAATCTGA	0.328		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.00308	0	8	38				
MTX3	345778	broad.mit.edu	37	5	79284998	79284998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:79284998C>T	uc010jag.2	-	4	325	c.298G>A	c.(298-300)GAA>AAA	p.E100K	MTX3_uc010jah.2_Missense_Mutation_p.E100K|MTX3_uc003kge.3_Missense_Mutation_p.E39K|MTX3_uc003kgf.1_5'Flank	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	100					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGCTTCTCTTCGAGGAGAGCA	0.338		NaN											0	0	0	0.006214	0	8	14				
GPR98	84059	broad.mit.edu	37	5	90052949	90052949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:90052949C>T	uc003kju.2	+	57	12007	c.11911C>T	c.(11911-11913)CAT>TAT	p.H3971Y	GPR98_uc003kjt.2_Missense_Mutation_p.H1677Y|GPR98_uc003kjv.2_Missense_Mutation_p.H1571Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3971	Calx-beta 26.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAAACCATCTCATGGGATTCT	0.423		NaN											0	0	0	0.012319	0	22	49				
FAM81B	153643	broad.mit.edu	37	5	94728542	94728542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:94728542G>A	uc003kla.1	+	2	215	c.169G>A	c.(169-171)GAA>AAA	p.E57K	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	57										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GACTGCAGAGGAACAGCCAGT	0.403		NaN											0	0	0	0.006122	0	13	21				
GIN1	54826	broad.mit.edu	37	5	102442447	102442447	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:102442447T>C	uc003koa.1	-	3	388	c.306A>G	c.(304-306)ACA>ACG	p.T102T	GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Silent_p.T102T	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	102					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGGTCACAGATGTCCAATAAT	0.338		NaN											0	0	0	0.00499	0	17	35				
C5orf48	389320	broad.mit.edu	37	5	125968328	125968328	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:125968328C>T	uc003kub.1	+	2	190	c.177C>T	c.(175-177)TTC>TTT	p.F59F		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	59										ovary(1)	1						ACATGATATTCAGGAATGTGA	0.289		NaN											0	0	0	0.001855	0	14	47				
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131895051G>A	uc003kxi.2	+	2	592	c.205G>A	c.(205-207)GAT>AAT	p.D69N	RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	69					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.214		NaN						Homologous_recombination					0	0	0	0.012319	0	22	81				
CATSPER3	347732	broad.mit.edu	37	5	134332199	134332199	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134332199C>T	uc003lag.2	+	3	557	c.489C>T	c.(487-489)ATC>ATT	p.I163I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	163	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGGGCATCCGGGTGAGTG	0.547		NaN											0	0	0	0.010504	0	17	66				
H2AFY	9555	broad.mit.edu	37	5	134705752	134705752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134705752C>T	uc003lam.1	-	3	463	c.253G>A	c.(253-255)GTG>ATG	p.V85M	H2AFY_uc003lao.1_Missense_Mutation_p.V85M|H2AFY_uc003lan.1_Missense_Mutation_p.V85M|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.V85M|H2AFY_uc003lat.1_Missense_Mutation_p.V85M	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	85	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGGCCACAGCCAGCAGG	0.562		NaN											0	0	0	0.009096	0	3	29				
MYOT	9499	broad.mit.edu	37	5	137219160	137219160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137219160G>C	uc011cye.1	+	7	921	c.904G>C	c.(904-906)GAG>CAG	p.E302Q	MYOT_uc003lbv.2_Missense_Mutation_p.E302Q|MYOT_uc011cyg.1_Missense_Mutation_p.E118Q|MYOT_uc011cyh.1_Missense_Mutation_p.E187Q	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	302	Necessary for interaction with ACTA1.|Ig-like C2-type 1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATAGTGTCTGAGAAGGGTCT	0.433		NaN											0	0	0	0.00333	0	25	88				
KDM3B	51780	broad.mit.edu	37	5	137763715	137763715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137763715G>C	uc003lcy.1	+	20	4893	c.4693G>C	c.(4693-4695)GAT>CAT	p.D1565H	KDM3B_uc010jew.1_Missense_Mutation_p.D1221H|KDM3B_uc011cys.1_Missense_Mutation_p.D597H	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1565	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AGATGTGTCTGATGCTGTTAA	0.428		NaN											0	0	0	0.01441	0	67	277				
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140559208G>C	uc011dai.1	+	1	1779	c.1593G>C	c.(1591-1593)CGG>CGC	p.R531R	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	531	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672		NaN											0	0	0	0.004007	0	11	108				
PCDHB16	57717	broad.mit.edu	37	5	140563854	140563854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140563854G>A	uc003liv.2	+	1	2875	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	574	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCACTGAGCTGGTGCC	0.692		NaN											0	0	0	0.006214	0	9	32				
PCDHB10	56126	broad.mit.edu	37	5	140573268	140573268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140573268G>A	uc003lix.2	+	1	1317	c.1143G>A	c.(1141-1143)ATG>ATA	p.M381I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	381	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAAAGATGGTTTGCTACA	0.418		NaN											0	0	0	0.00499	0	18	56				
PCDHGC5	56097	broad.mit.edu	37	5	140870243	140870243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140870243C>T	uc003lla.1	+	1	1436	c.1436C>T	c.(1435-1437)TCA>TTA	p.S479L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S479L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	479	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTGCCTCAGATCCAGAC	0.542		NaN											0	0	0	0.013726	0	33	116				
FBXO38	81545	broad.mit.edu	37	5	147807414	147807414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:147807414G>A	uc003lpf.1	+	15	2677	c.2557G>A	c.(2557-2559)GAG>AAG	p.E853K	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	853						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGCCTGAGAGTTGTGA	0.582		NaN											0	0	0	0.001168	0	6	31				
CSF1R	1436	broad.mit.edu	37	5	149449619	149449619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:149449619C>T	uc003lrl.2	-	9	1522	c.1327G>A	c.(1327-1329)GAG>AAG	p.E443K	CSF1R_uc011dcd.1_Missense_Mutation_p.E295K|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.E443K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	443	Ig-like C2-type 5.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACTTGGGCCTCATCACACCTG	0.617		NaN											0	0	0	0.004482	0	8	36				
FAM114A2	10827	broad.mit.edu	37	5	153407773	153407773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:153407773G>A	uc003lvb.2	-	6	1154	c.566C>T	c.(565-567)GCA>GTA	p.A189V	FAM114A2_uc003lvc.2_Missense_Mutation_p.A189V|FAM114A2_uc003lvd.2_Missense_Mutation_p.A189V|FAM114A2_uc003lve.2_Missense_Mutation_p.A5V|FAM114A2_uc011dda.1_Missense_Mutation_p.A119V	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	189							purine nucleotide binding				0						ATCCCCTTCTGCTATCACATC	0.393		NaN											0	0	0	0.004878	0	36	88				
ADAM19	8728	broad.mit.edu	37	5	156932736	156932736	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:156932736A>G	uc003lwz.2	-	11	1135	c.1071T>C	c.(1069-1071)TCT>TCC	p.S357S	ADAM19_uc003lww.1_Silent_p.S90S|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Silent_p.S288S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	357	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCAATCTGCAGAATCATGGG	0.602		NaN											0	0	0	0.001984	0	6	18				
SOX30	11063	broad.mit.edu	37	5	157078609	157078609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157078609G>A	uc003lxb.1	-	1	820	c.478C>T	c.(478-480)CCT>TCT	p.P160S	SOX30_uc003lxc.1_Missense_Mutation_p.P160S|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	160					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGCTCTAGGACCGGTTTCG	0.677		NaN											0	0	0	0.001168	0	5	27				
CLINT1	9685	broad.mit.edu	37	5	157218935	157218935	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157218935C>T	uc003lxj.1	-	10	1346	c.1156G>A	c.(1156-1158)GTT>ATT	p.V386I	CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.V368I|CLINT1_uc011ddv.1_Missense_Mutation_p.V386I	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	386					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAAGCAACAGGGCCTGAT	0.512		NaN											0	0	0	0.008291	0	8	46				
GABRB2	2561	broad.mit.edu	37	5	160761889	160761889	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:160761889G>T	uc003lys.1	-	8	920	c.702C>A	c.(700-702)CTC>CTA	p.L234L	GABRB2_uc011deh.1_Silent_p.L73L|GABRB2_uc003lyr.1_Silent_p.L234L|GABRB2_uc003lyt.1_Silent_p.L234L|GABRB2_uc010jiu.1_Silent_p.L171L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	234	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCTTAAAGCTGAGGGATAACC	0.368		NaN											1	0	1.02788e-11	0.00499	1.06788e-11	16	54				
PANK3	79646	broad.mit.edu	37	5	167993164	167993164	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:167993164A>G	uc003lzz.1	-	3	789	c.489T>C	c.(487-489)TTT>TTC	p.F163F		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	163					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AGGCATTAGCAAAATAATAGC	0.448		NaN											0	0	0	0.00632	0	28	155				
CDHR2	54825	broad.mit.edu	37	5	176005373	176005373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:176005373C>T	uc003mem.1	+	16	1648	c.1582C>T	c.(1582-1584)CTC>TTC	p.L528F	CDHR2_uc003men.1_Missense_Mutation_p.L528F	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	528	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAGGGCAGACCTCTTCCAAGT	0.388		NaN											0	0	0	0.000602	0	4	8				
CAGE1	285782	broad.mit.edu	37	6	7373335	7373335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7373335C>G	uc003mxi.2	-	4	2030	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.E328Q|CAGE1_uc003mxk.1_Missense_Mutation_p.E328Q	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	573											0	Ovarian(93;0.0418)					AAGACTTCCTCTAATTGATCC	0.348		NaN											0	0	0	0.001984	0	7	59				
DSP	1832	broad.mit.edu	37	6	7580702	7580702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7580702G>A	uc003mxp.1	+	23	4558	c.4279G>A	c.(4279-4281)GAA>AAA	p.E1427K	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1427	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGAGGGTGGAAGAAGACAT	0.483		NaN											0	0	0	0.010729	0	11	58				
DSP	1832	broad.mit.edu	37	6	7581076	7581076	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7581076G>A	uc003mxp.1	+	23	4932	c.4653G>A	c.(4651-4653)GTG>GTA	p.V1551V	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1551	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAGGACTGTGAAGGACCAGG	0.522		NaN											0	0	0	0.01441	0	47	80				
TXNDC5	81567	broad.mit.edu	37	6	8064557	8064557	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:8064557C>T	uc003mxw.2	-	1	91	c.-197G>A	c.(-199--195)CGGTG>CGATG		MUTED_uc003mxy.2_Missense_Mutation_p.G18D|MUTED_uc010joc.2_Translation_Start_Site|MUTED_uc010job.2_RNA	NM_001145549	NP_001139021	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 3						anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					CTTGCTGCCACCGCCCGGGGC	0.667		NaN											0	0	0	0.00308	0	8	19				
SYCP2L	221711	broad.mit.edu	37	6	10913109	10913109	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:10913109T>C	uc003mzo.2	+	14	1317	c.1021T>C	c.(1021-1023)TGG>CGG	p.W341R	SYCP2L_uc011din.1_Missense_Mutation_p.W182R|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	341						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAATACTCTATGGGACTCAGT	0.348		NaN											0	0	0	0.00632	0	29	53				
NHLRC1	378884	broad.mit.edu	37	6	18122174	18122174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122174C>G	uc003ncl.1	-	1	678	c.664G>C	c.(664-666)GAG>CAG	p.E222Q		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	222	NHL 3.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGTGGTCTCCACACCCCAA	0.552		NaN											0	0	0	0.010729	0	12	22				
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122786C>A	uc003ncl.1	-	1	66	c.52G>T	c.(52-54)GAG>TAG	p.E18*		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711		NaN											1	0	0.00909568	0.009096	0.00917903	4	17				
BTN3A3	10384	broad.mit.edu	37	6	26446154	26446154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26446154C>T	uc003nhz.2	+	5	836	c.656C>T	c.(655-657)TCC>TTC	p.S219F	BTN3A3_uc003nia.2_Missense_Mutation_p.S177F|BTN3A3_uc011dkn.1_Missense_Mutation_p.S177F	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	219	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane					0						GGGGGTGTATCCTGCATCATC	0.552		NaN											0	0	0	0.01441	0	54	81				
BTN2A1	11120	broad.mit.edu	37	6	26459743	26459743	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26459743C>T	uc003nib.1	+	3	329	c.117C>T	c.(115-117)ATC>ATT	p.I39I	BTN2A1_uc003nic.1_Silent_p.I39I|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	39	Extracellular (Potential).|Ig-like V-type.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						CTGATCCCATCTTGGCCACGG	0.522		NaN											0	0	0	0.00308	0	8	41				
BTN1A1	696	broad.mit.edu	37	6	26501556	26501556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26501556C>T	uc003nif.3	+	1	62	c.42C>T	c.(40-42)CTC>CTT	p.L14L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	14						extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						GATGTCTGCTCACCCTCATTC	0.483		NaN											0	0	0	0.00278	0	21	67				
HIST1H4I	8294	broad.mit.edu	37	6	27107327	27107327	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27107327G>A	uc003niy.1	+	1	240	c.240G>A	c.(238-240)AAG>AAA	p.K80K	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	80					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CCAAGCGCAAGACGGTCACCG	0.597		NaN	T	BCL6	NHL								0	0	0	0.004482	0	7	44				
HIST1H2AL	8332	broad.mit.edu	37	6	27833492	27833492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27833492G>A	uc003njw.2	+	1	386	c.360G>A	c.(358-360)AAG>AAA	p.K120K		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	120					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						TGCCCAAGAAGACCGAGAGTC	0.522		NaN											0	0	0	0.014323	0	19	88				
ZNF165	7718	broad.mit.edu	37	6	28056944	28056944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:28056944C>T	uc003nkg.2	+	5	2238	c.1154C>T	c.(1153-1155)TCA>TTA	p.S385L	ZNF165_uc003nkh.2_Missense_Mutation_p.S385L|ZNF165_uc003nki.3_Missense_Mutation_p.S385L|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	385	C2H2-type 3.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCAGAGAGCTCAGATCTTACT	0.453		NaN											0	0	0	0.008871	0	20	64				
TRIM10	10107	broad.mit.edu	37	6	30126201	30126201	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30126201T>C	uc003npo.3	-	3	807	c.731A>G	c.(730-732)GAG>GGG	p.E244G	TRIM10_uc003npn.2_Missense_Mutation_p.E244G	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	244						cytoplasm	zinc ion binding				0						TGCTGGCCTCTCATTCTTCTC	0.537		NaN											0	0	0	0.006999	0	41	219				
MDC1	9656	broad.mit.edu	37	6	30681764	30681764	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30681764C>T	uc003nrg.3	-	3	773	c.333G>A	c.(331-333)GTG>GTA	p.V111V	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Silent_p.V111V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	111	Interaction with the MRN complex.|Interaction with CHEK2.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GACGGTGACTCACCCCAGGGC	0.542		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.00499	0	18	75				
CSNK2B	1460	broad.mit.edu	37	6	31635725	31635725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:31635725C>G	uc003nvr.1	+	3	493	c.153C>G	c.(151-153)GAC>GAG	p.D51E	BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.D51E|CSNK2B_uc003nvs.1_Missense_Mutation_p.D51E	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	51					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						AAGCTCTAGACATGATCTTGG	0.463		NaN											0	0	0	0.008871	0	21	63				
EGFL8	80864	broad.mit.edu	37	6	32134565	32134565	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:32134565C>T	uc003oab.1	+	4	370	c.312C>T	c.(310-312)CAC>CAT	p.H104H	PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Silent_p.H104H	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	NG3 protein precursor	104	EMI.					extracellular region|integral to membrane	calcium ion binding				0						AGAAGCGGCACCCGGGGGCGC	0.667		NaN											0	0	0	0.010729	0	10	31				
RPS18	6222	broad.mit.edu	37	6	33244172	33244172	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33244172C>T	uc003odp.1	+	6	433	c.388C>T	c.(388-390)CGT>TGT	p.R130C	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	130					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						CTGCAGCCTTCGTGTCCGAGG	0.512		NaN											0	0	0	0.009096	0	4	27				
ZBTB22	9278	broad.mit.edu	37	6	33283235	33283235	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33283235G>A	uc003oeb.2	-	2	1611	c.1459C>T	c.(1459-1461)CTG>TTG	p.L487L	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L487L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	487	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAATGGCACAGAAAGATCTTA	0.627		NaN											0	0	0	0.004289	0	38	141				
ZBTB22	9278	broad.mit.edu	37	6	33284430	33284430	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33284430G>C	uc003oeb.2	-	2	416	c.264C>G	c.(262-264)CTC>CTG	p.L88L	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L88L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	88	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCATGCCTTTGAGTAGGACCT	0.602		NaN											0	0	0	0.004656	0	24	155				
DAXX	1616	broad.mit.edu	37	6	33287200	33287200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33287200G>A	uc003oec.2	-	6	2101	c.1897C>T	c.(1897-1899)CGG>TGG	p.R633W	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.R558W|DAXX_uc011dre.1_Missense_Mutation_p.R645W|DAXX_uc003oed.2_Missense_Mutation_p.R633W	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	633	Nuclear localization signal (Potential).|Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TTCTCCTTCCGAGATTTTTTG	0.507		NaN	Mis|F|N		Pancreatic neuroendocrine tumors								0	0	0	0.01441	0	47	225				
CUTA	51596	broad.mit.edu	37	6	33385311	33385311	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33385311G>A	uc003oej.1	-	2	492	c.204C>T	c.(202-204)GTC>GTT	p.V68V	CUTA_uc003oek.1_Silent_p.V45V|CUTA_uc003oel.1_Silent_p.V45V|CUTA_uc003oem.1_Silent_p.V45V|CUTA_uc003oen.1_Silent_p.V87V|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank	NM_001014840	NP_001014840	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog isoform	68					protein localization|response to metal ion	membrane	enzyme binding				0						AGGCTGCAGAGACCGAGCCCG	0.612		NaN											0	0	0	0.004289	0	34	86				
SCUBE3	222663	broad.mit.edu	37	6	35213121	35213121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:35213121C>T	uc003okf.1	+	19	2524	c.2518C>T	c.(2518-2520)CGC>TGC	p.R840C	SCUBE3_uc003okg.1_Missense_Mutation_p.R839C|SCUBE3_uc003okh.1_Missense_Mutation_p.R727C	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	840	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CCCACCCAAGCGCAAGATCCT	0.557		NaN											0	0	0	0.008871	0	20	83				
LRFN2	57497	broad.mit.edu	37	6	40400146	40400146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:40400146G>A	uc003oph.1	-	2	1172	c.707C>T	c.(706-708)TCC>TTC	p.S236F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	236	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAACTAAAGGACAAGGGTGG	0.597		NaN											0	0	0	0.004007	0	9	35				
NCR2	9436	broad.mit.edu	37	6	41303625	41303625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:41303625G>A	uc003oqh.2	+	1	98	c.11G>A	c.(10-12)CGA>CAA	p.R4Q	NCR2_uc003oqi.2_Missense_Mutation_p.R4Q|NCR2_uc003oqj.2_Missense_Mutation_p.R4Q	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	4					cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATGGCCTGGCGAGCCCTACAC	0.622		NaN											0	0	0	0.004672	0	3	4				
NFKBIE	4794	broad.mit.edu	37	6	44227792	44227792	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:44227792G>T	uc003oxe.1	-	5	1450	c.1425C>A	c.(1423-1425)GAC>GAA	p.D475E	SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank	NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	475					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCAGTCAGGTCCTGGGGCG	0.517		NaN											1	0	3.07112e-06	0.010729	3.14246e-06	12	51				
TDRD6	221400	broad.mit.edu	37	6	46658620	46658620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46658620G>T	uc003oyj.2	+	1	2755	c.2755G>T	c.(2755-2757)GAA>TAA	p.E919*	TDRD6_uc010jze.2_Nonsense_Mutation_p.E913*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	919					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAAAAATCTAGAATTAAAATG	0.338		NaN											1	0	3.8784e-16	0.012319	4.06287e-16	20	155				
MEP1A	4224	broad.mit.edu	37	6	46794205	46794205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46794205G>A	uc010jzh.1	+	9	935	c.893G>A	c.(892-894)GGA>GAA	p.G298E	MEP1A_uc011dwg.1_Missense_Mutation_p.G20E|MEP1A_uc011dwh.1_Missense_Mutation_p.G326E|MEP1A_uc011dwi.1_Missense_Mutation_p.G198E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	298	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GCTCAGGCTGGAGAAGTGGAT	0.488		NaN											0	0	0	0.01441	0	48	81				
PKHD1	5314	broad.mit.edu	37	6	51908451	51908451	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:51908451G>A	uc003pah.1	-	26	3069	c.2793C>T	c.(2791-2793)CCC>CCT	p.P931P	PKHD1_uc003pai.2_Silent_p.P931P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	931	IPT/TIG 4.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AATGGACACAGGGAGTTGACC	0.473		NaN											0	0	0	0.003755	0	37	34				
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:90604653A>G	uc011eaa.1	+	1	466	c.466A>G	c.(466-468)ACT>GCT	p.T156A		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	156	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438		NaN											0	0	0	0.01441	0	59	83				
EPHA7	2045	broad.mit.edu	37	6	94068097	94068097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:94068097G>A	uc003poe.2	-	4	1106	c.865C>T	c.(865-867)CAA>TAA	p.Q289*	EPHA7_uc003pof.2_Nonsense_Mutation_p.Q289*|EPHA7_uc011eac.1_Nonsense_Mutation_p.Q289*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	289	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAAGATCTTGAGAGGAAGAC	0.413		NaN											0	0	0	0.013537	0	11	25				
FHL5	9457	broad.mit.edu	37	6	97051647	97051647	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:97051647A>T	uc003pos.1	+	3	563	c.158A>T	c.(157-159)AAG>ATG	p.K53M	FHL5_uc003pot.1_Missense_Mutation_p.K53M	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	53	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TCTGATTCTAAGGTAAGTCTC	0.358		NaN											0	0	0	0.00874	0	42	64				
SIM1	6492	broad.mit.edu	37	6	100841697	100841697	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:100841697G>A	uc003pqj.3	-	10	1443	c.1236C>T	c.(1234-1236)ACC>ACT	p.T412T	SIM1_uc010kcu.2_Silent_p.T412T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	412	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGCCGTGTCGGTCAAGGGAC	0.572		NaN											0	0	0	0.014323	0	21	22				
TRAF3IP2	10758	broad.mit.edu	37	6	111913025	111913025	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:111913025C>T	uc011ebc.1	-	3	880	c.265G>A	c.(265-267)GAG>AAG	p.E89K	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E89K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E89K	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	98					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCACTGTCCTCCAGAACTTGA	0.567		NaN											0	0	0	0.004289	0	37	55				
C6orf174	387104	broad.mit.edu	37	6	127797109	127797109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:127797109C>T	uc003qbd.2	-	6	2927	c.2062G>A	c.(2062-2064)GAC>AAC	p.D688N	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	688	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGCGCGCTGTCGTGGCCGCCG	0.652		NaN											0	0	0	0.003954	0	22	37				
MYB	4602	broad.mit.edu	37	6	135521495	135521495	+	Missense_Mutation	SNP	G	G	A	rs113182184	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:135521495G>A	uc003qfc.2	+	12	1728	c.1529G>A	c.(1528-1530)GGA>GAA	p.G510E	MYB_uc003qfh.2_Missense_Mutation_p.G631E|MYB_uc003qfi.2_Missense_Mutation_p.G615E|MYB_uc010kgi.2_Missense_Mutation_p.G510E|MYB_uc003qfq.2_Missense_Mutation_p.G628E|MYB_uc010kgj.2_Missense_Mutation_p.G475E|MYB_uc003qfo.2_Missense_Mutation_p.G425E|MYB_uc003qfu.2_Missense_Mutation_p.G507E|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.G136E|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.G322E|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G510E	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	510					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGAATCTGGAATTGTTGCT	0.428		NaN	T	NFIB	adenoid cystic carcinoma								0	0	0	0.00874	0	45	50				
PDE7B	27115	broad.mit.edu	37	6	136502427	136502427	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:136502427G>C	uc003qgp.2	+	11	1314	c.1011G>C	c.(1009-1011)TGG>TGC	p.W337C	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.W389C	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	337	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCAAGCAGTGGAGTGAAAGGG	0.438		NaN											0	0	0	0.004656	0	25	119				
GPR126	57211	broad.mit.edu	37	6	142691518	142691518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:142691518G>C	uc010khc.2	+	4	1068	c.657G>C	c.(655-657)AAG>AAC	p.K219N	GPR126_uc010khd.2_Missense_Mutation_p.K219N|GPR126_uc010khe.2_Missense_Mutation_p.K219N|GPR126_uc010khf.2_Missense_Mutation_p.K219N|GPR126_uc003qix.2_Missense_Mutation_p.K219N	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	219	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAAGGCCAAGAGTGGCTACT	0.388		NaN											0	0	0	0.013537	0	11	31				
PPIL4	85313	broad.mit.edu	37	6	149856762	149856762	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:149856762T>C	uc003qmo.1	-	5	464	c.434A>G	c.(433-435)GAC>GGC	p.D145G	PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.D145G	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	145	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AAAGTCCTTGTCAACAAAGGT	0.353		NaN											0	0	0	0.004878	0	38	77				
ARID1B	57492	broad.mit.edu	37	6	157502230	157502230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:157502230C>T	uc003qqn.2	+	12	3361	c.3209C>T	c.(3208-3210)TCA>TTA	p.S1070L	ARID1B_uc003qqo.2_Missense_Mutation_p.S1030L|ARID1B_uc003qqp.2_Missense_Mutation_p.S1017L|ARID1B_uc010kjl.2_Missense_Mutation_p.S215L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1075	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTCCTGTCTCAAGTCTGCCT	0.562		NaN											0	0	0	0.010504	0	19	21		Valid		
SYNJ2	8871	broad.mit.edu	37	6	158499228	158499228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:158499228G>C	uc003qqx.1	+	18	2557	c.2482G>C	c.(2482-2484)GAT>CAT	p.D828H	SYNJ2_uc003qqw.1_Missense_Mutation_p.D828H|SYNJ2_uc003qqy.1_Missense_Mutation_p.D541H|SYNJ2_uc003qqz.1_Missense_Mutation_p.D445H|SYNJ2_uc003qra.1_Missense_Mutation_p.D171H	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	828	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTGATCTAGATGTTGACAC	0.493		NaN											0	0	0	0.010504	0	21	103				
THBS2	7058	broad.mit.edu	37	6	169648940	169648940	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:169648940C>T	uc003qwt.2	-	4	429	c.181G>A	c.(181-183)GAC>AAC	p.D61N		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	61	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGATGTAGTCAAAGCGCACG	0.602		NaN											0	0	0	0.008871	0	20	26				
LFNG	3955	broad.mit.edu	37	7	2565141	2565141	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:2565141C>T	uc003smf.2	+	4	692	c.675C>T	c.(673-675)GTC>GTT	p.V225V	LFNG_uc003smg.2_Silent_p.V225V	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	lunatic fringe isoform a	225	Lumenal (Potential).				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		ACGTCTACGTCGGCAAGCCCA	0.677		NaN											0	0	0	0.004482	0	8	14				
PMS2	5395	broad.mit.edu	37	7	6027006	6027006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:6027006C>T	uc003spl.2	-	11	1477	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N	PMS2_uc003spj.2_Missense_Mutation_p.D358N|PMS2_uc003spk.2_Missense_Mutation_p.D329N|PMS2_uc011jwl.1_Missense_Mutation_p.D329N|PMS2_uc010ktg.2_Missense_Mutation_p.D153N|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.D464N	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	464					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACGCCTTTGTCAGAGATGGCA	0.562		NaN	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.00874	0	45	111				
BZW2	28969	broad.mit.edu	37	7	16714045	16714045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:16714045G>C	uc003stl.2	+	3	245	c.67G>C	c.(67-69)GAG>CAG	p.E23Q	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Missense_Mutation_p.E23Q|BZW2_uc003stk.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.E23Q|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Missense_Mutation_p.E23Q	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	23					cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGATGAAAAAGAGAAATTCGA	0.328		NaN											0	0	0	0.007413	0	18	122				
C7orf46	340277	broad.mit.edu	37	7	23731113	23731113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:23731113G>A	uc003swo.3	+	4	624	c.535G>A	c.(535-537)GAA>AAA	p.E179K	C7orf46_uc003swq.3_Missense_Mutation_p.E179K|C7orf46_uc003swr.3_Missense_Mutation_p.E121K|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	179											0						ATTGGCTCAGGAAAAACCAGT	0.493		NaN											0	0	0	0.01441	0	57	137				
TAX1BP1	8887	broad.mit.edu	37	7	27797748	27797748	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:27797748C>T	uc003szl.2	+	3	419	c.261C>T	c.(259-261)TTC>TTT	p.F87F	TAX1BP1_uc011jzo.1_Silent_p.F87F|TAX1BP1_uc003szk.2_Silent_p.F87F|TAX1BP1_uc011jzp.1_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	87					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			TACTAGCATTCCAAGGTAAGG	0.348		NaN											0	0	0	0.008871	0	20	110				
CHN2	1124	broad.mit.edu	37	7	29234571	29234571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:29234571G>A	uc003szz.2	+	1	451	c.14G>A	c.(13-15)AGC>AAC	p.S5N	CHN2_uc011jzs.1_Intron|CHN2_uc010kva.2_Missense_Mutation_p.S5N|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_5'UTR|CHN2_uc011jzt.1_Missense_Mutation_p.S5N|CHN2_uc010kvd.2_Missense_Mutation_p.S5N|CHN2_uc011jzu.1_5'Flank|CPVL_uc003szx.2_Intron	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	5				MAASSN -> MRLL (in Ref. 1; AAA16836/ AAA19191).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						gcagcgTCCAGCAACTCCAGC	0.383		NaN											0	0	0	0.006214	0	7	18				
BMPER	168667	broad.mit.edu	37	7	34125385	34125385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:34125385G>C	uc011kap.1	+	13	1540	c.1426G>C	c.(1426-1428)GAT>CAT	p.D476H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	476	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AATATCTTGGGATGGAGACAG	0.423		NaN											0	0	0	0.00308	0	8	47				
TARP	445347	broad.mit.edu	37	7	38305062	38305062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:38305062G>C	uc003tge.1	-	5	1022	c.645C>G	c.(643-645)AGC>AGG	p.S215R	uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S11R|TARP_uc003tgc.1_Missense_Mutation_p.S11R|TARP_uc003tgd.1_Missense_Mutation_p.S11R|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						CCGTTAACCAGCTAAATTTCA	0.393		NaN											0	0	0	0.01441	0	54	266				
NPC1L1	29881	broad.mit.edu	37	7	44579102	44579102	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:44579102G>A	uc003tlb.2	-	2	950	c.894C>T	c.(892-894)GTC>GTT	p.V298V	NPC1L1_uc003tlc.2_Silent_p.V298V|NPC1L1_uc011kbw.1_Silent_p.V298V|NPC1L1_uc003tld.2_Silent_p.V298V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	298	Helical; Name=1; (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GCAGGATGGTGACCACAGCGA	0.612		NaN											0	0	0	0.007413	0	20	87				
TNS3	64759	broad.mit.edu	37	7	47467943	47467943	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:47467943G>A	uc003tnv.2	-	9	723	c.356C>T	c.(355-357)TCA>TTA	p.S119L	TNS3_uc003tnw.2_Missense_Mutation_p.S119L|TNS3_uc010kyo.1_Missense_Mutation_p.S119L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	119	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						CATGTAGGATGATATGACCAC	0.493		NaN											0	0	0	0.00632	0	25	93				
SUN3	256979	broad.mit.edu	37	7	48046822	48046822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:48046822C>T	uc003tof.2	-	6	529	c.432G>A	c.(430-432)ATG>ATA	p.M144I	SUN3_uc010kyq.2_Missense_Mutation_p.M44I|SUN3_uc003tog.2_Missense_Mutation_p.M144I|SUN3_uc011kcf.1_Missense_Mutation_p.M132I	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	144	Potential.					integral to membrane				central_nervous_system(1)	1						GATTATTGTCCATACCATCCT	0.483		NaN											0	0	0	0.008871	0	21	70				
ZNF713	349075	broad.mit.edu	37	7	56007179	56007179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:56007179C>T	uc003trc.1	+	4	811	c.773C>T	c.(772-774)TCA>TTA	p.S258L	ZNF713_uc003tra.1_Missense_Mutation_p.S271L|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCCACACCTCATCTCTTAGC	0.423		NaN											0	0	0	0.003954	0	24	65				
CLDN4	1364	broad.mit.edu	37	7	73246019	73246019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:73246019C>T	uc003tzi.3	+	1	827	c.488C>T	c.(487-489)TCG>TTG	p.S163L	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	163	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				ATGGGTGCCTCGCTCTACGTC	0.637		NaN											0	0	0	0.006214	0	7	28				
TMEM130	222865	broad.mit.edu	37	7	98460916	98460916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:98460916C>T	uc003upo.2	-	2	382	c.193G>A	c.(193-195)GCT>ACT	p.A65T	TMEM130_uc011kiq.1_Missense_Mutation_p.A46T|TMEM130_uc011kir.1_Missense_Mutation_p.A65T|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	65	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCGTCAGCGGGCAGGGCC	0.642		NaN											0	0	0	0.00308	0	6	11				
SLC26A4	5172	broad.mit.edu	37	7	107342406	107342406	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:107342406C>G	uc003vep.2	+	17	2162	c.1938C>G	c.(1936-1938)GTC>GTG	p.V646V	SLC26A4_uc011kmb.1_Silent_p.V233V|SLC26A4_uc011kmc.1_Silent_p.V207V|SLC26A4_uc011kmd.1_Silent_p.V215V	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	646	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						AGCTTCCAGTCAAAGTGAACG	0.453		NaN							Pendred_syndrome				0	0	0	0.001855	0	14	76				
LRRN3	54674	broad.mit.edu	37	7	110764893	110764893	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:110764893G>C	uc003vft.3	+	4	3111	c.2065G>C	c.(2065-2067)GAA>CAA	p.E689Q	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E689Q|LRRN3_uc003vfs.3_Missense_Mutation_p.E689Q	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	689	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCAGGAAAAGAAAAAAGTAC	0.368		NaN											0	0	0	0.010729	0	11	84				
DOCK4	9732	broad.mit.edu	37	7	111634279	111634279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:111634279C>G	uc003vfx.2	-	5	495	c.226G>C	c.(226-228)GAA>CAA	p.E76Q	DOCK4_uc003vfy.2_Missense_Mutation_p.E76Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.E76Q|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	76					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATAACCATTTCAAATTGTCTG	0.308		NaN											0	0	0	0.014323	0	23	89				
C7orf60	154743	broad.mit.edu	37	7	112579712	112579712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:112579712C>T	uc003vgo.1	-	1	221	c.94G>A	c.(94-96)GAG>AAG	p.E32K	C7orf60_uc011kms.1_Missense_Mutation_p.E32K	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	32										ovary(2)|skin(1)	3						TTCTCCTGCTCCAGTTTCCGC	0.647		NaN											0	0	0	0.001984	0	7	28				
CTTNBP2	83992	broad.mit.edu	37	7	117400556	117400556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:117400556C>T	uc003vjf.2	-	10	3197	c.3105G>A	c.(3103-3105)GTG>GTA	p.V1035V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1035										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TATTGCAAGTCACGTCTTCCA	0.453		NaN											0	0	0	0.008361	0	29	180				
ING3	54556	broad.mit.edu	37	7	120614801	120614801	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:120614801A>C	uc003vjn.2	+	12	1294	c.1160A>C	c.(1159-1161)CAT>CCT	p.H387P	ING3_uc003vjo.2_Missense_Mutation_p.H161P|ING3_uc003vjp.2_3'UTR|ING3_uc011kns.1_Missense_Mutation_p.H372P	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	387	PHD-type.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					GAATGGTTCCATTATGGCTGC	0.413		NaN											0	0	0	0.00308	0	6	53				
PTPRZ1	5803	broad.mit.edu	37	7	121701184	121701184	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:121701184G>T	uc003vjy.2	+	30	7253	c.6858G>T	c.(6856-6858)AGG>AGT	p.R2286S	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R1419S|PTPRZ1_uc011knt.1_Missense_Mutation_p.R876S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2286	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGAGCACAAGGCAGGAAGAGA	0.443		NaN											1	0	8.16277e-20	0.006999	8.5714e-20	41	50				
NDUFA5	4698	broad.mit.edu	37	7	123197496	123197496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:123197496C>T	uc003vks.2	-	2	137	c.28G>A	c.(28-30)GGC>AGC	p.G10S	NDUFA5_uc003vkr.2_RNA|NDUFA5_uc003vkt.1_Missense_Mutation_p.G10S	NM_005000	NP_004991	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	10					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CCCACAAGGCCAGTGGTCTGT	0.438		NaN											0	0	0	0.010729	0	12	44				
SND1	27044	broad.mit.edu	37	7	127344995	127344995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:127344995G>C	uc003vmi.2	+	8	1169	c.943G>C	c.(943-945)GAG>CAG	p.E315Q		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	315	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GAGGGCGGCAGAGAGGTAAGG	0.532		NaN											0	0	0	0.009096	0	4	35				
ZC3HC1	51530	broad.mit.edu	37	7	129691140	129691140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:129691140G>A	uc003vpi.2	-	1	94	c.67C>T	c.(67-69)CGC>TGC	p.R23C		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	23					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					TCTGGGGAGCGAACTACTGCA	0.597		NaN											0	0	0	0.010729	0	12	69				
DGKI	9162	broad.mit.edu	37	7	137075986	137075986	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:137075986C>A	uc003vtt.2	-	34	3179	c.3178G>T	c.(3178-3180)GAC>TAC	p.D1060Y	DGKI_uc003vtu.2_Missense_Mutation_p.D729Y	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1060					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						GTTTCCAGGTCCTCATGGCCA	0.527		NaN											1	0	2.12542e-12	0.00632	2.21335e-12	26	115				
EPHA1	2041	broad.mit.edu	37	7	143095738	143095738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:143095738G>A	uc003wcz.2	-	6	1379	c.1292C>T	c.(1291-1293)TCT>TTT	p.S431F		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	431	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCATGGCCAGAGCTGCCCAG	0.572		NaN											0	0	0	0.006214	0	10	60				
CUL1	8454	broad.mit.edu	37	7	148427336	148427336	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:148427336G>A	uc010lpg.2	+	2	648	c.122G>A	c.(121-123)AGA>AAA	p.R41K	CUL1_uc003wey.2_Missense_Mutation_p.R41K|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCAAGTCCAGATATATGGAG	0.478		NaN											0	0	0	0.00245	0	14	89				
GIMAP8	155038	broad.mit.edu	37	7	150164398	150164398	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:150164398C>T	uc003whj.2	+	2	942	c.612C>T	c.(610-612)TTC>TTT	p.F204F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	204						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTGAACTTCAAAACTGAAG	0.408		NaN											0	0	0	0.008871	0	20	97				
CLN8	2055	broad.mit.edu	37	8	1728467	1728467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1728467C>T	uc003wpo.3	+	3	900	c.595C>T	c.(595-597)CAC>TAC	p.H199Y		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	199	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCTGATGATTCACATGTTTCA	0.517		NaN											0	0	0	0.013537	0	11	72				
ARHGEF10	9639	broad.mit.edu	37	8	1876813	1876813	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1876813G>A	uc003wpr.2	+	24	3096	c.2918G>A	c.(2917-2919)GGA>GAA	p.G973E	ARHGEF10_uc003wps.2_Missense_Mutation_p.G935E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G624E	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	998					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACGGAGGAGGGAAGGTAGGGC	0.617		NaN											0	0	0	0.001984	0	5	37				
DLC1	10395	broad.mit.edu	37	8	12947971	12947971	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:12947971C>T	uc003wwm.2	-	15	4308	c.3864G>A	c.(3862-3864)GAG>GAA	p.E1288E	DLC1_uc003wwk.1_Silent_p.E851E|DLC1_uc003wwl.1_Silent_p.E885E|DLC1_uc011kxx.1_Silent_p.E777E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1288					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGCTCATTTCCTCGGGAACCT	0.517		NaN											0	0	0	0.013537	0	12	47				
PSD3	23362	broad.mit.edu	37	8	18729854	18729854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:18729854C>T	uc003wza.2	-	3	623	c.520G>A	c.(520-522)GAC>AAC	p.D174N		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	174					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGGCAGTGTCCAGCTCTTTT	0.443		NaN											0	0	0	0.009535	0	21	118				
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:19316071G>T	uc011kyn.1	-	5	1781	c.717C>A	c.(715-717)CTC>CTA	p.L239L	CSGALNACT1_uc011kyo.1_Silent_p.L239L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.L238L|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	239	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433		NaN											1	0	1.87469e-40	0.01441	1.99469e-40	61	200				
REEP4	80346	broad.mit.edu	37	8	21997685	21997685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:21997685C>T	uc003xau.1	-	3	635	c.182G>A	c.(181-183)TGG>TAG	p.W61*	REEP4_uc010ltt.1_Nonsense_Mutation_p.W61*|REEP4_uc011kyz.1_Nonsense_Mutation_p.W61*	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	61	Helical; (Potential).					integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GCGTCCATACCAGGAGATAAA	0.577		NaN											0	0	0	0.000602	0	4	15				
EGR3	1960	broad.mit.edu	37	8	22548114	22548114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:22548114C>G	uc003xcm.1	-	2	1394	c.1036G>C	c.(1036-1038)GAC>CAC	p.D346H	EGR3_uc011kzn.1_Missense_Mutation_p.D308H|EGR3_uc011kzo.1_Missense_Mutation_p.D292H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	346	C2H2-type 3.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TTGCGCTCGTCGCTGCGCGCA	0.647		NaN											0	0	0	0.003163	0	11	39				
GTF2E2	2961	broad.mit.edu	37	8	30472223	30472223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:30472223G>A	uc003xig.2	-	4	521	c.268C>T	c.(268-270)CAG>TAG	p.Q90*		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	90	TFIIE beta.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTCCTCGCTGATGCCGTGTC	0.358		NaN											0	0	0	0.010504	0	21	73				
DDHD2	23259	broad.mit.edu	37	8	38090714	38090714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:38090714G>A	uc003xlb.2	+	2	579	c.202G>A	c.(202-204)GAA>AAA	p.E68K	DDHD2_uc003xla.2_Missense_Mutation_p.E68K|DDHD2_uc003xlc.2_Missense_Mutation_p.E68K|DDHD2_uc011lbl.1_5'UTR	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	68	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACAGCAGCTGGAAGAGGCATA	0.388		NaN											0	0	0	0.006122	0	18	76				
MCM4	4173	broad.mit.edu	37	8	48888324	48888324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:48888324G>C	uc003xqk.1	+	16	2510	c.2415G>C	c.(2413-2415)TTG>TTC	p.L805F	MCM4_uc003xql.1_Missense_Mutation_p.L805F|MCM4_uc011ldi.1_Missense_Mutation_p.L792F	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	805					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGAAGCATTGAAAAAGCTTA	0.328		NaN											0	0	0	0.013537	0	13	58				
CHD7	55636	broad.mit.edu	37	8	61748694	61748694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:61748694C>T	uc003xue.2	+	16	4318	c.3841C>T	c.(3841-3843)CAG>TAG	p.Q1281*		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1281					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGATTTTCAGCTCCAGGC	0.458		NaN											0	0	0	0.001855	0	14	13		Valid		
ZFHX4	79776	broad.mit.edu	37	8	77618332	77618332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:77618332C>T	uc003yav.2	+	2	2396	c.2009C>T	c.(2008-2010)CCG>CTG	p.P670L	ZFHX4_uc003yat.1_Missense_Mutation_p.P670L|ZFHX4_uc003yau.1_Missense_Mutation_p.P670L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P670L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	670						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCCTGAGCCGGGTGGCTCT	0.507		NaN								HNSCC(33;0.089)			0	0	0	0.001168	0	5	39				
MMP16	4325	broad.mit.edu	37	8	89179976	89179976	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:89179976A>G	uc003yeb.3	-	4	913	c.631T>C	c.(631-633)TTC>CTC	p.F211L	MMP16_uc003yec.2_Missense_Mutation_p.F211L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	211	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGTCCAGGGAAGTAGGCATGT	0.438		NaN											0	0	0	0.008871	0	19	102				
NBN	4683	broad.mit.edu	37	8	90955531	90955531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:90955531G>A	uc003yej.1	-	14	2244	c.2134C>T	c.(2134-2136)CAT>TAT	p.H712Y	NBN_uc003yei.1_Missense_Mutation_p.H630Y|NBN_uc011lgb.1_Missense_Mutation_p.H712Y	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	712					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTCGAGCATGATGAGCTATT	0.393		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.01441	0	114	87				
ESRP1	54845	broad.mit.edu	37	8	95653664	95653664	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:95653664C>T	uc003ygq.3	+	1	301	c.118C>T	c.(118-120)CTG>TTG	p.L40L	ESRP1_uc003ygr.3_Silent_p.L40L|ESRP1_uc003ygs.3_Silent_p.L40L|ESRP1_uc003ygt.3_Silent_p.L40L|ESRP1_uc003ygu.3_Silent_p.L40L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	40					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						AGTCGTGGATCTGGCCAACAA	0.527		NaN											0	0	0	0.01441	0	46	37				
TMEM74	157753	broad.mit.edu	37	8	109797208	109797208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:109797208G>C	uc003ymy.1	-	2	225	c.120C>G	c.(118-120)CTC>CTG	p.L40L	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	40					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCTGACAGCAGAGAGCAGCTC	0.542		NaN											0	0	0	0.007413	0	18	121				
ANXA13	312	broad.mit.edu	37	8	124693585	124693585	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:124693585C>T	uc003yqu.2	-	11	919	c.846G>A	c.(844-846)GGG>GGA	p.G282G	ANXA13_uc003yqt.2_Silent_p.G323G	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	282	Annexin 4.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCTTTGATCCCCTGAAGGT	0.343		NaN											0	0	0	0.01441	0	140	129				
COL22A1	169044	broad.mit.edu	37	8	139629181	139629181	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:139629181G>A	uc003yvd.2	-	54	4293	c.3846C>T	c.(3844-3846)GGC>GGT	p.G1282G	COL22A1_uc011ljo.1_Silent_p.G562G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587		NaN								HNSCC(7;0.00092)			0	0	0	0.01441	0	64	37				
CPSF1	29894	broad.mit.edu	37	8	145622704	145622704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:145622704C>T	uc003zcj.2	-	22	2458	c.2383G>A	c.(2383-2385)GAG>AAG	p.E795K		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	795					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCACCTACCTCCATGGTGCCA	0.682		NaN											0	0	0	0.010729	0	12	9				
ZNF7	7553	broad.mit.edu	37	8	146068042	146068042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146068042G>A	uc003zeg.3	+	5	1687	c.1550G>A	c.(1549-1551)AGA>AAA	p.R517K	ZNF7_uc010mge.2_Missense_Mutation_p.R528K|ZNF7_uc011lln.1_Missense_Mutation_p.R421K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.R421K|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	517	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TACCATCAGAGAATCCATAAA	0.453		NaN											0	0	0	0.001855	0	14	102				
C8orf33	65265	broad.mit.edu	37	8	146279413	146279413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146279413C>G	uc003zfc.3	+	5	614	c.560C>G	c.(559-561)TCA>TGA	p.S187*	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	187											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GCTGCTTATTCAGCCCAGGTG	0.393		NaN											0	0	0	0.01441	0	160	148				
DOCK8	81704	broad.mit.edu	37	9	422091	422091	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:422091G>A	uc003zgf.2	+	33	4309	c.4197G>A	c.(4195-4197)AAG>AAA	p.K1399K	DOCK8_uc010mgu.2_Silent_p.K701K|DOCK8_uc010mgv.2_Silent_p.K1299K|DOCK8_uc003zgk.2_Silent_p.K857K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1399	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAGATGGAAGAAAGAGCAGA	0.398		NaN											0	0	0	0.012319	0	17	24				
DOCK8	81704	broad.mit.edu	37	9	429848	429848	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:429848C>T	uc003zgf.2	+	36	4732	c.4620C>T	c.(4618-4620)GCC>GCT	p.A1540A	DOCK8_uc010mgu.2_Silent_p.A842A|DOCK8_uc010mgv.2_Silent_p.A1440A|DOCK8_uc003zgk.2_Silent_p.A998A	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1540	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTTTGGAGCCACCAGTGTAA	0.468		NaN											0	0	0	0.00499	0	18	27				
RFK	55312	broad.mit.edu	37	9	79002362	79002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:79002362C>T	uc004akd.2	-	4	778	c.442G>A	c.(442-444)GAC>AAC	p.D148N	RFK_uc004ake.2_3'UTR	NM_018339	NP_060809	Q969G6	RIFK_HUMAN	riboflavin kinase	141					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity				0					Riboflavin(DB00140)	AAGAAATTGTCTTCTTTGATT	0.313		NaN											0	0	0	0.01441	0	70	108				
FAM22F	54754	broad.mit.edu	37	9	97082700	97082700	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:97082700G>C	uc004aup.1	-	5	1179	c.1158C>G	c.(1156-1158)GTC>GTG	p.V386V		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	386	Pro-rich.										0		Acute lymphoblastic leukemia(62;0.136)				TCTCCTCAGGGACCTTGGTCT	0.667		NaN											0	0	0	0.013726	0	30	40				
SNX30	401548	broad.mit.edu	37	9	115598511	115598511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115598511G>A	uc004bgj.3	+	5	784	c.636G>A	c.(634-636)AAG>AAA	p.K212K	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	212					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						ACGCCTACAAGAAGCAAGGGA	0.498		NaN											0	0	0	0.012319	0	23	163				
ZFP37	7539	broad.mit.edu	37	9	115805331	115805331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115805331C>G	uc004bgm.1	-	4	1595	c.1567G>C	c.(1567-1569)GGG>CGG	p.G523R	ZFP37_uc011lwz.1_Missense_Mutation_p.G538R|ZFP37_uc011lxa.1_Missense_Mutation_p.G524R	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	523	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AAGCCTTTCCCACATTGATTA	0.388		NaN											0	0	0	0.005524	0	39	77				
COL27A1	85301	broad.mit.edu	37	9	117027210	117027210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:117027210C>G	uc011lxl.1	+	30	3256	c.3256C>G	c.(3256-3258)CCA>GCA	p.P1086A	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1086	Pro-rich.|Collagen-like 8.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						ACAGGGCCCTCCAGGACCCCA	0.612		NaN											0	0	0	0.010771	0	39	42				
FAM125B	89853	broad.mit.edu	37	9	129157918	129157918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129157918C>T	uc004bqh.1	+	6	685	c.604C>T	c.(604-606)CAA>TAA	p.Q202*	FAM125B_uc004bqg.1_Nonsense_Mutation_p.Q202*|FAM125B_uc011lzy.1_Nonsense_Mutation_p.Q187*|FAM125B_uc010mxd.2_Nonsense_Mutation_p.Q195*|FAM125B_uc011lzz.1_Nonsense_Mutation_p.Q195*	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	202					protein transport	late endosome membrane					0						TGACTCATCTCAACCCACAAC	0.522		NaN											0	0	0	0.004656	0	26	143				
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129958857G>A	uc004bqo.1	+	13	1409	c.1142G>A	c.(1141-1143)CGA>CAA	p.R381Q	RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CGCAGCCCCCGAAGGGGCCTG	0.577		NaN											0	0	0	0.01441	0	61	47				
CRAT	1384	broad.mit.edu	37	9	131864290	131864290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:131864290G>A	uc004bxh.2	-	6	959	c.677C>T	c.(676-678)GCG>GTG	p.A226V	CRAT_uc004bxg.2_Missense_Mutation_p.A205V|CRAT_uc004bxk.3_Missense_Mutation_p.A205V	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	226					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GATCTGATCCGCAGTGAGGGG	0.567		NaN											0	0	0	0.009096	0	4	38				
ABL1	25	broad.mit.edu	37	9	133760298	133760298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:133760298G>A	uc004bzw.2	+	11	2624	c.2621G>A	c.(2620-2622)AGA>AAA	p.R874K	ABL1_uc004bzv.2_Missense_Mutation_p.R893K	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	874	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAGGAGTCCAGAGTGAGGAGG	0.667		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.001984	0	5	12				
RAPGEF1	2889	broad.mit.edu	37	9	134454941	134454941	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134454941C>G	uc004cbc.2	-	24	3307	c.3177G>C	c.(3175-3177)CTG>CTC	p.L1059L	RAPGEF1_uc004cbb.2_Silent_p.L1077L	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	1059	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTTAATTTTCAGAGACAGTT	0.517		NaN											0	0	0	0.003271	0	34	148				
MED27	9442	broad.mit.edu	37	9	134952861	134952861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134952861G>C	uc004cbe.1	-	2	338	c.316C>G	c.(316-318)CAA>GAA	p.Q106E	MED27_uc004cbf.1_Missense_Mutation_p.Q106E|MED27_uc011mco.1_Missense_Mutation_p.Q106E|MED27_uc004cbg.3_Missense_Mutation_p.Q106E	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	106					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TGAAGGAGTTGACTATAGAGA	0.418		NaN											0	0	0	0.01441	0	43	213				
TSC1	7248	broad.mit.edu	37	9	135781419	135781419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:135781419G>A	uc004cca.2	-	15	1780	c.1546C>T	c.(1546-1548)CAG>TAG	p.Q516*	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q515*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q465*|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	516					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTCCGCTGAGAACCTGGG	0.567		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.010504	0	21	19		Valid		
FCN2	2220	broad.mit.edu	37	9	137777709	137777709	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137777709G>A	uc004cfg.1	+	6	535	c.525G>A	c.(523-525)CTG>CTA	p.L175L	FCN2_uc004cfh.1_Silent_p.L137L	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	175	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGTTCTGGCTGGGGAATGACA	0.672		NaN											0	0	0	0.004656	0	26	24				
FCN1	2219	broad.mit.edu	37	9	137804336	137804336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137804336G>C	uc004cfi.2	-	7	686	c.594C>G	c.(592-594)GCC>GCG	p.A198A		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	198	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCTACCCTGGGCAGTCAGGG	0.642		NaN											0	0	0	0.001168	0	4	13				
IL3RA	3563	broad.mit.edu	37	X	1475113	1475113	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:1475113G>A	uc004cps.2	+	7	966	c.617_splice	c.e7-1	p.E206_splice	IL3RA_uc011mhd.1_Splice_Site_p.E128_splice	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor							integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCGTTGCTAGAGATATTAAC	0.328		NaN											0	0	0	0.01441	0	52	171				
MXRA5	25878	broad.mit.edu	37	X	3239350	3239350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:3239350G>A	uc004crg.3	-	5	4533	c.4376C>T	c.(4375-4377)ACC>ATC	p.T1459I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1459						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGATCAAGGGTGGTGGTTTC	0.488		NaN											0	0	0	0.00623	0	40	32				
ARHGAP6	395	broad.mit.edu	37	X	11272742	11272742	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:11272742G>A	uc004cup.1	-	2	1547	c.674C>T	c.(673-675)GCC>GTC	p.A225V	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A225V|ARHGAP6_uc004cum.1_Missense_Mutation_p.A22V|ARHGAP6_uc004cun.1_Missense_Mutation_p.A45V|ARHGAP6_uc010neb.1_Missense_Mutation_p.A47V|ARHGAP6_uc011mif.1_Missense_Mutation_p.A22V	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	225					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						CTGCAGCCGGGCCCTCTCCAG	0.547		NaN											0	0	0	0.005443	0	27	29				
MAGEB10	139422	broad.mit.edu	37	X	27840056	27840056	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:27840056C>T	uc004dbw.2	+	3	860	c.633C>T	c.(631-633)ATC>ATT	p.I211I		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	211	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3						TGGGTATTATCTTCACAAATG	0.473		NaN											0	0	0	0.003163	0	15	38				
ARAF	369	broad.mit.edu	37	X	47422403	47422403	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:47422403G>A	uc011mlq.1	+	2	170	c.37G>A	c.(37-39)GAG>AAG	p.E13K	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Missense_Mutation_p.E13K|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	13					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CAATGGGGCCGAGCCATCCCG	0.627		NaN									OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	3				
GNL3L	54552	broad.mit.edu	37	X	54569458	54569458	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:54569458A>G	uc004dth.1	+	6	516	c.377A>G	c.(376-378)AAG>AGG	p.K126R	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	126					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						GCTTATTACAAGGAGTTCCGT	0.453		NaN											0	0	0	0.00278	0	23	15				
LAS1L	81887	broad.mit.edu	37	X	64753613	64753613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:64753613G>A	uc004dwa.1	-	2	311	c.239C>T	c.(238-240)TCA>TTA	p.S80L	LAS1L_uc004dwc.1_Missense_Mutation_p.S80L|LAS1L_uc004dwd.1_Intron	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	80						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						TTCGTTGCCTGACCTAAAGGG	0.517		NaN											0	0	0	0.009535	0	23	17				
DIAPH2	1730	broad.mit.edu	37	X	96136711	96136711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:96136711C>T	uc004efu.3	+	5	977	c.581C>T	c.(580-582)CCG>CTG	p.P194L	DIAPH2_uc004eft.3_Missense_Mutation_p.P194L|DIAPH2_uc004efs.2_Missense_Mutation_p.P201L|RPA4_uc004efv.3_5'Flank	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	194	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						ACCAGCAATCCGGTCAGGTAA	0.343		NaN											0	0	0	0.01441	0	51	33				
BTK	695	broad.mit.edu	37	X	100608277	100608277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:100608277C>T	uc004ehg.2	-	18	2006	c.1813G>A	c.(1813-1815)GAG>AAG	p.E605K	BTK_uc004ehf.2_Missense_Mutation_p.E105K|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E81K|BTK_uc010nnm.2_Missense_Mutation_p.E175K|BTK_uc010nnn.2_Missense_Mutation_p.E429K|BTK_uc010nno.2_Missense_Mutation_p.E639K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	605	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TCAGCAGTCTCACTGTTAGTA	0.433		NaN							Agammaglobulinemia_X-linked				0	0	0	0.01441	0	110	88				
PAK3	5063	broad.mit.edu	37	X	110395674	110395674	+	Missense_Mutation	SNP	C	C	T	rs139949467		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:110395674C>T	uc004epa.2	+	5	539	c.512C>T	c.(511-513)TCG>TTG	p.S171L	PAK3_uc010npt.1_Missense_Mutation_p.S156L|PAK3_uc010npu.1_Missense_Mutation_p.S156L|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.S156L|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.S192L|PAK3_uc010npw.1_Missense_Mutation_p.S177L	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	171	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GCCCATCCTTCGGTAAGTGAA	0.338		NaN								TSP Lung(19;0.15)			0	0	0	0.006122	0	17	57				
TKTL1	8277	broad.mit.edu	37	X	153524334	153524334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153524334C>T	uc004fkg.2	+	1	308	c.122C>T	c.(121-123)TCC>TTC	p.S41F	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.S41F|TKTL1_uc011mzm.1_Missense_Mutation_p.S41F	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	41					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACATGCTCCACGAGCTCC	0.622		NaN											0	0	0	0.00499	0	18	53				
PLXNA3	55558	broad.mit.edu	37	X	153697282	153697282	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153697282C>T	uc004flm.2	+	25	4577	c.4404C>T	c.(4402-4404)CTC>CTT	p.L1468L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1468	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGACAAGCTCATCCGTCAGC	0.612		NaN											0	0	0	0.004878	0	34	23				
USP9Y	8287	broad.mit.edu	37	Y	14832567	14832567	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrY:14832567C>A	uc004fst.1	+	4	1087	c.142C>A	c.(142-144)CCT>ACT	p.P48T	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	48					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AGCAACTCCTCCTCCAGAGGA	0.403		NaN											1	0	6.36457e-07	0.003954	6.53519e-07	25	28				
TAS1R1	80835	broad.mit.edu	37	1	6639446	6639446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6639446C>G	uc001ant.2	+	6	2328	c.2328C>G	c.(2326-2328)TTC>TTG	p.F776L	TAS1R1_uc001anu.2_Missense_Mutation_p.F522L|TAS1R1_uc001anv.2_Missense_Mutation_p.S308C|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	776	Helical; Name=6; (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGATCGCCTTCTTCACCACGG	0.577		NaN											0	0	0	0.108266	0	23	78				
DNAJC11	55735	broad.mit.edu	37	1	6697333	6697333	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:6697333C>A	uc001aof.2	-	14	1555	c.1449G>T	c.(1447-1449)GTG>GTT	p.V483V	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V431V|DNAJC11_uc010nzu.1_Silent_p.V393V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	483					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCACCTTCACCTTCTCGC	0.562		NaN											1	0	3.28864e-39	0.048971	3.51189e-39	91	117				
FBXO42	54455	broad.mit.edu	37	1	16577222	16577222	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577222C>G	uc001ayg.2	-	10	2313	c.2097G>C	c.(2095-2097)CAG>CAC	p.Q699H	FBXO42_uc001aye.3_Missense_Mutation_p.Q417H|FBXO42_uc001ayf.2_Missense_Mutation_p.Q606H	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	699										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTTCACATTCTGTTTCTTGT	0.428		NaN											0	0	0	0.048971	0	143	177				
FBXO42	54455	broad.mit.edu	37	1	16577397	16577397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:16577397C>T	uc001ayg.2	-	10	2138	c.1922G>A	c.(1921-1923)TGC>TAC	p.C641Y	FBXO42_uc001aye.3_Missense_Mutation_p.C359Y|FBXO42_uc001ayf.2_Missense_Mutation_p.C548Y	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	641										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CATGGGCTTGCAGTTCATACT	0.512		NaN											0	0	0	0.048971	0	165	188				
ZBTB40	9923	broad.mit.edu	37	1	22828819	22828819	+	Missense_Mutation	SNP	C	C	G	rs147907060	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828819C>G	uc001bft.2	+	6	1563	c.1052C>G	c.(1051-1053)TCT>TGT	p.S351C	ZBTB40_uc001bfu.2_Missense_Mutation_p.S351C|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	351					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGACCTTGTCTGTTCTGTTA	0.453		NaN											0	0	0	0.069234	0	11	17				
ZBTB40	9923	broad.mit.edu	37	1	22828866	22828866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:22828866C>T	uc001bft.2	+	6	1610	c.1099C>T	c.(1099-1101)CAG>TAG	p.Q367*	ZBTB40_uc001bfu.2_Nonsense_Mutation_p.Q367*|ZBTB40_uc009vqi.1_Intron|ZBTB40_uc001bfv.1_5'UTR	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	367					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGTGTAACACAGCTGAGACC	0.488		NaN											0	0	0	0.049695	0	20	20				
DHDDS	79947	broad.mit.edu	37	1	26772917	26772917	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:26772917A>T	uc001bml.2	+	5	555	c.434A>T	c.(433-435)TAC>TTC	p.Y145F	DHDDS_uc001bmk.2_Missense_Mutation_p.Y145F|DHDDS_uc001bmm.2_Missense_Mutation_p.Y52F|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Missense_Mutation_p.Y145F	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	145							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACGAAGAACTACAACAAGTAA	0.512		NaN											0	0	0	0.048971	0	69	90				
EPB41	2035	broad.mit.edu	37	1	29438918	29438918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:29438918G>C	uc001brm.1	+	18	2461	c.2454G>C	c.(2452-2454)AAG>AAC	p.K818N	EPB41_uc001brg.1_Missense_Mutation_p.K595N|EPB41_uc001brh.1_Missense_Mutation_p.K542N|EPB41_uc001bri.1_Missense_Mutation_p.K729N|EPB41_uc001brj.1_Missense_Mutation_p.K555N|EPB41_uc001brl.1_Missense_Mutation_p.K785N|EPB41_uc009vtl.1_Missense_Mutation_p.K512N|EPB41_uc009vtm.1_Missense_Mutation_p.K397N|EPB41_uc009vtn.1_RNA	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	818	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTATTGAAAAGAGAATTGTGA	0.428		NaN											0	0	0	0.045705	0	31	106				
HMGB4	127540	broad.mit.edu	37	1	34329950	34329950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:34329950C>G	uc001bxp.2	+	2	1901	c.158C>G	c.(157-159)TCA>TGA	p.S53*	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	53						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGATCCATCTCAAAGCATGAA	0.413		NaN											0	0	0	0.083992	0	24	115				
KDM4A	9682	broad.mit.edu	37	1	44169940	44169940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:44169940G>A	uc001cjx.2	+	22	3260	c.3094G>A	c.(3094-3096)GAG>AAG	p.E1032K	uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	1032					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GATTTTCACAGAGAAAGAGGT	0.438		NaN											0	0	0	0.048971	0	144	172				
ELAVL4	1996	broad.mit.edu	37	1	50610766	50610766	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:50610766C>T	uc001csb.2	+	2	415	c.147C>T	c.(145-147)ATC>ATT	p.I49I	ELAVL4_uc001cry.3_Silent_p.I52I|ELAVL4_uc001crz.3_Silent_p.I49I|ELAVL4_uc001csa.3_Silent_p.I66I|ELAVL4_uc001csc.3_Silent_p.I49I|ELAVL4_uc009vyu.2_Silent_p.I54I|ELAVL4_uc010omz.1_Silent_p.I54I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	49	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						CCAACCTCATCGTCAACTATT	0.448		NaN											0	0	0	0.038147	0	8	31				
ORC1L	4998	broad.mit.edu	37	1	52863536	52863536	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:52863536C>T	uc001ctt.2	-	4	443	c.224_splice	c.e4-1	p.D75_splice	ORC1L_uc010oni.1_Splice_Site_p.D75_splice|ORC1L_uc001ctu.2_Splice_Site_p.D75_splice|ORC1L_uc009vzd.2_Splice_Site	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1						cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GGATCAGAGTCTAGAAAGAAT	0.363		NaN											0	0	0	0.064281	0	34	98				
GLIS1	148979	broad.mit.edu	37	1	54060249	54060249	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:54060249C>T	uc001cvr.1	-	3	894	c.327G>A	c.(325-327)CTG>CTA	p.L109L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	109					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GATCTCCCGTCAGAGGGGGGC	0.657		NaN											0	0	0	0.055883	0	19	56				
PCSK9	255738	broad.mit.edu	37	1	55523842	55523842	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:55523842C>G	uc001cyf.1	+	8	1605	c.1314C>G	c.(1312-1314)CCC>CCG	p.P438P	PCSK9_uc010oom.1_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	438					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TACTGACCCCCAACCTGGTGG	0.627		NaN											0	0	0	0.0333	0	15	71				
ABCA4	24	broad.mit.edu	37	1	94476481	94476481	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94476481C>T	uc001dqh.2	-	40	5693	c.5589G>A	c.(5587-5589)GAG>GAA	p.E1863E	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Silent_p.E131E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1863					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGAGTGCTCCTCACCTGGGC	0.592		NaN											0	0	0	0.038147	0	8	30				
ARHGAP29	9411	broad.mit.edu	37	1	94674863	94674863	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:94674863G>A	uc001dqj.3	-	4	753	c.384C>T	c.(382-384)CTC>CTT	p.L128L	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.L128L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	128					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTCCTGGAAGAGATCGTTTT	0.323		NaN											0	0	0	0.024245	0	15	31				
AGL	178	broad.mit.edu	37	1	100379088	100379088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:100379088G>C	uc001dsi.1	+	30	4355	c.3955G>C	c.(3955-3957)GCT>CCT	p.A1319P	AGL_uc001dsj.1_Missense_Mutation_p.A1319P|AGL_uc001dsk.1_Missense_Mutation_p.A1319P|AGL_uc001dsl.1_Missense_Mutation_p.A1319P|AGL_uc001dsm.1_Missense_Mutation_p.A1303P|AGL_uc001dsn.1_Missense_Mutation_p.A1302P	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1319	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTCAGGAAAGGCTATAAAGGT	0.294		NaN											0	0	0	0.069234	0	8	25				
AMY2A	279	broad.mit.edu	37	1	104160582	104160582	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:104160582C>T	uc001dut.2	+	2	239	c.175C>T	c.(175-177)CCA>TCA	p.P59S	AMY2A_uc010ouq.1_Missense_Mutation_p.P59S	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	59					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GTAGGTCTCTCCACCAAATGA	0.333		NaN											0	0	0	0.058154	0	10	45				
NUDT17	200035	broad.mit.edu	37	1	145586854	145586854	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:145586854G>A	uc001eoe.2	-	7	842	c.834C>T	c.(832-834)GTC>GTT	p.V278V	NBPF10_uc001emp.3_Intron	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety	278							hydrolase activity|metal ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCAGTGCTGACTCTCTCTT	0.547		NaN											0	0	0	0.048971	0	294	465				
SV2A	9900	broad.mit.edu	37	1	149885327	149885327	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:149885327G>T	uc001etg.2	-	2	557	c.66C>A	c.(64-66)GTC>GTA	p.V22V	SV2A_uc001eth.2_Silent_p.V22V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	22	Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATGCTTTTTGACTTCCTTAG	0.552		NaN											1	0	8.39805e-80	0.048971	9.0628e-80	130	181				
SCNM1	79005	broad.mit.edu	37	1	151138954	151138954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:151138954G>A	uc001ewz.2	+	2	171	c.59G>A	c.(58-60)AGA>AAA	p.R20K	LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.R20K|SCNM1_uc009wmn.2_RNA	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	20	Bipartite nuclear localization signal (Potential).				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAAAGAAGAGTCGGGGAC	0.527		NaN											0	0	0	0.09319	0	9	61				
HRNR	388697	broad.mit.edu	37	1	152188121	152188121	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:152188121G>T	uc001ezt.1	-	3	6060	c.5984C>A	c.(5983-5985)TCT>TAT	p.S1995Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1995	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGAGCGAGACTCTCGGTG	0.572		NaN											1	0	5.43694e-19	0.080422	5.74601e-19	22	404				
GATAD2B	57459	broad.mit.edu	37	1	153800712	153800712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:153800712C>T	uc001fdb.3	-	2	356	c.112G>A	c.(112-114)GAG>AAG	p.E38K		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	38						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCATGGCCTCATGCCCCTCC	0.502		NaN											0	0	0	0.048971	0	200	330				
DCST1	149095	broad.mit.edu	37	1	155020372	155020372	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155020372C>G	uc001fgn.1	+	15	1818	c.1722C>G	c.(1720-1722)CTC>CTG	p.L574L	DCST1_uc010pes.1_Silent_p.L549L|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	574	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTACCGACTCCGGAGGGTCA	0.607		NaN											0	0	0	0.047766	0	8	76				
TRIM46	80128	broad.mit.edu	37	1	155152267	155152267	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:155152267G>A	uc001fhs.1	+	8	1528	c.1445G>A	c.(1444-1446)CGG>CAG	p.R482Q	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R482Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.R356Q|TRIM46_uc001fhu.1_Missense_Mutation_p.R459Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R469Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R469Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	482	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCAGCGGCGGGAGGAG	0.687		NaN											0	0	0	0.038147	0	6	18				
IQGAP3	128239	broad.mit.edu	37	1	156497752	156497752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:156497752G>A	uc001fpf.2	-	37	4849	c.4774C>T	c.(4774-4776)CAC>TAC	p.H1592Y		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1592					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTGATAGTGAAGCTGAAAT	0.527		NaN											0	0	0	0.048971	0	50	51				
DDR2	4921	broad.mit.edu	37	1	162725538	162725538	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:162725538A>G	uc001gcf.2	+	8	1115	c.650A>G	c.(649-651)TAT>TGT	p.Y217C	DDR2_uc001gcg.2_Missense_Mutation_p.Y217C	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	217	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATTCTGTCTATGATGGAGCT	0.403		NaN											0	0	0	0.080422	0	35	28				
TPR	7175	broad.mit.edu	37	1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:186304579G>A	uc001grv.2	-	34	5099	c.4802C>T	c.(4801-4803)GCG>GTG	p.A1601V		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1601	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423		NaN	T	NTRK1	papillary thyroid								0	0	0	0.021553	0	6	31				
SYT2	127833	broad.mit.edu	37	1	202571539	202571539	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:202571539C>T	uc001gye.2	-	5	793	c.600G>A	c.(598-600)CTG>CTA	p.L200L	SYT2_uc010pqb.1_Silent_p.L200L|SYT2_uc009xaf.2_Silent_p.L30L	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGGCAGGGTTCAGTGTCTTCC	0.517		NaN											0	0	0	0.048971	0	159	79				
CENPF	1063	broad.mit.edu	37	1	214794110	214794110	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:214794110C>T	uc001hkm.2	+	6	860	c.686C>T	c.(685-687)TCA>TTA	p.S229L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	229	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGTCATCTTTCATCTAATTCT	0.458		NaN											0	0	0	0.048971	0	67	36				
HHIPL2	79802	broad.mit.edu	37	1	222713588	222713588	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:222713588G>T	uc001hnh.1	-	4	1272	c.1214C>A	c.(1213-1215)TCT>TAT	p.S405Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	405					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CCCTGGCTCAGAAACAAATGG	0.587		NaN											1	0	1.00246e-47	0.048971	1.07332e-47	77	35				
ZP4	57829	broad.mit.edu	37	1	238048519	238048519	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:238048519G>A	uc001hym.2	-	9	1257	c.1257C>T	c.(1255-1257)ATC>ATT	p.I419I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	419	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAGGTGAAGATGCTGAAGC	0.547		NaN											0	0	0	0.11126	0	42	18				
ZNF670	93474	broad.mit.edu	37	1	247200919	247200919	+	Silent	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:247200919C>A	uc001icd.1	-	4	1173	c.1002G>T	c.(1000-1002)GTG>GTT	p.V334V	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATAAGGTTTCACTCCAGTGT	0.408		NaN											1	0	1.79992e-35	0.048971	1.9171e-35	93	126				
OR2G6	391211	broad.mit.edu	37	1	248685406	248685406	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr1:248685406C>T	uc001ien.1	+	1	459	c.459C>T	c.(457-459)CTC>CTT	p.L153L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCGGCCTCATCACCTCCC	0.572		NaN											0	0	0	0.076483	0	23	16				
ADARB2	105	broad.mit.edu	37	10	1405328	1405328	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:1405328C>G	uc009xhq.2	-	3	1346	c.972G>C	c.(970-972)AAG>AAC	p.K324N		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	324	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGGCCAGCTTCTTGCTGCGCC	0.721		NaN											0	0	0	0.058154	0	9	12				
KIAA1217	56243	broad.mit.edu	37	10	24833013	24833013	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:24833013A>C	uc001iru.3	+	19	5217	c.4814A>C	c.(4813-4815)TAT>TCT	p.Y1605S	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.Y1288S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.Y441S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1605					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GTGGTAGTCTATGAAGAAGAG	0.468		NaN											0	0	0	0.039052	0	40	80				
GPR158	57512	broad.mit.edu	37	10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:25886754G>T	uc001isj.2	+	11	2259	c.2199G>T	c.(2197-2199)ATG>ATT	p.M733I	GPR158_uc001isk.2_Missense_Mutation_p.M108I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	733	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GAAAGAAGATGATCACAAACA	0.448		NaN											1	0	0.000151284	0.105934	0.000153157	14	31				
EPC1	80314	broad.mit.edu	37	10	32635714	32635714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:32635714C>T	uc001iwg.1	-	1	400	c.130G>A	c.(130-132)GGA>AGA	p.G44R	EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Missense_Mutation_p.G44R	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	44					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				TTCTCCATTCCGGTGGGCATC	0.647		NaN									OREG0020115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.092188	0	38	79				
FAM21C	253725	broad.mit.edu	37	10	46250443	46250443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:46250443G>C	uc001jcu.2	+	15	1399	c.1300G>C	c.(1300-1302)GAG>CAG	p.E434Q	FAM21C_uc001jcs.1_Missense_Mutation_p.E379Q|FAM21C_uc001jct.2_Missense_Mutation_p.E434Q|FAM21C_uc010qfi.1_Missense_Mutation_p.E410Q|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	434										ovary(1)	1						ACAGAAGCCTGAGCAGCCCAC	0.493		NaN											0	0	0	0.024245	0	8	25				
ANK3	288	broad.mit.edu	37	10	61830487	61830487	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:61830487C>G	uc001jky.2	-	37	10344	c.10152G>C	c.(10150-10152)CAG>CAC	p.Q3384H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3384					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGTTCCCATTCTGGGCAATTT	0.463		NaN											0	0	0	0.020292	0	13	41				
ZNF518A	9849	broad.mit.edu	37	10	97919969	97919969	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr10:97919969G>C	uc001klp.2	+	6	4747	c.3890G>C	c.(3889-3891)AGA>ACA	p.R1297T	ZNF518A_uc001klo.1_Missense_Mutation_p.R767T|ZNF518A_uc001klq.2_Missense_Mutation_p.R1297T|ZNF518A_uc001klr.2_Missense_Mutation_p.R1297T	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACATTGCATAGAAAGTGTAAA	0.383		NaN											0	0	0	0.009096	0	3	6				
MUC5B	727897	broad.mit.edu	37	11	1155713	1155713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:1155713G>C	uc009ycr.1	+	5	527	c.401G>C	c.(400-402)AGC>ACC	p.S134T		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACGCTGAGCAGGGTCCTC	0.637		NaN											0	0	0	0.105934	0	12	14				
OR56A5	390084	broad.mit.edu	37	11	5988888	5988888	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:5988888G>C	uc010qzu.1	-	1	837	c.837C>G	c.(835-837)CTC>CTG	p.L279L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	279	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						GCAGGATGTTGAGCAGGATGG	0.527		NaN											0	0	0	0.009096	0	4	11				
CCDC73	493860	broad.mit.edu	37	11	32624470	32624470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:32624470G>C	uc001mtv.2	-	18	3171	c.3127C>G	c.(3127-3129)CTC>GTC	p.L1043V		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	1043										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TTCGTAATGAGGCTCTGCCAG	0.368		NaN											0	0	0	0.048971	0	48	38				
NUP160	23279	broad.mit.edu	37	11	47806511	47806511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:47806511C>G	uc001ngm.2	-	33	4038	c.3953G>C	c.(3952-3954)GGA>GCA	p.G1318A	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1318					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						CAGAGGCACTCCATGAGACAA	0.398		NaN											0	0	0	0.048971	0	75	54				
OR4A47	403253	broad.mit.edu	37	11	48511051	48511051	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:48511051C>G	uc010rhx.1	+	1	707	c.707C>G	c.(706-708)TCA>TGA	p.S236*		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AAAGCCCTCTCAACCTGCAGT	0.433		NaN											0	0	0	0.105934	0	14	27				
FOLH1	2346	broad.mit.edu	37	11	49176030	49176030	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:49176030G>A	uc001ngy.2	-	16	1899	c.1638C>T	c.(1636-1638)TTC>TTT	p.F546F	FOLH1_uc001ngx.2_5'UTR|FOLH1_uc001ngz.2_Silent_p.F546F|FOLH1_uc009yly.2_Silent_p.F531F|FOLH1_uc009ylz.2_Silent_p.F531F|FOLH1_uc009yma.2_Silent_p.F238F	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	546	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GATAGCCGCTGAATTTGTTTG	0.333		NaN											0	0	0	0.009096	0	3	21				
OR4C6	219432	broad.mit.edu	37	11	55433450	55433450	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:55433450G>T	uc001nht.3	+	3	1073	c.808G>T	c.(808-810)GCT>TCT	p.A270S	OR4C6_uc010rik.1_Missense_Mutation_p.A270S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	270	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CAAGGCAATGGCTGTGTCAGA	0.463		NaN											1	0	1.3612e-06	0.024245	1.39183e-06	15	9				
SLC43A3	29015	broad.mit.edu	37	11	57193532	57193532	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:57193532C>T	uc001nkg.2	-	3	524	c.114G>A	c.(112-114)AAG>AAA	p.K38K	PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Silent_p.K38K|SLC43A3_uc010rjr.1_Silent_p.K38K|SLC43A3_uc009yme.2_Silent_p.K38K|SLC43A3_uc001nki.2_Silent_p.K38K|SLC43A3_uc009ymf.1_Silent_p.K38K|SLC43A3_uc010rjs.1_Silent_p.K38K|SLC43A3_uc009ymg.1_Silent_p.K38K	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	38					transmembrane transport	integral to membrane		p.K38K(1)		central_nervous_system(1)	1						AATCTTCATTCTTGAAGACAA	0.552		NaN											0	0	0	0.048971	0	61	56				
OR4D6	219983	broad.mit.edu	37	11	59224919	59224919	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:59224919G>A	uc010rku.1	+	1	486	c.486G>A	c.(484-486)CTG>CTA	p.L162L		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGTAATTCTGATGCTTCCAT	0.517		NaN											0	0	0	0.09836	0	44	78				
C11orf85	283129	broad.mit.edu	37	11	64708119	64708119	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:64708119C>G	uc001ocb.1	-	8	548	c.474_splice	c.e8-1	p.R158_splice	C11orf85_uc001occ.1_Splice_Site|C11orf85_uc001ocd.1_Splice_Site_p.N102_splice	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129												0						TTTCCCTATTCTGTTAAAAAG	0.413		NaN											0	0	0	0.048971	0	64	59				
SUV420H1	51111	broad.mit.edu	37	11	67926623	67926623	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:67926623G>T	uc001onm.1	-	11	1446	c.1190C>A	c.(1189-1191)TCT>TAT	p.S397Y	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.S225Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.S157Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GCCAACTGAAGATTTTCGGTT	0.403		NaN											1	0	2.89027e-11	0.069288	3.00794e-11	21	51				
FOLH1B	219595	broad.mit.edu	37	11	89424064	89424064	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:89424064C>T	uc001pda.2	+	11	1240	c.714C>T	c.(712-714)TTC>TTT	p.F238F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	238					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						CAAACAAATTCAGCGGCTATC	0.328		NaN											0	0	0	0.021553	0	3	31				
AMOTL1	154810	broad.mit.edu	37	11	94533316	94533316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:94533316G>A	uc001pfb.2	+	3	1130	c.960G>A	c.(958-960)ATG>ATA	p.M320I	AMOTL1_uc001pfc.2_Missense_Mutation_p.M270I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	320						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAAGCAAATGATGTCCCCAG	0.602		NaN											0	0	0	0.039052	0	45	106				
TRPC6	7225	broad.mit.edu	37	11	101375138	101375138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:101375138C>G	uc001pgk.3	-	2	987	c.562G>C	c.(562-564)GAA>CAA	p.E188Q	TRPC6_uc009ywy.2_Missense_Mutation_p.E188Q|TRPC6_uc009ywz.1_Missense_Mutation_p.E188Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	188	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCTTGCCTTCAGCAAAAGCC	0.458		NaN											0	0	0	0.024245	0	16	11				
PVRL1	5818	broad.mit.edu	37	11	119548477	119548477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:119548477G>A	uc001pwv.2	-	3	693	c.521C>T	c.(520-522)TCA>TTA	p.S174L	PVRL1_uc001pwu.1_Missense_Mutation_p.S174L|PVRL1_uc001pww.2_Missense_Mutation_p.S174L	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	174	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCATTGGCTGAGGTGCAGGT	0.577		NaN											0	0	0	0.09836	0	36	28				
ARHGAP32	9743	broad.mit.edu	37	11	128839644	128839644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr11:128839644C>T	uc009zcp.2	-	22	5422	c.5422G>A	c.(5422-5424)GAA>AAA	p.E1808K	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E767K|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1459K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1808	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TCCTTTCCTTCTGCCACTGAG	0.567		NaN											0	0	0	0.048971	0	61	32				
ERC1	23085	broad.mit.edu	37	12	1213916	1213916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:1213916G>A	uc001qjb.2	+	4	1328	c.1087G>A	c.(1087-1089)GAG>AAG	p.E363K	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E363K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E363K|ERC1_uc010sdv.1_Missense_Mutation_p.E139K|ERC1_uc009zdp.2_5'UTR	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	363	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTTTCTACAGGAGATGCATCG	0.413		NaN											0	0	0	0.041601	0	26	111				
FOXM1	2305	broad.mit.edu	37	12	2975580	2975580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:2975580C>G	uc001qlf.2	-	5	1219	c.954G>C	c.(952-954)TTG>TTC	p.L318F	FOXM1_uc001qle.2_Missense_Mutation_p.L318F|FOXM1_uc001qlg.2_Missense_Mutation_p.L318F|FOXM1_uc009zea.2_Missense_Mutation_p.L317F|FOXM1_uc009zeb.2_Missense_Mutation_p.L317F	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	318	Fork-head.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTCCAATGTCAAGTAGCGGT	0.507		NaN											0	0	0	0.099896	0	25	76				
CD163L1	283316	broad.mit.edu	37	12	7556186	7556186	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7556186A>G	uc001qsy.2	-	6	1379	c.1353T>C	c.(1351-1353)GAT>GAC	p.D451D	CD163L1_uc010sge.1_Silent_p.D461D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	451	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TTGCTTTTCCATCATATGTGC	0.413		NaN											0	0	0	0.014758	0	4	24				
NANOG	79923	broad.mit.edu	37	12	7945759	7945759	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:7945759T>A	uc009zfy.1	+	2	581	c.365T>A	c.(364-366)CTC>CAC	p.L122H		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	122	Homeobox.				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				Kidney(36;0.0872)		TACCTCAGCCTCCAGCAGATG	0.443		NaN											0	0	0	0.050027	0	30	28				
GPRC5D	55507	broad.mit.edu	37	12	13103173	13103173	+	Missense_Mutation	SNP	C	C	T	rs141265402		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:13103173C>T	uc010shp.1	-	1	146	c.146G>A	c.(145-147)CGA>CAA	p.R49Q		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTGGATCTTTCGCATGAGGAA	0.552		NaN											0	0	0	0.069456	0	37	34				
ITPR2	3709	broad.mit.edu	37	12	26875357	26875357	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:26875357G>A	uc001rhg.2	-	5	915	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ITPR2_uc001rhh.1_Silent_p.F104F|ITPR2_uc001rhi.1_Silent_p.F166F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	166	MIR 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCAGTTTCCAGAACGGATGAA	0.388		NaN											0	0	0	0.058154	0	10	21				
KIF21A	55605	broad.mit.edu	37	12	39711890	39711890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:39711890G>A	uc001rly.2	-	29	4039	c.3893C>T	c.(3892-3894)TCA>TTA	p.S1298L	KIF21A_uc001rlv.2_Intron|KIF21A_uc001rlw.2_Intron|KIF21A_uc001rlx.2_Missense_Mutation_p.S1285L|KIF21A_uc001rlz.2_Missense_Mutation_p.S1262L|KIF21A_uc010skl.1_Missense_Mutation_p.S1278L|KIF21A_uc001rlu.2_5'UTR	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1298					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCTGAACTGATGTGTTTCC	0.398		NaN											0	0	0	0.0333	0	16	96				
TROAP	10024	broad.mit.edu	37	12	49723705	49723705	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:49723705A>C	uc001rtx.3	+	12	1397	c.1230A>C	c.(1228-1230)AAA>AAC	p.K410N	TROAP_uc009zlh.2_Missense_Mutation_p.K410N|TROAP_uc001rty.2_Missense_Mutation_p.K118N	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	410					cell adhesion	cytoplasm				ovary(1)	1						GTTCTGGGAAACCACCGGTGG	0.552		NaN											0	0	0	0.064281	0	11	263				
KRT71	112802	broad.mit.edu	37	12	52940119	52940119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:52940119C>G	uc001sao.2	-	7	1346	c.1276G>C	c.(1276-1278)GAC>CAC	p.D426H		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	426	Coil 2.|Rod.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATCTCCATGTCCAGGGCCAGC	0.667		NaN											0	0	0	0.09319	0	12	86				
OR6C6	283365	broad.mit.edu	37	12	55688666	55688666	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:55688666G>A	uc010sph.1	-	1	351	c.351C>T	c.(349-351)TCC>TCT	p.S117S		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	117	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						AGCGGTCATAGGACATGGCAG	0.403		NaN											0	0	0	0.021553	0	6	11				
DNAJC14	85406	broad.mit.edu	37	12	56188642	56188642	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:56188642C>T	uc001shu.1	-	11	2431	c.2375G>A	c.(2374-2376)CGA>CAA	p.R792Q	SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.R109Q|SARNP_uc001shv.3_Missense_Mutation_p.R109Q	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	Error:Variant_position_missing_in_Q6Y2X3_after_alignment					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TACATTGAATCGTTCAGCCCT	0.428		NaN											0	0	0	0.069234	0	11	20				
LGR5	8549	broad.mit.edu	37	12	71833917	71833917	+	Silent	SNP	G	G	A	rs147257938		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:71833917G>A	uc001swl.2	+	1	105	c.57G>A	c.(55-57)GCG>GCA	p.A19A	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Silent_p.A19A|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	19						integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGCAGCTGGCGACCGGGGGCA	0.682		NaN											0	0	0	0.076483	0	20	42				
BTBD11	121551	broad.mit.edu	37	12	108011968	108011968	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:108011968G>A	uc001tmk.1	+	10	2786	c.2265G>A	c.(2263-2265)GAG>GAA	p.E755E	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Silent_p.E755E|BTBD11_uc001tml.1_Silent_p.E292E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	755	ANK 4.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						CCCAGCCAGAGAAGGAGAAGA	0.597		NaN											0	0	0	0.058154	0	9	64				
UBE3B	89910	broad.mit.edu	37	12	109971290	109971290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:109971290G>A	uc001top.2	+	27	3545	c.2942G>A	c.(2941-2943)AGA>AAA	p.R981K	UBE3B_uc001toq.2_Missense_Mutation_p.R981K|UBE3B_uc001tos.2_Missense_Mutation_p.R408K|UBE3B_uc001tot.2_Missense_Mutation_p.R99K|UBE3B_uc010sxp.1_Missense_Mutation_p.R99K	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	981	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGCTGCTCCAGACCCCCGCTC	0.642		NaN											0	0	0	0.048971	0	58	142				
CIT	11113	broad.mit.edu	37	12	120263155	120263155	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:120263155C>T	uc001txi.1	-	8	824	c.771G>A	c.(769-771)CCG>CCA	p.P257P	CIT_uc001txj.1_Silent_p.P257P	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	257	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTCCCAATCGGGAGTTTGG	0.493		NaN											0	0	0	0.092188	0	40	64				
VPS37B	79720	broad.mit.edu	37	12	123351840	123351840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:123351840C>T	uc001udl.2	-	4	784	c.681G>A	c.(679-681)ATG>ATA	p.M227I		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	227	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTCCCGAACTCATGGCCGCAG	0.692		NaN											0	0	0	0.058154	0	6	12				
TMEM132D	121256	broad.mit.edu	37	12	130184379	130184379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:130184379G>C	uc009zyl.1	-	2	1272	c.944C>G	c.(943-945)TCC>TGC	p.S315C		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	315	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTCAGTGGAATTTCTGGA	0.493		NaN											0	0	0	0.0918	0	23	80				
FLT3	2322	broad.mit.edu	37	13	28589746	28589746	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:28589746C>T	uc001urw.2	-	21	2716	c.2634G>A	c.(2632-2634)CTG>CTA	p.L878L	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	878	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGATTTCCCACAGTAATATTC	0.552		NaN	Mis|O		AML|ALL								0	0	0	0.024245	0	14	93				
BRCA2	675	broad.mit.edu	37	13	32914733	32914733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:32914733G>C	uc001uub.1	+	11	6468	c.6241G>C	c.(6241-6243)GAG>CAG	p.E2081Q		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2081	BRCA2 8.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAGTGTTAGAGGAATTTGA	0.353		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.048971	0	56	71				
SLC25A15	10166	broad.mit.edu	37	13	41379289	41379289	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:41379289C>A	uc001uxn.2	+	4	672	c.350C>A	c.(349-351)TCT>TAT	p.S117Y	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.S23Y|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	117	Helical; Name=3; (Potential).|Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TCCTTCGCCTCTGCCTTTGCT	0.552		NaN											1	0	9.57592e-29	0.048971	1.01729e-28	31	36				
PIBF1	10464	broad.mit.edu	37	13	73590051	73590051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:73590051G>C	uc001vjc.2	+	18	2573	c.2268G>C	c.(2266-2268)AAG>AAC	p.K756N	PIBF1_uc010aep.2_Missense_Mutation_p.K215N	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	756						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAGATGAAGACCTAGTGTT	0.348		NaN											0	0	0	0.105934	0	11	45				
COL4A1	1282	broad.mit.edu	37	13	110829360	110829360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr13:110829360G>A	uc001vqw.3	-	34	2863	c.2741C>T	c.(2740-2742)TCA>TTA	p.S914L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	914	Triple-helical region.			S -> K (in Ref. 8; AA sequence).	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGGTCCTGAGGAGCCCGG	0.587		NaN											0	0	0	0.0333	0	18	58				
RPGRIP1	57096	broad.mit.edu	37	14	21762864	21762864	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:21762864G>C	uc001wag.2	+	2	114	c.114G>C	c.(112-114)TTG>TTC	p.L38F		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	38					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AACCACCCTTGAGCAGGATGA	0.413		NaN											0	0	0	0.034045	0	25	38				
HECTD1	25831	broad.mit.edu	37	14	31614067	31614067	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:31614067G>C	uc001wrc.1	-	16	3066	c.2577C>G	c.(2575-2577)CTC>CTG	p.L859L	HECTD1_uc001wrd.1_Silent_p.L374L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	859					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTATGTTTCTGAGTGTTACCA	0.358		NaN											0	0	0	0.083992	0	24	21				
NID2	22795	broad.mit.edu	37	14	52535556	52535556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:52535556C>G	uc001wzo.2	-	1	391	c.157G>C	c.(157-159)GAC>CAC	p.D53H	NID2_uc010tqs.1_Missense_Mutation_p.D53H|NID2_uc010tqt.1_Missense_Mutation_p.D53H|NID2_uc001wzp.2_Missense_Mutation_p.D53H	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	53						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGCTTTCGTCGTCGCCTTCC	0.627		NaN											0	0	0	0.099896	0	26	21				
KIAA0586	9786	broad.mit.edu	37	14	58949408	58949408	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:58949408C>G	uc001xdv.3	+	20	3167	c.2894C>G	c.(2893-2895)TCA>TGA	p.S965*	KIAA0586_uc010trr.1_Nonsense_Mutation_p.S1082*|KIAA0586_uc001xdt.3_Nonsense_Mutation_p.S997*|KIAA0586_uc001xdu.3_Nonsense_Mutation_p.S1026*|KIAA0586_uc010trs.1_Nonsense_Mutation_p.S956*|KIAA0586_uc010trt.1_Nonsense_Mutation_p.S901*|KIAA0586_uc010tru.1_Nonsense_Mutation_p.S901*	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	965										ovary(1)	1						GGGGATGCTTCAACAAATGAA	0.388		NaN											0	0	0	0.043863	0	19	39				
SIX4	51804	broad.mit.edu	37	14	61190738	61190738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:61190738C>G	uc001xfc.2	-	1	55	c.55G>C	c.(55-57)GAG>CAG	p.E19Q	SIX4_uc010app.1_Missense_Mutation_p.E11Q	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	19						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATCCCATTCTCTTGCTTGATG	0.532		NaN											0	0	0	0.048971	0	41	62				
KCNH5	27133	broad.mit.edu	37	14	63269243	63269243	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:63269243C>G	uc001xfx.2	-	9	1677	c.1626G>C	c.(1624-1626)CGG>CGC	p.R542R	KCNH5_uc001xfy.2_Silent_p.R542R|KCNH5_uc001xfz.1_Silent_p.R484R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	542	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAAAAACCTTCCGGTTTAGAT	0.493		NaN											0	0	0	0.009096	0	4	11				
SYNE2	23224	broad.mit.edu	37	14	64586261	64586261	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:64586261G>A	uc001xgm.2	+	67	13187	c.12957G>A	c.(12955-12957)CTG>CTA	p.L4319L	SYNE2_uc001xgl.2_Silent_p.L4319L|SYNE2_uc010apy.2_Silent_p.L704L|SYNE2_uc010apz.1_Silent_p.L211L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4319	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCTGAAACTGAAAACAGTGA	0.428		NaN											0	0	0	0.041601	0	32	21				
PLEKHH1	57475	broad.mit.edu	37	14	68043123	68043123	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:68043123C>G	uc001xjl.1	+	17	2506	c.2364C>G	c.(2362-2364)CTC>CTG	p.L788L	PLEKHH1_uc010tsw.1_Silent_p.L356L|PLEKHH1_uc001xjn.1_Silent_p.L303L|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	788	PH 2.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATACGTGGCTCTACCACCTCA	0.582		NaN											0	0	0	0.043863	0	9	27				
NRXN3	9369	broad.mit.edu	37	14	79270112	79270112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:79270112G>T	uc001xun.2	+	6	1566	c.1075G>T	c.(1075-1077)GAC>TAC	p.D359Y	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D493Y	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	732	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACTCTGCCGACACCCTGCG	0.572		NaN											1	0	1.5842e-08	0.105934	1.64035e-08	12	21				
ASB2	51676	broad.mit.edu	37	14	94405833	94405833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:94405833G>A	uc001ycc.1	-	6	1583	c.1094C>T	c.(1093-1095)TCC>TTC	p.S365F	ASB2_uc001ycb.1_Missense_Mutation_p.S59F|ASB2_uc001ycd.2_Missense_Mutation_p.S413F|ASB2_uc001yce.1_Missense_Mutation_p.S311F	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	365	ANK 10.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTACAGCGCGGAGCTGCGCCG	0.687		NaN											0	0	0	0.02938	0	6	22				
ASPG	374569	broad.mit.edu	37	14	104570652	104570652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr14:104570652C>G	uc001yoq.1	+	8	825	c.765C>G	c.(763-765)TTC>TTG	p.F255L	ASPG_uc001yoo.1_Missense_Mutation_p.F283L|ASPG_uc001yop.1_Missense_Mutation_p.F255L|ASPG_uc001yor.1_Missense_Mutation_p.F255L	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	255	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						TTCGGGCCTTCTTGCAGCCTC	0.677		NaN											0	0	0	0.047766	0	8	23				
TUBGCP5	114791	broad.mit.edu	37	15	22864348	22864348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:22864348G>A	uc001yur.3	+	16	2436	c.2306G>A	c.(2305-2307)CGT>CAT	p.R769H	TUBGCP5_uc001yuq.2_Missense_Mutation_p.R769H	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	769					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTAGGACAGCGTTATCCTGAA	0.289		NaN											0	0	0	0.02938	0	6	156				
TP53BP1	7158	broad.mit.edu	37	15	43783886	43783886	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:43783886G>T	uc001zrs.2	-	4	485	c.337C>A	c.(337-339)CAG>AAG	p.Q113K	TP53BP1_uc010udp.1_Missense_Mutation_p.Q113K|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q118K|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q118K|TP53BP1_uc010udq.1_Missense_Mutation_p.Q118K	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	113					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGTTTGGCTGAGGTAACTGC	0.393		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					1	0	6.04909e-70	0.048971	6.51073e-70	169	335				
B2M	567	broad.mit.edu	37	15	45007713	45007713	+	Missense_Mutation	SNP	G	G	A	rs148494241		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:45007713G>A	uc001zuc.2	+	2	220	c.160G>A	c.(160-162)GAC>AAC	p.D54N	B2M_uc010uek.1_Missense_Mutation_p.D54N|B2M_uc010bdx.1_Missense_Mutation_p.D54N	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	54	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCATCCATCCGACATTGAAGT	0.408		NaN											0	0	0	0.048971	0	65	252				
MYO1E	4643	broad.mit.edu	37	15	59502740	59502740	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:59502740G>A	uc002aga.2	-	13	1707	c.1335C>T	c.(1333-1335)ATC>ATT	p.I445I		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	445	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GGTCACATACGATTTTATTAT	0.348		NaN											0	0	0	0.049695	0	19	128				
C15orf59	388135	broad.mit.edu	37	15	74032895	74032895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74032895G>C	uc002avy.2	-	2	590	c.245C>G	c.(244-246)TCT>TGT	p.S82C		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	82										pancreas(1)	1						GTCACTGCTAGAGGTGCTGCT	0.587		NaN											0	0	0	0.048971	0	84	385				
PML	5371	broad.mit.edu	37	15	74290639	74290639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:74290639G>C	uc002awv.2	+	2	564	c.424G>C	c.(424-426)GAG>CAG	p.E142Q	PML_uc002awm.2_Missense_Mutation_p.E142Q|PML_uc002awl.2_Missense_Mutation_p.E142Q|PML_uc002awj.1_Missense_Mutation_p.E142Q|PML_uc002awk.2_Missense_Mutation_p.E142Q|PML_uc002awn.2_Missense_Mutation_p.E142Q|PML_uc002awo.2_Missense_Mutation_p.E142Q|PML_uc002awp.2_Missense_Mutation_p.E142Q|PML_uc002awq.2_Missense_Mutation_p.E142Q|PML_uc002awr.2_Missense_Mutation_p.E142Q|PML_uc002aws.2_Missense_Mutation_p.E142Q|PML_uc002awt.2_Missense_Mutation_p.E142Q|PML_uc002awu.2_Missense_Mutation_p.E142Q|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E57Q	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	142	B box-type 1; atypical.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CTGGTGCTTTGAGTGCGAGCA	0.637		NaN	T	RARA|PAX5	APL|ALL								0	0	0	0.080935	0	11	46				
PTPN9	5780	broad.mit.edu	37	15	75798059	75798059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:75798059C>G	uc002bal.2	-	7	1433	c.925G>C	c.(925-927)GAC>CAC	p.D309H		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	309	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						CGACGAATGTCTTCATATTCC	0.473		NaN											0	0	0	0.048971	0	110	209				
RASGRF1	5923	broad.mit.edu	37	15	79296180	79296180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:79296180C>T	uc002beq.2	-	16	2836	c.2461G>A	c.(2461-2463)GAG>AAG	p.E821K	RASGRF1_uc002bep.2_Missense_Mutation_p.E805K|RASGRF1_uc010blm.1_Missense_Mutation_p.E730K|RASGRF1_uc002ber.3_Missense_Mutation_p.E805K|RASGRF1_uc010unh.1_Missense_Mutation_p.E216K|RASGRF1_uc002beo.2_Missense_Mutation_p.E37K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	823					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						TCGGGCTTCTCAGGGGTCGTA	0.627		NaN											0	0	0	0.064281	0	34	43				
ALPK3	57538	broad.mit.edu	37	15	85401089	85401089	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:85401089C>T	uc002ble.2	+	6	3893	c.3726C>T	c.(3724-3726)CTC>CTT	p.L1242L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1242					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCGCCGCCTCACCGGCCTCC	0.692		NaN											0	0	0	0.080935	0	8	17				
SYNM	23336	broad.mit.edu	37	15	99671728	99671728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr15:99671728G>A	uc002bup.2	+	6	3283	c.3163G>A	c.(3163-3165)GGA>AGA	p.G1055R	SYNM_uc002buo.2_Missense_Mutation_p.G1055R|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1055	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TGAGGAAGGTGGAGCGGAGGC	0.652		NaN											0	0	0	0.024245	0	12	21				
WDR90	197335	broad.mit.edu	37	16	703802	703802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:703802C>T	uc002cii.1	+	13	1490	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	WDR90_uc002cig.1_Missense_Mutation_p.T479M|WDR90_uc002cih.1_Missense_Mutation_p.T480M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank|WDR90_uc002cil.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	479	WD 2.									ovary(1)	1		Hepatocellular(780;0.0218)				CACGGGAGGACGGTAACAGGG	0.627		NaN											0	0	0	0.058154	0	9	41				
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:4945714G>A	uc002cyd.1	-	10	1066	c.976C>T	c.(976-978)CAC>TAC	p.H326Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	326	Potential.|Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGTCTTCGTGAAACTAGGGG	0.582		NaN											0	0	0	0.048971	0	75	98				
ZC3H7A	29066	broad.mit.edu	37	16	11868313	11868313	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:11868313G>A	uc002dbk.2	-	8	880	c.682C>T	c.(682-684)CAT>TAT	p.H228Y	ZC3H7A_uc002dbl.2_Missense_Mutation_p.H228Y|ZC3H7A_uc002dbm.1_Missense_Mutation_p.H228Y	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	228						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CCAACTTCATGAGAAAAACTG	0.458		NaN											0	0	0	0.048971	0	48	69				
PDILT	204474	broad.mit.edu	37	16	20410611	20410611	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20410611G>A	uc002dhc.1	-	2	235	c.12C>T	c.(10-12)CTC>CTT	p.L4L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	4					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						GGGGCATCCAGAGTAGGTCCA	0.592		NaN											0	0	0	0.083992	0	21	82				
ACSM5	54988	broad.mit.edu	37	16	20430712	20430712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:20430712C>G	uc002dhe.2	+	4	725	c.578C>G	c.(577-579)TCA>TGA	p.S193*	ACSM5_uc002dhd.1_Nonsense_Mutation_p.S193*	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	193					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						CTGCTGGTGTCAGACAGCAGT	0.557		NaN											0	0	0	0.043863	0	19	27				
PRKCB	5579	broad.mit.edu	37	16	24202490	24202490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:24202490G>A	uc002dmd.2	+	16	1999	c.1802G>A	c.(1801-1803)CGG>CAG	p.R601Q	PRKCB_uc002dme.2_Missense_Mutation_p.R601Q	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	601	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	GCATTTTTCCGGTATATTGAT	0.463		NaN											0	0	0	0.009096	0	3	87				
TAOK2	9344	broad.mit.edu	37	16	29999180	29999180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:29999180G>A	uc002dva.1	+	16	4370	c.3587G>A	c.(3586-3588)CGG>CAG	p.R1196Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R1203Q|TAOK2_uc002dvd.1_Missense_Mutation_p.R1023Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1196					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CGAATCCCCCGGCTACTACCA	0.721		NaN											0	0	0	0.014758	0	3	15				
SLC12A3	6559	broad.mit.edu	37	16	56906612	56906612	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:56906612G>C	uc010ccm.2	+	8	1038	c.1009G>C	c.(1009-1011)GAT>CAT	p.D337H	SLC12A3_uc002ekd.3_Missense_Mutation_p.D337H|SLC12A3_uc010ccn.2_Missense_Mutation_p.D336H	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	337					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCGGGGTCCAGATGGCACCTT	0.562		NaN											0	0	0	0.11126	0	41	40				
MMP15	4324	broad.mit.edu	37	16	58071406	58071406	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58071406C>G	uc002ena.2	+	2	1166	c.193C>G	c.(193-195)CAG>GAG	p.Q65E		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	65					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						CTACCTGCCTCAGCCCAGCCG	0.453		NaN											0	0	0	0.047766	0	7	15				
NDRG4	65009	broad.mit.edu	37	16	58537754	58537754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:58537754C>G	uc002eno.2	+	2	180	c.74C>G	c.(73-75)TCC>TGC	p.S25C	NDRG4_uc002enk.2_Missense_Mutation_p.S57C|NDRG4_uc002enm.2_Missense_Mutation_p.S77C|NDRG4_uc010vif.1_Missense_Mutation_p.S57C|NDRG4_uc010cdk.2_Missense_Mutation_p.S25C|NDRG4_uc010vig.1_Missense_Mutation_p.S55C|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.S43C|NDRG4_uc002enp.2_Missense_Mutation_p.S25C|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	25					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						ATCCGGGGCTCCCCCAAGGGG	0.622		NaN											0	0	0	0.080935	0	10	71				
TK2	7084	broad.mit.edu	37	16	66584022	66584022	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:66584022G>C	uc002eos.2	-	1	294	c.69C>G	c.(67-69)GTC>GTG	p.V23V	TK2_uc010vip.1_5'Flank|TK2_uc002eor.2_Intron|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_5'UTR|TK2_uc010viq.1_Silent_p.V23V|TK2_uc010vir.1_Silent_p.V23V	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	Error:Variant_position_missing_in_O00142_after_alignment					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CGGCGCGGACGACTGCTAGTC	0.682		NaN											0	0	0	0.049695	0	17	16				
EDC4	23644	broad.mit.edu	37	16	67915727	67915727	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67915727G>C	uc002eur.2	+	22	3149	c.2983G>C	c.(2983-2985)GAG>CAG	p.E995Q	EDC4_uc010cer.2_Missense_Mutation_p.E614Q|EDC4_uc002eus.2_Missense_Mutation_p.E725Q|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	995	Potential.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACGTGCCCTTGAGACTCGGCA	0.602		NaN											0	0	0	0.054565	0	33	101				
CTRL	1506	broad.mit.edu	37	16	67964633	67964633	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:67964633G>A	uc002euw.2	-	4	324	c.314C>T	c.(313-315)TCT>TTT	p.S105F		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	105	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ACTCACCCGAGAGACGGACAG	0.607		NaN											0	0	0	0.080422	0	38	147				
ZFHX3	463	broad.mit.edu	37	16	72923775	72923775	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:72923775G>C	uc002fck.2	-	4	3976	c.3303C>G	c.(3301-3303)CTC>CTG	p.L1101L	ZFHX3_uc002fcl.2_Silent_p.L187L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1101	C2H2-type 9; atypical.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGATGAGGTTGAGCTTGGCCT	0.572		NaN											0	0	0	0.09319	0	12	119				
PKD1L2	114780	broad.mit.edu	37	16	81194452	81194452	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:81194452C>A	uc002fgh.1	-	22	3536	c.3536G>T	c.(3535-3537)AGT>ATT	p.S1179I	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1179	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCTTCAGGACTGGTCAGGTT	0.552		NaN											1	0	4.68919e-08	0.069234	4.84313e-08	9	32				
KIAA0182	23199	broad.mit.edu	37	16	85701811	85701811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:85701811C>G	uc002fix.2	+	14	3270	c.3196C>G	c.(3196-3198)CCT>GCT	p.P1066A	KIAA0182_uc002fiw.2_Missense_Mutation_p.P962A|KIAA0182_uc002fiy.2_Missense_Mutation_p.P993A|KIAA0182_uc002fiz.2_Missense_Mutation_p.P208A|KIAA0182_uc010cho.2_Missense_Mutation_p.P246A	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1066							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CTACAACATTCCTGAGCTGCA	0.637		NaN											0	0	0	0.039052	0	43	109				
FANCA	2175	broad.mit.edu	37	16	89805349	89805349	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr16:89805349G>C	uc002fou.1	-	42	4243	c.4201C>G	c.(4201-4203)CTT>GTT	p.L1401V	ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1402C	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1401					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCAGAAAAAGACGAGCTTTT	0.512		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.048971	0	70	63				
C17orf85	55421	broad.mit.edu	37	17	3721711	3721711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:3721711G>A	uc010ckl.1	-	10	1179	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	C17orf85_uc002fwr.2_Missense_Mutation_p.R96W|C17orf85_uc002fwq.2_Missense_Mutation_p.R106W	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	386							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GACGCGCTCCGCTCCCGGGGC	0.473		NaN											0	0	0	0.069456	0	33	93				
ZNF594	84622	broad.mit.edu	37	17	5085754	5085754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:5085754C>G	uc010cla.1	-	2	1954	c.1798G>C	c.(1798-1800)GAA>CAA	p.E600Q		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	600	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTCCCACATTCTTTGCATTCA	0.408		NaN											0	0	0	0.048971	0	175	136				
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:7578449C>T	uc002gim.2	-	5	675	c.481G>A	c.(481-483)GCC>ACC	p.A161T	TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.2_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.1_Missense_Mutation_p.A122T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	161	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A161G(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTAGATGGCCATGGCGCGG	0.632		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.09836	0	40	39		Valid		
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16285788C>T	uc002gpx.2	+	2	705	c.567C>T	c.(565-567)CCC>CCT	p.P189P	UBB_uc010vwe.1_Silent_p.P113P	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552		NaN											0	0	0	0.004672	0	3	65				
CCDC144A	9720	broad.mit.edu	37	17	16623915	16623915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:16623915C>T	uc002gqk.1	+	8	1910	c.1834C>T	c.(1834-1836)CAC>TAC	p.H612Y	CCDC144A_uc002gql.1_Missense_Mutation_p.H82Y|LOC162632_uc010cpj.1_RNA	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	612											0						TGAATTGTCTCACTCTGTTTA	0.373		NaN											0	0	0	0.02938	0	5	40				
DRG2	1819	broad.mit.edu	37	17	18004839	18004839	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18004839G>C	uc002gsh.1	+	8	719	c.664G>C	c.(664-666)GAC>CAC	p.D222H	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.D222H	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	222					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TTTCCGAGAAGACTGCTCCCC	0.607		NaN											0	0	0	0.054565	0	31	45				
DRG2	1819	broad.mit.edu	37	17	18005268	18005268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18005268G>A	uc002gsh.1	+	9	818	c.763G>A	c.(763-765)GAG>AAG	p.E255K	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E255K	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	255					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					CTCCATGGAAGAGGTGGACCG	0.567		NaN											0	0	0	0.038395	0	16	8				
CCDC144B	284047	broad.mit.edu	37	17	18498091	18498091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:18498091G>A	uc002gub.1	-	8	1919	c.1834C>T	c.(1834-1836)CAC>TAC	p.H612Y	CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2						TAAACAGAGTGAGACAATTCA	0.373		NaN											0	0	0	0.038147	0	6	50				
SSH2	85464	broad.mit.edu	37	17	27975200	27975200	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:27975200C>G	uc002heo.1	-	13	1308	c.1308G>C	c.(1306-1308)ATG>ATC	p.M436I	SSH2_uc010wbh.1_Missense_Mutation_p.M463I|SSH2_uc002hep.1_Missense_Mutation_p.M436I	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	436	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CCAGTTGTCTCATGAAGCTTG	0.458		NaN											0	0	0	0.048971	0	70	151				
AMAC1	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:33520323C>T	uc002hjd.2	-	1	1090	c.1004G>A	c.(1003-1005)AGG>AAG	p.R335K		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	335						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		CTCCTCCACCCTCCCTGTCCT	0.557		NaN											0	0	0	0.004672	0	3	80				
ERBB2	2064	broad.mit.edu	37	17	37868216	37868216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:37868216C>G	uc002hso.2	+	8	1175	c.937C>G	c.(937-939)CTC>GTC	p.L313V	ERBB2_uc002hsm.2_Missense_Mutation_p.L283V|ERBB2_uc010cwa.2_Missense_Mutation_p.L298V|ERBB2_uc002hsp.2_Missense_Mutation_p.L116V|ERBB2_uc010cwb.2_Missense_Mutation_p.L313V|ERBB2_uc010wek.1_Missense_Mutation_p.L37V|ERBB2_uc002hsl.2_Missense_Mutation_p.L283V|ERBB2_uc002hsn.1_Missense_Mutation_p.L313V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	313	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCCTGCACCCTCGTCTGCCC	0.572		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.048971	0	837	31		Valid		
ANKRD40	91369	broad.mit.edu	37	17	48776867	48776867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:48776867G>C	uc002iso.2	-	3	926	c.671C>G	c.(670-672)CCG>CGG	p.P224R		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	224	Pro-rich.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGCTTGGACGGGACAGAAGA	0.527		NaN											0	0	0	0.054565	0	27	94				
TEX14	56155	broad.mit.edu	37	17	56671019	56671019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:56671019G>A	uc010dcz.1	-	15	2609	c.2491C>T	c.(2491-2493)CCG>TCG	p.P831S	TEX14_uc002iwr.1_Missense_Mutation_p.P825S|TEX14_uc002iws.1_Missense_Mutation_p.P825S|TEX14_uc010dda.1_Missense_Mutation_p.P605S	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	831						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAGAGTCGGCAGCTTAAAA	0.408		NaN											0	0	0	0.009096	0	4	81				
KCNH6	81033	broad.mit.edu	37	17	61611504	61611504	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:61611504C>T	uc002jay.2	+	5	1013	c.933C>T	c.(931-933)TTC>TTT	p.F311F	KCNH6_uc002jax.1_Silent_p.F311F|KCNH6_uc010wpl.1_Silent_p.F188F|KCNH6_uc010wpm.1_Silent_p.F311F|KCNH6_uc002jaz.1_Silent_p.F311F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	311	Helical; Name=Segment S2; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	ACATCATGTTCGTCGTGGACA	0.587		NaN											0	0	0	0.099896	0	24	353				
ABCA10	10349	broad.mit.edu	37	17	67178946	67178946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:67178946G>C	uc010dfa.1	-	22	3380	c.2501C>G	c.(2500-2502)TCA>TGA	p.S834*	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Nonsense_Mutation_p.S435*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	834					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TTCAATATTTGATCCTAACAT	0.333		NaN											0	0	0	0.038147	0	8	47				
DNAI2	64446	broad.mit.edu	37	17	72297252	72297252	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:72297252A>G	uc002jkf.2	+	8	1031	c.932A>G	c.(931-933)AAG>AGG	p.K311R	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	311					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						ATCACCAAGAAGGAACAGTTG	0.547		NaN							Kartagener_syndrome				0	0	0	0.048971	0	103	172				
EIF4A3	9775	broad.mit.edu	37	17	78118038	78118038	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:78118038C>G	uc010wuc.1	-	3	248	c.175G>C	c.(175-177)GAA>CAA	p.E59Q	EIF4A3_uc002jxs.2_Missense_Mutation_p.E59Q	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	59	Q motif.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GATGGTTTTTCAAAACCTGCA	0.378		NaN											0	0	0	0.02938	0	7	70				
AZI1	22994	broad.mit.edu	37	17	79164797	79164797	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164797C>G	uc002jzp.1	-	23	3062	c.2862G>C	c.(2860-2862)CTG>CTC	p.L954L	AZI1_uc002jzm.1_Silent_p.L386L|AZI1_uc002jzn.1_Silent_p.L951L|AZI1_uc002jzo.1_Silent_p.L915L|AZI1_uc010wum.1_Silent_p.L918L|AZI1_uc002jzq.2_Silent_p.L102L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	954					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTGGCCCTTCAGCTCCGAGC	0.677		NaN											0	0	0	0.020292	0	13	55				
AZI1	22994	broad.mit.edu	37	17	79164838	79164838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79164838C>G	uc002jzp.1	-	23	3021	c.2821G>C	c.(2821-2823)GAG>CAG	p.E941Q	AZI1_uc002jzm.1_Missense_Mutation_p.E373Q|AZI1_uc002jzn.1_Missense_Mutation_p.E938Q|AZI1_uc002jzo.1_Missense_Mutation_p.E902Q|AZI1_uc010wum.1_Missense_Mutation_p.E905Q|AZI1_uc002jzq.2_Missense_Mutation_p.E89Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	941					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCGACTGCTCCAGCTCGGAG	0.662		NaN											0	0	0	0.049695	0	20	76				
AZI1	22994	broad.mit.edu	37	17	79165108	79165108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165108C>T	uc002jzp.1	-	22	2859	c.2659G>A	c.(2659-2661)GAG>AAG	p.E887K	AZI1_uc002jzm.1_Missense_Mutation_p.E319K|AZI1_uc002jzn.1_Missense_Mutation_p.E884K|AZI1_uc002jzo.1_Missense_Mutation_p.E848K|AZI1_uc010wum.1_Missense_Mutation_p.E851K|AZI1_uc002jzq.2_Missense_Mutation_p.E35K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	887					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCTCAGCTCCTGTTCCCGG	0.677		NaN											0	0	0	0.050027	0	33	94				
AZI1	22994	broad.mit.edu	37	17	79165121	79165121	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:79165121C>T	uc002jzp.1	-	22	2846	c.2646G>A	c.(2644-2646)CTG>CTA	p.L882L	AZI1_uc002jzm.1_Silent_p.L314L|AZI1_uc002jzn.1_Silent_p.L879L|AZI1_uc002jzo.1_Silent_p.L843L|AZI1_uc010wum.1_Silent_p.L846L|AZI1_uc002jzq.2_Silent_p.L30L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	882					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTCCCGGTTCAGCAGCCACG	0.701		NaN											0	0	0	0.083992	0	23	77				
FASN	2194	broad.mit.edu	37	17	80053331	80053331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:80053331G>A	uc002kdu.2	-	3	262	c.145C>T	c.(145-147)CGG>TGG	p.R49W		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	49	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGGACCGCCGGGGCAGGCCG	0.652		NaN											0	0	0	0.074837	0	32	29				
ZNF519	162655	broad.mit.edu	37	18	14105771	14105771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:14105771C>G	uc002kst.1	-	3	921	c.768G>C	c.(766-768)AAG>AAC	p.K256N	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTTAATTATCTTATGTCCCT	0.328		NaN											0	0	0	0.020292	0	15	10				
ELP2	55250	broad.mit.edu	37	18	33722264	33722264	+	Silent	SNP	C	C	G	rs142567516		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:33722264C>G	uc002kzk.1	+	7	619	c.609C>G	c.(607-609)CTC>CTG	p.L203L	ELP2_uc010xcg.1_Silent_p.L268L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.L177L|ELP2_uc010xch.1_Silent_p.L242L|ELP2_uc002kzn.1_Silent_p.L177L|ELP2_uc002kzo.1_Intron	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	203					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TGCTTTCTCTCTGTGGACATG	0.373		NaN											0	0	0	0.0333	0	16	85				
KIAA1632	57724	broad.mit.edu	37	18	43450556	43450556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:43450556C>G	uc002lbm.2	-	36	6301	c.6201G>C	c.(6199-6201)CAG>CAC	p.Q2067H	KIAA1632_uc010xcq.1_Missense_Mutation_p.Q621H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q942H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2067					autophagy						0						CCATGAGCATCTGGTCAGGGT	0.517		NaN											0	0	0	0.058154	0	9	30				
TXNL1	9352	broad.mit.edu	37	18	54291545	54291545	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr18:54291545C>G	uc002lgg.2	-	3	592	c.343G>C	c.(343-345)GAG>CAG	p.E115Q	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.E115Q|TXNL1_uc002lgj.1_Missense_Mutation_p.E115Q	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	115	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCTGTGTCCTCATTGCTTCCA	0.333		NaN											0	0	0	0.054565	0	34	143				
ZNF555	148254	broad.mit.edu	37	19	2853300	2853300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:2853300G>A	uc002lwo.2	+	4	1326	c.1237G>A	c.(1237-1239)GGA>AGA	p.G413R	ZNF555_uc002lwn.3_Missense_Mutation_p.G412R	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	413	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTTTCGAGGACACATGAG	0.473		NaN											0	0	0	0.009096	0	4	62				
MUC16	94025	broad.mit.edu	37	19	9067796	9067796	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:9067796C>T	uc002mkp.2	-	3	19854	c.19650G>A	c.(19648-19650)GTG>GTA	p.V6550V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6552	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTGGTCTTCACTAGGCCAG	0.483		NaN											0	0	0	0.049695	0	20	15				
ICAM1	3383	broad.mit.edu	37	19	10394842	10394842	+	Missense_Mutation	SNP	G	G	C	rs139628843		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:10394842G>C	uc002mnq.2	+	4	1090	c.771G>C	c.(769-771)CAG>CAC	p.Q257H	ICAM1_uc010xle.1_Missense_Mutation_p.Q35H|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	257	Ig-like C2-type 3.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGGGGACCAGAGGTTGAACC	0.657		NaN											0	0	0	0.02938	0	6	75				
SMARCA4	6597	broad.mit.edu	37	19	11123726	11123726	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:11123726C>T	uc002mqf.3	+	16	2660	c.2376C>T	c.(2374-2376)CTC>CTT	p.L792L	SMARCA4_uc010dxp.2_Silent_p.L792L|SMARCA4_uc010dxo.2_Silent_p.L792L|SMARCA4_uc002mqg.1_Silent_p.L792L|SMARCA4_uc010dxq.2_Silent_p.L792L|SMARCA4_uc010dxr.2_Silent_p.L792L|SMARCA4_uc002mqj.3_Silent_p.L792L|SMARCA4_uc010dxs.2_Silent_p.L792L|SMARCA4_uc010dxt.1_Silent_p.L12L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	792	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATCGCGCTCATCACGTACC	0.582		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.045705	0	31	31				
CYP4F12	66002	broad.mit.edu	37	19	15794481	15794481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:15794481C>T	uc002nbl.2	+	7	887	c.826C>T	c.(826-828)CGC>TGC	p.R276C		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					GGAGCGGCGTCGCACCCTCCC	0.532		NaN											0	0	0	0.048971	0	54	118				
CYP4F2	8529	broad.mit.edu	37	19	16001184	16001184	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:16001184G>A	uc002nbs.1	-	6	635	c.585C>T	c.(583-585)ATC>ATT	p.I195I	CYP4F2_uc010xot.1_Silent_p.I46I|CYP4F2_uc010xou.1_Silent_p.I46I	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	195					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TCATGAGGCTGATGTGCTCAA	0.542		NaN											0	0	0	0.048971	0	68	69				
GMIP	51291	broad.mit.edu	37	19	19741332	19741332	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:19741332C>G	uc002nnd.2	-	20	2604	c.2487G>C	c.(2485-2487)CAG>CAC	p.Q829H	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.Q803H|GMIP_uc010xrc.1_Missense_Mutation_p.Q800H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	829					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCTGGTCACTCTGTGGAGTTG	0.542		NaN											0	0	0	0.048971	0	71	46				
WDR62	284403	broad.mit.edu	37	19	36562497	36562497	+	Missense_Mutation	SNP	A	A	G	rs146229976	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36562497A>G	uc002odc.2	+	8	1013	c.922A>G	c.(922-924)ATC>GTC	p.I308V	WDR62_uc002odd.2_Missense_Mutation_p.I308V|WDR62_uc002odb.2_Missense_Mutation_p.I308V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	308	WD 4.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGGAGCTCATCTTCTGTGG	0.592		NaN											0	0	0	0.02938	0	7	168				
WDR62	284403	broad.mit.edu	37	19	36574043	36574043	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:36574043G>A	uc002odc.2	+	11	1541	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	WDR62_uc002odd.2_Missense_Mutation_p.E484K	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	484					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGGGAGCGAGAATGGGAC	0.597		NaN											0	0	0	0.004672	0	3	36				
ACTN4	81	broad.mit.edu	37	19	39220017	39220017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39220017G>A	uc002oja.1	+	21	2740	c.2681G>A	c.(2680-2682)GGT>GAT	p.G894D	ACTN4_uc002ojb.1_Missense_Mutation_p.G216D	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	894					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGTGCCCGGTGCCCTCGAC	0.672		NaN											0	0	0	0.069234	0	10	39				
SARS2	54938	broad.mit.edu	37	19	39421110	39421110	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:39421110G>A	uc002oka.2	-	1	427	c.267C>T	c.(265-267)ATC>ATT	p.I89I	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Silent_p.I89I|SARS2_uc002okb.2_Silent_p.I89I|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Silent_p.I89I|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	89					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCGCACTCACGATCGCGGGCA	0.662		NaN									OREG0032101|OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.039052	0	39	175				
RTN2	6253	broad.mit.edu	37	19	45997499	45997499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:45997499C>G	uc002pcb.2	-	4	967	c.739G>C	c.(739-741)GAG>CAG	p.E247Q	RTN2_uc002pcc.2_Missense_Mutation_p.E247Q|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	247						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGCTCTCGCTCCAGTGGCCCC	0.577		NaN											0	0	0	0.048971	0	154	78				
CGB7	94027	broad.mit.edu	37	19	49558233	49558233	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:49558233G>A	uc002pmd.2	-	2	413	c.48C>T	c.(46-48)GGC>GGT	p.G16G	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Silent_p.G16G	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	16					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CCCATGTCCCGCCCATGCTCA	0.667		NaN											0	0	0	0.048971	0	61	25				
POLD1	5424	broad.mit.edu	37	19	50921177	50921177	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:50921177C>G	uc002psb.3	+	27	3353	c.3297C>G	c.(3295-3297)TTC>TTG	p.F1099L	POLD1_uc002psc.3_Missense_Mutation_p.F1099L|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.F1125L|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	1099					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCGGCGCTTCGGACCCCCTG	0.622		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.058154	0	8	11				
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:51957508C>G	uc002pwt.2	-	6	1277	c.1210G>C	c.(1210-1212)GAA>CAA	p.E404Q	SIGLEC8_uc010yda.1_Missense_Mutation_p.E295Q|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311Q	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	404	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597		NaN											0	0	0	0.076483	0	21	143				
ZNF28	7576	broad.mit.edu	37	19	53303274	53303274	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr19:53303274C>T	uc002qad.2	-	4	1944	c.1824G>A	c.(1822-1824)AAG>AAA	p.K608K	ZNF28_uc002qac.2_Silent_p.K555K|ZNF28_uc010eqe.2_Silent_p.K554K	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	608	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACTCATTACACTTGTAAGGTT	0.448		NaN											0	0	0	0.048971	0	196	98				
GREB1	9687	broad.mit.edu	37	2	11773124	11773124	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:11773124G>A	uc002rbk.1	+	28	5226	c.4926G>A	c.(4924-4926)GTG>GTA	p.V1642V	GREB1_uc002rbp.1_Silent_p.V640V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1642						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTCATTGTGATCTCTGATG	0.562		NaN											0	0	0	0.048971	0	47	74				
RAD51AP2	729475	broad.mit.edu	37	2	17698327	17698327	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:17698327G>C	uc002rcl.1	-	1	1380	c.1356C>G	c.(1354-1356)ATC>ATG	p.I452M	RAD51AP2_uc010exn.1_Missense_Mutation_p.I443M	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	452										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCATTGATGACTTTTG	0.313		NaN											0	0	0	0.099896	0	27	41				
PUM2	23369	broad.mit.edu	37	2	20511319	20511319	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:20511319C>A	uc002rds.1	-	4	477	c.454G>T	c.(454-456)GAT>TAT	p.D152Y	PUM2_uc002rdt.1_Missense_Mutation_p.D152Y|PUM2_uc002rdr.2_Missense_Mutation_p.D91Y|PUM2_uc010yjy.1_Missense_Mutation_p.D152Y|PUM2_uc002rdu.1_Missense_Mutation_p.D152Y|PUM2_uc010yjz.1_Missense_Mutation_p.D91Y	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	152	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGAATCATCATCATCTCCT	0.378		NaN											1	0	6.00712e-18	0.050027	6.33225e-18	33	65				
CRIM1	51232	broad.mit.edu	37	2	36744610	36744610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:36744610G>C	uc002rpd.2	+	12	2170	c.2131G>C	c.(2131-2133)GAG>CAG	p.E711Q		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	711	VWFC 4.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGTGCTGTGTGAGACAGAGGT	0.582		NaN											0	0	0	0.020292	0	9	95				
HAAO	23498	broad.mit.edu	37	2	42995022	42995022	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:42995022A>T	uc002rst.3	-	8	752	c.677T>A	c.(676-678)GTG>GAG	p.V226E		NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	226	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1						CCACACGTCCACATTCTGTCT	0.632		NaN											0	0	0	0.048971	0	50	58				
PLEKHH2	130271	broad.mit.edu	37	2	43939476	43939476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:43939476C>T	uc010yny.1	+	15	2497	c.2414C>T	c.(2413-2415)TCC>TTC	p.S805F	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S804F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	805						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACCCACTTTCCCTGCAGCCT	0.478		NaN											0	0	0	0.048971	0	51	49				
EPAS1	2034	broad.mit.edu	37	2	46608758	46608758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:46608758G>A	uc002ruv.2	+	13	2557	c.2069G>A	c.(2068-2070)CGA>CAA	p.R690Q	EPAS1_uc002ruw.2_Missense_Mutation_p.R156Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	690					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGGGGCTCGAGGCCCAGAC	0.597		NaN											0	0	0	0.076483	0	24	62				
RPS27A	6233	broad.mit.edu	37	2	55461976	55461976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:55461976C>G	uc010yow.1	+	5	396	c.199C>G	c.(199-201)CTT>GTT	p.L67V	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.L67V|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	NM_001135592	NP_001129064	P62979	RS27A_HUMAN	ubiquitin and ribosomal protein S27a precursor	67	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			ovary(1)	1						GGAGTCTACTCTTCATCTTGT	0.398		NaN											0	0	0	0.043863	0	17	81				
C1D	10438	broad.mit.edu	37	2	68273488	68273488	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:68273488A>T	uc002sea.3	-	3	275	c.193T>A	c.(193-195)TCA>ACA	p.S65T	C1D_uc002seb.2_Missense_Mutation_p.S65T|C1D_uc002sec.2_Missense_Mutation_p.S65T|C1D_uc010fdc.2_Missense_Mutation_p.S65T	NM_173177	NP_775269	Q13901	C1D_HUMAN	nuclear DNA-binding protein	65	Required for transcriptional repression (By similarity).|Interaction with NR1D1 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding				0						CAAAACATTGAATTTAATGTG	0.224		NaN											0	0	0	0.105934	0	13	25				
ARID5A	10865	broad.mit.edu	37	2	97216890	97216890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:97216890C>T	uc002swe.2	+	7	725	c.625C>T	c.(625-627)CAG>TAG	p.Q209*	ARID5A_uc010yuq.1_Nonsense_Mutation_p.Q157*|ARID5A_uc002swf.2_Nonsense_Mutation_p.Q45*|ARID5A_uc002swg.2_Nonsense_Mutation_p.Q157*	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	209					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						ACTTCCCAGCCAGGAGCCCCC	0.597		NaN											0	0	0	0.048971	0	73	117				
MARCO	8685	broad.mit.edu	37	2	119750864	119750864	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:119750864A>G	uc002tln.1	+	16	1549	c.1417A>G	c.(1417-1419)AAA>GAA	p.K473E	MARCO_uc010yyf.1_Missense_Mutation_p.K395E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	473	SRCR.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGCCCTGTACAAAGTGGGAGC	0.557		NaN											0	0	0	0.048971	0	53	78				
GLI2	2736	broad.mit.edu	37	2	121732608	121732608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:121732608G>C	uc010flp.2	+	8	1321	c.1291G>C	c.(1291-1293)GAG>CAG	p.E431Q	GLI2_uc002tmq.1_Missense_Mutation_p.E103Q|GLI2_uc002tmr.1_Missense_Mutation_p.E86Q|GLI2_uc002tmt.3_Missense_Mutation_p.E103Q|GLI2_uc002tmu.3_Missense_Mutation_p.E86Q|GLI2_uc010flo.1_Missense_Mutation_p.E289Q|GLI2_uc002tmw.1_Missense_Mutation_p.E414Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	431					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCAGGAGGCTGAGGTGGTCAT	0.577		NaN											0	0	0	0.069456	0	34	59				
MKI67IP	84365	broad.mit.edu	37	2	122486097	122486097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:122486097C>T	uc002tnk.2	-	5	657	c.580G>A	c.(580-582)GAA>AAA	p.E194K	uc002tnj.1_RNA	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	194					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GAAATACTTTCCGTTTTCTGT	0.274		NaN											0	0	0	0.0333	0	14	58				
PRPF40A	55660	broad.mit.edu	37	2	153519641	153519641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:153519641C>T	uc002tyh.3	-	20	2156	c.2134G>A	c.(2134-2136)GAG>AAG	p.E712K	PRPF40A_uc002tyg.3_Missense_Mutation_p.E168K|PRPF40A_uc010zcd.1_Missense_Mutation_p.E663K	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	739					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TTCCGAGCCTCTTCTTTTTCT	0.348		NaN											0	0	0	0.058154	0	10	16				
LRP2	4036	broad.mit.edu	37	2	170127522	170127522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:170127522C>T	uc002ues.2	-	16	2425	c.2212G>A	c.(2212-2214)GGG>AGG	p.G738R	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	738	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAAGGATTCCCCGAAACTGGA	0.408		NaN											0	0	0	0.02938	0	6	27				
GPR155	151556	broad.mit.edu	37	2	175335161	175335161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:175335161C>G	uc002uit.2	-	5	1374	c.983G>C	c.(982-984)GGA>GCA	p.G328A	GPR155_uc002uiu.2_Missense_Mutation_p.G328A|GPR155_uc002uiv.2_Missense_Mutation_p.G328A|GPR155_uc010fqs.2_Missense_Mutation_p.G328A	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	328	Helical; (Potential).				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						GATAGCCACTCCTGGTGCTAC	0.358		NaN											0	0	0	0.028581	0	15	21				
TTC30A	92104	broad.mit.edu	37	2	178483399	178483399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:178483399C>T	uc002ulo.2	-	1	296	c.31G>A	c.(31-33)GAC>AAC	p.D11N		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	11	TPR 1.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AACTCCCCGTCGGGGATCTGC	0.667		NaN											0	0	0	0.004672	0	3	8				
DNAH7	56171	broad.mit.edu	37	2	196605504	196605504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:196605504C>G	uc002utj.3	-	64	11955	c.11854G>C	c.(11854-11856)GAT>CAT	p.D3952H	DNAH7_uc002uti.3_Missense_Mutation_p.D435H	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3952					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GGCACTGTATCATAAAGAATT	0.284		NaN											0	0	0	0.043863	0	18	55				
INO80D	54891	broad.mit.edu	37	2	206872011	206872011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:206872011C>T	uc002vaz.3	-	10	2320	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	639					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						ACTATACCTTCAAAAAAATCA	0.348		NaN											0	0	0	0.043863	0	19	41				
CYP27A1	1593	broad.mit.edu	37	2	219679423	219679423	+	Silent	SNP	C	C	G	rs138596741		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:219679423C>G	uc002viz.3	+	8	1853	c.1419C>G	c.(1417-1419)GTC>GTG	p.V473V		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	473					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GCTATGGGGTCCGGGCCTGCC	0.637		NaN											0	0	0	0.020292	0	13	32				
INHA	3623	broad.mit.edu	37	2	220439960	220439960	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220439960C>T	uc002vmk.1	+	2	957	c.813C>T	c.(811-813)TTC>TTT	p.F271F		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	271					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACATCTCCTTCCAGGAGCTGG	0.607		NaN											0	0	0	0.034045	0	27	66				
STK11IP	114790	broad.mit.edu	37	2	220466159	220466159	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:220466159C>G	uc002vml.2	+	3	340	c.297C>G	c.(295-297)CTC>CTG	p.L99L	STK11IP_uc010zlj.1_Silent_p.L88L|STK11IP_uc010zlk.1_Silent_p.L88L|STK11IP_uc010zll.1_Silent_p.L88L|STK11IP_uc002vmm.1_Silent_p.L88L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	99					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTTTCACTCAAGGTTCTGG	0.542		NaN											0	0	0	0.024245	0	14	31				
C20orf71	128861	broad.mit.edu	37	20	31805357	31805357	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:31805357C>T	uc002wyr.2	+	1	223	c.15C>T	c.(13-15)CTC>CTT	p.L5L	C20orf71_uc002wys.2_Silent_p.L5L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	5						extracellular region	lipid binding			ovary(1)|skin(1)	2						TGTGTCCACTCTGGAGGCTCC	0.592		NaN											0	0	0	0.076483	0	25	86				
EPB41L1	2036	broad.mit.edu	37	20	34797659	34797659	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:34797659C>G	uc002xfb.2	+	15	2089	c.1918C>G	c.(1918-1920)CTG>GTG	p.L640V	EPB41L1_uc002xeu.2_Missense_Mutation_p.L566V|EPB41L1_uc010zvo.1_Missense_Mutation_p.L640V|EPB41L1_uc002xev.2_Missense_Mutation_p.L640V|EPB41L1_uc002xew.2_Missense_Mutation_p.L531V|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.L566V|EPB41L1_uc010gfq.2_Missense_Mutation_p.L739V	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	640					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CTCCCGCAGCCTGCCTGAGCT	0.612		NaN											0	0	0	0.045705	0	31	64				
SAMHD1	25939	broad.mit.edu	37	20	35521386	35521386	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:35521386G>A	uc002xgh.1	-	16	1960	c.1830C>T	c.(1828-1830)CTC>CTT	p.L610L	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	610					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				ATGCTTCTCGGAGGCGAGTTG	0.428		NaN											0	0	0	0.048971	0	93	163				
YWHAB	7529	broad.mit.edu	37	20	43535062	43535062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:43535062G>A	uc002xmt.2	+	7	1006	c.724G>A	c.(724-726)GGG>AGG	p.G242R	YWHAB_uc002xmu.2_Missense_Mutation_p.G242R	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	242					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				AGGAGACGCTGGGGAGGGAGA	0.438		NaN											0	0	0	0.080422	0	34	82				
STAU1	6780	broad.mit.edu	37	20	47734529	47734529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:47734529G>C	uc002xud.2	-	11	1705	c.1294C>G	c.(1294-1296)CAA>GAA	p.Q432E	STAU1_uc002xua.2_Missense_Mutation_p.Q351E|STAU1_uc002xub.2_Missense_Mutation_p.Q357E|STAU1_uc002xuc.2_Missense_Mutation_p.Q351E|STAU1_uc002xue.2_Missense_Mutation_p.Q351E|STAU1_uc002xuf.2_Missense_Mutation_p.Q357E|STAU1_uc002xug.2_Missense_Mutation_p.Q432E	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	432						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGATGTCCTTGACTAACTCCT	0.532		NaN											0	0	0	0.048971	0	55	142				
NFATC2	4773	broad.mit.edu	37	20	50049280	50049280	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:50049280C>T	uc002xwd.2	-	9	2266	c.2046G>A	c.(2044-2046)AAG>AAA	p.K682K	NFATC2_uc002xwc.2_Silent_p.K682K|NFATC2_uc010zyv.1_Silent_p.K463K|NFATC2_uc010zyw.1_Silent_p.K463K|NFATC2_uc010zyx.1_Silent_p.K662K|NFATC2_uc010zyy.1_Silent_p.K463K|NFATC2_uc010zyz.1_Silent_p.K463K|NFATC2_uc002xwe.2_Silent_p.K662K	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	682					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TGGGCTCCGTCTTGATGGCTG	0.612		NaN											0	0	0	0.038395	0	18	93				
CASS4	57091	broad.mit.edu	37	20	55027048	55027048	+	Silent	SNP	C	C	G	rs143746875		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:55027048C>G	uc002xxp.2	+	6	1041	c.816C>G	c.(814-816)CTC>CTG	p.L272L	CASS4_uc002xxq.3_Silent_p.L272L|CASS4_uc002xxr.2_Silent_p.L272L|CASS4_uc010zze.1_Silent_p.L218L|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	272					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CCCACGCTCTCCCCAGTTCCA	0.517		NaN											0	0	0	0.054565	0	33	49				
RTEL1	51750	broad.mit.edu	37	20	62324319	62324319	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:62324319C>G	uc002yfu.1	+	29	3157	c.2814C>G	c.(2812-2814)CTC>CTG	p.L938L	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.L938L|RTEL1_uc011abd.1_Silent_p.L962L|RTEL1_uc011abe.1_Silent_p.L715L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.L183L|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	938					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCGGCCCCCTCTTTGCTGAGG	0.657		NaN											0	0	0	0.048971	0	58	186				
KRTAP13-1	140258	broad.mit.edu	37	21	31768802	31768802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:31768802G>A	uc002yoa.2	+	1	411	c.398G>A	c.(397-399)GGA>GAA	p.G133E		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	133						intermediate filament				ovary(1)	1						CTGGGTTATGGAGGCTGTGGC	0.582		NaN											0	0	0	0.076483	0	23	12				
SYNJ1	8867	broad.mit.edu	37	21	34012014	34012014	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34012014C>T	uc002yqh.2	-	30	3781	c.3781G>A	c.(3781-3783)GAA>AAA	p.E1261K	SYNJ1_uc011ads.1_Missense_Mutation_p.E1175K|SYNJ1_uc002yqf.2_Missense_Mutation_p.E1206K|SYNJ1_uc002yqg.2_Missense_Mutation_p.E1175K|SYNJ1_uc002yqi.2_Missense_Mutation_p.E1261K|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1222	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CTTTGGCTTTCAGGAGTCAGT	0.363		NaN											0	0	0	0.076483	0	21	54				
IL10RB	3588	broad.mit.edu	37	21	34640751	34640751	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:34640751C>G	uc002yrk.1	+	2	201	c.102C>G	c.(100-102)TTC>TTG	p.F34L	IL10RB_uc002yrh.1_Missense_Mutation_p.F104L|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Missense_Mutation_p.F36L	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	34	Extracellular (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						CTGTTAATTTCAAGAACATTC	0.418		NaN											0	0	0	0.0918	0	26	129				
CLIC6	54102	broad.mit.edu	37	21	36079652	36079652	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:36079652C>T	uc010gmt.1	+	3	1503	c.1503C>T	c.(1501-1503)GGC>GGT	p.G501G	CLIC6_uc002yuf.1_Silent_p.G483G	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	501	Helical; Note=After insertion into the membrane; (Potential).					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						GGCTGAAAGGCGTTATATTTA	0.393		NaN											0	0	0	0.048971	0	52	64				
TTC3	7267	broad.mit.edu	37	21	38538204	38538204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:38538204C>T	uc002yvz.2	+	33	3793	c.3688C>T	c.(3688-3690)CCA>TCA	p.P1230S	TTC3_uc011aee.1_Missense_Mutation_p.P920S|TTC3_uc002ywa.2_Missense_Mutation_p.P1230S|TTC3_uc002ywb.2_Missense_Mutation_p.P1230S|TTC3_uc010gnf.2_Missense_Mutation_p.P995S|TTC3_uc002ywc.2_Missense_Mutation_p.P920S|TTC3_uc002ywd.1_Missense_Mutation_p.P294S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1230					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				ATCTTCAGCACCAGCTTTTGA	0.428		NaN											0	0	0	0.038147	0	7	38				
DSCAM	1826	broad.mit.edu	37	21	41459119	41459119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr21:41459119C>T	uc002yyq.1	-	22	4398	c.3946G>A	c.(3946-3948)GCA>ACA	p.A1316T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1316	Extracellular (Potential).|Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTTGACTGCAGGAGAAGGG	0.473		NaN											0	0	0	0.062417	0	23	67				
MIF	4282	broad.mit.edu	37	22	24236667	24236667	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:24236667G>A	uc002zyr.1	+	1	103	c.6G>A	c.(4-6)CCG>CCA	p.P2P	MIF_uc011aje.1_Silent_p.P2P|uc002zys.1_3'UTR	NM_002415	NP_002406	P14174	MIF_HUMAN	macrophage migration inhibitory factor	2		Proton acceptor; via imino nitrogen.			cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity				0						CCATCATGCCGATGTTCATCG	0.687		NaN											0	0	0	0.037714	0	30	29				
MYO18B	84700	broad.mit.edu	37	22	26422680	26422680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:26422680C>T	uc003abz.1	+	43	6990	c.6740C>T	c.(6739-6741)TCA>TTA	p.S2247L	MYO18B_uc003aca.1_Missense_Mutation_p.S2128L|MYO18B_uc010guy.1_Missense_Mutation_p.S2129L|MYO18B_uc010guz.1_Missense_Mutation_p.S2127L|MYO18B_uc011aka.1_Missense_Mutation_p.S1401L|MYO18B_uc011akb.1_Missense_Mutation_p.S1760L|MYO18B_uc010gva.1_Missense_Mutation_p.S230L|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2247						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCCAGTCCTTCAGCGGCCCTC	0.602		NaN											0	0	0	0.014758	0	4	27				
SLC5A1	6523	broad.mit.edu	37	22	32480979	32480979	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32480979C>T	uc003amc.2	+	9	1210	c.978C>T	c.(976-978)TTC>TTT	p.F326F	SLC5A1_uc011alz.1_Silent_p.F199F	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	326	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TGCCCATGTTCATCATGGTGA	0.502		NaN											0	0	0	0.083992	0	25	86				
SYN3	8224	broad.mit.edu	37	22	32924939	32924939	+	Silent	SNP	C	C	T	rs138034081		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:32924939C>T	uc003amx.2	-	10	1311	c.1152G>A	c.(1150-1152)CTG>CTA	p.L384L	SYN3_uc003amy.2_Silent_p.L384L|SYN3_uc003amz.2_Silent_p.L383L|SYN3_uc011amc.1_Silent_p.L18L	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	384	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						GGTCGGCCATCAGCTGTCTGT	0.592		NaN									OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.055883	0	22	83				
APOL2	23780	broad.mit.edu	37	22	36624218	36624218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624218C>G	uc003aoz.2	-	5	582	c.246G>C	c.(244-246)TTG>TTC	p.L82F	APOL2_uc011amm.1_Missense_Mutation_p.L194F|APOL2_uc003apa.2_Missense_Mutation_p.L82F	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	82					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						GAAACTCTTTCAAAAACCACT	0.507		NaN											0	0	0	0.045515	0	41	139				
APOL2	23780	broad.mit.edu	37	22	36624296	36624296	+	Silent	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:36624296C>G	uc003aoz.2	-	5	504	c.168G>C	c.(166-168)CTG>CTC	p.L56L	APOL2_uc011amm.1_Silent_p.L168L|APOL2_uc003apa.2_Silent_p.L56L	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	56					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						CAAGCTTGTTCAGAGCTTTAC	0.453		NaN											0	0	0	0.048971	0	55	150				
GGA1	26088	broad.mit.edu	37	22	38010268	38010268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:38010268G>A	uc003atc.2	+	2	480	c.115G>A	c.(115-117)GAG>AAG	p.E39K	GGA1_uc003atb.2_Missense_Mutation_p.E39K|GGA1_uc003atd.2_Missense_Mutation_p.E39K|GGA1_uc003ate.2_Missense_Mutation_p.E39K|GGA1_uc003atf.2_5'UTR	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	39	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					GCAGCTCAACGAGGACTTTGA	0.607		NaN											0	0	0	0.09319	0	13	42				
XPNPEP3	63929	broad.mit.edu	37	22	41322359	41322359	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41322359C>G	uc003azh.2	+	10	1536	c.1444C>G	c.(1444-1446)CAG>GAG	p.Q482E	XPNPEP3_uc003azi.2_Missense_Mutation_p.Q403E|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	482					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						AGTGGTGACTCAGGACTCACC	0.473		NaN											0	0	0	0.048971	0	59	120				
EP300	2033	broad.mit.edu	37	22	41565561	41565561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:41565561G>C	uc003azl.3	+	26	4622	c.4227G>C	c.(4225-4227)TTG>TTC	p.L1409F		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1409					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTAAATGCTTGAGGACTGCAG	0.323		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.058154	0	8	119		Valid		
MOV10L1	54456	broad.mit.edu	37	22	50546633	50546633	+	Missense_Mutation	SNP	G	G	A	rs147590689		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr22:50546633G>A	uc003bjj.2	+	4	594	c.511G>A	c.(511-513)GAA>AAA	p.E171K	MOV10L1_uc003bjk.3_Missense_Mutation_p.E171K|MOV10L1_uc011arp.1_Missense_Mutation_p.E151K|MOV10L1_uc010han.2_Missense_Mutation_p.E151K	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	171					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGGAGCAGCGAAGCCACCTC	0.602		NaN											0	0	0	0.047766	0	8	17				
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:5243458C>T	uc003bqi.2	+	4	839	c.707C>T	c.(706-708)TCT>TTT	p.S236F	EDEM1_uc011asz.1_Missense_Mutation_p.S14F|EDEM1_uc003bqh.2_Missense_Mutation_p.S236F	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	236	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408		NaN											0	0	0	0.108266	0	27	106				
IL17RC	84818	broad.mit.edu	37	3	9965627	9965627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:9965627G>T	uc003bua.2	+	8	1134	c.898G>T	c.(898-900)GAG>TAG	p.E300*	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Nonsense_Mutation_p.E204*|IL17RC_uc003btz.2_Nonsense_Mutation_p.E229*|IL17RC_uc011atp.1_Nonsense_Mutation_p.E85*|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Nonsense_Mutation_p.E214*|IL17RC_uc010hct.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcu.2_Nonsense_Mutation_p.E229*|IL17RC_uc010hcv.2_Nonsense_Mutation_p.E214*|IL17RC_uc011atq.1_Nonsense_Mutation_p.E214*|IL17RC_uc003buc.2_5'UTR	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	300	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GAATGTCTCTGAGGAGCAGCA	0.592		NaN											1	0	4.81362e-53	0.048971	5.16738e-53	96	79				
FANCD2	2177	broad.mit.edu	37	3	10078013	10078013	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:10078013T>G	uc003buw.2	+	7	559	c.481T>G	c.(481-483)TTT>GTT	p.F161V	FANCD2_uc003bux.1_Missense_Mutation_p.F161V|FANCD2_uc003buy.1_Missense_Mutation_p.F161V|FANCD2_uc003buv.2_Missense_Mutation_p.F161V	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	161	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCCAGAATATTTTTTTGAAAA	0.333		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.069288	0	20	93				
PLCL2	23228	broad.mit.edu	37	3	17053637	17053637	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:17053637G>A	uc011awc.1	+	5	2880	c.2775G>A	c.(2773-2775)CTG>CTA	p.L925L	PLCL2_uc011awd.1_Silent_p.L807L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	933					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						CCACAGATCTGAGAGAAAACA	0.383		NaN											0	0	0	0.021553	0	5	25				
TRANK1	9881	broad.mit.edu	37	3	36872833	36872833	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:36872833G>C	uc003cgj.2	-	12	6761	c.6459C>G	c.(6457-6459)GTC>GTG	p.V2153V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2703					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CCTCCTCCCTGACACGCTCCA	0.592		NaN											0	0	0	0.055883	0	21	8				
GOLGA4	2803	broad.mit.edu	37	3	37376609	37376609	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:37376609G>A	uc003cgv.2	+	17	6562	c.6258G>A	c.(6256-6258)AAG>AAA	p.K2086K	GOLGA4_uc003cgw.2_Silent_p.K2108K|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.K1967K	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	2086	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AGCTGCAGAAGAAATACCAGC	0.378		NaN											0	0	0	0.014758	0	4	10				
ENTPD3	956	broad.mit.edu	37	3	40457435	40457435	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:40457435G>A	uc003ckd.3	+	7	794	c.702G>A	c.(700-702)AAG>AAA	p.K234K	ENTPD3_uc010hhy.2_Silent_p.K234K|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	234	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGGAGAGAAGATGGATCTGA	0.562		NaN											0	0	0	0.047766	0	9	22				
PTH1R	5745	broad.mit.edu	37	3	46940250	46940250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:46940250C>G	uc003cqm.2	+	9	940	c.737C>G	c.(736-738)TCT>TGT	p.S246C	PTH1R_uc003cqn.2_Missense_Mutation_p.S246C	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	246	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GTGCTCTACTCTGGCGCCACG	0.677		NaN							Ollier_disease_/_Maffuci_syndrome				0	0	0	0.083992	0	24	21				
SETD2	29072	broad.mit.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:47144868G>A	uc003cqs.2	-	7	4938	c.4885C>T	c.(4885-4887)CAC>TAC	p.H1629Y	SETD2_uc003cqv.2_Missense_Mutation_p.H1696Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1629fs*15(1)		kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.059317	0	33	125		Valid		
BAP1	8314	broad.mit.edu	37	3	52442604	52442604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:52442604G>C	uc003ddx.2	-	4	256	c.141C>G	c.(139-141)ATC>ATG	p.I47M	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	47					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGAACAGGAAGATAAATCCAT	0.473		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.004672	0	3	23				
CADPS	8618	broad.mit.edu	37	3	62423823	62423823	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:62423823G>A	uc003dll.2	-	28	4093	c.3733C>T	c.(3733-3735)CGT>TGT	p.R1245C	CADPS_uc003dlj.1_Missense_Mutation_p.R200C|CADPS_uc003dlk.1_Missense_Mutation_p.R693C|CADPS_uc003dlm.2_Missense_Mutation_p.R1206C|CADPS_uc003dln.2_Missense_Mutation_p.R1166C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1245	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCTTATCACGCAGGACATCC	0.448		NaN											0	0	0	0.009096	0	4	32				
CD86	942	broad.mit.edu	37	3	121825321	121825321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:121825321G>A	uc003eet.2	+	4	793	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	CD86_uc011bjo.1_Missense_Mutation_p.R144Q|CD86_uc011bjp.1_Missense_Mutation_p.R114Q|CD86_uc003eeu.2_Missense_Mutation_p.R220Q	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	226	Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GACAAGACGCGGCTTTTATCT	0.403		NaN											0	0	0	0.048971	0	55	66				
KALRN	8997	broad.mit.edu	37	3	124380748	124380748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:124380748G>A	uc003ehg.2	+	45	6442	c.6315G>A	c.(6313-6315)ATG>ATA	p.M2105I	KALRN_uc003ehi.2_Missense_Mutation_p.M446I|KALRN_uc003ehk.2_Missense_Mutation_p.M408I|KALRN_uc011bjz.1_Missense_Mutation_p.M197I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2104					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ATGACATGATGAATCTAGGAC	0.507		NaN											0	0	0	0.048971	0	89	116				
COPB2	9276	broad.mit.edu	37	3	139085601	139085601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:139085601C>T	uc003etf.3	-	15	1823	c.1693G>A	c.(1693-1695)GGC>AGC	p.G565S	COPB2_uc011bmv.1_Missense_Mutation_p.G536S|COPB2_uc010hui.2_Missense_Mutation_p.G536S	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	565					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GGAATGTAGCCTAGGAGATAC	0.413		NaN											0	0	0	0.021553	0	5	26				
GPR149	344758	broad.mit.edu	37	3	154139250	154139250	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:154139250G>A	uc003faa.2	-	3	1301	c.1201C>T	c.(1201-1203)CTA>TTA	p.L401L		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	401	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAATGATAGATTGAATTCA	0.284		NaN											0	0	0	0.014758	0	5	10				
TRIM59	286827	broad.mit.edu	37	3	160156351	160156351	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:160156351G>A	uc003fdm.2	-	3	816	c.621C>T	c.(619-621)CTC>CTT	p.L207L	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	207	Potential.					integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACATCACAGAGAGCCGTTA	0.353		NaN											0	0	0	0.09836	0	38	161				
PIK3CA	5290	broad.mit.edu	37	3	178942564	178942564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr3:178942564G>C	uc003fjk.2	+	16	2528	c.2371G>C	c.(2371-2373)GAG>CAG	p.E791Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	791					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATCATGTCAGAGTTACTGTT	0.353		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.02938	0	7	23		Valid		
CTBP1	1487	broad.mit.edu	37	4	1206715	1206715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:1206715A>C	uc003gcv.1	-	8	1290	c.1125T>G	c.(1123-1125)AAT>AAG	p.N375K	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.N356K|CTBP1_uc003gcu.1_Missense_Mutation_p.N364K|CTBP1_uc003gcw.2_Missense_Mutation_p.N49K	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	375					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGGCAGCCCCATTGAGCTCAG	0.667		NaN											0	0	0	0.024245	0	7	46				
POLN	353497	broad.mit.edu	37	4	2130935	2130935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:2130935G>A	uc003ger.2	-	16	1838	c.1838C>T	c.(1837-1839)TCA>TTA	p.S613L	POLN_uc010icg.1_Missense_Mutation_p.S61L|POLN_uc010ich.1_Missense_Mutation_p.S145L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	613					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCCTTTGGATGAAACAAACAT	0.398		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.062417	0	22	63				
ABLIM2	84448	broad.mit.edu	37	4	7985051	7985051	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:7985051G>C	uc003gko.2	-	19	1805	c.1662C>G	c.(1660-1662)CTC>CTG	p.L554L	ABLIM2_uc003gkk.2_Silent_p.L179L|ABLIM2_uc003gkl.2_Silent_p.L282L|ABLIM2_uc003gkj.3_Silent_p.L588L|ABLIM2_uc003gkm.3_Silent_p.L502L|ABLIM2_uc003gkp.2_Silent_p.L474L|ABLIM2_uc003gkq.2_Silent_p.L515L|ABLIM2_uc003gkr.2_Silent_p.L464L|ABLIM2_uc003gki.2_RNA	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	554	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						TTGTGACGATGAGGGAGTCAT	0.562		NaN											0	0	0	0.021553	0	6	25				
GPR125	166647	broad.mit.edu	37	4	22449100	22449100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:22449100G>A	uc003gqm.1	-	5	773	c.508C>T	c.(508-510)CAA>TAA	p.Q170*	GPR125_uc010ieo.1_Nonsense_Mutation_p.Q44*|GPR125_uc003gqo.2_Nonsense_Mutation_p.Q170*	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	170	Extracellular (Potential).|LRR 4.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				AAAGTTCCTTGAGATAATGAA	0.249		NaN											0	0	0	0.020292	0	12	30				
FRYL	285527	broad.mit.edu	37	4	48517148	48517148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:48517148C>T	uc003gyh.1	-	56	8439	c.7834G>A	c.(7834-7836)GAA>AAA	p.E2612K	FRYL_uc003gyf.1_Missense_Mutation_p.E8K|FRYL_uc003gyg.1_Missense_Mutation_p.E1308K|FRYL_uc003gyi.1_Missense_Mutation_p.E1500K	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2612					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GGGTAACTTTCAGGAGCTAGA	0.423		NaN											0	0	0	0.076483	0	23	29				
NPFFR2	10886	broad.mit.edu	37	4	73013407	73013407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:73013407C>T	uc003hgg.2	+	4	1545	c.1447C>T	c.(1447-1449)CAG>TAG	p.Q483*	NPFFR2_uc010iig.1_Nonsense_Mutation_p.Q265*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Q384*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Q381*|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	483	Cytoplasmic (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAGCTTGTCCAGGAATCTAC	0.403		NaN											0	0	0	0.024245	0	14	31				
PPEF2	5470	broad.mit.edu	37	4	76794444	76794444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:76794444C>T	uc003hix.2	-	12	1699	c.1342G>A	c.(1342-1344)GAT>AAT	p.D448N	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.D448N	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	448	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCATGGGATCACTCCACAGG	0.433		NaN											0	0	0	0.048971	0	49	81				
ADH1B	125	broad.mit.edu	37	4	100235073	100235073	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:100235073G>C	uc003hus.3	-	6	817	c.733C>G	c.(733-735)CAA>GAA	p.Q245E	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.Q205E|ADH1B_uc011ceh.1_Missense_Mutation_p.Q90E|ADH1B_uc011cei.1_Missense_Mutation_p.Q205E	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	245					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGTAGTCTTGAGGGTTGATG	0.468		NaN											0	0	0	0.048971	0	79	93				
MAML3	55534	broad.mit.edu	37	4	140810713	140810713	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:140810713T>G	uc003ihz.1	-	3	2617	c.1865A>C	c.(1864-1866)AAC>ACC	p.N622T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	622	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					CATCAAGGGGTTTTTGTTGGG	0.393		NaN											0	0	0	0.11126	0	21	246				
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr4:175897020C>T	uc003iuc.2	+	5	1014	c.344C>T	c.(343-345)TCC>TTC	p.S115F	ADAM29_uc003iud.2_Missense_Mutation_p.S115F|ADAM29_uc010irr.2_Missense_Mutation_p.S115F|ADAM29_uc011cki.1_Missense_Mutation_p.S115F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443		NaN											0	0	0	0.047766	0	9	31				
MARCH6	10299	broad.mit.edu	37	5	10391786	10391786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:10391786G>C	uc003jet.1	+	7	892	c.709G>C	c.(709-711)GAG>CAG	p.E237Q	MARCH6_uc011cmu.1_Missense_Mutation_p.E189Q|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E132Q	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	237	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ggaggacaatgaggaggaaga	0.433		NaN											0	0	0	0.076483	0	23	24				
C1QTNF3	114899	broad.mit.edu	37	5	34043213	34043213	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:34043213G>T	uc003jin.2	-	1	105	c.18C>A	c.(16-18)CTC>CTA	p.L6L	C1QTNF3_uc003jio.2_Silent_p.L6L	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	6						collagen					0	all_lung(31;0.0207)					GCCAATAGATGAGCTGCCTCC	0.507		NaN											1	0	3.86212e-05	0.069234	3.92937e-05	11	36				
NIPBL	25836	broad.mit.edu	37	5	37020905	37020905	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:37020905G>A	uc003jkl.3	+	27	5753	c.5254G>A	c.(5254-5256)GAT>AAT	p.D1752N	NIPBL_uc003jkk.3_Missense_Mutation_p.D1752N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1752					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACTATGATGATGCTTGCTT	0.348		NaN											0	0	0	0.048971	0	56	208				
NNT	23530	broad.mit.edu	37	5	43650630	43650630	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:43650630C>A	uc003joe.2	+	12	1913	c.1658C>A	c.(1657-1659)TCC>TAC	p.S553Y	NNT_uc003jof.2_Missense_Mutation_p.S553Y	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	553					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTGTATCCTTCCACAACTTCT	0.443		NaN											1	0	6.44725e-10	0.069288	6.69271e-10	19	53				
F2RL1	2150	broad.mit.edu	37	5	76128897	76128897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:76128897C>G	uc003keo.2	+	2	640	c.465C>G	c.(463-465)TTC>TTG	p.F155L		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	155	Helical; Name=3; (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTGGCTTTTTCTATGGCAACA	0.468		NaN											0	0	0	0.048971	0	115	294				
LYSMD3	116068	broad.mit.edu	37	5	89815090	89815090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:89815090G>A	uc003kjr.2	-	3	615	c.467C>T	c.(466-468)TCA>TTA	p.S156L	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	156	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GCTACCAGCTGAGTCACTGTA	0.398		NaN											0	0	0	0.020292	0	14	41				
PCDHB8	56128	broad.mit.edu	37	5	140558048	140558048	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140558048G>A	uc011dai.1	+	1	619	c.433G>A	c.(433-435)GAG>AAG	p.E145K	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	145	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGTATCAGAGAGCAGTCC	0.418		NaN											0	0	0	0.048971	0	49	267				
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140683343G>A	uc003ljf.2	-	1	270	c.90C>T	c.(88-90)TTC>TTT	p.F30F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	30	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597		NaN											0	0	0	0.038395	0	17	40				
PCDHGB4	8641	broad.mit.edu	37	5	140769192	140769192	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:140769192G>C	uc003lkc.1	+	1	1741	c.1741G>C	c.(1741-1743)GAG>CAG	p.E581Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E581Q	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	581	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGCTGCAGAGCCTGGCTA	0.652		NaN											0	0	0	0.09319	0	12	39				
SLC36A3	285641	broad.mit.edu	37	5	150666828	150666828	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:150666828C>T	uc003ltw.2	-	6	1106	c.687G>A	c.(685-687)CTG>CTA	p.L229L	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L214L|SLC36A3_uc003ltx.2_Silent_p.L270L	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	229	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCAAAGATCAGAGCCATGC	0.517		NaN											0	0	0	0.0333	0	17	40				
G3BP1	10146	broad.mit.edu	37	5	151179852	151179852	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:151179852C>T	uc003lun.2	+	10	1200	c.1029C>T	c.(1027-1029)TTC>TTT	p.F343F	G3BP1_uc003lum.2_Silent_p.F343F|G3BP1_uc011dcu.1_Silent_p.F161F|G3BP1_uc010jhz.2_Silent_p.F161F|G3BP1_uc003luq.2_Silent_p.F11F	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	343	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ACCAACTCTTCATTGGCAACC	0.418		NaN											0	0	0	0.108266	0	26	53				
GABRA6	2559	broad.mit.edu	37	5	161116651	161116651	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:161116651C>A	uc003lyu.2	+	6	877	c.539C>A	c.(538-540)CCC>CAC	p.P180H	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	180	Extracellular (Probable).		P -> H (in a colorectal cancer sample; somatic mutation).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.P180H(1)		ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGCTTATCCCAAAAGTGAA	0.328		NaN								TCGA Ovarian(5;0.080)			1	0	1.06961e-07	0.038147	1.09918e-07	6	15				
SLC34A1	6569	broad.mit.edu	37	5	176815096	176815096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:176815096G>A	uc003mgk.3	+	7	847	c.746G>A	c.(745-747)CGA>CAA	p.R249Q		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	249	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATCACTCGACTTGTGGTG	0.592		NaN											0	0	0	0.043863	0	17	47				
RUFY1	80230	broad.mit.edu	37	5	179023597	179023597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:179023597G>A	uc003mka.1	+	13	1546	c.1546G>A	c.(1546-1548)GAG>AAG	p.E516K	RUFY1_uc003mkb.1_Missense_Mutation_p.E408K|RUFY1_uc003mkc.1_Missense_Mutation_p.E408K|RUFY1_uc003mkd.1_Missense_Mutation_p.E118K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	516	Potential.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGGGGCTGAGGAGCGGAG	0.617		NaN								HNSCC(44;0.11)			0	0	0	0.048971	0	48	123				
RPP40	10799	broad.mit.edu	37	6	4996532	4996532	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:4996532C>T	uc003mwl.2	-	6	717	c.682G>A	c.(682-684)GAG>AAG	p.E228K	RPP40_uc003mwm.2_Missense_Mutation_p.E205K	NM_006638	NP_006629	O75818	RPP40_HUMAN	ribonuclease P 40kDa subunit	228					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGCGTTCCCTCCAGCTCGCTG	0.557		NaN											0	0	0	0.104719	0	43	84				
RREB1	6239	broad.mit.edu	37	6	7231959	7231959	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:7231959C>T	uc003mxc.2	+	10	4017	c.3627C>T	c.(3625-3627)GCC>GCT	p.A1209A	RREB1_uc003mxb.2_Silent_p.A1209A|RREB1_uc010jnx.2_Silent_p.A1209A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1209					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGAGGTGGCCGGAGCCCCTG	0.602		NaN											0	0	0	0.049695	0	18	28				
HIVEP1	3096	broad.mit.edu	37	6	12122972	12122972	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:12122972T>A	uc003nac.2	+	4	3123	c.2944T>A	c.(2944-2946)TGT>AGT	p.C982S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	982	C2H2-type 3.				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAATTTTACTGTTCTGAGTT	0.428		NaN											0	0	0	0.059317	0	37	78				
SLC17A4	10050	broad.mit.edu	37	6	25773814	25773814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:25773814C>G	uc003nfe.2	+	8	1018	c.899C>G	c.(898-900)TCT>TGT	p.S300C	SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.S61C|SLC17A4_uc003nfg.2_Missense_Mutation_p.S237C|SLC17A4_uc010jqa.2_Missense_Mutation_p.S13C	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	300	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						ATTTTAGTCTCTTATTTCTGT	0.448		NaN											0	0	0	0.004672	0	3	32				
BTN2A1	11120	broad.mit.edu	37	6	26459787	26459787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:26459787C>T	uc003nib.1	+	3	373	c.161C>T	c.(160-162)TCA>TTA	p.S54L	BTN2A1_uc003nic.1_Missense_Mutation_p.S54L|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	54	Extracellular (Potential).|Ig-like V-type.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TGCCATCTGTCACCCGAGAAA	0.532		NaN											0	0	0	0.105934	0	13	65				
HIST1H2AG	8969	broad.mit.edu	37	6	27100942	27100942	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:27100942T>G	uc003niw.2	+	1	126	c.92T>G	c.(91-93)GTG>GGG	p.V31G	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	31					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GTGGGCCGAGTGCACCGCCTG	0.677		NaN											0	0	0	0.0333	0	10	56				
VARS2	57176	broad.mit.edu	37	6	30882669	30882669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:30882669C>T	uc003nsc.1	+	1	688	c.56C>T	c.(55-57)TCA>TTA	p.S19L	GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Missense_Mutation_p.S19L|VARS2_uc011dmx.1_Missense_Mutation_p.S19L|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Missense_Mutation_p.S49L|VARS2_uc011dna.1_Missense_Mutation_p.S19L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	19					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CTGAGGCACTCACGGGGCCTC	0.572		NaN											0	0	0	0.048971	0	55	101				
RNF5	6048	broad.mit.edu	37	6	32147331	32147331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:32147331C>T	uc003oaj.3	+	2	281	c.154C>T	c.(154-156)CAT>TAT	p.H52Y	AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	52	RING-type.				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GCCATGTCTTCATCAGGTGCG	0.473		NaN											0	0	0	0.048971	0	285	511				
B3GALT4	8705	broad.mit.edu	37	6	33246064	33246064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:33246064G>C	uc003odr.2	+	1	1148	c.868G>C	c.(868-870)GAG>CAG	p.E290Q		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	290	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						TCTCCCATTAGAGGATGTCTT	0.622		NaN											0	0	0	0.108266	0	27	156				
DNAH8	1769	broad.mit.edu	37	6	38810631	38810631	+	Silent	SNP	T	T	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:38810631T>C	uc003ooe.1	+	33	4746	c.4146T>C	c.(4144-4146)CTT>CTC	p.L1382L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CTTTTTGCCTTAGAAATATCA	0.373		NaN											0	0	0	0.021553	0	6	52				
TBCC	6903	broad.mit.edu	37	6	42712930	42712930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42712930C>G	uc003osl.2	-	1	955	c.882G>C	c.(880-882)TGG>TGC	p.W294C		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	294	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCGGGTAGCTCCAGGTGTAAG	0.537		NaN											0	0	0	0.048971	0	48	126				
TBCC	6903	broad.mit.edu	37	6	42713073	42713073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713073C>G	uc003osl.2	-	1	812	c.739G>C	c.(739-741)GAG>CAG	p.E247Q		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	247	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGCAGTCCTCCAGGAAAACA	0.592		NaN											0	0	0	0.064281	0	35	85				
TBCC	6903	broad.mit.edu	37	6	42713214	42713214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:42713214C>G	uc003osl.2	-	1	671	c.598G>C	c.(598-600)GAG>CAG	p.E200Q		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	200	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGGTGCAACTCGCTGGCTCTC	0.602		NaN											0	0	0	0.076483	0	23	34				
RCAN2	10231	broad.mit.edu	37	6	46214588	46214588	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:46214588G>C	uc003oyb.1	-	3	645	c.330C>G	c.(328-330)CTC>CTG	p.L110L	RCAN2_uc003oyc.1_Silent_p.L156L|RCAN2_uc003oyd.1_Silent_p.L156L	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	110					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						GGGGCGAGATGAGAAACTGTT	0.522		NaN											0	0	0	0.021553	0	5	23				
CASP8AP2	9994	broad.mit.edu	37	6	90576496	90576496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:90576496G>A	uc003pnr.2	+	8	3683	c.3487G>A	c.(3487-3489)GAA>AAA	p.E1163K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1163K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1163K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1163					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGATAGTGATGAAGGCAAACT	0.328		NaN											0	0	0	0.014758	0	5	24				
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766413C>G	uc003ptj.2	-	21	3122	c.2868G>C	c.(2866-2868)TTG>TTC	p.L956F	MICAL1_uc003ptk.2_Missense_Mutation_p.L956F|MICAL1_uc010kdr.2_Missense_Mutation_p.L870F|MICAL1_uc011eaq.1_Missense_Mutation_p.L975F	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	956	Potential.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592		NaN											0	0	0	0.024245	0	14	74				
MICAL1	64780	broad.mit.edu	37	6	109766439	109766439	+	Missense_Mutation	SNP	C	C	T	rs147968137	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:109766439C>T	uc003ptj.2	-	21	3096	c.2842G>A	c.(2842-2844)GAG>AAG	p.E948K	MICAL1_uc003ptk.2_Missense_Mutation_p.E948K|MICAL1_uc010kdr.2_Missense_Mutation_p.E862K|MICAL1_uc011eaq.1_Missense_Mutation_p.E967K	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	948	Potential.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TTCACGCCCTCGGCCTCTAGC	0.567		NaN											0	0	0	0.024245	0	14	66				
ROS1	6098	broad.mit.edu	37	6	117746802	117746802	+	Silent	SNP	A	A	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:117746802A>G	uc003pxp.1	-	1	217	c.18T>C	c.(16-18)TGT>TGC	p.C6C	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	6					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCGGAATAAGACAGTAAATGT	0.383		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.09319	0	12	54				
MAP3K5	4217	broad.mit.edu	37	6	137041602	137041602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:137041602G>C	uc003qhc.2	-	2	935	c.574C>G	c.(574-576)CTG>GTG	p.L192V	MAP3K5_uc011edk.1_Missense_Mutation_p.L37V|MAP3K5_uc010kgw.1_Missense_Mutation_p.L192V	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	192					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGACTGCAGAGAGTCCGAG	0.443		NaN											0	0	0	0.020292	0	15	13				
PLEKHG1	57480	broad.mit.edu	37	6	151152717	151152717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:151152717C>G	uc003qny.1	+	16	2782	c.2470C>G	c.(2470-2472)CAT>GAT	p.H824D	PLEKHG1_uc011eel.1_Missense_Mutation_p.H864D|PLEKHG1_uc011eem.1_Missense_Mutation_p.H883D|PLEKHG1_uc003qnz.2_Missense_Mutation_p.H824D	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	824					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCTATGCCTCATAAGCCTGT	0.458		NaN											0	0	0	0.048971	0	123	155				
SYNE1	23345	broad.mit.edu	37	6	152583252	152583252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr6:152583252C>T	uc010kiw.2	-	101	19489	c.18887G>A	c.(18886-18888)AGA>AAA	p.R6296K	SYNE1_uc010kiv.2_Missense_Mutation_p.R820K|SYNE1_uc003qos.3_Missense_Mutation_p.R820K|SYNE1_uc003qot.3_Missense_Mutation_p.R6225K|SYNE1_uc003qou.3_Missense_Mutation_p.R6296K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6296	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATTTCATTCTCATCTGGTC	0.378		NaN								HNSCC(10;0.0054)			0	0	0	0.076483	0	23	61				
IQCE	23288	broad.mit.edu	37	7	2632715	2632715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:2632715C>T	uc003smo.3	+	15	1488	c.1304C>T	c.(1303-1305)GCG>GTG	p.A435V	IQCE_uc010ksm.1_Missense_Mutation_p.A435V|IQCE_uc003sml.1_Missense_Mutation_p.A435V|IQCE_uc011jvy.1_Missense_Mutation_p.A419V|IQCE_uc011jvz.1_Missense_Mutation_p.A370V|IQCE_uc003smk.3_Missense_Mutation_p.A419V|IQCE_uc003smn.3_Missense_Mutation_p.A370V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	435	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ctggagtgcgcgagggagggc	0.413		NaN											0	0	0	0.050027	0	34	159				
RNF216	54476	broad.mit.edu	37	7	5781044	5781044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:5781044C>T	uc003soy.1	-	4	623	c.433G>A	c.(433-435)GAA>AAA	p.E145K	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E202K	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	145					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCTGAGTCTTCGGATGACTGG	0.453		NaN											0	0	0	0.048971	0	76	373				
DAGLB	221955	broad.mit.edu	37	7	6476128	6476128	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:6476128G>C	uc003sqa.2	-	3	454	c.284C>G	c.(283-285)TCT>TGT	p.S95C	DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.S95C|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.S54C|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	95	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AAGCAGCTTAGACATAGACTT	0.517		NaN											0	0	0	0.048971	0	104	90				
ITGB8	3696	broad.mit.edu	37	7	20438615	20438615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:20438615G>A	uc003suu.2	+	9	1984	c.1279G>A	c.(1279-1281)GAA>AAA	p.E427K	ITGB8_uc011jyh.1_Missense_Mutation_p.E292K|ITGB8_uc003sut.2_Missense_Mutation_p.E427K	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	427	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						GAGCAATGATGAAGTATGTGG	0.388		NaN											0	0	0	0.069234	0	11	27				
KLHL7	55975	broad.mit.edu	37	7	23180423	23180423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:23180423G>A	uc003svs.3	+	5	771	c.478G>A	c.(478-480)GAA>AAA	p.E160K	KLHL7_uc003svr.3_Missense_Mutation_p.E138K|KLHL7_uc011jys.1_Missense_Mutation_p.E84K|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.E112K|KLHL7_uc011jyv.1_5'UTR	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	160						Golgi apparatus|nucleolus|plasma membrane					0						AGATTGTCCTGAATTGAAAGC	0.328		NaN											0	0	0	0.048971	0	67	57				
BMPER	168667	broad.mit.edu	37	7	34192756	34192756	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:34192756C>G	uc011kap.1	+	15	2043	c.1929C>G	c.(1927-1929)ATC>ATG	p.I643M		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	643	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						CGGGATGTATCAAGACGTGTG	0.507		NaN											0	0	0	0.048971	0	55	83				
CDK13	8621	broad.mit.edu	37	7	40134032	40134032	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:40134032C>G	uc003thh.3	+	14	4274	c.3992C>G	c.(3991-3993)TCC>TGC	p.S1331C	CDK13_uc003thi.3_Missense_Mutation_p.S1271C|CDK13_uc003thj.2_Missense_Mutation_p.S382C|CDK13_uc003thk.2_Missense_Mutation_p.S264C	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1331					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						ACTTACGTGTCCACTTCAGAC	0.483		NaN											0	0	0	0.048971	0	73	52				
HECW1	23072	broad.mit.edu	37	7	43484701	43484701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:43484701G>A	uc003tid.1	+	11	2535	c.1930G>A	c.(1930-1932)GCG>ACG	p.A644T	HECW1_uc011kbi.1_Missense_Mutation_p.A644T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	644					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGCCAATGGCGCGGCCCAGGA	0.711		NaN											0	0	0	0.105934	0	10	13				
PPIA	5478	broad.mit.edu	37	7	44839364	44839364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:44839364G>A	uc003tlw.2	+	4	336	c.253G>A	c.(253-255)GAT>AAT	p.D85N	PPIA_uc003tlx.2_RNA|PPIA_uc010kyl.2_RNA	NM_021130	NP_066953	P62937	PPIA_HUMAN	peptidylprolyl isomerase A	85	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding				0					Cyclosporine(DB00091)|L-Proline(DB00172)	GAAATTTGAAGATGAGAACTT	0.458		NaN											0	0	0	0.024245	0	9	252				
NSUN5	55695	broad.mit.edu	37	7	72721626	72721626	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:72721626C>T	uc003txw.2	-	3	381	c.345G>A	c.(343-345)GTG>GTA	p.V115V	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.V115V|NSUN5_uc003txx.2_Silent_p.V77V|NSUN5_uc011kev.1_Silent_p.V115V	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	115							methyltransferase activity				0		Lung NSC(55;0.163)				CATTCCGGCTCACACCCCGAT	0.642		NaN											0	0	0	0.069234	0	10	29				
POM121C	100101267	broad.mit.edu	37	7	75048154	75048154	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:75048154G>C	uc003udk.3	-	15	3774	c.2889C>G	c.(2887-2889)TCC>TCG	p.S963S		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1205	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						CCGCACCAATGGAAAATGAAG	0.592		NaN											0	0	0	0.047766	0	6	26				
HGF	3082	broad.mit.edu	37	7	81388061	81388061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:81388061G>C	uc003uhl.2	-	3	479	c.314C>G	c.(313-315)TCA>TGA	p.S105*	HGF_uc003uhm.2_Nonsense_Mutation_p.S105*|HGF_uc003uhn.1_Nonsense_Mutation_p.S105*|HGF_uc003uho.1_Nonsense_Mutation_p.S105*|HGF_uc003uhp.2_Nonsense_Mutation_p.S105*	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	105	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CACTCCACTTGACATGCTATT	0.318		NaN											0	0	0	0.080935	0	11	54				
AKAP9	10142	broad.mit.edu	37	7	91603155	91603155	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:91603155C>T	uc003ulg.2	+	2	404	c.179C>T	c.(178-180)TCA>TTA	p.S60L	AKAP9_uc003uld.3_Missense_Mutation_p.S60L|AKAP9_uc003ule.2_Missense_Mutation_p.S72L|AKAP9_uc003ulf.2_Missense_Mutation_p.S60L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	72					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGATCAATCACAGTGTAAT	0.363		NaN	T	BRAF	papillary thyroid								0	0	0	0.062417	0	21	35				
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:93516176G>A	uc003umy.1	-	5	739	c.664C>T	c.(664-666)CGC>TGC	p.R222C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328		NaN											0	0	0	0.050027	0	33	85				
ACN9	57001	broad.mit.edu	37	7	96747140	96747140	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:96747140G>A	uc003uoo.3	+	1	1236	c.105G>A	c.(103-105)GTG>GTA	p.V35V		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	ACN9 homolog precursor	35					regulation of gluconeogenesis	mitochondrial intermembrane space					0	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACCAGTACGTGAAAGACGAAT	0.567		NaN											0	0	0	0.043863	0	20	55				
TAF6	6878	broad.mit.edu	37	7	99710524	99710524	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:99710524C>T	uc003uti.2	-	6	552	c.471G>A	c.(469-471)CAG>CAA	p.Q157Q	TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	157					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCAGCCTTCTGTTGCTCTT	0.532		NaN											0	0	0	0.048971	0	93	227				
RELN	5649	broad.mit.edu	37	7	103183210	103183210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:103183210C>G	uc003vca.2	-	43	6799	c.6639G>C	c.(6637-6639)TTG>TTC	p.L2213F	RELN_uc010liz.2_Missense_Mutation_p.L2213F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2213					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCGTGTCATCAACATGCGCA	0.363		NaN											0	0	0	0.083992	0	22	70				
NUP205	23165	broad.mit.edu	37	7	135261759	135261759	+	Silent	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135261759G>C	uc003vsw.2	+	5	562	c.531G>C	c.(529-531)CTG>CTC	p.L177L	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CAGATGAGCTGATGGAGCAAG	0.388		NaN											0	0	0	0.09319	0	12	23				
NUP205	23165	broad.mit.edu	37	7	135263632	135263632	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135263632G>A	uc003vsw.2	+	7	1042	c.1011G>A	c.(1009-1011)TTG>TTA	p.L337L	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	337					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CGCTGGCATTGAGGGGAATAT	0.448		NaN											0	0	0	0.024245	0	12	32				
NUP205	23165	broad.mit.edu	37	7	135302356	135302356	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:135302356C>T	uc003vsw.2	+	27	3728	c.3697C>T	c.(3697-3699)CAT>TAT	p.H1233Y	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1233					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CCAGCTTCTTCATAGGGTTCT	0.403		NaN											0	0	0	0.105934	0	14	51				
ZNF786	136051	broad.mit.edu	37	7	148769075	148769075	+	Silent	SNP	C	C	T	rs35396902		TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:148769075C>T	uc003wfh.2	-	4	926	c.789G>A	c.(787-789)ACG>ACA	p.T263T	ZNF786_uc011kuk.1_Silent_p.T226T|ZNF786_uc003wfi.2_Silent_p.T177T	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCCTCCCCGTGTGGGCCG	0.682		NaN											0	0	0	0.028581	0	12	27				
GIMAP2	26157	broad.mit.edu	37	7	150390122	150390122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr7:150390122C>T	uc003who.2	+	3	836	c.748C>T	c.(748-750)CAA>TAA	p.Q250*	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	250						integral to membrane	GTP binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGAAACTCAAAGAAGTTA	0.383		NaN											0	0	0	0.099896	0	28	30				
RP1L1	94137	broad.mit.edu	37	8	10468223	10468223	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:10468223C>G	uc003wtc.2	-	4	3614	c.3385G>C	c.(3385-3387)GAG>CAG	p.E1129Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1129					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCTTCCTCAAATAACTGC	0.602		NaN											0	0	0	0.048971	0	56	41				
PDLIM2	64236	broad.mit.edu	37	8	22442667	22442667	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:22442667C>T	uc003xby.2	+	5	853	c.453C>T	c.(451-453)ATC>ATT	p.I151I	PDLIM2_uc003xbx.1_Silent_p.I151I|PDLIM2_uc003xbz.2_Silent_p.I151I|PDLIM2_uc003xca.2_Silent_p.I151I|PDLIM2_uc003xcb.2_Silent_p.I151I|PDLIM2_uc003xcc.1_Silent_p.I151I	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	151	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGGCAGCCATCAGCCGCAGGT	0.662		NaN											0	0	0	0.11126	0	26	21				
ST18	9705	broad.mit.edu	37	8	53084883	53084883	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084883C>T	uc003xqz.2	-	5	694	c.538G>A	c.(538-540)GAT>AAT	p.D180N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D145N|ST18_uc011lds.1_Missense_Mutation_p.D85N|ST18_uc003xra.2_Missense_Mutation_p.D180N|ST18_uc003xrb.2_Missense_Mutation_p.D180N	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAGAATCATCAATCTTGTCT	0.428		NaN											0	0	0	0.048971	0	55	100				
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:53084982C>T	uc003xqz.2	-	5	595	c.439G>A	c.(439-441)GAA>AAA	p.E147K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E112K|ST18_uc011lds.1_Missense_Mutation_p.E52K|ST18_uc003xra.2_Missense_Mutation_p.E147K|ST18_uc003xrb.2_Missense_Mutation_p.E147K	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378		NaN											0	0	0	0.048971	0	64	103				
PDE7A	5150	broad.mit.edu	37	8	66659966	66659966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:66659966C>G	uc003xvq.2	-	4	368	c.356G>C	c.(355-357)AGA>ACA	p.R119T	PDE7A_uc003xvr.2_Missense_Mutation_p.R119T|PDE7A_uc003xvp.2_Missense_Mutation_p.R93T	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	119						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GCGTGAAGATCTAAGATATCG	0.343		NaN											0	0	0	0.020292	0	15	33				
PREX2	80243	broad.mit.edu	37	8	68981310	68981310	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:68981310G>C	uc003xxv.1	+	12	1409	c.1382G>C	c.(1381-1383)AGA>ACA	p.R461T	PREX2_uc003xxu.1_Missense_Mutation_p.R461T|PREX2_uc011lez.1_Missense_Mutation_p.R396T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	461	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATGTTATATAGATTTCGCTAT	0.348		NaN											0	0	0	0.0918	0	24	46				
WWP1	11059	broad.mit.edu	37	8	87439902	87439902	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:87439902A>T	uc003ydt.2	+	11	1468	c.1188A>T	c.(1186-1188)AGA>AGT	p.R396S	WWP1_uc010mai.2_Missense_Mutation_p.R172S	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	396	WW 2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						ATCGTAGAAGAGTTTATTATG	0.373		NaN											0	0	0	0.048971	0	55	125				
FZD6	8323	broad.mit.edu	37	8	104337581	104337581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:104337581G>A	uc003ylh.2	+	4	1531	c.1247G>A	c.(1246-1248)CGA>CAA	p.R416Q	FZD6_uc003yli.2_Missense_Mutation_p.R416Q|FZD6_uc003ylj.2_Missense_Mutation_p.R416Q|FZD6_uc011lhn.1_Missense_Mutation_p.R382Q|FZD6_uc011lho.1_Missense_Mutation_p.R111Q|FZD6_uc011lhp.1_Missense_Mutation_p.R361Q	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	416	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTATGATTCGAATTGGAGTC	0.403		NaN											0	0	0	0.083992	0	18	88				
ZHX2	22882	broad.mit.edu	37	8	123964977	123964977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:123964977G>C	uc003ypk.1	+	3	1794	c.1227G>C	c.(1225-1227)TTG>TTC	p.L409F		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	409	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAGACCCTTGGTGACTCCCC	0.637		NaN											0	0	0	0.004672	0	3	54				
ATAD2	29028	broad.mit.edu	37	8	124335198	124335198	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124335198C>A	uc003yqh.3	-	27	4219	c.4111G>T	c.(4111-4113)GAT>TAT	p.D1371Y	ATAD2_uc011lii.1_Missense_Mutation_p.D1162Y|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATGTTTTATCATGGTCCTTG	0.333		NaN											1	0	4.57574e-12	0.048971	4.77418e-12	61	116				
ATAD2	29028	broad.mit.edu	37	8	124346190	124346190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:124346190C>T	uc003yqh.3	-	24	3514	c.3406G>A	c.(3406-3408)GAT>AAT	p.D1136N	ATAD2_uc011lii.1_Missense_Mutation_p.D927N|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTTTATCACCAACAAGA	0.413		NaN											0	0	0	0.083992	0	25	113				
MTSS1	9788	broad.mit.edu	37	8	125568500	125568500	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:125568500C>T	uc003yrk.2	-	12	1911	c.1377G>A	c.(1375-1377)CGG>CGA	p.R459R	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.R233R|MTSS1_uc011lio.1_Silent_p.R349R|MTSS1_uc003yri.2_Silent_p.R177R|MTSS1_uc003yrj.2_Silent_p.R434R|MTSS1_uc003yrl.2_Silent_p.R463R	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	459					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGTCATGCTCCGTGGTCTCT	0.632		NaN											0	0	0	0.080935	0	9	22				
NSMCE2	286053	broad.mit.edu	37	8	126114679	126114679	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114679C>G	uc003yrw.2	+	3	335	c.107C>G	c.(106-108)TCT>TGT	p.S36C	NSMCE2_uc003yrv.2_Missense_Mutation_p.S36C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	36					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TGTATCAACTCTGGTATGGAC	0.418		NaN											0	0	0	0.099896	0	20	138				
NSMCE2	286053	broad.mit.edu	37	8	126114697	126114697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:126114697C>T	uc003yrw.2	+	3	353	c.125C>T	c.(124-126)TCT>TTT	p.S42F	NSMCE2_uc003yrv.2_Missense_Mutation_p.S42F	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	42					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GACACAGCTTCTAGTGTTGCT	0.423		NaN											0	0	0	0.076483	0	22	141				
FAM135B	51059	broad.mit.edu	37	8	139380150	139380150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:139380150C>T	uc003yuy.2	-	2	248	c.77G>A	c.(76-78)GGG>GAG	p.G26E	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	26										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATACTTACCCTCTCTGAAA	0.328		NaN								HNSCC(54;0.14)			0	0	0	0.038147	0	7	88				
ARHGAP39	80728	broad.mit.edu	37	8	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr8:145806415C>T	uc003zdt.1	-	4	882	c.327G>A	c.(325-327)CTG>CTA	p.L109L	ARHGAP39_uc011llk.1_Silent_p.L109L|ARHGAP39_uc003zds.1_Silent_p.L109L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	109					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						TGTTCTGCTTCAGCGTCTGCA	0.701		NaN											0	0	0	0.038147	0	8	3				
SMARCA2	6595	broad.mit.edu	37	9	2110409	2110409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:2110409C>T	uc003zhc.2	+	24	3547	c.3448C>T	c.(3448-3450)CCT>TCT	p.P1150S	SMARCA2_uc003zhd.2_Missense_Mutation_p.P1150S|SMARCA2_uc010mha.2_Missense_Mutation_p.P1083S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1150	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGACTGGAATCCTCATCAGGT	0.478		NaN											0	0	0	0.043863	0	20	8		Valid		
KIAA1797	54914	broad.mit.edu	37	9	20874759	20874759	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:20874759C>G	uc003zog.1	+	21	2633	c.2270C>G	c.(2269-2271)TCT>TGT	p.S757C	KIAA1797_uc003zoh.1_Missense_Mutation_p.S193C	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	757						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTTCCTGGCTCTTGCTATCTC	0.408		NaN											0	0	0	0.062417	0	23	22				
UNC13B	10497	broad.mit.edu	37	9	35386232	35386232	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:35386232C>T	uc003zwq.2	+	23	3081	c.2789C>T	c.(2788-2790)TCC>TTC	p.S930F	UNC13B_uc003zwr.2_Missense_Mutation_p.S930F	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	930					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTTTGAACTCCACATATGAA	0.493		NaN											0	0	0	0.099896	0	27	16				
GDA	9615	broad.mit.edu	37	9	74764526	74764526	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:74764526C>T	uc004aiq.2	+	1	234	c.51C>T	c.(49-51)TTC>TTT	p.F17F	GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Silent_p.F17F|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAGGGACGTTCGTCCACTCCA	0.697		NaN											0	0	0	0.02938	0	6	8				
STOM	2040	broad.mit.edu	37	9	124110421	124110421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:124110421G>C	uc004blh.2	-	6	612	c.532C>G	c.(532-534)CTG>GTG	p.L178V	STOM_uc011lyk.1_Missense_Mutation_p.L127V|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	178	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GCATCATCCAGAGTAGACTGT	0.502		NaN											0	0	0	0.09836	0	39	21				
VAV2	7410	broad.mit.edu	37	9	136804249	136804249	+	Silent	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:136804249G>T	uc004ces.2	-	2	343	c.297C>A	c.(295-297)CTC>CTA	p.L99L	VAV2_uc004cer.2_Silent_p.L99L	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	99	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCACATCGAAGAGGTCAAAGG	0.532		NaN											1	0	2.24059e-21	0.030593	2.3741e-21	30	107				
COL5A1	1289	broad.mit.edu	37	9	137593102	137593102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:137593102C>T	uc004cfe.2	+	4	959	c.577C>T	c.(577-579)CGC>TGC	p.R193C		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	193	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATTCCTCGACCGCAGCGACCA	0.517		NaN											0	0	0	0.099896	0	25	28				
KCNT1	57582	broad.mit.edu	37	9	138645821	138645821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:138645821C>T	uc011mdq.1	+	5	547	c.473C>T	c.(472-474)TCG>TTG	p.S158L	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.S110L|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	158						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TTCAATGACTCGTCCTCCGAG	0.622		NaN											0	0	0	0.034045	0	29	66				
EHMT1	79813	broad.mit.edu	37	9	140707937	140707937	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr9:140707937C>T	uc011mfc.1	+	21	3172	c.3135C>T	c.(3133-3135)TGC>TGT	p.C1045C	EHMT1_uc004coe.2_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1045					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAACTGCGTGACGTCCC	0.582		NaN											0	0	0	0.080935	0	10	30				
ATXN3L	92552	broad.mit.edu	37	X	13337636	13337636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:13337636G>T	uc010ned.2	-	1	883	c.418C>A	c.(418-420)CCA>ACA	p.P140T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	140	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						ATTAATTCTGGACCCGCCAAG	0.333		NaN											1	0	6.31663e-08	0.024245	6.50756e-08	14	7				
CXorf23	256643	broad.mit.edu	37	X	19947930	19947930	+	Silent	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:19947930G>A	uc004czp.2	-	10	1992	c.1992C>T	c.(1990-1992)TTC>TTT	p.F664F	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.F643F	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	693						mitochondrion				lung(1)|skin(1)	2						ATCTTTCTCTGAACTTATGAG	0.333		NaN											0	0	0	0.048971	0	76	17				
DGKK	139189	broad.mit.edu	37	X	50121635	50121635	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:50121635C>A	uc010njr.1	-	21	2977	c.2917G>T	c.(2917-2919)GGT>TGT	p.G973C		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	973					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TGCACAGAACCAAAGATTGCC	0.537		NaN											1	0	6.4e-05	0.004672	6.49529e-05	3	2				
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:54841756G>T	uc004dtk.1	+	12	1556	c.1462G>T	c.(1462-1464)GAG>TAG	p.E488*	MAGED2_uc004dtl.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dtm.1_Nonsense_Mutation_p.E403*|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Nonsense_Mutation_p.E488*|MAGED2_uc004dto.1_Nonsense_Mutation_p.E462*	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488										ovary(2)|breast(1)	3						ggctgcagctgaggctgcagc	0.478		NaN											1	0	9.62906e-15	0.086207	1.01241e-14	36	11				
ZC4H2	55906	broad.mit.edu	37	X	64139077	64139077	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:64139077C>T	uc004dvu.2	-	4	494	c.406G>A	c.(406-408)GAG>AAG	p.E136K	ZC4H2_uc004dvv.2_Missense_Mutation_p.E113K|ZC4H2_uc011mov.1_Missense_Mutation_p.E113K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	136							metal ion binding|protein binding			ovary(1)	1						TTCTGCTTCTCAAAGTAACTT	0.532		NaN											0	0	0	0.069288	0	22	9				
PCDH19	57526	broad.mit.edu	37	X	99663458	99663458	+	Silent	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:99663458C>T	uc010nmz.2	-	1	1814	c.138G>A	c.(136-138)GCG>GCA	p.A46A	PCDH19_uc004efw.3_Silent_p.A46A|PCDH19_uc004efx.3_Silent_p.A46A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	46	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CCGCCTCTCGCGCGTCTTTGG	0.632		NaN											0	0	0	0.058154	0	8	8				
TBC1D8B	54885	broad.mit.edu	37	X	106082551	106082551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:106082551C>T	uc004emo.2	+	8	1382	c.1217C>T	c.(1216-1218)TCT>TTT	p.S406F	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.S406F	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	406						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTATTAGTTCTGAGTCTACA	0.348		NaN											0	0	0	0.049695	0	18	22				
ABCD1	215	broad.mit.edu	37	X	152991184	152991184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chrX:152991184G>A	uc004fif.2	+	1	862	c.463G>A	c.(463-465)GAG>AAG	p.E155K	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	155	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTACCTGGAGGGCCAACT	0.642		NaN											0	0	0	0.041601	0	31	7				
ACAP3	116983	broad.mit.edu	37	1	1235416	1235416	+	Missense_Mutation	SNP	G	G	T	rs147197474	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:1235416G>T	uc001aeb.2	-	8	674	c.600C>A	c.(598-600)TTC>TTA	p.F200L	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.F158L|ACAP3_uc001aec.1_Missense_Mutation_p.F158L	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	200					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CCTGCTGGAAGAAGCTGGACT	0.657		NaN											1	0	6.17242e-35	0.01441	6.65509e-35	49	64				
MEGF6	1953	broad.mit.edu	37	1	3425647	3425647	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:3425647T>C	uc001akl.2	-	12	1747	c.1520A>G	c.(1519-1521)GAG>GGG	p.E507G	MEGF6_uc001akk.2_Missense_Mutation_p.E402G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	507						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCAAACTTCTCTGTGAGCGT	0.672		NaN											0	0	0	0.010729	0	11	29				
CASZ1	54897	broad.mit.edu	37	1	10720282	10720282	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:10720282G>A	uc001aro.2	-	6	1137	c.817C>T	c.(817-819)CTG>TTG	p.L273L	CASZ1_uc001arp.1_Silent_p.L273L|CASZ1_uc009vmx.2_Silent_p.L297L|CASZ1_uc001arq.1_Silent_p.L132L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	273				L -> P (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGCCGGGCAGGGTGCCCACC	0.687		NaN											0	0	0	0.01441	0	110	106				
ARHGEF19	128272	broad.mit.edu	37	1	16532689	16532689	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:16532689C>G	uc001ayc.1	-	7	1421	c.1284G>C	c.(1282-1284)AAG>AAC	p.K428N	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	428	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGCTCTTGACCTCGG	0.637		NaN											0	0	0	0.006122	0	17	9				
DHDDS	79947	broad.mit.edu	37	1	26772806	26772806	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:26772806G>A	uc001bml.2	+	5	445	c.324_splice	c.e5-1	p.K108_splice	DHDDS_uc001bmk.2_Splice_Site_p.K108_splice|DHDDS_uc001bmm.2_Splice_Site_p.K15_splice|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Splice_Site_p.K108_splice	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCCTGATCAGGGAGAAACTG	0.483		NaN											0	0	0	0.001855	0	13	61				
EPB41	2035	broad.mit.edu	37	1	29438879	29438879	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:29438879G>C	uc001brm.1	+	18	2423	c.2416_splice	c.e18-1	p.T806_splice	EPB41_uc001brg.1_Splice_Site_p.T583_splice|EPB41_uc001brh.1_Splice_Site_p.T530_splice|EPB41_uc001bri.1_Splice_Site_p.T717_splice|EPB41_uc001brj.1_Splice_Site_p.T543_splice|EPB41_uc001brl.1_Splice_Site_p.T773_splice|EPB41_uc009vtl.1_Splice_Site_p.T500_splice|EPB41_uc009vtm.1_Splice_Site_p.T385_splice|EPB41_uc009vtn.1_Splice_Site	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTGGTTCCAGACTGTAAAAG	0.299		NaN											0	0	0	0.005524	0	35	95				
SFPQ	6421	broad.mit.edu	37	1	35656103	35656103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35656103G>A	uc001bys.2	-	4	1504	c.1411C>T	c.(1411-1413)CAA>TAA	p.Q471*	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	471					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTACTTTTGATACATTGGA	0.308		NaN	T	TFE3	papillary renal cell								0	0	0	0.00245	0	14	12				
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35915495C>G	uc001byx.2	-	15	2584	c.2326G>C	c.(2326-2328)GAC>CAC	p.D776H	KIAA0319L_uc001byw.2_Missense_Mutation_p.D218H|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418H	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	776	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGTCCGGTCTGTGTCACTC	0.483		NaN											0	0	0	0.009535	0	31	49				
SLC2A1	6513	broad.mit.edu	37	1	43394663	43394663	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:43394663G>A	uc001cik.2	-	8	1539	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	338	Helical; Name=9; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGAGGCCTATGAGGTGCAGGG	0.622		NaN											0	0	0	0.01441	0	50	120				
ELAVL4	1996	broad.mit.edu	37	1	50642818	50642818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:50642818C>T	uc001csb.2	+	3	576	c.308C>T	c.(307-309)GCC>GTC	p.A103V	ELAVL4_uc001cry.3_Missense_Mutation_p.A106V|ELAVL4_uc001crz.3_Missense_Mutation_p.A103V|ELAVL4_uc001csa.3_Missense_Mutation_p.A120V|ELAVL4_uc001csc.3_Missense_Mutation_p.A103V|ELAVL4_uc009vyu.2_Missense_Mutation_p.A108V|ELAVL4_uc010omz.1_Missense_Mutation_p.A108V	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	103	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCAGAGAAAGCCATCAACACT	0.343		NaN											0	0	0	0.010504	0	19	47				
C1orf177	163747	broad.mit.edu	37	1	55277826	55277826	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:55277826G>C	uc001cyb.3	+	6	780	c.726G>C	c.(724-726)CGG>CGC	p.R242R	C1orf177_uc001cya.3_Silent_p.R242R	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	242											0						CTGGTGATCGGAGCAAGCCAC	0.577		NaN											0	0	0	0.004656	0	24	49				
TYW3	127253	broad.mit.edu	37	1	75229767	75229767	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:75229767C>G	uc001dgn.2	+	6	839	c.750C>G	c.(748-750)ATC>ATG	p.I250M	TYW3_uc010oqw.1_Missense_Mutation_p.I217M|TYW3_uc010oqx.1_Missense_Mutation_p.I166M|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	250					tRNA processing		methyltransferase activity			ovary(2)	2						ATCTAGGAATCAATGTTACCA	0.348		NaN											0	0	0	0.007413	0	16	178				
AGL	178	broad.mit.edu	37	1	100349714	100349714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100349714G>C	uc001dsi.1	+	18	2747	c.2347G>C	c.(2347-2349)GAG>CAG	p.E783Q	AGL_uc001dsj.1_Missense_Mutation_p.E783Q|AGL_uc001dsk.1_Missense_Mutation_p.E783Q|AGL_uc001dsl.1_Missense_Mutation_p.E783Q|AGL_uc001dsm.1_Missense_Mutation_p.E767Q|AGL_uc001dsn.1_Missense_Mutation_p.E766Q	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	783	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGAACTATTGAGAGAAACAC	0.328		NaN											0	0	0	0.007835	0	41	36				
CCDC76	54482	broad.mit.edu	37	1	100613733	100613733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100613733G>C	uc001dsv.2	+	10	1120	c.1101G>C	c.(1099-1101)ATG>ATC	p.M367I	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	367					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TCCAGCGAATGAGTAGTTGGG	0.433		NaN											0	0	0	0.011902	0	44	48				
AMY2A	279	broad.mit.edu	37	1	104160108	104160108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:104160108C>T	uc001dut.2	+	1	110	c.46C>T	c.(46-48)CAG>TAG	p.Q16*	AMY2A_uc010ouq.1_Nonsense_Mutation_p.Q16*	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	16					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	CTGCTGGGCTCAGTATTCCCC	0.398		NaN											0	0	0	0.01441	0	40	160				
OVGP1	5016	broad.mit.edu	37	1	111966266	111966266	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:111966266G>A	uc001eba.2	-	5	438	c.382C>T	c.(382-384)CTG>TTG	p.L128L	OVGP1_uc001eaz.2_Silent_p.L90L|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Silent_p.L118L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	128					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGTGTCCTCAGAAGGGATATA	0.433		NaN											0	0	0	0.013114	0	47	48				
ADAM30	11085	broad.mit.edu	37	1	120437228	120437228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:120437228G>C	uc001eij.2	-	1	1886	c.1732C>G	c.(1732-1734)CAT>GAT	p.H578D		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	578	Cys-rich.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCTGTAAATGAGTAGAAATT	0.408		NaN											0	0	0	0.01441	0	76	79				
GPR89A	653519	broad.mit.edu	37	1	145771670	145771670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145771670C>T	uc001eot.2	-	11	1144	c.970G>A	c.(970-972)GAG>AAG	p.E324K	NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.E22K|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.E248K|GPR89A_uc010ozb.1_Missense_Mutation_p.E299K|GPR89A_uc001eos.2_Missense_Mutation_p.E204K|GPR89A_uc010ozc.1_Missense_Mutation_p.E299K|GPR89A_uc010ozd.1_Missense_Mutation_p.E271K|GPR89A_uc010oze.1_Missense_Mutation_p.E324K	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A isoform 1	324					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ACAGTGATCTCAATGCCTCTT	0.363		NaN											0	0	0	0.003755	0	24	72				
GPR89A	653519	broad.mit.edu	37	1	145771715	145771715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145771715C>G	uc001eot.2	-	11	1099	c.925G>C	c.(925-927)GTT>CTT	p.V309L	NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.V7L|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.V233L|GPR89A_uc010ozb.1_Missense_Mutation_p.V284L|GPR89A_uc001eos.2_Missense_Mutation_p.V189L|GPR89A_uc010ozc.1_Missense_Mutation_p.V284L|GPR89A_uc010ozd.1_Missense_Mutation_p.V256L|GPR89A_uc010oze.1_Missense_Mutation_p.V309L	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A isoform 1	309	Helical; (Potential).				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CGATCAAAAACAATATTGATG	0.353		NaN											0	0	0	0.005443	0	21	60				
ARNT	405	broad.mit.edu	37	1	150795814	150795814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:150795814T>C	uc001evr.1	-	14	1393	c.1250A>G	c.(1249-1251)AAA>AGA	p.K417R	ARNT_uc001evs.1_Missense_Mutation_p.K402R|ARNT_uc009wmb.1_Missense_Mutation_p.K403R|ARNT_uc009wmc.1_Missense_Mutation_p.K417R|ARNT_uc009wmd.1_Missense_Mutation_p.K402R|ARNT_uc009wme.1_Intron|ARNT_uc010pcl.1_Missense_Mutation_p.K401R	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	417	PAS 2.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTTTTAATTTCACTACCTG	0.368		NaN	T	ETV6	AML								0	0	0	0.01441	0	69	61				
C1orf56	54964	broad.mit.edu	37	1	151022921	151022921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:151022921G>A	uc001ewn.2	+	2	1078	c.1013G>A	c.(1012-1014)AGA>AAA	p.R338K		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	338						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGATAGACAGAAACCAGAGG	0.413		NaN											0	0	0	0.004878	0	34	133				
FLG	2312	broad.mit.edu	37	1	152276031	152276031	+	Silent	SNP	C	C	T	rs147295587	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152276031C>T	uc001ezu.1	-	3	11367	c.11331G>A	c.(11329-11331)TCG>TCA	p.S3777S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCGT	0.587		NaN							Ichthyosis				0	0	0	0.01441	0	140	467				
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152277865C>T	uc001ezu.1	-	3	9533	c.9497G>A	c.(9496-9498)CGT>CAT	p.R3166H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552		NaN							Ichthyosis				0	0	0	0.01441	0	103	360				
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:153920995G>A	uc010ped.1	-	13	1870	c.1800C>T	c.(1798-1800)TTC>TTT	p.F600F	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.F136F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592		NaN											0	0	0	0.01441	0	116	109				
INSRR	3645	broad.mit.edu	37	1	156823546	156823546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:156823546C>G	uc010pht.1	-	2	889	c.635G>C	c.(634-636)AGA>ACA	p.R212T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R212T	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	212					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCCCACCTCTCTGGCAGTG	0.607		NaN											0	0	0	0.00874	0	35	132				
CRP	1401	broad.mit.edu	37	1	159683510	159683510	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:159683510G>A	uc001ftw.2	-	2	584	c.480C>T	c.(478-480)TTC>TTT	p.F160F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	160	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGTTCCCACCGAAGGAATCCT	0.517		NaN											0	0	0	0.01441	0	116	250				
C1orf114	57821	broad.mit.edu	37	1	169394120	169394120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169394120C>T	uc001gga.1	-	2	214	c.46G>A	c.(46-48)GAA>AAA	p.E16K	C1orf114_uc001gfz.1_Missense_Mutation_p.E16K|C1orf114_uc009wvq.1_Missense_Mutation_p.E16K|C1orf114_uc001ggb.2_Missense_Mutation_p.E16K|C1orf114_uc001ggc.1_Missense_Mutation_p.E16K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	16											0	all_hematologic(923;0.208)					AAGTCATCTTCGTATTCTTCA	0.289		NaN											0	0	0	0.008871	0	17	43				
F5	2153	broad.mit.edu	37	1	169511937	169511937	+	Silent	SNP	G	G	C	rs139113111		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169511937G>C	uc001ggg.1	-	13	2536	c.2391C>G	c.(2389-2391)GCC>GCG	p.A797A		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	797	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGAGAAGGGGCTTTCTGAG	0.433		NaN											0	0	0	0.00874	0	41	114				
LAMC1	3915	broad.mit.edu	37	1	183096378	183096378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:183096378G>A	uc001gpy.3	+	17	3219	c.2962G>A	c.(2962-2964)GAG>AAG	p.E988K		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	988	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCATCCTGAGGGATCTCT	0.378		NaN											0	0	0	0.001855	0	13	36				
CNTN2	6900	broad.mit.edu	37	1	205042279	205042279	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:205042279C>T	uc001hbr.2	+	22	3197	c.2928C>T	c.(2926-2928)GAC>GAT	p.D976D	CNTN2_uc001hbs.2_Silent_p.D764D	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	976	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTGAAGACATTGGCCATG	0.567		NaN											0	0	0	0.008361	0	30	40				
RAB3GAP2	25782	broad.mit.edu	37	1	220364531	220364531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:220364531G>A	uc010puk.1	-	14	1530	c.1366C>T	c.(1366-1368)CAG>TAG	p.Q456*	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Nonsense_Mutation_p.Q36*	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	456					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		CTTGGACCCTGAGAATTTCCA	0.478		NaN											0	0	0	0.00632	0	28	51				
KIAA1804	84451	broad.mit.edu	37	1	233489599	233489599	+	Missense_Mutation	SNP	C	C	T	rs145103476		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:233489599C>T	uc001hvt.3	+	3	1294	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	KIAA1804_uc001hvs.1_Missense_Mutation_p.R345W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	345	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGTCCCCTATCGGGGCATTGA	0.507		NaN											0	0	0	0.006122	0	19	77				
RYR2	6262	broad.mit.edu	37	1	237813229	237813229	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:237813229C>T	uc001hyl.1	+	50	7685	c.7565C>T	c.(7564-7566)ACA>ATA	p.T2522I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2522	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCTTTGCACAGCCGTCTTG	0.463		NaN											0	0	0	0.010771	0	43	133				
ZP4	57829	broad.mit.edu	37	1	238053778	238053778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:238053778G>A	uc001hym.2	-	1	158	c.158C>T	c.(157-159)CCT>CTT	p.P53L	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	53	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TATTAGTACAGGAGGAGACGT	0.488		NaN											0	0	0	0.013537	0	10	48				
ADSS	159	broad.mit.edu	37	1	244582145	244582145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:244582145G>C	uc001iaj.2	-	9	1156	c.862C>G	c.(862-864)CAA>GAA	p.Q288E		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	288					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCAACATTTTGAGGTGGCATA	0.378		NaN											0	0	0	0.006214	0	9	31				
TUBB8	347688	broad.mit.edu	37	10	93965	93965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93965C>G	uc001ifi.2	-	4	367	c.367G>C	c.(367-369)GAG>CAG	p.E123Q	TUBB8_uc009xhe.2_Missense_Mutation_p.E86Q|TUBB8_uc010pzs.1_Missense_Mutation_p.E51Q	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	123					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCTCAGCCTCCTTTCTGACA	0.597		NaN											0	0	0	0.004007	0	12	167				
FRMD4A	55691	broad.mit.edu	37	10	13698803	13698803	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:13698803C>T	uc001ims.2	-	22	3138	c.2786G>A	c.(2785-2787)CGC>CAC	p.R929H	FRMD4A_uc009xjf.1_Missense_Mutation_p.R929H	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	929						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GTACCACTGGCGCAGCTCGTC	0.711		NaN											0	0	0	0.010729	0	10	72				
ZNF33B	7582	broad.mit.edu	37	10	43088106	43088106	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:43088106G>A	uc001jaf.1	-	5	2407	c.2292C>T	c.(2290-2292)CTC>CTT	p.L764L	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L652L|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	764	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GATGTACAATGAGATTTGACT	0.393		NaN											0	0	0	0.009535	0	30	229				
MYPN	84665	broad.mit.edu	37	10	69925571	69925571	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:69925571G>C	uc001jnm.3	+	10	1781	c.1596G>C	c.(1594-1596)GTG>GTC	p.V532V	MYPN_uc001jnl.1_Silent_p.V532V|MYPN_uc001jnn.3_Silent_p.V257V|MYPN_uc001jno.3_Silent_p.V532V|MYPN_uc009xps.2_Silent_p.V532V|MYPN_uc009xpt.2_Silent_p.V532V|MYPN_uc010qit.1_Silent_p.V238V|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	532						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						AGCTGCACGTGAGAGGTAAGG	0.428		NaN											0	0	0	0.014323	0	18	117				
DDX21	9188	broad.mit.edu	37	10	70738718	70738718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:70738718C>G	uc001jov.1	+	13	2113	c.2023C>G	c.(2023-2025)CTC>GTC	p.L675V	DDX21_uc001jow.1_Missense_Mutation_p.L607V	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	675						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						AATGGTTTTTCTCAAAGGAAA	0.458		NaN											0	0	0	0.003755	0	32	150				
USP54	159195	broad.mit.edu	37	10	75279710	75279710	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75279710C>A	uc001juo.2	-	17	2540	c.2523G>T	c.(2521-2523)ACG>ACT	p.T841T	USP54_uc010qkk.1_Silent_p.T23T|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.T841T	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	841					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTCTGCTGTGCGTGCTACAGC	0.378		NaN											1	0	2.56e-06	0.009096	2.61753e-06	4	45				
KIAA0913	23053	broad.mit.edu	37	10	75548903	75548903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75548903G>A	uc009xrl.2	+	3	444	c.412G>A	c.(412-414)GAT>AAT	p.D138N	KIAA0913_uc001jve.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvf.2_Missense_Mutation_p.D138N|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	138							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					TCAGCGAGGGGATCAGCTCTT	0.567		NaN											0	0	0	0.01441	0	65	67				
LRIT1	26103	broad.mit.edu	37	10	85992365	85992365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:85992365G>C	uc001kcz.1	-	4	1212	c.1190C>G	c.(1189-1191)TCT>TGT	p.S397C		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	397	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GCTGGGCACAGAGGGTCCAGT	0.617		NaN											0	0	0	0.004878	0	36	109				
GRID1	2894	broad.mit.edu	37	10	87373287	87373287	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:87373287G>C	uc001kdl.1	-	15	2579	c.2478C>G	c.(2476-2478)CTC>CTG	p.L826L	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.L397L	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	826	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGTGCAGCTTGAGGGATTTGC	0.647		NaN								Multiple Myeloma(13;0.14)			0	0	0	0.010504	0	19	100				
CH25H	9023	broad.mit.edu	37	10	90966884	90966884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:90966884C>T	uc001kfz.2	-	1	188	c.166G>A	c.(166-168)GTG>ATG	p.V56M		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	56	Helical; (Potential).				bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TCCAGGACCACGAAGGGCAGG	0.632		NaN											0	0	0	0.004007	0	15	53				
SLIT1	6585	broad.mit.edu	37	10	98762697	98762697	+	Silent	SNP	G	G	A	rs148583876		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98762697G>A	uc001kmw.2	-	35	4170	c.3918C>T	c.(3916-3918)AAC>AAT	p.N1306N		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1306	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCCGGTGCCGTTGAGGATCT	0.607		NaN											0	0	0	0.01441	0	69	331				
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98823297G>A	uc001kmw.2	-	8	960	c.708C>T	c.(706-708)ATC>ATT	p.I236I	SLIT1_uc009xvh.1_Silent_p.I236I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647		NaN											0	0	0	0.009535	0	28	21				
PNLIPRP3	119548	broad.mit.edu	37	10	118236220	118236220	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236220T>C	uc001lcl.3	+	11	1330	c.1229T>C	c.(1228-1230)GTT>GCT	p.V410A		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	410	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		GATGTTAACGTTGGAAACATT	0.358		NaN											0	0	0	0.01441	0	59	60				
PNLIPRP3	119548	broad.mit.edu	37	10	118236306	118236306	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236306A>C	uc001lcl.3	+	11	1416	c.1315A>C	c.(1315-1317)AAT>CAT	p.N439H		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	439	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		AATGGTGATAAATACATCTGG	0.308		NaN											0	0	0	0.010771	0	41	46				
C11orf35	256329	broad.mit.edu	37	11	558000	558000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:558000G>A	uc001lpx.2	-	5	502	c.439C>T	c.(439-441)CGC>TGC	p.R147C	uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	147	Potential.									pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCGTGCGGGTGGTCTGC	0.672		NaN											0	0	0	0.01441	0	60	63				
OR52N4	390072	broad.mit.edu	37	11	5776753	5776753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5776753C>G	uc001mbu.2	+	1	831	c.783C>G	c.(781-783)TTC>TTG	p.F261L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTTCTCCTTCTTTTCCCACC	0.478		NaN											0	0	0	0.007291	0	29	72				
STK33	65975	broad.mit.edu	37	11	8457652	8457652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8457652C>T	uc001mgi.1	-	9	1901	c.982G>A	c.(982-984)GAA>AAA	p.E328K	STK33_uc001mgj.1_Missense_Mutation_p.E328K|STK33_uc001mgk.1_Missense_Mutation_p.E328K|STK33_uc010rbn.1_Missense_Mutation_p.E287K|STK33_uc001mgl.3_Missense_Mutation_p.E141K|STK33_uc009yfp.2_Missense_Mutation_p.E50K	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	328	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCTTCTCTTCTGAGCTTGCC	0.308		NaN											0	0	0	0.008871	0	19	31				
STK33	65975	broad.mit.edu	37	11	8496434	8496434	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8496434C>G	uc001mgi.1	-	1	938	c.19G>C	c.(19-21)GAT>CAT	p.D7H	STK33_uc001mgj.1_Missense_Mutation_p.D7H|STK33_uc001mgk.1_Missense_Mutation_p.D7H|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	7						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GATTTTTTATCTAAGCCACTA	0.393		NaN											0	0	0	0.003954	0	24	57				
KCNJ11	3767	broad.mit.edu	37	11	17409306	17409306	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:17409306G>A	uc001mna.2	-	1	901	c.333C>T	c.(331-333)GTC>GTT	p.V111V	KCNJ11_uc001mnb.3_Silent_p.V24V	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	111						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GGATGCTGGTGACACAGGGCT	0.622		NaN											0	0	0	0.013726	0	32	51				
QSER1	79832	broad.mit.edu	37	11	32997931	32997931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:32997931C>T	uc001mty.2	+	13	5386	c.5119C>T	c.(5119-5121)CAA>TAA	p.Q1707*	QSER1_uc001mtz.1_Nonsense_Mutation_p.Q1468*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1707										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGAAATTGTTCAACTTTGTAT	0.318		NaN											0	0	0	0.007413	0	19	32				
ACCS	84680	broad.mit.edu	37	11	44089398	44089398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:44089398G>A	uc009yks.1	+	2	365	c.221G>A	c.(220-222)TGG>TAG	p.W74*	ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Nonsense_Mutation_p.W74*|ACCS_uc001mxx.2_Nonsense_Mutation_p.W74*	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	74							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						AAATGGTTCTGGGATTCAGCT	0.537		NaN											0	0	0	0.004656	0	28	37				
MAPK8IP1	9479	broad.mit.edu	37	11	45924153	45924153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:45924153G>A	uc001nbr.2	+	5	1005	c.835G>A	c.(835-837)GAG>AAG	p.E279K		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	279	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		AGAGGCCACTGAGGAGATCTA	0.682		NaN											0	0	0	0.004289	0	37	70				
HARBI1	283254	broad.mit.edu	37	11	46637415	46637415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:46637415C>T	uc001ncy.2	-	2	621	c.373G>A	c.(373-375)GAA>AAA	p.E125K	KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	125						cytoplasm|nucleus	metal ion binding|nuclease activity				0						ATGGAGGCTTCATCAGCTGGA	0.522		NaN											0	0	0	0.01441	0	134	230				
P2RX3	5024	broad.mit.edu	37	11	57106039	57106039	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:57106039C>T	uc001nju.2	+	1	91	c.15C>T	c.(13-15)TCC>TCT	p.S5S	SSRP1_uc001njt.2_5'Flank	NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	5	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						ACTGCATATCCGACTTCTTCA	0.542		NaN											0	0	0	0.01441	0	129	273				
DAGLA	747	broad.mit.edu	37	11	61487650	61487650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:61487650G>A	uc001nsa.2	+	2	134	c.23G>A	c.(22-24)CGG>CAG	p.R8Q		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	8	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTGGTGTTCCGGCGGCGCTGG	0.632		NaN											0	0	0	0.01441	0	52	96				
SLC22A12	116085	broad.mit.edu	37	11	64360266	64360266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:64360266G>C	uc001oam.1	+	2	1165	c.418G>C	c.(418-420)GAC>CAC	p.D140H	SLC22A12_uc009ypr.1_Missense_Mutation_p.D140H|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D140H|SLC22A12_uc001oan.1_Missense_Mutation_p.D140H|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	140					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CCTCGTGTGTGACTCTCATGC	0.642		NaN											0	0	0	0.01441	0	96	397				
CD248	57124	broad.mit.edu	37	11	66083610	66083610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66083610G>A	uc001ohm.1	-	1	906	c.889C>T	c.(889-891)CGC>TGC	p.R297C		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	297	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	AAACCCAGGCGACAGTGGCAG	0.647		NaN											0	0	0	0.01441	0	61	62				
RBM14	10432	broad.mit.edu	37	11	66392969	66392969	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66392969G>A	uc001oit.2	+	2	1761	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	541	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GCCTCCTACCGCGGCCAGCCA	0.657		NaN											0	0	0	0.006122	0	14	110				
RBM4	5936	broad.mit.edu	37	11	66407491	66407491	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66407491G>A	uc009yrj.2	+	2	797	c.309G>A	c.(307-309)CCG>CCA	p.P103P	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.P103P|RBM4_uc001oiw.1_Silent_p.P103P|RBM4_uc001oix.1_Silent_p.P103P|RBM4_uc010rpj.1_Silent_p.P103P|RBM4_uc001oiy.1_Silent_p.P103P|RBM4_uc001oiz.1_Silent_p.P103P	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	103	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGTATGGTCCGGTCATCGAAT	0.498		NaN											0	0	0	0.01441	0	187	118				
SUV420H1	51111	broad.mit.edu	37	11	67934619	67934619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:67934619C>G	uc001onm.1	-	10	1260	c.1004G>C	c.(1003-1005)AGA>ACA	p.R335T	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.R163T|SUV420H1_uc009ysf.2_Missense_Mutation_p.R95T|SUV420H1_uc001ono.1_Missense_Mutation_p.R335T|SUV420H1_uc001onp.2_Missense_Mutation_p.R335T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R312T|SUV420H1_uc001onq.2_Missense_Mutation_p.R335T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CAGTCCCACTCTGGATTTAAA	0.408		NaN											0	0	0	0.006214	0	9	76				
FGF3	2248	broad.mit.edu	37	11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	rs150581924	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69631101C>T	uc001oph.2	-	2	802	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	104					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597		NaN											0	0	0	0.01441	0	62	888				
USP35	57558	broad.mit.edu	37	11	77907438	77907438	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:77907438C>T	uc009yva.1	+	2	393	c.147C>T	c.(145-147)TAC>TAT	p.Y49Y	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Translation_Start_Site|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	49					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGCGCCTCTACGTGGGCGGCG	0.766		NaN											0	0	0	0.006214	0	8	57				
MRE11A	4361	broad.mit.edu	37	11	94194101	94194101	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:94194101C>G	uc001peu.2	-	12	1515	c.1326_splice	c.e12+1	p.K442_splice	MRE11A_uc001pev.2_Splice_Site_p.K442_splice|MRE11A_uc009ywj.2_Splice_Site_p.K445_splice	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1						DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TAAGAAATTACCTTCTCTGCG	0.318		NaN						Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				0	0	0	0.001984	0	7	15				
EXPH5	23086	broad.mit.edu	37	11	108384189	108384189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:108384189G>A	uc001pkk.2	-	6	2156	c.2045C>T	c.(2044-2046)TCT>TTT	p.S682F	EXPH5_uc010rvy.1_Missense_Mutation_p.S494F|EXPH5_uc010rvz.1_Missense_Mutation_p.S526F|EXPH5_uc010rwa.1_Missense_Mutation_p.S606F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	682					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAGGCAGAGAGTCAACTGA	0.413		NaN											0	0	0	0.013726	0	32	45				
TECTA	7007	broad.mit.edu	37	11	121008294	121008294	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:121008294T>G	uc010rzo.1	+	10	3106	c.3106T>G	c.(3106-3108)TGT>GGT	p.C1036G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1036	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGAGTGAGTGTGGCTGCAA	0.572		NaN											0	0	0	0.008871	0	17	32				
EFCAB4B	84766	broad.mit.edu	37	12	3806003	3806003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:3806003C>A	uc001qmj.2	-	4	735	c.163G>T	c.(163-165)GCA>TCA	p.A55S	EFCAB4B_uc010sen.1_Missense_Mutation_p.A55S|EFCAB4B_uc010seo.1_Missense_Mutation_p.A55S	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	55	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AACTCCTGTGCCTTCCTCAGC	0.597		NaN											1	0	0.000175454	0.010504	0.000177404	18	82				
ANO2	57101	broad.mit.edu	37	12	5848494	5848494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:5848494C>T	uc001qnm.2	-	13	1483	c.1411G>A	c.(1411-1413)GAA>AAA	p.E471K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	476	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TCTTCCTCTTCTATGCCAGTC	0.433		NaN											0	0	0	0.004672	0	3	13				
A2ML1	144568	broad.mit.edu	37	12	9004565	9004565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:9004565G>A	uc001quz.3	+	19	2518	c.2420G>A	c.(2419-2421)CGT>CAT	p.R807H	A2ML1_uc001qva.1_Missense_Mutation_p.R387H|A2ML1_uc010sgm.1_Missense_Mutation_p.R307H	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	651						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GAATCCTTTCGTCTTACTGCC	0.507		NaN											0	0	0	0.007835	0	41	173				
ETV6	2120	broad.mit.edu	37	12	12022825	12022825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022825G>A	uc001qzz.2	+	5	1205	c.931G>A	c.(931-933)GAC>AAC	p.D311N	ETV6_uc001raa.1_Missense_Mutation_p.D104N	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	311						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCATCGGGAAGACCTGGCTTA	0.582		NaN	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								0	0	0	0.01441	0	81	116				
ETV6	2120	broad.mit.edu	37	12	12022873	12022873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022873G>C	uc001qzz.2	+	5	1253	c.979G>C	c.(979-981)GAG>CAG	p.E327Q	ETV6_uc001raa.1_Missense_Mutation_p.E120Q	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	327						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGCCTGAAGAGCACGCCAT	0.582		NaN	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								0	0	0	0.01441	0	68	86				
LOH12CR1	118426	broad.mit.edu	37	12	12514236	12514236	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12514236A>T	uc001ral.2	+	2	521	c.155A>T	c.(154-156)GAT>GTT	p.D52V	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	52										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AACGATCCCGATGTCATCAAG	0.488		NaN											0	0	0	0.012213	0	35	230				
GALNT6	11226	broad.mit.edu	37	12	51757940	51757940	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:51757940C>T	uc001ryk.2	-	5	1239	c.1014G>A	c.(1012-1014)GAG>GAA	p.E338E	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.E338E	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	338	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GCCTCTGCTTCTCATGTGGAG	0.587		NaN											0	0	0	0.01441	0	64	105				
OR6C6	283365	broad.mit.edu	37	12	55688992	55688992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:55688992C>G	uc010sph.1	-	1	25	c.25G>C	c.(25-27)GAG>CAG	p.E9Q		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						AGAATGAACTCTATTTCCATT	0.318		NaN											0	0	0	0.014323	0	19	46				
MBD6	114785	broad.mit.edu	37	12	57921371	57921371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:57921371C>G	uc001soj.1	+	8	2388	c.2164C>G	c.(2164-2166)CTG>GTG	p.L722V	MBD6_uc001sok.1_Missense_Mutation_p.L589V|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	722	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GGCCTCCTCTCTGGGCAAGGC	0.597		NaN											0	0	0	0.01441	0	218	346				
MON2	23041	broad.mit.edu	37	12	62929388	62929388	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:62929388C>T	uc001sre.2	+	14	2190	c.1799C>T	c.(1798-1800)TCA>TTA	p.S600L	MON2_uc009zqj.2_Missense_Mutation_p.S600L|MON2_uc010ssl.1_Missense_Mutation_p.S528L|MON2_uc010ssm.1_Missense_Mutation_p.S600L|MON2_uc010ssn.1_Missense_Mutation_p.S600L|MON2_uc001srf.2_Missense_Mutation_p.S363L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	600					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTGTAACTTCAAGAGATGCC	0.413		NaN											0	0	0	0.01441	0	55	63				
EEA1	8411	broad.mit.edu	37	12	93258690	93258690	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:93258690T>C	uc001tck.2	-	3	456	c.191A>G	c.(190-192)CAT>CGT	p.H64R		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	64	C2H2-type.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						ACCAGCATCATGAACAGCTTC	0.378		NaN											0	0	0	0.010818	0	33	61				
C12orf63	374467	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051735C>G	uc001tet.1	+	4	529	c.451C>G	c.(451-453)CTT>GTT	p.L151V		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	151										skin(6)|ovary(1)	7						TGGTTCTAGTCTTACCTTTGA	0.353		NaN											0	0	0	0.007835	0	38	145				
C12orf63	374467	broad.mit.edu	37	12	97051869	97051869	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051869C>T	uc001tet.1	+	4	663	c.585C>T	c.(583-585)TTC>TTT	p.F195F		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	195										skin(6)|ovary(1)	7						CCATTCAGTTCAATACAGTTT	0.303		NaN											0	0	0	0.010729	0	10	50				
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:103288533C>T	uc001tjq.1	-	4	804	c.332G>A	c.(331-333)CGA>CAA	p.R111Q	PAH_uc010swc.1_Missense_Mutation_p.R111Q	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	111					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383		NaN											0	0	0	0.006122	0	18	67				
PRDM4	11108	broad.mit.edu	37	12	108147715	108147715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:108147715C>G	uc001tmp.2	-	4	754	c.317G>C	c.(316-318)AGA>ACA	p.R106T	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	106					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TAGAATGGTTCTGAAATAACT	0.433		NaN											0	0	0	0.011902	0	42	68				
ACAD10	80724	broad.mit.edu	37	12	112182844	112182844	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112182844C>T	uc001tsq.2	+	13	2312	c.2112C>T	c.(2110-2112)CTC>CTT	p.L704L	ACAD10_uc001tsp.2_Silent_p.L704L|ACAD10_uc009zvx.2_Silent_p.L735L|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	704							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TCGAAGACCTCAAGGTAAAGC	0.592		NaN											0	0	0	0.00632	0	29	84				
C12orf51	283450	broad.mit.edu	37	12	112681690	112681690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112681690C>T	uc009zwc.2	-	23	3389	c.3371G>A	c.(3370-3372)AGA>AAA	p.R1124K		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGATTTGCTCTAGTAAATTC	0.458		NaN											0	0	0	0.01441	0	47	171				
C12orf51	283450	broad.mit.edu	37	12	112685315	112685315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112685315C>T	uc009zwc.2	-	21	3040	c.3022G>A	c.(3022-3024)GAA>AAA	p.E1008K		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AAGGAGACTTCCTTCATTGAA	0.318		NaN											0	0	0	0.001168	0	4	7				
TPCN1	53373	broad.mit.edu	37	12	113705698	113705698	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:113705698C>T	uc001tuw.2	+	5	762	c.465C>T	c.(463-465)CTC>CTT	p.L155L	TPCN1_uc001tux.2_Silent_p.L227L|TPCN1_uc010syt.1_Silent_p.L87L	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	155	Helical; Name=S2 of repeat I; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						TGTTTGAACTCTGCATGAAGT	0.607		NaN											0	0	0	0.016522	0	23	37				
UBC	7316	broad.mit.edu	37	12	125396365	125396365	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125396365C>T	uc001ugs.3	-	2	2401	c.1953G>A	c.(1951-1953)TTG>TTA	p.L651L	UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Silent_p.L575L|UBC_uc001ugt.2_Silent_p.L499L|UBC_uc001ugv.2_Silent_p.L119L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	651	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CAGCAAAGATCAACCTCTGCT	0.537		NaN											0	0	0	0.01441	0	123	477				
DHX37	57647	broad.mit.edu	37	12	125461982	125461982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125461982C>T	uc001ugy.2	-	5	892	c.793G>A	c.(793-795)GTG>ATG	p.V265M		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	265	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCTCGGCCACAGCCTCCATG	0.552		NaN											0	0	0	0.01441	0	148	144				
SFRS8	6433	broad.mit.edu	37	12	132203998	132203998	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132203998G>C	uc001uja.1	+	4	661	c.521_splice	c.e4-1	p.E174_splice	SFRS8_uc010tbn.1_Splice_Site_p.E174_splice|SFRS8_uc001ujb.1_Splice_Site|SFRS8_uc001uiz.1_Splice_Site_p.E48_splice	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		TTTTTATGCAGAAAAAAATGA	0.468		NaN											0	0	0	0.01441	0	52	81				
EP400	57634	broad.mit.edu	37	12	132502160	132502160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132502160C>T	uc001ujn.2	+	19	4039	c.4004C>T	c.(4003-4005)CCT>CTT	p.P1335L	EP400_uc001ujl.2_Missense_Mutation_p.P1334L|EP400_uc001ujm.2_Missense_Mutation_p.P1335L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1371					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAACCACCCTGGGCTCGTC	0.607		NaN											0	0	0	0.01441	0	95	141				
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133218793C>T	uc001uks.1	-	38	5187	c.5143G>A	c.(5143-5145)GAG>AAG	p.E1715K	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519K|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1715					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGTTGATCTCAACAGTGGCT	0.557		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	96	113				
POLE	5426	broad.mit.edu	37	12	133219161	133219161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133219161C>G	uc001uks.1	-	37	4927	c.4883G>C	c.(4882-4884)GGA>GCA	p.G1628A	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.G432A|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1628					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCCGGGCTCCATGGCGCTG	0.582		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	69	86				
FLT1	2321	broad.mit.edu	37	13	29008208	29008208	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:29008208G>C	uc001usb.3	-	5	948	c.663C>G	c.(661-663)CTC>CTG	p.L221L	FLT1_uc010aar.1_Silent_p.L221L|FLT1_uc001usc.3_Silent_p.L221L|FLT1_uc010tdp.1_Silent_p.L221L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	221	Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCGATGTGTGAGATAGTTTG	0.353		NaN											0	0	0	0.006122	0	18	66				
FREM2	341640	broad.mit.edu	37	13	39425843	39425843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425843G>A	uc001uwv.2	+	11	7072	c.6763G>A	c.(6763-6765)GAA>AAA	p.E2255K	FREM2_uc001uww.2_Missense_Mutation_p.E341K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2255	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAATTTGGAGAAACCAAATT	0.284		NaN											0	0	0	0.007291	0	30	31				
FREM2	341640	broad.mit.edu	37	13	39425946	39425946	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425946G>C	uc001uwv.2	+	11	7175	c.6866G>C	c.(6865-6867)AGA>ACA	p.R2289T	FREM2_uc001uww.2_Missense_Mutation_p.R375T	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2289	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCATTGTGAGAGTCCACACC	0.512		NaN											0	0	0	0.005524	0	36	39				
MTRF1	9617	broad.mit.edu	37	13	41791298	41791298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:41791298C>G	uc001uxx.2	-	12	1761	c.1291G>C	c.(1291-1293)GAA>CAA	p.E431Q	MTRF1_uc001uxy.2_Missense_Mutation_p.E431Q|MTRF1_uc001uxz.2_Missense_Mutation_p.E267Q|MTRF1_uc010tff.1_3'UTR|uc001uxv.1_Intron|uc001uya.1_5'Flank|uc001uyb.2_5'Flank	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	431					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		GCAATGGCTTCTTCATCTGCT	0.338		NaN											0	0	0	0.015359	0	26	71				
OLFM4	10562	broad.mit.edu	37	13	53624505	53624505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:53624505G>A	uc001vhl.2	+	5	1132	c.1132G>A	c.(1132-1134)GTT>ATT	p.V378I	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	378	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATATGCTAATGTTGCTTGGCA	0.418		NaN											0	0	0	0.01441	0	48	170				
IRS2	8660	broad.mit.edu	37	13	110435067	110435067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:110435067C>A	uc001vqv.2	-	1	3848	c.3334G>T	c.(3334-3336)GAG>TAG	p.E1112*		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1112					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GACACCTGCTCCATGAGGCTC	0.751		NaN											1	0	0.00198382	0.001984	0.00200141	5	26				
LRFN5	145581	broad.mit.edu	37	14	42368155	42368155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:42368155G>A	uc001wvm.2	+	5	3332	c.2134G>A	c.(2134-2136)GAA>AAA	p.E712K	LRFN5_uc010ana.2_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	712	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATTGTCCAGGAAACACAGGT	0.279		NaN								HNSCC(30;0.082)			0	0	0	0.01441	0	46	36				
PTGDR	5729	broad.mit.edu	37	14	52735275	52735275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:52735275C>T	uc001wzq.2	+	1	845	c.743C>T	c.(742-744)GCG>GTG	p.A248V		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	248	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGCCGCGCGCGGACGGGAGG	0.677		NaN											0	0	0	0.01441	0	75	180				
FERMT2	10979	broad.mit.edu	37	14	53342019	53342019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342019G>C	uc001xad.2	-	8	1075	c.1020C>G	c.(1018-1020)GAC>GAG	p.D340E	FERMT2_uc001xac.2_Missense_Mutation_p.D340E|FERMT2_uc001xae.2_Missense_Mutation_p.D340E|FERMT2_uc001xaf.2_Missense_Mutation_p.D340E	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	340	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CAACTTCTTTGTCACTGTTGT	0.333		NaN											0	0	0	0.01441	0	50	57				
FERMT2	10979	broad.mit.edu	37	14	53342072	53342072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342072G>C	uc001xad.2	-	8	1022	c.967C>G	c.(967-969)CAT>GAT	p.H323D	FERMT2_uc001xac.2_Missense_Mutation_p.H323D|FERMT2_uc001xae.2_Missense_Mutation_p.H323D|FERMT2_uc001xaf.2_Missense_Mutation_p.H323D	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	323	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TTATTGATATGATACTGAAAC	0.308		NaN											0	0	0	0.009535	0	32	52				
WDHD1	11169	broad.mit.edu	37	14	55457948	55457948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:55457948G>C	uc001xbm.1	-	12	1402	c.1324C>G	c.(1324-1326)CTC>GTC	p.L442V	WDHD1_uc010aom.1_Missense_Mutation_p.I20M|WDHD1_uc001xbn.1_Missense_Mutation_p.L319V	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	442						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CTGTGAGTGAGATGCAACGGT	0.388		NaN											0	0	0	0.014323	0	20	24				
COQ6	51004	broad.mit.edu	37	14	74428598	74428598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:74428598C>G	uc001xph.2	+	11	1449	c.1369C>G	c.(1369-1371)CCA>GCA	p.P457A	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.P382A|COQ6_uc001xpf.2_Missense_Mutation_p.P382A|COQ6_uc010tuk.1_Missense_Mutation_p.P432A|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	457					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGCAGTGTCTCCACTCAAAGT	0.373		NaN											0	0	0	0.01441	0	108	107				
LTBP2	4053	broad.mit.edu	37	14	75017934	75017934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:75017934C>T	uc001xqa.2	-	7	1906	c.1519G>A	c.(1519-1521)GTG>ATG	p.V507M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	507					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGGTCTCCACGCTGTTCTCC	0.682		NaN											0	0	0	0.013537	0	13	16				
C14orf4	64207	broad.mit.edu	37	14	77492772	77492772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:77492772G>A	uc001xsy.2	-	1	2263	c.1364C>T	c.(1363-1365)TCG>TTG	p.S455L		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	455						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTTGAAACCCGAGGATAGGCC	0.612		NaN											0	0	0	0.01441	0	57	61				
PTPN21	11099	broad.mit.edu	37	14	88938710	88938710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:88938710G>A	uc001xwv.3	-	15	3080	c.2749C>T	c.(2749-2751)CGA>TGA	p.R917*	PTPN21_uc010twc.1_Nonsense_Mutation_p.R713*	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	917	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TCAGGGAGTCGTGCTGTTGAG	0.393		NaN											0	0	0	0.001855	0	12	39				
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:93760396A>G	uc001ybo.2	-	3	1296	c.970T>C	c.(970-972)TAT>CAT	p.Y324H	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	324	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418		NaN											0	0	0	0.004007	0	17	44				
OR4N4	283694	broad.mit.edu	37	15	22383192	22383192	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:22383192C>T	uc001yuc.1	+	7	1701	c.720C>T	c.(718-720)TGC>TGT	p.C240C	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.C240C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACGTGCACCACTCGTG	0.493		NaN											0	0	0	0.00632	0	26	189				
IVD	3712	broad.mit.edu	37	15	40703469	40703469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:40703469G>A	uc001zls.3	+	5	810	c.476G>A	c.(475-477)GGT>GAT	p.G159D	IVD_uc001zlq.2_Missense_Mutation_p.G129D	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	156					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTGATCAGTGGTGAGTACATC	0.517		NaN											0	0	0	0.01441	0	278	328				
TTBK2	146057	broad.mit.edu	37	15	43044889	43044889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:43044889G>A	uc001zqo.2	-	14	2994	c.2555C>T	c.(2554-2556)TCA>TTA	p.S852L	TTBK2_uc010bcy.2_Missense_Mutation_p.S783L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	852					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAAATTTCTGAAGTTCCAAC	0.373		NaN											0	0	0	0.01441	0	56	64				
MYO5A	4644	broad.mit.edu	37	15	52672022	52672022	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:52672022G>C	uc002aby.2	-	17	2340	c.2096C>G	c.(2095-2097)TCA>TGA	p.S699*	MYO5A_uc002abx.3_Nonsense_Mutation_p.S699*|MYO5A_uc010uge.1_Nonsense_Mutation_p.S568*	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	699	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTCACCGTGAGGGGAAACC	0.448		NaN											0	0	0	0.005443	0	25	122				
LIPC	3990	broad.mit.edu	37	15	58834842	58834842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:58834842G>A	uc010bga.1	+	6	1174	c.566G>A	c.(565-567)AGA>AAA	p.R189K	LIPC_uc010bfz.1_Missense_Mutation_p.R189K|LIPC_uc002afa.1_Missense_Mutation_p.R189K|LIPC_uc010bgb.1_Missense_Mutation_p.R87K|LIPC_uc010ugy.1_Missense_Mutation_p.R128K	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	189	Heparin-binding (Potential).				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGATTGGGAGAATCACAGGT	0.498		NaN											0	0	0	0.004289	0	37	111				
ADAMTSL3	57188	broad.mit.edu	37	15	84611709	84611709	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:84611709C>T	uc002bjz.3	+	19	2589	c.2365C>T	c.(2365-2367)CTG>TTG	p.L789L	ADAMTSL3_uc010bmt.1_Silent_p.L789L|ADAMTSL3_uc010bmu.1_Silent_p.L789L	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	789	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGTCGGCAGCTGCTAACGGA	0.547		NaN											0	0	0	0.004482	0	9	43				
AGBL1	123624	broad.mit.edu	37	15	86940646	86940646	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:86940646C>A	uc002blz.1	+	17	2366	c.2286C>A	c.(2284-2286)AGC>AGA	p.S762R		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	762					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CAGGAGAGAGCAATGCCAGTT	0.453		NaN											1	0	4.93089e-13	0.00245	5.18142e-13	14	39				
NTRK3	4916	broad.mit.edu	37	15	88678348	88678348	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:88678348G>A	uc002bme.1	-	9	1350	c.1188C>T	c.(1186-1188)CTC>CTT	p.L396L	NTRK3_uc002bmh.2_Silent_p.L396L|NTRK3_uc002bmf.1_Silent_p.L396L|NTRK3_uc010upl.1_Silent_p.L298L|NTRK3_uc010bnh.1_Silent_p.L396L|NTRK3_uc002bmg.2_Silent_p.L396L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	396	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGGCTCCTTGAGGAAGTGGC	0.527		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.010818	0	30	101				
MEF2A	4205	broad.mit.edu	37	15	100230446	100230446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:100230446G>A	uc010urw.1	+	7	1036	c.677G>A	c.(676-678)GGG>GAG	p.G226E	MEF2A_uc010urv.1_Missense_Mutation_p.G156E|MEF2A_uc010bos.2_Missense_Mutation_p.G224E|MEF2A_uc002bvf.2_Missense_Mutation_p.G226E|MEF2A_uc002bve.2_Missense_Mutation_p.G224E|MEF2A_uc002bvg.2_Missense_Mutation_p.G224E|MEF2A_uc002bvi.2_Missense_Mutation_p.G224E|MEF2A_uc010bot.2_Missense_Mutation_p.G156E	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	226					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTCCCCCCAGGGAATGGATTT	0.383		NaN											0	0	0	0.009096	0	4	22				
HCFC1R1	54985	broad.mit.edu	37	16	3073334	3073334	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3073334C>G	uc002csx.1	-	4	314	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	HCFC1R1_uc002csy.1_Missense_Mutation_p.E61Q|HCFC1R1_uc002csz.1_Missense_Mutation_p.E42Q|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	61						cytoplasm|nucleus					0						ATGTTCTCCTCAGACAGAAAC	0.617		NaN											0	0	0	0.01441	0	94	267				
ZNF75A	7627	broad.mit.edu	37	16	3367835	3367835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3367835C>T	uc002cut.3	+	6	1383	c.857C>T	c.(856-858)TCA>TTA	p.S286L	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	286	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						AGCAGGCGGTCAAGCCTTCTT	0.453		NaN											0	0	0	0.01441	0	59	42				
ZNF500	26048	broad.mit.edu	37	16	4802759	4802759	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:4802759T>C	uc002cxp.1	-	6	1308	c.1061A>G	c.(1060-1062)AAG>AGG	p.K354R	ZNF500_uc002cxo.1_Missense_Mutation_p.K146R|ZNF500_uc010uxt.1_Missense_Mutation_p.K354R	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	354	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GACTAGGCACTTGTAAGGCCG	0.622		NaN											0	0	0	0.01441	0	111	117				
ITPRIPL2	162073	broad.mit.edu	37	16	19125972	19125972	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:19125972C>A	uc002dfu.3	+	1	719	c.189C>A	c.(187-189)CTC>CTA	p.L63L	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	63	Helical; (Potential).					integral to membrane				skin(2)	2						GCTATGTCCTCCTGCGCTGTC	0.721		NaN											1	0	0.00448238	0.004482	0.00451213	8	55				
RABEP2	79874	broad.mit.edu	37	16	28925598	28925598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:28925598G>A	uc002drq.2	-	5	901	c.853C>T	c.(853-855)CAG>TAG	p.Q285*	uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q214*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q285*|RABEP2_uc002drr.2_Nonsense_Mutation_p.Q285*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	285					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						GGGACGAGCTGGTAGCCAGGA	0.652		NaN											0	0	0	0.004656	0	26	82				
HIRIP3	8479	broad.mit.edu	37	16	30004529	30004529	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:30004529C>T	uc002dve.2	-	7	2131	c.1670G>A	c.(1669-1671)TGA>TAA	p.*557*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|HIRIP3_uc002dvf.2_3'UTR	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	557					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TGGCAGAGCTCAGTTACTCTC	0.567		NaN											0	0	0	0.01441	0	69	58				
MT1H	4496	broad.mit.edu	37	16	56703818	56703818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:56703818G>A	uc002ejw.2	+	1	93	c.22G>A	c.(22-24)GAG>AAG	p.E8K	MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	NM_005951	NP_005942	P80294	MT1H_HUMAN	metallothionein 1H	8	Beta.						metal ion binding|protein binding				0						CTGCTCCTGCGAGGCTGGTAA	0.567		NaN											0	0	0	0.01441	0	69	277				
NDRG4	65009	broad.mit.edu	37	16	58538305	58538305	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58538305C>G	uc002eno.2	+	4	397	c.291C>G	c.(289-291)CCC>CCG	p.P97P	NDRG4_uc002enk.2_Silent_p.P129P|NDRG4_uc002enm.2_Silent_p.P149P|NDRG4_uc010vif.1_Silent_p.P129P|NDRG4_uc010cdk.2_Silent_p.P115P|NDRG4_uc010vig.1_Silent_p.P127P|NDRG4_uc010vih.1_Silent_p.P42P|NDRG4_uc010vii.1_Silent_p.P115P|NDRG4_uc002enp.2_Silent_p.P97P|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	97					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						CCATGCTCCCCAGCGTGGTGC	0.677		NaN											0	0	0	0.01441	0	216	214				
FAM65A	79567	broad.mit.edu	37	16	67574554	67574554	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:67574554G>C	uc010vjp.1	+	10	904	c.808G>C	c.(808-810)GAC>CAC	p.D270H	FAM65A_uc010cei.1_Missense_Mutation_p.D92H|FAM65A_uc002eth.2_Missense_Mutation_p.D250H|FAM65A_uc010cej.2_Missense_Mutation_p.D253H|FAM65A_uc002eti.1_Missense_Mutation_p.D213H|FAM65A_uc010vjq.1_Missense_Mutation_p.D264H|FAM65A_uc002etj.1_Missense_Mutation_p.D249H|FAM65A_uc002etk.2_Missense_Mutation_p.D249H	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	254						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCAGGTGTGGGACAGTGAAGA	0.547		NaN											0	0	0	0.01441	0	193	174				
ESRP2	80004	broad.mit.edu	37	16	68266170	68266170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68266170C>G	uc010cfa.1	-	9	1194	c.1006G>C	c.(1006-1008)GAG>CAG	p.E336Q	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.E326Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	336	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						TTTACAAACTCCTCCCCTGTC	0.582		NaN											0	0	0	0.01441	0	56	70				
SLC7A6OS	84138	broad.mit.edu	37	16	68335260	68335260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68335260C>G	uc002evw.1	-	5	867	c.848G>C	c.(847-849)AGA>ACA	p.R283T	SLC7A6_uc002evt.1_3'UTR|SLC7A6_uc002evu.1_3'UTR|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	283					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CATCCGCTGTCTGCTGCTGCC	0.522		NaN											0	0	0	0.01441	0	73	79				
PKD1L2	114780	broad.mit.edu	37	16	81241228	81241228	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:81241228A>T	uc002fgh.1	-	5	773	c.773T>A	c.(772-774)ATG>AAG	p.M258K	PKD1L2_uc002fgj.2_Missense_Mutation_p.M258K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	258	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ACTGGACACCATCAGCTGCAG	0.443		NaN											0	0	0	0.01441	0	65	85				
TSR1	55720	broad.mit.edu	37	17	2237950	2237950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:2237950T>C	uc002fuj.2	-	5	1754	c.797A>G	c.(796-798)AAT>AGT	p.N266S	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	266					ribosome assembly	nucleolus	protein binding			ovary(1)	1						CACCAAGTTATTCTCTTCACT	0.458		NaN											0	0	0	0.01441	0	104	311				
ZNF624	57547	broad.mit.edu	37	17	16526354	16526354	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526354C>T	uc010cpi.1	-	6	1929	c.1846G>A	c.(1846-1848)GAC>AAC	p.D616N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	616	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCTCGCAGTCAGTACATTTA	0.383		NaN											0	0	0	0.01441	0	161	197				
ZNF624	57547	broad.mit.edu	37	17	16526391	16526391	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526391C>G	uc010cpi.1	-	6	1892	c.1809G>C	c.(1807-1809)CAG>CAC	p.Q603H		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	603	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGAATTCTCTGATGTACAG	0.378		NaN											0	0	0	0.01441	0	149	164				
ZNF624	57547	broad.mit.edu	37	17	16526600	16526600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526600C>T	uc010cpi.1	-	6	1683	c.1600G>A	c.(1600-1602)GGG>AGG	p.G534R		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATGCTTTCCCACATTCATTA	0.383		NaN											0	0	0	0.01441	0	92	87				
ZNF624	57547	broad.mit.edu	37	17	16526725	16526725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526725C>T	uc010cpi.1	-	6	1558	c.1475G>A	c.(1474-1476)AGA>AAA	p.R492K		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	492	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTGTGAGTTCTTATATGTAC	0.383		NaN											0	0	0	0.01441	0	81	92				
ZNF624	57547	broad.mit.edu	37	17	16526782	16526782	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526782C>G	uc010cpi.1	-	6	1501	c.1418G>C	c.(1417-1419)AGA>ACA	p.R473T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	473	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCGTTACATCTAAAAGGTTT	0.373		NaN											0	0	0	0.01441	0	68	69				
ZNF624	57547	broad.mit.edu	37	17	16526838	16526838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526838C>G	uc010cpi.1	-	6	1445	c.1362G>C	c.(1360-1362)AAG>AAC	p.K454N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	454	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGTGGTATTCTTAAAAGACT	0.383		NaN											0	0	0	0.01441	0	56	67				
ZNF624	57547	broad.mit.edu	37	17	16526858	16526858	+	Missense_Mutation	SNP	C	C	T	rs138787716		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526858C>T	uc010cpi.1	-	6	1425	c.1342G>A	c.(1342-1344)GAG>AAG	p.E448K		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	448	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACACTCGTTGCACTGA	0.388		NaN											0	0	0	0.01441	0	55	71				
ZNF624	57547	broad.mit.edu	37	17	16526922	16526922	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526922C>T	uc010cpi.1	-	6	1361	c.1278G>A	c.(1276-1278)AGG>AGA	p.R426R		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	426	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGACTTGTTCCTAAAGGCTT	0.388		NaN											0	0	0	0.01441	0	61	66				
ZNF624	57547	broad.mit.edu	37	17	16526945	16526945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526945C>G	uc010cpi.1	-	6	1338	c.1255G>C	c.(1255-1257)GAT>CAT	p.D419H		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	419	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCACAATCATCACATTTGTAG	0.403		NaN											0	0	0	0.01441	0	59	69				
ZNF624	57547	broad.mit.edu	37	17	16526963	16526963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526963C>T	uc010cpi.1	-	6	1320	c.1237G>A	c.(1237-1239)GAG>AAG	p.E413K		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGGTTTCTCACCATTGTGA	0.388		NaN											0	0	0	0.01441	0	58	71				
ZNF624	57547	broad.mit.edu	37	17	16527313	16527313	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527313C>G	uc010cpi.1	-	6	970	c.887G>C	c.(886-888)AGA>ACA	p.R296T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	296	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAGTTCTTTGATGTTG	0.348		NaN											0	0	0	0.01441	0	90	65				
ZNF624	57547	broad.mit.edu	37	17	16527465	16527465	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527465C>G	uc010cpi.1	-	6	818	c.735G>C	c.(733-735)AAG>AAC	p.K245N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAAATTATCTTCCCCAAAT	0.383		NaN											0	0	0	0.01441	0	100	101				
ZNF624	57547	broad.mit.edu	37	17	16527501	16527501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527501C>G	uc010cpi.1	-	6	782	c.699G>C	c.(697-699)GAG>GAC	p.E233D		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATTTAAATTCTCTGTGAAAT	0.393		NaN											0	0	0	0.01441	0	82	91				
ZNF624	57547	broad.mit.edu	37	17	16527670	16527670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527670C>G	uc010cpi.1	-	6	613	c.530G>C	c.(529-531)AGA>ACA	p.R177T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATTTTGTAATCTCAATATCCT	0.358		NaN											0	0	0	0.01441	0	83	72				
ZNF624	57547	broad.mit.edu	37	17	16527693	16527693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527693C>T	uc010cpi.1	-	6	590	c.507G>A	c.(505-507)TGG>TGA	p.W169*		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCCATTTCCATAACCCTT	0.383		NaN											0	0	0	0.01441	0	90	85				
ZNF624	57547	broad.mit.edu	37	17	16527709	16527709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527709C>T	uc010cpi.1	-	6	574	c.491G>A	c.(490-492)AGA>AAA	p.R164K		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCTTCCATTCTGGAATCCCA	0.393		NaN											0	0	0	0.01441	0	85	97				
ZNF624	57547	broad.mit.edu	37	17	16527767	16527767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527767C>T	uc010cpi.1	-	6	516	c.433G>A	c.(433-435)GAT>AAT	p.D145N		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATAAATCTTCAGAAATA	0.408		NaN											0	0	0	0.01441	0	85	88				
MYO15A	51168	broad.mit.edu	37	17	18022918	18022918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:18022918C>A	uc010vxh.1	+	2	1142	c.804C>A	c.(802-804)AGC>AGA	p.S268R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	268	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCCCCTACAGCCCGGCCTGGC	0.642		NaN											1	0	1.59438e-142	0.01441	1.74806e-142	272	39				
ERBB2	2064	broad.mit.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	A	rs121913468		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:37880261G>A	uc002hso.2	+	19	2543	c.2305G>A	c.(2305-2307)GAC>AAC	p.D769N	ERBB2_uc002hsm.2_Missense_Mutation_p.D739N|ERBB2_uc010cwa.2_Missense_Mutation_p.D754N|ERBB2_uc002hsp.2_Missense_Mutation_p.D572N|ERBB2_uc010cwb.2_Missense_Mutation_p.D769N|ERBB2_uc010wek.1_Missense_Mutation_p.D493N	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	769	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D769H(3)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.01441	0	256	18		Valid		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:39261731G>A	uc010wfp.1	+	1	91	c.91G>A	c.(91-93)GAG>AAG	p.E31K		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament					0						CAGCTGCTGTGAGACCACCTG	0.637		NaN											0	0	0	0.01441	0	52	19				
KAT2A	2648	broad.mit.edu	37	17	40265828	40265828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:40265828G>A	uc002hyx.2	-	18	2413	c.2353C>T	c.(2353-2355)CGC>TGC	p.R785C	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	785	Bromo.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						ACGTAGTAGCGGCTTCGCAGC	0.632		NaN											0	0	0	0.008871	0	20	56				
TLK2	11011	broad.mit.edu	37	17	60655841	60655841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:60655841G>A	uc010ddp.2	+	15	1526	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	TLK2_uc002izx.3_Missense_Mutation_p.E246K|TLK2_uc002izz.3_Missense_Mutation_p.E398K|TLK2_uc002jaa.3_Missense_Mutation_p.E366K|TLK2_uc010wpd.1_Missense_Mutation_p.E366K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	420	Potential.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GCTTTAGGAGGAAGCAGAGAT	0.368		NaN											0	0	0	0.008291	0	11	78				
CCDC46	201134	broad.mit.edu	37	17	64049896	64049896	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:64049896C>T	uc002jfl.2	-	12	1395	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	CCDC46_uc010deo.2_Silent_p.L134L|CCDC46_uc002jfm.2_Silent_p.L392L|CCDC46_uc010dep.2_Silent_p.L350L	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	392	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CCATTTTATTCAGACGCACAT	0.388		NaN											0	0	0	0.009718	0	41	206				
NAT9	26151	broad.mit.edu	37	17	72767986	72767986	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72767986G>A	uc002jlq.2	-	7	575	c.501C>T	c.(499-501)AGC>AGT	p.S167S	NAT9_uc002jlr.2_Silent_p.S166S	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	167	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0						GAAAAACACTGCTCGTAGCCA	0.557		NaN											0	0	0	0.01441	0	89	137				
FADS6	283985	broad.mit.edu	37	17	72888659	72888659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72888659G>A	uc002jmd.1	-	2	360	c.348C>T	c.(346-348)TTC>TTT	p.F116F		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	122	Helical; (Potential).				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCCACAAAGAAAAGCAGCC	0.597		NaN											0	0	0	0.00874	0	39	52				
TNRC6C	57690	broad.mit.edu	37	17	76047083	76047083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:76047083C>T	uc002jud.2	+	4	2540	c.1940C>T	c.(1939-1941)ACA>ATA	p.T647I	TNRC6C_uc002juf.2_Missense_Mutation_p.T647I|TNRC6C_uc002jue.2_Missense_Mutation_p.T647I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	647	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCACAAATACAAAGGCCAAT	0.502		NaN											0	0	0	0.00632	0	29	36				
TBC1D16	125058	broad.mit.edu	37	17	77922741	77922741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:77922741C>T	uc002jxj.2	-	8	1587	c.1471G>A	c.(1471-1473)GAC>AAC	p.D491N	TBC1D16_uc002jxh.2_Missense_Mutation_p.D129N|TBC1D16_uc002jxi.2_Missense_Mutation_p.D116N|TBC1D16_uc002jxk.1_Missense_Mutation_p.D129N	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	491	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CGGACCACGTCTTTGTCCACA	0.602		NaN											0	0	0	0.01441	0	208	331				
CCDC40	55036	broad.mit.edu	37	17	78058702	78058702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78058702C>G	uc010dht.2	+	13	2177	c.2150C>G	c.(2149-2151)TCC>TGC	p.S717C	CCDC40_uc002jxm.3_Missense_Mutation_p.S500C|CCDC40_uc002jxn.3_Missense_Mutation_p.S113C	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	717	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCGAGATCTCCCGGCGCACG	0.602		NaN											0	0	0	0.01441	0	63	106				
CCDC40	55036	broad.mit.edu	37	17	78059829	78059829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78059829G>C	uc010dht.2	+	14	2290	c.2263G>C	c.(2263-2265)GAA>CAA	p.E755Q	CCDC40_uc002jxm.3_Missense_Mutation_p.E538Q|CCDC40_uc002jxn.3_Missense_Mutation_p.E151Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	755	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGGAGCTTGAAATCAAAAG	0.448		NaN											0	0	0	0.01441	0	123	197				
EMILIN2	84034	broad.mit.edu	37	18	2892205	2892205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:2892205G>A	uc002kln.2	+	4	2239	c.2080G>A	c.(2080-2082)GGG>AGG	p.G694R		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	694					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		ATGCACGCAGGGGGTCCAGAG	0.562		NaN											0	0	0	0.01441	0	112	141				
ROCK1	6093	broad.mit.edu	37	18	18622100	18622100	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:18622100G>C	uc002kte.2	-	8	1858	c.917C>G	c.(916-918)TCA>TGA	p.S306*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	306	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TGCTTCTTTTGATATGTCATT	0.333		NaN											0	0	0	0.016522	0	22	59				
OSBPL1A	114876	broad.mit.edu	37	18	21746618	21746618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:21746618C>G	uc002kve.2	-	26	2758	c.2584G>C	c.(2584-2586)GAC>CAC	p.D862H	OSBPL1A_uc002kvd.2_Missense_Mutation_p.D349H|OSBPL1A_uc010xbc.1_Missense_Mutation_p.D480H	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	862					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCTCCATGTCTTTGTCTACT	0.398		NaN											0	0	0	0.01441	0	74	62				
ST8SIA3	51046	broad.mit.edu	37	18	55024415	55024415	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:55024415G>A	uc002lgn.2	+	3	931	c.574G>A	c.(574-576)GCC>ACC	p.A192T		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	192	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGCAATTTCGCCCCTACGGA	0.403		NaN											0	0	0	0.01441	0	71	56				
C18orf22	79863	broad.mit.edu	37	18	77794621	77794621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:77794621G>C	uc002lns.2	+	1	264	c.126G>C	c.(124-126)AAG>AAC	p.K42N	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.K42N|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	42					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		TCTCCTGCAAGAACTGGCTCA	0.657		NaN											0	0	0	0.013537	0	13	198				
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:2222099C>T	uc002lvb.3	+	24	2967	c.2931C>T	c.(2929-2931)ACC>ACT	p.T977T	DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	977						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTTGCCACCGTGGGGTCCC	0.701		NaN											0	0	0	0.01441	0	97	113				
PLIN3	10226	broad.mit.edu	37	19	4859618	4859618	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:4859618T>C	uc002mbj.2	-	4	509	c.332A>G	c.(331-333)CAG>CGG	p.Q111R	PLIN3_uc002mbk.2_Missense_Mutation_p.Q111R|PLIN3_uc002mbl.3_Missense_Mutation_p.Q111R	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	111				ILQ -> MLR (in Ref. 2; AAD11622).	vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	CGTGGGCTGCTGCAGGATGGG	0.572		NaN											0	0	0	0.01441	0	76	74				
C3	718	broad.mit.edu	37	19	6686860	6686860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:6686860C>T	uc002mfm.2	-	28	3605	c.3543G>A	c.(3541-3543)ATG>ATA	p.M1181I	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1181					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTGTAGGTTCATGTAGTTGG	0.517		NaN											0	0	0	0.01441	0	114	107				
DNASE2	1777	broad.mit.edu	37	19	12991823	12991823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:12991823C>T	uc002mvn.1	-	2	376	c.230G>A	c.(229-231)CGA>CAA	p.R77Q	DNASE2_uc010xmr.1_Missense_Mutation_p.R77Q	NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor	77					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0						CTGCAGGCTTCGGCCCACGGC	0.677		NaN						Direct_reversal_of_damage					0	0	0	0.01441	0	72	73				
CPAMD8	27151	broad.mit.edu	37	19	17039045	17039045	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17039045C>G	uc002nfb.2	-	25	3318	c.3286_splice	c.e25-1	p.V1096_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CATGGCCAACCTGGAAAAAGA	0.597		NaN											0	0	0	0.00245	0	15	61				
HAUS8	93323	broad.mit.edu	37	19	17166705	17166705	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17166705G>A	uc002nfe.2	-	9	864	c.753C>T	c.(751-753)TCC>TCT	p.S251S	HAUS8_uc002nff.2_Silent_p.S250S|HAUS8_uc002nfg.1_Silent_p.S190S|HAUS8_uc002nfh.1_Silent_p.S251S	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	251					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						CCAGGTGGATGGACCTCACGG	0.642		NaN											0	0	0	0.008361	0	28	88				
B3GNT3	10331	broad.mit.edu	37	19	17922410	17922410	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17922410T>G	uc002nhk.1	+	3	683	c.598T>G	c.(598-600)TGC>GGC	p.C200G	B3GNT3_uc002nhl.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebd.1_Missense_Mutation_p.C200G|B3GNT3_uc010ebe.1_Missense_Mutation_p.C200G	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	200	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						GGAGACAAGGTGCGCCAACGC	0.572		NaN											0	0	0	0.00632	0	15	122				
JAK3	3718	broad.mit.edu	37	19	17953857	17953857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17953857C>T	uc002nhn.3	-	5	645	c.545G>A	c.(544-546)GGA>GAA	p.G182E	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.G182E|JAK3_uc010xpx.1_Missense_Mutation_p.G182E|JAK3_uc010xpy.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	182	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CAGCAGCTCTCCCGGCCGCTG	0.687		2	Mis		acute megakaryocytic leukemia|								0	0	0	0.01441	0	49	79				
ISYNA1	51477	broad.mit.edu	37	19	18546114	18546114	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:18546114C>A	uc002njd.1	-	10	1484	c.1434G>T	c.(1432-1434)GCG>GCT	p.A478A	ISYNA1_uc002nja.1_Silent_p.A350A|ISYNA1_uc002njb.1_Silent_p.A396A|ISYNA1_uc002njc.1_Silent_p.A328A|ISYNA1_uc010xqh.1_Silent_p.A276A|ISYNA1_uc002nje.1_Silent_p.A424A|ISYNA1_uc002njf.1_Silent_p.A328A	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	478					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GGCGGAAAAGCGCATTGACCA	0.662		NaN											1	0	7.01153e-11	0.007291	7.31708e-11	27	387				
ZNF90	7643	broad.mit.edu	37	19	20229706	20229706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:20229706G>A	uc002nor.2	+	4	1482	c.1343G>A	c.(1342-1344)AGT>AAT	p.S448N	ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	zinc finger protein 90	448						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ATAATTCATAGTGGAGAGAAA	0.393		NaN											0	0	0	0.014758	0	5	34				
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22940978G>A	uc010xrh.1	-	5	1460	c.1460C>T	c.(1459-1461)TCA>TTA	p.S487L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358		NaN											0	0	0	0.00245	0	15	74				
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22941120G>A	uc010xrh.1	-	5	1318	c.1318C>T	c.(1318-1320)CAT>TAT	p.H440Y		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.343		NaN											0	0	0	0.007835	0	38	44				
CATSPERG	57828	broad.mit.edu	37	19	38860868	38860868	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38860868C>T	uc002oih.3	+	28	3270	c.3183C>T	c.(3181-3183)CTC>CTT	p.L1061L	CATSPERG_uc002oig.3_Silent_p.L1021L|CATSPERG_uc002oif.3_Silent_p.L701L|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1061	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						GGCTGCCACTCAGTCCCAAGC	0.602		NaN											0	0	0	0.013726	0	33	89				
PSG1	5669	broad.mit.edu	37	19	43376148	43376148	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:43376148C>T	uc002ovb.2	-	3	618	c.480G>A	c.(478-480)GAG>GAA	p.E160E	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.E160E|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.E160E|PSG1_uc010eio.1_Silent_p.E160E|PSG1_uc002oux.1_Silent_p.E89E|PSG1_uc002ouy.1_Silent_p.E160E|PSG1_uc002ouz.1_Silent_p.E160E|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Silent_p.E160E	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	160	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CCTCCATGGTCTCCCTGGGAT	0.537		NaN											0	0	0	0.01441	0	61	270				
MARK4	57787	broad.mit.edu	37	19	45774817	45774817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:45774817G>C	uc002pbb.1	+	8	642	c.637G>C	c.(637-639)GAC>CAC	p.D213H	MARK4_uc002paz.1_Missense_Mutation_p.W23C|MARK4_uc002pba.1_Missense_Mutation_p.D213H|MARK4_uc002pbc.1_Missense_Mutation_p.D79H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	213	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCGAAGCTGGACACGTTCTG	0.597		NaN											0	0	0	0.01441	0	68	245				
SYMPK	8189	broad.mit.edu	37	19	46338423	46338423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46338423G>C	uc002pdn.2	-	11	1551	c.1306C>G	c.(1306-1308)CCC>GCC	p.P436A	SYMPK_uc002pdo.1_Missense_Mutation_p.P436A|SYMPK_uc002pdp.1_Missense_Mutation_p.P436A|SYMPK_uc002pdq.1_Missense_Mutation_p.P436A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	436					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GACTCCACGGGGGTGTAGATG	0.602		NaN											0	0	0	0.01441	0	99	62				
MYPOP	339344	broad.mit.edu	37	19	46393930	46393930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46393930C>G	uc002pdt.2	-	3	1238	c.1151G>C	c.(1150-1152)AGA>ACA	p.R384T		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	384	Nuclear localization signal (By similarity).					nucleus	DNA binding				0						GAAACCTTTTCTCCGCTTGTG	0.642		NaN											0	0	0	0.011902	0	43	124				
PGLYRP1	8993	broad.mit.edu	37	19	46522875	46522875	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46522875G>A	uc002pdx.1	-	2	362	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	106					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACGGCCCTCGTATACGAGCC	0.587		NaN											0	0	0	0.00632	0	24	138				
PRKD2	25865	broad.mit.edu	37	19	47178369	47178369	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:47178369T>C	uc002pfh.2	-	18	2687	c.2345A>G	c.(2344-2346)GAC>GGC	p.D782G	PRKD2_uc002pfd.2_Missense_Mutation_p.D156G|PRKD2_uc010eks.2_Missense_Mutation_p.D185G|PRKD2_uc010ekt.2_Missense_Mutation_p.D49G|PRKD2_uc002pfe.2_Missense_Mutation_p.D312G|PRKD2_uc002pff.2_Missense_Mutation_p.D302G|PRKD2_uc002pfg.2_Missense_Mutation_p.D625G|PRKD2_uc002pfi.2_Missense_Mutation_p.D782G|PRKD2_uc002pfj.2_Missense_Mutation_p.D782G|PRKD2_uc010xye.1_Missense_Mutation_p.D792G|PRKD2_uc002pfk.2_Missense_Mutation_p.D625G	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	782	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTTGATGAGGTCAATGGCTGC	0.567		NaN											0	0	0	0.010818	0	31	20				
NLRP9	338321	broad.mit.edu	37	19	56244156	56244156	+	Silent	SNP	C	C	T	rs146611098		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244156C>T	uc002qly.2	-	2	1069	c.1041G>A	c.(1039-1041)GTG>GTA	p.V347V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT.					cytoplasm	ATP binding	p.V347V(1)		skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCTCTGTTTCACACAAGTAC	0.418		NaN											0	0	0	0.01441	0	209	35				
NLRP9	338321	broad.mit.edu	37	19	56244288	56244288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244288C>G	uc002qly.2	-	2	937	c.909G>C	c.(907-909)AAG>AAC	p.K303N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	303	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATACGACTTCTTTTCAGATT	0.388		NaN											0	0	0	0.01441	0	112	25				
ZNF274	10782	broad.mit.edu	37	19	58724434	58724434	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:58724434C>A	uc002qrq.1	+	10	2346	c.1887C>A	c.(1885-1887)ACC>ACA	p.T629T	ZNF274_uc002qrr.1_Silent_p.T597T|ZNF274_uc002qrs.1_Silent_p.T524T|ZNF274_uc010eum.1_Silent_p.T388T	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	629	C2H2-type 5.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGCCTTCACCCAGAGCTCAC	0.517		NaN											1	0	2.40228e-13	0.013114	2.53018e-13	46	409				
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:1926269G>T	uc002qxe.2	-	10	2099	c.1272C>A	c.(1270-1272)TTC>TTA	p.F424L	MYT1L_uc002qxd.2_Missense_Mutation_p.F424L|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	424					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTCATGTCGAACACCTCTT	0.567		NaN											1	0	1.85244e-09	0.00333	1.92434e-09	24	121				
APOB	338	broad.mit.edu	37	2	21230048	21230048	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:21230048T>C	uc002red.2	-	26	9820	c.9692A>G	c.(9691-9693)GAT>GGT	p.D3231G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3231	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGTACTTATCAAACTTAAT	0.368		NaN											0	0	0	0.004482	0	9	39				
LTBP1	4052	broad.mit.edu	37	2	33568000	33568000	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:33568000C>G	uc002ros.2	+	25	3829	c.3829C>G	c.(3829-3831)CAA>GAA	p.Q1277E	LTBP1_uc002rot.2_Missense_Mutation_p.Q951E|LTBP1_uc002rou.2_Missense_Mutation_p.Q950E|LTBP1_uc002rov.2_Missense_Mutation_p.Q897E|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1276	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGGGCTTTCAAGCCCCACA	0.458		NaN											0	0	0	0.00499	0	18	59				
MTIF2	4528	broad.mit.edu	37	2	55476578	55476578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55476578C>T	uc002ryn.2	-	10	1671	c.934G>A	c.(934-936)GAA>AAA	p.E312K	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Missense_Mutation_p.E312K	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	312	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						CCATAATCTTCACATACCACA	0.433		NaN											0	0	0	0.008871	0	20	79				
SMEK2	57223	broad.mit.edu	37	2	55825620	55825620	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55825620C>G	uc002rzc.2	-	4	1228	c.853G>C	c.(853-855)GAG>CAG	p.E285Q	SMEK2_uc002rzb.2_Missense_Mutation_p.E285Q|SMEK2_uc002rzd.2_Missense_Mutation_p.E285Q|SMEK2_uc002rza.2_Missense_Mutation_p.E161Q	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	285						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAATTCTCTTCAAAAACA	0.348		NaN											0	0	0	0.01441	0	61	37				
GPAT2	150763	broad.mit.edu	37	2	96688908	96688908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:96688908T>G	uc002svf.2	-	19	2318	c.2095A>C	c.(2095-2097)AAG>CAG	p.K699Q	GPAT2_uc002svd.2_Missense_Mutation_p.K518Q|GPAT2_uc002sve.2_Missense_Mutation_p.K501Q|GPAT2_uc002svg.2_Missense_Mutation_p.K578Q|GPAT2_uc010yuh.1_Missense_Mutation_p.K628Q|GPAT2_uc002svh.2_Intron	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	699					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GCAAAGGCCTTGAGCAGCGGG	0.642		NaN											0	0	0	0.001855	0	12	53				
SLC9A4	389015	broad.mit.edu	37	2	103090411	103090411	+	Missense_Mutation	SNP	G	G	A	rs141209381		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:103090411G>A	uc002tbz.3	+	1	650	c.193G>A	c.(193-195)GAC>AAC	p.D65N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	65	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						ACTGGATTATGACTATGTGCA	0.423		NaN											0	0	0	0.005443	0	28	216				
SULT1C2	6819	broad.mit.edu	37	2	108910720	108910720	+	Missense_Mutation	SNP	G	G	C	rs144954759		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:108910720G>C	uc002tdy.2	+	3	640	c.187G>C	c.(187-189)GAA>CAA	p.E63Q	SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.E63Q|SULT1C2_uc010ywq.1_Missense_Mutation_p.E63Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						GGATATGATTGAACAGAATGG	0.517		NaN											0	0	0	0.01441	0	127	76				
GCC2	9648	broad.mit.edu	37	2	109088444	109088444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:109088444C>G	uc002tec.2	+	6	2813	c.2659C>G	c.(2659-2661)CAA>GAA	p.Q887E	GCC2_uc002ted.2_Missense_Mutation_p.Q786E	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	887	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AGAAGTATCTCAAACATGTAG	0.308		NaN											0	0	0	0.01441	0	52	38				
SCTR	6344	broad.mit.edu	37	2	120204401	120204401	+	Silent	SNP	G	G	A	rs140245245		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:120204401G>A	uc002tma.2	-	11	1300	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	SCTR_uc002tlz.2_Silent_p.F180F	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	358	Helical; Name=6; (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	GGGAGAAGGCGAAGACGATGT	0.572		NaN											0	0	0	0.004878	0	30	139				
CLASP1	23332	broad.mit.edu	37	2	122098465	122098465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:122098465G>A	uc002tnc.2	-	39	4979	c.4589C>T	c.(4588-4590)TCC>TTC	p.S1530F	CLASP1_uc010yyv.1_Missense_Mutation_p.S576F|CLASP1_uc002tmz.2_Missense_Mutation_p.S615F|CLASP1_uc002tna.2_Missense_Mutation_p.S576F|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S1471F|CLASP1_uc010yza.1_Missense_Mutation_p.S1463F|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.S366F	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1530	Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Poly-Ser.|Interaction with CLIP2 (By similarity).				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					ATCGGAGGAGGAGCTGCTGTT	0.488		NaN											0	0	0	0.001855	0	13	25				
GRB14	2888	broad.mit.edu	37	2	165365357	165365357	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:165365357C>T	uc002ucl.2	-	7	1363	c.822G>A	c.(820-822)CCG>CCA	p.P274P	GRB14_uc010zcv.1_Silent_p.P187P|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	274	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						GCAAATGCCGCGGTTCCTTAA	0.328		NaN											0	0	0	0.010504	0	20	99				
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:168103464G>A	uc002udx.2	+	8	5580	c.5562G>A	c.(5560-5562)CAG>CAA	p.Q1854Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1679Q|XIRP2_uc010fpq.2_Silent_p.Q1632Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1679					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGTAAATCAGAAAACAGTGA	0.388		NaN											0	0	0	0.007291	0	28	40				
TTN	7273	broad.mit.edu	37	2	179433265	179433265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179433265C>T	uc010zfg.1	-	275	70114	c.69890G>A	c.(69889-69891)GGT>GAT	p.G23297D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16992D|TTN_uc010zfi.1_Missense_Mutation_p.G16925D|TTN_uc010zfj.1_Missense_Mutation_p.G16800D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24224							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTGTCCACCATCATCCTT	0.413		NaN											0	0	0	0.00499	0	17	56				
TTN	7273	broad.mit.edu	37	2	179445285	179445285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179445285C>T	uc010zfg.1	-	266	59341	c.59117G>A	c.(59116-59118)CGT>CAT	p.R19706H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13401H|TTN_uc010zfi.1_Missense_Mutation_p.R13334H|TTN_uc010zfj.1_Missense_Mutation_p.R13209H|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20633							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCAGCACGTAATATGAG	0.378		NaN											0	0	0	0.001984	0	6	25				
TTN	7273	broad.mit.edu	37	2	179578722	179578722	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179578722T>C	uc010zfg.1	-	89	23155	c.22931A>G	c.(22930-22932)AAG>AGG	p.K7644R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4305R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8571							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K7644R(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATGATCTTAAGGCCGGA	0.443		NaN											0	0	0	0.004482	0	9	26				
ITGA4	3676	broad.mit.edu	37	2	182339776	182339776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:182339776G>A	uc002unu.2	+	3	1172	c.409G>A	c.(409-411)GAA>AAA	p.E137K	ITGA4_uc010zfl.1_Missense_Mutation_p.E137K	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	137	FG-GAP 2.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACAGCCAGGAGAAAATGGATC	0.458		NaN											0	0	0	0.00308	0	6	26				
CPS1	1373	broad.mit.edu	37	2	211473145	211473145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:211473145G>C	uc002vee.3	+	19	2385	c.2253G>C	c.(2251-2253)AAG>AAC	p.K751N	CPS1_uc010fur.2_Missense_Mutation_p.K757N|CPS1_uc010fus.2_Missense_Mutation_p.K300N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	751					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGAAATTAAGAACGTCGTAT	0.423		NaN											0	0	0	0.005524	0	37	51				
SPEG	10290	broad.mit.edu	37	2	220353543	220353543	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:220353543C>T	uc010fwg.2	+	34	8070	c.8070C>T	c.(8068-8070)TAC>TAT	p.Y2690Y		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2690	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCTACCAGGACACGG	0.612		NaN											0	0	0	0.00245	0	14	24				
CCDC140	151278	broad.mit.edu	37	2	223168711	223168711	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:223168711G>A	uc002vnb.1	+	2	474	c.90G>A	c.(88-90)GCG>GCA	p.A30A		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	30											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAGGCTGCGAATGAGTCCA	0.547		NaN											0	0	0	0.00874	0	41	66				
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:1638344G>A	uc002wfm.1	-	1	82	c.17C>T	c.(16-18)TCC>TTC	p.S6F	SIRPG_uc002wfn.1_Missense_Mutation_p.S6F|SIRPG_uc002wfo.1_Missense_Mutation_p.S6F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						ATGGGGCCAGGAGGCTGGGAC	0.557		NaN											0	0	0	0.01441	0	72	48				
FASTKD5	60493	broad.mit.edu	37	20	3128585	3128585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:3128585C>T	uc002whz.2	-	2	1443	c.1132G>A	c.(1132-1134)GGA>AGA	p.G378R	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	378					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						GCTATCTCTCCAATCTGCTTC	0.443		NaN											0	0	0	0.009535	0	32	133				
PLCB1	23236	broad.mit.edu	37	20	8678319	8678319	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:8678319G>C	uc002wnb.2	+	11	1059	c.1056G>C	c.(1054-1056)GTG>GTC	p.V352V	PLCB1_uc010zrb.1_Silent_p.V251V|PLCB1_uc002wna.2_Silent_p.V352V|PLCB1_uc002wnc.1_Silent_p.V251V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	352	PI-PLC X-box.			V -> A (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						ATCGCCAAGTGCTCCTGTCTG	0.512		NaN											0	0	0	0.01441	0	116	39				
SLC24A3	57419	broad.mit.edu	37	20	19677543	19677543	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:19677543G>C	uc002wrl.2	+	14	1791	c.1594G>C	c.(1594-1596)GTG>CTG	p.V532L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	532	Cytoplasmic (Potential).|Alpha-2.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CAGCCTCATTGTGGCCAGACA	0.383		NaN											0	0	0	0.01441	0	55	15				
MYLK2	85366	broad.mit.edu	37	20	30408244	30408244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30408244C>T	uc002wwq.2	+	3	470	c.368C>T	c.(367-369)CCT>CTT	p.P123L		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	123					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCAGGATCCTGGAAAGCCC	0.657		NaN											0	0	0	0.006999	0	39	112				
PLAGL2	5326	broad.mit.edu	37	20	30784258	30784258	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30784258C>T	uc002wxn.2	-	3	1705	c.1488G>A	c.(1486-1488)CAG>CAA	p.Q496Q		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGGGGCTACTGGAATGCTT	0.577		NaN											0	0	0	0.01441	0	58	202				
MYH7B	57644	broad.mit.edu	37	20	33575921	33575921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:33575921C>G	uc002xbi.1	+	17	1661	c.1569C>G	c.(1567-1569)ATC>ATG	p.I523M	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	481	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.I523M(1)		ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCTGTGCATCAACTTCACCA	0.562		NaN											0	0	0	0.01441	0	170	175				
C20orf132	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:35731106C>T	uc010zvu.1	-	26	3234	c.3143G>A	c.(3142-3144)GGC>GAC	p.G1048D	C20orf132_uc002xgk.2_Missense_Mutation_p.G670D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)				AGAGGACCTGCCCATGAGCTT	0.512		NaN											0	0	0	0.01441	0	208	525				
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:39797452G>A	uc002xjp.1	+	21	2546	c.2425G>A	c.(2425-2427)GAG>AAG	p.E809K	PLCG1_uc002xjo.1_Missense_Mutation_p.E809K|PLCG1_uc010zwe.1_Missense_Mutation_p.E435K|PLCG1_uc010ggf.2_Missense_Mutation_p.E133K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	809	SH3.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GAGGGAGGACGAGCTGACCTT	0.577		NaN											0	0	0	0.00623	0	37	29				
PTPRT	11122	broad.mit.edu	37	20	40790057	40790057	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:40790057C>A	uc002xkg.2	-	17	2801	c.2617G>T	c.(2617-2619)GAC>TAC	p.D873Y	PTPRT_uc010ggj.2_Missense_Mutation_p.D892Y|PTPRT_uc010ggi.2_Missense_Mutation_p.D76Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	873	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCAGCAAGTCAGCCACCCGG	0.597		NaN											1	0	5.25376e-55	0.01441	5.73252e-55	96	79				
EYA2	2139	broad.mit.edu	37	20	45633580	45633580	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:45633580G>C	uc002xsm.2	+	4	530	c.156_splice	c.e4-1	p.R52_splice	EYA2_uc010ghp.2_Splice_Site_p.R52_splice|EYA2_uc002xsn.2_Splice_Site_p.R57_splice|EYA2_uc002xso.2_Splice_Site_p.R52_splice|EYA2_uc002xsp.2_Splice_Site_p.R52_splice|EYA2_uc002xsq.2_Splice_Site_p.R52_splice	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TTTCCACACAGATCTTGCCCA	0.552		NaN											0	0	0	0.01441	0	93	71				
ARFGEF2	10564	broad.mit.edu	37	20	47592610	47592610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:47592610G>A	uc002xtx.3	+	14	1984	c.1832G>A	c.(1831-1833)AGA>AAA	p.R611K		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	611					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACATGGCAAGACGGTGTAGT	0.507		NaN											0	0	0	0.010729	0	12	85				
DIDO1	11083	broad.mit.edu	37	20	61511837	61511837	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61511837C>G	uc002ydr.1	-	16	5735	c.5471G>C	c.(5470-5472)AGA>ACA	p.R1824T	DIDO1_uc002yds.1_Missense_Mutation_p.R1824T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1824	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGAGGGGCCTCTGCTGTCCCC	0.617		NaN											0	0	0	0.01441	0	482	358				
CHRNA4	1137	broad.mit.edu	37	20	61981890	61981890	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61981890G>C	uc002yes.2	-	5	1051	c.873C>G	c.(871-873)CTC>CTG	p.L291L	CHRNA4_uc002yet.1_Silent_p.L115L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.L220L|CHRNA4_uc002yev.1_Silent_p.L115L|CHRNA4_uc010gkf.1_Silent_p.L115L	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	291	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTCGGTGATGAGCAGCAGGA	0.592		NaN											0	0	0	0.01441	0	76	453				
ZBTB46	140685	broad.mit.edu	37	20	62421703	62421703	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:62421703G>A	uc002ygv.1	-	2	609	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CATCTGAGGCGTCCGACTTGA	0.617		NaN											0	0	0	0.016522	0	22	151				
TMPRSS15	5651	broad.mit.edu	37	21	19715873	19715873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:19715873C>T	uc002ykw.2	-	12	1409	c.1378G>A	c.(1378-1380)GAC>AAC	p.D460N		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	460	Extracellular (Potential).|MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TTCCAATTGTCTCCATAATTT	0.294		NaN											0	0	0	0.01441	0	378	71				
SETD4	54093	broad.mit.edu	37	21	37429482	37429482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:37429482C>G	uc002yuw.1	-	2	1467	c.94G>C	c.(94-96)GAA>CAA	p.E32Q	SETD4_uc002yux.1_Missense_Mutation_p.E8Q|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.E32Q|SETD4_uc002yuy.2_Missense_Mutation_p.E32Q|SETD4_uc002yuz.2_Missense_Mutation_p.E8Q|SETD4_uc002yva.2_Missense_Mutation_p.E8Q	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	32										large_intestine(1)|ovary(1)	2						TCTATAAATTCAGACTTGTGG	0.398		NaN											0	0	0	0.00333	0	25	106				
BRWD1	54014	broad.mit.edu	37	21	40578084	40578084	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:40578084G>C	uc002yxk.1	-	37	4453	c.4314C>G	c.(4312-4314)TTC>TTG	p.F1438L	BRWD1_uc010goc.1_Missense_Mutation_p.F81L|BRWD1_uc002yxl.2_Missense_Mutation_p.F1438L|BRWD1_uc010god.1_Missense_Mutation_p.F356L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCCGTTGCTTGAACCTCTGGC	0.303		NaN											0	0	0	0.01441	0	55	230				
COL6A2	1292	broad.mit.edu	37	21	47531978	47531978	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:47531978C>G	uc002zia.1	+	3	283	c.201C>G	c.(199-201)CTC>CTG	p.L67L	COL6A2_uc002zhy.1_Silent_p.L67L|COL6A2_uc002zhz.1_Silent_p.L67L|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	67	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATCCTGCTCTTCCACATGA	0.617		NaN											0	0	0	0.01441	0	53	179				
CCT8L2	150160	broad.mit.edu	37	22	17072001	17072001	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:17072001C>T	uc002zlp.1	-	1	1700	c.1440G>A	c.(1438-1440)GTG>GTA	p.V480V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	480					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTCAGTTCCCACACCCATTA	0.512		NaN											0	0	0	0.01441	0	118	225				
TXNRD2	10587	broad.mit.edu	37	22	19870908	19870908	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:19870908C>T	uc011ahc.1	-	12	1059	c.1026G>A	c.(1024-1026)CTG>CTA	p.L342L	TXNRD2_uc002zql.1_Silent_p.L96L|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.L341L|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	342					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					GGGAGTCCACCAGGATCTTCT	0.617		NaN											0	0	0	0.01441	0	148	217				
TRMT2A	27037	broad.mit.edu	37	22	20100675	20100675	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20100675G>A	uc002zrk.1	-	11	1730	c.1515C>T	c.(1513-1515)CTC>CTT	p.L505L	TRMT2A_uc002zrl.1_Silent_p.L505L|TRMT2A_uc002zrm.1_Silent_p.L327L|TRMT2A_uc002zrn.1_Silent_p.L523L	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	505					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						GGATGGCCACGAGGTGCTGGG	0.612		NaN											0	0	0	0.01441	0	88	172				
LARGE	9215	broad.mit.edu	37	22	33777913	33777913	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33777913C>A	uc003and.3	-	10	1702	c.1123G>T	c.(1123-1125)GAT>TAT	p.D375Y	LARGE_uc011amd.1_Missense_Mutation_p.D174Y|LARGE_uc003ane.3_Missense_Mutation_p.D375Y|LARGE_uc010gwp.2_Missense_Mutation_p.D375Y|LARGE_uc011ame.1_Missense_Mutation_p.D307Y|LARGE_uc011amf.1_Missense_Mutation_p.D375Y|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	375	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				ACCTTTAGATCAGACACGTCT	0.562		NaN											1	0	3.57733e-08	0.009535	3.69928e-08	30	145				
LARGE	9215	broad.mit.edu	37	22	33780253	33780253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33780253C>A	uc003and.3	-	9	1509	c.930G>T	c.(928-930)ATG>ATT	p.M310I	LARGE_uc011amd.1_Missense_Mutation_p.M109I|LARGE_uc003ane.3_Missense_Mutation_p.M310I|LARGE_uc010gwp.2_Missense_Mutation_p.M310I|LARGE_uc011ame.1_Missense_Mutation_p.M242I|LARGE_uc011amf.1_Missense_Mutation_p.M310I|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	310	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GCTCCCATTTCATCTTCCGCA	0.493		NaN											1	0	1.31726e-23	0.01441	1.40364e-23	60	101				
NOL12	79159	broad.mit.edu	37	22	38087186	38087186	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:38087186C>G	uc003atp.2	+	6	541	c.485C>G	c.(484-486)TCC>TGC	p.S162C	NOL12_uc011anm.1_3'UTR|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	162						nucleolus	rRNA binding				0	Melanoma(58;0.0574)					CCTAGGATCTCCTCCCTCACA	0.577		NaN											0	0	0	0.01441	0	67	141				
SCO2	9997	broad.mit.edu	37	22	50962178	50962178	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:50962178G>T	uc003bma.2	-	2	839	c.663C>A	c.(661-663)ATC>ATA	p.I221I	SCO2_uc003blz.3_Silent_p.I221I	NM_005138	NP_005129	O43819	SCO2_HUMAN	cytochrome oxidase deficient homolog 2	221	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGTCCACGATGTAGTCCT	0.572		NaN											1	0	4.83248e-46	0.01441	5.24769e-46	75	433				
SEC13	6396	broad.mit.edu	37	3	10354378	10354378	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:10354378G>A	uc003bvn.2	-	4	320	c.201C>T	c.(199-201)CAC>CAT	p.H67H	SEC13_uc003bvl.2_5'UTR|SEC13_uc003bvm.2_Silent_p.H53H|SEC13_uc003bvp.2_Silent_p.H70H|SEC13_uc003bvo.2_Silent_p.H113H|SEC13_uc003bvq.1_Silent_p.H53H|SEC13_uc003bvr.1_Silent_p.H53H|SEC13_uc011aul.1_Silent_p.H67H	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	67	WD 2.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						CGTACATGGGGTGAGCCCAGG	0.562		NaN											0	0	0	0.010818	0	28	180				
LAMB2	3913	broad.mit.edu	37	3	49169709	49169709	+	Missense_Mutation	SNP	C	C	G	rs1131783		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49169709C>G	uc003cwe.2	-	3	678	c.379G>C	c.(379-381)GAG>CAG	p.E127Q	LAMB2_uc003cwf.1_Missense_Mutation_p.E127Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	127	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACCATTCTCTGACTGCCAC	0.602		NaN											0	0	0	0.01441	0	61	35				
CCDC71	64925	broad.mit.edu	37	3	49201104	49201104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49201104C>G	uc003cwg.3	-	2	676	c.538G>C	c.(538-540)GAG>CAG	p.E180Q		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	180										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGGGCCTCAAGGACAACA	0.587		NaN											0	0	0	0.01441	0	118	58				
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:102195877C>T	uc003dvs.1	+	17	1946	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	ZPLD1_uc003dvt.1_Missense_Mutation_p.S371L|ZPLD1_uc011bhg.1_Missense_Mutation_p.S355L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	355	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						ACCAACAATTCGCAACTTGGT	0.308		NaN											0	0	0	0.013114	0	41	93				
PLCXD2	257068	broad.mit.edu	37	3	111394145	111394145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:111394145C>A	uc003dya.2	+	1	639	c.53C>A	c.(52-54)TCC>TAC	p.S18Y	PLCXD2_uc003dyb.2_Missense_Mutation_p.S18Y|PLCXD2_uc003dxz.2_Missense_Mutation_p.S18Y	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	18					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						ACCATCTGCTCCCCCAACCCC	0.582		NaN											1	0	3.90053e-15	0.012213	4.1273e-15	30	179				
KIAA2018	205717	broad.mit.edu	37	3	113379606	113379606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:113379606G>A	uc003eam.2	-	7	1334	c.923C>T	c.(922-924)TCA>TTA	p.S308L	KIAA2018_uc003eal.2_Missense_Mutation_p.S252L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	308					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GGCAGTTGCTGAGGAGCTGTG	0.413		NaN											0	0	0	0.01441	0	50	77				
KTELC1	56983	broad.mit.edu	37	3	119209463	119209463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:119209463C>A	uc003ecm.2	+	9	947	c.863C>A	c.(862-864)TCA>TAA	p.S288*	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Nonsense_Mutation_p.S129*	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	288						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		CTGTGTGGCTCACTTGTTTTC	0.413		NaN											1	0	3.76114e-14	0.004289	3.97057e-14	37	215				
EEFSEC	60678	broad.mit.edu	37	3	128126998	128126998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:128126998G>A	uc003eki.2	+	7	1725	c.1687G>A	c.(1687-1689)GAG>AAG	p.E563K	EEFSEC_uc003ekj.2_3'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	563						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CACCAGGCAGGAGGAGAGCGC	0.642		NaN											0	0	0	0.01441	0	101	123				
PCOLCE2	26577	broad.mit.edu	37	3	142539827	142539827	+	Missense_Mutation	SNP	G	G	C	rs2304735		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:142539827G>C	uc003evd.2	-	8	1206	c.1010C>G	c.(1009-1011)TCG>TGG	p.S337W		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	337	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						GTTGATGATCGAGACTGTGGC	0.502		NaN											0	0	0	0.008361	0	29	48				
ZIC1	7545	broad.mit.edu	37	3	147130454	147130454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:147130454C>T	uc003ewe.2	+	2	1851	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	378	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAGTTCGCTGCGCAAACACAT	0.597		NaN											0	0	0	0.01441	0	61	396				
SLC33A1	9197	broad.mit.edu	37	3	155546144	155546144	+	Missense_Mutation	SNP	G	G	A	rs149578822		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:155546144G>A	uc003fan.3	-	6	1886	c.1505C>T	c.(1504-1506)TCA>TTA	p.S502L	SLC33A1_uc003fao.1_Missense_Mutation_p.S502L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	502	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTAACACATGAGCCACCCAG	0.313		NaN											0	0	0	0.01441	0	51	55				
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:178928079G>C	uc003fjk.2	+	8	1514	c.1357G>C	c.(1357-1359)GAA>CAA	p.E453Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.01441	0	82	74		Valid		
MCCC1	56922	broad.mit.edu	37	3	182759419	182759419	+	Silent	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:182759419T>C	uc003fle.2	-	11	1340	c.1203A>G	c.(1201-1203)CCA>CCG	p.P401P	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.P284P|MCCC1_uc003flg.2_Silent_p.P292P|MCCC1_uc011bqp.1_Silent_p.P354P	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	401	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGTGCACTAATGGGCCTGCCA	0.458		NaN											0	0	0	0.01441	0	71	99				
EIF4G1	1981	broad.mit.edu	37	3	184041700	184041700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184041700G>C	uc003fnp.2	+	16	2605	c.2407G>C	c.(2407-2409)GAG>CAG	p.E803Q	EIF4G1_uc003fno.1_Missense_Mutation_p.E744Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.E639Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.E514Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E716Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E639Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E763Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E804Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E803Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E810Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E608Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E607Q|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	803	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCATTTTTGAGAAGGCCAT	0.517		NaN											0	0	0	0.01441	0	117	297				
EPHB3	2049	broad.mit.edu	37	3	184299313	184299313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184299313G>T	uc003foz.2	+	16	3337	c.2900G>T	c.(2899-2901)CGT>CTT	p.R967L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	967	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACCTGCTCCGTATTGGGGTC	0.607		NaN											1	0	2.44813e-32	0.01441	2.63334e-32	58	72				
MAP3K13	9175	broad.mit.edu	37	3	185146688	185146688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:185146688G>A	uc010hyf.2	+	3	585	c.319G>A	c.(319-321)GGA>AGA	p.G107R	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.G107R|MAP3K13_uc010hyg.2_5'UTR	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	107					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACGGTGGACGGAGAGAGCAC	0.517		NaN											0	0	0	0.014323	0	22	60				
ZNF721	170960	broad.mit.edu	37	4	437033	437033	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:437033T>G	uc003gag.2	-	3	1914	c.1223A>C	c.(1222-1224)AAG>ACG	p.K408T	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.K440T|ZNF721_uc010ibe.2_Missense_Mutation_p.K396T	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	408						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GTGAATTCTCTTATGTGCAGT	0.393		NaN											0	0	0	0.013726	0	34	46				
MXD4	10608	broad.mit.edu	37	4	2252408	2252408	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252408C>G	uc003geu.1	-	6	525	c.493G>C	c.(493-495)GAG>CAG	p.E165Q		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	165					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						GGGCCAAACTCCATGCCCTCT	0.607		NaN											0	0	0	0.01441	0	47	96				
MXD4	10608	broad.mit.edu	37	4	2252892	2252892	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252892C>G	uc003geu.1	-	5	423	c.391G>C	c.(391-393)GAG>CAG	p.E131Q		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	131					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						GACAGCTGCTCCAGGCGCCGC	0.677		NaN											0	0	0	0.015359	0	26	45				
HTRA3	94031	broad.mit.edu	37	4	8284261	8284261	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:8284261G>A	uc003gla.2	+	2	687	c.483G>A	c.(481-483)CTG>CTA	p.L161L	HTRA3_uc003gkz.2_Silent_p.L161L	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	161					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						AGCTCTTCCTGAGGTGGGTGA	0.617		NaN											0	0	0	0.006999	0	38	44				
ZCCHC4	29063	broad.mit.edu	37	4	25351119	25351119	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:25351119C>T	uc003grl.3	+	7	801	c.765C>T	c.(763-765)GCC>GCT	p.A255A	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Silent_p.A21A	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	255							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				TCCAGACTGCCCTTGAAGTAT	0.408		NaN											0	0	0	0.01441	0	54	101				
SHISA3	152573	broad.mit.edu	37	4	42403228	42403228	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:42403228C>T	uc003gwp.2	+	2	695	c.477C>T	c.(475-477)TCC>TCT	p.S159S		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	159	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						GGGCACCCTCCCGGCAGTCCA	0.672		NaN											0	0	0	0.01441	0	95	267				
GABRG1	2565	broad.mit.edu	37	4	46043250	46043250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:46043250C>A	uc003gxb.2	-	9	1305	c.1153G>T	c.(1153-1155)GGA>TGA	p.G385*		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	385	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGTGGATCCAGGATGGAGA	0.388		NaN											1	0	7.16444e-05	0.003954	7.26018e-05	25	21				
GABRB1	2560	broad.mit.edu	37	4	47427997	47427997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:47427997C>T	uc003gxh.2	+	9	1761	c.1387C>T	c.(1387-1389)CTT>TTT	p.L463F	GABRB1_uc011bze.1_Missense_Mutation_p.L393F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	463	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTTTTCTCTTTTTAATGT	0.428		NaN											0	0	0	0.01441	0	70	89				
AGXT2L1	64850	broad.mit.edu	37	4	109677623	109677623	+	Missense_Mutation	SNP	G	G	A	rs112469981		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:109677623G>A	uc003hzc.2	-	4	542	c.361C>T	c.(361-363)CGC>TGC	p.R121C	AGXT2L1_uc010imc.2_Missense_Mutation_p.R115C|AGXT2L1_uc011cfm.1_Missense_Mutation_p.R81C|AGXT2L1_uc011cfn.1_Missense_Mutation_p.R48C|AGXT2L1_uc011cfo.1_Missense_Mutation_p.R63C	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	121					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CGAGCCAGGCGTAAGGCTAAG	0.403		NaN											0	0	0	0.008871	0	17	61				
ALPK1	80216	broad.mit.edu	37	4	113352240	113352240	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:113352240C>G	uc003iap.3	+	11	1816	c.1537C>G	c.(1537-1539)CAA>GAA	p.Q513E	ALPK1_uc003ian.3_Missense_Mutation_p.Q513E|ALPK1_uc011cfx.1_Missense_Mutation_p.Q435E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.Q341E	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	513							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCACATTGTCAAAGAGACAC	0.408		NaN											0	0	0	0.008361	0	30	29				
USP53	54532	broad.mit.edu	37	4	120181753	120181753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:120181753C>G	uc003ics.3	+	10	1833	c.767C>G	c.(766-768)TCT>TGT	p.S256C	USP53_uc003icr.3_Missense_Mutation_p.S256C|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	256					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						TCCGAGCATTCTGACTTGACC	0.378		NaN											0	0	0	0.01441	0	42	44				
OTUD4	54726	broad.mit.edu	37	4	146063358	146063358	+	Silent	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:146063358A>G	uc003ika.3	-	18	1755	c.1617T>C	c.(1615-1617)TTT>TTC	p.F539F	OTUD4_uc003ijz.3_Silent_p.F538F	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	603							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CTGTTGGTCCAAAAGTTGTAG	0.468		NaN											0	0	0	0.01441	0	53	170				
CCDC110	256309	broad.mit.edu	37	4	186380089	186380089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:186380089T>C	uc003ixu.3	-	6	1728	c.1652A>G	c.(1651-1653)CAC>CGC	p.H551R	CCDC110_uc003ixv.3_Missense_Mutation_p.H514R|CCDC110_uc011ckt.1_Missense_Mutation_p.H551R	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	551	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAGTTTTGTGTTCCTTACT	0.303		NaN											0	0	0	0.003163	0	13	35				
DNAH5	1767	broad.mit.edu	37	5	13913870	13913870	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:13913870G>A	uc003jfd.2	-	11	1560	c.1518C>T	c.(1516-1518)GAC>GAT	p.D506D	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	506	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TAGTGGCCATGTCTTCCAGCC	0.358		NaN							Kartagener_syndrome				0	0	0	0.01441	0	45	35				
FBXL7	23194	broad.mit.edu	37	5	15937113	15937113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:15937113C>G	uc003jfn.1	+	4	1775	c.1294C>G	c.(1294-1296)CGG>GGG	p.R432G		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	432	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CAACCTCAAGCGGCTCAGCCT	0.582		NaN											0	0	0	0.012319	0	23	70				
PDZD2	23037	broad.mit.edu	37	5	32074145	32074145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:32074145G>C	uc003jhl.2	+	18	3321	c.2933G>C	c.(2932-2934)AGA>ACA	p.R978T	PDZD2_uc003jhm.2_Missense_Mutation_p.R978T|PDZD2_uc011cnx.1_Missense_Mutation_p.R804T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	978					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GAGTTTGACAGAGAAGGGGAC	0.607		NaN											0	0	0	0.009535	0	33	53				
WDR41	55255	broad.mit.edu	37	5	76736658	76736658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:76736658G>C	uc003kff.1	-	9	1149	c.862C>G	c.(862-864)CAT>GAT	p.H288D	WDR41_uc011csy.1_Missense_Mutation_p.H230D|WDR41_uc011csz.1_Missense_Mutation_p.H233D|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	288											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATGTGAAATGATGAATAGAA	0.343		NaN											0	0	0	0.007413	0	20	33				
BRD8	10902	broad.mit.edu	37	5	137488324	137488324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:137488324C>G	uc003lcf.1	-	21	2758	c.2703G>C	c.(2701-2703)TGG>TGC	p.W901C	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	901					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGTTTCCCTCCAGTTGCCCA	0.517		NaN											0	0	0	0.01441	0	111	148				
TMCO6	55374	broad.mit.edu	37	5	140024595	140024595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140024595C>G	uc003lgl.2	+	12	1495	c.1394C>G	c.(1393-1395)TCA>TGA	p.S465*	TMCO6_uc003lgm.2_Nonsense_Mutation_p.S471*|TMCO6_uc010jft.2_Nonsense_Mutation_p.S225*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.S356*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.S225*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	465					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCAGTCAGGGCTGCAA	0.537		NaN											0	0	0	0.01441	0	72	104				
PCDHGA3	56112	broad.mit.edu	37	5	140725379	140725379	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140725379G>A	uc003ljm.1	+	1	1779	c.1779G>A	c.(1777-1779)GCG>GCA	p.A593A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A353A|PCDHGA3_uc011dap.1_Silent_p.A593A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	593	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692		NaN											0	0	0	0.01441	0	108	254				
PCDH1	5097	broad.mit.edu	37	5	141233792	141233792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233792C>G	uc003llp.2	-	5	3646	c.3529G>C	c.(3529-3531)GAC>CAC	p.D1177H		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCGGTCTTCCGGGGGG	0.667		NaN											0	0	0	0.004878	0	33	31				
PCDH1	5097	broad.mit.edu	37	5	141233828	141233828	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233828C>G	uc003llp.2	-	5	3610	c.3493G>C	c.(3493-3495)GAG>CAG	p.E1165Q		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCGCAGGCTCCTGCCCTCCT	0.677		NaN											0	0	0	0.003755	0	28	27				
ADAM19	8728	broad.mit.edu	37	5	156946911	156946911	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:156946911G>C	uc003lwz.2	-	6	600	c.536C>G	c.(535-537)TCC>TGC	p.S179C	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.S110C	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	179					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGCTTGGAGTGCTCGAA	0.552		NaN											0	0	0	0.009718	0	41	150				
DOCK2	1794	broad.mit.edu	37	5	169507184	169507184	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:169507184G>A	uc003maf.2	+	50	5264	c.5184G>A	c.(5182-5184)GAG>GAA	p.E1728E	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.E1220E|DOCK2_uc003mah.2_Silent_p.E284E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1728					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCATGAGTTCATGAGTG	0.532		NaN											0	0	0	0.00499	0	17	92				
RANBP17	64901	broad.mit.edu	37	5	170667947	170667947	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:170667947C>A	uc003mba.2	+	23	2454	c.2438C>A	c.(2437-2439)TCC>TAC	p.S813Y	RANBP17_uc003mbb.2_Missense_Mutation_p.S138Y|RANBP17_uc003mbd.2_Missense_Mutation_p.S176Y|RANBP17_uc010jjs.2_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	813					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGATCCTGTCCCTTGGGAGC	0.383		NaN	T	TRD@	ALL								1	0	2.46105e-21	0.010818	2.61631e-21	30	81				
MAPK9	5601	broad.mit.edu	37	5	179666936	179666936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:179666936C>A	uc003mls.3	-	10	1319	c.1048G>T	c.(1048-1050)GAA>TAA	p.E350*	MAPK9_uc003mlt.3_Nonsense_Mutation_p.E350*|MAPK9_uc010jlc.2_Nonsense_Mutation_p.E350*|MAPK9_uc003mlv.3_Nonsense_Mutation_p.E350*	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	350					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCATTCTTCAATTGCATGT	0.348		NaN											1	0	1.2644e-06	0.010504	1.29573e-06	20	58				
TFAP2A	7020	broad.mit.edu	37	6	10410427	10410427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:10410427G>A	uc003myr.2	-	2	439	c.187C>T	c.(187-189)CAG>TAG	p.Q63*	TFAP2A_uc003myq.2_Nonsense_Mutation_p.Q57*|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myt.2_Nonsense_Mutation_p.Q59*|TFAP2A_uc003myu.1_Nonsense_Mutation_p.Q63*|TFAP2A_uc003myv.1_Nonsense_Mutation_p.Q49*|TFAP2A_uc011dii.1_Nonsense_Mutation_p.Q59*|uc003myw.2_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	63	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGATAGGCTGGTAGGGTGGG	0.657		NaN											0	0	0	0.01441	0	82	136				
TRIM27	5987	broad.mit.edu	37	6	28891284	28891284	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:28891284G>A	uc003nlr.2	-	1	485	c.126C>T	c.(124-126)CGC>CGT	p.R42R	TRIM27_uc003nls.2_Silent_p.R42R|TRIM27_uc003nlt.1_Silent_p.R42R	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	42	RING-type.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						TGCCCCAGCAGCGGGCGAGGC	0.672		NaN	T	RET	papillary thyroid								0	0	0	0.006214	0	10	42				
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:29408455C>A	uc011dlp.1	+	1	663	c.663C>A	c.(661-663)CTC>CTA	p.L221L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGCGTATCCTCGTTACCATCT	0.592		NaN											1	0	1.43987e-31	0.01441	1.54514e-31	70	265				
HLA-DRA	3122	broad.mit.edu	37	6	32407746	32407746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:32407746C>T	uc003obh.2	+	1	100	c.19C>T	c.(19-21)CCT>TCT	p.P7S	HLA-DRA_uc003obi.2_Missense_Mutation_p.P7S	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	7					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						AAGTGGAGTCCCTGTGCTAGG	0.473		NaN							T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				0	0	0	0.008871	0	17	26				
PFDN6	10471	broad.mit.edu	37	6	33257970	33257970	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33257970G>A	uc003odt.1	+	3	199	c.84G>A	c.(82-84)TCG>TCA	p.S28S	WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Silent_p.S28S	NM_014260	NP_055075	O15212	PFD6_HUMAN	HLA class II region expressed gene KE2	28					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding				0						AATCCATGTCGGGGAGGCAGA	0.468		NaN											0	0	0	0.00245	0	14	67				
ITPR3	3710	broad.mit.edu	37	6	33632979	33632979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33632979G>C	uc011drk.1	+	13	1617	c.1398G>C	c.(1396-1398)CAG>CAC	p.Q466H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	466	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCATCAGCCAGAATGACCGCA	0.567		NaN											0	0	0	0.01441	0	42	161				
HMGA1	3159	broad.mit.edu	37	6	34208621	34208621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:34208621G>C	uc003oit.2	+	3	386	c.64G>C	c.(64-66)GAG>CAG	p.E22Q	HMGA1_uc011dso.1_Missense_Mutation_p.E22Q|HMGA1_uc003oiv.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiw.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiu.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiy.2_Missense_Mutation_p.E22Q|HMGA1_uc003oiz.2_Missense_Mutation_p.E22Q|HMGA1_uc003oja.2_Missense_Mutation_p.E22Q|HMGA1_uc003oix.2_Missense_Mutation_p.E22Q|HMGA1_uc010jvl.2_RNA|HMGA1_uc003ojc.2_Missense_Mutation_p.E22Q|HMGA1_uc011dsp.1_RNA|HMGA1_uc003ojd.2_Missense_Mutation_p.E22Q	NM_145899	NP_665906	P17096	HMGA1_HUMAN	high mobility group AT-hook 1 isoform a	22	A.T hook 1.				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity				0						GGACGGCACTGAGAAGCGGGG	0.622		NaN	T	NaN	microfollicular thyroid adenoma| various benign mesenchymal tumors,								0	0	0	0.01441	0	78	100				
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:35423591C>T	uc003oko.1	+	2	501	c.316C>T	c.(316-318)CGG>TGG	p.R106W	FANCE_uc010jvw.1_Missense_Mutation_p.R106W	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						GATGGCCGTTCGGCCATCGCT	0.607		NaN	N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.013114	0	43	121				
KHDRBS2	202559	broad.mit.edu	37	6	62688006	62688006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:62688006G>A	uc003peg.2	-	4	695	c.448C>T	c.(448-450)CAT>TAT	p.H150Y		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.H150Y(1)		skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAATGCATGACTCATACGT	0.373		NaN											0	0	0	0.014323	0	19	56				
MTO1	25821	broad.mit.edu	37	6	74171644	74171644	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:74171644G>T	uc003pgy.3	+	1	191	c.67G>T	c.(67-69)GCA>TCA	p.A23S	MTO1_uc010kav.2_Missense_Mutation_p.A23S|MTO1_uc003pgz.3_Missense_Mutation_p.A23S|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Intron|MTO1_uc003phc.1_5'Flank	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	23					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						ATTTCCGTTGGCACGGTTGAG	0.592		NaN											1	0	1.7489e-18	0.011902	1.8549e-18	42	115				
TAAR8	83551	broad.mit.edu	37	6	132874467	132874467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:132874467G>C	uc011ecj.1	+	1	636	c.636G>C	c.(634-636)ATG>ATC	p.M212I		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	212	Helical; Name=5; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CCCTTGTTATGATAATTCTTT	0.328		NaN											0	0	0	0.004482	0	9	22				
SASH1	23328	broad.mit.edu	37	6	148865205	148865205	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:148865205G>C	uc003qme.1	+	18	3074	c.2599G>C	c.(2599-2601)GAA>CAA	p.E867Q	SASH1_uc011eeb.1_Missense_Mutation_p.E628Q|SASH1_uc003qmf.1_Missense_Mutation_p.E277Q	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572		NaN											0	0	0	0.01441	0	196	111				
ULBP1	80329	broad.mit.edu	37	6	150289814	150289814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:150289814C>G	uc003qnp.2	+	2	200	c.157C>G	c.(157-159)CAA>GAA	p.Q53E		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	53	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTGTGAAGTTCAAGGCCTGGT	0.463		NaN											0	0	0	0.01441	0	145	73				
SYNE1	23345	broad.mit.edu	37	6	152768727	152768727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:152768727C>T	uc010kiw.2	-	29	4137	c.3535G>A	c.(3535-3537)GAG>AAG	p.E1179K	SYNE1_uc003qot.3_Missense_Mutation_p.E1186K|SYNE1_uc003qou.3_Missense_Mutation_p.E1179K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1162K|SYNE1_uc003qow.2_Missense_Mutation_p.E474K|SYNE1_uc003qox.1_Missense_Mutation_p.E695K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1179	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGGGTCTCACCCCTTTTG	0.423		NaN								HNSCC(10;0.0054)			0	0	0	0.01441	0	69	34				
MYCT1	80177	broad.mit.edu	37	6	153043097	153043097	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:153043097G>C	uc003qpd.3	+	2	425	c.417G>C	c.(415-417)CTG>CTC	p.L139L	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.L139L	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	139						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCTCAGCCTGGCCAGTCTCA	0.493		NaN											0	0	0	0.01441	0	60	23				
PSMB1	5689	broad.mit.edu	37	6	170862293	170862293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:170862293C>T	uc011ehe.1	-	1	125	c.38G>A	c.(37-39)AGA>AAA	p.R13K	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCCCAAGTCTCTGCCAGGAGC	0.607		NaN											0	0	0	0.004007	0	14	5				
SDK1	221935	broad.mit.edu	37	7	4051844	4051844	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:4051844G>T	uc003smx.2	+	16	2536	c.2397G>T	c.(2395-2397)GGG>GGT	p.G799G	SDK1_uc010kso.2_Silent_p.G75G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	799	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACAACGGGGTGTTGCGTG	0.502		NaN											1	0	3.66986e-57	0.01441	4.01391e-57	89	90				
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:5568242C>T	uc003sos.3	-	3	508	c.472G>A	c.(472-474)GGG>AGG	p.G158R	ACTB_uc003sor.3_Missense_Mutation_p.G36R|ACTB_uc003sot.3_Missense_Mutation_p.G158R|ACTB_uc003soq.3_Missense_Mutation_p.G36R|ACTB_uc010ksy.2_Missense_Mutation_p.G36R	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	158					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607		NaN											0	0	0	0.01441	0	84	264				
SOSTDC1	25928	broad.mit.edu	37	7	16502559	16502559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16502559G>A	uc003stg.2	-	2	416	c.235C>T	c.(235-237)CGT>TGT	p.R79C	SOSTDC1_uc003sth.2_Missense_Mutation_p.R103C	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	79	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGGTGGAACGCAGTTCCCGG	0.502		NaN											0	0	0	0.006999	0	40	38				
BZW2	28969	broad.mit.edu	37	7	16745684	16745684	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16745684G>C	uc003stl.2	+	12	1410	c.1232_splice	c.e12-1	p.E411_splice	BZW2_uc003stm.2_Splice_Site_p.E217_splice|BZW2_uc003stj.2_Splice_Site_p.E411_splice|BZW2_uc003stk.2_Splice_Site_p.E335_splice|BZW2_uc003stp.2_Splice_Site_p.E259_splice|BZW2_uc010kua.2_Splice_Site_p.E370_splice	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCTCTCCTAGAATCCGAATC	0.428		NaN											0	0	0	0.010504	0	20	59				
CDCA7L	55536	broad.mit.edu	37	7	21951271	21951271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:21951271C>G	uc010kuk.2	-	3	387	c.267G>C	c.(265-267)CAG>CAC	p.Q89H	CDCA7L_uc003sve.3_Missense_Mutation_p.Q55H|CDCA7L_uc010kul.2_Intron|CDCA7L_uc003svf.3_Missense_Mutation_p.Q88H|CDCA7L_uc011jyk.1_Missense_Mutation_p.Q89H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	89	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						TCAGATCACTCTGCGTAAATC	0.388		NaN											0	0	0	0.01441	0	64	66				
AVL9	23080	broad.mit.edu	37	7	32623518	32623518	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:32623518G>C	uc003tcv.1	+	16	2092	c.1946G>C	c.(1945-1947)TGA>TCA	p.*649S	AVL9_uc011kai.1_Intron|uc003tcw.2_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.E433Q	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	649						integral to membrane					0						GAGAAGCCTTGAGCAAGGCGT	0.522		NaN											0	0	0	0.00308	0	8	31				
PKD1L1	168507	broad.mit.edu	37	7	47894544	47894544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:47894544G>C	uc003tny.1	-	30	4795	c.4795C>G	c.(4795-4797)CTA>GTA	p.L1599V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1599	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TCTATCTGTAGAGATTCCTGG	0.398		NaN											0	0	0	0.01441	0	50	43				
DDC	1644	broad.mit.edu	37	7	50595941	50595941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:50595941C>G	uc003tpf.3	-	6	694	c.608G>C	c.(607-609)GGA>GCA	p.G203A	DDC_uc010kza.2_Missense_Mutation_p.G118A|DDC_uc003tpg.3_Missense_Mutation_p.G203A	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	203					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TAATTTCACTCCACCAATTAA	0.527		NaN											0	0	0	0.007291	0	29	102				
ZNF713	349075	broad.mit.edu	37	7	55991305	55991305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:55991305C>G	uc003trc.1	+	3	219	c.181C>G	c.(181-183)CAG>GAG	p.Q61E	ZNF713_uc003tra.1_Missense_Mutation_p.Q74E|MRPS17_uc003trb.2_Missense_Mutation_p.Q61E	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			aatagggtatcagctttgtaa	0.214		NaN											0	0	0	0.00308	0	8	10				
ZNF735	730291	broad.mit.edu	37	7	63673568	63673568	+	Silent	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:63673568A>G	uc011kdn.1	+	2	138	c.138A>G	c.(136-138)TTA>TTG	p.L46L		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTGATGTTAGAGAACTACA	0.393		NaN											0	0	0	0.004007	0	16	36				
AUTS2	26053	broad.mit.edu	37	7	70255708	70255708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:70255708C>G	uc003tvw.3	+	19	4249	c.3506C>G	c.(3505-3507)TCC>TGC	p.S1169C	AUTS2_uc003tvx.3_Missense_Mutation_p.S1145C|AUTS2_uc011keg.1_Missense_Mutation_p.S621C	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1169	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGGCTCCACTCCGTGCACCCC	0.701		NaN											0	0	0	0.003755	0	32	110				
PCLO	27445	broad.mit.edu	37	7	82546033	82546033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:82546033T>C	uc003uhx.2	-	7	11558	c.11269A>G	c.(11269-11271)ATG>GTG	p.M3757V	PCLO_uc003uhv.2_Missense_Mutation_p.M3757V|PCLO_uc010lec.2_Missense_Mutation_p.M722V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3688					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTCGTGCCATTGTGTTGGTT	0.473		NaN											0	0	0	0.005443	0	26	31				
GRM3	2913	broad.mit.edu	37	7	86468800	86468800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:86468800C>G	uc003uid.2	+	4	3069	c.1970C>G	c.(1969-1971)TCA>TGA	p.S657*	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.S529*|GRM3_uc010leh.2_Nonsense_Mutation_p.S249*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	657	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCTGTTACTCAGCCCTGCTG	0.522		NaN											0	0	0	0.005524	0	38	111				
DBF4	10926	broad.mit.edu	37	7	87537236	87537236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87537236G>A	uc003ujf.1	+	12	2287	c.1783G>A	c.(1783-1785)GAA>AAA	p.E595K	DBF4_uc003ujh.1_Missense_Mutation_p.E335K|DBF4_uc003ujg.1_Missense_Mutation_p.E371K|DBF4_uc011khf.1_Missense_Mutation_p.E362K	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	595					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAAATGCTGAATTTGATAA	0.308		NaN											0	0	0	0.007835	0	39	45				
ADAM22	53616	broad.mit.edu	37	7	87778343	87778343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87778343C>T	uc003ujn.2	+	18	1616	c.1537C>T	c.(1537-1539)CGT>TGT	p.R513C	ADAM22_uc003ujk.1_Missense_Mutation_p.R513C|ADAM22_uc003ujl.1_Missense_Mutation_p.R513C|ADAM22_uc003ujm.2_Missense_Mutation_p.R513C|ADAM22_uc003ujo.2_Missense_Mutation_p.R513C|ADAM22_uc003ujp.1_Missense_Mutation_p.R565C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	513	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGATATTCGTGAAACGTG	0.383		NaN											0	0	0	0.001984	0	6	29				
STEAP4	79689	broad.mit.edu	37	7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87913437G>A	uc003ujs.2	-	2	253	c.148C>T	c.(148-150)CGA>TGA	p.R50*	STEAP4_uc010lek.2_Nonsense_Mutation_p.R50*|STEAP4_uc003ujt.2_Nonsense_Mutation_p.R50*	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	50					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438		NaN											0	0	0	0.01441	0	55	55				
SAMD9	54809	broad.mit.edu	37	7	92734156	92734156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:92734156T>C	uc003umf.2	-	3	1511	c.1255A>G	c.(1255-1257)AAA>GAA	p.K419E	SAMD9_uc003umg.2_Missense_Mutation_p.K419E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	419						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGTGGCATTTATTTGTTACA	0.328		NaN											0	0	0	0.008871	0	20	16				
PTPRZ1	5803	broad.mit.edu	37	7	121652861	121652861	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:121652861C>G	uc003vjy.2	+	12	4156	c.3761C>G	c.(3760-3762)TCT>TGT	p.S1254C	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1254	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CATATGCACTCTGCTTCACTT	0.388		NaN											0	0	0	0.013114	0	46	64				
STRA8	346673	broad.mit.edu	37	7	134925346	134925346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:134925346G>C	uc011kpx.1	+	2	136	c.136G>C	c.(136-138)GAG>CAG	p.E46Q		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	46					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						ACAGCTGCAGGAGCTTGAGCA	0.552		NaN											0	0	0	0.003755	0	26	117				
RBM33	155435	broad.mit.edu	37	7	155511101	155511101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:155511101C>G	uc010lqk.1	+	9	1592	c.1224C>G	c.(1222-1224)AGC>AGG	p.S408R	RBM33_uc011kvv.1_Missense_Mutation_p.S217R	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	408	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGTTCCGAGCCAGCCGAGAC	0.458		NaN											0	0	0	0.004007	0	15	65				
VIPR2	7434	broad.mit.edu	37	7	158824561	158824561	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:158824561C>T	uc003woh.2	-	12	1288	c.1102_splice	c.e12-1	p.G368_splice	VIPR2_uc010lqx.2_Splice_Site	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2						cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCACCAGGCCCTGCAATGAGA	0.597		NaN											0	0	0	0.01441	0	92	61				
FBXO25	26260	broad.mit.edu	37	8	385664	385664	+	Nonsense_Mutation	SNP	C	C	G	rs140242296	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:385664C>G	uc003wox.2	+	5	604	c.338C>G	c.(337-339)TCA>TGA	p.S113*	FBXO25_uc003woy.2_Nonsense_Mutation_p.S113*|FBXO25_uc003woz.2_Nonsense_Mutation_p.S46*|FBXO25_uc003wpa.2_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	113						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTAGACTTCTCAAGTGCAATT	0.348		NaN											0	0	0	0.01441	0	49	40				
CSMD1	64478	broad.mit.edu	37	8	3141781	3141781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:3141781C>A	uc011kwk.1	-	26	4431	c.4041G>T	c.(4039-4041)AAG>AAT	p.K1347N	CSMD1_uc011kwj.1_Missense_Mutation_p.K739N|CSMD1_uc003wqe.2_Missense_Mutation_p.K503N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1347	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTCCACTCCTTCAGCAGGA	0.557		NaN									OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	6.31663e-08	0.003163	6.50241e-08	15	19				
XPO7	23039	broad.mit.edu	37	8	21840321	21840321	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21840321G>A	uc003xaa.3	+	11	1377	c.1275G>A	c.(1273-1275)CTG>CTA	p.L425L	XPO7_uc010lti.2_Silent_p.L434L|XPO7_uc010ltk.2_Silent_p.L426L	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	425				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACATCATACTGAGGTAAGGAA	0.507		NaN											0	0	0	0.00623	0	40	45				
HR	55806	broad.mit.edu	37	8	21978464	21978464	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21978464C>A	uc003xas.2	-	11	3040	c.2375G>T	c.(2374-2376)CGC>CTC	p.R792L	HR_uc003xat.2_Missense_Mutation_p.R792L	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	792							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTGGTGATGCGGTCATCCTG	0.672		NaN											1	0	1.9806e-07	0.014323	2.03425e-07	23	25				
BMP1	649	broad.mit.edu	37	8	22035399	22035399	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:22035399G>A	uc003xbg.2	+	6	1009	c.765G>A	c.(763-765)CAG>CAA	p.Q255Q	BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.Q255Q|BMP1_uc003xbb.2_Silent_p.Q255Q|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.Q4Q|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.Q4Q|BMP1_uc011kzc.1_Silent_p.Q4Q|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	255	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGAGCCTCAGGAGGTGGAGT	0.592		NaN											0	0	0	0.01441	0	102	369				
ADRA1A	148	broad.mit.edu	37	8	26722121	26722121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:26722121G>C	uc003xfh.1	-	1	802	c.366C>G	c.(364-366)ATC>ATG	p.I122M	ADRA1A_uc003xfc.1_Missense_Mutation_p.I122M|ADRA1A_uc010lul.1_Missense_Mutation_p.I122M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.I122M|ADRA1A_uc010lum.1_Missense_Mutation_p.I122M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.I122M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	122	Helical; Name=3; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGTAGCGGTCGATGGAGATGA	0.627		NaN											0	0	0	0.01441	0	102	100				
NRG1	3084	broad.mit.edu	37	8	31498210	31498210	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:31498210A>G	uc003xip.2	+	1	943	c.710A>G	c.(709-711)AAG>AGG	p.K237R		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	22	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGGAACCTCAAGAAGGAGGTC	0.701		NaN											0	0	0	0.006214	0	7	37				
KCNU1	157855	broad.mit.edu	37	8	36644882	36644882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:36644882G>A	uc010lvw.2	+	2	341	c.254G>A	c.(253-255)GGA>GAA	p.G85E	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	85	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACTTCCAGGGACAATTTCGT	0.423		NaN											0	0	0	0.013537	0	13	12				
ANK1	286	broad.mit.edu	37	8	41519393	41519393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:41519393C>G	uc003xok.2	-	41	5629	c.5545G>C	c.(5545-5547)GTG>CTG	p.V1849L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Splice_Site_p.E1002_splice|ANK1_uc003xoi.2_Splice_Site_p.E1848_splice|ANK1_uc003xoj.2_Splice_Site_p.E1848_splice|ANK1_uc003xol.2_Missense_Mutation_p.V1687L|ANK1_uc003xom.2_Splice_Site_p.E1889_splice|ANK1_uc011lcl.1_Splice_Site_p.E123_splice|ANK1_uc003xod.2_Splice_Site_p.E123_splice|ANK1_uc003xoc.2_Missense_Mutation_p.V124L|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1849	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTACAGTCACCTCCTCGTGC	0.582		NaN											0	0	0	0.011902	0	46	385				
KIAA0146	23514	broad.mit.edu	37	8	48626144	48626144	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48626144C>A	uc003xqd.2	+	16	2291	c.2282C>A	c.(2281-2283)CCG>CAG	p.P761Q	KIAA0146_uc011ldc.1_Missense_Mutation_p.P691Q|KIAA0146_uc011ldd.1_Missense_Mutation_p.P701Q|KIAA0146_uc003xqe.2_Missense_Mutation_p.P236Q|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Missense_Mutation_p.P450Q|KIAA0146_uc011ldf.1_Missense_Mutation_p.P266Q|KIAA0146_uc011ldg.1_Missense_Mutation_p.P251Q|KIAA0146_uc003xqg.1_RNA	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	761											0		Lung NSC(58;0.175)				CTGCCTGGCCCGGTGATGCTC	0.527		NaN											1	0	4.7796e-09	0.004656	4.9538e-09	24	100				
PRKDC	5591	broad.mit.edu	37	8	48719847	48719847	+	Missense_Mutation	SNP	G	G	C	rs150449253	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48719847G>C	uc003xqi.2	-	70	9655	c.9598C>G	c.(9598-9600)CTT>GTT	p.L3200V	PRKDC_uc003xqj.2_Missense_Mutation_p.L3200V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3200	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTTCTGGAAGAGGGGTAAGC	0.438		NaN						NHEJ					0	0	0	0.004656	0	27	130				
PRKDC	5591	broad.mit.edu	37	8	48815271	48815271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48815271G>C	uc003xqi.2	-	27	3184	c.3127C>G	c.(3127-3129)CAA>GAA	p.Q1043E	PRKDC_uc003xqj.2_Missense_Mutation_p.Q1043E|PRKDC_uc011ldh.1_Missense_Mutation_p.Q1043E	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1043					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTGTTATTTGCTTAATGGAC	0.423		NaN						NHEJ					0	0	0	0.001984	0	7	54				
YTHDF3	253943	broad.mit.edu	37	8	64099876	64099876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:64099876C>G	uc003xuy.2	+	5	1623	c.1307C>G	c.(1306-1308)TCT>TGT	p.S436C	YTHDF3_uc010lys.2_Missense_Mutation_p.S380C|YTHDF3_uc003xuz.2_Missense_Mutation_p.S380C|YTHDF3_uc003xva.2_Missense_Mutation_p.S380C|YTHDF3_uc011len.1_Missense_Mutation_p.S380C	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	436	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTAAATACTCTATCTGGTGT	0.398		NaN											0	0	0	0.004656	0	25	88				
PREX2	80243	broad.mit.edu	37	8	68931794	68931794	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:68931794C>G	uc003xxv.1	+	3	251	c.224C>G	c.(223-225)TCA>TGA	p.S75*	PREX2_uc003xxu.1_Nonsense_Mutation_p.S75*|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	75	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATGTTGTTCTCAAACATTGAA	0.363		NaN											0	0	0	0.016522	0	23	12				
TRPA1	8989	broad.mit.edu	37	8	72973899	72973899	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:72973899A>G	uc003xza.2	-	7	1080	c.905T>C	c.(904-906)GTT>GCT	p.V302A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	302	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GGTTGTGTTAACAATATCCAC	0.428		NaN											0	0	0	0.015359	0	31	107				
ZFHX4	79776	broad.mit.edu	37	8	77616680	77616680	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:77616680A>C	uc003yav.2	+	2	744	c.357A>C	c.(355-357)TTA>TTC	p.L119F	ZFHX4_uc003yat.1_Missense_Mutation_p.L119F|ZFHX4_uc003yau.1_Missense_Mutation_p.L119F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L119F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCGAGTTAGAGGACAGTG	0.483		NaN								HNSCC(33;0.089)			0	0	0	0.003954	0	25	177				
PKHD1L1	93035	broad.mit.edu	37	8	110477234	110477234	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:110477234G>T	uc003yne.2	+	49	8277	c.8173G>T	c.(8173-8175)GCA>TCA	p.A2725S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2725	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTGCACAGCAAAAGGCCT	0.468		NaN								HNSCC(38;0.096)			1	0	1.57351e-24	0.003755	1.68063e-24	36	149				
LRRC6	23639	broad.mit.edu	37	8	133623595	133623595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133623595G>C	uc003ytk.2	-	9	1063	c.989C>G	c.(988-990)TCT>TGT	p.S330C	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	330	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCGATTAAAGAGGTATCCAT	0.313		NaN											0	0	0	0.003954	0	24	26				
PHF20L1	51105	broad.mit.edu	37	8	133844494	133844494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133844494G>T	uc003ytt.2	+	15	2084	c.1759G>T	c.(1759-1761)GAA>TAA	p.E587*	PHF20L1_uc011lja.1_Nonsense_Mutation_p.E561*	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	587							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTCAGACTATGAAGACAGTTC	0.368		NaN											1	0	1.45978e-39	0.01441	1.58143e-39	70	65				
PTPRD	5789	broad.mit.edu	37	9	8521491	8521491	+	Silent	SNP	T	T	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:8521491T>A	uc003zkk.2	-	19	1458	c.747A>T	c.(745-747)CCA>CCT	p.P249P	PTPRD_uc003zkp.2_Silent_p.P249P|PTPRD_uc003zkq.2_Silent_p.P249P|PTPRD_uc003zkr.2_Silent_p.P243P|PTPRD_uc003zks.2_Silent_p.P239P|PTPRD_uc003zkl.2_Silent_p.P249P|PTPRD_uc003zkm.2_Silent_p.P236P|PTPRD_uc003zkn.2_Silent_p.P249P|PTPRD_uc003zko.2_Silent_p.P246P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	249	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCTTCCGCCTGGCATGATTT	0.468		NaN								TSP Lung(15;0.13)			0	0	0	0.012319	0	22	61				
RPS6	6194	broad.mit.edu	37	9	19376356	19376356	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:19376356C>A	uc003znv.1	-	6	727	c.685G>T	c.(685-687)GCG>TCG	p.A229S	RPS6_uc003znu.1_Missense_Mutation_p.A198S	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	229					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CGTCTCTTCGCAATTTGTTCC	0.413		NaN											1	0	1.62565e-12	0.012213	1.70039e-12	32	119				
TEK	7010	broad.mit.edu	37	9	27169599	27169599	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:27169599C>T	uc003zqi.3	+	4	1042	c.600C>T	c.(598-600)ACC>ACT	p.T200T	TEK_uc010mjc.1_Silent_p.T53T|TEK_uc011lnn.1_Silent_p.T200T|TEK_uc011lno.1_Silent_p.T200T|TEK_uc011lnp.1_Silent_p.T96T|TEK_uc003zqj.1_Silent_p.T177T	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	200	Extracellular (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACCTCTTCACCTCGGCCTTCA	0.448		NaN											0	0	0	0.00499	0	18	82				
ZBTB5	9925	broad.mit.edu	37	9	37441201	37441201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:37441201G>C	uc003zzx.2	-	2	1548	c.1348C>G	c.(1348-1350)CCA>GCA	p.P450A		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCAGCCTCTGGACTCAACAAA	0.517		NaN											0	0	0	0.007291	0	28	52				
TRPM6	140803	broad.mit.edu	37	9	77376977	77376977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:77376977G>A	uc004ajl.1	-	26	4848	c.4610C>T	c.(4609-4611)GCT>GTT	p.A1537V	TRPM6_uc004ajk.1_Missense_Mutation_p.A1532V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.A493V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1537	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ATGACTCCTAGCGAAGGGCCT	0.413		NaN											0	0	0	0.00632	0	28	15				
C9orf64	84267	broad.mit.edu	37	9	86571141	86571141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:86571141C>G	uc004anb.2	-	1	523	c.275G>C	c.(274-276)AGA>ACA	p.R92T	C9orf64_uc004anc.2_5'UTR	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	92											0						TGTTTTCCCTCTGTACCTCAC	0.592		NaN											0	0	0	0.01441	0	84	59				
FAM22G	441457	broad.mit.edu	37	9	99697725	99697725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:99697725G>A	uc004awq.1	+	3	1544	c.829G>A	c.(829-831)GAG>AAG	p.E277K	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	277										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GATTTTCTACGAGATGGCGGC	0.652		NaN											0	0	0	0.005524	0	40	73				
BAAT	570	broad.mit.edu	37	9	104130470	104130470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:104130470G>A	uc010mtd.2	-	3	710	c.601C>T	c.(601-603)CGC>TGC	p.R201C	BAAT_uc004bbd.3_Missense_Mutation_p.R201C	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	201					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTGGTTTGCGGGGCAGGTCT	0.493		NaN											0	0	0	0.008871	0	17	56				
OR1J1	347168	broad.mit.edu	37	9	125239256	125239256	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:125239256A>G	uc011lyu.1	-	1	950	c.950T>C	c.(949-951)CTC>CCC	p.L317P	OR1J2_uc004bmj.1_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J,	317	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						caaagtgttgagattacaggc	0.124		NaN											0	0	0	0.001984	0	6	50				
SPTAN1	6709	broad.mit.edu	37	9	131346653	131346653	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131346653C>T	uc004bvl.3	+	17	2399	c.2286C>T	c.(2284-2286)CTC>CTT	p.L762L	SPTAN1_uc011mbg.1_Silent_p.L762L|SPTAN1_uc011mbh.1_Silent_p.L774L|SPTAN1_uc004bvm.3_Silent_p.L762L|SPTAN1_uc004bvn.3_Silent_p.L762L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	762	Spectrin 8.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGGAAGCCCTCGTGGCTCGCT	0.547		NaN											0	0	0	0.005443	0	25	9				
SPTAN1	6709	broad.mit.edu	37	9	131347041	131347041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131347041C>T	uc004bvl.3	+	18	2592	c.2479C>T	c.(2479-2481)CAA>TAA	p.Q827*	SPTAN1_uc011mbg.1_Nonsense_Mutation_p.Q827*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.Q839*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.Q827*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.Q827*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	827	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AAAGAAACATCAAGCCTTACA	0.448		NaN											0	0	0	0.01441	0	59	25				
SEC16A	9919	broad.mit.edu	37	9	139368716	139368716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:139368716G>T	uc004chx.2	-	3	3661	c.3352C>A	c.(3352-3354)CAG>AAG	p.Q1118K	SEC16A_uc004chv.3_Missense_Mutation_p.Q508K|SEC16A_uc004chw.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbn.2_Missense_Mutation_p.Q1118K|SEC16A_uc010nbo.1_Missense_Mutation_p.Q1118K	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	940	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTAGAGGACTGAGGAGGCCGA	0.667		NaN											1	0	4.31634e-10	0.012213	4.49413e-10	26	20				
DDX53	168400	broad.mit.edu	37	X	23019522	23019522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:23019522G>C	uc004daj.2	+	1	1436	c.1348G>C	c.(1348-1350)GAA>CAA	p.E450Q		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	450	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						TGTTACCACAGAAAAAGAAAA	0.353		NaN											0	0	0	0.001168	0	6	75				
FAM47A	158724	broad.mit.edu	37	X	34148659	34148659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:34148659G>A	uc004ddg.2	-	1	1770	c.1737C>T	c.(1735-1737)TAC>TAT	p.Y579Y		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	579										ovary(4)|central_nervous_system(1)	5						GTTCTTTTATGTAGGATGCTC	0.483		NaN											0	0	0	0.00874	0	43	10				
RPGR	6103	broad.mit.edu	37	X	38147249	38147249	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:38147249C>G	uc004ded.1	-	14	1786	c.1618G>C	c.(1618-1620)GAA>CAA	p.E540Q	RPGR_uc004deb.2_Missense_Mutation_p.E540Q|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	540	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCATCGTTTTCAGTAAGAGCT	0.358		NaN											0	0	0	0.01441	0	44	15				
MED14	9282	broad.mit.edu	37	X	40540142	40540142	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:40540142C>A	uc004dex.3	-	20	2618	c.2478G>T	c.(2476-2478)TCG>TCT	p.S826S		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	826					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						TTTGATGGATCGAATTCCATT	0.328		NaN											1	0	6.4e-05	0.004672	6.5e-05	3	14				
HUWE1	10075	broad.mit.edu	37	X	53578103	53578103	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578103C>T	uc004dsp.2	-	65	9546	c.9144G>A	c.(9142-9144)CAG>CAA	p.Q3048Q	HUWE1_uc004dsn.2_Silent_p.Q1856Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3048					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCTGGCATTCTGTGCTAGTT	0.562		NaN											0	0	0	0.010771	0	45	15				
HUWE1	10075	broad.mit.edu	37	X	53578136	53578136	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578136C>G	uc004dsp.2	-	65	9513	c.9111G>C	c.(9109-9111)CAG>CAC	p.Q3037H	HUWE1_uc004dsn.2_Missense_Mutation_p.Q1845H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3037					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GCTCAGCTCTCTGCTGTGCCA	0.577		NaN											0	0	0	0.005524	0	39	15				
TRO	7216	broad.mit.edu	37	X	54957054	54957054	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:54957054C>T	uc004dtq.2	+	12	4004	c.3897C>T	c.(3895-3897)TTC>TTT	p.F1299F	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.F830F|TRO_uc004dtw.2_Silent_p.F902F|TRO_uc004dtx.2_Silent_p.F682F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1299	49.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATGCTAGTTTCGGCAGCACAC	0.582		NaN											0	0	0	0.01441	0	68	18				
UBQLN2	29978	broad.mit.edu	37	X	56590882	56590882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:56590882G>C	uc004dus.2	+	1	811	c.576G>C	c.(574-576)CAG>CAC	p.Q192H	UBQLN2_uc011moq.1_Missense_Mutation_p.Q192H	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	192						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						CCTTTGTTCAGAGCATGCTTT	0.478		NaN											0	0	0	0.01441	0	59	22				
CSTF2	1478	broad.mit.edu	37	X	100086569	100086569	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:100086569C>A	uc004egh.2	+	9	1013	c.955C>A	c.(955-957)CGA>AGA	p.R319R	CSTF2_uc010nnd.2_Silent_p.R339R|CSTF2_uc004egi.2_Silent_p.R302R	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	319	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						CCCAACCCCTCGAGGCTTGTT	0.532		NaN											1	0	9.82936e-54	0.01441	1.06994e-53	95	14				
ODZ1	10178	broad.mit.edu	37	X	123516590	123516590	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:123516590A>G	uc004euj.2	-	30	7413	c.7349T>C	c.(7348-7350)TTA>TCA	p.L2450S	ODZ1_uc011muj.1_Missense_Mutation_p.L2456S|ODZ1_uc010nqy.2_Missense_Mutation_p.L2457S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2450	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TAAATTTTCTAATTCAGGTTT	0.353		NaN											0	0	0	0.01441	0	100	24				
MAGEA4	4103	broad.mit.edu	37	X	151092370	151092370	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:151092370C>T	uc004fez.2	+	3	390	c.234C>T	c.(232-234)TTC>TTT	p.F78F	MAGEA4_uc004ffa.2_Silent_p.F78F|MAGEA4_uc004ffb.2_Silent_p.F78F|MAGEA4_uc004ffc.2_Silent_p.F78F|MAGEA4_uc004ffd.2_Silent_p.F78F	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	78							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTTCACTTGCTGGA	0.602		NaN											0	0	0	0.01441	0	90	25				
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:153880627G>A	uc004fmi.1	-	2	601	c.548C>T	c.(547-549)CCA>CTA	p.P183L	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	183	Poly-Pro.					centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCGGGCCTGGTGTACCAGG	0.607		NaN											0	0	0	0.01441	0	117	37				
C1orf86	199990	broad.mit.edu	37	1	2125504	2125504	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:2125504A>T	uc001aiy.2	-	2	157	c.131T>A	c.(130-132)CTG>CAG	p.L44Q	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	44											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CACCGTGCGCAGTAGCTCGGC	0.672		NaN											0	0	0	0.000602	0	5	27				
UBE4B	10277	broad.mit.edu	37	1	10166548	10166548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:10166548C>T	uc001aqs.3	+	7	1816	c.1103C>T	c.(1102-1104)TCC>TTC	p.S368F	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	368					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCAGCAGTTCCAGACAGAGG	0.652		NaN											0	0	0	0.001368	0	10	43				
EPHA2	1969	broad.mit.edu	37	1	16477395	16477395	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:16477395T>C	uc001aya.1	-	2	286	c.149A>G	c.(148-150)AAA>AGA	p.K50R	EPHA2_uc010oca.1_Missense_Mutation_p.K50R	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	50	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACATACCCCTTTGCCATACGG	0.473		NaN											0	0	0	0.010504	0	17	130				
PADI1	29943	broad.mit.edu	37	1	17552363	17552363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:17552363C>T	uc001bah.1	+	5	558	c.466C>T	c.(466-468)CGG>TGG	p.R156W		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	156					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAACTGTGACCGGGACAATCA	0.597		NaN											0	0	0	0.007413	0	20	162				
UBR4	23352	broad.mit.edu	37	1	19449357	19449357	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:19449357G>C	uc001bbi.2	-	66	9790	c.9786C>G	c.(9784-9786)TCC>TCG	p.S3262S	UBR4_uc001bbk.1_Silent_p.S909S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3262					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTGCAAGGCGGAGCCTGAGC	0.562		NaN											0	0	0	0.002299	0	22	128				
PLA2G2E	30814	broad.mit.edu	37	1	20248869	20248869	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:20248869C>G	uc001bct.1	-	3	266	c.208G>C	c.(208-210)GGG>CGG	p.G70R		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	70					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGACGCCCGTAGCAGCAG	0.612		NaN											0	0	0	0.001168	0	5	54				
EPHA8	2046	broad.mit.edu	37	1	22903038	22903038	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:22903038G>A	uc001bfx.1	+	3	613	c.488G>A	c.(487-489)CGT>CAT	p.R163H	EPHA8_uc001bfw.2_Missense_Mutation_p.R163H	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	163	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTGTGCGGCGTCTCAAGCTC	0.622		NaN											0	0	0	0.004482	0	9	87				
ASAP3	55616	broad.mit.edu	37	1	23763959	23763959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:23763959C>T	uc001bha.2	-	13	1233	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.R239Q|ASAP3_uc010oea.1_Missense_Mutation_p.R361Q|ASAP3_uc001bhb.2_5'UTR	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	370	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GTGGTACGTCCGGTTGTCTGT	0.682		NaN											0	0	0	0.001984	0	7	92				
MYOM3	127294	broad.mit.edu	37	1	24392387	24392387	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:24392387A>C	uc001bin.3	-	29	3691	c.3528T>G	c.(3526-3528)ATT>ATG	p.I1176M	MYOM3_uc001bil.3_Missense_Mutation_p.I69M|MYOM3_uc001bim.3_Missense_Mutation_p.I833M|MYOM3_uc001bio.2_Missense_Mutation_p.I1176M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1176	Ig-like C2-type 3.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGCCTCTTCAATGCAGAGAA	0.547		NaN											0	0	0	0.00361	0	238	61				
PTP4A2	8073	broad.mit.edu	37	1	32381498	32381498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:32381498G>C	uc001bty.1	-	3	1181	c.187C>G	c.(187-189)CTA>GTA	p.L63V	PTP4A2_uc010ogs.1_Intron|PTP4A2_uc001btz.1_Missense_Mutation_p.L63V	NM_080391	NP_536316	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	63						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity				0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACACTCACTAGAACGTGGATT	0.254		NaN											0	0	0	0.010729	0	12	38				
CSF3R	1441	broad.mit.edu	37	1	36941192	36941192	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:36941192C>T	uc001caw.1	-	4	325	c.147G>A	c.(145-147)AAG>AAA	p.K49K	CSF3R_uc001cav.1_Silent_p.K49K|CSF3R_uc001cax.1_Silent_p.K49K|CSF3R_uc001cay.1_Silent_p.K49K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	49	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCAGTTCTGCTTGATGATGC	0.622		NaN											0	0	0	0.00278	0	20	17				
MPL	4352	broad.mit.edu	37	1	43804317	43804317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43804317C>T	uc001ciw.2	+	3	362	c.317C>T	c.(316-318)CCG>CTG	p.P106L	MPL_uc001civ.2_Missense_Mutation_p.P106L|MPL_uc009vwr.2_Missense_Mutation_p.P99L	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	106	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTTCTTTCCGCTGCACCTC	0.562		NaN	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						0	0	0	0.007835	0	42	41				
HYI	81888	broad.mit.edu	37	1	43917920	43917920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43917920C>T	uc001cjo.2	-	3	552	c.382G>A	c.(382-384)GTT>ATT	p.V128I	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Missense_Mutation_p.V55I|HYI_uc001cjn.2_Missense_Mutation_p.V128I|HYI_uc001cjp.2_Missense_Mutation_p.V55I	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	128							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGAAAAACGGCCTCCATC	0.562		NaN											0	0	0	0.004672	0	3	19				
ZFYVE9	9372	broad.mit.edu	37	1	52704303	52704303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:52704303C>G	uc001cto.2	+	4	1386	c.1214C>G	c.(1213-1215)ACT>AGT	p.T405S	ZFYVE9_uc001ctn.2_Missense_Mutation_p.T405S|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T405S	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	405					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TGGAAGTTGACTAAACTAAAT	0.373		NaN											0	0	0	0.010818	0	34	85				
LPAR3	23566	broad.mit.edu	37	1	85331472	85331472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:85331472C>T	uc001dkl.2	-	1	371	c.332G>A	c.(331-333)AGT>AAT	p.S111N	LPAR3_uc009wcj.1_Missense_Mutation_p.S111N	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	111	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AGTCAAGCTACTGTCCAGAAG	0.498		NaN											0	0	0	0.00361	0	114	104				
ARHGAP29	9411	broad.mit.edu	37	1	94650459	94650459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:94650459G>T	uc001dqj.3	-	18	2447	c.2078C>A	c.(2077-2079)TCA>TAA	p.S693*	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Nonsense_Mutation_p.S259*	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	693	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCAATCTCTGAGGCACATAT	0.333		NaN											1	0	1.45105e-14	0.006122	1.62725e-14	18	71				
KCNA2	3737	broad.mit.edu	37	1	111146201	111146201	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:111146201T>A	uc001dzu.2	-	2	1700	c.1204A>T	c.(1204-1206)ATT>TTT	p.I402F	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.I402F	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	402	Helical; Name=Segment S6; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTAAGGCAATAGTTAACACA	0.498		NaN											0	0	0	0.006999	0	41	46				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999502	112999502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:112999502G>A	uc001ebx.2	+	6	1616	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	CTTNBP2NL_uc001ebz.2_RNA	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	463						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCAGCTCGCCACAAATTT	0.542		NaN											0	0	0	0.00623	0	40	120				
HRNR	388697	broad.mit.edu	37	1	152187692	152187692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:152187692G>A	uc001ezt.1	-	3	6489	c.6413C>T	c.(6412-6414)TCT>TTT	p.S2138F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2138					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGATCTAGAGCCGTGTTG	0.572		NaN											0	0	0	0.002836	0	26	673				
ATP8B2	57198	broad.mit.edu	37	1	154321348	154321348	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:154321348G>C	uc001fex.2	+	28	3426	c.3426G>C	c.(3424-3426)CAG>CAC	p.Q1142H		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1128	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAAGAAGCAGAAGGCCCAGC	0.637		NaN											0	0	0	0.00245	0	11	7				
CCDC19	25790	broad.mit.edu	37	1	159842832	159842832	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:159842832C>G	uc001fui.2	-	11	1497	c.1479G>C	c.(1477-1479)CGG>CGC	p.R493R	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.R408R|CCDC19_uc001ful.2_Silent_p.R408R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	493	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGGTGGCAATCCGGTTCTGCA	0.592		NaN											0	0	0	0.00361	0	56	184				
VANGL2	57216	broad.mit.edu	37	1	160389046	160389046	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160389046C>A	uc001fwb.1	+	5	746	c.447C>A	c.(445-447)TTC>TTA	p.F149L	VANGL2_uc001fwc.1_Missense_Mutation_p.F149L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	149	Helical; Name=2; (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGCCTCTTCATCTCTGTCG	0.662		NaN											1	0	3.32936e-07	0.006122	3.51993e-07	18	171				
CD244	51744	broad.mit.edu	37	1	160801216	160801216	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160801216A>G	uc009wtq.2	-	9	1212	c.1034T>C	c.(1033-1035)ATT>ACT	p.I345T	CD244_uc001fxa.2_Missense_Mutation_p.I340T|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.I248T	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	345	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTTTCCAATCTGCAAAAG	0.328		NaN											0	0	0	0.007291	0	27	306				
SELL	6402	broad.mit.edu	37	1	169677940	169677940	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:169677940G>A	uc001ggk.2	-	3	288	c.90C>T	c.(88-90)TTC>TTT	p.F30F	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_5'UTR|SELL_uc001ggl.1_Silent_p.F43F	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	30					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					GATGTGCCAGGAAATCTGCAA	0.294		NaN											0	0	0	0.009096	0	4	4				
ATP2B4	493	broad.mit.edu	37	1	203667472	203667472	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:203667472A>G	uc001gzw.2	+	3	1265	c.381A>G	c.(379-381)GAA>GAG	p.E127E	ATP2B4_uc001gzv.2_Silent_p.E127E|ATP2B4_uc009xaq.2_Silent_p.E127E	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	127	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCTGGTGAAGAAAATGAAC	0.483		NaN											0	0	0	0.012319	0	23	65				
PIGR	5284	broad.mit.edu	37	1	207109079	207109079	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:207109079T>C	uc001hez.2	-	5	1314	c.1130A>G	c.(1129-1131)GAA>GGA	p.E377G	PIGR_uc009xbz.2_Missense_Mutation_p.E377G	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	377	Ig-like V-type 4.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCTTTTGCTTTCCTTACGGTT	0.622		NaN									OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00278	0	21	4				
ACBD7	414149	broad.mit.edu	37	10	15058950	15058950	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:15058950C>T	uc010qby.1	-	7	550	c.241G>A	c.(241-243)GGC>AGC	p.G81S				Q8N6N7	ACBD7_HUMAN	SubName: Full=cDNA FLJ52263, highly similar to Artemis protein (EC 3.1.-.-);	Error:Variant_position_missing_in_Q8N6N7_after_alignment							fatty-acyl-CoA binding				0						TATTCATAGCCATAAGCCGCT	0.373		NaN											0	0	0	0.007291	0	30	117				
ABI1	10006	broad.mit.edu	37	10	27112231	27112231	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:27112231T>C	uc001isx.2	-	2	288	c.121A>G	c.(121-123)ACA>GCA	p.T41A	ABI1_uc001ite.2_Missense_Mutation_p.T41A|ABI1_uc010qdh.1_Missense_Mutation_p.T41A|ABI1_uc010qdi.1_Missense_Mutation_p.T41A|ABI1_uc001isy.2_Missense_Mutation_p.T41A|ABI1_uc001ita.2_Missense_Mutation_p.T41A|ABI1_uc001isz.2_Missense_Mutation_p.T41A|ABI1_uc001itb.2_Missense_Mutation_p.T58A|ABI1_uc001itc.2_Missense_Mutation_p.T41A|ABI1_uc010qdj.1_Missense_Mutation_p.T41A|ABI1_uc001itd.2_Missense_Mutation_p.T41A|ABI1_uc010qdk.1_Missense_Mutation_p.T41A	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	41	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						CTCTTGTCTGTAGCCTGAAAT	0.303		NaN											0	0	0	0.006122	0	18	47				
SYNPO2L	79933	broad.mit.edu	37	10	75406722	75406722	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:75406722C>T	uc001jut.3	-	4	2840	c.2688G>A	c.(2686-2688)CAG>CAA	p.Q896Q	SYNPO2L_uc001jus.3_Silent_p.Q672Q	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	896	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CTGCAGTGGGCTGGGGTGCCG	0.627		NaN											0	0	0	0.010818	0	31	13				
FAM178A	55719	broad.mit.edu	37	10	102684688	102684688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:102684688G>A	uc001krt.3	+	5	2472	c.1930G>A	c.(1930-1932)GCT>ACT	p.A644T	FAM178A_uc001krr.1_Missense_Mutation_p.A644T|FAM178A_uc001krs.2_Missense_Mutation_p.A644T|FAM178A_uc001kru.1_Missense_Mutation_p.A579T	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	644											0						AAAGCCTCCTGCTCTTTCCAA	0.403		NaN											0	0	0	0.00361	0	89	37				
CNNM2	54805	broad.mit.edu	37	10	104679190	104679190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:104679190C>T	uc001kwm.2	+	1	1077	c.953C>T	c.(952-954)TCA>TTA	p.S318L	CNNM2_uc001kwn.2_Missense_Mutation_p.S318L|CNNM2_uc001kwl.2_Missense_Mutation_p.S318L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	318	DUF21.|Helical; (Potential).				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGCTGTGCTCACTGCTGCTG	0.632		NaN											0	0	0	0.003163	0	15	9				
EIF3A	8661	broad.mit.edu	37	10	120817659	120817659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:120817659G>A	uc001ldu.2	-	12	1932	c.1786C>T	c.(1786-1788)CAG>TAG	p.Q596*	EIF3A_uc010qsu.1_Nonsense_Mutation_p.Q562*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	596	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCTTCCCTCTGTTCCAATTCT	0.512		NaN											0	0	0	0.012213	0	33	99				
C10orf90	118611	broad.mit.edu	37	10	128192613	128192613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:128192613C>T	uc001ljq.2	-	3	1277	c.1156G>A	c.(1156-1158)GGG>AGG	p.G386R	C10orf90_uc001ljp.2_Missense_Mutation_p.G339R|C10orf90_uc010qum.1_Missense_Mutation_p.G483R|C10orf90_uc009yao.2_Missense_Mutation_p.G483R|C10orf90_uc001ljs.1_Missense_Mutation_p.G339R	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	386										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCTTTTCCCCTTTTCTTACA	0.502		NaN									OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00874	0	43	14				
MGMT	4255	broad.mit.edu	37	10	131565073	131565073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:131565073C>G	uc001lkh.2	+	5	555	c.529C>G	c.(529-531)CAC>GAC	p.H177D		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	146										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CATCCCGTGCCACAGAGTGGT	0.632		NaN						Direct_reversal_of_damage					0	0	0	0.000602	0	5	4				
DPYSL4	10570	broad.mit.edu	37	10	134018389	134018389	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:134018389C>T	uc009ybb.2	+	14	1828	c.1674C>T	c.(1672-1674)ATC>ATT	p.I558I		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	558					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CACAGAAGATCATGGCACCAC	0.672		NaN											0	0	0	0.002836	0	31	139				
KNDC1	85442	broad.mit.edu	37	10	135011911	135011911	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:135011911C>T	uc001llz.1	+	13	1978	c.1977C>T	c.(1975-1977)TGC>TGT	p.C659C	KNDC1_uc001lma.1_Silent_p.C594C|KNDC1_uc001lmb.1_Silent_p.C71C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	659					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCACCCCTGCGGTGAAGAAG	0.682		NaN											0	0	0	0.009096	0	4	5				
OR56B4	196335	broad.mit.edu	37	11	6129404	6129404	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:6129404C>T	uc010qzx.1	+	1	396	c.396C>T	c.(394-396)ATC>ATT	p.I132I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAGCCATCTGTCGCCCTC	0.498		NaN											0	0	0	0.00361	0	69	25				
PIK3C2A	5286	broad.mit.edu	37	11	17115836	17115836	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:17115836T>C	uc001mmq.3	-	27	4489	c.4423A>G	c.(4423-4425)ATT>GTT	p.I1475V	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.I1095V|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1475	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GGAAAAATAATACTGAGCTTA	0.348		NaN											0	0	0	0.002299	0	22	9				
MRGPRX1	259249	broad.mit.edu	37	11	18955715	18955715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:18955715G>A	uc001mpg.2	-	1	835	c.617C>T	c.(616-618)TCC>TTC	p.S206F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	206	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						TATCTTCCGGGATCCACAGAG	0.502		NaN											0	0	0	0.001368	0	11	52				
CAT	847	broad.mit.edu	37	11	34489896	34489896	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:34489896T>C	uc001mvm.2	+	11	1471	c.1388T>C	c.(1387-1389)ATT>ACT	p.I463T	CAT_uc001mvn.2_Missense_Mutation_p.I72T	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	463					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGTGAGAACATTGCCGGCCAC	0.488		NaN											0	0	0	0.00361	0	82	20				
OR8H2	390151	broad.mit.edu	37	11	55872916	55872916	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:55872916C>A	uc010riy.1	+	1	398	c.398C>A	c.(397-399)ACA>AAA	p.T133K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					CTACACTACACAGTTATTATG	0.463		NaN								HNSCC(53;0.14)			1	0	1.02165e-56	0.00361	1.16231e-56	140	78				
ODZ4	26011	broad.mit.edu	37	11	78433795	78433795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:78433795C>T	uc001ozl.3	-	24	4181	c.3718G>A	c.(3718-3720)GAC>AAC	p.D1240N		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1240	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGGCTCCCGTCAGAGCCACAG	0.562		NaN											0	0	0	0.00333	0	24	57				
MMP20	9313	broad.mit.edu	37	11	102495964	102495964	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:102495964G>C	uc001phc.2	-	1	100	c.87C>G	c.(85-87)GCC>GCG	p.A29A		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	29					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCTGGGGGAGGCTGCAACTA	0.537		NaN											0	0	0	0.00361	0	47	20				
DCPS	28960	broad.mit.edu	37	11	126176504	126176504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:126176504G>A	uc001qdp.2	+	2	570	c.241G>A	c.(241-243)GTT>ATT	p.V81I		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	81					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AGAGGATGCCGTTGTGATCCT	0.572		NaN											0	0	0	0.001855	0	13	6				
NCAPD2	9918	broad.mit.edu	37	12	6623746	6623746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:6623746A>G	uc001qoo.2	+	8	878	c.832A>G	c.(832-834)ATT>GTT	p.I278V	NCAPD2_uc009zen.1_Missense_Mutation_p.I150V|NCAPD2_uc010sfd.1_Missense_Mutation_p.I233V	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	278	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						AGTGGGAGAGATTGTAAGGTG	0.443		NaN											0	0	0	0.002836	0	34	33				
RECQL	5965	broad.mit.edu	37	12	21627868	21627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:21627868C>T	uc001rex.2	-	12	1610	c.1262G>A	c.(1261-1263)GGA>GAA	p.G421E	RECQL_uc001rey.2_Missense_Mutation_p.G421E	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	421	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						GAATATATCTCCAAAGCCGTA	0.373		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.00361	0	107	54				
ABCC9	10060	broad.mit.edu	37	12	22005388	22005388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:22005388C>G	uc001rfi.1	-	21	2577	c.2557G>C	c.(2557-2559)GAG>CAG	p.E853Q	ABCC9_uc001rfh.2_Missense_Mutation_p.E853Q|ABCC9_uc001rfj.1_Missense_Mutation_p.E817Q	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	853	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATCCCCTCCTGCATTAAA	0.408		NaN											0	0	0	0.004007	0	16	205				
DENND5B	160518	broad.mit.edu	37	12	31648850	31648850	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:31648850T>G	uc001rki.1	-	2	317	c.131A>C	c.(130-132)GAA>GCA	p.E44A	DENND5B_uc001rkh.1_Missense_Mutation_p.E79A|DENND5B_uc001rkj.2_Missense_Mutation_p.E66A|DENND5B_uc001rkk.1_5'UTR	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	44						integral to membrane				ovary(1)|central_nervous_system(1)	2						GTCAAAATTTTCGCCTACAAC	0.338		NaN											0	0	0	0.006122	0	19	63				
LARP4	113251	broad.mit.edu	37	12	50829280	50829280	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:50829280G>T	uc001rwp.1	+	5	552	c.408G>T	c.(406-408)TTG>TTT	p.L136F	LARP4_uc001rwo.1_Missense_Mutation_p.L142F|LARP4_uc001rwq.1_Missense_Mutation_p.L136F|LARP4_uc001rwr.1_Missense_Mutation_p.L136F|LARP4_uc001rws.1_Missense_Mutation_p.L135F|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.L136F|LARP4_uc001rwn.2_Missense_Mutation_p.L66F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	136	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(1)	1						GAGAAAATTTGTCAAAGGATC	0.313		NaN											1	0	1.42536e-11	0.004656	1.5649e-11	25	111				
SCN8A	6334	broad.mit.edu	37	12	52164425	52164425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:52164425G>C	uc001ryw.2	+	19	3781	c.3603G>C	c.(3601-3603)GAG>GAC	p.E1201D	SCN8A_uc010snl.1_Missense_Mutation_p.E1066D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1201	III.|Helical; Name=S1 of repeat III; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTGGTTTGAGACCTTCATCA	0.557		NaN											0	0	0	0.008291	0	10	133				
ESPL1	9700	broad.mit.edu	37	12	53677876	53677876	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:53677876G>A	uc001sck.2	+	17	3203	c.3112G>A	c.(3112-3114)GAG>AAG	p.E1038K	ESPL1_uc001scj.2_Missense_Mutation_p.E713K|ESPL1_uc010soe.1_Missense_Mutation_p.E249K	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1038					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGGCGAGCTGGAGCTGGCCCG	0.532		NaN											0	0	0	0.00361	0	79	173				
OR6C70	390327	broad.mit.edu	37	12	55863095	55863095	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:55863095A>G	uc010spn.1	-	1	828	c.828T>C	c.(826-828)AAT>AAC	p.N276N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CAACTGAAGTATTGAGCACAG	0.358		NaN											0	0	0	0.003163	0	16	179				
ZFC3H1	196441	broad.mit.edu	37	12	72057170	72057170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72057170G>A	uc001swo.2	-	1	580	c.221C>T	c.(220-222)TCG>TTG	p.S74L	ZFC3H1_uc010sts.1_Missense_Mutation_p.S74L|ZFC3H1_uc001swp.2_Missense_Mutation_p.S74L|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	74	Ser-rich.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GGACGATGACGAGGAAGAGCC	0.677		NaN									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	14	289				
TRHDE	29953	broad.mit.edu	37	12	72680477	72680477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680477C>T	uc001sxa.2	+	2	826	c.796C>T	c.(796-798)CAG>TAG	p.Q266*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	266	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TGGTGTTACTCAGTTTTCGCC	0.363		NaN											0	0	0	0.00361	0	82	441				
TRHDE	29953	broad.mit.edu	37	12	72680639	72680639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680639C>T	uc001sxa.2	+	2	988	c.958C>T	c.(958-960)CAC>TAC	p.H320Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	320	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGTTACGGATCACTTTTCACA	0.408		NaN											0	0	0	0.00361	0	127	531				
TMPO	7112	broad.mit.edu	37	12	98925604	98925604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:98925604G>C	uc001tfj.2	+	3	790	c.553G>C	c.(553-555)GAC>CAC	p.D185H	TMPO_uc001tfi.1_Missense_Mutation_p.D185H|TMPO_uc001tfk.2_Missense_Mutation_p.D185H|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D185H	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	185	Nucleoplasmic (Potential).|NAKAP95-binding N.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						CAGATACAGTGACAATGAAGA	0.313		NaN											0	0	0	0.009535	0	29	35				
NUAK1	9891	broad.mit.edu	37	12	106500253	106500253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:106500253C>A	uc001tlj.1	-	2	1671	c.291G>T	c.(289-291)ATG>ATT	p.M97I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	97	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TGATGTGAACCATGTCTTGTT	0.343		NaN											1	0	0.000375601	0.00278	0.000386684	25	5				
CUX2	23316	broad.mit.edu	37	12	111758093	111758093	+	Silent	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:111758093G>T	uc001tsa.1	+	17	2433	c.2280G>T	c.(2278-2280)CCG>CCT	p.P760P		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	760						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CGCCGCTCCCGGTCCTGTCCC	0.736		NaN											1	0	1.58986e-06	0.008291	1.66962e-06	11	16				
HPD	3242	broad.mit.edu	37	12	122281692	122281692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:122281692G>A	uc001ubj.2	-	12	918	c.878C>T	c.(877-879)TCC>TTC	p.S293F	HPD_uc001ubk.2_Missense_Mutation_p.S254F	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	293					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GTAGTACGTGGAGGGAACAGA	0.542		NaN											0	0	0	0.012319	0	22	29				
RIMBP2	23504	broad.mit.edu	37	12	130912840	130912840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:130912840G>A	uc001uil.2	-	12	2409	c.2245C>T	c.(2245-2247)CGG>TGG	p.R749W		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	749						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGACCCCCGGCTGCTCTCT	0.617		NaN											0	0	0	0.004007	0	14	45				
PCDH9	5101	broad.mit.edu	37	13	67802415	67802415	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr13:67802415T>C	uc001vik.2	-	2	850	c.158A>G	c.(157-159)AAT>AGT	p.N53S	PCDH9_uc001vil.2_Missense_Mutation_p.N53S|PCDH9_uc010thl.1_Missense_Mutation_p.N53S|PCDH9_uc001vin.3_Missense_Mutation_p.N53S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	53	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGGCAGCATTGATGTGAGA	0.458		NaN											0	0	0	0.003954	0	24	12				
REC8	9985	broad.mit.edu	37	14	24648917	24648917	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:24648917T>G	uc001wmr.2	+	19	1863	c.1436T>G	c.(1435-1437)CTG>CGG	p.L479R	REC8_uc001wms.2_Missense_Mutation_p.L479R	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	479	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		CTGCTCTCACTGGAAGCAGTG	0.612		NaN											0	0	0	0.003954	0	26	48				
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:25043947C>T	uc001wpq.2	-	3	310	c.273G>A	c.(271-273)GCG>GCA	p.A91A		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532		NaN											0	0	0	0.003954	0	25	69				
TRIM9	114088	broad.mit.edu	37	14	51561002	51561002	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:51561002C>T	uc001wyx.3	-	1	1421	c.656G>A	c.(655-657)CGG>CAG	p.R219Q	TRIM9_uc001wyy.2_Missense_Mutation_p.R219Q|TRIM9_uc001wyz.3_Missense_Mutation_p.R219Q	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	219					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCAGCCTCCGGCTCACACG	0.672		NaN											0	0	0	0.00308	0	8	22				
PLEKHG3	26030	broad.mit.edu	37	14	65197535	65197535	+	Silent	SNP	G	G	T	rs144144480		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:65197535G>T	uc001xho.1	+	6	854	c.585G>T	c.(583-585)ACG>ACT	p.T195T	PLEKHG3_uc001xhn.1_Silent_p.T139T|PLEKHG3_uc001xhp.2_Silent_p.T195T|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	195	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGCCCTGACGGAATGCATGC	0.642		NaN											1	0	4.93089e-13	0.00245	5.47102e-13	13	15				
C14orf181	400223	broad.mit.edu	37	14	69262557	69262557	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:69262557G>C	uc001xkj.1	-	1	634	c.455C>G	c.(454-456)TCG>TGG	p.S152W	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		AGGAGGGAGCGAGTCCCTTAA	0.617		NaN											0	0	0	0.00874	0	27	31				
C14orf45	80127	broad.mit.edu	37	14	74489638	74489638	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:74489638G>A	uc010tup.1	+	2	199	c.76G>A	c.(76-78)GAA>AAA	p.E26K		NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	26											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AAAAACAGATGAATCTGTGGT	0.388		NaN											0	0	0	0.00308	0	8	16				
HERC2	8924	broad.mit.edu	37	15	28467360	28467360	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:28467360G>A	uc001zbj.2	-	36	5572	c.5466C>T	c.(5464-5466)GGC>GGT	p.G1822G		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1822					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAACTGGGGCCTGATGGAG	0.443		NaN											0	0	0	0.004007	0	16	29				
FBN1	2200	broad.mit.edu	37	15	48752456	48752456	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48752456G>C	uc001zwx.1	-	43	5611	c.5283C>G	c.(5281-5283)ACC>ACG	p.T1761T	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1761					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGGTAAACCGGTATAAATGT	0.418		NaN											0	0	0	0.00499	0	15	21				
FBN1	2200	broad.mit.edu	37	15	48787780	48787780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48787780C>T	uc001zwx.1	-	21	2753	c.2425G>A	c.(2425-2427)GAT>AAT	p.D809N		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	809	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGCATTCATCAATGTCTGAA	0.378		NaN											0	0	0	0.00361	0	64	99				
SECISBP2L	9728	broad.mit.edu	37	15	49309824	49309824	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:49309824T>A	uc001zxe.1	-	9	1306	c.1172A>T	c.(1171-1173)GAT>GTT	p.D391V	SECISBP2L_uc001zxd.1_Missense_Mutation_p.D346V|SECISBP2L_uc010bep.1_Missense_Mutation_p.D153V|SECISBP2L_uc010beq.1_Missense_Mutation_p.D263V	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	391										breast(1)|skin(1)	2						CCCATCTTCATCCTGAAATGT	0.284		NaN											0	0	0	0.000602	0	5	18				
DPP8	54878	broad.mit.edu	37	15	65790284	65790284	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:65790284C>G	uc002aov.2	-	5	2259	c.681G>C	c.(679-681)TGG>TGC	p.W227C	DPP8_uc002aow.2_Missense_Mutation_p.W227C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W211C|DPP8_uc002aoy.2_Missense_Mutation_p.W227C|DPP8_uc002aoz.2_Missense_Mutation_p.W211C|DPP8_uc010bhj.2_Missense_Mutation_p.W227C|DPP8_uc002apa.2_Missense_Mutation_p.W124C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	227					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TAAAAGCAATCCAGTCTGGAT	0.403		NaN											0	0	0	0.010818	0	33	34				
MYO9A	4649	broad.mit.edu	37	15	72193566	72193566	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:72193566A>G	uc002atl.3	-	23	3589	c.3116T>C	c.(3115-3117)TTC>TCC	p.F1039S	MYO9A_uc010biq.2_Missense_Mutation_p.F659S|MYO9A_uc002atn.1_Missense_Mutation_p.F1020S|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1039	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						CAGATGGAGGAAATGCTGCCT	0.443		NaN											0	0	0	0.010504	0	21	26				
PML	5371	broad.mit.edu	37	15	74315653	74315653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:74315653G>A	uc002awv.2	+	3	1227	c.1087G>A	c.(1087-1089)GAG>AAG	p.E363K	PML_uc002awm.2_Missense_Mutation_p.E363K|PML_uc002awl.2_Missense_Mutation_p.E363K|PML_uc002awj.1_Missense_Mutation_p.E363K|PML_uc002awk.2_Missense_Mutation_p.E363K|PML_uc002awn.2_Missense_Mutation_p.E363K|PML_uc002awo.2_Missense_Mutation_p.E363K|PML_uc002awp.2_Missense_Mutation_p.E363K|PML_uc002awq.2_Missense_Mutation_p.E363K|PML_uc002awr.2_Missense_Mutation_p.E363K|PML_uc002aws.2_Missense_Mutation_p.E363K|PML_uc002awt.2_Missense_Mutation_p.E363K|PML_uc002awu.2_Missense_Mutation_p.E363K|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.E278K|PML_uc002awx.2_Missense_Mutation_p.E121K|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	363					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCGCCAGGAGGAGCCCCAGAG	0.652		NaN	T	RARA|PAX5	APL|ALL								0	0	0	0.004007	0	9	20				
SCAPER	49855	broad.mit.edu	37	15	76994116	76994116	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:76994116G>A	uc002bby.2	-	19	2550	c.2491C>T	c.(2491-2493)CTG>TTG	p.L831L	SCAPER_uc010bkr.2_Silent_p.L139L|SCAPER_uc002bbx.2_Silent_p.L585L|SCAPER_uc002bbz.1_Silent_p.L702L|SCAPER_uc002bca.1_Silent_p.L696L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	830						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						TCATCTGACAGTTCACGCCCC	0.373		NaN											0	0	0	0.003755	0	33	21				
MORF4L1	10933	broad.mit.edu	37	15	79187188	79187188	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:79187188A>T	uc002bel.2	+	12	1134	c.946A>T	c.(946-948)ACA>TCA	p.T316S	MORF4L1_uc002bem.2_Missense_Mutation_p.T277S|MORF4L1_uc010une.1_Missense_Mutation_p.T189S	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	316	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						GTTGGCTTATACACCTCTGGA	0.343		NaN											0	0	0	0.003755	0	36	43				
ANPEP	290	broad.mit.edu	37	15	90348650	90348650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90348650G>A	uc002bop.3	-	3	951	c.659C>T	c.(658-660)TCC>TTC	p.S220F		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	220	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCATGGGAAGGACTTCCGGGC	0.602		NaN											0	0	0	0.010504	0	20	14				
ZNF710	374655	broad.mit.edu	37	15	90611334	90611334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90611334C>A	uc002bov.1	+	2	1088	c.965C>A	c.(964-966)CCA>CAA	p.P322Q		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCATCAAGCCACACTCGTGC	0.637		NaN											1	0	0.000978159	0.010729	0.00100373	9	22				
BLM	641	broad.mit.edu	37	15	91290711	91290711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:91290711C>T	uc002bpr.2	+	2	186	c.89C>T	c.(88-90)CCA>CTA	p.P30L	BLM_uc010uqh.1_Missense_Mutation_p.P30L|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.P30L	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	30					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTTCAAAACCAAAATTTTCG	0.294		NaN	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				0	0	0	0.001984	0	7	13				
C16orf11	146325	broad.mit.edu	37	16	613383	613383	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:613383C>G	uc002chk.2	+	2	368	c.89C>G	c.(88-90)CCC>CGC	p.P30R		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	30										central_nervous_system(1)	1						ATCCCGCGGCCCTGGGGCAAA	0.622		NaN											0	0	0	0.001368	0	10	10				
LMF1	64788	broad.mit.edu	37	16	919947	919947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:919947C>T	uc002ckj.2	-	9	1356	c.1352G>A	c.(1351-1353)CGG>CAG	p.R451Q	LMF1_uc010brg.2_5'Flank|LMF1_uc010brh.2_Missense_Mutation_p.R234Q|LMF1_uc010bri.2_Missense_Mutation_p.R214Q|LMF1_uc002ckk.2_Missense_Mutation_p.R234Q	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	451	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				GAGGCAGGGCCGTCTGCTGGG	0.672		NaN											0	0	0	0.001368	0	10	7				
USP31	57478	broad.mit.edu	37	16	23116802	23116802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23116802C>G	uc002dll.2	-	5	1049	c.1049G>C	c.(1048-1050)CGG>CCG	p.R350P		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	350					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CACTGCTTCCCGAAGTCTGGC	0.468		NaN											0	0	0	0.009535	0	27	51				
COG7	91949	broad.mit.edu	37	16	23445959	23445959	+	Missense_Mutation	SNP	T	T	C	rs140030187		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23445959T>C	uc002dlo.2	-	5	873	c.685A>G	c.(685-687)AAG>GAG	p.K229E		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	229					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		CTTCTTACCTTGTGACACTTG	0.433		NaN									OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	21	33				
PLK1	5347	broad.mit.edu	37	16	23700964	23700964	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23700964C>T	uc002dlz.1	+	9	1628	c.1575C>T	c.(1573-1575)CTC>CTT	p.L525L		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	525	POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCACCTCAGCAACGGCA	0.652		NaN											0	0	0	0.003163	0	13	13				
SH2B1	25970	broad.mit.edu	37	16	28878329	28878329	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:28878329G>T	uc002dri.2	+	4	1353	c.914G>T	c.(913-915)CGC>CTC	p.R305L	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R305L|SH2B1_uc002drk.2_Missense_Mutation_p.R305L|SH2B1_uc002drl.2_Missense_Mutation_p.R305L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R305L|SH2B1_uc002drm.2_Missense_Mutation_p.R305L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	305	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						GGAGGAAGTCGCCTGGAGTTC	0.607		NaN											1	0	2.32416e-17	0.002299	2.61572e-17	23	25				
VKORC1	79001	broad.mit.edu	37	16	31102541	31102541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:31102541T>C	uc002eas.2	-	3	632	c.406A>G	c.(406-408)ATC>GTC	p.I136V	PRSS53_uc002eaq.2_5'Flank|PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_3'UTR|VKORC1_uc002eau.2_3'UTR	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	136	Helical; (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TAGGTGGTGATACAAACAATG	0.537		NaN											0	0	0	0.010729	0	12	69				
CNGB1	1258	broad.mit.edu	37	16	57935276	57935276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:57935276T>A	uc002emt.2	-	29	3021	c.2956A>T	c.(2956-2958)AAC>TAC	p.N986Y	CNGB1_uc010cdh.2_Missense_Mutation_p.N980Y	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	986	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ACATAGTCGTTGGGCAGGTAG	0.567		NaN											0	0	0	0.009535	0	29	68				
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:67679643G>A	uc002etn.2	+	3	269	c.149G>A	c.(148-150)AGA>AAA	p.R50K	RLTPR_uc010cel.1_Missense_Mutation_p.R50K|RLTPR_uc010vjr.1_Missense_Mutation_p.R50K	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	50										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTACGATGGAGAGCCTACCTG	0.667		NaN											0	0	0	0.010818	0	32	29				
WWP2	11060	broad.mit.edu	37	16	69959346	69959346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69959346C>T	uc002exu.1	+	12	1282	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	WWP2_uc002exv.1_Missense_Mutation_p.S398L|WWP2_uc010vlm.1_Missense_Mutation_p.S282L|WWP2_uc010vln.1_Missense_Mutation_p.S16L|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	398					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						TCGAGTGCTTCGACTGACCAT	0.488		NaN											0	0	0	0.00361	0	242	221				
ZNF23	7571	broad.mit.edu	37	16	71483770	71483770	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:71483770T>A	uc002faf.2	-	6	972	c.158A>T	c.(157-159)AAT>ATT	p.N53I	ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_5'UTR|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.N53I|ZNF23_uc002fai.2_Missense_Mutation_p.N92I	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTCAAATCATTGTCAGTCTG	0.318		NaN											0	0	0	0.00245	0	14	36				
RFWD3	55159	broad.mit.edu	37	16	74685992	74685992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:74685992G>A	uc002fda.2	-	3	645	c.547C>T	c.(547-549)CAG>TAG	p.Q183*	RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q183*	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	183					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						CTGCTCACCTGAAAGTAAGCA	0.413		NaN											0	0	0	0.00245	0	13	35				
ZFPM1	161882	broad.mit.edu	37	16	88555534	88555534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:88555534G>A	uc002fkv.2	+	3	274	c.241G>A	c.(241-243)GAG>AAG	p.E81K		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	81					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACGGAGGAAGAGCCGGGCAG	0.711		NaN											0	0	0	0.004672	0	3	7				
ANKRD11	29123	broad.mit.edu	37	16	89345686	89345686	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89345686T>C	uc002fmx.1	-	9	7725	c.7264A>G	c.(7264-7266)ATC>GTC	p.I2422V	ANKRD11_uc002fmy.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2422V|ANKRD11_uc002fna.1_Missense_Mutation_p.I87V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2379V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2422						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCAGCTTGATGGCGTCCACG	0.607		NaN											0	0	0	0.001984	0	3	4				
DPEP1	1800	broad.mit.edu	37	16	89702959	89702959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89702959G>T	uc010cin.2	+	5	592	c.389G>T	c.(388-390)CGG>CTG	p.R130L	DPEP1_uc002fnr.3_Missense_Mutation_p.R130L|DPEP1_uc002fns.3_Missense_Mutation_p.R130L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	130					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CAGGCCTTCCGGGAAGGGAAG	0.662		NaN											1	0	0.00621372	0.006214	0.00633476	9	23				
MED9	55090	broad.mit.edu	37	17	17394774	17394774	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:17394774A>T	uc002grh.1	+	2	462	c.406A>T	c.(406-408)AAG>TAG	p.K136*		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	136	Potential.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						GCAAAAGTACAAGAGCCTCTG	0.567		NaN											0	0	0	0.00278	0	22	66				
MYO15A	51168	broad.mit.edu	37	17	18035826	18035826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:18035826G>C	uc010vxh.1	+	10	4604	c.4266G>C	c.(4264-4266)CAG>CAC	p.Q1422H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1422	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCCTGCCCAGCTCAGGCAGG	0.582		NaN											0	0	0	0.001368	0	12	57				
LASP1	3927	broad.mit.edu	37	17	37026461	37026461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:37026461C>G	uc002hra.2	+	1	350	c.19C>G	c.(19-21)CGG>GGG	p.R7G	LASP1_uc010wdy.1_Missense_Mutation_p.R7G|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_5'UTR	NM_006148	NP_006139	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	7	LIM zinc-binding.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			lung(1)	1						CAACTGCGCCCGGTGCGGCAA	0.672		NaN	T	MLL	AML								0	0	0	0.00499	0	15	12				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261768	39261768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:39261768G>A	uc010wfp.1	+	1	128	c.128G>A	c.(127-129)AGC>AAC	p.S43N		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	43	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|4.					keratin filament					0						TGCCGCCCCAGCTGTTGTGTA	0.652		NaN											0	0	0	0.006214	0	8	29				
SLC4A1	6521	broad.mit.edu	37	17	42337895	42337895	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:42337895A>G	uc002igf.3	-	6	511	c.362T>C	c.(361-363)CTA>CCA	p.L121P	SLC4A1_uc002igg.3_Missense_Mutation_p.L121P	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	121	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCAGGTCTAGGAGGACAGT	0.597		NaN											0	0	0	0.001855	0	13	47				
TRIM25	7706	broad.mit.edu	37	17	54985878	54985878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:54985878C>G	uc002iut.2	-	2	704	c.644G>C	c.(643-645)GGG>GCG	p.G215A	TRIM25_uc010dcj.2_Missense_Mutation_p.G7A	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	215	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					TCTCGACGCCCCGTTGATCTG	0.582		NaN											0	0	0	0.00361	0	48	69				
RAD51C	5889	broad.mit.edu	37	17	56774141	56774141	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:56774141T>C	uc002iwu.2	+	3	534	c.492T>C	c.(490-492)TTT>TTC	p.F164F	RAD51C_uc010woa.1_Silent_p.F164F|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	164					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGAAGTTTTATGGTTGATA	0.423		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				0	0	0	0.00361	0	95	83				
OTOP3	347741	broad.mit.edu	37	17	72942918	72942918	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:72942918T>C	uc010wrr.1	+	6	968	c.968T>C	c.(967-969)ATG>ACG	p.M323T	OTOP3_uc010wrq.1_Missense_Mutation_p.M305T	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	323						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GCACCCCACATGGGTGCCCAC	0.632		NaN											0	0	0	0.00361	0	80	180				
TNRC6C	57690	broad.mit.edu	37	17	76079209	76079209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:76079209C>T	uc002jud.2	+	12	4039	c.3439C>T	c.(3439-3441)CAT>TAT	p.H1147Y	TNRC6C_uc002juf.2_Missense_Mutation_p.H1144Y	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1147					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAATCCTCAACATATGACGAT	0.463		NaN											0	0	0	0.00361	0	49	42				
ACTG1	71	broad.mit.edu	37	17	79478446	79478446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:79478446C>T	uc002kaj.1	-	3	595	c.570G>A	c.(568-570)ATG>ATA	p.M190I	ACTG1_uc002kah.1_Missense_Mutation_p.M68I|ACTG1_uc002kai.1_Missense_Mutation_p.M147I|ACTG1_uc002kak.1_Missense_Mutation_p.M190I|ACTG1_uc010wun.1_Missense_Mutation_p.M190I|ACTG1_uc002kal.1_Missense_Mutation_p.M190I|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	190					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGAGGATCTTCATGAGGTAGT	0.642		NaN											0	0	0	0.005443	0	26	59				
IMPA2	3613	broad.mit.edu	37	18	11999053	11999053	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:11999053A>G	uc002kqp.1	+	2	311	c.97A>G	c.(97-99)ATC>GTC	p.I33V	IMPA2_uc002kqo.1_5'UTR|IMPA2_uc010dlb.1_5'UTR|IMPA2_uc002kqq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	33					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(2)	2					Lithium(DB01356)	TTTATTTCAGATCATCAGAAA	0.423		NaN											0	0	0	0.00361	0	56	17				
ZNF521	25925	broad.mit.edu	37	18	22806433	22806433	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:22806433G>A	uc002kvk.2	-	4	1696	c.1449C>T	c.(1447-1449)TCC>TCT	p.S483S	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.S483S|ZNF521_uc002kvl.2_Silent_p.S263S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	483	C2H2-type 11.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGACAACTTCGGAACAGAAGT	0.443		NaN	T	PAX5	ALL								0	0	0	0.006999	0	37	64				
ASXL3	80816	broad.mit.edu	37	18	31318937	31318937	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:31318937A>G	uc010dmg.1	+	11	1624	c.1569A>G	c.(1567-1569)TCA>TCG	p.S523S	ASXL3_uc002kxq.2_Silent_p.S230S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAGGGAAGTCAGAATCACCCC	0.393		NaN											0	0	0	0.008291	0	11	10				
WDR88	126248	broad.mit.edu	37	19	33663289	33663289	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:33663289T>C	uc002nui.2	+	10	1263	c.1185T>C	c.(1183-1185)ATT>ATC	p.I395I		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	395	WD 7.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TTGAAGAAATTGATGAAATTC	0.323		NaN											0	0	0	0.00361	0	74	35				
ZNF829	374899	broad.mit.edu	37	19	37383113	37383113	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:37383113T>G	uc002ofa.1	-	6	942	c.580A>C	c.(580-582)AGT>CGT	p.S194R	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	194	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCCACGACTAAAGGACTTC	0.368		NaN											0	0	0	0.00333	0	24	105				
PAF1	54623	broad.mit.edu	37	19	39877398	39877398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:39877398G>A	uc002old.2	-	12	1203	c.1028C>T	c.(1027-1029)TCA>TTA	p.S343L	PAF1_uc002ole.1_Missense_Mutation_p.S333L|PAF1_uc010xuv.1_RNA	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	343					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTGGTGCCTGACTGAACCCC	0.567		NaN											0	0	0	0.00361	0	60	230				
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:45867687T>C	uc002pbj.2	-	8	760	c.713A>G	c.(712-714)AAC>AGC	p.N238S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001855	0	11	6		Valid		
PIH1D1	55011	broad.mit.edu	37	19	49950297	49950297	+	Missense_Mutation	SNP	A	A	G	rs17844886		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:49950297A>G	uc002pns.2	-	7	955	c.671T>C	c.(670-672)GTT>GCT	p.V224A	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	224					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGGGAGGTCAACTTCGGCCAA	0.592		NaN											0	0	0	0.00361	0	102	47				
ZSCAN5A	79149	broad.mit.edu	37	19	56733066	56733066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:56733066C>A	uc002qmq.2	-	5	1535	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E340*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E457*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E456*	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	457	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CGCTGGTGCTCCTTCAGGCTC	0.498		NaN											1	0	1.50039e-11	0.012319	1.64154e-11	22	90				
ZNF324	25799	broad.mit.edu	37	19	58982236	58982236	+	Missense_Mutation	SNP	G	G	C	rs145109076	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:58982236G>C	uc002qsw.1	+	4	471	c.377G>C	c.(376-378)CGG>CCG	p.R126P	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGAGACAACGGGGTGCCTCC	0.607		NaN											0	0	0	0.003954	0	17	112				
KIDINS220	57498	broad.mit.edu	37	2	8919858	8919858	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:8919858G>A	uc002qzc.2	-	18	2498	c.2316C>T	c.(2314-2316)ATC>ATT	p.I772I	KIDINS220_uc010yiv.1_Silent_p.I538I|KIDINS220_uc002qzd.2_Silent_p.I730I|KIDINS220_uc010yiw.1_Silent_p.I773I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	772	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCCATCGATGATGACCACCA	0.468		NaN											0	0	0	0.012319	0	21	36				
CPSF3	51692	broad.mit.edu	37	2	9581956	9581956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:9581956C>T	uc002qzo.1	+	9	981	c.946C>T	c.(946-948)CAT>TAT	p.H316Y	CPSF3_uc010ewx.1_Missense_Mutation_p.H316Y|CPSF3_uc002qzp.1_Missense_Mutation_p.H279Y	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	316					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAGCATGGATCATTTTGATGA	0.398		NaN											0	0	0	0.006999	0	40	42				
ROCK2	9475	broad.mit.edu	37	2	11367379	11367379	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:11367379C>T	uc002rbd.1	-	6	1317	c.868_splice	c.e6+1	p.G290_splice		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TATTTACTTACCCACTAGCAT	0.343		NaN											0	0	0	0.009535	0	32	137				
NT5C1B	93034	broad.mit.edu	37	2	18764244	18764244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:18764244G>A	uc002rcz.2	-	7	1195	c.1091C>T	c.(1090-1092)GCT>GTT	p.A364V	NT5C1B_uc002rcy.2_Missense_Mutation_p.A364V|NT5C1B_uc010exr.2_Missense_Mutation_p.A306V|NT5C1B_uc010yju.1_Missense_Mutation_p.A304V|NT5C1B_uc002rda.2_Missense_Mutation_p.A304V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A381V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A347V|NT5C1B_uc010exs.2_Missense_Mutation_p.A366V	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	364					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACGGAGTCTAGCATTGACATA	0.473		NaN											0	0	0	0.002299	0	22	36				
NLRC4	58484	broad.mit.edu	37	2	32475710	32475710	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32475710A>T	uc002roi.2	-	4	1469	c.1223T>A	c.(1222-1224)TTC>TAC	p.F408Y	NLRC4_uc002roj.1_Missense_Mutation_p.F408Y|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	408	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCAGTTCGAAATCAAACTT	0.473		NaN											0	0	0	0.00278	0	23	9				
BIRC6	57448	broad.mit.edu	37	2	32673877	32673877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32673877G>A	uc010ezu.2	+	22	4633	c.4499G>A	c.(4498-4500)AGC>AAC	p.S1500N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1500					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGATTATATAGCTCACCATTT	0.323		NaN											0	0	0	0.003954	0	24	91				
MAP4K3	8491	broad.mit.edu	37	2	39487881	39487881	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:39487881A>G	uc002rro.2	-	29	2265	c.2174T>C	c.(2173-2175)TTT>TCT	p.F725S	MAP4K3_uc002rrp.2_Missense_Mutation_p.F704S|MAP4K3_uc010yns.1_Missense_Mutation_p.F278S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	725	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				CAGCATTTCAAACATTCTAAG	0.363		NaN											0	0	0	0.007413	0	17	45				
CCDC88A	55704	broad.mit.edu	37	2	55544701	55544701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:55544701G>A	uc002ryv.2	-	20	4440	c.3598C>T	c.(3598-3600)CGT>TGT	p.R1200C	CCDC88A_uc010yoz.1_Missense_Mutation_p.R1201C|CCDC88A_uc010ypa.1_Missense_Mutation_p.R1200C|CCDC88A_uc002ryu.2_Missense_Mutation_p.R483C|CCDC88A_uc002rys.2_Missense_Mutation_p.R186C|CCDC88A_uc002ryw.2_Missense_Mutation_p.R484C|CCDC88A_uc010fby.1_Missense_Mutation_p.R80C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1201	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						ATAAATTACCGGTCTTCAAGG	0.303		NaN											0	0	0	0.00333	0	24	101				
CTNNA2	1496	broad.mit.edu	37	2	80101245	80101245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:80101245G>T	uc010ysh.1	+	5	634	c.629G>T	c.(628-630)CGA>CTA	p.R210L	CTNNA2_uc010yse.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysf.1_Missense_Mutation_p.R210L|CTNNA2_uc010ysg.1_Missense_Mutation_p.R210L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	210					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GCAGCCGCCCGAGGGGCTCTG	0.512		NaN											1	0	0.000157383	0.00308	0.000163637	8	39				
IFIH1	64135	broad.mit.edu	37	2	163136571	163136571	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:163136571C>A	uc002uce.2	-	8	1798	c.1576G>T	c.(1576-1578)GAT>TAT	p.D526Y		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	526					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TTCAGTTGATCAAGGTTTTCT	0.328		NaN											1	0	2.80507e-11	0.012213	3.05831e-11	32	40				
LRP2	4036	broad.mit.edu	37	2	170062610	170062610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:170062610C>G	uc002ues.2	-	40	7692	c.7479G>C	c.(7477-7479)ATG>ATC	p.M2493I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2493	LDL-receptor class B 26.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCTTCAGCCATGGAATTAA	0.448		NaN											0	0	0	0.009718	0	42	60				
GAD1	2571	broad.mit.edu	37	2	171700564	171700564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:171700564T>A	uc002ugi.2	+	7	1070	c.648T>A	c.(646-648)TAT>TAA	p.Y216*		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	216					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTTTACATATGAAATTGCAC	0.353		NaN											0	0	0	0.00245	0	14	33				
TTN	7273	broad.mit.edu	37	2	179566962	179566962	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:179566962C>T	uc010zfg.1	-	105	26936	c.26712G>A	c.(26710-26712)TCG>TCA	p.S8904S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S5565S|TTN_uc010fre.1_Silent_p.S15S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9831							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCGATGACCGAGTAGACAC	0.448		NaN											0	0	0	0.00308	0	6	21				
NIF3L1	60491	broad.mit.edu	37	2	201760010	201760010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:201760010G>A	uc002uwm.2	+	4	714	c.623G>A	c.(622-624)CGG>CAG	p.R208Q	NIF3L1_uc002uwl.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwn.2_Missense_Mutation_p.R181Q|NIF3L1_uc002uwo.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwp.2_Missense_Mutation_p.R208Q|NIF3L1_uc002uwq.2_Missense_Mutation_p.R208Q	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	208					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GAACAAACACGGATTAATCTG	0.383		NaN											0	0	0	0.008871	0	18	155				
UGT1A1	54658	broad.mit.edu	37	2	234669219	234669219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669219G>C	uc002vvb.2	+	1	301	c.286G>C	c.(286-288)GGG>CGG	p.G96R	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.G96R	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	96					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTTAGTCTCGGGCATAATGT	0.428		NaN											0	0	0	0.00361	0	67	137				
UGT1A1	54658	broad.mit.edu	37	2	234669236	234669236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669236G>T	uc002vvb.2	+	1	318	c.303G>T	c.(301-303)GAG>GAT	p.E101D	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.E101D	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	101					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGTTTTTGAGAATGATTCTT	0.423		NaN											1	0	1.7318e-42	0.00361	1.96312e-42	98	83				
TGM3	7053	broad.mit.edu	37	20	2315885	2315885	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:2315885A>T	uc002wfx.3	+	11	1863	c.1766A>T	c.(1765-1767)GAC>GTC	p.D589V		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	589					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GTGGAGCGGGACATCATCCTG	0.602		NaN											0	0	0	0.004482	0	8	64				
ZNFX1	57169	broad.mit.edu	37	20	47888256	47888256	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:47888256A>G	uc002xui.2	-	3	340	c.93T>C	c.(91-93)GCT>GCC	p.A31A		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	31							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGATTTCTAGCTCTTGGTG	0.507		NaN											0	0	0	0.008361	0	29	37				
ZNF217	7764	broad.mit.edu	37	20	52192283	52192283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:52192283G>A	uc002xwq.3	-	3	3291	c.3020C>T	c.(3019-3021)TCC>TTC	p.S1007F	ZNF217_uc010gij.1_Missense_Mutation_p.S999F	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	1007					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGTCGAGCTGGATGCTGGACT	0.448		NaN											0	0	0	0.003163	0	16	36				
PPP1R3D	5509	broad.mit.edu	37	20	58514308	58514308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:58514308C>T	uc002ybb.2	-	1	1045	c.679G>A	c.(679-681)GCA>ACA	p.A227T	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	227	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGGGGCCTGCGGGCCCGCGC	0.692		NaN											0	0	0	0.003163	0	12	34				
ADRM1	11047	broad.mit.edu	37	20	60883123	60883123	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:60883123C>T	uc002ycn.2	+	8	983	c.903C>T	c.(901-903)CTC>CTT	p.L301L	ADRM1_uc002yco.2_Silent_p.L301L	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	301					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCCCATCCTCGCCAACGCGG	0.627		NaN											0	0	0	0.004482	0	9	11				
C20orf20	55257	broad.mit.edu	37	20	61428545	61428545	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:61428545T>G	uc002ydi.2	+	2	303	c.232T>G	c.(232-234)TGG>GGG	p.W78G		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	MRG-binding protein	78					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex					0	Breast(26;3.65e-08)					CAAGGTCATCTGGGACCATCT	0.622		NaN											0	0	0	0.008291	0	9	46				
CRYZL1	9946	broad.mit.edu	37	21	34994369	34994369	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:34994369C>T	uc011adw.1	-	4	330	c.150G>A	c.(148-150)CTG>CTA	p.L50L	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.L74L|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Silent_p.L50L	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	50					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						TCATTTCTGCCAGAAGCTAAA	0.338		NaN											0	0	0	0.00361	0	50	90				
B3GALT5	10317	broad.mit.edu	37	21	41032664	41032664	+	Missense_Mutation	SNP	G	G	C	rs146778477		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:41032664G>C	uc002yyb.1	+	5	770	c.178G>C	c.(178-180)GTC>CTC	p.V60L	B3GALT5_uc002yye.2_Missense_Mutation_p.V60L|B3GALT5_uc002yyi.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyj.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyk.1_Missense_Mutation_p.V60L|B3GALT5_uc002yyl.1_Missense_Mutation_p.V60L|B3GALT5_uc002yym.1_Missense_Mutation_p.V60L	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	60	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				TCCCTTCCTCGTCCTGCTGGT	0.522		NaN											0	0	0	0.010729	0	12	113				
ARVCF	421	broad.mit.edu	37	22	19961220	19961220	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:19961220C>T	uc002zqz.2	-	13	2456	c.2185G>A	c.(2185-2187)GTC>ATC	p.V729I	ARVCF_uc002zqy.2_Missense_Mutation_p.V245I	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	729	ARM 8.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GCGATGGCGACGGCGCGCACC	0.662		NaN											0	0	0	0.010504	0	20	150				
MYH9	4627	broad.mit.edu	37	22	36697582	36697582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:36697582G>A	uc003apg.2	-	21	2860	c.2629C>T	c.(2629-2631)CAG>TAG	p.Q877*	MYH9_uc003aph.1_Nonsense_Mutation_p.Q741*	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	877	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACACCCACCTGAGACTGCAGC	0.607		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	22	56				
EP300	2033	broad.mit.edu	37	22	41553195	41553195	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41553195G>T	uc003azl.3	+	18	3679	c.3284G>T	c.(3283-3285)AGC>ATC	p.S1095I		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1095	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATTGTGAAGAGCCCCATGGAT	0.393		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	2.94398e-08	0.007413	3.17667e-08	19	29		Valid		
POLR3H	171568	broad.mit.edu	37	22	41928097	41928097	+	Splice_Site	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41928097C>A	uc003baf.2	-	5	419	c.359_splice	c.e5+1	p.F120_splice	POLR3H_uc003bae.2_Splice_Site|POLR3H_uc003bag.2_Splice_Site_p.F120_splice|POLR3H_uc003bai.2_Splice_Site_p.F91_splice	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			skin(1)	1						TTGGAGGATACAACTTGGCTG	0.557		NaN											1	0	1.04121e-07	0.005443	1.11584e-07	22	28				
PMM1	5372	broad.mit.edu	37	22	41980552	41980552	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41980552G>A	uc003bal.2	-	3	323	c.261C>T	c.(259-261)CAC>CAT	p.H87H		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	87					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						GCAGTCGTCCGTGCTTATACT	0.552		NaN											0	0	0	0.00361	0	51	36				
MOV10L1	54456	broad.mit.edu	37	22	50563824	50563824	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:50563824C>T	uc003bjj.2	+	11	1656	c.1573C>T	c.(1573-1575)CTG>TTG	p.L525L	MOV10L1_uc003bjk.3_Silent_p.L525L|MOV10L1_uc011arp.1_Silent_p.L505L|MOV10L1_uc011arq.1_Silent_p.L286L|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	525					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCCAGCTTCTGAACATGTC	0.438		NaN											0	0	0	0.004878	0	34	11				
TMEM111	55831	broad.mit.edu	37	3	10012301	10012301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:10012301C>G	uc003bun.2	-	6	718	c.539G>C	c.(538-540)CGG>CCG	p.R180P	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.R180P	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	180						integral to membrane					0						GTAAATGCTCCGAAGCCCAAA	0.403		NaN											0	0	0	0.00361	0	206	82				
NR2C2	7182	broad.mit.edu	37	3	15062406	15062406	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15062406A>G	uc003bzj.3	+	5	740	c.523A>G	c.(523-525)AAA>GAA	p.K175E	NR2C2_uc003bzi.2_Missense_Mutation_p.K194E	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	175	NR C4-type.|Nuclear receptor.				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TTGCCGGCTGAAAAAATGCTT	0.408		NaN											0	0	0	0.00499	0	14	44				
ANKRD28	23243	broad.mit.edu	37	3	15762530	15762530	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15762530A>T	uc003caj.1	-	8	941	c.798T>A	c.(796-798)AAT>AAA	p.N266K	ANKRD28_uc003cai.1_Missense_Mutation_p.N112K|ANKRD28_uc011avz.1_Missense_Mutation_p.N112K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N296K|ANKRD28_uc003cam.2_Missense_Mutation_p.N299K	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	266	ANK 7.					nucleoplasm	protein binding			breast(1)	1						CATTCTTTTGATTCACAATAG	0.403		NaN											0	0	0	0.00361	0	94	212				
KCNH8	131096	broad.mit.edu	37	3	19575409	19575409	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:19575409A>C	uc003cbk.1	+	16	3337	c.3142A>C	c.(3142-3144)AGC>CGC	p.S1048R	KCNH8_uc010hex.1_Missense_Mutation_p.S509R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	1048	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGTTCTCCCAAGCAGATCAGA	0.488		NaN											0	0	0	0.00361	0	56	56				
EXOG	9941	broad.mit.edu	37	3	38537926	38537926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:38537926G>A	uc003cih.2	+	1	164	c.68G>A	c.(67-69)GGG>GAG	p.G23E	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.G23E|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	23						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						TTCGTGGCTGGGGCTGTAGTG	0.652		NaN									OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	3	12				
NKTR	4820	broad.mit.edu	37	3	42687412	42687412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:42687412G>A	uc003clo.2	+	17	4481	c.4334G>A	c.(4333-4335)AGT>AAT	p.S1445N	NKTR_uc003clp.2_Missense_Mutation_p.S1193N|NKTR_uc011azp.1_Missense_Mutation_p.V256M|NKTR_uc003cls.2_Missense_Mutation_p.S1145N	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1445					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GACAGTGAAAGTGACCGAAGT	0.353		NaN											0	0	0	0.006214	0	9	19				
SETD2	29072	broad.mit.edu	37	3	47125299	47125299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:47125299C>A	uc003cqs.2	-	12	6024	c.5971G>T	c.(5971-5973)GAG>TAG	p.E1991*	SETD2_uc003cqv.2_Nonsense_Mutation_p.E2058*|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCACTCTCCACATCAGAC	0.448		NaN	N|F|S|Mis		clear cell renal carcinoma								1	0	4.09166e-32	0.00361	4.62151e-32	70	80		Valid		
CCDC51	79714	broad.mit.edu	37	3	48474335	48474335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:48474335C>T	uc003csz.2	-	4	840	c.719G>A	c.(718-720)GGG>GAG	p.G240E	PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.G131E|CCDC51_uc003ctb.2_Missense_Mutation_p.G131E|CCDC51_uc003ctc.2_Missense_Mutation_p.G240E|CCDC51_uc003ctd.2_Missense_Mutation_p.G131E	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	240						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTCACAGGCCCCTTCTGCGC	0.602		NaN											0	0	0	0.009718	0	39	42				
WDR6	11180	broad.mit.edu	37	3	49051674	49051674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49051674C>T	uc003cvj.2	+	3	2842	c.2704C>T	c.(2704-2706)CAG>TAG	p.Q902*	WDR6_uc011bby.1_Nonsense_Mutation_p.Q350*|WDR6_uc010hkn.2_Nonsense_Mutation_p.Q846*|WDR6_uc011bbz.1_Nonsense_Mutation_p.Q821*	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	872	WD 13.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGAACTTGACCAGCCCGGCCT	0.582		NaN									OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	6	30				
USP19	10869	broad.mit.edu	37	3	49153998	49153998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49153998G>A	uc003cwd.1	-	7	1027	c.866C>T	c.(865-867)TCG>TTG	p.S289L	USP19_uc003cwa.2_Missense_Mutation_p.S95L|USP19_uc003cvz.3_Missense_Mutation_p.S390L|USP19_uc011bcg.1_Missense_Mutation_p.S380L|USP19_uc003cwb.2_Missense_Mutation_p.S375L|USP19_uc003cwc.1_Missense_Mutation_p.S45L|USP19_uc011bch.1_Missense_Mutation_p.S390L|USP19_uc011bci.1_Missense_Mutation_p.S375L	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	289	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCTCATACGAGTCATTCTT	0.537		NaN											0	0	0	0.010771	0	42	50				
MST1R	4486	broad.mit.edu	37	3	49929204	49929204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49929204G>C	uc003cxy.3	-	15	3603	c.3339C>G	c.(3337-3339)ATC>ATG	p.I1113M	MST1R_uc011bdc.1_Translation_Start_Site	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1113	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTAGTGACTTGATGGCACATT	0.517		NaN											0	0	0	0.00361	0	84	79				
ITIH3	3699	broad.mit.edu	37	3	52835110	52835110	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:52835110A>G	uc003dfv.2	+	11	1367	c.1331A>G	c.(1330-1332)CAT>CGT	p.H444R	ITIH3_uc011bek.1_Missense_Mutation_p.H444R	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	444	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGGAGAACCATGGGTTTGCC	0.393		NaN											0	0	0	0.008871	0	21	21				
CACNA2D3	55799	broad.mit.edu	37	3	54420796	54420796	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:54420796T>A	uc003dhf.2	+	4	424	c.376T>A	c.(376-378)TTA>ATA	p.L126I	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.L32I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	126	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGCAGACTTACAGGTAAC	0.368		NaN											0	0	0	0.009096	0	3	9				
WNT5A	7474	broad.mit.edu	37	3	55504170	55504170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:55504170C>G	uc003dhn.2	-	5	1411	c.1093G>C	c.(1093-1095)GTC>CTC	p.V365L	WNT5A_uc003dhm.2_Missense_Mutation_p.V350L|WNT5A_uc010hmw.2_Missense_Mutation_p.V350L|WNT5A_uc010hmx.2_Missense_Mutation_p.V276L	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	365					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592		NaN											0	0	0	0.007291	0	22	30				
KIAA1524	57650	broad.mit.edu	37	3	108273235	108273235	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:108273235T>A	uc003dxb.3	-	18	2581	c.2312A>T	c.(2311-2313)GAA>GTA	p.E771V		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	771	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TTCATTTTGTTCCTTGAGTGA	0.269		NaN											0	0	0	0.001984	0	5	12				
CASR	846	broad.mit.edu	37	3	121994736	121994736	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:121994736G>C	uc003eev.3	+	5	1827	c.1455G>C	c.(1453-1455)CTG>CTC	p.L485L	CASR_uc003eew.3_Silent_p.L485L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	485	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGGTGACCTGGTGGGGAACT	0.488		NaN											0	0	0	0.00361	0	63	96				
ADCY5	111	broad.mit.edu	37	3	123046525	123046525	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:123046525G>A	uc003egh.1	-	7	1887	c.1887C>T	c.(1885-1887)AAC>AAT	p.N629N	ADCY5_uc003egg.1_Silent_p.N262N|ADCY5_uc003egi.1_Silent_p.N188N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	629	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGAGGTAGGCGTTGCGCTCGC	0.642		NaN											0	0	0	0.00308	0	8	33				
STAG1	10274	broad.mit.edu	37	3	136287647	136287647	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:136287647C>T	uc003era.1	-	5	646	c.354G>A	c.(352-354)CTG>CTA	p.L118L	STAG1_uc003erb.1_Silent_p.L118L|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_Silent_p.L21L|STAG1_uc003ere.2_Silent_p.L118L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	118					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TGATTAAATCCAGAAGTGCGA	0.353		NaN											0	0	0	0.004007	0	14	44				
MRPS22	56945	broad.mit.edu	37	3	139065815	139065815	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:139065815A>T	uc003etb.2	+	2	276	c.268A>T	c.(268-270)ACT>TCT	p.T90S	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.T89S|MRPS22_uc003ete.2_Missense_Mutation_p.T49S	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	90						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						CTTGCAGAAGACTTTTAAGCC	0.413		NaN											0	0	0	0.00361	0	55	70				
TFDP2	7029	broad.mit.edu	37	3	141671502	141671502	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:141671502G>C	uc003eun.3	-	13	1573	c.1194C>G	c.(1192-1194)GCC>GCG	p.A398A	TFDP2_uc003euk.3_Silent_p.A311A|TFDP2_uc010hur.2_Silent_p.A338A|TFDP2_uc003eul.3_Silent_p.A338A|TFDP2_uc011bnf.1_Silent_p.A301A|TFDP2_uc011bng.1_Silent_p.A262A|TFDP2_uc003eum.3_Silent_p.A338A	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	398					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						CAGTTGCTAAGGCCACTTCTG	0.493		NaN											0	0	0	0.002836	0	32	42				
TRPC1	7220	broad.mit.edu	37	3	142499680	142499680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:142499680G>A	uc003evc.2	+	6	905	c.769G>A	c.(769-771)GAT>AAT	p.D257N	TRPC1_uc003evb.2_Missense_Mutation_p.D223N	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	257	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						TTATAGGAATGATTATGAGGA	0.343		NaN											0	0	0	0.003163	0	15	61				
P2RY13	53829	broad.mit.edu	37	3	151046556	151046556	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:151046556A>G	uc003eyv.2	-	2	309	c.288T>C	c.(286-288)CTT>CTC	p.L96L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	96	Helical; Name=2; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTTTGAAAGGAAGCATGAGTG	0.468		NaN											0	0	0	0.012213	0	34	55				
GP5	2814	broad.mit.edu	37	3	194117570	194117570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:194117570C>T	uc003ftv.1	-	2	1473	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	481	Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCAgcggggcggggaggcgg	0.612		NaN											0	0	0	0.008361	0	32	36				
DRD5	1816	broad.mit.edu	37	4	9784901	9784901	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:9784901C>T	uc003gmb.3	+	1	1644	c.1248C>T	c.(1246-1248)AAC>AAT	p.N416N		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	416	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGATGCCCAACGCCGTTACCC	0.562		NaN											0	0	0	0.002299	0	20	42				
PHOX2B	8929	broad.mit.edu	37	4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:41748140G>A	uc003gwf.3	-	3	989	c.629C>T	c.(628-630)GCG>GTG	p.A210V		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						gccTCCATTCGCCCCGCAGCT	0.408		NaN	Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				0	0	0	0.001984	0	7	16				
NMU	10874	broad.mit.edu	37	4	56471508	56471508	+	Silent	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:56471508A>C	uc003hbc.2	-	7	475	c.369T>G	c.(367-369)GTT>GTG	p.V123V	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.V38V|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	123					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		ACGGATGCACAACTGACGACT	0.463		NaN											0	0	0	0.008361	0	29	27				
PDE5A	8654	broad.mit.edu	37	4	120484008	120484008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:120484008T>C	uc003idh.2	-	6	1266	c.1111A>G	c.(1111-1113)ATA>GTA	p.I371V	PDE5A_uc003idf.2_Missense_Mutation_p.I329V|PDE5A_uc003idg.2_Missense_Mutation_p.I319V	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	371	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCATCCACTATGAAAATGGTG	0.299		NaN											0	0	0	0.005443	0	23	64				
C4orf31	79625	broad.mit.edu	37	4	121958158	121958158	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:121958158A>C	uc003idq.1	-	4	1495	c.968T>G	c.(967-969)ATG>AGG	p.M323R		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	323	Fibronectin type-III 1.										0						AGCGGTGCTCATGTTGCTGTT	0.418		NaN											0	0	0	0.00632	0	29	46				
PCDH10	57575	broad.mit.edu	37	4	134071562	134071562	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:134071562C>A	uc003iha.2	+	1	1093	c.267C>A	c.(265-267)CCC>CCA	p.P89P	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P89P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	89	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAGAGCCCCTCCTGTGTCC	0.547		NaN											1	0	5.35047e-06	0.00333	5.60016e-06	25	42				
USP38	84640	broad.mit.edu	37	4	144127185	144127185	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:144127185G>A	uc003ijb.2	+	6	1744	c.1210_splice	c.e6-1	p.D404_splice	USP38_uc003ija.3_Splice_Site_p.D404_splice|USP38_uc003ijc.2_Splice_Site	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					ATGACCTATAGGATTTTCCTA	0.308		NaN											0	0	0	0.010504	0	20	29				
NPY5R	4889	broad.mit.edu	37	4	164271624	164271624	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:164271624A>G	uc003iqn.2	+	4	381	c.199A>G	c.(199-201)ATG>GTG	p.M67V		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	67	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				AATGGCTCTCATGAAAAAGCG	0.383		NaN											0	0	0	0.00361	0	56	129				
ADCY2	108	broad.mit.edu	37	5	7817004	7817004	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:7817004T>C	uc003jdz.1	+	23	2976	c.2909T>C	c.(2908-2910)ATT>ACT	p.I970T	ADCY2_uc011cmo.1_Missense_Mutation_p.I790T|ADCY2_uc010itm.1_Missense_Mutation_p.I166T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	970	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TACATGCACATTGGCACCATG	0.517		NaN									OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.002299	0	21	57				
TRIO	7204	broad.mit.edu	37	5	14492807	14492807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:14492807G>A	uc003jff.2	+	49	7770	c.7764G>A	c.(7762-7764)ATG>ATA	p.M2588I	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2588	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGCAGAACATGTTTCTGGTGT	0.562		NaN											0	0	0	0.001168	0	5	24				
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:33576343G>A	uc003jia.1	-	19	3951	c.3788C>T	c.(3787-3789)ACG>ATG	p.T1263M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1178M	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1263	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						ACGGTTTGCCGTCTTTCCTGA	0.502		NaN								HNSCC(64;0.19)			0	0	0	0.00361	0	48	92				
NIPBL	25836	broad.mit.edu	37	5	36976326	36976326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:36976326G>C	uc003jkl.3	+	9	1816	c.1317G>C	c.(1315-1317)CAG>CAC	p.Q439H	NIPBL_uc003jkk.3_Missense_Mutation_p.Q439H|NIPBL_uc003jkm.1_Missense_Mutation_p.Q318H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	439	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTACAACAGAACACTTCAG	0.423		NaN											0	0	0	0.010504	0	22	46				
MAP3K1	4214	broad.mit.edu	37	5	56152428	56152428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:56152428C>T	uc003jqw.3	+	2	985	c.484C>T	c.(484-486)CGT>TGT	p.R162C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	162					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCATTTTAGTCGTGAGATGGA	0.373		NaN											0	0	0	0.008291	0	11	12				
TNPO1	3842	broad.mit.edu	37	5	72144225	72144225	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:72144225A>C	uc003kck.3	+	2	176	c.29A>C	c.(28-30)GAG>GCG	p.E10A	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.E10A|TNPO1_uc003kch.2_Missense_Mutation_p.E2A|TNPO1_uc003kci.3_Missense_Mutation_p.E2A|TNPO1_uc003kcg.3_Missense_Mutation_p.E2A	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	10					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACCAAGATGGAGTATGAGTGG	0.562		NaN											0	0	0	0.007413	0	19	5				
WDR36	134430	broad.mit.edu	37	5	110459882	110459882	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:110459882A>T	uc003kpd.2	+	21	2630	c.2513A>T	c.(2512-2514)AAT>ATT	p.N838I	WDR36_uc010jbu.2_Intron	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	838					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTGGTAAATAATAAGTGTAAG	0.279		NaN											0	0	0	0.004007	0	14	77				
SEMA6A	57556	broad.mit.edu	37	5	115833065	115833065	+	Silent	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:115833065A>T	uc010jck.2	-	4	946	c.237T>A	c.(235-237)GTT>GTA	p.V79V	SEMA6A_uc003krx.3_Silent_p.V79V	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	79	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTCTATATCAACAGTATAAA	0.303		NaN											0	0	0	0.001168	0	5	53				
HSD17B4	3295	broad.mit.edu	37	5	118865646	118865646	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:118865646T>C	uc003ksj.2	+	21	1948	c.1825T>C	c.(1825-1827)TCT>CCT	p.S609P	HSD17B4_uc011cwg.1_Missense_Mutation_p.S585P|HSD17B4_uc011cwh.1_Missense_Mutation_p.S591P|HSD17B4_uc011cwi.1_Missense_Mutation_p.S634P|HSD17B4_uc003ksk.3_Missense_Mutation_p.S462P|HSD17B4_uc011cwj.1_Missense_Mutation_p.S462P|HSD17B4_uc010jcn.1_Missense_Mutation_p.S347P|HSD17B4_uc010jco.1_Silent_p.H77H	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	609	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGCACCAACATCTGGTACTTC	0.363		NaN											0	0	0	0.012319	0	22	128				
MATR3	9782	broad.mit.edu	37	5	138654644	138654644	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:138654644T>C	uc003ldu.2	+	11	1783	c.1356T>C	c.(1354-1356)GAT>GAC	p.D452D	MATR3_uc010jfb.2_Silent_p.D452D|MATR3_uc003ldt.2_Silent_p.D114D|MATR3_uc003ldw.2_Silent_p.D452D|MATR3_uc003ldx.2_Silent_p.D452D|MATR3_uc010jfc.2_Silent_p.D452D|MATR3_uc003ldy.2_Silent_p.D129D|MATR3_uc011czb.1_Silent_p.D164D|MATR3_uc003ldz.2_Silent_p.D452D|MATR3_uc003lea.2_Silent_p.D452D|MATR3_uc003leb.2_Silent_p.D114D|MATR3_uc003lec.2_Silent_p.D129D	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	452	RRM 1.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGCAGTGGATTATTACACAA	0.363		NaN											0	0	0	0.00245	0	15	36				
C5orf53	492311	broad.mit.edu	37	5	139508200	139508200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:139508200G>A	uc003lfb.1	+	1	2680	c.139G>A	c.(139-141)GAG>AAG	p.E47K		NM_001007189	NP_001007190	A6NJ69	IGIP_HUMAN	IgA-inducing protein precursor	47						extracellular region					0						CAGCCGGCTTGAGTTTGTTCA	0.393		NaN											0	0	0	0.010504	0	21	67				
PCDHA4	56144	broad.mit.edu	37	5	140186836	140186836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:140186836G>A	uc003lhi.2	+	1	165	c.64G>A	c.(64-66)GCA>ACA	p.A22T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A22T|PCDHA4_uc011daa.1_Missense_Mutation_p.A22T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	22					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.572		NaN											0	0	0	0.009535	0	31	96				
KCTD16	57528	broad.mit.edu	37	5	143586786	143586786	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:143586786A>G	uc003lnm.1	+	3	1138	c.509A>G	c.(508-510)TAC>TGC	p.Y170C	KCTD16_uc003lnn.1_Missense_Mutation_p.Y170C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	170						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACTGTGGGTTACAGAGGATCC	0.537		NaN											0	0	0	0.003755	0	36	28				
NSD1	64324	broad.mit.edu	37	5	176707662	176707662	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176707662A>G	uc003mfr.3	+	18	5857	c.5719A>G	c.(5719-5721)ATA>GTA	p.I1907V	NSD1_uc003mft.3_Missense_Mutation_p.I1638V|NSD1_uc003mfs.1_Missense_Mutation_p.I1804V|NSD1_uc011dfx.1_Missense_Mutation_p.I1555V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1907	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCCTGTGGGATAGACTCTGA	0.522		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.003271	0	35	37		Valid		
B4GALT7	11285	broad.mit.edu	37	5	177034458	177034458	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:177034458T>G	uc003mhy.2	+	3	609	c.569T>G	c.(568-570)CTC>CGC	p.L190R	B4GALT7_uc003mhz.2_Missense_Mutation_p.L76R	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	190	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGAGCTCCACCCTCTC	0.617		NaN									OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	27				
HNRNPAB	3182	broad.mit.edu	37	5	177637274	177637274	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:177637274G>A	uc003miu.2	+	7	1185	c.928_splice	c.e7+1	p.S310_splice	HNRNPAB_uc003miv.2_Intron|HNRNPAB_uc010jks.2_Intron|HNRNPAB_uc003miw.2_Splice_Site_p.S310_splice|HNRNPAB_uc003mix.2_Intron|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						TACGACTACAGTAAGTAGGAG	0.567		NaN											0	0	0	0.001368	0	10	6				
HIST1H3A	8350	broad.mit.edu	37	6	26020953	26020953	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:26020953T>G	uc003nfp.1	+	1	236	c.236T>G	c.(235-237)TTT>TGT	p.F79C	HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	NM_003529	NP_003520	P68431	H31_HUMAN	histone cluster 1, H3a	79					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|pancreas(1)	2						GCGCAGGACTTTAAAACAGAC	0.562		NaN											0	0	0	0.006122	0	13	25				
SLC44A4	80736	broad.mit.edu	37	6	31831441	31831441	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31831441T>A	uc010jti.2	-	21	2162	c.2096A>T	c.(2095-2097)AAC>ATC	p.N699I	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	699	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GGGCGCCTCGTTCTTCTTGCC	0.597		NaN											0	0	0	0.003163	0	15	22				
CFB	629	broad.mit.edu	37	6	31919363	31919363	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31919363G>A	uc003nyj.3	+	17	2399	c.2121G>A	c.(2119-2121)AAG>AAA	p.K707K	CFB_uc011dor.1_Silent_p.K1209K	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	707	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						TAGTTCACAAGAGAAGTCGTT	0.512		NaN											0	0	0	0.00361	0	65	164				
PSMB8	5696	broad.mit.edu	37	6	32808759	32808759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32808759G>A	uc003oce.2	-	6	851	c.808C>T	c.(808-810)CAG>TAG	p.Q270*	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Nonsense_Mutation_p.Q266*	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	270					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						TCCCGGTACTGGTGCAGCAGG	0.512		NaN											0	0	0	0.00361	0	49	48				
BRD2	6046	broad.mit.edu	37	6	32945996	32945996	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32945996C>A	uc003ocn.3	+	10	3373	c.1672C>A	c.(1672-1674)CGG>AGG	p.R558R	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.R558R|BRD2_uc003ocp.3_Silent_p.R438R|BRD2_uc010juh.2_Silent_p.R558R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	558	Poly-Lys.|Nuclear localization signal (Potential).|Arg/Lys-rich (highly basic).		R -> G (in a gastric adenocarcinoma sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.R558G(1)		central_nervous_system(3)|stomach(2)	5						AAAGAAGAAACGGAAGGCAGA	0.527		NaN											1	0	1.08611e-07	0.010729	1.15606e-07	12	63				
B3GALT4	8705	broad.mit.edu	37	6	33245680	33245680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:33245680G>T	uc003odr.2	+	1	764	c.484G>T	c.(484-486)GAG>TAG	p.E162*		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	162	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GAACTGGGCTGAGAAACACTG	0.607		NaN											1	0	4.26978e-12	0.00333	4.72081e-12	25	77				
MDFI	4188	broad.mit.edu	37	6	41621154	41621154	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:41621154G>C	uc003oqp.3	+	6	911	c.582G>C	c.(580-582)TCG>TCC	p.S194S	MDFI_uc003oqq.3_Silent_p.S194S|MDFI_uc010jxn.2_Silent_p.S194S	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	194	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCTGCAGCTCGGAGGACTCGT	0.647		NaN											0	0	0	0.00499	0	9	14				
C6orf223	221416	broad.mit.edu	37	6	43970834	43970834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:43970834C>T	uc003own.2	+	4	718	c.700C>T	c.(700-702)CGC>TGC	p.R234C	uc003owm.1_Intron|C6orf223_uc003owo.2_Missense_Mutation_p.R214C	NM_153246	NP_694978	Q8N319	CF223_HUMAN	hypothetical protein LOC221416	234											0	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCGGCGCTCCGCGGCGCTGG	0.667		NaN											0	0	0	0.004482	0	5	9				
DST	667	broad.mit.edu	37	6	56325021	56325021	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:56325021A>T	uc003pdf.2	-	96	16701	c.16673T>A	c.(16672-16674)CTT>CAT	p.L5558H	DST_uc003pcz.3_Missense_Mutation_p.L5380H|DST_uc011dxj.1_Missense_Mutation_p.L5409H|DST_uc011dxk.1_Missense_Mutation_p.L5420H|DST_uc003pcy.3_Missense_Mutation_p.L5054H|DST_uc003pcv.3_Missense_Mutation_p.L176H|DST_uc003pcw.3_Missense_Mutation_p.L137H|DST_uc003pcx.3_Missense_Mutation_p.L100H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7453					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATCCTGGAAGTCGAAGCTT	0.463		NaN											0	0	0	0.010504	0	19	25				
PHIP	55023	broad.mit.edu	37	6	79655145	79655145	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:79655145C>G	uc003pir.2	-	39	4926	c.4700G>C	c.(4699-4701)AGT>ACT	p.S1567T	PHIP_uc003piq.2_Missense_Mutation_p.S591T|PHIP_uc011dyp.1_Missense_Mutation_p.S1566T|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.S453T	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1567					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGTGCCATGACTAAAACTGGA	0.348		NaN											0	0	0	0.004007	0	16	39				
IBTK	25998	broad.mit.edu	37	6	82910359	82910359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:82910359C>T	uc003pjl.1	-	20	3384	c.2857G>A	c.(2857-2859)GTA>ATA	p.V953I	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.V953I|IBTK_uc011dyw.1_Missense_Mutation_p.V752I|IBTK_uc010kbi.1_Missense_Mutation_p.V647I|IBTK_uc003pjm.2_Missense_Mutation_p.V953I	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	953					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCATCTTCTACTTCCAAATAG	0.269		NaN											0	0	0	0.003163	0	16	12				
ZNF292	23036	broad.mit.edu	37	6	87970340	87970340	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:87970340C>G	uc003plm.3	+	8	7034	c.6993C>G	c.(6991-6993)CCC>CCG	p.P2331P		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAAATGCCCAAGACCAAAC	0.378		NaN											0	0	0	0.003163	0	14	12				
PRDM1	639	broad.mit.edu	37	6	106547284	106547284	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:106547284C>A	uc003prd.2	+	4	755	c.521C>A	c.(520-522)GCT>GAT	p.A174D	PRDM1_uc003pre.2_Missense_Mutation_p.A40D	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	174	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y174*(1)		haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAAAACCTGGCTGCGTGTCAG	0.502		NaN	D|N|Mis|F|S		DLBCL								1	0	1.22574e-08	0.002299	1.32718e-08	23	37				
IL20RA	53832	broad.mit.edu	37	6	137325794	137325794	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:137325794A>G	uc003qhj.2	-	6	1261	c.828T>C	c.(826-828)TAT>TAC	p.Y276Y	IL20RA_uc011edl.1_Silent_p.Y227Y|IL20RA_uc003qhk.2_Silent_p.Y165Y|IL20RA_uc003qhi.2_Silent_p.Y8Y	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	276	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAACGTGGATATATCGGTAGA	0.413		NaN											0	0	0	0.00361	0	134	77				
HIVEP2	3097	broad.mit.edu	37	6	143092722	143092722	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:143092722C>G	uc003qjd.2	-	5	3897	c.3154G>C	c.(3154-3156)GAT>CAT	p.D1052H		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCATAATCAAATGATTTG	0.557		NaN											0	0	0	0.012213	0	33	22				
SYTL3	94120	broad.mit.edu	37	6	159181706	159181706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:159181706A>C	uc003qrp.2	+	14	1587	c.1343A>C	c.(1342-1344)AAT>ACT	p.N448T	SYTL3_uc011efp.1_Missense_Mutation_p.N448T|SYTL3_uc003qro.2_Missense_Mutation_p.N380T|SYTL3_uc003qrq.2_Missense_Mutation_p.N380T|SYTL3_uc003qrr.2_Missense_Mutation_p.N448T|SYTL3_uc003qrs.2_Missense_Mutation_p.N380T|SYTL3_uc011efq.1_Missense_Mutation_p.N174T	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	448					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTCAGAGTAATGGAGAGCTC	0.557		NaN											0	0	0	0.010504	0	19	65				
IGF2R	3482	broad.mit.edu	37	6	160483635	160483635	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:160483635C>G	uc003qta.2	+	26	3802	c.3654C>G	c.(3652-3654)CCC>CCG	p.P1218P		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1218	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCCTGTCCCGTTGTCAGAG	0.463		NaN											0	0	0	0.006122	0	16	27				
INTS1	26173	broad.mit.edu	37	7	1527588	1527588	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:1527588T>C	uc003skn.2	-	19	2425	c.2324A>G	c.(2323-2325)TAC>TGC	p.Y775C	INTS1_uc003skp.1_Missense_Mutation_p.Y122C	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	775					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGGTAGGAGTAGTTGCTAGG	0.652		NaN											0	0	0	0.00361	0	61	85				
SDK1	221935	broad.mit.edu	37	7	4171955	4171955	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:4171955A>T	uc003smx.2	+	28	4269	c.4130_splice	c.e28-2	p.A1377_splice	SDK1_uc010kso.2_Splice_Site_p.A653_splice|SDK1_uc003smy.2_Splice_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor						cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTTCCCTTCAGCCCCAGGCC	0.582		NaN											0	0	0	0.004482	0	8	12				
CYTH3	9265	broad.mit.edu	37	7	6210831	6210831	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:6210831A>C	uc003spt.2	-	7	666	c.562_splice	c.e7+1	p.D188_splice	CYTH3_uc011jws.1_Splice_Site_p.D103_splice	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						CTCTGCACTGACCTGTGGACT	0.662		NaN											0	0	0	0.007291	0	25	72				
ICA1	3382	broad.mit.edu	37	7	8260975	8260975	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:8260975G>T	uc003srm.2	-	5	377	c.310C>A	c.(310-312)CAA>AAA	p.Q104K	ICA1_uc010ktr.2_Missense_Mutation_p.Q104K|ICA1_uc003srl.2_Missense_Mutation_p.Q92K|ICA1_uc003srn.3_Missense_Mutation_p.Q30K|ICA1_uc003srp.3_Missense_Mutation_p.Q103K|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Q104K|ICA1_uc003srr.2_Missense_Mutation_p.Q103K|ICA1_uc003sro.3_Missense_Mutation_p.Q104K|ICA1_uc011jxg.1_Missense_Mutation_p.Q104K|ICA1_uc003srs.1_Missense_Mutation_p.Q104K	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	104	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTTTTATCTTGGAAACCTTGG	0.443		NaN											1	0	7.48243e-07	0.006214	7.88417e-07	10	101				
NPC1L1	29881	broad.mit.edu	37	7	44556935	44556935	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:44556935T>C	uc003tlb.2	-	16	3295	c.3239A>G	c.(3238-3240)CAC>CGC	p.H1080R	NPC1L1_uc003tlc.2_Missense_Mutation_p.H1053R|NPC1L1_uc011kbw.1_Missense_Mutation_p.H1007R|NPC1L1_uc003tla.2_Missense_Mutation_p.H56R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1080	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CAGGGGCTTGTGATAGGCCAT	0.557		NaN											0	0	0	0.012319	0	20	49				
PPP1R9A	55607	broad.mit.edu	37	7	94540651	94540651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:94540651G>A	uc003unp.2	+	2	1508	c.1226G>A	c.(1225-1227)AGG>AAG	p.R409K	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kif.1_Missense_Mutation_p.R409K|PPP1R9A_uc003unq.2_Missense_Mutation_p.R409K|PPP1R9A_uc011kig.1_Missense_Mutation_p.R409K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	409						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGAGATCCAGGTATAATTCA	0.423		NaN								HNSCC(28;0.073)			0	0	0	0.00278	0	24	21				
ACN9	57001	broad.mit.edu	37	7	96810409	96810409	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:96810409A>G	uc003uoo.3	+	2	1391	c.260A>G	c.(259-261)GAA>GGA	p.E87G		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	ACN9 homolog precursor	87					regulation of gluconeogenesis	mitochondrial intermembrane space					0	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTCCTCCCAGAAGAAAAACTT	0.388		NaN											0	0	0	0.005524	0	38	24				
TECPR1	25851	broad.mit.edu	37	7	97863074	97863074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:97863074G>A	uc003upg.2	-	11	1536	c.1331C>T	c.(1330-1332)TCA>TTA	p.S444L	TECPR1_uc003uph.1_Missense_Mutation_p.S374L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	444						integral to membrane	protein binding			pancreas(1)	1						GCCTGAGGCTGAGTTCCCTGT	0.647		NaN											0	0	0	0.00308	0	6	7				
LRCH4	4034	broad.mit.edu	37	7	100172746	100172746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:100172746C>G	uc003uvj.2	-	18	2089	c.2036G>C	c.(2035-2037)CGG>CCG	p.R679P	uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	679					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCAGGAGCCGAGTGTAGGT	0.637		NaN											0	0	0	0.004672	0	3	14				
LRRC17	10234	broad.mit.edu	37	7	102574512	102574512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:102574512G>A	uc003vau.2	+	2	541	c.152G>A	c.(151-153)GGC>GAC	p.G51D	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.G51D	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	51					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						TACGCACCAGGCCTCCCGTGT	0.542		NaN											0	0	0	0.001168	0	6	31				
PTPRZ1	5803	broad.mit.edu	37	7	121650516	121650516	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:121650516G>A	uc003vjy.2	+	12	1811	c.1416G>A	c.(1414-1416)ACG>ACA	p.T472T	PTPRZ1_uc003vjz.2_Silent_p.T472T|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	472	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GCATAGGGACGAAATACAATG	0.433		NaN											0	0	0	0.00361	0	42	32				
SPAM1	6677	broad.mit.edu	37	7	123599683	123599683	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:123599683A>G	uc003vld.2	+	6	1592	c.1190A>G	c.(1189-1191)TAT>TGT	p.Y397C	SPAM1_uc003vle.2_Missense_Mutation_p.Y397C|SPAM1_uc011koa.1_Missense_Mutation_p.Y53C|SPAM1_uc003vlf.3_Missense_Mutation_p.Y397C|SPAM1_uc010lku.2_Missense_Mutation_p.Y397C	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	397					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	TCAAGTGACTATCTTCACCTC	0.418		NaN											0	0	0	0.008871	0	18	38				
LRGUK	136332	broad.mit.edu	37	7	133884160	133884160	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:133884160G>A	uc003vrm.1	+	14	1750	c.1734G>A	c.(1732-1734)GAG>GAA	p.E578E		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	578	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						ATTTTGATGAGGTAATCAATG	0.318		NaN											0	0	0	0.004656	0	24	87				
HIPK2	28996	broad.mit.edu	37	7	139299121	139299121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:139299121C>T	uc003vvf.3	-	8	2075	c.1901G>A	c.(1900-1902)AGC>AAC	p.S634N	HIPK2_uc003vvd.3_Missense_Mutation_p.S607N	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	634	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CAGGGGCATGCTCCGCTGGGC	0.577		NaN											0	0	0	0.004672	0	3	11				
TPK1	27010	broad.mit.edu	37	7	144320258	144320258	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:144320258C>T	uc003weq.2	-	6	457	c.354_splice	c.e6+1	p.K118_splice	TPK1_uc003weo.2_Splice_Site_p.K113_splice|TPK1_uc003wep.2_Splice_Site|TPK1_uc003wer.2_Splice_Site_p.K118_splice|TPK1_uc003wes.2_Splice_Site	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	GTATATATTACCTTTAAGTCT	0.328		NaN											0	0	0	0.00361	0	62	64				
LPL	4023	broad.mit.edu	37	8	19818562	19818562	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:19818562G>A	uc003wzk.3	+	8	1660	c.1290G>A	c.(1288-1290)AAG>AAA	p.K430K		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	430	PLAT.|Heparin-binding (By similarity).				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCATTCAGAAGATCAGAGTAA	0.428		NaN											0	0	0	0.00278	0	21	16				
EIF4EBP1	1978	broad.mit.edu	37	8	37914710	37914710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:37914710G>A	uc003xks.2	+	2	329	c.257G>A	c.(256-258)AGT>AAT	p.S86N		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E	86					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol					0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				AGCCCTTCCAGTGATGAGCCC	0.602		NaN											0	0	0	0.003163	0	14	34				
RP1	6101	broad.mit.edu	37	8	55541521	55541521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:55541521G>T	uc003xsd.1	+	4	5227	c.5079G>T	c.(5077-5079)TTG>TTT	p.L1693F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1693					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATCTATGTTGCAGGAATTCC	0.403		NaN											1	0	4.11147e-13	0.003755	4.57802e-13	38	236				
CLVS1	157807	broad.mit.edu	37	8	62366715	62366715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:62366715C>G	uc003xuh.2	+	4	970	c.646C>G	c.(646-648)CGC>GGC	p.R216G	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.R216G	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	216	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						CTTTCCTGCCCGCTTTGGAGG	0.493		NaN											0	0	0	0.00361	0	179	117				
CRH	1392	broad.mit.edu	37	8	67089287	67089287	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:67089287G>A	uc003xvy.1	-	2	611	c.426C>T	c.(424-426)GGC>GGT	p.G142G		NM_000756	NP_000747	P06850	CRF_HUMAN	corticotropin releasing hormone precursor	142					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCTGGTGGCCGCCGAGGGCAT	0.667		NaN									OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	10				
SULF1	23213	broad.mit.edu	37	8	70539485	70539485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:70539485G>A	uc010lza.1	+	16	2608	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K	SULF1_uc003xyd.2_Missense_Mutation_p.E631K|SULF1_uc003xye.2_Missense_Mutation_p.E631K|SULF1_uc003xyf.2_Missense_Mutation_p.E631K|SULF1_uc003xyg.2_Missense_Mutation_p.E631K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	631					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGTGAGAGAGAACTGTACCA	0.388		NaN											0	0	0	0.00361	0	69	48				
ZFHX4	79776	broad.mit.edu	37	8	77763236	77763236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:77763236G>T	uc003yav.2	+	10	4331	c.3944G>T	c.(3943-3945)TGG>TTG	p.W1315L	ZFHX4_uc003yau.1_Missense_Mutation_p.W1360L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W1315L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCAGAATGGAATAAAAAT	0.423		NaN								HNSCC(33;0.089)			1	0	1.06961e-07	0.00308	1.14238e-07	8	33				
VPS13B	157680	broad.mit.edu	37	8	100146891	100146891	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:100146891A>G	uc003yiv.2	+	9	1349	c.1238A>G	c.(1237-1239)TAC>TGC	p.Y413C	VPS13B_uc003yiw.2_Missense_Mutation_p.Y413C|VPS13B_uc003yit.2_Missense_Mutation_p.Y413C|VPS13B_uc003yiu.1_Missense_Mutation_p.Y413C|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	413					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTAGTTATTACAGTCCACAG	0.274		NaN											0	0	0	0.002836	0	32	124				
MAF1	84232	broad.mit.edu	37	8	145161270	145161270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:145161270C>A	uc003zbc.1	+	5	904	c.403C>A	c.(403-405)CTG>ATG	p.L135M	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	135					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACTGCAGTCTGTTCTCAGC	0.582		NaN											1	0	6.38683e-12	0.008361	7.03672e-12	30	15				
SMARCA2	6595	broad.mit.edu	37	9	2086985	2086985	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:2086985C>G	uc003zhc.2	+	18	2782	c.2683C>G	c.(2683-2685)CTC>GTC	p.L895V	SMARCA2_uc003zhd.2_Missense_Mutation_p.L895V|SMARCA2_uc010mha.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	895	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGGGCCCTCCTCAACTTCCT	0.507		NaN											0	0	0	0.00361	0	75	13		Valid		
INSL4	3641	broad.mit.edu	37	9	5231710	5231710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:5231710C>T	uc003ziy.2	+	1	292	c.187C>T	c.(187-189)CGT>TGT	p.R63C		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	63					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGAATCTGGACGTCCCAAAGG	0.517		NaN											0	0	0	0.002299	0	22	7				
KIAA1045	23349	broad.mit.edu	37	9	34976675	34976675	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:34976675A>G	uc003zvq.2	+	5	965	c.787A>G	c.(787-789)ATA>GTA	p.I263V	KIAA1045_uc003zvr.2_Missense_Mutation_p.I263V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	263							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCGAGGCCACATAGAGTGGCC	0.622		NaN											0	0	0	0.00361	0	66	60				
TMOD1	7111	broad.mit.edu	37	9	100326379	100326379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100326379G>C	uc004axk.1	+	6	760	c.547G>C	c.(547-549)GTA>CTA	p.V183L	TMOD1_uc004axl.1_Missense_Mutation_p.V183L	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	183					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTCAACAGACGTAGAGGAAAC	0.443		NaN											0	0	0	0.012319	0	17	22				
TSTD2	158427	broad.mit.edu	37	9	100367863	100367863	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100367863C>T	uc004axn.2	-	8	1503	c.1015G>A	c.(1015-1017)GTT>ATT	p.V339I	TSTD2_uc004axo.2_Missense_Mutation_p.V113I|TSTD2_uc004axp.1_Missense_Mutation_p.V113I	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	339	Rhodanese.									ovary(2)	2						TTTTTGTCAACGTAGCTAGGG	0.463		NaN											0	0	0	0.003271	0	36	77				
CDK5RAP2	55755	broad.mit.edu	37	9	123232480	123232480	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:123232480T>C	uc004bkf.2	-	17	2058	c.1877A>G	c.(1876-1878)TAT>TGT	p.Y626C	CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Y626C|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Y625C|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Y425C	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	626					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						TTGATCACTATAAAGTGAAAA	0.363		NaN											0	0	0	0.001984	0	7	19				
SPTAN1	6709	broad.mit.edu	37	9	131329130	131329130	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:131329130T>C	uc004bvl.3	+	2	224	c.111T>C	c.(109-111)CGT>CGC	p.R37R	SPTAN1_uc011mbg.1_Silent_p.R37R|SPTAN1_uc011mbh.1_Silent_p.R49R|SPTAN1_uc004bvm.3_Silent_p.R37R|SPTAN1_uc004bvn.3_Silent_p.R37R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	37	Spectrin 1.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCCTTAGGCGTCAGAAGCTGG	0.493		NaN											0	0	0	0.00361	0	72	55				
MSL3	10943	broad.mit.edu	37	X	11783848	11783848	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:11783848A>G	uc004cuw.2	+	9	1276	c.1171A>G	c.(1171-1173)AAG>GAG	p.K391E	MSL3_uc004cuv.1_Missense_Mutation_p.S391G|MSL3_uc004cux.2_Missense_Mutation_p.K332E|MSL3_uc011mig.1_Missense_Mutation_p.K242E|MSL3_uc011mih.1_Missense_Mutation_p.K379E|MSL3_uc004cuy.2_Missense_Mutation_p.K225E	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	391					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTGGAAAAGAGTAGGTTCAT	0.582		NaN											0	0	0	0.006999	0	39	39				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.006122	0	13	9		Valid		
VSIG4	11326	broad.mit.edu	37	X	65242174	65242174	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:65242174G>A	uc004dwh.2	-	8	1258	c.1131C>T	c.(1129-1131)TAC>TAT	p.Y377Y	VSIG4_uc004dwi.2_Silent_p.Y283Y|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	377	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						GCAGGCGGGCGTAGTTGCCAT	0.517		NaN											0	0	0	0.00308	0	7	14				
OGT	8473	broad.mit.edu	37	X	70784470	70784470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:70784470C>T	uc004eaa.1	+	19	2673	c.2456C>T	c.(2455-2457)ACT>ATT	p.T819I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T809I|OGT_uc004eac.2_Missense_Mutation_p.T680I|OGT_uc004ead.2_Missense_Mutation_p.T438I	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	819					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					AAGGCTGCAACTGGAGAGGAG	0.368		NaN											0	0	0	0.006122	0	15	14				
TAF7L	54457	broad.mit.edu	37	X	100532627	100532627	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:100532627T>A	uc004ehb.2	-	9	928	c.916A>T	c.(916-918)ATG>TTG	p.M306L	TAF7L_uc004eha.2_Missense_Mutation_p.M220L|TAF7L_uc004ehc.1_Missense_Mutation_p.M220L	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	306					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TGGCTGCTCATTCCCGAGGAT	0.458		NaN											0	0	0	0.00361	0	69	38				
GPR112	139378	broad.mit.edu	37	X	135428141	135428141	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:135428141T>G	uc004ezu.1	+	6	2567	c.2276T>G	c.(2275-2277)TTA>TGA	p.L759*	GPR112_uc010nsb.1_Nonsense_Mutation_p.L554*|GPR112_uc010nsc.1_Nonsense_Mutation_p.L526*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	759	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTTACCACTTTACTACTAAAA	0.358		NaN											0	0	0	0.00333	0	23	25				
MYSM1	114803	broad.mit.edu	37	1	59156029	59156029	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:59156029A>T	uc009wab.1	-	4	302	c.279T>A	c.(277-279)GAT>GAA	p.D93E	MYSM1_uc001czc.2_RNA|MYSM1_uc001czd.2_Missense_Mutation_p.D93E	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	93					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TGTATTTTTTATCATCTTCCT	0.274		NaN											0	0	0	0.004878	0	36	36				
RBM15	64783	broad.mit.edu	37	1	110882341	110882341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:110882341G>A	uc001dzl.1	+	1	397	c.314G>A	c.(313-315)AGT>AAT	p.S105N	RBM15_uc001dzm.1_Missense_Mutation_p.S105N|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	105	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGTCCAGCAGTCGAGGTGGC	0.622		NaN	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	16				
WDR3	10885	broad.mit.edu	37	1	118476014	118476014	+	Silent	SNP	T	T	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:118476014T>G	uc010oxe.1	+	2	138	c.72T>G	c.(70-72)GGT>GGG	p.G24G	WDR3_uc001ehi.2_Splice_Site|WDR3_uc001ehh.2_Splice_Site	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	24	WD 1.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCCAAAAAGGTAATATTGTCT	0.478		NaN											0	0	0	0.00245	0	8	47				
BCL9	607	broad.mit.edu	37	1	147092477	147092477	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:147092477G>T	uc001epq.2	+	8	3256	c.2516G>T	c.(2515-2517)CGC>CTC	p.R839L	BCL9_uc010ozr.1_Missense_Mutation_p.R765L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	839	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCAGTTCAGCGCGGCCTGGGG	0.592		NaN	T	IGH@|IGL@	B-ALL								1	0	2.47316e-13	0.003271	2.75032e-13	27	54				
LCE3D	84648	broad.mit.edu	37	1	152552220	152552220	+	Missense_Mutation	SNP	G	G	A	rs147417899	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:152552220G>A	uc001fab.2	-	2	250	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	65					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCCTCTGGCGCCGGCATCGG	0.682		NaN											0	0	0	0.013114	0	42	61				
NUP210L	91181	broad.mit.edu	37	1	153998026	153998026	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:153998026C>A	uc001fdw.2	-	30	4186	c.4114G>T	c.(4114-4116)GGG>TGG	p.G1372W	NUP210L_uc009woq.2_Missense_Mutation_p.G281W|NUP210L_uc010peh.1_Missense_Mutation_p.G1372W	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1372						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCTGGACCCCAGTTATGGTT	0.383		NaN											1	0	3.86212e-05	0.008291	4.08372e-05	10	244				
KIRREL	55243	broad.mit.edu	37	1	158064739	158064739	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:158064739C>T	uc001frn.3	+	15	2507	c.2103C>T	c.(2101-2103)TAC>TAT	p.Y701Y	KIRREL_uc010pib.1_Silent_p.Y601Y|KIRREL_uc009wsq.2_Silent_p.Y537Y|KIRREL_uc001fro.3_Silent_p.Y515Y|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	701	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGGGTACCCCACCTACC	0.632		NaN											0	0	0	0.006122	0	16	28				
SLC9A11	284525	broad.mit.edu	37	1	173499145	173499145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:173499145G>A	uc001giz.2	-	18	2635	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	SLC9A11_uc009wwe.2_Missense_Mutation_p.R296C|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	738					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAGCTGAGGCGCTTTTTGATC	0.323		NaN											0	0	0	0.008361	0	30	23				
RYR2	6262	broad.mit.edu	37	1	237947439	237947439	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:237947439A>G	uc001hyl.1	+	90	12547	c.12427A>G	c.(12427-12429)AAA>GAA	p.K4143E	RYR2_uc010pya.1_Missense_Mutation_p.K558E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4143					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGAAGCGCCAAACGCATCGA	0.502		NaN											0	0	0	0.006122	0	18	24				
TAF5	6877	broad.mit.edu	37	10	105128037	105128037	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:105128037A>G	uc001kwv.2	+	1	314	c.291A>G	c.(289-291)CTA>CTG	p.L97L	TAF5_uc010qqq.1_Silent_p.L97L	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	97	LisH.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GACAGACTCTACTGGCCGTGC	0.562		NaN											0	0	0	0.009096	0	4	3				
SEC23IP	11196	broad.mit.edu	37	10	121685711	121685711	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:121685711A>T	uc001leu.1	+	13	2357	c.2285A>T	c.(2284-2286)TAT>TTT	p.Y762F	SEC23IP_uc010qtc.1_Missense_Mutation_p.Y551F|SEC23IP_uc009xzk.1_RNA	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	762					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGTGAATTATGAATCTTTT	0.443		NaN											0	0	0	0.012213	0	31	37				
WDR11	55717	broad.mit.edu	37	10	122619733	122619733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr10:122619733G>C	uc010qtf.1	+	4	703	c.465G>C	c.(463-465)AAG>AAC	p.K155N	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	155						integral to membrane					0						TATGGAAGAAGAGCTATGCAG	0.418		NaN											0	0	0	0.007291	0	29	36				
OR51D1	390038	broad.mit.edu	37	11	4661919	4661919	+	Missense_Mutation	SNP	A	A	C	rs141098080	byFrequency	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:4661919A>C	uc010qyk.1	+	1	899	c.899A>C	c.(898-900)AAC>ACC	p.N300T		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	300	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTAGTCAACCCCCTTGTC	0.532		NaN											0	0	0	0.001168	0	4	71				
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:55405931A>G	uc010rij.1	+	1	98	c.98A>G	c.(97-99)TAC>TGC	p.Y33C		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TTGTTTTGCTACATTGCTATT	0.363		NaN											0	0	0	0.007413	0	20	7				
CEP164	22897	broad.mit.edu	37	11	117253629	117253629	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:117253629C>T	uc001prc.2	+	14	1842	c.1695C>T	c.(1693-1695)GTC>GTT	p.V565V	CEP164_uc001prb.2_Silent_p.V568V|CEP164_uc010rxk.1_Silent_p.V539V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	565	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGTGGCGGTCAGCCCCACCC	0.622		NaN											0	0	0	0.010729	0	10	20				
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr11:119025544C>T	uc001pvs.2	+	6	941	c.605C>T	c.(604-606)TCT>TTT	p.S202F	ABCG4_uc009zar.2_Missense_Mutation_p.S202F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	202	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622		NaN											0	0	0	0.01441	0	64	90				
KRT84	3890	broad.mit.edu	37	12	52777464	52777464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:52777464C>T	uc001sah.1	-	2	713	c.665G>A	c.(664-666)CGG>CAG	p.R222Q		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	222	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACTGCCTCCGCAGGTTGGT	0.542		NaN											0	0	0	0.01441	0	66	75				
HNRNPA1	3178	broad.mit.edu	37	12	54675636	54675636	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:54675636A>G	uc001sfl.2	+	3	294	c.190A>G	c.(190-192)ACT>GCT	p.T64A	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zng.2_Missense_Mutation_p.T64A|HNRNPA1_uc009znh.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zni.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfn.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.T19A|HNRNPA1_uc009znj.1_Missense_Mutation_p.T19A	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	64	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						CACATATGCCACTGTGGAGGA	0.483		NaN											0	0	0	0.01441	0	50	49				
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:56478854G>T	uc001sjh.2	+	3	503	c.310G>T	c.(310-312)GTG>TTG	p.V104L	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517		NaN											1	0	3.60193e-44	0.01441	4.42522e-44	94	135		Valid		
STAC3	246329	broad.mit.edu	37	12	57637894	57637894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:57637894G>A	uc001snp.2	-	11	1168	c.973C>T	c.(973-975)CAG>TAG	p.Q325*	STAC3_uc009zpl.2_Missense_Mutation_p.A42V|STAC3_uc001snq.2_Nonsense_Mutation_p.Q286*|STAC3_uc010srm.1_Nonsense_Mutation_p.Q139*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	325	SH3 2.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						AGAGTGATCTGCCCTATCTCG	0.562		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014323	0	20	30				
NR2C1	7181	broad.mit.edu	37	12	95434302	95434302	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr12:95434302C>A	uc001tdm.3	-	10	1459	c.1203G>T	c.(1201-1203)CTG>CTT	p.L401L	NR2C1_uc010suu.1_Silent_p.L401L|NR2C1_uc001tdo.3_Silent_p.L401L|NR2C1_uc001tdn.3_Silent_p.L401L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	401					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						TTGATAAGAACAGCAGTCTGG	0.423		NaN											1	0	9.65021e-13	0.010818	1.064e-12	32	40				
FREM2	341640	broad.mit.edu	37	13	39420751	39420751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:39420751G>A	uc001uwv.2	+	7	6370	c.6061G>A	c.(6061-6063)GAG>AAG	p.E2021K	FREM2_uc001uww.2_Missense_Mutation_p.E107K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2021	Extracellular (Potential).|Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTGGATGAGAGTGCTGG	0.433		NaN											0	0	0	0.010729	0	11	19				
LPAR6	10161	broad.mit.edu	37	13	48986079	48986079	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr13:48986079C>G	uc010acu.2	-	1	1575	c.481G>C	c.(481-483)GGT>CGT	p.G161R	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.G161R|LPAR6_uc001vcf.2_Missense_Mutation_p.G161R	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	161	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GCATTGTTACCCTGAGAGTGG	0.363		NaN											0	0	0	0.000602	0	5	5				
MYH7	4625	broad.mit.edu	37	14	23897051	23897051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr14:23897051G>A	uc001wjx.2	-	16	1737	c.1631C>T	c.(1630-1632)ACC>ATC	p.T544I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	544	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGTCATGTCGGTGGCCTTGGG	0.552		NaN											0	0	0	0.00623	0	40	67				
EHD4	30844	broad.mit.edu	37	15	42211817	42211817	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr15:42211817T>C	uc001zot.2	-	4	578	c.515A>G	c.(514-516)TAT>TGT	p.Y172C		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	172					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCAGAAGTCATAGCCTGGGTG	0.562		NaN											0	0	0	0.014323	0	20	22				
TSC2	7249	broad.mit.edu	37	16	2121804	2121804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:2121804G>T	uc002con.2	+	19	2072	c.1966G>T	c.(1966-1968)GAG>TAG	p.E656*	TSC2_uc010bsd.2_Nonsense_Mutation_p.E656*|TSC2_uc002coo.2_Nonsense_Mutation_p.E656*|TSC2_uc010uvv.1_Nonsense_Mutation_p.E619*|TSC2_uc010uvw.1_Nonsense_Mutation_p.E607*|TSC2_uc002cop.2_Nonsense_Mutation_p.E456*	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	656					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GAGAGGCTCTGAGAAGAAGAC	0.667		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				1	0	0.000602214	0.000602	0.000631591	5	12				
XPO6	23214	broad.mit.edu	37	16	28112860	28112860	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:28112860G>A	uc002dpa.1	-	23	3696	c.3195C>T	c.(3193-3195)TTC>TTT	p.F1065F	XPO6_uc002dpb.1_Silent_p.F1051F|XPO6_uc010vcp.1_Silent_p.F1064F	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	1065					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						ACTCTGGGAGGAAGGCGGCAA	0.542		NaN											0	0	0	0.013726	0	34	51				
NETO2	81831	broad.mit.edu	37	16	47163140	47163140	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:47163140A>G	uc002eer.1	-	3	612	c.227T>C	c.(226-228)TTG>TCG	p.L76S	NETO2_uc010vgf.1_5'Flank|NETO2_uc002ees.1_Missense_Mutation_p.L76S	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	76	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AATACCTTCCAAAATGTAGAT	0.348		NaN								HNSCC(25;0.065)			0	0	0	0.013114	0	44	60				
SF3B3	23450	broad.mit.edu	37	16	70594445	70594445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:70594445G>A	uc002ezf.2	+	16	2295	c.2084G>A	c.(2083-2085)GGG>GAG	p.G695E		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	695					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CGGTACCTGGGGTCCCGTCCT	0.532		NaN											0	0	0	0.01441	0	47	49				
CDH13	1012	broad.mit.edu	37	16	83636094	83636094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr16:83636094G>C	uc002fgx.2	+	8	1116	c.996G>C	c.(994-996)GAG>GAC	p.E332D	CDH13_uc010vns.1_Missense_Mutation_p.E379D|CDH13_uc010vnt.1_Missense_Mutation_p.E78D|CDH13_uc010vnu.1_Missense_Mutation_p.E293D	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	332	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGATCATCGAGGCTCAAGATA	0.418		NaN											0	0	0	0.01441	0	55	102				
CARD14	79092	broad.mit.edu	37	17	78166305	78166305	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:78166305A>G	uc002jxw.1	+	9	1438	c.1243A>G	c.(1243-1245)AAG>GAG	p.K415E	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.K415E|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.K178E|CARD14_uc010dhu.1_Missense_Mutation_p.K213E	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	415					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTGGCAGCTCAAGCAGGAAGC	0.607		NaN											0	0	0	0.006999	0	31	59				
AATK	9625	broad.mit.edu	37	17	79095182	79095182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:79095182C>T	uc010dia.2	-	11	2634	c.2554G>A	c.(2554-2556)GAG>AAG	p.E852K	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	852						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCTCCACCTCGGGAGAGCTG	0.667		NaN											0	0	0	0.008291	0	11	6				
LAMA1	284217	broad.mit.edu	37	18	6961676	6961676	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:6961676A>C	uc002knm.2	-	53	7629	c.7535T>G	c.(7534-7536)GTA>GGA	p.V2512G	LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.V1988G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2512	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAAATGTTACCAGCCATTC	0.552		NaN											0	0	0	0.006214	0	4	20				
FAM59A	64762	broad.mit.edu	37	18	29867460	29867460	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr18:29867460T>A	uc002kxl.2	-	4	1156	c.1100A>T	c.(1099-1101)CAC>CTC	p.H367L	FAM59A_uc002kxk.1_Missense_Mutation_p.H367L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	367										ovary(1)|skin(1)	2						ATTGGGCACGTGGTTGTGGCC	0.552		NaN											0	0	0	0.003271	0	31	42				
PIP5K1C	23396	broad.mit.edu	37	19	3664824	3664824	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:3664824T>C	uc002lyj.1	-	3	272	c.215A>G	c.(214-216)AAG>AGG	p.K72R	PIP5K1C_uc010xhq.1_Missense_Mutation_p.K72R|PIP5K1C_uc010xhr.1_Missense_Mutation_p.K72R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	72					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGAACCTTCTTGTAGGTGGT	0.642		NaN											0	0	0	0.01441	0	66	91				
MUC16	94025	broad.mit.edu	37	19	9063340	9063340	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:9063340C>T	uc002mkp.2	-	3	24310	c.24106G>A	c.(24106-24108)GAA>AAA	p.E8036K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8038	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCAGTATTTCAACTGAGGTG	0.463		NaN											0	0	0	0.005443	0	25	49				
DCAF15	90379	broad.mit.edu	37	19	14070852	14070852	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14070852C>T	uc002mxt.2	+	10	1503	c.1497C>T	c.(1495-1497)TTC>TTT	p.F499F	DCAF15_uc002mxu.2_RNA	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	499										central_nervous_system(1)	1						TCCTGGCCTTCCCGTCCCCCA	0.657		NaN									OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004656	0	24	25				
TSHZ3	57616	broad.mit.edu	37	19	31770348	31770348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:31770348C>A	uc002nsy.3	-	2	416	c.351G>T	c.(349-351)CAG>CAT	p.Q117H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	117					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CGGCCTTCATCTGCTCCAGGC	0.507		NaN											1	0	1.00001e-27	0.009718	1.21699e-27	42	50				
SUPT5H	6829	broad.mit.edu	37	19	39950550	39950550	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:39950550A>T	uc002olo.3	+	10	753	c.574A>T	c.(574-576)ACG>TCG	p.T192S	SUPT5H_uc002olp.3_Missense_Mutation_p.T192S|SUPT5H_uc002olq.3_Missense_Mutation_p.T188S|SUPT5H_uc002oln.3_Missense_Mutation_p.T192S|SUPT5H_uc002olr.3_Missense_Mutation_p.T192S	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	192	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAACGGGCCACGGCCATTTC	0.547		NaN											0	0	0	0.005443	0	26	53				
IRGC	56269	broad.mit.edu	37	19	44222905	44222905	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:44222905G>A	uc002oxh.2	+	2	342	c.195G>A	c.(193-195)GCG>GCA	p.A65A		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	65	GTP.					membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				AGTCGGGCGCGGGCAAGTCCT	0.701		NaN											0	0	0	0.009096	0	4	77				
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:49558229T>C	uc002pmd.2	-	2	417	c.52A>G	c.(52-54)ACA>GCA	p.T18A	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A.		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GATGCCCATGTCCCGCCCATG	0.657		NaN											0	0	0	0.004482	0	5	67				
KIR3DL1	3811	broad.mit.edu	37	19	55377274	55377274	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:55377274C>T	uc002qhl.3	+	7	1078	c.1015C>T	c.(1015-1017)CTG>TTG	p.L339L	KIR3DL2_uc010esh.2_Silent_p.L322L|KIR3DL2_uc002qho.3_Silent_p.L339L			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	339	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		CTGCAGACACCTGCATGTTCT	0.353		NaN											0	0	0	0.01441	0	44	60				
TPO	7173	broad.mit.edu	37	2	1500391	1500391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:1500391G>A	uc002qww.2	+	13	2331	c.2240G>A	c.(2239-2241)AGC>AAC	p.S747N	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S690N|TPO_uc002qwr.2_Missense_Mutation_p.S747N|TPO_uc002qwx.2_Missense_Mutation_p.S690N|TPO_uc010yio.1_Missense_Mutation_p.S574N|TPO_uc010yip.1_Missense_Mutation_p.S747N|TPO_uc002qwy.1_Missense_Mutation_p.S87N|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	747	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCCAGAGAGCGTGGAGAAT	0.557		NaN											0	0	0	0.001168	0	6	102				
ATAD2B	54454	broad.mit.edu	37	2	23980429	23980429	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:23980429G>C	uc002rek.3	-	25	4231	c.3937C>G	c.(3937-3939)CAG>GAG	p.Q1313E	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.Q553E|ATAD2B_uc002rej.3_Missense_Mutation_p.Q481E	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1313							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTTGACTGGTCCTCCAGA	0.383		NaN											0	0	0	0.00333	0	25	34				
PLEK	5341	broad.mit.edu	37	2	68607901	68607901	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:68607901A>G	uc002sen.3	+	3	407	c.245A>G	c.(244-246)CAG>CGG	p.Q82R	PLEK_uc010fde.2_Missense_Mutation_p.Q82R	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	82	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CACTTCTTCCAGGCAGCCTTC	0.468		NaN											0	0	0	0.011902	0	41	58				
FBLN7	129804	broad.mit.edu	37	2	112944789	112944789	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:112944789C>A	uc002tho.1	+	8	1297	c.1026C>A	c.(1024-1026)CTC>CTA	p.L342L	FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.L296L|FBLN7_uc010fkj.1_Silent_p.L208L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	342					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TCCATTACCTCTCTCTGCCTT	0.642		NaN											1	0	7.05377e-20	0.01441	8.27215e-20	48	71				
TTN	7273	broad.mit.edu	37	2	179410748	179410748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179410748C>T	uc010zfg.1	-	292	87735	c.87511G>A	c.(87511-87513)GAA>AAA	p.E29171K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22866K|TTN_uc010zfi.1_Missense_Mutation_p.E22799K|TTN_uc010zfj.1_Missense_Mutation_p.E22674K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30098							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGATTTCTGCTCCTCCG	0.532		NaN											0	0	0	0.008871	0	18	16				
TTN	7273	broad.mit.edu	37	2	179612398	179612398	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179612398A>G	uc002unb.2	-	46	14953	c.14729T>C	c.(14728-14730)CTT>CCT	p.L4910P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCAGCAAGTAAATATTG	0.413		NaN											0	0	0	0.006214	0	9	22				
TTN	7273	broad.mit.edu	37	2	179656911	179656911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:179656911G>A	uc010zfg.1	-	10	1774	c.1550C>T	c.(1549-1551)ACT>ATT	p.T517I	TTN_uc010zfh.1_Missense_Mutation_p.T517I|TTN_uc010zfi.1_Missense_Mutation_p.T517I|TTN_uc010zfj.1_Missense_Mutation_p.T517I|TTN_uc002unb.2_Missense_Mutation_p.T517I|TTN_uc010frg.1_Missense_Mutation_p.T191I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTTTCAGTTTCTTTTCT	0.279		NaN											0	0	0	0.006122	0	17	23				
C2orf67	151050	broad.mit.edu	37	2	210962866	210962866	+	Silent	SNP	T	T	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:210962866T>G	uc002vds.2	-	5	1702	c.1494A>C	c.(1492-1494)TCA>TCC	p.S498S	C2orf67_uc002vdt.2_Silent_p.S498S|C2orf67_uc002vdw.2_Silent_p.S498S|C2orf67_uc002vdv.2_Silent_p.S498S|C2orf67_uc002vdx.1_Silent_p.S498S	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	498										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAGAGAGGGGTGATGAAGTTG	0.423		NaN											0	0	0	0.004482	0	4	17				
TMC2	117532	broad.mit.edu	37	20	2542536	2542536	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:2542536G>T	uc002wgf.1	+	4	449	c.434G>T	c.(433-435)GGG>GTG	p.G145V	TMC2_uc002wgg.1_Missense_Mutation_p.G129V|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	145	Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						GCCTCTGGTGGGGAGTCCCTG	0.617		NaN											1	0	1.7489e-18	0.011902	2.01436e-18	43	55				
ZBTB46	140685	broad.mit.edu	37	20	62421844	62421844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr20:62421844G>C	uc002ygv.1	-	2	468	c.267C>G	c.(265-267)TTC>TTG	p.F89L	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGAGTACATGAAGTCGATGA	0.612		NaN											0	0	0	0.007413	0	19	37				
LMF2	91289	broad.mit.edu	37	22	50943119	50943119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr22:50943119C>G	uc003blp.2	-	11	1506	c.1475G>C	c.(1474-1476)CGG>CCG	p.R492P	LMF2_uc010hba.2_Missense_Mutation_p.R314P|LMF2_uc003blo.2_Missense_Mutation_p.R467P	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	492						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGGCGGCCGGCTCAGGTT	0.692		NaN											0	0	0	0.014323	0	21	29				
LMCD1	29995	broad.mit.edu	37	3	8543629	8543629	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8543629C>A	uc003bqq.2	+	1	119	c.5C>A	c.(4-6)GCA>GAA	p.A2E	uc003bqp.2_5'Flank|LMCD1_uc011atd.1_5'UTR|LMCD1_uc011ate.1_5'UTR	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	2					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AAGAGGATGGCAAAGGTGGCT	0.572		NaN											1	0	4.4004e-07	0.00333	4.69134e-07	21	50				
RAD18	56852	broad.mit.edu	37	3	8988964	8988964	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:8988964T>C	uc003brd.2	-	4	283	c.206A>G	c.(205-207)GAG>GGG	p.E69G	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	69					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAGATCCGGCTCTGTGACAGT	0.343		NaN						Rad6_pathway					0	0	0	0.009718	0	44	68				
EXOG	9941	broad.mit.edu	37	3	38565704	38565704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38565704C>T	uc003cih.2	+	6	1054	c.958C>T	c.(958-960)CGA>TGA	p.R320*	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Nonsense_Mutation_p.R270*|EXOG_uc003cij.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhd.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhe.2_Nonsense_Mutation_p.R180*|EXOG_uc003cik.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhf.2_Nonsense_Mutation_p.R180*|EXOG_uc003cii.2_Nonsense_Mutation_p.R180*	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	320						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						TGAAGGAGCCCGATCAGTGCT	0.423		NaN											0	0	0	0.01441	0	62	115				
SCN5A	6331	broad.mit.edu	37	3	38639411	38639411	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:38639411C>T	uc003cio.2	-	14	2265	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	SCN5A_uc003cin.2_Missense_Mutation_p.A691T|SCN5A_uc003cil.3_Missense_Mutation_p.A691T|SCN5A_uc010hhi.2_Missense_Mutation_p.A691T|SCN5A_uc010hhk.2_Missense_Mutation_p.A691T|SCN5A_uc011ayr.1_Missense_Mutation_p.A691T|SCN5A_uc010hhj.1_Missense_Mutation_p.A302T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	691					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TAGCGCTGGGCGAGACGGTTC	0.532		NaN											0	0	0	0.00499	0	15	79				
CACNA1D	776	broad.mit.edu	37	3	53756393	53756393	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53756393G>T	uc003dgv.3	+	12	1721	c.1558G>T	c.(1558-1560)GTG>TTG	p.V520L	CACNA1D_uc003dgu.3_Missense_Mutation_p.V540L|CACNA1D_uc003dgy.3_Missense_Mutation_p.V520L|CACNA1D_uc003dgw.3_Missense_Mutation_p.V187L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	520	Cytoplasmic (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAGGGCCGCCGTGAAGTCTGT	0.483		NaN											1	0	8.86878e-18	0.01441	1.01245e-17	44	31				
CACNA1D	776	broad.mit.edu	37	3	53837556	53837556	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:53837556A>G	uc003dgv.3	+	44	5705	c.5542A>G	c.(5542-5544)AGT>GGT	p.S1848G	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1868G|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1824G|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1515G|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1848	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTATTTCAGTAGTGAGGAATG	0.602		NaN											0	0	0	0.01441	0	123	125				
CADPS	8618	broad.mit.edu	37	3	62739249	62739249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:62739249C>T	uc003dll.2	-	3	1115	c.755G>A	c.(754-756)CGG>CAG	p.R252Q	CADPS_uc003dlm.2_Missense_Mutation_p.R252Q|CADPS_uc003dln.2_Missense_Mutation_p.R252Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	252					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGCTGCTTCCGCGGGTCCTC	0.567		NaN											0	0	0	0.007413	0	19	23				
MORC1	27136	broad.mit.edu	37	3	108819338	108819338	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:108819338G>C	uc003dxl.2	-	5	327	c.240C>G	c.(238-240)ATC>ATG	p.I80M	MORC1_uc011bhn.1_Missense_Mutation_p.I80M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	80					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CAAAGTAAATGATGTCTGAAG	0.433		NaN											0	0	0	0.008361	0	29	50				
BCHE	590	broad.mit.edu	37	3	165548632	165548632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:165548632G>T	uc003fem.3	-	2	350	c.190C>A	c.(190-192)CCA>ACA	p.P64T	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	64					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CCAAGAGGTGGCTGTGCATAG	0.418		NaN											1	0	0.00307968	0.00308	0.00320386	8	9				
HRG	3273	broad.mit.edu	37	3	186394879	186394879	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:186394879C>A	uc003fqq.2	+	7	808	c.785C>A	c.(784-786)CCC>CAC	p.P262H		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	262					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTGGGACATCCCTTCCACTGG	0.468		NaN											1	0	2.52637e-11	0.005524	2.76188e-11	34	44				
C3orf43	255798	broad.mit.edu	37	3	196235134	196235134	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr3:196235134C>T	uc003fws.2	-	3	426	c.269G>A	c.(268-270)CGT>CAT	p.R90H	C3orf43_uc003fwr.2_Missense_Mutation_p.R82H	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	90						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		CTCAAGCACACGAGTATGCAA	0.423		NaN											0	0	0	0.01441	0	88	110				
FAM53A	152877	broad.mit.edu	37	4	1656882	1656882	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:1656882G>A	uc011bve.1	-	4	903	c.705C>T	c.(703-705)CCC>CCT	p.P235P	FAM53A_uc010ibw.2_Silent_p.P235P	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	235						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCCAGGGCAGGGGAGTGCCCG	0.741		NaN											0	0	0	0.013537	0	9	0				
PDGFRA	5156	broad.mit.edu	37	4	55130019	55130019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:55130019G>A	uc003han.3	+	4	884	c.553G>A	c.(553-555)GGG>AGG	p.G185R	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.G185R|PDGFRA_uc010igq.1_Missense_Mutation_p.G79R|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	185	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTCACTGTAGGGCCCTATAT	0.478		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00278	0	24	29				
KIAA1211	57482	broad.mit.edu	37	4	57182439	57182439	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:57182439C>A	uc003hbk.2	+	8	3162	c.2771C>A	c.(2770-2772)TCC>TAC	p.S924Y	KIAA1211_uc010iha.2_Missense_Mutation_p.S917Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.S834Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.S810Y	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	924										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCTGAACCTTCCAGCAGCCGC	0.647		NaN											1	0	1.22574e-08	0.014323	1.32874e-08	23	21				
PRKG2	5593	broad.mit.edu	37	4	82126123	82126123	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:82126123G>A	uc003hmh.2	-	1	93	c.79C>T	c.(79-81)CGG>TGG	p.R27W	PRKG2_uc011cch.1_Missense_Mutation_p.R27W	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	27					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						ACCTTGTTCCGCAGAGCATCA	0.527		NaN											0	0	0	0.010729	0	11	11				
CCNA2	890	broad.mit.edu	37	4	122740027	122740027	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:122740027G>C	uc003iec.3	-	6	1349	c.1044C>G	c.(1042-1044)CTC>CTG	p.L348L		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	348					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			ovary(1)	1						GCAAATACTTGAGGTATGGGT	0.388		NaN											0	0	0	0.003954	0	25	31				
TTC37	9652	broad.mit.edu	37	5	94858955	94858955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:94858955G>A	uc003klb.2	-	18	1978	c.1708C>T	c.(1708-1710)CGA>TGA	p.R570*	TTC37_uc010jbf.1_Nonsense_Mutation_p.R522*	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	570	TPR 9.						binding			ovary(3)|pancreas(1)	4						TATAGTCCTCGCCTAAGCCAG	0.393		NaN											0	0	0	0.010818	0	29	39				
PCDHB9	56127	broad.mit.edu	37	5	140567962	140567962	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:140567962C>T	uc003liw.1	+	1	1070	c.1070C>T	c.(1069-1071)GCT>GTT	p.A357V		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	357	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCTGTTGCTGAAAACTCT	0.388		NaN											0	0	0	0.005524	0	37	54				
PCDHGA12	26025	broad.mit.edu	37	5	140810424	140810424	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr5:140810424A>G	uc003lkt.1	+	1	267	c.98A>G	c.(97-99)TAT>TGT	p.Y33C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.Y33C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	33	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACGCTATTCAGTTCCG	0.627		NaN											0	0	0	0.01441	0	90	107				
SLC44A4	80736	broad.mit.edu	37	6	31842752	31842752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:31842752T>C	uc010jti.2	-	5	362	c.296A>G	c.(295-297)AAC>AGC	p.N99S	SLC44A4_uc011dol.1_Missense_Mutation_p.N23S|SLC44A4_uc011dom.1_Missense_Mutation_p.N99S	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	99	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	TGAGATGATGTTGCTGGACAG	0.577		NaN											0	0	0	0.01441	0	118	171				
TNXB	7148	broad.mit.edu	37	6	32024427	32024427	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:32024427C>T	uc003nzl.2	-	23	8281	c.8079G>A	c.(8077-8079)AAG>AAA	p.K2693K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2753	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACAGGTTCATCTTGTATTTAT	0.642		NaN											0	0	0	0.010504	0	17	21				
ITPR3	3710	broad.mit.edu	37	6	33639056	33639056	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:33639056A>T	uc011drk.1	+	21	2920	c.2701A>T	c.(2701-2703)ATG>TTG	p.M901L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	901	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCCCCCGGCCATGCTGCAGGC	0.632		NaN											0	0	0	0.007413	0	17	19				
PKHD1	5314	broad.mit.edu	37	6	51497481	51497481	+	Silent	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497481C>T	uc003pah.1	-	65	11823	c.11547G>A	c.(11545-11547)TTG>TTA	p.L3849L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3849	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TAGTCACAGGCAAGACAGCAA	0.463		NaN											0	0	0	0.009096	0	4	5				
PKHD1	5314	broad.mit.edu	37	6	51497483	51497483	+	Silent	SNP	A	A	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:51497483A>G	uc003pah.1	-	65	11821	c.11545T>C	c.(11545-11547)TTG>CTG	p.L3849L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3849	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTCACAGGCAAGACAGCAAAT	0.463		NaN											0	0	0	0.009096	0	4	5				
FILIP1	27145	broad.mit.edu	37	6	76023470	76023470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:76023470G>T	uc003pia.2	-	5	2451	c.2078C>A	c.(2077-2079)GCA>GAA	p.A693E	FILIP1_uc003phy.1_Missense_Mutation_p.A693E|FILIP1_uc003phz.2_Missense_Mutation_p.A594E|FILIP1_uc010kbe.2_Missense_Mutation_p.A696E|FILIP1_uc003pib.1_Missense_Mutation_p.A445E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	693	Potential.									skin(3)|ovary(1)	4						CTTCTCTATTGCTTTATTCTT	0.428		NaN											1	0	3.82274e-22	0.01441	4.56605e-22	75	131				
UTRN	7402	broad.mit.edu	37	6	144794859	144794859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:144794859G>A	uc003qkt.2	+	23	3162	c.3070G>A	c.(3070-3072)GAT>AAT	p.D1024N	UTRN_uc010khq.1_Missense_Mutation_p.D1024N	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1024	Spectrin 7.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGATTAGGCCGATTCAACAGT	0.458		NaN											0	0	0	0.005443	0	26	32				
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr6:152651117C>A	uc010kiw.2	-	78	15305	c.14703G>T	c.(14701-14703)AGG>AGT	p.R4901S	SYNE1_uc003qot.3_Missense_Mutation_p.R4830S|SYNE1_uc003qou.3_Missense_Mutation_p.R4901S|SYNE1_uc010kiz.2_Missense_Mutation_p.R656S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517		NaN								HNSCC(10;0.0054)			1	0	6.33695e-27	0.007835	7.63987e-27	40	72				
DGKB	1607	broad.mit.edu	37	7	14775768	14775768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:14775768C>T	uc003ssz.2	-	4	407	c.220G>A	c.(220-222)GAG>AAG	p.E74K	DGKB_uc011jxt.1_Missense_Mutation_p.E67K|DGKB_uc003sta.2_Missense_Mutation_p.E74K|DGKB_uc011jxu.1_Missense_Mutation_p.E74K|DGKB_uc011jxv.1_Missense_Mutation_p.E74K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	74					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TCAGGAAGCTCGGCTTCCAGG	0.358		NaN											0	0	0	0.00245	0	13	14				
ABCB5	340273	broad.mit.edu	37	7	20744417	20744417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:20744417C>G	uc003suw.3	+	11	1619	c.1073C>G	c.(1072-1074)GCA>GGA	p.A358G	ABCB5_uc010kuh.2_Missense_Mutation_p.A803G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	358	Extracellular (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						ATAGATATAGCACAAATTCAA	0.363		NaN											0	0	0	0.007413	0	17	28				
DNAH11	8701	broad.mit.edu	37	7	21788260	21788260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:21788260G>A	uc003svc.2	+	53	8625	c.8594G>A	c.(8593-8595)GGC>GAC	p.G2865D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2865	ATP (Potential).|AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GGAGTTGGGGGCAGTGGCAAG	0.557		NaN							Kartagener_syndrome				0	0	0	0.004482	0	8	15				
HOXA2	3199	broad.mit.edu	37	7	27140478	27140478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:27140478C>T	uc003syh.2	-	2	1273	c.998G>A	c.(997-999)TGC>TAC	p.C333Y		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	333						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AAGCTGCAGGCAGGAATCTGT	0.502		NaN											0	0	0	0.01441	0	102	106				
C7orf25	79020	broad.mit.edu	37	7	42950479	42950479	+	Silent	SNP	G	G	A	rs113806989		TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr7:42950479G>A	uc003thw.2	-	2	485	c.21C>T	c.(19-21)CTC>CTT	p.L7L	C7orf25_uc010kxq.2_Silent_p.L7L|C7orf25_uc003thx.3_Silent_p.L65L|C7orf25_uc010kxr.2_Silent_p.L65L	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	7										skin(1)	1						TTCGTTCACAGAGCATGGAAT	0.423		NaN											0	0	0	0.01441	0	141	172				
PNMA2	10687	broad.mit.edu	37	8	26365183	26365183	+	Silent	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26365183G>A	uc003xez.2	-	3	1859	c.1089C>T	c.(1087-1089)GAC>GAT	p.D363D		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	363					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		GTTTTCAGTCGTCTCCCTCAT	0.408		NaN											0	0	0	0.01441	0	74	87				
ADRA1A	148	broad.mit.edu	37	8	26721924	26721924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:26721924G>A	uc003xfh.1	-	1	999	c.563C>T	c.(562-564)TCA>TTA	p.S188L	ADRA1A_uc003xfc.1_Missense_Mutation_p.S188L|ADRA1A_uc010lul.1_Missense_Mutation_p.S188L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S188L|ADRA1A_uc010lum.1_Missense_Mutation_p.S188L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S188L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	188	Helical; Name=5; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GCCCAGCGCTGAGAAGAGCAC	0.637		NaN											0	0	0	0.006122	0	16	23				
IL7	3574	broad.mit.edu	37	8	79650798	79650798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:79650798C>G	uc003ybg.2	-	4	902	c.301G>C	c.(301-303)GAT>CAT	p.D101H	IL7_uc003ybe.2_Intron|IL7_uc011lfm.1_Intron|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	NM_000880	NP_000871	P13232	IL7_HUMAN	interleukin 7 precursor	101					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding				0						AAGTGGAGATCAAAATCACCA	0.353		NaN											0	0	0	0.003163	0	16	36				
TRHR	7201	broad.mit.edu	37	8	110100415	110100415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:110100415C>T	uc003ymz.3	+	1	690	c.674C>T	c.(673-675)TCA>TTA	p.S225L		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	225	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCATTCCTTCAGATCCTAAA	0.368		NaN											0	0	0	0.012319	0	23	26				
TRPS1	7227	broad.mit.edu	37	8	116599372	116599372	+	Silent	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr8:116599372C>A	uc003ynz.2	-	4	2976	c.2517G>T	c.(2515-2517)GCG>GCT	p.A839A	TRPS1_uc011lhy.1_Silent_p.A843A|TRPS1_uc003yny.2_Silent_p.A852A|TRPS1_uc010mcy.2_Silent_p.A839A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	839					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAATAGGTCGCGCCAGATGGG	0.607		NaN							Langer-Giedion_syndrome				1	0	3.11337e-16	0.013726	3.49239e-16	22	26				
KDM6A	7403	broad.mit.edu	37	X	44913157	44913157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:44913157G>T	uc004dge.3	+	10	1207	c.832G>T	c.(832-834)GAA>TAA	p.E278*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.E278*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E27*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	278	TPR 5.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAGTCCTTGGAAGCAGATCC	0.408		NaN	D|N|F|S		renal|oesophageal SCC|MM								1	0	7.47603e-22	0.01441	8.84777e-22	53	9		Valid		
THOC2	57187	broad.mit.edu	37	X	122753270	122753270	+	Silent	SNP	G	G	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:122753270G>C	uc004etu.2	-	33	4325	c.4293C>G	c.(4291-4293)CTC>CTG	p.L1431L	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Silent_p.L252L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1431	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						AAGATTCCTTGAGTTCGATGA	0.393		NaN											0	0	0	0.001168	0	5	1				
UTY	7404	broad.mit.edu	37	Y	15591422	15591422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrY:15591422C>A	uc004fsx.1	-	1	1129	c.124G>T	c.(124-126)GAA>TAA	p.E42*	UTY_uc004fsy.2_Nonsense_Mutation_p.E42*|UTY_uc004fsz.2_Nonsense_Mutation_p.E42*	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	42					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCCTCCCTTTCCTCGACTGTC	0.607		NaN											1	0	7.88262e-20	0.00333	9.16089e-20	20	2				
MTHFR	4524	broad.mit.edu	37	1	11861287	11861287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:11861287C>T	uc001atc.1	-	3	590	c.406G>A	c.(406-408)GAG>AAG	p.E136K	MTHFR_uc001atb.1_Missense_Mutation_p.E159K	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	136					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GTGATCTCCTCCAGGCGCTGA	0.612		NaN											0	0	0	0.049695	0	17	96				
PHACTR4	65979	broad.mit.edu	37	1	28786756	28786756	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:28786756G>C	uc001bpw.2	+	4	506	c.224G>C	c.(223-225)AGA>ACA	p.R75T	PHACTR4_uc001bpu.2_Missense_Mutation_p.R75T|PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R59T|PHACTR4_uc001bpy.2_Missense_Mutation_p.R85T	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	75	RPEL 1.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAAGCCAAGAGAAGAGCTG	0.388		NaN											0	0	0	0.058154	0	8	39				
C1orf168	199920	broad.mit.edu	37	1	57233546	57233546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233546G>A	uc001cym.3	-	5	1425	c.1019C>T	c.(1018-1020)TCT>TTT	p.S340F	C1orf168_uc009vzu.1_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	340										ovary(3)|skin(2)	5						GGAGTTGCCAGAGTGTCTCAG	0.368		NaN											0	0	0	0.0918	0	23	107				
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233561G>A	uc001cym.3	-	5	1410	c.1004C>T	c.(1003-1005)TCA>TTA	p.S335L	C1orf168_uc009vzu.1_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	335										ovary(3)|skin(2)	5						TCTCAGATATGAAATTGTTGC	0.353		NaN											0	0	0	0.108266	0	24	109				
DIRAS3	9077	broad.mit.edu	37	1	68512369	68512369	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:68512369G>A	uc001ded.2	-	2	907	c.612C>T	c.(610-612)ACC>ACT	p.T204T	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	204					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						CCTGGAGGCCGGTGGTGGGCT	0.527		NaN											0	0	0	0.139131	0	51	120				
SSX2IP	117178	broad.mit.edu	37	1	85127956	85127956	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:85127956C>G	uc001dkh.2	-	9	1127	c.852G>C	c.(850-852)ATG>ATC	p.M284I	SSX2IP_uc001dkf.2_Missense_Mutation_p.M257I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.M257I|SSX2IP_uc001dki.2_Missense_Mutation_p.M284I|SSX2IP_uc010osa.1_Missense_Mutation_p.M257I|SSX2IP_uc001dkj.2_Missense_Mutation_p.M284I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.M280I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	284	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCCTTTTTCATTTGTTGAA	0.323		NaN											0	0	0	0.02938	0	7	231				
TGFBR3	7049	broad.mit.edu	37	1	92185667	92185667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:92185667C>G	uc001doh.2	-	9	1662	c.1196G>C	c.(1195-1197)GGA>GCA	p.G399A	TGFBR3_uc009wde.2_Missense_Mutation_p.G176A|TGFBR3_uc010osy.1_Missense_Mutation_p.G357A|TGFBR3_uc001doi.2_Missense_Mutation_p.G398A|TGFBR3_uc001doj.2_Missense_Mutation_p.G398A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	399	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGGAAGGCCTCCATTTTGGCC	0.582		NaN											0	0	0	0.116897	0	27	57				
RTCD1	8634	broad.mit.edu	37	1	100732130	100732130	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:100732130C>T	uc001dtc.2	+	2	314	c.96C>T	c.(94-96)CTC>CTT	p.L32L	RTCD1_uc010ouh.1_Silent_p.L32L|RTCD1_uc001dtd.2_Silent_p.L32L	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	32					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		TCCTAGGCCTCCCCTTGCGGG	0.637		NaN											0	0	0	0.021553	0	5	13				
ANKRD35	148741	broad.mit.edu	37	1	145558885	145558885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:145558885C>G	uc001eob.1	+	7	612	c.504C>G	c.(502-504)ATC>ATG	p.I168M	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.I11M	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	168	ANK 4.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGCAGCTATCTGCTCACAGC	0.572		NaN											0	0	0	0.0918	0	26	90				
CGN	57530	broad.mit.edu	37	1	151491775	151491775	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:151491775C>T	uc009wmw.2	+	2	924	c.780C>T	c.(778-780)CTC>CTT	p.L260L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	254	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTCCTCTCAGTGGCTTTA	0.582		NaN											0	0	0	0.105934	0	13	40				
ADAM15	8751	broad.mit.edu	37	1	155033250	155033250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155033250C>T	uc001fgr.1	+	19	2320	c.2219C>T	c.(2218-2220)TCT>TTT	p.S740F	EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.S425F|ADAM15_uc010peu.1_Missense_Mutation_p.S757F|ADAM15_uc001fgt.1_Missense_Mutation_p.S740F|ADAM15_uc010pev.1_Missense_Mutation_p.S750F|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.S740F|ADAM15_uc001fgw.1_Missense_Mutation_p.S740F|ADAM15_uc001fgv.1_Missense_Mutation_p.S740F|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Missense_Mutation_p.S31F|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	740	Cytoplasmic (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCAGCCCAATCTGGTCCCTCT	0.602		NaN											0	0	0	0.038147	0	7	46				
YY1AP1	55249	broad.mit.edu	37	1	155629585	155629585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629585C>T	uc001fln.2	-	11	2278	c.2254G>A	c.(2254-2256)GAG>AAG	p.E752K	YY1AP1_uc001flg.2_Missense_Mutation_p.E491K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E591K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E695K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E844K|YY1AP1_uc001flh.2_Missense_Mutation_p.E824K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E675K|YY1AP1_uc001flk.2_Missense_Mutation_p.E695K|YY1AP1_uc001fll.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E423K|YY1AP1_uc001flm.2_Missense_Mutation_p.E695K|YY1AP1_uc001fli.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E539K|YY1AP1_uc001flj.2_Missense_Mutation_p.E686K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E675K|YY1AP1_uc001flo.2_Missense_Mutation_p.E640K|YY1AP1_uc001flp.2_Missense_Mutation_p.E706K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	752					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTTCCCTCCTCTGTTTTCACA	0.537		NaN											0	0	0	0.134883	0	30	99				
YY1AP1	55249	broad.mit.edu	37	1	155629592	155629592	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629592C>T	uc001fln.2	-	11	2271	c.2247G>A	c.(2245-2247)GTG>GTA	p.V749V	YY1AP1_uc001flg.2_Silent_p.V488V|YY1AP1_uc010pgg.1_Silent_p.V588V|YY1AP1_uc010pgh.1_Silent_p.V692V|YY1AP1_uc010pgi.1_Silent_p.V841V|YY1AP1_uc001flh.2_Silent_p.V821V|YY1AP1_uc009wqt.2_Silent_p.V672V|YY1AP1_uc001flk.2_Silent_p.V692V|YY1AP1_uc001fll.2_Silent_p.V703V|YY1AP1_uc009wqv.2_Silent_p.V420V|YY1AP1_uc001flm.2_Silent_p.V692V|YY1AP1_uc001fli.2_Silent_p.V703V|YY1AP1_uc009wqu.2_Silent_p.V536V|YY1AP1_uc001flj.2_Silent_p.V683V|YY1AP1_uc009wqw.2_Silent_p.V672V|YY1AP1_uc001flo.2_Silent_p.V637V|YY1AP1_uc001flp.2_Silent_p.V703V	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	749					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTCTGTTTTCACAACGGTCC	0.527		NaN											0	0	0	0.144211	0	30	106				
TMEM79	84283	broad.mit.edu	37	1	156261349	156261349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:156261349C>T	uc010phi.1	+	4	1341	c.1145C>T	c.(1144-1146)GCC>GTC	p.A382V	TMEM79_uc001fod.2_Missense_Mutation_p.A223V|TMEM79_uc009wrw.2_Missense_Mutation_p.A382V|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	382						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					CCGGACCACGCCCGCTCGGCC	0.657		NaN											0	0	0	0.043863	0	7	37				
ARHGEF11	9826	broad.mit.edu	37	1	156948001	156948001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:156948001G>C	uc001fqo.2	-	6	1545	c.505C>G	c.(505-507)CTG>GTG	p.L169V	ARHGEF11_uc001fqn.2_Missense_Mutation_p.L169V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	169					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTACCTGCAGAGGTTTGGGT	0.552		NaN											0	0	0	0.11911	0	13	30				
OR10X1	128367	broad.mit.edu	37	1	158549553	158549553	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:158549553A>G	uc010pin.1	-	1	137	c.137T>C	c.(136-138)GTC>GCC	p.V46A		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					ACAAAAGAAGACCACAAAAAG	0.433		NaN											0	0	0	0.11126	0	37	108				
PPOX	5498	broad.mit.edu	37	1	161138959	161138959	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:161138959G>C	uc001fyj.2	+	7	1083	c.793G>C	c.(793-795)GAA>CAA	p.E265Q	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.E265Q|PPOX_uc001fyl.2_Missense_Mutation_p.E231Q|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.E103Q|PPOX_uc001fyh.2_Missense_Mutation_p.E103Q|PPOX_uc010pkg.1_Missense_Mutation_p.E103Q|PPOX_uc009wuc.1_Missense_Mutation_p.E103Q|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.E103Q	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	265					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTCCAGGCAGAAGGGCGCTG	0.567		NaN							Porphyria_Variegata				0	0	0	0.038395	0	16	41				
DCAF6	55827	broad.mit.edu	37	1	168014277	168014277	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:168014277G>A	uc001gew.2	+	14	2081	c.1839G>A	c.(1837-1839)CAG>CAA	p.Q613Q	DCAF6_uc001gev.2_Silent_p.Q633Q|DCAF6_uc001gex.2_Silent_p.Q690Q|DCAF6_uc010plk.1_Silent_p.Q659Q|DCAF6_uc001gey.2_Silent_p.Q486Q|DCAF6_uc001gez.2_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	613					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTCAGATCAGACTAGCACTG	0.453		NaN											0	0	0	0.069456	0	37	90				
SCYL3	57147	broad.mit.edu	37	1	169839492	169839492	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:169839492C>G	uc001ggs.2	-	6	727	c.529G>C	c.(529-531)GAA>CAA	p.E177Q	SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.E177Q|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	177	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTGTGAATTCTGGAGACTAA	0.398		NaN											0	0	0	0.0918	0	24	69				
C1orf25	81627	broad.mit.edu	37	1	185112497	185112497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:185112497C>G	uc001grf.3	-	7	1123	c.851G>C	c.(850-852)GGA>GCA	p.G284A	C1orf25_uc010pon.1_Missense_Mutation_p.G128A	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	284						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ACCAGTGGCTCCAAAAGCATC	0.338		NaN											0	0	0	0.050027	0	29	122				
RPS6KC1	26750	broad.mit.edu	37	1	213303065	213303065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:213303065G>A	uc010ptr.1	+	6	827	c.668G>A	c.(667-669)CGT>CAT	p.R223H	RPS6KC1_uc001hkd.2_Missense_Mutation_p.R211H|RPS6KC1_uc010pts.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.R42H	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	223					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CGGGAAAGTCGTAGCCTCTTT	0.413		NaN											0	0	0	0.045705	0	30	74				
SPATA17	128153	broad.mit.edu	37	1	217975148	217975148	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:217975148G>C	uc001hlh.1	+	9	987	c.961G>C	c.(961-963)GAA>CAA	p.E321Q	SPATA17_uc001hli.2_Missense_Mutation_p.E321Q	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	321						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294		NaN											0	0	0	0.09319	0	13	51				
URB2	9816	broad.mit.edu	37	1	229773838	229773838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773838C>T	uc001hts.1	+	4	3614	c.3478C>T	c.(3478-3480)CAG>TAG	p.Q1160*	URB2_uc009xfd.1_Nonsense_Mutation_p.Q1160*	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1160						nucleolus				central_nervous_system(2)|ovary(1)	3						TGTTTACTCTCAGATACTGTT	0.552		NaN											0	0	0	0.134883	0	30	61				
URB2	9816	broad.mit.edu	37	1	229773864	229773864	+	Silent	SNP	C	C	T	rs114023508	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773864C>T	uc001hts.1	+	4	3640	c.3504C>T	c.(3502-3504)CTC>CTT	p.L1168L	URB2_uc009xfd.1_Silent_p.L1168L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1168						nucleolus				central_nervous_system(2)|ovary(1)	3						TGCCAGCTCTCGCGGGACATG	0.527		NaN											0	0	0	0.064281	0	35	64				
COG2	22796	broad.mit.edu	37	1	230810788	230810788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:230810788C>T	uc001htw.2	+	9	1095	c.944C>T	c.(943-945)TCT>TTT	p.S315F	COG2_uc001htx.2_Missense_Mutation_p.S315F|COG2_uc010pwc.1_Missense_Mutation_p.S188F	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	315					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGGTGAATTCTGTTTGGCCA	0.393		NaN											0	0	0	0.11126	0	43	134				
PCNXL2	80003	broad.mit.edu	37	1	233394101	233394101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:233394101C>T	uc001hvl.2	-	5	1742	c.1507G>A	c.(1507-1509)GAG>AAG	p.E503K	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	503						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTTAGACTCGGAGCCTGTA	0.562		NaN											0	0	0	0.043863	0	18	57				
EXO1	9156	broad.mit.edu	37	1	242048726	242048726	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:242048726G>A	uc001hzh.2	+	15	2862	c.2322G>A	c.(2320-2322)CAG>CAA	p.Q774Q	EXO1_uc001hzi.2_Silent_p.Q774Q|EXO1_uc001hzj.2_Silent_p.Q774Q|EXO1_uc009xgq.2_Silent_p.Q773Q	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	774	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAGCATCCAGAAGAGAAAGC	0.453		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.049695	0	19	53				
OR2T6	254879	broad.mit.edu	37	1	248551413	248551413	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:248551413C>G	uc001iei.1	+	1	504	c.504C>G	c.(502-504)TTC>TTG	p.F168L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCCCGTTCTGTGCCTCTC	0.532		NaN											0	0	0	0.09319	0	13	35				
VIM	7431	broad.mit.edu	37	10	17277345	17277345	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:17277345G>C	uc001iou.2	+	7	1599	c.1186G>C	c.(1186-1188)GAG>CAG	p.E396Q	VIM_uc001iov.1_Missense_Mutation_p.E396Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E396Q|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E354Q|VIM_uc001ipc.1_Missense_Mutation_p.E396Q	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	396	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CCTTGACATTGAGATTGCCAC	0.458		NaN											0	0	0	0.11911	0	14	56				
NEBL	10529	broad.mit.edu	37	10	21117520	21117520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:21117520G>A	uc001iqi.2	-	17	2112	c.1715C>T	c.(1714-1716)TCT>TTT	p.S572F	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	572	Nebulin 16.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TGCTATGGTAGAATAGTTAGA	0.338		NaN											0	0	0	0.080935	0	12	51				
MASTL	84930	broad.mit.edu	37	10	27459817	27459817	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:27459817G>A	uc001itm.2	+	8	2568	c.1929G>A	c.(1927-1929)CTG>CTA	p.L643L	MASTL_uc001itl.2_Silent_p.L643L|MASTL_uc009xkw.1_Silent_p.L643L|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	643	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						TGGAGGTGCTGAAAACGTTAG	0.398		NaN											0	0	0	0.108266	0	28	84				
ARMC4	55130	broad.mit.edu	37	10	28273125	28273125	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:28273125C>G	uc009xky.2	-	5	768	c.670G>C	c.(670-672)GAA>CAA	p.E224Q	ARMC4_uc010qds.1_5'Flank|ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.E224Q|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	224							binding			ovary(4)|skin(2)	6						GAGGTATATTCAATAGATTCC	0.328		NaN											0	0	0	0.069234	0	10	164				
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:37478443A>G	uc001iza.1	+	25	2401	c.2302A>G	c.(2302-2304)ACG>GCG	p.T768A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ACCCAAGGCTACGCATCAAAA	0.289		NaN											0	0	0	0.115264	0	3	53				
ZNF485	220992	broad.mit.edu	37	10	44112076	44112076	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:44112076G>A	uc010qfc.1	+	5	779	c.585G>A	c.(583-585)CTG>CTA	p.L195L	ZNF485_uc010qfd.1_Silent_p.L104L	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	195	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAAGTTCCTGAAGAAGCACT	0.393		NaN											0	0	0	0.144211	0	31	90				
ARID5B	84159	broad.mit.edu	37	10	63852251	63852251	+	Missense_Mutation	SNP	G	G	A	rs137983907		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:63852251G>A	uc001jlt.1	+	10	3055	c.3029G>A	c.(3028-3030)CGG>CAG	p.R1010Q		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1010					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGGCGGCGCGGCCGATCAAG	0.567		NaN											0	0	0	0.116897	0	23	77				
NDST2	8509	broad.mit.edu	37	10	75568098	75568098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:75568098G>A	uc001jvk.2	-	3	853	c.49C>T	c.(49-51)CAC>TAC	p.H17Y	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	17	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					ATGAGGCGGTGCAGTTCCAGC	0.622		NaN											0	0	0	0.115264	0	3	4				
HTR7	3363	broad.mit.edu	37	10	92617282	92617282	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:92617282C>G	uc001kha.2	-	1	390	c.147G>C	c.(145-147)CTG>CTC	p.L49L	HTR7_uc001kgz.2_Silent_p.L49L|HTR7_uc001khb.2_Silent_p.L49L	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	49	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCACCTCGCTCAGCAGGTGCG	0.701		NaN											0	0	0	0.021553	0	6	11				
CCDC147	159686	broad.mit.edu	37	10	106209909	106209909	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:106209909C>G	uc001kyh.2	+	17	2591	c.2457C>G	c.(2455-2457)CTC>CTG	p.L819L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	819	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCAATGAGCTCCAGAATTTAA	0.328		NaN											0	0	0	0.139131	0	53	127				
ATE1	11101	broad.mit.edu	37	10	123673374	123673374	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:123673374G>C	uc001lfp.2	-	4	350	c.268C>G	c.(268-270)CAC>GAC	p.H90D	ATE1_uc001lfq.2_Missense_Mutation_p.H90D|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_5'UTR|ATE1_uc010qtt.1_Missense_Mutation_p.H83D|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	90					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				ACCTTCTTGTGAGATTTTGAA	0.363		NaN											0	0	0	0.049695	0	21	46				
NAV2	89797	broad.mit.edu	37	11	19955347	19955347	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:19955347G>A	uc010rdm.1	+	8	1987	c.1626G>A	c.(1624-1626)GAG>GAA	p.E542E	NAV2_uc001mpp.2_Silent_p.E455E|NAV2_uc001mpr.3_Silent_p.E519E	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	542						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCAAGGAGGAGCCAAAAGAAG	0.423		NaN											0	0	0	0.076483	0	23	32				
OR5W2	390148	broad.mit.edu	37	11	55681643	55681643	+	Missense_Mutation	SNP	C	C	G	rs12786096		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:55681643C>G	uc010rir.1	-	1	416	c.416G>C	c.(415-417)AGA>ACA	p.R139T		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATAGCACACTCTGCTAGACAT	0.468		NaN											0	0	0	0.043863	0	20	46				
OR4D10	390197	broad.mit.edu	37	11	59245789	59245789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:59245789C>G	uc001nnz.1	+	1	887	c.887C>G	c.(886-888)TCA>TGA	p.S296*		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GAGATGAAGTCAGCCATGAGG	0.368		NaN											0	0	0	0.047766	0	9	31				
C11orf66	220004	broad.mit.edu	37	11	61254053	61254053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:61254053C>T	uc001nru.1	+	9	930	c.805C>T	c.(805-807)CGA>TGA	p.R269*	C11orf66_uc009ynq.1_Nonsense_Mutation_p.R249*	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	269										ovary(1)	1						AGCCTTCAGCCGAGGGAATGA	0.577		NaN											0	0	0	0.014758	0	4	14				
POLA2	23649	broad.mit.edu	37	11	65034149	65034149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:65034149C>T	uc001odj.2	+	2	518	c.176C>T	c.(175-177)TCA>TTA	p.S59L	POLA2_uc009yqf.1_Missense_Mutation_p.S59L|POLA2_uc010rod.1_Intron	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	59					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	GGCCTTACCTCAGAGATCCTG	0.383		NaN											0	0	0	0.038395	0	18	25				
FGF3	2248	broad.mit.edu	37	11	69625371	69625371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:69625371G>C	uc001oph.2	-	3	913	c.422C>G	c.(421-423)CCT>CGT	p.P141R		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	141					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCGGGCCCCAGGCGTACTAGA	0.657		NaN											0	0	0	0.105934	0	14	9				
SHANK2	22941	broad.mit.edu	37	11	70507825	70507825	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:70507825C>T	uc010rqn.1	-	1	99	c.48G>A	c.(46-48)ACG>ACA	p.T16T	SHANK2_uc001opz.2_Silent_p.T16T|SHANK2_uc001oqc.2_Intron|uc009ysn.1_Missense_Mutation_p.P88L|SHANK2_uc010rqp.1_Silent_p.T16T	NM_133266	NP_573573	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	Error:Variant_position_missing_in_Q9UPX8_after_alignment					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TATTGTAGCCCGTCATCATCA	0.542		NaN											0	0	0	0.134883	0	28	96				
CLPB	81570	broad.mit.edu	37	11	72145375	72145375	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:72145375C>G	uc001osj.2	-	1	194	c.144G>C	c.(142-144)CTG>CTC	p.L48L	CLPB_uc010rqx.1_5'UTR|CLPB_uc010rqy.1_Silent_p.L48L|CLPB_uc001osk.2_Silent_p.L48L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	48					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TGGCTACCCTCAGCCACTGCG	0.692		NaN									OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.132662	0	13	9				
RAD52	5893	broad.mit.edu	37	12	1025522	1025522	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:1025522C>G	uc001qis.1	-	9	967	c.853G>C	c.(853-855)GAG>CAG	p.E285Q	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.E208Q|RAD52_uc001qiu.1_Missense_Mutation_p.E285Q|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Nonstop_Mutation_p.*302S	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	285					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCACTCTTCTCAGCTGACGGC	0.428		NaN						Homologous_recombination					0	0	0	0.009096	0	4	10				
C12orf11	55726	broad.mit.edu	37	12	27067369	27067369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27067369G>T	uc001rhk.3	-	12	1928	c.1391C>A	c.(1390-1392)TCA>TAA	p.S464*	C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Nonsense_Mutation_p.S363*	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	464					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					GGTGGTTTGTGAAATGATCAT	0.343		NaN											1	0	1.75199e-13	0.125774	1.95485e-13	27	101				
ARNTL2	56938	broad.mit.edu	37	12	27573406	27573406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27573406G>T	uc001rht.1	+	17	1870	c.1852G>T	c.(1852-1854)GAA>TAA	p.E618*	ARNTL2_uc001rhw.2_Nonsense_Mutation_p.E581*|ARNTL2_uc010sjp.1_3'UTR|ARNTL2_uc001rhu.1_Nonsense_Mutation_p.E604*|ARNTL2_uc009zji.1_Nonsense_Mutation_p.E584*|ARNTL2_uc001rhv.1_Nonsense_Mutation_p.E570*|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	618					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					GAATTACTTAGAAGCAGAGGG	0.448		NaN											1	0	1.67942e-08	0.038395	1.86082e-08	19	130				
IPO8	10526	broad.mit.edu	37	12	30833508	30833508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:30833508G>A	uc001rjd.2	-	5	717	c.547C>T	c.(547-549)CAG>TAG	p.Q183*		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	183					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTTGTTGCTGAATACGAGGC	0.343		NaN											0	0	0	0.139131	0	71	140				
C12orf35	55196	broad.mit.edu	37	12	32137616	32137616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:32137616G>A	uc001rks.2	+	4	4141	c.3727G>A	c.(3727-3729)GAT>AAT	p.D1243N	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1243										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GACTCCTCCAGATGGGAAAAG	0.368		NaN											0	0	0	0.083992	0	25	57				
DDX23	9416	broad.mit.edu	37	12	49230568	49230568	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49230568G>A	uc001rsm.2	-	10	1111	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	340						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						GAAGTTTGCGGAGTCTTGCCC	0.537		NaN											0	0	0	0.139131	0	110	285				
TROAP	10024	broad.mit.edu	37	12	49722719	49722719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49722719G>A	uc001rtx.3	+	9	1068	c.901G>A	c.(901-903)GAC>AAC	p.D301N	TROAP_uc009zlh.2_Missense_Mutation_p.D301N|TROAP_uc001rty.2_Missense_Mutation_p.D9N	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	301					cell adhesion	cytoplasm				ovary(1)	1						GGACAGCCATGACTCCCACCT	0.468		NaN											0	0	0	0.049695	0	20	49				
GALNT6	11226	broad.mit.edu	37	12	51759233	51759233	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:51759233G>A	uc001ryk.2	-	4	1020	c.795C>T	c.(793-795)CTC>CTT	p.L265L	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.L265L	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	265	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CCAGGAACGTGAGCACCTCCG	0.677		NaN											0	0	0	0.105934	0	13	29				
LRP1	4035	broad.mit.edu	37	12	57595667	57595667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:57595667G>C	uc001snd.2	+	67	11039	c.10573G>C	c.(10573-10575)GAT>CAT	p.D3525H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3525	Extracellular (Potential).|LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCGGATGAGCCCAA	0.632		NaN											0	0	0	0.11911	0	14	49				
TBC1D15	64786	broad.mit.edu	37	12	72291701	72291701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:72291701G>A	uc001swu.2	+	11	1289	c.1280G>A	c.(1279-1281)AGA>AAA	p.R427K	TBC1D15_uc009zrv.2_Missense_Mutation_p.R289K|TBC1D15_uc010stt.1_Missense_Mutation_p.R396K|TBC1D15_uc001swv.2_Missense_Mutation_p.R410K|TBC1D15_uc001sww.2_Missense_Mutation_p.R159K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	405	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0						TCGAGGTTAAGAGATTATAGA	0.333		NaN											0	0	0	0.099896	0	28	71				
C12orf51	283450	broad.mit.edu	37	12	112664513	112664513	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:112664513C>G	uc009zwc.2	-	37	5656	c.5638G>C	c.(5638-5640)GAA>CAA	p.E1880Q	C12orf51_uc001ttr.1_Missense_Mutation_p.E55Q	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TGTATGAATTCTTCACAAAAT	0.398		NaN											0	0	0	0.080935	0	12	26				
IFT88	8100	broad.mit.edu	37	13	21157156	21157156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:21157156C>T	uc001unh.2	+	5	574	c.178C>T	c.(178-180)CCA>TCA	p.P60S	IFT88_uc001uni.2_Missense_Mutation_p.P51S|IFT88_uc001unj.2_Missense_Mutation_p.P50S|IFT88_uc010tcq.1_Missense_Mutation_p.P50S	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	60					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAGACCTCCAGTAAGTGA	0.219		NaN											0	0	0	0.043863	0	20	68				
UGGT2	55757	broad.mit.edu	37	13	96513055	96513055	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:96513055C>T	uc001vmt.2	-	32	3897	c.3727G>A	c.(3727-3729)GAA>AAA	p.E1243K		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1243	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AAAAAACGTTCATATAAATGA	0.254		NaN											0	0	0	0.105934	0	13	65				
ATP11A	23250	broad.mit.edu	37	13	113532599	113532599	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:113532599G>C	uc001vsi.3	+	29	3484	c.3396G>C	c.(3394-3396)CTG>CTC	p.L1132L	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1132	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCAGCAGCCTGAGTTTCTGAT	0.572		NaN											0	0	0	0.038395	0	17	47				
TRAPPC6B	122553	broad.mit.edu	37	14	39627491	39627491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39627491G>A	uc001wut.1	-	3	600	c.265C>T	c.(265-267)CAG>TAG	p.Q89*	TRAPPC6B_uc001wuu.1_Nonsense_Mutation_p.Q89*|TRAPPC6B_uc001wuv.1_RNA|TRAPPC6B_uc010tqd.1_Intron	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B isoform	89					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TTAATTACCTGATGATTTGTC	0.274		NaN											0	0	0	0.047766	0	7	42				
CTAGE5	4253	broad.mit.edu	37	14	39783995	39783995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39783995C>T	uc001wvg.3	+	15	1684	c.1348C>T	c.(1348-1350)CAA>TAA	p.Q450*	CTAGE5_uc010tqe.1_Nonsense_Mutation_p.Q412*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.Q438*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.Q370*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.Q395*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.Q450*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.Q375*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.Q455*|CTAGE5_uc010amz.2_Nonsense_Mutation_p.Q66*|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.Q421*	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	450	Potential.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCATTCTTATCAAGGGCAGGT	0.229		NaN											0	0	0	0.049695	0	19	53				
PPIL5	122769	broad.mit.edu	37	14	50074213	50074213	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50074213G>A	uc001wwn.2	+	3	702	c.378G>A	c.(376-378)GTG>GTA	p.V126V	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Silent_p.V67V|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	126											0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCACACCAGTGAAGACTTCAG	0.368		NaN											0	0	0	0.125774	0	31	95				
SDCCAG1	9147	broad.mit.edu	37	14	50255908	50255908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50255908G>A	uc001wxc.2	-	28	2919	c.2851C>T	c.(2851-2853)CAT>TAT	p.H951Y	SDCCAG1_uc010anj.1_Missense_Mutation_p.H951Y|SDCCAG1_uc001wwz.2_Missense_Mutation_p.H151Y|SDCCAG1_uc001wxa.2_Missense_Mutation_p.H231Y|SDCCAG1_uc010tqi.1_Missense_Mutation_p.H930Y|SDCCAG1_uc001wxe.2_Missense_Mutation_p.H909Y	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	951						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		TGTAACTCATGAGTTATAACC	0.428		NaN											0	0	0	0.139131	0	53	169				
C14orf182	283551	broad.mit.edu	37	14	50472344	50472344	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50472344G>C	uc001wxi.1	-	1	1895	c.174C>G	c.(172-174)CTC>CTG	p.L58L		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	58											0						CCCCGCTACTGAGTGGCAAGA	0.522		NaN											0	0	0	0.09836	0	42	151				
ESR2	2100	broad.mit.edu	37	14	64727309	64727309	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:64727309G>A	uc001xha.1	-	5	1278	c.810C>T	c.(808-810)CTC>CTT	p.L270L	ESR2_uc001xgu.2_Silent_p.L270L|ESR2_uc001xgv.2_Silent_p.L270L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.L270L|ESR2_uc001xgy.1_Silent_p.L270L|ESR2_uc001xgz.1_Silent_p.L270L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.L270L|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	270	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCAGGAGGGTGAGCACTAGCT	0.677		NaN											0	0	0	0.055883	0	21	30				
PLEKHG3	26030	broad.mit.edu	37	14	65194411	65194411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:65194411C>G	uc001xho.1	+	2	331	c.62C>G	c.(61-63)TCT>TGT	p.S21C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S21C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.S21C|PLEKHG3_uc010aqh.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	21	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCCTGACCTCTACCACCTCC	0.667		NaN											0	0	0	0.014758	0	3	10				
ZDHHC22	283576	broad.mit.edu	37	14	77605820	77605820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:77605820G>C	uc010asp.2	-	2	465	c.262C>G	c.(262-264)CCA>GCA	p.P88A		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	88	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GAGGGGCATGGAGTCTTCCTG	0.627		NaN											0	0	0	0.014758	0	5	9				
EML5	161436	broad.mit.edu	37	14	89168814	89168814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:89168814C>G	uc001xxg.2	-	15	2400	c.2214G>C	c.(2212-2214)TTG>TTC	p.L738F	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	738	WD 11.					cytoplasm|microtubule				ovary(3)	3						CGTAGTCTTTCAAAGGATGAA	0.388		NaN											0	0	0	0.02938	0	7	53				
CATSPERB	79820	broad.mit.edu	37	14	92088132	92088132	+	Missense_Mutation	SNP	G	G	C	rs143009010		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:92088132G>C	uc001xzs.1	-	19	2220	c.2080C>G	c.(2080-2082)CTA>GTA	p.L694V	CATSPERB_uc010aub.1_Missense_Mutation_p.L216V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	694					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGCTCTTTAGAAAGGTCATA	0.383		NaN											0	0	0	0.139131	0	51	137				
ATG2B	55102	broad.mit.edu	37	14	96752292	96752292	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:96752292C>T	uc001yfi.2	-	42	6402	c.6037G>A	c.(6037-6039)GAA>AAA	p.E2013K		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	2013										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCCGCAGTTTCATAAATGGTC	0.557		NaN											0	0	0	0.069234	0	6	16				
EVL	51466	broad.mit.edu	37	14	100607527	100607527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:100607527G>A	uc001ygt.2	+	12	1338	c.1099G>A	c.(1099-1101)GCT>ACT	p.A367T	EVL_uc001ygu.2_Missense_Mutation_p.A369T|EVL_uc010avu.2_Missense_Mutation_p.A226T|EVL_uc001ygw.1_5'Flank	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	367	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				GATGAAGCCTGCTGGGAGCGT	0.647		NaN											0	0	0	0.02938	0	7	38				
DYNC1H1	1778	broad.mit.edu	37	14	102442048	102442048	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:102442048G>C	uc001yks.2	+	2	421	c.257_splice	c.e2-1	p.E86_splice		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						ATGATTTGTAGAGGACGTCGG	0.323		NaN											0	0	0	0.009096	0	3	76				
INF2	64423	broad.mit.edu	37	14	105181636	105181636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105181636C>T	uc001ypb.2	+	22	3853	c.3710C>T	c.(3709-3711)TCT>TTT	p.S1237F	INF2_uc010tyi.1_Missense_Mutation_p.S1237F|INF2_uc001ypc.2_Intron|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	1237					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCCCTGATTCTGATGATAAT	0.557		NaN											0	0	0	0.139131	0	48	132				
AHNAK2	113146	broad.mit.edu	37	14	105410194	105410194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105410194C>T	uc010axc.1	-	7	11714	c.11594G>A	c.(11593-11595)CGC>CAC	p.R3865H	AHNAK2_uc001ypx.2_Missense_Mutation_p.R3765H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGCGAGCTTGGAC	0.607		NaN											0	0	0	0.139131	0	63	154				
CYFIP1	23191	broad.mit.edu	37	15	22933811	22933811	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:22933811C>T	uc001yus.2	+	8	834	c.730C>T	c.(730-732)CTG>TTG	p.L244L	CYFIP1_uc001yut.2_Silent_p.L244L|CYFIP1_uc010aya.1_Silent_p.L272L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	244					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TATTGTGAATCTGTGTGTGGA	0.522		NaN											0	0	0	0.069456	0	33	148				
APBA2	321	broad.mit.edu	37	15	29393870	29393870	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:29393870G>A	uc001zck.2	+	9	1614	c.1407G>A	c.(1405-1407)CTG>CTA	p.L469L	APBA2_uc010azj.2_Silent_p.L457L|APBA2_uc010uat.1_Silent_p.L457L|APBA2_uc001zcl.2_Silent_p.L457L|APBA2_uc001zcm.1_Silent_p.L161L	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	469	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TTGTAGTGCTGATGGCCAGAC	0.592		NaN											0	0	0	0.014758	0	4	18				
RYR3	6263	broad.mit.edu	37	15	34047305	34047305	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:34047305G>C	uc001zhi.2	+	58	8509	c.8439G>C	c.(8437-8439)GAG>GAC	p.E2813D	RYR3_uc010bar.2_Missense_Mutation_p.E2813D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2813	4.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCATGGAGAAGAGGTTTG	0.443		NaN											0	0	0	0.014758	0	4	20				
CATSPER2	117155	broad.mit.edu	37	15	43932621	43932621	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:43932621C>T	uc001zsh.2	-	5	677	c.462G>A	c.(460-462)TTG>TTA	p.L154L	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L154L|CATSPER2_uc001zsj.2_Silent_p.L154L|CATSPER2_uc001zsk.2_Silent_p.L154L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	154	Helical; Name=Segment S2; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGAAAATAAGCAAGATAAACC	0.418		NaN											0	0	0	0.092188	0	43	97				
ATP8B4	79895	broad.mit.edu	37	15	50152570	50152570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:50152570G>A	uc001zxu.2	-	28	3542	c.3400C>T	c.(3400-3402)CAC>TAC	p.H1134Y	ATP8B4_uc010ber.2_Missense_Mutation_p.H1007Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.H944Y|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.H137Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1134	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTTCTTGGTGAGCAAAAGCA	0.507		NaN											0	0	0	0.139131	0	50	115				
TCF12	6938	broad.mit.edu	37	15	57565418	57565418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:57565418C>G	uc002aec.2	+	18	2148	c.1864C>G	c.(1864-1866)CAA>GAA	p.Q622E	TCF12_uc010ugm.1_Missense_Mutation_p.Q674E|TCF12_uc010ugn.1_Missense_Mutation_p.Q642E|TCF12_uc002aea.2_Missense_Mutation_p.Q646E|TCF12_uc010bfs.2_Missense_Mutation_p.Q43E|TCF12_uc002aeb.2_Missense_Mutation_p.Q646E|TCF12_uc002aed.2_Missense_Mutation_p.Q622E|TCF12_uc002aee.2_Missense_Mutation_p.Q452E|TCF12_uc010bft.2_Missense_Mutation_p.Q476E|TCF12_uc010ugo.1_Missense_Mutation_p.Q386E|TCF12_uc010ugp.1_Missense_Mutation_p.Q279E|TCF12_uc010ugq.1_Missense_Mutation_p.Q256E|TCF12_uc010ugr.1_Missense_Mutation_p.Q235E	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	622	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TATTCTTCATCAAGCCGTGGC	0.448		NaN	T	TEC	extraskeletal myxoid chondrosarcoma								0	0	0	0.080935	0	11	40				
FAM96A	84191	broad.mit.edu	37	15	64385901	64385901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:64385901C>T	uc002amt.1	-	1	307	c.67G>A	c.(67-69)GAG>AAG	p.E23K	FAM96A_uc002amu.1_Missense_Mutation_p.E23K|FAM96A_uc010uin.1_Missense_Mutation_p.E23K|SNX1_uc010bgv.2_5'Flank|SNX1_uc010uio.1_5'Flank|SNX1_uc002amv.2_5'Flank|SNX1_uc002amw.2_5'Flank|SNX1_uc002amx.2_5'Flank|SNX1_uc002amy.2_5'Flank|SNX1_uc010bgw.2_5'Flank	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	23					chromosome segregation						0						GCTCCCGGCTCAGAGAGGCCG	0.582		NaN											0	0	0	0.058154	0	8	27				
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:68620499C>A	uc002ari.2	-	16	2090	c.2003G>T	c.(2002-2004)TGC>TTC	p.C668F	ITGA11_uc010bib.2_Missense_Mutation_p.C668F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	668	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577		NaN											1	0	1.26484e-09	0.038147	1.40637e-09	6	38				
RNPS1	10921	broad.mit.edu	37	16	2312402	2312402	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:2312402C>T	uc002cpt.2	-	6	1099	c.553G>A	c.(553-555)GGG>AGG	p.G185R	RNPS1_uc002cpu.2_Missense_Mutation_p.G185R|RNPS1_uc002cpv.2_Missense_Mutation_p.G8R|RNPS1_uc002cpw.2_Missense_Mutation_p.G185R|RNPS1_uc002cpx.2_Missense_Mutation_p.G162R|RNPS1_uc010uwa.1_RNA	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	RNA-binding protein S1, serine-rich domain	185	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(1)	1						TTAATTTTCCCATAGGTGGAA	0.488		NaN											0	0	0	0.062417	0	23	50				
ZNF205	7755	broad.mit.edu	37	16	3170223	3170223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3170223G>A	uc002cub.2	+	7	1697	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	ZNF205_uc002cua.2_Missense_Mutation_p.R521Q	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	521	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AACCTGCACCGGCACGAGAAG	0.632		NaN											0	0	0	0.047766	0	9	22				
CLUAP1	23059	broad.mit.edu	37	16	3569975	3569975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3569975G>A	uc002cvk.1	+	7	757	c.652G>A	c.(652-654)GAA>AAA	p.E218K	CLUAP1_uc002cvj.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvl.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvm.1_Missense_Mutation_p.E52K	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	218	Potential.					nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AGCCAAAATCGAAAAGAGAAA	0.383		NaN											0	0	0	0.09836	0	40	147				
C16orf62	57020	broad.mit.edu	37	16	19621680	19621680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:19621680G>A	uc002dgn.1	+	12	978	c.966G>A	c.(964-966)ATG>ATA	p.M322I	C16orf62_uc002dgo.1_Missense_Mutation_p.M322I|C16orf62_uc002dgp.1_Missense_Mutation_p.M71I|C16orf62_uc010vas.1_Missense_Mutation_p.M196I|C16orf62_uc002dgm.1_Missense_Mutation_p.M322I	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	322						integral to membrane				ovary(1)	1						TGACATGCATGATCAGAGGGA	0.547		NaN											0	0	0	0.021553	0	5	17				
NLRC5	84166	broad.mit.edu	37	16	57063929	57063929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57063929G>A	uc002ekk.1	+	10	2575	c.2350G>A	c.(2350-2352)GTG>ATG	p.V784M	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.V533M|NLRC5_uc002ekl.2_Missense_Mutation_p.V589M|NLRC5_uc002ekm.2_Missense_Mutation_p.V589M|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	784	LRR 4.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CAGCATCTGCGTGTCAACCCT	0.577		NaN											0	0	0	0.043863	0	20	58				
DOK4	55715	broad.mit.edu	37	16	57508776	57508776	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57508776G>A	uc010cdb.2	-	5	826	c.528C>T	c.(526-528)CTC>CTT	p.L176L	DOK4_uc002elu.1_Silent_p.L176L|DOK4_uc002elv.3_Silent_p.L176L	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	176	IRS-type PTB.						insulin receptor binding			skin(1)	1						GCCACGAGACGAGCTTCACAC	0.637		NaN											0	0	0	0.080935	0	11	30				
CCDC135	84229	broad.mit.edu	37	16	57757006	57757006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57757006G>A	uc002emi.2	+	11	1590	c.1501G>A	c.(1501-1503)GAC>AAC	p.D501N	CCDC135_uc002emj.2_Missense_Mutation_p.D501N|CCDC135_uc002emk.2_Missense_Mutation_p.D436N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	501						cytoplasm				central_nervous_system(1)	1						CCTGAAGACAGACTACTTCAA	0.577		NaN											0	0	0	0.144211	0	31	75				
CCDC113	29070	broad.mit.edu	37	16	58292407	58292407	+	Missense_Mutation	SNP	G	G	A	rs151051990		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:58292407G>A	uc002ene.2	+	4	605	c.526G>A	c.(526-528)GAG>AAG	p.E176K	CCDC113_uc010vid.1_Missense_Mutation_p.E122K	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	176	Potential.					protein complex					0						GAAATACATTGAGGACATGAA	0.408		NaN											0	0	0	0.105934	0	13	61				
ZFHX3	463	broad.mit.edu	37	16	72992824	72992824	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:72992824G>A	uc002fck.2	-	2	1894	c.1221C>T	c.(1219-1221)ACC>ACT	p.T407T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	407					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GTACCGAGCTGGTGAGCCCGC	0.657		NaN											0	0	0	0.104719	0	40	106				
CDYL2	124359	broad.mit.edu	37	16	80666970	80666970	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:80666970G>T	uc002ffs.2	-	3	885	c.780C>A	c.(778-780)TTC>TTA	p.F260L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	260						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						GGATGTGCGTGAACCCTTCTT	0.552		NaN											1	0	5.45727e-16	0.134883	6.1106e-16	31	85				
SMG6	23293	broad.mit.edu	37	17	2202737	2202737	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2202737C>A	uc002fub.1	-	2	1365	c.1310G>T	c.(1309-1311)GGA>GTA	p.G437V	SMG6_uc002fud.1_Missense_Mutation_p.G406V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	437	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						ACTACCAGATCCAAACAAAAG	0.542		NaN											1	0	1.96642e-18	0.092188	2.22534e-18	42	78				
SRR	63826	broad.mit.edu	37	17	2222174	2222174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2222174C>G	uc002fue.1	+	4	418	c.350C>G	c.(349-351)GCA>GGA	p.A117G	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	117					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAAAACTTGCAATACAAGCC	0.438		NaN											0	0	0	0.139131	0	57	95				
TRPV1	7442	broad.mit.edu	37	17	3494637	3494637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:3494637G>A	uc010vrr.1	-	2	822	c.295C>T	c.(295-297)CAG>TAG	p.Q99*	TRPV1_uc010vro.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrp.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrq.1_Silent_p.P73P|TRPV1_uc010vrs.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrt.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vru.1_Nonsense_Mutation_p.Q99*	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	99	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACAGAGTCCTGGGACAGCAGC	0.582		NaN											0	0	0	0.058154	0	10	12				
ASGR1	432	broad.mit.edu	37	17	7080605	7080605	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7080605G>A	uc002ges.3	-	3	521	c.111C>T	c.(109-111)TCC>TCT	p.S37S	ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	37	Cytoplasmic (Probable).				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						GGCGAGGTCCGGAGCAGAGAC	0.682		NaN									OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.115264	0	3	27				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.132662	0	14	24		Valid		
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7578188C>A	uc002gim.2	-	6	855	c.661G>T	c.(661-663)GAG>TAG	p.E221*	TP53_uc002gig.1_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	221	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.E221*(5)|p.E221fs*4(3)|p.E221G(2)|p.E221K(2)|p.E221D(2)|p.E221fs*26(2)|p.E221E(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.V218fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAGGCGGCTCATAGGGCACC	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	2.31682e-05	0.132662	2.54931e-05	15	15		Valid		
MED24	9862	broad.mit.edu	37	17	38187864	38187864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38187864C>G	uc002htt.2	-	11	1307	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	MED24_uc010wes.1_Missense_Mutation_p.E192Q|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.E357Q|MED24_uc002htu.2_Missense_Mutation_p.E319Q|MED24_uc010cwn.2_Missense_Mutation_p.E319Q|MED24_uc010weu.1_Missense_Mutation_p.E242Q|MED24_uc010wev.1_Missense_Mutation_p.E282Q|MED24_uc010wew.1_Missense_Mutation_p.E261Q|MED24_uc010wex.1_Missense_Mutation_p.E37Q	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	332					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					TTGACATCCTCAGTGAAGTCC	0.567		NaN											0	0	0	0.038395	0	17	69				
TMEM99	147184	broad.mit.edu	37	17	38991464	38991464	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38991464C>T	uc002hvj.1	+	3	1003	c.696C>T	c.(694-696)CTC>CTT	p.L232L		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	232	Helical; (Potential).					integral to membrane				skin(1)	1		Breast(137;0.000301)				GGCAAAGCCTCATATTACTCT	0.398		NaN											0	0	0	0.104719	0	45	59				
SCN4A	6329	broad.mit.edu	37	17	62020202	62020202	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:62020202G>A	uc002jds.1	-	23	4349	c.4272C>T	c.(4270-4272)GTC>GTT	p.V1424V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1424	Helical; Name=S3 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TGGACAGGATGACGACCACGA	0.602		NaN											0	0	0	0.021553	0	6	22				
SGSH	6448	broad.mit.edu	37	17	78188482	78188482	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:78188482G>C	uc002jxz.3	-	4	525	c.438C>G	c.(436-438)CTC>CTG	p.L146L	SGSH_uc002jya.3_5'UTR|SGSH_uc002jxy.2_Silent_p.L146L|SGSH_uc010wue.1_Missense_Mutation_p.S158C	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	146			L -> P (in MPS3A; severe).		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCCCACCTGGAGGACGGAGC	0.612		NaN											0	0	0	0.105934	0	13	30				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr18:14513764C>T	uc010dln.2	-	10	1884	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	477										skin(3)	3						AAGTTGTTTCCGGGTATCATT	0.358		NaN											0	0	0	0.009096	0	4	48				
ZNF57	126295	broad.mit.edu	37	19	2918122	2918122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:2918122G>C	uc002lwr.2	+	4	1651	c.1503G>C	c.(1501-1503)GAG>GAC	p.E501D	ZNF57_uc010xha.1_Missense_Mutation_p.E469D	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTGGAGAGAAACCTCACA	0.463		NaN											0	0	0	0.108266	0	29	37				
MUC16	94025	broad.mit.edu	37	19	9061174	9061174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:9061174G>C	uc002mkp.2	-	3	26476	c.26272C>G	c.(26272-26274)CAA>GAA	p.Q8758E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8760	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATTGTGGATTGAGCAGGACCT	0.498		NaN											0	0	0	0.062417	0	22	47				
CD97	976	broad.mit.edu	37	19	14516631	14516631	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:14516631C>T	uc002myl.2	+	14	1824	c.1701C>T	c.(1699-1701)CTC>CTT	p.L567L	CD97_uc002mym.2_Silent_p.L518L|CD97_uc002myn.2_Silent_p.L474L	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	567	Helical; Name=1; (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TGTGCATCCTCACTTTCCTGC	0.632		NaN											0	0	0	0.116897	0	23	79				
PLVAP	83483	broad.mit.edu	37	19	17487865	17487865	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:17487865G>A	uc002ngk.1	-	1	283	c.233C>T	c.(232-234)ACG>ATG	p.T78M		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	78	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTGGGAGGCCGTGAGCCCTAG	0.617		NaN											0	0	0	0.069234	0	10	32				
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:21606279C>G	uc002npx.2	+	2	714	c.434C>G	c.(433-435)TCT>TGT	p.S145C	ZNF493_uc002npw.2_Missense_Mutation_p.S273C|ZNF493_uc002npy.2_Missense_Mutation_p.S145C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	145	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGGCACATCTTTCTACCAA	0.348		NaN											0	0	0	0.144211	0	31	106				
PDCD2L	84306	broad.mit.edu	37	19	34900411	34900411	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:34900411C>A	uc002nvj.2	+	4	715	c.682C>A	c.(682-684)CAA>AAA	p.Q228K		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	228						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTTGCTTTCCCAAAGGTGAGG	0.507		NaN											1	0	0.00909568	0.009096	0.00983818	4	44				
RYR1	6261	broad.mit.edu	37	19	39001344	39001344	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:39001344C>G	uc002oit.2	+	60	9175	c.9045C>G	c.(9043-9045)CTC>CTG	p.L3015L	RYR1_uc002oiu.2_Silent_p.L3015L|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3015	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCACTGCCTCTATTTCTTGT	0.567		NaN											0	0	0	0.139131	0	46	152				
EID2B	126272	broad.mit.edu	37	19	40023151	40023151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:40023151C>G	uc002olz.1	-	1	344	c.292G>C	c.(292-294)GAG>CAG	p.E98Q		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation	98					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGATACTCGCGGAACAAC	0.612		NaN											0	0	0	0.038147	0	7	52				
MEGF8	1954	broad.mit.edu	37	19	42848852	42848852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:42848852C>G	uc002otl.3	+	12	2599	c.1964C>G	c.(1963-1965)TCA>TGA	p.S655*	MEGF8_uc002otm.3_Nonsense_Mutation_p.S196*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	705	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GAGCAGATCTCAGGCACTGTG	0.687		NaN											0	0	0	0.0333	0	13	43				
CEACAM1	634	broad.mit.edu	37	19	43026092	43026092	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:43026092G>A	uc002otv.2	-	3	800	c.687C>T	c.(685-687)GTC>GTT	p.V229V	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.V229V|CEACAM1_uc010eij.2_Silent_p.V229V|CEACAM1_uc002otx.2_Silent_p.V229V|CEACAM1_uc002oty.2_Silent_p.V229V|CEACAM1_uc002otz.2_Silent_p.V229V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.V229V|CEACAM1_uc002oub.2_Silent_p.V229V|CEACAM1_uc002ouc.2_Silent_p.V229V	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	229	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CATTCAAGGTGACTGGGTCAC	0.557		NaN											0	0	0	0.092188	0	40	131				
ZNF575	284346	broad.mit.edu	37	19	44039832	44039832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:44039832G>C	uc002ows.2	+	4	1259	c.731G>C	c.(730-732)AGA>ACA	p.R244T	ZNF575_uc002owq.2_Missense_Mutation_p.R343T	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				AAGGGGGAGAGAGACTGAGCC	0.612		NaN											0	0	0	0.021553	0	5	19				
CBLC	23624	broad.mit.edu	37	19	45285644	45285644	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:45285644C>G	uc002ozs.2	+	4	738	c.675C>G	c.(673-675)CTC>CTG	p.L225L	CBLC_uc010ejt.2_Silent_p.L225L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	225	SH2-like.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAACACTCCTCAAGAACTGGC	0.612		NaN	M		AML								0	0	0	0.144211	0	25	122				
TBC1D17	79735	broad.mit.edu	37	19	50387619	50387619	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:50387619C>T	uc002pqo.2	+	11	1388	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	TBC1D17_uc010ybg.1_Silent_p.F379F|TBC1D17_uc002pqp.2_Silent_p.F63F|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Silent_p.F63F|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	412	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTATCACTTCGACCTCGGTG	0.662		NaN											0	0	0	0.139131	0	51	207				
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	G	rs2739452		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:51361378C>G	uc002pts.1	+	3	341	c.300C>G	c.(298-300)CTC>CTG	p.L100L	KLK3_uc010ycj.1_Silent_p.L100L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	100	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582		NaN											0	0	0	0.021553	0	6	46				
LILRA3	11026	broad.mit.edu	37	19	54802062	54802062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54802062G>A	uc002qfd.2	-	6	1191	c.1126C>T	c.(1126-1128)CAT>TAT	p.H376Y	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.H312Y	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	376	Ig-like C2-type 4.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTACTTATGAGATTGGCGC	0.577		NaN											0	0	0	0.059317	0	33	103				
TTYH1	57348	broad.mit.edu	37	19	54932504	54932504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54932504C>G	uc002qfq.2	+	3	451	c.359C>G	c.(358-360)TCC>TGC	p.S120C	TTYH1_uc010yey.1_Missense_Mutation_p.S169C|TTYH1_uc002qfr.2_Missense_Mutation_p.S120C|TTYH1_uc002qft.2_Missense_Mutation_p.S120C|TTYH1_uc002qfu.1_Missense_Mutation_p.S35C	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	120	Extracellular (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GATGGGGTGTCCCAGCTCAGC	0.627		NaN											0	0	0	0.058154	0	10	60				
NLRP9	338321	broad.mit.edu	37	19	56243927	56243927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56243927C>G	uc002qly.2	-	2	1298	c.1270G>C	c.(1270-1272)GAG>CAG	p.E424Q		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCACGCCCTCAGACTCAGAT	0.483		NaN											0	0	0	0.139131	0	49	187				
ZNF582	147948	broad.mit.edu	37	19	56895710	56895710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56895710C>T	uc002qmz.1	-	5	1235	c.1076G>A	c.(1075-1077)AGA>AAA	p.R359K	ZNF582_uc002qmy.2_Missense_Mutation_p.R390K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	359	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGTATGAATTCTCTGATGTCG	0.418		NaN											0	0	0	0.083992	0	25	193				
ZNF418	147686	broad.mit.edu	37	19	58438051	58438051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:58438051G>A	uc002qqs.1	-	4	1790	c.1498C>T	c.(1498-1500)CAT>TAT	p.H500Y	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H415Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	500	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTCTCTGATGAACACGAAAC	0.448		NaN											0	0	0	0.139131	0	150	94				
ZBTB45	84878	broad.mit.edu	37	19	59028353	59028353	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:59028353C>T	uc002qtd.2	-	2	980	c.688G>A	c.(688-690)GAG>AAG	p.E230K	ZBTB45_uc002qte.2_Missense_Mutation_p.E230K|ZBTB45_uc002qtf.2_Missense_Mutation_p.E230K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCCTGGCCCTCGCCTGGGCCG	0.672		NaN									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	51	270				
NTSR2	23620	broad.mit.edu	37	2	11798719	11798719	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:11798719G>A	uc002rbq.3	-	4	1193	c.1119C>T	c.(1117-1119)GTC>GTT	p.V373V		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	373	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACAGGGAGCTGACGGCTTCCA	0.562		NaN											0	0	0	0.083992	0	21	66				
APOB	338	broad.mit.edu	37	2	21233133	21233133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:21233133C>G	uc002red.2	-	26	6735	c.6607G>C	c.(6607-6609)GAT>CAT	p.D2203H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2203					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGATTTCATCAATAATATTA	0.239		NaN											0	0	0	0.076483	0	24	56				
CAD	790	broad.mit.edu	37	2	27460592	27460592	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:27460592G>A	uc002rji.2	+	29	4732	c.4570G>A	c.(4570-4572)GAG>AAG	p.E1524K	CAD_uc010eyw.2_Missense_Mutation_p.E1461K	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1524	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGCTGGCAGAGGCTGGCGC	0.647		NaN											0	0	0	0.09319	0	12	32				
SRBD1	55133	broad.mit.edu	37	2	45826690	45826690	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:45826690C>G	uc002rus.2	-	4	622	c.546G>C	c.(544-546)AAG>AAC	p.K182N		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	182					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTTGATTTTCTTTAAAGCGG	0.443		NaN											0	0	0	0.139131	0	56	254				
FSHR	2492	broad.mit.edu	37	2	49244635	49244635	+	Nonsense_Mutation	SNP	G	G	A	rs138079934	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:49244635G>A	uc002rww.2	-	4	441	c.367C>T	c.(367-369)CAA>TAA	p.Q123*	FSHR_uc002rwx.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbn.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	123	Extracellular (Potential).|LRR 4.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TACAGATATTGAAGGTTGGGA	0.398		NaN							Gonadal_Dysgenesis_46_XX				0	0	0	0.105934	0	14	52				
SPTBN1	6711	broad.mit.edu	37	2	54874297	54874297	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:54874297G>A	uc002rxu.2	+	24	5145	c.4896G>A	c.(4894-4896)AAG>AAA	p.K1632K	SPTBN1_uc002rxx.2_Silent_p.K1619K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1632	Interaction with ANK2.|Spectrin 13.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCATGTTGAAGAAGCACCAGA	0.552		NaN											0	0	0	0.0918	0	25	89				
LOXL3	84695	broad.mit.edu	37	2	74779555	74779555	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:74779555G>A	uc002smp.1	-	2	279	c.207C>T	c.(205-207)ATC>ATT	p.I69I	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.I69I|LOXL3_uc002smq.1_Silent_p.I69I|LOXL3_uc010ffn.1_Silent_p.I69I|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	69	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CATCATCGCAGATGGTGCCCC	0.652		NaN											0	0	0	0.069288	0	21	46				
LMAN2L	81562	broad.mit.edu	37	2	97373526	97373526	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:97373526C>G	uc002swu.2	-	7	865	c.829G>C	c.(829-831)GAG>CAG	p.E277Q	LMAN2L_uc002swv.2_Missense_Mutation_p.E288Q|LMAN2L_uc010yut.1_Missense_Mutation_p.E143Q|LMAN2L_uc010yuu.1_Missense_Mutation_p.E141Q|LMAN2L_uc010yuv.1_Missense_Mutation_p.E130Q|LMAN2L_uc010yuw.1_Missense_Mutation_p.E132Q|LMAN2L_uc002sww.2_Missense_Mutation_p.E130Q|LMAN2L_uc010yux.1_Missense_Mutation_p.E132Q	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	277	Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						GGGGTTCTCTCCACTGTCAGT	0.453		NaN											0	0	0	0.086207	0	40	109				
RGPD4	285190	broad.mit.edu	37	2	108488568	108488568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:108488568G>C	uc010ywk.1	+	20	4190	c.4108G>C	c.(4108-4110)GAT>CAT	p.D1370H	RGPD4_uc002tdu.2_Missense_Mutation_p.D557H|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1370	RanBD1 2.				intracellular transport		binding			skin(2)	2						ATATGATAAAGATGTTGGTCA	0.358		NaN											0	0	0	0.02938	0	6	373				
GCC2	9648	broad.mit.edu	37	2	109100719	109100719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:109100719G>A	uc002tec.2	+	13	3719	c.3565G>A	c.(3565-3567)GAA>AAA	p.E1189K	GCC2_uc002ted.2_Missense_Mutation_p.E1088K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1189	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						TTTGGAGCAAGAAATAAAAAT	0.254		NaN											0	0	0	0.049695	0	21	50				
DDX18	8886	broad.mit.edu	37	2	118582552	118582552	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:118582552C>T	uc002tlh.1	+	9	1342	c.1243C>T	c.(1243-1245)CTG>TTG	p.L415L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	415	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						GAGATTCCTTCTGCTCTTTAC	0.368		NaN											0	0	0	0.074837	0	40	138				
TMEM37	140738	broad.mit.edu	37	2	120194518	120194518	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:120194518C>T	uc002tly.2	+	2	109	c.75C>T	c.(73-75)TTC>TTT	p.F25F		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	25	Helical; (Potential).					integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1						TTGAATCCTTCATCCGGACCC	0.617		NaN											0	0	0	0.064281	0	37	57				
RAB3GAP1	22930	broad.mit.edu	37	2	135883809	135883809	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:135883809G>A	uc002tuj.2	+	10	914	c.889G>A	c.(889-891)GAT>AAT	p.D297N	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.D297N|RAB3GAP1_uc010fng.2_Missense_Mutation_p.D122N|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	297						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTGGATAATGATGTTTATTC	0.308		NaN											0	0	0	0.116897	0	28	86				
NEB	4703	broad.mit.edu	37	2	152349881	152349881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:152349881C>T	uc010fnx.2	-	143	19374	c.19183G>A	c.(19183-19185)GAA>AAA	p.E6395K	NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.E164K|NEB_uc002txq.2_Missense_Mutation_p.E274K|NEB_uc010zca.1_Missense_Mutation_p.E226K|NEB_uc010zcb.1_Missense_Mutation_p.E164K	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6395	Nebulin 176.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAATGTTTTCTTGGTTGCGC	0.383		NaN											0	0	0	0.132662	0	14	40				
NOSTRIN	115677	broad.mit.edu	37	2	169717349	169717349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:169717349G>A	uc002ueg.2	+	14	1228	c.1224G>A	c.(1222-1224)ATG>ATA	p.M408I	NOSTRIN_uc002uef.2_Missense_Mutation_p.M465I|NOSTRIN_uc002uei.2_Missense_Mutation_p.M291I|NOSTRIN_uc010fpu.2_Missense_Mutation_p.M380I|NOSTRIN_uc002ueh.2_Missense_Mutation_p.M330I|NOSTRIN_uc002uej.2_Missense_Mutation_p.M291I|NOSTRIN_uc002uek.2_Missense_Mutation_p.M92I	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	408					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						CTTTTTTAATGAAGAGATTAG	0.378		NaN											0	0	0	0.108266	0	26	75				
TTN	7273	broad.mit.edu	37	2	179440567	179440567	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179440567C>G	uc010zfg.1	-	275	62812	c.62588G>C	c.(62587-62589)AGA>ACA	p.R20863T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14558T|TTN_uc010zfi.1_Missense_Mutation_p.R14491T|TTN_uc010zfj.1_Missense_Mutation_p.R14366T|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21790							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAAGACTCTGACGTTCAC	0.502		NaN											0	0	0	0.139131	0	48	131				
TTN	7273	broad.mit.edu	37	2	179481949	179481949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179481949C>A	uc010zfg.1	-	204	40293	c.40069G>T	c.(40069-40071)GAA>TAA	p.E13357*	TTN_uc010zfh.1_Nonsense_Mutation_p.E7052*|TTN_uc010zfi.1_Nonsense_Mutation_p.E6985*|TTN_uc010zfj.1_Nonsense_Mutation_p.E6860*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14284							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTTTTTCCAATCCGGTA	0.323		NaN											1	0	0.004672	0.115264	0.005088	3	6				
TTN	7273	broad.mit.edu	37	2	179604510	179604510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179604510C>T	uc010zfh.1	-	46	13161	c.12937G>A	c.(12937-12939)GAA>AAA	p.E4313K	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4246K|TTN_uc010zfj.1_Missense_Mutation_p.E4121K|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCTATTTCCTCATATATA	0.378		NaN											0	0	0	0.139131	0	62	282				
TTN	7273	broad.mit.edu	37	2	179605584	179605584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179605584C>T	uc010zfh.1	-	46	12087	c.11863G>A	c.(11863-11865)GAA>AAA	p.E3955K	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3888K|TTN_uc010zfj.1_Missense_Mutation_p.E3763K|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3883							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGCTTTCAGGAGTGAGC	0.448		NaN											0	0	0	0.086207	0	38	146				
DNAH7	56171	broad.mit.edu	37	2	196636429	196636429	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:196636429C>T	uc002utj.3	-	61	11489	c.11388G>A	c.(11386-11388)CTG>CTA	p.L3796L	DNAH7_uc002uti.3_Silent_p.L279L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3796					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTATGGTCTTCAGTAACTTAT	0.378		NaN											0	0	0	0.139131	0	71	177				
SGOL2	151246	broad.mit.edu	37	2	201437629	201437629	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:201437629G>C	uc002uvw.2	+	7	2673	c.2560G>C	c.(2560-2562)GAA>CAA	p.E854Q	SGOL2_uc010zhd.1_Missense_Mutation_p.E854Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E854Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	854					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AACAATTTCTGAAAATCTACA	0.308		NaN											0	0	0	0.139131	0	48	144				
INO80D	54891	broad.mit.edu	37	2	206884568	206884568	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:206884568T>A	uc002vaz.3	-	7	1705	c.1300A>T	c.(1300-1302)ATA>TTA	p.I434L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	434					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GTCCGGCTTATGCTAAGGAAA	0.418		NaN											0	0	0	0.02938	0	7	36				
NDUFS1	4719	broad.mit.edu	37	2	207009718	207009718	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:207009718A>C	uc002vbe.2	-	9	897	c.770T>G	c.(769-771)GTT>GGT	p.V257G	NDUFS1_uc010ziq.1_Missense_Mutation_p.V271G|NDUFS1_uc010zir.1_Missense_Mutation_p.V221G|NDUFS1_uc010zis.1_Missense_Mutation_p.V200G|NDUFS1_uc010zit.1_Missense_Mutation_p.V146G|NDUFS1_uc010ziu.1_Missense_Mutation_p.V141G	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	257					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATTACTTCCAACCGCATCCAT	0.393		NaN											0	0	0	0.049695	0	20	77				
DNPEP	23549	broad.mit.edu	37	2	220246839	220246839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:220246839C>T	uc010zlg.1	-	11	1065	c.983G>A	c.(982-984)GGA>GAA	p.G328E	DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.G320E|DNPEP_uc002vlf.1_Missense_Mutation_p.G306E|DNPEP_uc002vlh.2_Missense_Mutation_p.G267E|DNPEP_uc002vli.1_Missense_Mutation_p.G267E	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	310					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGACTGTGCTCCCTGTGCACT	0.602		NaN											0	0	0	0.021553	0	6	20				
SH3BP4	23677	broad.mit.edu	37	2	235943740	235943740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:235943740G>A	uc002vvp.2	+	3	487	c.94G>A	c.(94-96)GAG>AAG	p.E32K	SH3BP4_uc010fym.2_Missense_Mutation_p.E32K|SH3BP4_uc002vvq.2_Missense_Mutation_p.E32K	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	32					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGGGTTTTCAGAGACGAGCTT	0.532		NaN											0	0	0	0.038147	0	8	36				
COL6A3	1293	broad.mit.edu	37	2	238277324	238277324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238277324G>C	uc002vwl.2	-	10	5067	c.4782C>G	c.(4780-4782)TTC>TTG	p.F1594L	COL6A3_uc002vwo.2_Missense_Mutation_p.F1388L|COL6A3_uc010znj.1_Missense_Mutation_p.F987L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1594	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGCACTGTGAAGACCAGTC	0.547		NaN											0	0	0	0.059317	0	33	229				
COL6A3	1293	broad.mit.edu	37	2	238283544	238283544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238283544G>A	uc002vwl.2	-	8	3475	c.3190C>T	c.(3190-3192)CGG>TGG	p.R1064W	COL6A3_uc002vwo.2_Missense_Mutation_p.R858W|COL6A3_uc010znj.1_Missense_Mutation_p.R457W|COL6A3_uc002vwq.2_Missense_Mutation_p.R858W|COL6A3_uc002vwr.2_Missense_Mutation_p.R657W	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1064	Nonhelical region.|VWFA 6.		R -> Q (in UCMD).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGCGGACCCGGTCCTGGCCC	0.592		NaN											0	0	0	0.105934	0	13	31				
HNF4A	3172	broad.mit.edu	37	20	43030114	43030114	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:43030114G>A	uc002xma.2	+	1	191	c.102G>A	c.(100-102)TTG>TTA	p.L34L	HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Silent_p.L34L|HNF4A_uc002xlz.2_Silent_p.L34L|HNF4A_uc010ggq.2_5'UTR	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	34					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCAGGTGTTGACGATGGGCA	0.587		NaN											0	0	0	0.021553	0	5	36				
C20orf85	128602	broad.mit.edu	37	20	56728657	56728657	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:56728657G>A	uc002xyv.2	+	2	164	c.126G>A	c.(124-126)GGG>GGA	p.G42G		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	42										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGAACTGGGGGTTTTTAACAA	0.428		NaN											0	0	0	0.083992	0	24	106				
CDH4	1002	broad.mit.edu	37	20	60419818	60419818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:60419818C>G	uc002ybn.1	+	5	685	c.671C>G	c.(670-672)TCC>TGC	p.S224C	CDH4_uc002ybp.1_Missense_Mutation_p.S150C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	224	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCATTGACTCCATGTCCGGC	0.617		NaN											0	0	0	0.146539	0	15	34				
NPBWR2	2832	broad.mit.edu	37	20	62737520	62737520	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:62737520A>C	uc011abt.1	-	1	665	c.665T>G	c.(664-666)GTG>GGG	p.V222G		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	222	Helical; Name=5; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACGGGCAGCACGAAGCCCAG	0.657		NaN											0	0	0	0.069234	0	8	19				
KRTAP24-1	643803	broad.mit.edu	37	21	31654758	31654758	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:31654758G>C	uc002ynv.2	-	1	519	c.493C>G	c.(493-495)CTA>GTA	p.L165V		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	165						keratin filament	structural molecule activity				0						CAGTGGTTTAGAGTTTGGAAA	0.443		NaN											0	0	0	0.104719	0	40	121				
DYRK1A	1859	broad.mit.edu	37	21	38862650	38862650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:38862650G>C	uc002ywk.2	+	6	913	c.838G>C	c.(838-840)GAA>CAA	p.E280Q	DYRK1A_uc002ywi.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywj.2_Missense_Mutation_p.E271Q|DYRK1A_uc002ywl.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywm.2_Missense_Mutation_p.E280Q|DYRK1A_uc011aei.1_Missense_Mutation_p.E41Q	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	280	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						TGCGACTCCAGAACTTAGTAT	0.428		NaN											0	0	0	0.014758	0	5	124				
CAND2	23066	broad.mit.edu	37	3	12858016	12858016	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:12858016T>A	uc003bxk.2	+	10	1634	c.1585T>A	c.(1585-1587)TGT>AGT	p.C529S	CAND2_uc003bxj.2_Missense_Mutation_p.C436S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	529	HEAT 11.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGTGATGGCCTGTGTGGCTGA	0.647		NaN											0	0	0	0.115264	0	3	37				
TBC1D5	9779	broad.mit.edu	37	3	17349598	17349598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:17349598C>T	uc003cbf.2	-	14	2689	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K	TBC1D5_uc010heu.2_5'UTR|TBC1D5_uc010hev.2_Missense_Mutation_p.E342K|TBC1D5_uc003cbe.2_Missense_Mutation_p.E342K|TBC1D5_uc010hew.1_Missense_Mutation_p.E294K	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	342	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						AGGGGGAACTCTCGTCCAAAT	0.438		NaN											0	0	0	0.11911	0	11	14				
CCDC12	151903	broad.mit.edu	37	3	46963564	46963564	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:46963564T>G	uc003cqo.2	-	7	532	c.523A>C	c.(523-525)ACC>CCC	p.T175P		NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	162											0		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		GAGTCACAGGTCTTTTGTTCG	0.617		NaN											0	0	0	0.014758	0	4	14				
SETD2	29072	broad.mit.edu	37	3	47142947	47142947	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:47142947C>T	uc003cqs.2	-	8	5068	c.5015_splice	c.e8+1	p.G1672_splice	SETD2_uc003cqv.2_Splice_Site_p.G1739_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAATACTTACCCATATCTCT	0.358		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.09836	0	39	89		Valid		
PTPRG	5793	broad.mit.edu	37	3	62261595	62261595	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:62261595G>A	uc003dlb.2	+	24	4232	c.3513G>A	c.(3511-3513)CAG>CAA	p.Q1171Q	PTPRG_uc003dlc.2_Silent_p.Q1142Q|PTPRG_uc011bfi.1_Silent_p.Q417Q|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1171	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAGTGCTCAGAAAGAGTGTA	0.318		NaN											0	0	0	0.069288	0	20	27				
PPP4R2	151987	broad.mit.edu	37	3	73114035	73114035	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114035C>G	uc003dph.1	+	8	741	c.671C>G	c.(670-672)TCA>TGA	p.S224*	PPP4R2_uc003dpi.1_Nonsense_Mutation_p.S167*	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	224					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAAGTTTCCTCAGTGAGCCCT	0.378		NaN											0	0	0	0.083992	0	25	58				
PPP4R2	151987	broad.mit.edu	37	3	73114241	73114241	+	Silent	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114241C>A	uc003dph.1	+	8	947	c.877C>A	c.(877-879)CGG>AGG	p.R293R	PPP4R2_uc003dpi.1_Silent_p.R236R	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	293					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCGTTGTACCCGGCAGCACTG	0.348		NaN											1	0	0.004672	0.115264	0.005088	3	34				
C3orf52	79669	broad.mit.edu	37	3	111821711	111821711	+	Missense_Mutation	SNP	G	G	C	rs139531193	by1000genomes	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111821711G>C	uc003dyq.3	+	3	368	c.295G>C	c.(295-297)GAA>CAA	p.E99Q	C3orf52_uc011bhs.1_Missense_Mutation_p.E99Q|C3orf52_uc011bht.1_Missense_Mutation_p.E99Q	NM_024616	NP_078892	Q5BVD1	TTMP_HUMAN	TPA-induced transmembrane protein	99						endoplasmic reticulum membrane|integral to membrane					0						AGATGAAAATGAAATACTTGA	0.343		NaN											0	0	0	0.115264	0	2	5				
SLC9A10	285335	broad.mit.edu	37	3	111996650	111996650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111996650G>C	uc003dyu.2	-	5	598	c.376C>G	c.(376-378)CTG>GTG	p.L126V	SLC9A10_uc011bhu.1_Translation_Start_Site|SLC9A10_uc010hqc.2_Missense_Mutation_p.L126V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	126					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ACAGATGCCAGATGCCAAAGA	0.343		NaN											0	0	0	0.125774	0	29	95				
HEG1	57493	broad.mit.edu	37	3	124746337	124746337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:124746337G>A	uc003ehs.3	-	3	693	c.625C>T	c.(625-627)CAC>TAC	p.H209Y	HEG1_uc011bke.1_Missense_Mutation_p.H209Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	209	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GATGGCAGGTGAAGACTTTCT	0.453		NaN											0	0	0	0.021553	0	6	27				
TPRA1	131601	broad.mit.edu	37	3	127295478	127295478	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:127295478C>T	uc003ejl.2	-	5	771	c.480G>A	c.(478-480)CTG>CTA	p.L160L	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.L160L|TPRA1_uc010hsk.2_Silent_p.L160L|TPRA1_uc003ejn.2_Silent_p.L160L	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	160	Helical; Name=4; (Potential).				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						CAGAGTAGGCCAGGGACAGCA	0.617		NaN											0	0	0	0.115264	0	3	14				
EPHB1	2047	broad.mit.edu	37	3	134920360	134920360	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:134920360C>G	uc003eqt.2	+	12	2395	c.2175C>G	c.(2173-2175)CTC>CTG	p.L725L	EPHB1_uc003equ.2_Silent_p.L286L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	725	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGGGTATGCTCAGGGGCATCG	0.507		NaN											0	0	0	0.139131	0	54	139				
PCCB	5096	broad.mit.edu	37	3	136045670	136045670	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:136045670G>C	uc003eqy.1	+	11	1167	c.1116G>C	c.(1114-1116)GTG>GTC	p.V372V	PCCB_uc003eqz.1_Silent_p.V372V|PCCB_uc011bmc.1_Silent_p.V392V|PCCB_uc011bmd.1_Silent_p.V289V	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	372	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	ATTCATCTGTGAAAGGGGCTC	0.408		NaN											0	0	0	0.117977	0	44	208				
CP	1356	broad.mit.edu	37	3	148897410	148897410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:148897410G>A	uc003ewy.3	-	15	2847	c.2594C>T	c.(2593-2595)TCT>TTT	p.S865F	CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.S17F|CP_uc003ewx.3_Missense_Mutation_p.S646F|CP_uc003ewz.2_Missense_Mutation_p.S865F	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	865	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCAGCTCCAGATCTTTCTGG	0.333		NaN											0	0	0	0.09319	0	11	68				
PLCH1	23007	broad.mit.edu	37	3	155232664	155232664	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:155232664T>A	uc011bok.1	-	11	1721	c.1444A>T	c.(1444-1446)ACC>TCC	p.T482S	PLCH1_uc011boj.1_Missense_Mutation_p.T482S|PLCH1_uc011bol.1_Missense_Mutation_p.T464S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	482					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCAGTGGTCCCATTACTC	0.348		NaN											0	0	0	0.038395	0	18	55				
TRIM59	286827	broad.mit.edu	37	3	160156757	160156757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:160156757G>C	uc003fdm.2	-	3	410	c.215C>G	c.(214-216)TCT>TGT	p.S72C	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	72						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGGTAAAGATTCAATGCC	0.393		NaN											0	0	0	0.086207	0	41	123				
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	T	rs121913283		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:178952074G>T	uc003fjk.2	+	21	3286	c.3129G>T	c.(3127-3129)ATG>ATT	p.M1043I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(33)|p.M1043V(14)|p.M1043T(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAACAAATGAATGATGCAC	0.368		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	0	2.4375e-19	0.125774	2.7683e-19	28	55		Valid		
USP13	8975	broad.mit.edu	37	3	179399668	179399668	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:179399668T>A	uc003fkh.2	+	2	252	c.171T>A	c.(169-171)AAT>AAA	p.N57K	USP13_uc003fkf.2_Missense_Mutation_p.N57K	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	57					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCTTCTAGAATTCTGAAGGTG	0.423		NaN											0	0	0	0.139131	0	73	205				
IQCG	84223	broad.mit.edu	37	3	197616472	197616472	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:197616472C>G	uc003fyo.2	-	11	1457	c.1311G>C	c.(1309-1311)AAG>AAC	p.K437N	IQCG_uc003fyn.2_Missense_Mutation_p.K339N|IQCG_uc003fyp.2_Missense_Mutation_p.K437N|IQCG_uc003fym.2_Missense_Mutation_p.K138N	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	437											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGCCTCTCCTCTTATCCTTGC	0.443		NaN											0	0	0	0.014758	0	4	184				
JAKMIP1	152789	broad.mit.edu	37	4	6087327	6087327	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:6087327C>G	uc003giu.3	-	4	930	c.654G>C	c.(652-654)GTG>GTC	p.V218V	JAKMIP1_uc010idb.1_Silent_p.V218V|JAKMIP1_uc010idc.1_Silent_p.V53V|JAKMIP1_uc010idd.1_Silent_p.V218V|JAKMIP1_uc011bwc.1_Silent_p.V53V|JAKMIP1_uc003giv.3_Silent_p.V218V|JAKMIP1_uc010ide.2_Silent_p.V218V	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	218	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AGGCCAGAATCACACGGTCTT	0.522		NaN											0	0	0	0.059317	0	35	117				
WDR1	9948	broad.mit.edu	37	4	10083020	10083020	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:10083020G>A	uc003gmf.2	-	11	1528	c.1245C>T	c.(1243-1245)GTC>GTT	p.V415V	WDR1_uc003gmg.2_Silent_p.V275V|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	415					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCCGGGGCCGACGGCTACGC	0.567		NaN											0	0	0	0.132662	0	14	31				
ATP10D	57205	broad.mit.edu	37	4	47593107	47593107	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:47593107G>C	uc003gxk.1	+	23	4154	c.3990G>C	c.(3988-3990)CTG>CTC	p.L1330L	ATP10D_uc003gxl.1_Silent_p.L578L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1330	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTCCAATTCTGAGAGCTAAGC	0.413		NaN											0	0	0	0.134883	0	30	92				
GNRHR	2798	broad.mit.edu	37	4	68619664	68619664	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:68619664G>A	uc003hdn.2	-	1	2141	c.390C>T	c.(388-390)TTC>TTT	p.F130F	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.F130F	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	130	Helical; Name=3; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCACCATCATGAAGGCTGGGG	0.507		NaN											0	0	0	0.105934	0	12	42				
MANBA	4126	broad.mit.edu	37	4	103595103	103595103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:103595103G>A	uc003hwg.2	-	8	1185	c.1085C>T	c.(1084-1086)TCA>TTA	p.S362L	MANBA_uc011ces.1_Missense_Mutation_p.S305L	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	362					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCCTGGAATGAATCTGCTGG	0.368		NaN											0	0	0	0.074837	0	36	104				
LEF1	51176	broad.mit.edu	37	4	109004529	109004529	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:109004529G>A	uc003hyt.1	-	5	1276	c.621C>T	c.(619-621)ATC>ATT	p.I207I	LEF1_uc011cfj.1_Silent_p.I92I|LEF1_uc011cfk.1_Silent_p.I139I|LEF1_uc003hyu.1_Silent_p.I207I|LEF1_uc003hyv.1_Silent_p.I207I|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	207	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAGGTGGGGTGATCTGTCCAA	0.463		NaN											0	0	0	0.043863	0	18	39				
NAA15	80155	broad.mit.edu	37	4	140309202	140309202	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:140309202T>A	uc003ihu.1	+	20	2821	c.2565T>A	c.(2563-2565)AGT>AGA	p.S855R		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	855					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						ATGGAGATAGTTCTGCAGAAG	0.353		NaN											0	0	0	0.064281	0	36	85				
CLGN	1047	broad.mit.edu	37	4	141320087	141320087	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:141320087C>G	uc011chi.1	-	9	1020	c.802G>C	c.(802-804)GAA>CAA	p.E268Q	CLGN_uc003iii.2_Missense_Mutation_p.E268Q	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	268	Lumenal (Potential).|1-1.				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTGGGATCTTCAATTTCTTTG	0.408		NaN											0	0	0	0.047766	0	9	215				
SMARCA5	8467	broad.mit.edu	37	4	144469207	144469207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:144469207G>C	uc003ijg.2	+	22	3361	c.2899G>C	c.(2899-2901)GAA>CAA	p.E967Q		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	967	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					ATTTGACAAAGAAAATGTTTA	0.373		NaN											0	0	0	0.099896	0	27	69				
ARFIP1	27236	broad.mit.edu	37	4	153791962	153791962	+	Missense_Mutation	SNP	G	G	A	rs142219628		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:153791962G>A	uc003imz.2	+	4	536	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	ARFIP1_uc003inb.2_Intron|ARFIP1_uc003ina.2_Intron|ARFIP1_uc003inc.2_Missense_Mutation_p.R87Q|ARFIP1_uc011cij.1_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)					GCAGCTAGTCGACTGGCTCAG	0.443		NaN											0	0	0	0.049695	0	19	66				
ADCY2	108	broad.mit.edu	37	5	7817056	7817056	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:7817056C>T	uc003jdz.1	+	23	3028	c.2961C>T	c.(2959-2961)ATC>ATT	p.I987I	ADCY2_uc011cmo.1_Silent_p.I807I|ADCY2_uc010itm.1_Silent_p.I183I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	987	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGATGCCATCAACAAGCACT	0.502		NaN									OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.132662	0	15	52				
MARCH6	10299	broad.mit.edu	37	5	10391798	10391798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:10391798G>A	uc003jet.1	+	7	904	c.721G>A	c.(721-723)GAC>AAC	p.D241N	MARCH6_uc011cmu.1_Missense_Mutation_p.D193N|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.D136N	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	241	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ggaggaagatgaCGCTGGTGT	0.423		NaN											0	0	0	0.021553	0	6	18				
C5orf42	65250	broad.mit.edu	37	5	37185055	37185055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:37185055T>A	uc011cpa.1	-	25	4547	c.4316A>T	c.(4315-4317)GAA>GTA	p.E1439V	C5orf42_uc011coy.1_5'Flank|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.E514V|C5orf42_uc011cpb.1_Missense_Mutation_p.E320V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1439										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGTTTCTCTTCTTCAATTGG	0.428		NaN											0	0	0	0.117977	0	43	101				
PAIP1	10605	broad.mit.edu	37	5	43533846	43533846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:43533846C>T	uc003job.2	-	9	1493	c.1246G>A	c.(1246-1248)GAT>AAT	p.D416N	PAIP1_uc003joa.2_Missense_Mutation_p.D337N|PAIP1_uc010ivp.2_Missense_Mutation_p.D337N|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.D304N	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	416					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATACCTGGATCAGCTGCAGTG	0.358		NaN											0	0	0	0.134883	0	30	130		Valid		
ZFYVE16	9765	broad.mit.edu	37	5	79732916	79732916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:79732916C>T	uc003kgr.3	+	4	714	c.412C>T	c.(412-414)CAT>TAT	p.H138Y	ZFYVE16_uc010jak.1_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgp.2_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgq.3_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.H138Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	138					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAACTTAGTTCATGCAACCAA	0.358		NaN											0	0	0	0.146539	0	17	245				
NR2F1	7025	broad.mit.edu	37	5	92929285	92929285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:92929285G>A	uc003kkj.2	+	3	2696	c.1009G>A	c.(1009-1011)GAT>AAT	p.D337N		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	337					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCTGTCGGATGCGGCCCA	0.587		NaN											0	0	0	0.134883	0	28	90				
SLCO6A1	133482	broad.mit.edu	37	5	101834305	101834305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:101834305C>G	uc003knn.2	-	1	416	c.244G>C	c.(244-246)GAT>CAT	p.D82H	SLCO6A1_uc003kno.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knp.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knq.2_Missense_Mutation_p.D82H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	82	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACTGTCATCCACTTCTCCC	0.493		NaN											0	0	0	0.139131	0	61	115				
TSSK1B	83942	broad.mit.edu	37	5	112770004	112770004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:112770004G>A	uc003kqm.2	-	1	725	c.533C>T	c.(532-534)TCA>TTA	p.S178L	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	178	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATACGCTGGTGACCCACAGAA	0.567		NaN											0	0	0	0.038147	0	7	28				
MEGF10	84466	broad.mit.edu	37	5	126734416	126734416	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:126734416G>C	uc003kuh.3	+	8	1070	c.708G>C	c.(706-708)CAG>CAC	p.Q236H	MEGF10_uc010jdc.1_Missense_Mutation_p.Q236H|MEGF10_uc010jdd.1_Missense_Mutation_p.Q236H|MEGF10_uc003kui.3_Missense_Mutation_p.Q236H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	236	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGTGTGAGCAGAGATGCCCTT	0.507		NaN											0	0	0	0.069288	0	23	71				
FCHSD1	89848	broad.mit.edu	37	5	141025388	141025388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:141025388C>G	uc003llk.2	-	13	1312	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q	FCHSD1_uc010jgg.2_Missense_Mutation_p.E104Q|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	421									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCCGCTCCTGCTCCACC	0.642		NaN											0	0	0	0.047766	0	4	9				
GABRB2	2561	broad.mit.edu	37	5	160758051	160758051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:160758051C>T	uc003lys.1	-	9	1134	c.916G>A	c.(916-918)GAC>AAC	p.D306N	GABRB2_uc011deh.1_Missense_Mutation_p.D145N|GABRB2_uc003lyr.1_Missense_Mutation_p.D306N|GABRB2_uc003lyt.1_Missense_Mutation_p.D306N|GABRB2_uc010jiu.1_Missense_Mutation_p.D243N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	306	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTACATGTCAATGGCCTTC	0.483		NaN											0	0	0	0.139131	0	58	134				
PDLIM7	9260	broad.mit.edu	37	5	176910713	176910713	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:176910713C>G	uc003mhc.1	-	13	1391	c.1306G>C	c.(1306-1308)GAA>CAA	p.E436Q	PDLIM7_uc003mha.1_Missense_Mutation_p.E330Q|PDLIM7_uc003mhb.1_Missense_Mutation_p.E402Q|PDLIM7_uc003mhd.1_Missense_Mutation_p.E288Q|PDLIM7_uc003mhe.1_RNA	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	436	LIM zinc-binding 3.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTTCCTTCCAGGTTGATC	0.587		NaN											0	0	0	0.021553	0	6	27				
TBC1D9B	23061	broad.mit.edu	37	5	179318451	179318451	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:179318451G>A	uc003mlh.2	-	6	1009	c.972C>T	c.(970-972)TTC>TTT	p.F324F	TBC1D9B_uc003mli.2_Silent_p.F324F|TBC1D9B_uc003mlj.2_Silent_p.F324F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	324	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTGGAGATGAACATCTGGC	0.597		NaN											0	0	0	0.054565	0	32	61				
DSP	1832	broad.mit.edu	37	6	7581491	7581491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:7581491G>A	uc003mxp.1	+	23	5347	c.5068G>A	c.(5068-5070)GAA>AAA	p.E1690K	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1690	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGCGATAGAAGATAAAAG	0.458		NaN											0	0	0	0.134883	0	31	57				
HIST1H3I	8354	broad.mit.edu	37	6	27839872	27839872	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:27839872C>T	uc003njy.2	-	1	228	c.222G>A	c.(220-222)GAG>GAA	p.E74E		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CCTGTGCGATCTCCCGTACCA	0.622		NaN											0	0	0	0.116897	0	28	38				
BAT3	7917	broad.mit.edu	37	6	31617000	31617000	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:31617000G>A	uc003nvg.3	-	4	713	c.399C>T	c.(397-399)GTC>GTT	p.V133V	BAT3_uc003nvf.3_Silent_p.V133V|BAT3_uc003nvh.3_Silent_p.V133V|BAT3_uc003nvi.3_Silent_p.V133V|BAT3_uc011dnw.1_Silent_p.V133V|BAT3_uc011dnx.1_Silent_p.V133V|BAT3_uc003nvj.1_Silent_p.V133V	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	133					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TTCCAACCATGACATAGCTGT	0.552		NaN											0	0	0	0.117977	0	45	67				
TNXB	7148	broad.mit.edu	37	6	32017875	32017875	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:32017875G>A	uc003nzl.2	-	27	9535	c.9333C>T	c.(9331-9333)GTC>GTT	p.V3111V		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3158	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGAGATGGTGACCCCGTCCT	0.632		NaN											0	0	0	0.0333	0	15	14				
PPP2R5D	5528	broad.mit.edu	37	6	42978430	42978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:42978430G>C	uc003oth.2	+	14	1596	c.1510G>C	c.(1510-1512)GAG>CAG	p.E504Q	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.E472Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.E398Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.E353Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.E353Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.E335Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	504					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAAAGGGAAGAGATGTGGCA	0.542		NaN											0	0	0	0.069288	0	22	38				
CUL9	23113	broad.mit.edu	37	6	43156401	43156401	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:43156401G>C	uc003ouk.2	+	8	2203	c.2128G>C	c.(2128-2130)GAG>CAG	p.E710Q	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.E710Q|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	710					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TCAGGCTGTGGAGGAGGTCAC	0.577		NaN											0	0	0	0.11911	0	15	22				
COL12A1	1303	broad.mit.edu	37	6	75843060	75843060	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:75843060G>T	uc003phs.2	-	34	5909	c.5743C>A	c.(5743-5745)CCC>ACC	p.P1915T	COL12A1_uc003pht.2_Missense_Mutation_p.P751T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1915	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTATAAACGGGAACTACAGTC	0.373		NaN											1	0	5.61819e-17	0.108266	6.31302e-17	27	59				
RIPPLY2	134701	broad.mit.edu	37	6	84563822	84563822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:84563822G>A	uc003pke.2	+	3	332	c.181G>A	c.(181-183)GAT>AAT	p.D61N		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	61					somite rostral/caudal axis specification	nucleus					0						CCAGATGCCCGATGGCCCTGG	0.577		NaN											0	0	0	0.049695	0	17	34				
DGKB	1607	broad.mit.edu	37	7	14733765	14733765	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:14733765G>A	uc003ssz.2	-	8	833	c.646C>T	c.(646-648)CTG>TTG	p.L216L	DGKB_uc011jxt.1_Silent_p.L209L|DGKB_uc003sta.2_Silent_p.L216L|DGKB_uc011jxu.1_Silent_p.L216L|DGKB_uc011jxv.1_Silent_p.L216L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	216	EF-hand 2.|2 (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	CATTCCTCCAGAGACACGGTT	0.443		NaN											0	0	0	0.038147	0	6	7				
AHR	196	broad.mit.edu	37	7	17378911	17378911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:17378911G>T	uc011jxz.1	+	10	2075	c.1462G>T	c.(1462-1464)GAA>TAA	p.E488*	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	488					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTTTTTCAACGAATCTATGAA	0.398		NaN											1	0	8.01111e-26	0.117977	9.13094e-26	44	122				
GTF2IRD1	9569	broad.mit.edu	37	7	73933938	73933938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:73933938G>C	uc003uaq.2	+	6	1198	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E301Q|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E269Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E269Q	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	269						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CGCCATCCGAGAGCTCAAGCA	0.687		NaN											0	0	0	0.09319	0	12	45				
SRCRB4D	136853	broad.mit.edu	37	7	76033741	76033741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:76033741C>T	uc003ufb.2	-	2	364	c.16G>A	c.(16-18)GAG>AAG	p.E6K	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	6						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						ATTAGCATCTCTGCTTCCTTG	0.542		NaN											0	0	0	0.058154	0	10	71				
RSBN1L	222194	broad.mit.edu	37	7	77408178	77408178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:77408178C>G	uc010ldt.1	+	8	2278	c.2234C>G	c.(2233-2235)TCT>TGT	p.S745C	RSBN1L_uc003ugm.2_Missense_Mutation_p.S527C	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	745						nucleus				ovary(1)	1						AAACTTCATTCTAAATATGAA	0.363		NaN											0	0	0	0.050027	0	35	85				
ACN9	57001	broad.mit.edu	37	7	96810512	96810512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:96810512G>C	uc003uoo.3	+	2	1494	c.363G>C	c.(361-363)ATG>ATC	p.M121I		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	ACN9 homolog precursor	121					regulation of gluconeogenesis	mitochondrial intermembrane space					0	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					CTGAGTCTATGAAACCAAAAT	0.318		NaN											0	0	0	0.058154	0	9	30				
OR2F2	135948	broad.mit.edu	37	7	143633147	143633147	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:143633147C>G	uc011ktv.1	+	1	822	c.822C>G	c.(820-822)ATC>ATG	p.I274M		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					AGAAGCTGATCTCTGTCTTCT	0.483		NaN											0	0	0	0.083992	0	23	78				
SOX7	83595	broad.mit.edu	37	8	10584142	10584142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:10584142C>G	uc003wtf.2	-	2	352	c.273G>C	c.(271-273)AAG>AAC	p.K91N	SOX7_uc011kwz.1_Missense_Mutation_p.K143N|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	91	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CGTACGGCCTCTTCTGGGACA	0.602		NaN											0	0	0	0.047766	0	6	16				
MTUS1	57509	broad.mit.edu	37	8	17612647	17612647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:17612647C>G	uc003wxv.2	-	2	1144	c.670G>C	c.(670-672)GAT>CAT	p.D224H	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.D224H|MTUS1_uc010lsz.2_Missense_Mutation_p.D224H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	224						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CTTTCTCTATCATAAGTAGTT	0.418		NaN											0	0	0	0.083992	0	25	150				
UNC5D	137970	broad.mit.edu	37	8	35406937	35406937	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:35406937G>A	uc003xjr.1	+	2	559	c.231G>A	c.(229-231)GCG>GCA	p.A77A	UNC5D_uc003xjs.1_Silent_p.A72A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	77	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTGCAAAGCGAGGCCAGCCA	0.512		NaN											0	0	0	0.080935	0	12	39				
SDCBP	6386	broad.mit.edu	37	8	59494245	59494245	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:59494245G>C	uc003xtn.2	+	9	993	c.843G>C	c.(841-843)CGG>CGC	p.R281R	SDCBP_uc003xto.2_Silent_p.R280R|SDCBP_uc003xtr.2_Silent_p.R280R|SDCBP_uc003xtp.2_Silent_p.R275R|SDCBP_uc003xtq.2_Silent_p.R281R|SDCBP_uc003xts.2_Silent_p.R287R|SDCBP_uc011led.1_Silent_p.R222R	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	281					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCTCTTGTAGGATGGCACCAA	0.383		NaN											0	0	0	0.076483	0	24	71				
ZFHX4	79776	broad.mit.edu	37	8	77764240	77764240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:77764240C>T	uc003yav.2	+	10	5335	c.4948C>T	c.(4948-4950)CAG>TAG	p.Q1650*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q1695*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q1650*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1650	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCACAAATTCAGATGCAACT	0.428		NaN								HNSCC(33;0.089)			0	0	0	0.069288	0	23	61				
COX6C	1345	broad.mit.edu	37	8	100904266	100904266	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:100904266G>C	uc003yiy.1	-	2	44	c.-16C>G	c.(-18--14)ATCAA>ATGAA			NM_004374	NP_004365	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc proprotein						respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity		HMGA2/COX6C(2)	soft_tissue(2)	2			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TACTGTCCTTGATACGTAtgc	0.279		NaN	T	HMGA2	uterine leiomyoma								0	0	0	0.134883	0	28	73				
DPYS	1807	broad.mit.edu	37	8	105459566	105459566	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:105459566C>T	uc003yly.3	-	3	718	c.589G>A	c.(589-591)GAC>AAC	p.D197N		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	197					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAATTAAGTCTCCATTTTCC	0.453		NaN											0	0	0	0.09319	0	12	34				
OXR1	55074	broad.mit.edu	37	8	107763046	107763046	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:107763046G>A	uc011lht.1	+	16	2601	c.2502G>A	c.(2500-2502)GCG>GCA	p.A834A	OXR1_uc003ymf.2_Silent_p.A806A|OXR1_uc011lhu.1_Silent_p.A799A|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.A462A|OXR1_uc003ymk.2_Silent_p.A203A|OXR1_uc003yml.2_Silent_p.A176A	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	834	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAGAATTTGCGCTTTGGCTTG	0.323		NaN											0	0	0	0.0918	0	25	115				
CSMD3	114788	broad.mit.edu	37	8	113348981	113348981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:113348981G>A	uc003ynu.2	-	44	7078	c.6919C>T	c.(6919-6921)CAA>TAA	p.Q2307*	CSMD3_uc003yns.2_Nonsense_Mutation_p.Q1509*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Q2267*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Q2203*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.Q18*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2307	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAACAATCTTGAAAGTTTGGA	0.373		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.064281	0	34	135				
MTBP	27085	broad.mit.edu	37	8	121530149	121530149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:121530149C>T	uc003ypc.1	+	19	2350	c.2305C>T	c.(2305-2307)CAC>TAC	p.H769Y		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	769	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAATAGTAATCACTATCATCA	0.393		NaN											0	0	0	0.0918	0	25	79				
FREM1	158326	broad.mit.edu	37	9	14776080	14776080	+	Missense_Mutation	SNP	C	C	T	rs61735747	by1000genomes	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:14776080C>T	uc003zlm.2	-	25	5154	c.4564G>A	c.(4564-4566)GTG>ATG	p.V1522M	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.V58M	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1522	CSPG 11.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAGGCCCACGGCCCCTTGG	0.617		NaN											0	0	0	0.108266	0	27	67				
HAUS6	54801	broad.mit.edu	37	9	19082988	19082988	+	Missense_Mutation	SNP	C	C	G	rs146901356		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:19082988C>G	uc003znk.2	-	8	1006	c.753G>C	c.(751-753)GAG>GAC	p.E251D	HAUS6_uc011lmz.1_Missense_Mutation_p.E6D|HAUS6_uc003znl.1_Missense_Mutation_p.E115D|HAUS6_uc003znm.1_Missense_Mutation_p.E6D	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	251					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						CAACTTCTCTCTCTTTTTCCA	0.353		NaN											0	0	0	0.049695	0	19	36				
KIF27	55582	broad.mit.edu	37	9	86457231	86457231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:86457231C>G	uc004ana.2	-	17	3786	c.3642G>C	c.(3640-3642)AAG>AAC	p.K1214N	KIF27_uc010mpw.2_Missense_Mutation_p.K1148N|KIF27_uc010mpx.2_Missense_Mutation_p.K1117N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1214	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GGCTGGTTTTCTTATAGAAAT	0.368		NaN											0	0	0	0.0918	0	23	45				
RNF20	56254	broad.mit.edu	37	9	104309797	104309797	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:104309797G>A	uc004bbn.2	+	9	1179	c.1089G>A	c.(1087-1089)CTG>CTA	p.L363L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	363	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGAAAAGCTGAAGGTAGGAA	0.448		NaN											0	0	0	0.069234	0	11	29				
ABCA1	19	broad.mit.edu	37	9	107547853	107547853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:107547853C>G	uc004bcl.2	-	49	6782	c.6469G>C	c.(6469-6471)GAT>CAT	p.D2157H	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2157					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAAAGAAATCCTGGACAGGC	0.438		NaN											0	0	0	0.059317	0	33	79				
TRIM32	22954	broad.mit.edu	37	9	119460323	119460323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:119460323G>A	uc004bjx.2	+	2	460	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R101Q	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	101					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						CTCATGTGTCGGTCCTGTGGG	0.597		NaN							Bardet-Biedl_syndrome				0	0	0	0.134883	0	25	78				
FIBCD1	84929	broad.mit.edu	37	9	133780649	133780649	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:133780649G>C	uc004bzz.2	-	6	1343	c.1098C>G	c.(1096-1098)CTC>CTG	p.L366L	FIBCD1_uc011mcc.1_Silent_p.L366L	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	366	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGCCACGGTGAGCGGGTACC	0.657		NaN											0	0	0	0.038147	0	7	24				
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:44969327G>T	uc004dge.3	+	28	4384	c.4009G>T	c.(4009-4011)GAG>TAG	p.E1337*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.E1389*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E1292*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E1344*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E1041*|KDM6A_uc011mld.1_Nonsense_Mutation_p.E976*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1337					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAACAGGTGGAGGTTTTTGA	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								1	0	0.00307968	0.038147	0.00337703	8	71		Valid		
APEX2	27301	broad.mit.edu	37	X	55033263	55033263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:55033263G>A	uc004dtz.2	+	6	1028	c.952G>A	c.(952-954)GCA>ACA	p.A318T	APEX2_uc011mom.1_Missense_Mutation_p.A147T	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	318					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						CTCTGTGCCTGCAAAACAGTG	0.567		NaN						Other_BER_factors					0	0	0	0.105934	0	13	24				
KIAA2022	340533	broad.mit.edu	37	X	73964271	73964271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:73964271G>C	uc004eby.2	-	3	738	c.121C>G	c.(121-123)CTA>GTA	p.L41V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	41					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GCAGCTTCTAGAGCTGCAAAT	0.463		NaN											0	0	0	0.105934	0	12	10				
CDR1	1038	broad.mit.edu	37	X	139865962	139865962	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:139865962G>A	uc004fbg.1	-	1	762	c.570C>T	c.(568-570)TTC>TTT	p.F190F	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	190	5 X 6 AA approximate repeats.|3.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACGTCTTCCAGAAAATCCATG	0.448		NaN											0	0	0	0.139131	0	69	139				
SDF4	51150	broad.mit.edu	37	1	1153867	1153867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1153867C>T	uc001adh.3	-	6	1212	c.883G>A	c.(883-885)GAC>AAC	p.D295N	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.D295N|SDF4_uc009vjv.2_Missense_Mutation_p.D173N|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	295	EF-hand 5.|5 (Potential).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACGATGCCGTCGTGGTTGGAG	0.642		NaN											0	0	0	0.001855	0	12	30				
FAM132A	388581	broad.mit.edu	37	1	1178268	1178268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1178268C>G	uc001adl.1	-	7	789	c.757G>C	c.(757-759)GAG>CAG	p.E253Q		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	253						extracellular region					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTTGCTCTCCAGGCCTGAG	0.682		NaN											0	0	0	0.009096	0	3	28				
SCNN1D	6339	broad.mit.edu	37	1	1225697	1225697	+	Missense_Mutation	SNP	C	C	T	rs137911309	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1225697C>T	uc001adu.1	+	12	1841	c.1217C>T	c.(1216-1218)TCC>TTC	p.S406F	SCNN1D_uc001adt.1_Missense_Mutation_p.S570F|SCNN1D_uc001adw.2_Missense_Mutation_p.S472F|SCNN1D_uc001adx.2_Missense_Mutation_p.S195F|SCNN1D_uc001adv.2_Missense_Mutation_p.S406F	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GAGACCTGCTCCTGTGGCTAC	0.672		NaN											0	0	0	0.008291	0	4	15				
SCNN1D	6339	broad.mit.edu	37	1	1226989	1226989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1226989G>A	uc001adu.1	+	17	2540	c.1916G>A	c.(1915-1917)TGA>TAA	p.*639*	SCNN1D_uc001adt.1_Silent_p.*803*|SCNN1D_uc001adw.2_Silent_p.*705*|SCNN1D_uc001adx.2_Silent_p.*428*|SCNN1D_uc001adv.2_Silent_p.*639*	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTGGACACCTGAACCAGACCT	0.677		NaN											0	0	0	0.012213	0	29	17				
PUSL1	126789	broad.mit.edu	37	1	1244841	1244841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1244841C>T	uc001aed.2	+	4	361	c.331C>T	c.(331-333)CGG>TGG	p.R111W	ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.1_5'UTR|PUSL1_uc009vjx.2_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	111					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGGGTCCTGCGGGCCTTCCG	0.672		NaN											0	0	0	0.001984	0	6	5				
MXRA8	54587	broad.mit.edu	37	1	1290312	1290312	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1290312G>A	uc001aew.2	-	5	730	c.699C>T	c.(697-699)GCC>GCT	p.A233A	MXRA8_uc001aex.3_Silent_p.A233A|MXRA8_uc001aey.3_Silent_p.A233A|MXRA8_uc010nyl.1_Silent_p.A233A|MXRA8_uc001aez.2_Silent_p.A132A|MXRA8_uc001afa.2_Silent_p.A224A	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	233	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCCCGTAGGCGCGGCGCT	0.721		NaN											0	0	0	0.000602	0	4	8				
CCNL2	81669	broad.mit.edu	37	1	1334489	1334489	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1334489C>T	uc001afi.2	-	1	230	c.198G>A	c.(196-198)TCG>TCA	p.S66S	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afh.2_Silent_p.S66S|CCNL2_uc001afj.2_Silent_p.S66S|CCNL2_uc001afk.2_Silent_p.S66S|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	66					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGAGGCCGCTCGACATGGACG	0.672		NaN											0	0	0	0.001168	0	4	36				
ATAD3A	55210	broad.mit.edu	37	1	1459719	1459719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1459719C>T	uc001afz.1	+	11	1394	c.1300C>T	c.(1300-1302)CGG>TGG	p.R434W	ATAD3A_uc001aga.1_Missense_Mutation_p.R386W|ATAD3A_uc001agb.1_Missense_Mutation_p.R307W	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	434							ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CCCCATGGGGCGGGAAGGCGT	0.647		NaN											0	0	0	0.010729	0	8	59				
GNB1	2782	broad.mit.edu	37	1	1720630	1720630	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720630C>T	uc001aif.2	-	10	1110	c.778G>A	c.(778-780)GAG>AAG	p.E260K	GNB1_uc009vky.2_Missense_Mutation_p.E160K	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	260					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCATGAGCTCCTGGTCAGCA	0.527		NaN									OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007835	0	39	31				
GNB1	2782	broad.mit.edu	37	1	1720636	1720636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720636C>T	uc001aif.2	-	10	1104	c.772G>A	c.(772-774)GAC>AAC	p.D258N	GNB1_uc009vky.2_Missense_Mutation_p.D158N	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	258					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGCTCCTGGTCAGCACGAAGG	0.532		NaN									OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	9	61				
C1orf86	199990	broad.mit.edu	37	1	2125482	2125482	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2125482C>T	uc001aiy.2	-	2	179	c.153G>A	c.(151-153)CTG>CTA	p.L51L	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	51											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GATCCAGGATCAGCTCCGGGC	0.677		NaN											0	0	0	0.00333	0	24	58				
MORN1	79906	broad.mit.edu	37	1	2268254	2268254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2268254G>A	uc001ajb.1	-	11	1093	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	MORN1_uc009vld.2_Nonsense_Mutation_p.Q334*	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	358										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCCACTCGCTGACAGGCCCCG	0.652		NaN											0	0	0	0.001855	0	11	15				
C1orf93	127281	broad.mit.edu	37	1	2520475	2520475	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2520475C>G	uc001aju.1	+	6	651	c.575C>G	c.(574-576)CCT>CGT	p.P192R	C1orf93_uc001ajw.1_Silent_p.A181A|C1orf93_uc001ajv.1_Missense_Mutation_p.P210R|C1orf93_uc010nzd.1_Missense_Mutation_p.P188R|C1orf93_uc010nze.1_Missense_Mutation_p.P156R|C1orf93_uc010nzf.1_Missense_Mutation_p.P155R|C1orf93_uc001ajx.1_Missense_Mutation_p.L65V	NM_152371	NP_689584	Q8TBF2	PGFS_HUMAN	hypothetical protein LOC127281	192					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			central_nervous_system(1)	1	all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGCGACCCGCCTCAGGTGAGC	0.682		NaN											0	0	0	0.004007	0	15	29				
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3319489G>C	uc001akf.2	+	6	891	c.811G>C	c.(811-813)GAG>CAG	p.E271Q	PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	271					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.622		NaN	T	EVI1	MDS|AML								0	0	0	0.010729	0	11	49				
TPRG1L	127262	broad.mit.edu	37	1	3542350	3542350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3542350G>A	uc001akm.2	+	3	448	c.367G>A	c.(367-369)GAC>AAC	p.D123N	TPRG1L_uc009vlj.2_Intron	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	123						cell junction|synaptic vesicle					0	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CTGTAAATACGACTTCATCAG	0.547		NaN											0	0	0	0.00308	0	8	36				
WDR8	49856	broad.mit.edu	37	1	3547608	3547608	+	Silent	SNP	G	G	A	rs145375547		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3547608G>A	uc001ako.2	-	12	1422	c.1314C>T	c.(1312-1314)TTC>TTT	p.F438F	WDR8_uc001akn.3_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	438						centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGCAGAGGCAGAAGTGATCCT	0.592		NaN											0	0	0	0.011902	0	44	77				
CHD5	26038	broad.mit.edu	37	1	6195343	6195343	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6195343G>A	uc001amb.1	-	18	2917	c.2817C>T	c.(2815-2817)AAC>AAT	p.N939N	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	939					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCCGGCATGTTCTTGAACA	0.597		NaN											0	0	0	0.005443	0	27	83				
DNAJC11	55735	broad.mit.edu	37	1	6696217	6696217	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6696217C>T	uc001aof.2	-	15	1720	c.1614G>A	c.(1612-1614)GTG>GTA	p.V538V	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V486V|DNAJC11_uc010nzu.1_Silent_p.V448V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	538					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCATCACCTGATGCA	0.597		NaN											0	0	0	0.004656	0	27	36				
RERE	473	broad.mit.edu	37	1	8420690	8420690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:8420690C>T	uc001ape.2	-	19	3687	c.2877G>A	c.(2875-2877)ATG>ATA	p.M959I	RERE_uc001apf.2_Missense_Mutation_p.M959I|RERE_uc010nzx.1_Missense_Mutation_p.M691I|RERE_uc001apd.2_Missense_Mutation_p.M405I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	959	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTTGGCATTCATGGAGAAGG	0.687		NaN											0	0	0	0.00632	0	24	100				
SLC25A33	84275	broad.mit.edu	37	1	9613859	9613859	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:9613859C>T	uc001apw.2	+	2	455	c.232C>T	c.(232-234)CTG>TTG	p.L78L	SLC25A33_uc001apx.2_5'UTR	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	mitochondrial carrier protein MGC4399	78	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTCAGGTTCTGAAGTAAGT	0.493		NaN											0	0	0	0.00308	0	7	44				
RBP7	116362	broad.mit.edu	37	1	10067689	10067689	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10067689G>A	uc001aqq.2	+	2	197	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	RBP7_uc009vms.2_RNA	NM_052960	NP_443192	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	45						cytoplasm	retinal binding|retinol binding|transporter activity				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGATTGAGCAGAATGGGGATT	0.368		NaN											0	0	0	0.008871	0	20	62				
UBE4B	10277	broad.mit.edu	37	1	10195078	10195078	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10195078T>A	uc001aqs.3	+	16	2771	c.2058T>A	c.(2056-2058)TTT>TTA	p.F686L	UBE4B_uc001aqr.3_Missense_Mutation_p.F557L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.F141L|UBE4B_uc001aqt.1_Missense_Mutation_p.F26L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	686					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGATGGATTTATGCTGAATT	0.294		NaN											0	0	0	0.012319	0	21	93				
CLCN6	1185	broad.mit.edu	37	1	11882771	11882771	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:11882771G>A	uc001ate.3	+	6	479	c.366G>A	c.(364-366)CAG>CAA	p.Q122Q	CLCN6_uc009vnf.1_Silent_p.Q122Q|CLCN6_uc009vng.1_Silent_p.Q122Q|CLCN6_uc009vnh.1_Silent_p.Q122Q|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.Q100Q	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	122					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGCCAGAAAGGCTGCC	0.547		NaN											0	0	0	0.007835	0	42	93				
VPS13D	55187	broad.mit.edu	37	1	12304593	12304593	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12304593G>A	uc001atv.2	+	5	508	c.367_splice	c.e5-1	p.N123_splice	VPS13D_uc001atw.2_Splice_Site_p.N123_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1						protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTCTTTGTAGAATGACCGCC	0.458		NaN											0	0	0	0.01441	0	68	82				
VPS13D	55187	broad.mit.edu	37	1	12387712	12387712	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12387712G>A	uc001atv.2	+	36	8139	c.7998G>A	c.(7996-7998)TTG>TTA	p.L2666L	VPS13D_uc001atw.2_Silent_p.L2666L|VPS13D_uc001atx.2_Silent_p.L1854L|VPS13D_uc001aty.1_Silent_p.L404L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2666	UBA.				protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCCAATTGAAAAAGGCAG	0.473		NaN											0	0	0	0.01441	0	90	249				
PRDM2	7799	broad.mit.edu	37	1	14105194	14105194	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:14105194G>A	uc001avi.2	+	8	1760	c.904G>A	c.(904-906)GAA>AAA	p.E302K	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E302K|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E59K|PRDM2_uc001avk.2_Missense_Mutation_p.E101K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	302	Retinoblastoma protein binding.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CATGCCAAATGAAAATTCTGT	0.234		NaN											0	0	0	0.008871	0	21	72				
DNAJC16	23341	broad.mit.edu	37	1	15874821	15874821	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15874821G>C	uc001aws.2	+	7	1041	c.921G>C	c.(919-921)TTG>TTC	p.L307F	DNAJC16_uc001awr.1_Missense_Mutation_p.L307F|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	307	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGTGGGTTTGAGAGGGACGG	0.398		NaN											0	0	0	0.003271	0	35	72				
DDI2	84301	broad.mit.edu	37	1	15956939	15956939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15956939C>T	uc001awx.1	+	3	484	c.388C>T	c.(388-390)CAG>TAG	p.Q130*	DDI2_uc001aww.2_Nonsense_Mutation_p.Q130*|DDI2_uc009voj.1_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	130					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCATCTCCTCAGGGCTTGGA	0.562		NaN											0	0	0	0.014323	0	24	114				
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16053943C>T	uc010obo.1	+	9	1603	c.1376C>T	c.(1375-1377)TCA>TTA	p.S459L		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	459					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632		NaN											0	0	0	0.009096	0	4	12				
SPEN	23013	broad.mit.edu	37	1	16259146	16259146	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259146G>A	uc001axk.1	+	11	6615	c.6411G>A	c.(6409-6411)TTG>TTA	p.L2137L	SPEN_uc010obp.1_Silent_p.L2096L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2137	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATCCCAGTTGAAAAGTGATC	0.557		NaN											0	0	0	0.01441	0	75	153				
SPEN	23013	broad.mit.edu	37	1	16259289	16259289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259289C>T	uc001axk.1	+	11	6758	c.6554C>T	c.(6553-6555)TCT>TTT	p.S2185F	SPEN_uc010obp.1_Missense_Mutation_p.S2144F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2185	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAGGCCTCTGCCTCTGCT	0.622		NaN											0	0	0	0.01441	0	57	62				
ZBTB17	7709	broad.mit.edu	37	1	16269163	16269163	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269163C>T	uc001axl.3	-	14	2138	c.1899G>A	c.(1897-1899)GTG>GTA	p.V633V	ZBTB17_uc010obq.1_Silent_p.V550V|ZBTB17_uc010obr.1_Silent_p.V633V|ZBTB17_uc010obs.1_Silent_p.V557V	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	633	C2H2-type 12.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGGTCTTCACGTGGGAGC	0.592		NaN											0	0	0	0.013726	0	32	29				
ZBTB17	7709	broad.mit.edu	37	1	16269661	16269661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269661G>A	uc001axl.3	-	13	1965	c.1726C>T	c.(1726-1728)CAT>TAT	p.H576Y	ZBTB17_uc010obq.1_Missense_Mutation_p.H493Y|ZBTB17_uc010obr.1_Missense_Mutation_p.H576Y|ZBTB17_uc010obs.1_Missense_Mutation_p.H500Y	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	576	C2H2-type 10.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGAATATGATTGGCCAAC	0.587		NaN											0	0	0	0.012213	0	29	128				
CROCC	9696	broad.mit.edu	37	1	17257888	17257888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17257888G>A	uc001azt.2	+	8	1021	c.952G>A	c.(952-954)GAG>AAG	p.E318K	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.E81K	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	318	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GATGTTCACTGAGAGGTGAGG	0.587		NaN											0	0	0	0.01441	0	79	60				
PADI2	11240	broad.mit.edu	37	1	17409048	17409048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17409048C>T	uc001baf.2	-	10	1232	c.1150G>A	c.(1150-1152)GAG>AAG	p.E384K	PADI2_uc010ocm.1_Missense_Mutation_p.E268K|PADI2_uc001bag.1_Missense_Mutation_p.E384K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	384					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCAGGAGCTCCTTCACAGGG	0.483		NaN											0	0	0	0.012319	0	21	60				
IGSF21	84966	broad.mit.edu	37	1	18661457	18661457	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:18661457G>T	uc001bau.1	+	4	760	c.377G>T	c.(376-378)AGG>ATG	p.R126M		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	126	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCGCCACCAGGGAGAAGGTG	0.617		NaN											1	0	7.48243e-07	0.006214	7.68791e-07	9	22				
TAS1R2	80834	broad.mit.edu	37	1	19186032	19186032	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19186032G>C	uc001bba.1	-	1	124	c.123C>G	c.(121-123)CTC>CTG	p.L41L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	41	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTTGGCATGGAGGGAGAAGA	0.582		NaN											0	0	0	0.007835	0	43	45				
UBR4	23352	broad.mit.edu	37	1	19510379	19510379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19510379C>T	uc001bbi.2	-	17	2114	c.2110G>A	c.(2110-2112)GAA>AAA	p.E704K		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	704					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAAACTCTTCATCTGATGAA	0.443		NaN											0	0	0	0.003163	0	15	41				
KIAA0090	23065	broad.mit.edu	37	1	19559255	19559255	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19559255C>G	uc001bbo.2	-	15	1688	c.1645G>C	c.(1645-1647)GAG>CAG	p.E549Q	KIAA0090_uc001bbp.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E527Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	549	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GAGCTGCTCTCAATGCCAAAA	0.438		NaN											0	0	0	0.00623	0	38	131				
EIF4G3	8672	broad.mit.edu	37	1	21167472	21167472	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:21167472A>G	uc001bec.2	-	25	4026	c.3770T>C	c.(3769-3771)GTT>GCT	p.V1257A	EIF4G3_uc010odi.1_Missense_Mutation_p.V861A|EIF4G3_uc010odj.1_Missense_Mutation_p.V1256A|EIF4G3_uc009vpz.2_Missense_Mutation_p.V977A|EIF4G3_uc001bed.2_Missense_Mutation_p.V1257A|EIF4G3_uc001bef.2_Missense_Mutation_p.V1293A|EIF4G3_uc001bee.2_Missense_Mutation_p.V1263A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1257	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCACAAAAACATGTAGTAG	0.478		NaN											0	0	0	0.007291	0	29	70				
HSPG2	3339	broad.mit.edu	37	1	22173050	22173050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173050G>A	uc001bfj.2	-	63	8247	c.8207C>T	c.(8206-8208)TCA>TTA	p.S2736L	HSPG2_uc009vqd.2_Missense_Mutation_p.S2737L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2736	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGCCACGTGTGAGGAGGATGA	0.622		NaN											0	0	0	0.006122	0	18	67				
HSPG2	3339	broad.mit.edu	37	1	22173059	22173059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173059G>A	uc001bfj.2	-	63	8238	c.8198C>T	c.(8197-8199)TCA>TTA	p.S2733L	HSPG2_uc009vqd.2_Missense_Mutation_p.S2734L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2733	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGAGGAGGATGACTCAATTCT	0.627		NaN											0	0	0	0.004007	0	15	60				
HSPG2	3339	broad.mit.edu	37	1	22178312	22178312	+	Silent	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22178312A>T	uc001bfj.2	-	54	7018	c.6978T>A	c.(6976-6978)ACT>ACA	p.T2326T	HSPG2_uc009vqd.2_Silent_p.T2327T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2326	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTGGGTCCCAGTTACTGTGA	0.637		NaN											0	0	0	0.013537	0	12	37				
C1orf213	148898	broad.mit.edu	37	1	23696057	23696057	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:23696057G>A	uc001bgw.2	+	1	594	c.267G>A	c.(265-267)CTG>CTA	p.L89L	ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Intron	NM_138479	NP_612488			hypothetical protein LOC148898 isoform 1												0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCGTAGGCTGATCCTAAAGA	0.562		NaN											0	0	0	0.001168	0	5	30				
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24406673C>T	uc001bin.3	-	20	2582	c.2419G>A	c.(2419-2421)GAT>AAT	p.D807N	MYOM3_uc001bim.3_Missense_Mutation_p.D464N|MYOM3_uc001bio.2_Missense_Mutation_p.D807N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	807	Fibronectin type-III 5.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.453		NaN											0	0	0	0.00499	0	15	33				
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24768670C>T	uc001bjh.2	+	4	695	c.288C>T	c.(286-288)TTC>TTT	p.F96F	NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96	Helical; (Potential).					integral to membrane					0						CCTACGCCTTCGCGCCGCTGT	0.632		NaN											0	0	0	0.010504	0	19	75				
PAQR7	164091	broad.mit.edu	37	1	26190213	26190213	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26190213G>A	uc001bkx.2	-	2	785	c.118C>T	c.(118-120)CCG>TCG	p.P40S		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	40	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAGAGCGGCGGCACCTCA	0.622		NaN											0	0	0	0.00499	0	15	28				
CNKSR1	10256	broad.mit.edu	37	1	26509694	26509694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26509694G>A	uc001bln.3	+	7	689	c.631G>A	c.(631-633)GAA>AAA	p.E211K	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.E211K|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	211	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGCCTAGAAATTCACAC	0.627		NaN											0	0	0	0.01441	0	105	117				
PIGV	55650	broad.mit.edu	37	1	27121287	27121287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27121287C>T	uc001bmz.2	+	3	1093	c.762C>T	c.(760-762)CTC>CTT	p.L254L	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Silent_p.L254L|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Silent_p.L254L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	254	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CCTTTGCCCTCTTTCAGTATT	0.502		NaN											0	0	0	0.01441	0	46	130				
PIGV	55650	broad.mit.edu	37	1	27124267	27124267	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27124267C>T	uc001bmz.2	+	4	1745	c.1414C>T	c.(1414-1416)CTA>TTA	p.L472L	PIGV_uc001bmy.2_Silent_p.L237L|PIGV_uc009vso.2_Missense_Mutation_p.S465F|PIGV_uc010ofg.1_Silent_p.L237L|PIGV_uc001bna.2_Silent_p.L472L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	472	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACGATACATTCTAGGCTACTT	0.502		NaN											0	0	0	0.012319	0	19	62				
FCN3	8547	broad.mit.edu	37	1	27700864	27700864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27700864C>A	uc001boa.2	-	2	176	c.170G>T	c.(169-171)GGA>GTA	p.G57V	FCN3_uc001bob.2_Missense_Mutation_p.G57V	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	57	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGGGCTCCCTTCTCCCC	0.612		NaN											1	0	0.00010058	0.013537	0.000102565	11	29				
AHDC1	27245	broad.mit.edu	37	1	27875316	27875316	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27875316C>A	uc009vsy.2	-	6	4280	c.3311G>T	c.(3310-3312)GGG>GTG	p.G1104V	AHDC1_uc009vsz.1_Missense_Mutation_p.G1104V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.567		NaN											1	0	3.86212e-05	0.008291	3.94205e-05	10	49				
FGR	2268	broad.mit.edu	37	1	27939500	27939500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27939500G>C	uc001boj.2	-	11	1661	c.1515C>G	c.(1513-1515)TTC>TTG	p.F505L	FGR_uc001boi.2_Missense_Mutation_p.F208L|FGR_uc001bok.2_Missense_Mutation_p.F505L|FGR_uc001bol.2_Missense_Mutation_p.F505L|FGR_uc001bom.2_Missense_Mutation_p.F505L	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	505	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGGTACTCGAAGGTAGGCC	0.622		NaN											0	0	0	0.004482	0	8	36				
FGR	2268	broad.mit.edu	37	1	27950343	27950343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950343C>T	uc001boj.2	-	1	231	c.85G>A	c.(85-87)GGG>AGG	p.G29R	FGR_uc001bok.2_Missense_Mutation_p.G29R|FGR_uc001bol.2_Missense_Mutation_p.G29R|FGR_uc001bom.2_Missense_Mutation_p.G29R	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	29					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGCTGCCCCGTAGCTTCTG	0.587		NaN											0	0	0	0.010729	0	12	26				
FGR	2268	broad.mit.edu	37	1	27950351	27950351	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950351C>A	uc001boj.2	-	1	223	c.77G>T	c.(76-78)AGA>ATA	p.R26I	FGR_uc001bok.2_Missense_Mutation_p.R26I|FGR_uc001bol.2_Missense_Mutation_p.R26I|FGR_uc001bom.2_Missense_Mutation_p.R26I	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	26					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGTAGCTTCTGAAGTCCCC	0.587		NaN											1	0	4.3838e-07	0.001855	4.5106e-07	13	25				
C1orf38	9473	broad.mit.edu	37	1	28206495	28206495	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28206495C>T	uc001bpc.3	+	3	604	c.576C>T	c.(574-576)CTC>CTT	p.L192L	C1orf38_uc001boz.2_Silent_p.L192L|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L192L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	basement membrane-induced gene isoform 3	192	CABIT 1.				cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGTCCTCACCTGCCCCA	0.617		NaN											0	0	0	0.009096	0	4	8				
RAB42	115273	broad.mit.edu	37	1	28920495	28920495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28920495G>A	uc001bqu.2	+	2	490	c.184G>A	c.(184-186)GAT>AAT	p.D62N	RAB42_uc001bqv.2_Missense_Mutation_p.D62N	NM_152304	NP_689517	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	62					small GTPase mediated signal transduction	membrane	GTP binding				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTCGCTGATGCTATCCA	0.617		NaN											0	0	0	0.014323	0	23	11				
SPOCD1	90853	broad.mit.edu	37	1	32279666	32279666	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32279666C>G	uc001bts.1	-	2	1327	c.1269G>C	c.(1267-1269)AAG>AAC	p.K423N	SPOCD1_uc001btu.2_Missense_Mutation_p.K423N|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	423					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCTTCAGGTTCTTAGTGCCCT	0.622		NaN											0	0	0	0.010818	0	30	37				
CCDC28B	79140	broad.mit.edu	37	1	32670814	32670814	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32670814G>A	uc001bul.1	+	6	700	c.568G>A	c.(568-570)GAG>AAG	p.E190K	CCDC28B_uc001buk.2_3'UTR|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	190											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCACCTGGCCGAGAACGCCGA	0.607		NaN											0	0	0	0.009096	0	4	16				
YARS	8565	broad.mit.edu	37	1	33245125	33245125	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33245125C>T	uc001bvy.1	-	12	2123	c.1335_splice	c.e12-1	p.I445_splice	YARS_uc001bvw.1_Splice_Site_p.I105_splice|YARS_uc001bvx.1_Splice_Site_p.I96_splice	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TATCCCTTCTCTGGGAAGACA	0.562		NaN											0	0	0	0.007413	0	20	47				
YARS	8565	broad.mit.edu	37	1	33252626	33252626	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33252626C>T	uc001bvy.1	-	7	1523	c.735G>A	c.(733-735)CTG>CTA	p.L245L		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	245					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGCCTTCTTCAGTTTTTTCT	0.443		NaN											0	0	0	0.01441	0	57	45				
ZMYM6	9204	broad.mit.edu	37	1	35476590	35476590	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35476590C>T	uc001byh.2	-	9	1338	c.1110G>A	c.(1108-1110)CTG>CTA	p.L370L	ZMYM6_uc001byf.1_Silent_p.L370L|ZMYM6_uc010oht.1_Silent_p.L273L|ZMYM6_uc009vup.2_Silent_p.L176L|ZMYM6_uc009vuq.1_Silent_p.L370L|ZMYM6_uc009vur.1_Silent_p.L176L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	370	MYM-type 5.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGCCCTGAGACAGGGGCACCG	0.478		NaN											0	0	0	0.008871	0	17	51				
ZMYM1	79830	broad.mit.edu	37	1	35575944	35575944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35575944C>T	uc001bym.2	+	8	1005	c.857C>T	c.(856-858)TCA>TTA	p.S286L	ZMYM1_uc001byn.2_Missense_Mutation_p.S286L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S286L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S211L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	286						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAGCCCTCAGATGAAATG	0.353		NaN											0	0	0	0.012213	0	34	118				
KIAA0319L	79932	broad.mit.edu	37	1	35972601	35972601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35972601G>C	uc001byx.2	-	3	536	c.278C>G	c.(277-279)TCT>TGT	p.S93C	KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.S93C|KIAA0319L_uc010ohx.1_Missense_Mutation_p.S93C	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	93	MANSC.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGCAGGCAGAGTCCTGGCA	0.562		NaN											0	0	0	0.010729	0	7	29				
C1orf216	127703	broad.mit.edu	37	1	36181317	36181317	+	Silent	SNP	G	G	A	rs11554216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36181317G>A	uc001bzh.1	-	2	1094	c.606C>T	c.(604-606)TTC>TTT	p.F202F		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	202										skin(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATGGTGTCGAAGCTCTCCT	0.607		NaN									OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	31	90				
MAP7D1	55700	broad.mit.edu	37	1	36643602	36643602	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36643602C>A	uc001bzz.2	+	9	1724	c.1508C>A	c.(1507-1509)TCC>TAC	p.S503Y	MAP7D1_uc001caa.2_Missense_Mutation_p.S471Y|MAP7D1_uc001cab.2_Missense_Mutation_p.S466Y|MAP7D1_uc001cac.2_Missense_Mutation_p.S203Y|MAP7D1_uc001cad.2_Missense_Mutation_p.S49Y	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	503	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				ACCACTGCATCCCCCAAGGGG	0.701		NaN											1	0	0.00116845	0.001168	0.00118816	5	22				
RHBDL2	54933	broad.mit.edu	37	1	39352269	39352269	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39352269C>T	uc001ccu.1	-	8	1047	c.819G>A	c.(817-819)CTG>CTA	p.L273L	RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc010oio.1_Silent_p.L353L	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	273					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTGGATCTTTCAGCAGTGCTT	0.433		NaN											0	0	0	0.00632	0	28	94				
MACF1	23499	broad.mit.edu	37	1	39757669	39757669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39757669G>A	uc010ois.1	+	17	2093	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	MACF1_uc001cda.1_Missense_Mutation_p.E538K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	630					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACGAGTGTAGAAGAGCTGGG	0.507		NaN											0	0	0	0.003954	0	27	30				
MACF1	23499	broad.mit.edu	37	1	39919397	39919397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39919397G>C	uc010oiu.1	+	53	16221	c.16090G>C	c.(16090-16092)GAA>CAA	p.E5364Q	MACF1_uc010ois.1_Missense_Mutation_p.E4862Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGAAAGTAGAAGAAAAGCG	0.413		NaN											0	0	0	0.01441	0	92	84				
MACF1	23499	broad.mit.edu	37	1	39950348	39950348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39950348G>A	uc010oiu.1	+	63	17637	c.17506G>A	c.(17506-17508)GAT>AAT	p.D5836N	MACF1_uc010ois.1_Missense_Mutation_p.D5328N|MACF1_uc001cde.1_Missense_Mutation_p.D242N|MACF1_uc001cdf.1_Missense_Mutation_p.D211N|MACF1_uc001cdg.2_Missense_Mutation_p.D156N|MACF1_uc001cdh.2_Missense_Mutation_p.D119N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7286	Ser-rich.|C-terminal tail (By similarity).				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTTGCTGGTGATACCAGCAA	0.458		NaN											0	0	0	0.007835	0	39	145				
PABPC4	8761	broad.mit.edu	37	1	40041525	40041525	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40041525G>A	uc010oiv.1	-	1	997	c.99C>T	c.(97-99)CCC>CCT	p.P33P	PABPC4_uc001cdl.2_Silent_p.P33P|PABPC4_uc001cdm.2_Silent_p.P33P	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	33	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGGCCCCGCGGGGCTGAACT	0.647		NaN											0	0	0	0.001984	0	6	17				
ZNF643	65243	broad.mit.edu	37	1	40929203	40929203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40929203C>T	uc001cfn.1	+	5	1844	c.1547C>T	c.(1546-1548)TCA>TTA	p.S516L	ZNF643_uc001cfl.1_Missense_Mutation_p.S414L|ZNF643_uc001cfm.1_Missense_Mutation_p.S382L	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	516	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AGCTGTAGTTCATCCCTTATT	0.353		NaN											0	0	0	0.010504	0	20	73				
KCNQ4	9132	broad.mit.edu	37	1	41283961	41283961	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41283961C>T	uc001cgh.1	+	3	613	c.531C>T	c.(529-531)ATC>ATT	p.I177I	KCNQ4_uc001cgi.1_Silent_p.I177I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	177	Helical; Name=Segment S3; (Potential).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCTGTGTCATCGGTAATGAGG	0.647		NaN											0	0	0	0.003755	0	35	41				
EDN2	1907	broad.mit.edu	37	1	41949827	41949827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41949827G>A	uc001cgx.2	-	2	184	c.112C>T	c.(112-114)CAT>TAT	p.H38Y	EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA	NM_001956	NP_001947	P20800	EDN2_HUMAN	endothelin 2 preproprotein	38					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTGGGCATGAGATGAGGAC	0.627		NaN											0	0	0	0.013537	0	12	22				
FOXJ3	22887	broad.mit.edu	37	1	42647606	42647606	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42647606G>C	uc001che.2	-	14	2047	c.1735C>G	c.(1735-1737)CCA>GCA	p.P579A	FOXJ3_uc001chf.2_Missense_Mutation_p.P579A|FOXJ3_uc001chg.2_Missense_Mutation_p.P579A	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	579					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTGTTCCTGGAGTGCTGAGT	0.403		NaN											0	0	0	0.001984	0	7	25				
FOXJ3	22887	broad.mit.edu	37	1	42671497	42671497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42671497C>T	uc001che.2	-	8	878	c.566G>A	c.(565-567)GGA>GAA	p.G189E	FOXJ3_uc001chf.2_Missense_Mutation_p.G189E|FOXJ3_uc001chg.2_Missense_Mutation_p.G189E|FOXJ3_uc001chh.1_Intron	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	189					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACACTCCATTCCCAAAGAATC	0.318		NaN											0	0	0	0.004289	0	33	38				
ZMYND12	84217	broad.mit.edu	37	1	42921666	42921666	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42921666C>T	uc001chj.2	-	1	273	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ZMYND12_uc010ojt.1_5'UTR|PPCS_uc001chk.2_5'Flank|PPCS_uc001chl.2_5'Flank	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	1						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATCACATTCATGGTGCAGC	0.637		NaN											0	0	0	0.009096	0	4	16				
LEPRE1	64175	broad.mit.edu	37	1	43213045	43213045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:43213045G>A	uc001chv.2	-	14	2066	c.1953C>T	c.(1951-1953)TTC>TTT	p.F651F	LEPRE1_uc001chw.2_Silent_p.F651F|LEPRE1_uc001chx.3_Silent_p.F651F	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	651	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCTGAAGAGAATCCCACGG	0.592		NaN									OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	20	50				
PTPRF	5792	broad.mit.edu	37	1	44019601	44019601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44019601C>T	uc001cjr.2	+	5	708	c.368C>T	c.(367-369)TCA>TTA	p.S123L	PTPRF_uc001cjq.3_Missense_Mutation_p.S123L|PTPRF_uc001cjs.2_Missense_Mutation_p.S123L|PTPRF_uc001cjt.3_Missense_Mutation_p.S123L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Extracellular (Potential).|Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G123E(1)		ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602		NaN											0	0	0	0.013537	0	12	19				
SLC6A9	6536	broad.mit.edu	37	1	44477385	44477385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44477385G>A	uc001cll.2	-	2	289	c.97C>T	c.(97-99)CTC>TTC	p.L33F	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Intron|SLC6A9_uc009vxd.2_Intron|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	33	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGAACAGGGAGAAGCGTCACC	0.602		NaN											0	0	0	0.00245	0	14	48				
BEST4	266675	broad.mit.edu	37	1	45251772	45251772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45251772C>T	uc001cmm.2	-	4	659	c.610G>A	c.(610-612)GAT>AAT	p.D204N		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	204	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGAGCGATATCGTCACGTATT	0.502		NaN									OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	72	89				
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45266717G>A	uc001cmn.2	+	3	428	c.328G>A	c.(328-330)GAG>AAG	p.E110K	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587		NaN											0	0	0	0.006214	0	10	15				
NASP	4678	broad.mit.edu	37	1	46073665	46073665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46073665C>T	uc001coi.1	+	6	1184	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	NASP_uc010olq.1_Missense_Mutation_p.S324L|NASP_uc001coh.1_Missense_Mutation_p.S363L|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.S297L|NASP_uc001cok.1_Missense_Mutation_p.S244L	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	361	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGGCTGGATCAGAAGTCTCT	0.527		NaN											0	0	0	0.008291	0	7	80				
IPP	3652	broad.mit.edu	37	1	46211827	46211827	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46211827C>A	uc001cou.2	-	2	524	c.257G>T	c.(256-258)GGA>GTA	p.G86V	IPP_uc001cos.3_Missense_Mutation_p.G86V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	86	BTB.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTGAAAGATTCCTGCTTCAAT	0.358		NaN											1	0	5.03518e-11	0.007413	5.25558e-11	19	55				
MKNK1	8569	broad.mit.edu	37	1	47024307	47024307	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47024307C>T	uc001cqb.2	-	14	1582	c.1338G>A	c.(1336-1338)CGG>CGA	p.R446R	MKNK1_uc010omd.1_Silent_p.R310R|MKNK1_uc001cqc.2_Silent_p.R405R|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	446					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					GGGCCCGTCTCCGGGCCAGGC	0.627		NaN											0	0	0	0.00333	0	23	27				
CYP4Z1	199974	broad.mit.edu	37	1	47564903	47564903	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47564903G>A	uc001cqu.1	+	8	1017	c.1014G>A	c.(1012-1014)CAG>CAA	p.Q338Q		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	338	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						AGCATCAGCAGAGATGCCGAG	0.453		NaN											0	0	0	0.00333	0	24	60				
NRD1	4898	broad.mit.edu	37	1	52344197	52344197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52344197C>T	uc001ctc.3	-	1	413	c.91G>A	c.(91-93)GAA>AAA	p.E31K	NRD1_uc001ctd.3_Missense_Mutation_p.E31K|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Missense_Mutation_p.E31K|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	31					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CCCCGCGTTTCGATTCCCCAG	0.612		NaN											0	0	0	0.001168	0	6	23				
ZFYVE9	9372	broad.mit.edu	37	1	52805846	52805846	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52805846G>A	uc001cto.2	+	17	4054	c.3882G>A	c.(3880-3882)GTG>GTA	p.V1294V	ZFYVE9_uc001ctp.2_Silent_p.V1235V	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1294					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TAACAAATGTGAAGATATTCC	0.383		NaN											0	0	0	0.007413	0	19	71				
LRRC42	115353	broad.mit.edu	37	1	54428058	54428058	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:54428058C>T	uc001cwj.1	+	6	1103	c.903C>T	c.(901-903)TGC>TGT	p.C301C	LRRC42_uc001cwl.1_Silent_p.C301C|LRRC42_uc001cwk.1_Silent_p.C301C|LRRC42_uc009vzm.1_Silent_p.C301C	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	301											0						ATAGTAACTGCAAGACAGAGG	0.453		NaN											0	0	0	0.001168	0	6	24				
DHCR24	1718	broad.mit.edu	37	1	55352603	55352603	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352603G>A	uc001cyc.1	-	1	319	c.190C>T	c.(190-192)CCG>TCG	p.P64S	DHCR24_uc010ook.1_5'Flank	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	64	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						TGCAGGCGCGGAGCGCTGCTG	0.682		NaN											0	0	0	0.000602	0	5	11				
DHCR24	1718	broad.mit.edu	37	1	55352654	55352654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352654C>T	uc001cyc.1	-	1	268	c.139G>A	c.(139-141)GAT>AAT	p.D47N	DHCR24_uc010ook.1_5'Flank	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	47	Helical; (Potential).				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						TAGTAGATATCGAAGATAAGC	0.632		NaN											0	0	0	0.004482	0	6	14				
C8A	731	broad.mit.edu	37	1	57320598	57320598	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:57320598C>T	uc001cyo.2	+	1	156	c.24C>T	c.(22-24)ATC>ATT	p.I8I		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	8					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TTTTCTTCATCTTGTCTTTGA	0.433		NaN											0	0	0	0.00245	0	14	13				
DOCK7	85440	broad.mit.edu	37	1	63113920	63113920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63113920C>G	uc001daq.2	-	6	623	c.589G>C	c.(589-591)GAC>CAC	p.D197H	DOCK7_uc001dan.2_Missense_Mutation_p.D89H|DOCK7_uc001dao.2_Missense_Mutation_p.D89H|DOCK7_uc001dap.2_Missense_Mutation_p.D197H|DOCK7_uc009wah.1_Missense_Mutation_p.D197H	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	197					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TTTTTCAAGTCAAAGATACTA	0.363		NaN											0	0	0	0.014323	0	24	82				
ITGB3BP	23421	broad.mit.edu	37	1	63920112	63920112	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63920112G>A	uc001dba.1	-	6	397	c.366C>T	c.(364-366)CTC>CTT	p.L122L	ITGB3BP_uc001dbb.1_Silent_p.L161L|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.L144L|ITGB3BP_uc001dbe.1_Silent_p.L35L	NM_014288	NP_055103	Q13352	CENPR_HUMAN	integrin beta 3 binding protein	122					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0						AGATTCCAATGAGATTTTCAA	0.343		NaN											0	0	0	0.00245	0	15	53				
ROR1	4919	broad.mit.edu	37	1	64643416	64643416	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:64643416C>T	uc001dbj.2	+	9	2091	c.1692C>T	c.(1690-1692)CTC>CTT	p.L564L	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	564	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						ATGAGTTCCTCATCATGAGAT	0.483		NaN											0	0	0	0.00623	0	39	42				
WDR78	79819	broad.mit.edu	37	1	67299731	67299731	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67299731T>A	uc001dcx.2	-	12	1890	c.1834A>T	c.(1834-1836)ATA>TTA	p.I612L	WDR78_uc009waw.2_Missense_Mutation_p.I358L|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	612	WD 2.									ovary(2)	2						TCTGCTGATATAGAAACTAGT	0.363		NaN											0	0	0	0.00632	0	29	67				
C1orf141	400757	broad.mit.edu	37	1	67559011	67559011	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67559011C>G	uc001ddl.1	-	7	991	c.880G>C	c.(880-882)GAT>CAT	p.D294H	C1orf141_uc001ddm.1_Missense_Mutation_p.D294H|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	294										ovary(1)	1						AGTTTATCATCTACAGTTGTG	0.333		NaN											0	0	0	0.012213	0	34	118				
PTGER3	5733	broad.mit.edu	37	1	71512801	71512801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:71512801C>T	uc001dfg.1	-	1	691	c.460G>A	c.(460-462)GAG>AAG	p.E154K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E154K|PTGER3_uc001dfl.1_Missense_Mutation_p.E154K|PTGER3_uc009wbm.1_Missense_Mutation_p.E154K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E154K|PTGER3_uc009wbn.1_Missense_Mutation_p.E154K|PTGER3_uc009wbo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfp.1_Missense_Mutation_p.E154K|PTGER3_uc001dfq.2_Missense_Mutation_p.E154K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	154	Cytoplasmic (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	AGCGCCCGCTCGACGGCCATG	0.677		NaN											0	0	0	0.006214	0	9	4				
ELTD1	64123	broad.mit.edu	37	1	79385973	79385973	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:79385973G>A	uc001diq.3	-	10	1512	c.1356C>T	c.(1354-1356)TTC>TTT	p.F452F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	452	Helical; Name=1; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAATTTCACTGAAGAACCAGA	0.323		NaN											0	0	0	0.003954	0	25	74				
LPHN2	23266	broad.mit.edu	37	1	82417698	82417698	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:82417698G>C	uc001dit.3	+	9	1835	c.1654G>C	c.(1654-1656)GGG>CGG	p.G552R	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G552R|LPHN2_uc001div.2_Missense_Mutation_p.G552R|LPHN2_uc009wcd.2_Missense_Mutation_p.G552R|LPHN2_uc001diw.2_Missense_Mutation_p.G123R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	552	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACATACCAAAGGGCCAGTGTT	0.398		NaN											0	0	0	0.00632	0	30	40				
CLCA4	22802	broad.mit.edu	37	1	87029391	87029391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:87029391G>C	uc009wcs.2	+	4	540	c.496G>C	c.(496-498)GAT>CAT	p.D166H	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	166						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGAGTGTTTGATGAGTACAA	0.408		NaN											0	0	0	0.006122	0	17	52				
GBP3	2635	broad.mit.edu	37	1	89477538	89477538	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:89477538G>A	uc001dmt.2	-	7	1246	c.1041C>T	c.(1039-1041)ACC>ACT	p.T347T	GBP3_uc010oss.1_Silent_p.T268T|GBP3_uc001dmu.2_Silent_p.T213T|GBP3_uc001dmv.2_Intron	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	347						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCTCCTGGAGGGTTTCTGCGG	0.537		NaN											0	0	0	0.000602	0	5	54				
GFI1	2672	broad.mit.edu	37	1	92941706	92941706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:92941706G>A	uc001dou.3	-	7	1313	c.1149C>T	c.(1147-1149)CTC>CTT	p.L383L	GFI1_uc001dov.3_Silent_p.L383L|GFI1_uc001dow.3_Silent_p.L383L	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	383	C2H2-type 5.				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGGGTGATGAGGTTGGAGC	0.597		NaN											0	0	0	0.00308	0	6	10				
EVI5	7813	broad.mit.edu	37	1	93170239	93170239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:93170239G>A	uc001dox.2	-	3	354	c.344C>T	c.(343-345)TCT>TTT	p.S115F	EVI5_uc010otf.1_Missense_Mutation_p.S115F	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	115	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CACAAGAGAAGAGCCACTGTT	0.363		NaN											0	0	0	0.010818	0	33	96				
BCAR3	8412	broad.mit.edu	37	1	94033313	94033313	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94033313G>A	uc001dpz.2	-	10	2345	c.2070C>T	c.(2068-2070)CTC>CTT	p.L690L	BCAR3_uc001dqa.2_Silent_p.L690L|BCAR3_uc001dqb.2_Silent_p.L690L|BCAR3_uc001dpx.3_Silent_p.L366L|BCAR3_uc001dpy.2_Silent_p.L599L	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	690	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTCATGCAGGAGTTTGCTGA	0.547		NaN											0	0	0	0.00333	0	26	62				
BCAR3	8412	broad.mit.edu	37	1	94048275	94048275	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94048275G>A	uc001dpz.2	-	7	1544	c.1269C>T	c.(1267-1269)CTC>CTT	p.L423L	BCAR3_uc001dqa.2_Silent_p.L423L|BCAR3_uc001dqb.2_Silent_p.L423L|BCAR3_uc001dpx.3_Silent_p.L99L|BCAR3_uc001dpy.2_Silent_p.L332L|BCAR3_uc009wdm.1_Silent_p.L99L	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	423					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTCTGAGTTGAGCCAGGCAG	0.607		NaN											0	0	0	0.008871	0	20	47				
GCLM	2730	broad.mit.edu	37	1	94370097	94370097	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94370097G>A	uc001dqg.1	-	2	467	c.174C>T	c.(172-174)ATC>ATT	p.I58I		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	58					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATCTGGGTTGATTTGGGAAC	0.338		NaN											0	0	0	0.007413	0	16	79				
SNX7	51375	broad.mit.edu	37	1	99157196	99157196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:99157196G>A	uc010ouc.1	+	4	632	c.580G>A	c.(580-582)GAT>AAT	p.D194N	SNX7_uc001dsa.2_Missense_Mutation_p.D130N|SNX7_uc010oud.1_Intron	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a	130	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCGAATTGCTGATCATCCAAC	0.338		NaN											0	0	0	0.013537	0	11	52				
AGL	178	broad.mit.edu	37	1	100327239	100327239	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:100327239C>A	uc001dsi.1	+	3	663	c.263C>A	c.(262-264)TCT>TAT	p.S88Y	AGL_uc001dsj.1_Missense_Mutation_p.S88Y|AGL_uc001dsk.1_Missense_Mutation_p.S88Y|AGL_uc001dsl.1_Missense_Mutation_p.S88Y|AGL_uc001dsm.1_Missense_Mutation_p.S72Y|AGL_uc001dsn.1_Missense_Mutation_p.S71Y	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	88	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGCAACAATCTGGTTCATTT	0.313		NaN											1	0	5.35356e-11	0.00278	5.5852e-11	23	101				
PRMT6	55170	broad.mit.edu	37	1	107600219	107600219	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:107600219G>A	uc010ous.1	+	1	953	c.882G>A	c.(880-882)GTG>GTA	p.V294V		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	294					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGTTCCAGGTGACCTTCCCTG	0.652		NaN											0	0	0	0.008871	0	20	10				
FAM102B	284611	broad.mit.edu	37	1	109171130	109171130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109171130G>A	uc010ouy.1	+	8	846	c.766G>A	c.(766-768)GAA>AAA	p.E256K		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	256										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCCATGTGATGAAATTGAGCA	0.408		NaN											0	0	0	0.010818	0	30	83				
SARS	6301	broad.mit.edu	37	1	109756738	109756738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109756738G>C	uc001dwu.1	+	1	199	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	SARS_uc001dwt.1_Missense_Mutation_p.E42Q|SARS_uc001dwv.1_Missense_Mutation_p.E42Q|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.E42Q|SARS_uc009wfa.1_Missense_Mutation_p.E42Q|SARS_uc001dwy.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	42					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCAGACAGCGAGTGGCGACG	0.587		NaN											0	0	0	0.00308	0	6	21				
GNAI3	2773	broad.mit.edu	37	1	110129467	110129467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110129467G>C	uc001dxz.2	+	7	994	c.837G>C	c.(835-837)AAG>AAC	p.K279N		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	279					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAAAAATAAAGAGGAGTCCGT	0.348		NaN											0	0	0	0.004656	0	28	69				
GSTM2	2946	broad.mit.edu	37	1	110213924	110213924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110213924G>A	uc001dyi.2	+	6	690	c.376G>A	c.(376-378)GAA>AAA	p.E126K	GSTM2_uc001dyj.2_Missense_Mutation_p.E126K|GSTM2_uc010ovt.1_Missense_Mutation_p.E126K|GSTM2_uc009wfk.2_RNA	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	126	GST C-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTGAAACCAGAATACCTGCA	0.542		NaN											0	0	0	0.010818	0	33	33				
KCNC4	3749	broad.mit.edu	37	1	110766114	110766114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110766114G>A	uc001dzh.2	+	2	1264	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	KCNC4_uc001dzf.2_Missense_Mutation_p.E403K|KCNC4_uc009wfr.2_Missense_Mutation_p.E403K|KCNC4_uc001dzg.2_Missense_Mutation_p.E403K|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	403					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTACTACGCTGAGCGCATTGG	0.592		NaN											0	0	0	0.00278	0	24	88				
DDX20	11218	broad.mit.edu	37	1	112299299	112299299	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:112299299G>A	uc001ebs.2	+	2	690	c.333G>A	c.(331-333)GGG>GGA	p.G111G	C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	111	Helicase ATP-binding.|ATP.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCACCGGGAAAACCTGTG	0.428		NaN											0	0	0	0.010504	0	21	75				
PHTF1	10745	broad.mit.edu	37	1	114242367	114242367	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114242367G>C	uc009wgp.1	-	16	2553	c.2101C>G	c.(2101-2103)CTA>GTA	p.L701V	PHTF1_uc001edm.2_Missense_Mutation_p.L458V	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	701	Basic motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTTACTAGAGTAAGCTGT	0.284		NaN											0	0	0	0.009096	0	4	14				
AP4B1	10717	broad.mit.edu	37	1	114447326	114447326	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114447326C>T	uc001eeb.2	-	1	157	c.14G>A	c.(13-15)GGC>GAC	p.G5D	AP4B1_uc001eec.2_Missense_Mutation_p.G5D|AP4B1_uc001eed.2_Missense_Mutation_p.G5D|AP4B1_uc010owp.1_5'UTR|AP4B1_uc010owq.1_Missense_Mutation_p.G5D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	5					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTCGGAGCCAAGGTACGG	0.562		NaN											0	0	0	0.01441	0	87	75				
CASQ2	845	broad.mit.edu	37	1	116245548	116245548	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:116245548G>A	uc001efx.3	-	10	1272	c.1008C>T	c.(1006-1008)GTC>GTT	p.V336V	CASQ2_uc010owu.1_Silent_p.V265V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	336					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACATCTGTGACATTCACCA	0.483		NaN											0	0	0	0.004482	0	9	15				
MAN1A2	10905	broad.mit.edu	37	1	117910898	117910898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:117910898G>C	uc001ehd.1	+	1	814	c.93G>C	c.(91-93)TTG>TTC	p.L31F	MAN1A2_uc009whg.1_5'UTR	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	31	Cytoplasmic (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GGGCTACCTTGAGACTTTCTG	0.493		NaN											0	0	0	0.00632	0	29	90				
SPAG17	200162	broad.mit.edu	37	1	118624072	118624072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:118624072C>T	uc001ehk.2	-	14	2024	c.1956G>A	c.(1954-1956)ATG>ATA	p.M652I		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	652						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTCATTTTCATGACATATT	0.408		NaN											0	0	0	0.012213	0	32	107				
PDE4DIP	9659	broad.mit.edu	37	1	144952287	144952287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:144952287C>T	uc001elw.3	-	4	723	c.432G>A	c.(430-432)CTG>CTA	p.L144L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L210L|PDE4DIP_uc001emc.1_Silent_p.L144L|PDE4DIP_uc001emd.1_Silent_p.L144L|PDE4DIP_uc001emg.1_Silent_p.L144L|PDE4DIP_uc001emh.2_Silent_p.L281L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	144					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGACTCCCTTCAGTTTCTCTG	0.542		NaN	T	PDGFRB	MPD								0	0	0	0.010504	0	8	101				
PDE4DIP	9659	broad.mit.edu	37	1	145075044	145075044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145075044C>T	uc001emk.2	-	2	467	c.250G>A	c.(250-252)GAT>AAT	p.D84N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron			Q5VU43	MYOME_HUMAN	SubName: Full=Phosphodiesterase 4D interacting protein;	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCCAGCCATCAGGCAGGGCT	0.502		NaN	T	PDGFRB	MPD								0	0	0	0.006214	0	8	57				
NBPF10	100132406	broad.mit.edu	37	1	145293493	145293493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145293493G>A	uc001end.3	+	1	123	c.88G>A	c.(88-90)GAG>AAG	p.E30K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E30K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.E30K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	30											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCTGGCAGAGAAGAAACA	0.483		NaN											0	0	0	0.01441	0	40	685				
ANKRD35	148741	broad.mit.edu	37	1	145562892	145562892	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145562892T>G	uc001eob.1	+	10	2688	c.2580T>G	c.(2578-2580)TAT>TAG	p.Y860*	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Nonsense_Mutation_p.Y703*	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	860	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAAAAGTATAATACGGCCT	0.677		NaN											0	0	0	0.013537	0	10	2				
RNF115	27246	broad.mit.edu	37	1	145688151	145688151	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145688151G>A	uc001eoj.2	+	9	1050	c.846G>A	c.(844-846)CAG>CAA	p.Q282Q	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.Q249Q|RNF115_uc009wiy.2_Silent_p.Q201Q	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	282					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						GGCAAAGCCAGAGCACTGAGG	0.458		NaN											0	0	0	0.01441	0	49	114				
GPR89B	51463	broad.mit.edu	37	1	147408770	147408770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:147408770C>G	uc001epv.3	+	2	216	c.72C>G	c.(70-72)TTC>TTG	p.F24L	GPR89B_uc010ozs.1_Missense_Mutation_p.F24L|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'UTR	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	24	Helical; (Potential).				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(923;0.0276)					GGTGGCTTTTCTTCATGCGCC	0.294		NaN											0	0	0	0.005524	0	32	176				
HIST2H3D	653604	broad.mit.edu	37	1	149785205	149785205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:149785205G>A	uc010pbl.1	-	1	32	c.32C>T	c.(31-33)TCG>TTG	p.S11L	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	11					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GCCGCCGGTCGACTTGCGGGC	0.622		NaN											0	0	0	0.012319	0	13	28				
ANP32E	81611	broad.mit.edu	37	1	150193049	150193049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150193049G>A	uc001etw.2	-	7	1121	c.751C>T	c.(751-753)CGA>TGA	p.R251*	ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Nonsense_Mutation_p.R203*|ANP32E_uc010pbv.1_Nonsense_Mutation_p.R210*|ANP32E_uc001etv.3_Nonsense_Mutation_p.R250*	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	251	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCCCCTCGAAGACCTCCT	0.368		NaN											0	0	0	0.01441	0	316	154				
ADAMTSL4	54507	broad.mit.edu	37	1	150532646	150532646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150532646G>A	uc001eux.2	+	19	3435	c.3199G>A	c.(3199-3201)GAG>AAG	p.E1067K	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.E1090K|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.E1028K|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.E230K	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	1067					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACATGTCCTGGAGCGGTCTCC	0.627		NaN									OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	83	24				
MCL1	4170	broad.mit.edu	37	1	150550774	150550774	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150550774G>A	uc001euz.2	-	2	1012	c.882C>T	c.(880-882)ATC>ATT	p.I294I	MCL1_uc010pch.1_Silent_p.I184I|MCL1_uc001eva.2_Intron	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	294					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTCTGTGATACTTTCTG	0.453		NaN											0	0	0	0.00874	0	34	266				
PRUNE	58497	broad.mit.edu	37	1	150981133	150981133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150981133C>G	uc001ewh.1	+	1	161	c.25C>G	c.(25-27)CGA>GGA	p.R9G	PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_5'UTR|PRUNE_uc001ewj.1_5'UTR|FAM63A_uc001ewc.2_5'Flank|FAM63A_uc010pcm.1_5'Flank|FAM63A_uc001ewd.2_5'Flank|FAM63A_uc001ewe.2_5'Flank|FAM63A_uc001ewf.2_5'Flank|FAM63A_uc010pcn.1_5'Flank|FAM63A_uc001ewg.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	9						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGGGTTGTCGAGCTGCTCT	0.602		NaN											0	0	0	0.004878	0	35	203				
C1orf56	54964	broad.mit.edu	37	1	151021023	151021023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151021023C>T	uc001ewn.2	+	1	765	c.700C>T	c.(700-702)CGA>TGA	p.R234*		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	234						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGCGCCTTCGAGTTGGGGC	0.657		NaN									OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	206	86				
PI4KB	5298	broad.mit.edu	37	1	151288752	151288752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151288752G>A	uc001ext.2	-	2	621	c.206C>T	c.(205-207)TCT>TTT	p.S69F	PI4KB_uc001exr.2_Missense_Mutation_p.S81F|PI4KB_uc001exs.2_Missense_Mutation_p.S69F|PI4KB_uc001exu.2_Missense_Mutation_p.S69F|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S81F	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	69					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTGCTAGAGACTGCCAC	0.572		NaN											0	0	0	0.004007	0	15	137				
SELENBP1	8991	broad.mit.edu	37	1	151339220	151339220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151339220G>A	uc001exx.2	-	6	689	c.642C>T	c.(640-642)TTC>TTT	p.F214F	SELENBP1_uc010pcy.1_Silent_p.F256F|SELENBP1_uc001exy.2_Silent_p.F111F|SELENBP1_uc001exz.2_Silent_p.F111F|SELENBP1_uc010pcz.1_Silent_p.F152F|SELENBP1_uc009wms.2_Intron|SELENBP1_uc009wmt.2_Silent_p.F111F|SELENBP1_uc001eya.2_Silent_p.F150F|SELENBP1_uc009wmu.2_Silent_p.F111F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	214					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCGGGGTTGAAGCCATCTC	0.582		NaN											0	0	0	0.01441	0	51	225				
PSMB4	5692	broad.mit.edu	37	1	151372617	151372617	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151372617G>A	uc001eyc.1	+	2	324	c.301G>A	c.(301-303)GAC>AAC	p.D101N	PSMB4_uc010pda.1_Missense_Mutation_p.D101N|PSMB4_uc001eyb.1_Missense_Mutation_p.D101N	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCTGGCGACTACGCTGA	0.537		NaN											0	0	0	0.01441	0	56	402				
TUFT1	7286	broad.mit.edu	37	1	151542174	151542174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151542174G>C	uc001eyl.2	+	7	584	c.522G>C	c.(520-522)AAG>AAC	p.K174N	TUFT1_uc001eym.2_Missense_Mutation_p.K149N|TUFT1_uc010pdf.1_Missense_Mutation_p.K193N|TUFT1_uc010pdg.1_Missense_Mutation_p.K122N	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	174	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTGAGGAAGACGGTGCAGG	0.512		NaN											0	0	0	0.01441	0	62	405				
RORC	6097	broad.mit.edu	37	1	151785508	151785508	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151785508G>T	uc001ezh.2	-	9	1308	c.1200C>A	c.(1198-1200)ATC>ATA	p.I400I	RORC_uc001ezg.2_Silent_p.I379I|RORC_uc010pdo.1_Silent_p.I454I|RORC_uc010pdp.1_Silent_p.I388I	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	400	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAAGTCAAAGATGGAGCTGA	0.537		NaN											1	0	1.49723e-40	0.01441	1.59186e-40	72	26				
TCHH	7062	broad.mit.edu	37	1	152083964	152083964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152083964G>A	uc001ezp.2	-	2	1729	c.1729C>T	c.(1729-1731)CAG>TAG	p.Q577*	TCHH_uc009wne.1_Nonsense_Mutation_p.Q577*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	577	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAGCAGCTGATCGCGCCTC	0.672		NaN											0	0	0	0.003271	0	28	56				
FLG	2312	broad.mit.edu	37	1	152276091	152276091	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152276091G>A	uc001ezu.1	-	3	11307	c.11271C>T	c.(11269-11271)ACC>ACT	p.T3757T		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3757	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGAATGGTGTCCTGAC	0.607		NaN							Ichthyosis				0	0	0	0.01441	0	559	215				
S100A6	6277	broad.mit.edu	37	1	153507246	153507246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:153507246C>T	uc001fbw.1	-	3	513	c.199G>A	c.(199-201)GAG>AAG	p.E67K		NM_014624	NP_055439	P06703	S10A6_HUMAN	S100 calcium-binding protein A6	67	EF-hand 2.|2.				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGTTCACCTCCTGGTCCTTG	0.478		NaN											0	0	0	0.01441	0	112	95				
ZBTB7B	51043	broad.mit.edu	37	1	154988999	154988999	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:154988999C>T	uc001fgk.3	+	4	1616	c.1458C>T	c.(1456-1458)CTC>CTT	p.L486L	ZBTB7B_uc009wpa.2_Silent_p.L486L|ZBTB7B_uc001fgj.3_Silent_p.L520L|ZBTB7B_uc010peq.1_Silent_p.L520L|ZBTB7B_uc001fgl.3_Silent_p.L486L	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	486					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTCGACCTCTCCAATGGCC	0.682		NaN											0	0	0	0.010729	0	8	42				
MUC1	4582	broad.mit.edu	37	1	155161824	155161824	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155161824G>A	uc010pft.1	-	2	375	c.309C>T	c.(307-309)GTC>GTT	p.V103V	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V112V|MUC1_uc001fiw.1_Silent_p.V103V			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	103	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGCCTGGTGACTGGGACCG	0.697		NaN	T	IGH@	B-NHL								0	0	0	0.004482	0	9	50				
GON4L	54856	broad.mit.edu	37	1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155823271G>A	uc001flz.2	-	2	398	c.301C>T	c.(301-303)CAG>TAG	p.Q101*	GON4L_uc001fly.1_Nonsense_Mutation_p.Q101*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q101*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q101*|GON4L_uc009wri.2_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	101					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443		NaN											0	0	0	0.01441	0	49	362				
MEX3A	92312	broad.mit.edu	37	1	156051412	156051412	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156051412C>T	uc001fnd.3	-	1	378	c.378G>A	c.(376-378)CTG>CTA	p.L126L	LMNA_uc001fnf.1_5'Flank	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	126						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCTGCCCTTCAGGCGCAGCT	0.522		NaN											0	0	0	0.008871	0	19	0				
TMEM79	84283	broad.mit.edu	37	1	156256052	156256052	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156256052G>A	uc010phi.1	+	3	955	c.759G>A	c.(757-759)GGG>GGA	p.G253G	TMEM79_uc001fod.2_Silent_p.G94G|TMEM79_uc009wrw.2_Silent_p.G253G	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	253	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					TCCACCCAGGGATCCTGGTGT	0.612		NaN											0	0	0	0.003954	0	26	105				
C1orf85	112770	broad.mit.edu	37	1	156263941	156263941	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156263941C>T	uc001foh.2	-	4	679	c.666G>A	c.(664-666)CTG>CTA	p.L222L	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.L222L|C1orf85_uc009wrx.2_Silent_p.L155L|C1orf85_uc001foj.2_Silent_p.L136L	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	222	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					AGGCTCCAATCAGGGCCACCT	0.627		NaN											0	0	0	0.01441	0	101	41				
CCT3	7203	broad.mit.edu	37	1	156280783	156280783	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156280783C>T	uc001fol.1	-	12	1579	c.1359G>A	c.(1357-1359)CAG>CAA	p.Q453Q	CCT3_uc001fom.1_Silent_p.Q452Q|CCT3_uc001fon.1_Silent_p.Q415Q|CCT3_uc010phj.1_Silent_p.Q407Q|CCT3_uc010phk.1_Silent_p.Q407Q|CCT3_uc010phl.1_Silent_p.Q407Q	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	453					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCCACAGTTCTGGATCAGGG	0.537		NaN											0	0	0	0.010729	0	11	116				
RHBG	57127	broad.mit.edu	37	1	156354598	156354598	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156354598G>A	uc010pho.1	+	11	1376	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q	RHBG_uc001fos.2_3'UTR|RHBG_uc009wrz.2_3'UTR|RHBG_uc001for.2_3'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	Error:Variant_position_missing_in_Q9H310_after_alignment					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					ATAAAGCCCAGAGACCTCTGA	0.592		NaN									OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003755	0	34	8				
FCRL4	83417	broad.mit.edu	37	1	157550118	157550118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:157550118C>T	uc001fqw.2	-	8	1406	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	424	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACCTGGTTTCGTCTCCCAAG	0.413		NaN											0	0	0	0.01441	0	202	80				
CCDC19	25790	broad.mit.edu	37	1	159842861	159842861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:159842861C>T	uc001fui.2	-	11	1468	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E399K|CCDC19_uc001ful.2_Missense_Mutation_p.E399K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	484	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTGGTTCTCGCGCACCTGG	0.602		NaN											0	0	0	0.008361	0	28	94				
IGSF8	93185	broad.mit.edu	37	1	160063790	160063790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160063790G>T	uc001fva.2	-	3	659	c.614C>A	c.(613-615)TCT>TAT	p.S205Y	IGSF8_uc001fuz.2_Missense_Mutation_p.S205Y|IGSF8_uc009wtf.2_Missense_Mutation_p.S205Y	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	205	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGCACAGATCGCCCAAA	0.627		NaN											1	0	4.45467e-35	0.011902	4.72927e-35	42	63				
CASQ1	844	broad.mit.edu	37	1	160162631	160162631	+	Missense_Mutation	SNP	G	G	A	rs143532190		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160162631G>A	uc010pja.1	+	2	576	c.319G>A	c.(319-321)GGG>AGG	p.G107R		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	107						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGGCTTCGGGCTGGTAGA	0.512		NaN									OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	36	281				
CASQ1	844	broad.mit.edu	37	1	160163575	160163575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160163575G>C	uc010pja.1	+	3	660	c.403G>C	c.(403-405)GAT>CAT	p.D135H		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	135						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCAAGGGAGATGAAGTCAT	0.532		NaN											0	0	0	0.010504	0	17	82				
COPA	1314	broad.mit.edu	37	1	160261692	160261692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160261692C>T	uc009wti.2	-	30	3569	c.3175G>A	c.(3175-3177)GAG>AAG	p.E1059K	COPA_uc001fvv.3_Missense_Mutation_p.E1068K	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	1059					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAATGTACTCACGGCAAATG	0.522		NaN									OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	367	115				
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160681499G>A	uc001fwn.2	-	1	87	c.55C>T	c.(55-57)CTG>TTG	p.L19L	CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	19					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532		NaN											0	0	0	0.01441	0	52	14				
MPZ	4359	broad.mit.edu	37	1	161277071	161277071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161277071C>T	uc001gaf.3	-	2	278	c.241G>A	c.(241-243)GAA>AAA	p.E81K	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	71	Ig-like V-type.|Extracellular (Potential).				synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCCCCCTTCGGGCTGGTAG	0.552		NaN											0	0	0	0.001168	0	4	67				
FCGR2B	2213	broad.mit.edu	37	1	161641245	161641245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641245C>G	uc001gaz.1	+	3	289	c.197C>G	c.(196-198)TCT>TGT	p.S66C	FCGR2B_uc009wum.1_Missense_Mutation_p.S66C|FCGR2B_uc001gay.1_Missense_Mutation_p.S65C|FCGR2B_uc001gba.1_Missense_Mutation_p.S65C|FCGR2B_uc001gbb.1_Missense_Mutation_p.S66C|FCGR2B_uc009wun.1_Missense_Mutation_p.S59C	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	66	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAGGACTCTGTGACTCTG	0.587		NaN	T	NaN	ALL								0	0	0	0.006122	0	18	99				
FCGR2B	2213	broad.mit.edu	37	1	161641318	161641318	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641318C>G	uc001gaz.1	+	3	362	c.270C>G	c.(268-270)CTC>CTG	p.L90L	FCGR2B_uc009wum.1_Silent_p.L90L|FCGR2B_uc001gay.1_Silent_p.L89L|FCGR2B_uc001gba.1_Silent_p.L89L|FCGR2B_uc001gbb.1_Silent_p.L90L|FCGR2B_uc009wun.1_Silent_p.L83L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	90	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.587		NaN	T	NaN	ALL								0	0	0	0.00499	0	15	87				
FCGR2B	2213	broad.mit.edu	37	1	161641408	161641408	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641408C>T	uc001gaz.1	+	3	452	c.360C>T	c.(358-360)CTC>CTT	p.L120L	FCGR2B_uc009wum.1_Silent_p.L120L|FCGR2B_uc001gay.1_Silent_p.L119L|FCGR2B_uc001gba.1_Silent_p.L119L|FCGR2B_uc001gbb.1_Silent_p.L120L|FCGR2B_uc009wun.1_Silent_p.L113L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	120	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCAGCCTCAGCGACCCTG	0.592		NaN	T	NaN	ALL								0	0	0	0.013537	0	11	54				
FCRLB	127943	broad.mit.edu	37	1	161695648	161695648	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161695648C>T	uc001gbh.2	+	6	579	c.345C>T	c.(343-345)TTC>TTT	p.F115F	FCRLB_uc009wus.2_Silent_p.F115F|FCRLB_uc001gbj.2_Silent_p.F115F|FCRLB_uc001gbk.2_Silent_p.F115F|FCRLB_uc001gbl.2_Silent_p.F108F|FCRLB_uc001gbm.2_Silent_p.F108F|FCRLB_uc001gbi.2_Silent_p.F115F|FCRLB_uc001gbn.3_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	115	Ig-like C2-type 2.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCAGTGTTCGAGGGTGAGC	0.592		NaN											0	0	0	0.001984	0	4	52				
FCRLB	127943	broad.mit.edu	37	1	161696695	161696695	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161696695C>T	uc001gbh.2	+	7	1011	c.777C>T	c.(775-777)GTC>GTT	p.V259V	FCRLB_uc009wus.2_Silent_p.V259V|FCRLB_uc001gbj.2_Missense_Mutation_p.S211L|FCRLB_uc001gbk.2_Nonsense_Mutation_p.R225*|FCRLB_uc001gbl.2_Missense_Mutation_p.S204L|FCRLB_uc001gbm.2_Nonsense_Mutation_p.R218*|FCRLB_uc001gbi.2_Silent_p.V259V|FCRLB_uc001gbn.3_Nonsense_Mutation_p.R262*	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	259						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGCCCGAGGTCGAGGAGCTCG	0.687		NaN											0	0	0	0.004007	0	11	3				
BLZF1	8548	broad.mit.edu	37	1	169351514	169351514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169351514G>T	uc001gfx.1	+	6	1449	c.1012G>T	c.(1012-1014)GAA>TAA	p.E338*	BLZF1_uc001gfy.2_Nonsense_Mutation_p.E338*|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	338					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					GAAAATGGCTGAAACGGTAAA	0.279		NaN											1	0	4.3838e-07	0.001855	4.5106e-07	14	50				
SELE	6401	broad.mit.edu	37	1	169696928	169696928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169696928C>G	uc001ggm.3	-	9	1577	c.1420G>C	c.(1420-1422)GAG>CAG	p.E474Q	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	474	Extracellular (Potential).|Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					GATGTGCACTCAAGTTGAGTT	0.448		NaN											0	0	0	0.01441	0	82	65				
RC3H1	149041	broad.mit.edu	37	1	173916678	173916678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:173916678G>A	uc001gju.3	-	14	2653	c.2566C>T	c.(2566-2568)CAG>TAG	p.Q856*	RC3H1_uc010pms.1_Nonsense_Mutation_p.Q856*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.Q856*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.Q856*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	856					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GCTCTTCTCTGAAGATCTAAT	0.438		NaN											0	0	0	0.010771	0	42	34				
RFWD2	64326	broad.mit.edu	37	1	176012859	176012859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:176012859G>A	uc001gku.1	-	13	1773	c.1517C>T	c.(1516-1518)TCA>TTA	p.S506L	RFWD2_uc001gkv.1_Missense_Mutation_p.S482L|RFWD2_uc001gkw.1_Missense_Mutation_p.S266L|RFWD2_uc009wwv.2_Missense_Mutation_p.S305L|RFWD2_uc001gkt.1_Missense_Mutation_p.S345L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	506	WD 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						ATAGACCTTTGACCTCTGTCC	0.353		NaN											0	0	0	0.01441	0	75	246				
SOAT1	6646	broad.mit.edu	37	1	179320459	179320459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179320459C>G	uc001gml.2	+	15	1521	c.1458C>G	c.(1456-1458)TTC>TTG	p.F486L	SOAT1_uc010pni.1_Missense_Mutation_p.F421L|SOAT1_uc001gmm.2_Missense_Mutation_p.F428L|SOAT1_uc010pnj.1_Missense_Mutation_p.F222L|SOAT1_uc010pnk.1_Missense_Mutation_p.F421L	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	486	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	TAGTGGCTTTCAACTTCATTG	0.269		NaN											0	0	0	0.01441	0	57	169				
C1orf125	126859	broad.mit.edu	37	1	179339182	179339182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179339182G>A	uc001gmo.2	+	4	470	c.343G>A	c.(343-345)GAC>AAC	p.D115N	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D115N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	115											0						ATACCTGATTGACCATCCCGT	0.413		NaN											0	0	0	0.008291	0	9	31				
TDRD5	163589	broad.mit.edu	37	1	179609578	179609578	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179609578G>C	uc001gnf.1	+	11	2048	c.1798G>C	c.(1798-1800)GAG>CAG	p.E600Q	TDRD5_uc010pnp.1_Missense_Mutation_p.E600Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E155Q	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	600					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GAGACCAGTAGAGGTATGTTT	0.264		NaN											0	0	0	0.012319	0	19	89				
CEP350	9857	broad.mit.edu	37	1	180080149	180080149	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:180080149G>A	uc001gnt.2	+	38	9590	c.9207G>A	c.(9205-9207)GAG>GAA	p.E3069E	CEP350_uc009wxl.2_Silent_p.E3068E|CEP350_uc001gnv.2_Silent_p.E1204E|CEP350_uc001gnw.1_Silent_p.E826E|CEP350_uc001gnx.1_Silent_p.E826E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	3069						centrosome|nucleus|spindle				ovary(4)	4						AGCTCCATGAGGAGGAGGCAC	0.413		NaN											0	0	0	0.007413	0	17	59				
RGS16	6004	broad.mit.edu	37	1	182571103	182571103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182571103C>T	uc001gpl.3	-	4	539	c.385G>A	c.(385-387)GAG>AAG	p.E129K	RGS16_uc010pnv.1_Missense_Mutation_p.E129K	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	129	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						GCTCTAACCTCTTTAGGGGCC	0.567		NaN									OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005524	0	39	43				
DHX9	1660	broad.mit.edu	37	1	182845653	182845653	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182845653C>T	uc001gpr.2	+	18	2264	c.2101C>T	c.(2101-2103)CCA>TCA	p.P701S	DHX9_uc001gps.2_Missense_Mutation_p.P487S|DHX9_uc001gpt.2_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	701	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						AGTGTTTGATCCAGTACCAGT	0.403		NaN											0	0	0	0.00632	0	28	38				
C1orf26	54823	broad.mit.edu	37	1	185171807	185171807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185171807C>G	uc001grg.3	+	11	1659	c.1545C>G	c.(1543-1545)AAC>AAG	p.N515K	C1orf26_uc001grh.3_Missense_Mutation_p.N515K	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	515	PINc.										0						ACTTAAGAAACAAAGGCCTAA	0.368		NaN											0	0	0	0.005443	0	28	56				
IVNS1ABP	10625	broad.mit.edu	37	1	185276692	185276692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185276692C>T	uc001grl.2	-	6	1083	c.460G>A	c.(460-462)GAT>AAT	p.D154N	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	154	BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						ATATAAGCATCAACCTTATTC	0.368		NaN											0	0	0	0.010818	0	34	39				
HMCN1	83872	broad.mit.edu	37	1	185703957	185703957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185703957C>G	uc001grq.1	+	1	275	c.46C>G	c.(46-48)CTT>GTT	p.L16V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	16					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTTTGCTCTTCTTTATTCTTC	0.488		NaN											0	0	0	0.01441	0	106	108				
PLA2G4A	5321	broad.mit.edu	37	1	186946811	186946811	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:186946811G>T	uc001gsc.2	+	16	2056	c.1851G>T	c.(1849-1851)CTG>CTT	p.L617L	PLA2G4A_uc010pos.1_Silent_p.L557L	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	617	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGAAGGGCTGAAGGAGTGCT	0.423		NaN											1	0	1.77063e-15	0.005443	1.86247e-15	27	81				
KCNT2	343450	broad.mit.edu	37	1	196342316	196342316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:196342316C>T	uc001gtd.1	-	14	1417	c.1357G>A	c.(1357-1359)GCA>ACA	p.A453T	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.A453T|KCNT2_uc001gtf.1_Missense_Mutation_p.A453T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.A453T|KCNT2_uc009wyv.1_Missense_Mutation_p.A428T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	453	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GTAGATGTTGCTGGGCATATA	0.284		NaN											0	0	0	0.010818	0	31	103				
ZBTB41	360023	broad.mit.edu	37	1	197145778	197145778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:197145778C>T	uc001gtx.1	-	7	1864	c.1795G>A	c.(1795-1797)GAT>AAT	p.D599N	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTTTTATCATCATGATGTACT	0.303		NaN											0	0	0	0.01441	0	59	71				
NEK7	140609	broad.mit.edu	37	1	198288556	198288556	+	Silent	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:198288556T>G	uc001gun.3	+	10	1140	c.813T>G	c.(811-813)GTT>GTG	p.V271V		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	271	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						GACAGTTAGTTAATATGTGCA	0.383		NaN											0	0	0	0.008291	0	11	35				
ZNF281	23528	broad.mit.edu	37	1	200377338	200377338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200377338G>A	uc001gve.2	-	2	1603	c.1496C>T	c.(1495-1497)CCA>CTA	p.P499L	ZNF281_uc001gvf.1_Missense_Mutation_p.P499L|ZNF281_uc001gvg.1_Missense_Mutation_p.P463L	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	499					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TGAGCCACTTGGTTTTCCAGA	0.368		NaN											0	0	0	0.004878	0	37	124				
C1orf106	55765	broad.mit.edu	37	1	200878016	200878016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200878016G>A	uc001gvo.2	+	7	1018	c.988G>A	c.(988-990)GAC>AAC	p.D330N	C1orf106_uc010ppm.1_Missense_Mutation_p.D245N	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	330	Pro-rich.									skin(2)|ovary(1)	3						AACCAGCCTGGACCACCCCTA	0.642		NaN											0	0	0	0.010729	0	9	44				
C1orf106	55765	broad.mit.edu	37	1	200880945	200880945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200880945G>A	uc001gvo.2	+	9	1609	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K	C1orf106_uc010ppm.1_Missense_Mutation_p.E442K	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	527										skin(2)|ovary(1)	3						GGTGGTGGCTGAGAGCCCCCT	0.731		NaN											0	0	0	0.001984	0	4	12				
PPP1R12B	4660	broad.mit.edu	37	1	202318026	202318026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:202318026G>A	uc001gya.1	+	1	191	c.47G>A	c.(46-48)CGA>CAA	p.R16Q	PPP1R12B_uc001gxy.2_Missense_Mutation_p.R16Q|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.R16Q|PPP1R12B_uc001gxz.1_Missense_Mutation_p.R16Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	16					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTCGGCGCGAATGCGGCGG	0.682		NaN											0	0	0	0.004672	0	3	6				
BTG2	7832	broad.mit.edu	37	1	203276346	203276346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:203276346G>A	uc001gzq.2	+	2	328	c.257G>A	c.(256-258)GGA>GAA	p.G86E	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	86					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGCCAGATCGGACTCAGCCAG	0.632		NaN											0	0	0	0.013537	0	11	38		Valid		
REN	5972	broad.mit.edu	37	1	204125005	204125005	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:204125005G>A	uc001haq.2	-	9	1046	c.1002C>T	c.(1000-1002)ATC>ATT	p.I334I		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	334					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGTGGAAAGAGATGTCGGGGA	0.567		NaN											0	0	0	0.00308	0	8	9				
CDK18	5129	broad.mit.edu	37	1	205498223	205498223	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205498223C>T	uc001hcr.2	+	11	1380	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L	CDK18_uc001hcp.2_Silent_p.L357L|CDK18_uc001hcq.2_Silent_p.L357L|CDK18_uc010prj.1_Silent_p.L268L|CDK18_uc001hcs.2_Silent_p.L268L|CDK18_uc009xbm.1_Silent_p.L282L|CDK18_uc001hct.2_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						TTCGCCTCCTCGGTCAGTCTC	0.706		NaN									OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	1				
SLC41A1	254428	broad.mit.edu	37	1	205767810	205767810	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205767810G>A	uc001hdh.1	-	6	1703	c.831C>T	c.(829-831)CTC>CTT	p.L277L	SLC41A1_uc001hdg.1_5'Flank|uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	277	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTTCCAGGTAGAGTCCCCAGC	0.557		NaN											0	0	0	0.007413	0	19	87				
MAPKAPK2	9261	broad.mit.edu	37	1	206904547	206904547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:206904547C>T	uc001hem.1	+	7	1118	c.832C>T	c.(832-834)CGC>TGC	p.R278C	MAPKAPK2_uc001hel.1_Missense_Mutation_p.R278C	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	278	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CATGAAGACTCGCATCCGAAT	0.537		NaN											0	0	0	0.010504	0	20	63				
C4BPA	722	broad.mit.edu	37	1	207317297	207317297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:207317297G>A	uc001hfo.2	+	11	1773	c.1579G>A	c.(1579-1581)GGG>AGG	p.G527R		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	527	Sushi 8.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CACTTGCTCTGGGAACAGAAC	0.493		NaN											0	0	0	0.010818	0	32	51				
NEK2	4751	broad.mit.edu	37	1	211842601	211842601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:211842601C>T	uc001hir.1	-	6	985	c.839G>A	c.(838-840)AGA>AAA	p.R280K	NEK2_uc001hiq.1_Missense_Mutation_p.R280K|NEK2_uc001his.3_Missense_Mutation_p.R280K|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	280	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGATTTCTTCTTTGCTCGTC	0.408		NaN											0	0	0	0.00874	0	41	132				
INTS7	25896	broad.mit.edu	37	1	212118233	212118233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:212118233C>T	uc001hiw.1	-	19	2599	c.2494G>A	c.(2494-2496)GAG>AAG	p.E832K	INTS7_uc009xdb.1_Missense_Mutation_p.E812K|INTS7_uc001hix.1_Missense_Mutation_p.E708K|INTS7_uc001hiy.1_Missense_Mutation_p.E818K|INTS7_uc010pta.1_Missense_Mutation_p.E783K	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	832					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACCACTCCCTCTACCTTTAGC	0.498		NaN											0	0	0	0.003954	0	26	80				
USH2A	7399	broad.mit.edu	37	1	216019244	216019244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:216019244A>G	uc001hku.1	-	45	9364	c.8977T>C	c.(8977-8979)TAT>CAT	p.Y2993H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2993	Fibronectin type-III 16.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGATCCAATACTCTGTGTTT	0.433		NaN								HNSCC(13;0.011)			0	0	0	0.003163	0	14	54				
EPRS	2058	broad.mit.edu	37	1	220146632	220146632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:220146632C>G	uc001hly.1	-	29	4462	c.4192G>C	c.(4192-4194)GAG>CAG	p.E1398Q		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1398	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGTTTAGTCTCTGCCTCATTT	0.433		NaN											0	0	0	0.00874	0	42	60				
HLX	3142	broad.mit.edu	37	1	221057702	221057702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221057702G>A	uc001hmv.3	+	4	1580	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	375	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		AGGCGAGGCTGAGAGCGAGAG	0.632		NaN											0	0	0	0.004007	0	11	13				
DUSP10	11221	broad.mit.edu	37	1	221875931	221875931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221875931C>T	uc001hmy.1	-	4	1454	c.1272G>A	c.(1270-1272)ATG>ATA	p.M424I	DUSP10_uc001hmx.1_Missense_Mutation_p.M82I|DUSP10_uc001hmz.1_Missense_Mutation_p.M82I	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	424	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GAGTGTGCTTCATCAAGTAAG	0.507		NaN											0	0	0	0.01441	0	92	59				
NVL	4931	broad.mit.edu	37	1	224492452	224492452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:224492452C>T	uc001hok.2	-	8	854	c.811G>A	c.(811-813)GAT>AAT	p.D271N	NVL_uc001hol.2_Missense_Mutation_p.D165N|NVL_uc010pvd.1_Missense_Mutation_p.D180N|NVL_uc010pve.1_Missense_Mutation_p.D55N|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	271						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		AATGTCATATCATTGCCTCCC	0.343		NaN											0	0	0	0.01441	0	45	216				
OBSCN	84033	broad.mit.edu	37	1	228505341	228505341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228505341G>A	uc009xez.1	+	52	13782	c.13738G>A	c.(13738-13740)GAG>AAG	p.E4580K	OBSCN_uc001hsn.2_Missense_Mutation_p.E4580K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4580	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCTGGACCCGAGTGTGTGGT	0.687		NaN											0	0	0	0.008291	0	10	17				
TRIM11	81559	broad.mit.edu	37	1	228582712	228582712	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228582712C>T	uc001hss.2	-	6	1356	c.1101G>A	c.(1099-1101)GAG>GAA	p.E367E	TRIM11_uc010pvx.1_Silent_p.E366E	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	367	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				GCTCGCCCTTCTCCTTCCTGT	0.647		NaN											0	0	0	0.003954	0	22	19				
PGBD5	79605	broad.mit.edu	37	1	230486730	230486730	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230486730A>G	uc010pwb.1	-	3	661	c.661T>C	c.(661-663)TGT>CGT	p.C221R	PGBD5_uc001htv.2_Missense_Mutation_p.C320R	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	221						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTGGAAGAACATTGTCTGACC	0.567		NaN											0	0	0	0.003954	0	24	58				
AGT	183	broad.mit.edu	37	1	230845940	230845940	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230845940C>T	uc001hty.3	-	2	1165	c.657G>A	c.(655-657)CTG>CTA	p.L219L	AGT_uc009xfe.2_Silent_p.L219L|AGT_uc009xff.2_Silent_p.L191L	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	219					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACGGCTGCTTCAGGTGCAGGC	0.617		NaN											0	0	0	0.004007	0	16	23				
GNG4	2786	broad.mit.edu	37	1	235747067	235747067	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747067C>G	uc001hxe.3	-	3	526	c.72G>C	c.(70-72)AAG>AAC	p.K24N	GNG4_uc009xfz.2_Missense_Mutation_p.K24N|GNG4_uc001hxh.3_Missense_Mutation_p.K24N	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	24					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			AGGCTTCCATCTTTAGCTGCT	0.512		NaN											0	0	0	0.01441	0	79	69				
GNG4	2786	broad.mit.edu	37	1	235747078	235747078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747078C>T	uc001hxe.3	-	3	515	c.61G>A	c.(61-63)GAG>AAG	p.E21K	GNG4_uc009xfz.2_Missense_Mutation_p.E21K|GNG4_uc001hxh.3_Missense_Mutation_p.E21K	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	21					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TTTAGCTGCTCCACAGCTTTC	0.507		NaN											0	0	0	0.01441	0	89	76				
NID1	4811	broad.mit.edu	37	1	236228224	236228224	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236228224G>A	uc001hxo.2	-	1	258	c.156C>T	c.(154-156)TTC>TTT	p.F52F	NID1_uc009xgd.2_Silent_p.F52F|uc001hxp.1_Missense_Mutation_p.R122Q	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	52					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGAGAGACGAAGTCATCCC	0.697		NaN											0	0	0	0.010729	0	11	6				
HEATR1	55127	broad.mit.edu	37	1	236738083	236738083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236738083C>G	uc001hyd.1	-	23	3330	c.3205G>C	c.(3205-3207)GAA>CAA	p.E1069Q	HEATR1_uc009xgh.1_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1069					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGAAAATTCATTATACTTT	0.428		NaN											0	0	0	0.00874	0	42	39				
SDCCAG8	10806	broad.mit.edu	37	1	243480080	243480080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:243480080C>T	uc001hzw.2	+	9	1109	c.953C>T	c.(952-954)GCA>GTA	p.A318V	SDCCAG8_uc010pyk.1_Missense_Mutation_p.A173V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.A130V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.A130V	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	318	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGATGTCTGCACTAGTTTCC	0.413		NaN											0	0	0	0.00632	0	28	50				
ZNF238	10472	broad.mit.edu	37	1	244218572	244218572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:244218572G>C	uc001iae.2	+	1	1991	c.1469G>C	c.(1468-1470)TGT>TCT	p.C490S	ZNF238_uc001iad.3_Missense_Mutation_p.C499S|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	490					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			AAGTTCCACTGTGAGTTGGTG	0.547		NaN											0	0	0	0.014323	0	21	71				
KIF26B	55083	broad.mit.edu	37	1	245851077	245851077	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:245851077C>G	uc001ibf.1	+	12	5232	c.4792C>G	c.(4792-4794)CTG>GTG	p.L1598V	KIF26B_uc001ibg.1_Missense_Mutation_p.L1216V|KIF26B_uc001ibh.1_Missense_Mutation_p.L840V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1598					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTCCCCCTCTGCCCCCTGT	0.687		NaN											0	0	0	0.004672	0	3	1				
TFB2M	64216	broad.mit.edu	37	1	246729307	246729307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:246729307G>A	uc001ibn.2	-	1	259	c.134C>T	c.(133-135)TCT>TTT	p.S45F	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	45					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGAGGAGTCAGAGAGCCCACA	0.592		NaN											0	0	0	0.003163	0	14	60				
TRIM58	25893	broad.mit.edu	37	1	248039263	248039263	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248039263C>T	uc001ido.2	+	6	981	c.933C>T	c.(931-933)CGC>CGT	p.R311R	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	311	B30.2/SPRY.					intracellular	zinc ion binding	p.R311C(1)		skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGACCTGCGCAGTGTGCAGG	0.572		NaN											0	0	0	0.00499	0	16	30				
OR2T3	343173	broad.mit.edu	37	1	248637237	248637237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248637237G>A	uc001iel.1	+	1	586	c.586G>A	c.(586-588)GAC>AAC	p.D196N		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGCTCTGACGTCTCCCT	0.522		NaN											0	0	0	0.01441	0	76	93				
AKR1E2	83592	broad.mit.edu	37	10	4875593	4875593	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:4875593A>G	uc001ihi.2	+	3	374	c.259A>G	c.(259-261)AGT>GGT	p.S87G	AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Missense_Mutation_p.S87G|AKR1E2_uc009xhw.2_Missense_Mutation_p.S87G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.S87G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	87						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						ATGCAGAAAGAGTCTCAAGGC	0.527		NaN											0	0	0	0.006214	0	9	425				
AKR1C1	1645	broad.mit.edu	37	10	5009208	5009208	+	Silent	SNP	C	C	T	rs138894545	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:5009208C>T	uc001iho.2	+	8	1183	c.342C>T	c.(340-342)TAC>TAT	p.Y114Y	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc009xhx.2_Silent_p.Y114Y|AKR1C1_uc001ihq.2_Silent_p.Y114Y	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	114					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TTGACCTCTACCTTATTCATT	0.383		NaN											0	0	0	0.012319	0	5	191				
FRMD4A	55691	broad.mit.edu	37	10	13708121	13708121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:13708121G>A	uc001ims.2	-	18	1931	c.1579C>T	c.(1579-1581)CAG>TAG	p.Q527*	FRMD4A_uc009xjf.1_Nonsense_Mutation_p.Q527*|FRMD4A_uc001imt.1_Nonsense_Mutation_p.Q560*	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	527						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GAAGCCCTCTGGGTGGGTTTC	0.567		NaN											0	0	0	0.01441	0	116	109				
PTPLA	9200	broad.mit.edu	37	10	17641359	17641359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:17641359C>T	uc001ipg.2	-	5	570	c.535G>A	c.(535-537)GAG>AAG	p.E179K		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	179	Helical; (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						CGAGTGATCTCTGTCACAGTC	0.443		NaN											0	0	0	0.007413	0	17	31				
PLXDC2	84898	broad.mit.edu	37	10	20436813	20436813	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:20436813C>T	uc001iqg.1	+	6	1402	c.765C>T	c.(763-765)ATC>ATT	p.I255I	PLXDC2_uc001iqh.1_Silent_p.I206I|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	255	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						ATGGACGAATCATCTTTGGAT	0.453		NaN											0	0	0	0.014323	0	21	48				
C10orf114	399726	broad.mit.edu	37	10	21785724	21785724	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21785724G>A	uc001iqn.3	-	1	490	c.20C>T	c.(19-21)TCA>TTA	p.S7L	MIR1915_hsa-mir-1915|MI0008336_5'Flank	NM_001010911	NP_001010911	Q5T4H9	CJ114_HUMAN	hypothetical protein LOC399726	7											0						GCGCCACCCTGAGGGCTCCCG	0.647		NaN											0	0	0	0.000602	0	3	9				
C10orf140	387640	broad.mit.edu	37	10	21804624	21804624	+	Missense_Mutation	SNP	C	C	T	rs35145063		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21804624C>T	uc009xkd.2	-	4	4381	c.2128G>A	c.(2128-2130)GAG>AAG	p.E710K	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	629						nucleus	nucleotide binding			ovary(1)	1						TCATTGCACTCGCACTTTAGC	0.393		NaN											0	0	0	0.01441	0	162	174				
KIAA1217	56243	broad.mit.edu	37	10	24832553	24832553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:24832553G>A	uc001iru.3	+	19	4757	c.4354G>A	c.(4354-4356)GAC>AAC	p.D1452N	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1135N|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D288N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1452					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TGAGCCCATGGACATCCGGTC	0.393		NaN											0	0	0	0.013114	0	44	46				
ACBD5	91452	broad.mit.edu	37	10	27524079	27524079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:27524079C>T	uc010qdp.1	-	3	435	c.244G>A	c.(244-246)GAA>AAA	p.E82K	ACBD5_uc010qdm.1_Missense_Mutation_p.E80K|ACBD5_uc010qdn.1_Intron|ACBD5_uc010qdo.1_Intron|ACBD5_uc001ito.2_Missense_Mutation_p.E47K|ACBD5_uc001itp.2_Intron|ACBD5_uc001itq.2_Intron|ACBD5_uc001itr.1_Intron	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	80	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CAGGGTCCTTCAGTTGCCTGC	0.343		NaN											0	0	0	0.012319	0	23	58				
SVIL	6840	broad.mit.edu	37	10	29811369	29811369	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:29811369G>A	uc001iut.1	-	16	4112	c.3359C>T	c.(3358-3360)TCA>TTA	p.S1120L	SVIL_uc010qdw.1_Missense_Mutation_p.S18L|SVIL_uc001iuu.1_Missense_Mutation_p.S694L	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1120					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTTGCTGGGTGAGTCAAGAAG	0.468		NaN											0	0	0	0.013726	0	32	30				
GJD4	219770	broad.mit.edu	37	10	35894525	35894525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:35894525C>T	uc001iyy.1	+	1	188	c.30C>T	c.(28-30)CTC>CTT	p.L10L		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	10	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TAGGGTTTCTCATCATCACAT	0.517		NaN											0	0	0	0.001855	0	12	34				
ANKRD30A	91074	broad.mit.edu	37	10	37508401	37508401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:37508401C>T	uc001iza.1	+	34	3692	c.3593C>T	c.(3592-3594)TCT>TTT	p.S1198F		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CAACCACTTTCTGAAGCTCAA	0.373		NaN											0	0	0	0.01441	0	55	43				
BMS1	9790	broad.mit.edu	37	10	43292488	43292488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43292488C>T	uc001jaj.2	+	10	2154	c.1796C>T	c.(1795-1797)TCA>TTA	p.S599L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	599					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GAAAGCTCCTCACTCAGTGCA	0.458		NaN											0	0	0	0.01441	0	86	80				
RET	5979	broad.mit.edu	37	10	43612094	43612094	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43612094C>T	uc001jal.2	+	12	2389	c.2199C>T	c.(2197-2199)GGC>GGT	p.G733G	RET_uc001jak.1_Silent_p.G733G|RET_uc010qez.1_Silent_p.G479G	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	733	Protein kinase.|ATP (By similarity).|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TAGGAGAAGGCGAATTTGGAA	0.527		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	0.01441	0	41	256				
CSGALNACT2	55454	broad.mit.edu	37	10	43651198	43651198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43651198G>A	uc001jan.2	+	2	936	c.601G>A	c.(601-603)GAA>AAA	p.E201K	CSGALNACT2_uc001jam.1_Missense_Mutation_p.E201K	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	201	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGATGAACAAGAAGATGAGGA	0.363		NaN											0	0	0	0.005524	0	37	90				
TMEM72	643236	broad.mit.edu	37	10	45430175	45430175	+	Missense_Mutation	SNP	G	G	A	rs140679942	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:45430175G>A	uc001jbn.2	+	5	618	c.421G>A	c.(421-423)GAG>AAG	p.E141K	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E23K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	141						integral to membrane					0						AGCTGCCCCCGAGGTGCTGGC	0.602		NaN											0	0	0	0.005524	0	33	194				
SYT15	83849	broad.mit.edu	37	10	46963894	46963894	+	Missense_Mutation	SNP	C	C	T	rs2484844		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:46963894C>T	uc001jea.2	-	7	1222	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	SYT15_uc001jdz.2_Missense_Mutation_p.E357K|SYT15_uc001jeb.2_Missense_Mutation_p.E235K|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	357	Cytoplasmic (Potential).|C2 2.					integral to membrane|plasma membrane					0						GTATCCAGCTCGGTGGCATCG	0.567		NaN											0	0	0	0.000602	0	5	96				
GDF2	2658	broad.mit.edu	37	10	48416478	48416478	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416478C>G	uc001jfa.1	-	1	379	c.216G>C	c.(214-216)CTG>CTC	p.L72L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	72					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GGACCCCACTCAGGTTAAGGC	0.577		NaN											0	0	0	0.008871	0	18	65				
GDF2	2658	broad.mit.edu	37	10	48416501	48416501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416501C>G	uc001jfa.1	-	1	356	c.193G>C	c.(193-195)GAT>CAT	p.D65H		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	65					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						CGCAGGAAATCCACCTTCACG	0.587		NaN											0	0	0	0.006122	0	18	67				
DKK1	22943	broad.mit.edu	37	10	54076536	54076536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:54076536C>T	uc001jjr.2	+	4	924	c.770C>T	c.(769-771)TCT>TTT	p.S257F	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	257	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						GCCAGTAATTCTTCTAGGCTT	0.403		NaN											0	0	0	0.01441	0	59	39				
ARID5B	84159	broad.mit.edu	37	10	63700148	63700148	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:63700148C>T	uc001jlt.1	+	3	509	c.483C>T	c.(481-483)CTC>CTT	p.L161L	ARID5B_uc010qil.1_Silent_p.L161L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	161					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACGTTCTCAAGGAGAAGG	0.418		NaN											0	0	0	0.007413	0	18	15				
JMJD1C	221037	broad.mit.edu	37	10	64967741	64967741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64967741G>T	uc001jmn.2	-	10	3988	c.3688C>A	c.(3688-3690)CCA>ACA	p.P1230T	JMJD1C_uc001jml.2_Missense_Mutation_p.P1011T|JMJD1C_uc001jmm.2_Missense_Mutation_p.P942T|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1048T|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1048T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.P267T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1230					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTAAAGTTGGAGGGGAAAGA	0.468		NaN											1	0	4.87955e-14	0.005443	5.11775e-14	27	102				
JMJD1C	221037	broad.mit.edu	37	10	64974489	64974489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64974489G>A	uc001jmn.2	-	8	1738	c.1438C>T	c.(1438-1440)CCT>TCT	p.P480S	JMJD1C_uc001jml.2_Missense_Mutation_p.P261S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P192S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P298S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P298S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.P192S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	480					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATTCCTGAGGAAGTAAATCA	0.373		NaN											0	0	0	0.01441	0	61	190				
NEUROG3	50674	broad.mit.edu	37	10	71332454	71332454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71332454C>T	uc001jpp.2	-	2	504	c.346G>A	c.(346-348)GAC>AAC	p.D116N		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	116	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity				0						AGCTTCGCGTCGTCTGGGAAG	0.622		NaN											0	0	0	0.001984	0	7	21				
TYSND1	219743	broad.mit.edu	37	10	71902546	71902546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71902546G>A	uc001jqr.2	-	3	1515	c.1361C>T	c.(1360-1362)TCA>TTA	p.S454L	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	454	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						AAGGATGCCTGAGGTCACCGA	0.642		NaN											0	0	0	0.001168	0	6	20				
SLC29A3	55315	broad.mit.edu	37	10	73082533	73082533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:73082533G>A	uc001jrr.3	+	2	79	c.22G>A	c.(22-24)GAC>AAC	p.D8N	SLC29A3_uc001jrs.3_Missense_Mutation_p.D8N|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	8	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CTCAGAGGACGACTTTCAGCA	0.597		NaN											0	0	0	0.00278	0	22	85				
NDST2	8509	broad.mit.edu	37	10	75567514	75567514	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75567514G>C	uc001jvk.2	-	3	1437	c.633C>G	c.(631-633)CTC>CTG	p.L211L	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L88L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L88L	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	211	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					TGGGGCGTGTGAGATGCAGTA	0.552		NaN											0	0	0	0.004482	0	9	42				
ADK	132	broad.mit.edu	37	10	75960592	75960592	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75960592G>A	uc001jwi.2	+	2	208	c.136G>A	c.(136-138)GAT>AAT	p.D46N	ADK_uc010qlb.1_Missense_Mutation_p.D46N|ADK_uc001jwj.2_Missense_Mutation_p.D29N|ADK_uc010qlc.1_Missense_Mutation_p.D29N	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	46					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATTTCCTTGATAAGTAAGT	0.328		NaN											0	0	0	0.001855	0	13	42				
WAPAL	23063	broad.mit.edu	37	10	88260375	88260375	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88260375C>T	uc001kdo.2	-	3	1067	c.625G>A	c.(625-627)GAT>AAT	p.D209N	WAPAL_uc001kdn.2_Missense_Mutation_p.D252N|WAPAL_uc009xsw.2_Missense_Mutation_p.D209N	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	209	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TTCCAAGTATCATTTGTTTCC	0.378		NaN											0	0	0	0.007835	0	41	138				
LDB3	11155	broad.mit.edu	37	10	88439133	88439133	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88439133G>A	uc001kdv.2	+	2	126	c.103G>A	c.(103-105)GGC>AGC	p.G35S	LDB3_uc010qml.1_Missense_Mutation_p.G35S|LDB3_uc010qmm.1_Missense_Mutation_p.G35S|LDB3_uc001kdu.2_Missense_Mutation_p.G35S|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.G35S|LDB3_uc009xsy.2_Missense_Mutation_p.G35S|LDB3_uc001kds.2_Missense_Mutation_p.G35S|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	35	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						GATCACACCAGGCAGCAAGGC	0.587		NaN											0	0	0	0.005443	0	26	27				
MMRN2	79812	broad.mit.edu	37	10	88696506	88696506	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88696506C>T	uc001kea.2	-	7	2971	c.2844G>A	c.(2842-2844)AAG>AAA	p.K948K	MMRN2_uc010qmn.1_Silent_p.K591K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	948	C1q.					extracellular space				large_intestine(1)	1						GGGTTCAGGTCTTAAACATCA	0.552		NaN											0	0	0	0.01441	0	87	65				
HTR7	3363	broad.mit.edu	37	10	92617043	92617043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:92617043G>C	uc001kha.2	-	1	629	c.386C>G	c.(385-387)TCG>TGG	p.S129W	HTR7_uc001kgz.2_Missense_Mutation_p.S129W|HTR7_uc001khb.2_Missense_Mutation_p.S129W	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	129	Helical; Name=2; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CACAGCCACCGAGAGGTCGGC	0.597		NaN											0	0	0	0.008291	0	10	48				
PDE6C	5146	broad.mit.edu	37	10	95400233	95400233	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:95400233G>C	uc001kiu.3	+	13	1794	c.1656G>C	c.(1654-1656)GTG>GTC	p.V552V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	552					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TGTACACTGTGAGGAAAGGGT	0.448		NaN											0	0	0	0.00874	0	40	113				
CYP2C9	1559	broad.mit.edu	37	10	96698472	96698472	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:96698472C>G	uc001kka.3	+	1	58	c.33C>G	c.(31-33)CTC>CTG	p.L11L	CYP2C9_uc009xut.2_Silent_p.L11L|CYP2C9_uc001kjz.2_Silent_p.L11L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	11					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGCTCTGTCTCTCATGTTTGC	0.478		NaN											0	0	0	0.01441	0	171	160				
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs149509898	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97607265C>T	uc001klh.3	+	7	1200	c.876C>T	c.(874-876)AAC>AAT	p.N292N	ENTPD1_uc001kli.3_Silent_p.N299N|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.N304N|ENTPD1_uc010qok.1_Silent_p.N184N|ENTPD1_uc010qol.1_Silent_p.N184N|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Silent_p.N154N|ENTPD1_uc009xva.2_Silent_p.N154N|ENTPD1_uc009xuz.2_Intron	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418		NaN											0	0	0	0.003271	0	35	100				
BLNK	29760	broad.mit.edu	37	10	97964290	97964290	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97964290C>T	uc001kls.3	-	12	1078	c.900G>A	c.(898-900)CAG>CAA	p.Q300Q	BLNK_uc001kme.3_Silent_p.Q195Q|BLNK_uc001klt.3_Silent_p.Q191Q|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Silent_p.Q218Q|BLNK_uc001klv.3_Silent_p.Q195Q|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.Q277Q|BLNK_uc001kly.3_Silent_p.Q300Q|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.Q277Q|BLNK_uc001kmb.3_Silent_p.Q96Q|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.Q218Q|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	300					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTCTTACTTCTGGGCAGGAG	0.448		NaN											0	0	0	0.01441	0	46	69				
TLL2	7093	broad.mit.edu	37	10	98144396	98144396	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98144396G>A	uc001kml.1	-	16	2368	c.2142C>T	c.(2140-2142)TTC>TTT	p.F714F		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	714	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTCGGACTTGAACTCCACGC	0.637		NaN											0	0	0	0.009535	0	29	83				
TM9SF3	56889	broad.mit.edu	37	10	98336574	98336574	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98336574C>G	uc001kmm.3	-	2	332	c.115G>C	c.(115-117)GAG>CAG	p.E39Q	TM9SF3_uc010qot.1_Missense_Mutation_p.E39Q	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	39						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAACTTCCTCTTTATCTTGA	0.313		NaN											0	0	0	0.00333	0	24	62				
LOXL4	84171	broad.mit.edu	37	10	100022549	100022549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:100022549G>A	uc001kpa.1	-	2	379	c.228C>T	c.(226-228)TTC>TTT	p.F76F		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	76	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGGCAGCTTCGAAGCCCAGCT	0.622		NaN									OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	31	27				
CUTC	51076	broad.mit.edu	37	10	101514304	101514304	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101514304G>T	uc001kqd.3	+	8	768	c.620G>T	c.(619-621)AGA>ATA	p.R207I	CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	207					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATAACAGACAGAAATCTACAA	0.363		NaN											1	0	2.80266e-47	0.01441	2.98126e-47	81	221				
ABCC2	1244	broad.mit.edu	37	10	101594192	101594192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101594192G>A	uc001kqf.2	+	24	3453	c.3314G>A	c.(3313-3315)TGC>TAC	p.C1105Y		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1105	ABC transmembrane type-1 2.|Helical; Name=14; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGATTACATGCTTCCTGGGG	0.473		NaN											0	0	0	0.01441	0	87	96				
CHUK	1147	broad.mit.edu	37	10	101959727	101959727	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101959727C>T	uc001kqp.2	-	16	1784	c.1729_splice	c.e16+1	p.D577_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AAGTGTCTTACCTGAAGGTCT	0.348		NaN											0	0	0	0.014323	0	24	96				
MRPL43	84545	broad.mit.edu	37	10	102746534	102746534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:102746534C>T	uc001kry.1	-	3	509	c.437G>A	c.(436-438)CGA>CAA	p.R146Q	MRPL43_uc010qpu.1_Missense_Mutation_p.R146Q|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksb.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksd.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksc.2_Missense_Mutation_p.R146Q|MRPL43_uc001kse.2_Missense_Mutation_p.R184Q|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksh.2_5'Flank	NM_176792	NP_789762	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform b	146					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CTGAACCTCTCGGGGGCGTAG	0.627		NaN											0	0	0	0.001855	0	12	39				
KCNIP2	30819	broad.mit.edu	37	10	103588903	103588903	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:103588903G>A	uc001kub.2	-	4	629	c.277C>T	c.(277-279)CTG>TTG	p.L93L	KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Silent_p.V14V|KCNIP2_uc001ktz.2_Silent_p.L48L|KCNIP2_uc009xwu.2_Silent_p.L43L|KCNIP2_uc009xwv.2_Silent_p.L43L|KCNIP2_uc001kuc.2_Silent_p.L108L|KCNIP2_uc001kue.2_Silent_p.L75L|KCNIP2_uc001kud.2_Silent_p.L43L|KCNIP2_uc001kuf.2_Silent_p.L43L|KCNIP2_uc001kua.2_Silent_p.V14V|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Silent_p.L48L|KCNIP2_uc010qqi.1_Silent_p.L43L	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	93	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		AGCTGCTCCAGACCCTCAGGC	0.617		NaN											0	0	0	0.001168	0	5	22				
CNNM2	54805	broad.mit.edu	37	10	104679815	104679815	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:104679815C>T	uc001kwm.2	+	1	1702	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F	CNNM2_uc001kwn.2_Silent_p.F526F|CNNM2_uc001kwl.2_Silent_p.F526F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	526	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTTTGTTTTCAATGACACCA	0.453		NaN											0	0	0	0.01441	0	51	122				
ADD3	120	broad.mit.edu	37	10	111881975	111881975	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:111881975G>A	uc001kyt.3	+	10	1382	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	ADD3_uc001kys.3_Silent_p.V356V|ADD3_uc001kyu.2_Silent_p.V356V|ADD3_uc001kyv.2_Silent_p.V356V|ADD3_uc001kyw.2_Silent_p.V356V|ADD3_uc001kyx.2_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	356						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAGGAGGTGTGAATATGGGTT	0.448		NaN											0	0	0	0.012213	0	30	70				
ACSL5	51703	broad.mit.edu	37	10	114186017	114186017	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:114186017C>T	uc001kzs.2	+	19	1880	c.1739C>T	c.(1738-1740)TCA>TTA	p.S580L	ACSL5_uc001kzt.2_Missense_Mutation_p.S580L|ACSL5_uc001kzu.2_Missense_Mutation_p.S636L|ACSL5_uc009xxz.2_Missense_Mutation_p.S580L|ACSL5_uc010qrj.1_Missense_Mutation_p.S362L	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	580	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTCCATAGTCATCCTTAGTA	0.433		NaN											0	0	0	0.008361	0	29	81				
NRAP	4892	broad.mit.edu	37	10	115402797	115402797	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115402797C>A	uc001laj.2	-	12	1275	c.1111G>T	c.(1111-1113)GTG>TTG	p.V371L	NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Missense_Mutation_p.V371L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	371	Nebulin 8.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTATACTCCACCTTGGAAATC	0.388		NaN											1	0	1.66031e-10	0.003954	1.72965e-10	26	85				
DCLRE1A	9937	broad.mit.edu	37	10	115609522	115609522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115609522C>T	uc001law.2	-	2	2260	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	448	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GATGATTCTTCAATTACCTGT	0.388		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.013114	0	47	61				
AFAP1L2	84632	broad.mit.edu	37	10	116062228	116062228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116062228C>T	uc001lbn.2	-	12	1601	c.1300G>A	c.(1300-1302)GAA>AAA	p.E434K	AFAP1L2_uc001lbo.2_Missense_Mutation_p.E434K|AFAP1L2_uc010qse.1_Missense_Mutation_p.E487K|AFAP1L2_uc001lbp.2_Missense_Mutation_p.E462K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E434K|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	434	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGCCCATTTCCTCGGAAGAC	0.607		NaN											0	0	0	0.005443	0	22	66				
FAM160B1	57700	broad.mit.edu	37	10	116593033	116593033	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116593033C>T	uc001lcb.2	+	3	501	c.166C>T	c.(166-168)CTG>TTG	p.L56L	FAM160B1_uc001lcc.2_Silent_p.L56L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	56										lung(1)	1						TCCATCGCATCTGGAACAGAT	0.353		NaN											0	0	0	0.012319	0	23	67				
RAB11FIP2	22841	broad.mit.edu	37	10	119799772	119799772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:119799772G>A	uc001ldj.1	-	2	1098	c.658C>T	c.(658-660)CAG>TAG	p.Q220*	RAB11FIP2_uc009xyz.1_Nonsense_Mutation_p.Q220*	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	220					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		GAGAGTCGCTGAGGACCCAAG	0.438		NaN											0	0	0	0.004656	0	27	262				
PRDX3	10935	broad.mit.edu	37	10	120928689	120928689	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:120928689C>T	uc001lec.2	-	6	760	c.717G>A	c.(715-717)ACG>ACA	p.T239T		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	239					cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		AAAAACCTACCGTAGGAGAAT	0.512		NaN											0	0	0	0.005443	0	26	73				
BAG3	9531	broad.mit.edu	37	10	121411190	121411190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:121411190G>A	uc001lem.2	+	1	309	c.3G>A	c.(1-3)ATG>ATA	p.M1I	BAG3_uc001lel.2_Missense_Mutation_p.M1I	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	1					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AACCCAGCATGAGCGCCGCCA	0.756		NaN											0	0	0	0.013537	0	11	6				
FGFR2	2263	broad.mit.edu	37	10	123239498	123239498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123239498G>A	uc010qtk.1	-	19	2986	c.2339C>T	c.(2338-2340)TCA>TTA	p.S780L	FGFR2_uc010qtg.1_Missense_Mutation_p.S668L|FGFR2_uc010qth.1_Missense_Mutation_p.S665L|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.S781L|FGFR2_uc010qtl.1_Missense_Mutation_p.S664L|FGFR2_uc010qtm.1_Missense_Mutation_p.S663L|FGFR2_uc001lfg.3_Missense_Mutation_p.S388L|FGFR2_uc001lfk.1_RNA	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	780	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTAACTAGGTGAATACTGTTC	0.443		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.013726	0	33	87				
FGFR2	2263	broad.mit.edu	37	10	123325072	123325072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123325072C>T	uc010qtk.1	-	3	903	c.256G>A	c.(256-258)GTG>ATG	p.V86M	FGFR2_uc010qtg.1_Missense_Mutation_p.V86M|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.V86M|FGFR2_uc010qtl.1_Missense_Mutation_p.V86M|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.V86M|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.V105M|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.V105M|FGFR2_uc010qtp.1_Missense_Mutation_p.V105M|FGFR2_uc010qtq.1_Missense_Mutation_p.V105M	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	86	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCAATAAGCACTGTCCTATTG	0.552		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.005443	0	26	80				
LHPP	64077	broad.mit.edu	37	10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126172787C>T	uc001lhs.1	+	2	225	c.205C>T	c.(205-207)CAG>TAG	p.Q69*	LHPP_uc001lht.1_Nonsense_Mutation_p.Q69*|LHPP_uc009yai.1_Nonsense_Mutation_p.Q69*	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	69					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627		NaN											0	0	0	0.010729	0	7	34				
LHPP	64077	broad.mit.edu	37	10	126301921	126301921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126301921G>C	uc001lhs.1	+	7	825	c.805G>C	c.(805-807)GAC>CAC	p.D269H	LHPP_uc001lht.1_3'UTR|LHPP_uc009yai.1_Missense_Mutation_p.D186H|LHPP_uc009yaj.1_RNA	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	269					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GCAGCACGCCGACAAGTGATG	0.388		NaN											0	0	0	0.00333	0	22	26				
ZRANB1	54764	broad.mit.edu	37	10	126670348	126670348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126670348G>A	uc001lic.2	+	6	1869	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	ZRANB1_uc010qug.1_Missense_Mutation_p.E526K	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	500	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TTCCTTGAGAGAAGAACAGTG	0.378		NaN											0	0	0	0.006122	0	17	51				
DHX32	55760	broad.mit.edu	37	10	127525285	127525285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:127525285C>T	uc001ljf.1	-	11	2694	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.E359K|DHX32_uc001ljg.1_Missense_Mutation_p.E735K|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	735						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGTTCAGTTTCAGGGCACGTC	0.498		NaN											0	0	0	0.00245	0	15	38				
GLRX3	10539	broad.mit.edu	37	10	131964842	131964842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:131964842G>A	uc001lkm.1	+	5	572	c.550G>A	c.(550-552)GAT>AAT	p.D184N	GLRX3_uc001lkn.1_Missense_Mutation_p.D184N|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	184	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TATCTTCTCAGATGAAGAGGT	0.383		NaN											0	0	0	0.00278	0	24	100				
DPYSL4	10570	broad.mit.edu	37	10	134015509	134015509	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134015509A>C	uc009ybb.2	+	11	1324	c.1170A>C	c.(1168-1170)AAA>AAC	p.K390N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	390					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGCTGCCAAAATCTTCAATT	0.557		NaN											0	0	0	0.00333	0	23	126				
PWWP2B	170394	broad.mit.edu	37	10	134218707	134218707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134218707G>A	uc001lll.3	+	2	732	c.703G>A	c.(703-705)GAG>AAG	p.E235K	PWWP2B_uc009ybe.2_Missense_Mutation_p.E235K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	235											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAGCAAGAGGGAGAGGCGCGA	0.716		NaN											0	0	0	0.004672	0	3	7				
C10orf91	170393	broad.mit.edu	37	10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134261557G>A	uc001llm.2	+	3	470	c.430G>A	c.(430-432)GAA>AAA	p.E144K		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	hypothetical protein LOC170393	144										ovary(1)	1		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662		NaN											0	0	0	0.00333	0	22	109				
INPP5A	3632	broad.mit.edu	37	10	134511403	134511403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134511403C>T	uc001llp.2	+	6	702	c.454C>T	c.(454-456)CCG>TCG	p.P152S	INPP5A_uc001llo.1_Missense_Mutation_p.P152S|INPP5A_uc001llq.2_Missense_Mutation_p.P104S	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	152				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGAGAAGTTTCCGCAGGACTA	0.498		NaN											0	0	0	0.010729	0	10	34				
HRAS	3265	broad.mit.edu	37	11	533785	533785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:533785C>T	uc001lpv.2	-	3	459	c.271G>A	c.(271-273)GAG>AAG	p.E91K	HRAS_uc010qvw.1_Missense_Mutation_p.E91K|HRAS_uc010qvx.1_Missense_Mutation_p.E91K|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	91					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TGGATGTCCTCAAAAGACTTG	0.657		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			0	0	0	0.010504	0	20	35		Valid		
RASSF7	8045	broad.mit.edu	37	11	563424	563424	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:563424C>T	uc001lqc.2	+	5	1015	c.980C>T	c.(979-981)TCC>TTC	p.S327F	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_3'UTR|RASSF7_uc001lqb.2_3'UTR|RASSF7_uc001lqd.2_Intron	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	327					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGAGGAGTCCCTCCTGGGC	0.697		NaN											0	0	0	0.001168	0	5	12				
PHRF1	57661	broad.mit.edu	37	11	597514	597514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:597514G>A	uc001lqe.2	+	8	969	c.838G>A	c.(838-840)GAG>AAG	p.E280K	PHRF1_uc010qwc.1_Missense_Mutation_p.E280K|PHRF1_uc010qwd.1_Missense_Mutation_p.E279K|PHRF1_uc010qwe.1_Missense_Mutation_p.E276K|PHRF1_uc009ybz.1_Missense_Mutation_p.E71K	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	280	Arg-rich.						RNA polymerase binding|zinc ion binding				0						ACGGCAGAGTGAGAGAGTGAG	0.662		NaN											0	0	0	0.000602	0	5	17				
CDHR5	53841	broad.mit.edu	37	11	617418	617419	+	Missense_Mutation	DNP	TC	TC	AT	rs76054644		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:617418_617419TC>AT	uc001lqj.2	-	15	2575_2576	c.2470_2471GA>AT	c.(2470-2472)GAG>ATG	p.E824M	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.E630M|CDHR5_uc009ycc.2_Missense_Mutation_p.E658M|CDHR5_uc009ycd.2_Missense_Mutation_p.E818M|CDHR5_uc001lql.2_Missense_Mutation_p.E824M	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	824	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCCCTCGCCCTCATCGCCGCTG	0.688		NaN											0	0	0	0.004672	0	4	11				
TMEM80	283232	broad.mit.edu	37	11	702971	702971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:702971G>A	uc001lqr.2	+	5	465	c.328G>A	c.(328-330)GAG>AAG	p.E110K	TMEM80_uc001lqs.2_Missense_Mutation_p.E102K|TMEM80_uc010qwi.1_Missense_Mutation_p.E110K	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	transmembrane protein 80 isoform 2	110						integral to membrane					0		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAGAGGCTGAGAGGCCGCT	0.692		NaN											0	0	0	0.010729	0	11	36				
TMEM80	283232	broad.mit.edu	37	11	703075	703075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:703075C>T	uc001lqr.2	+	5	569	c.432C>T	c.(430-432)CTC>CTT	p.L144L	TMEM80_uc001lqs.2_Silent_p.L136L|TMEM80_uc010qwi.1_Silent_p.L144L	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	transmembrane protein 80 isoform 2	144	Helical; (Potential).					integral to membrane					0		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGGGCCCTCAGCGCCACGC	0.701		NaN											0	0	0	0.001984	0	7	35				
MUC2	4583	broad.mit.edu	37	11	1081800	1081800	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1081800G>A	uc001lsx.1	+	13	1755	c.1728G>A	c.(1726-1728)CTG>CTA	p.L576L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	576	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCTCCCTGAACATCGAGA	0.677		NaN											0	0	0	0.006122	0	16	20				
MUC5B	727897	broad.mit.edu	37	11	1276623	1276623	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1276623G>A	uc009ycr.1	+	59	17038	c.16912G>A	c.(16912-16914)GAG>AAG	p.E5638K	MUC5B_uc001ltb.2_Missense_Mutation_p.E5304K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5301	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTCTTTGCTGAGTGCCACAA	0.597		NaN											0	0	0	0.000602	0	4	5				
SYT8	90019	broad.mit.edu	37	11	1856335	1856335	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856335G>A	uc001lue.1	+	2	170	c.42G>A	c.(40-42)AAG>AAA	p.K14K	SYT8_uc010qxb.1_5'UTR|SYT8_uc001lud.2_Silent_p.K14K|SYT8_uc001luf.1_5'UTR|SYT8_uc009ydb.1_5'UTR	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	14	Extracellular (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGGTAGAAAGATGGGGCACC	0.657		NaN											0	0	0	0.001168	0	6	34				
SYT8	90019	broad.mit.edu	37	11	1856355	1856355	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856355C>G	uc001lue.1	+	2	190	c.62C>G	c.(61-63)TCT>TGT	p.S21C	SYT8_uc010qxb.1_Missense_Mutation_p.S7C|SYT8_uc001lud.2_Missense_Mutation_p.S21C|SYT8_uc001luf.1_Missense_Mutation_p.S7C|SYT8_uc009ydb.1_Missense_Mutation_p.S7C	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	21	Extracellular (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACCAGTCTCTCCCAGTGCC	0.662		NaN											0	0	0	0.000602	0	5	37				
SYT8	90019	broad.mit.edu	37	11	1856543	1856543	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856543A>C	uc001lue.1	+	3	282	c.154A>C	c.(154-156)ATT>CTT	p.I52L	SYT8_uc010qxb.1_Missense_Mutation_p.I38L|SYT8_uc001lud.2_Missense_Mutation_p.I52L|SYT8_uc001luf.1_Missense_Mutation_p.I38L|SYT8_uc009ydb.1_Missense_Mutation_p.I38L	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	52	Helical; Signal-anchor for type III membrane protein; (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGGCTCTCATTGCCGGCGC	0.677		NaN											0	0	0	0.003954	0	20	42				
NUP98	4928	broad.mit.edu	37	11	3707310	3707310	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:3707310G>C	uc001lyh.2	-	29	4860	c.4569C>G	c.(4567-4569)CTC>CTG	p.L1523L	NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Silent_p.L488L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1540					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCGCTGAGAGATGGGTGT	0.557		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.004007	0	17	82				
OR51D1	390038	broad.mit.edu	37	11	4661061	4661061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:4661061C>G	uc010qyk.1	+	1	41	c.41C>G	c.(40-42)TCA>TGA	p.S14*		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCCACTTCAAATGGAAAT	0.473		NaN											0	0	0	0.009535	0	29	145				
OR51L1	119682	broad.mit.edu	37	11	5020915	5020915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5020915G>C	uc010qyu.1	+	1	703	c.703G>C	c.(703-705)GAG>CAG	p.E235Q		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTCGTGAAGAGCAGCTAAA	0.423		NaN											0	0	0	0.00499	0	18	82				
OR52A1	23538	broad.mit.edu	37	11	5173165	5173165	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5173165C>G	uc010qyy.1	-	1	435	c.435G>C	c.(433-435)CAG>CAC	p.Q145H		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTTCCTATCTGAATGACAA	0.483		NaN											0	0	0	0.00278	0	23	51				
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624476	5624476	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624476G>A	uc001mbf.2	+	2	262	c.18G>A	c.(16-18)AGG>AGA	p.R6R	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_5'UTR|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_5'UTR|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.R6R|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	6						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ATCTACCTAGGATTCTACAGG	0.473		NaN											0	0	0	0.003954	0	25	39				
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624860	5624860	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624860C>G	uc001mbf.2	+	2	646	c.402C>G	c.(400-402)CTC>CTG	p.L134L	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Silent_p.L106L|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.L134L|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	134						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AACTGCAGCTCTTCTGTCAGG	0.557		NaN											0	0	0	0.009718	0	40	65				
TAF10	6881	broad.mit.edu	37	11	6632638	6632638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632638C>T	uc001mej.1	-	3	458	c.433G>A	c.(433-435)GAG>AAG	p.E145K		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	145					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGAGGCCTCAAAGCCAGCA	0.493		NaN											0	0	0	0.012319	0	21	18				
TAF10	6881	broad.mit.edu	37	11	6632654	6632654	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632654C>T	uc001mej.1	-	3	442	c.417G>A	c.(415-417)CTG>CTA	p.L139L		NM_006284	NP_006275	Q12962	TAF10_HUMAN	TBP-related factor 10	139					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCACGGTTCAGGTAGTAAC	0.502		NaN											0	0	0	0.007413	0	18	15				
DCHS1	8642	broad.mit.edu	37	11	6648801	6648801	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6648801C>G	uc001mem.1	-	14	5879	c.5469G>C	c.(5467-5469)CTG>CTC	p.L1823L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1823	Cadherin 17.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTATCCTCAGCTGGAAAG	0.577		NaN											0	0	0	0.006214	0	9	16				
DCHS1	8642	broad.mit.edu	37	11	6661224	6661225	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661224_6661225CC>TA	uc001mem.1	-	2	2030_2031	c.1620_1621GG>TA	c.(1618-1623)TTGGAA>TTTAAA	p.540_541LE>FK		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	540_541	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGAGGTTCCAACTCATAGT	0.569		NaN											0	0	0	0.004672	0	11	33				
DCHS1	8642	broad.mit.edu	37	11	6661230	6661230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661230C>T	uc001mem.1	-	2	2025	c.1615G>A	c.(1615-1617)GAG>AAG	p.E539K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	539	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCCAACTCATAGTCCAGT	0.582		NaN											0	0	0	0.003163	0	11	33				
MRPL17	63875	broad.mit.edu	37	11	6704022	6704022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6704022C>T	uc001men.2	-	2	304	c.199G>A	c.(199-201)GAC>AAC	p.D67N		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17 precursor	67					translation	ribosome	protein domain specific binding|structural constituent of ribosome				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGTTAGTGTCTCCCAGCTTC	0.532		NaN											0	0	0	0.005443	0	23	9				
OLFML1	283298	broad.mit.edu	37	11	7509610	7509610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:7509610G>A	uc001mfi.2	+	2	734	c.382G>A	c.(382-384)GAA>AAA	p.E128K	uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.E128K|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.E128K	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	128	Potential.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCAAGAAGCTGAAGAAGAGAA	0.458		NaN											0	0	0	0.00308	0	7	15				
EIF3F	8665	broad.mit.edu	37	11	8014480	8014480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:8014480G>A	uc001mfw.2	+	4	595	c.562G>A	c.(562-564)GAG>AAG	p.E188K	EIF3F_uc010rbj.1_Missense_Mutation_p.E39K	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	188	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGATCCACGAGTACTACAG	0.542		NaN											0	0	0	0.01441	0	62	46				
SCUBE2	57758	broad.mit.edu	37	11	9088303	9088303	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9088303C>A	uc001mhh.1	-	6	781	c.701G>T	c.(700-702)GGC>GTC	p.G234V	SCUBE2_uc001mhi.1_Missense_Mutation_p.G234V|SCUBE2_uc001mhj.1_Missense_Mutation_p.G234V	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	234	EGF-like 5 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACTCTGGGCCATCGGCTGT	0.537		NaN											1	0	5.35267e-07	0.007413	5.50488e-07	16	10				
IPO7	10527	broad.mit.edu	37	11	9424908	9424908	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9424908G>C	uc001mho.2	+	2	298	c.156G>C	c.(154-156)GTG>GTC	p.V52V		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	52	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTTACCTGTGAGACAGGCAG	0.378		NaN											0	0	0	0.007413	0	18	49				
WEE1	7465	broad.mit.edu	37	11	9597434	9597434	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9597434G>A	uc001mhs.2	+	2	830	c.577_splice	c.e2-1	p.S193_splice	WEE1_uc001mht.2_Splice_Site|WEE1_uc001mhu.2_5'UTR	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1						blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCTTTCCCTAGAGTTTGCTCT	0.413		NaN											0	0	0	0.006214	0	10	56				
WEE1	7465	broad.mit.edu	37	11	9598771	9598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9598771G>A	uc001mhs.2	+	5	1355	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K	WEE1_uc001mht.2_Missense_Mutation_p.E154K|WEE1_uc001mhu.2_Missense_Mutation_p.E154K	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	368	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCGTGGGCAGAAGATGATCA	0.373		NaN											0	0	0	0.003954	0	24	138				
EIF4G2	1982	broad.mit.edu	37	11	10822517	10822517	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:10822517G>A	uc001mjc.2	-	15	1948	c.1531C>T	c.(1531-1533)CTG>TTG	p.L511L	EIF4G2_uc001mjb.2_Silent_p.L305L|EIF4G2_uc009ygf.2_Silent_p.L305L|EIF4G2_uc001mjd.2_Silent_p.L473L|EIF4G2_uc001mjf.1_Silent_p.L267L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	511					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCTGTCCCAGAGGTGGTGTT	0.413		NaN											0	0	0	0.004878	0	38	134				
PLEKHA7	144100	broad.mit.edu	37	11	16838617	16838617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:16838617G>C	uc001mmo.2	-	11	1611	c.1596C>G	c.(1594-1596)TTC>TTG	p.F532L	PLEKHA7_uc010rcu.1_Missense_Mutation_p.F532L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.F106L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.F240L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	532					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TGCCGTGCCGGAACTGCTGGC	0.677		NaN											0	0	0	0.010729	0	11	20				
PIK3C2A	5286	broad.mit.edu	37	11	17121480	17121480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:17121480G>C	uc001mmq.3	-	25	4111	c.4045C>G	c.(4045-4047)CAA>GAA	p.Q1349E	PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Q969E|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1349	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TTCAAATCTTGAATACTTGTA	0.333		NaN											0	0	0	0.014323	0	22	88				
SAA4	6291	broad.mit.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:18253209C>T	uc001mny.2	-	4	329	c.233G>A	c.(232-234)CGT>CAT	p.R78H		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	78					acute-phase response	high-density lipoprotein particle					0						GACCCTGGAACGGCTGCAACC	0.488		NaN											0	0	0	0.00308	0	8	47				
CSRP3	8048	broad.mit.edu	37	11	19204293	19204293	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:19204293A>T	uc001mpk.2	-	6	626	c.509T>A	c.(508-510)GTT>GAT	p.V170D		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	170	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						GGCATAGCAAACTGTGAATGA	0.428		NaN											0	0	0	0.00333	0	24	65				
FANCF	2188	broad.mit.edu	37	11	22646239	22646239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22646239G>A	uc001mql.1	-	1	1149	c.1118C>T	c.(1117-1119)TCT>TTT	p.S373F		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	373					DNA repair	nucleoplasm	protein binding			skin(1)	1						TGCCTATACAGAACTGAGGCC	0.383		NaN	N|F			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.010771	0	42	56				
GAS2	2620	broad.mit.edu	37	11	22707331	22707331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22707331C>T	uc009yie.2	+	3	569	c.263C>T	c.(262-264)ACA>ATA	p.T88I	GAS2_uc001mqm.2_Missense_Mutation_p.T88I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.T88I	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	88	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						AACAAGCCCACAAAGGTAAAA	0.358		NaN											0	0	0	0.00632	0	29	32				
LUZP2	338645	broad.mit.edu	37	11	25004745	25004745	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:25004745C>A	uc001mqs.2	+	9	905	c.671C>A	c.(670-672)CCC>CAC	p.P224H	LUZP2_uc009yif.2_Missense_Mutation_p.P138H|LUZP2_uc009yig.2_Missense_Mutation_p.P182H	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	224	Poly-Pro.					extracellular region				ovary(1)|skin(1)	2						CAGCCTCCTCCCCCTTTGAGT	0.448		NaN											1	0	4.41824e-40	0.01441	4.69519e-40	82	80				
ANO3	63982	broad.mit.edu	37	11	26465320	26465320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:26465320G>A	uc001mqt.3	+	3	395	c.250G>A	c.(250-252)GAG>AAG	p.E84K	ANO3_uc010rdr.1_Missense_Mutation_p.E68K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	84	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGTTAATACTGAGGAGAATAA	0.338		NaN											0	0	0	0.010729	0	10	28				
NAT10	55226	broad.mit.edu	37	11	34167693	34167693	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34167693G>C	uc001mvk.2	+	29	3276	c.3032G>C	c.(3031-3033)AGA>ACA	p.R1011T	NAT10_uc010ren.1_Missense_Mutation_p.R939T	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	1011	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGAAGAACAGAGAGACAAAG	0.358		NaN											0	0	0	0.004672	0	3	15				
EHF	26298	broad.mit.edu	37	11	34680084	34680084	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34680084G>A	uc001mvr.1	+	8	723	c.612G>A	c.(610-612)CCG>CCA	p.P204P	EHF_uc009yke.1_Silent_p.P181P|EHF_uc009ykf.1_Silent_p.P207P	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	204					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CATCAGACCCGAGAGGGACTC	0.468		NaN											0	0	0	0.01441	0	50	33				
CRY2	1408	broad.mit.edu	37	11	45889168	45889168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:45889168G>C	uc010rgn.1	+	6	832	c.810G>C	c.(808-810)TGG>TGC	p.W270C	CRY2_uc009ykw.2_Missense_Mutation_p.W188C|CRY2_uc010rgo.1_5'UTR	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	249	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						TGTAGGCCTGGGTTGCCAACT	0.433		NaN											0	0	0	0.005443	0	26	75				
AMBRA1	55626	broad.mit.edu	37	11	46563761	46563761	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46563761G>A	uc010rgu.1	-	7	2166	c.1806C>T	c.(1804-1806)GTC>GTT	p.V602V	AMBRA1_uc010rgt.1_Silent_p.V168V|AMBRA1_uc009ylc.1_Silent_p.V602V|AMBRA1_uc001ncu.1_Silent_p.V512V|AMBRA1_uc001ncv.2_Silent_p.V512V|AMBRA1_uc001ncw.2_Silent_p.V512V|AMBRA1_uc001ncx.2_Silent_p.V602V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	602	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGAGCTGGGGACCTGCCAAG	0.582		NaN											0	0	0	0.006214	0	8	28				
F2	2147	broad.mit.edu	37	11	46749600	46749600	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46749600C>T	uc001ndf.3	+	10	1228	c.1185C>T	c.(1183-1185)CTC>CTT	p.L395L	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	395	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGGCCAGCCTCATCAGTGACC	0.627		NaN											0	0	0	0.009096	0	4	12				
LRP4	4038	broad.mit.edu	37	11	46890629	46890629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46890629C>T	uc001ndn.3	-	32	4893	c.4747G>A	c.(4747-4749)GAC>AAC	p.D1583N	uc001ndl.2_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1583	Extracellular (Potential).|LDL-receptor class B 20.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAGTATTTGTCAACACGCTGG	0.507		NaN											0	0	0	0.010504	0	21	35				
MYBPC3	4607	broad.mit.edu	37	11	47354825	47354825	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47354825G>A	uc001nfa.3	-	29	3305	c.3250C>T	c.(3250-3252)CTG>TTG	p.L1084L		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1083	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		TTCCACTCCAGAGCCACATTA	0.617		NaN											0	0	0	0.00308	0	7	1				
SLC39A13	91252	broad.mit.edu	37	11	47433961	47433961	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47433961G>A	uc009ylq.2	+	4	651	c.480G>A	c.(478-480)CTG>CTA	p.L160L	SLC39A13_uc001nfd.2_Silent_p.L160L|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Silent_p.L160L|SLC39A13_uc001nfg.3_Silent_p.L160L	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	160	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		CTGGCATCCTGACCTTCCTGG	0.562		NaN									OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	12	22				
AGBL2	79841	broad.mit.edu	37	11	47721019	47721019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47721019C>T	uc001ngg.2	-	7	773	c.673G>A	c.(673-675)GTT>ATT	p.V225I	AGBL2_uc010rhq.1_Missense_Mutation_p.V187I|AGBL2_uc001ngh.1_Missense_Mutation_p.V169I	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	225					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TGATAGACAACTGTTCCTTTT	0.333		NaN											0	0	0	0.014323	0	21	74				
OR8J3	81168	broad.mit.edu	37	11	55904807	55904807	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:55904807G>C	uc010riz.1	-	1	388	c.388C>G	c.(388-390)CTG>GTG	p.L130V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					ATGTAGAGCAGAGGGTTACAA	0.507		NaN											0	0	0	0.005443	0	20	105				
OR5T2	219464	broad.mit.edu	37	11	56000467	56000467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56000467G>C	uc010rjc.1	-	1	195	c.195C>G	c.(193-195)ATC>ATG	p.I65M		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	65	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGAAGAAGAAGATAGTCTGCA	0.388		NaN											0	0	0	0.008361	0	32	46				
OR5M3	219482	broad.mit.edu	37	11	56237065	56237065	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237065G>A	uc010rjk.1	-	1	909	c.909C>T	c.(907-909)ATC>ATT	p.I303I		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATGATCTGCTGATCACTTTCA	0.343		NaN											0	0	0	0.00333	0	18	25				
OR5M3	219482	broad.mit.edu	37	11	56237767	56237767	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237767C>T	uc010rjk.1	-	1	207	c.207G>A	c.(205-207)GTG>GTA	p.V69V		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AAGAAAACCACACATCAACAA	0.388		NaN											0	0	0	0.01441	0	54	87				
RTN4RL2	349667	broad.mit.edu	37	11	57243799	57243799	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:57243799C>T	uc010rjt.1	+	3	678	c.678C>T	c.(676-678)CTC>CTT	p.L226L		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	226					axon regeneration	anchored to plasma membrane	receptor activity				0						TCCGCGGCCTCAGCCGCCTCA	0.706		NaN											0	0	0	0.001855	0	6	8				
DTX4	23220	broad.mit.edu	37	11	58940200	58940200	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:58940200G>A	uc001nns.2	+	1	389	c.132G>A	c.(130-132)GTG>GTA	p.V44V	DTX4_uc001nnr.2_Intron	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	44	WWE 1.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				ggggcAGCGTGGTGCTGGGCC	0.582		NaN											0	0	0	0.000602	0	5	1				
MS4A2	2206	broad.mit.edu	37	11	59856269	59856269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:59856269C>T	uc001nop.2	+	1	133	c.31C>T	c.(31-33)CTT>TTT	p.L11F	MS4A2_uc009ymu.2_Missense_Mutation_p.L11F	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	11	Cytoplasmic (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAGAGCAAATCTTGCTCTCCC	0.413		NaN											0	0	0	0.010729	0	11	21				
MS4A14	84689	broad.mit.edu	37	11	60164085	60164085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60164085C>T	uc001npj.2	+	1	599	c.34C>T	c.(34-36)CAC>TAC	p.H12Y	MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.H12Y|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	12						integral to membrane	receptor activity			breast(1)	1						AAGGGCAACTCACGTCATCAC	0.453		NaN											0	0	0	0.013537	0	12	27				
CD6	923	broad.mit.edu	37	11	60781007	60781007	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60781007C>T	uc001nqq.2	+	7	1486	c.1263C>T	c.(1261-1263)TTC>TTT	p.F421F	CD6_uc009yni.2_Silent_p.F320F|CD6_uc009ynj.2_Silent_p.F298F|CD6_uc001nqp.2_Silent_p.F421F|CD6_uc001nqr.2_Silent_p.F421F|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.F421F	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	421	Helical; (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCATAGCCTTCATCCTCTTGA	0.507		NaN											0	0	0	0.01441	0	60	176				
DDB1	1642	broad.mit.edu	37	11	61067688	61067688	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:61067688C>T	uc001nrc.3	-	27	3569	c.3343G>A	c.(3343-3345)GAC>AAC	p.D1115N		NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	1115	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CTGCCATCGTCATACTGCAAT	0.592		NaN						NER					0	0	0	0.001168	0	5	13				
AHNAK	79026	broad.mit.edu	37	11	62297473	62297473	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62297473T>C	uc001ntl.2	-	5	4716	c.4416A>G	c.(4414-4416)ACA>ACG	p.T1472T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1472					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTTTGGAACTGTTACATCAT	0.398		NaN											0	0	0	0.01441	0	186	191				
EML3	256364	broad.mit.edu	37	11	62372641	62372641	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62372641G>C	uc001ntu.1	-	16	2234	c.1926C>G	c.(1924-1926)CTC>CTG	p.L642L	EML3_uc001ntr.1_Silent_p.L614L|EML3_uc001nts.1_Silent_p.L614L|EML3_uc001ntt.1_Silent_p.L526L|EML3_uc010rly.1_Silent_p.L642L	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	642						cytoplasm|microtubule	protein binding			ovary(1)	1						AGTCAGCACAGAGACCAGTCT	0.562		NaN											0	0	0	0.004007	0	16	57				
GANAB	23193	broad.mit.edu	37	11	62400737	62400737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62400737C>T	uc001nub.2	-	7	670	c.637G>A	c.(637-639)GAG>AAG	p.E213K	GANAB_uc001nua.2_Missense_Mutation_p.E235K|GANAB_uc001nuc.2_Missense_Mutation_p.E116K|GANAB_uc010rma.1_Missense_Mutation_p.E121K|GANAB_uc010rmb.1_Missense_Mutation_p.E99K	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CCCTGAGTCTCCTCTGGCTGT	0.522		NaN											0	0	0	0.001984	0	7	157				
GANAB	23193	broad.mit.edu	37	11	62406471	62406471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62406471C>T	uc001nub.2	-	4	397	c.364G>A	c.(364-366)GAT>AAT	p.D122N	GANAB_uc001nua.2_Missense_Mutation_p.D122N|GANAB_uc001nuc.2_Missense_Mutation_p.D25N|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	122					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTGGTGGATCAGCCACCAAA	0.483		NaN											0	0	0	0.007413	0	20	28				
TTC9C	283237	broad.mit.edu	37	11	62505817	62505817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62505817G>C	uc001nuy.2	+	3	848	c.479G>C	c.(478-480)AGA>ACA	p.R160T	TTC9C_uc001nux.2_Missense_Mutation_p.R293T	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	160							binding			ovary(1)|pancreas(1)	2						AGCTACCATAGAAAAGAGAAG	0.458		NaN											0	0	0	0.004672	0	3	18				
ZBTB3	79842	broad.mit.edu	37	11	62519909	62519909	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62519909C>A	uc001nuz.2	-	2	1500	c.1378G>T	c.(1378-1380)GCT>TCT	p.A460S		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CTTCCTGGAGCTGCTTCGTAC	0.552		NaN											1	0	7.11191e-15	0.013726	7.46269e-15	34	60				
NXF1	10482	broad.mit.edu	37	11	62563940	62563940	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62563940G>C	uc001nvf.1	-	14	1414	c.1278C>G	c.(1276-1278)AAC>AAG	p.N426K	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.N469K	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	426	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						ACCGGGCAGGGTTCTGAGGAA	0.562		NaN											0	0	0	0.008291	0	10	111				
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62767306C>T	uc001nwo.2	-	4	582	c.446G>A	c.(445-447)CGC>CAC	p.R149H	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H|SLC22A8_uc009yom.2_Missense_Mutation_p.R26H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R58H|SLC22A8_uc009yon.2_Missense_Mutation_p.R149H	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	149	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						GATGGGCCTGCGGCCAAACCT	0.627		NaN											0	0	0	0.000602	0	4	22				
MARK2	2011	broad.mit.edu	37	11	63668428	63668428	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:63668428G>A	uc001nxw.2	+	11	1568	c.989_splice	c.e11-1	p.E330_splice	MARK2_uc001nxx.2_Splice_Site_p.E330_splice|MARK2_uc001nxy.2_Splice_Site_p.E330_splice|MARK2_uc001nxv.3_Splice_Site_p.E330_splice|MARK2_uc001nxz.3_Splice_Site_p.E297_splice|MARK2_uc009yoy.2_Splice_Site_p.E297_splice	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2						cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CCCCTGTGCAGAGCTGATGGT	0.577		NaN											0	0	0	0.01441	0	49	57				
GPR137	56834	broad.mit.edu	37	11	64054074	64054074	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64054074G>A	uc001nzg.1	+	2	386	c.78G>A	c.(76-78)CTG>CTA	p.L26L	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Silent_p.L32L|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Silent_p.L84L|GPR137_uc001nze.1_Silent_p.L26L|GPR137_uc001nzf.2_Silent_p.L26L|GPR137_uc001nzh.1_Silent_p.L26L|GPR137_uc001nzi.2_Silent_p.L26L|GPR137_uc010rnj.1_Silent_p.L26L	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	26	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						CCCTGGGGCTGACAGCTGCCT	0.617		NaN											0	0	0	0.009535	0	29	87				
KCNK4	50801	broad.mit.edu	37	11	64067112	64067112	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64067112A>C	uc001nzj.1	+	7	1419	c.1096A>C	c.(1096-1098)AGA>CGA	p.R366R	KCNK4_uc001nzk.1_Missense_Mutation_p.E250A|KCNK4_uc010rnk.1_Silent_p.R194R|KCNK4_uc001nzl.1_Missense_Mutation_p.E250A|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.R366R|KCNK4_uc001nzo.2_Silent_p.R366R|KCNK4_uc001nzp.1_Silent_p.R252R|C11orf20_uc009ypm.2_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	366	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CCGCGCGCCGAGAGGTCGCCG	0.627		NaN											0	0	0	0.000602	0	4	19				
TRMT112	51504	broad.mit.edu	37	11	64084577	64084577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64084577C>T	uc001nzt.2	-	3	258	c.223G>A	c.(223-225)GAG>AAG	p.E75K	PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog	75	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity				0						TCATTCTCCTCATATCCCTCA	0.617		NaN											0	0	0	0.009535	0	27	29				
RPS6KA4	8986	broad.mit.edu	37	11	64138842	64138842	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64138842A>T	uc001oae.2	+	17	2292	c.2209A>T	c.(2209-2211)AGC>TGC	p.S737C	RPS6KA4_uc001oad.2_Missense_Mutation_p.S731C|RPS6KA4_uc010rnl.1_Missense_Mutation_p.S674C|RPS6KA4_uc001oaf.2_Missense_Mutation_p.S730C|RPS6KA4_uc009ypp.2_Missense_Mutation_p.S489C	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	737					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						GAAGCTGCGGAGCGCCACCGC	0.721		NaN											0	0	0	0.001168	0	4	20				
SF1	7536	broad.mit.edu	37	11	64536954	64536954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64536954G>A	uc001obb.1	-	6	984	c.607C>T	c.(607-609)CTT>TTT	p.L203F	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.L177F|SF1_uc001oaz.1_Missense_Mutation_p.L328F|SF1_uc001oba.1_Missense_Mutation_p.L203F|SF1_uc001obc.1_Missense_Mutation_p.L203F|SF1_uc001obd.1_Missense_Mutation_p.L203F|SF1_uc001obe.1_Missense_Mutation_p.L88F|SF1_uc010rno.1_Missense_Mutation_p.L88F	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	203	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						AGGGCATGAAGTGGCTCATCT	0.522		NaN											0	0	0	0.01441	0	141	243				
MEN1	4221	broad.mit.edu	37	11	64571923	64571923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64571923C>T	uc001obj.2	-	10	1804	c.1731G>A	c.(1729-1731)TCG>TCA	p.S577S	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.S577S|MEN1_uc001obl.2_Silent_p.S537S|MEN1_uc001obm.2_Silent_p.S572S|MEN1_uc001obn.2_Silent_p.S577S|MEN1_uc001obo.2_Silent_p.S577S|MEN1_uc001obp.2_Silent_p.S572S|MEN1_uc001obq.2_Silent_p.S577S|MEN1_uc001obr.2_Silent_p.S577S	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	577					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.S573_A574del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						TGATGGCGCTCGAGTTGATCT	0.562		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.01441	0	148	159				
MEN1	4221	broad.mit.edu	37	11	64577195	64577195	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64577195G>A	uc001obj.2	-	2	460	c.387C>T	c.(385-387)CTC>CTT	p.L129L	MEN1_uc001obk.2_Silent_p.L129L|MEN1_uc001obl.2_Silent_p.L129L|MEN1_uc001obm.2_Silent_p.L129L|MEN1_uc001obn.2_Silent_p.L129L|MEN1_uc001obo.2_Silent_p.L129L|MEN1_uc001obp.2_Silent_p.L129L|MEN1_uc001obq.2_Silent_p.L129L|MEN1_uc001obr.2_Silent_p.L129L	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	129					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.I125fs*53(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						AGGAGCGGCTGAGGCTGTTCC	0.572		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.01441	0	62	119				
SLC25A45	283130	broad.mit.edu	37	11	65147003	65147003	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65147003G>A	uc001odp.1	-	4	605	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Silent_p.F37F|SLC25A45_uc001odr.1_Silent_p.F61F|SLC25A45_uc001ods.1_Silent_p.F19F|SLC25A45_uc001odt.1_Silent_p.F19F	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	61	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						TGGCAATGGGGAAGCTCATTC	0.622		NaN											0	0	0	0.004007	0	17	41				
FRMD8	83786	broad.mit.edu	37	11	65161130	65161130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65161130G>A	uc001odu.3	+	4	532	c.340G>A	c.(340-342)GAT>AAT	p.D114N	FRMD8_uc009yqj.2_Missense_Mutation_p.D58N|FRMD8_uc010rof.1_Intron	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	114	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						TGCCCCAGACGATGACGTGGC	0.652		NaN											0	0	0	0.000602	0	5	13				
PCNXL3	399909	broad.mit.edu	37	11	65401671	65401671	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65401671G>A	uc001oey.2	+	28	4545	c.4545G>A	c.(4543-4545)CTG>CTA	p.L1515L	PCNXL3_uc001oez.2_Silent_p.L402L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1515						integral to membrane					0						CGGCAGCCCTGAGGCCTGTGC	0.642		NaN											0	0	0	0.001168	0	5	20				
GAL3ST3	89792	broad.mit.edu	37	11	65812872	65812872	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65812872G>A	uc001ogv.2	-	1	175	c.15C>T	c.(13-15)CTC>CTT	p.L5L	GAL3ST3_uc001ogw.2_Silent_p.L5L	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	5	Cytoplasmic (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						GCAGGCGCTGGAGGATGGGTG	0.647		NaN									OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	36				
RIN1	9610	broad.mit.edu	37	11	66099752	66099752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099752C>G	uc001ohn.1	-	10	2474	c.2347G>C	c.(2347-2349)GAG>CAG	p.E783Q	RIN1_uc010roy.1_Missense_Mutation_p.E414Q|RIN1_uc009yrd.1_Missense_Mutation_p.E476Q|RIN1_uc010roz.1_Missense_Mutation_p.E678Q|RIN1_uc010rpa.1_Missense_Mutation_p.E617Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	783					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						TCAAGCTACTCCTCTGCTGCC	0.632		NaN											0	0	0	0.01441	0	53	122				
RIN1	9610	broad.mit.edu	37	11	66099842	66099842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099842C>G	uc001ohn.1	-	10	2384	c.2257G>C	c.(2257-2259)GAG>CAG	p.E753Q	RIN1_uc010roy.1_Missense_Mutation_p.E384Q|RIN1_uc009yrd.1_Missense_Mutation_p.E446Q|RIN1_uc010roz.1_Missense_Mutation_p.E648Q|RIN1_uc010rpa.1_Missense_Mutation_p.E587Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	753					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						GCAGTTGTCTCAGACTGTTCC	0.632		NaN											0	0	0	0.01441	0	60	159				
NPAS4	266743	broad.mit.edu	37	11	66192561	66192561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66192561G>A	uc001ohx.1	+	7	2376	c.2200G>A	c.(2200-2202)GAG>AAG	p.E734K	NPAS4_uc010rpc.1_Missense_Mutation_p.E524K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	734					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TCCTGAGGCAGAGGGCCCAGG	0.577		NaN											0	0	0	0.007291	0	30	139				
BBS1	582	broad.mit.edu	37	11	66291352	66291352	+	Missense_Mutation	SNP	C	C	G	rs141255069	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66291352C>G	uc001oij.1	+	11	1121	c.1109C>G	c.(1108-1110)CCG>CGG	p.P370R	BBS1_uc001oii.1_Missense_Mutation_p.P407R|BBS1_uc010rpg.1_Missense_Mutation_p.P273R|BBS1_uc001oik.1_Missense_Mutation_p.P294R|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.P38R	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	370					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						ATCCACACCCCGGTGAGCCCC	0.587		NaN							Bardet-Biedl_syndrome				0	0	0	0.001984	0	6	57				
ADRBK1	156	broad.mit.edu	37	11	67051768	67051768	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:67051768C>T	uc009yrn.1	+	18	1844	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	526					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGACTGTCTTCGACACCATCA	0.602		NaN											0	0	0	0.00245	0	13	81				
SAPS3	55291	broad.mit.edu	37	11	68363635	68363635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68363635G>A	uc001onw.2	+	19	2254	c.1987G>A	c.(1987-1989)GAA>AAA	p.E663K	SAPS3_uc001onv.2_Missense_Mutation_p.E663K|SAPS3_uc001ony.3_Missense_Mutation_p.E634K|SAPS3_uc001onx.2_Missense_Mutation_p.E657K|SAPS3_uc009ysh.2_Missense_Mutation_p.E583K|SAPS3_uc001onu.2_Missense_Mutation_p.E583K|SAPS3_uc010rqc.1_Missense_Mutation_p.E431K|SAPS3_uc010rqd.1_Missense_Mutation_p.E346K|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.E113K	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	663					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			AGACTTGTTTGAACCCAGCAG	0.453		NaN											0	0	0	0.01441	0	51	50				
CPT1A	1374	broad.mit.edu	37	11	68527743	68527743	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68527743C>G	uc001oog.3	-	17	2262	c.2092G>C	c.(2092-2094)GAC>CAC	p.D698H	CPT1A_uc001oof.3_Missense_Mutation_p.D698H|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	698	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTCTCCAAGTCAAACAGCTCC	0.557		NaN											0	0	0	0.003163	0	16	16				
MRGPRD	116512	broad.mit.edu	37	11	68747724	68747724	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68747724G>A	uc010rqf.1	-	1	732	c.732C>T	c.(730-732)CTC>CTT	p.L244L		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	244	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAACCAGTAGAGCACAAACC	0.612		NaN											0	0	0	0.008361	0	32	40				
CCND1	595	broad.mit.edu	37	11	69458749	69458749	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:69458749C>T	uc001opa.2	+	3	773	c.564C>T	c.(562-564)CTC>CTT	p.L188L		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	188				L -> S (in Ref. 3; AAA52136).	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCGTTGCCCTCTGTGCCACAG	0.617		NaN	T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			0	0	0	0.00245	0	14	12				
C2CD3	26005	broad.mit.edu	37	11	73796738	73796738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:73796738C>T	uc001ouu.2	-	21	4062	c.3835G>A	c.(3835-3837)GAG>AAG	p.E1279K	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1279	C2 1.					centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AAACAGGCCTCTCCACTACAG	0.473		NaN											0	0	0	0.003163	0	16	34				
OR2AT4	341152	broad.mit.edu	37	11	74800029	74800029	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:74800029A>G	uc010rro.1	-	1	730	c.730T>C	c.(730-732)TCC>CCC	p.S244P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	244	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTGCAGGTGGAGAAGGCTTTT	0.567		NaN											0	0	0	0.004007	0	14	20				
C11orf30	56946	broad.mit.edu	37	11	76255317	76255317	+	Silent	SNP	C	C	T	rs146751469		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:76255317C>T	uc001oxl.2	+	19	2867	c.2724C>T	c.(2722-2724)CAC>CAT	p.H908H	C11orf30_uc001oxm.2_Silent_p.H810H|C11orf30_uc010rsb.1_Silent_p.H923H|C11orf30_uc010rsc.1_Silent_p.H909H|C11orf30_uc001oxn.2_Silent_p.H909H|C11orf30_uc010rsd.1_Silent_p.H817H|C11orf30_uc001oxo.1_Silent_p.H262H|C11orf30_uc010rse.1_Silent_p.H155H|C11orf30_uc001oxp.2_Silent_p.H8H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	908					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						TAAGCAGTCACACTGCTTTTA	0.403		NaN											0	0	0	0.00499	0	17	41				
AQP11	282679	broad.mit.edu	37	11	77301461	77301461	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301461G>A	uc001oyj.2	+	1	782	c.424G>A	c.(424-426)GGT>AGT	p.G142S	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	142						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTGGAGCTTGGGTCTGACCCA	0.602		NaN											0	0	0	0.008871	0	20	29				
AQP11	282679	broad.mit.edu	37	11	77301511	77301511	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301511C>T	uc001oyj.2	+	1	832	c.474C>T	c.(472-474)CCC>CCT	p.P158P	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	158						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCAAGAATCCCATCCGAGTCG	0.567		NaN											0	0	0	0.004656	0	28	49				
ODZ4	26011	broad.mit.edu	37	11	78399156	78399156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:78399156C>T	uc001ozl.3	-	29	5666	c.5203G>A	c.(5203-5205)GAT>AAT	p.D1735N	ODZ4_uc009yvb.1_Missense_Mutation_p.D319N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1735	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ATGGTGACATCATCCTTGCTG	0.562		NaN											0	0	0	0.00333	0	25	78				
C11orf82	220042	broad.mit.edu	37	11	82625788	82625788	+	Missense_Mutation	SNP	G	G	A	rs142883872	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82625788G>A	uc001ozt.2	+	3	252	c.8G>A	c.(7-9)AGA>AAA	p.R3K	C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.R3K	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	3					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						CACATGAACAGAAGACGAAAA	0.398		NaN											0	0	0	0.010729	0	10	52				
PCF11	51585	broad.mit.edu	37	11	82877677	82877677	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877677G>A	uc001ozx.3	+	5	2083	c.1738G>A	c.(1738-1740)GAA>AAA	p.E580K	PCF11_uc010rsu.1_Missense_Mutation_p.E580K	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	580					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GTCAGGCACTGAACCAAAGGA	0.388		NaN											0	0	0	0.006122	0	18	88				
PCF11	51585	broad.mit.edu	37	11	82877695	82877695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877695G>A	uc001ozx.3	+	5	2101	c.1756G>A	c.(1756-1758)GAA>AAA	p.E586K	PCF11_uc010rsu.1_Missense_Mutation_p.E586K	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	586					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GGAGAATGTAGAAAACTGGCA	0.393		NaN											0	0	0	0.01441	0	62	45				
CCDC89	220388	broad.mit.edu	37	11	85396454	85396454	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:85396454G>A	uc001pau.1	-	1	867	c.720C>T	c.(718-720)CAC>CAT	p.H240H		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	240	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTGCTGGTGCTGCTGCT	0.617		NaN											0	0	0	0.014323	0	19	107				
C11orf73	51501	broad.mit.edu	37	11	86048553	86048553	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:86048553C>T	uc001pbu.2	+	3	639	c.401C>T	c.(400-402)TCA>TTA	p.S134L	C11orf73_uc001pbt.2_Missense_Mutation_p.S134L|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S35L|C11orf73_uc001pbv.2_RNA	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	lethal, Chr 7, Rinchik 6	134						cytoplasm					0		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				GCTGTATCCTCAGTTGACTCA	0.338		NaN											0	0	0	0.01441	0	48	319				
HEPHL1	341208	broad.mit.edu	37	11	93796691	93796692	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93796691_93796692GG>AA	uc001pep.2	+	3	590_591	c.433_434GG>AA	c.(433-435)GGA>AAA	p.G145K		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	145	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATACCCAGATGGAACATCTGGA	0.322		NaN											0	0	0	0.004672	0	6	7				
HEPHL1	341208	broad.mit.edu	37	11	93808405	93808405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93808405G>A	uc001pep.2	+	9	1727	c.1570G>A	c.(1570-1572)GAG>AAG	p.E524K	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	524	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACAGTGCCTGAGAGCGTAAG	0.468		NaN											0	0	0	0.013537	0	12	21				
GPR83	10888	broad.mit.edu	37	11	94113882	94113882	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113882G>A	uc001pet.2	-	4	877	c.705C>T	c.(703-705)TTC>TTT	p.F235F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	235	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTACTTCCAGAAGAGGTCAG	0.587		NaN											0	0	0	0.000602	0	5	20				
GPR83	10888	broad.mit.edu	37	11	94113903	94113903	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113903G>T	uc001pet.2	-	4	856	c.684C>A	c.(682-684)TTC>TTA	p.F228L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	228	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGCTCAGGGAAGTCTGGCA	0.572		NaN											1	0	5.9392e-07	0.001168	6.10519e-07	5	24				
MMP12	4321	broad.mit.edu	37	11	102736603	102736603	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:102736603G>T	uc001phk.2	-	9	1154	c.1109C>A	c.(1108-1110)TCT>TAT	p.S370Y		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	370	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAAACCAAAAGAATGTATGCT	0.328		NaN											1	0	4.36969e-10	0.001855	4.54565e-10	13	24				
CASP1	834	broad.mit.edu	37	11	104899926	104899926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:104899926C>A	uc010rve.1	-	7	948	c.931G>T	c.(931-933)GAA>TAA	p.E311*	CASP1_uc001pig.2_Nonsense_Mutation_p.E218*|CASP1_uc001pik.2_Nonsense_Mutation_p.E274*|CASP1_uc010rvf.1_Nonsense_Mutation_p.E218*|CASP1_uc010rvg.1_Nonsense_Mutation_p.E290*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.E311*|CASP1_uc009yxi.2_Nonsense_Mutation_p.E290*|CASP1_uc010rvj.1_Nonsense_Mutation_p.E311*|CASP1_uc009yxj.2_Nonsense_Mutation_p.E156*|CASP1_uc010rvk.1_Nonsense_Mutation_p.E272*	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	311					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCAAACTCTTCTGTAGTTGGT	0.413		NaN											1	0	9.16793e-09	0.00499	9.49614e-09	16	40				
GUCY1A2	2977	broad.mit.edu	37	11	106680837	106680837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:106680837G>A	uc001pjg.1	-	5	1964	c.1574C>T	c.(1573-1575)TCA>TTA	p.S525L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.S546L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S525L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	525	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AACAATGTCTGAAAAGAGCAT	0.453		NaN											0	0	0	0.006122	0	18	41				
RAB39	54734	broad.mit.edu	37	11	107799300	107799300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107799300G>C	uc001pjt.2	+	1	24	c.6G>C	c.(4-6)GAG>GAC	p.E2D		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	2					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		GAGCGATGGAGACCATCTGGA	0.632		NaN											0	0	0	0.009096	0	4	5				
CUL5	8065	broad.mit.edu	37	11	107968457	107968457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107968457C>T	uc001pjv.2	+	17	2667	c.2000C>T	c.(1999-2001)TCA>TTA	p.S667L	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	667					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCCTCTTCTCAGTGAACCAG	0.348		NaN											0	0	0	0.00333	0	23	47				
PPP2R1B	5519	broad.mit.edu	37	11	111614220	111614220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111614220G>A	uc001plx.1	-	12	1518	c.1434C>T	c.(1432-1434)CTC>CTT	p.L478L	PPP2R1B_uc001plw.1_Silent_p.L478L|PPP2R1B_uc010rwi.1_Silent_p.L414L|PPP2R1B_uc010rwj.1_Silent_p.L317L|PPP2R1B_uc010rwk.1_Silent_p.L433L|PPP2R1B_uc010rwl.1_Silent_p.L351L	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	478	HEAT 12.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTAGTTTCATGAGGTTGTTGG	0.383		NaN											0	0	0	0.01441	0	49	83				
C11orf1	64776	broad.mit.edu	37	11	111753253	111753253	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111753253G>T	uc001pmd.2	+	2	544	c.207G>T	c.(205-207)CTG>CTT	p.L69L	C11orf1_uc001pme.2_Silent_p.L109L	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	hypothetical protein LOC64776	69						nucleus					0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACCGTACCCTGATGGGCAACT	0.438		NaN											1	0	4.3838e-07	0.001855	4.5106e-07	13	16				
CLDN25	644672	broad.mit.edu	37	11	113651192	113651192	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:113651192G>A	uc009yyw.1	+	1	675	c.675G>A	c.(673-675)AGG>AGA	p.R225R		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	225	Cytoplasmic (Potential).					integral to membrane|tight junction	structural molecule activity				0						TAAGACCTAGGAACCTGGTCA	0.498		NaN											0	0	0	0.010504	0	21	50				
MLL	4297	broad.mit.edu	37	11	118348840	118348840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118348840G>A	uc001pta.2	+	5	3516	c.3493G>A	c.(3493-3495)GAG>AAG	p.E1165K	MLL_uc001ptb.2_Missense_Mutation_p.E1165K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1165	CXXC-type.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCAGGTGCCTGAGGACTGTGG	0.498		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.01441	0	50	96		Valid		
BCL9L	283149	broad.mit.edu	37	11	118773239	118773239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118773239C>T	uc001pug.2	-	6	2178	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	BCL9L_uc009zal.2_Missense_Mutation_p.E400K	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	405	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCCGATGCTCCAGCTGCTCT	0.687		NaN											0	0	0	0.00308	0	6	19				
NLRX1	79671	broad.mit.edu	37	11	119044232	119044232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044232C>G	uc001pvu.2	+	5	489	c.274C>G	c.(274-276)CGG>GGG	p.R92G	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.R92G|NLRX1_uc001pvw.2_Missense_Mutation_p.R92G|NLRX1_uc001pvx.2_Missense_Mutation_p.R92G	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	92	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGTTCAGCCGGCTGCCCAG	0.587		NaN											0	0	0	0.004007	0	16	38				
NLRX1	79671	broad.mit.edu	37	11	119044292	119044292	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044292G>A	uc001pvu.2	+	5	549	c.334G>A	c.(334-336)GAC>AAC	p.D112N	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.D112N|NLRX1_uc001pvw.2_Missense_Mutation_p.D112N|NLRX1_uc001pvx.2_Missense_Mutation_p.D112N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	112	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGTCCACGTTGACCCTGTGAT	0.672		NaN											0	0	0	0.012319	0	22	30				
NLRX1	79671	broad.mit.edu	37	11	119050897	119050897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119050897G>A	uc001pvu.2	+	7	2382	c.2167G>A	c.(2167-2169)GGA>AGA	p.G723R	NLRX1_uc010rzc.1_Missense_Mutation_p.G545R|NLRX1_uc001pvv.2_Missense_Mutation_p.G723R|NLRX1_uc001pvw.2_Missense_Mutation_p.G723R|NLRX1_uc001pvx.2_Missense_Mutation_p.G723R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	723	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCAGCGGAAGGCATGC	0.637		NaN											0	0	0	0.00245	0	13	24				
MCAM	4162	broad.mit.edu	37	11	119181552	119181552	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119181552G>A	uc001pwf.2	-	14	1736	c.1707C>T	c.(1705-1707)ATC>ATT	p.I569I	MCAM_uc001pwg.1_RNA	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	569	Helical; (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGGACCAGGATGCACACAA	0.617		NaN											0	0	0	0.012319	0	20	45				
TECTA	7007	broad.mit.edu	37	11	120989420	120989420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:120989420G>C	uc010rzo.1	+	6	1196	c.1196G>C	c.(1195-1197)AGA>ACA	p.R399T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	399	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTATGGAAGAGTCAAGGTG	0.507		NaN											0	0	0	0.008871	0	21	42				
SC5DL	6309	broad.mit.edu	37	11	121174160	121174160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121174160G>C	uc001pxu.2	+	2	224	c.76G>C	c.(76-78)GAC>CAC	p.D26H	SC5DL_uc001pxs.1_Missense_Mutation_p.D26H|SC5DL_uc001pxt.2_Missense_Mutation_p.D26H|SC5DL_uc001pxv.2_Missense_Mutation_p.D26H	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	26					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GCCAGAAGATGACATCTTCCG	0.383		NaN											0	0	0	0.010818	0	30	56				
SORL1	6653	broad.mit.edu	37	11	121460047	121460047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121460047G>A	uc001pxx.2	+	29	4106	c.4026G>A	c.(4024-4026)TGG>TGA	p.W1342*	SORL1_uc010rzp.1_Nonsense_Mutation_p.W188*|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1342	Extracellular (Potential).|LDL-receptor class A 7.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTTGATTTGGAAGTGCGACG	0.478		NaN											0	0	0	0.01441	0	53	113				
DCPS	28960	broad.mit.edu	37	11	126215464	126215464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:126215464G>A	uc001qdp.2	+	6	1299	c.970G>A	c.(970-972)GAC>AAC	p.D324N	uc001qdq.1_Intron	NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	324					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CCTCAGGGCTGACGACCCCCT	0.607		NaN											0	0	0	0.013726	0	30	81				
KCNJ1	3758	broad.mit.edu	37	11	128709337	128709337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128709337G>A	uc001qeo.1	-	2	910	c.859C>T	c.(859-861)CTC>TTC	p.L287F	KCNJ1_uc001qep.1_Missense_Mutation_p.L268F|KCNJ1_uc001qeq.1_Missense_Mutation_p.L268F|KCNJ1_uc001qer.1_Missense_Mutation_p.L268F|KCNJ1_uc001qes.1_Missense_Mutation_p.L268F	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	287	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TCCTGCTGGAGAAGGGTCTCC	0.483		NaN											0	0	0	0.01441	0	53	49				
ARHGAP32	9743	broad.mit.edu	37	11	128936684	128936684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128936684C>T	uc009zcp.2	-	6	569	c.569G>A	c.(568-570)CGA>CAA	p.R190Q	ARHGAP32_uc009zcq.1_Missense_Mutation_p.R150Q|ARHGAP32_uc001qfb.2_5'UTR	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	190	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GGAAAATCTTCGGTCATAAAT	0.368		NaN											0	0	0	0.007413	0	20	28				
ADAMTS8	11095	broad.mit.edu	37	11	130278816	130278816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130278816C>G	uc001qgg.3	-	7	2128	c.1770G>C	c.(1768-1770)CAG>CAC	p.Q590H	ADAMTS8_uc001qgf.2_Missense_Mutation_p.Q71H	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	590	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTCACACTGCTGCTCCCTGA	0.547		NaN											0	0	0	0.005443	0	27	85				
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130785628G>A	uc001qgk.3	-	1	755	c.207C>T	c.(205-207)CTC>CTT	p.L69L	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602		NaN											0	0	0	0.004007	0	14	30				
JAM3	83700	broad.mit.edu	37	11	134014688	134014688	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134014688G>A	uc001qhb.1	+	5	570	c.546G>A	c.(544-546)GTG>GTA	p.V182V	JAM3_uc009zcz.1_Silent_p.V131V	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	137	Extracellular (Potential).				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCCCACAGTGAAGCCAGTGA	0.537		NaN											0	0	0	0.008871	0	19	48				
GLB1L2	89944	broad.mit.edu	37	11	134214971	134214971	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134214971C>A	uc001qhp.2	+	4	585	c.397C>A	c.(397-399)CTG>ATG	p.L133M	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	133					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGGGTGATTCTGCGTCCAGG	0.637		NaN											1	0	0.00909568	0.009096	0.00921888	4	10				
B4GALNT3	283358	broad.mit.edu	37	12	662717	662717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:662717A>G	uc001qii.1	+	14	1628	c.1628A>G	c.(1627-1629)CAG>CGG	p.Q543R	B4GALNT3_uc001qij.1_Missense_Mutation_p.Q446R|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q92R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	543	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AACCTGCCTCAGATGAGGGGG	0.617		NaN											0	0	0	0.012319	0	23	13				
FOXM1	2305	broad.mit.edu	37	12	2968485	2968485	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:2968485C>T	uc001qlf.2	-	9	1876	c.1611G>A	c.(1609-1611)GAG>GAA	p.E537E	uc001qld.2_Intron|FOXM1_uc001qle.2_Silent_p.E575E|FOXM1_uc001qlg.2_Silent_p.E522E|FOXM1_uc009zea.2_Silent_p.E522E|FOXM1_uc009zeb.2_Silent_p.E521E	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	537					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCTCCCTCCTCTCCCTGTGTT	0.577		NaN											0	0	0	0.012213	0	30	49				
ANO2	57101	broad.mit.edu	37	12	5936945	5936945	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:5936945G>C	uc001qnm.2	-	7	942	c.870C>G	c.(868-870)AAC>AAG	p.N290K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	295	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						CCATCGTGTTGTTGGCTCGGG	0.657		NaN											0	0	0	0.009096	0	3	4				
SCNN1A	6337	broad.mit.edu	37	12	6457910	6457910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6457910C>T	uc001qnx.2	-	12	1901	c.1612G>A	c.(1612-1614)GAG>AAG	p.E538K	SCNN1A_uc001qnv.2_Missense_Mutation_p.E238K|SCNN1A_uc001qnw.2_Missense_Mutation_p.E597K|SCNN1A_uc010sfb.1_Missense_Mutation_p.E561K	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	538	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	GAGGGAGACTCAGAATTGGTT	0.522		NaN											0	0	0	0.00278	0	25	42				
CD4	920	broad.mit.edu	37	12	6926360	6926360	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6926360G>T	uc001qqv.1	+	7	1265	c.1020G>T	c.(1018-1020)CTG>CTT	p.L340L	CD4_uc010sfj.1_Silent_p.L67L|CD4_uc009zfc.1_Silent_p.L161L|CD4_uc010sfk.1_Silent_p.L67L|CD4_uc010sfl.1_Silent_p.L67L|CD4_uc010sfm.1_Silent_p.L67L	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	340	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				AGCTGATGCTGAGTTTGAAAC	0.567		NaN											1	0	1.12685e-05	0.004482	1.1518e-05	9	18				
PHB2	11331	broad.mit.edu	37	12	7078670	7078670	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:7078670C>A	uc001qsd.2	-	3	493	c.283G>T	c.(283-285)GGC>TGC	p.G95C	PHB2_uc010sft.1_Missense_Mutation_p.G95C|PHB2_uc010sfu.1_Missense_Mutation_p.G95C|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	95					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CCTTTGGAGCCTGTAGGGGAG	0.507		NaN											1	0	1.9806e-07	0.014323	2.04176e-07	19	48				
A2ML1	144568	broad.mit.edu	37	12	8988871	8988871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:8988871G>A	uc001quz.3	+	7	762	c.664G>A	c.(664-666)GAA>AAA	p.E222K		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	66						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GTTTAAGGTGGAAGTGGTGGA	0.448		NaN											0	0	0	0.010729	0	10	30				
CDKN1B	1027	broad.mit.edu	37	12	12871770	12871770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:12871770C>T	uc001rat.2	+	2	959	c.487C>T	c.(487-489)CAA>TAA	p.Q163*		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	163	Nuclear localization signal (Potential).				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTCTTCTACTCAAAACAAAAG	0.448		NaN							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				0	0	0	0.01441	0	72	33				
SLCO1C1	53919	broad.mit.edu	37	12	20864431	20864431	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:20864431C>A	uc001rej.3	+	6	871	c.516C>A	c.(514-516)TCC>TCA	p.S172S	SLCO1C1_uc010sii.1_Silent_p.S172S|SLCO1C1_uc010sij.1_Silent_p.S172S|SLCO1C1_uc009zip.2_Silent_p.S6S|SLCO1C1_uc001rei.2_Silent_p.S172S|SLCO1C1_uc010sik.1_Silent_p.S54S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	172	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					AATCAAAATCCAAAATAAGTA	0.343		NaN											1	0	2.32416e-17	0.014323	2.45064e-17	23	39				
BHLHE41	79365	broad.mit.edu	37	12	26277470	26277470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26277470C>T	uc001rhb.2	-	2	399	c.108G>A	c.(106-108)ATG>ATA	p.M36I		NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix domain containing, class	36					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CGTCTCGTTTCATGCTCCTTT	0.478		NaN											0	0	0	0.003755	0	35	19				
ITPR2	3709	broad.mit.edu	37	12	26943129	26943129	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26943129C>T	uc001rhg.2	-	2	541	c.124G>A	c.(124-126)GAG>AAG	p.E42K	ITPR2_uc001rhh.1_Intron|ITPR2_uc001rhi.1_Missense_Mutation_p.E42K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	42	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCCCCGGCCTCTGGGTGCACC	0.408		NaN											0	0	0	0.00245	0	13	34				
DDX11	1663	broad.mit.edu	37	12	31240903	31240903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:31240903G>A	uc001rjt.1	+	6	921	c.670G>A	c.(670-672)GAA>AAA	p.E224K	DDX11_uc010sjw.1_Missense_Mutation_p.E224K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E224K|DDX11_uc001rjs.1_Missense_Mutation_p.E224K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E224K|DDX11_uc001rjw.1_Missense_Mutation_p.E198K|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	224	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGGAGGAAGAACACATAAC	0.532		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.000602	0	5	11				
SYT10	341359	broad.mit.edu	37	12	33592424	33592424	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:33592424G>A	uc001rll.1	-	1	331	c.34C>T	c.(34-36)CTG>TTG	p.L12L	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	12	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCTGGCACAGACTGTTCACT	0.552		NaN											0	0	0	0.01441	0	44	100				
ABCD2	225	broad.mit.edu	37	12	39947845	39947845	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:39947845C>T	uc001rmb.2	-	10	2518	c.2092G>A	c.(2092-2094)GAA>AAA	p.E698K		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	698	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TGTTTTTCTTCACTCAATGTC	0.383		NaN											0	0	0	0.009535	0	32	15				
LRRK2	120892	broad.mit.edu	37	12	40749951	40749951	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:40749951G>A	uc001rmg.3	+	46	6926	c.6805G>A	c.(6805-6807)GAT>AAT	p.D2269N	LRRK2_uc009zjw.2_Missense_Mutation_p.D1107N|LRRK2_uc001rmi.2_Missense_Mutation_p.D1102N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2269					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGAACCGCTGATGGCAAGTT	0.224		NaN											0	0	0	0.001984	0	7	14				
ANO6	196527	broad.mit.edu	37	12	45781986	45781986	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:45781986T>C	uc001roo.2	+	11	1543	c.1208T>C	c.(1207-1209)CTT>CCT	p.L403P	ANO6_uc010sld.1_Missense_Mutation_p.L403P|ANO6_uc010sle.1_Missense_Mutation_p.L403P|ANO6_uc010slf.1_Missense_Mutation_p.L424P|ANO6_uc010slg.1_Missense_Mutation_p.L385P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	403	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						CAGGCAGAACTTGAGTATGAA	0.423		NaN											0	0	0	0.01441	0	76	135				
SLC38A1	81539	broad.mit.edu	37	12	46582754	46582754	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:46582754C>T	uc001rpa.2	-	17	1721	c.1463G>A	c.(1462-1464)TGA>TAA	p.*488*	SLC38A1_uc001rpb.2_Silent_p.*488*|SLC38A1_uc001rpc.2_Silent_p.*488*|SLC38A1_uc001rpd.2_Silent_p.*488*|SLC38A1_uc001rpe.2_Silent_p.*488*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	488					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CGGCGGGTTTCAGTGGCCTTC	0.507		NaN											0	0	0	0.008871	0	17	65				
DDN	23109	broad.mit.edu	37	12	49391911	49391911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49391911G>A	uc001rsv.1	-	2	766	c.748C>T	c.(748-750)CAG>TAG	p.Q250*	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	250						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						GTGGGCACCTGAGAGTTCCCG	0.657		NaN											0	0	0	0.001855	0	14	69				
MLL2	8085	broad.mit.edu	37	12	49434778	49434778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49434778C>T	uc001rta.3	-	31	6775	c.6775G>A	c.(6775-6777)GAG>AAG	p.E2259K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2259	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCAGGGCTCTCAGGCACAGCC	0.632		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.008871	0	16	34		Valid		
MLL2	8085	broad.mit.edu	37	12	49445264	49445264	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49445264G>C	uc001rta.3	-	10	2202	c.2202C>G	c.(2200-2202)CTC>CTG	p.L734L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	734	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCGGGGGCAGAGTTGCGGCT	0.692		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.008291	0	4	23				
PRPH	5630	broad.mit.edu	37	12	49689233	49689233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49689233G>A	uc001rtu.2	+	1	325	c.250G>A	c.(250-252)GAG>AAG	p.E84K		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	84	Head.						structural molecule activity				0						CTCCATGGCCGAGGCCCTCAA	0.682		NaN											0	0	0	0.001168	0	6	7				
PRPF40B	25766	broad.mit.edu	37	12	50036100	50036100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50036100G>A	uc001rur.1	+	19	1965	c.1901G>A	c.(1900-1902)CGA>CAA	p.R634Q	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R656Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.R621Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R577Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	634					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						GCTGCCTTTCGAAGCATGCTG	0.642		NaN											0	0	0	0.01441	0	45	55				
PRPF40B	25766	broad.mit.edu	37	12	50037941	50037941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50037941G>A	uc001rur.1	+	25	2646	c.2582G>A	c.(2581-2583)CGG>CAG	p.R861Q	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.R848Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R803Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	861					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						AGGCGGCGGCGGACACTCCTA	0.597		NaN									OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	4	29				
DIP2B	57609	broad.mit.edu	37	12	51130885	51130885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51130885C>G	uc001rwv.2	+	35	4324	c.4168C>G	c.(4168-4170)CTT>GTT	p.L1390V	DIP2B_uc009zlt.2_Missense_Mutation_p.L820V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1390						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AGACTCTCACCTTGGAGAGGT	0.358		NaN											0	0	0	0.00623	0	37	143				
LETMD1	25875	broad.mit.edu	37	12	51450271	51450271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51450271C>T	uc001rxm.2	+	7	957	c.901C>T	c.(901-903)CAG>TAG	p.Q301*	LETMD1_uc010smz.1_Nonsense_Mutation_p.Q251*|LETMD1_uc010sna.1_Missense_Mutation_p.S138L|LETMD1_uc001rxl.2_Nonsense_Mutation_p.Q245*|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.S138L|LETMD1_uc009zlw.2_Nonsense_Mutation_p.Q314*|LETMD1_uc001rxn.2_Nonsense_Mutation_p.Q144*|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Nonsense_Mutation_p.Q184*|LETMD1_uc001rxq.2_Nonsense_Mutation_p.Q177*|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Nonsense_Mutation_p.Q41*	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	301	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						GCTGACTGCTCAGGAAGTAAA	0.507		NaN											0	0	0	0.007291	0	29	81				
POU6F1	5463	broad.mit.edu	37	12	51584140	51584140	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51584140C>T	uc001rxy.2	-	5	988	c.796G>A	c.(796-798)GAA>AAA	p.E266K	POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	266	Homeobox.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTAGCAATTTCAGTGATCTCC	0.547		NaN											0	0	0	0.013726	0	35	134				
KRT75	9119	broad.mit.edu	37	12	52827960	52827960	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:52827960C>G	uc001saj.2	-	1	151	c.129G>C	c.(127-129)GGG>GGC	p.G43G		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGCCCCCACTCCCTGCTGCAG	0.672		NaN											0	0	0	0.004482	0	6	48				
KRT3	3850	broad.mit.edu	37	12	53185189	53185189	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53185189T>C	uc001say.2	-	7	1402	c.1336A>G	c.(1336-1338)ATT>GTT	p.I446V		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	446	Rod.|Coil 2.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GCCTCGGCAATGGCCGTCTGC	0.592		NaN											0	0	0	0.003755	0	32	42				
CSAD	51380	broad.mit.edu	37	12	53565116	53565116	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53565116C>G	uc001sby.2	-	7	687	c.561G>C	c.(559-561)TCG>TCC	p.S187S	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Silent_p.S214S|CSAD_uc001sbz.2_Silent_p.S187S|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCACCTCCTTCGATGTGAATA	0.587		NaN							Hereditary_Prostate_Cancer				0	0	0	0.004878	0	35	59				
RARG	5916	broad.mit.edu	37	12	53607344	53607344	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53607344G>A	uc001sce.2	-	8	1439	c.954C>T	c.(952-954)CTC>CTT	p.L318L	RARG_uc001scd.2_Silent_p.L307L|RARG_uc010sob.1_Silent_p.L296L|RARG_uc001scf.2_Silent_p.L318L|RARG_uc001scg.2_Silent_p.L246L|RARG_uc010soc.1_Silent_p.L197L|RARG_uc010sod.1_Silent_p.L355L	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	318	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGGGGCAGGAGCTGCCCAG	0.652		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	24	27				
RARG	5916	broad.mit.edu	37	12	53609125	53609125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53609125G>A	uc001sce.2	-	5	912	c.427C>T	c.(427-429)CAG>TAG	p.Q143*	RARG_uc001scd.2_Nonsense_Mutation_p.Q132*|RARG_uc010sob.1_Nonsense_Mutation_p.Q121*|RARG_uc001scf.2_Nonsense_Mutation_p.Q143*|RARG_uc001scg.2_Nonsense_Mutation_p.Q71*|RARG_uc010soc.1_Nonsense_Mutation_p.Q22*|RARG_uc010sod.1_Nonsense_Mutation_p.Q180*	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	143	NR C4-type.|Nuclear receptor.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGCAGTACTGGCAGCGATTC	0.547		NaN											0	0	0	0.004289	0	32	81				
SP1	6667	broad.mit.edu	37	12	53776403	53776403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53776403C>T	uc001scw.2	+	3	769	c.672C>T	c.(670-672)ATC>ATT	p.I224I	SP1_uc010sog.1_Silent_p.I217I	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	224	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GAGGCAACATCATTGCTGCTA	0.502		NaN											0	0	0	0.01441	0	52	84				
HOXC5	3222	broad.mit.edu	37	12	54427115	54427115	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:54427115A>C	uc001sew.2	+	1	284	c.209A>C	c.(208-210)CAC>CCC	p.H70P	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	70					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCCCGGGCTCACCCCGACCGC	0.672		NaN											0	0	0	0.010729	0	7	16				
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:55846762C>T	uc001sgz.1	+	1	765	c.765C>T	c.(763-765)TTC>TTT	p.F255F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GCTGCATCTTCATCTATATCA	0.423		NaN											0	0	0	0.009535	0	32	167				
SUOX	6821	broad.mit.edu	37	12	56397731	56397731	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56397731G>C	uc001six.2	+	6	884	c.558G>C	c.(556-558)CTG>CTC	p.L186L	SUOX_uc001siy.2_Silent_p.L186L|SUOX_uc001siz.2_Silent_p.L186L|SUOX_uc001sja.2_Silent_p.L186L	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	186	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACCCAGCCCTGAAGGTCAACA	0.547		NaN											0	0	0	0.003954	0	25	24				
ESYT1	23344	broad.mit.edu	37	12	56531079	56531079	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56531079G>A	uc001sjq.2	+	17	1910	c.1860G>A	c.(1858-1860)GAG>GAA	p.E620E	ESYT1_uc001sjr.2_Silent_p.E630E	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	620						integral to membrane				ovary(4)|skin(1)	5						TGGACAGTGAGAATCCCCAGA	0.532		NaN											0	0	0	0.00623	0	34	59				
ANKRD52	283373	broad.mit.edu	37	12	56651667	56651667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56651667C>T	uc001skm.3	-	2	146	c.56G>A	c.(55-57)CGA>CAA	p.R19Q	ANKRD52_uc001skn.1_5'Flank	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	19	ANK 1.						protein binding			ovary(2)	2						CTCCACATCTCGGCTAAAGAT	0.637		NaN											0	0	0	0.013537	0	13	23				
PAN2	9924	broad.mit.edu	37	12	56716974	56716974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56716974C>T	uc001skx.2	-	17	2750	c.2377G>A	c.(2377-2379)GAG>AAG	p.E793K	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.E792K|PAN2_uc001sky.2_Missense_Mutation_p.E789K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	793					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGCACACCCTCTGGACTCCCT	0.463		NaN											0	0	0	0.01441	0	100	150				
PAN2	9924	broad.mit.edu	37	12	56720504	56720504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720504C>T	uc001skx.2	-	7	1532	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D387N|PAN2_uc001sky.2_Missense_Mutation_p.D387N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	387					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TGGCTCCAGTCCAGAGGAGGC	0.587		NaN											0	0	0	0.00308	0	7	64				
PAN2	9924	broad.mit.edu	37	12	56720612	56720612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720612C>T	uc001skx.2	-	7	1424	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.E351K|PAN2_uc001sky.2_Missense_Mutation_p.E351K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	351					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						ACACAGCCCTCAGAATCCCCA	0.562		NaN											0	0	0	0.007291	0	28	115				
PAN2	9924	broad.mit.edu	37	12	56722297	56722297	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56722297G>A	uc001skx.2	-	3	784	c.411C>T	c.(409-411)CTC>CTT	p.L137L	PAN2_uc001skz.2_Silent_p.L137L|PAN2_uc001sky.2_Silent_p.L137L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	137					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CCATATACTTGAGGTTGTTCT	0.488		NaN											0	0	0	0.01441	0	54	120				
NACA	4666	broad.mit.edu	37	12	57108199	57108199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57108199C>T	uc001slz.2	-	4	530	c.181G>A	c.(181-183)GAA>AAA	p.E61K	NACA_uc001sly.2_Missense_Mutation_p.E61K|NACA_uc009zoy.1_Missense_Mutation_p.E1924K|NACA_uc001smc.2_Missense_Mutation_p.E61K|NACA_uc001sma.2_Missense_Mutation_p.E771K|NACA_uc001smb.2_Missense_Mutation_p.E61K|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	61					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						ACTGGTTCTTCATCAATTTCA	0.398		NaN	T	BCL6	NHL								0	0	0	0.010504	0	22	78				
SDR9C7	121214	broad.mit.edu	37	12	57328012	57328012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57328012G>A	uc010sqw.1	-	1	34	c.34C>T	c.(34-36)CGC>TGC	p.R12C		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	12						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						TTGAACCAGCGATACATAAAT	0.547		NaN											0	0	0	0.006214	0	10	52				
STAT6	6778	broad.mit.edu	37	12	57493598	57493598	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57493598A>T	uc009zpe.2	-	15	1947	c.1696T>A	c.(1696-1698)TCA>ACA	p.S566T	STAT6_uc009zpf.2_Missense_Mutation_p.S566T|STAT6_uc001sna.2_Missense_Mutation_p.S566T|STAT6_uc010srb.1_Missense_Mutation_p.S456T|STAT6_uc010src.1_Missense_Mutation_p.S456T|STAT6_uc010srd.1_Missense_Mutation_p.S456T|STAT6_uc009zpg.2_Missense_Mutation_p.S615T	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	566	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						CCAATCTCTGAGTCGCTGAAG	0.582		NaN											0	0	0	0.001855	0	11	23				
INHBE	83729	broad.mit.edu	37	12	57850047	57850047	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57850047C>T	uc001snw.2	+	2	693	c.469C>T	c.(469-471)CTC>TTC	p.L157F		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	157					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						GTCCCGCACTCTCCTGGCTGA	0.602		NaN									OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	102	177				
GLI1	2735	broad.mit.edu	37	12	57858641	57858641	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57858641G>A	uc001snx.2	+	4	457	c.379G>A	c.(379-381)GGC>AGC	p.G127S	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	127					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTCTCCATTGGCACCATGAG	0.557		NaN											0	0	0	0.003163	0	15	57				
DCTN2	10540	broad.mit.edu	37	12	57926780	57926780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57926780C>T	uc001som.1	-	9	893	c.761G>A	c.(760-762)GGA>GAA	p.G254E	DCTN2_uc009zpu.1_Missense_Mutation_p.G259E|DCTN2_uc009zpv.1_Missense_Mutation_p.G167E|DCTN2_uc009zpw.1_Missense_Mutation_p.G167E|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Missense_Mutation_p.G167E|DCTN2_uc001sop.1_Missense_Mutation_p.G167E|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.G254E	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	dynactin 2	254					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			ovary(1)	1						GAGACAGGCTCCCTGTAGACC	0.458		NaN											0	0	0	0.00308	0	8	17				
PIP4K2C	79837	broad.mit.edu	37	12	57994197	57994197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57994197G>C	uc001sou.2	+	7	921	c.790G>C	c.(790-792)GAG>CAG	p.E264Q	PIP4K2C_uc001sot.2_Missense_Mutation_p.E264Q|PIP4K2C_uc010srs.1_Missense_Mutation_p.E246Q|PIP4K2C_uc010srt.1_Missense_Mutation_p.E216Q	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	264	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					AATATTTCTGGAGAAGCTGAA	0.403		NaN											0	0	0	0.013537	0	13	46				
AGAP2	116986	broad.mit.edu	37	12	58127921	58127921	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58127921G>A	uc001spq.2	-	5	1437	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F	AGAP2_uc001spp.2_Silent_p.F479F|AGAP2_uc001spr.2_Silent_p.F143F	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	479	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						CCTCCAGGCTGAAGACGAAGA	0.587		NaN											0	0	0	0.010504	0	20	19				
MARCH9	92979	broad.mit.edu	37	12	58152013	58152013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58152013G>T	uc001spx.1	+	3	1048	c.636G>T	c.(634-636)AAG>AAT	p.K212N	MARCH9_uc001spy.2_Missense_Mutation_p.K99N	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	membrane-associated RING-CH protein IX	212						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding				0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCAGCCAAGTGGCAACGAC	0.542		NaN											1	0	1.96895e-08	0.00278	2.03555e-08	23	62				
MON2	23041	broad.mit.edu	37	12	62861092	62861092	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:62861092C>T	uc001sre.2	+	1	496	c.105C>T	c.(103-105)GTC>GTT	p.V35V	MON2_uc009zqj.2_Silent_p.V35V|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Silent_p.V35V|MON2_uc010ssn.1_Silent_p.V35V|MON2_uc001srd.1_Silent_p.V35V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	35					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCCCACCTGTCAAAGAGGTAA	0.542		NaN											0	0	0	0.008871	0	20	70				
LEMD3	23592	broad.mit.edu	37	12	65564632	65564632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:65564632C>T	uc001ssl.1	+	1	1262	c.1256C>T	c.(1255-1257)TCT>TTT	p.S419F	LEMD3_uc009zqo.1_Missense_Mutation_p.S419F	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	419					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGGCCGCCTCTAGTTCACTC	0.502		NaN											0	0	0	0.010504	0	20	65				
KCNMB4	27345	broad.mit.edu	37	12	70760748	70760748	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:70760748C>T	uc001svx.2	+	1	687	c.234C>T	c.(232-234)GGC>GGT	p.G78G		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	78	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACTGCAGGGGCACCTCGCAGT	0.627		NaN											0	0	0	0.014323	0	23	78				
OSBPL8	114882	broad.mit.edu	37	12	76788453	76788453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:76788453C>T	uc001sye.1	-	9	1209	c.729G>A	c.(727-729)TTG>TTA	p.L243L	OSBPL8_uc001syf.1_Silent_p.L201L|OSBPL8_uc001syg.1_Silent_p.L201L|OSBPL8_uc001syh.1_Silent_p.L218L	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	243	PH.				lipid transport		lipid binding			ovary(1)	1						CTCGGATGATCAAATAACTGC	0.323		NaN											0	0	0	0.003271	0	31	39				
NAV3	89795	broad.mit.edu	37	12	78513043	78513043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513043G>C	uc001syp.2	+	15	3240	c.3067G>C	c.(3067-3069)GAG>CAG	p.E1023Q	NAV3_uc001syo.2_Missense_Mutation_p.E1023Q|NAV3_uc010sub.1_Missense_Mutation_p.E523Q|NAV3_uc009zsf.2_Missense_Mutation_p.E31Q	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1023						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAAAGCTTCTGAGAAAGGAAA	0.418		NaN								HNSCC(70;0.22)			0	0	0	0.010771	0	42	211				
NAV3	89795	broad.mit.edu	37	12	78513245	78513245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513245C>T	uc001syp.2	+	15	3442	c.3269C>T	c.(3268-3270)TCT>TTT	p.S1090F	NAV3_uc001syo.2_Missense_Mutation_p.S1090F|NAV3_uc010sub.1_Missense_Mutation_p.S590F|NAV3_uc009zsf.2_Missense_Mutation_p.S98F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1090	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACAAGTGGCTCTGCAACACTG	0.483		NaN								HNSCC(70;0.22)			0	0	0	0.004007	0	13	62				
ACSS3	79611	broad.mit.edu	37	12	81536974	81536974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:81536974C>T	uc001szl.1	+	5	960	c.869C>T	c.(868-870)TCA>TTA	p.S290L	ACSS3_uc001szm.1_Missense_Mutation_p.S289L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	290						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCTGTTCTTTCAGAACACCCA	0.453		NaN											0	0	0	0.01441	0	97	20				
KERA	11081	broad.mit.edu	37	12	91445283	91445283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:91445283G>A	uc001tbl.2	-	3	1518	c.899C>T	c.(898-900)TCT>TTT	p.S300F		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	300	LRR 10.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						ACATATTACAGAGACATTCAC	0.428		NaN											0	0	0	0.009535	0	31	39				
UBE2N	7334	broad.mit.edu	37	12	93804976	93804976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:93804976C>T	uc001tcp.2	-	2	496	c.130G>A	c.(130-132)GAT>AAT	p.D44N		NM_003348	NP_003339	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	44					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity				0						AAGGGGGAATCCTGAGGGCCA	0.478		NaN						Direct_reversal_of_damage|Rad6_pathway					0	0	0	0.01441	0	51	92				
CCDC38	120935	broad.mit.edu	37	12	96284667	96284667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96284667C>G	uc001tek.1	-	9	1048	c.814G>C	c.(814-816)GAG>CAG	p.E272Q		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	272										skin(1)	1						CTCCCGGACTCCTCAAGGATG	0.443		NaN											0	0	0	0.00632	0	27	45				
HAL	3034	broad.mit.edu	37	12	96382019	96382019	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96382019C>T	uc001tem.1	-	11	1153	c.856_splice	c.e11-1	p.V286_splice	HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site_p.V78_splice|HAL_uc010sux.1_Splice_Site_p.V286_splice	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	CTTCTAGCACCTATAGAATGA	0.308		NaN											0	0	0	0.01441	0	105	156				
C12orf63	374467	broad.mit.edu	37	12	97051853	97051853	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:97051853C>T	uc001tet.1	+	4	647	c.569C>T	c.(568-570)TCT>TTT	p.S190F		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	190										skin(6)|ovary(1)	7						ACACTAGTATCTCTTGCCATT	0.313		NaN											0	0	0	0.012213	0	31	115				
UHRF1BP1L	23074	broad.mit.edu	37	12	100489579	100489579	+	Missense_Mutation	SNP	G	G	C	rs12824229		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:100489579G>C	uc001tgq.2	-	7	935	c.706C>G	c.(706-708)CTA>GTA	p.L236V	UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.L236V|UHRF1BP1L_uc001tgp.2_5'Flank	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	236										ovary(2)	2						TCCAATATTAGAACTAACTTT	0.303		NaN											0	0	0	0.006122	0	18	53				
SLC5A8	160728	broad.mit.edu	37	12	101584349	101584349	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:101584349T>C	uc001thz.3	-	6	1120	c.730A>G	c.(730-732)ACA>GCA	p.T244A		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	244	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						ATAATAATTGTCCAGAAGGTG	0.373		NaN											0	0	0	0.00632	0	30	96				
CHPT1	56994	broad.mit.edu	37	12	102091702	102091702	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:102091702G>A	uc001tin.2	+	1	286	c.63G>A	c.(61-63)CTG>CTA	p.L21L	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.L21L	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	21					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						GCGAGCCGCTGAGCGCGGCGC	0.791		NaN											0	0	0	0.009096	0	4	1				
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:109526080G>A	uc001tnx.2	-	4	1110	c.717C>T	c.(715-717)CCC>CCT	p.P239P	ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	239	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483		NaN						Direct_reversal_of_damage					0	0	0	0.01441	0	49	193				
RAD9B	144715	broad.mit.edu	37	12	110956540	110956540	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:110956540C>G	uc001trf.3	+	7	793	c.655C>G	c.(655-657)CAA>GAA	p.Q219E	RAD9B_uc001trg.3_Missense_Mutation_p.Q219E|RAD9B_uc010sya.1_Missense_Mutation_p.Q150E|RAD9B_uc001tre.3_Missense_Mutation_p.Q147E|RAD9B_uc001trd.3_Missense_Mutation_p.Q61E	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B	216					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						TGACTTCTTTCAAATTGGAAT	0.279		NaN											0	0	0	0.010771	0	42	57				
CCDC63	160762	broad.mit.edu	37	12	111290763	111290763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:111290763C>T	uc001trv.1	+	2	200	c.5C>T	c.(4-6)TCT>TTT	p.S2F	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Intron|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	2										skin(6)|ovary(1)|pancreas(1)	8						TTCAAGATGTCTGTGGTAGGT	0.313		NaN											0	0	0	0.004656	0	27	32				
DTX1	1840	broad.mit.edu	37	12	113531504	113531504	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113531504G>C	uc001tuk.1	+	4	1500	c.1164G>C	c.(1162-1164)AAG>AAC	p.K388N		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	388					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						ACCTTAAAAAGAGTACGCCCT	0.582		NaN											0	0	0	0.013537	0	11	17				
DTX1	1840	broad.mit.edu	37	12	113532921	113532921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113532921G>A	uc001tuk.1	+	7	1797	c.1461G>A	c.(1459-1461)ATG>ATA	p.M487I		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	487					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CTGGGAAGATGGAGTTCCACC	0.642		NaN											0	0	0	0.010504	0	21	33				
SLC24A6	80024	broad.mit.edu	37	12	113737681	113737681	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113737681G>A	uc001tvc.2	-	16	1866	c.1656C>T	c.(1654-1656)CTC>CTT	p.L552L	SLC24A6_uc001tuz.2_Silent_p.L257L|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.L290L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	552	Extracellular (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						AGACTCTGCTGAGCTGGAAGC	0.577		NaN											0	0	0	0.010818	0	25	37				
TBX3	6926	broad.mit.edu	37	12	115120680	115120680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:115120680G>A	uc001tvt.1	-	1	1290	c.326C>T	c.(325-327)GCT>GTT	p.A109V	TBX3_uc001tvu.1_Missense_Mutation_p.A109V|TBX3_uc010syw.1_Missense_Mutation_p.A109V	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	109	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGTTCTTTAGCCTCCAGGTG	0.592		NaN											0	0	0	0.013726	0	31	49				
MED13L	23389	broad.mit.edu	37	12	116418744	116418744	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:116418744C>G	uc001tvw.2	-	23	5231	c.5176_splice	c.e23-1	p.I1726_splice		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGCACAATCTAAAGACACA	0.378		NaN											0	0	0	0.007413	0	20	45				
VSIG10	54621	broad.mit.edu	37	12	118511775	118511775	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:118511775C>T	uc001tws.2	-	5	1282	c.948G>A	c.(946-948)GAG>GAA	p.E316E		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	316	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0						TCTTCATGGGCTCAGAGAGAA	0.527		NaN											0	0	0	0.00499	0	17	23				
CCDC60	160777	broad.mit.edu	37	12	119954484	119954484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:119954484G>A	uc001txe.2	+	8	1405	c.940G>A	c.(940-942)GAA>AAA	p.E314K	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	314										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCACAATAGAAAATGGGAT	0.433		NaN											0	0	0	0.004007	0	16	58				
COX6A1	1337	broad.mit.edu	37	12	120876184	120876184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120876184C>G	uc001tyf.1	+	2	132	c.106C>G	c.(106-108)CGC>GGC	p.R36G		NM_004373	NP_004364	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	36					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCGCAGCTCGCATGTGGAA	0.637		NaN											0	0	0	0.008291	0	8	21				
SFRS9	8683	broad.mit.edu	37	12	120903591	120903591	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120903591C>G	uc001tyi.2	-	2	335	c.189_splice	c.e2-1	p.R63_splice	SFRS9_uc009zwy.2_Intron	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTGCATCTCTAAAAAAAAC	0.453		NaN											0	0	0	0.012319	0	20	42				
RNF10	9921	broad.mit.edu	37	12	120995412	120995412	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120995412G>A	uc001typ.3	+	6	1377	c.894G>A	c.(892-894)AAG>AAA	p.K298K	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.K204K	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	298					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGATGAAGAGGGAGAAAG	0.448		NaN											0	0	0	0.004878	0	37	190				
P2RX7	5027	broad.mit.edu	37	12	121615003	121615003	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:121615003C>T	uc001tzm.2	+	10	1122	c.1026C>T	c.(1024-1026)TCC>TCT	p.S342S	P2RX7_uc001tzn.2_Silent_p.S252S|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Silent_p.S53S|P2RX7_uc001tzq.2_Silent_p.S172S	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	342						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCCTCTCCTACTTCGGTC	0.468		NaN											0	0	0	0.01441	0	57	76				
CLIP1	6249	broad.mit.edu	37	12	122817644	122817644	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:122817644C>G	uc001ucg.1	-	14	2863	c.2757G>C	c.(2755-2757)CTG>CTC	p.L919L	CLIP1_uc001uch.1_Silent_p.L908L|CLIP1_uc001uci.1_Silent_p.L873L|CLIP1_uc001ucj.1_Silent_p.L494L	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	919	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCCTTTATCAGCTGCTCTT	0.343		NaN											0	0	0	0.00499	0	18	36				
KNTC1	9735	broad.mit.edu	37	12	123089504	123089504	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123089504C>G	uc001ucv.2	+	50	5419	c.5256C>G	c.(5254-5256)CTC>CTG	p.L1752L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1752					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAGCTGTGCTCATAGCCCACA	0.438		NaN											0	0	0	0.008291	0	10	13				
GPR81	27198	broad.mit.edu	37	12	123214722	123214722	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123214722G>A	uc001ucz.2	-	1	408	c.165C>T	c.(163-165)TTC>TTT	p.F55F	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	55	Helical; Name=2; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N56fs*6(1)			0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGGCCAAATTGAAAAGGTAAA	0.527		NaN											0	0	0	0.004007	0	16	11				
SETD8	387893	broad.mit.edu	37	12	123868753	123868753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123868753G>A	uc001uew.2	+	1	50	c.8G>A	c.(7-9)AGA>AAA	p.R3K	SETD8_uc001uex.2_5'UTR	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GCCATGGCTAGAGGTATTTGC	0.662		NaN											0	0	0	0.000602	0	5	12				
DDX55	57696	broad.mit.edu	37	12	124104609	124104609	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124104609G>T	uc001ufi.2	+	14	1749	c.1725G>T	c.(1723-1725)GAG>GAT	p.E575D	DDX55_uc001ufk.2_Missense_Mutation_p.E428D|DDX55_uc001ufl.2_Missense_Mutation_p.E182D	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	575							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGAATTTGAGAAGGGCTTGT	0.393		NaN											1	0	1.40151e-16	0.010504	1.47563e-16	21	90				
NCOR2	9612	broad.mit.edu	37	12	124979754	124979754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124979754G>A	uc010tba.1	-	1	161	c.44C>T	c.(43-45)ACT>ATT	p.T15I	NCOR2_uc010tay.1_Missense_Mutation_p.T15I|NCOR2_uc010taz.1_Missense_Mutation_p.T15I|NCOR2_uc010tbb.1_Missense_Mutation_p.T15I|NCOR2_uc010tbc.1_Missense_Mutation_p.T15I|NCOR2_uc001ugj.1_Missense_Mutation_p.T15I|NCOR2_uc001ugk.1_Missense_Mutation_p.T15I	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	15					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCTCAGTGGCCCTCCA	0.642		NaN											0	0	0	0.00308	0	7	34		Valid		
UBC	7316	broad.mit.edu	37	12	125398075	125398075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:125398075C>T	uc001ugs.3	-	2	691	c.243G>A	c.(241-243)GTG>GTA	p.V81V	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V81V|UBC_uc001ugt.2_Silent_p.V81V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Intron	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	81	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGTGTCTTCACGAAGATTT	0.542		NaN											0	0	0	0.01441	0	110	169				
MMP17	4326	broad.mit.edu	37	12	132322757	132322757	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132322757C>T	uc001ujc.1	+	2	276	c.177C>T	c.(175-177)TTC>TTT	p.F59F	MMP17_uc001ujd.1_5'UTR	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	59					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TAAGCAGGTTCGGTTACCTGC	0.642		NaN											0	0	0	0.010504	0	18	19				
ULK1	8408	broad.mit.edu	37	12	132380364	132380364	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132380364T>C	uc001uje.2	+	3	509	c.241T>C	c.(241-243)TTC>CTC	p.F81L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	81	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTGTACGACTTCCAGGTAAG	0.617		NaN											0	0	0	0.004482	0	7	57				
POLE	5426	broad.mit.edu	37	12	133226443	133226443	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133226443C>T	uc001uks.1	-	30	3659	c.3615G>A	c.(3613-3615)CCG>CCA	p.P1205P	POLE_uc001ukr.1_Silent_p.P9P|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.P1178P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1205					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTTGGCCTCGGACTGTCTT	0.493		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.008291	0	11	34				
PGAM5	192111	broad.mit.edu	37	12	133294683	133294683	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133294683C>T	uc009zyv.2	+	5	723	c.696C>T	c.(694-696)AAC>AAT	p.N232N	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Silent_p.N232N	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	232						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GTCACGCCAACGTCATCCGCT	0.562		NaN											0	0	0	0.008291	0	10	53				
MPHOSPH8	54737	broad.mit.edu	37	13	20208066	20208066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20208066G>C	uc001umh.2	+	1	187	c.178G>C	c.(178-180)GAG>CAG	p.E60Q	MPHOSPH8_uc001umf.1_Missense_Mutation_p.E60Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E60Q	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	60	Chromo.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGATGTGTTCGAGGTGGAGAA	0.657		NaN											0	0	0	0.004672	0	3	5				
ZMYM5	9205	broad.mit.edu	37	13	20425496	20425496	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20425496A>G	uc010tcn.1	-	4	850	c.585T>C	c.(583-585)CCT>CCC	p.P195P	ZMYM5_uc001umm.1_Silent_p.P19P|ZMYM5_uc001umn.2_Silent_p.P195P|ZMYM5_uc001umo.2_Silent_p.P195P	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	195						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTGCTTACCAGGACTATGAT	0.383		NaN											0	0	0	0.007413	0	20	78				
XPO4	64328	broad.mit.edu	37	13	21371070	21371070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21371070C>T	uc001unq.3	-	17	2485	c.2449G>A	c.(2449-2451)GAG>AAG	p.E817K		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	817					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGGTAGCCTCAGCAATGCCA	0.428		NaN											0	0	0	0.007413	0	18	68				
MRP63	78988	broad.mit.edu	37	13	21751241	21751241	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21751241C>T	uc001unw.2	+	2	676	c.186C>T	c.(184-186)CAC>CAT	p.H62H	SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	62											0		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		AGCGCGGCCACGCCGCGGTGC	0.642		NaN											0	0	0	0.001168	0	5	25				
UBL3	5412	broad.mit.edu	37	13	30341760	30341760	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:30341760G>C	uc001usp.2	-	4	1441	c.296C>G	c.(295-297)TCT>TGT	p.S99C		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	99						intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CTTACCTTGAGAGTTTGGCTC	0.408		NaN											0	0	0	0.004878	0	36	39				
USPL1	10208	broad.mit.edu	37	13	31211905	31211905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:31211905C>T	uc001utc.2	+	5	1325	c.893C>T	c.(892-894)TCA>TTA	p.S298L	USPL1_uc001utb.2_Missense_Mutation_p.S117L|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	298					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAACTTACCTCAGAAATATTT	0.348		NaN											0	0	0	0.009535	0	33	85				
N4BP2L2	10443	broad.mit.edu	37	13	33018001	33018001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:33018001T>C	uc010abe.1	-	7	695	c.673A>G	c.(673-675)AAA>GAA	p.K225E	N4BP2L2_uc001uug.2_Missense_Mutation_p.K108E|N4BP2L2_uc010abd.1_Missense_Mutation_p.K138E|N4BP2L2_uc001uuh.2_Missense_Mutation_p.K56E|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K210E	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCCATCTTTTTTCTTTATAT	0.343		NaN											0	0	0	0.009096	0	4	8				
DCLK1	9201	broad.mit.edu	37	13	36686315	36686315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36686315C>G	uc001uvf.2	-	3	647	c.414G>C	c.(412-414)AAG>AAC	p.K138N		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	138	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACTCCAGTTTCTTGAAGGGCT	0.428		NaN											0	0	0	0.005443	0	26	54				
SPG20	23111	broad.mit.edu	37	13	36909157	36909157	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36909157C>G	uc001uvn.2	-	3	1080	c.810_splice	c.e3+1	p.Q270_splice	SPG20_uc010ten.1_Intron|SPG20_uc001uvm.2_Splice_Site_p.Q270_splice|SPG20_uc001uvo.2_Splice_Site_p.Q270_splice|SPG20_uc001uvq.2_Splice_Site_p.Q270_splice|SPG20_uc001uvp.2_Splice_Site_p.Q270_splice	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin						cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTCGCTTACCTGAAGAAAC	0.378		NaN											0	0	0	0.009718	0	39	65				
TSC22D1	8848	broad.mit.edu	37	13	45147906	45147906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45147906G>A	uc001uzn.3	-	1	2796	c.2305C>T	c.(2305-2307)CAA>TAA	p.Q769*	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	769	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATCCCAGTTTGAGCAGGTGGA	0.493		NaN											0	0	0	0.006122	0	19	62				
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45149590C>T	uc001uzn.3	-	1	1112	c.621G>A	c.(619-621)CAG>CAA	p.Q207Q	TSC22D1_uc001uzo.1_Silent_p.Q207Q	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	207	His-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.353		NaN											0	0	0	0.014323	0	22	19				
KCTD4	386618	broad.mit.edu	37	13	45768414	45768414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45768414C>T	uc001uzx.3	-	2	693	c.289G>A	c.(289-291)GAA>AAA	p.E97K	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	97	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		AATAGAAGTTCTCCATTTCGT	0.443		NaN											0	0	0	0.01441	0	86	127				
LCP1	3936	broad.mit.edu	37	13	46701847	46701847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:46701847G>C	uc001vaz.3	-	16	1889	c.1763C>G	c.(1762-1764)TCT>TGT	p.S588C	LCP1_uc010ack.2_Missense_Mutation_p.S157C|LCP1_uc001vay.3_Missense_Mutation_p.S185C|LCP1_uc001vba.3_Missense_Mutation_p.S588C	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	588	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGGCCATAGAGATGGCATA	0.493		NaN	T	BCL6	NHL 								0	0	0	0.01441	0	59	36				
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:48985612G>A	uc010acu.2	-	1	2042	c.948C>T	c.(946-948)TTC>TTT	p.F316F	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	316	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GAACTTCAGAGAATCTGAAGT	0.338		NaN											0	0	0	0.011902	0	46	61				
RCBTB2	1102	broad.mit.edu	37	13	49085972	49085972	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:49085972G>A	uc001vch.2	-	9	1088	c.717C>T	c.(715-717)CTC>CTT	p.L239L	RCBTB2_uc010tgg.1_Silent_p.L244L|RCBTB2_uc001vci.2_Silent_p.L215L|RCBTB2_uc010tgh.1_Missense_Mutation_p.S13L|RCBTB2_uc001vcj.2_Silent_p.L243L|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Silent_p.L215L	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	239	RCC1 4.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACTGTTGCCGAGTCCAAGCT	0.527		NaN											0	0	0	0.013537	0	12	31				
ATP7B	540	broad.mit.edu	37	13	52548420	52548420	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:52548420C>T	uc001vfw.2	-	2	1093	c.936G>A	c.(934-936)CAG>CAA	p.Q312Q	ATP7B_uc010adv.2_Silent_p.Q312Q|ATP7B_uc001vfx.2_Silent_p.Q312Q|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Silent_p.Q312Q|ATP7B_uc010tgu.1_Silent_p.Q312Q|ATP7B_uc010tgv.1_Silent_p.Q312Q|ATP7B_uc010tgw.1_Silent_p.Q280Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	312	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGATAGCCCTCTGCAGAGCCA	0.502		NaN							Wilson_disease				0	0	0	0.008361	0	29	65				
OLFM4	10562	broad.mit.edu	37	13	53624514	53624514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:53624514C>G	uc001vhl.2	+	5	1141	c.1141C>G	c.(1141-1143)CAA>GAA	p.Q381E	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	381	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGTTGCTTGGCAAGATATTGA	0.413		NaN											0	0	0	0.01441	0	57	149				
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:58208221C>T	uc001vhq.1	+	1	2433	c.1541C>T	c.(1540-1542)TCG>TTG	p.S514L	PCDH17_uc010aec.1_Missense_Mutation_p.S514L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	514	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592		NaN											0	0	0	0.00333	0	23	19				
PCDH20	64881	broad.mit.edu	37	13	61985735	61985735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:61985735G>A	uc001vid.3	-	2	2861	c.2497C>T	c.(2497-2499)CTC>TTC	p.L833F	PCDH20_uc010thj.1_Missense_Mutation_p.L833F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	806	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAGTGGAGAGGCTCGGGA	0.413		NaN											0	0	0	0.010818	0	33	50				
DACH1	1602	broad.mit.edu	37	13	72134058	72134058	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:72134058G>T	uc010thn.1	-	6	1752	c.1329C>A	c.(1327-1329)GCC>GCA	p.A443A	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	495					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCAGAGAGGGGGCAGGTGAGG	0.542		NaN											1	0	0.00116845	0.001168	0.00118816	5	13				
KCTD12	115207	broad.mit.edu	37	13	77459558	77459558	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77459558C>T	uc010aeu.1	-	1	983	c.726G>A	c.(724-726)ACG>ACA	p.T242T	KCTD12_uc001vka.1_Silent_p.T242T	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	potassium channel tetramerisation domain	242						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(1)	1		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGGCCAGCGACGTCTTTCCGC	0.647		NaN									OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	8	2				
MYCBP2	23077	broad.mit.edu	37	13	77651516	77651516	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77651516G>A	uc001vkf.2	-	68	11468	c.11377C>T	c.(11377-11379)CTG>TTG	p.L3793L	MYCBP2_uc010aev.2_Silent_p.L3197L|MYCBP2_uc001vke.2_Silent_p.L413L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3793	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGAATCCAGATCAACCTGG	0.423		NaN											0	0	0	0.010504	0	21	25				
GPC6	10082	broad.mit.edu	37	13	93879803	93879803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:93879803G>A	uc001vlt.2	+	1	726	c.94G>A	c.(94-96)GAG>AAG	p.E32K	GPC6_uc010tig.1_Missense_Mutation_p.E32K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	32						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGCTGCGGAGAGGTCCGCCA	0.672		NaN									OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	8	15				
ATP11A	23250	broad.mit.edu	37	13	113508799	113508799	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113508799C>T	uc001vsi.3	+	19	2286	c.2198C>T	c.(2197-2199)ACG>ATG	p.T733M	ATP11A_uc001vsj.3_Missense_Mutation_p.T733M|ATP11A_uc001vsm.1_Missense_Mutation_p.T609M|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	733	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGCAAGACGGTCCTGCGC	0.657		NaN											0	0	0	0.001855	0	13	11				
LAMP1	3916	broad.mit.edu	37	13	113976673	113976673	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113976673C>T	uc001vtm.1	+	9	1472	c.1191C>T	c.(1189-1191)CTC>CTT	p.L397L	LAMP1_uc010tka.1_Silent_p.L344L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	397	Helical; (Potential).					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCTGGTCCTCATCGTCCTCA	0.627		NaN											0	0	0	0.013726	0	30	15				
CCNB1IP1	57820	broad.mit.edu	37	14	20781943	20781943	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20781943G>C	uc001vwv.2	-	6	964	c.315C>G	c.(313-315)CTC>CTG	p.L105L	CCNB1IP1_uc001vww.2_Silent_p.L105L|CCNB1IP1_uc001vwx.2_Silent_p.L105L|CCNB1IP1_uc001vwy.2_Silent_p.L105L|CCNB1IP1_uc001vwz.2_Silent_p.L105L	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	105						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ATTCTTGATAGAGACGTTCCT	0.338		NaN	T	HMGA2	leiomyoma								0	0	0	0.010729	0	11	37				
OSGEP	55644	broad.mit.edu	37	14	20916914	20916914	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20916914G>A	uc001vxf.2	-	6	970	c.614C>T	c.(613-615)TCA>TTA	p.S205L		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	205					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CAGGATCCCTGAGAATGAGAC	0.438		NaN											0	0	0	0.007413	0	16	42				
FLJ10357	55701	broad.mit.edu	37	14	21549964	21549964	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21549964G>T	uc001vzp.2	+	14	2966	c.2937G>T	c.(2935-2937)CAG>CAT	p.Q979H	FLJ10357_uc001vzo.1_Missense_Mutation_p.Q58H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q265H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	979					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GAGGGGCCCAGTGGGGGCCCC	0.711		NaN											1	0	0.000602214	0.000602	0.000613236	5	1				
HNRNPC	3183	broad.mit.edu	37	14	21699232	21699232	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21699232C>T	uc001vzy.2	-	4	486	c.242_splice	c.e4-1	p.D81_splice	HNRNPC_uc001vzw.2_Splice_Site_p.D81_splice|HNRNPC_uc001wad.2_Intron|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Splice_Site_p.D81_splice|HNRNPC_uc001waa.2_Splice_Site_p.D81_splice|HNRNPC_uc010ail.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlq.1_Splice_Site|HNRNPC_uc001wab.2_Splice_Site_p.D81_splice|HNRNPC_uc001wac.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlr.1_5'Flank|HNRNPC_uc001waf.2_Splice_Site_p.D81_splice|HNRNPC_uc001wae.2_Splice_Site_p.D81_splice	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C							catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGGTTAATATCTGAAAAACAA	0.338		NaN											0	0	0	0.007413	0	19	39				
CHD8	57680	broad.mit.edu	37	14	21862166	21862166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21862166C>T	uc001was.1	-	32	5045	c.4951G>A	c.(4951-4953)GAT>AAT	p.D1651N	CHD8_uc001war.1_Missense_Mutation_p.D1547N|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1930					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTCCCCATCATGCCGAACA	0.552		NaN											0	0	0	0.001855	0	14	20				
METTL3	56339	broad.mit.edu	37	14	21967731	21967731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21967731C>T	uc001wbc.2	-	8	1449	c.1357G>A	c.(1357-1359)GAT>AAT	p.D453N	METTL3_uc001wbb.2_Missense_Mutation_p.D298N	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	453					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATAATTTCATCTACCCGTTCA	0.423		NaN											0	0	0	0.008361	0	31	76				
MYH7	4625	broad.mit.edu	37	14	23887435	23887435	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:23887435C>T	uc001wjx.2	-	30	4259	c.4153G>A	c.(4153-4155)GAG>AAG	p.E1385K	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1385	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCGAGCTCCTCAGTCCGC	0.637		NaN											0	0	0	0.006122	0	18	46				
AP1G2	8906	broad.mit.edu	37	14	24036487	24036487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24036487C>T	uc001wkl.2	-	2	374	c.37G>A	c.(37-39)GAA>AAA	p.E13K	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_5'UTR|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.E13K|AP1G2_uc010aks.2_5'UTR|AP1G2_uc010akt.2_5'UTR|AP1G2_uc010tnq.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	13					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAATCTCTTCGATGAGGTCC	0.637		NaN									OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	5	14				
LRRC16B	90668	broad.mit.edu	37	14	24528595	24528595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24528595G>A	uc001wlj.2	+	21	1900	c.1743G>A	c.(1741-1743)ATG>ATA	p.M581I	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	581										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GCAATGGCATGGAGGACATCG	0.642		NaN											0	0	0	0.00308	0	7	10				
LRRC16B	90668	broad.mit.edu	37	14	24532014	24532014	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24532014G>A	uc001wlj.2	+	29	2822	c.2665G>A	c.(2665-2667)GAC>AAC	p.D889N	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	889										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCGGAACCATGACCATGAGGA	0.627		NaN											0	0	0	0.004482	0	7	39				
RNF31	55072	broad.mit.edu	37	14	24617580	24617580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24617580G>A	uc001wmn.1	+	3	702	c.453G>A	c.(451-453)CTG>CTA	p.L151L	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	151	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		CAGTCACACTGGAAGTACTGC	0.557		NaN											0	0	0	0.004007	0	14	16				
REC8	9985	broad.mit.edu	37	14	24641766	24641766	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24641766T>A	uc001wmr.2	+	2	432	c.5T>A	c.(4-6)TTC>TAC	p.F2Y	REC8_uc001wms.2_Missense_Mutation_p.F2Y	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	2					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		GGGACAATGTTCTACTATCCC	0.592		NaN											0	0	0	0.010729	0	9	7				
IPO4	79711	broad.mit.edu	37	14	24656644	24656644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656644G>C	uc001wmv.1	-	6	681	c.550C>G	c.(550-552)CTG>GTG	p.L184V	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.L48V|IPO4_uc001wmy.1_Missense_Mutation_p.L48V|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.L184V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	184					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		ATGGTGGTCAGAGTGCGCAGG	0.577		NaN											0	0	0	0.006122	0	16	64				
IPO4	79711	broad.mit.edu	37	14	24656660	24656660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656660G>C	uc001wmv.1	-	6	665	c.534C>G	c.(532-534)TTC>TTG	p.F178L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.F42L|IPO4_uc001wmy.1_Missense_Mutation_p.F42L|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.F178L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	178					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		GCAGGGAGTAGAAGAGCAGCC	0.592		NaN											0	0	0	0.004007	0	16	64				
IPO4	79711	broad.mit.edu	37	14	24656970	24656970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656970G>T	uc001wmv.1	-	5	442	c.311C>A	c.(310-312)TCA>TAA	p.S104*	IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Nonsense_Mutation_p.S104*	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	104					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		AATGGTGGCTGAGAGCTGGGC	0.572		NaN											1	0	3.27435e-08	0.00245	3.38028e-08	14	27				
TGM1	7051	broad.mit.edu	37	14	24731453	24731453	+	Missense_Mutation	SNP	G	G	A	rs145197904	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24731453G>A	uc001wod.2	-	2	230	c.106C>T	c.(106-108)CGC>TGC	p.R36C	TGM1_uc010tog.1_5'UTR	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	36	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCTCCTCTGCGAGAGCGTCCG	0.647		NaN											0	0	0	0.008291	0	9	32				
C14orf21	161424	broad.mit.edu	37	14	24772312	24772312	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24772312C>T	uc001wol.1	+	6	1239	c.1176C>T	c.(1174-1176)GTC>GTT	p.V392V	C14orf21_uc001wom.1_5'UTR	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	392							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		TGAGCCCTGTCTTGGAAGCTG	0.478		NaN											0	0	0	0.012319	0	21	51				
NYNRIN	57523	broad.mit.edu	37	14	24883866	24883866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24883866G>A	uc001wpf.3	+	9	3229	c.2911G>A	c.(2911-2913)GTC>ATC	p.V971I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	971					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CTCAGCCAGTGTCACTGAGCT	0.557		NaN											0	0	0	0.013537	0	9	16				
NYNRIN	57523	broad.mit.edu	37	14	24884334	24884334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24884334G>A	uc001wpf.3	+	9	3697	c.3379G>A	c.(3379-3381)GAC>AAC	p.D1127N		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1127					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GCAGAAGCCTGACTGGCAGTG	0.622		NaN											0	0	0	0.010729	0	12	14				
NOVA1	4857	broad.mit.edu	37	14	27064680	27064680	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:27064680A>G	uc001wpy.2	-	2	534	c.216T>C	c.(214-216)ATT>ATC	p.I72I	NOVA1_uc001wpz.2_Silent_p.I72I|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Silent_p.I72I	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	72	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		GCAACTGAACAATTGTCTGTC	0.403		NaN											0	0	0	0.012319	0	22	103				
HECTD1	25831	broad.mit.edu	37	14	31602842	31602842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:31602842C>G	uc001wrc.1	-	23	4107	c.3618G>C	c.(3616-3618)GAG>GAC	p.E1206D	HECTD1_uc001wrd.1_Missense_Mutation_p.E721D	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCCTTGTTTCTCATCCTTTG	0.363		NaN											0	0	0	0.00245	0	15	51				
FOXA1	3169	broad.mit.edu	37	14	38060825	38060825	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:38060825C>T	uc001wuf.2	-	2	1476	c.1164G>A	c.(1162-1164)CTG>CTA	p.L388L	FOXA1_uc010tpz.1_Silent_p.L355L	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	388					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGTCCCCTTTCAGGTGCAGCT	0.637		NaN											0	0	0	0.004672	0	3	9				
LRFN5	145581	broad.mit.edu	37	14	42356993	42356993	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:42356993G>C	uc001wvm.2	+	3	2363	c.1165G>C	c.(1165-1167)GAG>CAG	p.E389Q	LRFN5_uc010ana.2_Missense_Mutation_p.E389Q	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	389	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATATCCATGAGCCTGATCC	0.378		NaN								HNSCC(30;0.082)			0	0	0	0.008871	0	21	53				
FAM179B	23116	broad.mit.edu	37	14	45468596	45468596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45468596C>G	uc001wvv.2	+	3	2443	c.2234C>G	c.(2233-2235)TCT>TGT	p.S745C	FAM179B_uc001wvw.2_Missense_Mutation_p.S745C|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.S745C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	745							binding			skin(2)|upper_aerodigestive_tract(1)	3						ACAAATCTTTCTGGGAAATGT	0.353		NaN											0	0	0	0.00245	0	13	102				
FANCM	57697	broad.mit.edu	37	14	45605471	45605471	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45605471G>A	uc001wwd.3	+	1	336	c.237G>A	c.(235-237)GCG>GCA	p.A79A	FANCM_uc001wwc.2_Silent_p.A79A|FANCM_uc010anf.2_Silent_p.A79A|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	79					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GCACCTCCGCGGGCGCCCTGT	0.597		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.006214	0	9	37				
KLHDC2	23588	broad.mit.edu	37	14	50238388	50238388	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:50238388G>A	uc001wwx.2	+	2	630	c.230G>A	c.(229-231)AGA>AAA	p.R77K	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R77K|KLHDC2_uc010anp.2_Missense_Mutation_p.R77K	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	77	Kelch 1.					nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGACTGGAAGATGGTAAATG	0.229		NaN											0	0	0	0.006122	0	19	54				
TXNDC16	57544	broad.mit.edu	37	14	52936858	52936858	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:52936858C>T	uc001wzs.2	-	16	1964	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	TXNDC16_uc010tqu.1_Silent_p.S500S|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	505					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289		NaN											0	0	0	0.013537	0	13	83				
DLGAP5	9787	broad.mit.edu	37	14	55642735	55642735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:55642735C>T	uc001xbs.2	-	9	1268	c.1051G>A	c.(1051-1053)GAT>AAT	p.D351N	DLGAP5_uc001xbt.2_Missense_Mutation_p.D351N	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	351					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						TGAGACTCATCACTAAAAACA	0.313		NaN											0	0	0	0.006122	0	19	60				
SLC35F4	341880	broad.mit.edu	37	14	58047974	58047974	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:58047974C>A	uc001xdb.1	-	4	873	c.873G>T	c.(871-873)TTG>TTT	p.L291F	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.L132F	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TCCATGACAGCAAGAAGACAA	0.443		NaN											1	0	0.000274275	0.004482	0.000279426	8	20				
MNAT1	4331	broad.mit.edu	37	14	61285476	61285476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:61285476C>T	uc001xfd.2	+	6	709	c.598C>T	c.(598-600)CAG>TAG	p.Q200*	MNAT1_uc001xfe.2_Intron	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	200				Missing (in Ref. 3; AAB05248).	cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GCTTTTGGCTCAGCATAAAGA	0.368		NaN						Direct_reversal_of_damage|NER					0	0	0	0.010504	0	21	66				
SYNE2	23224	broad.mit.edu	37	14	64608747	64608747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64608747G>A	uc001xgm.2	+	82	15477	c.15247G>A	c.(15247-15249)GAC>AAC	p.D5083N	SYNE2_uc001xgl.2_Missense_Mutation_p.D5083N|SYNE2_uc010apy.2_Missense_Mutation_p.D1468N|SYNE2_uc001xgn.2_Missense_Mutation_p.D45N|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5083	Spectrin 2.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGATGAAGACTCCGTGCA	0.383		NaN											0	0	0	0.010729	0	12	41				
SYNE2	23224	broad.mit.edu	37	14	64680937	64680937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64680937C>T	uc001xgm.2	+	106	19312	c.19082C>T	c.(19081-19083)TCT>TTT	p.S6361F	SYNE2_uc001xgl.2_Missense_Mutation_p.S6361F|SYNE2_uc010apy.2_Missense_Mutation_p.S2746F|SYNE2_uc001xgn.2_Missense_Mutation_p.S1323F|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S331F|SYNE2_uc001xgq.2_Missense_Mutation_p.S726F|SYNE2_uc001xgr.2_Missense_Mutation_p.S144F|SYNE2_uc010tsi.1_5'UTR|SYNE2_uc001xgs.2_5'UTR|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6361	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGAGGCCTCTGAGAATGAA	0.468		NaN											0	0	0	0.013114	0	48	51				
SYNE2	23224	broad.mit.edu	37	14	64685228	64685228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64685228C>T	uc001xgm.2	+	108	19816	c.19586C>T	c.(19585-19587)TCA>TTA	p.S6529L	SYNE2_uc001xgl.2_Missense_Mutation_p.S6552L|SYNE2_uc010apy.2_Missense_Mutation_p.S2914L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1491L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S499L|SYNE2_uc001xgq.2_Missense_Mutation_p.S894L|SYNE2_uc001xgr.2_Missense_Mutation_p.S312L|SYNE2_uc010tsi.1_Missense_Mutation_p.S186L|SYNE2_uc001xgs.2_Missense_Mutation_p.S186L|SYNE2_uc001xgt.2_Missense_Mutation_p.S60L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6529	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCAGCAGTCAGGTACTGCC	0.512		NaN											0	0	0	0.000602	0	5	19				
MTHFD1	4522	broad.mit.edu	37	14	64909033	64909033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64909033C>G	uc001xhb.2	+	21	2436	c.2049C>G	c.(2047-2049)ATC>ATG	p.I683M	MTHFD1_uc010aqf.2_Missense_Mutation_p.I739M	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	683	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTTTTAACATCAAATGCCGGT	0.527		NaN											0	0	0	0.010771	0	45	74				
ZBTB1	22890	broad.mit.edu	37	14	64989728	64989728	+	Missense_Mutation	SNP	T	T	G	rs142978553	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64989728T>G	uc001xhh.3	+	4	1937	c.1506T>G	c.(1504-1506)GAT>GAG	p.D502E	ZBTB1_uc010aqg.2_Missense_Mutation_p.D502E|ZBTB1_uc001xhi.2_Missense_Mutation_p.D502E	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AAATAAGAGATATGTTTGTTG	0.398		NaN											0	0	0	0.004289	0	38	97				
ZBTB1	22890	broad.mit.edu	37	14	64990098	64990098	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64990098G>C	uc001xhh.3	+	4	2307	c.1876G>C	c.(1876-1878)GAT>CAT	p.D626H	ZBTB1_uc010aqg.2_Missense_Mutation_p.D626H|ZBTB1_uc001xhi.2_Missense_Mutation_p.D626H	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	626	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACTGCACAATGATATGCACAA	0.388		NaN											0	0	0	0.01441	0	48	54				
HSPA2	3306	broad.mit.edu	37	14	65009223	65009223	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:65009223C>T	uc001xhj.2	+	2	1732	c.1656C>T	c.(1654-1656)ATC>ATT	p.I552I	HSPA2_uc001xhk.3_Silent_p.I552I	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	552					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCTACAACATCAAGCAGACGG	0.552		NaN											0	0	0	0.00333	0	25	51				
ARG2	384	broad.mit.edu	37	14	68114822	68114822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:68114822C>T	uc001xjs.2	+	7	897	c.781C>T	c.(781-783)CCA>TCA	p.P261S		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	261					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TACACTGGCTCCAGCCACAGG	0.388		NaN											0	0	0	0.00245	0	14	37				
PCNX	22990	broad.mit.edu	37	14	71575342	71575342	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:71575342C>T	uc001xmo.2	+	34	6769	c.6323C>T	c.(6322-6324)TCT>TTT	p.S2108F	PCNX_uc010are.1_Missense_Mutation_p.S1997F|PCNX_uc010arf.1_Missense_Mutation_p.S896F|PCNX_uc001xmp.2_Missense_Mutation_p.S192F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2108	Ser-rich.					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCTCTCACTCTGTGCAGTCG	0.532		NaN											0	0	0	0.012319	0	21	30				
SIPA1L1	26037	broad.mit.edu	37	14	72196839	72196839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:72196839G>A	uc001xms.2	+	18	5093	c.4745G>A	c.(4744-4746)AGA>AAA	p.R1582K	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1582K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R1036K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R347K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1582					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTGCACAGAACACTGTCG	0.547		NaN											0	0	0	0.010504	0	19	44				
RBM25	58517	broad.mit.edu	37	14	73577788	73577788	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:73577788A>T	uc001xno.2	+	15	2150	c.1942A>T	c.(1942-1944)ATT>TTT	p.I648F	RBM25_uc010ttu.1_Missense_Mutation_p.I648F|RBM25_uc001xnp.2_Missense_Mutation_p.I443F	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	648					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTATTATTATTCCTCATGA	0.468		NaN											0	0	0	0.013537	0	11	42				
TTLL5	23093	broad.mit.edu	37	14	76238194	76238194	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:76238194G>C	uc001xrx.2	+	21	2338	c.2133G>C	c.(2131-2133)CAG>CAC	p.Q711H	TTLL5_uc010ask.1_Missense_Mutation_p.Q725H|TTLL5_uc001xrz.2_Missense_Mutation_p.Q286H|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	711					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGATGAACAGATGGTAAGGC	0.328		NaN											0	0	0	0.005524	0	37	53				
ZC3H14	79882	broad.mit.edu	37	14	89039256	89039256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:89039256G>C	uc001xww.2	+	6	991	c.766G>C	c.(766-768)GAA>CAA	p.E256Q	ZC3H14_uc010twd.1_Missense_Mutation_p.E256Q|ZC3H14_uc010twe.1_Missense_Mutation_p.E256Q|ZC3H14_uc001xwx.2_Missense_Mutation_p.E256Q|ZC3H14_uc010twf.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xwy.2_Missense_Mutation_p.E222Q|ZC3H14_uc010twg.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xxa.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	256						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTGGGTATATGAAACAGGACG	0.408		NaN											0	0	0	0.004289	0	39	102				
TTC7B	145567	broad.mit.edu	37	14	91196427	91196427	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91196427G>A	uc001xyp.2	-	5	812	c.690C>T	c.(688-690)TTC>TTT	p.F230F		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	230	TPR 2.						binding			ovary(2)	2		Melanoma(154;0.222)				ACCCATTTTTGAAATAGAGGA	0.388		NaN											0	0	0	0.01441	0	51	127				
CCDC88C	440193	broad.mit.edu	37	14	91791126	91791126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791126C>T	uc010aty.2	-	12	1438	c.1339G>A	c.(1339-1341)GAC>AAC	p.D447N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	447					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TACCTACCGTCTGACAAGTCT	0.602		NaN											0	0	0	0.004482	0	9	20				
CCDC88C	440193	broad.mit.edu	37	14	91791156	91791156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791156C>G	uc010aty.2	-	12	1408	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	437					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GACAGCTGCTCCAGCTCCCAG	0.587		NaN											0	0	0	0.013537	0	11	36				
CATSPERB	79820	broad.mit.edu	37	14	92084066	92084066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:92084066C>T	uc001xzs.1	-	20	2415	c.2275G>A	c.(2275-2277)GAA>AAA	p.E759K	CATSPERB_uc010aub.1_Missense_Mutation_p.E281K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	759					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTGGTATTTCAAGCATTCGA	0.313		NaN											0	0	0	0.009535	0	28	33				
OTUB2	78990	broad.mit.edu	37	14	94512231	94512231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:94512231C>T	uc001yci.2	+	6	828	c.668C>T	c.(667-669)TCC>TTC	p.S223F		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	223	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TATAAAACATCCCACTACAAC	0.498		NaN											0	0	0	0.004482	0	8	19				
VRK1	7443	broad.mit.edu	37	14	97313665	97313665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:97313665G>A	uc001yft.2	+	5	464	c.358G>A	c.(358-360)GAC>AAC	p.D120N		NM_003384	NP_003375	Q99986	VRK1_HUMAN	vaccinia related kinase 1	120	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|stomach(1)	2		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGGTCTACATGACAAAAATGG	0.348		NaN											0	0	0	0.001855	0	13	36				
CYP46A1	10858	broad.mit.edu	37	14	100192565	100192565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:100192565G>A	uc001ygo.2	+	14	1304	c.1304G>A	c.(1303-1305)CGC>CAC	p.R435H	CYP46A1_uc001ygp.2_Missense_Mutation_p.R272H	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	435					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTGGGCCACCGCTCCTGCATC	0.642		NaN											0	0	0	0.00245	0	15	31				
BEGAIN	57596	broad.mit.edu	37	14	101012852	101012852	+	Silent	SNP	C	C	G	rs150444261		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:101012852C>G	uc010txa.1	-	2	308	c.162G>C	c.(160-162)ACG>ACC	p.T54T	BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Silent_p.T54T	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	54						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				GCAGCTTCTCCGTGACCTTCT	0.373		NaN											0	0	0	0.001168	0	4	7				
DYNC1H1	1778	broad.mit.edu	37	14	102510791	102510791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102510791G>A	uc001yks.2	+	71	13029	c.12865G>A	c.(12865-12867)GAC>AAC	p.D4289N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4289					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						ATGCAAGGTCGACGGACATAA	0.527		NaN											0	0	0	0.008291	0	11	28				
TECPR2	9895	broad.mit.edu	37	14	102898163	102898163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102898163C>T	uc001ylw.1	+	8	1263	c.1115C>T	c.(1114-1116)TCA>TTA	p.S372L	TECPR2_uc010awl.2_Missense_Mutation_p.S372L|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	372							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TCTGGATGCTCAGAGCGTGTC	0.552		NaN											0	0	0	0.00632	0	29	87				
TNFAIP2	7127	broad.mit.edu	37	14	103593907	103593907	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103593907C>T	uc001ymm.1	+	2	932	c.801C>T	c.(799-801)TTC>TTT	p.F267F	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	267					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			TGGCGCAGTTCGAGCTGTGCG	0.701		NaN											0	0	0	0.004672	0	3	3				
MARK3	4140	broad.mit.edu	37	14	103969477	103969477	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103969477G>T	uc001ymz.3	+	18	2841	c.2175G>T	c.(2173-2175)CTG>CTT	p.L725L	MARK3_uc001ymx.3_Silent_p.L716L|MARK3_uc001ymw.3_Silent_p.L701L|MARK3_uc001yna.3_Silent_p.L685L|MARK3_uc001ymy.3_Silent_p.L631L|MARK3_uc010awp.2_Silent_p.L724L|MARK3_uc010tyb.1_Silent_p.L520L|MARK3_uc010awq.2_Silent_p.L298L|MARK3_uc001ynd.2_Silent_p.L133L	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	725	KA1.						ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GACTGTCTCTGAACGGGGTCC	0.512		NaN											1	0	3.52763e-06	0.00499	3.61253e-06	15	36				
ASPG	374569	broad.mit.edu	37	14	104571063	104571063	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:104571063C>T	uc001yoq.1	+	9	1101	c.1041C>T	c.(1039-1041)GTC>GTT	p.V347V	ASPG_uc001yoo.1_Silent_p.V375V|ASPG_uc001yop.1_Silent_p.V347V|ASPG_uc001yor.1_Silent_p.V347V	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	347	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GCCTGGATGTCAGGAAGGAGG	0.657		NaN											0	0	0	0.013537	0	10	6				
AHNAK2	113146	broad.mit.edu	37	14	105408667	105408667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105408667C>T	uc010axc.1	-	7	13241	c.13121G>A	c.(13120-13122)GGA>GAA	p.G4374E	AHNAK2_uc001ypx.2_Missense_Mutation_p.G4274E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4374						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTCCCTCATGCAC	0.587		NaN											0	0	0	0.01441	0	87	63				
JAG2	3714	broad.mit.edu	37	14	105618508	105618508	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105618508G>A	uc001yqg.2	-	6	1313	c.909C>T	c.(907-909)CTC>CTT	p.L303L	JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.L303L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	303	Extracellular (Potential).|EGF-like 2; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTTTGTCACAGAGCAGGCCGC	0.637		NaN											0	0	0	0.004289	0	33	34				
NIPA2	81614	broad.mit.edu	37	15	23012428	23012428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:23012428G>A	uc001yux.2	-	7	912	c.299C>T	c.(298-300)TCT>TTT	p.S100F	NIPA2_uc001yuy.2_Missense_Mutation_p.S100F|NIPA2_uc001yuz.2_Missense_Mutation_p.S100F|NIPA2_uc001yva.2_Missense_Mutation_p.S81F|NIPA2_uc001yvb.2_Missense_Mutation_p.S100F|NIPA2_uc010ayb.2_Missense_Mutation_p.S81F	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	100	Cytoplasmic (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AAAGTATGAAGAAAGAATGGC	0.318		NaN											0	0	0	0.01441	0	59	101				
UBE3A	7337	broad.mit.edu	37	15	25584354	25584354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:25584354G>A	uc001zaq.2	-	11	2558	c.2558C>T	c.(2557-2559)TCA>TTA	p.S853L	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.S830L|UBE3A_uc001zas.2_Missense_Mutation_p.S850L|UBE3A_uc001zat.2_Missense_Mutation_p.S830L	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	853	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTTTGCTTGAGTATTCCGG	0.313		NaN											0	0	0	0.00278	0	22	63				
GABRA5	2558	broad.mit.edu	37	15	27188493	27188493	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:27188493G>C	uc001zbd.1	+	11	1348	c.1009G>C	c.(1009-1011)GAG>CAG	p.E337Q	GABRA5_uc001zbe.1_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	337	Helical; (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCGCTGATAGAGTTTGCCAC	0.542		NaN											0	0	0	0.001168	0	6	9				
RYR3	6263	broad.mit.edu	37	15	33941338	33941338	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33941338G>T	uc001zhi.2	+	31	4114	c.4044G>T	c.(4042-4044)GTG>GTT	p.V1348V	RYR3_uc010bar.2_Silent_p.V1348V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1348	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGATGGGTGACTCCAGACT	0.532		NaN											1	0	3.73988e-18	0.00632	3.95109e-18	29	118				
PGBD4	161779	broad.mit.edu	37	15	34395021	34395021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:34395021G>A	uc001zho.2	+	1	748	c.289G>A	c.(289-291)GAT>AAT	p.D97N	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	97											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAGAAAAGTCGATGTCAGTGA	0.433		NaN											0	0	0	0.013726	0	36	33				
AQR	9716	broad.mit.edu	37	15	35189812	35189812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35189812C>T	uc001ziv.2	-	21	2519	c.2338G>A	c.(2338-2340)GAG>AAG	p.E780K		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	780						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATGGGGCTCAACAATTAAG	0.368		NaN											0	0	0	0.012319	0	22	91				
AQR	9716	broad.mit.edu	37	15	35230975	35230975	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35230975C>T	uc001ziv.2	-	9	862	c.681G>A	c.(679-681)CAG>CAA	p.Q227Q		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	227						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGATAAACTTCTGGATGAGTT	0.338		NaN											0	0	0	0.004007	0	17	119				
C15orf54	400360	broad.mit.edu	37	15	39544580	39544580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:39544580C>G	uc001zkg.2	+	2	612	c.244C>G	c.(244-246)CAA>GAA	p.Q82E		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	82											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GACATCACATCAAATCATCCA	0.448		NaN											0	0	0	0.005524	0	40	150				
BMF	90427	broad.mit.edu	37	15	40396422	40396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40396422G>A	uc001zkv.2	-	3	498	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Nonsense_Mutation_p.Q138*	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	138	BH3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GCAATGCACTGAAGCTTTCGG	0.612		NaN											0	0	0	0.01441	0	84	90				
BUB1B	701	broad.mit.edu	37	15	40505608	40505608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40505608G>A	uc001zkx.3	+	20	2823	c.2611G>A	c.(2611-2613)GAG>AAG	p.E871K		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	871	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GACAATAGTGGAGATGCTACA	0.378		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.005443	0	28	74				
CHST14	113189	broad.mit.edu	37	15	40763862	40763862	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40763862C>G	uc001zlw.2	+	1	650	c.450C>G	c.(448-450)CTC>CTG	p.L150L		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	dermatan 4 sulfotransferase 1	150	Lumenal (Potential).				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding				0		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ACCGCTTCCTCTACTGCTACG	0.662		NaN											0	0	0	0.00499	0	17	36				
CHST14	113189	broad.mit.edu	37	15	40764104	40764104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40764104G>A	uc001zlw.2	+	1	892	c.692G>A	c.(691-693)CGA>CAA	p.R231Q		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	dermatan 4 sulfotransferase 1	231	Lumenal (Potential).				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding				0		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGAGATCCGAGAGTACCAG	0.597		NaN											0	0	0	0.01441	0	42	95				
TYRO3	7301	broad.mit.edu	37	15	41865267	41865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:41865267C>T	uc001zof.1	+	16	2167	c.1943C>T	c.(1942-1944)TCT>TTT	p.S648F		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	648	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TACCTGAGCTCTCGGAACTTC	0.572		NaN											0	0	0	0.011902	0	43	37				
UBR1	197131	broad.mit.edu	37	15	43307928	43307928	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43307928G>A	uc001zqq.2	-	29	3233	c.3167C>T	c.(3166-3168)TCA>TTA	p.S1056L	UBR1_uc010udk.1_Missense_Mutation_p.S1056L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1056					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGCATTTCTGATGTATTGTC	0.343		NaN											0	0	0	0.01441	0	57	189				
TMEM62	80021	broad.mit.edu	37	15	43476562	43476562	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43476562G>A	uc001zqr.2	+	14	1989	c.1710G>A	c.(1708-1710)TTG>TTA	p.L570L	TMEM62_uc010bda.2_Silent_p.L405L|TMEM62_uc001zqt.2_Silent_p.L139L|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	570						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GAAAATACTTGAAAATTATGC	0.418		NaN											0	0	0	0.01441	0	146	156				
EPB42	2038	broad.mit.edu	37	15	43489643	43489643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43489643C>T	uc001zra.3	-	13	2233	c.1933G>A	c.(1933-1935)GAA>AAA	p.E645K	EPB42_uc001zqz.3_Missense_Mutation_p.E312K|EPB42_uc010bde.2_Silent_p.*436*|EPB42_uc001zrb.3_Missense_Mutation_p.E675K|EPB42_uc010udm.1_Missense_Mutation_p.E567K	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	645					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGGTGTTTTCAGGCCACACT	0.498		NaN											0	0	0	0.013726	0	32	41				
DUOX2	50506	broad.mit.edu	37	15	45386349	45386349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45386349C>T	uc010bea.2	-	34	4849	c.4646G>A	c.(4645-4647)TGA>TAA	p.*1549*	DUOX2_uc001zun.2_Silent_p.*1549*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1549					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGACAGGCTCAGAAGTTCTC	0.557		NaN											0	0	0	0.010729	0	10	43				
DUOX1	53905	broad.mit.edu	37	15	45445633	45445633	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45445633C>T	uc001zus.1	+	27	3826	c.3480C>T	c.(3478-3480)CTC>CTT	p.L1160L	DUOX1_uc001zut.1_Silent_p.L1160L|DUOX1_uc010bee.1_Silent_p.L540L	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1160	Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCAGCCCCCTCAGCGTCCTCT	0.438		NaN											0	0	0	0.009535	0	29	101				
SHF	90525	broad.mit.edu	37	15	45460156	45460156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45460156G>C	uc001zuy.2	-	8	1756	c.1261C>G	c.(1261-1263)CGG>GGG	p.R421G	SHF_uc010uen.1_Missense_Mutation_p.R237G|SHF_uc010ueo.1_Missense_Mutation_p.R237G|SHF_uc010uep.1_3'UTR|SHF_uc010ueq.1_Missense_Mutation_p.R197G|SHF_uc010uer.1_3'UTR	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN	Src homology 2 domain containing F	Error:Variant_position_missing_in_B3KTY1_after_alignment										ovary(1)	1		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TAAAGAGTCCGGATGGCCACA	0.587		NaN									OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	12	29				
SHC4	399694	broad.mit.edu	37	15	49176534	49176534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:49176534C>A	uc001zxb.1	-	4	1180	c.751G>T	c.(751-753)GGC>TGC	p.G251C		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	251	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTACTTTTGCCAAGGACTGTT	0.318		NaN											1	0	6.72482e-11	0.003163	7.01243e-11	15	50				
LEO1	123169	broad.mit.edu	37	15	52250986	52250986	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52250986C>G	uc002abo.2	-	6	1214	c.1198G>C	c.(1198-1200)GAT>CAT	p.D400H	LEO1_uc010bfd.2_Intron	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	400					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		ATTTCTTCATCTTCAAATTCA	0.274		NaN											0	0	0	0.014323	0	22	65				
GNB5	10681	broad.mit.edu	37	15	52416747	52416747	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52416747C>T	uc002abt.1	-	12	1164	c.1099G>A	c.(1099-1101)GAA>AAA	p.E367K	GNB5_uc002abr.1_Missense_Mutation_p.E325K|GNB5_uc002abs.1_Missense_Mutation_p.E255K	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	367	WD 7.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)		ACGCGGTTTTCATGTCCAAAC	0.498		NaN											0	0	0	0.006122	0	18	56				
TEX9	374618	broad.mit.edu	37	15	56665652	56665652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:56665652G>C	uc002adp.2	+	3	138	c.133G>C	c.(133-135)GAA>CAA	p.E45Q	TEX9_uc002ado.1_Missense_Mutation_p.E45Q|TEX9_uc010ugl.1_5'UTR|TEX9_uc002adq.1_5'UTR	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	45											0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTAAATGCAGAATTGCAGGC	0.284		NaN											0	0	0	0.00245	0	13	24				
TCF12	6938	broad.mit.edu	37	15	57565345	57565345	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:57565345C>T	uc002aec.2	+	18	2075	c.1791C>T	c.(1789-1791)TTC>TTT	p.F597F	TCF12_uc010ugm.1_Silent_p.F649F|TCF12_uc010ugn.1_Silent_p.F617F|TCF12_uc002aea.2_Silent_p.F621F|TCF12_uc010bfs.2_Silent_p.F18F|TCF12_uc002aeb.2_Silent_p.F621F|TCF12_uc002aed.2_Silent_p.F597F|TCF12_uc002aee.2_Silent_p.F427F|TCF12_uc010bft.2_Silent_p.F451F|TCF12_uc010ugo.1_Silent_p.F361F|TCF12_uc010ugp.1_Silent_p.F254F|TCF12_uc010ugq.1_Silent_p.F231F|TCF12_uc010ugr.1_Silent_p.F210F	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	597	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGAAGCATTCAAAGAGCTTG	0.458		NaN	T	TEC	extraskeletal myxoid chondrosarcoma								0	0	0	0.004007	0	17	57				
ADAM10	102	broad.mit.edu	37	15	58904123	58904123	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:58904123C>T	uc002afd.1	-	12	2023	c.1579G>A	c.(1579-1581)GAT>AAT	p.D527N	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.D226N|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.D64N	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	527	Extracellular (Potential).|Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		CAGTCTGAATCATCCCGACAC	0.428		NaN											0	0	0	0.00333	0	23	57				
GTF2A2	2958	broad.mit.edu	37	15	59942969	59942969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:59942969G>A	uc002agg.2	-	3	258	c.76C>T	c.(76-78)CAA>TAA	p.Q26*		NM_004492	NP_004483	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	26					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)	2						GTGATCTGTTGAGACTGAGAA	0.368		NaN											0	0	0	0.004656	0	26	33				
USP3	9960	broad.mit.edu	37	15	63850344	63850344	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:63850344T>G	uc002amf.2	+	6	619	c.490T>G	c.(490-492)TTG>GTG	p.L164V	USP3_uc010uii.1_Intron|USP3_uc002amg.2_Missense_Mutation_p.L79V|USP3_uc002amh.2_Missense_Mutation_p.L142V|USP3_uc010uij.1_Missense_Mutation_p.L120V|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Missense_Mutation_p.L147V|USP3_uc002ami.2_Translation_Start_Site	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	164					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		CCTTCGGAATTTGGGGAACAC	0.428		NaN											0	0	0	0.010818	0	31	30				
HERC1	8925	broad.mit.edu	37	15	64005075	64005075	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005075C>G	uc002amp.2	-	24	4631	c.4483G>C	c.(4483-4485)GAG>CAG	p.E1495Q	HERC1_uc010uil.1_Missense_Mutation_p.E479Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1495					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGCCGGCTCTCTGCAGTAAGA	0.398		NaN											0	0	0	0.00308	0	8	19				
HERC1	8925	broad.mit.edu	37	15	64005081	64005081	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005081T>G	uc002amp.2	-	24	4625	c.4477A>C	c.(4477-4479)ACT>CCT	p.T1493P	HERC1_uc010uil.1_Missense_Mutation_p.T477P	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1493					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CTCTCTGCAGTAAGACTTTCA	0.383		NaN											0	0	0	0.008291	0	10	13				
HERC1	8925	broad.mit.edu	37	15	64017671	64017671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64017671G>A	uc002amp.2	-	18	3536	c.3388C>T	c.(3388-3390)CAG>TAG	p.Q1130*	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1130					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGAGCTGGCTGAGGTAATGGC	0.448		NaN											0	0	0	0.006122	0	14	58				
DAPK2	23604	broad.mit.edu	37	15	64332447	64332447	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64332447G>C	uc002amr.2	-	2	45	c.14C>G	c.(13-15)TCA>TGA	p.S5*	DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_5'UTR	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	5					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		ACTCCTCATTGAGGCCTGGAA	0.488		NaN											0	0	0	0.007413	0	20	95				
SNX22	79856	broad.mit.edu	37	15	64445458	64445458	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64445458G>A	uc002anc.1	+	4	338	c.279G>A	c.(277-279)CTG>CTA	p.L93L	SNX22_uc002amz.1_Silent_p.L65L|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	93	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						TCCTGTACCTGAACCAGGAGG	0.423		NaN											0	0	0	0.011902	0	43	29				
IGDCC3	9543	broad.mit.edu	37	15	65622908	65622908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65622908G>A	uc002aos.2	-	10	1985	c.1733C>T	c.(1732-1734)TCC>TTC	p.S578F	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	578	Extracellular (Potential).|Fibronectin type-III 2.									ovary(3)	3						GAGGTTGTAGGAGGAGACGGT	0.667		NaN											0	0	0	0.003954	0	25	36				
C15orf44	81556	broad.mit.edu	37	15	65890802	65890802	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65890802C>T	uc002apd.2	-	6	942	c.606_splice	c.e6-1	p.G202_splice	C15orf44_uc010uix.1_Splice_Site_p.G238_splice|C15orf44_uc010uiz.1_Splice_Site_p.G166_splice|C15orf44_uc010uja.1_Splice_Site_p.G153_splice|C15orf44_uc010ujb.1_Splice_Site_p.G123_splice|C15orf44_uc002ape.3_Splice_Site_p.G202_splice|C15orf44_uc010uiy.1_Splice_Site_p.G123_splice	NM_030800	NP_110427	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 2											ovary(1)	1						TATCAGTTTTCTAGAATATGA	0.378		NaN											0	0	0	0.006214	0	10	35				
SMAD3	4088	broad.mit.edu	37	15	67473685	67473685	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67473685G>A	uc002aqj.2	+	6	1063	c.765G>A	c.(763-765)ATG>ATA	p.M255I	SMAD3_uc010ujr.1_Missense_Mutation_p.M150I|SMAD3_uc010ujs.1_Missense_Mutation_p.M211I|SMAD3_uc010ujt.1_Missense_Mutation_p.M60I	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	255	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGCCATCCATGACTGTGGATG	0.597		NaN											0	0	0	0.004482	0	7	22				
AAGAB	79719	broad.mit.edu	37	15	67495178	67495178	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67495178G>A	uc002aqk.3	-	10	1034	c.929C>T	c.(928-930)TCA>TTA	p.S310L	AAGAB_uc002aql.2_Missense_Mutation_p.S201L|AAGAB_uc010uju.1_Missense_Mutation_p.S201L	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin-binding protein p34	310					protein transport	cytoplasm					0						TTCATCAGATGAAAGGCCTTC	0.448		NaN											0	0	0	0.004007	0	13	46				
ANP32A	8125	broad.mit.edu	37	15	69080226	69080226	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69080226C>T	uc002arl.2	-	2	258	c.87G>A	c.(85-87)TCG>TCA	p.S29S		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	29	LRR 1.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						TGCCTTCATTCGACCGACTGT	0.502		NaN											0	0	0	0.007835	0	37	112				
NOX5	79400	broad.mit.edu	37	15	69327705	69327705	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69327705C>T	uc002ars.1	+	6	887	c.867C>T	c.(865-867)CTC>CTT	p.L289L	NOX5_uc002arp.1_Silent_p.L271L|NOX5_uc002arq.1_Silent_p.L243L|NOX5_uc010bid.1_Silent_p.L254L|NOX5_uc002arr.1_Silent_p.L261L|NOX5_uc010bie.1_Silent_p.L89L|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	289	Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						TGCTGATGCTCAGACGCTGCC	0.612		NaN											0	0	0	0.001984	0	5	16				
KIF23	9493	broad.mit.edu	37	15	69721528	69721528	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69721528G>A	uc002asb.2	+	10	1165	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	KIF23_uc002asc.2_Missense_Mutation_p.E350K|KIF23_uc010bii.2_Missense_Mutation_p.E240K|KIF23_uc010ukc.1_Missense_Mutation_p.E167K|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	350	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						GACCAGAGCAGAAGGGAACAG	0.368		NaN											0	0	0	0.008291	0	11	4				
MYO9A	4649	broad.mit.edu	37	15	72338155	72338155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72338155G>C	uc002atl.3	-	2	1223	c.750C>G	c.(748-750)AAC>AAG	p.N250K	MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.N250K|MYO9A_uc002atn.1_Missense_Mutation_p.N250K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	250	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						GAATAAGAAAGTTTGTGCTTT	0.433		NaN											0	0	0	0.012319	0	21	71				
PKM2	5315	broad.mit.edu	37	15	72492911	72492911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72492911G>T	uc002atx.1	-	10	1634	c.1393C>A	c.(1393-1395)CTG>ATG	p.L465M	GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_Translation_Start_Site|PKM2_uc002ats.1_Missense_Mutation_p.L132M|PKM2_uc002att.1_Missense_Mutation_p.L231M|PKM2_uc002atu.1_Missense_Mutation_p.L231M|PKM2_uc010bit.1_Missense_Mutation_p.L470M|PKM2_uc010uki.1_Missense_Mutation_p.L539M|PKM2_uc002atv.1_Missense_Mutation_p.L500M|PKM2_uc002atw.1_Missense_Mutation_p.L465M|PKM2_uc002aty.1_Missense_Mutation_p.L465M|PKM2_uc010ukj.1_Missense_Mutation_p.L450M|PKM2_uc010ukk.1_Missense_Mutation_p.L391M|PKM2_uc010biu.1_Missense_Mutation_p.L486M	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	465	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	CCACGGTACAGGTGGGCCTGA	0.617		NaN											1	0	1.5842e-08	0.001855	1.63935e-08	14	51				
PKM2	5315	broad.mit.edu	37	15	72499149	72499149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72499149C>T	uc002atx.1	-	8	1301	c.1060G>A	c.(1060-1062)GAT>AAT	p.D354N	PKM2_uc002ats.1_Missense_Mutation_p.D21N|PKM2_uc002att.1_Missense_Mutation_p.D120N|PKM2_uc002atu.1_Missense_Mutation_p.D120N|PKM2_uc010bit.1_Missense_Mutation_p.D359N|PKM2_uc010uki.1_Missense_Mutation_p.D428N|PKM2_uc002atv.1_Missense_Mutation_p.D389N|PKM2_uc002atw.1_Missense_Mutation_p.D354N|PKM2_uc002aty.1_Missense_Mutation_p.D354N|PKM2_uc010ukj.1_Missense_Mutation_p.D339N|PKM2_uc010ukk.1_Missense_Mutation_p.D280N|PKM2_uc010biu.1_Missense_Mutation_p.D375N|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	354	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	TCGGCTCCATCCAGGACTGCA	0.592		NaN											0	0	0	0.007291	0	27	21				
HEXA	3073	broad.mit.edu	37	15	72668266	72668266	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72668266G>A	uc002aun.3	-	1	255	c.48C>T	c.(46-48)TTC>TTT	p.F16F	CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.F16F|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.F16F|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	16					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						CCCGTCCTGCGAACGCTGCCG	0.627		NaN											0	0	0	0.009535	0	28	18				
ISLR	3671	broad.mit.edu	37	15	74468086	74468086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74468086C>T	uc002axg.1	+	2	1169	c.887C>T	c.(886-888)CCT>CTT	p.P296L	ISLR_uc002axh.1_Missense_Mutation_p.P296L	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	296	Ig-like.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CCTGGCACCCCTGTGGCCAGC	0.647		NaN											0	0	0	0.004656	0	22	74				
EDC3	80153	broad.mit.edu	37	15	74927761	74927761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74927761G>A	uc002ayn.2	-	9	1669	c.1181C>T	c.(1180-1182)TCT>TTT	p.S394F	EDC3_uc002ayo.2_Missense_Mutation_p.S394F|EDC3_uc002aym.2_Missense_Mutation_p.S394F	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	394	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						TTTGAGGCTAGACACTTGTTG	0.532		NaN									OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003755	0	34	29				
C15orf17	57184	broad.mit.edu	37	15	75198699	75198699	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75198699G>A	uc002azh.3	-	2	543	c.222C>T	c.(220-222)CAC>CAT	p.H74H	C15orf17_uc010bkh.2_5'UTR|C15orf17_uc002azg.2_Silent_p.H74H|C15orf17_uc002azf.2_Silent_p.H74H	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN	hypothetical protein LOC57184	74							cytochrome-c oxidase activity				0						CCAGGTCCCGGTGCTTCTCTG	0.642		NaN											0	0	0	0.009096	0	4	14				
PPCDC	60490	broad.mit.edu	37	15	75335823	75335823	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75335823C>T	uc002azo.2	+	3	290	c.177C>T	c.(175-177)TTC>TTT	p.F59F		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	59		FMN.			coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity				0						CCAAACATTTCTACAGCCCCC	0.562		NaN									OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	12				
C15orf39	56905	broad.mit.edu	37	15	75499996	75499996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75499996C>G	uc002azp.3	+	2	1927	c.1607C>G	c.(1606-1608)TCA>TGA	p.S536*	C15orf39_uc002azq.3_Nonsense_Mutation_p.S536*|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	536											0						GAGCCTGACTCAGCCCCAGCC	0.617		NaN											0	0	0	0.004482	0	6	10				
SIN3A	25942	broad.mit.edu	37	15	75668090	75668090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75668090G>T	uc002bai.2	-	20	3766	c.3507C>A	c.(3505-3507)TTC>TTA	p.F1169L	SIN3A_uc002baj.2_Missense_Mutation_p.F1169L|SIN3A_uc010uml.1_Missense_Mutation_p.F1169L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1169					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						AATTCAGCTTGAATCTACACT	0.483		NaN											1	0	2.05212e-20	0.005524	2.17013e-20	39	102				
SH2D7	646892	broad.mit.edu	37	15	78393321	78393321	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:78393321C>T	uc010blb.1	+	5	726	c.726C>T	c.(724-726)ATC>ATT	p.I242I		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	242											0						GTGACATCATCTATGCAGACC	0.612		NaN											0	0	0	0.007413	0	18	33				
ARNT2	9915	broad.mit.edu	37	15	80883951	80883951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:80883951C>T	uc002bfr.2	+	18	2127	c.1961C>T	c.(1960-1962)TCG>TTG	p.S654L	ARNT2_uc010unm.1_Missense_Mutation_p.S643L|ARNT2_uc002bfs.2_Missense_Mutation_p.S643L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	654					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGGCGGCCCTCGGAAGTCTGG	0.562		NaN											0	0	0	0.007413	0	19	44				
MEX3B	84206	broad.mit.edu	37	15	82336488	82336488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:82336488G>A	uc002bgq.1	-	2	1038	c.723C>T	c.(721-723)TTC>TTT	p.F241F		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	241					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CGTTGGCGTGGAAGTCGTTCT	0.642		NaN											0	0	0	0.013726	0	31	83				
WDR73	84942	broad.mit.edu	37	15	85186742	85186742	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85186742G>A	uc002bkw.2	-	8	1112	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|uc002bky.1_5'Flank	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	366	WD 3.										0						CACACATGCAGAGAGGCATCA	0.468		NaN											0	0	0	0.004482	0	9	13				
WDR73	84942	broad.mit.edu	37	15	85188819	85188819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85188819G>A	uc002bkw.2	-	7	782	c.766C>T	c.(766-768)CGG>TGG	p.R256W	WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_3'UTR|uc002bky.1_Missense_Mutation_p.R104Q	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	256											0						CAGAGATCCCGGGGGTCAAGA	0.617		NaN											0	0	0	0.001984	0	7	9				
AKAP13	11214	broad.mit.edu	37	15	86076934	86076934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86076934C>G	uc002blv.1	+	4	471	c.301C>G	c.(301-303)CAA>GAA	p.Q101E	AKAP13_uc002bls.2_Missense_Mutation_p.Q101E|AKAP13_uc002blt.1_Missense_Mutation_p.Q101E|AKAP13_uc002blu.1_Missense_Mutation_p.Q101E	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	101					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TGATGCAGCTCAATTCCTAGC	0.493		NaN											0	0	0	0.010504	0	20	57				
AKAP13	11214	broad.mit.edu	37	15	86087153	86087153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86087153G>A	uc002blv.1	+	5	799	c.629G>A	c.(628-630)CGA>CAA	p.R210Q	AKAP13_uc002blt.1_Missense_Mutation_p.R210Q|AKAP13_uc002blu.1_Missense_Mutation_p.R210Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	210					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GCCTTGGAGCGAGGCTATCAC	0.582		NaN											0	0	0	0.004482	0	9	45				
ISG20	3669	broad.mit.edu	37	15	89182687	89182687	+	Silent	SNP	C	C	T	rs144037981		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89182687C>T	uc002bmv.1	+	2	383	c.90C>T	c.(88-90)CTC>CTT	p.L30L	ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	30					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GTTGCAGCCTCGTGAACGTCC	0.647		NaN									OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	12	18				
ACAN	176	broad.mit.edu	37	15	89401276	89401276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89401276G>A	uc010upo.1	+	12	5834	c.5460G>A	c.(5458-5460)ACG>ACA	p.T1820T	ACAN_uc010upp.1_Silent_p.T1820T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1820					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGTACCACGAGTGGCAGCG	0.522		NaN											0	0	0	0.001168	0	5	26				
ACAN	176	broad.mit.edu	37	15	89402471	89402471	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89402471G>A	uc010upo.1	+	12	7029	c.6655G>A	c.(6655-6657)GAG>AAG	p.E2219K	ACAN_uc010upp.1_Missense_Mutation_p.E2219K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2219					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCATCCCAGAGTCTGAGTG	0.572		NaN											0	0	0	0.00499	0	16	27				
CRTC3	64784	broad.mit.edu	37	15	91172546	91172546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91172546C>T	uc002bpp.2	+	11	1154	c.1048C>T	c.(1048-1050)CCA>TCA	p.P350S	CRTC3_uc002bpo.2_Missense_Mutation_p.P350S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	350					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAATAACCACCCACAGACATC	0.512		NaN	T	MAML2	salivary gland mucoepidermoid								0	0	0	0.00874	0	42	148				
UNC45A	55898	broad.mit.edu	37	15	91488214	91488214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91488214C>G	uc002bqg.2	+	9	1460	c.1120C>G	c.(1120-1122)CTC>GTC	p.L374V	UNC45A_uc002bqd.2_Missense_Mutation_p.L359V	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	374					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGCCTCTATTCTCCTCAGCAA	0.498		NaN											0	0	0	0.010729	0	12	66				
PRC1	9055	broad.mit.edu	37	15	91517833	91517833	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91517833C>G	uc002bqm.2	-	10	1489	c.1332G>C	c.(1330-1332)GAG>GAC	p.E444D	PRC1_uc002bqn.2_Missense_Mutation_p.E444D|PRC1_uc002bqo.2_Missense_Mutation_p.E444D|PRC1_uc010uqs.1_Missense_Mutation_p.E403D	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	444	Potential.|Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTTGGCTCTCTCTTTCTCCA	0.463		NaN											0	0	0	0.01441	0	140	127				
LINS1	55180	broad.mit.edu	37	15	101115276	101115276	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101115276C>T	uc002bwe.2	-	5	838	c.547G>A	c.(547-549)GAG>AAG	p.E183K	LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.E183K|LINS1_uc002bwg.2_Missense_Mutation_p.E183K|LINS1_uc002bwh.2_Missense_Mutation_p.E183K|LINS1_uc010usa.1_Missense_Mutation_p.E64K|LINS1_uc002bwi.2_Missense_Mutation_p.E183K	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	183											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TTATTACTCTCAGAGTATTCA	0.313		NaN											0	0	0	0.008361	0	31	88				
CHSY1	22856	broad.mit.edu	37	15	101718244	101718244	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101718244C>T	uc002bwt.1	-	4	2241	c.1758G>A	c.(1756-1758)CTG>CTA	p.L586L	CHSY1_uc010usd.1_Silent_p.L314L	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	586	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTCTCATCAGTTCAACTT	0.478		NaN											0	0	0	0.003163	0	16	45				
PRR25	388199	broad.mit.edu	37	16	863601	863601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:863601C>G	uc010uut.1	+	3	949	c.949C>G	c.(949-951)CTG>GTG	p.L317V		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	317										large_intestine(1)	1						TGGCCGGCATCTGGAGACGTC	0.721		NaN											0	0	0	0.004672	0	3	4				
TRAF7	84231	broad.mit.edu	37	16	2215900	2215900	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2215900C>T	uc002cow.2	+	3	201	c.102C>T	c.(100-102)TTC>TTT	p.F34F		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	34					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AAACGACCTTCGGACCCGCCT	0.607		NaN											0	0	0	0.001984	0	6	21				
SRRM2	23524	broad.mit.edu	37	16	2812535	2812535	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2812535C>T	uc002crk.2	+	11	2555	c.2006C>T	c.(2005-2007)TCA>TTA	p.S669L	SRRM2_uc002crj.1_Missense_Mutation_p.S573L|SRRM2_uc002crl.1_Missense_Mutation_p.S669L|SRRM2_uc010bsu.1_Missense_Mutation_p.S573L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	669	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGTGGCCGCTCACGCTCTAGA	0.617		NaN											0	0	0	0.010818	0	28	52				
SRRM2	23524	broad.mit.edu	37	16	2818133	2818133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2818133C>G	uc002crk.2	+	11	8153	c.7604C>G	c.(7603-7605)TCG>TGG	p.S2535W	SRRM2_uc002crj.1_Missense_Mutation_p.S2439W|SRRM2_uc002crl.1_Missense_Mutation_p.S2535W|SRRM2_uc010bsu.1_Missense_Mutation_p.S2439W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2535	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGTtcctcctcgtcgtcgtcg	0.408		NaN											0	0	0	0.006214	0	6	9				
SRRM2	23524	broad.mit.edu	37	16	2819183	2819183	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2819183C>G	uc002crk.2	+	12	8468	c.7919C>G	c.(7918-7920)TCT>TGT	p.S2640C		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2640	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						tcctcctcatcttcctcctcc	0.284		NaN											0	0	0	0.00623	0	41	41				
MEFV	4210	broad.mit.edu	37	16	3293307	3293307	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3293307C>G	uc002cun.1	-	10	2220	c.2180G>C	c.(2179-2181)GGA>GCA	p.G727A		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	727	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GGAGATGCTTCCAACTCTGTA	0.532		NaN											0	0	0	0.007413	0	20	55				
BTBD12	84464	broad.mit.edu	37	16	3640211	3640211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3640211G>A	uc002cvp.2	-	12	4055	c.3428C>T	c.(3427-3429)TCC>TTC	p.S1143F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1143	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GTTCAGTTTGGATGAAGATTT	0.448		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				0	0	0	0.01441	0	65	24				
BTBD12	84464	broad.mit.edu	37	16	3641190	3641190	+	Missense_Mutation	SNP	C	C	T	rs143730668		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3641190C>T	uc002cvp.2	-	12	3076	c.2449G>A	c.(2449-2451)GAA>AAA	p.E817K		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	817	Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCAAGAGTTCCTGGAAATTC	0.498		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.008361	0	29	82				
PMM2	5373	broad.mit.edu	37	16	8941604	8941604	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:8941604C>T	uc002czf.3	+	8	733	c.663C>T	c.(661-663)TTC>TTT	p.F221F	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Silent_p.F138F|PMM2_uc010uyh.1_Silent_p.F96F|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Silent_p.F74F|PMM2_uc002czg.1_5'Flank	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	221					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						ATGAGATCTTCACAGACCCCA	0.597		NaN											0	0	0	0.004289	0	36	17				
USP7	7874	broad.mit.edu	37	16	9009183	9009183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:9009183C>T	uc002czl.2	-	10	1205	c.1006G>A	c.(1006-1008)GAA>AAA	p.E336K	USP7_uc010uyk.1_Missense_Mutation_p.E237K|USP7_uc010uyj.1_Missense_Mutation_p.E237K|USP7_uc002czk.2_Missense_Mutation_p.E320K|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	336					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TAGTCTACTTCTTTACACTGG	0.299		NaN											0	0	0	0.01441	0	45	32				
TXNDC11	51061	broad.mit.edu	37	16	11792135	11792135	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11792135T>G	uc010buu.1	-	8	1096	c.1034A>C	c.(1033-1035)AAG>ACG	p.K345T	TXNDC11_uc002dbg.1_Missense_Mutation_p.K318T	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	345					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TAAGGCCCACTTACAGATGTT	0.557		NaN											0	0	0	0.004878	0	36	16				
RSL1D1	26156	broad.mit.edu	37	16	11933795	11933795	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11933795C>G	uc002dbp.1	-	8	976	c.903G>C	c.(901-903)GAG>GAC	p.E301D	RSL1D1_uc010buv.1_Missense_Mutation_p.E300D|RSL1D1_uc010uyw.1_Missense_Mutation_p.E81D|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	301	Potential.				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						tcttcttcctctccttttgtt	0.254		NaN											0	0	0	0.003755	0	38	65				
MYH11	4629	broad.mit.edu	37	16	15841995	15841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:15841995C>A	uc002ddy.2	-	17	2196	c.2089G>T	c.(2089-2091)GAG>TAG	p.E697*	MYH11_uc002ddv.2_Nonsense_Mutation_p.E704*|MYH11_uc002ddw.2_Nonsense_Mutation_p.E697*|MYH11_uc002ddx.2_Nonsense_Mutation_p.E704*|MYH11_uc010bvg.2_Nonsense_Mutation_p.E529*	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	697	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CGCAGCTGCTCCAGCACCAGG	0.622		NaN	T	CBFB	AML								1	0	1.22574e-08	0.014323	1.26901e-08	20	8				
ABCC1	4363	broad.mit.edu	37	16	16215927	16215927	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:16215927C>T	uc010bvi.2	+	24	3661	c.3486C>T	c.(3484-3486)GTC>GTT	p.V1162V	ABCC1_uc010bvj.2_Silent_p.V1103V|ABCC1_uc010bvk.2_Silent_p.V1106V|ABCC1_uc010bvl.2_Silent_p.V1162V|ABCC1_uc010bvm.2_Silent_p.V1047V|ABCC1_uc002del.3_Silent_p.V1056V	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1162	Cytoplasmic.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGCTGGGGGTCAGCGTCATTC	0.607		NaN											0	0	0	0.013537	0	13	50				
TMC7	79905	broad.mit.edu	37	16	19041668	19041668	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:19041668G>A	uc002dfq.2	+	6	964	c.834G>A	c.(832-834)CTG>CTA	p.L278L	TMC7_uc010vao.1_Silent_p.L278L|TMC7_uc002dfp.2_Silent_p.L278L|TMC7_uc010vap.1_Silent_p.L168L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	278	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						CCCTGGCCCTGAGCCTTCTTT	0.473		NaN											0	0	0	0.01441	0	53	56				
LOC81691	81691	broad.mit.edu	37	16	20835811	20835811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:20835811G>A	uc002dhv.2	+	7	930	c.667G>A	c.(667-669)GCA>ACA	p.A223T	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A223T|LOC81691_uc002dhw.2_Intron|LOC81691_uc002dhy.3_Missense_Mutation_p.A223T	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	223						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TGGTTCTATAGCAGACAATAG	0.348		NaN											0	0	0	0.008291	0	10	68				
DNAH3	55567	broad.mit.edu	37	16	21170741	21170741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21170741C>T	uc010vbe.1	-	1	22	c.22G>A	c.(22-24)GAG>AAG	p.E8K	TMEM159_uc002dif.3_Intron|TMEM159_uc002dig.3_Intron|TMEM159_uc010vbf.1_Intron|TMEM159_uc002dih.3_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	8	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGTGTGAGCTCGAGGCGCCCT	0.627		NaN											0	0	0	0.01441	0	44	38				
ZP2	7783	broad.mit.edu	37	16	21214522	21214522	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21214522C>T	uc002dii.2	-	10	1023	c.1023G>A	c.(1021-1023)CTG>CTA	p.L341L	ZP2_uc010bwn.1_Silent_p.L380L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	341	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		GGAGAAAGGTCAGCTTGAGTG	0.433		NaN											0	0	0	0.010729	0	11	53				
COG7	91949	broad.mit.edu	37	16	23436192	23436192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23436192G>A	uc002dlo.2	-	7	1075	c.887C>T	c.(886-888)TCC>TTC	p.S296F		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	296					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		GCTGAGGCAGGAGGGCAGCGA	0.642		NaN											0	0	0	0.008871	0	19	47				
GGA2	23062	broad.mit.edu	37	16	23492071	23492071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23492071C>T	uc002dlq.2	-	10	977	c.901G>A	c.(901-903)GAC>AAC	p.D301N	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	301	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GTGAGGAGGTCATTTGCCTGG	0.493		NaN											0	0	0	0.01441	0	265	46				
TNRC6A	27327	broad.mit.edu	37	16	24802299	24802299	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24802299C>T	uc002dmm.2	+	6	2450	c.2336C>T	c.(2335-2337)TCT>TTT	p.S779F	TNRC6A_uc010bxs.2_Missense_Mutation_p.S526F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S526F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S526F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S526F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	779	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GATACCTCATCTGTATCAGGG	0.517		NaN											0	0	0	0.004482	0	9	121				
TNRC6A	27327	broad.mit.edu	37	16	24817006	24817006	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24817006G>A	uc002dmm.2	+	15	4317	c.4203G>A	c.(4201-4203)CTG>CTA	p.L1401L	TNRC6A_uc010bxs.2_Silent_p.L1148L|TNRC6A_uc002dmn.2_Silent_p.L1099L|TNRC6A_uc002dmo.2_Silent_p.L1040L|TNRC6A_uc002dmp.2_Silent_p.L2L|TNRC6A_uc002dmq.2_Silent_p.L68L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1401					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TAGCCATGCTGAACCAGCTAT	0.403		NaN											0	0	0	0.010771	0	45	421				
XPO6	23214	broad.mit.edu	37	16	28128716	28128716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28128716G>A	uc002dpa.1	-	15	2428	c.1927C>T	c.(1927-1929)CAC>TAC	p.H643Y	XPO6_uc002dpb.1_Missense_Mutation_p.H629Y|XPO6_uc010vcp.1_Missense_Mutation_p.H643Y	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	643					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TTCTGCCGGTGAACTTCACTG	0.488		NaN											0	0	0	0.00632	0	28	147				
NFATC2IP	84901	broad.mit.edu	37	16	28975091	28975091	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28975091C>G	uc002dru.2	+	8	1182	c.1167C>G	c.(1165-1167)CTC>CTG	p.L389L	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L110L|NFATC2IP_uc002drv.2_Silent_p.L108L|NFATC2IP_uc010vdh.1_Silent_p.L97L	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	389	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						GACGGAAGCTCTCCTTCTTCT	0.547		NaN											0	0	0	0.004007	0	17	59				
KIF22	3835	broad.mit.edu	37	16	29814250	29814250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:29814250G>A	uc002dts.3	+	9	1465	c.1441G>A	c.(1441-1443)GAG>AAG	p.E481K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.E413K|KIF22_uc010vdw.1_Missense_Mutation_p.E413K|KIF22_uc010bzf.2_Missense_Mutation_p.E413K|KIF22_uc002dtt.1_5'Flank|KIF22_uc002frc.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	kinesin family member 22	481	Potential.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding				0						GAAGGACCTAGAGATTGAGGT	0.552		NaN											0	0	0	0.004656	0	24	28				
SEPT1	1731	broad.mit.edu	37	16	30390351	30390351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390351C>T	uc002dxy.2	-	10	1101	c.914G>A	c.(913-915)CGA>CAA	p.R305Q	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.R130Q	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	305					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GCGGCTGGCTCGATCGCGAGC	0.682		NaN											0	0	0	0.00245	0	8	4				
SEPT1	1731	broad.mit.edu	37	16	30390418	30390418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390418C>T	uc002dxy.2	-	10	1034	c.847G>A	c.(847-849)GAT>AAT	p.D283N	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.D108N	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	283					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TAGAGCAGATCGTGCGTCACC	0.667		NaN											0	0	0	0.013537	0	11	45				
SRCAP	10847	broad.mit.edu	37	16	30740403	30740403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30740403C>T	uc002dze.1	+	26	6160	c.5775C>T	c.(5773-5775)TTC>TTT	p.F1925F	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.F1720F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1925					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TCCTGGATTTCTGTACCCTGC	0.617		NaN											0	0	0	0.001855	0	12	54				
ZNF646	9726	broad.mit.edu	37	16	31088003	31088003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31088003G>T	uc002eap.2	+	2	647	c.358G>T	c.(358-360)GAG>TAG	p.E120*	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CCTCCAGGGTGAGACGGTGTC	0.582		NaN											1	0	1.33834e-09	0.007413	1.38957e-09	20	17				
ZNF646	9726	broad.mit.edu	37	16	31090756	31090756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31090756C>T	uc002eap.2	+	2	3400	c.3111C>T	c.(3109-3111)TGC>TGT	p.C1037C		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1037					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						ACAGCCTCTGCATCCAGGGTG	0.597		NaN											0	0	0	0.006999	0	37	104				
SHCBP1	79801	broad.mit.edu	37	16	46649952	46649952	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:46649952G>A	uc002eec.3	-	4	542	c.502C>T	c.(502-504)CTG>TTG	p.L168L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	168										ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGCTCCTTCAGATCAAGGAGC	0.517		NaN											0	0	0	0.014323	0	19	50				
NOD2	64127	broad.mit.edu	37	16	50745896	50745896	+	Missense_Mutation	SNP	G	G	A	rs143782684		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:50745896G>A	uc002egm.1	+	4	2179	c.2074G>A	c.(2074-2076)GAG>AAG	p.E692K	NOD2_uc010cbk.1_Missense_Mutation_p.E665K|NOD2_uc002egl.1_Missense_Mutation_p.E470K|NOD2_uc010cbl.1_Missense_Mutation_p.E470K|NOD2_uc010cbm.1_Missense_Mutation_p.E470K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	692					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CCTGCTGGCTGAGTGCCAGAC	0.672		NaN											0	0	0	0.004007	0	15	34				
RBL2	5934	broad.mit.edu	37	16	53514621	53514621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:53514621C>G	uc002ehi.3	+	20	3142	c.3024C>G	c.(3022-3024)TTC>TTG	p.F1008L	RBL2_uc002ehj.2_Missense_Mutation_p.F718L|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1008	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCATTCAGTTCTACAACAACA	0.453		NaN											0	0	0	0.01441	0	94	45				
CETP	1071	broad.mit.edu	37	16	57016076	57016076	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57016076G>A	uc002eki.2	+	14	1306	c.1249_splice	c.e14-1	p.S417_splice	CETP_uc002ekj.2_Splice_Site_p.S357_splice	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma						cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						TTGATTGGCAGAGCAGCTCCG	0.577		NaN											0	0	0	0.007835	0	38	28				
NLRC5	84166	broad.mit.edu	37	16	57062240	57062240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57062240G>A	uc002ekk.1	+	8	2411	c.2186G>A	c.(2185-2187)CGA>CAA	p.R729Q	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.R534Q|NLRC5_uc002ekm.2_Missense_Mutation_p.R534Q|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	729	LRR 2.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATCACTGCCCGAGGCATCAGC	0.552		NaN											0	0	0	0.010771	0	43	117				
CPNE2	221184	broad.mit.edu	37	16	57181557	57181557	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57181557C>G	uc002eks.1	+	16	1863	c.1634C>G	c.(1633-1635)TCG>TGG	p.S545W	CPNE2_uc010cct.1_Missense_Mutation_p.S571W|CPNE2_uc010ccu.1_Missense_Mutation_p.S545W|CPNE2_uc002ekt.1_3'UTR	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	545										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				CCCACCAACTCGGAGCCCGCC	0.602		NaN											0	0	0	0.004482	0	8	13				
CX3CL1	6376	broad.mit.edu	37	16	57416765	57416765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57416765C>T	uc002eli.2	+	3	1082	c.1015C>T	c.(1015-1017)CGG>TGG	p.R339W		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	339	Mucin-like stalk.|Extracellular (Potential).	Cleavage; to produce soluble form (Potential).			cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GGCTGCCACCCGGAGGCAGGC	0.657		NaN											0	0	0	0.001855	0	9	26				
CDH16	1014	broad.mit.edu	37	16	66945993	66945993	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:66945993C>G	uc002eql.2	-	13	1672	c.1599G>C	c.(1597-1599)CAG>CAC	p.Q533H	CDH16_uc010cdy.2_Missense_Mutation_p.Q533H|CDH16_uc002eqm.2_Missense_Mutation_p.Q436H	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	533	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCGCCACACTCTGCACCACCA	0.637		NaN											0	0	0	0.001984	0	6	22				
HSF4	3299	broad.mit.edu	37	16	67203215	67203215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67203215G>C	uc002erl.1	+	14	2253	c.1288G>C	c.(1288-1290)GAG>CAG	p.E430Q	HSF4_uc002erm.1_Missense_Mutation_p.E400Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.1_5'Flank	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	430					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGGTGAGCCTGAGCTGGCGGT	0.597		NaN											0	0	0	0.001168	0	6	13				
NOL3	8996	broad.mit.edu	37	16	67208208	67208208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67208208G>A	uc010vjd.1	+	2	329	c.322G>A	c.(322-324)GAG>AAG	p.E108K	NOL3_uc010vjc.1_Missense_Mutation_p.E108K|NOL3_uc002erp.2_Missense_Mutation_p.E46K			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	46	CARD.				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCCAGAGTACGAGGCATTGGA	0.706		NaN											0	0	0	0.009096	0	4	8				
KCTD19	146212	broad.mit.edu	37	16	67324826	67324826	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67324826C>G	uc002esu.2	-	15	2680	c.2629G>C	c.(2629-2631)GAC>CAC	p.D877H	KCTD19_uc002est.2_Missense_Mutation_p.D649H|KCTD19_uc010vjj.1_Missense_Mutation_p.D620H	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	877						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGTGCCGGTCATCCTTGAAG	0.607		NaN											0	0	0	0.000602	0	5	10				
CENPT	80152	broad.mit.edu	37	16	67865789	67865789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67865789C>G	uc002eun.3	-	8	940	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	CENPT_uc002eum.3_Missense_Mutation_p.E131Q|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.E28Q	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	131					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGTTGCAGCTCCAGGCTATAA	0.557		NaN											0	0	0	0.001168	0	6	13				
TMED6	146456	broad.mit.edu	37	16	69385466	69385466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69385466C>T	uc002exc.1	-	1	224	c.191G>A	c.(190-192)GGA>GAA	p.G64E		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	64	Lumenal (Potential).|GOLD.				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						ATAGAAGTATCCAGTCTGGTG	0.483		NaN											0	0	0	0.003954	0	24	44				
NFAT5	10725	broad.mit.edu	37	16	69726682	69726682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69726682C>T	uc002exm.1	+	12	4108	c.2900C>T	c.(2899-2901)TCT>TTT	p.S967F	NFAT5_uc002exi.2_Missense_Mutation_p.S891F|NFAT5_uc002exj.1_Missense_Mutation_p.S891F|NFAT5_uc002exk.1_Missense_Mutation_p.S891F|NFAT5_uc002exl.1_Missense_Mutation_p.S985F|NFAT5_uc002exn.1_Missense_Mutation_p.S984F|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	967	Poly-Thr.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AATGAAACTTCTACAACTACC	0.428		NaN											0	0	0	0.006122	0	19	58				
AARS	16	broad.mit.edu	37	16	70301626	70301626	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70301626G>A	uc002eyn.1	-	9	1268	c.1158C>T	c.(1156-1158)CTC>CTT	p.L386L	AARS_uc010vlu.1_Silent_p.L216L	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	386					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCCTCTGCTGAGAGTCTTGA	0.517		NaN									OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	19	37				
FUK	197258	broad.mit.edu	37	16	70504931	70504931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70504931G>A	uc002eyy.2	+	12	1184	c.1126G>A	c.(1126-1128)GTC>ATC	p.V376I	FUK_uc010cft.2_Missense_Mutation_p.V408I|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	376						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GGAGGGCCCTGTCCAGCTGGG	0.682		NaN											0	0	0	0.000602	0	4	3				
COG4	25839	broad.mit.edu	37	16	70546183	70546183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70546183C>T	uc002ezc.2	-	5	708	c.697G>A	c.(697-699)GAG>AAG	p.E233K	COG4_uc002ezb.2_5'Flank|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E233K|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	229					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				AATCCCTCCTCATGCAAACCC	0.522		NaN											0	0	0	0.00278	0	22	30				
CDH13	1012	broad.mit.edu	37	16	83817067	83817067	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:83817067C>T	uc002fgx.2	+	13	2244	c.2124C>T	c.(2122-2124)TTC>TTT	p.F708F	CDH13_uc010vns.1_Silent_p.F755F|CDH13_uc010vnt.1_Silent_p.F454F|CDH13_uc010vnu.1_Silent_p.F669F	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	708					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCAGCCTCTTCAGCTTAGCTT	0.522		NaN											0	0	0	0.010818	0	29	41				
ZZEF1	23140	broad.mit.edu	37	17	4045890	4045890	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4045890G>A	uc002fxe.2	-	1	364	c.300C>T	c.(298-300)TTC>TTT	p.F100F	ZZEF1_uc002fxk.1_Silent_p.F100F|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	100							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGCTCCCGGAACTGCTCCA	0.716		NaN											0	0	0	0.013537	0	8	4				
PELP1	27043	broad.mit.edu	37	17	4577935	4577935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4577935C>T	uc002fyi.3	-	13	1678	c.1452G>A	c.(1450-1452)GGG>GGA	p.G484G	PELP1_uc010vsf.1_Silent_p.G337G	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	484					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						TCTGCAAACTCCCATCAGGGC	0.577		NaN											0	0	0	0.003163	0	15	7				
USP6	9098	broad.mit.edu	37	17	5058719	5058719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5058719G>A	uc002gau.1	+	31	4876	c.2646G>A	c.(2644-2646)ATG>ATA	p.M882I	USP6_uc002gav.1_Missense_Mutation_p.M882I|USP6_uc010ckz.1_Missense_Mutation_p.M565I	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	882					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						ACATACAGATGAGGACAGAAC	0.453		NaN	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								0	0	0	0.01441	0	71	30				
ZNF594	84622	broad.mit.edu	37	17	5086360	5086360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5086360G>A	uc010cla.1	-	2	1348	c.1192C>T	c.(1192-1194)CAT>TAT	p.H398Y		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	398	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCTCCTGTATGAGTTACCTGA	0.423		NaN											0	0	0	0.01441	0	263	89				
NUP88	4927	broad.mit.edu	37	17	5322700	5322700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322700C>T	uc002gbo.1	-	1	297	c.271G>A	c.(271-273)GAA>AAA	p.E91K	NUP88_uc010vsx.1_Missense_Mutation_p.E91K|NUP88_uc010cle.1_Missense_Mutation_p.E91K|NUP88_uc010vsy.1_Missense_Mutation_p.E91K|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	91					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						GCGGGCTCTTCGCCGCCGCCG	0.602		NaN											0	0	0	0.007413	0	20	27				
NUP88	4927	broad.mit.edu	37	17	5322772	5322772	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322772C>G	uc002gbo.1	-	1	225	c.199G>C	c.(199-201)GAG>CAG	p.E67Q	NUP88_uc010vsx.1_Missense_Mutation_p.E67Q|NUP88_uc010cle.1_Missense_Mutation_p.E67Q|NUP88_uc010vsy.1_Missense_Mutation_p.E67Q|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	67					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						AGGAAAAGCTCTCCGCCGAGG	0.632		NaN											0	0	0	0.006999	0	37	41				
NLRP1	22861	broad.mit.edu	37	17	5418329	5418329	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5418329C>T	uc002gci.2	-	17	4722	c.4167G>A	c.(4165-4167)CTG>CTA	p.L1389L	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.L1345L|NLRP1_uc002gcj.2_Silent_p.L1359L|NLRP1_uc002gcl.2_Silent_p.L1315L|NLRP1_uc002gch.3_Silent_p.L1345L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1389	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				CTCGGGCTATCAGCTGCTCTC	0.577		NaN											0	0	0	0.007413	0	20	19				
PITPNM3	83394	broad.mit.edu	37	17	6358809	6358809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:6358809C>T	uc002gdd.3	-	20	2925	c.2774G>A	c.(2773-2775)AGA>AAA	p.R925K	PITPNM3_uc010cln.2_Missense_Mutation_p.R889K|PITPNM3_uc010clm.2_Missense_Mutation_p.R408K|PITPNM3_uc002gdc.3_Missense_Mutation_p.R516K	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	925					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGACATGGTTCTGCGCAGGTG	0.677		NaN											0	0	0	0.004007	0	16	5				
DVL2	1856	broad.mit.edu	37	17	7129501	7129501	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7129501G>A	uc002gez.1	-	15	2176	c.1894C>T	c.(1894-1896)CGG>TGG	p.R632W	uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.R626W	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	632					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						CCACCCCGCCGAAGGCTGCCC	0.716		NaN											0	0	0	0.004482	0	6	31				
GABARAP	11337	broad.mit.edu	37	17	7145647	7145647	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7145647C>T	uc002gfb.2	-	1	107	c.3G>A	c.(1-3)ATG>ATA	p.M1I	PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank	NM_007278	NP_009209	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	1	Interaction with beta-tubulin.				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding				0						ACACGAACTTCATCCTCCCGG	0.672		NaN											0	0	0	0.008361	0	32	7				
KCTD11	147040	broad.mit.edu	37	17	7256381	7256381	+	Silent	SNP	G	G	A	rs144008002		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7256381G>A	uc002gge.3	+	1	1174	c.120G>A	c.(118-120)CTG>CTA	p.L40L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	40	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				TCAATTTCCTGAGGCTGGGCC	0.667		NaN											0	0	0	0.008361	0	32	6				
SOX15	6665	broad.mit.edu	37	17	7492785	7492785	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7492785C>T	uc002ghy.1	-	2	358	c.210G>A	c.(208-210)CAG>CAA	p.Q70Q	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Silent_p.Q70Q	NM_006942	NP_008873	O60248	SOX15_HUMAN	SRY-box 15	70	HMG box.			QQ -> HE (in Ref. 5; CAA51520).	chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TCTTGGGGTTCTGCTGCGCCA	0.682		NaN									OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	12	9				
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7572986G>A	uc002gim.2	-	11	1317	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	375	Basic (repression of DNA-binding).|Interaction with CARM1.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGTAGACTGACCCTTTTTG	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	68	24		Valid		
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7577127C>T	uc002gim.2	-	8	1005	c.811G>A	c.(811-813)GAG>AAG	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	271	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACGCACCTCAAAGCTGTTC	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.014323	0	23	6		Valid		
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7702525C>T	uc002giu.1	+	55	8678	c.8664C>T	c.(8662-8664)ATC>ATT	p.I2888I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2888	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592		NaN											0	0	0	0.007291	0	30	13				
LSMD1	84316	broad.mit.edu	37	17	7760451	7760451	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7760451G>A	uc002giz.2	-	2	246	c.147C>T	c.(145-147)CTC>CTT	p.L49L	LSMD1_uc002gja.2_Silent_p.L97L|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	49	Potential.					cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TAGTCTTGTTGAGCAGCGCCT	0.642		NaN									OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003755	0	32	82				
CHD3	1107	broad.mit.edu	37	17	7792337	7792337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7792337G>A	uc002gje.2	+	1	169	c.19G>A	c.(19-21)GTG>ATG	p.V7M	CHD3_uc002gjd.2_Intron|CHD3_uc002gjf.2_Missense_Mutation_p.V7M|CHD3_uc002gjg.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	7					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGCAGACACTGTGATCCTGTG	0.458		NaN											0	0	0	0.01441	0	50	17				
MYH10	4628	broad.mit.edu	37	17	8508259	8508259	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8508259C>A	uc002gll.2	-	3	483	c.387G>T	c.(385-387)AAG>AAT	p.K129N	MYH10_uc002glm.2_Missense_Mutation_p.K129N|MYH10_uc010cnx.2_Missense_Mutation_p.K129N	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	129	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTGGAAGATTCTTGTAAGGGT	0.303		NaN											1	0	9.16793e-09	0.00499	9.49614e-09	17	65				
PIK3R6	146850	broad.mit.edu	37	17	8725949	8725949	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8725949G>A	uc002glq.1	-	16	1983	c.1743C>T	c.(1741-1743)GGC>GGT	p.G581G	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	581					platelet activation	cytosol					0						CCTCAGCCACGCCTCTCCTCC	0.607		NaN											0	0	0	0.010729	0	11	22				
NTN1	9423	broad.mit.edu	37	17	9143161	9143161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:9143161C>T	uc002glw.3	+	7	1798	c.1691C>T	c.(1690-1692)TCT>TTT	p.S564F		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	564	NTR.				apoptosis|axon guidance		protein binding				0						GCGGAGGACTCTCCGGACCAG	0.637		NaN											0	0	0	0.00308	0	7	3				
NCOR1	9611	broad.mit.edu	37	17	15942956	15942956	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:15942956G>C	uc002gpo.2	-	44	6986	c.6746C>G	c.(6745-6747)TCT>TGT	p.S2249C	NCOR1_uc002gpn.2_Missense_Mutation_p.S2146C|NCOR1_uc002gpl.2_Missense_Mutation_p.S264C|NCOR1_uc002gpm.2_Missense_Mutation_p.S769C|NCOR1_uc010vwb.1_Missense_Mutation_p.S833C|NCOR1_uc010coy.2_Missense_Mutation_p.S1157C	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2249	Interaction with C1D (By similarity).|ID2 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGCCTCTAGAGCTAACTGA	0.433		NaN											0	0	0	0.001984	0	7	12		Valid		
ULK2	9706	broad.mit.edu	37	17	19708077	19708077	+	Missense_Mutation	SNP	C	C	A	rs138826045		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:19708077C>A	uc002gwm.3	-	15	1733	c.1224G>T	c.(1222-1224)AGG>AGT	p.R408S	ULK2_uc002gwn.2_Missense_Mutation_p.R408S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	408					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTGATAATTCCTTATTTGAG	0.408		NaN											1	0	2.91434e-09	0.004878	3.023e-09	36	20				
VTN	7448	broad.mit.edu	37	17	26696647	26696647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26696647G>C	uc002hbc.2	-	3	559	c.410C>G	c.(409-411)TCA>TGA	p.S137*	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	137					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTCAGGCCTTGAGTCTATCCC	0.612		NaN											0	0	0	0.008291	0	10	37				
KIAA0100	9703	broad.mit.edu	37	17	26965042	26965042	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26965042C>G	uc002hbu.2	-	14	1682	c.1583G>C	c.(1582-1584)CGA>CCA	p.R528P		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	528						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTGAAGTCCTCGAATGGTACA	0.502		NaN											0	0	0	0.014323	0	22	31				
KIAA0100	9703	broad.mit.edu	37	17	26967622	26967622	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967622C>T	uc002hbu.2	-	8	945	c.846G>A	c.(844-846)AAG>AAA	p.K282K	KIAA0100_uc002hbv.2_Silent_p.K282K|KIAA0100_uc010crr.1_Silent_p.K139K	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	282						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGTTCTCCATCTTAACCTTGA	0.463		NaN											0	0	0	0.004878	0	33	74				
KIAA0100	9703	broad.mit.edu	37	17	26967681	26967681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967681C>T	uc002hbu.2	-	8	886	c.787G>A	c.(787-789)GAG>AAG	p.E263K	KIAA0100_uc002hbv.2_Missense_Mutation_p.E263K|KIAA0100_uc010crr.1_Missense_Mutation_p.E120K	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	263						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGAGTTGGCTCAACTAAGTTT	0.448		NaN											0	0	0	0.00278	0	25	43				
KIAA0100	9703	broad.mit.edu	37	17	26967693	26967693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967693C>T	uc002hbu.2	-	8	874	c.775G>A	c.(775-777)GAA>AAA	p.E259K	KIAA0100_uc002hbv.2_Missense_Mutation_p.E259K|KIAA0100_uc010crr.1_Missense_Mutation_p.E116K	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	259						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACTAAGTTTTCTGTCACCTCT	0.463		NaN											0	0	0	0.014323	0	23	36				
TRAF4	9618	broad.mit.edu	37	17	27075418	27075418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075418G>A	uc002hcs.2	+	5	709	c.601G>A	c.(601-603)GAG>AAG	p.E201K	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	201	TRAF-type 2.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTGCACTAAGGAGTTCGTCTT	0.572		NaN											0	0	0	0.00499	0	16	19				
TRAF4	9618	broad.mit.edu	37	17	27076569	27076569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27076569G>A	uc002hcs.2	+	7	1495	c.1387G>A	c.(1387-1389)GAA>AAA	p.E463K	TRAF4_uc002hcq.1_Missense_Mutation_p.E188K	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	463					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TGCTGCTGTTGAACTGCCCCG	0.557		NaN											0	0	0	0.00333	0	22	52				
MYO18A	399687	broad.mit.edu	37	17	27438549	27438549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27438549G>A	uc002hdt.1	-	17	2951	c.2793C>T	c.(2791-2793)CAC>CAT	p.H931H	MYO18A_uc010wbc.1_Silent_p.H473H|MYO18A_uc002hds.2_Silent_p.H473H|MYO18A_uc010csa.1_Silent_p.H931H|MYO18A_uc002hdu.1_Silent_p.H931H|MYO18A_uc010wbd.1_Silent_p.H600H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	931	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCATGGCTGTGGCCCAGGA	0.572		NaN									OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	29				
BLMH	642	broad.mit.edu	37	17	28598396	28598396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28598396C>T	uc002hez.1	-	10	1276	c.1039G>A	c.(1039-1041)GAG>AAG	p.E347K	BLMH_uc010wbn.1_Missense_Mutation_p.E260K	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	347					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						AACACTAACTCATGGTCATAG	0.413		NaN											0	0	0	0.005443	0	27	54				
BLMH	642	broad.mit.edu	37	17	28601152	28601152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28601152C>T	uc002hez.1	-	7	946	c.709G>A	c.(709-711)GAC>AAC	p.D237N	BLMH_uc010wbn.1_Missense_Mutation_p.D150N	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	237					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						TTATCTTTGTCTCGATATTCC	0.438		NaN											0	0	0	0.00278	0	23	76				
CPD	1362	broad.mit.edu	37	17	28770948	28770948	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28770948C>T	uc002hfb.1	+	11	2517	c.2502C>T	c.(2500-2502)CTC>CTT	p.L834L	CPD_uc010wbo.1_Silent_p.L587L|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	834	Extracellular (Potential).|Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						ACTGGCGTCTCTTGGTTCCAG	0.448		NaN											0	0	0	0.013114	0	45	182				
SUZ12	23512	broad.mit.edu	37	17	30302704	30302704	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:30302704G>A	uc002hgs.2	+	7	1017	c.795G>A	c.(793-795)ATG>ATA	p.M265I	SUZ12_uc002hgt.2_Missense_Mutation_p.M242I	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	265					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTAATGGAATGATTAATGGAG	0.333		NaN	T	JAZF1	endometrial stromal tumours								0	0	0	0.00499	0	15	68				
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33288630G>A	uc002hih.3	+	1	82	c.45G>A	c.(43-45)GTG>GTA	p.V15V	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	15					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557		NaN											0	0	0	0.003271	0	26	64				
SLFN11	91607	broad.mit.edu	37	17	33690544	33690544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33690544C>T	uc010ctp.2	-	4	725	c.283G>A	c.(283-285)GAG>AAG	p.E95K	SLFN11_uc010ctq.2_Missense_Mutation_p.E95K|SLFN11_uc002hjh.3_Missense_Mutation_p.E95K|SLFN11_uc002hjg.3_Missense_Mutation_p.E95K|SLFN11_uc010ctr.2_Missense_Mutation_p.E95K	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	95						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTTGGTCTCAAAGAAAGCC	0.473		NaN											0	0	0	0.01441	0	56	60				
LYZL6	57151	broad.mit.edu	37	17	34264799	34264799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:34264799C>G	uc002hkj.1	-	2	411	c.261G>C	c.(259-261)AAG>AAC	p.K87N	LYZL6_uc002hkk.1_Missense_Mutation_p.K87N	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	87					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAGTAACTCTTATAATCGT	0.473		NaN											0	0	0	0.003755	0	23	40				
LHX1	3975	broad.mit.edu	37	17	35297719	35297719	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35297719C>T	uc002hnh.1	+	2	1299	c.303C>T	c.(301-303)GGC>GGT	p.G101G	LHX1_uc010cux.1_Silent_p.G9G	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	101	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				TCTCCACTGGCGAGGAACTCT	0.522		NaN											0	0	0	0.001984	0	6	18				
ACACA	31	broad.mit.edu	37	17	35545234	35545234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35545234C>T	uc002hnm.2	-	39	4839	c.4648G>A	c.(4648-4650)GAC>AAC	p.D1550N	ACACA_uc002hnk.2_Missense_Mutation_p.D1472N|ACACA_uc002hnl.2_Missense_Mutation_p.D1492N|ACACA_uc002hnn.2_Missense_Mutation_p.D1550N|ACACA_uc002hno.2_Missense_Mutation_p.D1587N|ACACA_uc010cuy.2_Missense_Mutation_p.D244N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1550					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTCCTGGAGTCAGTCACTTCC	0.468		NaN											0	0	0	0.005443	0	26	29				
MRPL45	84311	broad.mit.edu	37	17	36476600	36476600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36476600G>A	uc002hpy.2	+	6	761	c.609G>A	c.(607-609)ATG>ATA	p.M203I		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45 precursor	203					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome				0	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAAGTATGATGAACCAGGGCA	0.507		NaN											0	0	0	0.01441	0	110	114				
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36486038C>T	uc002hpz.2	-	11	3435	c.3414G>A	c.(3412-3414)GTG>GTA	p.V1138V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1138	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632		NaN											0	0	0	0.003271	0	35	42				
MED1	5469	broad.mit.edu	37	17	37576107	37576107	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:37576107C>G	uc002hrv.3	-	14	1372	c.1160G>C	c.(1159-1161)AGT>ACT	p.S387T	MED1_uc010wee.1_Missense_Mutation_p.S215T|MED1_uc002hru.2_Missense_Mutation_p.S387T	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	387	Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCCTGTAGACTTCGGCCATC	0.483		NaN								HNSCC(31;0.082)			0	0	0	0.012319	0	23	68				
WIPF2	147179	broad.mit.edu	37	17	38421182	38421182	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38421182C>A	uc002hug.1	+	5	994	c.754C>A	c.(754-756)CCT>ACT	p.P252T	WIPF2_uc002huh.1_Missense_Mutation_p.P102T|WIPF2_uc010cww.1_Missense_Mutation_p.P102T|WIPF2_uc002hui.1_Missense_Mutation_p.P252T|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P252T	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	252	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						GGCTCCTCCTCCTCCGCCTTA	0.597		NaN								HNSCC(43;0.11)			1	0	5.34276e-22	0.01441	5.6555e-22	44	112				
KRT25	147183	broad.mit.edu	37	17	38910644	38910644	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38910644C>G	uc002hve.2	-	2	567	c.506G>C	c.(505-507)AGA>ACA	p.R169T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	169	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				TTACTTGAGTCTGAAATCATC	0.378		NaN											0	0	0	0.003954	0	23	54				
KRT39	390792	broad.mit.edu	37	17	39116576	39116576	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39116576C>G	uc002hvo.1	-	6	1210	c.1174G>C	c.(1174-1176)GAG>CAG	p.E392Q	KRT39_uc010wfm.1_Missense_Mutation_p.E125Q	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	392	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				GTGGTAATCTCACATTCCAGC	0.468		NaN											0	0	0	0.005524	0	37	90				
KRT40	125115	broad.mit.edu	37	17	39137159	39137159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39137159C>G	uc010cxh.1	-	7	1014	c.853G>C	c.(853-855)GAA>CAA	p.E285Q	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	285	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TTCAGCTCTTCTGTCTGAAAC	0.483		NaN											0	0	0	0.01441	0	69	98				
KRTAP1-5	83895	broad.mit.edu	37	17	39183285	39183285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183285C>T	uc002hvu.2	-	1	170	c.123G>A	c.(121-123)CAG>CAA	p.Q41Q		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	41	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGAAGCTAGTCTGGCAGCTGC	0.607		NaN											0	0	0	0.008291	0	9	23				
KRTAP1-5	83895	broad.mit.edu	37	17	39183317	39183317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183317C>G	uc002hvu.2	-	1	138	c.91G>C	c.(91-93)GAG>CAG	p.E31Q		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	31	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.597		NaN											0	0	0	0.00308	0	4	14				
KRTAP1-3	81850	broad.mit.edu	37	17	39190696	39190696	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39190696C>T	uc002hvv.2	-	1	412	c.378G>A	c.(376-378)GTG>GTA	p.V126V		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	136						extracellular region|keratin filament	structural constituent of epidermis				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTGTGCAGCTCACCACACAGC	0.677		NaN											0	0	0	0.004007	0	16	16				
KRT31	3881	broad.mit.edu	37	17	39551521	39551521	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39551521G>A	uc002hwn.2	-	5	905	c.852C>T	c.(850-852)ATC>ATT	p.I284I	KRT31_uc010cxn.2_Silent_p.I284I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	284	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.607		NaN											0	0	0	0.003954	0	24	80				
NT5C3L	115024	broad.mit.edu	37	17	39981850	39981850	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39981850C>G	uc002hyc.3	-	9	939	c.930G>C	c.(928-930)GAG>GAC	p.E310D	NT5C3L_uc002hxx.3_Missense_Mutation_p.E175D|NT5C3L_uc010wfu.1_Missense_Mutation_p.E175D|NT5C3L_uc002hyb.3_Missense_Mutation_p.E233D|NT5C3L_uc002hyd.3_Missense_Mutation_p.E233D|NT5C3L_uc002hxy.3_Missense_Mutation_p.E268D|NT5C3L_uc002hxz.3_Missense_Mutation_p.E233D|NT5C3L_uc002hya.3_3'UTR	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	5'-nucleotidase, cytosolic III-like	276						cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCCAGAGTCTCGTCCTTCT	0.637		NaN											0	0	0	0.01441	0	51	42				
KLHL10	317719	broad.mit.edu	37	17	40001428	40001428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40001428G>A	uc010cxr.2	+	3	877	c.735G>A	c.(733-735)ATG>ATA	p.M245I	KLHL10_uc010wfv.1_Missense_Mutation_p.M239I|KLHL10_uc010wfw.1_Missense_Mutation_p.M157I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	245						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				ATGTTAAGATGAATGACTATG	0.433		NaN											0	0	0	0.013537	0	13	42				
ACLY	47	broad.mit.edu	37	17	40069977	40069977	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40069977C>T	uc002hyg.2	-	2	313	c.150G>A	c.(148-150)CTG>CTA	p.L50L	ACLY_uc002hyh.2_Silent_p.L50L|ACLY_uc002hyi.2_Silent_p.L104L|ACLY_uc010wfx.1_Silent_p.L104L|ACLY_uc010wfy.1_Silent_p.L50L	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	50					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CCTGGCTGAGCAGCCAGGGGT	0.582		NaN											0	0	0	0.00499	0	17	51				
ACLY	47	broad.mit.edu	37	17	40070105	40070105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40070105C>T	uc002hyg.2	-	2	185	c.22G>A	c.(22-24)GAG>AAG	p.E8K	ACLY_uc002hyh.2_Missense_Mutation_p.E8K|ACLY_uc002hyi.2_Missense_Mutation_p.E62K|ACLY_uc010wfx.1_Missense_Mutation_p.E62K|ACLY_uc010wfy.1_Missense_Mutation_p.E8K	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	8					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CCCGTCTGCTCTGAAATTGCC	0.547		NaN											0	0	0	0.004289	0	34	102				
KCNH4	23415	broad.mit.edu	37	17	40323937	40323937	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40323937G>A	uc002hzb.2	-	7	1397	c.1064C>T	c.(1063-1065)TCT>TTT	p.S355F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	355	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGCACTGAGAGTACCGCTC	0.527		NaN											0	0	0	0.001984	0	7	14				
STAT5B	6777	broad.mit.edu	37	17	40384031	40384031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40384031C>G	uc002hzh.2	-	2	284	c.115G>C	c.(115-117)GAA>CAA	p.E39Q	STAT5B_uc002hzi.3_Missense_Mutation_p.E39Q	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	39					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCTTGGCTTTCAATCCACTGG	0.423		NaN											0	0	0	0.01441	0	50	55				
NAGLU	4669	broad.mit.edu	37	17	40689536	40689536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40689536G>A	uc002hzv.2	+	2	844	c.504G>A	c.(502-504)TGG>TGA	p.W168*		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	168						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CACTGGCCTGGAGCGGCCAGG	0.647		NaN											0	0	0	0.008291	0	11	35				
PLEKHH3	79990	broad.mit.edu	37	17	40828484	40828484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40828484C>T	uc002iau.2	-	1	565	c.98G>A	c.(97-99)GGG>GAG	p.G33E	PLEKHH3_uc002iat.1_5'Flank|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G33E	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	33					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCCTCGTCCCCGTCCCCGCT	0.672		NaN											0	0	0	0.009096	0	4	9				
AARSD1	80755	broad.mit.edu	37	17	41116252	41116252	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:41116252G>A	uc002icc.2	-	2	45	c.42C>T	c.(40-42)TTC>TTT	p.F14F	AARSD1_uc002icd.2_Silent_p.F127F|AARSD1_uc002ice.2_Silent_p.F97F|AARSD1_uc002icf.2_Silent_p.F188F|AARSD1_uc010whg.1_Silent_p.F188F|AARSD1_uc010cyu.1_Silent_p.F14F	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	14					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGGTGGTGGTGAACTGAACAG	0.468		NaN											0	0	0	0.001855	0	14	31				
ATXN7L3	56970	broad.mit.edu	37	17	42274334	42274334	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42274334G>A	uc002iga.2	-	4	508	c.417C>T	c.(415-417)ATC>ATT	p.I139I	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.I139I	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	139					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTTGTCATTGATGTCATCAT	0.512		NaN											0	0	0	0.01441	0	41	97				
GPATCH8	23131	broad.mit.edu	37	17	42513873	42513873	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42513873G>C	uc002igw.1	-	4	298	c.234C>G	c.(232-234)GTC>GTG	p.V78V	GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	78	G-patch.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCATGCCCATGACATCATACT	0.373		NaN											0	0	0	0.013114	0	45	60				
C17orf104	284071	broad.mit.edu	37	17	42745073	42745073	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745073G>C	uc010czv.2	+	5	1794	c.1794G>C	c.(1792-1794)GGG>GGC	p.G598G	C17orf104_uc002igy.1_Silent_p.G432G|C17orf104_uc002igz.3_Silent_p.G432G|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.G432G	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	598										central_nervous_system(1)	1						AGAAGTATGGGATAATTGAAA	0.353		NaN											0	0	0	0.000602	0	5	30				
C17orf104	284071	broad.mit.edu	37	17	42745351	42745351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745351G>A	uc010czv.2	+	5	2072	c.2072G>A	c.(2071-2073)AGA>AAA	p.R691K	C17orf104_uc002igy.1_Missense_Mutation_p.R525K|C17orf104_uc002igz.3_Missense_Mutation_p.R525K|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.R525K	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	691										central_nervous_system(1)	1						TTTCCCCTAAGATCCACCCAC	0.368		NaN											0	0	0	0.000602	0	5	27				
HEXIM1	10614	broad.mit.edu	37	17	43226866	43226866	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43226866C>T	uc002iig.2	+	1	2183	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	103					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						GCGGCGACTTCCCGCCGCCGG	0.672		NaN									OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	5	8				
PLEKHM1	9842	broad.mit.edu	37	17	43545870	43545870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43545870G>A	uc002ija.2	-	5	1183	c.1013C>T	c.(1012-1014)TCG>TTG	p.S338L	PLEKHM1_uc010wjm.1_Missense_Mutation_p.S310L|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S287L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	338					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GAGGGAGAGCGAGGCCTGTGG	0.552		NaN											0	0	0	0.00632	0	28	30				
OSBPL7	114881	broad.mit.edu	37	17	45891976	45891976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:45891976G>A	uc002ilx.1	-	14	1465	c.1262C>T	c.(1261-1263)TCA>TTA	p.S421L	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	421					lipid transport		lipid binding				0						CTCCTCCTCTGAGCCCTGGGC	0.642		NaN											0	0	0	0.001168	0	6	22				
HOXB13	10481	broad.mit.edu	37	17	46805665	46805665	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:46805665C>T	uc002ioa.2	-	1	447	c.291G>A	c.(289-291)CTG>CTA	p.L97L		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CACAGGGTTTCAGCGAGCTCC	0.672		NaN											0	0	0	0.009718	0	39	46				
SNF8	11267	broad.mit.edu	37	17	47022045	47022045	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:47022045C>T	uc002ioj.2	-	1	110	c.52G>A	c.(52-54)GAG>AAG	p.E18K	SNF8_uc002iok.2_Missense_Mutation_p.E18K	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	18					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding				0						CTGCTCACCTCTGCAAGTTTC	0.512		NaN											0	0	0	0.01441	0	48	132				
EPN3	55040	broad.mit.edu	37	17	48618874	48618874	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48618874G>A	uc002ira.3	+	9	1839	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Silent_p.T496T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.T441T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	468						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AAAATGGCACGAAGGAGCCAG	0.582		NaN											0	0	0	0.004482	0	9	41				
WFIKKN2	124857	broad.mit.edu	37	17	48917453	48917453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48917453C>T	uc002isv.3	+	2	1498	c.804C>T	c.(802-804)AAC>AAT	p.N268N	WFIKKN2_uc010dbu.2_Silent_p.N175N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	268	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGTCACCAACATTGCCCAGC	0.627		NaN											0	0	0	0.00499	0	18	34				
SCPEP1	59342	broad.mit.edu	37	17	55058443	55058443	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55058443G>A	uc002iuv.3	+	2	130	c.77G>A	c.(76-78)GGA>GAA	p.G26E	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Intron	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	26					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TCTGTTTCAGGAGCTGTCATT	0.483		NaN											0	0	0	0.012319	0	22	15				
SCPEP1	59342	broad.mit.edu	37	17	55074400	55074400	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55074400C>G	uc002iuv.3	+	9	917	c.864C>G	c.(862-864)TTC>TTG	p.F288L	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.F238L	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	288					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GTCTAGAATTCACACAGAGCC	0.363		NaN											0	0	0	0.00245	0	13	54				
MSI2	124540	broad.mit.edu	37	17	55693406	55693406	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55693406T>C	uc002iuz.1	+	9	786	c.613T>C	c.(613-615)TAC>CAC	p.Y205H	MSI2_uc010wnm.1_Missense_Mutation_p.Y183H|MSI2_uc002iva.2_Missense_Mutation_p.Y201H	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	205						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGGACTGCCTTACACCATGGA	0.463		NaN	T	HOXA9	CML								0	0	0	0.00623	0	36	106				
BZRAP1	9256	broad.mit.edu	37	17	56388949	56388949	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56388949A>C	uc002ivx.3	-	18	3935	c.3064T>G	c.(3064-3066)TAC>GAC	p.Y1022D	BZRAP1_uc010dcs.2_Missense_Mutation_p.Y962D|BZRAP1_uc010wnt.1_Missense_Mutation_p.Y1022D	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1022	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCAGCGTAGATGGCATAG	0.602		NaN											0	0	0	0.00245	0	15	41				
SUPT4H1	6827	broad.mit.edu	37	17	56428800	56428800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56428800C>T	uc002iwe.1	-	2	206	c.139G>A	c.(139-141)GAG>AAG	p.E47K	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	47					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATACCATCTCTCGGTTACCC	0.408		NaN											0	0	0	0.004656	0	26	115				
HSF5	124535	broad.mit.edu	37	17	56565211	56565211	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56565211A>C	uc002iwi.1	-	1	549	c.425T>G	c.(424-426)CTG>CGG	p.L142R		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	142	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCACCTCCAGGCCGGCCGC	0.662		NaN											0	0	0	0.004672	0	2	0				
C17orf47	284083	broad.mit.edu	37	17	56620915	56620915	+	Silent	SNP	C	C	T	rs139661038		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56620915C>T	uc002iwq.1	-	1	769	c.633G>A	c.(631-633)ACG>ACA	p.T211T	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	211										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGTAGTCGTAATTCTTT	0.512		NaN											0	0	0	0.01441	0	48	140				
TEX14	56155	broad.mit.edu	37	17	56650602	56650602	+	Missense_Mutation	SNP	A	A	C	rs140397968		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56650602A>C	uc010dcz.1	-	24	3707	c.3589T>G	c.(3589-3591)TCA>GCA	p.S1197A	TEX14_uc002iwr.1_Missense_Mutation_p.S1191A|TEX14_uc002iws.1_Missense_Mutation_p.S1151A|TEX14_uc010dda.1_Missense_Mutation_p.S931A	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1197						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTTGCATGAAGCTTCCTTA	0.428		NaN											0	0	0	0.01441	0	60	214				
BCAS3	54828	broad.mit.edu	37	17	59067592	59067592	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:59067592G>A	uc002iyv.3	+	15	1591	c.1482G>A	c.(1480-1482)TTG>TTA	p.L494L	BCAS3_uc010wow.1_Silent_p.L281L|BCAS3_uc002iyu.3_Silent_p.L494L|BCAS3_uc002iyw.3_Silent_p.L490L|BCAS3_uc002iyx.1_Silent_p.L309L|BCAS3_uc002iyy.3_Silent_p.L265L|BCAS3_uc002iyz.3_Silent_p.L48L|BCAS3_uc002iza.3_Silent_p.L48L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	494						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGTCACCCTTGCATGGTAATT	0.438		NaN											0	0	0	0.014323	0	21	52				
MED13	9969	broad.mit.edu	37	17	60088352	60088352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:60088352G>A	uc002izo.2	-	9	1603	c.1526C>T	c.(1525-1527)TCA>TTA	p.S509L	MED13_uc002izp.2_Missense_Mutation_p.S125L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	509					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TCGGATATTTGAAAATCTCAC	0.463		NaN											0	0	0	0.00632	0	26	86				
LRRC37A3	374819	broad.mit.edu	37	17	62892235	62892235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:62892235C>T	uc002jey.2	-	3	1672	c.1141G>A	c.(1141-1143)GAG>AAG	p.E381K	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	381	Extracellular (Potential).					integral to membrane					0						CCTGGGGTCTCCTGCTGGGTC	0.517		NaN											0	0	0	0.01441	0	82	153				
SLC16A6	9120	broad.mit.edu	37	17	66267782	66267782	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:66267782C>T	uc002jgz.1	-	5	707	c.519G>A	c.(517-519)CTG>CTA	p.L173L	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.L173L	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	173	Extracellular (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCGCTCCTTCAGAGCCATGA	0.448		NaN											0	0	0	0.008361	0	25	24				
ABCA10	10349	broad.mit.edu	37	17	67149526	67149526	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67149526C>A	uc010dfa.1	-	35	4935	c.4056G>T	c.(4054-4056)CTG>CTT	p.L1352L	ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Silent_p.L344L|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1352	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CCAGGATGCTCAGCACAAAGC	0.562		NaN											1	0	4.11147e-13	0.003755	4.30386e-13	36	110				
ABCA10	10349	broad.mit.edu	37	17	67170479	67170479	+	Silent	SNP	T	T	C	rs143503638	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67170479T>C	uc010dfa.1	-	26	3984	c.3105A>G	c.(3103-3105)TCA>TCG	p.S1035S	ABCA10_uc010wqs.1_Silent_p.S27S|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1035					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					GAAAGATGAATGAAAGCACAT	0.338		NaN											0	0	0	0.003755	0	32	130				
SOX9	6662	broad.mit.edu	37	17	70119040	70119040	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:70119040C>T	uc002jiw.2	+	2	984	c.612C>T	c.(610-612)TTC>TTT	p.F204F	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	204					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACGCCATCTTCAAGGCGCTGC	0.677		NaN											0	0	0	0.00623	0	35	39				
ICT1	3396	broad.mit.edu	37	17	73016661	73016661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:73016661G>A	uc002jmm.2	+	5	447	c.445G>A	c.(445-447)GAT>AAT	p.D149N		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	149					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					GAATCTGGCAGATTGCCTGCA	0.453		NaN											0	0	0	0.004007	0	14	41				
SRP68	6730	broad.mit.edu	37	17	74053483	74053483	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:74053483C>T	uc002jqk.1	-	8	1013	c.978_splice	c.e8+1	p.Q326_splice	SRP68_uc010wsu.1_Splice_Site_p.Q225_splice|SRP68_uc002jql.1_Splice_Site_p.Q288_splice	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa						response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						TTCCTCCTCACCTGGACAATA	0.448		NaN											0	0	0	0.010504	0	20	43				
CBX2	84733	broad.mit.edu	37	17	77758613	77758613	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77758613G>A	uc002jxc.2	+	5	1413	c.1371G>A	c.(1369-1371)GAG>GAA	p.E457E		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	457					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTGCCAGAGATGAGCGCAG	0.672		NaN											0	0	0	0.001168	0	4	8				
CBX8	57332	broad.mit.edu	37	17	77770064	77770064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77770064G>A	uc002jxd.1	-	3	257	c.164C>T	c.(163-165)GCA>GTA	p.A55V		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	55	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCAAAGGCTGCGAGCAAGCG	0.532		NaN											0	0	0	0.01441	0	118	106				
CCDC40	55036	broad.mit.edu	37	17	78039319	78039319	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:78039319G>C	uc010dht.2	+	10	1503	c.1476G>C	c.(1474-1476)AAG>AAC	p.K492N	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.K275N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	492					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTGGAGAAGAGGCGCATCA	0.632		NaN											0	0	0	0.001855	0	14	54				
ACTG1	71	broad.mit.edu	37	17	79478272	79478272	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79478272G>A	uc002kaj.1	-	3	769	c.744C>T	c.(742-744)ATC>ATT	p.I248I	ACTG1_uc002kah.1_Silent_p.I126I|ACTG1_uc002kai.1_Silent_p.I205I|ACTG1_uc002kak.1_Silent_p.I248I|ACTG1_uc010wun.1_Silent_p.I248I|ACTG1_uc002kal.1_Silent_p.I248I|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	248					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGCCAATGGTGATGACCTGGC	0.587		NaN											0	0	0	0.01441	0	50	75				
FSCN2	25794	broad.mit.edu	37	17	79503670	79503670	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79503670C>G	uc010wup.1	+	4	1269	c.1128C>G	c.(1126-1128)CTC>CTG	p.L376L	FSCN2_uc010wuo.1_Silent_p.L400L	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	376					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTTCACCCTCAAGCTCATCA	0.701		NaN											0	0	0	0.000602	0	2	2				
P4HB	5034	broad.mit.edu	37	17	79803467	79803467	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79803467G>A	uc002kbn.1	-	9	1526	c.1329C>T	c.(1327-1329)CTC>CTT	p.L443L	P4HB_uc002kbl.1_Silent_p.L120L|P4HB_uc002kbm.1_Silent_p.L120L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	443	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAAAGAACTTGAGTGTGGGGA	0.622		NaN											0	0	0	0.010729	0	11	11				
DUS1L	64118	broad.mit.edu	37	17	80018633	80018633	+	Silent	SNP	C	C	T	rs150777513		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018633C>T	uc002kdq.2	-	9	1385	c.966G>A	c.(964-966)GCG>GCA	p.A322A	DUS1L_uc002kdp.2_Silent_p.A191A|DUS1L_uc002kdr.2_Silent_p.A322A|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	322					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGTGGGCTTCGCTCCCTCCT	0.687		NaN											0	0	0	0.000602	0	5	11				
DUS1L	64118	broad.mit.edu	37	17	80018637	80018637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018637C>T	uc002kdq.2	-	9	1381	c.962G>A	c.(961-963)GGA>GAA	p.G321E	DUS1L_uc002kdp.2_Missense_Mutation_p.G190E|DUS1L_uc002kdr.2_Missense_Mutation_p.G321E|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	321					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGCTTCGCTCCCTCCTGCCT	0.692		NaN											0	0	0	0.000602	0	5	10				
DUS1L	64118	broad.mit.edu	37	17	80019230	80019230	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80019230C>G	uc002kdq.2	-	7	1117	c.698_splice	c.e7-1	p.E233_splice	DUS1L_uc002kdp.2_Splice_Site_p.E102_splice|DUS1L_uc002kdr.2_Splice_Site_p.E233_splice|DUS1L_uc002kds.2_Splice_Site|DUS1L_uc002kdt.2_Splice_Site|DUS1L_uc010wvi.1_Intron	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein						tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTTGCCCTCTGTGGGAGGA	0.667		NaN											0	0	0	0.001168	0	5	24				
WDR45L	56270	broad.mit.edu	37	17	80574488	80574488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80574488G>A	uc002kfq.2	-	9	1035	c.840C>T	c.(838-840)TTC>TTT	p.F280F	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	280					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			ACTTGGAACTGAAGTATTTTG	0.463		NaN											0	0	0	0.005443	0	27	88				
LPIN2	9663	broad.mit.edu	37	18	2920390	2920390	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:2920390G>A	uc002klo.2	-	20	2831	c.2592C>T	c.(2590-2592)CTC>CTT	p.L864L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	864					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTCCTTACTGAGAAGGGGGA	0.537		NaN											0	0	0	0.007413	0	17	28				
DLGAP1	9229	broad.mit.edu	37	18	3814113	3814113	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:3814113C>T	uc002kmf.2	-	2	1185	c.1118G>A	c.(1117-1119)AGA>AAA	p.R373K	DLGAP1_uc010wyz.1_Missense_Mutation_p.R373K|DLGAP1_uc002kme.1_Missense_Mutation_p.R71K|DLGAP1_uc010dkn.2_Missense_Mutation_p.R71K|DLGAP1_uc010wyw.1_Missense_Mutation_p.R79K|DLGAP1_uc010wyx.1_Missense_Mutation_p.R85K|DLGAP1_uc010wyy.1_Missense_Mutation_p.R85K|DLGAP1_uc002kmg.2_Missense_Mutation_p.R71K|DLGAP1_uc002kmk.2_Missense_Mutation_p.R373K	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	373					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				ATAGCTTTCTCTCCGCGCAGC	0.507		NaN											0	0	0	0.01441	0	51	33				
KIAA0802	23255	broad.mit.edu	37	18	8824703	8824703	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:8824703G>A	uc002knr.2	+	15	3337	c.3195G>A	c.(3193-3195)GTG>GTA	p.V1065V	KIAA0802_uc002knq.2_Silent_p.V1024V|KIAA0802_uc002kns.2_Silent_p.V405V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1375											0						CCAGGGCGGTGTCCGTGTCCT	0.587		NaN											0	0	0	0.003163	0	15	8				
RALBP1	10928	broad.mit.edu	37	18	9522255	9522255	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:9522255G>A	uc002kob.2	+	4	1024	c.801G>A	c.(799-801)CTG>CTA	p.L267L	RALBP1_uc002koc.2_Silent_p.L267L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	267	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						CCAGTTTGCTGAAGCAGTATT	0.463		NaN											0	0	0	0.00499	0	16	53				
RBBP8	5932	broad.mit.edu	37	18	20606179	20606179	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20606179A>C	uc002ktw.2	+	19	3001	c.2670A>C	c.(2668-2670)CCA>CCC	p.P890P	RBBP8_uc002kty.2_Silent_p.P890P|RBBP8_uc002ktz.2_Missense_Mutation_p.Q858P|RBBP8_uc002kua.2_Silent_p.P895P|RBBP8_uc010xap.1_Silent_p.P228P	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	890					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TATTTTCTCCAAAAGGCAAGG	0.348		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.012213	0	30	21				
NPC1	4864	broad.mit.edu	37	18	21148935	21148935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21148935C>T	uc002kum.3	-	4	589	c.315G>A	c.(313-315)CTG>CTA	p.L105L	NPC1_uc010xba.1_5'UTR	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	105					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACAGGTTCAGTAGGTTAT	0.368		NaN											0	0	0	0.007413	0	20	50				
LAMA3	3909	broad.mit.edu	37	18	21479265	21479265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21479265G>C	uc002kuq.2	+	47	5936	c.5850G>C	c.(5848-5850)CAG>CAC	p.Q1950H	LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.Q341H|LAMA3_uc002kut.3_Intron	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1950	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTAAAGCAGATCTCTGGGA	0.458		NaN											0	0	0	0.013537	0	11	30				
TAF4B	6875	broad.mit.edu	37	18	23866219	23866219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:23866219C>T	uc002kvu.3	+	7	1835	c.1346C>T	c.(1345-1347)TCA>TTA	p.S449L	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S449L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	449					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCACGGTCTCACTGCAACCT	0.488		NaN											0	0	0	0.00333	0	25	37				
TTR	7276	broad.mit.edu	37	18	29171903	29171903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29171903G>A	uc002kwx.3	+	1	174	c.38G>A	c.(37-39)GGA>GAA	p.G13E		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	13					transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCTTGCTGGACTGGTATTT	0.493		NaN											0	0	0	0.006122	0	17	31				
KIAA1012	22878	broad.mit.edu	37	18	29419348	29419348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29419348C>T	uc002kxc.3	-	27	4274	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	KIAA1012_uc002kxb.3_Missense_Mutation_p.E1250K|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1304					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						GAAAGCTGCTCTACTGATGGC	0.348		NaN											0	0	0	0.004656	0	27	56				
RNF125	54941	broad.mit.edu	37	18	29617112	29617112	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29617112G>A	uc002kxf.1	+	2	580	c.198G>A	c.(196-198)AAG>AAA	p.K66K		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	66	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0						CCAGTCTAAAGAACAACAAGT	0.423		NaN											0	0	0	0.01441	0	83	147				
NOL4	8715	broad.mit.edu	37	18	31523073	31523073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:31523073C>T	uc010dmi.2	-	9	1727	c.1498G>A	c.(1498-1500)GAG>AAG	p.E500K	NOL4_uc010xbs.1_Missense_Mutation_p.E215K|NOL4_uc002kxr.3_Missense_Mutation_p.E272K|NOL4_uc010xbt.1_Missense_Mutation_p.E426K|NOL4_uc010dmh.2_Missense_Mutation_p.E362K|NOL4_uc010xbu.1_Missense_Mutation_p.E436K|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.E185K	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	500						nucleolus	RNA binding			ovary(3)	3						TTTCTACTCTCACTCTCACAA	0.428		NaN											0	0	0	0.010504	0	21	32				
DTNA	1837	broad.mit.edu	37	18	32391936	32391936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:32391936G>A	uc010dmn.1	+	5	463	c.462G>A	c.(460-462)ATG>ATA	p.M154I	DTNA_uc002kxu.2_Missense_Mutation_p.M154I|DTNA_uc010xbx.1_Missense_Mutation_p.M154I|DTNA_uc002kxv.3_Missense_Mutation_p.M154I|DTNA_uc002kxw.2_Missense_Mutation_p.M154I|DTNA_uc002kxx.2_Missense_Mutation_p.M154I|DTNA_uc010dmj.2_Missense_Mutation_p.M154I|DTNA_uc002kxz.2_Missense_Mutation_p.M154I|DTNA_uc002kxy.2_Missense_Mutation_p.M154I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M154I|DTNA_uc002kyb.3_Missense_Mutation_p.M154I|DTNA_uc010dmm.2_Missense_Mutation_p.M154I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	154	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						TTTTCTCAATGATTTCTGACT	0.368		NaN											0	0	0	0.00333	0	21	43				
ELP2	55250	broad.mit.edu	37	18	33722249	33722249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722249G>C	uc002kzk.1	+	7	604	c.594G>C	c.(592-594)CAG>CAC	p.Q198H	ELP2_uc010xcg.1_Missense_Mutation_p.Q263H|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.Q172H|ELP2_uc010xch.1_Missense_Mutation_p.Q237H|ELP2_uc002kzn.1_Missense_Mutation_p.Q172H|ELP2_uc002kzo.1_Intron	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	198	WD 4.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						ACTAGTTTCAGAAAGTGCTTT	0.398		NaN											0	0	0	0.008361	0	30	60				
ELP2	55250	broad.mit.edu	37	18	33722792	33722792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722792G>C	uc002kzk.1	+	8	669	c.659G>C	c.(658-660)AGA>ACA	p.R220T	ELP2_uc010xcg.1_Missense_Mutation_p.R285T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R194T|ELP2_uc010xch.1_Missense_Mutation_p.R259T|ELP2_uc002kzn.1_Missense_Mutation_p.R194T|ELP2_uc002kzo.1_Missense_Mutation_p.R150T	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	220	WD 5.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TAATTAGGTAGAGATCTTTTC	0.264		NaN											0	0	0	0.003954	0	23	45				
PSTPIP2	9050	broad.mit.edu	37	18	43571884	43571884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:43571884C>T	uc002lbp.3	-	12	1000	c.904G>A	c.(904-906)GGG>AGG	p.G302R	PSTPIP2_uc002lbq.3_Silent_p.Q269Q	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting	302						membrane				ovary(1)	1						AAGTTAGGCCCTGTAGCCTTT	0.408		NaN											0	0	0	0.004007	0	17	28				
ATP8B1	5205	broad.mit.edu	37	18	55362485	55362485	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55362485A>C	uc002lgw.2	-	9	858	c.858T>G	c.(856-858)TTT>TTG	p.F286L	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	286	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CATCCAAAGGAAAACTTGTGT	0.343		NaN							Byler_disease				0	0	0	0.012319	0	20	47				
ATP8B1	5205	broad.mit.edu	37	18	55368508	55368508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55368508G>A	uc002lgw.2	-	4	431	c.431C>T	c.(430-432)ACA>ATA	p.T144I	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	144	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GGGCACTAGTGTGGTGTACCA	0.463		NaN							Byler_disease				0	0	0	0.013537	0	12	27				
BCL2	596	broad.mit.edu	37	18	60985642	60985642	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:60985642G>A	uc002lit.1	-	2	751	c.258C>T	c.(256-258)CTC>CTT	p.L86L	BCL2_uc002liu.1_Silent_p.L86L|BCL2_uc002liv.1_Silent_p.L86L	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	86					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GCACCGGGCTGAGCGCAggcc	0.622		NaN	T	IGH@	NHL|CLL								0	0	0	0.004672	0	3	6				
SERPINB8	5271	broad.mit.edu	37	18	61647081	61647081	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:61647081C>T	uc002ljv.2	+	3	384	c.215C>T	c.(214-216)TCA>TTA	p.S72L	SERPINB8_uc002ljs.1_Missense_Mutation_p.S72L|SERPINB8_uc002ljt.2_Missense_Mutation_p.S72L|SERPINB8_uc002lju.2_Missense_Mutation_p.S72L|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	72					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGTTTCCAGTCACTTCTCAGT	0.428		NaN									OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	38	70				
RTTN	25914	broad.mit.edu	37	18	67715352	67715352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:67715352G>A	uc002lkp.2	-	40	5464	c.5396C>T	c.(5395-5397)TCT>TTT	p.S1799F	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S887F|RTTN_uc010dqp.2_Missense_Mutation_p.S51F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1799							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAAGAGAACAGAAAGGAATTG	0.448		NaN											0	0	0	0.008871	0	20	29				
CNDP2	55748	broad.mit.edu	37	18	72167257	72167257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:72167257C>T	uc002llm.1	+	2	211	c.49C>T	c.(49-51)CGC>TGC	p.R17C	CNDP2_uc002lln.1_Missense_Mutation_p.R17C|CNDP2_uc002llo.2_Missense_Mutation_p.R17C	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	17						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAATCAGGATCGCTACATTAA	0.428		NaN											0	0	0	0.013537	0	12	19				
NFATC1	4772	broad.mit.edu	37	18	77211716	77211716	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:77211716G>A	uc010xfg.1	+	6	2256	c.1803G>A	c.(1801-1803)CAG>CAA	p.Q601Q	NFATC1_uc002lnc.1_Silent_p.Q601Q|NFATC1_uc010xff.1_Missense_Mutation_p.R573K|NFATC1_uc002lnd.2_Silent_p.Q601Q|NFATC1_uc002lne.2_Silent_p.Q129Q|NFATC1_uc010xfh.1_Silent_p.Q601Q|NFATC1_uc010xfi.1_Silent_p.Q588Q|NFATC1_uc010xfj.1_Silent_p.Q129Q|NFATC1_uc002lnf.2_Silent_p.Q588Q|NFATC1_uc002lng.2_Silent_p.Q588Q|NFATC1_uc010xfk.1_Silent_p.Q588Q	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	601					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGAGAAGCAGAGCACGGACA	0.627		NaN											0	0	0	0.001855	0	13	21				
POLRMT	5442	broad.mit.edu	37	19	622259	622259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:622259C>T	uc002lpf.1	-	9	1797	c.1741G>A	c.(1741-1743)GAG>AAG	p.E581K		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	581					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCATCTCCGCCAGCAGC	0.672		NaN											0	0	0	0.009096	0	2	0				
POLR2E	5434	broad.mit.edu	37	19	1093966	1093966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1093966C>T	uc002lre.3	-	2	246	c.169G>A	c.(169-171)GAC>AAC	p.D57N	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	57					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGAGGTCCGTGCGCCGC	0.642		NaN											0	0	0	0.000602	0	5	13				
APC2	10297	broad.mit.edu	37	19	1453566	1453566	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1453566G>A	uc002lsr.1	+	4	577	c.369G>A	c.(367-369)CTG>CTA	p.L123L	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Silent_p.L123L|APC2_uc002lsu.1_Silent_p.L123L	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	123					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGGAGCTGAGCCGGGCCA	0.721		NaN											0	0	0	0.00308	0	8	14				
APC2	10297	broad.mit.edu	37	19	1461114	1461114	+	Missense_Mutation	SNP	G	G	T	rs146990856		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1461114G>T	uc002lsr.1	+	13	1808	c.1600G>T	c.(1600-1602)GTG>TTG	p.V534L	APC2_uc002lss.1_Missense_Mutation_p.V116L|APC2_uc002lst.1_Missense_Mutation_p.V534L|APC2_uc002lsu.1_Missense_Mutation_p.V533L|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	534	ARM 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGCAGCGTGACTGCCCT	0.647		NaN											1	0	0.000132079	0.008871	0.000134622	18	57				
ATP8B3	148229	broad.mit.edu	37	19	1785654	1785654	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1785654C>G	uc002ltw.2	-	26	3441	c.3207G>C	c.(3205-3207)CAG>CAC	p.Q1069H	ATP8B3_uc002ltv.2_Missense_Mutation_p.Q1032H|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1069	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCGTCCTTCTGCCCCACCA	0.607		NaN											0	0	0	0.013537	0	12	8				
DOT1L	84444	broad.mit.edu	37	19	2194543	2194543	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2194543G>A	uc002lvb.3	+	7	654	c.618G>A	c.(616-618)ATG>ATA	p.M206I		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	206						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTGGATGAAATGGTATG	0.313		NaN											0	0	0	0.007413	0	17	40		Valid		
DOT1L	84444	broad.mit.edu	37	19	2208972	2208972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2208972C>T	uc002lvb.3	+	12	1038	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCAAAACTCAGGGTAAGTT	0.443		NaN											0	0	0	0.004656	0	26	48				
ZNF555	148254	broad.mit.edu	37	19	2852793	2852793	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2852793A>G	uc002lwo.2	+	4	819	c.730A>G	c.(730-732)ACT>GCT	p.T244A	ZNF555_uc002lwn.3_Missense_Mutation_p.T243A	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	244	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAGTCTTACTAGTCATCT	0.423		NaN											0	0	0	0.006122	0	19	54				
AES	166	broad.mit.edu	37	19	3055693	3055693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3055693C>G	uc002lwy.1	-	5	439	c.266G>C	c.(265-267)TGT>TCT	p.C89S	AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.C89S|AES_uc002lxa.1_Missense_Mutation_p.C33S|AES_uc002lxb.1_Missense_Mutation_p.C156S|AES_uc002lxc.2_Missense_Mutation_p.C156S	NM_001130	NP_001121	Q08117	AES_HUMAN	amino-terminal enhancer of split isoform b	89	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTGGGCACAAATCCCGTT	0.642		NaN											0	0	0	0.001855	0	12	27				
GIPC3	126326	broad.mit.edu	37	19	3586625	3586625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3586625G>A	uc002lyd.3	+	2	385	c.358G>A	c.(358-360)GAT>AAT	p.D120N		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	120	PDZ.									breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGACAGAGGATGCTCTGGG	0.632		NaN									OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	18	92				
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	A	rs144975421	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3964647G>A	uc002lzc.1	-	2	498	c.405C>T	c.(403-405)ATC>ATT	p.I135I	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.I135I	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642		NaN											0	0	0	0.014323	0	20	59				
CREB3L3	84699	broad.mit.edu	37	19	4164618	4164618	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4164618C>T	uc002lzl.2	+	5	811	c.695C>T	c.(694-696)ACT>ATT	p.T232I	CREB3L3_uc002lzm.2_Missense_Mutation_p.T222I|CREB3L3_uc010xib.1_Missense_Mutation_p.T221I|CREB3L3_uc010xic.1_Missense_Mutation_p.T223I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	232	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGCCCACTCAGCTGCCC	0.582		NaN											0	0	0	0.008871	0	20	26				
SHD	56961	broad.mit.edu	37	19	4288274	4288274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288274G>A	uc002lzw.2	+	5	2214	c.751G>A	c.(751-753)GAG>AAG	p.E251K	SHD_uc010dtu.2_Intron	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	251	SH2.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGATGCAGAGAGCCTCCT	0.557		NaN											0	0	0	0.004007	0	16	42				
SHD	56961	broad.mit.edu	37	19	4288325	4288325	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288325G>A	uc002lzw.2	+	5	2265	c.802G>A	c.(802-804)GAG>AAG	p.E268K	SHD_uc010dtu.2_Intron	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	268	SH2.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTCAGTGAGACCAACCC	0.572		NaN											0	0	0	0.004482	0	8	26				
ACSBG2	81616	broad.mit.edu	37	19	6187358	6187358	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6187358G>A	uc002mef.1	+	12	1832	c.1605G>A	c.(1603-1605)AAG>AAA	p.K535K	ACSBG2_uc002mee.1_Silent_p.K348K|ACSBG2_uc002meg.1_Silent_p.K535K|ACSBG2_uc002meh.1_Silent_p.K535K|ACSBG2_uc002mei.1_Silent_p.K485K|ACSBG2_uc010xiz.1_Silent_p.K535K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	535					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGGTTAAGAAGAAGATCCCCA	0.468		NaN											0	0	0	0.00333	0	19	80				
ACER1	125981	broad.mit.edu	37	19	6306799	6306799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6306799G>A	uc002mel.2	-	6	799	c.721C>T	c.(721-723)CGC>TGC	p.R241C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	241	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						GGCCAGTAGCGGACTTTGAGG	0.572		NaN											0	0	0	0.008291	0	11	37				
CLPP	8192	broad.mit.edu	37	19	6364487	6364487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6364487C>T	uc002mem.1	+	4	515	c.392C>T	c.(391-393)GCC>GTC	p.A131V	CLPP_uc002men.1_5'Flank	NM_006012	NP_006003	Q16740	CLPP_HUMAN	caseinolytic peptidase, ATP-dependent,	131					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			ovary(1)	1						GCGGGCCTGGCCATCTACGAC	0.667		NaN											0	0	0	0.000602	0	4	9				
TRIP10	9322	broad.mit.edu	37	19	6746547	6746547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6746547G>C	uc002mfs.2	+	11	1303	c.1237G>C	c.(1237-1239)GAA>CAA	p.E413Q	TRIP10_uc010dux.1_Missense_Mutation_p.E357Q|TRIP10_uc002mfr.2_Missense_Mutation_p.E357Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.E176Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	413	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						ACGCAGTCGTGAACTTCAGAA	0.478		NaN											0	0	0	0.001984	0	7	14				
VAV1	7409	broad.mit.edu	37	19	6829860	6829860	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6829860C>T	uc002mfu.1	+	14	1426	c.1329C>T	c.(1327-1329)CTC>CTT	p.L443L	VAV1_uc010xjh.1_Silent_p.L411L|VAV1_uc010dva.1_Silent_p.L443L|VAV1_uc002mfv.1_Silent_p.L388L	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	443	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCTATGACCTCAAGGACTTTG	0.532		NaN											0	0	0	0.00333	0	23	86				
INSR	3643	broad.mit.edu	37	19	7152923	7152923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7152923G>A	uc002mgd.1	-	10	2154	c.2045C>T	c.(2044-2046)TCG>TTG	p.S682L	INSR_uc002mge.1_Missense_Mutation_p.S682L|INSR_uc002mgf.2_Missense_Mutation_p.S682L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	682	Fibronectin type-III 1.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGTCCTCGAGGGCAGCTT	0.438		NaN											0	0	0	0.014323	0	22	49				
INSR	3643	broad.mit.edu	37	19	7184523	7184523	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7184523G>A	uc002mgd.1	-	3	887	c.778C>T	c.(778-780)CTG>TTG	p.L260L	INSR_uc002mge.1_Silent_p.L260L|INSR_uc002mgf.2_Silent_p.L260L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	260	Cys-rich.		L -> P (in LEPRCH; Geldeimalsen).		activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCGTCCAGGTAGAAGTTG	0.637		NaN											0	0	0	0.009096	0	3	13				
ARHGEF18	23370	broad.mit.edu	37	19	7531822	7531822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7531822G>A	uc002mgi.2	+	14	2612	c.2359G>A	c.(2359-2361)GAA>AAA	p.E787K	ARHGEF18_uc010xjm.1_Missense_Mutation_p.E629K|ARHGEF18_uc002mgh.2_Missense_Mutation_p.E629K|ARHGEF18_uc002mgj.1_Missense_Mutation_p.E430K	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	787					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GCCAGGCACGGAATCCGATCC	0.632		NaN											0	0	0	0.008291	0	10	57				
C19orf59	199675	broad.mit.edu	37	19	7743014	7743014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7743014C>G	uc002mhh.1	+	3	234	c.209C>G	c.(208-210)TCA>TGA	p.S70*	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	mast cell-expressed membrane protein 1	70	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						AGGCCGCCCTCAGACTCCACC	0.597		NaN									OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	44	137				
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9325375G>C	uc002mla.1	-	1	139	c.139C>G	c.(139-141)CTG>GTG	p.L47V		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CTGACGGCCAGAATGATGAGC	0.557		NaN											0	0	0	0.00245	0	14	56				
ZNF121	7675	broad.mit.edu	37	19	9677729	9677729	+	Silent	SNP	G	G	A	rs149905678		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9677729G>A	uc010xkp.1	-	4	292	c.60C>T	c.(58-60)TTC>TTT	p.F20F	ZNF121_uc010dwt.2_Silent_p.F20F|ZNF121_uc010xkq.1_Silent_p.F20F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTTCACTGAAGATTTCTC	0.383		NaN											0	0	0	0.014323	0	22	58				
ZNF562	54811	broad.mit.edu	37	19	9763894	9763894	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9763894G>C	uc010xks.1	-	6	1175	c.1012C>G	c.(1012-1014)CAC>GAC	p.H338D	ZNF562_uc002mly.2_Missense_Mutation_p.H338D|ZNF562_uc002mlx.2_Missense_Mutation_p.H266D|ZNF562_uc010xkt.1_Missense_Mutation_p.H301D|ZNF562_uc010xku.1_Missense_Mutation_p.H269D|ZNF562_uc010xkv.1_Missense_Mutation_p.H337D|ZNF562_uc010xkw.1_Missense_Mutation_p.H222D	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	338	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCCAGTGTGAGTTCTTACA	0.418		NaN											0	0	0	0.005524	0	37	127				
TYK2	7297	broad.mit.edu	37	19	10488945	10488945	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10488945G>A	uc002moc.3	-	3	516	c.138C>T	c.(136-138)TTC>TTT	p.F46F	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	46	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGACTCACTGAAAGTGACCC	0.622		NaN											0	0	0	0.006122	0	16	28				
PDE4A	5141	broad.mit.edu	37	19	10571772	10571772	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10571772C>T	uc002moj.2	+	11	1566	c.1458C>T	c.(1456-1458)ATC>ATT	p.I486I	PDE4A_uc002mok.2_Silent_p.I460I|PDE4A_uc002mol.2_Silent_p.I425I|PDE4A_uc002mom.2_Silent_p.I247I|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Silent_p.I152I	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	486	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGTTCCTCATCAACACCAGTG	0.647		NaN											0	0	0	0.001168	0	6	32				
CDKN2D	1032	broad.mit.edu	37	19	10677925	10677925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10677925C>T	uc002mpa.2	-	2	612	c.310G>A	c.(310-312)GAT>AAT	p.D104N	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Missense_Mutation_p.D104N	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	104					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding				0			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCGGTGCCATCAGGCACGTTG	0.597		NaN							Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				0	0	0	0.004878	0	39	105				
ILF3	3609	broad.mit.edu	37	19	10793282	10793282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793282G>A	uc002mpn.2	+	13	1767	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	484					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGACTCGGCTGAGGAGACCGA	0.647		NaN											0	0	0	0.008291	0	10	19				
ILF3	3609	broad.mit.edu	37	19	10793285	10793285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793285G>A	uc002mpn.2	+	13	1770	c.1453G>A	c.(1453-1455)GAG>AAG	p.E485K	ILF3_uc002mpm.2_Missense_Mutation_p.E485K|ILF3_uc002mpl.2_Missense_Mutation_p.E485K|ILF3_uc002mpk.2_Missense_Mutation_p.E485K|ILF3_uc010xli.1_Missense_Mutation_p.E83K|ILF3_uc002mpo.2_Missense_Mutation_p.E485K|ILF3_uc002mpp.2_Missense_Mutation_p.E306K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	485					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTCGGCTGAGGAGACCGAGGC	0.647		NaN											0	0	0	0.008291	0	10	19				
ILF3	3609	broad.mit.edu	37	19	10793287	10793287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793287G>A	uc002mpn.2	+	13	1772	c.1455G>A	c.(1453-1455)GAG>GAA	p.E485E	ILF3_uc002mpm.2_Silent_p.E485E|ILF3_uc002mpl.2_Silent_p.E485E|ILF3_uc002mpk.2_Silent_p.E485E|ILF3_uc010xli.1_Silent_p.E83E|ILF3_uc002mpo.2_Silent_p.E485E|ILF3_uc002mpp.2_Silent_p.E306E	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	485					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGGCTGAGGAGACCGAGGCGA	0.647		NaN											0	0	0	0.008291	0	10	19				
C19orf52	90580	broad.mit.edu	37	19	11040318	11040318	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11040318G>A	uc002mqd.1	+	2	798	c.723G>A	c.(721-723)AAG>AAA	p.K241K	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	241											0						AGAAGGAGAAGAAGGACAGGC	0.637		NaN											0	0	0	0.003163	0	15	11				
EPOR	2057	broad.mit.edu	37	19	11493835	11493835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11493835G>A	uc002mrj.1	-	2	325	c.189C>T	c.(187-189)TTC>TTT	p.F63F	EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_5'UTR|EPOR_uc002mrk.1_5'UTR|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_5'UTR|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	63	Extracellular (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTTCCTCCCAGAAACACACCA	0.682		NaN											0	0	0	0.001984	0	7	21				
CCDC151	115948	broad.mit.edu	37	19	11541826	11541826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11541826C>T	uc002mrs.2	-	2	402	c.259G>A	c.(259-261)GCT>ACT	p.A87T	CCDC151_uc002mrr.2_Missense_Mutation_p.A22T|CCDC151_uc010dxz.2_Missense_Mutation_p.A87T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	87										ovary(1)	1						TCAAAAAAAGCCTTCCGGTCA	0.522		NaN											0	0	0	0.012213	0	31	132				
ACP5	54	broad.mit.edu	37	19	11687879	11687879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11687879C>G	uc002msg.3	-	2	400	c.254G>C	c.(253-255)AGG>ACG	p.R85T	ACP5_uc002msh.3_Missense_Mutation_p.R85T|ACP5_uc002msi.3_Missense_Mutation_p.R85T|ACP5_uc002msj.3_Missense_Mutation_p.R85T|ACP5_uc010dye.1_Missense_Mutation_p.R85T	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	85					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						GACCTGGAACCTCTTGTCATT	0.562		NaN											0	0	0	0.010729	0	10	39				
HOOK2	29911	broad.mit.edu	37	19	12885514	12885514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12885514G>A	uc002muy.2	-	3	344	c.173C>T	c.(172-174)TCG>TTG	p.S58L	HOOK2_uc002muz.2_Missense_Mutation_p.S58L|HOOK2_uc002mva.2_Missense_Mutation_p.S58L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	58	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						TGGATCTTCCGAGATGCCCTG	0.587		NaN											0	0	0	0.00499	0	15	28				
MAST1	22983	broad.mit.edu	37	19	12958498	12958498	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12958498G>A	uc002mvm.2	+	6	689	c.561G>A	c.(559-561)CCG>CCA	p.P187P	MAST1_uc002mvk.2_Silent_p.P183P|MAST1_uc002mvl.2_3'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	187					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AGAGGTTCCCGAAGGTGAGGT	0.672		NaN									OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	11	18				
NACC1	112939	broad.mit.edu	37	19	13246852	13246852	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13246852C>T	uc002mwm.2	+	2	999	c.831C>T	c.(829-831)TCC>TCT	p.S277S		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	277					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						GCCCTGGCTCCTACCACAATG	0.627		NaN											0	0	0	0.00499	0	14	12				
IER2	9592	broad.mit.edu	37	19	13264058	13264058	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13264058C>T	uc002mwr.2	+	2	386	c.58C>T	c.(58-60)CAC>TAC	p.H20Y		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	20										kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GAAGATGTATCACTCCCGCAT	0.667		NaN									OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	5				
CACNA1A	773	broad.mit.edu	37	19	13325339	13325339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13325339C>G	uc010dze.2	-	39	6054	c.5818G>C	c.(5818-5820)GAC>CAC	p.D1940H	CACNA1A_uc010xnd.1_Missense_Mutation_p.D645H|CACNA1A_uc002mwx.3_Missense_Mutation_p.D645H|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1465H|CACNA1A_uc002mwy.3_Missense_Mutation_p.D1939H|CACNA1A_uc002mwv.3_Missense_Mutation_p.D456H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1940	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACCAGCAGGTCTAGCGTCTTC	0.597		NaN											0	0	0	0.004482	0	8	12				
CACNA1A	773	broad.mit.edu	37	19	13470507	13470507	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13470507C>T	uc010dze.2	-	6	1127	c.891G>A	c.(889-891)GGG>GGA	p.G297G	CACNA1A_uc002mwy.3_Silent_p.G297G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	297	I.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTGAGTGATCCCGTTGTTGG	0.547		NaN											0	0	0	0.004672	0	3	8				
CD97	976	broad.mit.edu	37	19	14507162	14507162	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14507162G>A	uc002myl.2	+	5	478	c.355G>A	c.(355-357)GAA>AAA	p.E119K	CD97_uc002mym.2_Missense_Mutation_p.E119K|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	119	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						AGATGTGGACGAATGTCAGCA	0.562		NaN											0	0	0	0.00278	0	25	81				
OR7A17	26333	broad.mit.edu	37	19	14991344	14991344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14991344G>A	uc010xob.1	-	1	824	c.824C>T	c.(823-825)TCA>TTA	p.S275L		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					GTACATCACTGAGGCTGTTGC	0.473		NaN											0	0	0	0.005443	0	27	74				
CYP4F22	126410	broad.mit.edu	37	19	15648197	15648197	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:15648197C>T	uc002nbh.3	+	5	560	c.393C>T	c.(391-393)CTC>CTT	p.L131L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	131						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						AGGATGACCTCTTCTATGGCT	0.453		NaN											0	0	0	0.00333	0	20	72				
EPS15L1	58513	broad.mit.edu	37	19	16535906	16535906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:16535906G>A	uc002ndz.1	-	9	786	c.780C>T	c.(778-780)CTC>CTT	p.L260L	EPS15L1_uc002ndx.2_Silent_p.L260L|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.L150L|EPS15L1_uc010xpf.1_Silent_p.L163L|EPS15L1_uc002nea.1_Silent_p.L260L|EPS15L1_uc010eah.1_Silent_p.L260L|EPS15L1_uc002neb.1_Silent_p.L106L|EPS15L1_uc002nec.1_Silent_p.L260L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	260					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						GTGTTTGCTTGAGGCTGTGCT	0.622		NaN											0	0	0	0.00499	0	16	60				
OCEL1	79629	broad.mit.edu	37	19	17339098	17339098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17339098G>T	uc002nfp.2	+	5	654	c.652G>T	c.(652-654)GAG>TAG	p.E218*		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	218										central_nervous_system(1)	1						GGTTTGGAGGGAGTTTGAGAT	0.493		NaN											1	0	7.11191e-15	0.013726	7.46269e-15	35	90				
USHBP1	83878	broad.mit.edu	37	19	17375060	17375060	+	Missense_Mutation	SNP	G	G	A	rs149022063	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17375060G>A	uc002nfs.1	-	2	162	c.49C>T	c.(49-51)CCA>TCA	p.P17S	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L2L|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	17							PDZ domain binding			ovary(1)	1						CTTACGGGTGGAGCATGCCTC	0.652		NaN											0	0	0	0.000602	0	4	21				
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17476312G>A	uc002ngk.1	-	3	1012	c.962C>T	c.(961-963)GCG>GTG	p.A321V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTTCTGTTTCGCCTCCTGACT	0.667		NaN											0	0	0	0.004482	0	9	33				
SLC27A1	376497	broad.mit.edu	37	19	17608118	17608118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17608118G>A	uc002ngu.1	+	7	1101	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K	SLC27A1_uc002ngt.1_Missense_Mutation_p.E83K|SLC27A1_uc010xpp.1_Missense_Mutation_p.E172K|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	351	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GCCGGTGCGCGAGGCGGAGAG	0.687		NaN											0	0	0	0.001984	0	3	10				
JAK3	3718	broad.mit.edu	37	19	17942579	17942579	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17942579C>T	uc002nhn.3	-	20	2809	c.2709G>A	c.(2707-2709)GAG>GAA	p.E903E	JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.E903E	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	903	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						TGGGCAGGTACTCCATGACCA	0.662		2	Mis		acute megakaryocytic leukemia|								0	0	0	0.004482	0	7	16				
NCAN	1463	broad.mit.edu	37	19	19359535	19359535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19359535G>T	uc002nlz.2	+	14	3763	c.3664G>T	c.(3664-3666)GAG>TAG	p.E1222*	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1222	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TCCGGCAGTGGAGAATGCCTC	0.498		NaN											1	0	2.0095e-06	0.001984	2.05981e-06	7	24				
SF4	57794	broad.mit.edu	37	19	19420949	19420949	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19420949G>A	uc002nmh.2	-	3	269	c.267C>T	c.(265-267)TTC>TTT	p.F89F	SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_Intron|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	89					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						ACTGCTGCAAGAAGCTACCAT	0.517		NaN											0	0	0	0.004007	0	15	65				
PBX4	80714	broad.mit.edu	37	19	19675894	19675894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19675894G>A	uc002nmy.2	-	6	774	c.773C>T	c.(772-774)TCT>TTT	p.S258F	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.S93F	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	258	Homeobox; TALE-type.						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AAACCAGTTAGAGACCTGCGG	0.532		NaN											0	0	0	0.01441	0	123	129				
ZNF493	284443	broad.mit.edu	37	19	21607496	21607496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21607496C>G	uc002npx.2	+	2	1931	c.1651C>G	c.(1651-1653)CAT>GAT	p.H551D	ZNF493_uc002npw.2_Missense_Mutation_p.H679D|ZNF493_uc002npy.2_Missense_Mutation_p.H551D	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	551	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAAGATAATTCATACTGAAGA	0.348		NaN											0	0	0	0.001984	0	7	36				
ZNF429	353088	broad.mit.edu	37	19	21719352	21719352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21719352G>C	uc002nqd.1	+	4	634	c.497G>C	c.(496-498)AGA>ACA	p.R166T	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	166	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TACAAGACAAGACATACTGGA	0.313		NaN											0	0	0	0.001984	0	7	54				
ZNF676	163223	broad.mit.edu	37	19	22364107	22364107	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:22364107C>T	uc002nqs.1	-	3	730	c.412G>A	c.(412-414)GAG>AAG	p.E138K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAACCTTTCTCTCCAGTATGC	0.318		NaN											0	0	0	0.014323	0	21	105				
ZNF254	9534	broad.mit.edu	37	19	24309428	24309428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:24309428C>T	uc002nru.2	+	4	760	c.626C>T	c.(625-627)TCC>TTC	p.S209F	ZNF254_uc010xrk.1_Missense_Mutation_p.S124F	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	209					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAGAGAAGTCCTACAAATGT	0.303		NaN											0	0	0	0.012319	0	21	66				
ZNF507	22847	broad.mit.edu	37	19	32845546	32845546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:32845546G>A	uc002nte.2	+	3	2082	c.1810G>A	c.(1810-1812)GAC>AAC	p.D604N	ZNF507_uc002ntc.2_Missense_Mutation_p.D604N|ZNF507_uc010xrn.1_Missense_Mutation_p.D604N|ZNF507_uc002ntd.2_Missense_Mutation_p.D604N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					AAACGCTTCAGACGATGACAT	0.468		NaN											0	0	0	0.001984	0	6	41				
C19orf40	91442	broad.mit.edu	37	19	33467474	33467474	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33467474C>T	uc002nud.3	+	5	652	c.534C>T	c.(532-534)CTC>CTT	p.L178L		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	178	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					CCCTTCTCCTCCAGAAGTTTC	0.542		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	29	114				
GPATCH1	55094	broad.mit.edu	37	19	33579137	33579137	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33579137C>T	uc002nug.1	+	2	485	c.171C>T	c.(169-171)TTC>TTT	p.F57F		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	57						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					GTGGAGGTTTCTCTGCTGGAT	0.383		NaN											0	0	0	0.007291	0	26	59				
ZNF302	55900	broad.mit.edu	37	19	35175770	35175770	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35175770G>A	uc002nvr.1	+	6	1223	c.960G>A	c.(958-960)CAG>CAA	p.Q320Q	ZNF302_uc002nvp.1_Silent_p.Q276Q|ZNF302_uc002nvq.1_Silent_p.Q276Q|ZNF302_uc002nvs.1_Silent_p.Q276Q	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	355	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAACCATCAGAGCACTCACA	0.438		NaN											0	0	0	0.008871	0	18	68				
ZNF792	126375	broad.mit.edu	37	19	35451187	35451187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35451187C>T	uc002nxh.1	-	3	622	c.235G>A	c.(235-237)GAT>AAT	p.D79N		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGTCATATCCACACTGTCA	0.537		NaN											0	0	0	0.008291	0	7	35				
GRAMD1A	57655	broad.mit.edu	37	19	35512680	35512680	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35512680G>A	uc010xse.1	+	15	1802	c.1665G>A	c.(1663-1665)CGG>CGA	p.R555R	GRAMD1A_uc002nxk.2_Silent_p.R548R|GRAMD1A_uc002nxl.2_Silent_p.R321R|GRAMD1A_uc010xsf.1_Silent_p.R560R|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.R170R	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	555						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCGGCGGCGGAAGCGGCCCC	0.682		NaN											0	0	0	0.004482	0	7	17				
ARHGAP33	115703	broad.mit.edu	37	19	36278895	36278895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36278895C>T	uc002obs.1	+	21	3030	c.2945C>T	c.(2944-2946)TCC>TTC	p.S982F	ARHGAP33_uc002obt.1_Missense_Mutation_p.S979F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S731F	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1143					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCAGCCCCCTCCTGCTTTCCC	0.667		NaN											0	0	0	0.004672	0	3	8				
WDR62	284403	broad.mit.edu	37	19	36590419	36590419	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36590419A>G	uc002odc.2	+	22	2730	c.2639A>G	c.(2638-2640)CAG>CGG	p.Q880R	WDR62_uc002odd.2_Missense_Mutation_p.Q880R	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	880					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGATGCCCAGGACCTGGAT	0.632		NaN											0	0	0	0.010818	0	33	47				
ZNF565	147929	broad.mit.edu	37	19	36673778	36673778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36673778C>T	uc002odn.2	-	5	1198	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	ZNF565_uc010ees.2_Missense_Mutation_p.E299K|ZNF565_uc002odo.2_Missense_Mutation_p.E364K	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	364	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCTTACACTCATAGGGTTTC	0.488		NaN											0	0	0	0.012213	0	30	71				
SIPA1L3	23094	broad.mit.edu	37	19	38597188	38597188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:38597188G>A	uc002ohk.2	+	7	2550	c.2041G>A	c.(2041-2043)GGA>AGA	p.G681R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	681	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGACTCCACGGGAACCCACTC	0.413		NaN											0	0	0	0.010729	0	8	103				
IL28B	282617	broad.mit.edu	37	19	39734518	39734518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734518C>G	uc010xut.1	-	4	442	c.438G>C	c.(436-438)AGG>AGC	p.R146S	IL28B_uc010xuu.1_Missense_Mutation_p.R146S	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	146					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCCCGGGTCCTGGGCCCTG	0.687		NaN											0	0	0	0.013537	0	6	8				
IL28B	282617	broad.mit.edu	37	19	39734756	39734756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734756C>T	uc010xut.1	-	3	304	c.300G>A	c.(298-300)CTG>CTA	p.L100L	IL28B_uc010xuu.1_Silent_p.L100L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	100					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCTTCAGCGTCAGGGCCAGCT	0.473		NaN											0	0	0	0.007413	0	18	21				
SAMD4B	55095	broad.mit.edu	37	19	39868130	39868130	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39868130G>A	uc002olb.2	+	10	2145	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	SAMD4B_uc002ola.2_Silent_p.V370V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	370	SAM.						protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGGATGTGCTGGAAGGCG	0.582		NaN											0	0	0	0.006122	0	17	58				
RPS16	6217	broad.mit.edu	37	19	39926340	39926340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39926340C>T	uc002olk.2	-	2	140	c.57G>A	c.(55-57)GCG>GCA	p.A19A	RPS16_uc002oll.2_Silent_p.A19A|RPS16_uc002olm.2_Silent_p.A19A	NM_001020	NP_001011	P62249	RS16_HUMAN	ribosomal protein S16	19					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			skin(1)	1	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACAGCTGTCGCTGTCTTCT	0.602		NaN											0	0	0	0.000602	0	4	31				
SUPT5H	6829	broad.mit.edu	37	19	39965239	39965239	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39965239G>T	uc002olo.3	+	28	3084	c.2905G>T	c.(2905-2907)GGC>TGC	p.G969C	SUPT5H_uc002olp.3_Missense_Mutation_p.G969C|SUPT5H_uc002olq.3_Missense_Mutation_p.G965C|SUPT5H_uc002oln.3_Missense_Mutation_p.G969C|SUPT5H_uc002olr.3_Missense_Mutation_p.G969C|SUPT5H_uc002ols.1_Missense_Mutation_p.G592C	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	969					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACACGCCAGGCTCAGGCAT	0.617		NaN									OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.51602e-12	0.008871	3.67699e-12	19	31				
LGALS13	29124	broad.mit.edu	37	19	40097960	40097960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40097960C>T	uc002omb.2	+	4	441	c.401C>T	c.(400-402)TCA>TTA	p.S134L		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13	134	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCCCTGACCTCAGTGTGTGTC	0.463		NaN											0	0	0	0.009718	0	42	53				
FCGBP	8857	broad.mit.edu	37	19	40433739	40433739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40433739G>A	uc002omp.3	-	2	538	c.530C>T	c.(529-531)TCA>TTA	p.S177L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	177	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATGTCACTGACCCCTTCAG	0.577		NaN											0	0	0	0.01441	0	52	60				
ZNF780B	163131	broad.mit.edu	37	19	40542198	40542198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542198C>T	uc002omu.2	-	5	633	c.568G>A	c.(568-570)GAG>AAG	p.E190K	ZNF780B_uc002omv.2_Missense_Mutation_p.E42K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGGTTTCTCTCCAGTATGA	0.338		NaN											0	0	0	0.001855	0	13	102				
ZNF780B	163131	broad.mit.edu	37	19	40542207	40542207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542207G>A	uc002omu.2	-	5	624	c.559C>T	c.(559-561)CAT>TAT	p.H187Y	ZNF780B_uc002omv.2_Missense_Mutation_p.H39Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	187	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTCCAGTATGAATACTCTGA	0.348		NaN											0	0	0	0.00245	0	14	102				
MAP3K10	4294	broad.mit.edu	37	19	40715101	40715101	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40715101C>T	uc002ona.2	+	6	1815	c.1527C>T	c.(1525-1527)ATC>ATT	p.I509I	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	509					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GCCCCAGCATCATCCCCCGGC	0.468		NaN											0	0	0	0.005524	0	35	52				
SERTAD3	29946	broad.mit.edu	37	19	40947819	40947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40947819G>A	uc002onu.3	-	2	447	c.169C>T	c.(169-171)CTC>TTC	p.L57F	SERTAD3_uc002onv.3_Missense_Mutation_p.L57F	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	57	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTATGGATGAGGACATGCCTG	0.662		NaN											0	0	0	0.001168	0	5	11				
SPTBN4	57731	broad.mit.edu	37	19	41008759	41008759	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41008759G>A	uc002ony.2	+	11	1367	c.1281G>A	c.(1279-1281)CTG>CTA	p.L427L	SPTBN4_uc002onx.2_Silent_p.L427L|SPTBN4_uc002onz.2_Silent_p.L427L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	427					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGAAGCTGGAACTACTGG	0.597		NaN											0	0	0	0.01441	0	50	70				
SHKBP1	92799	broad.mit.edu	37	19	41088265	41088265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41088265C>T	uc002oob.2	+	10	902	c.853C>T	c.(853-855)CAT>TAT	p.H285Y	SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Missense_Mutation_p.H285Y|SHKBP1_uc010xvl.1_Missense_Mutation_p.H208Y|SHKBP1_uc002ooe.2_Missense_Mutation_p.H122Y|SHKBP1_uc002oof.2_Missense_Mutation_p.H122Y|SHKBP1_uc010xvm.1_Missense_Mutation_p.H122Y|SHKBP1_uc010xvn.1_Missense_Mutation_p.H163Y	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	285	WD 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGGTCTTTCATCTGGGGGT	0.597		NaN											0	0	0	0.014323	0	23	92				
LTBP4	8425	broad.mit.edu	37	19	41117097	41117097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41117097G>A	uc002ooh.1	+	16	2051	c.2051G>A	c.(2050-2052)CGA>CAA	p.R684Q	LTBP4_uc002oog.1_Missense_Mutation_p.R647Q|LTBP4_uc002ooi.1_Missense_Mutation_p.R617Q|LTBP4_uc002ooj.1_Intron|LTBP4_uc010xvo.1_Intron|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	684	Cys-rich.|EGF-like 6; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGTGGCCGAGGGGCCTGC	0.647		NaN											0	0	0	0.001168	0	6	35				
LTBP4	8425	broad.mit.edu	37	19	41118028	41118028	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41118028G>A	uc002ooh.1	+	18	2430	c.2430G>A	c.(2428-2430)GTG>GTA	p.V810V	LTBP4_uc002oog.1_Silent_p.V773V|LTBP4_uc002ooi.1_Silent_p.V743V|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Silent_p.V98V|LTBP4_uc010ehb.1_Silent_p.V30V|LTBP4_uc002ook.1_Silent_p.V30V|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	810	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGTGTGTGAACTCGCCCG	0.637		NaN											0	0	0	0.001168	0	4	15				
CYP2A6	1548	broad.mit.edu	37	19	41349839	41349839	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41349839G>A	uc002opl.3	-	9	1368	c.1347C>T	c.(1345-1347)CTC>CTT	p.L449L		NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	449					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AGAAGAGAAAGAGCTCCATTC	0.587		NaN											0	0	0	0.003163	0	9	55				
GRIK5	2901	broad.mit.edu	37	19	42557979	42557979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42557979C>T	uc002osj.1	-	9	1194	c.1159G>A	c.(1159-1161)GAG>AAG	p.E387K	GRIK5_uc010eib.1_Missense_Mutation_p.E306K	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	387	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGCTCACCTCACGGTGGCCC	0.647		NaN											0	0	0	0.001168	0	4	28				
ZNF574	64763	broad.mit.edu	37	19	42584118	42584118	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42584118G>C	uc002osm.3	+	2	1529	c.1360G>C	c.(1360-1362)GAG>CAG	p.E454Q	ZNF574_uc002osk.3_Missense_Mutation_p.E544Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CCCTGTGTCTGAGGAGACCTC	0.637		NaN											0	0	0	0.004289	0	38	40				
TMEM145	284339	broad.mit.edu	37	19	42827892	42827892	+	Missense_Mutation	SNP	C	C	G	rs149140216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42827892C>G	uc002otk.1	+	14	1404	c.1352C>G	c.(1351-1353)TCG>TGG	p.S451W	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	451						integral to membrane					0		Prostate(69;0.00682)				ATCAGCGACTCGGTGCCCAAC	0.682		NaN											0	0	0	0.010729	0	11	46				
MEGF8	1954	broad.mit.edu	37	19	42854308	42854308	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42854308C>T	uc002otl.3	+	14	2942	c.2307C>T	c.(2305-2307)TCC>TCT	p.S769S	MEGF8_uc002otm.3_Silent_p.S377S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	836	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				AGGAGATCTCCTTCTTCTTCC	0.607		NaN											0	0	0	0.003163	0	15	86				
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42930623C>G	uc002otr.2	-	1	956	c.679G>C	c.(679-681)GAG>CAG	p.E227Q	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	227					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493		NaN											0	0	0	0.01441	0	46	131				
PSG7	5676	broad.mit.edu	37	19	43428961	43428961	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43428961C>T	uc002ovl.3	-	7	1361	c.1259G>A	c.(1258-1260)TGA>TAA	p.*420*	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.*298*	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	420					female pregnancy	extracellular region					0		Prostate(69;0.00682)				tagtagaattcagggtaatgt	0		NaN											0	0	0	0.008871	0	20	83				
CD177	57126	broad.mit.edu	37	19	43866321	43866321	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43866321G>T	uc002owi.2	+	10	1205	c.1163G>T	c.(1162-1164)GGG>GTG	p.G388V	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	388					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				AGACAAATCGGGATCTTCTCT	0.592		NaN											1	0	1.76689e-08	0.006214	1.82753e-08	8	79				
LYPD5	284348	broad.mit.edu	37	19	44302740	44302740	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44302740C>T	uc002oxm.3	-	4	465	c.384G>A	c.(382-384)CCG>CCA	p.P128P	LYPD5_uc002oxn.3_Silent_p.P85P	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5 isoform A	128						anchored to membrane|plasma membrane					0		Prostate(69;0.0352)				CGCTGAGCGTCGGCGGGTCGG	0.677		NaN											0	0	0	0.008291	0	11	50				
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44351438C>T	uc002oxr.3	+	7	953	c.685C>T	c.(685-687)CAT>TAT	p.H229Y	ZNF283_uc002oxp.3_Missense_Mutation_p.H90Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368		NaN											0	0	0	0.005524	0	37	64				
ZNF230	7773	broad.mit.edu	37	19	44514653	44514653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44514653C>G	uc002oyb.1	+	5	713	c.462C>G	c.(460-462)ATC>ATG	p.I154M		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	154	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				ATGTTGCCATCTTTGATCCTC	0.448		NaN											0	0	0	0.010818	0	33	146				
ZNF284	342909	broad.mit.edu	37	19	44585289	44585289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44585289C>T	uc002oyg.1	+	3	353	c.137C>T	c.(136-138)TCA>TTA	p.S46L	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				AACCTGCTATCAGTGGGTGAG	0.468		NaN											0	0	0	0.013114	0	48	83				
ZNF226	7769	broad.mit.edu	37	19	44676255	44676255	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44676255C>T	uc002oyp.2	+	4	174	c.30C>T	c.(28-30)TTC>TTT	p.F10F	ZNF226_uc002oyn.2_Silent_p.F10F|ZNF226_uc002oyo.2_Silent_p.F10F|ZNF226_uc002oyq.2_5'UTR|ZNF226_uc002oyr.2_5'UTR|ZNF226_uc010ejg.2_Silent_p.F10F|ZNF226_uc002oys.2_Silent_p.F10F|ZNF226_uc002oyt.2_Silent_p.F10F	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGACCTTCAAGGACGTGG	0.507		NaN											0	0	0	0.01441	0	52	89				
PVRL2	5819	broad.mit.edu	37	19	45391385	45391385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45391385G>C	uc002ozw.1	+	9	1756	c.1366G>C	c.(1366-1368)GAG>CAG	p.E456Q		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	456	Cytoplasmic (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCGATACCATGAGCTGCCCAC	0.572		NaN											0	0	0	0.007413	0	18	77				
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45873455T>C	uc002pbj.2	-	2	88	c.41A>G	c.(40-42)TAC>TGC	p.Y14C	ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	14	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001855	0	12	27		Valid		
SIX5	147912	broad.mit.edu	37	19	46271356	46271356	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46271356G>A	uc002pdb.2	-	1	1142	c.747C>T	c.(745-747)TTC>TTT	p.F249F	SIX5_uc002pdc.2_Silent_p.F249F	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	249	Homeobox.					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCCGGTTCTTGAACCAGTTGC	0.716		NaN											0	0	0	0.000602	0	5	15				
PNMAL2	57469	broad.mit.edu	37	19	46997390	46997390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46997390C>T	uc002pes.2	-	1	1780	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	445										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGACCCCCTTCGTCCTCACGG	0.642		NaN											0	0	0	0.009535	0	27	50				
HSD17B14	51171	broad.mit.edu	37	19	49334955	49334955	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49334955C>T	uc002pkv.1	-	5	605	c.339G>A	c.(337-339)CTG>CTA	p.L113L	HSD17B14_uc010emk.1_Silent_p.L113L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	113					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCAGTAGGTTCAGCTCCAGCA	0.607		NaN											0	0	0	0.00278	0	20	98				
FTL	2512	broad.mit.edu	37	19	49469600	49469600	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49469600G>T	uc002plo.2	+	3	511	c.312G>T	c.(310-312)GAG>GAT	p.E104D	FTL_uc002pln.1_3'UTR	NM_000146	NP_000137	P02792	FRIL_HUMAN	ferritin, light polypeptide	104	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGGCCCTGGAGAAAAAGCTGA	0.537		NaN											1	0	9.86323e-18	0.003954	1.04101e-17	26	31				
TEAD2	8463	broad.mit.edu	37	19	49846565	49846565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49846565C>T	uc002pnj.2	-	10	1091	c.1000G>A	c.(1000-1002)GAG>AAG	p.E334K	TEAD2_uc002png.2_Missense_Mutation_p.E337K|TEAD2_uc002pnh.2_Missense_Mutation_p.E338K|TEAD2_uc002pni.2_Missense_Mutation_p.E337K|TEAD2_uc010yao.1_Missense_Mutation_p.E206K|TEAD2_uc010emw.2_Missense_Mutation_p.E337K	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	334	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCCAGGCTCTCATACTGGCTG	0.617		NaN											0	0	0	0.00278	0	19	51				
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50243401C>T	uc002ppm.2	-	10	1548	c.1537G>A	c.(1537-1539)GAG>AAG	p.E513K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	513							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647		NaN											0	0	0	0.008871	0	17	72				
TSKS	60385	broad.mit.edu	37	19	50245148	50245148	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50245148C>G	uc002ppm.2	-	9	1502	c.1491G>C	c.(1489-1491)AAG>AAC	p.K497N		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	497							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTACCAGAATCTTCTTGTGTA	0.582		NaN											0	0	0	0.013114	0	43	70				
IL4I1	259307	broad.mit.edu	37	19	50393764	50393764	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50393764C>T	uc002pqt.1	-	8	945	c.867G>A	c.(865-867)GCG>GCA	p.A289A	IL4I1_uc002pqv.1_Silent_p.A298A|IL4I1_uc010eno.1_Silent_p.A297A|IL4I1_uc002pqw.1_Silent_p.A297A|IL4I1_uc002pqu.1_Silent_p.A311A	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	289						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCTGGGTCATCGCCACCACGG	0.682		NaN									OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	14				
NUP62	23636	broad.mit.edu	37	19	50412045	50412045	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50412045C>A	uc002pqx.2	-	2	1124	c.1020G>T	c.(1018-1020)TGG>TGT	p.W340C	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.W340C|NUP62_uc002pqz.2_Missense_Mutation_p.W340C|NUP62_uc002pra.2_Missense_Mutation_p.W340C|NUP62_uc002prb.2_Missense_Mutation_p.W340C|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	340	Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTCCAGGCTCCATTTGTTGA	0.647		NaN											1	0	2.73361e-28	0.01441	2.89787e-28	66	99				
JOSD2	126119	broad.mit.edu	37	19	51009492	51009492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51009492C>T	uc002psn.1	-	5	536	c.505G>A	c.(505-507)GAG>AAG	p.E169K	JOSD2_uc002pso.1_Missense_Mutation_p.E169K|JOSD2_uc002psp.1_Missense_Mutation_p.E169K|JOSD2_uc002psq.1_Missense_Mutation_p.E127K	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	169	Josephin.				protein deubiquitination		ubiquitin-specific protease activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGCAGCACCTCGCACAGGCCC	0.682		NaN											0	0	0	0.001168	0	6	42				
SHANK1	50944	broad.mit.edu	37	19	51219555	51219555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51219555C>G	uc002psx.1	-	2	455	c.436G>C	c.(436-438)GAG>CAG	p.E146Q		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	146					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCCCCTTCTCAAAGGACTGG	0.582		NaN											0	0	0	0.01441	0	47	75				
KLK11	11012	broad.mit.edu	37	19	51527533	51527533	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51527533G>T	uc002pvd.1	-	4	439	c.327C>A	c.(325-327)CTC>CTA	p.L109L	KLK11_uc002pvb.1_Silent_p.L102L|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Silent_p.L77L|KLK11_uc002pvc.3_Silent_p.L77L|KLK11_uc010eom.2_Missense_Mutation_p.P79T	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	109	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCTTCTGGAGGTTGTGCT	0.602		NaN											1	0	1.38814e-16	0.01441	1.46226e-16	55	56				
SIGLEC10	89790	broad.mit.edu	37	19	51920200	51920200	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51920200C>T	uc002pwo.2	-	3	1042	c.426G>A	c.(424-426)CTG>CTA	p.L142L	SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Silent_p.L142L|SIGLEC10_uc010ycy.1_Silent_p.L142L|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	142	Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTTCTGAGTCAGGGCTGGGA	0.622		NaN											0	0	0	0.01441	0	90	72				
ZNF615	284370	broad.mit.edu	37	19	52498046	52498046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52498046G>A	uc002pye.1	-	6	575	c.283C>T	c.(283-285)CAA>TAA	p.Q95*	ZNF615_uc002pyf.1_Nonsense_Mutation_p.Q106*|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Nonsense_Mutation_p.Q106*|ZNF615_uc010epi.1_Nonsense_Mutation_p.Q102*|ZNF615_uc010ydg.1_Nonsense_Mutation_p.Q100*	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAATACTTTGATTTTGCAAG	0.348		NaN											0	0	0	0.012319	0	21	148				
ZNF841	284371	broad.mit.edu	37	19	52568426	52568426	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52568426G>A	uc002pyl.1	-	5	2913	c.2361C>T	c.(2359-2361)AAC>AAT	p.N787N	ZNF841_uc010ydh.1_Silent_p.N903N|ZNF841_uc010epk.1_Silent_p.N479N	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAGTTGTAAGGTTCTCTCCAG	0.338		NaN											0	0	0	0.006214	0	9	62				
ZNF616	90317	broad.mit.edu	37	19	52618287	52618287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52618287G>A	uc002pym.2	-	4	2413	c.2130C>T	c.(2128-2130)ATC>ATT	p.I710I	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	710	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCAGTGTGGATTCTCTGGT	0.398		NaN											0	0	0	0.01441	0	50	362				
ZNF836	162962	broad.mit.edu	37	19	52659824	52659824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52659824G>A	uc010ydi.1	-	5	1486	c.1112C>T	c.(1111-1113)TCT>TTT	p.S371F	ZNF836_uc010ydj.1_Missense_Mutation_p.S371F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	371	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACAAGATTAGAATTCTGCCT	0.403		NaN											0	0	0	0.013726	0	34	79				
ZNF836	162962	broad.mit.edu	37	19	52663830	52663830	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52663830G>A	uc010ydi.1	-	4	404	c.30C>T	c.(28-30)TTC>TTT	p.F10F	ZNF836_uc010ydj.1_Silent_p.F10F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTACATCCCTGAATGTCAAAG	0.433		NaN											0	0	0	0.008871	0	20	174				
ZNF534	147658	broad.mit.edu	37	19	52937222	52937222	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52937222C>A	uc002pzk.2	+	2	91	c.30C>A	c.(28-30)TTC>TTA	p.F10L	ZNF534_uc002pzj.1_Missense_Mutation_p.F10L|ZNF534_uc010epo.1_Missense_Mutation_p.F10L|ZNF534_uc002pzl.2_Missense_Mutation_p.F10L	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATTGTCATTCAGCGATGTGG	0.443		NaN											1	0	4.7546e-09	0.004007	4.92952e-09	13	159				
ZNF578	147660	broad.mit.edu	37	19	53014288	53014288	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53014288C>G	uc002pzp.3	+	6	898	c.654C>G	c.(652-654)CTC>CTG	p.L218L		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	133	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CATCATTACTCACACAAAAAC	0.348		NaN											0	0	0	0.004656	0	27	213				
ZNF320	162967	broad.mit.edu	37	19	53384869	53384869	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53384869G>C	uc002qag.2	-	4	701	c.510C>G	c.(508-510)TTC>TTG	p.F170L	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.F116L|ZNF320_uc002qai.2_Missense_Mutation_p.F170L	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	170	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCAACTGAAAACTTTCT	0.358		NaN											0	0	0	0.003163	0	15	205				
ZNF347	84671	broad.mit.edu	37	19	53644301	53644301	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53644301C>T	uc002qbb.1	-	5	1849	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	ZNF347_uc010eql.1_Missense_Mutation_p.E595K|ZNF347_uc002qbc.1_Missense_Mutation_p.E595K	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TAAGGTTTCTCTCCAGTATGA	0.398		NaN											0	0	0	0.011902	0	46	353				
ZNF347	84671	broad.mit.edu	37	19	53656992	53656992	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53656992G>A	uc002qbb.1	-	2	78	c.9C>T	c.(7-9)CTC>CTT	p.L3L	ZNF347_uc010eql.1_Silent_p.L3L|ZNF347_uc002qbc.1_Silent_p.L3L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TTACCTGGGTGAGAGCCATGC	0.398		NaN											0	0	0	0.010818	0	28	238				
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54483190T>G	uc002qcs.1	+	3	540	c.434T>G	c.(433-435)GTG>GGG	p.V145G	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	146	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647		NaN											0	0	0	0.00308	0	7	17				
PRPF31	26121	broad.mit.edu	37	19	54628017	54628017	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54628017C>T	uc002qdh.2	+	8	1233	c.837C>T	c.(835-837)ATC>ATT	p.I279I	PRPF31_uc010yek.1_Silent_p.I279I	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	279	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	p.I279I(1)		ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTGACATCGTGCAGTCCC	0.672		NaN											0	0	0	0.001984	0	7	64				
CNOT3	4849	broad.mit.edu	37	19	54649696	54649696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54649696G>T	uc002qdj.1	+	9	1065	c.754G>T	c.(754-756)GAG>TAG	p.E252*	CNOT3_uc010yel.1_Nonsense_Mutation_p.E252*|CNOT3_uc002qdi.2_Nonsense_Mutation_p.E165*|CNOT3_uc002qdk.1_Nonsense_Mutation_p.E252*|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	252					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGAGGATGAGATCTTCAA	0.642		NaN											1	0	1.10513e-12	0.014323	1.15629e-12	17	73				
TMC4	147798	broad.mit.edu	37	19	54664083	54664083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54664083C>T	uc010erf.2	-	15	2231	c.2099G>A	c.(2098-2100)CGG>CAG	p.R700Q	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R414Q|TMC4_uc002qdo.2_Missense_Mutation_p.R694Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	700	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACAGCGCGCCGTGCCAGGAA	0.572		NaN											0	0	0	0.009535	0	30	235				
TMC4	147798	broad.mit.edu	37	19	54666432	54666432	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54666432G>A	uc010erf.2	-	10	1626	c.1494C>T	c.(1492-1494)GTC>GTT	p.V498V	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.V212V|TMC4_uc002qdo.2_Silent_p.V492V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	498	Helical; (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGCAGCGCGACTGCCAAGA	0.547		NaN											0	0	0	0.009096	0	4	36				
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54823808G>A	uc002qfe.2	-	2	207	c.87C>T	c.(85-87)CTC>CTT	p.L29L	LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	29					innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602		NaN											0	0	0	0.004482	0	8	71				
LENG9	94059	broad.mit.edu	37	19	54973372	54973372	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54973372G>A	uc010yez.1	-	1	1523	c.1404C>T	c.(1402-1404)CTC>CTT	p.L468L		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	468					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTTCCTGGCTGAGGGTGAACT	0.647		NaN											0	0	0	0.01441	0	92	96				
NLRP2	55655	broad.mit.edu	37	19	55508802	55508802	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55508802G>A	uc002qij.2	+	12	3083	c.2997G>A	c.(2995-2997)GTG>GTA	p.V999V	NLRP2_uc010yfp.1_Silent_p.V976V|NLRP2_uc010esn.2_Silent_p.V975V|NLRP2_uc010eso.2_Silent_p.V996V|NLRP2_uc010esp.2_Silent_p.V977V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	999	LRR 7.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGTGGAGTGAAGATGCTGT	0.537		NaN											0	0	0	0.01441	0	187	158				
C19orf51	352909	broad.mit.edu	37	19	55670468	55670468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55670468G>A	uc002qji.1	-	12	1622	c.1588C>T	c.(1588-1590)CCG>TCG	p.P530S	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.P345S|C19orf51_uc002qjj.1_Missense_Mutation_p.P577S|C19orf51_uc002qjk.1_Missense_Mutation_p.P476S|C19orf51_uc002qjl.1_Missense_Mutation_p.P597S			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	530											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTGGGCGGAGCCAAGGCC	0.587		NaN											0	0	0	0.01441	0	52	31				
SYT5	6861	broad.mit.edu	37	19	55686347	55686347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55686347G>C	uc002qjm.1	-	6	1789	c.729C>G	c.(727-729)ATC>ATG	p.I243M	SYT5_uc002qjp.2_Missense_Mutation_p.I239M|SYT5_uc002qjn.1_Missense_Mutation_p.I243M|SYT5_uc002qjo.1_Missense_Mutation_p.I242M	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	243	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGAGAAGCAGATGTCCCCAA	0.607		NaN											0	0	0	0.01441	0	68	28				
UBE2S	27338	broad.mit.edu	37	19	55912936	55912936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55912936G>A	uc002qkx.1	-	4	905	c.537C>T	c.(535-537)TCC>TCT	p.S179S		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	179					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CAGGGTCGGTGGAGGAAGCTT	0.711		NaN											0	0	0	0.000602	0	3	30				
NLRP4	147945	broad.mit.edu	37	19	56369323	56369323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:56369323C>A	uc002qmd.3	+	3	986	c.564C>A	c.(562-564)TTC>TTA	p.F188L	NLRP4_uc002qmf.2_Missense_Mutation_p.F113L|NLRP4_uc010etf.2_Missense_Mutation_p.F19L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	188	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCTATTTCTGCTGCAGAG	0.507		NaN											1	0	1.01871e-10	0.008871	1.06177e-10	21	225				
ZNF71	58491	broad.mit.edu	37	19	57132856	57132856	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57132856C>G	uc002qnm.3	+	3	439	c.201C>G	c.(199-201)CTC>CTG	p.L67L		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	67						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGAACAAACTCTTAGGGGGCT	0.607		NaN											0	0	0	0.006214	0	9	73				
AURKC	6795	broad.mit.edu	37	19	57743573	57743573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57743573G>C	uc002qoe.2	+	3	466	c.277G>C	c.(277-279)GAG>CAG	p.E93Q	AURKC_uc002qoc.2_Missense_Mutation_p.E74Q|AURKC_uc002qod.2_Missense_Mutation_p.E59Q|AURKC_uc010etv.2_Missense_Mutation_p.E90Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	93	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCGGGAAATTGAGATCCAGGC	0.507		NaN											0	0	0	0.004482	0	8	97				
ZNF548	147694	broad.mit.edu	37	19	57911012	57911012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57911012G>C	uc002qom.2	+	3	1607	c.1357G>C	c.(1357-1359)GAG>CAG	p.E453Q	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E456Q	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	453	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGAGTGCAGAGAGTGTGGGAA	0.463		NaN											0	0	0	0.013537	0	13	113				
ZSCAN4	201516	broad.mit.edu	37	19	58187526	58187526	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58187526C>A	uc002qpu.2	+	3	710	c.13C>A	c.(13-15)CTA>ATA	p.L5I		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	5					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTAGATCTAAGAACCAT	0.398		NaN											1	0	2.94398e-08	0.007413	3.04067e-08	19	116				
ZNF417	147687	broad.mit.edu	37	19	58421054	58421054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58421054C>T	uc002qqq.2	-	3	791	c.592G>A	c.(592-594)GAA>AAA	p.E198K	ZNF417_uc010yhm.1_Missense_Mutation_p.E155K|ZNF417_uc002qqr.2_Missense_Mutation_p.E197K	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TGCATAGTTTCACTGTCTGTC	0.488		NaN											0	0	0	0.011902	0	37	69				
ZNF256	10172	broad.mit.edu	37	19	58452322	58452322	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58452322G>A	uc002qqu.2	-	3	2089	c.1854C>T	c.(1852-1854)CTC>CTT	p.L618L	ZNF256_uc010euj.2_Silent_p.L465L	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	618	C2H2-type 15.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GATGTTTTAGGAGGTTGGAGT	0.428		NaN											0	0	0	0.014323	0	21	74				
ZNF256	10172	broad.mit.edu	37	19	58453721	58453721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58453721C>G	uc002qqu.2	-	3	690	c.455G>C	c.(454-456)AGA>ACA	p.R152T	ZNF256_uc010euj.2_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	152					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAACATGTCTCTGCCCCCATT	0.458		NaN											0	0	0	0.013726	0	34	100				
ZNF544	27300	broad.mit.edu	37	19	58773587	58773587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58773587C>G	uc010euo.2	+	7	2089	c.1615C>G	c.(1615-1617)CAG>GAG	p.Q539E	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q511E|ZNF544_uc010yhy.1_Missense_Mutation_p.Q511E|ZNF544_uc002qrt.3_Missense_Mutation_p.Q397E|ZNF544_uc002qru.3_Missense_Mutation_p.Q397E|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	539	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TATTACGCATCAGCGAATTCA	0.443		NaN											0	0	0	0.01441	0	57	52				
MYT1L	23040	broad.mit.edu	37	2	1893096	1893096	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:1893096C>T	uc002qxe.2	-	16	3264	c.2437G>A	c.(2437-2439)GAG>AAG	p.E813K	MYT1L_uc002qxd.2_Missense_Mutation_p.E811K|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	813					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAGTCGCCCTCGCCCAGCTGG	0.587		NaN											0	0	0	0.00278	0	23	92				
ASAP2	8853	broad.mit.edu	37	2	9540887	9540887	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9540887G>A	uc002qzh.2	+	26	3091	c.2751G>A	c.(2749-2751)ACG>ACA	p.T917T	ASAP2_uc002qzi.2_Silent_p.T872T	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	917	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						TCTCTGCAACGGAAGCTCTGG	0.532		NaN											0	0	0	0.010729	0	11	62				
ITGB1BP1	9270	broad.mit.edu	37	2	9552439	9552439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9552439C>G	uc002qzj.2	-	4	424	c.247G>C	c.(247-249)GAA>CAA	p.E83Q	ITGB1BP1_uc002qzk.2_Missense_Mutation_p.E83Q|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.E39Q|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.E83Q	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	83	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AATGGCCCTTCAAGGCCTTTT	0.403		NaN											0	0	0	0.00278	0	25	124				
ADAM17	6868	broad.mit.edu	37	2	9695720	9695720	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9695720G>A	uc002qzu.2	-	1	198	c.15C>T	c.(13-15)CTC>CTT	p.L5L	ADAM17_uc010ewy.2_Silent_p.L5L|ADAM17_uc010ewz.2_Silent_p.L5L|ADAM17_uc010exb.1_Silent_p.L5L|ADAM17_uc002qzv.2_Silent_p.L5L	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	5					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCAGGAATAGGAGAGACTGCC	0.647		NaN									OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	3	10				
GRHL1	29841	broad.mit.edu	37	2	10101494	10101494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10101494C>T	uc002raa.2	+	4	769	c.598C>T	c.(598-600)CAA>TAA	p.Q200*	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.L36L|GRHL1_uc010yjb.1_Nonsense_Mutation_p.Q49*	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	200					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTCTGGTGCTCAAGCCCCAAA	0.522		NaN											0	0	0	0.009718	0	40	143				
KLF11	8462	broad.mit.edu	37	2	10187963	10187963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10187963C>T	uc002raf.1	+	3	661	c.499C>T	c.(499-501)CCC>TCC	p.P167S	KLF11_uc010yjc.1_Missense_Mutation_p.P150S	NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	167					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCCAGCTCTCCCTGCAGGGC	0.637		NaN											0	0	0	0.014323	0	23	79				
HPCAL1	3241	broad.mit.edu	37	2	10559935	10559935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10559935G>A	uc002raj.2	+	3	426	c.52G>A	c.(52-54)GAG>AAG	p.E18K	HPCAL1_uc002rak.2_Missense_Mutation_p.E18K|HPCAL1_uc002ral.2_Missense_Mutation_p.E18K|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.E18K	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	18							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGACCTGCGGGAGAACACGGA	0.647		NaN											0	0	0	0.013726	0	31	10				
LPIN1	23175	broad.mit.edu	37	2	11964910	11964910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:11964910C>T	uc010yjn.1	+	21	2940	c.2666C>T	c.(2665-2667)TCA>TTA	p.S889L	LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	889					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CATTCTGCCTCAGCGTAAAAT	0.517		NaN											0	0	0	0.01441	0	63	34				
NBAS	51594	broad.mit.edu	37	2	15415689	15415689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:15415689C>T	uc002rcc.1	-	44	5669	c.5643G>A	c.(5641-5643)ATG>ATA	p.M1881I	NBAS_uc010exl.1_Missense_Mutation_p.M953I|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1881										ovary(2)|liver(1)|skin(1)	4						CAAAGTACTTCATGCAGACAT	0.448		NaN											0	0	0	0.01441	0	65	25				
APOB	338	broad.mit.edu	37	2	21233209	21233209	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233209A>G	uc002red.2	-	26	6659	c.6531T>C	c.(6529-6531)TAT>TAC	p.Y2177Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2177	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTGTATCATATATGTCTGCA	0.234		NaN											0	0	0	0.01441	0	50	31				
APOB	338	broad.mit.edu	37	2	21233218	21233218	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233218C>T	uc002red.2	-	26	6650	c.6522G>A	c.(6520-6522)CTG>CTA	p.L2174L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2174	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATATGTCTGCAGTTGAGATA	0.254		NaN											0	0	0	0.01441	0	45	31				
MFSD2B	388931	broad.mit.edu	37	2	24236211	24236211	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24236211G>A	uc002reo.1	+	2	167	c.153G>A	c.(151-153)GGG>GGA	p.G51G	MFSD2B_uc010exz.1_RNA	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	51					transport	integral to membrane				ovary(2)	2						GCATTGGTGGGGTCCCCAACC	0.547		NaN											0	0	0	0.000602	0	5	19				
C2orf84	653140	broad.mit.edu	37	2	24398440	24398440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24398440G>C	uc002rfc.2	+	2	177	c.91G>C	c.(91-93)GAG>CAG	p.E31Q	C2orf84_uc010eyc.2_RNA	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	hypothetical protein LOC653140	31											0						TTCTTTAATGGAGGTGAGATA	0.483		NaN											0	0	0	0.009535	0	32	30				
ADCY3	109	broad.mit.edu	37	2	25047259	25047259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25047259C>T	uc002rfs.3	-	16	2923	c.2724G>A	c.(2722-2724)AAG>AAA	p.K908K	ADCY3_uc002rfr.3_Silent_p.K495K|ADCY3_uc010ykm.1_Silent_p.K909K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	908	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCTCTCTTCTTGGACCCCA	0.582		NaN											0	0	0	0.006999	0	40	27				
DTNB	1838	broad.mit.edu	37	2	25705718	25705718	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25705718C>T	uc002rgh.2	-	10	1276	c.1026G>A	c.(1024-1026)ATG>ATA	p.M342I	DTNB_uc002rgg.2_Missense_Mutation_p.M1I|DTNB_uc010yko.1_Missense_Mutation_p.M285I|DTNB_uc010ykp.1_Missense_Mutation_p.M138I|DTNB_uc002rgo.2_Missense_Mutation_p.M163I|DTNB_uc002rgi.2_Missense_Mutation_p.M342I|DTNB_uc002rgj.2_Missense_Mutation_p.M342I|DTNB_uc002rgk.2_Missense_Mutation_p.M342I|DTNB_uc002rgl.2_Missense_Mutation_p.M342I|DTNB_uc002rgq.2_Missense_Mutation_p.M342I|DTNB_uc002rgm.2_Missense_Mutation_p.M342I|DTNB_uc002rgn.2_Missense_Mutation_p.M138I|DTNB_uc002rgr.1_Missense_Mutation_p.M331I|DTNB_uc010ykq.1_Missense_Mutation_p.M195I	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	342						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGTCATTCATATTAGTCA	0.468		NaN											0	0	0	0.01441	0	45	29				
ASXL2	55252	broad.mit.edu	37	2	26029124	26029124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26029124C>T	uc002rgs.2	-	3	447	c.226G>A	c.(226-228)GGT>AGT	p.G76S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATTCTACCTGGAACCTTA	0.398		NaN											0	0	0	0.000602	0	5	36				
OTOF	9381	broad.mit.edu	37	2	26726693	26726693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26726693G>A	uc002rhk.2	-	6	657	c.530C>T	c.(529-531)TCC>TTC	p.S177F	OTOF_uc010ylb.1_RNA	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	177	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATGGCGGAGAACACGCT	0.632		NaN											0	0	0	0.003163	0	16	77				
TMEM214	54867	broad.mit.edu	37	2	27258840	27258840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27258840G>A	uc002ria.3	+	5	750	c.640G>A	c.(640-642)GAG>AAG	p.E214K	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.E169K	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	214						integral to membrane	protein binding				0						CTCTCCAGGGGAGTCACTACA	0.527		NaN											0	0	0	0.00245	0	12	81				
SLC5A6	8884	broad.mit.edu	37	2	27427346	27427346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27427346G>C	uc002rjd.2	-	9	1379	c.988C>G	c.(988-990)CAG>GAG	p.Q330E	SLC5A6_uc010eyv.1_Missense_Mutation_p.Q330E	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	330					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGGGCTGCCTGAGCCTGCTGA	0.572		NaN											0	0	0	0.00245	0	14	73				
SLC5A6	8884	broad.mit.edu	37	2	27430496	27430496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27430496G>T	uc002rjd.2	-	3	414	c.23C>A	c.(22-24)TCA>TAA	p.S8*	SLC5A6_uc010eyv.1_Nonsense_Mutation_p.S8*|SLC5A6_uc002rje.1_Nonsense_Mutation_p.S8*	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	8					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AAGAGGGGCTGAGGTGCTCAC	0.587		NaN											1	0	1.58986e-06	0.008291	1.63198e-06	10	57				
CAD	790	broad.mit.edu	37	2	27463781	27463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27463781G>A	uc002rji.2	+	36	5758	c.5596G>A	c.(5596-5598)GAG>AAG	p.E1866K	CAD_uc010eyw.2_Missense_Mutation_p.E1803K	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1866	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTTTGCAGCTGAGGAGCCAAA	0.502		NaN											0	0	0	0.003954	0	27	22				
PPM1G	5496	broad.mit.edu	37	2	27605009	27605009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27605009G>A	uc002rkl.2	-	10	1525	c.1418C>T	c.(1417-1419)TCA>TTA	p.S473L	ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.S254L	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	473					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CACAATGGATGACAATAACCG	0.483		NaN											0	0	0	0.004007	0	16	71				
BRE	9577	broad.mit.edu	37	2	28152708	28152708	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28152708A>G	uc002rlr.2	+	4	456	c.138A>G	c.(136-138)TCA>TCG	p.S46S	BRE_uc002rlp.1_Silent_p.S46S|BRE_uc002rlq.2_Silent_p.S46S|BRE_uc002rls.2_Silent_p.S46S|BRE_uc002rlt.2_Silent_p.S46S|BRE_uc002rlu.2_Silent_p.S46S|BRE_uc002rlv.2_5'UTR	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A	46	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GCTGCACATCATTGACTCCTG	0.323		NaN											0	0	0	0.004656	0	25	109				
C2orf71	388939	broad.mit.edu	37	2	29295005	29295005	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29295005G>C	uc002rmt.1	-	1	2123	c.2123C>G	c.(2122-2124)TCA>TGA	p.S708*		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	708					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GACCTCTCCTGATGGGATGGC	0.507		NaN											0	0	0	0.010504	0	19	135				
CLIP4	79745	broad.mit.edu	37	2	29354254	29354254	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29354254T>C	uc002rmv.2	+	3	503	c.264T>C	c.(262-264)ATT>ATC	p.I88I	CLIP4_uc002rmu.2_Silent_p.I88I|CLIP4_uc010ezm.1_Silent_p.I88I|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.I70I	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	88	ANK 1.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTGACATTATTGGAAATGAGG	0.338		NaN											0	0	0	0.001168	0	6	189				
XDH	7498	broad.mit.edu	37	2	31587029	31587029	+	Nonsense_Mutation	SNP	G	G	A	rs140982129		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:31587029G>A	uc002rnv.1	-	24	2705	c.2626C>T	c.(2626-2628)CAG>TAG	p.Q876*		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	876					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCACACTCTGAGAGAGATCC	0.572		NaN											0	0	0	0.00308	0	8	54				
BIRC6	57448	broad.mit.edu	37	2	32640622	32640622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32640622G>A	uc010ezu.2	+	10	2397	c.2263G>A	c.(2263-2265)GAA>AAA	p.E755K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	755					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATGCCCTGTTGAATCCTTGAG	0.398		NaN											0	0	0	0.00245	0	14	79				
BIRC6	57448	broad.mit.edu	37	2	32743450	32743450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32743450C>T	uc010ezu.2	+	56	11613	c.11479C>T	c.(11479-11481)CAG>TAG	p.Q3827*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3827					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AATGTTTCTTCAGTCTCCATG	0.368		NaN											0	0	0	0.003163	0	15	79				
BIRC6	57448	broad.mit.edu	37	2	32770731	32770731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32770731C>T	uc010ezu.2	+	63	12748	c.12614C>T	c.(12613-12615)TCA>TTA	p.S4205L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4205					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAATCTCCATCAGCCAATGTG	0.393		NaN											0	0	0	0.01441	0	56	288				
GALM	130589	broad.mit.edu	37	2	38960689	38960689	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:38960689C>T	uc002rqy.2	+	7	1263	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	337					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				CCACCTGGTTCAAGTTTTCTG	0.527		NaN											0	0	0	0.01441	0	88	104				
SLC3A1	6519	broad.mit.edu	37	2	44539852	44539852	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:44539852G>A	uc002ruc.3	+	8	1538	c.1460G>A	c.(1459-1461)GGA>GAA	p.G487E	SLC3A1_uc002rtz.2_Missense_Mutation_p.G487E|SLC3A1_uc002rua.2_Missense_Mutation_p.G487E|SLC3A1_uc002rub.2_Missense_Mutation_p.G487E|SLC3A1_uc002rud.3_Missense_Mutation_p.G209E|SLC3A1_uc002rue.3_Missense_Mutation_p.G107E	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	487	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTGGAATGGGAAATATTGTA	0.353		NaN											0	0	0	0.006214	0	9	65				
ERLEC1	27248	broad.mit.edu	37	2	54028617	54028617	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54028617G>A	uc002rxl.2	+	7	889	c.609G>A	c.(607-609)CAG>CAA	p.Q203Q	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.Q203Q|ERLEC1_uc002rxn.2_Silent_p.Q203Q	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	203					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						GTTTGAAACAGAACCGGCCCA	0.373		NaN											0	0	0	0.01441	0	47	88				
SPTBN1	6711	broad.mit.edu	37	2	54882285	54882285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54882285C>T	uc002rxu.2	+	28	6150	c.5901C>T	c.(5899-5901)TTC>TTT	p.F1967F	SPTBN1_uc002rxx.2_Silent_p.F1954F|SPTBN1_uc002rxy.2_Silent_p.F112F|SPTBN1_uc010you.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1967	Spectrin 16.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ATGACAGTTTCACAACCTGCA	0.423		NaN											0	0	0	0.001855	0	14	67				
RTN4	57142	broad.mit.edu	37	2	55252388	55252388	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55252388G>C	uc002rye.2	-	3	3145	c.2847C>G	c.(2845-2847)CTC>CTG	p.L949L	RTN4_uc002ryd.2_Silent_p.L743L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	949	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GAGGCAATAAGAGCACCTTTG	0.393		NaN											0	0	0	0.01441	0	94	92				
RTN4	57142	broad.mit.edu	37	2	55253818	55253818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55253818C>T	uc002rye.2	-	3	1715	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	RTN4_uc002ryd.2_Missense_Mutation_p.E267K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	473	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GCAATGCTCTCAGTTGCTGCT	0.388		NaN											0	0	0	0.01441	0	131	215				
MTIF2	4528	broad.mit.edu	37	2	55471226	55471226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55471226C>T	uc002ryn.2	-	12	1987	c.1250G>A	c.(1249-1251)GGA>GAA	p.G417E	MTIF2_uc010yox.1_Missense_Mutation_p.G86E|MTIF2_uc002ryo.2_Missense_Mutation_p.G417E	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	417					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						GCCTGTAATTCCCACTGGCAT	0.393		NaN											0	0	0	0.01441	0	47	40				
BCL11A	53335	broad.mit.edu	37	2	60688925	60688925	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:60688925G>C	uc002sae.1	-	4	1350	c.1122C>G	c.(1120-1122)GTC>GTG	p.V374V	BCL11A_uc002sab.2_Silent_p.V374V|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.V340V|BCL11A_uc002sad.1_Silent_p.V222V|BCL11A_uc002saf.1_Silent_p.V340V	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	374					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTTGGACTTGACCGGGGGCT	0.632		NaN	T	IGH@	B-CLL								0	0	0	0.008361	0	30	80				
B3GNT2	10678	broad.mit.edu	37	2	62449761	62449761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:62449761G>C	uc002sbs.2	+	2	644	c.406G>C	c.(406-408)GAT>CAT	p.D136H		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	136	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGATCAGCCGGATAAGTGTGC	0.463		NaN											0	0	0	0.013114	0	44	257				
OTX1	5013	broad.mit.edu	37	2	63282997	63282997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:63282997C>T	uc002scd.2	+	5	859	c.611C>T	c.(610-612)TCG>TTG	p.S204L	OTX1_uc010ypt.1_Missense_Mutation_p.S138L	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	204						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCAACACCTCGTGTATGCAG	0.682		NaN											0	0	0	0.008291	0	4	4				
AFTPH	54812	broad.mit.edu	37	2	64796344	64796344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:64796344C>T	uc002sdc.2	+	3	2238	c.2206C>T	c.(2206-2208)CGA>TGA	p.R736*	AFTPH_uc002scz.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sda.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.R736*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	736					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						AATAGACACCCGAAACATTGT	0.418		NaN											0	0	0	0.012319	0	21	138				
GFPT1	2673	broad.mit.edu	37	2	69569358	69569358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:69569358G>C	uc002sfh.2	-	12	1254	c.1075C>G	c.(1075-1077)CAC>GAC	p.H359D		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	377	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						TCCTTTATGTGATCCTTCAAA	0.358		NaN											0	0	0	0.01441	0	48	232				
PCBP1	5093	broad.mit.edu	37	2	70315543	70315543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:70315543C>T	uc002sgf.2	+	1	959	c.668C>T	c.(667-669)TCG>TTG	p.S223L	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	223					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						GATGCCTACTCGATTCAAGGA	0.607		NaN											0	0	0	0.00278	0	23	29				
NAGK	55577	broad.mit.edu	37	2	71297643	71297643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:71297643G>A	uc002shp.3	+	2	447	c.41G>A	c.(40-42)CGA>CAA	p.R14Q	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_5'UTR	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	14					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	GGAGGCACACGATCCGAGGTC	0.527		NaN									OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	10	35				
CCDC142	84865	broad.mit.edu	37	2	74709391	74709391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74709391C>T	uc002slr.2	-	1	967	c.574G>A	c.(574-576)GAG>AAG	p.E192K	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.E192K|CCDC142_uc002slp.2_Missense_Mutation_p.E192K	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	192										central_nervous_system(1)	1						CTGGCGGGCTCCCGGCCGAGA	0.667		NaN											0	0	0	0.001168	0	6	9				
SEMA4F	10505	broad.mit.edu	37	2	74883774	74883774	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74883774G>C	uc002sna.1	+	2	370	c.259G>C	c.(259-261)GCT>CCT	p.A87P	SEMA4F_uc010ysb.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffq.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A87P	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	87	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CACCATCTTCGCTTTATCCCT	0.527		NaN											0	0	0	0.01441	0	54	80				
C2orf89	129293	broad.mit.edu	37	2	85108116	85108116	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85108116G>C	uc010ysl.1	-	1	137	c.48C>G	c.(46-48)CCC>CCG	p.P16P	C2orf89_uc002sou.3_Silent_p.P16P|C2orf89_uc010fgc.1_Silent_p.P16P	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	16						integral to membrane				ovary(1)	1						CTGCGCCCGTGGGCAGGAGGC	0.711		NaN											0	0	0	0.004482	0	7	3				
ELMOD3	84173	broad.mit.edu	37	2	85616934	85616934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85616934G>A	uc002spf.3	+	13	1464	c.799G>A	c.(799-801)GAG>AAG	p.E267K	ELMOD3_uc002spg.3_Missense_Mutation_p.E267K|ELMOD3_uc002sph.3_Missense_Mutation_p.E267K|ELMOD3_uc010ysn.1_Missense_Mutation_p.E267K|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	267	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						GGCCTTGAGAGAGGAGTGTCT	0.542		NaN											0	0	0	0.003755	0	33	40				
SH2D6	284948	broad.mit.edu	37	2	85662187	85662187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85662187G>A	uc002spq.2	+	1	270	c.109G>A	c.(109-111)GAA>AAA	p.E37K	SH2D6_uc002spo.2_Splice_Site|SH2D6_uc002spp.2_Splice_Site	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	37										central_nervous_system(1)	1						GCTTCTTCTAGAAGGAAGGAA	0.512		NaN											0	0	0	0.006214	0	10	23				
POLR1A	25885	broad.mit.edu	37	2	86259451	86259451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86259451C>T	uc002sqs.2	-	29	4595	c.4216G>A	c.(4216-4218)GAG>AAG	p.E1406K	POLR1A_uc010ytb.1_Missense_Mutation_p.E772K	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1406					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCCCCCTCCTCAGCTTCAGCA	0.567		NaN											0	0	0	0.00623	0	40	54				
PTCD3	55037	broad.mit.edu	37	2	86333455	86333455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86333455G>A	uc002sqw.2	+	1	151	c.85G>A	c.(85-87)GAA>AAA	p.E29K	POLR1A_uc002sqs.2_5'Flank|POLR1A_uc002sqv.2_5'Flank|PTCD3_uc010ytc.1_RNA	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	29						mitochondrion	protein binding			ovary(1)	1						GGGTTTGTGTGAACAGGCACG	0.597		NaN											0	0	0	0.014323	0	17	47				
KRCC1	51315	broad.mit.edu	37	2	88327938	88327938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:88327938C>T	uc002sso.1	-	4	539	c.145G>A	c.(145-147)GAG>AAG	p.E49K	KRCC1_uc002ssp.1_Missense_Mutation_p.E49K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	49										ovary(1)	1						GAATTAACCTCTCCTTTGTAC	0.418		NaN											0	0	0	0.01441	0	52	93				
PROM2	150696	broad.mit.edu	37	2	95940393	95940393	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940393G>A	uc002suh.1	+	1	193	c.60G>A	c.(58-60)CTG>CTA	p.L20L	PROM2_uc002sui.2_Silent_p.L20L|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.L20L|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	20						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						GGCTGGCCCTGAGTCAGCTGG	0.677		NaN											0	0	0	0.008291	0	10	65				
PROM2	150696	broad.mit.edu	37	2	95940456	95940456	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940456C>T	uc002suh.1	+	1	256	c.123C>T	c.(121-123)TTC>TTT	p.F41F	PROM2_uc002sui.2_Silent_p.F41F|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.F41F|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	41	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						ACCTGACATTCACCCCAGCAG	0.697		NaN											0	0	0	0.013114	0	42	147				
FAHD2A	51011	broad.mit.edu	37	2	96072879	96072879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:96072879G>T	uc002sur.2	+	3	615	c.436G>T	c.(436-438)GAG>TAG	p.E146*	FAHD2A_uc002sus.2_Nonsense_Mutation_p.E146*	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	146							hydrolase activity|metal ion binding			ovary(1)	1						GCCCTATGATGAGGTGGTCCT	0.562		NaN											1	0	9.05144e-12	0.001855	9.45218e-12	10	124				
ARID5A	10865	broad.mit.edu	37	2	97215120	97215120	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:97215120C>T	uc002swe.2	+	3	283	c.183C>T	c.(181-183)TTC>TTT	p.F61F	ARID5A_uc010yuq.1_5'UTR|ARID5A_uc002swf.2_Intron|ARID5A_uc002swg.2_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	61	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						agcaggCCTTCCTGGTCAGCC	0.478		NaN											0	0	0	0.008361	0	28	46				
EIF5B	9669	broad.mit.edu	37	2	99976974	99976974	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99976974C>G	uc002tab.2	+	3	392	c.208C>G	c.(208-210)CAA>GAA	p.Q70E		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	70					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TTTGGAAGCTCAAGGCATCAA	0.348		NaN											0	0	0	0.007413	0	19	44				
EIF5B	9669	broad.mit.edu	37	2	99984993	99984993	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99984993G>A	uc002tab.2	+	7	1510	c.1326G>A	c.(1324-1326)AAG>AAA	p.K442K		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	442					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TGCCAAAGAAGAGGCCAATTT	0.343		NaN											0	0	0	0.003755	0	35	63				
TBC1D8	11138	broad.mit.edu	37	2	101648738	101648738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:101648738C>T	uc010fiv.2	-	11	2014	c.1883G>A	c.(1882-1884)CGA>CAA	p.R628Q	TBC1D8_uc002tau.3_Missense_Mutation_p.R385Q	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	628	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						ACCGATCACTCGGTGGTTGAA	0.532		NaN											0	0	0	0.004482	0	9	12				
C2orf49	79074	broad.mit.edu	37	2	105959589	105959589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105959589C>T	uc002tcs.1	+	3	583	c.551C>T	c.(550-552)TCA>TTA	p.S184L	C2orf49_uc010fjd.1_Missense_Mutation_p.S142L	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	184						tRNA-splicing ligase complex					0						AAAAGTCCTTCAGGCCCTGTG	0.443		NaN											0	0	0	0.005524	0	40	73				
SLC5A7	60482	broad.mit.edu	37	2	108608600	108608600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:108608600G>A	uc002tdv.2	+	3	493	c.217G>A	c.(217-219)GAA>AAA	p.E73K	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.E73K|SLC5A7_uc010ywn.1_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	73	Cytoplasmic (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TGGCACAGCTGAAGCAGTTTA	0.423		NaN											0	0	0	0.003755	0	34	53				
RANBP2	5903	broad.mit.edu	37	2	109352069	109352069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109352069G>C	uc002tem.3	+	5	613	c.487G>C	c.(487-489)GAT>CAT	p.D163H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	163					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGTAAGACCTGATGACGTCCA	0.438		NaN											0	0	0	0.01441	0	102	410				
RANBP2	5903	broad.mit.edu	37	2	109383083	109383083	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109383083G>A	uc002tem.3	+	20	6214	c.6088G>A	c.(6088-6090)GAA>AAA	p.E2030K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2030	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AACAGGAGAAGAAGATGAAAA	0.388		NaN											0	0	0	0.01441	0	134	630				
SEPT10	151011	broad.mit.edu	37	2	110332307	110332307	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:110332307C>T	uc002tew.2	-	5	830	c.451G>A	c.(451-453)GAG>AAG	p.E151K	SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.E128K|SEPT10_uc002tey.2_Missense_Mutation_p.E151K|SEPT10_uc010ywv.1_Missense_Mutation_p.E17K|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	151					cell cycle|cell division	septin complex	GTP binding				0						AGATAGGCCTCAAACTGAGCA	0.378		NaN											0	0	0	0.01441	0	49	67				
ANAPC1	64682	broad.mit.edu	37	2	112550062	112550062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112550062G>A	uc002thi.2	-	38	4836	c.4589C>T	c.(4588-4590)TCA>TTA	p.S1530L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1530	PC 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						TAGGTTTCCTGAGCCAGCCAT	0.483		NaN											0	0	0	0.004007	0	12	45				
MERTK	10461	broad.mit.edu	37	2	112751899	112751899	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112751899G>A	uc002thk.1	+	9	1490	c.1368G>A	c.(1366-1368)ACG>ACA	p.T456T	MERTK_uc002thl.1_Silent_p.T280T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	456	Fibronectin type-III 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						ACAATGCTACGTGCACAGTGA	0.522		NaN											0	0	0	0.01441	0	71	109				
FOXD4L1	200350	broad.mit.edu	37	2	114256945	114256945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:114256945G>A	uc002tjw.3	+	1	285	c.112G>A	c.(112-114)GAG>AAG	p.E38K		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	38					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						agatgaagacgaggtggaaga	0.532		NaN											0	0	0	0.01441	0	48	63				
EN1	2019	broad.mit.edu	37	2	119604241	119604241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:119604241G>A	uc002tlm.2	-	1	1519	c.503C>T	c.(502-504)TCG>TTG	p.S168L		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	168					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						GCACAGGAGCGAGGCAGCGCC	0.602		NaN											0	0	0	0.00308	0	8	4				
CNTNAP5	129684	broad.mit.edu	37	2	125504879	125504879	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:125504879G>T	uc002tno.2	+	14	2512	c.2148G>T	c.(2146-2148)GGG>GGT	p.G716G	CNTNAP5_uc010flu.2_Silent_p.G717G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	716	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCTCCTGGGGTCCAGCAGT	0.517		NaN											1	0	6.4771e-29	0.010771	6.86965e-29	44	74				
UGGT1	56886	broad.mit.edu	37	2	128867254	128867254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:128867254C>T	uc002tps.2	+	5	633	c.455C>T	c.(454-456)TCA>TTA	p.S152L	UGGT1_uc010fme.1_Missense_Mutation_p.S27L|UGGT1_uc002tpr.2_Missense_Mutation_p.S128L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	152					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TCGTTTTTTTCAGTGCATGGA	0.378		NaN											0	0	0	0.01441	0	51	77				
HS6ST1	9394	broad.mit.edu	37	2	129026352	129026352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:129026352G>A	uc002tpt.3	-	2	654	c.620C>T	c.(619-621)TCG>TTG	p.S207L		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	207	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CATATGCAACGACGTCTTCCA	0.632		NaN											0	0	0	0.010729	0	12	58				
RAB3GAP1	22930	broad.mit.edu	37	2	135888197	135888197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:135888197C>T	uc002tuj.2	+	13	1167	c.1142C>T	c.(1141-1143)TCA>TTA	p.S381L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S381L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S206L|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	381						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTATCAGTTTCAAATATGGTA	0.338		NaN											0	0	0	0.004007	0	16	51				
DARS	1615	broad.mit.edu	37	2	136743012	136743012	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:136743012C>T	uc002tux.1	-	1	211	c.27G>A	c.(25-27)AAG>AAA	p.K9K	DARS_uc010fnj.1_5'UTR	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	9					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCTCCTGACTCTTGCGGCTGG	0.687		NaN											0	0	0	0.013537	0	5	1				
LRP1B	53353	broad.mit.edu	37	2	141359032	141359032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:141359032C>T	uc002tvj.1	-	42	7948	c.6976G>A	c.(6976-6978)GAT>AAT	p.D2326N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2326	Extracellular (Potential).|LDL-receptor class B 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACATTCATCCAAGGCTAGC	0.378		NaN								TSP Lung(27;0.18)			0	0	0	0.005524	0	38	10				
MBD5	55777	broad.mit.edu	37	2	149226996	149226996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:149226996C>G	uc002twm.3	+	9	2472	c.1484C>G	c.(1483-1485)TCA>TGA	p.S495*	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.S495*|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	495						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCACCAAGGTCAACAATAGGG	0.478		NaN											0	0	0	0.00499	0	18	36				
STAM2	10254	broad.mit.edu	37	2	153000393	153000393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:153000393C>G	uc002tyc.3	-	7	1002	c.652G>C	c.(652-654)GAC>CAC	p.D218H	STAM2_uc010foa.1_Missense_Mutation_p.D218H|STAM2_uc002tyd.2_Missense_Mutation_p.D218H	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	218	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		AGTTCATTGTCCTCAACAGCT	0.318		NaN											0	0	0	0.008871	0	19	37				
LRP2	4036	broad.mit.edu	37	2	170148823	170148823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:170148823G>A	uc002ues.2	-	7	922	c.709C>T	c.(709-711)CAA>TAA	p.Q237*	LRP2_uc010zdf.1_Nonsense_Mutation_p.Q237*	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	237	LDL-receptor class A 6.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCCAGTTTTGATAAATGCAT	0.453		NaN											0	0	0	0.00499	0	18	49				
TLK1	9874	broad.mit.edu	37	2	171913057	171913057	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:171913057G>C	uc002ugn.2	-	6	945	c.473C>G	c.(472-474)TCA>TGA	p.S158*	TLK1_uc002ugo.2_Nonsense_Mutation_p.S179*|TLK1_uc002ugp.2_Nonsense_Mutation_p.S110*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.S62*|TLK1_uc002ugr.1_5'Flank	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	158					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TACTGGACTTGAGCCATTTCC	0.373		NaN											0	0	0	0.00632	0	25	54				
MAP1D	254042	broad.mit.edu	37	2	172928454	172928454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:172928454G>C	uc002uhk.2	+	3	287	c.214G>C	c.(214-216)GAC>CAC	p.D72H	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	72					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AAAGAAGCCAGACTATGTGAC	0.468		NaN											0	0	0	0.009096	0	3	24				
TTN	7273	broad.mit.edu	37	2	179604684	179604684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179604684C>T	uc010zfh.1	-	46	12987	c.12763G>A	c.(12763-12765)GAG>AAG	p.E4255K	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4188K|TTN_uc010zfj.1_Missense_Mutation_p.E4063K|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCGACCTCCACCTTTTCA	0.458		NaN											0	0	0	0.008361	0	31	67				
TTN	7273	broad.mit.edu	37	2	179606140	179606140	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179606140G>C	uc010zfh.1	-	46	11531	c.11307C>G	c.(11305-11307)TTC>TTG	p.F3769L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3702L|TTN_uc010zfj.1_Missense_Mutation_p.F3577L|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCTTAAGGAAGTGAGGAG	0.458		NaN											0	0	0	0.01441	0	61	126				
TTN	7273	broad.mit.edu	37	2	179641337	179641337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179641337G>A	uc010zfg.1	-	28	5478	c.5254C>T	c.(5254-5256)CGT>TGT	p.R1752C	TTN_uc010zfh.1_Missense_Mutation_p.R1706C|TTN_uc010zfi.1_Missense_Mutation_p.R1706C|TTN_uc010zfj.1_Missense_Mutation_p.R1706C|TTN_uc002unb.2_Missense_Mutation_p.R1752C|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1752							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCATACGGAGCCTGTTG	0.483		NaN											0	0	0	0.00278	0	25	41				
SSFA2	6744	broad.mit.edu	37	2	182766801	182766801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:182766801C>T	uc002uoi.2	+	8	1343	c.1021C>T	c.(1021-1023)CAA>TAA	p.Q341*	SSFA2_uc002uoh.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.Q188*|SSFA2_uc002uol.2_Nonsense_Mutation_p.Q188*	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	341						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAAAAACGATCAAAAGTCTCA	0.358		NaN											0	0	0	0.003163	0	14	43				
OSGEPL1	64172	broad.mit.edu	37	2	190619038	190619038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:190619038C>T	uc002uqz.1	-	4	1177	c.643G>A	c.(643-645)GAG>AAG	p.E215K	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	215					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTGGAGCACTCTGGATGTTTT	0.348		NaN											0	0	0	0.00308	0	8	27				
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:191792056G>A	uc002usf.2	+	12	1537	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTGACTTGTGAATCAGCCAG	0.383		NaN											0	0	0	0.00499	0	13	28				
PLCL1	5334	broad.mit.edu	37	2	198950660	198950660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:198950660G>A	uc010fsp.2	+	2	2710	c.2419G>A	c.(2419-2421)GAG>AAG	p.E807K	PLCL1_uc002uuv.3_Missense_Mutation_p.E728K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	807	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CATTGGGGATGAGTTTATAGG	0.423		NaN											0	0	0	0.003755	0	38	75				
SPATS2L	26010	broad.mit.edu	37	2	201342726	201342726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:201342726C>G	uc002uvn.3	+	13	2001	c.1649C>G	c.(1648-1650)TCA>TGA	p.S550*	SPATS2L_uc010fst.2_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvo.3_Nonsense_Mutation_p.S490*|SPATS2L_uc002uvp.3_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvq.3_Nonsense_Mutation_p.S481*|SPATS2L_uc002uvr.3_Nonsense_Mutation_p.S550*|SPATS2L_uc010zhc.1_Nonsense_Mutation_p.S580*	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	550						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GCAGTTCTCTCAGTCCCGGCT	0.562		NaN											0	0	0	0.008291	0	11	15				
ALS2CR4	65062	broad.mit.edu	37	2	202494121	202494121	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:202494121C>G	uc002uyh.1	-	10	802	c.701G>C	c.(700-702)GGA>GCA	p.G234A	ALS2CR4_uc002uyg.1_Missense_Mutation_p.G226A|ALS2CR4_uc010zho.1_Missense_Mutation_p.G29A|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	258	Helical; (Potential).					integral to membrane	protein binding				0						AGCCAAGAATCCATGAGAAAA	0.358		NaN											0	0	0	0.001168	0	6	4				
NBEAL1	65065	broad.mit.edu	37	2	204055050	204055050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:204055050G>C	uc002uzt.3	+	45	7105	c.6772G>C	c.(6772-6774)GAA>CAA	p.E2258Q	NBEAL1_uc002uzs.3_Missense_Mutation_p.E968Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2258	BEACH.						binding			ovary(1)|skin(1)	2						AGATGAGAAAGAAAGAAAAGC	0.353		NaN											0	0	0	0.003755	0	34	83				
PLEKHM3	389072	broad.mit.edu	37	2	208725884	208725884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:208725884C>T	uc002vcl.2	-	7	2543	c.2053G>A	c.(2053-2055)GAA>AAA	p.E685K		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	685	Phorbol-ester/DAG-type.				intracellular signal transduction		metal ion binding			ovary(1)	1						TTACAGATTTCACAGATGAAC	0.408		NaN											0	0	0	0.01441	0	88	41				
PIKFYVE	200576	broad.mit.edu	37	2	209190606	209190606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190606G>A	uc002vcz.2	+	20	3229	c.3071G>A	c.(3070-3072)GGA>GAA	p.G1024E	PIKFYVE_uc010fun.1_Missense_Mutation_p.G705E|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G968E	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1024					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GATGACACTGGATTATATGTT	0.443		NaN											0	0	0	0.01441	0	50	15				
PIKFYVE	200576	broad.mit.edu	37	2	209190762	209190762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190762C>G	uc002vcz.2	+	20	3385	c.3227C>G	c.(3226-3228)TCT>TGT	p.S1076C	PIKFYVE_uc010fun.1_Missense_Mutation_p.S757C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1020C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1076					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						ATGAGATGCTCTACCCGAGAT	0.423		NaN											0	0	0	0.00632	0	27	50				
SPAG16	79582	broad.mit.edu	37	2	214174842	214174842	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:214174842C>T	uc002veq.2	+	4	431	c.339C>T	c.(337-339)CTC>CTT	p.L113L	SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Silent_p.L59L|SPAG16_uc010zjk.1_Intron|SPAG16_uc002veo.2_Silent_p.L113L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.L82L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	113					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGACTTTCTCTGCAATTTCT	0.318		NaN											0	0	0	0.00632	0	27	57				
ABCA12	26154	broad.mit.edu	37	2	215813432	215813432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215813432G>A	uc002vew.2	-	47	7212	c.6992C>T	c.(6991-6993)TCA>TTA	p.S2331L	ABCA12_uc002vev.2_Missense_Mutation_p.S2013L|ABCA12_uc010zjn.1_Missense_Mutation_p.S1258L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2331	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCAACTAATGAGCTGTGAGA	0.418		NaN											0	0	0	0.013726	0	32	63				
ABCA12	26154	broad.mit.edu	37	2	215852376	215852376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215852376G>A	uc002vew.2	-	27	4191	c.3971C>T	c.(3970-3972)TCT>TTT	p.S1324F	ABCA12_uc002vev.2_Missense_Mutation_p.S1006F|ABCA12_uc010zjn.1_Missense_Mutation_p.S251F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1324					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTACTGGCAGATGGGTTGGT	0.408		NaN											0	0	0	0.005443	0	22	38				
ATIC	471	broad.mit.edu	37	2	216200791	216200791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:216200791G>A	uc002vex.3	+	11	1216	c.1042G>A	c.(1042-1044)GAA>AAA	p.E348K	ATIC_uc010zjo.1_Missense_Mutation_p.E289K|ATIC_uc002vey.3_Missense_Mutation_p.E347K	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	348					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGATATGAAGAAGAAGCCTT	0.308		NaN	T	ALK	ALCL								0	0	0	0.01441	0	64	91				
TTLL4	9654	broad.mit.edu	37	2	219602555	219602555	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:219602555C>T	uc002viy.2	+	3	526	c.156C>T	c.(154-156)ATC>ATT	p.I52I	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Silent_p.I52I	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	52					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAAGCCAATCTGGAAGCTGG	0.592		NaN											0	0	0	0.007291	0	30	99				
ATG9A	79065	broad.mit.edu	37	2	220085580	220085580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220085580G>A	uc002vke.1	-	15	2589	c.2403C>T	c.(2401-2403)TTC>TTT	p.F801F	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.F801F	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	801	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCGAGAGAAATGAGAGG	0.582		NaN											0	0	0	0.00499	0	15	49				
SPEG	10290	broad.mit.edu	37	2	220309694	220309694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220309694C>T	uc010fwg.2	+	3	626	c.626C>T	c.(625-627)CCG>CTG	p.P209L	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	209					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCGCCTCCCGGGCAGCCCA	0.716		NaN											0	0	0	0.001168	0	5	12				
SLC4A3	6508	broad.mit.edu	37	2	220494009	220494009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220494009G>A	uc002vmp.3	+	4	630	c.361G>A	c.(361-363)GAG>AAG	p.E121K	SLC4A3_uc002vmn.2_Missense_Mutation_p.E121K|SLC4A3_uc002vmo.3_Missense_Mutation_p.E121K|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	121	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCCCTCCGAGGGGACCCC	0.547		NaN											0	0	0	0.013537	0	13	18				
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:223096999G>A	uc010fwo.2	-	5	956	c.590C>T	c.(589-591)TCA>TTA	p.S197L	PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	197					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.328		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.007413	0	20	118				
IRS1	3667	broad.mit.edu	37	2	227662785	227662785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:227662785C>T	uc002voh.3	-	1	722	c.670G>A	c.(670-672)GAG>AAG	p.E224K		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	224	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGCCCACCTCGATGAAGAAG	0.607		NaN									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	19	27				
UGT1A1	54658	broad.mit.edu	37	2	234669682	234669682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:234669682C>G	uc002vvb.2	+	1	764	c.749C>G	c.(748-750)TCT>TGT	p.S250C	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S250C	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	250					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTATTGAGCTCTGCATCTGTC	0.468		NaN											0	0	0	0.009535	0	29	66				
ANO7	50636	broad.mit.edu	37	2	242135138	242135138	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242135138G>T	uc002wax.2	+	4	452	c.349G>T	c.(349-351)GAG>TAG	p.E117*	ANO7_uc002waw.2_Nonsense_Mutation_p.E116*	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	117	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CCTCGTTTGGGAGGAGGACCT	0.617		NaN											1	0	4.36969e-10	0.001855	4.54565e-10	12	8				
ANO7	50636	broad.mit.edu	37	2	242162689	242162689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242162689G>A	uc002wax.2	+	22	2675	c.2572G>A	c.(2572-2574)GAG>AAG	p.E858K		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	858	Helical; (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CATTGTGTTTGAGGTAGCCGA	0.577		NaN											0	0	0	0.01441	0	47	14				
ANO7	50636	broad.mit.edu	37	2	242163167	242163167	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242163167C>T	uc002wax.2	+	23	2768	c.2665C>T	c.(2665-2667)CTG>TTG	p.L889L		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	889	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GGAGTACTACCTGGCTAAGCA	0.592		NaN											0	0	0	0.001855	0	13	21				
RSPO4	343637	broad.mit.edu	37	20	947851	947851	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:947851G>A	uc002wej.2	-	3	472	c.375C>T	c.(373-375)GGC>GGT	p.G125G	RSPO4_uc002wek.2_Silent_p.G125G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	125	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						GGGCCAAAGTGCCCGGCGGGC	0.652		NaN											0	0	0	0.008291	0	9	27				
SIRPG	55423	broad.mit.edu	37	20	1629746	1629746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:1629746C>T	uc002wfm.1	-	2	447	c.382G>A	c.(382-384)GAG>AAG	p.E128K	SIRPG_uc002wfn.1_Missense_Mutation_p.E128K|SIRPG_uc002wfo.1_Missense_Mutation_p.E128K	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	128	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						TCCACGTTCTCAGGGCTCCCT	0.488		NaN											0	0	0	0.01441	0	47	164				
TGM6	343641	broad.mit.edu	37	20	2413155	2413155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2413155C>T	uc002wfy.1	+	13	2048	c.1987C>T	c.(1987-1989)CAG>TAG	p.Q663*	TGM6_uc010gal.1_Missense_Mutation_p.S618L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	663					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CCTGGAGCCTCAGGAGAGGGC	0.607		NaN											0	0	0	0.008871	0	18	55				
PTPRA	5786	broad.mit.edu	37	20	2945569	2945569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2945569G>C	uc010zqb.1	+	5	529	c.136G>C	c.(136-138)GAG>CAG	p.E46Q	PTPRA_uc002whj.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqd.1_Missense_Mutation_p.E57Q|PTPRA_uc002whl.2_Missense_Mutation_p.E46Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.E46Q			P18433	PTPRA_HUMAN	SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);	46	Extracellular (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AGTTAAAGAAGAGGCCAAAAC	0.388		NaN											0	0	0	0.009535	0	31	71				
PTPRA	5786	broad.mit.edu	37	20	2968991	2968991	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2968991G>A	uc010zqd.1	+	8	959	c.642G>A	c.(640-642)CAG>CAA	p.Q214Q	PTPRA_uc002whj.2_Silent_p.Q203Q|PTPRA_uc010zqc.1_Silent_p.Q88Q|PTPRA_uc002whk.2_Silent_p.Q194Q|PTPRA_uc002whl.2_Silent_p.Q194Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Silent_p.Q194Q|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	203	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.T214I(1)		upper_aerodigestive_tract(1)	1						CAGAGCCCCAGAGTGTGCCAC	0.567		NaN											0	0	0	0.00333	0	22	82				
ADAM33	80332	broad.mit.edu	37	20	3655675	3655675	+	Missense_Mutation	SNP	G	G	A	rs146682885		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3655675G>A	uc002wit.2	-	4	419	c.332C>T	c.(331-333)ACG>ATG	p.T111M	ADAM33_uc002wir.1_Missense_Mutation_p.T111M|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.T111M|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.T110M|ADAM33_uc010zqg.1_Missense_Mutation_p.T110M|ADAM33_uc010zqh.1_Missense_Mutation_p.T111M	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	111	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GCATCTCACCGTGTGGTTGGG	0.622		NaN											0	0	0	0.008291	0	10	17				
PANK2	80025	broad.mit.edu	37	20	3891268	3891268	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3891268G>A	uc002wkc.2	+	3	1032	c.1026G>A	c.(1024-1026)TTG>TTA	p.L342L	PANK2_uc002wkb.2_Silent_p.L51L|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.L51L|PANK2_uc002wkf.2_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	342					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						TAGATTGCTTGATCAAAGGAA	0.353		NaN											0	0	0	0.01441	0	71	116				
ADRA1D	146	broad.mit.edu	37	20	4202235	4202235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:4202235C>T	uc002wkr.2	-	2	1709	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	552	Cytoplasmic (By similarity).			KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GTGGCGCCCTCGGCCACCTCG	0.682		NaN											0	0	0	0.001984	0	7	34				
GPCPD1	56261	broad.mit.edu	37	20	5556510	5556510	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5556510G>C	uc002wme.3	-	9	1033	c.820C>G	c.(820-822)CTT>GTT	p.L274V	GPCPD1_uc002wmd.3_Missense_Mutation_p.L93V	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	274					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						ATGATGGGAAGAGTAAGAATT	0.438		NaN											0	0	0	0.008361	0	31	130				
MCM8	84515	broad.mit.edu	37	20	5935298	5935298	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5935298G>C	uc002wmi.2	+	4	675	c.298G>C	c.(298-300)GAA>CAA	p.E100Q	MCM8_uc002wmj.2_Missense_Mutation_p.E100Q|MCM8_uc002wmk.2_Missense_Mutation_p.E100Q|MCM8_uc002wml.2_Missense_Mutation_p.E100Q|MCM8_uc010gbp.2_Missense_Mutation_p.E100Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	100					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCAAGCATTTGAAAAATTTTT	0.363		NaN											0	0	0	0.00499	0	17	73				
JAG1	182	broad.mit.edu	37	20	10625512	10625512	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:10625512C>T	uc002wnw.2	-	18	2859	c.2343G>A	c.(2341-2343)CAG>CAA	p.Q781Q	JAG1_uc010gcd.1_Silent_p.Q339Q	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	781	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GACACTCACTCTGAGCACAGA	0.592		NaN							Alagille_Syndrome				0	0	0	0.01441	0	50	96				
TASP1	55617	broad.mit.edu	37	20	13550189	13550189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:13550189C>T	uc002woi.2	-	7	650	c.533G>A	c.(532-534)GGA>GAA	p.G178E	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.G155E|TASP1_uc010zrj.1_Intron	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	178					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						AGAGGGTATTCCATGATCTAC	0.333		NaN											0	0	0	0.005443	0	21	98				
KIF16B	55614	broad.mit.edu	37	20	16362382	16362382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:16362382C>T	uc002wpg.1	-	18	1953	c.1795G>A	c.(1795-1797)GAG>AAG	p.E599K	KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Missense_Mutation_p.E599K|KIF16B_uc010gci.1_Missense_Mutation_p.E599K|KIF16B_uc010gcj.1_Missense_Mutation_p.E610K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	599	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TGTTGCCTCTCAAATTCAAGT	0.343		NaN											0	0	0	0.008291	0	10	43				
BFSP1	631	broad.mit.edu	37	20	17479526	17479526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17479526G>A	uc002wpo.2	-	6	934	c.895C>T	c.(895-897)CAG>TAG	p.Q299*	BFSP1_uc002wpp.2_Nonsense_Mutation_p.Q174*|BFSP1_uc010zrn.1_Nonsense_Mutation_p.Q160*|BFSP1_uc010zro.1_Nonsense_Mutation_p.Q160*	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	299	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						AGGGTTTGCTGGGCGACCGCC	0.532		NaN											0	0	0	0.007413	0	19	24				
C20orf72	92667	broad.mit.edu	37	20	17950541	17950541	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17950541C>G	uc002wqh.2	+	2	121	c.39C>G	c.(37-39)CTC>CTG	p.L13L	C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	13											0						GCAGGCAGCTCAGGAGTTCAA	0.408		NaN											0	0	0	0.012319	0	20	83				
CSRP2BP	57325	broad.mit.edu	37	20	18162455	18162455	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:18162455C>T	uc002wqj.2	+	8	2395	c.1773C>T	c.(1771-1773)AGC>AGT	p.S591S	CSRP2BP_uc002wqk.2_Silent_p.S463S|CSRP2BP_uc010zru.1_Silent_p.S462S	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	591					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GTATTGTCAGCCCTTATACCT	0.458		NaN											0	0	0	0.007413	0	20	114				
SLC24A3	57419	broad.mit.edu	37	20	19565642	19565642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:19565642G>A	uc002wrl.2	+	5	648	c.451G>A	c.(451-453)GGG>AGG	p.G151R		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	151	Cytoplasmic (Potential).|Alpha-1.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AGATGTGGCTGGGGCCACATT	0.552		NaN											0	0	0	0.00333	0	16	54				
PAX1	5075	broad.mit.edu	37	20	21687492	21687492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:21687492G>A	uc002wsj.2	+	2	757	c.703G>A	c.(703-705)GAG>AAG	p.E235K	PAX1_uc010zsl.1_Missense_Mutation_p.E235K|PAX1_uc010zsm.1_Missense_Mutation_p.E211K	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	235					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CGGACCGTACGAGGCAAGTAA	0.647		NaN											0	0	0	0.008291	0	5	9				
CST9L	128821	broad.mit.edu	37	20	23549008	23549008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23549008T>C	uc002wtk.3	-	1	379	c.80A>G	c.(79-81)TAT>TGT	p.Y27C		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	27						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATGCCAGGCATAGATCAGCAG	0.567		NaN											0	0	0	0.00499	0	18	33				
CST1	1469	broad.mit.edu	37	20	23728490	23728490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23728490C>G	uc002wtp.2	-	3	460	c.389G>C	c.(388-390)AGA>ACA	p.R130T		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	130						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGACCTTCTGTTCTCCCA	0.542		NaN											0	0	0	0.001855	0	13	41				
ACSS1	84532	broad.mit.edu	37	20	24994205	24994205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:24994205G>A	uc002wub.2	-	10	2424	c.1546C>T	c.(1546-1548)CGA>TGA	p.R516*	ACSS1_uc002wuc.2_Nonsense_Mutation_p.R514*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.R311*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.R433*	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	516					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCACAAATCGCTGGTGGTCG	0.592		NaN											0	0	0	0.000602	0	5	15				
DEFB123	245936	broad.mit.edu	37	20	30037947	30037947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30037947C>A	uc002wvy.2	+	2	265	c.174C>A	c.(172-174)TAC>TAA	p.Y58*		NM_153324	NP_697019	Q8N688	DB123_HUMAN	defensin, beta 123 precursor	58					defense response to bacterium	extracellular region					0	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCCAAGTACCAGCCAAAAG	0.423		NaN											1	0	5.01169e-05	0.00499	5.11301e-05	15	77				
BCL2L1	598	broad.mit.edu	37	20	30309932	30309932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30309932C>T	uc002wwl.2	-	2	456	c.90G>A	c.(88-90)GTG>GTA	p.V30V	BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Silent_p.V30V|BCL2L1_uc002wwn.2_Silent_p.V30V|BCL2L1_uc002wwo.1_Silent_p.V30V	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	BCL2-like 1 isoform 1	30					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			lung(1)|central_nervous_system(1)	2	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TGTTCTCTTCCACATCACTAA	0.527		NaN											0	0	0	0.01441	0	61	77				
FOXS1	2307	broad.mit.edu	37	20	30432733	30432733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30432733C>T	uc002wwt.1	-	1	688	c.613G>A	c.(613-615)GAG>AAG	p.E205K		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	205					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1						ACGGGGAGCTCCCCTGGGCAT	0.612		NaN											0	0	0	0.009096	0	4	36				
XKR7	343702	broad.mit.edu	37	20	30556321	30556321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30556321G>A	uc002wxe.2	+	1	517	c.343G>A	c.(343-345)GAC>AAC	p.D115N		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	115						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTTCGTCTACGACTACTCGGA	0.642		NaN											0	0	0	0.00308	0	8	10				
TM9SF4	9777	broad.mit.edu	37	20	30745699	30745699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30745699G>A	uc002wxj.2	+	14	1667	c.1432G>A	c.(1432-1434)GAC>AAC	p.D478N	TM9SF4_uc010zts.1_Missense_Mutation_p.D385N|TM9SF4_uc002wxk.2_Missense_Mutation_p.D461N|TM9SF4_uc010gdz.2_Missense_Mutation_p.D357N	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	478						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGCCATATGACAACCCTGT	0.592		NaN											0	0	0	0.01441	0	41	57				
CDK5RAP1	51654	broad.mit.edu	37	20	31946862	31946862	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:31946862G>C	uc010gek.2	-	15	1917	c.1793C>G	c.(1792-1794)TCT>TGT	p.S598C	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.S494C|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.S584C|CDK5RAP1_uc002wza.2_Missense_Mutation_p.S583C|CDK5RAP1_uc010gel.2_Missense_Mutation_p.S493C|CDK5RAP1_uc010gem.2_Missense_Mutation_p.S507C|CDK5RAP1_uc002wzc.1_3'UTR|CDK5RAP1_uc002wzb.1_3'UTR	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	598					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						GCAATATGCAGAAGAGTCCCT	0.517		NaN											0	0	0	0.00245	0	15	85				
SNTA1	6640	broad.mit.edu	37	20	32005554	32005554	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32005554C>T	uc002wzd.1	-	3	944	c.672G>A	c.(670-672)AAG>AAA	p.K224K	SNTA1_uc010zuf.1_Silent_p.K224K	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	224	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GGGTGCACCTCTTCGAGACAT	0.607		NaN											0	0	0	0.00333	0	22	47				
C20orf144	128864	broad.mit.edu	37	20	32251342	32251342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32251342G>A	uc002wzs.1	+	2	163	c.131G>A	c.(130-132)AGG>AAG	p.R44K	NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	hypothetical protein LOC128864	44											0						CCCCAGACCAGGATCGTGCTG	0.726		NaN											0	0	0	0.009096	0	3	17				
ITCH	83737	broad.mit.edu	37	20	33077105	33077105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33077105G>A	uc010geu.1	+	22	2443	c.2251G>A	c.(2251-2253)GAA>AAA	p.E751K	ITCH_uc002xak.2_Missense_Mutation_p.E710K|ITCH_uc010zuj.1_Missense_Mutation_p.E600K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	751	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TCGAGGTGTTGAAGAACAGAC	0.348		NaN											0	0	0	0.009535	0	29	92				
DYNLRB1	83658	broad.mit.edu	37	20	33114076	33114076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33114076G>A	uc002xal.2	+	2	67	c.7G>A	c.(7-9)GAG>AAG	p.E3K	DYNLRB1_uc010zuk.1_Missense_Mutation_p.E3K|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_Splice_Site|DYNLRB1_uc002xao.2_RNA	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Roadblock-1	3					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity				0						CTGGCAGGCAGAGGTGGAGGA	0.547		NaN											0	0	0	0.001168	0	5	33				
NCOA6	23054	broad.mit.edu	37	20	33346669	33346669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33346669C>T	uc002xav.2	-	7	3153	c.582G>A	c.(580-582)ATG>ATA	p.M194I	NCOA6_uc002xaw.2_Missense_Mutation_p.M194I|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	194	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CTGGTGCCATCATGGAAGATG	0.478		NaN											0	0	0	0.010504	0	20	90				
GSS	2937	broad.mit.edu	37	20	33533875	33533875	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33533875G>A	uc002xbg.2	-	3	236	c.156C>T	c.(154-156)CTC>CTT	p.L52L	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Silent_p.L52L|GSS_uc010zup.1_Intron|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	52					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567		NaN											0	0	0	0.005443	0	25	133				
TRPC4AP	26133	broad.mit.edu	37	20	33591402	33591402	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33591402G>C	uc002xbk.2	-	18	2101	c.2067C>G	c.(2065-2067)CTC>CTG	p.L689L	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.L280L|TRPC4AP_uc002xbl.2_Silent_p.L681L|TRPC4AP_uc010zur.1_Silent_p.L650L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	689					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCTGGTGTTGAGGCAGCTGA	0.662		NaN											0	0	0	0.001168	0	5	24				
EIF6	3692	broad.mit.edu	37	20	33872046	33872046	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33872046G>A	uc002xbv.1	-	2	342	c.126C>T	c.(124-126)CTC>CTT	p.L42L	EIF6_uc002xbx.1_Silent_p.L42L|EIF6_uc002xbz.1_Missense_Mutation_p.S82F|EIF6_uc002xby.1_RNA	NM_181468	NP_852133	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	42					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGTATCGGAGAGCTCGCCCT	0.677		NaN											0	0	0	0.003163	0	14	56				
FAM83C	128876	broad.mit.edu	37	20	33879833	33879833	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33879833C>T	uc010zux.1	-	1	393	c.275G>A	c.(274-276)AGC>AAC	p.S92N	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	92										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGAGCCTCGCTGAGCTCAGG	0.662		NaN											0	0	0	0.006214	0	8	45				
CEP250	11190	broad.mit.edu	37	20	34057761	34057761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:34057761G>A	uc002xcm.2	+	11	1569	c.898G>A	c.(898-900)GAA>AAA	p.E300K	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.E107K	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	300	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGCAAAATGAAGATTATGA	0.488		NaN											0	0	0	0.004878	0	34	57				
RBL1	5933	broad.mit.edu	37	20	35627227	35627227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:35627227G>A	uc002xgi.2	-	22	3221	c.3142C>T	c.(3142-3144)CAA>TAA	p.Q1048*	RBL1_uc010zvt.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	1048					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TCATTTTCTTGACAGACGCGT	0.398		NaN											0	0	0	0.01441	0	59	85				
FAM83D	81610	broad.mit.edu	37	20	37576568	37576568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576568G>A	uc002xjg.2	+	3	832	c.791G>A	c.(790-792)GGA>GAA	p.G264E		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	234					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GCAAGGTCAGGAACTAAGATT	0.438		NaN											0	0	0	0.003755	0	34	125				
FAM83D	81610	broad.mit.edu	37	20	37576605	37576605	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576605G>A	uc002xjg.2	+	3	869	c.828G>A	c.(826-828)ACG>ACA	p.T276T		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	246					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				AAAAGTTCACGTTGATTGATG	0.438		NaN											0	0	0	0.006122	0	19	108				
EMILIN3	90187	broad.mit.edu	37	20	39990348	39990348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:39990348C>T	uc002xjy.1	-	4	2085	c.1861G>A	c.(1861-1863)GAG>AAG	p.E621K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	621	Potential.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CGTTCCCGCTCATCCAGGGAC	0.592		NaN											0	0	0	0.008361	0	29	35				
TOMM34	10953	broad.mit.edu	37	20	43571786	43571786	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43571786C>T	uc002xmy.2	-	7	1034	c.894G>A	c.(892-894)CAG>CAA	p.Q298Q	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	298					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				GCCGCAACTTCTGTGCAGGAC	0.507		NaN											0	0	0	0.003163	0	12	70				
STK4	6789	broad.mit.edu	37	20	43623860	43623860	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43623860G>A	uc002xnb.2	+	6	745	c.655G>A	c.(655-657)GAA>AAA	p.E219K	STK4_uc010ggx.2_Missense_Mutation_p.E219K|STK4_uc010ggy.2_Missense_Mutation_p.E164K|STK4_uc010ggw.1_Missense_Mutation_p.E219K	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	219	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				AGAAATGGCTGAAGGAAAGCC	0.443		NaN											0	0	0	0.008871	0	20	73				
WFDC13	164237	broad.mit.edu	37	20	44330765	44330765	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44330765G>A	uc002xpd.2	+	1	111	c.3G>A	c.(1-3)ATG>ATA	p.M1I	WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13 precursor	1						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				CTGACACCATGAAGCCTGTGC	0.567		NaN											0	0	0	0.001168	0	6	15				
ZMYND8	23613	broad.mit.edu	37	20	45976605	45976605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:45976605G>A	uc002xta.1	-	2	274	c.20C>T	c.(19-21)TCC>TTC	p.S7F	ZMYND8_uc010ghr.1_Missense_Mutation_p.S7F|ZMYND8_uc002xst.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsz.1_Missense_Mutation_p.S7F|ZMYND8_uc010zxy.1_Missense_Mutation_p.S34F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S27F|ZMYND8_uc002xss.2_Missense_Mutation_p.S32F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S27F|ZMYND8_uc002xte.1_Missense_Mutation_p.S7F|ZMYND8_uc010zya.1_Missense_Mutation_p.S7F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S27F|ZMYND8_uc010ghs.1_Missense_Mutation_p.S26F|ZMYND8_uc002xth.2_Missense_Mutation_p.S27F	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	7							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCACCTTTGGAGCGAGTAGA	0.393		NaN											0	0	0	0.01441	0	56	97				
CSE1L	1434	broad.mit.edu	37	20	47675013	47675013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:47675013G>A	uc002xty.2	+	2	147	c.13G>A	c.(13-15)GAT>AAT	p.D5N	CSE1L_uc010zyg.1_5'UTR|CSE1L_uc010ghx.2_Missense_Mutation_p.D5N	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	5					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAACTCAGCGATGCAAATCT	0.333		NaN											0	0	0	0.008871	0	19	101				
SLC9A8	23315	broad.mit.edu	37	20	48466215	48466215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:48466215C>T	uc002xuv.1	+	6	742	c.532C>T	c.(532-534)CAG>TAG	p.Q178*	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyk.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyl.1_Nonsense_Mutation_p.Q150*|SLC9A8_uc010gib.1_Intron	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTCTGGGTCAGGTAAGAAA	0.443		NaN											0	0	0	0.007291	0	29	54				
CEBPB	1051	broad.mit.edu	37	20	48808497	48808497	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:48808497G>A	uc002xvi.1	+	1	1122	c.927G>A	c.(925-927)GAG>GAA	p.E309E	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	309	Leucine-zipper.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCACGGCCGAGAACGAGCGGC	0.662		NaN											0	0	0	0.001984	0	5	7				
FAM65C	140876	broad.mit.edu	37	20	49212713	49212713	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:49212713C>T	uc002xvm.2	-	15	2184	c.1866G>A	c.(1864-1866)CTG>CTA	p.L622L	FAM65C_uc010zyt.1_Silent_p.L626L|FAM65C_uc010zyu.1_RNA	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	622										ovary(2)	2						GGTGTACCATCAGCAGCACGT	0.597		NaN											0	0	0	0.007835	0	41	52				
SALL4	57167	broad.mit.edu	37	20	50401020	50401020	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:50401020C>T	uc002xwh.3	-	4	3047	c.2946G>A	c.(2944-2946)GTG>GTA	p.V982V	SALL4_uc010gii.2_Silent_p.V545V|SALL4_uc002xwi.3_Silent_p.V205V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	982					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CATTGGTCTTCACGGCCAGAC	0.547		NaN											0	0	0	0.007835	0	39	71				
CYP24A1	1591	broad.mit.edu	37	20	52788164	52788164	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:52788164T>C	uc002xwv.2	-	3	893	c.495A>G	c.(493-495)AAA>AAG	p.K165K	CYP24A1_uc002xwu.1_Silent_p.K23K|CYP24A1_uc002xww.2_Silent_p.K165K	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	165					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTTCATTAGTTTCTTTTGAA	0.498		NaN											0	0	0	0.006999	0	40	170				
SPO11	23626	broad.mit.edu	37	20	55918412	55918412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:55918412G>A	uc002xye.2	+	13	1180	c.1087G>A	c.(1087-1089)GAC>AAC	p.D363N	SPO11_uc002xyf.2_Missense_Mutation_p.D325N	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	363					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AATAATGGCAGACTCTAAAAT	0.323		NaN						Editing_and_processing_nucleases					0	0	0	0.01441	0	48	91				
VAPB	9217	broad.mit.edu	37	20	56993382	56993382	+	Silent	SNP	C	C	T	rs139149560	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:56993382C>T	uc002xza.2	+	2	445	c.174C>T	c.(172-174)AGC>AGT	p.S58S	VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_5'UTR|VAPB_uc002xzc.2_Silent_p.S58S	NM_004738	NP_004729	O95292	VAPB_HUMAN	VAMP-associated protein B/C	58	Cytoplasmic (Potential).|MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(1)	1	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GGCCCAACAGCGGAATCATCG	0.517		NaN											0	0	0	0.008871	0	20	112				
CDH4	1002	broad.mit.edu	37	20	60448896	60448896	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60448896G>T	uc002ybn.1	+	7	1004	c.990G>T	c.(988-990)ATG>ATT	p.M330I	CDH4_uc002ybp.1_Missense_Mutation_p.M256I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	330	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAGAATATGTTCACCATCA	0.642		NaN											1	0	1.64293e-13	0.00333	1.72147e-13	22	85				
LAMA5	3911	broad.mit.edu	37	20	60893546	60893546	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60893546G>A	uc002ycq.2	-	53	7270	c.7203C>T	c.(7201-7203)CTC>CTT	p.L2401L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2401	Domain II and I.|Potential.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCGGCTGTTGAGCTCCTGGG	0.672		NaN											0	0	0	0.004007	0	11	11				
LAMA5	3911	broad.mit.edu	37	20	60908290	60908290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60908290G>A	uc002ycq.2	-	26	3205	c.3138C>T	c.(3136-3138)CTC>CTT	p.L1046L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1046	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTGTGTAGAGGAGGCAGC	0.716		NaN											0	0	0	0.00308	0	8	18				
LAMA5	3911	broad.mit.edu	37	20	60910092	60910092	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60910092A>G	uc002ycq.2	-	20	2534	c.2467T>C	c.(2467-2469)TAT>CAT	p.Y823H		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	823	Laminin EGF-like 10.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCAAAATAGTCAGCCTGA	0.652		NaN											0	0	0	0.001984	0	6	17				
ARFRP1	10139	broad.mit.edu	37	20	62338434	62338434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62338434G>C	uc002yga.2	-	1	577	c.10C>G	c.(10-12)CTG>GTG	p.L4V	ARFRP1_uc002ygc.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygh.3_Missense_Mutation_p.L4V|ARFRP1_uc011abf.1_Missense_Mutation_p.L4V|ARFRP1_uc011abg.1_Missense_Mutation_p.L4V|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	4					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCGACAGCAGCGTGTACATC	0.443		NaN											0	0	0	0.001984	0	5	7				
ZGPAT	84619	broad.mit.edu	37	20	62340319	62340319	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62340319G>A	uc002ygk.2	+	2	565	c.387G>A	c.(385-387)CTG>CTA	p.L129L	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.L129L|ZGPAT_uc002ygj.2_Silent_p.L129L|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.L129L|ZGPAT_uc002ygm.2_Silent_p.L129L|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	129					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					aggaagagCTGAGTGGGACAA	0.537		NaN											0	0	0	0.004007	0	17	45				
LIPI	149998	broad.mit.edu	37	21	15561684	15561684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15561684C>T	uc002yjm.2	-	2	176	c.166G>A	c.(166-168)GAT>AAT	p.D56N	LIPI_uc010gkw.1_5'UTR	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	35					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAATCTCTGAAGGAA	0.353		NaN											0	0	0	0.009718	0	40	153				
RBM11	54033	broad.mit.edu	37	21	15599290	15599290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599290G>A	uc002yjo.3	+	5	564	c.522G>A	c.(520-522)CTG>CTA	p.L174L	RBM11_uc002yjn.3_Silent_p.L60L|RBM11_uc002yjp.3_Silent_p.L60L	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	174							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.453		NaN											0	0	0	0.01441	0	69	273				
RBM11	54033	broad.mit.edu	37	21	15599416	15599416	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599416G>A	uc002yjo.3	+	5	690	c.648G>A	c.(646-648)CTG>CTA	p.L216L	RBM11_uc002yjn.3_Silent_p.L102L|RBM11_uc002yjp.3_Silent_p.L102L	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	216							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.443		NaN											0	0	0	0.004482	0	8	395				
NRIP1	8204	broad.mit.edu	37	21	16338443	16338443	+	Missense_Mutation	SNP	G	G	T	rs61755058	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16338443G>T	uc002yjx.2	-	4	2669	c.2071C>A	c.(2071-2073)CCA>ACA	p.P691T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	691	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGACCTGTTGGTTGACTACTA	0.398		NaN											1	0	3.62473e-10	0.012319	3.77431e-10	22	89				
NRIP1	8204	broad.mit.edu	37	21	16339706	16339706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16339706G>A	uc002yjx.2	-	4	1406	c.808C>T	c.(808-810)CTG>TTG	p.L270L		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	270	LXXLL motif 4.|Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCGCTTGACAGAAGTAATGCT	0.463		NaN											0	0	0	0.01441	0	68	122				
APP	351	broad.mit.edu	37	21	27326925	27326925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27326925C>T	uc002ylz.2	-	13	1866	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K	APP_uc011acg.1_Missense_Mutation_p.E64K|APP_uc010glk.2_Missense_Mutation_p.E532K|APP_uc002yma.2_Missense_Mutation_p.E537K|APP_uc011ach.1_Missense_Mutation_p.E500K|APP_uc002ymb.2_Missense_Mutation_p.E481K|APP_uc010glj.2_Missense_Mutation_p.E425K|APP_uc011aci.1_Missense_Mutation_p.E446K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	556	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGAATCTCCTCGGCCACTGCA	0.463		NaN											0	0	0	0.010729	0	12	25				
APP	351	broad.mit.edu	37	21	27423431	27423431	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27423431C>G	uc002ylz.2	-	5	747	c.547G>C	c.(547-549)GAG>CAG	p.E183Q	APP_uc010glk.2_Missense_Mutation_p.E178Q|APP_uc002yma.2_Missense_Mutation_p.E183Q|APP_uc011ach.1_Missense_Mutation_p.E127Q|APP_uc002ymb.2_Missense_Mutation_p.E183Q|APP_uc010glj.2_Missense_Mutation_p.E127Q|APP_uc011aci.1_Missense_Mutation_p.E148Q|APP_uc011acj.1_Missense_Mutation_p.E183Q	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	183	Extracellular (Potential).|Zinc-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				CACACAAACTCTACCCCTCGG	0.512		NaN											0	0	0	0.001168	0	6	54				
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:30949385C>G	uc002yno.1	-	14	2493	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448		NaN											0	0	0	0.00278	0	24	105				
DNAJC28	54943	broad.mit.edu	37	21	34860800	34860800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:34860800G>C	uc002yrv.2	-	2	1350	c.901C>G	c.(901-903)CAA>GAA	p.Q301E	DNAJC28_uc002yrw.2_Missense_Mutation_p.Q301E	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	301	Potential.						heat shock protein binding				0						ATGTTTTCTTGAAACTGCTCA	0.353		NaN											0	0	0	0.01441	0	103	125				
RCAN1	1827	broad.mit.edu	37	21	35895867	35895867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895867G>C	uc002yue.2	-	2	466	c.394C>G	c.(394-396)CTG>GTG	p.L132V	RCAN1_uc002yuc.2_Missense_Mutation_p.L51V|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Missense_Mutation_p.L77V|RCAN1_uc011adx.1_Missense_Mutation_p.L77V	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	132					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TCCTTTCCCAGAAACTCAGTC	0.453		NaN											0	0	0	0.010818	0	32	53				
RCAN1	1827	broad.mit.edu	37	21	35895991	35895991	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895991G>C	uc002yue.2	-	2	342	c.270C>G	c.(268-270)CTC>CTG	p.L90L	RCAN1_uc002yuc.2_Silent_p.L9L|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Silent_p.L35L|RCAN1_uc011adx.1_Silent_p.L35L	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	90					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						ACGTCCTAAAGAGGGACTCAA	0.378		NaN											0	0	0	0.008361	0	30	59				
RUNX1	861	broad.mit.edu	37	21	36252962	36252962	+	Missense_Mutation	SNP	C	C	G	rs74315451		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:36252962C>G	uc002yuh.2	-	2	1897	c.319G>C	c.(319-321)GCT>CCT	p.A107P	RUNX1_uc002yui.2_Missense_Mutation_p.A107P|RUNX1_uc010gmu.2_Missense_Mutation_p.A134P|RUNX1_uc010gmv.2_Missense_Mutation_p.A134P|RUNX1_uc002yuj.3_Missense_Mutation_p.A2P|RUNX1_uc002yuk.3_Missense_Mutation_p.A134P|RUNX1_uc002yum.1_Missense_Mutation_p.A2P|RUNX1_uc010gmw.1_Missense_Mutation_p.A134P|RUNX1_uc002yuo.1_Missense_Mutation_p.A107P|RUNX1_uc002yur.1_Missense_Mutation_p.A2P	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	107	Runt.			A->T: Loss of heterodimerization.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R107C(12)|p.R107H(2)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TCATTGCCAGCCATCACAGTG	0.488		NaN	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				0	0	0	0.007413	0	19	20				
DOPEY2	9980	broad.mit.edu	37	21	37642413	37642413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:37642413C>T	uc002yvg.2	+	27	5669	c.5590C>T	c.(5590-5592)CAG>TAG	p.Q1864*	DOPEY2_uc011aeb.1_Nonsense_Mutation_p.Q1813*	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1864					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GGCCCAACCTCAGGCCTCTCT	0.527		NaN											0	0	0	0.01441	0	61	62				
ETS2	2114	broad.mit.edu	37	21	40191551	40191551	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:40191551G>A	uc002yxg.2	+	8	1132	c.936G>A	c.(934-936)GAG>GAA	p.E312E	ETS2_uc002yxf.2_Silent_p.E452E	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	312					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTTCCTTCGAGAGCTTCGAAG	0.547		NaN											0	0	0	0.001984	0	7	20				
MX2	4600	broad.mit.edu	37	21	42778893	42778893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42778893G>A	uc002yzf.1	+	13	1977	c.1873G>A	c.(1873-1875)GAA>AAA	p.E625K	MX2_uc002yzg.1_Missense_Mutation_p.E348K|MX2_uc010gop.1_Missense_Mutation_p.E107K	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	625	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCCTTTACTGAAATAGGCAT	0.488		NaN											0	0	0	0.010771	0	41	41				
MX1	4599	broad.mit.edu	37	21	42821118	42821118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42821118G>A	uc002yzh.2	+	16	2275	c.1328G>A	c.(1327-1329)AGA>AAA	p.R443K	MX1_uc002yzi.2_Missense_Mutation_p.R443K|MX1_uc010goq.2_Missense_Mutation_p.R443K	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	443					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TATCGTGGTAGAGAGCTGCCA	0.383		NaN											0	0	0	0.012319	0	20	81				
UBASH3A	53347	broad.mit.edu	37	21	43867289	43867289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867289G>C	uc002zbe.2	+	15	2007	c.1971G>C	c.(1969-1971)TGG>TGC	p.W657C	UBASH3A_uc002zbf.2_Missense_Mutation_p.W619C|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	657	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						GGAGGAACTGGATCTCAGGCA	0.527		NaN											0	0	0	0.004289	0	38	107				
UBASH3A	53347	broad.mit.edu	37	21	43867303	43867303	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867303G>T	uc002zbe.2	+	15	2021	c.1985G>T	c.(1984-1986)TGA>TTA	p.*662L	UBASH3A_uc002zbf.2_Nonstop_Mutation_p.*624L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	662						cytosol|nucleus				ovary(3)	3						TCAGGCAACTGAGAGCCACGG	0.542		NaN											1	0	6.00712e-18	0.012213	6.34329e-18	34	98				
TRAPPC10	7109	broad.mit.edu	37	21	45503018	45503018	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503018G>C	uc002zea.2	+	14	2242	c.2073G>C	c.(2071-2073)ACG>ACC	p.T691T	TRAPPC10_uc010gpo.2_Silent_p.T402T|TRAPPC10_uc011afa.1_Silent_p.T110T	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	691					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCTTGAACACGACTGGGATTA	0.547		NaN											0	0	0	0.00333	0	26	72				
TRAPPC10	7109	broad.mit.edu	37	21	45503079	45503079	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503079C>T	uc002zea.2	+	14	2303	c.2134C>T	c.(2134-2136)CTA>TTA	p.L712L	TRAPPC10_uc010gpo.2_Silent_p.L423L|TRAPPC10_uc011afa.1_Silent_p.L131L	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	712					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CAGCTCCTCTCTAGAGATGCC	0.557		NaN											0	0	0	0.01441	0	72	80				
TRAPPC10	7109	broad.mit.edu	37	21	45503092	45503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503092C>T	uc002zea.2	+	14	2316	c.2147C>T	c.(2146-2148)TCA>TTA	p.S716L	TRAPPC10_uc010gpo.2_Missense_Mutation_p.S427L|TRAPPC10_uc011afa.1_Missense_Mutation_p.S135L	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	716					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GAGATGCCCTCAGGGGTGGCT	0.567		NaN											0	0	0	0.01441	0	79	91				
TRPM2	7226	broad.mit.edu	37	21	45789113	45789113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45789113G>A	uc002zet.1	+	6	871	c.658G>A	c.(658-660)GAG>AAG	p.E220K	TRPM2_uc002zeu.1_Missense_Mutation_p.E220K|TRPM2_uc002zew.1_Missense_Mutation_p.E220K|TRPM2_uc010gpt.1_Missense_Mutation_p.E220K|TRPM2_uc002zex.1_Missense_Mutation_p.E6K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	220	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCAGGTAGGCGAGGCGGTGCG	0.682		NaN											0	0	0	0.001168	0	5	9				
CCT8L2	150160	broad.mit.edu	37	22	17072537	17072537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:17072537C>T	uc002zlp.1	-	1	1164	c.904G>A	c.(904-906)GAG>AAG	p.E302K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	302					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGAGGGTCTCCTCGTCGACC	0.493		NaN											0	0	0	0.007835	0	36	88				
PEX26	55670	broad.mit.edu	37	22	18566437	18566437	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:18566437G>A	uc002znp.3	+	4	815	c.606G>A	c.(604-606)GCG>GCA	p.A202A	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.A202A|PEX26_uc002znt.2_Silent_p.A202A	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	202	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						TTCACACAGCGAGGCAGCAGC	0.572		NaN											0	0	0	0.006122	0	15	24				
HIRA	7290	broad.mit.edu	37	22	19418988	19418988	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:19418988C>T	uc002zpf.1	-	1	232	c.12G>A	c.(10-12)CTG>CTA	p.L4L	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Silent_p.L4L|HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zpg.2_5'Flank|MRPL40_uc002zph.2_5'Flank	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	4					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					AGGTCGGCTTCAGGAGCTTCA	0.557		NaN											0	0	0	0.00308	0	7	12				
SERPIND1	3053	broad.mit.edu	37	22	21141329	21141329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:21141329G>A	uc002ztb.1	+	5	1542	c.1475G>A	c.(1474-1476)AGA>AAA	p.R492K	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.R520K	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	492					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TTCATGGGAAGAGTGGCCAAC	0.562		NaN											0	0	0	0.004482	0	7	37				
SMARCB1	6598	broad.mit.edu	37	22	24159103	24159103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24159103G>A	uc002zyb.2	+	6	982	c.775G>A	c.(775-777)GAC>AAC	p.D259N	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.D250N|SMARCB1_uc002zyd.2_Missense_Mutation_p.D268N	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	259	2.|2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(3)|p.D259fs*26(1)|p.E210fs*15(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGACCAGTCAGACCAGCGCGT	0.582		NaN	D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				0	0	0	0.013537	0	11	40				
UPB1	51733	broad.mit.edu	37	22	24917979	24917979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24917979C>T	uc003aaf.2	+	8	1020	c.899C>T	c.(898-900)TCG>TTG	p.S300L	UPB1_uc003aae.2_Missense_Mutation_p.S232L|UPB1_uc011ajt.1_Missense_Mutation_p.S300L	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	300	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					GAGTTTACCTCGGGAGATGGA	0.522		NaN									OREG0026411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	21				
LRP5L	91355	broad.mit.edu	37	22	25747768	25747768	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:25747768A>T	uc003abs.2	-	4	3222	c.757T>A	c.(757-759)TGA>AGA	p.*253R	LRP5L_uc011ajz.1_Nonstop_Mutation_p.*253R|LRP5L_uc010guw.1_Silent_p.A223A	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	253											0						CATGTCACTCAGCAGTTCCAG	0.577		NaN											0	0	0	0.008871	0	18	49				
NEFH	4744	broad.mit.edu	37	22	29886470	29886470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:29886470G>C	uc003afo.2	+	4	2912	c.2841G>C	c.(2839-2841)AAG>AAC	p.K947N	NEFH_uc003afp.2_Missense_Mutation_p.R13T	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	953	Tail.				cell death|nervous system development	neurofilament					0						CAGCAGAGAAGAAGGAGGCAG	0.512		NaN											0	0	0	0.00245	0	15	31				
ASCC2	84164	broad.mit.edu	37	22	30198101	30198101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30198101C>T	uc003agr.2	-	14	1555	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	ASCC2_uc003ags.2_Intron|ASCC2_uc003agt.2_Missense_Mutation_p.E484K|ASCC2_uc011akr.1_Missense_Mutation_p.E408K	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	484	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATGAAGCCCTCACCAAGGTCT	0.617		NaN											0	0	0	0.001984	0	5	33				
MTP18	51537	broad.mit.edu	37	22	30822716	30822716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30822716G>A	uc003ahw.1	+	2	227	c.79G>A	c.(79-81)GAG>AAG	p.E27K	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E189K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E27K	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	27					apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						CTATGCCAATGAGGTGGGCGA	0.478		NaN									OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	7	19				
PATZ1	23598	broad.mit.edu	37	22	31738885	31738885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:31738885G>A	uc003akq.2	-	2	1994	c.1333C>T	c.(1333-1335)CAG>TAG	p.Q445*	PATZ1_uc003akp.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003akr.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003aks.2_Nonsense_Mutation_p.Q445*	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	445	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GCCCCTACCTGACACTTGTGA	0.582		NaN											0	0	0	0.004656	0	23	89				
SLC5A1	6523	broad.mit.edu	37	22	32495203	32495203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:32495203C>T	uc003amc.2	+	12	1546	c.1314C>T	c.(1312-1314)ATC>ATT	p.I438I	SLC5A1_uc011alz.1_Silent_p.I311I	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	438	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GCATCAGCATCGCCTGGGTGC	0.453		NaN											0	0	0	0.011902	0	47	127				
APOL5	80831	broad.mit.edu	37	22	36122285	36122285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122285G>A	uc003aof.2	+	3	170	c.170G>A	c.(169-171)TGG>TAG	p.W57*		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	57					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						TGCCAGAGTTGGAAAATTAAC	0.453		NaN											0	0	0	0.00245	0	14	54				
APOL5	80831	broad.mit.edu	37	22	36122301	36122301	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122301G>A	uc003aof.2	+	3	186	c.186G>A	c.(184-186)TTG>TTA	p.L62L		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	62					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						TTAACAATTTGATGTCAACTG	0.458		NaN											0	0	0	0.012213	0	30	34				
MYH9	4627	broad.mit.edu	37	22	36690984	36690984	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36690984C>T	uc003apg.2	-	27	3855	c.3624G>A	c.(3622-3624)ACG>ACA	p.T1208T		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1208	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCACCCGCTTCGTCTGCTCCA	0.587		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.013726	0	31	74				
NCF4	4689	broad.mit.edu	37	22	37268449	37268449	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37268449C>G	uc003apy.3	+	7	793	c.609C>G	c.(607-609)ATC>ATG	p.I203M	NCF4_uc003apz.3_Missense_Mutation_p.I203M	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	203	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						TCAGTCGGATCAACAAAGACT	0.254		NaN											0	0	0	0.005443	0	26	62				
CSF2RB	1439	broad.mit.edu	37	22	37331726	37331726	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37331726C>T	uc003aqa.3	+	12	1678	c.1461C>T	c.(1459-1461)TTC>TTT	p.F487F	CSF2RB_uc003aqc.3_Silent_p.F493F	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	487	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GCCACCTGTTCCAGGTAGGAA	0.612		NaN											0	0	0	0.000602	0	5	14				
CYTH4	27128	broad.mit.edu	37	22	37688736	37688736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37688736G>A	uc003arf.2	+	2	210	c.94G>A	c.(94-96)GAC>AAC	p.D32N	CYTH4_uc003ard.3_Missense_Mutation_p.D32N|CYTH4_uc003are.2_Missense_Mutation_p.D32N|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	32	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GCTCCTGGAGGACATCCAGGT	0.617		NaN											0	0	0	0.014323	0	23	22				
PDGFB	5155	broad.mit.edu	37	22	39629484	39629484	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39629484G>C	uc003axf.2	-	3	1195	c.206C>G	c.(205-207)TCT>TGT	p.S69C	PDGFB_uc003axe.2_Missense_Mutation_p.S54C	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	69					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	CTCGCCTCCAGAGTGGGAGCG	0.607		NaN	T	COL1A1	DFSP								0	0	0	0.006214	0	10	34				
PDGFB	5155	broad.mit.edu	37	22	39639936	39639936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39639936G>A	uc003axf.2	-	1	1022	c.33C>T	c.(31-33)CTC>CTT	p.L11L		NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	11					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GGTAGCAGCAGAGAGACAGGA	0.582		NaN	T	COL1A1	DFSP								0	0	0	0.004672	0	3	8				
CACNA1I	8911	broad.mit.edu	37	22	40061947	40061947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40061947C>T	uc003ayc.2	+	23	4040	c.4040C>T	c.(4039-4041)TCG>TTG	p.S1347L	CACNA1I_uc003ayd.2_Missense_Mutation_p.S1312L|CACNA1I_uc003aye.2_Missense_Mutation_p.S1262L|CACNA1I_uc003ayf.2_Missense_Mutation_p.S1227L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1347	Extracellular (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCAACCGCTCGGACTGCATG	0.597		NaN											0	0	0	0.004482	0	8	23				
CACNA1I	8911	broad.mit.edu	37	22	40078519	40078519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40078519G>A	uc003ayc.2	+	35	5683	c.5683G>A	c.(5683-5685)GAG>AAG	p.E1895K	CACNA1I_uc003ayd.2_Missense_Mutation_p.E1860K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1810K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1775K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1895	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACCCACCTGAGCCCATGCG	0.607		NaN											0	0	0	0.007291	0	23	50				
GRAP2	9402	broad.mit.edu	37	22	40343156	40343156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40343156G>A	uc003ayh.1	+	2	309	c.46G>A	c.(46-48)GAA>AAA	p.E16K	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.E16K|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.E16K|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.E16K	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	16	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						AGGTGAGGATGAACTGAGCTT	0.498		NaN											0	0	0	0.010504	0	20	48				
TNRC6B	23112	broad.mit.edu	37	22	40662285	40662285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40662285C>G	uc011aor.1	+	5	2262	c.2051C>G	c.(2050-2052)TCA>TGA	p.S684*	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S684*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S488*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	684					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GGGGAGCTCTCAGCCTCTACA	0.552		NaN											0	0	0	0.004672	0	3	4				
SGSM3	27352	broad.mit.edu	37	22	40805700	40805700	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40805700G>A	uc003ayu.1	+	22	2396	c.2187G>A	c.(2185-2187)CTG>CTA	p.L729L	SGSM3_uc011aot.1_Silent_p.L640L|SGSM3_uc010gyd.1_Silent_p.L800L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	729					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						AGCAGCCCCTGAAGGAGGGCG	0.662		NaN											0	0	0	0.010504	0	16	38				
PKDREJ	10343	broad.mit.edu	37	22	46654093	46654093	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:46654093C>G	uc003bhh.2	-	1	5127	c.5127G>C	c.(5125-5127)CTG>CTC	p.L1709L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1709	Helical; (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCAGAAACAGGAGTGCTC	0.403		NaN											0	0	0	0.006214	0	9	89				
TRABD	80305	broad.mit.edu	37	22	50635718	50635718	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:50635718G>A	uc003bjq.1	+	6	555	c.469G>A	c.(469-471)GCA>ACA	p.A157T	TRABD_uc003bjr.1_Missense_Mutation_p.A41T|TRABD_uc003bjs.1_Missense_Mutation_p.A157T|TRABD_uc003bjt.1_Missense_Mutation_p.A157T|TRABD_uc003bju.1_Missense_Mutation_p.A157T|TRABD_uc003bjv.2_Missense_Mutation_p.A157T|TRABD_uc003bjw.1_Missense_Mutation_p.A157T	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	157											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGGTGTCTGCACACATCAC	0.662		NaN											0	0	0	0.008291	0	11	37				
BHLHE40	8553	broad.mit.edu	37	3	5022016	5022016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:5022016G>A	uc003bqf.2	+	3	488	c.181G>A	c.(181-183)GAG>AAG	p.E61K	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	61	Basic motif.					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGGCTCATCGAGAAAAAGAG	0.567		NaN									OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00874	0	38	7				
SRGAP3	9901	broad.mit.edu	37	3	9055453	9055453	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9055453C>G	uc003brf.1	-	16	2563	c.1887G>C	c.(1885-1887)GTG>GTC	p.V629V	SRGAP3_uc003brg.1_Silent_p.V605V	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	629	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATCTCATGACCACAATGACCA	0.552		NaN	T	RAF1	pilocytic astrocytoma								0	0	0	0.004482	0	6	111				
CAMK1	8536	broad.mit.edu	37	3	9803376	9803376	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9803376G>A	uc003bst.2	-	6	673	c.495C>T	c.(493-495)CTC>CTT	p.L165L	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	165	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCATCTTGGAGAGGCCAAAGT	0.602		NaN											0	0	0	0.00623	0	40	86				
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9959040G>A	uc003bua.2	+	1	277	c.41G>A	c.(40-42)CGA>CAA	p.R14Q	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.R14Q|IL17RC_uc003btz.2_Missense_Mutation_p.R14Q|IL17RC_uc011atp.1_5'UTR|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.R14Q|IL17RC_uc010hct.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcu.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcv.2_Missense_Mutation_p.R14Q|IL17RC_uc011atq.1_Missense_Mutation_p.R14Q|IL17RC_uc003buc.2_5'UTR	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	14						integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GCACTGGGCCGAAGCCCAGTG	0.657		NaN											0	0	0	0.00499	0	12	70				
CRELD1	78987	broad.mit.edu	37	3	9986069	9986069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9986069G>A	uc003bug.2	+	11	1187	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.Q421Q|CRELD1_uc003buh.2_Missense_Mutation_p.E357K|CRELD1_uc003bui.2_Missense_Mutation_p.E357K|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	357	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CTTCTTCTCAGAGATGACAGA	0.547		NaN											0	0	0	0.006999	0	38	288				
PRRT3	285368	broad.mit.edu	37	3	9988960	9988960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9988960C>T	uc003bul.2	-	4	2027	c.1897G>A	c.(1897-1899)GCC>ACC	p.A633T	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	633	Cytoplasmic (Potential).					integral to membrane					0						CCCGGGCTGGCATCCCAGCCC	0.766		NaN											0	0	0	0.001984	0	6	0				
FANCD2	2177	broad.mit.edu	37	3	10070355	10070355	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10070355G>C	uc003buw.2	+	2	92	c.14G>C	c.(13-15)AGA>ACA	p.R5T	CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_Missense_Mutation_p.R5T|FANCD2_uc003buy.1_Missense_Mutation_p.R5T|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_Missense_Mutation_p.R5T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	5	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAAAAGAAGACTGTCA	0.388		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.001984	0	7	105				
FANCD2	2177	broad.mit.edu	37	3	10127604	10127604	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10127604C>T	uc003buw.2	+	33	3411	c.3333C>T	c.(3331-3333)CTC>CTT	p.L1111L	FANCD2_uc003bux.1_Silent_p.L1111L|FANCD2_uc003buy.1_Silent_p.L1111L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1111					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGGAACTACTCAGGTGAGTCA	0.428		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	179	27				
IQSEC1	9922	broad.mit.edu	37	3	12950806	12950806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:12950806C>T	uc003bxt.2	-	11	2596	c.2587G>A	c.(2587-2589)GAA>AAA	p.E863K	IQSEC1_uc003bxu.3_Missense_Mutation_p.E741K|IQSEC1_uc011auw.1_Missense_Mutation_p.E849K	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	863	PH.|Potential.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TCTTGGACTTCCGCAATGGAC	0.537		NaN											0	0	0	0.01441	0	68	174				
FGD5	152273	broad.mit.edu	37	3	14949214	14949214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:14949214G>T	uc003bzc.2	+	10	3442	c.3332G>T	c.(3331-3333)GGA>GTA	p.G1111V	FGD5_uc011avk.1_Missense_Mutation_p.G1111V|FGD5_uc003bzd.2_Missense_Mutation_p.G189V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1111					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						CTCCAGCCAGGAAGGGTGAGT	0.642		NaN											1	0	1.12685e-05	0.004482	1.1518e-05	4	22				
STAC	6769	broad.mit.edu	37	3	36570456	36570456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:36570456G>C	uc003cgh.1	+	10	1128	c.1089G>C	c.(1087-1089)CAG>CAC	p.Q363H	STAC_uc011aya.1_Missense_Mutation_p.Q302H	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	363					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						AACAGGGGCAGATAACACTGA	0.343		NaN											0	0	0	0.003954	0	24	24				
EPM2AIP1	9852	broad.mit.edu	37	3	37033664	37033664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:37033664G>A	uc003cgk.2	-	1	1132	c.905C>T	c.(904-906)TCC>TTC	p.S302F	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	302						endoplasmic reticulum					0						TATCCATTCGGATATGGTATT	0.393		NaN											0	0	0	0.008871	0	20	82				
XYLB	9942	broad.mit.edu	37	3	38415956	38415956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:38415956C>T	uc003cic.2	+	11	960	c.851C>T	c.(850-852)TCG>TTG	p.S284L	XYLB_uc011ayp.1_Missense_Mutation_p.S147L|XYLB_uc003cid.1_Missense_Mutation_p.S206L	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	284					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCTCAGCGTCGCTGGCAGGC	0.587		NaN											0	0	0	0.003271	0	23	16				
CX3CR1	1524	broad.mit.edu	37	3	39307491	39307491	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:39307491C>G	uc003cjl.2	-	2	602	c.510G>C	c.(508-510)CAG>CAC	p.Q170H		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	170	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATTTTCTTTCTGCTTTGTGA	0.547		NaN											0	0	0	0.00874	0	41	91				
ENTPD3	956	broad.mit.edu	37	3	40456182	40456182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:40456182G>A	uc003ckd.3	+	6	540	c.448G>A	c.(448-450)GAA>AAA	p.E150K	ENTPD3_uc010hhy.2_Missense_Mutation_p.E150K|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	150	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTTGCAAAATGAAACAGCAGC	0.423		NaN											0	0	0	0.01441	0	55	53				
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	T	rs121913400		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:41266101C>T	uc010hia.1	+	4	254	c.98C>T	c.(97-99)TCT>TTT	p.S33F	CTNNB1_uc003ckp.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33F|CTNNB1_uc011azf.1_Missense_Mutation_p.S26F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	33			S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				0	0	0	0.001984	0	7	31		Valid		
ZNF197	10168	broad.mit.edu	37	3	44684773	44684773	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44684773G>T	uc003cnm.2	+	6	2357	c.2151G>T	c.(2149-2151)ATG>ATT	p.M717I	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	717	C2H2-type 13.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCTTTATTATGAGCAAAAGTT	0.423		NaN											1	0	5.73332e-34	0.01441	6.08376e-34	65	88				
ZNF35	7584	broad.mit.edu	37	3	44700379	44700379	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44700379G>T	uc003cnq.2	+	4	745	c.524G>T	c.(523-525)AGA>ATA	p.R175I	ZNF35_uc003cnr.2_Missense_Mutation_p.R15I	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	175	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAAGATTTCAGACAAGTGATA	0.383		NaN											1	0	3.12436e-70	0.01441	3.32673e-70	109	38				
CLEC3B	7123	broad.mit.edu	37	3	45077285	45077285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:45077285G>A	uc003cok.3	+	3	574	c.478G>A	c.(478-480)GAG>AAG	p.E160K	CLEC3B_uc003col.2_Missense_Mutation_p.E118K	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	160	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGGAGACTGAGATCACCGC	0.662		NaN											0	0	0	0.005443	0	23	10				
KLHL18	23276	broad.mit.edu	37	3	47378043	47378043	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47378043T>C	uc003crd.2	+	7	1043	c.917T>C	c.(916-918)GTG>GCG	p.V306A	KLHL18_uc003crc.2_Missense_Mutation_p.V306A|KLHL18_uc011bav.1_Missense_Mutation_p.V194A|KLHL18_uc010hjq.1_Missense_Mutation_p.V162A	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	306	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTGAATGTGGTGGAAGTGTTC	0.478		NaN											0	0	0	0.008361	0	30	14				
SMARCC1	6599	broad.mit.edu	37	3	47676775	47676775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47676775C>T	uc003crq.2	-	24	2669	c.2551G>A	c.(2551-2553)GAT>AAT	p.D851N	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.D742N	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	851	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCCAGTATCACTTTCTCTT	0.433		NaN											0	0	0	0.004289	0	39	20		Valid		
ZNF589	51385	broad.mit.edu	37	3	48309504	48309504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48309504C>T	uc003csl.3	+	4	389	c.323C>T	c.(322-324)CCA>CTA	p.P108L	ZNF589_uc010hjt.1_Missense_Mutation_p.P105L|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Missense_Mutation_p.P107L|ZNF589_uc003csm.2_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	108	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCCTATTCCAGGTTTCCAT	0.507		NaN											0	0	0	0.004007	0	17	60				
PLXNB1	5364	broad.mit.edu	37	3	48447188	48447188	+	Silent	SNP	G	G	A	rs143335184		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48447188G>A	uc003csw.2	-	37	6516	c.6246C>T	c.(6244-6246)CTC>CTT	p.L2082L	PLXNB1_uc003cst.2_Silent_p.L532L|PLXNB1_uc003csu.2_Silent_p.L1899L|PLXNB1_uc003csx.2_Silent_p.L2082L	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	2082	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGCGCCCCGAGGTCTCCGG	0.617		NaN											0	0	0	0.00308	0	7	17				
CCDC51	79714	broad.mit.edu	37	3	48474369	48474369	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48474369C>T	uc003csz.2	-	4	806	c.685G>A	c.(685-687)GAG>AAG	p.E229K	PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.E120K|CCDC51_uc003ctb.2_Missense_Mutation_p.E120K|CCDC51_uc003ctc.2_Missense_Mutation_p.E229K|CCDC51_uc003ctd.2_Missense_Mutation_p.E120K	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	229						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTTCAGCTCCTGTAGTCGC	0.597		NaN											0	0	0	0.00333	0	26	89				
ATRIP	84126	broad.mit.edu	37	3	48506933	48506933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48506933C>G	uc003ctf.1	+	13	2388	c.2356C>G	c.(2356-2358)CCC>GCC	p.P786A	ATRIP_uc011bbj.1_Missense_Mutation_p.P659A|ATRIP_uc003ctg.1_Missense_Mutation_p.P759A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	786					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGAAGACCCCGAGGTGGA	0.587		NaN						Other_conserved_DNA_damage_response_genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	13	27				
COL7A1	1294	broad.mit.edu	37	3	48602351	48602351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48602351G>A	uc003ctz.2	-	117	8684	c.8683C>T	c.(8683-8685)CGG>TGG	p.R2895W	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2895	Nonhelical region (NC2).|BPTI/Kunitz inhibitor.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACAGCCCGATGGTACCAG	0.622		NaN											0	0	0	0.004007	0	13	69				
COL7A1	1294	broad.mit.edu	37	3	48626328	48626328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48626328G>C	uc003ctz.2	-	18	2416	c.2415C>G	c.(2413-2415)TAC>TAG	p.Y805*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	805	Nonhelical region (NC1).|Fibronectin type-III 7.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCAGTCTGTAAGCTGTGG	0.617		NaN											0	0	0	0.008291	0	9	42				
CELSR3	1951	broad.mit.edu	37	3	48664437	48664437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48664437C>G	uc003cuf.1	-	53	12103	c.12103G>C	c.(12103-12105)GAC>CAC	p.D4035H	SLC26A6_uc003cug.2_Missense_Mutation_p.D628H|SLC26A6_uc003cuh.2_Missense_Mutation_p.D649H|SLC26A6_uc010hke.2_Missense_Mutation_p.D481H|SLC26A6_uc003cuk.2_Missense_Mutation_p.D541H|SLC26A6_uc003cui.2_Missense_Mutation_p.D648H|SLC26A6_uc003cuj.2_Missense_Mutation_p.D630H|SLC26A6_uc011bbp.1_Missense_Mutation_p.D613H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCTTGGAGTCTTCTTGACCA	0.592		NaN											0	0	0	0.005443	0	19	107				
CELSR3	1951	broad.mit.edu	37	3	48671065	48671065	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48671065C>T	uc003cuf.1	-	37	10209	c.10209G>A	c.(10207-10209)CCG>CCA	p.P3403P	SLC26A6_uc003cug.2_5'UTR|SLC26A6_uc003cuh.2_Silent_p.P9P|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.P9P|SLC26A6_uc003cui.2_Silent_p.P9P|SLC26A6_uc003cuj.2_Silent_p.P9P|SLC26A6_uc011bbp.1_Silent_p.P9P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGTGTCCCTCGGTCTGGGGT	0.577		NaN											0	0	0	0.01441	0	63	71				
WDR6	11180	broad.mit.edu	37	3	49044905	49044905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49044905C>T	uc003cvj.2	+	1	269	c.131C>T	c.(130-132)TCG>TTG	p.S44L	WDR6_uc011bbx.1_Missense_Mutation_p.S44L|WDR6_uc011bby.1_Missense_Mutation_p.S44L|WDR6_uc010hkn.2_5'UTR|WDR6_uc011bbz.1_5'Flank	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	14					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGGGCAACCTCGGAGCTTATA	0.627		NaN											0	0	0	0.001168	0	5	8				
WDR6	11180	broad.mit.edu	37	3	49050477	49050477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49050477G>A	uc003cvj.2	+	2	1738	c.1600G>A	c.(1600-1602)GAC>AAC	p.D534N	WDR6_uc011bbx.1_Silent_p.V362V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.D478N|WDR6_uc011bbz.1_Missense_Mutation_p.D453N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	504	WD 8.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCCCCAGGTGACTTCCTGGT	0.622		NaN											0	0	0	0.010729	0	10	36				
IMPDH2	3615	broad.mit.edu	37	3	49062461	49062461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49062461G>C	uc003cvt.2	-	11	1255	c.1163C>G	c.(1162-1164)TCT>TGT	p.S388C		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	388	IMP binding.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AGCCAGGAGAGAGCCCATCAT	0.577		NaN											0	0	0	0.013537	0	12	63				
QARS	5859	broad.mit.edu	37	3	49137494	49137494	+	Missense_Mutation	SNP	C	C	T	rs143072084	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49137494C>T	uc003cvx.2	-	14	1200	c.1195G>A	c.(1195-1197)GAG>AAG	p.E399K	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.E254K|QARS_uc003cvy.2_Missense_Mutation_p.E254K|QARS_uc011bce.1_Missense_Mutation_p.E388K	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	399					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTGTGGCCTCGCCCTCTGAA	0.557		NaN											0	0	0	0.012319	0	20	82				
C3orf62	375341	broad.mit.edu	37	3	49314209	49314209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49314209C>T	uc003cwn.2	-	1	300	c.97G>A	c.(97-99)GAA>AAA	p.E33K	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	33											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTAACTCCTTCAAAGGCCCGG	0.527		NaN											0	0	0	0.004878	0	35	27				
TCTA	6988	broad.mit.edu	37	3	49449866	49449866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49449866G>T	uc003cwv.3	+	1	228	c.7G>T	c.(7-9)GAG>TAG	p.E3*	RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	3	Extracellular (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCATGGCGGAGTCCTGGTC	0.706		NaN											1	0	1.62849e-17	0.004007	1.71795e-17	14	16				
AMT	275	broad.mit.edu	37	3	49455127	49455127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49455127G>A	uc003cww.2	-	9	1187	c.1058C>T	c.(1057-1059)TCC>TTC	p.S353F	AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.S353F|AMT_uc011bco.1_Missense_Mutation_p.S309F|AMT_uc003cwy.2_Missense_Mutation_p.S305F|AMT_uc011bcp.1_Missense_Mutation_p.S256F|AMT_uc011bcq.1_Missense_Mutation_p.S297F	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	353					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGAGAGGGGGAGGGGCAGCC	0.587		NaN											0	0	0	0.007291	0	20	25				
APEH	327	broad.mit.edu	37	3	49718651	49718651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49718651G>C	uc003cxf.2	+	15	1817	c.1417G>C	c.(1417-1419)GAG>CAG	p.E473Q	APEH_uc010hkw.1_Missense_Mutation_p.E473Q	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	473					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACCCCCAGAGCAAGAGAA	0.617		NaN											0	0	0	0.00632	0	26	27				
MST1	4485	broad.mit.edu	37	3	49724697	49724697	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49724697A>T	uc003cxg.2	-	5	564	c.492T>A	c.(490-492)AAT>AAA	p.N164K	MST1_uc011bcs.1_Missense_Mutation_p.N164K|MST1_uc010hkx.2_Missense_Mutation_p.N85K|MST1_uc011bct.1_Missense_Mutation_p.N164K|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	150	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTCCAGGCCATTCCGGAGAG	0.612		NaN											0	0	0	0.003163	0	15	22				
TMEM115	11070	broad.mit.edu	37	3	50396052	50396052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:50396052G>A	uc003dan.1	-	1	888	c.443C>T	c.(442-444)GCA>GTA	p.A148V		NM_007024	NP_008955	Q12893	TM115_HUMAN	PL6 protein	148	Helical; (Potential).				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCTTGAGTGCCACCAGGAC	0.507		NaN											0	0	0	0.001855	0	14	14				
MANF	7873	broad.mit.edu	37	3	51426367	51426367	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51426367G>A	uc003dbc.2	+	4	467	c.405G>A	c.(403-405)CTG>CTA	p.L135L	RBM15B_uc003dbd.2_5'Flank	NM_006010	NP_006001	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic	132					response to unfolded protein	extracellular region	growth factor activity				0						CAGTGGACCTGAAGAAGCTCC	0.527		NaN									OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	4				
RAD54L2	23132	broad.mit.edu	37	3	51672281	51672281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51672281G>A	uc011bdt.1	+	11	1929	c.1804G>A	c.(1804-1806)GGT>AGT	p.G602S	RAD54L2_uc003dbh.2_Missense_Mutation_p.G193S|RAD54L2_uc011bdu.1_Missense_Mutation_p.G296S|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	602						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCGGGACTGTGGTAGCAGCGG	0.522		NaN									OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	22	27				
ERC2	26059	broad.mit.edu	37	3	56114883	56114883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56114883C>G	uc003dhr.1	-	7	1859	c.1603G>C	c.(1603-1605)GAA>CAA	p.E535Q	ERC2_uc003dht.1_Missense_Mutation_p.E6Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	535	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTTCACTTCTAACATATCT	0.368		NaN											0	0	0	0.012319	0	22	23				
CCDC66	285331	broad.mit.edu	37	3	56627024	56627024	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56627024C>T	uc003dhz.2	+	8	1050	c.963C>T	c.(961-963)TTC>TTT	p.F321F	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.F287F|CCDC66_uc003dhx.2_RNA	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	321										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCACCCTTTCAGTGCTGTGA	0.343		NaN											0	0	0	0.01441	0	49	147				
FLNB	2317	broad.mit.edu	37	3	58106996	58106996	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58106996C>T	uc003djj.2	+	20	3057	c.2892C>T	c.(2890-2892)TTC>TTT	p.F964F	FLNB_uc010hne.2_Silent_p.F964F|FLNB_uc003djk.2_Silent_p.F964F|FLNB_uc010hnf.2_Silent_p.F964F|FLNB_uc003djl.2_Silent_p.F795F|FLNB_uc003djm.2_Silent_p.F795F	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	964	Filamin 8.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCAGGAGTTCACCGTTGATA	0.562		NaN											0	0	0	0.010771	0	44	139				
FLNB	2317	broad.mit.edu	37	3	58109098	58109098	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58109098A>T	uc003djj.2	+	21	3570	c.3405A>T	c.(3403-3405)AAA>AAT	p.K1135N	FLNB_uc010hne.2_Missense_Mutation_p.K1135N|FLNB_uc003djk.2_Missense_Mutation_p.K1135N|FLNB_uc010hnf.2_Missense_Mutation_p.K1135N|FLNB_uc003djl.2_Missense_Mutation_p.K966N|FLNB_uc003djm.2_Missense_Mutation_p.K966N	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1135	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCCCTCTAAAGTCGTGGCAT	0.592		NaN											0	0	0	0.01441	0	73	58				
PXK	54899	broad.mit.edu	37	3	58377553	58377553	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58377553C>T	uc003djz.1	+	7	693	c.594C>T	c.(592-594)ATC>ATT	p.I198I	PXK_uc003djx.1_Silent_p.I198I|PXK_uc003djy.1_Silent_p.I181I|PXK_uc003dka.1_Silent_p.I198I|PXK_uc003dkb.1_Silent_p.I115I|PXK_uc003dkc.1_Silent_p.I181I|PXK_uc011bfe.1_Silent_p.I165I|PXK_uc010hnj.1_Silent_p.I165I|PXK_uc003dkd.1_Silent_p.I61I|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	198	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGTGTCTAATCAAACTTCTGC	0.388		NaN											0	0	0	0.01441	0	75	82				
SYNPR	132204	broad.mit.edu	37	3	63600994	63600994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:63600994C>T	uc003dlq.2	+	5	1004	c.635C>T	c.(634-636)TCA>TTA	p.S212L	SYNPR_uc003dlp.2_Missense_Mutation_p.S232L|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.S221L|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	212	Cytoplasmic (Potential).|5 X approximate repeats.|1.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGATATCTTTCAGATCCAATG	0.468		NaN											0	0	0	0.001168	0	6	26				
PRICKLE2	166336	broad.mit.edu	37	3	64142939	64142939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:64142939C>T	uc003dmf.2	-	5	1085	c.499G>A	c.(499-501)GAG>AAG	p.E167K		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	167	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACCAGGAGCTCATTGCAGACA	0.577		NaN											0	0	0	0.012213	0	24	23				
KBTBD8	84541	broad.mit.edu	37	3	67054357	67054357	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:67054357T>C	uc003dmy.2	+	3	1019	c.966T>C	c.(964-966)AAT>AAC	p.N322N	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	322										ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AACCACCAAATGACCTGAGAG	0.443		NaN											0	0	0	0.01441	0	71	77				
TMF1	7110	broad.mit.edu	37	3	69074854	69074854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69074854G>A	uc003dnn.2	-	15	3116	c.2869C>T	c.(2869-2871)CAT>TAT	p.H957Y	TMF1_uc011bfx.1_Missense_Mutation_p.H960Y	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	957					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GAGTGATCATGAGACTCATCC	0.368		NaN											0	0	0	0.010818	0	30	72				
UBA3	9039	broad.mit.edu	37	3	69112141	69112141	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69112141G>T	uc003dno.2	-	9	705	c.685C>A	c.(685-687)CCA>ACA	p.P229T	UBA3_uc003dnq.2_Missense_Mutation_p.P215T|UBA3_uc011bfy.1_Missense_Mutation_p.P52T|UBA3_uc011bfz.1_Missense_Mutation_p.P52T	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	229	Interaction with NEDD8.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACCTGTGGTGGATAAAGTTCC	0.388		NaN											1	0	8.27458e-37	0.01441	8.78895e-37	71	63				
FOXP1	27086	broad.mit.edu	37	3	71037150	71037150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:71037150G>A	uc003dol.2	-	10	1464	c.1141C>T	c.(1141-1143)CAG>TAG	p.Q381*	FOXP1_uc003dom.2_Nonsense_Mutation_p.Q305*|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003dop.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q380*|FOXP1_uc003doi.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003doj.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003dok.2_Nonsense_Mutation_p.Q194*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q159*	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	381					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTACGGGCTGAGGGGCGGCT	0.493		NaN	T	PAX5	ALL								0	0	0	0.01441	0	69	194				
PROS1	5627	broad.mit.edu	37	3	93611869	93611869	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93611869G>A	uc003drb.3	-	10	1404	c.1063C>T	c.(1063-1065)CGT>TGT	p.R355C	PROS1_uc010hoo.2_Missense_Mutation_p.R224C|PROS1_uc003dqz.3_Missense_Mutation_p.R224C	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	355	Laminin G-like 1.		R -> H (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCACCACGAAGTGCAATC	0.393		NaN											0	0	0	0.00308	0	8	120				
STX19	415117	broad.mit.edu	37	3	93733304	93733304	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93733304T>C	uc003drh.1	-	2	1067	c.810A>G	c.(808-810)CTA>CTG	p.L270L	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	270	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						ATTTTACAGCTAGTCCAAATT	0.328		NaN											0	0	0	0.005524	0	39	30				
MINA	84864	broad.mit.edu	37	3	97668720	97668720	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:97668720G>A	uc003drz.1	-	7	1534	c.1028C>T	c.(1027-1029)TCT>TTT	p.S343F	MINA_uc003dry.1_Missense_Mutation_p.S14F|MINA_uc003dsa.1_Missense_Mutation_p.S342F|MINA_uc003dsb.1_Missense_Mutation_p.S343F|MINA_uc003dsc.1_Missense_Mutation_p.S342F|MINA_uc010hpa.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	343					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						ATCTCCCGCAGAGTAAGGGGG	0.522		NaN											0	0	0	0.001855	0	11	60				
ABI3BP	25890	broad.mit.edu	37	3	100471769	100471769	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:100471769C>G	uc003dun.2	-	33	2936	c.2851G>C	c.(2851-2853)GAA>CAA	p.E951Q	ABI3BP_uc003duj.2_Missense_Mutation_p.E531Q|ABI3BP_uc003duk.2_Missense_Mutation_p.E660Q|ABI3BP_uc003dul.2_Missense_Mutation_p.E781Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.E905Q|ABI3BP_uc003dum.2_Missense_Mutation_p.E362Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	951						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						AAGGGTCTTTCAGTCCAGATG	0.373		NaN											0	0	0	0.004878	0	36	40				
MYH15	22989	broad.mit.edu	37	3	108102561	108102561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108102561G>A	uc003dxa.1	-	41	5764	c.5707C>T	c.(5707-5709)CAA>TAA	p.Q1903*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1903	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						GAAAGGTATTGATTGGCTTGT	0.333		NaN											0	0	0	0.005443	0	28	102				
MYH15	22989	broad.mit.edu	37	3	108139937	108139937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108139937C>G	uc003dxa.1	-	29	3944	c.3887G>C	c.(3886-3888)AGT>ACT	p.S1296T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1296	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TTACTTACCACTCTCACTCCA	0.463		NaN											0	0	0	0.013726	0	34	133				
KIAA2018	205717	broad.mit.edu	37	3	113377710	113377710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113377710G>A	uc003eam.2	-	7	3230	c.2819C>T	c.(2818-2820)TCA>TTA	p.S940L	KIAA2018_uc003eal.2_Missense_Mutation_p.S884L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	940					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TACATTGGCTGAAGCGCAGGG	0.418		NaN											0	0	0	0.01441	0	127	123				
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113850098C>T	uc003ebd.2	-	7	1296	c.873G>A	c.(871-873)GCG>GCA	p.A291A	DRD3_uc010hqn.1_Silent_p.A291A|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Silent_p.A291A	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	291	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542		NaN											0	0	0	0.008361	0	27	222				
RABL3	285282	broad.mit.edu	37	3	120424963	120424963	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:120424963T>C	uc003edx.2	-	4	299	c.269_splice	c.e4-1	p.G90_splice		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3						small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)		AAATAATACCTAAAATAATCA	0.373		NaN											0	0	0	0.008291	0	11	38				
EAF2	55840	broad.mit.edu	37	3	121554153	121554153	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:121554153C>T	uc003een.2	+	1	120	c.21C>T	c.(19-21)TTC>TTT	p.F7F	IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	7					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		CAGCGGGATTCTCACACCTAG	0.557		NaN											0	0	0	0.004007	0	12	16				
SEMA5B	54437	broad.mit.edu	37	3	122658317	122658317	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:122658317C>T	uc003efz.1	-	5	733	c.429G>A	c.(427-429)AGG>AGA	p.R143R	SEMA5B_uc011bju.1_Silent_p.R85R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R143R|SEMA5B_uc010hro.1_Silent_p.R85R|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	143	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGAGGTAGTTCCTGTGAAAAT	0.537		NaN											0	0	0	0.001984	0	7	36				
ROPN1	54763	broad.mit.edu	37	3	123699230	123699230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:123699230G>A	uc003eha.2	-	3	440	c.99C>T	c.(97-99)CTC>CTT	p.L33L	ROPN1_uc003ehb.1_RNA|ROPN1_uc003ehc.1_RNA	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	ropporin	33	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.148)		CCCACTGGATGAGGTCCTGCG	0.597		NaN											0	0	0	0.003954	0	11	25				
KLF15	28999	broad.mit.edu	37	3	126071555	126071555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126071555C>T	uc011bkk.1	-	2	393	c.211G>A	c.(211-213)GAG>AAG	p.E71K		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	71						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		TCCTGGCTCTCGGTGCCCAGG	0.652		NaN											0	0	0	0.004672	0	3	2				
CHCHD6	84303	broad.mit.edu	37	3	126676358	126676358	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126676358C>T	uc003ejf.1	+	7	704	c.666C>T	c.(664-666)GTC>GTT	p.V222V	CHCHD6_uc010hsj.1_Silent_p.V223V	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain	222	CHCH.										0						CGGACCTGGTCAAGGCATACC	0.647		NaN											0	0	0	0.001168	0	6	4				
PLXND1	23129	broad.mit.edu	37	3	129293326	129293326	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:129293326G>A	uc003emx.2	-	12	2638	c.2538C>T	c.(2536-2538)GTC>GTT	p.V846V		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	846	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACAGTTATAGACCATGACTG	0.652		NaN											0	0	0	0.004482	0	9	21				
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132071660G>A	uc010htp.2	+	9	1051	c.961G>A	c.(961-963)GAG>AAG	p.E321K	ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						ATTGTACTTTGAGAAGGGGTA	0.433		NaN											0	0	0	0.00499	0	17	94				
DNAJC13	23317	broad.mit.edu	37	3	132169512	132169512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132169512C>T	uc003eor.2	+	6	423	c.358C>T	c.(358-360)CAC>TAC	p.H120Y	DNAJC13_uc010htq.1_Missense_Mutation_p.H120Y	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	120							heat shock protein binding			ovary(1)|breast(1)	2						CTATAAGCATCACTGGAGTGA	0.323		NaN											0	0	0	0.01441	0	60	41				
CEP70	80321	broad.mit.edu	37	3	138256169	138256169	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138256169C>T	uc003esl.2	-	7	684	c.486G>A	c.(484-486)AAG>AAA	p.K162K	CEP70_uc011bmk.1_Silent_p.K142K|CEP70_uc011bml.1_Silent_p.K144K|CEP70_uc011bmm.1_Silent_p.K10K|CEP70_uc003esm.2_Silent_p.K162K|CEP70_uc003esn.2_Silent_p.K162K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	162	Potential.				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						TTCGTTTTTTCTTATAATGCT	0.343		NaN											0	0	0	0.010729	0	11	41				
FOXL2	668	broad.mit.edu	37	3	138665349	138665349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138665349C>T	uc003esw.2	-	1	634	c.216G>A	c.(214-216)GAG>GAA	p.E72E	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	72	Fork-head.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			ovary(266)|large_intestine(1)|skin(1)	268						TGAGCCTCTTCTCCGCGCTCT	0.632		NaN	Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						0	0	0	0.012319	0	21	27				
RBP1	5947	broad.mit.edu	37	3	139258348	139258348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:139258348C>T	uc003eti.2	-	1	324	c.213G>A	c.(211-213)TGG>TGA	p.W71*	RBP1_uc011bmx.1_Nonsense_Mutation_p.W71*|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Nonsense_Mutation_p.W71*	NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	9						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	CCAACATCTTCCAGTACCCAG	0.682		NaN											0	0	0	0.001984	0	6	10				
ACPL2	92370	broad.mit.edu	37	3	141006166	141006166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141006166C>T	uc003etu.2	+	7	675	c.376C>T	c.(376-378)CAC>TAC	p.H126Y	ACPL2_uc003etv.2_Missense_Mutation_p.H126Y|ACPL2_uc011bna.1_Missense_Mutation_p.H88Y|ACPL2_uc011bnb.1_Missense_Mutation_p.H109Y	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	126						extracellular region	acid phosphatase activity			skin(1)	1						GAAACCGTATCACCCAAAACT	0.463		NaN											0	0	0	0.004289	0	36	119				
GRK7	131890	broad.mit.edu	37	3	141526645	141526645	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141526645G>A	uc011bnd.1	+	3	1293	c.1209G>A	c.(1207-1209)CTG>CTA	p.L403L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	403	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAGAGGATCTGAAGCAAAGAA	0.433		NaN											0	0	0	0.008291	0	10	80				
ATP1B3	483	broad.mit.edu	37	3	141626055	141626055	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141626055C>T	uc003eug.1	+	3	459	c.285C>T	c.(283-285)TTC>TTT	p.F95F	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.F81F	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	95	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						AATATACATTCAGTAGGTCTG	0.363		NaN											0	0	0	0.00632	0	28	84				
TRPC1	7220	broad.mit.edu	37	3	142509894	142509894	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:142509894A>G	uc003evc.2	+	8	1467	c.1331A>G	c.(1330-1332)TAT>TGT	p.Y444C	TRPC1_uc003evb.2_Missense_Mutation_p.Y410C|TRPC1_uc011bni.1_Missense_Mutation_p.Y11C	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	444	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AGACTCTGGTATGAAGGGTTG	0.328		NaN											0	0	0	0.008871	0	18	68				
PLSCR5	389158	broad.mit.edu	37	3	146311816	146311816	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:146311816G>C	uc003ewb.2	-	4	1348	c.344C>G	c.(343-345)ACT>AGT	p.T115S	PLSCR5_uc010hvb.2_Missense_Mutation_p.T103S|PLSCR5_uc010hvc.2_Missense_Mutation_p.T115S	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	115											0						AGATCGCAGAGTGGAACAGAA	0.458		NaN											0	0	0	0.00623	0	40	135				
RNF13	11342	broad.mit.edu	37	3	149678727	149678727	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:149678727G>A	uc003exn.3	+	11	1766	c.982G>A	c.(982-984)GAA>AAA	p.E328K	RNF13_uc003exp.3_Missense_Mutation_p.E328K|RNF13_uc010hvh.2_Missense_Mutation_p.E209K	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	328	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTTTATCGGAATCCCGCTC	0.413		NaN											0	0	0	0.012319	0	23	59				
RAP2B	5912	broad.mit.edu	37	3	152880887	152880887	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:152880887T>C	uc003ezr.2	+	1	859	c.405T>C	c.(403-405)GCT>GCC	p.A135A		NM_002886	NP_002877	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family precursor	135					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			lung(2)	2			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGCCCTGGCTGAGGAGTGGA	0.632		NaN											0	0	0	0.003163	0	13	20				
MME	4311	broad.mit.edu	37	3	154886393	154886393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:154886393G>A	uc010hvr.1	+	19	2104	c.1893G>A	c.(1891-1893)TGG>TGA	p.W631*	MME_uc003fab.1_Nonsense_Mutation_p.W631*|MME_uc003fac.1_Nonsense_Mutation_p.W631*|MME_uc003fad.1_Nonsense_Mutation_p.W631*|MME_uc003fae.1_Nonsense_Mutation_p.W631*	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	631	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACTTTTCCTGGGACCTGGCAG	0.408		NaN											0	0	0	0.00632	0	28	107				
SLC33A1	9197	broad.mit.edu	37	3	155571662	155571662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:155571662G>A	uc003fan.3	-	1	506	c.125C>T	c.(124-126)TCA>TTA	p.S42L	SLC33A1_uc003fao.1_Missense_Mutation_p.S42L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	42	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCGGCCCGCTGAGTCCAAATG	0.602		NaN											0	0	0	0.013537	0	11	47				
ARL14	80117	broad.mit.edu	37	3	160395402	160395402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:160395402G>A	uc003fdq.2	+	1	455	c.268G>A	c.(268-270)GAC>AAC	p.D90N		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	90					small GTPase mediated signal transduction	intracellular	GTP binding				0			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GTATGTTGTGGACAGTACAGA	0.433		NaN											0	0	0	0.001855	0	12	82				
BCHE	590	broad.mit.edu	37	3	165548500	165548500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:165548500C>G	uc003fem.3	-	2	482	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	108					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCCACATCTCTGATCCATGG	0.393		NaN											0	0	0	0.01441	0	64	41				
ZBBX	79740	broad.mit.edu	37	3	167045793	167045793	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:167045793T>A	uc003fep.2	-	11	1122	c.799A>T	c.(799-801)AGT>TGT	p.S267C	ZBBX_uc011bpc.1_Missense_Mutation_p.S267C|ZBBX_uc003feq.2_Missense_Mutation_p.S238C	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	267						intracellular	zinc ion binding			ovary(2)	2						CTCCATTGACTTAACACTTCC	0.348		NaN											0	0	0	0.01441	0	49	178				
SLC2A2	6514	broad.mit.edu	37	3	170725017	170725017	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170725017C>T	uc003fhe.1	-	5	841	c.532G>A	c.(532-534)GAA>AAA	p.E178K	SLC2A2_uc003fhf.1_Missense_Mutation_p.E5K|SLC2A2_uc011bpu.1_Missense_Mutation_p.E51K	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	178	Helical; Name=4; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGAGCAATTTCACCGATATAC	0.428		NaN											0	0	0	0.008361	0	30	28				
TNIK	23043	broad.mit.edu	37	3	170786662	170786662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170786662G>A	uc003fhh.2	-	30	4019	c.3674C>T	c.(3673-3675)TCT>TTT	p.S1225F	TNIK_uc003fhi.2_Missense_Mutation_p.S1170F|TNIK_uc003fhj.2_Missense_Mutation_p.S1196F|TNIK_uc003fhk.2_Missense_Mutation_p.S1217F|TNIK_uc003fhl.2_Missense_Mutation_p.S1141F|TNIK_uc003fhm.2_Missense_Mutation_p.S1162F|TNIK_uc003fhn.2_Missense_Mutation_p.S1188F|TNIK_uc003fho.2_Missense_Mutation_p.S1133F|TNIK_uc003fhg.2_Missense_Mutation_p.S403F|TNIK_uc003fhp.2_Missense_Mutation_p.S157F	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1225	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GATATCATAAGAGTTTCCTGA	0.378		NaN											0	0	0	0.006214	0	10	49				
PLD1	5337	broad.mit.edu	37	3	171338225	171338225	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:171338225G>C	uc003fhs.2	-	24	2795	c.2679C>G	c.(2677-2679)ATC>ATG	p.I893M	PLD1_uc003fht.2_Missense_Mutation_p.I855M|PLD1_uc003fhu.3_Missense_Mutation_p.I187M	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	893	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTGGACATAGATAAGCTCAG	0.353		NaN											0	0	0	0.006122	0	16	116				
FNDC3B	64778	broad.mit.edu	37	3	172061911	172061911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:172061911G>A	uc003fhy.2	+	19	2285	c.2113G>A	c.(2113-2115)GAG>AAG	p.E705K	FNDC3B_uc003fhz.3_Missense_Mutation_p.E705K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	705	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGAGGTCTCAGAGTACAGCGT	0.527		NaN											0	0	0	0.00245	0	12	111				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.007291	0	29	37		Valid		
MFN1	55669	broad.mit.edu	37	3	179066706	179066706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:179066706G>A	uc003fjs.2	+	2	193	c.67G>A	c.(67-69)GAC>AAC	p.D23N	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D51N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	23	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGCAATCTTTGACCAGTTACT	0.358		NaN											0	0	0	0.006999	0	38	163				
LAMP3	27074	broad.mit.edu	37	3	182872117	182872117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:182872117G>A	uc003flh.3	-	2	336	c.112C>T	c.(112-114)CAA>TAA	p.Q38*		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	38	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCAGTAGGTTGAGAATAATCT	0.398		NaN											0	0	0	0.01441	0	57	70				
ECE2	9718	broad.mit.edu	37	3	183967552	183967552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:183967552G>A	uc003fni.3	+	1	108	c.70G>A	c.(70-72)GAG>AAG	p.E24K	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.E24K	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	24	Cytoplasmic (Potential).|Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGAAGTCGAGTACTGGGA	0.672		NaN									OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	10	19				
TRA2B	6434	broad.mit.edu	37	3	185643391	185643391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:185643391C>T	uc003fpv.2	-	3	470	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R65Q	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	65	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						ATAATGCCTTCGGGAGCTTCT	0.463		NaN											0	0	0	0.003163	0	16	47				
FETUB	26998	broad.mit.edu	37	3	186358310	186358310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186358310C>T	uc010hyq.2	+	2	322	c.61C>T	c.(61-63)CCA>TCA	p.P21S	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.P21S|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.P21S|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.P21S	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	21						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGCAATGTCTCCACCCCAGCT	0.592		NaN											0	0	0	0.01441	0	101	101				
MASP1	5648	broad.mit.edu	37	3	186969425	186969425	+	Silent	SNP	C	C	T	rs116595107	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186969425C>T	uc003frh.1	-	7	1340	c.1008G>A	c.(1006-1008)CTG>CTA	p.L336L	MASP1_uc003fri.2_Silent_p.L336L|MASP1_uc003frj.2_Silent_p.L305L|MASP1_uc003frk.1_Silent_p.L336L|MASP1_uc011bse.1_Silent_p.L310L	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	336	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGCACCTTCAGCACTTTGT	0.552		NaN											0	0	0	0.01441	0	60	50				
TP63	8626	broad.mit.edu	37	3	189349350	189349350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:189349350G>A	uc003fry.2	+	1	135	c.46G>A	c.(46-48)GAC>AAC	p.D16N	TP63_uc003frx.2_Missense_Mutation_p.D16N|TP63_uc003frz.2_Missense_Mutation_p.D16N|TP63_uc010hzc.1_Missense_Mutation_p.D16N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	16	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTACTGCCCTGACCCTTACAT	0.378		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			0	0	0	0.007835	0	40	125				
HES1	3280	broad.mit.edu	37	3	193854434	193854434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193854434G>A	uc003ftq.1	+	2	373	c.137G>A	c.(136-138)CGA>CAA	p.R46Q	HES1_uc011bst.1_Missense_Mutation_p.R46Q	NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	46	Basic motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GAGAAAAGACGAAGAGCAAGA	0.408		NaN											0	0	0	0.008291	0	10	14				
HES1	3280	broad.mit.edu	37	3	193855629	193855629	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193855629C>T	uc003ftq.1	+	4	686	c.450C>T	c.(448-450)ATC>ATT	p.I150I		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	150					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCCAGATCAATGCCATGA	0.716		NaN											0	0	0	0.001168	0	5	18				
RNF168	165918	broad.mit.edu	37	3	196214289	196214289	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:196214289C>G	uc003fwq.2	-	3	1077	c.539G>C	c.(538-540)AGA>ACA	p.R180T	RNF168_uc010iah.2_Missense_Mutation_p.R13T	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	180	MIU motif 1.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTTAGCTTTCTTGCCAGTTC	0.473		NaN											0	0	0	0.01441	0	90	290				
BDH1	622	broad.mit.edu	37	3	197238892	197238892	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:197238892G>A	uc003fxr.2	-	8	1308	c.906C>T	c.(904-906)GTC>GTT	p.V302V	BDH1_uc003fxs.2_Silent_p.V302V|BDH1_uc003fxt.2_Silent_p.V215V|BDH1_uc003fxu.2_Silent_p.V302V	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	302					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGCGTGTGTGACAGCATCGA	0.572		NaN											0	0	0	0.003954	0	24	72				
MFSD7	84179	broad.mit.edu	37	4	676629	676629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:676629C>T	uc003gay.2	-	9	1262	c.1205G>A	c.(1204-1206)CGA>CAA	p.R402Q	MFSD7_uc003gaw.2_Missense_Mutation_p.R144Q|MFSD7_uc003gax.2_Missense_Mutation_p.R401Q|MFSD7_uc003gaz.2_Missense_Mutation_p.R283Q|MFSD7_uc003gba.2_Missense_Mutation_p.R305Q|MFSD7_uc003gbb.1_Missense_Mutation_p.R337Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	402					transmembrane transport	integral to membrane					0						CTCCGAGCGTCGCACAGTCAG	0.652		NaN											0	0	0	0.009096	0	4	6				
MFSD7	84179	broad.mit.edu	37	4	678583	678583	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:678583C>A	uc003gay.2	-	5	705	c.648G>T	c.(646-648)GAG>GAT	p.E216D	MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Missense_Mutation_p.E216D|MFSD7_uc003gaz.2_Missense_Mutation_p.E97D|MFSD7_uc003gba.2_Missense_Mutation_p.E119D|MFSD7_uc003gbb.1_Missense_Mutation_p.E152D	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	216					transmembrane transport	integral to membrane					0						GGGGCACACTCTCCCACAGGC	0.657		NaN											1	0	4.96729e-08	0.008871	5.12554e-08	17	9				
GAK	2580	broad.mit.edu	37	4	887189	887189	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:887189C>T	uc003gbm.3	-	9	1165	c.966G>A	c.(964-966)GTG>GTA	p.V322V	GAK_uc003gbn.3_Silent_p.V243V|GAK_uc010ibk.1_Silent_p.V216V|GAK_uc003gbl.3_Silent_p.V186V	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	322					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		ACTTGGGGTTCACGTTGCGGG	0.662		NaN											0	0	0	0.010729	0	9	17				
CRIPAK	285464	broad.mit.edu	37	4	1388306	1388306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1388306G>A	uc003gdf.2	+	1	2967	c.7G>A	c.(7-9)GAG>AAG	p.E3K		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	3					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			tcttatGCATGAGCCCTCGCT	0.338		NaN											0	0	0	0.01441	0	81	59				
TACC3	10460	broad.mit.edu	37	4	1746259	1746259	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1746259G>A	uc003gdo.2	+	14	2346	c.2238G>A	c.(2236-2238)CTG>CTA	p.L746L	TACC3_uc003gdp.2_Silent_p.L386L|TACC3_uc010ica.2_Silent_p.L167L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	746	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGAGTCACTGAAGAAGTGCG	0.607		NaN											0	0	0	0.006214	0	9	55				
TNIP2	79155	broad.mit.edu	37	4	2746669	2746669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:2746669C>T	uc003gfg.2	-	4	748	c.661G>A	c.(661-663)GAA>AAA	p.E221K	TNIP2_uc003gff.2_Missense_Mutation_p.E114K|TNIP2_uc003gfh.2_Intron	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	221	Potential.					cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAGGTCTTCAACCTGAAGA	0.582		NaN											0	0	0	0.004482	0	8	35				
RGS12	6002	broad.mit.edu	37	4	3344756	3344756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3344756C>T	uc003ggw.2	+	3	2878	c.1974C>T	c.(1972-1974)ATC>ATT	p.I658I	RGS12_uc003ggu.2_Silent_p.I658I|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.I658I|RGS12_uc003ggy.1_Silent_p.I56I|RGS12_uc003ggx.1_Silent_p.I658I	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	658						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTCAGTATCACTCGCTCCC	0.433		NaN											0	0	0	0.004007	0	16	65				
RGS12	6002	broad.mit.edu	37	4	3424704	3424704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3424704C>T	uc003ggw.2	+	12	4010	c.3106C>T	c.(3106-3108)CGG>TGG	p.R1036W	RGS12_uc003ggv.2_Missense_Mutation_p.R1036W|RGS12_uc003ggy.1_Missense_Mutation_p.R434W|RGS12_uc003ggz.2_Missense_Mutation_p.R388W|RGS12_uc010icu.1_Missense_Mutation_p.R235W|RGS12_uc011bvs.1_Missense_Mutation_p.R378W|RGS12_uc003gha.2_Missense_Mutation_p.R378W|RGS12_uc010icv.2_Missense_Mutation_p.R235W|RGS12_uc003ghb.2_Missense_Mutation_p.R235W	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1036	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCTTGTTTCGGTAAGAGGA	0.582		NaN											0	0	0	0.00308	0	7	35				
ZBTB49	166793	broad.mit.edu	37	4	4303908	4303908	+	Silent	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:4303908A>T	uc003ghu.2	+	3	520	c.345A>T	c.(343-345)ACA>ACT	p.T115T	ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGTGTCACACATTTTTAAAAT	0.418		NaN											0	0	0	0.013114	0	47	143				
EVC2	132884	broad.mit.edu	37	4	5567045	5567045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5567045C>G	uc003gij.2	-	21	3653	c.3599G>C	c.(3598-3600)CGA>CCA	p.R1200P	EVC2_uc011bwb.1_Missense_Mutation_p.R640P|EVC2_uc003gik.2_Missense_Mutation_p.R1120P	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1200						integral to membrane				large_intestine(3)|ovary(2)	5						CAGATCTCCTCGCAGTTTGCC	0.493		NaN											0	0	0	0.004482	0	7	107				
EVC2	132884	broad.mit.edu	37	4	5578040	5578040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5578040C>T	uc003gij.2	-	18	3253	c.3199G>A	c.(3199-3201)GAA>AAA	p.E1067K	EVC2_uc011bwb.1_Missense_Mutation_p.E507K|EVC2_uc003gik.2_Missense_Mutation_p.E987K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1067	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						ACCTGCCTTTCAGAATCCACC	0.617		NaN											0	0	0	0.010818	0	30	100				
CRMP1	1400	broad.mit.edu	37	4	5838496	5838496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5838496G>A	uc003gip.2	-	11	1207	c.1106C>T	c.(1105-1107)GCG>GTG	p.A369V	CRMP1_uc003gin.1_Missense_Mutation_p.A281V|CRMP1_uc003giq.2_Missense_Mutation_p.A369V|CRMP1_uc003gir.2_Missense_Mutation_p.A364V|CRMP1_uc003gis.2_Missense_Mutation_p.A483V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	369				Missing (in Ref. 6; AAK55500).	axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCTTACCACCGCCTTGTCCCA	0.547		NaN											0	0	0	0.012213	0	29	65				
CCDC96	257236	broad.mit.edu	37	4	7044015	7044015	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044015C>T	uc003gjv.2	-	1	714	c.651G>A	c.(649-651)CAG>CAA	p.Q217Q	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	217											0						CCTGCAGCTTCTGGACCTCCT	0.582		NaN											0	0	0	0.004289	0	36	22				
CCDC96	257236	broad.mit.edu	37	4	7044026	7044026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044026C>T	uc003gjv.2	-	1	703	c.640G>A	c.(640-642)GAG>AAG	p.E214K	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	214	Glu-rich.										0						TGGACCTCCTCGGACCACTCG	0.552		NaN											0	0	0	0.009535	0	30	21				
SH3TC1	54436	broad.mit.edu	37	4	8237168	8237168	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:8237168G>A	uc003gkv.3	+	15	3392	c.3291G>A	c.(3289-3291)CAG>CAA	p.Q1097Q	SH3TC1_uc003gkw.3_Silent_p.Q1021Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1097							binding			large_intestine(2)|pancreas(1)	3						AGGTGGCACAGAACGTGGCCC	0.647		NaN											0	0	0	0.013726	0	34	32				
GPR125	166647	broad.mit.edu	37	4	22456499	22456499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:22456499G>A	uc003gqm.1	-	4	728	c.463C>T	c.(463-465)CTG>TTG	p.L155L	GPR125_uc010ieo.1_Silent_p.L29L|GPR125_uc003gqo.2_Silent_p.L155L	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	155	Extracellular (Potential).|LRR 4.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				AGCCGAACCAGATTGGTGAGT	0.358		NaN											0	0	0	0.004482	0	9	60				
LGI2	55203	broad.mit.edu	37	4	25005688	25005688	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005688G>C	uc003grf.2	-	8	1122	c.1023C>G	c.(1021-1023)GTC>GTG	p.V341V		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	341	EAR 3.					extracellular region					0		Breast(46;0.173)				TGTCTGCGATGACAAAGAACG	0.468		NaN											0	0	0	0.01441	0	70	54				
LGI2	55203	broad.mit.edu	37	4	25005740	25005740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005740G>A	uc003grf.2	-	8	1070	c.971C>T	c.(970-972)TCC>TTC	p.S324F		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	324	EAR 3.					extracellular region					0		Breast(46;0.173)				ATTGGGCTTGGAAATGCGAGA	0.473		NaN											0	0	0	0.01441	0	120	78				
SLC34A2	10568	broad.mit.edu	37	4	25664407	25664407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25664407G>A	uc003grr.2	+	3	274	c.193G>A	c.(193-195)GAG>AAG	p.E65K	SLC34A2_uc003grs.2_Missense_Mutation_p.E64K|SLC34A2_uc010iev.2_Missense_Mutation_p.E64K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	65	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				TGAGCCCACTGAGGTGGATGA	0.517		NaN											0	0	0	0.01441	0	103	64				
TBC1D19	55296	broad.mit.edu	37	4	26750122	26750122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:26750122G>A	uc003gsf.3	+	19	1679	c.1409G>A	c.(1408-1410)GGA>GAA	p.G470E	TBC1D19_uc010iew.2_Missense_Mutation_p.G470E|TBC1D19_uc011bxu.1_Missense_Mutation_p.G405E	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	470	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				AGAATCCTAGGATACAACTCT	0.383		NaN											0	0	0	0.01441	0	65	132				
WDR19	57728	broad.mit.edu	37	4	39271675	39271675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39271675G>C	uc003gtv.2	+	31	3592	c.3438G>C	c.(3436-3438)GAG>GAC	p.E1146D	WDR19_uc011byi.1_Missense_Mutation_p.E986D|WDR19_uc003gtw.1_Missense_Mutation_p.E743D	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1146					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTCCCTCCGAGATGGCCACCA	0.463		NaN											0	0	0	0.006122	0	19	58				
WDR19	57728	broad.mit.edu	37	4	39278656	39278656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39278656G>A	uc003gtv.2	+	34	3887	c.3733G>A	c.(3733-3735)GAG>AAG	p.E1245K	WDR19_uc011byi.1_Missense_Mutation_p.E1085K	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1245					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGATATATCTGAGATAGAAGA	0.418		NaN											0	0	0	0.013726	0	31	94				
KLB	152831	broad.mit.edu	37	4	39448203	39448203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39448203C>T	uc003gua.2	+	4	1954	c.1857C>T	c.(1855-1857)GCC>GCT	p.A619A	KLB_uc011byj.1_Silent_p.A610A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	619	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						ACCGACAGGCCCTGAGGTACT	0.597		NaN											0	0	0	0.001855	0	13	52				
PDS5A	23244	broad.mit.edu	37	4	39978093	39978093	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39978093C>T	uc003guv.3	-	2	645	c.105G>A	c.(103-105)AAG>AAA	p.K35K	PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.K35K	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	35					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CCGTGGTGATCTTGTCGGTGA	0.557		NaN									OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	64	84				
N4BP2	55728	broad.mit.edu	37	4	40103906	40103906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40103906G>A	uc003guy.3	+	4	779	c.441G>A	c.(439-441)CAG>CAA	p.Q147Q	N4BP2_uc010ifq.2_Silent_p.Q67Q|N4BP2_uc010ifr.2_Silent_p.Q67Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	147	Potential.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CCTTAATACAGAATGCTTTTG	0.333		NaN											0	0	0	0.004656	0	27	87				
N4BP2	55728	broad.mit.edu	37	4	40123254	40123254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40123254C>T	uc003guy.3	+	9	3861	c.3523C>T	c.(3523-3525)CCT>TCT	p.P1175S	N4BP2_uc010ifq.2_Missense_Mutation_p.P1095S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1175						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TTCTAATTCTCCTGTGCCAGA	0.418		NaN											0	0	0	0.003271	0	36	82				
N4BP2	55728	broad.mit.edu	37	4	40144375	40144375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40144375G>A	uc003guy.3	+	15	5206	c.4868G>A	c.(4867-4869)AGA>AAA	p.R1623K	N4BP2_uc010ifq.2_Missense_Mutation_p.R1543K|N4BP2_uc010ifr.2_Missense_Mutation_p.R1526K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1623						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GATGACTACAGAGCAGAGGCT	0.413		NaN											0	0	0	0.007291	0	28	91				
RHOH	399	broad.mit.edu	37	4	40245409	40245409	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40245409G>A	uc003guz.2	+	3	1127	c.403G>A	c.(403-405)GAA>AAA	p.E135K		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	135					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						CAATGCCATGGAAGGGAAGAA	0.612		NaN											0	0	0	0.004007	0	15	41				
CHRNA9	55584	broad.mit.edu	37	4	40350954	40350954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40350954G>A	uc003gva.1	+	4	437	c.421G>A	c.(421-423)GGG>AGG	p.G141R		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	141	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	GCGGTATGATGGGCTGATCAC	0.507		NaN											0	0	0	0.007291	0	29	117				
GABRG1	2565	broad.mit.edu	37	4	46053535	46053535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:46053535G>A	uc003gxb.2	-	8	1189	c.1037C>T	c.(1036-1038)GCA>GTA	p.A346V		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	346	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATCAAGGCTGCAAAAACAAA	0.373		NaN											0	0	0	0.003163	0	16	43				
ATP10D	57205	broad.mit.edu	37	4	47565643	47565643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47565643C>T	uc003gxk.1	+	15	2878	c.2714C>T	c.(2713-2715)TCT>TTT	p.S905F	ATP10D_uc003gxl.1_Missense_Mutation_p.S153F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	905	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTCCCTGAATCTATAGAAGCT	0.473		NaN											0	0	0	0.00245	0	15	50				
ATP10D	57205	broad.mit.edu	37	4	47578955	47578955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47578955C>G	uc003gxk.1	+	19	3696	c.3532C>G	c.(3532-3534)CTG>GTG	p.L1178V	ATP10D_uc003gxl.1_Missense_Mutation_p.L426V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1178	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CCTCATGCAACTGCCTGAACT	0.438		NaN											0	0	0	0.00632	0	29	119				
SLAIN2	57606	broad.mit.edu	37	4	48422195	48422195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48422195C>T	uc003gya.3	+	7	1558	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	472						centrosome					0						TTTGGCTCTTCGGCAACCAGT	0.478		NaN											0	0	0	0.008291	0	10	39				
FRYL	285527	broad.mit.edu	37	4	48525073	48525073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48525073C>T	uc003gyh.1	-	54	7971	c.7366G>A	c.(7366-7368)GAC>AAC	p.D2456N	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.D1152N|FRYL_uc003gyi.1_Missense_Mutation_p.D1344N|FRYL_uc003gyj.1_Missense_Mutation_p.D751N	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2456					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCAATACTGTCCAGTGAGCGC	0.483		NaN											0	0	0	0.007835	0	40	55				
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48605373C>T	uc003gyh.1	-	12	1472	c.867G>A	c.(865-867)TTG>TTA	p.L289L	FRYL_uc003gyk.2_Silent_p.L289L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CAAAATTTTTCAAACAGGGAA	0.289		NaN											0	0	0	0.006999	0	41	63				
KIT	3815	broad.mit.edu	37	4	55524236	55524236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:55524236C>T	uc010igr.2	+	1	142	c.55C>T	c.(55-57)CGC>TGC	p.R19C	KIT_uc010igs.2_Missense_Mutation_p.R19C	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	19					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTACTGCTTCGCGTCCAGAC	0.667		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				0	0	0	0.013537	0	11	17				
LPHN3	23284	broad.mit.edu	37	4	62813849	62813849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:62813849C>T	uc010ihh.2	+	14	2629	c.2456C>T	c.(2455-2457)TCA>TTA	p.S819L	LPHN3_uc003hcq.3_Missense_Mutation_p.S819L|LPHN3_uc003hct.2_Missense_Mutation_p.S212L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	806	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CCTAACTGTTCATTTTGGAGC	0.383		NaN											0	0	0	0.00308	0	7	26				
TMPRSS11A	339967	broad.mit.edu	37	4	68784859	68784859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:68784859C>T	uc003hdr.1	-	8	914	c.793G>A	c.(793-795)GAG>AAG	p.E265K	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E262K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	265	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						CGGTACTTCTCATGGATAATA	0.408		NaN											0	0	0	0.01441	0	60	74				
AFM	173	broad.mit.edu	37	4	74350018	74350018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:74350018G>A	uc003hhb.2	+	3	212	c.181G>A	c.(181-183)GAA>AAA	p.E61K		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	61	Albumin 1.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCAACCTTTGAAGAAATGGA	0.403		NaN											0	0	0	0.00333	0	25	69				
RCHY1	25898	broad.mit.edu	37	4	76434446	76434446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76434446G>A	uc003hik.2	-	2	283	c.151C>T	c.(151-153)CAA>TAA	p.Q51*	RCHY1_uc003hij.2_Nonsense_Mutation_p.Q51*|RCHY1_uc003hil.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iip.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Intron	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain	51	CHY-type.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGATCTAGTTGATGATCTTCA	0.348		NaN											0	0	0	0.008361	0	29	15				
PPEF2	5470	broad.mit.edu	37	4	76781894	76781894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76781894C>T	uc003hix.2	-	17	2545	c.2188G>A	c.(2188-2190)GAG>AAG	p.E730K	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	730					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCGCCCTCTGGGCAGGAT	0.507		NaN											0	0	0	0.00278	0	24	48				
PPEF2	5470	broad.mit.edu	37	4	76782018	76782018	+	Missense_Mutation	SNP	C	C	T	rs148045586		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76782018C>T	uc003hix.2	-	17	2421	c.2064G>A	c.(2062-2064)ATG>ATA	p.M688I	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	688					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTCGATATTCATGTGAGAGC	0.453		NaN											0	0	0	0.00333	0	25	84				
SDAD1	55153	broad.mit.edu	37	4	76895235	76895235	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76895235G>A	uc003hje.3	-	7	749	c.630C>T	c.(628-630)GTC>GTT	p.V210V	SDAD1_uc003hjf.3_Silent_p.V113V|SDAD1_uc011cbr.1_Silent_p.V173V	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	210					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCACCTTGGTGACCTTAGAGA	0.418		NaN											0	0	0	0.00333	0	24	65				
SCARB2	950	broad.mit.edu	37	4	77100813	77100813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77100813C>T	uc003hju.1	-	4	808	c.469G>A	c.(469-471)GAG>AAG	p.E157K	SCARB2_uc011cbu.1_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	157	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			AACATGGCCTCGATGATCTCC	0.498		NaN									OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	136	113				
SHROOM3	57619	broad.mit.edu	37	4	77660886	77660886	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77660886G>A	uc011cbx.1	+	5	2513	c.1560G>A	c.(1558-1560)CAG>CAA	p.Q520Q	SHROOM3_uc011cbz.1_Silent_p.Q344Q|SHROOM3_uc003hkf.1_Silent_p.Q395Q|SHROOM3_uc003hkg.2_Silent_p.Q298Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	520					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			ATGGGAACCAGAATGGATCTG	0.532		NaN											0	0	0	0.01441	0	64	48				
PRDM8	56978	broad.mit.edu	37	4	81123465	81123465	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:81123465C>T	uc010ijo.2	+	8	1688	c.849C>T	c.(847-849)CTC>CTT	p.L283L	PRDM8_uc003hmb.3_Silent_p.L283L|PRDM8_uc003hmc.3_Silent_p.L283L	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCCAGAGCCTCAgcagcggta	0.562		NaN									OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	8				
TMEM150C	441027	broad.mit.edu	37	4	83406710	83406710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83406710G>A	uc003hmy.1	-	8	782	c.704C>T	c.(703-705)TCA>TTA	p.S235L	TMEM150C_uc011ccj.1_Missense_Mutation_p.S265L	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	transmembrane protein 150C	235						integral to membrane				ovary(1)	1						CAGGCTTTCTGAGAAGCTTAG	0.493		NaN											0	0	0	0.004482	0	9	12				
WDFY3	23001	broad.mit.edu	37	4	85672802	85672802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:85672802C>G	uc003hpd.2	-	36	6215	c.5807G>C	c.(5806-5808)GGG>GCG	p.G1936A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1936						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGTTCATCCCTGTGTCTGC	0.443		NaN											0	0	0	0.007291	0	28	142				
PTPN13	5783	broad.mit.edu	37	4	87653921	87653921	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:87653921T>C	uc003hpz.2	+	12	2338	c.1858_splice	c.e12+2	p.D620_splice	PTPN13_uc003hpy.2_Splice_Site_p.D620_splice|PTPN13_uc003hqa.2_Splice_Site_p.D620_splice|PTPN13_uc003hqb.2_Splice_Site_p.D620_splice	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCCTCAAAGGTACCAAGACAT	0.358		NaN											0	0	0	0.00245	0	15	19				
BMPR1B	658	broad.mit.edu	37	4	96051059	96051059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96051059G>A	uc003htm.3	+	9	906	c.632G>A	c.(631-633)GGA>GAA	p.G211E	BMPR1B_uc010ilb.2_Missense_Mutation_p.G211E|BMPR1B_uc003htn.3_Missense_Mutation_p.G211E	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	211	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAACAGATTGGAAAAGGTCGC	0.458		NaN											0	0	0	0.003163	0	14	27				
UNC5C	8633	broad.mit.edu	37	4	96199421	96199421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96199421G>A	uc003htp.1	-	4	737	c.583C>T	c.(583-585)CCA>TCA	p.P195S	UNC5C_uc010ilc.1_Missense_Mutation_p.P195S|UNC5C_uc003htq.2_Missense_Mutation_p.P195S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	195	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGCCACTGGGATCCCTTCA	0.453		NaN											0	0	0	0.00245	0	14	52				
DAPP1	27071	broad.mit.edu	37	4	100756843	100756843	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:100756843C>T	uc003hvf.3	+	2	255	c.165C>T	c.(163-165)GAC>GAT	p.D55D	DAPP1_uc011cek.1_Silent_p.D55D|DAPP1_uc010ilh.2_Silent_p.D55D	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and	55	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGATGTGACGGCAGCTACC	0.547		NaN											0	0	0	0.013114	0	48	65				
UBE2D3	7323	broad.mit.edu	37	4	103723730	103723730	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:103723730G>C	uc003hwk.2	-	5	647	c.186C>G	c.(184-186)TTC>TTG	p.F62L	UBE2D3_uc003hwi.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.F62L|UBE2D3_uc011cet.1_Missense_Mutation_p.F62L|UBE2D3_uc011ceu.1_Missense_Mutation_p.F62L|UBE2D3_uc003hwo.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwp.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwq.2_Missense_Mutation_p.F64L|UBE2D3_uc003hwr.2_Missense_Mutation_p.F62L	NM_181887	NP_871616	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 1	62					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TAGGTGGTTTGAAGGGGTAGT	0.343		NaN											0	0	0	0.01441	0	50	70				
TBCK	93627	broad.mit.edu	37	4	107154786	107154786	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107154786C>T	uc010ilv.2	-	16	1836	c.1471G>A	c.(1471-1473)GAT>AAT	p.D491N	TBCK_uc003hyb.2_Missense_Mutation_p.D234N|TBCK_uc003hye.2_Missense_Mutation_p.D452N|TBCK_uc003hyc.2_Missense_Mutation_p.D428N|TBCK_uc003hyd.2_Missense_Mutation_p.D319N|TBCK_uc003hyf.2_Missense_Mutation_p.D491N	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	491	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						TCAATTGCATCGTACTTGGCA	0.269		NaN											0	0	0	0.008871	0	17	21				
DKK2	27123	broad.mit.edu	37	4	107956627	107956627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107956627G>A	uc003hyi.2	-	1	827	c.122C>T	c.(121-123)TCT>TTT	p.S41F	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S41F	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	41					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCGCCCAGAGAGGACTTGAT	0.612		NaN											0	0	0	0.01441	0	41	18				
SEC24B	10427	broad.mit.edu	37	4	110384687	110384687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110384687C>T	uc003hzk.2	+	2	819	c.764C>T	c.(763-765)TCA>TTA	p.S255L	SEC24B_uc003hzl.2_Missense_Mutation_p.S255L|SEC24B_uc011cfp.1_Missense_Mutation_p.S286L|SEC24B_uc011cfq.1_Missense_Mutation_p.S255L|SEC24B_uc011cfr.1_Missense_Mutation_p.S255L	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	255					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAAAGTCTTTCAGGATACAGT	0.473		NaN											0	0	0	0.01441	0	76	13				
SEC24B	10427	broad.mit.edu	37	4	110460768	110460768	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110460768G>C	uc003hzk.2	+	24	3799	c.3744G>C	c.(3742-3744)CGG>CGC	p.R1248R	SEC24B_uc003hzl.2_Silent_p.R1213R|SEC24B_uc011cfp.1_Silent_p.R1278R|SEC24B_uc011cfq.1_Silent_p.R1247R|SEC24B_uc011cfr.1_Silent_p.R1212R	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1248					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTGAAGACCGGACAGAGGCTG	0.328		NaN											0	0	0	0.010771	0	44	24				
CFI	3426	broad.mit.edu	37	4	110682771	110682771	+	Missense_Mutation	SNP	C	C	T	rs143366614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110682771C>T	uc003hzr.3	-	4	768	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Missense_Mutation_p.R187Q|CFI_uc003hzs.3_Missense_Mutation_p.R187Q	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	187	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCTAATCCTCGGCAATGCAC	0.388		NaN											0	0	0	0.01441	0	111	23				
ANK2	287	broad.mit.edu	37	4	114232546	114232546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:114232546G>A	uc003ibe.3	+	24	2784	c.2684G>A	c.(2683-2685)CGA>CAA	p.R895Q	ANK2_uc003ibd.3_Missense_Mutation_p.R874Q|ANK2_uc003ibf.3_Missense_Mutation_p.R895Q|ANK2_uc011cgc.1_Missense_Mutation_p.R104Q|ANK2_uc003ibc.2_Missense_Mutation_p.R871Q|ANK2_uc011cgb.1_Missense_Mutation_p.R910Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	895					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGAGGACGATCTGACAGG	0.388		NaN											0	0	0	0.006214	0	9	37				
PDE5A	8654	broad.mit.edu	37	4	120549792	120549792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:120549792C>T	uc003idh.2	-	1	190	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	PDE5A_uc003idf.2_5'Flank|PDE5A_uc003idg.2_5'Flank|uc003idj.1_5'UTR	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	12	Poly-Gln.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ctgctgctgtcgctgctgcCC	0.483		NaN									OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	24	9				
NAA15	80155	broad.mit.edu	37	4	140291390	140291390	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:140291390G>C	uc003ihu.1	+	15	2035	c.1779G>C	c.(1777-1779)AAG>AAC	p.K593N		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	593					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						AAGAGCTAAAGAAGCTACGTA	0.219		NaN											0	0	0	0.010504	0	18	2				
ZNF330	27309	broad.mit.edu	37	4	142155060	142155060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:142155060G>A	uc003iiq.3	+	10	1100	c.880G>A	c.(880-882)GAG>AAG	p.E294K	ZNF330_uc011chl.1_Missense_Mutation_p.E234K	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	294						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					TTCAGATACTGAGTCATCAGA	0.313		NaN											0	0	0	0.010504	0	20	43				
USP38	84640	broad.mit.edu	37	4	144109040	144109040	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:144109040G>C	uc003ijb.2	+	2	1278	c.744G>C	c.(742-744)ATG>ATC	p.M248I	USP38_uc003ija.3_Missense_Mutation_p.M248I|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	248					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					CTCTTCAGATGATTACAGTTC	0.398		NaN											0	0	0	0.006122	0	19	45				
HHIP	64399	broad.mit.edu	37	4	145567932	145567932	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:145567932G>T	uc003ijs.1	+	1	760	c.105G>T	c.(103-105)AGG>AGT	p.R35S	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R35S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	35	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCGGAGCAAGGAGGAGAAGGT	0.562		NaN											1	0	2.4624e-09	0.008871	2.55543e-09	21	64				
OTUD4	54726	broad.mit.edu	37	4	146067481	146067481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:146067481C>T	uc003ika.3	-	14	1303	c.1165G>A	c.(1165-1167)GAA>AAA	p.E389K	OTUD4_uc003ijz.3_Missense_Mutation_p.E388K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	453							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CGGGATTCTTCTATAGCTTGC	0.408		NaN											0	0	0	0.01441	0	67	57				
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:153247165G>A	uc003ims.2	-	10	1786	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L	FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	546	WD 5.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.01441	0	86	27		Valid		
KIAA0922	23240	broad.mit.edu	37	4	154525365	154525365	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154525365C>T	uc003inm.3	+	25	3250	c.3198C>T	c.(3196-3198)TTC>TTT	p.F1066F	KIAA0922_uc010ipp.2_Silent_p.F1067F|KIAA0922_uc010ipq.2_Silent_p.F835F	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1066	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CAATTGTTTTCAGTAATCCTT	0.358		NaN											0	0	0	0.00278	0	25	54				
KIAA0922	23240	broad.mit.edu	37	4	154542885	154542885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154542885C>G	uc003inm.3	+	28	3792	c.3740C>G	c.(3739-3741)TCT>TGT	p.S1247C	KIAA0922_uc010ipp.2_Missense_Mutation_p.S1248C|KIAA0922_uc010ipq.2_Missense_Mutation_p.S1016C	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1247	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TTTGAGAGGTCTGAGCTGAGC	0.428		NaN											0	0	0	0.012319	0	21	40				
NAF1	92345	broad.mit.edu	37	4	164087539	164087539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:164087539G>A	uc003iqj.2	-	1	535	c.341C>T	c.(340-342)TCG>TTG	p.S114L	NAF1_uc010iqw.1_Missense_Mutation_p.S114L|NAF1_uc003iqk.2_RNA	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	114	Ser-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCCGAGTCCGAGGTCTCCAA	0.706		NaN											0	0	0	0.013537	0	12	10				
DDX60L	91351	broad.mit.edu	37	4	169351708	169351708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:169351708G>A	uc003irq.3	-	13	1819	c.1598C>T	c.(1597-1599)TCA>TTA	p.S533L	DDX60L_uc003irr.1_Missense_Mutation_p.S533L|DDX60L_uc003irs.1_Missense_Mutation_p.S260L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	533							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGTAGAGATTGATTCTAACGA	0.373		NaN											0	0	0	0.000602	0	5	14				
SLC9A3	6550	broad.mit.edu	37	5	475147	475147	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:475147C>T	uc003jbe.2	-	16	2464	c.2352G>A	c.(2350-2352)TCG>TCA	p.S784S	SLC9A3_uc011clx.1_Silent_p.S775S|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	784	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGCCCTCTGCGAGGGGACCA	0.672		NaN											0	0	0	0.00308	0	7	11				
SLC12A7	10723	broad.mit.edu	37	5	1081816	1081816	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081816C>T	uc003jbu.2	-	9	1239	c.1173G>A	c.(1171-1173)GAG>GAA	p.E391E		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	391					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CACCTTTCTTCTCCACAAACG	0.652		NaN											0	0	0	0.008291	0	10	35				
SLC12A7	10723	broad.mit.edu	37	5	1081819	1081819	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081819C>T	uc003jbu.2	-	9	1236	c.1170G>A	c.(1168-1170)GTG>GTA	p.V390V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	390					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTTCTTCTCCACAAACGCCC	0.652		NaN											0	0	0	0.006214	0	9	35				
SLC6A18	348932	broad.mit.edu	37	5	1239598	1239598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1239598G>A	uc003jby.1	+	6	889	c.766G>A	c.(766-768)GAC>AAC	p.D256N		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	256	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGTGGCTGGACGCAGCCAC	0.577		NaN											0	0	0	0.01441	0	60	62				
SLC6A3	6531	broad.mit.edu	37	5	1420746	1420746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1420746C>T	uc003jck.2	-	6	986	c.865G>A	c.(865-867)GGA>AGA	p.G289R		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	289					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTATGGCTCCAGGGAGGGTG	0.597		NaN											0	0	0	0.007413	0	19	77				
NSUN2	54888	broad.mit.edu	37	5	6604332	6604332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:6604332C>T	uc003jdu.2	-	17	1941	c.1876G>A	c.(1876-1878)GAT>AAT	p.D626N	NSUN2_uc003jds.2_Missense_Mutation_p.D72N|NSUN2_uc003jdt.2_Missense_Mutation_p.D390N|NSUN2_uc011cmk.1_Missense_Mutation_p.D591N|NSUN2_uc003jdv.2_Missense_Mutation_p.D390N	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	626						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						ATCTTAACATCTTCCATTGAT	0.363		NaN											0	0	0	0.003954	0	27	56				
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:7870910G>A	uc003jed.2	+	2	114	c.84G>A	c.(82-84)ATG>ATA	p.M28I	FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	28					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403		NaN											0	0	0	0.01441	0	56	52				
SEMA5A	9037	broad.mit.edu	37	5	9202334	9202334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:9202334G>A	uc003jek.2	-	9	1377	c.665C>T	c.(664-666)TCT>TTT	p.S222F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	222	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GATGTCATAAGATGACACAAA	0.418		NaN											0	0	0	0.003163	0	15	29				
FAM134B	54463	broad.mit.edu	37	5	16475032	16475032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16475032G>C	uc003jfs.2	-	9	1350	c.1312C>G	c.(1312-1314)CAG>GAG	p.Q438E	FAM134B_uc003jfr.2_Missense_Mutation_p.Q297E	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	438					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3						GGGGCAGCCTGAGAAAGTGCT	0.498		NaN											0	0	0	0.007413	0	18	55				
MYO10	4651	broad.mit.edu	37	5	16680071	16680071	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16680071C>T	uc003jft.3	-	33	4995	c.4527G>A	c.(4525-4527)CTG>CTA	p.L1509L	MYO10_uc011cnb.1_Silent_p.L138L|MYO10_uc011cnc.1_Silent_p.L388L|MYO10_uc011cnd.1_Silent_p.L866L|MYO10_uc011cne.1_Silent_p.L866L|MYO10_uc010itx.2_Silent_p.L1131L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1509					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TATCTTGAATCAGCTGCTGGG	0.537		NaN											0	0	0	0.001168	0	5	21				
PRDM9	56979	broad.mit.edu	37	5	23522739	23522739	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:23522739G>C	uc003jgo.2	+	8	809	c.627G>C	c.(625-627)CAG>CAC	p.Q209H		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGATGTGTCAGAACTTCTTCA	0.488		NaN								HNSCC(3;0.000094)			0	0	0	0.006214	0	9	24				
CDH6	1004	broad.mit.edu	37	5	31302360	31302360	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:31302360C>T	uc003jhe.1	+	6	1280	c.954C>T	c.(952-954)GTC>GTT	p.V318V	CDH6_uc003jhd.1_Silent_p.V318V	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	318	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						TGTTTGATGTCATCACCGACC	0.453		NaN											0	0	0	0.008291	0	11	47				
ADAMTS12	81792	broad.mit.edu	37	5	33641932	33641932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:33641932C>T	uc003jia.1	-	11	1864	c.1701G>A	c.(1699-1701)AGG>AGA	p.R567R	ADAMTS12_uc010iuq.1_Silent_p.R567R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	567	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGTTGCAGAGCCTCTCTGCGC	0.592		NaN								HNSCC(64;0.19)			0	0	0	0.010504	0	19	54				
CAPSL	133690	broad.mit.edu	37	5	35921175	35921175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:35921175C>G	uc003jjt.1	-	2	143	c.48G>C	c.(46-48)AAG>AAC	p.K16N	CAPSL_uc003jju.1_Missense_Mutation_p.K16N	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	16						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGAGCTTTTTCTTGGCCTGGA	0.612		NaN											0	0	0	0.001855	0	14	35				
EGFLAM	133584	broad.mit.edu	37	5	38464063	38464063	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38464063A>C	uc003jlc.1	+	23	3353	c.3029A>C	c.(3028-3030)AAC>ACC	p.N1010T	EGFLAM_uc003jlb.1_Missense_Mutation_p.N1002T|EGFLAM_uc003jle.1_Missense_Mutation_p.N768T|EGFLAM_uc003jlf.1_Missense_Mutation_p.N368T|EGFLAM_uc003jlg.1_Missense_Mutation_p.N145T|EGFLAM_uc003jlh.1_Missense_Mutation_p.N92T	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	1010	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GATGGGAAAAACATCAACACT	0.532		NaN											0	0	0	0.006214	0	10	24				
OSMR	9180	broad.mit.edu	37	5	38904542	38904542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38904542G>C	uc003jln.1	+	9	1589	c.1222G>C	c.(1222-1224)GAT>CAT	p.D408H		NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	408	Fibronectin type-III 1.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					ACGGTGTGCTGATGCCAGCCA	0.478		NaN											0	0	0	0.00499	0	16	55				
RICTOR	253260	broad.mit.edu	37	5	38945050	38945050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38945050G>A	uc003jlp.2	-	35	4778	c.4754C>T	c.(4753-4755)TCA>TTA	p.S1585L	RICTOR_uc003jlo.2_Missense_Mutation_p.S1609L|RICTOR_uc010ivf.2_Missense_Mutation_p.S1262L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1585					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GCTGCTAGCTGAGCCTTCTTG	0.403		NaN											0	0	0	0.00874	0	40	124				
CARD6	84674	broad.mit.edu	37	5	40853853	40853853	+	Missense_Mutation	SNP	C	C	T	rs34452222		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40853853C>T	uc003jmg.2	+	3	2494	c.2419C>T	c.(2419-2421)CGG>TGG	p.R807W		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	807					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						CAGAGTTGCTCGGGGATGTCA	0.473		NaN											0	0	0	0.01441	0	87	300				
HEATR7B2	133558	broad.mit.edu	37	5	40998246	40998246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40998246G>A	uc003jmj.3	-	42	5156	c.4666C>T	c.(4666-4668)CGT>TGT	p.R1556C	HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1111C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1556							binding			ovary(6)|central_nervous_system(2)	8						GGATCTTGACGAAGTGCTTGG	0.483		NaN											0	0	0	0.01441	0	58	159				
HEATR7B2	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009477C>T	uc003jmj.3	-	32	3815	c.3325G>A	c.(3325-3327)GAA>AAA	p.E1109K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1109							binding			ovary(6)|central_nervous_system(2)	8						GCTGGCTTTTCAGCCAGCGCC	0.498		NaN											0	0	0	0.008361	0	15	55				
HEATR7B2	133558	broad.mit.edu	37	5	41009499	41009499	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009499C>T	uc003jmj.3	-	32	3793	c.3303G>A	c.(3301-3303)AAG>AAA	p.K1101K	HEATR7B2_uc003jmi.3_Silent_p.K656K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1101							binding			ovary(6)|central_nervous_system(2)	8						TCCACAATGTCTTTGTGTCCC	0.473		NaN											0	0	0	0.00278	0	23	76				
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:52096666C>T	uc003jos.2	+	2	1423	c.438C>T	c.(436-438)CTC>CTT	p.L146L	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	146					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582		NaN											0	0	0	0.009096	0	4	16				
SNX18	112574	broad.mit.edu	37	5	53815651	53815651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:53815651G>A	uc003jpj.3	+	1	2059	c.1869G>A	c.(1867-1869)ATG>ATA	p.M623I	SNX18_uc011cqg.1_Intron|SNX18_uc003jpi.3_Intron	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	623	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TACCTTTGATGACAGTGCTAT	0.413		NaN											0	0	0	0.003163	0	15	44				
DHX29	54505	broad.mit.edu	37	5	54573026	54573026	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:54573026G>T	uc003jpx.2	-	13	2314	c.2194C>A	c.(2194-2196)CTA>ATA	p.L732I	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	732	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCACTCATTAGAATCAAGTGT	0.368		NaN											1	0	1.08611e-07	0.010729	1.12018e-07	11	67				
CWC27	10283	broad.mit.edu	37	5	64267618	64267618	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:64267618G>A	uc003jtn.1	+	12	1350	c.1131G>A	c.(1129-1131)AAG>AAA	p.K377K	CWC27_uc010iwt.1_Silent_p.K377K	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	377	Potential.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						AGTCAAAGAAGGGAACTTCCC	0.383		NaN											0	0	0	0.010729	0	11	40				
PIK3R1	5295	broad.mit.edu	37	5	67593263	67593263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:67593263G>A	uc003jva.2	+	16	2569	c.2009G>A	c.(2008-2010)TGT>TAT	p.C670Y	PIK3R1_uc003jvb.2_Missense_Mutation_p.C670Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.C370Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.C400Y|PIK3R1_uc003jve.2_Missense_Mutation_p.C349Y	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	670	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTAAAGCATTGTGTCATAAAC	0.433		NaN	Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			0	0	0	0.00623	0	40	114		Valid		
ENC1	8507	broad.mit.edu	37	5	73932241	73932241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:73932241G>A	uc003kdc.3	-	2	1201	c.70C>T	c.(70-72)CAC>TAC	p.H24Y	ENC1_uc011css.1_Intron	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	24					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAGGACTTGTGAAACAGATAG	0.473		NaN											0	0	0	0.00245	0	13	30				
FAM169A	26049	broad.mit.edu	37	5	74101053	74101053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:74101053C>T	uc003kdm.2	-	7	770	c.727G>A	c.(727-729)GAA>AAA	p.E243K	FAM169A_uc010izm.2_Missense_Mutation_p.E183K|FAM169A_uc003kdl.2_Missense_Mutation_p.E61K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	243											0						CCAACACCTTCAACTTCCCAA	0.383		NaN											0	0	0	0.014323	0	24	67				
VCAN	1462	broad.mit.edu	37	5	82815228	82815228	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:82815228C>G	uc003kii.3	+	7	1459	c.1103C>G	c.(1102-1104)TCC>TGC	p.S368C	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S368C|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	368	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCCAGTTTATCCAAAGAACCA	0.388		NaN											0	0	0	0.010771	0	42	89				
CCNH	902	broad.mit.edu	37	5	86700760	86700760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86700760C>T	uc003kjb.2	-	5	822	c.590G>A	c.(589-591)AGA>AAA	p.R197K	CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.R144K|CCNH_uc003kja.2_Missense_Mutation_p.R144K	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	197					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CAATGCAATTCTATTAAGAAA	0.408		NaN						Direct_reversal_of_damage|NER					0	0	0	0.004007	0	17	37				
CCNH	902	broad.mit.edu	37	5	86703827	86703827	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86703827T>G	uc003kjb.2	-	4	723	c.491A>C	c.(490-492)TAC>TCC	p.Y164S	CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.Y111S|CCNH_uc003kja.2_Missense_Mutation_p.Y111S	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	164					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AAATGGTCTGTAAGGATTGTG	0.363		NaN						Direct_reversal_of_damage|NER					0	0	0	0.00632	0	27	48				
FAM172A	83989	broad.mit.edu	37	5	92956830	92956830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:92956830C>T	uc010jbd.2	-	11	1321	c.1114G>A	c.(1114-1116)GAC>AAC	p.D372N	FAM172A_uc011cuf.1_Missense_Mutation_p.D326N|FAM172A_uc011cug.1_Missense_Mutation_p.D262N|FAM172A_uc011cuh.1_Missense_Mutation_p.D225N|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Silent_p.P101P|MIR2277_hsa-mir-2277|MI0011284_5'Flank	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	372						endoplasmic reticulum|extracellular region					0						TCGTGACGGTCGGTGCCTGCA	0.607		NaN											0	0	0	0.00308	0	8	20				
MAN2A1	4124	broad.mit.edu	37	5	109202634	109202634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:109202634C>T	uc003kou.1	+	22	4333	c.3370C>T	c.(3370-3372)CAG>TAG	p.Q1124*		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1124	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCCCGGCACTCAGAATATAAG	0.388		NaN											0	0	0	0.010818	0	33	77				
APC	324	broad.mit.edu	37	5	112111406	112111406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112111406G>C	uc010jby.2	+	5	883	c.503G>C	c.(502-504)AGA>ACA	p.R168T	APC_uc011cvt.1_Missense_Mutation_p.R178T|APC_uc003kpz.3_Missense_Mutation_p.R168T|APC_uc003kpy.3_Missense_Mutation_p.R168T|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	168	Leu-rich.|Potential.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCACTAAAAGAATAGATAGT	0.289		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.007291	0	29	57		Valid		
MCC	4163	broad.mit.edu	37	5	112418687	112418687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112418687C>T	uc003kqj.3	-	9	1614	c.1084G>A	c.(1084-1086)GAA>AAA	p.E362K	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E552K|MCC_uc011cwb.1_Missense_Mutation_p.E362K|MCC_uc010jcd.1_Missense_Mutation_p.E324K	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	362					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCAGGTGTTCAGCCACACTG	0.423		NaN											0	0	0	0.008871	0	20	47				
MCC	4163	broad.mit.edu	37	5	112458513	112458513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112458513C>T	uc003kqj.3	-	4	855	c.325G>A	c.(325-327)GAG>AAG	p.E109K	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E299K|MCC_uc011cwb.1_Missense_Mutation_p.E109K|MCC_uc010jcd.1_Missense_Mutation_p.E71K	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	109					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCTGAGTACTCATCTTCCTCC	0.463		NaN											0	0	0	0.00245	0	14	28				
FEM1C	56929	broad.mit.edu	37	5	114878661	114878661	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114878661C>G	uc003krb.1	-	2	1092	c.530G>C	c.(529-531)AGA>ACA	p.R177T		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	177	ANK 5.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GACACTTTTTCTATTAACATC	0.363		NaN											0	0	0	0.005443	0	27	83				
FEM1C	56929	broad.mit.edu	37	5	114879143	114879143	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114879143G>A	uc003krb.1	-	2	610	c.48C>T	c.(46-48)CTC>CTT	p.L16L		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	16	ANK 1.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGAGAAGCCGGAGTTTGCCAT	0.468		NaN											0	0	0	0.008361	0	31	30				
DMXL1	1657	broad.mit.edu	37	5	118533494	118533494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533494C>T	uc003ksd.2	+	32	7769	c.7588C>T	c.(7588-7590)CTT>TTT	p.L2530F	DMXL1_uc010jcl.1_Missense_Mutation_p.L2530F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2530										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTAAAAACTCTTCAATGTTG	0.403		NaN											0	0	0	0.008361	0	29	100				
DMXL1	1657	broad.mit.edu	37	5	118533569	118533569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533569C>T	uc003ksd.2	+	32	7844	c.7663C>T	c.(7663-7665)CAT>TAT	p.H2555Y	DMXL1_uc010jcl.1_Missense_Mutation_p.H2555Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2555										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATCGCAAGTCATACCGCCGA	0.428		NaN											0	0	0	0.009535	0	30	117				
SNCAIP	9627	broad.mit.edu	37	5	121758693	121758693	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:121758693G>A	uc003ksw.1	+	4	467	c.261G>A	c.(259-261)GAG>GAA	p.E87E	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Silent_p.E87E|SNCAIP_uc003ksx.1_Silent_p.E134E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.E87E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	87					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCAGCCAGAGACTCTGGAGA	0.507		NaN											0	0	0	0.00499	0	17	35				
ZNF608	57507	broad.mit.edu	37	5	124036770	124036770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036770C>G	uc003ktq.1	-	2	1222	c.1099G>C	c.(1099-1101)GGG>CGG	p.G367R	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.G367R|ZNF608_uc003ktt.1_Missense_Mutation_p.G367R	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	367						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCACAGGGCCCAAGACACTCT	0.453		NaN											0	0	0	0.004007	0	15	66				
ZNF608	57507	broad.mit.edu	37	5	124036909	124036909	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036909G>A	uc003ktq.1	-	2	1083	c.960C>T	c.(958-960)CTC>CTT	p.L320L	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.L320L|ZNF608_uc003ktt.1_Silent_p.L320L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512		NaN											0	0	0	0.010504	0	14	50				
ZNF608	57507	broad.mit.edu	37	5	124080028	124080028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124080028G>A	uc003ktq.1	-	1	778	c.655C>T	c.(655-657)CAG>TAG	p.Q219*	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Nonsense_Mutation_p.Q219*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.Q219*	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	219						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGTGGCCCTGAAGCAGGTCG	0.617		NaN											0	0	0	0.01441	0	41	29				
FNIP1	96459	broad.mit.edu	37	5	131039796	131039796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:131039796C>G	uc003kvs.1	-	10	1220	c.1078G>C	c.(1078-1080)GAA>CAA	p.E360Q	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.E332Q|FNIP1_uc010jdm.1_Missense_Mutation_p.E315Q|FNIP1_uc003kvu.2_Missense_Mutation_p.E360Q	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	360					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATGTGGCTTTCAAAGAGAGGA	0.274		NaN											0	0	0	0.00245	0	14	55				
LEAP2	116842	broad.mit.edu	37	5	132209663	132209663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132209663G>C	uc003kyc.2	+	2	108	c.79G>C	c.(79-81)GAA>CAA	p.E27Q	LEAP2_uc003kyb.1_Missense_Mutation_p.E27Q	NM_052971	NP_443203	Q969E1	LEAP2_HUMAN	liver-expressed antimicrobial peptide 2	27					defense response to bacterium	extracellular region					0		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAATACCAGAAGTGAGTTC	0.512		NaN											0	0	0	0.003271	0	34	20				
FSTL4	23105	broad.mit.edu	37	5	132534795	132534795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132534795C>T	uc003kyn.1	-	16	2739	c.2521G>A	c.(2521-2523)GAG>AAG	p.E841K	FSTL4_uc003kym.1_Missense_Mutation_p.E490K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	841						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCATACCTCACCCACCCAC	0.557		NaN											0	0	0	0.00308	0	7	21				
FSTL4	23105	broad.mit.edu	37	5	132535121	132535121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132535121G>A	uc003kyn.1	-	16	2413	c.2195C>T	c.(2194-2196)TCG>TTG	p.S732L	FSTL4_uc003kym.1_Missense_Mutation_p.S381L	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	732						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGATGCCCGAGTTTATTTG	0.572		NaN											0	0	0	0.004007	0	17	37				
C5orf15	56951	broad.mit.edu	37	5	133295697	133295697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:133295697C>T	uc003kyo.2	-	2	285	c.154G>A	c.(154-156)GAT>AAT	p.D52N		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	52	Extracellular (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTCGGTGAATCAGTCCGTGAT	0.368		NaN											0	0	0	0.010504	0	19	32				
TIFAB	497189	broad.mit.edu	37	5	134785161	134785161	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:134785161G>C	uc003law.3	-	2	670	c.469C>G	c.(469-471)CCC>GCC	p.P157A	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	157											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCAGGGGGAGGCTGCCCC	0.582		NaN											0	0	0	0.00499	0	18	68				
MATR3	9782	broad.mit.edu	37	5	138661216	138661216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138661216G>T	uc003ldu.2	+	16	2663	c.2236G>T	c.(2236-2238)GAA>TAA	p.E746*	MATR3_uc003ldt.2_Nonsense_Mutation_p.E408*|MATR3_uc003ldw.2_Nonsense_Mutation_p.E794*|MATR3_uc003ldx.2_Nonsense_Mutation_p.E746*|MATR3_uc010jfc.2_Nonsense_Mutation_p.E746*|MATR3_uc011czb.1_Nonsense_Mutation_p.E458*|MATR3_uc003ldz.2_Nonsense_Mutation_p.E746*|MATR3_uc003lea.2_Nonsense_Mutation_p.E746*|MATR3_uc003leb.2_Nonsense_Mutation_p.E408*|MATR3_uc003lec.2_Nonsense_Mutation_p.E423*	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	746						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCAGGTGCTGAATCTTCTGA	0.408		NaN											1	0	1.33834e-09	0.007413	1.38957e-09	18	55				
MATR3	9782	broad.mit.edu	37	5	138665072	138665072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138665072G>C	uc003ldu.2	+	18	2959	c.2532G>C	c.(2530-2532)AAG>AAC	p.K844N	MATR3_uc003ldt.2_Missense_Mutation_p.K506N|MATR3_uc003ldw.2_Missense_Mutation_p.K892N|MATR3_uc003ldx.2_Missense_Mutation_p.K844N|MATR3_uc010jfc.2_3'UTR|MATR3_uc011czb.1_Missense_Mutation_p.K556N|MATR3_uc003ldz.2_Missense_Mutation_p.K844N|MATR3_uc003lea.2_Missense_Mutation_p.K844N|MATR3_uc003leb.2_Missense_Mutation_p.K506N|MATR3_uc003lec.2_Missense_Mutation_p.K521N	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	844						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGACAGAAGAAGGAAACTT	0.289		NaN											0	0	0	0.004007	0	17	88				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:139905595C>T	uc003lfs.1	+	26	4631	c.4507C>T	c.(4507-4509)CCC>TCC	p.P1503S	ANKHD1_uc003lfr.2_Missense_Mutation_p.P1503S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P983S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P242S|ANKHD1_uc003lfw.2_Missense_Mutation_p.P141S|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1503						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358		NaN											0	0	0	0.00278	0	24	76				
PCDHA9	9752	broad.mit.edu	37	5	140230192	140230192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140230192C>G	uc003lhu.2	+	1	2836	c.2112C>G	c.(2110-2112)ATC>ATG	p.I704M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I704M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	704	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662		NaN											0	0	0	0.009535	0	31	31				
PCDHAC1	56135	broad.mit.edu	37	5	140308755	140308755	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140308755C>T	uc003lih.2	+	1	2454	c.2278C>T	c.(2278-2280)CTG>TTG	p.L760L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L760L	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	760	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCCTCTCTGGGACTTGG	0.463		NaN											0	0	0	0.01441	0	54	66				
PCDHB1	29930	broad.mit.edu	37	5	140431478	140431478	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140431478G>A	uc003lik.1	+	1	500	c.423G>A	c.(421-423)AAG>AAA	p.K141K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	141	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTTTTAAAGATTCCGGAGA	0.547		NaN											0	0	0	0.00308	0	8	41				
PCDHB4	56131	broad.mit.edu	37	5	140502976	140502976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140502976G>A	uc003lip.1	+	1	1396	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	466	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.647		NaN											0	0	0	0.004289	0	26	44				
PCDHB11	56125	broad.mit.edu	37	5	140579748	140579748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140579748C>T	uc003liy.2	+	1	401	c.401C>T	c.(400-402)TCG>TTG	p.S134L	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	134	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCATCTTCTCGGAAAAACAA	0.428		NaN											0	0	0	0.009718	0	43	151				
PCDHGA5	56110	broad.mit.edu	37	5	140744168	140744168	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140744168G>A	uc003lju.1	+	1	271	c.271G>A	c.(271-273)GAC>AAC	p.D91N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D91N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	91	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGGATAGACCGGGAGGA	0.542		NaN											0	0	0	0.00278	0	20	33				
PCDHGB6	56100	broad.mit.edu	37	5	140788029	140788029	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140788029A>C	uc003lkj.1	+	1	260	c.260A>C	c.(259-261)AAG>ACG	p.K87T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.K87T	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	87	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTGTGAAGAACCGAATA	0.488		NaN											0	0	0	0.00632	0	28	78				
YIPF5	81555	broad.mit.edu	37	5	143549462	143549462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:143549462C>T	uc003lnk.3	-	2	499	c.58G>A	c.(58-60)GAT>AAT	p.D20N	KCTD16_uc003lnm.1_5'Flank|YIPF5_uc003lnl.3_Missense_Mutation_p.D20N|YIPF5_uc010jgl.2_Intron	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	20	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTGACTGATCATCGATGCTG	0.358		NaN											0	0	0	0.01441	0	82	55				
GRXCR2	643226	broad.mit.edu	37	5	145252343	145252343	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:145252343A>G	uc003lns.1	-	1	189	c.189T>C	c.(187-189)GGT>GGC	p.G63G		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	63											0						ACCCATAAACACCATCCATTG	0.498		NaN											0	0	0	0.01441	0	49	83				
STK32A	202374	broad.mit.edu	37	5	146763487	146763487	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:146763487C>A	uc010jgn.1	+	13	1412	c.1132C>A	c.(1132-1134)CTA>ATA	p.L378I	STK32A_uc011dbw.1_Missense_Mutation_p.L378I	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	378							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCAAATCTAGCCTTGGA	0.338		NaN											1	0	8.00594e-06	0.007413	8.1909e-06	17	26				
GRPEL2	134266	broad.mit.edu	37	5	148730750	148730750	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:148730750G>A	uc003lqj.2	+	4	709	c.583G>A	c.(583-585)GTG>ATG	p.V195M	GRPEL2_uc011dca.1_3'UTR	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial precursor	195					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCACCGTGGCATTAGT	0.532		NaN											0	0	0	0.01441	0	55	59				
SLC36A1	206358	broad.mit.edu	37	5	150847396	150847396	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:150847396C>A	uc003luc.2	+	7	850	c.633C>A	c.(631-633)ATC>ATA	p.I211I	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.I211I|SLC36A1_uc010jhw.1_Silent_p.I211I	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	211	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TGGTTTTCATCAGGAACCTCC	0.522		NaN											1	0	2.39187e-15	0.008871	2.51349e-15	18	56				
CCNJL	79616	broad.mit.edu	37	5	159682612	159682612	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:159682612C>T	uc003lyb.1	-	6	1083	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	CCNJL_uc011dee.1_Silent_p.Q229Q|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.Q229Q	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	277						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGATCCTCTGCAGGTCTC	0.507		NaN											0	0	0	0.01441	0	76	78				
ODZ2	57451	broad.mit.edu	37	5	167655045	167655045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:167655045G>A	uc010jjd.2	+	25	5403	c.5403G>A	c.(5401-5403)CTG>CTA	p.L1801L	ODZ2_uc003lzr.3_Silent_p.L1571L|ODZ2_uc003lzt.3_Silent_p.L1174L|ODZ2_uc010jje.2_Silent_p.L1065L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACATCTCCCTGCCTATGGAGA	0.527		NaN											0	0	0	0.010729	0	10	4				
DOCK2	1794	broad.mit.edu	37	5	169122855	169122855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:169122855C>T	uc003maf.2	+	10	972	c.892C>T	c.(892-894)CAA>TAA	p.Q298*	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	298					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGATTTGTCAAATAGTCCG	0.473		NaN											0	0	0	0.01441	0	52	45				
KCNIP1	30820	broad.mit.edu	37	5	170159845	170159845	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:170159845G>A	uc003mas.2	+	7	1039	c.510G>A	c.(508-510)GGG>GGA	p.G170G	KCNIP1_uc003map.2_Silent_p.G168G|KCNIP1_uc003mat.2_Silent_p.G159G|KCNIP1_uc010jjp.2_Silent_p.G131G|KCNIP1_uc010jjq.2_Silent_p.G184G	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	170					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATGATGGGGAAATACACAT	0.493		NaN											0	0	0	0.010504	0	19	44				
STK10	6793	broad.mit.edu	37	5	171517361	171517361	+	Silent	SNP	C	C	T	rs148086376		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:171517361C>T	uc003mbo.1	-	10	1860	c.1560G>A	c.(1558-1560)CCG>CCA	p.P520P		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	520							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACAGTTTCGGGTCCTGGC	0.532		NaN											0	0	0	0.01441	0	44	129				
CPLX2	10814	broad.mit.edu	37	5	175306917	175306917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175306917G>C	uc003mde.1	+	5	620	c.274G>C	c.(274-276)GGG>CGG	p.G92R	CPLX2_uc003mdf.1_Missense_Mutation_p.G92R	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	complexin 2	92	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				ovary(1)	1	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGCGAGGGGAGCCTGAC	0.642		NaN											0	0	0	0.001168	0	5	17				
HIGD2A	192286	broad.mit.edu	37	5	175816403	175816403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175816403C>T	uc003meg.2	+	2	263	c.226C>T	c.(226-228)CAG>TAG	p.Q76*	NOP16_uc003med.2_5'Flank|NOP16_uc003mee.2_5'Flank|NOP16_uc011dfl.1_5'Flank|NOP16_uc011dfm.1_5'Flank	NM_138820	NP_620175	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	Extracellular (Potential).|HIG1.					integral to membrane					0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637		NaN											0	0	0	0.01441	0	45	69				
HK3	3101	broad.mit.edu	37	5	176309065	176309065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176309065G>C	uc003mfa.2	-	16	2209	c.2117C>G	c.(2116-2118)TCA>TGA	p.S706*	HK3_uc003mez.2_Nonsense_Mutation_p.S262*	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	706	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCGGCCTGAGTCCCCAGG	0.617		NaN											0	0	0	0.004007	0	16	23				
NSD1	64324	broad.mit.edu	37	5	176562564	176562564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176562564G>C	uc003mfr.3	+	2	598	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.E154Q|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.E154Q|NSD1_uc003mfq.2_Missense_Mutation_p.E154Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	154					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGCACTTTGAGAATTTTAC	0.423		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.010504	0	22	107		Valid		
NSD1	64324	broad.mit.edu	37	5	176721473	176721473	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176721473C>G	uc003mfr.3	+	23	7242	c.7104C>G	c.(7102-7104)GCC>GCG	p.A2368A	NSD1_uc003mft.3_Silent_p.A2099A|NSD1_uc011dfx.1_Silent_p.A2016A	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2368	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGGTGCTGCCAGCCCAAGGC	0.587		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.010729	0	9	56				
GRK6	2870	broad.mit.edu	37	5	176867977	176867977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176867977C>T	uc011dfz.1	+	15	1760	c.1600C>T	c.(1600-1602)CCC>TCC	p.P534S	GRK6_uc003mgq.2_Missense_Mutation_p.P534S|GRK6_uc003mgs.1_Missense_Mutation_p.P504S|uc003mgt.2_Intron	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	534					regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTCAGTTCCCCCAGACCT	0.612		NaN											0	0	0	0.008291	0	11	37				
ZFP2	80108	broad.mit.edu	37	5	178359071	178359071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178359071C>T	uc003mjn.1	+	5	1266	c.757C>T	c.(757-759)CAA>TAA	p.Q253*	ZFP2_uc010jky.2_Nonsense_Mutation_p.Q253*|ZFP2_uc010jkx.1_Nonsense_Mutation_p.Q253*	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	253	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGCCTTCAGTCAAAGCATGCA	0.383		NaN											0	0	0	0.008871	0	18	72				
ADAMTS2	9509	broad.mit.edu	37	5	178554964	178554964	+	Silent	SNP	G	G	A	rs145016043	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178554964G>A	uc003mjw.2	-	17	2613	c.2613C>T	c.(2611-2613)GGC>GGT	p.G871G		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	871	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTCACCTCCGCCACAGGGCT	0.627		NaN											0	0	0	0.00632	0	27	75				
SQSTM1	8878	broad.mit.edu	37	5	179251010	179251010	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179251010A>T	uc003mkw.3	+	3	549	c.454A>T	c.(454-456)AGC>TGC	p.S152C	SQSTM1_uc011dgr.1_Missense_Mutation_p.S68C|SQSTM1_uc011dgs.1_Missense_Mutation_p.S68C|SQSTM1_uc003mkv.3_Missense_Mutation_p.S152C|SQSTM1_uc003mkx.2_Missense_Mutation_p.S68C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	152	ZZ-type.|Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGACTTGTGTAGCGTCTGCGA	0.627		NaN							Paget_Disease_of_Bone				0	0	0	0.007413	0	18	41				
GFPT2	9945	broad.mit.edu	37	5	179763570	179763570	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179763570C>T	uc003mlw.1	-	3	221	c.123G>A	c.(121-123)GCG>GCA	p.A41A		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	41	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCCCATCGATCGCCACACCTG	0.478		NaN											0	0	0	0.01441	0	166	125				
OR2V2	285659	broad.mit.edu	37	5	180582627	180582627	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:180582627A>G	uc011dhj.1	+	1	685	c.685A>G	c.(685-687)ATG>GTG	p.M229V		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGCTGCAAATGCACTCTGC	0.527		NaN											0	0	0	0.012213	0	34	158				
RIOK1	83732	broad.mit.edu	37	6	7398940	7398940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7398940C>G	uc003mxn.2	+	5	621	c.447C>G	c.(445-447)ATC>ATG	p.I149M	RIOK1_uc003mxm.1_Missense_Mutation_p.I45M	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	149							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					GGTATCGCATCAAAGATAAGG	0.313		NaN											0	0	0	0.00278	0	22	30				
DSP	1832	broad.mit.edu	37	6	7583091	7583091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7583091C>T	uc003mxp.1	+	24	5875	c.5596C>T	c.(5596-5598)CAG>TAG	p.Q1866*	DSP_uc003mxq.1_Nonsense_Mutation_p.Q1267*	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1866	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCTGAATCAGTGGAAGAC	0.453		NaN											0	0	0	0.012319	0	22	37				
SYCP2L	221711	broad.mit.edu	37	6	10907799	10907799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:10907799C>G	uc003mzo.2	+	10	997	c.701C>G	c.(700-702)TCT>TGT	p.S234C	SYCP2L_uc011din.1_Missense_Mutation_p.S75C|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	234						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTTGCTATTTCTGAAGCGCTG	0.348		NaN											0	0	0	0.00623	0	38	45				
HIVEP1	3096	broad.mit.edu	37	6	12123091	12123091	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:12123091C>T	uc003nac.2	+	4	3242	c.3063C>T	c.(3061-3063)ATC>ATT	p.I1021I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1021					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTCCGGCATCTGGGAACAGA	0.488		NaN											0	0	0	0.00874	0	35	894				
KIF13A	63971	broad.mit.edu	37	6	17804706	17804706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:17804706G>A	uc003ncg.3	-	20	2445	c.2340C>T	c.(2338-2340)TTC>TTT	p.F780F	KIF13A_uc003ncf.2_Silent_p.F780F|KIF13A_uc003nch.3_Silent_p.F780F|KIF13A_uc003nci.3_Silent_p.F780F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	780					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGCTTCATAGAAAGGGTCAC	0.423		NaN											0	0	0	0.012319	0	21	6				
CDKAL1	54901	broad.mit.edu	37	6	21065357	21065357	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21065357G>A	uc003ndc.1	+	12	1308	c.1134G>A	c.(1132-1134)GTG>GTA	p.V378V	CDKAL1_uc003ndd.1_Silent_p.V378V|CDKAL1_uc003nde.1_Silent_p.V308V|CDKAL1_uc003ndf.1_5'UTR	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	378					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAGAAACAGTGAAACTTGTTG	0.368		NaN											0	0	0	0.014323	0	22	504				
CDKAL1	54901	broad.mit.edu	37	6	21231097	21231097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21231097G>A	uc003ndc.1	+	16	1741	c.1567G>A	c.(1567-1569)GGG>AGG	p.G523R	CDKAL1_uc003ndd.1_Missense_Mutation_p.G523R|CDKAL1_uc003nde.1_Missense_Mutation_p.G432R|CDKAL1_uc003ndf.1_Missense_Mutation_p.G36R|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	523					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAATGGGCTTGGGAACCAGCT	0.463		NaN											0	0	0	0.010504	0	20	327				
HIST1H3C	8352	broad.mit.edu	37	6	26045930	26045930	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26045930G>A	uc003nfv.2	+	1	292	c.292G>A	c.(292-294)GAG>AAG	p.E98K	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GGAGGCTTGTGAGGCCTACCT	0.577		NaN											0	0	0	0.00245	0	15	27				
HIST1H2BD	3017	broad.mit.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158404G>A	uc003ngr.2	+	1	56	c.7G>A	c.(7-9)GAA>AAA	p.E3K	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E3K	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						TACGATGCCTGAACCTACCAA	0.507		NaN											0	0	0	0.003163	0	15	51				
HIST1H2BD	3017	broad.mit.edu	37	6	26158626	26158626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158626G>A	uc003ngr.2	+	1	278	c.229G>A	c.(229-231)GAG>AAG	p.E77K	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E77K	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	77					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						CATCGCAGGCGAGGCTTCCCG	0.612		NaN											0	0	0	0.01441	0	45	94				
HIST1H2BE	8344	broad.mit.edu	37	6	26184336	26184336	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26184336G>C	uc003ngt.2	+	1	313	c.313G>C	c.(313-315)GGG>CGG	p.G105R		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	105					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						GCTGCTTCCCGGGGAGCTGGC	0.617		NaN											0	0	0	0.006122	0	18	52				
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26217568G>A	uc003nha.1	+	1	421	c.366G>A	c.(364-366)GAG>GAA	p.E122E	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542		NaN											0	0	0	0.010729	0	8	21				
BTN3A2	11118	broad.mit.edu	37	6	26368410	26368410	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26368410G>C	uc010jqh.1	+	3	260	c.1_splice	c.e3-1	p.M1_splice	BTN3A2_uc003nho.1_5'UTR|BTN3A2_uc003nhp.2_5'UTR|BTN3A2_uc011dkd.1_Intron|BTN3A2_uc011dke.1_Intron|BTN3A2_uc010jqi.1_5'UTR	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor							integral to membrane					0						ATGCAGCATAGATGAAAATGG	0.493		NaN											0	0	0	0.011902	0	36	57				
HIST1H1B	3009	broad.mit.edu	37	6	27834692	27834692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:27834692C>T	uc003njx.2	-	1	668	c.616G>A	c.(616-618)GCT>ACT	p.A206T		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	206					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TTGGGCTTAGCGGCTTTGGGC	0.552		NaN											0	0	0	0.010729	0	10	44				
ZNF192	7745	broad.mit.edu	37	6	28120950	28120950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:28120950G>C	uc003nkn.1	+	6	1076	c.892G>C	c.(892-894)GAG>CAG	p.E298Q	ZNF192_uc010jqx.1_Missense_Mutation_p.E298Q|ZNF192_uc010jqy.1_Missense_Mutation_p.E111Q|ZNF192_uc011dkz.1_Missense_Mutation_p.E111Q	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	298	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAGGGGTCTTGAGCATGAAGA	0.478		NaN											0	0	0	0.00499	0	18	52				
PPP1R10	5514	broad.mit.edu	37	6	30574287	30574287	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30574287G>C	uc003nqn.1	-	8	1144	c.592C>G	c.(592-594)CTT>GTT	p.L198V	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	198	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GTGGTGCGAAGAGACTTGGGC	0.577		NaN											0	0	0	0.007413	0	16	72				
C6orf136	221545	broad.mit.edu	37	6	30617717	30617717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30617717A>G	uc003nqw.3	+	2	648	c.455A>G	c.(454-456)TAT>TGT	p.Y152C	C6orf136_uc003nqx.3_Missense_Mutation_p.Y333C|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	152											0						TCTGTCATGTATGAGAGACTG	0.527		NaN											0	0	0	0.010504	0	20	53				
BAT5	7920	broad.mit.edu	37	6	31670992	31670992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31670992C>T	uc003nvy.1	-	1	97	c.67G>A	c.(67-69)GAA>AAA	p.E23K	BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	23						integral to membrane	hydrolase activity|protein binding				0						GGGGCCCTTTCAGAGTCCCTC	0.657		NaN											0	0	0	0.00333	0	18	28				
DOM3Z	1797	broad.mit.edu	37	6	31938901	31938901	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31938901G>T	uc003nyo.1	-	2	914	c.380C>A	c.(379-381)GCC>GAC	p.A127D	DOM3Z_uc003nyp.1_Missense_Mutation_p.A127D|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.A127D|DOM3Z_uc003nys.1_Missense_Mutation_p.A127D|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	127							identical protein binding|metal ion binding|nucleotide binding				0						CGTCACTATGGCCTCTGCCAG	0.587		NaN											1	0	1.75199e-13	0.007291	1.83485e-13	17	21				
TNXB	7148	broad.mit.edu	37	6	32024681	32024681	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32024681C>T	uc003nzl.2	-	23	8028	c.7826_splice	c.e23-1	p.E2609_splice		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCTTCATCCTCTGGAGTTGGA	0.582		NaN											0	0	0	0.00499	0	14	41				
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32157485C>T	uc003oav.1	-	1	479	c.208G>A	c.(208-210)GAG>AAG	p.E70K	PBX2_uc003oaw.2_Missense_Mutation_p.E70K	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			ovary(1)	1						GCCTGGGCCTCGTCCAGGCTC	0.647		NaN											0	0	0	0.003163	0	15	34				
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32977305G>A	uc003ocr.2	-	1	85	c.9C>T	c.(7-9)CTC>CTT	p.L3L	HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	3					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GCCCTGCTCTGAGGGCCATTA	0.587		NaN											0	0	0	0.009096	0	4	19				
B3GALT4	8705	broad.mit.edu	37	6	33245448	33245448	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33245448G>C	uc003odr.2	+	1	532	c.252G>C	c.(250-252)CTG>CTC	p.L84L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	84	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CGGAGAACCTGAACCAGAGAA	0.667		NaN											0	0	0	0.004289	0	36	82				
WDR46	9277	broad.mit.edu	37	6	33247078	33247078	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33247078G>C	uc003ods.2	-	15	1852	c.1808C>G	c.(1807-1809)TCT>TGT	p.S603C	WDR46_uc011dra.1_Missense_Mutation_p.S549C	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	603											0						GTCCAGGGCAGATGGCCGGGC	0.612		NaN											0	0	0	0.010818	0	29	137				
UHRF1BP1	54887	broad.mit.edu	37	6	34831871	34831871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:34831871C>T	uc003oju.3	+	15	3542	c.3308C>T	c.(3307-3309)TCT>TTT	p.S1103F	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_Intron	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1103										ovary(3)	3						AGGACGGTATCTCAACAGTCA	0.522		NaN											0	0	0	0.008871	0	16	49				
C6orf222	389384	broad.mit.edu	37	6	36291244	36291244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36291244G>C	uc003oly.2	-	8	1475	c.1297C>G	c.(1297-1299)CAA>GAA	p.Q433E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	433										skin(2)|ovary(1)|breast(1)	4						CTTTTTTCTTGAGATTTCCTT	0.562		NaN											0	0	0	0.01441	0	52	171				
KCTD20	222658	broad.mit.edu	37	6	36452534	36452534	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36452534G>A	uc003ome.2	+	7	1291	c.900G>A	c.(898-900)GAG>GAA	p.E300E	KCTD20_uc011dtm.1_Silent_p.E155E|KCTD20_uc011dtn.1_Silent_p.E54E|KCTD20_uc010jwk.2_Silent_p.E134E|KCTD20_uc011dto.1_Silent_p.E54E	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	300						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						AATATATTGAGAATAGGGATG	0.343		NaN											0	0	0	0.01441	0	125	109				
CDKN1A	1026	broad.mit.edu	37	6	36652272	36652272	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36652272G>T	uc003omm.3	+	2	516	c.394G>T	c.(394-396)GGT>TGT	p.G132C	CDKN1A_uc011dtq.1_Missense_Mutation_p.G166C|CDKN1A_uc003oml.2_Missense_Mutation_p.G132C|CDKN1A_uc003omn.2_Missense_Mutation_p.G132C	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	132					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						AGGGTCCCCAGGTGGACCTGG	0.592		NaN							Multiple_Endocrine_Neoplasia_type_1				1	0	9.05144e-12	0.001855	9.45218e-12	12	27		Valid		
FTSJD2	23070	broad.mit.edu	37	6	37419600	37419600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:37419600G>C	uc003ons.2	+	6	809	c.556G>C	c.(556-558)GAT>CAT	p.D186H	FTSJD2_uc010jwu.2_Missense_Mutation_p.D186H	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	186					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GATTATTGAAGATGAAACAGA	0.423		NaN											0	0	0	0.00278	0	22	62				
DAAM2	23500	broad.mit.edu	37	6	39865036	39865036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39865036C>G	uc003oow.2	+	21	2752	c.2596C>G	c.(2596-2598)CTT>GTT	p.L866V	DAAM2_uc003oox.2_Missense_Mutation_p.L866V	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	866	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTGCAACATCTTCCAGAAGC	0.448		NaN											0	0	0	0.003755	0	34	80				
MOCS1	4337	broad.mit.edu	37	6	39895072	39895072	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39895072G>A	uc003opb.2	-	1	384	c.246C>T	c.(244-246)CTC>CTT	p.L82L	MOCS1_uc003opa.2_Silent_p.L82L|MOCS1_uc003opc.2_Silent_p.L82L|MOCS1_uc003opd.2_Silent_p.L82L|MOCS1_uc003ope.2_Intron	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	82	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTCACATCTGAGGTTGCACT	0.602		NaN											0	0	0	0.00308	0	8	74				
TREML1	340205	broad.mit.edu	37	6	41121535	41121535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41121535G>A	uc011duc.1	-	2	381	c.337C>T	c.(337-339)CAG>TAG	p.Q113*	TREML1_uc003opx.2_Nonsense_Mutation_p.Q113*|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	113	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAAAATCTGGGGCCCCCTG	0.607		NaN											0	0	0	0.01441	0	102	37				
TREM2	54209	broad.mit.edu	37	6	41129313	41129313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41129313C>T	uc003opy.2	-	2	181	c.79G>A	c.(79-81)GTG>ATG	p.V27M	TREM2_uc003opz.2_Missense_Mutation_p.V57M|TREM2_uc010jxl.1_Missense_Mutation_p.V57M	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	27	Extracellular (Potential).				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCCGCCACGCCCTGGAAC	0.493		NaN											0	0	0	0.010729	0	5	51				
UBR2	23304	broad.mit.edu	37	6	42532121	42532121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42532121G>T	uc011dur.1	+	1	64	c.64G>T	c.(64-66)GAG>TAG	p.E22*	UBR2_uc003osf.2_Nonsense_Mutation_p.E22*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	22					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGTTCGGCCGAGGAGATTGC	0.697		NaN											1	0	2.17888e-05	0.006214	2.22502e-05	9	7				
TBCC	6903	broad.mit.edu	37	6	42713401	42713401	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42713401G>A	uc003osl.2	-	1	484	c.411C>T	c.(409-411)TTC>TTT	p.F137F		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	137					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TCTTGAAAGCGAAACGCTTCT	0.662		NaN											0	0	0	0.001984	0	6	41				
MEA1	4201	broad.mit.edu	37	6	42981053	42981053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42981053C>T	uc003otk.2	-	2	170	c.103G>A	c.(103-105)GAG>AAG	p.E35K	MEA1_uc010jyc.1_Missense_Mutation_p.E22K|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank	NM_014623	NP_055438	Q16626	MEA1_HUMAN	male-enhanced antigen	35					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|skin(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGTTCCTCAGTCTGATTG	0.522		NaN											0	0	0	0.008361	0	28	157				
CUL9	23113	broad.mit.edu	37	6	43181188	43181188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43181188G>C	uc003ouk.2	+	28	5446	c.5371G>C	c.(5371-5373)GAG>CAG	p.E1791Q	CUL9_uc003oul.2_Missense_Mutation_p.E1791Q|CUL9_uc010jyk.2_Missense_Mutation_p.E943Q|CUL9_uc003oun.2_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1791					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGTGTCAGTAGAGACCTTGCT	0.557		NaN											0	0	0	0.001855	0	13	96				
CUL9	23113	broad.mit.edu	37	6	43190340	43190340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43190340C>T	uc003ouk.2	+	37	7068	c.6993C>T	c.(6991-6993)TTC>TTT	p.F2331F	CUL9_uc003oul.2_Silent_p.F2303F|CUL9_uc010jyk.2_Silent_p.F1483F|CUL9_uc003oun.2_Silent_p.F126F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2331					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCTTCACCTTCCTCAATGATG	0.607		NaN											0	0	0	0.00632	0	27	39				
ZNF318	24149	broad.mit.edu	37	6	43323779	43323779	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43323779C>T	uc003oux.2	-	4	1371	c.1293G>A	c.(1291-1293)GAG>GAA	p.E431E	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	431					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTTTTCAATCTCTGAGGCAA	0.522		NaN											0	0	0	0.01441	0	72	84				
C6orf154	221424	broad.mit.edu	37	6	43475602	43475602	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43475602C>T	uc003ovk.1	-	4	1520	c.619G>A	c.(619-621)GAC>AAC	p.D207N	C6orf154_uc003ovj.1_Missense_Mutation_p.D16N	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	207	LRR 6.										0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCCTCCAAGTCTAGGACCTCT	0.562		NaN											0	0	0	0.001984	0	7	36				
GPR110	266977	broad.mit.edu	37	6	46977464	46977464	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:46977464G>A	uc003oyt.2	-	11	1906	c.1707C>T	c.(1705-1707)TTC>TTT	p.F569F	GPR110_uc011dwl.1_Silent_p.F257F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	569	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TCAATATGGAGAAGGAGGTCA	0.358		NaN											0	0	0	0.00499	0	16	67				
CRISP3	10321	broad.mit.edu	37	6	49700942	49700942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49700942G>C	uc003ozs.2	-	6	502	c.487C>G	c.(487-489)CTA>GTA	p.L163V		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	163					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGTATTTTAGAACTTTTTGA	0.303		NaN											0	0	0	0.00623	0	40	161				
PGK2	5232	broad.mit.edu	37	6	49753659	49753659	+	Silent	SNP	G	G	A	rs142237772	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49753659G>A	uc003ozu.2	-	1	1349	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	414					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					ACATGTTGCTGAGGGCCTCTA	0.433		NaN											0	0	0	0.006999	0	38	60				
PKHD1	5314	broad.mit.edu	37	6	51612670	51612670	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:51612670G>A	uc003pah.1	-	58	10020	c.9744C>T	c.(9742-9744)TTC>TTT	p.F3248F	PKHD1_uc010jzn.1_Silent_p.F1231F|PKHD1_uc003pai.2_Silent_p.F3248F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3248	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTTCTGAGGTGAATACAGGCC	0.448		NaN											0	0	0	0.01441	0	53	97				
IL17F	112744	broad.mit.edu	37	6	52103570	52103570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52103570G>C	uc003pam.1	-	2	283	c.212C>G	c.(211-213)TCA>TGA	p.S71*	IL17F_uc003pal.1_Nonsense_Mutation_p.S17*	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	71					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)					GATGTTACGTGACATGGAAAC	0.438		NaN											0	0	0	0.010729	0	11	48				
MCM3	4172	broad.mit.edu	37	6	52129560	52129560	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52129560G>C	uc003pan.1	-	17	2363	c.2253C>G	c.(2251-2253)CTC>CTG	p.L751L	MCM3_uc011dwu.1_Silent_p.L705L	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	751					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					ACACATCCAAGAGGGCCACCT	0.507		NaN											0	0	0	0.01441	0	56	91				
GSTA5	221357	broad.mit.edu	37	6	52701150	52701150	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52701150G>A	uc003pba.1	-	4	226	c.156C>T	c.(154-156)TTC>TTT	p.F52F		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	52	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	GTACTTGCTGGAACAGCAAAC	0.403		NaN											0	0	0	0.008361	0	30	149				
LRRC1	55227	broad.mit.edu	37	6	53660187	53660187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:53660187G>C	uc003pcd.1	+	1	410	c.133G>C	c.(133-135)GCC>CCC	p.A45P		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	45	LRR 2.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCTGCTGGACGCCAACCAGCT	0.667		NaN											0	0	0	0.004007	0	12	13				
BMP5	653	broad.mit.edu	37	6	55739327	55739327	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:55739327T>C	uc003pcq.2	-	1	1049	c.337A>G	c.(337-339)AGA>GGA	p.R113G	BMP5_uc011dxf.1_Missense_Mutation_p.R113G	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	113					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATCCCTTTCTTGCCCCTCTG	0.522		NaN											0	0	0	0.012319	0	21	92				
RAB23	51715	broad.mit.edu	37	6	57075078	57075078	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57075078A>C	uc003pds.2	-	2	307	c.101T>G	c.(100-102)TTT>TGT	p.F34C	RAB23_uc003pdt.2_Missense_Mutation_p.F34C|RAB23_uc010kac.2_Missense_Mutation_p.F34C|RAB23_uc010kad.2_RNA	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Ras-related protein Rab-23	34					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			skin(1)	1	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCTTTTGTAAAAATGCCTTT	0.373		NaN											0	0	0	0.006999	0	42	137				
PRIM2	5558	broad.mit.edu	37	6	57183276	57183276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57183276G>A	uc003pdx.2	+	2	120	c.33G>A	c.(31-33)CTG>CTA	p.L11L	PRIM2_uc003pdv.1_Silent_p.L11L|PRIM2_uc003pdw.2_Silent_p.L11L	NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	11					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAGGAAGCTGAGGTTGGCAG	0.403		NaN											0	0	0	0.006214	0	9	16				
COL19A1	1310	broad.mit.edu	37	6	70875842	70875842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70875842G>A	uc003pfc.1	+	37	2527	c.2410G>A	c.(2410-2412)GGA>AGA	p.G804R	COL19A1_uc010kam.1_Missense_Mutation_p.G700R	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	804	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GGGCAGCGACGGACCCCCTGG	0.443		NaN											0	0	0	0.007291	0	28	171				
COL9A1	1297	broad.mit.edu	37	6	70966509	70966509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70966509C>T	uc003pfg.3	-	21	1624	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N	COL9A1_uc003pfe.3_Missense_Mutation_p.D62N|COL9A1_uc003pff.3_Missense_Mutation_p.D246N	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	489	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						GGTTCACCATCTAAGCCCCGA	0.383		NaN											0	0	0	0.009096	0	3	33				
RIMS1	22999	broad.mit.edu	37	6	72892790	72892790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72892790C>T	uc003pga.2	+	6	1693	c.1616C>T	c.(1615-1617)TCG>TTG	p.S539L	RIMS1_uc011dyb.1_Missense_Mutation_p.S165L|RIMS1_uc003pgc.2_Missense_Mutation_p.S165L|RIMS1_uc003pgb.3_Missense_Mutation_p.S165L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	539					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGGCGTGTCGACGCCCGAG	0.692		NaN											0	0	0	0.004672	0	3	3				
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72968754G>A	uc003pga.2	+	18	3070	c.2993G>A	c.(2992-2994)CGA>CAA	p.R998Q	RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353		NaN											0	0	0	0.01441	0	53	73				
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73843259G>A	uc003pgk.2	+	10	1710	c.1363G>A	c.(1363-1365)GAG>AAG	p.E455K	KCNQ5_uc011dyh.1_Missense_Mutation_p.E474K|KCNQ5_uc011dyi.1_Missense_Mutation_p.E465K|KCNQ5_uc010kat.2_Missense_Mutation_p.E446K|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.E205K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	455					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATCACAGCCGAGGGCAGTCC	0.592		NaN											0	0	0	0.014323	0	22	68				
KCNQ5	56479	broad.mit.edu	37	6	73904551	73904551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73904551C>T	uc003pgk.2	+	14	2560	c.2213C>T	c.(2212-2214)ACG>ATG	p.T738M	KCNQ5_uc011dyh.1_Missense_Mutation_p.T757M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T748M|KCNQ5_uc010kat.2_Missense_Mutation_p.T729M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T628M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T488M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	738					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAAATAAATACGGCACCCAAG	0.532		NaN											0	0	0	0.014323	0	20	22				
C6orf150	115004	broad.mit.edu	37	6	74150017	74150017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74150017C>T	uc003pgx.1	-	3	1168	c.1029G>A	c.(1027-1029)TGG>TGA	p.W343*		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	343											0						TTGCTGAAAGCCAGTTTTGAA	0.393		NaN											0	0	0	0.01441	0	49	93				
CD109	135228	broad.mit.edu	37	6	74440088	74440088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74440088G>A	uc003php.2	+	4	723	c.298G>A	c.(298-300)GAG>AAG	p.E100K	CD109_uc010kaz.2_Missense_Mutation_p.E100K|CD109_uc003phq.2_Missense_Mutation_p.E100K|CD109_uc010kba.2_Intron	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	100						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						CAGTGCAGATGAGATTTATGA	0.373		NaN											0	0	0	0.008361	0	30	135				
SENP6	26054	broad.mit.edu	37	6	76425252	76425252	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76425252C>G	uc003pid.3	+	24	3900	c.3281C>G	c.(3280-3282)TCA>TGA	p.S1094*	SENP6_uc003pie.3_Nonsense_Mutation_p.S1087*|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	1094	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GACACTTACTCAACAGAAGCA	0.363		NaN											0	0	0	0.01441	0	57	80				
IMPG1	3617	broad.mit.edu	37	6	76657219	76657219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76657219C>T	uc003pik.1	-	14	1986	c.1856G>A	c.(1855-1857)GGA>GAA	p.G619E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	619	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCTTAAATCCTGTAAGATT	0.393		NaN											0	0	0	0.008291	0	10	22				
LCA5	167691	broad.mit.edu	37	6	80228490	80228490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:80228490G>A	uc003pix.2	-	2	557	c.122C>T	c.(121-123)TCT>TTT	p.S41F	LCA5_uc003piy.2_Missense_Mutation_p.S41F|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.S41F	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	41					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGCAGGTGAAGAACTGACCAG	0.423		NaN											0	0	0	0.01441	0	108	200				
CYB5R4	51167	broad.mit.edu	37	6	84618805	84618805	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84618805G>A	uc003pkf.2	+	4	540	c.408G>A	c.(406-408)CTG>CTA	p.L136L		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	136					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGCTGTTCTGAAAGGTAAGT	0.393		NaN											0	0	0	0.006214	0	10	54				
KIAA1009	22832	broad.mit.edu	37	6	84862559	84862559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84862559G>A	uc010kbp.2	-	23	3431	c.3334C>T	c.(3334-3336)CAG>TAG	p.Q1112*	KIAA1009_uc003pkj.3_Nonsense_Mutation_p.Q1036*|KIAA1009_uc003pki.3_Nonsense_Mutation_p.Q498*	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1112	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTGTCTTTCTGAAGCCTCTCC	0.403		NaN											0	0	0	0.005443	0	28	52				
GABRR1	2569	broad.mit.edu	37	6	89888585	89888585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:89888585C>G	uc003pna.2	-	10	1799	c.1344G>C	c.(1342-1344)ATG>ATC	p.M448I	GABRR1_uc011dzv.1_Missense_Mutation_p.M425I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	448	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGTCGATTCTCATGCTCACAT	0.463		NaN											0	0	0	0.01441	0	44	173				
MAP3K7	6885	broad.mit.edu	37	6	91257893	91257893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:91257893G>A	uc003pnz.1	-	10	1115	c.953C>T	c.(952-954)TCA>TTA	p.S318L	MAP3K7_uc003poa.1_Missense_Mutation_p.S318L|MAP3K7_uc003pob.1_Missense_Mutation_p.S318L|MAP3K7_uc003poc.1_Missense_Mutation_p.S318L	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	318					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTCCATGAATGAGCCTAGGAA	0.343		NaN											0	0	0	0.006999	0	40	64				
KLHL32	114792	broad.mit.edu	37	6	97587083	97587083	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97587083C>T	uc010kcm.1	+	11	2260	c.1788C>T	c.(1786-1788)TTC>TTT	p.F596F	KLHL32_uc011ead.1_Silent_p.F560F|KLHL32_uc003poz.2_Silent_p.F152F|KLHL32_uc011eae.1_Silent_p.F527F|KLHL32_uc003ppa.2_RNA	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	596	Kelch 6.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGCATGCTTCCTTCCAGCTC	0.448		NaN											0	0	0	0.004878	0	38	153				
C6orf167	253714	broad.mit.edu	37	6	97626329	97626329	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97626329C>G	uc003ppb.2	-	18	2935	c.2669G>C	c.(2668-2670)CGA>CCA	p.R890P	C6orf167_uc011eaf.1_Missense_Mutation_p.R850P	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	890					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTCAAAGAATCGAACAAGTGC	0.274		NaN											0	0	0	0.00499	0	16	117				
CCNC	892	broad.mit.edu	37	6	99994315	99994315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:99994315C>G	uc003pqe.2	-	10	921	c.634G>C	c.(634-636)GAT>CAT	p.D212H	uc003pqc.2_Intron|CCNC_uc003pqd.2_Missense_Mutation_p.D127H|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.D211H|CCNC_uc011eah.1_Missense_Mutation_p.D127H	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	212					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TGCCTGGCATCTTTCTGCTGT	0.358		NaN											0	0	0	0.008871	0	17	102				
ATG5	9474	broad.mit.edu	37	6	106649864	106649864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:106649864G>A	uc003prf.2	-	7	1027	c.674C>T	c.(673-675)TCT>TTT	p.S225F	ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.S147F|ATG5_uc010kdc.2_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	225					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATCAATAGCAGAAGGACAAAC	0.378		NaN											0	0	0	0.01441	0	53	58				
SESN1	27244	broad.mit.edu	37	6	109415101	109415101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109415101G>A	uc003psu.2	-	1	187	c.176C>T	c.(175-177)TCG>TTG	p.S59L	C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	Error:Variant_position_missing_in_Q9Y6P5_after_alignment					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAACCCATCCGAAGACTCGGT	0.423		NaN											0	0	0	0.01441	0	74	110				
CD164	8763	broad.mit.edu	37	6	109700850	109700850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109700850C>T	uc003pte.2	-	2	372	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	CD164_uc003ptd.2_Missense_Mutation_p.R64Q|CD164_uc003ptf.2_Missense_Mutation_p.R64Q|CD164_uc011eap.1_Missense_Mutation_p.R64Q|CD164_uc010kdn.2_Missense_Mutation_p.R64Q	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	64	Extracellular (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GCAGCTGTTTCGACCTTCACA	0.358		NaN											0	0	0	0.01441	0	67	65				
FAM26D	221301	broad.mit.edu	37	6	116879249	116879249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:116879249G>A	uc003pxa.2	+	4	690	c.391G>A	c.(391-393)GAT>AAT	p.D131N	FAM26D_uc003pwz.2_Missense_Mutation_p.D88N|FAM26D_uc010ked.2_Missense_Mutation_p.D130N	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	hypothetical protein LOC221301	274						integral to membrane					0		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGACTGGAAAGATATTTCAGT	0.453		NaN											0	0	0	0.01441	0	54	101				
FAM162B	221303	broad.mit.edu	37	6	117086385	117086385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117086385G>A	uc003pxi.2	-	2	353	c.206C>T	c.(205-207)CCT>CTT	p.P69L		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	69						integral to membrane					0						GAACTGCGAAGGCCTGCGCTG	0.627		NaN											0	0	0	0.00499	0	16	25				
GPRC6A	222545	broad.mit.edu	37	6	117127788	117127788	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117127788A>C	uc003pxj.1	-	3	1102	c.1080T>G	c.(1078-1080)CAT>CAG	p.H360Q	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.H360Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	360	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGCAGATAAATGCATGGCAT	0.398		NaN											0	0	0	0.003954	0	26	101				
MAN1A1	4121	broad.mit.edu	37	6	119669855	119669855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:119669855C>T	uc003pym.1	-	2	818	c.376G>A	c.(376-378)GAA>AAA	p.E126K	MAN1A1_uc010kei.1_Missense_Mutation_p.E126K	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	126	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCGTGGTTTTCGCGGATCCTG	0.507		NaN											0	0	0	0.00333	0	24	41				
NCOA7	135112	broad.mit.edu	37	6	126203598	126203598	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:126203598G>A	uc010kes.2	+	9	1049	c.600G>A	c.(598-600)TTG>TTA	p.L200L	NCOA7_uc003qae.3_Silent_p.L200L|NCOA7_uc003qah.2_Silent_p.L200L|NCOA7_uc003qai.2_Silent_p.L200L|NCOA7_uc010ket.2_Silent_p.L96L|NCOA7_uc003qaf.2_Silent_p.L200L|NCOA7_uc003qag.2_Silent_p.L200L	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	200					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAAGGCCTTGAAACCCATTG	0.358		NaN											0	0	0	0.006122	0	18	38				
LAMA2	3908	broad.mit.edu	37	6	129796544	129796544	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129796544A>C	uc003qbn.2	+	52	7554	c.7449A>C	c.(7447-7449)GCA>GCC	p.A2483A	LAMA2_uc003qbo.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2483	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTATGAAAGCAAGGTAAAATT	0.318		NaN											0	0	0	0.008291	0	10	33				
L3MBTL3	84456	broad.mit.edu	37	6	130376350	130376350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:130376350C>T	uc003qbt.2	+	8	787	c.617C>T	c.(616-618)TCG>TTG	p.S206L	L3MBTL3_uc003qbu.2_Missense_Mutation_p.S181L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	206					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGAGGGGTTCGCAGAGAGCA	0.383		NaN											0	0	0	0.006214	0	7	64				
BCLAF1	9774	broad.mit.edu	37	6	136596991	136596991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:136596991C>T	uc003qgx.1	-	5	1925	c.1672G>A	c.(1672-1674)GAT>AAT	p.D558N	BCLAF1_uc003qgw.1_Missense_Mutation_p.D385N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D556N|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D556N	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	558					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGTTAGAATCATCAAGAGGA	0.383		NaN											0	0	0	0.01441	0	71	169				
MAP3K5	4217	broad.mit.edu	37	6	137017141	137017141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:137017141C>G	uc003qhc.2	-	6	1391	c.1030G>C	c.(1030-1032)GAT>CAT	p.D344H	MAP3K5_uc011edk.1_Missense_Mutation_p.D189H|MAP3K5_uc010kgw.1_Missense_Mutation_p.D344H	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	344					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGCCAAATCAAAGGTTGGC	0.358		NaN											0	0	0	0.007835	0	37	65				
CCDC28A	25901	broad.mit.edu	37	6	139094917	139094917	+	Missense_Mutation	SNP	G	G	A	rs34991012	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094917G>A	uc003qie.2	+	1	261	c.106G>A	c.(106-108)GAG>AAG	p.E36K	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	36											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TAAACAAACGGAGCTGCGGAG	0.657		NaN											0	0	0	0.003271	0	29	138				
CCDC28A	25901	broad.mit.edu	37	6	139094928	139094928	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094928G>A	uc003qie.2	+	1	272	c.117G>A	c.(115-117)AGG>AGA	p.R39R	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	39											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGCTGCGGAGGAGCGGGTCCC	0.647		NaN											0	0	0	0.009535	0	23	131				
CITED2	10370	broad.mit.edu	37	6	139694349	139694349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139694349C>T	uc003qip.1	-	2	977	c.733G>A	c.(733-735)GAA>AAA	p.E245K		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	245	Asp/Glu-rich (acidic).			Missing: Inhibits transactivation activity.	adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		AGCCAGAGTTCGGGCAGCTCC	0.512		NaN											0	0	0	0.003755	0	36	121				
UTRN	7402	broad.mit.edu	37	6	144759888	144759888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144759888G>A	uc003qkt.2	+	11	1341	c.1249G>A	c.(1249-1251)GAT>AAT	p.D417N	UTRN_uc010khq.1_Missense_Mutation_p.D417N	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	417	Interaction with SYNM.|Spectrin 2.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCTGCACGATGTGCTGAT	0.517		NaN											0	0	0	0.009535	0	30	79				
UTRN	7402	broad.mit.edu	37	6	144820495	144820495	+	Missense_Mutation	SNP	G	G	A	rs142782123		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144820495G>A	uc003qkt.2	+	33	4788	c.4696G>A	c.(4696-4698)GAA>AAA	p.E1566K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1566	Interaction with SYNM.|Spectrin 11.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACTGAAACTGAATTGGTACA	0.448		NaN											0	0	0	0.003954	0	26	41				
UTRN	7402	broad.mit.edu	37	6	145160371	145160371	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:145160371G>A	uc003qkt.2	+	71	10220	c.10128G>A	c.(10126-10128)CTG>CTA	p.L3376L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3376					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTCTGCACTGAGCTACTCGC	0.537		NaN											0	0	0	0.008361	0	28	60				
SASH1	23328	broad.mit.edu	37	6	148855934	148855934	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:148855934C>G	uc003qme.1	+	16	2467	c.1992C>G	c.(1990-1992)ACC>ACG	p.T664T	SASH1_uc011eeb.1_Silent_p.T425T|SASH1_uc003qmf.1_Silent_p.T74T	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	664	SAM 1.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATTTGGACACCTTTAAGCTGC	0.488		NaN											0	0	0	0.01441	0	71	86				
TAB2	23118	broad.mit.edu	37	6	149700055	149700055	+	Missense_Mutation	SNP	G	G	C	rs1053435		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:149700055G>C	uc003qmj.2	+	3	1182	c.1004G>C	c.(1003-1005)AGA>ACA	p.R335T	TAB2_uc011eec.1_Missense_Mutation_p.R303T|TAB2_uc010kia.1_Missense_Mutation_p.R335T|TAB2_uc010kib.1_Missense_Mutation_p.R335T|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	335					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CCCCCACAAAGAAATAATTCT	0.418		NaN											0	0	0	0.012213	0	31	48				
RMND1	55005	broad.mit.edu	37	6	151754317	151754318	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:151754317_151754318CC>AA	uc003qoi.2	-	4	841_842	c.661_662GG>TT	c.(661-663)GGT>TTT	p.G221F	RMND1_uc011eeq.1_Missense_Mutation_p.G10F	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	221											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TCCAGGATCACCTTCTTTTGCA	0.381		NaN											0	0	0	0.004672	0	13	58				
SYNE1	23345	broad.mit.edu	37	6	152831425	152831425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:152831425C>T	uc010kiw.2	-	8	1086	c.484G>A	c.(484-486)GAG>AAG	p.E162K	SYNE1_uc003qot.3_Missense_Mutation_p.E169K|SYNE1_uc003qou.3_Missense_Mutation_p.E162K|SYNE1_uc010kjb.1_Missense_Mutation_p.E162K|SYNE1_uc003qpa.1_Missense_Mutation_p.E162K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	162	Actin-binding.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGGAGTCTCAGAGCTAACT	0.498		NaN								HNSCC(10;0.0054)			0	0	0	0.01441	0	63	84				
RBM16	22828	broad.mit.edu	37	6	155129288	155129288	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155129288C>T	uc003qqa.2	+	11	1298	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	RBM16_uc011efj.1_Missense_Mutation_p.L422F|RBM16_uc011efk.1_Missense_Mutation_p.L401F|RBM16_uc003qpz.2_Missense_Mutation_p.L356F|RBM16_uc010kji.2_Missense_Mutation_p.L377F	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	356	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		GCAGCATTTTCTTGAACCTGA	0.388		NaN											0	0	0	0.003954	0	25	98				
RBM16	22828	broad.mit.edu	37	6	155143463	155143463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155143463C>T	uc003qqa.2	+	17	2078	c.1846C>T	c.(1846-1848)CAG>TAG	p.Q616*	RBM16_uc011efj.1_Nonsense_Mutation_p.Q682*|RBM16_uc011efk.1_Nonsense_Mutation_p.Q661*|RBM16_uc003qpz.2_Nonsense_Mutation_p.Q616*|RBM16_uc010kji.2_Nonsense_Mutation_p.Q637*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	616					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		CCAGACAACTCAGAGCCCAAC	0.448		NaN											0	0	0	0.01441	0	62	120				
TULP4	56995	broad.mit.edu	37	6	158924726	158924726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:158924726G>A	uc003qrf.2	+	13	5388	c.4031G>A	c.(4030-4032)CGA>CAA	p.R1344Q	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1344					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGGACAGCCGAGCAGAAGAA	0.537		NaN											0	0	0	0.004482	0	9	47				
TMEM181	57583	broad.mit.edu	37	6	159052907	159052907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159052907C>T	uc003qrm.3	+	17	1837	c.1826C>T	c.(1825-1827)TCA>TTA	p.S609L		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	609					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AAGGAGGAGTCAGATAGTGAC	0.557		NaN											0	0	0	0.004672	0	3	4				
SYTL3	94120	broad.mit.edu	37	6	159173048	159173048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159173048C>T	uc003qrp.2	+	12	1367	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	SYTL3_uc011efp.1_Nonsense_Mutation_p.Q375*|SYTL3_uc003qro.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrq.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrr.2_Nonsense_Mutation_p.Q375*|SYTL3_uc003qrs.2_Nonsense_Mutation_p.Q307*|SYTL3_uc011efq.1_Nonsense_Mutation_p.Q101*	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	375	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCCGACCTTTCAGGAGACCTT	0.577		NaN											0	0	0	0.000602	0	5	29				
EZR	7430	broad.mit.edu	37	6	159204664	159204664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159204664G>A	uc003qrt.3	-	6	801	c.586C>T	c.(586-588)CAG>TAG	p.Q196*	EZR_uc011efs.1_Nonsense_Mutation_p.Q164*|EZR_uc003qru.3_Nonsense_Mutation_p.Q196*	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	196	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCAGGTCCTGAGCAATCTTC	0.393		NaN											0	0	0	0.004656	0	28	106				
FNDC1	84624	broad.mit.edu	37	6	159677592	159677592	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677592C>T	uc010kjv.2	+	18	5303	c.5103C>T	c.(5101-5103)ATC>ATT	p.I1701I		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1701	Fibronectin type-III 5.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGACTTCATCAGGAACAAGT	0.423		NaN											0	0	0	0.01441	0	62	173				
FNDC1	84624	broad.mit.edu	37	6	159677606	159677606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677606C>G	uc010kjv.2	+	18	5317	c.5117C>G	c.(5116-5118)TCC>TGC	p.S1706C		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1706	Fibronectin type-III 5.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AACAAGTGGTCCACTCAAGCT	0.433		NaN											0	0	0	0.01441	0	65	168				
IGF2R	3482	broad.mit.edu	37	6	160500612	160500612	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160500612G>C	uc003qta.2	+	38	5627	c.5479G>C	c.(5479-5481)GTG>CTG	p.V1827L		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1827	13.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTTGTCCAGGTGACTCGCGA	0.577		NaN											0	0	0	0.004672	0	3	11				
LPA	4018	broad.mit.edu	37	6	160998217	160998217	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160998217A>G	uc003qtl.2	-	29	4702	c.4582T>C	c.(4582-4584)TCT>CCT	p.S1528P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4036	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTATCATAGATGACCAAGAT	0.463		NaN											0	0	0	0.004878	0	37	144				
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Silent	SNP	C	C	T	rs141139097		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:168352586C>T	uc003qwd.2	+	29	4670	c.4528C>T	c.(4528-4530)CTG>TTG	p.L1510L	MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1511					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGGGGACAGTCTGTCCCCCGA	0.602		NaN	T	MLL	AL								0	0	0	0.004656	0	24	29				
THBS2	7058	broad.mit.edu	37	6	169629759	169629759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:169629759G>C	uc003qwt.2	-	15	2415	c.2167C>G	c.(2167-2169)CTG>GTG	p.L723V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	723	TSP type-3 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAATTTGGCAGATGGGGGCAG	0.483		NaN											0	0	0	0.00278	0	22	97				
CARD11	84433	broad.mit.edu	37	7	2966391	2966391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966391C>T	uc003smv.2	-	14	2193	c.1789G>A	c.(1789-1791)GAC>AAC	p.D597N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	597					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTAAGGCGTCAAACCCGCCG	0.577		NaN	Mis		DLBCL								0	0	0	0.009096	0	4	11				
CARD11	84433	broad.mit.edu	37	7	2966418	2966418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966418C>T	uc003smv.2	-	14	2166	c.1762G>A	c.(1762-1764)GAA>AAA	p.E588K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	588					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCTTCTTCGACTGTGCTG	0.567		NaN	Mis		DLBCL								0	0	0	0.001168	0	5	12				
RNF216	54476	broad.mit.edu	37	7	5780687	5780687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:5780687G>C	uc003soy.1	-	4	980	c.790C>G	c.(790-792)CAA>GAA	p.Q264E	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.Q321E	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	264					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGGGCTCTTGAGATTCTTGC	0.453		NaN											0	0	0	0.012213	0	32	108				
ARL4A	10124	broad.mit.edu	37	7	12728246	12728246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:12728246G>A	uc003ssp.2	+	2	644	c.367G>A	c.(367-369)GAA>AAA	p.E123K	ARL4A_uc003ssq.2_Missense_Mutation_p.E123K|ARL4A_uc003ssr.2_Missense_Mutation_p.E123K|ARL4A_uc003sss.2_Missense_Mutation_p.E123K	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	123					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TAGGATATCAGAAAATCAGGG	0.378		NaN											0	0	0	0.013537	0	11	78				
ETV1	2115	broad.mit.edu	37	7	13975376	13975376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:13975376G>C	uc011jxq.1	-	8	1250	c.511C>G	c.(511-513)CCA>GCA	p.P171A	ETV1_uc011jxn.1_Missense_Mutation_p.P131A|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.P113A|ETV1_uc003ssw.3_Missense_Mutation_p.P171A|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.P153A|ETV1_uc011jxs.1_Missense_Mutation_p.P153A|ETV1_uc010ktv.2_Missense_Mutation_p.P40A	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	171					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						GACTGCGATGGAGGGAGGTGA	0.512		NaN	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								0	0	0	0.009535	0	30	176				
TMEM195	392636	broad.mit.edu	37	7	15601351	15601351	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:15601351T>C	uc003stb.1	-	1	290	c.120A>G	c.(118-120)GTA>GTG	p.V40V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	40					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TCACCTTTTTTACATAATCAG	0.373		NaN											0	0	0	0.003271	0	30	127				
AGR2	10551	broad.mit.edu	37	7	16840963	16840963	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:16840963G>A	uc003str.2	-	3	371	c.184C>T	c.(184-186)CTA>TTA	p.L62L	AGR2_uc011jxy.1_3'UTR	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	62					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GATTTATATAGAGCTTCTTCA	0.388		NaN											0	0	0	0.00245	0	14	55				
HDAC9	9734	broad.mit.edu	37	7	18705862	18705862	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:18705862G>A	uc003suh.2	+	11	1526	c.1485G>A	c.(1483-1485)CTG>CTA	p.L495L	HDAC9_uc003sue.2_Silent_p.L495L|HDAC9_uc011jyd.1_Silent_p.L495L|HDAC9_uc003sui.2_Silent_p.L498L|HDAC9_uc003suj.2_Silent_p.L454L|HDAC9_uc011jya.1_Silent_p.L492L|HDAC9_uc003sua.1_Silent_p.L473L|HDAC9_uc011jyb.1_Silent_p.L451L|HDAC9_uc003sud.1_Silent_p.L495L|HDAC9_uc011jyc.1_Silent_p.L454L|HDAC9_uc003suf.1_Silent_p.L526L|HDAC9_uc010kud.1_Silent_p.L498L|HDAC9_uc011jye.1_Silent_p.L467L|HDAC9_uc011jyf.1_Silent_p.L418L|HDAC9_uc010kue.1_Intron	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	495					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGAACAACTGAAGCAACCAG	0.473		NaN									OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	36	133				
NUPL2	11097	broad.mit.edu	37	7	23240239	23240239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:23240239G>C	uc003svu.2	+	7	1406	c.1147G>C	c.(1147-1149)GAT>CAT	p.D383H	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.D260H|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.D260H|NUPL2_uc011jyx.1_Missense_Mutation_p.D155H	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	383	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						CATTGCAACAGATAATGTGTT	0.393		NaN											0	0	0	0.00632	0	28	174				
C7orf41	222166	broad.mit.edu	37	7	30174846	30174846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:30174846G>A	uc011kab.1	+	1	295	c.94G>A	c.(94-96)GAT>AAT	p.D32N	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.D32N	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	32											0						ACGCAGGATGGATTTCTACGC	0.597		NaN											0	0	0	0.004672	0	3	13				
EEPD1	80820	broad.mit.edu	37	7	36327382	36327382	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:36327382G>A	uc003tfa.2	+	6	1951	c.1311G>A	c.(1309-1311)CTG>CTA	p.L437L		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	437					DNA repair		DNA binding				0						AGGAAACCCTGAAAGGTAGGA	0.567		NaN											0	0	0	0.01441	0	44	78				
PSMA2	5683	broad.mit.edu	37	7	42964297	42964297	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:42964297C>T	uc003thy.2	-	4	399	c.351G>A	c.(349-351)GTG>GTA	p.V117V	C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.V39V|PSMA2_uc003thz.1_Silent_p.V39V	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						ATTCTTGCATCACAGAAGCTA	0.393		NaN											0	0	0	0.005443	0	27	131				
HECW1	23072	broad.mit.edu	37	7	43540819	43540819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:43540819G>A	uc003tid.1	+	21	4134	c.3529G>A	c.(3529-3531)GAA>AAA	p.E1177K	HECW1_uc011kbi.1_Missense_Mutation_p.E1143K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1177					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CAGTCTCTTTGAAGAAGAGAT	0.423		NaN											0	0	0	0.001855	0	14	63				
NPC1L1	29881	broad.mit.edu	37	7	44573037	44573037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:44573037C>T	uc003tlb.2	-	8	2458	c.2402G>A	c.(2401-2403)AGG>AAG	p.R801K	NPC1L1_uc003tlc.2_Missense_Mutation_p.R801K|NPC1L1_uc011kbw.1_Missense_Mutation_p.R801K|NPC1L1_uc003tld.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	801	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TACCTCCTGCCTCTTGCTGTC	0.622		NaN											0	0	0	0.007291	0	29	40				
COBL	23242	broad.mit.edu	37	7	51095844	51095844	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:51095844C>T	uc003tpr.3	-	10	3134	c.2949G>A	c.(2947-2949)CAG>CAA	p.Q983Q	COBL_uc003tps.2_Silent_p.Q1040Q|COBL_uc011kcl.1_Silent_p.Q983Q|COBL_uc003tpp.3_Silent_p.Q769Q|COBL_uc003tpq.3_Silent_p.Q924Q|COBL_uc003tpo.3_Silent_p.Q525Q	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	983										skin(3)|ovary(2)	5	Glioma(55;0.08)					CACGATCCCTCTGGGAAGACT	0.557		NaN											0	0	0	0.004007	0	16	62				
VSTM2A	222008	broad.mit.edu	37	7	54612455	54612455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:54612455C>T	uc010kzf.2	+	2	625	c.220C>T	c.(220-222)CCC>TCC	p.P74S	VSTM2A_uc010kze.2_Missense_Mutation_p.P74S|VSTM2A_uc003tqc.3_Missense_Mutation_p.P74S	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	74	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			GGACCTGGATCCCGGGGCCGA	0.736		NaN											0	0	0	0.001984	0	7	14				
SUMF2	25870	broad.mit.edu	37	7	56141885	56141885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141885C>T	uc003trv.2	+	4	446	c.415C>T	c.(415-417)CCA>TCA	p.P139S	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.P139S|SUMF2_uc011kcx.1_Missense_Mutation_p.P139S|SUMF2_uc003trt.2_Missense_Mutation_p.P32S|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	120						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTGGCTTCCAGTGGAAAA	0.552		NaN									OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.011902	0	41	164				
SUMF2	25870	broad.mit.edu	37	7	56141899	56141899	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141899A>G	uc003trv.2	+	4	460	c.429A>G	c.(427-429)GCA>GCG	p.A143A	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.A143A|SUMF2_uc011kcx.1_Silent_p.A143A|SUMF2_uc003trt.2_Silent_p.A36A|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	124						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGAAAAGGCATTTTGGAGGC	0.552		NaN									OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006999	0	37	156				
SUMF2	25870	broad.mit.edu	37	7	56142308	56142308	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56142308G>A	uc003trv.2	+	5	502	c.471G>A	c.(469-471)GAG>GAA	p.E157E	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.E157E|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Silent_p.E50E|SUMF2_uc011kcy.1_Silent_p.E142E|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	138						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCATCCGAGAGAGACTGGAGC	0.597		NaN									OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	14	96				
ASL	435	broad.mit.edu	37	7	65554627	65554627	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:65554627C>G	uc003tuo.2	+	14	1118	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	ASL_uc003tup.2_Nonsense_Mutation_p.S336*|ASL_uc003tur.2_Nonsense_Mutation_p.S310*|ASL_uc003tuq.2_Nonsense_Mutation_p.S316*	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	336					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TTTGAAGTGTCAGACACTATG	0.642		NaN											0	0	0	0.003163	0	14	53				
SBDS	51119	broad.mit.edu	37	7	66456253	66456253	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66456253C>T	uc003tvm.1	-	4	679	c.495G>A	c.(493-495)ATG>ATA	p.M165I		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	165					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						GTTCTATCTTCATTTTCTCTT	0.368		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	0.00632	0	25	55				
STAG3L4	64940	broad.mit.edu	37	7	66771042	66771042	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66771042C>G	uc003tvt.3	+	2	326	c.59C>G	c.(58-60)ACT>AGT	p.T20S	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	20											0		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTTGTTAACTTTTTCATCT	0.368		NaN											0	0	0	0.009718	0	40	201				
WBSCR22	114049	broad.mit.edu	37	7	73107716	73107716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:73107716G>T	uc003tyt.2	+	8	626	c.568G>T	c.(568-570)GAC>TAC	p.D190Y	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.D190Y|WBSCR22_uc003tyv.2_Missense_Mutation_p.D152Y|WBSCR22_uc003tyw.1_Missense_Mutation_p.D53Y	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	190						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CATGGTGGTAGACTACCCTAA	0.602		NaN											1	0	0.00198382	0.001984	0.00201257	7	12				
TMEM120A	83862	broad.mit.edu	37	7	75617097	75617097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:75617097C>G	uc003ued.2	-	10	827	c.723G>C	c.(721-723)CAG>CAC	p.Q241H	TMEM120A_uc003uee.2_Missense_Mutation_p.E180Q|TMEM120A_uc003ueb.1_Missense_Mutation_p.Q27H|TMEM120A_uc003uec.2_Missense_Mutation_p.Q145H	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	transmembrane protein 120A	241	Cytoplasmic (Potential).					integral to membrane					0						GGCAGCCGCTCTGGTAGTAGT	0.687		NaN											0	0	0	0.009096	0	3	8				
PTPN12	5782	broad.mit.edu	37	7	77247848	77247848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77247848G>A	uc003ugh.2	+	12	1082	c.991G>A	c.(991-993)GAT>AAT	p.D331N	PTPN12_uc011kgp.1_Missense_Mutation_p.D212N|PTPN12_uc011kgq.1_Missense_Mutation_p.D201N|PTPN12_uc010lds.2_Missense_Mutation_p.D63N	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	331						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGAAAAACAAGATTCTCCTCC	0.348		NaN											0	0	0	0.003271	0	34	99				
PHTF2	57157	broad.mit.edu	37	7	77539723	77539723	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77539723C>G	uc003ugs.3	+	8	899	c.773C>G	c.(772-774)TCA>TGA	p.S258*	PHTF2_uc003ugo.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugp.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugq.3_Nonsense_Mutation_p.S220*|PHTF2_uc010ldv.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugr.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugt.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugu.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugv.2_Nonsense_Mutation_p.S83*|PHTF2_uc010ldw.1_Nonsense_Mutation_p.S83*	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTCTTTTTATCAGGGTTTGTA	0.398		NaN											0	0	0	0.006122	0	17	21				
MAGI2	9863	broad.mit.edu	37	7	78130895	78130895	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:78130895C>G	uc003ugx.2	-	5	1218	c.964G>C	c.(964-966)GAC>CAC	p.D322H	MAGI2_uc003ugy.2_Missense_Mutation_p.D322H|MAGI2_uc011kgr.1_Missense_Mutation_p.D154H|MAGI2_uc011kgs.1_Missense_Mutation_p.D159H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	322	WW 1.|Interaction with DDN.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAACTCACTCAATGAAGTAG	0.383		NaN											0	0	0	0.006122	0	17	74				
PCLO	27445	broad.mit.edu	37	7	82582282	82582282	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:82582282G>C	uc003uhx.2	-	5	8276	c.7987C>G	c.(7987-7989)CCC>GCC	p.P2663A	PCLO_uc003uhv.2_Missense_Mutation_p.P2663A|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2594					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGATGTGGGAGCTGCTTGA	0.443		NaN											0	0	0	0.00874	0	35	24				
SEMA3D	223117	broad.mit.edu	37	7	84702367	84702367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:84702367G>A	uc003uic.2	-	4	446	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	SEMA3D_uc010led.2_Nonsense_Mutation_p.Q136*|SEMA3D_uc010lee.1_Nonsense_Mutation_p.Q136*	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	136	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TTATAGGGCTGAAGTACTCTG	0.348		NaN											0	0	0	0.012319	0	20	61				
STEAP4	79689	broad.mit.edu	37	7	87912268	87912268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:87912268G>C	uc003ujs.2	-	3	777	c.672C>G	c.(670-672)ATC>ATG	p.I224M	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I224M	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	224					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					CATAAGGGTAGATTACGTCTC	0.383		NaN											0	0	0	0.003163	0	15	75				
STEAP2	261729	broad.mit.edu	37	7	89854699	89854699	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:89854699G>C	uc003ujz.2	+	2	696	c.303G>C	c.(301-303)CTG>CTC	p.L101L	STEAP2_uc003ujy.2_Silent_p.L143L|STEAP2_uc010len.2_Silent_p.L101L|STEAP2_uc003uka.2_Silent_p.L101L|STEAP2_uc003ukb.2_Silent_p.L101L|STEAP2_uc003ukc.2_Silent_p.L101L|STEAP2_uc003ukd.2_Silent_p.L101L	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	101					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					ATACCTCCCTGTGGGACCTGA	0.378		NaN											0	0	0	0.011902	0	45	158				
CDK14	5218	broad.mit.edu	37	7	90528612	90528612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90528612G>A	uc003uky.2	+	7	868	c.646G>A	c.(646-648)GAT>AAT	p.D216N	CDK14_uc003ukz.1_Missense_Mutation_p.D198N|CDK14_uc010les.1_Missense_Mutation_p.D170N|CDK14_uc011khl.1_Missense_Mutation_p.D87N	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	216	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						CTAGCACACTGATTTATGTCA	0.363		NaN											0	0	0	0.013537	0	12	31				
FZD1	8321	broad.mit.edu	37	7	90894810	90894810	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90894810C>T	uc003ula.2	+	1	1028	c.615C>T	c.(613-615)TTC>TTT	p.F205F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	205	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGAACAAGTTCGGCTTCCAGT	0.692		NaN											0	0	0	0.001855	0	13	28				
AKAP9	10142	broad.mit.edu	37	7	91630771	91630771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91630771G>A	uc003ulg.2	+	8	1765	c.1540G>A	c.(1540-1542)GAA>AAA	p.E514K	AKAP9_uc003ule.2_Missense_Mutation_p.E526K|AKAP9_uc003ulf.2_Missense_Mutation_p.E514K|AKAP9_uc003uli.2_Missense_Mutation_p.E139K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	526	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTCAAGGAAGAACTAGG	0.333		NaN	T	BRAF	papillary thyroid								0	0	0	0.010504	0	21	83				
AKAP9	10142	broad.mit.edu	37	7	91690664	91690664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91690664G>A	uc003ulg.2	+	23	5917	c.5692G>A	c.(5692-5694)GAA>AAA	p.E1898K	AKAP9_uc003ulf.2_Missense_Mutation_p.E1898K|AKAP9_uc003uli.2_Missense_Mutation_p.E1521K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1910	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGCCAAGAGGAACTTCGAGA	0.483		NaN	T	BRAF	papillary thyroid								0	0	0	0.004289	0	37	40				
SAMD9L	219285	broad.mit.edu	37	7	92762320	92762320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:92762320G>A	uc003umh.1	-	5	4181	c.2965C>T	c.(2965-2967)CAC>TAC	p.H989Y	SAMD9L_uc003umj.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umi.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umk.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.H989Y|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	989										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCAGAGGGTGAATGATACGC	0.358		NaN											0	0	0	0.007291	0	30	98				
PPP1R9A	55607	broad.mit.edu	37	7	94540505	94540505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:94540505G>A	uc003unp.2	+	2	1362	c.1080G>A	c.(1078-1080)CAG>CAA	p.Q360Q	PPP1R9A_uc010lfj.2_Silent_p.Q360Q|PPP1R9A_uc011kif.1_Silent_p.Q360Q|PPP1R9A_uc003unq.2_Silent_p.Q360Q|PPP1R9A_uc011kig.1_Silent_p.Q360Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	360						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAGCAACAGAGGAAAGAAC	0.438		NaN								HNSCC(28;0.073)			0	0	0	0.012213	0	34	26				
TAC1	6863	broad.mit.edu	37	7	97362008	97362008	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:97362008G>A	uc003uop.3	+	2	330	c.84G>A	c.(82-84)CTG>CTA	p.L28L	TAC1_uc003uoq.3_Silent_p.L28L|TAC1_uc003uor.3_Silent_p.L28L|TAC1_uc003uos.3_Silent_p.L28L	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	28					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	ATGATGATCTGAATTACTGGT	0.532		NaN											0	0	0	0.00333	0	25	71				
TRRAP	8295	broad.mit.edu	37	7	98528285	98528285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98528285C>T	uc003upp.2	+	25	3632	c.3423C>T	c.(3421-3423)ATC>ATT	p.I1141I	TRRAP_uc011kis.1_Silent_p.I1141I|TRRAP_uc003upr.2_Silent_p.I833I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1141					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCTTACATCGTGGAGCGCC	0.433		NaN											0	0	0	0.01441	0	104	130				
TRRAP	8295	broad.mit.edu	37	7	98581886	98581886	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98581886A>G	uc003upp.2	+	60	9414	c.9205A>G	c.(9205-9207)ACT>GCT	p.T3069A	TRRAP_uc011kis.1_Missense_Mutation_p.T3040A|TRRAP_uc003upr.2_Missense_Mutation_p.T2757A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3069	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACTATTCCAACTGTTCCTAT	0.473		NaN											0	0	0	0.00874	0	38	126				
PTCD1	26024	broad.mit.edu	37	7	99021515	99021515	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99021515C>A	uc003uqh.2	-	7	1934	c.1803G>T	c.(1801-1803)CTG>CTT	p.L601L	PTCD1_uc011kiw.1_Silent_p.L650L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	601	PPR 9.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGTAGTTCAGCTTCCTGA	0.527		NaN											1	0	7.92952e-12	0.003954	8.28857e-12	26	71				
CPSF4	10898	broad.mit.edu	37	7	99048377	99048377	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99048377C>T	uc003uqj.2	+	5	599	c.456C>T	c.(454-456)CTC>CTT	p.L152L	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.L152L|CPSF4_uc003uqk.2_Silent_p.L152L|CPSF4_uc011kix.1_Silent_p.L99L	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	152	C3H1-type 5.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAATTACCTCGTGGGATTCT	0.617		NaN											0	0	0	0.012319	0	20	67				
ZNF655	79027	broad.mit.edu	37	7	99170633	99170633	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99170633A>C	uc003urh.2	+	3	1295	c.902A>C	c.(901-903)AAA>ACA	p.K301T	ZNF655_uc010lga.2_Missense_Mutation_p.K336T|ZNF655_uc010lgc.2_Missense_Mutation_p.K336T|ZNF655_uc003urj.2_Missense_Mutation_p.K301T|ZNF655_uc003urk.2_Missense_Mutation_p.K138T|ZNF655_uc010lgd.2_Missense_Mutation_p.K138T	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	301					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCAGAGCCAAATCTTACAAA	0.393		NaN											0	0	0	0.014323	0	22	79				
CYP3A7	1551	broad.mit.edu	37	7	99305506	99305506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99305506G>C	uc003uru.2	-	12	1450	c.1345C>G	c.(1345-1347)CTC>GTC	p.L449V	ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	449					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ATGTTCACGAGAGCAAACCTC	0.403		NaN											0	0	0	0.01441	0	112	110				
C7orf47	221908	broad.mit.edu	37	7	100033913	100033913	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100033913G>C	uc003uuy.1	-	1	182	c.85C>G	c.(85-87)CAA>GAA	p.Q29E	C7orf47_uc003uux.1_5'UTR	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	hypothetical protein LOC221908	29	Pro-rich.									ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCGGGACTTGGGGCTCCGGG	0.677		NaN											0	0	0	0.001168	0	5	11				
LRCH4	4034	broad.mit.edu	37	7	100180050	100180050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100180050C>T	uc003uvj.2	-	2	306	c.253G>A	c.(253-255)GAG>AAG	p.E85K	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	85	LRR 2.				nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACGCCGCCTCGGGCACCTCG	0.647		NaN											0	0	0	0.004007	0	16	23				
PCOLCE	5118	broad.mit.edu	37	7	100201832	100201832	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100201832C>T	uc003uvo.2	+	3	653	c.455C>T	c.(454-456)TCG>TTG	p.S152L	uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.S152L|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	152					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGGCCACCTCGGGCACTGGT	0.522		NaN											0	0	0	0.000602	0	4	33				
ZAN	7455	broad.mit.edu	37	7	100391797	100391797	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100391797C>T	uc003uwj.2	+	45	8207	c.8042C>T	c.(8041-8043)TCA>TTA	p.S2681L	ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.S629L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2681	VWFC 5.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGCCAGCTCACGGATCCTG	0.617		NaN											0	0	0	0.01441	0	49	34				
SRRT	51593	broad.mit.edu	37	7	100478981	100478981	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100478981C>T	uc003uwy.2	+	4	466	c.198C>T	c.(196-198)TTC>TTT	p.F66F	SRRT_uc010lhl.1_Silent_p.F66F|SRRT_uc003uxa.2_Silent_p.F66F|SRRT_uc003uwz.2_Silent_p.F66F	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	66	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GAGAGCGCTTCTCGCCACCTC	0.597		NaN											0	0	0	0.004656	0	23	34				
SERPINE1	5054	broad.mit.edu	37	7	100773891	100773891	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100773891G>A	uc003uxt.2	+	3	609	c.461G>A	c.(460-462)AGA>AAA	p.R154K	SERPINE1_uc011kkj.1_Missense_Mutation_p.R139K|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	154					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GAGGTGGAGAGAGCCAGATTC	0.527		NaN											0	0	0	0.01441	0	120	124				
VGF	7425	broad.mit.edu	37	7	100806760	100806760	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100806760G>A	uc003uxx.3	-	2	1583	c.1365C>T	c.(1363-1365)CTC>CTT	p.L455L		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	455					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					ACAGCTCAATGAGGCTGTCGA	0.463		NaN											0	0	0	0.000602	0	5	10				
MLL5	55904	broad.mit.edu	37	7	104752302	104752302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104752302C>G	uc003vcm.2	+	27	4633	c.4099C>G	c.(4099-4101)CAA>GAA	p.Q1367E	MLL5_uc010ljc.2_Missense_Mutation_p.Q1367E|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.Q101E	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1367					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AATTCCTGCTCAAGCACACGG	0.408		NaN											0	0	0	0.00245	0	13	60				
SRPK2	6733	broad.mit.edu	37	7	104782887	104782887	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104782887C>T	uc003vct.2	-	10	1265	c.1078G>A	c.(1078-1080)GAA>AAA	p.E360K	SRPK2_uc003vcu.2_Missense_Mutation_p.E360K|SRPK2_uc003vcv.2_Missense_Mutation_p.E371K|SRPK2_uc003vcw.1_Missense_Mutation_p.E360K	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	360	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TCATCTTTTTCAATGTTTTCT	0.393		NaN											0	0	0	0.012213	0	33	137				
WNT2	7472	broad.mit.edu	37	7	116962989	116962989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:116962989G>A	uc003viz.2	-	1	355	c.55C>T	c.(55-57)CTC>TTC	p.L19F	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	19					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCGGGGGTGAGCCAGGTCAAG	0.607		NaN											0	0	0	0.001168	0	5	25				
C7orf58	79974	broad.mit.edu	37	7	120767150	120767150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:120767150G>A	uc003vjq.3	+	10	1588	c.1141G>A	c.(1141-1143)GAG>AAG	p.E381K	C7orf58_uc003vjr.1_Missense_Mutation_p.E381K|C7orf58_uc003vjs.3_Missense_Mutation_p.E381K|C7orf58_uc003vjt.3_Missense_Mutation_p.E161K|C7orf58_uc010lkk.1_Missense_Mutation_p.E161K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	381						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AAAGGTACACGAGCATTTAAA	0.289		NaN											0	0	0	0.00245	0	14	61				
RNF133	168433	broad.mit.edu	37	7	122337916	122337916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:122337916C>T	uc003vkj.1	-	1	1293	c.1057G>A	c.(1057-1059)GAG>AAG	p.E353K	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	353						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						GGGTTCTCCTCCACATGGATT	0.408		NaN											0	0	0	0.01441	0	61	135				
POT1	25913	broad.mit.edu	37	7	124482960	124482960	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:124482960T>A	uc003vlm.2	-	13	1665	c.1064A>T	c.(1063-1065)AAA>ATA	p.K355I	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.K224I|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	355					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						TTGAGGAGCTTTTTGTTTCAA	0.353		NaN											0	0	0	0.006122	0	19	72				
GCC1	79571	broad.mit.edu	37	7	127224211	127224211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:127224211C>T	uc003vma.2	-	1	1444	c.1026G>A	c.(1024-1026)ATG>ATA	p.M342I		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	342	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						TTACCTTTCTCATTTCCTGCT	0.443		NaN											0	0	0	0.007413	0	15	45				
FAM71F2	346653	broad.mit.edu	37	7	128317717	128317717	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:128317717C>A	uc003vnk.3	+	3	571	c.465C>A	c.(463-465)CTC>CTA	p.L155L	FAM71F2_uc010llm.1_Silent_p.L146L|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	155											0						ATCTGAAGCTCCACGAAAAAC	0.502		NaN											1	0	1.15919e-05	0.008871	1.18429e-05	17	39				
EXOC4	60412	broad.mit.edu	37	7	132990735	132990735	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:132990735C>T	uc003vrk.2	+	4	611	c.576C>T	c.(574-576)CTC>CTT	p.L192L	EXOC4_uc011kpo.1_Silent_p.L91L|EXOC4_uc003vri.2_Silent_p.L192L|EXOC4_uc003vrj.2_Silent_p.L192L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	192					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				ACTTGGTTCTCATAGATGAAC	0.488		NaN											0	0	0	0.003163	0	15	56				
AKR1B1	231	broad.mit.edu	37	7	134135636	134135636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134135636C>T	uc003vrp.1	-	3	327	c.253G>A	c.(253-255)GAG>AAG	p.E85K	AKR1B1_uc003vrq.1_RNA	NM_001628	NP_001619	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1	85					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			ovary(3)	3					NADH(DB00157)|Sulindac(DB00605)	AGGCCCTTCTCATGGTACGTG	0.562		NaN											0	0	0	0.00308	0	8	28				
WDR91	29062	broad.mit.edu	37	7	134873230	134873230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873230G>A	uc003vsp.2	-	13	1898	c.1836C>T	c.(1834-1836)TTC>TTT	p.F612F	WDR91_uc010lmq.2_Silent_p.F201F|WDR91_uc010lmr.2_Intron	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	612	WD 5.									breast(2)|ovary(1)|skin(1)	4						CATCATAGCTGAACTCCACAG	0.443		NaN											0	0	0	0.003755	0	33	104				
WDR91	29062	broad.mit.edu	37	7	134873240	134873240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873240G>A	uc003vsp.2	-	13	1888	c.1826C>T	c.(1825-1827)TCT>TTT	p.S609F	WDR91_uc010lmq.2_Missense_Mutation_p.S198F|WDR91_uc010lmr.2_Intron	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	609	WD 5.									breast(2)|ovary(1)|skin(1)	4						GAACTCCACAGAGTAGACCTC	0.483		NaN											0	0	0	0.004878	0	34	110				
CNOT4	4850	broad.mit.edu	37	7	135123034	135123034	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135123034G>C	uc003vsv.1	-	2	353	c.46C>G	c.(46-48)CTT>GTT	p.L16V	CNOT4_uc003vss.2_Missense_Mutation_p.L16V|CNOT4_uc011kpz.1_Missense_Mutation_p.L16V|CNOT4_uc003vst.2_Missense_Mutation_p.L16V|CNOT4_uc003vsu.1_Missense_Mutation_p.L16V|CNOT4_uc011kpy.1_Missense_Mutation_p.L16V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	16	RING-type; degenerate.			L->A,E: Abolishes interaction with E2 ubiquitin ligases.	nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCCATGCAAAGAGGGCACTCC	0.443		NaN											0	0	0	0.00278	0	24	22				
NUP205	23165	broad.mit.edu	37	7	135329649	135329649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135329649C>T	uc003vsw.2	+	40	5597	c.5566C>T	c.(5566-5568)CAG>TAG	p.Q1856*	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1856					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTAGTTGTGTCAGTCTGTGAT	0.383		NaN											0	0	0	0.00632	0	29	99				
CHRM2	1129	broad.mit.edu	37	7	136700170	136700170	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:136700170C>G	uc003vtf.1	+	4	1181	c.558C>G	c.(556-558)GTC>GTG	p.V186V	CHRM2_uc003vtg.1_Silent_p.V186V|CHRM2_uc003vtj.1_Silent_p.V186V|CHRM2_uc003vtk.1_Silent_p.V186V|CHRM2_uc003vtl.1_Silent_p.V186V|CHRM2_uc003vtm.1_Silent_p.V186V|CHRM2_uc003vti.1_Silent_p.V186V|CHRM2_uc003vto.1_Silent_p.V186V|CHRM2_uc003vtn.1_Silent_p.V186V|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	186	Helical; Name=5; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATGCTGCTGTCACCTTTGGTA	0.488		NaN											0	0	0	0.01441	0	57	60				
DGKI	9162	broad.mit.edu	37	7	137262020	137262020	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:137262020G>C	uc003vtt.2	-	17	1710	c.1709C>G	c.(1708-1710)TCT>TGT	p.S570C	DGKI_uc003vtu.2_Missense_Mutation_p.S270C	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	570					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TAGGAAGTCAGAAAAAGCTGC	0.328		NaN											0	0	0	0.004672	0	3	26				
LUC7L2	51631	broad.mit.edu	37	7	139083368	139083368	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139083368G>A	uc003vux.2	+	3	554	c.180G>A	c.(178-180)CTG>CTA	p.L60L	LUC7L2_uc011kqs.1_Silent_p.L57L|LUC7L2_uc011kqt.1_Silent_p.L126L|LUC7L2_uc003vuy.2_Silent_p.L59L|LUC7L2_uc003vuz.1_Silent_p.L7L|LUC7L2_uc003vva.2_Silent_p.L7L	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	60							enzyme binding|metal ion binding				0	Melanoma(164;0.242)					GAGAATGTCTGAAAGTCCATG	0.308		NaN											0	0	0	0.01441	0	49	52				
JHDM1D	80853	broad.mit.edu	37	7	139838913	139838913	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139838913G>T	uc003vvm.2	-	2	276	c.272C>A	c.(271-273)TCC>TAC	p.S91Y		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	91					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					ACTCAAGGAGGAACCATGTAA	0.358		NaN											1	0	6.03168e-27	0.004878	6.39099e-27	38	98				
RAB19	401409	broad.mit.edu	37	7	140125723	140125723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140125723G>C	uc010lni.2	+	4	625	c.427G>C	c.(427-429)GAG>CAG	p.E143Q	RAB19_uc011krc.1_Missense_Mutation_p.E143Q	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)					CGTCCTGTTCGAGGATGCCTG	0.468		NaN											0	0	0	0.010771	0	44	132				
DENND2A	27147	broad.mit.edu	37	7	140301337	140301337	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140301337G>A	uc010lnj.2	-	1	1006	c.861C>T	c.(859-861)ATC>ATT	p.I287I	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.I287I|DENND2A_uc003vvw.2_Silent_p.I287I|DENND2A_uc003vvx.2_Silent_p.I287I	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	287										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TCCTGAAGCCGATGCCAGGCT	0.378		NaN											0	0	0	0.01441	0	47	105				
EPHB6	2051	broad.mit.edu	37	7	142564247	142564247	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:142564247G>A	uc011kst.1	+	10	2258	c.1471G>A	c.(1471-1473)GTC>ATC	p.V491I	EPHB6_uc011ksu.1_Missense_Mutation_p.V491I|EPHB6_uc003wbs.2_Missense_Mutation_p.V199I|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.V199I|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	491	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GCCCTCTGCTGTCCCTGTGGT	0.607		NaN											0	0	0	0.010729	0	11	43				
OR2A5	393046	broad.mit.edu	37	7	143747957	143747957	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:143747957C>T	uc011ktw.1	+	1	463	c.463C>T	c.(463-465)CTG>TTG	p.L155L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					TGGTTCCCTTCTGGCCCTGGT	0.532		NaN											0	0	0	0.01441	0	62	166				
NOBOX	135935	broad.mit.edu	37	7	144101707	144101707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:144101707G>A	uc011kue.1	-	2	152	c.152C>T	c.(151-153)TCT>TTT	p.S51F		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	51					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GGAGCTGAAAGAGCCACAGAC	0.463		NaN											0	0	0	0.007413	0	18	71				
ZNF786	136051	broad.mit.edu	37	7	148771522	148771522	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:148771522A>G	uc003wfh.2	-	3	391	c.254T>C	c.(253-255)GTT>GCT	p.V85A	ZNF786_uc011kuk.1_Missense_Mutation_p.V48A|ZNF786_uc003wfi.2_5'UTR	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATGCATATCAACAGAGGAGCA	0.428		NaN											0	0	0	0.006214	0	10	40				
AGAP3	116988	broad.mit.edu	37	7	150814758	150814758	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:150814758C>T	uc003wjg.1	+	5	603	c.600C>T	c.(598-600)TTC>TTT	p.F200F	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.F200F|AGAP3_uc010lpy.1_Silent_p.F200F|AGAP3_uc003wjh.1_Silent_p.F380F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	164	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						TGTTTGTGTTCAGCCTGGAGG	0.552		NaN											0	0	0	0.00623	0	40	129				
GALNT11	63917	broad.mit.edu	37	7	151818704	151818704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:151818704C>T	uc010lqg.1	+	12	1999	c.1769C>T	c.(1768-1770)TCT>TTT	p.S590F	GALNT11_uc011kvm.1_Missense_Mutation_p.S509F|GALNT11_uc003wku.2_Missense_Mutation_p.S590F	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	590	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGAAGGGCTCTGTCGCCATG	0.517		NaN											0	0	0	0.00499	0	18	41				
RNF32	140545	broad.mit.edu	37	7	156437437	156437437	+	Missense_Mutation	SNP	C	C	G	rs138495614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156437437C>G	uc003wmo.2	+	3	442	c.260C>G	c.(259-261)CCG>CGG	p.P87R	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.P87R|RNF32_uc003wmp.2_Missense_Mutation_p.P87R|RNF32_uc003wmq.2_Missense_Mutation_p.P87R|RNF32_uc003wmr.2_Missense_Mutation_p.P87R|RNF32_uc003wms.2_Missense_Mutation_p.P87R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.P87R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	87						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCCAAACCGCCGCCGTTGACT	0.348		NaN											0	0	0	0.003163	0	14	51				
NOM1	64434	broad.mit.edu	37	7	156743173	156743173	+	Missense_Mutation	SNP	G	G	A	rs151324588	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156743173G>A	uc003wmy.2	+	1	757	c.742G>A	c.(742-744)GAA>AAA	p.E248K		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	248	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACACTCCCCGAAAGTGACTT	0.338		NaN											0	0	0	0.003163	0	15	58				
NOM1	64434	broad.mit.edu	37	7	156754887	156754887	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156754887G>A	uc003wmy.2	+	5	1690	c.1675G>A	c.(1675-1677)GAC>AAC	p.D559N	NOM1_uc010lqp.1_Missense_Mutation_p.D8N	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	559	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAACAATGACATGCGCAA	0.438		NaN											0	0	0	0.01441	0	86	102				
DEFA5	1670	broad.mit.edu	37	8	6914118	6914118	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:6914118C>T	uc003wra.1	-	1	142	c.102G>A	c.(100-102)CAG>CAA	p.Q34Q		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	34					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTTCCCCAGACTGCTTCTGGG	0.537		NaN											0	0	0	0.012213	0	33	25				
RP1L1	94137	broad.mit.edu	37	8	10465561	10465561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10465561G>A	uc003wtc.2	-	4	6276	c.6047C>T	c.(6046-6048)GCC>GTC	p.A2016V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2016					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTCTGGCTGGGCCTCCTCTTC	0.607		NaN											0	0	0	0.004878	0	37	57				
SOX7	83595	broad.mit.edu	37	8	10583400	10583400	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10583400G>A	uc003wtf.2	-	2	1094	c.1015C>T	c.(1015-1017)CCT>TCT	p.P339S	SOX7_uc011kwz.1_Missense_Mutation_p.P391S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	339	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGGCCAGGAGTGTTCAAA	0.612		NaN											0	0	0	0.013537	0	12	13				
MTMR7	9108	broad.mit.edu	37	8	17161949	17161949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17161949C>T	uc003wxm.2	-	12	1671	c.1432G>A	c.(1432-1434)GAT>AAT	p.D478N	MTMR7_uc003wxn.2_Missense_Mutation_p.D257N|MTMR7_uc011kya.1_Missense_Mutation_p.D112N|MTMR7_uc011kyb.1_Missense_Mutation_p.D69N	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	478	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		TGGCTGTGATCAGCTCTAAAC	0.418		NaN											0	0	0	0.009535	0	30	28				
MTMR7	9108	broad.mit.edu	37	8	17198941	17198941	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17198941C>A	uc003wxm.2	-	6	902	c.663G>T	c.(661-663)CAG>CAT	p.Q221H	MTMR7_uc003wxn.2_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	221	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CCTGGAGCATCTGCTCGTCCT	0.572		NaN											1	0	0.00185496	0.001855	0.00188537	14	13				
FGL1	2267	broad.mit.edu	37	8	17722196	17722196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17722196C>T	uc003wxx.2	-	9	1168	c.844G>A	c.(844-846)GGG>AGG	p.G282R	FGL1_uc003wxy.2_Missense_Mutation_p.G282R|FGL1_uc003wxz.2_Missense_Mutation_p.G281R|FGL1_uc003wya.2_Missense_Mutation_p.G282R|FGL1_uc003wyb.2_Missense_Mutation_p.G282R|FGL1_uc003wyc.2_Missense_Mutation_p.G282R|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.G332R|FGL1_uc003wyf.2_Missense_Mutation_p.G252R	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	282	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAGACAATCCCATTGTCTGTT	0.403		NaN											0	0	0	0.010729	0	11	10				
PSD3	23362	broad.mit.edu	37	8	18725265	18725265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:18725265G>C	uc003wza.2	-	4	1656	c.1553C>G	c.(1552-1554)TCT>TGT	p.S518C		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	518					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACGCCACTAGAATAGCCCAT	0.527		NaN											0	0	0	0.008871	0	21	30				
RHOBTB2	23221	broad.mit.edu	37	8	22864615	22864615	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:22864615C>G	uc003xcq.2	+	5	1394	c.857C>G	c.(856-858)TCC>TGC	p.S286C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.S308C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S293C|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	286	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATCTACCTCTCCACCTCTTCC	0.657		NaN											0	0	0	0.00632	0	26	23				
PTK2B	2185	broad.mit.edu	37	8	27301724	27301724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27301724C>T	uc003xfn.1	+	28	2958	c.2150C>T	c.(2149-2151)CCC>CTC	p.P717L	PTK2B_uc003xfo.1_Missense_Mutation_p.P717L|PTK2B_uc003xfp.1_Missense_Mutation_p.P717L|PTK2B_uc003xfq.1_Missense_Mutation_p.P717L|PTK2B_uc003xfr.1_Missense_Mutation_p.P463L	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	717	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCTCTCCAGCCCAGCCGACCT	0.537		NaN											0	0	0	0.006214	0	8	10				
EPHX2	2053	broad.mit.edu	37	8	27361252	27361252	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27361252C>T	uc003xfu.2	+	3	399	c.318C>T	c.(316-318)CTC>CTT	p.L106L	EPHX2_uc010lut.1_Silent_p.L106L|EPHX2_uc010luu.2_Silent_p.L106L|EPHX2_uc010luv.2_Silent_p.L40L|EPHX2_uc003xfv.2_Silent_p.L53L|EPHX2_uc010luw.2_Silent_p.L40L|EPHX2_uc011lam.1_5'Flank	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	106	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GCCCCATGCTCCAGGCAGCTC	0.507		NaN											0	0	0	0.00308	0	7	13				
PROSC	11212	broad.mit.edu	37	8	37632915	37632915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37632915G>C	uc003xkh.2	+	6	590	c.513G>C	c.(511-513)AAG>AAC	p.K171N		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	171							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TAAACGCCAAGTGTCCTAACC	0.488		NaN											0	0	0	0.01441	0	48	76				
ASH2L	9070	broad.mit.edu	37	8	37974186	37974186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37974186C>T	uc003xkt.3	+	8	854	c.796C>T	c.(796-798)CCT>TCT	p.P266S	ASH2L_uc011lbk.1_Missense_Mutation_p.P127S|ASH2L_uc003xku.3_Missense_Mutation_p.P172S|ASH2L_uc010lwa.2_Missense_Mutation_p.P172S	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	266					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TAACATTGGTCCTGCTTATGA	0.353		NaN											0	0	0	0.013726	0	31	43				
WHSC1L1	54904	broad.mit.edu	37	8	38148131	38148131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38148131C>T	uc003xli.2	-	17	3498	c.2980G>A	c.(2980-2982)GAC>AAC	p.D994N	WHSC1L1_uc011lbm.1_Missense_Mutation_p.D994N|WHSC1L1_uc010lwe.2_Missense_Mutation_p.D945N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	994	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCCCCCAAGTCATGTTTAAGG	0.473		NaN	T	NUP98	AML								0	0	0	0.011902	0	47	161				
C8orf86	389649	broad.mit.edu	37	8	38369913	38369913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38369913C>T	uc003xlx.1	-	3	689	c.664G>A	c.(664-666)GAA>AAA	p.E222K		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	222											0						tcttaaacttcagcacacacc	0.219		NaN											0	0	0	0.006214	0	10	48				
IKBKB	3551	broad.mit.edu	37	8	42129721	42129721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:42129721C>G	uc003xow.1	+	2	280	c.103C>G	c.(103-105)CAG>GAG	p.Q35E	IKBKB_uc003xov.2_Missense_Mutation_p.Q35E|IKBKB_uc010lxh.1_Nonsense_Mutation_p.S24*|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.I7M|IKBKB_uc003xox.1_Translation_Start_Site|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.I7M	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	35	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATGGCACAATCAGGTAGGCCC	0.607		NaN											0	0	0	0.003163	0	15	56				
KIAA0146	23514	broad.mit.edu	37	8	48508407	48508407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:48508407G>A	uc003xqd.2	+	9	1141	c.1132G>A	c.(1132-1134)GTT>ATT	p.V378I	KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.V67I|KIAA0146_uc011ldb.1_Missense_Mutation_p.V378I|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Missense_Mutation_p.V308I|KIAA0146_uc011ldd.1_Missense_Mutation_p.V318I|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.V67I|KIAA0146_uc010lxt.2_Missense_Mutation_p.V67I	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	378											0		Lung NSC(58;0.175)				AAGTTGCCCTGTTATTCTGAA	0.388		NaN											0	0	0	0.01441	0	58	53				
ATP6V1H	51606	broad.mit.edu	37	8	54742015	54742015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54742015C>T	uc003xrl.2	-	4	447	c.295G>A	c.(295-297)GAT>AAT	p.D99N	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D59N|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D99N|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D99N|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D19N|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D35N	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TGCAGCATATCATCCACCATA	0.318		NaN											0	0	0	0.006122	0	17	131				
LYPLA1	10434	broad.mit.edu	37	8	54965251	54965251	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54965251G>A	uc003xry.2	-	7	620	c.426C>T	c.(424-426)CTC>CTT	p.L142L	LYPLA1_uc011ldx.1_Intron|LYPLA1_uc003xrz.2_Silent_p.L121L	NM_006330	NP_006321	O75608	LYPA1_HUMAN	lysophospholipase 1	142					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GCCAGCAACTGAGTGCAGTGA	0.458		NaN											0	0	0	0.006214	0	8	46				
MRPL15	29088	broad.mit.edu	37	8	55060079	55060079	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:55060079G>A	uc003xsa.2	+	5	754	c.691G>A	c.(691-693)GAA>AAA	p.E231K		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	231					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CAAATTTCCTGAAGCACGACT	0.438		NaN											0	0	0	0.010504	0	20	121				
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015534C>T	uc003xsf.2	+	1	518	c.486C>T	c.(484-486)TTC>TTT	p.F162F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	162	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652		NaN											0	0	0	0.008361	0	30	27				
XKR4	114786	broad.mit.edu	37	8	56015540	56015540	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015540C>T	uc003xsf.2	+	1	524	c.492C>T	c.(490-492)TTC>TTT	p.F164F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	164	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTCAGCTTCCGCTGGTTTG	0.662		NaN											0	0	0	0.013537	0	11	40				
NSMAF	8439	broad.mit.edu	37	8	59555592	59555592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:59555592C>A	uc003xtt.2	-	2	314	c.100G>T	c.(100-102)GAA>TAA	p.E34*	NSMAF_uc011lee.1_Nonsense_Mutation_p.E65*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.E34*	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	34					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CTATGCTGTTCAAAGTAGTAC	0.393		NaN											1	0	3.07112e-06	0.010729	3.14652e-06	12	101				
CYP7B1	9420	broad.mit.edu	37	8	65528701	65528701	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:65528701C>T	uc003xvj.2	-	3	601	c.397G>A	c.(397-399)GAC>AAC	p.D133N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	133					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATTCATGTCATGATTTTTT	0.318		NaN											0	0	0	0.008871	0	19	121				
PDE7A	5150	broad.mit.edu	37	8	66631545	66631545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:66631545G>A	uc003xvq.2	-	13	1441	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*	MTFR1_uc003xvo.1_Intron|PDE7A_uc003xvp.2_Nonsense_Mutation_p.Q451*	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	477						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGATTTTCCTGAGGTAATAAC	0.478		NaN											0	0	0	0.003163	0	13	87				
CRH	1392	broad.mit.edu	37	8	67089335	67089335	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67089335G>A	uc003xvy.1	-	2	563	c.378C>T	c.(376-378)CTC>CTT	p.L126L		NM_000756	NP_000747	P06850	CRF_HUMAN	corticotropin releasing hormone precursor	126					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CGGGGCTGTCGAGCGAGCGCC	0.711		NaN									OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	5				
VCPIP1	80124	broad.mit.edu	37	8	67576939	67576939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67576939C>T	uc003xwn.2	-	1	2514	c.2255G>A	c.(2254-2256)CGT>CAT	p.R752H	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	752					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGGACCATCACGAATGGTACT	0.448		NaN											0	0	0	0.004289	0	37	175				
VCPIP1	80124	broad.mit.edu	37	8	67577466	67577466	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67577466G>A	uc003xwn.2	-	1	1987	c.1728C>T	c.(1726-1728)TTC>TTT	p.F576F	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	576					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAAGTGTTTGAATCCACAAC	0.433		NaN											0	0	0	0.01441	0	59	261				
CSPP1	79848	broad.mit.edu	37	8	67976635	67976635	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67976635T>C	uc003xxi.2	+	1	33	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CSPP1_uc003xxg.1_Missense_Mutation_p.M1T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.M1T|COPS5_uc003xxd.2_5'Flank|COPS5_uc003xxe.2_5'Flank|COPS5_uc003xxf.2_5'Flank|COPS5_uc010lyv.1_5'Flank	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTCTGTCATGCTGTTCCCG	0.721		NaN									OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	16				
CPA6	57094	broad.mit.edu	37	8	68421789	68421789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:68421789C>T	uc003xxq.3	-	5	753	c.497G>A	c.(496-498)GGA>GAA	p.G166E	CPA6_uc003xxr.3_Missense_Mutation_p.G18E|CPA6_uc003xxs.2_Missense_Mutation_p.G166E	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	166					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATATGATCTTCCAATAGAGAA	0.299		NaN											0	0	0	0.010818	0	29	147				
PRDM14	63978	broad.mit.edu	37	8	70978524	70978524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:70978524G>A	uc003xym.2	-	5	1331	c.1129C>T	c.(1129-1131)CCT>TCT	p.P377S		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGCTCACAGGAATATCCAGA	0.512		NaN											0	0	0	0.010504	0	20	112				
RPL7	6129	broad.mit.edu	37	8	74205835	74205835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:74205835C>T	uc003xzg.2	-	1	35	c.13G>A	c.(13-15)GAA>AAA	p.E5K	RPL7_uc003xzh.1_Intron|RDH10_uc003xzi.2_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	ribosomal protein L7	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome				0	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GCAACTCACTCTACACCCTCC	0.502		NaN											0	0	0	0.000602	0	5	28				
ZNF704	619279	broad.mit.edu	37	8	81582772	81582772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:81582772C>T	uc003yby.1	-	5	857	c.625G>A	c.(625-627)GGT>AGT	p.G209S		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	209	C2H2-type.					intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTCTGGATACCTGCTGCAGTG	0.507		NaN											0	0	0	0.007291	0	28	161				
SLC10A5	347051	broad.mit.edu	37	8	82606862	82606862	+	Missense_Mutation	SNP	C	C	T	rs148561963		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:82606862C>T	uc011lfs.1	-	1	346	c.346G>A	c.(346-348)GAA>AAA	p.E116K		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	116	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity				0						TTGATTTCTTCAATGAGTCTT	0.363		NaN											0	0	0	0.013114	0	41	183				
DCAF4L2	138009	broad.mit.edu	37	8	88885315	88885315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:88885315C>G	uc003ydz.2	-	1	982	c.885G>C	c.(883-885)AAG>AAC	p.K295N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	295	WD 1.									ovary(1)	1						AGTCCCACAGCTTGATAGTTC	0.493		NaN											0	0	0	0.010729	0	12	81				
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:93017372C>T	uc003yfd.2	-	5	796	c.712G>A	c.(712-714)GAA>AAA	p.E238K	RUNX1T1_uc003yfc.1_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.E201K|RUNX1T1_uc010mao.2_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.1_Missense_Mutation_p.E249K|RUNX1T1_uc003yfb.1_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542		NaN											0	0	0	0.005443	0	26	170				
PTDSS1	9791	broad.mit.edu	37	8	97274371	97274371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97274371G>A	uc003yht.1	+	1	205	c.103G>A	c.(103-105)GAC>AAC	p.D35N	MTERFD1_uc003yhs.1_5'Flank|MTERFD1_uc010mbd.1_5'Flank|PTDSS1_uc003yhu.1_5'UTR	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	35					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CATCACCATTGACTTCTTCTA	0.577		NaN											0	0	0	0.001855	0	12	57				
PGCP	10404	broad.mit.edu	37	8	97797339	97797339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97797339G>C	uc003yhw.2	+	2	380	c.214G>C	c.(214-216)GAT>CAT	p.D72H	PGCP_uc010mbe.2_Missense_Mutation_p.D72H	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	72					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					ACTTCTGGTTGATACTGTTGG	0.453		NaN											0	0	0	0.00499	0	18	122				
VPS13B	157680	broad.mit.edu	37	8	100454826	100454826	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100454826G>A	uc003yiv.2	+	23	3519	c.3408G>A	c.(3406-3408)GAG>GAA	p.E1136E	VPS13B_uc003yiw.2_Silent_p.E1136E|VPS13B_uc003yiu.1_Silent_p.E1136E|VPS13B_uc003yix.1_Silent_p.E606E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1136					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTGCAGGAGATTCCATTTG	0.393		NaN											0	0	0	0.013537	0	13	52				
VPS13B	157680	broad.mit.edu	37	8	100883099	100883099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100883099C>T	uc003yiv.2	+	60	11665	c.11554C>T	c.(11554-11556)CAT>TAT	p.H3852Y	VPS13B_uc003yiw.2_Missense_Mutation_p.H3827Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3852					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAAACAGCCATGTCAAATA	0.433		NaN											0	0	0	0.006122	0	17	60				
RNF19A	25897	broad.mit.edu	37	8	101300012	101300012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101300012C>T	uc003yjj.1	-	3	708	c.391G>A	c.(391-393)GAG>AAG	p.E131K	RNF19A_uc003yjk.1_Missense_Mutation_p.E131K|RNF19A_uc003yjl.1_Missense_Mutation_p.E131K	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	131					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AAAGGGCACTCTATGAAGTCT	0.368		NaN											0	0	0	0.01441	0	61	231				
YWHAZ	7534	broad.mit.edu	37	8	101932959	101932959	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101932959C>G	uc011lhe.1	-	6	877	c.700G>C	c.(700-702)GGA>CGA	p.G234R	YWHAZ_uc003yjv.2_Missense_Mutation_p.G234R|YWHAZ_uc011lhf.1_Missense_Mutation_p.G234R|YWHAZ_uc003yjw.2_Missense_Mutation_p.G234R|YWHAZ_uc010mbq.2_Missense_Mutation_p.G157R|YWHAZ_uc011lhg.1_Missense_Mutation_p.G114R|YWHAZ_uc010mbr.2_Missense_Mutation_p.G234R|YWHAZ_uc003yjx.2_Missense_Mutation_p.G234R	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	234					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GCTTCGTCTCCTTGGGTATCC	0.458		NaN											0	0	0	0.00632	0	21	98				
ATP6V1C1	528	broad.mit.edu	37	8	104080913	104080913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:104080913C>G	uc003ykz.3	+	13	1332	c.1087C>G	c.(1087-1089)CAA>GAA	p.Q363E	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q288E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q363E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q288E	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	363					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAACCTGAGTCAACAAGAATA	0.368		NaN											0	0	0	0.006122	0	16	100				
LRP12	29967	broad.mit.edu	37	8	105503092	105503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:105503092C>T	uc003yma.2	-	7	2484	c.2389G>A	c.(2389-2391)GAT>AAT	p.D797N	LRP12_uc003ymb.2_Missense_Mutation_p.D778N|LRP12_uc003ylz.2_Missense_Mutation_p.D203N	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	797	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGCAAGATCAAGAAGAGGT	0.443		NaN											0	0	0	0.003271	0	34	138				
ZFPM2	23414	broad.mit.edu	37	8	106813421	106813421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:106813421G>A	uc003ymd.2	+	8	1134	c.1111G>A	c.(1111-1113)GGC>AGC	p.G371S	ZFPM2_uc011lhs.1_Missense_Mutation_p.G102S|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	371	C2H2-type 3.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGCCATTTCGGCTTCCAGAC	0.512		NaN											0	0	0	0.01441	0	43	193				
OXR1	55074	broad.mit.edu	37	8	107719112	107719112	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:107719112G>C	uc011lht.1	+	8	1465	c.1366G>C	c.(1366-1368)GAG>CAG	p.E456Q	OXR1_uc003ymf.2_Missense_Mutation_p.E455Q|OXR1_uc011lhu.1_Missense_Mutation_p.E448Q|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.E153Q|OXR1_uc003ymg.1_Missense_Mutation_p.E388Q|OXR1_uc003ymi.1_Missense_Mutation_p.E367Q	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	456					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTTTCTTCATGAGAATTCGTT	0.353		NaN											0	0	0	0.01441	0	86	41				
ANGPT1	284	broad.mit.edu	37	8	108509537	108509537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:108509537G>A	uc003ymn.2	-	1	718	c.250C>T	c.(250-252)CAA>TAA	p.Q84*	ANGPT1_uc003ymo.2_Nonsense_Mutation_p.Q84*	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	84	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCCAGATGTTGAAGTTTCTGG	0.448		NaN											0	0	0	0.009535	0	30	142				
ANGPT1	284	broad.mit.edu	37	8	108509747	108509747	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:108509747G>A	uc003ymn.2	-	1	508	c.40C>T	c.(40-42)CTG>TTG	p.L14L	ANGPT1_uc003ymo.2_Silent_p.L14L	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	14					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATGTGAGTCAGAATGGCAGCG	0.483		NaN											0	0	0	0.00308	0	8	51				
CSMD3	114788	broad.mit.edu	37	8	113518955	113518955	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:113518955G>A	uc003ynu.2	-	29	5019	c.4860C>T	c.(4858-4860)GTC>GTT	p.V1620V	CSMD3_uc003yns.2_Silent_p.V892V|CSMD3_uc003ynt.2_Silent_p.V1580V|CSMD3_uc011lhx.1_Silent_p.V1516V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1620	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGTCTGCATTGACGGTGATAG	0.393		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.004656	0	26	124				
UTP23	84294	broad.mit.edu	37	8	117782536	117782536	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:117782536G>C	uc003yoc.2	+	2	395	c.294G>C	c.(292-294)GTG>GTC	p.V98V		NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component,	98					rRNA processing	nucleolus					0						AGAATGCAGTGAGTGGATCAG	0.383		NaN											0	0	0	0.004656	0	27	124				
HAS2	3037	broad.mit.edu	37	8	122629422	122629422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:122629422C>G	uc003yph.2	-	3	1190	c.652G>C	c.(652-654)GAC>CAC	p.D218H		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	218	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GAGGCTGGGTCAAGCATAGTG	0.393		NaN											0	0	0	0.004482	0	9	52				
ZHX1	11244	broad.mit.edu	37	8	124266210	124266210	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:124266210C>A	uc003yqe.2	-	3	2407	c.1977G>T	c.(1975-1977)GGG>GGT	p.G659G	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.G659G|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.G659G	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	659					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCTGTACTCCCTGACTTAG	0.438		NaN											1	0	1.99824e-07	0.00499	2.05896e-07	16	161				
EFR3A	23167	broad.mit.edu	37	8	132991170	132991170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:132991170C>G	uc003yte.2	+	13	1604	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	468						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATCACCATCTCTCATGGAG	0.443		NaN											0	0	0	0.003271	0	35	141				
KHDRBS3	10656	broad.mit.edu	37	8	136554899	136554899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:136554899C>G	uc003yuv.2	+	3	604	c.210C>G	c.(208-210)TTC>TTG	p.F70L	KHDRBS3_uc003yuw.2_Missense_Mutation_p.F70L	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	70	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTTCCTAGTTCAACTTTGTGG	0.363		NaN											0	0	0	0.01441	0	134	81				
COL22A1	169044	broad.mit.edu	37	8	139648989	139648989	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:139648989T>C	uc003yvd.2	-	48	3998	c.3551A>G	c.(3550-3552)GAT>GGT	p.D1184G	COL22A1_uc011ljo.1_Missense_Mutation_p.D464G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1184	Pro-rich.|Gly-rich.|Collagen-like 11.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTACCTGATCACCTTTCTG	0.413		NaN								HNSCC(7;0.00092)			0	0	0	0.01441	0	66	342				
ZNF623	9831	broad.mit.edu	37	8	144732386	144732386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144732386G>C	uc003yzd.2	+	1	433	c.344G>C	c.(343-345)AGA>ACA	p.R115T	ZNF623_uc011lkp.1_Missense_Mutation_p.R75T|ZNF623_uc003yzc.2_Missense_Mutation_p.R75T	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCTTCAGAGAGAGCTCATA	0.478		NaN											0	0	0	0.014323	0	18	146				
SCRIB	23513	broad.mit.edu	37	8	144895820	144895820	+	Missense_Mutation	SNP	C	C	G	rs144081360	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144895820C>G	uc003yzp.1	-	4	440	c.433G>C	c.(433-435)GGG>CGG	p.G145R	SCRIB_uc003yzo.1_Missense_Mutation_p.G145R|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	145	Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCACGTCCCCGGGCAGTGCC	0.642		NaN											0	0	0	0.008291	0	9	49				
PUF60	22827	broad.mit.edu	37	8	144898723	144898723	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144898723C>T	uc003yzs.2	-	12	1711	c.1647G>A	c.(1645-1647)CAG>CAA	p.Q549Q	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.Q489Q|PUF60_uc003yzt.2_Silent_p.Q532Q|PUF60_uc003yzq.2_Silent_p.Q506Q	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	549	RRM 3; atypical.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAAAACGCTCCTGGTCGTACA	0.532		NaN											0	0	0	0.01441	0	77	45				
EPPK1	83481	broad.mit.edu	37	8	144940699	144940699	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144940699C>T	uc003zaa.1	-	2	14746	c.14733G>A	c.(14731-14733)GAG>GAA	p.E4911E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4911	Plectin 61.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTCATCTTCTCCTGGCGGC	0.697		NaN											0	0	0	0.000602	0	5	83				
PLEC	5339	broad.mit.edu	37	8	144991306	144991306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144991306G>A	uc003zaf.1	-	32	13264	c.13094C>T	c.(13093-13095)TCC>TTC	p.S4365F	PLEC_uc003zab.1_Missense_Mutation_p.S4228F|PLEC_uc003zac.1_Missense_Mutation_p.S4232F|PLEC_uc003zad.2_Missense_Mutation_p.S4228F|PLEC_uc003zae.1_Missense_Mutation_p.S4196F|PLEC_uc003zag.1_Missense_Mutation_p.S4206F|PLEC_uc003zah.2_Missense_Mutation_p.S4214F|PLEC_uc003zaj.2_Missense_Mutation_p.S4255F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4365	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTCGGTGATGGAGAGCGTGCC	0.667		NaN											0	0	0	0.001168	0	6	33				
PLEC	5339	broad.mit.edu	37	8	144997136	144997136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144997136C>T	uc003zaf.1	-	31	7542	c.7372G>A	c.(7372-7374)GAG>AAG	p.E2458K	PLEC_uc003zab.1_Missense_Mutation_p.E2321K|PLEC_uc003zac.1_Missense_Mutation_p.E2325K|PLEC_uc003zad.2_Missense_Mutation_p.E2321K|PLEC_uc003zae.1_Missense_Mutation_p.E2289K|PLEC_uc003zag.1_Missense_Mutation_p.E2299K|PLEC_uc003zah.2_Missense_Mutation_p.E2307K|PLEC_uc003zaj.2_Missense_Mutation_p.E2348K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2458	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCGTGGCCTCCTGCACCGCC	0.662		NaN											0	0	0	0.000602	0	4	9				
CYC1	1537	broad.mit.edu	37	8	145151087	145151087	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145151087C>T	uc003zaz.3	+	3	430	c.387C>T	c.(385-387)TTC>TTT	p.F129F	CYC1_uc003zay.2_Silent_p.F70F	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	129	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGACTTCGTGGCCTACC	0.612		NaN									OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	46	202				
GPR172A	79581	broad.mit.edu	37	8	145583548	145583548	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145583548C>T	uc003zcc.1	+	3	553	c.396C>T	c.(394-396)TTC>TTT	p.F132F	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.F132F|GPR172A_uc003zce.1_Silent_p.F132F|GPR172A_uc010mfy.1_Silent_p.F132F|GPR172A_uc003zcf.1_Silent_p.F132F|GPR172A_uc011llc.1_Silent_p.F44F	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	132	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ATGTCACTTTCCTGCCCTTCT	0.602		NaN											0	0	0	0.007835	0	38	121				
ADCK5	203054	broad.mit.edu	37	8	145616165	145616165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145616165G>A	uc003zch.2	+	5	506	c.452G>A	c.(451-453)GGG>GAG	p.G151E	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	151						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGGGCCAGGGGCTGTGCTCC	0.662		NaN											0	0	0	0.013537	0	11	39				
FOXH1	8928	broad.mit.edu	37	8	145700598	145700598	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145700598T>C	uc003zdc.2	-	2	800	c.221A>G	c.(220-222)TAC>TGC	p.Y74C		NM_003923	NP_003914	O75593	FOXH1_HUMAN	forkhead box H1	74	Fork-head.				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCAGCCCTCGTAGTCTTCCCT	0.682		NaN											0	0	0	0.000602	0	5	17				
ZNF251	90987	broad.mit.edu	37	8	145947214	145947214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145947214G>T	uc003zdv.3	-	5	2087	c.1831C>A	c.(1831-1833)CAA>AAA	p.Q611K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	611	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACCTGATGTTGAATAAGGGTT	0.478		NaN											1	0	3.05275e-18	0.013114	3.22672e-18	48	33				
SMARCA2	6595	broad.mit.edu	37	9	2060921	2060921	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060921C>T	uc003zhc.2	+	9	1726	c.1627C>T	c.(1627-1629)CTG>TTG	p.L543L	SMARCA2_uc003zhd.2_Silent_p.L543L|SMARCA2_uc010mha.2_Silent_p.L534L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	543					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTGACCAATCTGGTTTGGGA	0.413		NaN											0	0	0	0.010729	0	11	56				
SMARCA2	6595	broad.mit.edu	37	9	2060974	2060974	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060974G>T	uc003zhc.2	+	9	1779	c.1680G>T	c.(1678-1680)AGG>AGT	p.R560S	SMARCA2_uc003zhd.2_Missense_Mutation_p.R560S|SMARCA2_uc010mha.2_Missense_Mutation_p.R551S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	560	Poly-Arg.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agaagaggaggaggaggaaga	0.418		NaN											1	0	5.45024e-15	0.00333	5.7246e-15	23	25		Valid		
C9orf68	55064	broad.mit.edu	37	9	4661989	4661989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:4661989G>A	uc011llz.1	-	3	325	c.87C>T	c.(85-87)CTC>CTT	p.L29L	C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Silent_p.L29L|C9orf68_uc011lly.1_5'UTR|C9orf68_uc003zim.2_Silent_p.L29L|PPAPDC2_uc003zin.2_5'Flank	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN	hypothetical protein LOC55064	29											0		Breast(48;0.0456)		GBM - Glioblastoma multiforme(50;0.0222)		GGTAGACCCCGAGGTACACAT	0.438		NaN									OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	50				
KIAA1432	57589	broad.mit.edu	37	9	5745991	5745991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:5745991G>A	uc003zji.2	+	10	1012	c.919G>A	c.(919-921)GAA>AAA	p.E307K	KIAA1432_uc003zjh.2_Missense_Mutation_p.E307K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E307K|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	386						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCAAAACACTGAAATTGAGTC	0.418		NaN											0	0	0	0.01441	0	77	86				
KIAA2026	158358	broad.mit.edu	37	9	6007317	6007317	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6007317G>A	uc003zjq.3	-	1	687	c.471C>T	c.(469-471)TTC>TTT	p.F157F		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	157										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGTCCGCCACGAACTCGGTGA	0.637		NaN											0	0	0	0.003163	0	11	48				
GLDC	2731	broad.mit.edu	37	9	6605254	6605254	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6605254C>T	uc003zkc.2	-	6	931	c.738G>A	c.(736-738)CTG>CTA	p.L246L		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	246					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGGTAACTTCAGCTCAGTGA	0.433		NaN											0	0	0	0.001855	0	14	61				
KDM4C	23081	broad.mit.edu	37	9	7174617	7174617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7174617G>C	uc003zkh.2	+	22	3639	c.3059G>C	c.(3058-3060)AGA>ACA	p.R1020T	KDM4C_uc011lmk.1_Missense_Mutation_p.R765T|KDM4C_uc011lml.1_Missense_Mutation_p.R707T	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	1020					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CAAGGGGAGAGAAAGAGACAA	0.458		NaN											0	0	0	0.01441	0	142	57				
C9orf123	90871	broad.mit.edu	37	9	7799696	7799696	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7799696G>A	uc003zki.2	-	1	83	c.39C>T	c.(37-39)ATC>ATT	p.I13I	C9orf123_uc003zkj.2_Silent_p.I13I			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	13						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		GAGGCGCAGTGATATAGGACT	0.637		NaN											0	0	0	0.008871	0	21	7				
MPDZ	8777	broad.mit.edu	37	9	13143491	13143491	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:13143491C>T	uc010mia.1	-	26	3871	c.3814G>A	c.(3814-3816)GAC>AAC	p.D1272N	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.D1272N|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Missense_Mutation_p.D1272N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1272					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTAGAGAGTCAGCAAATGGG	0.428		NaN											0	0	0	0.01441	0	82	52				
DNAJA1	3301	broad.mit.edu	37	9	33026956	33026956	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33026956G>A	uc003zsd.1	+	3	461	c.278G>A	c.(277-279)GGA>GAA	p.G93E	DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Missense_Mutation_p.G93E|APTX_uc003zrz.2_5'Flank	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	93	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		ATGTTTTTTGGAGGAGGAGGA	0.438		NaN											0	0	0	0.01441	0	60	32				
BAG1	573	broad.mit.edu	37	9	33264454	33264454	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33264454C>T	uc003zsj.2	-	1	308	c.219G>A	c.(217-219)AAG>AAA	p.K73K	SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'UTR|BAG1_uc003zsk.2_5'UTR|CHMP5_uc003zsl.3_5'UTR|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank	NM_004323	NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene isoform 1L	73	Arg-rich.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGTTTTCTTCTTCATCCGCG	0.701		NaN											0	0	0	0.00499	0	16	16				
DCAF12	25853	broad.mit.edu	37	9	34125197	34125197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34125197G>A	uc003ztt.2	-	2	499	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53						centrosome|CUL4 RING ubiquitin ligase complex					0						CTGACTTCCCGGTTCTTCAAG	0.453		NaN											0	0	0	0.01441	0	75	56				
CCL21	6366	broad.mit.edu	37	9	34709845	34709845	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34709845C>G	uc003zvo.2	-	2	201	c.117G>C	c.(115-117)AAG>AAC	p.K39N		NM_002989	NP_002980	O00585	CCL21_HUMAN	small inducible cytokine A21 precursor	39					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity				0	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGCGGGAATCTTCCTTTGGC	0.592		NaN											0	0	0	0.01441	0	61	23				
CREB3	10488	broad.mit.edu	37	9	35732998	35732998	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:35732998G>A	uc003zxv.2	+	2	588	c.135G>A	c.(133-135)CCG>CCA	p.P45P	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_5'UTR	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	45	Cytoplasmic (Potential).|Transcription activation (acidic).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGCAGGTACCGAGCGACTGGG	0.562		NaN											0	0	0	0.01441	0	79	38				
ZBTB5	9925	broad.mit.edu	37	9	37441574	37441574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37441574C>T	uc003zzx.2	-	2	1175	c.975G>A	c.(973-975)ATG>ATA	p.M325I		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCACCACTCTCATGTGCTCCT	0.507		NaN											0	0	0	0.009535	0	28	169				
DCAF10	79269	broad.mit.edu	37	9	37842126	37842126	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37842126A>T	uc004aao.2	+	3	768	c.694A>T	c.(694-696)ACT>TCT	p.T232S	DCAF10_uc010mlz.2_Missense_Mutation_p.T59S	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	232	WD 2.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						CTCTGATGACACTACAATAGC	0.358		NaN											0	0	0	0.01441	0	97	49				
PTAR1	375743	broad.mit.edu	37	9	72349085	72349085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72349085G>A	uc004ahj.3	-	4	431	c.409C>T	c.(409-411)CCA>TCA	p.P137S	PTAR1_uc004ahi.2_Missense_Mutation_p.P58S	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	137	PFTA 2.				protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						CATGTTTCTGGACTCTTTGGA	0.388		NaN											0	0	0	0.013726	0	35	40				
SMC5	23137	broad.mit.edu	37	9	72930468	72930468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72930468G>A	uc004ahr.2	+	13	1897	c.1780G>A	c.(1780-1782)GAA>AAA	p.E594K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	594	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TGTAGGAACTGAAAAGACCAG	0.353		NaN											0	0	0	0.01441	0	50	49				
ALDH1A1	216	broad.mit.edu	37	9	75567869	75567869	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:75567869C>T	uc004ajd.2	-	1	101	c.48G>A	c.(46-48)TTG>TTA	p.L16L	ALDH1A1_uc011lsh.1_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	16					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTGAATCTTCAAATCGGTGA	0.403		NaN											0	0	0	0.003954	0	23	44				
TRPM6	140803	broad.mit.edu	37	9	77354857	77354857	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77354857A>G	uc004ajl.1	-	34	5507	c.5269T>C	c.(5269-5271)TCT>CCT	p.S1757P	TRPM6_uc004ajk.1_Missense_Mutation_p.S1752P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S708P|TRPM6_uc010mpd.1_Missense_Mutation_p.S590P|TRPM6_uc010mpe.1_Missense_Mutation_p.S304P|TRPM6_uc004ajj.1_Missense_Mutation_p.S713P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1757	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGAGACCAAGAGGACATGCTT	0.493		NaN											0	0	0	0.004878	0	37	50				
OSTF1	26578	broad.mit.edu	37	9	77732450	77732450	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77732450C>T	uc004ajv.3	+	2	276	c.65C>T	c.(64-66)ACG>ATG	p.T22M	OSTF1_uc004ajw.3_Intron|OSTF1_uc004ajx.3_Missense_Mutation_p.T25M	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	22	SH3.				ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1						GCCCTGTATACGTTTGAACCC	0.254		NaN											0	0	0	0.00245	0	14	96				
GNA14	9630	broad.mit.edu	37	9	80262634	80262634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262634G>A	uc004aku.2	-	1	599	c.76C>T	c.(76-78)CGT>TGT	p.R26C		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	26					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TTGTCCCGACGAAGCTGTCGC	0.657		NaN											0	0	0	0.009096	0	3	9				
GNA14	9630	broad.mit.edu	37	9	80262682	80262682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262682C>T	uc004aku.2	-	1	551	c.28G>A	c.(28-30)GAG>AAG	p.E10K		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	10					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCCTTCTCCTCCGCGGACAGG	0.701		NaN											0	0	0	0.000602	0	4	7				
TLE1	7088	broad.mit.edu	37	9	84202699	84202699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:84202699G>C	uc004aly.2	-	17	2315	c.1874C>G	c.(1873-1875)TCT>TGT	p.S625C	TLE1_uc004alz.2_Missense_Mutation_p.S635C|TLE1_uc011lsr.1_Missense_Mutation_p.S610C	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	625	WD 4.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GCCATCATTAGAAATGTCAAT	0.532		NaN											0	0	0	0.013114	0	47	23				
HNRNPK	3190	broad.mit.edu	37	9	86587870	86587870	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86587870G>C	uc004ang.3	-	10	758	c.534C>G	c.(532-534)ATC>ATG	p.I178M	HNRNPK_uc011lsw.1_Translation_Start_Site|HNRNPK_uc004and.3_Translation_Start_Site|HNRNPK_uc004ank.3_Missense_Mutation_p.I178M|HNRNPK_uc004anf.3_Missense_Mutation_p.I178M|HNRNPK_uc004anh.3_Missense_Mutation_p.I154M|HNRNPK_uc011lsx.1_Missense_Mutation_p.I154M|HNRNPK_uc004ani.3_Missense_Mutation_p.I178M|HNRNPK_uc004anj.3_Missense_Mutation_p.I178M|HNRNPK_uc004ann.3_Missense_Mutation_p.I154M|HNRNPK_uc004anl.3_Missense_Mutation_p.I178M|HNRNPK_uc004anm.3_Missense_Mutation_p.I178M	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	178	5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.|KH 2.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						GGAAAAGCTTGATGGTGGTTT	0.353		NaN											0	0	0	0.010504	0	21	95				
SLC28A3	64078	broad.mit.edu	37	9	86912168	86912168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86912168C>T	uc010mpz.2	-	8	954	c.829G>A	c.(829-831)GAG>AAG	p.E277K	SLC28A3_uc011lsy.1_Missense_Mutation_p.E208K|SLC28A3_uc004anu.1_Missense_Mutation_p.E277K|SLC28A3_uc010mqb.2_Missense_Mutation_p.E208K	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	277	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TTGTATTTCTCACCAAAGACA	0.373		NaN											0	0	0	0.01441	0	52	43				
ZCCHC6	79670	broad.mit.edu	37	9	88958054	88958054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:88958054G>A	uc004aoq.2	-	6	1237	c.1022C>T	c.(1021-1023)TCA>TTA	p.S341L	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aov.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aow.2_Missense_Mutation_p.S341L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	341					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GCTACAGGATGACCCATATAA	0.299		NaN											0	0	0	0.00632	0	30	88				
C9orf79	286234	broad.mit.edu	37	9	90500387	90500387	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:90500387C>T	uc004app.3	+	4	1020	c.985C>T	c.(985-987)CGG>TGG	p.R329W	C9orf79_uc004apo.1_Missense_Mutation_p.R141W	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	329						integral to membrane				ovary(3)	3						ATCCCAGCCACGGCATCTTCC	0.617		NaN											0	0	0	0.010504	0	18	10				
SEMA4D	10507	broad.mit.edu	37	9	91994364	91994364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:91994364G>A	uc004aqo.1	-	18	2416	c.1844C>T	c.(1843-1845)TCA>TTA	p.S615L	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S613L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	615	Ig-like C2-type.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GTCTCCTTCTGACAAGTTGAA	0.527		NaN											0	0	0	0.01441	0	302	175				
GADD45G	10912	broad.mit.edu	37	9	92220696	92220696	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:92220696C>T	uc004aqq.2	+	3	380	c.270C>T	c.(268-270)ATC>ATT	p.I90I	GADD45G_uc004aqr.2_Silent_p.I72I	NM_006705	NP_006696	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	90					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding				0						AGAACGACATCGACATAGTGC	0.647		NaN											0	0	0	0.001855	0	13	33				
BICD2	23299	broad.mit.edu	37	9	95482795	95482795	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:95482795G>C	uc004aso.1	-	4	906	c.849C>G	c.(847-849)CTC>CTG	p.L283L	BICD2_uc004asp.1_Silent_p.L283L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	283					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CACTGAACTTGAGGCCATCCA	0.577		NaN											0	0	0	0.00874	0	43	35				
WNK2	65268	broad.mit.edu	37	9	96024958	96024958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96024958G>A	uc004ati.1	+	13	3367	c.3367G>A	c.(3367-3369)GCC>ACC	p.A1123T	WNK2_uc011lud.1_Missense_Mutation_p.A1123T|WNK2_uc004atj.2_Missense_Mutation_p.A1123T|WNK2_uc004atk.2_Missense_Mutation_p.A760T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1123					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TCAGGAGCAGGCCTCACAGGA	0.637		NaN											0	0	0	0.001984	0	6	29				
BARX1	56033	broad.mit.edu	37	9	96714549	96714549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96714549G>C	uc010mrh.2	-	4	842	c.662C>G	c.(661-663)TCA>TGA	p.S221*	BARX1_uc004aud.2_Nonsense_Mutation_p.S67*	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGTTGGAATTGAGTTCTTCTT	0.687		NaN											0	0	0	0.000602	0	5	16				
C9orf156	51531	broad.mit.edu	37	9	100672824	100672824	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:100672824C>T	uc004axv.1	-	4	561	c.484G>A	c.(484-486)GAG>AAG	p.E162K	C9orf156_uc004axw.1_Missense_Mutation_p.E59K|C9orf156_uc004axx.1_Missense_Mutation_p.E16K|C9orf156_uc010msq.1_Missense_Mutation_p.E59K	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	162					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				GAGTCATACTCAGCTATGTAG	0.413		NaN											0	0	0	0.011902	0	44	28				
COL15A1	1306	broad.mit.edu	37	9	101767278	101767278	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101767278C>A	uc004azb.1	+	9	1505	c.1299C>A	c.(1297-1299)CCC>CCA	p.P433P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	433	Nonhelical region 1 (NC1).|4 X tandem repeats.|2.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GTGTGGCCCCCGGGGAGCTGG	0.627		NaN											1	0	0.004672	0.004672	0.0047375	3	70				
ALG2	85365	broad.mit.edu	37	9	101980576	101980576	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101980576C>T	uc004azf.2	-	2	961	c.891G>A	c.(889-891)GTG>GTA	p.V297V	ALG2_uc004azg.2_Silent_p.V204V	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	297					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				TCAAGAAGGTCACATACTGGC	0.478		NaN											0	0	0	0.012319	0	22	90				
CYLC2	1539	broad.mit.edu	37	9	105767772	105767772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:105767772G>A	uc004bbs.2	+	5	929	c.859G>A	c.(859-861)GAT>AAT	p.D287N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	287	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				CTCAAAGGATgatgtcaagaa	0.234		NaN											0	0	0	0.007413	0	20	20				
ABCA1	19	broad.mit.edu	37	9	107588035	107588035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:107588035G>A	uc004bcl.2	-	17	2784	c.2471C>T	c.(2470-2472)TCG>TTG	p.S824L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	824					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATGGAGACCGAAGTGGTGAG	0.498		NaN											0	0	0	0.01441	0	74	35				
KIAA0368	23392	broad.mit.edu	37	9	114195538	114195538	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:114195538C>T	uc004bfe.1	-	9	1357	c.1357G>A	c.(1357-1359)GAC>AAC	p.D453N	KIAA0368_uc010muc.1_Missense_Mutation_p.D275N	NM_001080398	NP_001073867			KIAA0368 protein												0						AATTCCAGGTCTGCTGCCGTT	0.413		NaN											0	0	0	0.008871	0	18	81				
C9orf43	257169	broad.mit.edu	37	9	116187324	116187324	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116187324G>T	uc004bho.3	+	9	1229	c.833G>T	c.(832-834)CGT>CTT	p.R278L	C9orf43_uc004bhp.2_Missense_Mutation_p.R278L	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	278											0						TATCCTGAACGTTTGAAGAAA	0.408		NaN											1	0	6.57855e-14	0.009718	6.89635e-14	43	46				
COL27A1	85301	broad.mit.edu	37	9	116925054	116925054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116925054G>A	uc011lxl.1	+	2	122	c.122G>A	c.(121-123)GGA>GAA	p.G41E		NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	41					cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCCACCCAAGGAGCTCCTGAA	0.557		NaN											0	0	0	0.01441	0	80	61				
ATP6V1G1	9550	broad.mit.edu	37	9	117359915	117359915	+	Silent	SNP	C	C	T	rs112425042		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:117359915C>T	uc004bjc.2	+	3	374	c.249C>T	c.(247-249)ATC>ATT	p.I83I		NM_004888	NP_004879	O75348	VATG1_HUMAN	vacuolar H+ ATPase G1	83					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances				0						AGATGACCATCCTCCAGACAT	0.512		NaN											0	0	0	0.00278	0	22	71				
CEP110	11064	broad.mit.edu	37	9	123924225	123924225	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:123924225G>A	uc004bkx.1	+	31	5212	c.5181G>A	c.(5179-5181)GAG>GAA	p.E1727E	CEP110_uc004blb.1_Silent_p.E396E|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1727	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						CTGAATTAGAGAAGACTCAGG	0.388		NaN											0	0	0	0.01441	0	57	52				
RBM18	92400	broad.mit.edu	37	9	125023758	125023758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:125023758G>A	uc004bma.2	-	2	180	c.14C>T	c.(13-15)ACC>ATC	p.T5I	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	5							nucleotide binding|RNA binding				0						AAGAGTTTTGGTTTCTGCTTC	0.448		NaN											0	0	0	0.005524	0	38	27				
PPP6C	5537	broad.mit.edu	37	9	127915852	127915852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:127915852C>T	uc004bpg.3	-	6	850	c.629G>A	c.(628-630)CGA>CAA	p.R210Q	PPP6C_uc010mwv.2_Missense_Mutation_p.R247Q|PPP6C_uc010mww.2_Missense_Mutation_p.R188Q|PPP6C_uc011lzr.1_Missense_Mutation_p.R63Q	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	210					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						ACCTGCTCCTCGGGGACTGAT	0.443		NaN											0	0	0	0.006214	0	10	71				
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130027210G>A	uc011mae.1	+	1	455	c.54G>A	c.(52-54)CTG>CTA	p.L18L	GARNL3_uc011mad.1_Intron	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTATAATACTGATGAAGCATT	0.453		NaN											0	0	0	0.011902	0	45	179				
GARNL3	84253	broad.mit.edu	37	9	130083018	130083018	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130083018G>A	uc011mae.1	+	6	929	c.528G>A	c.(526-528)GAG>GAA	p.E176E	GARNL3_uc011mad.1_Silent_p.E154E	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	176					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAAATTTGAGAAAGGCCCCA	0.358		NaN											0	0	0	0.004482	0	8	62				
ENG	2022	broad.mit.edu	37	9	130592029	130592029	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130592029G>A	uc004bsj.3	-	3	710	c.297C>T	c.(295-297)CTC>CTT	p.L99L	ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.L99L	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	99	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						TGTTTACACTGAGGACCAGAA	0.602		NaN							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.004482	0	8	31				
DNM1	1759	broad.mit.edu	37	9	130981398	130981398	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130981398C>T	uc011mau.1	+	4	543	c.456C>T	c.(454-456)ATC>ATT	p.I152I	DNM1_uc010mxr.2_Silent_p.I152I|DNM1_uc011mat.1_Silent_p.I152I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	152					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						CTCCCGACATCGAGTTCCAGA	0.617		NaN											0	0	0	0.003755	0	37	115				
GOLGA2	2801	broad.mit.edu	37	9	131019547	131019547	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131019547C>T	uc011maw.1	-	26	2821	c.2808G>A	c.(2806-2808)GTG>GTA	p.V936V	GOLGA2_uc010mxw.2_Silent_p.V259V|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	936						Golgi cisterna membrane	protein binding			ovary(1)	1						CGGCGAGGCTCACCTCGCAAA	0.637		NaN											0	0	0	0.00874	0	33	22				
CERCAM	51148	broad.mit.edu	37	9	131197963	131197963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131197963G>A	uc004buz.3	+	12	1965	c.1567G>A	c.(1567-1569)GAC>AAC	p.D523N	CERCAM_uc004buy.1_Missense_Mutation_p.D445N|CERCAM_uc010mxz.2_Missense_Mutation_p.D445N	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	523					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						CTGGCCACGGGACCTGGTGGC	0.657		NaN											0	0	0	0.001984	0	7	25				
NUP188	23511	broad.mit.edu	37	9	131749135	131749135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131749135G>A	uc004bws.1	+	22	2267	c.2245G>A	c.(2245-2247)GAG>AAG	p.E749K	NUP188_uc004bwu.2_Missense_Mutation_p.E92K	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	749					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCTGTGCCACGAGACAGACCT	0.507		NaN											0	0	0	0.013537	0	12	102				
DOLPP1	57171	broad.mit.edu	37	9	131843464	131843464	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131843464C>T	uc004bxc.2	+	1	82	c.54C>T	c.(52-54)CTC>CTT	p.L18L	DOLPP1_uc004bxd.2_Silent_p.L18L|DOLPP1_uc004bxe.2_RNA	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	18					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						CGGTGACCCTCACCCACGTCG	0.682		NaN											0	0	0	0.010729	0	8	38				
EXOSC2	23404	broad.mit.edu	37	9	133569207	133569207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133569207C>T	uc004bzu.2	+	1	50	c.29C>T	c.(28-30)GCT>GTT	p.A10V	EXOSC2_uc011mbz.1_Missense_Mutation_p.A10V|EXOSC2_uc011mca.1_RNA	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	exosome component 2	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTTCCAGTGGCTCGCAAGCCT	0.587		NaN											0	0	0	0.001984	0	5	12				
FIBCD1	84929	broad.mit.edu	37	9	133799256	133799256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133799256G>A	uc004bzz.2	-	4	969	c.724C>T	c.(724-726)CGA>TGA	p.R242*	FIBCD1_uc011mcc.1_Nonsense_Mutation_p.R242*	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	242	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGACAGTCTCGGGGCCGGGAG	0.632		NaN											0	0	0	0.004007	0	13	33				
BAT2L1	84726	broad.mit.edu	37	9	134340375	134340375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:134340375G>A	uc004can.3	+	11	1685	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	BAT2L1_uc010mzj.1_Missense_Mutation_p.E127K	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	544	Potential.						protein binding				0						AAAGGCAGGTGAGGCCCGGAA	0.612		NaN											0	0	0	0.000602	0	5	30				
GTF3C5	9328	broad.mit.edu	37	9	135906463	135906463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:135906463G>A	uc004cci.3	+	1	402	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	22						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721		NaN											0	0	0	0.000602	0	5	15				
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136226921C>T	uc004cdi.2	+	4	481	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_017503	NP_059973	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627		NaN											0	0	0	0.008871	0	19	11				
DBH	1621	broad.mit.edu	37	9	136507542	136507542	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136507542A>G	uc004cel.2	+	3	709	c.700A>G	c.(700-702)ATT>GTT	p.I234V		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	234	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTGGTGCTACATTAAGGAGCT	0.607		NaN											0	0	0	0.010729	0	12	10				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:137328351C>T	uc004cfb.2	+	10	1442	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	RXRA_uc004cfc.1_Missense_Mutation_p.S330F	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											0	0	0	0.01441	0	50	44		Valid		
SOHLH1	402381	broad.mit.edu	37	9	138590901	138590901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138590901G>A	uc004cgl.2	-	2	198	c.137C>T	c.(136-138)ACG>ATG	p.T46M	SOHLH1_uc010nbe.2_Missense_Mutation_p.T46M	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	46					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CTCGGCCACCGTAGGGGCCTT	0.711		NaN											0	0	0	0.004482	0	8	12				
KCNT1	57582	broad.mit.edu	37	9	138662868	138662868	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138662868G>A	uc011mdq.1	+	18	2009	c.1935G>A	c.(1933-1935)AAG>AAA	p.K645K	KCNT1_uc011mdr.1_Silent_p.K472K|KCNT1_uc010nbf.2_Silent_p.K600K|KCNT1_uc004cgo.1_Silent_p.K394K	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	645						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCGGAAGAAGAGGGCCTTCT	0.652		NaN											0	0	0	0.013537	0	13	5				
CAMSAP1	157922	broad.mit.edu	37	9	138713633	138713633	+	Silent	SNP	G	G	A	rs138126670		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138713633G>A	uc004cgr.3	-	11	2874	c.2874C>T	c.(2872-2874)CTC>CTT	p.L958L	CAMSAP1_uc004cgq.3_Silent_p.L848L|CAMSAP1_uc010nbg.2_Silent_p.L680L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	958						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTCCTTCACGAGAAAGTCTT	0.562		NaN											0	0	0	0.01441	0	115	41				
MAMDC4	158056	broad.mit.edu	37	9	139748504	139748504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139748504G>A	uc004cjs.2	+	6	696	c.646G>A	c.(646-648)GAG>AAG	p.E216K	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	216	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGATGACCTAGAGTTCTGGGA	0.627		NaN											0	0	0	0.007413	0	16	71				
ABCA2	20	broad.mit.edu	37	9	139907259	139907259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139907259C>T	uc011mem.1	-	30	5131	c.4983G>A	c.(4981-4983)CAG>CAA	p.Q1661Q	ABCA2_uc011mel.1_Silent_p.Q1662Q|ABCA2_uc004ckl.1_Silent_p.Q1592Q|ABCA2_uc004ckm.1_Silent_p.Q1692Q|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1661					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCACCCGCATCTGGGGCGGGT	0.687		NaN											0	0	0	0.010729	0	8	8				
SSNA1	8636	broad.mit.edu	37	9	140083657	140083657	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140083657G>A	uc004cls.2	+	2	317	c.192G>A	c.(190-192)AAG>AAA	p.K64K	ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	NM_003731	NP_003722	O43805	SSNA1_HUMAN	nuclear autoantigen of 14 kDa	64	Potential.				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TGGCACGCAAGATTGCCTCTC	0.642		NaN											0	0	0	0.000602	0	4	25				
NRARP	441478	broad.mit.edu	37	9	140196323	140196323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140196323C>T	uc004cmo.2	-	1	381	c.58G>A	c.(58-60)GAG>AAG	p.E20K	C9orf167_uc011mew.1_Intron	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	20					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway						0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGCACAGCCTCCTGGAAGATG	0.517		NaN											0	0	0	0.001168	0	6	40				
MRPL41	64975	broad.mit.edu	37	9	140446923	140446923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140446923C>T	uc004cnh.3	+	2	520	c.390C>T	c.(388-390)CTC>CTT	p.L130L	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	130					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TCTTCCAGCTCTACCCCAGGA	0.557		NaN											0	0	0	0.014323	0	23	16				
IL3RA	3563	broad.mit.edu	37	X	1484114	1484114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:1484114C>G	uc004cps.2	+	9	1192	c.843C>G	c.(841-843)TTC>TTG	p.F281L	IL3RA_uc011mhd.1_Missense_Mutation_p.F203L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	281	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTATGAATTCTTGAGCGCCT	0.413		NaN											0	0	0	0.008871	0	18	30				
WWC3	55841	broad.mit.edu	37	X	10104698	10104698	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:10104698C>T	uc004csx.3	+	20	2987	c.2789C>T	c.(2788-2790)TCA>TTA	p.S930L	WWC3_uc010nds.2_Missense_Mutation_p.S594L|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	930										ovary(4)	4						AGCGACAGTTCAACGCTGCCC	0.443		NaN											0	0	0	0.001855	0	13	32				
HCCS	3052	broad.mit.edu	37	X	11130276	11130276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:11130276G>A	uc004cuk.2	+	2	362	c.96G>A	c.(94-96)ATG>ATA	p.M32I	uc004cui.1_5'Flank|HCCS_uc004cuj.2_Missense_Mutation_p.M32I|HCCS_uc004cul.1_Missense_Mutation_p.M32I	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	32					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						AAGGGAAAATGAAAGGTAATC	0.353		NaN											0	0	0	0.001855	0	13	22				
TLR7	51284	broad.mit.edu	37	X	12906158	12906158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:12906158C>A	uc004cvc.2	+	3	2670	c.2531C>A	c.(2530-2532)TCA>TAA	p.S844*		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	844	Helical; (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	ATTCTGTTCTCACTTTCCATA	0.453		NaN											1	0	6.73184e-63	0.01441	7.16434e-63	144	34				
ZRSR2	8233	broad.mit.edu	37	X	15809081	15809081	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:15809081G>A	uc004cxg.3	+	2	111	c.66G>A	c.(64-66)CTG>CTA	p.L22L		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	22					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					GGGCCGCCCTGAAGAAGGAGA	0.512		NaN											0	0	0	0.004007	0	15	4				
GPR64	10149	broad.mit.edu	37	X	19032082	19032082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19032082G>C	uc004cyx.2	-	16	985	c.821C>G	c.(820-822)CCC>CGC	p.P274R	GPR64_uc004cyy.2_Missense_Mutation_p.P271R|GPR64_uc004cyz.2_Missense_Mutation_p.P260R|GPR64_uc004czb.2_Missense_Mutation_p.P274R|GPR64_uc004czc.2_Missense_Mutation_p.P258R|GPR64_uc004czd.2_Missense_Mutation_p.P250R|GPR64_uc004cze.2_Missense_Mutation_p.P244R|GPR64_uc004czf.2_Missense_Mutation_p.P236R|GPR64_uc004cza.2_Missense_Mutation_p.P252R|GPR64_uc004cyw.2_Missense_Mutation_p.P258R|GPR64_uc010nfj.2_Missense_Mutation_p.P244R	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	274	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GGTAGCTTTGGGGACCTGGGA	0.542		NaN											0	0	0	0.00278	0	21	30				
MAP3K15	389840	broad.mit.edu	37	X	19413274	19413274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19413274G>A	uc004czk.1	-	17	2181	c.544C>T	c.(544-546)CGC>TGC	p.R182C	MAP3K15_uc004czj.1_Missense_Mutation_p.R142C	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	707	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					ACGATATTGCGGTGCTTAAGG	0.453		NaN											0	0	0	0.007835	0	41	64				
MAOA	4128	broad.mit.edu	37	X	43587477	43587477	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:43587477C>A	uc004dfy.2	+	6	742	c.561C>A	c.(559-561)CAC>CAA	p.H187Q	MAOA_uc011mkw.1_Missense_Mutation_p.H54Q	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	187	Cytoplasmic.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CTGAGCCTCACGAAGTGTCTG	0.478		NaN											1	0	1.22674e-20	0.00874	1.29792e-20	43	101				
CXorf36	79742	broad.mit.edu	37	X	45017019	45017019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:45017019G>A	uc004dgg.2	-	3	688	c.613C>T	c.(613-615)CGT>TGT	p.R205C		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	205						extracellular region				lung(1)	1						AGCTTGTCACGGTCGGTGAAG	0.632		NaN											0	0	0	0.009096	0	3	8				
CDK16	5127	broad.mit.edu	37	X	47083090	47083090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083090G>A	uc004dho.2	+	2	530	c.134G>A	c.(133-135)GGA>GAA	p.G45E	CDK16_uc011mli.1_Missense_Mutation_p.G51E|CDK16_uc011mlj.1_Missense_Mutation_p.G45E|CDK16_uc011mlk.1_Missense_Mutation_p.G45E|CDK16_uc011mll.1_Missense_Mutation_p.G119E	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	45							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						AGTGACCCTGGAGAGGCCCCC	0.622		NaN											0	0	0	0.004482	0	8	2				
CDK16	5127	broad.mit.edu	37	X	47083092	47083092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083092G>A	uc004dho.2	+	2	532	c.136G>A	c.(136-138)GAG>AAG	p.E46K	CDK16_uc011mli.1_Missense_Mutation_p.E52K|CDK16_uc011mlj.1_Missense_Mutation_p.E46K|CDK16_uc011mlk.1_Missense_Mutation_p.E46K|CDK16_uc011mll.1_Missense_Mutation_p.E120K	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	46							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						TGACCCTGGAGAGGCCCCCAC	0.627		NaN											0	0	0	0.004482	0	8	2				
CDK16	5127	broad.mit.edu	37	X	47083915	47083915	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083915G>A	uc004dho.2	+	3	730	c.334G>A	c.(334-336)GAG>AAG	p.E112K	CDK16_uc011mli.1_Missense_Mutation_p.E118K|CDK16_uc011mlj.1_Missense_Mutation_p.E112K|CDK16_uc011mlk.1_Missense_Mutation_p.E112K|CDK16_uc011mll.1_Missense_Mutation_p.E186K	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	112							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GATCTCCACTGAGGTGCTTGA	0.577		NaN											0	0	0	0.005443	0	27	3				
TFE3	7030	broad.mit.edu	37	X	48891000	48891000	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:48891000G>C	uc004dmb.3	-	8	1354	c.1116C>G	c.(1114-1116)CTC>CTG	p.L372L	TFE3_uc004dmc.3_Silent_p.L267L|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	372	Helix-loop-helix motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						ACTTAGGGATGAGAGTGCCCA	0.567		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								0	0	0	0.001984	0	7	17				
CACNA1F	778	broad.mit.edu	37	X	49079298	49079298	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:49079298C>T	uc004dnb.2	-	16	2181	c.2119_splice	c.e16-1	p.I707_splice	CACNA1F_uc010nip.2_Splice_Site_p.I696_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CTGTCAGGATCTGGGGGTGGG	0.547		NaN											0	0	0	0.007413	0	18	26				
CCNB3	85417	broad.mit.edu	37	X	50052841	50052841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50052841G>A	uc004dox.3	+	6	1970	c.1672G>A	c.(1672-1674)GAA>AAA	p.E558K	CCNB3_uc004doy.2_Missense_Mutation_p.E558K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	558					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TATGATTGGTGAAGATAAGAA	0.378		NaN											0	0	0	0.008361	0	31	9				
SHROOM4	57477	broad.mit.edu	37	X	50370665	50370665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50370665C>G	uc004dpe.2	-	5	2932	c.2906G>C	c.(2905-2907)GGG>GCG	p.G969A	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	969					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					CCATTTGTCCCCAGGAAATTC	0.493		NaN											0	0	0	0.006122	0	19	18				
FGD1	2245	broad.mit.edu	37	X	54473866	54473866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:54473866C>T	uc004dtg.2	-	17	3192	c.2458G>A	c.(2458-2460)GAG>AAG	p.E820K		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	820					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGCTGTTCTCTGCAGCCACT	0.537		NaN											0	0	0	0.007413	0	18	3				
PAGE5	90737	broad.mit.edu	37	X	55247849	55247849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:55247849G>A	uc004duj.2	+	2	336	c.94G>A	c.(94-96)GAA>AAA	p.E32K	PAGE5_uc004duk.2_Missense_Mutation_p.E12K	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 isoform 1	32											0						CCAATCCTCAGAAAGAGGAAA	0.328		NaN											0	0	0	0.007413	0	19	24				
ZXDA	7789	broad.mit.edu	37	X	57935505	57935505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:57935505G>A	uc004dve.2	-	1	1563	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	450	C2H2-type 7.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGTCACAAAGGAAAGGTCTCT	0.512		NaN											0	0	0	0.010504	0	17	24				
MED12	9968	broad.mit.edu	37	X	70355032	70355032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:70355032G>A	uc004dyy.2	+	36	5153	c.4954G>A	c.(4954-4956)GAG>AAG	p.E1652K	MED12_uc011mpq.1_Missense_Mutation_p.E1652K|MED12_uc004dyz.2_Missense_Mutation_p.E1652K|MED12_uc004dza.2_Missense_Mutation_p.E1499K|MED12_uc010nla.2_Missense_Mutation_p.E278K	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1652	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CATCACGTGTGAGCCACAGGG	0.562		NaN											0	0	0	0.008871	0	21	1				
RPS4X	6191	broad.mit.edu	37	X	71494972	71494972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494972C>T	uc004ear.2	-	4	387	c.291G>A	c.(289-291)GAG>GAA	p.E97E	RPS4X_uc011mqb.1_Silent_p.E97E	NM_001007	NP_000998	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked X isoform	97	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0	Renal(35;0.156)					GACGGAAATTCTCTCCCGTCT	0.483		NaN											0	0	0	0.008291	0	10	6				
RPS4X	6191	broad.mit.edu	37	X	71494974	71494974	+	Missense_Mutation	SNP	C	C	G	rs113141010		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494974C>G	uc004ear.2	-	4	385	c.289G>C	c.(289-291)GAG>CAG	p.E97Q	RPS4X_uc011mqb.1_Missense_Mutation_p.E97Q	NM_001007	NP_000998	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked X isoform	97	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0	Renal(35;0.156)					CGGAAATTCTCTCCCGTCTTG	0.483		NaN											0	0	0	0.008291	0	10	6				
PHKA1	5255	broad.mit.edu	37	X	71846900	71846900	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71846900C>G	uc004eax.3	-	17	2016	c.1715_splice	c.e17-1	p.D572_splice	PHKA1_uc004eay.3_Splice_Site_p.D572_splice|PHKA1_uc011mqi.1_Splice_Site_p.D572_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCATCTTCATCTTGAAATGAA	0.363		NaN											0	0	0	0.00333	0	26	11				
RLIM	51132	broad.mit.edu	37	X	73812835	73812835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:73812835G>A	uc004ebu.2	-	5	605	c.315C>T	c.(313-315)GTC>GTT	p.V105V	RLIM_uc004ebw.2_Silent_p.V105V	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	105					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CAGTTTGTCTGACAGAGTTAA	0.428		NaN											0	0	0	0.00623	0	39	22				
PCDH19	57526	broad.mit.edu	37	X	99661856	99661856	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:99661856G>C	uc010nmz.2	-	1	3416	c.1740C>G	c.(1738-1740)AAC>AAG	p.N580K	PCDH19_uc004efw.3_Missense_Mutation_p.N580K|PCDH19_uc004efx.3_Missense_Mutation_p.N580K	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	580	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CTATGCCAGAGTTGCGGGGTA	0.587		NaN											0	0	0	0.006122	0	17	12				
RNF128	79589	broad.mit.edu	37	X	105937496	105937496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:105937496G>C	uc004emk.2	+	1	429	c.264G>C	c.(262-264)AAG>AAC	p.K88N		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTAATACTAAGAAGCCCTGGA	0.408		NaN											0	0	0	0.008871	0	21	11				
GRIA3	2892	broad.mit.edu	37	X	122561889	122561889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122561889G>C	uc004etq.3	+	13	2268	c.1975G>C	c.(1975-1977)GAG>CAG	p.E659Q	GRIA3_uc004etr.3_Missense_Mutation_p.E659Q|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	659	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	CCTGACTGTGGAGAGGATGGT	0.463		NaN											0	0	0	0.01441	0	51	24				
GRIA3	2892	broad.mit.edu	37	X	122598816	122598816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122598816G>A	uc004etq.3	+	14	2470	c.2177G>A	c.(2176-2178)CGA>CAA	p.R726Q	GRIA3_uc004etr.3_Missense_Mutation_p.R726Q|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	726	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	GCCCGAGTGCGAAAGTCCAAG	0.458		NaN											0	0	0	0.004656	0	24	13				
USP26	83844	broad.mit.edu	37	X	132162129	132162129	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:132162129C>T	uc010nrm.1	-	6	590	c.120G>A	c.(118-120)CTG>CTA	p.L40L	USP26_uc011mvf.1_Silent_p.L40L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	40					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGAAATACAGCACCAGTC	0.353		NaN											0	0	0	0.012319	0	23	17				
FGF13	2258	broad.mit.edu	37	X	138286239	138286239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:138286239C>T	uc004faq.2	-	1	207	c.31G>A	c.(31-33)GAG>AAG	p.E11K	FGF13_uc004far.2_5'UTR|FGF13_uc011mwj.1_Missense_Mutation_p.E11K|FGF13_uc011mwk.1_Missense_Mutation_p.E11K	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCATCTTTCTCCTCTTTGGGC	0.622		NaN											0	0	0	0.008291	0	11	6				
ZNF185	7739	broad.mit.edu	37	X	152137987	152137987	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:152137987C>T	uc010ntv.1	+	21	1967	c.1930C>T	c.(1930-1932)CTA>TTA	p.L644L	ZNF185_uc011myg.1_Silent_p.L676L|ZNF185_uc011myh.1_Silent_p.L647L|ZNF185_uc011myi.1_Silent_p.L615L|ZNF185_uc011myj.1_Silent_p.L585L|ZNF185_uc011myk.1_Silent_p.L645L|ZNF185_uc004fgw.3_Silent_p.L423L|ZNF185_uc004fgu.2_Silent_p.L273L|ZNF185_uc004fgv.2_Silent_p.L341L|ZNF185_uc004fgx.2_Silent_p.L282L	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	644	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATTACCCTAGAACATCT	0.473		NaN											0	0	0	0.004482	0	7	3				
HCFC1	3054	broad.mit.edu	37	X	153223253	153223253	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153223253G>C	uc004fjp.2	-	12	2641	c.2113C>G	c.(2113-2115)CCT>GCT	p.P705A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	705	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCACAGGACCCGTGGAC	0.547		NaN											0	0	0	0.012319	0	19	13				
FLNA	2316	broad.mit.edu	37	X	153580262	153580262	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153580262G>C	uc004fkk.2	-	42	7146	c.6897C>G	c.(6895-6897)GTC>GTG	p.V2299V	FLNA_uc004fki.2_Silent_p.V342V|FLNA_uc011mzn.1_Silent_p.V432V|FLNA_uc010nuu.1_Silent_p.V2291V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2299	Filamin 21.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCTCCTGGACCACATAAG	0.637		NaN											0	0	0	0.004482	0	9	7				
IL9R	3581	broad.mit.edu	37	X	155232652	155232652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:155232652G>A	uc004fnv.1	+	2	289	c.110G>A	c.(109-111)TGC>TAC	p.C37Y	IL9R_uc010nvn.2_Missense_Mutation_p.C16Y|IL9R_uc004fnu.1_Missense_Mutation_p.C84Y	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	37					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCTGTGTCTGCTTGGGAGTC	0.597		NaN											0	0	0	0.00333	0	24	56				
USP9Y	8287	broad.mit.edu	37	Y	14885574	14885574	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885574G>T	uc004fst.1	+	17	2991	c.2046G>T	c.(2044-2046)TGG>TGT	p.W682C	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	682					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						AACAAATATGGAAGTGCTTAG	0.393		NaN											1	0	2.31418e-15	0.01441	2.43303e-15	51	20				
USP9Y	8287	broad.mit.edu	37	Y	14885804	14885804	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885804G>C	uc004fst.1	+	17	3221	c.2276G>C	c.(2275-2277)AGA>ACA	p.R759T	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	759					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						ATAGCAAAAAGAAGATCCTAT	0.353		NaN											0	0	0	0.012319	0	21	8				
USP9Y	8287	broad.mit.edu	37	Y	14885824	14885824	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885824G>T	uc004fst.1	+	17	3241	c.2296G>T	c.(2296-2298)GAT>TAT	p.D766Y	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	766					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TATGATGGATGATTTGGAATT	0.313		NaN											1	0	1.33834e-09	0.007413	1.38957e-09	18	6				
H6PD	9563	broad.mit.edu	37	1	9324830	9324830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:9324830C>T	uc001apt.2	+	5	2551	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	760	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCTGGTGAGCCGGGTGGGCCA	0.637		NaN											0	0	0	0.010729	0	12	30				
ATP13A2	23400	broad.mit.edu	37	1	17313397	17313397	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:17313397C>G	uc001baa.2	-	27	3328	c.3138G>C	c.(3136-3138)GAG>GAC	p.E1046D	ATP13A2_uc001azz.1_Missense_Mutation_p.E193D|ATP13A2_uc001bab.2_Missense_Mutation_p.E1041D|ATP13A2_uc001bac.2_Missense_Mutation_p.E1002D	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1046	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACGGTGTTCTCGTAGTTGG	0.627		NaN											0	0	0	0.00308	0	7	27				
HSPG2	3339	broad.mit.edu	37	1	22176612	22176612	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:22176612C>G	uc001bfj.2	-	57	7408	c.7368G>C	c.(7366-7368)CTG>CTC	p.L2456L	HSPG2_uc009vqd.2_Silent_p.L2457L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2456	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGAGGCAGTTCAGGTCCAGGG	0.662		NaN											0	0	0	0.00623	0	38	86				
KDM1A	23028	broad.mit.edu	37	1	23382467	23382467	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:23382467C>G	uc001bgi.2	+	6	1015	c.866C>G	c.(865-867)TCA>TGA	p.S289*	KDM1A_uc001bgj.2_Nonsense_Mutation_p.S309*	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	289	FAD (Potential).	FAD.			blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						TCTGGGGTCTCAGGCTTGGCA	0.358		NaN											0	0	0	0.01441	0	44	169				
MYOM3	127294	broad.mit.edu	37	1	24392393	24392393	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:24392393G>A	uc001bin.3	-	29	3685	c.3522C>T	c.(3520-3522)CTC>CTT	p.L1174L	MYOM3_uc001bil.3_Silent_p.L67L|MYOM3_uc001bim.3_Silent_p.L831L|MYOM3_uc001bio.2_Silent_p.L1174L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1174	Ig-like C2-type 3.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAATGCAGAGAAGTCCCG	0.562		NaN											0	0	0	0.01441	0	55	138				
ARID1A	8289	broad.mit.edu	37	1	27058057	27058057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:27058057C>T	uc001bmv.1	+	3	2138	c.1765C>T	c.(1765-1767)CAA>TAA	p.Q589*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q206*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	589					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTCCCAGCAAACTGCCTA	0.607		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	81	91		Valid		
MACF1	23499	broad.mit.edu	37	1	39888185	39888185	+	Missense_Mutation	SNP	G	G	A	rs148666575	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39888185G>A	uc010oiu.1	+	23	11407	c.11276G>A	c.(11275-11277)CGA>CAA	p.R3759Q	MACF1_uc010ois.1_Missense_Mutation_p.R3257Q|MACF1_uc001cda.1_Missense_Mutation_p.R3144Q|MACF1_uc001cdc.1_Missense_Mutation_p.R2323Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5324	Spectrin 6.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAATGCTCGATGGAATACA	0.428		NaN											0	0	0	0.014323	0	21	50				
MACF1	23499	broad.mit.edu	37	1	39889764	39889764	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39889764G>C	uc010oiu.1	+	25	11665	c.11534G>C	c.(11533-11535)AGA>ACA	p.R3845T	MACF1_uc010ois.1_Missense_Mutation_p.R3343T|MACF1_uc001cda.1_Missense_Mutation_p.R3230T|MACF1_uc001cdc.1_Missense_Mutation_p.R2409T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5410	Spectrin 7.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGAGGCAGAATAGCCCAG	0.473		NaN											0	0	0	0.004007	0	15	63				
CLDN19	149461	broad.mit.edu	37	1	43205572	43205572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:43205572C>T	uc001cht.1	-	1	354	c.163G>A	c.(163-165)GCC>ACC	p.A55T	CLDN19_uc001chu.2_Missense_Mutation_p.A55T|CLDN19_uc010ojv.1_Missense_Mutation_p.A55T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	55	Extracellular (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGGAGGCGCAGGACATC	0.647		NaN											0	0	0	0.009096	0	4	16				
ATP6V0B	533	broad.mit.edu	37	1	44441505	44441505	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:44441505G>T	uc001cld.2	+	2	212	c.101G>T	c.(100-102)CGC>CTC	p.R34L	ATP6V0B_uc001clc.2_Missense_Mutation_p.R34L|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	34	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TTGGGCTTCCGCTTTGATGTG	0.537		NaN											1	0	1.68136e-41	0.01441	1.90984e-41	77	203				
NRD1	4898	broad.mit.edu	37	1	52305975	52305975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:52305975C>T	uc001ctc.3	-	2	875	c.553G>A	c.(553-555)GAT>AAT	p.D185N	NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Missense_Mutation_p.D185N|NRD1_uc001cte.2_Missense_Mutation_p.D53N|NRD1_uc001ctf.2_Missense_Mutation_p.D185N|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.D53N|NRD1_uc001ctg.1_5'Flank	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						gtatcaagatcatcatcatgt	0.169		NaN											0	0	0	0.006122	0	18	42				
LEPR	3953	broad.mit.edu	37	1	66064359	66064359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:66064359C>T	uc001dci.2	+	8	1068	c.866C>T	c.(865-867)TCA>TTA	p.S289L	LEPR_uc001dcg.2_Missense_Mutation_p.S289L|LEPR_uc001dch.2_Missense_Mutation_p.S289L|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.S289L|LEPR_uc001dck.2_Missense_Mutation_p.S289L	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	289	Extracellular (Potential).|Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGATTGTCTCAGCTACATCC	0.333		NaN											0	0	0	0.010504	0	16	89				
LRRC8D	55144	broad.mit.edu	37	1	90400469	90400469	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:90400469A>G	uc001dnm.2	+	3	2267	c.1842A>G	c.(1840-1842)ACA>ACG	p.T614T	LRRC8D_uc001dnn.2_Silent_p.T614T	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	614	LRR 5.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CACATCTTACAAAGTTAGTCA	0.438		NaN											0	0	0	0.01441	0	44	99				
DNTTIP2	30836	broad.mit.edu	37	1	94343392	94343392	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:94343392C>T	uc001dqf.2	-	2	137	c.99G>A	c.(97-99)GCG>GCA	p.A33A	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443		NaN											0	0	0	0.017118	0	35	27				
VTCN1	79679	broad.mit.edu	37	1	117699368	117699368	+	Silent	SNP	C	C	A	rs115383914	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:117699368C>A	uc001ehb.2	-	3	345	c.273G>T	c.(271-273)TCG>TCT	p.S91S	VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	91	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CATCCTGCTCCGACAGCTCAT	0.458		NaN											1	0	3.99451e-17	0.009535	4.29772e-17	32	94				
PDE4DIP	9659	broad.mit.edu	37	1	144871840	144871840	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144871840G>C	uc001elw.3	-	32	5413	c.5122C>G	c.(5122-5124)CAG>GAG	p.Q1708E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q715E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1708					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AATGGTGCCTGAGGAAGGCTA	0.507		NaN	T	PDGFRB	MPD								0	0	0	0.001984	0	7	168				
PDE4DIP	9659	broad.mit.edu	37	1	144918839	144918839	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144918839C>T	uc001elw.3	-	10	1638	c.1347G>A	c.(1345-1347)TTG>TTA	p.L449L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L515L|PDE4DIP_uc001emc.1_Silent_p.L449L|PDE4DIP_uc001emd.1_Silent_p.L449L|PDE4DIP_uc001emb.1_Silent_p.L612L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L236L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	449	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTGAAGCAACTGCTCCT	0.403		NaN	T	PDGFRB	MPD								0	0	0	0.01441	0	181	732				
HORMAD1	84072	broad.mit.edu	37	1	150675844	150675844	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:150675844G>T	uc001evk.1	-	13	1080	c.974C>A	c.(973-975)TCT>TAT	p.S325Y	HORMAD1_uc001evl.1_Missense_Mutation_p.S318Y|HORMAD1_uc001evm.1_Missense_Mutation_p.S245Y	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	325					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCAAGTTCAGATGTTTTATT	0.274		NaN											1	0	3.09899e-07	0.004482	3.19705e-07	7	45				
PIP5K1A	8394	broad.mit.edu	37	1	151205031	151205031	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205031C>T	uc001exj.2	+	7	943	c.491C>T	c.(490-492)TCC>TTC	p.S164F	PIP5K1A_uc001exi.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S152F|PIP5K1A_uc001exk.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	164	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCAGTATTCCCTCTGCAGT	0.423		NaN											0	0	0	0.016522	0	13	61				
PIP5K1A	8394	broad.mit.edu	37	1	151205035	151205035	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205035C>T	uc001exj.2	+	7	947	c.495C>T	c.(493-495)CTC>CTT	p.L165L	PIP5K1A_uc001exi.2_Silent_p.L152L|PIP5K1A_uc010pcu.1_Silent_p.L153L|PIP5K1A_uc001exk.2_Silent_p.L152L|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	165	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATTCCCTCTGCAGTGAGC	0.428		NaN											0	0	0	0.016522	0	12	57				
PIP5K1A	8394	broad.mit.edu	37	1	151205059	151205059	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205059C>T	uc001exj.2	+	7	971	c.519C>T	c.(517-519)CTC>CTT	p.L173L	PIP5K1A_uc001exi.2_Silent_p.L160L|PIP5K1A_uc010pcu.1_Silent_p.L161L|PIP5K1A_uc001exk.2_Silent_p.L160L|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	173	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGATTGAACTCTGTAGCTCTG	0.458		NaN											0	0	0	0.012213	0	21	65				
PIP5K1A	8394	broad.mit.edu	37	1	151205113	151205113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205113C>G	uc001exj.2	+	7	1025	c.573C>G	c.(571-573)TTC>TTG	p.F191L	PIP5K1A_uc001exi.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.F179L|PIP5K1A_uc001exk.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	191	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGATGAGTTCATTATTAAGA	0.488		NaN											0	0	0	0.00623	0	37	70				
FLG	2312	broad.mit.edu	37	1	152282887	152282887	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152282887T>C	uc001ezu.1	-	3	4511	c.4475A>G	c.(4474-4476)CAC>CGC	p.H1492R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1492	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCCGGGTGTCCACGAAT	0.587		NaN							Ichthyosis				0	0	0	0.01441	0	119	737				
CD1C	911	broad.mit.edu	37	1	158263070	158263070	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:158263070G>T	uc001fru.2	+	5	1250	c.958G>T	c.(958-960)GTG>TTG	p.V320L	CD1C_uc001frv.2_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	320	Helical; (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					AATAGTCCTTGTGTTATGGTT	0.393		NaN											1	0	1.69816e-31	0.01441	1.9024e-31	78	736				
NCSTN	23385	broad.mit.edu	37	1	160326942	160326942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:160326942G>C	uc001fvx.2	+	16	2030	c.1906G>C	c.(1906-1908)GAA>CAA	p.E636Q	NCSTN_uc001fvy.2_Missense_Mutation_p.E616Q|NCSTN_uc010pjf.1_Missense_Mutation_p.E498Q|NCSTN_uc001fvz.2_Missense_Mutation_p.E416Q|NCSTN_uc010pjg.1_Missense_Mutation_p.E378Q	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	636	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTGCCTTTGAACTGAGTCA	0.537		NaN											0	0	0	0.015359	0	32	375				
RGS4	5999	broad.mit.edu	37	1	163044271	163044271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:163044271C>G	uc009wuy.2	+	5	1050	c.539C>G	c.(538-540)CCG>CGG	p.P180R	RGS4_uc001gcl.3_Missense_Mutation_p.P277R|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.P162R	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	180					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						TTGGTCAACCCGTCCAGCTGT	0.517		NaN											0	0	0	0.01441	0	56	436				
DCAF6	55827	broad.mit.edu	37	1	168007717	168007717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:168007717C>T	uc001gew.2	+	11	1729	c.1487C>T	c.(1486-1488)ACA>ATA	p.T496I	DCAF6_uc001gev.2_Missense_Mutation_p.T516I|DCAF6_uc001gex.2_Missense_Mutation_p.T573I|DCAF6_uc010plk.1_Missense_Mutation_p.T542I|DCAF6_uc001gey.2_Missense_Mutation_p.T369I	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	496					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGAACTTTACAGATGAATGG	0.333		NaN											0	0	0	0.010818	0	30	142				
FAM20B	9917	broad.mit.edu	37	1	179019501	179019501	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:179019501G>A	uc001gmc.2	+	3	757	c.464_splice	c.e3+1	p.R155_splice		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor							Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						ACTTGGACAGGTGCGTATGAT	0.443		NaN											0	0	0	0.01441	0	62	123				
RGS18	64407	broad.mit.edu	37	1	192127775	192127775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:192127775C>T	uc001gsg.2	+	1	184	c.8C>T	c.(7-9)ACA>ATA	p.T3I		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	3					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						AAGATGGAAACAACATTGCTT	0.264		NaN											0	0	0	0.003163	0	16	45				
KIF14	9928	broad.mit.edu	37	1	200587160	200587160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:200587160C>G	uc010ppk.1	-	2	1131	c.692G>C	c.(691-693)AGA>ACA	p.R231T	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	231	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GTGTCCTGATCTAACAACTTC	0.408		NaN											0	0	0	0.01441	0	379	65				
CDC42BPA	8476	broad.mit.edu	37	1	227204728	227204728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:227204728C>G	uc001hqr.2	-	32	5477	c.4534G>C	c.(4534-4536)GAA>CAA	p.E1512Q	CDC42BPA_uc001hqq.2_Missense_Mutation_p.E811Q|CDC42BPA_uc001hqs.2_Missense_Mutation_p.E1431Q|CDC42BPA_uc009xes.2_Missense_Mutation_p.E1484Q|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E1492Q|CDC42BPA_uc001hqp.2_Missense_Mutation_p.E668Q|CDC42BPA_uc001hqt.2_Missense_Mutation_p.E390Q	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1525					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGATGTTTCAGGTACTACC	0.363		NaN											0	0	0	0.01441	0	60	103				
HEATR1	55127	broad.mit.edu	37	1	236729993	236729993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:236729993C>T	uc001hyd.1	-	30	4386	c.4261G>A	c.(4261-4263)GAA>AAA	p.E1421K	HEATR1_uc009xgh.1_Missense_Mutation_p.E583K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1421					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACATACTGTTCAAAAAGCAAG	0.488		NaN											0	0	0	0.009535	0	28	36				
OR1C1	26188	broad.mit.edu	37	1	247921243	247921243	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:247921243C>A	uc010pza.1	-	1	466	c.466G>T	c.(466-468)GCC>TCC	p.A156S		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCAGGAGGGCGTGGAGGTAA	0.498		NaN											1	0	1.49673e-21	0.00623	1.64288e-21	41	7				
MYO3A	53904	broad.mit.edu	37	10	26377316	26377316	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:26377316G>T	uc001isn.2	+	15	1904	c.1544G>T	c.(1543-1545)CGA>CTA	p.R515L	MYO3A_uc009xko.1_Missense_Mutation_p.R515L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R515L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GAAAAATCCCGAGTTATCCAC	0.348		NaN											1	0	8.83742e-36	0.01441	9.96885e-36	73	47				
BMS1	9790	broad.mit.edu	37	10	43292463	43292463	+	Missense_Mutation	SNP	G	G	A	rs145513181		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:43292463G>A	uc001jaj.2	+	10	2129	c.1771G>A	c.(1771-1773)GAA>AAA	p.E591K		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	591					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GTTTGCATCTGAAGATGAATC	0.448		NaN											0	0	0	0.021523	0	23	82				
SLC18A3	6572	broad.mit.edu	37	10	50819136	50819136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:50819136C>T	uc001jhw.2	+	1	790	c.350C>T	c.(349-351)ACG>ATG	p.T117M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	117	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CGCTACCCTACGGAGAGCGAA	0.657		NaN											0	0	0	0.00632	0	25	47				
ADAMTS14	140766	broad.mit.edu	37	10	72511899	72511899	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:72511899T>G	uc001jrh.2	+	18	2645	c.2645T>G	c.(2644-2646)ATG>AGG	p.M882R	ADAMTS14_uc001jrg.2_Missense_Mutation_p.M885R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	882	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GACCACCACATGGTGCAGCGA	0.657		NaN											0	0	0	0.001984	0	6	15				
CDH23	64072	broad.mit.edu	37	10	73494069	73494069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:73494069G>A	uc001jrx.3	+	32	4554	c.4177G>A	c.(4177-4179)GAC>AAC	p.D1393N	C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.D201N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1393	Cadherin 13.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGTGGCAGATGACGGCGGCCC	0.622		NaN											0	0	0	0.004672	0	3	8				
TTC18	118491	broad.mit.edu	37	10	75051461	75051461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75051461C>G	uc009xrc.2	-	19	2288	c.2167G>C	c.(2167-2169)GAA>CAA	p.E723Q	TTC18_uc001jty.2_Missense_Mutation_p.E723Q|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.E104Q	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	723	TPR 3.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					AAGAAAATTTCTGCTTGCTCA	0.418		NaN											0	0	0	0.020292	0	15	25				
ZMYND17	118490	broad.mit.edu	37	10	75184443	75184443	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75184443G>C	uc001jud.2	-	7	1317	c.1251C>G	c.(1249-1251)CTC>CTG	p.L417L	ZMYND17_uc001juc.2_3'UTR|ZMYND17_uc009xrh.2_Silent_p.L440L|ZMYND17_uc009xrg.2_Silent_p.L196L	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	417							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					GTTCAGGTTTGAGGGACATGA	0.463		NaN											0	0	0	0.01441	0	51	72				
SH3PXD2A	9644	broad.mit.edu	37	10	105361657	105361657	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:105361657A>G	uc001kxj.1	-	14	3374	c.3234T>C	c.(3232-3234)AAT>AAC	p.N1078N	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.N913N|SH3PXD2A_uc010qqt.1_Silent_p.N955N|SH3PXD2A_uc009xxn.1_Silent_p.N913N|SH3PXD2A_uc010qqu.1_Silent_p.N1021N	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	1106	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCAGCCATTAGGGTTCC	0.552		NaN											0	0	0	0.007291	0	22	50				
INPP5F	22876	broad.mit.edu	37	10	121580377	121580377	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:121580377A>G	uc001leo.2	+	16	2072	c.1906A>G	c.(1906-1908)AGA>GGA	p.R636G	INPP5F_uc001lep.2_Missense_Mutation_p.R26G	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	636							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGCTACTCACAGAGACGTGGA	0.363		NaN											0	0	0	0.01441	0	44	87				
ACADSB	36	broad.mit.edu	37	10	124800022	124800022	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:124800022G>C	uc001lhb.2	+	4	461	c.344G>C	c.(343-345)GGA>GCA	p.G115A	ACADSB_uc010qub.1_Missense_Mutation_p.G13A	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	115					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GGAGGCACAGGAGCTTCATTT	0.368		NaN											0	0	0	0.00874	0	41	59				
C11orf16	56673	broad.mit.edu	37	11	8947287	8947287	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:8947287C>T	uc001mhb.3	-	5	1051	c.927G>A	c.(925-927)TTG>TTA	p.L309L	C11orf16_uc001mhc.3_Silent_p.L309L	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	309										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTGTGGGCTCCAACTCTGGAA	0.577		NaN											0	0	0	0.01892	0	25	53				
SBF2	81846	broad.mit.edu	37	11	10022532	10022532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10022532C>A	uc001mib.2	-	8	928	c.790G>T	c.(790-792)GAA>TAA	p.E264*	SBF2_uc001mif.3_Nonsense_Mutation_p.E20*	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	264	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTAGAACTTCCAGTAGCTGA	0.323		NaN											1	0	2.61681e-11	0.020292	2.77877e-11	13	29				
AMPD3	272	broad.mit.edu	37	11	10483070	10483070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10483070C>T	uc001mio.1	+	2	339	c.4C>T	c.(4-6)CCG>TCG	p.P2S	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.P11S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.P2S|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P9S|AMPD3_uc009yfy.2_Missense_Mutation_p.P2S	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	2					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGCTGAGATGCCGCGGCAGTT	0.552		NaN											0	0	0	0.01441	0	83	120				
USH1C	10083	broad.mit.edu	37	11	17538984	17538984	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:17538984A>G	uc001mnf.2	-	15	1357	c.1248T>C	c.(1246-1248)GAT>GAC	p.D416D	USH1C_uc001mne.2_Intron|USH1C_uc009yhb.2_Silent_p.D397D|USH1C_uc001mng.2_Intron|USH1C_uc001mnd.2_Silent_p.D380D	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	416					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1						CATCCAGGTCATCTGCGGGCT	0.627		NaN											0	0	0	0.004672	0	3	3				
OR4C11	219429	broad.mit.edu	37	11	55371622	55371622	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:55371622G>T	uc010rii.1	-	1	228	c.228C>A	c.(226-228)GCC>GCA	p.A76A		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTAATCTAGGGGCTGTGGAAG	0.398		NaN											1	0	1.05635e-38	0.01441	1.19573e-38	68	67				
OR5R1	219479	broad.mit.edu	37	11	56185264	56185264	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:56185264A>G	uc010rji.1	-	1	445	c.445T>C	c.(445-447)TAT>CAT	p.Y149H		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTGTATATATATGGAACTGCC	0.453		NaN											0	0	0	0.021022	0	39	81				
OR6Q1	219952	broad.mit.edu	37	11	57799250	57799250	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57799250A>C	uc010rjz.1	+	1	826	c.826A>C	c.(826-828)AAG>CAG	p.K276Q	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				CAACTTCAACAAGGTGGTATC	0.488		NaN											0	0	0	0.004656	0	25	161				
OR9Q1	219956	broad.mit.edu	37	11	57947275	57947275	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57947275A>G	uc001nmj.2	+	3	675	c.359A>G	c.(358-360)TAT>TGT	p.Y120C		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				CTCATGGCCTATGACCGCTAC	0.552		NaN											0	0	0	0.016522	0	20	55				
FZD4	8322	broad.mit.edu	37	11	86663440	86663440	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:86663440T>G	uc001pce.2	-	2	664	c.358A>C	c.(358-360)ATG>CTG	p.M120L	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	120	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAAGACACATGCCGCCGCAT	0.478		NaN											0	0	0	0.01441	0	59	101				
ENDOD1	23052	broad.mit.edu	37	11	94861970	94861970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:94861970G>A	uc001pfh.2	+	2	805	c.730G>A	c.(730-732)GAC>AAC	p.D244N		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	244						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CCGGGACAGTGACATCATAGA	0.498		NaN											0	0	0	0.021523	0	23	30				
TRPC6	7225	broad.mit.edu	37	11	101374954	101374954	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:101374954T>C	uc001pgk.3	-	2	1171	c.746A>G	c.(745-747)CAT>CGT	p.H249R	TRPC6_uc009ywy.2_Missense_Mutation_p.H249R|TRPC6_uc009ywz.1_Missense_Mutation_p.H249R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	249	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAATAATCATGAGGCCGTTC	0.473		NaN											0	0	0	0.003163	0	16	120				
PVRL1	5818	broad.mit.edu	37	11	119535753	119535753	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:119535753C>A	uc001pwv.2	-	6	1430	c.1258G>T	c.(1258-1260)GAC>TAC	p.D420Y	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	420	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCTGAGTCGTCGGGGTACTGC	0.547		NaN											1	0	1.5548e-18	0.005443	1.68394e-18	26	50				
TP53AIP1	63970	broad.mit.edu	37	11	128807621	128807621	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:128807621G>A	uc001qey.2	-	2	303	c.93C>T	c.(91-93)CTC>CTT	p.L31L	TP53AIP1_uc001qex.2_Silent_p.L31L|TP53AIP1_uc009zcm.1_RNA			Q9HCN2	TPIP1_HUMAN	RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;	31					apoptosis	mitochondrion				lung(1)	1						GCATCACCGAGAGGTTCTGGT	0.622		NaN											0	0	0	0.008871	0	17	44				
RIMKLB	57494	broad.mit.edu	37	12	8926198	8926198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:8926198G>A	uc001quu.2	+	6	1230	c.979G>A	c.(979-981)GAG>AAG	p.E327K	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.E327K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E327K|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	327					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CACTGCCAGTGAGACTAGTGA	0.597		NaN											0	0	0	0.01441	0	45	35				
TAS2R50	259296	broad.mit.edu	37	12	11138589	11138589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:11138589G>C	uc001qzl.2	-	1	923	c.871C>G	c.(871-873)CTT>GTT	p.L291V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	291	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						AAAATCAAAAGAAAGGTGTGT	0.398		NaN											0	0	0	0.009718	0	42	126				
H2AFJ	55766	broad.mit.edu	37	12	14927572	14927572	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:14927572G>A	uc009zia.2	+	1	303	c.168G>A	c.(166-168)TTG>TTA	p.L56L	H2AFJ_uc001rch.3_RNA	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	56					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1						CGGCGGTGTTGGAGTACCTTA	0.667		NaN											0	0	0	0.00499	0	14	44				
OVCH1	341350	broad.mit.edu	37	12	29630357	29630357	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:29630357G>T	uc001rix.1	-	11	1163	c.1163C>A	c.(1162-1164)GCC>GAC	p.A388D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	388	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAACCATGGCCTCACTGGT	0.423		NaN											1	0	3.07184e-27	0.01441	3.40619e-27	66	51				
IPO8	10526	broad.mit.edu	37	12	30829450	30829450	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:30829450G>A	uc001rjd.2	-	6	881	c.711C>T	c.(709-711)ATC>ATT	p.I237I	IPO8_uc010sjt.1_Silent_p.I32I	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	237					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CGGTCCTGTCGATAATAGTTC	0.428		NaN											0	0	0	0.012319	0	20	75				
CPNE8	144402	broad.mit.edu	37	12	39079368	39079368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39079368C>T	uc001rls.1	-	16	1279	c.1195G>A	c.(1195-1197)GCT>ACT	p.A399T	CPNE8_uc001rlr.1_Missense_Mutation_p.A58T	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTAATAAGCCTCCATGACC	0.398		NaN											0	0	0	0.006122	0	18	228				
KIF21A	55605	broad.mit.edu	37	12	39730987	39730987	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39730987T>C	uc001rly.2	-	17	2475	c.2329A>G	c.(2329-2331)ATG>GTG	p.M777V	KIF21A_uc001rlw.2_Missense_Mutation_p.M94V|KIF21A_uc001rlx.2_Missense_Mutation_p.M764V|KIF21A_uc001rlz.2_Missense_Mutation_p.M764V|KIF21A_uc010skl.1_Missense_Mutation_p.M764V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	777					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTCTTTCATTTGTTTCATT	0.348		NaN											0	0	0	0.010771	0	44	93				
PDZRN4	29951	broad.mit.edu	37	12	41967486	41967486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:41967486G>A	uc010skn.1	+	10	2376	c.2308G>A	c.(2308-2310)GAG>AAG	p.E770K	PDZRN4_uc001rmq.3_Missense_Mutation_p.E711K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E709K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E596K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	969							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGCAGGTTAGAGTGTCTCAA	0.498		NaN											0	0	0	0.020292	0	14	25				
RACGAP1	29127	broad.mit.edu	37	12	50384549	50384549	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:50384549G>A	uc001rvt.2	-	18	2051	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S	RACGAP1_uc009zlm.1_Missense_Mutation_p.P581S|RACGAP1_uc001rvs.2_Missense_Mutation_p.P581S|RACGAP1_uc001rvu.2_Missense_Mutation_p.P581S	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	581					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						TGATGTTCAGGAGTGGTCACA	0.438		NaN											0	0	0	0.008361	0	28	87				
DIP2B	57609	broad.mit.edu	37	12	51090911	51090911	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:51090911C>A	uc001rwv.2	+	17	2157	c.2001C>A	c.(1999-2001)ATC>ATA	p.I667I	DIP2B_uc009zlt.2_Silent_p.I97I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	667						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CTGAGGCCATCTGTCCGTGCG	0.498		NaN											1	0	2.0095e-06	0.001984	2.06005e-06	7	29				
ESPL1	9700	broad.mit.edu	37	12	53676162	53676162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:53676162C>G	uc001sck.2	+	14	2825	c.2734C>G	c.(2734-2736)CTT>GTT	p.L912V	ESPL1_uc001scj.2_Missense_Mutation_p.L587V|ESPL1_uc010soe.1_Missense_Mutation_p.L123V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	912					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGCAGCTTACCTTAGCCTCCC	0.577		NaN											0	0	0	0.014323	0	22	64				
TPH2	121278	broad.mit.edu	37	12	72388270	72388270	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:72388270G>A	uc009zrw.1	+	8	1134	c.993G>A	c.(991-993)AAG>AAA	p.K331K	TPH2_uc001swy.2_Silent_p.K241K	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	CGGATCCTAAGTTTGCTCAGT	0.403		NaN											0	0	0	0.015359	0	31	132				
PITPNM2	57605	broad.mit.edu	37	12	123471235	123471235	+	Silent	SNP	C	C	T	rs147680163	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:123471235C>T	uc001uej.1	-	23	3694	c.3555G>A	c.(3553-3555)CCG>CCA	p.P1185P	PITPNM2_uc001uek.1_Silent_p.P1179P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1185					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGCCGCAGCGGGTCATGCA	0.687		NaN											0	0	0	0.009096	0	3	19				
KATNAL1	84056	broad.mit.edu	37	13	30829724	30829724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:30829724G>A	uc001uss.2	-	4	453	c.352C>T	c.(352-354)CGA>TGA	p.R118*	KATNAL1_uc001ust.2_Nonsense_Mutation_p.R118*	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	118						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTACTTCTCGATTGGGACGC	0.388		NaN											0	0	0	0.01441	0	176	78				
BRCA2	675	broad.mit.edu	37	13	32929379	32929379	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:32929379T>C	uc001uub.1	+	14	7616	c.7389T>C	c.(7387-7389)AAT>AAC	p.N2463N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2463	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAACTCCAATCAAGCAGTAG	0.323		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.008871	0	20	37				
TDRD3	81550	broad.mit.edu	37	13	61057916	61057916	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:61057916C>G	uc001via.2	+	6	1012	c.224C>G	c.(223-225)TCA>TGA	p.S75*	TDRD3_uc010aef.2_Translation_Start_Site|TDRD3_uc001vhz.3_Nonsense_Mutation_p.S75*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.S168*|TDRD3_uc001vib.3_Nonsense_Mutation_p.S75*	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	75					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAGAGCTTATCAAAACACAAT	0.348		NaN											0	0	0	0.01441	0	46	128				
FAM179B	23116	broad.mit.edu	37	14	45432544	45432544	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45432544A>G	uc001wvv.2	+	1	1129	c.920A>G	c.(919-921)TAC>TGC	p.Y307C	FAM179B_uc001wvw.2_Missense_Mutation_p.Y307C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.Y307C|FAM179B_uc001wvu.2_Missense_Mutation_p.Y307C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	307							binding			skin(2)|upper_aerodigestive_tract(1)	3						AGGAGACACTACAATCGCCGC	0.502		NaN											0	0	0	0.019004	0	33	64				
PTGER2	5732	broad.mit.edu	37	14	52781858	52781858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:52781858C>G	uc001wzr.2	+	1	843	c.592C>G	c.(592-594)CAG>GAG	p.Q198E		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	198	Extracellular (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CGCTTACCTGCAGCTGTACGC	0.627		NaN											0	0	0	0.014758	0	3	31				
C14orf174	161394	broad.mit.edu	37	14	77845304	77845304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:77845304G>C	uc001xtq.1	+	1	1543	c.1543G>C	c.(1543-1545)GAT>CAT	p.D515H	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	515											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GGAAGTTGTAGATTTGTCCCA	0.413		NaN											0	0	0	0.005524	0	37	67				
GPR68	8111	broad.mit.edu	37	14	91700947	91700947	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:91700947G>T	uc001xzg.2	-	2	789	c.448C>A	c.(448-450)CTG>ATG	p.L150M	GPR68_uc001xzh.2_Missense_Mutation_p.L160M	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	150	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CTGGTCAGCAGCTCCTTGGCC	0.637		NaN											1	0	4.68919e-08	0.008291	4.85294e-08	11	15				
ATG2B	55102	broad.mit.edu	37	14	96757944	96757944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:96757944G>A	uc001yfi.2	-	38	5937	c.5572C>T	c.(5572-5574)CGA>TGA	p.R1858*		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1858										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TACCCATGTCGATAGGAAAGC	0.348		NaN											0	0	0	0.011902	0	41	180				
MGA	23269	broad.mit.edu	37	15	41961492	41961492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:41961492C>T	uc001zog.1	+	2	491	c.400C>T	c.(400-402)CGT>TGT	p.R134C	MGA_uc010ucy.1_Missense_Mutation_p.R134C|MGA_uc010ucz.1_Missense_Mutation_p.R134C	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	134	T-box.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGATAACCATCGTTATAAGTG	0.418		NaN											0	0	0	0.01441	0	130	245				
FBN1	2200	broad.mit.edu	37	15	48776085	48776085	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:48776085A>T	uc001zwx.1	-	31	4096	c.3768T>A	c.(3766-3768)AAT>AAA	p.N1256K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1256	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCCAGGGATATTTGTGCACT	0.398		NaN											0	0	0	0.01441	0	57	66				
KIAA1370	56204	broad.mit.edu	37	15	52901214	52901214	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:52901214T>C	uc002acg.3	-	6	2050	c.1897A>G	c.(1897-1899)ATG>GTG	p.M633V	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.M545V|KIAA1370_uc010ugf.1_Missense_Mutation_p.M640V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	633											0				all cancers(107;0.0803)		CCATTGCTCATTTCTTGCTCC	0.303		NaN											0	0	0	0.01441	0	44	170				
UNC13C	440279	broad.mit.edu	37	15	54306851	54306851	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:54306851G>T	uc002ack.2	+	1	1751	c.1751G>T	c.(1750-1752)CGG>CTG	p.R584L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	584					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTCGGACCGGGAGCTATGG	0.453		NaN											1	0	1.87028e-06	0.012319	1.92338e-06	21	48				
RPLP1	6176	broad.mit.edu	37	15	69746006	69746006	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:69746006C>T	uc002asd.1	+	2	222	c.93C>T	c.(91-93)CTC>CTT	p.L31L	RPLP1_uc002ase.1_Intron	NM_001003	NP_000994	P05386	RLA1_HUMAN	ribosomal protein P1 isoform 1	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TCAATGCCCTCATTAAAGCAG	0.418		NaN											0	0	0	0.01441	0	68	69				
GRAMD2	196996	broad.mit.edu	37	15	72459414	72459414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:72459414G>A	uc002atq.2	-	6	416	c.392C>T	c.(391-393)TCT>TTT	p.S131F	GRAMD2_uc010bis.2_Missense_Mutation_p.S131F	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	131	GRAM.					integral to membrane					0						CATTTGCACAGACACCACAGG	0.567		NaN											0	0	0	0.004482	0	9	45				
SCAPER	49855	broad.mit.edu	37	15	76726455	76726455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:76726455C>T	uc002bby.2	-	25	3334	c.3275G>A	c.(3274-3276)GGT>GAT	p.G1092D	SCAPER_uc010bkr.2_Missense_Mutation_p.G400D|SCAPER_uc002bbx.2_Missense_Mutation_p.G846D|SCAPER_uc002bbz.1_Missense_Mutation_p.G963D	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1091						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AAAAGGATCACCTTGTGAGGG	0.373		NaN											0	0	0	0.00499	0	18	39				
CREBBP	1387	broad.mit.edu	37	16	3786148	3786148	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3786148A>C	uc002cvv.2	-	28	4821	c.4617T>G	c.(4615-4617)TAT>TAG	p.Y1539*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.Y1501*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1539	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACCTTCAAAATAGGGCAGTT	0.478		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.01441	0	80	63		Valid		
CREBBP	1387	broad.mit.edu	37	16	3828045	3828045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3828045C>G	uc002cvv.2	-	10	2284	c.2080G>C	c.(2080-2082)GTG>CTG	p.V694L	CREBBP_uc002cvw.2_Missense_Mutation_p.V656L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	694					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGTGGAATCACAGGGGGCTGA	0.502		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.012213	0	31	148		Valid		
CIITA	4261	broad.mit.edu	37	16	10971204	10971204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:10971204C>T	uc002dai.3	+	1	150	c.17C>T	c.(16-18)CCA>CTA	p.P6L	CIITA_uc002daj.3_Missense_Mutation_p.P6L|CIITA_uc002dak.3_Missense_Mutation_p.P6L|CIITA_uc002dag.2_Missense_Mutation_p.P6L|CIITA_uc002dah.2_Missense_Mutation_p.P6L|CIITA_uc010bup.1_Missense_Mutation_p.P6L	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	6					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TGCCTGGCTCCACGCCCTGCT	0.597		NaN	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								0	0	0	0.001984	0	7	6				
MYST1	84148	broad.mit.edu	37	16	31141847	31141847	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:31141847C>T	uc002eay.2	+	9	1095	c.1077C>T	c.(1075-1077)CTC>CTT	p.L359L	MYST1_uc002eax.2_Silent_p.L359L|MYST1_uc002eaz.2_Silent_p.L201L|MYST1_uc002eba.2_Silent_p.L143L|MYST1_uc002ebb.2_RNA	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	359					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TGGGCAAGCTCAGCTACCGCA	0.612		NaN											0	0	0	0.013537	0	8	15				
CA7	766	broad.mit.edu	37	16	66881069	66881069	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:66881069C>T	uc002eqi.2	+	2	286	c.177C>T	c.(175-177)CTC>CTT	p.L59L	uc002eqh.2_Intron|CA7_uc002eqj.2_Silent_p.L3L	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	59					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GCATGTCCCTCAGCATCACCA	0.572		NaN											0	0	0	0.00499	0	17	20				
PKD1L2	114780	broad.mit.edu	37	16	81161440	81161440	+	Silent	SNP	G	G	A	rs117399993	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:81161440G>A	uc002fgh.1	-	38	6276	c.6276C>T	c.(6274-6276)ATC>ATT	p.I2092I	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2092	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTGCCCCAGATGGGATACC	0.547		NaN											0	0	0	0.010729	0	11	38				
ABR	29	broad.mit.edu	37	17	1003885	1003885	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003885G>A	uc002fsd.2	-	3	447	c.337C>T	c.(337-339)CTG>TTG	p.L113L	ABR_uc002fse.2_Silent_p.L67L|ABR_uc002fsg.2_Silent_p.L76L|ABR_uc010cjq.1_Silent_p.L125L	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	113	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCAGCAACAGGGCTTCCAGC	0.572		NaN											0	0	0	0.00632	0	29	20				
ABR	29	broad.mit.edu	37	17	1003907	1003907	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003907G>A	uc002fsd.2	-	3	425	c.315C>T	c.(313-315)ATC>ATT	p.I105I	ABR_uc002fse.2_Silent_p.I59I|ABR_uc002fsg.2_Silent_p.I68I|ABR_uc010cjq.1_Silent_p.I117I	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	105	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGTTAATGTAGATCTCTTCGC	0.582		NaN											0	0	0	0.010771	0	45	22				
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:7578475G>A	uc002gim.2	-	5	649	c.455C>T	c.(454-456)CCG>CTG	p.P152L	TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.2_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.1_Missense_Mutation_p.P113L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00623	0	35	5		Valid		
MYH13	8735	broad.mit.edu	37	17	10206521	10206521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:10206521C>T	uc002gmk.1	-	39	5749	c.5659G>A	c.(5659-5661)GAG>AAG	p.E1887K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1887	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						ACCGCCTCCTCAGCCTGCCTC	0.592		NaN											0	0	0	0.021022	0	38	42				
SLC47A1	55244	broad.mit.edu	37	17	19480737	19480737	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:19480737G>A	uc002gvy.1	+	17	1670	c.1584G>A	c.(1582-1584)CCG>CCA	p.P528P	SLC47A1_uc002gvx.2_Silent_p.P528P|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.P226P|SLC47A1_uc010cqq.1_Silent_p.P274P|SLC47A1_uc010vza.1_Silent_p.P240P|SLC47A1_uc010vzb.1_Silent_p.P203P|SLC47A1_uc010vzc.1_Silent_p.P200P	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	528	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AACCTTTGCCGGAACATCCAC	0.532		NaN											0	0	0	0.006999	0	38	157				
CPD	1362	broad.mit.edu	37	17	28712233	28712233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:28712233G>A	uc002hfb.1	+	2	988	c.973G>A	c.(973-975)GCA>ACA	p.A325T	CPD_uc010wbo.1_Missense_Mutation_p.A78T|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	325	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CACAAACGGCGCACATTGGTA	0.413		NaN											0	0	0	0.01441	0	149	279				
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:46111232C>G	uc002imy.2	-	7	278	c.265G>C	c.(265-267)GAG>CAG	p.E89Q		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat					0						CACTTACTCTCAGTCCGGCTG	0.483		NaN											0	0	0	0.001168	0	6	24				
CACNA1G	8913	broad.mit.edu	37	17	48681582	48681582	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681582C>A	uc002irk.1	+	22	4608	c.4236C>A	c.(4234-4236)ATC>ATA	p.I1412I	CACNA1G_uc002iri.1_Silent_p.I1412I|CACNA1G_uc002irj.1_Silent_p.I1389I|CACNA1G_uc002irl.1_Silent_p.I1389I|CACNA1G_uc002irm.1_Silent_p.I1389I|CACNA1G_uc002irn.1_Silent_p.I1389I|CACNA1G_uc002iro.1_Silent_p.I1389I|CACNA1G_uc002irp.1_Silent_p.I1412I|CACNA1G_uc002irq.1_Silent_p.I1389I|CACNA1G_uc002irr.1_Silent_p.I1412I|CACNA1G_uc002irs.1_Silent_p.I1412I|CACNA1G_uc002irt.1_Silent_p.I1412I|CACNA1G_uc002irv.1_Silent_p.I1412I|CACNA1G_uc002irw.1_Silent_p.I1389I|CACNA1G_uc002iru.1_Silent_p.I1389I|CACNA1G_uc002irx.1_Silent_p.I1325I|CACNA1G_uc002iry.1_Silent_p.I1325I|CACNA1G_uc002irz.1_Silent_p.I1325I|CACNA1G_uc002isa.1_Silent_p.I1325I|CACNA1G_uc002isb.1_Silent_p.I1325I|CACNA1G_uc002isc.1_Silent_p.I1325I|CACNA1G_uc002isd.1_Silent_p.I1325I|CACNA1G_uc002ise.1_Silent_p.I1325I|CACNA1G_uc002isf.1_Silent_p.I1325I|CACNA1G_uc002isg.1_Silent_p.I1325I|CACNA1G_uc002ish.1_Silent_p.I1325I|CACNA1G_uc002isi.1_Silent_p.I1302I|CACNA1G_uc002isj.2_Silent_p.I136I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1412	Helical; Name=S5 of repeat III; (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAAACCCATCGGCAACATTG	0.597		NaN											1	0	1.16021e-09	0.007291	1.21617e-09	31	110				
CACNA1G	8913	broad.mit.edu	37	17	48681612	48681612	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681612C>T	uc002irk.1	+	22	4638	c.4266C>T	c.(4264-4266)TTC>TTT	p.F1422F	CACNA1G_uc002iri.1_Silent_p.F1422F|CACNA1G_uc002irj.1_Silent_p.F1399F|CACNA1G_uc002irl.1_Silent_p.F1399F|CACNA1G_uc002irm.1_Silent_p.F1399F|CACNA1G_uc002irn.1_Silent_p.F1399F|CACNA1G_uc002iro.1_Silent_p.F1399F|CACNA1G_uc002irp.1_Silent_p.F1422F|CACNA1G_uc002irq.1_Silent_p.F1399F|CACNA1G_uc002irr.1_Silent_p.F1422F|CACNA1G_uc002irs.1_Silent_p.F1422F|CACNA1G_uc002irt.1_Silent_p.F1422F|CACNA1G_uc002irv.1_Silent_p.F1422F|CACNA1G_uc002irw.1_Silent_p.F1399F|CACNA1G_uc002iru.1_Silent_p.F1399F|CACNA1G_uc002irx.1_Silent_p.F1335F|CACNA1G_uc002iry.1_Silent_p.F1335F|CACNA1G_uc002irz.1_Silent_p.F1335F|CACNA1G_uc002isa.1_Silent_p.F1335F|CACNA1G_uc002isb.1_Silent_p.F1335F|CACNA1G_uc002isc.1_Silent_p.F1335F|CACNA1G_uc002isd.1_Silent_p.F1335F|CACNA1G_uc002ise.1_Silent_p.F1335F|CACNA1G_uc002isf.1_Silent_p.F1335F|CACNA1G_uc002isg.1_Silent_p.F1335F|CACNA1G_uc002ish.1_Silent_p.F1335F|CACNA1G_uc002isi.1_Silent_p.F1312F|CACNA1G_uc002isj.2_Silent_p.F146F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1422	Helical; Name=S5 of repeat III; (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGTGCCTTCTTCATCATTT	0.607		NaN											0	0	0	0.019004	0	32	129				
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48761367C>A	uc002isl.2	+	28	4092	c.4012C>A	c.(4012-4014)CGC>AGC	p.R1338S	ABCC3_uc002isn.2_Missense_Mutation_p.R92S	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1338	Cytoplasmic (By similarity).|ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622		NaN											1	0	9.84934e-19	0.010771	1.07029e-18	42	18				
GNA13	10672	broad.mit.edu	37	17	63052540	63052540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:63052540C>T	uc002jfc.2	-	1	381	c.172G>A	c.(172-174)GAG>AAG	p.E58K	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	58	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						TTGCCGCTCTCGCCCGCGCCC	0.617		NaN											0	0	0	0.013726	0	34	124				
CCDC46	201134	broad.mit.edu	37	17	64171210	64171210	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:64171210G>C	uc002jfl.2	-	4	641	c.422C>G	c.(421-423)TCT>TGT	p.S141C	CCDC46_uc002jfm.2_Missense_Mutation_p.S141C|CCDC46_uc010dep.2_Missense_Mutation_p.S141C	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	141						centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TTCTCCAGAAGAGAGTTTCCA	0.423		NaN											0	0	0	0.012213	0	33	187				
DSC1	1823	broad.mit.edu	37	18	28736055	28736055	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:28736055G>T	uc002kwn.2	-	4	684	c.422C>A	c.(421-423)GCT>GAT	p.A141D	DSC1_uc002kwm.2_Missense_Mutation_p.A141D	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	141	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCAATGAAGCTGGAATAGG	0.403		NaN											1	0	3.5997e-14	0.014323	3.83497e-14	23	71				
B4GALT6	9331	broad.mit.edu	37	18	29206280	29206280	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:29206280G>C	uc002kwz.3	-	8	1264	c.967C>G	c.(967-969)CAT>GAT	p.H323D	B4GALT6_uc010dma.2_Missense_Mutation_p.H284D|B4GALT6_uc010dmb.2_Missense_Mutation_p.H284D|B4GALT6_uc002kwy.3_RNA	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	323	Lumenal (Potential).	Manganese (By similarity).			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTATGGTGATGAGGAATTGAC	0.358		NaN											0	0	0	0.011902	0	45	15				
DYM	54808	broad.mit.edu	37	18	46904947	46904947	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:46904947A>G	uc002ldi.1	-	5	776	c.411T>C	c.(409-411)CCT>CCC	p.P137P	DYM_uc010xdf.1_Intron	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	137						Golgi apparatus					0						TGTAATTGCCAGGAGATTTTT	0.289		NaN											0	0	0	0.014323	0	24	41				
ZNF236	7776	broad.mit.edu	37	18	74606980	74606980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74606980G>A	uc002lmi.2	+	10	1621	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	475					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCCATCCGCGAGGAGAACGG	0.657		NaN											0	0	0	0.011902	0	36	68				
ZNF236	7776	broad.mit.edu	37	18	74617282	74617282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74617282C>G	uc002lmi.2	+	13	2400	c.2202C>G	c.(2200-2202)ATC>ATG	p.I734M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	734	C2H2-type 16.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACATGGGTATCCACAACGACC	0.433		NaN											0	0	0	0.006122	0	19	22				
S1PR4	8698	broad.mit.edu	37	19	3179545	3179545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:3179545C>T	uc002lxg.2	+	1	780	c.755C>T	c.(754-756)ACG>ATG	p.T252M		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	252	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						CTGCTGAAGACGGTGCTGATG	0.687		NaN											0	0	0	0.008871	0	15	34				
HDGFRP2	84717	broad.mit.edu	37	19	4475339	4475339	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:4475339C>T	uc002mao.2	+	2	233	c.140C>T	c.(139-141)ACA>ATA	p.T47I	HDGFRP2_uc002map.2_Missense_Mutation_p.T47I|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	47	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						TTCTTTGGCACACACGAAACG	0.602		NaN											0	0	0	0.006122	0	18	29				
FBN3	84467	broad.mit.edu	37	19	8193911	8193911	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:8193911C>T	uc002mjf.2	-	17	2317	c.2296_splice	c.e17+1	p.D766_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGACCCAGTACCTTTGCAGAT	0.592		NaN											0	0	0	0.008871	0	17	39				
ZNF700	90592	broad.mit.edu	37	19	12059541	12059541	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:12059541C>T	uc002msu.2	+	4	828	c.702C>T	c.(700-702)TTC>TTT	p.F234F	ZNF700_uc010xme.1_Silent_p.F252F|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	234	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCATTCTTTCAGTTTATATC	0.348		NaN											0	0	0	0.012319	0	22	81				
ZSWIM4	65249	broad.mit.edu	37	19	13936478	13936478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:13936478C>T	uc002mxh.1	+	11	2168	c.1979C>T	c.(1978-1980)GCC>GTC	p.A660V	ZSWIM4_uc010xng.1_Missense_Mutation_p.A583V	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	660							zinc ion binding	p.A660A(1)		central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGGTCAGCGCCCCACCAGAC	0.677		NaN											0	0	0	0.013726	0	30	24				
ZNF626	199777	broad.mit.edu	37	19	20807939	20807939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:20807939C>G	uc002npb.1	-	4	894	c.744G>C	c.(742-744)AAG>AAC	p.K248N	ZNF626_uc002npc.1_Missense_Mutation_p.K172N	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	248	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TATGATTTCTCTTATGTGTAG	0.383		NaN											0	0	0	0.013114	0	45	104				
APLP1	333	broad.mit.edu	37	19	36369852	36369852	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:36369852C>T	uc002oce.2	+	15	1846	c.1708C>T	c.(1708-1710)CTG>TTG	p.L570L	APLP1_uc010xsz.1_Silent_p.L531L|APLP1_uc002ocf.2_Silent_p.L571L|APLP1_uc002ocg.2_Silent_p.L474L|APLP1_uc010xta.1_Silent_p.L564L	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	570	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGATGAGCTGGTAAGAGG	0.582		NaN											0	0	0	0.01441	0	51	23				
MEGF8	1954	broad.mit.edu	37	19	42830399	42830399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:42830399G>A	uc002otl.3	+	1	639	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2						integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GGCGGCGATGGCCCTGGGCAA	0.672		NaN									OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	12	12				
PSG7	5676	broad.mit.edu	37	19	43439844	43439844	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:43439844C>G	uc002ovl.3	-	2	244	c.142G>C	c.(142-144)GGG>CGG	p.G48R	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	48	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACT	0.488		NaN											0	0	0	0.01441	0	41	294				
IRGQ	126298	broad.mit.edu	37	19	44099434	44099434	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:44099434C>T	uc002oww.2	-	1	175	c.57G>A	c.(55-57)GGG>GGA	p.G19G	IRGQ_uc010eiv.2_Silent_p.G19G|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	19							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				GCGCGGACTTCCCCAAGCCCG	0.682		NaN											0	0	0	0.020292	0	14	48				
PVRL2	5819	broad.mit.edu	37	19	45375390	45375390	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:45375390G>A	uc002ozw.1	+	3	1149	c.759G>A	c.(757-759)GTG>GTA	p.V253V	PVRL2_uc002ozv.2_Silent_p.V253V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	253	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGATACCTGTGACCCTCTCTG	0.567		NaN											0	0	0	0.00499	0	17	93				
CCDC114	93233	broad.mit.edu	37	19	48800570	48800570	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:48800570T>C	uc002pir.2	-	14	2359	c.1676A>G	c.(1675-1677)CAC>CGC	p.H559R	CCDC114_uc002piq.2_Missense_Mutation_p.H368R|CCDC114_uc002pio.2_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	559										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAAAGTGACGTGGCCAAGAGA	0.637		NaN											0	0	0	0.008871	0	18	21				
C19orf41	126123	broad.mit.edu	37	19	50666011	50666011	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:50666011C>A	uc002prp.1	-	2	379	c.292G>T	c.(292-294)GGT>TGT	p.G98C		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	98	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		AGAGAGTTACCCATTAAGTGC	0.537		NaN											1	0	1.06647e-15	0.017118	1.14365e-15	31	67				
LILRB2	10288	broad.mit.edu	37	19	54782754	54782754	+	Missense_Mutation	SNP	A	A	G	rs143661416	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:54782754A>G	uc002qfb.2	-	6	1134	c.868T>C	c.(868-870)TAC>CAC	p.Y290H	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.Y290H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.Y290H|LILRB2_uc010yet.1_Missense_Mutation_p.Y174H|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	290	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTAGGAGCGGCTC	0.667		NaN											0	0	0	0.00499	0	13	52				
KIR2DL3	3804	broad.mit.edu	37	19	55263182	55263182	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55263182A>T	uc002qgv.2	+	6	815	c.797A>T	c.(796-798)CAT>CTT	p.H266L	KIR2DL3_uc002qgx.2_Missense_Mutation_p.H266L|KIR2DL3_uc002qgy.2_Missense_Mutation_p.H168L|KIR2DL3_uc010erw.1_Missense_Mutation_p.H266L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	266	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		tttctccttcATCGCTGGTGC	0.438		NaN											0	0	0	0.01441	0	62	115				
SYT5	6861	broad.mit.edu	37	19	55689707	55689707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55689707G>T	uc002qjm.1	-	2	1169	c.109C>A	c.(109-111)CTG>ATG	p.L37M	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.L37M|SYT5_uc002qjo.1_Missense_Mutation_p.L37M	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	37	Helical; (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTGAGACCAGCACGATGGTG	0.617		NaN											1	0	2.74318e-10	0.006214	2.88476e-10	9	5				
PKDCC	91461	broad.mit.edu	37	2	42284440	42284440	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:42284440C>T	uc002rsg.2	+	6	1481	c.1302C>T	c.(1300-1302)CTC>CTT	p.L434L		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	434	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GGAGCTGCCTCCTTTCAGTGT	0.592		NaN											0	0	0	0.007835	0	39	119				
PPM1B	5495	broad.mit.edu	37	2	44429053	44429053	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:44429053A>G	uc002rtt.2	+	2	1143	c.715A>G	c.(715-717)ATC>GTC	p.I239V	PPM1B_uc002rts.2_Missense_Mutation_p.I239V|PPM1B_uc002rtu.2_Missense_Mutation_p.I239V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.I239V|PPM1B_uc002rtx.2_Missense_Mutation_p.I239V	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	239					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAATTTATCATCTTGGCTTG	0.408		NaN											0	0	0	0.007835	0	38	61				
SLC4A5	57835	broad.mit.edu	37	2	74474321	74474321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:74474321C>T	uc002sko.1	-	14	1903	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.R634H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R634H|SLC4A5_uc002skp.1_Missense_Mutation_p.R570H|SLC4A5_uc002sks.1_Missense_Mutation_p.R634H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	634	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CTCGGTGAAGCGGGTGATATA	0.488		NaN											0	0	0	0.014323	0	22	190				
MRPL35	51318	broad.mit.edu	37	2	86434368	86434368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:86434368C>T	uc002srg.3	+	3	354	c.296C>T	c.(295-297)GCA>GTA	p.A99V	MRPL35_uc002srf.3_Missense_Mutation_p.A99V	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	99					translation	mitochondrial ribosome	structural constituent of ribosome				0						TACTTCAGTGCAAGAAAAGGC	0.418		NaN											0	0	0	0.008291	0	9	60				
KIAA1310	55683	broad.mit.edu	37	2	97268530	97268530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:97268530G>A	uc002swn.3	-	18	2365	c.2219C>T	c.(2218-2220)TCT>TTT	p.S740F	KIAA1310_uc002swh.3_Missense_Mutation_p.S626F|KIAA1310_uc002swi.3_Missense_Mutation_p.S667F|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S653F|KIAA1310_uc010fhz.2_Missense_Mutation_p.S560F|KIAA1310_uc002swl.3_Missense_Mutation_p.S639F|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S534F|KIAA1310_uc002swo.2_Missense_Mutation_p.S88F	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	766	Ser-rich.										0						TGGAAGGCCAGAGGTCTTGCT	0.592		NaN											0	0	0	0.00632	0	24	104				
MAP4K4	9448	broad.mit.edu	37	2	102460640	102460640	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:102460640C>T	uc002tbg.2	+	12	1155	c.1100C>T	c.(1099-1101)TCC>TTC	p.S367F	MAP4K4_uc002tbc.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbd.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbe.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbf.2_Missense_Mutation_p.S367F|MAP4K4_uc010yvy.1_Missense_Mutation_p.S367F|MAP4K4_uc002tbh.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbi.2_Missense_Mutation_p.S220F|MAP4K4_uc010yvz.1_Missense_Mutation_p.S347F|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.S263F	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	367					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AAGGAACGTTCCGAGGCTCTT	0.512		NaN											0	0	0	0.014758	0	5	28				
ANAPC1	64682	broad.mit.edu	37	2	112621282	112621282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:112621282G>A	uc002thi.2	-	9	1269	c.1022C>T	c.(1021-1023)TCA>TTA	p.S341L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						AATAGAAGGTGAGCGAGAATG	0.428		NaN											0	0	0	0.007413	0	17	107				
GPR148	344561	broad.mit.edu	37	2	131487541	131487541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131487541T>C	uc002trv.1	+	1	819	c.817T>C	c.(817-819)TAC>CAC	p.Y273H		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	273	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)					GATCACATTGTACGTGAGCAC	0.582		NaN											0	0	0	0.01441	0	76	75				
FAM168B	130074	broad.mit.edu	37	2	131812980	131812980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131812980G>A	uc002tsd.2	-	5	569	c.340C>T	c.(340-342)CAC>TAC	p.H114Y		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	hypothetical protein LOC130074	114											0						TGGATGACGTGAGGAGGTGCT	0.617		NaN											0	0	0	0.01441	0	64	69				
NCKAP5	344148	broad.mit.edu	37	2	133540922	133540922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:133540922C>G	uc002ttp.2	-	14	3836	c.3462G>C	c.(3460-3462)ATG>ATC	p.M1154I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1154							protein binding				0						GGGGAGACTTCATGAGCACTT	0.488		NaN											0	0	0	0.013726	0	34	102				
LRP1B	53353	broad.mit.edu	37	2	141245258	141245258	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:141245258G>C	uc002tvj.1	-	58	10143	c.9171C>G	c.(9169-9171)ATC>ATG	p.I3057M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3057	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGATCCAATAGATGAATTCTT	0.308		NaN								TSP Lung(27;0.18)			0	0	0	0.021022	0	38	80				
FAP	2191	broad.mit.edu	37	2	163075644	163075644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163075644G>A	uc002ucd.2	-	8	744	c.536C>T	c.(535-537)CCA>CTA	p.P179L	FAP_uc010zct.1_Missense_Mutation_p.P154L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.P146L	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	179	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TTGAAAAGGTGGATCTCCTGG	0.328		NaN											0	0	0	0.01441	0	84	90				
IFIH1	64135	broad.mit.edu	37	2	163144789	163144789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163144789C>G	uc002uce.2	-	5	1173	c.951G>C	c.(949-951)CAG>CAC	p.Q317H		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	317	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						CCAAGGCTGGCTGGGCAACTT	0.478		NaN											0	0	0	0.012213	0	33	86				
CHN1	1123	broad.mit.edu	37	2	175664879	175664879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:175664879C>G	uc002uji.2	-	13	1875	c.1345G>C	c.(1345-1347)GAG>CAG	p.E449Q	CHN1_uc010zeq.1_Missense_Mutation_p.E423Q|CHN1_uc002ujj.2_Missense_Mutation_p.E224Q|CHN1_uc002ujg.2_Missense_Mutation_p.E324Q	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	449	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATAAGCAGCTCCACCACCAGT	0.358		NaN	T	TAF15	extraskeletal myxoid chondrosarcoma								0	0	0	0.006122	0	18	25				
TTN	7273	broad.mit.edu	37	2	179412163	179412163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179412163G>A	uc010zfg.1	-	288	86710	c.86486C>T	c.(86485-86487)TCA>TTA	p.S28829L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22524L|TTN_uc010zfi.1_Missense_Mutation_p.S22457L|TTN_uc010zfj.1_Missense_Mutation_p.S22332L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29756							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTGGTGCTGATTCTAGAGG	0.323		NaN											0	0	0	0.001168	0	6	23				
TTN	7273	broad.mit.edu	37	2	179462655	179462655	+	Missense_Mutation	SNP	A	A	G	rs78509062		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179462655A>G	uc010zfg.1	-	242	49762	c.49538T>C	c.(49537-49539)ATT>ACT	p.I16513T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10208T|TTN_uc010zfi.1_Missense_Mutation_p.I10141T|TTN_uc010zfj.1_Missense_Mutation_p.I10016T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17440							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCATTTCAATGACATCTGT	0.368		NaN											0	0	0	0.01441	0	50	92				
STAT1	6772	broad.mit.edu	37	2	191847160	191847160	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:191847160T>C	uc002usj.2	-	18	1919	c.1531A>G	c.(1531-1533)AAA>GAA	p.K511E	STAT1_uc010fse.1_Missense_Mutation_p.K511E|STAT1_uc002usk.2_Missense_Mutation_p.K511E|STAT1_uc002usl.2_Missense_Mutation_p.K513E|STAT1_uc010fsf.1_Missense_Mutation_p.K323E	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	511					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGACCTCTTTTGGTGACAGAA	0.403		NaN											0	0	0	0.01441	0	96	115				
C2orf60	129450	broad.mit.edu	37	2	200800710	200800710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:200800710G>C	uc002uvi.3	-	7	901	c.635C>G	c.(634-636)TCC>TGC	p.S212C	C2orf60_uc002uvj.3_Missense_Mutation_p.S49C|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.S49C	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	212	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						TCTAGCCTTGGAAAAAAGTGG	0.333		NaN											0	0	0	0.007835	0	43	163				
MYL1	4632	broad.mit.edu	37	2	211158490	211158490	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211158490C>T	uc002vec.2	-	5	642	c.513G>A	c.(511-513)CTG>CTA	p.L171L	MYL1_uc002veb.2_Silent_p.L127L	NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	171	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GACCTGCCATCAGGGCTTCCA	0.423		NaN											0	0	0	0.01441	0	56	243				
CPS1	1373	broad.mit.edu	37	2	211525295	211525295	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211525295G>A	uc002vee.3	+	32	3975	c.3843G>A	c.(3841-3843)AAG>AAA	p.K1281K	CPS1_uc010fur.2_Silent_p.K1287K|CPS1_uc010fus.2_Silent_p.K830K	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1281	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCCACCAAGGTGATGATTG	0.403		NaN											0	0	0	0.01441	0	87	221				
ERBB4	2066	broad.mit.edu	37	2	212522499	212522499	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:212522499G>A	uc002veg.1	-	16	2024	c.1926C>T	c.(1924-1926)TCC>TCT	p.S642S	ERBB4_uc002veh.1_Silent_p.S642S|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Silent_p.S642S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	642	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTGGTAAAGTGGAATGGCCCG	0.428		NaN								TSP Lung(8;0.080)			0	0	0	0.01441	0	45	57				
ARMC9	80210	broad.mit.edu	37	2	232156134	232156134	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232156134C>T	uc002vrq.3	+	18	1807	c.1695C>T	c.(1693-1695)TTC>TTT	p.F565F	ARMC9_uc002vrp.3_Silent_p.F565F|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	565							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGATAGAATTCATCATCAAGC	0.378		NaN											0	0	0	0.01441	0	46	88				
DIS3L2	129563	broad.mit.edu	37	2	232995343	232995343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232995343G>A	uc010fxz.2	+	7	892	c.616G>A	c.(616-618)GAT>AAT	p.D206N	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.D206N|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	206							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGGATGGTGATGCACCGGT	0.393		NaN											0	0	0	0.010504	0	20	32				
DEFB125	245938	broad.mit.edu	37	20	76884	76884	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:76884G>C	uc002wcw.2	+	2	297	c.297G>C	c.(295-297)CTG>CTC	p.L99L		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	99					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TGAATGATCTGATAACATTTG	0.423		NaN											0	0	0	0.01441	0	173	127				
MCM8	84515	broad.mit.edu	37	20	5935320	5935320	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:5935320T>G	uc002wmi.2	+	4	697	c.320T>G	c.(319-321)ATT>AGT	p.I107S	MCM8_uc002wmj.2_Missense_Mutation_p.I107S|MCM8_uc002wmk.2_Missense_Mutation_p.I107S|MCM8_uc002wml.2_Missense_Mutation_p.I107S|MCM8_uc010gbp.2_Missense_Mutation_p.I107S	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	107					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						ACAAGGCATATTGATTTGTAT	0.318		NaN											0	0	0	0.00499	0	16	58				
PCSK2	5126	broad.mit.edu	37	20	17446013	17446013	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:17446013C>G	uc002wpm.2	+	11	1565	c.1245C>G	c.(1243-1245)CTC>CTG	p.L415L	PCSK2_uc002wpl.2_Silent_p.L396L|PCSK2_uc010zrm.1_Silent_p.L380L|PCSK2_uc002wpn.2_Silent_p.L69L	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	415	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGACTGTGCTCACCTCCAAAC	0.582		NaN											0	0	0	0.014758	0	3	24				
SSTR4	6754	broad.mit.edu	37	20	23017255	23017255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:23017255C>T	uc002wsr.2	+	1	1199	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	379	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGCCGCAAGCGCATCCCCCT	0.657		NaN											0	0	0	0.008871	0	17	60				
RBM39	9584	broad.mit.edu	37	20	34295071	34295071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:34295071G>C	uc002xeb.2	-	14	1622	c.1278C>G	c.(1276-1278)TTC>TTG	p.F426L	RBM39_uc002xdz.2_Missense_Mutation_p.F402L|RBM39_uc002xea.2_Missense_Mutation_p.F269L|RBM39_uc010gfn.2_Missense_Mutation_p.F269L|RBM39_uc010zvm.1_Missense_Mutation_p.F398L|RBM39_uc002xeg.2_Missense_Mutation_p.F404L|RBM39_uc002xec.2_Missense_Mutation_p.F420L|RBM39_uc002xed.2_Missense_Mutation_p.F144L|RBM39_uc002xee.2_Missense_Mutation_p.F269L|RBM39_uc002xef.2_Missense_Mutation_p.F263L|RBM39_uc010zvn.1_Missense_Mutation_p.F269L	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	426	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGAGAGTTGGAAACATTGTG	0.333		NaN											0	0	0	0.00499	0	14	67				
AURKA	6790	broad.mit.edu	37	20	54945601	54945601	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:54945601T>G	uc002xxd.1	-	10	1535	c.969A>C	c.(967-969)TTA>TTC	p.L323F	AURKA_uc002xxe.1_Missense_Mutation_p.L323F|AURKA_uc002xxf.1_Missense_Mutation_p.L323F|AURKA_uc002xxg.1_Missense_Mutation_p.L323F|AURKA_uc002xxh.1_Missense_Mutation_p.L323F|AURKA_uc002xxi.1_Missense_Mutation_p.L323F|AURKA_uc002xxj.1_Missense_Mutation_p.L323F|AURKA_uc002xxk.1_Missense_Mutation_p.L323F|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	323	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			GCTTCCCAACTAAAAATTCAT	0.478		NaN											0	0	0	0.013726	0	30	88				
ZGPAT	84619	broad.mit.edu	37	20	62340259	62340259	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:62340259G>A	uc002ygk.2	+	2	505	c.327G>A	c.(325-327)GCG>GCA	p.A109A	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.A109A|ZGPAT_uc002ygj.2_Silent_p.A109A|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.A109A|ZGPAT_uc002ygm.2_Silent_p.A109A|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	109					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGCAGAGGCGGGGCCAGAAT	0.547		NaN											0	0	0	0.014323	0	19	37				
NCAM2	4685	broad.mit.edu	37	21	22656638	22656638	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:22656638A>G	uc002yld.1	+	3	504	c.255A>G	c.(253-255)ATA>ATG	p.I85M	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.I110M	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	85	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGCAAATATAGAAGATGCAG	0.368		NaN											0	0	0	0.01441	0	49	87				
KRTAP6-3	337968	broad.mit.edu	37	21	31964950	31964950	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:31964950C>T	uc002yom.2	+	1	192	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_181605	NP_853636			keratin associated protein 6-3												0						gaggcctgggctgtggctatg	0.085		NaN											0	0	0	0.00499	0	14	27				
SFRS15	57466	broad.mit.edu	37	21	33076179	33076179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:33076179G>A	uc002ypd.2	-	4	646	c.220C>T	c.(220-222)CGT>TGT	p.R74C	SFRS15_uc002ype.2_Missense_Mutation_p.R74C|SFRS15_uc010glu.2_Missense_Mutation_p.R59C|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.R74C	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	74	CID.					nucleus	nucleotide binding|RNA binding				0						AACTGATGACGAGACTGTCGC	0.353		NaN											0	0	0	0.01441	0	63	144				
BRWD1	54014	broad.mit.edu	37	21	40636481	40636481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636481C>A	uc002yxk.1	-	17	1929	c.1790G>T	c.(1789-1791)GGA>GTA	p.G597V	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G597V|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G50V|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G317V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGAGGATTTCCATCTACATC	0.413		NaN											1	0	7.41877e-09	0.012319	7.70229e-09	11	170				
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636563C>T	uc002yxk.1	-	17	1847	c.1708G>A	c.(1708-1710)GAT>AAT	p.D570N	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D570N|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.D23N|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D290N	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373		NaN											0	0	0	0.010729	0	8	83				
BRWD1	54014	broad.mit.edu	37	21	40636565	40636565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636565C>T	uc002yxk.1	-	17	1845	c.1706G>A	c.(1705-1707)AGA>AAA	p.R569K	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R569K|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.R22K|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.R289K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTAGAATCTCTAATAAGTGG	0.378		NaN											0	0	0	0.008291	0	8	83				
BRWD1	54014	broad.mit.edu	37	21	40636822	40636822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636822C>T	uc002yxk.1	-	16	1793	c.1654G>A	c.(1654-1656)GAA>AAA	p.E552K	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.E552K|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.E272K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	552	WD 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGACCTTTTCATATGGTTTG	0.358		NaN											0	0	0	0.010729	0	10	118				
BRWD1	54014	broad.mit.edu	37	21	40636873	40636873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636873C>G	uc002yxk.1	-	16	1742	c.1603G>C	c.(1603-1605)GAT>CAT	p.D535H	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D535H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D255H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	535	WD 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCATGAGAATCTGTACAGGCA	0.373		NaN									OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.016723	0	10	144				
SLC19A1	6573	broad.mit.edu	37	21	46945798	46945798	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:46945798A>G	uc002zhl.1	-	5	1345	c.1226T>C	c.(1225-1227)ATC>ACC	p.I409T	SLC19A1_uc010gpy.1_Missense_Mutation_p.I409T|SLC19A1_uc011aft.1_Missense_Mutation_p.I369T|SLC19A1_uc002zhm.1_Missense_Mutation_p.I409T|SLC19A1_uc010gpz.1_Missense_Mutation_p.I288T	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	409	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGTCTTGACGATGGTGGCAAA	0.577		NaN											0	0	0	0.00632	0	25	82				
P2RX6	9127	broad.mit.edu	37	22	21377871	21377871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:21377871A>G	uc010gsu.1	+	8	854	c.854A>G	c.(853-855)TAC>TGC	p.Y285C	P2RX6_uc002ztz.2_Missense_Mutation_p.Y259C|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	285	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TGGCCTCACTACTCCTTCCAG	0.607		NaN											0	0	0	0.004482	0	8	21				
RASL10A	10633	broad.mit.edu	37	22	29709953	29709953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:29709953C>G	uc003aff.2	-	2	756	c.243G>C	c.(241-243)TGG>TGC	p.W81C	RASL10A_uc003afg.2_Missense_Mutation_p.W81C	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	81	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						CCTGCAAGCTCCAGTCCTTAG	0.637		NaN											0	0	0	0.00632	0	22	41				
PKDREJ	10343	broad.mit.edu	37	22	46655856	46655856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:46655856C>T	uc003bhh.2	-	1	3364	c.3364G>A	c.(3364-3366)GGT>AGT	p.G1122S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1122	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTTCTCACCAAGAATGCAA	0.498		NaN											0	0	0	0.006999	0	39	183				
ZBED4	9889	broad.mit.edu	37	22	50280171	50280171	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:50280171T>A	uc003bix.2	+	2	3331	c.2861T>A	c.(2860-2862)CTC>CAC	p.L954H		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	954						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGTCCACCCTCAGCCAGGTC	0.602		NaN											0	0	0	0.010729	0	9	41				
BRPF1	7862	broad.mit.edu	37	3	9786008	9786008	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:9786008G>T	uc003bse.2	+	9	3117	c.2718G>T	c.(2716-2718)AAG>AAT	p.K906N	BRPF1_uc003bsf.2_Missense_Mutation_p.K912N|BRPF1_uc003bsg.2_Missense_Mutation_p.K905N|BRPF1_uc011ati.1_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	906	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GACCGCCCAAGAGGCCGGGCC	0.647		NaN											1	0	3.09479e-21	0.006999	3.38557e-21	39	72				
ENTPD3	956	broad.mit.edu	37	3	40464569	40464569	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:40464569T>A	uc003ckd.3	+	8	1152	c.1060T>A	c.(1060-1062)TCT>ACT	p.S354T	ENTPD3_uc010hhy.2_Missense_Mutation_p.S354T|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	354	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAAACCTGTTCTTTTGATGG	0.408		NaN											0	0	0	0.01441	0	82	105				
ULK4	54986	broad.mit.edu	37	3	41841697	41841697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:41841697C>T	uc003ckv.3	-	20	2138	c.1937G>A	c.(1936-1938)GGA>GAA	p.G646E	ULK4_uc003ckw.2_Missense_Mutation_p.G646E	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	646							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCTATTTCTCCTGTAATAAA	0.418		NaN											0	0	0	0.01441	0	109	176				
NKTR	4820	broad.mit.edu	37	3	42678913	42678913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:42678913C>T	uc003clo.2	+	13	1864	c.1717C>T	c.(1717-1719)CAG>TAG	p.Q573*	NKTR_uc003clm.1_Nonsense_Mutation_p.Q320*|NKTR_uc003clp.2_Nonsense_Mutation_p.Q320*|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Nonsense_Mutation_p.Q463*|NKTR_uc003clr.1_Nonsense_Mutation_p.Q320*|NKTR_uc003cls.2_Nonsense_Mutation_p.Q273*	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	573	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACAGCTTCTCAGTTAAGTGA	0.378		NaN											0	0	0	0.01441	0	53	184				
ZNF167	55888	broad.mit.edu	37	3	44612062	44612062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44612062G>C	uc010hin.2	+	6	1848	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.R336T|ZNF167_uc003cnj.2_Missense_Mutation_p.R487T|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	487	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GACCACCAGAGAACCCATACT	0.458		NaN											0	0	0	0.009718	0	40	164				
ZNF197	10168	broad.mit.edu	37	3	44674010	44674010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44674010G>A	uc003cnm.2	+	5	894	c.688G>A	c.(688-690)GAA>AAA	p.E230K	ZNF197_uc003cnn.2_Missense_Mutation_p.E230K|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.E230K	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	230	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CACTTCAGAGGAATGGGCATG	0.473		NaN											0	0	0	0.016723	0	12	368				
TGM4	7047	broad.mit.edu	37	3	44945406	44945406	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44945406G>A	uc003coc.3	+	9	1075	c.1002G>A	c.(1000-1002)ATG>ATA	p.M334I		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	334					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGCCTGGATGAAGCGACCGG	0.617		NaN											0	0	0	0.015359	0	30	70				
FYCO1	79443	broad.mit.edu	37	3	46006596	46006596	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:46006596T>A	uc003cpb.3	-	9	3285	c.3079A>T	c.(3079-3081)AGC>TGC	p.S1027C	FYCO1_uc011bal.1_Missense_Mutation_p.S1027C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCCCTGAGGCTCTTGCACTCT	0.562		NaN											0	0	0	0.021523	0	25	67				
KIAA2018	205717	broad.mit.edu	37	3	113380114	113380114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:113380114G>A	uc003eam.2	-	7	826	c.415C>T	c.(415-417)CCT>TCT	p.P139S	KIAA2018_uc003eal.2_Missense_Mutation_p.P83S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	139					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TGGTCACTAGGAATAACAACA	0.363		NaN											0	0	0	0.00308	0	8	208				
SR140	23350	broad.mit.edu	37	3	142747454	142747454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:142747454G>C	uc003evh.1	+	16	1675	c.1576G>C	c.(1576-1578)GAG>CAG	p.E526Q	SR140_uc003evi.1_Missense_Mutation_p.E117Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E525Q|SR140_uc003evl.1_Missense_Mutation_p.E93Q	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	526					RNA processing	nucleus	nucleotide binding|RNA binding				0						AGCTTTTGTAGAGGAACCTAG	0.343		NaN											0	0	0	0.010818	0	29	80				
PLOD2	5352	broad.mit.edu	37	3	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:145806415C>T	uc003evs.1	-	9	1469	c.963G>A	c.(961-963)CTG>CTA	p.L321L	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Silent_p.L266L|PLOD2_uc003evr.1_Silent_p.L321L	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	321					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTGGGTAATCCAGTGTCAACA	0.323		NaN											0	0	0	0.00632	0	27	56				
P2RY1	5028	broad.mit.edu	37	3	152554107	152554107	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:152554107T>C	uc003ezq.2	+	1	1372	c.536T>C	c.(535-537)GTG>GCG	p.V179A		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	179	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGCTCATTGTGGTGGTGGCG	0.567		NaN											0	0	0	0.005524	0	36	52				
SEC62	7095	broad.mit.edu	37	3	169706098	169706098	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:169706098C>T	uc003fgg.2	+	7	712	c.681C>T	c.(679-681)CTC>CTT	p.L227L	SEC62_uc003fgh.2_Silent_p.L227L	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	227	Lumenal (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						TTTATTACCTCAGTGTGGGTG	0.413		NaN											0	0	0	0.01441	0	60	216				
CCDC50	152137	broad.mit.edu	37	3	191047481	191047481	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:191047481C>G	uc003fsw.2	+	1	608	c.18C>G	c.(16-18)ATC>ATG	p.I6M	CCDC50_uc003fsv.2_Missense_Mutation_p.I6M|UTS2D_uc003fsu.2_Intron	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	6						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGTCAGCATCGACCAGTCCA	0.701		NaN											0	0	0	0.001168	0	4	4				
TACC3	10460	broad.mit.edu	37	4	1725159	1725159	+	Missense_Mutation	SNP	A	A	G	rs145470576	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:1725159A>G	uc003gdo.2	+	2	119	c.11A>G	c.(10-12)CAG>CGG	p.Q4R	TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Missense_Mutation_p.Q4R|TACC3_uc003gdp.2_Missense_Mutation_p.Q4R	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	4						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ATGAGTCTGCAGGTCTTAAAC	0.458		NaN											0	0	0	0.004672	0	3	35				
EVC	2121	broad.mit.edu	37	4	5733227	5733227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:5733227G>C	uc003gil.1	+	4	644	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	154					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCAGCCGGTAGAGGCCTCTCC	0.602		NaN											0	0	0	0.017118	0	19	27				
BOD1L	259282	broad.mit.edu	37	4	13601779	13601779	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:13601779C>G	uc003gmz.1	-	10	6862	c.6745G>C	c.(6745-6747)GAA>CAA	p.E2249Q	BOD1L_uc010idr.1_Missense_Mutation_p.E1586Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2249							DNA binding			ovary(5)|breast(1)	6						CCGTCTTTTTCTTCCATGACT	0.517		NaN											0	0	0	0.014323	0	22	6				
RBM47	54502	broad.mit.edu	37	4	40434800	40434800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:40434800G>C	uc003gvc.2	-	6	2120	c.1410C>G	c.(1408-1410)ATC>ATG	p.I470M	RBM47_uc003gvd.2_Missense_Mutation_p.I401M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I432M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	470						nucleus	nucleotide binding|RNA binding			breast(3)	3						CCACTGTGTGGATTTTGCCAT	0.413		NaN											0	0	0	0.010729	0	11	18				
CLOCK	9575	broad.mit.edu	37	4	56336930	56336930	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:56336930A>G	uc003haz.1	-	9	1318	c.392T>C	c.(391-393)ATA>ACA	p.I131T	CLOCK_uc003hba.1_Missense_Mutation_p.I131T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	131	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CACATATATTATGCTTCCATC	0.284		NaN											0	0	0	0.01441	0	52	151				
ADAMTS3	9508	broad.mit.edu	37	4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	rs145300703		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:73414511G>A	uc003hgk.1	-	3	225	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	63					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTGACTCGCAGAAAGAGT	0.448		NaN											0	0	0	0.014323	0	23	67				
CXCL6	6372	broad.mit.edu	37	4	74702788	74702788	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:74702788C>G	uc003hhf.2	+	2	412	c.217C>G	c.(217-219)CCG>GCG	p.P73A	IL8_uc011cbh.1_Intron	NM_002993	NP_002984	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6 (granulocyte	73					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCCCGCAGGCCCGCAGTGCTC	0.542		NaN											0	0	0	0.010729	0	12	56				
HNRPDL	9987	broad.mit.edu	37	4	83349206	83349206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:83349206C>T	uc003hmr.2	-	3	1274	c.739G>A	c.(739-741)GAA>AAA	p.E247K	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E247K	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	247	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTAATTTGTTCTTCAGAAGTA	0.383		NaN											0	0	0	0.00632	0	27	88				
PDHA2	5161	broad.mit.edu	37	4	96761377	96761377	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:96761377C>A	uc003htr.3	+	1	139	c.76C>A	c.(76-78)CGT>AGT	p.R26S		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	26					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGTGGCATCCCGTAACTCCTC	0.522		NaN											1	0	0.000442599	0.006214	0.000450898	10	23				
LRIT3	345193	broad.mit.edu	37	4	110788968	110788968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:110788968C>T	uc003hzx.3	+	2	819	c.626C>T	c.(625-627)CCA>CTA	p.P209L	LRIT3_uc003hzw.3_Missense_Mutation_p.P71L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	209	Ig-like.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTCTGAAACCATCAGTGATG	0.512		NaN											0	0	0	0.017118	0	37	43				
SYNPO2	171024	broad.mit.edu	37	4	119952786	119952786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:119952786G>C	uc003icm.3	+	4	3052	c.2856G>C	c.(2854-2856)AAG>AAC	p.K952N	SYNPO2_uc010ina.2_Missense_Mutation_p.K952N|SYNPO2_uc010inb.2_Missense_Mutation_p.K952N|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K880N	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	952						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AAATGGGCAAGAAAAAGGGAA	0.498		NaN											0	0	0	0.004482	0	8	40				
ANXA5	308	broad.mit.edu	37	4	122590871	122590871	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:122590871C>T	uc003idu.3	-	11	859	c.789G>A	c.(787-789)GGG>GGA	p.G263G	ANXA5_uc003idv.3_Silent_p.G263G|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Intron|ANXA5_uc010inn.2_Silent_p.G203G|ANXA5_uc010ino.2_Silent_p.G163G	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	263	Annexin 4.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						GATCATCTGTCCCAGCTCCCT	0.393		NaN											0	0	0	0.021523	0	26	53				
FAT4	79633	broad.mit.edu	37	4	126369781	126369781	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126369781C>T	uc003ifj.3	+	9	7610	c.7610C>T	c.(7609-7611)TCT>TTT	p.S2537F	FAT4_uc011cgp.1_Missense_Mutation_p.S835F|FAT4_uc003ifi.1_Missense_Mutation_p.S15F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2537	Extracellular (Potential).|Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGACATTTTCTGTGCATGTA	0.438		NaN											0	0	0	0.00499	0	18	45				
FAT4	79633	broad.mit.edu	37	4	126411829	126411829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126411829G>T	uc003ifj.3	+	17	13852	c.13852G>T	c.(13852-13854)GAG>TAG	p.E4618*	FAT4_uc011cgp.1_Nonsense_Mutation_p.E2859*|FAT4_uc003ifi.1_Nonsense_Mutation_p.E2095*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4618	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCAGGAGATAGAGCACTATGA	0.478		NaN											1	0	1.37522e-17	0.007413	1.48451e-17	18	37				
OTUD4	54726	broad.mit.edu	37	4	146067508	146067508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:146067508C>T	uc003ika.3	-	14	1276	c.1138G>A	c.(1138-1140)GAA>AAA	p.E380K	OTUD4_uc003ijz.3_Missense_Mutation_p.E379K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	444							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CTGCGCTCTTCTGGGGAAAGG	0.413		NaN											0	0	0	0.00308	0	7	123				
PALLD	23022	broad.mit.edu	37	4	169602510	169602510	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:169602510A>C	uc011cjx.1	+	4	1326	c.1115A>C	c.(1114-1116)GAA>GCA	p.E372A	PALLD_uc003iru.2_Missense_Mutation_p.E372A|PALLD_uc003irv.2_5'UTR	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	372					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCTGACAGTGAAAGTTTAGCT	0.358		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.014758	0	5	69				
ADCY2	108	broad.mit.edu	37	5	7521004	7521004	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:7521004G>T	uc003jdz.1	+	3	629	c.562G>T	c.(562-564)GTC>TTC	p.V188F		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	188	Helical; (Potential).			VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGAGCACCTGGTCTGGCAGGT	0.607		NaN											1	0	2.74695e-27	0.01441	3.05634e-27	49	75				
SLC45A2	51151	broad.mit.edu	37	5	33964006	33964006	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:33964006G>A	uc003jid.2	-	3	770	c.678C>T	c.(676-678)CTC>CTT	p.L226L	SLC45A2_uc003jie.2_Silent_p.L226L|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	226	Helical; Name=6; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.L226L(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AACACAAAGTGAGCACCAATG	0.502		NaN											0	0	0	0.008871	0	21	107				
SNX18	112574	broad.mit.edu	37	5	53839070	53839070	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:53839070G>A	uc003jpi.3	+	2	1873	c.1683G>A	c.(1681-1683)CAG>CAA	p.Q561Q	SNX18_uc011cqg.1_3'UTR	NM_001102575	NP_001096045	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform a	Error:Variant_position_missing_in_Q96RF0_after_alignment					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGGAGGTGCAGAAGGCTGACG	0.408		NaN											0	0	0	0.008361	0	29	64				
TMEM171	134285	broad.mit.edu	37	5	72419557	72419557	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:72419557C>T	uc003kcm.2	+	2	561	c.357C>T	c.(355-357)TTC>TTT	p.F119F	TMEM171_uc003kcn.3_Silent_p.F119F	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	119	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GGTTTCTGTTCTTGACAAGCG	0.587		NaN											0	0	0	0.008361	0	28	71				
HOMER1	9456	broad.mit.edu	37	5	78671855	78671855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:78671855C>T	uc003kfy.2	-	9	2145	c.1042G>A	c.(1042-1044)GCC>ACC	p.A348T	HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Missense_Mutation_p.A218T|HOMER1_uc010jad.2_Missense_Mutation_p.A174T	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	348	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AGTAGCTTGGCCAAGTTATCT	0.363		NaN											0	0	0	0.013537	0	13	49				
TRIM36	55521	broad.mit.edu	37	5	114466549	114466549	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:114466549A>G	uc003kqs.2	-	9	2081	c.1572T>C	c.(1570-1572)AAT>AAC	p.N524N	TRIM36_uc011cwc.1_Silent_p.N512N|TRIM36_uc003kqt.2_Silent_p.N369N	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	524	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTGTTCATTATTATAGCCAC	0.368		NaN											0	0	0	0.010818	0	31	59				
SLC27A6	28965	broad.mit.edu	37	5	128320834	128320834	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:128320834G>C	uc003kuy.2	+	3	886	c.490G>C	c.(490-492)GGA>CGA	p.G164R	SLC27A6_uc003kuz.2_Missense_Mutation_p.G164R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	164					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGATTTGCTTGGAACGGTAGA	0.373		NaN											0	0	0	0.008291	0	10	21				
H2AFY	9555	broad.mit.edu	37	5	134679035	134679035	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:134679035G>C	uc003lam.1	-	8	1078	c.868C>G	c.(868-870)CTG>GTG	p.L290V	uc003laj.1_RNA|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.L289V|H2AFY_uc003lan.1_Missense_Mutation_p.L287V|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.L118V|H2AFY_uc003las.1_Missense_Mutation_p.L290V|H2AFY_uc003lat.1_Missense_Mutation_p.L289V	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	290	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTTTCCAGAAGTTCTTCA	0.522		NaN											0	0	0	0.00874	0	44	122				
LECT2	3950	broad.mit.edu	37	5	135283149	135283149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:135283149C>G	uc003lbe.1	-	4	528	c.327G>C	c.(325-327)AAG>AAC	p.K109N	FBXL21_uc003lbc.2_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	109					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCTTTATACTTAATTGGCT	0.299		NaN											0	0	0	0.012213	0	34	45				
PCDHB8	56128	broad.mit.edu	37	5	140559901	140559901	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:140559901G>A	uc011dai.1	+	1	2472	c.2286G>A	c.(2284-2286)ACG>ACA	p.T762T	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	762	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGGACGAATGAGTTCC	0.517		NaN											0	0	0	0.008361	0	30	59				
PDGFRB	5159	broad.mit.edu	37	5	149505034	149505034	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:149505034T>C	uc003lro.2	-	12	2250	c.1781A>G	c.(1780-1782)GAG>GGG	p.E594G	PDGFRB_uc010jhd.2_Missense_Mutation_p.E433G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	594	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGCGGCAGCTCCCACGTGGA	0.403		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								0	0	0	0.003163	0	12	11				
SH3PXD2B	285590	broad.mit.edu	37	5	171766782	171766782	+	Missense_Mutation	SNP	C	C	T	rs138949033		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:171766782C>T	uc003mbr.2	-	13	1498	c.1327G>A	c.(1327-1329)GAG>AAG	p.E443K		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	443					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGTCACCTCGTGGGGCAGG	0.647		NaN											0	0	0	0.00499	0	16	18				
STC2	8614	broad.mit.edu	37	5	172750298	172750298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:172750298C>T	uc003mco.1	-	3	1740	c.430G>A	c.(430-432)GAC>AAC	p.D144N	STC2_uc003mcn.1_Missense_Mutation_p.D59N	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	144					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGCACAGGTCGTGCTTGAGG	0.622		NaN											0	0	0	0.006122	0	17	24				
CDYL	9425	broad.mit.edu	37	6	4937844	4937844	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:4937844G>A	uc003mwi.2	+	6	1287	c.1156G>A	c.(1156-1158)GAC>AAC	p.D386N	CDYL_uc003mwj.2_Missense_Mutation_p.D332N|CDYL_uc003mwk.2_Missense_Mutation_p.D97N|CDYL_uc011dhx.1_Missense_Mutation_p.D200N|CDYL_uc011dhy.1_Missense_Mutation_p.D200N	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	386					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGCTGCCGATGACAGCAAGCT	0.448		NaN											0	0	0	0.010729	0	10	26				
KDM1B	221656	broad.mit.edu	37	6	18212790	18212790	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:18212790G>A	uc003nco.1	+	11	1404	c.1329G>A	c.(1327-1329)AAG>AAA	p.K443K	KDM1B_uc003ncn.1_Silent_p.K414K|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	646					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						TGTCAGAGAAGAAGATGAAGG	0.398		NaN											0	0	0	0.01441	0	113	683				
HIST1H1B	3009	broad.mit.edu	37	6	27834978	27834978	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:27834978G>C	uc003njx.2	-	1	382	c.330C>G	c.(328-330)CTC>CTG	p.L110L		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	110	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CCTTCTTGTTGAGTTTAAAGG	0.587		NaN											0	0	0	0.01441	0	49	187				
TRIM27	5987	broad.mit.edu	37	6	28889686	28889686	+	Missense_Mutation	SNP	C	C	T	rs112674133		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:28889686C>T	uc003nlr.2	-	2	858	c.499G>A	c.(499-501)GCA>ACA	p.A167T	TRIM27_uc003nls.2_Missense_Mutation_p.A167T|TRIM27_uc003nlt.1_Missense_Mutation_p.A167T	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	167	Potential.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						TCAGCTCGTGCCTGTTCCCCC	0.468		NaN	T	RET	papillary thyroid								0	0	0	0.005524	0	35	166				
MDC1	9656	broad.mit.edu	37	6	30672275	30672275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:30672275C>T	uc003nrg.3	-	10	5125	c.4685G>A	c.(4684-4686)AGG>AAG	p.R1562K	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1169K	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1562	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GACAGAGGACCTATTTGTCCT	0.592		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.01441	0	138	102				
FOXP4	116113	broad.mit.edu	37	6	41533702	41533702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:41533702G>C	uc003oql.2	+	2	662	c.204G>C	c.(202-204)CAG>CAC	p.Q68H	FOXP4_uc003oqm.2_Missense_Mutation_p.Q68H|FOXP4_uc003oqn.2_Missense_Mutation_p.Q68H	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	68	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCAGCAACAGGTAGGAACTG	0.617		NaN											0	0	0	0.013537	0	10	31				
LGSN	51557	broad.mit.edu	37	6	63990752	63990752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:63990752T>C	uc003peh.2	-	4	738	c.704A>G	c.(703-705)CAT>CGT	p.H235R	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	235					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	GGGCTGATCATGGTTATTTAA	0.388		NaN											0	0	0	0.01441	0	62	62				
COL19A1	1310	broad.mit.edu	37	6	70778319	70778319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:70778319C>T	uc003pfc.1	+	15	1292	c.1175C>T	c.(1174-1176)TCC>TTC	p.S392F	COL19A1_uc010kam.1_Missense_Mutation_p.S288F	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	392	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TCATAGGGTTCCCTGGGGATA	0.408		NaN											0	0	0	0.014323	0	20	143				
CASP8AP2	9994	broad.mit.edu	37	6	90572752	90572752	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90572752A>G	uc003pnr.2	+	7	1520	c.1324A>G	c.(1324-1326)ACT>GCT	p.T442A	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.T442A|CASP8AP2_uc011dzz.1_Missense_Mutation_p.T442A	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	442					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAACAGTAGAACTCACAAAAA	0.368		NaN											0	0	0	0.01441	0	95	77				
CASP8AP2	9994	broad.mit.edu	37	6	90581033	90581033	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90581033G>C	uc003pnr.2	+	9	6014	c.5818G>C	c.(5818-5820)GAG>CAG	p.E1940Q	CASP8AP2_uc003pns.2_Missense_Mutation_p.E148Q|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1940Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1940Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1940	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AATTTTATTGGAGTGTCAGAA	0.338		NaN											0	0	0	0.010771	0	38	39				
STX11	8676	broad.mit.edu	37	6	144508325	144508325	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144508325C>T	uc003qks.3	+	2	753	c.561C>T	c.(559-561)GAC>GAT	p.D187D		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	187					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTAAGTGGGACGTGTTTTCCG	0.637		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.004007	0	16	49				
UTRN	7402	broad.mit.edu	37	6	144820449	144820449	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144820449G>A	uc003qkt.2	+	33	4742	c.4650G>A	c.(4648-4650)AAG>AAA	p.K1550K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1550	Interaction with SYNM.|Spectrin 11.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAAAATGAAGAAAGAGGCTG	0.478		NaN											0	0	0	0.020292	0	14	60				
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:5567464G>A	uc003sos.3	-	5	1079	c.1043C>T	c.(1042-1044)TCG>TTG	p.S348L	ACTB_uc003sor.3_Missense_Mutation_p.S226L|ACTB_uc003sot.3_Missense_Mutation_p.S348L|ACTB_uc003soq.3_Missense_Mutation_p.S226L|ACTB_uc010ksy.2_Missense_Mutation_p.S226L	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587		NaN											0	0	0	0.008871	0	17	104				
ZNF716	441234	broad.mit.edu	37	7	57528875	57528875	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:57528875T>C	uc011kdi.1	+	4	820	c.708T>C	c.(706-708)ACT>ACC	p.T236T		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						GAATTCATACTGGAGAGAAAC	0.378		NaN											0	0	0	0.014758	0	5	28				
SEMA3D	223117	broad.mit.edu	37	7	84671572	84671572	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:84671572T>C	uc003uic.2	-	8	931	c.891A>G	c.(889-891)ATA>ATG	p.I297M	SEMA3D_uc010led.2_Missense_Mutation_p.I297M|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	297	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TCCACTTGTTTATCAGGCTGC	0.378		NaN											0	0	0	0.01441	0	193	306				
C7orf43	55262	broad.mit.edu	37	7	99753312	99753312	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:99753312C>G	uc003utr.2	-	9	1557	c.1377G>C	c.(1375-1377)CTG>CTC	p.L459L	C7orf43_uc010lgo.2_Silent_p.L85L|C7orf43_uc010lgp.2_Silent_p.L81L|C7orf43_uc011kjj.1_Silent_p.L227L|C7orf43_uc003uts.2_Silent_p.L190L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	459											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCCGTCCTCAGAGCCTGGA	0.637		NaN											0	0	0	0.01441	0	77	116				
C7orf51	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:100087130G>T	uc003uvd.1	+	4	1945	c.1786G>T	c.(1786-1788)GAT>TAT	p.D596Y	C7orf51_uc003uve.1_Missense_Mutation_p.D378Y	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	596										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAAGGGACCGATGGGGGTGC	0.637		NaN											1	0	9.8876e-21	0.021022	1.07805e-20	34	71				
C7orf58	79974	broad.mit.edu	37	7	120770316	120770316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:120770316G>A	uc003vjq.3	+	12	1992	c.1545G>A	c.(1543-1545)ATG>ATA	p.M515I	C7orf58_uc003vjr.1_Missense_Mutation_p.M515I|C7orf58_uc003vjs.3_Missense_Mutation_p.M515I|C7orf58_uc003vjt.3_Missense_Mutation_p.M295I|C7orf58_uc010lkk.1_Missense_Mutation_p.M295I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	515						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TTCAGTTCATGAATAAAAAGA	0.358		NaN											0	0	0	0.01441	0	48	74				
LRRC4	64101	broad.mit.edu	37	7	127670603	127670603	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:127670603G>A	uc003vmk.2	-	2	228	c.91C>T	c.(91-93)CTG>TTG	p.L31L	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	31						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCTGCACACAGAATCCACACT	0.622		NaN											0	0	0	0.01441	0	59	79				
FAM71F1	84691	broad.mit.edu	37	7	128355645	128355645	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:128355645G>T	uc003vno.1	+	1	203	c.150G>T	c.(148-150)GCG>GCT	p.A50A	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.A50A	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	50										skin(1)	1						ACCCTGGAGCGGGCCTAGGTG	0.537		NaN											1	0	2.44813e-32	0.01441	2.75204e-32	59	85				
INSIG1	3638	broad.mit.edu	37	7	155093959	155093959	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:155093959A>C	uc003wly.2	+	4	749	c.538_splice	c.e4-2	p.K180_splice	INSIG1_uc011kvu.1_Splice_Site_p.K28_splice|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1						cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTATATCACCAGAAATTGGAT	0.378		NaN											0	0	0	0.01441	0	58	87				
PNOC	5368	broad.mit.edu	37	8	28196662	28196662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:28196662G>C	uc010lva.2	+	3	440	c.232G>C	c.(232-234)GAG>CAG	p.E78Q	PNOC_uc003xgp.2_Missense_Mutation_p.E78Q|PNOC_uc011lau.1_Missense_Mutation_p.E14Q	NM_006228	NP_006219	Q13519	PNOC_HUMAN	prepronociceptin precursor	78					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)	1		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TGCCGCCCCAGAGCATGTGGC	0.632		NaN											0	0	0	0.016723	0	11	5				
TEX15	56154	broad.mit.edu	37	8	30702296	30702296	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:30702296G>T	uc003xil.2	-	1	4238	c.4238C>A	c.(4237-4239)GCA>GAA	p.A1413E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1413										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTCCTGATGCTACATCCAA	0.363		NaN											1	0	1.06522e-23	0.013114	1.17716e-23	42	43				
UNC5D	137970	broad.mit.edu	37	8	35584024	35584024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:35584024G>T	uc003xjr.1	+	10	1986	c.1658G>T	c.(1657-1659)GGG>GTG	p.G553V	UNC5D_uc003xjs.1_Missense_Mutation_p.G548V|UNC5D_uc003xju.1_Missense_Mutation_p.G129V|UNC5D_uc003xjt.1_Missense_Mutation_p.G311V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	553	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTTAGGGGGGCGCTTAGTA	0.413		NaN											1	0	6.4771e-29	0.010771	7.23128e-29	41	42				
KCNU1	157855	broad.mit.edu	37	8	36662755	36662755	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:36662755T>C	uc010lvw.2	+	4	507	c.420T>C	c.(418-420)CCT>CCC	p.P140P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	140	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACCATTCCTATTGATTTGG	0.363		NaN											0	0	0	0.00308	0	7	5				
ADAM2	2515	broad.mit.edu	37	8	39607251	39607251	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:39607251G>C	uc003xnj.2	-	17	1885	c.1810C>G	c.(1810-1812)CAA>GAA	p.Q604E	ADAM2_uc003xnk.2_Missense_Mutation_p.Q585E|ADAM2_uc011lck.1_Missense_Mutation_p.Q541E|ADAM2_uc003xnl.2_Missense_Mutation_p.Q448E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	604	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACACATCTTTGATTCCTGCAA	0.343		NaN											0	0	0	0.007835	0	38	94				
CHD7	55636	broad.mit.edu	37	8	61653990	61653990	+	Translation_Start_Site	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:61653990A>T	uc003xue.2	+	2	476	c.-1A>T	c.(-3-1)GAAGA>GATGA			NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTTGGAAGAAGATGGCAGAT	0.478		NaN											0	0	0	0.004672	0	3	12		Valid		
CHD7	55636	broad.mit.edu	37	8	61765060	61765060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:61765060G>C	uc003xue.2	+	30	6375	c.5898G>C	c.(5896-5898)TGG>TGC	p.W1966C		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1966					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTAACAGGTGGACAAGAAGAG	0.383		NaN											0	0	0	0.008291	0	11	33		Valid		
TRHR	7201	broad.mit.edu	37	8	110100398	110100398	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:110100398C>T	uc003ymz.3	+	1	673	c.657C>T	c.(655-657)TTC>TTT	p.F219F		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	219	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAATCCTTTTCTTAAATCCCA	0.358		NaN											0	0	0	0.019004	0	34	119				
RAD21	5885	broad.mit.edu	37	8	117859890	117859890	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117859890A>G	uc003yod.2	-	14	2033	c.1745T>C	c.(1744-1746)CTT>CCT	p.L582P		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	582					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACATAACTCAAGCAAACTGAT	0.378		NaN											0	0	0	0.014323	0	23	101				
RAD21	5885	broad.mit.edu	37	8	117870623	117870623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117870623C>A	uc003yod.2	-	5	737	c.449G>T	c.(448-450)GGG>GTG	p.G150V		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	150					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACTGATGTTCCCAACTTCTTC	0.318		NaN											1	0	3.01185e-09	0.021523	3.147e-09	24	162				
EXT1	2131	broad.mit.edu	37	8	119122781	119122781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:119122781G>A	uc003yok.1	-	1	1278	c.505C>T	c.(505-507)CAG>TAG	p.Q169*		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	169	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCACATACTGAGGTGACAAC	0.483		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	0.01441	0	228	202				
ZHX1	11244	broad.mit.edu	37	8	124267128	124267128	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124267128C>T	uc003yqe.2	-	3	1489	c.1059G>A	c.(1057-1059)AGG>AGA	p.R353R	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.R353R|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.R353R	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	353	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTGTTTCCTTCTTGCCT	0.398		NaN											0	0	0	0.01441	0	284	240				
ATAD2	29028	broad.mit.edu	37	8	124371525	124371525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124371525C>G	uc003yqh.3	-	11	1426	c.1318G>C	c.(1318-1320)GAG>CAG	p.E440Q	ATAD2_uc011lii.1_Missense_Mutation_p.E231Q|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E440Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCACCATCTCTTTTAGAGCT	0.328		NaN											0	0	0	0.01441	0	81	333				
KLHL38	340359	broad.mit.edu	37	8	124664012	124664012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124664012G>C	uc003yqs.1	-	1	1179	c.1155C>G	c.(1153-1155)ATC>ATG	p.I385M		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	385	Kelch 3.										0						CGATGGAGAAGATGAAGTTCT	0.557		NaN											0	0	0	0.009535	0	30	130				
KIAA0196	9897	broad.mit.edu	37	8	126061284	126061284	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:126061284G>A	uc003yrt.2	-	19	2672	c.2343C>T	c.(2341-2343)AAC>AAT	p.N781N	KIAA0196_uc011lir.1_Silent_p.N633N|KIAA0196_uc003yru.1_Silent_p.N355N	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	781					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGCTCCACGTTGTAATTTA	0.323		NaN											0	0	0	0.007413	0	19	94				
KHDRBS3	10656	broad.mit.edu	37	8	136594189	136594189	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594189G>T	uc003yuv.2	+	6	1074	c.680G>T	c.(679-681)GGA>GTA	p.G227V	KHDRBS3_uc003yuw.2_Missense_Mutation_p.G227V|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	227	Interaction with SIAH1.			Missing: Complete loss of SIAH1-mediated degradation.	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACTCCCAGAGGAGTCCTGTCC	0.592		NaN											1	0	4.22769e-11	0.00632	4.47477e-11	29	101				
KHDRBS3	10656	broad.mit.edu	37	8	136594225	136594225	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594225G>T	uc003yuv.2	+	6	1110	c.716G>T	c.(715-717)AGA>ATA	p.R239I	KHDRBS3_uc003yuw.2_Missense_Mutation_p.R239I|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	239	Interaction with SIAH1.			Missing: Complete loss of SIAH1-mediated degradation.	regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGTCGGGGAAGAGGACTTCTC	0.587		NaN											1	0	4.7796e-09	0.004656	4.97812e-09	27	97				
SCRIB	23513	broad.mit.edu	37	8	144895029	144895029	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:144895029G>A	uc003yzp.1	-	8	752	c.745C>T	c.(745-747)CTG>TTG	p.L249L	SCRIB_uc003yzo.1_Silent_p.L249L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	249	LRR 10.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGACAGCAGCAGGTCAGTG	0.701		NaN											0	0	0	0.009096	0	3	18				
ADCK5	203054	broad.mit.edu	37	8	145608287	145608287	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:145608287C>G	uc003zch.2	+	3	176	c.122C>G	c.(121-123)TCC>TGC	p.S41C	ADCK5_uc003zcg.2_RNA	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	41						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCAGGTTCTCCAGCCCCACA	0.672		NaN											0	0	0	0.009096	0	2	2				
GLDC	2731	broad.mit.edu	37	9	6589258	6589258	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:6589258C>G	uc003zkc.2	-	12	1710	c.1517G>C	c.(1516-1518)AGA>ACA	p.R506T		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	506					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGAATACCTCTGCACTCCTC	0.517		NaN											0	0	0	0.007835	0	40	40				
PTPRD	5789	broad.mit.edu	37	9	8518200	8518200	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:8518200A>T	uc003zkk.2	-	20	1902	c.1191T>A	c.(1189-1191)AAT>AAA	p.N397K	PTPRD_uc003zkp.2_Missense_Mutation_p.N397K|PTPRD_uc003zkq.2_Missense_Mutation_p.N397K|PTPRD_uc003zkr.2_Missense_Mutation_p.N391K|PTPRD_uc003zks.2_Missense_Mutation_p.N387K|PTPRD_uc003zkl.2_Missense_Mutation_p.N397K|PTPRD_uc003zkm.2_Missense_Mutation_p.N384K|PTPRD_uc003zkn.2_Missense_Mutation_p.N397K|PTPRD_uc003zko.2_Missense_Mutation_p.N394K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	397	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCAATGTTATTGACAGCAA	0.522		NaN								TSP Lung(15;0.13)			0	0	0	0.01441	0	57	186				
KLHL9	55958	broad.mit.edu	37	9	21334596	21334596	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:21334596T>C	uc003zoy.2	-	1	834	c.263A>G	c.(262-264)CAA>CGA	p.Q88R	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	88	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CATCAAATCTTGTTCTTTCAT	0.378		NaN											0	0	0	0.01441	0	72	266				
IFT74	80173	broad.mit.edu	37	9	26984496	26984496	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:26984496G>A	uc010mja.2	+	6	532	c.405_splice	c.e6-1	p.R135_splice	IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TATGCTTTCAGGGCTGAGACT	0.269		NaN											0	0	0	0.01441	0	70	143				
KIAA1161	57462	broad.mit.edu	37	9	34372097	34372097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:34372097C>T	uc003zue.3	-	3	1012	c.845G>A	c.(844-846)CGA>CAA	p.R282Q		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	282	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CACGCACACTCGGTAGCTCAG	0.662		NaN											0	0	0	0.00308	0	7	35				
C9orf131	138724	broad.mit.edu	37	9	35044993	35044993	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35044993C>G	uc003zvw.2	+	2	2396	c.2367C>G	c.(2365-2367)CTC>CTG	p.L789L	C9orf131_uc003zvu.2_Silent_p.L741L|C9orf131_uc003zvv.2_Silent_p.L716L|C9orf131_uc003zvx.2_Silent_p.L754L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	789											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTGAAACTCAGGCTGAAGA	0.567		NaN											0	0	0	0.01441	0	103	173				
TLN1	7094	broad.mit.edu	37	9	35697854	35697854	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35697854C>T	uc003zxt.2	-	57	7914	c.7560G>A	c.(7558-7560)AAG>AAA	p.K2520K		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2520	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCAGTTTCTTCCGCGCCT	0.532		NaN									OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016723	0	14	64				
TJP2	9414	broad.mit.edu	37	9	71844146	71844146	+	Silent	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:71844146T>G	uc004ahe.2	+	10	1700	c.1500T>G	c.(1498-1500)CCT>CCG	p.P500P	TJP2_uc011lrs.1_Silent_p.P477P|TJP2_uc011lrt.1_Silent_p.P477P|TJP2_uc004ahd.2_Silent_p.P500P|TJP2_uc004ahf.2_Silent_p.P500P|TJP2_uc011lru.1_Silent_p.P504P|TJP2_uc011lrv.1_Silent_p.P522P	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	500					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GTCCTAGTCCTGAAGATGAAG	0.423		NaN											0	0	0	0.01441	0	66	55				
TRPM6	140803	broad.mit.edu	37	9	77377272	77377272	+	Missense_Mutation	SNP	G	G	A	rs144291419		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:77377272G>A	uc004ajl.1	-	26	4553	c.4315C>T	c.(4315-4317)CCT>TCT	p.P1439S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1434S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P395S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1439	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGGGAAAGAGGGGAGCTCATT	0.463		NaN											0	0	0	0.004656	0	25	69				
PCSK5	5125	broad.mit.edu	37	9	78784732	78784732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:78784732C>T	uc004ajz.2	+	13	2270	c.1732C>T	c.(1732-1734)CAG>TAG	p.Q578*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.Q578*|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	578	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						TACTCCCTCTCAGCTAAGGAA	0.428		NaN											0	0	0	0.01441	0	51	89				
BICD2	23299	broad.mit.edu	37	9	95477535	95477535	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:95477535G>A	uc004aso.1	-	7	2526	c.2469C>T	c.(2467-2469)AGC>AGT	p.S823S	BICD2_uc004asp.1_Silent_p.S823S	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	823					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGTGACTTACGCTCGGTGTGG	0.652		NaN											0	0	0	0.00308	0	5	4				
PTCH1	5727	broad.mit.edu	37	9	98221997	98221997	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:98221997C>A	uc004avk.3	-	17	2960	c.2772G>T	c.(2770-2772)ACG>ACT	p.T924T	PTCH1_uc010mro.2_Silent_p.T773T|PTCH1_uc010mrp.2_Silent_p.T773T|PTCH1_uc010mrq.2_Silent_p.T773T|PTCH1_uc004avl.3_Silent_p.T773T|PTCH1_uc010mrr.2_Silent_p.T858T|PTCH1_uc004avm.3_Silent_p.T923T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	924	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACCCAAGCCGTCAGGTAGA	0.552		NaN							Basal_Cell_Nevus_syndrome				1	0	3.5997e-14	0.014323	3.83497e-14	24	29				
ZNF322B	387328	broad.mit.edu	37	9	99960733	99960733	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:99960733G>A	uc004axd.1	-	1	1178	c.1061C>T	c.(1060-1062)ACT>ATT	p.T354I	uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	NM_199005	NP_945356			zinc finger protein 322B												0		Acute lymphoblastic leukemia(62;0.158)				ATCACATACAGTGTATTTATA	0.433		NaN											0	0	0	0.01441	0	61	128				
SMC2	10592	broad.mit.edu	37	9	106894304	106894304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:106894304G>C	uc004bbv.2	+	22	3294	c.3006G>C	c.(3004-3006)ATG>ATC	p.M1002I	SMC2_uc004bbw.2_Missense_Mutation_p.M1002I|SMC2_uc011lvl.1_Missense_Mutation_p.M1002I|SMC2_uc004bbx.2_Missense_Mutation_p.M1002I|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1002	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						ATGACTTGATGAAGAAGAAGA	0.303		NaN											0	0	0	0.021523	0	26	24				
CRAT	1384	broad.mit.edu	37	9	131864786	131864786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:131864786G>C	uc004bxh.2	-	5	805	c.523C>G	c.(523-525)CAG>GAG	p.Q175E	CRAT_uc004bxg.2_Missense_Mutation_p.Q154E|CRAT_uc004bxk.3_Missense_Mutation_p.Q154E	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	175					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GACAAGATCTGATAGTACTGG	0.597		NaN											0	0	0	0.01441	0	89	170				
DMD	1756	broad.mit.edu	37	X	32662325	32662325	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:32662325C>T	uc004dda.1	-	11	1499	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K	DMD_uc004dcz.2_Missense_Mutation_p.E296K|DMD_uc004dcy.1_Missense_Mutation_p.E415K|DMD_uc004ddb.1_Missense_Mutation_p.E411K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E411K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	419	Spectrin 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTACTTCAGTTTCTTCA	0.388		NaN											0	0	0	0.01441	0	134	24				
FAM47A	158724	broad.mit.edu	37	X	34150089	34150089	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:34150089G>A	uc004ddg.2	-	1	340	c.307C>T	c.(307-309)CTA>TTA	p.L103L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	103										ovary(4)|central_nervous_system(1)	5						TTGGAAAATAGGGCCGCTTTC	0.542		NaN											0	0	0	0.01441	0	94	14				
CXorf22	170063	broad.mit.edu	37	X	35959432	35959432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:35959432C>G	uc004ddj.2	+	3	493	c.434C>G	c.(433-435)TCA>TGA	p.S145*	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	145										large_intestine(1)|lung(1)|ovary(1)	3						GAAATTGAATCAGTAGTTAAT	0.358		NaN											0	0	0	0.009535	0	29	52				
PLP2	5355	broad.mit.edu	37	X	49029745	49029745	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:49029745G>A	uc004dmx.2	+	3	335	c.260G>A	c.(259-261)CGA>CAA	p.R87Q		NM_002668	NP_002659	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic	87	Helical; (Potential).|MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity				0						GATTTCTTCCGAACCCTCATA	0.532		NaN											0	0	0	0.015359	0	31	47				
CCNB3	85417	broad.mit.edu	37	X	50031856	50031856	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:50031856A>G	uc004dox.3	+	4	471	c.173A>G	c.(172-174)AAA>AGA	p.K58R	CCNB3_uc004doy.2_Missense_Mutation_p.K58R|CCNB3_uc004doz.2_Missense_Mutation_p.K58R|CCNB3_uc010njq.2_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	58					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGAGCACTCAAAAAGAGATCA	0.413		NaN											0	0	0	0.006122	0	19	3				
KIAA2022	340533	broad.mit.edu	37	X	73962682	73962682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:73962682C>G	uc004eby.2	-	3	2327	c.1710G>C	c.(1708-1710)TTG>TTC	p.L570F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	570					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GATTCTCACTCAAATTCACTG	0.418		NaN											0	0	0	0.007835	0	39	56				
STAG2	10735	broad.mit.edu	37	X	123190029	123190029	+	Silent	SNP	G	G	T	rs142571900		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:123190029G>T	uc004etz.3	+	13	1587	c.1248G>T	c.(1246-1248)CTG>CTT	p.L416L	STAG2_uc004eua.2_Silent_p.L416L|STAG2_uc004eub.2_Silent_p.L416L|STAG2_uc004euc.2_Silent_p.L416L|STAG2_uc004eud.2_Silent_p.L416L|STAG2_uc004eue.2_Silent_p.L416L	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	416					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TCTATCATCTGGTTTATTCAG	0.368		NaN											1	0	3.43241e-23	0.009718	3.78029e-23	37	53				
DCAF12L1	139170	broad.mit.edu	37	X	125686323	125686323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:125686323C>T	uc004eul.2	-	1	520	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	90										skin(3)|ovary(1)	4						CTCCAGTTGGCGCTCCGTCAG	0.662		NaN											0	0	0	0.00499	0	16	24				
MCF2	4168	broad.mit.edu	37	X	138672035	138672035	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:138672035C>G	uc004fau.2	-	20	2623	c.2329G>C	c.(2329-2331)GAA>CAA	p.E777Q	MCF2_uc004fav.2_Missense_Mutation_p.E793Q|MCF2_uc011mwl.1_Missense_Mutation_p.E754Q|MCF2_uc010nsh.1_Missense_Mutation_p.E777Q|MCF2_uc011mwm.1_Missense_Mutation_p.E738Q|MCF2_uc011mwn.1_Missense_Mutation_p.E922Q|MCF2_uc004faw.2_Missense_Mutation_p.E837Q|MCF2_uc011mwo.1_Missense_Mutation_p.E853Q	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	777	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TACCAGATTTCAAACTTGCGG	0.318		NaN											0	0	0	0.021523	0	26	50				
MEGF6	1953	broad.mit.edu	37	1	3407103	3407103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:3407103C>T	uc001akl.2	-	37	4842	c.4615G>A	c.(4615-4617)GCG>ACG	p.A1539T	MEGF6_uc001akk.2_Missense_Mutation_p.A1227T	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1539						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TAGTGCCTCGCTGGTCCACCG	0.672		NaN											0	0	0	0.740014	0	30	58				
GPR157	80045	broad.mit.edu	37	1	9164616	9164616	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:9164616G>C	uc001apq.1	-	4	1013	c.870C>G	c.(868-870)CTC>CTG	p.L290L	GPR157_uc010oad.1_Silent_p.L225L	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	290	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGAGAGAAGAGCCGAGTTC	0.612		NaN											0	0	0	0.740014	0	19	64				
PRAMEF18	391003	broad.mit.edu	37	1	13475073	13475073	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:13475073C>T	uc009vnu.1	-	3	1103	c.1056G>A	c.(1054-1056)CAG>CAA	p.Q352Q		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	352											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGTCTGAAGAGTGG	0.547		NaN											0	0	0	0.870114	0	145	223				
LPHN2	23266	broad.mit.edu	37	1	82456786	82456786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:82456786G>C	uc001dit.3	+	21	4350	c.4169G>C	c.(4168-4170)GGA>GCA	p.G1390A	LPHN2_uc001dis.2_Missense_Mutation_p.G370A|LPHN2_uc001diu.2_Missense_Mutation_p.G1390A|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.G1017A	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1446	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		attccagAAGGAGATGTTAGA	0.199		NaN											0	0	0	0.335167	0	10	9				
GBP6	163351	broad.mit.edu	37	1	89849217	89849217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:89849217G>C	uc001dnf.2	+	9	1646	c.1372G>C	c.(1372-1374)GAG>CAG	p.E458Q	GBP6_uc010ost.1_Missense_Mutation_p.E328Q	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	458							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATAGGCAAAAGAGGTCTTCCA	0.408		NaN											0	0	0	0.667858	0	23	24				
OLFM3	118427	broad.mit.edu	37	1	102302527	102302527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:102302527C>T	uc001duf.2	-	2	255	c.184G>A	c.(184-186)GAT>AAT	p.D62N	OLFM3_uc001dug.2_Missense_Mutation_p.D42N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	62						extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCGCCCATCAGGATCCTGA	0.488		NaN											0	0	0	0.796494	0	36	39				
PDE4DIP	9659	broad.mit.edu	37	1	144864168	144864168	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864168T>G	uc001elw.3	-	36	6218	c.5927A>C	c.(5926-5928)GAG>GCG	p.E1976A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1870A|PDE4DIP_uc001elv.3_Missense_Mutation_p.E983A|PDE4DIP_uc001ema.2_Missense_Mutation_p.E163A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1976	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGACGTTCCTCCCTGAAATG	0.448		NaN	T	PDGFRB	MPD								0	0	0	0.870114	0	106	453				
PDE4DIP	9659	broad.mit.edu	37	1	144864203	144864203	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:144864203C>G	uc001elw.3	-	36	6183	c.5892G>C	c.(5890-5892)TTG>TTC	p.L1964F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1858F|PDE4DIP_uc001elv.3_Missense_Mutation_p.L971F|PDE4DIP_uc001ema.2_Missense_Mutation_p.L151F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1964	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTCCCTCAAGTCTTCCA	0.547		NaN	T	PDGFRB	MPD								0	0	0	0.870114	0	78	444				
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:153907303C>T	uc001fdd.1	-	18	3107	c.2706G>A	c.(2704-2706)CAG>CAA	p.Q902Q	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.468		NaN											0	0	0	0.248553	0	5	69				
TNR	7143	broad.mit.edu	37	1	175324643	175324643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:175324643C>T	uc001gkp.1	-	15	3326	c.3245G>A	c.(3244-3246)CGC>CAC	p.R1082H	TNR_uc009wwu.1_Missense_Mutation_p.R1082H	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1082	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TCTCACCTTGCGGCTTCCATC	0.512		NaN											0	0	0	0.804634	0	35	66				
KCNT2	343450	broad.mit.edu	37	1	196434452	196434452	+	Silent	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:196434452T>A	uc001gtd.1	-	8	669	c.609A>T	c.(607-609)ATA>ATT	p.I203I	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I203I|KCNT2_uc001gtf.1_Silent_p.I203I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I203I|KCNT2_uc009wyv.1_Silent_p.I178I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	203	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GTAATGTAGATATTAAAATCA	0.269		NaN											0	0	0	0.217242	0	5	68				
FAM171A1	221061	broad.mit.edu	37	10	15326047	15326047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:15326047G>A	uc001iob.2	-	2	162	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	52	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CTCGATGAGCGCATCTGCTAC	0.552		NaN											0	0	0	0.779181	0	33	45				
SVIL	6840	broad.mit.edu	37	10	29752434	29752434	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:29752434G>C	uc001iut.1	-	35	7017	c.6264C>G	c.(6262-6264)CTC>CTG	p.L2088L	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.L1002L|SVIL_uc001iuu.1_Silent_p.L1662L	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2088	Gelsolin-like 5.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGCAGTACTGGAGCACAGTCT	0.617		NaN											0	0	0	0.435327	0	12	43				
CTNNA3	29119	broad.mit.edu	37	10	68381455	68381455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:68381455G>A	uc009xpn.1	-	10	1492	c.1369C>T	c.(1369-1371)CCA>TCA	p.P457S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P457S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P457S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	457					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CATACCTGTGGACACAAGGTT	0.279		NaN											0	0	0	0.38729	0	11	25				
PBLD	64081	broad.mit.edu	37	10	70048339	70048339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70048339G>C	uc001jns.1	-	8	795	c.592C>G	c.(592-594)CTT>GTT	p.L198V	PBLD_uc001jnr.1_Missense_Mutation_p.L165V|PBLD_uc001jnt.1_Missense_Mutation_p.L198V|PBLD_uc001jnu.1_Missense_Mutation_p.L198V|PBLD_uc001jnv.1_3'UTR	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	198					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TTAAGGGTAAGAATAAGCCCT	0.468		NaN											0	0	0	0.870114	0	58	61				
DNA2	1763	broad.mit.edu	37	10	70190242	70190242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:70190242G>A	uc001jof.2	-	14	2417	c.2417C>T	c.(2416-2418)TCA>TTA	p.S806L	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	720					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						AATGGACTTTGATCTGCAAAT	0.348		NaN											0	0	0	0.27861	0	7	13				
TLL2	7093	broad.mit.edu	37	10	98155634	98155634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:98155634C>G	uc001kml.1	-	12	1754	c.1528G>C	c.(1528-1530)GAG>CAG	p.E510Q	TLL2_uc009xvf.1_Missense_Mutation_p.E488Q	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	510	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCACTCACCTCAAAAGCTTGG	0.478		NaN									OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.859065	0	42	61				
SFRP5	6425	broad.mit.edu	37	10	99527601	99527601	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:99527601G>T	uc001kor.3	-	3	790	c.624C>A	c.(622-624)ATC>ATA	p.I208I		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5 precursor	208	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TGATCTCCTTGATGCGCATTT	0.542		NaN											1	0	2.96211e-45	0.870114	3.45253e-45	107	228				
SORCS1	114815	broad.mit.edu	37	10	108439408	108439408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr10:108439408T>C	uc001kym.2	-	11	1653	c.1645A>G	c.(1645-1647)AGC>GGC	p.S549G	SORCS1_uc001kyl.2_Missense_Mutation_p.S549G|SORCS1_uc009xxs.2_Missense_Mutation_p.S549G|SORCS1_uc001kyn.1_Missense_Mutation_p.S549G|SORCS1_uc001kyo.2_Missense_Mutation_p.S549G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	549	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTATGATGCTTGGAGCTGTG	0.413		NaN											0	0	0	0.539581	0	15	17				
MRGPRE	116534	broad.mit.edu	37	11	3249613	3249613	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:3249613C>T	uc001lxq.3	-	2	724	c.414G>A	c.(412-414)CTG>CTA	p.L138L		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	138	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACAGGTGGTCAGGTGGCGTG	0.706		NaN											0	0	0	0.479597	0	13	18				
OR51S1	119692	broad.mit.edu	37	11	4870194	4870194	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:4870194A>T	uc010qyo.1	-	1	245	c.245T>A	c.(244-246)GTC>GAC	p.V82D		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGCAGTGACCAATCCAAT	0.547		NaN											0	0	0	0.608945	0	21	65				
IMMP1L	196294	broad.mit.edu	37	11	31455050	31455050	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:31455050C>A	uc001msy.1	-	6	585	c.389G>T	c.(388-390)GGA>GTA	p.G130V	IMMP1L_uc001msz.1_Missense_Mutation_p.G130V	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	130					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					TGGAATAGGTCCATAGCACCT	0.368		NaN											1	0	7.04047e-22	0.812448	7.79323e-22	36	56				
POLA2	23649	broad.mit.edu	37	11	65046238	65046238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:65046238C>T	uc001odj.2	+	6	841	c.499C>T	c.(499-501)CGA>TGA	p.R167*	POLA2_uc009yqf.1_Nonsense_Mutation_p.R167*|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	167					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	ACGAAGTAACCGAGGAGAAGT	0.453		NaN											0	0	0	0.870114	0	66	169				
PCF11	51585	broad.mit.edu	37	11	82877720	82877720	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:82877720C>T	uc001ozx.3	+	5	2126	c.1781C>T	c.(1780-1782)GCC>GTC	p.A594V	PCF11_uc010rsu.1_Missense_Mutation_p.A594V	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	594					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TCCAAGTCTGCCAAAAGATGG	0.358		NaN											0	0	0	0.840704	0	43	78				
BACE1	23621	broad.mit.edu	37	11	117164662	117164662	+	Silent	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:117164662G>C	uc001pqz.2	-	4	1091	c.630C>G	c.(628-630)CTC>CTG	p.L210L	BACE1_uc001pqw.2_Intron|BACE1_uc001pqx.2_Intron|BACE1_uc001pqy.2_Silent_p.L166L|BACE1_uc001pra.1_3'UTR|BACE1_uc010rxg.1_Intron|BACE1_uc010rxh.1_Silent_p.L110L|BACE1_uc009yzo.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	210	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCAGGGAGAAGAGGTTGGGAA	0.567		NaN											0	0	0	0.870114	0	57	73				
TECTA	7007	broad.mit.edu	37	11	121028601	121028601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr11:121028601C>T	uc010rzo.1	+	13	4357	c.4357C>T	c.(4357-4359)CGT>TGT	p.R1453C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1453					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGCTGTTTCCGTCGCAACGT	0.602		NaN											0	0	0	0.361761	0	9	177				
TEAD4	7004	broad.mit.edu	37	12	3128321	3128321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:3128321C>T	uc010sej.1	+	8	842	c.565C>T	c.(565-567)CCG>TCG	p.P189S	TEAD4_uc010sek.1_Missense_Mutation_p.P146S|TEAD4_uc001qln.2_Missense_Mutation_p.P61S	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TGTCCAGCCTCCGCTGCCTCT	0.682		NaN											0	0	0	0.870114	0	67	91				
TAS2R13	50838	broad.mit.edu	37	12	11061864	11061864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:11061864C>G	uc001qzg.1	-	1	298	c.34G>C	c.(34-36)GTA>CTA	p.V12L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	12	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						GCAATTATTACAAGAGTGAAG	0.388		NaN											0	0	0	0.457914	0	12	27				
ANP32D	23519	broad.mit.edu	37	12	48866717	48866717	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:48866717C>T	uc010slt.1	+	1	270	c.270C>T	c.(268-270)CTC>CTT	p.L90L		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	90	LRR 4.									ovary(1)|central_nervous_system(1)	2						GTCCAAACCTCATACATCTAA	0.398		NaN											0	0	0	0.796494	0	35	53				
MLL2	8085	broad.mit.edu	37	12	49425078	49425078	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49425078C>G	uc001rta.3	-	39	13410	c.13410G>C	c.(13408-13410)AAG>AAC	p.K4470N		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4470					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GTTGCACATTCTTTGCCCGGA	0.617		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.870114	0	92	135		Valid		
MLL2	8085	broad.mit.edu	37	12	49427906	49427906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:49427906C>A	uc001rta.3	-	38	10684	c.10684G>T	c.(10684-10686)GAG>TAG	p.E3562*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3562	Potential.|Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGAGCTTCTCAGCATCAGCT	0.547		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	3.4887e-51	0.870114	4.12088e-51	77	113		Valid		
HOXC11	3227	broad.mit.edu	37	12	54367330	54367330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:54367330G>A	uc001sem.2	+	1	421	c.305G>A	c.(304-306)CGG>CAG	p.R102Q		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	102					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTATGCACCGGGAGTGCCTG	0.672		NaN	T	NUP98	AML								0	0	0	0.870114	0	205	294				
SMARCC2	6601	broad.mit.edu	37	12	56567574	56567574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:56567574C>T	uc001skb.2	-	17	1662	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	SMARCC2_uc001skd.2_Missense_Mutation_p.R519Q|SMARCC2_uc001ska.2_Missense_Mutation_p.R519Q|SMARCC2_uc001skc.2_Missense_Mutation_p.R519Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.R408Q	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	519	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGGTTGGTCGACTCTCAGC	0.577		NaN											0	0	0	0.870114	0	141	233		Valid		
SYT1	6857	broad.mit.edu	37	12	79611344	79611344	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:79611344C>A	uc001sys.2	+	5	716	c.45C>A	c.(43-45)GTC>GTA	p.V15V	SYT1_uc001syt.2_Silent_p.V15V|SYT1_uc001syu.2_Silent_p.V15V|SYT1_uc001syv.2_Silent_p.V15V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	15	Vesicular (Potential).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						CCCCGCCTGTCACCACTGTCG	0.517		NaN											1	0	3.08376e-08	0.654019	3.1926e-08	18	25				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:132547087G>A	uc001ujn.2	+	46	8210	c.8175G>A	c.(8173-8175)CAG>CAA	p.Q2725Q	EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.289		NaN											0	0	0	0.27861	0	6	66				
P2RX2	22953	broad.mit.edu	37	12	133196152	133196152	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr12:133196152C>A	uc001ukj.1	+	2	301	c.301C>A	c.(301-303)CCC>ACC	p.P101T	P2RX2_uc001uki.1_Missense_Mutation_p.P101T|P2RX2_uc001ukk.1_Missense_Mutation_p.P101T|P2RX2_uc001ukl.1_Missense_Mutation_p.P101T|P2RX2_uc001ukm.1_Missense_Mutation_p.A78D|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.P101T|P2RX2_uc001uko.1_Missense_Mutation_p.P101T	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	101	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTACGTGAAGCCCCCCGAGGT	0.577		NaN											1	0	3.05275e-18	0.864702	3.25626e-18	46	88				
ZC3H13	23091	broad.mit.edu	37	13	46539484	46539484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr13:46539484C>T	uc010tfw.1	-	15	4408	c.4402G>A	c.(4402-4404)GAA>AAA	p.E1468K	ZC3H13_uc001vaq.2_Missense_Mutation_p.E53K|ZC3H13_uc001vas.1_Missense_Mutation_p.E1469K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1468							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATCTAGTTCGTCATCACTG	0.438		NaN											0	0	0	0.307466	0	9	124				
FOS	2353	broad.mit.edu	37	14	75745827	75745827	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:75745827G>A	uc001xrn.2	+	1	346	c.141_splice	c.e1+1	p.Q47_splice	FOS_uc010tva.1_Splice_Site_p.Q47_splice|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank	NM_005252	NP_005243	P01100	FOS_HUMAN	v-fos FBJ murine osteosarcoma viral oncogene						cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|ovary(1)	3		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CAACGCGCAGGTAAGGCTGGC	0.692		NaN											0	0	0	0.870114	0	41	62				
SETD3	84193	broad.mit.edu	37	14	99866554	99866554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr14:99866554C>T	uc001ygc.2	-	12	1390	c.1220G>A	c.(1219-1221)AGA>AAA	p.R407K		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	407					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTGAAGATTCTATCAATAGC	0.333		NaN											0	0	0	0.870114	0	54	102				
C15orf2	23742	broad.mit.edu	37	15	24921378	24921378	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:24921378A>C	uc001ywo.2	+	1	838	c.364A>C	c.(364-366)ATG>CTG	p.M122L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	122					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCAGCCGCATGTTCACTCT	0.647		NaN											0	0	0	0.870114	0	65	129				
DTWD1	56986	broad.mit.edu	37	15	49926748	49926748	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:49926748C>A	uc001zxq.2	+	5	701	c.424C>A	c.(424-426)CCT>ACT	p.P142T	DTWD1_uc001zxs.2_Missense_Mutation_p.P142T|DTWD1_uc001zxr.2_Missense_Mutation_p.P55T|DTWD1_uc001zxo.2_Missense_Mutation_p.P142T	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	142											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ACTCATTTTTCCTGGACCTCA	0.308		NaN											1	0	8.16277e-20	0.827153	8.81379e-20	35	51				
SCG3	29106	broad.mit.edu	37	15	51975502	51975502	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:51975502G>C	uc002abh.2	+	4	676	c.268G>C	c.(268-270)GAA>CAA	p.E90Q	SCG3_uc010ufz.1_5'UTR	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	90					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		AATTGAGAAAGAAAGACAATC	0.358		NaN											0	0	0	0.870114	0	98	144				
HCN4	10021	broad.mit.edu	37	15	73624589	73624589	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:73624589G>T	uc002avp.2	-	3	2248	c.1254C>A	c.(1252-1254)ATC>ATA	p.I418I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	418	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TGAGGTTCACGATGCGCACCA	0.612		NaN											1	0	1.1794e-34	0.870114	1.3567e-34	70	96				
RPP25	54913	broad.mit.edu	37	15	75248520	75248520	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:75248520G>A	uc002azj.1	-	1	1256	c.405C>T	c.(403-405)CTC>CTT	p.L135L		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	ribonuclease P 25kDa subunit	135					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding				0						GTAGGATGGCGAGGCCGGGCA	0.697		NaN											0	0	0	0.479597	0	15	19				
CHD2	1106	broad.mit.edu	37	15	93563313	93563313	+	Missense_Mutation	SNP	G	G	T	rs61752830		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:93563313G>T	uc002bsp.2	+	38	5553	c.4978G>T	c.(4978-4980)GAC>TAC	p.D1660Y	CHD2_uc002bso.1_Missense_Mutation_p.D1660Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1660					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGGGGAAGCGACAGGCACCA	0.512		NaN											1	0	1.1804e-14	0.667858	1.24401e-14	25	42				
ADAMTS17	170691	broad.mit.edu	37	15	100673517	100673517	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:100673517G>A	uc002bvv.1	-	11	1556	c.1477C>T	c.(1477-1479)CTA>TTA	p.L493L	ADAMTS17_uc002bvx.1_Silent_p.L250L	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	493	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		gcacacattagatgctGCAGG	0.244		NaN											0	0	0	0.248553	0	6	18				
C16orf91	283951	broad.mit.edu	37	16	1476162	1476162	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:1476162G>T	uc010uvd.1	-	3	461	c.461C>A	c.(460-462)GCT>GAT	p.A154D		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	127	Cytoplasmic (Potential).					integral to membrane					0						GGACCTGGGAGCACCCACTGT	0.637		NaN											1	0	2.59497e-14	0.834066	2.71854e-14	43	270				
CORO7	79585	broad.mit.edu	37	16	4411441	4411441	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:4411441C>T	uc002cwh.3	-	17	1728	c.1608G>A	c.(1606-1608)ACG>ACA	p.T536T	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.T536T|CORO7_uc002cwg.3_Silent_p.T316T|CORO7_uc010uxh.1_Silent_p.T518T|CORO7_uc010uxi.1_Silent_p.T451T|CORO7_uc002cwi.1_Silent_p.T316T|CORO7_uc010uxj.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	536						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TGGGCAGTGCCGTGTCGGGCA	0.687		NaN											0	0	0	0.804634	0	35	95				
SRCAP	10847	broad.mit.edu	37	16	30723437	30723437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30723437G>C	uc002dze.1	+	12	2159	c.1774G>C	c.(1774-1776)GAA>CAA	p.E592Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E449Q|SRCAP_uc010bzz.1_Missense_Mutation_p.E162Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	592					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGCAGCAGCTGAAAGTCTCCA	0.542		NaN											0	0	0	0.847076	0	42	85		Valid		
SRCAP	10847	broad.mit.edu	37	16	30724116	30724116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724116G>A	uc002dze.1	+	14	2495	c.2110G>A	c.(2110-2112)GAG>AAG	p.E704K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E561K|SRCAP_uc010bzz.1_Missense_Mutation_p.E274K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	704	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCCAGAAAGAGAGGAAGCT	0.463		NaN											0	0	0	0.870114	0	77	125		Valid		
SRCAP	10847	broad.mit.edu	37	16	30724634	30724634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:30724634G>C	uc002dze.1	+	15	2621	c.2236G>C	c.(2236-2238)GAT>CAT	p.D746H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D603H|SRCAP_uc010bzz.1_Missense_Mutation_p.D316H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	746	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TCTCATTCTGGATGAGGCGCA	0.527		NaN											0	0	0	0.870114	0	96	132		Valid		
ABCC12	94160	broad.mit.edu	37	16	48177903	48177903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:48177903C>T	uc002efc.1	-	2	539	c.193G>A	c.(193-195)GTG>ATG	p.V65M	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V65M|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	65						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGCCTTTCACCATCACCGGC	0.547		NaN											0	0	0	0.788014	0	38	65				
CDH15	1013	broad.mit.edu	37	16	89261395	89261395	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:89261395G>A	uc002fmt.2	+	14	2354	c.2277G>A	c.(2275-2277)GAG>GAA	p.E759E		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	759	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGGCGATGAGGACCAGGACT	0.657		NaN											0	0	0	0.706142	0	28	32				
ALOX12B	242	broad.mit.edu	37	17	7976982	7976982	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:7976982G>T	uc002gjy.1	-	13	2009	c.1748C>A	c.(1747-1749)ACA>AAA	p.T583K		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	583	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TACCTGGCCTGTGTTGACAGC	0.358		NaN								Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.20262e-25	0.769981	2.45355e-25	33	63				
MED24	9862	broad.mit.edu	37	17	38178227	38178227	+	Silent	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:38178227G>T	uc002htt.2	-	23	2917	c.2604C>A	c.(2602-2604)GCC>GCA	p.A868A	MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'UTR|MED24_uc010wer.1_Silent_p.A203A|MED24_uc010wes.1_Silent_p.A728A|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.A893A|MED24_uc002htu.2_Silent_p.A855A|MED24_uc010cwn.2_Silent_p.A855A|MED24_uc010weu.1_Silent_p.A778A|MED24_uc010wev.1_Silent_p.A818A	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	868					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					AAAGGATGTTGGCATCGTCCT	0.587		NaN											1	0	8.79861e-51	0.870114	1.03237e-50	75	129				
BRCA1	672	broad.mit.edu	37	17	41246211	41246211	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:41246211C>G	uc002icq.2	-	10	1569	c.1337G>C	c.(1336-1338)AGA>ACA	p.R446T	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R375T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R399T|BRCA1_uc002ict.2_Missense_Mutation_p.R446T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R446T|BRCA1_uc002ide.1_Missense_Mutation_p.R277T|BRCA1_uc010cyy.1_Missense_Mutation_p.R446T|BRCA1_uc010whs.1_Missense_Mutation_p.R446T|BRCA1_uc010cyz.2_Missense_Mutation_p.R399T|BRCA1_uc010cza.2_Missense_Mutation_p.R420T|BRCA1_uc010wht.1_Missense_Mutation_p.R150T	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	446					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGTGAACTCTTTCACTTTT	0.378		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			0	0	0	0.864702	0	47	70				
SCN4A	6329	broad.mit.edu	37	17	62020234	62020234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:62020234C>T	uc002jds.1	-	23	4317	c.4240G>A	c.(4240-4242)GTT>ATT	p.V1414I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1414	Helical; Name=S3 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTCCAGCCAACGGTGAAGTAG	0.572		NaN											0	0	0	0.870114	0	63	190				
GRIN2C	2905	broad.mit.edu	37	17	72843023	72843023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:72843023A>C	uc002jlt.1	-	10	2194	c.2038T>G	c.(2038-2040)TTC>GTC	p.F680V	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.F680V	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	680	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGTGCCGAAGCGGAAAGGT	0.612		NaN											0	0	0	0.870114	0	104	260				
GGA3	23163	broad.mit.edu	37	17	73235616	73235616	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73235616G>A	uc002jni.1	-	14	1629	c.1620C>T	c.(1618-1620)CTC>CTT	p.L540L	GGA3_uc002jnj.1_Silent_p.L507L|GGA3_uc010wrw.1_Silent_p.L418L|GGA3_uc002jnk.1_Silent_p.L468L|GGA3_uc010wrx.1_Silent_p.L418L|GGA3_uc010wry.1_Silent_p.L468L	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	540	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGTGGGGATGAGAGGGGAGG	0.667		NaN									OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.27861	0	8	24				
SLC25A19	60386	broad.mit.edu	37	17	73269536	73269536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:73269536C>T	uc002jns.3	-	6	1869	c.959G>A	c.(958-960)CGC>CAC	p.R320H	SLC25A19_uc010dge.2_Missense_Mutation_p.R263H|SLC25A19_uc002jnv.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnu.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnw.3_Missense_Mutation_p.R320H|SLC25A19_uc002jnt.3_Missense_Mutation_p.R320H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	320						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CTGCACTCAGCGCTGGCTGGC	0.567		NaN											0	0	0	0.870114	0	46	185				
GAA	2548	broad.mit.edu	37	17	78079575	78079575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:78079575G>T	uc002jxo.2	+	4	756	c.574G>T	c.(574-576)GAG>TAG	p.E192*	GAA_uc002jxp.2_Nonsense_Mutation_p.E192*|GAA_uc002jxq.2_Nonsense_Mutation_p.E192*	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	192					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CAGGCGCTACGAGGTGCCCTT	0.602		NaN											1	0	7.47603e-22	0.870114	8.22363e-22	49	193				
ZADH2	284273	broad.mit.edu	37	18	72913894	72913894	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr18:72913894C>A	uc002llx.2	-	2	879	c.611G>T	c.(610-612)TGC>TTC	p.C204F	ZADH2_uc010dqv.2_Missense_Mutation_p.C81F	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	204						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		ATCAGAAGAGCAGGTTCCAAT	0.468		NaN											1	0	1.47391e-114	0.870114	1.75275e-114	267	687				
PLIN5	440503	broad.mit.edu	37	19	4523684	4523684	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:4523684C>T	uc002mas.2	-	8	1301	c.1248G>A	c.(1246-1248)CAG>CAA	p.Q416Q		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	416						lipid particle					0						CCCAGGCTCTCTGCTGGGCCG	0.711		NaN									OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.870114	0	129	177				
LOC55908	55908	broad.mit.edu	37	19	11350372	11350372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11350372C>T	uc010dxx.2	+	2	220	c.218C>T	c.(217-219)TCA>TTA	p.S73L	DOCK6_uc010xlq.1_5'Flank|DOCK6_uc002mqs.3_Intron|LOC55908_uc010dxw.2_Intron	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN	hepatocellular carcinoma-associated gene TD26	20						extracellular region					0						CGGCCTGCCTCAGCGGCCCCC	0.642		NaN											0	0	0	0.796494	0	37	53				
LPHN1	22859	broad.mit.edu	37	19	14274115	14274115	+	Silent	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:14274115A>C	uc010xnn.1	-	6	809	c.513T>G	c.(511-513)GGT>GGG	p.G171G	LPHN1_uc010xno.1_Silent_p.G166G|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	171	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						AGATGCGGTCACCCGCCTGCA	0.652		NaN											0	0	0	0.840704	0	11	53				
MLL4	9757	broad.mit.edu	37	19	36223287	36223287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:36223287C>T	uc010eei.2	+	29	5837	c.5837C>T	c.(5836-5838)TCA>TTA	p.S1946L		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1946					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCTACCTCAGTCGTCACA	0.677		NaN											0	0	0	0.693898	0	24	29		Valid		
ZNF780B	163131	broad.mit.edu	37	19	40541026	40541026	+	Silent	SNP	G	G	A	rs143352640	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:40541026G>A	uc002omu.2	-	5	1805	c.1740C>T	c.(1738-1740)ACC>ACT	p.T580T	ZNF780B_uc002omv.2_Silent_p.T432T	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTTTCTTTCCGGTATGAATAC	0.388		NaN											0	0	0	0.796494	0	36	123				
ERF	2077	broad.mit.edu	37	19	42752674	42752674	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:42752674C>A	uc002ote.3	-	4	1748	c.1590G>T	c.(1588-1590)GTG>GTT	p.V530V	ERF_uc002otd.3_Silent_p.V261V	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	530					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				GGTCAGAGCTCACCCGCCTTG	0.711		NaN											1	0	2.68985e-26	0.870114	3.05428e-26	48	72				
ZNF234	10780	broad.mit.edu	37	19	44662014	44662014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:44662014G>C	uc002oym.2	+	6	2152	c.1845G>C	c.(1843-1845)CAG>CAC	p.Q615H	ZNF234_uc002oyl.3_Missense_Mutation_p.Q615H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	615	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				AACTTCATCAGAGTGTCCACA	0.473		NaN											0	0	0	0.870114	0	55	81				
PNMAL1	55228	broad.mit.edu	37	19	46973800	46973800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:46973800C>G	uc002peq.3	-	2	799	c.493G>C	c.(493-495)GAT>CAT	p.D165H	PNMAL1_uc002per.3_Missense_Mutation_p.D165H	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	165											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ATCTCGGCATCCATGCAGAAG	0.428		NaN											0	0	0	0.870114	0	121	175				
FAM71E1	112703	broad.mit.edu	37	19	50978631	50978631	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:50978631A>G	uc002psh.2	-	3	848	c.490T>C	c.(490-492)TTG>CTG	p.L164L	FAM71E1_uc002psg.2_Silent_p.L148L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	164										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCCAGAAGCAATAGGTCCGGG	0.647		NaN											0	0	0	0.457914	0	14	36				
MBOAT7	79143	broad.mit.edu	37	19	54677813	54677813	+	Silent	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:54677813A>C	uc002qdq.2	-	9	1610	c.1344T>G	c.(1342-1344)GGT>GGG	p.G448G	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.G132G|MBOAT7_uc010yem.1_Silent_p.G430G|MBOAT7_uc002qdr.2_Silent_p.G448G|MBOAT7_uc002qds.2_Silent_p.G375G|MBOAT7_uc010yen.1_Silent_p.G375G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	448	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTGCCCCCACCTAAAGCCA	0.662		NaN											0	0	0	0.479597	0	10	105				
SLC4A1AP	22950	broad.mit.edu	37	2	27898484	27898484	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:27898484G>A	uc002rlk.3	+	6	1713	c.1431G>A	c.(1429-1431)CTG>CTA	p.L477L		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	477						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					GGACTGGCCTGATTGAGAAGA	0.398		NaN											0	0	0	0.729181	0	30	61				
EFEMP1	2202	broad.mit.edu	37	2	56108800	56108800	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:56108800G>T	uc002rzh.2	-	5	917	c.587C>A	c.(586-588)TCC>TAC	p.S196Y	EFEMP1_uc002rzi.2_Missense_Mutation_p.S196Y|EFEMP1_uc002rzj.2_Missense_Mutation_p.S196Y|EFEMP1_uc010ypc.1_Missense_Mutation_p.S138Y	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	196	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCAAAGGATCCCCGTAA	0.507		NaN											1	0	7.76418e-22	0.693898	8.48756e-22	27	48				
ATOH8	84913	broad.mit.edu	37	2	85982034	85982034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:85982034C>G	uc002sqn.2	+	1	1126	c.722C>G	c.(721-723)ACG>AGG	p.T241R	ATOH8_uc002sqm.3_Missense_Mutation_p.T241R	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	241	Basic motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						AGGGAGCGGACGCGGGTGCAC	0.706		NaN											0	0	0	0.870114	0	70	101				
LYG2	254773	broad.mit.edu	37	2	99858848	99858848	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:99858848G>T	uc002szw.1	-	6	731	c.618C>A	c.(616-618)TTC>TTA	p.F206L	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	206					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						GTCTTTTATAGAACTTAGCTC	0.463		NaN											1	0	1.4709e-25	0.870114	1.64891e-25	58	100				
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:109103046C>T	uc002tec.2	+	16	4026	c.3872C>T	c.(3871-3873)ACG>ATG	p.T1291M	GCC2_uc002ted.2_Missense_Mutation_p.T1190M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1291	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CACCAGCGTACGCTAAGTGCA	0.502		NaN											0	0	0	0.812448	0	40	43				
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:178098953C>G	uc002ulh.3	-	2	647	c.92G>C	c.(91-93)GGA>GCA	p.G31A	NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31R(1)		central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCGACTTACTCCAAGATCTAT	0.363		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.608945	0	22	39		Valid		
TTN	7273	broad.mit.edu	37	2	179412782	179412782	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412782C>T	uc010zfg.1	-	288	86091	c.85867G>A	c.(85867-85869)GAT>AAT	p.D28623N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22318N|TTN_uc010zfi.1_Missense_Mutation_p.D22251N|TTN_uc010zfj.1_Missense_Mutation_p.D22126N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29550							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCAGCATCATTCTTGGCC	0.458		NaN											0	0	0	0.750413	0	34	68				
TTN	7273	broad.mit.edu	37	2	179412881	179412881	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412881C>G	uc010zfg.1	-	288	85992	c.85768G>C	c.(85768-85770)GAC>CAC	p.D28590H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22285H|TTN_uc010zfi.1_Missense_Mutation_p.D22218H|TTN_uc010zfj.1_Missense_Mutation_p.D22093H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCAGAAGTCAGATCCCTTT	0.468		NaN											0	0	0	0.870114	0	88	163				
TTN	7273	broad.mit.edu	37	2	179412928	179412928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179412928C>T	uc010zfg.1	-	288	85945	c.85721G>A	c.(85720-85722)GGC>GAC	p.G28574D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22269D|TTN_uc010zfi.1_Missense_Mutation_p.G22202D|TTN_uc010zfj.1_Missense_Mutation_p.G22077D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29501							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCCGGCTGCCTCCATCGTG	0.498		NaN											0	0	0	0.870114	0	74	130				
TTN	7273	broad.mit.edu	37	2	179413248	179413248	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413248C>T	uc010zfg.1	-	288	85625	c.85401G>A	c.(85399-85401)TTG>TTA	p.L28467L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L22162L|TTN_uc010zfi.1_Silent_p.L22095L|TTN_uc010zfj.1_Silent_p.L21970L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCCACATCAATGTAGCAG	0.507		NaN											0	0	0	0.870114	0	99	175				
TTN	7273	broad.mit.edu	37	2	179413427	179413427	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:179413427C>T	uc010zfg.1	-	288	85446	c.85222G>A	c.(85222-85224)GAT>AAT	p.D28408N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22103N|TTN_uc010zfi.1_Missense_Mutation_p.D22036N|TTN_uc010zfj.1_Missense_Mutation_p.D21911N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29335							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAGGAATCTGTTGTATGG	0.448		NaN											0	0	0	0.812448	0	38	72				
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:198267484G>A	uc002uue.2	-	14	1921	c.1873C>T	c.(1873-1875)CGT>TGT	p.R625C		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	625	HEAT 3.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433		NaN											0	0	0	0.740014	0	30	49				
NIF3L1	60491	broad.mit.edu	37	2	201756682	201756682	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:201756682G>A	uc002uwm.2	+	2	107	c.16G>A	c.(16-18)GTA>ATA	p.V6I	PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Intron|NIF3L1_uc002uwn.2_Intron|NIF3L1_uc002uwo.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwp.2_Missense_Mutation_p.V6I|NIF3L1_uc002uwq.2_Missense_Mutation_p.V6I	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	6					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GTCATCTTGCGTACGCCCAGT	0.438		NaN											0	0	0	0.457914	0	15	24				
USP37	57695	broad.mit.edu	37	2	219360635	219360635	+	Silent	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219360635C>A	uc002vie.2	-	14	1773	c.1320G>T	c.(1318-1320)CTG>CTT	p.L440L	USP37_uc010fvs.1_Silent_p.L440L|USP37_uc010zkf.1_Silent_p.L440L|USP37_uc002vif.2_Silent_p.L440L|USP37_uc002vig.2_Silent_p.L368L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	440					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATCTTCTTTCAGCTGGTCCA	0.338		NaN											1	0	4.62619e-21	0.796494	5.02598e-21	36	63				
ZNF142	7701	broad.mit.edu	37	2	219503085	219503085	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503085G>C	uc002vin.2	-	10	5477	c.5041C>G	c.(5041-5043)CCC>GCC	p.P1681A	ZNF142_uc002vil.2_Missense_Mutation_p.P1642A|ZNF142_uc010fvt.2_Missense_Mutation_p.P1518A|ZNF142_uc002vim.2_Missense_Mutation_p.P1518A	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCAGTGTGGGGAGCGGCAGGA	0.627		NaN											0	0	0	0.557998	0	14	26				
ZNF142	7701	broad.mit.edu	37	2	219503172	219503172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:219503172G>A	uc002vin.2	-	10	5390	c.4954C>T	c.(4954-4956)CAG>TAG	p.Q1652*	ZNF142_uc002vil.2_Nonsense_Mutation_p.Q1613*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.Q1489*|ZNF142_uc002vim.2_Nonsense_Mutation_p.Q1489*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCACACCCTGGTTTGGGTCG	0.622		NaN											0	0	0	0.788014	0	30	66				
INHA	3623	broad.mit.edu	37	2	220439578	220439578	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:220439578C>A	uc002vmk.1	+	2	575	c.431C>A	c.(430-432)GCC>GAC	p.A144D		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	144					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCACAGCAGCCTCCAATAGC	0.642		NaN											1	0	7.34454e-26	0.870114	8.28615e-26	52	61				
DOCK10	55619	broad.mit.edu	37	2	225653783	225653783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:225653783C>G	uc010fwz.1	-	48	5655	c.5416G>C	c.(5416-5418)GAG>CAG	p.E1806Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1800Q|DOCK10_uc002voa.2_Missense_Mutation_p.E462Q|DOCK10_uc002voc.2_Missense_Mutation_p.E627Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1806	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTCTAACCTCATTGTATGGT	0.393		NaN											0	0	0	0.217242	0	6	21				
SP140	11262	broad.mit.edu	37	2	231113635	231113635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231113635G>A	uc002vql.2	+	9	1043	c.928G>A	c.(928-930)GAA>AAA	p.E310K	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.E310K|SP140_uc002vqn.2_Missense_Mutation_p.E257K|SP140_uc002vqm.2_Missense_Mutation_p.E284K|SP140_uc010fxl.2_Missense_Mutation_p.E310K	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	310					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCACTAATGAAGGAGAACC	0.398		NaN											0	0	0	0.740014	0	30	66				
PSMD1	5707	broad.mit.edu	37	2	231947666	231947666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr2:231947666G>A	uc002vrn.1	+	13	1614	c.1483G>A	c.(1483-1485)GAT>AAT	p.D495N	PSMD1_uc002vrm.1_Missense_Mutation_p.D495N|PSMD1_uc010fxu.1_Missense_Mutation_p.D359N	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	495	PC 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGATGTTTATGATTTGCTAAA	0.363		NaN											0	0	0	0.681144	0	25	40				
BAGE2	85319	broad.mit.edu	37	21	11058303	11058303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:11058303G>A	uc002yit.1	-	3	345	c.137C>T	c.(136-138)ACT>ATT	p.T46I	BAGE_uc002yiw.1_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGCTCCAAAGTGCTTACAAA	0.388		NaN											0	0	0	0.435327	0	10	268				
RNF160	26046	broad.mit.edu	37	21	30365173	30365173	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:30365173C>A	uc002ymr.2	-	1	105	c.92G>T	c.(91-93)CGT>CTT	p.R31L		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	Error:Variant_position_missing_in_O94822_after_alignment							ligase activity|zinc ion binding				0						CCGGTTGACACGTCCGGGACA	0.622		NaN											1	0	0.000229342	0.608945	0.000234675	22	44				
TMEM50B	757	broad.mit.edu	37	21	34823156	34823156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr21:34823156T>C	uc002yrt.1	-	7	624	c.446A>G	c.(445-447)AAA>AGA	p.K149R	TMEM50B_uc002yrs.1_RNA|TMEM50B_uc010gmb.1_RNA	NM_006134	NP_006125	P56557	TM50B_HUMAN	transmembrane protein 50B	149						endoplasmic reticulum|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TCTTCCAAATTTGTAGATCAG	0.348		NaN											0	0	0	0.840704	0	38	45				
CECR6	27439	broad.mit.edu	37	22	17600373	17600373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:17600373G>A	uc002zmb.2	-	1	1841	c.1645C>T	c.(1645-1647)CAG>TAG	p.Q549*	CECR6_uc002zma.2_Nonsense_Mutation_p.Q194*|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	549											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GAGCCTCCCTGAGGTGGTGGC	0.687		NaN											0	0	0	0.335167	0	8	20				
GNAZ	2781	broad.mit.edu	37	22	23438310	23438310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:23438310G>A	uc002zwu.1	+	2	965	c.428G>A	c.(427-429)CGC>CAC	p.R143H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	143						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGCTTCAGCCGCTCCAGCGAG	0.657		NaN											0	0	0	0.361761	0	7	140				
MTP18	51537	broad.mit.edu	37	22	30822725	30822725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:30822725G>A	uc003ahw.1	+	2	236	c.88G>A	c.(88-90)GAG>AAG	p.E30K	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E192K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E30K	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	30					apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						TGAGGTGGGCGAGGCTTTCCG	0.502		NaN									OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.870114	0	37	73				
HMGXB4	10042	broad.mit.edu	37	22	35684398	35684398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:35684398G>A	uc003anl.2	+	9	1810	c.1636G>A	c.(1636-1638)GAG>AAG	p.E546K	HMGXB4_uc003ank.2_Missense_Mutation_p.E437K	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	546					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						GCAGGAAACTGAGGTGAATAC	0.348		NaN											0	0	0	0.681144	0	25	53				
C22orf9	23313	broad.mit.edu	37	22	45601515	45601515	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr22:45601515G>T	uc003bfx.1	-	4	476	c.410C>A	c.(409-411)TCT>TAT	p.S137Y	C22orf9_uc010gzw.1_5'UTR|C22orf9_uc003bfv.1_Missense_Mutation_p.S146Y|C22orf9_uc003bfw.1_Missense_Mutation_p.S142Y|C22orf9_uc010gzx.2_Missense_Mutation_p.S119Y	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	137							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		GCTCACCTGAGATTTCTTCTT	0.597		NaN											1	0	7.63091e-17	0.834066	8.09061e-17	41	81				
IL5RA	3568	broad.mit.edu	37	3	3144421	3144421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:3144421G>C	uc011ask.1	-	5	810	c.166C>G	c.(166-168)CAA>GAA	p.Q56E	IL5RA_uc010hbq.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbr.2_Missense_Mutation_p.Q56E|IL5RA_uc010hbs.2_Missense_Mutation_p.Q56E|IL5RA_uc011asl.1_Missense_Mutation_p.Q56E|IL5RA_uc011asm.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbt.2_Missense_Mutation_p.Q56E|IL5RA_uc011asn.1_Missense_Mutation_p.Q56E|IL5RA_uc010hbu.2_Missense_Mutation_p.Q56E	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	56	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTGCTCTTGATCAGGATTT	0.333		NaN											0	0	0	0.575678	0	20	27				
SCN10A	6336	broad.mit.edu	37	3	38739749	38739749	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:38739749G>A	uc003ciq.2	-	27	4962	c.4962C>T	c.(4960-4962)CTC>CTT	p.L1654L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1654	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAATCTGGAAGAGGCACAGCA	0.582		NaN											0	0	0	0.870114	0	48	88				
PROS1	5627	broad.mit.edu	37	3	93646147	93646147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:93646147C>T	uc003drb.3	-	2	522	c.181G>A	c.(181-183)GAA>AAA	p.E61K	PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	61	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGCACAGTTCTTCGATGCAT	0.413		NaN											0	0	0	0.740014	0	31	75				
IFT122	55764	broad.mit.edu	37	3	129195584	129195584	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:129195584T>A	uc003emm.2	+	11	1293	c.1087T>A	c.(1087-1089)TAT>AAT	p.Y363N	IFT122_uc003eml.2_Missense_Mutation_p.Y414N|IFT122_uc003emn.2_Missense_Mutation_p.Y304N|IFT122_uc003emo.2_Missense_Mutation_p.Y252N|IFT122_uc003emp.2_Missense_Mutation_p.Y213N|IFT122_uc010htc.2_Missense_Mutation_p.Y355N|IFT122_uc011bky.1_Missense_Mutation_p.Y154N|IFT122_uc003emq.2_Missense_Mutation_p.Y203N|IFT122_uc003emr.2_Missense_Mutation_p.Y154N|IFT122_uc011bla.1_Missense_Mutation_p.Y154N|IFT122_uc011bkx.1_Missense_Mutation_p.Y203N|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	363					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CAAGGACCGCTATGCCTACAG	0.547		NaN											0	0	0	0.870114	0	54	89				
ABCC5	10057	broad.mit.edu	37	3	183689484	183689484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:183689484G>A	uc003fmg.2	-	11	1793	c.1628C>T	c.(1627-1629)GCA>GTA	p.A543V	ABCC5_uc011bqt.1_Missense_Mutation_p.A71V|ABCC5_uc010hxl.2_Missense_Mutation_p.A543V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	543						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTCTGCTCTGCCAGCACCGC	0.597		NaN											0	0	0	0.870114	0	49	100				
C3orf59	151963	broad.mit.edu	37	3	192516318	192516318	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr3:192516318C>G	uc011bsp.1	-	2	1654	c.1333G>C	c.(1333-1335)GGG>CGG	p.G445R		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	445											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		TTGGGGTCCCCTCCGTCAGAC	0.567		NaN											0	0	0	0.870114	0	69	217				
PPARGC1A	10891	broad.mit.edu	37	4	23814419	23814419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23814419C>T	uc003gqs.2	-	10	2090	c.1970G>A	c.(1969-1971)CGA>CAA	p.R657Q	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	657					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CTCAGACTCTCGCTTCTCATA	0.453		NaN											0	0	0	0.870114	0	68	97				
PPARGC1A	10891	broad.mit.edu	37	4	23815883	23815883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:23815883C>G	uc003gqs.2	-	8	1343	c.1223G>C	c.(1222-1224)AGA>ACA	p.R408T	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	408					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TTCTAGTTGTCTAGAGTCTTG	0.448		NaN											0	0	0	0.608945	0	22	40				
SDAD1	55153	broad.mit.edu	37	4	76882456	76882456	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:76882456T>C	uc003hje.3	-	15	1306	c.1187A>G	c.(1186-1188)AAT>AGT	p.N396S	SDAD1_uc003hjf.3_Missense_Mutation_p.N299S|SDAD1_uc011cbr.1_Missense_Mutation_p.N359S	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368).	protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTATAGCATTGATTCTAGA	0.368		NaN											0	0	0	0.864702	0	44	59				
GAB1	2549	broad.mit.edu	37	4	144359278	144359278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:144359278G>A	uc003ije.2	+	4	1079	c.720G>A	c.(718-720)ATG>ATA	p.M240I	GAB1_uc003ijd.2_Missense_Mutation_p.M240I|GAB1_uc011chq.1_Missense_Mutation_p.M137I	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	240					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					AGCAGCAAATGATATACGACT	0.448		NaN											0	0	0	0.654019	0	23	42				
FGG	2266	broad.mit.edu	37	4	155530854	155530854	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:155530854C>T	uc003ioj.2	-	6	735	c.594G>A	c.(592-594)CTG>CTA	p.L198L	FGG_uc003iog.2_Silent_p.L198L|FGG_uc003ioh.2_Silent_p.L206L|FGG_uc010ipx.2_Silent_p.L26L|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Silent_p.L206L	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	198	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTTAGCTTTCAGAGGTTTAA	0.393		NaN											0	0	0	0.796494	0	36	76				
KIAA1430	57587	broad.mit.edu	37	4	186111887	186111887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr4:186111887G>C	uc003ixf.3	-	2	611	c.464C>G	c.(463-465)TCT>TGT	p.S155C	KIAA1430_uc003ixg.2_Missense_Mutation_p.S155C	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	155											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AACGTTAGTAGATGGTTTAGC	0.299		NaN											0	0	0	0.27861	0	7	15				
POLK	51426	broad.mit.edu	37	5	74865308	74865308	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:74865308G>C	uc003kdw.2	+	4	495	c.399G>C	c.(397-399)ATG>ATC	p.M133I	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Missense_Mutation_p.M133I|POLK_uc003kea.2_Missense_Mutation_p.M133I|POLK_uc003keb.2_Missense_Mutation_p.M133I|POLK_uc010izq.2_Missense_Mutation_p.M133I|POLK_uc003kec.2_Missense_Mutation_p.M43I|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.M43I|POLK_uc003kee.2_Missense_Mutation_p.M133I|POLK_uc003kef.2_Missense_Mutation_p.M43I	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	133	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TAGGATCAATGAGTATGCTGG	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.592651	0	20	33				
PSD2	84249	broad.mit.edu	37	5	139215325	139215325	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:139215325C>G	uc003leu.1	+	9	1582	c.1377C>G	c.(1375-1377)ATC>ATG	p.I459M		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	459	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACTCCATCAAGAATGAAA	0.527		NaN											0	0	0	0.870114	0	287	476				
PCDHB3	56132	broad.mit.edu	37	5	140482583	140482583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:140482583G>A	uc003lio.2	+	1	2350	c.2350G>A	c.(2350-2352)GAG>AAG	p.E784K	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	784	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.458		NaN											0	0	0	0.870114	0	105	187				
PCDHGA8	9708	broad.mit.edu	37	5	140774176	140774176	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:140774176G>T	uc003lkd.1	+	1	2694	c.1796G>T	c.(1795-1797)GGC>GTC	p.G599V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G599V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGACTCGGGCCAGAACGCC	0.706		NaN											1	0	3.27435e-08	0.457914	3.37009e-08	14	153				
NSD1	64324	broad.mit.edu	37	5	176709524	176709524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr5:176709524G>T	uc003mfr.3	+	19	6089	c.5951G>T	c.(5950-5952)CGA>CTA	p.R1984L	NSD1_uc003mft.3_Missense_Mutation_p.R1715L|NSD1_uc011dfx.1_Missense_Mutation_p.R1632L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET.		R -> Q (in SOTOSS; loss of enzyme activity).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCAGAGCTCGAATTCGCTAT	0.373		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			1	0	4.09166e-32	0.870114	4.67618e-32	76	111		Valid		
BRD2	6046	broad.mit.edu	37	6	32944408	32944408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:32944408C>T	uc003ocn.3	+	7	2596	c.895C>T	c.(895-897)CCA>TCA	p.P299S	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.P299S|BRD2_uc003ocp.3_Missense_Mutation_p.P179S|BRD2_uc010juh.2_Missense_Mutation_p.P299S	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	299					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCCTGGTTCTCCAGCTAGCCC	0.552		NaN											0	0	0	0.870114	0	82	141				
MAPK14	1432	broad.mit.edu	37	6	36067964	36067964	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:36067964G>A	uc003olp.2	+	9	1164	c.683_splice	c.e9-1	p.H228_splice	MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1						activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						AGGCATCTAAGATATTAACCA	0.403		NaN											0	0	0	0.870114	0	63	108				
MRPL14	64928	broad.mit.edu	37	6	44081613	44081613	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:44081613G>A	uc003owp.2	-	3	534	c.405C>T	c.(403-405)TCC>TCT	p.S135S		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14 precursor	135					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CCAGCACCTTGGAATACTCGC	0.552		NaN											0	0	0	0.859065	0	46	63				
MDN1	23195	broad.mit.edu	37	6	90428326	90428326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:90428326C>T	uc003pnn.1	-	43	6458	c.6342G>A	c.(6340-6342)TGG>TGA	p.W2114*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2114					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGCCTCCTCCAAGGTCGTA	0.473		NaN											0	0	0	0.706142	0	26	53				
TNFAIP3	7128	broad.mit.edu	37	6	138192400	138192400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:138192400G>C	uc003qhr.2	+	2	102	c.36G>C	c.(34-36)TTG>TTC	p.L12F	TNFAIP3_uc003qhs.2_Missense_Mutation_p.L12F	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	12					anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGTATTTGAGCAATATGC	0.388		NaN	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.870114	0	88	136				
MAGI2	9863	broad.mit.edu	37	7	77797280	77797280	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:77797280C>T	uc003ugx.2	-	15	2803	c.2549G>A	c.(2548-2550)CGC>CAC	p.R850H	MAGI2_uc003ugy.2_Missense_Mutation_p.R836H|MAGI2_uc010ldx.1_Missense_Mutation_p.R443H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	850	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGCCCATTGCGGGCTGCGTG	0.547		NaN											0	0	0	0.870114	0	82	145				
CNPY4	245812	broad.mit.edu	37	7	99722457	99722457	+	Silent	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:99722457A>G	uc003uto.2	+	6	796	c.693A>G	c.(691-693)GGA>GGG	p.G231G	MBLAC1_uc003utp.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	canopy 4 homolog precursor	231						extracellular region					0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					aggaaggggGAGACAAGATGA	0.388		NaN											0	0	0	0.870114	0	181	260				
LMOD2	442721	broad.mit.edu	37	7	123302716	123302716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:123302716G>A	uc003vky.2	+	2	1233	c.1076G>A	c.(1075-1077)CGT>CAT	p.R359H		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	359						cytoskeleton	actin binding|tropomyosin binding				0						AGGCAAAAACGTTTGCAGGAG	0.463		NaN											0	0	0	0.870114	0	58	77				
UBE3C	9690	broad.mit.edu	37	7	157060438	157060438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:157060438G>C	uc010lqs.2	+	23	3553	c.3241G>C	c.(3241-3243)GAG>CAG	p.E1081Q	UBE3C_uc003wni.3_Missense_Mutation_p.E444Q	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1081	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGCTGGCTTTGAGCTGAGCTG	0.547		NaN											0	0	0	0.870114	0	104	130				
ZFHX4	79776	broad.mit.edu	37	8	77767336	77767336	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:77767336T>C	uc003yav.2	+	10	8431	c.8044T>C	c.(8044-8046)TAC>CAC	p.Y2682H	ZFHX4_uc003yau.1_Missense_Mutation_p.Y2727H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y2682H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2682						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCACAGAAATACATCTATTT	0.428		NaN								HNSCC(33;0.089)			0	0	0	0.411799	0	13	40				
UBR5	51366	broad.mit.edu	37	8	103277452	103277452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103277452C>G	uc003ykr.1	-	53	7510	c.7477G>C	c.(7477-7479)GAT>CAT	p.D2493H	UBR5_uc003yks.1_Missense_Mutation_p.D2492H|UBR5_uc003ykq.2_Missense_Mutation_p.D4H	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2493	Asp/Glu-rich (acidic).|HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.D2493V(1)		lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGTATCATCTAAATCCATA	0.423		NaN											0	0	0	0.870114	0	78	38				
ODF1	4956	broad.mit.edu	37	8	103564035	103564035	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103564035G>T	uc003ykt.2	+	1	188	c.80G>T	c.(79-81)TGC>TTC	p.C27F		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	27					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CAACTGAGATGCATCGACGAA	0.483		NaN											1	0	3.12118e-38	0.870114	3.614e-38	79	285				
AZIN1	51582	broad.mit.edu	37	8	103851004	103851004	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:103851004C>T	uc003ykx.2	-	6	1159	c.417G>A	c.(415-417)TTG>TTA	p.L139L	AZIN1_uc003yky.2_Silent_p.L139L	NM_015878	NP_056962	O14977	AZIN1_HUMAN	ornithine decarboxylase antizyme inhibitor	139					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding				0	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CAATTTTCTTCAATTCAATTT	0.328		NaN											0	0	0	0.624587	0	22	79				
CSMD3	114788	broad.mit.edu	37	8	113694715	113694715	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:113694715A>C	uc003ynu.2	-	16	2792	c.2633T>G	c.(2632-2634)ATG>AGG	p.M878R	CSMD3_uc003yns.2_Missense_Mutation_p.M150R|CSMD3_uc003ynt.2_Missense_Mutation_p.M838R|CSMD3_uc011lhx.1_Missense_Mutation_p.M774R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	878	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTTTCCATCCATAAGAATACA	0.358		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.870114	0	53	114				
TAF2	6873	broad.mit.edu	37	8	120807793	120807793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:120807793C>A	uc003you.2	-	9	1440	c.1170G>T	c.(1168-1170)GAG>GAT	p.E390D		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	390					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCGGTACTCATTAACAC	0.343		NaN											1	0	8.60227e-14	0.500413	8.95858e-14	17	74				
BAI1	575	broad.mit.edu	37	8	143565371	143565371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:143565371G>C	uc003ywm.2	+	11	2347	c.2164G>C	c.(2164-2166)GAG>CAG	p.E722Q		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	722	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGTTGGCAGAGGAGAATCG	0.587		NaN											0	0	0	0.870114	0	93	461				
ZNF250	58500	broad.mit.edu	37	8	146108082	146108082	+	Silent	SNP	C	C	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:146108082C>G	uc003zeq.3	-	6	618	c.501G>C	c.(499-501)CTG>CTC	p.L167L	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.L162L|ZNF250_uc010mgg.2_Silent_p.L162L	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGTTTGGACTCAGACAGAAGC	0.478		NaN											0	0	0	0.870114	0	110	371				
TPM2	7169	broad.mit.edu	37	9	35685657	35685657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:35685657C>T	uc003zxq.2	-	3	600	c.361G>A	c.(361-363)GAT>AAT	p.D121N	TPM2_uc003zxr.2_Missense_Mutation_p.D121N|TPM2_uc003zxs.2_Missense_Mutation_p.D121N|TPM2_uc010mkz.2_Missense_Mutation_p.D121N|TPM2_uc011lpa.1_Missense_Mutation_p.D121N	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	121	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGCTCTCATCAGCCGCCTTC	0.672		NaN											0	0	0	0.870114	0	84	112				
ALG2	85365	broad.mit.edu	37	9	101984145	101984145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:101984145G>A	uc004azf.2	-	1	102	c.32C>T	c.(31-33)TCG>TTG	p.S11L	ALG2_uc004azg.2_5'UTR|SEC61B_uc004azh.2_5'Flank	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	11					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				CTTGGGAACCGAGTCCCGTTC	0.726		NaN											0	0	0	0.557998	0	18	27				
SNX30	401548	broad.mit.edu	37	9	115600917	115600917	+	Silent	SNP	C	C	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:115600917C>T	uc004bgj.3	+	6	1102	c.954C>T	c.(952-954)GAC>GAT	p.D318D	SNX30_uc004bgi.3_5'UTR	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	318					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TGACAGATGACATGACAGAAG	0.483		NaN											0	0	0	0.827153	0	38	98				
AR	367	broad.mit.edu	37	X	66765006	66765006	+	Silent	SNP	G	G	A			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:66765006G>A	uc004dwu.1	+	1	1133	c.18G>A	c.(16-18)GGG>GGA	p.G6G	AR_uc011mpd.1_Silent_p.G6G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G6G	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	6	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCAGTTAGGGCTGGGAAGGG	0.577		NaN							Androgen_Insensitivity_Syndrome				0	0	0	0.827153	0	37	8				
KIAA1210	57481	broad.mit.edu	37	X	118220587	118220587	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chrX:118220587A>G	uc004era.3	-	11	4606	c.4606T>C	c.(4606-4608)TCT>CCT	p.S1536P		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1536										ovary(4)|skin(1)	5						GCAACGTAAGATATTTTGGTG	0.512		NaN											0	0	0	0.870114	0	53	15				
PRAMEF2	65122	broad.mit.edu	37	1	12921316	12921316	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:12921316C>G	uc001aum.1	+	4	1194	c.1107C>G	c.(1105-1107)ATC>ATG	p.I369M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	369	LRR 2.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGTGCCATCCTGCCTGGCC	0.562		NaN											0	0	0	0.00308	0	7	187				
KIAA0754	643314	broad.mit.edu	37	1	39878410	39878410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:39878410G>C	uc009vvt.1	+	1	3235	c.2473G>C	c.(2473-2475)GAG>CAG	p.E825Q	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	689											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCAGTTTTAGAGGAATGGAT	0.493		NaN											0	0	0	0.009096	0	3	24				
CTPS	1503	broad.mit.edu	37	1	41471729	41471729	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:41471729A>G	uc001cgk.3	+	13	1767	c.1259A>G	c.(1258-1260)AAT>AGT	p.N420S	CTPS_uc010ojo.1_Missense_Mutation_p.N189S|CTPS_uc001cgl.3_Missense_Mutation_p.N420S|CTPS_uc010ojq.1_Missense_Mutation_p.N264S|CTPS_uc009vwe.2_Missense_Mutation_p.N140S	NM_001905	NP_001896	P17812	PYRG1_HUMAN	CTP synthase	420	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)	TCAGATGCCAATTCTACAGAG	0.408		NaN											0	0	0	0.004672	0	3	119				
C8B	732	broad.mit.edu	37	1	57409489	57409489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:57409489G>C	uc001cyp.2	-	8	1181	c.1114C>G	c.(1114-1116)CTT>GTT	p.L372V	C8B_uc010oon.1_Missense_Mutation_p.L310V|C8B_uc010ooo.1_Missense_Mutation_p.L320V	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	372	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ACGTTGTTAAGAGTATAATCT	0.443		NaN											0	0	0	0.021553	0	6	112				
LRRC7	57554	broad.mit.edu	37	1	70504020	70504020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:70504020G>A	uc001dep.2	+	19	2429	c.2399G>A	c.(2398-2400)AGA>AAA	p.R800K	LRRC7_uc009wbg.2_Missense_Mutation_p.R84K|LRRC7_uc001deq.2_Missense_Mutation_p.R41K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	800						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TCGAAATCTAGAAGCACATCT	0.488		NaN											0	0	0	0.010729	0	11	181				
PSMD4	5710	broad.mit.edu	37	1	151238867	151238867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:151238867G>C	uc001exl.2	+	8	909	c.847G>C	c.(847-849)GAG>CAG	p.E283Q	PSMD4_uc001exn.2_Missense_Mutation_p.E286Q	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	283	UIM 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTATGACTGAGGAAGAGCA	0.552		NaN											0	0	0	0.013537	0	12	99				
FLG	2312	broad.mit.edu	37	1	152275618	152275618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:152275618G>C	uc001ezu.1	-	3	11780	c.11744C>G	c.(11743-11745)TCT>TGT	p.S3915C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACAGGTGAAGACTGTACATG	0.498		NaN							Ichthyosis				0	0	0	0.001984	0	5	101				
IQGAP3	128239	broad.mit.edu	37	1	156507074	156507074	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:156507074G>A	uc001fpf.2	-	27	3396	c.3321C>T	c.(3319-3321)AGC>AGT	p.S1107S		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1107	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCGGGGTGGCTCAAGGCCT	0.562		NaN											0	0	0	0.004672	0	3	36				
PBX1	5087	broad.mit.edu	37	1	164761814	164761814	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:164761814G>A	uc001gct.2	+	3	607	c.349G>A	c.(349-351)GTG>ATG	p.V117M	PBX1_uc010pku.1_Missense_Mutation_p.V117M|PBX1_uc010pkv.1_Missense_Mutation_p.V34M|PBX1_uc001gcs.2_Missense_Mutation_p.V117M|PBX1_uc010pkw.1_Missense_Mutation_p.V7M	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	117					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						AGCGGAAGGCGTGGCGGGGCC	0.493		NaN	T	TCF3|EWSR1	pre B-ALL|myoepithelioma								0	0	0	0.004672	0	3	18				
PM20D1	148811	broad.mit.edu	37	1	205819093	205819093	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:205819093C>T	uc001hdj.2	-	1	153	c.108G>A	c.(106-108)GCG>GCA	p.A36A	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	36						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGATTCGCGACGCCCTTTGAT	0.592		NaN											0	0	0	0.014758	0	5	58				
LAMB3	3914	broad.mit.edu	37	1	209789846	209789846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:209789846C>T	uc001hhg.2	-	21	3742	c.3352G>A	c.(3352-3354)GAG>AAG	p.E1118K	LAMB3_uc009xco.2_Missense_Mutation_p.E1118K|LAMB3_uc001hhh.2_Missense_Mutation_p.E1118K	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1118	Domain I.|Potential.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCATGGTCTCCCCAAACAGC	0.552		NaN											0	0	0	0.013537	0	9	183				
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr1:215256745C>T	uc001hkq.2	+	1	186	c.17C>T	c.(16-18)TCG>TTG	p.S6L	KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	6	Cytoplasmic (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCCAGCGCCTCGCGGGAGAGA	0.547		NaN											0	0	0	0.008291	0	9	79				
ATAD1	84896	broad.mit.edu	37	10	89516664	89516664	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr10:89516664C>G	uc001key.1	-	8	1130	c.847G>C	c.(847-849)GAC>CAC	p.D283H	ATAD1_uc010qmr.1_Missense_Mutation_p.D195H|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.D283H	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	283						peroxisome	ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		TCTAGCAGGTCTACATGCCTA	0.353		NaN											0	0	0	0.021553	0	6	99				
MYOF	26509	broad.mit.edu	37	10	95147619	95147619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr10:95147619G>A	uc001kin.2	-	19	1756	c.1633C>T	c.(1633-1635)CTT>TTT	p.L545F	MYOF_uc001kio.2_Missense_Mutation_p.L532F	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	545	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GTCTTCTCAAGAAAAGTGGCT	0.423		NaN											0	0	0	0.00308	0	6	166				
ARHGAP19	84986	broad.mit.edu	37	10	99025847	99025847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr10:99025847G>C	uc001knb.2	-	2	121	c.92C>G	c.(91-93)TCT>TGT	p.S31C	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S22C|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S31C|ARHGAP19_uc009xvk.2_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	31					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TCGAAGGGAAGAATCATTGCA	0.393		NaN											0	0	0	0.014758	0	5	84				
CHUK	1147	broad.mit.edu	37	10	101978578	101978578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr10:101978578C>T	uc001kqp.2	-	8	749	c.694G>A	c.(694-696)GAG>AAG	p.E232K		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	232	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TTAATCTTCTCATGCCTATAA	0.328		NaN											0	0	0	0.00308	0	8	93				
OR52I2	143502	broad.mit.edu	37	11	4608745	4608745	+	Missense_Mutation	SNP	C	C	T	rs137965376	byFrequency	TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:4608745C>T	uc010qyh.1	+	1	703	c.703C>T	c.(703-705)CTT>TTT	p.L235F		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	235	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTTCCTCTCTTATGGTGGG	0.488		NaN											0	0	0	0.010504	0	19	257				
DEPDC7	91614	broad.mit.edu	37	11	33053051	33053051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:33053051G>C	uc001mub.2	+	5	1002	c.910G>C	c.(910-912)GAT>CAT	p.D304H	DEPDC7_uc001muc.2_Missense_Mutation_p.D295H	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	304					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						ACTTCTGTTTGATGCCATTGG	0.398		NaN											0	0	0	0.024245	0	10	124				
DEPDC7	91614	broad.mit.edu	37	11	33053080	33053080	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:33053080G>A	uc001mub.2	+	5	1031	c.939G>A	c.(937-939)AGG>AGA	p.R313R	DEPDC7_uc001muc.2_Silent_p.R304R	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	313					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						ACAGTAGTAGGGAACCTCTGT	0.393		NaN											0	0	0	0.008291	0	7	129				
DEPDC7	91614	broad.mit.edu	37	11	33054239	33054239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:33054239G>C	uc001mub.2	+	7	1255	c.1163G>C	c.(1162-1164)AGG>ACG	p.R388T	DEPDC7_uc001muc.2_Missense_Mutation_p.R379T	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	388					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						GTTGTGAAAAGGATATTCTCA	0.259		NaN											0	0	0	0.024245	0	16	106				
DEPDC7	91614	broad.mit.edu	37	11	33054490	33054490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:33054490G>A	uc001mub.2	+	8	1411	c.1319G>A	c.(1318-1320)GGA>GAA	p.G440E	DEPDC7_uc001muc.2_Missense_Mutation_p.G431E	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	440					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						ATACAGAACGGAAGAGATCCA	0.318		NaN											0	0	0	0.008871	0	17	119				
DEPDC7	91614	broad.mit.edu	37	11	33054924	33054924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:33054924G>A	uc001mub.2	+	9	1551	c.1459G>A	c.(1459-1461)GCC>ACC	p.A487T	DEPDC7_uc001muc.2_Missense_Mutation_p.A478T	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	487					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						AAAACTTTCTGCCAAAGAGAA	0.333		NaN											0	0	0	0.001984	0	6	140				
NAT10	55226	broad.mit.edu	37	11	34139781	34139781	+	Silent	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:34139781C>G	uc001mvk.2	+	7	856	c.612C>G	c.(610-612)CTC>CTG	p.L204L	NAT10_uc010ren.1_Silent_p.L132L	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	204						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATGACCAGCTCAACATCCTGC	0.557		NaN											0	0	0	0.016723	0	10	60				
PGM2L1	283209	broad.mit.edu	37	11	74056622	74056622	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:74056622C>T	uc001ovb.1	-	9	1406	c.1110G>A	c.(1108-1110)AAG>AAA	p.K370K		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	370					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					ATTTATTTTTCTTCCAGCAAT	0.373		NaN											0	0	0	0.021553	0	5	108				
MAP6	4135	broad.mit.edu	37	11	75298367	75298367	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:75298367G>C	uc001owu.2	-	4	2244	c.2179C>G	c.(2179-2181)CAA>GAA	p.Q727E		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	727	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GTGGGGCCTTGATCCTTAACT	0.493		NaN											0	0	0	0.01892	0	25	221				
TSKU	25987	broad.mit.edu	37	11	76507357	76507357	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:76507357C>T	uc001oxt.2	+	2	869	c.697C>T	c.(697-699)CAC>TAC	p.H233Y		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	233	LRR 8.					extracellular region					0	Ovarian(111;0.112)					AGGCCTTACACACCTGTCTCT	0.667		NaN											0	0	0	0.004482	0	8	112				
NPAT	4863	broad.mit.edu	37	11	108043955	108043955	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:108043955C>T	uc001pjz.3	-	13	1858	c.1756G>A	c.(1756-1758)GAA>AAA	p.E586K	NPAT_uc001pka.2_Missense_Mutation_p.E381K	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	586					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATAACTGGTTCTAACACATTA	0.299		NaN											0	0	0	0.020292	0	14	231				
EXPH5	23086	broad.mit.edu	37	11	108382830	108382830	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr11:108382830C>A	uc001pkk.2	-	6	3515	c.3404G>T	c.(3403-3405)GGA>GTA	p.G1135V	EXPH5_uc010rvy.1_Missense_Mutation_p.G947V|EXPH5_uc010rvz.1_Missense_Mutation_p.G979V|EXPH5_uc010rwa.1_Missense_Mutation_p.G1059V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1135					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCTTCTCTTCCAGTTGAGGC	0.483		NaN											1	0	7.48243e-07	0.006214	8.30922e-07	8	129				
A2ML1	144568	broad.mit.edu	37	12	9020914	9020914	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:9020914C>A	uc001quz.3	+	31	4120	c.4022C>A	c.(4021-4023)CCG>CAG	p.P1341Q	A2ML1_uc001qva.1_Missense_Mutation_p.P921Q|A2ML1_uc010sgm.1_Missense_Mutation_p.P841Q|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1185						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGTGAGCAACCGACTTCACCT	0.488		NaN											1	0	1.15088e-07	0.028581	1.29233e-07	17	254				
STYK1	55359	broad.mit.edu	37	12	10780303	10780303	+	Silent	SNP	A	A	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:10780303A>C	uc001qys.2	-	7	1175	c.654T>G	c.(652-654)GGT>GGG	p.G218G		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	218	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						CATAGAGAAGACCATCCATAG	0.398		NaN								HNSCC(73;0.22)			0	0	0	0.016723	0	9	72				
TAS2R9	50835	broad.mit.edu	37	12	10962188	10962188	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:10962188C>G	uc001qyx.2	-	1	580	c.487G>C	c.(487-489)GAA>CAA	p.E163Q	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	163	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GTAATGTTTTCTTCATGACTG	0.378		NaN											0	0	0	0.016723	0	12	107				
CMAS	55907	broad.mit.edu	37	12	22208488	22208488	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:22208488C>G	uc001rfm.2	+	3	582	c.503C>G	c.(502-504)TCT>TGT	p.S168C	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	168					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						GGATATGATTCTGTTTTCTCT	0.353		NaN											0	0	0	0.001984	0	7	114				
ACVRL1	94	broad.mit.edu	37	12	52309201	52309201	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:52309201G>A	uc001rzj.2	+	7	1248	c.965G>A	c.(964-966)GGC>GAC	p.G322D	ACVRL1_uc001rzk.2_Missense_Mutation_p.G322D|ACVRL1_uc010snm.1_Missense_Mutation_p.G148D	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	322	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGTACACAGGGCAAACCAGCC	0.642		NaN							Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.014758	0	3	25				
GRASP	160622	broad.mit.edu	37	12	52404711	52404711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:52404711G>C	uc001rzo.1	+	3	399	c.343G>C	c.(343-345)GAG>CAG	p.E115Q	GRASP_uc001rzp.1_5'UTR	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	115	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTTCGGCTTTGAGATCCAGGT	0.547		NaN											0	0	0	0.010729	0	11	134				
ESPL1	9700	broad.mit.edu	37	12	53662888	53662888	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:53662888G>A	uc001sck.2	+	3	253	c.162G>A	c.(160-162)CTG>CTA	p.L54L	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	54					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						ATGCCATCCTGAGGGCTTGCA	0.552		NaN											0	0	0	0.001984	0	6	91				
NCKAP1L	3071	broad.mit.edu	37	12	54894397	54894397	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:54894397C>T	uc001sgc.3	+	3	373	c.294C>T	c.(292-294)GTC>GTT	p.V98V	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.V48V	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	98					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TTGTGGATGTCATGGAATTTC	0.398		NaN											0	0	0	0.016723	0	13	181				
NCKAP1L	3071	broad.mit.edu	37	12	54912718	54912718	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:54912718G>C	uc001sgc.3	+	15	1520	c.1441G>C	c.(1441-1443)GAA>CAA	p.E481Q	NCKAP1L_uc010sox.1_Missense_Mutation_p.E23Q|NCKAP1L_uc010soy.1_Missense_Mutation_p.E431Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	481					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						AGAAAAATTTGAATTCTCAGG	0.403		NaN											0	0	0	0.004482	0	8	72				
C12orf66	144577	broad.mit.edu	37	12	64587993	64587993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:64587993C>T	uc001srw.3	-	3	1026	c.967G>A	c.(967-969)GAG>AAG	p.E323K	C12orf66_uc009zql.2_Missense_Mutation_p.E270K	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	323										ovary(1)	1						TGAAAACTCTCAGAACCTCTG	0.473		NaN											0	0	0	0.016723	0	12	174				
C12orf66	144577	broad.mit.edu	37	12	64588249	64588249	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:64588249C>T	uc001srw.3	-	3	770	c.711G>A	c.(709-711)AAG>AAA	p.K237K	C12orf66_uc009zql.2_Silent_p.K184K	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	237										ovary(1)	1						ACAGATGTTTCTTGGTCTCCC	0.493		NaN											0	0	0	0.004482	0	8	66				
DNAH10	196385	broad.mit.edu	37	12	124362399	124362399	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr12:124362399C>T	uc001uft.3	+	47	7987	c.7962C>T	c.(7960-7962)TTC>TTT	p.F2654F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2654	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTACATCTTCAACCTTCGAG	0.443		NaN											0	0	0	0.007413	0	18	259				
DNAJC3	5611	broad.mit.edu	37	13	96409943	96409943	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr13:96409943C>T	uc001vmq.2	+	5	547	c.439C>T	c.(439-441)CAA>TAA	p.Q147*	DNAJC3_uc001vmr.2_Intron	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	147					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGCACAGTCTCAACTTATAAA	0.343		NaN											0	0	0	0.004482	0	9	90				
OR4K1	79544	broad.mit.edu	37	14	20404396	20404396	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:20404396G>A	uc001vwj.1	+	1	571	c.571G>A	c.(571-573)GAT>AAT	p.D191N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTTGCATGGATACATATGA	0.443		NaN											0	0	0	0.014758	0	5	327				
MIA2	117153	broad.mit.edu	37	14	39716635	39716635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:39716635C>T	uc001wux.2	+	4	1051	c.857C>T	c.(856-858)TCA>TTA	p.S286L	MIA2_uc010amy.1_Missense_Mutation_p.S217L	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	286						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAAATTGATTCAGTGCCAAAG	0.398		NaN											0	0	0	0.001984	0	7	91				
FANCM	57697	broad.mit.edu	37	14	45658433	45658433	+	Silent	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:45658433G>C	uc001wwd.3	+	20	5307	c.5208G>C	c.(5206-5208)CTG>CTC	p.L1736L	FANCM_uc010anf.2_Silent_p.L1710L|FANCM_uc001wwe.3_Silent_p.L1272L|FANCM_uc010ang.2_Silent_p.L950L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1736	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AGACATCGCTGAATTTAAAGG	0.418		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.010504	0	19	237				
POLE2	5427	broad.mit.edu	37	14	50118050	50118050	+	Silent	SNP	T	T	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:50118050T>C	uc001wwu.2	-	16	1271	c.1257A>G	c.(1255-1257)TTA>TTG	p.L419L	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.L133L|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.L134L	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	419					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					TTTTATTTACTAAGTCTTCAC	0.323		NaN											0	0	0	0.021553	0	5	66				
PLEKHG3	26030	broad.mit.edu	37	14	65198166	65198166	+	Missense_Mutation	SNP	C	C	T	rs145887123		TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:65198166C>T	uc001xho.1	+	8	1206	c.937C>T	c.(937-939)CGC>TGC	p.R313C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R257C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R313C|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	313	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGCGTGCATCGCGTGCGCAA	0.552		NaN											0	0	0	0.014758	0	5	67				
NUDT14	256281	broad.mit.edu	37	14	105639498	105639498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr14:105639498C>T	uc010tyn.1	-	5	643	c.529G>A	c.(529-531)GAG>AAG	p.E177K	NUDT14_uc001yqi.2_RNA	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14	177	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCAATGAGCTCACCCTCCTCC	0.622		NaN								HNSCC(42;0.11)			0	0	0	0.009096	0	4	34				
CEP152	22995	broad.mit.edu	37	15	49076285	49076285	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr15:49076285C>T	uc001zwy.2	-	10	1240	c.1206G>A	c.(1204-1206)GTG>GTA	p.V402V	CEP152_uc001zwz.2_Silent_p.V402V|CEP152_uc001zxa.1_Silent_p.V309V	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	402	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCAGTTGTTTCACGTGATCTT	0.333		NaN											0	0	0	0.021553	0	5	66				
ZNF609	23060	broad.mit.edu	37	15	64968069	64968069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr15:64968069G>A	uc002ann.2	+	4	3016	c.3016G>A	c.(3016-3018)GAA>AAA	p.E1006K		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1006						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GCAGCAGTACGAAGAACAGCA	0.562		NaN											0	0	0	0.014758	0	4	115				
CORO2B	10391	broad.mit.edu	37	15	69018260	69018260	+	Missense_Mutation	SNP	C	C	T	rs146678597		TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr15:69018260C>T	uc002arj.3	+	12	1419	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	CORO2B_uc010bic.2_Missense_Mutation_p.R459W|CORO2B_uc002ark.2_Missense_Mutation_p.R231W	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	464	Potential.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CATCCGCATTCGGCAGCTCCA	0.557		NaN											0	0	0	0.009096	0	4	52				
RLBP1	6017	broad.mit.edu	37	15	89758326	89758326	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr15:89758326C>G	uc002bnl.2	-	6	870	c.490G>C	c.(490-492)GAG>CAG	p.E164Q		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	164	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCCAGTTCTCAATGTTGAAG	0.577		NaN											0	0	0	0.00308	0	7	121				
GLYR1	84656	broad.mit.edu	37	16	4882060	4882060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr16:4882060C>T	uc002cxx.3	-	5	494	c.457G>A	c.(457-459)GAG>AAG	p.E153K	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.E84K|GLYR1_uc002cya.2_Missense_Mutation_p.E153K|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	153					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GAGCCTCTCTCTGAAGAGCCT	0.527		NaN											0	0	0	0.010729	0	11	191				
ADAT1	23536	broad.mit.edu	37	16	75654613	75654613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr16:75654613G>A	uc002feo.1	-	3	187	c.85C>T	c.(85-87)CAT>TAT	p.H29Y	ADAT1_uc002fep.1_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	29					tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						GTCCACTCATGGTTTGGCTCA	0.522		NaN											0	0	0	0.021553	0	6	67				
KARS	3735	broad.mit.edu	37	16	75669620	75669620	+	Silent	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr16:75669620G>T	uc002feq.2	-	6	801	c.753C>A	c.(751-753)ATC>ATA	p.I251I	KARS_uc002fer.2_Silent_p.I279I|KARS_uc002fes.2_Silent_p.I95I|KARS_uc010cgz.2_Silent_p.I95I	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	251					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	TTATATATGTGATGATCTTAG	0.443		NaN											1	0	7.48243e-07	0.006214	8.30922e-07	9	81				
KARS	3735	broad.mit.edu	37	16	75669626	75669626	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr16:75669626C>G	uc002feq.2	-	6	795	c.747G>C	c.(745-747)AAG>AAC	p.K249N	KARS_uc002fer.2_Missense_Mutation_p.K277N|KARS_uc002fes.2_Missense_Mutation_p.K93N|KARS_uc010cgz.2_Missense_Mutation_p.K93N	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	249					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	ATGTGATGATCTTAGAGCGGA	0.433		NaN											0	0	0	0.006214	0	9	88				
TAF1C	9013	broad.mit.edu	37	16	84214979	84214979	+	Silent	SNP	C	C	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr16:84214979C>A	uc002fhn.2	-	10	1425	c.1197G>T	c.(1195-1197)GTG>GTT	p.V399V	TAF1C_uc002fhm.2_Silent_p.V306V|TAF1C_uc010vnx.1_Silent_p.V373V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.V67V|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.V67V|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	399					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CCACGGTCAGCACCCGAGGGT	0.667		NaN											1	0	0.00116845	0.021553	0.00126267	6	12				
KCTD11	147040	broad.mit.edu	37	17	7256592	7256592	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:7256592C>G	uc002gge.3	+	1	1385	c.331C>G	c.(331-333)CAC>GAC	p.H111D	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	111					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				GGGACCCCATCACTATGAGCT	0.632		NaN											0	0	0	0.001984	0	6	59				
PFAS	5198	broad.mit.edu	37	17	8168266	8168266	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:8168266G>A	uc002gkr.2	+	18	2244	c.2103G>A	c.(2101-2103)CTG>CTA	p.L701L	PFAS_uc010vuv.1_Silent_p.L277L|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	701					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGGGCCCCTGCAAACTCCTC	0.632		NaN											0	0	0	0.004672	0	3	8				
CCL23	6368	broad.mit.edu	37	17	34344932	34344932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:34344932C>T	uc002hkt.1	-	1	74	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CCL23_uc002hks.1_Missense_Mutation_p.M1I	NM_145898	NP_665905	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8	1					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CGGAGACCTTCATCCTCCTGG	0.577		NaN											0	0	0	0.014758	0	4	28				
LRRC46	90506	broad.mit.edu	37	17	45912735	45912735	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:45912735T>C	uc002ima.2	+	4	498	c.242T>C	c.(241-243)ATT>ACT	p.I81T	LRRC46_uc002imb.2_Missense_Mutation_p.I34T	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	81	LRR 2.									ovary(1)	1						ATCCAGCAAATTGAGAACCTG	0.547		NaN											0	0	0	0.016522	0	21	195				
LRRC46	90506	broad.mit.edu	37	17	45913412	45913412	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:45913412G>A	uc002ima.2	+	6	652	c.396G>A	c.(394-396)CAG>CAA	p.Q132Q	LRRC46_uc002imb.2_Silent_p.Q85Q	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	132	LRR 4.									ovary(1)	1						AGTTCCCCCAGAGCCTTCTCA	0.453		NaN											0	0	0	0.001984	0	7	58				
MSI2	124540	broad.mit.edu	37	17	55674294	55674294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:55674294G>A	uc002iuz.1	+	8	693	c.520G>A	c.(520-522)GAA>AAA	p.E174K	MSI2_uc010wnm.1_Missense_Mutation_p.E152K|MSI2_uc002iva.2_Missense_Mutation_p.E170K	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	174	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCATTTCCATGAAATCAATAA	0.418		NaN	T	HOXA9	CML								0	0	0	0.014758	0	5	113				
PPM1E	22843	broad.mit.edu	37	17	57058003	57058003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:57058003C>A	uc002iwx.2	+	7	2006	c.1879C>A	c.(1879-1881)CCC>ACC	p.P627T	PPM1E_uc010ddd.2_Missense_Mutation_p.P390T	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	636					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGGAGAGTTTCCCACTGCTTT	0.428		NaN											1	0	0.000274275	0.004482	0.000301253	9	260				
MED13	9969	broad.mit.edu	37	17	60028354	60028354	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:60028354C>G	uc002izo.2	-	28	6200	c.6123G>C	c.(6121-6123)CAG>CAC	p.Q2041H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2041					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GATCAGTACTCTGACCCTTAA	0.373		NaN											0	0	0	0.004482	0	7	98				
HELZ	9931	broad.mit.edu	37	17	65162678	65162678	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:65162678T>A	uc010wqk.1	-	15	1998	c.1811A>T	c.(1810-1812)CAC>CTC	p.H604L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.H604L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGTGCATAGTGCATTTCACA	0.393		NaN											0	0	0	0.00308	0	7	154				
BPTF	2186	broad.mit.edu	37	17	65889808	65889808	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:65889808C>T	uc002jgf.2	+	6	2439	c.2378C>T	c.(2377-2379)TCA>TTA	p.S793L	BPTF_uc002jge.2_Missense_Mutation_p.S919L|BPTF_uc010wqm.1_Missense_Mutation_p.S856L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	919	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCCCTTCATCCTTTCTT	0.368		NaN											0	0	0	0.021553	0	4	93				
HGS	9146	broad.mit.edu	37	17	79660899	79660899	+	Splice_Site	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr17:79660899G>T	uc002kbg.2	+	11	918	c.841_splice	c.e11-1	p.R281_splice		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine						cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTCTGCCTCAGAGACAGAAGT	0.677		NaN											1	0	0.00909568	0.009096	0.00972464	4	38				
RNF125	54941	broad.mit.edu	37	18	29617078	29617078	+	Splice_Site	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr18:29617078G>T	uc002kxf.1	+	2	547	c.165_splice	c.e2-1	p.V55_splice		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125						negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0						GTTTGGGGTAGATTCTGCCGT	0.418		NaN											1	0	1.55469e-16	0.01892	1.7655e-16	23	371				
ZFR2	23217	broad.mit.edu	37	19	3819052	3819052	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:3819052T>C	uc002lyw.2	-	12	1934	c.1922A>G	c.(1921-1923)GAC>GGC	p.D641G		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	641						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCTGCGCTTGTCACCCTCTTC	0.682		NaN											0	0	0	0.004672	0	2	6				
ZNF358	140467	broad.mit.edu	37	19	7584139	7584139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:7584139C>T	uc002mgn.2	+	2	181	c.11C>T	c.(10-12)TCA>TTA	p.S4L		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	4					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						ATGCGGCGCTCAGTCCTGGTC	0.597		NaN											0	0	0	0.021553	0	6	81				
ZNF491	126069	broad.mit.edu	37	19	11916920	11916920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:11916920C>T	uc002mso.1	+	3	437	c.152C>T	c.(151-153)TCC>TTC	p.S51F		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	51	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGATATTCATCCTTTAATAGG	0.393		NaN											0	0	0	0.00308	0	6	111				
COPE	11316	broad.mit.edu	37	19	19021838	19021838	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:19021838C>T	uc002nkk.2	-	3	274	c.232G>A	c.(232-234)GCC>ACC	p.A78T	COPE_uc002nkl.2_Missense_Mutation_p.A78T|COPE_uc002nkm.2_Missense_Mutation_p.A78T|COPE_uc002nkn.2_Missense_Mutation_p.A78T|HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_Intron	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	78					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity				0						AGCTCAGGGGCCGAGGAGGGC	0.632		NaN											0	0	0	0.004482	0	9	156				
ZNF429	353088	broad.mit.edu	37	19	21720336	21720336	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:21720336C>G	uc002nqd.1	+	4	1618	c.1481C>G	c.(1480-1482)TCA>TGA	p.S494*	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	494	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAGCAGTCCTCAAACCTTAAC	0.398		NaN											0	0	0	0.004482	0	9	59				
ZNF429	353088	broad.mit.edu	37	19	21720683	21720683	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:21720683C>G	uc002nqd.1	+	4	1965	c.1828C>G	c.(1828-1830)CAA>GAA	p.Q610E	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	610	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAGACTTACTCAACATAAGAA	0.358		NaN											0	0	0	0.001984	0	7	99				
ERF	2077	broad.mit.edu	37	19	42754675	42754675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:42754675G>C	uc002ote.3	-	2	223	c.65C>G	c.(64-66)CCT>CGT	p.P22R	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	22					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CCTTGAGCCAGGGGACGACTC	0.642		NaN											0	0	0	0.009096	0	4	37				
ZNF615	284370	broad.mit.edu	37	19	52496411	52496411	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:52496411T>C	uc002pye.1	-	6	2210	c.1918A>G	c.(1918-1920)ATA>GTA	p.I640V	ZNF615_uc002pyf.1_Missense_Mutation_p.I651V|ZNF615_uc002pyg.1_Missense_Mutation_p.I532V|ZNF615_uc002pyh.1_Missense_Mutation_p.I651V|ZNF615_uc010epi.1_Missense_Mutation_p.I647V|ZNF615_uc010ydg.1_Missense_Mutation_p.I645V	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	640	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGATGTTGTATGAGGCATGTC	0.378		NaN											0	0	0	0.024245	0	16	308				
NCR1	9437	broad.mit.edu	37	19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	rs142626797		TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr19:55420628C>T	uc002qib.2	+	4	418	c.380C>T	c.(379-381)TCG>TTG	p.S127L	NCR1_uc002qic.2_Missense_Mutation_p.S127L|NCR1_uc002qie.2_Missense_Mutation_p.S127L|NCR1_uc002qid.2_Missense_Mutation_p.S32L|NCR1_uc002qif.2_Missense_Mutation_p.S32L|NCR1_uc010esj.2_Missense_Mutation_p.S20L	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127	Extracellular (Potential).				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.468		NaN											0	0	0	0.021553	0	5	88				
UGP2	7360	broad.mit.edu	37	2	64114722	64114722	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:64114722G>A	uc002scm.2	+	8	1564	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	UGP2_uc002scl.2_Missense_Mutation_p.E409K|UGP2_uc010ypx.1_Missense_Mutation_p.E429K	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	420					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GACAATGAGTGAAAAGCGGGA	0.403		NaN											0	0	0	0.010729	0	12	195				
VPS54	51542	broad.mit.edu	37	2	64208891	64208891	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:64208891G>A	uc002scq.2	-	3	430	c.267C>T	c.(265-267)TTC>TTT	p.F89F	VPS54_uc002scp.2_Silent_p.F77F	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	89					protein transport|retrograde transport, endosome to Golgi						0						TTTTTGTGAAGAAGTCAGATT	0.388		NaN											0	0	0	0.012319	0	22	269				
CCDC142	84865	broad.mit.edu	37	2	74709847	74709847	+	Missense_Mutation	SNP	G	G	A	rs143866681	byFrequency	TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:74709847G>A	uc002slr.2	-	1	511	c.118C>T	c.(118-120)CGC>TGC	p.R40C	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.R40C|CCDC142_uc002slp.2_Missense_Mutation_p.R40C	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	40										central_nervous_system(1)	1						ACCTCCCAGCGAAGACCGCCC	0.682		NaN											0	0	0	0.004482	0	8	62				
C2orf51	200523	broad.mit.edu	37	2	88828645	88828645	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:88828645G>C	uc002stb.1	+	4	338	c.196G>C	c.(196-198)GAT>CAT	p.D66H		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	66						nucleus				skin(1)	1						CAAGCTAACAGATGGGTACCC	0.532		NaN											0	0	0	0.004482	0	8	84				
BUB1	699	broad.mit.edu	37	2	111427076	111427076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:111427076G>C	uc002tgc.2	-	6	633	c.521C>G	c.(520-522)TCA>TGA	p.S174*	BUB1_uc010yxh.1_Nonsense_Mutation_p.S154*|BUB1_uc010fkb.2_Nonsense_Mutation_p.S174*|BUB1_uc002tgd.2_Nonsense_Mutation_p.S174*	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	174	BUB1 N-terminal.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATTTGATTTTGATGTTATCAT	0.358		NaN											0	0	0	0.009096	0	4	116				
SCTR	6344	broad.mit.edu	37	2	120197742	120197742	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:120197742G>A	uc002tma.2	-	13	1500	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	SCTR_uc002tlz.2_Missense_Mutation_p.A247V	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	425	Cytoplasmic (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	CAAGTGGCTGGCCTTGGTGCT	0.627		NaN											0	0	0	0.014758	0	5	24				
ARHGEF4	50649	broad.mit.edu	37	2	131799455	131799455	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:131799455A>C	uc002tsa.1	+	10	1925	c.1405A>C	c.(1405-1407)AAG>CAG	p.K469Q	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.K469Q|ARHGEF4_uc010fmx.1_Missense_Mutation_p.K409Q|ARHGEF4_uc002tsc.1_Missense_Mutation_p.K12Q	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	469					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAACGAGCGGAAGCGGAGACT	0.562		NaN											0	0	0	0.004672	0	3	58				
YSK4	80122	broad.mit.edu	37	2	135739074	135739074	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:135739074G>A	uc002tue.1	-	9	3268	c.3237C>T	c.(3235-3237)CTC>CTT	p.L1079L	YSK4_uc002tuf.1_Silent_p.L261L|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L966L|YSK4_uc010zbg.1_Silent_p.L211L|YSK4_uc002tuh.3_Silent_p.L807L|YSK4_uc002tui.3_Missense_Mutation_p.S1147L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1079	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTGACTAGTGAGACCACAGT	0.368		NaN											0	0	0	0.001984	0	7	199				
LRP1B	53353	broad.mit.edu	37	2	141641540	141641540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:141641540C>T	uc002tvj.1	-	25	4987	c.4015G>A	c.(4015-4017)GGC>AGC	p.G1339S	LRP1B_uc010fnl.1_Missense_Mutation_p.G521S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1339	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGTCAGGCCTTCTGGAGTA	0.468		NaN								TSP Lung(27;0.18)			0	0	0	0.024245	0	16	131				
SLC4A10	57282	broad.mit.edu	37	2	162751249	162751249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:162751249G>C	uc002ubx.3	+	11	1439	c.1255G>C	c.(1255-1257)GAG>CAG	p.E419Q	SLC4A10_uc010fpa.1_Missense_Mutation_p.E431Q|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.E389Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.E400Q	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	419	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						AGGAATTGATGAGTTTCTGGA	0.343		NaN											0	0	0	0.006214	0	8	94				
FASTKD1	79675	broad.mit.edu	37	2	170416964	170416964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:170416964G>A	uc002uev.3	-	5	1292	c.904C>T	c.(904-906)CAT>TAT	p.H302Y	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.H288Y|FASTKD1_uc002uey.2_Missense_Mutation_p.H265Y	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	302					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CTAGCAGGATGATTACACAGA	0.299		NaN											0	0	0	0.008871	0	18	239				
FASTKD1	79675	broad.mit.edu	37	2	170417266	170417266	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:170417266G>T	uc002uev.3	-	5	990	c.602C>A	c.(601-603)TCT>TAT	p.S201Y	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S187Y|FASTKD1_uc002uey.2_Missense_Mutation_p.S164Y	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	201					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TATTAAAGAAGATATGTTGAC	0.294		NaN											1	0	0.000602214	0.014758	0.000654298	4	48				
METTL8	79828	broad.mit.edu	37	2	172195788	172195788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:172195788G>A	uc010zdo.1	-	4	653	c.512C>T	c.(511-513)TCT>TTT	p.S171F	METTL8_uc002ugu.3_Missense_Mutation_p.S171F|METTL8_uc002ugv.3_Missense_Mutation_p.S171F|METTL8_uc002ugt.3_Missense_Mutation_p.S171F|METTL8_uc002ugs.3_Missense_Mutation_p.S121F|METTL8_uc010zdp.1_Missense_Mutation_p.S126F	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	methyltransferase like 8	171							methyltransferase activity			ovary(1)	1						GGAAAAATCAGATTCTGTTTT	0.383		NaN											0	0	0	0.020292	0	14	269				
MAP2	4133	broad.mit.edu	37	2	210560016	210560016	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:210560016C>T	uc002vde.1	+	7	3370	c.3122C>T	c.(3121-3123)GCT>GTT	p.A1041V	MAP2_uc002vdc.1_Missense_Mutation_p.A1041V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1037V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1041					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGGATTTTGCTGTCCAGGGT	0.443		NaN											0	0	0	0.014758	0	5	101				
SPHKAP	80309	broad.mit.edu	37	2	228883236	228883236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr2:228883236G>T	uc002vpq.2	-	7	2381	c.2334C>A	c.(2332-2334)CAC>CAA	p.H778Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.H778Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.H778Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	778						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTCGTGTTGTGTGAATTGC	0.512		NaN											1	0	1.80694e-10	0.009535	2.04043e-10	30	451				
NTSR1	4923	broad.mit.edu	37	20	61391508	61391508	+	Silent	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr20:61391508C>G	uc002ydf.2	+	4	1517	c.1146C>G	c.(1144-1146)CTC>CTG	p.L382L		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	382	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGGCCTGCCTCTGCCCGGTGT	0.627		NaN											0	0	0	0.00308	0	3	57				
SUN2	25777	broad.mit.edu	37	22	39141785	39141785	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr22:39141785C>T	uc003awh.1	-	9	1001	c.717G>A	c.(715-717)CAG>CAA	p.Q239Q	SUN2_uc011anz.1_Silent_p.Q274Q|SUN2_uc011aoa.1_Silent_p.Q228Q|SUN2_uc003awi.1_Silent_p.Q239Q|SUN2_uc010gxq.1_Silent_p.Q260Q|SUN2_uc010gxr.1_Silent_p.Q239Q|SUN2_uc010gxs.1_Silent_p.Q239Q	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	239	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						GGTGGAATGTCTGCAGCCCAT	0.617		NaN											0	0	0	0.009096	0	4	38				
CCDC134	79879	broad.mit.edu	37	22	42209814	42209814	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr22:42209814C>T	uc003bbh.1	+	6	661	c.552C>T	c.(550-552)ATC>ATT	p.I184I	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134 precursor	184						extracellular region				ovary(2)	2						CATTTAAAATCGACCGCACAG	0.567		NaN											0	0	0	0.014758	0	4	86				
XYLB	9942	broad.mit.edu	37	3	38404477	38404477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:38404477C>T	uc003cic.2	+	4	369	c.260C>T	c.(259-261)TCT>TTT	p.S87F	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	87					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGACTTCTCTCAAGTCCTA	0.522		NaN											0	0	0	0.014758	0	4	119				
ZNF502	91392	broad.mit.edu	37	3	44763393	44763393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:44763393C>G	uc011baa.1	+	4	1339	c.1084C>G	c.(1084-1086)CAG>GAG	p.Q362E	ZNF502_uc003cns.2_Missense_Mutation_p.Q362E|ZNF502_uc011bab.1_Missense_Mutation_p.Q362E|ZNF502_uc003cnt.2_Missense_Mutation_p.Q362E	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	362	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGCCTTTTGTCAGAGCCCATC	0.408		NaN											0	0	0	0.001984	0	7	72				
PRSS45	377047	broad.mit.edu	37	3	46783844	46783844	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:46783844G>A	uc010hjl.2	-	4	683	c.683C>T	c.(682-684)TCC>TTC	p.S228F	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	260					proteolysis		serine-type endopeptidase activity				0						GGGAGGTCAGGAGCCCATCTG	0.552		NaN											0	0	0	0.00308	0	7	168				
PVRL3	25945	broad.mit.edu	37	3	110845149	110845149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:110845149C>T	uc003dxt.1	+	5	1036	c.1036C>T	c.(1036-1038)CAA>TAA	p.Q346*	PVRL3_uc003dxu.1_Nonsense_Mutation_p.Q323*	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	346	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TTCCCTTGGTCAAAGAAGTGA	0.313		NaN											0	0	0	0.021553	0	5	62				
MUC13	56667	broad.mit.edu	37	3	124646827	124646827	+	Silent	SNP	T	T	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:124646827T>C	uc003ehq.1	-	2	87	c.63A>G	c.(61-63)CAA>CAG	p.Q21Q		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	21	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						CTGAGTTGCCTTGGTTGGTGG	0.418		NaN											0	0	0	0.004672	0	3	140				
SLC41A3	54946	broad.mit.edu	37	3	125726027	125726027	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:125726027C>T	uc003eij.2	-	11	1522	c.1296G>A	c.(1294-1296)CTG>CTA	p.L432L	SLC41A3_uc003eii.2_Silent_p.L406L|SLC41A3_uc003eil.2_Silent_p.L432L|SLC41A3_uc003eik.2_Silent_p.L396L|SLC41A3_uc011bkh.1_Silent_p.L315L	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	432						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		GGTGCCAAGTCAGCCGAACCA	0.547		NaN											0	0	0	0.014758	0	4	46				
DNAJC13	23317	broad.mit.edu	37	3	132166277	132166277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:132166277C>T	uc003eor.2	+	4	322	c.257C>T	c.(256-258)TCT>TTT	p.S86F	DNAJC13_uc010htq.1_Missense_Mutation_p.S86F	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	86							heat shock protein binding			ovary(1)|breast(1)	2						TTAAAATTTTCTACAGAGCAC	0.353		NaN											0	0	0	0.021553	0	5	83				
CHST2	9435	broad.mit.edu	37	3	142840871	142840871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:142840871A>G	uc003evm.2	+	2	2102	c.1213A>G	c.(1213-1215)ACG>GCG	p.T405A		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	405	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						TATGGCTAAGACGCTGCAGAC	0.652		NaN											0	0	0	0.009096	0	4	63				
LAMP3	27074	broad.mit.edu	37	3	182853541	182853541	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:182853541G>C	uc003flh.3	-	5	1305	c.1081C>G	c.(1081-1083)CAA>GAA	p.Q361E		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	361	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCAAAGGCTTGAAGTTGGACA	0.478		NaN											0	0	0	0.021523	0	26	297				
HRG	3273	broad.mit.edu	37	3	186383944	186383944	+	Nonsense_Mutation	SNP	C	C	T	rs146244921	by1000genomes	TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:186383944C>T	uc003fqq.2	+	1	147	c.124C>T	c.(124-126)CGA>TGA	p.R42*		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	42	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAATAAAAGGCGACGGGATGG	0.512		NaN											0	0	0	0.004482	0	9	82				
TNK2	10188	broad.mit.edu	37	3	195593873	195593873	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:195593873G>A	uc003fvu.1	-	14	3540	c.2997C>T	c.(2995-2997)TTC>TTT	p.F999F	TNK2_uc003fvq.1_Silent_p.F408F|TNK2_uc003fvr.1_Silent_p.F526F|TNK2_uc003fvs.1_Silent_p.F1001F|TNK2_uc003fvt.1_Silent_p.F1047F	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	999				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GACCCAGCCCGAAGAGCTGCT	0.697		NaN											0	0	0	0.009096	0	3	21				
IQCG	84223	broad.mit.edu	37	3	197665561	197665561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr3:197665561C>T	uc003fyo.2	-	4	519	c.373G>A	c.(373-375)GAG>AAG	p.E125K	IQCG_uc003fyn.2_Missense_Mutation_p.E27K|IQCG_uc003fyp.2_Missense_Mutation_p.E125K|IQCG_uc003fyq.3_Missense_Mutation_p.E125K	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	125											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGTCCTTCCTCAGTTATTAAC	0.413		NaN											0	0	0	0.019004	0	33	497				
DGKQ	1609	broad.mit.edu	37	4	954890	954890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:954890C>T	uc003gbw.2	-	22	2748	c.2674G>A	c.(2674-2676)GAG>AAG	p.E892K	DGKQ_uc010ibn.2_Missense_Mutation_p.E879K	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	892					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCAGGGCTCCCCGTCCACC	0.692		NaN											0	0	0	0.009096	0	4	28				
TBC1D1	23216	broad.mit.edu	37	4	37903928	37903928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:37903928C>T	uc003gtb.2	+	2	555	c.212C>T	c.(211-213)TCT>TTT	p.S71F	TBC1D1_uc011byd.1_Missense_Mutation_p.S71F|TBC1D1_uc010ifd.2_Missense_Mutation_p.S71F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	71						nucleus	Rab GTPase activator activity			ovary(1)	1						GTTTCACCCTCTGGACTGAGA	0.547		NaN											0	0	0	0.001984	0	6	168				
LRRC66	339977	broad.mit.edu	37	4	52860928	52860928	+	Missense_Mutation	SNP	C	C	T	rs76998469		TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:52860928C>T	uc003gzi.2	-	4	2273	c.2260G>A	c.(2260-2262)GAG>AAG	p.E754K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	754						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						ACATTTTCCTCAAGACTGTCT	0.483		NaN											0	0	0	0.00308	0	7	120				
KDR	3791	broad.mit.edu	37	4	55961744	55961744	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:55961744C>T	uc003has.2	-	20	3119	c.2817G>A	c.(2815-2817)AAG>AAA	p.K939K	KDR_uc003hat.1_Silent_p.K939K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	939	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATGACATACCTTGTAGGGGA	0.413		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.004482	0	8	99				
FRAS1	80144	broad.mit.edu	37	4	79294005	79294005	+	Silent	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:79294005C>G	uc003hlb.2	+	24	3443	c.3003C>G	c.(3001-3003)CTC>CTG	p.L1001L	FRAS1_uc003hkw.2_Silent_p.L1001L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1001	FU 13.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ACTCGGGCCTCTGCAAGAGTA	0.537		NaN											0	0	0	0.006214	0	8	86				
SMARCAD1	56916	broad.mit.edu	37	4	95129666	95129666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:95129666G>A	uc003htc.3	+	2	376	c.121G>A	c.(121-123)GAA>AAA	p.E41K	SMARCAD1_uc003htb.3_Missense_Mutation_p.E41K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E41K|SMARCAD1_uc010ila.2_5'UTR	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	41					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTTAGTGCTGAAGAGGAGAA	0.438		NaN											0	0	0	0.006214	0	7	127				
KIAA1109	84162	broad.mit.edu	37	4	123166210	123166210	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:123166210G>A	uc003ieh.2	+	30	4997	c.4952G>A	c.(4951-4953)CGA>CAA	p.R1651Q	KIAA1109_uc003iek.2_Missense_Mutation_p.R270Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1651					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GCTAGTACCCGACATCCAGCT	0.343		NaN											0	0	0	0.00308	0	8	192				
ARHGAP10	79658	broad.mit.edu	37	4	148743974	148743974	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:148743974G>A	uc003ilf.2	+	2	250	c.250_splice	c.e2+1	p.D84_splice	ARHGAP10_uc003ile.1_Splice_Site_p.D84_splice	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CGATGCATAGGTAATTAAACA	0.393		NaN											0	0	0	0.009096	0	4	152				
DCLK2	166614	broad.mit.edu	37	4	151023764	151023764	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr4:151023764G>A	uc003ilm.3	+	2	656	c.556G>A	c.(556-558)GAA>AAA	p.E186K	DCLK2_uc003iln.3_Missense_Mutation_p.E186K|DCLK2_uc003ilo.3_Missense_Mutation_p.E186K|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	186					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					TGTGAAAAGTGAAGTAAAAGA	0.428		NaN											0	0	0	0.008291	0	10	53				
F2R	2149	broad.mit.edu	37	5	76028929	76028929	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr5:76028929C>G	uc003ken.3	+	2	1144	c.879C>G	c.(877-879)ATC>ATG	p.I293M		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	293	Cytoplasmic (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.I293I(1)		ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATGTGTCTATCATTCGATGTC	0.483		NaN											0	0	0	0.00308	0	8	137				
FAT2	2196	broad.mit.edu	37	5	150920280	150920280	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr5:150920280C>G	uc003lue.3	-	10	8900	c.8887G>C	c.(8887-8889)GAG>CAG	p.E2963Q	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2963	Extracellular (Potential).|Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCACTCATCTCCAACT	0.527		NaN											0	0	0	0.009096	0	4	69				
BNIP1	662	broad.mit.edu	37	5	172571562	172571562	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr5:172571562A>C	uc003mcj.3	+	1	118	c.14A>C	c.(13-15)CAA>CCA	p.Q5P	BNIP1_uc003mci.3_Missense_Mutation_p.Q5P|BNIP1_uc003mck.3_Missense_Mutation_p.Q5P|BNIP1_uc003mcl.3_Missense_Mutation_p.Q5P	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	5	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGGCTCCCCAAGACGTCCAC	0.607		NaN									OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	4	12				
ZKSCAN3	80317	broad.mit.edu	37	6	28333833	28333833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:28333833G>A	uc003nle.3	+	6	1604	c.1388G>A	c.(1387-1389)TGG>TAG	p.W463*	ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.W463*|ZKSCAN3_uc003nlf.3_Nonsense_Mutation_p.W315*|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	463				QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813).	positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GGAGAGGCCTGGAAAAGTAGG	0.433		NaN											0	0	0	0.021553	0	5	60				
MDC1	9656	broad.mit.edu	37	6	30670531	30670531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:30670531C>T	uc003nrg.3	-	13	6429	c.5989G>A	c.(5989-5991)GAG>AAG	p.E1997K	MDC1_uc003nrf.3_Missense_Mutation_p.E628K	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1997	Required for nuclear localization (NLS2).|BRCT 2.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CCTCTCACCTCTAGCAGCCTT	0.512		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.020292	0	13	196				
C6orf27	80737	broad.mit.edu	37	6	31734536	31734536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:31734536G>C	uc011dog.1	-	14	2126	c.1888C>G	c.(1888-1890)CAG>GAG	p.Q630E	C6orf27_uc003nxd.2_Missense_Mutation_p.Q305E	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	630						extracellular region				ovary(3)	3						AGCTGGGTCTGAAGACCTGGG	0.493		NaN											0	0	0	0.009096	0	4	52				
C6orf27	80737	broad.mit.edu	37	6	31735227	31735227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:31735227G>C	uc011dog.1	-	12	1939	c.1701C>G	c.(1699-1701)TTC>TTG	p.F567L	C6orf27_uc003nxd.2_Missense_Mutation_p.F242L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	567						extracellular region				ovary(3)	3						TCACCATCCAGAACTGCCCAA	0.602		NaN											0	0	0	0.004482	0	6	108				
TCP11	6954	broad.mit.edu	37	6	35088708	35088708	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:35088708C>T	uc003okd.2	-	6	913	c.732G>A	c.(730-732)CAG>CAA	p.Q244Q	TCP11_uc003ojz.1_Silent_p.Q169Q|TCP11_uc003oka.2_Silent_p.Q169Q|TCP11_uc003okb.2_Silent_p.Q168Q|TCP11_uc003okc.2_Silent_p.Q168Q|TCP11_uc011dsu.1_Silent_p.Q226Q|TCP11_uc011dsv.1_Silent_p.Q193Q|TCP11_uc011dsw.1_Silent_p.Q198Q	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	231					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						TGAGGAGTTCCTGGAATTTAG	0.443		NaN											0	0	0	0.01441	0	45	534				
ABCC10	89845	broad.mit.edu	37	6	43400436	43400436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:43400436G>A	uc003ouy.1	+	3	933	c.718G>A	c.(718-720)GAG>AAG	p.E240K	ABCC10_uc003ouz.1_Missense_Mutation_p.E197K	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	240						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCTGTGGAGAGCTCCGGCA	0.637		NaN											0	0	0	0.021553	0	5	56				
SLC17A5	26503	broad.mit.edu	37	6	74345112	74345112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:74345112C>G	uc003phn.3	-	6	940	c.812G>C	c.(811-813)AGA>ACA	p.R271T	SLC17A5_uc010kax.2_5'UTR|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.R140T	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	271			Missing (in ISSD).		anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						TACCTGATTTCTTAATGATGA	0.274		NaN											0	0	0	0.013537	0	12	94				
DOPEY1	23033	broad.mit.edu	37	6	83845382	83845382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:83845382C>T	uc003pjs.1	+	20	3175	c.2915C>T	c.(2914-2916)TCT>TTT	p.S972F	DOPEY1_uc011dyy.1_Missense_Mutation_p.S963F|DOPEY1_uc010kbl.1_Missense_Mutation_p.S963F|DOPEY1_uc003pjt.2_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	972					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTCGATGGTTCTACTAGCTCT	0.393		NaN											0	0	0	0.020292	0	14	182				
EZR	7430	broad.mit.edu	37	6	159191809	159191809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr6:159191809C>G	uc003qrt.3	-	9	1292	c.1077G>C	c.(1075-1077)AAG>AAC	p.K359N	EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.K327N|EZR_uc003qru.3_Missense_Mutation_p.K359N	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	359	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCTCTGCCTTCTTTGTCTTCT	0.567		NaN											0	0	0	0.008291	0	10	149				
FOXK1	221937	broad.mit.edu	37	7	4794948	4794948	+	Silent	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:4794948G>C	uc003snc.1	+	4	994	c.984G>C	c.(982-984)CTG>CTC	p.L328L	FOXK1_uc003sna.1_Silent_p.L165L|FOXK1_uc003snb.1_3'UTR	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	328	Fork-head.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCTGACCCTGAGCGGGATCT	0.642		NaN											0	0	0	0.001984	0	6	54				
MLXIPL	51085	broad.mit.edu	37	7	73010266	73010266	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:73010266C>G	uc003tyn.1	-	14	2140	c.2092G>C	c.(2092-2094)GAG>CAG	p.E698Q	MLXIPL_uc003tyj.1_Missense_Mutation_p.E77Q|MLXIPL_uc003tyk.1_Intron|MLXIPL_uc003tyl.1_Missense_Mutation_p.E696Q|MLXIPL_uc003tym.1_Intron|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.E604Q	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	698	Helix-loop-helix motif.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGATGTACTCAGCTGTCTTC	0.607		NaN											0	0	0	0.014758	0	4	26				
KIAA1324L	222223	broad.mit.edu	37	7	86556202	86556202	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:86556202T>G	uc011kha.1	-	9	1305	c.1120A>C	c.(1120-1122)AAA>CAA	p.K374Q	KIAA1324L_uc003uif.1_Missense_Mutation_p.K134Q|KIAA1324L_uc011kgz.1_Missense_Mutation_p.K260Q|KIAA1324L_uc003uie.2_Missense_Mutation_p.K207Q	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	374	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CGGCAGATTTTGGGCTCTATC	0.378		NaN											0	0	0	0.014758	0	5	190				
DBF4	10926	broad.mit.edu	37	7	87516657	87516657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:87516657C>T	uc003ujf.1	+	5	968	c.464C>T	c.(463-465)TCA>TTA	p.S155L	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	155	BRCT 2.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTTATTCCTTCAAATAGTATA	0.229		NaN											0	0	0	0.009096	0	4	36				
SAMD9	54809	broad.mit.edu	37	7	92734318	92734318	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:92734318C>G	uc003umf.2	-	3	1349	c.1093G>C	c.(1093-1095)GAT>CAT	p.D365H	SAMD9_uc003umg.2_Missense_Mutation_p.D365H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	365						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTTAAAATCTGCTTTAAAT	0.333		NaN											0	0	0	0.008291	0	9	188				
EPHB4	2050	broad.mit.edu	37	7	100410820	100410820	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:100410820G>A	uc003uwn.1	-	11	2258	c.1767C>T	c.(1765-1767)GTC>GTT	p.V589V	EPHB4_uc003uwm.1_Silent_p.V496V|EPHB4_uc010lhj.1_Silent_p.V589V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	589	Cytoplasmic (Potential).				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTCGATGTAGACCTTAGTAC	0.507		NaN											0	0	0	0.009096	0	4	88				
C7orf60	154743	broad.mit.edu	37	7	112472660	112472660	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:112472660C>G	uc003vgo.1	-	4	671	c.544G>C	c.(544-546)GAA>CAA	p.E182Q	C7orf60_uc011kms.1_Missense_Mutation_p.E208Q	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	182										ovary(2)|skin(1)	3						AGAAATTCTTCAAACTTCAGA	0.308		NaN											0	0	0	0.001984	0	6	133				
NOS3	4846	broad.mit.edu	37	7	150698385	150698385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:150698385G>C	uc003wif.2	+	11	1596	c.1300G>C	c.(1300-1302)GAG>CAG	p.E434Q	NOS3_uc011kuy.1_Missense_Mutation_p.E228Q|NOS3_uc011kuz.1_Missense_Mutation_p.E434Q|NOS3_uc011kva.1_Missense_Mutation_p.E434Q|NOS3_uc011kvb.1_Missense_Mutation_p.E434Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	434	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGGAGAATGAGCAGAAGGC	0.612		NaN											0	0	0	0.00308	0	5	83				
INSIG1	3638	broad.mit.edu	37	7	155094081	155094081	+	Silent	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr7:155094081C>T	uc003wly.2	+	4	869	c.658C>T	c.(658-660)CTA>TTA	p.L220L	INSIG1_uc011kvu.1_Silent_p.L68L|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	220	Helical; (Potential).				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCTTTTCTAGCTACGCT	0.438		NaN											0	0	0	0.006214	0	9	107				
EXTL3	2137	broad.mit.edu	37	8	28575593	28575593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr8:28575593G>A	uc003xgz.1	+	3	2610	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	673	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTATGAGCGGGAGGAAGTGCT	0.542		NaN											0	0	0	0.001984	0	7	97				
TEX15	56154	broad.mit.edu	37	8	30702398	30702398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr8:30702398C>G	uc003xil.2	-	1	4136	c.4136G>C	c.(4135-4137)AGA>ACA	p.R1379T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1379										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCTTTTTCTCTACAGCTCTG	0.398		NaN											0	0	0	0.001984	0	6	174				
WHSC1L1	54904	broad.mit.edu	37	8	38173473	38173473	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr8:38173473C>G	uc003xli.2	-	10	2461	c.1943G>C	c.(1942-1944)AGA>ACA	p.R648T	WHSC1L1_uc011lbm.1_Missense_Mutation_p.R648T|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R648T	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	648					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGATGTGTCTCTGTATGCTGA	0.433		NaN	T	NUP98	AML								0	0	0	0.021553	0	6	166				
RIMS2	9699	broad.mit.edu	37	8	104898276	104898276	+	Silent	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr8:104898276C>G	uc003yls.2	+	2	1024	c.783C>G	c.(781-783)CTC>CTG	p.L261L	RIMS2_uc003ylp.2_Silent_p.L483L|RIMS2_uc003ylw.2_Silent_p.L291L|RIMS2_uc003ylq.2_Silent_p.L291L|RIMS2_uc003ylr.2_Silent_p.L291L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	514					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGATTCTCTCAGTTCAGACC	0.438		NaN								HNSCC(12;0.0054)			0	0	0	0.00308	0	8	67				
CDC14B	8555	broad.mit.edu	37	9	99301371	99301371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr9:99301371C>T	uc004awj.2	-	7	1068	c.616G>A	c.(616-618)GAA>AAA	p.E206K	CDC14B_uc004awk.2_Missense_Mutation_p.E206K|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.E169K	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	206	Linker.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCATAGTGTTCATATTCATCA	0.279		NaN											0	0	0	0.001984	0	7	91				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr9:137328351C>T	uc004cfb.2	+	10	1442	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	RXRA_uc004cfc.1_Missense_Mutation_p.S330F	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											0	0	0	0.021553	0	5	86		Valid		
TPRN	286262	broad.mit.edu	37	9	140086816	140086816	+	Silent	SNP	G	G	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chr9:140086816G>T	uc004clt.2	-	3	1785	c.1785C>A	c.(1783-1785)GGC>GGA	p.G595G	TPRN_uc004clu.2_Silent_p.G595G	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	656					sensory perception of sound	stereocilium					0						AGCTGGACAGGCCTGTGAATG	0.672		NaN											1	0	1.23904e-05	0.014758	1.36839e-05	5	23				
SLC25A6	293	broad.mit.edu	37	X	1508489	1508489	+	Silent	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:1508489G>A	uc004cpt.2	-	2	339	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	81	Solcar 1.|Helical; Name=2; (By similarity).				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAGTGGGGAAGTAGCGAATGA	0.567		NaN											0	0	0	0.010729	0	11	189				
DDX53	168400	broad.mit.edu	37	X	23019978	23019978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:23019978G>A	uc004daj.2	+	1	1892	c.1804G>A	c.(1804-1806)GAG>AAG	p.E602K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	602						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						AGTAATGGCTGAGCAATACAA	0.383		NaN											0	0	0	0.009096	0	4	120				
FAM47A	158724	broad.mit.edu	37	X	34149795	34149795	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:34149795G>A	uc004ddg.2	-	1	634	c.601C>T	c.(601-603)CCA>TCA	p.P201S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	201	Pro-rich.									ovary(4)|central_nervous_system(1)	5						GGAGGCTCTGGGAGGAGATGG	0.617		NaN											0	0	0	0.004672	0	3	64				
ZNF630	57232	broad.mit.edu	37	X	47918817	47918817	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:47918817C>G	uc004div.3	-	5	1266	c.1014G>C	c.(1012-1014)CAG>CAC	p.Q338H	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.Q214H	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	338	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						TATGGACTCTCTGATGAACAG	0.428		NaN											0	0	0	0.00308	0	8	123				
WDR13	64743	broad.mit.edu	37	X	48460204	48460204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:48460204G>A	uc004dkh.1	+	7	1011	c.864G>A	c.(862-864)ATG>ATA	p.M288I	WDR13_uc010nif.1_Missense_Mutation_p.M166I|WDR13_uc004dki.1_Missense_Mutation_p.M196I|WDR13_uc004dkj.1_Missense_Mutation_p.M288I|WDR13_uc004dkk.1_Missense_Mutation_p.M196I|WDR13_uc004dkl.3_Missense_Mutation_p.M196I	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	288						cytoplasm|nucleus				ovary(2)	2						TGCATGTCATGAACATCTCCA	0.602		NaN											0	0	0	0.009096	0	3	32				
USP51	158880	broad.mit.edu	37	X	55514287	55514287	+	Silent	SNP	C	C	G			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:55514287C>G	uc004dun.1	-	2	1165	c.1086G>C	c.(1084-1086)CTG>CTC	p.L362L	USP51_uc011moo.1_Silent_p.L66L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	362					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TTAGCCCTCTCAGGCCTACAG	0.403		NaN											0	0	0	0.020292	0	15	223				
ATRX	546	broad.mit.edu	37	X	76939952	76939952	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:76939952A>T	uc004ecp.3	-	9	1028	c.796T>A	c.(796-798)TAC>AAC	p.Y266N	ATRX_uc004ecq.3_Missense_Mutation_p.Y228N|ATRX_uc004eco.3_Missense_Mutation_p.Y51N|ATRX_uc004ecr.2_Missense_Mutation_p.Y227N|ATRX_uc010nlx.1_Missense_Mutation_p.Y266N|ATRX_uc010nly.1_Missense_Mutation_p.Y211N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	266	ADD.|PHD-type; atypical.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TGACAAATGTAGCAATACCAT	0.388		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.001984	0	7	448				
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:123179197C>T	uc004etz.3	+	7	985	c.646C>T	c.(646-648)CGA>TGA	p.R216*	STAG2_uc004eua.2_Nonsense_Mutation_p.R216*|STAG2_uc004eub.2_Nonsense_Mutation_p.R216*|STAG2_uc004euc.2_Nonsense_Mutation_p.R216*|STAG2_uc004eud.2_Nonsense_Mutation_p.R216*|STAG2_uc004eue.2_Nonsense_Mutation_p.R216*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CAGAGCATTTCGACATACAAG	0.343		NaN											0	0	0	0.010504	0	20	335		Valid		
F8	2157	broad.mit.edu	37	X	154197729	154197729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:154197729G>A	uc004fmt.2	-	7	1057	c.886C>T	c.(886-888)CTT>TTT	p.L296F		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	296	Plastocyanin-like 2.|F5/8 type A 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCTCACAAGAAATGTGTGA	0.463		NaN											0	0	0	0.028581	0	12	195				
PANK4	55229	broad.mit.edu	37	1	2440291	2440291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:2440291C>T	uc001ajm.1	-	19	2326	c.2317G>A	c.(2317-2319)GAG>AAG	p.E773K	PANK4_uc010nza.1_Missense_Mutation_p.E734K	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	773					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGCCTCACTCGGCTGGGACC	0.567		NaN											0	0	0	0.00632	0	23	18				
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:24419480C>T	uc001bin.3	-	10	1210	c.1047G>A	c.(1045-1047)TCG>TCA	p.S349S	MYOM3_uc001bim.3_Silent_p.S6S|MYOM3_uc001bio.2_Silent_p.S349S|MYOM3_uc001bip.1_Silent_p.S6S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	349	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.458		NaN											0	0	0	0.01892	0	25	22				
GPN2	54707	broad.mit.edu	37	1	27210712	27210712	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:27210712C>G	uc001bnd.1	-	4	1081	c.799G>C	c.(799-801)GAG>CAG	p.E267Q		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	267							GTP binding				0						CTTCGCTGCTCTTGGGCTCTG	0.537		NaN											0	0	0	0.00632	0	29	34				
EBNA1BP2	10969	broad.mit.edu	37	1	43630462	43630462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:43630462C>T	uc001cin.2	-	8	919	c.722G>A	c.(721-723)CGA>CAA	p.R241Q	EBNA1BP2_uc001cio.2_Missense_Mutation_p.R296Q|EBNA1BP2_uc001cim.2_Missense_Mutation_p.R136Q|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.R296Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	241					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTATACCGTCGTTTAGCACT	0.468		NaN											0	0	0	0.00499	0	17	100				
NBPF9	400818	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:144220807A>C	uc010oxr.1	+	19	2184	c.2180A>C	c.(2179-2181)GAT>GCT	p.D727A	NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	700	NBPF 5.					cytoplasm					0						GAGCTGCTGGATGAGAAAGAG	0.483		NaN											0	0	0	0.021523	0	21	120				
C1orf54	79630	broad.mit.edu	37	1	150248969	150248969	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:150248969A>G	uc001eud.2	+	4	267	c.229A>G	c.(229-231)ACC>GCC	p.T77A	C1orf54_uc001euc.2_Missense_Mutation_p.T77A|C1orf54_uc001eue.2_Missense_Mutation_p.T77A|C1orf54_uc001euf.2_Missense_Mutation_p.T77A|C1orf54_uc001eug.2_Missense_Mutation_p.T77A	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	77						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATAGAGACTACCATTAGTCT	0.453		NaN											0	0	0	0.007835	0	39	57				
RORC	6097	broad.mit.edu	37	1	151785462	151785462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:151785462C>T	uc001ezh.2	-	9	1354	c.1246G>A	c.(1246-1248)GAG>AAG	p.E416K	RORC_uc001ezg.2_Missense_Mutation_p.E395K|RORC_uc010pdo.1_Missense_Mutation_p.E470K|RORC_uc010pdp.1_Missense_Mutation_p.E404K	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	416	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCAATCTCATCCTCGGAA	0.517		NaN											0	0	0	0.00632	0	28	50				
RUSC1	23623	broad.mit.edu	37	1	155292628	155292628	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:155292628C>T	uc001fkj.2	+	2	1293	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S355L|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	355						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCCCCCCCTCGGGGTCGCCG	0.701		NaN											0	0	0	0.01441	0	52	47				
TMCC2	9911	broad.mit.edu	37	1	205240950	205240950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:205240950G>T	uc001hbz.1	+	6	2272	c.1828G>T	c.(1828-1830)GAG>TAG	p.E610*	TMCC2_uc010prf.1_Nonsense_Mutation_p.E532*|TMCC2_uc001hca.2_Nonsense_Mutation_p.E385*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.E370*|TMCC2_uc001hcc.1_Nonsense_Mutation_p.E231*|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	610	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGCCGTGGAGTCCTGCCT	0.647		NaN											1	0	7.81431e-29	0.01441	8.2185e-29	80	94				
LYST	1130	broad.mit.edu	37	1	235966211	235966211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:235966211C>T	uc001hxj.2	-	8	3884	c.3709G>A	c.(3709-3711)GAT>AAT	p.D1237N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D1237N	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1237					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTACCATCATCCTGGGTT	0.313		NaN							Chediak-Higashi_syndrome				0	0	0	0.014758	0	4	35				
AHCTF1	25909	broad.mit.edu	37	1	247057966	247057966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:247057966C>G	uc001ibu.1	-	13	1806	c.1799G>C	c.(1798-1800)AGA>ACA	p.R600T	AHCTF1_uc001ibv.1_Missense_Mutation_p.R609T|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	600	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTACATAGTCTGTCAAATTC	0.303		NaN											0	0	0	0.021523	0	21	22				
KIAA1217	56243	broad.mit.edu	37	10	24810779	24810779	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:24810779C>T	uc001iru.3	+	12	2780	c.2377C>T	c.(2377-2379)CTG>TTG	p.L793L	KIAA1217_uc001irs.2_Silent_p.L713L|KIAA1217_uc001irt.3_Silent_p.L758L|KIAA1217_uc010qcy.1_Silent_p.L758L|KIAA1217_uc010qcz.1_Silent_p.L758L|KIAA1217_uc001irv.1_Silent_p.L608L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.L476L|KIAA1217_uc001irz.2_Silent_p.L476L|KIAA1217_uc001irx.2_Silent_p.L476L|KIAA1217_uc001iry.2_Silent_p.L476L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	793					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CGTGCGGTTTCTGAAGGAGGA	0.577		NaN											0	0	0	0.013114	0	39	62				
PTCHD3	374308	broad.mit.edu	37	10	27702774	27702774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:27702774C>T	uc001itu.2	-	1	524	c.406G>A	c.(406-408)GCG>ACG	p.A136T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CAGGGGTGCGCGCCCACCTGC	0.667		NaN											0	0	0	0.01441	0	56	56				
PDZD8	118987	broad.mit.edu	37	10	119043793	119043793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:119043793C>A	uc001lde.1	-	5	2650	c.2451G>T	c.(2449-2451)TTG>TTT	p.L817F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	817					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCTTCAACCAAATGGGGTT	0.368		NaN											1	0	0.00909568	0.009096	0.00919618	4	63				
DMBT1	1755	broad.mit.edu	37	10	124339372	124339372	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:124339372A>T	uc001lgk.1	+	10	1064	c.958A>T	c.(958-960)ACC>TCC	p.T320S	DMBT1_uc001lgl.1_Missense_Mutation_p.T320S|DMBT1_uc001lgm.1_Missense_Mutation_p.T320S|DMBT1_uc009xzz.1_Missense_Mutation_p.T320S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.T172S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	320	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCACCCACAACTG	0.572		NaN											0	0	0	0.027894	0	34	89				
CHRNA10	57053	broad.mit.edu	37	11	3688596	3688596	+	Missense_Mutation	SNP	G	G	A	rs140976405		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:3688596G>A	uc001lyf.2	-	4	833	c.761C>T	c.(760-762)GCG>GTG	p.A254V	CHRNA10_uc010qxt.1_Missense_Mutation_p.A48V|CHRNA10_uc010qxu.1_Missense_Mutation_p.A48V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	254	Helical; (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGCGAGCGGCGCAAGCAGCGA	0.697		NaN											0	0	0	0.010818	0	30	30				
MICAL2	9645	broad.mit.edu	37	11	12234924	12234924	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:12234924C>G	uc001mjz.2	+	7	1102	c.814C>G	c.(814-816)CAG>GAG	p.Q272E	MICAL2_uc010rch.1_Missense_Mutation_p.Q272E|MICAL2_uc001mka.2_Missense_Mutation_p.Q272E|MICAL2_uc010rci.1_Missense_Mutation_p.Q272E|MICAL2_uc001mkb.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkc.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkd.2_Missense_Mutation_p.Q101E|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	272						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CATCTTCAATCAGAAATTTTT	0.463		NaN											0	0	0	0.01441	0	76	125				
INTS5	80789	broad.mit.edu	37	11	62415960	62415961	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:62415960_62415961TC>AT	uc001nud.2	-	2	1644_1645	c.1591_1592GA>AT	c.(1591-1593)GAG>ATG	p.E531M	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	531					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CAAACTCAACTCTTCAGGGCTT	0.624		NaN											0	0	0	0.004672	0	112	140				
AMOTL1	154810	broad.mit.edu	37	11	94599320	94599320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:94599320G>A	uc001pfb.2	+	11	2645	c.2475G>A	c.(2473-2475)TGG>TGA	p.W825*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.W775*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	825						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGAAGACCTGGAAGGGGAGCA	0.458		NaN											0	0	0	0.008871	0	20	25				
MMP3	4314	broad.mit.edu	37	11	102709926	102709926	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:102709926C>T	uc001phj.1	-	7	1049	c.984G>A	c.(982-984)TTG>TTA	p.L328L		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	328	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATGAAGAGATCAAATGCAATT	0.358		NaN											0	0	0	0.01441	0	50	70				
ATM	472	broad.mit.edu	37	11	108117799	108117799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:108117799G>A	uc001pkb.1	+	8	1395	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H	ATM_uc009yxr.1_Missense_Mutation_p.R337H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGGATTTCGTAATATTGCC	0.323		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.024334	0	25	32		Valid		
VPS26B	112936	broad.mit.edu	37	11	134114848	134114848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:134114848C>G	uc001qhe.2	+	5	1194	c.738C>G	c.(736-738)ATC>ATG	p.I246M		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	246					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCATCCCGATCCGGCTCTTCC	0.582		NaN									OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009718	0	37	67				
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:1940449C>T	uc001qjt.2	+	4	1222	c.416C>T	c.(415-417)TCG>TTG	p.S139L	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139	Extracellular (Potential).|LRR 3.					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652		NaN											0	0	0	0.01441	0	96	100				
DNM1L	10059	broad.mit.edu	37	12	32873665	32873665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:32873665C>T	uc001rld.2	+	8	969	c.808C>T	c.(808-810)CAA>TAA	p.Q270*	DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Nonsense_Mutation_p.Q270*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.Q270*|DNM1L_uc010skh.1_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.Q323*|DNM1L_uc010ski.1_Nonsense_Mutation_p.Q67*	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	270	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTTTTCTTCAAAAGAAATA	0.348		NaN											0	0	0	0.009535	0	31	53				
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:56478817G>A	uc001sjh.2	+	3	466	c.273G>A	c.(271-273)ATG>ATA	p.M91I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	91	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473		NaN											0	0	0	0.01441	0	57	107		Valid		
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:113385903C>T	uc001tug.2	+	5	1115	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	343	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TGGAAGGGGCCGGTAAGTGAG	0.567		NaN											0	0	0	0.010504	0	18	32				
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:25283562C>T	uc001upp.2	+	18	2741	c.2554C>T	c.(2554-2556)CGC>TGC	p.R852C	ATP12A_uc010aaa.2_Missense_Mutation_p.R858C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	852	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGAAGCCTCGCCACAAGAA	0.557		NaN											0	0	0	0.015359	0	34	37				
BRCA2	675	broad.mit.edu	37	13	32910686	32910686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:32910686G>C	uc001uub.1	+	11	2421	c.2194G>C	c.(2194-2196)GAG>CAG	p.E732Q		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	732	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAAAAGAAGAGGTCTTGGC	0.373		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.027356	0	26	29				
TRPC4	7223	broad.mit.edu	37	13	38211379	38211379	+	Missense_Mutation	SNP	G	G	T	rs146885289		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:38211379G>T	uc001uws.2	-	11	2830	c.2595C>A	c.(2593-2595)TTC>TTA	p.F865L	TRPC4_uc010abv.2_Missense_Mutation_p.F445L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F692L|TRPC4_uc010abx.2_Missense_Mutation_p.F870L|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	865	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.F865F(1)		ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAACAGAGAAGATTTGGT	0.413		NaN											1	0	5.18039e-06	0.00308	5.29615e-06	7	79				
THSD1	55901	broad.mit.edu	37	13	52952331	52952331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952331G>A	uc001vgo.2	-	5	2319	c.1774C>T	c.(1774-1776)CCG>TCG	p.P592S	THSD1_uc001vgp.2_Missense_Mutation_p.P539S|THSD1_uc010tgz.1_Missense_Mutation_p.P213S|THSD1_uc010aea.2_Missense_Mutation_p.P53S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	592	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCTGCTCCGGAAATGGGGAT	0.582		NaN											0	0	0	0.01441	0	68	83				
THSD1	55901	broad.mit.edu	37	13	52952573	52952573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952573G>C	uc001vgo.2	-	5	2077	c.1532C>G	c.(1531-1533)TCT>TGT	p.S511C	THSD1_uc001vgp.2_Missense_Mutation_p.S458C|THSD1_uc010tgz.1_Missense_Mutation_p.S132C|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	511	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCGCTGCCAGAGGCATCATC	0.602		NaN											0	0	0	0.01441	0	66	100				
THSD1	55901	broad.mit.edu	37	13	52952895	52952895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952895G>A	uc001vgo.2	-	5	1755	c.1210C>T	c.(1210-1212)CAG>TAG	p.Q404*	THSD1_uc001vgp.2_Nonsense_Mutation_p.Q351*|THSD1_uc010tgz.1_Nonsense_Mutation_p.Q25*|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	404	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCCTGGGGCTGAAGAGGAGAT	0.393		NaN											0	0	0	0.027356	0	26	46				
DACH1	1602	broad.mit.edu	37	13	72147065	72147065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:72147065C>T	uc010thn.1	-	5	1629	c.1206G>A	c.(1204-1206)ATG>ATA	p.M402I	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	454					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATCTGGCTCATTGCCATGG	0.453		NaN											0	0	0	0.010818	0	33	47				
CHD8	57680	broad.mit.edu	37	14	21894345	21894345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:21894345G>C	uc001was.1	-	5	915	c.821C>G	c.(820-822)TCA>TGA	p.S274*	CHD8_uc001war.1_Nonsense_Mutation_p.S170*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	553					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCACATCTGAATTATCAGA	0.373		NaN											0	0	0	0.024245	0	15	16				
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:24506961C>G	uc010alc.2	+	2	138	c.138C>G	c.(136-138)TTC>TTG	p.F46L	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	46	NADP (By similarity).						binding|oxidoreductase activity				0						GGATCGGCTTCGCCGTCGCCC	0.458		NaN											0	0	0	0.008291	0	9	64				
C14orf182	283551	broad.mit.edu	37	14	50472404	50472404	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:50472404C>T	uc001wxi.1	-	1	1835	c.114G>A	c.(112-114)CCG>CCA	p.P38P		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	38											0						AAAGACCTCTCGGTTCGTGAA	0.537		NaN											0	0	0	0.01441	0	140	180				
KIAA0284	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:105361169A>C	uc010axb.2	+	19	4763	c.4539A>C	c.(4537-4539)TCA>TCC	p.S1513S	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.S1443S|KIAA0284_uc001yps.2_Silent_p.S1454S|KIAA0284_uc001ypt.2_Silent_p.S181S	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1548						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCACCCTCACCCGCCTCAG	0.711		NaN											0	0	0	0.021523	0	7	24				
DUOX2	50506	broad.mit.edu	37	15	45399061	45399061	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:45399061G>A	uc010bea.2	-	15	2003	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I	DUOX2_uc001zun.2_Silent_p.I600I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	600	Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAATGATGGTGATGGCAAAAC	0.597		NaN											0	0	0	0.001984	0	7	11				
RPP25	54913	broad.mit.edu	37	15	75248616	75248616	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:75248616G>C	uc002azj.1	-	1	1160	c.309C>G	c.(307-309)CGC>CGG	p.R103R		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	ribonuclease P 25kDa subunit	103					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding				0						GCCACACCTCGCGTACGCTCC	0.716		NaN											0	0	0	0.00308	0	7	18				
RHOT2	89941	broad.mit.edu	37	16	723543	723543	+	Silent	SNP	C	C	T	rs140204401		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:723543C>T	uc002cip.2	+	19	1861	c.1794C>T	c.(1792-1794)GTC>GTT	p.V598V	RHOT2_uc002ciq.2_Silent_p.V491V|RHOT2_uc010bqy.2_Silent_p.V377V|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	598	Miro 2.|Helical; Anchor for type IV membrane protein; (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				TGGGGGTTGTCGGGGCCGCCG	0.627		NaN											0	0	0	0.01441	0	127	144				
MRPS34	65993	broad.mit.edu	37	16	1822511	1822511	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:1822511T>C	uc002cmo.2	-	3	388	c.368A>G	c.(367-369)AAG>AGG	p.K123R	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'UTR|MRPS34_uc002cmp.1_Missense_Mutation_p.K130R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	123						mitochondrion|ribosome	protein binding			skin(2)	2						GCTCTCAGTCTTCCCTGATGA	0.627		NaN											0	0	0	0.020292	0	12	321				
RPS2	6187	broad.mit.edu	37	16	2012571	2012571	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:2012571C>T	uc002cnn.2	-	5	824	c.636G>A	c.(634-636)AAG>AAA	p.K212K	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.K154K|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.K212K|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	212					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome				0						TCATGAGCAGCTTCTTAGGCA	0.632		NaN											0	0	0	0.01441	0	44	53				
PAQR4	124222	broad.mit.edu	37	16	3021898	3021898	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:3021898C>T	uc002csj.3	+	3	1105	c.771C>T	c.(769-771)GGC>GGT	p.G257G	PAQR4_uc002csk.3_Silent_p.G218G|PAQR4_uc002csl.3_Silent_p.G183G|PAQR4_uc010uwm.1_Silent_p.G188G	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257	Helical; (Potential).					integral to membrane	receptor activity				0						TGCACGCCGGCGTCGTGCCCG	0.672		NaN											0	0	0	0.01441	0	42	64				
TEKT5	146279	broad.mit.edu	37	16	10721530	10721530	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:10721530G>C	uc002czz.1	-	7	1440	c.1368C>G	c.(1366-1368)ATC>ATG	p.I456M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	456					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGTTGGCCTTGATGGCGAGCT	0.647		NaN											0	0	0	0.01441	0	73	83				
HS3ST4	9951	broad.mit.edu	37	16	26146939	26146939	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:26146939G>A	uc002dof.2	+	2	1133	c.741G>A	c.(739-741)GTG>GTA	p.V247V		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	247	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		CTAGAAATGTGATGCCCAAGA	0.423		NaN											0	0	0	0.01892	0	25	30				
PRSS54	221191	broad.mit.edu	37	16	58320015	58320015	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320015G>A	uc002enf.2	-	5	743	c.348C>T	c.(346-348)ATC>ATT	p.I116I	PRSS54_uc002eng.2_Silent_p.I116I|PRSS54_uc010vie.1_Silent_p.I17I	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	116	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTCATGGATGATGATGGTAT	0.458		NaN											0	0	0	0.01441	0	72	111				
PRSS54	221191	broad.mit.edu	37	16	58320044	58320044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320044G>A	uc002enf.2	-	5	714	c.319C>T	c.(319-321)CAC>TAC	p.H107Y	PRSS54_uc002eng.2_Missense_Mutation_p.H107Y|PRSS54_uc010vie.1_Missense_Mutation_p.H8Y	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	107	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TACTCTGTGTGAGCAATCTTG	0.453		NaN											0	0	0	0.01441	0	68	96				
CDH1	999	broad.mit.edu	37	16	68847234	68847234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:68847234G>A	uc002ewg.1	+	9	1280	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	386	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)|p.E386*(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCAGGTGCCTGAGAACGAGGC	0.493		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.01441	0	60	67				
KIAA0664	23277	broad.mit.edu	37	17	2605306	2605306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:2605306C>T	uc002fuy.1	-	4	493	c.407G>A	c.(406-408)CGA>CAA	p.R136Q	KIAA0664_uc002fux.1_Missense_Mutation_p.R68Q	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	136							binding			breast(2)	2						GAGCAGGTCTCGGACATGGCG	0.622		NaN											0	0	0	0.01892	0	25	45				
AIPL1	23746	broad.mit.edu	37	17	6337283	6337283	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:6337283A>G	uc002gcp.2	-	2	327	c.232T>C	c.(232-234)TCC>CCC	p.S78P	AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.S78P|AIPL1_uc010clk.2_Missense_Mutation_p.S56P|AIPL1_uc010cll.2_Missense_Mutation_p.S78P|AIPL1_uc002gcs.2_Missense_Mutation_p.S78P	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	78	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		ACCCGCATGGAGGTAAGCAGG	0.597		NaN											0	0	0	0.020292	0	13	48				
AATF	26574	broad.mit.edu	37	17	35343960	35343960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:35343960C>T	uc002hni.2	+	5	1128	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	293	POLR2J binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				GGTAGGTCTTCAGGAAGAGTT	0.413		NaN											0	0	0	0.021523	0	23	70				
CDC6	990	broad.mit.edu	37	17	38457718	38457718	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:38457718A>G	uc002huj.1	+	11	1663	c.1453_splice	c.e11-2	p.L485_splice		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						GTTTCCTACCAGTTATATGAA	0.453		NaN											0	0	0	0.01441	0	74	113				
RNF213	57674	broad.mit.edu	37	17	78318808	78318808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:78318808C>T	uc002jyh.1	+	4	1115	c.892C>T	c.(892-894)CAG>TAG	p.Q298*		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGAATTATCAGCTCAGAGA	0.498		NaN											0	0	0	0.01441	0	120	141				
PTPN2	5771	broad.mit.edu	37	18	12814236	12814236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:12814236C>T	uc002krp.2	-	7	1018	c.824G>A	c.(823-825)GGA>GAA	p.G275E	PTPN2_uc002krl.2_Missense_Mutation_p.G275E|PTPN2_uc002krn.2_Missense_Mutation_p.G298E|PTPN2_uc002kro.2_Missense_Mutation_p.G275E|PTPN2_uc002krm.2_Missense_Mutation_p.G275E	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	275	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				ACATTTTGCTCCTTCTATTAT	0.323		NaN											0	0	0	0.009096	0	4	51				
INO80C	125476	broad.mit.edu	37	18	33077830	33077830	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:33077830C>T	uc002kyy.3	-	1	126	c.9G>A	c.(7-9)GCG>GCA	p.A3A	INO80C_uc002kyw.1_Silent_p.A3A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A3A	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	3					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						TTGGAATTTGCGCCGCCATCG	0.607		NaN											0	0	0	0.007413	0	15	23				
DOT1L	84444	broad.mit.edu	37	19	2213964	2213964	+	Silent	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2213964C>A	uc002lvb.3	+	18	1812	c.1776C>A	c.(1774-1776)CTC>CTA	p.L592L	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	592						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCGCGCTCCGCGGCCAGA	0.672		NaN											1	0	3.00063e-23	0.01441	3.11997e-23	59	61				
DOT1L	84444	broad.mit.edu	37	19	2222507	2222507	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2222507C>T	uc002lvb.3	+	24	3375	c.3339C>T	c.(3337-3339)GTC>GTT	p.V1113V	DOT1L_uc002lvc.1_Silent_p.V407V|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1113						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCCGTCGCTGGCCTTT	0.687		NaN											0	0	0	0.010771	0	37	40				
TJP3	27134	broad.mit.edu	37	19	3747941	3747941	+	Silent	SNP	C	C	T	rs142779832		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:3747941C>T	uc010xhv.1	+	18	2571	c.2571C>T	c.(2569-2571)GAC>GAT	p.D857D	TJP3_uc010xhs.1_Silent_p.D824D|TJP3_uc010xht.1_Silent_p.D788D|TJP3_uc010xhu.1_Silent_p.D833D|TJP3_uc010xhw.1_Silent_p.D843D	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	838						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACACAGACGGCGAGGGGG	0.697		NaN											0	0	0	0.010818	0	31	60				
HDGFRP2	84717	broad.mit.edu	37	19	4501319	4501319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:4501319G>A	uc002mao.2	+	16	1999	c.1906G>A	c.(1906-1908)GAC>AAC	p.D636N	HDGFRP2_uc002map.2_Missense_Mutation_p.D636N|HDGFRP2_uc010dua.2_Intron|HDGFRP2_uc002maq.1_Missense_Mutation_p.D106N	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	636					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CTCCTCTGAAGACCTGCACGA	0.672		NaN											0	0	0	0.01441	0	50	81				
RFX2	5990	broad.mit.edu	37	19	6007099	6007099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6007099C>T	uc002meb.2	-	12	1595	c.1326G>A	c.(1324-1326)TGG>TGA	p.W442*	RFX2_uc002mec.2_Nonsense_Mutation_p.W417*|RFX2_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGCTCCTCATCCACCTGAGGA	0.657		NaN											0	0	0	0.01441	0	67	98				
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6735965C>G	uc002mfp.2	-	3	291	c.245G>C	c.(244-246)GGG>GCG	p.G82A	GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	82						integral to membrane					0						GAGACTGAACCCCACCTGGTG	0.552		NaN									OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.028581	0	14	47				
MUC16	94025	broad.mit.edu	37	19	9076763	9076763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:9076763C>T	uc002mkp.2	-	3	10887	c.10683G>A	c.(10681-10683)ATG>ATA	p.M3561I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3562	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCATGGTACTCATACCCACTT	0.542		NaN									OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	0	0	0	0.024245	0	14	143				
ICAM5	7087	broad.mit.edu	37	19	10403332	10403332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:10403332G>A	uc002mnu.3	+	5	1071	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	ICAM5_uc002mnv.3_Missense_Mutation_p.E211K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	336	Extracellular (Potential).				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAGCGTCTCCGAGGGGCAGAT	0.657		NaN											0	0	0	0.017118	0	36	55				
EPS15L1	58513	broad.mit.edu	37	19	16532171	16532171	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:16532171G>A	uc002ndz.1	-	10	915	c.909C>T	c.(907-909)TTC>TTT	p.F303F	EPS15L1_uc002ndx.2_Silent_p.F303F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F193F|EPS15L1_uc010xpf.1_Silent_p.F206F|EPS15L1_uc002nea.1_Silent_p.F303F|EPS15L1_uc010eah.1_Silent_p.F303F|EPS15L1_uc002neb.1_Silent_p.F149F|EPS15L1_uc002nec.1_Silent_p.F303F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	303	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CCGAGTGCATGAAGATCTCCT	0.577		NaN											0	0	0	0.01441	0	48	43				
FCHO1	23149	broad.mit.edu	37	19	17897393	17897393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:17897393G>A	uc010ebb.2	+	26	2626	c.2437G>A	c.(2437-2439)GAG>AAG	p.E813K	FCHO1_uc002nhg.3_Missense_Mutation_p.E813K|FCHO1_uc002nhh.2_Missense_Mutation_p.E813K|FCHO1_uc010xpw.1_Missense_Mutation_p.E763K|FCHO1_uc002nhi.2_Missense_Mutation_p.E269K|FCHO1_uc002nhj.2_Missense_Mutation_p.E157K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	813										breast(1)	1						GAACCTGGAGGAGAAGCGGCT	0.493		NaN											0	0	0	0.00499	0	17	25				
ZNF155	7711	broad.mit.edu	37	19	44501575	44501575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:44501575G>C	uc002oxy.1	+	5	1771	c.1566G>C	c.(1564-1566)AAG>AAC	p.K522N	ZNF155_uc002oxz.1_Missense_Mutation_p.K522N|ZNF155_uc010xwt.1_Missense_Mutation_p.K533N|uc010ejc.1_RNA	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	522						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GACGCTACAAGAGGCGCTTGA	0.303		NaN											0	0	0	0.023175	0	38	68				
RPL18	6141	broad.mit.edu	37	19	49119427	49119427	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:49119427G>A	uc002pjq.1	-	5	363	c.330C>T	c.(328-330)CGC>CGT	p.R110R	FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.R58R|RPL18_uc010xzs.1_3'UTR	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GGATGCGGCTGCGGGCCCGGC	0.667		NaN											0	0	0	0.01441	0	76	86				
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54403679C>T	uc002qcq.1	+	13	1662	c.1380C>T	c.(1378-1380)TAC>TAT	p.Y460Y	PRKCG_uc010yeg.1_Silent_p.Y460Y|PRKCG_uc010yeh.1_Silent_p.Y347Y	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGGTTCTACGCGGCAGAAA	0.597		NaN											0	0	0	0.00632	0	25	92				
HSPBP1	23640	broad.mit.edu	37	19	55773977	55773977	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:55773977C>G	uc002qjx.2	-	7	1327	c.1217G>C	c.(1216-1218)TGA>TCA	p.*406S	HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360S	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	406					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTGGTTTCACCGATCCAT	0.622		NaN											0	0	0	0.024245	0	14	21				
ZNF667	63934	broad.mit.edu	37	19	56969551	56969551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:56969551C>A	uc002qnd.2	-	4	388	c.226G>T	c.(226-228)GAG>TAG	p.E76*	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Nonsense_Mutation_p.E76*|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACTGGCTCTACCATCCAG	0.368		NaN											1	0	6.49762e-13	0.006122	6.68014e-13	18	40				
ZNF548	147694	broad.mit.edu	37	19	57910375	57910375	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:57910375C>T	uc002qom.2	+	3	970	c.720C>T	c.(718-720)TTC>TTT	p.F240F	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F243F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	240	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCAATTTCATGAAACATC	0.393		NaN											0	0	0	0.014323	0	23	37				
EMILIN1	11117	broad.mit.edu	37	2	27301966	27301966	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27301966C>G	uc002rii.3	+	1	461	c.33C>G	c.(31-33)CTC>CTG	p.L11L	EMILIN1_uc010eyq.1_Silent_p.L11L	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	11					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACCTCTGCTGCCTGC	0.726		NaN											0	0	0	0.010504	0	15	15				
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27302012C>G	uc002rii.3	+	1	507	c.79C>G	c.(79-81)CGA>GGA	p.R27G	EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	27					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716		NaN											0	0	0	0.006122	0	16	14				
REEP1	65055	broad.mit.edu	37	2	86459784	86459784	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:86459784T>A	uc002srh.3	-	6	703	c.559A>T	c.(559-561)ATG>TTG	p.M187L	REEP1_uc010ytg.1_Missense_Mutation_p.M166L|REEP1_uc010yth.1_Missense_Mutation_p.M160L|REEP1_uc010yti.1_Missense_Mutation_p.R108S	NM_022912	NP_075063	Q9H902	REEP1_HUMAN	receptor accessory protein 1 isoform 2	187					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding				0						CTCCTGGACATCTTAGGCTGG	0.647		NaN											0	0	0	0.027356	0	25	31				
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:110015235C>T	uc010ywt.1	+	4	1135	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding			ovary(1)	1						CACCAAGAAACGCCACTCCTT	0.597		NaN											0	0	0	0.024245	0	16	40				
CCDC93	54520	broad.mit.edu	37	2	118731529	118731529	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:118731529G>C	uc002tlj.2	-	11	969	c.843C>G	c.(841-843)CTC>CTG	p.L281L	CCDC93_uc010fld.1_Silent_p.L281L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	281	Potential.									large_intestine(1)|ovary(1)	2						CAGCAGAGCAGAGTCCCACAA	0.542		NaN											0	0	0	0.016723	0	11	17				
UBXN4	23190	broad.mit.edu	37	2	136519444	136519444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:136519444C>T	uc002tur.2	+	6	876	c.565C>T	c.(565-567)CAG>TAG	p.Q189*	UBXN4_uc002tus.2_Intron	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	189	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						ATGCTCAGATCAGAGACCTGC	0.388		NaN											0	0	0	0.016522	0	19	26				
FAP	2191	broad.mit.edu	37	2	163029727	163029727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:163029727G>C	uc002ucd.2	-	24	2247	c.2039C>G	c.(2038-2040)TCA>TGA	p.S680*	FAP_uc010fpc.2_Nonsense_Mutation_p.S229*|FAP_uc010zct.1_Nonsense_Mutation_p.S655*|FAP_uc010fpd.2_Nonsense_Mutation_p.S159*	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	680	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						CATCACAGTTGAATTCTGGAA	0.348		NaN											0	0	0	0.019004	0	34	55				
UBR3	130507	broad.mit.edu	37	2	170917627	170917627	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:170917627G>A	uc010zdi.1	+	34	4824	c.4824G>A	c.(4822-4824)CTG>CTA	p.L1608L	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.L429L|UBR3_uc002uft.3_Silent_p.L465L|UBR3_uc010zdj.1_Silent_p.L299L|UBR3_uc002ufu.3_Silent_p.L114L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1608					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AAGTATTACTGAGCTTTGTGA	0.318		NaN											0	0	0	0.004482	0	8	90				
CENPB	1059	broad.mit.edu	37	20	3765860	3765860	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:3765860T>A	uc002wjk.2	-	1	1478	c.1271A>T	c.(1270-1272)GAA>GTA	p.E424V	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	424	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						ctcctcctcttcctctccttc	0.139		NaN											0	0	0	0.00499	0	18	37				
CHD6	84181	broad.mit.edu	37	20	40049283	40049283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:40049283C>G	uc002xka.1	-	31	6170	c.5992G>C	c.(5992-5994)GAA>CAA	p.E1998Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1998					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCCAAGGTTCTTTTAAAAGC	0.418		NaN											0	0	0	0.01441	0	57	75				
PCIF1	63935	broad.mit.edu	37	20	44569785	44569786	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44569785_44569786CC>GT	uc002xqs.2	+	7	926_927	c.612_613CC>GT	c.(610-615)CTCCGC>CTGTGC	p.R205C		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	205						nucleus				skin(1)	1						TGGAACTGCTCCGCTCTCAGCT	0.614		NaN											0	0	0	0.004672	0	67	97				
CDH22	64405	broad.mit.edu	37	20	44815269	44815269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44815269C>T	uc002xrm.2	-	9	2022	c.1621G>A	c.(1621-1623)GAA>AAA	p.E541K	CDH22_uc010ghk.1_Missense_Mutation_p.E541K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	541	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTGGGAGCTTCAGGCACCAGG	0.592		NaN											0	0	0	0.01441	0	60	67				
C20orf43	51507	broad.mit.edu	37	20	55049783	55049784	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:55049783_55049784GA>AT	uc002xxt.2	+	3	321_322	c.214_215GA>AT	c.(214-216)GAA>ATA	p.E72I	C20orf43_uc010zzf.1_Missense_Mutation_p.E102I|C20orf43_uc002xxu.2_Missense_Mutation_p.E72I|C20orf43_uc002xxv.2_Missense_Mutation_p.E72I	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	72										ovary(1)	1			Colorectal(105;0.202)			CAAATCTGCAGAAAAGGCTCTT	0.381		NaN											0	0	0	0.004672	0	52	93				
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:37833619G>A	uc002yvk.1	-	2	517	c.375C>T	c.(373-375)TTC>TTT	p.F125F	CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	125	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CGGCCAGGATGAAGAGGGTGC	0.647		NaN											0	0	0	0.01441	0	78	146				
HLCS	3141	broad.mit.edu	37	21	38126600	38126600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:38126600C>T	uc010gnb.2	-	11	3329	c.2128G>A	c.(2128-2130)GAC>AAC	p.D710N	HLCS_uc002yvs.2_Missense_Mutation_p.D710N	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	710					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAGTTGCCGTCCGGGTGCACA	0.637		NaN											0	0	0	0.00308	0	8	41				
DNMT3L	29947	broad.mit.edu	37	21	45681066	45681066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:45681066G>C	uc002zeg.1	-	2	561	c.77C>G	c.(76-78)TCA>TGA	p.S26*	DNMT3L_uc002zeh.1_Nonsense_Mutation_p.S26*	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	26					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACGGAGCTTGAGAGCTCACT	0.597		NaN											0	0	0	0.01441	0	108	148				
MYH9	4627	broad.mit.edu	37	22	36708249	36708249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:36708249G>C	uc003apg.2	-	14	1804	c.1573C>G	c.(1573-1575)CTG>GTG	p.L525V	MYH9_uc003aph.1_Missense_Mutation_p.L389V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	525	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCAGGGCCAGAATGCCCGGG	0.637		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.024245	0	12	138				
SAMM50	25813	broad.mit.edu	37	22	44364695	44364695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:44364695C>T	uc003bej.2	+	4	516	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	SAMM50_uc011aqd.1_5'UTR	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	107					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACACATGTCAAGGTACATA	0.408		NaN											0	0	0	0.00499	0	16	83				
CAND2	23066	broad.mit.edu	37	3	12858614	12858614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:12858614C>T	uc003bxk.2	+	10	2232	c.2183C>T	c.(2182-2184)TCT>TTT	p.S728F	CAND2_uc003bxj.2_Missense_Mutation_p.S635F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CAGCCAGCCTCTTTGGTGGAG	0.652		NaN											0	0	0	0.01441	0	65	81				
CBLB	868	broad.mit.edu	37	3	105400433	105400433	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:105400433G>C	uc003dwc.2	-	16	2640	c.2318C>G	c.(2317-2319)TCT>TGT	p.S773C	CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Missense_Mutation_p.S773C|CBLB_uc003dwe.1_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	773	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						CACGGGATCAGAGGCTGAATC	0.423		NaN	Mis S		AML								0	0	0	0.025465	0	36	74				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.00632	0	27	24		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	25	6		Valid		
LRPAP1	4043	broad.mit.edu	37	4	3516518	3516518	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:3516518G>A	uc003ghi.2	-	7	1057	c.972C>T	c.(970-972)CAC>CAT	p.H324H		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	324	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCAGCAGGGCGTGCTTCTCGC	0.672		NaN											0	0	0	0.012213	0	21	153				
SH3TC1	54436	broad.mit.edu	37	4	8224616	8224616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:8224616G>A	uc003gkv.3	+	10	1263	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E312K|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	388							binding			large_intestine(2)|pancreas(1)	3						ATTCTTCAGCGAGGGCTGCTT	0.488		NaN											0	0	0	0.023175	0	40	53				
SPATA18	132671	broad.mit.edu	37	4	52945953	52945953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:52945953C>T	uc003gzl.2	+	9	1501	c.1223C>T	c.(1222-1224)CCT>CTT	p.P408L	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.P376L|SPATA18_uc003gzk.1_Missense_Mutation_p.P408L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	408					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTTCATTCCCTCCTGTCGTT	0.438		NaN											0	0	0	0.01441	0	128	159				
FRAS1	80144	broad.mit.edu	37	4	79403578	79403578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:79403578C>G	uc003hlb.2	+	58	9081	c.8641C>G	c.(8641-8643)CCG>GCG	p.P2881A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2876	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CACTCAGTATCCGGTAATTGA	0.453		NaN											0	0	0	0.01441	0	93	130				
EGF	1950	broad.mit.edu	37	4	110866376	110866376	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:110866376G>A	uc003hzy.3	+	5	1337	c.885G>A	c.(883-885)CTG>CTA	p.L295L	EGF_uc011cfu.1_Silent_p.L295L|EGF_uc011cfv.1_Silent_p.L295L	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	295	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGGTGAACTGAAAGTAGTGC	0.458		NaN											0	0	0	0.00499	0	15	19				
SEC24D	9871	broad.mit.edu	37	4	119736285	119736285	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:119736285G>A	uc003ici.3	-	6	971	c.699C>T	c.(697-699)GGC>GGT	p.G233G	SEC24D_uc003icj.3_Silent_p.G234G|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	233	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						ACAGTTGTGCGCCTGCCATCT	0.512		NaN											0	0	0	0.009718	0	45	38				
TBC1D9	23158	broad.mit.edu	37	4	141578845	141578845	+	Silent	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:141578845T>C	uc010ioj.2	-	12	2315	c.2043A>G	c.(2041-2043)CTA>CTG	p.L681L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	681	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGAGAAATAGTGTGAGGA	0.483		NaN											0	0	0	0.01441	0	61	60				
ADAM29	11086	broad.mit.edu	37	4	175898670	175898670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:175898670G>A	uc003iuc.2	+	5	2664	c.1994G>A	c.(1993-1995)GGC>GAC	p.G665D	ADAM29_uc003iud.2_Missense_Mutation_p.G665D|ADAM29_uc010irr.2_Missense_Mutation_p.G665D|ADAM29_uc011cki.1_Missense_Mutation_p.G665D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	665	Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGACAGTGGCCCACCCCCT	0.393		NaN											0	0	0	0.008361	0	29	27				
FAT1	2195	broad.mit.edu	37	4	187541182	187541182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:187541182G>C	uc003izf.2	-	10	6746	c.6558C>G	c.(6556-6558)TTC>TTG	p.F2186L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2186	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTGCACTGTAGAAAGGTTTTT	0.512		NaN								HNSCC(5;0.00058)			0	0	0	0.01441	0	62	72				
EXOC3	11336	broad.mit.edu	37	5	454125	454125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:454125G>C	uc003jba.2	+	4	1133	c.1005G>C	c.(1003-1005)GAG>GAC	p.E335D		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	346					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCCAATGAGATCGTGAGCC	0.542		NaN											0	0	0	0.020292	0	11	19				
PRLR	5618	broad.mit.edu	37	5	35065622	35065622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:35065622C>G	uc003jjm.2	-	10	1968	c.1438G>C	c.(1438-1440)GAA>CAA	p.E480Q	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E379Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	480	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGAAGCTTTCTACCTCCCTC	0.498		NaN											0	0	0	0.01441	0	52	77				
SLCO4C1	353189	broad.mit.edu	37	5	101585389	101585389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:101585389G>A	uc003knm.2	-	9	1860	c.1573C>T	c.(1573-1575)CCC>TCC	p.P525S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	525	Kazal-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAAGCAGGGAGAAAAATAT	0.418		NaN											0	0	0	0.00499	0	18	27				
PCDHA11	56138	broad.mit.edu	37	5	140249093	140249093	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:140249093C>G	uc003lia.2	+	1	1263	c.405C>G	c.(403-405)CTC>CTG	p.L135L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L135L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	135	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTCGCTCAGAGAACAAA	0.517		NaN											0	0	0	0.01441	0	202	261				
ADAM19	8728	broad.mit.edu	37	5	156946865	156946865	+	Silent	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:156946865G>T	uc003lwz.2	-	6	646	c.582C>A	c.(580-582)ACC>ACA	p.T194T	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T125T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	194					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGCTTCTTGGTCTGTTGTG	0.542		NaN											1	0	3.07002e-29	0.01441	3.24747e-29	53	91				
PANK3	79646	broad.mit.edu	37	5	167986163	167986163	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:167986163C>T	uc003lzz.1	-	6	1237	c.937_splice	c.e6-1	p.K313_splice	MIR103-1AS_hsa-mir-103-1-as|MI0007261_5'Flank	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGTTTATTTTCTAAAAGAAAA	0.249		NaN											0	0	0	0.00632	0	29	19				
OR2Y1	134083	broad.mit.edu	37	5	180167034	180167034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:180167034C>G	uc003mmf.1	-	1	25	c.25G>C	c.(25-27)GAA>CAA	p.E9Q		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCATCTTCAAAACTGGTG	0.438		NaN											0	0	0	0.01892	0	23	37				
SERPINB6	5269	broad.mit.edu	37	6	2954877	2954877	+	Missense_Mutation	SNP	C	C	T	rs146252067		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:2954877C>T	uc003muk.2	-	3	2374	c.379G>A	c.(379-381)GTA>ATA	p.V127I	SERPINB6_uc003mui.2_Missense_Mutation_p.V10I|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.V127I|SERPINB6_uc003mum.2_Missense_Mutation_p.V127I|SERPINB6_uc003mun.2_Missense_Mutation_p.V127I|SERPINB6_uc003muo.2_Missense_Mutation_p.V127I	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	127					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTCTCTACGGCGCTGATA	0.393		NaN											0	0	0	0.01441	0	49	74				
GCNT2	2651	broad.mit.edu	37	6	10621627	10621627	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:10621627C>T	uc010joo.2	+	4	1520	c.969C>T	c.(967-969)CTC>CTT	p.L323L	GCNT2_uc010jol.2_Silent_p.L37L|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Silent_p.L322L|GCNT2_uc003mzd.2_Silent_p.L321L|GCNT2_uc003mze.2_Silent_p.L323L	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	323	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGGAAACCTCAGAGCTATAA	0.507		NaN											0	0	0	0.010504	0	18	28				
ZKSCAN3	80317	broad.mit.edu	37	6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:28333766C>T	uc003nle.3	+	6	1537	c.1321C>T	c.(1321-1323)CTC>TTC	p.L441F	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L441F|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.L293F|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441	C2H2-type 5.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AAGTTCACATCTCCTGAGACA	0.498		NaN											0	0	0	0.024334	0	26	35				
DOM3Z	1797	broad.mit.edu	37	6	31938495	31938495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938495C>G	uc003nyo.1	-	3	1234	c.700G>C	c.(700-702)GAG>CAG	p.E234Q	DOM3Z_uc003nyp.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	234		GDP (By similarity).					identical protein binding|metal ion binding|nucleotide binding				0						CAGTCTACCTCCCCTGAGAAG	0.617		NaN											0	0	0	0.01441	0	85	105				
DOM3Z	1797	broad.mit.edu	37	6	31938905	31938905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938905C>G	uc003nyo.1	-	2	910	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	DOM3Z_uc003nyp.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nys.1_Missense_Mutation_p.E126Q|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	126							identical protein binding|metal ion binding|nucleotide binding				0						ACTATGGCCTCTGCCAGCCAG	0.592		NaN											0	0	0	0.01441	0	44	74				
HLA-DRB1	3123	broad.mit.edu	37	6	32551898	32551898	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:32551898C>T	uc003obp.3	-	2	401	c.358G>A	c.(358-360)GTG>ATG	p.V120M	HLA-DRB1_uc011dqa.1_Translation_Start_Site|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_RNA|HLA-DRB1_uc011dqb.1_5'Flank|HLA-DRB1_uc011dqc.1_Translation_Start_Site	NM_002124	NP_002115	P01911	2B1F_HUMAN	major histocompatibility complex, class II, DR	120	Beta-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				skin(1)	1						CGCCGCTGCACTGTGAAGCTC	0.527		NaN							Rheumatoid_Arthritis|Sj_gren_syndrome	Multiple Myeloma(14;0.17)			0	0	0	0.00308	0	7	15				
BAI3	577	broad.mit.edu	37	6	70098735	70098735	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:70098735G>C	uc003pev.3	+	32	4969	c.4521G>C	c.(4519-4521)CTG>CTC	p.L1507L	BAI3_uc010kak.2_Silent_p.L1507L|BAI3_uc011dxx.1_Silent_p.L713L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1507	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGAAGTGTCTGAATTTGCCTC	0.418		NaN											0	0	0	0.009535	0	28	28				
ASF1A	25842	broad.mit.edu	37	6	119221997	119221997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:119221997C>T	uc011ebn.1	+	2	513	c.176C>T	c.(175-177)TCT>TTT	p.S59F		NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN	ASF1 anti-silencing function 1 homolog A	59	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding				0		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTTTTAGACTCTGTTTTAGTG	0.358		NaN											0	0	0	0.01441	0	82	110				
STX11	8676	broad.mit.edu	37	6	144508138	144508138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:144508138C>T	uc003qks.3	+	2	566	c.374C>T	c.(373-375)GCG>GTG	p.A125V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	125				HSAVAR -> ALGSGG (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCGGCAGTGGCGCGCATTTCG	0.672		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.00632	0	28	39				
FBXL18	80028	broad.mit.edu	37	7	5541202	5541202	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:5541202A>G	uc003soo.2	-	3	792	c.698T>C	c.(697-699)TTC>TCC	p.F233S	FBXL18_uc003son.3_Missense_Mutation_p.F233S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	233										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGCGCATAGAAGACCCGCAG	0.642		NaN											0	0	0	0.013537	0	13	87				
SP4	6671	broad.mit.edu	37	7	21550696	21550696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:21550696C>G	uc003sva.2	+	6	2345	c.2164C>G	c.(2164-2166)CTC>GTC	p.L722V	SP4_uc003svb.2_Missense_Mutation_p.L409V	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	722	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						GAGTGATCATCTCTCCAAACA	0.413		NaN											0	0	0	0.019004	0	38	41				
OSBPL3	26031	broad.mit.edu	37	7	24911608	24911608	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:24911608C>T	uc003sxf.2	-	3	582	c.177G>A	c.(175-177)CTG>CTA	p.L59L	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L59L|OSBPL3_uc003sxh.2_Silent_p.L59L|OSBPL3_uc003sxi.2_Silent_p.L59L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	59	PH.				lipid transport		lipid binding|protein binding			skin(1)	1						TCCTCTTTTTCAGCAAAAATC	0.502		NaN											0	0	0	0.008361	0	28	61				
POLM	27434	broad.mit.edu	37	7	44113402	44113402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:44113402G>A	uc003tjt.2	-	9	1386	c.1294C>T	c.(1294-1296)CTC>TTC	p.L432F	POLM_uc003tjw.1_Missense_Mutation_p.L51F|POLM_uc003tju.2_Missense_Mutation_p.L395F|POLM_uc003tjx.2_Missense_Mutation_p.L352F|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.L82F	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	432					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GTCCAACCGAGCAGGGCGAAA	0.657		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.012213	0	31	140				
ASL	435	broad.mit.edu	37	7	65553885	65553885	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:65553885C>T	uc003tuo.2	+	11	921	c.810C>T	c.(808-810)TTC>TTT	p.F270F	ASL_uc003tup.2_Silent_p.F270F|ASL_uc003tur.2_Silent_p.F244F|ASL_uc003tuq.2_Silent_p.F270F	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	270					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	AATTCAGCTTCGTGCAGCTCT	0.617		NaN											0	0	0	0.017118	0	38	41				
AGFG2	3268	broad.mit.edu	37	7	100151029	100151029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:100151029C>T	uc003uvf.2	+	4	627	c.491C>T	c.(490-492)CCT>CTT	p.P164L	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L26L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GCCTCCACCCCTGTGCAGGGC	0.547		NaN											0	0	0	0.01441	0	66	96				
ELP3	55140	broad.mit.edu	37	8	27995406	27995406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:27995406G>C	uc003xgo.3	+	10	1246	c.1098G>C	c.(1096-1098)CAG>CAC	p.Q366H	ELP3_uc003xgn.3_Missense_Mutation_p.Q351H|ELP3_uc011laq.1_Missense_Mutation_p.Q294H|ELP3_uc011lar.1_Missense_Mutation_p.Q274H|ELP3_uc011las.1_Missense_Mutation_p.Q247H|ELP3_uc011lat.1_Missense_Mutation_p.Q247H	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	366					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACCGAGTACAGAGGTAGTGTG	0.408		NaN											0	0	0	0.008291	0	11	13				
CYP7A1	1581	broad.mit.edu	37	8	59404977	59404977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:59404977C>G	uc003xtm.3	-	5	1213	c.1150G>C	c.(1150-1152)GAT>CAT	p.D384H		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	384					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGATGTCATCTTTTCGGATG	0.468		NaN							Neonatal_Giant_Cell_Hepatitis				0	0	0	0.01441	0	52	73				
CNBD1	168975	broad.mit.edu	37	8	87878760	87878760	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:87878760C>G	uc003ydy.2	+	1	85	c.37C>G	c.(37-39)CAC>GAC	p.H13D		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	13										ovary(3)	3						TATTTTGTCTCACATGACAGC	0.443		NaN											0	0	0	0.016723	0	12	13				
TP53INP1	94241	broad.mit.edu	37	8	95953097	95953097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:95953097C>G	uc003yhg.2	-	2	457	c.73G>C	c.(73-75)GAG>CAG	p.E25Q	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E25Q	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	25	Glu-rich.				apoptosis	PML body					0	Breast(36;8.75e-07)					TCTTCTTTCTCATTGAATTCT	0.398		NaN											0	0	0	0.023175	0	37	57				
TG	7038	broad.mit.edu	37	8	134042190	134042190	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:134042190C>T	uc003ytw.2	+	41	7202	c.7161C>T	c.(7159-7161)GGC>GGT	p.G2387G	TG_uc010mdw.2_Silent_p.G1146G|TG_uc011ljb.1_Silent_p.G756G|TG_uc011ljc.1_Silent_p.G520G	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2387					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACCGTGGCGGGGCTGATG	0.647		NaN											0	0	0	0.006214	0	6	50				
MAPK15	225689	broad.mit.edu	37	8	144803972	144803972	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:144803972G>A	uc003yzj.2	+	13	1421	c.1380G>A	c.(1378-1380)GCG>GCA	p.A460A		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	460					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGCTGCGGCTCAGGTGG	0.672		NaN											0	0	0	0.016723	0	14	130				
ZNF16	7564	broad.mit.edu	37	8	146171568	146171568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:146171568C>T	uc003zet.2	-	3	212	c.25G>A	c.(25-27)GAG>AAG	p.E9K	ZNF16_uc003zeu.2_Missense_Mutation_p.E9K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTCCTCACGGCGAGTT	0.592		NaN											0	0	0	0.01441	0	52	57				
CNTLN	54875	broad.mit.edu	37	9	17466028	17466028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:17466028C>T	uc003zmz.2	+	22	3604	c.3578C>T	c.(3577-3579)TCA>TTA	p.S1193L	CNTLN_uc003zmy.2_Missense_Mutation_p.S1194L|CNTLN_uc010mio.2_Missense_Mutation_p.S873L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1194	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TCAATTGATTCACTAAAGCAA	0.299		NaN											0	0	0	0.027356	0	27	6				
ZNF658	26149	broad.mit.edu	37	9	40773179	40773179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:40773179G>C	uc004abs.2	-	5	2248	c.2096C>G	c.(2095-2097)TCA>TGA	p.S699*	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S699*	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	699	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGGGCTGAATTATGGGC	0.408		NaN											0	0	0	0.007835	0	35	145				
GOLGA2	2801	broad.mit.edu	37	9	131019750	131019750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:131019750C>T	uc011maw.1	-	25	2705	c.2692G>A	c.(2692-2694)GAG>AAG	p.E898K	GOLGA2_uc010mxw.2_Missense_Mutation_p.E221K|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	898						Golgi cisterna membrane	protein binding			ovary(1)	1						CCATGCCACTCGTTGCGGTCG	0.662		NaN											0	0	0	0.01441	0	47	7				
SPIN4	139886	broad.mit.edu	37	X	62570437	62570437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:62570437C>G	uc004dvf.2	-	1	782	c.262G>C	c.(262-264)GAA>CAA	p.E88Q		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	88					gamete generation					ovary(1)|lung(1)	2						CGGTGCAGTTCTAGTCCATAC	0.488		NaN											0	0	0	0.001984	0	7	18				
TAF1	6872	broad.mit.edu	37	X	70621446	70621446	+	Silent	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:70621446A>G	uc004dzu.3	+	25	3903	c.3852A>G	c.(3850-3852)CAA>CAG	p.Q1284Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.Q1305Q|TAF1_uc004dzv.3_Silent_p.Q458Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1284					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TCTATTATCAAACAAATGCGC	0.438		NaN											0	0	0	0.028581	0	17	60				
ITM2A	9452	broad.mit.edu	37	X	78616969	78616969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:78616969C>T	uc004edh.2	-	5	895	c.560G>A	c.(559-561)AGA>AAA	p.R187K	ITM2A_uc011mqr.1_Missense_Mutation_p.R143K	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	187	BRICHOS.					integral to membrane	protein binding			lung(2)	2						AGGCAGATATCTGCCACTCTA	0.264		NaN											0	0	0	0.008291	0	11	26				
MCTS1	28985	broad.mit.edu	37	X	119739341	119739341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:119739341G>A	uc004esx.2	+	2	439	c.91G>A	c.(91-93)GAG>AAG	p.E31K	MCTS1_uc011mub.1_Missense_Mutation_p.E32K	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	31					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TCAATTGATAGAGCAATTTCC	0.338		NaN											0	0	0	0.01441	0	75	9				
F8	2157	broad.mit.edu	37	X	154194885	154194885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:154194885C>G	uc004fmt.2	-	8	1258	c.1087G>C	c.(1087-1089)GAA>CAA	p.E363Q		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	363					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATAGTCTTCCGCTTCTTCA	0.413		NaN											0	0	0	0.011902	0	44	6				
DNAJC16	23341	broad.mit.edu	37	1	15870967	15870967	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:15870967C>T	uc001aws.2	+	5	768	c.648C>T	c.(646-648)CCC>CCT	p.P216P	DNAJC16_uc001awr.1_Silent_p.P216P|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	216	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGCACGCCCTCTATCCTAG	0.478		NaN											0	0	0	0.013726	0	33	24				
C1orf64	149563	broad.mit.edu	37	1	16332663	16332663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:16332663C>T	uc001axn.2	+	2	400	c.332C>T	c.(331-333)CCG>CTG	p.P111L		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	hypothetical protein LOC149563	111										breast(2)	2		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACCCTGCCGCTCTGCAGA	0.647		NaN											0	0	0	0.004482	0	8	67				
PLA2G2E	30814	broad.mit.edu	37	1	20246922	20246922	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:20246922G>A	uc001bct.1	-	4	365	c.307C>T	c.(307-309)CGG>TGG	p.R103W		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	103					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTCAGCCGCTGGCAGGTG	0.592		NaN											0	0	0	0.013537	0	11	57				
ARID1A	8289	broad.mit.edu	37	1	27099361	27099361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:27099361C>T	uc001bmv.1	+	14	3971	c.3598C>T	c.(3598-3600)CAG>TAG	p.Q1200*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1199*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1200*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q817*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q46*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1200					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCCACATTCCAGAAGCGGAA	0.458		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.003954	0	27	31		Valid		
BAI2	576	broad.mit.edu	37	1	32205620	32205620	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:32205620C>T	uc001btn.2	-	14	2428	c.2074G>A	c.(2074-2076)GTG>ATG	p.V692M	BAI2_uc010ogo.1_Missense_Mutation_p.V334M|BAI2_uc010ogp.1_Missense_Mutation_p.V625M|BAI2_uc010ogq.1_Missense_Mutation_p.V692M|BAI2_uc001bto.2_Missense_Mutation_p.V692M|BAI2_uc001btq.1_Missense_Mutation_p.V625M|BAI2_uc010ogr.1_Missense_Mutation_p.C501Y	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	692	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGTGCACAGAGCCAGGG	0.587		NaN											0	0	0	0.010729	0	11	54				
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:39340782G>C	uc001cct.1	-	2	1270	c.989C>G	c.(988-990)TCT>TGT	p.S330C	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313		NaN											0	0	0	0.000602	0	5	77				
PTPRF	5792	broad.mit.edu	37	1	44071029	44071029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:44071029C>T	uc001cjr.2	+	18	3644	c.3304C>T	c.(3304-3306)CAC>TAC	p.H1102Y	PTPRF_uc001cjs.2_Missense_Mutation_p.H1093Y|PTPRF_uc001cju.2_Missense_Mutation_p.H480Y|PTPRF_uc009vwt.2_Missense_Mutation_p.H662Y|PTPRF_uc001cjv.2_Missense_Mutation_p.H562Y|PTPRF_uc001cjw.2_Missense_Mutation_p.H328Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1102	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCTCACAAGCCGCT	0.632		NaN											0	0	0	0.008291	0	10	43				
LRRIQ3	127255	broad.mit.edu	37	1	74507499	74507499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:74507499C>A	uc001dfy.3	-	7	1308	c.1116G>T	c.(1114-1116)GAG>GAT	p.E372D	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	372										ovary(2)	2						GTTGTTTTTTCTCTCTCAATA	0.338		NaN											1	0	9.16793e-09	0.00499	1.04934e-08	14	51				
POGZ	23126	broad.mit.edu	37	1	151378506	151378506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:151378506C>T	uc001eyd.1	-	19	3311	c.3005G>A	c.(3004-3006)CGT>CAT	p.R1002H	POGZ_uc001eye.1_Missense_Mutation_p.R949H|POGZ_uc010pdb.1_Missense_Mutation_p.R993H|POGZ_uc001eyf.1_Missense_Mutation_p.R958H|POGZ_uc010pdc.1_Missense_Mutation_p.R940H|POGZ_uc009wmv.1_Missense_Mutation_p.R907H|POGZ_uc010pdd.1_Missense_Mutation_p.R493H	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1002					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGAATACGTCGCTGGGG	0.512		NaN											0	0	0	0.012319	0	22	199				
SPTA1	6708	broad.mit.edu	37	1	158596663	158596663	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158596663G>A	uc001fst.1	-	41	5998	c.5799C>T	c.(5797-5799)TTC>TTT	p.F1933F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1933	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCTTCCAGTTGAATTCCTGAA	0.458		NaN											0	0	0	0.010818	0	27	136				
SPTA1	6708	broad.mit.edu	37	1	158646079	158646079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:158646079C>T	uc001fst.1	-	8	1163	c.964G>A	c.(964-966)GAG>AAG	p.E322K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	322	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GCACATAACTCCTTCACCTTT	0.438		NaN											0	0	0	0.010504	0	19	122				
DHX9	1660	broad.mit.edu	37	1	182841625	182841625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:182841625C>T	uc001gpr.2	+	15	1874	c.1711C>T	c.(1711-1713)CAA>TAA	p.Q571*	DHX9_uc001gps.2_Nonsense_Mutation_p.Q357*	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	571					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TTACCCAGTTCAAGGTAATAT	0.358		NaN											0	0	0	0.00308	0	7	109				
LHX9	56956	broad.mit.edu	37	1	197890578	197890578	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:197890578C>T	uc001guk.1	+	3	959	c.522C>T	c.(520-522)TTC>TTT	p.F174F	LHX9_uc001gui.1_Silent_p.F165F|LHX9_uc001guj.1_Silent_p.F180F	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	174	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCGACCATTTCGGCATGAAGG	0.612		NaN											0	0	0	0.001855	0	12	45				
PTPN14	5784	broad.mit.edu	37	1	214557839	214557839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:214557839C>G	uc001hkk.1	-	13	1630	c.1359G>C	c.(1357-1359)AAG>AAC	p.K453N	PTPN14_uc010pty.1_Missense_Mutation_p.K354N	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	453					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGATCCCCCTCTTCATCTGGC	0.572		NaN											0	0	0	0.010771	0	45	171				
TRIM11	81559	broad.mit.edu	37	1	228589812	228589812	+	Silent	SNP	C	C	T	rs148386528		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:228589812C>T	uc001hss.2	-	2	714	c.459G>A	c.(457-459)GCG>GCA	p.A153A	TRIM11_uc010pvx.1_Silent_p.A153A|TRIM11_uc001hst.1_Silent_p.A153A	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	153	Potential.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				GGAACAGCAACGCATCCTGCA	0.627		NaN											0	0	0	0.009096	0	4	26				
RYR2	6262	broad.mit.edu	37	1	237729962	237729962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237729962G>T	uc001hyl.1	+	28	3430	c.3310G>T	c.(3310-3312)GAA>TAA	p.E1104*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1104	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGTATTTTGAATTTGAGAC	0.567		NaN											1	0	8.24728e-16	0.004656	9.85524e-16	26	124				
RYR2	6262	broad.mit.edu	37	1	237765404	237765404	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:237765404G>C	uc001hyl.1	+	35	4796	c.4676G>C	c.(4675-4677)AGA>ACA	p.R1559T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1559	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTGGGAAGAATAAAGGTA	0.303		NaN											0	0	0	0.000602	0	5	35				
ZNF672	79894	broad.mit.edu	37	1	249142538	249142538	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:249142538C>T	uc001iex.2	+	4	1760	c.1065C>T	c.(1063-1065)AAC>AAT	p.N355N		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	355	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAATCTCAACGTGCATCGGC	0.647		NaN											0	0	0	0.009096	0	4	22				
FAM171A1	221061	broad.mit.edu	37	10	15325934	15325934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:15325934C>T	uc001iob.2	-	2	275	c.268G>A	c.(268-270)GCC>ACC	p.A90T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	90	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TGCTTCGAGGCGGTGACAATC	0.542		NaN											0	0	0	0.010729	0	12	181				
SLC39A12	221074	broad.mit.edu	37	10	18242228	18242228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:18242228C>T	uc001ipo.2	+	2	296	c.23C>T	c.(22-24)TCA>TTA	p.S8L	SLC39A12_uc001ipn.2_Missense_Mutation_p.S8L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S8L|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	8	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						ACAAAGCTCTCAGTATCCTGG	0.502		NaN											0	0	0	0.008291	0	11	200				
RRP12	23223	broad.mit.edu	37	10	99148350	99148350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:99148350G>A	uc001knf.2	-	7	924	c.785C>T	c.(784-786)TCA>TTA	p.S262L	RRP12_uc009xvm.2_Intron|RRP12_uc010qou.1_Missense_Mutation_p.S201L|RRP12_uc009xvn.2_Missense_Mutation_p.S162L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	262						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGAGGACTGAGCATACTCC	0.552		NaN											0	0	0	0.00308	0	8	41				
SFXN2	118980	broad.mit.edu	37	10	104491933	104491933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:104491933C>T	uc001kwb.2	+	8	845	c.679C>T	c.(679-681)CAA>TAA	p.Q227*	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	227					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCATCACCCAAGTAGTTAT	0.532		NaN											0	0	0	0.004878	0	37	71				
ITPRIP	85450	broad.mit.edu	37	10	106075629	106075629	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:106075629G>T	uc001kye.2	-	2	254	c.181C>A	c.(181-183)CGG>AGG	p.R61R	ITPRIP_uc001kyf.2_Silent_p.R61R|ITPRIP_uc001kyg.2_Silent_p.R61R	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	61	Potential.					plasma membrane					0						GCCGCCAGCCGAGCCACCTCC	0.662		NaN											1	0	1.40151e-16	0.010504	1.68536e-16	20	88				
ADD3	120	broad.mit.edu	37	10	111893106	111893106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:111893106G>C	uc001kyt.3	+	16	2165	c.1851G>C	c.(1849-1851)AAG>AAC	p.K617N	ADD3_uc001kys.3_Missense_Mutation_p.K585N|ADD3_uc001kyu.2_Missense_Mutation_p.K617N|ADD3_uc001kyv.2_Missense_Mutation_p.K617N|ADD3_uc001kyw.2_Missense_Mutation_p.K585N|ADD3_uc001kyx.2_Missense_Mutation_p.K190N	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	617						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGTTTTCCAAGAGCTTCATCT	0.393		NaN											0	0	0	0.00245	0	14	90				
FGFR2	2263	broad.mit.edu	37	10	123353267	123353267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr10:123353267C>T	uc010qtk.1	-	2	712	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	FGFR2_uc010qtg.1_Missense_Mutation_p.R22Q|FGFR2_uc010qth.1_Missense_Mutation_p.R22Q|FGFR2_uc010qti.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtj.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtl.1_Missense_Mutation_p.R22Q|FGFR2_uc010qtm.1_Missense_Mutation_p.R22Q|FGFR2_uc001lfl.3_Missense_Mutation_p.R22Q|FGFR2_uc001lfm.2_Missense_Mutation_p.R22Q|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.R41Q|FGFR2_uc010qto.1_Missense_Mutation_p.R41Q|FGFR2_uc001lfo.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtp.1_Missense_Mutation_p.R41Q|FGFR2_uc010qtq.1_Missense_Mutation_p.R41Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	22	Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAAGGAGGGCCGGGCCAGGGA	0.502		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00278	0	21	45				
C11orf2	738	broad.mit.edu	37	11	64875072	64875072	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:64875072G>A	uc001ocr.1	+	3	418	c.378G>A	c.(376-378)AAG>AAA	p.K126K	C11orf2_uc001ocs.1_Silent_p.K2K	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	126	Potential.				lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GGAAGATGAAGAACGATTTCC	0.622		NaN											0	0	0	0.001855	0	13	45				
PELI3	246330	broad.mit.edu	37	11	66241241	66241241	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66241241C>T	uc001oic.3	+	7	849	c.685C>T	c.(685-687)CTG>TTG	p.L229L	PELI3_uc001oib.2_Silent_p.L229L|PELI3_uc001oid.3_Silent_p.L205L|PELI3_uc001oie.3_Silent_p.L80L|PELI3_uc010rpd.1_Silent_p.L70L	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	229						cytosol	protein binding			ovary(1)	1						CCCAGATGGCCTGATGGATGG	0.657		NaN											0	0	0	0.004672	0	3	69				
ACTN3	89	broad.mit.edu	37	11	66330384	66330384	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:66330384G>C	uc001oio.1	+	21	2524	c.2506G>C	c.(2506-2508)GAG>CAG	p.E836Q	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	836					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						TGACACGACTGAGCAAGTTGT	0.602		NaN											0	0	0	0.00308	0	8	109				
ARHGAP20	57569	broad.mit.edu	37	11	110486316	110486316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:110486316G>A	uc001pkz.1	-	6	791	c.506C>T	c.(505-507)TCT>TTT	p.S169F	ARHGAP20_uc001pky.1_Missense_Mutation_p.S146F|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S133F|ARHGAP20_uc001pla.1_Missense_Mutation_p.S133F	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	169	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTGTTCTGGAGAACTGCAATC	0.299		NaN											0	0	0	0.008291	0	9	66				
TMPRSS13	84000	broad.mit.edu	37	11	117789394	117789394	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr11:117789394G>A	uc001prs.1	-	2	274	c.181C>T	c.(181-183)CCA>TCA	p.P61S	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.P61S	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	61	4 X 5 AA repeats of T-P-P-G-R.|1-8.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTACCAGCTGGAGATGCCTGG	0.697		NaN											0	0	0	0.00308	0	7	86				
LRP1	4035	broad.mit.edu	37	12	57597024	57597024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:57597024G>T	uc001snd.2	+	69	11238	c.10772G>T	c.(10771-10773)CGC>CTC	p.R3591L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3591	LDL-receptor class A 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGCGGGGCGCTGGAAATGC	0.672		NaN											1	0	0.00116845	0.001168	0.00126139	6	30				
CPM	1368	broad.mit.edu	37	12	69265567	69265567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:69265567C>T	uc001sup.2	-	4	489	c.428G>A	c.(427-429)GGA>GAA	p.G143E	CPM_uc001sur.2_Missense_Mutation_p.G143E|CPM_uc001suq.2_Missense_Mutation_p.G143E	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	143					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTTTACCTTCCGATGCTGTA	0.463		NaN											0	0	0	0.010504	0	19	100				
KITLG	4254	broad.mit.edu	37	12	88912549	88912550	+	Missense_Mutation	DNP	AC	AC	GA			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:88912549_88912550AC>GA	uc001tav.2	-	4	470_471	c.287_288GT>TC	c.(286-288)AGT>ATC	p.S96I	KITLG_uc009zsn.2_Missense_Mutation_p.S24I|KITLG_uc001taw.2_Missense_Mutation_p.S96I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	96	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						TGGAATAATTACTCAAGCCTTC	0.376		NaN							Testicular_Cancer_Familial_Clustering_of				0	0	0	0.004672	0	15	34				
SCYL2	55681	broad.mit.edu	37	12	100731227	100731227	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:100731227G>A	uc001thn.2	+	17	2138	c.2088G>A	c.(2086-2088)CTG>CTA	p.L696L	SCYL2_uc001thm.1_Silent_p.L696L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	696	Potential.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						CACAGAAGCTGAAAAGCCAGC	0.378		NaN											0	0	0	0.001984	0	7	69				
NCOR2	9612	broad.mit.edu	37	12	124821373	124821373	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr12:124821373G>A	uc010tay.1	-	40	6227	c.6071C>T	c.(6070-6072)TCG>TTG	p.S2024L	NCOR2_uc010taz.1_Missense_Mutation_p.S2008L|NCOR2_uc010tax.1_Missense_Mutation_p.S135L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2025					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCCGAGGCCGAGGCAGGTGG	0.652		NaN											0	0	0	0.006214	0	9	68		Valid		
AKAP11	11215	broad.mit.edu	37	13	42882729	42882729	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:42882729C>T	uc001uys.1	+	9	5432	c.5257C>T	c.(5257-5259)CAT>TAT	p.H1753Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1753	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGTTTTCATCATCTAAG	0.348		NaN											0	0	0	0.008291	0	10	60				
PIBF1	10464	broad.mit.edu	37	13	73539485	73539485	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:73539485G>C	uc001vjc.2	+	15	2212	c.1907G>C	c.(1906-1908)AGA>ACA	p.R636T	PIBF1_uc001vjb.2_Missense_Mutation_p.R636T|PIBF1_uc010aep.2_Missense_Mutation_p.R95T	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	636						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTGCGTCAGAGAGATTCTAAG	0.353		NaN											0	0	0	0.006214	0	9	95				
RBM26	64062	broad.mit.edu	37	13	79945293	79945293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:79945293G>A	uc001vkz.2	-	5	435	c.421C>T	c.(421-423)CGT>TGT	p.R141C	RBM26_uc001vky.2_Missense_Mutation_p.R141C|RBM26_uc001vla.2_Missense_Mutation_p.R141C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	141	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCTCATCACGGCTTCTAAAG	0.338		NaN											0	0	0	0.006214	0	10	118				
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr13:101315270G>T	uc001vou.2	-	4	603	c.443C>A	c.(442-444)GCG>GAG	p.A148E	TMTC4_uc001vot.2_Missense_Mutation_p.A167E|TMTC4_uc010tja.1_Intron	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	148	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGGGACGCCCTGGGGGC	0.602		NaN											1	0	7.48243e-07	0.006214	8.4122e-07	8	147				
DHRS7	51635	broad.mit.edu	37	14	60619882	60619882	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:60619882G>A	uc001xes.2	-	4	592	c.408C>T	c.(406-408)GTC>GTT	p.V136V	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.V86V|DHRS7_uc001xeu.2_Silent_p.V136V	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	136							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACCATTGTTGACCAGAATGT	0.423		NaN											0	0	0	0.013537	0	13	48				
PSEN1	5663	broad.mit.edu	37	14	73664744	73664744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:73664744G>A	uc001xnr.2	+	8	1059	c.775G>A	c.(775-777)GTG>ATG	p.V259M	PSEN1_uc001xnv.2_Missense_Mutation_p.V255M|PSEN1_uc010ark.2_Missense_Mutation_p.V255M|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	259	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCTAGATTTAGTGGCTGTTTT	0.368		NaN											0	0	0	0.009096	0	4	34				
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr14:93125804C>T	uc001yap.2	+	7	2477	c.2325C>T	c.(2323-2325)CTC>CTT	p.L775L	RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582		NaN											0	0	0	0.008291	0	10	108				
HERC1	8925	broad.mit.edu	37	15	63984690	63984690	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:63984690G>C	uc002amp.2	-	31	5898	c.5750C>G	c.(5749-5751)TCA>TGA	p.S1917*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1917					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AATTGCTTTTGAAGATACAAC	0.403		NaN											0	0	0	0.000602	0	5	75				
CLPX	10845	broad.mit.edu	37	15	65447361	65447361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65447361G>A	uc002aom.2	-	11	1442	c.1370C>T	c.(1369-1371)GCA>GTA	p.A457V	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	457					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						AGCAAGGTCTGCAGCAGCTGC	0.408		NaN											0	0	0	0.001855	0	14	58				
DENND4A	10260	broad.mit.edu	37	15	65983668	65983668	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:65983668G>A	uc002aph.2	-	22	3510	c.3132C>T	c.(3130-3132)CTC>CTT	p.L1044L	DENND4A_uc002api.2_Silent_p.L1087L|DENND4A_uc002apj.3_Silent_p.L1044L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TAATTCTATTGAGCATAAATC	0.383		NaN											0	0	0	0.001168	0	5	57				
CORO2B	10391	broad.mit.edu	37	15	68987486	68987486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:68987486G>A	uc002arj.3	+	3	253	c.224G>A	c.(223-225)AGG>AAG	p.R75K	CORO2B_uc010bic.2_Missense_Mutation_p.R70K	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	75					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CAGACAGGCAGGATTGAACCC	0.532		NaN											0	0	0	0.00333	0	24	87				
NRG4	145957	broad.mit.edu	37	15	76254308	76254308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:76254308C>T	uc002bbo.2	-	4	296	c.112G>A	c.(112-114)GAA>AAA	p.E38K	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	38	Extracellular (Potential).|EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						GTATAGTTTTCAACGCACCTA	0.388		NaN											0	0	0	0.008871	0	21	107				
CHD2	1106	broad.mit.edu	37	15	93547859	93547859	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr15:93547859G>T	uc002bsp.2	+	34	4866	c.4291G>T	c.(4291-4293)GAT>TAT	p.D1431Y	CHD2_uc002bso.1_Missense_Mutation_p.D1431Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1431					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAAAGTGGTGATGCCAAATC	0.403		NaN											1	0	0.00307968	0.00308	0.00330587	7	132				
COG8	84342	broad.mit.edu	37	16	69373204	69373204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:69373204G>C	uc002ewy.2	-	1	323	c.252C>G	c.(250-252)TTC>TTG	p.F84L	COG8_uc002ewz.3_Missense_Mutation_p.F84L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	84					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						TGTAGTTAGCGAAGGCCAAGT	0.716		NaN											0	0	0	0.009096	0	4	30				
ANKRD11	29123	broad.mit.edu	37	16	89348346	89348346	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr16:89348346T>C	uc002fmx.1	-	9	5065	c.4604A>G	c.(4603-4605)AAG>AGG	p.K1535R	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1535R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1492R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1535	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCACCGTCCTTGAATTTCTC	0.597		NaN											0	0	0	0.004672	0	3	84				
MINK1	50488	broad.mit.edu	37	17	4799524	4799524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4799524G>T	uc010vsl.1	+	29	3698	c.3502G>T	c.(3502-3504)GAC>TAC	p.D1168Y	MINK1_uc010vsk.1_Missense_Mutation_p.D1139Y|MINK1_uc010vsm.1_Missense_Mutation_p.D1148Y|MINK1_uc010vsn.1_Missense_Mutation_p.D1131Y|MINK1_uc010vso.1_Missense_Mutation_p.D1076Y|MINK1_uc010vsp.1_Missense_Mutation_p.D629Y	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1168	Mediates interaction with RAP2A.|CNH.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						TCTGCTGGTCGACCTGACAGT	0.627		NaN									OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00116845	0.001168	0.00126139	6	53				
CAMTA2	23125	broad.mit.edu	37	17	4883529	4883529	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:4883529T>C	uc002gah.1	-	9	1196	c.1088A>G	c.(1087-1089)GAG>GGG	p.E363G	CAMTA2_uc010cku.1_Missense_Mutation_p.E386G|CAMTA2_uc002gag.1_Missense_Mutation_p.E362G|CAMTA2_uc002gai.1_Missense_Mutation_p.E365G|CAMTA2_uc010ckv.1_Missense_Mutation_p.E10G|CAMTA2_uc010vsu.1_Missense_Mutation_p.E176G	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	363					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCAGAAGGCTCAGTGCCTAC	0.617		NaN											0	0	0	0.003954	0	24	24				
SSH2	85464	broad.mit.edu	37	17	27963225	27963225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:27963225C>G	uc002heo.1	-	14	1942	c.1942G>C	c.(1942-1944)GAT>CAT	p.D648H	SSH2_uc010wbh.1_Missense_Mutation_p.D675H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	648					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCAATGCGATCTGTACTGAAA	0.498		NaN											0	0	0	0.004672	0	3	124				
MLLT6	4302	broad.mit.edu	37	17	36874167	36874167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:36874167G>A	uc002hqi.3	+	12	1916	c.1903G>A	c.(1903-1905)GTT>ATT	p.V635I	MLLT6_uc002hqj.2_Missense_Mutation_p.V70I|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	635					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CATGGGTGCCGTTAATCCCCT	0.557		NaN	T	MLL	AL								0	0	0	0.001984	0	6	170				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:39240729A>G	uc010wfn.1	+	1	271	c.271A>G	c.(271-273)ATG>GTG	p.M91V		NM_033061	NP_149050			keratin associated protein 4-7												0						cagctgctgtatgtccagctg	0.189		NaN											0	0	0	0.000602	0	3	38				
BECN1	8678	broad.mit.edu	37	17	40971588	40971588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:40971588G>A	uc002ibo.3	-	4	373	c.238C>T	c.(238-240)CGC>TGC	p.R80C	BECN1_uc010whb.1_5'UTR|BECN1_uc010whc.1_Missense_Mutation_p.R80C|BECN1_uc002ibn.2_Missense_Mutation_p.R80C	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	80					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGAATCTGCGAGAGACACCA	0.483		NaN									OREG0024429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	46				
MYST2	11143	broad.mit.edu	37	17	47893222	47893222	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:47893222G>A	uc002ipm.2	+	8	1036	c.910G>A	c.(910-912)GAG>AAG	p.E304K	MYST2_uc002ipl.1_Missense_Mutation_p.E274K|MYST2_uc010wma.1_Missense_Mutation_p.E165K|MYST2_uc010wmb.1_Missense_Mutation_p.E194K|MYST2_uc010wmc.1_Missense_Mutation_p.E135K|MYST2_uc010wmd.1_Missense_Mutation_p.E148K|MYST2_uc010wme.1_Missense_Mutation_p.E118K|MYST2_uc010wmf.1_5'UTR|MYST2_uc010wmg.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	304					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCTGACAAGCGAGTATGACTT	0.463		NaN											0	0	0	0.00499	0	14	95				
ANKFN1	162282	broad.mit.edu	37	17	54450013	54450013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54450013G>T	uc002iun.1	+	6	652	c.617G>T	c.(616-618)AGC>ATC	p.S206I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	206	Potential.									large_intestine(1)|ovary(1)	2						TTAGTTGTCAGCCTGGAAAGC	0.463		NaN											1	0	1.77063e-15	0.005443	2.10263e-15	27	103				
TRIM25	7706	broad.mit.edu	37	17	54991298	54991298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr17:54991298C>T	uc002iut.2	-	1	112	c.52G>A	c.(52-54)GAG>AAG	p.E18K	TRIM25_uc010dcj.2_5'UTR	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	18	RING-type.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					TTGAAGGGCTCCAGGCAGATG	0.682		NaN											0	0	0	0.009096	0	4	13				
MOCOS	55034	broad.mit.edu	37	18	33795828	33795828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:33795828G>A	uc002kzq.3	+	8	1708	c.1685G>A	c.(1684-1686)AGA>AAA	p.R562K		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	562					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GATGTCGCCAGAACCCAGCCG	0.552		NaN											0	0	0	0.001168	0	5	78				
TCEB3C	162699	broad.mit.edu	37	18	44555115	44555115	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:44555115G>A	uc010xdb.1	-	1	1335	c.1099C>T	c.(1099-1101)CTG>TTG	p.L367L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	367	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						CACCCTTCCAGAACGGGTTCA	0.607		NaN											0	0	0	0.006122	0	12	788				
C18orf54	162681	broad.mit.edu	37	18	51900620	51900620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:51900620G>A	uc002lfn.3	+	7	1128	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	C18orf54_uc002lfo.3_Missense_Mutation_p.E499K	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	338						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACAGTTGAAGGAAAGTATGAT	0.244		NaN											0	0	0	0.009096	0	3	43				
CDH20	28316	broad.mit.edu	37	18	59166706	59166706	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr18:59166706C>T	uc010dps.1	+	2	546	c.534C>T	c.(532-534)TCC>TCT	p.S178S	CDH20_uc002lif.2_Silent_p.S172S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	178	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CAGAAATGTCCCCTGTGGGTA	0.378		NaN											0	0	0	0.001855	0	12	39				
MUC16	94025	broad.mit.edu	37	19	9090712	9090712	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:9090712T>C	uc002mkp.2	-	1	1307	c.1103A>G	c.(1102-1104)CAT>CGT	p.H368R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	368	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGCGAAGGCATGGAAGGTAAG	0.502		NaN											0	0	0	0.010729	0	11	34				
SMARCA4	6597	broad.mit.edu	37	19	11094864	11094864	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:11094864C>T	uc002mqf.3	+	2	321	c.37C>T	c.(37-39)CGG>TGG	p.R13W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R13W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R13W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R13W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R13W|SMARCA4_uc002mqe.2_Missense_Mutation_p.R13W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	13	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGAACTCCTCGGCCAGGTCC	0.687		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.00245	0	13	56		Valid		
PLVAP	83483	broad.mit.edu	37	19	17476167	17476167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:17476167C>G	uc002ngk.1	-	3	1157	c.1107G>C	c.(1105-1107)AAG>AAC	p.K369N		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	369	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCGCCTCCCTCTTCTTCTCTT	0.617		NaN											0	0	0	0.004672	0	3	101				
GDF15	9518	broad.mit.edu	37	19	18499744	18499744	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:18499744G>C	uc002niv.2	+	2	958	c.926G>C	c.(925-927)TGA>TCA	p.*309S		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	309					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CACTGCATATGAGCAGTCCTG	0.572		NaN									OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	10	78				
GATAD2A	54815	broad.mit.edu	37	19	19613328	19613328	+	Silent	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:19613328C>A	uc010xqt.1	+	11	2076	c.1764C>A	c.(1762-1764)CTC>CTA	p.L588L	GATAD2A_uc010xqu.1_Silent_p.L217L|GATAD2A_uc010xqv.1_Silent_p.L608L|GATAD2A_uc010xqw.1_Silent_p.L391L	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	588					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGACGCCCCTCAGCACAGGTG	0.637		NaN											1	0	3.45872e-05	0.004007	3.84302e-05	16	86				
ZNF99	7652	broad.mit.edu	37	19	22939368	22939368	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:22939368T>C	uc010xrh.1	-	7	2803	c.2803A>G	c.(2803-2805)AAA>GAA	p.K935E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTGATTTATGTTTAGTA	0.373		NaN											0	0	0	0.004007	0	15	38				
SCGBL	284402	broad.mit.edu	37	19	35085106	35085106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35085106C>T	uc002nvn.2	-	2	242	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	74						extracellular region	binding				0						GCAAATCTTTCTGTCACGGAG	0.542		NaN											0	0	0	0.008871	0	17	175				
RSPH6A	81492	broad.mit.edu	37	19	46307611	46307611	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:46307611C>T	uc002pdm.2	-	3	1695	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	RSPH6A_uc002pdl.2_Missense_Mutation_p.D254N	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	518	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						TCGTAGGAGTCGCGCCCAGCA	0.647		NaN											0	0	0	0.013537	0	12	88				
SPHK2	56848	broad.mit.edu	37	19	49132875	49132875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:49132875G>A	uc002pjr.2	+	7	2176	c.1810G>A	c.(1810-1812)GCG>ACG	p.A604T	SPHK2_uc010xzt.1_Missense_Mutation_p.A545T|SPHK2_uc002pjs.2_Missense_Mutation_p.A604T|SPHK2_uc002pjt.2_Missense_Mutation_p.A398T|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.A568T|SPHK2_uc002pjw.2_Missense_Mutation_p.A666T	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	604					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGCTACGCCGCGGCCCGTGC	0.687		NaN											0	0	0	0.001168	0	4	10				
KLK10	5655	broad.mit.edu	37	19	51522384	51522384	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:51522384C>T	uc002puy.2	-	2	84	c.3G>A	c.(1-3)ATG>ATA	p.M1I	KLK10_uc002puz.2_Missense_Mutation_p.M1I|KLK10_uc002pva.2_Missense_Mutation_p.M1I	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	1					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGGAGCTCTCATGGCCAGGA	0.687		NaN											0	0	0	0.009096	0	4	16				
NLRP8	126205	broad.mit.edu	37	19	56466505	56466505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:56466505G>T	uc002qmh.2	+	3	1152	c.1081G>T	c.(1081-1083)GAA>TAA	p.E361*	NLRP8_uc010etg.2_Nonsense_Mutation_p.E361*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	361	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAATACGATGGAAAAAATCAA	0.463		NaN											1	0	5.35356e-11	0.00278	6.27886e-11	25	56				
C2orf28	51374	broad.mit.edu	37	2	27439745	27439745	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:27439745C>T	uc002rjf.2	+	7	957	c.784C>T	c.(784-786)CTG>TTG	p.L262L	C2orf28_uc002rjg.2_Silent_p.L149L|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	207	Helical; (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGATTCTGGGAGCCAC	0.502		NaN											0	0	0	0.005524	0	33	65				
SRD5A2	6716	broad.mit.edu	37	2	31754425	31754425	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:31754425G>T	uc002rnw.1	-	5	721	c.650C>A	c.(649-651)GCA>GAA	p.A217E		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	217	Helical; (Potential).				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TGAGAAAAATGCAAATGCAAG	0.458		NaN											1	0	1.5739e-10	0.004007	1.8346e-10	16	25				
PCBP1	5093	broad.mit.edu	37	2	70314888	70314888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:70314888G>A	uc002sgf.2	+	1	304	c.13G>A	c.(13-15)GTG>ATG	p.V5M	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	5					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						GGATGCCGGTGTGACTGAAAG	0.587		NaN											0	0	0	0.013537	0	10	63				
ANKRD36	375248	broad.mit.edu	37	2	97854837	97854837	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:97854837G>A	uc010yva.1	+	33	2401	c.2157G>A	c.(2155-2157)AAG>AAA	p.K719K	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Intron|ANKRD36_uc002sxq.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	719											0						CTTCTCAGAAGCAACCAGCCT	0.308		NaN											0	0	0	0.004672	0	3	13				
DNAH7	56171	broad.mit.edu	37	2	196664028	196664028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:196664028C>T	uc002utj.3	-	55	10446	c.10345G>A	c.(10345-10347)GAT>AAT	p.D3449N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3449	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACCTGGTCATCAGCAAATTTT	0.388		NaN											0	0	0	0.012319	0	21	90				
SPEG	10290	broad.mit.edu	37	2	220337647	220337647	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:220337647G>A	uc010fwg.2	+	16	3976	c.3976G>A	c.(3976-3978)GTG>ATG	p.V1326M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1326	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCACCAGGTGCTGGGCTC	0.662		NaN											0	0	0	0.00278	0	21	15				
FARSB	10056	broad.mit.edu	37	2	223464733	223464733	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr2:223464733A>G	uc002vne.1	-	16	1567	c.1532T>C	c.(1531-1533)ATT>ACT	p.I511T	FARSB_uc010zlq.1_Missense_Mutation_p.I531T|FARSB_uc002vnf.1_Missense_Mutation_p.I412T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	511					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CAGCCCATGAATGATCTCAAA	0.433		NaN											0	0	0	0.00278	0	24	67				
C20orf141	128653	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:2795885C>T	uc010gat.2	+	2	138	c.55C>T	c.(55-57)CCT>TCT	p.P19S	C20orf141_uc002wgv.1_Missense_Mutation_p.P19S|C20orf141_uc002wgw.2_Missense_Mutation_p.P19S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	19						integral to membrane					0						GATCCCAGTTCCTCCAAGGGG	0.617		NaN											0	0	0	0.004482	0	9	156				
ZHX3	23051	broad.mit.edu	37	20	39833262	39833262	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr20:39833262C>T	uc002xjs.1	-	3	673	c.295G>A	c.(295-297)GAG>AAG	p.E99K	ZHX3_uc002xjq.1_Missense_Mutation_p.E99K|ZHX3_uc002xjr.1_Missense_Mutation_p.E99K|ZHX3_uc002xjt.1_Missense_Mutation_p.E99K|ZHX3_uc002xju.1_Missense_Mutation_p.E99K|ZHX3_uc002xjv.1_Missense_Mutation_p.E99K|ZHX3_uc002xjw.1_Missense_Mutation_p.E99K|ZHX3_uc010ggg.1_Missense_Mutation_p.E99K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	99	Required for nuclear localization.|C2H2-type 1.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TCTGTGTGCTCTGAGTTCATA	0.443		NaN											0	0	0	0.001168	0	5	136				
COL6A1	1291	broad.mit.edu	37	21	47423837	47423837	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr21:47423837C>T	uc002zhu.1	+	35	3099	c.2997C>T	c.(2995-2997)GGC>GGT	p.G999G	COL6A1_uc010gqd.1_Silent_p.G330G|COL6A1_uc002zhv.1_Silent_p.G330G|COL6A1_uc002zhw.1_Silent_p.G93G	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	999	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCCTACGGCGAGAGCCACC	0.667		NaN											0	0	0	0.010729	0	11	102				
CNTN4	152330	broad.mit.edu	37	3	3078912	3078912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:3078912G>C	uc003bpc.2	+	17	2213	c.1992G>C	c.(1990-1992)TTG>TTC	p.L664F	CNTN4_uc003bpb.1_Missense_Mutation_p.L335F|CNTN4_uc003bpd.1_Missense_Mutation_p.L664F|CNTN4_uc003bpe.2_Missense_Mutation_p.L336F|CNTN4_uc003bpf.2_Missense_Mutation_p.L335F|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	664	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGTGGGTTTGAACCCTTGGG	0.502		NaN											0	0	0	0.010729	0	12	293				
LMCD1	29995	broad.mit.edu	37	3	8590590	8590590	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:8590590G>A	uc003bqq.2	+	4	837	c.723_splice	c.e4+1	p.Y241_splice	LMCD1_uc011atd.1_Splice_Site_p.Y168_splice|LMCD1_uc011ate.1_Splice_Site_p.Y129_splice|LMCD1_uc011atf.1_Splice_Site_p.Y168_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGTGGAATACGTAAGTTTCTC	0.572		NaN											0	0	0	0.001168	0	6	10				
RBMS3	27303	broad.mit.edu	37	3	30032585	30032585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:30032585G>A	uc003cel.2	+	14	1422	c.1192G>A	c.(1192-1194)GAT>AAT	p.D398N	RBMS3_uc003cek.2_Missense_Mutation_p.D382N|RBMS3_uc010hfq.2_Missense_Mutation_p.D395N|RBMS3_uc003cem.2_Missense_Mutation_p.D380N|RBMS3_uc010hfr.2_Missense_Mutation_p.D382N	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	398						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TGTTGTTGCTGATACCTCTCC	0.488		NaN											0	0	0	0.009096	0	4	63				
ADAMTS9	56999	broad.mit.edu	37	3	64589991	64589991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:64589991G>T	uc003dmg.2	-	24	3523	c.3491C>A	c.(3490-3492)TCA>TAA	p.S1164*	ADAMTS9_uc011bfo.1_Nonsense_Mutation_p.S1136*|ADAMTS9_uc003dmh.1_Nonsense_Mutation_p.S993*|ADAMTS9_uc011bfp.1_Nonsense_Mutation_p.S75*	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1164	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGGATGACATGATGGTAATTC	0.458		NaN											1	0	4.96729e-08	0.008871	5.65141e-08	16	73				
NEK11	79858	broad.mit.edu	37	3	130828651	130828651	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:130828651G>T	uc003eny.2	+	5	667	c.341G>T	c.(340-342)CGA>CTA	p.R114L	NEK11_uc003enx.2_Missense_Mutation_p.R114L|NEK11_uc003eoa.2_Missense_Mutation_p.R114L|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.R114L|NEK11_uc003enw.1_Missense_Mutation_p.R114L|NEK11_uc011blm.1_Missense_Mutation_p.R114L|NEK11_uc010hto.1_5'UTR	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	114	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						TTTCAGGGCCGAGATCTGGAC	0.333		NaN											1	0	7.03913e-09	0.013537	8.10566e-09	12	96				
SMC4	10051	broad.mit.edu	37	3	160137215	160137215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:160137215C>T	uc003fdh.2	+	12	1854	c.1741C>T	c.(1741-1743)CAA>TAA	p.Q581*	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Nonsense_Mutation_p.Q345*|SMC4_uc003fdi.2_Nonsense_Mutation_p.Q556*|SMC4_uc003fdj.2_Nonsense_Mutation_p.Q581*|SMC4_uc010hwd.2_Nonsense_Mutation_p.Q581*|SMC4_uc003fdl.2_Nonsense_Mutation_p.Q284*	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	581	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATCTCTTTCAAAAAGTTGA	0.323		NaN											0	0	0	0.001168	0	5	70				
OTOP1	133060	broad.mit.edu	37	4	4190623	4190623	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:4190623G>A	uc003ghp.1	-	6	1776	c.1746C>T	c.(1744-1746)CCC>CCT	p.P582P		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAATTATCCAGGGTTCAAAGC	0.463		NaN											0	0	0	0.008361	0	16	121				
ATP10D	57205	broad.mit.edu	37	4	47584075	47584075	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:47584075G>A	uc003gxk.1	+	21	3911	c.3747G>A	c.(3745-3747)AAG>AAA	p.K1249K	ATP10D_uc003gxl.1_Silent_p.K497K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1249	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TTGAAAGCAAGAGTTTGGTGA	0.448		NaN											0	0	0	0.00499	0	16	125				
LRBA	987	broad.mit.edu	37	4	151729481	151729481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:151729481G>C	uc010ipj.2	-	32	5849	c.5375C>G	c.(5374-5376)TCA>TGA	p.S1792*	LRBA_uc003ilt.3_Nonsense_Mutation_p.S451*|LRBA_uc003ilu.3_Nonsense_Mutation_p.S1792*	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1792						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCTCATATTTGAAACCGGATC	0.279		NaN											0	0	0	0.007413	0	18	50				
SH3D19	152503	broad.mit.edu	37	4	152065413	152065413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152065413C>T	uc010ipl.1	-	12	2360	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K	SH3D19_uc003imb.2_Intron|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Intron|SH3D19_uc010ipm.2_Intron	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	424	SH3 1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACAATATCTTCATTGGCAATT	0.363		NaN											0	0	0	0.00245	0	14	183				
SH3D19	152503	broad.mit.edu	37	4	152086849	152086849	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr4:152086849C>T	uc010ipl.1	-	8	1785	c.695_splice	c.e8-1	p.D232_splice	SH3D19_uc003imb.2_Missense_Mutation_p.D10N|SH3D19_uc003imc.2_Intron|SH3D19_uc003ime.2_Splice_Site_p.D232_splice|SH3D19_uc010ipm.2_Splice_Site_p.D232_splice	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAAAGGGATCTAATGAAAAA	0.393		NaN											0	0	0	0.008291	0	11	87				
CDH12	1010	broad.mit.edu	37	5	21975425	21975425	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:21975425C>A	uc010iuc.2	-	3	759	c.301G>T	c.(301-303)GTT>TTT	p.V101F	CDH12_uc011cno.1_Missense_Mutation_p.V101F|CDH12_uc003jgk.2_Missense_Mutation_p.V101F	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	101	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						ATGGTAAAAACGGTGCCAGCG	0.433		NaN								HNSCC(59;0.17)			1	0	5.18039e-06	0.00308	5.78985e-06	8	128				
RXFP3	51289	broad.mit.edu	37	5	33937955	33937955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:33937955G>A	uc003jic.1	+	1	1467	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	370	Helical; Name=7; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AGGTATACGCGTTCCCTGTGA	0.617		NaN											0	0	0	0.003954	0	23	104				
GAPT	202309	broad.mit.edu	37	5	57790716	57790716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:57790716C>G	uc003jro.1	+	3	747	c.353C>G	c.(352-354)TCT>TGT	p.S118C		NM_152687	NP_689900	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	118					B cell activation	integral to membrane|plasma membrane					0						ACAGGGCAGTCTAATTTCGAG	0.398		NaN											0	0	0	0.003163	0	15	99				
PDE4D	5144	broad.mit.edu	37	5	58270597	58270597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:58270597G>C	uc003jsa.2	-	15	2496	c.2324C>G	c.(2323-2325)TCT>TGT	p.S775C	PDE4D_uc003jrx.2_Missense_Mutation_p.S639C|PDE4D_uc003jry.2_Missense_Mutation_p.S473C|PDE4D_uc003jrz.2_Missense_Mutation_p.S711C|PDE4D_uc003jsb.2_Missense_Mutation_p.S714C|PDE4D_uc003jrt.2_Missense_Mutation_p.S473C|PDE4D_uc003jru.2_Missense_Mutation_p.S551C|PDE4D_uc003jrv.2_Missense_Mutation_p.S645C|PDE4D_uc003jrw.2_Missense_Mutation_p.S653C|PDE4D_uc003jrs.2_Missense_Mutation_p.S484C	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	775					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATTTCAGTAGACTCTGAGTC	0.488		NaN											0	0	0	0.001168	0	6	362				
MAST4	375449	broad.mit.edu	37	5	66459603	66459603	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:66459603G>A	uc003jut.1	+	28	4097	c.4029G>A	c.(4027-4029)CTG>CTA	p.L1343L	MAST4_uc003juw.2_Silent_p.L1271L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1535						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGACAAGCTGAAGGCCAAGG	0.607		NaN											0	0	0	0.004672	0	3	11				
CDK7	1022	broad.mit.edu	37	5	68548275	68548275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:68548275G>C	uc003jvs.3	+	3	338	c.157G>C	c.(157-159)GAT>CAT	p.D53H	CDK7_uc010ixd.1_Missense_Mutation_p.D53H|CDK7_uc003jvt.3_Missense_Mutation_p.D12H|CDK7_uc003jvu.3_5'UTR	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	53	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGAAGCTAAAGATGGTAAGTA	0.209		NaN						NER					0	0	0	0.004672	0	3	84				
OTP	23440	broad.mit.edu	37	5	76932777	76932777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:76932777G>T	uc003kfg.2	-	2	464	c.316C>A	c.(316-318)CGC>AGC	p.R106S		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	106	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTCCGGTGGCGCTTCTGCTTC	0.667		NaN											1	0	9.35349e-44	0.01441	1.13195e-43	76	83				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139914968	139914968	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:139914968C>G	uc003lfs.1	+	30	6996	c.6872C>G	c.(6871-6873)TCA>TGA	p.S2291*	ANKHD1_uc003lfr.2_Nonsense_Mutation_p.S2291*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.S1030*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.S929*|ANKHD1_uc010jfl.2_Intron|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.S428*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2291						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGACCCATCAGGCAGCTCC	0.473		NaN											0	0	0	0.013537	0	10	162				
PCDHA11	56138	broad.mit.edu	37	5	140250655	140250655	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:140250655C>T	uc003lia.2	+	1	2825	c.1967C>T	c.(1966-1968)CCG>CTG	p.P656L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P656L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	656	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCGGCGCTGACG	0.677		NaN											0	0	0	0.010729	0	12	68				
CSF1R	1436	broad.mit.edu	37	5	149434896	149434896	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149434896A>G	uc003lrl.2	-	19	2753	c.2558T>C	c.(2557-2559)CTG>CCG	p.L853P	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L853P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	853	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTAGGGATTCAGCCCTGCAAA	0.507		NaN											0	0	0	0.004672	0	3	99				
PDGFRB	5159	broad.mit.edu	37	5	149513181	149513181	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:149513181T>C	uc003lro.2	-	6	1371	c.902A>G	c.(901-903)CAG>CGG	p.Q301R	PDGFRB_uc010jhd.2_Missense_Mutation_p.Q140R|PDGFRB_uc011dcg.1_Missense_Mutation_p.Q301R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	301	Extracellular (Potential).|Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTTCATCCTGATGGTCATT	0.557		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								0	0	0	0.001984	0	5	319				
IL12B	3593	broad.mit.edu	37	5	158750185	158750185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr5:158750185C>G	uc003lxr.1	-	3	283	c.241G>C	c.(241-243)GAG>CAG	p.E81Q		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	81	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCCAAACTCTTTGACTTGG	0.517		NaN											0	0	0	0.004672	0	3	61				
TFAP2A	7020	broad.mit.edu	37	6	10410338	10410338	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:10410338C>T	uc003myr.2	-	2	528	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	TFAP2A_uc003myq.2_Silent_p.Q86Q|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.Q92Q|TFAP2A_uc003myt.2_Silent_p.Q88Q|TFAP2A_uc003myu.1_Silent_p.Q92Q|TFAP2A_uc003myv.1_Silent_p.Q78Q|TFAP2A_uc011dii.1_Silent_p.Q88Q|uc003myw.2_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	92	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGCCTGGGTGCTGCGGCTGCG	0.692		NaN											0	0	0	0.010729	0	10	61				
DDR1	780	broad.mit.edu	37	6	30862337	30862337	+	Missense_Mutation	SNP	G	G	A	rs145788270		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:30862337G>A	uc003nrr.2	+	12	1661	c.1402G>A	c.(1402-1404)GAC>AAC	p.D468N	DDR1_uc010jse.2_Missense_Mutation_p.D468N|DDR1_uc003nrq.2_Missense_Mutation_p.D468N|DDR1_uc003nrs.2_Missense_Mutation_p.D468N|DDR1_uc003nrt.2_Missense_Mutation_p.D468N|DDR1_uc011dms.1_Missense_Mutation_p.D486N|DDR1_uc003nru.2_Missense_Mutation_p.D468N|DDR1_uc003nrv.2_Missense_Mutation_p.D468N|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	468	Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TGTCCCTGGGGACACTATCCT	0.627		NaN											0	0	0	0.001168	0	6	101				
C6orf81	221481	broad.mit.edu	37	6	35716341	35716341	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:35716341C>G	uc003ola.2	+	6	825	c.798C>G	c.(796-798)TTC>TTG	p.F266L	C6orf81_uc003olb.1_Intron	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	239							binding			ovary(1)	1						TAAACCTGTTCCAGCCCACAC	0.488		NaN											0	0	0	0.001984	0	6	61				
TDRD6	221400	broad.mit.edu	37	6	46660917	46660917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:46660917G>C	uc003oyj.2	+	1	5052	c.5052G>C	c.(5050-5052)TTG>TTC	p.L1684F	TDRD6_uc010jze.2_Missense_Mutation_p.L1678F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1684					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TTGTTGACTTGAAAAGCAAAG	0.303		NaN											0	0	0	0.000602	0	5	34				
COL19A1	1310	broad.mit.edu	37	6	70909320	70909320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:70909320G>A	uc003pfc.1	+	49	3220	c.3103G>A	c.(3103-3105)GCT>ACT	p.A1035T		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1035					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						AGAGAGGATGGCTGTATTCCT	0.413		NaN											0	0	0	0.003163	0	16	38				
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:123332247C>A	uc003pzi.1	+	3	1376	c.507C>A	c.(505-507)TTC>TTA	p.F169L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACTTCACTTTCAAGCAAGCCT	0.413		NaN											1	0	0.000274275	0.004482	0.000302978	9	58				
LAMA2	3908	broad.mit.edu	37	6	129691064	129691064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:129691064G>A	uc003qbn.2	+	34	4993	c.4888G>A	c.(4888-4890)GAG>AAG	p.E1630K	LAMA2_uc003qbo.2_Missense_Mutation_p.E1630K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1630	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCGGGCCCCAGAGAGGCTTAT	0.458		NaN											0	0	0	0.012319	0	20	50				
TAAR1	134864	broad.mit.edu	37	6	132966336	132966336	+	Silent	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:132966336G>T	uc003qdm.1	-	1	807	c.807C>A	c.(805-807)ATC>ATA	p.I269I		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	269	Helical; Name=6; (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGACTGTACAGATAAAGAAAG	0.368		NaN											1	0	1.64293e-13	0.00333	1.93887e-13	24	33				
MAD1L1	8379	broad.mit.edu	37	7	2259077	2259077	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:2259077C>T	uc003slh.1	-	6	752	c.486G>A	c.(484-486)CTG>CTA	p.L162L	MAD1L1_uc003slf.1_Silent_p.L162L|MAD1L1_uc003slg.1_Silent_p.L162L|MAD1L1_uc010ksh.1_Silent_p.L162L|MAD1L1_uc003sli.1_Silent_p.L70L|MAD1L1_uc010ksi.1_Silent_p.L115L|MAD1L1_uc010ksj.2_Silent_p.L162L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	162	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCTCCCCTTCAGTGCGTTGA	0.602		NaN											0	0	0	0.000602	0	5	26				
TSGA14	95681	broad.mit.edu	37	7	130039926	130039926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:130039926C>G	uc003vpz.2	-	10	974	c.927G>C	c.(925-927)AAG>AAC	p.K309N	TSGA14_uc003vpy.2_Missense_Mutation_p.K71N|TSGA14_uc010lmf.2_Missense_Mutation_p.K106N|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	309					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					AATATTCTATCTTTTTTAAGT	0.453		NaN											0	0	0	0.01441	0	76	107				
TAS2R5	54429	broad.mit.edu	37	7	141490167	141490167	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:141490167G>A	uc003vwr.1	+	1	151	c.6G>A	c.(4-6)CTG>CTA	p.L2L		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	2	Helical; Name=1; (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					CAGCCATGCTGAGCGCTGGCC	0.512		NaN											0	0	0	0.000602	0	4	112				
TRPV5	56302	broad.mit.edu	37	7	142605800	142605800	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:142605800C>T	uc003wby.1	-	15	2334	c.2070G>A	c.(2068-2070)CGG>CGA	p.R690R		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	690	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GGGACGCGGTCCGGGACAGGG	0.582		NaN											0	0	0	0.000602	0	5	105				
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:150417944C>T	uc003whq.2	+	3	939	c.852C>T	c.(850-852)GGC>GGT	p.G284G	GIMAP1_uc003whp.2_Silent_p.G292G	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284	Helical; Anchor for type IV membrane protein; (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687		NaN											0	0	0	0.009096	0	4	21				
MLL3	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr7:151864343G>A	uc003wla.2	-	42	9857	c.9638C>T	c.(9637-9639)TCA>TTA	p.S3213L	MLL3_uc003wkz.2_Missense_Mutation_p.S2274L|MLL3_uc003wky.2_Missense_Mutation_p.S722L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3213	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTTTAGCTGAAAGGGCCTT	0.443		NaN	N		medulloblastoma								0	0	0	0.008291	0	10	101		Valid		
USP17L2	377630	broad.mit.edu	37	8	11996072	11996072	+	Silent	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:11996072C>T	uc003wvc.1	-	1	198	c.198G>A	c.(196-198)AAG>AAA	p.K66K	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	66				K -> E (in Ref. 1; AAR91701).	apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						GAGGAAGCTTCTTCCTGGGAG	0.567		NaN											0	0	0	0.00308	0	8	94				
SLC7A2	6542	broad.mit.edu	37	8	17406258	17406258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:17406258C>T	uc011kyc.1	+	4	773	c.604C>T	c.(604-606)CTT>TTT	p.L202F	SLC7A2_uc011kyd.1_Missense_Mutation_p.L242F|SLC7A2_uc011kye.1_Missense_Mutation_p.L242F|SLC7A2_uc011kyf.1_Missense_Mutation_p.L202F	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	202	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATTCTCGTCCTTCTGTTTGT	0.368		NaN											0	0	0	0.001984	0	5	124				
NAT1	9	broad.mit.edu	37	8	18079981	18079981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:18079981A>G	uc010ltd.2	+	5	792	c.425A>G	c.(424-426)GAT>GGT	p.D142G	NAT1_uc003wyt.2_Missense_Mutation_p.D204G|NAT1_uc003wyu.2_Missense_Mutation_p.D142G|NAT1_uc003wyv.2_Missense_Mutation_p.D142G|NAT1_uc010ltc.2_Missense_Mutation_p.D142G|NAT1_uc003wys.2_Missense_Mutation_p.D204G|NAT1_uc003wyr.2_Missense_Mutation_p.D142G|NAT1_uc003wyq.2_Missense_Mutation_p.D142G|NAT1_uc011kyl.1_Missense_Mutation_p.D142G	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	N-acetyltransferase 1 isoform a	142					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity				0				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TCTGGGAAGGATCAGCCTCAG	0.473		NaN											0	0	0	0.009096	0	4	121				
NRG1	3084	broad.mit.edu	37	8	32616847	32616847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:32616847C>G	uc003xiv.2	+	10	1471	c.954C>G	c.(952-954)ATC>ATG	p.I318M	NRG1_uc011lbf.1_Missense_Mutation_p.I315M|NRG1_uc010lvo.2_Missense_Mutation_p.I315M|NRG1_uc003xiu.2_Missense_Mutation_p.I323M|NRG1_uc003xiw.2_Missense_Mutation_p.I315M|NRG1_uc003xit.2_Missense_Mutation_p.I318M|NRG1_uc010lvr.2_Missense_Mutation_p.I60M|NRG1_uc010lvs.2_Missense_Mutation_p.I60M|NRG1_uc010lvp.2_Missense_Mutation_p.I272M|NRG1_uc010lvq.2_Missense_Mutation_p.I255M|NRG1_uc011lbg.1_Missense_Mutation_p.I164M|NRG1_uc011lbh.1_Missense_Mutation_p.I161M|NRG1_uc003xja.2_Missense_Mutation_p.I129M	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	318	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAACGTCATCTCCAGTGAGC	0.403		NaN											0	0	0	0.00499	0	17	63				
PI15	51050	broad.mit.edu	37	8	75757469	75757469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:75757469G>A	uc003yal.2	+	4	678	c.499G>A	c.(499-501)GGT>AGT	p.G167S	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.G167S	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	167						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GAGATGTTTTGGTCCCATGTG	0.368		NaN											0	0	0	0.00278	0	19	97				
NBN	4683	broad.mit.edu	37	8	90993117	90993117	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:90993117C>T	uc003yej.1	-	4	435	c.325G>A	c.(325-327)GAG>AAG	p.E109K	NBN_uc003yei.1_Missense_Mutation_p.E27K|NBN_uc011lgb.1_Missense_Mutation_p.E109K	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	109	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGCTCATACTCTATTCTGTAA	0.328		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.000602	0	5	20				
LRP12	29967	broad.mit.edu	37	8	105503599	105503599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:105503599C>T	uc003yma.2	-	7	1977	c.1882G>A	c.(1882-1884)GTT>ATT	p.V628I	LRP12_uc003ymb.2_Missense_Mutation_p.V609I|LRP12_uc003ylz.2_Missense_Mutation_p.V34I	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	628	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTAGGGACAACCTCATCTCCA	0.428		NaN											0	0	0	0.003163	0	14	67				
ZFPM2	23414	broad.mit.edu	37	8	106573710	106573710	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr8:106573710G>A	uc003ymd.2	+	4	443	c.420_splice	c.e4+1	p.L140_splice		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAATTCTTTGGTATGTGGATA	0.408		NaN											0	0	0	0.010504	0	21	16				
FREM1	158326	broad.mit.edu	37	9	14746434	14746434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14746434C>T	uc003zlm.2	-	35	6761	c.6171G>A	c.(6169-6171)TGG>TGA	p.W2057*	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.W593*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2057					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGCTGGTGCCACCCGGCTG	0.493		NaN											0	0	0	0.009096	0	4	135				
FREM1	158326	broad.mit.edu	37	9	14808019	14808019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:14808019G>A	uc003zlm.2	-	17	3597	c.3007C>T	c.(3007-3009)CCA>TCA	p.P1003S	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1003	CSPG 6.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGAAGTGGAACAGATGGA	0.463		NaN											0	0	0	0.008871	0	20	149				
TMEM215	401498	broad.mit.edu	37	9	32784282	32784282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:32784282G>A	uc003zri.3	+	2	466	c.101G>A	c.(100-102)GGG>GAG	p.G34E		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	34						integral to membrane					0						GGGATGAAAGGGGAGACTTTG	0.592		NaN											0	0	0	0.00278	0	25	64				
NFX1	4799	broad.mit.edu	37	9	33342807	33342807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:33342807G>A	uc003zsq.2	+	13	2240	c.2179G>A	c.(2179-2181)GAA>AAA	p.E727K	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.E727K|NFX1_uc003zso.2_Missense_Mutation_p.E727K|NFX1_uc003zsp.1_Missense_Mutation_p.E727K|NFX1_uc010mjr.1_Missense_Mutation_p.E728K|NFX1_uc003zsr.2_Missense_Mutation_p.E728K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	727	NF-X1-type 6.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCATAGGTGTGAAGAACCTTG	0.398		NaN											0	0	0	0.004007	0	14	29				
ODF2	4957	broad.mit.edu	37	9	131243909	131243909	+	Silent	SNP	G	G	A	rs150687097		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr9:131243909G>A	uc011mbd.1	+	9	1205	c.894G>A	c.(892-894)GCG>GCA	p.A298A	ODF2_uc011maz.1_Silent_p.A298A|ODF2_uc011mba.1_Silent_p.A83A|ODF2_uc010myb.2_Silent_p.A274A|ODF2_uc011mbb.1_Silent_p.A232A|ODF2_uc011mbc.1_Silent_p.A217A|ODF2_uc004bva.2_Silent_p.A251A|ODF2_uc004bvb.2_Silent_p.A274A|ODF2_uc011mbe.1_Silent_p.A293A|ODF2_uc004bvc.2_Silent_p.A274A|ODF2_uc010myc.2_Silent_p.A241A|ODF2_uc011mbf.1_Silent_p.A279A|ODF2_uc004bvd.3_Silent_p.A298A|ODF2_uc004bve.2_Silent_p.A279A	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	298	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AACGGCTGGCGGAGGCCGACT	0.483		NaN											0	0	0	0.000602	0	5	42				
ASMTL	8623	broad.mit.edu	37	X	1553955	1553955	+	Silent	SNP	G	G	A			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:1553955G>A	uc004cpx.1	-	5	471	c.360C>T	c.(358-360)AGC>AGT	p.S120S	ASMTL_uc011mhe.1_Silent_p.S44S|ASMTL_uc004cpy.1_Silent_p.S104S|ASMTL_uc011mhf.1_Silent_p.S62S	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	120	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGTGAACACGCTGTGTTCTC	0.587		NaN											0	0	0	0.00308	0	6	96				
ARSD	414	broad.mit.edu	37	X	2828744	2828744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:2828744C>G	uc004cqy.2	-	7	1167	c.1091G>C	c.(1090-1092)AGA>ACA	p.R364T	ARSD_uc004cqz.1_Intron	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	364						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGTCCATCTCTTGCCTCTAA	0.443		NaN											0	0	0	0.009096	0	4	251				
DMD	1756	broad.mit.edu	37	X	32235111	32235111	+	Silent	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:32235111T>C	uc004dda.1	-	44	6604	c.6360A>G	c.(6358-6360)CTA>CTG	p.L2120L	DMD_uc004dcw.2_Silent_p.L776L|DMD_uc004dcx.2_Silent_p.L779L|DMD_uc004dcz.2_Silent_p.L1997L|DMD_uc004dcy.1_Silent_p.L2116L|DMD_uc004ddb.1_Silent_p.L2112L|DMD_uc010ngo.1_Silent_p.L29L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2120	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCTTCTGTTAGCCACTGAT	0.343		NaN											0	0	0	0.013537	0	13	19				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:47030582G>T	uc004dhf.2	+	4	736	c.357G>T	c.(355-357)GAG>GAT	p.E119D	RBM10_uc004dhe.1_Missense_Mutation_p.E109D|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.E119D|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.E184D	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						aggaggaggaggatgaggagg	0.522		NaN											1	0	0.000602214	0.000602	0.000661392	5	38				
DGKK	139189	broad.mit.edu	37	X	50213512	50213512	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:50213512C>G	uc010njr.1	-	1	226	c.166G>C	c.(166-168)GAG>CAG	p.E56Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	56	3.|33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GGACAGGGCTCTGGTATGGGT	0.323		NaN											0	0	0	0.00499	0	18	101				
SMC1A	8243	broad.mit.edu	37	X	53436075	53436075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:53436075C>T	uc004dsg.2	-	9	1532	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	SMC1A_uc011moe.1_Missense_Mutation_p.R466H|SMC1A_uc011mof.1_Missense_Mutation_p.R254H	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	488	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						GCGGTCGATGCGGGCATCCCC	0.567		NaN											0	0	0	0.001168	0	4	93				
UBQLN2	29978	broad.mit.edu	37	X	56590917	56590917	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:56590917T>C	uc004dus.2	+	1	846	c.611T>C	c.(610-612)CTG>CCG	p.L204P	UBQLN2_uc011moq.1_Missense_Mutation_p.L204P	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	204						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						ATGAGGCAGCTCATTATGGCT	0.453		NaN											0	0	0	0.00623	0	40	43				
LAS1L	81887	broad.mit.edu	37	X	64749124	64749124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:64749124G>T	uc004dwa.1	-	6	886	c.814C>A	c.(814-816)CTG>ATG	p.L272M	LAS1L_uc004dwc.1_Missense_Mutation_p.L272M|LAS1L_uc004dwd.1_Missense_Mutation_p.L230M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	272						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GATACCAGCAGTTCTCGGGCT	0.463		NaN									OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	4.35082e-09	0.010504	5.04058e-09	20	33				
USP26	83844	broad.mit.edu	37	X	132160985	132160985	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chrX:132160985C>T	uc010nrm.1	-	6	1734	c.1264G>A	c.(1264-1266)GCT>ACT	p.A422T	USP26_uc011mvf.1_Missense_Mutation_p.A422T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	422					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GGATCATCAGCAAAAACCTGT	0.373		NaN											0	0	0	0.00499	0	18	70				
DNAJC11	55735	broad.mit.edu	37	1	6704689	6704689	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:6704689C>T	uc001aof.2	-	10	1132	c.1026G>A	c.(1024-1026)AAG>AAA	p.K342K	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.K342K|DNAJC11_uc010nzu.1_Silent_p.K252K	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	342					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGAGATCTTCCTCTCAG	0.552		NaN											0	0	0	0.000491102	0	30	52				
MTHFR	4524	broad.mit.edu	37	1	11854538	11854538	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:11854538C>G	uc001atc.1	-	8	1408	c.1224G>C	c.(1222-1224)CTG>CTC	p.L408L	MTHFR_uc001atb.1_Silent_p.L431L	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	408					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACTTGCTCTTCAGGTAGAAGA	0.562		NaN											0	0	0	0.000229342	0	18	106				
MACF1	23499	broad.mit.edu	37	1	39776610	39776610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:39776610G>A	uc010ois.1	+	27	3428	c.3223G>A	c.(3223-3225)GCC>ACC	p.A1075T	MACF1_uc001cda.1_Missense_Mutation_p.A983T|MACF1_uc001cdc.1_Missense_Mutation_p.A162T|MACF1_uc009vvq.1_Missense_Mutation_p.A132T|MACF1_uc001cdb.1_Missense_Mutation_p.A162T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1075					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGTCTCTAGCCAGCTCTAG	0.502		NaN											0	0	0	0.000147903	0	42	63				
LEPRE1	64175	broad.mit.edu	37	1	43228147	43228147	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43228147C>G	uc001chv.2	-	2	579	c.466_splice	c.e2-1	p.I156_splice	LEPRE1_uc001chw.2_Splice_Site_p.I156_splice|LEPRE1_uc001chx.3_Splice_Site_p.I156_splice|LEPRE1_uc001chy.3_Intron	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1						negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTTGTTGATCTAAGAATGAA	0.463		NaN											0	0	0	0.000147903	0	48	95				
KIAA0467	23334	broad.mit.edu	37	1	43902989	43902989	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:43902989C>G	uc001cjk.1	+	28	3947	c.3485C>G	c.(3484-3486)TCT>TGT	p.S1162C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2061						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGGGGGTCTCTCGGGGTATG	0.552		NaN											0	0	0	0.000295444	0	20	90				
STIL	6491	broad.mit.edu	37	1	47728683	47728683	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:47728683C>A	uc001crc.1	-	15	2873	c.2718G>T	c.(2716-2718)GGG>GGT	p.G906G	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.G860G|STIL_uc010omo.1_Silent_p.G889G|STIL_uc001crd.1_Silent_p.G907G|STIL_uc001cre.1_Silent_p.G906G|STIL_uc001crf.1_Silent_p.G519G|STIL_uc001crg.1_Silent_p.G842G	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	906					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACTGGCACCCCCTGTTGGTC	0.433		NaN											1	0	0.000274275	0.000274275	0.00417306	8	144				
BTF3L4	91408	broad.mit.edu	37	1	52530608	52530608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:52530608G>C	uc001ctk.2	+	3	374	c.166G>C	c.(166-168)GAG>CAG	p.E56Q	BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Missense_Mutation_p.E56Q	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4 isoform 1	56	NAC-A/B.									large_intestine(1)	1						TGGTATTGAAGAGGTATGATC	0.358		NaN											0	0	0	0.000175454	0	22	52				
GPR88	54112	broad.mit.edu	37	1	101005559	101005559	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:101005559C>A	uc001dth.2	+	2	1441	c.1037C>A	c.(1036-1038)TCC>TAC	p.S346Y		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	346	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCCGCCGCTCCGTGCGCTCA	0.741		NaN											1	0	0.00024832	0.00024832	0.00378859	3	0				
CELSR2	1952	broad.mit.edu	37	1	109793966	109793966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:109793966C>T	uc001dxa.3	+	1	1326	c.1265C>T	c.(1264-1266)ACA>ATA	p.T422I		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	422	Cadherin 3.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCGAGTCACAGCCTCGGAT	0.557		NaN											0	0	0	0.000175454	0	19	60				
CHIA	27159	broad.mit.edu	37	1	111853046	111853046	+	Translation_Start_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:111853046C>G	uc001eas.2	+	2	60	c.-43C>G	c.(-45--41)ATCAG>ATGAG		CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Translation_Start_Site|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Translation_Start_Site|CHIA_uc001eau.2_Translation_Start_Site|CHIA_uc009wgd.2_Translation_Start_Site	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c						apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCACAGAATCAGAACATATA	0.408		NaN											0	0	0	0.000219431	0	15	33				
NBPF14	25832	broad.mit.edu	37	1	148004641	148004641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:148004641G>C	uc001eqq.2	-	22	2690	c.2673C>G	c.(2671-2673)ATC>ATG	p.I891M	LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.I239M|NBPF14_uc010pac.1_Missense_Mutation_p.I464M	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	891	NBPF 10.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					GGGCGAAGCTGATATGCTCTT	0.438		NaN											0	0	0	0.000147903	0	158	192				
MTMR11	10903	broad.mit.edu	37	1	149906158	149906158	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:149906158C>T	uc001etl.3	-	7	860	c.609G>A	c.(607-609)GAG>GAA	p.E203E	MTMR11_uc001etm.1_Silent_p.E131E|MTMR11_uc010pbm.1_Silent_p.E175E|MTMR11_uc010pbn.1_Silent_p.E45E	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	203	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCGCTCAGTCTCCCAGTCTT	0.572		NaN											0	0	0	0.000409698	0	32	49				
SELENBP1	8991	broad.mit.edu	37	1	151341538	151341538	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341538G>A	uc001exx.2	-	4	349	c.302C>T	c.(301-303)TCC>TTC	p.S101F	SELENBP1_uc010pcy.1_Missense_Mutation_p.S143F|SELENBP1_uc001exy.2_5'UTR|SELENBP1_uc001exz.2_5'UTR|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_5'UTR|SELENBP1_uc009wmt.2_5'UTR|SELENBP1_uc001eya.2_Missense_Mutation_p.S37F|SELENBP1_uc009wmu.2_5'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	101					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATGCGAGAGGAGATGAGACT	0.592		NaN											0	0	0	0.000319135	0	40	52				
SELENBP1	8991	broad.mit.edu	37	1	151341620	151341620	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:151341620G>C	uc001exx.2	-	4	267	c.220C>G	c.(220-222)CAC>GAC	p.H74D	SELENBP1_uc010pcy.1_Missense_Mutation_p.H116D|SELENBP1_uc001exy.2_Translation_Start_Site|SELENBP1_uc001exz.2_Translation_Start_Site|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_Translation_Start_Site|SELENBP1_uc009wmt.2_Translation_Start_Site|SELENBP1_uc001eya.2_Missense_Mutation_p.H10D|SELENBP1_uc009wmu.2_Translation_Start_Site	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	74					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCCTGAGTGATGCAGCTCG	0.552		NaN											0	0	0	0.00058488	0	32	74				
SPRR1A	6698	broad.mit.edu	37	1	152957821	152957821	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:152957821G>A	uc009wnu.1	+	2	193	c.115G>A	c.(115-117)GAG>AAG	p.E39K	SPRR1A_uc001faw.2_Missense_Mutation_p.E39K	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	39	2.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAACCAAGGAGCCCTGCCA	0.652		NaN											0	0	0	0.000227799	0	30	125				
ARHGEF2	9181	broad.mit.edu	37	1	155931990	155931990	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:155931990G>A	uc001fmt.2	-	10	1243	c.1125C>T	c.(1123-1125)CTC>CTT	p.L375L	ARHGEF2_uc001fmr.2_Silent_p.L347L|ARHGEF2_uc001fms.2_Silent_p.L374L|ARHGEF2_uc001fmu.2_Silent_p.L419L|ARHGEF2_uc010pgt.1_Silent_p.L348L|ARHGEF2_uc010pgu.1_Silent_p.L420L	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	375	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTGCCGCTTGAGCACGGCGG	0.637		NaN											0	0	0	0.000184323	0	25	44				
GPATCH4	54865	broad.mit.edu	37	1	156565923	156565923	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:156565923A>G	uc001fpm.2	-	7	480	c.441T>C	c.(439-441)ATT>ATC	p.I147I	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Silent_p.I142I	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	142						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCAGTCAGACTGTTAGGGG	0.428		NaN											0	0	0	6.4e-05	0	3	113				
COPA	1314	broad.mit.edu	37	1	160267491	160267492	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:160267491_160267492CC>AA	uc009wti.2	-	20	2415_2416	c.2021_2022GG>TT	c.(2020-2022)TGG>TTT	p.W674F	COPA_uc001fvv.3_Missense_Mutation_p.W683F	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	674					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCTTTTCCCAGCAGTTCTT	0.475		NaN											0	0	0	6.4e-05	0	11	278				
FCGR3B	2215	broad.mit.edu	37	1	161599754	161599754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:161599754G>C	uc009wul.2	-	3	407	c.133C>G	c.(133-135)CTG>GTG	p.L45V		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	45	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCACTTCAGAGTCACACTG	0.532		NaN											0	0	0	0.00058488	0	31	308				
SRGAP2	23380	broad.mit.edu	37	1	206623769	206623769	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:206623769C>G	uc001hdy.2	+	16	2210	c.1877C>G	c.(1876-1878)TCA>TGA	p.S626*	SRGAP2_uc010prt.1_Nonsense_Mutation_p.S549*|SRGAP2_uc001hdx.2_Nonsense_Mutation_p.S626*|SRGAP2_uc010pru.1_Nonsense_Mutation_p.S549*|SRGAP2_uc010prv.1_Nonsense_Mutation_p.S550*	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	713					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GTTGAAGACTCAACCCAGGAT	0.552		NaN											0	0	0	6.40141e-05	0	8	23				
IARS2	55699	broad.mit.edu	37	1	220276871	220276871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:220276871G>A	uc001hmc.2	+	8	1137	c.1033G>A	c.(1033-1035)GAA>AAA	p.E345K		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	345					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTCTACTTTGGAAACAACATT	0.358		NaN											0	0	0	0.000184323	0	28	63				
LYST	1130	broad.mit.edu	37	1	235922510	235922510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:235922510C>T	uc001hxj.2	-	23	6818	c.6643G>A	c.(6643-6645)GAT>AAT	p.D2215N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2215					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGACTGTCATCTTCTGACCTG	0.547		NaN							Chediak-Higashi_syndrome				0	0	0	0.000159656	0	35	74				
KIF26B	55083	broad.mit.edu	37	1	245772624	245772624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:245772624C>T	uc001ibf.1	+	8	2148	c.1708C>T	c.(1708-1710)CCC>TCC	p.P570S	KIF26B_uc010pyq.1_Missense_Mutation_p.P570S|KIF26B_uc001ibg.1_Missense_Mutation_p.P188S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	570	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGCATCATTCCCTGTGCCAT	0.532		NaN											0	0	0	6.40141e-05	0	11	18				
OR2G2	81470	broad.mit.edu	37	1	247751675	247751675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751675G>C	uc010pyy.1	+	1	14	c.14G>C	c.(13-15)AGA>ACA	p.R5T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATGGTGAGACATACCAAT	0.413		NaN											0	0	0	0.000491102	0	24	98				
OR2G2	81470	broad.mit.edu	37	1	247751725	247751725	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247751725G>C	uc010pyy.1	+	1	64	c.64G>C	c.(64-66)GAT>CAT	p.D22H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGGTTTTCTGATTATCCTCA	0.413		NaN											0	0	0	0.000147802	0	22	109				
OR2G2	81470	broad.mit.edu	37	1	247752001	247752001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752001G>A	uc010pyy.1	+	1	340	c.340G>A	c.(340-342)GAG>AAG	p.E114K		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGATCCACTGAGTGCGTCCT	0.527		NaN											0	0	0	0.000509022	0	40	122				
OR2G2	81470	broad.mit.edu	37	1	247752462	247752462	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752462G>T	uc010pyy.1	+	1	801	c.801G>T	c.(799-801)AAG>AAT	p.K267N		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			agCCAGCCAAGAGTAGATCCA	0.383		NaN											1	0	1.62957e-23	0.000374591	2.69465e-22	41	145				
OR2G2	81470	broad.mit.edu	37	1	247752580	247752580	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:247752580G>T	uc010pyy.1	+	1	919	c.919G>T	c.(919-921)GTT>TTT	p.V307F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTAAAGAAAGTTCTAGCAAA	0.338		NaN											1	0	2.08457e-15	0.000339439	3.39619e-14	32	117				
FBXO18	84893	broad.mit.edu	37	10	5959443	5959443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:5959443G>C	uc001iis.2	+	11	1944	c.1849G>C	c.(1849-1851)GAA>CAA	p.E617Q	FBXO18_uc001iir.2_Missense_Mutation_p.E543Q|FBXO18_uc009xig.2_Missense_Mutation_p.E543Q|FBXO18_uc001iit.2_Missense_Mutation_p.E668Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	617					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						GGAGTGCACAGAAGAGGCGCA	0.577		NaN											0	0	0	0.00047179	0	22	43				
DCLRE1C	64421	broad.mit.edu	37	10	14974951	14974951	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:14974951G>C	uc001inn.2	-	9	767	c.682C>G	c.(682-684)CAT>GAT	p.H228D	DCLRE1C_uc010qbx.1_Missense_Mutation_p.H228D|DCLRE1C_uc001inl.2_Missense_Mutation_p.H108D|DCLRE1C_uc009xji.2_Missense_Mutation_p.H113D|DCLRE1C_uc001inm.2_Missense_Mutation_p.H108D|DCLRE1C_uc001ino.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inq.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inr.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjj.1_RNA	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	228					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						TTATTCACATGAACCTAAGGC	0.393		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					0	0	0	0.000132079	0	19	171				
CACNB2	783	broad.mit.edu	37	10	18803285	18803285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:18803285C>G	uc001ipr.2	+	7	851	c.791C>G	c.(790-792)CCC>CGC	p.P264R	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.P236R|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.P209R|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.P210R|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.P210R|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.P216R|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	264					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAAAGAATGCCCTTCTTTAAG	0.468		NaN											0	0	0	0.000339439	0	29	142				
SYT15	83849	broad.mit.edu	37	10	46967615	46967615	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:46967615C>T	uc001jea.2	-	4	615	c.462G>A	c.(460-462)TCG>TCA	p.S154S	SYT15_uc001jdz.2_Silent_p.S154S|SYT15_uc001jeb.2_Silent_p.S32S|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	154	Cytoplasmic (Potential).|C2 1.					integral to membrane|plasma membrane					0						CATATTCCACCGAGAACCACA	0.622		NaN											0	0	0	0.000274275	0	9	95				
C10orf81	79949	broad.mit.edu	37	10	115534019	115534019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:115534019G>T	uc001lat.1	+	8	1250	c.688G>T	c.(688-690)GAA>TAA	p.E230*	C10orf81_uc001lar.1_Nonsense_Mutation_p.E236*|C10orf81_uc009xyc.1_Nonsense_Mutation_p.E148*|C10orf81_uc001las.1_Nonsense_Mutation_p.E148*|C10orf81_uc001lau.1_Nonsense_Mutation_p.E50*	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	230										central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TGATTCTGGTGAATCCATTGA	0.378		NaN											1	0	2.47316e-13	0.00058488	3.98229e-12	33	45				
FAM160B1	57700	broad.mit.edu	37	10	116602857	116602857	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602857C>A	uc001lcb.2	+	6	1023	c.688C>A	c.(688-690)CAT>AAT	p.H230N	FAM160B1_uc001lcc.2_Missense_Mutation_p.H230N	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	230										lung(1)	1						TGAGCCTCCTCATCAGATGGA	0.473		NaN											1	0	1.99824e-07	0.000566183	3.17134e-06	18	64				
FAM160B1	57700	broad.mit.edu	37	10	116602895	116602895	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:116602895C>T	uc001lcb.2	+	6	1061	c.726C>T	c.(724-726)CTC>CTT	p.L242L	FAM160B1_uc001lcc.2_Silent_p.L242L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	242										lung(1)	1						TGGATAACCTCAGTGTCACCT	0.438		NaN											0	0	0	0.000175454	0	20	72				
UROS	7390	broad.mit.edu	37	10	127505020	127505020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:127505020C>G	uc001liw.3	-	1	182	c.49G>C	c.(49-51)GAT>CAT	p.D17H	UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_5'Flank|UROS_uc001lix.3_Missense_Mutation_p.D17H|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				ATATACGGATCCTGGCCACAG	0.502		NaN											0	0	0	0.000566183	0	17	91				
OSBPL5	114879	broad.mit.edu	37	11	3111812	3111812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:3111812C>T	uc001lxk.2	-	20	2532	c.2374G>A	c.(2374-2376)GAG>AAG	p.E792K	OSBPL5_uc010qxq.1_Missense_Mutation_p.E703K|OSBPL5_uc009ydw.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxl.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxj.2_Missense_Mutation_p.E246K	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	792					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATCCTGCTCCTCGTCTGAG	0.682		NaN											0	0	0	0.000566183	0	16	33				
SPTY2D1	144108	broad.mit.edu	37	11	18637037	18637037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:18637037C>T	uc001moy.2	-	3	1000	c.784G>A	c.(784-786)GAG>AAG	p.E262K	SPTY2D1_uc010rdi.1_Missense_Mutation_p.E262K	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	262										breast(1)	1						GATTTCTTCTCAGCATGAGGA	0.483		NaN											0	0	0	0.000147903	0	50	33				
BBOX1	8424	broad.mit.edu	37	11	27148986	27148986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:27148986G>A	uc001mre.1	+	9	1518	c.1150G>A	c.(1150-1152)GAG>AAG	p.E384K	BBOX1_uc009yih.1_Missense_Mutation_p.E384K|BBOX1_uc001mrg.1_Missense_Mutation_p.E384K	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	384					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGAGGGTGGAGAATGGAAA	0.413		NaN											0	0	0	0.000132079	0	19	50				
QSER1	79832	broad.mit.edu	37	11	32975498	32975498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:32975498C>G	uc001mty.2	+	5	4153	c.3886C>G	c.(3886-3888)CTC>GTC	p.L1296V	QSER1_uc001mtz.1_Missense_Mutation_p.L1057V|QSER1_uc001mua.2_Missense_Mutation_p.L801V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1296										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					gcaagaacctctccactctac	0.333		NaN											0	0	0	0.000442599	0	9	17				
HIPK3	10114	broad.mit.edu	37	11	33308267	33308267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:33308267C>T	uc001mul.1	+	2	577	c.307C>T	c.(307-309)CAC>TAC	p.H103Y	HIPK3_uc001mum.1_Missense_Mutation_p.H103Y|HIPK3_uc009yjv.1_Missense_Mutation_p.H103Y	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	103					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						ACAGCAAGCTCACGTGCAGGC	0.502		NaN											0	0	0	9.7654e-05	0	19	19				
SPI1	6688	broad.mit.edu	37	11	47397226	47397226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:47397226C>T	uc001nfc.1	-	2	323	c.100G>A	c.(100-102)GAG>AAG	p.E34K	SPI1_uc001nfb.1_Missense_Mutation_p.E35K|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.E28K	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	34					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		GGGTAATACTCGTGCGTTTGG	0.622		NaN											0	0	0	0.000147903	0	44	36				
MS4A3	932	broad.mit.edu	37	11	59828720	59828720	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:59828720G>C	uc001nom.2	+	2	215	c.87G>C	c.(85-87)CTG>CTC	p.L29L	MS4A3_uc001non.2_Silent_p.L29L|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	29	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)				CAGAAGAGCTGAATACTTCTG	0.478		NaN											0	0	0	0.000132358	0	37	70				
CD6	923	broad.mit.edu	37	11	60785351	60785351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:60785351C>T	uc001nqq.2	+	11	1926	c.1703C>T	c.(1702-1704)TCA>TTA	p.S568L	CD6_uc001nqp.2_Missense_Mutation_p.S568L|CD6_uc001nqr.2_Missense_Mutation_p.S536L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.S527L	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	568	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						AGCACCTCTTCAGGGGAGGAT	0.567		NaN											0	0	0	0.000375601	0	22	61				
HRASLS2	54979	broad.mit.edu	37	11	63320520	63320520	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:63320520C>T	uc001nxg.1	-	4	464	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	135					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity				0						CACCTACTGTCGTGACTGCAC	0.562		NaN											0	0	0	9.22233e-05	0	27	95				
PLCB3	5331	broad.mit.edu	37	11	64032897	64032897	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:64032897C>T	uc001nzb.2	+	25	2958	c.2958C>T	c.(2956-2958)GTC>GTT	p.V986V	PLCB3_uc009ypg.1_Silent_p.V986V|PLCB3_uc009yph.1_Silent_p.V919V|PLCB3_uc009ypi.2_Silent_p.V986V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	986					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GGAAGGCAGTCACCCTCACCC	0.682		NaN											0	0	0	3.86212e-05	0	8	19				
SLC29A2	3177	broad.mit.edu	37	11	66134019	66134019	+	Silent	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:66134019G>T	uc001oht.2	-	8	979	c.750C>A	c.(748-750)CCC>CCA	p.P250P	SLC29A2_uc001ohs.2_Silent_p.P130P|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.P130P|SLC29A2_uc001ohu.2_Silent_p.P250P|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	250					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GGGGACTACTGGGAATCCCGT	0.582		NaN											1	0	6.40141e-05	6.40141e-05	0.000982083	10	35				
ANKRD13D	338692	broad.mit.edu	37	11	67059207	67059207	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:67059207C>T	uc001okc.1	+	6	781	c.270C>T	c.(268-270)TTC>TTT	p.F90F	ANKRD13D_uc001okd.1_Silent_p.F177F|ANKRD13D_uc001oke.1_Silent_p.F90F	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	90										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTTCATCTTCAAGGGCCAGG	0.612		NaN											0	0	0	0.000157383	0	7	42				
USP35	57558	broad.mit.edu	37	11	77919932	77919932	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:77919932C>G	uc009yva.1	+	9	1761	c.1515C>G	c.(1513-1515)CTC>CTG	p.L505L	USP35_uc001oze.2_Silent_p.L261L|USP35_uc001ozc.2_Silent_p.L73L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.L116L|USP35_uc001ozf.2_Silent_p.L236L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	505					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGAACTTCCTCTCCGCATCCT	0.622		NaN											0	0	0	0.000147903	0	53	98				
DYNC2H1	79659	broad.mit.edu	37	11	103152912	103152912	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:103152912G>T	uc001pho.2	+	72	10910	c.10766G>T	c.(10765-10767)TGG>TTG	p.W3589L	DYNC2H1_uc001phn.1_Missense_Mutation_p.W3596L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3589					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATAGGAATGGGATACGTTT	0.284		NaN											1	0	5.01169e-05	0.000566183	0.000771019	13	83				
PIH1D2	120379	broad.mit.edu	37	11	111941994	111941994	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:111941994G>A	uc001pmq.3	-	4	397	c.315C>T	c.(313-315)GTC>GTT	p.V105V	PIH1D2_uc009yyl.2_Silent_p.V105V|PIH1D2_uc001pmp.3_Silent_p.V105V|PIH1D2_uc010rws.1_Silent_p.V105V|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	105										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CAACATCAATGACTGTGTAAG	0.358		NaN											0	0	0	0.000191422	0	34	149				
SCN4B	6330	broad.mit.edu	37	11	118023348	118023348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:118023348C>T	uc001pse.2	-	1	283	c.41G>A	c.(40-42)TGG>TAG	p.W14*	SCN4B_uc010rxv.1_Nonsense_Mutation_p.W14*	NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta	14						voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AGTGCCCAGCCATCTCGCCGG	0.662		NaN											0	0	0	3.86212e-05	0	8	19				
PRDM10	56980	broad.mit.edu	37	11	129817136	129817136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr11:129817136C>T	uc001qfm.2	-	5	656	c.424G>A	c.(424-426)GAG>AAG	p.E142K	PRDM10_uc001qfj.2_Missense_Mutation_p.E56K|PRDM10_uc001qfk.2_Missense_Mutation_p.E56K|PRDM10_uc001qfl.2_Missense_Mutation_p.E56K|PRDM10_uc010sbx.1_Missense_Mutation_p.E56K|PRDM10_uc001qfn.2_Missense_Mutation_p.E142K|PRDM10_uc009zct.1_Missense_Mutation_p.E174K	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCAGTGTCCTCGTCCTCATCC	0.582		NaN											0	0	0	0.000228196	0	37	38				
NOP2	4839	broad.mit.edu	37	12	6670928	6670928	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6670928C>T	uc001qph.1	-	11	1277	c.1097G>A	c.(1096-1098)GGA>GAA	p.G366E	NOP2_uc009zeq.1_Missense_Mutation_p.G82E|NOP2_uc001qpi.1_Missense_Mutation_p.G366E|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	370					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GCTGGAGGCTCCCTGCAGCAT	0.607		NaN											0	0	0	0.000274275	0	9	9				
CHD4	1108	broad.mit.edu	37	12	6692229	6692229	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692229C>G	uc001qpo.2	-	27	4275	c.4111G>C	c.(4111-4113)GAG>CAG	p.E1371Q	CHD4_uc001qpn.2_Missense_Mutation_p.E1364Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1396Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1371					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACCTTCCTCTGAAGCCACT	0.498		NaN											0	0	0	0.000229342	0	22	76				
CHD4	1108	broad.mit.edu	37	12	6692529	6692529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:6692529C>G	uc001qpo.2	-	26	4059	c.3895G>C	c.(3895-3897)GAA>CAA	p.E1299Q	CHD4_uc001qpn.2_Missense_Mutation_p.E1292Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1296Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1299	Poly-Glu.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATTTCCCGTTCTACCTCCTCT	0.532		NaN											0	0	0	0.000374591	0	40	166				
DENND5B	160518	broad.mit.edu	37	12	31604993	31604993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:31604993C>T	uc001rki.1	-	5	1696	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K	DENND5B_uc001rkh.1_Missense_Mutation_p.E539K|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.E526K|DENND5B_uc001rkk.1_Missense_Mutation_p.E426K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	504	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GCAAAGACCTCTCGGAGCTGT	0.463		NaN											0	0	0	0.000437636	0	40	136				
RPAP3	79657	broad.mit.edu	37	12	48061621	48061621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:48061621G>C	uc001rpr.2	-	15	1843	c.1727C>G	c.(1726-1728)TCT>TGT	p.S576C	RPAP3_uc010slk.1_Missense_Mutation_p.S417C|RPAP3_uc001rps.2_Missense_Mutation_p.S542C	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	576							binding			ovary(1)	1	Lung SC(27;0.192)					AGGATACAAAGATGGTTCAAT	0.294		NaN											0	0	0	0.000442599	0	9	40				
MLL2	8085	broad.mit.edu	37	12	49420060	49420060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:49420060C>A	uc001rta.3	-	48	15689	c.15689G>T	c.(15688-15690)TGT>TTT	p.C5230F		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5230	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCAATAGAACAGCGATAGCA	0.582		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	5.8336e-16	0.00058488	9.56053e-15	33	47		Valid		
DIP2B	57609	broad.mit.edu	37	12	51074507	51074508	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:51074507_51074508GG>TT	uc001rwv.2	+	9	1323_1324	c.1167_1168GG>TT	c.(1165-1170)CTGGGG>CTTTGG	p.G390W		NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	390						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TTAATAAACTGGGGACCAAAAA	0.342		NaN											0	0	0	6.4e-05	0	12	509				
CSRNP2	81566	broad.mit.edu	37	12	51467662	51467662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:51467662G>A	uc001rxu.1	-	3	653	c.355C>T	c.(355-357)CGA>TGA	p.R119*		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	119					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGAATCTCTCGATGGTTCACC	0.532		NaN											0	0	0	0.000147903	0	52	93				
KRT75	9119	broad.mit.edu	37	12	52822425	52822425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52822425C>T	uc001saj.2	-	6	1160	c.1138G>A	c.(1138-1140)GAG>AAG	p.E380K		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	380	Coil 2.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGTCAATCTCAGCTCTCAGC	0.507		NaN											0	0	0	0.00010058	0	11	54				
KRT71	112802	broad.mit.edu	37	12	52943818	52943818	+	Missense_Mutation	SNP	C	C	G	rs140770876		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:52943818C>G	uc001sao.2	-	2	721	c.651G>C	c.(649-651)AAG>AAC	p.K217N		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	217	Coil 1B.|Rod.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCACCTCTTCTTGTAGTCCT	0.592		NaN											0	0	0	0.000175454	0	19	99				
HNRNPA1	3178	broad.mit.edu	37	12	54675662	54675662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:54675662G>A	uc001sfl.2	+	3	320	c.216G>A	c.(214-216)ATG>ATA	p.M72I	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zng.2_Missense_Mutation_p.M72I|HNRNPA1_uc009znh.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zni.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfn.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.M27I|HNRNPA1_uc009znj.1_Missense_Mutation_p.M27I	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	72	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						ATGCAGCTATGAATGCAAGGC	0.463		NaN											0	0	0	7.07596e-05	0	18	39				
ZBTB39	9880	broad.mit.edu	37	12	57397508	57397508	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57397508G>A	uc001sml.1	-	2	1280	c.1194C>T	c.(1192-1194)TTC>TTT	p.F398F	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						AGGAGAAAAGGAAAATACCAA	0.512		NaN											0	0	0	0.000491102	0	35	44				
TBK1	29110	broad.mit.edu	37	12	64868152	64868152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:64868152G>A	uc001ssc.1	+	6	745	c.683G>A	c.(682-684)CGT>CAT	p.R228H		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	228	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		GAAGGGCCTCGTAGGAATAAA	0.383		NaN											0	0	0	0.000159656	0	35	142				
CHST11	50515	broad.mit.edu	37	12	105151419	105151419	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:105151419G>A	uc001tkx.1	+	4	1188	c.897G>A	c.(895-897)CTG>CTA	p.L299L	CHST11_uc001tky.2_Silent_p.L294L|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	299	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						GCAGCTACCTGAAGTTCCCCA	0.512		NaN											0	0	0	3.86212e-05	0	11	37				
BTBD11	121551	broad.mit.edu	37	12	108034099	108034099	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:108034099C>G	uc001tmk.1	+	13	3270	c.2749C>G	c.(2749-2751)CTT>GTT	p.L917V	BTBD11_uc001tmj.2_Missense_Mutation_p.L917V|BTBD11_uc001tml.1_Missense_Mutation_p.L454V|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	917						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCCTCATTTTCTTAACAATAA	0.348		NaN											0	0	0	0.000151284	0	13	75				
NCOR2	9612	broad.mit.edu	37	12	124968284	124968284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:124968284G>C	uc010tba.1	-	3	386	c.269C>G	c.(268-270)TCA>TGA	p.S90*	NCOR2_uc010tay.1_Nonsense_Mutation_p.S90*|NCOR2_uc010taz.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugk.1_Nonsense_Mutation_p.S90*|uc001ugl.2_RNA	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	90					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCAGGTATGAGTGGGACTC	0.632		NaN											0	0	0	6.4e-05	0	2	6		Valid		
POLR1D	51082	broad.mit.edu	37	13	28239829	28239829	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:28239829G>A	uc001urp.2	+	3	226	c.108G>A	c.(106-108)AAG>AAA	p.K36K	POLR1D_uc010aam.2_Silent_p.K8K|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCAGGATGAAGTGTCCTCTTG	0.403		NaN											0	0	0	0.000422831	0	15	37				
USPL1	10208	broad.mit.edu	37	13	31231851	31231851	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:31231851C>T	uc001utc.2	+	9	2069	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L	USPL1_uc001utd.2_Missense_Mutation_p.S217L|USPL1_uc001ute.1_Missense_Mutation_p.S217L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	546					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAACAGCCTCAGTAACTCAC	0.433		NaN											0	0	0	0.00058488	0	35	118				
POSTN	10631	broad.mit.edu	37	13	38158988	38158988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:38158988C>G	uc001uwo.3	-	8	1091	c.973G>C	c.(973-975)GAA>CAA	p.E325Q	POSTN_uc001uwp.3_Missense_Mutation_p.E325Q|POSTN_uc001uwr.2_Missense_Mutation_p.E325Q|POSTN_uc001uwq.2_Missense_Mutation_p.E325Q|POSTN_uc010teu.1_Missense_Mutation_p.E325Q|POSTN_uc010tev.1_Missense_Mutation_p.E325Q|POSTN_uc010tew.1_Missense_Mutation_p.E325Q|POSTN_uc010tex.1_Missense_Mutation_p.E240Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	325	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTATTTCCTTCCAGCGTCTCA	0.378		NaN											0	0	0	0.000151284	0	12	76				
DGKH	160851	broad.mit.edu	37	13	42742882	42742882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:42742882C>T	uc001uyl.1	+	11	1316	c.1295C>T	c.(1294-1296)TCA>TTA	p.S432L	DGKH_uc010tfh.1_Missense_Mutation_p.S432L|DGKH_uc001uym.1_Missense_Mutation_p.S432L|DGKH_uc010tfi.1_Missense_Mutation_p.S187L|DGKH_uc010tfj.1_Missense_Mutation_p.S287L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.S287L|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	432	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGGGAGGTTCATATGACGAT	0.468		NaN											0	0	0	0.000339439	0	30	116				
PCDH9	5101	broad.mit.edu	37	13	67799716	67799716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:67799716C>T	uc001vik.2	-	2	3549	c.2857G>A	c.(2857-2859)GAC>AAC	p.D953N	PCDH9_uc001vil.2_Missense_Mutation_p.D953N|PCDH9_uc010thl.1_Missense_Mutation_p.D953N|PCDH9_uc001vin.3_Missense_Mutation_p.D953N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	953	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACTGGAGTGTCTGGTTTGAGA	0.512		NaN											0	0	0	0.000270559	0	37	134				
COL4A1	1282	broad.mit.edu	37	13	110864269	110864270	+	Splice_Site	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:110864269_110864270CC>AA	uc001vqw.3	-	7	510	c.388_splice	c.e7-1	p.G130_splice	COL4A1_uc010agl.2_Splice_Site_p.G130_splice	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTCTCTCCCCCTGGGGAGACA	0.53		NaN											0	0	0	6.4e-05	0	10	200				
SOX1	6656	broad.mit.edu	37	13	112722232	112722232	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:112722232C>A	uc001vsb.1	+	1	320	c.260C>A	c.(259-261)GCC>GAC	p.A87D		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	87	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		CGCCTGGGGGCCGAGTGGAAG	0.642		NaN											1	0	1.26484e-09	0.000157383	2.019e-08	6	27				
RPGRIP1	57096	broad.mit.edu	37	14	21780097	21780097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:21780097G>A	uc001wag.2	+	8	1045	c.1045G>A	c.(1045-1047)GAT>AAT	p.D349N		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	349	Potential.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCAACTGGAAGATGTGTCTAT	0.443		NaN											0	0	0	0.000157383	0	7	14				
MYH7	4625	broad.mit.edu	37	14	23884264	23884264	+	Silent	SNP	G	G	A	rs3729831		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:23884264G>A	uc001wjx.2	-	37	5605	c.5499C>T	c.(5497-5499)AAC>AAT	p.N1833N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1833	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGACTCTGCGTTGCGCTTCT	0.652		NaN											0	0	0	0.000147903	0	76	50				
ARHGAP5	394	broad.mit.edu	37	14	32562188	32562188	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:32562188G>A	uc001wrl.2	+	2	2552	c.2313G>A	c.(2311-2313)AAG>AAA	p.K771K	ARHGAP5_uc001wrm.2_Silent_p.K771K|ARHGAP5_uc001wrn.2_Silent_p.K771K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	771					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGCCAATAAGGACTTATCAG	0.398		NaN											0	0	0	0.000132079	0	18	71				
RALGAPA1	253959	broad.mit.edu	37	14	36147182	36147182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36147182G>C	uc001wti.2	-	21	3471	c.3080C>G	c.(3079-3081)TCT>TGT	p.S1027C	RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1027C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1040C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1074C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S925C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1027					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CTGAAGAACAGAGTGGTGGAG	0.433		NaN											0	0	0	7.07596e-05	0	15	37				
RALGAPA1	253959	broad.mit.edu	37	14	36219784	36219784	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:36219784G>A	uc001wti.2	-	9	1306	c.915C>T	c.(913-915)GTC>GTT	p.V305V	RALGAPA1_uc001wtj.2_Silent_p.V305V|RALGAPA1_uc010tpv.1_Silent_p.V305V|RALGAPA1_uc010tpw.1_Silent_p.V305V|RALGAPA1_uc001wtk.1_Silent_p.V156V	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	305					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GCCAACGAATGACAATAACAC	0.418		NaN											0	0	0	0.000219431	0	12	24				
RPL10L	140801	broad.mit.edu	37	14	47120421	47120421	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:47120421G>A	uc001wwg.2	-	1	608	c.519C>T	c.(517-519)TTC>TTT	p.F173F		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	173					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TAAACTTCGTGAAGCCCCACT	0.512		NaN											0	0	0	0.000147903	0	59	58				
C14orf101	54916	broad.mit.edu	37	14	57099827	57099827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr14:57099827C>G	uc001xcm.2	+	13	1784	c.1662C>G	c.(1660-1662)TTC>TTG	p.F554L	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.F87L|C14orf101_uc001xco.2_Missense_Mutation_p.F87L	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	554						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AGATTGTATTCAACCCTGAGG	0.373		NaN											0	0	0	0.000374591	0	42	24				
FMN1	342184	broad.mit.edu	37	15	33192256	33192257	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:33192256_33192257CC>AA	uc001zhf.3	-	10	2908_2909	c.2908_2909GG>TT	c.(2908-2910)GGA>TTA	p.G970L		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1193	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTATTTCCTCCATTCATATAA	0.411		NaN											0	0	0	6.4e-05	0	10	287				
RTF1	23168	broad.mit.edu	37	15	41749923	41749923	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:41749923T>A	uc001zny.2	+	4	523	c.511T>A	c.(511-513)TCT>ACT	p.S171T		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	171	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGATTCAGACTCTTCCTCAGA	0.478		NaN											0	0	0	0.000319135	0	41	153				
CDAN1	146059	broad.mit.edu	37	15	43026452	43026452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43026452C>T	uc001zql.2	-	7	1346	c.1229G>A	c.(1228-1230)CGA>CAA	p.R410Q	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	410						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ATAGGCAGCTCGAAGGCGGCC	0.557		NaN											0	0	0	0.000175454	0	20	57				
UBR1	197131	broad.mit.edu	37	15	43360220	43360220	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:43360220C>G	uc001zqq.2	-	6	740	c.674G>C	c.(673-675)AGA>ACA	p.R225T	UBR1_uc010udk.1_Missense_Mutation_p.R225T	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	225					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAATAGTATCTTTCATTTTT	0.289		NaN											0	0	0	0.000184323	0	23	93				
DYX1C1	161582	broad.mit.edu	37	15	55790518	55790518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790518G>A	uc002adc.2	-	2	378	c.10C>T	c.(10-12)CAG>TAG	p.Q4*	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Nonsense_Mutation_p.Q4*|DYX1C1_uc002add.2_Nonsense_Mutation_p.Q4*	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	4	CS.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TCGCTAACCTGAAGAGGCATT	0.592		NaN											0	0	0	0.000602214	0	5	22				
CCPG1	9236	broad.mit.edu	37	15	55790547	55790547	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:55790547G>C	uc002acy.2	-	1	236	c.-1181C>G	c.(-1183--1179)ATCCG>ATGCG		DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Translation_Start_Site|DYX1C1_uc002adc.2_Translation_Start_Site|DYX1C1_uc002add.2_Translation_Start_Site	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		AACGGGAGCGGATAGCGCGGC	0.632		NaN											0	0	0	6.4e-05	0	3	20				
ADAM10	102	broad.mit.edu	37	15	58919991	58919991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:58919991G>A	uc002afd.1	-	10	1712	c.1268C>T	c.(1267-1269)TCT>TTT	p.S423F	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S122F|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	423	Peptidase M12B.|Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		TTTGTCCCCAGATGTTGCTCT	0.353		NaN											0	0	0	0.000295444	0	22	66				
PIF1	80119	broad.mit.edu	37	15	65114716	65114716	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:65114716C>T	uc002ant.2	-	3	718	c.652G>A	c.(652-654)GTC>ATC	p.V218I	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.V218I|PIF1_uc002anu.2_Missense_Mutation_p.V218I	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	218	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CCTTTCAGGACGGCCCTCAGC	0.622		NaN											0	0	0	0.00010058	0	11	30				
LCTL	197021	broad.mit.edu	37	15	66845521	66845521	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:66845521T>G	uc002aqc.2	-	9	1130	c.998A>C	c.(997-999)AAA>ACA	p.K333T	LCTL_uc002aqd.3_Missense_Mutation_p.K160T|LCTL_uc010bhw.2_Missense_Mutation_p.K31T	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	333	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						GGATGTGCCTTTAATGTAGCT	0.488		NaN											0	0	0	0.000147903	0	51	200				
LINGO1	84894	broad.mit.edu	37	15	77907318	77907318	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:77907318G>T	uc002bct.1	-	2	983	c.931C>A	c.(931-933)CTC>ATC	p.L311I	LINGO1_uc002bcu.1_Missense_Mutation_p.L305I	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	311	Extracellular (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						TGCAGCCGGAGCAGCTCATGC	0.627		NaN											1	0	0.000219431	0.000219431	0.00335712	15	69				
C15orf42	90381	broad.mit.edu	37	15	90169198	90169198	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr15:90169198G>C	uc002boe.2	+	21	5508	c.5508G>C	c.(5506-5508)CGG>CGC	p.R1836R	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1836					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGCCGTGCGGAGCTGCCTCT	0.617		NaN											0	0	0	0.000422831	0	16	32				
MLST8	64223	broad.mit.edu	37	16	2256193	2256193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2256193G>A	uc002coz.2	+	2	226	c.107G>A	c.(106-108)CGG>CAG	p.R36Q	MLST8_uc002coy.2_Missense_Mutation_p.R36Q|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R36Q|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R36Q|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R36Q|MLST8_uc010uvy.1_Missense_Mutation_p.R36Q|MLST8_uc002cpg.2_Missense_Mutation_p.R55Q|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R36Q	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	36	WD 1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						ATCTGCACCCGGACGGTGCAG	0.701		NaN											0	0	0	0.000422831	0	16	46				
CCNF	899	broad.mit.edu	37	16	2485829	2485829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:2485829G>A	uc002cqd.1	+	4	389	c.301G>A	c.(301-303)GAA>AAA	p.E101K	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	101					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				GGGGAATTTCGAAGCTGCTGT	0.458		NaN											0	0	0	0.000308642	0	16	47				
CREBBP	1387	broad.mit.edu	37	16	3828129	3828129	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:3828129C>G	uc002cvv.2	-	10	2200	c.1996G>C	c.(1996-1998)GAA>CAA	p.E666Q	CREBBP_uc002cvw.2_Missense_Mutation_p.E628Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	666	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGTTTTTCTTCTAGTTCTTTT	0.403		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.000147903	0	104	64		Valid		
KIAA0430	9665	broad.mit.edu	37	16	15727580	15727580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:15727580C>G	uc002ddr.2	-	5	1320	c.1127G>C	c.(1126-1128)AGA>ACA	p.R376T	KIAA0430_uc002ddq.2_Missense_Mutation_p.R375T|KIAA0430_uc010uzv.1_Missense_Mutation_p.R372T|KIAA0430_uc010uzw.1_Missense_Mutation_p.R375T	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	375						peroxisome	nucleotide binding|RNA binding				0						CTCACGGATTCTTTGCACAAC	0.428		NaN											0	0	0	0.000147903	0	50	196				
GGA2	23062	broad.mit.edu	37	16	23491968	23491968	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:23491968C>G	uc002dlq.2	-	10	1080	c.1004G>C	c.(1003-1005)AGA>ACA	p.R335T	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	335	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		AAACATACCTCTGGAGACAGG	0.498		NaN											0	0	0	0.000147802	0	29	24				
ITGAL	3683	broad.mit.edu	37	16	30510399	30510399	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:30510399C>T	uc002dyi.3	+	16	2013	c.1837C>T	c.(1837-1839)CGG>TGG	p.R613W	ITGAL_uc002dyj.3_Missense_Mutation_p.R530W|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	613	FG-GAP 7.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CTGCAGCTCCCGGCCCGTGGT	0.572		NaN											0	0	0	8.12818e-05	0	7	25				
CNOT1	23019	broad.mit.edu	37	16	58572154	58572154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:58572154G>A	uc002env.2	-	37	5445	c.5152C>T	c.(5152-5154)CGA>TGA	p.R1718*	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.R1713*|CNOT1_uc010vik.1_Nonsense_Mutation_p.R675*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1718					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATTCATCTCGACATTCAATT	0.373		NaN											0	0	0	0.000422831	0	16	45				
HSD17B2	3294	broad.mit.edu	37	16	82131777	82131777	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:82131777C>T	uc002fgv.2	+	5	1072	c.900C>T	c.(898-900)ATC>ATT	p.I300I		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	300					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	AGGACTACATCTTAGCACAGC	0.542		NaN											0	0	0	0.000491102	0	30	40				
FAM57A	79850	broad.mit.edu	37	17	643751	643751	+	Missense_Mutation	SNP	C	C	T	rs144403190		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:643751C>T	uc002frp.2	+	4	456	c.415C>T	c.(415-417)CGG>TGG	p.R139W	FAM57A_uc002frq.2_Intron|FAM57A_uc002frr.2_Missense_Mutation_p.R49W	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	139	TLC.					integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GCAGAGGCTCCGGGGAGACCT	0.517		NaN											0	0	0	0.000602214	0	5	95				
USP6	9098	broad.mit.edu	37	17	5041030	5041030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:5041030C>G	uc002gau.1	+	20	3140	c.910C>G	c.(910-912)CTT>GTT	p.L304V	USP6_uc002gav.1_Missense_Mutation_p.L304V|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	304					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						CAGCATTGCTCTTAAGGTTCA	0.587		NaN	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								0	0	0	0.000147903	0	58	41				
TMEM102	284114	broad.mit.edu	37	17	7339584	7339584	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:7339584G>C	uc002ggx.1	+	3	559	c.286G>C	c.(286-288)GAG>CAG	p.E96Q	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.E96Q	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	96	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				TGGGATTCGCGAGGGCTCCCT	0.617		NaN											0	0	0	9.7654e-05	0	18	15				
MYH10	4628	broad.mit.edu	37	17	8396109	8396109	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:8396109C>T	uc002gll.2	-	31	4446	c.4350G>A	c.(4348-4350)CAG>CAA	p.Q1450Q	MYH10_uc002glm.2_Silent_p.Q1481Q|MYH10_uc010cnx.2_Silent_p.Q1459Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1450	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAAACTTCTTCTGCTTCTTCT	0.517		NaN											0	0	0	8.12818e-05	0	7	27				
MYH3	4621	broad.mit.edu	37	17	10558329	10558330	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:10558329_10558330CG>AT	uc002gmq.1	-	2	129_130	c.52_53CG>AT	c.(52-54)CGG>ATG	p.R18M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	18	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTGACTTCCGGAGGAAAGGA	0.53		NaN											0	0	0	6.4e-05	0	6	107				
TMEM97	27346	broad.mit.edu	37	17	26646275	26646275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646275C>G	uc002hat.2	+	1	155	c.10C>G	c.(10-12)CCG>GCG	p.P4A		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	4	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TATGGGGGCTCCGGCAACCAG	0.677		NaN											0	0	0	8.12818e-05	0	6	25				
TMEM97	27346	broad.mit.edu	37	17	26646322	26646322	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26646322C>T	uc002hat.2	+	1	202	c.57C>T	c.(55-57)CTC>CTT	p.L19L		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	19	Helical; (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTACTTCCTCAGCCACATCC	0.672		NaN											0	0	0	6.40141e-05	0	10	19				
SEBOX	645832	broad.mit.edu	37	17	26691931	26691931	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:26691931G>A	uc010wai.1	-	2	170	c.156C>T	c.(154-156)TTC>TTT	p.F52F	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Silent_p.F51F|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	52	Homeobox.				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCCCTTTGCTGAAGGTGGTCC	0.637		NaN											0	0	0	0.000157383	0	8	16				
LIG3	3980	broad.mit.edu	37	17	33310224	33310224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33310224G>A	uc002hik.1	+	2	308	c.200G>A	c.(199-201)CGT>CAT	p.R67H	LIG3_uc002hii.2_Missense_Mutation_p.R67H|LIG3_uc002hij.2_Missense_Mutation_p.R67H|LIG3_uc010cth.1_Missense_Mutation_p.R76H	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	67					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CTAAGATCACGTGCCACCTAC	0.517		NaN						Other_BER_factors					0	0	0	0.000228196	0	38	77				
SLFN13	146857	broad.mit.edu	37	17	33768156	33768156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33768156G>A	uc002hjk.1	-	4	2482	c.2152C>T	c.(2152-2154)CTC>TTC	p.L718F	SLFN13_uc010wch.1_Missense_Mutation_p.L718F|SLFN13_uc002hjl.2_Missense_Mutation_p.L718F|SLFN13_uc010ctt.2_Missense_Mutation_p.L400F|SLFN13_uc002hjm.2_Missense_Mutation_p.L387F	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	718						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTGCTGAGAGAGGGGGAAGG	0.438		NaN											0	0	0	0.000339439	0	33	207				
PEX12	5193	broad.mit.edu	37	17	33902981	33902981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:33902981C>T	uc002hjp.2	-	3	1516	c.900G>A	c.(898-900)ATG>ATA	p.M300I		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	300	Cytoplasmic (Potential).				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACACAGTCTTCATTTTGGGTA	0.458		NaN											0	0	0	0.000375601	0	24	98				
MRM1	79922	broad.mit.edu	37	17	34964825	34964825	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:34964825G>C	uc002hne.2	+	5	1251	c.1036G>C	c.(1036-1038)GAG>CAG	p.E346Q	MRM1_uc002hnf.2_Missense_Mutation_p.E151Q	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	346					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCAGGCCCAGAGAAAGAGAG	0.622		NaN											0	0	0	9.22233e-05	0	24	62				
CDK12	51755	broad.mit.edu	37	17	37627781	37627781	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:37627781C>T	uc010cvv.2	+	2	2282	c.1696C>T	c.(1696-1698)CTG>TTG	p.L566L	CDK12_uc010wef.1_Silent_p.L565L|CDK12_uc002hrw.3_Silent_p.L566L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	566					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GCAACCACCTCTGCCTCCTTC	0.547		NaN								TCGA Ovarian(9;0.13)			0	0	0	0.000147903	0	71	259				
DBF4B	80174	broad.mit.edu	37	17	42828543	42828543	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42828543C>T	uc002ihf.2	+	14	1983	c.1770C>T	c.(1768-1770)CTC>CTT	p.L590L	DBF4B_uc010wjc.1_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	590					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				TTGGACATCTCTGCCAGGCCA	0.552		NaN											0	0	0	0.000147903	0	46	42				
ADAM11	4185	broad.mit.edu	37	17	42850284	42850284	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42850284C>T	uc002ihh.2	+	9	738	c.738C>T	c.(736-738)ATC>ATT	p.I246I	ADAM11_uc010wjd.1_Silent_p.I46I	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	246	Extracellular (Potential).|Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				TAATTGTGATCAACGACCACC	0.612		NaN											0	0	0	0.000274275	0	9	29				
EFTUD2	9343	broad.mit.edu	37	17	42942371	42942371	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:42942371C>T	uc002ihn.2	-	14	1473	c.1212G>A	c.(1210-1212)ACG>ACA	p.T404T	EFTUD2_uc010wje.1_Silent_p.T369T|EFTUD2_uc010wjf.1_Silent_p.T394T	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547		NaN									OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000566183	0	18	83				
MKS1	54903	broad.mit.edu	37	17	56288082	56288082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:56288082G>A	uc002ivr.1	-	11	1037	c.962C>T	c.(961-963)TCA>TTA	p.S321L	MKS1_uc010wnq.1_Missense_Mutation_p.S118L|MKS1_uc002ivs.1_Missense_Mutation_p.S321L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	321	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						GCCTTGGGCTGAAACTACGAG	0.438		NaN											0	0	0	0.000279167	0	29	59				
MED13	9969	broad.mit.edu	37	17	60069976	60069976	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:60069976C>A	uc002izo.2	-	11	2265	c.2188G>T	c.(2188-2190)GAT>TAT	p.D730Y		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	730					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GATGTCCCATCTTCTACCTGC	0.239		NaN											1	0	3.09899e-07	0.000274275	4.90421e-06	9	52				
DDX5	1655	broad.mit.edu	37	17	62496163	62496163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:62496163G>A	uc002jek.2	-	13	1970	c.1723C>T	c.(1723-1725)CAG>TAG	p.Q575*	POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Q575*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q470*|DDX5_uc010wqa.1_Nonsense_Mutation_p.Q496*	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	575					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGTATTGCTGAGTGCTATCA	0.418		NaN	T	ETV4	prostate								0	0	0	0.00058488	0	36	51				
SLC25A19	60386	broad.mit.edu	37	17	73282772	73282772	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:73282772G>C	uc002jns.3	-	1	984	c.74C>G	c.(73-75)TCT>TGT	p.S25C	SLC25A19_uc010dge.2_Missense_Mutation_p.S25C|SLC25A19_uc002jnv.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnu.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnw.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnt.3_Missense_Mutation_p.S25C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	25	Helical; Name=1; (Potential).|Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AACAAGTCCAGACACAGACCC	0.537		NaN											0	0	0	0.00024832	0	4	56				
RECQL5	9400	broad.mit.edu	37	17	73658835	73658836	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr17:73658835_73658836CC>AA	uc010dgl.2	-	4	650_651	c.494_495GG>TT	c.(493-495)TGG>TTT	p.W165F	RECQL5_uc010dgk.2_Missense_Mutation_p.W138F|RECQL5_uc002jpb.1_Missense_Mutation_p.W165F|RECQL5_uc002joz.3_Missense_Mutation_p.W165F|RECQL5_uc002jpa.3_Missense_Mutation_p.W165F	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	165	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTCATGCCCCCATTGGGAAAC	0.609		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	6.4e-05	0	10	180				
MYOM1	8736	broad.mit.edu	37	18	3129298	3129298	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:3129298G>T	uc002klp.2	-	18	3060	c.2726C>A	c.(2725-2727)CCG>CAG	p.P909Q	MYOM1_uc002klq.2_Intron	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	909						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CTGTGGTGGCGGGGTAAGCTC	0.493		NaN									OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.000602214	0.000602214	0.00908751	5	75				
DTNA	1837	broad.mit.edu	37	18	32438313	32438313	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:32438313G>C	uc010dmn.1	+	15	1517	c.1516G>C	c.(1516-1518)GAG>CAG	p.E506Q	DTNA_uc010xbx.1_Missense_Mutation_p.E256Q|DTNA_uc002kxv.3_Missense_Mutation_p.E449Q|DTNA_uc002kxw.2_Missense_Mutation_p.E449Q|DTNA_uc010dmj.2_Missense_Mutation_p.E446Q|DTNA_uc002kxz.2_Missense_Mutation_p.E446Q|DTNA_uc002kxy.2_Missense_Mutation_p.E446Q|DTNA_uc010dml.2_Missense_Mutation_p.E446Q|DTNA_uc002kyb.3_Missense_Mutation_p.E503Q|DTNA_uc010dmm.2_Missense_Mutation_p.E506Q|DTNA_uc010xby.1_Missense_Mutation_p.E196Q|DTNA_uc010dmo.2_Missense_Mutation_p.E128Q|DTNA_uc002kyd.3_Missense_Mutation_p.E128Q|DTNA_uc010xbz.1_Missense_Mutation_p.E215Q|DTNA_uc010xca.1_Missense_Mutation_p.E158Q|DTNA_uc002kye.2_Missense_Mutation_p.E154Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	506	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						GCCCACGCCAGAGAAGGCACA	0.512		NaN											0	0	0	0.000117367	0	25	22				
CD226	10666	broad.mit.edu	37	18	67614163	67614163	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67614163G>T	uc010dqo.2	-	2	636	c.189C>A	c.(187-189)TTC>TTA	p.F63L	CD226_uc002lkm.3_Missense_Mutation_p.F63L	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	63	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				GAGTAGGGCTGAAAATGGCTA	0.453		NaN											1	0	1.75199e-13	0.000184323	2.8293e-12	28	22				
SOCS6	9306	broad.mit.edu	37	18	67992477	67992477	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr18:67992477G>A	uc002lkr.1	+	2	889	c.573G>A	c.(571-573)CTG>CTA	p.L191L	SOCS6_uc010dqq.2_Silent_p.L191L	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	191					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATTCACTGAAGAGCTCGG	0.522		NaN											0	0	0	9.22233e-05	0	25	65				
GZMM	3004	broad.mit.edu	37	19	549010	549010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:549010G>A	uc002low.1	+	4	482	c.437G>A	c.(436-438)AGC>AAC	p.S146N		NM_005317	NP_005308	P51124	GRAM_HUMAN	granzyme M precursor	146	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGGTGCAGCATGGCCGGC	0.682		NaN											0	0	0	3.59834e-05	0	6	19				
STAP2	55620	broad.mit.edu	37	19	4333712	4333712	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:4333712C>A	uc002mab.2	-	3	373	c.276G>T	c.(274-276)CGG>CGT	p.R92R	STAP2_uc002mac.2_Silent_p.R92R|STAP2_uc002mad.2_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	92	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGATCCCGGAGAATCA	0.547		NaN											1	0	3.59834e-05	3.59834e-05	0.000558247	6	41				
PRR22	163154	broad.mit.edu	37	19	5784138	5784138	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:5784138G>C	uc002mdb.1	-	1	473	c.114C>G	c.(112-114)CCC>CCG	p.P38P	PRR22_uc010xiv.1_Intron	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	38											0						GGGCCTGTTTGGGAGATGCCA	0.637		NaN											0	0	0	0.000566183	0	16	137				
MUC16	94025	broad.mit.edu	37	19	9059205	9059205	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:9059205C>T	uc002mkp.2	-	3	28445	c.28241G>A	c.(28240-28242)AGA>AAA	p.R9414K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9416	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCAGGACCTCTGCTCATAGG	0.512		NaN											0	0	0	0.000147903	0	47	100				
ZNF791	163049	broad.mit.edu	37	19	12738664	12738664	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:12738664A>G	uc002mua.2	+	4	483	c.321A>G	c.(319-321)AAA>AAG	p.K107K	ZNF791_uc010xml.1_Silent_p.K75K|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	107	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TCTGTGGAAAAGCCTTCATGC	0.433		NaN											0	0	0	0.00024832	0	4	231				
ZSWIM4	65249	broad.mit.edu	37	19	13919937	13919937	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:13919937C>G	uc002mxh.1	+	5	1104	c.915C>G	c.(913-915)CTC>CTG	p.L305L	ZSWIM4_uc010xng.1_Silent_p.L111L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	305							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGATTCTCATGACCGAGC	0.697		NaN											0	0	0	0.000308642	0	15	42				
PGLYRP2	114770	broad.mit.edu	37	19	15586931	15586931	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15586931C>A	uc002nbf.3	-	2	683	c.550G>T	c.(550-552)GAT>TAT	p.D184Y	PGLYRP2_uc002nbg.3_Missense_Mutation_p.D184Y	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	184					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GCTCCAATATCTGCAGTGGTG	0.542		NaN											1	0	2.39187e-15	0.000132079	3.88539e-14	21	137				
PGLYRP2	114770	broad.mit.edu	37	19	15587202	15587202	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587202C>G	uc002nbf.3	-	2	412	c.279G>C	c.(277-279)CTG>CTC	p.L93L	PGLYRP2_uc002nbg.3_Silent_p.L93L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	93					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						CCTCCTTGGTCAGGCCTAACA	0.617		NaN											0	0	0	0.000274275	0	8	58				
PGLYRP2	114770	broad.mit.edu	37	19	15587364	15587364	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:15587364C>T	uc002nbf.3	-	2	250	c.117G>A	c.(115-117)CAG>CAA	p.Q39Q	PGLYRP2_uc002nbg.3_Silent_p.Q39Q	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	39					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						CTGGCACTTTCTGCTCCAGCT	0.602		NaN											0	0	0	0.000602214	0	4	25				
COMP	1311	broad.mit.edu	37	19	18895873	18895873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:18895873C>G	uc002nke.2	-	16	1783	c.1747G>C	c.(1747-1749)GAG>CAG	p.E583Q	COMP_uc002nkd.2_Missense_Mutation_p.E550Q|COMP_uc010xqj.1_Missense_Mutation_p.E530Q	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	583	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						AACGTGCCCTCGAAGTCCACG	0.582		NaN											0	0	0	0.000151284	0	11	72				
FBL	2091	broad.mit.edu	37	19	40329725	40329725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:40329725C>T	uc002omn.2	-	5	613	c.499G>A	c.(499-501)GGG>AGG	p.G167R	FBL_uc002omm.1_Missense_Mutation_p.G81R|FBL_uc002omo.2_Missense_Mutation_p.G166R|FBL_uc010egr.2_Missense_Mutation_p.G167R	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	167					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GAGGCAGCCCCGAGGTAGAGA	0.602		NaN											0	0	0	7.07596e-05	0	19	70				
SPTBN4	57731	broad.mit.edu	37	19	41025918	41025918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41025918G>A	uc002ony.2	+	16	3600	c.3514G>A	c.(3514-3516)GAG>AAG	p.E1172K	SPTBN4_uc002onx.2_Missense_Mutation_p.E1172K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1172K|SPTBN4_uc010egx.2_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1172	Spectrin 9.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTAGACGAGTGGCTGCC	0.682		NaN											0	0	0	3.86212e-05	0	9	24				
ATP5SL	55101	broad.mit.edu	37	19	41944170	41944170	+	Silent	SNP	C	C	T	rs118187504	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:41944170C>T	uc002oqw.1	-	2	174	c.168G>A	c.(166-168)AGG>AGA	p.R56R	CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Silent_p.R62R|ATP5SL_uc010xwa.1_Silent_p.R62R|ATP5SL_uc002oqx.1_Silent_p.R56R|ATP5SL_uc002oqy.1_Silent_p.R56R|ATP5SL_uc002oqz.1_Silent_p.R56R|ATP5SL_uc002ora.1_Silent_p.R43R|ATP5SL_uc010xwb.1_Silent_p.R62R	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN	ATP5S-like	56										large_intestine(1)|breast(1)	2						GCAAGTAATCCCTCAGAGCCT	0.537		NaN											0	0	0	0.000147903	0	53	140				
CBLC	23624	broad.mit.edu	37	19	45296769	45296769	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:45296769G>A	uc002ozs.2	+	8	1239	c.1176G>A	c.(1174-1176)GAG>GAA	p.E392E	CBLC_uc010ejt.2_Silent_p.E346E	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	392					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCCGCTGCGAGATCAAGGGCT	0.637		NaN	M		AML								0	0	0	0.000442599	0	8	15				
TMEM143	55260	broad.mit.edu	37	19	48866581	48866581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:48866581G>C	uc002pix.1	-	2	240	c.231C>G	c.(229-231)TTC>TTG	p.F77L	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Missense_Mutation_p.F77L|TMEM143_uc010xzn.1_Missense_Mutation_p.F77L|TMEM143_uc010elw.1_Missense_Mutation_p.F77L|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.F77L|TMEM143_uc010xzq.1_Missense_Mutation_p.F77L|SYNGR4_uc002piz.2_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	77						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCTCCTTGGAGAAGGGAATGA	0.652		NaN											0	0	0	0.00024832	0	4	44				
PLEKHA4	57664	broad.mit.edu	37	19	49362856	49362856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:49362856C>T	uc002pkx.2	-	7	1113	c.562G>A	c.(562-564)GAG>AAG	p.E188K	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.E188K	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	188	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ATGCGCCCCTCTTCCCCTCTG	0.677		NaN											0	0	0	3.59834e-05	0	5	34				
NR1H2	7376	broad.mit.edu	37	19	50881040	50881040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:50881040G>A	uc010enw.2	+	4	370	c.94G>A	c.(94-96)GAG>AAG	p.E32K	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E32K|NR1H2_uc002psa.3_Missense_Mutation_p.E32K	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	32					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CACTGTAAAGGAGGAGGGTCC	0.647		NaN											0	0	0	3.86212e-05	0	10	51				
ZNF611	81856	broad.mit.edu	37	19	53209076	53209076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:53209076G>C	uc002pzz.2	-	7	1549	c.1232C>G	c.(1231-1233)TCA>TGA	p.S411*	ZNF611_uc010eqc.2_Nonsense_Mutation_p.S341*|ZNF611_uc010ydo.1_Nonsense_Mutation_p.S341*|ZNF611_uc010ydr.1_Nonsense_Mutation_p.S342*|ZNF611_uc010ydp.1_Nonsense_Mutation_p.S411*|ZNF611_uc010ydq.1_Nonsense_Mutation_p.S411*|ZNF611_uc002qaa.3_Nonsense_Mutation_p.S341*	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	411	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGCCAGCTGTGAATGCCACGT	0.403		NaN											0	0	0	0.000147903	0	52	82				
CACNG8	59283	broad.mit.edu	37	19	54485522	54485522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr19:54485522G>C	uc002qcs.1	+	4	800	c.694G>C	c.(694-696)GAG>CAG	p.E232Q	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	233					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.577		NaN											0	0	0	0.000602214	0	4	6				
PKDCC	91461	broad.mit.edu	37	2	42282449	42282449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:42282449G>C	uc002rsg.2	+	5	1317	c.1138G>C	c.(1138-1140)GAG>CAG	p.E380Q		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	380	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GGGGGTGGACGAGACCCTGGC	0.647		NaN											0	0	0	0.000442599	0	9	43				
INPP4A	3631	broad.mit.edu	37	2	99182196	99182196	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:99182196C>G	uc002syy.2	+	21	2654	c.2261C>G	c.(2260-2262)TCC>TGC	p.S754C	INPP4A_uc010yvj.1_Missense_Mutation_p.S715C|INPP4A_uc010yvk.1_Missense_Mutation_p.S715C|INPP4A_uc002syx.2_Missense_Mutation_p.S749C|INPP4A_uc010fik.2_Missense_Mutation_p.S83C	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	754					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TCCAGCGCCTCCGCAGACATG	0.517		NaN											0	0	0	0.000319135	0	35	57				
RABL2A	11159	broad.mit.edu	37	2	114399705	114399705	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:114399705G>A	uc002tkn.3	+	9	900	c.686G>A	c.(685-687)TGA>TAA	p.*229*	RABL2A_uc010flb.2_Silent_p.*229*|RABL2A_uc002tkl.3_Silent_p.*148*|RABL2A_uc002tkm.3_Silent_p.*166*|RABL2A_uc002tks.3_Silent_p.*230*|RABL2A_uc002tkr.2_Silent_p.*230*|RABL2A_uc002tkp.3_Intron	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	229					small GTPase mediated signal transduction		GTP binding|GTPase activity			skin(1)	1						CCCCACAGCTGAGGGGCTGGG	0.572		NaN											0	0	0	0.00010058	0	12	41				
RALB	5899	broad.mit.edu	37	2	121043653	121043653	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:121043653A>G	uc002tmk.2	+	3	508	c.318A>G	c.(316-318)GAA>GAG	p.E106E	RALB_uc010yys.1_Silent_p.E128E|RALB_uc002tml.2_Silent_p.E127E|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				CAACTGCCGAATTCAGGTATG	0.438		NaN											0	0	0	6.4e-05	0	3	79				
NCKAP5	344148	broad.mit.edu	37	2	133543046	133543046	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:133543046G>C	uc002ttp.2	-	14	1712	c.1338C>G	c.(1336-1338)CTC>CTG	p.L446L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	446							protein binding				0						GATACTCCTTGAGGCTGCTAC	0.458		NaN											0	0	0	0.000151284	0	14	44				
GPD2	2820	broad.mit.edu	37	2	157406241	157406241	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:157406241G>A	uc002tzf.3	+	7	1143	c.783G>A	c.(781-783)GGG>GGA	p.G261G	GPD2_uc010zch.1_Silent_p.G34G|GPD2_uc002tzd.3_Silent_p.G261G|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	261					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						CCCAGACAGGGAAAGTGCGTG	0.522		NaN											0	0	0	0.000157383	0	7	18				
SCN3A	6328	broad.mit.edu	37	2	165952024	165952024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:165952024C>G	uc002ucx.2	-	25	4920	c.4428G>C	c.(4426-4428)AAG>AAC	p.K1476N	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.K1427N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1427N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1476						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TACTTATCTTCTTTTTCTGCT	0.338		NaN											0	0	0	0.000151284	0	13	53				
NAB1	4664	broad.mit.edu	37	2	191524441	191524441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:191524441C>T	uc002usb.2	+	4	1111	c.539C>T	c.(538-540)TCC>TTC	p.S180F	NAB1_uc010fsc.2_Missense_Mutation_p.S180F|NAB1_uc010fsd.2_Missense_Mutation_p.S180F|NAB1_uc002usc.2_Missense_Mutation_p.S180F|NAB1_uc010zgh.1_Missense_Mutation_p.S180F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	180					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GACCTGGGCTCCCCCGCGTCC	0.632		NaN											0	0	0	3.59834e-05	0	6	13				
CXCR1	3577	broad.mit.edu	37	2	219029263	219029263	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:219029263G>A	uc002vhc.2	-	2	791	c.672C>T	c.(670-672)TTC>TTT	p.F224F		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	224	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						TACGCAGGGTGAATCCATAGC	0.542		NaN											0	0	0	0.000147802	0	29	98				
PSMD1	5707	broad.mit.edu	37	2	231947596	231947596	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:231947596G>C	uc002vrn.1	+	13	1545	c.1414_splice	c.e13-1	p.I472_splice	PSMD1_uc002vrm.1_Splice_Site_p.I472_splice|PSMD1_uc010fxu.1_Splice_Site_p.I336_splice	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTTTCCTTAGATCGTTAGAC	0.368		NaN											0	0	0	0.000308642	0	13	43				
DNAJB3	414061	broad.mit.edu	37	2	234652280	234652280	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:234652280C>T	uc002vuz.2	-	1	382	c.283G>A	c.(283-285)GAC>AAC	p.D95N	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	95					protein folding		heat shock protein binding|unfolded protein binding				0						TCGGCTGGGTCGCGGAAGCTG	0.627		NaN											0	0	0	0.000132079	0	17	56				
RBM44	375316	broad.mit.edu	37	2	238726844	238726844	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr2:238726844A>G	uc002vxi.3	+	3	1417	c.1285A>G	c.(1285-1287)ACG>GCG	p.T429A		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	428							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAAGATAATACGTCCCTAAA	0.373		NaN											0	0	0	0.000219431	0	14	38				
SOX12	6666	broad.mit.edu	37	20	306839	306839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:306839C>T	uc002wdh.2	+	1	601	c.271C>T	c.(271-273)CGG>TGG	p.R91W		NM_006943	NP_008874	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	91	HMG box.				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding				0		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCCGTTCGTGCGGGAGGCGGA	0.567		NaN											0	0	0	3.59834e-05	0	6	30				
IDH3B	3420	broad.mit.edu	37	20	2640192	2640192	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:2640192C>T	uc002wgp.2	-	11	1059	c.1050G>A	c.(1048-1050)AAG>AAA	p.K350K	IDH3B_uc002wgq.2_Silent_p.K350K|IDH3B_uc002wgr.2_Silent_p.K198K	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	350					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	TGATCACCTTCTTCACCGCAT	0.507		NaN											0	0	0	0.000147903	0	64	367				
PROKR2	128674	broad.mit.edu	37	20	5282740	5282740	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:5282740G>C	uc010zqw.1	-	2	1101	c.1101C>G	c.(1099-1101)CTC>CTG	p.L367L	PROKR2_uc010zqx.1_Silent_p.L367L|PROKR2_uc010zqy.1_Silent_p.L367L	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	367	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CGTTGGTTCTGAGGTCAAGGT	0.547		NaN								HNSCC(71;0.22)			0	0	0	0.00010058	0	11	56				
C20orf134	170487	broad.mit.edu	37	20	32255546	32255546	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:32255546G>A	uc002wzt.2	+	1	1243	c.243G>A	c.(241-243)AAG>AAA	p.K81K	NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	hypothetical protein LOC170487	81										pancreas(1)	1						CACATCTCAAGAAGCGCAGCT	0.672		NaN											0	0	0	0.000274275	0	6	32				
CEP250	11190	broad.mit.edu	37	20	34092575	34092576	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:34092575_34092576CC>AA	uc002xcm.2	+	31	7049_7050	c.6378_6379CC>AA	c.(6376-6381)CCCCAC>CCAAAC	p.H2127N	CEP250_uc010zve.1_Missense_Mutation_p.H1495N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2127	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCCTTACCCCACAGCCACAA	0.54		NaN											0	0	0	6.4e-05	0	7	101				
ACOT8	10005	broad.mit.edu	37	20	44483824	44483824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44483824G>A	uc002xqa.1	-	2	317	c.236C>T	c.(235-237)TCC>TTC	p.S79F	ACOT8_uc010zxe.1_Missense_Mutation_p.S79F|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	79					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGTGCAGGGAGTGCACGTG	0.617		NaN											0	0	0	0.000147903	0	53	41				
SLC12A5	57468	broad.mit.edu	37	20	44676624	44676624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:44676624G>A	uc010zxl.1	+	16	2057	c.1981G>A	c.(1981-1983)GAG>AAG	p.E661K	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E638K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	661					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCAGGGCAGAGAAGGAGTG	0.617		NaN											0	0	0	0.000157383	0	8	8				
PRIC285	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196310C>G	uc002yfm.2	-	9	4757	c.3865G>C	c.(3865-3867)GAG>CAG	p.E1289Q	PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1289					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGCTGGCCTCAGGCAGCACC	0.672		NaN											0	0	0	0.000219431	0	14	14				
PRIC285	85441	broad.mit.edu	37	20	62196796	62196796	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196796C>T	uc002yfm.2	-	9	4271	c.3379G>A	c.(3379-3381)GAG>AAG	p.E1127K	PRIC285_uc002yfl.1_Missense_Mutation_p.E558K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1127					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGTACCGCTCGGGCTCCGCG	0.706		NaN											0	0	0	6.40141e-05	0	7	9				
PRIC285	85441	broad.mit.edu	37	20	62196802	62196802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr20:62196802C>T	uc002yfm.2	-	9	4265	c.3373G>A	c.(3373-3375)GAG>AAG	p.E1125K	PRIC285_uc002yfl.1_Missense_Mutation_p.E556K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1125					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCGGGCTCCGCGTGCAGC	0.701		NaN											0	0	0	6.40141e-05	0	7	9				
NRIP1	8204	broad.mit.edu	37	21	16338775	16338776	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:16338775_16338776GG>TT	uc002yjx.2	-	4	2336_2337	c.1738_1739CC>AA	c.(1738-1740)CCA>AAA	p.P580K		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	580	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GACATATGGTGGGGAATTCCAT	0.45		NaN											0	0	0	6.4e-05	0	14	402				
KRTAP13-1	140258	broad.mit.edu	37	21	31768675	31768675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:31768675C>G	uc002yoa.2	+	1	284	c.271C>G	c.(271-273)CCC>GCC	p.P91A		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	91	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)	1						GCTCTGCAGTCCCTGCCAGAC	0.617		NaN											0	0	0	0.00010058	0	11	45				
GART	2618	broad.mit.edu	37	21	34883639	34883639	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:34883639T>C	uc002yrx.2	-	17	2369	c.2234A>G	c.(2233-2235)CAG>CGG	p.Q745R	GART_uc002yrz.2_Missense_Mutation_p.Q745R|GART_uc010gmd.2_Missense_Mutation_p.Q407R|GART_uc002yry.2_Missense_Mutation_p.Q745R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	745	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	CTGCTCTGTCTGCTCCTTTGA	0.512		NaN											0	0	0	0.000147903	0	124	236				
DSCAM	1826	broad.mit.edu	37	21	41505787	41505787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:41505787C>G	uc002yyq.1	-	19	4008	c.3556G>C	c.(3556-3558)GAG>CAG	p.E1186Q	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1186	Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACCATCCTCTTTGGTCCGG	0.597		NaN											0	0	0	7.07596e-05	0	17	95				
RRP1B	23076	broad.mit.edu	37	21	45104496	45104496	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45104496C>T	uc002zdk.2	+	10	1068	c.954C>T	c.(952-954)CAC>CAT	p.H318H	RRP1B_uc002zdl.2_5'Flank	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	318					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		ACACGCCCCACTTCAACAGGA	0.483		NaN											0	0	0	9.7654e-05	0	18	80				
TRPM2	7226	broad.mit.edu	37	21	45795809	45795809	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:45795809G>C	uc002zet.1	+	7	1078	c.865G>C	c.(865-867)GAC>CAC	p.D289H	TRPM2_uc002zeu.1_Missense_Mutation_p.D289H|TRPM2_uc002zew.1_Missense_Mutation_p.D289H|TRPM2_uc010gpt.1_Missense_Mutation_p.D289H|TRPM2_uc002zex.1_Missense_Mutation_p.D75H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	289	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTCGTGGACGACGGGACCCA	0.587		NaN											0	0	0	0.000132079	0	19	50				
MCM3AP	8888	broad.mit.edu	37	21	47693430	47693430	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr21:47693430C>T	uc002zir.1	-	7	2104	c.2068G>A	c.(2068-2070)GAG>AAG	p.E690K		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	690					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GGCCGCAGCTCGTGGGGCAGG	0.612		NaN											0	0	0	0.00047179	0	23	44				
PIWIL3	440822	broad.mit.edu	37	22	25131704	25131705	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:25131704_25131705GG>TT	uc003abd.1	-	13	2021_2022	c.1604_1605CC>AA	c.(1603-1605)CCC>CAA	p.P535Q	PIWIL3_uc011ajx.1_Missense_Mutation_p.P426Q|PIWIL3_uc011ajy.1_Missense_Mutation_p.P426Q|PIWIL3_uc010gut.1_Missense_Mutation_p.P535Q	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	535					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						TTATGCCCATGGGGGCTGTGAC	0.386		NaN											0	0	0	6.4e-05	0	8	234				
EIF4ENIF1	56478	broad.mit.edu	37	22	31859020	31859020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:31859020G>A	uc003akz.1	-	6	849	c.685C>T	c.(685-687)CAG>TAG	p.Q229*	EIF4ENIF1_uc003ala.1_Nonsense_Mutation_p.Q229*|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	229						nucleus	protein binding|protein transporter activity			ovary(1)	1						GTTTCAGACTGACTTGTGGGT	0.448		NaN											0	0	0	0.000566183	0	17	55				
SH3BP1	23616	broad.mit.edu	37	22	38061588	38061588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:38061588G>T	uc003atj.1	+	17	2415	c.1528G>T	c.(1528-1530)GAG>TAG	p.E510*	PDXP_uc003atm.1_Nonsense_Mutation_p.E201*			Q9Y3L3	3BP1_HUMAN	SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CGCTGCAGTGGAGACAGCCTC	0.662		NaN											1	0	2.0095e-06	8.12818e-05	3.15297e-05	7	24				
NPTXR	23467	broad.mit.edu	37	22	39218743	39218743	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:39218743G>A	uc003awk.2	-	5	1528	c.1374C>T	c.(1372-1374)GTC>GTT	p.V458V		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	458	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CAATGCCCAGGACCTGGGCTG	0.617		NaN											0	0	0	0.00024832	0	4	25				
GRAP2	9402	broad.mit.edu	37	22	40343185	40343185	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:40343185G>C	uc003ayh.1	+	2	338	c.75G>C	c.(73-75)TTG>TTC	p.L25F	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.L25F|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.L25F|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.L25F	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	25	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GAGATGTTTTGAAGGTAGGTG	0.483		NaN											0	0	0	0.000147903	0	55	70				
MCHR1	2847	broad.mit.edu	37	22	41077227	41077227	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:41077227C>T	uc003ayz.2	+	2	832	c.564C>T	c.(562-564)ATC>ATT	p.I188I	MCHR1_uc003aza.2_Silent_p.I77I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	188	Helical; Name=3; (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						GCACCCTCATCACGGCCATGG	0.572		NaN											0	0	0	0.000147903	0	47	49				
SCUBE1	80274	broad.mit.edu	37	22	43606163	43606163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr22:43606163C>T	uc003bdt.1	-	19	2555	c.2467G>A	c.(2467-2469)GAA>AAA	p.E823K		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	823	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGACGCATTCAGCGTTGGCT	0.627		NaN											0	0	0	0.000151284	0	14	19				
CHL1	10752	broad.mit.edu	37	3	440699	440699	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:440699G>A	uc003bou.2	+	25	3477	c.3206_splice	c.e25-1	p.E1069_splice	CHL1_uc003bot.2_Splice_Site_p.E1085_splice|CHL1_uc003bow.1_Splice_Site_p.E1069_splice|CHL1_uc011asi.1_Splice_Site_p.K1032_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCTACCACAGAATATGCTGG	0.348		NaN											0	0	0	0.00010058	0	9	207				
THUMPD3	25917	broad.mit.edu	37	3	9424928	9424928	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9424928C>T	uc003bro.3	+	8	1318	c.1170C>T	c.(1168-1170)ATC>ATT	p.I390I	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.I390I	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	390							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGTGGGATATCTGCAATCTGC	0.418		NaN											0	0	0	9.7654e-05	0	18	128				
TTLL3	26140	broad.mit.edu	37	3	9877038	9877038	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:9877038C>T	uc003btg.2	+	13	2400	c.2184C>T	c.(2182-2184)CCC>CCT	p.P728P	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	728					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TTCGATTCCCCACTGCCCTTG	0.552		NaN											0	0	0	0.000229342	0	23	78				
C3orf31	132001	broad.mit.edu	37	3	11880710	11880710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:11880710G>A	uc003bwh.2	-	3	639	c.397C>T	c.(397-399)CGA>TGA	p.R133*	C3orf31_uc003bwj.2_Nonsense_Mutation_p.R133*|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Nonsense_Mutation_p.R133*|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	133					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						TTTTGGAGTCGTCCAGCAATG	0.229		NaN											0	0	0	0.000228196	0	35	54				
ZFYVE20	64145	broad.mit.edu	37	3	15115948	15115948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:15115948G>A	uc003bzm.1	-	14	2310	c.1696C>T	c.(1696-1698)CGC>TGC	p.R566C	ZFYVE20_uc010hek.1_Missense_Mutation_p.R566C	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	566	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						AGGTGGGTGCGAGGCTCTCTG	0.567		NaN											0	0	0	0.000274275	0	9	32				
OSBPL10	114884	broad.mit.edu	37	3	31921292	31921292	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:31921292G>A	uc003cev.2	-	3	693	c.312C>T	c.(310-312)ATC>ATT	p.I104I	OSBPL10_uc011axf.1_Silent_p.I104I	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	104	PH.				lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		AATACTGCAGGATGCCAGCCT	0.478		NaN											0	0	0	0.000442599	0	10	46				
NKTR	4820	broad.mit.edu	37	3	42678621	42678621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:42678621G>C	uc003clo.2	+	13	1572	c.1425G>C	c.(1423-1425)ATG>ATC	p.M475I	NKTR_uc003clm.1_Missense_Mutation_p.M222I|NKTR_uc003clp.2_Missense_Mutation_p.M222I|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.M365I|NKTR_uc003clr.1_Missense_Mutation_p.M222I|NKTR_uc003cls.2_Missense_Mutation_p.M175I	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	475	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCGAAGAATGAAATCCTCTT	0.393		NaN											0	0	0	0.000229342	0	19	67				
TDGF1	6997	broad.mit.edu	37	3	46621544	46621544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:46621544G>A	uc003cpv.2	+	5	722	c.442G>A	c.(442-444)GGC>AGC	p.G148S	LRRC2_uc003cpu.3_5'UTR	NM_003212	NP_003203	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	148					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATTTCTACCCGGCTGTGGTAA	0.547		NaN											0	0	0	0.000184323	0	24	37				
SHISA5	51246	broad.mit.edu	37	3	48510922	48510922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:48510922G>A	uc003ctp.1	-	5	615	c.481C>T	c.(481-483)CAG>TAG	p.Q161*	SHISA5_uc003ctn.1_Missense_Mutation_p.S29L|SHISA5_uc003ctm.1_Nonsense_Mutation_p.Q58*|SHISA5_uc011bbk.1_Missense_Mutation_p.S69L|SHISA5_uc003cto.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctq.1_Nonsense_Mutation_p.Q154*|SHISA5_uc003ctr.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003cts.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctt.2_Nonsense_Mutation_p.Q58*|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Nonsense_Mutation_p.Q59*	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	161	Cytoplasmic (Potential).|Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						CTTGGAGGCTGAGGATAAGGG	0.602		NaN											0	0	0	0.000157383	0	7	39				
RHOA	387	broad.mit.edu	37	3	49405951	49405951	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:49405951G>T	uc003cwu.2	-	3	463	c.187C>A	c.(187-189)CAG>AAG	p.Q63K	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	63	GTP (By similarity).			Q->L: Causes constitutive activation.	axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TAATCTTCCTGCCCAGCTGTG	0.483		NaN											1	0	2.79863e-10	9.22233e-05	4.48025e-09	24	93		Valid		
SEMA3G	56920	broad.mit.edu	37	3	52473745	52473745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52473745C>T	uc003dea.1	-	12	1418	c.1418G>A	c.(1417-1419)GGC>GAC	p.G473D		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	473	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TTCAGCTGAGCCCCCTGCCTG	0.622		NaN											0	0	0	0.000157383	0	7	19				
NT5DC2	64943	broad.mit.edu	37	3	52558849	52558849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:52558849C>T	uc003deo.2	-	13	1709	c.1285G>A	c.(1285-1287)GAG>AAG	p.E429K	NT5DC2_uc003dem.2_Missense_Mutation_p.E299K|NT5DC2_uc003den.2_Missense_Mutation_p.E466K|NT5DC2_uc010hmi.2_Missense_Mutation_p.E441K|NT5DC2_uc010hmj.2_Missense_Mutation_p.E245K	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	429							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCCTGCCGCTCTTTCATCCAG	0.657		NaN											0	0	0	0.000274275	0	9	31				
CACNA1D	776	broad.mit.edu	37	3	53804028	53804028	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:53804028C>A	uc003dgv.3	+	31	4062	c.3899C>A	c.(3898-3900)CCA>CAA	p.P1300Q	CACNA1D_uc003dgu.3_Missense_Mutation_p.P1320Q|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Missense_Mutation_p.P967Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.P476Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1300	Extracellular (Potential).|IV.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTCCCTGTCCCAACTGCTACA	0.438		NaN											1	0	2.17888e-05	0.000442599	0.000339942	8	228				
PHLDB2	90102	broad.mit.edu	37	3	111603142	111603142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:111603142C>T	uc010hqa.2	+	2	629	c.218C>T	c.(217-219)TCT>TTT	p.S73F	PHLDB2_uc003dyc.2_Missense_Mutation_p.S100F|PHLDB2_uc003dyd.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyg.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyh.2_Missense_Mutation_p.S73F|PHLDB2_uc003dye.3_Missense_Mutation_p.S73F|PHLDB2_uc003dyf.3_Missense_Mutation_p.S73F	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	73						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGAAGCCCTTCTCCTTTGGGA	0.443		NaN											0	0	0	0.000147903	0	131	301				
WDR52	55779	broad.mit.edu	37	3	113114608	113114608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113114608G>C	uc003eae.1	-	15	1925	c.1879C>G	c.(1879-1881)CCC>GCC	p.P627A		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	627										central_nervous_system(1)	1						TGAGACATGGGAGACCACATT	0.343		NaN											0	0	0	0.000339439	0	29	104				
ATP6V1A	523	broad.mit.edu	37	3	113505209	113505209	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:113505209G>C	uc003eao.2	+	6	761	c.695G>C	c.(694-696)AGA>ACA	p.R232T	ATP6V1A_uc011bik.1_Missense_Mutation_p.R199T	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	232					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						ACTGGCCAGAGAGTCCTTGAT	0.428		NaN											0	0	0	0.000147903	0	168	184				
GPR156	165829	broad.mit.edu	37	3	119886885	119886885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:119886885G>T	uc011bjf.1	-	9	1439	c.1439C>A	c.(1438-1440)TCT>TAT	p.S480Y	GPR156_uc011bjg.1_Missense_Mutation_p.S476Y	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	480	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TAAATGATCAGAAAAGTCTTT	0.532		NaN											1	0	4.4004e-07	0.00047179	6.94383e-06	25	135				
NDUFB4	4710	broad.mit.edu	37	3	120315335	120315335	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:120315335G>A	uc003edu.2	+	1	208	c.129G>A	c.(127-129)CTG>CTA	p.L43L	NDUFB4_uc003edt.2_Silent_p.L43L	NM_004547	NP_004538	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	43					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	GAGCCCAGCTGAAACGAGAGT	0.632		NaN											0	0	0	0.000184323	0	24	23				
XRN1	54464	broad.mit.edu	37	3	142122729	142122729	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:142122729C>T	uc003eus.2	-	17	2053	c.1986G>A	c.(1984-1986)CTG>CTA	p.L662L	XRN1_uc010huu.2_Silent_p.L128L|XRN1_uc003eut.2_Silent_p.L662L|XRN1_uc003euu.2_Silent_p.L662L|XRN1_uc003euv.1_Silent_p.L523L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	662					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TGATGTGTTTCAGAGTAGGAA	0.289		NaN											0	0	0	0.000586117	0	22	177				
LXN	56925	broad.mit.edu	37	3	158386887	158386887	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:158386887G>A	uc003fch.2	-	4	620	c.405C>T	c.(403-405)CTC>CTT	p.L135L	GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Silent_p.L135L	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	latexin	135						cytoplasm	metalloendopeptidase inhibitor activity|protein binding				0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATGTAGAACGAGCGTCATTT	0.313		NaN											0	0	0	0.000175454	0	20	126				
PLD1	5337	broad.mit.edu	37	3	171455826	171455826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr3:171455826C>T	uc003fhs.2	-	2	132	c.16G>A	c.(16-18)GAG>AAG	p.E6K	PLD1_uc003fht.2_Missense_Mutation_p.E6K	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	6					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCCGTGGCTCGTTTTTCAGT	0.413		NaN											0	0	0	0.000566183	0	16	75				
GAK	2580	broad.mit.edu	37	4	845581	845581	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:845581C>T	uc003gbm.3	-	25	3664	c.3465G>A	c.(3463-3465)GTG>GTA	p.V1155V	GAK_uc003gbn.3_Silent_p.V1076V|GAK_uc003gbk.3_5'UTR|GAK_uc010ibi.2_Silent_p.V380V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.V1008V	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1155					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCGCCCCGATCACACTGAAGT	0.657		NaN											0	0	0	0.00010058	0	10	28				
ADD1	118	broad.mit.edu	37	4	2916622	2916622	+	Silent	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:2916622G>C	uc003gfr.2	+	13	1805	c.1617G>C	c.(1615-1617)GTG>GTC	p.V539V	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.V570V|ADD1_uc003gfp.2_Silent_p.V539V|ADD1_uc003gfq.2_Silent_p.V570V|ADD1_uc003gfs.2_Silent_p.V570V	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	539					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAGCTGGTGACGGCCTCCA	0.647		NaN											0	0	0	6.4e-05	0	3	78				
KCNIP4	80333	broad.mit.edu	37	4	20734378	20734378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:20734378C>T	uc003gqe.2	-	6	601	c.517G>A	c.(517-519)GAT>AAT	p.D173N	KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Missense_Mutation_p.D170N|KCNIP4_uc003gqd.3_Missense_Mutation_p.D153N	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	190	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				CCCATCATATCGTATATTGCT	0.378		NaN											0	0	0	7.07596e-05	0	17	44				
EXOC1	55763	broad.mit.edu	37	4	56768579	56768579	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:56768579G>A	uc003hbe.1	+	18	2565	c.2407G>A	c.(2407-2409)GCA>ACA	p.A803T	EXOC1_uc003hbf.1_Missense_Mutation_p.A803T|EXOC1_uc003hbg.1_Missense_Mutation_p.A788T	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	803					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					TTACCAACTTGCATTTAACAA	0.378		NaN											0	0	0	0.000295444	0	22	53				
EPHA5	2044	broad.mit.edu	37	4	66361157	66361157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:66361157C>T	uc003hcy.2	-	4	1208	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K	EPHA5_uc003hcx.2_Missense_Mutation_p.E270K|EPHA5_uc003hcz.2_Missense_Mutation_p.E339K|EPHA5_uc011cah.1_Missense_Mutation_p.E339K|EPHA5_uc011cai.1_Missense_Mutation_p.E339K|EPHA5_uc003hda.2_Missense_Mutation_p.E339K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	339	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TAATCCTTTTCACAGACACAA	0.468		NaN								TSP Lung(17;0.13)			0	0	0	6.40141e-05	0	12	131				
SEPT11	55752	broad.mit.edu	37	4	77926942	77926942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:77926942G>A	uc003hkj.2	+	3	493	c.331G>A	c.(331-333)GAT>AAT	p.D111N	SEPT11_uc010ijh.1_Missense_Mutation_p.D103N|SEPT11_uc011cca.1_Missense_Mutation_p.D121N	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	111					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						GATAAATAAAGATGACAGGTA	0.423		NaN											0	0	0	0.000175454	0	20	56				
ARHGAP24	83478	broad.mit.edu	37	4	86915953	86915953	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:86915953C>A	uc003hpk.2	+	9	1595	c.1146C>A	c.(1144-1146)CCC>CCA	p.P382P	ARHGAP24_uc003hpl.2_Silent_p.P287P|ARHGAP24_uc010ikf.2_Silent_p.P297P|ARHGAP24_uc003hpm.2_Silent_p.P289P	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	382					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTGAGTCACCCCAGAGAAGCA	0.502		NaN											1	0	1.56989e-16	0.000147903	2.58051e-15	53	88				
RAP1GDS1	5910	broad.mit.edu	37	4	99363176	99363176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:99363176C>G	uc003htx.3	+	15	1922	c.1732C>G	c.(1732-1734)CTA>GTA	p.L578V	RAP1GDS1_uc003htw.3_Missense_Mutation_p.L579V|RAP1GDS1_uc003htv.3_Missense_Mutation_p.L578V|RAP1GDS1_uc003htz.3_Missense_Mutation_p.L529V|RAP1GDS1_uc003hty.3_Missense_Mutation_p.L530V|RAP1GDS1_uc003hua.3_Missense_Mutation_p.L487V	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	578							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTTGGCTTTTCTAGATGTCGT	0.408		NaN	T	NUP98	T-ALL								0	0	0	7.07596e-05	0	16	33				
CENPE	1062	broad.mit.edu	37	4	104070087	104070087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:104070087C>A	uc003hxb.1	-	28	3847	c.3757G>T	c.(3757-3759)GAA>TAA	p.E1253*	CENPE_uc003hxc.1_Nonsense_Mutation_p.E1228*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1253	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTCTTAGTTCATCAATAGTT	0.323		NaN											1	0	3.57733e-08	0.000279167	5.69383e-07	31	71				
TRPC3	7222	broad.mit.edu	37	4	122828620	122828620	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:122828620G>T	uc003ieg.2	-	7	1969	c.1895C>A	c.(1894-1896)GCA>GAA	p.A632E	TRPC3_uc010inr.2_Missense_Mutation_p.A504E|TRPC3_uc003ief.2_Missense_Mutation_p.A559E|TRPC3_uc011cgl.1_Missense_Mutation_p.A296E	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	547	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GCTCTCATTTGCAGGGAGGAT	0.448		NaN											1	0	1.95512e-22	0.000147903	3.22332e-21	58	138				
SLC25A31	83447	broad.mit.edu	37	4	128685476	128685476	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:128685476G>C	uc003ifl.2	+	3	585	c.439G>C	c.(439-441)GAT>CAT	p.D147H		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	147	Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						ATATCCTCTAGATTTTGCCCG	0.378		NaN											0	0	0	9.7654e-05	0	17	56				
PRMT10	90826	broad.mit.edu	37	4	148575529	148575529	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:148575529G>C	uc003ilc.2	-	9	1661	c.1519C>G	c.(1519-1521)CAG>GAG	p.Q507E	PRMT10_uc003ilb.2_Missense_Mutation_p.Q151E|PRMT10_uc003ild.2_Missense_Mutation_p.Q394E	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	507						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						TTACTGGTCTGAAGGTTAGCG	0.383		NaN											0	0	0	0.000339439	0	30	82				
RAPGEF2	9693	broad.mit.edu	37	4	160264207	160264207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:160264207C>T	uc003iqg.3	+	15	2822	c.2512C>T	c.(2512-2514)CAA>TAA	p.Q838*		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	838	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAACTATTTCAAGATCTCCA	0.423		NaN											0	0	0	0.000308642	0	15	33				
NAF1	92345	broad.mit.edu	37	4	164050300	164050300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:164050300G>C	uc003iqj.2	-	8	1428	c.1234C>G	c.(1234-1236)CAG>GAG	p.Q412E	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	412					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTTGTCTCTGAGAAGGAAAT	0.413		NaN											0	0	0	0.000442599	0	9	35				
DDX60	55601	broad.mit.edu	37	4	169197306	169197306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:169197306C>T	uc003irp.2	-	15	2297	c.2005G>A	c.(2005-2007)GCT>ACT	p.A669T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	669							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGAACAGCTATACTTAAA	0.313		NaN											0	0	0	6.40141e-05	0	10	56				
CASP3	836	broad.mit.edu	37	4	185552257	185552257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr4:185552257C>G	uc003iwh.2	-	7	801	c.538G>C	c.(538-540)GAT>CAT	p.D180H	CASP3_uc003iwg.2_Intron|CASP3_uc003iwi.2_Missense_Mutation_p.D180H	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	180					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GCCATGTCATCATCAACACCA	0.418		NaN											0	0	0	9.22233e-05	0	21	39				
ADAMTS16	170690	broad.mit.edu	37	5	5239847	5239847	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:5239847G>A	uc003jdl.2	+	16	2470	c.2332G>A	c.(2332-2334)GAA>AAA	p.E778K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E778K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	778	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CCGCATCTATGAAATGAACGT	0.483		NaN											0	0	0	0.000147802	0	29	102				
DNAH5	1767	broad.mit.edu	37	5	13913930	13913930	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:13913930G>A	uc003jfd.2	-	11	1500	c.1458C>T	c.(1456-1458)ATC>ATT	p.I486I	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	486	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGGTTGTAAAGATGTCTATTA	0.358		NaN							Kartagener_syndrome				0	0	0	0.000147903	0	71	77				
DNAH5	1767	broad.mit.edu	37	5	13923405	13923406	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:13923405_13923406GG>TT	uc003jfd.2	-	4	463_464	c.421_422CC>AA	c.(421-423)CCT>AAT	p.P141N	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	141	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GATGTTGTCAGGGGTGATGGCT	0.455		NaN							Kartagener_syndrome				0	0	0	6.4e-05	0	10	333				
RXFP3	51289	broad.mit.edu	37	5	33938041	33938041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:33938041C>T	uc003jic.1	+	1	1553	c.1196C>T	c.(1195-1197)GCG>GTG	p.A399V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	399	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TTCCGCAAGGCGCTCAAGAGC	0.642		NaN											0	0	0	0.000586117	0	23	57				
GZMA	3001	broad.mit.edu	37	5	54398548	54398548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:54398548C>T	uc003jpm.2	+	1	75	c.38C>T	c.(37-39)TCA>TTA	p.S13L		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	13					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCCTCTCTCTCAGTTGTCGTT	0.408		NaN											0	0	0	0.000125731	0	43	67				
DDX4	54514	broad.mit.edu	37	5	55094377	55094377	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:55094377C>G	uc003jqg.3	+	18	1667	c.1593C>G	c.(1591-1593)CTC>CTG	p.L531L	DDX4_uc010ivz.2_Silent_p.L511L|DDX4_uc003jqh.3_Silent_p.L497L|DDX4_uc003jqj.2_Silent_p.L382L	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	531	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGAAAAGCTCGTTGAAATTC	0.333		NaN											0	0	0	0.000491102	0	35	60				
AGGF1	55109	broad.mit.edu	37	5	76351402	76351402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:76351402G>A	uc003ket.2	+	11	2057	c.1697G>A	c.(1696-1698)CGA>CAA	p.R566Q		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	566					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAGAAAATACGAGTAAAATAT	0.299		NaN											0	0	0	0.000151284	0	12	48				
MEF2C	4208	broad.mit.edu	37	5	88100568	88100568	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:88100568C>T	uc003kjj.2	-	3	778	c.105G>A	c.(103-105)CTG>CTA	p.L35L	MEF2C_uc003kji.2_Silent_p.L35L|MEF2C_uc003kjk.2_Silent_p.L35L|MEF2C_uc003kjm.2_Silent_p.L35L|MEF2C_uc003kjl.2_Silent_p.L35L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	35	MADS-box.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACAGCACGCTCAGCTCATAAG	0.418		NaN								HNSCC(66;0.2)			0	0	0	0.000442599	0	10	42				
TTC37	9652	broad.mit.edu	37	5	94876439	94876439	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:94876439G>A	uc003klb.2	-	8	768	c.498C>T	c.(496-498)TTC>TTT	p.F166F	TTC37_uc010jbf.1_Silent_p.F118F	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	166							binding			ovary(3)|pancreas(1)	4						TTTCAGCCAGGAACTGAGTCA	0.373		NaN											0	0	0	0.000147802	0	28	70				
RAD50	10111	broad.mit.edu	37	5	131927031	131927031	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:131927031A>G	uc003kxi.2	+	10	1955	c.1568A>G	c.(1567-1569)CAG>CGG	p.Q523R	RAD50_uc003kxh.2_Missense_Mutation_p.Q384R	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	523	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTGACCAGGAGATGGAG	0.368		NaN						Homologous_recombination					0	0	0	6.4e-05	0	3	47				
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:142500655C>G	uc011dbj.1	+	18	1676	c.1641C>G	c.(1639-1641)ATC>ATG	p.I547M	ARHGAP26_uc003lmt.2_Missense_Mutation_p.I547M|ARHGAP26_uc003lmw.2_Missense_Mutation_p.I547M	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	547	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433		NaN											0	0	0	0.000228196	0	40	71				
WDR46	9277	broad.mit.edu	37	6	33248750	33248750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:33248750G>C	uc003ods.2	-	11	1174	c.1130C>G	c.(1129-1131)TCT>TGT	p.S377C	WDR46_uc011dra.1_Missense_Mutation_p.S323C	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	377	WD 5.										0						GTCTAGGCCAGAGGTGGCCAT	0.552		NaN											0	0	0	6.40141e-05	0	11	34				
DNAH8	1769	broad.mit.edu	37	6	38810677	38810677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:38810677G>C	uc003ooe.1	+	33	4792	c.4192G>C	c.(4192-4194)GAG>CAG	p.E1398Q		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGATGATATTGAGGTACATAA	0.274		NaN											0	0	0	0.000147903	0	105	33				
KIF6	221458	broad.mit.edu	37	6	39507812	39507813	+	Missense_Mutation	DNP	CC	CC	AA	rs142216439		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:39507812_39507813CC>AA	uc003oot.2	-	13	1706_1707	c.1611_1612GG>TT	c.(1609-1614)TTGGGG>TTTTGG	p.537_538LG>FW	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.328_329LG>FW|KIF6_uc011dua.1_Missense_Mutation_p.537_538LG>FW|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	537_538					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GATCTTTTCCCCAAAATGCTGA	0.465		NaN											0	0	0	6.4e-05	0	14	443				
TRERF1	55809	broad.mit.edu	37	6	42224512	42224512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224512G>A	uc003osd.2	-	12	3097	c.2534C>T	c.(2533-2535)TCT>TTT	p.S845F	TRERF1_uc011duq.1_Missense_Mutation_p.S762F|TRERF1_uc003osb.2_Missense_Mutation_p.S601F|TRERF1_uc003osc.2_Missense_Mutation_p.S601F|TRERF1_uc003ose.2_Missense_Mutation_p.S865F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	845	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAAATTCAGAATTGGTCCC	0.443		NaN											0	0	0	0.000147903	0	54	38				
TRERF1	55809	broad.mit.edu	37	6	42224558	42224558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:42224558G>C	uc003osd.2	-	12	3051	c.2488C>G	c.(2488-2490)CTG>GTG	p.L830V	TRERF1_uc011duq.1_Missense_Mutation_p.L747V|TRERF1_uc003osb.2_Missense_Mutation_p.L586V|TRERF1_uc003osc.2_Missense_Mutation_p.L586V|TRERF1_uc003ose.2_Missense_Mutation_p.L850V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	830	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACAAATTCAGAAGATTCTCC	0.463		NaN											0	0	0	0.000147903	0	55	28				
GTPBP2	54676	broad.mit.edu	37	6	43593155	43593155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:43593155G>A	uc003ovs.2	-	5	687	c.650C>T	c.(649-651)TCT>TTT	p.S217F	GTPBP2_uc010jyv.2_Missense_Mutation_p.S129F|GTPBP2_uc003ovt.1_Missense_Mutation_p.S217F	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	217							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGTTCGGCCAGACTGAATCTC	0.592		NaN											0	0	0	0.00058488	0	36	79				
GCLC	2729	broad.mit.edu	37	6	53370630	53370630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:53370630C>G	uc003pbw.1	-	11	1649	c.1261G>C	c.(1261-1263)GGA>CGA	p.G421R	GCLC_uc003pbv.1_Missense_Mutation_p.G145R	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	421					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ACTCTCCATCCAATGTCTGAG	0.428		NaN											0	0	0	0.000147802	0	24	55				
ZNF292	23036	broad.mit.edu	37	6	87970067	87970067	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:87970067C>T	uc003plm.3	+	8	6761	c.6720C>T	c.(6718-6720)GAC>GAT	p.D2240D		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2240	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAGGCAGACCACGGGATTG	0.418		NaN											0	0	0	0.000184323	0	31	70				
ANKRD6	22881	broad.mit.edu	37	6	90340347	90340347	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:90340347C>T	uc003pni.3	+	16	2149	c.1808C>T	c.(1807-1809)GCA>GTA	p.A603V	ANKRD6_uc003pne.3_Missense_Mutation_p.A598V|ANKRD6_uc003pnf.3_Missense_Mutation_p.A568V|ANKRD6_uc011dzy.1_Missense_Mutation_p.A603V|ANKRD6_uc010kcd.2_Missense_Mutation_p.A539V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.A199V|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.A199V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	603							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATGAATGAGGCAGCCAGATCT	0.572		NaN											0	0	0	8.12818e-05	0	6	20				
VNN2	8875	broad.mit.edu	37	6	133072623	133072623	+	Silent	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:133072623C>G	uc003qdt.2	-	5	872	c.861G>C	c.(859-861)GTG>GTC	p.V287V	VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.V234V	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	287	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CATAATGATACACTTTGGGAC	0.408		NaN											0	0	0	0.000151284	0	14	44				
LTV1	84946	broad.mit.edu	37	6	144179139	144179139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:144179139G>C	uc003qjs.2	+	6	897	c.790G>C	c.(790-792)GAG>CAG	p.E264Q	LTV1_uc003qju.1_Missense_Mutation_p.E49Q|C6orf94_uc010khj.2_5'UTR	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	264										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAGAGGTTTGAGAAGGTAAG	0.423		NaN											0	0	0	0.000409698	0	28	15				
RBM16	22828	broad.mit.edu	37	6	155123181	155123181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr6:155123181G>C	uc003qqa.2	+	8	915	c.683G>C	c.(682-684)GGT>GCT	p.G228A	RBM16_uc011efj.1_Missense_Mutation_p.G294A|RBM16_uc011efk.1_Missense_Mutation_p.G273A|RBM16_uc003qpz.2_Missense_Mutation_p.G228A|RBM16_uc010kji.2_Missense_Mutation_p.G249A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	228	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		CTAGATGCTGGTCTTGTTGTT	0.438		NaN											0	0	0	0.000602214	0	4	79				
C7orf28B	221960	broad.mit.edu	37	7	6865862	6865862	+	Splice_Site	SNP	G	G	C	rs141173433	by1000genomes	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:6865862G>C	uc003sqx.1	-	1	1	c.-32_splice	c.e1-1		C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_Splice_Site	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960							lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		AGCCTCCCACGGCCCGCCCAG	0.582		NaN											0	0	0	3.59834e-05	0	3	14				
ADCY1	107	broad.mit.edu	37	7	45650061	45650061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:45650061C>G	uc003tne.3	+	3	891	c.873C>G	c.(871-873)TTC>TTG	p.F291L	ADCY1_uc003tnd.2_Missense_Mutation_p.F66L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	291	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGAGGATTTTCCACAAGATTT	0.542		NaN											0	0	0	0.000374591	0	37	85				
RABGEF1	27342	broad.mit.edu	37	7	66270179	66270179	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:66270179C>T	uc011kee.1	+	8	1079	c.915C>T	c.(913-915)ATC>ATT	p.I305I	RABGEF1_uc003tvf.2_Silent_p.I164I|RABGEF1_uc003tvg.2_Silent_p.I99I|RABGEF1_uc010lag.2_Silent_p.I291I|RABGEF1_uc003tvh.2_Silent_p.I291I|RABGEF1_uc003tvi.2_Silent_p.I125I	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	508	VPS9.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TGGCCTGCATCACCAAGTGCA	0.458		NaN											0	0	0	0.000219431	0	14	61				
PCLO	27445	broad.mit.edu	37	7	82580207	82580207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:82580207C>T	uc003uhx.2	-	6	9986	c.9697G>A	c.(9697-9699)GAG>AAG	p.E3233K	PCLO_uc003uhv.2_Missense_Mutation_p.E3233K|PCLO_uc010lec.2_Missense_Mutation_p.E198K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3164	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCAATTCCTCAGCAAAGCGC	0.443		NaN											0	0	0	0.000228196	0	38	88				
CCDC132	55610	broad.mit.edu	37	7	92978099	92978099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:92978099C>T	uc003umo.2	+	24	2412	c.2284C>T	c.(2284-2286)CTT>TTT	p.L762F	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L732F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L482F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	762											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGCCCTTTCTTCAGCAGTT	0.403		NaN											0	0	0	0.000509022	0	42	88				
CYP3A7	1551	broad.mit.edu	37	7	99306789	99306789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99306789C>G	uc003uru.2	-	11	1227	c.1122G>C	c.(1120-1122)GAG>GAC	p.E374D	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	374					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGCAGACCCTCTCAAGTCTCA	0.428		NaN											0	0	0	9.7654e-05	0	19	106				
STAG3	10734	broad.mit.edu	37	7	99808634	99808634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:99808634G>A	uc003utx.1	+	30	3394	c.3239G>A	c.(3238-3240)GGG>GAG	p.G1080E	STAG3_uc011kjk.1_Missense_Mutation_p.G1022E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G304E	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1080					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTTGGCAGGGCCTGCCAAG	0.572		NaN											0	0	0	0.000117367	0	27	62				
MUC17	140453	broad.mit.edu	37	7	100677336	100677336	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:100677336C>A	uc003uxp.1	+	3	2692	c.2639C>A	c.(2638-2640)TCT>TAT	p.S880Y	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	880	Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCACTTCTGCAATCAGC	0.498		NaN											1	0	2.24612e-69	0.000147903	3.72532e-68	179	355				
FBXL13	222235	broad.mit.edu	37	7	102665560	102665560	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102665560C>T	uc003vaq.2	-	6	872	c.445G>A	c.(445-447)GAG>AAG	p.E149K	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149K|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149K|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	149											0						TTTAGAGTCTCATCTACAAGA	0.294		NaN											0	0	0	0.000219431	0	14	42				
PSMC2	5701	broad.mit.edu	37	7	102988224	102988224	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:102988224C>T	uc003vbs.2	+	1	136	c.66C>T	c.(64-66)ATC>ATT	p.I22I	DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Silent_p.I22I|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						ACAAGCCCATCCGAGGTCAGT	0.597		NaN											0	0	0	9.7654e-05	0	16	64				
PUS7	54517	broad.mit.edu	37	7	105098242	105098242	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:105098242G>A	uc003vcx.2	-	16	2200	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	PUS7_uc010lji.2_Missense_Mutation_p.R667C|PUS7_uc003vcy.2_Missense_Mutation_p.R661C|PUS7_uc003vcz.1_Missense_Mutation_p.R661C	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	661					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						ACTGCTCAGCGAAGCCAGGTT	0.448		NaN											0	0	0	0.000147903	0	67	323				
EXOC4	60412	broad.mit.edu	37	7	133502139	133502139	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:133502139G>C	uc003vrk.2	+	11	1611	c.1576G>C	c.(1576-1578)GAG>CAG	p.E526Q	EXOC4_uc011kpo.1_Missense_Mutation_p.E425Q|EXOC4_uc003vrl.2_Missense_Mutation_p.E136Q|EXOC4_uc011kpp.1_Missense_Mutation_p.E58Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	526					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TCCTCTTCGAGAGTTTCTCAC	0.413		NaN											0	0	0	0.000109025	0	31	56				
ZNF777	27153	broad.mit.edu	37	7	149129613	149129613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr7:149129613G>A	uc003wfv.2	-	6	1913	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	584	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTGTGCCGGAAGCTGATC	0.642		NaN											0	0	0	0.000602214	0	4	40				
PPP3CC	5533	broad.mit.edu	37	8	22398214	22398214	+	Silent	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:22398214C>A	uc003xbs.2	+	14	1765	c.1438C>A	c.(1438-1440)CGA>AGA	p.R480R	PPP3CC_uc011kzi.1_Silent_p.R489R|PPP3CC_uc003xbt.2_Silent_p.R470R|PPP3CC_uc011kzj.1_Silent_p.R195R	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	480					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AATGCCACCCCGAAAGGATAG	0.517		NaN											1	0	0.000602214	0.000602214	0.00908751	5	94				
NRG1	3084	broad.mit.edu	37	8	31498021	31498021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:31498021G>A	uc003xip.2	+	1	754	c.521G>A	c.(520-522)GGC>GAC	p.G174D		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAGCCGGGGGCTTGAAGAAG	0.706		NaN											0	0	0	0.000602214	0	4	16				
IDO2	169355	broad.mit.edu	37	8	39806766	39806766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:39806766C>G	uc010lwy.1	+	2	363	c.121C>G	c.(121-123)CTT>GTT	p.L41V	IDO2_uc003xno.1_RNA	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	28					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GTATGGCTTTCTTCTTCCAGA	0.383		NaN											0	0	0	0.000442599	0	10	25				
ATP6V1H	51606	broad.mit.edu	37	8	54745646	54745647	+	Splice_Site	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:54745646_54745647CC>AA	uc003xrl.2	-	3	266	c.114_splice	c.e3-1	p.Q38_splice	ATP6V1H_uc003xrk.2_Splice_Site|ATP6V1H_uc003xrm.2_Splice_Site_p.Q38_splice|ATP6V1H_uc003xrn.2_Splice_Site_p.Q38_splice|ATP6V1H_uc011ldv.1_Splice_Site|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Splice_Site_p.Q35_splice	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCATCTGTCCCCTAGAAAGTAA	0.406		NaN											0	0	0	6.4e-05	0	9	250				
IMPA1	3612	broad.mit.edu	37	8	82593018	82593018	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:82593018C>A	uc003ych.2	-	3	191	c.64G>T	c.(64-66)GTA>TTA	p.V22L	IMPA1_uc011lfq.1_Missense_Mutation_p.V81L|IMPA1_uc011lfr.1_Missense_Mutation_p.V22L	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	22					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TCACAAACTACCTAAAAAGAG	0.274		NaN											1	0	5.01169e-05	0.000566183	0.000771019	17	157				
TRPS1	7227	broad.mit.edu	37	8	116599486	116599487	+	Missense_Mutation	DNP	CC	CC	AA	rs146506752	by1000genomes	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:116599486_116599487CC>AA	uc003ynz.2	-	4	2861_2862	c.2402_2403GG>TT	c.(2401-2403)CGG>CTT	p.R801L	TRPS1_uc011lhy.1_Missense_Mutation_p.R805L|TRPS1_uc003yny.2_Missense_Mutation_p.R814L|TRPS1_uc010mcy.2_Missense_Mutation_p.R801L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	801	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACGGACTCCCCCGCAGGATGTC	0.559		NaN							Langer-Giedion_syndrome				0	0	0	6.4e-05	0	13	343				
COL14A1	7373	broad.mit.edu	37	8	121290778	121290778	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:121290778G>C	uc003yox.2	+	28	3707	c.3442G>C	c.(3442-3444)GAT>CAT	p.D1148H	COL14A1_uc003yoz.2_Missense_Mutation_p.D113H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1148	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATCACAAGATGATGTGAA	0.358		NaN											0	0	0	0.000147903	0	45	40				
HAS2	3037	broad.mit.edu	37	8	122626946	122626946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:122626946C>T	uc003yph.2	-	4	1600	c.1062G>A	c.(1060-1062)TGG>TGA	p.W354*		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	354	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGACTTGCTCCAACGGGTCT	0.448		NaN											0	0	0	0.000117367	0	28	118				
FER1L6	654463	broad.mit.edu	37	8	125058101	125058102	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:125058101_125058102CC>AA	uc003yqw.2	+	21	2889_2890	c.2683_2684CC>AA	c.(2683-2685)CCG>AAG	p.P895K		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	895	Cytoplasmic (Potential).|C2 3.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCAGAGTCCCCGCCCTTAGTG	0.55		NaN											0	0	0	6.4e-05	0	11	342				
DENND3	22898	broad.mit.edu	37	8	142200469	142200469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:142200469G>A	uc003yvy.2	+	20	3370	c.3092G>A	c.(3091-3093)CGA>CAA	p.R1031Q	DENND3_uc010mep.2_Missense_Mutation_p.R992Q|DENND3_uc003ywa.1_Missense_Mutation_p.R81Q|DENND3_uc003ywb.2_Missense_Mutation_p.R81Q	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1031										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGCCGCGAGGTGGCCTG	0.642		NaN											0	0	0	0.000308642	0	14	39				
ZNF623	9831	broad.mit.edu	37	8	144732979	144732979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144732979C>G	uc003yzd.2	+	1	1026	c.937C>G	c.(937-939)CAC>GAC	p.H313D	ZNF623_uc011lkp.1_Missense_Mutation_p.H273D|ZNF623_uc003yzc.2_Missense_Mutation_p.H273D	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	313	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCAGAGAATTCACACCGGAGA	0.468		NaN											0	0	0	0.000147903	0	58	72				
PLEC	5339	broad.mit.edu	37	8	144993101	144993101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144993101C>G	uc003zaf.1	-	32	11469	c.11299G>C	c.(11299-11301)GAG>CAG	p.E3767Q	PLEC_uc003zab.1_Missense_Mutation_p.E3630Q|PLEC_uc003zac.1_Missense_Mutation_p.E3634Q|PLEC_uc003zad.2_Missense_Mutation_p.E3630Q|PLEC_uc003zae.1_Missense_Mutation_p.E3598Q|PLEC_uc003zag.1_Missense_Mutation_p.E3608Q|PLEC_uc003zah.2_Missense_Mutation_p.E3616Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3657Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3767	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGATGATCTCTGTCTTCTCA	0.612		NaN											0	0	0	0.000586117	0	21	115				
PLEC	5339	broad.mit.edu	37	8	144994322	144994322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr8:144994322C>A	uc003zaf.1	-	32	10248	c.10078G>T	c.(10078-10080)GAG>TAG	p.E3360*	PLEC_uc003zab.1_Nonsense_Mutation_p.E3223*|PLEC_uc003zac.1_Nonsense_Mutation_p.E3227*|PLEC_uc003zad.2_Nonsense_Mutation_p.E3223*|PLEC_uc003zae.1_Nonsense_Mutation_p.E3191*|PLEC_uc003zag.1_Nonsense_Mutation_p.E3201*|PLEC_uc003zah.2_Nonsense_Mutation_p.E3209*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E3250*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3360	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GAGTAGAGCTCCTCCTGCCGG	0.677		NaN											1	0	3.86212e-05	3.86212e-05	0.000597493	10	56				
PTPRD	5789	broad.mit.edu	37	9	8500790	8500790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:8500790C>T	uc003zkk.2	-	23	2803	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.E698K|PTPRD_uc003zkm.2_Missense_Mutation_p.E685K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	698	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACAAGCTCTCAGGGCCAGGG	0.483		NaN								TSP Lung(15;0.13)			0	0	0	0.000437636	0	40	43				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.00024832	0	4	40				
AQP7	364	broad.mit.edu	37	9	33386406	33386406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33386406G>C	uc003zst.2	-	5	574	c.402C>G	c.(400-402)TTC>TTG	p.F134L	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.F77L|AQP7_uc010mjs.2_Missense_Mutation_p.F42L|AQP7_uc010mjt.2_Missense_Mutation_p.F42L|AQP7_uc011lnx.1_Missense_Mutation_p.F134L|AQP7_uc011lny.1_Missense_Mutation_p.F133L|AQP7_uc003zss.3_Missense_Mutation_p.F42L|AQP7_uc011lnz.1_Missense_Mutation_p.F42L|AQP7_uc011loa.1_Missense_Mutation_p.F42L	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	134	Helical; (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACTCACTGTAGAAGAGACTGT	0.577		NaN											0	0	0	0.00024832	0	4	23				
AQP7	364	broad.mit.edu	37	9	33387057	33387057	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:33387057G>C	uc003zst.2	-	4	350	c.178C>G	c.(178-180)CTA>GTA	p.L60V	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.L3V|AQP7_uc010mjs.2_Intron|AQP7_uc010mjt.2_Intron|AQP7_uc011lnx.1_Missense_Mutation_p.L60V|AQP7_uc011lny.1_Missense_Mutation_p.L59V|AQP7_uc003zss.3_Intron|AQP7_uc011lnz.1_Intron|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	60	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTTTTATTTAGAACCATATGG	0.567		NaN											0	0	0	3.59834e-05	0	5	50				
ANKRD20A4	728747	broad.mit.edu	37	9	69420374	69420375	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:69420374_69420375GG>TT	uc004afn.2	+	13	1376_1377	c.1264_1265GG>TT	c.(1264-1266)GGG>TTG	p.G422L		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	422											0						AAGAAAGATTGGGAAAACGTAT	0.342		NaN											0	0	0	6.4e-05	0	9	354				
APBA1	320	broad.mit.edu	37	9	72047530	72047530	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:72047530G>A	uc004ahh.2	-	12	2640	c.2364C>T	c.(2362-2364)ATC>ATT	p.I788I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	788	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TGATTTCAATGATCCGGTGCC	0.582		NaN											0	0	0	0.000147903	0	51	6				
RASEF	158158	broad.mit.edu	37	9	85677430	85677430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:85677430G>T	uc004amo.1	-	1	614	c.353C>A	c.(352-354)TCG>TAG	p.S118*	RASEF_uc004amp.1_Nonsense_Mutation_p.S118*	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	118					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.S118L(1)		upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CGGGCCGCACGAGGTGGCCAG	0.721		NaN											1	0	2.23348e-06	0.000422831	3.49449e-05	13	19				
COL15A1	1306	broad.mit.edu	37	9	101800955	101800955	+	Missense_Mutation	SNP	G	G	C	rs139652646	byFrequency	TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:101800955G>C	uc004azb.1	+	22	2621	c.2415G>C	c.(2413-2415)TTG>TTC	p.L805F		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	805	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TTCAGTCCTTGATCAATATCA	0.463		NaN											0	0	0	0.000437636	0	37	228				
ERP44	23071	broad.mit.edu	37	9	102861077	102861077	+	Missense_Mutation	SNP	G	G	A	rs140289515		TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:102861077G>A	uc004bam.2	-	1	254	c.46C>T	c.(46-48)CTT>TTT	p.L16F	ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.L16F|INVS_uc010mta.1_5'Flank|INVS_uc011lve.1_5'Flank|INVS_uc004bao.1_5'Flank|INVS_uc004bap.1_5'Flank|INVS_uc004baq.1_5'Flank|INVS_uc004bar.1_5'Flank|INVS_uc010mtb.1_5'Flank	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	16					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0						AGGAGCAGAAGGGAGCATCTG	0.572		NaN											0	0	0	3.59834e-05	0	6	36				
LAMC3	10319	broad.mit.edu	37	9	133945103	133945103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:133945103G>A	uc004caa.1	+	17	3033	c.2935G>A	c.(2935-2937)GAG>AAG	p.E979K		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	979	Laminin EGF-like 11.			E -> Y (in Ref. 1; AAD36991).	cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTGCCACGAGAACGGCAC	0.662		NaN											0	0	0	0.000151284	0	14	13				
COL5A1	1289	broad.mit.edu	37	9	137591828	137591828	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr9:137591828C>T	uc004cfe.2	+	3	733	c.351C>T	c.(349-351)GTC>GTT	p.V117V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	117	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTTCCTGGTCTCCATCTACA	0.587		NaN											0	0	0	0.000151284	0	13	83				
ASMTL	8623	broad.mit.edu	37	X	1540663	1540663	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:1540663A>G	uc004cpx.1	-	9	1244	c.1133T>C	c.(1132-1134)ATG>ACG	p.M378T	ASMTL_uc011mhe.1_Missense_Mutation_p.M302T|ASMTL_uc004cpy.1_Missense_Mutation_p.M362T|ASMTL_uc011mhf.1_Missense_Mutation_p.M320T	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	378	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTATTGTGCATGATGAAGCC	0.522		NaN											0	0	0	3.86212e-05	0	11	522				
TLR8	51311	broad.mit.edu	37	X	12937404	12937404	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:12937404C>G	uc004cve.2	+	2	313	c.245C>G	c.(244-246)TCA>TGA	p.S82*	TLR8_uc004cvd.2_Nonsense_Mutation_p.S100*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	82	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ACGAATGAATCATTTCAAGGG	0.413		NaN											0	0	0	0.000602214	0	5	187				
ZRSR2	8233	broad.mit.edu	37	X	15838418	15838419	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:15838418_15838419CG>AT	uc004cxg.3	+	10	961_962	c.916_917CG>AT	c.(916-918)CGG>ATG	p.R306M		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	306	C3H1-type 2.				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					CCCCGTGACCCGGTGGAAAATG	0.441		NaN											0	0	0	6.4e-05	0	7	213				
NUDT10	170685	broad.mit.edu	37	X	51075911	51075911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:51075911G>A	uc004dph.2	+	2	314	c.94G>A	c.(94-96)GAG>AAG	p.E32K	NUDT10_uc004dpi.3_Missense_Mutation_p.E32K	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	32	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					GCGCGAGGACGAGGTCCTGTT	0.687		NaN											0	0	0	0.000157383	0	7	25				
SLC7A3	84889	broad.mit.edu	37	X	70148785	70148785	+	Silent	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:70148785C>T	uc004dyn.2	-	3	596	c.438G>A	c.(436-438)AAG>AAA	p.K146K	SLC7A3_uc004dyo.2_Silent_p.K146K	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	146	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCAGAGTCTTAGAGATGT	0.542		NaN											0	0	0	0.00010058	0	12	61				
AGTR2	186	broad.mit.edu	37	X	115304028	115304029	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:115304028_115304029CC>AA	uc004eqh.3	+	3	702_703	c.495_496CC>AA	c.(493-498)CCCCTT>CCAATT	p.L166I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	166	Helical; Name=4; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						ATATAGTTCCCCTTGTTTGGTG	0.396		NaN											0	0	0	6.4e-05	0	14	397				
THOC2	57187	broad.mit.edu	37	X	122756965	122756965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:122756965C>T	uc004etu.2	-	29	3705	c.3673G>A	c.(3673-3675)GAG>AAG	p.E1225K	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.E46K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1225					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CCAGTCTCCTCAGTACTGCTT	0.403		NaN											0	0	0	0.000375601	0	24	93				
ELF4	2000	broad.mit.edu	37	X	129208117	129208117	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:129208117C>G	uc004evd.3	-	4	633	c.248_splice	c.e4-1	p.D83_splice	ELF4_uc004eve.3_Splice_Site_p.D83_splice	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4						natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCATTGTCATCTGGTCCGGGT	0.532		NaN	T	ERG	AML								0	0	0	0.000147903	0	53	165				
PHF6	84295	broad.mit.edu	37	X	133549106	133549106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:133549106G>C	uc004exj.2	+	8	992	c.790G>C	c.(790-792)GAT>CAT	p.D264H	PHF6_uc004exk.2_Missense_Mutation_p.D264H|PHF6_uc011mvk.1_Missense_Mutation_p.D230H|PHF6_uc004exh.2_Missense_Mutation_p.D265H|PHF6_uc010nrr.2_Missense_Mutation_p.D264H|PHF6_uc004exi.2_Missense_Mutation_p.D265H	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TGGAGACTTTGATATTAAAAC	0.333		NaN											0	0	0	0.000147903	0	53	80				
FGF13	2258	broad.mit.edu	37	X	137939732	137939732	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:137939732G>A	uc004faq.2	-	2	335	c.159C>T	c.(157-159)CAC>CAT	p.H53H	FGF13_uc011mwi.1_Silent_p.H24H|FGF13_uc004far.2_Silent_p.H24H|FGF13_uc011mwj.1_Silent_p.H53H|FGF13_uc011mwk.1_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGAAGATTTCGTGACACTTAG	0.478		NaN											0	0	0	0.000147903	0	65	149				
PRRG3	79057	broad.mit.edu	37	X	150869180	150869180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:150869180G>A	uc004few.1	+	4	761	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	124	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCAGTCGCGCCGGGCAC	0.632		NaN											0	0	0	0.000566183	0	18	81				
RENBP	5973	broad.mit.edu	37	X	153206997	153206997	+	Silent	SNP	G	G	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chrX:153206997G>A	uc004fjo.1	-	8	1049	c.879C>T	c.(877-879)TCC>TCT	p.S293S	RENBP_uc011mzh.1_3'UTR	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	293					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GGTCCCATCCGGAGTGGAAGG	0.587		NaN											0	0	0	0.000184323	0	29	107				
PRKCZ	5590	broad.mit.edu	37	1	2077537	2077537	+	Missense_Mutation	SNP	G	G	C	rs143367104		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:2077537G>C	uc001aiq.2	+	7	785	c.624G>C	c.(622-624)GAG>GAC	p.E208D	PRKCZ_uc001air.2_Missense_Mutation_p.E25D|PRKCZ_uc010nyw.1_Missense_Mutation_p.E104D|PRKCZ_uc001ais.2_Missense_Mutation_p.E25D|PRKCZ_uc009vla.2_Missense_Mutation_p.E32D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Missense_Mutation_p.E21D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	208					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTTCCGAGGAGACAGATGGAA	0.582		NaN											0	0	0	6.4e-05	0	3	51				
DFFA	1676	broad.mit.edu	37	1	10527261	10527261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:10527261C>T	uc001arj.2	-	3	525	c.427G>A	c.(427-429)GAG>AAG	p.E143K	DFFA_uc001ark.2_Missense_Mutation_p.E143K	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	143					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGTCCTCCTCTGATAGGAGG	0.532		NaN											0	0	0	0.000175454	0	19	114				
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	C	A	rs145888614	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:29379626C>A	uc001brm.1	+	11	1654	c.1647C>A	c.(1645-1647)GTC>GTA	p.V549V	EPB41_uc001brg.1_Silent_p.V340V|EPB41_uc001brh.1_Silent_p.V340V|EPB41_uc001bri.1_Silent_p.V514V|EPB41_uc001brj.1_Silent_p.V340V|EPB41_uc009vtk.1_Silent_p.V513V|EPB41_uc001brk.2_Silent_p.V549V|EPB41_uc001brl.1_Silent_p.V549V|EPB41_uc009vtl.1_Silent_p.V340V|EPB41_uc009vtm.1_Silent_p.V182V	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	549	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483		NaN											1	0	5.50884e-06	0.00010058	6.41337e-05	10	32				
S100PBP	64766	broad.mit.edu	37	1	33292110	33292110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:33292110C>G	uc001bvz.2	+	3	687	c.410C>G	c.(409-411)TCT>TGT	p.S137C	S100PBP_uc001bwa.1_Missense_Mutation_p.S137C|S100PBP_uc001bwb.1_Missense_Mutation_p.S137C|S100PBP_uc001bwc.2_Missense_Mutation_p.S137C|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	137						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACAGACGCTCTGTACTAGAA	0.418		NaN											0	0	0	8.12818e-05	0	5	31				
ERI3	79033	broad.mit.edu	37	1	44804820	44804820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:44804820C>T	uc001clt.2	-	3	627	c.386G>A	c.(385-387)GGC>GAC	p.G129D	ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.G129D|ERI3_uc010okw.1_Missense_Mutation_p.G51D|ERI3_uc001clu.2_Missense_Mutation_p.G51D	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	129						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						CATGGATGCGCCAAAGCCGTG	0.542		NaN											0	0	0	0.000308642	0	15	187				
GBP5	115362	broad.mit.edu	37	1	89729593	89729593	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:89729593C>T	uc001dnc.2	-	9	1725	c.1188G>A	c.(1186-1188)CGG>CGA	p.R396R	GBP5_uc001dnd.2_Silent_p.R396R|GBP5_uc001dne.1_Silent_p.R396R	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	396						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTCCAGGTTCCGTTTACAAA	0.383		NaN											0	0	0	0.000308642	0	15	122				
S1PR1	1901	broad.mit.edu	37	1	101705363	101705363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:101705363C>G	uc001dud.2	+	2	1337	c.823C>G	c.(823-825)CTG>GTG	p.L275V	S1PR1_uc009weg.2_Missense_Mutation_p.L275V	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	275	Helical; Name=6; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GCTCTTCATCCTGCTCCTGCT	0.582		NaN											0	0	0	0.000319135	0	38	244				
CTTNBP2NL	55917	broad.mit.edu	37	1	112998771	112998771	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:112998771A>G	uc001ebx.2	+	6	885	c.657A>G	c.(655-657)GAA>GAG	p.E219E	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	219	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAAGAAGAGTTGGCAG	0.512		NaN											0	0	0	0.000442599	0	9	59				
PDE4DIP	9659	broad.mit.edu	37	1	144859924	144859924	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:144859924G>A	uc001elw.3	-	38	6451	c.6160C>T	c.(6160-6162)CTG>TTG	p.L2054L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1948L|PDE4DIP_uc001elv.3_Silent_p.L1061L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2054	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCCCTCTCAGAGCTCGTACC	0.577		NaN	T	PDGFRB	MPD								0	0	0	0.000274275	0	9	100				
FLG	2312	broad.mit.edu	37	1	152284039	152284039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:152284039C>T	uc001ezu.1	-	3	3359	c.3323G>A	c.(3322-3324)GGG>GAG	p.G1108E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1108	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCTTCCCCCTGACCAGTC	0.582		NaN							Ichthyosis				0	0	0	0.000781405	0	57	258				
CRTC2	200186	broad.mit.edu	37	1	153921053	153921053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921053C>G	uc010ped.1	-	13	1812	c.1742G>C	c.(1741-1743)GGG>GCG	p.G581A	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.G117A	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	581					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAATCCAGGCCCTTCAGAAAA	0.567		NaN											0	0	0	0.000274275	0	8	109				
CRTC2	200186	broad.mit.edu	37	1	153921067	153921067	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921067A>G	uc010ped.1	-	13	1798	c.1728T>C	c.(1726-1728)CCT>CCC	p.P576P	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Silent_p.P112P	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	576					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAAAAGCCAGGGGGATCCA	0.542		NaN											0	0	0	0.000673444	0	10	108				
GON4L	54856	broad.mit.edu	37	1	155721969	155721969	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:155721969C>T	uc001flz.2	-	30	6352	c.6255G>A	c.(6253-6255)GTG>GTA	p.V2085V	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.V2084V|GON4L_uc009wrh.1_Silent_p.V2084V|GON4L_uc001fma.1_Silent_p.V2085V	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2085					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTTGTCTTCACCCGAGCTC	0.527		NaN											0	0	0	0.000308642	0	16	141				
LAMB3	3914	broad.mit.edu	37	1	209799289	209799289	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:209799289G>C	uc001hhg.2	-	13	2070	c.1680C>G	c.(1678-1680)ACC>ACG	p.T560T	LAMB3_uc009xco.2_Silent_p.T560T|LAMB3_uc001hhh.2_Silent_p.T560T|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	560	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCGGGGCCCGGTCAAGCCAG	0.647		NaN											0	0	0	0.000602214	0	5	57				
SPATA17	128153	broad.mit.edu	37	1	217915425	217915425	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:217915425C>T	uc001hlh.1	+	6	530	c.504C>T	c.(502-504)CTC>CTT	p.L168L	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.L168L	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	168						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGCATTACCTCCTCAGCACAA	0.473		NaN											0	0	0	8.12818e-05	0	7	85				
CDC42BPA	8476	broad.mit.edu	37	1	227316871	227316871	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:227316871G>A	uc001hqr.2	-	11	2395	c.1452C>T	c.(1450-1452)AGC>AGT	p.S484S	CDC42BPA_uc001hqs.2_Silent_p.S484S|CDC42BPA_uc009xes.2_Silent_p.S484S|CDC42BPA_uc010pvs.1_Silent_p.S484S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	484	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CTAAATCTTTGCTTGCTGTTA	0.289		NaN											0	0	0	0.000157383	0	7	62				
PLD5	200150	broad.mit.edu	37	1	242253336	242253336	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:242253336C>T	uc001hzn.1	-	10	1558	c.1431G>A	c.(1429-1431)AGG>AGA	p.R477R	PLD5_uc001hzl.3_Silent_p.R415R|PLD5_uc001hzm.3_Silent_p.R267R|PLD5_uc001hzo.1_Silent_p.R385R			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	477						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCTGTTGTTCCTCACATCTG	0.423		NaN											0	0	0	8.12818e-05	0	6	98				
OR2M2	391194	broad.mit.edu	37	1	248344190	248344190	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:248344190C>T	uc010pzf.1	+	1	903	c.903C>T	c.(901-903)TTC>TTT	p.F301F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTAGAGCATTCATGAAGATCT	0.423		NaN											0	0	0	0.000175454	0	21	105				
FAM171A1	221061	broad.mit.edu	37	10	15255261	15255261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:15255261C>T	uc001iob.2	-	8	2333	c.2326G>A	c.(2326-2328)GAG>AAG	p.E776K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	776	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GCTCGAGGCTCTTTCTGCTGG	0.577		NaN											0	0	0	0.000308642	0	13	64				
C10orf140	387640	broad.mit.edu	37	10	21805233	21805233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:21805233C>T	uc009xkd.2	-	4	3772	c.1519G>A	c.(1519-1521)GAC>AAC	p.D507N	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	426						nucleus	nucleotide binding			ovary(1)	1						CTCTTGAGGTCGGGAAGTCTG	0.652		NaN											0	0	0	0.000422831	0	17	93				
PIP4K2A	5305	broad.mit.edu	37	10	22828982	22828982	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:22828982T>A	uc001irl.3	-	9	1306	c.1058A>T	c.(1057-1059)TAC>TTC	p.Y353F	PIP4K2A_uc010qcu.1_Missense_Mutation_p.Y213F	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	353	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						TGCCATGAAGTACACCTCCTT	0.478		NaN											0	0	0	0.000191422	0	37	91				
CPEB3	22849	broad.mit.edu	37	10	93952323	93952323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:93952323G>C	uc001khw.1	-	3	1249	c.1076C>G	c.(1075-1077)ACT>AGT	p.T359S	CPEB3_uc001khu.1_Missense_Mutation_p.T359S|CPEB3_uc001khv.1_Missense_Mutation_p.T359S|CPEB3_uc010qnn.1_Missense_Mutation_p.T359S	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	359							nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				TTCATGATCAGTCCTTATCAT	0.403		NaN											0	0	0	3.59834e-05	0	6	19				
RAG2	5897	broad.mit.edu	37	11	36615460	36615460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:36615460C>G	uc001mwv.3	-	2	447	c.259G>C	c.(259-261)GAA>CAA	p.E87Q	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	87					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGATGCTTTTCAGACTCCAAG	0.418		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.000175454	0	20	366				
EXT2	2132	broad.mit.edu	37	11	44135765	44135765	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:44135765G>C	uc001mxz.2	+	4	991	c.657G>C	c.(655-657)ACG>ACC	p.T219T	EXT2_uc010rfo.1_Silent_p.T247T|EXT2_uc001mxy.2_Silent_p.T232T|EXT2_uc009ykt.2_Silent_p.T219T|EXT2_uc001mya.2_Silent_p.T252T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	219	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						GCTTTTCTACGTGGACTTACC	0.473		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				0	0	0	8.12818e-05	0	7	94				
OR4A47	403253	broad.mit.edu	37	11	48511224	48511224	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:48511224A>G	uc010rhx.1	+	1	880	c.880A>G	c.(880-882)AGT>GGT	p.S294G		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGAGATGACAAGTGCTATGAA	0.418		NaN											0	0	0	6.4e-05	0	3	56				
OR8J1	219477	broad.mit.edu	37	11	56128191	56128191	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:56128191A>G	uc010rjh.1	+	1	469	c.469A>G	c.(469-471)ATT>GTT	p.I157V		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TTCTACAGCTATTGTGGTTTC	0.423		NaN											0	0	0	0.00024832	0	4	36				
STX3	6809	broad.mit.edu	37	11	59554605	59554605	+	Missense_Mutation	SNP	G	G	C	rs140824363		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:59554605G>C	uc001nog.2	+	3	400	c.210G>C	c.(208-210)GAG>GAC	p.E70D	STX3_uc010rkx.1_Missense_Mutation_p.E70D|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_5'UTR	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	70	Cytoplasmic (Potential).|Potential.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						CGATTCCAGAGCCAAGTGAGT	0.448		NaN											0	0	0	8.12818e-05	0	6	43				
LTBP3	4054	broad.mit.edu	37	11	65308027	65308027	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:65308027G>A	uc001oej.2	-	22	3305	c.3036C>T	c.(3034-3036)AAC>AAT	p.N1012N	LTBP3_uc001oef.2_Silent_p.N15N|LTBP3_uc001oeg.2_Silent_p.N15N|LTBP3_uc001oeh.2_Silent_p.N442N|LTBP3_uc010roi.1_Silent_p.N895N|LTBP3_uc001oei.2_Silent_p.N1012N|LTBP3_uc010roj.1_Silent_p.N713N|LTBP3_uc010rok.1_Silent_p.N923N	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	1012	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CAGGCTGCGTGTTCACGCACT	0.642		NaN									OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000295444	0	22	131				
ARHGEF17	9828	broad.mit.edu	37	11	73073578	73073578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:73073578C>T	uc001otu.2	+	14	4816	c.4795C>T	c.(4795-4797)CTC>TTC	p.L1599F		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1599					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						AGCCGCGACGCTCGCGGAGCC	0.731		NaN											0	0	0	8.12818e-05	0	5	32				
HEPHL1	341208	broad.mit.edu	37	11	93796804	93796804	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:93796804G>C	uc001pep.2	+	3	703	c.546G>C	c.(544-546)CTG>CTC	p.L182L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	182	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAACTGCCTGACCTGGGTGT	0.532		NaN											0	0	0	0.000602214	0	5	47				
SESN3	143686	broad.mit.edu	37	11	94911061	94911061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:94911061C>T	uc001pfk.1	-	8	1291	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K	SESN3_uc010rug.1_Missense_Mutation_p.E218K	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	357					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CCATGATTTTCCCAGGTATAG	0.313		NaN											0	0	0	0.000602214	0	5	15				
DSCAML1	57453	broad.mit.edu	37	11	117667803	117667803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:117667803G>C	uc001prh.1	-	1	174	c.172C>G	c.(172-174)CTT>GTT	p.L58V	DSCAML1_uc001pri.1_Intron	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	Error:Variant_position_missing_in_Q8TD84_after_alignment					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGCCATAAAGAGGCCCTATT	0.542		NaN											0	0	0	6.4e-05	0	3	50				
NCAPD2	9918	broad.mit.edu	37	12	6638150	6638150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:6638150C>T	uc001qoo.2	+	27	3563	c.3517C>T	c.(3517-3519)CGC>TGC	p.R1173C	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1128C	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1173					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TATCATCAGCCGCCTGTCAGA	0.517		NaN											0	0	0	0.000566183	0	15	81				
A2ML1	144568	broad.mit.edu	37	12	9020633	9020633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:9020633C>T	uc001quz.3	+	30	4011	c.3913C>T	c.(3913-3915)CAG>TAG	p.Q1305*	A2ML1_uc001qva.1_Nonsense_Mutation_p.Q885*|A2ML1_uc010sgm.1_Nonsense_Mutation_p.Q805*|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1149						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGCCTCAGGCCAGGGCTGTGT	0.507		NaN											0	0	0	0.000274275	0	8	73				
ITPR2	3709	broad.mit.edu	37	12	26818878	26818878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:26818878G>A	uc001rhg.2	-	14	1933	c.1516C>T	c.(1516-1518)CAA>TAA	p.Q506*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	506	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ATCAATTTTTGACGCTCTCGG	0.348		NaN											0	0	0	0.000442599	0	9	67				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452896	100452896	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:100452896T>A	uc001tgq.2	-	14	2388	c.2159A>T	c.(2158-2160)GAC>GTC	p.D720V	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.D370V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	720										ovary(2)	2						AGGGAATGAGTCTACAAAACT	0.398		NaN											0	0	0	8.12818e-05	0	7	65				
TBX5	6910	broad.mit.edu	37	12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:114793599G>A	uc001tvo.2	-	9	1790	c.1295C>T	c.(1294-1296)TCG>TTG	p.S432L	TBX5_uc001tvp.2_Missense_Mutation_p.S432L|TBX5_uc001tvq.2_Missense_Mutation_p.S382L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGGGCCCCGAGGTGAAGTG	0.647		NaN											0	0	0	3.59834e-05	0	5	31				
GLT1D1	144423	broad.mit.edu	37	12	129432001	129432001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:129432001G>A	uc010tbh.1	+	11	802	c.793G>A	c.(793-795)GAG>AAG	p.E265K	GLT1D1_uc001uhx.1_Missense_Mutation_p.E180K|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	260					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAATTTTGGAGGTAATTAT	0.458		NaN											0	0	0	0.000151284	0	10	65				
EP400	57634	broad.mit.edu	37	12	132446281	132446281	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:132446281T>C	uc001ujn.2	+	1	1152	c.1117T>C	c.(1117-1119)TAC>CAC	p.Y373H	EP400_uc001ujl.2_Missense_Mutation_p.Y373H|EP400_uc001ujm.2_Missense_Mutation_p.Y373H|EP400_uc001ujj.1_Missense_Mutation_p.Y373H|EP400_uc001ujk.2_Missense_Mutation_p.Y373H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	373					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACTATCATTACCAGGAGAT	0.473		NaN											0	0	0	0.000157383	0	8	66				
RASL11A	387496	broad.mit.edu	37	13	27845086	27845086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:27845086G>C	uc001urd.1	+	1	623	c.5G>C	c.(4-6)CGG>CCG	p.R2P		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	2					positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CGCTCCATGCGGCCGCTCAGC	0.706		NaN											0	0	0	6.4e-05	0	2	1				
CYSLTR2	57105	broad.mit.edu	37	13	49281341	49281341	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:49281341A>G	uc010acx.1	+	6	1071	c.388A>G	c.(388-390)ACC>GCC	p.T130A	CYSLTR2_uc010acy.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acz.1_Missense_Mutation_p.T130A|CYSLTR2_uc010ada.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adb.1_Missense_Mutation_p.T130A|CYSLTR2_uc010adc.1_Missense_Mutation_p.T130A|CYSLTR2_uc010add.1_Missense_Mutation_p.T130A|CYSLTR2_uc010acw.1_Missense_Mutation_p.T130A|CYSLTR2_uc001vck.2_Missense_Mutation_p.T130A	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	130	Helical; Name=3; (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTTCCTGACCGTGCTGAG	0.468		NaN											0	0	0	6.4e-05	0	3	79				
KLHL1	57626	broad.mit.edu	37	13	70681399	70681399	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:70681399G>A	uc001vip.2	-	1	1227	c.433C>T	c.(433-435)CTG>TTG	p.L145L	KLHL1_uc010thm.1_Silent_p.L145L|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	145					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCTCTTGCAGAACCAGCCCT	0.557		NaN											0	0	0	0.000586117	0	23	122				
F10	2159	broad.mit.edu	37	13	113795343	113795343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:113795343G>C	uc001vsx.2	+	5	538	c.481G>C	c.(481-483)GGC>CGC	p.G161R	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.G161R|F10_uc001vsz.2_Missense_Mutation_p.G161R	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	161	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACAACGGCAAGGCCTG	0.682		NaN											0	0	0	0.000602214	0	4	46				
TEP1	7011	broad.mit.edu	37	14	20876196	20876196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:20876196G>C	uc001vxe.2	-	2	443	c.403C>G	c.(403-405)CAC>GAC	p.H135D	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H135D	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	135					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCGTCATGTGAGATATCTGT	0.527		NaN											0	0	0	0.000219431	0	15	168				
THTPA	79178	broad.mit.edu	37	14	24028017	24028017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:24028017G>A	uc001wkh.3	+	3	1031	c.661G>A	c.(661-663)GAG>AAG	p.E221K	THTPA_uc001wkb.3_RNA|THTPA_uc001wkg.3_Missense_Mutation_p.E221K|THTPA_uc010akr.2_RNA|THTPA_uc001wki.3_3'UTR|uc001wko.1_5'Flank	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN	thiamine triphosphatase	221					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity				0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GAGGCCACAGGAGACTGAAGA	0.572		NaN									OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602214	0	5	46				
G2E3	55632	broad.mit.edu	37	14	31077178	31077178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:31077178C>G	uc001wqk.2	+	12	1557	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C	G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.S422C	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	468	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GGTTTCTTTTCTAAAACCTTG	0.378		NaN											0	0	0	0.000157383	0	8	39				
C14orf181	400223	broad.mit.edu	37	14	69262546	69262546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:69262546G>C	uc001xkj.1	-	1	645	c.466C>G	c.(466-468)CTC>GTC	p.L156V	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		AGGGAGCCGAGAGGAGGGAGC	0.602		NaN											0	0	0	6.40141e-05	0	12	107				
PDIA3	2923	broad.mit.edu	37	15	44061801	44061801	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:44061801A>G	uc001zsu.2	+	10	1371	c.1223A>G	c.(1222-1224)CAC>CGC	p.H408R	PDIA3_uc010bdp.2_Missense_Mutation_p.H388R|PDIA3_uc010ued.1_Missense_Mutation_p.H182R	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	408	Thioredoxin 2.	Contributes to redox potential value (By similarity).			cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TGGTGTGGTCACTGTAAGAAC	0.393		NaN											0	0	0	0.00010058	0	11	73				
MYEF2	50804	broad.mit.edu	37	15	48443319	48443319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:48443319C>T	uc001zwi.3	-	14	1480	c.1356G>A	c.(1354-1356)ATG>ATA	p.M452I	MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_Intron|MYEF2_uc001zwj.3_Intron	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	452	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTACTGGACCCATGTTAGAAG	0.323		NaN											0	0	0	0.000602214	0	5	26				
UNC13C	440279	broad.mit.edu	37	15	54586192	54586192	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:54586192T>C	uc002ack.2	+	9	3918	c.3918T>C	c.(3916-3918)GAT>GAC	p.D1306D	UNC13C_uc002acl.2_Silent_p.D136D	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1306	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAGTCAGATGATTTTCTGG	0.368		NaN											0	0	0	0.000175454	0	19	80				
HAGH	3029	broad.mit.edu	37	16	1859330	1859330	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:1859330C>A	uc002cna.2	-	9	1288	c.881G>T	c.(880-882)CGG>CTG	p.R294L	HAGH_uc002cmz.2_Missense_Mutation_p.R246L|HAGH_uc010uvp.1_3'UTR|HAGH_uc002cnb.1_3'UTR	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	294					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCGCACGGCCCGCATGGTGGT	0.662		NaN											1	0	0.000442599	0.000442599	0.00505904	9	175				
TMC7	79905	broad.mit.edu	37	16	19058553	19058553	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:19058553C>T	uc002dfq.2	+	12	1852	c.1722C>T	c.(1720-1722)ATC>ATT	p.I574I	TMC7_uc002dfp.2_Silent_p.I574I|TMC7_uc010vap.1_Silent_p.I464I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	574	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						AATTCATTATCATCTTCTATG	0.368		NaN											0	0	0	0.000319135	0	39	314				
EEF2K	29904	broad.mit.edu	37	16	22269882	22269882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:22269882C>T	uc002dki.2	+	10	1582	c.1097C>T	c.(1096-1098)TCT>TTT	p.S366F	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	366					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		AGGACCCTCTCTGGGAGCCGG	0.547		NaN											0	0	0	0.000279167	0	30	68				
ALDOA	226	broad.mit.edu	37	16	30080666	30080666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:30080666G>A	uc002dvw.2	+	9	1708	c.580G>A	c.(580-582)GAT>AAT	p.D194N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.D194N|ALDOA_uc002dvy.2_Missense_Mutation_p.D194N|ALDOA_uc002dvz.2_Missense_Mutation_p.D194N|ALDOA_uc002dwa.3_Missense_Mutation_p.D194N|ALDOA_uc002dwb.1_Missense_Mutation_p.D194N|ALDOA_uc002dwc.2_Missense_Mutation_p.D194N|ALDOA_uc010veg.1_Missense_Mutation_p.D248N|ALDOA_uc002dwd.2_Missense_Mutation_p.D198N	NM_184043	NP_908932	P04075	ALDOA_HUMAN	fructose-bisphosphate aldolase A	194					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			lung(1)	1						GATCCTCCCTGATGGGGACCA	0.602		NaN									OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000219431	0	12	88				
NETO2	81831	broad.mit.edu	37	16	47162452	47162452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:47162452C>T	uc002eer.1	-	4	650	c.265G>A	c.(265-267)GAT>AAT	p.D89N	NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.D89N	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	89	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TAATGTTCATCAAAGGTCAAC	0.358		NaN								HNSCC(25;0.065)			0	0	0	0.000566183	0	14	125				
FHOD1	29109	broad.mit.edu	37	16	67263612	67263612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:67263612G>A	uc002esl.2	-	22	3534	c.3422C>T	c.(3421-3423)ACG>ATG	p.T1141M	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.T200M|FHOD1_uc010ced.2_Missense_Mutation_p.T948M	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1141					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACTCTTCAACGTCCTTCTCAC	0.582		NaN											0	0	0	0.000958276	0	18	108				
MBTPS1	8720	broad.mit.edu	37	16	84096944	84096944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:84096944G>C	uc002fhi.2	-	19	3040	c.2538C>G	c.(2536-2538)GAC>GAG	p.D846E	MBTPS1_uc002fhh.2_Missense_Mutation_p.D350E	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	846	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						AGCAATTGGAGTCCCCATACA	0.478		NaN									OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	3.59834e-05	0	5	140				
BANP	54971	broad.mit.edu	37	16	88039762	88039762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:88039762C>G	uc002fkr.2	+	6	743	c.519C>G	c.(517-519)CAC>CAG	p.H173Q	BANP_uc002fkp.2_Missense_Mutation_p.H143Q|BANP_uc002fkq.2_Missense_Mutation_p.H143Q|BANP_uc010vow.1_Missense_Mutation_p.H181Q|BANP_uc002fks.3_Missense_Mutation_p.H142Q|BANP_uc002fko.1_Missense_Mutation_p.H79Q|BANP_uc010vov.1_Missense_Mutation_p.H148Q	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	174	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACAGCCACCACGAGGACGGGG	0.627		NaN											0	0	0	0.00074312	0	14	123				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.000878237	0	24	79		Valid		
KDM6B	23135	broad.mit.edu	37	17	7749991	7749991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7749991C>T	uc002giw.1	+	8	1020	c.644C>T	c.(643-645)TCA>TTA	p.S215L	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	215	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GCAGCACTCTCAGGCCCCTCA	0.637		NaN											0	0	0	0.000308642	0	15	86				
MYH13	8735	broad.mit.edu	37	17	10248880	10248880	+	Silent	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10248880C>A	uc002gmk.1	-	14	1407	c.1317G>T	c.(1315-1317)CTG>CTT	p.L439L	MYH13_uc010vvf.1_Silent_p.L114L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	439	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGACCATCCACAGGAACATCT	0.517		NaN											1	0	1.12685e-05	0.000274275	0.000130383	6	137				
C17orf48	56985	broad.mit.edu	37	17	10614321	10614321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10614321G>A	uc002gmt.2	+	4	964	c.889G>A	c.(889-891)GAA>AAA	p.E297K	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	297							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CGTCAACCTAGAAGGAGTTAT	0.463		NaN											0	0	0	0.000274275	0	8	51				
NCOR1	9611	broad.mit.edu	37	17	15989705	15989705	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:15989705C>G	uc002gpo.2	-	23	3308	c.3068G>C	c.(3067-3069)CGG>CCG	p.R1023P	NCOR1_uc002gpn.2_Missense_Mutation_p.R1039P|NCOR1_uc002gpp.1_Missense_Mutation_p.R930P|NCOR1_uc002gpq.1_Missense_Mutation_p.R115P	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1023	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGTCGGAAGCCGAACGCCTTC	0.458		NaN											0	0	0	8.12818e-05	0	7	37		Valid		
THRA	7067	broad.mit.edu	37	17	38244572	38244572	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38244572C>T	uc002htw.2	+	8	1284	c.801C>T	c.(799-801)TAC>TAT	p.Y267Y	THRA_uc010cwp.1_Silent_p.Y267Y|THRA_uc002htv.2_Silent_p.Y267Y|THRA_uc002htx.2_Silent_p.Y267Y	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	267	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTGTCCGCTACGACCCTGAGA	0.637		NaN											0	0	0	0.000219431	0	12	87				
NBR1	4077	broad.mit.edu	37	17	41331419	41331419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:41331419C>G	uc010czd.2	+	4	314	c.174C>G	c.(172-174)ATC>ATG	p.I58M	NBR1_uc010diz.2_Missense_Mutation_p.I58M|NBR1_uc010whu.1_Missense_Mutation_p.I58M|NBR1_uc010whv.1_Missense_Mutation_p.I58M|NBR1_uc010whw.1_Missense_Mutation_p.I37M	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	58	OPR.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGGTATCCATCAACAGTCAAG	0.378		NaN											0	0	0	0.000602214	0	4	47				
TEX2	55852	broad.mit.edu	37	17	62254697	62254697	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:62254697G>T	uc002jec.2	-	6	2732	c.2559C>A	c.(2557-2559)CTC>CTA	p.L853L	TEX2_uc002jed.2_Silent_p.L860L|TEX2_uc002jee.2_Silent_p.L853L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	853					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTATTTTGCTGAGTTTCATTT	0.378		NaN											1	0	2.12542e-12	0.000147802	2.55321e-11	29	168				
SDK2	54549	broad.mit.edu	37	17	71394562	71394562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:71394562C>T	uc010dfm.2	-	23	3100	c.3100G>A	c.(3100-3102)GTG>ATG	p.V1034M	SDK2_uc002jjt.3_Missense_Mutation_p.V193M|SDK2_uc010dfn.2_Missense_Mutation_p.V713M	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1034	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TCCCCAACCACGCCTACCTGG	0.627		NaN											0	0	0	0.000442599	0	10	110				
RNF213	57674	broad.mit.edu	37	17	78319411	78319411	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:78319411A>G	uc002jyh.1	+	4	1718	c.1495A>G	c.(1495-1497)AAA>GAA	p.K499E		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCTGTGGGAAAACCAGGCT	0.502		NaN											0	0	0	0.000586117	0	22	155				
GALR1	2587	broad.mit.edu	37	18	74963033	74963033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr18:74963033T>C	uc002lms.3	+	1	1026	c.529T>C	c.(529-531)TTC>CTC	p.F177L		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	177	Extracellular (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCAGGGCCTCTTCCACCCGCG	0.677		NaN											0	0	0	0.000132079	0	18	54				
CD79A	973	broad.mit.edu	37	19	42383361	42383361	+	Splice_Site	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:42383361T>G	uc002orv.2	+	2	564	c.379_splice	c.e2+2	p.Q127_splice	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor						B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						GCGTGCGCCGTGAGTGGCCCA	0.592		NaN	O|S		DLBCL								0	0	0	0.00010058	0	10	15				
PEG3	5178	broad.mit.edu	37	19	57328456	57328456	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:57328456A>G	uc002qnu.2	-	7	1705	c.1354T>C	c.(1354-1356)TAT>CAT	p.Y452H	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y423H|PEG3_uc002qnv.2_Missense_Mutation_p.Y452H|PEG3_uc002qnw.2_Missense_Mutation_p.Y328H|PEG3_uc002qnx.2_Missense_Mutation_p.Y326H|PEG3_uc010etr.2_Missense_Mutation_p.Y452H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	452	C2H2-type 1.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACATACATATGGCATTGCC	0.488		NaN											0	0	0	0.000157383	0	6	87				
ALK	238	broad.mit.edu	37	2	29917721	29917721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:29917721G>C	uc002rmy.2	-	3	1854	c.947C>G	c.(946-948)CCC>CGC	p.P316R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	316	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTTACCTCTGGGCATCTCCTT	0.587		NaN	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				0	0	0	0.000227799	0	25	80				
MOGS	7841	broad.mit.edu	37	2	74688895	74688895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:74688895C>T	uc010ffj.2	-	4	2184	c.2021G>A	c.(2020-2022)CGG>CAG	p.R674Q	MOGS_uc010ffh.2_Missense_Mutation_p.R399Q|MOGS_uc010yrt.1_Missense_Mutation_p.R555Q|MOGS_uc010ffi.2_Missense_Mutation_p.R568Q	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	674	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						ACCCACCACCCGAACGAGCCC	0.582		NaN											0	0	0	0.000442599	0	9	99				
SEMA4C	54910	broad.mit.edu	37	2	97530101	97530101	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:97530101C>T	uc002sxh.3	-	10	1141	c.981G>A	c.(979-981)TCG>TCA	p.S327S	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.S380S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	327	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						CACAGATGGCCGACAGGTACA	0.582		NaN											0	0	0	0.00074312	0	16	162				
DDX18	8886	broad.mit.edu	37	2	118575041	118575041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:118575041C>T	uc002tlh.1	+	2	206	c.107C>T	c.(106-108)TCG>TTG	p.S36L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	36							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						CTGACCCTATCGGAAACTCAA	0.358		NaN											0	0	0	0.000157383	0	7	87				
COL5A2	1290	broad.mit.edu	37	2	189904075	189904075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:189904075C>T	uc002uqk.2	-	51	4123	c.3848G>A	c.(3847-3849)CGC>CAC	p.R1283H	COL5A2_uc010frx.2_Missense_Mutation_p.R859H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1283	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCGGGGCTGCGCATGGTTTC	0.522		NaN											0	0	0	0.000157383	0	7	53				
DIS3L2	129563	broad.mit.edu	37	2	233198629	233198629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:233198629C>T	uc010fxz.2	+	17	2366	c.2090C>T	c.(2089-2091)ACA>ATA	p.T697I	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	697							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCCCTGTACACACACTTCACC	0.662		NaN											0	0	0	0.00074312	0	18	92				
C20orf26	26074	broad.mit.edu	37	20	20279020	20279020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:20279020G>A	uc002wru.2	+	25	3488	c.3412G>A	c.(3412-3414)GAT>AAT	p.D1138N	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1138										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCTGATCACAGATCTCTATAG	0.468		NaN											0	0	0	0.000442599	0	8	57				
ATP9A	10079	broad.mit.edu	37	20	50224073	50224073	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:50224073G>A	uc002xwg.1	-	26	2796	c.2796C>T	c.(2794-2796)ATC>ATT	p.I932I	ATP9A_uc010gih.1_Silent_p.I796I|ATP9A_uc002xwf.1_Silent_p.I104I	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	932	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TACCTTGATAGATGCTAATCA	0.488		NaN											0	0	0	0.000151284	0	12	39				
PTK6	5753	broad.mit.edu	37	20	62168507	62168507	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:62168507C>T	uc002yfg.2	-	1	201	c.161G>A	c.(160-162)GGT>GAT	p.G54D	PTK6_uc011aay.1_Translation_Start_Site|PTK6_uc011aba.1_Missense_Mutation_p.G54D	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	54	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CACGGCCCCACCCGCCTCGTC	0.692		NaN											0	0	0	0.000308642	0	14	18				
MX1	4599	broad.mit.edu	37	21	42823170	42823170	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:42823170G>A	uc002yzh.2	+	17	2456	c.1509G>A	c.(1507-1509)AAG>AAA	p.K503K	MX1_uc002yzi.2_Silent_p.K503K|MX1_uc010goq.2_Silent_p.K503K	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	503					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAACCGCCAAGGTAAAACCAA	0.308		NaN											0	0	0	0.000781405	0	119	244				
ITGB2	3689	broad.mit.edu	37	21	46306710	46306710	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:46306710T>C	uc002zgd.2	-	14	2232	c.2188A>G	c.(2188-2190)AGC>GGC	p.S730G	ITGB2_uc002zge.2_Missense_Mutation_p.S730G|ITGB2_uc002zgf.3_Missense_Mutation_p.S730G|ITGB2_uc011afl.1_Missense_Mutation_p.S652G|ITGB2_uc010gpw.2_Missense_Mutation_p.S673G|ITGB2_uc002zgg.2_Missense_Mutation_p.S730G	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	730	Cytoplasmic (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGAGGTCGCTCAGGTGGATC	0.627		NaN											0	0	0	6.4e-05	0	3	63				
EIF4ENIF1	56478	broad.mit.edu	37	22	31839041	31839041	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr22:31839041T>C	uc003akz.1	-	16	2277	c.2113A>G	c.(2113-2115)ATG>GTG	p.M705V	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.M360V|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.M385V|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.M705V|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.M531V|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.M195V	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	705						nucleus	protein binding|protein transporter activity			ovary(1)	1						CTCTCGTACATCTTACGAATC	0.458		NaN											0	0	0	0.000422831	0	16	49				
TRANK1	9881	broad.mit.edu	37	3	36872485	36872485	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:36872485T>C	uc003cgj.2	-	12	7109	c.6807A>G	c.(6805-6807)GTA>GTG	p.V2269V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2819					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGTGGATCCATACACTTTGCT	0.532		NaN											0	0	0	0.000781405	0	43	143				
KLHDC8B	200942	broad.mit.edu	37	3	49213182	49213182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:49213182C>T	uc003cwh.2	+	6	1198	c.1013C>T	c.(1012-1014)GCC>GTC	p.A338V	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	338	Kelch 8.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGGTGTGGCCCAGGGCCCC	0.662		NaN											0	0	0	0.000673444	0	10	58				
TRAT1	50852	broad.mit.edu	37	3	108565976	108565976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:108565976G>A	uc003dxi.1	+	4	358	c.214G>A	c.(214-216)GAA>AAA	p.E72K	TRAT1_uc010hpx.1_Missense_Mutation_p.E35K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	72	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						TATGATTTCAGGTAAGTTTTC	0.274		NaN											0	0	0	0.000602214	0	5	30				
ZDHHC23	254887	broad.mit.edu	37	3	113675335	113675335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:113675335G>A	uc003eau.2	+	4	1321	c.1022G>A	c.(1021-1023)GGA>GAA	p.G341E	ZDHHC23_uc003eav.2_Missense_Mutation_p.G335E|ZDHHC23_uc003eaw.1_5'Flank	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23	341						integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						TATTGTCCTGGAGTTTATGCA	0.463		NaN											0	0	0	3.59834e-05	0	6	72				
COL6A6	131873	broad.mit.edu	37	3	130311550	130311550	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:130311550G>T	uc010htl.2	+	14	4386	c.4355G>T	c.(4354-4356)GGA>GTA	p.G1452V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1452	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGAAACAGAGGACTAAATGGA	0.313		NaN											1	0	4.34311e-12	0.00058488	5.18424e-11	28	124				
PPP2R3A	5523	broad.mit.edu	37	3	135721343	135721343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:135721343G>A	uc003eqv.1	+	2	1568	c.1003G>A	c.(1003-1005)GAA>AAA	p.E335K	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	335					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CCCTAAATATGAAGATGTTGT	0.413		NaN											0	0	0	0.000442599	0	7	65				
PIK3CB	5291	broad.mit.edu	37	3	138478132	138478132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:138478132C>T	uc011bmq.1	-	1	54	c.54G>A	c.(52-54)TGG>TGA	p.W18*		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	18					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AATCCACCGCCCAGATGTCAA	0.463		NaN											0	0	0	0.000602214	0	5	46				
SLC33A1	9197	broad.mit.edu	37	3	155571496	155571496	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:155571496G>A	uc003fan.3	-	1	672	c.291C>T	c.(289-291)CTC>CTT	p.L97L	SLC33A1_uc003fao.1_Silent_p.L97L	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	97	Extracellular (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCAAAATGAGTGGGATGC	0.483		NaN											0	0	0	0.000157383	0	8	74				
GFM1	85476	broad.mit.edu	37	3	158408110	158408110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:158408110G>A	uc003fce.2	+	16	2175	c.2068G>A	c.(2068-2070)GAT>AAT	p.D690N	GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.D621N	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	690					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACTGTATGCAGATGTAAGTAG	0.408		NaN											0	0	0	0.000442599	0	9	80				
ACTL6A	86	broad.mit.edu	37	3	179301231	179301231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:179301231C>T	uc003fjw.2	+	12	1290	c.1117C>T	c.(1117-1119)CCT>TCT	p.P373S	ACTL6A_uc003fjx.2_Missense_Mutation_p.P331S|ACTL6A_uc003fjy.2_Missense_Mutation_p.P331S	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	373					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGAAAACTCCTCCAGTAAG	0.368		NaN											0	0	0	0.000442599	0	9	82				
KIAA1530	57654	broad.mit.edu	37	4	1374711	1374711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1374711G>A	uc003gde.3	+	12	2243	c.1796G>A	c.(1795-1797)CGG>CAG	p.R599Q	KIAA1530_uc010ibv.2_Missense_Mutation_p.R150Q	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	599											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GACGAAGGACGGCCGCTCGAC	0.677		NaN											0	0	0	0.00074312	0	13	54				
FAM53A	152877	broad.mit.edu	37	4	1643302	1643302	+	Silent	SNP	G	G	A	rs151156399		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1643302G>A	uc011bve.1	-	5	1113	c.915C>T	c.(913-915)CTC>CTT	p.L305L	FAM53A_uc010ibw.2_Nonsense_Mutation_p.Q357*	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	305						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTTCGTAATTGAGGGAGCAAA	0.502		NaN											0	0	0	0.000781405	0	43	319				
TACC3	10460	broad.mit.edu	37	4	1730206	1730206	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1730206G>C	uc003gdo.2	+	4	1185	c.1077G>C	c.(1075-1077)GAG>GAC	p.E359D	TACC3_uc010ibz.2_Missense_Mutation_p.E359D|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	359						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GACTGGGAGAGAGGTCCGGCC	0.597		NaN											0	0	0	3.59834e-05	0	5	73				
HAUS3	79441	broad.mit.edu	37	4	2242103	2242103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2242103G>A	uc003ges.1	-	2	801	c.571C>T	c.(571-573)CCA>TCA	p.P191S	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.P191S|HAUS3_uc003get.1_Missense_Mutation_p.P191S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	191					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						aataccagtggatttgtccct	0.035		NaN											0	0	0	0.000602214	0	5	27				
SH3BP2	6452	broad.mit.edu	37	4	2831314	2831314	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2831314C>T	uc003gfi.3	+	8	801	c.681C>T	c.(679-681)ACC>ACT	p.T227T	SH3BP2_uc011bvp.1_Silent_p.T255T|SH3BP2_uc003gfj.3_Silent_p.T284T|SH3BP2_uc003gfk.3_Silent_p.T227T|SH3BP2_uc003gfl.3_Silent_p.T160T|SH3BP2_uc003gfm.3_Silent_p.T202T	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	227					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCTTTACCTCCAAGGGCC	0.677		NaN							Cherubism				0	0	0	0.000151284	0	13	101				
C1QTNF7	114905	broad.mit.edu	37	4	15444248	15444248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:15444248C>T	uc011bxb.1	+	3	922	c.695C>T	c.(694-696)TCG>TTG	p.S232L	C1QTNF7_uc003gno.2_Missense_Mutation_p.S239L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.S232L	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	232	C1q.					collagen					0						GATGTGGCTTCGGGGTCCACA	0.502		NaN											0	0	0	0.000781405	0	60	96				
GRID2	2895	broad.mit.edu	37	4	94006340	94006340	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:94006340C>G	uc011cdt.1	+	3	697	c.439C>G	c.(439-441)CGC>GGC	p.R147G	GRID2_uc010ikx.2_Missense_Mutation_p.R147G|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	147	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTCTCAGTTCGCCCACCTGT	0.478		NaN											0	0	0	0.000602214	0	5	27				
FBXW7	55294	broad.mit.edu	37	4	153244124	153244124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:153244124G>C	uc003ims.2	-	12	2182	c.2033C>G	c.(2032-2034)TCA>TGA	p.S678*	FBXW7_uc011cii.1_Nonsense_Mutation_p.S678*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S678*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S502*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S598*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S560*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	678					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTGTGTTTGAGGCTCTGAT	0.493		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.000781405	0	47	52		Valid		
GALNTL6	442117	broad.mit.edu	37	4	173269794	173269794	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:173269794G>A	uc003isv.2	+	5	1243	c.507G>A	c.(505-507)GGG>GGA	p.G169G		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	169	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GAACCCCAGGGAGTCTGATAG	0.403		NaN											0	0	0	0.000219431	0	14	29				
RASA1	5921	broad.mit.edu	37	5	86645051	86645051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:86645051C>G	uc003kiw.2	+	8	1241	c.1123C>G	c.(1123-1125)CTT>GTT	p.L375V	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L198V|RASA1_uc011ctv.1_Missense_Mutation_p.L208V|RASA1_uc011ctw.1_Missense_Mutation_p.L209V|RASA1_uc010jaw.2_Missense_Mutation_p.L197V	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	375	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCAGTTTTCTTGTGAGGCC	0.333		NaN											0	0	0	0.000157383	0	8	32				
FSTL4	23105	broad.mit.edu	37	5	132736544	132736544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:132736544G>A	uc003kyn.1	-	4	513	c.295C>T	c.(295-297)CCT>TCT	p.P99S		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	99	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCACACAGGCACGTAGCTG	0.602		NaN											0	0	0	0.000175454	0	19	46				
KDM3B	51780	broad.mit.edu	37	5	137727502	137727502	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:137727502G>A	uc003lcy.1	+	8	2381	c.2181G>A	c.(2179-2181)TCG>TCA	p.S727S	KDM3B_uc010jew.1_Silent_p.S383S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	727	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GCTCCAGCTCGCCCACCAGCA	0.607		NaN											0	0	0	0.000442599	0	10	77				
PCDHGA3	56112	broad.mit.edu	37	5	140725479	140725479	+	Missense_Mutation	SNP	C	C	T	rs62378406		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:140725479C>T	uc003ljm.1	+	1	1879	c.1879C>T	c.(1879-1881)CGC>TGC	p.R627C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R387C|PCDHGA3_uc011dap.1_Missense_Mutation_p.R627C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.697		NaN											0	0	0	0.000229342	0	15	61				
COL23A1	91522	broad.mit.edu	37	5	177673290	177673290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:177673290C>T	uc003mje.2	-	24	1736	c.1378G>A	c.(1378-1380)GGC>AGC	p.G460S	COL23A1_uc010jkt.2_Missense_Mutation_p.G342S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	460	Extracellular (Potential).|Collagen-like 4.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCAATAAGGCCCGGTGGGCCA	0.557		NaN											0	0	0	0.00024832	0	3	6				
PECI	10455	broad.mit.edu	37	6	4117578	4117578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:4117578C>T	uc003mwf.2	-	9	1030	c.993G>A	c.(991-993)TGG>TGA	p.W331*	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Nonsense_Mutation_p.W164*|PECI_uc003mwd.2_Nonsense_Mutation_p.W301*|PECI_uc003mwe.2_Nonsense_Mutation_p.W178*|PECI_uc010jnr.1_RNA	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	331					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCAGCCTGGTCCAGACTTCTT	0.383		NaN											0	0	0	0.000191422	0	34	54				
HIST1H2BF	8343	broad.mit.edu	37	6	26200019	26200019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:26200019C>G	uc003ngx.2	+	1	233	c.233C>G	c.(232-234)GCT>GGT	p.A78G	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	78					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				GCTGGCGAGGCTTCCCGCCTG	0.622		NaN											0	0	0	0.00074312	0	17	142				
BRPF3	27154	broad.mit.edu	37	6	36168333	36168333	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:36168333G>A	uc003olv.3	+	2	458	c.234G>A	c.(232-234)AAG>AAA	p.K78K	BRPF3_uc010jwb.2_Silent_p.K78K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.K78K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	78					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						ATAGTAACAAGGAAAACAGTG	0.463		NaN											0	0	0	0.000673444	0	11	75				
C6orf142	90523	broad.mit.edu	37	6	54095691	54095691	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:54095691C>T	uc003pcg.3	+	11	1406	c.1293C>T	c.(1291-1293)CTC>CTT	p.L431L	C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.L966L	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	431						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTCACACCCTCCTCAGTCACA	0.463		NaN											0	0	0	6.40141e-05	0	12	60				
ZNF451	26036	broad.mit.edu	37	6	57013396	57013396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:57013396C>T	uc003pdm.1	+	10	2737	c.2513C>T	c.(2512-2514)TCA>TTA	p.S838L	ZNF451_uc003pdl.2_Missense_Mutation_p.S838L|ZNF451_uc003pdn.1_Missense_Mutation_p.S838L|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S838L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTAGTGCCTCACATACAGAG	0.373		NaN											0	0	0	0.000274275	0	8	13				
ASCC3	10973	broad.mit.edu	37	6	101049784	101049784	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:101049784T>G	uc003pqk.2	-	34	5534	c.5205A>C	c.(5203-5205)TTA>TTC	p.L1735F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1735	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTCTGCATTTAAGTGGTCAG	0.368		NaN											0	0	0	6.4e-05	0	3	53				
ROS1	6098	broad.mit.edu	37	6	117714423	117714423	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:117714423C>A	uc003pxp.1	-	11	1425	c.1226G>T	c.(1225-1227)AGT>ATT	p.S409I	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	409	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGAGGTGCACTAATAGAGGG	0.348		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								1	0	7.93312e-07	0.000219431	9.29308e-06	13	239				
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:144508445C>G	uc003qks.3	+	2	873	c.681C>G	c.(679-681)CTC>CTG	p.L227L		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	8.12818e-05	0	7	30				
FIGNL1	63979	broad.mit.edu	37	7	50513419	50513419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:50513419C>T	uc003tpc.2	-	4	1944	c.1567G>A	c.(1567-1569)GAA>AAA	p.E523K	FIGNL1_uc003tpb.2_Missense_Mutation_p.E412K|FIGNL1_uc003tpd.2_Missense_Mutation_p.E523K|FIGNL1_uc003tpe.2_Missense_Mutation_p.E523K|FIGNL1_uc010kyy.2_Missense_Mutation_p.E523K	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	523					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACTAAAAATTCTGTTTTTATC	0.413		NaN											0	0	0	0.000878237	0	29	111				
TBL2	26608	broad.mit.edu	37	7	72988323	72988323	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:72988323T>C	uc003tyh.2	-	3	525	c.391A>G	c.(391-393)AGA>GGA	p.R131G	TBL2_uc011kex.1_Missense_Mutation_p.R95G|TBL2_uc010lbg.2_Missense_Mutation_p.R36G|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_Missense_Mutation_p.R2G|TBL2_uc010lbh.2_Missense_Mutation_p.R36G	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	131											0		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACGTTGGCTCTCATGCTGCGG	0.602		NaN											0	0	0	0.000157383	0	8	104				
SLC25A40	55972	broad.mit.edu	37	7	87473129	87473129	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:87473129T>C	uc003uje.2	-	9	1032	c.681A>G	c.(679-681)AAA>AAG	p.K227K		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	227					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)	1	Esophageal squamous(14;0.00202)					ATAAACCAGATTTCTCACATA	0.294		NaN											0	0	0	0.000151284	0	12	20				
PON2	5445	broad.mit.edu	37	7	95041045	95041045	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:95041045A>G	uc003unv.2	-	5	535	c.414T>C	c.(412-414)AAT>AAC	p.N138N	PON2_uc003unu.2_Silent_p.N126N|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.N51N	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	138					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTCCACTGTATTCTTGAATT	0.348		NaN											0	0	0	3.59834e-05	0	6	32				
SMURF1	57154	broad.mit.edu	37	7	98639810	98639810	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:98639810G>A	uc003upu.1	-	13	1700	c.1380C>T	c.(1378-1380)TAC>TAT	p.Y460Y	SMURF1_uc003upv.1_Silent_p.Y434Y|SMURF1_uc003upt.2_Silent_p.Y434Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	460	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAAGAGCCCGTAATAAGGAT	0.388		NaN											0	0	0	0.000219431	0	11	120				
RELN	5649	broad.mit.edu	37	7	103214705	103214705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103214705C>T	uc003vca.2	-	30	4505	c.4345G>A	c.(4345-4347)GAG>AAG	p.E1449K	RELN_uc010liz.2_Missense_Mutation_p.E1449K	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1449					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAACATCTCATTGTGATTG	0.458		NaN											0	0	0	8.12818e-05	0	6	58				
RELN	5649	broad.mit.edu	37	7	103275933	103275933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103275933C>G	uc003vca.2	-	19	2564	c.2404G>C	c.(2404-2406)GAT>CAT	p.D802H	RELN_uc010liz.2_Missense_Mutation_p.D802H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	802	BNR 2.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCCCATTATCATAAGAATAA	0.438		NaN											0	0	0	0.00024832	0	4	69				
CPA1	1357	broad.mit.edu	37	7	130022031	130022031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:130022031G>A	uc003vpx.2	+	4	536	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	155					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TATGAAGGGCGTCCCATTTAC	0.552		NaN											0	0	0	0.000442599	0	9	100				
SLC37A3	84255	broad.mit.edu	37	7	140058547	140058547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:140058547G>C	uc003vvo.2	-	6	580	c.414C>G	c.(412-414)TTC>TTG	p.F138L	SLC37A3_uc003vvp.2_Missense_Mutation_p.F138L|SLC37A3_uc010lnh.2_Missense_Mutation_p.F138L|SLC37A3_uc011kqz.1_Intron|SLC37A3_uc011kra.1_Missense_Mutation_p.F138L|SLC37A3_uc011krb.1_Missense_Mutation_p.F110L	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	138					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					ATTTGTTGTAGAAACGCAGCC	0.507		NaN											0	0	0	0.000586117	0	23	228				
KRBA1	84626	broad.mit.edu	37	7	149422508	149422508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:149422508C>T	uc003wfz.2	+	10	1628	c.1229C>T	c.(1228-1230)TCC>TTC	p.S410F	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.S78F	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	410										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTCTTGTTCCCAGAACCCC	0.602		NaN											0	0	0	8.12818e-05	0	6	26				
XKR6	286046	broad.mit.edu	37	8	10755762	10755762	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:10755762C>T	uc003wtk.1	-	3	1653	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	542						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCTGGTGGGCGTAACCTGGG	0.637		NaN											0	0	0	0.000274275	0	8	38				
DLC1	10395	broad.mit.edu	37	8	12947882	12947882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:12947882G>A	uc003wwm.2	-	15	4397	c.3953C>T	c.(3952-3954)TCA>TTA	p.S1318L	DLC1_uc003wwk.1_Missense_Mutation_p.S881L|DLC1_uc003wwl.1_Missense_Mutation_p.S915L|DLC1_uc011kxx.1_Missense_Mutation_p.S807L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1318	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GTAGTCAGCTGAGTCATCATT	0.512		NaN											0	0	0	0.000673444	0	11	71				
RIMS2	9699	broad.mit.edu	37	8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:105160951C>T	uc003yls.2	+	23	3504	c.3263C>T	c.(3262-3264)TCT>TTT	p.S1088F	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1077F|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	516					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGCCAGTCTGACACTGCA	0.517		NaN								HNSCC(12;0.0054)			0	0	0	0.00024832	0	4	16				
SYBU	55638	broad.mit.edu	37	8	110592172	110592172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:110592172G>T	uc003ynj.3	-	5	753	c.590C>A	c.(589-591)TCA>TAA	p.S197*	SYBU_uc003yni.3_Nonsense_Mutation_p.S194*|SYBU_uc003ynk.3_Nonsense_Mutation_p.S78*|SYBU_uc010mco.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynl.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcp.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcq.2_Nonsense_Mutation_p.S197*|SYBU_uc003yno.3_Nonsense_Mutation_p.S78*|SYBU_uc010mcr.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynm.3_Nonsense_Mutation_p.S196*|SYBU_uc003ynn.3_Nonsense_Mutation_p.S196*|SYBU_uc010mcs.2_Nonsense_Mutation_p.S78*|SYBU_uc010mct.2_Nonsense_Mutation_p.S197*|SYBU_uc010mcu.2_Nonsense_Mutation_p.S196*|SYBU_uc003ynp.3_Nonsense_Mutation_p.S129*|SYBU_uc010mcv.2_Nonsense_Mutation_p.S197*|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Nonsense_Mutation_p.S67*	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	197	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCGCGGGGATGATGGGCTGCT	0.517		NaN											1	0	6.44725e-10	0.000295444	7.6475e-09	18	131				
ENPP2	5168	broad.mit.edu	37	8	120577110	120577110	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:120577110G>A	uc003yot.1	-	23	2303	c.2217C>T	c.(2215-2217)TTC>TTT	p.F739F	ENPP2_uc011lic.1_Silent_p.F277F|ENPP2_uc003yor.1_Silent_p.F374F|ENPP2_uc003yos.1_Silent_p.F791F|ENPP2_uc010mdd.1_Silent_p.F764F	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	739					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTCATAGTCGAAGATTGGTC	0.378		NaN											0	0	0	3.59834e-05	0	6	41				
ATAD2	29028	broad.mit.edu	37	8	124382178	124382178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:124382178C>G	uc003yqh.3	-	7	922	c.814G>C	c.(814-816)GAT>CAT	p.D272H	ATAD2_uc011lii.1_Missense_Mutation_p.D63H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D272H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	272	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcatcatcatcatcatcgtca	0.164		NaN											0	0	0	0.000602214	0	5	23				
CPSF1	29894	broad.mit.edu	37	8	145622615	145622615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:145622615G>C	uc003zcj.2	-	23	2474	c.2399C>G	c.(2398-2400)CCC>CGC	p.P800R		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	800					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGCCAGTCGGGAAGCTGGTA	0.647		NaN											0	0	0	6.4e-05	0	2	3				
TOR2A	27433	broad.mit.edu	37	9	130496823	130496823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:130496823G>A	uc004brs.3	-	2	227	c.172C>T	c.(172-174)CAG>TAG	p.Q58*	TOR2A_uc004brt.3_Nonsense_Mutation_p.Q58*|TOR2A_uc004brw.3_Nonsense_Mutation_p.Q58*|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	58					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						GCCAGGTGCTGAGCCAGGTCA	0.632		NaN									OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000308642	0	14	26				
ASS1	445	broad.mit.edu	37	9	133364826	133364826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:133364826G>C	uc004bzm.2	+	13	1301	c.945G>C	c.(943-945)TTG>TTC	p.L315F	ASS1_uc004bzn.2_Missense_Mutation_p.L315F|ASS1_uc010mza.2_Missense_Mutation_p.L391F|ASS1_uc004bzo.2_Missense_Mutation_p.L296F|ASS1_uc010mzb.2_Missense_Mutation_p.L353F|ASS1_uc004bzp.2_Missense_Mutation_p.L315F|ASS1_uc010mzc.2_Missense_Mutation_p.L315F	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	315					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCCTGGGCTTGAAATTTGCTG	0.542		NaN											0	0	0	0.000375601	0	21	221				
FRMPD4	9758	broad.mit.edu	37	X	12736510	12736510	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:12736510C>A	uc004cuz.1	+	16	4071	c.3565C>A	c.(3565-3567)CGC>AGC	p.R1189S	FRMPD4_uc011mij.1_Missense_Mutation_p.R1181S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1189					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GAGTGTGGCCCGCCTTTGTGA	0.552		NaN											1	0	6.36457e-07	0.000586117	7.50224e-06	24	131				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:37027156C>G	uc004ddl.1	+	1	687	c.673C>G	c.(673-675)CAG>GAG	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	225										ovary(3)	3						TCTCCGCCCACAGCCTCCCAA	0.647		NaN											0	0	0	0.000602214	0	5	79				
KDM6A	7403	broad.mit.edu	37	X	44949018	44949018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:44949018G>A	uc004dge.3	+	25	3954	c.3579G>A	c.(3577-3579)TGG>TGA	p.W1193*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1193	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGGGTTCTTGGTGGCCCAATC	0.353		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.000157383	0	6	16		Valid		
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:130411013G>T	uc004ewd.2	-	14	2746	c.2508C>A	c.(2506-2508)ATC>ATA	p.I836I	IGSF1_uc004ewe.3_Silent_p.I830I|IGSF1_uc004ewf.2_Silent_p.I816I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	836	Extracellular (Potential).|Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CCACCGAAATGATTAGAAAGT	0.498		NaN											1	0	8.28887e-21	0.000781405	1.0021e-19	52	446				
FAM58A	92002	broad.mit.edu	37	X	152858023	152858023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:152858023G>C	uc010nug.2	-	3	515	c.412C>G	c.(412-414)CTG>GTG	p.L138V				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	200					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGACCTGCAGGGCCAGGTAG	0.692		NaN											0	0	0	8.12818e-05	0	7	31				
EMD	2010	broad.mit.edu	37	X	153609241	153609241	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:153609241G>A	uc004fkl.2	+	6	698	c.450_splice	c.e6-1	p.R150_splice		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin						cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTGCCTCAGGGAACGCCCC	0.622		NaN											0	0	0	0.000219431	0	13	86				
FAM132A	388581	broad.mit.edu	37	1	1179861	1179861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:1179861C>T	uc001adl.1	-	2	226	c.194G>A	c.(193-195)GGA>GAA	p.G65E		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	65						extracellular region					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAACTCAGGTCCTGAGGCCTG	0.672		NaN											0	0	0	0.008871	0	16	81				
KIAA0495	57212	broad.mit.edu	37	1	3662532	3662532	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:3662532G>A	uc009vlm.2	-	1	1355	c.236C>T	c.(235-237)TCT>TTT	p.S79F	KIAA0495_uc001akt.3_RNA	NM_207306	NP_997189			hypothetical protein LOC57212 precursor												0	all_cancers(77;0.0338)|Ovarian(185;0.0634)|Lung NSC(156;0.172)|all_lung(157;0.182)	all_epithelial(116;1.83e-21)|all_lung(118;2e-08)|Lung NSC(185;7.5e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;1.27e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.204)		GGTGGAGGCAGATGGTGTTGC	0.592		NaN											0	0	0	0.00361	0	40	190				
DFFA	1676	broad.mit.edu	37	1	10523212	10523212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:10523212C>G	uc001arj.2	-	5	784	c.686G>C	c.(685-687)AGA>ACA	p.R229T	DFFA_uc001ark.2_Missense_Mutation_p.R229T	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	229					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGGTCTCTCTGCTGATACC	0.557		NaN											0	0	0	0.008291	0	9	66				
MFN2	9927	broad.mit.edu	37	1	12061571	12061571	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12061571C>G	uc001atn.3	+	9	1383	c.930C>G	c.(928-930)CTC>CTG	p.L310L	MFN2_uc009vni.2_Silent_p.L310L	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	310	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGAGGTGCTCAACGCCAGGA	0.532		NaN									OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	7	30				
TNFRSF8	943	broad.mit.edu	37	1	12175755	12175755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12175755C>G	uc001atq.2	+	8	1137	c.915C>G	c.(913-915)ATC>ATG	p.I305M	TNFRSF8_uc010obc.1_Missense_Mutation_p.I194M	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	305	Extracellular (Potential).|TNFR-Cys 6.				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACCCAATCTGTGCAGCAG	0.627		NaN											0	0	0	0.004482	0	9	65				
VPS13D	55187	broad.mit.edu	37	1	12322040	12322040	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12322040G>A	uc001atv.2	+	13	1638	c.1497G>A	c.(1495-1497)CTG>CTA	p.L499L	VPS13D_uc001atw.2_Silent_p.L499L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	499					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGCCAAACTGAATTTGCAGT	0.448		NaN											0	0	0	0.006122	0	14	87				
VPS13D	55187	broad.mit.edu	37	1	12339681	12339681	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12339681G>A	uc001atv.2	+	20	4717	c.4576G>A	c.(4576-4578)GAA>AAA	p.E1526K	VPS13D_uc001atw.2_Missense_Mutation_p.E1526K|VPS13D_uc001atx.2_Missense_Mutation_p.E714K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1526					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGAAGATTGAAGGAAAATT	0.333		NaN											0	0	0	0.008291	0	8	45				
KAZ	23254	broad.mit.edu	37	1	14925613	14925613	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:14925613G>C	uc001avm.3	+	1	401	c.120G>C	c.(118-120)CTG>CTC	p.L40L	KAZ_uc009vog.1_Silent_p.L40L|KAZ_uc010obj.1_Silent_p.L40L	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	40					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						TGGCGGAACTGAgcggcggcg	0.468		NaN											0	0	0	0.001168	0	6	43				
RSC1A1	6248	broad.mit.edu	37	1	15986462	15986462	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986462C>G	uc010obn.1	+	1	99	c.99C>G	c.(97-99)GTC>GTG	p.V33V	DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	33					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTCTGTCTCTGCTTCAG	0.478		NaN											0	0	0	0.009718	0	33	183				
RSC1A1	6248	broad.mit.edu	37	1	15986581	15986581	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986581C>A	uc010obn.1	+	1	218	c.218C>A	c.(217-219)TCT>TAT	p.S73Y	DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	73					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACATCTTTCTTTACAAGAT	0.428		NaN											1	0	9.31168e-06	0.001855	9.66208e-06	11	52				
RSC1A1	6248	broad.mit.edu	37	1	15987253	15987253	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987253C>A	uc010obn.1	+	1	890	c.890C>A	c.(889-891)TCA>TAA	p.S297*		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	297					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAACCCTTCATCTGAAATT	0.383		NaN											1	0	0.000157383	0.00308	0.000161752	6	44				
RSC1A1	6248	broad.mit.edu	37	1	15987441	15987441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987441C>T	uc010obn.1	+	1	1078	c.1078C>T	c.(1078-1080)CAT>TAT	p.H360Y		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	360					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGAACTTCATGAACTTTT	0.438		NaN											0	0	0	0.008291	0	7	25				
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:16053943C>T	uc010obo.1	+	9	1603	c.1376C>T	c.(1375-1377)TCA>TTA	p.S459L		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	459					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632		NaN											0	0	0	0.001168	0	4	6				
HTR6	3362	broad.mit.edu	37	1	20005075	20005075	+	Missense_Mutation	SNP	C	C	A	rs61751019		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20005075C>A	uc001bcl.2	+	2	1197	c.730C>A	c.(730-732)CGC>AGC	p.R244S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	244	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CAGGACCCCACGCCCAGGGGT	0.532		NaN											1	0	6.21321e-17	0.00278	6.68243e-17	17	126				
CDA	978	broad.mit.edu	37	1	20944968	20944968	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20944968C>T	uc001bdk.2	+	4	527	c.348C>T	c.(346-348)TAC>TAT	p.Y116Y	CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	NM_001785	NP_001776	P32320	CDD_HUMAN	cytidine deaminase	116					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCCGTGTACATGACCAAGC	0.373		NaN											0	0	0	0.004482	0	5	37				
USP48	84196	broad.mit.edu	37	1	22074665	22074665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:22074665G>C	uc001bfb.2	-	7	1112	c.874C>G	c.(874-876)CTG>GTG	p.L292V	USP48_uc010odq.1_Missense_Mutation_p.L292V|USP48_uc009vqc.2_Missense_Mutation_p.L292V|USP48_uc001bfc.2_Missense_Mutation_p.L292V|USP48_uc001bfe.1_Missense_Mutation_p.L292V|USP48_uc001bff.2_Missense_Mutation_p.L292V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	292					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCAAGTTCAGAGTGCAAGGA	0.378		NaN											0	0	0	0.001368	0	9	60				
TCEB3	6924	broad.mit.edu	37	1	24077712	24077712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24077712C>T	uc001bho.2	+	4	755	c.695C>T	c.(694-696)TCA>TTA	p.S232L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	232					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCATTGTTTCACACCAGAAG	0.552		NaN									OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	9	93				
TCEB3	6924	broad.mit.edu	37	1	24078045	24078045	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24078045C>G	uc001bho.2	+	4	1088	c.1028C>G	c.(1027-1029)TCA>TGA	p.S343*		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	343					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTGCCTCCCTCAGAGGCCGCT	0.522		NaN									OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	40				
GPN2	54707	broad.mit.edu	37	1	27216180	27216180	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27216180G>A	uc001bnd.1	-	1	690	c.408C>T	c.(406-408)CTC>CTT	p.L136L		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	136							GTP binding				0						GACGCACCCTGAGGTCCCACT	0.413		NaN											0	0	0	0.005443	0	23	164				
FGR	2268	broad.mit.edu	37	1	27950379	27950379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27950379C>A	uc001boj.2	-	1	195	c.49G>T	c.(49-51)GAG>TAG	p.E17*	FGR_uc001bok.2_Nonsense_Mutation_p.E17*|FGR_uc001bol.2_Nonsense_Mutation_p.E17*|FGR_uc001bom.2_Nonsense_Mutation_p.E17*	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	17					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCATCCTCCTTGGCCGTG	0.602		NaN											1	0	0.000308642	0.003163	0.000316957	13	72				
XKR8	55113	broad.mit.edu	37	1	28290051	28290051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28290051G>C	uc001bph.1	+	2	414	c.337G>C	c.(337-339)GAG>CAG	p.E113Q		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related	113						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GTGGCAGCAGGAGGAGCCCTC	0.612		NaN											0	0	0	0.00499	0	15	103				
EYA3	2140	broad.mit.edu	37	1	28365386	28365386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28365386G>T	uc001bpi.1	-	5	353	c.188C>A	c.(187-189)TCA>TAA	p.S63*	EYA3_uc010ofs.1_Nonsense_Mutation_p.S10*|EYA3_uc010oft.1_Nonsense_Mutation_p.S63*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S63*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	63					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ATCATTGGATGAGCGAGGGAT	0.318		NaN											1	0	9.31168e-06	0.001855	9.66208e-06	8	76				
GMEB1	10691	broad.mit.edu	37	1	29030720	29030720	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:29030720C>T	uc001bra.2	+	8	915	c.777C>T	c.(775-777)TTC>TTT	p.F259F	GMEB1_uc001bqz.2_Silent_p.F249F|GMEB1_uc001brb.2_Silent_p.F249F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGATGTTCTGGAAAGGAA	0.433		NaN											0	0	0	0.001168	0	6	109				
KHDRBS1	10657	broad.mit.edu	37	1	32502561	32502561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:32502561G>C	uc001bub.2	+	5	928	c.822G>C	c.(820-822)TTG>TTC	p.L274F	KHDRBS1_uc001bua.1_Missense_Mutation_p.L235F|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	274					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTCCTACTTGAATGGAGTAC	0.493		NaN											0	0	0	0.00333	0	22	150				
TRIM62	55223	broad.mit.edu	37	1	33613176	33613176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:33613176C>A	uc001bxb.2	-	5	1668	c.1030G>T	c.(1030-1032)GAA>TAA	p.E344*		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	344	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CTGAAGGCTTCAGAACCCAGC	0.622		NaN											1	0	0.00829132	0.008291	0.00844776	7	81				
KIAA0319L	79932	broad.mit.edu	37	1	35916018	35916018	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:35916018C>T	uc001byx.2	-	14	2413	c.2155G>A	c.(2155-2157)GAT>AAT	p.D719N	KIAA0319L_uc001byw.2_Missense_Mutation_p.D161N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D361N	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	719	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTTGTCATCTGAGGACTTA	0.512		NaN											0	0	0	0.001855	0	13	116				
COL8A2	1296	broad.mit.edu	37	1	36564281	36564281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564281C>G	uc001bzv.1	-	2	1008	c.1001G>C	c.(1000-1002)GGA>GCA	p.G334A	COL8A2_uc001bzw.1_Missense_Mutation_p.G269A	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	334	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCAAGAGTCCTGGGACCCC	0.721		NaN											0	0	0	0.001168	0	4	40				
COL8A2	1296	broad.mit.edu	37	1	36564306	36564306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564306C>G	uc001bzv.1	-	2	983	c.976G>C	c.(976-978)GAC>CAC	p.D326H	COL8A2_uc001bzw.1_Missense_Mutation_p.D261H	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	326	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCCCCTGTCCCCCTTGGGG	0.726		NaN											0	0	0	0.000602	0	3	32				
CSF3R	1441	broad.mit.edu	37	1	36939118	36939118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36939118C>G	uc001caw.1	-	6	769	c.591G>C	c.(589-591)CAG>CAC	p.Q197H	CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q197H|CSF3R_uc001cax.1_Missense_Mutation_p.Q197H|CSF3R_uc001cay.1_Missense_Mutation_p.Q197H	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	197	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCCATATTCTGGTACAACA	0.597		NaN											0	0	0	0.008361	0	30	164				
GRIK3	2899	broad.mit.edu	37	1	37271815	37271815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:37271815G>A	uc001caz.2	-	14	2339	c.2204C>T	c.(2203-2205)GCG>GTG	p.A735V	GRIK3_uc001cba.1_Missense_Mutation_p.A735V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	735	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATGAGCAGCGCGTAGTCGGC	0.612		NaN											0	0	0	0.008871	0	16	170				
GNL2	29889	broad.mit.edu	37	1	38041280	38041280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38041280C>T	uc001cbk.2	-	10	1222	c.1059G>A	c.(1057-1059)TTG>TTA	p.L353L		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	353	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TCCGACGCATCAAAGTAATAT	0.438		NaN											0	0	0	0.001855	0	10	67				
SF3A3	10946	broad.mit.edu	37	1	38446330	38446330	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38446330C>G	uc001cci.2	-	8	742	c.618G>C	c.(616-618)CAG>CAC	p.Q206H	SF3A3_uc010oik.1_Missense_Mutation_p.Q153H	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	206					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTTCATTCTGATCTTGGA	0.458		NaN											0	0	0	0.006214	0	7	77				
POU3F1	5453	broad.mit.edu	37	1	38511339	38511339	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38511339G>C	uc001ccp.1	-	1	1112	c.1077C>G	c.(1075-1077)CTC>CTG	p.L359L		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	359	Homeobox.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGGCACTTGAGAAAGTGGC	0.662		NaN											0	0	0	0.008291	0	8	37				
KIAA0754	643314	broad.mit.edu	37	1	39876717	39876717	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:39876717G>A	uc009vvt.1	+	1	1542	c.780G>A	c.(778-780)CCG>CCA	p.P260P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	124											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCTGGCCGAGGGCCACAA	0.522		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	17				
ZNF642	339559	broad.mit.edu	37	1	40945004	40945004	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:40945004G>C	uc001cfo.2	+	2	266	c.-28_splice	c.e2-1		ZNF642_uc009vwb.2_5'UTR|ZNF642_uc010ojk.1_Splice_Site	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TTCCTCACCAGAAGTGGACAA	0.547		NaN											0	0	0	0.009718	0	32	162				
ZNF684	127396	broad.mit.edu	37	1	41012608	41012608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:41012608C>T	uc001cft.1	+	5	864	c.613C>T	c.(613-615)CAT>TAT	p.H205Y		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTTGCAACTCATCAGAAAAT	0.408		NaN											0	0	0	0.004482	0	8	65				
WDR65	149465	broad.mit.edu	37	1	43675708	43675708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:43675708C>T	uc001cip.1	+	11	2171	c.2050C>T	c.(2050-2052)CAT>TAT	p.H684Y	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Intron|WDR65_uc001ciq.1_Missense_Mutation_p.H684Y	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	Error:Variant_position_missing_in_Q96MR6_after_alignment										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTCATCCATCATTCATTGAA	0.279		NaN											0	0	0	0.001168	0	5	52				
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:44474107G>A	uc001cll.2	-	5	919	c.727C>T	c.(727-729)CGG>TGG	p.R243W	SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	243	Extracellular (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642		NaN											0	0	0	0.004656	0	20	147				
PTCH2	8643	broad.mit.edu	37	1	45293690	45293690	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:45293690G>A	uc010olf.1	-	14	1895	c.1883C>T	c.(1882-1884)TCT>TTT	p.S628F	PTCH2_uc010olg.1_Missense_Mutation_p.S326F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	628	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAGTGGGTCAGAAGGTGGGGG	0.622		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.002299	0	20	105				
DMBX1	127343	broad.mit.edu	37	1	46972824	46972824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:46972824G>A	uc001cpx.2	+	1	157	c.142G>A	c.(142-144)GAG>AAG	p.E48K	DMBX1_uc001cpw.2_Missense_Mutation_p.E48K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	48	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TACATTGGCTGAGCGCCTGGC	0.637		NaN											0	0	0	0.008291	0	10	40				
SPATA6	54558	broad.mit.edu	37	1	48918750	48918750	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:48918750G>A	uc001crr.1	-	2	270	c.105C>T	c.(103-105)ATC>ATT	p.I35I	SPATA6_uc001crs.1_Silent_p.I35I|SPATA6_uc010omv.1_Silent_p.I35I|SPATA6_uc001crt.2_5'UTR	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	35					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CAAACACACAGATGCTAAGAT	0.393		NaN											0	0	0	0.010729	0	8	64				
ZFYVE9	9372	broad.mit.edu	37	1	52704969	52704969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:52704969C>T	uc001cto.2	+	4	2052	c.1880C>T	c.(1879-1881)TCA>TTA	p.S627L	ZFYVE9_uc001ctn.2_Missense_Mutation_p.S627L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S627L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	627					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GGGGAAAACTCAGCAACCAAT	0.358		NaN											0	0	0	0.00245	0	12	74				
C1orf175	374977	broad.mit.edu	37	1	55119580	55119580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55119580G>A	uc010ooe.1	+	3	1305	c.981G>A	c.(979-981)ATG>ATA	p.M327I	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.M327I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.M327I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	327	Ser-rich.					integral to membrane	binding				0						CCTCATGCATGACTCTAATCC	0.562		NaN											0	0	0	0.010504	0	10	167				
C1orf175	374977	broad.mit.edu	37	1	55139782	55139782	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55139782G>A	uc010ooe.1	+	10	2218	c.1894G>A	c.(1894-1896)GAC>AAC	p.D632N	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.D200N|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.D150N|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D632N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	632						integral to membrane	binding				0						TGAGGCTCTGGACGGCATCAT	0.527		NaN											0	0	0	0.012319	0	19	148				
TMEM61	199964	broad.mit.edu	37	1	55457567	55457567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55457567G>A	uc001cyd.2	+	3	698	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	142						integral to membrane					0						CCCAGTGGCCGAGGGGCCCCC	0.647		NaN											0	0	0	0.010504	0	18	139				
DOCK7	85440	broad.mit.edu	37	1	63005436	63005436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:63005436G>A	uc001daq.2	-	26	3207	c.3173C>T	c.(3172-3174)TCA>TTA	p.S1058L	DOCK7_uc001dan.2_Missense_Mutation_p.S919L|DOCK7_uc001dao.2_Missense_Mutation_p.S919L|DOCK7_uc001dap.2_Missense_Mutation_p.S1027L|DOCK7_uc001dam.2_Missense_Mutation_p.S238L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1058					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						CTGAAATCGTGAAACTATATC	0.343		NaN											0	0	0	0.004672	0	3	23				
JAK1	3716	broad.mit.edu	37	1	65303766	65303766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:65303766G>A	uc001dbu.1	-	22	3238	c.2989C>T	c.(2989-2991)CGG>TGG	p.R997W	JAK1_uc009wam.1_Missense_Mutation_p.R985W|JAK1_uc009wal.1_Missense_Mutation_p.R174W	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	997	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACGTATTGCCGAGAACCCAAA	0.398		NaN	Mis		ALL								0	0	0	0.001984	0	6	45				
WLS	79971	broad.mit.edu	37	1	68564388	68564388	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:68564388G>A	uc001dee.2	-	12	1830	c.1559C>T	c.(1558-1560)TCG>TTG	p.S520L	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						ataaagttccgaaacaaacaa	0		NaN											0	0	0	0.000602	0	3	44				
FUBP1	8880	broad.mit.edu	37	1	78444569	78444569	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:78444569C>T	uc001dii.2	-	1	209	c.120G>A	c.(118-120)CAG>CAA	p.Q40Q	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.Q40Q|DNAJB4_uc010orn.1_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	40					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						CCACACTTACCTGCCGGGCTC	0.498		NaN											0	0	0	0.00361	0	47	397				
MCOLN3	55283	broad.mit.edu	37	1	85498382	85498382	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:85498382C>T	uc001dkp.2	-	6	822	c.729G>A	c.(727-729)CTG>CTA	p.L243L	MCOLN3_uc001dkq.2_Silent_p.L187L|MCOLN3_uc001dkr.2_Silent_p.L243L|MCOLN3_uc001dks.3_Silent_p.L88L	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	243						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		CACTTACAGTCAGAGTAAAGT	0.388		NaN											0	0	0	0.00361	0	33	252				
ABCA4	24	broad.mit.edu	37	1	94568588	94568588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:94568588G>C	uc001dqh.2	-	5	657	c.553C>G	c.(553-555)CAA>GAA	p.Q185E	ABCA4_uc010otn.1_Missense_Mutation_p.Q185E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	185	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGACGGACTTGAGAGTTGATC	0.473		NaN											0	0	0	0.003271	0	29	200				
PTBP2	58155	broad.mit.edu	37	1	97278438	97278438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278438C>G	uc001drq.2	+	12	1588	c.1342C>G	c.(1342-1344)CAA>GAA	p.Q448E	PTBP2_uc001drn.2_Missense_Mutation_p.Q453E|PTBP2_uc001dro.2_Missense_Mutation_p.Q448E|PTBP2_uc010otz.1_Missense_Mutation_p.Q464E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q396E|PTBP2_uc001drr.2_Missense_Mutation_p.Q453E|PTBP2_uc010oua.1_Missense_Mutation_p.Q456E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q67E|PTBP2_uc001drt.2_Missense_Mutation_p.Q67E	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	448							nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CAAAAATTTTCAAAACATTTT	0.358		NaN											0	0	0	0.009096	0	3	34				
PTBP2	58155	broad.mit.edu	37	1	97278881	97278881	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278881C>G	uc001drq.2	+	14	1762	c.1516C>G	c.(1516-1518)CAG>GAG	p.Q506E	PTBP2_uc001drn.2_Missense_Mutation_p.Q512E|PTBP2_uc001dro.2_Missense_Mutation_p.Q507E|PTBP2_uc010otz.1_Missense_Mutation_p.Q523E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q455E|PTBP2_uc001drr.2_Missense_Mutation_p.Q511E|PTBP2_uc010oua.1_Missense_Mutation_p.Q515E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q126E|PTBP2_uc001drt.2_Missense_Mutation_p.Q125E	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	506	RRM 4.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGAAGCTATTCAGGCCTTGAT	0.348		NaN											0	0	0	0.004482	0	7	47				
DPYD	1806	broad.mit.edu	37	1	97839142	97839142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97839142C>T	uc001drv.2	-	16	2170	c.2033G>A	c.(2032-2034)AGA>AAA	p.R678K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	678	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCCATTCCTCTTTCTCCCAT	0.453		NaN											0	0	0	0.004482	0	5	58				
CCDC76	54482	broad.mit.edu	37	1	100613836	100613836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:100613836G>A	uc001dsv.2	+	10	1223	c.1204G>A	c.(1204-1206)GAT>AAT	p.D402N	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	402					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AGAGCATGATGATGGAGGATA	0.388		NaN											0	0	0	0.004656	0	19	140				
GPR88	54112	broad.mit.edu	37	1	101004982	101004982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101004982C>T	uc001dth.2	+	2	864	c.460C>T	c.(460-462)CAG>TAG	p.Q154*		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	154	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GGCGCTGTACCAGAGGCGCCA	0.756		NaN											0	0	0	0.004672	0	3	21				
VCAM1	7412	broad.mit.edu	37	1	101194797	101194797	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101194797C>G	uc001dti.2	+	5	1183	c.1063C>G	c.(1063-1065)CTG>GTG	p.L355V	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L293V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	355	Ig-like C2-type 4.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGACAGCCCTCTGAGCGGGAA	0.527		NaN											0	0	0	0.004482	0	7	49				
SLC30A7	148867	broad.mit.edu	37	1	101361836	101361836	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101361836C>G	uc001dtn.2	+	1	205	c.18C>G	c.(16-18)ATC>ATG	p.I6M	EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.I6M	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	6	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCCTGTCCATCAAAGACGATG	0.587		NaN											0	0	0	0.003163	0	12	95				
S1PR1	1901	broad.mit.edu	37	1	101705413	101705413	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101705413C>T	uc001dud.2	+	2	1387	c.873C>T	c.(871-873)TTC>TTT	p.F291F	S1PR1_uc009weg.2_Silent_p.F291F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	291	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						ACATCCTCTTCAGAGCGGAGT	0.552		NaN											0	0	0	0.00361	0	54	468				
AHCYL1	10768	broad.mit.edu	37	1	110555027	110555027	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110555027G>A	uc001dyx.2	+	4	787	c.420G>A	c.(418-420)GAG>GAA	p.E140E	AHCYL1_uc010ovw.1_Silent_p.E93E|AHCYL1_uc001dyy.2_Silent_p.E93E|AHCYL1_uc010ovx.1_Silent_p.E93E	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	140					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTCAGGGGGAGAAGCCCTTGG	0.493		NaN											0	0	0	0.001368	0	9	76				
SLC6A17	388662	broad.mit.edu	37	1	110716657	110716657	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110716657C>G	uc009wfq.2	+	4	968	c.507C>G	c.(505-507)TTC>TTG	p.F169L		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	169	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCTATTTCTTCAAGTCCTTCC	0.577		NaN											0	0	0	0.007291	0	27	165				
WNT2B	7482	broad.mit.edu	37	1	113058964	113058964	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113058964C>T	uc001ecb.2	+	3	1121	c.606C>T	c.(604-606)TTC>TTT	p.F202F	WNT2B_uc001eca.2_Silent_p.F183F|WNT2B_uc009wgg.2_Silent_p.F110F	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	202					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGGCCTTCGTGGATGCCA	0.557		NaN											0	0	0	0.00245	0	13	108				
SLC16A1	6566	broad.mit.edu	37	1	113464733	113464733	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113464733C>T	uc001ecx.2	-	3	1072	c.240G>A	c.(238-240)GTG>GTA	p.V80V	SLC16A1_uc001ecy.2_Silent_p.V80V|SLC16A1_uc001ecz.2_Silent_p.V80V|AFARP1_uc001eda.1_5'Flank	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	80	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATATTTATTCACCAGGATAC	0.403		NaN											0	0	0	0.000602	0	5	49				
MAGI3	260425	broad.mit.edu	37	1	114133225	114133225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114133225C>G	uc001edk.2	+	5	1064	c.883C>G	c.(883-885)CTG>GTG	p.L295V	MAGI3_uc001edh.3_Missense_Mutation_p.L295V|MAGI3_uc001edi.3_Missense_Mutation_p.L295V|MAGI3_uc010owm.1_Missense_Mutation_p.L295V|MAGI3_uc001edj.2_Missense_Mutation_p.L16V	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	295	WW 1.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGGAACCACTGCCCAAAAA	0.408		NaN											0	0	0	0.009096	0	4	40				
HIPK1	204851	broad.mit.edu	37	1	114515811	114515811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114515811C>T	uc001eem.2	+	16	3471	c.3310C>T	c.(3310-3312)CAC>TAC	p.H1104Y	HIPK1_uc001een.2_Missense_Mutation_p.H1104Y|HIPK1_uc001eeo.2_Missense_Mutation_p.H730Y|HIPK1_uc001eep.2_Missense_Mutation_p.H710Y|HIPK1_uc001eeq.2_Missense_Mutation_p.H396Y	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCCTGCTCACCTGCCAAG	0.627		NaN											0	0	0	0.00361	0	43	367				
SIKE1	80143	broad.mit.edu	37	1	115319033	115319033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319033C>T	uc001efo.3	-	4	536	c.456G>A	c.(454-456)ATG>ATA	p.M152I	SIKE1_uc001efp.3_Missense_Mutation_p.M156I	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 2	152						cytosol	protein binding				0						CTGCTTTCCTCATCACTTCTC	0.363		NaN											0	0	0	0.006214	0	8	156				
SIKE1	80143	broad.mit.edu	37	1	115319072	115319072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319072C>G	uc001efo.3	-	4	497	c.417G>C	c.(415-417)GAG>GAC	p.E139D	SIKE1_uc001efp.3_Missense_Mutation_p.E143D	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 2	139						cytosol	protein binding				0						CAATCTGACTCTCAATTTCCT	0.358		NaN											0	0	0	0.00308	0	6	101				
ADAM30	11085	broad.mit.edu	37	1	120438390	120438390	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:120438390C>T	uc001eij.2	-	1	724	c.570G>A	c.(568-570)GCG>GCA	p.A190A		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCCTTAGCCTCGCCTTATTCT	0.408		NaN											0	0	0	0.001168	0	5	74				
NBPF10	100132406	broad.mit.edu	37	1	145311808	145311808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145311808G>A	uc001end.3	+	14	1911	c.1876G>A	c.(1876-1878)GAG>AAG	p.E626K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'UTR|NBPF10_uc010oyl.1_5'UTR|NBPF10_uc010oyj.1_5'UTR	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGCTGGATGAGAAAGGGCC	0.483		NaN											0	0	0	0.000602	0	4	33				
PEX11B	8799	broad.mit.edu	37	1	145522591	145522591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145522591C>T	uc001eny.1	+	4	470	c.452C>T	c.(451-453)TCT>TTT	p.S151F	NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.S137F|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	151					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGAGTCTTCTGCTTGTAGC	0.527		NaN											0	0	0	0.00245	0	13	88				
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145682086T>C	uc001eoj.2	+	5	696	c.492T>C	c.(490-492)CCT>CCC	p.P164P	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.P131P|RNF115_uc009wiy.2_Silent_p.P83P	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	164					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						CTCCACACCCTTTTTCCTGGT	0.358		NaN											0	0	0	0.000602	0	3	130				
RNF115	27246	broad.mit.edu	37	1	145687020	145687020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687020G>A	uc001eoj.2	+	8	916	c.712G>A	c.(712-714)GAA>AAA	p.E238K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E205K|RNF115_uc009wiy.2_Missense_Mutation_p.E157K	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	238	RING-type.				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						TTACACAGTTGAAGAGGAAGT	0.413		NaN											0	0	0	0.00499	0	13	130				
RNF115	27246	broad.mit.edu	37	1	145687023	145687023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687023G>A	uc001eoj.2	+	8	919	c.715G>A	c.(715-717)GAG>AAG	p.E239K	NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E206K|RNF115_uc009wiy.2_Missense_Mutation_p.E158K	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Rabring 7	239	RING-type.				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						CACAGTTGAAGAGGAAGTCCG	0.428		NaN											0	0	0	0.004007	0	12	133				
GPR89B	51463	broad.mit.edu	37	1	147400652	147400652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:147400652G>C	uc001epv.3	+	1	147	c.3G>C	c.(1-3)ATG>ATC	p.M1I	GPR89B_uc010ozs.1_Missense_Mutation_p.M1I|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	1					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(923;0.0276)					ACTTCGCCATGAGTTTCCTGA	0.647		NaN											0	0	0	0.001368	0	11	121				
NBPF14	25832	broad.mit.edu	37	1	148009410	148009410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:148009410G>A	uc001eqq.2	-	16	1914	c.1897C>T	c.(1897-1899)CAG>TAG	p.Q633*	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Nonsense_Mutation_p.Q206*|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	633	NBPF 7.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					CTGTAGGGCTGGCATGAGTCA	0.478		NaN											0	0	0	0.001368	0	8	393				
HIST2H2AC	8338	broad.mit.edu	37	1	149858710	149858710	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149858710G>T	uc001etd.2	+	1	186	c.186G>T	c.(184-186)GAG>GAT	p.E62D	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672		NaN											1	0	1.15088e-07	0.004007	1.20577e-07	13	107				
OTUD7B	56957	broad.mit.edu	37	1	149921589	149921589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921589G>C	uc001etn.2	-	9	1422	c.1066C>G	c.(1066-1068)CAG>GAG	p.Q356E		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	356	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTGGGCCTGATCATAGGCG	0.512		NaN											0	0	0	0.004482	0	7	91				
OTUD7B	56957	broad.mit.edu	37	1	149921612	149921612	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921612G>T	uc001etn.2	-	9	1399	c.1043C>A	c.(1042-1044)TCC>TAC	p.S348Y		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	348	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACCAGAGGGGAGCGGTGACA	0.512		NaN											1	0	4.096e-09	0.001168	4.32634e-09	6	71				
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A	rs149230481		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:150483939G>A	uc001eus.2	+	7	914	c.715G>A	c.(715-717)GAA>AAA	p.E239K	ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	239	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597		NaN											0	0	0	0.005443	0	23	219				
BNIPL	149428	broad.mit.edu	37	1	151018574	151018574	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:151018574G>A	uc001ewl.2	+	9	1143	c.970G>A	c.(970-972)GAC>AAC	p.D324N	BNIPL_uc009wmi.2_Missense_Mutation_p.D242N|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	324	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTTTTCTGGACAGCCTGGG	0.443		NaN											0	0	0	0.010729	0	8	61				
S100A11	6282	broad.mit.edu	37	1	152006245	152006245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152006245C>T	uc001ezn.2	-	2	155	c.35G>A	c.(34-36)CGG>CAG	p.R12Q	uc001ezm.1_Intron	NM_005620	NP_005611	P31949	S10AB_HUMAN	S100 calcium binding protein A11	12					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding				0	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGATGCACCGCTCAGTCTC	0.458		NaN											0	0	0	0.004482	0	8	90				
HRNR	388697	broad.mit.edu	37	1	152193080	152193080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152193080G>C	uc001ezt.1	-	3	1101	c.1025C>G	c.(1024-1026)TCA>TGA	p.S342*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	342	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGCCTGAGCCAGACTC	0.582		NaN											0	0	0	0.00308	0	5	97				
FLG	2312	broad.mit.edu	37	1	152279068	152279068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152279068G>C	uc001ezu.1	-	3	8330	c.8294C>G	c.(8293-8295)TCC>TGC	p.S2765C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2765	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCATGGCGGGATCCTTGTCT	0.577		NaN							Ichthyosis				0	0	0	0.011902	0	24	512				
FLG	2312	broad.mit.edu	37	1	152279987	152279987	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152279987G>C	uc001ezu.1	-	3	7411	c.7375C>G	c.(7375-7377)CAG>GAG	p.Q2459E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2459	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.587		NaN							Ichthyosis				0	0	0	0.00361	0	82	685				
FLG2	388698	broad.mit.edu	37	1	152324509	152324509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152324509C>T	uc001ezw.3	-	3	5826	c.5753G>A	c.(5752-5754)AGA>AAA	p.R1918K	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1918							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTTGGTGTCTCTTGTGAAC	0.507		NaN											0	0	0	0.006122	0	17	199				
FLG2	388698	broad.mit.edu	37	1	152325449	152325449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152325449G>C	uc001ezw.3	-	3	4886	c.4813C>G	c.(4813-4815)CAA>GAA	p.Q1605E	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1605							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTGAGATCCGGCT	0.512		NaN											0	0	0	0.00623	0	34	251				
SPRR4	163778	broad.mit.edu	37	1	152944474	152944474	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944474G>A	uc001fav.1	+	2	171	c.108G>A	c.(106-108)GAG>GAA	p.E36E		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	36	Gln-rich.				keratinization|peptide cross-linking	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGTCAAGAGACATGTGCAC	0.498		NaN											0	0	0	0.012319	0	18	129				
SPRR4	163778	broad.mit.edu	37	1	152944534	152944534	+	Silent	SNP	G	G	A	rs147360157		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944534G>A	uc001fav.1	+	2	231	c.168G>A	c.(166-168)CCG>CCA	p.P56P		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	56	Gln-rich.				keratinization|peptide cross-linking	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCCCACCGAAAGGCACCA	0.522		NaN											0	0	0	0.00499	0	15	151				
KCNN3	3782	broad.mit.edu	37	1	154842073	154842073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154842073G>A	uc001ffp.2	-	1	682	c.368C>T	c.(367-369)TCC>TTC	p.S123F	KCNN3_uc009wox.1_Missense_Mutation_p.S123F	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	128						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGCCTGGAGGAAGGGTGGAG	0.642		NaN											0	0	0	0.010729	0	9	99				
ZBTB7B	51043	broad.mit.edu	37	1	154987446	154987446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154987446G>C	uc001fgk.3	+	3	468	c.310G>C	c.(310-312)GAA>CAA	p.E104Q	ZBTB7B_uc009wpa.2_Missense_Mutation_p.E104Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E138Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.E138Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E104Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	104	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCCCTCCTTGAATTTGCCTA	0.647		NaN											0	0	0	0.009096	0	4	53				
ZBTB7B	51043	broad.mit.edu	37	1	154988052	154988052	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154988052G>C	uc001fgk.3	+	3	1074	c.916G>C	c.(916-918)GAT>CAT	p.D306H	ZBTB7B_uc009wpa.2_Missense_Mutation_p.D306H|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D340H|ZBTB7B_uc010peq.1_Missense_Mutation_p.D340H|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D306H	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	306					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGGGCTCAGATGAGGATGC	0.622		NaN											0	0	0	0.004482	0	7	85				
RUSC1	23623	broad.mit.edu	37	1	155292224	155292224	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155292224C>T	uc001fkj.2	+	2	889	c.660C>T	c.(658-660)ATC>ATT	p.I220I	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Silent_p.I220I|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	220						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATGGGAAAATCGACGCTGGGA	0.502		NaN											0	0	0	0.00308	0	6	61				
ASH1L	55870	broad.mit.edu	37	1	155450002	155450002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450002G>C	uc009wqq.2	-	3	3139	c.2659C>G	c.(2659-2661)CCA>GCA	p.P887A	ASH1L_uc001fkt.2_Missense_Mutation_p.P887A|ASH1L_uc009wqr.1_Missense_Mutation_p.P887A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	887	A.T hook 1.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTTTTTGGAAAAGGAGAC	0.443		NaN											0	0	0	0.006214	0	6	69				
ASH1L	55870	broad.mit.edu	37	1	155450149	155450149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450149G>C	uc009wqq.2	-	3	2992	c.2512C>G	c.(2512-2514)CAA>GAA	p.Q838E	ASH1L_uc001fkt.2_Missense_Mutation_p.Q838E|ASH1L_uc009wqr.1_Missense_Mutation_p.Q838E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	838					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTTCCAGTTGAGGCATCTCC	0.408		NaN											0	0	0	0.000602	0	4	49				
YY1AP1	55249	broad.mit.edu	37	1	155631206	155631206	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155631206C>T	uc001fln.2	-	10	1050	c.1026G>A	c.(1024-1026)AAG>AAA	p.K342K	YY1AP1_uc001flg.2_Silent_p.K81K|YY1AP1_uc010pgg.1_Silent_p.K181K|YY1AP1_uc010pgh.1_Silent_p.K285K|YY1AP1_uc010pgi.1_Silent_p.K434K|YY1AP1_uc001flh.2_Silent_p.K414K|YY1AP1_uc009wqt.2_Silent_p.K265K|YY1AP1_uc001flk.2_Silent_p.K285K|YY1AP1_uc001fll.2_Silent_p.K296K|YY1AP1_uc009wqv.2_Silent_p.K13K|YY1AP1_uc001flm.2_Silent_p.K285K|YY1AP1_uc001fli.2_Silent_p.K296K|YY1AP1_uc009wqu.2_Silent_p.K129K|YY1AP1_uc001flj.2_Silent_p.K276K|YY1AP1_uc009wqw.2_Silent_p.K265K|YY1AP1_uc001flo.2_Silent_p.K230K|YY1AP1_uc001flp.2_Silent_p.K296K|YY1AP1_uc010pgj.1_Silent_p.K362K|YY1AP1_uc009wqx.2_Silent_p.K434K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	342					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTTGGTCTTCTTATAAAACT	0.453		NaN											0	0	0	0.003163	0	6	71				
GON4L	54856	broad.mit.edu	37	1	155774800	155774800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155774800C>G	uc001flz.2	-	11	1682	c.1585G>C	c.(1585-1587)GAT>CAT	p.D529H	GON4L_uc001fly.1_Missense_Mutation_p.D529H|GON4L_uc009wrh.1_Missense_Mutation_p.D529H|GON4L_uc001fma.1_Missense_Mutation_p.D529H|GON4L_uc001fmc.2_Missense_Mutation_p.D529H|GON4L_uc001fmd.3_Missense_Mutation_p.D529H|GON4L_uc009wri.2_Missense_Mutation_p.D115H|GON4L_uc009wrj.1_Missense_Mutation_p.D44H|GON4L_uc001fme.2_Missense_Mutation_p.D357H|GON4L_uc001fmf.2_Missense_Mutation_p.D223H	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	529	Asp-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCATCATCTGCCGTATTG	0.463		NaN											0	0	0	0.007291	0	23	222				
MEF2D	4209	broad.mit.edu	37	1	156438787	156438787	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156438787G>A	uc001fpc.2	-	10	1422	c.1032C>T	c.(1030-1032)CTC>CTT	p.L344L	MEF2D_uc001fpb.2_Silent_p.L337L|MEF2D_uc001fpd.2_Silent_p.L337L|MEF2D_uc001fpe.1_Silent_p.L344L|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	344					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTAAGGAGGAGAGCTCTGCAC	0.448		NaN											0	0	0	0.007413	0	13	91				
GPATCH4	54865	broad.mit.edu	37	1	156565223	156565223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156565223C>T	uc001fpm.2	-	8	949	c.910G>A	c.(910-912)GAA>AAA	p.E304K	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.E299K	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	299						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTCTTCATGGTGCCAC	0.542		NaN											0	0	0	0.010818	0	29	196				
HAPLN2	60484	broad.mit.edu	37	1	156594397	156594397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156594397G>A	uc001fpn.1	+	6	968	c.561G>A	c.(559-561)TGG>TGA	p.W187*		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	187	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCAGCTTGGACCGAGGGTC	0.716		NaN											0	0	0	0.006214	0	6	77				
NES	10763	broad.mit.edu	37	1	156642912	156642912	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156642912G>T	uc001fpq.2	-	4	1201	c.1068C>A	c.(1066-1068)CTC>CTA	p.L356L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	356	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTGAGGGGAGGGAAGTTG	0.602		NaN											1	0	6.40141e-05	0.010729	6.60002e-05	11	67				
INSRR	3645	broad.mit.edu	37	1	156815422	156815422	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156815422G>A	uc010pht.1	-	10	2417	c.2163C>T	c.(2161-2163)ATC>ATT	p.I721I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	721					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGATGGTGATCGCGTTGT	0.642		NaN											0	0	0	0.006214	0	9	85				
NTRK1	4914	broad.mit.edu	37	1	156830838	156830838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156830838G>A	uc001fqh.1	+	1	168	c.112G>A	c.(112-114)GAT>AAT	p.D38N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc010pht.1_5'Flank|INSRR_uc009wsj.1_5'Flank|NTRK1_uc001fqi.1_Missense_Mutation_p.D38N|NTRK1_uc009wsk.1_Missense_Mutation_p.D38N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	38	Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCTGCCCCGATGCCTGCTG	0.726		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.004482	0	7	22				
SPTA1	6708	broad.mit.edu	37	1	158632519	158632519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:158632519C>T	uc001fst.1	-	17	2636	c.2437G>A	c.(2437-2439)GAA>AAA	p.E813K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	813	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GCTGAGGGTTCAGTCTCTTGG	0.512		NaN											0	0	0	0.006214	0	7	51				
VANGL2	57216	broad.mit.edu	37	1	160389332	160389332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160389332C>T	uc001fwb.1	+	5	1032	c.733C>T	c.(733-735)CAG>TAG	p.Q245*	VANGL2_uc001fwc.1_Nonsense_Mutation_p.Q245*	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	245	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAGCCTCAGTTCACGCT	0.647		NaN											0	0	0	0.009096	0	4	64				
LY9	4063	broad.mit.edu	37	1	160793302	160793302	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160793302G>C	uc001fwu.2	+	8	1596	c.1546G>C	c.(1546-1548)GAG>CAG	p.E516Q	LY9_uc001fwv.2_Missense_Mutation_p.E502Q|LY9_uc001fww.2_Missense_Mutation_p.E426Q|LY9_uc001fwx.2_Missense_Mutation_p.E426Q|LY9_uc001fwy.1_Missense_Mutation_p.E314Q|LY9_uc001fwz.2_Missense_Mutation_p.E154Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	516	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAAGGATATGAGAAGCTGGA	0.552		NaN											0	0	0	0.004672	0	3	71				
MPZ	4359	broad.mit.edu	37	1	161276525	161276525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161276525G>A	uc001gaf.3	-	3	488	c.451C>T	c.(451-453)CAG>TAG	p.Q151*	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	141	Ig-like V-type.|Extracellular (Potential).				synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCGTGACCTGAGAGGTCTTG	0.507		NaN											0	0	0	0.003163	0	12	100				
FCGR3B	2215	broad.mit.edu	37	1	161596168	161596168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161596168C>T	uc009wul.2	-	4	618	c.344G>A	c.(343-345)CGG>CAG	p.R115Q		NM_000570	NP_000561	O75015	FCG3B_HUMAN	low affinity immunoglobulin gamma Fc region	115					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACACCCACCGAGGGGCCTG	0.562		NaN											0	0	0	0.001168	0	5	40				
FCRLA	84824	broad.mit.edu	37	1	161681858	161681858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161681858G>A	uc001gbe.2	+	5	945	c.703G>A	c.(703-705)GAT>AAT	p.D235N	FCRLA_uc001gbd.2_Missense_Mutation_p.D229N|FCRLA_uc001gbf.2_Missense_Mutation_p.D140N|FCRLA_uc001gbg.2_Missense_Mutation_p.D89N|FCRLA_uc009wuo.2_Missense_Mutation_p.D95N|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	212	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTTCTACAAGGATGGAAGGAT	0.562		NaN											0	0	0	0.004482	0	9	77				
OLFML2B	25903	broad.mit.edu	37	1	161993194	161993194	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161993194G>A	uc001gbu.2	-	1	451	c.27C>T	c.(25-27)CTC>CTT	p.L9L	OLFML2B_uc010pkq.1_Silent_p.L9L	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	9										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAGCGAAGTAGAGAACTAGCA	0.632		NaN											0	0	0	0.001168	0	6	56				
UAP1	6675	broad.mit.edu	37	1	162535885	162535885	+	Silent	SNP	G	G	A	rs151151506		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:162535885G>A	uc001gce.3	+	2	356	c.27G>A	c.(25-27)ACG>ACA	p.T9T		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	9					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAAACTCACGTTGTCCAAAG	0.413		NaN											0	0	0	0.00245	0	10	90				
POU2F1	5451	broad.mit.edu	37	1	167367230	167367230	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167367230G>A	uc001gec.2	+	12	1223	c.1061_splice	c.e12-1	p.E354_splice	POU2F1_uc001ged.2_Splice_Site_p.E352_splice|POU2F1_uc001gee.2_Splice_Site_p.E354_splice|POU2F1_uc010plh.1_Splice_Site_p.E291_splice|POU2F1_uc001gef.2_Splice_Site_p.E366_splice|POU2F1_uc001geg.2_Splice_Site_p.E252_splice|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						CATTCTTACAGAGAACCTCTC	0.413		NaN											0	0	0	0.00308	0	6	26				
RCSD1	92241	broad.mit.edu	37	1	167653186	167653186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167653186C>A	uc001gem.2	+	2	243	c.56C>A	c.(55-57)TCG>TAG	p.S19*	RCSD1_uc010pli.1_Nonsense_Mutation_p.S19*	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	19										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GCGTCCCCCTCGGTGGCCCAG	0.602		NaN											1	0	1.19403e-26	0.00361	1.29171e-26	47	376				
ADCY10	55811	broad.mit.edu	37	1	167778974	167778974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167778974G>C	uc001ger.2	-	33	5072	c.4774C>G	c.(4774-4776)CAG>GAG	p.Q1592E	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.Q1500E|ADCY10_uc010plj.1_Missense_Mutation_p.Q1439E	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1592					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TGAAGATCCTGAATGTTTACC	0.373		NaN											0	0	0	0.009096	0	3	87				
ADCY10	55811	broad.mit.edu	37	1	167849781	167849781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167849781G>A	uc001ger.2	-	10	1385	c.1087C>T	c.(1087-1089)CTG>TTG	p.L363L	ADCY10_uc009wvk.2_Silent_p.L271L|ADCY10_uc010plj.1_Silent_p.L210L|ADCY10_uc009wvl.2_Silent_p.L362L|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	363	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GCACATTCCAGAGCATGAGTG	0.522		NaN											0	0	0	0.010729	0	12	93				
SLC19A2	10560	broad.mit.edu	37	1	169437922	169437922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169437922C>G	uc001gge.3	-	4	1387	c.1183G>C	c.(1183-1185)GTC>CTC	p.V395L	SLC19A2_uc001ggf.3_Missense_Mutation_p.V194L	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	395	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					ATTCTGAAGACAACATAGGAT	0.383		NaN											0	0	0	0.00308	0	5	56				
SLC19A2	10560	broad.mit.edu	37	1	169446801	169446801	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169446801G>A	uc001gge.3	-	2	603	c.399C>T	c.(397-399)ATC>ATT	p.I133I	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	133	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					TGGCTGTGGCGATGCCATAAA	0.453		NaN											0	0	0	0.010729	0	10	94				
F5	2153	broad.mit.edu	37	1	169512269	169512269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169512269C>T	uc001ggg.1	-	13	2204	c.2059G>A	c.(2059-2061)GAT>AAT	p.D687N		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	687					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCATCATCATCTGGGATACAT	0.398		NaN											0	0	0	0.001168	0	6	53				
PRDX6	9588	broad.mit.edu	37	1	173454533	173454533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:173454533G>A	uc001giy.1	+	3	337	c.286G>A	c.(286-288)GAA>AAA	p.E96K		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						AGAGCCCACAGAAAAGTTACC	0.438		NaN											0	0	0	0.009096	0	3	37				
GPR52	9293	broad.mit.edu	37	1	174417291	174417291	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:174417291G>T	uc001gka.1	+	1	80	c.42G>T	c.(40-42)ATG>ATT	p.M14I	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	14	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TCCTGAACATGAGCAGTGGCA	0.507		NaN											1	0	2.61681e-11	0.00245	2.77755e-11	12	91				
TNN	63923	broad.mit.edu	37	1	175097777	175097777	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175097777G>A	uc001gkl.1	+	15	3338	c.3225G>A	c.(3223-3225)CAG>CAA	p.Q1075Q		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1075	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGTTCAGCAGAACAGCAATG	0.582		NaN											0	0	0	0.00361	0	80	197				
TNR	7143	broad.mit.edu	37	1	175372540	175372540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175372540C>T	uc001gkp.1	-	2	793	c.712G>A	c.(712-714)GAC>AAC	p.D238N	TNR_uc009wwu.1_Missense_Mutation_p.D238N|TNR_uc010pmz.1_Missense_Mutation_p.D238N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	238	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GAGCTGCAGTCTGTTGGGCAC	0.647		NaN											0	0	0	0.009535	0	30	310				
ASTN1	460	broad.mit.edu	37	1	176833599	176833599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:176833599G>A	uc001glc.2	-	23	3918	c.3706C>T	c.(3706-3708)CTT>TTT	p.L1236F	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1244					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GGTTCCTGAAGGAGTCCATTG	0.532		NaN											0	0	0	0.00308	0	7	60				
SEC16B	89866	broad.mit.edu	37	1	177937001	177937001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:177937001G>C	uc001gli.1	-	2	206	c.116C>G	c.(115-117)TCT>TGT	p.S39C	SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.S39C|SEC16B_uc001gll.3_Missense_Mutation_p.S39C	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	39	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						ATTGTGCCAAGAGTGAGGGAC	0.607		NaN											0	0	0	0.002299	0	20	150				
TOR3A	64222	broad.mit.edu	37	1	179054980	179054980	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179054980C>T	uc001gmd.2	+	3	743	c.591C>T	c.(589-591)TTC>TTT	p.F197F	TOR3A_uc010pnd.1_Intron	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	197					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1						TCAGGATGTTCATCGCCACGT	0.592		NaN											0	0	0	0.007413	0	19	139				
TDRD5	163589	broad.mit.edu	37	1	179600039	179600039	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179600039G>A	uc001gnf.1	+	7	1360	c.1110G>A	c.(1108-1110)AAG>AAA	p.K370K	TDRD5_uc010pnp.1_Silent_p.K370K|TDRD5_uc001gnh.1_5'UTR	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	370	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						ATGCGGATAAGAAGCCTCTAC	0.413		NaN											0	0	0	0.008291	0	4	84				
TOR1AIP1	26092	broad.mit.edu	37	1	179883175	179883175	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179883175C>G	uc001gnq.2	+	9	1168	c.950C>G	c.(949-951)TCA>TGA	p.S317*		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	317	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						CAGTCACCATCAACCTCCAGC	0.303		NaN											0	0	0	0.001984	0	4	52				
HMCN1	83872	broad.mit.edu	37	1	186037086	186037086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186037086G>A	uc001grq.1	+	50	8055	c.7826G>A	c.(7825-7827)TGG>TAG	p.W2609*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2609	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACCATCACCTGGTTTAAGGAT	0.428		NaN											0	0	0	0.002299	0	16	62				
TPR	7175	broad.mit.edu	37	1	186322838	186322838	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186322838C>T	uc001grv.2	-	18	2613	c.2316G>A	c.(2314-2316)GAG>GAA	p.E772E		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	772	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTAGCTTCTCATTTGCTC	0.363		NaN	T	NTRK1	papillary thyroid								0	0	0	0.00278	0	17	135				
FAM5C	339479	broad.mit.edu	37	1	190250836	190250836	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:190250836C>T	uc001gse.1	-	3	513	c.281G>A	c.(280-282)AGA>AAA	p.R94K	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	94						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AAGGAAATTTCTTCTCTCAAC	0.398		NaN											0	0	0	0.004672	0	3	9				
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201437671C>T	uc001gwq.2	-	1	629	c.244G>A	c.(244-246)GAG>AAG	p.E82K	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						AAGTCGATCTCGCCGCCCCCT	0.652		NaN											0	0	0	0.00361	0	62	139				
RNPEP	6051	broad.mit.edu	37	1	201965372	201965372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201965372G>A	uc001gxd.2	+	4	864	c.835G>A	c.(835-837)GGA>AGA	p.G279R	RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.G148R	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	279					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCTTTTTGGACCTTATGT	0.493		NaN											0	0	0	0.008871	0	13	147				
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:204380470A>G	uc001hav.3	-	1	475	c.70T>C	c.(70-72)TTT>CTT	p.F24L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627		NaN											0	0	0	0.001168	0	4	117				
SLC45A3	85414	broad.mit.edu	37	1	205628553	205628553	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:205628553C>A	uc001hda.1	-	5	1810	c.1471G>T	c.(1471-1473)GAC>TAC	p.D491Y	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	491					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ATGGCGAGGTCCAGGCAGATG	0.642		NaN	T	ETV1|ETV5|ELK4|ERG	prostate 						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.32416e-17	0.002299	2.50175e-17	18	46				
AVPR1B	553	broad.mit.edu	37	1	206224493	206224493	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206224493C>G	uc001hds.2	+	1	211	c.53C>G	c.(52-54)TCT>TGT	p.S18C		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	18	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCACCCTCTCTGCCCCCAAT	0.652		NaN											0	0	0	0.00361	0	109	506				
DYRK3	8444	broad.mit.edu	37	1	206821558	206821558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821558G>C	uc001hej.2	+	3	1183	c.1015G>C	c.(1015-1017)GAA>CAA	p.E339Q	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E319Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	339	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTGAAGCCAGAAAACATTCT	0.468		NaN											0	0	0	0.00499	0	14	80				
DYRK3	8444	broad.mit.edu	37	1	206821678	206821678	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821678G>C	uc001hej.2	+	3	1303	c.1135G>C	c.(1135-1137)GAA>CAA	p.E379Q	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E359Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	379	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAGCTCCAGAAATCATCTT	0.488		NaN											0	0	0	0.00245	0	12	65				
DYRK3	8444	broad.mit.edu	37	1	206821905	206821905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821905G>A	uc001hej.2	+	3	1530	c.1362G>A	c.(1360-1362)GTG>GTA	p.V454V	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.V434V	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	454	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACTGCTCTGTGACTACCCAGG	0.552		NaN											0	0	0	0.011902	0	35	372				
CR1	1378	broad.mit.edu	37	1	207679266	207679266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:207679266G>A	uc001hfy.2	+	2	279	c.139G>A	c.(139-141)GAA>AAA	p.E47K	CR1_uc009xcl.1_Missense_Mutation_p.E47K|CR1_uc001hfx.2_Missense_Mutation_p.E47K|CR1_uc010psg.1_Missense_Mutation_p.E47K|CR1_uc009xcj.1_Missense_Mutation_p.E47K|CR1_uc009xck.1_Missense_Mutation_p.E47K	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	47	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAATGCCCCAGAATGGCTTCC	0.373		NaN											0	0	0	0.006122	0	15	58				
IRF6	3664	broad.mit.edu	37	1	209968639	209968639	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:209968639G>A	uc001hhq.1	-	5	767	c.504C>T	c.(502-504)ATC>ATT	p.I168I	IRF6_uc010psm.1_Silent_p.I73I|IRF6_uc009xct.1_Silent_p.I168I	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	168					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACTCACCATTGATGTTCAGGA	0.488		NaN								HNSCC(57;0.16)			0	0	0	0.00361	0	40	141				
USH2A	7399	broad.mit.edu	37	1	215916588	215916588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:215916588G>A	uc001hku.1	-	59	11866	c.11479C>T	c.(11479-11481)CAA>TAA	p.Q3827*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3827	Fibronectin type-III 23.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGATTGATGATGACCA	0.438		NaN								HNSCC(13;0.011)			0	0	0	0.011902	0	34	113				
PARP1	142	broad.mit.edu	37	1	226555291	226555291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226555291C>T	uc001hqd.3	-	17	2467	c.2296G>A	c.(2296-2298)GAC>AAC	p.D766N		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	766	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCAGGTTGTCAAGCATTTCC	0.512		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	0.002836	0	25	73				
PARP1	142	broad.mit.edu	37	1	226567866	226567866	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226567866C>G	uc001hqd.3	-	10	1472	c.1301_splice	c.e10-1	p.K434_splice		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1						cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCACCTCCTCTGTTCAAATT	0.388		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	0.009096	0	3	26				
WNT3A	89780	broad.mit.edu	37	1	228210479	228210479	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228210479G>T	uc001hrq.1	+	2	261	c.183G>T	c.(181-183)GAG>GAT	p.E61D	WNT3A_uc001hrp.1_Missense_Mutation_p.E61D	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	61					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				ACTACGTGGAGATCATGCCCA	0.652		NaN											1	0	9.65021e-13	0.010818	1.02851e-12	26	111				
OBSCN	84033	broad.mit.edu	37	1	228466439	228466439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228466439G>A	uc009xez.1	+	26	6953	c.6909G>A	c.(6907-6909)GAG>GAA	p.E2303E	OBSCN_uc001hsn.2_Silent_p.E2303E|OBSCN_uc001hsp.1_Silent_p.E2E|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2303	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TTGCCATGGAGAAGCACCGCG	0.667		NaN											0	0	0	0.00361	0	40	139				
SIPA1L2	57568	broad.mit.edu	37	1	232615474	232615474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:232615474C>T	uc001hvg.2	-	5	2142	c.1984G>A	c.(1984-1986)GAT>AAT	p.D662N		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	662	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGTGGAATCAGCTGAAAAC	0.398		NaN											0	0	0	0.001368	0	11	39				
TOMM20	9804	broad.mit.edu	37	1	235292007	235292007	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235292007G>A	uc001hwl.2	-	1	250	c.24C>T	c.(22-24)ATC>ATT	p.I8I	SNORA14B_uc001hwm.1_5'Flank	NM_014765	NP_055580	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20	8	Helical; (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding				0	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CACCGGCGGCGATGGCGCTGT	0.607		NaN											0	0	0	0.00361	0	72	168				
ARID4B	51742	broad.mit.edu	37	1	235345386	235345386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235345386C>T	uc001hwq.2	-	20	3346	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	ARID4B_uc001hwr.2_Missense_Mutation_p.E864K|ARID4B_uc001hws.3_Missense_Mutation_p.E864K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.E631K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	950					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTGCAGCCTCAGTATCAGAG	0.517		NaN											0	0	0	0.004007	0	14	59				
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235920623G>A	uc001hxj.2	-	24	7192	c.7017C>T	c.(7015-7017)CTC>CTT	p.L2339L		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTGGTTAACGAGGACCAAAA	0.333		NaN							Chediak-Higashi_syndrome				0	0	0	0.010729	0	9	62				
NID1	4811	broad.mit.edu	37	1	236212147	236212147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:236212147C>T	uc001hxo.2	-	2	470	c.368G>A	c.(367-369)CGA>CAA	p.R123Q	NID1_uc009xgd.2_Missense_Mutation_p.R123Q	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	123	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TAAGTCTTCTCGATAATAAAC	0.567		NaN											0	0	0	0.004656	0	26	74				
CEP170	9859	broad.mit.edu	37	1	243328189	243328189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:243328189C>T	uc001hzs.2	-	13	3481	c.3073G>A	c.(3073-3075)GAT>AAT	p.D1025N	CEP170_uc001hzt.2_Missense_Mutation_p.D927N|CEP170_uc001hzu.2_Missense_Mutation_p.D927N|CEP170_uc001hzv.1_Missense_Mutation_p.D403N	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1025	Targeting to microtubules.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTTGGTCATCATCTGTTAAG	0.423		NaN											0	0	0	0.006214	0	8	41				
PPPDE1	51029	broad.mit.edu	37	1	244868944	244868944	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:244868944G>A	uc001iao.2	+	5	702	c.438G>A	c.(436-438)CCG>CCA	p.P146P	PPPDE1_uc001iap.2_Silent_p.P113P|PPPDE1_uc001iaq.1_RNA	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	146	PPPDE peptidase.									breast(3)	3						GTTGCCTCCCGAAGGAGTGGC	0.537		NaN											0	0	0	0.00361	0	38	129				
NLRP3	114548	broad.mit.edu	37	1	247587980	247587980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:247587980C>T	uc001icr.2	+	5	1373	c.1235C>T	c.(1234-1236)CCC>CTC	p.P412L	NLRP3_uc001ics.2_Missense_Mutation_p.P412L|NLRP3_uc001icu.2_Missense_Mutation_p.P412L|NLRP3_uc001icw.2_Missense_Mutation_p.P412L|NLRP3_uc001icv.2_Missense_Mutation_p.P412L|NLRP3_uc010pyw.1_Missense_Mutation_p.P410L|NLRP3_uc001ict.1_Missense_Mutation_p.P410L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	412	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTTCATCCCCCTGGTCTGC	0.542		NaN											0	0	0	0.001168	0	5	91				
SH3BP5L	80851	broad.mit.edu	37	1	249106422	249106422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:249106422G>A	uc001iew.1	-	7	1411	c.859C>T	c.(859-861)CGG>TGG	p.R287W	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R180W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R255W|SH3BP5L_uc001iev.1_Missense_Mutation_p.R168W	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	287											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GAGGAGCGCCGAGGGCCCAGG	0.721		NaN											0	0	0	0.00308	0	5	39				
GDI2	2665	broad.mit.edu	37	10	5810189	5810189	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:5810189G>C	uc001iil.3	-	8	1269	c.978C>G	c.(976-978)GTC>GTG	p.V326V	GDI2_uc001iim.3_Silent_p.V281V|GDI2_uc009xid.2_Silent_p.V330V	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	326					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						ACTTTCGATTGACTTGGTTCT	0.408		NaN											0	0	0	0.012319	0	17	89				
NMT2	9397	broad.mit.edu	37	10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:15175327C>G	uc001inz.1	-	4	511	c.427G>C	c.(427-429)GAT>CAT	p.D143H	NMT2_uc001ioa.1_Missense_Mutation_p.D130H|NMT2_uc009xjo.1_Missense_Mutation_p.D143H|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						TTGTCTTTATCTGGTTCAATT	0.398		NaN											0	0	0	0.00245	0	10	85				
VIM	7431	broad.mit.edu	37	10	17276805	17276805	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:17276805C>T	uc001iou.2	+	6	1409	c.996C>T	c.(994-996)GCC>GCT	p.A332A	VIM_uc001iov.1_Silent_p.A332A|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.A332A|VIM_uc001ioy.1_Silent_p.A332A|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.A332A	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	332	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AAGTGGATGCCCTTAAAGGAA	0.517		NaN											0	0	0	0.000602	0	4	48				
C10orf140	387640	broad.mit.edu	37	10	21804708	21804708	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:21804708G>A	uc009xkd.2	-	4	4297	c.2044C>T	c.(2044-2046)CTG>TTG	p.L682L	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	601						nucleus	nucleotide binding			ovary(1)	1						ATATTGTGCAGAAATGGCAAT	0.433		NaN											0	0	0	0.001984	0	6	48				
ARMC3	219681	broad.mit.edu	37	10	23321936	23321936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:23321936G>A	uc001irm.3	+	18	2476	c.2393G>A	c.(2392-2394)CGA>CAA	p.R798Q	ARMC3_uc010qcv.1_Missense_Mutation_p.R791Q|ARMC3_uc010qcw.1_Missense_Mutation_p.R535Q	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798							binding				0						TTCTACCATCGAGCTTTGCTT	0.363		NaN											0	0	0	0.004482	0	5	21				
KIAA1462	57608	broad.mit.edu	37	10	30317490	30317490	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30317490C>G	uc001iux.2	-	2	1646	c.1587G>C	c.(1585-1587)GTG>GTC	p.V529V	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V391V|KIAA1462_uc009xle.1_Silent_p.V529V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	529										ovary(4)	4						GGCTGCCTCTCACATCAGGCC	0.612		NaN											0	0	0	0.00623	0	32	217				
LYZL2	119180	broad.mit.edu	37	10	30915075	30915075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30915075C>T	uc001ivk.2	-	3	408	c.395G>A	c.(394-396)GGA>GAA	p.G132E		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	86					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				CTTCAGCTTTCCGCGTCTGCA	0.572		NaN											0	0	0	0.012319	0	17	139				
PARD3	56288	broad.mit.edu	37	10	34420503	34420503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:34420503G>C	uc010qej.1	-	23	3437	c.3437C>G	c.(3436-3438)TCA>TGA	p.S1146*	PARD3_uc010qek.1_Nonsense_Mutation_p.S1143*|PARD3_uc010qel.1_Nonsense_Mutation_p.S1109*|PARD3_uc010qem.1_Nonsense_Mutation_p.S1130*|PARD3_uc010qen.1_Nonsense_Mutation_p.S1100*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S1063*|PARD3_uc010qep.1_Nonsense_Mutation_p.S1056*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S1034*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1146					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				GCTAGGAGTTGATCTGTTACT	0.423		NaN											0	0	0	0.003163	0	13	82				
RBP3	5949	broad.mit.edu	37	10	48389979	48389979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:48389979C>G	uc001jez.2	-	1	1013	c.899G>C	c.(898-900)GGG>GCG	p.G300A		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	300	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGGCAGCACCCCGCTGCCCTC	0.677		NaN											0	0	0	0.008291	0	8	34				
ERCC6	2074	broad.mit.edu	37	10	50740821	50740821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:50740821C>T	uc001jhs.3	-	2	344	c.190G>A	c.(190-192)GCA>ACA	p.A64T	PGBD3_uc009xoe.2_Missense_Mutation_p.A64T|PGBD3_uc001jhu.2_Missense_Mutation_p.A64T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	64					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CTCGGAGCTGCTGATGCGCAC	0.607		NaN						Direct_reversal_of_damage|NER					0	0	0	0.003954	0	24	76				
ANK3	288	broad.mit.edu	37	10	61833285	61833285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:61833285C>G	uc001jky.2	-	37	7546	c.7354G>C	c.(7354-7356)GAG>CAG	p.E2452Q	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2452					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCTGACAACTCATCGTCATGG	0.403		NaN											0	0	0	0.00308	0	8	39				
NEUROG3	50674	broad.mit.edu	37	10	71332658	71332658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:71332658C>T	uc001jpp.2	-	2	300	c.142G>A	c.(142-144)GAG>AAG	p.E48K		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	48					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity				0						TCTTCCGCCTCTGCGCAGTTC	0.721		NaN											0	0	0	0.010729	0	10	34				
C10orf54	64115	broad.mit.edu	37	10	73521588	73521588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:73521588G>A	uc001jsd.2	-	2	419	c.278C>T	c.(277-279)ACG>ATG	p.T93M	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.T93M	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	93	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GTCCTGGAACGTGAGGTTGCG	0.652		NaN											0	0	0	0.012319	0	20	64				
KCNMA1	3778	broad.mit.edu	37	10	78708987	78708987	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:78708987G>C	uc001jxn.2	-	22	2799	c.2622C>G	c.(2620-2622)CTC>CTG	p.L874L	KCNMA1_uc001jxj.2_Silent_p.L820L|KCNMA1_uc001jxk.1_Silent_p.L492L|KCNMA1_uc009xrt.1_Silent_p.L665L|KCNMA1_uc001jxl.1_Silent_p.L499L|KCNMA1_uc001jxo.2_Silent_p.L857L|KCNMA1_uc001jxm.2_Silent_p.L816L|KCNMA1_uc001jxq.2_Silent_p.L819L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	874	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAATGTGCTTGAGCTCATGGT	0.527		NaN											0	0	0	0.004289	0	31	95				
IFIT2	3433	broad.mit.edu	37	10	91066371	91066371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:91066371C>T	uc009xts.2	+	2	833	c.658C>T	c.(658-660)CAT>TAT	p.H220Y	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	220					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				TCTGAAGCTTCATAAGATGCG	0.502		NaN											0	0	0	0.001984	0	4	39				
CC2D2B	387707	broad.mit.edu	37	10	97772423	97772423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:97772423C>G	uc001kll.2	+	4	454	c.255C>G	c.(253-255)ATC>ATG	p.I85M	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.I85M	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	85										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CAAGATATATCAAGGCATTAA	0.299		NaN											0	0	0	0.008291	0	9	26				
TLL2	7093	broad.mit.edu	37	10	98205917	98205917	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:98205917C>G	uc001kml.1	-	3	521	c.295G>C	c.(295-297)GAA>CAA	p.E99Q	TLL2_uc009xvf.1_Missense_Mutation_p.E99Q	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	99					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCTGCTCTTCAAGCCCACCT	0.557		NaN											0	0	0	0.007291	0	29	92				
PI4K2A	55361	broad.mit.edu	37	10	99416092	99416092	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:99416092G>A	uc001kog.1	+	3	744	c.687G>A	c.(685-687)GTG>GTA	p.V229V	PI4K2A_uc010qoy.1_Silent_p.V199V|PI4K2A_uc009xvw.1_5'UTR	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	229	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTGACCGAGTGAAGTCCAGGG	0.493		NaN											0	0	0	0.003163	0	13	74				
PYROXD2	84795	broad.mit.edu	37	10	100174797	100174797	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:100174797C>T	uc001kpc.2	-	1	182	c.96G>A	c.(94-96)AAG>AAA	p.K32K	PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.K32K	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	32							oxidoreductase activity			central_nervous_system(1)	1						CATACTCAGGCTTCAGACCTC	0.617		NaN											0	0	0	0.00361	0	67	249				
ENTPD7	57089	broad.mit.edu	37	10	101464399	101464399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:101464399G>A	uc001kqa.3	+	13	1952	c.1774G>A	c.(1774-1776)GAA>AAA	p.E592K	ENTPD7_uc009xwl.2_Missense_Mutation_p.E594K	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	592	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCTGTGGCTTGAAGAGGTGGT	0.572		NaN											0	0	0	0.003163	0	12	20				
PKD2L1	9033	broad.mit.edu	37	10	102058407	102058407	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:102058407C>G	uc001kqx.1	-	4	1026	c.643G>C	c.(643-645)GAC>CAC	p.D215H	PKD2L1_uc009xwm.1_Missense_Mutation_p.D168H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	215	Extracellular (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCCGGAAGTCTTCATGCACC	0.542		NaN											0	0	0	0.00361	0	53	117				
CNNM2	54805	broad.mit.edu	37	10	104678579	104678579	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:104678579G>A	uc001kwm.2	+	1	466	c.342G>A	c.(340-342)ACG>ACA	p.T114T	CNNM2_uc001kwn.2_Silent_p.T114T|CNNM2_uc001kwl.2_Silent_p.T114T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	114					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATAACGAGACGTGGTCCCGCA	0.547		NaN											0	0	0	0.001855	0	10	32				
PDCD11	22984	broad.mit.edu	37	10	105179396	105179396	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105179396G>A	uc001kwy.1	+	16	2295	c.2208G>A	c.(2206-2208)GTG>GTA	p.V736V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	736	S1 motif 8.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGTTTTGTGAAGAGCATCA	0.498		NaN											0	0	0	0.002299	0	19	73				
CALHM2	51063	broad.mit.edu	37	10	105207266	105207266	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105207266G>C	uc001kwz.2	-	3	1001	c.615C>G	c.(613-615)CTC>CTG	p.L205L	CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	205	Helical; (Potential).					integral to membrane				skin(1)	1						AGTAATGCTTGAGGCACTTGG	0.617		NaN											0	0	0	0.008871	0	18	52				
C10orf79	80217	broad.mit.edu	37	10	105942240	105942240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105942240G>C	uc001kxw.2	-	17	2289	c.2173C>G	c.(2173-2175)CTG>GTG	p.L725V	C10orf79_uc009xxq.2_Missense_Mutation_p.L33V|C10orf79_uc001kxx.3_Missense_Mutation_p.L726V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	725											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TAATAGTCCAGAATTTCACTG	0.348		NaN											0	0	0	0.00308	0	7	38				
PDZD8	118987	broad.mit.edu	37	10	119044035	119044035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:119044035C>T	uc001lde.1	-	5	2408	c.2209G>A	c.(2209-2211)GAA>AAA	p.E737K		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GCCACATCTTCAAGTTTTAAA	0.453		NaN											0	0	0	0.004482	0	9	30				
FAM175B	23172	broad.mit.edu	37	10	126523473	126523473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:126523473C>T	uc001lib.3	+	9	1226	c.1181C>T	c.(1180-1182)TCA>TTA	p.S394L		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	394						BRISC complex	polyubiquitin binding				0						TACTCACATTCAAAGGATTCT	0.463		NaN											0	0	0	0.00499	0	14	47				
RIC8A	60626	broad.mit.edu	37	11	209946	209946	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:209946C>T	uc001log.2	+	3	997	c.672C>T	c.(670-672)ATC>ATT	p.I224I	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.I224I|RIC8A_uc001loh.2_Silent_p.I217I	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	224						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCATGGAGATCCTCAAAGTGC	0.577		NaN											0	0	0	0.010729	0	11	72				
MUC5B	727897	broad.mit.edu	37	11	1159327	1159327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1159327C>T	uc009ycr.1	+	12	1430	c.1304C>T	c.(1303-1305)TCT>TTT	p.S435F		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	426	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTACCTGCTCTGTGCTTGGA	0.637		NaN											0	0	0	0.010504	0	19	105				
MUC5B	727897	broad.mit.edu	37	11	1272547	1272547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1272547C>T	uc009ycr.1	+	52	15529	c.15403C>T	c.(15403-15405)CTG>TTG	p.L5135L	MUC5B_uc001ltb.2_Silent_p.L4816L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4758	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGGACGAC	0.627		NaN											0	0	0	0.002299	0	20	130				
TOLLIP	54472	broad.mit.edu	37	11	1298324	1298324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1298324C>T	uc001lte.2	-	6	881	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	TOLLIP_uc001ltd.2_Missense_Mutation_p.R188Q|TOLLIP_uc009ycu.2_Missense_Mutation_p.R196Q|TOLLIP_uc001ltf.2_Missense_Mutation_p.R207Q	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	257	CUE.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTTGTTCCCTCGCTGGGCTTC	0.627		NaN											0	0	0	0.009535	0	24	163				
SYT9	143425	broad.mit.edu	37	11	7334658	7334658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7334658C>T	uc001mfe.2	+	3	767	c.530C>T	c.(529-531)TCA>TTA	p.S177L	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	177	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTCAACTTGTCAAACCCGGAC	0.378		NaN											0	0	0	0.000602	0	3	33				
PPFIBP2	8495	broad.mit.edu	37	11	7647116	7647116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7647116G>C	uc001mfj.3	+	8	1208	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	PPFIBP2_uc010rbb.1_Missense_Mutation_p.E197Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.E197Q|PPFIBP2_uc010rbd.1_Missense_Mutation_p.E116Q|PPFIBP2_uc010rbe.1_Missense_Mutation_p.E162Q|PPFIBP2_uc001mfl.3_Missense_Mutation_p.E131Q	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	274	Potential.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAGTCACACAGAGAGAGGTGA	0.507		NaN											0	0	0	0.009096	0	3	38				
NLRP10	338322	broad.mit.edu	37	11	7982410	7982410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7982410C>T	uc001mfv.1	-	2	766	c.749G>A	c.(748-750)GGC>GAC	p.G250D		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	250	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCAAAGCCATCCAGGAT	0.527		NaN											0	0	0	0.001168	0	4	51				
SCUBE2	57758	broad.mit.edu	37	11	9051467	9051467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:9051467C>T	uc001mhh.1	-	18	2460	c.2380G>A	c.(2380-2382)GAC>AAC	p.D794N	SCUBE2_uc001mhi.1_Missense_Mutation_p.D766N|SCUBE2_uc001mhj.1_Missense_Mutation_p.D668N	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	794						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CCATCAAAGTCAGTCGTAGTA	0.448		NaN											0	0	0	0.00632	0	22	156				
AMPD3	272	broad.mit.edu	37	11	10500089	10500089	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10500089A>G	uc001mio.1	+	3	573	c.238A>G	c.(238-240)ATG>GTG	p.M80V	AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.M89V|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.M80V|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.M87V|AMPD3_uc009yfy.2_Missense_Mutation_p.M80V	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	80					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGTTTCAAGATGATTCGGTC	0.532		NaN											0	0	0	0.00361	0	88	232				
EIF4G2	1982	broad.mit.edu	37	11	10823911	10823911	+	Silent	SNP	G	G	A	rs142114099		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10823911G>A	uc001mjc.2	-	12	1485	c.1068C>T	c.(1066-1068)TTC>TTT	p.F356F	EIF4G2_uc001mjb.2_Silent_p.F150F|EIF4G2_uc009ygf.2_Silent_p.F150F|EIF4G2_uc001mjd.2_Silent_p.F356F|EIF4G2_uc001mjf.1_Silent_p.F150F|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	356					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGGTGGCATGAACGGTCCCT	0.428		NaN											0	0	0	0.00278	0	21	130				
SPON1	10418	broad.mit.edu	37	11	14280896	14280896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280896G>A	uc001mle.2	+	13	2101	c.1563G>A	c.(1561-1563)ATG>ATA	p.M521I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	521	TSP type-1 2.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GCATGGGCATGAGGTCCCGGG	0.627		NaN											0	0	0	0.008291	0	7	46				
SPON1	10418	broad.mit.edu	37	11	14280908	14280908	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280908G>A	uc001mle.2	+	13	2113	c.1575G>A	c.(1573-1575)GAG>GAA	p.E525E		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	525	TSP type-1 2.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GGTCCCGGGAGAGGTATGTGA	0.632		NaN											0	0	0	0.010729	0	7	46				
SPON1	10418	broad.mit.edu	37	11	14282247	14282247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14282247G>C	uc001mle.2	+	15	2483	c.1945G>C	c.(1945-1947)GAC>CAC	p.D649H		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	649	TSP type-1 4.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AGAACTTGGAGACTGCAATGA	0.577		NaN											0	0	0	0.003954	0	20	76				
COPB1	1315	broad.mit.edu	37	11	14487843	14487843	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14487843C>G	uc001mli.2	-	17	2582	c.2275G>C	c.(2275-2277)GAA>CAA	p.E759Q	COPB1_uc001mlg.2_Missense_Mutation_p.E759Q|COPB1_uc001mlh.2_Missense_Mutation_p.E759Q	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	759					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						GTAGCTAGTTCTAATGTGCAA	0.383		NaN											0	0	0	0.004656	0	22	96				
TPH1	7166	broad.mit.edu	37	11	18057567	18057567	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:18057567C>T	uc001mnp.2	-	2	266	c.240G>A	c.(238-240)CTG>CTA	p.L80L	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	80	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TATGAGACTTCAGCAGATGAA	0.318		NaN											0	0	0	0.00308	0	7	32				
LRP4	4038	broad.mit.edu	37	11	46917828	46917828	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:46917828C>T	uc001ndn.3	-	9	1127	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	327	Extracellular (Potential).|LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		ACAGCTTCCTCTGCCCAATGC	0.597		NaN											0	0	0	0.00333	0	23	122				
MTCH2	23788	broad.mit.edu	37	11	47660529	47660529	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:47660529G>C	uc010rho.1	-	2	351	c.162C>G	c.(160-162)CTC>CTG	p.L54L	MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	54	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0						CATAACTAAAGAGACCAGGAA	0.383		NaN											0	0	0	0.00499	0	13	43				
SSRP1	6749	broad.mit.edu	37	11	57100260	57100260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:57100260G>A	uc001njt.2	-	6	874	c.607C>T	c.(607-609)CGG>TGG	p.R203W	SSRP1_uc010rjq.1_Missense_Mutation_p.R203W	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	203					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						TGCAGCTCCCGGAAGATGCAG	0.527		NaN											0	0	0	0.001984	0	5	71				
MS4A1	931	broad.mit.edu	37	11	60233575	60233575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:60233575C>T	uc001npp.2	+	6	934	c.518C>T	c.(517-519)TCT>TTT	p.S173F	MS4A1_uc001npq.2_Missense_Mutation_p.S173F|MS4A1_uc009yna.2_Missense_Mutation_p.S173F|MS4A1_uc009ymz.2_Missense_Mutation_p.S173F|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	173	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCTAATCCCTCTGAGAAAAAC	0.358		NaN											0	0	0	0.009535	0	29	72				
VWCE	220001	broad.mit.edu	37	11	61026481	61026481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61026481G>A	uc001nra.2	-	20	2813	c.2534C>T	c.(2533-2535)TCA>TTA	p.S845L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	845	Pro-rich.					extracellular region	calcium ion binding			ovary(1)	1						AGGCCCTGGTGAGAGTCGAGG	0.642		NaN											0	0	0	0.010729	0	10	32				
C11orf66	220004	broad.mit.edu	37	11	61252187	61252187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61252187G>C	uc001nru.1	+	5	534	c.409G>C	c.(409-411)GAG>CAG	p.E137Q	C11orf66_uc009ynq.1_Missense_Mutation_p.E137Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	137										ovary(1)	1						CGACACCCAGGAGCACGGGCC	0.537		NaN											0	0	0	0.004482	0	5	30				
C11orf9	745	broad.mit.edu	37	11	61545871	61545871	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545871G>A	uc001nsc.1	+	14	2019	c.1923G>A	c.(1921-1923)GTG>GTA	p.V641V	C11orf9_uc001nse.1_Silent_p.V632V|C11orf9_uc010rll.1_Silent_p.V32V	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	641					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTCAGGAGGTGAAGGAGATCT	0.537		NaN											0	0	0	0.004656	0	22	182				
C11orf9	745	broad.mit.edu	37	11	61545877	61545877	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545877G>A	uc001nsc.1	+	14	2025	c.1929G>A	c.(1927-1929)GAG>GAA	p.E643E	C11orf9_uc001nse.1_Silent_p.E634E|C11orf9_uc010rll.1_Silent_p.E34E	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	643					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						AGGTGAAGGAGATCTTGCCTG	0.547		NaN											0	0	0	0.007291	0	24	182				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62296070A>G	uc001ntl.2	-	5	6119	c.5819T>C	c.(5818-5820)GTG>GCG	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1940					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502		NaN											0	0	0	0.004482	0	9	314				
NXF1	10482	broad.mit.edu	37	11	62569489	62569489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62569489G>C	uc001nvf.1	-	5	619	c.483C>G	c.(481-483)TTC>TTG	p.F161L	NXF1_uc001nvg.1_Missense_Mutation_p.F161L|NXF1_uc009yog.1_Missense_Mutation_p.F204L|NXF1_uc010rmh.1_Missense_Mutation_p.F24L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	161	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						CTTCAACGAAGAACTGGGCCC	0.522		NaN											0	0	0	0.00278	0	17	105				
NXF1	10482	broad.mit.edu	37	11	62570909	62570909	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62570909C>T	uc001nvf.1	-	3	487	c.351G>A	c.(349-351)AAG>AAA	p.K117K	NXF1_uc001nvg.1_Silent_p.K117K|NXF1_uc009yog.1_Silent_p.K160K|NXF1_uc010rmh.1_Intron	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	117	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TGAACCAGTTCTTTGAGGTCC	0.473		NaN											0	0	0	0.007291	0	25	185				
STX5	6811	broad.mit.edu	37	11	62575050	62575050	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62575050G>C	uc001nvh.2	-	11	1113	c.959C>G	c.(958-960)TCA>TGA	p.S320*	NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Nonsense_Mutation_p.S224*|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Nonsense_Mutation_p.S266*|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Nonsense_Mutation_p.S135*	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	320	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2						GAGGATCTCTGAATGGGCGGC	0.507		NaN											0	0	0	0.010729	0	11	32				
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63072312G>A	uc009yor.2	+	9	1757	c.1549G>A	c.(1549-1551)GAA>AAA	p.E517K	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CCTCCTACCAGAAACCAAGAA	0.433		NaN											0	0	0	0.001855	0	12	55				
RTN3	10313	broad.mit.edu	37	11	63486675	63486675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486675C>T	uc001nxq.2	+	3	888	c.701C>T	c.(700-702)TCA>TTA	p.S234L	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.S215L|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.S122L|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	234					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						TCCAAAGTTTCAGGAGATGAT	0.373		NaN											0	0	0	0.007413	0	13	44				
RTN3	10313	broad.mit.edu	37	11	63486765	63486765	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486765C>G	uc001nxq.2	+	3	978	c.791C>G	c.(790-792)TCA>TGA	p.S264*	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S245*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S152*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	264					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						TTTAAAGACTCATATAAGGAG	0.368		NaN											0	0	0	0.006122	0	16	28				
ESRRA	2101	broad.mit.edu	37	11	64082560	64082560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64082560C>G	uc001nzq.1	+	6	1007	c.830C>G	c.(829-831)TCA>TGA	p.S277*	ESRRA_uc001nzr.1_Nonsense_Mutation_p.S276*|ESRRA_uc001nzs.1_Nonsense_Mutation_p.S277*|ESRRA_uc009ypn.1_RNA	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	277	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						GCCCAGCGCTCACTGCCACTG	0.647		NaN											0	0	0	0.006122	0	13	71				
RASGRP2	10235	broad.mit.edu	37	11	64508453	64508453	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64508453C>T	uc009ypu.2	-	5	565	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.R113Q|RASGRP2_uc009ypw.2_Missense_Mutation_p.R113Q	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	113	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						GCTGTGCCGTCGGTTCCCTTC	0.557		NaN									OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.00245	0	12	66				
PPP2R5B	5526	broad.mit.edu	37	11	64694350	64694350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64694350C>T	uc001oby.2	+	3	951	c.366C>T	c.(364-366)ATC>ATT	p.I122I	PPP2R5B_uc001obz.2_Silent_p.I122I	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	122					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GTGTCCTCATCGAGCCCGTCT	0.662		NaN											0	0	0	0.008291	0	10	76				
SNX15	29907	broad.mit.edu	37	11	64795031	64795031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64795031G>A	uc001oci.3	+	4	675	c.22G>A	c.(22-24)GAC>AAC	p.D8N	SNX15_uc009ypy.2_Missense_Mutation_p.D8N|SNX15_uc001ocj.2_Missense_Mutation_p.D8N|SNX15_uc001ock.2_Missense_Mutation_p.D8N	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A	8	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						GGCGAAGGATGACTTCCTGCG	0.692		NaN									OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006999	0	35	236				
SIPA1	6494	broad.mit.edu	37	11	65417656	65417656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:65417656G>A	uc001ofb.2	+	14	3063	c.2896G>A	c.(2896-2898)GAT>AAT	p.D966N	SIPA1_uc010rom.1_Missense_Mutation_p.D864N|SIPA1_uc001ofd.2_Missense_Mutation_p.D966N	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	966					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						TCCAAAATCTGATGCTGAGTA	0.602		NaN											0	0	0	0.007835	0	34	113				
KDM2A	22992	broad.mit.edu	37	11	67021043	67021043	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67021043C>G	uc001ojw.2	+	19	3916	c.3052C>G	c.(3052-3054)CAA>GAA	p.Q1018E	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.Q712E|KDM2A_uc001ojz.1_Missense_Mutation_p.Q476E|KDM2A_uc001oka.2_Missense_Mutation_p.Q142E	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						CAAGGACCCTCAAATTCGGGA	0.552		NaN											0	0	0	0.006122	0	17	81				
SUV420H1	51111	broad.mit.edu	37	11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925239C>G	uc001onm.1	-	11	2830	c.2574G>C	c.(2572-2574)TTG>TTC	p.L858F	SUV420H1_uc009yse.1_Missense_Mutation_p.L444F|SUV420H1_uc001onn.1_Missense_Mutation_p.L686F|SUV420H1_uc009ysf.2_Missense_Mutation_p.L618F	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	858					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CTATTAACCTCAAGCGCTTAG	0.403		NaN											0	0	0	0.001984	0	7	20				
SUV420H1	51111	broad.mit.edu	37	11	67925604	67925604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925604C>T	uc001onm.1	-	11	2465	c.2209G>A	c.(2209-2211)GGA>AGA	p.G737R	SUV420H1_uc009yse.1_Missense_Mutation_p.G323R|SUV420H1_uc001onn.1_Missense_Mutation_p.G565R|SUV420H1_uc009ysf.2_Missense_Mutation_p.G497R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GAGTTCATTCCATCATTCTCT	0.373		NaN											0	0	0	0.006122	0	17	190				
SUV420H1	51111	broad.mit.edu	37	11	67925754	67925754	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925754C>A	uc001onm.1	-	11	2315	c.2059G>T	c.(2059-2061)GAC>TAC	p.D687Y	SUV420H1_uc009yse.1_Missense_Mutation_p.D273Y|SUV420H1_uc001onn.1_Missense_Mutation_p.D515Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.D447Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CTAAAGCTGTCTTTTGTTTTG	0.443		NaN											1	0	1.02788e-11	0.00499	1.09461e-11	16	33				
MRGPRD	116512	broad.mit.edu	37	11	68748225	68748225	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:68748225G>A	uc010rqf.1	-	1	231	c.231C>T	c.(229-231)TTC>TTT	p.F77F		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	77	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGCCATGCTGAAGAGGAAGA	0.552		NaN											0	0	0	0.008361	0	24	69				
NUMA1	4926	broad.mit.edu	37	11	71725723	71725723	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71725723C>T	uc001orl.1	-	15	2998	c.2826G>A	c.(2824-2826)GCG>GCA	p.A942A	NUMA1_uc009ysw.1_Silent_p.A505A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A942A|NUMA1_uc001orn.2_Silent_p.A505A|NUMA1_uc009ysx.1_Silent_p.A942A|NUMA1_uc001oro.1_Silent_p.A942A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	942	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTCCTGCCCTCGCAGGCTCCT	0.642		NaN	T	RARA	APL								0	0	0	0.007291	0	25	95				
FOLR2	2350	broad.mit.edu	37	11	71932542	71932542	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71932542C>T	uc009ytd.2	+	5	673	c.504C>T	c.(502-504)CTC>CTT	p.L168L	FOLR2_uc009yte.2_Silent_p.L168L|FOLR2_uc001ose.3_Silent_p.L168L|FOLR2_uc009ytf.2_Silent_p.L168L	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	168					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	CTGGGGCTCTCTGCCGCACCT	0.597		NaN											0	0	0	0.00361	0	38	316				
PPME1	51400	broad.mit.edu	37	11	73882471	73882471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:73882471C>G	uc001ouw.2	+	1	104	c.5C>G	c.(4-6)TCG>TGG	p.S2W	C2CD3_uc001ouu.2_5'Flank|C2CD3_uc001ouv.2_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	2					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					CCCTCGATGTCGGCCCTCGAA	0.642		NaN											0	0	0	0.00308	0	8	35				
CHRDL2	25884	broad.mit.edu	37	11	74419417	74419417	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74419417G>C	uc001ovi.2	-	5	709	c.456C>G	c.(454-456)CTC>CTG	p.L152L	CHRDL2_uc001ovg.2_Silent_p.L36L|CHRDL2_uc001ovh.2_Silent_p.L152L|CHRDL2_uc001ovk.1_Silent_p.L152L			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	152	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					GGCAGGTTGTGAGGCCGCAGT	0.622		NaN											0	0	0	0.00308	0	5	36				
XRRA1	143570	broad.mit.edu	37	11	74651851	74651851	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74651851G>A	uc009yub.2	-	3	405	c.73C>T	c.(73-75)CTG>TTG	p.L25L	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Silent_p.L25L|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	25					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						ACGCGAAGCAGATTTCTGGCT	0.498		NaN											0	0	0	0.001168	0	4	14				
PCF11	51585	broad.mit.edu	37	11	82879595	82879595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:82879595C>T	uc001ozx.3	+	8	2563	c.2218C>T	c.(2218-2220)CAG>TAG	p.Q740*	PCF11_uc010rsu.1_Nonsense_Mutation_p.Q871*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	740	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GGATACAAATCAGCGACTTAC	0.433		NaN											0	0	0	0.00333	0	18	67				
DLG2	1740	broad.mit.edu	37	11	83195224	83195224	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:83195224G>A	uc001paj.2	-	17	2229	c.1926C>T	c.(1924-1926)TTC>TTT	p.F642F	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Silent_p.F747F|DLG2_uc010rtb.1_Silent_p.F609F|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	642						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAGAATGGGAATTTTCGTG	0.398		NaN											0	0	0	0.004482	0	4	33				
PANX1	24145	broad.mit.edu	37	11	93912933	93912933	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:93912933C>T	uc001per.2	+	4	1096	c.711C>T	c.(709-711)CTC>CTT	p.L237L	PANX1_uc001peq.2_Silent_p.L237L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	237	Helical; (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTCAGCCTCTCCTCACTCT	0.453		NaN											0	0	0	0.010729	0	12	49				
AMOTL1	154810	broad.mit.edu	37	11	94533394	94533394	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:94533394C>G	uc001pfb.2	+	3	1208	c.1038C>G	c.(1036-1038)GTC>GTG	p.V346V	AMOTL1_uc001pfc.2_Silent_p.V296V	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	346						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACGAGATGGTCAAGCCCTACC	0.567		NaN											0	0	0	0.003755	0	31	201				
KIAA1377	57562	broad.mit.edu	37	11	101828992	101828992	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:101828992G>C	uc001pgm.2	+	5	870	c.600G>C	c.(598-600)ATG>ATC	p.M200I	KIAA1377_uc001pgn.2_Missense_Mutation_p.M156I|KIAA1377_uc010run.1_Missense_Mutation_p.M1I|KIAA1377_uc009yxa.1_Missense_Mutation_p.M1I	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	200							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAAAGAAATGAATGAAAACA	0.378		NaN											0	0	0	0.004007	0	16	117				
TMEM123	114908	broad.mit.edu	37	11	102272700	102272700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102272700G>A	uc001pha.2	-	3	816	c.395C>T	c.(394-396)ACA>ATA	p.T132I	TMEM123_uc009yxc.2_Missense_Mutation_p.T113I	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	132	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TACGGTCATTGTGGATGTTGA	0.388		NaN											0	0	0	0.010504	0	16	140				
MMP20	9313	broad.mit.edu	37	11	102479695	102479695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102479695C>T	uc001phc.2	-	5	797	c.784G>A	c.(784-786)GAT>AAT	p.D262N		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	262					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCTTTCACATCATCTTTGGGG	0.468		NaN											0	0	0	0.00499	0	11	119				
CASP4	837	broad.mit.edu	37	11	104821781	104821781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:104821781G>A	uc001pid.1	-	4	490	c.417C>T	c.(415-417)CTC>CTT	p.L139L	CASP4_uc001pib.1_Silent_p.L83L|CASP4_uc009yxg.1_Silent_p.L48L|CASP4_uc010rux.1_Silent_p.L139L	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	139					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCATATGATGAGAGCCAGGC	0.453		NaN											0	0	0	0.001984	0	5	38				
VPS11	55823	broad.mit.edu	37	11	118948904	118948904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:118948904C>T	uc010ryx.1	+	12	1825	c.1783C>T	c.(1783-1785)CCC>TCC	p.P595S	VPS11_uc010ryy.1_Missense_Mutation_p.P441S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	595					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGAGTTCATCCCCATCTTTGC	0.527		NaN											0	0	0	0.00632	0	23	260				
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:119212284C>T	uc001pwj.2	-	13	1874	c.1714G>A	c.(1714-1716)GAC>AAC	p.D572N	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.D454N	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662		NaN											0	0	0	0.001368	0	9	54				
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:120996548C>A	uc010rzo.1	+	7	1741	c.1741C>A	c.(1741-1743)CCA>ACA	p.P581T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	581					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592		NaN											1	0	2.0095e-06	0.001984	2.09856e-06	6	52				
C11orf63	79864	broad.mit.edu	37	11	122805215	122805215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:122805215C>G	uc001pym.2	+	5	1363	c.1066C>G	c.(1066-1068)CAA>GAA	p.Q356E		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	356										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGACCATCAACCTTCCAG	0.448		NaN											0	0	0	0.004482	0	6	24				
ESAM	90952	broad.mit.edu	37	11	124623758	124623758	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:124623758G>A	uc001qav.3	-	7	1130	c.957C>T	c.(955-957)CTC>CTT	p.L319L	VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Silent_p.L246L|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.S318F	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	319	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGGTGGCCGGAGGGCTCGTG	0.662		NaN											0	0	0	0.00308	0	6	64				
CACNA2D4	93589	broad.mit.edu	37	12	2017150	2017150	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:2017150G>A	uc001qjp.2	-	5	771	c.540C>T	c.(538-540)TTC>TTT	p.F180F	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.F180F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	180	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGCTCCACGAAGTTGCCCT	0.627		NaN											0	0	0	0.008871	0	18	100				
TEAD4	7004	broad.mit.edu	37	12	3104006	3104006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3104006C>T	uc010sej.1	+	3	348	c.71C>T	c.(70-72)TCT>TTT	p.S24F	TEAD4_uc010sek.1_Missense_Mutation_p.S24F|TEAD4_uc001qln.2_Intron	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	25					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGCACCGCCTCTGGGGGCAGT	0.647		NaN											0	0	0	0.004289	0	27	202				
EFCAB4B	84766	broad.mit.edu	37	12	3789434	3789434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3789434G>C	uc001qmj.2	-	5	882	c.310C>G	c.(310-312)CTG>GTG	p.L104V	EFCAB4B_uc010sen.1_Missense_Mutation_p.L104V|EFCAB4B_uc010seo.1_Missense_Mutation_p.L104V	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	104	EF-hand 2.|				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGGGGTCAGATAGCCATTG	0.512		NaN											0	0	0	0.010504	0	15	97				
CHD4	1108	broad.mit.edu	37	12	6692090	6692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:6692090G>A	uc001qpo.2	-	28	4324	c.4160C>T	c.(4159-4161)CCC>CTC	p.P1387L	CHD4_uc001qpn.2_Missense_Mutation_p.P1380L|CHD4_uc001qpp.2_Missense_Mutation_p.P1412L|uc001qpq.1_Missense_Mutation_p.G98E|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1387					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTACGACTGGGCCTACGGGG	0.448		NaN											0	0	0	0.006122	0	18	89				
CD163L1	283316	broad.mit.edu	37	12	7527246	7527246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:7527246C>G	uc001qsy.2	-	13	3227	c.3201G>C	c.(3199-3201)CTG>CTC	p.L1067L	CD163L1_uc010sge.1_Silent_p.L1077L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1067	SRCR 10.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GGGCATCGCTCAGGTCCCAGC	0.622		NaN									OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	13	81				
RIMKLB	57494	broad.mit.edu	37	12	8866535	8866535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:8866535G>A	uc001quu.2	+	2	324	c.73G>A	c.(73-75)GAG>AAG	p.E25K	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E25K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E25K|RIMKLB_uc001quw.2_Missense_Mutation_p.E25K	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	25					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TCCTCAAAAAGAGATTTTACG	0.478		NaN											0	0	0	0.006214	0	7	39				
CLEC1B	51266	broad.mit.edu	37	12	10149469	10149469	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:10149469C>A	uc001qwu.2	-	4	614	c.414G>T	c.(412-414)CTG>CTT	p.L138L	CLEC1B_uc009zhd.2_Silent_p.L105L	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	138	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						TGTCAATCTTCAGGAGAGTAG	0.398		NaN											1	0	3.86212e-05	0.008291	3.98512e-05	9	74				
WBP11	51729	broad.mit.edu	37	12	14946788	14946788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:14946788G>C	uc001rci.2	-	8	951	c.790C>G	c.(790-792)CAA>GAA	p.Q264E		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	264	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						TGCTTATCTTGATCCATGTCC	0.463		NaN											0	0	0	0.00499	0	15	136				
AEBP2	121536	broad.mit.edu	37	12	19593295	19593295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:19593295C>A	uc001ref.2	+	1	688	c.662C>A	c.(661-663)TCG>TAG	p.S221*	AEBP2_uc001ree.2_Nonsense_Mutation_p.S221*|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	221	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CGCATGGACTCGGAGGACAGG	0.562		NaN											1	0	8.12818e-05	0.001984	8.37371e-05	5	68				
SLCO1B1	10599	broad.mit.edu	37	12	21392055	21392055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:21392055T>A	uc001req.3	+	15	2112	c.2008T>A	c.(2008-2010)TTA>ATA	p.L670I		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	670	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGAAGCAAACTTAGAATCCTT	0.318		NaN											0	0	0	0.009096	0	3	13				
ITPR2	3709	broad.mit.edu	37	12	26589263	26589263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:26589263G>A	uc001rhg.2	-	48	7077	c.6660C>T	c.(6658-6660)TTC>TTT	p.F2220F	ITPR2_uc009zjg.1_Silent_p.F371F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2220	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCGAGAACCAGAACAGTGCAG	0.418		NaN											0	0	0	0.000602	0	4	45				
ARNTL2	56938	broad.mit.edu	37	12	27523108	27523108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:27523108C>T	uc001rht.1	+	3	247	c.229C>T	c.(229-231)CCC>TCC	p.P77S	ARNTL2_uc001rhw.2_Intron|ARNTL2_uc010sjp.1_Intron|ARNTL2_uc001rhu.1_Missense_Mutation_p.P77S|ARNTL2_uc009zji.1_Intron|ARNTL2_uc001rhv.1_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	77					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTCTCAGAATCCCCTTACCTA	0.483		NaN											0	0	0	0.007413	0	14	91				
BICD1	636	broad.mit.edu	37	12	32480797	32480797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:32480797G>C	uc001rku.2	+	5	1489	c.1408G>C	c.(1408-1410)GAG>CAG	p.E470Q	BICD1_uc001rkv.2_Missense_Mutation_p.E470Q|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	470	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GACAAGCCTTGAGAAGACCAC	0.418		NaN											0	0	0	0.004672	0	3	40				
ARID2	196528	broad.mit.edu	37	12	46245498	46245498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:46245498C>G	uc001ros.1	+	15	3592	c.3592C>G	c.(3592-3594)CCA>GCA	p.P1198A	ARID2_uc001ror.2_Missense_Mutation_p.P1198A|ARID2_uc009zkg.1_Missense_Mutation_p.P654A|ARID2_uc009zkh.1_Missense_Mutation_p.P825A|ARID2_uc001rou.1_Missense_Mutation_p.P532A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1198					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTCATTGCTCCAGCAGGAAT	0.498		NaN											0	0	0	0.000602	0	5	51		Valid		
H1FNT	341567	broad.mit.edu	37	12	48723735	48723735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:48723735G>A	uc001rrm.2	+	1	973	c.661G>A	c.(661-663)GTG>ATG	p.V221M		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	221					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						AGGACAGGCCGTGAAGGAAGA	0.662		NaN											0	0	0	0.009096	0	4	16				
TUBA1A	7846	broad.mit.edu	37	12	49579554	49579554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49579554C>T	uc009zlf.2	-	4	867	c.595G>A	c.(595-597)GAT>AAT	p.D199N	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.D199N|TUBA1A_uc001rtq.2_Missense_Mutation_p.D46N|TUBA1A_uc001rtr.2_Missense_Mutation_p.D46N|TUBA1A_uc009zlg.2_Missense_Mutation_p.D46N	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	199					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						AAGGCACAATCAGAGTGCTCC	0.498		NaN											0	0	0	0.001855	0	12	103				
KCNH3	23416	broad.mit.edu	37	12	49934725	49934725	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49934725C>T	uc001ruh.1	+	2	380	c.120C>T	c.(118-120)TTC>TTT	p.F40F	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	40	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CGGGGCTCTTCCCCGTGGTCT	0.632		NaN											0	0	0	0.001368	0	9	72				
KCNH3	23416	broad.mit.edu	37	12	49935417	49935417	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49935417C>A	uc001ruh.1	+	3	575	c.315C>A	c.(313-315)CTC>CTA	p.L105L	KCNH3_uc010smj.1_Silent_p.L45L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	105	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GCCCAGGGCTCCCGTTCTGGT	0.547		NaN											1	0	2.35188e-11	0.006122	2.50044e-11	16	151				
LIMA1	51474	broad.mit.edu	37	12	50616148	50616148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:50616148C>A	uc001rwj.3	-	4	460	c.286G>T	c.(286-288)GAG>TAG	p.E96*	LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Nonsense_Mutation_p.E96*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	96					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						TGCCTAATCTCAGTGCTGCTG	0.527		NaN											1	0	4.96729e-08	0.008871	5.21686e-08	16	173				
KRT6B	3854	broad.mit.edu	37	12	52845454	52845454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52845454C>G	uc001sak.2	-	1	457	c.409G>C	c.(409-411)GAG>CAG	p.E137Q		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	137	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACAGTGACCTCTTGGATGCCT	0.642		NaN											0	0	0	0.003163	0	12	176				
KRT6A	3853	broad.mit.edu	37	12	52886480	52886480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52886480C>T	uc001sam.2	-	1	702	c.493G>A	c.(493-495)GAA>AAA	p.E165K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	165	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATCTGTTCACGCTCCTCA	0.592		NaN											0	0	0	0.00361	0	41	290				
RARG	5916	broad.mit.edu	37	12	53607028	53607028	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53607028C>T	uc001sce.2	-	9	1504	c.1019_splice	c.e9-1	p.D340_splice	RARG_uc001scd.2_Splice_Site_p.D329_splice|RARG_uc010sob.1_Splice_Site_p.D318_splice|RARG_uc001scf.2_Splice_Site_p.D340_splice|RARG_uc001scg.2_Splice_Site_p.D268_splice|RARG_uc010soc.1_Splice_Site_p.D219_splice|RARG_uc010sod.1_3'UTR	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1						canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCATGCGGTCTATGGGGACA	0.607		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	7	64				
TARBP2	6895	broad.mit.edu	37	12	53897505	53897505	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53897505C>T	uc001sdo.2	+	4	823	c.335C>T	c.(334-336)TCT>TTT	p.S112F	TARBP2_uc009znb.2_Missense_Mutation_p.S112F|TARBP2_uc001sdp.2_Missense_Mutation_p.S91F|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_Intron|TARBP2_uc001sds.2_Missense_Mutation_p.S112F|TARBP2_uc001sdt.2_Missense_Mutation_p.S91F|TARBP2_uc001sdu.2_Intron|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	112					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						AGTTCTTTTTCTCCCCTAGAC	0.562		NaN											0	0	0	0.001368	0	10	106				
NPFF	8620	broad.mit.edu	37	12	53900643	53900643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53900643C>T	uc001sdw.1	-	3	423	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	87					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0						CTCAGCCATTCATTCCTCCAG	0.552		NaN											0	0	0	0.005524	0	31	195				
ITGA5	3678	broad.mit.edu	37	12	54795249	54795249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:54795249C>T	uc001sga.2	-	24	2469	c.2401G>A	c.(2401-2403)GAG>AAG	p.E801K		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	801	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						AGCACTGCCTCAGGCTTGGAG	0.567		NaN											0	0	0	0.00632	0	27	183				
OR6C3	254786	broad.mit.edu	37	12	55726281	55726281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:55726281C>T	uc010spj.1	+	1	797	c.797C>T	c.(796-798)TCA>TTA	p.S266L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GAAAAGGCATCATTGACAAAA	0.383		NaN											0	0	0	0.009096	0	4	34				
COQ10A	93058	broad.mit.edu	37	12	56663988	56663988	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56663988G>C	uc001sko.3	+	5	892	c.631G>C	c.(631-633)GAT>CAT	p.D211H	COQ10A_uc001skp.3_Missense_Mutation_p.D179H|COQ10A_uc001skq.3_Missense_Mutation_p.D194H	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A isoform a	211						mitochondrial inner membrane				ovary(1)	1						CATGTTTTTTGATGAGGTTGT	0.493		NaN											0	0	0	0.003271	0	27	204				
TIMELESS	8914	broad.mit.edu	37	12	56816720	56816720	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56816720G>C	uc001slf.2	-	19	2517	c.2349C>G	c.(2347-2349)GTC>GTG	p.V783V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	783					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CTTTTTGGTTGACTGCAGCCA	0.493		NaN											0	0	0	0.00308	0	6	85				
TIMELESS	8914	broad.mit.edu	37	12	56817142	56817142	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817142G>C	uc001slf.2	-	18	2376	c.2208C>G	c.(2206-2208)CTC>CTG	p.L736L		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	736					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CTTCCATTTTGAGGTCATGGG	0.507		NaN											0	0	0	0.001984	0	6	109				
TIMELESS	8914	broad.mit.edu	37	12	56817207	56817207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817207G>C	uc001slf.2	-	18	2311	c.2143C>G	c.(2143-2145)CAG>GAG	p.Q715E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	715					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CTATTCTGCTGGTAGCTCCTT	0.488		NaN											0	0	0	0.000602	0	5	103				
TIMELESS	8914	broad.mit.edu	37	12	56827390	56827390	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56827390G>A	uc001slf.2	-	4	466	c.298C>T	c.(298-300)CTG>TTG	p.L100L	TIMELESS_uc001slg.2_Silent_p.L100L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	100					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TCCTTAGGCAGATTGCCAAAA	0.483		NaN											0	0	0	0.00245	0	14	80				
STAT6	6778	broad.mit.edu	37	12	57501056	57501056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57501056G>C	uc009zpe.2	-	4	548	c.297C>G	c.(295-297)TTC>TTG	p.F99L	STAT6_uc009zpf.2_Missense_Mutation_p.F99L|STAT6_uc001sna.2_Missense_Mutation_p.F99L|STAT6_uc010srb.1_5'UTR|STAT6_uc010src.1_5'UTR|STAT6_uc010srd.1_5'UTR|STAT6_uc009zpg.2_Missense_Mutation_p.F148L	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	99					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						GTATTTGTCTGAAAGTGGCCA	0.478		NaN											0	0	0	0.00499	0	14	107				
LRP1	4035	broad.mit.edu	37	12	57586683	57586683	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57586683C>T	uc001snd.2	+	45	7951	c.7485C>T	c.(7483-7485)CTC>CTT	p.L2495L	MIR1228_hsa-mir-1228|MI0006318_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2495	EGF-like 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTCTGCTCACTCACCAGG	0.647		NaN											0	0	0	0.00874	0	40	323				
R3HDM2	22864	broad.mit.edu	37	12	57677750	57677750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57677750C>T	uc009zpm.1	-	11	1021	c.986G>A	c.(985-987)AGC>AAC	p.S329N	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_5'UTR|R3HDM2_uc001snr.2_Missense_Mutation_p.S56N|R3HDM2_uc001sns.2_Missense_Mutation_p.S329N|R3HDM2_uc001snt.2_Missense_Mutation_p.S343N	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	329	Ser-rich.					nucleus	nucleic acid binding			ovary(2)	2						GTCTGTGCTGCTCCAAGGGCG	0.597		NaN											0	0	0	0.004482	0	9	47				
GLI1	2735	broad.mit.edu	37	12	57865639	57865639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57865639C>T	uc001snx.2	+	12	3194	c.3116C>T	c.(3115-3117)TCT>TTT	p.S1039F	GLI1_uc009zpq.2_Missense_Mutation_p.S911F	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	1039	Asp/Glu-rich (acidic).				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCCTGGACTCTCTTGATCTT	0.592		NaN											0	0	0	0.00361	0	42	251				
GEFT	115557	broad.mit.edu	37	12	58010154	58010154	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:58010154G>T	uc001spb.2	+	14	1968	c.1508G>T	c.(1507-1509)GGA>GTA	p.G503V	GEFT_uc009zpy.2_Missense_Mutation_p.G542V|GEFT_uc001spa.2_Missense_Mutation_p.G397V|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.G208V	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	503					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GGGAGCCCTGGAAGAATTCAG	0.607		NaN											1	0	4.75885e-15	0.00499	5.1013e-15	17	77				
XPOT	11260	broad.mit.edu	37	12	64812872	64812872	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64812872G>C	uc001ssb.2	+	6	913	c.487G>C	c.(487-489)GAG>CAG	p.E163Q	XPOT_uc009zqm.1_Missense_Mutation_p.E73Q	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	163	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		GCATACATCAGAGGCAAGTAA	0.393		NaN											0	0	0	0.001368	0	11	91				
XPOT	11260	broad.mit.edu	37	12	64833030	64833030	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64833030G>A	uc001ssb.2	+	23	3166	c.2740G>A	c.(2740-2742)GAA>AAA	p.E914K		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	914	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGGCCCAGAATGTGTTCA	0.323		NaN											0	0	0	0.008291	0	7	59				
HELB	92797	broad.mit.edu	37	12	66703693	66703693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:66703693C>T	uc001sti.2	+	4	1013	c.985C>T	c.(985-987)CAT>TAT	p.H329Y	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	329					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TATGTCATTTCATGCTGCTTC	0.383		NaN											0	0	0	0.008291	0	10	69				
NAV3	89795	broad.mit.edu	37	12	78513293	78513293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:78513293C>T	uc001syp.2	+	15	3490	c.3317C>T	c.(3316-3318)TCA>TTA	p.S1106L	NAV3_uc001syo.2_Missense_Mutation_p.S1106L|NAV3_uc010sub.1_Missense_Mutation_p.S606L|NAV3_uc009zsf.2_Missense_Mutation_p.S114L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGCGGGAAGTCAAATGCAGGG	0.483		NaN								HNSCC(70;0.22)			0	0	0	0.003163	0	13	67				
ACSS3	79611	broad.mit.edu	37	12	81472105	81472105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:81472105C>A	uc001szl.1	+	1	297	c.206C>A	c.(205-207)TCG>TAG	p.S69*	ACSS3_uc001szm.1_Nonsense_Mutation_p.S69*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	69						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TTCGCAGCCTCGGTGACCGAC	0.657		NaN											1	0	0.000442599	0.006214	0.000454164	9	90				
MYBPC1	4604	broad.mit.edu	37	12	102057224	102057224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:102057224C>T	uc001tii.2	+	20	2269	c.2167C>T	c.(2167-2169)CTT>TTT	p.L723F	MYBPC1_uc001tig.2_Missense_Mutation_p.L748F|MYBPC1_uc010svq.1_Missense_Mutation_p.L710F|MYBPC1_uc001tih.2_Missense_Mutation_p.L748F|MYBPC1_uc001tij.2_Missense_Mutation_p.L723F|MYBPC1_uc010svr.1_Missense_Mutation_p.L723F|MYBPC1_uc010svs.1_Missense_Mutation_p.L723F|MYBPC1_uc010svt.1_Missense_Mutation_p.L711F|MYBPC1_uc010svu.1_Missense_Mutation_p.L704F|MYBPC1_uc001tik.2_Missense_Mutation_p.L697F|MYBPC1_uc001til.2_5'Flank|MYBPC1_uc001tim.2_5'Flank	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	723	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CCCTCCTACTCTTCTGACTGT	0.458		NaN											0	0	0	0.004007	0	14	96				
SART3	9733	broad.mit.edu	37	12	108954849	108954849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:108954849C>T	uc001tmz.1	-	1	317	c.82G>A	c.(82-84)GAG>AAG	p.E28K	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.E28K|SART3_uc010swz.1_Missense_Mutation_p.E28K|SART3_uc001tna.1_RNA|SART3_uc001tnb.2_Missense_Mutation_p.E28K|ISCU_uc010sxa.1_5'Flank|ISCU_uc010sxb.1_5'Flank|ISCU_uc001tnc.3_5'Flank|ISCU_uc010sxc.1_5'Flank|ISCU_uc009zuy.2_5'Flank|ISCU_uc010sxd.1_5'Flank	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	28	Potential.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GCCTTAACCTCATCCTCCTCT	0.612		NaN							Porokeratosis				0	0	0	0.00499	0	13	103				
CUX2	23316	broad.mit.edu	37	12	111758298	111758298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111758298G>A	uc001tsa.1	+	17	2638	c.2485G>A	c.(2485-2487)GAG>AAG	p.E829K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	829						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCGCGGGGACGAGGCCCCTGT	0.771		NaN											0	0	0	0.000602	0	4	19				
ATXN2	6311	broad.mit.edu	37	12	111957800	111957800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111957800G>C	uc001tsj.2	-	8	1511	c.1349C>G	c.(1348-1350)TCA>TGA	p.S450*	ATXN2_uc001tsh.2_Nonsense_Mutation_p.S185*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.S161*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Nonsense_Mutation_p.S185*	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	450					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CTGGGCACTTGACTCAATTTC	0.428		NaN											0	0	0	0.009096	0	4	45				
C12orf51	283450	broad.mit.edu	37	12	112707527	112707527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:112707527C>T	uc009zwc.2	-	6	1024	c.1006G>A	c.(1006-1008)GAA>AAA	p.E336K	C12orf51_uc010syk.1_Missense_Mutation_p.E159K|C12orf51_uc001tts.2_Missense_Mutation_p.E159K|C12orf51_uc001ttt.3_Missense_Mutation_p.E159K	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AGGCAGACTTCCTTCTGAATT	0.423		NaN											0	0	0	0.009096	0	3	19				
TBX3	6926	broad.mit.edu	37	12	115112445	115112445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:115112445G>A	uc001tvt.1	-	7	2259	c.1295C>T	c.(1294-1296)TCG>TTG	p.S432L	TBX3_uc001tvu.1_Missense_Mutation_p.S412L	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	432					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGAGTCGGGCGACGCTTTGTC	0.731		NaN											0	0	0	0.006214	0	8	28				
PRKAB1	5564	broad.mit.edu	37	12	120118103	120118103	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120118103C>T	uc009zwu.2	+	8	889	c.786C>T	c.(784-786)GTC>GTT	p.V262V	PRKAB1_uc001txg.2_Silent_p.V262V	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	262					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGAAGTACGTCACCACCTTGT	0.527		NaN											0	0	0	0.00308	0	6	45				
CIT	11113	broad.mit.edu	37	12	120220372	120220372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120220372G>A	uc001txi.1	-	13	1668	c.1615C>T	c.(1615-1617)CTC>TTC	p.L539F	CIT_uc001txh.1_Missense_Mutation_p.L73F|CIT_uc001txj.1_Missense_Mutation_p.L539F	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	539	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATATCATGGAGAAGCTGCAGT	0.512		NaN											0	0	0	0.004482	0	7	64				
GCN1L1	10985	broad.mit.edu	37	12	120592798	120592798	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120592798G>C	uc001txo.2	-	31	3690	c.3677C>G	c.(3676-3678)TCT>TGT	p.S1226C		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1226					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTGGAGGAGATTCTGAAAT	0.532		NaN											0	0	0	0.001855	0	13	103				
DENR	8562	broad.mit.edu	37	12	123253411	123253411	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123253411C>T	uc001uda.2	+	7	631	c.495C>T	c.(493-495)ATC>ATT	p.I165I	DENR_uc010tag.1_Intron|DENR_uc001udb.2_Silent_p.I119I	NM_003677	NP_003668	O43583	DENR_HUMAN	density-regulated protein	165	SUI1.						protein binding|translation initiation factor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		ATGAAATTATCATTCAGGGAG	0.343		NaN											0	0	0	0.009096	0	3	15				
MPHOSPH9	10198	broad.mit.edu	37	12	123665727	123665727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123665727C>G	uc001uel.2	-	10	1923	c.1816G>C	c.(1816-1818)GAA>CAA	p.E606Q	MPHOSPH9_uc010tal.1_Missense_Mutation_p.E60Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E60Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	606	Potential.				M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCCTGTGTTCTTTTCCAAGG	0.219		NaN											0	0	0	0.001984	0	5	54				
TCTN2	79867	broad.mit.edu	37	12	124158295	124158295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124158295C>T	uc001ufp.2	+	4	529	c.401C>T	c.(400-402)TCA>TTA	p.S134L	TCTN2_uc009zya.2_Missense_Mutation_p.S133L	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	134	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCATCCTGTTCAGCACATCTA	0.448		NaN											0	0	0	0.009718	0	34	159				
DNAH10	196385	broad.mit.edu	37	12	124409711	124409711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124409711C>T	uc001uft.3	+	67	11552	c.11527C>T	c.(11527-11529)CGG>TGG	p.R3843W	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3843					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCGGGTCTATCGGGCCGTGAC	0.498		NaN											0	0	0	0.00499	0	14	102				
GPR133	283383	broad.mit.edu	37	12	131471689	131471689	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:131471689G>A	uc001uit.3	+	6	1099	c.540G>A	c.(538-540)CTG>CTA	p.L180L	GPR133_uc010tbm.1_Silent_p.L212L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	180	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGAGGGCCTGAAAGTCTACG	0.517		NaN											0	0	0	0.008291	0	9	63				
ANKLE2	23141	broad.mit.edu	37	12	133327436	133327436	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:133327436C>G	uc001ukx.2	-	3	708	c.641_splice	c.e3-1	p.E214_splice	ANKLE2_uc001uky.3_Splice_Site_p.E152_splice	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2							cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAGATCCTTTCTGGGTAAGAA	0.433		NaN											0	0	0	0.000602	0	4	28				
SAP18	10284	broad.mit.edu	37	13	21721357	21721357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:21721357G>C	uc001uns.2	+	4	434	c.395G>C	c.(394-396)AGA>ACA	p.R132T		NM_005870	NP_005861	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	113					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity				0		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATGTCTGGCAGAAAGGGGACT	0.443		NaN											0	0	0	0.007413	0	15	101				
PARP4	143	broad.mit.edu	37	13	25067846	25067846	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25067846G>C	uc001upl.2	-	8	873	c.767C>G	c.(766-768)TCA>TGA	p.S256*	PARP4_uc010tdc.1_Nonsense_Mutation_p.S256*	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	256	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGTGCTTGAATTCATGAC	0.438		NaN											0	0	0	0.004007	0	13	37				
PARP4	143	broad.mit.edu	37	13	25077788	25077788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25077788G>C	uc001upl.2	-	2	233	c.127C>G	c.(127-129)CCT>GCT	p.P43A	PARP4_uc010tdc.1_Missense_Mutation_p.P43A	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	43	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATACCTGAGGATTTAACGAA	0.398		NaN											0	0	0	0.008291	0	7	65				
WASF3	10810	broad.mit.edu	37	13	27239225	27239225	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:27239225G>A	uc001uqv.2	+	4	419	c.194G>A	c.(193-195)AGA>AAA	p.R65K	WASF3_uc001uqw.2_Missense_Mutation_p.R65K	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	65	Potential.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCTACATCAGAGCAAATTCT	0.423		NaN											0	0	0	0.008291	0	10	65				
LNX2	222484	broad.mit.edu	37	13	28141891	28141891	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:28141891G>A	uc001url.3	-	4	1050	c.741C>T	c.(739-741)ATC>ATT	p.I247I	LNX2_uc001urm.1_Silent_p.I247I	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	247	PDZ 1.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCACAATGCTGATTCCTAACT	0.458		NaN											0	0	0	0.001168	0	6	53				
USPL1	10208	broad.mit.edu	37	13	31233420	31233420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:31233420C>T	uc001utc.2	+	9	3638	c.3206C>T	c.(3205-3207)TCA>TTA	p.S1069L	USPL1_uc001utd.2_Missense_Mutation_p.S740L|USPL1_uc001ute.1_Missense_Mutation_p.S740L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1069					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTTTCCTCCTCAGCATTAAAT	0.343		NaN											0	0	0	0.000602	0	5	39				
FRY	10129	broad.mit.edu	37	13	32709061	32709061	+	Silent	SNP	C	C	T	rs34037604		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32709061C>T	uc001utx.2	+	9	1402	c.906C>T	c.(904-906)CTC>CTT	p.L302L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACTTCCTCGAGGTCAAAG	0.388		NaN											0	0	0	0.003271	0	22	126				
FRY	10129	broad.mit.edu	37	13	32721489	32721489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32721489G>A	uc001utx.2	+	12	1746	c.1250G>A	c.(1249-1251)CGA>CAA	p.R417Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACATGATTCGAATTAAATGT	0.398		NaN											0	0	0	0.004672	0	3	27				
N4BP2L2	10443	broad.mit.edu	37	13	33017213	33017213	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33017213C>T	uc010abe.1	-	7	1483	c.1461G>A	c.(1459-1461)AGG>AGA	p.R487R	N4BP2L2_uc001uug.2_Silent_p.R370R|N4BP2L2_uc010abd.1_Silent_p.R400R|N4BP2L2_uc001uuh.2_Silent_p.R318R|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.R472R	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	140											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTTCTTCCTCCTTTTCTTAT	0.343		NaN											0	0	0	0.001168	0	4	15				
STARD13	90627	broad.mit.edu	37	13	33700224	33700224	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33700224G>C	uc001uuw.2	-	7	2202	c.2076C>G	c.(2074-2076)CTC>CTG	p.L692L	STARD13_uc001uuu.2_Silent_p.L684L|STARD13_uc001uuv.2_Silent_p.L574L|STARD13_uc001uux.2_Silent_p.L657L|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	692	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTGATCGAGGCAGTTGC	0.552		NaN											0	0	0	0.006122	0	15	107				
FREM2	341640	broad.mit.edu	37	13	39433625	39433625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:39433625C>T	uc001uwv.2	+	14	7726	c.7417C>T	c.(7417-7419)CAG>TAG	p.Q2473*	FREM2_uc001uww.2_Nonsense_Mutation_p.Q559*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2473	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATATACTTTCAGCCTGGCTC	0.542		NaN											0	0	0	0.003163	0	13	80				
KBTBD7	84078	broad.mit.edu	37	13	41767323	41767323	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:41767323G>C	uc001uxw.1	-	1	1380	c.1071C>G	c.(1069-1071)CTC>CTG	p.L357L	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	357							protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGTCATAGCAGAGAAAGGGAT	0.493		NaN											0	0	0	0.004482	0	3	38				
TSC22D1	8848	broad.mit.edu	37	13	45148962	45148962	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45148962C>G	uc001uzn.3	-	1	1740	c.1249G>C	c.(1249-1251)GAG>CAG	p.E417Q	TSC22D1_uc001uzo.1_Missense_Mutation_p.E417Q	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	417					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTAAAGGGCTCAGAACTAGAA	0.438		NaN											0	0	0	0.00245	0	13	67				
KIAA1704	55425	broad.mit.edu	37	13	45589108	45589108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45589108G>C	uc001uzq.2	+	5	533	c.430G>C	c.(430-432)GAG>CAG	p.E144Q	KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.E144Q|KIAA1704_uc001uzs.2_Missense_Mutation_p.E21Q|KIAA1704_uc001uzt.2_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	144										pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		CAGTGAAGATGAGGATATTAT	0.348		NaN											0	0	0	0.001855	0	10	48				
C13orf18	80183	broad.mit.edu	37	13	46942258	46942258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:46942258G>A	uc010acl.2	-	5	1350	c.745C>T	c.(745-747)CAG>TAG	p.Q249*	C13orf18_uc001vbf.3_Nonsense_Mutation_p.Q182*|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Nonsense_Mutation_p.Q92*|C13orf18_uc010acm.2_Nonsense_Mutation_p.Q114*|C13orf18_uc010acn.2_Nonsense_Mutation_p.Q34*|C13orf18_uc001vbe.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbh.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbi.3_Nonsense_Mutation_p.Q92*|C13orf18_uc010aco.1_Nonsense_Mutation_p.Q249*	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	249											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		GAGTCAGGCTGATCACTCCCA	0.408		NaN											0	0	0	0.010504	0	16	83				
LRCH1	23143	broad.mit.edu	37	13	47263286	47263286	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263286G>C	uc001vbj.2	+	7	1205	c.969G>C	c.(967-969)TCG>TCC	p.S323S	LRCH1_uc010acp.2_Silent_p.S323S|LRCH1_uc001vbk.2_Silent_p.S323S|LRCH1_uc001vbl.3_Silent_p.S323S	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	323										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTCTGATTCGGGAGTTGGAA	0.343		NaN											0	0	0	0.013114	0	34	102				
LRCH1	23143	broad.mit.edu	37	13	47263293	47263293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263293G>A	uc001vbj.2	+	7	1212	c.976G>A	c.(976-978)GGA>AGA	p.G326R	LRCH1_uc010acp.2_Missense_Mutation_p.G326R|LRCH1_uc001vbk.2_Missense_Mutation_p.G326R|LRCH1_uc001vbl.3_Missense_Mutation_p.G326R	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	326										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCGGGAGTTGGAAGTGATAA	0.353		NaN											0	0	0	0.00361	0	32	109				
PHF11	51131	broad.mit.edu	37	13	50080827	50080827	+	Missense_Mutation	SNP	G	G	A	rs73188692	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:50080827G>A	uc001vdb.2	+	2	488	c.151G>A	c.(151-153)GAT>AAT	p.D51N	PHF11_uc010tgl.1_Missense_Mutation_p.D51N|PHF11_uc001vdc.2_Missense_Mutation_p.D12N|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTGCCCCAAAGATGTCGAATA	0.363		NaN											0	0	0	0.008291	0	8	48				
TBC1D4	9882	broad.mit.edu	37	13	75861065	75861065	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:75861065C>G	uc001vjl.1	-	21	4107	c.3760G>C	c.(3760-3762)GAA>CAA	p.E1254Q	TBC1D4_uc010tht.1_Missense_Mutation_p.E464Q|TBC1D4_uc010thu.1_Missense_Mutation_p.E411Q|TBC1D4_uc010aer.2_Missense_Mutation_p.E1246Q|TBC1D4_uc010aes.2_Missense_Mutation_p.E1191Q	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1254						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCCATTTTTTCTTGTTCCAGG	0.453		NaN											0	0	0	0.001168	0	4	40				
RBM26	64062	broad.mit.edu	37	13	79942973	79942973	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79942973G>T	uc001vkz.2	-	6	801	c.787C>A	c.(787-789)CAT>AAT	p.H263N	RBM26_uc001vky.2_Missense_Mutation_p.H263N|RBM26_uc001vla.2_Missense_Mutation_p.H263N|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	263					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGTTTCCATGATGAGTAGGA	0.418		NaN											1	0	2.17888e-05	0.006214	2.25545e-05	7	74				
RBM26	64062	broad.mit.edu	37	13	79943032	79943032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79943032G>C	uc001vkz.2	-	6	742	c.728C>G	c.(727-729)TCT>TGT	p.S243C	RBM26_uc001vky.2_Missense_Mutation_p.S243C|RBM26_uc001vla.2_Missense_Mutation_p.S243C|RBM26_uc001vkx.2_Translation_Start_Site|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	243					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAGTGGCCAGATGAAATACT	0.393		NaN											0	0	0	0.010729	0	8	80				
SLITRK5	26050	broad.mit.edu	37	13	88328435	88328435	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:88328435T>A	uc001vln.2	+	2	1011	c.792T>A	c.(790-792)TGT>TGA	p.C264*	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	264	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGTAGTTTGTGAGACCCCCT	0.507		NaN											0	0	0	0.006214	0	6	123				
C13orf39	196541	broad.mit.edu	37	13	103343304	103343304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:103343304C>G	uc001vpj.2	-	2	147	c.141G>C	c.(139-141)AAG>AAC	p.K47N	C13orf39_uc001vpk.2_Missense_Mutation_p.K47N	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	47							methyltransferase activity				0						ATGGTTCTATCTTGTTGGATT	0.393		NaN											0	0	0	0.008291	0	9	68				
MYO16	23026	broad.mit.edu	37	13	109535458	109535458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:109535458C>G	uc001vqt.1	+	13	1537	c.1411C>G	c.(1411-1413)CCT>GCT	p.P471A	MYO16_uc010agk.1_Missense_Mutation_p.P493A|MYO16_uc001vqu.1_Missense_Mutation_p.P271A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	471	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGCTGCCTCCTCACCTCTT	0.562		NaN											0	0	0	0.002299	0	19	177				
COL4A2	1284	broad.mit.edu	37	13	110960258	110960258	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:110960258G>A	uc001vqx.2	+	2	297	c.8G>A	c.(7-9)AGA>AAA	p.R3K	COL4A1_uc001vqw.3_5'Flank|COL4A1_uc010agl.2_5'Flank	NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	3					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCATGGGGAGAGACCAGCGC	0.662		NaN											0	0	0	0.00245	0	10	86				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	0.004672	0	3	20				
OR4K15	81127	broad.mit.edu	37	14	20444469	20444469	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:20444469G>A	uc010tkx.1	+	1	792	c.792G>A	c.(790-792)TTG>TTA	p.L264L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	264	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCACATTGACTGCTCACA	0.463		NaN											0	0	0	0.000602	0	4	28				
FITM1	161247	broad.mit.edu	37	14	24601689	24601689	+	Missense_Mutation	SNP	G	G	A	rs147303563		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24601689G>A	uc001wmf.2	+	2	634	c.536G>A	c.(535-537)CGA>CAA	p.R179Q		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	179	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0						CACCAGTGGCGAGGCTACACC	0.652		NaN											0	0	0	0.00499	0	14	94				
DHRS1	115817	broad.mit.edu	37	14	24768168	24768168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24768168G>A	uc001woj.1	-	2	414	c.145C>T	c.(145-147)CAG>TAG	p.Q49*	C14orf21_uc001wol.1_5'Flank|DHRS1_uc001wok.2_Nonsense_Mutation_p.Q49*	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	49						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CTCACCTCCTGAGCAACAACG	0.547		NaN											0	0	0	0.010504	0	19	94				
STXBP6	29091	broad.mit.edu	37	14	25288302	25288302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:25288302C>G	uc001wpu.2	-	5	1265	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	STXBP6_uc001wpv.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpw.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.E82Q	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	184	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		GTCTTCTCCTCTGCTCGGCCT	0.572		NaN											0	0	0	0.012319	0	17	126				
SCFD1	23256	broad.mit.edu	37	14	31177222	31177222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:31177222G>C	uc001wqm.1	+	19	1604	c.1580G>C	c.(1579-1581)GGA>GCA	p.G527A	SCFD1_uc001wqn.1_Missense_Mutation_p.G460A|SCFD1_uc010tpg.1_Missense_Mutation_p.G468A|SCFD1_uc010tph.1_Missense_Mutation_p.G342A|SCFD1_uc010amf.1_Missense_Mutation_p.G342A|SCFD1_uc010tpi.1_Missense_Mutation_p.G435A|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Missense_Mutation_p.G460A	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	527					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATGAATACAGGATCACAGTTT	0.358		NaN											0	0	0	0.010729	0	9	57				
AKAP6	9472	broad.mit.edu	37	14	33292806	33292806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:33292806G>C	uc001wrq.2	+	13	5957	c.5787G>C	c.(5785-5787)GAG>GAC	p.E1929D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1929					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATTTCAGAGAGTGAGCATT	0.373		NaN											0	0	0	0.001168	0	6	28				
FAM179B	23116	broad.mit.edu	37	14	45433339	45433339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:45433339G>A	uc001wvv.2	+	1	1924	c.1715G>A	c.(1714-1716)AGA>AAA	p.R572K	FAM179B_uc001wvw.2_Missense_Mutation_p.R572K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R572K|FAM179B_uc001wvu.2_Missense_Mutation_p.R572K	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	572							binding			skin(2)|upper_aerodigestive_tract(1)	3						GTGCAGGCCAGATTGGCTAGG	0.468		NaN											0	0	0	0.003163	0	14	118				
C14orf104	55172	broad.mit.edu	37	14	50100987	50100987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:50100987G>A	uc001wws.3	-	1	962	c.881C>T	c.(880-882)TCG>TTG	p.S294L	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.S294L	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	294					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGCTCGGCCGAGCGCAACAG	0.657		NaN							Kartagener_syndrome				0	0	0	0.006122	0	12	64				
PYGL	5836	broad.mit.edu	37	14	51411041	51411041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:51411041C>G	uc001wyu.2	-	1	208	c.81G>C	c.(79-81)GAG>GAC	p.E27D	PYGL_uc010tqq.1_Missense_Mutation_p.E27D|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.E27D	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	27					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCTTCAGCTCTGCCACGT	0.607		NaN											0	0	0	0.001368	0	10	78				
GPR137C	283554	broad.mit.edu	37	14	53020091	53020091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:53020091G>A	uc001wzu.3	+	1	226	c.226G>A	c.(226-228)GAG>AAG	p.E76K	TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Missense_Mutation_p.E76K	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	76	Cytoplasmic (Potential).					integral to membrane					0	Breast(41;0.0716)					CCTGTACCGCGAGCGGCGGCT	0.677		NaN											0	0	0	0.001168	0	3	17				
DLGAP5	9787	broad.mit.edu	37	14	55618639	55618639	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:55618639C>G	uc001xbs.2	-	17	2359	c.2142G>C	c.(2140-2142)TTG>TTC	p.L714F	DLGAP5_uc001xbt.2_Missense_Mutation_p.L714F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	714					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						AATCCACCTTCAAGTCTGTCT	0.303		NaN											0	0	0	0.00308	0	5	39				
JKAMP	51528	broad.mit.edu	37	14	59965517	59965517	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:59965517G>A	uc001xei.3	+	5	1075	c.573G>A	c.(571-573)AAG>AAA	p.K191K	JKAMP_uc001xef.3_Silent_p.K177K|JKAMP_uc001xeh.3_Silent_p.K171K|JKAMP_uc001xeg.3_Silent_p.K185K|JKAMP_uc010try.1_Silent_p.K114K|JKAMP_uc001xej.3_Silent_p.K114K	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	192	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						TTCTGGTGAAGAAGATTGCAT	0.363		NaN											0	0	0	0.001168	0	4	22				
RDH11	51109	broad.mit.edu	37	14	68159246	68159246	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:68159246C>T	uc001xjv.3	-	3	348	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	RDH11_uc001xjw.3_Silent_p.Q73Q|RDH11_uc001xjx.3_Silent_p.Q86Q	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	86	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTGTCGTGGTCTGGATCTCTT	0.488		NaN											0	0	0	0.00361	0	36	214				
HEATR4	399671	broad.mit.edu	37	14	73959790	73959790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959790C>T	uc010tua.1	-	17	3093	c.2683G>A	c.(2683-2685)GAC>AAC	p.D895N	C14orf169_uc001xok.1_3'UTR	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCTTCAGTGTCACAAACCTCG	0.398		NaN											0	0	0	0.008291	0	7	82				
HEATR4	399671	broad.mit.edu	37	14	73959826	73959826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959826C>T	uc010tua.1	-	17	3057	c.2647G>A	c.(2647-2649)GAG>AAG	p.E883K	C14orf169_uc001xok.1_3'UTR	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGAACCATCTCATCTAGGTAC	0.433		NaN											0	0	0	0.000602	0	4	52				
LTBP2	4053	broad.mit.edu	37	14	75078187	75078187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:75078187G>A	uc001xqa.2	-	1	848	c.461C>T	c.(460-462)GCG>GTG	p.A154V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	154					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTTGGGGGCGCAGCCCCAGA	0.726		NaN											0	0	0	0.001984	0	6	59				
TTLL5	23093	broad.mit.edu	37	14	76211452	76211452	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:76211452C>G	uc001xrx.2	+	16	1501	c.1296C>G	c.(1294-1296)CTC>CTG	p.L432L	TTLL5_uc010ask.1_Silent_p.L446L|TTLL5_uc001xrz.2_5'UTR|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	432					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCCGTCCACTCTCTGCCAGTG	0.458		NaN											0	0	0	0.00308	0	7	20				
C14orf148	122945	broad.mit.edu	37	14	77872309	77872309	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:77872309C>G	uc001xtr.2	-	5	999	c.852G>C	c.(850-852)TTG>TTC	p.L284F		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	284					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CTGTTAATTGCAACTTTGGGC	0.473		NaN											0	0	0	0.000602	0	3	27				
NDUFB1	4707	broad.mit.edu	37	14	92588065	92588065	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:92588065C>T	uc001yaf.2	-	1	89	c.57G>A	c.(55-57)CCG>CCA	p.P19P	NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank	NM_004545	NP_004536	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	Error:Variant_position_missing_in_O75438_after_alignment					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GCTGCGACCTCGGGACCTGCC	0.612		NaN											0	0	0	0.004007	0	13	94				
BTBD7	55727	broad.mit.edu	37	14	93730309	93730309	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:93730309G>A	uc001ybo.2	-	4	1519	c.1193C>T	c.(1192-1194)TCA>TTA	p.S398L	BTBD7_uc010aur.2_Intron|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Missense_Mutation_p.S47L|BTBD7_uc001ybq.3_Missense_Mutation_p.S313L	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	398										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGTATCTAATGAGATGCTCTC	0.388		NaN											0	0	0	0.006214	0	7	58				
KIAA1409	57578	broad.mit.edu	37	14	94088398	94088398	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94088398C>T	uc001ybv.1	+	28	4437	c.4354C>T	c.(4354-4356)CTG>TTG	p.L1452L	KIAA1409_uc001ybs.1_Silent_p.L1430L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1607						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GGATTTAGATCTGATAGATCT	0.473		NaN											0	0	0	0.00245	0	12	72				
KIAA1409	57578	broad.mit.edu	37	14	94128992	94128992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94128992C>T	uc001ybv.1	+	39	6303	c.6220C>T	c.(6220-6222)CAG>TAG	p.Q2074*	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.Q2052*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2229	Helical; (Potential).					integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTTTGTAATTCAGAATGCCGT	0.418		NaN											0	0	0	0.001168	0	5	29				
HSP90AA1	3320	broad.mit.edu	37	14	102552649	102552649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:102552649G>A	uc001yku.3	-	2	257	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.Q145*|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.Q12*	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	23					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ATTTCTGCCTGAAAGGCGAAC	0.468		NaN											0	0	0	0.00245	0	10	91				
KLC1	3831	broad.mit.edu	37	14	104121117	104121117	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:104121117C>T	uc001yno.2	+	2	524	c.216C>T	c.(214-216)ATC>ATT	p.I72I	KLC1_uc010tyd.1_Silent_p.I231I|KLC1_uc010tye.1_Silent_p.I68I|KLC1_uc001ynm.1_Silent_p.I72I|KLC1_uc001ynn.1_Silent_p.I68I|KLC1_uc010tyf.1_Silent_p.I72I	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	72					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAAACATGATCCGGAAGTCAC	0.423		NaN											0	0	0	0.008291	0	9	61				
KIAA0284	283638	broad.mit.edu	37	14	105354098	105354098	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105354098G>A	uc010axb.2	+	12	3746	c.3522G>A	c.(3520-3522)CGG>CGA	p.R1174R	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1104R|KIAA0284_uc001yps.2_Silent_p.R1080R|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1174						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCATGCCCCGGAAGCGGGCCG	0.692		NaN											0	0	0	0.001168	0	5	12				
AHNAK2	113146	broad.mit.edu	37	14	105405994	105405994	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105405994G>A	uc010axc.1	-	7	15914	c.15794C>T	c.(15793-15795)TCC>TTC	p.S5265F	AHNAK2_uc001ypx.2_Missense_Mutation_p.S5165F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5265						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATATCTGTGGATGATTTGCT	0.512		NaN											0	0	0	0.008871	0	18	114				
MKRN3	7681	broad.mit.edu	37	15	23811991	23811991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:23811991G>C	uc001ywh.3	+	1	1538	c.1062G>C	c.(1060-1062)GAG>GAC	p.E354D	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E354D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	354	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACAGTTTGAGAACAGGATCG	0.507		NaN											0	0	0	0.003163	0	15	144				
INO80	54617	broad.mit.edu	37	15	41362724	41362724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41362724C>T	uc001zni.2	-	13	1840	c.1627G>A	c.(1627-1629)GAT>AAT	p.D543N	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	543	ATP (By similarity).|Helicase ATP-binding.|Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						CCCATTTCATCAGCAAGAATG	0.408		NaN											0	0	0	0.005443	0	21	61				
OIP5	11339	broad.mit.edu	37	15	41624585	41624585	+	Missense_Mutation	SNP	C	C	T	rs148616469		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41624585C>T	uc001znp.2	-	1	235	c.175G>A	c.(175-177)GAG>AAG	p.E59K	NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	NM_007280	NP_009211	O43482	MS18B_HUMAN	Opa interacting protein 5	59					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCGGCTGGCTCCTCAGCCCCC	0.672		NaN											0	0	0	0.00632	0	21	48				
MGA	23269	broad.mit.edu	37	15	42058963	42058963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42058963G>A	uc010ucy.1	+	24	8864	c.8683G>A	c.(8683-8685)GAC>AAC	p.D2895N	MGA_uc010ucz.1_Missense_Mutation_p.D2686N	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2856						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGGGAGAGTGACTCTATCAG	0.463		NaN											0	0	0	0.00333	0	19	59				
CAPN3	825	broad.mit.edu	37	15	42691775	42691775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42691775C>T	uc001zpn.1	+	10	1585	c.1279C>T	c.(1279-1281)CAG>TAG	p.Q427*	CAPN3_uc001zpk.1_Nonsense_Mutation_p.Q200*|CAPN3_uc001zpl.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udf.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udg.1_Nonsense_Mutation_p.Q292*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.Q427*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.Q379*|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	427	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGACAAGCTTCAGACCTGGAC	0.562		NaN											0	0	0	0.001168	0	6	27				
LEO1	123169	broad.mit.edu	37	15	52258074	52258074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:52258074G>A	uc002abo.2	-	2	702	c.686C>T	c.(685-687)TCT>TTT	p.S229F	LEO1_uc010bfd.2_Missense_Mutation_p.S229F	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	229	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TTCATCATCAGAATTCTGTTT	0.423		NaN											0	0	0	0.00361	0	56	131				
RNF111	54778	broad.mit.edu	37	15	59358969	59358969	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:59358969C>G	uc002afv.2	+	6	1652	c.1373C>G	c.(1372-1374)TCA>TGA	p.S458*	RNF111_uc002afs.2_Nonsense_Mutation_p.S458*|RNF111_uc002aft.2_Nonsense_Mutation_p.S458*|RNF111_uc002afu.2_Nonsense_Mutation_p.S458*|RNF111_uc002afw.2_Nonsense_Mutation_p.S458*|RNF111_uc002afx.2_5'UTR	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	458	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CAAGATGACTCAAGGAGAACT	0.398		NaN											0	0	0	0.007291	0	23	38				
PDCD7	10081	broad.mit.edu	37	15	65426045	65426045	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:65426045G>T	uc002aol.2	-	1	130	c.75C>A	c.(73-75)TTC>TTA	p.F25L		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	25	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0						GCGGACAGCCGAAAGGAGCAG	0.726		NaN											1	0	0.000602214	0.000602	0.000616972	4	6				
C15orf27	123591	broad.mit.edu	37	15	76463343	76463343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:76463343G>A	uc002bbq.2	+	7	678	c.523G>A	c.(523-525)GGG>AGG	p.G175R	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	175	Helical; (Potential).					integral to membrane					0						GGTGTTTGACGGGGCTGTGAT	0.617		NaN											0	0	0	0.004656	0	20	19				
IREB2	3658	broad.mit.edu	37	15	78790409	78790409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:78790409C>T	uc002bdr.2	+	22	2978	c.2816C>T	c.(2815-2817)TCG>TTG	p.S939L	IREB2_uc010unb.1_Missense_Mutation_p.S689L	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	939							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGATTGCTTCGTTTGAAGAT	0.358		NaN											0	0	0	0.00499	0	15	87				
PDE8A	5151	broad.mit.edu	37	15	85619974	85619974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:85619974G>C	uc002blh.2	+	5	691	c.502G>C	c.(502-504)GAA>CAA	p.E168Q	PDE8A_uc002bli.2_Missense_Mutation_p.E168Q|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	168					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGTGGATAGAGAAGAGTTGTC	0.289		NaN											0	0	0	0.010729	0	9	103				
MFGE8	4240	broad.mit.edu	37	15	89449884	89449884	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:89449884G>A	uc002bng.3	-	4	626	c.513C>T	c.(511-513)TTC>TTT	p.F171F	MFGE8_uc002bnf.3_Silent_p.F59F|MFGE8_uc002bnh.3_Silent_p.F171F|MFGE8_uc010bnn.2_Silent_p.F163F|MFGE8_uc010upq.1_Silent_p.F127F|MFGE8_uc010upr.1_Silent_p.F171F|MFGE8_uc010bno.2_Silent_p.F127F	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	171	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)					CATCATGGATGAAATCGAATT	0.512		NaN											0	0	0	0.005443	0	23	94				
FES	2242	broad.mit.edu	37	15	91433455	91433455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:91433455G>A	uc002bpv.2	+	9	1279	c.1183G>A	c.(1183-1185)GAG>AAG	p.E395K	FES_uc010uqj.1_Missense_Mutation_p.E337K|FES_uc010uqk.1_Missense_Mutation_p.E377K|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.E337K|FES_uc002bpx.2_Missense_Mutation_p.E395K|FES_uc002bpy.2_Missense_Mutation_p.E337K	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	395					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCCCGGCGAGCCCCCGCC	0.716		NaN											0	0	0	0.003163	0	13	79				
CHD2	1106	broad.mit.edu	37	15	93486105	93486105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93486105G>C	uc002bsp.2	+	9	1434	c.859G>C	c.(859-861)GAA>CAA	p.E287Q	CHD2_uc002bsm.1_Missense_Mutation_p.E287Q|CHD2_uc002bsn.2_Missense_Mutation_p.E287Q|CHD2_uc002bso.1_Missense_Mutation_p.E287Q|CHD2_uc010urb.1_Missense_Mutation_p.E300Q|CHD2_uc010bof.1_RNA	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	287	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATATGCGATTGAAGCTAATGG	0.418		NaN											0	0	0	0.010729	0	8	58				
CHD2	1106	broad.mit.edu	37	15	93522446	93522446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93522446C>T	uc002bsp.2	+	22	3384	c.2809C>T	c.(2809-2811)CAT>TAT	p.H937Y	CHD2_uc002bso.1_Missense_Mutation_p.H937Y|CHD2_uc010bog.1_3'UTR|CHD2_uc010boh.1_Missense_Mutation_p.H131Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	937	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTATTAGATCATCTGGTGAT	0.473		NaN											0	0	0	0.00361	0	59	219				
CHD2	1106	broad.mit.edu	37	15	93527686	93527686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93527686G>C	uc002bsp.2	+	25	3768	c.3193G>C	c.(3193-3195)GAA>CAA	p.E1065Q	CHD2_uc002bso.1_Missense_Mutation_p.E1065Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1065	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGGAGCTAGAAGAAATTTA	0.408		NaN											0	0	0	0.001984	0	6	24				
MCTP2	55784	broad.mit.edu	37	15	94986184	94986184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:94986184G>C	uc002btj.2	+	18	2310	c.2245G>C	c.(2245-2247)GAC>CAC	p.D749H	MCTP2_uc010boj.2_Missense_Mutation_p.D478H|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.D337H	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	749					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGATGAAGATGACAAGGTGCG	0.383		NaN											0	0	0	0.00308	0	8	64				
LRRC28	123355	broad.mit.edu	37	15	99892583	99892583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:99892583G>A	uc002bva.1	+	7	757	c.602G>A	c.(601-603)CGA>CAA	p.R201Q	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.R47Q|LRRC28_uc010urt.1_Missense_Mutation_p.R15Q|LRRC28_uc002bvc.1_Missense_Mutation_p.R201Q|LRRC28_uc010uru.1_Missense_Mutation_p.R132Q|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	201	LRR 8.										0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GATTTAGGTCGATCTCGAGAA	0.348		NaN											0	0	0	0.003163	0	12	106				
LRRK1	79705	broad.mit.edu	37	15	101566280	101566280	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:101566280C>G	uc002bwr.2	+	17	2662	c.2343C>G	c.(2341-2343)CTC>CTG	p.L781L	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	781	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGGCACTCTGCCGCTCCC	0.597		NaN											0	0	0	0.009535	0	25	129				
RAB40C	57799	broad.mit.edu	37	16	676021	676021	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:676021C>T	uc002chr.2	+	5	581	c.465C>T	c.(463-465)GTC>GTT	p.V155V	RAB40C_uc002chq.2_Silent_p.V136V	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	155					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TCTTTGAGGTCAGCCCCCTGT	0.607		NaN											0	0	0	0.00333	0	21	142				
PTX4	390667	broad.mit.edu	37	16	1536456	1536456	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1536456G>A	uc010uvf.1	-	3	906	c.906C>T	c.(904-906)TCC>TCT	p.S302S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	307	Pentaxin.					extracellular region	metal ion binding				0						CCAGGCGGCCGGAGGCCGTGC	0.647		NaN											0	0	0	0.008871	0	17	62				
IFT140	9742	broad.mit.edu	37	16	1575300	1575300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1575300G>A	uc002cmb.2	-	22	3158	c.2796C>T	c.(2794-2796)TTC>TTT	p.F932F	IFT140_uc002clz.2_Silent_p.F545F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	932	TPR 3.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				TGGGCACCTCGAAGCGGTGCG	0.627		NaN											0	0	0	0.00333	0	18	135				
AMDHD2	51005	broad.mit.edu	37	16	2578543	2578543	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2578543T>C	uc002cqq.2	+	8	1050	c.953T>C	c.(952-954)CTG>CCG	p.L318P	AMDHD2_uc002cqp.2_Missense_Mutation_p.L318P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L318P|AMDHD2_uc010uwd.1_Missense_Mutation_p.L82P	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	318					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						GTGGACGGTCTGACGGCCTAC	0.701		NaN											0	0	0	0.000602	0	5	65				
SRRM2	23524	broad.mit.edu	37	16	2811715	2811715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2811715G>A	uc002crk.2	+	11	1735	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	SRRM2_uc002crj.1_Missense_Mutation_p.E300K|SRRM2_uc002crl.1_Missense_Mutation_p.E396K|SRRM2_uc010bsu.1_Missense_Mutation_p.E300K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	396	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCCCCATCTGAGGCCTCTCC	0.607		NaN											0	0	0	0.00632	0	21	142				
SRRM2	23524	broad.mit.edu	37	16	2812166	2812166	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812166G>C	uc002crk.2	+	11	2186	c.1637G>C	c.(1636-1638)AGA>ACA	p.R546T	SRRM2_uc002crj.1_Missense_Mutation_p.R450T|SRRM2_uc002crl.1_Missense_Mutation_p.R546T|SRRM2_uc010bsu.1_Missense_Mutation_p.R450T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	546	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCTAGGAGCAGAAATACCCAG	0.597		NaN											0	0	0	0.001168	0	4	31				
SRRM2	23524	broad.mit.edu	37	16	2812176	2812176	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812176G>A	uc002crk.2	+	11	2196	c.1647G>A	c.(1645-1647)CAG>CAA	p.Q549Q	SRRM2_uc002crj.1_Silent_p.Q453Q|SRRM2_uc002crl.1_Silent_p.Q549Q|SRRM2_uc010bsu.1_Silent_p.Q453Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	549	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAAATACCCAGAGAAGAGGCA	0.612		NaN											0	0	0	0.001984	0	5	31				
SRRM2	23524	broad.mit.edu	37	16	2812362	2812362	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812362G>C	uc002crk.2	+	11	2382	c.1833G>C	c.(1831-1833)CGG>CGC	p.R611R	SRRM2_uc002crj.1_Silent_p.R515R|SRRM2_uc002crl.1_Silent_p.R611R|SRRM2_uc010bsu.1_Silent_p.R515R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	611	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CACCAGCCCGGAGGGGCAGGT	0.622		NaN											0	0	0	0.001168	0	6	85				
SRRM2	23524	broad.mit.edu	37	16	2814751	2814751	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2814751G>C	uc002crk.2	+	11	4771	c.4222G>C	c.(4222-4224)GAT>CAT	p.D1408H	SRRM2_uc002crj.1_Missense_Mutation_p.D1312H|SRRM2_uc002crl.1_Missense_Mutation_p.D1408H|SRRM2_uc010bsu.1_Missense_Mutation_p.D1312H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1408	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ACCTGTGCTTGATGCTGTACC	0.473		NaN											0	0	0	0.010771	0	39	226				
PRSS33	260429	broad.mit.edu	37	16	2835105	2835105	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2835105G>A	uc002cro.1	-	5	742	c.582C>T	c.(580-582)GAC>GAT	p.D194D	PRSS33_uc002crp.1_Missense_Mutation_p.R104W|PRSS33_uc010uwh.1_Silent_p.D194D	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	194	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						GGTAGAGGCCGTCGCAGGTGC	0.687		NaN											0	0	0	0.009096	0	3	11				
ZNF213	7760	broad.mit.edu	37	16	3191255	3191255	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3191255C>T	uc010uws.1	+	6	1734	c.1287C>T	c.(1285-1287)TTC>TTT	p.F429F	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.F429F|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	429	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCGGCCCTTCGGCTGCGGAG	0.672		NaN											0	0	0	0.001855	0	11	99				
ZNF200	7752	broad.mit.edu	37	16	3274032	3274032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3274032C>T	uc002cuj.2	-	5	1680	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K	ZNF200_uc002cum.3_Missense_Mutation_p.E349K|ZNF200_uc010bti.2_Missense_Mutation_p.E349K|ZNF200_uc002cuk.2_Missense_Mutation_p.E350K|ZNF200_uc002cui.2_Missense_Mutation_p.E349K|ZNF200_uc002cul.3_Missense_Mutation_p.E349K	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	350	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGCACAAACTCCTCATTCTTT	0.448		NaN											0	0	0	0.004007	0	14	153				
TFAP4	7023	broad.mit.edu	37	16	4310139	4310139	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4310139G>A	uc010uxg.1	-	6	1028	c.774C>T	c.(772-774)GTC>GTT	p.V258V		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	258					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CAGAGTTGATGACCGAGGAGG	0.622		NaN											0	0	0	0.005443	0	24	172				
PPL	5493	broad.mit.edu	37	16	4934113	4934113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934113C>G	uc002cyd.1	-	22	4633	c.4543G>C	c.(4543-4545)GAG>CAG	p.E1515Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1515	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CTCTGGATCTCTTGCTCGGTG	0.637		NaN											0	0	0	0.004482	0	8	48				
PPL	5493	broad.mit.edu	37	16	4934819	4934819	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934819C>T	uc002cyd.1	-	22	3927	c.3837G>A	c.(3835-3837)CTG>CTA	p.L1279L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1279	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TGGTGTCTTTCAGGGCCTGGA	0.532		NaN											0	0	0	0.003271	0	27	132				
PPL	5493	broad.mit.edu	37	16	4934921	4934921	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934921C>T	uc002cyd.1	-	22	3825	c.3735G>A	c.(3733-3735)GAG>GAA	p.E1245E		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1245	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GAAGCTCCTTCTCCATCTCAG	0.532		NaN											0	0	0	0.008291	0	10	70				
PPL	5493	broad.mit.edu	37	16	4935359	4935359	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4935359C>T	uc002cyd.1	-	22	3387	c.3297G>A	c.(3295-3297)AAG>AAA	p.K1099K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1099	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TCTCTAGCCTCTTGAGCTTGT	0.632		NaN											0	0	0	0.008871	0	17	114				
PPL	5493	broad.mit.edu	37	16	4939015	4939015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4939015G>C	uc002cyd.1	-	19	2451	c.2361C>G	c.(2359-2361)ATC>ATG	p.I787M		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	787	Spectrin 4.|Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AATTGGCACAGATCTTCTGTA	0.448		NaN											0	0	0	0.00361	0	55	485				
FAM86A	196483	broad.mit.edu	37	16	5145479	5145479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:5145479C>T	uc002cyo.2	-	2	182	c.133G>A	c.(133-135)GAG>AAG	p.E45K	FAM86A_uc002cyp.2_Missense_Mutation_p.E45K	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	45											0						CGCAGCAGCTCAGAATCTGAT	0.478		NaN											0	0	0	0.006122	0	14	79				
ATF7IP2	80063	broad.mit.edu	37	16	10576009	10576009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:10576009G>A	uc002czu.2	+	12	2179	c.1952G>A	c.(1951-1953)AGA>AAA	p.R651K	ATF7IP2_uc002czv.2_3'UTR|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.R195K|ATF7IP2_uc002czw.2_Missense_Mutation_p.R651K|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	651	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCTTCCAACAGATACTATTTT	0.338		NaN											0	0	0	0.004482	0	7	47				
RUNDC2A	84127	broad.mit.edu	37	16	12145758	12145758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:12145758C>T	uc002dbw.1	+	8	865	c.803C>T	c.(802-804)TCA>TTA	p.S268L	SNX29_uc002dby.3_5'Flank	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	268										ovary(1)	1						AACATAATCTCATTTGATGAT	0.433		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								0	0	0	0.010729	0	8	45				
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:20999081G>C	uc010vbe.1	-	46	6816	c.6816C>G	c.(6814-6816)GTC>GTG	p.V2272V	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483		NaN											0	0	0	0.00245	0	13	78				
AQP8	343	broad.mit.edu	37	16	25232864	25232864	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:25232864C>G	uc002doc.2	+	3	429	c.347C>G	c.(346-348)TCA>TGA	p.S116*		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	116	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		TACTGGGTCTCACAGCTGCTC	0.627		NaN											0	0	0	0.003755	0	26	214				
SRCAP	10847	broad.mit.edu	37	16	30715622	30715622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:30715622G>A	uc002dze.1	+	4	677	c.292G>A	c.(292-294)GAA>AAA	p.E98K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	98					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGAAATTGCAGAACAGGCCAA	0.493		NaN											0	0	0	0.006999	0	31	178		Valid		
STX4	6810	broad.mit.edu	37	16	31049270	31049270	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31049270C>T	uc002eal.2	+	6	626	c.402C>T	c.(400-402)TTC>TTT	p.F134F	STX4_uc002eak.2_Silent_p.F132F|STX4_uc002eam.2_Silent_p.F56F	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	134	Cytoplasmic (Potential).|Potential.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						CCCAGCAATTCGTGGAGCTCA	0.547		NaN											0	0	0	0.010729	0	10	106				
ITGAM	3684	broad.mit.edu	37	16	31309204	31309204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31309204G>A	uc002ebq.2	+	14	1734	c.1636G>A	c.(1636-1638)GAG>AAG	p.E546K	ITGAM_uc002ebr.2_Missense_Mutation_p.E547K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	546	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CCCAGGAGAGGAGGACAACCG	0.617		NaN											0	0	0	0.008871	0	19	158				
ARMC5	79798	broad.mit.edu	37	16	31473868	31473868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31473868C>T	uc002ecc.2	+	3	1529	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	ARMC5_uc010vfn.1_Missense_Mutation_p.R429C|ARMC5_uc010vfo.1_Missense_Mutation_p.R366C|ARMC5_uc002eca.3_Missense_Mutation_p.R334C|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R334C	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	334	ARM 5.						binding			pancreas(1)	1						GCTCCGGCAGCGCCGGGATCC	0.647		NaN											0	0	0	0.008871	0	16	121				
SLC5A2	6524	broad.mit.edu	37	16	31499002	31499002	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31499002C>T	uc002ecf.3	+	7	826	c.807C>T	c.(805-807)CCC>CCT	p.P269P	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	269	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TCCGGCACCCCGTGACCGGGG	0.667		NaN											0	0	0	0.010504	0	17	80				
ABCC12	94160	broad.mit.edu	37	16	48177916	48177916	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:48177916G>A	uc002efc.1	-	2	526	c.180C>T	c.(178-180)CTC>CTT	p.L60L	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.L60L|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	60						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TCACCGGCGTGAGCCAGGAAA	0.567		NaN											0	0	0	0.00245	0	12	101				
NOD2	64127	broad.mit.edu	37	16	50745519	50745519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:50745519C>G	uc002egm.1	+	4	1802	c.1697C>G	c.(1696-1698)TCA>TGA	p.S566*	NOD2_uc010cbk.1_Nonsense_Mutation_p.S539*|NOD2_uc002egl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbm.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	566	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				TACGTGTTCTCAGCCCAGCAG	0.647		NaN											0	0	0	0.00308	0	6	52				
IRX5	10265	broad.mit.edu	37	16	54967531	54967531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:54967531C>T	uc002ehv.2	+	3	1198	c.1198C>T	c.(1198-1200)CGG>TGG	p.R400W	IRX5_uc002ehw.2_Missense_Mutation_p.R334W	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	400					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						GGTGCTGTCCCGGCCTCTCTA	0.711		NaN											0	0	0	0.006214	0	9	39				
GPR56	9289	broad.mit.edu	37	16	57695626	57695626	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:57695626C>G	uc002emb.2	+	14	1992	c.1700C>G	c.(1699-1701)TCC>TGC	p.S567C	GPR56_uc002ema.1_Missense_Mutation_p.S392C|GPR56_uc002emc.2_Missense_Mutation_p.S561C|GPR56_uc002emf.2_Missense_Mutation_p.S561C|GPR56_uc010vhs.1_Missense_Mutation_p.S567C|GPR56_uc002emd.2_Missense_Mutation_p.S561C|GPR56_uc002eme.2_Missense_Mutation_p.S561C|GPR56_uc010vht.1_Missense_Mutation_p.S566C|GPR56_uc002emg.3_Missense_Mutation_p.S561C|GPR56_uc010vhu.1_Missense_Mutation_p.S386C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	567	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						ATCCGGGACTCCCTGGTCAGC	0.552		NaN											0	0	0	0.001168	0	6	32				
CDH11	1009	broad.mit.edu	37	16	64981694	64981694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:64981694G>A	uc002eoi.2	-	13	2637	c.2203C>T	c.(2203-2205)CCT>TCT	p.P735S	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P609S	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	735	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCATAAGGAGGAGCCGTGGGG	0.567		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.00245	0	14	41				
CDH11	1009	broad.mit.edu	37	16	65016069	65016069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:65016069C>T	uc002eoi.2	-	8	1569	c.1135G>A	c.(1135-1137)GAG>AAG	p.E379K	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E379K|CDH11_uc010vin.1_Missense_Mutation_p.E253K|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	379	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATAGGGGGCTCATCAGCATCT	0.527		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.001984	0	5	77				
CDH16	1014	broad.mit.edu	37	16	66949265	66949265	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:66949265G>T	uc002eql.2	-	6	514	c.441C>A	c.(439-441)TTC>TTA	p.F147L	CDH16_uc010cdy.2_Missense_Mutation_p.F147L|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGCCTCAAGGAAGAGGAAGG	0.582		NaN											1	0	4.72057e-08	0.003954	4.96177e-08	18	75				
B3GNT9	84752	broad.mit.edu	37	16	67183434	67183434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183434G>C	uc002erf.2	-	2	1276	c.955C>G	c.(955-957)CTG>GTG	p.L319V	uc002erg.1_5'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	319	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						CACATGCCCAGAAAGACGTCG	0.687		NaN											0	0	0	0.00308	0	5	12				
B3GNT9	84752	broad.mit.edu	37	16	67183755	67183755	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183755G>C	uc002erf.2	-	2	955	c.634C>G	c.(634-636)CTA>GTA	p.L212V	uc002erg.1_Missense_Mutation_p.R53T	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	212	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						GCCCAGGCTAGAAAGTGGATC	0.592		NaN											0	0	0	0.009096	0	4	15				
ELMO3	79767	broad.mit.edu	37	16	67233112	67233112	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67233112G>A	uc002esa.2	+	1	85	c.42G>A	c.(40-42)CCG>CCA	p.P14P	ELMO3_uc002esb.2_Silent_p.P14P|ELMO3_uc002esc.2_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	Error:Variant_position_missing_in_Q96BJ8_after_alignment					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCGGGACACCGAGGTCAGGTC	0.687		NaN											0	0	0	0.001168	0	4	16				
SLC12A4	6560	broad.mit.edu	37	16	67985768	67985768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67985768C>T	uc002euz.2	-	8	1231	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	SLC12A4_uc010ceu.2_Missense_Mutation_p.E358K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E333K|SLC12A4_uc010vki.1_Missense_Mutation_p.E364K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E366K|SLC12A4_uc002eva.2_Missense_Mutation_p.E364K|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	364	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGGATCTCGGTCACATTG	0.607		NaN											0	0	0	0.001168	0	6	32				
COG4	25839	broad.mit.edu	37	16	70517820	70517820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70517820G>A	uc002ezc.2	-	14	1774	c.1763C>T	c.(1762-1764)GCC>GTC	p.A588V	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.A44V|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.A567V|COG4_uc002eze.2_Missense_Mutation_p.A282V	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	584					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GTCAAACTTGGCCTGGGCCTG	0.582		NaN											0	0	0	0.002299	0	21	120				
COG4	25839	broad.mit.edu	37	16	70551628	70551628	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70551628C>T	uc002ezc.2	-	3	281	c.270G>A	c.(268-270)CTG>CTA	p.L90L	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L90L|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	86	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453		NaN											0	0	0	0.003954	0	20	112				
HYDIN	54768	broad.mit.edu	37	16	71220736	71220736	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71220736G>C	uc002ezr.2	-	2	191	c.63C>G	c.(61-63)TTC>TTG	p.F21L	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.F21L|HYDIN_uc010vmc.1_Missense_Mutation_p.F38L|HYDIN_uc010vmd.1_Missense_Mutation_p.F48L|HYDIN_uc002ezw.3_Missense_Mutation_p.F38L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	21										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GAAATCCTTTGAACATATTGA	0.383		NaN											0	0	0	0.000602	0	4	33				
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71571634G>A	uc002fan.2	+	2	1235	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N	CHST4_uc002fao.2_Missense_Mutation_p.D352N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	352	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGCCTGTGGCGATGCCATGAA	0.512		NaN									OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	47				
KARS	3735	broad.mit.edu	37	16	75681495	75681495	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:75681495C>T	uc002feq.2	-	1	91	c.43G>A	c.(43-45)GAG>AAG	p.E15K	KARS_uc002fer.2_5'UTR|KARS_uc002fes.2_5'UTR|KARS_uc010cha.1_Intron|TERF2IP_uc002fet.1_5'Flank	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	15				Missing: Loss of nuclear localization, but no effect on packaging into HIV-1.	interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	AGTTTCGGCTCGCTGCCATCC	0.587		NaN											0	0	0	0.004482	0	7	38				
ADAMTS18	170692	broad.mit.edu	37	16	77393224	77393224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:77393224G>A	uc002ffc.3	-	8	1732	c.1313C>T	c.(1312-1314)TCA>TTA	p.S438L	ADAMTS18_uc010chc.1_Missense_Mutation_p.S26L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S134L|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	438	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTTGTGCCCTGACTCATGAGC	0.463		NaN											0	0	0	0.000602	0	4	22				
ZC3H18	124245	broad.mit.edu	37	16	88690429	88690429	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:88690429C>T	uc002fky.2	+	11	2057	c.1857C>T	c.(1855-1857)ATC>ATT	p.I619I	ZC3H18_uc010voz.1_Silent_p.I643I|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	619	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACCTTCCATCAGAACCAAGG	0.672		NaN											0	0	0	0.009535	0	23	155				
TUBB3	10381	broad.mit.edu	37	16	90002120	90002120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:90002120G>A	uc002fph.1	+	4	1326	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K	TUBB3_uc002fpf.2_Missense_Mutation_p.E768K|TUBB3_uc010ciz.1_Missense_Mutation_p.E349K|TUBB3_uc002fpg.1_Missense_Mutation_p.E275K|TUBB3_uc002fpi.1_Missense_Mutation_p.E349K|TUBB3_uc002fpj.1_Missense_Mutation_p.E349K|TUBB3_uc010cjb.1_Missense_Mutation_p.E275K|TUBB3_uc002fpk.1_Missense_Mutation_p.E275K	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	421					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTGGTGTCCGAGTACCAGCA	0.632		NaN											0	0	0	0.003954	0	19	106				
OR1E2	8388	broad.mit.edu	37	17	3337109	3337109	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3337109G>A	uc010vre.1	-	1	27	c.27C>T	c.(25-27)ATC>ATT	p.I9I		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	9	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						GGAAGTCTGAGATGCTGGTTT	0.458		NaN											0	0	0	0.002299	0	9	59				
P2RX5	5026	broad.mit.edu	37	17	3593966	3593966	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3593966G>A	uc002fwi.2	-	4	653	c.369C>T	c.(367-369)GGC>GGT	p.G123G	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.G123G|P2RX5_uc010vrx.1_Silent_p.G63G|P2RX5_uc002fwj.2_Silent_p.G99G|P2RX5_uc002fwk.2_Silent_p.G123G|P2RX5_uc002fwl.2_Silent_p.G99G|P2RX5_uc002fwm.1_Silent_p.G123G	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	123	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CATCAGGAATGCCTTCATTCT	0.632		NaN											0	0	0	0.003163	0	12	74				
ZZEF1	23140	broad.mit.edu	37	17	3936223	3936223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3936223C>T	uc002fxe.2	-	41	6722	c.6658G>A	c.(6658-6660)GAT>AAT	p.D2220N	ZZEF1_uc002fxh.2_Missense_Mutation_p.D534N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D455N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2220							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAATGACATCACGCCACAGT	0.597		NaN											0	0	0	0.00308	0	8	35				
TEKT1	83659	broad.mit.edu	37	17	6719158	6719158	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:6719158C>T	uc002gdt.2	-	4	590	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	TEKT1_uc010vth.1_Silent_p.Q14Q	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	160	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				CATACCGAATCTGCTCGGAAG	0.532		NaN											0	0	0	0.000602	0	4	52				
TMEM88	92162	broad.mit.edu	37	17	7758849	7758849	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7758849C>T	uc002giy.2	+	2	306	c.297C>T	c.(295-297)CTC>CTT	p.L99L	CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	99	Helical; (Potential).					integral to membrane					0		all_cancers(10;0.00528)|Prostate(122;0.202)				TCCTGCTCCTCGTGCCGCTGC	0.682		NaN											0	0	0	0.00632	0	25	136				
GUCY2D	3000	broad.mit.edu	37	17	7910802	7910802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7910802G>T	uc002gjt.2	+	6	1596	c.1522G>T	c.(1522-1524)GAC>TAC	p.D508Y		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	508	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTGACCGTGGACGACATCAC	0.562		NaN											1	0	1.19451e-25	0.00361	1.29115e-25	38	189				
MYH2	4620	broad.mit.edu	37	17	10441042	10441042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10441042G>C	uc010coi.2	-	15	1655	c.1527C>G	c.(1525-1527)ATC>ATG	p.I509M	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.I509M|MYH2_uc010coj.2_Missense_Mutation_p.I509M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	509	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						ACGTCCACTCGATGCCTTCCT	0.493		NaN											0	0	0	0.012319	0	17	199				
C17orf48	56985	broad.mit.edu	37	17	10608412	10608412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10608412G>A	uc002gmt.2	+	2	244	c.169G>A	c.(169-171)GAA>AAA	p.E57K	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.E57K	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	57							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						GGGTGCCATTGAAGACTGGAA	0.428		NaN											0	0	0	0.001368	0	13	75				
PMP22	5376	broad.mit.edu	37	17	15162452	15162452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15162452G>A	uc002goj.2	-	2	186	c.137C>T	c.(136-138)TCC>TTC	p.S46F	PMP22_uc002gok.2_Missense_Mutation_p.S46F|PMP22_uc002gol.2_Missense_Mutation_p.S46F	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	46					peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		ATTTCCTGAGGAAGAGGTGCT	0.463		NaN											0	0	0	0.001368	0	8	75				
TTC19	54902	broad.mit.edu	37	17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15902870C>G	uc002gph.1	+	1	89	c.71C>G	c.(70-72)TCA>TGA	p.S24*	ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	Error:Variant_position_missing_in_Q6DKK2_after_alignment					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746		NaN											0	0	0	0.001984	0	4	21				
NCOR1	9611	broad.mit.edu	37	17	16049769	16049769	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:16049769C>G	uc002gpo.2	-	10	1243	c.1003G>C	c.(1003-1005)GAA>CAA	p.E335Q	NCOR1_uc002gpn.2_Missense_Mutation_p.E335Q|NCOR1_uc002gpp.1_Missense_Mutation_p.E226Q|NCOR1_uc002gpr.2_Missense_Mutation_p.E226Q|NCOR1_uc002gps.1_Missense_Mutation_p.E344Q|NCOR1_uc010coz.1_Missense_Mutation_p.E151Q|NCOR1_uc010cpb.1_Missense_Mutation_p.E344Q|NCOR1_uc010cpa.1_Missense_Mutation_p.E335Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	335	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTTGCTTTCTTTAGCTTTC	0.368		NaN											0	0	0	0.008291	0	8	48		Valid		
RAI1	10743	broad.mit.edu	37	17	17700429	17700429	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:17700429G>A	uc002grm.2	+	3	4636	c.4167G>A	c.(4165-4167)CAG>CAA	p.Q1389Q	RAI1_uc002grn.1_Silent_p.Q1389Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1389						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCACCGGGCAGAAGCTCCCAA	0.537		NaN											0	0	0	0.004007	0	13	79				
FAM83G	644815	broad.mit.edu	37	17	18881778	18881778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:18881778G>A	uc002guw.2	-	5	1368	c.1201C>T	c.(1201-1203)CAC>TAC	p.H401Y	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	401										ovary(1)|central_nervous_system(1)	2						CTCTCCAGGTGAAGCAGTCCT	0.637		NaN											0	0	0	0.004672	0	3	13				
RNF112	7732	broad.mit.edu	37	17	19316427	19316427	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:19316427C>T	uc010vyw.1	+	4	757	c.558C>T	c.(556-558)CTC>CTT	p.L186L	RNF112_uc010vyu.1_Silent_p.L186L|RNF112_uc010vyv.1_Silent_p.L186L|RNF112_uc010vyx.1_Intron	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	186							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CCTTCCTCCTCAACCATTTGC	0.682		NaN											0	0	0	0.004482	0	5	84				
SARM1	23098	broad.mit.edu	37	17	26687798	26687798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26687798C>G	uc010wah.1	+	5	466	c.459C>G	c.(457-459)TTC>TTG	p.F153L	TMEM199_uc002hba.2_Missense_Mutation_p.F153L	NM_152464	NP_689677	Q6SZW1	SARM1_HUMAN	transmembrane protein 199	Error:Variant_position_missing_in_Q6SZW1_after_alignment					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCTTCAATTTCATTGTCACGG	0.502		NaN											0	0	0	0.010504	0	14	108				
KIAA0100	9703	broad.mit.edu	37	17	26964034	26964034	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26964034G>A	uc002hbu.2	-	15	2025	c.1926C>T	c.(1924-1926)CTC>CTT	p.L642L		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	642						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGGAAAGGCTGAGCACTGGGG	0.547		NaN											0	0	0	0.002836	0	25	155				
ERAL1	26284	broad.mit.edu	37	17	27186107	27186107	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27186107G>A	uc002hcy.1	+	8	1096	c.1086G>A	c.(1084-1086)CAG>CAA	p.Q362Q	ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.Q169Q|ERAL1_uc002hdb.1_Silent_p.Q245Q	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	362	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACCTGCCCCAGGAGGTGCCTT	0.527		NaN											0	0	0	0.004007	0	13	110				
MYO18A	399687	broad.mit.edu	37	17	27419972	27419972	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27419972C>T	uc002hdt.1	-	33	5132	c.4974G>A	c.(4972-4974)CTG>CTA	p.L1658L	MYO18A_uc010wbc.1_Silent_p.L1191L|MYO18A_uc002hds.2_Silent_p.L1200L|MYO18A_uc010csa.1_Silent_p.L1621L|MYO18A_uc002hdu.1_Silent_p.L1658L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1658	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGTGCGCTTCAGGTCCTTCC	0.617		NaN											0	0	0	0.001368	0	13	68				
CORO6	84940	broad.mit.edu	37	17	27943163	27943163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27943163C>T	uc002hel.2	-	9	1095	c.1093G>A	c.(1093-1095)GAT>AAT	p.D365N	CORO6_uc002hem.2_Missense_Mutation_p.D131N|CORO6_uc002hen.2_Missense_Mutation_p.D131N	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	365					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CCTGGCGTATCCGGGTACAGA	0.672		NaN											0	0	0	0.003163	0	14	96				
BLMH	642	broad.mit.edu	37	17	28593921	28593921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28593921C>T	uc002hez.1	-	11	1435	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	BLMH_uc010wbn.1_Missense_Mutation_p.E313K	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	400					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						CCATGGTCTTCACCCCATGAA	0.493		NaN											0	0	0	0.000602	0	4	70				
TBC1D29	26083	broad.mit.edu	37	17	28890294	28890294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28890294G>A	uc002hfh.2	+	5	453	c.304G>A	c.(304-306)GAG>AAG	p.E102K	TBC1D29_uc002hfi.2_RNA	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	102						intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				GACAGCCTCAGAGAGCAGCAG	0.597		NaN											0	0	0	0.001984	0	6	45				
NF1	4763	broad.mit.edu	37	17	29490350	29490350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29490350C>T	uc002hgg.2	+	4	768	c.435C>T	c.(433-435)CTC>CTT	p.L145L	NF1_uc002hge.1_Silent_p.L145L|NF1_uc002hgf.1_Silent_p.L145L|NF1_uc002hgh.2_Silent_p.L145L|NF1_uc010csn.1_Missense_Mutation_p.S41L	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	145			L -> P (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(5)|p.?(4)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTTTCTCTCAGCTGCAACA	0.418		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.006214	0	7	45				
RAB11FIP4	84440	broad.mit.edu	37	17	29849000	29849000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29849000C>T	uc002hgn.1	+	6	1055	c.826C>T	c.(826-828)CAA>TAA	p.Q276*	RAB11FIP4_uc002hgo.2_Nonsense_Mutation_p.Q174*	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	276	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TTACTGCTCTCAATGCTGCAA	0.527		NaN											0	0	0	0.002299	0	19	141				
RHOT1	55288	broad.mit.edu	37	17	30503214	30503214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:30503214G>A	uc002hgz.2	+	6	550	c.311G>A	c.(310-312)AGA>AAA	p.R104K	RHOT1_uc002hgw.2_Missense_Mutation_p.R104K|RHOT1_uc002hgy.2_Missense_Mutation_p.R104K|RHOT1_uc002hha.2_5'UTR|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_5'UTR|RHOT1_uc010wby.1_Missense_Mutation_p.R104K|RHOT1_uc002hhb.2_Missense_Mutation_p.R83K|RHOT1_uc002hgv.2_Missense_Mutation_p.R104K	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 3	104	Miro 1.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATAAATGAAAGAACAGACAAA	0.254		NaN											0	0	0	0.009096	0	3	26				
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33288630G>C	uc002hih.3	+	1	82	c.45G>C	c.(43-45)GTG>GTC	p.V15V	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	15					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557		NaN											0	0	0	0.00278	0	21	132				
SLFN5	162394	broad.mit.edu	37	17	33586238	33586238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33586238G>C	uc002hjf.3	+	2	646	c.529G>C	c.(529-531)GAT>CAT	p.D177H	SLFN5_uc002hje.2_Missense_Mutation_p.D177H|SLFN5_uc010wcg.1_Missense_Mutation_p.D177H	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	177					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGCTTTATTTGATAGAAAGCG	0.398		NaN											0	0	0	0.008291	0	8	74				
ACACA	31	broad.mit.edu	37	17	35615184	35615184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35615184G>A	uc002hnm.2	-	13	1692	c.1501C>T	c.(1501-1503)CCA>TCA	p.P501S	ACACA_uc002hnk.2_Missense_Mutation_p.P423S|ACACA_uc002hnl.2_Missense_Mutation_p.P443S|ACACA_uc002hnn.2_Missense_Mutation_p.P501S|ACACA_uc002hno.2_Missense_Mutation_p.P538S|ACACA_uc010cuz.2_Missense_Mutation_p.P501S	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	501	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGCCCCTTGGACAAGGAACG	0.408		NaN											0	0	0	0.006214	0	7	55				
ACACA	31	broad.mit.edu	37	17	35627678	35627678	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35627678G>A	uc002hnm.2	-	10	1163	c.972C>T	c.(970-972)GTC>GTT	p.V324V	ACACA_uc002hnk.2_Silent_p.V246V|ACACA_uc002hnl.2_Silent_p.V266V|ACACA_uc002hnn.2_Silent_p.V324V|ACACA_uc002hno.2_Silent_p.V361V|ACACA_uc010cuz.2_Silent_p.V324V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	324	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCATTGTTGACTTTTCTAA	0.363		NaN											0	0	0	0.007413	0	15	151				
STARD3	10948	broad.mit.edu	37	17	37810000	37810000	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37810000G>C	uc002hsd.2	+	2	340	c.216G>C	c.(214-216)CTG>CTC	p.L72L	STARD3_uc010weg.1_Silent_p.L72L|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Silent_p.L72L|STARD3_uc010wei.1_Silent_p.L72L|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	72	Helical; (Potential).|MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCATCGAACTGAATGTGAGTG	0.622		NaN									OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	12	107				
ERBB2	2064	broad.mit.edu	37	17	37884048	37884048	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884048C>G	uc002hso.2	+	27	3757	c.3519C>G	c.(3517-3519)CTC>CTG	p.L1173L	ERBB2_uc002hsm.2_Silent_p.L1143L|ERBB2_uc010cwa.2_Silent_p.L1158L|ERBB2_uc002hsp.2_Silent_p.L976L|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.L897L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1173	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCAAGACTCTCTCCCCAGGGA	0.642		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.008291	0	8	61				
ERBB2	2064	broad.mit.edu	37	17	37884180	37884180	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884180C>T	uc002hso.2	+	27	3889	c.3651C>T	c.(3649-3651)TTC>TTT	p.F1217F	ERBB2_uc002hsm.2_Silent_p.F1187F|ERBB2_uc010cwa.2_Silent_p.F1202F|ERBB2_uc002hsp.2_Silent_p.F1020F|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.F941F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1217	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCCCAGCCTTCGACAACCTCT	0.627		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.00632	0	25	153				
IKZF3	22806	broad.mit.edu	37	17	37947692	37947692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947692G>A	uc002hsu.2	-	5	631	c.569C>T	c.(568-570)ACG>ATG	p.T190M	IKZF3_uc002htd.2_Missense_Mutation_p.T156M|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.T156M|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.T190M|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.T190M|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.T190M|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.T103M|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	190	C2H2-type 3.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGATGCCCCGTGAGCGCATC	0.463		NaN											0	0	0	0.006122	0	8	141				
IKZF3	22806	broad.mit.edu	37	17	37947694	37947694	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947694G>A	uc002hsu.2	-	5	629	c.567C>T	c.(565-567)CTC>CTT	p.L189L	IKZF3_uc002htd.2_Silent_p.L155L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.L155L|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.L189L|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Silent_p.L189L|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Silent_p.L189L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.L102L|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	189	C2H2-type 3.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGCCCCGTGAGCGCATCTC	0.468		NaN											0	0	0	0.008871	0	10	146				
CASC3	22794	broad.mit.edu	37	17	38318321	38318321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38318321G>A	uc010cwt.1	+	5	818	c.523G>A	c.(523-525)GAT>AAT	p.D175N	CASC3_uc010cws.1_Missense_Mutation_p.D175N|CASC3_uc002hue.2_Missense_Mutation_p.D175N	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	175	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TGATGATGAAGATCGGAAGAA	0.478		NaN											0	0	0	0.00245	0	13	82				
KRT26	353288	broad.mit.edu	37	17	38928361	38928361	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38928361G>C	uc002hvf.2	-	1	51	c.5C>G	c.(4-6)TCT>TGT	p.S2C		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	2	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				AAGTCGAAAAGACATGGTGGC	0.547		NaN											0	0	0	0.003163	0	15	92				
KRT15	3866	broad.mit.edu	37	17	39671773	39671773	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:39671773C>T	uc002hwy.2	-	6	1389	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K	KRT15_uc002hwz.2_Missense_Mutation_p.E302K|KRT15_uc002hxa.2_Missense_Mutation_p.E235K|KRT15_uc002hxb.1_Missense_Mutation_p.E235K	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	400	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				ATCTCCTGCTCCAGCCGTGTC	0.602		NaN											0	0	0	0.008871	0	15	158				
DNAJC7	7266	broad.mit.edu	37	17	40169363	40169363	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:40169363C>T	uc002hyo.2	-	1	309	c.72G>A	c.(70-72)GCG>GCA	p.A24A	DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	24					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GTTACCTCTTCGCCTCTTGGT	0.652		NaN											0	0	0	0.00361	0	38	261				
NBR1	4077	broad.mit.edu	37	17	41352511	41352511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:41352511G>T	uc010czd.2	+	17	2494	c.2354G>T	c.(2353-2355)GGA>GTA	p.G785V	NBR1_uc010diz.2_Missense_Mutation_p.G785V|NBR1_uc010whu.1_Missense_Mutation_p.G785V|NBR1_uc010whv.1_Missense_Mutation_p.G785V|NBR1_uc010whw.1_Missense_Mutation_p.G764V	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	785					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGACTCCCTGGAGGGGAGAAC	0.602		NaN											1	0	1.61879e-10	0.001368	1.71401e-10	12	35				
MPP3	4356	broad.mit.edu	37	17	41879098	41879098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:41879098G>A	uc002iei.3	-	20	1895	c.1729C>T	c.(1729-1731)CAC>TAC	p.H577Y	MPP3_uc002ieh.2_Missense_Mutation_p.H602Y|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	577					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGTACCCAGTGAGTGTCCTTG	0.363		NaN											0	0	0	0.00278	0	20	162				
ADAM11	4185	broad.mit.edu	37	17	42850646	42850646	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:42850646C>G	uc002ihh.2	+	11	843	c.843C>G	c.(841-843)CTC>CTG	p.L281L	ADAM11_uc010wjd.1_Silent_p.L81L	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	281	Extracellular (Potential).|Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				AGGAGCAGCTCAACACTCGCA	0.607		NaN											0	0	0	0.007291	0	23	173				
KPNB1	3837	broad.mit.edu	37	17	45747074	45747074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45747074G>C	uc002ilt.1	+	11	1591	c.1255G>C	c.(1255-1257)GAC>CAC	p.D419H	KPNB1_uc010wkw.1_Missense_Mutation_p.D274H|KPNB1_uc010wkx.1_Missense_Mutation_p.D203H	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	419	HEAT 6.|Ran-GTP binding.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTAATGAAAGACCCCAGTGT	0.408		NaN											0	0	0	0.012319	0	15	114				
LRRC46	90506	broad.mit.edu	37	17	45909489	45909489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45909489G>A	uc002ima.2	+	2	290	c.34G>A	c.(34-36)GAA>AAA	p.E12K	MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	12										ovary(1)	1						GGGTCCAGAGGAAGGGGGCGT	0.532		NaN											0	0	0	0.008871	0	16	155				
SCRN2	90507	broad.mit.edu	37	17	45916235	45916235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45916235G>C	uc002imd.2	-	5	820	c.694C>G	c.(694-696)CTG>GTG	p.L232V	SCRN2_uc002imc.2_Missense_Mutation_p.L240V|SCRN2_uc002imf.2_Missense_Mutation_p.L232V|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	232					proteolysis		dipeptidase activity			ovary(1)	1						TGCTGGGTCAGGGAGAAGATC	0.662		NaN											0	0	0	0.007291	0	27	202				
IGF2BP1	10642	broad.mit.edu	37	17	47109291	47109291	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47109291G>A	uc002iom.2	+	5	691	c.357G>A	c.(355-357)ACG>ACA	p.T119T	IGF2BP1_uc010dbj.2_Silent_p.T119T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	119	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AGAGTGAGACGGCAGTGGTGA	0.577		NaN									OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	53	348				
MYST2	11143	broad.mit.edu	37	17	47886483	47886483	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47886483G>A	uc002ipm.2	+	6	792	c.666G>A	c.(664-666)GTG>GTA	p.V222V	MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Silent_p.V83V|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Silent_p.V66V|MYST2_uc010wme.1_Intron	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	222					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						GGTTGCAGGTGAGAGCACAGA	0.393		NaN											0	0	0	0.00308	0	7	56				
ITGA3	3675	broad.mit.edu	37	17	48155409	48155409	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48155409G>A	uc010dbl.2	+	17	2604	c.2140_splice	c.e17-1	p.M714_splice	ITGA3_uc010dbm.2_Splice_Site_p.M714_splice	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						CCTTGTGGCAGATGGAGCTGC	0.592		NaN											0	0	0	0.004007	0	13	158				
PPP1R9B	84687	broad.mit.edu	37	17	48218657	48218657	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48218657G>C	uc002iqh.3	-	6	1710	c.1707C>G	c.(1705-1707)CTC>CTG	p.L569L		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	567	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						TGGTGTTCCGGAGCACAGACG	0.627		NaN											0	0	0	0.009096	0	3	16				
TOM1L1	10040	broad.mit.edu	37	17	53014503	53014503	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:53014503C>A	uc002iud.2	+	10	1124	c.949C>A	c.(949-951)CTC>ATC	p.L317I	TOM1L1_uc002iuc.2_Missense_Mutation_p.L317I|TOM1L1_uc010dca.1_Missense_Mutation_p.L317I|TOM1L1_uc010wnb.1_Missense_Mutation_p.L310I|TOM1L1_uc010wnc.1_Missense_Mutation_p.L240I|TOM1L1_uc010dbz.2_Missense_Mutation_p.L240I|TOM1L1_uc010wnd.1_Missense_Mutation_p.L205I|TOM1L1_uc010dcb.1_RNA	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	317					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1						ATCTCAAGATCTCCTCGACCT	0.433		NaN											1	0	5.16669e-11	0.010729	5.47956e-11	10	81				
SFRS1	6426	broad.mit.edu	37	17	56082931	56082931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56082931C>G	uc002ivi.2	-	4	792	c.583G>C	c.(583-585)GAT>CAT	p.D195H	SFRS1_uc002ivj.2_3'UTR	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	195	RRM 2.			Missing: In MR-E; loss of ability to activate splicing.|Missing: In MR-D; loss of ability to activate splicing.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		CTGGGCCCATCAACTTTAACC	0.463		NaN											0	0	0	0.006214	0	7	83				
SEPT4	5414	broad.mit.edu	37	17	56606496	56606496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56606496C>T	uc002iwm.1	-	1	168	c.40G>A	c.(40-42)GAG>AAG	p.E14K	SEPT4_uc002iwk.1_5'Flank|SEPT4_uc010wnw.1_5'Flank|SEPT4_uc002iwl.1_5'Flank|SEPT4_uc002iwn.1_Missense_Mutation_p.E14K|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	14					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCCTGTCCTCAGGGACAGAA	0.552		NaN											0	0	0	0.004878	0	24	132				
RNFT1	51136	broad.mit.edu	37	17	58040624	58040624	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:58040624C>G	uc002iya.2	-	2	171	c.78G>C	c.(76-78)AAG>AAC	p.K26N	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.K26N|RNFT1_uc002iyd.3_Missense_Mutation_p.K26N	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	26						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ACCCAGATGTCTTTGCTTCAG	0.433		NaN											0	0	0	0.001368	0	11	75				
MARCH10	162333	broad.mit.edu	37	17	60814201	60814201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:60814201G>C	uc010ddr.2	-	6	1266	c.1028C>G	c.(1027-1029)TCT>TGT	p.S343C	MARCH10_uc002jag.3_Missense_Mutation_p.S343C|MARCH10_uc010dds.2_Missense_Mutation_p.S381C|MARCH10_uc002jah.2_Missense_Mutation_p.S342C|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	343							ligase activity|zinc ion binding				0						TCTTCTTGAAGAATGACCTCT	0.458		NaN											0	0	0	0.00499	0	16	71				
ACE	1636	broad.mit.edu	37	17	61566065	61566065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61566065G>A	uc002jau.1	+	16	2384	c.2362G>A	c.(2362-2364)GAG>AAG	p.E788K	ACE_uc002jav.1_Missense_Mutation_p.E214K|ACE_uc010ddv.1_Missense_Mutation_p.E15K|ACE_uc010wpj.1_Missense_Mutation_p.E214K|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E98K	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	788	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGGGCATGGGAGGGCTGGCG	0.562		NaN											0	0	0	0.006122	0	16	146				
MAP3K3	4215	broad.mit.edu	37	17	61767079	61767079	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61767079G>A	uc002jbg.2	+	11	1366	c.1047G>A	c.(1045-1047)AGG>AGA	p.R349R	MAP3K3_uc002jbe.2_Silent_p.R380R|MAP3K3_uc002jbf.2_Silent_p.R380R|MAP3K3_uc002jbh.2_Silent_p.R376R|MAP3K3_uc010wpo.1_Silent_p.R264R|MAP3K3_uc010wpp.1_Silent_p.R345R	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	349					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						TGCAGGAGAGGAATGTGCCAA	0.627		NaN											0	0	0	0.000602	0	3	50				
CACNG5	27091	broad.mit.edu	37	17	64880760	64880760	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:64880760C>T	uc010wqi.1	+	5	789	c.552C>T	c.(550-552)ATC>ATT	p.I184I	CACNG5_uc002jfr.2_Silent_p.I184I|CACNG5_uc010wqj.1_Silent_p.I184I	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	184	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCGCCGCCATCTCCTTCCTTT	0.552		NaN											0	0	0	0.002299	0	19	108				
BPTF	2186	broad.mit.edu	37	17	65925584	65925584	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:65925584G>A	uc002jgf.2	+	17	6192	c.6131G>A	c.(6130-6132)GGA>GAA	p.G2044E	BPTF_uc002jge.2_Missense_Mutation_p.G2170E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2170					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTCTGGAGGAACCACAAGC	0.398		NaN											0	0	0	0.00308	0	8	37				
SDK2	54549	broad.mit.edu	37	17	71348646	71348646	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:71348646G>A	uc010dfm.2	-	41	5724	c.5724C>T	c.(5722-5724)TTC>TTT	p.F1908F	SDK2_uc002jjt.3_Silent_p.F1048F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1908	Fibronectin type-III 13.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TGGGGGTGCCGAAACCATAGT	0.647		NaN											0	0	0	0.000602	0	3	42				
KIF19	124602	broad.mit.edu	37	17	72348427	72348427	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72348427G>A	uc002jkm.3	+	14	2066	c.1928G>A	c.(1927-1929)GGC>GAC	p.G643D	KIF19_uc002jkl.2_Missense_Mutation_p.G601D	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	643					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CTGGAGGAGGGCAGCCTGGAG	0.672		NaN											0	0	0	0.009096	0	4	44				
GRIN2C	2905	broad.mit.edu	37	17	72846450	72846450	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72846450G>C	uc002jlt.1	-	6	1542	c.1386C>G	c.(1384-1386)CTC>CTG	p.L462L	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.L462L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	462	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCAGCTTCTTGAGGATGTCGA	0.592		NaN											0	0	0	0.003755	0	30	305				
FDXR	2232	broad.mit.edu	37	17	72859310	72859310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72859310C>T	uc002jly.2	-	11	1320	c.1233G>A	c.(1231-1233)ATG>ATA	p.M411I	GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.M359I|FDXR_uc010wrj.1_Missense_Mutation_p.M409I|FDXR_uc002jlw.2_Missense_Mutation_p.M168I|FDXR_uc002jlx.2_Missense_Mutation_p.M417I|FDXR_uc002jmc.2_Missense_Mutation_p.M383I|FDXR_uc010wrk.1_Missense_Mutation_p.M442I|FDXR_uc010wrl.1_Missense_Mutation_p.M454I|FDXR_uc002jma.2_Missense_Mutation_p.M412I|FDXR_uc010wrm.1_Missense_Mutation_p.M371I|FDXR_uc002jlz.2_Missense_Mutation_p.M403I|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	411					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCTGTCAGTCATGGTTGTGG	0.632		NaN											0	0	0	0.001984	0	5	54				
SUMO2	6613	broad.mit.edu	37	17	73164461	73164461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73164461G>C	uc002jne.2	-	4	430	c.261C>G	c.(259-261)TTC>TTG	p.F87L	SUMO2_uc002jnf.2_Missense_Mutation_p.F63L	NM_006937	NP_008868	P61956	SUMO2_HUMAN	SMT3 suppressor of mif two 3 homolog 2 isoform a	87	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding				0	all_lung(278;0.14)|Lung NSC(278;0.168)					TCTGCTGTTGGAACACATCAA	0.353		NaN											0	0	0	0.009096	0	2	11				
SAP30BP	29115	broad.mit.edu	37	17	73663485	73663485	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73663485C>G	uc002jpe.2	+	1	87	c.33C>G	c.(31-33)CTC>CTG	p.L11L	RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Silent_p.L11L|SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Silent_p.L11L	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	11					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCGTCTCTCGCAGTTTACG	0.607		NaN											0	0	0	0.006122	0	12	73				
ITGB4	3691	broad.mit.edu	37	17	73753570	73753570	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73753570G>C	uc002jpg.2	+	40	5590	c.5403G>C	c.(5401-5403)GTG>GTC	p.V1801V	ITGB4_uc002jph.2_Silent_p.V1731V|ITGB4_uc002jpi.3_Silent_p.V1731V|ITGB4_uc002jpj.2_Silent_p.V1784V|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1801	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAGTTTGTGAGCCGGACAC	0.637		NaN											0	0	0	0.00632	0	24	143				
TRIM47	91107	broad.mit.edu	37	17	73872363	73872363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73872363C>T	uc002jpw.2	-	3	1009	c.982G>A	c.(982-984)GAC>AAC	p.D328N	TRIM47_uc002jpv.2_Missense_Mutation_p.D90N	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	328						cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGACTGAGTCAGCTTCAGGG	0.662		NaN											0	0	0	0.001855	0	10	26				
EVPL	2125	broad.mit.edu	37	17	74005809	74005809	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:74005809G>A	uc002jqi.2	-	22	3705	c.3477C>T	c.(3475-3477)CTC>CTT	p.L1159L	EVPL_uc010wss.1_Silent_p.L1181L|EVPL_uc010wst.1_Silent_p.L629L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1159	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTCCTCCTCGAGGAGGCTCC	0.627		NaN											0	0	0	0.009096	0	4	63				
TNRC6C	57690	broad.mit.edu	37	17	76047219	76047219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76047219G>A	uc002jud.2	+	4	2676	c.2076G>A	c.(2074-2076)TGG>TGA	p.W692*	TNRC6C_uc002juf.2_Nonsense_Mutation_p.W692*|TNRC6C_uc002jue.2_Nonsense_Mutation_p.W692*	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	692	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAACAGGGTGGATCGGGGGGC	0.542		NaN											0	0	0	0.00308	0	7	19				
TNRC6C	57690	broad.mit.edu	37	17	76089176	76089176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76089176C>T	uc002jud.2	+	16	4733	c.4133C>T	c.(4132-4134)TCA>TTA	p.S1378L	TNRC6C_uc002juf.2_Missense_Mutation_p.S1375L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1378	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GATAAAATCTCAAATGGCTCT	0.512		NaN											0	0	0	0.001984	0	5	49				
TMC6	11322	broad.mit.edu	37	17	76113906	76113906	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76113906G>C	uc002juj.1	-	15	2124	c.1998C>G	c.(1996-1998)GTC>GTG	p.V666V	TMC6_uc002jui.1_Silent_p.V245V|TMC6_uc010dhf.1_Silent_p.V499V|TMC6_uc002juk.2_Silent_p.V666V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.V666V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	666	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGAGGAAGACAGCGGCGC	0.687		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.00308	0	5	27				
DNAH17	8632	broad.mit.edu	37	17	76540022	76540022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76540022C>T	uc002jvv.1	-	13	1661	c.1555G>A	c.(1555-1557)GAC>AAC	p.D519N						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATCCAAGTCTAACAGGGCC	0.502		NaN											0	0	0	0.00278	0	22	125				
CHMP6	79643	broad.mit.edu	37	17	78971126	78971126	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:78971126G>A	uc002jyw.3	+	6	558	c.480G>A	c.(478-480)CTG>CTA	p.L160L		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	160					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGAGGAGCTGAGCGCAATCA	0.632		NaN											0	0	0	0.001168	0	5	32				
ACTG1	71	broad.mit.edu	37	17	79479015	79479015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79479015C>A	uc002kaj.1	-	2	302	c.277G>T	c.(277-279)GAG>TAG	p.E93*	ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Nonsense_Mutation_p.E50*|ACTG1_uc002kak.1_Nonsense_Mutation_p.E93*|ACTG1_uc010wun.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kal.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	93					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGCGCAGCTCGTTGTAGAAG	0.617		NaN											1	0	1.30897e-18	0.009535	1.41134e-18	25	113				
C17orf90	339229	broad.mit.edu	37	17	79632293	79632293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79632293C>G	uc002kba.2	-	2	393	c.382G>C	c.(382-384)GAT>CAT	p.D128H	C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	hypothetical protein LOC339229	128											0	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGGTTCTCATCAGCCACGTGC	0.667		NaN											0	0	0	0.004482	0	8	93				
P4HB	5034	broad.mit.edu	37	17	79817199	79817199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79817199C>T	uc002kbn.1	-	2	407	c.210G>A	c.(208-210)CTG>CTA	p.L70L	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	70	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTTCTGCCTTCAGCTTCCCAG	0.602		NaN											0	0	0	0.004656	0	23	160				
RAB40B	10966	broad.mit.edu	37	17	80616443	80616443	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:80616443G>A	uc002kft.2	-	5	615	c.489C>T	c.(487-489)ATC>ATT	p.I163I	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	163					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGACTCTGTGATGTTGAAAT	0.657		NaN											0	0	0	0.001984	0	7	183				
MYOM1	8736	broad.mit.edu	37	18	3131437	3131437	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:3131437G>C	uc002klp.2	-	17	2776	c.2442C>G	c.(2440-2442)GTC>GTG	p.V814V	MYOM1_uc002klq.2_Silent_p.V814V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	814	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CAGCTGCATTGACTGCTCTGA	0.378		NaN											0	0	0	0.00308	0	6	25				
ARHGAP28	79822	broad.mit.edu	37	18	6896547	6896547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:6896547C>G	uc010wzi.1	+	15	1659	c.1421C>G	c.(1420-1422)TCC>TGC	p.S474C	ARHGAP28_uc002knc.2_Missense_Mutation_p.S599C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S492C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S492C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S483C			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	474					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CCACTTCTCTCCAAGGTGTCC	0.443		NaN											0	0	0	0.003163	0	13	67				
LAMA3	3909	broad.mit.edu	37	18	21355773	21355773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:21355773G>A	uc002kuq.2	+	10	1377	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	LAMA3_uc010dlv.1_Missense_Mutation_p.E431K|LAMA3_uc002kur.2_Missense_Mutation_p.E431K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	431	Laminin EGF-like 3.|Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGACCCTGAGCATGCGGA	0.483		NaN											0	0	0	0.006214	0	8	25				
SS18	6760	broad.mit.edu	37	18	23619259	23619259	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:23619259G>T	uc002kvm.2	-	6	847	c.769C>A	c.(769-771)CAA>AAA	p.Q257K	SS18_uc002kvn.2_Missense_Mutation_p.Q257K|SS18_uc010xbf.1_Missense_Mutation_p.Q175K|SS18_uc010xbg.1_Missense_Mutation_p.Q205K|SS18_uc010xbh.1_Missense_Mutation_p.Q205K|SS18_uc010xbi.1_Missense_Mutation_p.Q234K|SS18_uc010dlz.1_Missense_Mutation_p.Q205K	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	257	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTACCCTGTTGAGGAGGTCTA	0.393		NaN	T	SSX1| SSX2	synovial sarcoma								1	0	2.32078e-09	0.003163	2.45329e-09	13	69				
C18orf34	374864	broad.mit.edu	37	18	30926330	30926330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:30926330G>T	uc002kxn.2	-	8	645	c.503C>A	c.(502-504)TCA>TAA	p.S168*	C18orf34_uc010xbr.1_Nonsense_Mutation_p.S168*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.S168*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.S168*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	168	Potential.									ovary(1)	1						AATGGCCTCTGAGAGCAATGT	0.348		NaN											1	0	5.18039e-06	0.00308	5.3926e-06	5	36				
KIAA1632	57724	broad.mit.edu	37	18	43467730	43467730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:43467730C>G	uc002lbm.2	-	29	5195	c.5095G>C	c.(5095-5097)GAG>CAG	p.E1699Q	KIAA1632_uc010xcq.1_Missense_Mutation_p.E253Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.E574Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1699					autophagy						0						CCCAAGATCTCAATACATGAA	0.433		NaN											0	0	0	0.007413	0	13	54				
TCEB3C	162699	broad.mit.edu	37	18	44555295	44555295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:44555295C>A	uc010xdb.1	-	1	1155	c.919G>T	c.(919-921)GAG>TAG	p.E307*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						GCAGCTTCCTCCTGGAGCGCT	0.637		NaN											1	0	3.52763e-06	0.00499	3.67509e-06	19	864				
LIPG	9388	broad.mit.edu	37	18	47101785	47101785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47101785G>C	uc002ldv.2	+	5	870	c.618G>C	c.(616-618)AAG>AAC	p.K206N	LIPG_uc002ldu.1_Missense_Mutation_p.K206N|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	206					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						ACATCCACAAGAGGCTCTCTC	0.567		NaN											0	0	0	0.010729	0	10	50				
MBD1	4152	broad.mit.edu	37	18	47799277	47799277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47799277C>G	uc010dow.1	-	14	2070	c.1633G>C	c.(1633-1635)GAG>CAG	p.E545Q	MBD1_uc002lef.2_Missense_Mutation_p.E250Q|MBD1_uc002leg.2_Missense_Mutation_p.E495Q|MBD1_uc010xdi.1_Missense_Mutation_p.E596Q|MBD1_uc002leh.3_Missense_Mutation_p.E489Q|MBD1_uc002len.2_Missense_Mutation_p.E499Q|MBD1_uc002lei.3_Missense_Mutation_p.E545Q|MBD1_uc002lej.3_Missense_Mutation_p.E443Q|MBD1_uc002lek.3_Missense_Mutation_p.E496Q|MBD1_uc002lel.3_Missense_Mutation_p.E476Q|MBD1_uc002lem.3_Missense_Mutation_p.E545Q|MBD1_uc010xdj.1_Missense_Mutation_p.E443Q|MBD1_uc010xdk.1_Missense_Mutation_p.E570Q|MBD1_uc010dox.1_Missense_Mutation_p.E476Q|MBD1_uc002leo.2_Missense_Mutation_p.E499Q	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	545	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGTCCTCCTCTGGGTCAGGT	0.582		NaN											0	0	0	0.010818	0	29	127				
NARS	4677	broad.mit.edu	37	18	55273932	55273932	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:55273932C>G	uc002lgs.2	-	10	1281	c.1053G>C	c.(1051-1053)CTG>CTC	p.L351L	NARS_uc002lgt.2_Silent_p.L350L|NARS_uc010xea.1_Silent_p.L102L	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	351					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	CCAACCGGTTCAGGAGGTCGT	0.493		NaN											0	0	0	0.004656	0	21	130				
ALPK2	115701	broad.mit.edu	37	18	56247584	56247584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:56247584C>T	uc002lhj.3	-	4	638	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	142							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGTTCCTTCTCATCAATCTGA	0.493		NaN											0	0	0	0.008871	0	14	93				
CBLN2	147381	broad.mit.edu	37	18	70205477	70205477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:70205477C>T	uc002lku.2	-	4	844	c.609G>A	c.(607-609)GAG>GAA	p.E203E	CBLN2_uc002lkv.2_Silent_p.E203E	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	203	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GGTTGCCTCTCTCAAGTTTGA	0.527		NaN											0	0	0	0.00308	0	7	76				
ZNF407	55628	broad.mit.edu	37	18	72343136	72343136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:72343136C>T	uc002llw.2	+	1	218	c.161C>T	c.(160-162)TCA>TTA	p.S54L	ZNF407_uc010xfc.1_Missense_Mutation_p.S54L|ZNF407_uc010dqu.1_Missense_Mutation_p.S54L|ZNF407_uc002llu.2_Missense_Mutation_p.S53L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAGGTTTTTCAGAATCATCG	0.413		NaN											0	0	0	0.001984	0	7	24				
GALR1	2587	broad.mit.edu	37	18	74962762	74962762	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:74962762C>G	uc002lms.3	+	1	755	c.258C>G	c.(256-258)CTC>CTG	p.L86L		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	86	Helical; Name=2; (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTACCTGCTCTTCTGCATCC	0.622		NaN											0	0	0	0.00361	0	55	200				
PALM	5064	broad.mit.edu	37	19	746781	746781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:746781G>A	uc002lpm.1	+	9	1325	c.1131G>A	c.(1129-1131)AAG>AAA	p.K377K	PALM_uc002lpn.1_Silent_p.K333K|PALM_uc010xfu.1_Silent_p.K242K	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	377					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TCGACATGAAGAAGCACCGTT	0.701		NaN											0	0	0	0.001168	0	4	25				
LPPR3	79948	broad.mit.edu	37	19	814710	814710	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:814710G>A	uc002lpx.1	-	6	703	c.639C>T	c.(637-639)TTC>TTT	p.F213F	LPPR3_uc010dru.1_Silent_p.F125F|LPPR3_uc002lpw.1_Silent_p.F213F|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	213	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0						AGACCGCGGCGAAGGCTGACA	0.697		NaN											0	0	0	0.001855	0	11	90				
SBNO2	22904	broad.mit.edu	37	19	1123979	1123979	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1123979G>A	uc002lrk.3	-	6	722	c.484C>T	c.(484-486)CTG>TTG	p.L162L	SBNO2_uc002lrj.3_Silent_p.L105L|SBNO2_uc010dse.2_Silent_p.L155L|SBNO2_uc010xgj.1_Silent_p.L105L|SBNO2_uc010dsf.2_Silent_p.L105L	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	162					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGGGCAGAAAGTCCTCG	0.657		NaN											0	0	0	0.004482	0	6	58				
APC2	10297	broad.mit.edu	37	19	1461973	1461973	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1461973G>A	uc002lsr.1	+	14	1858	c.1650G>A	c.(1648-1650)CTG>CTA	p.L550L	APC2_uc002lss.1_Silent_p.L132L|APC2_uc002lst.1_Silent_p.L550L|APC2_uc002lsu.1_Silent_p.L549L|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	550	ARM 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTGAAGAGCGTGC	0.632		NaN											0	0	0	0.008291	0	7	60				
APC2	10297	broad.mit.edu	37	19	1462069	1462069	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1462069G>T	uc002lsr.1	+	14	1954	c.1746G>T	c.(1744-1746)GTG>GTT	p.V582V	APC2_uc002lss.1_Silent_p.V164V|APC2_uc002lst.1_Silent_p.V582V|APC2_uc002lsu.1_Silent_p.V581V|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	582	ARM 4.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCTGGTGAGCACCCTGA	0.637		NaN											1	0	2.39556e-15	0.00278	2.57008e-15	18	115				
ATP8B3	148229	broad.mit.edu	37	19	1811570	1811570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1811570C>T	uc002ltw.2	-	2	400	c.166G>A	c.(166-168)GAC>AAC	p.D56N	ATP8B3_uc002ltv.2_Missense_Mutation_p.D3N|ATP8B3_uc002ltx.2_Intron|ATP8B3_uc002ltz.1_Missense_Mutation_p.D3N	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	56	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGAGTCTCCCATCCCA	0.637		NaN											0	0	0	0.004482	0	3	57				
DOT1L	84444	broad.mit.edu	37	19	2222186	2222186	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2222186C>G	uc002lvb.3	+	24	3054	c.3018C>G	c.(3016-3018)CTC>CTG	p.L1006L	DOT1L_uc002lvc.1_Silent_p.L300L|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1006						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAGCTCTCCTCCAGTC	0.697		NaN											0	0	0	0.002299	0	19	125				
ZNF556	80032	broad.mit.edu	37	19	2876263	2876263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2876263G>A	uc002lwp.1	+	3	390	c.303G>A	c.(301-303)GAG>GAA	p.E101E	ZNF556_uc002lwq.2_Silent_p.E101E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCAAGGAGAGACATTTGA	0.264		NaN											0	0	0	0.00245	0	14	79				
TLE2	7089	broad.mit.edu	37	19	3017853	3017853	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3017853C>T	uc002lww.2	-	8	818	c.555G>A	c.(553-555)GAG>GAA	p.E185E	TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Silent_p.E186E|TLE2_uc010xhc.1_Intron|TLE2_uc010dti.2_Silent_p.E199E|TLE2_uc010xhd.1_Intron	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	185	Gly/Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGCTCTCTCCACTGACA	0.522		NaN											0	0	0	0.001984	0	6	48				
TLE2	7089	broad.mit.edu	37	19	3019709	3019709	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3019709G>C	uc002lww.2	-	6	620	c.357C>G	c.(355-357)AAC>AAG	p.N119K	TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.N119K|TLE2_uc010xhc.1_Missense_Mutation_p.N64K|TLE2_uc010dti.2_Missense_Mutation_p.N132K|TLE2_uc010xhd.1_Intron	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	119	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGAGGCTGTTCAGCTCCC	0.647		NaN											0	0	0	0.006214	0	9	43				
CREB3L3	84699	broad.mit.edu	37	19	4154998	4154998	+	Missense_Mutation	SNP	G	G	A	rs143652660		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4154998G>A	uc002lzl.2	+	2	246	c.130G>A	c.(130-132)GAG>AAG	p.E44K	CREB3L3_uc002lzm.2_Missense_Mutation_p.E35K|CREB3L3_uc010xib.1_Missense_Mutation_p.E35K|CREB3L3_uc010xic.1_Missense_Mutation_p.E35K	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	44	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGGGCGAGGGCTGGGG	0.642		NaN											0	0	0	0.004289	0	28	181				
MPND	84954	broad.mit.edu	37	19	4345945	4345945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4345945C>G	uc002mae.2	+	3	565	c.498C>G	c.(496-498)CAC>CAG	p.H166Q	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.H166Q|MPND_uc002maf.2_Missense_Mutation_p.H166Q|MPND_uc002mah.2_Missense_Mutation_p.H54Q|MPND_uc002mai.2_Missense_Mutation_p.H54Q	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	166							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGCTGCACCAGCTGCACA	0.632		NaN											0	0	0	0.004672	0	3	34				
UBXN6	80700	broad.mit.edu	37	19	4446589	4446589	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4446589G>C	uc002man.1	-	8	924	c.828C>G	c.(826-828)GTC>GTG	p.V276V	UBXN6_uc010dty.1_Silent_p.V180V|UBXN6_uc002mam.1_Silent_p.V223V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	276						microtubule organizing center|nucleus	protein binding				0						AGGGCTGGAAGACGCGGCGCT	0.672		NaN											0	0	0	0.00245	0	11	111				
LRG1	116844	broad.mit.edu	37	19	4538477	4538477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4538477C>T	uc002mau.2	-	2	530	c.519G>A	c.(517-519)GGG>GGA	p.G173G	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	173	LRR 4.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGTTCCCAGACAGGT	0.622		NaN											0	0	0	0.010771	0	34	218				
INSR	3643	broad.mit.edu	37	19	7166277	7166277	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7166277G>C	uc002mgd.1	-	8	1858	c.1749C>G	c.(1747-1749)CTC>CTG	p.L583L	INSR_uc002mge.1_Silent_p.L583L|INSR_uc002mgf.2_Silent_p.L583L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	583					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAGGGCTTGAGACCCCGCA	0.557		NaN											0	0	0	0.004482	0	8	70				
ARHGEF18	23370	broad.mit.edu	37	19	7523533	7523533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7523533G>A	uc002mgi.2	+	9	2006	c.1753G>A	c.(1753-1755)GAC>AAC	p.D585N	ARHGEF18_uc010xjm.1_Missense_Mutation_p.D427N|ARHGEF18_uc002mgh.2_Missense_Mutation_p.D427N|ARHGEF18_uc002mgj.1_Missense_Mutation_p.D228N	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	585	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CTCCAAAGAGGACAGGAACGC	0.582		NaN											0	0	0	0.006214	0	8	46				
LRRC8E	80131	broad.mit.edu	37	19	7960596	7960596	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7960596C>G	uc002mir.2	+	2	209	c.108C>G	c.(106-108)CTC>CTG	p.L36L		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	36	Helical; (Potential).					integral to membrane				lung(1)|pancreas(1)	2						TGGCCATGCTCATGATTGGGG	0.642		NaN											0	0	0	0.004007	0	14	117				
FBN3	84467	broad.mit.edu	37	19	8175799	8175799	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8175799G>A	uc002mjf.2	-	33	4284	c.4263C>T	c.(4261-4263)AAC>AAT	p.N1421N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1421	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTCCAGGCAGGTTCTCACAGC	0.622		NaN											0	0	0	0.00874	0	38	205				
ANGPTL4	51129	broad.mit.edu	37	19	8438619	8438619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8438619C>G	uc002mjq.1	+	7	1265	c.1070C>G	c.(1069-1071)TCC>TGC	p.S357C	ANGPTL4_uc002mjr.1_Missense_Mutation_p.S319C|ANGPTL4_uc010xkc.1_Missense_Mutation_p.S190C	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	357	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						TGCAGCCATTCCAACCTCAAC	0.607		NaN											0	0	0	0.00361	0	66	501				
ADAMTS10	81794	broad.mit.edu	37	19	8661945	8661945	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8661945C>T	uc002mkj.1	-	8	1240	c.966G>A	c.(964-966)GTG>GTA	p.V322V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CGCTGTGGTTCACGATGGATT	0.572		NaN											0	0	0	0.00499	0	15	155				
MUC16	94025	broad.mit.edu	37	19	9002669	9002669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9002669C>T	uc002mkp.2	-	51	40351	c.40147G>A	c.(40147-40149)GAG>AAG	p.E13383K	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E200K|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13385	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCATCCTTCTCAGGCCTAGGG	0.547		NaN											0	0	0	0.001168	0	5	37				
MUC16	94025	broad.mit.edu	37	19	9062124	9062124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9062124G>T	uc002mkp.2	-	3	25526	c.25322C>A	c.(25321-25323)CCC>CAC	p.P8441H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8443	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGCACCACTGGGCACTTCAGA	0.522		NaN											1	0	3.27435e-08	0.00245	3.44725e-08	14	71				
MUC16	94025	broad.mit.edu	37	19	9091500	9091500	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9091500C>T	uc002mkp.2	-	1	519	c.315G>A	c.(313-315)CTG>CTA	p.L105L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	105	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTGGGGACTCAGCGATGGGC	0.537		NaN											0	0	0	0.002299	0	22	130				
ZNF846	162993	broad.mit.edu	37	19	9873968	9873968	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9873968G>A	uc002mmb.1	-	3	663	c.132C>T	c.(130-132)CTC>CTT	p.L44L	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTAGTATAATGAGATTCTTGT	0.408		NaN											0	0	0	0.010729	0	8	61				
OLFM2	93145	broad.mit.edu	37	19	9967498	9967498	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9967498G>A	uc002mmp.2	-	5	700	c.672C>T	c.(670-672)CCC>CCT	p.P224P	OLFM2_uc002mmo.2_Silent_p.P146P	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	224	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						TATCCGCACTGGGGGCCATCG	0.662		NaN											0	0	0	0.00245	0	10	53				
PDE4A	5141	broad.mit.edu	37	19	10577958	10577959	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:10577958_10577959GG>TA	uc002moj.2	+	15	2430_2431	c.2322_2323GG>TA	c.(2320-2325)CTGGAG>CTTAAG	p.E775K	PDE4A_uc002mok.2_Missense_Mutation_p.E749K|PDE4A_uc002mol.2_Missense_Mutation_p.E714K|PDE4A_uc002mom.2_Missense_Mutation_p.E536K|PDE4A_uc002mon.2_Missense_Mutation_p.E230K|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	775					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGCCGAGCTGGAGGCAGTGTA	0.594		NaN											0	0	0	0.004672	0	19	165				
KANK2	25959	broad.mit.edu	37	19	11286644	11286644	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11286644G>A	uc010dxv.2	-	10	2340	c.1782C>T	c.(1780-1782)CTC>CTT	p.L594L	KANK2_uc002mqm.2_Silent_p.L602L|KANK2_uc002mqo.3_Silent_p.L594L|KANK2_uc002mqp.1_Silent_p.L403L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	594											0						AGGCTGAGATGAGGTCAGGGC	0.607		NaN											0	0	0	0.006122	0	14	152				
RAB3D	9545	broad.mit.edu	37	19	11448060	11448060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11448060C>T	uc002mqy.2	-	2	254	c.16G>A	c.(16-18)GAC>AAC	p.D6N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	6					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						GCCTGGGTGTCTCCAGCTGAT	0.498		NaN											0	0	0	0.00278	0	22	170				
ZNF564	163050	broad.mit.edu	37	19	12639430	12639430	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12639430G>C	uc002mty.2	-	2	294	c.84C>G	c.(82-84)CTC>CTG	p.L28L	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATCTCTGTAGAGTTTCTTCT	0.453		NaN											0	0	0	0.010729	0	10	79				
ZNF791	163049	broad.mit.edu	37	19	12739580	12739580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12739580G>T	uc002mua.2	+	4	1399	c.1237G>T	c.(1237-1239)GAG>TAG	p.E413*	ZNF791_uc010xml.1_Nonsense_Mutation_p.E381*|ZNF791_uc010dyu.1_Nonsense_Mutation_p.E304*|ZNF791_uc010xmm.1_Nonsense_Mutation_p.E304*	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	413	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAACCCTATGAGTGTAAGGA	0.393		NaN											1	0	0.00448238	0.004482	0.00457775	7	75				
ZNF791	163049	broad.mit.edu	37	19	12740000	12740000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12740000G>A	uc002mua.2	+	4	1819	c.1657G>A	c.(1657-1659)GAA>AAA	p.E553K	ZNF791_uc010xml.1_Missense_Mutation_p.E521K|ZNF791_uc010dyu.1_Missense_Mutation_p.E444K|ZNF791_uc010xmm.1_Missense_Mutation_p.E444K	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	553	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAAACCTCTTGAATGTAAGCA	0.353		NaN											0	0	0	0.004007	0	13	46				
MAST1	22983	broad.mit.edu	37	19	12969528	12969528	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12969528C>T	uc002mvm.2	+	12	1469	c.1341C>T	c.(1339-1341)CTC>CTT	p.L447L	MAST1_uc002mvk.2_Silent_p.L443L	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	447	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GGCGCCACCTCTGCATGGTCA	0.622		NaN											0	0	0	0.00499	0	12	69				
GCDH	2639	broad.mit.edu	37	19	13007041	13007041	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13007041G>A	uc002mvq.2	+	8	735	c.658G>A	c.(658-660)GAT>AAT	p.D220N	GCDH_uc010xms.1_Missense_Mutation_p.D187N|GCDH_uc002mvp.2_Missense_Mutation_p.D220N|GCDH_uc010xmt.1_Intron|GCDH_uc010xmu.1_Missense_Mutation_p.D176N	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	220					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GCCTATGGCCGATCTGTTTGT	0.622		NaN											0	0	0	0.011902	0	38	182				
CALR	811	broad.mit.edu	37	19	13054368	13054368	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13054368C>T	uc002mvu.2	+	8	1058	c.978C>T	c.(976-978)ATC>ATT	p.I326I	CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	326	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCACCATCTTTGACAACT	0.527		NaN											0	0	0	0.00499	0	15	106				
RAD23A	5886	broad.mit.edu	37	19	13059132	13059132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13059132G>C	uc002mvw.1	+	3	485	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	RAD23A_uc002mvx.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvz.1_Missense_Mutation_p.E126Q|RAD23A_uc002mwa.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	126					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GAGCCCATCAGAGGAATCCGC	0.652		NaN						NER					0	0	0	0.008291	0	6	106				
OR10H3	26532	broad.mit.edu	37	19	15853149	15853149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:15853149C>G	uc010xoq.1	+	1	947	c.947C>G	c.(946-948)TCC>TGC	p.S316C		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTCTAAGCTCCTAATGGCCA	0.299		NaN											0	0	0	0.009096	0	4	32				
FCHO1	23149	broad.mit.edu	37	19	17883460	17883460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:17883460G>A	uc010ebb.2	+	10	889	c.700G>A	c.(700-702)GAG>AAG	p.E234K	FCHO1_uc002nhg.3_Missense_Mutation_p.E234K|FCHO1_uc002nhh.2_Missense_Mutation_p.E234K|FCHO1_uc010xpw.1_Missense_Mutation_p.E184K|FCHO1_uc010ebc.1_Missense_Mutation_p.E241K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	234										breast(1)	1						ACAGGTGCATGAGGAATTTAA	0.587		NaN											0	0	0	0.012319	0	18	115				
JUND	3727	broad.mit.edu	37	19	18391519	18391519	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18391519G>C	uc002nip.2	-	1	914	c.776C>G	c.(775-777)TCG>TGG	p.S259W	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	259					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						GTCGATGGGCGACAACGGCGG	0.721		NaN											0	0	0	0.003163	0	6	38				
LRRC25	126364	broad.mit.edu	37	19	18507660	18507660	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18507660G>A	uc002niw.2	-	1	756	c.114C>T	c.(112-114)TTC>TTT	p.F38F	LRRC25_uc002nix.2_Silent_p.F38F	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	38	Extracellular (Potential).					integral to membrane					0						ACGTGGCACTGAACTCCGCGT	0.617		NaN											0	0	0	0.003163	0	15	79				
ELL	8178	broad.mit.edu	37	19	18632761	18632761	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18632761C>T	uc002njh.2	-	1	177	c.105G>A	c.(103-105)CTG>CTA	p.L35L	ELL_uc010ebq.2_5'UTR	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	35					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGAAGGCCCTCAGGGCACTGT	0.701		NaN	T	MLL	AL								0	0	0	0.00308	0	6	24				
UBA52	7311	broad.mit.edu	37	19	18684188	18684188	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18684188C>G	uc002njr.2	+	2	192	c.78C>G	c.(76-78)GTC>GTG	p.V26V	UBA52_uc002njs.2_Silent_p.V26V|UBA52_uc002njt.2_Silent_p.V26V	NM_001033930	NP_001029102	P62987	RL40_HUMAN	ubiquitin and ribosomal protein L40 precursor	26	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0						TTGAGAATGTCAAAGCCAAAA	0.552		NaN											0	0	0	0.008291	0	8	47				
DDX49	54555	broad.mit.edu	37	19	19033503	19033503	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:19033503C>T	uc002nkq.1	+	6	783	c.726C>T	c.(724-726)TTC>TTT	p.F242F	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Silent_p.F135F|DDX49_uc002nkt.1_Silent_p.F124F	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	242	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			TCCAGCGCTTCCAGGATGAGC	0.627		NaN											0	0	0	0.002299	0	19	143				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:22155896A>C	uc002nqp.2	-	5	1789	c.1640T>G	c.(1639-1641)ATT>AGT	p.I547S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398		NaN											0	0	0	0.000602	0	3	56				
C19orf2	8725	broad.mit.edu	37	19	30505917	30505917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:30505917G>A	uc002nsr.2	+	11	1579	c.1549G>A	c.(1549-1551)GAA>AAA	p.E517K	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.E477K|C19orf2_uc002nst.2_Missense_Mutation_p.E441K	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	517					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGCATCTGAAGAAACTGG	0.433		NaN											0	0	0	0.010729	0	9	60				
ANKRD27	84079	broad.mit.edu	37	19	33135288	33135288	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:33135288G>A	uc002ntn.1	-	5	624	c.468C>T	c.(466-468)ATC>ATT	p.I156I	ANKRD27_uc002nto.1_Silent_p.I156I	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	156					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GGAAAGAGGCGATGTTCCTGT	0.532		NaN											0	0	0	0.00361	0	74	281				
ZNF792	126375	broad.mit.edu	37	19	35449696	35449696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35449696G>A	uc002nxh.1	-	4	1450	c.1063C>T	c.(1063-1065)CAG>TAG	p.Q355*		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	355	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCTTATGCTGAATGAGGTTG	0.507		NaN											0	0	0	0.001855	0	12	48				
LGI4	163175	broad.mit.edu	37	19	35625566	35625566	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35625566G>T	uc002nxx.2	-	1	613	c.19C>A	c.(19-21)CTG>ATG	p.L7M	LGI4_uc002nxy.1_Intron|LGI4_uc002nxz.1_5'Flank|LGI4_uc002nya.2_Missense_Mutation_p.L7M	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	7						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCAGCAGCAGAATGCCTGCC	0.687		NaN											1	0	0.00198382	0.001984	0.00202762	6	37				
MLL4	9757	broad.mit.edu	37	19	36219890	36219890	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36219890C>T	uc010eei.2	+	22	4692	c.4692C>T	c.(4690-4692)TTC>TTT	p.F1564F		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1564					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCAGCATTCCAGGGCAAGG	0.602		NaN											0	0	0	0.007413	0	16	151				
THAP8	199745	broad.mit.edu	37	19	36545042	36545042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36545042G>C	uc002oda.1	-	1	623	c.78C>G	c.(76-78)TTC>TTG	p.F26L	WDR62_uc002odd.2_5'Flank|WDR62_uc002odc.2_5'Flank|THAP8_uc010xtb.1_Intron|THAP8_uc010xtc.1_RNA|WDR62_uc010eer.2_5'Flank|WDR62_uc002odb.2_5'Flank	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	THAP domain containing 8	26	THAP-type.						DNA binding|metal ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACTTGTAGAAGCTCACAG	0.672		NaN											0	0	0	0.006214	0	8	58				
ZNF260	339324	broad.mit.edu	37	19	37005801	37005801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37005801C>T	uc002oee.1	-	4	1184	c.340G>A	c.(340-342)GAA>AAA	p.E114K	ZNF260_uc002oed.1_Missense_Mutation_p.E111K|ZNF260_uc010eey.1_Missense_Mutation_p.E111K|ZNF260_uc002oef.1_Missense_Mutation_p.E111K	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	114					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GAAACTTTTTCACATTCATAA	0.388		NaN											0	0	0	0.001855	0	13	60				
ZNF529	57711	broad.mit.edu	37	19	37038544	37038544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37038544C>T	uc002oeh.3	-	5	1118	c.916G>A	c.(916-918)GAT>AAT	p.D306N	ZNF529_uc010xth.1_Missense_Mutation_p.D306N|ZNF529_uc010xti.1_Missense_Mutation_p.D288N|ZNF529_uc002oeg.3_Missense_Mutation_p.D201N	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					GTTTTCTCATCAGTATGGATT	0.388		NaN											0	0	0	0.001855	0	13	57				
ZNF607	84775	broad.mit.edu	37	19	38190626	38190626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38190626G>A	uc002ohc.1	-	5	1002	c.406C>T	c.(406-408)CAT>TAT	p.H136Y	ZNF607_uc002ohb.1_Missense_Mutation_p.H135Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	136	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCACTAGTATGAATTGTTTGA	0.373		NaN											0	0	0	0.00245	0	11	83				
SIPA1L3	23094	broad.mit.edu	37	19	38692599	38692599	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38692599G>T	uc002ohk.2	+	20	5591	c.5082G>T	c.(5080-5082)GAG>GAT	p.E1694D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1694					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAGCCTGGAGAGGGGACCCC	0.647		NaN											1	0	1.33834e-09	0.007413	1.41591e-09	14	136				
CATSPERG	57828	broad.mit.edu	37	19	38860798	38860798	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38860798G>A	uc002oih.3	+	28	3201	c.3114_splice	c.e28-1	p.R1038_splice	CATSPERG_uc002oig.3_Splice_Site_p.R998_splice|CATSPERG_uc002oif.3_Splice_Site_p.R678_splice|CATSPERG_uc010efw.2_Splice_Site	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						AACCCCTGCAGAGGAGTGGAC	0.607		NaN											0	0	0	0.00333	0	21	79				
EIF3K	27335	broad.mit.edu	37	19	39114742	39114742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39114742C>T	uc002oiz.1	+	3	371	c.184C>T	c.(184-186)CAG>TAG	p.Q62*	EIF3K_uc010xuh.1_Nonsense_Mutation_p.Q62*|EIF3K_uc010xui.1_5'UTR	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	62					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCTTCTTTCAGACCACGGT	0.562		NaN											0	0	0	0.001855	0	10	115				
LGALS4	3960	broad.mit.edu	37	19	39292471	39292471	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39292471G>A	uc002ojg.2	-	10	1119	c.905C>T	c.(904-906)TCG>TTG	p.S302L		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	302	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGGAAGGCCGAGAGGCGATG	0.532		NaN											0	0	0	0.001855	0	11	85				
PAF1	54623	broad.mit.edu	37	19	39879228	39879228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879228C>T	uc002old.2	-	10	1004	c.829G>A	c.(829-831)GAG>AAG	p.E277K	PAF1_uc002ole.1_Missense_Mutation_p.E267K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	277					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCATCTCCTCCTCCTGGTCC	0.522		NaN											0	0	0	0.008361	0	29	94				
PAF1	54623	broad.mit.edu	37	19	39879261	39879261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879261C>T	uc002old.2	-	10	971	c.796G>A	c.(796-798)GAG>AAG	p.E266K	PAF1_uc002ole.1_Missense_Mutation_p.E256K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	266					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCAACGTCTCTTCTACAGGC	0.512		NaN											0	0	0	0.00499	0	16	68				
DMRTC2	63946	broad.mit.edu	37	19	42354706	42354706	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42354706T>C	uc002ors.2	+	8	1012	c.929T>C	c.(928-930)GTG>GCG	p.V310A	DMRTC2_uc002orr.1_Missense_Mutation_p.V238A|DMRTC2_uc010xwe.1_Missense_Mutation_p.V361A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	310	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCTCCTCGTGTGACCCCTTCT	0.632		NaN											0	0	0	0.003954	0	21	74				
GRIK5	2901	broad.mit.edu	37	19	42509942	42509942	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42509942G>A	uc002osj.1	-	16	2231	c.2196C>T	c.(2194-2196)CTC>CTT	p.L732L	GRIK5_uc002osi.1_Silent_p.L304L	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	732	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGTTGCAGTTGAGGCGCCGGT	0.622		NaN											0	0	0	0.001984	0	6	50				
ZNF526	116115	broad.mit.edu	37	19	42728868	42728868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42728868G>A	uc002osz.1	+	3	469	c.313G>A	c.(313-315)GAG>AAG	p.E105K		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				GCCGGGTGCTGAGGGGCCCTT	0.622		NaN											0	0	0	0.001368	0	10	137				
CIC	23152	broad.mit.edu	37	19	42798383	42798383	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42798383C>A	uc002otf.1	+	18	4294	c.4254C>A	c.(4252-4254)TCC>TCA	p.S1418S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GAAGACGCTCCAGCTGCAGCT	0.617		NaN	T	DUX4	soft tissue sarcoma								1	0	2.24893e-16	0.009718	2.41676e-16	39	127				
CD177	57126	broad.mit.edu	37	19	43864482	43864482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:43864482G>A	uc002owi.2	+	6	727	c.685G>A	c.(685-687)GAT>AAT	p.D229N	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	229					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				AGAACCCACTGATTGGACCAC	0.542		NaN											0	0	0	0.001168	0	5	29				
PLAUR	5329	broad.mit.edu	37	19	44160637	44160637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44160637C>T	uc002oxf.1	-	4	696	c.466G>A	c.(466-468)GAA>AAA	p.E156K	PLAUR_uc002oxd.1_Missense_Mutation_p.E156K|PLAUR_uc002oxe.1_Missense_Mutation_p.E151K|PLAUR_uc002oxg.1_Missense_Mutation_p.E156K	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	156	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCACCTTCTTCACCTTCCTGG	0.478		NaN											0	0	0	0.00874	0	37	295				
ZNF221	7638	broad.mit.edu	37	19	44470216	44470216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44470216C>T	uc002oxx.2	+	6	890	c.562C>T	c.(562-564)CAT>TAT	p.H188Y	ZNF221_uc010ejb.1_Missense_Mutation_p.H188Y|ZNF221_uc010xws.1_Missense_Mutation_p.H188Y	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	188	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				CTTTGATCTTCATCAACAATC	0.408		NaN											0	0	0	0.009535	0	25	88				
ZFP112	7771	broad.mit.edu	37	19	44832181	44832181	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44832181G>A	uc010ejj.2	-	5	2260	c.2147C>T	c.(2146-2148)TCT>TTT	p.S716F	ZFP112_uc002ozc.3_Missense_Mutation_p.S710F|ZFP112_uc010xwy.1_Missense_Mutation_p.S733F|ZFP112_uc010xwz.1_Missense_Mutation_p.S715F	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TCTTTCTCCAGAATGGACACT	0.453		NaN											0	0	0	0.006214	0	7	44				
CBLC	23624	broad.mit.edu	37	19	45287647	45287647	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45287647G>A	uc002ozs.2	+	5	969	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	CBLC_uc010ejt.2_Intron	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	302	SH2-like.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGGAGGGACAGAAGGACGGCT	0.483		NaN	M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	21	98				
CLPTM1	1209	broad.mit.edu	37	19	45490661	45490661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45490661G>A	uc002pai.2	+	8	1033	c.1018G>A	c.(1018-1020)GAG>AAG	p.E340K	CLPTM1_uc010ejv.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxf.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxg.1_Missense_Mutation_p.E326K	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	340	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCAGTCAGATGAGGAGCAGGA	0.632		NaN											0	0	0	0.004007	0	10	84				
GPR4	2828	broad.mit.edu	37	19	46094942	46094942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094942G>C	uc002pcm.2	-	2	1128	c.183C>G	c.(181-183)ATC>ATG	p.I61M	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	61	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGTCGGCGATGCTGAGGT	0.647		NaN											0	0	0	0.003163	0	13	176				
GPR4	2828	broad.mit.edu	37	19	46094948	46094948	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094948G>A	uc002pcm.2	-	2	1122	c.177C>T	c.(175-177)CTC>CTT	p.L59L	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	59	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGGCGATGCTGAGGTTCATCA	0.642		NaN											0	0	0	0.001368	0	9	175				
GIPR	2696	broad.mit.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46174547C>T	uc002pcu.1	+	4	276	c.177C>T	c.(175-177)CTC>CTT	p.L59L	GIPR_uc002pct.1_Silent_p.L59L|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667		NaN											0	0	0	0.004656	0	24	185				
EHD2	30846	broad.mit.edu	37	19	48244378	48244378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48244378G>A	uc002phj.3	+	6	1571	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K	EHD2_uc010xyu.1_Missense_Mutation_p.E305K|EHD2_uc010xyv.1_Missense_Mutation_p.E124K	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	441					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTCGGACGACGAGGCCGAGTG	0.657		NaN											0	0	0	0.004007	0	12	89				
PPFIA3	8541	broad.mit.edu	37	19	49652018	49652018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49652018G>A	uc002pmr.2	+	25	3439	c.3107G>A	c.(3106-3108)CGA>CAA	p.R1036Q	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R895Q|PPFIA3_uc002pmt.2_Missense_Mutation_p.R175Q|PPFIA3_uc002pmu.1_Missense_Mutation_p.R85Q	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	1036	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCAGATCCGAGGTGAGTAG	0.587		NaN											0	0	0	0.001168	0	5	45				
CD37	951	broad.mit.edu	37	19	49840236	49840236	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49840236C>T	uc002pnd.2	+	3	334	c.213C>T	c.(211-213)ATC>ATT	p.I71I	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.I71I|CD37_uc010yan.1_Silent_p.I3I|CD37_uc002pnf.3_Silent_p.I43I|CD37_uc002pne.2_Silent_p.I3I	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	71	Helical; (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCATGGGCATCGCCCTCCTGG	0.617		NaN											0	0	0	0.00499	0	16	63				
NUP62	23636	broad.mit.edu	37	19	50413062	50413062	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:50413062C>T	uc002pqx.2	-	2	107	c.3G>A	c.(1-3)ATG>ATA	p.M1I	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.M1I|NUP62_uc002pqz.2_Missense_Mutation_p.M1I|NUP62_uc002pra.2_Missense_Mutation_p.M1I|NUP62_uc002prb.2_Missense_Mutation_p.M1I|NUP62_uc002prc.2_Missense_Mutation_p.M1I	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	1	15 X 9 AA approximate repeats.|1.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAAACCCGCTCATGGCTCCGG	0.547		NaN											0	0	0	0.001368	0	7	58				
ETFB	2109	broad.mit.edu	37	19	51848565	51848565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:51848565G>A	uc002pwh.2	-	6	760	c.668C>T	c.(667-669)TCT>TTT	p.S223F	ETFB_uc002pwg.2_Missense_Mutation_p.S314F	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	223					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACTGATCACAGAGAGCTTGGA	0.592		NaN											0	0	0	0.010729	0	11	88				
ZNF808	388558	broad.mit.edu	37	19	53056414	53056414	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53056414G>C	uc010epq.1	+	5	422	c.245G>C	c.(244-246)AGA>ACA	p.R82T	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGGCAATAGAGAAGTGATC	0.363		NaN											0	0	0	0.003954	0	23	163				
ZNF600	162966	broad.mit.edu	37	19	53270485	53270485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53270485G>A	uc002qab.3	-	3	810	c.524C>T	c.(523-525)TCA>TTA	p.S175L		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	175	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCTTAAGAGTGAGCTACAATT	0.373		NaN											0	0	0	0.006122	0	15	74				
ZNF160	90338	broad.mit.edu	37	19	53572607	53572607	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53572607C>G	uc010eqk.2	-	7	1596	c.1180G>C	c.(1180-1182)GAG>CAG	p.E394Q	ZNF160_uc002qaq.3_Missense_Mutation_p.E394Q|ZNF160_uc002qar.3_Missense_Mutation_p.E394Q	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	394					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		TAAGGTTTCTCTCCAGTGTGA	0.398		NaN											0	0	0	0.001855	0	13	149				
ZNF347	84671	broad.mit.edu	37	19	53643596	53643596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53643596C>G	uc002qbb.1	-	5	2554	c.2485G>C	c.(2485-2487)GAG>CAG	p.E829Q	ZNF347_uc010eql.1_Missense_Mutation_p.E830Q|ZNF347_uc002qbc.1_Missense_Mutation_p.E830Q	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		GGTTTGAACTCTGACTTTAGA	0.398		NaN											0	0	0	0.003755	0	29	112				
MBOAT7	79143	broad.mit.edu	37	19	54692090	54692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54692090G>A	uc002qdq.2	-	4	453	c.187C>T	c.(187-189)CTC>TTC	p.L63F	MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.L45F|MBOAT7_uc002qdr.2_Missense_Mutation_p.L63F|MBOAT7_uc002qds.2_Missense_Mutation_p.P32L|MBOAT7_uc010yen.1_Missense_Mutation_p.P32L|MBOAT7_uc002qdt.3_Missense_Mutation_p.L63F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	63	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTGAATGAGGGCCCAGGTC	0.602		NaN											0	0	0	0.001368	0	10	158				
TTYH1	57348	broad.mit.edu	37	19	54942276	54942276	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54942276G>A	uc002qfq.2	+	10	1125	c.1033_splice	c.e10-1	p.K345_splice	TTYH1_uc010yey.1_Splice_Site_p.E375_splice|TTYH1_uc002qfr.2_Splice_Site_p.K345_splice|TTYH1_uc002qft.2_Splice_Site_p.K345_splice|TTYH1_uc002qfu.1_Splice_Site_p.K257_splice	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1						cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCGCCCCGCAGAAGCCTCTGC	0.403		NaN											0	0	0	0.008361	0	22	104				
LILRB1	10859	broad.mit.edu	37	19	55143036	55143036	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55143036C>G	uc002qgj.2	+	5	496	c.156C>G	c.(154-156)GGC>GGG	p.G52G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.G52G|LILRB1_uc002qgk.2_Silent_p.G52G|LILRB1_uc002qgm.2_Silent_p.G52G|LILRB1_uc010erq.2_Silent_p.G52G|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	52	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GTCAGGGGGGCCAGGAGACCC	0.577		NaN								HNSCC(37;0.09)			0	0	0	0.004672	0	3	113				
KIR2DL1	3802	broad.mit.edu	37	19	55286739	55286739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55286739G>A	uc002qhb.1	+	4	531	c.493G>A	c.(493-495)GAG>AAG	p.E165K	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.E165K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	165	Extracellular (Potential).|Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGAAGGGGAGGCCCATGA	0.612		NaN											0	0	0	0.00632	0	23	54				
NLRP7	199713	broad.mit.edu	37	19	55452917	55452917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55452917C>T	uc002qih.3	-	2	239	c.163G>A	c.(163-165)GCA>ACA	p.A55T	NLRP7_uc002qig.3_Missense_Mutation_p.A55T|NLRP7_uc002qii.3_Missense_Mutation_p.A55T|NLRP7_uc010esk.2_Missense_Mutation_p.A55T|NLRP7_uc010esl.2_Missense_Mutation_p.A83T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	55	DAPIN.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGAATTTCTGCCAGTTTCTTG	0.443		NaN											0	0	0	0.000602	0	3	70				
NLRP7	199713	broad.mit.edu	37	19	55453052	55453052	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55453052G>A	uc002qih.3	-	2	104	c.28C>T	c.(28-30)CTG>TTG	p.L10L	NLRP7_uc002qig.3_Silent_p.L10L|NLRP7_uc002qii.3_Silent_p.L10L|NLRP7_uc010esk.2_Silent_p.L10L|NLRP7_uc010esl.2_Silent_p.L38L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	10	DAPIN.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGGGTCTGCAGAGTCCACTCT	0.483		NaN											0	0	0	0.001984	0	5	36				
SYT5	6861	broad.mit.edu	37	19	55686641	55686641	+	Missense_Mutation	SNP	G	G	A	rs141073446		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55686641G>A	uc002qjm.1	-	5	1667	c.607C>T	c.(607-609)CGC>TGC	p.R203C	SYT5_uc002qjp.2_Missense_Mutation_p.R200C|SYT5_uc002qjn.1_Missense_Mutation_p.R203C|SYT5_uc002qjo.1_Missense_Mutation_p.R203C	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	203	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGTCATTGCGAGAGAAGCGG	0.677		NaN											0	0	0	0.000602	0	3	41				
NLRP11	204801	broad.mit.edu	37	19	56329303	56329303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56329303C>G	uc010ygf.1	-	4	949	c.238G>C	c.(238-240)GAT>CAT	p.D80H	NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	80	DAPIN.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTACAAAGATCTTCCTTACGC	0.463		NaN											0	0	0	0.004482	0	8	84				
NLRP4	147945	broad.mit.edu	37	19	56382323	56382323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56382323G>A	uc002qmd.3	+	7	2907	c.2485G>A	c.(2485-2487)GAG>AAG	p.E829K	NLRP4_uc002qmf.2_Missense_Mutation_p.E754K|NLRP4_uc010etf.2_Missense_Mutation_p.E604K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	829	LRR 5.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACTCTCTGCGAGGCCTTGAA	0.498		NaN											0	0	0	0.001368	0	9	86				
GALP	85569	broad.mit.edu	37	19	56688513	56688513	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56688513C>T	uc002qmo.1	+	2	118	c.36C>T	c.(34-36)CTC>CTT	p.L12L	GALP_uc010eti.2_Silent_p.L12L	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	12					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCCTCCTCCTCGTCCTCTTGC	0.622		NaN											0	0	0	0.001168	0	5	49				
ZNF582	147948	broad.mit.edu	37	19	56895501	56895501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56895501C>T	uc002qmz.1	-	5	1444	c.1285G>A	c.(1285-1287)GGG>AGG	p.G429R	ZNF582_uc002qmy.2_Missense_Mutation_p.G460R	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	429	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AAAGCCTTCCCACATTCCTTA	0.393		NaN											0	0	0	0.000602	0	5	49				
USP29	57663	broad.mit.edu	37	19	57640824	57640824	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640824G>C	uc002qny.2	+	4	1137	c.781G>C	c.(781-783)GAG>CAG	p.E261Q		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	261					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGGAACCAGAGCACAGCCA	0.478		NaN											0	0	0	0.000602	0	4	74				
USP29	57663	broad.mit.edu	37	19	57640872	57640872	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640872G>A	uc002qny.2	+	4	1185	c.829G>A	c.(829-831)GAC>AAC	p.D277N		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	277					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.D277E(1)		lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCTTGACTCTCATTC	0.473		NaN											0	0	0	0.000602	0	5	30				
USP29	57663	broad.mit.edu	37	19	57641088	57641088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641088G>A	uc002qny.2	+	4	1401	c.1045G>A	c.(1045-1047)GAA>AAA	p.E349K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	349					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATCAAGAGAGAATTACTTGG	0.378		NaN											0	0	0	0.001168	0	5	69				
USP29	57663	broad.mit.edu	37	19	57641253	57641253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641253G>A	uc002qny.2	+	4	1566	c.1210G>A	c.(1210-1212)GAA>AAA	p.E404K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	404					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGGATGAAAATTCATC	0.393		NaN											0	0	0	0.001168	0	6	63				
ZNF264	9422	broad.mit.edu	37	19	57723168	57723168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57723168G>C	uc002qob.2	+	4	1116	c.703G>C	c.(703-705)GAA>CAA	p.E235Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	235	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGAATGCACAGAATGTGGGAA	0.428		NaN											0	0	0	0.008291	0	9	77				
ZNF530	348327	broad.mit.edu	37	19	58117277	58117277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58117277G>A	uc002qpk.2	+	3	604	c.384G>A	c.(382-384)TGG>TGA	p.W128*	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGATTTCTGGATGAGTTCAA	0.458		NaN											0	0	0	0.003163	0	14	35				
ZNF606	80095	broad.mit.edu	37	19	58490857	58490857	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58490857C>G	uc002qqw.2	-	7	1809	c.1191G>C	c.(1189-1191)GAG>GAC	p.E397D	ZNF606_uc010yhp.1_Missense_Mutation_p.E307D	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATAGGGTTTCTCTGCAGTGT	0.378		NaN											0	0	0	0.001984	0	5	55				
TRIM28	10155	broad.mit.edu	37	19	59059693	59059693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:59059693G>A	uc002qtg.1	+	8	1423	c.1134G>A	c.(1132-1134)ATG>ATA	p.M378I	TRIM28_uc010eut.1_Missense_Mutation_p.M296I|TRIM28_uc002qth.1_Missense_Mutation_p.M1I	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	378					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTCAAGATGATTGTGGATC	0.532		NaN											0	0	0	0.006214	0	8	102				
TAF1B	9014	broad.mit.edu	37	2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:10045054C>T	uc002qzz.2	+	9	974	c.874C>T	c.(874-876)CGT>TGT	p.R292C	TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378		NaN											0	0	0	0.001168	0	6	53				
MYCN	4613	broad.mit.edu	37	2	16085691	16085691	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:16085691C>T	uc002rci.2	+	3	1167	c.867C>T	c.(865-867)TCC>TCT	p.S289S	MYCN_uc010yjr.1_Silent_p.S281S	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	289					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTTCCTCCTCCAACACCAAGG	0.458		NaN	A		neuroblastoma								0	0	0	0.001368	0	12	73				
NT5C1B	93034	broad.mit.edu	37	2	18745124	18745124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:18745124C>T	uc002rcz.2	-	10	1875	c.1771G>A	c.(1771-1773)GAA>AAA	p.E591K	NT5C1B_uc002rcy.2_Missense_Mutation_p.E591K|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Missense_Mutation_p.E531K|NT5C1B_uc002rda.2_Missense_Mutation_p.E531K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E608K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E574K|NT5C1B_uc010exs.2_Missense_Mutation_p.E593K	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	591					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGTGCCCCTTCAATGTGGAAC	0.468		NaN											0	0	0	0.001984	0	7	44				
OTOF	9381	broad.mit.edu	37	2	26700125	26700125	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:26700125C>T	uc002rhk.2	-	21	2565	c.2438G>A	c.(2437-2439)CGG>CAG	p.R813Q	OTOF_uc002rhh.2_Missense_Mutation_p.R66Q|OTOF_uc002rhi.2_Missense_Mutation_p.R123Q|OTOF_uc002rhj.2_Missense_Mutation_p.R66Q	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	813	Cytoplasmic (Potential).|Potential.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGGGCCCGCAGCATCCT	0.652		NaN											0	0	0	0.000602	0	5	29				
EMILIN1	11117	broad.mit.edu	37	2	27308605	27308605	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27308605C>T	uc002rii.3	+	8	3201	c.2773C>T	c.(2773-2775)CGG>TGG	p.R925W	EMILIN1_uc002rik.3_Missense_Mutation_p.R160W|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	925	C1q.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGGGCACCGGCACGAGAA	0.667		NaN											0	0	0	0.003163	0	14	124				
GTF3C2	2976	broad.mit.edu	37	2	27550106	27550106	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27550106G>T	uc002rjv.1	-	19	2818	c.2455C>A	c.(2455-2457)CAG>AAG	p.Q819K	MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.Q274K|GTF3C2_uc002rju.1_Missense_Mutation_p.Q830K|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q819K	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	819						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGCATGCGCAGC	0.507		NaN											1	0	0.00621372	0.006214	0.00633594	6	90				
KRTCAP3	200634	broad.mit.edu	37	2	27666827	27666827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27666827G>A	uc002rks.2	+	6	644	c.627G>A	c.(625-627)ATG>ATA	p.M209I	KRTCAP3_uc010ylr.1_Missense_Mutation_p.M209I|KRTCAP3_uc002rkt.2_Missense_Mutation_p.M191I	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	209						integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					TAGAGGAAATGACAGAGCTTG	0.363		NaN											0	0	0	0.001984	0	5	45				
XDH	7498	broad.mit.edu	37	2	31562480	31562480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31562480C>T	uc002rnv.1	-	34	3728	c.3649G>A	c.(3649-3651)GAG>AAG	p.E1217K		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1217					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCTCCCCTCGGGGGAATAG	0.612		NaN											0	0	0	0.001984	0	6	58				
XDH	7498	broad.mit.edu	37	2	31598300	31598300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31598300G>A	uc002rnv.1	-	15	1627	c.1548C>T	c.(1546-1548)TTC>TTT	p.F516F		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287).	purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAACTTGAAGAAGAAGCTGA	0.597		NaN											0	0	0	0.00245	0	12	108				
BIRC6	57448	broad.mit.edu	37	2	32640519	32640519	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:32640519G>A	uc010ezu.2	+	10	2294	c.2160G>A	c.(2158-2160)TTG>TTA	p.L720L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	720					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTCAGTGCTTGAGGCTGCCAA	0.483		NaN											0	0	0	0.00308	0	7	20				
CRIM1	51232	broad.mit.edu	37	2	36669853	36669853	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:36669853G>T	uc002rpd.2	+	4	883	c.844G>T	c.(844-846)GAT>TAT	p.D282Y		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	282	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACTAACTGCAGATGGTTGCTG	0.468		NaN											1	0	6.12954e-19	0.004656	6.61439e-19	21	181				
HEATR5B	54497	broad.mit.edu	37	2	37280645	37280645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:37280645C>G	uc002rpp.1	-	17	2601	c.2505G>C	c.(2503-2505)AAG>AAC	p.K835N		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	835							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				AAGTAAATACCTTTAGTGCAC	0.308		NaN											0	0	0	0.00308	0	7	44				
GALM	130589	broad.mit.edu	37	2	38893390	38893390	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:38893390G>C	uc002rqy.2	+	1	339	c.87G>C	c.(85-87)TTG>TTC	p.L29F		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	29					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				CAGACCTCTTGAGAGTGGACA	0.602		NaN											0	0	0	0.008291	0	9	81				
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:43452198C>G	uc002rsv.3	-	2	1036	c.745G>C	c.(745-747)GAG>CAG	p.E249Q	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	249					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.617		NaN											0	0	0	0.009096	0	3	36				
ABCG8	64241	broad.mit.edu	37	2	44102359	44102359	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:44102359G>A	uc002rtq.2	+	11	1653	c.1563G>A	c.(1561-1563)CTG>CTA	p.L521L	ABCG8_uc010yoa.1_Silent_p.L520L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	521	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCCAACCTGAGGCCAGGCC	0.622		NaN											0	0	0	0.003163	0	12	140				
SPTBN1	6711	broad.mit.edu	37	2	54843421	54843421	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:54843421G>A	uc002rxu.2	+	5	801	c.552G>A	c.(550-552)CAG>CAA	p.Q184Q	SPTBN1_uc002rxv.1_Silent_p.Q184Q|SPTBN1_uc002rxx.2_Silent_p.Q171Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	184	CH 2.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TGTGGTGCCAGATGAAGACAG	0.433		NaN											0	0	0	0.006122	0	15	75				
REL	5966	broad.mit.edu	37	2	61148963	61148963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61148963G>A	uc002sam.1	+	11	1377	c.1153G>A	c.(1153-1155)GAA>AAA	p.E385K	REL_uc002san.1_Missense_Mutation_p.E353K	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	385					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGTCAAGCAGAATCCTACTA	0.453		NaN	A		Hodgkin Lymphoma								0	0	0	0.006214	0	9	82				
XPO1	7514	broad.mit.edu	37	2	61721193	61721193	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61721193C>T	uc002sbj.2	-	12	1809	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K	XPO1_uc010fcl.2_Missense_Mutation_p.E357K|XPO1_uc010ypn.1_Missense_Mutation_p.E357K|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.E8K	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	361	HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCAGTTTCTTCTACTTCAGAT	0.348		NaN											0	0	0	0.000602	0	4	36				
B3GNT2	10678	broad.mit.edu	37	2	62450306	62450306	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:62450306G>C	uc002sbs.2	+	2	1189	c.951G>C	c.(949-951)CTG>CTC	p.L317L		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	317	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			ACCTGGCCCTGAGGCTGTACC	0.522		NaN											0	0	0	0.004656	0	23	97				
OTX1	5013	broad.mit.edu	37	2	63283012	63283012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:63283012C>T	uc002scd.2	+	5	874	c.626C>T	c.(625-627)TCC>TTC	p.S209F	OTX1_uc010ypt.1_Missense_Mutation_p.S143F	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	209						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					ATGCAGCGCTCCGTAGCTGCA	0.682		NaN											0	0	0	0.00308	0	7	36				
CEP68	23177	broad.mit.edu	37	2	65296855	65296855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:65296855G>A	uc002sdl.3	+	2	491	c.277G>A	c.(277-279)GAG>AAG	p.E93K	CEP68_uc002sdj.2_Missense_Mutation_p.E93K|CEP68_uc010yqb.1_Missense_Mutation_p.E93K|CEP68_uc002sdk.3_Missense_Mutation_p.E93K|CEP68_uc010yqc.1_Missense_Mutation_p.E93K|CEP68_uc010yqd.1_Missense_Mutation_p.E93K	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	93					centrosome organization	centrosome				skin(1)	1						GCCCGTAGCTGAGAGGTCTGA	0.617		NaN											0	0	0	0.008291	0	9	80				
PCYOX1	51449	broad.mit.edu	37	2	70485407	70485407	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:70485407C>T	uc002sgn.3	+	1	177	c.111C>T	c.(109-111)ATC>ATT	p.I37I	PCYOX1_uc010fdo.2_Intron|PCYOX1_uc010yqu.1_Silent_p.I37I	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	37					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						CAGATAAAATCGGTAGGCGAG	0.607		NaN											0	0	0	0.001168	0	4	17				
NAGK	55577	broad.mit.edu	37	2	71302769	71302769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:71302769G>A	uc002shp.3	+	7	1070	c.664G>A	c.(664-666)GAA>AAA	p.E222K	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.E73K|NAGK_uc002shr.2_Missense_Mutation_p.E171K	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	222					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	GAAAATTGCAGAAGGTACTGG	0.493		NaN											0	0	0	0.001368	0	10	56				
ALMS1	7840	broad.mit.edu	37	2	73799556	73799556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:73799556C>T	uc002sje.1	+	18	10666	c.10555C>T	c.(10555-10557)CAT>TAT	p.H3519Y	ALMS1_uc002sjf.1_Missense_Mutation_p.H3475Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H2905Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H2905Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3517					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTTTCAGCATCATCCAGACAA	0.383		NaN											0	0	0	0.001984	0	6	19				
MOBKL1B	55233	broad.mit.edu	37	2	74399752	74399752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74399752G>A	uc002skh.3	-	2	336	c.142C>T	c.(142-144)CCT>TCT	p.P48S	MOBKL1B_uc002ski.2_Missense_Mutation_p.P48S	NM_018221	NP_060691	Q9H8S9	MOL1B_HUMAN	Mob4B protein	48					hippo signaling cascade		metal ion binding|protein binding				0						TCTCCCTCAGGCAACATAACA	0.373		NaN											0	0	0	0.006214	0	7	99				
WDR54	84058	broad.mit.edu	37	2	74650498	74650498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74650498G>C	uc002slb.2	+	4	398	c.338G>C	c.(337-339)GGA>GCA	p.G113A		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	113											0						CTGGACTCTGGAGATGCCTCC	0.552		NaN											0	0	0	0.00632	0	25	262				
AUP1	550	broad.mit.edu	37	2	74756246	74756246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74756246C>T	uc010yry.1	-	3	570	c.352G>A	c.(352-354)GAG>AAG	p.E118K	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Intron|AUP1_uc002smg.2_Intron|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Intron|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;	118	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CTCTCGGCCTCGCTCTCACTC	0.602		NaN											0	0	0	0.008291	0	8	51				
POLR1A	25885	broad.mit.edu	37	2	86255054	86255054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:86255054C>T	uc002sqs.2	-	33	5395	c.5016G>A	c.(5014-5016)ATG>ATA	p.M1672I	POLR1A_uc010ytb.1_Missense_Mutation_p.M1038I	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1672					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TTTCAAATGTCATCTGCTGTA	0.542		NaN											0	0	0	0.001368	0	11	95				
ADRA2B	151	broad.mit.edu	37	2	96780656	96780656	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96780656G>A	uc002svi.2	-	3	1242	c.1242C>T	c.(1240-1242)ATC>ATT	p.I414I		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	414	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TGCAGTAGCCGATCCAGAAGA	0.582		NaN											0	0	0	0.004672	0	3	28				
CIAO1	9391	broad.mit.edu	37	2	96932160	96932160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96932160G>A	uc002svs.2	+	1	277	c.72G>A	c.(70-72)TGG>TGA	p.W24*	TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	WD repeat domain 39	24	WD 1.				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding				0						TCCTGGCCTGGAACCCCGCGG	0.741		NaN											0	0	0	0.004482	0	8	27				
NPAS2	4862	broad.mit.edu	37	2	101554280	101554280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:101554280C>T	uc002tap.1	+	5	625	c.339C>T	c.(337-339)ATC>ATT	p.I113I	NPAS2_uc010yvt.1_Silent_p.I178I	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	113	PAS 1.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CTGACAGTATCACGCCTCTCC	0.453		NaN											0	0	0	0.00874	0	31	178				
IL18RAP	8807	broad.mit.edu	37	2	103057804	103057804	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:103057804G>A	uc002tbx.2	+	7	1247	c.763G>A	c.(763-765)GAT>AAT	p.D255N	IL18RAP_uc010fiz.2_Missense_Mutation_p.D113N	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	255	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						AGATATTCTGGATCCTGTCGA	0.418		NaN											0	0	0	0.009096	0	3	63				
BUB1	699	broad.mit.edu	37	2	111419343	111419343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:111419343G>C	uc002tgc.2	-	10	1145	c.1033C>G	c.(1033-1035)CAG>GAG	p.Q345E	BUB1_uc010yxh.1_Missense_Mutation_p.Q325E|BUB1_uc010fkb.2_Missense_Mutation_p.Q345E|BUB1_uc002tgd.2_Missense_Mutation_p.Q345E	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	345					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGTCTGCTGATAGGTTACT	0.488		NaN											0	0	0	0.006214	0	7	95				
SLC20A1	6574	broad.mit.edu	37	2	113417184	113417184	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113417184C>G	uc002tib.2	+	8	1898	c.1452C>G	c.(1450-1452)GTC>GTG	p.V484V	SLC20A1_uc002tic.1_Silent_p.V296V	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	484	Cytoplasmic (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						ACATGAGTGTCAAGGCAGAGA	0.463		NaN											0	0	0	0.012213	0	26	135				
IL1B	3553	broad.mit.edu	37	2	113593149	113593149	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113593149C>T	uc002tii.1	-	3	180	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	IL1B_uc002tih.1_5'UTR	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	31					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTACCTTCATCTGTTTAGGGC	0.423		NaN											0	0	0	0.00308	0	6	61				
EN1	2019	broad.mit.edu	37	2	119600619	119600619	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119600619G>A	uc002tlm.2	-	2	2090	c.1074C>T	c.(1072-1074)ATC>ATT	p.I358I		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	358	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						TGGCTTTCTTGATCTTGGCGC	0.602		NaN											0	0	0	0.008291	0	10	62				
EN1	2019	broad.mit.edu	37	2	119604494	119604494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119604494G>C	uc002tlm.2	-	1	1266	c.250C>G	c.(250-252)CAG>GAG	p.Q84E		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	84					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						GCGAGATGCTGAggcggcggg	0.363		NaN											0	0	0	0.00308	0	5	32				
DBI	1622	broad.mit.edu	37	2	120125785	120125785	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120125785G>A	uc002tlv.2	+	2	155	c.31G>A	c.(31-33)GAG>AAG	p.E11K	C2orf76_uc002tls.2_5'Flank|C2orf76_uc010flf.1_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyh.1_Missense_Mutation_p.E28K|DBI_uc010yyi.1_Missense_Mutation_p.E28K|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.E53K|DBI_uc010yyl.1_Missense_Mutation_p.E28K|DBI_uc010yym.1_Missense_Mutation_p.E21K|DBI_uc010yyn.1_Missense_Mutation_p.E28K|DBI_uc002tlw.2_Missense_Mutation_p.E28K|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.E12K|DBI_uc010yyp.1_5'Flank	NM_001079862	NP_001073331	P07108	ACBP_HUMAN	diazepam binding inhibitor isoform 3	11	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding				0						GAAAGCTGCAGAGGAGGTTAG	0.502		NaN											0	0	0	0.003163	0	13	93				
PTPN4	5775	broad.mit.edu	37	2	120684226	120684226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120684226G>A	uc002tmf.1	+	13	1825	c.1054G>A	c.(1054-1056)GAC>AAC	p.D352N	PTPN4_uc010flj.1_Missense_Mutation_p.D65N	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	352						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	GGCAAATAAAGACAGGGTATT	0.284		NaN											0	0	0	0.001855	0	9	50				
FAM123C	205147	broad.mit.edu	37	2	131520311	131520311	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:131520311C>G	uc002trw.2	+	2	856	c.666C>G	c.(664-666)CTC>CTG	p.L222L	FAM123C_uc010fmv.2_Silent_p.L222L|FAM123C_uc010fms.1_Silent_p.L222L|FAM123C_uc010fmt.1_Silent_p.L222L|FAM123C_uc010fmu.1_Silent_p.L222L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	222										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		ACAGCGAGCTCCTGGCCGATG	0.677		NaN											0	0	0	0.004007	0	15	100				
LRP1B	53353	broad.mit.edu	37	2	141093288	141093288	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:141093288C>T	uc002tvj.1	-	78	12984	c.12012G>A	c.(12010-12012)CTG>CTA	p.L4004L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4004	Extracellular (Potential).|LDL-receptor class B 34.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAGTACCTCAGACTGGTCC	0.458		NaN								TSP Lung(27;0.18)			0	0	0	0.006214	0	8	33				
MBD5	55777	broad.mit.edu	37	2	149270460	149270460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:149270460G>A	uc002twm.3	+	15	5423	c.4435G>A	c.(4435-4437)GAC>AAC	p.D1479N	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.D1479N|MBD5_uc002two.2_Missense_Mutation_p.D737N|MBD5_uc002twp.2_Missense_Mutation_p.D529N	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1479						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCACAGGGTGACAGACAAAT	0.408		NaN											0	0	0	0.001168	0	5	73				
NEB	4703	broad.mit.edu	37	2	152362007	152362007	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:152362007C>G	uc010fnx.2	-	137	18815	c.18624G>C	c.(18622-18624)CAG>CAC	p.Q6208H	NEB_uc002txr.2_Missense_Mutation_p.Q2631H|RIF1_uc002txp.2_Intron|NEB_uc002txq.2_5'Flank|NEB_uc010zca.1_Missense_Mutation_p.Q39H|NEB_uc010zcb.1_Missense_Mutation_p.Q39H|NEB_uc002txt.3_Missense_Mutation_p.Q713H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6208	Nebulin 170.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATGTGCTTCTGCGTCTCCT	0.468		NaN											0	0	0	0.002299	0	20	116				
STAM2	10254	broad.mit.edu	37	2	153003708	153003708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:153003708C>T	uc002tyc.3	-	5	765	c.415G>A	c.(415-417)GAA>AAA	p.E139K	STAM2_uc010foa.1_Missense_Mutation_p.E139K|STAM2_uc002tyd.2_Missense_Mutation_p.E139K	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	139	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTAATTCCTTCTTCTTTCATA	0.358		NaN											0	0	0	0.000602	0	4	58				
BAZ2B	29994	broad.mit.edu	37	2	160289391	160289391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160289391C>T	uc002uao.2	-	9	2129	c.1777G>A	c.(1777-1779)GGA>AGA	p.G593R	BAZ2B_uc002uap.2_Missense_Mutation_p.G591R|BAZ2B_uc002uas.1_Missense_Mutation_p.G530R|BAZ2B_uc002uaq.1_Missense_Mutation_p.G521R|BAZ2B_uc002uar.1_Missense_Mutation_p.G166R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GAATCTGTTCCTCTGAATTGT	0.279		NaN											0	0	0	0.003163	0	16	82				
LY75	4065	broad.mit.edu	37	2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160667045G>C	uc002ubc.3	-	32	4760	c.4691C>G	c.(4690-4692)TCA>TGA	p.S1564*	LY75_uc002ubb.3_Nonsense_Mutation_p.S1564*|LY75_uc010fos.2_Nonsense_Mutation_p.S1564*	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1564	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.254		NaN											0	0	0	0.006122	0	15	129				
PLA2R1	22925	broad.mit.edu	37	2	160832638	160832638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160832638C>T	uc002ube.1	-	17	2743	c.2536G>A	c.(2536-2538)GAT>AAT	p.D846N	PLA2R1_uc010zcp.1_Missense_Mutation_p.D846N|PLA2R1_uc002ubf.2_Missense_Mutation_p.D846N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	846	Extracellular (Potential).|C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GTGAGAAGATCACTGTGCAGC	0.403		NaN											0	0	0	0.00308	0	7	61				
PLA2R1	22925	broad.mit.edu	37	2	160869838	160869838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160869838G>A	uc002ube.1	-	10	1807	c.1600C>T	c.(1600-1602)CGA>TGA	p.R534*	PLA2R1_uc010zcp.1_Nonsense_Mutation_p.R534*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.R534*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	534	Extracellular (Potential).|C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TCAAAGCTTCGAAGGACTGTG	0.368		NaN											0	0	0	0.001368	0	8	49				
PLA2R1	22925	broad.mit.edu	37	2	160889477	160889477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160889477G>C	uc002ube.1	-	4	1041	c.834C>G	c.(832-834)TTC>TTG	p.F278L	PLA2R1_uc010zcp.1_Missense_Mutation_p.F278L|PLA2R1_uc002ubf.2_Missense_Mutation_p.F278L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	278	Extracellular (Potential).|C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TACCCCTTATGAAATTTTCTT	0.358		NaN											0	0	0	0.004656	0	18	123				
RBMS1	5937	broad.mit.edu	37	2	161141534	161141534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:161141534C>T	uc002ubo.2	-	8	1222	c.778G>A	c.(778-780)GAC>AAC	p.D260N	RBMS1_uc002ubj.2_Missense_Mutation_p.D224N|RBMS1_uc002ubk.2_Missense_Mutation_p.D224N|RBMS1_uc002ubl.2_Missense_Mutation_p.D255N|RBMS1_uc002ubn.2_Missense_Mutation_p.D257N|RBMS1_uc002ubi.3_Missense_Mutation_p.D257N|RBMS1_uc002ubm.2_Missense_Mutation_p.D227N|RBMS1_uc002ubp.2_Missense_Mutation_p.D260N|RBMS1_uc010fox.2_Missense_Mutation_p.D260N	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	260					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						GTAGTTGGGTCGTAAGTAAGT	0.323		NaN											0	0	0	0.010729	0	9	57				
FIGN	55137	broad.mit.edu	37	2	164466154	164466154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:164466154C>T	uc002uck.1	-	3	2499	c.2188G>A	c.(2188-2190)GAA>AAA	p.E730K		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	730						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						AAAGCATTTTCAAAGTCTTGA	0.463		NaN											0	0	0	0.001984	0	6	52				
TTC21B	79809	broad.mit.edu	37	2	166797590	166797590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:166797590C>T	uc002udk.2	-	6	790	c.657G>A	c.(655-657)ATG>ATA	p.M219I	TTC21B_uc002udl.2_Missense_Mutation_p.M219I|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	219						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GTTGTAATTTCATTTTCTTAA	0.403		NaN											0	0	0	0.000602	0	4	21				
HOXD13	3239	broad.mit.edu	37	2	176958257	176958257	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:176958257C>T	uc002ukf.1	+	1	726	c.639C>T	c.(637-639)TTC>TTT	p.F213F		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	213					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGTCCACTTTCGGCTCCGGGG	0.617		NaN	T	NUP98	AML*								0	0	0	0.001855	0	10	142				
HOXD4	3233	broad.mit.edu	37	2	177016457	177016457	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:177016457G>A	uc002uks.2	+	1	345	c.96G>A	c.(94-96)CAG>CAA	p.Q32Q		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TAGGCGAGCAGGGCGCCGACT	0.627		NaN											0	0	0	0.008291	0	8	71				
TTC30A	92104	broad.mit.edu	37	2	178482268	178482268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482268C>G	uc002ulo.2	-	1	1427	c.1162G>C	c.(1162-1164)GAG>CAG	p.E388Q		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	388					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGAAGCTGCTCAGTCAGCATC	0.463		NaN											0	0	0	0.008871	0	18	129				
TTC30A	92104	broad.mit.edu	37	2	178482343	178482343	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482343C>G	uc002ulo.2	-	1	1352	c.1087G>C	c.(1087-1089)GAT>CAT	p.D363H		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	363					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATCAGGGCATCTAAGAAGTCA	0.473		NaN											0	0	0	0.006122	0	16	99				
TTN	7273	broad.mit.edu	37	2	179489391	179489391	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179489391C>T	uc010zfg.1	-	191	37136	c.36912G>A	c.(36910-36912)CTG>CTA	p.L12304L	TTN_uc010zfh.1_Silent_p.L5999L|TTN_uc010zfi.1_Silent_p.L5932L|TTN_uc010zfj.1_Silent_p.L5807L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13231							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCACACTCCAGCACTGCAG	0.458		NaN											0	0	0	0.004672	0	3	13				
TTN	7273	broad.mit.edu	37	2	179594559	179594559	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179594559G>C	uc010zfg.1	-	60	14913	c.14689C>G	c.(14689-14691)CTA>GTA	p.L4897V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1558V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5824							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCGTCTAGATACCAAGAC	0.428		NaN											0	0	0	0.000602	0	4	27				
GTF3C3	9330	broad.mit.edu	37	2	197664281	197664281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:197664281C>G	uc002uts.2	-	1	145	c.55G>C	c.(55-57)GAG>CAG	p.E19Q	GTF3C3_uc010zgu.1_Missense_Mutation_p.E19Q|GTF3C3_uc002utu.2_Missense_Mutation_p.E19Q	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	19						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TCGAACTCCTCAAAGGAGATT	0.527		NaN											0	0	0	0.012319	0	13	91				
SF3B1	23451	broad.mit.edu	37	2	198263234	198263234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:198263234C>T	uc002uue.2	-	21	3133	c.3085G>A	c.(3085-3087)GAA>AAA	p.E1029K		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1029	HEAT 8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTACTTTTTCATGTCTGTTC	0.343		NaN											0	0	0	0.002299	0	17	94				
FZD7	8324	broad.mit.edu	37	2	202900897	202900897	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:202900897G>C	uc002uyw.1	+	1	1588	c.1527G>C	c.(1525-1527)AAG>AAC	p.K509N		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	509	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						AGACGTGCAAGAGCTATGCCG	0.627		NaN									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	20	125				
NBEAL1	65065	broad.mit.edu	37	2	204078320	204078320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:204078320C>G	uc002uzt.3	+	54	8260	c.7927C>G	c.(7927-7929)CTT>GTT	p.L2643V	NBEAL1_uc002uzs.3_Missense_Mutation_p.L1284V|NBEAL1_uc002uzu.2_Missense_Mutation_p.L138V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2643							binding			ovary(1)|skin(1)	2						CAGCCATATTCTTGTAGGTTT	0.398		NaN											0	0	0	0.00874	0	30	115				
INO80D	54891	broad.mit.edu	37	2	206870253	206870253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:206870253C>G	uc002vaz.3	-	11	2328	c.1923G>C	c.(1921-1923)AAG>AAC	p.K641N		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	641					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGTCTCCATTCTTCCCTGAGT	0.443		NaN											0	0	0	0.009096	0	4	21				
SMARCAL1	50485	broad.mit.edu	37	2	217300156	217300156	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:217300156C>T	uc002vgc.3	+	9	1911	c.1581C>T	c.(1579-1581)GTC>GTT	p.V527V	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.V527V|SMARCAL1_uc010fvg.2_Silent_p.V527V	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	527	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACATTGTCAGCTTTGACC	0.463		NaN							Schimke_Immuno-Osseous_Dysplasia				0	0	0	0.001984	0	6	60				
CCDC108	255101	broad.mit.edu	37	2	219896248	219896248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:219896248C>T	uc002vjl.1	-	7	862	c.778G>A	c.(778-780)GAT>AAT	p.D260N	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.D249N|CCDC108_uc010zkq.1_Missense_Mutation_p.D195N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	260						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGTCGTATCTCCCACAGCA	0.627		NaN											0	0	0	0.00361	0	39	328				
ALPP	250	broad.mit.edu	37	2	233243989	233243989	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233243989G>A	uc002vsq.2	+	3	438	c.273G>A	c.(271-273)CTG>CTA	p.L91L	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	91						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGATACCCCTGGCCATGGACC	0.552		NaN											0	0	0	0.004482	0	7	54				
GIGYF2	26058	broad.mit.edu	37	2	233599920	233599920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233599920A>G	uc002vti.3	+	5	350	c.13A>G	c.(13-15)ACG>GCG	p.T5A	GIGYF2_uc002vte.2_RNA|GIGYF2_uc002vtf.2_RNA|GIGYF2_uc010zmj.1_Missense_Mutation_p.T5A|GIGYF2_uc002vtg.2_Missense_Mutation_p.T5A|GIGYF2_uc002vtj.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtk.3_Missense_Mutation_p.T5A|GIGYF2_uc002vth.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtl.2_RNA|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	5					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGCAGCGGAAACGCAGACACT	0.333		NaN											0	0	0	0.001984	0	4	29				
MLPH	79083	broad.mit.edu	37	2	238402155	238402155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:238402155G>A	uc002vwt.2	+	2	313	c.86G>A	c.(85-87)CGA>CAA	p.R29Q	MLPH_uc002vws.2_Missense_Mutation_p.R29Q|MLPH_uc010fyt.1_Missense_Mutation_p.R29Q|MLPH_uc002vwu.2_Missense_Mutation_p.R29Q|MLPH_uc002vwv.2_Missense_Mutation_p.R29Q	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	29	RabBD.						metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TTTGACCTCCGAAGGAAAGAA	0.542		NaN											0	0	0	0.00499	0	16	99				
GPC1	2817	broad.mit.edu	37	2	241398601	241398601	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:241398601C>T	uc002vyw.3	+	2	542	c.321C>T	c.(319-321)TTC>TTT	p.F107F	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	107					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGCGCAGCTTCGATGGTGAGT	0.701		NaN											0	0	0	0.004482	0	7	28				
GAL3ST2	64090	broad.mit.edu	37	2	242743447	242743447	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:242743447C>T	uc002wcj.1	+	4	1194	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	355	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTACAACCTCCGGCCGGGCCT	0.667		NaN											0	0	0	0.00308	0	5	11				
SOX12	6666	broad.mit.edu	37	20	306825	306825	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:306825A>T	uc002wdh.2	+	1	587	c.257A>T	c.(256-258)AAG>ATG	p.K86M		NM_006943	NP_008874	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	86	HMG box.				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding				0		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACTCGGAGAAGATCCCGTTC	0.612		NaN											0	0	0	0.001168	0	4	37				
ANGPT4	51378	broad.mit.edu	37	20	853663	853663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:853663G>T	uc002wei.2	-	9	1555	c.1452C>A	c.(1450-1452)TTC>TTA	p.F484L	ANGPT4_uc010zpn.1_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	484	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						TGGGGCCCTTGAAGTAGTGCC	0.577		NaN											1	0	5.50884e-06	0.001368	5.7299e-06	9	99				
UBOX5	22888	broad.mit.edu	37	20	3090835	3090835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3090835C>T	uc002whw.2	-	5	1713	c.1543G>A	c.(1543-1545)GAG>AAG	p.E515K	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.E461K|UBOX5_uc002why.1_Silent_p.*513*	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	515	RING-type.					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CGTTGCTTCTCACCCAGGCAG	0.607		NaN											0	0	0	0.008871	0	17	215				
CENPB	1059	broad.mit.edu	37	20	3766965	3766965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3766965C>G	uc002wjk.2	-	1	373	c.166G>C	c.(166-168)GAG>CAG	p.E56Q	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	56					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						TACTTGCGCTCCGACGCCAGG	0.642		NaN											0	0	0	0.008291	0	11	106				
MCM8	84515	broad.mit.edu	37	20	5939338	5939338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:5939338C>G	uc002wmi.2	+	7	1132	c.755C>G	c.(754-756)CCT>CGT	p.P252R	MCM8_uc002wmj.2_Missense_Mutation_p.P252R|MCM8_uc002wmk.2_Missense_Mutation_p.P252R|MCM8_uc002wml.2_Missense_Mutation_p.P252R|MCM8_uc010gbp.2_Missense_Mutation_p.P252R	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	252					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						CAGAGCTTTCCTCTTCCAGAT	0.388		NaN											0	0	0	0.001168	0	4	33				
TMX4	56255	broad.mit.edu	37	20	7962990	7962990	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:7962990C>A	uc002wmx.1	-	8	1091	c.958G>T	c.(958-960)GGC>TGC	p.G320C		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	320	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						TCAGAGATGCCTTCTTCAGCC	0.562		NaN											1	0	2.23348e-06	0.004007	2.33059e-06	13	80				
SEL1L2	80343	broad.mit.edu	37	20	13830926	13830926	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:13830926G>T	uc010gcf.2	-	19	1940	c.1858C>A	c.(1858-1860)CAA>AAA	p.Q620K	SEL1L2_uc002woq.3_Missense_Mutation_p.Q481K|SEL1L2_uc010zrl.1_Missense_Mutation_p.Q507K|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	620	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						GGACTCGTTTGAGCAGCCATG	0.453		NaN											1	0	3.07112e-06	0.010729	3.20207e-06	10	74				
KIF16B	55614	broad.mit.edu	37	20	16359787	16359787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359787C>T	uc002wpg.1	-	19	3018	c.2860G>A	c.(2860-2862)GAA>AAA	p.E954K	KIF16B_uc002wpe.1_Missense_Mutation_p.E336K|KIF16B_uc002wpf.1_Missense_Mutation_p.E336K|KIF16B_uc010gch.1_Missense_Mutation_p.E954K|KIF16B_uc010gci.1_Missense_Mutation_p.E954K|KIF16B_uc010gcj.1_Missense_Mutation_p.E965K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	954	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GCAAGCTGTTCTTCTTTTTCT	0.438		NaN											0	0	0	0.004482	0	6	80				
KIF16B	55614	broad.mit.edu	37	20	16359856	16359856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359856G>A	uc002wpg.1	-	19	2949	c.2791C>T	c.(2791-2793)CTT>TTT	p.L931F	KIF16B_uc002wpe.1_Missense_Mutation_p.L313F|KIF16B_uc002wpf.1_Missense_Mutation_p.L313F|KIF16B_uc010gch.1_Missense_Mutation_p.L931F|KIF16B_uc010gci.1_Missense_Mutation_p.L931F|KIF16B_uc010gcj.1_Missense_Mutation_p.L942F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	931	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						CCTCTGTCAAGAATTTCAAAT	0.433		NaN											0	0	0	0.009096	0	4	58				
CSRP2BP	57325	broad.mit.edu	37	20	18167964	18167964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:18167964C>T	uc002wqj.2	+	11	2832	c.2210C>T	c.(2209-2211)TCA>TTA	p.S737L	CSRP2BP_uc002wqk.2_Missense_Mutation_p.S609L|CSRP2BP_uc010zru.1_Missense_Mutation_p.S608L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	737	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						CTTCACGTCTCAGCAAGCAAC	0.403		NaN											0	0	0	0.006122	0	14	134				
RALGAPA2	57186	broad.mit.edu	37	20	20621418	20621418	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:20621418G>A	uc002wrz.2	-	6	620	c.477C>T	c.(475-477)TTC>TTT	p.F159F	RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	159					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGACTGCTGGGAAACCAGGCA	0.498		NaN											0	0	0	0.004482	0	7	58				
XRN2	22803	broad.mit.edu	37	20	21309207	21309207	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:21309207C>G	uc002wsf.1	+	4	421	c.326C>G	c.(325-327)GCT>GGT	p.A109G	XRN2_uc002wsg.1_Missense_Mutation_p.A33G|XRN2_uc010zsk.1_Missense_Mutation_p.A55G	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	109				A -> V (in Ref. 1; AAD55138/AAQ13577).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GCACCACGTGCTAAAATGAAC	0.383		NaN											0	0	0	0.004672	0	3	23				
GINS1	9837	broad.mit.edu	37	20	25388508	25388508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:25388508G>A	uc002wuv.1	+	1	186	c.52G>A	c.(52-54)GAA>AAA	p.E18K	GINS1_uc010zte.1_RNA	NM_021067	NP_066545	Q14691	PSF1_HUMAN	GINS complex subunit 1	18					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				ovary(1)|central_nervous_system(1)	2						TCGCGCGCCCGAAGGGCAACT	0.687		NaN											0	0	0	0.00245	0	9	53				
XKR7	343702	broad.mit.edu	37	20	30585240	30585240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30585240G>A	uc002wxe.2	+	3	1894	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	574						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGCTGCTGGAGTATGAGAC	0.617		NaN											0	0	0	0.006214	0	9	90				
HCK	3055	broad.mit.edu	37	20	30681792	30681792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30681792G>A	uc002wxh.2	+	11	1390	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	HCK_uc010gdy.2_Missense_Mutation_p.E386K|HCK_uc002wxi.2_Missense_Mutation_p.E385K	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	407	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGGGTCATTGAGGACAACGA	0.552		NaN											0	0	0	0.012319	0	17	213				
ASXL1	171023	broad.mit.edu	37	20	31021257	31021257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31021257G>A	uc002wxs.2	+	11	1682	c.1256G>A	c.(1255-1257)AGA>AAA	p.R419K	ASXL1_uc010geb.2_Missense_Mutation_p.R310K	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	419					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CTCCGAACCAGAGCCAGAAGG	0.517		NaN	F|N|Mis		MDS|CMML								0	0	0	0.010729	0	10	110				
C20orf185	359710	broad.mit.edu	37	20	31661410	31661410	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31661410G>A	uc002wym.1	+	15	1430	c.1430G>A	c.(1429-1431)TGA>TAA	p.*477*		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	477					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						GTGGCATCCTGAGGCTGAGAC	0.532		NaN											0	0	0	0.008871	0	16	187				
ZNF341	84905	broad.mit.edu	37	20	32354821	32354821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:32354821C>T	uc002wzy.2	+	9	1407	c.1387C>T	c.(1387-1389)CAC>TAC	p.H463Y	ZNF341_uc002wzx.2_Missense_Mutation_p.H456Y|ZNF341_uc010geq.2_Missense_Mutation_p.H373Y|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	463	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GCTCAAGTCTCACATGACCCA	0.562		NaN											0	0	0	0.00361	0	45	444				
EDEM2	55741	broad.mit.edu	37	20	33722577	33722577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33722577C>G	uc002xbo.2	-	6	766	c.666G>C	c.(664-666)TTG>TTC	p.L222F	EDEM2_uc010zuv.1_Missense_Mutation_p.L181F|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.L185F|EDEM2_uc010zut.1_Missense_Mutation_p.L181F|EDEM2_uc002xbp.2_Missense_Mutation_p.L70F|EDEM2_uc002xbn.2_Missense_Mutation_p.L70F|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	222					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAGGCGCATCAAAGCCACTC	0.577		NaN											0	0	0	0.008291	0	11	127				
FAM83C	128876	broad.mit.edu	37	20	33875386	33875386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33875386G>C	uc010zux.1	-	4	1314	c.1196C>G	c.(1195-1197)TCA>TGA	p.S399*	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	399										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTTAGGGTCTGACAGTTGGCG	0.627		NaN											0	0	0	0.000602	0	4	50				
SPAG4	6676	broad.mit.edu	37	20	34203963	34203963	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34203963C>G	uc002xdb.1	+	1	155	c.38C>G	c.(37-39)TCG>TGG	p.S13W	SPAG4_uc010zvi.1_5'UTR	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	13					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCCTCGTCCTCGCGCAAGCAC	0.677		NaN											0	0	0	0.010729	0	9	85				
CPNE1	8904	broad.mit.edu	37	20	34220496	34220496	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34220496C>A	uc002xdf.2	-	5	615	c.252G>T	c.(250-252)AAG>AAT	p.K84N	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.K89N|CPNE1_uc002xde.2_Missense_Mutation_p.K84N|CPNE1_uc002xdg.2_Missense_Mutation_p.K84N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K84N|CPNE1_uc002xdi.2_Missense_Mutation_p.K84N|CPNE1_uc002xdj.2_Missense_Mutation_p.K84N|CPNE1_uc002xdk.2_Missense_Mutation_p.K84N|CPNE1_uc002xdl.2_Missense_Mutation_p.K84N|CPNE1_uc002xdm.2_Missense_Mutation_p.K84N|CPNE1_uc010gfk.1_Missense_Mutation_p.K84N|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	84	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCTCTGGCGTCTTGTTGTCTA	0.512		NaN											1	0	2.47316e-13	0.003271	2.63804e-13	26	188				
PHF20	51230	broad.mit.edu	37	20	34459608	34459608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34459608C>T	uc002xek.1	+	9	1250	c.1139C>T	c.(1138-1140)TCA>TTA	p.S380L	PHF20_uc002xei.1_Missense_Mutation_p.S380L|PHF20_uc010gfo.1_Missense_Mutation_p.S380L|PHF20_uc002xej.1_Missense_Mutation_p.S264L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GGCCAGGTCTCATCTGCACTG	0.458		NaN											0	0	0	0.00623	0	31	209				
RPRD1B	58490	broad.mit.edu	37	20	36662405	36662405	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:36662405C>G	uc002xho.3	+	1	458	c.56C>G	c.(55-57)TCT>TGT	p.S19C	KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	19	CID.									pancreas(1)	1						CTGAGCAACTCTCAGCAGAGC	0.657		NaN											0	0	0	0.003954	0	25	160				
SLC32A1	140679	broad.mit.edu	37	20	37353686	37353686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:37353686G>A	uc002xjc.2	+	1	582	c.319G>A	c.(319-321)GAA>AAA	p.E107K		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	107	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGGTGGTGGCGAATTCGGGGG	0.652		NaN											0	0	0	0.004656	0	18	185				
CHD6	84181	broad.mit.edu	37	20	40079711	40079711	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:40079711C>T	uc002xka.1	-	23	3736	c.3558G>A	c.(3556-3558)GGG>GGA	p.G1186G		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1186					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCGTCTTCTTCCCCTTCCTCC	0.517		NaN											0	0	0	0.00499	0	15	136				
TTPAL	79183	broad.mit.edu	37	20	43113071	43113071	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43113071G>A	uc002xmc.1	+	4	664	c.540G>A	c.(538-540)GTG>GTA	p.V180V	TTPAL_uc002xmd.1_Silent_p.V180V|TTPAL_uc010ggr.1_Intron	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	180	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						AAACCCAGGTGAATGGAATTG	0.403		NaN											0	0	0	0.001984	0	6	89				
SERINC3	10955	broad.mit.edu	37	20	43132467	43132467	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43132467G>A	uc002xme.2	-	8	1178	c.1044C>T	c.(1042-1044)CTC>CTT	p.L348L	SERINC3_uc002xmf.1_Silent_p.L348L|SERINC3_uc010ggs.1_Silent_p.L341L|SERINC3_uc010zwp.1_Silent_p.L293L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	348	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TAGAATACAAGAGGCAGAGAA	0.378		NaN											0	0	0	0.001168	0	4	61				
STK4	6789	broad.mit.edu	37	20	43610474	43610474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43610474C>T	uc002xnb.2	+	4	340	c.250C>T	c.(250-252)CAT>TAT	p.H84Y	STK4_uc010ggx.2_Missense_Mutation_p.H84Y|STK4_uc010ggy.2_Missense_Mutation_p.H84Y|STK4_uc010ggw.1_Missense_Mutation_p.H84Y	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	84	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CTCTAGCCCTCATGTAGTCAA	0.348		NaN											0	0	0	0.00308	0	7	43				
MATN4	8785	broad.mit.edu	37	20	43933126	43933126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43933126C>T	uc002xnn.2	-	3	572	c.385G>A	c.(385-387)GAG>AAG	p.E129K	MATN4_uc002xno.2_Missense_Mutation_p.E129K|MATN4_uc002xnp.2_Missense_Mutation_p.E129K|MATN4_uc010zwr.1_Missense_Mutation_p.E77K|MATN4_uc002xnr.1_Missense_Mutation_p.E129K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	129	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CGCGCGCCCTCGGCCACACTG	0.711		NaN											0	0	0	0.000602	0	4	17				
PIGT	51604	broad.mit.edu	37	20	44053141	44053141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44053141C>G	uc002xoh.1	+	11	1479	c.1406C>G	c.(1405-1407)TCT>TGT	p.S469C	PIGT_uc002xoj.1_Missense_Mutation_p.S402C|PIGT_uc002xok.1_Missense_Mutation_p.S434C|PIGT_uc010zwu.1_Missense_Mutation_p.S207C|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.S207C|PIGT_uc010zww.1_Missense_Mutation_p.S413C|PIGT_uc010zwx.1_Missense_Mutation_p.S304C|PIGT_uc010zwy.1_Missense_Mutation_p.S367C|PIGT_uc010zwz.1_Missense_Mutation_p.S207C|PIGT_uc010zxa.1_Missense_Mutation_p.S307C|PIGT_uc002xol.1_Missense_Mutation_p.S258C|PIGT_uc010zxb.1_Missense_Mutation_p.S145C|PIGT_uc002xom.1_Missense_Mutation_p.S61C	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	469	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				TGTAGCCCATCTGTCCTCAGC	0.582		NaN											0	0	0	0.00632	0	23	136				
SLC12A5	57468	broad.mit.edu	37	20	44671954	44671954	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44671954C>T	uc010zxl.1	+	9	1374	c.1298C>T	c.(1297-1299)TCA>TTA	p.S433L	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.S410L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	433	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACTTCCCCTCAGTCACAGGT	0.517		NaN											0	0	0	0.00361	0	43	385				
SLC12A5	57468	broad.mit.edu	37	20	44682304	44682304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44682304C>G	uc010zxl.1	+	20	2780	c.2704C>G	c.(2704-2706)CTG>GTG	p.L902V	SLC12A5_uc002xrb.2_Missense_Mutation_p.L879V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	902	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCACATTTCTGTATCATTT	0.552		NaN											0	0	0	0.008361	0	24	267				
ELMO2	63916	broad.mit.edu	37	20	45012097	45012097	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:45012097C>T	uc002xrt.1	-	10	924	c.714G>A	c.(712-714)CTG>CTA	p.L238L	ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xru.1_Silent_p.L238L|ELMO2_uc010zxr.1_Silent_p.L238L|ELMO2_uc010zxs.1_Silent_p.L55L|ELMO2_uc002xrw.2_Silent_p.L55L|ELMO2_uc002xrx.1_Silent_p.L238L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	238					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GTGCATTAATCAGTGCAATGG	0.458		NaN											0	0	0	0.001368	0	10	104				
ARFGEF2	10564	broad.mit.edu	37	20	47641868	47641868	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:47641868G>C	uc002xtx.3	+	36	4926	c.4774G>C	c.(4774-4776)GAT>CAT	p.D1592H	ARFGEF2_uc010zyf.1_Missense_Mutation_p.D885H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1592					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTGGATGCAGATATCCACAT	0.478		NaN											0	0	0	0.009096	0	3	22				
RNF114	55905	broad.mit.edu	37	20	48562721	48562721	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:48562721G>A	uc002xux.2	+	4	483	c.447G>A	c.(445-447)AAG>AAA	p.K149K	RNF114_uc010zyo.1_Silent_p.K149K|RNF114_uc002xuy.2_RNA	NM_018683	NP_061153	Q9Y508	RN114_HUMAN	zinc finger protein 313	149					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTCCTGAGAAGAACTTTGATC	0.368		NaN											0	0	0	0.010729	0	6	69				
NFATC2	4773	broad.mit.edu	37	20	50051746	50051746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:50051746G>A	uc002xwd.2	-	8	2231	c.2011C>T	c.(2011-2013)CAG>TAG	p.Q671*	NFATC2_uc002xwc.2_Nonsense_Mutation_p.Q671*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.Q651*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.Q452*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.Q651*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	671					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GTAAAGTGCTGAGGCTGACTT	0.338		NaN											0	0	0	0.004656	0	18	175				
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:51873094G>C	uc002xwo.2	+	2	4053	c.3097G>C	c.(3097-3099)GAA>CAA	p.E1033Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493		NaN											0	0	0	0.004656	0	20	249				
CASS4	57091	broad.mit.edu	37	20	55033555	55033555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55033555C>T	uc002xxp.2	+	7	2338	c.2113C>T	c.(2113-2115)CAG>TAG	p.Q705*	CASS4_uc002xxr.2_Nonsense_Mutation_p.Q705*|CASS4_uc010zze.1_Nonsense_Mutation_p.Q651*|CASS4_uc010gio.2_Nonsense_Mutation_p.Q268*	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	705					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GATCATCACTCAGAGCAAGCT	0.597		NaN											0	0	0	0.010818	0	27	210				
RAE1	8480	broad.mit.edu	37	20	55949817	55949817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55949817G>A	uc002xyg.2	+	11	1321	c.980G>A	c.(979-981)GGA>GAA	p.G327E	RAE1_uc010gis.1_Missense_Mutation_p.G280E|RAE1_uc010git.1_Missense_Mutation_p.G327E|RAE1_uc002xyh.2_Missense_Mutation_p.G327E|RAE1_uc002xyi.2_Missense_Mutation_p.G327E	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	327					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AATCACAATGGAAACATATTT	0.433		NaN											0	0	0	0.001168	0	5	95				
GNAS	2778	broad.mit.edu	37	20	57429312	57429312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:57429312C>T	uc002xzw.2	+	1	1277	c.992C>T	c.(991-993)GCG>GTG	p.A331V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCCAATCGCGCTTGACGGC	0.647		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	0.004482	0	6	47				
CDH4	1002	broad.mit.edu	37	20	60448856	60448856	+	Missense_Mutation	SNP	G	G	A	rs147810745	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60448856G>A	uc002ybn.1	+	7	964	c.950G>A	c.(949-951)CGG>CAG	p.R317Q	CDH4_uc002ybp.1_Missense_Mutation_p.R243Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	317	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGCGGTACCGGATCGTGACC	0.612		NaN											0	0	0	0.003755	0	31	295				
GTPBP5	26164	broad.mit.edu	37	20	60768599	60768599	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60768599C>T	uc002yce.3	+	2	161	c.123C>T	c.(121-123)CCC>CCT	p.P41P	GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Silent_p.P41P|GTPBP5_uc011aag.1_Silent_p.P41P	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	41	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GGGCTTCTCCCAGGCTGCTCT	0.617		NaN											0	0	0	0.001368	0	12	81				
SLCO4A1	28231	broad.mit.edu	37	20	61300307	61300307	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61300307C>T	uc002ydb.1	+	11	2107	c.1902C>T	c.(1900-1902)TTC>TTT	p.F634F	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Silent_p.F36F	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	634	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATCGCCTTCGGCTGGGTGA	0.657		NaN									OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	9	83				
SLCO4A1	28231	broad.mit.edu	37	20	61303163	61303163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61303163C>T	uc002ydb.1	+	12	2292	c.2087C>T	c.(2086-2088)TCA>TTA	p.S696L	SLCO4A1_uc002ydc.1_Intron|SLCO4A1_uc002yde.1_Missense_Mutation_p.S98L	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	696	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCGGAGTCTTCAGATGGCCTG	0.632		NaN											0	0	0	0.00499	0	17	118				
DIDO1	11083	broad.mit.edu	37	20	61512150	61512150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61512150C>T	uc002ydr.1	-	16	5422	c.5158G>A	c.(5158-5160)GAG>AAG	p.E1720K	DIDO1_uc002yds.1_Missense_Mutation_p.E1720K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1720					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCCCCCTCTGTTTCACCT	0.647		NaN											0	0	0	0.007291	0	20	241				
RTEL1	51750	broad.mit.edu	37	20	62324221	62324221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62324221G>C	uc002yfu.1	+	29	3059	c.2716G>C	c.(2716-2718)GAG>CAG	p.E906Q	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.E906Q|RTEL1_uc011abd.1_Missense_Mutation_p.E930Q|RTEL1_uc011abe.1_Missense_Mutation_p.E683Q|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.E151Q|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	906					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGTGAAGCAGGAGTTGAGCCA	0.652		NaN											0	0	0	0.007413	0	18	193				
ZBTB46	140685	broad.mit.edu	37	20	62421337	62421337	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62421337C>T	uc002ygv.1	-	2	975	c.774G>A	c.(772-774)CAG>CAA	p.Q258Q	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CACCAGCACTCTGCTCTGAGA	0.577		NaN											0	0	0	0.00245	0	11	85				
SOX18	54345	broad.mit.edu	37	20	62680557	62680557	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62680557G>C	uc002yhs.2	-	1	423	c.313C>G	c.(313-315)CAG>GAG	p.Q105E		NM_018419	NP_060889	P35713	SOX18_HUMAN	SRY-box 18	105	HMG box.				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTTCTGCTGAGCCAGCCGC	0.493		NaN											0	0	0	0.006122	0	13	148				
PCMTD2	55251	broad.mit.edu	37	20	62891502	62891502	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62891502C>G	uc002yil.3	+	2	384	c.184C>G	c.(184-186)CAC>GAC	p.H62D	PCMTD2_uc002yim.3_Missense_Mutation_p.H62D	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	62						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAAACATTCACCTCTCAGC	0.483		NaN											0	0	0	0.001368	0	12	107				
N6AMT1	29104	broad.mit.edu	37	21	30257552	30257552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:30257552G>A	uc002ymo.1	-	1	142	c.116C>T	c.(115-117)GCG>GTG	p.A39V	N6AMT1_uc002ymp.1_Missense_Mutation_p.A39V|N6AMT1_uc002ymq.1_RNA	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	39					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0						TTCGGCAGCCGCTGCCTCCAG	0.667		NaN											0	0	0	0.011902	0	16	266				
SFRS15	57466	broad.mit.edu	37	21	33057990	33057990	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:33057990G>C	uc002ypd.2	-	17	2526	c.2100C>G	c.(2098-2100)TTC>TTG	p.F700L	SFRS15_uc002ype.2_Missense_Mutation_p.F700L|SFRS15_uc010glu.2_Missense_Mutation_p.F685L|SFRS15_uc002ypf.1_Missense_Mutation_p.F374L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	700						nucleus	nucleotide binding|RNA binding				0						GAGGAGGCGTGAAAGCAGGCG	0.537		NaN											0	0	0	0.004007	0	13	93				
IL10RB	3588	broad.mit.edu	37	21	34655402	34655402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:34655402C>G	uc002yrk.1	+	5	601	c.502C>G	c.(502-504)CAA>GAA	p.Q168E	IL10RB_uc002yrh.1_Missense_Mutation_p.Q238E|IL10RB_uc002yri.1_Missense_Mutation_p.Q121E|IL10RB_uc002yrl.1_Missense_Mutation_p.Q170E	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	168	Fibronectin type-III.|Extracellular (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						TTACTAGTTTCAAATTACTCC	0.398		NaN											0	0	0	0.00308	0	7	52				
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:37617864G>A	uc002yvg.2	+	19	3665	c.3586G>A	c.(3586-3588)GAG>AAG	p.E1196K	DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1196					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CTCCAGCGACGAGGAGGCGGA	0.617		NaN											0	0	0	0.007413	0	18	47				
HLCS	3141	broad.mit.edu	37	21	38126565	38126565	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38126565G>A	uc010gnb.2	-	11	3364	c.2163C>T	c.(2161-2163)ATC>ATT	p.I721I	HLCS_uc002yvs.2_Silent_p.I721I	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	721					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTTTGGGGAGGATGAGGTTTC	0.577		NaN											0	0	0	0.001368	0	9	66				
HLCS	3141	broad.mit.edu	37	21	38309074	38309074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38309074G>C	uc010gnb.2	-	4	1872	c.671C>G	c.(670-672)TCC>TGC	p.S224C	HLCS_uc002yvs.2_Missense_Mutation_p.S224C|HLCS_uc010gnc.1_Missense_Mutation_p.S371C	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	224					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCGGGAATGGACTCCCTGGT	0.522		NaN											0	0	0	0.003271	0	31	83				
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38461129G>A	uc002yvz.2	+	5	474	c.369G>A	c.(367-369)AAG>AAA	p.K123K	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.K123K|TTC3_uc002ywb.2_Silent_p.K123K|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.K123K	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323		NaN											0	0	0	0.004482	0	7	36				
DSCAM	1826	broad.mit.edu	37	21	41457556	41457556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:41457556C>T	uc002yyq.1	-	23	4557	c.4105G>A	c.(4105-4107)GAA>AAA	p.E1369K	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1369	Extracellular (Potential).|Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAATAATTTCATCAGATCCC	0.378		NaN											0	0	0	0.010504	0	15	68				
UMODL1	89766	broad.mit.edu	37	21	43557560	43557560	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43557560C>A	uc002zaf.1	+	22	3787	c.3787C>A	c.(3787-3789)CAT>AAT	p.H1263N	UMODL1_uc002zad.1_Missense_Mutation_p.H1191N|UMODL1_uc002zae.1_Missense_Mutation_p.H1319N|UMODL1_uc002zag.1_Missense_Mutation_p.H1391N|UMODL1_uc002zal.1_Missense_Mutation_p.H213N|UMODL1_uc010gpa.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1263	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGAGCCTCCTCATGCAGAAGC	0.607		NaN											1	0	1.59361e-14	0.006999	1.70546e-14	33	277				
ABCG1	9619	broad.mit.edu	37	21	43704787	43704787	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43704787C>T	uc002zaq.2	+	7	958	c.852C>T	c.(850-852)TTC>TTT	p.F284F	ABCG1_uc002zan.2_Silent_p.F286F|ABCG1_uc002zam.2_Silent_p.F262F|ABCG1_uc002zao.2_Silent_p.F281F|ABCG1_uc002zap.2_Silent_p.F284F|ABCG1_uc002zar.2_Silent_p.F295F|ABCG1_uc011aev.1_Silent_p.F295F|ABCG1_uc010gpb.1_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	284	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	TCGAGCTGTTCGACCAGGTAC	0.612		NaN											0	0	0	0.00361	0	42	221				
NDUFV3	4731	broad.mit.edu	37	21	44329053	44329053	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:44329053C>G	uc002zcn.2	+	3	315	c.249C>G	c.(247-249)ACC>ACG	p.T83T	NDUFV3_uc002zcm.2_Silent_p.T448T	NM_001001503	NP_001001503	P56181	NDUV3_HUMAN	NADH-ubiquinone oxidoreductase flavoprotein 3	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			ovary(2)	2				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GCACGTACACCTTCTTAGACC	0.557		NaN											0	0	0	0.009535	0	28	360				
RRP1B	23076	broad.mit.edu	37	21	45096216	45096216	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096216G>T	uc002zdk.2	+	7	727	c.613G>T	c.(613-615)GAC>TAC	p.D205Y		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	205					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		GAAGACGAAGGAGTAAGTGAT	0.473		NaN											1	0	1.67942e-08	0.006122	1.77097e-08	12	121				
RRP1B	23076	broad.mit.edu	37	21	45096684	45096684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096684G>A	uc002zdk.2	+	8	799	c.685G>A	c.(685-687)GAA>AAA	p.E229K		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	229					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		TTTTGTGCCTGAAGAGACGAT	0.502		NaN											0	0	0	0.008291	0	8	95				
RRP1B	23076	broad.mit.edu	37	21	45096750	45096750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096750G>C	uc002zdk.2	+	8	865	c.751G>C	c.(751-753)GAA>CAA	p.E251Q		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	251					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		GGAGATACCTGAAAATGAGGT	0.453		NaN											0	0	0	0.00308	0	7	89				
ITGB2	3689	broad.mit.edu	37	21	46321536	46321536	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46321536G>A	uc002zgd.2	-	5	656	c.612C>T	c.(610-612)TTC>TTT	p.F204F	ITGB2_uc002zge.2_Silent_p.F204F|ITGB2_uc002zgf.3_Silent_p.F204F|ITGB2_uc011afl.1_Silent_p.F126F|ITGB2_uc010gpw.2_Silent_p.F147F|ITGB2_uc002zgg.2_Silent_p.F204F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	204	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCACGTGCCTGAAGGCAAACG	0.587		NaN											0	0	0	0.012319	0	18	181				
COL18A1	80781	broad.mit.edu	37	21	46898256	46898256	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46898256G>A	uc011afs.1	+	8	2503	c.2482G>A	c.(2482-2484)GAC>AAC	p.D828N	COL18A1_uc002zhg.2_Missense_Mutation_p.D413N|COL18A1_uc002zhi.2_Missense_Mutation_p.D593N	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	828	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCGGTGAAGACGGAAAGCC	0.527		NaN									OREG0026262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	5	73				
BCL2L13	23786	broad.mit.edu	37	22	18209803	18209803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18209803G>A	uc002zmw.2	+	7	1179	c.961G>A	c.(961-963)GAG>AAG	p.E321K	BCL2L13_uc002zmx.2_Missense_Mutation_p.E159K|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E159K|BCL2L13_uc011agk.1_Missense_Mutation_p.E197K|BCL2L13_uc010gqz.2_Missense_Mutation_p.E41K|BCL2L13_uc002zmz.2_Missense_Mutation_p.E159K|BCL2L13_uc002zna.2_Missense_Mutation_p.E41K	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	321	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		GGGCATGGAAGAGGCTGCTGT	0.557		NaN											0	0	0	0.00308	0	5	36				
MICAL3	57553	broad.mit.edu	37	22	18324667	18324667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18324667C>T	uc002zng.3	-	20	3075	c.2722G>A	c.(2722-2724)GAG>AAG	p.E908K	MICAL3_uc011agl.1_Missense_Mutation_p.E908K|MICAL3_uc002znh.2_Missense_Mutation_p.E908K|MICAL3_uc002znj.1_Missense_Mutation_p.E636K|MICAL3_uc002znk.1_Missense_Mutation_p.E908K|MICAL3_uc002znl.1_Missense_Mutation_p.E541K	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	908	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGGTACCTCCTGCAGTGCC	0.682		NaN											0	0	0	0.009096	0	3	15				
TRMT2A	27037	broad.mit.edu	37	22	20102529	20102529	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:20102529G>A	uc002zrk.1	-	6	1179	c.964C>T	c.(964-966)CGC>TGC	p.R322C	TRMT2A_uc002zrl.1_Missense_Mutation_p.R322C|TRMT2A_uc002zrm.1_Missense_Mutation_p.R144C|TRMT2A_uc002zrn.1_Missense_Mutation_p.R322C|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	322					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						TGGTGGCGGCGGCTGGTGCGC	0.652		NaN											0	0	0	0.004672	0	3	21				
CRKL	1399	broad.mit.edu	37	22	21272303	21272303	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:21272303G>A	uc002ztf.2	+	1	590	c.81G>A	c.(79-81)CGG>CGA	p.R27R	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	27	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAGACCCGGCTCCAGGGCC	0.662		NaN											0	0	0	0.007413	0	15	64				
TOP3B	8940	broad.mit.edu	37	22	22330076	22330076	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:22330076C>T	uc002zvs.2	-	2	441	c.6G>A	c.(4-6)AAG>AAA	p.K2K	TOP3B_uc010gtl.2_Silent_p.K2K|TOP3B_uc002zvt.3_Silent_p.K2K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	2					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGAGCACAGTCTTCATTTTGT	0.493		NaN											0	0	0	0.000602	0	5	45				
RTDR1	27156	broad.mit.edu	37	22	23482428	23482428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:23482428G>C	uc002zwt.2	-	2	338	c.180C>G	c.(178-180)ATC>ATG	p.I60M	RTDR1_uc010gtv.1_Missense_Mutation_p.I60M	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	60							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGCCTTGTAGATACACTCGG	0.557		NaN											0	0	0	0.00308	0	6	53				
SUSD2	56241	broad.mit.edu	37	22	24579478	24579478	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579478C>G	uc002zzn.1	+	3	347	c.303C>G	c.(301-303)ATC>ATG	p.I101M		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	101	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGGACAGCATCCAGACCCTCG	0.627		NaN											0	0	0	0.007835	0	30	256				
SUSD2	56241	broad.mit.edu	37	22	24579487	24579487	+	Silent	SNP	C	C	A	rs143350390	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579487C>A	uc002zzn.1	+	3	356	c.312C>A	c.(310-312)CTC>CTA	p.L104L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	104	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TCCAGACCCTCGGCCATGTGG	0.627		NaN											1	0	2.52637e-11	0.005524	2.68375e-11	30	264				
SUSD2	56241	broad.mit.edu	37	22	24581693	24581693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24581693G>A	uc002zzn.1	+	8	1179	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	379	AMOP.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTGACAGCTGACTCCAGCGG	0.687		NaN											0	0	0	0.001368	0	11	40				
TPST2	8459	broad.mit.edu	37	22	26932283	26932283	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:26932283C>T	uc003acv.2	-	3	1180	c.1012G>A	c.(1012-1014)GAC>AAC	p.D338N	TPST2_uc003acw.2_Missense_Mutation_p.D338N|TPST2_uc003acx.2_Missense_Mutation_p.D338N	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	338	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						ACGAAGGGGTCAGGGTTGCCA	0.572		NaN											0	0	0	0.006214	0	7	73				
GAS2L1	10634	broad.mit.edu	37	22	29706489	29706489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29706489G>A	uc003afa.1	+	3	893	c.694G>A	c.(694-696)GAG>AAG	p.E232K	GAS2L1_uc010gvm.1_Missense_Mutation_p.E232K|GAS2L1_uc003afb.1_Missense_Mutation_p.E232K|GAS2L1_uc003afc.1_Missense_Mutation_p.E232K|GAS2L1_uc003afd.1_Missense_Mutation_p.E232K|GAS2L1_uc003afe.1_Missense_Mutation_p.E232K	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	232	GAR.				cell cycle arrest	cytoplasm|cytoskeleton					0						CAAGGTCTCAGAGGGGAAGTA	0.647		NaN											0	0	0	0.00333	0	19	120				
AP1B1	162	broad.mit.edu	37	22	29737585	29737585	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29737585G>A	uc003afj.2	-	13	1885	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	AP1B1_uc003afi.2_Silent_p.I567I|AP1B1_uc003afk.2_Silent_p.I567I|AP1B1_uc003afl.2_Silent_p.I567I|AP1B1_uc011ako.1_Silent_p.I120I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	567					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CCAGCGTGCCGATGTAGCAGA	0.617		NaN											0	0	0	0.00278	0	17	109				
SF3A1	10291	broad.mit.edu	37	22	30730592	30730592	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:30730592C>T	uc003ahl.2	-	16	2505	c.2373G>A	c.(2371-2373)AGG>AGA	p.R791R		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	791	Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						TCTACTTCTTCCTCCCGCCTC	0.562		NaN											0	0	0	0.00333	0	20	158				
TCN2	6948	broad.mit.edu	37	22	31019015	31019015	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:31019015C>T	uc003aip.1	+	8	1325	c.1167C>T	c.(1165-1167)GCC>GCT	p.A389A	TCN2_uc003aiq.1_Silent_p.A385A|TCN2_uc003air.1_Silent_p.A362A	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	389					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAAGCGGCCGGAGAAAGGG	0.562		NaN											0	0	0	0.010729	0	9	96				
APOL4	80832	broad.mit.edu	37	22	36587672	36587672	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36587672C>T	uc003aox.2	-	6	732	c.507G>A	c.(505-507)CTG>CTA	p.L169L	APOL4_uc003aow.2_Silent_p.L166L|APOL4_uc010gww.2_Silent_p.L11L	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	apolipoprotein L4 isoform 2 precursor	169					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding				0						CAGTAATGCTCAGGCTCAGCC	0.562		NaN											0	0	0	0.000602	0	5	16				
APOL2	23780	broad.mit.edu	37	22	36623580	36623580	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36623580G>C	uc003aoz.2	-	5	1220	c.884C>G	c.(883-885)TCA>TGA	p.S295*	APOL2_uc011amm.1_Nonsense_Mutation_p.S407*|APOL2_uc003apa.2_Nonsense_Mutation_p.S295*	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	295					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						CAAGTGCTTTGACTCATATGC	0.562		NaN											0	0	0	0.00623	0	29	171				
APOL2	23780	broad.mit.edu	37	22	36624083	36624084	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36624083_36624084AG>TA	uc003aoz.2	-	5	716_717	c.380_381CT>TA	c.(379-381)TCT>TTA	p.S127L	APOL2_uc011amm.1_Missense_Mutation_p.S239L|APOL2_uc003apa.2_Missense_Mutation_p.S127L	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	127					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						TCAGGATGCCAGAGGTAGTGCC	0.574		NaN											0	0	0	0.004672	0	14	57				
APOL1	8542	broad.mit.edu	37	22	36661542	36661542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36661542G>C	uc003apf.2	+	6	828	c.660G>C	c.(658-660)TTG>TTC	p.L220F	APOL1_uc011amn.1_Missense_Mutation_p.L97F|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.L236F|APOL1_uc011amo.1_Missense_Mutation_p.L97F|APOL1_uc011amp.1_Missense_Mutation_p.L220F|APOL1_uc011amq.1_Missense_Mutation_p.L202F|APOL1_uc010gwx.2_Missense_Mutation_p.L97F	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	220					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						CAGCCGCTTTGACCGGGATTA	0.557		NaN											0	0	0	0.008871	0	18	126				
MYH9	4627	broad.mit.edu	37	22	36698620	36698620	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36698620G>A	uc003apg.2	-	20	2724	c.2493C>T	c.(2491-2493)TTC>TTT	p.F831F	MYH9_uc003aph.1_Silent_p.F695F	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	831					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GCACCTTGGTGAAGAGCCGCC	0.373		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.010818	0	23	127				
APOBEC3B	9582	broad.mit.edu	37	22	39387537	39387537	+	Silent	SNP	C	C	T	rs144471703		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:39387537C>T	uc003awo.1	+	6	978	c.924C>T	c.(922-924)TTC>TTT	p.F308F	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F283F|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	308					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572		NaN											0	0	0	0.00623	0	32	173				
EP300	2033	broad.mit.edu	37	22	41562613	41562613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41562613G>A	uc003azl.3	+	23	4212	c.3817G>A	c.(3817-3819)GAT>AAT	p.D1273N		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1273					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATTCGTCTGTGATGGCTGTTT	0.254		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.009096	0	3	18		Valid		
TCF20	6942	broad.mit.edu	37	22	42606365	42606365	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:42606365G>A	uc003bcj.1	-	1	5081	c.4947C>T	c.(4945-4947)ATC>ATT	p.I1649I	TCF20_uc003bck.1_Silent_p.I1649I|TCF20_uc003bnt.2_Silent_p.I1649I	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CAGCATTGATGATTGTACAAA	0.478		NaN											0	0	0	0.010771	0	34	146				
CELSR1	9620	broad.mit.edu	37	22	46930976	46930976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:46930976C>T	uc003bhw.1	-	1	2092	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	698	Extracellular (Potential).|Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCATCCTCATTCAGACGA	0.637		NaN											0	0	0	0.004482	0	8	45				
SBF1	6305	broad.mit.edu	37	22	50893737	50893737	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50893737G>C	uc003blh.2	-	33	4665	c.4470C>G	c.(4468-4470)TTC>TTG	p.F1490L	SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.F1128L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1464	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGGCTGAAGCGATGGC	0.642		NaN											0	0	0	0.003163	0	13	68				
ADM2	79924	broad.mit.edu	37	22	50921131	50921131	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50921131C>T	uc003blj.2	+	2	511	c.246C>T	c.(244-246)CTC>CTT	p.L82L	ADM2_uc011ary.1_Silent_p.L82L	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2 precursor	82					positive regulation of angiogenesis	extracellular region	hormone activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCAGCCTCTCCGGGATGGTG	0.716		NaN											0	0	0	0.001984	0	6	34				
CHKB	1120	broad.mit.edu	37	22	51017894	51017894	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:51017894G>T	uc003bms.2	-	10	1292	c.1074C>A	c.(1072-1074)ATC>ATA	p.I358I	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'UTR|CHKB-CPT1B_uc003bmt.1_Silent_p.I149I|CHKB-CPT1B_uc003bmu.2_Silent_p.I237I|CHKB_uc003bmv.2_Silent_p.I358I	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	358					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATGCCTGGAGGATGGACCACA	0.562		NaN											1	0	7.48243e-07	0.006214	7.82034e-07	6	45				
ATG7	10533	broad.mit.edu	37	3	11404346	11404346	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:11404346G>A	uc003bwc.2	+	15	1860	c.1743G>A	c.(1741-1743)GTG>GTA	p.V581V	ATG7_uc003bwd.2_Silent_p.V581V|ATG7_uc011aum.1_Silent_p.V542V	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	581					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						GACTGGCCGTGATTGCAGGAG	0.488		NaN											0	0	0	0.004482	0	8	73				
NUP210	23225	broad.mit.edu	37	3	13401905	13401905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:13401905G>A	uc003bxv.1	-	15	2102	c.2019C>T	c.(2017-2019)CTC>CTT	p.L673L	NUP210_uc003bxx.2_Silent_p.L345L	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	673	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TGGACGGCTCGAGGATCCAAG	0.562		NaN											0	0	0	0.00623	0	37	40				
SLC6A6	6533	broad.mit.edu	37	3	14509714	14509714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:14509714G>A	uc010heg.2	+	16	1381	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	SLC6A6_uc003byq.2_Missense_Mutation_p.E364K|SLC6A6_uc003byr.2_Intron	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	364					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						TGATGTGGCTGAGTCAGGTAC	0.547		NaN									OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	4	25				
COLQ	8292	broad.mit.edu	37	3	15512080	15512080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:15512080C>T	uc003bzx.2	-	11	806	c.680G>A	c.(679-681)CGA>CAA	p.R227Q	COLQ_uc003bzv.2_Missense_Mutation_p.R217Q|COLQ_uc003bzz.2_Missense_Mutation_p.R218Q|COLQ_uc010heo.2_Missense_Mutation_p.R193Q|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.R86Q|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	227	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0						TGTGGGTCCTCGGTGTCCTGC	0.552		NaN											0	0	0	0.009535	0	24	83				
DPH3	285381	broad.mit.edu	37	3	16306335	16306335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:16306335C>T	uc003cau.2	-	1	162	c.49G>A	c.(49-51)GAG>AAG	p.E17K	DPH3_uc003cat.3_5'Flank|DPH3_uc003cav.2_Missense_Mutation_p.E17K|OXNAD1_uc010her.1_5'Flank|OXNAD1_uc003caw.2_5'Flank|OXNAD1_uc003cax.2_5'Flank	NM_206831	NP_996662	Q96FX2	DPH3_HUMAN	zinc finger, CSL domain containing 2 isoform 1	17	DPH-type.				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding				0						TCCGAGTCCTCGTCATATTGG	0.582		NaN											0	0	0	0.000602	0	4	83				
NGLY1	55768	broad.mit.edu	37	3	25805781	25805781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:25805781G>A	uc003cdl.2	-	3	376	c.268C>T	c.(268-270)CCT>TCT	p.P90S	NGLY1_uc010hfg.2_Missense_Mutation_p.P90S|NGLY1_uc003cdm.2_Missense_Mutation_p.P90S|NGLY1_uc011awo.1_Missense_Mutation_p.P48S|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	90	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						GCTTTTTTAGGAAAGATGAGA	0.373		NaN											0	0	0	0.010729	0	10	92				
NEK10	152110	broad.mit.edu	37	3	27333022	27333022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:27333022C>T	uc003cdt.1	-	18	1703	c.1429G>A	c.(1429-1431)GAT>AAT	p.D477N	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	477							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCACTGATATCACGTACATAA	0.373		NaN											0	0	0	0.004482	0	7	36				
FBXL2	25827	broad.mit.edu	37	3	33414612	33414612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33414612G>A	uc003cfp.2	+	6	390	c.319G>A	c.(319-321)GAA>AAA	p.E107K	FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Missense_Mutation_p.E23K|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	107	LRR 2.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			large_intestine(1)	1						CCGAAACATTGAACATTTGAA	0.423		NaN											0	0	0	0.00361	0	48	112				
CLASP2	23122	broad.mit.edu	37	3	33558526	33558526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33558526C>T	uc003cfu.2	-	34	4282	c.3928G>A	c.(3928-3930)GAA>AAA	p.E1310K	CLASP2_uc003cfs.2_Missense_Mutation_p.E517K|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.E910K	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1319										ovary(3)|central_nervous_system(1)	4						TTGAAGTGTTCATCCCAAACA	0.363		NaN											0	0	0	0.00333	0	16	58				
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47619161C>T	uc003crp.3	-	2	531	c.355G>A	c.(355-357)GAT>AAT	p.D119N	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	119	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692		NaN											0	0	0	0.00361	0	50	88				
MAP4	4134	broad.mit.edu	37	3	47958225	47958225	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47958225T>C	uc003csb.2	-	7	1618	c.1092A>G	c.(1090-1092)TTA>TTG	p.L364L	MAP4_uc003csc.3_Silent_p.L364L|MAP4_uc011bbf.1_Silent_p.L341L|MAP4_uc003csf.3_Silent_p.L381L	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	364	26 residues 1.|17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGGGCTAAGTCCATTT	0.478		NaN											0	0	0	0.004672	0	3	119				
IP6K2	51447	broad.mit.edu	37	3	48726994	48726994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:48726994C>T	uc003cup.2	-	5	1001	c.757G>A	c.(757-759)GGT>AGT	p.G253S	IP6K2_uc003cuq.2_Missense_Mutation_p.G253S	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	253					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						ACACGCACACCAATGACTGCA	0.547		NaN											0	0	0	0.003271	0	25	125				
P4HTM	54681	broad.mit.edu	37	3	49039971	49039971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:49039971G>A	uc003cvg.2	+	4	1015	c.666G>A	c.(664-666)ATG>ATA	p.M222I	P4HTM_uc003cvh.2_Missense_Mutation_p.M222I|P4HTM_uc010hkm.1_Missense_Mutation_p.M108I	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	222	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GATGGTGGATGACTCCAGAGA	0.577		NaN											0	0	0	0.00361	0	66	222				
SEMA3F	6405	broad.mit.edu	37	3	50214234	50214234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50214234G>A	uc003cyj.2	+	7	781	c.583G>A	c.(583-585)GAG>AAG	p.E195K	SEMA3F_uc003cyk.2_Missense_Mutation_p.E164K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	195	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGAGCGACTCGAGTCAGGGAA	0.597		NaN											0	0	0	0.004656	0	19	263				
HYAL3	8372	broad.mit.edu	37	3	50331093	50331093	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50331093G>C	uc003czd.1	-	3	1227	c.954C>G	c.(952-954)CTC>CTG	p.L318L	HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Silent_p.L69L|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	318					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTCCCCCCAGAGCACCACGC	0.632		NaN											0	0	0	0.00361	0	56	169				
STAB1	23166	broad.mit.edu	37	3	52557550	52557550	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:52557550C>T	uc003dej.2	+	65	7322	c.7248C>T	c.(7246-7248)ATC>ATT	p.I2416I	STAB1_uc003dek.1_Silent_p.I431I|STAB1_uc003del.2_Silent_p.I303I	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2416	Extracellular (Potential).|FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCCTCATCATCAGTGACG	0.647		NaN											0	0	0	0.010504	0	17	57				
CACNA1D	776	broad.mit.edu	37	3	53844150	53844150	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:53844150C>G	uc003dgv.3	+	47	6180	c.6017C>G	c.(6016-6018)TCA>TGA	p.S2006*	CACNA1D_uc003dgu.3_Nonsense_Mutation_p.S2026*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.S1982*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.S1673*|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2006	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGGAGCAGTCAGAGGCCCTG	0.657		NaN											0	0	0	0.001984	0	6	83				
C3orf63	23272	broad.mit.edu	37	3	56657229	56657229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:56657229G>C	uc003did.3	-	23	4767	c.4666C>G	c.(4666-4668)CAG>GAG	p.Q1556E	C3orf63_uc003dib.3_Missense_Mutation_p.Q675E|C3orf63_uc003dic.3_Missense_Mutation_p.Q1180E|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1617										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AAAAATGTCTGATGAGTGAGA	0.333		NaN											0	0	0	0.001984	0	6	46				
CADM2	253559	broad.mit.edu	37	3	85961684	85961684	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:85961684G>C	uc003dqj.2	+	5	1290	c.664G>C	c.(664-666)GAA>CAA	p.E222Q	CADM2_uc003dqk.2_Missense_Mutation_p.E231Q|CADM2_uc003dql.2_Missense_Mutation_p.E224Q	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	222	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCAGGTGCTAGAAATACACTG	0.468		NaN											0	0	0	0.004482	0	7	60				
OR5K4	403278	broad.mit.edu	37	3	98073347	98073347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:98073347C>G	uc011bgv.1	+	1	650	c.650C>G	c.(649-651)TCT>TGT	p.S217C		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GTCTTGATCTCTTATCTCTGC	0.353		NaN											0	0	0	0.004672	0	3	22				
FAM55C	91775	broad.mit.edu	37	3	101520284	101520284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:101520284G>A	uc003dvn.2	+	5	936	c.299G>A	c.(298-300)AGC>AAC	p.S100N	FAM55C_uc010hpn.2_Missense_Mutation_p.S100N	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	100						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						TTTGTGAAGAGCACTGACCCT	0.557		NaN											0	0	0	0.001855	0	11	73				
PHLDB2	90102	broad.mit.edu	37	3	111603754	111603754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:111603754C>G	uc010hqa.2	+	2	1241	c.830C>G	c.(829-831)TCT>TGT	p.S277C	PHLDB2_uc003dyc.2_Missense_Mutation_p.S304C|PHLDB2_uc003dyd.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyg.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyh.2_Missense_Mutation_p.S277C|PHLDB2_uc003dye.3_Missense_Mutation_p.S277C|PHLDB2_uc003dyf.3_Missense_Mutation_p.S277C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	277						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CCAAGAAACTCTCTGGGCAAT	0.473		NaN											0	0	0	0.006214	0	8	21				
WDR52	55779	broad.mit.edu	37	3	113128161	113128161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:113128161C>T	uc003eae.1	-	7	728	c.682G>A	c.(682-684)GAG>AAG	p.E228K		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	228	WD 1.									central_nervous_system(1)	1						TATCCCTTCTCAGTCCCATCT	0.398		NaN											0	0	0	0.001984	0	5	33				
LSAMP	4045	broad.mit.edu	37	3	115560818	115560818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:115560818C>G	uc003ebt.2	-	6	1293	c.793G>C	c.(793-795)GAG>CAG	p.E265Q	LSAMP_uc011bis.1_Missense_Mutation_p.E265Q	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	265	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCTTAATCTCAAGGCCATTG	0.483		NaN											0	0	0	0.00308	0	6	51				
FSTL1	11167	broad.mit.edu	37	3	120128498	120128498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:120128498G>A	uc003eds.2	-	6	518	c.343C>T	c.(343-345)CAG>TAG	p.Q115*	FSTL1_uc011bjh.1_Nonsense_Mutation_p.Q80*	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	115					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		CGGTTGGACTGATAGCAAACA	0.542		NaN											0	0	0	0.006122	0	13	52				
HSPBAP1	79663	broad.mit.edu	37	3	122459618	122459618	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122459618C>T	uc003efu.1	-	8	1164	c.1041G>A	c.(1039-1041)CTG>CTA	p.L347L	HSPBAP1_uc003eft.1_Silent_p.L58L	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	347						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CATCTGTTCTCAGTGCTTGGA	0.448		NaN											0	0	0	0.00278	0	21	152				
SEMA5B	54437	broad.mit.edu	37	3	122667551	122667551	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122667551G>A	uc003efz.1	-	3	434	c.130C>T	c.(130-132)CTC>TTC	p.L44F	SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.L44F|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	44	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGACAGGGGAGAAGACCTGCA	0.592		NaN											0	0	0	0.001168	0	5	46				
ADCY5	111	broad.mit.edu	37	3	123014973	123014973	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:123014973C>T	uc003egh.1	-	17	3021	c.3021G>A	c.(3019-3021)CAG>CAA	p.Q1007Q	ADCY5_uc003egg.1_Silent_p.Q665Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1007	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGGACTCCACCTGCTGGGCGT	0.632		NaN											0	0	0	0.00278	0	19	126				
KALRN	8997	broad.mit.edu	37	3	124181431	124181431	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124181431G>C	uc003ehg.2	+	25	4103	c.3976G>C	c.(3976-3978)GAG>CAG	p.E1326Q	KALRN_uc010hrv.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehf.1_Missense_Mutation_p.E1326Q|KALRN_uc011bjy.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehh.1_Missense_Mutation_p.E672Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1326	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CCTCAATAAAGAGCATATCAT	0.473		NaN											0	0	0	0.004482	0	5	42				
KALRN	8997	broad.mit.edu	37	3	124211637	124211637	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124211637G>A	uc003ehg.2	+	32	4861	c.4734G>A	c.(4732-4734)GTG>GTA	p.V1578V	KALRN_uc010hrv.1_Silent_p.V1569V|KALRN_uc003ehf.1_Silent_p.V1578V|KALRN_uc011bjy.1_Silent_p.V1569V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1578	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TTCGAGAAGTGATTCAAGAAA	0.468		NaN											0	0	0	0.004482	0	7	87				
UMPS	7372	broad.mit.edu	37	3	124456651	124456651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456651C>T	uc003ehl.3	+	3	653	c.547C>T	c.(547-549)CTC>TTC	p.L183F	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Missense_Mutation_p.L91F|UMPS_uc011bkc.1_Missense_Mutation_p.L5F|UMPS_uc003ehn.3_Missense_Mutation_p.L5F|UMPS_uc011bkd.1_Missense_Mutation_p.L5F	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	183	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GCTGGAGATTCTCGAGCAGCA	0.498		NaN											0	0	0	0.006214	0	7	33				
UMPS	7372	broad.mit.edu	37	3	124456779	124456779	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456779C>G	uc003ehl.3	+	3	781	c.675C>G	c.(673-675)CTC>CTG	p.L225L	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L47L|UMPS_uc011bkb.1_Silent_p.L133L|UMPS_uc011bkc.1_Silent_p.L47L|UMPS_uc003ehn.3_Silent_p.L47L|UMPS_uc011bkd.1_Silent_p.L47L	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	225	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		CCAAAGAACTCAGCTTCGGTG	0.483		NaN											0	0	0	0.000602	0	4	32				
UMPS	7372	broad.mit.edu	37	3	124456864	124456864	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456864C>T	uc003ehl.3	+	3	866	c.760C>T	c.(760-762)CTG>TTG	p.L254L	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L76L|UMPS_uc011bkb.1_Silent_p.L162L|UMPS_uc011bkc.1_Silent_p.L76L|UMPS_uc003ehn.3_Silent_p.L76L|UMPS_uc011bkd.1_Silent_p.L76L	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	254	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GGAGACCAATCTGTGTCTATC	0.488		NaN											0	0	0	0.001368	0	9	74				
CCDC37	348807	broad.mit.edu	37	3	126135240	126135240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126135240C>T	uc003eiu.1	+	5	406	c.307C>T	c.(307-309)CGG>TGG	p.R103W	CCDC37_uc010hsg.1_Missense_Mutation_p.R103W	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	103	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CACCAGCCTGCGGCGGCAGCT	0.662		NaN											0	0	0	0.006214	0	7	68				
ZXDC	79364	broad.mit.edu	37	3	126193835	126193835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126193835C>G	uc003eiv.2	-	1	928	c.874G>C	c.(874-876)GAG>CAG	p.E292Q	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E292Q	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	292					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CGCTCGGGCTCGAAGTGGCTG	0.687		NaN											0	0	0	0.004672	0	2	11				
COPG	22820	broad.mit.edu	37	3	128991687	128991687	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:128991687C>G	uc003els.2	+	21	2296	c.2196C>G	c.(2194-2196)GTC>GTG	p.V732V	COPG_uc010htb.2_Silent_p.V638V	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	732	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						AGTTCACTGTCAAGGACTGTG	0.547		NaN											0	0	0	0.00245	0	11	67				
DNAJC13	23317	broad.mit.edu	37	3	132215491	132215491	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:132215491C>T	uc003eor.2	+	36	4205	c.4140C>T	c.(4138-4140)TTC>TTT	p.F1380F		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1380							heat shock protein binding			ovary(1)|breast(1)	2						GCATCCTCTTCAACCGTCATA	0.338		NaN											0	0	0	0.001168	0	5	27				
EPHB1	2047	broad.mit.edu	37	3	134873013	134873013	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:134873013C>G	uc003eqt.2	+	6	1537	c.1317C>G	c.(1315-1317)ATC>ATG	p.I439M	EPHB1_uc003equ.2_Translation_Start_Site	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	439	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CCGTTCCCATCATGCACCAAG	0.537		NaN											0	0	0	0.00874	0	34	278				
TMEM22	80723	broad.mit.edu	37	3	136574265	136574265	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:136574265C>G	uc003erf.3	+	2	1177	c.963C>G	c.(961-963)CTC>CTG	p.L321L	TMEM22_uc003erg.3_Silent_p.L321L|TMEM22_uc010hub.2_Silent_p.L321L	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	321	DUF6 2.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						GGAGTTATCTCATTGCTATAT	0.388		NaN											0	0	0	0.003954	0	22	208				
DZIP1L	199221	broad.mit.edu	37	3	137790534	137790534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:137790534C>T	uc003erq.2	-	12	1929	c.1566G>A	c.(1564-1566)GAG>GAA	p.E522E	DZIP1L_uc003err.1_Silent_p.E522E	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	522						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCTCCTGTCTCTCCTTCGCTC	0.582		NaN											0	0	0	0.003163	0	12	96				
PRR23A	729627	broad.mit.edu	37	3	138724388	138724388	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:138724388C>T	uc011bms.1	-	1	723	c.723G>A	c.(721-723)GGG>GGA	p.G241G		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	proline rich 23A	241	Pro-rich.										0						GACCTGGACTCCCCACGCGCG	0.652		NaN											0	0	0	0.004672	0	2	1				
HLTF	6596	broad.mit.edu	37	3	148773120	148773120	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:148773120G>C	uc003ewq.1	-	14	1661	c.1443C>G	c.(1441-1443)ATC>ATG	p.I481M	HLTF_uc003ewr.1_Missense_Mutation_p.I481M|HLTF_uc003ews.1_Missense_Mutation_p.I480M|HLTF_uc010hve.1_Missense_Mutation_p.I480M	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	481	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAAGCGGACAGATGATCAGTG	0.363		NaN											0	0	0	0.00245	0	10	62				
CLRN1	7401	broad.mit.edu	37	3	150659542	150659542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150659542G>A	uc003eyk.1	-	2	551	c.260C>T	c.(259-261)CCA>CTA	p.P87L	CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.P11L|CLRN1_uc010hvj.1_RNA	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	87					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCAAATCTGGAAAAACTGA	0.368		NaN											0	0	0	0.009096	0	3	21				
MED12L	116931	broad.mit.edu	37	3	150903167	150903167	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150903167G>T	uc003eyp.2	+	11	1583	c.1545G>T	c.(1543-1545)GTG>GTT	p.V515V	MED12L_uc011bnz.1_Silent_p.V375V|MED12L_uc003eyn.2_Silent_p.V515V|MED12L_uc003eyo.2_Silent_p.V515V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	515					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGGCCGTGAGCTGCAAAC	0.517		NaN											1	0	2.27111e-07	0.001368	2.37751e-07	10	96				
IGSF10	285313	broad.mit.edu	37	3	151155890	151155890	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151155890G>A	uc011bod.1	-	6	6459	c.6459C>T	c.(6457-6459)ATC>ATT	p.I2153I	IGSF10_uc011bob.1_Silent_p.I180I|IGSF10_uc011boc.1_Silent_p.I132I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2153	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAGCTTTGATTCTCTTGT	0.453		NaN											0	0	0	0.010729	0	9	42				
IGSF10	285313	broad.mit.edu	37	3	151166756	151166756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151166756G>C	uc011bod.1	-	4	1013	c.1013C>G	c.(1012-1014)TCA>TGA	p.S338*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	338					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCCTTGAGGGCTTTTG	0.413		NaN											0	0	0	0.001855	0	11	76				
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:184870595G>A	uc003fpd.2	-	1	208	c.17C>T	c.(16-18)TCG>TTG	p.S6L		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	6											0						CGACGCCGGCGAGGCCGCCGC	0.716		NaN											0	0	0	0.004482	0	6	35				
LPP	4026	broad.mit.edu	37	3	188327106	188327106	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:188327106T>C	uc003frs.1	+	6	833	c.587T>C	c.(586-588)ATC>ACC	p.I196T	LPP_uc011bsg.1_Missense_Mutation_p.I196T|LPP_uc011bsi.1_Missense_Mutation_p.I196T|LPP_uc003frt.2_Missense_Mutation_p.I196T|LPP_uc011bsj.1_Missense_Mutation_p.I33T	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	196	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGGCTCCAATCGGAACACTC	0.562		NaN	T	HMGA2|MLL|C12orf9	lipoma|leukemia								0	0	0	0.008361	0	28	132				
CCDC50	152137	broad.mit.edu	37	3	191100573	191100573	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191100573G>A	uc003fsw.2	+	9	1343	c.753G>A	c.(751-753)GAG>GAA	p.E251E	CCDC50_uc003fsv.2_Silent_p.E427E	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	251						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTCAAAAGAGAGTGATGAAC	0.373		NaN											0	0	0	0.001168	0	3	30				
PYDC2	152138	broad.mit.edu	37	3	191178959	191178959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191178959C>T	uc011bso.1	+	1	8	c.8C>T	c.(7-9)TCT>TTT	p.S3F		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	3	DAPIN.					cytoplasm|nucleus					0						AAGATGGCATCTTCTGCAGAG	0.428		NaN											0	0	0	0.001855	0	8	63				
ATP13A4	84239	broad.mit.edu	37	3	193130105	193130105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193130105G>A	uc003ftd.2	-	27	3178	c.3070C>T	c.(3070-3072)CCA>TCA	p.P1024S	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1024	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTTTTTCTGGAGCAGTTGGA	0.408		NaN											0	0	0	0.00333	0	18	139				
HES1	3280	broad.mit.edu	37	3	193855682	193855682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193855682C>T	uc003ftq.1	+	4	739	c.503C>T	c.(502-504)CCG>CTG	p.P168L		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	168	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCGCCGCCACCGCCCCCACCG	0.627		NaN											0	0	0	0.001855	0	7	106				
ATP13A3	79572	broad.mit.edu	37	3	194146180	194146180	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:194146180T>C	uc003fty.3	-	29	3606	c.3204A>G	c.(3202-3204)ATA>ATG	p.I1068M	ATP13A3_uc003ftx.3_Translation_Start_Site	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	1068					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATAATTTTGTATATTATGTT	0.358		NaN											0	0	0	0.00308	0	6	35				
ACAP2	23527	broad.mit.edu	37	3	195053852	195053852	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:195053852T>A	uc003fun.3	-	8	815	c.574A>T	c.(574-576)ATG>TTG	p.M192L		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	192	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AATGACAACATCTAATAGGGA	0.279		NaN											0	0	0	0.001855	0	12	57				
PIGG	54872	broad.mit.edu	37	4	499636	499636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:499636G>A	uc003gak.3	+	3	626	c.490G>A	c.(490-492)GAA>AAA	p.E164K	PIGG_uc003gaj.3_Missense_Mutation_p.E164K|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.E75K|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.E42K|PIGG_uc003gam.2_Missense_Mutation_p.E75K|PIGG_uc003gan.2_Missense_Mutation_p.E75K	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	164	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTATGGAGATGAAACCTGGGT	0.383		NaN											0	0	0	0.00308	0	7	54				
KIAA1530	57654	broad.mit.edu	37	4	1343568	1343568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1343568G>A	uc003gde.3	+	3	802	c.355G>A	c.(355-357)GGG>AGG	p.G119R		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	119											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GGCCGTGGAAGGGTGGAATGA	0.612		NaN											0	0	0	0.00308	0	5	31				
WHSC1	7468	broad.mit.edu	37	4	1940246	1940246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1940246C>G	uc003gdz.3	+	8	1919	c.1743C>G	c.(1741-1743)CTC>CTG	p.L581L	WHSC1_uc003geb.3_Silent_p.L581L|WHSC1_uc003gec.3_Silent_p.L581L|WHSC1_uc003ged.3_Silent_p.L581L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'Flank|WHSC1_uc003gdy.1_Silent_p.L581L|WHSC1_uc010icd.1_Silent_p.L581L|WHSC1_uc003gea.1_Silent_p.L581L|WHSC1_uc010ice.1_Silent_p.L581L|WHSC1_uc003geh.1_Silent_p.L581L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	581					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCCTCGCTCAAGAGCCAGG	0.498		NaN	T	IGH@	MM								0	0	0	0.001855	0	10	86				
FAM193A	8603	broad.mit.edu	37	4	2673965	2673965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:2673965G>C	uc010icl.2	+	11	1675	c.1324G>C	c.(1324-1326)GAG>CAG	p.E442Q	FAM193A_uc010ick.2_Missense_Mutation_p.E642Q|FAM193A_uc003gfd.2_Missense_Mutation_p.E442Q|FAM193A_uc011bvm.1_Missense_Mutation_p.E464Q|FAM193A_uc011bvn.1_Missense_Mutation_p.E442Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E296Q	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	442										ovary(3)	3						CTTGAGCCCAGAGAAGCCCAC	0.552		NaN											0	0	0	0.001368	0	11	85				
LRPAP1	4043	broad.mit.edu	37	4	3516565	3516565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:3516565C>G	uc003ghi.2	-	7	1010	c.925G>C	c.(925-927)GAG>CAG	p.E309Q		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	309	LDL receptor binding (Potential).|Potential.				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCCACGCTCTCTGCGTGCCTC	0.632		NaN											0	0	0	0.010504	0	19	148				
CRMP1	1400	broad.mit.edu	37	4	5827255	5827255	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:5827255G>A	uc003gip.2	-	14	1694	c.1593C>T	c.(1591-1593)ATC>ATT	p.I531I	EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Silent_p.I443I|CRMP1_uc003giq.2_Silent_p.I531I|CRMP1_uc003gir.2_Silent_p.I526I|CRMP1_uc003gis.2_Silent_p.I645I	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	531					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		GGAGGTTTCTGATGGGTGGGG	0.547		NaN											0	0	0	0.004007	0	13	80				
GRPEL1	80273	broad.mit.edu	37	4	7062677	7062677	+	Missense_Mutation	SNP	C	C	T	rs144832422	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:7062677C>T	uc003gjy.1	-	4	607	c.566G>A	c.(565-567)GGC>GAC	p.G189D	GRPEL1_uc003gjz.1_3'UTR	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	189					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						GGCCACTGTGCCTGGCTCCTT	0.567		NaN											0	0	0	0.011902	0	43	255				
ANAPC4	29945	broad.mit.edu	37	4	25395483	25395483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:25395483G>C	uc003gro.2	+	11	975	c.846G>C	c.(844-846)CAG>CAC	p.Q282H	ANAPC4_uc003grp.2_Missense_Mutation_p.Q167H|ANAPC4_uc010iet.1_Intron|ANAPC4_uc010ieu.1_Missense_Mutation_p.Q91H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	282					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				TACTAATGCAGATGGATTCTC	0.333		NaN											0	0	0	0.001984	0	4	43				
RBPJ	3516	broad.mit.edu	37	4	26432520	26432520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:26432520C>T	uc003grx.1	+	12	1630	c.1394C>T	c.(1393-1395)TCA>TTA	p.S465L	RBPJ_uc003gry.1_Missense_Mutation_p.S450L|RBPJ_uc003grz.1_Missense_Mutation_p.S465L|RBPJ_uc003gsa.1_Missense_Mutation_p.S451L|RBPJ_uc003gsb.1_Missense_Mutation_p.S452L|RBPJ_uc003gsc.1_3'UTR|uc003gsd.2_5'Flank	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	465					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				CGAGCCAATTCAAGCCAGGTG	0.507		NaN											0	0	0	0.010729	0	10	69				
FAM114A1	92689	broad.mit.edu	37	4	38910248	38910248	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:38910248G>A	uc003gtn.2	+	7	869	c.693G>A	c.(691-693)TTG>TTA	p.L231L	FAM114A1_uc011byh.1_Silent_p.L24L	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	231						cytoplasm				ovary(1)	1						TTGATGCGTTGGAATTCATCG	0.468		NaN											0	0	0	0.001984	0	7	64				
KLHL5	51088	broad.mit.edu	37	4	39116803	39116803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39116803G>A	uc003gts.2	+	10	2139	c.2064G>A	c.(2062-2064)TGG>TGA	p.W688*	KLHL5_uc003gtp.2_Nonsense_Mutation_p.W642*|KLHL5_uc003gtq.2_Nonsense_Mutation_p.W501*|KLHL5_uc003gtr.1_Nonsense_Mutation_p.W688*|KLHL5_uc003gtt.2_Nonsense_Mutation_p.W627*	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	688	Kelch 5.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1						CAGACATGTGGACTGCAGTAG	0.398		NaN											0	0	0	0.008291	0	7	82				
KLB	152831	broad.mit.edu	37	4	39448748	39448748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39448748C>G	uc003gua.2	+	4	2499	c.2402C>G	c.(2401-2403)TCG>TGG	p.S801W	KLB_uc011byj.1_Missense_Mutation_p.S792W	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	801	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CTTTCCAGCTCGGCCCTGCCG	0.647		NaN											0	0	0	0.00499	0	16	74				
RHOH	399	broad.mit.edu	37	4	40245012	40245012	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:40245012G>C	uc003guz.2	+	3	730	c.6G>C	c.(4-6)CTG>CTC	p.L2L		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	2					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						GGAAGATGCTGAGTTCCATCA	0.582		NaN											0	0	0	0.007413	0	16	88				
KDR	3791	broad.mit.edu	37	4	55968637	55968637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:55968637G>A	uc003has.2	-	14	2328	c.2026C>T	c.(2026-2028)CAG>TAG	p.Q676*	KDR_uc003hat.1_Nonsense_Mutation_p.Q676*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	676	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTCGTCTGATTCTCCAGG	0.438		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.000602	0	4	15				
KIAA1211	57482	broad.mit.edu	37	4	57179512	57179512	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57179512G>A	uc003hbk.2	+	7	895	c.504G>A	c.(502-504)CAG>CAA	p.Q168Q	KIAA1211_uc010iha.2_Silent_p.Q161Q|KIAA1211_uc011bzz.1_Silent_p.Q78Q|KIAA1211_uc003hbm.1_Silent_p.Q54Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	168										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CAAAAAAACAGAGGGTGTCAA	0.567		NaN											0	0	0	0.001855	0	12	102				
SPINK2	6691	broad.mit.edu	37	4	57677932	57677932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57677932C>T	uc003hcg.1	-	3	193	c.128G>A	c.(127-129)GGA>GAA	p.G43E		NM_021114	NP_066937	P20155	ISK2_HUMAN	serine protease inhibitor, Kazal type 2	43	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0	Glioma(25;0.08)|all_neural(26;0.181)					TCTGGGACATCCTGGTAATCT	0.393		NaN											0	0	0	0.00278	0	19	134				
C4orf14	84273	broad.mit.edu	37	4	57829640	57829640	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57829640C>A	uc003hck.2	-	7	2148	c.2073G>T	c.(2071-2073)AAG>AAT	p.K691N		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	691							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					TTCCTTTCTTCTTCCTCACGT	0.358		NaN											1	0	2.39556e-15	0.00278	2.57008e-15	21	88				
ANKRD17	26057	broad.mit.edu	37	4	74019627	74019627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:74019627C>G	uc003hgp.2	-	6	1321	c.1204G>C	c.(1204-1206)GAG>CAG	p.E402Q	ANKRD17_uc003hgo.2_Missense_Mutation_p.E289Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.E402Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.E402Q|ANKRD17_uc011cbd.1_Missense_Mutation_p.E31Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	402	ANK 6.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGGCACTCTCTTTAAATTCA	0.348		NaN											0	0	0	0.004482	0	6	57				
PPEF2	5470	broad.mit.edu	37	4	76817437	76817437	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76817437C>T	uc003hix.2	-	2	399	c.42G>A	c.(40-42)CAG>CAA	p.Q14Q	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.Q14Q	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	14					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTGCATTCTGGAAAGCAA	0.527		NaN									OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00278	0	16	105				
SDAD1	55153	broad.mit.edu	37	4	76882204	76882204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76882204G>A	uc003hje.3	-	16	1452	c.1333C>T	c.(1333-1335)CAG>TAG	p.Q445*	SDAD1_uc003hjf.3_Nonsense_Mutation_p.Q348*|SDAD1_uc011cbr.1_Nonsense_Mutation_p.Q408*	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	445					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCAGCATCTGAGGATTCAGT	0.363		NaN											0	0	0	0.007413	0	14	99				
PRKG2	5593	broad.mit.edu	37	4	82065388	82065388	+	Silent	SNP	C	C	T	rs112801782	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:82065388C>T	uc003hmh.2	-	9	1265	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.A417A	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	417	cGMP 2.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						CCACTTACTTCGCATGTCTTT	0.428		NaN											0	0	0	0.004482	0	7	34				
PTPN13	5783	broad.mit.edu	37	4	87730928	87730928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:87730928G>C	uc003hpz.2	+	46	7570	c.7090G>C	c.(7090-7092)GAG>CAG	p.E2364Q	PTPN13_uc003hpy.2_Missense_Mutation_p.E2369Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2345Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2173Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2364	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGACCAGAGAGGTGCGCCA	0.323		NaN											0	0	0	0.003163	0	11	70				
DSPP	1834	broad.mit.edu	37	4	88534227	88534227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:88534227C>G	uc003hqu.2	+	4	1009	c.889C>G	c.(889-891)CAA>GAA	p.Q297E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	297					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGCATAGGTCAAAATTCAGA	0.428		NaN											0	0	0	0.00308	0	6	30				
HERC6	55008	broad.mit.edu	37	4	89334244	89334244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:89334244G>A	uc011cdi.1	+	12	1567	c.1384G>A	c.(1384-1386)GAG>AAG	p.E462K	HERC6_uc011cdj.1_Missense_Mutation_p.E462K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	462					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACGTGTCTCGAGGATGATCT	0.433		NaN											0	0	0	0.00623	0	26	150				
SMARCAD1	56916	broad.mit.edu	37	4	95201922	95201922	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:95201922G>A	uc003htc.3	+	20	2853	c.2598G>A	c.(2596-2598)TTG>TTA	p.L866L	SMARCAD1_uc003htb.3_Silent_p.L868L|SMARCAD1_uc003htd.3_Silent_p.L868L|SMARCAD1_uc010ila.2_Silent_p.L731L|SMARCAD1_uc011cdw.1_Silent_p.L436L	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	866	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTCTGAATTGAAACAGAAGG	0.323		NaN											0	0	0	0.001368	0	10	67				
ADH1A	124	broad.mit.edu	37	4	100200605	100200605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100200605C>G	uc003hur.1	-	8	1152	c.1081G>C	c.(1081-1083)GAC>CAC	p.D361H	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.D361H	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	361					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGAAGCAGGTCAAATCCTTCA	0.338		NaN											0	0	0	0.001168	0	6	11				
MTTP	4547	broad.mit.edu	37	4	100512501	100512501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100512501C>T	uc003hvc.3	+	6	867	c.611C>T	c.(610-612)CCA>CTA	p.P204L	MTTP_uc011cej.1_Missense_Mutation_p.P231L	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	204	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTTACGACCCCAAATCAGGTA	0.328		NaN											0	0	0	0.009096	0	3	22				
BANK1	55024	broad.mit.edu	37	4	102981531	102981531	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:102981531G>C	uc003hvy.3	+	12	2407	c.2133G>C	c.(2131-2133)CTG>CTC	p.L711L	BANK1_uc003hvx.3_Silent_p.L696L|BANK1_uc010ill.2_Silent_p.L578L|BANK1_uc003hvz.3_Silent_p.L681L	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	711					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGTGGCCTGGAAATGATTC	0.413		NaN											0	0	0	0.00308	0	6	39				
RRH	10692	broad.mit.edu	37	4	110757312	110757312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:110757312G>A	uc003hzv.2	+	4	581	c.547G>A	c.(547-549)GAT>AAT	p.D183N		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	183	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GAGGAAAAATGATAGGTAAGA	0.398		NaN											0	0	0	0.001168	0	5	42				
ENPEP	2028	broad.mit.edu	37	4	111430911	111430911	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:111430911C>G	uc003iab.3	+	5	1484	c.1142C>G	c.(1141-1143)TCA>TGA	p.S381*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	381	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAATCAGCCTCATCAAACCAA	0.453		NaN											0	0	0	0.006214	0	7	70				
SYNPO2	171024	broad.mit.edu	37	4	119947939	119947939	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:119947939G>A	uc003icm.3	+	3	611	c.415G>A	c.(415-417)GAA>AAA	p.E139K	SYNPO2_uc010ina.2_Missense_Mutation_p.E139K|SYNPO2_uc010inb.2_Missense_Mutation_p.E139K|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E67K	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	139						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TGTCAAGACTGAAGTTCCCCT	0.542		NaN											0	0	0	0.006214	0	7	41				
MAD2L1	4085	broad.mit.edu	37	4	120987847	120987847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:120987847C>T	uc003idl.2	-	1	167	c.43G>A	c.(43-45)GGG>AGG	p.G15R	MAD2L1_uc003idm.2_Missense_Mutation_p.G15R	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	15	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0						TCGGCGCTCCCGCGCAGGGTG	0.637		NaN											0	0	0	0.008291	0	8	63				
PLK4	10733	broad.mit.edu	37	4	128811324	128811324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:128811324G>C	uc003ifo.2	+	7	2008	c.1763G>C	c.(1762-1764)AGA>ACA	p.R588T	PLK4_uc011cgs.1_Missense_Mutation_p.R556T|PLK4_uc011cgt.1_Missense_Mutation_p.R547T	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	588					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CGTACATTAAGAAGCATTACA	0.393		NaN											0	0	0	0.006214	0	8	40				
MAML3	55534	broad.mit.edu	37	4	140646942	140646942	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:140646942C>G	uc003ihz.1	-	6	3116	c.2364G>C	c.(2362-2364)CGG>CGC	p.R788R	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.R256R	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	789	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GGTATGGATTCCGCTGTGGCT	0.512		NaN											0	0	0	0.008871	0	15	115				
PET112L	5188	broad.mit.edu	37	4	152682052	152682052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:152682052C>T	uc003iml.2	-	1	95	c.83G>A	c.(82-84)AGA>AAA	p.R28K	PET112L_uc003imm.3_Missense_Mutation_p.R28K	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	28						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGGAGCCCCTCTTCGGTGGCA	0.622		NaN											0	0	0	0.006214	0	8	69				
KIAA0922	23240	broad.mit.edu	37	4	154517430	154517430	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:154517430C>T	uc003inm.3	+	20	2065	c.2013C>T	c.(2011-2013)TCC>TCT	p.S671S	KIAA0922_uc010ipp.2_Silent_p.S672S|KIAA0922_uc010ipq.2_Silent_p.S440S	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	671	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CTGAGGAATCCAGGTTTGGCA	0.413		NaN											0	0	0	0.00245	0	12	89				
PALLD	23022	broad.mit.edu	37	4	169602528	169602528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:169602528C>G	uc011cjx.1	+	4	1344	c.1133C>G	c.(1132-1134)TCA>TGA	p.S378*	PALLD_uc003iru.2_Nonsense_Mutation_p.S378*|PALLD_uc003irv.2_Translation_Start_Site	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	378					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTTTCAAATCAAGAGCTGGA	0.373		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.008291	0	8	54				
GALNTL6	442117	broad.mit.edu	37	4	173269825	173269825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:173269825G>A	uc003isv.2	+	5	1274	c.538G>A	c.(538-540)GAC>AAC	p.D180N		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	180	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TCTAGTAGATGACTTCAGTGA	0.383		NaN											0	0	0	0.001984	0	5	46				
MORF4	10934	broad.mit.edu	37	4	174537452	174537452	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:174537452A>G	uc011cke.1	-	1	343	c.343T>C	c.(343-345)TCT>CCT	p.S115P		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTCCATGAGATTTCTTGTAA	0.398		NaN											0	0	0	0.001855	0	13	104				
SNX25	83891	broad.mit.edu	37	4	186274687	186274687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186274687G>A	uc003ixh.2	+	15	2212	c.2023G>A	c.(2023-2025)GAT>AAT	p.D675N	SNX25_uc010ish.2_Missense_Mutation_p.D391N|SNX25_uc003ixi.2_Missense_Mutation_p.D179N	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	675					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGATGATGTGGATGGGAGGAA	0.418		NaN											0	0	0	0.010729	0	10	72				
LRP2BP	55805	broad.mit.edu	37	4	186295477	186295477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186295477C>T	uc003ixj.1	-	4	1281	c.469G>A	c.(469-471)GAA>AAA	p.E157K	LRP2BP_uc003ixk.1_Missense_Mutation_p.E131K|LRP2BP_uc011ckr.1_Missense_Mutation_p.E157K	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	157	Sel1-like 2.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GATTACCTTTCAGCTTCCTCA	0.413		NaN											0	0	0	0.001984	0	5	72				
PLEKHG4B	153478	broad.mit.edu	37	5	155046	155046	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:155046G>A	uc003jak.2	+	6	1031	c.981G>A	c.(979-981)CTG>CTA	p.L327L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	327					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCCAGCTGACCGCAGACC	0.572		NaN											0	0	0	0.005443	0	24	92				
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:5239963C>T	uc003jdl.2	+	16	2586	c.2448C>T	c.(2446-2448)TTC>TTT	p.F816F	ADAMTS16_uc003jdk.1_Silent_p.F816F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCACTACTTTCGACTACAGAC	0.517		NaN											0	0	0	0.00278	0	19	131				
NSUN2	54888	broad.mit.edu	37	5	6605470	6605470	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:6605470C>T	uc003jdu.2	-	15	1718	c.1653G>A	c.(1651-1653)CGG>CGA	p.R551R	NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Silent_p.R315R|NSUN2_uc011cmk.1_Silent_p.R516R|NSUN2_uc003jdv.2_Silent_p.R315R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	551						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTTCTGTAGTCCGAGTTAACA	0.413		NaN											0	0	0	0.001368	0	13	126				
FAM105A	54491	broad.mit.edu	37	5	14601215	14601215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:14601215C>T	uc003jfj.2	+	2	319	c.206C>T	c.(205-207)TCA>TTA	p.S69L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	69										ovary(1)	1	Lung NSC(4;0.00592)					CATTTATATTCAGGGCACAAG	0.398		NaN											0	0	0	0.004656	0	22	208				
RNASEN	29102	broad.mit.edu	37	5	31515224	31515224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:31515224G>C	uc003jhg.2	-	7	1520	c.1161C>G	c.(1159-1161)ATC>ATG	p.I387M	RNASEN_uc003jhh.2_Missense_Mutation_p.I350M|RNASEN_uc003jhi.2_Missense_Mutation_p.I350M|RNASEN_uc010iui.1_Missense_Mutation_p.I310M	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	387					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						CTTTTTCCTTGATTGAGGTAT	0.468		NaN											0	0	0	0.001984	0	7	65				
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:32229910C>G	uc003jhq.2	-	16	2388	c.2218G>C	c.(2218-2220)GAG>CAG	p.E740Q	MTMR12_uc010iuk.2_Missense_Mutation_p.E686Q|MTMR12_uc010iul.2_Missense_Mutation_p.E630Q	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm	phosphatase activity			ovary(1)	1						TCCACGAACTCATCTTCTCGT	0.507		NaN											0	0	0	0.003163	0	14	104				
RXFP3	51289	broad.mit.edu	37	5	33937059	33937059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:33937059G>C	uc003jic.1	+	1	571	c.214G>C	c.(214-216)GAG>CAG	p.E72Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	72	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CGGCGGGGCAGAGAGCGCGGA	0.692		NaN											0	0	0	0.001368	0	10	142				
UGT3A2	167127	broad.mit.edu	37	5	36035959	36035959	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36035959G>A	uc003jjz.1	-	7	1506	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	UGT3A2_uc011cos.1_Silent_p.L437L|UGT3A2_uc011cot.1_Silent_p.L169L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	471	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGGGCTTGAGGTGCGTCG	0.617		NaN											0	0	0	0.00499	0	13	54				
SLC1A3	6507	broad.mit.edu	37	5	36677231	36677231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36677231G>C	uc003jkj.3	+	6	1281	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	SLC1A3_uc011cox.1_Missense_Mutation_p.E162Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.E269Q	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	269					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGCCCTGAGAGAGTTCTTTGA	0.413		NaN											0	0	0	0.000602	0	4	57				
C5orf42	65250	broad.mit.edu	37	5	37174003	37174003	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:37174003G>A	uc011cpa.1	-	32	6256	c.6025C>T	c.(6025-6027)CTG>TTG	p.L2009L	C5orf42_uc011coy.1_Silent_p.L509L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.L1084L|C5orf42_uc003jkr.1_Silent_p.L42L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2009										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTGATATCAGAAGTGGAACT	0.373		NaN											0	0	0	0.000602	0	3	55				
SNX18	112574	broad.mit.edu	37	5	53813855	53813855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:53813855G>A	uc003jpj.3	+	1	263	c.73G>A	c.(73-75)GAG>AAG	p.E25K	SNX18_uc011cqg.1_Missense_Mutation_p.E25K|SNX18_uc003jpi.3_Missense_Mutation_p.E25K	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	25	SH3.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCGAGAGCACGAGGTGCTGAG	0.706		NaN											0	0	0	0.004672	0	3	14				
ANKRD55	79722	broad.mit.edu	37	5	55407501	55407501	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:55407501C>T	uc003jqu.2	-	10	1226	c.1074G>A	c.(1072-1074)CAG>CAA	p.Q358Q	ANKRD55_uc003jqt.2_Silent_p.Q70Q	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	357										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GATGGGCTCTCTGCTCTTCTT	0.522		NaN											0	0	0	0.00245	0	13	130				
MAP3K1	4214	broad.mit.edu	37	5	56178366	56178366	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:56178366C>T	uc003jqw.3	+	14	3840	c.3339C>T	c.(3337-3339)TTC>TTT	p.F1113F		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1113					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACAGTGTTCACCCCAGTAG	0.433		NaN											0	0	0	0.004482	0	6	48				
ELOVL7	79993	broad.mit.edu	37	5	60050591	60050591	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:60050591G>T	uc003jsi.3	-	9	906	c.706C>A	c.(706-708)CCA>ACA	p.P236T	ELOVL7_uc011cqo.1_Missense_Mutation_p.P149T|ELOVL7_uc010iwk.2_Missense_Mutation_p.P236T|ELOVL7_uc003jsj.3_Missense_Mutation_p.P223T	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	236					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCAAAGACTGGAAACTGATAC	0.393		NaN											1	0	0.00116845	0.001168	0.00119519	5	23				
HTR1A	3350	broad.mit.edu	37	5	63257087	63257087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:63257087C>T	uc011cqt.1	-	1	460	c.460G>A	c.(460-462)GCT>ACT	p.A154T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	154	Helical; Name=4; (By similarity).			RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGAGCGCAGCGGCGCGCCGG	0.647		NaN											0	0	0	0.004007	0	17	60				
BDP1	55814	broad.mit.edu	37	5	70860685	70860685	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:70860685C>G	uc003kbp.1	+	39	8111	c.7848C>G	c.(7846-7848)ATC>ATG	p.I2616M	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2616					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAATGATATCTTCATTGAAG	0.368		NaN											0	0	0	0.00308	0	8	73				
MAP1B	4131	broad.mit.edu	37	5	71492567	71492567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:71492567G>A	uc003kbw.3	+	5	3626	c.3385G>A	c.(3385-3387)GAG>AAG	p.E1129K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1146K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1003K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1003K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1129						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATATCCAGTGAGCCCACCCC	0.512		NaN											0	0	0	0.004482	0	6	42				
S100Z	170591	broad.mit.edu	37	5	76171199	76171199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:76171199C>T	uc003kep.1	+	3	345	c.15C>T	c.(13-15)CTC>CTT	p.L5L	S100Z_uc003keq.3_Silent_p.L5L	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	5							calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CCACCCAGCTCGAGATGGCCA	0.522		NaN											0	0	0	0.001168	0	5	27				
SPZ1	84654	broad.mit.edu	37	5	79616517	79616517	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:79616517C>G	uc003kgn.2	+	1	728	c.483C>G	c.(481-483)ATC>ATG	p.I161M	uc011ctk.1_Intron	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAAATATCAGAGGACTTG	0.373		NaN											0	0	0	0.001168	0	4	35				
APC	324	broad.mit.edu	37	5	112174757	112174757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:112174757G>T	uc010jby.2	+	16	3846	c.3466G>T	c.(3466-3468)GAA>TAA	p.E1156*	APC_uc011cvt.1_Nonsense_Mutation_p.E1138*|APC_uc003kpz.3_Nonsense_Mutation_p.E1156*|APC_uc003kpy.3_Nonsense_Mutation_p.E1156*|APC_uc010jbz.2_Nonsense_Mutation_p.E873*|APC_uc010jca.2_Nonsense_Mutation_p.E456*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1156	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.|Asp/Glu-rich (acidic).				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1156fs*8(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCATGAAGAAGAAGAGAGACC	0.338		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			1	0	3.59834e-05	0.001168	3.71589e-05	6	20		Valid		
ZNF608	57507	broad.mit.edu	37	5	124036729	124036729	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:124036729G>A	uc003ktq.1	-	2	1263	c.1140C>T	c.(1138-1140)ATC>ATT	p.I380I	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.I380I|ZNF608_uc003ktt.1_Silent_p.I380I	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	380						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATGCCACACGATCCCTTCCA	0.443		NaN											0	0	0	0.009096	0	3	71				
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747454	133747454	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:133747454G>C	uc011cxs.1	-	1	136	c.92C>G	c.(91-93)TCA>TGA	p.S31*	CDKN2AIPNL_uc003kzi.1_Nonsense_Mutation_p.S31*	NM_080656	NP_542387	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	31											0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGCTCTCTGAGTAGGAGCG	0.697		NaN									OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	6	33				
SEC24A	10802	broad.mit.edu	37	5	134022530	134022530	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134022530C>G	uc003kzs.2	+	10	1830	c.1542C>G	c.(1540-1542)CAC>CAG	p.H514Q	SEC24A_uc011cxu.1_Missense_Mutation_p.H278Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	514					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCACAATGCAGTCG	0.333		NaN											0	0	0	0.001168	0	4	73				
SEC24A	10802	broad.mit.edu	37	5	134032871	134032871	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134032871C>G	uc003kzs.2	+	14	2330	c.2042C>G	c.(2041-2043)TCT>TGT	p.S681C	SEC24A_uc011cxu.1_Missense_Mutation_p.S445C	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	681					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGACTGTTCTGGTCAGCAA	0.328		NaN											0	0	0	0.003163	0	12	89				
MATR3	9782	broad.mit.edu	37	5	138643642	138643642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:138643642G>A	uc003ldu.2	+	5	965	c.538G>A	c.(538-540)GAA>AAA	p.E180K	MATR3_uc003lds.2_Missense_Mutation_p.E180K|MATR3_uc010jfb.2_Missense_Mutation_p.E180K|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.E180K|MATR3_uc003ldx.2_Missense_Mutation_p.E180K|MATR3_uc010jfc.2_Missense_Mutation_p.E180K|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.E180K|MATR3_uc003lea.2_Missense_Mutation_p.E180K	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	180						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATTGGGAAGAAAAAAGGCA	0.453		NaN											0	0	0	0.00308	0	6	30				
PCDHB1	29930	broad.mit.edu	37	5	140432123	140432123	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140432123C>A	uc003lik.1	+	1	1145	c.1068C>A	c.(1066-1068)CTC>CTA	p.L356L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	356	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGCCCACTCCCTGAAGACT	0.537		NaN											1	0	4.3838e-07	0.001855	4.58548e-07	11	80				
PCDHB13	56123	broad.mit.edu	37	5	140594403	140594403	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140594403C>T	uc003lja.1	+	1	895	c.708C>T	c.(706-708)GTC>GTT	p.V236V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	236	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGATGTCAACGATAATG	0.532		NaN											0	0	0	0.004656	0	20	189				
PCDHGA4	56111	broad.mit.edu	37	5	140736611	140736611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140736611G>A	uc003ljq.1	+	1	1844	c.1844G>A	c.(1843-1845)GGA>GAA	p.G615E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G615E	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	615	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCGGGACTATTTGCA	0.617		NaN											0	0	0	0.00499	0	14	68				
PCDHGB3	56102	broad.mit.edu	37	5	140750571	140750571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140750571G>A	uc003ljw.1	+	1	610	c.610G>A	c.(610-612)GAG>AAG	p.E204K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.E204K	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	204	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGGGAAGAGCAGCCACA	0.552		NaN											0	0	0	0.006214	0	10	48				
PCDHGA6	56109	broad.mit.edu	37	5	140753992	140753992	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140753992G>A	uc003ljy.1	+	1	342	c.342G>A	c.(340-342)CTG>CTA	p.L114L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.L114L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	114	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAAACTGAATCTTTATC	0.483		NaN											0	0	0	0.008871	0	16	70				
PCDHGB5	56101	broad.mit.edu	37	5	140779098	140779098	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140779098G>A	uc003lkf.1	+	1	1404	c.1404G>A	c.(1402-1404)GCG>GCA	p.A468A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A468A	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	468	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCATCGCGCAAGTCTGCG	0.567		NaN											0	0	0	0.000602	0	4	37				
PCDH12	51294	broad.mit.edu	37	5	141325351	141325351	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141325351C>T	uc003llx.2	-	4	4361	c.3150G>A	c.(3148-3150)CTG>CTA	p.L1050L		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1050	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGCGCTCAGCCGGTCCA	0.677		NaN											0	0	0	0.007413	0	16	116				
FGF1	2246	broad.mit.edu	37	5	141974881	141974881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141974881G>A	uc003lmm.2	-	4	522	c.442C>T	c.(442-444)CTC>TTC	p.L148F	FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.L148F|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.L148F|FGF1_uc010jgj.2_Missense_Mutation_p.L147F|FGF1_uc003lmr.2_Missense_Mutation_p.L148F|FGF1_uc003lms.3_Missense_Mutation_p.L148F	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	148					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GGCAGGGGGAGAAACAAGATT	0.493		NaN											0	0	0	0.008291	0	7	37				
SH3TC2	79628	broad.mit.edu	37	5	148411215	148411215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:148411215C>T	uc003lpu.2	-	9	1189	c.1037G>A	c.(1036-1038)AGA>AAA	p.R346K	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.R339K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.R231K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	346							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGAGCATCTCTCCTCATC	0.522		NaN											0	0	0	0.001368	0	10	52				
TCOF1	6949	broad.mit.edu	37	5	149754546	149754546	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:149754546C>T	uc003lry.2	+	10	1416	c.1308C>T	c.(1306-1308)GTC>GTT	p.V436V	TCOF1_uc003lrw.2_Silent_p.V436V|TCOF1_uc011dch.1_Silent_p.V436V|TCOF1_uc003lrz.2_Silent_p.V436V|TCOF1_uc003lrx.2_Silent_p.V359V|TCOF1_uc003lsa.2_Silent_p.V359V|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	436					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCCAGGTCAGAGCCGCCT	0.662		NaN											0	0	0	0.001168	0	5	31				
DCTN4	51164	broad.mit.edu	37	5	150110697	150110697	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150110697C>T	uc003lsv.2	-	7	735	c.633G>A	c.(631-633)CAG>CAA	p.Q211Q	DCTN4_uc003lsu.2_Silent_p.Q154Q|DCTN4_uc010jhi.2_Silent_p.Q218Q|DCTN4_uc010jhj.2_RNA	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	211						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATCTCTTTCTGATCCTCTC	0.343		NaN											0	0	0	0.004482	0	8	33				
FAT2	2196	broad.mit.edu	37	5	150947809	150947809	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150947809C>T	uc003lue.3	-	1	697	c.684G>A	c.(682-684)CGG>CGA	p.R228R	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.R228R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	228	Cadherin 2.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGATTTTCCGCATGCGGT	0.597		NaN											0	0	0	0.004482	0	8	34				
GEMIN5	25929	broad.mit.edu	37	5	154308188	154308188	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:154308188C>T	uc003lvx.3	-	6	896	c.813G>A	c.(811-813)AAG>AAA	p.K271K	GEMIN5_uc011ddk.1_Silent_p.K270K	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	271					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCTCTTCTCTTCAGAAAGG	0.473		NaN											0	0	0	0.001855	0	11	63				
GABRP	2568	broad.mit.edu	37	5	170222427	170222427	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:170222427C>G	uc003mau.2	+	5	654	c.456C>G	c.(454-456)CTC>CTG	p.L152L	GABRP_uc011dev.1_Silent_p.L152L	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	152	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTATGCCCTCAGGTACGCGG	0.532		NaN											0	0	0	0.004482	0	9	79				
BOD1	91272	broad.mit.edu	37	5	173040145	173040145	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:173040145C>T	uc003mcq.2	-	2	578	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q	BOD1_uc003mcr.2_Silent_p.Q117Q	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	117					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				ovary(2)	2						GAACCACACTCTGCCTCAGAC	0.423		NaN											0	0	0	0.003954	0	22	166				
RAB24	53917	broad.mit.edu	37	5	176730193	176730193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:176730193G>C	uc003mfv.2	-	2	466	c.97C>G	c.(97-99)CTG>GTG	p.L33V	RAB24_uc003mfu.2_5'UTR|RAB24_uc003mfw.2_Missense_Mutation_p.L33V|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	RAB24 gene product	33					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCCACCAGAAAGCGGTCG	0.647		NaN											0	0	0	0.009535	0	25	156				
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:1313343C>T	uc003mtl.3	+	1	669	c.404C>T	c.(403-405)TCG>TTG	p.S135L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.592		NaN											0	0	0	0.006214	0	7	71		Valid		
SLC22A23	63027	broad.mit.edu	37	6	3285315	3285315	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:3285315G>C	uc003mvm.3	-	8	1577	c.1577C>G	c.(1576-1578)TCA>TGA	p.S526*	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.S526*	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	526					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GGACTCACCTGAGTCTGGGTG	0.527		NaN											0	0	0	0.009096	0	3	32				
SYCP2L	221711	broad.mit.edu	37	6	10911094	10911094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:10911094G>A	uc003mzo.2	+	12	1206	c.910G>A	c.(910-912)GAG>AAG	p.E304K	SYCP2L_uc011din.1_Missense_Mutation_p.E145K|SYCP2L_uc010jow.2_Intron	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	304						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTTGCTGATGAGCATGAGGT	0.403		NaN											0	0	0	0.00632	0	20	303				
NEDD9	4739	broad.mit.edu	37	6	11190713	11190713	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:11190713G>C	uc003mzv.2	-	5	1556	c.1389C>G	c.(1387-1389)CTC>CTG	p.L463L	NEDD9_uc010joz.2_Silent_p.L463L|NEDD9_uc003mzw.3_Silent_p.L317L	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	463					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGACAAAGTGGAGGTACTCCT	0.522		NaN											0	0	0	0.001984	0	5	67				
JARID2	3720	broad.mit.edu	37	6	15512483	15512483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:15512483G>C	uc003nbj.2	+	14	3241	c.2997G>C	c.(2995-2997)AGG>AGC	p.R999S	JARID2_uc011div.1_Missense_Mutation_p.R827S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	999	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGTGCACAGGACCGTGCAGC	0.607		NaN											0	0	0	0.001368	0	12	87				
FAM8A1	51439	broad.mit.edu	37	6	17600696	17600696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17600696G>A	uc003ncc.2	+	1	179	c.56G>A	c.(55-57)GGA>GAA	p.G19E		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	19						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GACGATGGCGGAGGGGACCAC	0.736		NaN											0	0	0	0.008291	0	10	14				
NUP153	9972	broad.mit.edu	37	6	17675981	17675981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17675981C>T	uc003ncd.1	-	3	555	c.355G>A	c.(355-357)GCT>ACT	p.A119T	NUP153_uc011dje.1_Missense_Mutation_p.A119T|NUP153_uc010jpl.1_Missense_Mutation_p.A119T	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	119					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TAATTTGAAGCAGTACTAGTT	0.358		NaN											0	0	0	0.000602	0	5	69				
FAM65B	9750	broad.mit.edu	37	6	24865637	24865637	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24865637G>C	uc003neo.1	-	7	632	c.456C>G	c.(454-456)CTC>CTG	p.L152L	FAM65B_uc011djs.1_Silent_p.L181L|FAM65B_uc011dju.1_Silent_p.L186L|FAM65B_uc003nep.2_Silent_p.L152L|FAM65B_uc011djt.1_Silent_p.L152L	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	152					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						CACCATCCTGGAGGCGTCGCT	0.468		NaN											0	0	0	0.000602	0	5	55				
FAM65B	9750	broad.mit.edu	37	6	24873898	24873898	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24873898G>C	uc003neo.1	-	3	407	c.231C>G	c.(229-231)GTC>GTG	p.V77V	FAM65B_uc011djs.1_Silent_p.V106V|FAM65B_uc011dju.1_Silent_p.V111V|FAM65B_uc003nep.2_Silent_p.V77V|FAM65B_uc011djt.1_Silent_p.V77V	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	77	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						AGGCCCTGTAGACTTCTTCCA	0.438		NaN											0	0	0	0.001368	0	9	68				
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25466165G>A	uc011djw.1	+	9	1055	c.679G>A	c.(679-681)GAT>AAT	p.D227N	LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GTCCTCTAAGGATCTAAAACT	0.363		NaN											0	0	0	0.008871	0	19	171				
TRIM38	10475	broad.mit.edu	37	6	25967132	25967132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25967132C>T	uc003nfm.2	+	3	817	c.382C>T	c.(382-384)CTT>TTT	p.L128F	TRIM38_uc003nfn.2_Missense_Mutation_p.L128F	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	128	B box-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						CACCACAGCTCTTGTTGAAGA	0.572		NaN											0	0	0	0.010504	0	17	132				
HIST1H1C	3006	broad.mit.edu	37	6	26056380	26056380	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26056380G>A	uc003nfw.2	-	1	320	c.277C>T	c.(277-279)CTG>TTG	p.L93L		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	93	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						GTTTGCACCAGAGTGCCCTTG	0.547		NaN											0	0	0	0.010729	0	11	105				
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199108C>T	uc003ngw.2	-	1	364	c.364G>A	c.(364-366)GAG>AAG	p.E122K	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488		NaN											0	0	0	0.00245	0	11	100				
HIST1H2AD	3013	broad.mit.edu	37	6	26199439	26199439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199439G>A	uc003ngw.2	-	1	33	c.33C>T	c.(31-33)GCC>GCT	p.A11A	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	11					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CCTTAGCTCGGGCCTTTCCGC	0.527		NaN											0	0	0	0.009096	0	4	38				
BTN3A1	11119	broad.mit.edu	37	6	26407997	26407997	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26407997C>A	uc003nhv.2	+	4	900	c.532C>A	c.(532-534)CAG>AAG	p.Q178K	BTN3A1_uc011dkj.1_Missense_Mutation_p.Q178K|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Missense_Mutation_p.Q178K	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	178	Ig-like V-type 2.|Extracellular (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACCCCAAATACAGTGGAGCAA	0.537		NaN											1	0	8.58068e-18	0.007291	9.24403e-18	25	119				
BTN3A1	11119	broad.mit.edu	37	6	26411782	26411782	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26411782G>A	uc003nhv.2	+	9	1360	c.992_splice	c.e9-1	p.E331_splice	BTN3A1_uc011dkj.1_Splice_Site_p.E331_splice|BTN3A1_uc011dkk.1_Splice_Site_p.E279_splice|BTN3A1_uc010jqj.2_Splice_Site_p.E331_splice	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CTTCCTTTCAGAATGGAAAAA	0.438		NaN											0	0	0	0.004007	0	13	61				
HIST1H2AM	8336	broad.mit.edu	37	6	27860615	27860615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:27860615G>A	uc003nkb.1	-	1	349	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	105					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						ACACCGCCCTGAGCGATGGTA	0.542		NaN											0	0	0	0.004878	0	35	209				
ZNF165	7718	broad.mit.edu	37	6	28056346	28056346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056346G>C	uc003nkg.2	+	5	1640	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	ZNF165_uc003nkh.2_Missense_Mutation_p.E186Q|ZNF165_uc003nki.3_Missense_Mutation_p.E186Q|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	186					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTAGATAATGAGAGTGAAAA	0.318		NaN											0	0	0	0.009096	0	3	30				
ZNF165	7718	broad.mit.edu	37	6	28056916	28056916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056916G>A	uc003nkg.2	+	5	2210	c.1126G>A	c.(1126-1128)GAA>AAA	p.E376K	ZNF165_uc003nkh.2_Missense_Mutation_p.E376K|ZNF165_uc003nki.3_Missense_Mutation_p.E376K|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	376	C2H2-type 3.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGAATGTAATGAATGTGGGAA	0.443		NaN											0	0	0	0.006214	0	6	70				
MAS1L	116511	broad.mit.edu	37	6	29454596	29454596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29454596G>A	uc011dlq.1	-	1	1084	c.1084C>T	c.(1084-1086)CAG>TAG	p.Q362*		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	362	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						TCCACATGCTGAGTAGAGTGT	0.517		NaN											0	0	0	0.012319	0	16	100				
OR2H2	7932	broad.mit.edu	37	6	29556417	29556417	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29556417G>A	uc003nmr.1	+	1	735	c.696G>A	c.(694-696)CGG>CGA	p.R232R	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	232	Cytoplasmic (Potential).			KGR -> TAW (in Ref. 1; AAB36567).	defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAAAAGGGCGGAGGAAAGCTT	0.527		NaN											0	0	0	0.001368	0	12	98				
RNF39	80352	broad.mit.edu	37	6	30043525	30043525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30043525C>G	uc003npe.2	-	1	104	c.42G>C	c.(40-42)AAG>AAC	p.K14N	RNF39_uc003npd.2_Missense_Mutation_p.K14N	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	14						cytoplasm	zinc ion binding				0						TTGCCTCTCTCTTCAACCAGA	0.577		NaN											0	0	0	0.001368	0	11	117				
TRIM15	89870	broad.mit.edu	37	6	30131831	30131831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30131831C>T	uc010jrx.2	+	1	849	c.370C>T	c.(370-372)CAG>TAG	p.Q124*		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	124					mesodermal cell fate determination	intracellular	zinc ion binding				0						CGAGGCCATTCAGCCCTACCG	0.577		NaN											0	0	0	0.010504	0	14	96				
GTF2H4	2968	broad.mit.edu	37	6	30881724	30881724	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30881724C>T	uc003nsa.1	+	14	1560	c.1353C>T	c.(1351-1353)GTC>GTT	p.V451V	GTF2H4_uc003nsb.1_Silent_p.V289V|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	451					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						ACAGCGACGTCAAGCGCTTTT	0.677		NaN						NER					0	0	0	0.004482	0	7	44				
CCHCR1	54535	broad.mit.edu	37	6	31110790	31110790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31110790G>A	uc003nsr.3	-	17	2297	c.2174C>T	c.(2173-2175)TCA>TTA	p.S725L	CCHCR1_uc011dne.1_Missense_Mutation_p.S711L|CCHCR1_uc003nsq.3_Missense_Mutation_p.S778L|CCHCR1_uc003nsp.3_Missense_Mutation_p.S814L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	725					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						TGCAGATGCTGAACACTCTGG	0.547		NaN											0	0	0	0.00623	0	32	353				
C6orf26	401251	broad.mit.edu	37	6	31731217	31731217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31731217G>A	uc003nxa.3	+	2	199	c.140G>A	c.(139-141)AGA>AAA	p.R47K	MSH5_uc003nwz.3_RNA	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	hypothetical protein LOC401251	47											0						GCTCTGGAGAGAGAACAGGAT	0.592		NaN											0	0	0	0.001368	0	10	88				
CYP21A2	1589	broad.mit.edu	37	6	32008204	32008204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32008204G>A	uc003nze.1	+	8	1079	c.961G>A	c.(961-963)GAG>AAG	p.E321K	CYP21A2_uc003nzf.1_Missense_Mutation_p.E291K	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	320			E -> K (in AH3; simple virilizing form; 4% activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						ACTGCAGGAGGAGCTAGACCA	0.662		NaN											0	0	0	0.004482	0	7	43				
TNXB	7148	broad.mit.edu	37	6	32053680	32053680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32053680C>T	uc003nzl.2	-	7	3197	c.2995G>A	c.(2995-2997)GAG>AAG	p.E999K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1086	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCCGGCCCCTCGGGCACCCGC	0.662		NaN											0	0	0	0.004878	0	26	185				
AGER	177	broad.mit.edu	37	6	32150064	32150064	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32150064G>A	uc003oal.1	-	8	948	c.924C>T	c.(922-924)CAC>CAT	p.H308H	AGER_uc003oak.1_Silent_p.H37H|AGER_uc003oar.2_Silent_p.H207H|AGER_uc011dpm.1_Silent_p.H207H|AGER_uc011dpn.1_Missense_Mutation_p.T190M|AGER_uc010jtv.1_Intron|AGER_uc011dpo.1_Intron|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Intron|AGER_uc003oap.1_Silent_p.H324H|AGER_uc003oat.1_Silent_p.H324H|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Silent_p.H294H|AGER_uc010jtw.1_Intron|AGER_uc003oas.1_Missense_Mutation_p.T291M|AGER_uc003oau.1_Silent_p.H308H|AGER_uc011dpp.1_Silent_p.H308H	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	308	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)	1						CCTGGGGCCCGTGGCTGGAAT	0.637		NaN											0	0	0	0.00361	0	65	98				
BRD2	6046	broad.mit.edu	37	6	32945290	32945290	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32945290C>G	uc003ocn.3	+	8	2973	c.1272C>G	c.(1270-1272)AAC>AAG	p.N424K	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.N424K|BRD2_uc003ocp.3_Missense_Mutation_p.N304K|BRD2_uc010juh.2_Missense_Mutation_p.N424K	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	424	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGTTCTCCAACTGCTATAAGT	0.488		NaN											0	0	0	0.005524	0	31	221				
RPS18	6222	broad.mit.edu	37	6	33244179	33244179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:33244179G>A	uc003odp.1	+	6	440	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	132					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						CTTCGTGTCCGAGGCCAGCAC	0.493		NaN											0	0	0	0.001984	0	5	33				
GRM4	2914	broad.mit.edu	37	6	34101145	34101145	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34101145G>A	uc003oir.3	-	1	299	c.129C>T	c.(127-129)ATC>ATT	p.I43I	GRM4_uc011dsn.1_Silent_p.I43I|GRM4_uc010jvh.2_Silent_p.I43I|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	43	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CATCTATGCGGATGGAATTCA	0.617		NaN											0	0	0	0.004482	0	5	86				
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34741334G>A	uc003ojt.1	+	6	482	c.467G>A	c.(466-468)CGA>CAA	p.R156Q		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						GGAATGACTCGACCAGACAGA	0.537		NaN											0	0	0	0.010729	0	9	115				
SCUBE3	222663	broad.mit.edu	37	6	35216389	35216389	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216389C>T	uc003okf.1	+	22	2895	c.2889C>T	c.(2887-2889)TTC>TTT	p.F963F	SCUBE3_uc003okg.1_Silent_p.F962F|SCUBE3_uc003okh.1_Silent_p.F850F	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	963					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AGAACTACTTCAAGTACACAG	0.522		NaN											0	0	0	0.007413	0	18	115				
SCUBE3	222663	broad.mit.edu	37	6	35216431	35216431	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216431C>A	uc003okf.1	+	22	2937	c.2931C>A	c.(2929-2931)TTC>TTA	p.F977L	SCUBE3_uc003okg.1_Missense_Mutation_p.F976L|SCUBE3_uc003okh.1_Missense_Mutation_p.F864L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	977					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CAAAATCCTTCATCAAGCTGC	0.493		NaN											1	0	1.5739e-10	0.004007	1.66784e-10	16	89				
C6orf81	221481	broad.mit.edu	37	6	35706280	35706280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35706280C>T	uc003ola.2	+	3	537	c.510C>T	c.(508-510)TTC>TTT	p.F170F	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.F143F	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	143							binding			ovary(1)	1						TCAGAAAATTCAGGCTCAAAA	0.458		NaN											0	0	0	0.001368	0	9	97				
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37328321G>A	uc003onq.3	+	2	404	c.211G>A	c.(211-213)GAG>AAG	p.E71K	RNF8_uc003onr.3_Missense_Mutation_p.E71K|RNF8_uc011dtx.1_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						GCAGAATCCTGAGGGCCAATG	0.373		NaN											0	0	0	0.006214	0	9	62				
FTSJD2	23070	broad.mit.edu	37	6	37426534	37426534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37426534C>T	uc003ons.2	+	9	1177	c.924C>T	c.(922-924)TTC>TTT	p.F308F	FTSJD2_uc010jwu.2_Silent_p.F252F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	308					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTAATGACTTCAAGCTGGAGG	0.522		NaN											0	0	0	0.008291	0	9	119				
TFEB	7942	broad.mit.edu	37	6	41655745	41655745	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:41655745G>T	uc003oqs.1	-	6	873	c.571C>A	c.(571-573)CTG>ATG	p.L191M	TFEB_uc003oqt.1_Missense_Mutation_p.L191M|TFEB_uc003oqu.1_Missense_Mutation_p.L205M|TFEB_uc003oqv.1_Missense_Mutation_p.L191M|TFEB_uc010jxo.1_Missense_Mutation_p.L191M|TFEB_uc003oqr.1_Missense_Mutation_p.L106M	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	191					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TACACATTCAGGTGGCTGCTG	0.657		NaN	T	ALPHA	renal (childhood epithelioid)								1	0	1.06801e-11	0.009535	1.13641e-11	30	153				
TAF8	129685	broad.mit.edu	37	6	42034150	42034150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42034150C>G	uc003ors.2	+	6	619	c.590C>G	c.(589-591)ACA>AGA	p.T197R	TAF8_uc003ort.2_Missense_Mutation_p.T197R|TAF8_uc003oru.1_Missense_Mutation_p.T197R|TAF8_uc003orv.1_Missense_Mutation_p.T197R|TAF8_uc011dun.1_Missense_Mutation_p.T134R	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	197					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATGGCCAAGACAGGCGAGACT	0.537		NaN											0	0	0	0.004007	0	15	80				
TRERF1	55809	broad.mit.edu	37	6	42236470	42236470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42236470C>G	uc003osd.2	-	5	1422	c.859G>C	c.(859-861)GAA>CAA	p.E287Q	TRERF1_uc011duq.1_Missense_Mutation_p.E287Q|TRERF1_uc003osb.2_Missense_Mutation_p.E126Q|TRERF1_uc003osc.2_Missense_Mutation_p.E126Q|TRERF1_uc003ose.2_Missense_Mutation_p.E287Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	287	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTGTATTTCTTGCATGGAG	0.453		NaN											0	0	0	0.007835	0	32	223				
YIPF3	25844	broad.mit.edu	37	6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:43481347G>C	uc003ovl.1	-	4	577	c.420C>G	c.(418-420)ATC>ATG	p.I140M	C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.I105M|YIPF3_uc010jyr.1_Missense_Mutation_p.I146M|YIPF3_uc010jys.1_Intron|YIPF3_uc003ovm.1_Missense_Mutation_p.I14M|YIPF3_uc010jyt.1_Intron	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	natural killer cell-specific antigen KLIP1	140					cell differentiation	integral to membrane|plasma membrane|transport vesicle					0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.458		NaN											0	0	0	0.009096	0	4	95				
NFKBIE	4794	broad.mit.edu	37	6	44227806	44227806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:44227806C>T	uc003oxe.1	-	5	1436	c.1411G>A	c.(1411-1413)GAG>AAG	p.E471K	SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank	NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	471					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGGCGTCTCATCCTCCACA	0.567		NaN											0	0	0	0.008871	0	16	103				
GPR116	221395	broad.mit.edu	37	6	46851331	46851331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:46851331G>A	uc003oyo.3	-	6	866	c.577C>T	c.(577-579)CTC>TTC	p.L193F	GPR116_uc003oyp.3_Missense_Mutation_p.L193F|GPR116_uc003oyq.3_Missense_Mutation_p.L193F|GPR116_uc003oyr.2_Missense_Mutation_p.L193F	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	193	SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GACCTATAGAGGGCGGAGGAA	0.428		NaN											0	0	0	0.00308	0	6	36				
TFAP2B	7021	broad.mit.edu	37	6	50805697	50805697	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:50805697G>A	uc003pag.2	+	5	997	c.831G>A	c.(829-831)TCG>TCA	p.S277S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	277					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GAGCCAAATCGAAAAATGGGG	0.433		NaN											0	0	0	0.00308	0	7	85				
DST	667	broad.mit.edu	37	6	56464987	56464987	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56464987C>G	uc003pdf.2	-	39	5245	c.5217G>C	c.(5215-5217)GAG>GAC	p.E1739D	DST_uc003pcz.3_Missense_Mutation_p.E1561D|DST_uc011dxj.1_Missense_Mutation_p.E1590D|DST_uc011dxk.1_Missense_Mutation_p.E1601D|DST_uc003pcy.3_Missense_Mutation_p.E1235D|DST_uc010kaa.1_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3647					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGGAGTTTCTCTTTATACT	0.403		NaN											0	0	0	0.00308	0	8	22				
DST	667	broad.mit.edu	37	6	56479189	56479189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56479189C>G	uc003pdf.2	-	36	4952	c.4924G>C	c.(4924-4926)GAG>CAG	p.E1642Q	DST_uc003pcz.3_Missense_Mutation_p.E1464Q|DST_uc011dxj.1_Missense_Mutation_p.E1493Q|DST_uc011dxk.1_Missense_Mutation_p.E1504Q|DST_uc003pcy.3_Missense_Mutation_p.E1138Q|DST_uc003pdb.2_Missense_Mutation_p.E1138Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3540					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGCCTTCTCTGCATCTTTC	0.373		NaN											0	0	0	0.009096	0	4	13				
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:73843259G>T	uc003pgk.2	+	10	1710	c.1363G>T	c.(1363-1365)GAG>TAG	p.E455*	KCNQ5_uc011dyh.1_Nonsense_Mutation_p.E474*|KCNQ5_uc011dyi.1_Nonsense_Mutation_p.E465*|KCNQ5_uc010kat.2_Nonsense_Mutation_p.E446*|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Nonsense_Mutation_p.E205*	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	455					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATCACAGCCGAGGGCAGTCC	0.592		NaN											1	0	0.00621372	0.006214	0.00633594	9	106				
DOPEY1	23033	broad.mit.edu	37	6	83841961	83841961	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:83841961G>C	uc003pjs.1	+	18	2943	c.2683G>C	c.(2683-2685)GAA>CAA	p.E895Q	DOPEY1_uc011dyy.1_Missense_Mutation_p.E886Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E886Q	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	895					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGAGTGTGGAACTATTTTA	0.368		NaN											0	0	0	0.008291	0	9	57				
SNX14	57231	broad.mit.edu	37	6	86256945	86256945	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:86256945C>G	uc003pkr.2	-	12	1187	c.994_splice	c.e12-1	p.V332_splice	SNX14_uc003pkp.2_Splice_Site_p.V195_splice|SNX14_uc003pkq.2_Splice_Site|SNX14_uc011dzg.1_Splice_Site_p.V280_splice|SNX14_uc003pks.2_Splice_Site_p.V288_splice|SNX14_uc003pkt.2_Splice_Site_p.V332_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTCAGCACCTTGATATAAG	0.318		NaN											0	0	0	0.004672	0	3	18				
ZNF292	23036	broad.mit.edu	37	6	87969858	87969858	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:87969858G>C	uc003plm.3	+	8	6552	c.6511G>C	c.(6511-6513)GAA>CAA	p.E2171Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTTTGAAAGAATTTCGATG	0.368		NaN											0	0	0	0.001168	0	5	38				
NR2E1	7101	broad.mit.edu	37	6	108496093	108496093	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:108496093G>A	uc003psg.2	+	3	980	c.225G>A	c.(223-225)CTG>CTA	p.L75L		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	75	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGTGTCGGCTGAAGAAGTGTT	0.483		NaN											0	0	0	0.00333	0	18	86				
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:112476811C>T	uc003pvu.2	-	15	2224	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	639	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388		NaN											0	0	0	0.002299	0	18	91				
HDAC2	3066	broad.mit.edu	37	6	114274470	114274470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:114274470C>T	uc003pwd.1	-	6	892	c.892G>A	c.(892-894)GAA>AAA	p.E298K	HDAC2_uc003pwc.1_Missense_Mutation_p.E174K|HDAC2_uc003pwe.1_Missense_Mutation_p.E174K	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	204	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGAAAGTATTCCCCATATTTA	0.348		NaN											0	0	0	0.008871	0	17	120				
RFX6	222546	broad.mit.edu	37	6	117245835	117245835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:117245835C>G	uc003pxm.2	+	15	1622	c.1559C>G	c.(1558-1560)TCT>TGT	p.S520C		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						AAACAAGGTTCTTTTCATTTG	0.393		NaN											0	0	0	0.001168	0	5	48				
PTPRK	5796	broad.mit.edu	37	6	128410865	128410865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128410865C>A	uc003qbk.2	-	8	1802	c.1435G>T	c.(1435-1437)GAA>TAA	p.E479*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.E479*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.E479*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.E479*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.E349*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.E479*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	479	Extracellular (Potential).|Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTGTCTCTTCACTCTCCTTC	0.408		NaN											1	0	0.000151284	0.001855	0.000155607	10	104				
PTPRK	5796	broad.mit.edu	37	6	128505838	128505838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128505838G>A	uc003qbk.2	-	7	1268	c.901C>T	c.(901-903)CTT>TTT	p.L301F	PTPRK_uc003qbj.2_Missense_Mutation_p.L301F|PTPRK_uc010kfc.2_Missense_Mutation_p.L301F|PTPRK_uc011ebu.1_Missense_Mutation_p.L301F|PTPRK_uc003qbl.1_Missense_Mutation_p.L171F|PTPRK_uc011ebv.1_Missense_Mutation_p.L301F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	301	Fibronectin type-III 1.|Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAACACCAAGAAGCTGAGGA	0.408		NaN											0	0	0	0.003163	0	11	23				
CTGF	1490	broad.mit.edu	37	6	132271489	132271489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132271489C>T	uc003qcz.2	-	3	690	c.484G>A	c.(484-486)GAG>AAG	p.E162K		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	162	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACCCACTCCTCGCAGCATTTC	0.652		NaN									OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005524	0	35	213				
TAAR8	83551	broad.mit.edu	37	6	132874133	132874133	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132874133C>T	uc011ecj.1	+	1	302	c.302C>T	c.(301-303)GCC>GTC	p.A101V		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	101	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGAGCCAAATTTTGT	0.468		NaN											0	0	0	0.004482	0	9	55				
CCDC28A	25901	broad.mit.edu	37	6	139101069	139101069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139101069G>C	uc003qie.2	+	3	694	c.539G>C	c.(538-540)AGA>ACA	p.R180T		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	180											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGATGGAGAGAGGGCTGCTC	0.443		NaN											0	0	0	0.006122	0	12	60				
ECT2L	345930	broad.mit.edu	37	6	139186275	139186275	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139186275C>T	uc003qif.1	+	10	1537	c.1434C>T	c.(1432-1434)TTC>TTT	p.F478F	ECT2L_uc011edq.1_Silent_p.F409F	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	478					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TGTATCCTTTCTTCAAGGAAC	0.443		NaN											0	0	0	0.000602	0	3	38				
TXLNB	167838	broad.mit.edu	37	6	139564283	139564283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139564283C>G	uc011eds.1	-	10	1600	c.1435G>C	c.(1435-1437)GAG>CAG	p.E479Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	479						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACGTTTGACTCTGGCTCTTCA	0.433		NaN											0	0	0	0.008871	0	14	78				
UTRN	7402	broad.mit.edu	37	6	144858794	144858794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:144858794G>A	uc003qkt.2	+	43	6402	c.6310G>A	c.(6310-6312)GAG>AAG	p.E2104K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2104					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACAAAGGCTGAGCATGCTAT	0.368		NaN											0	0	0	0.001168	0	4	42				
FBXO30	84085	broad.mit.edu	37	6	146127160	146127160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:146127160C>G	uc003qla.2	-	2	581	c.382G>C	c.(382-384)GAC>CAC	p.D128H	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	128							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATCCTTTGGTCTTGAAGAGCC	0.408		NaN											0	0	0	0.004482	0	8	33				
SYNE1	23345	broad.mit.edu	37	6	152651320	152651320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651320G>A	uc010kiw.2	-	78	15102	c.14500C>T	c.(14500-14502)CGA>TGA	p.R4834*	SYNE1_uc003qot.3_Nonsense_Mutation_p.R4763*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R4834*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.R589*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4834	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTTACTCGTTTCAGTACA	0.498		NaN								HNSCC(10;0.0054)			0	0	0	0.001368	0	9	39				
SYNE1	23345	broad.mit.edu	37	6	152651534	152651534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651534C>T	uc010kiw.2	-	78	14888	c.14286G>A	c.(14284-14286)CTG>CTA	p.L4762L	SYNE1_uc003qot.3_Silent_p.L4691L|SYNE1_uc003qou.3_Silent_p.L4762L|SYNE1_uc010kiz.2_Silent_p.L517L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4762	Spectrin 14.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGTCGCTTCAGCCTGTGAT	0.483		NaN								HNSCC(10;0.0054)			0	0	0	0.009096	0	4	61				
IGF2R	3482	broad.mit.edu	37	6	160477479	160477479	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160477479C>G	uc003qta.2	+	20	2866	c.2718C>G	c.(2716-2718)CTC>CTG	p.L906L		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	906	6.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTTTTCTCTCAACTGGGAGT	0.488		NaN											0	0	0	0.012319	0	19	137				
IGF2R	3482	broad.mit.edu	37	6	160479137	160479137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160479137G>C	uc003qta.2	+	21	3027	c.2879G>C	c.(2878-2880)GGC>GCC	p.G960A		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	960	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AACGTCTCTGGCATTGGGAAG	0.418		NaN											0	0	0	0.001368	0	10	68				
T	6862	broad.mit.edu	37	6	166580899	166580899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:166580899C>G	uc003quu.1	-	2	674	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	T_uc003qut.1_Missense_Mutation_p.E61Q|T_uc003quv.1_Missense_Mutation_p.E61Q	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	61	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACGATCATCTCATTGGTGAGC	0.701		NaN							Chordoma_Familial_Clustering_of				0	0	0	0.010729	0	8	77				
ZFAND2A	90637	broad.mit.edu	37	7	1197336	1197336	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1197336G>T	uc003skc.2	-	3	407	c.106C>A	c.(106-108)CAT>AAT	p.H36N	ZFAND2A_uc003skd.3_Missense_Mutation_p.H36N|uc003skf.1_5'Flank	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	36	AN1-type 1.					cytoplasm|nucleus	zinc ion binding			ovary(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATGGAAAATGATCTTTACAG	0.328		NaN											1	0	1.55811e-20	0.008361	1.68276e-20	25	276				
INTS1	26173	broad.mit.edu	37	7	1515921	1515921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1515921C>G	uc003skn.2	-	38	5423	c.5322G>C	c.(5320-5322)GAG>GAC	p.E1774D	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1774					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTGACACTCTCATCGTCCC	0.692		NaN											0	0	0	0.001984	0	5	23				
INTS1	26173	broad.mit.edu	37	7	1521036	1521036	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1521036G>A	uc003skn.2	-	28	3893	c.3792C>T	c.(3790-3792)TTC>TTT	p.F1264F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1264					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGTCCAGGAACTGGAGGA	0.612		NaN											0	0	0	0.00308	0	7	107				
ACTB	60	broad.mit.edu	37	7	5569265	5569265	+	Silent	SNP	G	G	T	rs151181948		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5569265G>T	uc003sos.3	-	1	60	c.24C>A	c.(22-24)CTC>CTA	p.L8L	ACTB_uc003sor.3_5'Flank|ACTB_uc003sot.3_Silent_p.L8L|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron|ACTB_uc011jwi.1_5'Flank	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	8					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCGACGACGAGCGCGGCGA	0.721		NaN											1	0	1.75199e-13	0.007291	1.87032e-13	20	125				
FSCN1	6624	broad.mit.edu	37	7	5633134	5633134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5633134G>C	uc003sou.2	+	1	681	c.567G>C	c.(565-567)CAG>CAC	p.Q189H		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	189					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACAGCGTGCAGACCGCCGACC	0.741		NaN											0	0	0	0.001984	0	5	59				
C7orf28A	51622	broad.mit.edu	37	7	5949692	5949692	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5949692G>C	uc003spf.2	+	8	815	c.725G>C	c.(724-726)AGA>ACA	p.R242T		NM_015622	NP_056437	P86791	CCZ1_HUMAN	hypothetical protein LOC51622	242						lysosomal membrane					0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)		GATGACATGAGAATTTTATAC	0.438		NaN											0	0	0	0.010729	0	8	32				
USP42	84132	broad.mit.edu	37	7	6189333	6189333	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6189333C>T	uc011jwo.1	+	13	1629	c.1506C>T	c.(1504-1506)GTC>GTT	p.V502V	USP42_uc010kth.1_Silent_p.V435V|USP42_uc011jwp.1_Silent_p.V502V|USP42_uc011jwq.1_Silent_p.V309V|USP42_uc011jwr.1_Silent_p.V347V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	502					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGCTTCTGTCCAAAACTGGT	0.453		NaN											0	0	0	0.008291	0	10	113				
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6624735C>A	uc003sqi.2	+	8	943	c.585C>A	c.(583-585)CTC>CTA	p.L195L	ZDHHC4_uc003sql.2_Silent_p.L195L|ZDHHC4_uc003sqh.2_Silent_p.L195L|ZDHHC4_uc003sqj.2_Silent_p.L195L|ZDHHC4_uc003sqk.2_Silent_p.L195L|ZDHHC4_uc003sqm.2_Silent_p.L195L	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195	DHHC-type.|Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527		NaN											1	0	2.44723e-14	0.004656	2.61684e-14	20	81				
ZNF12	7559	broad.mit.edu	37	7	6730899	6730899	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6730899G>A	uc003sqt.1	-	5	2228	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	ZNF12_uc011jxa.1_Silent_p.F396F|ZNF12_uc003sqs.1_Silent_p.F520F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	558	C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ACATCTGAGAGAAGAATTTTC	0.413		NaN											0	0	0	0.004672	0	3	28				
ZNF12	7559	broad.mit.edu	37	7	6732258	6732258	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6732258G>A	uc003sqt.1	-	5	869	c.315C>T	c.(313-315)TTC>TTT	p.F105F	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Silent_p.F105F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTCTCAATGAACACAGTTT	0.363		NaN											0	0	0	0.006122	0	16	125				
C7orf28B	221960	broad.mit.edu	37	7	6854450	6854450	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6854450C>G	uc003sqx.1	-	8	758	c.725G>C	c.(724-726)AGA>ACA	p.R242T	C7orf28B_uc011jxd.1_Missense_Mutation_p.R99T	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960	242						lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		GTATAAAATTCTCATGTCATC	0.438		NaN											0	0	0	0.002299	0	17	201				
ICA1	3382	broad.mit.edu	37	7	8198207	8198207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:8198207G>A	uc003srm.2	-	7	722	c.655C>T	c.(655-657)CTT>TTT	p.L219F	ICA1_uc010ktr.2_Missense_Mutation_p.L219F|ICA1_uc003srl.2_Missense_Mutation_p.L207F|ICA1_uc003srn.3_Missense_Mutation_p.L145F|ICA1_uc003srp.3_Missense_Mutation_p.L218F|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L219F|ICA1_uc003srr.2_Missense_Mutation_p.L218F|ICA1_uc003sro.3_Missense_Mutation_p.L219F|ICA1_uc011jxg.1_Missense_Mutation_p.L219F|ICA1_uc003srs.1_Missense_Mutation_p.L219F	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	219	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCGCTCCAAGAAGATCCACT	0.373		NaN											0	0	0	0.009096	0	4	58				
IL6	3569	broad.mit.edu	37	7	22771127	22771127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:22771127C>T	uc011jyn.1	+	6	1033	c.574C>T	c.(574-576)CAT>TAT	p.H192Y	IL6_uc003svj.3_Missense_Mutation_p.H192Y	NM_000600	NP_000591	P05231	IL6_HUMAN	interleukin 6 precursor	192					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding				0					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CATGACAACTCATCTCATTCT	0.512		NaN											0	0	0	0.000602	0	5	50				
TAX1BP1	8887	broad.mit.edu	37	7	27856100	27856100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:27856100C>G	uc003szl.2	+	14	2055	c.1897C>G	c.(1897-1899)CTG>GTG	p.L633V	TAX1BP1_uc011jzo.1_Intron|TAX1BP1_uc003szk.2_Intron|TAX1BP1_uc011jzp.1_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	633					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			ACAACCAGTTCTGCAATATGG	0.363		NaN											0	0	0	0.00333	0	20	91				
TRIL	9865	broad.mit.edu	37	7	28996953	28996953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:28996953G>A	uc003szt.2	-	3	1077	c.710C>T	c.(709-711)TCG>TTG	p.S237L	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	237	Extracellular (Potential).|LRR 8.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GTTGTTGGCCGAGAGGATGAG	0.677		NaN											0	0	0	0.006122	0	17	148				
NOD1	10392	broad.mit.edu	37	7	30492526	30492526	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:30492526G>A	uc003tav.2	-	6	1030	c.507C>T	c.(505-507)TTC>TTT	p.F169F	NOD1_uc010kvs.2_Silent_p.F169F	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	169					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TCTCATTGCTGAAGCCAACCA	0.587		NaN											0	0	0	0.002299	0	18	169				
BBS9	27241	broad.mit.edu	37	7	33392470	33392470	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:33392470G>C	uc003tdn.1	+	15	2051	c.1538_splice	c.e15-1	p.D513_splice	BBS9_uc003tdo.1_Splice_Site_p.N478_splice|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_Splice_Site_p.D37_splice|BBS9_uc003tds.1_Splice_Site|BBS9_uc011kao.1_Splice_Site_p.D391_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GTGATGGACAGATCGAAATCC	0.323		NaN							Bardet-Biedl_syndrome				0	0	0	0.001855	0	11	48				
HERPUD2	64224	broad.mit.edu	37	7	35674914	35674914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:35674914G>C	uc003tet.2	-	6	1577	c.772C>G	c.(772-774)CAA>GAA	p.Q258E	HERPUD2_uc003tes.3_Missense_Mutation_p.Q258E	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	258					response to unfolded protein	integral to membrane				ovary(3)	3						GCATTCATTTGAACATTCTCA	0.468		NaN											0	0	0	0.005443	0	24	170				
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44193018C>T	uc003tkl.2	-	2	560	c.90G>A	c.(88-90)CTG>CTA	p.L30L	GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TCACCTTCTTCAGGTCCTCCT	0.632		NaN											0	0	0	0.00361	0	54	480				
CAMK2B	816	broad.mit.edu	37	7	44259671	44259671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44259671G>A	uc003tkq.2	-	23	2201	c.1991C>T	c.(1990-1992)CCG>CTG	p.P664L	CAMK2B_uc003tkp.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkx.2_Missense_Mutation_p.P500L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.P516L|CAMK2B_uc003tks.2_Missense_Mutation_p.P515L|CAMK2B_uc003tku.2_Missense_Mutation_p.P501L|CAMK2B_uc003tkv.2_Missense_Mutation_p.P477L|CAMK2B_uc003tkt.2_Missense_Mutation_p.P490L|CAMK2B_uc003tkw.2_Missense_Mutation_p.P447L|CAMK2B_uc010kyc.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkn.2_Missense_Mutation_p.P297L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	664					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TCACTGCAGCGGGGCCACAGG	0.692		NaN											0	0	0	0.000602	0	4	19				
CAMK2B	816	broad.mit.edu	37	7	44281927	44281927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44281927C>T	uc003tkq.2	-	10	919	c.709G>A	c.(709-711)GAG>AAG	p.E237K	CAMK2B_uc003tkp.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkx.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.E237K|CAMK2B_uc003tks.2_Missense_Mutation_p.E237K|CAMK2B_uc003tku.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkv.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkt.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkw.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyc.2_Missense_Mutation_p.E237K	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	237	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						GTGTCCCACTCAGGGGACGGG	0.607		NaN											0	0	0	0.006122	0	16	127				
ABCA13	154664	broad.mit.edu	37	7	48311969	48311969	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48311969C>G	uc003toq.2	+	17	2731	c.2706C>G	c.(2704-2706)CTC>CTG	p.L902L	ABCA13_uc010kyr.2_Silent_p.L405L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	902					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAACTAGTCTCCATGAATTTG	0.393		NaN											0	0	0	0.008291	0	10	33				
ABCA13	154664	broad.mit.edu	37	7	48318381	48318381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48318381G>C	uc003toq.2	+	18	7615	c.7590G>C	c.(7588-7590)AAG>AAC	p.K2530N	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2530					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCTGGTCAAGAAAGTTTCGG	0.413		NaN											0	0	0	0.00361	0	41	113				
HIP1	3092	broad.mit.edu	37	7	75172284	75172284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172284C>T	uc003uds.1	-	28	2817	c.2776G>A	c.(2776-2778)GAT>AAT	p.D926N	HIP1_uc011kfz.1_Missense_Mutation_p.D752N	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	926	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CTGTCCTTATCAGCTTTCACC	0.507		NaN	T	PDGFRB	CMML								0	0	0	0.004007	0	12	78				
HIP1	3092	broad.mit.edu	37	7	75172291	75172291	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172291C>T	uc003uds.1	-	28	2810	c.2769G>A	c.(2767-2769)GTG>GTA	p.V923V	HIP1_uc011kfz.1_Silent_p.V749V	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	923	Important for actin binding (By similarity).|I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TATCAGCTTTCACCTACCAGG	0.522		NaN	T	PDGFRB	CMML								0	0	0	0.00245	0	10	79				
SRCRB4D	136853	broad.mit.edu	37	7	76027118	76027118	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:76027118C>T	uc003ufb.2	-	6	933	c.585G>A	c.(583-585)GCG>GCA	p.A195A	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	195	SRCR 2.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						GACACAGGTTCGCGCCCCCTA	0.706		NaN											0	0	0	0.000602	0	4	30				
AKAP9	10142	broad.mit.edu	37	7	91631200	91631200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91631200G>C	uc003ulg.2	+	8	2194	c.1969G>C	c.(1969-1971)GAT>CAT	p.D657H	AKAP9_uc003ule.2_Missense_Mutation_p.D669H|AKAP9_uc003ulf.2_Missense_Mutation_p.D657H|AKAP9_uc003uli.2_Missense_Mutation_p.D282H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	669	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTTAAAGATAATTTAGG	0.323		NaN	T	BRAF	papillary thyroid								0	0	0	0.000602	0	4	21				
AKAP9	10142	broad.mit.edu	37	7	91722446	91722446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91722446C>G	uc003ulg.2	+	39	9619	c.9394C>G	c.(9394-9396)CAA>GAA	p.Q3132E	AKAP9_uc003ulf.2_Missense_Mutation_p.Q3124E|AKAP9_uc003uli.2_Missense_Mutation_p.Q2755E|AKAP9_uc003ulj.2_Missense_Mutation_p.Q902E|AKAP9_uc003ull.2_Missense_Mutation_p.Q28E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3136	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGCAGTCTCAAATGCTGGA	0.378		NaN	T	BRAF	papillary thyroid								0	0	0	0.00308	0	6	36				
ANKIB1	54467	broad.mit.edu	37	7	92027928	92027928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92027928G>C	uc003ulw.2	+	20	3311	c.2935G>C	c.(2935-2937)GAC>CAC	p.D979H	ANKIB1_uc010lew.1_Missense_Mutation_p.D248H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	979							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGGTTTCATGACATGAACCC	0.478		NaN											0	0	0	0.003954	0	20	96				
PEX1	5189	broad.mit.edu	37	7	92118624	92118624	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92118624C>A	uc003uly.2	-	23	3846	c.3750G>T	c.(3748-3750)TGG>TGT	p.W1250C	PEX1_uc011khr.1_Missense_Mutation_p.W1042C|PEX1_uc010ley.2_Missense_Mutation_p.W1193C|PEX1_uc011khs.1_Missense_Mutation_p.W928C	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1250					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAAAATTCTTCCAGTCATCTT	0.378		NaN											1	0	3.59834e-05	0.001168	3.71589e-05	5	25				
PEX1	5189	broad.mit.edu	37	7	92147127	92147127	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92147127C>T	uc003uly.2	-	5	798	c.702G>A	c.(700-702)GAG>GAA	p.E234E	PEX1_uc011khr.1_Silent_p.E26E|PEX1_uc010ley.2_Silent_p.E234E|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	234					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAACTGGAATCTCTGACTCGT	0.373		NaN											0	0	0	0.004672	0	3	23				
CALCR	799	broad.mit.edu	37	7	93055834	93055834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:93055834C>T	uc003umv.1	-	15	1622	c.1361G>A	c.(1360-1362)CGC>CAC	p.R454H	CALCR_uc011kia.1_Missense_Mutation_p.R234H|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R420H|CALCR_uc003umw.2_Missense_Mutation_p.R420H	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	436	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTTGGAGGGGCGCCTCCCCCA	0.562		NaN											0	0	0	0.010729	0	10	79				
LMTK2	22853	broad.mit.edu	37	7	97821789	97821789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:97821789C>T	uc003upd.1	+	11	2305	c.2012C>T	c.(2011-2013)TCC>TTC	p.S671F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	671					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACTTTAAGTTCCAGTTTGGAT	0.413		NaN											0	0	0	0.007413	0	17	99				
CYP3A4	1576	broad.mit.edu	37	7	99364028	99364028	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99364028C>T	uc003urv.1	-	9	941	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	CYP3A4_uc003urw.1_Silent_p.Q278Q|CYP3A4_uc011kiz.1_Silent_p.Q238Q|CYP3A4_uc011kja.1_Silent_p.Q230Q|CYP3A4_uc011kjb.1_Silent_p.Q129Q	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	279				Q -> HK (in Ref. 1; BAA00001/AAA35742).	alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTTTGAATTCTGAGAGTCAA	0.448		NaN											0	0	0	0.001984	0	5	32				
ZSCAN21	7589	broad.mit.edu	37	7	99654714	99654714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99654714G>A	uc003uso.2	+	2	229	c.85G>A	c.(85-87)GAG>AAG	p.E29K	ZSCAN21_uc011kje.1_Missense_Mutation_p.E28K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E28K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	29					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGTAAAAGTCGAGGAGAAAGA	0.557		NaN											0	0	0	0.002299	0	22	111				
GATS	352954	broad.mit.edu	37	7	99869490	99869490	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99869490G>C	uc003uua.3	-	1	366	c.117C>G	c.(115-117)ATC>ATG	p.I39M	GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	39											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCAAGTTTGATCAGGCCCG	0.677		NaN											0	0	0	0.006122	0	15	122				
MOSPD3	64598	broad.mit.edu	37	7	100212805	100212805	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100212805G>A	uc003uvq.2	+	6	909	c.707G>A	c.(706-708)TGA>TAA	p.*236*	MOSPD3_uc003uvr.2_Silent_p.*236*|MOSPD3_uc003uvs.2_Silent_p.*236*|MOSPD3_uc003uvt.2_Silent_p.*226*	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	236						integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCGGACCTGAGCTCCGTGC	0.622		NaN											0	0	0	0.012319	0	16	103				
EPHB4	2050	broad.mit.edu	37	7	100404054	100404054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100404054C>T	uc003uwn.1	-	14	2963	c.2472G>A	c.(2470-2472)ATG>ATA	p.M824I	EPHB4_uc003uwm.1_Missense_Mutation_p.M731I|EPHB4_uc010lhj.1_Missense_Mutation_p.M824I	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	824	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGATTGCTCATGTCCCAGT	0.547		NaN											0	0	0	0.012319	0	18	78				
PSMC2	5701	broad.mit.edu	37	7	103008184	103008184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:103008184C>T	uc003vbs.2	+	11	1142	c.1072C>T	c.(1072-1074)CAC>TAC	p.H358Y	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.H221Y	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	358					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						ATTTAAGATTCACGCTCGTTC	0.338		NaN											0	0	0	0.001855	0	13	48				
LAMB1	3912	broad.mit.edu	37	7	107599732	107599732	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:107599732C>T	uc003vew.2	-	20	2987	c.2652G>A	c.(2650-2652)TTG>TTA	p.L884L	LAMB1_uc003vev.2_Silent_p.L908L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	884	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGCAGTTCAAGCACTCCC	0.542		NaN											0	0	0	0.013114	0	35	238				
DOCK4	9732	broad.mit.edu	37	7	111509670	111509670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:111509670G>A	uc003vfx.2	-	21	2338	c.2069C>T	c.(2068-2070)ACA>ATA	p.T690I	DOCK4_uc003vfw.2_Missense_Mutation_p.T131I|DOCK4_uc003vfy.2_Missense_Mutation_p.T690I|DOCK4_uc003vga.1_Missense_Mutation_p.T295I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	690					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTCTGCTTCTGTGATCCGGTC	0.423		NaN											0	0	0	0.00499	0	12	47				
PTPRZ1	5803	broad.mit.edu	37	7	121652246	121652246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:121652246G>A	uc003vjy.2	+	12	3541	c.3146G>A	c.(3145-3147)GGA>GAA	p.G1049E	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1049	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATAATATATGGAAATGAGACT	0.333		NaN											0	0	0	0.000602	0	4	20				
TAS2R16	50833	broad.mit.edu	37	7	122635052	122635052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:122635052C>T	uc003vkl.1	-	1	703	c.637G>A	c.(637-639)GGT>AGT	p.G213S		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	213	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						TTGCAGTGACCAGTGCTATGA	0.463		NaN											0	0	0	0.006214	0	7	44				
FLNC	2318	broad.mit.edu	37	7	128490515	128490515	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:128490515G>A	uc003vnz.3	+	32	5585	c.5376G>A	c.(5374-5376)GCG>GCA	p.A1792A	FLNC_uc003voa.3_Silent_p.A1759A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1792	Filamin 16.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCCCCTTCGCGGTGCAGAAAG	0.527		NaN											0	0	0	0.010818	0	27	142				
CPA2	1358	broad.mit.edu	37	7	129912983	129912983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:129912983C>T	uc003vpq.2	+	5	471	c.452C>T	c.(451-453)TCT>TTT	p.S151F	CPA2_uc011kpc.1_Missense_Mutation_p.S151F	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	151					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					AATATTGGCTCTTCTTTTGAG	0.473		NaN											0	0	0	0.004482	0	7	53				
OR2F2	135948	broad.mit.edu	37	7	143632802	143632802	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:143632802G>A	uc011ktv.1	+	1	477	c.477G>A	c.(475-477)CAG>CAA	p.Q159Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CTCTTGTGCAGACTGCTATCA	0.527		NaN											0	0	0	0.00499	0	14	93				
GIMAP6	474344	broad.mit.edu	37	7	150327201	150327201	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150327201G>C	uc003whn.2	-	2	454	c.30C>G	c.(28-30)CCC>CCG	p.P10P	GIMAP6_uc003whm.2_Missense_Mutation_p.P5R	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	10							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATTCTCCTGGGGAATTTGTT	0.423		NaN											0	0	0	0.012319	0	20	136				
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150439547C>G	uc003whr.1	+	3	672	c.320C>G	c.(319-321)TCT>TGT	p.S107C	GIMAP5_uc010lpu.2_5'UTR	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	107	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582		NaN											0	0	0	0.00499	0	12	117				
RP1L1	94137	broad.mit.edu	37	8	10468839	10468839	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:10468839G>A	uc003wtc.2	-	4	2998	c.2769C>T	c.(2767-2769)TCC>TCT	p.S923S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	923					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTCCTCGGACAGCCCCC	0.697		NaN											0	0	0	0.00308	0	7	44				
XPO7	23039	broad.mit.edu	37	8	21848409	21848409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21848409C>T	uc003xaa.3	+	18	2122	c.2020C>T	c.(2020-2022)CGT>TGT	p.R674C	XPO7_uc010lti.2_Missense_Mutation_p.R683C|XPO7_uc010ltk.2_Missense_Mutation_p.R675C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	674					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCACTTGGGCGTCTCCTCAT	0.418		NaN											0	0	0	0.008361	0	23	173				
FAM160B2	64760	broad.mit.edu	37	8	21958231	21958231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21958231G>A	uc011kyx.1	+	11	1519	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	490											0						ACCAGAGCCTGAGAGCTATGA	0.617		NaN											0	0	0	0.003271	0	29	176				
PRKDC	5591	broad.mit.edu	37	8	48690357	48690357	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48690357C>T	uc003xqi.2	-	85	11989	c.11932G>A	c.(11932-11934)GGC>AGC	p.G3978S	PRKDC_uc003xqj.2_Missense_Mutation_p.G3947S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3978	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACATAAGGCCCGTTTCTTTC	0.498		NaN						NHEJ					0	0	0	0.001855	0	13	102				
PRKDC	5591	broad.mit.edu	37	8	48772207	48772207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48772207C>T	uc003xqi.2	-	47	6229	c.6172G>A	c.(6172-6174)GAC>AAC	p.D2058N	PRKDC_uc003xqj.2_Missense_Mutation_p.D2058N|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2058					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCTAGGGTCTTGGGAGCTG	0.443		NaN						NHEJ					0	0	0	0.012213	0	23	173				
LYN	4067	broad.mit.edu	37	8	56922538	56922538	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:56922538G>C	uc003xsk.3	+	13	1690	c.1408G>C	c.(1408-1410)GAT>CAT	p.D470H	LYN_uc003xsl.3_Missense_Mutation_p.D449H	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	470	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAACTGCCCAGATGAGCTCTA	0.483		NaN											0	0	0	0.008291	0	10	73				
ASPH	444	broad.mit.edu	37	8	62438579	62438579	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:62438579C>T	uc003xuj.2	-	22	2126	c.1857G>A	c.(1855-1857)CTG>CTA	p.L619L	ASPH_uc011leg.1_Silent_p.L590L	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	619	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTTTTCCCTCAGGTTTTCAT	0.493		NaN											0	0	0	0.004482	0	7	55				
VCPIP1	80124	broad.mit.edu	37	8	67547599	67547599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:67547599C>T	uc003xwn.2	-	3	3065	c.2806G>A	c.(2806-2808)GAT>AAT	p.D936N		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	936					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTTGCCATCAGCCATACCT	0.323		NaN											0	0	0	0.006214	0	6	36				
SULF1	23213	broad.mit.edu	37	8	70515500	70515500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70515500G>A	uc010lza.1	+	11	1852	c.1135G>A	c.(1135-1137)GAT>AAT	p.D379N	SULF1_uc003xyd.2_Missense_Mutation_p.D379N|SULF1_uc003xye.2_Missense_Mutation_p.D379N|SULF1_uc003xyf.2_Missense_Mutation_p.D379N|SULF1_uc003xyg.2_Missense_Mutation_p.D379N|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	379					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CACACCTCCTGATGTGGACGG	0.542		NaN											0	0	0	0.007291	0	29	110				
SLCO5A1	81796	broad.mit.edu	37	8	70585257	70585257	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70585257G>A	uc003xyl.2	-	10	3101	c.2394C>T	c.(2392-2394)TTC>TTT	p.F798F	SLCO5A1_uc010lzb.2_Silent_p.F743F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	798	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577		NaN											0	0	0	0.001368	0	11	135				
C8orf84	157869	broad.mit.edu	37	8	73979650	73979650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:73979650G>C	uc003xzf.2	-	5	926	c.721C>G	c.(721-723)CAA>GAA	p.Q241E		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	RPE-spondin precursor	241					immune response	extracellular region	polysaccharide binding|scavenger receptor activity				0						CAAGTTCCTTGACACCGAGGA	0.373		NaN											0	0	0	0.004482	0	6	80				
JPH1	56704	broad.mit.edu	37	8	75227753	75227753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:75227753G>C	uc003yae.2	-	2	522	c.482C>G	c.(481-483)ACC>AGC	p.T161S	JPH1_uc003yaf.2_Missense_Mutation_p.T161S|JPH1_uc003yag.1_Missense_Mutation_p.T25S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	161	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGCCAGCGAGGTACGCAGCGG	0.731		NaN											0	0	0	0.00308	0	5	48				
E2F5	1875	broad.mit.edu	37	8	86121423	86121423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:86121423C>T	uc003ycz.3	+	6	699	c.662C>T	c.(661-663)TCA>TTA	p.S221L	E2F5_uc003yda.3_Missense_Mutation_p.S221L|E2F5_uc010mab.2_Missense_Mutation_p.S60L|E2F5_uc003ydb.3_Missense_Mutation_p.S40L	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	221					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						AAGAGTCATTCAGGACCTATC	0.393		NaN											0	0	0	0.001984	0	5	38				
DECR1	1666	broad.mit.edu	37	8	91029411	91029411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:91029411C>G	uc003yek.1	+	2	270	c.129C>G	c.(127-129)TTC>TTG	p.F43L	DECR1_uc011lgc.1_Missense_Mutation_p.F34L|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	43					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AATCTAAATTCTTTTCACCTC	0.333		NaN											0	0	0	0.001168	0	6	32				
TMEM67	91147	broad.mit.edu	37	8	94767349	94767349	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:94767349G>C	uc011lgk.1	+	1	278	c.207G>C	c.(205-207)CAG>CAC	p.Q69H	TMEM67_uc010mau.2_Missense_Mutation_p.Q69H|TMEM67_uc010mav.2_Missense_Mutation_p.Q69H|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.Q69H|TMEM67_uc003yga.3_5'UTR	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	69					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAGCTAACCAGAGGCAAGATG	0.527		NaN											0	0	0	0.003954	0	19	196				
INTS8	55656	broad.mit.edu	37	8	95892357	95892357	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:95892357C>T	uc003yhb.2	+	27	3009	c.2883C>T	c.(2881-2883)ATC>ATT	p.I961I	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.I771I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	961					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TCAAAGCCATCGGCCAGACAG	0.388		NaN											0	0	0	0.00308	0	5	76				
TSPYL5	85453	broad.mit.edu	37	8	98288992	98288992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:98288992C>T	uc003yhy.2	-	1	1185	c.1081G>A	c.(1081-1083)GAG>AAG	p.E361K		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	361					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					TTGTCAGACTCAATGGAGCTG	0.478		NaN											0	0	0	0.010504	0	19	153				
POP1	10940	broad.mit.edu	37	8	99135698	99135698	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99135698C>G	uc003yij.3	+	2	233	c.133C>G	c.(133-135)CAA>GAA	p.Q45E	POP1_uc011lgv.1_Missense_Mutation_p.Q45E|POP1_uc003yik.2_Missense_Mutation_p.Q45E	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	45					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTCCAAGCTCAAAAACAAGG	0.274		NaN											0	0	0	0.000602	0	4	22				
POP1	10940	broad.mit.edu	37	8	99170408	99170408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99170408C>T	uc003yij.3	+	16	3084	c.2984C>T	c.(2983-2985)TCC>TTC	p.S995F	POP1_uc011lgv.1_Missense_Mutation_p.S995F|POP1_uc003yik.2_Missense_Mutation_p.S995F	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	995					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GATATGCTGTCCAGCCAGCCT	0.547		NaN											0	0	0	0.007413	0	20	167				
KCNS2	3788	broad.mit.edu	37	8	99440621	99440621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99440621G>C	uc003yin.2	+	2	764	c.414G>C	c.(412-414)CAG>CAC	p.Q138H		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	138	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGACGAGCAGAGTGACCAGG	0.577		NaN											0	0	0	0.001984	0	5	57				
RGS22	26166	broad.mit.edu	37	8	101014551	101014551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:101014551C>G	uc003yjb.1	-	18	2864	c.2669G>C	c.(2668-2670)AGA>ACA	p.R890T	RGS22_uc003yja.1_Missense_Mutation_p.R709T|RGS22_uc003yjc.1_Missense_Mutation_p.R878T|RGS22_uc011lgz.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	890	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTAAGTTATTCTCCGGAACTG	0.323		NaN											0	0	0	0.00308	0	6	29				
PKHD1L1	93035	broad.mit.edu	37	8	110510690	110510690	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:110510690G>C	uc003yne.2	+	66	10704	c.10600_splice	c.e66-1	p.S3534_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAAACAGAGCTCATTAA	0.289		NaN								HNSCC(38;0.096)			0	0	0	0.008291	0	11	39				
COL14A1	7373	broad.mit.edu	37	8	121383405	121383405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121383405C>T	uc003yox.2	+	48	5591	c.5326C>T	c.(5326-5328)CAG>TAG	p.Q1776*		NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1776	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCAGATCAGCCAGAGTT	0.522		NaN											0	0	0	0.004656	0	18	199				
MTBP	27085	broad.mit.edu	37	8	121514760	121514760	+	Silent	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121514760A>G	uc003ypc.1	+	15	1683	c.1638A>G	c.(1636-1638)TCA>TCG	p.S546S		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	546	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATTCCTCAAGTCTAATGG	0.299		NaN											0	0	0	0.004672	0	3	14				
RNF139	11236	broad.mit.edu	37	8	125487428	125487428	+	Silent	SNP	C	C	G	rs147204700		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487428C>G	uc003yrc.2	+	1	421	c.78C>G	c.(76-78)CTC>CTG	p.L26L	uc003yrb.2_5'Flank	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	26					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTGGCGCTCCGGGTGCCCT	0.662		NaN							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				0	0	0	0.00245	0	12	102				
RNF139	11236	broad.mit.edu	37	8	125487452	125487452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487452C>G	uc003yrc.2	+	1	445	c.102C>G	c.(100-102)ATC>ATG	p.I34M	uc003yrb.2_5'Flank	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	34					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTACATCATCGACGCCATCT	0.637		NaN							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				0	0	0	0.004656	0	20	169				
RNF139	11236	broad.mit.edu	37	8	125487527	125487527	+	Silent	SNP	C	C	G	rs142523795		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487527C>G	uc003yrc.2	+	1	520	c.177C>G	c.(175-177)CTC>CTG	p.L59L	uc003yrb.2_5'Flank	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	59	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTCCGGCTCTTTGGTAAGG	0.627		NaN							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				0	0	0	0.010504	0	16	167				
EFR3A	23167	broad.mit.edu	37	8	132982779	132982779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:132982779G>C	uc003yte.2	+	10	1249	c.1048G>C	c.(1048-1050)GAA>CAA	p.E350Q		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	350						plasma membrane	binding	p.S348fs*15(1)		ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTCAGCGTTGAATTCGAAGC	0.393		NaN											0	0	0	0.004672	0	3	30				
PHF20L1	51105	broad.mit.edu	37	8	133848934	133848934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:133848934G>C	uc003ytt.2	+	16	2384	c.2059G>C	c.(2059-2061)GAG>CAG	p.E687Q	PHF20L1_uc011lja.1_Missense_Mutation_p.E661Q	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	687	PHD-type.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATGTATTTGTGAGATGGATGA	0.408		NaN											0	0	0	0.004482	0	6	54				
WISP1	8840	broad.mit.edu	37	8	134225348	134225348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:134225348G>A	uc003yub.2	+	2	387	c.311G>A	c.(310-312)AGC>AAC	p.S104N	WISP1_uc003yuc.2_Missense_Mutation_p.S104N|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.S104N|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	104	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTGACTACAGCGGGGACCGC	0.612		NaN											0	0	0	0.00361	0	32	252				
PTK2	5747	broad.mit.edu	37	8	141810664	141810664	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:141810664C>A	uc003yvu.2	-	12	1217	c.987G>T	c.(985-987)GTG>GTT	p.V329V	PTK2_uc011ljq.1_5'UTR|PTK2_uc003yvp.2_5'UTR|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.V228V|PTK2_uc003yvs.2_Silent_p.V329V|PTK2_uc003yvt.2_Silent_p.V351V|PTK2_uc003yvv.2_Silent_p.V216V|PTK2_uc011ljr.1_Silent_p.V329V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	329	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGGTGCCGTCACTGTCAGAG	0.468		NaN											1	0	3.59834e-05	0.001168	3.71589e-05	6	66				
EEF1D	1936	broad.mit.edu	37	8	144668986	144668986	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144668986C>T	uc011lki.1	-	2	299	c.30G>A	c.(28-30)AAG>AAA	p.K10K	EEF1D_uc003yyp.1_Silent_p.K376K|EEF1D_uc003yyq.1_Silent_p.K426K|EEF1D_uc011lkj.1_Silent_p.K375K|EEF1D_uc003yyr.2_Silent_p.K376K|EEF1D_uc003yyt.2_Silent_p.K376K|EEF1D_uc011lkk.1_Silent_p.K10K|EEF1D_uc003yys.2_Silent_p.K10K|EEF1D_uc003yyv.2_Silent_p.K10K|EEF1D_uc003yyu.2_Silent_p.K10K|EEF1D_uc011lkl.1_Silent_p.K10K	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	10					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAACCAGATCTTCTCATGTG	0.547		NaN											0	0	0	0.00499	0	13	251				
ZNF623	9831	broad.mit.edu	37	8	144733392	144733392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144733392G>C	uc003yzd.2	+	1	1439	c.1350G>C	c.(1348-1350)CAG>CAC	p.Q450H	ZNF623_uc011lkp.1_Missense_Mutation_p.Q410H|ZNF623_uc003yzc.2_Missense_Mutation_p.Q410H	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	450	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTGCACCAGATTATTCACA	0.463		NaN											0	0	0	0.00499	0	13	96				
EPPK1	83481	broad.mit.edu	37	8	144947098	144947098	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144947098C>T	uc003zaa.1	-	1	337	c.324G>A	c.(322-324)CTG>CTA	p.L108L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	108	Plectin 2.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTTCTCCTTCAGCTCCAGCC	0.677		NaN											0	0	0	0.001168	0	5	78				
PLEC	5339	broad.mit.edu	37	8	144995185	144995185	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144995185G>T	uc003zaf.1	-	32	9385	c.9215C>A	c.(9214-9216)GCA>GAA	p.A3072E	PLEC_uc003zab.1_Missense_Mutation_p.A2935E|PLEC_uc003zac.1_Missense_Mutation_p.A2939E|PLEC_uc003zad.2_Missense_Mutation_p.A2935E|PLEC_uc003zae.1_Missense_Mutation_p.A2903E|PLEC_uc003zag.1_Missense_Mutation_p.A2913E|PLEC_uc003zah.2_Missense_Mutation_p.A2921E|PLEC_uc003zaj.2_Missense_Mutation_p.A2962E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3072	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGCTGCTCTGCCGTGAAGTA	0.597		NaN											1	0	3.76054e-38	0.00361	4.07156e-38	64	160				
PLEC	5339	broad.mit.edu	37	8	144998327	144998327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144998327C>T	uc003zaf.1	-	31	6351	c.6181G>A	c.(6181-6183)GAG>AAG	p.E2061K	PLEC_uc003zab.1_Missense_Mutation_p.E1924K|PLEC_uc003zac.1_Missense_Mutation_p.E1928K|PLEC_uc003zad.2_Missense_Mutation_p.E1924K|PLEC_uc003zae.1_Missense_Mutation_p.E1892K|PLEC_uc003zag.1_Missense_Mutation_p.E1902K|PLEC_uc003zah.2_Missense_Mutation_p.E1910K|PLEC_uc003zaj.2_Missense_Mutation_p.E1951K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2061	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ATCTCCTCCTCCACCTGCCGC	0.697		NaN											0	0	0	0.006214	0	8	78				
PLEC	5339	broad.mit.edu	37	8	145007044	145007044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007044C>G	uc003zaf.1	-	14	2235	c.2065G>C	c.(2065-2067)GAG>CAG	p.E689Q	PLEC_uc003zab.1_Missense_Mutation_p.E552Q|PLEC_uc003zac.1_Missense_Mutation_p.E556Q|PLEC_uc003zad.2_Missense_Mutation_p.E552Q|PLEC_uc003zae.1_Missense_Mutation_p.E520Q|PLEC_uc003zag.1_Missense_Mutation_p.E530Q|PLEC_uc003zah.2_Missense_Mutation_p.E538Q|PLEC_uc003zaj.2_Missense_Mutation_p.E579Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	689	Spectrin 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTGCGCCTCCACGCTGGGC	0.677		NaN											0	0	0	0.001984	0	5	77				
PLEC	5339	broad.mit.edu	37	8	145007080	145007080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007080C>T	uc003zaf.1	-	14	2199	c.2029G>A	c.(2029-2031)GAT>AAT	p.D677N	PLEC_uc003zab.1_Missense_Mutation_p.D540N|PLEC_uc003zac.1_Missense_Mutation_p.D544N|PLEC_uc003zad.2_Missense_Mutation_p.D540N|PLEC_uc003zae.1_Missense_Mutation_p.D508N|PLEC_uc003zag.1_Missense_Mutation_p.D518N|PLEC_uc003zah.2_Missense_Mutation_p.D526N|PLEC_uc003zaj.2_Missense_Mutation_p.D567N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	677	Spectrin 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCAGCGCCATCCACACGGTGC	0.662		NaN											0	0	0	0.006214	0	6	81				
PARP10	84875	broad.mit.edu	37	8	145057596	145057596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145057596C>T	uc003zal.3	-	8	2269	c.2161G>A	c.(2161-2163)GAG>AAG	p.E721K	PARP10_uc003zak.3_Missense_Mutation_p.E418K|PARP10_uc011lku.1_Missense_Mutation_p.E733K|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.E712K	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	721	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTCCAGCTCCTCCACATCC	0.692		NaN											0	0	0	0.008291	0	6	38				
GRINA	2907	broad.mit.edu	37	8	145065951	145065951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145065951C>G	uc003zan.1	+	3	637	c.471C>G	c.(469-471)ATC>ATG	p.I157M	GRINA_uc003zao.1_Missense_Mutation_p.I157M|GRINA_uc003zap.1_Missense_Mutation_p.I157M	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	157						integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAAGAGCATCCGACAGGCCT	0.612		NaN											0	0	0	0.008871	0	15	138				
SPATC1	375686	broad.mit.edu	37	8	145095934	145095934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145095934C>T	uc011lkw.1	+	3	1334	c.1232C>T	c.(1231-1233)TCG>TTG	p.S411L	SPATC1_uc011lkx.1_Missense_Mutation_p.S411L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	411										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGAACCGTCGACGAAGAGC	0.632		NaN											0	0	0	0.010504	0	21	164				
VLDLR	7436	broad.mit.edu	37	9	2652822	2652822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:2652822G>A	uc003zhk.1	+	18	2856	c.2459G>A	c.(2458-2460)CGG>CAG	p.R820Q	VLDLR_uc003zhl.1_Missense_Mutation_p.R792Q|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.R751Q	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	820	Cytoplasmic (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTGATGTGGCGGAATTGGCAA	0.423		NaN											0	0	0	0.001855	0	10	80				
NFIB	4781	broad.mit.edu	37	9	14313493	14313493	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313493G>A	uc003zle.2	-	1	453	c.18C>T	c.(16-18)ATC>ATT	p.I6I	NFIB_uc003zlf.2_Silent_p.I6I|NFIB_uc011lmo.1_Silent_p.I6I	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	6	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GAGTGAGACAGATGGGAGAAT	0.443		NaN	T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								0	0	0	0.00499	0	12	120				
NFIB	4781	broad.mit.edu	37	9	14313500	14313500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313500G>A	uc003zle.2	-	1	446	c.11C>T	c.(10-12)TCT>TTT	p.S4F	NFIB_uc003zlf.2_Missense_Mutation_p.S4F|NFIB_uc011lmo.1_Missense_Mutation_p.S4F	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	4	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACAGATGGGAGAATACATCAT	0.448		NaN	T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								0	0	0	0.004007	0	11	113				
CNTLN	54875	broad.mit.edu	37	9	17484452	17484452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:17484452G>A	uc003zmz.2	+	24	4038	c.4012G>A	c.(4012-4014)GAA>AAA	p.E1338K	CNTLN_uc003zmy.2_Missense_Mutation_p.E1339K|CNTLN_uc010mio.2_Missense_Mutation_p.E1018K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1339						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AGATTTAGAGGAAATATTAGA	0.323		NaN											0	0	0	0.001168	0	5	34				
IFNA4	3441	broad.mit.edu	37	9	21187338	21187338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21187338C>G	uc003zon.2	-	1	261	c.193G>C	c.(193-195)GAG>CAG	p.E65Q		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	65					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCATCAAACTCCTCCTCGGGG	0.512		NaN											0	0	0	0.00308	0	8	100				
KLHL9	55958	broad.mit.edu	37	9	21334174	21334174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21334174G>A	uc003zoy.2	-	1	1256	c.685C>T	c.(685-687)CGG>TGG	p.R229W	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	229	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TAATCCATCCGAGGGTCTTCC	0.428		NaN											0	0	0	0.00245	0	14	78				
TOPORS	10210	broad.mit.edu	37	9	32541498	32541498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:32541498C>T	uc003zrb.2	-	3	3192	c.3025G>A	c.(3025-3027)GAG>AAG	p.E1009K	TOPORS_uc003zrc.2_Missense_Mutation_p.E942K	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	1009					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGCTGGTTCTCCAAATCAGAA	0.428		NaN											0	0	0	0.001168	0	6	100				
UBAP2	55833	broad.mit.edu	37	9	33948389	33948389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:33948389G>T	uc003ztq.1	-	13	1366	c.1253C>A	c.(1252-1254)TCA>TAA	p.S418*	UBAP2_uc011loc.1_Nonsense_Mutation_p.S327*|UBAP2_uc011lod.1_Nonsense_Mutation_p.S151*|UBAP2_uc011loe.1_Nonsense_Mutation_p.S173*|UBAP2_uc011lof.1_Nonsense_Mutation_p.S343*|UBAP2_uc011log.1_Nonsense_Mutation_p.S364*|UBAP2_uc003ztr.2_Nonsense_Mutation_p.S290*|UBAP2_uc003zts.2_Nonsense_Mutation_p.S51*	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	418										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGAGGACTGAGGACTGGGA	0.483		NaN											1	0	4.68919e-08	0.008291	4.93278e-08	9	139				
KIF24	347240	broad.mit.edu	37	9	34257247	34257247	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:34257247C>T	uc003zua.3	-	11	2478	c.2358G>A	c.(2356-2358)CTG>CTA	p.L786L	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	786					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			AAGACCTTTTCAGTGGTTGGT	0.517		NaN											0	0	0	0.008291	0	9	80				
FANCG	2189	broad.mit.edu	37	9	35076535	35076535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35076535C>G	uc003zwb.1	-	8	1462	c.970G>C	c.(970-972)GAG>CAG	p.E324Q	FANCG_uc003zwa.1_Missense_Mutation_p.E66Q|FANCG_uc010mkj.1_Missense_Mutation_p.E66Q|FANCG_uc011lot.1_Missense_Mutation_p.E324Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	324					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATTCTACCTCAATGAGAAAC	0.463		NaN	Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.001368	0	10	70				
FANCG	2189	broad.mit.edu	37	9	35077090	35077090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35077090C>G	uc003zwb.1	-	6	1147	c.655G>C	c.(655-657)GAG>CAG	p.E219Q	FANCG_uc003zwa.1_5'UTR|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.E219Q	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	219					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGATCAGCTCCTGGAGACCT	0.567		NaN	Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.006122	0	15	67				
UNC13B	10497	broad.mit.edu	37	9	35310490	35310490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35310490C>T	uc003zwq.2	+	9	1080	c.788C>T	c.(787-789)TCC>TTC	p.S263F	UNC13B_uc010mkl.1_Missense_Mutation_p.S263F|UNC13B_uc003zwr.2_Missense_Mutation_p.S263F	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	263					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTATGGCTCCTCCTGTAAT	0.468		NaN											0	0	0	0.004007	0	14	107				
FRMPD1	22844	broad.mit.edu	37	9	37744481	37744481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:37744481G>A	uc004aag.1	+	16	2496	c.2452G>A	c.(2452-2454)GAT>AAT	p.D818N	FRMPD1_uc004aah.1_Missense_Mutation_p.D818N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	818						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TTGTGGGCCAGATGGAAGACA	0.547		NaN											0	0	0	0.010729	0	12	124				
PGM5	5239	broad.mit.edu	37	9	71080072	71080072	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:71080072T>A	uc004agr.2	+	7	1336	c.1107T>A	c.(1105-1107)AAT>AAA	p.N369K		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	369					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TCTTCTCAAATCTGATGGACT	0.453		NaN											0	0	0	0.008291	0	9	73				
SMC5	23137	broad.mit.edu	37	9	72930435	72930435	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:72930435C>G	uc004ahr.2	+	13	1864	c.1747C>G	c.(1747-1749)CAG>GAG	p.Q583E		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	583	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CCTTTGCTGTCAGTATCATAT	0.343		NaN											0	0	0	0.000602	0	4	27				
PRUNE2	158471	broad.mit.edu	37	9	79322056	79322056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:79322056C>T	uc010mpk.2	-	8	5258	c.5134G>A	c.(5134-5136)GAT>AAT	p.D1712N		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1712					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTGGATTCATCCTCAGCAACG	0.443		NaN											0	0	0	0.001984	0	5	39				
ZNF462	58499	broad.mit.edu	37	9	109694815	109694815	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:109694815C>G	uc004bcz.2	+	5	6390	c.6101C>G	c.(6100-6102)TCT>TGT	p.S2034C	ZNF462_uc010mto.2_Missense_Mutation_p.S1943C|ZNF462_uc004bda.2_Missense_Mutation_p.S1942C|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2034	C2H2-type 19.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCGTTTGTTTCTGCTTTCAGG	0.517		NaN											0	0	0	0.001855	0	10	98				
CTNNAL1	8727	broad.mit.edu	37	9	111755015	111755015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:111755015G>C	uc004bdo.1	-	3	458	c.416C>G	c.(415-417)ACA>AGA	p.T139R	CTNNAL1_uc010mtt.1_Missense_Mutation_p.T139R|CTNNAL1_uc004bdp.1_Missense_Mutation_p.T139R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	139					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TATCACTCCTGTTTTGTCTGT	0.378		NaN											0	0	0	0.009096	0	3	27				
C9orf84	158401	broad.mit.edu	37	9	114454446	114454446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:114454446G>C	uc004bfr.2	-	25	3754	c.3619C>G	c.(3619-3621)CTA>GTA	p.L1207V	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L1168V|C9orf84_uc010mug.2_Missense_Mutation_p.L1118V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1207										ovary(2)	2						ATATTAATTAGAAAAGGAGTA	0.373		NaN											0	0	0	0.001168	0	6	28				
NDUFA8	4702	broad.mit.edu	37	9	124906608	124906608	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:124906608G>C	uc004blv.2	-	4	573	c.431C>G	c.(430-432)TCA>TGA	p.S144*		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	144					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	TCTTGGTCTTGAGTGATAGGG	0.517		NaN											0	0	0	0.004482	0	6	84				
RC3H2	54542	broad.mit.edu	37	9	125621301	125621301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125621301C>A	uc010mwc.1	-	12	2171	c.1930G>T	c.(1930-1932)GAG>TAG	p.E644*	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E644*|RC3H2_uc004bne.3_Nonsense_Mutation_p.E644*	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	644	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						AGGGAGGACTCTGGAACGTTA	0.507		NaN											1	0	3.27435e-08	0.00245	3.44725e-08	15	62				
RC3H2	54542	broad.mit.edu	37	9	125642878	125642878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125642878C>G	uc010mwc.1	-	6	1196	c.955G>C	c.(955-957)GAT>CAT	p.D319H	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.D319H|RC3H2_uc004bne.3_Missense_Mutation_p.D319H|RC3H2_uc011lzf.1_Missense_Mutation_p.D56H|RC3H2_uc011lzg.1_Missense_Mutation_p.D319H|SNORD90_uc004bnf.1_5'Flank	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	319						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CAAACCTTATCAATGATAGAC	0.368		NaN											0	0	0	0.004672	0	3	48				
ANGPTL2	23452	broad.mit.edu	37	9	129870633	129870633	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:129870633C>T	uc004bqr.1	-	2	878	c.378G>A	c.(376-378)GAG>GAA	p.E126E	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	126					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						TGTTGCGGCTCTCCTTGCGCA	0.612		NaN											0	0	0	0.001368	0	10	41				
STXBP1	6812	broad.mit.edu	37	9	130434372	130434372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130434372C>T	uc004brl.2	+	12	1203	c.1006C>T	c.(1006-1008)CAG>TAG	p.Q336*	STXBP1_uc004brk.2_Nonsense_Mutation_p.Q336*	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	336					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						GAAGATGCCTCAGTACCAGAA	0.473		NaN											0	0	0	0.00333	0	20	69				
TOR2A	27433	broad.mit.edu	37	9	130494388	130494388	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130494388G>A	uc004brs.3	-	5	946	c.891C>T	c.(889-891)TTC>TTT	p.F297F	TOR2A_uc004brt.3_3'UTR|TOR2A_uc004brw.3_3'UTR|TOR2A_uc011maj.1_3'UTR|TOR2A_uc004bru.3_Silent_p.F135F|TOR2A_uc004brv.3_RNA|TOR2A_uc004brx.1_3'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	297					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						CTTCAGGGAAGAAGGTGGTGC	0.637		NaN											0	0	0	0.009535	0	28	117				
COQ4	51117	broad.mit.edu	37	9	131087436	131087436	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131087436C>T	uc004bur.3	+	3	564	c.217C>T	c.(217-219)CTA>TTA	p.L73L	TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.L73L|COQ4_uc004bus.2_Silent_p.L49L|COQ4_uc010mxy.2_Silent_p.L49L	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	73					ubiquinone biosynthetic process	mitochondrial inner membrane					0						GGTCGCAGTTCTAGGGGAGAC	0.438		NaN											0	0	0	0.006214	0	7	35				
WDR34	89891	broad.mit.edu	37	9	131396209	131396209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131396209C>G	uc004bvq.1	-	9	1549	c.1425G>C	c.(1423-1425)TTG>TTC	p.L475F	WDR34_uc004bvs.1_Missense_Mutation_p.L466F|WDR34_uc004bvr.1_Missense_Mutation_p.L447F	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	475						cytoplasm				central_nervous_system(2)|skin(1)	3						TTTGCTTGATCAAAACTGTGG	0.517		NaN											0	0	0	0.001168	0	5	52				
USP20	10868	broad.mit.edu	37	9	132630421	132630421	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630421G>C	uc004bys.2	+	11	1039	c.828G>C	c.(826-828)CGG>CGC	p.R276R	USP20_uc004byr.2_Silent_p.R276R|USP20_uc004byt.1_Silent_p.R276R	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	276					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				AGGGTGACCGGAGCCCATCAG	0.662		NaN											0	0	0	0.007291	0	24	166				
USP20	10868	broad.mit.edu	37	9	132630629	132630629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630629G>A	uc004bys.2	+	11	1247	c.1036G>A	c.(1036-1038)GAG>AAG	p.E346K	USP20_uc004byr.2_Missense_Mutation_p.E346K|USP20_uc004byt.1_Missense_Mutation_p.E346K	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	346					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GCAAGTGGACGAGGACGCTGA	0.667		NaN											0	0	0	0.007413	0	18	133				
BAT2L1	84726	broad.mit.edu	37	9	134308165	134308165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:134308165C>T	uc004can.3	+	2	332	c.277C>T	c.(277-279)CAG>TAG	p.Q93*	BAT2L1_uc004cam.1_Nonsense_Mutation_p.Q93*	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	93							protein binding				0						CAAGCAGGATCAGCAAGACCC	0.562		NaN											0	0	0	0.001368	0	10	74				
DBH	1621	broad.mit.edu	37	9	136501627	136501627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136501627G>A	uc004cel.2	+	1	143	c.134G>A	c.(133-135)AGC>AAC	p.S45N		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	45	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCGTGAGAGCCCCCTCCCC	0.647		NaN											0	0	0	0.001855	0	13	58				
DBH	1621	broad.mit.edu	37	9	136507468	136507468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136507468C>G	uc004cel.2	+	3	635	c.626C>G	c.(625-627)TCA>TGA	p.S209*		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	209	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GAGTTGCCCTCAGACGCGTGC	0.602		NaN											0	0	0	0.004672	0	3	45				
GPSM1	26086	broad.mit.edu	37	9	139250941	139250941	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139250941G>T	uc004chd.2	+	13	1980	c.1760G>T	c.(1759-1761)CGA>CTA	p.R587L	GPSM1_uc011mdu.1_Missense_Mutation_p.R78L|GPSM1_uc004che.2_Missense_Mutation_p.R78L	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	587					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGCACCTCCGAGGCCACGGC	0.716		NaN											1	0	8.60227e-14	0.004007	9.19089e-14	14	56				
TRAF2	7186	broad.mit.edu	37	9	139794080	139794080	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139794080G>A	uc010nbu.2	+	4	396	c.223G>A	c.(223-225)GAG>AAG	p.E75K	TRAF2_uc010nbv.1_Missense_Mutation_p.E75K|TRAF2_uc004cjv.2_Missense_Mutation_p.E75K|TRAF2_uc011mek.1_Missense_Mutation_p.E64K|TRAF2_uc010nbw.2_Missense_Mutation_p.E75K	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	75					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTGTGTTCACGAGGGCATATA	0.383		NaN											0	0	0	0.006122	0	15	78				
WWC3	55841	broad.mit.edu	37	X	10106775	10106775	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:10106775C>T	uc004csx.3	+	21	3081	c.2883C>T	c.(2881-2883)CTC>CTT	p.L961L	WWC3_uc010nds.2_Silent_p.L625L|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	961										ovary(4)	4						TGGCTGAGCTCATGGCCCGCA	0.597		NaN											0	0	0	0.001984	0	6	33				
GLRA2	2742	broad.mit.edu	37	X	14708969	14708969	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:14708969G>A	uc010nep.2	+	9	1400	c.1068G>A	c.(1066-1068)AAG>AAA	p.K356K	GLRA2_uc010neq.2_Silent_p.K356K|GLRA2_uc004cwe.3_Silent_p.K356K|GLRA2_uc011mio.1_Silent_p.K267K|GLRA2_uc011mip.1_Silent_p.K334K	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	356	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAAGACAGAAGAGGCAGAATA	0.468		NaN											0	0	0	0.006214	0	7	48				
NHS	4810	broad.mit.edu	37	X	17749980	17749980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:17749980C>T	uc004cxx.2	+	8	4627	c.4289C>T	c.(4288-4290)TCC>TTC	p.S1430F	NHS_uc011mix.1_Missense_Mutation_p.S1451F|NHS_uc004cxy.2_Missense_Mutation_p.S1274F|NHS_uc004cxz.2_Missense_Mutation_p.S1253F|NHS_uc004cya.2_Missense_Mutation_p.S1153F	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1430						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					TCTCAAAGATCCAAGAGGAAA	0.448		NaN											0	0	0	0.010771	0	37	48				
PDHA1	5160	broad.mit.edu	37	X	19369482	19369482	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:19369482C>T	uc004czg.3	+	4	520	c.375C>T	c.(373-375)TTC>TTT	p.F125F	PDHA1_uc004czh.3_Silent_p.F160F|PDHA1_uc011mjc.1_Silent_p.F129F|PDHA1_uc011mjd.1_Silent_p.F122F|PDHA1_uc010nfk.2_Silent_p.F122F	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	125					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	GCTTTACTTTCACCCGGGGCC	0.502		NaN											0	0	0	0.004878	0	26	67				
DDX3X	1654	broad.mit.edu	37	X	41202027	41202027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41202027G>C	uc004dfe.2	+	6	1336	c.481G>C	c.(481-483)GAG>CAG	p.E161Q	DDX3X_uc010nhf.1_Missense_Mutation_p.E145Q|DDX3X_uc004dff.2_Missense_Mutation_p.E161Q|DDX3X_uc011mkq.1_Missense_Mutation_p.E145Q|DDX3X_uc011mkr.1_Missense_Mutation_p.E161Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	161					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						GATTAATTTTGAGAAATACGA	0.373		NaN								HNSCC(61;0.18)			0	0	0	0.008871	0	14	55				
DDX3X	1654	broad.mit.edu	37	X	41203033	41203033	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41203033G>A	uc004dfe.2	+	8	1578	c.723G>A	c.(721-723)CAG>CAA	p.Q241Q	DDX3X_uc010nhf.1_Silent_p.Q225Q|DDX3X_uc004dff.2_Silent_p.Q241Q|DDX3X_uc011mkq.1_Silent_p.Q225Q|DDX3X_uc011mkr.1_Silent_p.Q241Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	241	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCTTGAGTCAGATTTATTCAG	0.403		NaN								HNSCC(61;0.18)			0	0	0	0.003163	0	12	40				
PHF16	9767	broad.mit.edu	37	X	46913947	46913947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:46913947G>A	uc004dgx.2	+	9	1411	c.1360G>A	c.(1360-1362)GAA>AAA	p.E454K	PHF16_uc004dgy.2_Missense_Mutation_p.E454K	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	454					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						GGAGGATGAAGAAAATGGGCT	0.458		NaN											0	0	0	0.009096	0	4	11				
GATA1	2623	broad.mit.edu	37	X	48650256	48650256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650256C>T	uc004dkq.3	+	3	317	c.226C>T	c.(226-228)CAG>TAG	p.Q76*		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	76					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.V74fs*60(1)|p.Q76E(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						AACAGTCTTTCAGGTGTACCC	0.587		NaN	Mis|F		megakaryoblastic leukemia of Downs Syndrome								0	0	0	0.006122	0	14	85				
GATA1	2623	broad.mit.edu	37	X	48650377	48650377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650377C>G	uc004dkq.3	+	3	438	c.347C>G	c.(346-348)TCT>TGT	p.S116C		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	116					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						CGCGAGGACTCTCCTCCCCAG	0.627		NaN	Mis|F		megakaryoblastic leukemia of Downs Syndrome								0	0	0	0.008871	0	16	49				
GATA1	2623	broad.mit.edu	37	X	48650546	48650546	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650546C>A	uc004dkq.3	+	3	607	c.516C>A	c.(514-516)TTC>TTA	p.F172L		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	172					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						CCAGTACCTTCTTTTCTCCCA	0.567		NaN	Mis|F		megakaryoblastic leukemia of Downs Syndrome								1	0	9.31168e-06	0.001855	9.66208e-06	12	33				
GATA1	2623	broad.mit.edu	37	X	48650590	48650590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650590C>T	uc004dkq.3	+	3	651	c.560C>T	c.(559-561)TCT>TTT	p.S187F		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	187					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						GCCTATTCCTCTCCCAAGCTT	0.542		NaN	Mis|F		megakaryoblastic leukemia of Downs Syndrome								0	0	0	0.003163	0	11	35				
DGKK	139189	broad.mit.edu	37	X	50129585	50129585	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:50129585C>G	uc010njr.1	-	15	2179	c.2119_splice	c.e15-1	p.S707_splice		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TTAAGTCACTCTATATAGAAA	0.483		NaN											0	0	0	0.004672	0	2	9				
SSX7	280658	broad.mit.edu	37	X	52681310	52681310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:52681310C>T	uc004dqx.1	-	4	431	c.272G>A	c.(271-273)GGG>GAG	p.G91E		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					ACCCTGATTCCCTTGGTTACG	0.517		NaN											0	0	0	0.002299	0	19	77				
PFKFB1	5207	broad.mit.edu	37	X	54975561	54975561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:54975561C>T	uc004dty.1	-	9	1011	c.940G>A	c.(940-942)GAG>AAG	p.E314K	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E249K	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	314	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						CCCAGGGCCTCAGCTGTCTGG	0.557		NaN											0	0	0	0.00499	0	15	46				
ALAS2	212	broad.mit.edu	37	X	55051212	55051212	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:55051212C>T	uc004dua.3	-	3	381	c.243G>A	c.(241-243)AAG>AAA	p.K81K	ALAS2_uc004dub.3_Silent_p.K105K|ALAS2_uc004dud.3_Silent_p.K81K	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	81					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CAATCTTGCTCTTCCCATCCT	0.488		NaN											0	0	0	0.004007	0	14	42				
HNRNPH2	3188	broad.mit.edu	37	X	100667669	100667669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:100667669G>A	uc004ehm.2	+	2	863	c.693G>A	c.(691-693)ATG>ATA	p.M231I	HNRNPH2_uc004ehn.2_Missense_Mutation_p.M231I	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	231					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						TTGAAAGGATGAGGCGTGGTG	0.522		NaN											0	0	0	0.003954	0	24	58				
MID2	11043	broad.mit.edu	37	X	107169434	107169434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:107169434G>C	uc004enl.2	+	9	2281	c.1708G>C	c.(1708-1710)GAG>CAG	p.E570Q	MID2_uc004enk.2_Missense_Mutation_p.E540Q	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	570	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						CCACACCCCAGAGAGGTTTAG	0.468		NaN											0	0	0	0.010729	0	11	30				
TMEM164	84187	broad.mit.edu	37	X	109416484	109416484	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:109416484G>A	uc004eom.2	+	7	1018	c.699G>A	c.(697-699)GTG>GTA	p.V233V	TMEM164_uc004eol.2_Silent_p.V84V|TMEM164_uc010npq.2_Silent_p.V194V|TMEM164_uc004eon.1_5'Flank	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN	transmembrane protein 164 isoform b	233						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						TCACCGAAGTGAATTTGAACA	0.557		NaN											0	0	0	0.00632	0	23	79				
DCX	1641	broad.mit.edu	37	X	110653275	110653275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:110653275C>T	uc004epd.2	-	2	767	c.595G>A	c.(595-597)GAA>AAA	p.E199K	DCX_uc011msv.1_Missense_Mutation_p.E199K|DCX_uc004epe.2_Missense_Mutation_p.E118K|DCX_uc004epf.2_Missense_Mutation_p.E118K|DCX_uc004epg.2_Missense_Mutation_p.E118K	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	199	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TCCTCCAGTTCATCCATGCTT	0.468		NaN											0	0	0	0.003163	0	13	50				
GPC4	2239	broad.mit.edu	37	X	132440162	132440162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:132440162C>G	uc004exc.1	-	5	1110	c.898G>C	c.(898-900)GAG>CAG	p.E300Q	GPC4_uc011mvg.1_Missense_Mutation_p.E230Q	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	300					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					TCTAGCCTCTCTGCCACCATC	0.393		NaN											0	0	0	0.006122	0	17	82				
MAGEC2	51438	broad.mit.edu	37	X	141291072	141291072	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:141291072C>T	uc004fbu.1	-	3	1050	c.702G>A	c.(700-702)CTG>CTA	p.L234L		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	234	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCACACTCAGAATAATAA	0.512		NaN								HNSCC(46;0.14)			0	0	0	0.010504	0	16	94				
AFF2	2334	broad.mit.edu	37	X	148037319	148037319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:148037319G>A	uc004fcp.2	+	11	2223	c.1744G>A	c.(1744-1746)GAA>AAA	p.E582K	AFF2_uc004fcq.2_Missense_Mutation_p.E572K|AFF2_uc004fcr.2_Missense_Mutation_p.E543K|AFF2_uc011mxb.1_Missense_Mutation_p.E547K|AFF2_uc004fcs.2_Missense_Mutation_p.E549K|AFF2_uc011mxc.1_Missense_Mutation_p.E223K	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	582					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCCAGCTGAACCCAAAGA	0.478		NaN											0	0	0	0.012319	0	19	74				
SLC6A8	6535	broad.mit.edu	37	X	152958597	152958597	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:152958597C>G	uc004fib.3	+	5	1157	c.879C>G	c.(877-879)CTC>CTG	p.L293L	SLC6A8_uc004fic.3_Silent_p.L293L|SLC6A8_uc011myx.1_Silent_p.L178L|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	293	Extracellular (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTTACTATCTCAAGCCTGACT	0.632		NaN											0	0	0	0.000602	0	5	9				
FAM50A	9130	broad.mit.edu	37	X	153674218	153674218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:153674218G>C	uc004fll.3	+	3	353	c.255G>C	c.(253-255)GAG>GAC	p.E85D		NM_004699	NP_004690	Q14320	FA50A_HUMAN	XAP-5 protein	85					spermatogenesis	nucleus				ovary(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCGGGAGAAGCAGCTGG	0.607		NaN											0	0	0	0.010729	0	9	25				
F8	2157	broad.mit.edu	37	X	154088779	154088779	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:154088779C>T	uc004fmt.2	-	25	6999	c.6828G>A	c.(6826-6828)GTG>GTA	p.V2276V	F8_uc004fms.2_Silent_p.V141V	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2276	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAACTCCTTCACATACATGC	0.418		NaN											0	0	0	0.004007	0	14	60				
TBL1Y	90665	broad.mit.edu	37	Y	6954349	6954349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:6954349G>A	uc004frb.2	+	16	1818	c.1171G>A	c.(1171-1173)GAT>AAT	p.D391N	TBL1Y_uc004frc.2_Missense_Mutation_p.D391N|TBL1Y_uc004frd.2_Missense_Mutation_p.D391N|TBL1Y_uc011nap.1_Missense_Mutation_p.D233N	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	391	WD 5.				transcription, DNA-dependent						0						TATGAAGCAGGATGCATGCGT	0.547		NaN											0	0	0	0.00499	0	15	43				
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:880925C>T	uc001abz.3	-	17	2085	c.2026G>A	c.(2026-2028)GAC>AAC	p.D676N	NOC2L_uc001aby.3_Missense_Mutation_p.D473N|NOC2L_uc009vjq.2_Missense_Mutation_p.D676N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577		NaN											0	0	0	0.012319	0	21	51				
TP73	7161	broad.mit.edu	37	1	3624302	3624302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:3624302C>T	uc001akp.2	+	4	486	c.376C>T	c.(376-378)CAC>TAC	p.H126Y	TP73_uc001akq.2_Missense_Mutation_p.H126Y|TP73_uc010nzj.1_Missense_Mutation_p.H77Y|TP73_uc001akr.2_Missense_Mutation_p.H77Y|TP73_uc009vlk.1_Missense_Mutation_p.H77Y|TP73_uc001aks.2_Missense_Mutation_p.H77Y|TP73_uc009vll.2_Missense_Mutation_p.H55Y|TP73_uc010nzk.1_Missense_Mutation_p.H55Y	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	126					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGGACCCCACCACTTTGAGGT	0.557		NaN											0	0	0	0.00499	0	16	59				
TNFRSF25	8718	broad.mit.edu	37	1	6524508	6524508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:6524508G>A	uc001ane.2	-	5	557	c.469C>T	c.(469-471)CGC>TGC	p.R157C	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R112C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R157C|TNFRSF25_uc001ani.1_Missense_Mutation_p.R157C	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	157	TNFR-Cys 3.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GTATCTCTGCGGGAACCTGCA	0.607		NaN											0	0	0	0.013537	0	11	6				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887606C>G	uc001auk.2	-	3	447	c.251G>C	c.(250-252)TGC>TCC	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	84											0						ATTGAGGAAGCACCCATGGGC	0.483		NaN											0	0	0	0.014758	0	4	356				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:12887612T>C	uc001auk.2	-	3	441	c.245A>G	c.(244-246)CAT>CGT	p.H82R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	82											0						GAAGCACCCATGGGCCATAGC	0.488		NaN											0	0	0	0.001168	0	5	358				
PRDM2	7799	broad.mit.edu	37	1	14106203	14106203	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:14106203A>G	uc001avi.2	+	8	2769	c.1913A>G	c.(1912-1914)AAG>AGG	p.K638R	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K638R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.K395R|PRDM2_uc001avk.2_Missense_Mutation_p.K437R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	638						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGGCCAAGAAGCGGAGAACT	0.473		NaN											0	0	0	0.001984	0	7	29				
EPHA2	1969	broad.mit.edu	37	1	16475491	16475491	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:16475491C>A	uc001aya.1	-	3	342	c.205G>T	c.(205-207)GTG>TTG	p.V69L	EPHA2_uc010oca.1_Missense_Mutation_p.V69L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	69	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGTTGCACACGGAGTACATG	0.537		NaN											1	0	2.55665e-31	0.01441	2.99182e-31	44	42				
RCC2	55920	broad.mit.edu	37	1	17738662	17738662	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17738662C>T	uc001bal.2	-	10	1389	c.1342G>A	c.(1342-1344)GAG>AAG	p.E448K	RCC2_uc001bam.2_Missense_Mutation_p.E448K	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	448	RCC1 7.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGGTGCTCTCATCGGCGGCC	0.622		NaN											0	0	0	0.009718	0	39	40				
ACTL8	81569	broad.mit.edu	37	1	18152535	18152535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:18152535C>T	uc001bat.2	+	3	838	c.622C>T	c.(622-624)CAG>TAG	p.Q208*		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	208						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCGTGACTCAGATGAACAA	0.562		NaN									OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009535	0	32	17				
TMCO4	255104	broad.mit.edu	37	1	20107204	20107204	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:20107204C>T	uc001bcn.2	-	4	290	c.48G>A	c.(46-48)CTG>CTA	p.L16L	TMCO4_uc001bcm.2_Silent_p.L16L|TMCO4_uc001bco.1_Silent_p.L16L|TMCO4_uc001bcp.1_Silent_p.L16L|TMCO4_uc009vpn.1_Silent_p.L16L|TMCO4_uc001bcq.1_Silent_p.L16L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	16						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTCAGCTACCAGAGGCTGCT	0.532		NaN											0	0	0	0.010504	0	19	18				
HSPG2	3339	broad.mit.edu	37	1	22165877	22165877	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:22165877G>A	uc001bfj.2	-	73	9916	c.9876C>T	c.(9874-9876)ATC>ATT	p.I3292I	HSPG2_uc009vqd.2_Silent_p.I3293I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3292	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCACGTGCAGGATGATGGTGG	0.597		NaN											0	0	0	0.015359	0	32	24				
ASAP3	55616	broad.mit.edu	37	1	23782407	23782407	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:23782407G>A	uc001bha.2	-	3	439	c.315C>T	c.(313-315)TTC>TTT	p.F105F	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Silent_p.F105F|ASAP3_uc001bhc.1_Silent_p.F105F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	105					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CCTCGCGGGTGAACACGGCCA	0.557		NaN											0	0	0	0.01441	0	93	46				
GALE	2582	broad.mit.edu	37	1	24124627	24124627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24124627C>G	uc009vqo.1	-	4	541	c.331G>C	c.(331-333)GGG>CGG	p.G111R	GALE_uc001bhv.1_Missense_Mutation_p.G111R|GALE_uc001bhw.1_Missense_Mutation_p.G111R|GALE_uc001bhx.1_Missense_Mutation_p.G111R|GALE_uc009vqp.1_Missense_Mutation_p.G111R|GALE_uc001bhy.1_Missense_Mutation_p.G111R|GALE_uc001bhz.1_Missense_Mutation_p.G37R|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	111					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGGATGGTCCCGGTCAGGTTA	0.592		NaN											0	0	0	0.010729	0	10	109				
C1orf130	400746	broad.mit.edu	37	1	24932122	24932122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:24932122G>A	uc001bjk.1	+	4	259	c.193G>A	c.(193-195)GAG>AAG	p.E65K		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	chromosome 1 open reading frame 130	65						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		GCGGGAACTAGAGCCCAAGGG	0.587		NaN											0	0	0	0.01441	0	51	29				
C1orf135	79000	broad.mit.edu	37	1	26161564	26161564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26161564C>T	uc001bkw.1	-	3	994	c.994G>A	c.(994-996)GGG>AGG	p.G332R		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	332											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTTGGCCCATCCTCCTGG	0.443		NaN											0	0	0	0.017118	0	35	492				
LIN28A	79727	broad.mit.edu	37	1	26752761	26752761	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:26752761C>T	uc001bmj.2	+	4	556	c.442C>T	c.(442-444)CAT>TAT	p.H148Y	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	148	CCHC-type 1.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCTAGATCATCATGCCAAGGA	0.423		NaN											0	0	0	0.01892	0	21	65				
SFN	2810	broad.mit.edu	37	1	27189796	27189796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27189796G>C	uc001bnc.1	+	1	164	c.93G>C	c.(91-93)GAG>GAC	p.E31D	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	31					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GCGCCGTGGAGAAGGGCGAGG	0.607		NaN											0	0	0	0.013537	0	13	114				
FAM46B	115572	broad.mit.edu	37	1	27332436	27332436	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:27332436C>G	uc010ofj.1	-	2	1449	c.1277G>C	c.(1276-1278)TGA>TCA	p.*426S		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	426										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTGAGTCAGTTACAAGG	0.622		NaN											0	0	0	0.01441	0	81	54				
XKR8	55113	broad.mit.edu	37	1	28290197	28290197	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28290197C>T	uc001bph.1	+	2	560	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related	161	Helical; (Potential).					integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GGGCTGAGTACTACCAGTGTG	0.567		NaN											0	0	0	0.010729	0	12	4				
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800272	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:28800272T>C	uc001bpw.2	+	7	1312	c.1030T>C	c.(1030-1032)TCC>CCC	p.S344P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S328P|PHACTR4_uc001bpy.2_Missense_Mutation_p.S354P	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512		NaN											0	0	0	0.014758	0	4	301				
YTHDF2	51441	broad.mit.edu	37	1	29095440	29095440	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:29095440G>A	uc001brc.2	+	5	2214	c.1717_splice	c.e5-1	p.E573_splice	YTHDF2_uc001brd.2_Splice_Site_p.E570_splice|YTHDF2_uc010ofx.1_Splice_Site_p.E523_splice|YTHDF2_uc001bre.2_Splice_Site_p.E523_splice	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8						humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCTGTAGGAACGTCAAG	0.328		NaN											0	0	0	0.001168	0	5	20				
CSMD2	114784	broad.mit.edu	37	1	34238233	34238233	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:34238233C>G	uc001bxn.1	-	13	1692	c.1663G>C	c.(1663-1665)GGA>CGA	p.G555R	CSMD2_uc001bxm.1_Missense_Mutation_p.G595R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	555	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCTGTCCCACCAGCTCA	0.577		NaN											0	0	0	0.001168	0	5	101				
CAP1	10487	broad.mit.edu	37	1	40525754	40525754	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:40525754A>G	uc001cfa.3	+	3	357	c.128A>G	c.(127-129)TAT>TGT	p.Y43C	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.Y43C|CAP1_uc001cez.3_Missense_Mutation_p.Y43C|CAP1_uc009vvz.2_Missense_Mutation_p.Y43C|CAP1_uc010oje.1_Missense_Mutation_p.M13V	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	43					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTCCATATGTGCAGGCA	0.458		NaN											0	0	0	0.016522	0	22	26				
KIAA0494	9813	broad.mit.edu	37	1	47181986	47181986	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:47181986G>A	uc001cqk.3	-	2	1292	c.315C>T	c.(313-315)CTC>CTT	p.L105L	KIAA0494_uc010omh.1_Silent_p.L105L|KIAA0494_uc001cql.1_Silent_p.L105L	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	105							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					ATTTTTCCTTGAGGGCATCCA	0.338		NaN											0	0	0	0.008291	0	11	27				
LEPR	3953	broad.mit.edu	37	1	66102578	66102578	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:66102578T>C	uc001dci.2	+	20	3580	c.3378T>C	c.(3376-3378)AAT>AAC	p.N1126N	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1126	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTAGAAAATAATATCAACT	0.403		NaN											0	0	0	0.001168	0	5	22				
ANKRD34A	284615	broad.mit.edu	37	1	145474162	145474162	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:145474162G>T	uc001enq.1	+	4	2127	c.834G>T	c.(832-834)CTG>CTT	p.L278L	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	278	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAATGGCCTGACCCTGACCG	0.652		NaN											1	0	7.41877e-09	0.012319	8.30601e-09	22	41				
UBAP2L	9898	broad.mit.edu	37	1	154224128	154224128	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:154224128A>G	uc001fep.3	+	14	1830	c.1663A>G	c.(1663-1665)AGT>GGT	p.S555G	UBAP2L_uc009wot.2_Missense_Mutation_p.S555G|UBAP2L_uc010pek.1_Missense_Mutation_p.S547G|UBAP2L_uc010pel.1_Missense_Mutation_p.S565G|UBAP2L_uc010pen.1_Missense_Mutation_p.S469G	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	555					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCACGGCCAGGTAGAGGAA	0.493		NaN											0	0	0	0.010818	0	31	225				
LMNA	4000	broad.mit.edu	37	1	156100457	156100457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156100457G>A	uc001fni.2	+	2	655	c.406G>A	c.(406-408)GAC>AAC	p.D136N	LMNA_uc001fnf.1_Missense_Mutation_p.D136N|LMNA_uc001fng.2_Missense_Mutation_p.D136N|LMNA_uc001fnh.2_Missense_Mutation_p.D136N|LMNA_uc009wro.1_Missense_Mutation_p.D136N|LMNA_uc010pgz.1_Missense_Mutation_p.D24N|LMNA_uc001fnj.2_Missense_Mutation_p.D55N|LMNA_uc001fnk.2_Missense_Mutation_p.D37N	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	136	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					TCGGCTGAAGGACCTGGAGGC	0.572		NaN							Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	72	28				
PRCC	5546	broad.mit.edu	37	1	156756616	156756616	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:156756616A>G	uc001fqa.2	+	3	1023	c.733A>G	c.(733-735)ATC>GTC	p.I245V	PRCC_uc001fqb.2_Missense_Mutation_p.I245V	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	245					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTGCTATCAAGGCTGC	0.552		NaN	T	TFE3	papillary renal 								0	0	0	0.010729	0	9	23				
FCGR3A	2214	broad.mit.edu	37	1	161512834	161512834	+	Missense_Mutation	SNP	A	A	G	rs1042208	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:161512834A>G	uc001gat.3	-	6	870	c.733T>C	c.(733-735)TTT>CTT	p.F245L	FCGR3A_uc001gar.2_Missense_Mutation_p.F281L|FCGR3A_uc001gas.2_Missense_Mutation_p.F280L|FCGR3A_uc009wuh.2_Missense_Mutation_p.F244L|FCGR3A_uc009wui.2_Missense_Mutation_p.F245L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	245	Cytoplasmic (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCATTTAAATTTATGGTCC	0.443		NaN											0	0	0	0.010729	0	4	205				
DCAF6	55827	broad.mit.edu	37	1	167906233	167906233	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:167906233G>A	uc001gew.2	+	1	326	c.84G>A	c.(82-84)CGG>CGA	p.R28R	BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Silent_p.R28R|DCAF6_uc001gex.2_Silent_p.R28R|DCAF6_uc010plk.1_Silent_p.R28R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	28					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCCGGCTGCGGAGTCGATACC	0.711		NaN											0	0	0	0.020292	0	11	17				
F5	2153	broad.mit.edu	37	1	169519105	169519105	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169519105G>A	uc001ggg.1	-	10	1690	c.1545C>T	c.(1543-1545)ATC>ATT	p.I515I	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	515	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCCCAGAGGCGATGTCTCTCA	0.423		NaN											0	0	0	0.008291	0	9	48				
SCYL3	57147	broad.mit.edu	37	1	169845137	169845137	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:169845137A>C	uc001ggs.2	-	4	645	c.447T>G	c.(445-447)GTT>GTG	p.V149V	SCYL3_uc001ggt.2_Silent_p.V149V|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	149	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGAGAAACTTTACAAA	0.463		NaN											0	0	0	0.009096	0	3	41				
RASAL2	9462	broad.mit.edu	37	1	178269155	178269155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:178269155A>G	uc001glq.2	+	3	1123	c.359A>G	c.(358-360)CAG>CGG	p.Q120R	RASAL2_uc009wxb.2_Missense_Mutation_p.Q120R	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.E120*(1)		ovary(2)|breast(2)|large_intestine(1)	5						CAGGAGCAGCAGACAGATTCC	0.478		NaN									OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	23	29				
KIF21B	23046	broad.mit.edu	37	1	200954055	200954055	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:200954055C>T	uc001gvs.1	-	27	4052	c.3735G>A	c.(3733-3735)CGG>CGA	p.R1245R	KIF21B_uc001gvr.1_Silent_p.R1245R|KIF21B_uc009wzl.1_Silent_p.R1245R|KIF21B_uc010ppn.1_Silent_p.R1245R	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CATTGCGGGGCCGAGTGGGAG	0.627		NaN											0	0	0	0.010504	0	20	41				
NAV1	89796	broad.mit.edu	37	1	201779122	201779122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201779122G>C	uc001gwu.2	+	22	4788	c.4441G>C	c.(4441-4443)GAG>CAG	p.E1481Q	NAV1_uc001gwx.2_Missense_Mutation_p.E1090Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1484					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						ACTAAGCACTGAGTCCATCCA	0.478		NaN											0	0	0	0.021523	0	25	43				
TIMM17A	10440	broad.mit.edu	37	1	201932815	201932815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:201932815G>A	uc001gxc.2	+	4	298	c.262G>A	c.(262-264)GAT>AAT	p.D88N		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	88					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						AGGAAAGGAAGATCCCTGGAA	0.418		NaN											0	0	0	0.00499	0	18	20				
CNIH3	149111	broad.mit.edu	37	1	224922305	224922305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:224922305G>A	uc001hos.1	+	5	1050	c.352G>A	c.(352-354)GAC>AAC	p.D118N		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	118	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		ACTAGCCTACGACCCACCGGT	0.517		NaN											0	0	0	0.008361	0	29	41				
C1orf55	163859	broad.mit.edu	37	1	226175920	226175920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:226175920C>T	uc001hpu.3	-	6	864	c.811G>A	c.(811-813)GTA>ATA	p.V271I	C1orf55_uc001hpv.2_Missense_Mutation_p.V271I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	271										lung(1)	1	Breast(184;0.197)					GTATTCACTACTCTCGCCCTC	0.502		NaN											0	0	0	0.004656	0	22	159				
CABC1	56997	broad.mit.edu	37	1	227152913	227152913	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:227152913C>T	uc001hqm.1	+	8	3809	c.390C>T	c.(388-390)TTC>TTT	p.F130F	CABC1_uc010pvp.1_Silent_p.F93F|CABC1_uc001hqn.1_Silent_p.F130F|CABC1_uc009xeq.1_Silent_p.F78F|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	130					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				AAGCCGGGTTCCCCGGCCAGG	0.657		NaN											0	0	0	0.00499	0	16	28				
PLD5	200150	broad.mit.edu	37	1	242383325	242383325	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:242383325C>A	uc001hzn.1	-	5	827	c.700G>T	c.(700-702)GGC>TGC	p.G234C	PLD5_uc001hzl.3_Missense_Mutation_p.G172C|PLD5_uc001hzm.3_Missense_Mutation_p.G24C|PLD5_uc001hzo.1_Missense_Mutation_p.G142C			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	234	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCGGCACTGCCGATATACACG	0.517		NaN											1	0	4.7546e-09	0.004007	5.35045e-09	15	25				
OR2L8	391190	broad.mit.edu	37	1	248112660	248112660	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248112660T>C	uc001idt.1	+	1	501	c.501T>C	c.(499-501)TAT>TAC	p.Y167Y	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATATTCCTTATTGCCGATCCA	0.473		NaN											0	0	0	0.007291	0	26	92				
OR2L3	391192	broad.mit.edu	37	1	248224484	248224484	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:248224484T>C	uc001idx.1	+	1	501	c.501T>C	c.(499-501)TAT>TAC	p.Y167Y	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATATTCCTTATTGCCAATCCA	0.463		NaN											0	0	0	0.00499	0	9	61				
ARHGAP21	57584	broad.mit.edu	37	10	24880173	24880173	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:24880173G>A	uc001isb.2	-	24	4618	c.4131C>T	c.(4129-4131)GTC>GTT	p.V1377V	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1376					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CTCCTGGGGAGACTCCTGTCC	0.438		NaN											0	0	0	0.01441	0	75	84				
LRRTM3	347731	broad.mit.edu	37	10	68688007	68688007	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:68688007T>C	uc001jmz.1	+	2	1883	c.1333T>C	c.(1333-1335)TAC>CAC	p.Y445H	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.Y445H	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	445	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						ATGGAAGCGGTACCCTGCGAG	0.552		NaN											0	0	0	0.007413	0	18	57				
CDHR1	92211	broad.mit.edu	37	10	85973933	85973933	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:85973933C>T	uc001kcv.2	+	17	2136	c.2136C>T	c.(2134-2136)GTC>GTT	p.V712V	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.V416V|CDHR1_uc001kcx.2_Silent_p.V26V	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	712	Helical; (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TGGCCACCGTCGTGGCCATCA	0.637		NaN											0	0	0	0.012319	0	22	55				
PTEN	5728	broad.mit.edu	37	10	89717673	89717673	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:89717673G>A	uc001kfb.2	+	8	1729	c.698G>A	c.(697-699)CGA>CAA	p.R233Q		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233R(1)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCCACACGACGGGAAGAC	0.423		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	0.006122	0	17	44		Valid		
CALHM2	51063	broad.mit.edu	37	10	105209283	105209283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:105209283G>A	uc001kwz.2	-	2	802	c.416C>T	c.(415-417)TCC>TTC	p.S139F	CALHM2_uc001kxa.2_Missense_Mutation_p.S139F|CALHM2_uc001kxc.2_Missense_Mutation_p.S139F|CALHM2_uc001kxb.2_Missense_Mutation_p.S139F|CALHM2_uc001kxd.1_Missense_Mutation_p.S139F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	139						integral to membrane				skin(1)	1						CGTGAGTGAGGAAGGGTCCAC	0.597		NaN											0	0	0	0.016522	0	23	49				
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:123845774G>A	uc001lfv.2	+	4	4119	c.3759G>A	c.(3757-3759)GTG>GTA	p.V1253V	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.V1253V|TACC2_uc010qtv.1_Silent_p.V1253V	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1253						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGTGGAGTGAAAGCTGTTT	0.592		NaN											0	0	0	0.005524	0	36	54				
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1024858T>G	uc001lsw.2	-	24	3262	c.3211A>C	c.(3211-3213)ACC>CCC	p.T1071P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1071	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687		NaN											0	0	0	0.00308	0	5	18				
MUC6	4588	broad.mit.edu	37	11	1027765	1027765	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1027765G>A	uc001lsw.2	-	16	1952	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	634					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCAGGGCGGCACAGATGTG	0.662		NaN											0	0	0	0.008291	0	10	4				
MUC6	4588	broad.mit.edu	37	11	1028662	1028662	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1028662G>A	uc001lsw.2	-	13	1626	c.1575C>T	c.(1573-1575)TTC>TTT	p.F525F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	525	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGACCTCTGAACTGGGGCC	0.627		NaN											0	0	0	0.006214	0	9	3				
MUC2	4583	broad.mit.edu	37	11	1083168	1083168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1083168G>C	uc001lsx.1	+	16	2095	c.2068G>C	c.(2068-2070)GAG>CAG	p.E690Q		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	690						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGTCTCGAGGGCTTTGC	0.662		NaN											0	0	0	0.006122	0	14	17				
PARVA	55742	broad.mit.edu	37	11	12525871	12525871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:12525871C>T	uc001mki.2	+	6	601	c.552C>T	c.(550-552)GCC>GCT	p.A184A	PARVA_uc010rck.1_Silent_p.A131A	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	184	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		CTGTTCATGCCAAGAGCCTGG	0.458		NaN											0	0	0	0.003163	0	15	7				
AMBRA1	55626	broad.mit.edu	37	11	46419037	46419037	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46419037T>C	uc010rgu.1	-	18	4220	c.3860A>G	c.(3859-3861)GAC>GGC	p.D1287G	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1258G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D1197G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1290G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D1168G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D1227G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1287					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCT	0.602		NaN											0	0	0	0.009096	0	3	79				
LRP4	4038	broad.mit.edu	37	11	46920516	46920516	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:46920516G>A	uc001ndn.3	-	6	761	c.615C>T	c.(613-615)CTC>CTT	p.L205L	LRP4_uc009ylh.1_Silent_p.L156L	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	205	Extracellular (Potential).|LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GGTAGATGTCGAGGATGCAGC	0.642		NaN											0	0	0	0.008871	0	20	10				
PTPMT1	114971	broad.mit.edu	37	11	47587500	47587500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:47587500G>A	uc001nfs.3	+	2	410	c.217G>A	c.(217-219)GAG>AAG	p.E73K	PTPMT1_uc001nfv.3_Missense_Mutation_p.R109Q|PTPMT1_uc009ylt.2_Missense_Mutation_p.E73K|PTPMT1_uc001nfu.3_Missense_Mutation_p.R109Q|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	73					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						CACCATGAACGAGGAGTACGA	0.677		NaN											0	0	0	0.010504	0	15	20				
MAP4K2	5871	broad.mit.edu	37	11	64570095	64570095	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:64570095A>G	uc001obh.2	-	3	277	c.185T>C	c.(184-186)ATC>ACC	p.I62T	MAP4K2_uc001obi.2_Missense_Mutation_p.I62T|MAP4K2_uc010rnp.1_Missense_Mutation_p.I62T	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	62	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CAGGATGGTGATTTCCTGCTG	0.552		NaN											0	0	0	0.003163	0	11	20				
MUS81	80198	broad.mit.edu	37	11	65628568	65628568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:65628568C>T	uc001ofv.3	+	2	613	c.260C>T	c.(259-261)TCG>TTG	p.S87L	CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	87					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		CACCGAACATCGGGCGGTGAG	0.662		NaN						Homologous_recombination					0	0	0	0.005524	0	35	38				
SSH3	54961	broad.mit.edu	37	11	67071614	67071614	+	Missense_Mutation	SNP	G	G	A	rs138958962		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67071614G>A	uc001okj.2	+	2	270	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	31					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGAAGGAGTCGACTCCAGCGA	0.692		NaN											0	0	0	0.016723	0	13	14				
PITPNM1	9600	broad.mit.edu	37	11	67271650	67271650	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:67271650A>G	uc001olx.2	-	1	191	c.2T>C	c.(1-3)ATG>ACG	p.M1T	PITPNM1_uc001oly.2_Missense_Mutation_p.M1T|PITPNM1_uc001olz.2_Missense_Mutation_p.M1T	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTTGATGAGCATCCTGAAGGC	0.706		NaN											0	0	0	0.006214	0	10	25				
ARAP1	116985	broad.mit.edu	37	11	72420989	72420989	+	Missense_Mutation	SNP	G	G	C	rs77842696	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:72420989G>C	uc001osu.2	-	11	1638	c.1449C>G	c.(1447-1449)ATC>ATG	p.I483M	ARAP1_uc001osv.2_Missense_Mutation_p.I483M|ARAP1_uc001osr.2_Missense_Mutation_p.I243M|ARAP1_uc001oss.2_Missense_Mutation_p.I238M|ARAP1_uc009yth.2_Missense_Mutation_p.I238M|ARAP1_uc010rre.1_Missense_Mutation_p.I238M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	483	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CGCTCATGTCGATGAAGGTGA	0.622		NaN											0	0	0	0.012213	0	34	64				
MLL	4297	broad.mit.edu	37	11	118342391	118342391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:118342391C>T	uc001pta.2	+	3	540	c.517C>T	c.(517-519)CGA>TGA	p.R173*	MLL_uc001ptb.2_Nonsense_Mutation_p.R173*|MLL_uc001psz.1_Nonsense_Mutation_p.R206*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	173	A.T hook 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AACTAGTCCTCGAAAACCTCG	0.383		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.004482	0	8	15		Valid		
ZNF202	7753	broad.mit.edu	37	11	123598256	123598256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:123598256C>T	uc001pzd.1	-	8	1280	c.880G>A	c.(880-882)GAG>AAG	p.E294K	ZNF202_uc001pzc.1_Missense_Mutation_p.E70K|ZNF202_uc001pze.1_Missense_Mutation_p.E294K|ZNF202_uc001pzf.1_Missense_Mutation_p.E294K	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	294	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCCAAGGCTCTTCCTCTCTA	0.483		NaN											0	0	0	0.016522	0	22	25				
TP53AIP1	63970	broad.mit.edu	37	11	128805599	128805599	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:128805599G>C	uc001qey.2	-	4	472	c.262C>G	c.(262-264)CTA>GTA	p.L88V	TP53AIP1_uc001qex.2_3'UTR			Q9HCN2	TPIP1_HUMAN	RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;	88					apoptosis	mitochondrion				lung(1)	1						GAGAGACCTAGACCAAGGCCT	0.463		NaN											0	0	0	0.004672	0	3	5				
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:130785628G>A	uc001qgk.3	-	1	755	c.207C>T	c.(205-207)CTC>CTT	p.L69L	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602		NaN											0	0	0	0.004482	0	9	42				
B4GALNT3	283358	broad.mit.edu	37	12	645436	645436	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:645436A>G	uc001qii.1	+	3	326	c.326A>G	c.(325-327)AAC>AGC	p.N109S		NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	109	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGAAGTGGAACAAGCCTGTC	0.448		NaN											0	0	0	0.003163	0	14	84				
KCNA6	3742	broad.mit.edu	37	12	4920654	4920654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:4920654G>A	uc001qng.2	+	1	2313	c.1447G>A	c.(1447-1449)GGG>AGG	p.G483R		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	483						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CGTCACTTGTGGGCAGCCTGC	0.607		NaN								HNSCC(72;0.22)			0	0	0	0.012319	0	21	48				
CD163	9332	broad.mit.edu	37	12	7635263	7635263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:7635263G>A	uc001qsz.3	-	14	3351	c.3223C>T	c.(3223-3225)CGA>TGA	p.R1075*	CD163_uc001qta.3_Nonsense_Mutation_p.R1075*|CD163_uc009zfw.2_Nonsense_Mutation_p.R1108*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1075	Cytoplasmic (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CTCTGTCTTCGCTTTTTAGTC	0.433		NaN											0	0	0	0.01441	0	61	72				
SLC2A3	6515	broad.mit.edu	37	12	8083956	8083956	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:8083956C>A	uc001qtr.2	-	4	657	c.395G>T	c.(394-396)GGA>GTA	p.G132V	SLC2A3_uc001qts.2_Missense_Mutation_p.G132V	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	132	Helical; Name=4; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGTGCAGAGTCCGCAGAAGAG	0.537		NaN											1	0	2.12542e-12	0.00632	2.41649e-12	27	70				
SOX5	6660	broad.mit.edu	37	12	23999076	23999076	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:23999076T>A	uc001rfw.2	-	3	424	c.322A>T	c.(322-324)ACC>TCC	p.T108S	SOX5_uc001rfx.2_Missense_Mutation_p.T95S|SOX5_uc001rfy.2_Missense_Mutation_p.T95S|SOX5_uc010siv.1_Missense_Mutation_p.T95S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.T60S|SOX5_uc001rga.2_Missense_Mutation_p.T73S	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	108					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGAGGTGAGGTAGATGAGTTG	0.468		NaN											0	0	0	0.004656	0	22	59				
C12orf77	196415	broad.mit.edu	37	12	25149238	25149238	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:25149238G>A	uc001rgf.2	-	2	244	c.39C>T	c.(37-39)CTC>CTT	p.L13L		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	13											0						TTATGACTAGGAGGGAAATGT	0.408		NaN											0	0	0	0.00499	0	14	57				
DDX11	1663	broad.mit.edu	37	12	31256902	31256902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:31256902G>A	uc001rjt.1	+	27	3099	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E950K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.E119K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	950					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTGGAGTCCAGAGTGCTGCCA	0.592		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.001168	0	6	6				
SMAGP	57228	broad.mit.edu	37	12	51639758	51639758	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:51639758G>T	uc001ryc.1	-	3	932	c.261C>A	c.(259-261)GCC>GCA	p.A87A	SMAGP_uc001ryd.1_Silent_p.A87A|SMAGP_uc001rye.1_Silent_p.A87A|SMAGP_uc001ryf.1_RNA|DAZAP2_uc010snf.1_Intron	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	small trans-membrane and glycosylated protein	87	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|plasma membrane					0						CGCTGCCCTTGGCCAAGTCAC	0.488		NaN											1	0	3.8784e-16	0.012319	4.49078e-16	22	36				
KRT2	3849	broad.mit.edu	37	12	53040646	53040646	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53040646C>G	uc001sat.2	-	7	1380	c.1347G>C	c.(1345-1347)CTG>CTC	p.L449L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	449	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGCCTGCTGCAGGGCCTCCT	0.587		NaN											0	0	0	0.008291	0	10	78				
CSAD	51380	broad.mit.edu	37	12	53565213	53565213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:53565213G>C	uc001sby.2	-	7	590	c.464C>G	c.(463-465)TCC>TGC	p.S155C	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Missense_Mutation_p.S182C|CSAD_uc001sbz.2_Missense_Mutation_p.S155C|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	155					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATACATGTTGGAGATGGAGCC	0.597		NaN							Hereditary_Prostate_Cancer				0	0	0	0.008291	0	11	29				
ITGA7	3679	broad.mit.edu	37	12	56091544	56091544	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56091544A>G	uc001shh.2	-	9	1576	c.1356T>C	c.(1354-1356)GAT>GAC	p.D452D	ITGA7_uc001shg.2_Silent_p.D448D|ITGA7_uc010sps.1_Silent_p.D355D|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.D335D	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	492	Potential.|FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TCCCATCCATATCCAAGCTGC	0.607		NaN											0	0	0	0.021523	0	24	32				
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:56120509G>A	uc001shm.2	-	4	497	c.401C>T	c.(400-402)TCG>TTG	p.S134L	CD63_uc009znz.2_Missense_Mutation_p.S111L|CD63_uc001shn.2_Missense_Mutation_p.S134L|CD63_uc001sho.2_Missense_Mutation_p.S134L|CD63_uc001shp.2_Missense_Mutation_p.S134L	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	134	Extracellular (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						GTCCAGGATCGAAGCAGTGTG	0.458		NaN											0	0	0	0.007291	0	31	34				
MBD6	114785	broad.mit.edu	37	12	57918588	57918589	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:57918588_57918589CC>TT	uc001soj.1	+	4	423_424	c.199_200CC>TT	c.(199-201)CCA>TTA	p.P67L	MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	67	MBD.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TCTGGAGTGTCCACTTAATGTC	0.545		NaN											0	0	0	0.004672	0	21	52				
AGAP2	116986	broad.mit.edu	37	12	58121176	58121176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:58121176C>T	uc001spq.2	-	17	3047	c.3047G>A	c.(3046-3048)CGA>CAA	p.R1016Q	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1015Q|AGAP2_uc001spr.2_Missense_Mutation_p.R660Q|LOC100130776_uc001sps.3_Missense_Mutation_p.S134L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	1016	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GGCACGGCCTCGCGTGTCGCT	0.667		NaN											0	0	0	0.001984	0	7	11				
TMEM5	10329	broad.mit.edu	37	12	64199128	64199128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:64199128G>A	uc001srq.1	+	5	962	c.858G>A	c.(856-858)ATG>ATA	p.M286I	TMEM5_uc001srr.1_Missense_Mutation_p.M183I|TMEM5_uc001srs.1_Missense_Mutation_p.M26I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	286	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGCACTAATGAACATTTTGA	0.368		NaN											0	0	0	0.01892	0	22	50				
NAP1L1	4673	broad.mit.edu	37	12	76447574	76447574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:76447574C>T	uc001sxw.2	-	9	1158	c.746G>A	c.(745-747)GGA>GAA	p.G249E	NAP1L1_uc001sxv.2_Missense_Mutation_p.G207E|NAP1L1_uc001sxz.2_Missense_Mutation_p.G180E|NAP1L1_uc001sxx.2_Missense_Mutation_p.G249E|NAP1L1_uc001sxy.2_Missense_Mutation_p.G186E|NAP1L1_uc010sty.1_Missense_Mutation_p.G206E|NAP1L1_uc010stz.1_Missense_Mutation_p.G66E|NAP1L1_uc010sua.1_Missense_Mutation_p.G249E|NAP1L1_uc001syb.2_Missense_Mutation_p.G249E|NAP1L1_uc001sya.2_Missense_Mutation_p.G207E|NAP1L1_uc001syc.2_Missense_Mutation_p.G260E	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	249					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				AATTTCTGGTCCATCAAAAGA	0.323		NaN											0	0	0	0.00308	0	8	24				
PPP1R12A	4659	broad.mit.edu	37	12	80328602	80328602	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:80328602T>A	uc001syz.2	-	1	377	c.110A>T	c.(109-111)AAG>ATG	p.K37M	PPP1R12A_uc001sza.2_Missense_Mutation_p.K37M|PPP1R12A_uc010sud.1_Missense_Mutation_p.K37M|PPP1R12A_uc001szb.2_Missense_Mutation_p.K37M|PPP1R12A_uc001szc.2_Missense_Mutation_p.K37M	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	37						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						ATCGTCGAACTTCACCTTGGT	0.637		NaN											0	0	0	0.001168	0	5	3				
TMCC3	57458	broad.mit.edu	37	12	94965478	94965478	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:94965478C>T	uc001tdj.2	-	4	1285	c.1167G>A	c.(1165-1167)AAG>AAA	p.K389K	TMCC3_uc001tdi.2_Silent_p.K358K	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	389	Potential.					integral to membrane				ovary(1)|skin(1)	2						GGAGCTCCAGCTTAGAAATGC	0.547		NaN											0	0	0	0.016522	0	22	58				
CDK17	5128	broad.mit.edu	37	12	96728597	96728597	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr12:96728597T>A	uc001tep.1	-	2	507	c.18A>T	c.(16-18)AGA>AGT	p.R6S	CDK17_uc009ztk.2_Missense_Mutation_p.R6S|CDK17_uc010svb.1_Intron	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	6							ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						GGGATAGCCTTCTCTTAAATT	0.338		NaN											0	0	0	0.001168	0	5	14				
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:23906653G>A	uc001uon.2	-	10	11951	c.11362C>T	c.(11362-11364)CGT>TGT	p.R3788C	SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383		NaN											0	0	0	0.005443	0	28	48				
MTMR6	9107	broad.mit.edu	37	13	25827950	25827950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:25827950T>C	uc001uqf.3	-	11	1617	c.1298A>G	c.(1297-1299)CAG>CGG	p.Q433R	MTMR6_uc001uqe.1_Missense_Mutation_p.Q433R	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	433	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTTTCCAAACTGGCATGAATG	0.408		NaN											0	0	0	0.016522	0	24	48				
KBTBD6	89890	broad.mit.edu	37	13	41706188	41706188	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:41706188C>T	uc001uxu.1	-	1	749	c.460G>A	c.(460-462)GAA>AAA	p.E154K	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E88K|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	154							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGCACATATTCCAGCTGTAGC	0.582		NaN											0	0	0	0.008871	0	17	23				
RNF219	79596	broad.mit.edu	37	13	79190511	79190511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:79190511G>C	uc001vkw.1	-	6	1444	c.1385C>G	c.(1384-1386)CCA>CGA	p.P462R	uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.P272R|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	462	Ser-rich.			P -> T (in Ref. 1; CAB66586).			zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCCTGTCTTTGGGGAAGAAAA	0.333		NaN											0	0	0	0.008291	0	9	17				
GPR18	2841	broad.mit.edu	37	13	99908094	99908094	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:99908094G>C	uc001voe.3	-	3	534	c.33C>G	c.(31-33)GTC>GTG	p.V11V	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.V11V	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	11	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTAAAAGGGACAGGTTGAT	0.323		NaN											0	0	0	0.020292	0	13	37				
OR11H4	390442	broad.mit.edu	37	14	20711591	20711591	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:20711591C>G	uc010tld.1	+	1	641	c.641C>G	c.(640-642)TCC>TGC	p.S214C		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACTCAGAGCTCCCTTGTCCTC	0.443		NaN											0	0	0	0.008871	0	21	159				
ACIN1	22985	broad.mit.edu	37	14	23559767	23559767	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:23559767G>A	uc001wit.3	-	3	782	c.454C>T	c.(454-456)CTG>TTG	p.L152L	ACIN1_uc010akg.2_Silent_p.L152L|ACIN1_uc010tnj.1_Silent_p.L152L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	152	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCACGTTCCAGACGCTGCCTA	0.438		NaN											0	0	0	0.001984	0	7	47				
ARHGAP5	394	broad.mit.edu	37	14	32562941	32562941	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:32562941T>C	uc001wrl.2	+	2	3305	c.3066T>C	c.(3064-3066)CAT>CAC	p.H1022H	ARHGAP5_uc001wrm.2_Silent_p.H1022H|ARHGAP5_uc001wrn.2_Silent_p.H1022H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1022					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCCTATTCATAGTACCCCAA	0.403		NaN											0	0	0	0.003163	0	15	65				
AKAP6	9472	broad.mit.edu	37	14	33291834	33291834	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:33291834C>A	uc001wrq.2	+	13	4985	c.4815C>A	c.(4813-4815)AGC>AGA	p.S1605R		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1605	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTATAAAAGCAATGAAGATC	0.428		NaN											1	0	0.000274275	0.004482	0.000298715	9	37				
SYNE2	23224	broad.mit.edu	37	14	64457735	64457735	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:64457735A>G	uc001xgm.2	+	21	2778	c.2548A>G	c.(2548-2550)ATG>GTG	p.M850V	SYNE2_uc001xgl.2_Missense_Mutation_p.M850V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	850	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGCTGAAGATGGAAGAATC	0.413		NaN											0	0	0	0.011902	0	43	8				
SPTB	6710	broad.mit.edu	37	14	65233430	65233430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:65233430G>A	uc001xht.2	-	31	6413	c.6359C>T	c.(6358-6360)TCT>TTT	p.S2120F	SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.S2120F|SPTB_uc010aqi.2_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2120					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGACAAACGAGACCAGAGACT	0.632		NaN											0	0	0	0.01441	0	126	35				
GTF2A1	2957	broad.mit.edu	37	14	81662522	81662522	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:81662522G>A	uc001xvf.1	-	6	974	c.542C>T	c.(541-543)TCA>TTA	p.S181L	GTF2A1_uc010atb.1_Missense_Mutation_p.S131L|GTF2A1_uc001xvg.1_Missense_Mutation_p.S142L	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	181					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAGAACCACTGACTGCTGAGG	0.423		NaN											0	0	0	0.01441	0	55	21				
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:96949491G>A	uc001yfn.2	+	16	1953	c.1909G>A	c.(1909-1911)GAA>AAA	p.E637K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Potential.|Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGCTGCTGAGGAAGCAGAACG	0.567		NaN											0	0	0	0.003163	0	16	8				
HSP90AA1	3320	broad.mit.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:102550300C>T	uc001yku.3	-	7	1358	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D512N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D211N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D379N	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	390					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363		NaN											0	0	0	0.010504	0	19	10				
XRCC3	7517	broad.mit.edu	37	14	104174929	104174929	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr14:104174929G>A	uc001yny.3	-	5	503	c.123C>T	c.(121-123)CTC>CTT	p.L41L	XRCC3_uc001ynx.3_Silent_p.L41L|XRCC3_uc001ynz.3_Silent_p.L41L|XRCC3_uc001yoa.3_Silent_p.L41L|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	41					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CGGGGCTGGAGAGGTTGGTCA	0.507		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.014323	0	22	8				
HERC2	8924	broad.mit.edu	37	15	28460863	28460863	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:28460863C>T	uc001zbj.2	-	39	6220	c.6114G>A	c.(6112-6114)CAG>CAA	p.Q2038Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2038					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCCGCATACCTGCGGCGTGA	0.627		NaN											0	0	0	0.016522	0	23	24				
APBA2	321	broad.mit.edu	37	15	29393827	29393827	+	Missense_Mutation	SNP	G	G	A	rs142481200		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:29393827G>A	uc001zck.2	+	9	1571	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	455	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CACGCCTTGCGTACCATCTCC	0.552		NaN											0	0	0	0.004482	0	8	15				
DISP2	85455	broad.mit.edu	37	15	40660107	40660107	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:40660107C>T	uc001zlk.1	+	8	1883	c.1794C>T	c.(1792-1794)CTC>CTT	p.L598L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	598	Helical; (Potential).|SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCCGGCCTCACCACGAGCG	0.706		NaN											0	0	0	0.001168	0	6	4				
LCMT2	9836	broad.mit.edu	37	15	43622469	43622469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:43622469C>G	uc001zrg.2	-	1	423	c.219G>C	c.(217-219)CAG>CAC	p.Q73H	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	73					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGCGCCAATCTGCTCCAAAA	0.682		NaN											0	0	0	0.008871	0	19	11				
ODF3L1	161753	broad.mit.edu	37	15	76017546	76017546	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:76017546G>A	uc002bax.1	+	2	438	c.216G>A	c.(214-216)CGG>CGA	p.R72R		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	72											0						TGCATAGCCGGCACTCAGAGA	0.592		NaN											0	0	0	0.014758	0	4	58				
ARNT2	9915	broad.mit.edu	37	15	80845057	80845057	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:80845057A>G	uc002bfr.2	+	10	1197	c.1031A>G	c.(1030-1032)GAT>GGT	p.D344G	ARNT2_uc010unm.1_Missense_Mutation_p.D333G|ARNT2_uc002bfs.2_Missense_Mutation_p.D333G	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	344	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATAACTCCGATGGAATCATC	0.473		NaN											0	0	0	0.013114	0	46	28				
BTBD1	53339	broad.mit.edu	37	15	83710670	83710670	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:83710670G>C	uc002bjn.2	-	4	875	c.672C>G	c.(670-672)CTC>CTG	p.L224L	BTBD1_uc002bjo.2_Silent_p.L224L	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	224						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		AAACTGCACAGAGTGTATCTA	0.368		NaN											0	0	0	0.003163	0	13	12				
RGMA	56963	broad.mit.edu	37	15	93588760	93588760	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:93588760G>T	uc002bss.1	-	4	1093	c.821C>A	c.(820-822)GCC>GAC	p.A274D	RGMA_uc002bsq.1_Missense_Mutation_p.A258D|RGMA_uc010boi.1_Missense_Mutation_p.A165D|RGMA_uc002bsr.1_Missense_Mutation_p.A165D|RGMA_uc010urc.1_Missense_Mutation_p.A282D	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	274					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GATGTACTTGGCCTGGATCTC	0.617		NaN											1	0	3.1745e-13	0.008361	3.63744e-13	27	9				
FAM169B	283777	broad.mit.edu	37	15	98995120	98995120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr15:98995120C>T	uc002buk.1	-	5	554	c.304G>A	c.(304-306)GAG>AAG	p.E102K		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	102											0						GGGAATGTCTCACAGAAGTCC	0.572		NaN											0	0	0	0.020292	0	14	5				
NLRC3	197358	broad.mit.edu	37	16	3613416	3613416	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:3613416C>G	uc010btn.2	-	5	1933	c.1522G>C	c.(1522-1524)GGG>CGG	p.G508R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	508					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TCCAGCCTCCCGTCCTCTGCC	0.667		NaN											0	0	0	0.004672	0	3	0				
ZNF267	10308	broad.mit.edu	37	16	31927008	31927008	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:31927008A>T	uc002ecs.3	+	4	1647	c.1438A>T	c.(1438-1440)ATT>TTT	p.I480F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	480	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TTCAAATCTTATTATGCATCA	0.363		NaN											0	0	0	0.008291	0	11	56				
ABCC12	94160	broad.mit.edu	37	16	48130786	48130786	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:48130786G>A	uc002efc.1	-	22	3412	c.3066C>T	c.(3064-3066)CTC>CTT	p.L1022L	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1022	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CAAACCACCTGAGAGCACAGT	0.463		NaN											0	0	0	0.005443	0	24	40				
CDH16	1014	broad.mit.edu	37	16	66946442	66946442	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:66946442T>A	uc002eql.2	-	11	1397	c.1324A>T	c.(1324-1326)ATC>TTC	p.I442F	CDH16_uc010cdy.2_Missense_Mutation_p.I442F|CDH16_uc002eqm.2_Missense_Mutation_p.I345F	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGATCATTGATATCTGTGACT	0.597		NaN											0	0	0	0.016723	0	12	47				
ESRP2	80004	broad.mit.edu	37	16	68269814	68269814	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:68269814C>G	uc010cfa.1	-	1	323	c.135G>C	c.(133-135)CTG>CTC	p.L45L	ESRP2_uc002evq.1_Silent_p.L45L	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	45					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						CGTCCGAGCCCAGGTCCCGTC	0.502		NaN											0	0	0	0.008291	0	10	11				
MTSS1L	92154	broad.mit.edu	37	16	70698173	70698173	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:70698173T>C	uc002ezj.2	-	15	1911	c.1651A>G	c.(1651-1653)ACT>GCT	p.T551A		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	551					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGCAGGCCAGTGGCCGTGGGC	0.746		NaN											0	0	0	0.004482	0	9	23				
CMIP	80790	broad.mit.edu	37	16	81712175	81712175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:81712175G>C	uc002fgp.2	+	10	1402	c.1330G>C	c.(1330-1332)GAG>CAG	p.E444Q	CMIP_uc002fgq.1_Missense_Mutation_p.E350Q|CMIP_uc010vnq.1_Missense_Mutation_p.E257Q|CMIP_uc002fgr.1_Missense_Mutation_p.E291Q	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	410						cytoplasm|nucleus					0						CATGAGCATCGAGCTGGGCCC	0.562		NaN											0	0	0	0.008291	0	8	9				
ZDHHC7	55625	broad.mit.edu	37	16	85011581	85011581	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:85011581G>C	uc002fiq.2	-	6	921	c.568C>G	c.(568-570)CTG>GTG	p.L190V	ZDHHC7_uc010voi.1_Missense_Mutation_p.L227V|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	190	Helical; (Potential).					integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						CAAAGGATCAGAGCATGGACT	0.378		NaN											0	0	0	0.01441	0	45	41				
TCF25	22980	broad.mit.edu	37	16	89958628	89958628	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:89958628C>T	uc002fpb.2	+	6	724	c.642C>T	c.(640-642)CCC>CCT	p.P214P	TCF25_uc002fpc.2_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	214					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTGTGTACCCCAAGTGCACAT	0.617		NaN											0	0	0	0.001168	0	4	21				
ZNF594	84622	broad.mit.edu	37	17	5086957	5086957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5086957C>G	uc010cla.1	-	2	751	c.595G>C	c.(595-597)GTG>CTG	p.V199L		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	199	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTATGTCTCACCAGATTGGAG	0.393		NaN											0	0	0	0.00623	0	38	87				
ZNF594	84622	broad.mit.edu	37	17	5087090	5087090	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5087090T>G	uc010cla.1	-	2	618	c.462A>C	c.(460-462)CCA>CCC	p.P154P		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TACACACATATGGCTTATTTC	0.303		NaN											0	0	0	0.016522	0	22	55				
DHX33	56919	broad.mit.edu	37	17	5371895	5371895	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:5371895G>A	uc002gca.2	-	1	287	c.285C>T	c.(283-285)CTC>CTT	p.L95L	DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.L95L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	95	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						ACTCACCGATGAGGACCGCGT	0.612		NaN											0	0	0	0.001168	0	5	16				
DLG4	1742	broad.mit.edu	37	17	7121570	7121570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7121570G>C	uc002get.3	-	3	1350	c.149C>G	c.(148-150)TCA>TGA	p.S50*	DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Nonsense_Mutation_p.S50*|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						CTGACTCTCTGAGAGGGAAGC	0.552		NaN											0	0	0	0.016723	0	9	13				
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCCACAGCTGCACAGGGCAG	0.597		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013726	0	32	39		Valid		
MYH3	4621	broad.mit.edu	37	17	10545784	10545784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:10545784G>C	uc002gmq.1	-	15	1915	c.1838C>G	c.(1837-1839)TCT>TGT	p.S613C		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	613	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTGTTGGAAGACTTCTGGTA	0.542		NaN											0	0	0	0.01441	0	48	22				
TMEM132E	124842	broad.mit.edu	37	17	32964390	32964390	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:32964390C>T	uc002hif.2	+	10	2422	c.2094C>T	c.(2092-2094)ACC>ACT	p.T698T		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	698	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGAGCTAACCATCGCTGAGA	0.642		NaN											0	0	0	0.00308	0	7	47				
DUSP14	11072	broad.mit.edu	37	17	35872428	35872428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:35872428G>A	uc002hnx.2	+	3	348	c.54G>A	c.(52-54)ATG>ATA	p.M18I	DUSP14_uc002hny.2_Missense_Mutation_p.M5I|DUSP14_uc002hnz.2_Missense_Mutation_p.M5I	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	18							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				CCCCTCGGATGATTTCCGAGG	0.577		NaN											0	0	0	0.01441	0	51	31				
ERBB2	2064	broad.mit.edu	37	17	37879903	37879903	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37879903C>T	uc002hso.2	+	18	2436	c.2198C>T	c.(2197-2199)ACA>ATA	p.T733I	ERBB2_uc002hsm.2_Missense_Mutation_p.T703I|ERBB2_uc010cwa.2_Missense_Mutation_p.T718I|ERBB2_uc002hsp.2_Missense_Mutation_p.T536I|ERBB2_uc010cwb.2_Missense_Mutation_p.T733I|ERBB2_uc010wek.1_Missense_Mutation_p.T457I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	733	Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T733I(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTTTTGGCACAGTCTACAAG	0.637		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.01441	0	103	7		Valid		
IKZF3	22806	broad.mit.edu	37	17	37947792	37947792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:37947792G>A	uc002hsu.2	-	5	531	c.469C>T	c.(469-471)CAG>TAG	p.Q157*	IKZF3_uc002htd.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Nonsense_Mutation_p.Q123*|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Nonsense_Mutation_p.Q157*|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Nonsense_Mutation_p.Q70*|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	157	C2H2-type 2.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTACCTTTCTGAGTAAAAGAT	0.448		NaN											0	0	0	0.01441	0	809	81				
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	T	C	rs80322614		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:39274205T>C	uc002hvz.2	-	1	402	c.363A>G	c.(361-363)AGA>AGG	p.R121R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.095		NaN											0	0	0	0.004482	0	3	11				
STH	246744	broad.mit.edu	37	17	44076789	44076789	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:44076789C>T	uc002ijy.2	+	1	174	c.144C>T	c.(142-144)CTC>CTT	p.L48L	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	48						cytoplasm|nucleus					0						ACAGAACCCTCAGCTTAGCAT	0.418		NaN											0	0	0	0.004482	0	9	38				
ITGA3	3675	broad.mit.edu	37	17	48153806	48153806	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48153806C>T	uc010dbl.2	+	13	2255	c.1791C>T	c.(1789-1791)CTC>CTT	p.L597L	ITGA3_uc010dbm.2_Silent_p.L597L	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	597	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						ACCCGATCCTCAACCAGGCAC	0.647		NaN											0	0	0	0.010818	0	32	160				
SAMD14	201191	broad.mit.edu	37	17	48190393	48190393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48190393G>A	uc002iqg.2	-	10	1417	c.1118C>T	c.(1117-1119)TCT>TTT	p.S373F	SAMD14_uc002iqd.2_Missense_Mutation_p.S156F|SAMD14_uc002iqe.2_Missense_Mutation_p.S156F|SAMD14_uc002iqf.2_Missense_Mutation_p.S401F	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	373	SAM.										0						CCGGTCATGAGAGTTGCTGAG	0.657		NaN											0	0	0	0.001984	0	6	33				
CHAD	1101	broad.mit.edu	37	17	48545626	48545626	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:48545626C>T	uc010dbr.2	-	1	602	c.549G>A	c.(547-549)TTG>TTA	p.L183L	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.L183L|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	183	LRR 5.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGGGAGCTCAACGCGTTTT	0.622		NaN											0	0	0	0.016723	0	12	114				
AXIN2	8313	broad.mit.edu	37	17	63533517	63533517	+	Missense_Mutation	SNP	C	C	T	rs145717795	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:63533517C>T	uc002jfi.2	-	6	1926	c.1637G>A	c.(1636-1638)GGC>GAC	p.G546D	AXIN2_uc002jfh.2_Missense_Mutation_p.G546D	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	546					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						ATACTCGCTGCCCCCAGGGCA	0.612		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				0	0	0	0.006214	0	10	110				
CBX4	8535	broad.mit.edu	37	17	77808682	77808682	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr17:77808682G>C	uc002jxe.2	-	5	922	c.759C>G	c.(757-759)GTC>GTG	p.V253V		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	253	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTGTTCTTGACTATCTTCA	0.577		NaN									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	130	164				
LPIN2	9663	broad.mit.edu	37	18	2954522	2954522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:2954522C>T	uc002klo.2	-	3	507	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	90	N-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCAGTCTCCTCAACAAAGAAA	0.453		NaN											0	0	0	0.007413	0	18	23				
ABHD3	171586	broad.mit.edu	37	18	19231568	19231568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19231568C>A	uc002ktl.2	-	9	1354	c.1214G>T	c.(1213-1215)GGA>GTA	p.G405V	ABHD3_uc002ktm.2_Missense_Mutation_p.G352V|ABHD3_uc002ktk.2_Missense_Mutation_p.G210V	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	405						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						GAGTTCATGTCCATGCTCAAC	0.423		NaN											1	0	7.41606e-26	0.01441	8.65534e-26	58	46				
MIB1	57534	broad.mit.edu	37	18	19359586	19359586	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:19359586G>C	uc002ktq.2	+	6	848	c.848G>C	c.(847-849)GGA>GCA	p.G283A	MIB1_uc002ktp.2_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	283					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			ACTACAACTGGAACTGTTTGT	0.388		NaN											0	0	0	0.01441	0	75	88				
C18orf34	374864	broad.mit.edu	37	18	30903591	30903591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:30903591C>T	uc002kxn.2	-	10	1028	c.886G>A	c.(886-888)GAC>AAC	p.D296N	C18orf34_uc010xbr.1_Missense_Mutation_p.D296N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D296N|C18orf34_uc002kxp.2_Missense_Mutation_p.D296N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	296	Potential.									ovary(1)	1						CTGTGTAGGTCCATTACCTAG	0.294		NaN											0	0	0	0.009096	0	4	2				
MALT1	10892	broad.mit.edu	37	18	56348424	56348424	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr18:56348424T>C	uc002lhm.1	+	2	490	c.232T>C	c.(232-234)TCT>CCT	p.S78P	MALT1_uc002lhn.1_Missense_Mutation_p.S78P	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	78	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						GGAGCAGTGTTCTCTTAAGGT	0.463		NaN	T	BIRC3	MALT								0	0	0	0.010771	0	36	21				
ATP8B3	148229	broad.mit.edu	37	19	1796870	1796870	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:1796870G>C	uc002ltw.2	-	16	1827	c.1593C>G	c.(1591-1593)CCC>CCG	p.P531P	ATP8B3_uc002ltv.2_Silent_p.P484P|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	531	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGAGGTAGGGGTTCTCCT	0.716		NaN											0	0	0	0.004672	0	3	22				
STAP2	55620	broad.mit.edu	37	19	4338736	4338736	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:4338736C>T	uc002mab.2	-	1	112	c.15G>A	c.(13-15)CTG>CTA	p.L5L	STAP2_uc002mac.2_Silent_p.L5L|STAP2_uc002mad.2_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	5						cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTGGCCTCAGGGCAGAGG	0.627		NaN											0	0	0	0.010729	0	9	26				
VAV1	7409	broad.mit.edu	37	19	6836572	6836572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:6836572G>A	uc002mfu.1	+	20	2004	c.1907G>A	c.(1906-1908)TGG>TAG	p.W636*	VAV1_uc010xjh.1_Nonsense_Mutation_p.W604*|VAV1_uc010dva.1_Nonsense_Mutation_p.W636*|VAV1_uc002mfv.1_Nonsense_Mutation_p.W581*	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	636	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						GAACAGAACTGGTGGGAGGTA	0.567		NaN											0	0	0	0.00308	0	7	24				
ANGPTL4	51129	broad.mit.edu	37	19	8431173	8431173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431173G>A	uc002mjq.1	+	3	712	c.517G>A	c.(517-519)GAC>AAC	p.D173N	ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173N|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6N	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CCAGCCAGTTGACCCGGCTCA	0.637		NaN											0	0	0	0.008871	0	18	32				
ANGPTL4	51129	broad.mit.edu	37	19	8431175	8431175	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:8431175C>A	uc002mjq.1	+	3	714	c.519C>A	c.(517-519)GAC>GAA	p.D173E	ANGPTL4_uc002mjr.1_Missense_Mutation_p.D173E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.D6E	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	173					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						AGCCAGTTGACCCGGCTCACA	0.632		NaN											1	0	1.33834e-09	0.007413	1.5138e-09	18	32				
MUC16	94025	broad.mit.edu	37	19	9076683	9076683	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:9076683G>T	uc002mkp.2	-	3	10967	c.10763C>A	c.(10762-10764)GCA>GAA	p.A3588E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3589	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAATCTGATGCAGCTGTGGA	0.493		NaN											1	0	0.00116845	0.001168	0.00126318	6	76				
MYO9B	4650	broad.mit.edu	37	19	17321180	17321180	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:17321180G>A	uc010eak.2	+	37	5939	c.5787G>A	c.(5785-5787)GAG>GAA	p.E1929E	MYO9B_uc002nfi.2_Silent_p.E1929E|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfm.1_Silent_p.E89E	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1929	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CTCCCTATGAGGGGGTCCTGG	0.627		NaN											0	0	0	0.00308	0	8	6				
KCNN1	3780	broad.mit.edu	37	19	18092569	18092569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18092569G>A	uc002nht.2	+	5	860	c.550G>A	c.(550-552)GAG>AAG	p.E184K	KCNN1_uc010xqa.1_Missense_Mutation_p.E184K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	184	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						CATGACCTGCGAGCGCGTGTT	0.662		NaN											0	0	0	0.004007	0	16	20				
KIAA1683	80726	broad.mit.edu	37	19	18377736	18377736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:18377736G>A	uc002nin.2	-	3	830	c.614C>T	c.(613-615)CCC>CTC	p.P205L	KIAA1683_uc010ebn.2_Missense_Mutation_p.P205L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P159L	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	205						mitochondrion				ovary(2)	2						GGACGACTGGGGTCTGCAGAG	0.642		NaN											0	0	0	0.004482	0	9	29				
ZNF99	7652	broad.mit.edu	37	19	22941314	22941314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:22941314G>A	uc010xrh.1	-	5	1124	c.1124C>T	c.(1123-1125)TCA>TTA	p.S375L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGCTGAAAAATTGCT	0.358		NaN											0	0	0	0.00308	0	8	27				
GPI	2821	broad.mit.edu	37	19	34884959	34884959	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:34884959G>T	uc002nvg.1	+	12	1153	c.1050G>T	c.(1048-1050)GCG>GCT	p.A350A	GPI_uc002nvf.2_Silent_p.A389A|GPI_uc010xrv.1_Silent_p.A361A|GPI_uc010xrw.1_Silent_p.A322A|GPI_uc010edl.1_Silent_p.A350A|GPI_uc002nvi.1_Silent_p.A13A	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	350					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GCTTTGCTGCGTACTTCCAGC	0.582		NaN											1	0	0.00185496	0.016723	0.00200044	13	30				
GRAMD1A	57655	broad.mit.edu	37	19	35505212	35505212	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:35505212C>T	uc010xse.1	+	10	1127	c.990C>T	c.(988-990)ACC>ACT	p.T330T	GRAMD1A_uc002nxi.1_Silent_p.T417T|GRAMD1A_uc002nxk.2_Silent_p.T323T|GRAMD1A_uc002nxl.2_Silent_p.T96T|GRAMD1A_uc010xsf.1_Silent_p.T335T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	330						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCCACCACCCTGGGCCCCT	0.637		NaN											0	0	0	0.006999	0	32	63				
UPK1A	11045	broad.mit.edu	37	19	36157752	36157752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36157752C>T	uc002oaw.2	+	1	38	c.38C>T	c.(37-39)TCT>TTT	p.S13F	UPK1A_uc010eeh.2_Missense_Mutation_p.S13F	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	13	Cytoplasmic (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAAGGGATCTCCAGTTGTG	0.622		NaN											0	0	0	0.016522	0	24	52				
ZFP14	57677	broad.mit.edu	37	19	36832186	36832186	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:36832186A>C	uc002odx.1	-	4	635	c.542T>G	c.(541-543)TTT>TGT	p.F181C	ZFP14_uc010xtd.1_Missense_Mutation_p.F182C|ZFP14_uc010eex.1_Missense_Mutation_p.F181C	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	181	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					GCGACGAATAAAGGTCTTCCT	0.403		NaN											0	0	0	0.01892	0	24	52				
ZNF571	51276	broad.mit.edu	37	19	38055989	38055989	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38055989A>G	uc002ogt.2	-	4	1442	c.1341T>C	c.(1339-1341)TTT>TTC	p.F447F	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.F447F	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	447	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACATTCAAAGGGTTTCT	0.388		NaN											0	0	0	0.001984	0	6	203				
YIF1B	90522	broad.mit.edu	37	19	38800271	38800271	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:38800271C>A	uc002ohz.2	-	2	120	c.71G>T	c.(70-72)AGG>ATG	p.R24M	YIF1B_uc002ohw.2_Translation_Start_Site|YIF1B_uc002ohx.2_Missense_Mutation_p.R9M|YIF1B_uc010xtx.1_Missense_Mutation_p.R7M|YIF1B_uc010xty.1_Translation_Start_Site|YIF1B_uc002oia.2_Missense_Mutation_p.R21M|YIF1B_uc002ohy.2_Missense_Mutation_p.R21M|YIF1B_uc002oib.2_Missense_Mutation_p.R21M	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	24	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CACAGGGATCCTCCGCTTCGA	0.632		NaN											1	0	0.000157383	0.00308	0.000171833	5	82				
ITPKC	80271	broad.mit.edu	37	19	41223370	41223370	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:41223370G>A	uc002oot.2	+	1	363	c.330G>A	c.(328-330)AAG>AAA	p.K110K	ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	110						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGGCCCAAGCAAAAGACGG	0.622		NaN											0	0	0	0.00499	0	18	43				
ARHGEF1	9138	broad.mit.edu	37	19	42410644	42410644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:42410644G>A	uc002orx.2	+	27	2636	c.2527G>A	c.(2527-2529)GAA>AAA	p.E843K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E810K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E681K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E858K|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.E502K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E287K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	843					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCGGCGGAGGAAGACAATGG	0.677		NaN											0	0	0	0.01892	0	22	38				
PHLDB3	653583	broad.mit.edu	37	19	44008260	44008260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44008260C>T	uc002own.3	-	2	270	c.11G>A	c.(10-12)CGA>CAA	p.R4Q	PHLDB3_uc002owo.2_Missense_Mutation_p.R4Q	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	4											0		Prostate(69;0.0153)				GGGGCTGCTTCGCGTCCCCAT	0.756		NaN											0	0	0	0.020292	0	14	6				
ZNF45	7596	broad.mit.edu	37	19	44418655	44418655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:44418655C>G	uc002oxu.1	-	4	1032	c.933G>C	c.(931-933)AAG>AAC	p.K311N	ZNF45_uc002oxw.1_Missense_Mutation_p.K311N|ZNF45_uc002oxv.1_Missense_Mutation_p.K311N	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	311	C2H2-type 6.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AACTGAAGCTCTTCCCACACT	0.468		NaN											0	0	0	0.003163	0	16	47				
ERCC2	2068	broad.mit.edu	37	19	45867774	45867774	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:45867774T>C	uc002pbj.2	-	8	673	c.626A>G	c.(625-627)TAC>TGC	p.Y209C	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.Y131C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y185C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y185C|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	209	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAGGTAGTGGTAGCTATAAAC	0.632		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.020292	0	14	39		Valid		
LMTK3	114783	broad.mit.edu	37	19	49005723	49005723	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49005723A>G	uc002pjk.2	-	8	848	c.848T>C	c.(847-849)CTG>CCG	p.L283P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGGTGCGCCAGCCCGCGGGC	0.711		NaN											0	0	0	0.010729	0	11	70				
PTH2	113091	broad.mit.edu	37	19	49925885	49925885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:49925885C>T	uc002pnn.1	-	2	245	c.143G>A	c.(142-144)GGA>GAA	p.G48E		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	parathyroid hormone 2 preproprotein	48					neuropeptide signaling pathway	extracellular region					0				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CCAGGCCCGTCCTGGGGGGCG	0.756		NaN											0	0	0	0.014758	0	5	6				
FUZ	80199	broad.mit.edu	37	19	50311871	50311871	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50311871C>T	uc002ppq.1	-	9	1023	c.918G>A	c.(916-918)CTG>CTA	p.L306L	FUZ_uc002ppr.1_Silent_p.L206L|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.L270L|FUZ_uc002ppv.1_Silent_p.L256L	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	306	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GGCAGCGCTTCAGTTCCAGGT	0.657		NaN											0	0	0	0.020292	0	13	13				
FUZ	80199	broad.mit.edu	37	19	50312751	50312751	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr19:50312751C>T	uc002ppq.1	-	6	679	c.574G>A	c.(574-576)GAG>AAG	p.E192K	FUZ_uc002ppr.1_Missense_Mutation_p.E92K|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.E156K|FUZ_uc002ppv.1_Missense_Mutation_p.E142K	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	192					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCAACCCTCTGTTGCTGCC	0.721		NaN											0	0	0	0.009096	0	4	11				
ITSN2	50618	broad.mit.edu	37	2	24535188	24535188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:24535188G>A	uc002rfe.2	-	5	503	c.245C>T	c.(244-246)GCT>GTT	p.A82V	ITSN2_uc002rff.2_Missense_Mutation_p.A82V|ITSN2_uc002rfg.2_Missense_Mutation_p.A82V|ITSN2_uc010eyd.2_Missense_Mutation_p.A82V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	82	EH 1.|EF-hand 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTCATAGCTATGGAGAA	0.443		NaN											0	0	0	0.00874	0	40	58				
ZNF513	130557	broad.mit.edu	37	2	27603386	27603386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:27603386C>T	uc002rkk.2	-	1	208	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	ZNF513_uc002rkj.2_5'Flank	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	3					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTCCTTCGGGGCATCGT	0.697		NaN											0	0	0	0.006214	0	7	8				
BIRC6	57448	broad.mit.edu	37	2	32738106	32738107	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:32738106_32738107GG>AT	uc010ezu.2	+	54	10587_10588	c.10453_10454GG>AT	c.(10453-10455)GGT>ATT	p.G3485I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3485					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTAGAGTATGGTCTTCTGATG	0.455		NaN											0	0	0	0.004672	0	10	81				
MAP4K3	8491	broad.mit.edu	37	2	39499674	39499674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:39499674G>A	uc002rro.2	-	25	1895	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	MAP4K3_uc002rrp.2_Nonsense_Mutation_p.R581*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.R155*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	602	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				GTACACCTTCGAGGGAATAGC	0.294		NaN											0	0	0	0.005524	0	32	72				
SPRED2	200734	broad.mit.edu	37	2	65543912	65543912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:65543912G>A	uc002sdr.3	-	5	1079	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	SPRED2_uc010fcw.2_Missense_Mutation_p.H179Y	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	182					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCGTGGAGGTGGCCCAGGGTA	0.537		NaN											0	0	0	0.004482	0	9	25				
SLC4A5	57835	broad.mit.edu	37	2	74531720	74531720	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74531720T>G	uc002sko.1	-	2	169	c.167A>C	c.(166-168)AAA>ACA	p.K56T	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K56T|SLC4A5_uc010ffc.1_Missense_Mutation_p.K56T|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Missense_Mutation_p.K56T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	56	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CCAGTGGACTTTTTGCAGGCC	0.572		NaN											0	0	0	0.012213	0	32	182				
DQX1	165545	broad.mit.edu	37	2	74752218	74752218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:74752218C>T	uc010yrw.1	-	3	514	c.349G>A	c.(349-351)GAT>AAT	p.D117N	DQX1_uc002smc.2_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	117	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						TCCATCTCATCAGCAACCCGC	0.622		NaN											0	0	0	0.013726	0	33	179				
REG1B	5968	broad.mit.edu	37	2	79312628	79312628	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:79312628A>C	uc002sny.2	-	5	535	c.423T>G	c.(421-423)ACT>ACG	p.T141T		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	141	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						CTGAGCATGAAGTCAGGCTTG	0.547		NaN											0	0	0	0.021022	0	37	81				
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:80646672G>A	uc010ysh.1	+	8	1241	c.1236G>A	c.(1234-1236)AAG>AAA	p.K412K	CTNNA2_uc010yse.1_Silent_p.K412K|CTNNA2_uc010ysf.1_Silent_p.K412K|CTNNA2_uc010ysg.1_Silent_p.K412K|CTNNA2_uc010ysi.1_Silent_p.K44K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	412					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAAATGAAAAGGAAGTGAAAG	0.453		NaN											0	0	0	0.01892	0	24	64				
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:96259801G>C	uc002suv.2	+	2	166	c.30G>C	c.(28-30)CAG>CAC	p.Q10H		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	tripartite motif-containing 43	10						intracellular	zinc ion binding			ovary(1)	1						ATGCCTTCCAGAAGGAACTCA	0.483		NaN											0	0	0	0.01441	0	108	99				
SULT1C4	27233	broad.mit.edu	37	2	108999925	108999925	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:108999925A>G	uc002tea.1	+	5	947	c.574A>G	c.(574-576)AAA>GAA	p.K192E	SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K117E	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						AGCCAAAGACAAACACCGTAT	0.463		NaN											0	0	0	0.01441	0	48	28				
LIMS1	3987	broad.mit.edu	37	2	109292446	109292446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:109292446C>G	uc002teg.2	+	6	726	c.607C>G	c.(607-609)CGC>GGC	p.R203G	LIMS1_uc002tef.2_Missense_Mutation_p.R215G|LIMS1_uc002teh.2_Missense_Mutation_p.R203G|LIMS1_uc002tei.2_Missense_Mutation_p.R203G|LIMS1_uc002tej.2_Missense_Mutation_p.R240G|LIMS1_uc002tek.3_Missense_Mutation_p.R265G	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						CATCGAAGGGCGCGTGGTGAA	0.542		NaN											0	0	0	0.007835	0	43	26				
ACTR3	10096	broad.mit.edu	37	2	114713209	114713209	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:114713209A>G	uc002tkx.1	+	11	1407	c.1087A>G	c.(1087-1089)ATT>GTT	p.I363V	ACTR3_uc010yyc.1_Missense_Mutation_p.I301V|ACTR3_uc010yyd.1_Missense_Mutation_p.I312V	NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	363					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			skin(1)	1						GCCAAAACCTATTGATGTACA	0.343		NaN											0	0	0	0.001984	0	7	60				
CNTNAP5	129684	broad.mit.edu	37	2	125175130	125175130	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:125175130G>C	uc002tno.2	+	4	856	c.492G>C	c.(490-492)AAG>AAC	p.K164N	CNTNAP5_uc010flu.2_Missense_Mutation_p.K164N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	164	F5/8 type C.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGTGGGAAGATTGGCATGA	0.498		NaN											0	0	0	0.008291	0	10	9				
RIF1	55183	broad.mit.edu	37	2	152317679	152317679	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:152317679G>T	uc002txm.2	+	27	3233	c.3103G>T	c.(3103-3105)GTA>TTA	p.V1035L	RIF1_uc002txl.2_Missense_Mutation_p.V1035L|RIF1_uc002txn.2_Missense_Mutation_p.V1035L|RIF1_uc002txo.2_Missense_Mutation_p.V1035L|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1035					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTCTTTAAAAGTAAAGGGTGA	0.318		NaN											1	0	6.31663e-08	0.003163	7.0541e-08	14	47				
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:158272436G>A	uc002tzj.1	-	8	905	c.833C>T	c.(832-834)ACG>ATG	p.T278M	CYTIP_uc010zcl.1_Missense_Mutation_p.T172M	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						ATCTGTACTCGTCTGCCGACT	0.542		NaN											0	0	0	0.007413	0	20	50				
DCAF17	80067	broad.mit.edu	37	2	172305301	172305301	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:172305301A>G	uc002ugx.2	+	4	661	c.432A>G	c.(430-432)ATA>ATG	p.I144M	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.I144M|DCAF17_uc010zdr.1_RNA	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	144						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						TTGAGAAAATATATCTTGCAC	0.333		NaN											0	0	0	0.012319	0	20	39				
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:176947052C>T	uc010zeu.1	-	2	739	c.553G>A	c.(553-555)GCG>ACG	p.A185T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721		NaN											0	0	0	0.004672	0	3	11				
TTN	7273	broad.mit.edu	37	2	179433786	179433786	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179433786A>G	uc010zfg.1	-	275	69593	c.69369T>C	c.(69367-69369)GAT>GAC	p.D23123D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D16818D|TTN_uc010zfi.1_Silent_p.D16751D|TTN_uc010zfj.1_Silent_p.D16626D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24050							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAATTGGATCAGCAGTCT	0.438		NaN											0	0	0	0.013726	0	34	79				
TTN	7273	broad.mit.edu	37	2	179475984	179475984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179475984C>T	uc010zfg.1	-	219	43392	c.43168G>A	c.(43168-43170)GAC>AAC	p.D14390N	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8085N|TTN_uc010zfi.1_Missense_Mutation_p.D8018N|TTN_uc010zfj.1_Missense_Mutation_p.D7893N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15317							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCCAGGTCAATTGTTGGC	0.353		NaN											0	0	0	0.020292	0	14	14				
CCDC141	285025	broad.mit.edu	37	2	179742771	179742771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:179742771C>T	uc002unf.1	-	2	151	c.94G>A	c.(94-96)GAG>AAG	p.E32K	CCDC141_uc002ung.2_Missense_Mutation_p.E607K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	32							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CACTGCTTCTCAGCCGAGTCA	0.378		NaN											0	0	0	0.01892	0	26	35				
ITGA4	3676	broad.mit.edu	37	2	182347105	182347105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:182347105G>A	uc002unu.2	+	8	1622	c.859G>A	c.(859-861)GAT>AAT	p.D287N	ITGA4_uc010zfl.1_Missense_Mutation_p.D287N	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	287	FG-GAP 4.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATTCAGCATTGATGAAAAAGA	0.308		NaN											0	0	0	0.003163	0	15	35				
CALCRL	10203	broad.mit.edu	37	2	188245285	188245285	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:188245285T>C	uc002upv.3	-	7	865	c.317A>G	c.(316-318)GAC>GGC	p.D106G	CALCRL_uc010frt.2_Missense_Mutation_p.D106G	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	106	Extracellular (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCCATCTTGGTCACAGATCTT	0.328		NaN											0	0	0	0.015359	0	35	86				
DNAH7	56171	broad.mit.edu	37	2	196729415	196729415	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196729415G>T	uc002utj.3	-	41	7065	c.6964C>A	c.(6964-6966)CAC>AAC	p.H2322N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2322	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CTGCTGATGTGCTCTATGGCA	0.448		NaN											1	0	3.59834e-05	0.001168	3.97806e-05	5	60				
DNAH7	56171	broad.mit.edu	37	2	196877531	196877531	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:196877531G>A	uc002utj.3	-	10	1070	c.969C>T	c.(967-969)GCC>GCT	p.A323A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	323	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GAGTCTCTTTGGCAGAGTCCA	0.323		NaN											0	0	0	0.006214	0	8	55				
NIF3L1	60491	broad.mit.edu	37	2	201757014	201757014	+	Silent	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:201757014T>A	uc002uwm.2	+	2	439	c.348T>A	c.(346-348)GCT>GCA	p.A116A	NIF3L1_uc002uwl.2_Silent_p.A89A|NIF3L1_uc002uwn.2_Silent_p.A89A|NIF3L1_uc002uwo.2_Silent_p.A116A|NIF3L1_uc002uwp.2_Silent_p.A116A|NIF3L1_uc002uwq.2_Silent_p.A116A	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	116					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TGATCCGGGCTCTGGAGAACA	0.547		NaN											0	0	0	0.009535	0	30	53				
IHH	3549	broad.mit.edu	37	2	219920154	219920154	+	Silent	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:219920154T>G	uc002vjo.1	-	3	1011	c.1011A>C	c.(1009-1011)ACA>ACC	p.T337T		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	337					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCACCAGTGTCCCATGCT	0.662		NaN											0	0	0	0.021523	0	23	28				
ABCB6	10058	broad.mit.edu	37	2	220075494	220075494	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:220075494T>C	uc002vkc.1	-	16	2472	c.2195A>G	c.(2194-2196)AAG>AGG	p.K732R	ABCB6_uc010fwe.1_Missense_Mutation_p.K686R	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	732	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCGCTGCTTCTCCCCGCC	0.622		NaN											0	0	0	0.008291	0	8	28				
UGT1A9	54600	broad.mit.edu	37	2	234580786	234580786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:234580786C>A	uc002vus.2	+	1	243	c.206C>A	c.(205-207)TCA>TAA	p.S69*	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Nonsense_Mutation_p.S69*	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	69					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	CTGGGAAGATCACTGAATTGC	0.498		NaN											1	0	1.36491e-13	0.016723	1.56804e-13	14	91				
COL6A3	1293	broad.mit.edu	37	2	238283323	238283323	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:238283323G>A	uc002vwl.2	-	8	3696	c.3411C>T	c.(3409-3411)ATC>ATT	p.I1137I	COL6A3_uc002vwo.2_Silent_p.I931I|COL6A3_uc010znj.1_Silent_p.I530I|COL6A3_uc002vwq.2_Silent_p.I931I|COL6A3_uc002vwr.2_Silent_p.I730I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1137	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGTGAGGACGATCAGCAGCT	0.637		NaN											0	0	0	0.009535	0	26	43				
CDC25B	994	broad.mit.edu	37	20	3781635	3781635	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:3781635G>A	uc002wjn.2	+	7	1378	c.600G>A	c.(598-600)AAG>AAA	p.K200K	CDC25B_uc010zqk.1_Silent_p.K136K|CDC25B_uc010zql.1_Silent_p.K122K|CDC25B_uc010zqm.1_Silent_p.K136K|CDC25B_uc002wjl.2_Silent_p.K88K|CDC25B_uc002wjm.2_Silent_p.K88K|CDC25B_uc002wjo.2_Silent_p.K186K|CDC25B_uc002wjp.2_Silent_p.K159K|CDC25B_uc002wjq.2_5'UTR|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	200					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						TTGTCTTCAAGATGCCATGGA	0.637		NaN											0	0	0	0.013537	0	13	24				
THBD	7056	broad.mit.edu	37	20	23029241	23029241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:23029241C>T	uc002wss.2	-	1	1061	c.901G>A	c.(901-903)GAC>AAC	p.D301N	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.D242N	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	301	EGF-like 2.|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCCGGCTGGTCGGGGTTGGGA	0.697		NaN											0	0	0	0.013537	0	13	17				
PHF20	51230	broad.mit.edu	37	20	34487428	34487428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:34487428G>A	uc002xek.1	+	10	1530	c.1419G>A	c.(1417-1419)ATG>ATA	p.M473I	PHF20_uc002xei.1_Missense_Mutation_p.M473I|PHF20_uc010gfo.1_Missense_Mutation_p.M473I|PHF20_uc002xej.1_Missense_Mutation_p.M357I	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	473	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					ACTATCACATGAAGTATTTCC	0.478		NaN											0	0	0	0.013537	0	11	29				
ZHX3	23051	broad.mit.edu	37	20	39832302	39832302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:39832302C>T	uc002xjs.1	-	3	1633	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.E419K|ZHX3_uc002xjt.1_Missense_Mutation_p.E419K|ZHX3_uc002xju.1_Missense_Mutation_p.E419K|ZHX3_uc002xjv.1_Missense_Mutation_p.E419K|ZHX3_uc002xjw.1_Missense_Mutation_p.E419K|ZHX3_uc010ggg.1_Missense_Mutation_p.E419K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	419	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CCTGTACCCTCTGGCTGCCCC	0.582		NaN											0	0	0	0.007291	0	29	35				
CYP24A1	1591	broad.mit.edu	37	20	52774035	52774035	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:52774035C>T	uc002xwv.2	-	10	1724	c.1326G>A	c.(1324-1326)CAG>CAA	p.Q442Q	CYP24A1_uc002xwu.1_Silent_p.Q300Q|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	442					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTCCTTCTCCTGAAGCCAAC	0.428		NaN											0	0	0	0.006214	0	10	40				
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr20:58450426C>G	uc002yaz.2	-	33	3388	c.3249G>C	c.(3247-3249)TGG>TGC	p.W1083C		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368		NaN											0	0	0	0.010729	0	12	15				
DOPEY2	9980	broad.mit.edu	37	21	37603050	37603050	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:37603050C>T	uc002yvg.2	+	14	2047	c.1968C>T	c.(1966-1968)TCC>TCT	p.S656S	DOPEY2_uc011aeb.1_Silent_p.S656S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	656					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AAAGCAAGTCCGAGGAGCCTG	0.542		NaN											0	0	0	0.006999	0	41	46				
HMGN1	3150	broad.mit.edu	37	21	40720485	40720485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:40720485C>G	uc002yxo.2	-	2	238	c.34G>C	c.(34-36)GCC>CCC	p.A12P	HMGN1_uc002yxp.2_5'UTR|HMGN1_uc002yxq.2_5'UTR|HMGN1_uc002yxr.2_RNA	NM_004965	NP_004956	P05114	HMGN1_HUMAN	high-mobility group nucleosome binding domain 1	12					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(1)	1		Prostate(19;8.69e-07)				TCCTTGGCGGCGCCTTCGGCG	0.677		NaN											0	0	0	0.001984	0	7	30				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:44524456G>A	uc002zda.1	-	2	185	c.101C>T	c.(100-102)TCT>TTT	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	34	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						GTGCAACCGAGAGCACCTGTC	0.358		NaN											0	0	0	0.004482	0	8	14				
TRAPPC10	7109	broad.mit.edu	37	21	45507706	45507706	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45507706C>G	uc002zea.2	+	17	2835	c.2666C>G	c.(2665-2667)CCA>CGA	p.P889R	TRAPPC10_uc010gpo.2_Missense_Mutation_p.P600R|TRAPPC10_uc011afa.1_Missense_Mutation_p.P267R|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	889					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CCTTCAGCCCCAGCACTCGGA	0.552		NaN											0	0	0	0.017118	0	37	58				
TRAPPC10	7109	broad.mit.edu	37	21	45518410	45518410	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr21:45518410A>T	uc002zea.2	+	21	3510	c.3341A>T	c.(3340-3342)TAT>TTT	p.Y1114F	TRAPPC10_uc010gpo.2_Missense_Mutation_p.Y825F|TRAPPC10_uc011afa.1_Missense_Mutation_p.Y492F|TRAPPC10_uc011afb.1_Missense_Mutation_p.Y219F	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1114					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						AAGCTTATGTATGAAGGTAGG	0.249		NaN											0	0	0	0.005524	0	38	56				
UFD1L	7353	broad.mit.edu	37	22	19462610	19462610	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19462610G>A	uc002zpm.2	-	3	280	c.150C>T	c.(148-150)CCC>CCT	p.P50P	UFD1L_uc002zpo.2_Silent_p.P50P|UFD1L_uc011agy.1_Silent_p.P50P|UFD1L_uc002zpp.2_Silent_p.P3P|UFD1L_uc010grq.2_Silent_p.P3P|uc002zpq.1_5'Flank	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	50					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					CCAGGGCCGAGGGTGGCATAA	0.373		NaN											0	0	0	0.015359	0	31	55				
ARVCF	421	broad.mit.edu	37	22	19965031	19965031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:19965031G>A	uc002zqz.2	-	9	2048	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	ARVCF_uc002zqy.2_Nonsense_Mutation_p.Q115*	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	593	ARM 6.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TCGGCCTCCTGGTACCTGTCG	0.662		NaN											0	0	0	0.01441	0	58	89				
JOSD1	9929	broad.mit.edu	37	22	39095872	39095872	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:39095872G>T	uc003awf.2	-	1	588	c.121C>A	c.(121-123)CTC>ATC	p.L41I		NM_014876	NP_055691	Q15040	JOS1_HUMAN	Josephin domain containing 1	41	Josephin.						peptidase activity				0	Melanoma(58;0.04)					ACGTTATTGAGGGCGTGGAGG	0.537		NaN											1	0	0.000602214	0.014758	0.000654258	5	195				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41565529G>T	uc003azl.3	+	26	4590	c.4195G>T	c.(4195-4197)GAT>TAT	p.D1399Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1399				D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399Y(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATCTTACCTCGATAGTGTTCA	0.338		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.08312e-15	0.009535	1.25085e-15	30	55		Valid		
L3MBTL2	83746	broad.mit.edu	37	22	41615486	41615486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:41615486G>A	uc003azo.2	+	6	718	c.664G>A	c.(664-666)GAT>AAT	p.D222N	L3MBTL2_uc010gyi.1_Missense_Mutation_p.D131N|L3MBTL2_uc003azn.2_RNA|uc003azp.1_5'Flank	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	222	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						GCTCAACAGTGATGCTGTGCT	0.572		NaN											0	0	0	0.009718	0	39	53				
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr22:42172208C>G	uc003baz.1	+	21	2672	c.2647C>G	c.(2647-2649)CGA>GGA	p.R883G	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.R269G|MEI1_uc003bbc.1_Missense_Mutation_p.R251G|MEI1_uc010gym.1_Missense_Mutation_p.R251G|MEI1_uc003bbd.1_Missense_Mutation_p.R126G|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	883							binding			central_nervous_system(1)|skin(1)	2						CGGTCTTATCCGAGGCCACTT	0.562		NaN											0	0	0	0.00874	0	41	63				
ITPR1	3708	broad.mit.edu	37	3	4709127	4709127	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:4709127A>T	uc003bqa.2	+	18	2128	c.1780A>T	c.(1780-1782)ACT>TCT	p.T594S	ITPR1_uc010hca.1_Missense_Mutation_p.T579S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.T579S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	594	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCTGAAGACACTATCACTGC	0.458		NaN											0	0	0	0.007835	0	43	15				
NUP210	23225	broad.mit.edu	37	3	13363766	13363766	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:13363766C>T	uc003bxv.1	-	35	4925	c.4842G>A	c.(4840-4842)CAG>CAA	p.Q1614Q		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1614	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CCGGCTTGAACTGGGACTGGC	0.557		NaN											0	0	0	0.01441	0	153	99				
NEK10	152110	broad.mit.edu	37	3	27326126	27326126	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:27326126T>C	uc003cdt.1	-	23	2255	c.1981A>G	c.(1981-1983)ATT>GTT	p.I661V	NEK10_uc003cds.1_Missense_Mutation_p.I58V	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	661	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CCCAACATAATGTTGTTTGGT	0.328		NaN											0	0	0	0.013114	0	39	55				
TRANK1	9881	broad.mit.edu	37	3	36898029	36898029	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:36898029T>C	uc003cgj.2	-	3	1704	c.1402A>G	c.(1402-1404)ATC>GTC	p.I468V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1018					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTGAGGTCGATCACCGCGTAC	0.537		NaN											0	0	0	0.01441	0	97	89				
XYLB	9942	broad.mit.edu	37	3	38442474	38442474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:38442474C>A	uc003cic.2	+	18	1640	c.1531C>A	c.(1531-1533)CAG>AAG	p.Q511K	XYLB_uc011ayp.1_Missense_Mutation_p.Q374K|XYLB_uc003cid.1_Missense_Mutation_p.Q433K	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	511					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGAGCTTCTCAGGTGAGAGA	0.493		NaN											1	0	6.70999e-13	0.019004	7.66855e-13	37	54				
ANO10	55129	broad.mit.edu	37	3	43408465	43408465	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:43408465T>G	uc003cmv.2	-	13	2087	c.1916A>C	c.(1915-1917)CAA>CCA	p.Q639P	ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.Q573P|ANO10_uc010hil.2_Missense_Mutation_p.Q449P|ANO10_uc011azt.1_Missense_Mutation_p.Q528P	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	639	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GAGCTTCATTTGCTGTTAAGA	0.577		NaN											0	0	0	0.014758	0	4	13				
SETD2	29072	broad.mit.edu	37	3	47162291	47162291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:47162291C>T	uc003cqs.2	-	3	3888	c.3835G>A	c.(3835-3837)GGA>AGA	p.G1279R	SETD2_uc003cqv.2_Missense_Mutation_p.G1268R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACAAGCTCCATAGCTACTG	0.473		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.004656	0	24	50		Valid		
PLXNB1	5364	broad.mit.edu	37	3	48463746	48463746	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:48463746C>T	uc003csw.2	-	5	1683	c.1413G>A	c.(1411-1413)CAG>CAA	p.Q471Q	PLXNB1_uc003csu.2_Silent_p.Q471Q|PLXNB1_uc003csx.2_Silent_p.Q471Q|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	471	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACTGTGCTCTGGGTCATGA	0.597		NaN											0	0	0	0.001168	0	5	17				
BSN	8927	broad.mit.edu	37	3	49694316	49694316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:49694316G>A	uc003cxe.3	+	5	7441	c.7327G>A	c.(7327-7329)GAA>AAA	p.E2443K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2443	Potential.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTGCAGCGGGAACAGCTAGC	0.358		NaN											0	0	0	0.00308	0	8	5				
ZMYND10	51364	broad.mit.edu	37	3	50379288	50379288	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:50379288C>T	uc003dag.1	-	10	1220	c.1074G>A	c.(1072-1074)CAG>CAA	p.Q358Q	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.Q353Q|ZMYND10_uc003dah.1_Silent_p.Q279Q	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	358						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAACACATGCTGGAGCTGGT	0.597		NaN								TSP Lung(30;0.18)			0	0	0	0.017118	0	36	32				
DNAH1	25981	broad.mit.edu	37	3	52404221	52404221	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:52404221C>T	uc011bef.1	+	39	6495	c.6234C>T	c.(6232-6234)TTC>TTT	p.F2078F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2078					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACTGCTTCTTCAAGCCCT	0.572		NaN											0	0	0	0.020292	0	14	27				
C3orf63	23272	broad.mit.edu	37	3	56659005	56659005	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:56659005G>C	uc003did.3	-	21	4087	c.3986C>G	c.(3985-3987)ACG>AGG	p.T1329R	C3orf63_uc003dib.3_Missense_Mutation_p.T448R|C3orf63_uc003dic.3_Missense_Mutation_p.T953R|C3orf63_uc003die.3_Missense_Mutation_p.T1390R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1390										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ATTCAGAAGCGTCAACAGACT	0.348		NaN											0	0	0	0.00308	0	6	60				
DNASE1L3	1776	broad.mit.edu	37	3	58178462	58178462	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:58178462G>A	uc003djo.1	-	8	967	c.870C>T	c.(868-870)AGC>AGT	p.S290S	DNASE1L3_uc011bfd.1_Silent_p.S260S|DNASE1L3_uc003djp.1_Silent_p.S290S|DNASE1L3_uc003djq.1_3'UTR	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	290					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CAGATTTTTTGCTGTTGGTGA	0.423		NaN											0	0	0	0.008361	0	30	82				
CRYBG3	131544	broad.mit.edu	37	3	97661173	97661173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:97661173G>A	uc003drx.2	+	18	2930	c.2866G>A	c.(2866-2868)GGA>AGA	p.G956R	CRYBG3_uc010hoz.1_RNA|MINA_uc003dry.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsa.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GGACACACCTGGAGCTAAAGT	0.413		NaN											0	0	0	0.008871	0	20	48				
FAM55C	91775	broad.mit.edu	37	3	101540311	101540311	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:101540311A>G	uc003dvn.2	+	8	1830	c.1193A>G	c.(1192-1194)AAG>AGG	p.K398R	FAM55C_uc010hpn.2_Missense_Mutation_p.K398R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	398						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GTGGACCAGAAGCACAACATC	0.468		NaN											0	0	0	0.010729	0	12	24				
DZIP3	9666	broad.mit.edu	37	3	108343354	108343354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:108343354G>A	uc003dxd.2	+	6	861	c.439G>A	c.(439-441)GAA>AAA	p.E147K	DZIP3_uc003dxf.1_Missense_Mutation_p.E147K|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.E147K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	147					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGCACTCACTGAAAGAGGAAA	0.279		NaN											0	0	0	0.013537	0	12	33				
GOLGB1	2804	broad.mit.edu	37	3	121413222	121413222	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:121413222G>A	uc003eei.3	-	13	6259	c.6133C>T	c.(6133-6135)CTA>TTA	p.L2045L	GOLGB1_uc010hrc.2_Silent_p.L2050L|GOLGB1_uc003eej.3_Silent_p.L2011L|GOLGB1_uc011bjm.1_Silent_p.L1931L|GOLGB1_uc010hrd.1_Silent_p.L2009L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2045	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ACAAATTCTAGAGCTTTAACA	0.373		NaN											0	0	0	0.01441	0	56	24				
PDIA5	10954	broad.mit.edu	37	3	122865069	122865069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:122865069C>T	uc003egc.1	+	13	1161	c.1105C>T	c.(1105-1107)CTC>TTC	p.L369F	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	369	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AGTGCCTGTGCTCAGGACAAA	0.483		NaN											0	0	0	0.013537	0	12	75				
SLCO2A1	6578	broad.mit.edu	37	3	133667440	133667440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:133667440G>A	uc003eqa.3	-	8	1319	c.1045C>T	c.(1045-1047)CTC>TTC	p.L349F	SLCO2A1_uc003eqb.3_Missense_Mutation_p.L273F|SLCO2A1_uc011blv.1_Missense_Mutation_p.L168F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	349	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AACTTGTTGAGGAAGGTGGAG	0.572		NaN											0	0	0	0.009096	0	4	169				
AADAC	13	broad.mit.edu	37	3	151545957	151545957	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:151545957A>G	uc003eze.2	+	5	1287	c.1197A>G	c.(1195-1197)CTA>CTG	p.L399L		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	399	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGGAAAATCTATAGTAAAACA	0.299		NaN											0	0	0	0.014323	0	24	12				
SCHIP1	29970	broad.mit.edu	37	3	159482390	159482390	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:159482390G>A	uc003fcs.1	+	2	288	c.222G>A	c.(220-222)CTG>CTA	p.L74L	SCHIP1_uc003fcq.1_Silent_p.L150L|SCHIP1_uc003fcr.1_Silent_p.L63L|SCHIP1_uc003fct.1_Silent_p.L74L|SCHIP1_uc010hvz.1_Silent_p.L47L	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	74						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGTCTGCCCTGGAGGACTATG	0.493		NaN											0	0	0	0.001984	0	6	4				
NLGN1	22871	broad.mit.edu	37	3	173996714	173996714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:173996714A>T	uc003fio.1	+	6	1346	c.923A>T	c.(922-924)CAA>CTA	p.Q308L	NLGN1_uc010hww.1_Missense_Mutation_p.Q348L|NLGN1_uc003fip.1_Missense_Mutation_p.Q308L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	325	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTAGTTTTCAACCTGCAAAA	0.388		NaN											0	0	0	0.013537	0	11	23				
EIF4G1	1981	broad.mit.edu	37	3	184040229	184040229	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr3:184040229C>T	uc003fnp.2	+	11	1797	c.1599C>T	c.(1597-1599)GCC>GCT	p.A533A	EIF4G1_uc003fno.1_Silent_p.A474A|EIF4G1_uc010hxw.1_Silent_p.A369A|EIF4G1_uc003fnt.2_Silent_p.A244A|EIF4G1_uc003fnq.2_Silent_p.A446A|EIF4G1_uc003fnr.2_Silent_p.A369A|EIF4G1_uc010hxx.2_Silent_p.A540A|EIF4G1_uc003fns.2_Silent_p.A493A|EIF4G1_uc010hxy.2_Silent_p.A540A|EIF4G1_uc003fnv.3_Silent_p.A533A|EIF4G1_uc003fnu.3_Silent_p.A533A|EIF4G1_uc003fnw.2_Silent_p.A540A|EIF4G1_uc003fnx.2_Silent_p.A337A|EIF4G1_uc003fny.3_Silent_p.A337A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	533					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTGGATGCCTTCAAGGAGG	0.438		NaN											0	0	0	0.006214	0	8	21				
ZNF721	170960	broad.mit.edu	37	4	436514	436514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:436514C>G	uc003gag.2	-	3	2433	c.1742G>C	c.(1741-1743)GGA>GCA	p.G581A	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G613A|ZNF721_uc010ibe.2_Missense_Mutation_p.G569A	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	581						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGGTTTCTCTCCAGTATGAAT	0.398		NaN											0	0	0	0.00632	0	27	123				
ADD1	118	broad.mit.edu	37	4	2927796	2927796	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:2927796G>T	uc003gfr.2	+	14	2006	c.1818G>T	c.(1816-1818)GCG>GCT	p.A606A	ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.A637A|ADD1_uc003gfp.2_Silent_p.A606A|ADD1_uc003gfq.2_Silent_p.A637A|ADD1_uc003gfs.2_Silent_p.A637A	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	606				A -> E (in Ref. 2; AAB05645).	actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCAGCCTGCGGTCCCCCACC	0.622		NaN											1	0	6.40141e-05	0.010729	7.02399e-05	10	45				
TADA2B	93624	broad.mit.edu	37	4	7045505	7045505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:7045505G>A	uc003gjw.3	+	1	350	c.199G>A	c.(199-201)GAG>AAG	p.E67K	CCDC96_uc003gjv.2_5'Flank|TADA2B_uc010idi.2_Intron	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	67	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GCCCGAGGCCGAGGGCGGCTG	0.736		NaN											0	0	0	0.014758	0	4	18				
TLR10	81793	broad.mit.edu	37	4	38776079	38776079	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776079A>T	uc003gti.2	-	2	1512	c.1133T>A	c.(1132-1134)ATT>AAT	p.I378N	TLR10_uc003gtj.2_Missense_Mutation_p.I378N|TLR10_uc003gtk.2_Missense_Mutation_p.I378N	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	378	Extracellular (Potential).|LRR 10.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GCCATTCAAAATGAGAGTTTT	0.328		NaN											0	0	0	0.016522	0	24	37				
TLR10	81793	broad.mit.edu	37	4	38776209	38776209	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:38776209T>G	uc003gti.2	-	2	1382	c.1003A>C	c.(1003-1005)AAT>CAT	p.N335H	TLR10_uc003gtj.2_Missense_Mutation_p.N335H|TLR10_uc003gtk.2_Missense_Mutation_p.N335H	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	335	LRR 8.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATTTGTGCATTTGATATTGTC	0.308		NaN											0	0	0	0.012319	0	22	20				
N4BP2	55728	broad.mit.edu	37	4	40146392	40146392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:40146392G>C	uc003guy.3	+	16	5453	c.5115G>C	c.(5113-5115)TTG>TTC	p.L1705F	N4BP2_uc010ifq.2_Missense_Mutation_p.L1625F|N4BP2_uc010ifr.2_Missense_Mutation_p.L1608F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1705	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TAGAACATTTGATGAGAGTTT	0.393		NaN											0	0	0	0.008291	0	10	27				
GUF1	60558	broad.mit.edu	37	4	44693709	44693709	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:44693709G>A	uc003gww.3	+	13	1713	c.1506G>A	c.(1504-1506)ATG>ATA	p.M502I		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	502					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						AGAAGAATATGATATTTATTG	0.313		NaN											0	0	0	0.021523	0	26	43				
TEC	7006	broad.mit.edu	37	4	48140938	48140938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:48140938G>A	uc003gxz.2	-	16	1728	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	546	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						CCAGACATCTGATTTGCTGCT	0.443		NaN											0	0	0	0.006122	0	17	21				
SCFD2	152579	broad.mit.edu	37	4	54231440	54231440	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54231440G>A	uc003gzu.2	-	1	803	c.669C>T	c.(667-669)CTC>CTT	p.L223L	SCFD2_uc010igm.2_Silent_p.L223L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	223					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAGAGAACTGAGGCCTGACA	0.547		NaN											0	0	0	0.004482	0	9	31				
GSX2	170825	broad.mit.edu	37	4	54967810	54967810	+	Silent	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:54967810G>T	uc010igp.1	+	2	900	c.636G>T	c.(634-636)ACG>ACT	p.T212T	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	212	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCACTAGCACGCAACTCCTGG	0.572		NaN											1	0	2.12542e-12	0.00632	2.41649e-12	29	34				
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:70361469C>T	uc003hek.3	-	1	158	c.111G>A	c.(109-111)ATG>ATA	p.M37I	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.M37I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	37					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						TCTTTATATTCATCCAGTGGC	0.468		NaN											0	0	0	0.021022	0	36	71				
DCK	1633	broad.mit.edu	37	4	71863897	71863897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:71863897G>A	uc003hfx.2	+	2	493	c.205G>A	c.(205-207)GAG>AAG	p.E69K	DCK_uc011cbb.1_5'UTR	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	69					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AGATGAATTTGAGGTATGAAA	0.318		NaN											0	0	0	0.014323	0	21	28				
BMP2K	55589	broad.mit.edu	37	4	79833000	79833000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:79833000C>A	uc003hlk.2	+	16	3465	c.3299C>A	c.(3298-3300)CCA>CAA	p.P1100Q	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1100						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						ACTGTCCTGCCAGGGCGGCCA	0.522		NaN											1	0	1.22384e-17	0.013726	1.42081e-17	35	50				
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:100237199G>A	uc003hus.3	-	5	507	c.423C>T	c.(421-423)TTC>TTT	p.F141F	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.F101F|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.F101F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	141					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGTGCCAAGGAAGTGGTGAA	0.577		NaN											0	0	0	0.01892	0	26	46				
C4orf29	80167	broad.mit.edu	37	4	128930328	128930328	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:128930328T>A	uc003ifr.2	+	6	742	c.424T>A	c.(424-426)TTG>ATG	p.L142M	C4orf29_uc003ifq.1_RNA|C4orf29_uc003ifs.2_Missense_Mutation_p.L15M|C4orf29_uc003ift.2_5'Flank|C4orf29_uc003ifu.2_5'Flank|C4orf29_uc010inz.2_5'Flank|C4orf29_uc003ifv.2_5'Flank	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	hypothetical protein LOC80167 precursor	142						extracellular region				ovary(1)	1						GGCTTCTTTATTGTTAGAAAA	0.333		NaN											0	0	0	0.004482	0	7	11				
USP38	84640	broad.mit.edu	37	4	144135055	144135055	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:144135055T>G	uc003ijb.2	+	9	2460	c.1926T>G	c.(1924-1926)GAT>GAG	p.D642E	USP38_uc003ija.3_Missense_Mutation_p.D642E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GTATACAAGATGGTGGTCTAA	0.438		NaN											0	0	0	0.01441	0	56	124				
TMEM154	201799	broad.mit.edu	37	4	153573937	153573937	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:153573937C>A	uc003imw.1	-	2	313	c.207G>T	c.(205-207)CCG>CCT	p.P69P		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor	69	Extracellular (Potential).					integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATTTTCATCCGGAGCAAAGT	0.333		NaN											1	0	7.03913e-09	0.013537	7.90106e-09	10	34				
FAM198B	51313	broad.mit.edu	37	4	159092463	159092463	+	Missense_Mutation	SNP	C	C	T	rs148186776		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:159092463C>T	uc003ipp.3	-	2	517	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22Q|FAM198B_uc003ipr.3_Missense_Mutation_p.R22Q|FAM198B_uc003ips.2_Missense_Mutation_p.R22Q|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	22	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						CTTACGCACCCGCGGGACGCA	0.587		NaN											0	0	0	0.003163	0	12	39				
SH3RF1	57630	broad.mit.edu	37	4	170028077	170028077	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028077G>A	uc003isa.1	-	11	2754	c.2419C>T	c.(2419-2421)CCC>TCC	p.P807S		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	807						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGCGATGGGAACTGCGGAG	0.587		NaN											0	0	0	0.007291	0	30	45				
SH3RF1	57630	broad.mit.edu	37	4	170028181	170028181	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr4:170028181G>T	uc003isa.1	-	11	2650	c.2315C>A	c.(2314-2316)TCC>TAC	p.S772Y		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	772						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACAGGGCAGGAGCCTGCCCT	0.662		NaN											1	0	2.17888e-05	0.006214	2.41488e-05	7	21				
SDHA	6389	broad.mit.edu	37	5	235398	235398	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:235398G>C	uc003jao.3	+	9	1319	c.1204G>C	c.(1204-1206)GTC>CTC	p.V402L	SDHA_uc003jan.2_Missense_Mutation_p.V402L|SDHA_uc011clv.1_Missense_Mutation_p.V402L|SDHA_uc011clw.1_Missense_Mutation_p.V354L|SDHA_uc003jap.3_Missense_Mutation_p.V402L|SDHA_uc003jaq.3_Missense_Mutation_p.V177L|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	402					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCGATCCCTGTCCTCCCCAC	0.617		NaN							Familial_Paragangliomas				0	0	0	0.012319	0	18	60				
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:7861273G>C	uc003jeb.2	-	6	2010	c.1873C>G	c.(1873-1875)CAA>GAA	p.Q625E	FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TGAACAACTTGATAACCGAGT	0.323		NaN											0	0	0	0.010504	0	21	48				
SEMA5A	9037	broad.mit.edu	37	5	9063097	9063097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:9063097C>T	uc003jek.2	-	18	3132	c.2420G>A	c.(2419-2421)CGG>CAG	p.R807Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	807	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AACACGCTTCCGGTTCCGAAT	0.592		NaN											0	0	0	0.004482	0	8	39				
PRDM9	56979	broad.mit.edu	37	5	23526685	23526685	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:23526685A>C	uc003jgo.2	+	11	1670	c.1488A>C	c.(1486-1488)GAA>GAC	p.E496D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	496					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TAATGGAAGAAGAGTCCAGAA	0.448		NaN								HNSCC(3;0.000094)			0	0	0	0.001168	0	6	35				
PTGER4	5734	broad.mit.edu	37	5	40681893	40681893	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:40681893C>G	uc003jlz.2	+	2	1390	c.798C>G	c.(796-798)GCC>GCG	p.A266A		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	266	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TCGCGGGCGCCGAGATCCAGA	0.706		NaN											0	0	0	0.001168	0	6	125				
ISL1	3670	broad.mit.edu	37	5	50687238	50687238	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:50687238T>C	uc003jor.2	+	5	1444	c.896T>C	c.(895-897)TTG>TCG	p.L299S		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	299	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACTTCGCCTTGCAGAGTGAC	0.517		NaN											0	0	0	0.009718	0	36	80				
VCAN	1462	broad.mit.edu	37	5	82817219	82817219	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:82817219C>G	uc003kii.3	+	7	3450	c.3094C>G	c.(3094-3096)CAG>GAG	p.Q1032E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.Q1032E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1032	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGGAACAACTCAGGAAGAATT	0.453		NaN											0	0	0	0.004672	0	2	16				
WDR36	134430	broad.mit.edu	37	5	110445967	110445967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:110445967C>T	uc003kpd.2	+	13	1691	c.1574C>T	c.(1573-1575)TCT>TTT	p.S525F	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	525	WD 6.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACATGCAGTCTGGCATACAT	0.358		NaN											0	0	0	0.008361	0	29	16				
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916656	114916656	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:114916656G>C	uc003krd.2	-	4	1304	c.298C>G	c.(298-300)CTA>GTA	p.L100V	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.L269V|TICAM2_uc003krc.2_Missense_Mutation_p.L100V	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	100	TIR.				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						TCATCTTGTAGCAGATTCTGG	0.418		NaN											0	0	0	0.014323	0	20	128				
FBN2	2201	broad.mit.edu	37	5	127693083	127693083	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:127693083T>C	uc003kuu.2	-	20	2998	c.2559A>G	c.(2557-2559)ATA>ATG	p.I853M	FBN2_uc003kuv.2_Missense_Mutation_p.I820M	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	853	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACATTCATTTATATCTACAA	0.423		NaN											0	0	0	0.007291	0	29	7				
SLC27A6	28965	broad.mit.edu	37	5	128324319	128324319	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:128324319C>G	uc003kuy.2	+	4	1108	c.712C>G	c.(712-714)CAG>GAG	p.Q238E	SLC27A6_uc003kuz.2_Missense_Mutation_p.Q238E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	238					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATTAGTCAGCTGCAGGT	0.328		NaN											0	0	0	0.01441	0	53	29				
AFF4	27125	broad.mit.edu	37	5	132223670	132223670	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:132223670T>C	uc003kyd.2	-	16	3209	c.2801A>G	c.(2800-2802)GAT>GGT	p.D934G	AFF4_uc011cxk.1_Missense_Mutation_p.D612G	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	934					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAACCTATCAGACTGAAG	0.348		NaN											0	0	0	0.010504	0	20	11				
ZNF300	91975	broad.mit.edu	37	5	150275116	150275116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:150275116G>A	uc003lsy.1	-	6	1952	c.1685C>T	c.(1684-1686)TCA>TTA	p.S562L	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	562	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAAGGTCTGACTTCTGAGA	0.458		NaN											0	0	0	0.015359	0	34	15				
F12	2161	broad.mit.edu	37	5	176830946	176830946	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176830946G>A	uc003mgo.3	-	10	1213	c.1164C>T	c.(1162-1164)GCC>GCT	p.A388A	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	388	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTACAGCGCGGCGATGTAGG	0.716		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	6				
F12	2161	broad.mit.edu	37	5	176831565	176831565	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:176831565G>A	uc003mgo.3	-	8	784	c.735C>T	c.(733-735)GCC>GCT	p.A245A	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	245	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGTAGGTGGCCTCCGAGG	0.726		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	4				
MAPK9	5601	broad.mit.edu	37	5	179696343	179696343	+	Missense_Mutation	SNP	G	G	T	rs148710250	by1000genomes	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr5:179696343G>T	uc003mls.3	-	3	460	c.189C>A	c.(187-189)AAC>AAA	p.N63K	MAPK9_uc003mlt.3_Missense_Mutation_p.N63K|MAPK9_uc010jlc.2_Missense_Mutation_p.N63K|MAPK9_uc003mlv.3_Missense_Mutation_p.N63K|MAPK9_uc011dgx.1_Missense_Mutation_p.N63K	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	63	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGAGTTTGGTTCTGAAAAG	0.348		NaN											1	0	3.90053e-15	0.012213	4.49275e-15	34	5				
PRPF4B	8899	broad.mit.edu	37	6	4059021	4059021	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:4059021C>T	uc003mvv.2	+	14	2884	c.2793C>T	c.(2791-2793)TAC>TAT	p.Y931Y	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	931	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACTTCATGTACATAGAAGTTG	0.313		NaN											0	0	0	0.00308	0	8	37				
RREB1	6239	broad.mit.edu	37	6	7211055	7211055	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:7211055G>A	uc003mxc.2	+	7	834	c.444G>A	c.(442-444)GAG>GAA	p.E148E	RREB1_uc010jnw.2_Silent_p.E148E|RREB1_uc003mxb.2_Silent_p.E148E|RREB1_uc010jnx.2_Silent_p.E148E|RREB1_uc003mxd.2_Silent_p.E148E	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	148					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGATCCATGAGAAGGACCCTA	0.423		NaN											0	0	0	0.00632	0	30	70				
PRL	5617	broad.mit.edu	37	6	22297250	22297250	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:22297250G>C	uc003ndp.2	-	1	481	c.-38C>G	c.(-40--36)ATCTT>ATGTT		PRL_uc003ndo.2_Translation_Start_Site|PRL_uc003ndq.2_Translation_Start_Site|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor						cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					CACCAGAGAAGATCTGGAAGT	0.408		NaN											0	0	0	0.004007	0	16	29				
GPLD1	2822	broad.mit.edu	37	6	24433445	24433445	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24433445G>A	uc003ned.1	-	24	2517	c.2406C>T	c.(2404-2406)AGC>AGT	p.S802S		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	802	FG-GAP 7.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TGATGAGGGAGCTCCCAAACC	0.453		NaN											0	0	0	0.00499	0	17	163				
GPLD1	2822	broad.mit.edu	37	6	24454389	24454389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:24454389C>T	uc003ned.1	-	14	1300	c.1189G>A	c.(1189-1191)GAC>AAC	p.D397N	GPLD1_uc010jpr.1_Missense_Mutation_p.D234N|GPLD1_uc010jps.1_Missense_Mutation_p.D397N	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	397	FG-GAP 1.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						ACCACGAGGTCACCGTGCCCA	0.612		NaN											0	0	0	0.008871	0	20	30				
HIST1H2BI	8346	broad.mit.edu	37	6	26273432	26273432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:26273432G>A	uc003nhk.2	+	1	229	c.229G>A	c.(229-231)GAG>AAG	p.E77K	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CATTGCAGGCGAGGCTTCCCG	0.587		NaN											0	0	0	0.010818	0	32	111				
ZFP57	346171	broad.mit.edu	37	6	29641397	29641397	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:29641397C>A	uc011dlw.1	-	4	642	c.491G>T	c.(490-492)CGG>CTG	p.R164L	ZFP57_uc003nnl.3_Missense_Mutation_p.R144L	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	80	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTGAAGCACCCGGGTCCTGTC	0.572		NaN											1	0	5.50884e-06	0.013537	6.12093e-06	13	187				
BAT5	7920	broad.mit.edu	37	6	31668761	31668761	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:31668761C>G	uc003nvy.1	-	4	331	c.301G>C	c.(301-303)GGG>CGG	p.G101R	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.G68R|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	101	Helical; (Potential).					integral to membrane	hydrolase activity|protein binding				0						AGCAATGTCCCAGCATAGTGA	0.507		NaN											0	0	0	0.013537	0	11	60				
FKBP5	2289	broad.mit.edu	37	6	35588041	35588041	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:35588041G>C	uc011dte.1	-	4	464	c.261C>G	c.(259-261)ATC>ATG	p.I87M	FKBP5_uc003okx.2_Missense_Mutation_p.I87M|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.I87M|FKBP5_uc003okz.2_Missense_Mutation_p.I87M	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	87	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						CCCATGCCTTGATGACTTGGC	0.403		NaN											0	0	0	0.009718	0	40	41				
CCND3	896	broad.mit.edu	37	6	41908297	41908297	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:41908297C>G	uc003orn.2	-	2	390	c.225G>C	c.(223-225)GAG>GAC	p.E75D	CCND3_uc003orp.2_5'UTR|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_5'UTR|CCND3_uc003orm.2_Missense_Mutation_p.E25D|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	75	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAAGACTTCCTCCTCACAGC	0.647		NaN	T	IGH@	MM								0	0	0	0.005524	0	37	38		Valid		
KLHDC3	116138	broad.mit.edu	37	6	42985893	42985893	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:42985893T>G	uc003otl.2	+	5	627	c.458T>G	c.(457-459)TTT>TGT	p.F153C	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Intron|KLHDC3_uc003otn.2_Missense_Mutation_p.F37C|KLHDC3_uc003oto.2_Missense_Mutation_p.F94C	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	153	Kelch 3.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGACTGTTTTTCCAATGAC	0.473		NaN											0	0	0	0.01441	0	62	38				
SLC29A1	2030	broad.mit.edu	37	6	44201158	44201158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:44201158G>C	uc003owu.1	+	13	1593	c.1264G>C	c.(1264-1266)GTG>CTG	p.V422L	SLC29A1_uc003owv.1_Missense_Mutation_p.V422L|SLC29A1_uc003oww.1_Missense_Mutation_p.V501L|SLC29A1_uc003owx.1_Missense_Mutation_p.V422L|SLC29A1_uc003owy.1_Missense_Mutation_p.V422L|SLC29A1_uc003owz.1_Missense_Mutation_p.V422L	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	422	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GCTTAGGAAAGTGAAGCCAGC	0.597		NaN											0	0	0	0.010771	0	38	125				
DST	667	broad.mit.edu	37	6	56458781	56458781	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:56458781A>T	uc003pdf.2	-	42	6077	c.6049T>A	c.(6049-6051)TTA>ATA	p.L2017I	DST_uc003pcz.3_Missense_Mutation_p.L1839I|DST_uc011dxj.1_Missense_Mutation_p.L1868I|DST_uc011dxk.1_Missense_Mutation_p.L1879I|DST_uc003pcy.3_Missense_Mutation_p.L1513I|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3925	Spectrin 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTTTTCTAATTCTTCCTGC	0.423		NaN											0	0	0	0.00874	0	42	45				
TFB1M	51106	broad.mit.edu	37	6	155619653	155619653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:155619653C>G	uc003qqj.3	-	3	416	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAAGCCTTTTCTACCTTAAAT	0.338		NaN											0	0	0	0.01892	0	20	19				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:170871088G>A	uc003qxt.2	+	3	496	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	TBP_uc003qxu.2_Silent_p.Q88Q|TBP_uc011ehf.1_Silent_p.Q68Q|TBP_uc011ehg.1_Silent_p.Q88Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.199		NaN											0	0	0	0.014758	0	4	20				
MEOX2	4223	broad.mit.edu	37	7	15725691	15725691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:15725691C>T	uc003stc.2	-	1	618	c.337G>A	c.(337-339)GAC>AAC	p.D113N	MEOX2_uc011jxw.1_Missense_Mutation_p.D113N	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	113					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCTCCAGAGTCGGGCTGGAGG	0.627		NaN											0	0	0	0.001984	0	7	6				
AOAH	313	broad.mit.edu	37	7	36671706	36671706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:36671706A>C	uc003tfh.3	-	6	858	c.457T>G	c.(457-459)TCT>GCT	p.S153A	AOAH_uc010kxf.2_Missense_Mutation_p.S153A|AOAH_uc011kba.1_Missense_Mutation_p.S121A	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	153					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						CCACTTCTAGAATATTTCTGG	0.393		NaN											0	0	0	0.001984	0	6	12				
GLI3	2737	broad.mit.edu	37	7	42005045	42005045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:42005045G>A	uc011kbh.1	-	15	3717	c.3626C>T	c.(3625-3627)CCT>CTT	p.P1209L	GLI3_uc011kbg.1_Missense_Mutation_p.P1150L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1209					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCCCAGCAGGCCCGCTCCT	0.652		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.009096	0	4	104				
ABCA13	154664	broad.mit.edu	37	7	48308595	48308595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:48308595C>T	uc003toq.2	+	16	2049	c.2024C>T	c.(2023-2025)CCT>CTT	p.P675L	ABCA13_uc010kyr.2_Missense_Mutation_p.P178L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	675					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GAGGAATCTCCTTGTTTTGAA	0.289		NaN											0	0	0	0.014758	0	5	27				
AUTS2	26053	broad.mit.edu	37	7	69364285	69364285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:69364285T>G	uc003tvw.3	+	2	1066	c.323T>G	c.(322-324)CTT>CGT	p.L108R	AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	108										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GATGTAGCACTTAAGCCTCAG	0.443		NaN											0	0	0	0.010729	0	11	41				
DNAJC30	84277	broad.mit.edu	37	7	73097379	73097379	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:73097379G>A	uc003tys.1	-	1	403	c.375C>T	c.(373-375)GTC>GTT	p.V125V	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog subfamily C member 30	125					protein folding		heat shock protein binding|unfolded protein binding				0						TGGAGGGCCGGACGCCAGGTC	0.741		NaN											0	0	0	0.004482	0	9	14				
HIP1	3092	broad.mit.edu	37	7	75178216	75178216	+	Silent	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178216A>T	uc003uds.1	-	23	2420	c.2379T>A	c.(2377-2379)GCT>GCA	p.A793A	HIP1_uc011kfz.1_Silent_p.A670A	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	793	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CAGTTTCAATAGCAGCTGAAG	0.552		NaN	T	PDGFRB	CMML								0	0	0	0.01441	0	59	139				
HIP1	3092	broad.mit.edu	37	7	75178225	75178225	+	Silent	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:75178225A>C	uc003uds.1	-	23	2411	c.2370T>G	c.(2368-2370)ACT>ACG	p.T790T	HIP1_uc011kfz.1_Silent_p.T667T	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	790	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TAGCAGCTGAAGTGGCCGCCA	0.567		NaN	T	PDGFRB	CMML								0	0	0	0.01441	0	62	134				
SEMA3D	223117	broad.mit.edu	37	7	84751131	84751131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:84751131C>T	uc003uic.2	-	1	117	c.77G>A	c.(76-78)AGC>AAC	p.S26N	SEMA3D_uc010led.2_Missense_Mutation_p.S26N|SEMA3D_uc010lee.1_Missense_Mutation_p.S26N	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	26					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CATGGTCATGCTTAGCATCAT	0.333		NaN											0	0	0	0.006122	0	12	24				
KIAA1324L	222223	broad.mit.edu	37	7	86554951	86554951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:86554951C>A	uc011kha.1	-	10	1477	c.1292G>T	c.(1291-1293)GGA>GTA	p.G431V	KIAA1324L_uc003uif.1_Missense_Mutation_p.G191V|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G317V|KIAA1324L_uc003uie.2_Missense_Mutation_p.G264V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	431	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					AGGCTCCGTTCCTGCTGGACA	0.418		NaN											1	0	2.32078e-09	0.003163	2.61832e-09	16	48				
PTCD1	26024	broad.mit.edu	37	7	99032712	99032712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:99032712G>A	uc003uqh.2	-	2	285	c.154C>T	c.(154-156)CAG>TAG	p.Q52*	PTCD1_uc011kiw.1_Nonsense_Mutation_p.Q101*	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	52										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGGCAGCTGAGAGGAGGAG	0.657		NaN											0	0	0	0.007413	0	20	18				
RELN	5649	broad.mit.edu	37	7	103214579	103214579	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:103214579T>C	uc003vca.2	-	30	4631	c.4471A>G	c.(4471-4473)AGG>GGG	p.R1491G	RELN_uc010liz.2_Missense_Mutation_p.R1491G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1491					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGCTTCCCTTTTCCCAGGG	0.468		NaN											0	0	0	0.009096	0	3	119				
CBLL1	79872	broad.mit.edu	37	7	107398668	107398668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:107398668G>A	uc003veq.2	+	6	851	c.521G>A	c.(520-522)AGA>AAA	p.R174K	CBLL1_uc011kme.1_Missense_Mutation_p.R53K|CBLL1_uc011kmf.1_Missense_Mutation_p.R173K	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	174	C2H2-type.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						GGGTGCAAGAGAACATATTTG	0.433		NaN											0	0	0	0.004007	0	15	52				
GRM8	2918	broad.mit.edu	37	7	126086316	126086316	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:126086316C>T	uc003vlr.2	-	9	2852	c.2541G>A	c.(2539-2541)CAG>CAA	p.Q847Q	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.Q847Q|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	847	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTGAACATTCTGTTCTGGAT	0.423		NaN								HNSCC(24;0.065)			0	0	0	0.010504	0	20	37				
FLNC	2318	broad.mit.edu	37	7	128486934	128486934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:128486934C>G	uc003vnz.3	+	24	4472	c.4263C>G	c.(4261-4263)ATC>ATG	p.I1421M	FLNC_uc003voa.3_Missense_Mutation_p.I1421M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1421	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGTCAACATCACCTTCGGGG	0.602		NaN											0	0	0	0.010504	0	19	34				
CALD1	800	broad.mit.edu	37	7	134643018	134643018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:134643018G>A	uc003vrz.2	+	11	2497	c.2038G>A	c.(2038-2040)GAG>AAG	p.E680K	CALD1_uc003vry.2_Missense_Mutation_p.E425K|CALD1_uc003vsa.2_Missense_Mutation_p.E451K|CALD1_uc003vsb.2_Missense_Mutation_p.E425K|CALD1_uc010lmm.2_Missense_Mutation_p.E450K|CALD1_uc011kpt.1_Missense_Mutation_p.E199K|CALD1_uc003vsc.2_Missense_Mutation_p.E445K|CALD1_uc003vsd.2_Missense_Mutation_p.E419K|CALD1_uc011kpu.1_Missense_Mutation_p.E430K|CALD1_uc011kpv.1_Missense_Mutation_p.E289K|CALD1_uc003vse.2_Missense_Mutation_p.E543K|CALD1_uc010lmn.2_5'Flank	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	680	Strong actin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						CAGCAGACTGGAGCAGTATAC	0.388		NaN											0	0	0	0.01441	0	59	49				
UBN2	254048	broad.mit.edu	37	7	138936757	138936757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:138936757G>C	uc011kqr.1	+	3	617	c.617G>C	c.(616-618)GGC>GCC	p.G206A		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206										ovary(1)|skin(1)	2						ATTGATATAGGCTTTGGCTAT	0.383		NaN											0	0	0	0.016522	0	21	56				
DNAJB6	10049	broad.mit.edu	37	7	157160089	157160089	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr7:157160089A>G	uc003wnk.2	+	5	412	c.258A>G	c.(256-258)CCA>CCG	p.P86P	DNAJB6_uc003wnj.2_Silent_p.P86P|DNAJB6_uc003wnl.2_Silent_p.P73P|DNAJB6_uc011kvy.1_Silent_p.P37P|DNAJB6_uc011kvz.1_Silent_p.P86P|DNAJB6_uc010lqt.2_Silent_p.P86P	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			ovary(2)	2	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGACAGTCCATTTGAATTTG	0.363		NaN											0	0	0	0.009718	0	39	55				
MYST3	7994	broad.mit.edu	37	8	41791525	41791525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:41791525C>T	uc010lxb.2	-	18	4757	c.4213G>A	c.(4213-4215)GAG>AAG	p.E1405K	MYST3_uc010lxc.2_Missense_Mutation_p.E1405K|MYST3_uc003xon.3_Missense_Mutation_p.E1405K	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1405					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TCGATTAACTCTTCCTTAGTG	0.498		NaN											0	0	0	0.016522	0	25	141				
TRIM55	84675	broad.mit.edu	37	8	67086715	67086715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:67086715G>C	uc003xvv.2	+	10	1760	c.1534G>C	c.(1534-1536)GAG>CAG	p.E512Q	TRIM55_uc003xvu.2_Nonstop_Mutation_p.*541S|TRIM55_uc003xvw.2_Missense_Mutation_p.E416Q|TRIM55_uc003xvx.2_Missense_Mutation_p.E205Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	512						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATTGGATTTGAGGCTCCTCC	0.468		NaN											0	0	0	0.003163	0	16	65				
TRPA1	8989	broad.mit.edu	37	8	72959440	72959440	+	Silent	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:72959440T>C	uc003xza.2	-	16	2083	c.1908A>G	c.(1906-1908)GTA>GTG	p.V636V	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	636	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AATCTAAAAGTACCTTTGAAA	0.308		NaN											0	0	0	0.016723	0	11	48				
VPS13B	157680	broad.mit.edu	37	8	100396448	100396448	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100396448T>C	uc003yiv.2	+	20	2948	c.2837T>C	c.(2836-2838)CTT>CCT	p.L946P	VPS13B_uc003yiw.2_Missense_Mutation_p.L946P|VPS13B_uc003yiu.1_Missense_Mutation_p.L946P|VPS13B_uc003yix.1_Missense_Mutation_p.L417P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	946					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGTACTTCTTTGCAGTATA	0.279		NaN											0	0	0	0.006214	0	9	257				
VPS13B	157680	broad.mit.edu	37	8	100523432	100523432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:100523432C>T	uc003yiv.2	+	29	4511	c.4400C>T	c.(4399-4401)TCA>TTA	p.S1467L	VPS13B_uc003yiw.2_Missense_Mutation_p.S1442L|VPS13B_uc003yix.1_Missense_Mutation_p.S937L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1467					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTAACATCAAGAAATGAG	0.378		NaN											0	0	0	0.01441	0	142	22				
DPYS	1807	broad.mit.edu	37	8	105405182	105405182	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:105405182A>C	uc003yly.3	-	8	1402	c.1273T>G	c.(1273-1275)TTC>GTC	p.F425V	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	425					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAATGTTGAAGTTAACAGCC	0.423		NaN											0	0	0	0.006214	0	9	56				
ZFPM2	23414	broad.mit.edu	37	8	106814151	106814151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr8:106814151C>A	uc003ymd.2	+	8	1864	c.1841C>A	c.(1840-1842)GCT>GAT	p.A614D	ZFPM2_uc011lhs.1_Missense_Mutation_p.A345D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	614					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCATTCTGCTGATCCTGAG	0.463		NaN											1	0	3.86212e-05	0.008291	4.24833e-05	11	62				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.014758	0	4	41				
APTX	54840	broad.mit.edu	37	9	32974519	32974519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:32974519G>A	uc003zrm.2	-	6	1008	c.811C>T	c.(811-813)CCT>TCT	p.P271S	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.P183S|APTX_uc011lns.1_Missense_Mutation_p.P92S|APTX_uc003zrl.2_Missense_Mutation_p.P97S|APTX_uc003zrn.2_Missense_Mutation_p.P183S|APTX_uc003zro.2_Missense_Mutation_p.P271S|APTX_uc003zrp.2_Missense_Mutation_p.P183S|APTX_uc003zrq.2_Missense_Mutation_p.P183S|APTX_uc003zrr.2_Missense_Mutation_p.P217S|APTX_uc003zrs.2_Missense_Mutation_p.P271S|APTX_uc003zrt.2_Missense_Mutation_p.P183S|APTX_uc003zru.2_Missense_Mutation_p.P217S|APTX_uc003zrv.2_Missense_Mutation_p.P285S|APTX_uc003zrw.2_Missense_Mutation_p.P199S|APTX_uc003zrx.2_Missense_Mutation_p.P271S|APTX_uc003zry.2_Missense_Mutation_p.P271S|APTX_uc003zrz.2_Missense_Mutation_p.P92S	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	285	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TTAAGGCAAGGAGAATCAAAA	0.318		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.005443	0	25	34				
NFX1	4799	broad.mit.edu	37	9	33366702	33366702	+	Missense_Mutation	SNP	C	C	A	rs35178105		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:33366702C>A	uc003zsq.2	+	22	3176	c.3115C>A	c.(3115-3117)CAA>AAA	p.Q1039K	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.Q1040K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1039	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGACTTGGCCCAAGTTTATGG	0.517		NaN											1	0	2.6416e-12	0.00623	2.99563e-12	40	63				
FRMD3	257019	broad.mit.edu	37	9	86153040	86153040	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:86153040A>G	uc004ams.1	-	1	309	c.107T>C	c.(106-108)ATC>ACC	p.I36T	FRMD3_uc004amr.1_Missense_Mutation_p.I22T	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						CAGCAGCCGGATGGTGCATCT	0.652		NaN											0	0	0	0.004482	0	9	16				
NTRK2	4915	broad.mit.edu	37	9	87338604	87338604	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:87338604A>T	uc004aoa.1	+	9	1638	c.700A>T	c.(700-702)AAC>TAC	p.N234Y	NTRK2_uc004anv.1_Missense_Mutation_p.N234Y|NTRK2_uc004any.1_Missense_Mutation_p.N234Y|NTRK2_uc004anz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lsz.1_Missense_Mutation_p.N234Y|NTRK2_uc011lta.1_Missense_Mutation_p.N234Y|NTRK2_uc004aob.1_Missense_Mutation_p.N234Y|NTRK2_uc011ltb.1_Missense_Mutation_p.N78Y	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	234	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GGATGTTGGTAACCTGGTTTC	0.433		NaN								TSP Lung(25;0.17)			0	0	0	0.007413	0	17	88				
CDK5RAP2	55755	broad.mit.edu	37	9	123151529	123151529	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123151529G>A	uc004bkf.2	-	38	5848	c.5667C>T	c.(5665-5667)AGC>AGT	p.S1889S	CDK5RAP2_uc010mvi.2_Silent_p.S898S|CDK5RAP2_uc004bke.2_Silent_p.S1174S|CDK5RAP2_uc004bkg.2_Silent_p.S1810S|CDK5RAP2_uc011lxw.1_Silent_p.S1154S|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.S1154S|CDK5RAP2_uc011lya.1_Silent_p.S1154S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1889	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGCCTGGTCTGCTGGGACTGC	0.473		NaN											0	0	0	0.004482	0	9	9				
CDK5RAP2	55755	broad.mit.edu	37	9	123169489	123169489	+	Silent	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123169489G>A	uc004bkf.2	-	32	4945	c.4764C>T	c.(4762-4764)TTC>TTT	p.F1588F	CDK5RAP2_uc010mvi.2_Silent_p.F597F|CDK5RAP2_uc004bke.2_Silent_p.F873F|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.F853F|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.F853F|CDK5RAP2_uc011lya.1_Silent_p.F853F|CDK5RAP2_uc004bkh.1_Silent_p.F1358F|CDK5RAP2_uc004bki.2_3'UTR	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1588					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GCAGGTCCCTGAAAGGATCCT	0.567		NaN											0	0	0	0.010504	0	19	40				
CDK5RAP2	55755	broad.mit.edu	37	9	123170639	123170639	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:123170639T>A	uc004bkf.2	-	31	4893	c.4712A>T	c.(4711-4713)CAC>CTC	p.H1571L	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H580L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H856L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1571L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H836L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H836L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1341L|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1338L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1571					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGTCTCCTGTGCTCTTCATC	0.557		NaN											0	0	0	0.021022	0	36	35				
RBM18	92400	broad.mit.edu	37	9	125009805	125009805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:125009805G>A	uc004bma.2	-	4	485	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	107							nucleotide binding|RNA binding				0						ACCTTTACTTGAGCATGTGCC	0.498		NaN											0	0	0	0.013537	0	13	30				
GARNL3	84253	broad.mit.edu	37	9	130147318	130147318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:130147318C>T	uc011mae.1	+	24	2683	c.2282C>T	c.(2281-2283)CCG>CTG	p.P761L	GARNL3_uc011mad.1_Missense_Mutation_p.P739L|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	761	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTGCTTTCCCGTATCTCCTG	0.617		NaN											0	0	0	0.021523	0	24	65				
FAM73B	84895	broad.mit.edu	37	9	131802905	131802905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:131802905T>C	uc004bxa.2	+	2	218	c.32T>C	c.(31-33)ATG>ACG	p.M11T	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.M11T	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	11	Helical; (Potential).					integral to membrane				skin(1)	1						GGCACGTCTATGATCCAGGCC	0.597		NaN											0	0	0	0.00874	0	40	47				
MED27	9442	broad.mit.edu	37	9	134955168	134955169	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr9:134955168_134955169GG>AA	uc004cbe.1	-	1	85_86	c.63_64CC>TT	c.(61-66)ATCCAG>ATTTAG	p.Q22*	MED27_uc004cbf.1_Nonsense_Mutation_p.Q22*|MED27_uc011mco.1_Nonsense_Mutation_p.Q22*|MED27_uc004cbg.3_Nonsense_Mutation_p.Q22*	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	22					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CGCAGCGCCTGGATGGCACTAA	0.609		NaN											0	0	0	0.004672	0	17	12				
SHROOM2	357	broad.mit.edu	37	X	9900215	9900215	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:9900215A>G	uc004csu.1	+	6	2982	c.2892A>G	c.(2890-2892)AGA>AGG	p.R964R	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	964					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CTTCCTCTAGACAAGCAGATG	0.502		NaN											0	0	0	0.004656	0	27	16				
GPR64	10149	broad.mit.edu	37	X	19014182	19014182	+	Silent	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19014182C>G	uc004cyx.2	-	27	2867	c.2703G>C	c.(2701-2703)CTG>CTC	p.L901L	GPR64_uc004cyy.2_Silent_p.L898L|GPR64_uc004cyz.2_Silent_p.L887L|GPR64_uc004czb.2_Silent_p.L901L|GPR64_uc004czc.2_Silent_p.L885L|GPR64_uc004czd.2_Silent_p.L877L|GPR64_uc004cze.2_Silent_p.L871L|GPR64_uc004czf.2_Silent_p.L863L|GPR64_uc004cza.2_Silent_p.L879L|GPR64_uc004cyw.2_Silent_p.L885L|GPR64_uc010nfj.2_Silent_p.L782L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	901	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AATTTTCAGCCAGCCGTAACT	0.363		NaN											0	0	0	0.01441	0	50	16				
MAP3K15	389840	broad.mit.edu	37	X	19389508	19389508	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:19389508C>T	uc004czk.1	-	24	3311	c.1674G>A	c.(1672-1674)TCG>TCA	p.S558S	MAP3K15_uc004czj.1_Silent_p.S518S|MAP3K15_uc004czi.1_Silent_p.S17S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1083							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GACTGATGGACGAGCTGTCAA	0.522		NaN											0	0	0	0.011902	0	43	13				
PRDX4	10549	broad.mit.edu	37	X	23700610	23700610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:23700610C>G	uc004dam.2	+	5	740	c.697C>G	c.(697-699)CAA>GAA	p.Q233E		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	233	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ACGTTTGGTTCAAGCATTCCA	0.378		NaN											0	0	0	0.01441	0	46	7				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.004007	0	17	6		Valid		
SLC9A7	84679	broad.mit.edu	37	X	46529104	46529104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:46529104G>A	uc004dgu.1	-	5	739	c.731C>T	c.(730-732)TCA>TTA	p.S244L	SLC9A7_uc004dgv.1_Missense_Mutation_p.S244L	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	244					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						AAATTTATCTGAGAGCTGTCC	0.348		NaN											0	0	0	0.020292	0	15	5				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs5902610		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:66765161A>T	uc004dwu.1	+	1	1288	c.173A>T	c.(172-174)CAG>CTG	p.Q58L	AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	58	Modulating.|Poly-Gln.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.328		NaN							Androgen_Insensitivity_Syndrome				0	0	0	0.00308	0	6	16				
SRPX2	27286	broad.mit.edu	37	X	99919817	99919817	+	Silent	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:99919817C>A	uc004egb.2	+	5	882	c.402C>A	c.(400-402)ACC>ACA	p.T134T		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	134	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						GCACTTACACCTGCACAAATG	0.512		NaN											1	0	0.004672	0.004672	0.00502611	3	13				
TCEAL2	140597	broad.mit.edu	37	X	101381895	101381895	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:101381895A>C	uc004eip.2	+	3	312	c.93A>C	c.(91-93)GAA>GAC	p.E31D		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GAAAGCCAGAAGTAGCTTGTA	0.418		NaN											0	0	0	0.009096	0	3	40				
IL1RAPL2	26280	broad.mit.edu	37	X	105011334	105011334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:105011334C>A	uc004elz.1	+	11	2497	c.1741C>A	c.(1741-1743)CTC>ATC	p.L581I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	581	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TTTTGGAGAACTCCAGCCTAT	0.453		NaN											1	0	5.18039e-06	0.00308	5.77056e-06	7	54				
RNF113A	7737	broad.mit.edu	37	X	119005263	119005263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:119005263G>A	uc004esb.2	-	1	529	c.314C>T	c.(313-315)TCG>TTG	p.S105L	NDUFA1_uc004esc.3_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	ring finger protein 113A	105							nucleic acid binding|zinc ion binding			breast(2)	2						GGGTTTCGCCGAACGGGTGGA	0.557		NaN											0	0	0	0.01441	0	194	31				
FAM122C	159091	broad.mit.edu	37	X	133979245	133979245	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:133979245T>C	uc004exz.1	+	4	662	c.257T>C	c.(256-258)ATG>ACG	p.M86T	FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.M86T	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	86											0	Acute lymphoblastic leukemia(192;0.000127)					GAAGAAGCCATGGATTTAATA	0.279		NaN											0	0	0	0.01441	0	109	27				
GPR112	139378	broad.mit.edu	37	X	135431715	135431715	+	Silent	SNP	G	G	C			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:135431715G>C	uc004ezu.1	+	6	6141	c.5850G>C	c.(5848-5850)GGG>GGC	p.G1950G	GPR112_uc010nsb.1_Silent_p.G1745G|GPR112_uc010nsc.1_Silent_p.G1717G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1950	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTAACCATGGGCTTTCTGAGA	0.413		NaN											0	0	0	0.01441	0	82	18				
FGF13	2258	broad.mit.edu	37	X	137717743	137717743	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:137717743A>G	uc004fam.2	-	4	1138	c.476T>C	c.(475-477)ATA>ACA	p.I159T	FGF13_uc004fan.2_Missense_Mutation_p.I106T|FGF13_uc011mwi.1_Missense_Mutation_p.I140T|FGF13_uc004faq.2_Missense_Mutation_p.I169T|FGF13_uc004far.2_Missense_Mutation_p.I140T|FGF13_uc011mwj.1_Missense_Mutation_p.I169T|FGF13_uc011mwk.1_Missense_Mutation_p.I113T	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	159					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGACGGTATATCATTGATGA	0.398		NaN											0	0	0	0.01441	0	53	6				
FMR1	2332	broad.mit.edu	37	X	147014278	147014278	+	Silent	SNP	A	A	G			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:147014278A>G	uc010nst.2	+	9	1065	c.876A>G	c.(874-876)TTA>TTG	p.L292L	FMR1_uc011mwz.1_Silent_p.L292L|FMR1_uc004fcj.2_Silent_p.L292L|FMR1_uc004fck.3_Silent_p.L292L|FMR1_uc004fcl.3_Silent_p.L153L|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	292	KH 2.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAACTTAGTAGGTAAGT	0.328		NaN							Fragile_X_syndrome				0	0	0	0.008361	0	31	11				
PLXNB3	5365	broad.mit.edu	37	X	153043511	153043511	+	Silent	SNP	C	C	T			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chrX:153043511C>T	uc004fii.2	+	32	5544	c.5370C>T	c.(5368-5370)TTC>TTT	p.F1790F	PLXNB3_uc010nuk.2_Silent_p.F1813F|PLXNB3_uc011mzd.1_Silent_p.F1429F|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1790	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGACCTTCATTGACTCCT	0.572		NaN											0	0	0	0.009535	0	29	6				
SCNN1D	6339	broad.mit.edu	37	1	1221484	1221484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:1221484G>A	uc001adu.1	+	6	869	c.245G>A	c.(244-246)CGC>CAC	p.R82H	SCNN1D_uc001adt.1_Missense_Mutation_p.R246H|SCNN1D_uc001adw.2_Missense_Mutation_p.R148H|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R82H	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGCGGGAACCGCCTCAAGACG	0.692		NaN											0	0	0	0.009096	0	4	25				
CHD5	26038	broad.mit.edu	37	1	6214906	6214906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:6214906C>T	uc001amb.1	-	5	659	c.559G>A	c.(559-561)GTC>ATC	p.V187I		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	187					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCCAGGACGGTCATCATT	0.498		NaN											0	0	0	0.01441	0	61	44				
PADI2	11240	broad.mit.edu	37	1	17395694	17395694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17395694C>T	uc001baf.2	-	16	1925	c.1843G>A	c.(1843-1845)GAG>AAG	p.E615K	PADI2_uc010ocm.1_Missense_Mutation_p.E499K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	615					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACGTGCATCTCCAGGCAGCAT	0.592		NaN											0	0	0	0.010729	0	7	98				
PADI4	23569	broad.mit.edu	37	1	17682587	17682587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17682587G>A	uc001baj.2	+	12	1448	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	474					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACGTGGACGAGTTCCTGAG	0.632		NaN											0	0	0	0.004482	0	8	48				
UBR4	23352	broad.mit.edu	37	1	19423752	19423752	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:19423752T>G	uc001bbi.2	-	91	13329	c.13325A>C	c.(13324-13326)TAT>TCT	p.Y4442S	UBR4_uc010ocv.1_Missense_Mutation_p.Y5S|UBR4_uc009vph.2_Missense_Mutation_p.Y76S|UBR4_uc010ocw.1_Missense_Mutation_p.Y106S|UBR4_uc001bbg.2_Missense_Mutation_p.Y153S|UBR4_uc001bbh.2_Missense_Mutation_p.Y151S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4442					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATACGATAAACAATCCT	0.498		NaN											0	0	0	0.001168	0	4	51				
USP48	84196	broad.mit.edu	37	1	22074693	22074693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:22074693C>G	uc001bfb.2	-	7	1084	c.846G>C	c.(844-846)AAG>AAC	p.K282N	USP48_uc010odq.1_Missense_Mutation_p.K282N|USP48_uc009vqc.2_Missense_Mutation_p.K282N|USP48_uc001bfc.2_Missense_Mutation_p.K282N|USP48_uc001bfe.1_Missense_Mutation_p.K282N|USP48_uc001bff.2_Missense_Mutation_p.K282N	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	282					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GAAGTCGAATCTTTCTTGTTG	0.348		NaN											0	0	0	0.009096	0	4	25				
ZNF436	80818	broad.mit.edu	37	1	23688971	23688971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23688971C>G	uc001bgt.2	-	3	1285	c.904G>C	c.(904-906)GGG>CGG	p.G302R	ZNF436_uc001bgu.2_Missense_Mutation_p.G302R	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGCCTCTCCCCTGTGTGGACT	0.522		NaN											0	0	0	0.021523	0	22	108				
ASAP3	55616	broad.mit.edu	37	1	23763473	23763473	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23763473G>C	uc001bha.2	-	15	1531	c.1407C>G	c.(1405-1407)CGC>CGG	p.R469R	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.R338R|ASAP3_uc010oea.1_Silent_p.R460R|ASAP3_uc001bhb.2_5'UTR	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	469	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CGCCCAGTTCGCGGTGGACGC	0.677		NaN											0	0	0	0.00308	0	6	29				
ARID1A	8289	broad.mit.edu	37	1	27107008	27107008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:27107008C>T	uc001bmv.1	+	20	6992	c.6619C>T	c.(6619-6621)CAG>TAG	p.Q2207*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1990*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q1053*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q535*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q449*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2207					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCCGCCACACAGTTCCAGCA	0.642		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	59	65		Valid		
TTC39A	22996	broad.mit.edu	37	1	51761767	51761767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:51761767C>T	uc001csl.2	-	13	1342	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	TTC39A_uc001csk.2_Missense_Mutation_p.E378K|TTC39A_uc010ond.1_Missense_Mutation_p.E350K|TTC39A_uc010one.1_Missense_Mutation_p.E377K|TTC39A_uc010onf.1_Missense_Mutation_p.E381K|TTC39A_uc001csn.2_Missense_Mutation_p.E412K|TTC39A_uc001csj.2_Missense_Mutation_p.E14K	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	413							binding			skin(1)	1						AATTCCACTTCGTCGTCCCCG	0.592		NaN											0	0	0	0.016723	0	10	4				
CC2D1B	200014	broad.mit.edu	37	1	52821911	52821911	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:52821911C>A	uc001ctq.1	-	18	2157	c.2019G>T	c.(2017-2019)CAG>CAT	p.Q673H	CC2D1B_uc001ctr.2_Missense_Mutation_p.Q213H|CC2D1B_uc001cts.2_Missense_Mutation_p.Q358H	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	673										ovary(2)	2						GGTCGAGGCCCTGAGCCTGGG	0.572		NaN											1	0	8.10497e-08	0.010504	9.039e-08	18	71				
LRRC7	57554	broad.mit.edu	37	1	70509735	70509735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:70509735G>C	uc001dep.2	+	20	3984	c.3954G>C	c.(3952-3954)CAG>CAC	p.Q1318H	LRRC7_uc009wbg.2_Missense_Mutation_p.Q602H|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1318						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TAAACTTGCAGACTAAGTCTA	0.398		NaN											0	0	0	0.010729	0	12	45				
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:112309338G>A	uc001ebs.2	+	11	2649	c.2292G>A	c.(2290-2292)CTG>CTA	p.L764L	DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453		NaN											0	0	0	0.004482	0	9	86				
SYT6	148281	broad.mit.edu	37	1	114680320	114680320	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:114680320G>A	uc001eev.2	-	3	863	c.613C>T	c.(613-615)CTG>TTG	p.L205L		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	290	Cytoplasmic (Potential).|C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGGTTCAGGGTCTTGCGG	0.557		NaN											0	0	0	0.004007	0	14	71				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NaN											0	0	0	0.014758	0	5	97				
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:149857978G>C	uc001etc.2	-	1	255	c.213C>G	c.(211-213)TTC>TTG	p.F71L	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622		NaN											0	0	0	0.01441	0	152	138				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:153907309C>T	uc001fdd.1	-	18	3101	c.2700G>A	c.(2698-2700)CAG>CAA	p.Q900Q	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.468		NaN											0	0	0	0.004482	0	7	120				
NES	10763	broad.mit.edu	37	1	156640211	156640211	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:156640211C>G	uc001fpq.2	-	4	3902	c.3769G>C	c.(3769-3771)GGG>CGG	p.G1257R		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1257	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTACTTTCCCCAGGGCTTCA	0.642		NaN											0	0	0	0.013726	0	27	240				
FCRL5	83416	broad.mit.edu	37	1	157489551	157489551	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:157489551G>C	uc001fqu.2	-	13	2800	c.2642C>G	c.(2641-2643)CCT>CGT	p.P881R	FCRL5_uc009wsm.2_Missense_Mutation_p.P881R	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	881	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCAGAGGCAGGCTTTCTCCC	0.502		NaN											0	0	0	0.013537	0	8	60				
DCAF6	55827	broad.mit.edu	37	1	167973115	167973115	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:167973115G>C	uc001gew.2	+	9	1247	c.1005G>C	c.(1003-1005)CAG>CAC	p.Q335H	DCAF6_uc001gev.2_Missense_Mutation_p.Q335H|DCAF6_uc001gex.2_Missense_Mutation_p.Q335H|DCAF6_uc010plk.1_Missense_Mutation_p.Q304H|DCAF6_uc001gey.2_Missense_Mutation_p.Q188H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	335					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TAGGAGAGCAGAGTCCCAATG	0.353		NaN											0	0	0	0.009096	0	3	111				
TIPRL	261726	broad.mit.edu	37	1	168169157	168169157	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:168169157T>C	uc001gfg.2	+	7	837	c.692T>C	c.(691-693)CTC>CCC	p.L231P	TIPRL_uc001gfh.2_Silent_p.P232P	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	231	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					CCACCTTCCCTCTTCACGGAA	0.343		NaN											0	0	0	0.01441	0	123	34				
CACNA1E	777	broad.mit.edu	37	1	181680116	181680116	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:181680116T>A	uc001gow.2	+	8	1247	c.1082T>A	c.(1081-1083)GTG>GAG	p.V361E	CACNA1E_uc009wxs.2_Missense_Mutation_p.V268E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	361	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AGAGAGAGAGTGGAGAACCGA	0.522		NaN											0	0	0	0.00308	0	6	195				
FAM129A	116496	broad.mit.edu	37	1	184777366	184777366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:184777366G>C	uc001gra.2	-	10	1371	c.1177C>G	c.(1177-1179)CTA>GTA	p.L393V	FAM129A_uc001grb.1_Missense_Mutation_p.L156V|FAM129A_uc009wyh.1_Missense_Mutation_p.L221V|FAM129A_uc009wyi.1_Missense_Mutation_p.L191V	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	393					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						AGCCGGTCTAGATGCTGCATT	0.433		NaN											0	0	0	0.01441	0	42	18				
CTSE	1510	broad.mit.edu	37	1	206318358	206318358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:206318358G>A	uc001hdu.2	+	2	234	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	CTSE_uc001hdv.2_Missense_Mutation_p.R39Q|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	39					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGCGGGCACGGAGCCAGCTC	0.557		NaN											0	0	0	0.020292	0	13	40				
ACTN2	88	broad.mit.edu	37	1	236907968	236907968	+	Missense_Mutation	SNP	C	C	T	rs143749154	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:236907968C>T	uc001hyf.2	+	12	1502	c.1298C>T	c.(1297-1299)TCG>TTG	p.S433L	ACTN2_uc001hyg.2_Missense_Mutation_p.S225L|ACTN2_uc009xgi.1_Missense_Mutation_p.S433L|ACTN2_uc010pxu.1_Missense_Mutation_p.S122L|ACTN2_uc001hyh.2_Missense_Mutation_p.S121L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	433	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGTCGGCGTCGCTGACAGAG	0.602		NaN											0	0	0	0.00874	0	38	22				
DHTKD1	55526	broad.mit.edu	37	10	12148334	12148334	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:12148334G>T	uc001ild.3	+	11	2085	c.1986G>T	c.(1984-1986)GAG>GAT	p.E662D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	662					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCCTGTGGGAGGCACAGTTTG	0.527		NaN											1	0	0.000157383	0.00308	0.000170451	6	157				
CUBN	8029	broad.mit.edu	37	10	17083214	17083214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17083214C>T	uc001ioo.2	-	27	3887	c.3835G>A	c.(3835-3837)GAG>AAG	p.E1279K		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1279	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACATTCTCACATGCTGGA	0.343		NaN											0	0	0	0.020292	0	10	74				
CUBN	8029	broad.mit.edu	37	10	17107557	17107557	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17107557A>T	uc001ioo.2	-	22	3141	c.3089T>A	c.(3088-3090)CTC>CAC	p.L1030H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1030	CUB 5.	Calcium 1; via carbonyl oxygen.			cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATAAGCGAGGTCGGAGTC	0.428		NaN											0	0	0	0.015359	0	33	196				
STOX1	219736	broad.mit.edu	37	10	70645483	70645483	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:70645483G>A	uc001jos.2	+	3	2018	c.1931G>A	c.(1930-1932)CGA>CAA	p.R644Q	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.R534Q	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	644						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CTGCCATCACGAGGTGCCTCC	0.453		NaN											0	0	0	0.00632	0	21	73				
GBF1	8729	broad.mit.edu	37	10	104129518	104129518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104129518G>C	uc001kux.1	+	25	3438	c.3198G>C	c.(3196-3198)GAG>GAC	p.E1066D	GBF1_uc001kuy.1_Missense_Mutation_p.E1066D|GBF1_uc001kuz.1_Missense_Mutation_p.E1067D	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1066					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCGGGAAGAGACACCATCAA	0.483		NaN											0	0	0	0.012319	0	16	38				
GBF1	8729	broad.mit.edu	37	10	104142018	104142018	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104142018C>T	uc001kux.1	+	40	5745	c.5505C>T	c.(5503-5505)ATC>ATT	p.I1835I	GBF1_uc001kuy.1_Silent_p.I1831I|GBF1_uc001kuz.1_Silent_p.I1832I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1835	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGCTCATCGAGGCCACCT	0.637		NaN											0	0	0	0.01441	0	43	160				
OSBPL5	114879	broad.mit.edu	37	11	3125474	3125474	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:3125474G>C	uc001lxk.2	-	10	1351	c.1193C>G	c.(1192-1194)TCC>TGC	p.S398C	OSBPL5_uc010qxq.1_Missense_Mutation_p.S309C|OSBPL5_uc009ydw.2_Missense_Mutation_p.S330C|OSBPL5_uc001lxl.2_Missense_Mutation_p.S330C|OSBPL5_uc009ydx.2_Missense_Mutation_p.S422C	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	398					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTTCAGGAAGGAGCGCGGCTC	0.627		NaN											0	0	0	0.010504	0	17	48				
OR5I1	10798	broad.mit.edu	37	11	55702943	55702943	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:55702943C>G	uc010ris.1	-	1	934	c.934G>C	c.(934-936)GAT>CAT	p.D312H		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATGAAGAATCTACCTTTGAT	0.353		NaN											0	0	0	0.004672	0	3	21				
OR8K3	219473	broad.mit.edu	37	11	56085843	56085843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:56085843G>A	uc010rjf.1	+	1	61	c.61G>A	c.(61-63)GCT>ACT	p.A21T		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					CACAGATATCGCTGAGCTGCA	0.438		NaN											0	0	0	0.01441	0	42	102				
OR5B17	219965	broad.mit.edu	37	11	58125948	58125948	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:58125948G>T	uc010rke.1	-	1	595	c.595C>A	c.(595-597)CTT>ATT	p.L199I		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTGATATAAGAACAAGAATC	0.363		NaN											1	0	0.00909568	0.009096	0.00950768	3	37				
PITPNM1	9600	broad.mit.edu	37	11	67267792	67267792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:67267792C>G	uc001olx.2	-	5	930	c.741G>C	c.(739-741)GAG>GAC	p.E247D	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E247D|PITPNM1_uc001olz.2_Missense_Mutation_p.E247D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	247					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						TGCGAGCAGTCTCCTCTTCCA	0.682		NaN											0	0	0	0.01441	0	57	260				
CPT1A	1374	broad.mit.edu	37	11	68525172	68525172	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:68525172C>G	uc001oog.3	-	19	2432	c.2262G>C	c.(2260-2262)CTG>CTC	p.L754L	CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	754	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTGCTTCTTTCAGGTGCCTTC	0.398		NaN											0	0	0	0.008291	0	9	39				
ATM	472	broad.mit.edu	37	11	108216494	108216494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:108216494G>A	uc001pkb.1	+	58	8828	c.8443G>A	c.(8443-8445)GAG>AAG	p.E2815K	ATM_uc009yxr.1_Missense_Mutation_p.E2815K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1467K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2815	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCTTTTGAAGAGAAATATGA	0.269		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.009096	0	3	67		Invalid		
C11orf63	79864	broad.mit.edu	37	11	122756667	122756667	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:122756667G>A	uc001pym.2	+	2	407	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	C11orf63_uc001pyl.1_Missense_Mutation_p.R37Q	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	37										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACTTACATCGGATTTCAAAA	0.433		NaN											0	0	0	0.012319	0	23	55				
TMEM225	338661	broad.mit.edu	37	11	123753889	123753889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:123753889G>C	uc001pzi.2	-	4	842	c.634C>G	c.(634-636)CTA>GTA	p.L212V		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	212						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						TTTTTGTTTAGGGAATTCACA	0.408		NaN											0	0	0	0.004007	0	15	72				
ROBO4	54538	broad.mit.edu	37	11	124763844	124763844	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:124763844G>C	uc001qbg.2	-	9	1556	c.1416C>G	c.(1414-1416)GCC>GCG	p.A472A	ROBO4_uc010sas.1_Silent_p.A327A|ROBO4_uc001qbh.2_Silent_p.A362A|ROBO4_uc001qbi.2_Silent_p.A30A|ROBO4_uc010sat.1_Silent_p.A30A	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	472					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACCGCAGGTGGCAATGACCT	0.652		NaN											0	0	0	0.001984	0	4	25				
KIRREL3	84623	broad.mit.edu	37	11	126314964	126314964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:126314964C>T	uc001qea.2	-	10	1523	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	KIRREL3_uc001qeb.2_Missense_Mutation_p.V388M|KIRREL3_uc001qec.1_Missense_Mutation_p.V388M	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	388	Extracellular (Potential).|Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCTGGCGCACGGATTTGAGG	0.617		NaN											0	0	0	0.00499	0	15	59				
ARHGAP32	9743	broad.mit.edu	37	11	128856559	128856559	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:128856559C>T	uc009zcp.2	-	13	1261	c.1261G>A	c.(1261-1263)GAA>AAA	p.E421K	ARHGAP32_uc009zcq.1_Missense_Mutation_p.E381K|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.E72K|ARHGAP32_uc001qfb.2_Missense_Mutation_p.E206K	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	421	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAGTCAAATTCATGGCTGACG	0.453		NaN											0	0	0	0.003163	0	14	49				
ADAMTS15	170689	broad.mit.edu	37	11	130341218	130341218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:130341218G>C	uc010scd.1	+	7	2018	c.2018G>C	c.(2017-2019)GGG>GCG	p.G673A		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	673	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACAAGTGTGGGGTGTGTGGG	0.567		NaN											0	0	0	0.006214	0	9	78				
IGSF9B	22997	broad.mit.edu	37	11	133790010	133790010	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:133790010G>C	uc001qgx.3	-	18	3841	c.3610C>G	c.(3610-3612)CTG>GTG	p.L1204V		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1204	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTTGGGTCAGAGGTGAGAGC	0.711		NaN											0	0	0	0.008361	0	28	93				
IQSEC3	440073	broad.mit.edu	37	12	247681	247681	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:247681G>A	uc001qhw.1	+	1	249	c.243G>A	c.(241-243)TCG>TCA	p.S81S	IQSEC3_uc001qhu.1_Silent_p.S81S|IQSEC3_uc001qht.1_Silent_p.S166S|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	384					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTGCGCTCGCCCTCCCTGC	0.697		NaN											0	0	0	0.004672	0	3	5				
FBXL14	144699	broad.mit.edu	37	12	1702939	1702939	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:1702939G>A	uc001qjh.2	-	1	393	c.294C>T	c.(292-294)AGC>AGT	p.S98S	WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Silent_p.S10S	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	98						cytoplasm				ovary(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TGTAGCAGCCGCTGAGGTTGA	0.652		NaN											0	0	0	0.006122	0	14	75				
NCAPD2	9918	broad.mit.edu	37	12	6634839	6634839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6634839C>G	uc001qoo.2	+	18	2351	c.2305C>G	c.(2305-2307)CTG>GTG	p.L769V	NCAPD2_uc009zen.1_Missense_Mutation_p.L641V|NCAPD2_uc010sfd.1_Missense_Mutation_p.L724V	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	769					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CTGCTGTCCTCTGGAGCGCTG	0.557		NaN											0	0	0	0.003163	0	13	21				
SPSB2	84727	broad.mit.edu	37	12	6981672	6981672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6981672C>A	uc001qrl.2	-	2	550	c.394G>T	c.(394-396)GGC>TGC	p.G132C	SPSB2_uc001qrm.2_Missense_Mutation_p.G132C|SPSB2_uc010sfp.1_Missense_Mutation_p.G132C|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	132	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						ATGTCCCAGCCCCACGACTCG	0.701		NaN									OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.39806e-14	0.008361	1.63197e-14	23	114				
BHLHE41	79365	broad.mit.edu	37	12	26275715	26275715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:26275715C>T	uc001rhb.2	-	5	1024	c.733G>A	c.(733-735)GAA>AAA	p.E245K		NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix domain containing, class	245					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCCTCGGCTTCGCCGCCGTAG	0.736		NaN											0	0	0	0.004482	0	7	14				
FAM113B	91523	broad.mit.edu	37	12	47629841	47629841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:47629841G>A	uc001rpn.2	+	4	1726	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	FAM113B_uc001rpq.2_Missense_Mutation_p.R332Q	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	332	Pro-rich.						hydrolase activity	p.R332W(1)		skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GGAATGCCCCGGTTCCCACAG	0.328		NaN											0	0	0	0.01441	0	37	178				
DDN	23109	broad.mit.edu	37	12	49391444	49391444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:49391444C>G	uc001rsv.1	-	2	1233	c.1215G>C	c.(1213-1215)TGG>TGC	p.W405C	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	405	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						CTCCGGGAGCCCAGGGTCTGG	0.627		NaN											0	0	0	0.020292	0	12	50				
ITGA7	3679	broad.mit.edu	37	12	56094913	56094913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:56094913C>G	uc001shh.2	-	4	660	c.440G>C	c.(439-441)AGG>ACG	p.R147T	ITGA7_uc001shg.2_Missense_Mutation_p.R147T|ITGA7_uc010sps.1_Missense_Mutation_p.R50T|ITGA7_uc009znx.2_Missense_Mutation_p.R34T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	147	FG-GAP 2.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CACTCGCTGCCTTGCCTCATA	0.592		NaN											0	0	0	0.020292	0	11	202				
HMGA2	8091	broad.mit.edu	37	12	66357034	66357034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:66357034G>A	uc001ssx.2	+	5	1103	c.292G>A	c.(292-294)GAA>AAA	p.E98K		NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	98					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(22)	208	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAGGAAACTGAAGAGACATC	0.512		NaN	T	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT	lipoma|leiomyoma|pleiomorphic salivary gland adenoma								0	0	0	0.003163	0	12	39				
KRR1	11103	broad.mit.edu	37	12	75905364	75905364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:75905364G>A	uc001sxt.2	-	1	55	c.14C>T	c.(13-15)TCG>TTG	p.S5L	KRR1_uc009zsc.2_Missense_Mutation_p.S5L|KRR1_uc010stx.1_Missense_Mutation_p.S5L	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	5					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						CCGCTCCAGCGAGGGAGACGC	0.532		NaN											0	0	0	0.006214	0	9	49				
GNPTAB	79158	broad.mit.edu	37	12	102158444	102158444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:102158444G>A	uc001tit.2	-	13	2430	c.2251C>T	c.(2251-2253)CAA>TAA	p.Q751*		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	751					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						ATTATAGCTTGATTTTTTATT	0.383		NaN											0	0	0	0.014758	0	5	26				
ALDH1L2	160428	broad.mit.edu	37	12	105440691	105440691	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:105440691C>T	uc001tlc.2	-	14	1870	c.1743G>A	c.(1741-1743)AAG>AAA	p.K581K	ALDH1L2_uc009zuo.2_Silent_p.K36K|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	581	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						GTGGCTCTTTCTTGGTGAAGG	0.393		NaN											0	0	0	0.007835	0	35	159				
ANAPC7	51434	broad.mit.edu	37	12	110826320	110826320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:110826320G>C	uc001tqo.2	-	4	620	c.619C>G	c.(619-621)CTA>GTA	p.L207V	ANAPC7_uc001tqp.3_Missense_Mutation_p.L207V	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						TCTCTACCTAGAATGGCATCA	0.373		NaN											0	0	0	0.006214	0	8	62				
TBX5	6910	broad.mit.edu	37	12	114836395	114836395	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:114836395G>A	uc001tvo.2	-	5	988	c.493C>T	c.(493-495)CTG>TTG	p.L165L	TBX5_uc001tvp.2_Silent_p.L165L|TBX5_uc001tvq.2_Silent_p.L115L|TBX5_uc010syv.1_Silent_p.L165L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	165	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGGTCCAGGTGGTTGTTG	0.468		NaN											0	0	0	0.014758	0	5	30				
TAOK3	51347	broad.mit.edu	37	12	118590040	118590040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118590040C>G	uc001twx.2	-	20	2822	c.2527G>C	c.(2527-2529)GAG>CAG	p.E843Q	TAOK3_uc001twv.2_Missense_Mutation_p.E383Q|TAOK3_uc001tww.2_Missense_Mutation_p.E673Q|TAOK3_uc001twy.3_Missense_Mutation_p.E843Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	843	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTCTGCTCAAGGTGTGCT	0.468		NaN											0	0	0	0.008291	0	8	67				
TAOK3	51347	broad.mit.edu	37	12	118599765	118599765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118599765G>T	uc001twx.2	-	18	2262	c.1967C>A	c.(1966-1968)ACC>AAC	p.T656N	TAOK3_uc001twv.2_Missense_Mutation_p.T196N|TAOK3_uc001tww.2_Missense_Mutation_p.T486N|TAOK3_uc001twy.3_Missense_Mutation_p.T656N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	656					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCTCGGGTGGACTCGTC	0.512		NaN											1	0	2.4624e-09	0.008871	2.80882e-09	16	62				
GCN1L1	10985	broad.mit.edu	37	12	120597747	120597747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:120597747G>C	uc001txo.2	-	24	2644	c.2631C>G	c.(2629-2631)ATC>ATG	p.I877M		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	877					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAAAACAGGGATGTACTGGG	0.592		NaN											0	0	0	0.004007	0	14	88				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493		NaN											0	0	0	0.009535	0	19	121				
CCDC62	84660	broad.mit.edu	37	12	123297940	123297940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:123297940G>A	uc001udc.2	+	11	2120	c.1975G>A	c.(1975-1977)GAG>AAG	p.E659K	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.E659K|CCDC62_uc001ude.2_Missense_Mutation_p.E420K	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	659						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CATCAGCCATGAGAATCTCAC	0.498		NaN											0	0	0	0.006214	0	10	59				
POLE	5426	broad.mit.edu	37	12	133218913	133218913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:133218913G>A	uc001uks.1	-	38	5067	c.5023C>T	c.(5023-5025)CGC>TGC	p.R1675C	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R479C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1675					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGAGGTGGCGGGCAAAGAAG	0.597		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.004656	0	26	45				
FNDC3A	22862	broad.mit.edu	37	13	49760119	49760119	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:49760119A>C	uc001vcm.2	+	15	1942	c.1637A>C	c.(1636-1638)GAA>GCA	p.E546A	FNDC3A_uc001vcn.2_Missense_Mutation_p.E546A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E472A|FNDC3A_uc001vcq.2_Missense_Mutation_p.E490A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	546	Fibronectin type-III 3.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAACTCAGAAGGTAAAAGT	0.353		NaN											0	0	0	0.001984	0	7	22				
GAS6	2621	broad.mit.edu	37	13	114530137	114530137	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:114530137T>C	uc001vud.2	-	12	1462	c.1309A>G	c.(1309-1311)ATA>GTA	p.I437V	GAS6_uc001vug.2_Missense_Mutation_p.I138V|GAS6_uc001vuf.2_Missense_Mutation_p.I164V	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	480	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGAGGGTTTATCTGGAAAGGC	0.592		NaN											0	0	0	0.010818	0	27	79				
DCAF11	80344	broad.mit.edu	37	14	24584853	24584853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:24584853C>G	uc001wlv.2	+	2	330	c.50C>G	c.(49-51)TCC>TGC	p.S17C	NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.S17C|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_5'UTR|DCAF11_uc001wme.2_Missense_Mutation_p.S17C|DCAF11_uc010tny.1_5'UTR|DCAF11_uc001wmd.2_Missense_Mutation_p.S17C|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Missense_Mutation_p.S17C|DCAF11_uc001wma.3_Missense_Mutation_p.S17C	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	17						CUL4 RING ubiquitin ligase complex	protein binding				0						GGAGACCCCTCCGAGGGCTTG	0.617		NaN											0	0	0	0.01441	0	34	70				
G2E3	55632	broad.mit.edu	37	14	31085657	31085657	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:31085657G>C	uc001wqk.2	+	15	2192	c.2038G>C	c.(2038-2040)GAG>CAG	p.E680Q	G2E3_uc010tpf.1_Missense_Mutation_p.E634Q|G2E3_uc001wql.1_Missense_Mutation_p.E192Q	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	680	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TACATATAAAGAGTTTCAAGA	0.333		NaN											0	0	0	0.006214	0	8	19				
LRFN5	145581	broad.mit.edu	37	14	42361055	42361055	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:42361055T>C	uc001wvm.2	+	4	3186	c.1988T>C	c.(1987-1989)GTT>GCT	p.V663A	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	663	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCACAAATGTTGAATCCCAA	0.483		NaN								HNSCC(30;0.082)			0	0	0	0.013537	0	11	28				
SPATA7	55812	broad.mit.edu	37	14	88892876	88892876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:88892876C>G	uc001xwq.2	+	6	824	c.673C>G	c.(673-675)CTT>GTT	p.L225V	SPATA7_uc001xwr.2_Missense_Mutation_p.L193V|SPATA7_uc001xws.2_Missense_Mutation_p.L161V|SPATA7_uc001xwt.2_Missense_Mutation_p.L119V|SPATA7_uc001xwu.2_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	225					response to stimulus|visual perception					ovary(1)	1						CAGTGGGGATCTTTTGGATAA	0.438		NaN											0	0	0	0.010504	0	16	75				
BTBD7	55727	broad.mit.edu	37	14	93712182	93712182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:93712182C>T	uc001ybo.2	-	10	2898	c.2572G>A	c.(2572-2574)GAG>AAG	p.E858K	BTBD7_uc010aur.2_Missense_Mutation_p.E383K|BTBD7_uc010two.1_Missense_Mutation_p.E678K|BTBD7_uc001ybp.2_Missense_Mutation_p.E507K	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	858										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.448		NaN											0	0	0	0.016723	0	14	43				
ATG2B	55102	broad.mit.edu	37	14	96784135	96784135	+	Missense_Mutation	SNP	G	G	C	rs113424169		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:96784135G>C	uc001yfi.2	-	19	3302	c.2937C>G	c.(2935-2937)TTC>TTG	p.F979L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	979										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAATATTCTCGAATGTCTCCA	0.368		NaN											0	0	0	0.00623	0	32	83				
AHNAK2	113146	broad.mit.edu	37	14	105413989	105413989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:105413989G>A	uc010axc.1	-	7	7919	c.7799C>T	c.(7798-7800)GCG>GTG	p.A2600V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2500V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2600						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCGCCTTGGGGCC	0.622		NaN											0	0	0	0.01441	0	41	217				
C15orf55	256646	broad.mit.edu	37	15	34646669	34646669	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:34646669C>G	uc001zif.2	+	5	1169	c.1014C>G	c.(1012-1014)GCC>GCG	p.A338A	C15orf55_uc010ucc.1_Silent_p.A366A|C15orf55_uc010ucd.1_Silent_p.A356A	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	338						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGAAGGCAGCCTCCAAGACAC	0.557		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.012319	0	19	92				
PPIB	5479	broad.mit.edu	37	15	64454323	64454323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:64454323C>A	uc002and.2	-	2	335	c.166G>T	c.(166-168)GAT>TAT	p.D56Y	PPIB_uc010bgx.1_Missense_Mutation_p.D48Y	NM_000942	NP_000933	P23284	PPIB_HUMAN	peptidylprolyl isomerase B precursor	56	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding				0					L-Proline(DB00172)	CGGCCTACATCTTCATCTCCA	0.463		NaN											1	0	1.67211e-32	0.01441	1.99061e-32	44	157				
ISG20	3669	broad.mit.edu	37	15	89182733	89182733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:89182733G>C	uc002bmv.1	+	2	429	c.136G>C	c.(136-138)GAG>CAG	p.E46Q	ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	46					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CATCCGGCCTGAGGGAGAGAT	0.642		NaN											0	0	0	0.007413	0	15	117				
HDDC3	374659	broad.mit.edu	37	15	91475081	91475081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:91475081C>A	uc002bqf.3	-	3	266	c.262G>T	c.(262-264)GAG>TAG	p.E88*	UNC45A_uc002bqd.2_Intron|HDDC3_uc002bqe.3_Nonsense_Mutation_p.E88*	NM_198527	NP_940929	Q8N4P3	MESH1_HUMAN	HD domain containing 3	88	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			ovary(1)	1	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCTGTTACCTCCTCCACCAGG	0.627		NaN									OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.05317e-09	0.020292	1.21054e-09	13	75				
WDR90	197335	broad.mit.edu	37	16	716521	716521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:716521G>T	uc002cii.1	+	38	4861	c.4807G>T	c.(4807-4809)GTC>TTC	p.V1603F	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.V218F|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.V202F|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1603	WD 20.									ovary(1)	1		Hepatocellular(780;0.0218)				GCGGGTCAGCGTCTGGGCCTC	0.622		NaN											1	0	7.45023e-12	0.010504	8.66305e-12	18	51				
MKL2	57496	broad.mit.edu	37	16	14345773	14345773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:14345773G>A	uc010uza.1	+	14	2613	c.2458G>A	c.(2458-2460)GCC>ACC	p.A820T	MKL2_uc002dcg.2_Missense_Mutation_p.A770T|MKL2_uc002dcj.2_Missense_Mutation_p.A65T	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	809					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GAGACATCCTGCCCCAGCTGT	0.423		NaN											0	0	0	0.009535	0	26	115				
ATP2A1	487	broad.mit.edu	37	16	28914646	28914646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:28914646G>A	uc002dro.1	+	21	3049	c.2865G>A	c.(2863-2865)ATG>ATA	p.M955I	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.M955I|ATP2A1_uc002drp.1_Missense_Mutation_p.M830I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	955	Lumenal (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCCCCAGATGATCTTCAAGC	0.637		NaN											0	0	0	0.008871	0	17	259				
QPRT	23475	broad.mit.edu	37	16	29708422	29708422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29708422G>A	uc002dto.2	+	3	733	c.655G>A	c.(655-657)GTC>ATC	p.V219I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_RNA	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	219					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)	TGCCGACCTTGTCCTGCTGGA	0.642		NaN											0	0	0	0.00308	0	6	47				
MVP	9961	broad.mit.edu	37	16	29855914	29855914	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29855914G>T	uc002dui.2	+	11	1819	c.1735G>T	c.(1735-1737)GTG>TTG	p.V579L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.V579L|MVP_uc010vea.1_Missense_Mutation_p.V173L	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	579					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CGCATCCCGGGTGCGGGGGGC	0.562		NaN											1	0	3.65916e-55	0.01441	4.40863e-55	157	101				
SETD1A	9739	broad.mit.edu	37	16	30992428	30992428	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:30992428G>T	uc002ead.1	+	17	5425	c.4739G>T	c.(4738-4740)TGG>TTG	p.W1580L		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1580	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						ATCCACGAGTGGGGTCTGTTT	0.612		NaN											1	0	5.04308e-16	0.00623	5.93303e-16	35	227				
CDH15	1013	broad.mit.edu	37	16	89260217	89260217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:89260217G>C	uc002fmt.2	+	13	2124	c.2047G>C	c.(2047-2049)GGA>CGA	p.G683R		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	683	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGCCTCTGGGACCGCCGCC	0.697		NaN											0	0	0	0.001168	0	5	40				
TUBB3	10381	broad.mit.edu	37	16	90001364	90001364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:90001364G>A	uc002fph.1	+	4	570	c.505G>A	c.(505-507)GTC>ATC	p.V169I	TUBB3_uc002fpf.2_Missense_Mutation_p.V516I|TUBB3_uc010ciz.1_Missense_Mutation_p.V97I|TUBB3_uc002fpg.1_Missense_Mutation_p.V23I|TUBB3_uc002fpi.1_Missense_Mutation_p.V97I|TUBB3_uc002fpj.1_Missense_Mutation_p.V97I|TUBB3_uc010cjb.1_Missense_Mutation_p.V23I|TUBB3_uc002fpk.1_Missense_Mutation_p.V23I	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	169					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CACCTTCAGCGTCGTGCCCTC	0.627		NaN											0	0	0	0.01441	0	53	187				
PELP1	27043	broad.mit.edu	37	17	4578480	4578480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4578480G>A	uc002fyi.3	-	11	1394	c.1168C>T	c.(1168-1170)CGG>TGG	p.R390W	PELP1_uc010vsf.1_Missense_Mutation_p.R243W	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	390					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						CGCAAGAGCCGGCTTCCACAC	0.612		NaN											0	0	0	0.004672	0	3	20				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4619828A>C	uc002fyj.2	+	5	510	c.282A>C	c.(280-282)CCA>CCC	p.P94P	ARRB2_uc002fyk.2_Silent_p.P79P|ARRB2_uc002fyl.2_Silent_p.P94P|ARRB2_uc010vsg.1_Silent_p.P94P|ARRB2_uc002fym.2_Silent_p.P79P|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'Flank	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	94					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0						TGCCCAACCCACCCCGGCCCC	0.667		NaN											0	0	0	0.013726	0	13	60				
CXCL16	58191	broad.mit.edu	37	17	4642109	4642109	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4642109C>G	uc002fyr.3	-	2	775	c.243G>C	c.(241-243)CTG>CTC	p.L81L	CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Silent_p.L81L|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	62	Extracellular (Potential).|Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						GGTAAGCTCTCAGGTGTTTCC	0.552		NaN											0	0	0	0.00499	0	12	43				
ASGR1	432	broad.mit.edu	37	17	7077715	7077715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7077715C>G	uc002ges.3	-	6	830	c.420G>C	c.(418-420)CAG>CAC	p.Q140H	ASGR1_uc010clx.1_Missense_Mutation_p.Q39H	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	140	Extracellular (Probable).				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						GCGCCGCCATCTGACAGCTCA	0.682		NaN											0	0	0	0.004007	0	16	20				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	52	40		Valid		
DNAH2	146754	broad.mit.edu	37	17	7702490	7702490	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7702490T>C	uc002giu.1	+	55	8643	c.8629T>C	c.(8629-8631)TAC>CAC	p.Y2877H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2877	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCGCCTACCTCATTGA	0.592		NaN											0	0	0	0.004672	0	3	68				
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:8397110C>G	uc002gll.2	-	30	4153	c.4057G>C	c.(4057-4059)GAG>CAG	p.E1353Q	MYH10_uc002glm.2_Missense_Mutation_p.E1384Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1362Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1353	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCCTCCTCCTCCTGCTGCTCC	0.587		NaN											0	0	0	0.009096	0	3	49				
MYH3	4621	broad.mit.edu	37	17	10538231	10538231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:10538231C>T	uc002gmq.1	-	30	4359	c.4282G>A	c.(4282-4284)GAT>AAT	p.D1428N		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1428	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ACCATCAGATCCTCCACCTCT	0.537		NaN											0	0	0	0.01441	0	53	36				
UTP6	55813	broad.mit.edu	37	17	30205295	30205295	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:30205295G>C	uc002hgr.2	-	13	1182	c.1099C>G	c.(1099-1101)CTG>GTG	p.L367V	UTP6_uc002hgq.2_Missense_Mutation_p.L183V|UTP6_uc010cst.2_Missense_Mutation_p.L216V	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	367					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CATTCTGACAGAAGCTTCAGT	0.408		NaN											0	0	0	0.01892	0	17	77				
UTP18	51096	broad.mit.edu	37	17	49340655	49340655	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:49340655G>C	uc002its.2	+	2	412	c.363G>C	c.(361-363)TCG>TCC	p.S121S		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	121					rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATGAAGACTCGGGTGACTCAG	0.438		NaN											0	0	0	0.010729	0	10	46				
ANKFN1	162282	broad.mit.edu	37	17	54431282	54431282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:54431282C>G	uc002iun.1	+	5	520	c.485C>G	c.(484-486)CCA>CGA	p.P162R		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	162	ANK 1.									large_intestine(1)|ovary(1)	2						CAGTACACACCAGAAGAACTT	0.493		NaN											0	0	0	0.008871	0	17	58				
KIAA0195	9772	broad.mit.edu	37	17	73486837	73486837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:73486837C>T	uc002jnz.3	+	11	1401	c.1126C>T	c.(1126-1128)CAG>TAG	p.Q376*	KIAA0195_uc010wsa.1_Nonsense_Mutation_p.Q386*|KIAA0195_uc010wsb.1_Nonsense_Mutation_p.Q28*	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	376					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTCCTCTCAGGTACAACA	0.557		NaN											0	0	0	0.016723	0	12	44				
ARL16	339231	broad.mit.edu	37	17	79650829	79650829	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:79650829C>G	uc002kbf.2	-	1	126	c.27G>C	c.(25-27)TTG>TTC	p.L9F	ARL16_uc002kbe.2_5'Flank|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	9							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCCGCGGCTCAAGGCCCGCC	0.637		NaN											0	0	0	0.009096	0	4	28				
ZNF750	79755	broad.mit.edu	37	17	80789199	80789199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80789199C>T	uc002kga.2	-	2	1443	c.1132G>A	c.(1132-1134)GAA>AAA	p.E378K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	378						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATTGGACTTTCGAACTCGACG	0.572		NaN											0	0	0	0.005443	0	22	108				
TBCD	6904	broad.mit.edu	37	17	80887006	80887006	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80887006G>T	uc002kfz.2	+	31	2841	c.2711G>T	c.(2710-2712)TGC>TTC	p.C904F	TBCD_uc002kfy.1_Missense_Mutation_p.C904F|TBCD_uc002kgb.1_Missense_Mutation_p.C229F|TBCD_uc002kgc.2_Missense_Mutation_p.C49F|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	904					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGCATCATGTGCTGTGTGGCC	0.612		NaN											1	0	0.00448238	0.004482	0.0047183	7	71				
LAMA3	3909	broad.mit.edu	37	18	21519274	21519274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr18:21519274C>T	uc002kuq.2	+	68	9036	c.8950C>T	c.(8950-8952)CAT>TAT	p.H2984Y	LAMA3_uc002kur.2_Missense_Mutation_p.H2928Y|LAMA3_uc002kus.3_Missense_Mutation_p.H1375Y|LAMA3_uc002kut.3_Missense_Mutation_p.H1319Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2984					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGCCAATCATGGAGCCCT	0.547		NaN											0	0	0	0.01441	0	75	196				
RNF126	55658	broad.mit.edu	37	19	648951	648951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:648951C>A	uc010drs.2	-	7	707	c.601G>T	c.(601-603)GGC>TGC	p.G201C	RNF126_uc002lpi.2_Missense_Mutation_p.G25C	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	201							protein binding|zinc ion binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGGGGCCTGTGTTTTCA	0.552		NaN											1	0	0.000602214	0.014758	0.000642934	4	13				
PCSK4	54760	broad.mit.edu	37	19	1489889	1489889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1489889G>C	uc002ltb.1	-	2	259	c.197C>G	c.(196-198)CCT>CGT	p.P66R	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	66				P -> S (in Ref. 1; AAQ89322 and 3; AAH36354).	proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCGTCAGGGAAGATCTG	0.672		NaN											0	0	0	0.014758	0	3	14				
MBD3	53615	broad.mit.edu	37	19	1584563	1584563	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1584563C>T	uc002ltl.1	-	3	406	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q	MBD3_uc002ltj.2_Silent_p.Q128Q|MBD3_uc002ltk.2_Silent_p.Q96Q	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	128					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCCTTCTGCGGGTCGC	0.632		NaN											0	0	0	0.004656	0	25	89				
SH3GL1	6455	broad.mit.edu	37	19	4363777	4363777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:4363777C>G	uc002maj.2	-	6	670	c.564G>C	c.(562-564)GAG>GAC	p.E188D	SH3GL1_uc002mak.2_Missense_Mutation_p.E124D|SH3GL1_uc010xig.1_Missense_Mutation_p.E140D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	188	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCTCGAACTTCTCCAGCGCCT	0.582		NaN	T	MLL	AL								0	0	0	0.012319	0	20	85				
NRTN	4902	broad.mit.edu	37	19	5824095	5824095	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:5824095C>A	uc002mde.2	+	1	278	c.-81C>A	c.(-83--79)TCCTG>TCATG			NM_004558	NP_004549	Q99748	NRTN_HUMAN	neurturin preproprotein						axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity				0						ACACTGAGTCCTGGCCCAGCG	0.632		NaN											1	0	0.000602214	0.014758	0.000642934	5	27				
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:6230661C>A	uc002mek.2	-	4	504	c.340G>T	c.(340-342)GTG>TTG	p.V114L		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	114					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						AGGTGGTTCACGGGCGGGTTG	0.612		NaN	T	MLL	AL								1	0	2.17066e-49	0.01441	2.60479e-49	97	162				
CNN1	1264	broad.mit.edu	37	19	11660204	11660204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:11660204G>A	uc002msc.1	+	6	732	c.568G>A	c.(568-570)GAC>AAC	p.D190N	CNN1_uc010xmb.1_Missense_Mutation_p.D140N|CNN1_uc010xmc.1_Missense_Mutation_p.D140N	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	190					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CCACCTCTACGACCCCAAGCT	0.617		NaN											0	0	0	0.007413	0	16	77				
COMP	1311	broad.mit.edu	37	19	18902016	18902016	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:18902016C>A	uc002nke.2	-	1	99	c.63G>T	c.(61-63)CAG>CAT	p.Q21H	COMP_uc002nkd.2_Translation_Start_Site|COMP_uc010xqj.1_Missense_Mutation_p.Q21H	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	21					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GGCTCTGGCCCTGTCCGGACG	0.697		NaN											1	0	7.48243e-07	0.006214	8.28313e-07	9	8				
ZNF737	100129842	broad.mit.edu	37	19	20728275	20728275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20728275G>A	uc002npa.2	-	4	914	c.734C>T	c.(733-735)ACT>ATT	p.T245I		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	245					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CTTATGTGCAGTAAGGTATGA	0.403		NaN											0	0	0	0.004672	0	3	26				
ZNF626	199777	broad.mit.edu	37	19	20828521	20828521	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20828521C>A	uc002npb.1	-	3	345	c.195G>T	c.(193-195)ATG>ATT	p.M65I	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.M65I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CATTTCTCTTCATGGTCAAAG	0.388		NaN											1	0	0.00024832	0.009096	0.000267011	4	45				
ZNF626	199777	broad.mit.edu	37	19	20829085	20829085	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20829085C>A	uc002npb.1	-	2	280	c.130G>T	c.(130-132)GGT>TGT	p.G44C	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.G44C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTATCCTCACCAAGGAAGACC	0.333		NaN											1	0	1.05317e-09	0.020292	1.21054e-09	13	80				
MLL4	9757	broad.mit.edu	37	19	36212397	36212397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:36212397G>C	uc010eei.2	+	3	2148	c.2148G>C	c.(2146-2148)AAG>AAC	p.K716N		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	716	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTGTTAAGGCCGAGGTGT	0.657		NaN											0	0	0	0.00499	0	15	76		Valid		
ZNF383	163087	broad.mit.edu	37	19	37733545	37733545	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:37733545G>C	uc002oft.1	+	8	987	c.407G>C	c.(406-408)GGG>GCG	p.G136A	ZNF383_uc002ofs.1_Missense_Mutation_p.G71A|ZNF383_uc002ofu.1_Missense_Mutation_p.G136A	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCCAAATGGGCATTTTAGT	0.378		NaN											0	0	0	0.008871	0	17	82				
FBXO27	126433	broad.mit.edu	37	19	39521746	39521746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:39521746C>G	uc002okh.2	-	4	577	c.495G>C	c.(493-495)CAG>CAC	p.Q165H		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	165	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGTCCAAGACCTGCTTCTTGC	0.527		NaN											0	0	0	0.012213	0	29	144				
HIPK4	147746	broad.mit.edu	37	19	40895437	40895437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:40895437C>T	uc002onp.2	-	1	658	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	125	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTGAGCCGGGCCAGGGCTGTG	0.602		NaN											0	0	0	0.01892	0	19	92				
CYP2A7	1549	broad.mit.edu	37	19	41386396	41386396	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:41386396G>T	uc002opm.2	-	3	1023	c.481C>A	c.(481-483)CGG>AGG	p.R161R	CYP2A7_uc002opo.2_Silent_p.R161R|CYP2A7_uc002opn.2_Silent_p.R110R	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	161						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCGTGCTCCGGATGGCCTCG	0.662		NaN											1	0	1.836e-18	0.017118	2.16851e-18	29	173				
IRGC	56269	broad.mit.edu	37	19	44223733	44223733	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44223733G>A	uc002oxh.2	+	2	1170	c.1023G>A	c.(1021-1023)GAG>GAA	p.E341E		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	341						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				TCTCGCCTGAGACTGTCCTGC	0.677		NaN											0	0	0	0.010729	0	10	64				
ZNF227	7770	broad.mit.edu	37	19	44739769	44739769	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44739769C>T	uc002oyu.2	+	6	1391	c.1186C>T	c.(1186-1188)CGT>TGT	p.R396C	ZNF227_uc010xwu.1_Missense_Mutation_p.R345C|ZNF227_uc002oyv.2_Missense_Mutation_p.R396C|ZNF227_uc010xwv.1_Missense_Mutation_p.R345C|ZNF227_uc010xww.1_Missense_Mutation_p.R317C|ZNF227_uc002oyw.2_Missense_Mutation_p.R368C|ZNF227_uc010ejh.2_Missense_Mutation_p.R389C|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	396	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				TGTTAATCTCCGTGTTCACCA	0.463		NaN											0	0	0	0.008871	0	19	39				
ZFP112	7771	broad.mit.edu	37	19	44832239	44832239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44832239C>G	uc010ejj.2	-	5	2202	c.2089G>C	c.(2089-2091)GAG>CAG	p.E697Q	ZFP112_uc002ozc.3_Missense_Mutation_p.E691Q|ZFP112_uc010xwy.1_Missense_Mutation_p.E714Q|ZFP112_uc010xwz.1_Missense_Mutation_p.E696Q	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	697	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTACCACACTCATCACATTGG	0.448		NaN											0	0	0	0.00308	0	8	41				
FBXO46	23403	broad.mit.edu	37	19	46216736	46216736	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46216736G>A	uc002pcy.2	-	2	143	c.18C>T	c.(16-18)CTC>CTT	p.L6L	FBXO46_uc002pcz.2_Silent_p.L6L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	6							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAAGGGCAGGAGGCTCCCAC	0.657		NaN											0	0	0	0.001168	0	5	68				
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46914959T>C	uc002pep.2	-	1	1961	c.1109A>G	c.(1108-1110)GAG>GGG	p.E370G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607		NaN											0	0	0	0.004482	0	5	227				
DHX34	9704	broad.mit.edu	37	19	47865903	47865903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:47865903C>G	uc010xyn.1	+	6	1887	c.1546C>G	c.(1546-1548)CCC>GCC	p.P516A	DHX34_uc010elc.1_Missense_Mutation_p.P431A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	516	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCCCCTACCCCGTCCCAGA	0.652		NaN											0	0	0	0.003163	0	12	40				
AP2A1	160	broad.mit.edu	37	19	50302585	50302585	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:50302585G>C	uc002ppn.2	+	9	1178	c.967G>C	c.(967-969)GAG>CAG	p.E323Q	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.E323Q|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	323					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTGGCAGTGAGCCCAACCT	0.637		NaN											0	0	0	0.020292	0	11	31				
LILRA2	11027	broad.mit.edu	37	19	55086317	55086318	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55086317_55086318GG>TA	uc002qgg.3	+	4	561_562	c.472_473GG>TA	c.(472-474)GGA>TAA	p.G158*	LILRA2_uc010ern.2_Nonsense_Mutation_p.G158*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.G158*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.G158*|LILRA2_uc010yff.1_Nonsense_Mutation_p.G146*|LILRA2_uc010ero.2_Nonsense_Mutation_p.G146*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.G158*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	158	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GTGTAAGGAAGGAGAAGATGAA	0.604		NaN											0	0	0	0.004672	0	24	162				
LILRA1	11024	broad.mit.edu	37	19	55106715	55106715	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55106715C>G	uc002qgh.1	+	5	691	c.509C>G	c.(508-510)TCA>TGA	p.S170*	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Nonsense_Mutation_p.S170*	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	170	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGCCTGAACTCACAGCCCCGT	0.567		NaN											0	0	0	0.00874	0	36	208				
KIR3DL1	3811	broad.mit.edu	37	19	55341573	55341573	+	Missense_Mutation	SNP	C	C	G	rs1130473		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55341573C>G	uc002qhk.3	+	9	1241	c.1178C>G	c.(1177-1179)CCT>CGT	p.P393R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P318R|KIR3DL1_uc010esf.2_Missense_Mutation_p.P298R|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P335R|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	393	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GAACAAGACCCTGAGGAGGTG	0.522		NaN											0	0	0	0.01441	0	85	410				
TNNT1	7138	broad.mit.edu	37	19	55653248	55653248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55653248C>G	uc002qjb.3	-	7	258	c.169G>C	c.(169-171)GAA>CAA	p.E57Q	TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.E57Q|TNNT1_uc002qje.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjd.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjf.2_Missense_Mutation_p.E53Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	57					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGCTCCCCTTCTGGGATCTTT	0.448		NaN											0	0	0	0.011902	0	35	212				
SH3YL1	26751	broad.mit.edu	37	2	234213	234213	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234213G>C	uc002qvx.2	-	5	435	c.351C>G	c.(349-351)GGC>GGG	p.G117G	SH3YL1_uc002qvy.2_Silent_p.G117G|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Silent_p.G21G|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Silent_p.G21G|SH3YL1_uc002qvw.2_RNA	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1 isoform 1	117										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TCAGATTTCCGCCTTTTGCAA	0.418		NaN											0	0	0	0.007413	0	15	118				
KLF11	8462	broad.mit.edu	37	2	10186443	10186443	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:10186443G>T	uc002raf.1	+	2	371	c.209G>T	c.(208-210)AGA>ATA	p.R70I	KLF11_uc010yjc.1_Missense_Mutation_p.R53I	NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	70					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCGGATAAGACCCCTCACG	0.512		NaN											1	0	7.03913e-09	0.013537	7.96882e-09	10	45				
FAM49A	81553	broad.mit.edu	37	2	16747025	16747025	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:16747025A>G	uc010exm.1	-	3	229	c.81T>C	c.(79-81)CCT>CCC	p.P27P	FAM49A_uc002rck.1_Silent_p.P27P	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	27						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCCTTCTGTAGGCTGAGCAT	0.498		NaN											0	0	0	0.004672	0	3	29				
C2orf16	84226	broad.mit.edu	37	2	27800283	27800283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:27800283G>A	uc002rkz.3	+	1	895	c.844G>A	c.(844-846)GAG>AAG	p.E282K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	282										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTTGACCGCTGAGGCAAGGAT	0.463		NaN											0	0	0	0.021523	0	26	54				
VIT	5212	broad.mit.edu	37	2	37035743	37035743	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:37035743G>C	uc002rpl.2	+	15	1739	c.1518G>C	c.(1516-1518)TTG>TTC	p.L506F	VIT_uc002rpm.2_Missense_Mutation_p.L484F|VIT_uc010ezv.2_Missense_Mutation_p.L462F|VIT_uc010ezw.2_Missense_Mutation_p.L463F	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	491						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				AGACCTGCTTGAACTCGGCTG	0.612		NaN											0	0	0	0.021523	0	20	136				
SPTBN1	6711	broad.mit.edu	37	2	54883083	54883084	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:54883083_54883084GA>TT	uc002rxu.2	+	29	6243_6244	c.5994_5995GA>TT	c.(5992-5997)AAGAGG>AATTGG	p.1998_1999KR>NW	SPTBN1_uc002rxx.2_Missense_Mutation_p.1985_1986KR>NW|SPTBN1_uc002rxy.2_Missense_Mutation_p.143_144KR>NW|SPTBN1_uc010you.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1998_1999	Spectrin 17.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TGACGGAAAAGAGGAAAGAAAT	0.411		NaN											0	0	0	0.004672	0	5	38				
ZAP70	7535	broad.mit.edu	37	2	98340715	98340715	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:98340715C>T	uc002syd.1	+	3	423	c.216C>T	c.(214-216)GCC>GCT	p.A72A	ZAP70_uc010yvf.1_Silent_p.A72A|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	72	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ACGCCATTGCCGGCGGCAAAG	0.677		NaN											0	0	0	0.004672	0	3	34				
EIF5B	9669	broad.mit.edu	37	2	99993068	99993068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:99993068G>C	uc002tab.2	+	10	1995	c.1811G>C	c.(1810-1812)AGG>ACG	p.R604T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	604					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AAAGAAGAAAGGGCTTATGAC	0.373		NaN											0	0	0	0.016723	0	10	41				
MERTK	10461	broad.mit.edu	37	2	112779916	112779916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:112779916G>A	uc002thk.1	+	18	2553	c.2431G>A	c.(2431-2433)GAC>AAC	p.D811N	MERTK_uc002thl.1_Missense_Mutation_p.D635N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	811	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						TGAGATGTATGACTATCTTCT	0.537		NaN											0	0	0	0.00499	0	17	47				
CBWD2	150472	broad.mit.edu	37	2	114195539	114195539	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:114195539G>C	uc002tju.2	+	1	272	c.94G>C	c.(94-96)GAG>CAG	p.E32Q	CBWD2_uc002tjt.2_Missense_Mutation_p.E32Q|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	32	Poly-Glu.						ATP binding|protein binding				0						GCAAAGCGAGGAGGAGGAAAA	0.547		NaN											0	0	0	0.001168	0	5	205				
SP110	3431	broad.mit.edu	37	2	231081529	231081529	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:231081529T>C	uc002vqh.3	-	2	354	c.114A>G	c.(112-114)CTA>CTG	p.L38L	SP110_uc002vqg.3_Silent_p.L38L|SP110_uc002vqi.3_Silent_p.L38L|SP110_uc010fxk.2_Silent_p.L38L	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	38	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGGAGTTGTCTAGGAGGCCTT	0.483		NaN											0	0	0	0.010504	0	18	70				
UGT1A9	54600	broad.mit.edu	37	2	234581244	234581244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234581244C>T	uc002vus.2	+	1	701	c.664C>T	c.(664-666)CGT>TGT	p.R222C	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R222C	NM_021027	NP_066307	O60656	UD19_HUMAN	UDP glycosyltransferase 1 family, polypeptide A9	222					drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(3)|breast(1)|skin(1)	5		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)	ATTATGCCACCGTTTTTTCAA	0.428		NaN											0	0	0	0.01441	0	52	132				
UGT1A6	54578	broad.mit.edu	37	2	234602440	234602440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234602440C>T	uc002vuv.3	+	1	929	c.790C>T	c.(790-792)CCT>TCT	p.P264S	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.P264S	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	264					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GCTTGAATATCCTAGGCCGGT	0.433		NaN											0	0	0	0.01441	0	87	256				
HJURP	55355	broad.mit.edu	37	2	234761219	234761219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234761219C>T	uc002vvg.2	-	3	298	c.232G>A	c.(232-234)GAG>AAG	p.E78K	HJURP_uc010znd.1_Missense_Mutation_p.E71K|HJURP_uc010zne.1_Missense_Mutation_p.E71K	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	78					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTGGATCTCTCCTTCGTTT	0.378		NaN											0	0	0	0.014758	0	5	15				
ZCCHC3	85364	broad.mit.edu	37	20	278815	278815	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:278815G>C	uc002wdf.2	+	2	609	c.585G>C	c.(583-585)ATG>ATC	p.M195I	ZCCHC3_uc002wdg.2_Intron	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	196							nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCATCGGCATGGACCCGAGCG	0.647		NaN											0	0	0	0.004482	0	7	43				
MAVS	57506	broad.mit.edu	37	20	3846784	3846784	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:3846784G>A	uc002wjw.3	+	7	1782	c.1613G>A	c.(1612-1614)CGT>CAT	p.R538H	MAVS_uc002wjx.3_Missense_Mutation_p.R397H|MAVS_uc002wjy.3_Missense_Mutation_p.R236H	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	538	Mitochondrial intermembrane (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						TACCGGCGGCGTCTGCACTAG	0.637		NaN											0	0	0	0.013537	0	9	48				
SPTLC3	55304	broad.mit.edu	37	20	13074186	13074186	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:13074186G>T	uc002wod.1	+	6	1077	c.788G>T	c.(787-789)CGA>CTA	p.R263L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	263					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	CTTGGGGCCCGACTCTCAGGT	0.398		NaN											1	0	1.26484e-09	0.00308	1.4483e-09	6	77				
E2F1	1869	broad.mit.edu	37	20	32264765	32264765	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:32264765C>G	uc002wzu.3	-	7	1227	c.1087G>C	c.(1087-1089)GGC>CGC	p.G363R	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	363	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						CGCAGGCTGCCCATCCGGGAC	0.726		NaN											0	0	0	0.00308	0	5	18				
DLGAP4	22839	broad.mit.edu	37	20	35068239	35068239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35068239G>A	uc002xff.2	+	5	1759	c.1324G>A	c.(1324-1326)GAC>AAC	p.D442N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D442N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	442					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCGTCAGCGACAGCCTCAA	0.632		NaN									OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004007	0	14	53				
DSN1	79980	broad.mit.edu	37	20	35383166	35383166	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35383166C>G	uc010gfr.2	-	10	1334	c.961G>C	c.(961-963)GGA>CGA	p.G321R	DSN1_uc002xfz.2_Missense_Mutation_p.G321R|DSN1_uc002xfy.3_Missense_Mutation_p.G111R|DSN1_uc002xga.2_Missense_Mutation_p.G321R|DSN1_uc010zvs.1_Missense_Mutation_p.G214R|DSN1_uc002xgc.2_Missense_Mutation_p.G305R|DSN1_uc002xgb.2_Missense_Mutation_p.G305R	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN	DSN1, MIND kinetochore complex component,	321					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)				ACAAGCTTACCGAGCTGTACT	0.473		NaN											0	0	0	0.014758	0	5	35				
RPN2	6185	broad.mit.edu	37	20	35865107	35865107	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35865107C>G	uc002xgp.2	+	16	2182	c.1878C>G	c.(1876-1878)GTC>GTG	p.V626V	RPN2_uc002xgq.2_Silent_p.V594V	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	626	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGCAGGCAGTCAAGAGGTAAG	0.532		NaN											0	0	0	0.020292	0	12	85				
VSTM2L	128434	broad.mit.edu	37	20	36572409	36572409	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:36572409C>T	uc002xhk.3	+	4	623	c.369C>T	c.(367-369)ATC>ATT	p.I123I		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	123	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				GCAGCAACATCTCCCACAAGC	0.652		NaN											0	0	0	0.001984	0	5	42				
ZNFX1	57169	broad.mit.edu	37	20	47866170	47866170	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:47866170G>T	uc002xui.2	-	14	3638	c.3391C>A	c.(3391-3393)CAG>AAG	p.Q1131K		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1131							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCTCATGCTGGTTCTGATGG	0.493		NaN											1	0	2.56e-06	0.009096	2.81319e-06	4	125				
PHACTR3	116154	broad.mit.edu	37	20	58322813	58322813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:58322813C>T	uc002yau.2	+	3	748	c.281C>T	c.(280-282)GCG>GTG	p.A94V	PHACTR3_uc002yat.2_Missense_Mutation_p.A91V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A53V|PHACTR3_uc002yav.2_Missense_Mutation_p.A53V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A53V|PHACTR3_uc002yax.2_Missense_Mutation_p.A53V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	94	RPEL 1.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGTTGGGCAGCGCTGGAGAAG	0.577		NaN											0	0	0	0.010818	0	30	119				
DIDO1	11083	broad.mit.edu	37	20	61513532	61513532	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:61513532C>A	uc002ydr.1	-	16	4040	c.3776G>T	c.(3775-3777)GGG>GTG	p.G1259V	DIDO1_uc002yds.1_Missense_Mutation_p.G1259V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1259	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGGCGGCGACCCAGGAGGTGT	0.622		NaN											1	0	3.13743e-37	0.01441	3.74992e-37	66	262				
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:31852400C>T	uc011acx.1	-	1	237	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						CTCCATTGTACGATGGGCGGC	0.493		NaN											0	0	0	0.017118	0	30	258				
DNAJC28	54943	broad.mit.edu	37	21	34861116	34861116	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:34861116C>A	uc002yrv.2	-	2	1034	c.585G>T	c.(583-585)AAG>AAT	p.K195N	DNAJC28_uc002yrw.2_Missense_Mutation_p.K195N	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	195							heat shock protein binding				0						CTTGCGTTATCTTTTGCTGTT	0.373		NaN											1	0	1.67942e-08	0.006122	1.88698e-08	17	59				
SETD4	54093	broad.mit.edu	37	21	37408469	37408469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:37408469C>G	uc002yuw.1	-	10	2642	c.1269G>C	c.(1267-1269)AAG>AAC	p.K423N	SETD4_uc002yux.1_Missense_Mutation_p.K399N|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.K423N	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	423				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						large_intestine(1)|ovary(1)	2						CCCTGAGAATCTTTAGCTCTT	0.443		NaN											0	0	0	0.01441	0	38	132				
UBASH3A	53347	broad.mit.edu	37	21	43854960	43854960	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:43854960A>T	uc002zbe.2	+	10	1325	c.1289A>T	c.(1288-1290)GAC>GTC	p.D430V	UBASH3A_uc002zbf.2_Missense_Mutation_p.D392V|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.D392V	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	430	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						TACAGGCCAGACCTGAATTTC	0.443		NaN											0	0	0	0.00499	0	14	39				
KRTAP10-7	386675	broad.mit.edu	37	21	46021232	46021232	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:46021232C>G	uc002zfn.3	+	2	721	c.696C>G	c.(694-696)GTC>GTG	p.V232V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	237	30 X 5 AA repeats of C-C-X(3).|17.					keratin filament					0						GTGTGCCTGTCTGCTGCAAGC	0.652		NaN											0	0	0	0.01441	0	34	345				
PCNT	5116	broad.mit.edu	37	21	47847581	47847581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:47847581G>A	uc002zji.3	+	34	7473	c.7366G>A	c.(7366-7368)GTT>ATT	p.V2456I	PCNT_uc002zjj.2_Missense_Mutation_p.V2338I	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2456					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTTCTGCAGGTTGTGCAAGA	0.577		NaN											0	0	0	0.008871	0	19	86				
DGCR8	54487	broad.mit.edu	37	22	20074017	20074017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:20074017G>C	uc002zri.2	+	2	881	c.531G>C	c.(529-531)GAG>GAC	p.E177D	DGCR8_uc010grz.2_Missense_Mutation_p.E177D|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	177	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TAGGGGGTGAGAGTGCTGATA	0.537		NaN											0	0	0	0.01441	0	68	471				
TOM1	10043	broad.mit.edu	37	22	35719129	35719129	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:35719129C>A	uc003ann.2	+	4	450	c.325C>A	c.(325-327)CCA>ACA	p.P109T	TOM1_uc011ami.1_Missense_Mutation_p.P76T|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.P71T|TOM1_uc003anp.2_Missense_Mutation_p.P109T|TOM1_uc011aml.1_Missense_Mutation_p.P109T|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.P103T|TOM1_uc003anr.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	109	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CAAGAACAACCCACCCACCAT	0.602		NaN											1	0	4.68919e-08	0.008291	5.24909e-08	8	67				
IL17RE	132014	broad.mit.edu	37	3	9956436	9956436	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:9956436C>G	uc003btu.2	+	16	1539	c.1422C>G	c.(1420-1422)GCC>GCG	p.A474A	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.A474A|IL17RE_uc003btx.2_Silent_p.A358A|IL17RE_uc010hcq.2_Missense_Mutation_p.P499A|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	474	Helical; (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TTGTTCTGGCCCTCACCTGCC	0.627		NaN											0	0	0	0.009096	0	3	85				
RFTN1	23180	broad.mit.edu	37	3	16450896	16450896	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:16450896C>G	uc003cay.2	-	4	709	c.427G>C	c.(427-429)GAG>CAG	p.E143Q	RFTN1_uc010hes.2_Missense_Mutation_p.E107Q	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	143						plasma membrane				ovary(3)|central_nervous_system(1)	4						TTAATGAACTCTGGGATGAGT	0.473		NaN											0	0	0	0.016723	0	10	57				
ZNF385D	79750	broad.mit.edu	37	3	21552474	21552474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:21552474C>G	uc003cce.2	-	4	726	c.318G>C	c.(316-318)AAG>AAC	p.K106N	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	106	Matrin-type 1.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						CTTTGAGCTTCTTGGCATGTT	0.458		NaN											0	0	0	0.013537	0	10	37				
XIRP1	165904	broad.mit.edu	37	3	39225689	39225689	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:39225689G>A	uc003cjk.1	-	2	5469	c.5248C>T	c.(5248-5250)CTG>TTG	p.L1750L	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Silent_p.L433L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1750	Interaction with FLNC.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTAGCTCCAGAACACTCTTT	0.562		NaN											0	0	0	0.006999	0	35	166				
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:45800488G>A	uc011bai.1	-	11	1885	c.1761C>T	c.(1759-1761)GAC>GAT	p.D587D	SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	587	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577		NaN											0	0	0	0.009096	0	4	53				
ARL13B	200894	broad.mit.edu	37	3	93714777	93714777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:93714777G>T	uc003drc.2	+	2	405	c.119G>T	c.(118-120)GGA>GTA	p.G40V	ARL13B_uc010hop.2_Nonsense_Mutation_p.E10*|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.G40V|ARL13B_uc003drg.2_Intron	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	40							GTP binding				0						ACAGCAAAGGGAATCCAAGGA	0.289		NaN											1	0	0.000978159	0.010729	0.00103692	8	39				
PLCH1	23007	broad.mit.edu	37	3	155215191	155215191	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:155215191C>T	uc011bok.1	-	14	2053	c.1776G>A	c.(1774-1776)AGG>AGA	p.R592R	PLCH1_uc011boj.1_Silent_p.R592R|PLCH1_uc011bol.1_Silent_p.R574R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	592					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGTTTTCCTTCGGCGAC	0.463		NaN											0	0	0	0.006122	0	15	82				
MFN1	55669	broad.mit.edu	37	3	179109794	179109794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:179109794G>C	uc003fjs.2	+	18	2299	c.2173G>C	c.(2173-2175)GAG>CAG	p.E725Q	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E753Q|MFN1_uc010hxc.2_Missense_Mutation_p.E467Q	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	725	Cytoplasmic (Potential).|Potential.				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACTTGAAAATGAGCTGGAGAA	0.313		NaN											0	0	0	0.004672	0	3	48				
VPS8	23355	broad.mit.edu	37	3	184714261	184714261	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:184714261G>C	uc003fpb.1	+	43	3973	c.3802G>C	c.(3802-3804)GAA>CAA	p.E1268Q	VPS8_uc010hyd.1_Missense_Mutation_p.E1178Q|VPS8_uc010hye.1_Missense_Mutation_p.E697Q	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1270	RING-type; atypical.						zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGACGCCAAGAAATGGCTGA	0.418		NaN											0	0	0	0.009096	0	4	42				
MAP3K13	9175	broad.mit.edu	37	3	185200201	185200201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:185200201C>G	uc010hyf.2	+	15	3124	c.2858C>G	c.(2857-2859)GCC>GGC	p.A953G	MAP3K13_uc011brt.1_Missense_Mutation_p.A746G|MAP3K13_uc011bru.1_Missense_Mutation_p.A809G|MAP3K13_uc003fpi.2_Missense_Mutation_p.A953G|MAP3K13_uc010hyg.2_Missense_Mutation_p.A643G	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	953					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTCTGATGCCACAGTTAGG	0.433		NaN											0	0	0	0.001168	0	4	245				
TNK2	10188	broad.mit.edu	37	3	195610067	195610067	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:195610067G>A	uc003fvu.1	-	5	1113	c.570C>T	c.(568-570)ATC>ATT	p.I190I	TNK2_uc003fvs.1_Silent_p.I222I|TNK2_uc003fvt.1_Silent_p.I253I|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.I20I|TNK2_uc010hzx.1_Silent_p.I204I	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	190	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGTAGAGGCGGATGAGGTTTC	0.632		NaN											0	0	0	0.008871	0	17	96				
SLC4A4	8671	broad.mit.edu	37	4	72400084	72400084	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72400084C>T	uc003hfy.2	+	18	2538	c.2421C>T	c.(2419-2421)AAC>AAT	p.N807N	SLC4A4_uc010iic.2_Silent_p.N807N|SLC4A4_uc010iib.2_Silent_p.N807N|SLC4A4_uc003hfz.2_Silent_p.N807N|SLC4A4_uc003hgc.3_Silent_p.N763N|SLC4A4_uc010iid.2_Silent_p.N11N	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	807	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATTGTAAACAGGAAAGAAC	0.383		NaN											0	0	0	0.00308	0	7	47				
SLC4A4	8671	broad.mit.edu	37	4	72412136	72412136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72412136C>T	uc003hfy.2	+	19	2629	c.2512C>T	c.(2512-2514)CTT>TTT	p.L838F	SLC4A4_uc010iic.2_Missense_Mutation_p.L838F|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Missense_Mutation_p.L838F|SLC4A4_uc003hgc.3_Missense_Mutation_p.L794F|SLC4A4_uc010iid.2_Missense_Mutation_p.L42F	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	838	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCTCATGGCTCTTCCGTGGTA	0.463		NaN											0	0	0	0.014323	0	17	104				
HERC5	51191	broad.mit.edu	37	4	89385092	89385092	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:89385092G>T	uc003hrt.2	+	6	1020	c.867G>T	c.(865-867)GTG>GTT	p.V289V		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	289	RCC1 4.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCTGTTTGGTGGCTGAGCTTG	0.413		NaN											1	0	3.41278e-10	0.00499	3.95303e-10	15	54				
KIAA1109	84162	broad.mit.edu	37	4	123255651	123255651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:123255651G>C	uc003ieh.2	+	67	11844	c.11799G>C	c.(11797-11799)CAG>CAC	p.Q3933H	KIAA1109_uc003iem.2_Intron	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3933					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CCACTGTCCAGAGCAAGACTA	0.408		NaN											0	0	0	0.007835	0	27	100				
PHF17	79960	broad.mit.edu	37	4	129778586	129778586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:129778586G>T	uc003igk.2	+	8	1238	c.958G>T	c.(958-960)GAG>TAG	p.E320*	PHF17_uc003igj.2_Nonsense_Mutation_p.E320*|PHF17_uc003igl.2_Nonsense_Mutation_p.E308*|PHF17_uc011cgy.1_Nonsense_Mutation_p.E320*|PHF17_uc003igm.2_Nonsense_Mutation_p.E320*	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	320	PHD-type 2; atypical.				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CCTCTGCAATGAGAAGTTTGG	0.537		NaN											1	0	2.46787e-29	0.01441	2.92633e-29	43	144				
RNF150	57484	broad.mit.edu	37	4	141888843	141888843	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:141888843G>T	uc003iio.1	-	2	1323	c.669C>A	c.(667-669)TCC>TCA	p.S223S	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Silent_p.S223S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	223	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					GCCATGCGAGGGAAATGATCA	0.423		NaN											1	0	1.99824e-07	0.00499	2.22026e-07	17	92				
GRIA2	2891	broad.mit.edu	37	4	158281083	158281083	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:158281083C>T	uc003ipm.3	+	13	2538	c.2079C>T	c.(2077-2079)ACC>ACT	p.T693T	GRIA2_uc011cit.1_Silent_p.T646T|GRIA2_uc003ipl.3_Silent_p.T693T|GRIA2_uc003ipk.3_Silent_p.T646T|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.T3T|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Silent_p.T3T|GRIA2_uc011ciy.1_Silent_p.T3T|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	693	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAATGTGGACCTACATGCGGA	0.468		NaN											0	0	0	0.001984	0	7	17				
RNASEN	29102	broad.mit.edu	37	5	31472255	31472255	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:31472255A>G	uc003jhg.2	-	16	2515	c.2156T>C	c.(2155-2157)ATT>ACT	p.I719T	RNASEN_uc003jhh.2_Missense_Mutation_p.I682T|RNASEN_uc003jhi.2_Missense_Mutation_p.I682T	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	719	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						CATATTGGCAATCTCCTCCTC	0.512		NaN											0	0	0	0.006999	0	32	130				
FST	10468	broad.mit.edu	37	5	52780943	52780943	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:52780943G>C	uc003jpd.2	+	5	865	c.838G>C	c.(838-840)GAT>CAT	p.D280H	FST_uc003jpc.2_Missense_Mutation_p.D280H	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	280	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTAAGTCGGATGAGCCTGT	0.522		NaN											0	0	0	0.015359	0	31	60				
ERBB2IP	55914	broad.mit.edu	37	5	65290597	65290597	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:65290597T>C	uc003juk.1	+	4	520	c.212T>C	c.(211-213)TTA>TCA	p.L71S	ERBB2IP_uc003juh.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jui.1_Missense_Mutation_p.L71S|ERBB2IP_uc003juj.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L71S|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jul.1_Missense_Mutation_p.L71S	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	71	LRR 3.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGTCAGTCTTTACACAAACTG	0.333		NaN											0	0	0	0.014758	0	5	7				
FNIP1	96459	broad.mit.edu	37	5	130987673	130987673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:130987673G>C	uc003kvs.1	-	16	3270	c.3128C>G	c.(3127-3129)CCA>CGA	p.P1043R	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.P1015R	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	1043					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCTGCTATTGGTTCATCCAA	0.363		NaN											0	0	0	0.008291	0	9	52				
PCDHGA3	56112	broad.mit.edu	37	5	140723652	140723652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:140723652G>A	uc003ljm.1	+	1	52	c.52G>A	c.(52-54)GCG>ACG	p.A18T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.A18T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	18					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGTGCGCGCTCCTGGG	0.537		NaN									OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	5	227				
PCDH1	5097	broad.mit.edu	37	5	141244926	141244926	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:141244926C>T	uc003llq.2	-	3	1087	c.970G>A	c.(970-972)GAA>AAA	p.E324K	PCDH1_uc003llp.2_Missense_Mutation_p.E324K|PCDH1_uc011dbf.1_Missense_Mutation_p.E302K	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	324	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCACAACTTCGGGCGCCTGG	0.532		NaN											0	0	0	0.016723	0	13	77				
FAT2	2196	broad.mit.edu	37	5	150889707	150889707	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:150889707G>A	uc003lue.3	-	21	11947	c.11934C>T	c.(11932-11934)TTC>TTT	p.F3978F	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.F585F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3978	Extracellular (Potential).|EGF-like 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCCAGAGAACTGTGGGG	0.522		NaN											0	0	0	0.01441	0	36	96				
HK3	3101	broad.mit.edu	37	5	176308338	176308338	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:176308338C>G	uc003mfa.2	-	18	2684	c.2592G>C	c.(2590-2592)GTG>GTC	p.V864V	HK3_uc003mez.2_Silent_p.V420V	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	864	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCACCCCCACAGACACTG	0.682		NaN											0	0	0	0.007835	0	33	237				
FOXF2	2295	broad.mit.edu	37	6	1390493	1390493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:1390493C>T	uc003mtm.2	+	1	425	c.311C>T	c.(310-312)TCG>TTG	p.S104L	FOXF2_uc003mtn.2_Missense_Mutation_p.S104L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	104	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCGCCCTACTCGTACATCGCG	0.517		NaN											0	0	0	0.00308	0	6	23				
FAM50B	26240	broad.mit.edu	37	6	3850302	3850302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:3850302G>T	uc003mvu.2	+	2	369	c.257G>T	c.(256-258)CGG>CTG	p.R86L		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	86						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GAGCGCGAGCGGCAGCTGGCC	0.532		NaN											1	0	9.31168e-06	0.016723	1.01582e-05	14	6				
KDM1B	221656	broad.mit.edu	37	6	18212781	18212781	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:18212781G>A	uc003nco.1	+	11	1395	c.1320G>A	c.(1318-1320)TTG>TTA	p.L440L	KDM1B_uc003ncn.1_Silent_p.L411L|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	643					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						ATCCACCGTTGTCAGAGAAGA	0.403		NaN											0	0	0	0.020292	0	14	142				
HLA-E	3133	broad.mit.edu	37	6	30459140	30459140	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:30459140G>C	uc003nqg.2	+	4	875	c.837G>C	c.(835-837)ACG>ACC	p.T279T	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.T320T	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						AGAGATACACGTGCCATGTGC	0.622		NaN											0	0	0	0.004672	0	3	110				
C6orf27	80737	broad.mit.edu	37	6	31734367	31734367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:31734367G>A	uc011dog.1	-	14	2295	c.2057C>T	c.(2056-2058)TCG>TTG	p.S686L	C6orf27_uc003nxd.2_Missense_Mutation_p.S361L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	686						extracellular region				ovary(3)	3						GGGCGACAGCGAGGCTGCGAG	0.692		NaN											0	0	0	0.009096	0	3	57				
ZNF76	7629	broad.mit.edu	37	6	35262967	35262967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35262967C>T	uc003oki.1	+	14	1860	c.1655C>T	c.(1654-1656)GCG>GTG	p.A552V	ZNF76_uc003okj.1_Missense_Mutation_p.A497V|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	552					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGGCCACTGCGGCCATGCAG	0.607		NaN											0	0	0	0.004482	0	7	18				
C6orf81	221481	broad.mit.edu	37	6	35716570	35716570	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35716570C>G	uc003ola.2	+	6	1054	c.1027C>G	c.(1027-1029)CTG>GTG	p.L343V	C6orf81_uc003olb.1_Missense_Mutation_p.L306V	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	316	ARM 3.						binding			ovary(1)	1						CATTGTCAGCCTGCAGTATCC	0.532		NaN											0	0	0	0.012213	0	30	85				
NFYA	4800	broad.mit.edu	37	6	41051837	41051837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:41051837C>T	uc003opo.2	+	4	393	c.215C>T	c.(214-216)TCA>TTA	p.S72L	NFYA_uc003opp.2_Missense_Mutation_p.S43L|NFYA_uc003opq.2_Missense_Mutation_p.S43L	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	72	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTAATCACATCAACTGGCCAA	0.453		NaN											0	0	0	0.010729	0	10	58				
GSTA1	2938	broad.mit.edu	37	6	52659018	52659018	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52659018G>C	uc003paz.2	-	5	431	c.319C>G	c.(319-321)CTC>GTC	p.L107V		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	107	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGCAGAAGGAGGATCATTTCA	0.378		NaN											0	0	0	0.008871	0	20	83				
GSTA5	221357	broad.mit.edu	37	6	52701126	52701126	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52701126A>C	uc003pba.1	-	4	250	c.180T>G	c.(178-180)ATT>ATG	p.I60M		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	60	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCATCCCGTCAATCTCAACCA	0.433		NaN											0	0	0	0.016723	0	13	72				
TINAG	27283	broad.mit.edu	37	6	54173466	54173466	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:54173466A>C	uc003pcj.2	+	1	264	c.118A>C	c.(118-120)ACC>CCC	p.T40P	TINAG_uc003pci.2_Missense_Mutation_p.T40P|TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	40					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAGGAATCACACCGTTTTGCA	0.398		NaN											0	0	0	0.016522	0	22	46				
ENPP1	5167	broad.mit.edu	37	6	132207839	132207839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:132207839G>A	uc011ecf.1	+	24	2602	c.2582G>A	c.(2581-2583)AGG>AAG	p.R861K		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	861	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCCTCACAGGACTGATAAC	0.388		NaN											0	0	0	0.008871	0	16	40				
PBOV1	59351	broad.mit.edu	37	6	138539184	138539184	+	Missense_Mutation	SNP	G	G	C	rs67796103		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:138539184G>C	uc003qhv.2	-	1	444	c.349C>G	c.(349-351)CTA>GTA	p.L117V	KIAA1244_uc003qhu.2_Intron	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	117						cytoplasm|nucleus					0	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCCAGACCTAGGGTCTGAGTT	0.388		NaN											0	0	0	0.010729	0	9	34				
TCP1	6950	broad.mit.edu	37	6	160210477	160210477	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:160210477G>A	uc003qsr.2	-	1	259	c.24C>T	c.(22-24)TTC>TTT	p.F8F	TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Silent_p.F8F|TCP1_uc003qst.2_5'UTR|TCP1_uc010kka.1_RNA|MRPL18_uc010kkb.2_5'Flank|MRPL18_uc003qsw.3_5'Flank	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	8					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGCGGTCACCGAACACGGACA	0.677		NaN											0	0	0	0.016723	0	11	59				
PDE10A	10846	broad.mit.edu	37	6	165746546	165746546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:165746546C>T	uc003qun.2	-	23	2549	c.2308G>A	c.(2308-2310)GTG>ATG	p.V770M	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V700M|PDE10A_uc003quo.2_Missense_Mutation_p.V780M	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	770					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCTGAGCCACGGATGGGGAT	0.498		NaN											0	0	0	0.004656	0	21	113				
MLLT4	4301	broad.mit.edu	37	6	168272964	168272964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:168272964C>G	uc003qwd.2	+	4	624	c.482C>G	c.(481-483)TCA>TGA	p.S161*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.S161*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S162*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	162	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAACTCTCTCaaagaaagaa	0.333		NaN	T	MLL	AL								0	0	0	0.00308	0	7	32				
TTYH3	80727	broad.mit.edu	37	7	2687635	2687635	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:2687635C>G	uc003smp.2	+	5	856	c.669C>G	c.(667-669)ATC>ATG	p.I223M	TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.I52M	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	223	Helical; Name=3; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACGTCATCATCTGCCTCCTGG	0.701		NaN											0	0	0	0.00874	0	31	158				
ZDHHC4	55146	broad.mit.edu	37	7	6624725	6624725	+	Missense_Mutation	SNP	G	G	C	rs141408179		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:6624725G>C	uc003sqi.2	+	8	933	c.575G>C	c.(574-576)AGG>ACG	p.R192T	ZDHHC4_uc003sql.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R192T	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	192	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGAACATCAGGTACTTCCTC	0.537		NaN											0	0	0	0.003163	0	12	61				
SCIN	85477	broad.mit.edu	37	7	12668812	12668812	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:12668812C>G	uc003ssn.3	+	9	1494	c.1284C>G	c.(1282-1284)CTC>CTG	p.L428L	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Silent_p.L181L	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	428	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCATACTCTACACCTATC	0.418		NaN											0	0	0	0.009535	0	24	98				
C7orf36	57002	broad.mit.edu	37	7	39612143	39612143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:39612143G>C	uc003thc.3	+	3	528	c.519G>C	c.(517-519)AAG>AAC	p.K173N		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	173											0						ACTGTAGCAAGAGCCATAGTG	0.393		NaN											0	0	0	0.020292	0	13	100				
PSPH	5723	broad.mit.edu	37	7	56082826	56082826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:56082826C>T	uc003trg.2	-	6	823	c.460G>A	c.(460-462)GAA>AAA	p.E154K	PSPH_uc003trh.2_Missense_Mutation_p.E154K|PSPH_uc003tri.2_Missense_Mutation_p.E154K|PSPH_uc003trj.2_Missense_Mutation_p.E183K	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	154					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCACCAGATTCAGCTGTTGGC	0.363		NaN											0	0	0	0.001984	0	7	37				
SEMA3D	223117	broad.mit.edu	37	7	84671545	84671545	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:84671545G>C	uc003uic.2	-	8	958	c.918C>G	c.(916-918)GCC>GCG	p.A306A	SEMA3D_uc010led.2_Silent_p.A306A|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	306	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AAATCAGTCTGGCCTTAAGAA	0.383		NaN											0	0	0	0.01441	0	65	81				
PTCD1	26024	broad.mit.edu	37	7	99022928	99022928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99022928C>G	uc003uqh.2	-	6	1358	c.1227G>C	c.(1225-1227)AAG>AAC	p.K409N	PTCD1_uc011kiw.1_Missense_Mutation_p.K458N	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	409										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGTTGGGCCTTGCCGGGCA	0.637		NaN											0	0	0	0.006999	0	32	107				
ZNF498	221785	broad.mit.edu	37	7	99220228	99220228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99220228G>C	uc003url.1	+	6	973	c.646G>C	c.(646-648)GAG>CAG	p.E216Q	ZNF498_uc003urm.1_Missense_Mutation_p.E52Q|ZNF498_uc010lge.1_Missense_Mutation_p.E52Q|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	216					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGAGACCAAGAGATGGCAGC	0.532		NaN											0	0	0	0.007291	0	30	85				
ZNF498	221785	broad.mit.edu	37	7	99227017	99227017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227017G>A	uc003url.1	+	8	1336	c.1009G>A	c.(1009-1011)GAA>AAA	p.E337K	ZNF498_uc003urm.1_Missense_Mutation_p.E173K|ZNF498_uc010lge.1_Missense_Mutation_p.E173K|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.E265K|ZNF498_uc003uro.1_Missense_Mutation_p.E121K	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	337					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CCTGCCTGACGAAGTCAAAAC	0.632		NaN											0	0	0	0.003163	0	13	32				
ZNF498	221785	broad.mit.edu	37	7	99227062	99227062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227062G>T	uc003url.1	+	8	1381	c.1054G>T	c.(1054-1056)GAG>TAG	p.E352*	ZNF498_uc003urm.1_Nonsense_Mutation_p.E188*|ZNF498_uc010lge.1_Nonsense_Mutation_p.E188*|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Nonsense_Mutation_p.E280*|ZNF498_uc003uro.1_Nonsense_Mutation_p.E136*	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	352	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CCAGTGCCCTGAGTGTGGGAA	0.587		NaN											1	0	1.5842e-08	0.016723	1.78669e-08	13	44				
MUC17	140453	broad.mit.edu	37	7	100684992	100684992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:100684992C>G	uc003uxp.1	+	3	10348	c.10295C>G	c.(10294-10296)ACT>AGT	p.T3432S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3432	Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGTGACCACTTCTACTGAA	0.488		NaN											0	0	0	0.001168	0	4	286				
CNTNAP2	26047	broad.mit.edu	37	7	147600711	147600711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:147600711G>A	uc003weu.1	+	14	2669	c.2153G>A	c.(2152-2154)TGG>TAG	p.W718*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	718	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACTACTACTGGGGAGGCTCT	0.507		NaN								HNSCC(39;0.1)			0	0	0	0.001168	0	4	25				
SSPO	23145	broad.mit.edu	37	7	149489422	149489422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:149489422G>A	uc010lpk.2	+	38	5575	c.5575G>A	c.(5575-5577)GAG>AAG	p.E1859K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1859	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGCAGCGAGGGGTGGTG	0.687		NaN											0	0	0	0.00308	0	5	9				
UBE3C	9690	broad.mit.edu	37	7	157000422	157000422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:157000422G>C	uc010lqs.2	+	13	1914	c.1602G>C	c.(1600-1602)ATG>ATC	p.M534I	UBE3C_uc003wng.2_Missense_Mutation_p.M534I	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	534					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AATCATCAATGATGCCTTTTA	0.373		NaN											0	0	0	0.008291	0	8	46				
CHRNB3	1142	broad.mit.edu	37	8	42586933	42586933	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:42586933G>T	uc003xpi.1	+	5	611	c.483G>T	c.(481-483)CCG>CCT	p.P161P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	161	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTTTTTCCCGTTCGACCGAC	0.488		NaN											1	0	0.00024832	0.009096	0.000267011	3	41				
PRKDC	5591	broad.mit.edu	37	8	48846651	48846651	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:48846651C>G	uc003xqi.2	-	15	1555	c.1498_splice	c.e15-1	p.G500_splice	PRKDC_uc003xqj.2_Splice_Site_p.G500_splice|PRKDC_uc011ldh.1_Splice_Site_p.G500_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACTCAGGGCCCTGGCCAGAAA	0.473		NaN						NHEJ					0	0	0	0.009096	0	3	159				
MSC	9242	broad.mit.edu	37	8	72755904	72755904	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:72755904G>A	uc003xyx.1	-	1	828	c.510C>T	c.(508-510)AAC>AAT	p.N170N	uc011lff.1_RNA|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	170					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCACGTAGCCGTTCTCATAGC	0.662		NaN									OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.021523	0	22	85				
CDH17	1015	broad.mit.edu	37	8	95186397	95186397	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:95186397G>A	uc003ygh.2	-	6	641	c.516C>T	c.(514-516)CCC>CCT	p.P172P	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.P172P	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	172	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTTGATCATGGGAAGCTGGA	0.488		NaN											0	0	0	0.00623	0	37	340				
RGS22	26166	broad.mit.edu	37	8	101078419	101078419	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101078419A>C	uc003yjb.1	-	7	895	c.700T>G	c.(700-702)TCA>GCA	p.S234A	RGS22_uc003yja.1_Missense_Mutation_p.S53A|RGS22_uc003yjc.1_Missense_Mutation_p.S222A|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	234					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATAGCTGGTGATTTAAGTTTG	0.338		NaN											0	0	0	0.010729	0	10	92				
PABPC1	26986	broad.mit.edu	37	8	101721413	101721413	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101721413A>G	uc003yjs.1	-	9	1788	c.1284T>C	c.(1282-1284)ATT>ATC	p.I428I	PABPC1_uc011lhc.1_Silent_p.I396I|PABPC1_uc011lhd.1_Silent_p.I383I|PABPC1_uc003yjt.1_Silent_p.I425I|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	428				I -> V (in Ref. 1; CAA68428).	mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTAGTTGAGCAATTTGGCTAG	0.393		NaN											0	0	0	0.01441	0	49	280				
ZFPM2	23414	broad.mit.edu	37	8	106813404	106813404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:106813404G>A	uc003ymd.2	+	8	1117	c.1094G>A	c.(1093-1095)TGT>TAT	p.C365Y	ZFPM2_uc011lhs.1_Missense_Mutation_p.C96Y|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	365	C2H2-type 3.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCCTTCCGATGTAATCACTGC	0.502		NaN											0	0	0	0.011902	0	41	344				
CSMD3	114788	broad.mit.edu	37	8	113358438	113358438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:113358438C>G	uc003ynu.2	-	41	6489	c.6330G>C	c.(6328-6330)CAG>CAC	p.Q2110H	CSMD3_uc003yns.2_Missense_Mutation_p.Q1312H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2070H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2006H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2110	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACCACCACACTGAGCTGCAA	0.383		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.009096	0	4	81				
ZHX2	22882	broad.mit.edu	37	8	123963985	123963985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:123963985G>C	uc003ypk.1	+	3	802	c.235G>C	c.(235-237)GAG>CAG	p.E79Q		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	79	C2H2-type 1.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGTGGTTATGAGTGCAAATA	0.483		NaN											0	0	0	0.006214	0	7	94				
ADCY8	114	broad.mit.edu	37	8	131848566	131848566	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:131848566C>T	uc003ytd.3	-	12	2888	c.2632G>A	c.(2632-2634)GCA>ACA	p.A878T	ADCY8_uc010mds.2_Missense_Mutation_p.A747T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	878	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAGGCCTGCGTAGACGGTC	0.542		NaN								HNSCC(32;0.087)			0	0	0	0.01892	0	22	163				
CYP11B2	1585	broad.mit.edu	37	8	143993439	143993439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:143993439C>G	uc003yxk.1	-	9	1472	c.1469G>C	c.(1468-1470)AGG>ACG	p.R490T		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	490					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CGTGCCAGGCCTCAATATGAA	0.562		NaN							Familial_Hyperaldosteronism_type_I				0	0	0	0.006122	0	14	147				
NFKBIL2	4796	broad.mit.edu	37	8	145665527	145665527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:145665527C>T	uc011llg.1	-	11	1372	c.1357G>A	c.(1357-1359)GAA>AAA	p.E453K		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	453	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGTCTGGTTTCGGTCTCAGGG	0.522		NaN											0	0	0	0.01441	0	32	112				
PTPRD	5789	broad.mit.edu	37	9	8500765	8500765	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:8500765G>C	uc003zkk.2	-	23	2828	c.2117C>G	c.(2116-2118)ACC>AGC	p.T706S	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T706S|PTPRD_uc003zkm.2_Missense_Mutation_p.T693S|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	706	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCTTCATTGGTTCGAATCAA	0.478		NaN								TSP Lung(15;0.13)			0	0	0	0.013726	0	29	51				
UBAP2	55833	broad.mit.edu	37	9	33941739	33941739	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:33941739T>C	uc003ztq.1	-	16	1950	c.1837A>G	c.(1837-1839)ATG>GTG	p.M613V	UBAP2_uc011loc.1_Missense_Mutation_p.M522V|UBAP2_uc011lod.1_Missense_Mutation_p.M346V|UBAP2_uc011loe.1_Missense_Mutation_p.M368V|UBAP2_uc011lof.1_Missense_Mutation_p.M538V|UBAP2_uc011log.1_Missense_Mutation_p.M559V|UBAP2_uc003ztr.2_Missense_Mutation_p.M485V|UBAP2_uc003zts.2_Missense_Mutation_p.M246V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	613										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GAGGAAGACATTGCTACTGGA	0.463		NaN											0	0	0	0.001984	0	7	54				
ALDH1A1	216	broad.mit.edu	37	9	75526950	75526950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:75526950C>G	uc004ajd.2	-	10	1177	c.1124G>C	c.(1123-1125)TGG>TCG	p.W375S	ALDH1A1_uc011lsh.1_Missense_Mutation_p.W296S|ALDH1A1_uc011lsg.1_Missense_Mutation_p.W201S	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	375					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTATTCCCCCACGGGCCTCC	0.433		NaN											0	0	0	0.012319	0	18	70				
CDC14B	8555	broad.mit.edu	37	9	99327675	99327675	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:99327675T>A	uc004awj.2	-	2	703	c.251A>T	c.(250-252)AAC>ATC	p.N84I	CDC14B_uc004awk.2_Missense_Mutation_p.N84I|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.N47I	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	84	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CAATACTTACTTCTCATATTC	0.313		NaN											0	0	0	0.00308	0	7	40				
ZNF483	158399	broad.mit.edu	37	9	114296106	114296106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:114296106G>T	uc004bff.2	+	4	813	c.589G>T	c.(589-591)GAA>TAA	p.E197*	ZNF483_uc011lwq.1_Nonsense_Mutation_p.E197*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.E197*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	197	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GCTATATAAGGAAGTGCTACT	0.398		NaN											1	0	0.000673444	0.008291	0.00071643	9	29				
GLE1	2733	broad.mit.edu	37	9	131286012	131286012	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131286012C>A	uc004bvj.2	+	6	898	c.784C>A	c.(784-786)CTG>ATG	p.L262M	GLE1_uc004bvi.2_Missense_Mutation_p.L262M|GLE1_uc010myd.2_Missense_Mutation_p.L8M	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	262	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						CAGCCAGCAGCTGGATGCCTC	0.612		NaN											1	0	1.12685e-05	0.004482	1.22484e-05	8	35				
SPTAN1	6709	broad.mit.edu	37	9	131387392	131387392	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131387392G>A	uc004bvl.3	+	46	6101	c.5988G>A	c.(5986-5988)GAG>GAA	p.E1996E	SPTAN1_uc004bvm.3_Silent_p.E2001E|SPTAN1_uc004bvn.3_Silent_p.E1976E|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1996	Spectrin 21.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GTGAAAAGGAGAACAGCTTGA	0.448		NaN											0	0	0	0.004482	0	7	48				
TBC1D13	54662	broad.mit.edu	37	9	131553894	131553894	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131553894G>C	uc010myj.2	+	5	345	c.222G>C	c.(220-222)CTG>CTC	p.L74L	TBC1D13_uc010myk.2_Silent_p.L74L|TBC1D13_uc010myl.2_Intron	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	74	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						CCCAGTTCCTGAGGGAAATGA	0.577		NaN											0	0	0	0.003163	0	15	65				
PNPLA7	375775	broad.mit.edu	37	9	140354928	140354928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140354928C>A	uc004cnf.2	-	34	4208	c.3871G>T	c.(3871-3873)GAG>TAG	p.E1291*	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Nonsense_Mutation_p.E538*|PNPLA7_uc004cne.1_Nonsense_Mutation_p.E557*|PNPLA7_uc011mfa.1_Nonsense_Mutation_p.E699*|PNPLA7_uc010ncj.1_Nonsense_Mutation_p.E1316*|NELF_uc011mey.1_5'Flank|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1291					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GACTCGTCCTCCTGCAAGCAG	0.637		NaN											1	0	3.65163e-15	0.00632	4.27925e-15	25	28				
PNPLA7	375775	broad.mit.edu	37	9	140437237	140437237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140437237C>T	uc004cnf.2	-	6	785	c.448G>A	c.(448-450)GAG>AAG	p.E150K	PNPLA7_uc010ncj.1_Missense_Mutation_p.E175K	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	150	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCGGCTTCTCAAAGTGGCCC	0.622		NaN											0	0	0	0.00499	0	12	71				
IQSEC2	23096	broad.mit.edu	37	X	53270978	53270978	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:53270978A>T	uc004dsd.2	-	10	3204	c.3003T>A	c.(3001-3003)AAT>AAA	p.N1001K	IQSEC2_uc004dsc.2_Missense_Mutation_p.N796K	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	991	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						CAAGGAGATCATTGAAGAGGA	0.557		NaN											0	0	0	0.008291	0	9	29				
HEPH	9843	broad.mit.edu	37	X	65476064	65476064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:65476064G>A	uc011moz.1	+	17	2857	c.2797G>A	c.(2797-2799)GAA>AAA	p.E933K	HEPH_uc004dwn.2_Missense_Mutation_p.E933K|HEPH_uc004dwo.2_Missense_Mutation_p.E663K|HEPH_uc010nkr.2_Missense_Mutation_p.E741K|HEPH_uc011mpa.1_Missense_Mutation_p.E933K|HEPH_uc010nks.2_Missense_Mutation_p.E222K	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	930	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GATTTTTGATGAAAATAAGTC	0.473		NaN											0	0	0	0.016723	0	13	25				
ARMCX1	51309	broad.mit.edu	37	X	100808026	100808026	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:100808026G>C	uc004ehv.2	+	4	484	c.113G>C	c.(112-114)TGG>TCG	p.W38S	ARMCX1_uc004ehw.2_Missense_Mutation_p.W38S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	38						integral to membrane	binding			ovary(3)|pancreas(1)	4						GAGAAAATCTGGGACGAAGAC	0.567		NaN											0	0	0	0.006214	0	9	26				
MORF4L2	9643	broad.mit.edu	37	X	102931203	102931203	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:102931203T>C	uc004ekw.2	-	4	1985	c.753A>G	c.(751-753)TTA>TTG	p.L251L	MORF4L2_uc004ela.2_Silent_p.L251L|MORF4L2_uc004ekx.2_Silent_p.L251L|MORF4L2_uc004elb.2_Silent_p.L251L|MORF4L2_uc004eky.2_Silent_p.L251L|MORF4L2_uc010nos.2_Silent_p.L251L|MORF4L2_uc004ekz.2_Silent_p.L251L|MORF4L2_uc011mry.1_Silent_p.L251L|MORF4L2_uc011mrz.1_Silent_p.L251L|MORF4L2_uc004elc.2_Silent_p.L251L|MORF4L2_uc004elf.2_Silent_p.L251L|MORF4L2_uc004ele.2_Silent_p.L251L|MORF4L2_uc011msa.1_Silent_p.L251L|MORF4L2_uc011msb.1_Silent_p.L251L|MORF4L2_uc011msc.1_Silent_p.L251L|MORF4L2_uc011msd.1_Silent_p.L251L|MORF4L2_uc004eld.2_Silent_p.L251L	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	251					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0						AGCCCAACAATAATGCAAGGC	0.423		NaN											0	0	0	0.009096	0	4	32				
H6PD	9563	broad.mit.edu	37	1	9324741	9324741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:9324741G>T	uc001apt.2	+	5	2462	c.2189G>T	c.(2188-2190)AGC>ATC	p.S730I		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	730	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGCCGCATGAGCCTTAGCCTG	0.652		NaN											1	0	3.27435e-08	0.00245	3.62959e-08	8	27				
DDI2	84301	broad.mit.edu	37	1	15978267	15978267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:15978267C>G	uc001awx.1	+	8	1156	c.1060C>G	c.(1060-1062)CCT>GCT	p.P354A	DDI2_uc009voj.1_Missense_Mutation_p.P95A	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	354					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CACCTTTCTTCCTGAGGGAGA	0.502		NaN											0	0	0	0.010729	0	9	50				
GRHL3	57822	broad.mit.edu	37	1	24668758	24668758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:24668758G>T	uc001biy.2	+	9	1262	c.1216G>T	c.(1216-1218)GAC>TAC	p.D406Y	GRHL3_uc001bix.2_Missense_Mutation_p.D401Y|GRHL3_uc001biz.2_Missense_Mutation_p.D308Y	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	401					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATCTTCTGTGACAAGGTGGC	0.577		NaN											1	0	2.43468e-25	0.01441	3.16105e-25	41	30				
EXTL1	2134	broad.mit.edu	37	1	26349272	26349272	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:26349272C>T	uc001blf.2	+	1	1002	c.135C>T	c.(133-135)GGC>GGT	p.G45G		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	45	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCAAGGCTGGCCCCGCT	0.652		NaN											0	0	0	0.004482	0	7	9				
UBXN11	91544	broad.mit.edu	37	1	26610895	26610895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:26610895G>A	uc001blw.2	-	12	1204	c.931C>T	c.(931-933)CAG>TAG	p.Q311*	UBXN11_uc001blz.1_Nonsense_Mutation_p.Q278*|UBXN11_uc001blv.2_Nonsense_Mutation_p.Q273*|UBXN11_uc001bly.2_Nonsense_Mutation_p.Q191*|UBXN11_uc001blx.2_Nonsense_Mutation_p.Q69*|UBXN11_uc001bma.2_Nonsense_Mutation_p.Q278*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.Q311*|UBXN11_uc010ofb.1_3'UTR|UBXN11_uc010ofc.1_3'UTR	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	311						cytoplasm|cytoskeleton				ovary(1)	1						TGCATCAGCTGCCTGCCCACC	0.627		NaN											0	0	0	0.00499	0	14	33				
GRIK3	2899	broad.mit.edu	37	1	37270762	37270762	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:37270762C>T	uc001caz.2	-	15	2526	c.2391G>A	c.(2389-2391)GAG>GAA	p.E797E	GRIK3_uc001cba.1_Silent_p.E797E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	797	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCCACCACTTCTCCTTCATGA	0.602		NaN											0	0	0	0.014323	0	20	62				
MACF1	23499	broad.mit.edu	37	1	39802313	39802313	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:39802313C>A	uc010oiu.1	+	1	5504	c.5373C>A	c.(5371-5373)TTC>TTA	p.F1791L	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3356					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAGCCCTTCAGAGCAACTC	0.418		NaN											1	0	9.31168e-06	0.001855	9.90156e-06	12	10				
PTPRF	5792	broad.mit.edu	37	1	44086245	44086245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:44086245G>T	uc001cjr.2	+	31	5699	c.5359G>T	c.(5359-5361)GCC>TCC	p.A1787S	PTPRF_uc001cjs.2_Missense_Mutation_p.A1778S|PTPRF_uc001cju.2_Missense_Mutation_p.A1176S|PTPRF_uc009vwt.2_Missense_Mutation_p.A1347S|PTPRF_uc001cjv.2_Missense_Mutation_p.A1258S|PTPRF_uc001cjw.2_Missense_Mutation_p.A1013S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1787	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCACGGATGCCCGGGTGAG	0.552		NaN											1	0	3.07415e-52	0.01441	4.17588e-52	113	126				
PODN	127435	broad.mit.edu	37	1	53540317	53540317	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:53540317A>G	uc001cuv.2	+	4	597	c.590A>G	c.(589-591)AAT>AGT	p.N197S	PODN_uc001cuw.2_Missense_Mutation_p.N178S|PODN_uc010onr.1_Missense_Mutation_p.N178S|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	149	LRR 3.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						ACCAACCTCAATTACCTGTAC	0.562		NaN											0	0	0	0.01441	0	50	192				
USP24	23358	broad.mit.edu	37	1	55562240	55562240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:55562240C>A	uc001cyg.3	-	47	5512	c.5512G>T	c.(5512-5514)GAC>TAC	p.D1838Y		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1998					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TCATTTAGGTCAAATTCTTCT	0.323		NaN											1	0	1.36615e-20	0.013726	1.69865e-20	28	11				
PRKAA2	5563	broad.mit.edu	37	1	57169954	57169954	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:57169954C>A	uc001cyk.3	+	7	1170	c.1099C>A	c.(1099-1101)CCA>ACA	p.P367T		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	367					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						GAAACCTCATCCAGAAAGGAT	0.468		NaN											1	0	1.96642e-18	0.006999	2.39434e-18	36	20				
GPSM2	29899	broad.mit.edu	37	1	109439511	109439511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:109439511G>T	uc010ovc.1	+	3	578	c.82G>T	c.(82-84)GCC>TCC	p.A28S	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.A28S|GPSM2_uc010ove.1_Missense_Mutation_p.A28S	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	28	TPR 1.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCTAGAGCTGGCCTTGGAAGG	0.418		NaN											1	0	2.79147e-13	0.01441	3.27997e-13	40	135				
OR10T2	128360	broad.mit.edu	37	1	158369175	158369175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:158369175G>A	uc010pih.1	-	1	82	c.82C>T	c.(82-84)CTT>TTT	p.L28F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					ATGACAAAAAGCAGCAGCTGG	0.488		NaN											0	0	0	0.00308	0	6	27				
ATP1A2	477	broad.mit.edu	37	1	160109741	160109741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:160109741G>A	uc001fvc.2	+	22	3133	c.3001G>A	c.(3001-3003)GTC>ATC	p.V1001I	ATP1A2_uc001fvd.2_Missense_Mutation_p.V720I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	1001	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTATGATGAGGTCCGAAAGCT	0.582		NaN											0	0	0	0.011902	0	33	68				
LMX1A	4009	broad.mit.edu	37	1	165175152	165175152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:165175152G>A	uc001gcy.1	-	7	1158	c.937C>T	c.(937-939)CGA>TGA	p.R313*	LMX1A_uc001gcz.1_Nonsense_Mutation_p.R313*|LMX1A_uc001gcw.1_Nonsense_Mutation_p.R31*|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R64*	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					AGACCCTGTCGGAAGGGATCT	0.582		NaN											0	0	0	0.010504	0	18	56				
LRRC52	440699	broad.mit.edu	37	1	165532872	165532872	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:165532872C>T	uc001gde.2	+	2	809	c.753C>T	c.(751-753)ATC>ATT	p.I251I	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	251	Helical; (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGCTGCTCATCGGCTTCTGCA	0.587		NaN											0	0	0	0.003163	0	13	35				
FMO3	2328	broad.mit.edu	37	1	171073019	171073019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:171073019G>A	uc001ghi.2	+	3	337	c.226G>A	c.(226-228)GAT>AAT	p.D76N	FMO3_uc001ghh.2_Missense_Mutation_p.D76N|FMO3_uc010pmb.1_Missense_Mutation_p.D56N|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	76					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCATTTCCCGATGACTTCCC	0.423		NaN											0	0	0	0.012213	0	31	20				
FMO2	2327	broad.mit.edu	37	1	171162520	171162520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:171162520C>T	uc001ghk.1	+	3	296	c.179C>T	c.(178-180)ACC>ATC	p.T60I	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	60					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGTCGTTACCAACACCAGC	0.348		NaN											0	0	0	0.01441	0	75	62				
KDM5B	10765	broad.mit.edu	37	1	202709880	202709880	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:202709880T>C	uc001gyf.2	-	20	3122	c.3006A>G	c.(3004-3006)GCA>GCG	p.A1002A	KDM5B_uc009xag.2_Silent_p.A1038A|KDM5B_uc001gyg.1_Silent_p.A844A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1002					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						TGGGCAGATATGCAGGGATCT	0.443		NaN											0	0	0	0.001855	0	11	47				
MDM4	4194	broad.mit.edu	37	1	204511994	204511994	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:204511994G>A	uc001hba.2	+	8	756	c.594G>A	c.(592-594)CTG>CTA	p.L198L	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.L71L|MDM4_uc001hay.1_Silent_p.L198L|MDM4_uc001hbb.2_Silent_p.L71L|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	198					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TAGCTGGCCTGCCTTGGTGGT	0.388		NaN	A		GBM|bladder|retinoblastoma								0	0	0	0.00278	0	19	39				
SRGAP2	23380	broad.mit.edu	37	1	206626557	206626557	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:206626557A>G	uc001hdy.2	+	17	2263	c.1930A>G	c.(1930-1932)ATC>GTC	p.I644V	SRGAP2_uc010prt.1_Missense_Mutation_p.I567V|SRGAP2_uc001hdx.2_Missense_Mutation_p.I644V|SRGAP2_uc010pru.1_Missense_Mutation_p.I567V|SRGAP2_uc010prv.1_Missense_Mutation_p.I568V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	731	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					ATGTGAGCCCATCGAGGCCAT	0.522		NaN											0	0	0	0.004672	0	2	2				
MYO3A	53904	broad.mit.edu	37	10	26463335	26463335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:26463335C>T	uc001isn.2	+	30	4502	c.4142C>T	c.(4141-4143)ACA>ATA	p.T1381I	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1381					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGGATTGTCACAACACCAACA	0.398		NaN											0	0	0	0.01441	0	44	66				
ZNF25	219749	broad.mit.edu	37	10	38241661	38241661	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:38241661C>T	uc001ize.1	-	6	870	c.765G>A	c.(763-765)GAG>GAA	p.E255E	ZNF25_uc001izf.1_Silent_p.E219E	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGGTTTCTCCCCTGTGT	0.443		NaN											0	0	0	0.006999	0	36	96				
LRIT1	26103	broad.mit.edu	37	10	85997383	85997383	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:85997383G>A	uc001kcz.1	-	2	204	c.182C>T	c.(181-183)ACC>ATC	p.T61I		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	61	LRR 1.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						CAGTCTGGAGGTGTCCGGGGG	0.662		NaN											0	0	0	0.01441	0	44	9				
GRK5	2869	broad.mit.edu	37	10	121189924	121189924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:121189924G>A	uc001led.2	+	7	804	c.571G>A	c.(571-573)GTG>ATG	p.V191M	GRK5_uc009xzh.2_Missense_Mutation_p.V86M|GRK5_uc010qta.1_Missense_Mutation_p.V86M	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	191	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGTATCGAGTGCTAGGAAA	0.458		NaN											0	0	0	0.01441	0	46	54				
C10orf88	80007	broad.mit.edu	37	10	124692098	124692098	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr10:124692098C>A	uc001lgw.2	-	6	1408	c.1183G>T	c.(1183-1185)GAT>TAT	p.D395Y	C10orf88_uc001lgx.2_Missense_Mutation_p.D297Y	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	395											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TCAATGTAATCCATAAGTTTC	0.353		NaN											1	0	2.0095e-06	0.001984	2.18626e-06	6	24				
LRDD	55367	broad.mit.edu	37	11	800221	800221	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:800221C>T	uc001lro.1	-	14	2326	c.2184G>A	c.(2182-2184)GTG>GTA	p.V728V	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.V711V|LRDD_uc001lrl.1_Silent_p.V571V|LRDD_uc001lrm.1_Silent_p.V415V|LRDD_uc001lrn.1_Silent_p.V571V|LRDD_uc001lrp.1_Silent_p.V373V	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	728					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGCACAGGCACCGCGCCAC	0.687		NaN											0	0	0	0.008291	0	8	18				
ABCC8	6833	broad.mit.edu	37	11	17414623	17414623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:17414623C>A	uc001mnc.2	-	39	4787	c.4661G>T	c.(4660-4662)GGT>GTT	p.G1554V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1554	Cytoplasmic (By similarity).|ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGGATGGCACCCCGCTTCAG	0.617		NaN											1	0	7.48243e-07	0.006214	8.25526e-07	9	25				
NELL1	4745	broad.mit.edu	37	11	20940871	20940871	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:20940871G>C	uc001mqe.2	+	7	903	c.750G>C	c.(748-750)ATG>ATC	p.M250I	NELL1_uc001mqf.2_Missense_Mutation_p.M250I|NELL1_uc009yid.2_Missense_Mutation_p.M278I|NELL1_uc010rdo.1_Missense_Mutation_p.M193I|NELL1_uc010rdp.1_Missense_Mutation_p.M10I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	250					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TGGCCAAGATGACTGCAAAAG	0.323		NaN											0	0	0	0.003755	0	28	40				
MAPK8IP1	9479	broad.mit.edu	37	11	45924441	45924441	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:45924441T>C	uc001nbr.2	+	5	1293	c.1123T>C	c.(1123-1125)TCC>CCC	p.S375P		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	375					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		CAGCGCCCTGTCCTATGACTC	0.672		NaN											0	0	0	0.001984	0	5	3				
OR4C15	81309	broad.mit.edu	37	11	55322269	55322269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:55322269G>T	uc010rig.1	+	1	487	c.487G>T	c.(487-489)GTG>TTG	p.V163L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTTGCTGGGGTGGAGGTGAT	0.473		NaN								HNSCC(20;0.049)			1	0	6.21321e-17	0.00278	7.48772e-17	19	124				
STX5	6811	broad.mit.edu	37	11	62592798	62592798	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:62592798G>C	uc001nvh.2	-	7	708	c.554C>G	c.(553-555)TCT>TGT	p.S185C	STX5_uc010rmi.1_Missense_Mutation_p.S89C|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S131C|STX5_uc010rmj.1_Missense_Mutation_p.S185C|STX5_uc001nvj.2_5'UTR	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	185	Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2						ATTGGACATAGAAGCCAGTTT	0.493		NaN											0	0	0	0.01441	0	234	155				
NRXN2	9379	broad.mit.edu	37	11	64374714	64374714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64374714G>A	uc001oap.2	-	8	2466	c.1955C>T	c.(1954-1956)ACG>ATG	p.T652M	NRXN2_uc001oar.2_Missense_Mutation_p.T1698M|NRXN2_uc001oas.2_Missense_Mutation_p.T1628M|NRXN2_uc001oao.2_Missense_Mutation_p.T338M|NRXN2_uc001oaq.2_Missense_Mutation_p.T1365M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	652	Cytoplasmic (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CTTGCTGGGCGTCTTGGGGGC	0.637		NaN											0	0	0	0.008291	0	9	31				
NRXN2	9379	broad.mit.edu	37	11	64428312	64428312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64428312G>A	uc001oar.2	-	11	2537	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	NRXN2_uc001oas.2_Missense_Mutation_p.R669C|NRXN2_uc001oaq.2_Missense_Mutation_p.R367C	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCCCATTGCGACAGGGGGCA	0.647		NaN											0	0	0	0.01441	0	41	29				
SAC3D1	29901	broad.mit.edu	37	11	64811717	64811717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:64811717G>A	uc001ocm.2	+	2	984	c.595G>A	c.(595-597)GAG>AAG	p.E199K	SAC3D1_uc010rnv.1_Missense_Mutation_p.E186K	NM_013299	NP_037431			SAC3 domain containing 1												0						AGCCCTGCATGAGGTTCTACA	0.642		NaN											0	0	0	0.003163	0	14	56				
SNX32	254122	broad.mit.edu	37	11	65617466	65617466	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:65617466G>T	uc001ofr.2	+	3	344	c.217G>T	c.(217-219)GCC>TCC	p.A73S	SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.A73S	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	73	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GCTGCATGATGCCTACGTGGA	0.632		NaN											1	0	1.56738e-10	0.004289	1.78803e-10	31	22				
RBM14	10432	broad.mit.edu	37	11	66384255	66384255	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:66384255T>A	uc001oit.2	+	1	203	c.64T>A	c.(64-66)TTT>ATT	p.F22I	RBM14_uc009yrh.2_Missense_Mutation_p.F22I|RBM14_uc009yri.2_Missense_Mutation_p.F22I|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.F22I	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	22	RRM 1.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GGCAGCCCTCTTTGCGCCCTA	0.647		NaN											0	0	0	0.000602	0	4	17				
DNAJB13	374407	broad.mit.edu	37	11	73670624	73670624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:73670624G>C	uc001ouo.2	+	3	1009	c.258G>C	c.(256-258)TGG>TGC	p.W86C		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	86					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					AGACCCCATGGACAACTGGTT	0.522		NaN											0	0	0	0.01441	0	73	23				
C2CD3	26005	broad.mit.edu	37	11	73817441	73817441	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:73817441C>A	uc001ouu.2	-	13	2287	c.2060G>T	c.(2059-2061)GGT>GTT	p.G687V		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	687						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TGGAGACTGACCATTTTCTTG	0.383		NaN											1	0	2.32173e-10	0.004878	2.63579e-10	30	87				
CAPN5	726	broad.mit.edu	37	11	76796098	76796098	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:76796098G>T	uc001oxx.2	+	2	350	c.165_splice	c.e2+1	p.K55_splice	CAPN5_uc009yup.2_Splice_Site_p.K55_splice|CAPN5_uc009yuq.2_Splice_Site_p.K91_splice|CAPN5_uc001oxy.2_Splice_Site_p.K95_splice	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5						proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GCGACCCAAGGTCAGTGTCTG	0.677		NaN											1	0	8.12818e-05	0.001984	8.48944e-05	6	28				
ACAT1	38	broad.mit.edu	37	11	108009666	108009666	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:108009666T>C	uc001pjy.2	+	6	553	c.477T>C	c.(475-477)GTT>GTC	p.V159V	ACAT1_uc001pjx.2_Silent_p.V33V	NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	159					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TGTCCAATGTTCCATATGTAA	0.398		NaN											0	0	0	0.01441	0	54	171				
HINFP	25988	broad.mit.edu	37	11	118997680	118997680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:118997680G>A	uc001pvp.2	+	3	215	c.26G>A	c.(25-27)CGA>CAA	p.R9Q	HINFP_uc010rzb.1_Missense_Mutation_p.R9Q|HINFP_uc001pvq.2_Missense_Mutation_p.R9Q	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	9					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AAAGTTCCCCGAAAGGAGAAT	0.537		NaN											0	0	0	0.01441	0	80	46				
KCNH3	23416	broad.mit.edu	37	12	49944089	49944089	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:49944089G>T	uc001ruh.1	+	10	2155	c.1895G>T	c.(1894-1896)GGT>GTT	p.G632V	KCNH3_uc010smj.1_Missense_Mutation_p.G572V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	632	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GTGCTCAAGGGTGGCACCGTG	0.632		NaN											1	0	6.12954e-19	0.004656	7.5023e-19	18	78				
GTSF1	121355	broad.mit.edu	37	12	54854248	54854248	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:54854248T>C	uc001sgb.2	-	7	486	c.400A>G	c.(400-402)AGC>GGC	p.S134G		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	134							metal ion binding				0		Myeloproliferative disorder(1001;0.00452)				ACTATGTTGCTCGCAGGGCTG	0.413		NaN											0	0	0	0.008871	0	18	27				
SILV	6490	broad.mit.edu	37	12	56355112	56355112	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:56355112G>T	uc001sip.2	-	3	354	c.323C>A	c.(322-324)ACC>AAC	p.T108N	SILV_uc001siq.2_Missense_Mutation_p.T108N|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.T108N	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	108					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						ATTGATGATGGTATTGTTGAC	0.488		NaN											1	0	9.8876e-21	0.004878	1.23595e-20	32	19				
ERBB3	2065	broad.mit.edu	37	12	56481649	56481649	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:56481649T>A	uc001sjh.2	+	6	877	c.684T>A	c.(682-684)CAT>CAA	p.H228Q	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169Q|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	228	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGTGCTGCCATGATGAGTGTG	0.537		NaN											0	0	0	0.01441	0	52	121		Valid		
CEP290	80184	broad.mit.edu	37	12	88486515	88486515	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:88486515C>A	uc001tar.2	-	29	3748	c.3404G>T	c.(3403-3405)AGG>ATG	p.R1135M	CEP290_uc001taq.2_Missense_Mutation_p.R195M	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1135	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AATCCGTTGCCTATCAGCATC	0.368		NaN											1	0	1.16021e-09	0.007291	1.30454e-09	28	59				
SRRM4	84530	broad.mit.edu	37	12	119568521	119568521	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:119568521G>A	uc001txa.1	+	8	945	c.653G>A	c.(652-654)CGC>CAC	p.R218H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	218	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CAGAAGTCCCGCCGAAGGCAC	0.652		NaN											0	0	0	0.008291	0	11	10				
TCTN2	79867	broad.mit.edu	37	12	124158196	124158196	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:124158196G>T	uc001ufp.2	+	4	430	c.302G>T	c.(301-303)GGT>GTT	p.G101V	TCTN2_uc009zya.2_Missense_Mutation_p.G100V	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	101	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGAAGAGAGGTCTGGACTGG	0.433		NaN											1	0	2.48779e-11	0.005443	2.86584e-11	21	71				
TMEM132B	114795	broad.mit.edu	37	12	126135372	126135372	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr12:126135372G>T	uc001uhe.1	+	7	1780	c.1772G>T	c.(1771-1773)GGC>GTC	p.G591V	TMEM132B_uc001uhf.1_Missense_Mutation_p.G103V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	591	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACATGCTGGGCCCCGACTGG	0.597		NaN											1	0	2.21704e-12	0.00278	2.57922e-12	18	53				
CDK8	1024	broad.mit.edu	37	13	26828866	26828866	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:26828866G>T	uc001uqr.1	+	1	114	c.88G>T	c.(88-90)GGC>TGC	p.G30C	CDK8_uc001uqs.1_Missense_Mutation_p.G30C|CDK8_uc001uqt.1_Translation_Start_Site	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	30	Protein kinase.|ATP (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTTGGCCGAGGCACTTATGG	0.592		NaN											1	0	5.3912e-06	0.006122	5.81162e-06	16	21				
N4BP2L2	10443	broad.mit.edu	37	13	33096357	33096357	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:33096357T>C	uc001uuk.3	-	4	1613	c.1435A>G	c.(1435-1437)AAT>GAT	p.N479D	N4BP2L2_uc001uuj.2_5'UTR|N4BP2L2_uc010abe.1_Missense_Mutation_p.N50D|N4BP2L2_uc010tdz.1_Missense_Mutation_p.N35D	NM_014887	NP_055702	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	479											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GCTTGTATATTAGTGTTATCT	0.254		NaN											0	0	0	0.01441	0	51	68				
RB1	5925	broad.mit.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:48955538C>T	uc001vcb.2	+	17	1820	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.R552*(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.00278	0	17	24		Valid		
KLHL1	57626	broad.mit.edu	37	13	70314576	70314576	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:70314576G>A	uc001vip.2	-	8	2546	c.1752C>T	c.(1750-1752)GCC>GCT	p.A584A	KLHL1_uc010thm.1_Silent_p.A523A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	584	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGACATACTGGCTACAAATG	0.403		NaN											0	0	0	0.006999	0	31	42				
GPC5	2262	broad.mit.edu	37	13	92560246	92560246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:92560246G>A	uc010tif.1	+	6	1702	c.1336G>A	c.(1336-1338)GTC>ATC	p.V446I		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	446						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAATCCTGAAGTCAAAGTCAA	0.378		NaN											0	0	0	0.007835	0	36	38				
FAM179B	23116	broad.mit.edu	37	14	45431955	45431955	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:45431955G>A	uc001wvv.2	+	1	540	c.331G>A	c.(331-333)GAG>AAG	p.E111K	FAM179B_uc001wvw.2_Missense_Mutation_p.E111K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.E111K|FAM179B_uc001wvu.2_Missense_Mutation_p.E111K	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	111							binding			skin(2)|upper_aerodigestive_tract(1)	3						GGATCCTTCTGAGGCCTTCCA	0.622		NaN											0	0	0	0.009535	0	24	71				
SYT16	83851	broad.mit.edu	37	14	62547819	62547819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:62547819G>C	uc001xfu.1	+	4	1458	c.1261G>C	c.(1261-1263)GCC>CCC	p.A421P	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	421	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGTCACCTTTGCCAAGCTGGA	0.567		NaN											0	0	0	0.004007	0	12	10				
KIAA1409	57578	broad.mit.edu	37	14	94004365	94004365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr14:94004365G>C	uc001ybv.1	+	9	705	c.622G>C	c.(622-624)GTC>CTC	p.V208L	KIAA1409_uc001ybs.1_Missense_Mutation_p.V208L|KIAA1409_uc001ybu.1_Missense_Mutation_p.V146L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	385						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAGAGCAGTTGTCACCTGCTT	0.468		NaN											0	0	0	0.004656	0	23	22				
SHC4	399694	broad.mit.edu	37	15	49118194	49118194	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:49118194G>C	uc001zxb.1	-	12	2296	c.1867C>G	c.(1867-1869)CCA>GCA	p.P623A	SHC4_uc010uey.1_Missense_Mutation_p.P380A|SHC4_uc010uez.1_Missense_Mutation_p.P337A	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	623					intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAAAGTGCTGGATTATTATCT	0.373		NaN											0	0	0	0.01441	0	47	127				
PSTPIP1	9051	broad.mit.edu	37	15	77323595	77323595	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:77323595C>T	uc002bcf.2	+	10	1167	c.717C>T	c.(715-717)TCC>TCT	p.S239S	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_Silent_p.S117S|PSTPIP1_uc010bku.1_Silent_p.S230S|PSTPIP1_uc002bcg.2_Silent_p.S239S|PSTPIP1_uc010bkw.1_Silent_p.S239S|PSTPIP1_uc002bch.1_5'UTR|PSTPIP1_uc002bci.1_5'Flank	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	239					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1						ACCAGCTCTCCATGCAGTGTG	0.617		NaN											0	0	0	0.01441	0	65	100				
LRRK1	79705	broad.mit.edu	37	15	101595287	101595287	+	Silent	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr15:101595287T>A	uc002bwr.2	+	27	4510	c.4191T>A	c.(4189-4191)CTT>CTA	p.L1397L	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1397	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGGTCCCTTGACGTCAAGG	0.532		NaN											0	0	0	0.007291	0	22	59				
ZNF205	7755	broad.mit.edu	37	16	3168975	3168975	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:3168975G>T	uc002cub.2	+	6	689	c.554G>T	c.(553-555)CGG>CTG	p.R185L	ZNF205_uc002cua.2_Missense_Mutation_p.R185L	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	185	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GGCTCCAGCCGGCAGGCAGGA	0.667		NaN											1	0	3.09479e-21	0.006999	3.91008e-21	31	62				
ANKS3	124401	broad.mit.edu	37	16	4764077	4764077	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:4764077C>G	uc002cxj.1	-	7	979	c.684G>C	c.(682-684)CTG>CTC	p.L228L	ANKS3_uc002cxi.1_Silent_p.L155L|ANKS3_uc002cxk.2_Silent_p.L99L|ANKS3_uc002cxl.2_Silent_p.L55L|ANKS3_uc010uxs.1_Silent_p.L155L|ANKS3_uc002cxm.2_Silent_p.L22L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	228											0						GGCTCTTGGGCAGAGAGGGCG	0.607		NaN											0	0	0	0.007413	0	18	36				
RBBP6	5930	broad.mit.edu	37	16	24582981	24582981	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:24582981A>G	uc002dmh.2	+	18	5634	c.4594A>G	c.(4594-4596)AGT>GGT	p.S1532G	RBBP6_uc002dmi.2_Missense_Mutation_p.S1498G|RBBP6_uc010bxr.2_Missense_Mutation_p.S692G|RBBP6_uc002dmk.2_Missense_Mutation_p.S1365G	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1532	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAAAAAGTAATTCTAG	0.373		NaN											0	0	0	0.009096	0	3	14				
ATXN2L	11273	broad.mit.edu	37	16	28834730	28834730	+	Silent	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:28834730G>T	uc002drc.2	+	1	318	c.150G>T	c.(148-150)GGG>GGT	p.G50G	uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.G50G|ATXN2L_uc002drb.2_Silent_p.G50G|ATXN2L_uc002dqy.2_Silent_p.G50G|ATXN2L_uc002dra.2_Silent_p.G50G|ATXN2L_uc002dqz.2_Silent_p.G50G|ATXN2L_uc010vdb.1_Silent_p.G50G|ATXN2L_uc002dre.2_Silent_p.G50G	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	50	Pro-rich.					membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CTCCTCCCGGGCCTCCAGCGG	0.821		NaN											1	0	0.00909568	0.009096	0.00925318	2	2				
CPNE2	221184	broad.mit.edu	37	16	57157339	57157339	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:57157339A>G	uc002eks.1	+	10	1110	c.881A>G	c.(880-882)TAC>TGC	p.Y294C	CPNE2_uc010cct.1_Missense_Mutation_p.Y320C|CPNE2_uc010ccu.1_Missense_Mutation_p.Y294C|CPNE2_uc002ekt.1_5'Flank	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	294										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				AACCGAGACTACTCCTTCCTT	0.498		NaN											0	0	0	0.01441	0	63	72				
CES2	8824	broad.mit.edu	37	16	66969416	66969416	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:66969416C>G	uc002eqr.2	+	1	1070	c.70C>G	c.(70-72)CCC>GCC	p.P24A	CES2_uc002eqq.2_Missense_Mutation_p.P24A|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	Error:Variant_position_missing_in_O00748_after_alignment					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCCGCTGACTCCCTGCCCAGT	0.662		NaN											0	0	0	0.01441	0	46	165				
ATMIN	23300	broad.mit.edu	37	16	81076953	81076953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:81076953C>G	uc002ffz.1	+	4	868	c.850C>G	c.(850-852)CTT>GTT	p.L284V	ATMIN_uc002fga.2_Missense_Mutation_p.L126V|ATMIN_uc010vnn.1_Missense_Mutation_p.L55V|ATMIN_uc002fgb.1_Missense_Mutation_p.L126V	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	284	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0						CAAGCAGACTCTTACAACACC	0.433		NaN											0	0	0	0.003271	0	33	59				
CDH13	1012	broad.mit.edu	37	16	82891976	82891976	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:82891976C>T	uc002fgx.2	+	2	175	c.55C>T	c.(55-57)CTA>TTA	p.L19L	CDH13_uc010chh.2_Silent_p.L19L|CDH13_uc010vns.1_Silent_p.L66L|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.L19L	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	19					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGTGCTGCTGCTAACATCTGC	0.418		NaN											0	0	0	0.004878	0	35	28				
BANP	54971	broad.mit.edu	37	16	88008777	88008777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:88008777G>C	uc002fkr.2	+	2	277	c.53G>C	c.(52-54)AGC>ACC	p.S18T	BANP_uc002fkp.2_Missense_Mutation_p.S19T|BANP_uc002fkq.2_Missense_Mutation_p.S19T|BANP_uc010vow.1_Missense_Mutation_p.S18T|BANP_uc002fks.3_Missense_Mutation_p.S18T|BANP_uc002fko.1_Intron|BANP_uc010vov.1_Missense_Mutation_p.S18T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	19					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAAGACCTGAGCCCTGACCAC	0.473		NaN											0	0	0	0.003271	0	26	50				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006999	0	34	17		Valid		
CHD3	1107	broad.mit.edu	37	17	7802505	7802505	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:7802505C>T	uc002gje.2	+	14	2478	c.2328C>T	c.(2326-2328)TAC>TAT	p.Y776Y	CHD3_uc002gjd.2_Silent_p.Y835Y|CHD3_uc002gjf.2_Silent_p.Y776Y	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	776	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				TCTTCCTCTACTCACTCTACA	0.567		NaN											0	0	0	0.01441	0	58	18				
C17orf48	56985	broad.mit.edu	37	17	10608309	10608309	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:10608309C>T	uc002gmt.2	+	2	141	c.66C>T	c.(64-66)GTC>GTT	p.V22V	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.V22V	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	22							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CCTTTGGCGTCATCGCAGATG	0.423		NaN											0	0	0	0.004482	0	8	48				
SSH2	85464	broad.mit.edu	37	17	27959241	27959241	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:27959241G>T	uc002heo.1	-	15	2890	c.2890C>A	c.(2890-2892)CAC>AAC	p.H964N	SSH2_uc010wbh.1_Missense_Mutation_p.H991N	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	964					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCTGGCAAGTGGTCAAACTCC	0.547		NaN											1	0	1.64293e-13	0.00333	1.94015e-13	23	19				
LRRC37B	114659	broad.mit.edu	37	17	30348423	30348423	+	Silent	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:30348423G>C	uc002hgu.2	+	1	269	c.258G>C	c.(256-258)CTG>CTC	p.L86L	LRRC37B_uc010wbx.1_Silent_p.L4L|LRRC37B_uc010csu.2_Silent_p.L86L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	86	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGTCAGCCCTGCCTCAGGAAC	0.592		NaN											0	0	0	0.004007	0	16	57				
AMAC1	146861	broad.mit.edu	37	17	33520917	33520917	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:33520917G>T	uc002hjd.2	-	1	496	c.410C>A	c.(409-411)TCT>TAT	p.S137Y		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	137	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GACGGTGGAAGAACCTTTGCG	0.587		NaN											1	0	1.48734e-19	0.013114	1.82997e-19	32	136				
MAP3K14	9020	broad.mit.edu	37	17	43351496	43351496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:43351496C>G	uc002iiw.1	-	9	1655	c.1546G>C	c.(1546-1548)GTC>CTC	p.V516L	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.V100L	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	516	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						TTACCTTTGACGTCCCCATGC	0.617		NaN											0	0	0	0.009096	0	3	3				
ATP5G1	516	broad.mit.edu	37	17	46971758	46971758	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:46971758A>G	uc002iog.2	+	3	198	c.64A>G	c.(64-66)ATC>GTC	p.I22V	ATP5G1_uc002ioh.2_Missense_Mutation_p.I22V	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	22					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0						CAGGGGTCTAATCAGGCCTGT	0.438		NaN											0	0	0	0.01441	0	50	125				
MFSD11	79157	broad.mit.edu	37	17	74740413	74740413	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:74740413G>C	uc002jta.2	+	8	1479	c.506G>C	c.(505-507)CGA>CCA	p.R169P	MFSD11_uc002jtb.2_Missense_Mutation_p.R169P|MFSD11_uc010dha.2_Missense_Mutation_p.R117P|MFSD11_uc002jtc.2_Missense_Mutation_p.R169P|MFSD11_uc002jtd.3_Missense_Mutation_p.R169P|MFSD11_uc010dhb.2_Missense_Mutation_p.R117P|MFSD11_uc002jte.2_Missense_Mutation_p.R169P	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	169						integral to membrane				ovary(1)	1						GAGAGTGACCGAAGAACAGTG	0.413		NaN											0	0	0	0.004289	0	25	48				
TSPAN10	83882	broad.mit.edu	37	17	79612041	79612041	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr17:79612041C>T	uc010die.2	+	2	150	c.60C>T	c.(58-60)CTC>CTT	p.L20L	TSPAN10_uc002kaw.1_Silent_p.L20L|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	20						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGAAGCCCCTCTCTGTGCACA	0.647		NaN											0	0	0	0.013537	0	10	28				
NDC80	10403	broad.mit.edu	37	18	2575029	2575029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr18:2575029C>T	uc002kli.2	+	3	325	c.143C>T	c.(142-144)CCG>CTG	p.P48L		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	48	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						ATAAACAAACCGACATCTGAA	0.303		NaN											0	0	0	0.004007	0	10	12				
RNF152	220441	broad.mit.edu	37	18	59483323	59483323	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr18:59483323C>G	uc002lih.1	-	2	786	c.374G>C	c.(373-375)AGC>ACC	p.S125T		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	125					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				CTTCTGCTGGCTCCCGGGCAG	0.662		NaN											0	0	0	0.00333	0	19	7				
MLLT1	4298	broad.mit.edu	37	19	6230639	6230639	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:6230639T>C	uc002mek.2	-	4	526	c.362A>G	c.(361-363)AAG>AGG	p.K121R		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	121					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GAAGGTGAGCTTCTCGCAGCG	0.647		NaN	T	MLL	AL								0	0	0	0.01441	0	83	31				
CNN1	1264	broad.mit.edu	37	19	11660487	11660487	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:11660487C>A	uc002msc.1	+	7	935	c.771C>A	c.(769-771)GGC>GGA	p.G257G	CNN1_uc010xmb.1_Silent_p.G207G|CNN1_uc010xmc.1_Silent_p.G207G	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	257	Calponin-like 3.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CGCAGCGGGGCATGACGGTGT	0.652		NaN											1	0	7.76418e-22	0.005443	9.91621e-22	28	9				
MED26	9441	broad.mit.edu	37	19	16686879	16686879	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:16686879C>T	uc002nen.1	-	3	2023	c.1762G>A	c.(1762-1764)GAC>AAC	p.D588N	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	588					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						AAGCGCCCGTCGTCGCCGTGC	0.537		NaN											0	0	0	0.01441	0	45	6				
GMIP	51291	broad.mit.edu	37	19	19740837	19740837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:19740837C>T	uc002nnd.2	-	21	2965	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.E924K|GMIP_uc010xrc.1_Missense_Mutation_p.E921K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	950					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GGCACAGCCTCGCTGTCCAAT	0.637		NaN											0	0	0	0.004672	0	2	1				
ZNF536	9745	broad.mit.edu	37	19	31039827	31039827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:31039827G>A	uc002nsu.1	+	4	3439	c.3301G>A	c.(3301-3303)GAC>AAC	p.D1101N	ZNF536_uc010edd.1_Missense_Mutation_p.D1101N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542		NaN											0	0	0	0.004656	0	21	41				
ZNF302	55900	broad.mit.edu	37	19	35175840	35175840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:35175840C>G	uc002nvr.1	+	6	1293	c.1030C>G	c.(1030-1032)CTC>GTC	p.L344V	ZNF302_uc002nvp.1_Missense_Mutation_p.L300V|ZNF302_uc002nvq.1_Missense_Mutation_p.L300V|ZNF302_uc002nvs.1_Missense_Mutation_p.L300V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	379	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGTCCCTTCTCATTCAGCA	0.423		NaN											0	0	0	0.00245	0	12	50				
ZNF420	147923	broad.mit.edu	37	19	37619520	37619520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:37619520G>A	uc002ofl.2	+	5	1842	c.1627G>A	c.(1627-1629)GGC>AGC	p.G543S		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	543	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTGCGCGTGGCTTACTACT	0.413		NaN											0	0	0	0.00632	0	28	54				
PLEKHG2	64857	broad.mit.edu	37	19	39913486	39913486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:39913486G>A	uc010xuz.1	+	18	2117	c.1792G>A	c.(1792-1794)GAA>AAA	p.E598K	PLEKHG2_uc010xuy.1_Missense_Mutation_p.E539K|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E376K	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	598	Poly-Glu.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGAGGAGGAAGAGGAAGG	0.602		NaN											0	0	0	0.000602	0	5	12				
ZNF780A	284323	broad.mit.edu	37	19	40580973	40580973	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:40580973T>C	uc002omy.2	-	6	1601	c.1376A>G	c.(1375-1377)CAA>CGA	p.Q459R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q459R|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q460R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	459	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCAATAAGTTGGCAATGATA	0.403		NaN											0	0	0	0.01441	0	68	104				
PLD3	23646	broad.mit.edu	37	19	40882622	40882622	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:40882622G>C	uc002onm.3	+	11	1524	c.1126G>C	c.(1126-1128)GCC>CCC	p.A376P	PLD3_uc002onj.3_Missense_Mutation_p.A376P|PLD3_uc002onk.3_Missense_Mutation_p.A376P|PLD3_uc002onl.3_Missense_Mutation_p.A376P|PLD3_uc002onn.2_Missense_Mutation_p.A376P	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	376	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ATCCATGCGGGCCTTCCTGCT	0.652		NaN											0	0	0	0.01441	0	43	53				
LIPE	3991	broad.mit.edu	37	19	42911490	42911490	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:42911490T>A	uc002otr.2	-	6	2250	c.1973A>T	c.(1972-1974)CAG>CTG	p.Q658L	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	658					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TCTGGAGGTCTGGGCCACAAA	0.687		NaN											0	0	0	0.001984	0	6	5				
KCNN4	3783	broad.mit.edu	37	19	44284956	44284956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:44284956C>T	uc002oxl.2	-	1	454	c.58G>A	c.(58-60)GAG>AAG	p.E20K	KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	20					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TTCTCCTGCTCCAGCAAGCGC	0.662		NaN											0	0	0	0.01441	0	53	83				
DHX34	9704	broad.mit.edu	37	19	47876898	47876898	+	Missense_Mutation	SNP	C	C	T	rs141177029	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:47876898C>T	uc010xyn.1	+	9	2346	c.2005C>T	c.(2005-2007)CGC>TGC	p.R669C		NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	669						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGGTGCCGCCGCCGGGGCAT	0.657		NaN											0	0	0	0.003954	0	17	30				
MYBPC2	4606	broad.mit.edu	37	19	50961863	50961863	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:50961863C>G	uc002psf.2	+	21	2409	c.2358C>G	c.(2356-2358)GCC>GCG	p.A786A		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	786	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGTCCCTGCCAACACCGAGC	0.657		NaN											0	0	0	0.00499	0	14	34				
BIRC8	112401	broad.mit.edu	37	19	53793189	53793189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:53793189C>G	uc002qbk.2	-	1	1687	c.439G>C	c.(439-441)GAG>CAG	p.E147Q		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	147					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		ACAAGAACCTCAAGCGTTTTA	0.398		NaN											0	0	0	0.004289	0	31	70				
ZNF331	55422	broad.mit.edu	37	19	54080062	54080062	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:54080062G>T	uc002qbx.1	+	7	1682	c.248G>T	c.(247-249)TGG>TTG	p.W83L	ZNF331_uc002qby.1_Missense_Mutation_p.W83L|ZNF331_uc002qbz.1_Missense_Mutation_p.W83L|ZNF331_uc002qca.1_Missense_Mutation_p.W83L|ZNF331_uc010eqr.1_Missense_Mutation_p.W83L|ZNF331_uc002qcb.1_Missense_Mutation_p.W83L|ZNF331_uc002qcc.1_Missense_Mutation_p.W83L|ZNF331_uc002qcd.1_Missense_Mutation_p.W83L	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GGCCGTAACTGGATATGTGAA	0.398		NaN	T	NaN	follicular thyroid adenoma								1	0	3.86212e-05	0.008291	4.05178e-05	10	51				
LILRB1	10859	broad.mit.edu	37	19	55148021	55148021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:55148021C>T	uc002qgj.2	+	15	2064	c.1724C>T	c.(1723-1725)GCC>GTC	p.A575V	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.A576V|LILRB1_uc002qgk.2_Missense_Mutation_p.A576V|LILRB1_uc002qgm.2_Missense_Mutation_p.A577V|LILRB1_uc010erq.2_Missense_Mutation_p.A559V|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	575	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		AGAGAAATGGCCTCTCCTCCT	0.582		NaN								HNSCC(37;0.09)			0	0	0	0.010818	0	28	31				
NLRP8	126205	broad.mit.edu	37	19	56482062	56482062	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:56482062C>T	uc002qmh.2	+	6	2605	c.2534C>T	c.(2533-2535)TCG>TTG	p.S845L	NLRP8_uc010etg.2_Missense_Mutation_p.S845L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	845	LRR 3.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAGGCTGTCGTAAGTCTCC	0.473		NaN											0	0	0	0.01441	0	66	94				
ZNF324B	388569	broad.mit.edu	37	19	58965138	58965138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:58965138G>A	uc002qsv.1	+	2	177	c.70G>A	c.(70-72)GCC>ACC	p.A24T	ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.A24T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCGCAGAGGGCCCTGTACCG	0.567		NaN											0	0	0	0.01441	0	39	58				
ZBTB45	84878	broad.mit.edu	37	19	59028486	59028486	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:59028486T>C	uc002qtd.2	-	2	847	c.555A>G	c.(553-555)CCA>CCG	p.P185P	ZBTB45_uc002qte.2_Silent_p.P185P|ZBTB45_uc002qtf.2_Silent_p.P185P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	185	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGGCAGGTGTTGGGGGCGCTG	0.692		NaN									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013726	0	31	36				
TPO	7173	broad.mit.edu	37	2	1488451	1488451	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:1488451C>A	uc002qww.2	+	9	1513	c.1422C>A	c.(1420-1422)GAC>GAA	p.D474E	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D474E|TPO_uc002qwr.2_Missense_Mutation_p.D474E|TPO_uc002qwx.2_Missense_Mutation_p.D474E|TPO_uc010yio.1_Missense_Mutation_p.D301E|TPO_uc010yip.1_Missense_Mutation_p.D474E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	474	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTATGACTCCACCGCCA	0.602		NaN											1	0	7.26314e-15	0.007291	8.70836e-15	28	32				
MSGN1	343930	broad.mit.edu	37	2	17998252	17998252	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:17998252G>A	uc010yjt.1	+	1	467	c.467G>A	c.(466-468)AGC>AAC	p.S156N		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	156	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTCTACAGCCAGAGAGGC	0.587		NaN											0	0	0	0.001855	0	12	27				
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:20647449C>T	uc002rdv.2	+	1	615	c.223C>T	c.(223-225)CCG>TCG	p.P75S		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTCCTACCCGGACACCGA	0.647		NaN											0	0	0	0.01441	0	52	54		Valid		
C2orf44	80304	broad.mit.edu	37	2	24254029	24254029	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:24254029G>A	uc002rep.2	-	4	2071	c.1940C>T	c.(1939-1941)TCC>TTC	p.S647F	C2orf44_uc010eya.2_Missense_Mutation_p.P608S	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	647							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCCAGTGGGAATCTGCAAA	0.363		NaN											0	0	0	0.001984	0	7	15				
IFT172	26160	broad.mit.edu	37	2	27672643	27672643	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:27672643C>A	uc002rku.2	-	37	4126	c.4075G>T	c.(4075-4077)GAC>TAC	p.D1359Y	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1359	TPR 11.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTGACAAGGTCCAGATTCAGA	0.522		NaN											1	0	5.57489e-27	0.01441	7.31899e-27	47	44				
FSHR	2492	broad.mit.edu	37	2	49189908	49189908	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:49189908G>A	uc002rww.2	-	10	2126	c.2052C>T	c.(2050-2052)TAC>TAT	p.Y684Y	FSHR_uc002rwx.2_Silent_p.Y622Y|FSHR_uc010fbn.2_Silent_p.Y658Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	684	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGACAAGTATGTAAGTGGAAC	0.358		NaN							Gonadal_Dysgenesis_46_XX				0	0	0	0.003954	0	20	54				
EHBP1	23301	broad.mit.edu	37	2	63176182	63176182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:63176182G>A	uc002sby.2	+	14	2788	c.2306G>A	c.(2305-2307)AGT>AAT	p.S769N	EHBP1_uc010fcp.2_Missense_Mutation_p.S734N|EHBP1_uc002sbz.2_Missense_Mutation_p.S734N|EHBP1_uc002scb.2_Missense_Mutation_p.S734N	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	769						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TACTCATATAGTAGAGATCTA	0.373		NaN							Hereditary_Prostate_Cancer				0	0	0	0.010504	0	20	13				
SFTPB	6439	broad.mit.edu	37	2	85894867	85894867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:85894867C>A	uc002sqh.2	-	2	136	c.130G>T	c.(130-132)GAG>TAG	p.E44*	SFTPB_uc002sqi.2_Nonsense_Mutation_p.E56*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.E44*	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	44	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						AATGCTTGCTCCAGGCTTTGG	0.592		NaN											1	0	4.88482e-21	0.01441	6.13868e-21	50	35				
TBC1D8	11138	broad.mit.edu	37	2	101624308	101624308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:101624308G>A	uc010fiv.2	-	20	3529	c.3398C>T	c.(3397-3399)TCT>TTT	p.S1133F	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.S890F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	1133					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CTTAAGTTCAGATTGTGATTG	0.423		NaN											0	0	0	0.00874	0	33	142				
TBC1D8	11138	broad.mit.edu	37	2	101624437	101624437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:101624437G>C	uc010fiv.2	-	20	3400	c.3269C>G	c.(3268-3270)GCT>GGT	p.A1090G	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.A847G	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	1090					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CAGAAGTGAAGCTAAAATATG	0.448		NaN											0	0	0	0.009096	0	4	37				
TGFBRAP1	9392	broad.mit.edu	37	2	105890144	105890144	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:105890144C>T	uc002tcq.2	-	9	1753	c.1669G>A	c.(1669-1671)GGA>AGA	p.G557R	TGFBRAP1_uc010fjc.2_Intron|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.G557R	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	557					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						ACCTGAACTCCGACCTGAAAG	0.403		NaN											0	0	0	0.00308	0	5	21				
ATF2	1386	broad.mit.edu	37	2	175979453	175979453	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:175979453T>C	uc002ujl.2	-	8	853	c.591A>G	c.(589-591)GTA>GTG	p.V197V	ATF2_uc010fqv.2_Silent_p.V148V|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Silent_p.V139V|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.V197V|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.V179V|ATF2_uc002ujs.2_Silent_p.V139V|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Silent_p.V139V|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.V197V	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	197					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCTGGGTGATTACAGTACTTG	0.403		NaN											0	0	0	0.01441	0	118	93				
TTN	7273	broad.mit.edu	37	2	179613658	179613658	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:179613658A>G	uc002unb.2	-	46	13693	c.13469T>C	c.(13468-13470)ATT>ACT	p.I4490T	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTCATCAATCTTCTTTTG	0.313		NaN											0	0	0	0.003954	0	23	19				
TTN	7273	broad.mit.edu	37	2	179649056	179649056	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:179649056A>G	uc010zfg.1	-	16	2740	c.2516T>C	c.(2515-2517)ATT>ACT	p.I839T	TTN_uc010zfh.1_Missense_Mutation_p.I793T|TTN_uc010zfi.1_Missense_Mutation_p.I793T|TTN_uc010zfj.1_Missense_Mutation_p.I793T|TTN_uc002unb.2_Missense_Mutation_p.I839T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	839							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATGTGGCAATAGCACTACC	0.468		NaN											0	0	0	0.003271	0	27	30				
CCDC108	255101	broad.mit.edu	37	2	219900359	219900359	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:219900359G>A	uc002vjl.1	-	5	469	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	CCDC108_uc010zkp.1_Missense_Mutation_p.H118Y|CCDC108_uc010zkq.1_Missense_Mutation_p.H64Y|CCDC108_uc002vjn.2_Missense_Mutation_p.H64Y	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	129				H -> R (in Ref. 1; BAC86878).		integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGGAGTGCATCTGAGTG	0.567		NaN											0	0	0	0.01441	0	63	16				
SCG2	7857	broad.mit.edu	37	2	224462395	224462395	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr2:224462395C>G	uc002vnm.2	-	2	1739	c.1606G>C	c.(1606-1608)GAC>CAC	p.D536H		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	536					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTGCAGGTCATCTTCAGAT	0.468		NaN											0	0	0	0.014323	0	19	10				
RALGAPA2	57186	broad.mit.edu	37	20	20610169	20610169	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:20610169C>A	uc002wrz.2	-	10	1214	c.1071G>T	c.(1069-1071)CAG>CAT	p.Q357H	RALGAPA2_uc010gcx.2_Missense_Mutation_p.Q61H|RALGAPA2_uc010zsg.1_Translation_Start_Site	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	357					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GGCTTTTGTCCTGCTCCGTGG	0.537		NaN											1	0	2.27795e-59	0.01441	3.11231e-59	104	111				
WFDC3	140686	broad.mit.edu	37	20	44418583	44418583	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:44418583G>T	uc002xpf.1	-	2	116	c.32C>A	c.(31-33)GCA>GAA	p.A11E	DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_Intron|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	11						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				AGCAAGAAGTGCCTTCAGAAG	0.483		NaN											1	0	6.53348e-20	0.003755	8.08088e-20	28	63				
ZNF831	128611	broad.mit.edu	37	20	57768368	57768368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:57768368C>T	uc002yan.2	+	1	2294	c.2294C>T	c.(2293-2295)CCT>CTT	p.P765L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	765						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCCCCAGCACCTGGCCCCCTC	0.647		NaN											0	0	0	0.001168	0	5	9				
DIDO1	11083	broad.mit.edu	37	20	61513072	61513072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:61513072C>G	uc002ydr.1	-	16	4500	c.4236G>C	c.(4234-4236)AGG>AGC	p.R1412S	DIDO1_uc002yds.1_Missense_Mutation_p.R1412S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1412					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTCAGGAGCCCTTTCCACCT	0.612		NaN											0	0	0	0.01441	0	69	70				
SAMD10	140700	broad.mit.edu	37	20	62608657	62608657	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62608657C>G	uc002yhm.2	-	2	369	c.194G>C	c.(193-195)TGG>TCG	p.W65S	SAMD10_uc002yhn.2_RNA	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	65											0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGTCATGCCACGTGAGGCT	0.667		NaN											0	0	0	0.01441	0	98	80				
PRPF6	24148	broad.mit.edu	37	20	62664245	62664245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62664245G>T	uc002yho.2	+	21	2893	c.2725G>T	c.(2725-2727)GGG>TGG	p.G909W	PRPF6_uc002yhp.2_Missense_Mutation_p.G869W|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	909					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCCTCGGCATGGGGAGCTGTG	0.642		NaN											1	0	7.92952e-12	0.003954	9.1795e-12	25	23				
MYT1	4661	broad.mit.edu	37	20	62871155	62871155	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr20:62871155A>G	uc002yii.2	+	22	3500	c.3136A>G	c.(3136-3138)AAC>GAC	p.N1046D	MYT1_uc002yij.2_Missense_Mutation_p.N705D|MYT1_uc002yik.2_Missense_Mutation_p.N12D	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1046					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGGAGGAGAACAAGCTCAT	0.572		NaN											0	0	0	0.01441	0	88	73				
BAGE2	85319	broad.mit.edu	37	21	11097575	11097575	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr21:11097575C>A	uc002yit.1	-	2	295	c.87G>T	c.(85-87)TGG>TGT	p.W29C	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctccaacctccagctcacca	0.095		NaN											1	0	9.31168e-06	0.001855	9.90156e-06	11	79				
PDE9A	5152	broad.mit.edu	37	21	44192566	44192566	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr21:44192566C>A	uc002zbm.2	+	19	1767	c.1704C>A	c.(1702-1704)GAC>GAA	p.D568E	PDE9A_uc002zbn.2_Missense_Mutation_p.D441E|PDE9A_uc002zbo.2_Missense_Mutation_p.D515E|PDE9A_uc002zbp.2_Missense_Mutation_p.D361E|PDE9A_uc002zbq.2_Missense_Mutation_p.D466E|PDE9A_uc002zbs.2_Missense_Mutation_p.D361E|PDE9A_uc002zbr.2_Missense_Mutation_p.D361E|PDE9A_uc002zbt.2_Missense_Mutation_p.D440E|PDE9A_uc002zbu.2_Missense_Mutation_p.D434E|PDE9A_uc002zbv.2_Missense_Mutation_p.D408E|PDE9A_uc002zbw.2_Missense_Mutation_p.D351E|PDE9A_uc002zbx.2_Missense_Mutation_p.D508E|PDE9A_uc002zby.2_Missense_Mutation_p.D351E|PDE9A_uc002zbz.2_Missense_Mutation_p.D460E|PDE9A_uc002zca.2_Missense_Mutation_p.D527E|PDE9A_uc002zcb.2_Missense_Mutation_p.D542E|PDE9A_uc002zcc.2_Missense_Mutation_p.D467E|PDE9A_uc002zcd.2_Missense_Mutation_p.D482E|PDE9A_uc002zce.2_Missense_Mutation_p.D501E|PDE9A_uc002zcf.2_Missense_Mutation_p.D361E|PDE9A_uc002zcg.2_Missense_Mutation_p.D361E|PDE9A_uc002zch.2_Missense_Mutation_p.D351E	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	568					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						AGAAGACTGACAGCTTGACGT	0.532		NaN											1	0	2.0095e-06	0.001984	2.18626e-06	5	18				
OR11H1	81061	broad.mit.edu	37	22	16449133	16449133	+	Silent	SNP	A	A	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:16449133A>C	uc011agd.1	-	1	672	c.672T>G	c.(670-672)GGT>GGG	p.G224G		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	224	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGAGGAAGTTACCAAAAATAA	0.433		NaN											0	0	0	0.01441	0	25	31				
MYO18B	84700	broad.mit.edu	37	22	26173598	26173598	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:26173598G>T	uc003abz.1	+	8	2168	c.1918G>T	c.(1918-1920)GCA>TCA	p.A640S	MYO18B_uc003aca.1_Missense_Mutation_p.A521S|MYO18B_uc010guy.1_Missense_Mutation_p.A521S|MYO18B_uc010guz.1_Missense_Mutation_p.A521S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A153S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	640	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TGGCTCCATGGCACAGCGGGC	0.647		NaN											1	0	1.12685e-05	0.004482	1.19284e-05	6	30				
MYO18B	84700	broad.mit.edu	37	22	26219621	26219621	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:26219621C>A	uc003abz.1	+	13	2921	c.2671C>A	c.(2671-2673)CTC>ATC	p.L891I	MYO18B_uc003aca.1_Missense_Mutation_p.L772I|MYO18B_uc010guy.1_Missense_Mutation_p.L772I|MYO18B_uc010guz.1_Missense_Mutation_p.L772I|MYO18B_uc011aka.1_Missense_Mutation_p.L45I|MYO18B_uc011akb.1_Missense_Mutation_p.L404I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	891	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCGATGGGGCCTCGAGGATGA	0.597		NaN											1	0	3.45943e-77	0.01441	4.78215e-77	103	112				
IL2RB	3560	broad.mit.edu	37	22	37524836	37524836	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:37524836G>T	uc003aqv.1	-	10	1087	c.956C>A	c.(955-957)GCA>GAA	p.A319E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	319	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATCTCAGGTGCCAGGCCGCC	0.627		NaN											1	0	3.99206e-14	0.007413	4.7621e-14	14	37				
SGSM3	27352	broad.mit.edu	37	22	40804819	40804819	+	Silent	SNP	C	C	T	rs140197200		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:40804819C>T	uc003ayu.1	+	18	2084	c.1875C>T	c.(1873-1875)GTC>GTT	p.V625V	SGSM3_uc011aos.1_Silent_p.V558V|SGSM3_uc011aot.1_Silent_p.V536V|SGSM3_uc010gyd.1_Silent_p.V696V	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	625	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						ATGGCAAAGTCCTGACCCCGG	0.652		NaN											0	0	0	0.012319	0	15	49				
TEF	7008	broad.mit.edu	37	22	41783535	41783535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:41783535G>A	uc003azy.2	+	2	424	c.338G>A	c.(337-339)AGC>AAC	p.S113N	TEF_uc003azx.2_Missense_Mutation_p.S83N|TEF_uc011apa.1_Missense_Mutation_p.S118N	NM_003216	NP_003207	Q10587	TEF_HUMAN	thyrotrophic embryonic factor isoform 1	113					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ATCCCCGCCAGCCCCACCCAC	0.587		NaN											0	0	0	0.01441	0	100	81				
MAPK11	5600	broad.mit.edu	37	22	50705436	50705436	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr22:50705436C>T	uc003bkr.2	-	7	595	c.537G>A	c.(535-537)ATG>ATA	p.M179I	MAPK11_uc010hax.2_Missense_Mutation_p.M1I|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.M71I	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	179	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATAGCCGGTCATCTCCTCGT	0.657		NaN											0	0	0	0.010729	0	12	44				
ZNF197	10168	broad.mit.edu	37	3	44685245	44685245	+	Nonsense_Mutation	SNP	G	G	T	rs61751651		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:44685245G>T	uc003cnm.2	+	6	2829	c.2623G>T	c.(2623-2625)GAA>TAA	p.E875*	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	875	C2H2-type 19.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAAAACCTACGAATGTCATGT	0.383		NaN											1	0	7.33532e-06	0.003954	7.87123e-06	22	44				
CCR1	1230	broad.mit.edu	37	3	46245233	46245233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:46245233C>T	uc003cph.1	-	2	643	c.572G>A	c.(571-573)AGC>AAC	p.S191N	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	191	Extracellular (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCTCGTAGGCTTTCGTGAGG	0.493		NaN											0	0	0	0.014323	0	21	37				
LTF	4057	broad.mit.edu	37	3	46484956	46484956	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:46484956T>C	uc003cpq.2	-	13	1669	c.1631A>G	c.(1630-1632)TAC>TGC	p.Y544C	LTF_uc003fzr.2_Missense_Mutation_p.Y500C|LTF_uc010hjh.2_Missense_Mutation_p.Y542C|LTF_uc003cpr.2_Missense_Mutation_p.Y531C	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	544	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GTAGCCGTAGTATCTCTCGTT	0.542		NaN											0	0	0	0.01441	0	45	150				
WDR6	11180	broad.mit.edu	37	3	49051677	49051677	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:49051677C>T	uc003cvj.2	+	3	2845	c.2707C>T	c.(2707-2709)CCC>TCC	p.P903S	WDR6_uc011bby.1_Missense_Mutation_p.P351S|WDR6_uc010hkn.2_Missense_Mutation_p.P847S|WDR6_uc011bbz.1_Missense_Mutation_p.P822S	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	873	WD 13.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACTTGACCAGCCCGGCCTTGG	0.577		NaN									OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009535	0	24	29				
DNAH1	25981	broad.mit.edu	37	3	52412779	52412779	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:52412779G>T	uc011bef.1	+	47	7621	c.7360G>T	c.(7360-7362)GAC>TAC	p.D2454Y		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2454					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCATGGCTGACCCGGCCAA	0.627		NaN											1	0	6.15735e-50	0.01441	8.31596e-50	68	62				
STAB1	23166	broad.mit.edu	37	3	52538860	52538860	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:52538860C>A	uc003dej.2	+	12	1419	c.1345C>A	c.(1345-1347)CAG>AAG	p.Q449K	STAB1_uc003dei.1_Missense_Mutation_p.Q449K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	449	Extracellular (Potential).|FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGGCCGGGCAGGAGATCAC	0.607		NaN											1	0	0.000673444	0.008291	0.00069412	11	32				
ARHGAP31	57514	broad.mit.edu	37	3	119120886	119120886	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:119120886G>A	uc003ecj.3	+	10	1819	c.1287G>A	c.(1285-1287)CCG>CCA	p.P429P		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GGCCCCCACCGGAACAGCTGA	0.617		NaN											0	0	0	0.003163	0	15	46				
EPHB1	2047	broad.mit.edu	37	3	134968233	134968233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:134968233G>A	uc003eqt.2	+	15	2966	c.2746G>A	c.(2746-2748)GTG>ATG	p.V916M	EPHB1_uc003equ.2_Missense_Mutation_p.V477M	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	916	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CTTTACCACCGTGGATGACTG	0.587		NaN											0	0	0	0.009718	0	41	33				
TBCCD1	55171	broad.mit.edu	37	3	186276258	186276258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:186276258C>T	uc003fqg.2	-	3	569	c.440G>A	c.(439-441)AGA>AAA	p.R147K	TBCCD1_uc011bry.1_Missense_Mutation_p.R147K|TBCCD1_uc003fqh.2_Missense_Mutation_p.R51K	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	147					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGATTTGTTTCTGGGACTGGG	0.408		NaN											0	0	0	0.014323	0	19	81				
TP63	8626	broad.mit.edu	37	3	189586386	189586386	+	Missense_Mutation	SNP	G	G	A	rs113993967		TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:189586386G>A	uc003fry.2	+	8	1099	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	TP63_uc003frx.2_Missense_Mutation_p.R337Q|TP63_uc003frz.2_Missense_Mutation_p.R337Q|TP63_uc010hzc.1_Missense_Mutation_p.R337Q|TP63_uc003fsa.2_Missense_Mutation_p.R243Q|TP63_uc003fsb.2_Missense_Mutation_p.R243Q|TP63_uc003fsc.2_Missense_Mutation_p.R243Q|TP63_uc003fsd.2_Missense_Mutation_p.R243Q|TP63_uc010hzd.1_Missense_Mutation_p.R158Q|TP63_uc003fse.1_Missense_Mutation_p.R218Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	337					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTCCTGGGCCGACGCTGCTTT	0.483		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			0	0	0	0.001984	0	6	17				
IL1RAP	3556	broad.mit.edu	37	3	190366314	190366314	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr3:190366314G>A	uc003fsm.1	+	12	1739	c.1533G>A	c.(1531-1533)GTG>GTA	p.V511V	IL1RAP_uc010hzg.1_Silent_p.V511V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V511V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	511	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAACGAAGGTGAAAGAGCTGA	0.502		NaN											0	0	0	0.006122	0	15	68				
TMEM175	84286	broad.mit.edu	37	4	951684	951684	+	Silent	SNP	G	G	T	rs141810982	byFrequency	TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:951684G>T	uc003gbq.2	+	11	1013	c.915G>T	c.(913-915)GCG>GCT	p.A305A	TMEM175_uc003gbr.2_Silent_p.A223A|TMEM175_uc003gbu.2_Silent_p.A223A|TMEM175_uc003gbs.2_Silent_p.A188A|TMEM175_uc003gbt.2_Silent_p.A188A|TMEM175_uc003gbv.2_Silent_p.A188A|TMEM175_uc010ibm.2_Silent_p.A121A	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	305						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCTGAGTGCGACCGGGCCGC	0.622		NaN											1	0	2.43468e-25	0.01441	3.16105e-25	46	47				
WHSC1	7468	broad.mit.edu	37	4	1936889	1936889	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:1936889A>G	uc003gdz.3	+	7	1750	c.1574A>G	c.(1573-1575)AAA>AGA	p.K525R	WHSC1_uc003geb.3_Missense_Mutation_p.K525R|WHSC1_uc003gec.3_Missense_Mutation_p.K525R|WHSC1_uc003ged.3_Missense_Mutation_p.K525R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.K525R|WHSC1_uc010icd.1_Missense_Mutation_p.K525R|WHSC1_uc003gea.1_Missense_Mutation_p.K525R|WHSC1_uc010ice.1_Missense_Mutation_p.K525R|WHSC1_uc003geh.1_Missense_Mutation_p.K525R	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	525					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATGGGAAAAAAAGAAACCAC	0.468		NaN	T	IGH@	MM								0	0	0	0.001168	0	6	19				
C4orf14	84273	broad.mit.edu	37	4	57842717	57842717	+	Silent	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:57842717G>T	uc003hck.2	-	1	1110	c.1035C>A	c.(1033-1035)GGC>GGA	p.G345G	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	345							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CGTTGGTGGCGCCCACTAAGT	0.607		NaN											1	0	1.52009e-12	0.003163	1.77722e-12	14	40				
BANK1	55024	broad.mit.edu	37	4	102946511	102946511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:102946511C>G	uc003hvy.3	+	9	1713	c.1439C>G	c.(1438-1440)TCT>TGT	p.S480C	BANK1_uc003hvx.3_Missense_Mutation_p.S465C|BANK1_uc010ill.2_Missense_Mutation_p.S347C|BANK1_uc003hvz.3_Missense_Mutation_p.S450C	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	480					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTGAGAGTTCTGAAGACCAG	0.493		NaN											0	0	0	0.00499	0	14	56				
ANK2	287	broad.mit.edu	37	4	114278218	114278218	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:114278218A>G	uc003ibe.3	+	38	8544	c.8444A>G	c.(8443-8445)CAA>CGA	p.Q2815R	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q117R|ANK2_uc011cgb.1_Missense_Mutation_p.Q2830R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2782					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTAGCTCTCCAAGGCACTCAT	0.463		NaN											0	0	0	0.010818	0	30	36				
GUCY1A3	2982	broad.mit.edu	37	4	156631721	156631721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:156631721C>T	uc003iov.2	+	7	940	c.404C>T	c.(403-405)TCT>TTT	p.S135F	GUCY1A3_uc003iou.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S135F|GUCY1A3_uc003iow.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S134F|GUCY1A3_uc003iox.2_Missense_Mutation_p.S135F|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S135F|GUCY1A3_uc010iqe.2_Intron|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S135F	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	135				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATCAAAGAATCTCTTGGTGAA	0.383		NaN											0	0	0	0.005524	0	30	25				
AADAT	51166	broad.mit.edu	37	4	170988519	170988519	+	Silent	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:170988519T>C	uc003isr.2	-	9	1263	c.921A>G	c.(919-921)CTA>CTG	p.L307L	AADAT_uc003iss.2_Silent_p.L307L|AADAT_uc003ist.2_Silent_p.L311L	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	307					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCATTCGTGTAGAAGCTGTG	0.343		NaN											0	0	0	0.012213	0	25	31				
FAT1	2195	broad.mit.edu	37	4	187525600	187525600	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:187525600C>A	uc003izf.2	-	18	10667	c.10479G>T	c.(10477-10479)CCG>CCT	p.P3493P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3493	Extracellular (Potential).|Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGACTCCTTGCGGGTTAACTT	0.433		NaN								HNSCC(5;0.00058)			1	0	1.3612e-06	0.003163	1.49478e-06	12	31				
LRRC14B	389257	broad.mit.edu	37	5	192543	192543	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:192543C>A	uc003jal.1	+	1	918	c.890C>A	c.(889-891)ACG>AAG	p.T297K		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	297	LRR 1.									skin(1)	1						AAGATCCCGACGCTGCTTGGG	0.657		NaN											1	0	0.000602214	0.000602	0.000623438	3	4				
TERT	7015	broad.mit.edu	37	5	1294371	1294371	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:1294371G>A	uc003jcb.1	-	2	688	c.630C>T	c.(628-630)GCC>GCT	p.A210A	TERT_uc003jca.1_Silent_p.A210A|TERT_uc003jcc.1_Silent_p.A210A|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	210	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGGACCCCGGCCTCCCTGA	0.746		NaN							TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				0	0	0	0.009096	0	4	1				
PDZD2	23037	broad.mit.edu	37	5	32059421	32059421	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:32059421C>G	uc003jhl.2	+	13	2665	c.2277C>G	c.(2275-2277)AGC>AGG	p.S759R	PDZD2_uc003jhm.2_Missense_Mutation_p.S759R|PDZD2_uc011cnx.1_Missense_Mutation_p.S585R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	759	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ACATTCACAGCCTTGCTCCAG	0.468		NaN											0	0	0	0.007413	0	16	15				
MGC42105	167359	broad.mit.edu	37	5	43245942	43245942	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:43245942G>A	uc003jno.2	+	2	946	c.65G>A	c.(64-66)CGC>CAC	p.R22H		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	22							ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						TGGGATCGGCGCGACAGTGTA	0.597		NaN											0	0	0	0.01441	0	75	57				
RGS7BP	401190	broad.mit.edu	37	5	63871635	63871635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:63871635C>T	uc003jtj.2	+	3	367	c.367C>T	c.(367-369)CGG>TGG	p.R123W	RGS7BP_uc011cqu.1_5'UTR	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	123					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATCTGTCGGCTTTACAT	0.433		NaN											0	0	0	0.007291	0	25	13				
PCDHA11	56138	broad.mit.edu	37	5	140250447	140250447	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:140250447G>T	uc003lia.2	+	1	2617	c.1759G>T	c.(1759-1761)GGC>TGC	p.G587C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G587C	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	587	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGTGCGGGCCACGTGGT	0.677		NaN											1	0	1.13719e-10	0.008361	1.30361e-10	22	95				
PCDH1	5097	broad.mit.edu	37	5	141233975	141233975	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:141233975T>C	uc003llp.2	-	5	3463	c.3346A>G	c.(3346-3348)ATG>GTG	p.M1116V		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGCCTGTCATGGCGACATCA	0.592		NaN											0	0	0	0.00245	0	10	39				
GABRG2	2566	broad.mit.edu	37	5	161569191	161569191	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:161569191T>C	uc003lyz.3	+	7	1149	c.791T>C	c.(790-792)GTC>GCC	p.V264A	GABRG2_uc010jjc.2_Missense_Mutation_p.V304A|GABRG2_uc003lyy.3_Missense_Mutation_p.V264A|GABRG2_uc011dej.1_Missense_Mutation_p.V169A	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	264	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTCATGTCTGTCTACTTTGAT	0.403		NaN											0	0	0	0.009535	0	24	144				
GABBR1	2550	broad.mit.edu	37	6	29598366	29598366	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:29598366G>A	uc003nmt.3	-	4	680	c.344C>T	c.(343-345)ACG>ATG	p.T115M	GABBR1_uc003nmp.3_5'Flank|GABBR1_uc003nms.3_5'Flank|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Translation_Start_Site|GABBR1_uc011dls.1_Missense_Mutation_p.T115M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	115	Extracellular (Potential).|Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T115M(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GTCCCCACCCGTCAGGAAAAC	0.562		NaN											0	0	0	0.00499	0	14	33				
SLC29A1	2030	broad.mit.edu	37	6	44197137	44197137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:44197137G>C	uc003owu.1	+	3	369	c.40G>C	c.(40-42)GTC>CTC	p.V14L	SLC29A1_uc011dvp.1_Missense_Mutation_p.V33L|SLC29A1_uc003owv.1_Missense_Mutation_p.V14L|SLC29A1_uc003oww.1_Missense_Mutation_p.V93L|SLC29A1_uc011dvq.1_Missense_Mutation_p.V56L|SLC29A1_uc003owx.1_Missense_Mutation_p.V14L|SLC29A1_uc003owy.1_Missense_Mutation_p.V14L|SLC29A1_uc003owz.1_Missense_Mutation_p.V14L	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	14	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	ATACAAAGCTGTCTGGCTTAT	0.562		NaN											0	0	0	0.009718	0	34	17				
CDC5L	988	broad.mit.edu	37	6	44361233	44361233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:44361233G>A	uc003oxl.2	+	4	621	c.362G>A	c.(361-363)CGA>CAA	p.R121Q		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	121					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATGATCCACGAAAACTTAAA	0.408		NaN											0	0	0	0.00308	0	7	18				
MDN1	23195	broad.mit.edu	37	6	90359913	90359913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:90359913C>G	uc003pnn.1	-	97	16152	c.16036G>C	c.(16036-16038)GAC>CAC	p.D5346H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5346					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTCGATAGTCTCCTCTATTT	0.348		NaN											0	0	0	0.003163	0	12	1				
WISP3	8838	broad.mit.edu	37	6	112382385	112382385	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:112382385G>T	uc003pvm.2	+	3	350	c.240G>T	c.(238-240)AAG>AAT	p.K80N	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	80	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTGTGCCAAGCAACCAGGGG	0.537		NaN											1	0	6.4685e-43	0.01441	8.53987e-43	54	21				
GPRC6A	222545	broad.mit.edu	37	6	117128326	117128326	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:117128326C>T	uc003pxj.1	-	3	564	c.542G>A	c.(541-543)CGC>CAC	p.R181H	GPRC6A_uc003pxk.1_Missense_Mutation_p.R181H|GPRC6A_uc003pxl.1_Missense_Mutation_p.R181H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	181	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAAGGAAAGCGAATTTTGTC	0.398		NaN											0	0	0	0.01441	0	44	26				
CCDC28A	25901	broad.mit.edu	37	6	139097341	139097341	+	Silent	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:139097341C>A	uc003qie.2	+	2	509	c.354C>A	c.(352-354)GCC>GCA	p.A118A	uc003qid.1_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	118											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AAAAAAATGCCATTCCAGTGA	0.388		NaN											1	0	2.77807e-22	0.013114	3.58707e-22	40	10				
SYNE1	23345	broad.mit.edu	37	6	152464820	152464820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr6:152464820C>T	uc010kiw.2	-	138	25659	c.25057G>A	c.(25057-25059)GAA>AAA	p.E8353K	SYNE1_uc010kiv.2_Missense_Mutation_p.E2877K|SYNE1_uc003qos.3_Missense_Mutation_p.E2877K|SYNE1_uc003qot.3_Missense_Mutation_p.E8305K|SYNE1_uc003qou.3_Missense_Mutation_p.E8353K|SYNE1_uc003qop.3_Missense_Mutation_p.E538K|SYNE1_uc011eez.1_Missense_Mutation_p.E555K|SYNE1_uc003qoq.3_Missense_Mutation_p.E555K|SYNE1_uc003qor.3_Missense_Mutation_p.E1276K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8353	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGATATTTTCGGTTTGCTGT	0.532		NaN								HNSCC(10;0.0054)			0	0	0	0.012319	0	19	52				
MACC1	346389	broad.mit.edu	37	7	20199459	20199459	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:20199459C>T	uc003sus.3	-	5	834	c.525G>A	c.(523-525)CGG>CGA	p.R175R	MACC1_uc010kug.2_Silent_p.R175R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	175					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TATAAGCCTCCCGATCATTTT	0.468		NaN											0	0	0	0.004482	0	8	68				
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:21631013C>T	uc003svc.2	+	14	2516	c.2485C>T	c.(2485-2487)CGC>TGC	p.R829C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CAGAGTTGAGCGCACACAGAA	0.607		NaN							Kartagener_syndrome				0	0	0	0.00499	0	14	33				
C7orf30	115416	broad.mit.edu	37	7	23347511	23347511	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:23347511G>T	uc003swd.1	+	3	492	c.460G>T	c.(460-462)GAC>TAC	p.D154Y	C7orf30_uc003swe.2_5'Flank	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	154						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			ATGTAAACGTGACCCTCATGT	0.428		NaN											1	0	9.68594e-22	0.01441	1.23038e-21	49	81				
MUC17	140453	broad.mit.edu	37	7	100678782	100678782	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:100678782T>C	uc003uxp.1	+	3	4138	c.4085T>C	c.(4084-4086)GTT>GCT	p.V1362A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1362	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTCCTGTTGACAACAGC	0.453		NaN											0	0	0	0.01441	0	169	238				
SYPL1	6856	broad.mit.edu	37	7	105732326	105732326	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:105732326C>A	uc003vdp.2	-	6	787	c.705G>T	c.(703-705)GAG>GAT	p.E235D	SYPL1_uc003vdo.2_Missense_Mutation_p.E217D	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	235	Cytoplasmic (Potential).|MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						GTAGGCTGGTCTCCTTGTACA	0.383		NaN											1	0	2.38262e-10	0.010771	2.69191e-10	35	39				
FLNC	2318	broad.mit.edu	37	7	128471003	128471003	+	Silent	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:128471003C>G	uc003vnz.3	+	1	521	c.312C>G	c.(310-312)CTC>CTG	p.L104L	FLNC_uc003voa.3_Silent_p.L104L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	104	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCGTGGCCCTCGAGTTCCTCG	0.657		NaN											0	0	0	0.007835	0	32	37				
DGKI	9162	broad.mit.edu	37	7	137271869	137271869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr7:137271869G>T	uc003vtt.2	-	13	1400	c.1399C>A	c.(1399-1401)CTG>ATG	p.L467M	DGKI_uc003vtu.2_Missense_Mutation_p.L167M	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	467	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						GTTCGAGCCAGGTCATTCCCA	0.552		NaN											1	0	7.7325e-45	0.01441	1.03246e-44	46	81				
RP1L1	94137	broad.mit.edu	37	8	10469938	10469938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:10469938C>T	uc003wtc.2	-	4	1899	c.1670G>A	c.(1669-1671)GGC>GAC	p.G557D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	557					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCTTGCCTTGCCTGGACAGCC	0.657		NaN											0	0	0	0.004656	0	24	39				
GATA4	2626	broad.mit.edu	37	8	11615912	11615912	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:11615912G>A	uc003wuc.2	+	7	1811	c.1257G>A	c.(1255-1257)CAG>CAA	p.Q419Q	GATA4_uc003wub.1_Silent_p.Q213Q|GATA4_uc011kxc.1_Silent_p.Q420Q|uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	419					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		AGTCTCCACAGACCAGCTCCA	0.587		NaN											0	0	0	0.013726	0	27	47				
TNFRSF10D	8793	broad.mit.edu	37	8	23004489	23004489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:23004489C>T	uc003xcz.1	-	4	559	c.467G>A	c.(466-468)CGG>CAG	p.R156Q		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	156	Extracellular (Potential).|TNFR-Cys 3.				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCTACACGTCCGGCACATCTC	0.502		NaN											0	0	0	0.006214	0	7	44				
ADAM32	203102	broad.mit.edu	37	8	39111966	39111966	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:39111966C>A	uc003xmt.3	+	18	2181	c.1936C>A	c.(1936-1938)CCA>ACA	p.P646T	ADAM32_uc011lch.1_Missense_Mutation_p.P547T|ADAM32_uc003xmu.3_Missense_Mutation_p.P540T|ADAM32_uc003xmv.2_Missense_Mutation_p.P70T	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	646	EGF-like.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CCATTGTTCGCCAGGCTATAA	0.363		NaN											1	0	0.00621372	0.006214	0.00637652	6	3				
PLAT	5327	broad.mit.edu	37	8	42050684	42050684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:42050684C>G	uc003xos.2	-	2	229	c.20G>C	c.(19-21)GGG>GCG	p.G7A	PLAT_uc010lxf.1_Missense_Mutation_p.G7A|PLAT_uc010lxg.1_Missense_Mutation_p.G7A|PLAT_uc003xot.2_Missense_Mutation_p.G7A|PLAT_uc011lcm.1_Missense_Mutation_p.G7A|PLAT_uc011lcn.1_Missense_Mutation_p.G7A	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	7					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGCAGAGCCCTCTCTTCAT	0.547		NaN											0	0	0	0.003163	0	12	28				
ZFHX4	79776	broad.mit.edu	37	8	77764038	77764038	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:77764038G>T	uc003yav.2	+	10	5133	c.4746G>T	c.(4744-4746)GAG>GAT	p.E1582D	ZFHX4_uc003yau.1_Missense_Mutation_p.E1627D|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1582D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1582						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAGCTGGAGCCCAGTGGTC	0.517		NaN								HNSCC(33;0.089)			1	0	1.67942e-08	0.006122	1.87935e-08	15	20				
FAM83H	286077	broad.mit.edu	37	8	144810312	144810312	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:144810312T>G	uc003yzk.2	-	5	1388	c.1319A>C	c.(1318-1320)GAC>GCC	p.D440A	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	440					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGAAGTCGTCGCCGTG	0.697		NaN											0	0	0	0.000602	0	5	15				
CNTLN	54875	broad.mit.edu	37	9	17466040	17466040	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:17466040G>T	uc003zmz.2	+	22	3616	c.3590G>T	c.(3589-3591)AGA>ATA	p.R1197I	CNTLN_uc003zmy.2_Missense_Mutation_p.R1198I|CNTLN_uc010mio.2_Missense_Mutation_p.R877I	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1198	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CTAAAGCAAAGACTTAACGTT	0.303		NaN											1	0	4.74835e-14	0.010818	5.63567e-14	27	27				
AUH	549	broad.mit.edu	37	9	94118381	94118381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:94118381G>C	uc004arf.3	-	2	354	c.319C>G	c.(319-321)CTT>GTT	p.L107V	AUH_uc004arg.3_Missense_Mutation_p.L107V|AUH_uc011ltu.1_Missense_Mutation_p.L107V	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	107	RNA-binding.				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						ATTTTTATAAGATTTTTACTG	0.289		NaN											0	0	0	0.009096	0	4	17				
C9orf5	23731	broad.mit.edu	37	9	111849557	111849557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:111849557C>T	uc004bdt.3	-	6	1248	c.1216G>A	c.(1216-1218)GTG>ATG	p.V406M	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V406M	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	406						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		CCCCACCACACATGGTAGCGT	0.413		NaN											0	0	0	0.004656	0	21	30				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:137328351C>T	uc004cfb.2	+	10	1442	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	RXRA_uc004cfc.1_Missense_Mutation_p.S330F	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											0	0	0	0.006122	0	17	55		Valid		
SHROOM2	357	broad.mit.edu	37	X	9900619	9900619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:9900619C>T	uc004csu.1	+	6	3386	c.3296C>T	c.(3295-3297)CCT>CTT	p.P1099L	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1099					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				ACGCCATCCCCTGCGTCCCTG	0.692		NaN											0	0	0	0.001984	0	6	52				
DMD	1756	broad.mit.edu	37	X	32383166	32383166	+	Silent	SNP	G	G	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:32383166G>T	uc004dda.1	-	35	5240	c.4996C>A	c.(4996-4998)CGA>AGA	p.R1666R	DMD_uc004dcw.2_Silent_p.R322R|DMD_uc004dcx.2_Silent_p.R325R|DMD_uc004dcz.2_Silent_p.R1543R|DMD_uc004dcy.1_Silent_p.R1662R|DMD_uc004ddb.1_Silent_p.R1658R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1666	Spectrin 11.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCTGCTCGGGAGGTGACA	0.428		NaN											1	0	3.30226e-22	0.01441	4.24061e-22	49	44				
CXorf22	170063	broad.mit.edu	37	X	35993361	35993361	+	Silent	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:35993361G>A	uc004ddj.2	+	14	2411	c.2352G>A	c.(2350-2352)CAG>CAA	p.Q784Q	CXorf22_uc010ngv.2_Splice_Site	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	784										large_intestine(1)|lung(1)|ovary(1)	3						TTTTGCTCCAGTTAGATACTG	0.358		NaN											0	0	0	0.01441	0	90	83				
HDAC6	10013	broad.mit.edu	37	X	48682372	48682372	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:48682372A>G	uc011mmi.1	+	27	3439	c.3344A>G	c.(3343-3345)CAT>CGT	p.H1115R	HDAC6_uc004dks.1_Missense_Mutation_p.H1115R|HDAC6_uc010nig.1_Missense_Mutation_p.H963R|HDAC6_uc004dkt.1_Missense_Mutation_p.H1115R|HDAC6_uc011mmk.1_Missense_Mutation_p.H1096R|HDAC6_uc004dkv.1_Missense_Mutation_p.H763R|HDAC6_uc004dkw.1_Missense_Mutation_p.H763R|HDAC6_uc004dkx.1_Missense_Mutation_p.H478R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1115		Zinc 1.			aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGGTGTCCCCATTTGGTGGCA	0.517		NaN											0	0	0	0.007835	0	34	86				
PJA1	64219	broad.mit.edu	37	X	68382762	68382762	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:68382762G>A	uc004dxh.2	-	2	606	c.320C>T	c.(319-321)TCG>TTG	p.S107L	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.S52L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	107							zinc ion binding				0						TCTGCTACCCGAAGCTCTGTA	0.522		NaN											0	0	0	0.014323	0	20	99				
OGT	8473	broad.mit.edu	37	X	70775117	70775117	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:70775117A>G	uc004eaa.1	+	7	1023	c.806A>G	c.(805-807)TAC>TGC	p.Y269C	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.Y259C|OGT_uc004eac.2_Missense_Mutation_p.Y130C|OGT_uc004ead.2_Intron	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	269	TPR 7.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					GCTTGTGTATACTATGAGCAA	0.453		NaN											0	0	0	0.01441	0	64	72				
PSMD10	5716	broad.mit.edu	37	X	107331994	107331994	+	Silent	SNP	A	A	G			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:107331994A>G	uc004enp.1	-	2	299	c.201T>C	c.(199-201)AAT>AAC	p.N67N	ATG4A_uc004enr.2_5'Flank|ATG4A_uc004ent.2_5'Flank|ATG4A_uc004ens.2_5'Flank|ATG4A_uc011msl.1_5'Flank|ATG4A_uc010npi.2_5'Flank|PSMD10_uc004enq.1_Silent_p.N67N|PSMD10_uc010nph.1_Silent_p.N67N	NM_002814	NP_002805	O75832	PSD10_HUMAN	proteasome 26S non-ATPase subunit 10 isoform 1	67	Interaction with RELA.|ANK 2.|Interaction with RB1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			ovary(1)	1						CGTCTTTATCATTCACTGGCA	0.413		NaN											0	0	0	0.01441	0	212	193				
COL4A5	1287	broad.mit.edu	37	X	107938638	107938638	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:107938638C>A	uc004enz.1	+	51	5165	c.4963C>A	c.(4963-4965)CTG>ATG	p.L1655M	COL4A5_uc011mso.1_Missense_Mutation_p.L1652M|COL4A5_uc011msp.1_Missense_Mutation_p.L331M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1649	Collagen IV NC1.		L -> R (in APSX; adult type).|Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CAGCTTTTGGCTGGCAACTGT	0.463		NaN							Alport_syndrome_with_Diffuse_Leiomyomatosis				1	0	4.02486e-48	0.01441	5.40481e-48	54	68				
KLHL13	90293	broad.mit.edu	37	X	117054334	117054334	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:117054334C>A	uc004eql.2	-	3	303	c.241_splice	c.e3-1	p.G81_splice	KLHL13_uc004eqk.2_Splice_Site_p.G30_splice|KLHL13_uc011mtn.1_Splice_Site|KLHL13_uc011mto.1_Splice_Site_p.G75_splice|KLHL13_uc011mtp.1_Splice_Site_p.G83_splice|KLHL13_uc004eqm.2_Splice_Site_p.G30_splice|KLHL13_uc011mtq.1_Splice_Site_p.G65_splice	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13						cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						GGTCAAAGCCCTACAACAAGA	0.408		NaN											1	0	3.94638e-17	0.01441	4.7804e-17	46	49				
THOC2	57187	broad.mit.edu	37	X	122754808	122754808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:122754808G>A	uc004etu.2	-	32	4257	c.4225C>T	c.(4225-4227)CGC>TGC	p.R1409C	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R230C	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1409	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						ATTTTGCGGCGTTTTTGTTCT	0.398		NaN											0	0	0	0.01441	0	147	118				
FRMD7	90167	broad.mit.edu	37	X	131233527	131233527	+	Silent	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:131233527C>T	uc004ewn.2	-	3	352	c.174G>A	c.(172-174)GAG>GAA	p.E58E	FRMD7_uc011muy.1_Silent_p.E58E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	58	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCTTCAAAAGCTCCAGCCAAA	0.343		NaN											0	0	0	0.01441	0	50	117				
PLXNB3	5365	broad.mit.edu	37	X	153038980	153038980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:153038980C>T	uc004fii.2	+	19	3265	c.3091C>T	c.(3091-3093)CGA>TGA	p.R1031*	PLXNB3_uc010nuk.2_Nonsense_Mutation_p.R1054*|PLXNB3_uc011mzd.1_Nonsense_Mutation_p.R670*|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1031	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGTGGGCGACTGATCCG	0.687		NaN											0	0	0	0.009718	0	36	28				
CHD5	26038	broad.mit.edu	37	1	6219573	6219573	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6219573C>T	uc001amb.1	-	3	310	c.210G>A	c.(208-210)GGG>GGA	p.G70G		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	70	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATCATTGCTCCCCTGGAAAA	0.507		NaN											0	0	0	0.038147	0	6	7				
TNFRSF25	8718	broad.mit.edu	37	1	6521714	6521714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6521714C>T	uc001ane.2	-	10	1122	c.1034G>A	c.(1033-1035)CGG>CAG	p.R345Q	TNFRSF25_uc001ana.2_Missense_Mutation_p.R162Q|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R118Q|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R308Q|TNFRSF25_uc001ang.2_Missense_Mutation_p.R300Q|TNFRSF25_uc001anh.2_Missense_Mutation_p.R354Q	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	345	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCCAGCGCCGCGCTGGGAC	0.692		NaN											0	0	0	0.115264	0	3	12				
RERE	473	broad.mit.edu	37	1	8418613	8418613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:8418613C>T	uc001ape.2	-	21	4792	c.3982G>A	c.(3982-3984)GAG>AAG	p.E1328K	RERE_uc001apf.2_Missense_Mutation_p.E1328K|RERE_uc001apd.2_Missense_Mutation_p.E774K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1328					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCTTCACCTCGAAGCCCGGC	0.721		NaN											0	0	0	0.043863	0	17	8				
ARID1A	8289	broad.mit.edu	37	1	27087417	27087417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:27087417C>G	uc001bmv.1	+	5	2364	c.1991C>G	c.(1990-1992)TCA>TGA	p.S664*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S281*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	664					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S664*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCACATCAGGGATTTCC	0.517		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.139131	0	74	86		Valid		
PPCS	79717	broad.mit.edu	37	1	42925522	42925522	+	Silent	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:42925522A>G	uc001chl.2	+	3	925	c.861A>G	c.(859-861)AAA>AAG	p.K287K	PPCS_uc001chk.2_Silent_p.K114K	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	287					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAATAGAAAAAGGCGTAGAGA	0.388		NaN											0	0	0	0.115264	0	3	93				
MYSM1	114803	broad.mit.edu	37	1	59127114	59127114	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:59127114G>T	uc009wab.1	-	18	2257	c.2234C>A	c.(2233-2235)ACA>AAA	p.T745K	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.T151K|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	745					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TATCCATCTTGTCTTTTCAAA	0.373		NaN											1	0	0.00909568	0.150653	0.00923144	3	56				
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:78958573G>A	uc001din.2	+	2	411	c.145G>A	c.(145-147)GCC>ACC	p.A49T	PTGFR_uc001dim.2_Missense_Mutation_p.A49T	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	49	Helical; Name=1; (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448		NaN											0	0	0	0.139131	0	61	49				
S1PR1	1901	broad.mit.edu	37	1	101705632	101705632	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:101705632C>T	uc001dud.2	+	2	1606	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D	S1PR1_uc009weg.2_Silent_p.D364D	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	364	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CCCAGAAAGACGAAGGGGACA	0.547		NaN											0	0	0	0.163468	0	29	55				
SNX27	81609	broad.mit.edu	37	1	151640977	151640977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:151640977C>T	uc001eyn.1	+	7	1031	c.1015C>T	c.(1015-1017)CAC>TAC	p.H339Y	SNX27_uc001eyo.2_Missense_Mutation_p.H246Y|SNX27_uc001eyp.2_Missense_Mutation_p.H153Y	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	339	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTTTCCTCACAAACTCTA	0.363		NaN											0	0	0	0.163468	0	25	185				
HRNR	388697	broad.mit.edu	37	1	152188034	152188034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152188034C>G	uc001ezt.1	-	3	6147	c.6071G>C	c.(6070-6072)GGA>GCA	p.G2024A		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2024	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGATGACTGTCCTGATGCAGA	0.562		NaN											0	0	0	0.139131	0	84	269				
FLG	2312	broad.mit.edu	37	1	152277090	152277090	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152277090G>A	uc001ezu.1	-	3	10308	c.10272C>T	c.(10270-10272)CAC>CAT	p.H3424H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3424	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597		NaN							Ichthyosis				0	0	0	0.139131	0	249	349				
FLG	2312	broad.mit.edu	37	1	152283897	152283897	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152283897G>A	uc001ezu.1	-	3	3501	c.3465C>T	c.(3463-3465)CAC>CAT	p.H1155H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1155	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597		NaN							Ichthyosis				0	0	0	0.139131	0	15	616				
C1orf129	80133	broad.mit.edu	37	1	170961422	170961422	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:170961422G>A	uc001ghg.2	+	12	1276	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	C1orf129_uc009wvy.2_Silent_p.T189T|C1orf129_uc010plz.1_Silent_p.T382T	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	382							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACACCGTAACGGAAGGGAAAC	0.473		NaN											0	0	0	0.108266	0	23	118				
SYT14	255928	broad.mit.edu	37	1	210334177	210334177	+	Silent	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:210334177T>C	uc009xcv.2	+	8	1530	c.1458T>C	c.(1456-1458)ACT>ACC	p.T486T	SYT14_uc001hhs.3_Silent_p.T550T|SYT14_uc001hht.3_Silent_p.T505T|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.T531T|SYT14_uc010pso.1_Silent_p.T448T|SYT14_uc010psp.1_Silent_p.T24T	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	486	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATAAGGAAACTTTTGTCTTTC	0.408		NaN											0	0	0	0.139131	0	73	12				
KLF6	1316	broad.mit.edu	37	10	3823885	3823885	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3823885C>T	uc001iha.2	-	2	891	c.624G>A	c.(622-624)AGG>AGA	p.R208R	KLF6_uc010qaj.1_Silent_p.R208R|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Silent_p.R208R	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	208	C2H2-type 1.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		TGTAAACTTTCCTGCAGCCGT	0.657		NaN									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.150653	0	4	56				
KLF6	1316	broad.mit.edu	37	10	3824277	3824277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3824277C>A	uc001iha.2	-	2	499	c.232G>T	c.(232-234)GAA>TAA	p.E78*	KLF6_uc010qaj.1_Nonsense_Mutation_p.E78*|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Nonsense_Mutation_p.E78*|KLF6_uc001ihb.2_Nonsense_Mutation_p.E78*	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	78					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		ATCTTCAGTTCGGATTCCTCC	0.483		NaN									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00278032	0.076483	0.00288644	23	159				
ERCC6	2074	broad.mit.edu	37	10	50669504	50669504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:50669504C>T	uc001jhs.3	-	19	4031	c.3877G>A	c.(3877-3879)GCC>ACC	p.A1293T	ERCC6_uc009xod.2_Missense_Mutation_p.A453T|ERCC6_uc010qgr.1_Missense_Mutation_p.A663T|ERCC6_uc001jhr.3_Missense_Mutation_p.A661T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1293					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCTTTCAGGGCATCCTGGGCC	0.592		NaN						Direct_reversal_of_damage|NER					0	0	0	0.069288	0	21	28				
SH2D4B	387694	broad.mit.edu	37	10	82403797	82403797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:82403797G>A	uc001kck.1	+	7	1464	c.1034G>A	c.(1033-1035)CGG>CAG	p.R345Q	SH2D4B_uc001kcl.1_Missense_Mutation_p.R297Q|SH2D4B_uc001kcm.1_Missense_Mutation_p.G166R|SH2D4B_uc001kcn.1_RNA	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	Error:Variant_position_missing_in_Q5SQS7_after_alignment											0			Colorectal(32;0.229)			GGAACCCTGCGGACAGAGGGA	0.373		NaN											0	0	0	0.062417	0	14	59				
NRG3	10718	broad.mit.edu	37	10	84498404	84498404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:84498404C>T	uc001kco.2	+	3	1052	c.1025C>T	c.(1024-1026)CCA>CTA	p.P342L	NRG3_uc010qlz.1_Missense_Mutation_p.P342L|NRG3_uc001kcp.2_Missense_Mutation_p.P121L|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	342	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTATCGGATCCAAGTAGGTCA	0.393		NaN											0	0	0	0.014758	0	4	44				
PIK3AP1	118788	broad.mit.edu	37	10	98411088	98411088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:98411088G>C	uc001kmq.2	-	6	1033	c.905C>G	c.(904-906)ACC>AGC	p.T302S	PIK3AP1_uc001kmp.2_Missense_Mutation_p.T124S	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	302	DBB.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGGATTCGGTTAGCAGTTT	0.428		NaN											0	0	0	0.160694	0	16	36				
RRP12	23223	broad.mit.edu	37	10	99133483	99133483	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:99133483G>A	uc001knf.2	-	17	2014	c.1875C>T	c.(1873-1875)CTC>CTT	p.L625L	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.L343L|RRP12_uc010qou.1_Silent_p.L564L|RRP12_uc009xvn.2_Silent_p.L525L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	625						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACCCAGGCAGGAGTGTCCACA	0.622		NaN											0	0	0	0.080422	0	34	12				
OR9Q2	219957	broad.mit.edu	37	11	57958327	57958327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:57958327G>A	uc010rka.1	+	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				GCCTATGACCGCTACACGGCC	0.567		NaN											0	0	0	0.139131	0	45	88				
MPEG1	219972	broad.mit.edu	37	11	58980208	58980208	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:58980208T>C	uc001nnu.3	-	1	287	c.131A>G	c.(130-132)GAA>GGA	p.E44G		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	44	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				AGGTAGGACTTCCAGGACAGG	0.522		NaN											0	0	0	0.014758	0	5	244				
SCGB1D1	10648	broad.mit.edu	37	11	61959667	61959667	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:61959667C>T	uc001nsz.1	+	2	242	c.195C>T	c.(193-195)TGC>TGT	p.C65C		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	65						extracellular space	binding			skin(1)	1						TGAAGAAATGCGTGGATACGA	0.443		NaN											0	0	0	0.139131	0	83	65				
GANAB	23193	broad.mit.edu	37	11	62393905	62393905	+	Silent	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:62393905T>A	uc001nub.2	-	22	2559	c.2526A>T	c.(2524-2526)GGA>GGT	p.G842G	GANAB_uc001ntz.2_Silent_p.G29G|GANAB_uc001nua.2_Silent_p.G864G|GANAB_uc001nuc.2_Silent_p.G745G|GANAB_uc010rma.1_Silent_p.G750G|GANAB_uc010rmb.1_Silent_p.G728G	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	842					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GAAAGAGCTCTCCTTGAGCTG	0.552		NaN											0	0	0	0.074837	0	29	79				
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:64033975C>A	uc001nzb.2	+	29	3365	c.3365C>A	c.(3364-3366)ACG>AAG	p.T1122K	PLCB3_uc009ypg.1_Missense_Mutation_p.T1122K|PLCB3_uc009yph.1_Missense_Mutation_p.T1055K|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						AGGGAACTGACGGAGATTAAC	0.652		NaN											1	0	6.21321e-17	0.076483	7.10081e-17	20	90				
KDELC2	143888	broad.mit.edu	37	11	108357060	108357060	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:108357060A>G	uc001pkj.2	-	3	574	c.508T>C	c.(508-510)TTT>CTT	p.F170L	KDELC2_uc001pki.2_Missense_Mutation_p.F114L	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	170						endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATGCTGGGAAAGGAAGCAAAA	0.453		NaN											0	0	0	0.150653	0	4	63				
ACRBP	84519	broad.mit.edu	37	12	6756060	6756060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:6756060C>A	uc001qpu.1	-	2	210	c.162G>T	c.(160-162)TGG>TGT	p.W54C	ACRBP_uc010sfg.1_Missense_Mutation_p.W54C	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	54						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						TCTCTGCCTTCCAGGTTGGAG	0.602		NaN											1	0	0.00909568	0.150653	0.00923144	4	78				
IFLTD1	160492	broad.mit.edu	37	12	25672949	25672949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:25672949C>T	uc001rgs.2	-	6	946	c.796G>A	c.(796-798)GTT>ATT	p.V266I	IFLTD1_uc001rgt.1_Missense_Mutation_p.V169I|IFLTD1_uc010sji.1_Missense_Mutation_p.V287I|IFLTD1_uc010sjj.1_Missense_Mutation_p.V203I|IFLTD1_uc009zjc.2_Missense_Mutation_p.V247I	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	266						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTAAATTCAACGTCAGCATCT	0.373		NaN											0	0	0	0.153744	0	29	34				
PTHLH	5744	broad.mit.edu	37	12	28116292	28116292	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:28116292C>T	uc001rik.2	-	3	816	c.513G>A	c.(511-513)GAG>GAA	p.E171E	PTHLH_uc001ril.2_Silent_p.E171E|PTHLH_uc001rim.2_Silent_p.E171E|PTHLH_uc001rin.2_Silent_p.E171E	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	171					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					GTGAATCGAGCTCCAGCGACG	0.582		NaN											0	0	0	0.069288	0	17	33				
MLL2	8085	broad.mit.edu	37	12	49424741	49424741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:49424741G>A	uc001rta.3	-	40	13606	c.13606C>T	c.(13606-13608)CGA>TGA	p.R4536*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4536					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCTTCTTTCGGGAGCTCACC	0.592		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.058154	0	7	25		Valid		
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:62148677G>A	uc001sqw.2	-	3	1748	c.235C>T	c.(235-237)CGA>TGA	p.R79*	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	79						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502		NaN											0	0	0	0.153744	0	25	17				
POLR3B	55703	broad.mit.edu	37	12	106824210	106824210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:106824210C>A	uc001tlp.2	+	14	1645	c.1423C>A	c.(1423-1425)CAG>AAG	p.Q475K	POLR3B_uc001tlq.2_Missense_Mutation_p.Q417K	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	475					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						CCAGCCATCTCAGTGGGGAAT	0.493		NaN											1	0	2.7689e-08	0.02938	3.01256e-08	4	114				
CUX2	23316	broad.mit.edu	37	12	111786052	111786052	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:111786052A>G	uc001tsa.1	+	22	4537	c.4384A>G	c.(4384-4386)ATG>GTG	p.M1462V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1462						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GCATGAGAAGATGGCCAATCT	0.612		NaN											0	0	0	0.131918	0	39	220				
DNAH10	196385	broad.mit.edu	37	12	124354930	124354930	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:124354930T>C	uc001uft.3	+	43	7208	c.7183T>C	c.(7183-7185)TAT>CAT	p.Y2395H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2395					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCAACCTTGTATGACTTTCA	0.388		NaN											0	0	0	0.049695	0	20	21				
POLR1D	51082	broad.mit.edu	37	13	28197152	28197152	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:28197152G>C	uc010tdm.1	+	3	1197	c.167G>C	c.(166-168)CGT>CCT	p.R56P	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.R56P|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	56			R -> C (in TCS2).		termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		AATTCTCTACGTTACATGATC	0.453		NaN											0	0	0	0.049695	0	17	52				
SLC7A1	6541	broad.mit.edu	37	13	30091860	30091860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:30091860C>T	uc001uso.2	-	10	1747	c.1360G>A	c.(1360-1362)GAC>AAC	p.D454N		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	454	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCATTTTGGTCTGCTGGATCT	0.493		NaN											0	0	0	0.108266	0	24	85				
BRCA2	675	broad.mit.edu	37	13	32910615	32910615	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:32910615C>A	uc001uub.1	+	11	2350	c.2123C>A	c.(2122-2124)TCT>TAT	p.S708Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	708	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGCTGATTCTCTGTCATGC	0.358		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			1	0	3.86212e-05	0.069234	4.1035e-05	11	32				
FGF14	2259	broad.mit.edu	37	13	103053996	103053996	+	Silent	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:103053996A>T	uc001vpf.2	-	1	129	c.33T>A	c.(31-33)ACT>ACA	p.T11T		NM_175929	NP_787125	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1B	Error:Variant_position_missing_in_Q92915_after_alignment					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTGAAATCAGTTCTCCTGA	0.413		NaN											0	0	0	0.074837	0	30	3				
PTGDR	5729	broad.mit.edu	37	14	52735003	52735003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:52735003C>A	uc001wzq.2	+	1	573	c.471C>A	c.(469-471)AGC>AGA	p.S157R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	157	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGTGGTGAGCGCCTTCTCCC	0.637		NaN											1	0	0.00024832	0.150653	0.000259781	3	55				
AHNAK2	113146	broad.mit.edu	37	14	105416701	105416701	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:105416701G>T	uc010axc.1	-	7	5207	c.5087C>A	c.(5086-5088)TCC>TAC	p.S1696Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.S1596Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1696						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.612		NaN											1	0	6.72482e-11	0.132662	7.55848e-11	7	272				
OCA2	4948	broad.mit.edu	37	15	28231744	28231744	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:28231744A>G	uc001zbh.3	-	12	1338	c.1228T>C	c.(1228-1230)TGT>CGT	p.C410R	OCA2_uc010ayv.2_Missense_Mutation_p.C386R	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	410	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTACAGCACAATAATCGAAA	0.284		NaN							Oculocutaneous_Albinism				0	0	0	0.139131	0	63	23				
MYO5A	4644	broad.mit.edu	37	15	52662482	52662482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:52662482G>A	uc002aby.2	-	22	3194	c.2950C>T	c.(2950-2952)CGG>TGG	p.R984W	MYO5A_uc002abx.3_Missense_Mutation_p.R984W|MYO5A_uc010uge.1_Missense_Mutation_p.R853W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	984	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTAAGGACCCGCCCAGTGGCA	0.448		NaN											0	0	0	0.11126	0	41	7				
CCDC78	124093	broad.mit.edu	37	16	775562	775562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:775562G>A	uc002cjg.2	-	4	392	c.286C>T	c.(286-288)CGG>TGG	p.R96W	CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R170W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R96W|CCDC78_uc002cjk.2_Missense_Mutation_p.R96W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	96	Potential.									central_nervous_system(1)	1		Hepatocellular(780;0.0218)				TCCAGTACCCGGCTCTCCAGC	0.662		NaN											0	0	0	0.080422	0	30	2				
SH2B1	25970	broad.mit.edu	37	16	28877696	28877696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:28877696C>T	uc002dri.2	+	4	720	c.281C>T	c.(280-282)CCC>CTC	p.P94L	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.P94L|SH2B1_uc002drk.2_Missense_Mutation_p.P94L|SH2B1_uc002drl.2_Missense_Mutation_p.P94L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.P94L|SH2B1_uc002drm.2_Missense_Mutation_p.P94L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	94	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						ATCCTGGCTCCCCTGAGCCCT	0.652		NaN											0	0	0	0.160694	0	15	16				
ATMIN	23300	broad.mit.edu	37	16	81078139	81078139	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:81078139C>G	uc002ffz.1	+	4	2054	c.2036C>G	c.(2035-2037)GCA>GGA	p.A679G	ATMIN_uc002fga.2_Missense_Mutation_p.A521G|ATMIN_uc010vnn.1_Missense_Mutation_p.A450G|ATMIN_uc002fgb.1_Missense_Mutation_p.A521G	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	679					response to DNA damage stimulus	nucleus	zinc ion binding				0						TTCTTACTCGCAGATACCTCT	0.443		NaN											0	0	0	0.173368	0	33	141				
OR3A1	4994	broad.mit.edu	37	17	3195282	3195282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:3195282C>T	uc002fvh.1	-	1	595	c.595G>A	c.(595-597)GAG>AAG	p.E199K		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						AGCAGCAGCTCATTGAGTTGG	0.522		NaN											0	0	0	0.021553	0	5	94				
C17orf74	201243	broad.mit.edu	37	17	7329763	7329763	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7329763C>T	uc002ggw.2	+	3	526	c.453C>T	c.(451-453)ATC>ATT	p.I151I	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	151						integral to membrane					0		Prostate(122;0.157)				ACAGACAAATCCCCCATAGCC	0.413		NaN											0	0	0	0.074837	0	36	27				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.043863	0	19	3		Valid		
ATP6V0A1	535	broad.mit.edu	37	17	40660605	40660605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:40660605G>A	uc002hzr.2	+	19	2295	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.V667M|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.V356M|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.V569M|ATP6V0A1_uc002hzt.2_Intron	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	710	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGAGGACGAAGTGGTAAGATG	0.517		NaN											0	0	0	0.139131	0	47	44				
AOC3	8639	broad.mit.edu	37	17	41008400	41008400	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:41008400A>C	uc002ibv.2	+	4	2285	c.2125A>C	c.(2125-2127)AAC>CAC	p.N709H		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	709	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCGACCCTATAACTTCTTTGA	0.572		NaN											0	0	0	0.09319	0	10	76				
ZNF652	22834	broad.mit.edu	37	17	47388796	47388796	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47388796T>C	uc002iov.3	-	5	1651	c.1187A>G	c.(1186-1188)TAC>TGC	p.Y396C	ZNF652_uc002iow.2_Missense_Mutation_p.Y396C|ZNF652_uc002iou.3_RNA	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	396	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTACTTGTACTGAAACCT	0.458		NaN											0	0	0	0.139131	0	106	160				
NXPH3	11248	broad.mit.edu	37	17	47656111	47656111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47656111G>A	uc002ipa.2	+	2	492	c.208G>A	c.(208-210)GCC>ACC	p.A70T	NXPH3_uc010wlw.1_Missense_Mutation_p.A70T	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	70	II.				neuropeptide signaling pathway	extracellular region				pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGGGCTGCTGGCCCCGCCTGG	0.682		NaN											0	0	0	0.131918	0	40	48				
GPR142	350383	broad.mit.edu	37	17	72363883	72363883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:72363883G>A	uc010wqy.1	+	1	239	c.239G>A	c.(238-240)CGC>CAC	p.R80H	GPR142_uc010wqx.1_5'UTR	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	80	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGCAGTTTCCGCCAGGTGAAT	0.562		NaN											0	0	0	0.125774	0	26	28				
TCF4	6925	broad.mit.edu	37	18	53254339	53254339	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr18:53254339G>A	uc002lfz.2	-	2	621	c.9C>T	c.(7-9)CAC>CAT	p.H3H	TCF4_uc010xdx.1_5'Flank|TCF4_uc010dph.1_Silent_p.H3H|TCF4_uc010xdy.1_Intron|TCF4_uc002lga.2_Silent_p.H105H|TCF4_uc010dpi.2_Silent_p.H3H	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	3	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTCGCTGTTGGTGATGCATTT	0.423		NaN											0	0	0	0.131918	0	37	14				
TMPRSS9	360200	broad.mit.edu	37	19	2403105	2403105	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2403105C>T	uc010xgx.1	+	5	480	c.480C>T	c.(478-480)TCC>TCT	p.S160S	TMPRSS9_uc002lvv.1_Silent_p.S194S	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	160	LDL-receptor class A.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTTTTCCTGCGGGAACA	0.572		NaN											0	0	0	0.160694	0	12	8				
DIRAS1	148252	broad.mit.edu	37	19	2717599	2717599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2717599G>A	uc002lwf.3	-	2	364	c.206C>T	c.(205-207)CCG>CTG	p.P69L		NM_145173	NP_660156	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	69					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCATGGCCGGGAACTGGTG	0.622		NaN											0	0	0	0.115264	0	3	38				
MUC16	94025	broad.mit.edu	37	19	9061676	9061676	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:9061676C>T	uc002mkp.2	-	3	25974	c.25770G>A	c.(25768-25770)GTG>GTA	p.V8590V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8592	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAAGTGCAGTCACAGGATGAG	0.507		NaN											0	0	0	0.099896	0	26	15				
CNN1	1264	broad.mit.edu	37	19	11660528	11660528	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:11660528A>C	uc002msc.1	+	7	976	c.812A>C	c.(811-813)AAG>ACG	p.K271T	CNN1_uc010xmb.1_Missense_Mutation_p.K221T|CNN1_uc010xmc.1_Missense_Mutation_p.K221T	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	271					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						TACGACCCCAAGTACTGTCTG	0.622		NaN											0	0	0	0.132662	0	13	73				
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:22155320C>T	uc002nqp.2	-	5	2365	c.2216G>A	c.(2215-2217)GGC>GAC	p.G739D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373		NaN											0	0	0	0.160694	0	17	67				
KIAA0355	9710	broad.mit.edu	37	19	34810899	34810899	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:34810899T>C	uc002nvd.3	+	3	1442	c.583T>C	c.(583-585)TCT>CCT	p.S195P		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	195										ovary(1)	1	Esophageal squamous(110;0.162)					GGTGGCTCACTCTTGCTTTGC	0.532		NaN											0	0	0	0.150653	0	3	140				
CYP2A13	1553	broad.mit.edu	37	19	41594393	41594393	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:41594393T>G	uc002opt.2	+	1	26	c.17T>G	c.(16-18)CTG>CGG	p.L6R		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	6					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	GCCTCAGGGCTGCTTCTGGTG	0.572		NaN											0	0	0	0.11911	0	11	32				
CADM4	199731	broad.mit.edu	37	19	44129330	44129330	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:44129330G>A	uc002oxc.1	-	7	877	c.828C>T	c.(826-828)CTC>CTT	p.L276L		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	276	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				CCGGCAGCGTGAGCGTCTCTC	0.607		NaN											0	0	0	0.0918	0	24	22				
LTBP1	4052	broad.mit.edu	37	2	33359935	33359935	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:33359935G>C	uc002ros.2	+	5	1109	c.1109G>C	c.(1108-1110)TGT>TCT	p.C370S	LTBP1_uc002rot.2_Missense_Mutation_p.C44S|LTBP1_uc002rou.2_Missense_Mutation_p.C44S|LTBP1_uc002rov.2_Missense_Mutation_p.C44S|LTBP1_uc010ymz.1_Missense_Mutation_p.C44S|LTBP1_uc010yna.1_Missense_Mutation_p.C44S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	370					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCAGCTGTCAGAACAGC	0.547		NaN											0	0	0	0.160694	0	16	58				
AFF3	3899	broad.mit.edu	37	2	100623238	100623238	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:100623238C>T	uc002tag.2	-	6	965	c.729G>A	c.(727-729)CAG>CAA	p.Q243Q	AFF3_uc002taf.2_Silent_p.Q268Q|AFF3_uc010fiq.1_Silent_p.Q243Q|AFF3_uc010yvr.1_Silent_p.Q397Q|AFF3_uc002tah.1_Silent_p.Q268Q|AFF3_uc010fir.1_Silent_p.Q320Q|AFF3_uc002tai.2_Silent_p.Q165Q	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	243					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CATCAGGGGCCTGATCTTGGC	0.572		NaN											0	0	0	0.055883	0	21	8				
BUB1	699	broad.mit.edu	37	2	111395670	111395670	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:111395670A>T	uc002tgc.2	-	25	3241	c.3129T>A	c.(3127-3129)CAT>CAA	p.H1043Q	BUB1_uc010yxh.1_Missense_Mutation_p.H1023Q|BUB1_uc010fkb.2_Missense_Mutation_p.H986Q	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	1043	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGATGGAAGATGATGACAAT	0.333		NaN											0	0	0	0.150653	0	4	35				
NCOA6	23054	broad.mit.edu	37	20	33329786	33329786	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:33329786C>A	uc002xav.2	-	12	6845	c.4274G>T	c.(4273-4275)AGT>ATT	p.S1425I	NCOA6_uc002xaw.2_Missense_Mutation_p.S1425I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1425					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						CTGGCAATCACTGTCCTGAGG	0.468		NaN											1	0	4.7546e-09	0.146539	5.30021e-09	15	96				
RBL1	5933	broad.mit.edu	37	20	35724278	35724278	+	Silent	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:35724278C>A	uc002xgi.2	-	1	133	c.54G>T	c.(52-54)GGG>GGT	p.G18G	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.G18G|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	18					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GTAGCGCCTCCCCGGCTGCGG	0.697		NaN											1	0	3.09899e-07	0.047766	3.34494e-07	5	4				
ZNF831	128611	broad.mit.edu	37	20	57767397	57767397	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:57767397C>T	uc002yan.2	+	1	1323	c.1323C>T	c.(1321-1323)GAC>GAT	p.D441D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	441						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCAGCATCGACCTGCCCACGC	0.677		NaN											0	0	0	0.021553	0	5	23				
HDAC11	79885	broad.mit.edu	37	3	13522882	13522882	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:13522882A>C	uc003bxy.2	+	2	272	c.139A>C	c.(139-141)AAT>CAT	p.N47H	HDAC11_uc010heb.2_Missense_Mutation_p.N19H|HDAC11_uc011aux.1_5'UTR|HDAC11_uc003bxz.2_Missense_Mutation_p.N19H|HDAC11_uc011auy.1_Missense_Mutation_p.N19H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	47	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						CAAAGTGATCAATTTCCTAAA	0.542		NaN											0	0	0	0.139131	0	52	149				
ZNF445	353274	broad.mit.edu	37	3	44488285	44488285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:44488285T>G	uc003cnf.2	-	8	3226	c.2878A>C	c.(2878-2880)AGC>CGC	p.S960R	ZNF445_uc011azv.1_Missense_Mutation_p.S948R|ZNF445_uc011azw.1_Missense_Mutation_p.S960R	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	960					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTCTGGCTGCAAGCTTCT	0.478		NaN											0	0	0	0.055883	0	20	63				
PDZRN3	23024	broad.mit.edu	37	3	73433184	73433184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:73433184C>T	uc003dpl.1	-	10	2629	c.2533G>A	c.(2533-2535)GGG>AGG	p.G845R	PDZRN3_uc011bgh.1_Missense_Mutation_p.G502R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G543R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G562R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G565R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	845							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCGGCTCCCGTCGCTGGCT	0.667		NaN											0	0	0	0.146539	0	14	11				
PARP14	54625	broad.mit.edu	37	3	122446797	122446797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:122446797C>T	uc003efq.3	+	16	5139	c.5080C>T	c.(5080-5082)CGA>TGA	p.R1694*	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1411*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1694	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		ACACGTCAATCGAAATGGCTT	0.507		NaN											0	0	0	0.173368	0	28	35				
MYLK	4638	broad.mit.edu	37	3	123419212	123419212	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:123419212G>A	uc003ego.2	-	18	3385	c.3103C>T	c.(3103-3105)CTG>TTG	p.L1035L	MYLK_uc011bjw.1_Silent_p.L1035L|MYLK_uc003egp.2_Silent_p.L966L|MYLK_uc003egq.2_Silent_p.L1035L|MYLK_uc003egr.2_Silent_p.L966L|MYLK_uc003egs.2_Silent_p.L859L|MYLK_uc003egt.2_Silent_p.L226L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1035	2-4.|6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATTGGCTTCAGGGTCTCAGCA	0.577		NaN											0	0	0	0.139131	0	112	124				
ZIC4	84107	broad.mit.edu	37	3	147114157	147114157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:147114157C>T	uc003ewd.1	-	3	443	c.170G>A	c.(169-171)CGT>CAT	p.R57H	ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.R107H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	57						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						ATTCAAAGGACGGCTGGGGGA	0.726		NaN											0	0	0	0.11911	0	12	32				
GABRA4	2557	broad.mit.edu	37	4	46930266	46930266	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:46930266C>T	uc003gxg.2	-	9	1780	c.1641G>A	c.(1639-1641)ATG>ATA	p.M547I		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	547					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTCTCCATAGTGTCCT	0.294		NaN											0	0	0	0.150653	0	3	119				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:71347033C>T	uc011cat.1	+	4	860	c.572C>T	c.(571-573)GCC>GTC	p.A191V	MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	191	2.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587		NaN											0	0	0	0.150653	0	4	154				
EXOSC9	5393	broad.mit.edu	37	4	122728756	122728756	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:122728756G>A	uc003iea.2	+	6	692	c.584G>A	c.(583-585)AGT>AAT	p.S195N	EXOSC9_uc003idz.2_Missense_Mutation_p.S195N|EXOSC9_uc003ieb.2_Missense_Mutation_p.S179N|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						ATTTGTGTCAGTTTTGCCTTT	0.368		NaN											0	0	0	0.09319	0	10	77				
ADAMTS12	81792	broad.mit.edu	37	5	33576989	33576989	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:33576989T>A	uc003jia.1	-	19	3305	c.3142A>T	c.(3142-3144)ATC>TTC	p.I1048F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1048	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGGCTGCTGATTGCTGGAGTG	0.557		NaN								HNSCC(64;0.19)			0	0	0	0.124865	0	40	52				
PCDHB3	56132	broad.mit.edu	37	5	140482387	140482387	+	Missense_Mutation	SNP	G	G	T	rs113521664		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140482387G>T	uc003lio.2	+	1	2154	c.2154G>T	c.(2152-2154)AGG>AGT	p.R718S	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	718	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGG	0.667		NaN											1	0	1.54771e-57	0.139131	1.81456e-57	90	82				
PCDHB14	56122	broad.mit.edu	37	5	140604519	140604519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140604519G>A	uc003ljb.2	+	1	1442	c.1442G>A	c.(1441-1443)GGC>GAC	p.G481D	PCDHB14_uc011dal.1_Missense_Mutation_p.G328D	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	481	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACTCAGGCACCAACGCC	0.647		NaN											0	0	0	0.139131	0	70	124				
WWC1	23286	broad.mit.edu	37	5	167835653	167835653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:167835653G>A	uc003lzu.2	+	7	955	c.862G>A	c.(862-864)GGA>AGA	p.G288R	WWC1_uc003lzv.2_Missense_Mutation_p.G288R|WWC1_uc011den.1_Missense_Mutation_p.G288R|WWC1_uc003lzw.2_Missense_Mutation_p.G87R	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	288					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGACATCTCGGGAAGCGTGAG	0.592		NaN											0	0	0	0.160694	0	15	176				
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:1313343C>A	uc003mtl.3	+	1	669	c.404C>A	c.(403-405)TCG>TAG	p.S135*		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.592		NaN											1	0	1.04594e-18	0.086207	1.20549e-18	31	25		Valid		
GPX6	257202	broad.mit.edu	37	6	28478665	28478665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:28478665C>G	uc011dlj.1	-	2	154	c.104G>C	c.(103-105)GGG>GCG	p.G35A	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	35					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	GCCTGTTACCCCTTTGTTGCA	0.408		NaN											0	0	0	0.139131	0	34	31				
VPS52	6293	broad.mit.edu	37	6	33232186	33232186	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:33232186G>C	uc003odm.1	-	14	1699	c.1489C>G	c.(1489-1491)CAG>GAG	p.Q497E	VPS52_uc003odn.1_Missense_Mutation_p.Q308E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	497					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						CCTAGGCGCTGGGGGTCAGTG	0.557		NaN											0	0	0	0.139131	0	43	51				
PHF3	23469	broad.mit.edu	37	6	64390062	64390062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:64390062G>A	uc003pep.1	+	2	432	c.406G>A	c.(406-408)GAA>AAA	p.E136K	PHF3_uc010kaf.1_Missense_Mutation_p.E136K|PHF3_uc003pem.2_Missense_Mutation_p.E89K|PHF3_uc010kag.1_Missense_Mutation_p.E48K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E48K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E136K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	136					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATGGCACAAGGTAATCCTTT	0.368		NaN											0	0	0	0.139131	0	77	73				
RIMS1	22999	broad.mit.edu	37	6	72957746	72957747	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:72957746_72957747GG>CT	uc003pga.2	+	12	2234_2235	c.2157_2158GG>CT	c.(2155-2160)ATGGAA>ATCTAA	p.719_720ME>I*	RIMS1_uc011dyb.1_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc010kar.2_Nonsense_Mutation_p.112_113ME>I*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.178_179ME>I*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kas.1_Nonsense_Mutation_p.178_179ME>I*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	719_720					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCAGAAGATGGAAAGGCCTTC	0.332		NaN											0	0	0	0.115264	0	22	61				
OPRM1	4988	broad.mit.edu	37	6	154412526	154412526	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:154412526G>A	uc003qpr.2	+	3	1320	c.1083G>A	c.(1081-1083)GAG>GAA	p.E361E	OPRM1_uc011efc.1_Silent_p.E280E|OPRM1_uc011efd.1_Silent_p.E261E|OPRM1_uc011efe.1_Silent_p.E454E|OPRM1_uc003qpn.2_Silent_p.E361E|OPRM1_uc003qpo.1_Silent_p.E361E|OPRM1_uc011eff.1_Silent_p.E361E|OPRM1_uc011efg.1_Silent_p.E361E|OPRM1_uc011efh.1_Silent_p.E361E|OPRM1_uc003qpq.1_Silent_p.E361E|OPRM1_uc003qpt.1_Silent_p.E361E|OPRM1_uc011efi.1_Silent_p.E361E|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Silent_p.E261E|OPRM1_uc003qpu.2_Silent_p.E261E	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	361	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CCAACATTGAGCAACAAAACT	0.448		NaN											0	0	0	0.150653	0	3	109				
FNDC1	84624	broad.mit.edu	37	6	159655154	159655154	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:159655154C>G	uc010kjv.2	+	11	3810	c.3610C>G	c.(3610-3612)CCC>GCC	p.P1204A	FNDC1_uc010kjw.1_Missense_Mutation_p.P1089A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1204						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAAAGTGGCCCTCTTCCTC	0.632		NaN											0	0	0	0.038147	0	5	15				
FNDC1	84624	broad.mit.edu	37	6	159655190	159655190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:159655190G>A	uc010kjv.2	+	11	3846	c.3646G>A	c.(3646-3648)GAT>AAT	p.D1216N	FNDC1_uc010kjw.1_Missense_Mutation_p.D1101N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1216						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGACGCCGATGGGAGCCT	0.637		NaN											0	0	0	0.02938	0	6	7				
IGF2R	3482	broad.mit.edu	37	6	160517637	160517637	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:160517637C>T	uc003qta.2	+	45	6970	c.6822C>T	c.(6820-6822)ACC>ACT	p.T2274T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2274	15.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGGTACACCTCAGCCGTGT	0.522		NaN											0	0	0	0.132662	0	12	74				
AMZ1	155185	broad.mit.edu	37	7	2740362	2740362	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:2740362C>G	uc003smr.1	+	2	638	c.277C>G	c.(277-279)CGG>GGG	p.R93G	AMZ1_uc003sms.1_Missense_Mutation_p.R93G|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	93							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGCCTGGCTCGGAAGCACAT	0.642		NaN											0	0	0	0.183431	0	25	44				
ZP3	7784	broad.mit.edu	37	7	76069569	76069569	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:76069569A>G	uc003ufd.3	+	6	844	c.834A>G	c.(832-834)ATA>ATG	p.I278M	ZP3_uc003ufc.3_Missense_Mutation_p.I227M|ZP3_uc003ufe.2_Missense_Mutation_p.I186M	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	278	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						CCTTGCAGATATACATCACCT	0.502		NaN											0	0	0	0.058154	0	7	1				
TRRAP	8295	broad.mit.edu	37	7	98592453	98592453	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:98592453A>G	uc003upp.2	+	66	10458	c.10249A>G	c.(10249-10251)AAA>GAA	p.K3417E	TRRAP_uc011kis.1_Missense_Mutation_p.K3388E|TRRAP_uc003upr.2_Missense_Mutation_p.K3123E	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3417					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGAAGCTGAAAGGCCAGTT	0.552		NaN											0	0	0	0.139131	0	80	19				
TRIM56	81844	broad.mit.edu	37	7	100730858	100730858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:100730858C>T	uc003uxq.2	+	3	496	c.265C>T	c.(265-267)CGG>TGG	p.R89W	TRIM56_uc003uxr.2_Missense_Mutation_p.R89W	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	89					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGAAGGCCCGGGCCTGTGG	0.706		NaN											0	0	0	0.021553	0	5	61				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:114270000G>A	uc003vhb.2	+	5	911	c.537G>A	c.(535-537)CAG>CAA	p.Q179Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q204Q|FOXP2_uc003vha.2_Silent_p.Q87Q|FOXP2_uc011kmu.1_Silent_p.Q196Q|FOXP2_uc011kmv.1_Silent_p.Q179Q|FOXP2_uc010ljz.1_Silent_p.Q87Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhd.2_Silent_p.Q179Q|FOXP2_uc003vhc.2_Silent_p.Q204Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						agcaacaacagcagcagcagc	0.159		NaN											0	0	0	0.014758	0	5	18				
OR2F1	26211	broad.mit.edu	37	7	143657849	143657849	+	Silent	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:143657849C>G	uc003wds.1	+	1	830	c.786C>G	c.(784-786)CCC>CCG	p.P262P		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					ACATCCAGCCCCACTCCAGTC	0.473		NaN											0	0	0	0.150653	0	4	63				
CSMD1	64478	broad.mit.edu	37	8	2830727	2830727	+	Silent	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:2830727G>T	uc011kwk.1	-	57	9228	c.8838C>A	c.(8836-8838)TCC>TCA	p.S2946S	CSMD1_uc011kwj.1_Silent_p.S2275S|CSMD1_uc010lrg.2_Silent_p.S956S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2946	Extracellular (Potential).|Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATTTCACAGGAGAAGCGGA	0.552		NaN											1	0	1.23904e-05	0.014758	1.32685e-05	5	103				
KIAA1967	57805	broad.mit.edu	37	8	22475219	22475219	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:22475219G>A	uc003xch.2	+	16	2138	c.2001G>A	c.(1999-2001)AAG>AAA	p.K667K	KIAA1967_uc003xci.2_Silent_p.K667K|KIAA1967_uc003xcj.1_Silent_p.K336K	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	667					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGGAGCAAAGCTGGAGGATT	0.532		NaN											0	0	0	0.021553	0	6	91				
ASAP1	50807	broad.mit.edu	37	8	131130435	131130435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:131130435G>A	uc003yta.1	-	19	1880	c.1852C>T	c.(1852-1854)CAT>TAT	p.H618Y	ASAP1_uc003ysz.1_Missense_Mutation_p.H429Y|ASAP1_uc011liw.1_Missense_Mutation_p.H611Y	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	618	ANK 1.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCAACCAAATGGAGAGATGTC	0.393		NaN											0	0	0	0.150653	0	3	81				
KDM4C	23081	broad.mit.edu	37	9	7103807	7103807	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:7103807G>A	uc003zkh.2	+	18	3127	c.2547G>A	c.(2545-2547)GAG>GAA	p.E849E	KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.E849E|KDM4C_uc011lmk.1_Silent_p.E594E|KDM4C_uc011lml.1_Silent_p.E536E	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	849	PHD-type 2.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						TACTGATGGAGCCTGATGACT	0.468		NaN											0	0	0	0.163468	0	28	59				
FAM75C1	441452	broad.mit.edu	37	9	90536086	90536086	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:90536086G>A	uc010mqi.2	+	4	1293	c.1264G>A	c.(1264-1266)GTC>ATC	p.V422I	FAM75C1_uc004apq.3_Missense_Mutation_p.V405I	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						ACCCTCTAGGGTCCAAAAATC	0.478		NaN											0	0	0	0.064281	0	26	151				
IKBKAP	8518	broad.mit.edu	37	9	111665223	111665223	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:111665223C>A	uc004bdm.3	-	16	2271	c.1751_splice	c.e16-1	p.E584_splice	IKBKAP_uc004bdl.2_Splice_Site_p.E235_splice|IKBKAP_uc011lwc.1_Splice_Site_p.E470_splice|IKBKAP_uc010mtq.2_Splice_Site_p.E235_splice	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene						immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						GAAGGTGACTCTGCAAGATTC	0.413		NaN											1	0	1.50039e-11	0.062417	1.70044e-11	20	48				
SEC16A	9919	broad.mit.edu	37	9	139369743	139369743	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:139369743C>T	uc004chx.2	-	3	2634	c.2325G>A	c.(2323-2325)TCG>TCA	p.S775S	SEC16A_uc004chv.3_Silent_p.S402S|SEC16A_uc004chw.2_Silent_p.S775S|SEC16A_uc010nbn.2_Silent_p.S775S|SEC16A_uc010nbo.1_Silent_p.S775S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	597					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGCCGCCGAGCTTGGGT	0.607		NaN											0	0	0	0.047766	0	7	56				
PNPLA4	8228	broad.mit.edu	37	X	7870171	7870171	+	Silent	SNP	G	G	A	rs150755827		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:7870171G>A	uc011mhq.1	-	6	651	c.489C>T	c.(487-489)GAC>GAT	p.D163D	PNPLA4_uc011mhr.1_Silent_p.D163D|PNPLA4_uc011mhs.1_Silent_p.D76D	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	163	Patatin.				lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGAGGCCTCCGTCCACCCACT	0.542		NaN											0	0	0	0.116897	0	26	4				
ZFX	7543	broad.mit.edu	37	X	24225885	24225885	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:24225885C>A	uc004dbf.2	+	6	1111	c.853C>A	c.(853-855)CTT>ATT	p.L285I	ZFX_uc004dbd.1_Missense_Mutation_p.L285I|ZFX_uc010nfx.1_Missense_Mutation_p.L56I|ZFX_uc004dbe.2_Missense_Mutation_p.L285I|ZFX_uc011mjv.1_Missense_Mutation_p.L324I|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_5'UTR	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						AGTTGAACTGCTTGATCAGAA	0.403		NaN											1	0	7.03913e-09	0.09319	7.7831e-09	11	122				
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37027200A>C	uc004ddl.1	+	1	731	c.717A>C	c.(715-717)CCA>CCC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	239										ovary(3)	3						TGGAGCCTCCAGAGACTGGAG	0.637		NaN											0	0	0	0.115264	0	3	53				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37028425A>G	uc004ddl.1	+	1	1956	c.1942A>G	c.(1942-1944)AAT>GAT	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	648										ovary(3)	3						GGAGCCTCCCAATACTGGAGT	0.642		NaN											0	0	0	0.014758	0	4	78				
ZCCHC5	203430	broad.mit.edu	37	X	77912689	77912689	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:77912689T>A	uc004edc.1	-	2	1525	c.1229A>T	c.(1228-1230)GAT>GTT	p.D410V		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	410							nucleic acid binding|zinc ion binding			ovary(1)	1						CTCGGGTCCATCTCCCTCTGC	0.537		NaN											0	0	0	0.139131	0	53	9				
NXF3	56000	broad.mit.edu	37	X	102334726	102334726	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:102334726G>A	uc004eju.2	-	13	1196	c.1125C>T	c.(1123-1125)TCC>TCT	p.S375S	NXF3_uc010noi.1_Silent_p.S225S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	375	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GAATGCTCAGGGAGAAGCAGG	0.547		NaN											0	0	0	0.115264	0	3	70				
TEX13A	56157	broad.mit.edu	37	X	104463696	104463696	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:104463696C>A	uc004ema.2	-	5	1292	c.1180G>T	c.(1180-1182)GAT>TAT	p.D394Y	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	394	RanBP2-type.					intracellular	zinc ion binding			ovary(2)	2						AAGCAAGTATCCCTCCGTGAA	0.488		NaN											1	0	3.6533e-62	0.139131	4.32043e-62	121	19				
ATAD3B	83858	broad.mit.edu	37	1	1417558	1417558	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:1417558G>A	uc001afv.2	+	6	656	c.555G>A	c.(553-555)GAG>GAA	p.E185E	ATAD3B_uc001afw.2_Silent_p.E139E|ATAD3B_uc001afx.2_Silent_p.E139E	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	185	Potential.						ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAAGAATGAGATGCTGCGAG	0.672		NaN											0	0	0	0.009096	0	4	23				
PLCH2	9651	broad.mit.edu	37	1	2420790	2420790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:2420790G>T	uc001aji.1	+	9	1654	c.1380G>T	c.(1378-1380)CAG>CAT	p.Q460H	PLCH2_uc010nyz.1_Missense_Mutation_p.Q248H|PLCH2_uc009vle.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajj.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajk.1_Missense_Mutation_p.Q248H	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	460	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTCTCCACAGATGCTCAAGG	0.582		NaN											1	0	2.80697e-09	0.010729	2.96018e-09	11	65				
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:3331170G>C	uc001akf.2	+	10	2730	c.2650G>C	c.(2650-2652)GAG>CAG	p.E884Q	PRDM16_uc001akc.2_Missense_Mutation_p.E883Q|PRDM16_uc001akd.2_Missense_Mutation_p.E883Q|PRDM16_uc001ake.2_Missense_Mutation_p.E884Q|PRDM16_uc009vlh.2_Missense_Mutation_p.E584Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	884	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667		NaN	T	EVI1	MDS|AML								0	0	0	0.014758	0	4	27				
PIK3CD	5293	broad.mit.edu	37	1	9775796	9775796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:9775796C>G	uc001aqb.3	+	4	547	c.339C>G	c.(337-339)ATC>ATG	p.I113M	PIK3CD_uc001aqa.2_Missense_Mutation_p.I113M|PIK3CD_uc010oaf.1_Missense_Mutation_p.I113M|PIK3CD_uc001aqe.3_Missense_Mutation_p.I113M	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	113					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGCTCATCAACTCACAGA	0.677		NaN											0	0	0	0.014323	0	17	54				
C1orf127	148345	broad.mit.edu	37	1	11008902	11008902	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:11008902C>T	uc010oao.1	-	8	849	c.844_splice	c.e8-1	p.K282_splice	C1orf127_uc001arr.1_Splice_Site_p.K264_splice|C1orf127_uc001ars.1_Splice_Site_p.K256_splice	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345											ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAAGCCCCTTCTTCACCAAGA	0.537		NaN											0	0	0	0.003163	0	14	34				
PRDM2	7799	broad.mit.edu	37	1	14104976	14104976	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:14104976A>T	uc001avi.2	+	8	1542	c.686A>T	c.(685-687)GAG>GTG	p.E229V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E229V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E28V|PRDM2_uc001avk.2_Missense_Mutation_p.E28V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	229						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTCCAGGAGGTGGCCAGT	0.582		NaN											0	0	0	0.001855	0	13	100				
PADI3	51702	broad.mit.edu	37	1	17586130	17586130	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17586130C>T	uc001bai.2	+	2	190	c.150C>T	c.(148-150)ATC>ATT	p.I50I		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	50					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCGTGGACATCTACATCTCTC	0.592		NaN											0	0	0	0.010504	0	17	72				
PADI3	51702	broad.mit.edu	37	1	17592186	17592186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17592186G>A	uc001bai.2	+	4	419	c.379G>A	c.(379-381)GGA>AGA	p.G127R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAACTGTGAGGGAAGGCAGGA	0.547		NaN											0	0	0	0.00245	0	11	120				
KIF17	57576	broad.mit.edu	37	1	21014070	21014070	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:21014070C>G	uc001bdr.3	-	8	1867	c.1749G>C	c.(1747-1749)CAG>CAC	p.Q583H	KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.Q583H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	583					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGCGGCCTCCTGCCCGAGGC	0.652		NaN											0	0	0	0.004482	0	6	19				
EPHB2	2048	broad.mit.edu	37	1	23107946	23107946	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:23107946G>A	uc009vqj.1	+	2	239	c.94G>A	c.(94-96)GAG>AAG	p.E32K	EPHB2_uc001bge.2_Missense_Mutation_p.E32K|EPHB2_uc001bgf.2_Missense_Mutation_p.E32K|EPHB2_uc010odu.1_Missense_Mutation_p.E32K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	32	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGCGACTGCTGAGCTGGGCTG	0.602		NaN							Hereditary_Prostate_Cancer				0	0	0	0.008361	0	24	44				
RPL11	6135	broad.mit.edu	37	1	24019138	24019138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24019138C>T	uc001bhk.2	+	2	66	c.46C>T	c.(46-48)CGC>TGC	p.R16C	RPL11_uc001bhl.2_Missense_Mutation_p.R15C|RPL11_uc001bhm.2_Missense_Mutation_p.R5C|RPL11_uc001bhn.1_Missense_Mutation_p.R5C	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11	16					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCGGGAACTTCGCATCCGCAA	0.547		NaN											0	0	0	0.01441	0	52	125				
GRHL3	57822	broad.mit.edu	37	1	24673086	24673086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24673086G>C	uc001biy.2	+	13	1559	c.1513G>C	c.(1513-1515)GAG>CAG	p.E505Q	GRHL3_uc001bix.2_Missense_Mutation_p.E500Q|GRHL3_uc001biz.2_Missense_Mutation_p.E407Q	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	500					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAGGAGTTTGAGCCTCTGCC	0.622		NaN											0	0	0	0.013537	0	11	35				
ARID1A	8289	broad.mit.edu	37	1	27094291	27094291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27094291C>T	uc001bmv.1	+	11	3372	c.2999C>T	c.(2998-3000)TCT>TTT	p.S1000F	ARID1A_uc001bmt.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmw.1_Missense_Mutation_p.S617F	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1000	Poly-Ser.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAATCCAGTTCTTCTACTACA	0.473		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.010729	0	11	26		Valid		
ARID1A	8289	broad.mit.edu	37	1	27100195	27100195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27100195C>T	uc001bmv.1	+	16	4364	c.3991C>T	c.(3991-3993)CAG>TAG	p.Q1331*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1330*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1331*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q948*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q177*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1331	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcagcagcagcagca	0.502		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.005524	0	38	87		Valid		
FAM46B	115572	broad.mit.edu	37	1	27332971	27332971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27332971C>T	uc010ofj.1	-	2	914	c.742G>A	c.(742-744)GAA>AAA	p.E248K		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	248										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TACAGGCTTTCGCCTGTGACC	0.622		NaN											0	0	0	0.008291	0	9	19				
EPB41	2035	broad.mit.edu	37	1	29319848	29319848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319848C>G	uc001brm.1	+	2	482	c.475C>G	c.(475-477)CAG>GAG	p.Q159E	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q159E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q159E|EPB41_uc001brk.2_Missense_Mutation_p.Q159E|EPB41_uc001brl.1_Missense_Mutation_p.Q159E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	159					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTAGCCTGCTCAGGAAGAACT	0.358		NaN											0	0	0	0.01441	0	53	133				
EPB41	2035	broad.mit.edu	37	1	29319941	29319941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319941C>G	uc001brm.1	+	2	575	c.568C>G	c.(568-570)CAA>GAA	p.Q190E	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q190E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q190E|EPB41_uc001brk.2_Missense_Mutation_p.Q190E|EPB41_uc001brl.1_Missense_Mutation_p.Q190E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	190					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGAAAGCCCTCAATCAAAAGC	0.388		NaN											0	0	0	0.00632	0	26	62				
S100PBP	64766	broad.mit.edu	37	1	33291827	33291827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33291827G>A	uc001bvz.2	+	3	404	c.127G>A	c.(127-129)GAG>AAG	p.E43K	S100PBP_uc001bwa.1_Missense_Mutation_p.E43K|S100PBP_uc001bwb.1_Missense_Mutation_p.E43K|S100PBP_uc001bwc.2_Missense_Mutation_p.E43K|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	43						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGAGCTGTCAGAGGGAGAAGA	0.468		NaN											0	0	0	0.004878	0	35	136				
S100PBP	64766	broad.mit.edu	37	1	33292181	33292181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292181G>C	uc001bvz.2	+	3	758	c.481G>C	c.(481-483)GAT>CAT	p.D161H	S100PBP_uc001bwa.1_Missense_Mutation_p.D161H|S100PBP_uc001bwb.1_Missense_Mutation_p.D161H|S100PBP_uc001bwc.2_Missense_Mutation_p.D161H|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	161						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTCTGCTTGATAAGGACGA	0.383		NaN											0	0	0	0.007413	0	11	51				
S100PBP	64766	broad.mit.edu	37	1	33292214	33292214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292214G>A	uc001bvz.2	+	3	791	c.514G>A	c.(514-516)GAA>AAA	p.E172K	S100PBP_uc001bwa.1_Missense_Mutation_p.E172K|S100PBP_uc001bwb.1_Missense_Mutation_p.E172K|S100PBP_uc001bwc.2_Missense_Mutation_p.E172K|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	172						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAAGATACTGAAAAACTCTC	0.393		NaN											0	0	0	0.010504	0	12	46				
S100PBP	64766	broad.mit.edu	37	1	33292240	33292240	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292240G>A	uc001bvz.2	+	3	817	c.540G>A	c.(538-540)GAG>GAA	p.E180E	S100PBP_uc001bwa.1_Silent_p.E180E|S100PBP_uc001bwb.1_Silent_p.E180E|S100PBP_uc001bwc.2_Silent_p.E180E|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	180						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGGAGAAGAGATGAGAGAAG	0.448		NaN											0	0	0	0.014323	0	15	47				
GJB3	2707	broad.mit.edu	37	1	35251005	35251005	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:35251005C>G	uc001bxx.2	+	2	1257	c.642C>G	c.(640-642)GTC>GTG	p.V214V	GJB3_uc001bxy.2_Silent_p.V214V|GJB3_uc001bxz.3_Silent_p.V214V|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	214	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCACAGGGTCCTGCGAGGCC	0.622		NaN											0	0	0	0.00245	0	13	33				
GRIK3	2899	broad.mit.edu	37	1	37319267	37319267	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:37319267C>T	uc001caz.2	-	8	1296	c.1161G>A	c.(1159-1161)CGG>CGA	p.R387R	GRIK3_uc001cba.1_Silent_p.R387R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	387	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAAAATCCGTCCGCAAGCCAC	0.547		NaN											0	0	0	0.016522	0	24	67				
SLC2A1	6513	broad.mit.edu	37	1	43396370	43396370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:43396370G>A	uc001cik.2	-	4	968	c.443C>T	c.(442-444)TCA>TTA	p.S148L		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	148	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCTGTGGGTGACACTTCACC	0.622		NaN											0	0	0	0.001168	0	6	16				
RAB3B	5865	broad.mit.edu	37	1	52442680	52442680	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:52442680G>T	uc001cth.2	-	2	235	c.110C>A	c.(109-111)TCC>TAC	p.S37Y		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	37	GTP.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GAAGAGGAAGGAGGTCTTGCC	0.493		NaN											1	0	1.96895e-08	0.016522	2.06835e-08	22	90				
SCP2	6342	broad.mit.edu	37	1	53416446	53416446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:53416446G>C	uc001cur.1	+	4	340	c.219G>C	c.(217-219)CAG>CAC	p.Q73H	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_5'UTR|SCP2_uc010onp.1_Missense_Mutation_p.Q49H|SCP2_uc009vzi.1_Intron|SCP2_uc001cuq.1_Intron	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	73					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						CCTGTGGGCAGAGGGCTATCT	0.378		NaN											0	0	0	0.008361	0	28	66				
SSBP3	23648	broad.mit.edu	37	1	54692805	54692805	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:54692805C>T	uc001cxe.2	-	18	1464	c.1166G>A	c.(1165-1167)TGA>TAA	p.*389*	SSBP3_uc001cxf.2_Silent_p.*369*|SSBP3_uc001cxg.2_Silent_p.*362*|SSBP3_uc001cxd.2_Silent_p.*78*	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						AAGGGGGGATCACACACTCAT	0.567		NaN											0	0	0	0.01441	0	52	193				
KANK4	163782	broad.mit.edu	37	1	62728783	62728783	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:62728783C>T	uc001dah.3	-	7	2897	c.2520G>A	c.(2518-2520)GTG>GTA	p.V840V	KANK4_uc001dai.3_Silent_p.V212V|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.V196V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	840	ANK 1.									ovary(3)|skin(2)|lung(1)	6						GCAGCAGCTTCACGATGGAGA	0.473		NaN											0	0	0	0.008291	0	5	24				
GBP1	2633	broad.mit.edu	37	1	89520378	89520378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:89520378G>A	uc001dmx.2	-	10	1872	c.1652C>T	c.(1651-1653)GCT>GTT	p.A551V		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	551					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AAGTTTAAGAGCGAGGGTCCT	0.448		NaN											0	0	0	0.00623	0	39	100				
ZNF644	84146	broad.mit.edu	37	1	91405439	91405439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:91405439C>T	uc001dnw.2	-	3	1614	c.1472G>A	c.(1471-1473)GGA>GAA	p.G491E	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G491E	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCACTTCTTCCTTCATCCTG	0.388		NaN											0	0	0	0.010818	0	29	87				
ABCD3	5825	broad.mit.edu	37	1	94953293	94953293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953293C>G	uc001dqn.3	+	12	1113	c.1011C>G	c.(1009-1011)TTC>TTG	p.F337L	ABCD3_uc010oto.1_Missense_Mutation_p.F361L|ABCD3_uc010otp.1_Missense_Mutation_p.F264L|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.F25L	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	337	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GTCGCCCTTTCTTAGATTTGT	0.363		NaN											0	0	0	0.012213	0	18	85				
ABCD3	5825	broad.mit.edu	37	1	94953306	94953306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953306C>T	uc001dqn.3	+	12	1126	c.1024C>T	c.(1024-1026)CAT>TAT	p.H342Y	ABCD3_uc010oto.1_Missense_Mutation_p.H366Y|ABCD3_uc010otp.1_Missense_Mutation_p.H269Y|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.H30Y	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	342	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGATTTGTCTCATCCTCGACA	0.358		NaN											0	0	0	0.007291	0	13	76				
ABCD3	5825	broad.mit.edu	37	1	94953342	94953342	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953342C>G	uc001dqn.3	+	12	1162	c.1060C>G	c.(1060-1062)CTA>GTA	p.L354V	ABCD3_uc010oto.1_Missense_Mutation_p.L378V|ABCD3_uc010otp.1_Missense_Mutation_p.L281V|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.L42V	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	354	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCGGAACTTCTAGAGGTAAA	0.333		NaN											0	0	0	0.008871	0	5	47				
FNDC7	163479	broad.mit.edu	37	1	109265152	109265152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:109265152C>T	uc001dvx.2	+	5	794	c.794C>T	c.(793-795)TCA>TTA	p.S265L	FNDC7_uc010ova.1_Missense_Mutation_p.S32L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	266	Fibronectin type-III 3.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TACTTGATTTCAGTTTTAGCA	0.453		NaN											0	0	0	0.00245	0	14	44				
DRAM2	128338	broad.mit.edu	37	1	111674048	111674048	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:111674048G>A	uc001ead.3	-	3	386	c.129C>T	c.(127-129)ATC>ATT	p.I43I	DRAM2_uc001eae.3_Silent_p.I43I|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	43					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						TCACTTACCTGATATAAGGTA	0.338		NaN											0	0	0	0.007413	0	16	69				
PRPF3	9129	broad.mit.edu	37	1	150307520	150307520	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:150307520G>C	uc001eum.3	+	7	1005	c.843G>C	c.(841-843)CTG>CTC	p.L281L	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L240L|PRPF3_uc010pcb.1_Silent_p.L232L|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	281					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGCCTACTCTGAAAGCCAATA	0.473		NaN											0	0	0	0.013537	0	9	28				
TCHH	7062	broad.mit.edu	37	1	152080083	152080083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:152080083C>G	uc001ezp.2	-	2	5610	c.5610G>C	c.(5608-5610)CAG>CAC	p.Q1870H	TCHH_uc009wne.1_Missense_Mutation_p.Q1870H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1870	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGACGTTTCTGCTCCTCTT	0.582		NaN											0	0	0	0.003755	0	34	75				
FCRL2	79368	broad.mit.edu	37	1	157745580	157745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:157745580C>T	uc001fre.2	-	2	96	c.37G>A	c.(37-39)GTC>ATC	p.V13I	FCRL2_uc010phz.1_Missense_Mutation_p.V13I|FCRL2_uc009wsp.2_Missense_Mutation_p.V13I|FCRL2_uc010pia.1_Missense_Mutation_p.V13I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	13					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCAGTGACTGCATCTGTG	0.428		NaN											0	0	0	0.007413	0	12	40				
VSIG8	391123	broad.mit.edu	37	1	159827692	159827692	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:159827692C>A	uc001fuh.2	-	4	631	c.495G>T	c.(493-495)CTG>CTT	p.L165L	C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	165	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)					CATAGCACTTCAGCACCACAT	0.592		NaN											1	0	0.00010058	0.013537	0.000104042	11	38				
PVRL4	81607	broad.mit.edu	37	1	161044087	161044087	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:161044087G>C	uc001fxo.2	-	6	1376	c.1077C>G	c.(1075-1077)CTC>CTG	p.L359L	PVRL4_uc010pjy.1_Silent_p.L38L|PVRL4_uc010pjz.1_Silent_p.L93L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	359	Helical; (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGAACAAGAGTGCGGCGA	0.602		NaN											0	0	0	0.01441	0	40	77				
GPA33	10223	broad.mit.edu	37	1	167059489	167059489	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:167059489G>C	uc001gea.1	-	1	380	c.36C>G	c.(34-36)CTC>CTG	p.L12L		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	12						integral to plasma membrane	receptor activity				0						CACCTGCACAGAGTGTCCACA	0.582		NaN											0	0	0	0.001855	0	11	33				
FMO3	2328	broad.mit.edu	37	1	171076861	171076861	+	Missense_Mutation	SNP	G	G	A	rs113006768		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:171076861G>A	uc001ghi.2	+	4	478	c.367G>A	c.(367-369)GGC>AGC	p.G123S	FMO3_uc001ghh.2_Missense_Mutation_p.G123S|FMO3_uc010pmb.1_Missense_Mutation_p.G103S|FMO3_uc010pmc.1_Missense_Mutation_p.G60S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCAACTACTGGCCAGTGGGA	0.403		NaN											0	0	0	0.009535	0	25	64				
RNASEL	6041	broad.mit.edu	37	1	182555827	182555827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:182555827C>G	uc001gpj.1	-	1	282	c.115G>C	c.(115-117)GAC>CAC	p.D39H	RNASEL_uc009wxz.1_Missense_Mutation_p.D39H|RNASEL_uc001gpk.2_Missense_Mutation_p.D39H|RNASEL_uc009wya.1_Missense_Mutation_p.D39H	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	39	ANK 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TGGACCAGGTCAACATCTTCG	0.512		NaN							Hereditary_Prostate_Cancer				0	0	0	0.012213	0	30	119				
EDEM3	80267	broad.mit.edu	37	1	184680990	184680990	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:184680990C>T	uc010pok.1	-	15	1819	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.D520N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	520					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						TTACTGTCATCCAGTTCTGTA	0.299		NaN											0	0	0	0.008291	0	9	33				
ATP2B4	493	broad.mit.edu	37	1	203696675	203696675	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:203696675G>A	uc001gzw.2	+	20	4169	c.3285G>A	c.(3283-3285)CGG>CGA	p.R1095R	ATP2B4_uc001gzv.2_Silent_p.R1095R|ATP2B4_uc009xaq.2_Silent_p.R1095R|ATP2B4_uc001gzx.2_Silent_p.R126R|ATP2B4_uc009xar.2_Silent_p.R90R|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1095	Cytoplasmic (Potential).|Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGGTTCCGGGGCCTGAACC	0.562		NaN											0	0	0	0.01441	0	39	69				
CDK18	5129	broad.mit.edu	37	1	205492648	205492648	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:205492648G>A	uc001hcr.2	+	3	387	c.168G>A	c.(166-168)CAG>CAA	p.Q56Q	CDK18_uc009xbk.1_RNA|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_Missense_Mutation_p.G77R|CDK18_uc001hcp.2_Silent_p.Q56Q|CDK18_uc001hcq.2_Silent_p.Q56Q|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	54							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.Q56*(1)		stomach(2)	2						ACCCCCCGCAGGAGTGCAGCA	0.667		NaN											0	0	0	0.009096	0	3	19				
YOD1	55432	broad.mit.edu	37	1	207222498	207222498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:207222498C>G	uc001hfe.1	-	2	961	c.914G>C	c.(913-915)AGA>ACA	p.R305T	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.R261T	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	305					cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					TCTCCTTCTTCTAGCTTCATC	0.443		NaN											0	0	0	0.01441	0	56	135				
INTS7	25896	broad.mit.edu	37	1	212190291	212190291	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:212190291G>A	uc001hiw.1	-	4	551	c.446C>T	c.(445-447)TCA>TTA	p.S149L	INTS7_uc009xdb.1_Missense_Mutation_p.S149L|INTS7_uc001hix.1_Missense_Mutation_p.S25L|INTS7_uc001hiy.1_Missense_Mutation_p.S149L|INTS7_uc010pta.1_Missense_Mutation_p.S100L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	149					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTATCATGTGAATCTAAACT	0.388		NaN											0	0	0	0.013726	0	31	71				
HHIPL2	79802	broad.mit.edu	37	1	222715388	222715388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222715388C>G	uc001hnh.1	-	3	1142	c.1084G>C	c.(1084-1086)GAT>CAT	p.D362H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	362					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CCAAAGGGATCTCCAGCCTGT	0.532		NaN											0	0	0	0.008871	0	19	57				
HHIPL2	79802	broad.mit.edu	37	1	222716949	222716949	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222716949C>G	uc001hnh.1	-	2	962	c.904G>C	c.(904-906)GAA>CAA	p.E302Q		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	302					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CGGATCTTTTCTACCTTCTTC	0.468		NaN											0	0	0	0.01441	0	84	231				
HHIPL2	79802	broad.mit.edu	37	1	222717298	222717298	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222717298C>T	uc001hnh.1	-	2	613	c.555G>A	c.(553-555)CTG>CTA	p.L185L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	185					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		AGTCGTTCCTCAGGACATTAG	0.612		NaN											0	0	0	0.016522	0	22	50				
FBXO28	23219	broad.mit.edu	37	1	224321837	224321837	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:224321837G>C	uc001hoh.2	+	3	480	c.439G>C	c.(439-441)GAA>CAA	p.E147Q	FBXO28_uc009xef.2_Missense_Mutation_p.E147Q|FBXO28_uc010pvc.1_Intron	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	147										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGCTGCTGTTGAAACAAGGCT	0.358		NaN											0	0	0	0.004482	0	9	25				
PARP1	142	broad.mit.edu	37	1	226595555	226595555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:226595555C>G	uc001hqd.3	-	1	247	c.76G>C	c.(76-78)GAG>CAG	p.E26Q		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	26	PARP-type 1.|				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGATGCTCTCGCTGCATTTC	0.507		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	0.004672	0	3	17				
C1orf124	83932	broad.mit.edu	37	1	231474322	231474322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:231474322G>C	uc001hur.2	+	1	641	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.E65Q|C1orf124_uc001hut.2_Missense_Mutation_p.E65Q	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	65					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGAGGCCGTCGAGGTGAAGTG	0.617		NaN											0	0	0	0.004289	0	32	133				
LYST	1130	broad.mit.edu	37	1	235894422	235894422	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:235894422C>T	uc001hxj.2	-	35	9032	c.8857G>A	c.(8857-8859)GAA>AAA	p.E2953K	LYST_uc001hxi.2_Missense_Mutation_p.E177K	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2953					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTGGCCCTTCTGTTGGATCC	0.408		NaN							Chediak-Higashi_syndrome				0	0	0	0.012319	0	21	35				
OR2T11	127077	broad.mit.edu	37	1	248790334	248790334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:248790334G>C	uc001ier.1	-	1	96	c.96C>G	c.(94-96)TTC>TTG	p.F32L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCCCCCAAGAAAACAGCAA	0.498		NaN											0	0	0	0.006999	0	41	81				
OPTN	10133	broad.mit.edu	37	10	13164440	13164440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:13164440G>C	uc001ilu.1	+	9	1273	c.835G>C	c.(835-837)GAG>CAG	p.E279Q	OPTN_uc001ilv.1_Missense_Mutation_p.E279Q|OPTN_uc001ilw.1_Missense_Mutation_p.E279Q|OPTN_uc001ilx.1_Missense_Mutation_p.E279Q|OPTN_uc001ily.1_Missense_Mutation_p.E273Q|OPTN_uc010qbr.1_Missense_Mutation_p.E222Q|OPTN_uc001ilz.1_Missense_Mutation_p.E273Q	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	279	Potential.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						AACCCAGACAGAGGGGAGCAC	0.433		NaN											0	0	0	0.004007	0	14	63				
CDNF	441549	broad.mit.edu	37	10	14870191	14870191	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:14870191C>G	uc001inb.1	-	2	234	c.196G>C	c.(196-198)GAA>CAA	p.E66Q	CDNF_uc010qbv.1_Missense_Mutation_p.E66Q|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	66						extracellular region	growth factor activity				0						CTGATCAATTCTTTCTCTATA	0.363		NaN											0	0	0	0.010504	0	20	83				
ACBD7	414149	broad.mit.edu	37	10	15120550	15120550	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:15120550C>G	uc001inv.2	-	4	294	c.246G>C	c.(244-246)CTG>CTC	p.L82L	ACBD7_uc010qby.1_Intron	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	acyl-Coenzyme A binding domain containing 7	82	ACB.						fatty-acyl-CoA binding				0						ATTTTTCTATCAGCTCCTTTG	0.398		NaN											0	0	0	0.005443	0	21	93				
LYZL2	119180	broad.mit.edu	37	10	30901786	30901786	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:30901786C>G	uc001ivk.2	-	4	493	c.480G>C	c.(478-480)AAG>AAC	p.K160N		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	114					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TAACAATTTTCTTGGCACAGA	0.443		NaN											0	0	0	0.00499	0	8	91				
ANK3	288	broad.mit.edu	37	10	61834597	61834597	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:61834597C>G	uc001jky.2	-	37	6234	c.6042G>C	c.(6040-6042)GAG>GAC	p.E2014D	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2014					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTTGCACTCTCTCTGGCAGAG	0.438		NaN											0	0	0	0.01441	0	53	48				
COL13A1	1305	broad.mit.edu	37	10	71716780	71716780	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71716780C>G	uc001jpr.1	+	38	2669	c.2133C>G	c.(2131-2133)GTC>GTG	p.V711V	COL13A1_uc001jqj.1_Silent_p.V684V|COL13A1_uc001jps.1_Silent_p.V682V|COL13A1_uc001jpt.1_Silent_p.V670V|COL13A1_uc001jpu.1_Silent_p.V680V|COL13A1_uc001jpv.1_Silent_p.V685V|COL13A1_uc001jpx.1_Silent_p.V662V|COL13A1_uc001jpw.1_Silent_p.V658V|COL13A1_uc001jpy.1_Silent_p.V649V|COL13A1_uc001jpz.1_Silent_p.V654V|COL13A1_uc001jqa.1_Silent_p.V651V|COL13A1_uc001jqc.1_Silent_p.V696V|COL13A1_uc001jqb.1_Silent_p.V604V|COL13A1_uc001jql.2_Silent_p.V711V|COL13A1_uc001jqd.1_Silent_p.V699V|COL13A1_uc001jqe.1_Silent_p.V694V|COL13A1_uc001jqf.1_Silent_p.V692V|COL13A1_uc001jqg.1_Silent_p.V689V|COL13A1_uc001jqh.1_Silent_p.V699V|COL13A1_uc001jqi.1_Silent_p.V697V|COL13A1_uc010qjf.1_Silent_p.V486V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	711	Extracellular (Potential).|Nonhelical region 4 (NC4).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCTTACCAGTCCAAGGCTGCT	0.552		NaN											0	0	0	0.007291	0	22	38				
POLR3A	11128	broad.mit.edu	37	10	79750904	79750904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:79750904C>T	uc001jzn.2	-	21	2903	c.2809G>A	c.(2809-2811)GAG>AAG	p.E937K		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	937					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCAGGCTCACTGGGACAC	0.502		NaN											0	0	0	0.003755	0	30	22				
SFTPA1	653509	broad.mit.edu	37	10	81373716	81373716	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:81373716C>T	uc001kap.2	+	6	715	c.594C>T	c.(592-594)TTC>TTT	p.F198F	SFTPA1_uc001kaq.2_Silent_p.F198F|SFTPA1_uc009xry.2_Silent_p.F213F|SFTPA1_uc001kar.2_Silent_p.F198F|SFTPA1_uc010qlt.1_Silent_p.F139F|SFTPA1_uc009xrz.2_Silent_p.F128F|SFTPA1_uc009xsa.2_Silent_p.F198F|SFTPA1_uc009xsf.2_RNA	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	surfactant protein A1 isoform 1	198	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTGGAGACTTCCGCTACTCAG	0.547		NaN											0	0	0	0.01441	0	82	94				
FAM35A	54537	broad.mit.edu	37	10	88939998	88939998	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:88939998G>A	uc001kei.3	+	7	2244	c.2130G>A	c.(2128-2130)GAG>GAA	p.E710E	FAM35A_uc001kej.3_Silent_p.E156E	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	710										ovary(2)|skin(2)	4						AAACAGATGAGAACAGGATCT	0.348		NaN											0	0	0	0.00632	0	12	17				
TLL2	7093	broad.mit.edu	37	10	98155023	98155024	+	Nonsense_Mutation	DNP	CG	CG	TT			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155023_98155024CG>TT	uc001kml.1	-	13	1872_1873	c.1646_1647CG>AA	c.(1645-1647)TCG>TAA	p.S549*	TLL2_uc009xvf.1_Nonsense_Mutation_p.S527*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	549	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTTGGAGCTCGATTTCACATC	0.49		NaN											0	0	0	0.004672	0	18	40				
TLL2	7093	broad.mit.edu	37	10	98155044	98155044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155044C>G	uc001kml.1	-	13	1852	c.1626G>C	c.(1624-1626)GAG>GAC	p.E542D	TLL2_uc009xvf.1_Missense_Mutation_p.E520D	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	542	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCCGGCTTCTCATAGCCAC	0.502		NaN											0	0	0	0.013114	0	11	32				
SEC31B	25956	broad.mit.edu	37	10	102267742	102267742	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:102267742G>C	uc001krc.1	-	6	664	c.562C>G	c.(562-564)CAC>GAC	p.H188D	SEC31B_uc010qpo.1_Missense_Mutation_p.H187D|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.H191D|SEC31B_uc009xwn.1_Missense_Mutation_p.H188D|SEC31B_uc009xwo.1_Missense_Mutation_p.H188D|SEC31B_uc010qpq.1_Missense_Mutation_p.H31D|SEC31B_uc010qpr.1_RNA	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	188	WD 3.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACTGGGGTGAGCAGAAGAC	0.512		NaN											0	0	0	0.01441	0	80	88				
MMP21	118856	broad.mit.edu	37	10	127455472	127455472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:127455472G>C	uc001liu.2	-	7	1469	c.1469C>G	c.(1468-1470)ACT>AGT	p.T490S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	490	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAAACTTCAGTAATCCTCTT	0.333		NaN											0	0	0	0.001984	0	7	31				
OR52B4	143496	broad.mit.edu	37	11	4388659	4388659	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:4388659C>T	uc010qye.1	-	1	867	c.867G>A	c.(865-867)CTG>CTA	p.L289L		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATGGGATTCAGCATAGGTG	0.418		NaN											0	0	0	0.001855	0	12	38				
FAM160A2	84067	broad.mit.edu	37	11	6239209	6239209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:6239209C>T	uc001mcl.3	-	9	1966	c.1607G>A	c.(1606-1608)CGA>CAA	p.R536Q	FAM160A2_uc001mck.3_Missense_Mutation_p.R550Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R536Q	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	536					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GGTAGGCCGTCGGCCAGGGCT	0.657		NaN											0	0	0	0.004482	0	9	34				
USP47	55031	broad.mit.edu	37	11	11913630	11913630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:11913630C>G	uc001mjq.1	+	5	1296	c.533C>G	c.(532-534)TCT>TGT	p.S178C	USP47_uc001mjr.2_Missense_Mutation_p.S90C|USP47_uc001mjs.2_Missense_Mutation_p.S158C	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	178					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TCCTACTCATCTATTTTGAAT	0.289		NaN											0	0	0	0.006122	0	17	148				
FAR1	84188	broad.mit.edu	37	11	13732282	13732282	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732282G>A	uc001mld.2	+	5	743	c.588G>A	c.(586-588)TTG>TTA	p.L196L	FAR1_uc009ygp.2_Silent_p.L196L	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	196					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						CGCCAAAATTGATAGGAGACA	0.333		NaN											0	0	0	0.010504	0	18	176				
FAR1	84188	broad.mit.edu	37	11	13732293	13732293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732293G>A	uc001mld.2	+	5	754	c.599G>A	c.(598-600)AGA>AAA	p.R200K	FAR1_uc009ygp.2_Missense_Mutation_p.R200K	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	200					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						ATAGGAGACAGACCTAATACA	0.348		NaN											0	0	0	0.007413	0	17	173				
FAR1	84188	broad.mit.edu	37	11	13733312	13733312	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13733312G>C	uc001mld.2	+	6	880	c.725G>C	c.(724-726)GGA>GCA	p.G242A	FAR1_uc009ygp.2_Missense_Mutation_p.G242A	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	242					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TGGTATTAGGGATGGATTGAT	0.294		NaN											0	0	0	0.004007	0	13	91				
CAPRIN1	4076	broad.mit.edu	37	11	34113462	34113462	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:34113462A>G	uc001mvh.1	+	15	1753	c.1564A>G	c.(1564-1566)ATG>GTG	p.M522V	CAPRIN1_uc001mvg.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvi.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvj.1_Missense_Mutation_p.M441V	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	522					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTGTTCAATATGAATGCCCC	0.373		NaN											0	0	0	0.007413	0	15	52				
PRDM11	56981	broad.mit.edu	37	11	45245797	45245797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:45245797G>C	uc001myo.2	+	8	1123	c.874G>C	c.(874-876)GAG>CAG	p.E292Q		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	292										upper_aerodigestive_tract(1)	1						GGAGAAGTCTGAGCAGGTTCT	0.502		NaN											0	0	0	0.012213	0	26	138				
KIAA0652	9776	broad.mit.edu	37	11	46679081	46679081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:46679081G>C	uc009yld.2	+	10	1288	c.604G>C	c.(604-606)GAG>CAG	p.E202Q	KIAA0652_uc001nda.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndb.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ncz.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndc.2_Missense_Mutation_p.E202Q|KIAA0652_uc010rgv.1_Missense_Mutation_p.E123Q	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	202					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		CAGGCAATTTGAGAGGACCCC	0.488		NaN											0	0	0	0.014323	0	21	58				
PTPRJ	5795	broad.mit.edu	37	11	48185099	48185099	+	Silent	SNP	C	C	T	rs2229704		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:48185099C>T	uc001ngp.3	+	23	4003	c.3648C>T	c.(3646-3648)ATC>ATT	p.I1216I		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1216	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						ACCTGCTCATCAACTTCCGGT	0.547		NaN											0	0	0	0.008361	0	28	64				
APLNR	187	broad.mit.edu	37	11	57003561	57003561	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:57003561G>A	uc001njo.2	-	1	1367	c.918C>T	c.(916-918)CCC>CCT	p.P306P	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	306	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						CATAGAGGAAGGGGTTGAGGC	0.607		NaN											0	0	0	0.006214	0	8	44				
FAM111B	374393	broad.mit.edu	37	11	58892744	58892744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58892744C>G	uc001nnl.2	+	4	1417	c.1174C>G	c.(1174-1176)CAA>GAA	p.Q392E	FAM111B_uc001nnm.2_Missense_Mutation_p.Q362E|FAM111B_uc010rko.1_Missense_Mutation_p.Q362E	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	392							catalytic activity			ovary(2)	2						AAAGAATTATCAAACGTTGAA	0.388		NaN											0	0	0	0.016522	0	22	66				
FAM111B	374393	broad.mit.edu	37	11	58893519	58893519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58893519C>G	uc001nnl.2	+	4	2192	c.1949C>G	c.(1948-1950)TCA>TGA	p.S650*	FAM111B_uc001nnm.2_Nonsense_Mutation_p.S620*|FAM111B_uc010rko.1_Nonsense_Mutation_p.S620*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	650							catalytic activity			ovary(2)	2						GATGGGTCCTCAGGCTCCCCA	0.398		NaN											0	0	0	0.013537	0	10	50				
OR5A2	219981	broad.mit.edu	37	11	59190322	59190322	+	Silent	SNP	G	G	C	rs142339235		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:59190322G>C	uc010rkt.1	-	1	105	c.105C>G	c.(103-105)CTC>CTG	p.L35L		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCAGGAGGTAGAGCCCCAGAA	0.448		NaN											0	0	0	0.004482	0	9	39				
RARRES3	5920	broad.mit.edu	37	11	63312136	63312136	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:63312136G>A	uc001nxf.3	+	3	230	c.162G>A	c.(160-162)CTG>CTA	p.L54L		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	54					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						TCTCAGTCCTGAGCAACAGTG	0.582		NaN											0	0	0	0.013726	0	32	162				
RELT	84957	broad.mit.edu	37	11	73102216	73102216	+	Silent	SNP	C	C	T	rs146023545	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:73102216C>T	uc001otv.2	+	5	480	c.315C>T	c.(313-315)CGC>CGT	p.R105R	RELT_uc001otw.2_Silent_p.R105R|RELT_uc009yto.1_Silent_p.R23R|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	105	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GGGTTCCCCGCGTTCCATGTC	0.587		NaN											0	0	0	0.01441	0	51	91				
FAT3	120114	broad.mit.edu	37	11	92534006	92534006	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:92534006C>T	uc001pdj.3	+	9	7844	c.7827C>T	c.(7825-7827)GTC>GTT	p.V2609V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2609	Cadherin 24.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCCAGTGTCAGGGCAGATG	0.468		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.001855	0	10	10				
PVRL1	5818	broad.mit.edu	37	11	119545906	119545906	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:119545906G>A	uc001pwv.2	-	5	1138	c.966C>T	c.(964-966)ATC>ATT	p.I322I	PVRL1_uc001pwu.1_Silent_p.I322I|PVRL1_uc001pww.2_Silent_p.I322I	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	322	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGCGTGTACCGATGGGGTTGG	0.602		NaN											0	0	0	0.010729	0	11	28				
TBCEL	219899	broad.mit.edu	37	11	120918374	120918374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:120918374G>A	uc009zay.2	+	3	349	c.271G>A	c.(271-273)GAG>AAG	p.E91K	TBCEL_uc001pxo.2_Missense_Mutation_p.E91K|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	91	LRR 1.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AGACTGGCATGAGGTGAAGTT	0.368		NaN											0	0	0	0.004482	0	8	11				
IGSF9B	22997	broad.mit.edu	37	11	133792552	133792552	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:133792552G>A	uc001qgx.3	-	16	2424	c.2193C>T	c.(2191-2193)ATC>ATT	p.I731I	IGSF9B_uc001qgy.1_Silent_p.I573I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	731	Helical; (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAAGAAGCAGATGGTAGCTA	0.607		NaN											0	0	0	0.009096	0	4	5				
IQSEC3	440073	broad.mit.edu	37	12	176472	176472	+	Translation_Start_Site	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:176472C>G	uc001qht.1	+	1	270	c.-230C>G	c.(-232--228)ATCTG>ATGTG			NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAAGCATCTGGGGACACA	0.697		NaN											0	0	0	0.009096	0	3	31				
KCNA5	3741	broad.mit.edu	37	12	5154121	5154121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:5154121G>C	uc001qni.2	+	1	1037	c.808G>C	c.(808-810)GAG>CAG	p.E270Q		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	270						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CTTCTGCTTGGAGACCCTGCC	0.657		NaN											0	0	0	0.008361	0	29	95				
CLEC1B	51266	broad.mit.edu	37	12	10145870	10145870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:10145870C>G	uc001qwu.2	-	6	762	c.562G>C	c.(562-564)GAT>CAT	p.D188H	CLEC1B_uc009zhd.2_Missense_Mutation_p.D155H	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	188	C-type lectin.|Extracellular (Potential).			D->A: Significant reduction in rhodocytin binding.	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						CCTTTTCCATCTTCCAAAAAC	0.358		NaN											0	0	0	0.010504	0	19	37				
TAS2R31	259290	broad.mit.edu	37	12	11183791	11183791	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:11183791G>C	uc001qzo.1	-	1	216	c.144C>G	c.(142-144)CTC>CTG	p.L48L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	48	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						CCAGAGCAGTGAGAATCTGGT	0.368		NaN											0	0	0	0.007413	0	16	71				
SLCO1B1	10599	broad.mit.edu	37	12	21325679	21325679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:21325679G>C	uc001req.3	+	3	284	c.180G>C	c.(178-180)GAG>GAC	p.E60D		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	60	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGAGATTTGAGATATCCTCTT	0.313		NaN											0	0	0	0.014758	0	4	17				
KIAA0528	9847	broad.mit.edu	37	12	22659717	22659717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:22659717C>T	uc001rfq.2	-	10	1303	c.1075G>A	c.(1075-1077)GGA>AGA	p.G359R	KIAA0528_uc010sir.1_Missense_Mutation_p.G152R|KIAA0528_uc010sis.1_Missense_Mutation_p.G359R|KIAA0528_uc010sit.1_Missense_Mutation_p.G361R|KIAA0528_uc010siu.1_Missense_Mutation_p.G359R|KIAA0528_uc001rfr.2_Missense_Mutation_p.G350R|KIAA0528_uc009ziy.1_Missense_Mutation_p.G361R	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	359							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ACAAGGAATCCAGGAGGAAAT	0.373		NaN											0	0	0	0.006122	0	16	65				
ARNTL2	56938	broad.mit.edu	37	12	27521207	27521207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:27521207G>C	uc001rht.1	+	2	62	c.44G>C	c.(43-45)AGA>ACA	p.R15T	ARNTL2_uc001rhw.2_Missense_Mutation_p.R26T|ARNTL2_uc010sjp.1_Missense_Mutation_p.R26T|ARNTL2_uc001rhu.1_Missense_Mutation_p.R15T|ARNTL2_uc009zji.1_Missense_Mutation_p.R15T|ARNTL2_uc001rhv.1_Missense_Mutation_p.R15T	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	15					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAAGTGTTGAGAGAGGAGAAC	0.413		NaN											0	0	0	0.004007	0	11	46				
DDX11	1663	broad.mit.edu	37	12	31256888	31256888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:31256888G>A	uc001rjt.1	+	27	3085	c.2834G>A	c.(2833-2835)AGA>AAA	p.R945K	DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R945K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.R114K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	945					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCAGGAGGAGAGTGTGGAGT	0.602		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.009096	0	4	6				
LRRK2	120892	broad.mit.edu	37	12	40637439	40637439	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:40637439G>A	uc001rmg.3	+	7	915	c.794G>A	c.(793-795)AGA>AAA	p.R265K		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	265					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGTGAAAGAATTCAAGAA	0.353		NaN											0	0	0	0.004007	0	16	103				
SLC38A2	54407	broad.mit.edu	37	12	46761069	46761069	+	Silent	SNP	C	C	T	rs61761952		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:46761069C>T	uc001rpg.2	-	5	809	c.369G>A	c.(367-369)TTG>TTA	p.L123L	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.L23L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	123	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGGCAGTCTTCAAAAGGAGAT	0.338		NaN											0	0	0	0.00333	0	21	107				
MLL2	8085	broad.mit.edu	37	12	49434740	49434740	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:49434740G>T	uc001rta.3	-	31	6813	c.6813C>A	c.(6811-6813)CCC>CCA	p.P2271P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2271	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCGAGAGCAGGGGCTCGGAAG	0.632		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	3.86212e-05	0.008291	4.00269e-05	7	38				
DAZAP2	9802	broad.mit.edu	37	12	51634657	51634657	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51634657C>T	uc010snd.1	+	3	319	c.135C>T	c.(133-135)CTC>CTT	p.L45L	DAZAP2_uc001ryb.2_Silent_p.L45L|DAZAP2_uc010snc.1_Intron|DAZAP2_uc010sne.1_Intron|DAZAP2_uc010snf.1_Silent_p.L45L	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	45	Pro-rich.						WW domain binding				0						TCTTCTAGCTCTATCGTCCGA	0.473		NaN											0	0	0	0.012319	0	17	71				
GALNT6	11226	broad.mit.edu	37	12	51759227	51759227	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51759227G>A	uc001ryk.2	-	4	1026	c.801C>T	c.(799-801)TTC>TTT	p.F267F	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.F267F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	267	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GGGCATCCAGGAACGTGAGCA	0.687		NaN											0	0	0	0.014758	0	4	51				
TENC1	23371	broad.mit.edu	37	12	53444019	53444019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:53444019G>A	uc001sbp.2	+	1	185	c.50G>A	c.(49-51)AGG>AAG	p.R17K	uc001sbk.1_Intron|TENC1_uc001sbl.2_Intron|TENC1_uc001sbm.2_Intron|TENC1_uc001sbn.2_Intron|TENC1_uc001sbo.1_Missense_Mutation_p.R17K	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	17					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTGGGGAGGAGGGACAGCAGC	0.692		NaN											0	0	0	0.014758	0	4	11				
KIAA0748	9840	broad.mit.edu	37	12	55356465	55356465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55356465G>A	uc001sgn.3	-	9	1327	c.1217C>T	c.(1216-1218)CCA>CTA	p.P406L	KIAA0748_uc001sgl.3_Missense_Mutation_p.P268L|KIAA0748_uc001sgm.3_Missense_Mutation_p.P153L|KIAA0748_uc010spb.1_Missense_Mutation_p.P153L|KIAA0748_uc010spc.1_Missense_Mutation_p.P268L|KIAA0748_uc010spd.1_Missense_Mutation_p.P406L|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	406										ovary(1)|central_nervous_system(1)	2						TATCTGAGCTGGGTCTGTGCT	0.507		NaN											0	0	0	0.00874	0	39	65				
OR6C3	254786	broad.mit.edu	37	12	55725670	55725670	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55725670C>T	uc010spj.1	+	1	186	c.186C>T	c.(184-186)AAC>AAT	p.N62N		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCCTCCGGAACTTCTCTTTCT	0.403		NaN											0	0	0	0.014323	0	21	91				
SILV	6490	broad.mit.edu	37	12	56351375	56351375	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56351375G>A	uc001sip.2	-	6	743	c.712C>T	c.(712-714)CTG>TTG	p.L238L	SILV_uc001siq.2_Silent_p.L238L|SILV_uc010spx.1_Silent_p.L152L|SILV_uc001sir.2_Silent_p.L238L	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	238					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCAAAGGTCAGAGGCTGATTT	0.562		NaN											0	0	0	0.011902	0	38	114				
ERBB3	2065	broad.mit.edu	37	12	56480410	56480410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56480410G>A	uc001sjh.2	+	4	710	c.517G>A	c.(517-519)GAG>AAG	p.E173K	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.E114K|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	173	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCGAGATGCTGAGATAGTGGT	0.493		NaN											0	0	0	0.01441	0	44	102		Valid		
TRHDE	29953	broad.mit.edu	37	12	72666768	72666768	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:72666768G>C	uc001sxa.2	+	1	240	c.210G>C	c.(208-210)GCG>GCC	p.A70A	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	70	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AGTGCGGGGCGAGTGCCACGC	0.706		NaN											0	0	0	0.009096	0	4	4				
GLIPR1L1	256710	broad.mit.edu	37	12	75728668	75728668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:75728668G>A	uc001sxo.2	+	1	206	c.160G>A	c.(160-162)GAC>AAC	p.D54N	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.D54N	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	54						extracellular region					0						TCCCGCGGCCGACATGAAATA	0.473		NaN									OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004007	0	15	46				
LRRIQ1	84125	broad.mit.edu	37	12	85434370	85434370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:85434370G>A	uc001tac.2	+	3	346	c.235G>A	c.(235-237)GAT>AAT	p.D79N	LRRIQ1_uc001tab.1_Missense_Mutation_p.D79N|LRRIQ1_uc001taa.1_Missense_Mutation_p.D79N|LRRIQ1_uc001tad.2_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	79										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GGAAGATACTGATATTTTAAG	0.313		NaN											0	0	0	0.013537	0	9	54				
NT5DC3	51559	broad.mit.edu	37	12	104190738	104190738	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:104190738G>A	uc010swe.1	-	6	728	c.687C>T	c.(685-687)TGC>TGT	p.C229C		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	229							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						ATTCATTCACGCAGGACAGGA	0.478		NaN											0	0	0	0.010504	0	20	103				
TCP11L2	255394	broad.mit.edu	37	12	106740114	106740114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740114C>G	uc001tln.2	+	10	1540	c.1366C>G	c.(1366-1368)CAA>GAA	p.Q456E		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	456										ovary(3)	3						TCCAAGCCCTCAAAAATGCAT	0.398		NaN											0	0	0	0.010729	0	12	21				
TCP11L2	255394	broad.mit.edu	37	12	106740204	106740204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740204C>T	uc001tln.2	+	10	1630	c.1456C>T	c.(1456-1458)CTC>TTC	p.L486F		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	486										ovary(3)	3						CATTGTGAATCTCAACAAACA	0.453		NaN											0	0	0	0.00308	0	7	36				
PRDM4	11108	broad.mit.edu	37	12	108145485	108145485	+	Missense_Mutation	SNP	T	T	A	rs148244009		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:108145485T>A	uc001tmp.2	-	5	1270	c.833A>T	c.(832-834)AAT>ATT	p.N278I	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	278					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGACATGCCATTGACCCGACT	0.557		NaN											0	0	0	0.00245	0	11	40				
VSIG10	54621	broad.mit.edu	37	12	118533368	118533368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:118533368G>A	uc001tws.2	-	2	665	c.331C>T	c.(331-333)CAG>TAG	p.Q111*		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	111	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane					0						TGGAACCACTGAGTCACATTC	0.577		NaN											0	0	0	0.004656	0	21	133				
CIT	11113	broad.mit.edu	37	12	120173111	120173111	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120173111C>T	uc001txi.1	-	24	2937	c.2884G>A	c.(2884-2886)GAA>AAA	p.E962K	CIT_uc001txh.1_Missense_Mutation_p.E496K|CIT_uc001txj.1_Missense_Mutation_p.E1004K	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	962	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTTGAGTTCAGCGTTGTCC	0.478		NaN											0	0	0	0.008291	0	10	87				
GATC	283459	broad.mit.edu	37	12	120884567	120884567	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120884567C>T	uc010szi.1	+	2	189	c.189C>T	c.(187-189)TTC>TTT	p.F63F	TRIAP1_uc001tyg.2_5'Flank	NM_176818	NP_789788	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	63					regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTATCGCCTTCGCCGACCGGC	0.667		NaN											0	0	0	0.00245	0	12	29				
RNF10	9921	broad.mit.edu	37	12	120995453	120995453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120995453G>A	uc001typ.3	+	6	1418	c.935G>A	c.(934-936)TGG>TAG	p.W312*	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.W218*	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	312					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATCCAAATGGATGAATGTA	0.413		NaN											0	0	0	0.016522	0	21	93				
BRI3BP	140707	broad.mit.edu	37	12	125509837	125509837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:125509837G>A	uc001uha.1	+	3	760	c.617G>A	c.(616-618)CGA>CAA	p.R206Q		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	206						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TTCTACTGGCGAAGCAGTCCC	0.542		NaN											0	0	0	0.014758	0	3	19				
RIMBP2	23504	broad.mit.edu	37	12	130919336	130919336	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:130919336G>A	uc001uil.2	-	11	2309	c.2145C>T	c.(2143-2145)TTC>TTT	p.F715F	RIMBP2_uc001uim.2_Silent_p.F623F|RIMBP2_uc001uin.1_Silent_p.F374F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	715						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCCTCCTCTTGAAGTCTGGAG	0.612		NaN											0	0	0	0.00308	0	7	67				
EP400	57634	broad.mit.edu	37	12	132502128	132502128	+	Silent	SNP	C	C	T	rs138508770		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132502128C>T	uc001ujn.2	+	19	4007	c.3972C>T	c.(3970-3972)ATC>ATT	p.I1324I	EP400_uc001ujl.2_Silent_p.I1323I|EP400_uc001ujm.2_Silent_p.I1324I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1360	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTGAGCATCCTTGTGCGGC	0.607		NaN											0	0	0	0.009535	0	28	59				
EP400	57634	broad.mit.edu	37	12	132522554	132522554	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132522554G>A	uc001ujn.2	+	31	6155	c.6120G>A	c.(6118-6120)CCG>CCA	p.P2040P	EP400_uc001ujl.2_Silent_p.P2039P|EP400_uc001ujm.2_Silent_p.P1959P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2076					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGGCTTCCCGGTCAAAGCTG	0.463		NaN											0	0	0	0.01441	0	49	82				
RB1	5925	broad.mit.edu	37	13	49039354	49039354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:49039354C>A	uc001vcb.2	+	23	2505	c.2339C>A	c.(2338-2340)TCA>TAA	p.S780*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	780	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTACCTTGTCACCAATACCT	0.388		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			1	0	1.00798e-23	0.01441	1.08413e-23	46	67		Valid		
PCDH17	27253	broad.mit.edu	37	13	58208645	58208645	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:58208645G>A	uc001vhq.1	+	1	2857	c.1965G>A	c.(1963-1965)GTG>GTA	p.V655V	PCDH17_uc010aec.1_Silent_p.V655V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	655	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGAGGACGTGACGCCCGTGG	0.637		NaN											0	0	0	0.01441	0	61	107				
CUL4A	8451	broad.mit.edu	37	13	113900284	113900284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:113900284G>T	uc010tjy.1	+	16	1556	c.1545G>T	c.(1543-1545)CAG>CAT	p.Q515H	CUL4A_uc010tjx.1_Missense_Mutation_p.Q415H|CUL4A_uc010agu.2_Missense_Mutation_p.Q376H|CUL4A_uc010tjz.1_Missense_Mutation_p.Q194H	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	515					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGCAGAATCAGAGTGACTCAG	0.383		NaN											1	0	2.27111e-07	0.013537	2.38114e-07	10	26				
RNASE3	6037	broad.mit.edu	37	14	21360150	21360150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:21360150G>T	uc001vyj.2	+	2	359	c.305G>T	c.(304-306)AGA>ATA	p.R102I		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	102					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CATCGGAGTAGATTCCGGGTG	0.418		NaN											1	0	2.05212e-20	0.005524	2.19841e-20	34	67				
MYH7	4625	broad.mit.edu	37	14	23886487	23886487	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:23886487G>A	uc001wjx.2	-	32	4500	c.4394C>T	c.(4393-4395)TCG>TTG	p.S1465L		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1465	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCAGCTCCGACTGCGACTC	0.602		NaN											0	0	0	0.00333	0	23	64				
REC8	9985	broad.mit.edu	37	14	24647296	24647296	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:24647296G>C	uc001wmr.2	+	14	1292	c.865_splice	c.e14-1	p.R289_splice	REC8_uc001wms.2_Splice_Site_p.R289_splice	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog						mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		CCACTCAACAGAGGAGGCCCC	0.622		NaN											0	0	0	0.008871	0	16	49				
EAPP	55837	broad.mit.edu	37	14	35008795	35008795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:35008795C>T	uc001wsd.1	-	1	149	c.40G>A	c.(40-42)GAA>AAA	p.E14K		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	14					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTAGGCTCTTCAACCGCGTAG	0.627		NaN											0	0	0	0.00308	0	6	26				
YLPM1	56252	broad.mit.edu	37	14	75230697	75230697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:75230697C>T	uc001xqj.3	+	1	629	c.505C>T	c.(505-507)CAG>TAG	p.Q169*		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCCCACCTCAGCCGCCACC	0.622		NaN											0	0	0	0.004482	0	9	17				
POMT2	29954	broad.mit.edu	37	14	77772681	77772681	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:77772681C>G	uc001xti.2	-	3	638	c.437G>C	c.(436-438)GGA>GCA	p.G146A	POMT2_uc010asr.2_Missense_Mutation_p.G35A	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	146	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGCCTTACTCCTCTCATTCC	0.483		NaN											0	0	0	0.013537	0	12	35				
TSHR	7253	broad.mit.edu	37	14	81609785	81609785	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:81609785C>G	uc001xvd.1	+	10	1539	c.1383C>G	c.(1381-1383)TTC>TTG	p.F461L		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	461	Helical; Name=2; (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTGCGGATTTCTGCATGGGGA	0.542		NaN	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						0	0	0	0.015359	0	31	86				
ZC3H14	79882	broad.mit.edu	37	14	89038435	89038435	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:89038435G>C	uc001xww.2	+	5	522	c.297G>C	c.(295-297)AAG>AAC	p.K99N	ZC3H14_uc010twd.1_Missense_Mutation_p.K99N|ZC3H14_uc010twe.1_Missense_Mutation_p.K99N|ZC3H14_uc001xwx.2_Missense_Mutation_p.K99N|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Missense_Mutation_p.K65N|ZC3H14_uc010twg.1_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	99						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						CTTCAAACAAGAGCAATTTCA	0.413		NaN											0	0	0	0.008871	0	18	77				
SERPINA10	51156	broad.mit.edu	37	14	94754876	94754876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:94754876C>G	uc001yct.2	-	3	1205	c.739G>C	c.(739-741)GAC>CAC	p.D247H	SERPINA10_uc001ycu.3_Missense_Mutation_p.D247H	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	247					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGACAGGGTCAAATGGGGTC	0.453		NaN											0	0	0	0.007291	0	25	83				
SETD3	84193	broad.mit.edu	37	14	99871626	99871626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:99871626C>T	uc001ygc.2	-	10	1177	c.1007G>A	c.(1006-1008)AGA>AAA	p.R336K		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	336					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TATTTTCACTCTGTCGTGTGA	0.438		NaN											0	0	0	0.00632	0	29	62				
ARHGAP11B	89839	broad.mit.edu	37	15	30926523	30926523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:30926523G>A	uc001zet.1	+	4	593	c.448G>A	c.(448-450)GAG>AAG	p.E150K	ARHGAP11B_uc010azv.1_RNA|ARHGAP11B_uc001zeu.2_RNA	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	150	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GTTAGGCACAGAGGAAAAGAA	0.413		NaN											0	0	0	0.010504	0	15	57				
TRPM1	4308	broad.mit.edu	37	15	31318357	31318357	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:31318357C>A	uc001zfm.2	-	26	3676	c.3548G>T	c.(3547-3549)CGG>CTG	p.R1183L	TRPM1_uc010azy.2_Missense_Mutation_p.R1090L|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1183	Potential.|Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGAAGTGACCCGGATGCGCTC	0.622		NaN											1	0	2.31682e-05	0.003163	2.40576e-05	14	38				
CAPN3	825	broad.mit.edu	37	15	42703970	42703970	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:42703970G>C	uc001zpn.1	+	24	2771	c.2465G>C	c.(2464-2466)TGA>TCA	p.*822S	CAPN3_uc001zpk.1_Nonstop_Mutation_p.*589S|CAPN3_uc001zpl.1_Nonstop_Mutation_p.*729S|CAPN3_uc010udf.1_Nonstop_Mutation_p.*735S|CAPN3_uc010udg.1_Nonstop_Mutation_p.*687S|CAPN3_uc001zpo.1_Nonstop_Mutation_p.*816S|CAPN3_uc001zpp.1_Nonstop_Mutation_p.*730S|CAPN3_uc001zpq.1_Nonstop_Mutation_p.*310S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zps.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zpt.1_Nonstop_Mutation_p.*157S	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	822					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGTATGCCTGAACCAGGCTG	0.517		NaN											0	0	0	0.00308	0	6	49				
IGDCC4	57722	broad.mit.edu	37	15	65681731	65681731	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:65681731G>T	uc002aou.1	-	14	2637	c.2427C>A	c.(2425-2427)CTC>CTA	p.L809L	IGDCC4_uc002aot.1_Silent_p.L397L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	809	Fibronectin type-III 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						AGCCGCCAATGAGGATGTCTT	0.562		NaN											1	0	0.000274275	0.004482	0.000282634	7	51				
SMAD3	4088	broad.mit.edu	37	15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67457635G>A	uc002aqj.2	+	3	743	c.445G>A	c.(445-447)GAG>AAG	p.E149K	SMAD3_uc010ujr.1_Missense_Mutation_p.E44K|SMAD3_uc010ujs.1_Missense_Mutation_p.E105K|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	149	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602		NaN											0	0	0	0.008361	0	31	153				
SMAD3	4088	broad.mit.edu	37	15	67473650	67473650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67473650G>A	uc002aqj.2	+	6	1028	c.730G>A	c.(730-732)GTC>ATC	p.V244I	SMAD3_uc010ujr.1_Missense_Mutation_p.V139I|SMAD3_uc010ujs.1_Missense_Mutation_p.V200I|SMAD3_uc010ujt.1_Missense_Mutation_p.V49I	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	244	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GAACCAGCGCGTCGGGGAGAC	0.607		NaN											0	0	0	0.006214	0	8	52				
LMAN1L	79748	broad.mit.edu	37	15	75112416	75112416	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:75112416C>T	uc002ayt.1	+	7	752	c.750C>T	c.(748-750)TTC>TTT	p.F250F	LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	250	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						TCCTGACCTTCAGCCTGAGTG	0.612		NaN											0	0	0	0.012319	0	17	100				
TBC1D2B	23102	broad.mit.edu	37	15	78346479	78346479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:78346479C>T	uc002bcy.3	-	2	411	c.411G>A	c.(409-411)AAG>AAA	p.K137K	TBC1D2B_uc010bla.2_Silent_p.K137K	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	137	PH.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						ATTCCCATCTCTTCTGCTGAA	0.468		NaN											0	0	0	0.001855	0	12	45				
WDR90	197335	broad.mit.edu	37	16	716290	716290	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:716290C>T	uc002cii.1	+	37	4734	c.4680C>T	c.(4678-4680)TTC>TTT	p.F1560F	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.F175F|WDR90_uc010uul.1_Silent_p.F159F|WDR90_uc002cio.1_Silent_p.F159F|WDR90_uc010bqx.1_Silent_p.F159F|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1560	WD 19.									ovary(1)	1		Hepatocellular(780;0.0218)				GGACAACCTTCCGTGTGCTGA	0.627		NaN											0	0	0	0.004007	0	13	44				
CCNF	899	broad.mit.edu	37	16	2495468	2495468	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2495468G>A	uc002cqd.1	+	10	1027	c.939G>A	c.(937-939)CTG>CTA	p.L313L	CCNF_uc002cqe.1_Silent_p.L5L	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	313	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				GGTACATTCTGATCGACTGGC	0.592		NaN											0	0	0	0.016522	0	17	92				
PRSS21	10942	broad.mit.edu	37	16	2871063	2871063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2871063G>A	uc002crt.2	+	5	764	c.658G>A	c.(658-660)GAC>AAC	p.D220N	PRSS21_uc002crs.2_Missense_Mutation_p.D218N|PRSS21_uc002crr.2_Missense_Mutation_p.D220N	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	220	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						CATCTTTGGAGACATGGTTTG	0.537		NaN											0	0	0	0.01441	0	54	206				
UBN1	29855	broad.mit.edu	37	16	4924307	4924307	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924307G>C	uc002cyb.2	+	15	2235	c.1896G>C	c.(1894-1896)CTG>CTC	p.L632L	UBN1_uc010uxw.1_Silent_p.L632L|UBN1_uc002cyc.2_Silent_p.L632L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	632					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGGAGGCCTGAGTATTGGGG	0.542		NaN											0	0	0	0.00333	0	21	98				
UBN1	29855	broad.mit.edu	37	16	4924679	4924679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924679G>C	uc002cyb.2	+	15	2607	c.2268G>C	c.(2266-2268)GAG>GAC	p.E756D	UBN1_uc010uxw.1_Missense_Mutation_p.E756D|UBN1_uc002cyc.2_Missense_Mutation_p.E756D	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	756					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						AAAAACCAGAGAGTTCTGGCT	0.552		NaN											0	0	0	0.007413	0	17	58				
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4927465G>C	uc002cyb.2	+	17	3684	c.3345G>C	c.(3343-3345)CAG>CAC	p.Q1115H	UBN1_uc010uxw.1_Intron|UBN1_uc002cyc.2_Missense_Mutation_p.Q1115H	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ATATCCCGCAGAGTCTGCCAG	0.642		NaN											0	0	0	0.00632	0	27	140				
PPL	5493	broad.mit.edu	37	16	4933975	4933975	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4933975G>A	uc002cyd.1	-	22	4771	c.4681C>T	c.(4681-4683)CTG>TTG	p.L1561L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1561	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TCTTCCCTCAGAAAGTCTAGT	0.552		NaN											0	0	0	0.00245	0	13	65				
PPL	5493	broad.mit.edu	37	16	4934725	4934725	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934725G>A	uc002cyd.1	-	22	4021	c.3931C>T	c.(3931-3933)CTG>TTG	p.L1311L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1311	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TTTGCCCTCAGAGACGCCACC	0.557		NaN											0	0	0	0.00632	0	24	92				
PPL	5493	broad.mit.edu	37	16	4934737	4934737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934737C>A	uc002cyd.1	-	22	4009	c.3919G>T	c.(3919-3921)GAG>TAG	p.E1307*		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1307	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GACGCCACCTCCTCCTTGGTT	0.537		NaN											1	0	6.94344e-10	0.006122	7.35108e-10	18	86				
C16orf72	29035	broad.mit.edu	37	16	9210534	9210534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:9210534G>A	uc002czm.2	+	4	958	c.593G>A	c.(592-594)GGT>GAT	p.G198D		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	198										large_intestine(1)	1						GGTCTTAGTGGTGCAATGGCT	0.428		NaN											0	0	0	0.01441	0	404	92				
MYH11	4629	broad.mit.edu	37	16	15809038	15809038	+	Missense_Mutation	SNP	C	C	T	rs148743922	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:15809038C>T	uc002ddy.2	-	39	5703	c.5596G>A	c.(5596-5598)GAG>AAG	p.E1866K	MYH11_uc002ddv.2_Missense_Mutation_p.E1873K|MYH11_uc002ddw.2_Missense_Mutation_p.E1866K|MYH11_uc002ddx.2_Missense_Mutation_p.E1873K|MYH11_uc010bvg.2_Missense_Mutation_p.E1698K|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E572K	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1866	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTGTACTGCTCGGCCATCTTG	0.622		NaN	T	CBFB	AML								0	0	0	0.003163	0	13	97				
ABCC1	4363	broad.mit.edu	37	16	16110412	16110412	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16110412C>T	uc010bvi.2	+	5	724	c.549C>T	c.(547-549)CTC>CTT	p.L183L	ABCC1_uc010bvj.2_Silent_p.L183L|ABCC1_uc010bvk.2_Silent_p.L183L|ABCC1_uc010bvl.2_Silent_p.L183L|ABCC1_uc010bvm.2_Silent_p.L183L|ABCC1_uc002del.3_Silent_p.L67L|ABCC1_uc010bvn.2_Silent_p.L46L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	183	Helical; Name=5.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCTCTTACTCATTCAGCTCG	0.493		NaN											0	0	0	0.01441	0	53	276				
ABCC1	4363	broad.mit.edu	37	16	16138333	16138333	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16138333C>T	uc010bvi.2	+	8	1011	c.836C>T	c.(835-837)TCC>TTC	p.S279F	ABCC1_uc010bvj.2_Missense_Mutation_p.S279F|ABCC1_uc010bvk.2_Missense_Mutation_p.S279F|ABCC1_uc010bvl.2_Missense_Mutation_p.S279F|ABCC1_uc010bvm.2_Missense_Mutation_p.S279F|ABCC1_uc002del.3_Missense_Mutation_p.S163F|ABCC1_uc010bvn.2_Missense_Mutation_p.S142F	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	279	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTGTACTCCTCCAAGGATCCT	0.587		NaN											0	0	0	0.010729	0	10	49				
SMG1	23049	broad.mit.edu	37	16	18853033	18853033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:18853033C>T	uc002dfm.2	-	41	6913	c.6550G>A	c.(6550-6552)GAA>AAA	p.E2184K	SMG1_uc010bwb.2_Missense_Mutation_p.E2044K|SMG1_uc010bwa.2_Missense_Mutation_p.E915K|SMG1_uc002dfo.3_Missense_Mutation_p.E482K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2184	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CGGGGTGTTTCTTGGCGATTA	0.413		NaN											0	0	0	0.01441	0	115	164				
DNAH3	55567	broad.mit.edu	37	16	21082053	21082053	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:21082053T>A	uc010vbe.1	-	22	3179	c.3179A>T	c.(3178-3180)AAA>ATA	p.K1060I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1060	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTCTATTGGTTTGATGAATGG	0.433		NaN											0	0	0	0.00333	0	24	148				
IL21R	50615	broad.mit.edu	37	16	27460069	27460069	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:27460069C>G	uc002doq.1	+	9	1315	c.1082C>G	c.(1081-1083)TCA>TGA	p.S361*	IL21R_uc002dor.1_Nonsense_Mutation_p.S361*|IL21R_uc002dos.1_Nonsense_Mutation_p.S361*|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	361	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TCGGGGGGCTCAGCTTACAGT	0.617		NaN	T	BCL6	NHL								0	0	0	0.007413	0	13	64				
HIRIP3	8479	broad.mit.edu	37	16	30005479	30005479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30005479C>T	uc002dve.2	-	4	1448	c.987G>A	c.(985-987)TTG>TTA	p.L329L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	329					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TGCTTCCACTCAACCTCTTCC	0.572		NaN											0	0	0	0.009535	0	27	80				
MYLPF	29895	broad.mit.edu	37	16	30388008	30388008	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30388008C>G	uc002dxv.1	+	5	401	c.345C>G	c.(343-345)ATC>ATG	p.I115M		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	115	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			AGGGCACCATCAAGAAGAAGT	0.567		NaN											0	0	0	0.004672	0	3	19				
SRCAP	10847	broad.mit.edu	37	16	30749040	30749040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30749040C>G	uc002dze.1	+	34	8064	c.7679C>G	c.(7678-7680)TCT>TGT	p.S2560C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2355C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2560	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCATTGGCATCTCCAGAGTCC	0.562		NaN											0	0	0	0.00499	0	17	43		Valid		
RSPRY1	89970	broad.mit.edu	37	16	57250818	57250818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57250818G>T	uc002elb.2	+	8	1050	c.772G>T	c.(772-774)GAA>TAA	p.E258*	RSPRY1_uc002elc.2_Nonsense_Mutation_p.E258*|RSPRY1_uc002eld.2_Nonsense_Mutation_p.E258*	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	258						extracellular region	zinc ion binding			ovary(1)	1						CCAAACAGGTGAAAATAAATT	0.378		NaN											1	0	8.00594e-06	0.007413	8.32926e-06	16	78				
DOK4	55715	broad.mit.edu	37	16	57508744	57508744	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57508744T>C	uc010cdb.2	-	5	858	c.560A>G	c.(559-561)TAT>TGT	p.Y187C	DOK4_uc002elu.1_Missense_Mutation_p.Y187C|DOK4_uc002elv.3_Missense_Mutation_p.Y187C	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	187	IRS-type PTB.						insulin receptor binding			skin(1)	1						ATCCCGGCCATAGCGGCGCAG	0.597		NaN											0	0	0	0.004007	0	12	35				
KATNB1	10300	broad.mit.edu	37	16	57789144	57789144	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789144C>T	uc002eml.1	+	15	1784	c.1410C>T	c.(1408-1410)TTC>TTT	p.F470F		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	470	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CCTCCGACTTCCTGCCCGTGA	0.662		NaN											0	0	0	0.014758	0	3	13				
KATNB1	10300	broad.mit.edu	37	16	57789809	57789809	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789809G>C	uc002eml.1	+	17	1997	c.1623G>C	c.(1621-1623)CTG>CTC	p.L541L		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	541	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				TGGACCTCCTGAACATCGTCA	0.557		NaN											0	0	0	0.012319	0	17	40				
TMCO7	79613	broad.mit.edu	37	16	68909058	68909058	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:68909058G>A	uc002ewi.3	+	5	1008	c.996G>A	c.(994-996)GCG>GCA	p.A332A		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	332						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TTGTGCCAGCGGGAGCAGCTG	0.468		NaN											0	0	0	0.014323	0	17	50				
HYDIN	54768	broad.mit.edu	37	16	70942755	70942755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:70942755C>G	uc002ezr.2	-	48	8139	c.8011G>C	c.(8011-8013)GAG>CAG	p.E2671Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2672										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTGGTCTGCTCCTCTTGAGCC	0.423		NaN											0	0	0	0.012319	0	19	35				
ADAMTS18	170692	broad.mit.edu	37	16	77325218	77325218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77325218G>C	uc002ffc.3	-	21	3766	c.3347C>G	c.(3346-3348)CCA>CGA	p.P1116R		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1116	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGGATGGGCTGGGCAAGCCCG	0.512		NaN											0	0	0	0.007413	0	17	87				
ADAMTS18	170692	broad.mit.edu	37	16	77328882	77328882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77328882G>C	uc002ffc.3	-	19	3363	c.2944C>G	c.(2944-2946)CAG>GAG	p.Q982E	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q570E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	982	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCTTGGACCTGAGTGGGTGTG	0.542		NaN											0	0	0	0.00245	0	13	22				
MBTPS1	8720	broad.mit.edu	37	16	84135328	84135328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84135328G>C	uc002fhi.2	-	2	563	c.61C>G	c.(61-63)CTG>GTG	p.L21V		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	21					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CTGTCGCCCAGATGTTTCTTC	0.438		NaN											0	0	0	0.01441	0	39	81				
KCNG4	93107	broad.mit.edu	37	16	84256463	84256463	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84256463T>C	uc010voc.1	-	3	1041	c.920A>G	c.(919-921)TAC>TGC	p.Y307C		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	307	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CAGCGACACGTAGTATGGGGA	0.637		NaN											0	0	0	0.014758	0	4	15				
C16orf7	9605	broad.mit.edu	37	16	89777137	89777137	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:89777137C>G	uc002fom.1	-	10	1240	c.1115G>C	c.(1114-1116)GGA>GCA	p.G372A	C16orf7_uc002fol.1_Missense_Mutation_p.G302A|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	372					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTCTGGCAATCCAGATGCGGT	0.726		NaN											0	0	0	0.004672	0	2	6				
ZNF594	84622	broad.mit.edu	37	17	5086808	5086808	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:5086808G>T	uc010cla.1	-	2	900	c.744C>A	c.(742-744)TTC>TTA	p.F248L		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	248	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						TGCTTTGACTGAAAGCCTTCC	0.428		NaN											1	0	8.87156e-34	0.01441	9.59903e-34	72	84				
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578239C>G	uc002gim.2	-	6	804	c.610G>C	c.(610-612)GAG>CAG	p.E204Q	TP53_uc002gig.1_Missense_Mutation_p.E204Q|TP53_uc002gih.2_Missense_Mutation_p.E204Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E72Q|TP53_uc010cng.1_Missense_Mutation_p.E72Q|TP53_uc002gii.1_Missense_Mutation_p.E72Q|TP53_uc010cnh.1_Missense_Mutation_p.E204Q|TP53_uc010cni.1_Missense_Mutation_p.E204Q|TP53_uc002gij.2_Missense_Mutation_p.E204Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E111Q|TP53_uc002gio.2_Missense_Mutation_p.E72Q|TP53_uc010vug.1_Missense_Mutation_p.E165Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	204	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(23)|p.0?(7)|p.E204fs*5(3)|p.E204G(2)|p.E204E(2)|p.E204K(2)|p.E204fs*43(2)|p.K164_P219del(1)|p.E204Q(1)|p.E204D(1)|p.E204fs*4(1)|p.E204A(1)|p.V203_E204>V*(1)|p.E204V(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAATACTCCACACGCAAA	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.003954	0	21	39		Valid		
TP53	7157	broad.mit.edu	37	17	7578488	7578488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578488C>T	uc002gim.2	-	5	636	c.442G>A	c.(442-444)GAT>AAT	p.D148N	TP53_uc002gig.1_Missense_Mutation_p.D148N|TP53_uc002gih.2_Missense_Mutation_p.D148N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D16N|TP53_uc010cng.1_Missense_Mutation_p.D16N|TP53_uc002gii.1_Missense_Mutation_p.D16N|TP53_uc010cnh.1_Missense_Mutation_p.D148N|TP53_uc010cni.1_Missense_Mutation_p.D148N|TP53_uc002gij.2_Missense_Mutation_p.D148N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D55N|TP53_uc002gio.2_Missense_Mutation_p.D16N|TP53_uc010vug.1_Missense_Mutation_p.D109N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	148	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> N (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.D148E(4)|p.D148N(4)|p.D148V(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.D148Y(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.D148D(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGTGGAATCAACCCACAGC	0.602		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006999	0	36	32		Valid		
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578534C>G	uc002gim.2	-	5	590	c.396G>C	c.(394-396)AAG>AAC	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	132	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.010504	0	19	24		Valid		
CDRT1	374286	broad.mit.edu	37	17	15522810	15522810	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:15522810G>C	uc002gov.3	-	1	209	c.17C>G	c.(16-18)TCA>TGA	p.S6*	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	6											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTTGAGCCTTGATTCCAGGTT	0.498		NaN											0	0	0	0.01441	0	110	219				
KIAA0100	9703	broad.mit.edu	37	17	26950907	26950907	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:26950907G>T	uc002hbu.2	-	26	4929	c.4830C>A	c.(4828-4830)CAC>CAA	p.H1610Q	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1610						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGGCTGGATGGTGCTGGCACT	0.522		NaN											1	0	0.000274275	0.004482	0.000282634	8	173				
MYO18A	399687	broad.mit.edu	37	17	27413464	27413464	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:27413464G>A	uc002hdt.1	-	39	6002	c.5844C>T	c.(5842-5844)CTC>CTT	p.L1948L	MYO18A_uc010wbc.1_Silent_p.L1481L|MYO18A_uc002hds.2_Silent_p.L1490L|MYO18A_uc010csa.1_Silent_p.L1911L|MYO18A_uc002hdu.1_Silent_p.L1948L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1948	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGTTGATGAGGTCCTCAT	0.562		NaN											0	0	0	0.014758	0	3	7				
CCL1	6346	broad.mit.edu	37	17	32688819	32688819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688819G>C	uc002hid.1	-	2	245	c.173C>G	c.(172-174)TCC>TGC	p.S58C		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor	58					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCTCATTGGAGCAGATGGA	0.483		NaN									OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	57	128				
CCL1	6346	broad.mit.edu	37	17	32688887	32688887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688887G>C	uc002hid.1	-	2	177	c.105C>G	c.(103-105)TTC>TTG	p.F35L		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor	35					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGCAAATGAGAAGCAACATC	0.453		NaN									OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	28	77				
SLFN12L	342615	broad.mit.edu	37	17	33807129	33807129	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:33807129G>A	uc002hjn.2	-	3	1066	c.187C>T	c.(187-189)CTA>TTA	p.L63L		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						CCCACATTTAGAACCAGCTCA	0.388		NaN											0	0	0	0.006214	0	9	30				
MED24	9862	broad.mit.edu	37	17	38178927	38178927	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38178927G>C	uc002htt.2	-	21	2716	c.2403C>G	c.(2401-2403)CTC>CTG	p.L801L	MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.L136L|MED24_uc010wes.1_Silent_p.L661L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L826L|MED24_uc002htu.2_Silent_p.L788L|MED24_uc010cwn.2_Silent_p.L788L|MED24_uc010weu.1_Silent_p.L711L|MED24_uc010wev.1_Silent_p.L751L	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	801					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					GGGGGTCCATGAGGCTGTGCC	0.617		NaN											0	0	0	0.007413	0	14	24				
TOP2A	7153	broad.mit.edu	37	17	38563833	38563833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38563833G>A	uc002huq.2	-	13	1720	c.1594C>T	c.(1594-1596)CGT>TGT	p.R532C		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	532					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCCCATAACGAAGCGTCTTC	0.294		NaN											0	0	0	0.004482	0	7	14				
KRTAP9-8	83901	broad.mit.edu	37	17	39394331	39394331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:39394331C>T	uc002hwh.3	+	1	62	c.28C>T	c.(28-30)CAG>TAG	p.Q10*	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	10	1.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACGTG	0.592		NaN											0	0	0	0.003954	0	22	133				
KLHL11	55175	broad.mit.edu	37	17	40021195	40021195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:40021195C>T	uc002hyf.1	-	1	435	c.429G>A	c.(427-429)TGG>TGA	p.W143*		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	143	BTB.					extracellular region					0		Breast(137;0.00156)				GCTCGGAGCTCCACTTGCGCA	0.677		NaN											0	0	0	0.005443	0	23	40				
BRCA1	672	broad.mit.edu	37	17	41246522	41246522	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:41246522C>G	uc002icq.2	-	10	1258	c.1026G>C	c.(1024-1026)CTG>CTC	p.L342L	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L271L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L295L|BRCA1_uc002ict.2_Silent_p.L342L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L342L|BRCA1_uc002ide.1_Silent_p.L173L|BRCA1_uc010cyy.1_Silent_p.L342L|BRCA1_uc010whs.1_Silent_p.L342L|BRCA1_uc010cyz.2_Silent_p.L295L|BRCA1_uc010cza.2_Silent_p.L316L|BRCA1_uc010wht.1_Silent_p.L46L	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	342					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATCAGCATTCAGATCTACCT	0.438		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			0	0	0	0.008361	0	28	161				
CCDC43	124808	broad.mit.edu	37	17	42759437	42759437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:42759437G>C	uc002ihc.2	-	3	406	c.362C>G	c.(361-363)TCA>TGA	p.S121*	CCDC43_uc010czw.1_Nonsense_Mutation_p.S121*	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43 isoform 1	121	Potential.										0		Prostate(33;0.0322)				CTCCTCTTCTGACACCATCCT	0.498		NaN											0	0	0	0.00333	0	24	103				
LRRC37A2	474170	broad.mit.edu	37	17	44630810	44630810	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:44630810C>T	uc002ikn.1	+	11	4857	c.4854C>T	c.(4852-4854)TTC>TTT	p.F1618F	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F579F|ARL17A_uc002iks.2_3'UTR	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1618	Cytoplasmic (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGAAGGATTCTCAAGGTAAA	0.224		NaN											0	0	0	0.00632	0	21	155				
MYCBPAP	84073	broad.mit.edu	37	17	48596430	48596430	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:48596430C>A	uc010wmr.1	+	6	1039	c.877C>A	c.(877-879)CCA>ACA	p.P293T	MYCBPAP_uc002iqx.2_Missense_Mutation_p.P293T|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	256					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTGCACACTTCCAACCCGGCG	0.617		NaN											1	0	0.00198382	0.001984	0.00204039	5	52				
ACE	1636	broad.mit.edu	37	17	61564428	61564428	+	Missense_Mutation	SNP	G	G	C	rs148995315		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:61564428G>C	uc002jau.1	+	15	2321	c.2299G>C	c.(2299-2301)GAG>CAG	p.E767Q	ACE_uc002jav.1_Missense_Mutation_p.E193Q|ACE_uc010ddv.1_5'UTR|ACE_uc010wpj.1_Missense_Mutation_p.E193Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E77Q	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	767	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGCAGCTCGAGCCAGGTGA	0.617		NaN											0	0	0	0.008871	0	20	42				
DDX5	1655	broad.mit.edu	37	17	62499953	62499953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:62499953G>A	uc002jek.2	-	5	722	c.475C>T	c.(475-477)CAG>TAG	p.Q159*	DDX5_uc010deh.2_Nonsense_Mutation_p.Q159*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q54*|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	159	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGGAATGGCTGATGATTGATG	0.333		NaN	T	ETV4	prostate								0	0	0	0.00499	0	13	64				
ABCA5	23461	broad.mit.edu	37	17	67273900	67273900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:67273900G>C	uc002jif.2	-	18	3694	c.2476C>G	c.(2476-2478)CTT>GTT	p.L826V	ABCA5_uc002jic.2_Missense_Mutation_p.L49V|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L826V|ABCA5_uc002jih.2_Missense_Mutation_p.L826V|ABCA5_uc010dfe.2_Missense_Mutation_p.L826V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	826					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GTTTCAGAAAGAATAAGTAAG	0.363		NaN											0	0	0	0.003163	0	13	23				
DNAI2	64446	broad.mit.edu	37	17	72281227	72281227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:72281227G>C	uc002jkf.2	+	3	331	c.232G>C	c.(232-234)GAG>CAG	p.E78Q	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	78					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						TAACCATGTCGAGGGGGGCTG	0.562		NaN							Kartagener_syndrome				0	0	0	0.00308	0	5	68				
EVPL	2125	broad.mit.edu	37	17	74015086	74015086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:74015086C>T	uc002jqi.2	-	11	1421	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q	EVPL_uc010wss.1_Missense_Mutation_p.R398Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	398	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ATCCCGGCTTCGCCGCTGCAG	0.672		NaN											0	0	0	0.001168	0	5	9				
THOC1	9984	broad.mit.edu	37	18	226868	226868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:226868G>A	uc002kkj.3	-	12	992	c.952C>T	c.(952-954)CGT>TGT	p.R318C	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.R318C|THOC1_uc002kkh.3_5'Flank	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	318					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGTGTCGACGAAAGTTACTG	0.343		NaN											0	0	0	0.006122	0	13	8				
RIOK3	8780	broad.mit.edu	37	18	21044494	21044494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:21044494C>G	uc002kui.3	+	5	1062	c.445C>G	c.(445-447)CCC>GCC	p.P149A	RIOK3_uc010dls.2_Missense_Mutation_p.P149A|RIOK3_uc010xas.1_Missense_Mutation_p.P133A|RIOK3_uc010xat.1_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	149					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACCGGTTCCCACTCCTAA	0.363		NaN											0	0	0	0.004289	0	35	24				
KIAA1632	57724	broad.mit.edu	37	18	43496060	43496060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:43496060G>A	uc002lbm.2	-	19	3596	c.3496C>T	c.(3496-3498)CTC>TTC	p.L1166F	KIAA1632_uc002lbo.1_Missense_Mutation_p.L1166F|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L41F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1166					autophagy						0						ATGAGGAAGAGGATAGGTTGT	0.468		NaN											0	0	0	0.001984	0	6	72				
TCEB3B	51224	broad.mit.edu	37	18	44560549	44560549	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:44560549A>T	uc002lcr.1	-	1	1440	c.1087T>A	c.(1087-1089)TCC>ACC	p.S363T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	363					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCAGAGAGGGAGCTCACGGAC	0.542		NaN											0	0	0	0.006214	0	9	88				
ATP8B3	148229	broad.mit.edu	37	19	1783250	1783250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:1783250C>T	uc002ltw.2	-	29	3914	c.3680G>A	c.(3679-3681)GGC>GAC	p.G1227D	ATP8B3_uc002ltv.2_Missense_Mutation_p.G1190D|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1227	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCTGGGGCCCTCCTCCAC	0.592		NaN											0	0	0	0.009096	0	3	5				
TMEM146	257062	broad.mit.edu	37	19	5745953	5745953	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5745953C>A	uc002mda.2	+	9	748	c.687C>A	c.(685-687)CTC>CTA	p.L229L	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	229	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						ATCACCCCCTCAACCGGAGTT	0.498		NaN											1	0	3.16549e-35	0.01441	3.43192e-35	83	147				
FUT3	2525	broad.mit.edu	37	19	5844334	5844334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5844334C>T	uc002mdk.2	-	2	614	c.517G>A	c.(517-519)GAG>AAG	p.E173K	FUT3_uc002mdm.2_Missense_Mutation_p.E173K|FUT3_uc002mdj.2_Missense_Mutation_p.E173K|FUT3_uc002mdl.2_Missense_Mutation_p.E173K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	173	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						GACCACGGCTCCAGCCAGCCG	0.647		NaN											0	0	0	0.007413	0	14	28				
RANBP3	8498	broad.mit.edu	37	19	5941640	5941640	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5941640G>C	uc002mdw.2	-	5	625	c.398C>G	c.(397-399)TCA>TGA	p.S133*	RANBP3_uc002mdx.2_Nonsense_Mutation_p.S133*|RANBP3_uc002mdy.2_Nonsense_Mutation_p.S65*|RANBP3_uc002mdz.2_Nonsense_Mutation_p.S65*|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	133					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						ACCTGACTGTGAGGGTGGGAA	0.468		NaN											0	0	0	0.01441	0	37	57				
GTF2F1	2962	broad.mit.edu	37	19	6389529	6389529	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:6389529G>A	uc002meq.2	-	4	537	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Silent_p.Y56Y	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	84					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						GGACGATGCCGTACTTCTTCC	0.617		NaN											0	0	0	0.014758	0	5	207				
SNAPC2	6618	broad.mit.edu	37	19	7987050	7987050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7987050C>T	uc002miw.1	+	4	526	c.503C>T	c.(502-504)CCT>CTT	p.P168L	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	168					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						CCTGAAATACCTAGCTCTGCC	0.642		NaN											0	0	0	0.013537	0	10	89				
TIMM44	10469	broad.mit.edu	37	19	7992547	7992547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7992547C>T	uc002miz.2	-	12	1236	c.1234G>A	c.(1234-1236)GAC>AAC	p.D412N	TIMM44_uc002mja.2_Missense_Mutation_p.D152N|CTXN1_uc002miy.3_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	412					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CTCACCGGGTCACCCTCCACC	0.632		NaN											0	0	0	0.004656	0	20	157				
MUC16	94025	broad.mit.edu	37	19	9001862	9001862	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:9001862C>G	uc002mkp.2	-	53	40590	c.40386G>C	c.(40384-40386)TCG>TCC	p.S13462S	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S279S|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGAGTTCTCGAGGTTGCCA	0.488		NaN											0	0	0	0.010729	0	5	15				
ZNF136	7695	broad.mit.edu	37	19	12296680	12296680	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12296680C>G	uc002mti.2	+	2	184	c.84C>G	c.(82-84)CTC>CTG	p.L28L	ZNF136_uc010xmh.1_Intron	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	28	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2						AGAAGAATCTCTACAGAGATG	0.443		NaN											0	0	0	0.007291	0	23	41				
PRDX2	7001	broad.mit.edu	37	19	12911834	12911834	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12911834G>A	uc002mvd.2	-	3	303	c.153C>T	c.(151-153)TGC>TGT	p.C51C	PRDX2_uc002mve.1_Silent_p.C51C	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	51	Thioredoxin.	Cysteine sulfenic acid (-SOH) intermediate.			anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TCTCGGTGGGGCACACAAAAG	0.587		NaN											0	0	0	0.001984	0	6	31				
CACNA1A	773	broad.mit.edu	37	19	13340984	13340984	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:13340984C>G	uc010dze.2	-	36	5679	c.5443G>C	c.(5443-5445)GAG>CAG	p.E1815Q	CACNA1A_uc010xnd.1_Missense_Mutation_p.E520Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.E520Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1340Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.E1814Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.E331Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1815	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTGAGGTACTCAAAGTTGTCC	0.577		NaN											0	0	0	0.001168	0	4	34				
CYP4F8	11283	broad.mit.edu	37	19	15734173	15734173	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:15734173C>T	uc002nbi.2	+	9	970	c.906C>T	c.(904-906)CTC>CTT	p.L302L	CYP4F8_uc010xoj.1_Silent_p.L114L	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	302					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1						TTGATGTGCTCCTGCTGAGCG	0.537		NaN											0	0	0	0.003163	0	12	34				
CYP4F2	8529	broad.mit.edu	37	19	16001219	16001219	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:16001219C>G	uc002nbs.1	-	6	600	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	CYP4F2_uc010xot.1_Missense_Mutation_p.E35Q|CYP4F2_uc010xou.1_Missense_Mutation_p.E35Q	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	184					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						GCACTACCCTCTGAGGCCAGG	0.542		NaN											0	0	0	0.016522	0	19	75				
ABHD8	79575	broad.mit.edu	37	19	17411697	17411697	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:17411697C>T	uc002ngb.3	-	2	969	c.729G>A	c.(727-729)AAG>AAA	p.K243K		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	243							hydrolase activity				0						CATTTCGCTTCTTGGCATAGC	0.597		NaN											0	0	0	0.007835	0	36	150				
KCNN1	3780	broad.mit.edu	37	19	18099287	18099287	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18099287G>A	uc002nht.2	+	7	1433	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	KCNN1_uc010xqa.1_Missense_Mutation_p.E375K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	375					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						CACCAAGGCTGAGAAGCACGT	0.637		NaN											0	0	0	0.004482	0	7	16				
KIAA1683	80726	broad.mit.edu	37	19	18376060	18376060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18376060C>T	uc002nin.2	-	3	2506	c.2290G>A	c.(2290-2292)GAT>AAT	p.D764N	KIAA1683_uc010ebn.2_Missense_Mutation_p.D764N|KIAA1683_uc010xqe.1_Missense_Mutation_p.D718N	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	764						mitochondrion				ovary(2)	2						CTGCTGAGATCAGCAGCCTGG	0.657		NaN											0	0	0	0.011902	0	39	77				
SSBP4	170463	broad.mit.edu	37	19	18543520	18543520	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18543520C>G	uc002niy.2	+	12	999	c.761C>G	c.(760-762)TCC>TGC	p.S254C	SSBP4_uc002niz.2_Missense_Mutation_p.S232C	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4 isoform a	254	Pro-rich.					nucleus	single-stranded DNA binding				0						ATCCCCTACTCCTCCTCATCC	0.642		NaN											0	0	0	0.006214	0	7	16				
GPATCH1	55094	broad.mit.edu	37	19	33608848	33608848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:33608848G>A	uc002nug.1	+	16	2628	c.2314G>A	c.(2314-2316)GAG>AAG	p.E772K	GPATCH1_uc002nuh.1_Missense_Mutation_p.E149K	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	772						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					CTCCGAGGATGAGCAAGGTGA	0.552		NaN											0	0	0	0.00308	0	7	57				
ZNF599	148103	broad.mit.edu	37	19	35250830	35250830	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:35250830G>A	uc010edn.1	-	4	1264	c.876C>T	c.(874-876)TTC>TTT	p.F292F	ZNF599_uc010edm.1_Silent_p.F255F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	292	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCGGTGGGTGAATGCTTTGC	0.453		NaN											0	0	0	0.013114	0	42	96				
ZNF585B	92285	broad.mit.edu	37	19	37677474	37677474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:37677474C>G	uc002ofq.2	-	5	1219	c.965G>C	c.(964-966)AGA>ACA	p.R322T	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.R136T	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGCTTCACTCTTGTGTGAAC	0.378		NaN											0	0	0	0.003755	0	30	130				
NFKBIB	4793	broad.mit.edu	37	19	39399404	39399404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399404C>T	uc002ojw.2	+	6	1061	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	335					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCACAGCAGCCGCAGCCAAAC	0.567		NaN											0	0	0	0.01441	0	38	85				
NFKBIB	4793	broad.mit.edu	37	19	39399438	39399438	+	Nonsense_Mutation	SNP	C	C	G	rs11551804		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399438C>G	uc002ojw.2	+	6	1095	c.1037C>G	c.(1036-1038)TCA>TGA	p.S346*	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	346					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCAGCCTCAAAACCTCTT	0.527		NaN											0	0	0	0.00874	0	35	79				
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:41622139G>A	uc002opu.1	+	2	102	c.46G>A	c.(46-48)GTC>ATC	p.V16I	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	16					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CCTGGCTCTCGTCTGTCTGCT	0.577		NaN											0	0	0	0.006122	0	15	121				
EXOC3L2	90332	broad.mit.edu	37	19	45720793	45720793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45720793C>T	uc002pay.1	-	8	853	c.812G>A	c.(811-813)CGG>CAG	p.R271Q		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	271	Potential.									ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GACCAGCCGCCGGAACAGCCT	0.701		NaN											0	0	0	0.004672	0	3	12				
MARK4	57787	broad.mit.edu	37	19	45767943	45767943	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45767943G>A	uc002pbb.1	+	5	362	c.357G>A	c.(355-357)GTG>GTA	p.V119V	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.V119V|MARK4_uc002pbc.1_5'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	119	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCATTATAGTGAAGCTCTTTG	0.552		NaN											0	0	0	0.011902	0	38	91				
FOSB	2354	broad.mit.edu	37	19	45975962	45975962	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45975962G>A	uc002pbx.3	+	4	1301	c.709G>A	c.(709-711)GAG>AAG	p.E237K	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.E162K|FOSB_uc002pby.3_Missense_Mutation_p.E201K|FOSB_uc010eka.1_Missense_Mutation_p.E198K|FOSB_uc010ekb.1_Missense_Mutation_p.E237K|FOSB_uc010ekc.1_Missense_Mutation_p.E94K|FOSB_uc010ekf.2_Missense_Mutation_p.E198K|FOSB_uc010ekd.1_Missense_Mutation_p.E201K|FOSB_uc010ekg.2_Missense_Mutation_p.E94K|FOSB_uc002pca.3_Missense_Mutation_p.E188K	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	237					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCCGCTGGCGGAGGTGAGAGA	0.667		NaN											0	0	0	0.008291	0	9	22				
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:47572355C>T	uc002pga.3	-	14	2430	c.2392G>A	c.(2392-2394)GAG>AAG	p.E798K	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677		NaN											0	0	0	0.007835	0	39	107				
EHD2	30846	broad.mit.edu	37	19	48244215	48244215	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:48244215G>A	uc002phj.3	+	6	1408	c.1158G>A	c.(1156-1158)CTG>CTA	p.L386L	EHD2_uc010xyu.1_Silent_p.L250L|EHD2_uc010xyv.1_Silent_p.L69L	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	386					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGAGATGCTGACGCACGACA	0.647		NaN											0	0	0	0.003954	0	22	31				
ALDH16A1	126133	broad.mit.edu	37	19	49967512	49967512	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:49967512G>A	uc002pnt.2	+	10	1439	c.1323G>A	c.(1321-1323)CTG>CTA	p.L441L	ALDH16A1_uc010yar.1_Silent_p.L390L|ALDH16A1_uc010yas.1_Silent_p.L276L|ALDH16A1_uc010yat.1_Silent_p.L278L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	441							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGCTGGAGCTGGGCTATGGGT	0.667		NaN											0	0	0	0.001168	0	5	14				
ZNF880	400713	broad.mit.edu	37	19	52887440	52887440	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:52887440C>G	uc002pzc.2	+	4	656	c.607C>G	c.(607-609)CAA>GAA	p.Q203E		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	203	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						TGCTAACAATCAAGTAATCCA	0.373		NaN											0	0	0	0.001168	0	6	16				
LENG9	94059	broad.mit.edu	37	19	54973627	54973627	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:54973627C>T	uc010yez.1	-	1	1268	c.1149G>A	c.(1147-1149)CTG>CTA	p.L383L		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	383					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCCGTCTCAGAGCTCCAA	0.657		NaN											0	0	0	0.006214	0	7	39				
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55107923C>T	uc002qgh.1	+	7	1410	c.1228C>T	c.(1228-1230)CAC>TAC	p.H410Y	LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	410	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612		NaN											0	0	0	0.01441	0	38	108				
KIR2DL1	3802	broad.mit.edu	37	19	55294990	55294990	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55294990G>A	uc002qhb.1	+	7	908	c.870G>A	c.(868-870)GAG>GAA	p.E290E	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Silent_p.E291E|KIR2DL1_uc002qgz.1_Silent_p.E200E|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.E316E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	290	Cytoplasmic (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CGAATAGCGAGGTAGGTACTC	0.532		NaN											0	0	0	0.010771	0	35	81				
NLRP2	55655	broad.mit.edu	37	19	55508805	55508805	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55508805G>C	uc002qij.2	+	12	3086	c.3000G>C	c.(2998-3000)AAG>AAC	p.K1000N	NLRP2_uc010yfp.1_Missense_Mutation_p.K977N|NLRP2_uc010esn.2_Missense_Mutation_p.K976N|NLRP2_uc010eso.2_Missense_Mutation_p.K997N|NLRP2_uc010esp.2_Missense_Mutation_p.K978N	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1000	LRR 7.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGGAGTGAAGATGCTGTTTG	0.527		NaN											0	0	0	0.008361	0	24	133				
ZNF749	388567	broad.mit.edu	37	19	57956341	57956341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:57956341G>A	uc002qoq.2	+	3	2079	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCACACTGGAGAAAAGCCTTA	0.388		NaN											0	0	0	0.006214	0	7	57				
CHMP2A	27243	broad.mit.edu	37	19	59063468	59063468	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:59063468C>T	uc002qti.2	-	3	859	c.433G>A	c.(433-435)GAT>AAT	p.D145N	CHMP2A_uc002qtj.2_Missense_Mutation_p.D145N|CHMP2A_uc002qtk.2_Missense_Mutation_p.D145N	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	145	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCAATGGCATCATTCATCATC	0.517		NaN											0	0	0	0.010771	0	39	181				
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:1842969C>T	uc002qxe.2	-	21	3859	c.3032G>A	c.(3031-3033)GGA>GAA	p.G1011E	MYT1L_uc002qxd.2_Missense_Mutation_p.G1009E|MYT1L_uc010ewk.2_Missense_Mutation_p.G7E	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1011	C2HC-type 6.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667		NaN											0	0	0	0.013537	0	9	39				
ASAP2	8853	broad.mit.edu	37	2	9484706	9484706	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:9484706C>A	uc002qzh.2	+	10	1235	c.895C>A	c.(895-897)CAG>AAG	p.Q299K	ASAP2_uc002qzi.2_Missense_Mutation_p.Q299K	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	299					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						ACATCAGCCTCAGGGAAACAA	0.458		NaN											1	0	2.2171e-23	0.009535	2.37987e-23	24	66				
NCOA1	8648	broad.mit.edu	37	2	24980905	24980905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:24980905G>C	uc002rfk.2	+	19	4203	c.3945G>C	c.(3943-3945)ATG>ATC	p.M1315I	NCOA1_uc010eye.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1164I|NCOA1_uc002rfj.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfl.2_Missense_Mutation_p.M1315I|NCOA1_uc010eyf.2_Missense_Mutation_p.M208I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1315									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACAACATGAGCATCACCG	0.473		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.007413	0	20	55				
DTNB	1838	broad.mit.edu	37	2	25803618	25803618	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803618G>A	uc002rgh.2	-	7	931	c.681C>T	c.(679-681)CTC>CTT	p.L227L	DTNB_uc010yko.1_Silent_p.L170L|DTNB_uc010ykp.1_Silent_p.L23L|DTNB_uc002rgo.2_Silent_p.L48L|DTNB_uc002rgi.2_Silent_p.L227L|DTNB_uc002rgj.2_Silent_p.L227L|DTNB_uc002rgk.2_Silent_p.L227L|DTNB_uc002rgl.2_Silent_p.L227L|DTNB_uc002rgq.2_Silent_p.L227L|DTNB_uc002rgm.2_Silent_p.L227L|DTNB_uc002rgn.2_Silent_p.L23L|DTNB_uc002rgr.1_Silent_p.L216L|DTNB_uc010ykq.1_Silent_p.L80L	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	227						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGTGCATGAGAGGTAGCC	0.398		NaN											0	0	0	0.012213	0	28	72				
DTNB	1838	broad.mit.edu	37	2	25803620	25803620	+	Missense_Mutation	SNP	G	G	A	rs111695014	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803620G>A	uc002rgh.2	-	7	929	c.679C>T	c.(679-681)CTC>TTC	p.L227F	DTNB_uc010yko.1_Missense_Mutation_p.L170F|DTNB_uc010ykp.1_Missense_Mutation_p.L23F|DTNB_uc002rgo.2_Missense_Mutation_p.L48F|DTNB_uc002rgi.2_Missense_Mutation_p.L227F|DTNB_uc002rgj.2_Missense_Mutation_p.L227F|DTNB_uc002rgk.2_Missense_Mutation_p.L227F|DTNB_uc002rgl.2_Missense_Mutation_p.L227F|DTNB_uc002rgq.2_Missense_Mutation_p.L227F|DTNB_uc002rgm.2_Missense_Mutation_p.L227F|DTNB_uc002rgn.2_Missense_Mutation_p.L23F|DTNB_uc002rgr.1_Missense_Mutation_p.L216F|DTNB_uc010ykq.1_Missense_Mutation_p.L80F	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	227						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCATGAGAGGTAGCCAG	0.398		NaN											0	0	0	0.015359	0	29	72				
GCKR	2646	broad.mit.edu	37	2	27729747	27729747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:27729747G>C	uc002rky.2	+	12	1127	c.1061G>C	c.(1060-1062)GGT>GCT	p.G354A	GCKR_uc010ezd.2_Splice_Site_p.D354_splice|GCKR_uc010ylu.1_Missense_Mutation_p.G164A	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	354	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					CACACCTTTGGTGCTGGTGGG	0.552		NaN											0	0	0	0.01441	0	48	109				
CEBPZ	10153	broad.mit.edu	37	2	37449631	37449631	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:37449631C>G	uc002rpz.2	-	4	1987	c.1957G>C	c.(1957-1959)GAA>CAA	p.E653Q		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	653					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				ATCTCTGTTTCTTTGTCTGCA	0.343		NaN											0	0	0	0.00245	0	13	40				
PPM1B	5495	broad.mit.edu	37	2	44428664	44428664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:44428664G>A	uc002rtt.2	+	2	754	c.326G>A	c.(325-327)GGA>GAA	p.G109E	PPM1B_uc002rts.2_Missense_Mutation_p.G109E|PPM1B_uc002rtu.2_Missense_Mutation_p.G109E|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.G109E|PPM1B_uc002rtx.2_Missense_Mutation_p.G109E	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	109					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCAGAACTGGATTTTTGAAA	0.403		NaN											0	0	0	0.004656	0	26	58				
MDH1	4190	broad.mit.edu	37	2	63824624	63824624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:63824624G>C	uc002scj.1	+	4	347	c.291G>C	c.(289-291)GAG>GAC	p.E97D	MDH1_uc010ypv.1_Missense_Mutation_p.E115D|MDH1_uc010ypw.1_Missense_Mutation_p.E2D	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	97					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	AAGGCATGGAGAGAAAAGATT	0.443		NaN											0	0	0	0.001855	0	11	20				
EMX1	2016	broad.mit.edu	37	2	73160999	73160999	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73160999G>A	uc002sin.1	+	3	1167	c.789G>A	c.(787-789)AAG>AAA	p.K263K	EMX1_uc002sim.1_3'UTR	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCAGAAGAAGAAGGGCTCCC	0.582		NaN											0	0	0	0.010729	0	10	41				
RAB11FIP5	26056	broad.mit.edu	37	2	73315235	73315235	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73315235T>C	uc002siu.3	-	3	1752	c.1511A>G	c.(1510-1512)AAG>AGG	p.K504R	RAB11FIP5_uc002sit.3_Missense_Mutation_p.K426R	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	504					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						ACTCTTGGCCTTTTCCTCCCC	0.592		NaN											0	0	0	0.004672	0	3	113				
C2orf78	388960	broad.mit.edu	37	2	74043174	74043174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:74043174G>C	uc002sjr.1	+	3	1945	c.1824G>C	c.(1822-1824)AAG>AAC	p.K608N		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	608	Lys-rich.									ovary(2)	2						TGAAACGGAAGAAAAATCAAC	0.453		NaN											0	0	0	0.007413	0	15	33				
POLR1A	25885	broad.mit.edu	37	2	86305287	86305287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:86305287C>T	uc002sqs.2	-	10	1586	c.1207G>A	c.(1207-1209)GAT>AAT	p.D403N	POLR1A_uc002sqv.2_Missense_Mutation_p.D403N	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	403					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						ATCTCGCTATCAAACACAATA	0.413		NaN											0	0	0	0.007413	0	18	47				
KCNIP3	30818	broad.mit.edu	37	2	96047361	96047361	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96047361C>T	uc002sup.2	+	6	580	c.465C>T	c.(463-465)CTC>CTT	p.L155L	KCNIP3_uc002suq.2_Silent_p.L129L	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	155	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		TGGTTGGCCTCTCCATCCTGC	0.522		NaN											0	0	0	0.014323	0	17	38				
DUSP2	1844	broad.mit.edu	37	2	96809649	96809649	+	Silent	SNP	G	G	A	rs147952657	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96809649G>A	uc002svk.3	-	4	944	c.858C>T	c.(856-858)TTC>TTT	p.F286F		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	286	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				GCTGCTTAACGAAGTCAAAGG	0.617		NaN											0	0	0	0.013537	0	10	22				
PDCL3	79031	broad.mit.edu	37	2	101188178	101188178	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:101188178G>A	uc002tao.2	+	5	607	c.495G>A	c.(493-495)ACG>ACA	p.T165T		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	165					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						ATCTGCCCACGATATTTGTTT	0.458		NaN											0	0	0	0.004878	0	34	236				
GCC2	9648	broad.mit.edu	37	2	109087226	109087226	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109087226G>C	uc002tec.2	+	6	1595	c.1441G>C	c.(1441-1443)GAG>CAG	p.E481Q	GCC2_uc002ted.2_Missense_Mutation_p.E380Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	481	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						TTTAAATTATGAGAGTTTACG	0.333		NaN											0	0	0	0.00499	0	16	48				
GCC2	9648	broad.mit.edu	37	2	109089346	109089346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109089346G>C	uc002tec.2	+	7	3005	c.2851G>C	c.(2851-2853)GAA>CAA	p.E951Q	GCC2_uc002ted.2_Missense_Mutation_p.E850Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	951	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AGAGTTGGAAGAAAAAATAGG	0.308		NaN											0	0	0	0.004482	0	9	22				
ANKRD57	65124	broad.mit.edu	37	2	110373639	110373639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:110373639G>C	uc002tfb.2	+	1	1729	c.1573G>C	c.(1573-1575)GGG>CGG	p.G525R	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	525											0						CAATGTATTTGGGTAAAAATT	0.448		NaN											0	0	0	0.00245	0	14	18				
ACOXL	55289	broad.mit.edu	37	2	111562905	111562905	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:111562905A>G	uc002tgr.3	+	9	910	c.686A>G	c.(685-687)AAT>AGT	p.N229S	ACOXL_uc010fkc.2_Missense_Mutation_p.N229S|ACOXL_uc010yxk.1_Missense_Mutation_p.N229S	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	229					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						GCAAGATTCAATGCCATGCTG	0.458		NaN											0	0	0	0.008361	0	30	85				
DBI	1622	broad.mit.edu	37	2	120128357	120128357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120128357G>A	uc002tlv.2	+	3	293	c.169G>A	c.(169-171)GAT>AAT	p.D57N	DBI_uc010yyh.1_Missense_Mutation_p.D74N|DBI_uc010yyi.1_Missense_Mutation_p.D74N|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.D99N|DBI_uc010yyl.1_Missense_Mutation_p.D74N|DBI_uc010yym.1_Missense_Mutation_p.D67N|DBI_uc010yyn.1_Missense_Mutation_p.D74N|DBI_uc002tlw.2_Missense_Mutation_p.D74N|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.D58N	NM_001079862	NP_001073331	P07108	ACBP_HUMAN	diazepam binding inhibitor isoform 3	57	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding				0						GGCCAAGTGGGATGCCTGGAA	0.428		NaN											0	0	0	0.00308	0	5	34				
SCTR	6344	broad.mit.edu	37	2	120204358	120204358	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120204358C>G	uc002tma.2	-	11	1343	c.1117G>C	c.(1117-1119)GAA>CAA	p.E373Q	SCTR_uc002tlz.2_Missense_Mutation_p.E195Q	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	373	Helical; Name=7; (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	AGGGCTAGTTCAAAAAACAGC	0.547		NaN											0	0	0	0.010504	0	21	57				
PCDP1	200373	broad.mit.edu	37	2	120413951	120413951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120413951C>G	uc002tmb.2	+	25	2662	c.1570C>G	c.(1570-1572)CAA>GAA	p.Q524E		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	810						cilium	calmodulin binding				0	Colorectal(110;0.196)					AGTGAAAGATCAAGCACAACC	0.488		NaN											0	0	0	0.00308	0	6	20				
TMEM177	80775	broad.mit.edu	37	2	120439083	120439083	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120439083C>T	uc010flg.1	+	2	1127	c.654C>T	c.(652-654)TTC>TTT	p.F218F	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.F218F|TMEM177_uc002tmd.2_Silent_p.F218F|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	218	Helical; (Potential).					integral to membrane				ovary(1)	1	Colorectal(110;0.196)					CCTACGCCTTCTCCCAGGATT	0.612		NaN											0	0	0	0.003163	0	13	50				
ARHGAP15	55843	broad.mit.edu	37	2	143913219	143913219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:143913219G>A	uc002tvm.3	+	2	311	c.160G>A	c.(160-162)GAA>AAA	p.E54K	ARHGAP15_uc010zbl.1_Missense_Mutation_p.E54K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	54					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAAGGTCACTGAACCTGTAAG	0.393		NaN											0	0	0	0.012319	0	19	58				
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:149248116G>C	uc002twm.3	+	12	5204	c.4216G>C	c.(4216-4218)GAA>CAA	p.E1406Q	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1406Q|MBD5_uc002two.2_Missense_Mutation_p.E664Q|MBD5_uc002twp.2_Missense_Mutation_p.E456Q	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403		NaN											0	0	0	0.008291	0	10	33				
RBM43	375287	broad.mit.edu	37	2	152112060	152112060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:152112060G>C	uc002txh.2	-	2	349	c.201C>G	c.(199-201)TTC>TTG	p.F67L		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	67	RRM.						nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTTCTTTGAATATTACAT	0.289		NaN											0	0	0	0.001984	0	6	86				
FAP	2191	broad.mit.edu	37	2	163030297	163030297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:163030297G>A	uc002ucd.2	-	23	2178	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	FAP_uc010fpc.2_Missense_Mutation_p.A206V|FAP_uc010zct.1_Missense_Mutation_p.A632V|FAP_uc010fpd.2_Missense_Mutation_p.A136V	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	657	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						GTAGACAGACGCTATAAAATA	0.318		NaN											0	0	0	0.01441	0	40	130				
TTN	7273	broad.mit.edu	37	2	179395756	179395756	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179395756C>T	uc010zfg.1	-	307	98106	c.97882G>A	c.(97882-97884)GAG>AAG	p.E32628K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26323K|TTN_uc010zfi.1_Missense_Mutation_p.E26256K|TTN_uc010zfj.1_Missense_Mutation_p.E26131K|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33555							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTGCCCTCATCGGAAGCC	0.478		NaN											0	0	0	0.01441	0	93	261				
TTN	7273	broad.mit.edu	37	2	179421783	179421783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179421783C>G	uc010zfg.1	-	279	80618	c.80394G>C	c.(80392-80394)AAG>AAC	p.K26798N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20493N|TTN_uc010zfi.1_Missense_Mutation_p.K20426N|TTN_uc010zfj.1_Missense_Mutation_p.K20301N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27725							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTGTAATCTTGCTACCTC	0.443		NaN											0	0	0	0.013537	0	10	18				
ZNF804A	91752	broad.mit.edu	37	2	185802674	185802674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:185802674G>A	uc002uph.2	+	4	3145	c.2551G>A	c.(2551-2553)GAA>AAA	p.E851K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	851						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GTTAATAAGTGAAGACAAAAA	0.348		NaN											0	0	0	0.008291	0	9	31				
CALCRL	10203	broad.mit.edu	37	2	188228182	188228182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:188228182G>A	uc002upv.3	-	9	1096	c.548C>T	c.(547-549)TCA>TTA	p.S183L	CALCRL_uc010frt.2_Missense_Mutation_p.S183L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	183	Helical; Name=2; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACAAACAAATGAGAAGAACAG	0.368		NaN											0	0	0	0.007413	0	17	42				
DNAH7	56171	broad.mit.edu	37	2	196673469	196673469	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:196673469G>C	uc002utj.3	-	53	10121	c.10020C>G	c.(10018-10020)TTC>TTG	p.F3340L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3340					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GAATGGTTTTGAAGGCAGGCA	0.388		NaN											0	0	0	0.01441	0	38	94				
SPATS2L	26010	broad.mit.edu	37	2	201305422	201305422	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:201305422C>T	uc002uvn.3	+	8	1055	c.703C>T	c.(703-705)CTA>TTA	p.L235L	SPATS2L_uc010fst.2_Silent_p.L235L|SPATS2L_uc002uvo.3_Silent_p.L175L|SPATS2L_uc002uvp.3_Silent_p.L235L|SPATS2L_uc002uvq.3_Silent_p.L166L|SPATS2L_uc002uvr.3_Silent_p.L235L|SPATS2L_uc010zhc.1_Silent_p.L265L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	235						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						CACCGTTTCTCTAACTAGATA	0.373		NaN											0	0	0	0.010504	0	21	38				
CASP8	841	broad.mit.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202149751C>T	uc002uxr.1	+	9	1224	c.1015C>T	c.(1015-1017)CAG>TAG	p.Q339*	CASP8_uc002uxp.1_Nonsense_Mutation_p.Q356*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q398*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q255*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	339					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GCTGACATCTCAGTTCACTGG	0.478		NaN								HNSCC(4;0.00038)			0	0	0	0.010771	0	38	109				
ALS2CR12	130540	broad.mit.edu	37	2	202163981	202163981	+	Missense_Mutation	SNP	C	C	T	rs150075649		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202163981C>T	uc010ftg.2	-	12	1366	c.922G>A	c.(922-924)GAG>AAG	p.E308K	ALS2CR12_uc002uya.3_Missense_Mutation_p.E308K|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	308	Potential.				regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TTTCTCAGCTCTTCTAATTGC	0.368		NaN											0	0	0	0.005443	0	25	67				
ALS2CR12	130540	broad.mit.edu	37	2	202164015	202164015	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202164015C>G	uc010ftg.2	-	12	1332	c.888G>C	c.(886-888)TTG>TTC	p.L296F	ALS2CR12_uc002uya.3_Missense_Mutation_p.L296F|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	296	Potential.				regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GATGTTGTTTCAAGAGCTCCT	0.378		NaN											0	0	0	0.003954	0	23	66				
CDK15	65061	broad.mit.edu	37	2	202755540	202755540	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202755540C>T	uc002uyt.2	+	13	1262	c.1213C>T	c.(1213-1215)CTA>TTA	p.L405L	CDK15_uc002uys.2_Silent_p.L360L|CDK15_uc010ftn.1_Silent_p.L360L|CDK15_uc002uyu.1_RNA	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	411							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	AGGAGTGAGGCTAAAGCCAGA	0.443		NaN											0	0	0	0.010818	0	22	42				
PARD3B	117583	broad.mit.edu	37	2	206023472	206023472	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023472C>G	uc002var.1	+	11	1668	c.1461C>G	c.(1459-1461)CTC>CTG	p.L487L	PARD3B_uc010fub.1_Silent_p.L487L|PARD3B_uc002vao.1_Silent_p.L487L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L487L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	487					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTGTGCACTCTCTCTGGAGA	0.463		NaN											0	0	0	0.004289	0	32	113				
PARD3B	117583	broad.mit.edu	37	2	206023538	206023538	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023538C>A	uc002var.1	+	11	1734	c.1527C>A	c.(1525-1527)CTC>CTA	p.L509L	PARD3B_uc010fub.1_Silent_p.L509L|PARD3B_uc002vao.1_Silent_p.L509L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L509L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	509	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCTGGCCTCGGGGTGAGCT	0.488		NaN											1	0	9.04412e-07	0.004656	9.42749e-07	19	69				
PARD3B	117583	broad.mit.edu	37	2	206023564	206023564	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023564C>G	uc002var.1	+	11	1760	c.1553C>G	c.(1552-1554)TCC>TGC	p.S518C	PARD3B_uc010fub.1_Missense_Mutation_p.S518C|PARD3B_uc002vao.1_Missense_Mutation_p.S518C|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.S518C	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	518	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAACAAATCCAGAGAAACT	0.473		NaN											0	0	0	0.008871	0	13	60				
PARD3B	117583	broad.mit.edu	37	2	206023598	206023598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023598C>G	uc002var.1	+	11	1794	c.1587C>G	c.(1585-1587)ATC>ATG	p.I529M	PARD3B_uc010fub.1_Missense_Mutation_p.I529M|PARD3B_uc002vao.1_Missense_Mutation_p.I529M|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.I529M	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	529	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATTTTTATCAAATCCATCA	0.453		NaN											0	0	0	0.004007	0	8	51				
PTH2R	5746	broad.mit.edu	37	2	209358298	209358298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:209358298G>A	uc002vdb.2	+	13	1780	c.1567G>A	c.(1567-1569)GAT>AAT	p.D523N	PTH2R_uc010zjb.1_Missense_Mutation_p.D534N|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	523	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCAGGGAGATGATATTCTAAT	0.493		NaN											0	0	0	0.00333	0	26	55				
SPEG	10290	broad.mit.edu	37	2	220337739	220337739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:220337739C>G	uc010fwg.2	+	16	4068	c.4068C>G	c.(4066-4068)ATC>ATG	p.I1356M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1356	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCAGCACATCTTCCGGGTCC	0.667		NaN											0	0	0	0.00499	0	15	56				
SPHKAP	80309	broad.mit.edu	37	2	228855860	228855860	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228855860C>G	uc002vpq.2	-	11	4862	c.4815G>C	c.(4813-4815)CAG>CAC	p.Q1605H	SPHKAP_uc002vpp.2_Missense_Mutation_p.Q1576H|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1605						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGCTCCTCTGGGGGCTGG	0.577		NaN											0	0	0	0.013537	0	12	36				
SPHKAP	80309	broad.mit.edu	37	2	228882210	228882210	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228882210C>G	uc002vpq.2	-	7	3407	c.3360G>C	c.(3358-3360)TCG>TCC	p.S1120S	SPHKAP_uc002vpp.2_Silent_p.S1120S|SPHKAP_uc010zlx.1_Silent_p.S1120S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1120						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACAGCTCGACTGCTTGG	0.542		NaN											0	0	0	0.00308	0	7	24				
EIF4E2	9470	broad.mit.edu	37	2	233431865	233431865	+	Silent	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:233431865A>G	uc002vta.2	+	6	684	c.606A>G	c.(604-606)CGA>CGG	p.R202R	EIF4E2_uc002vtb.1_Silent_p.R202R|EIF4E2_uc010zmi.1_Silent_p.R157R	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	202					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACTTCGGCGAGTGCTTAACC	0.488		NaN											0	0	0	0.01441	0	49	146				
ZCCHC3	85364	broad.mit.edu	37	20	279262	279262	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:279262G>C	uc002wdf.2	+	2	1056	c.1032G>C	c.(1030-1032)ATG>ATC	p.M344I	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	345	CCHC-type 1.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCCACATGAGCGGCAGCT	0.637		NaN											0	0	0	0.003954	0	23	80				
C20orf7	79133	broad.mit.edu	37	20	13765904	13765904	+	Nonsense_Mutation	SNP	G	G	T	rs147117631		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:13765904G>T	uc002wom.2	+	1	223	c.190G>T	c.(190-192)GAG>TAG	p.E64*	ESF1_uc002woj.2_5'Flank|ESF1_uc002wok.1_5'Flank|C20orf7_uc002wol.1_Nonsense_Mutation_p.E64*|C20orf7_uc002won.2_Nonsense_Mutation_p.E64*|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	64					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				CCGGCAGCCCGAGCCGACCAA	0.473		NaN											1	0	0.004672	0.004672	0.00479611	3	18				
SEC23B	10483	broad.mit.edu	37	20	18508212	18508212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18508212C>G	uc002wqz.1	+	9	1509	c.1066C>G	c.(1066-1068)CAA>GAA	p.Q356E	SEC23B_uc002wra.1_Missense_Mutation_p.Q356E|SEC23B_uc002wrb.1_Missense_Mutation_p.Q356E|SEC23B_uc010zsb.1_Missense_Mutation_p.Q338E|SEC23B_uc002wrc.1_Missense_Mutation_p.Q356E	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	356					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						TGCCCTTGATCAAACTGGACT	0.408		NaN											0	0	0	0.01441	0	74	297				
SEC23B	10483	broad.mit.edu	37	20	18513307	18513307	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18513307G>C	uc002wqz.1	+	11	1677	c.1234_splice	c.e11-1	p.T412_splice	SEC23B_uc002wra.1_Splice_Site_p.T412_splice|SEC23B_uc002wrb.1_Splice_Site_p.T412_splice|SEC23B_uc010zsb.1_Splice_Site_p.T394_splice|SEC23B_uc002wrc.1_Splice_Site_p.T412_splice	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						ATTTGTTATAGACCTCTCGGG	0.413		NaN											0	0	0	0.012319	0	18	57				
C20orf185	359710	broad.mit.edu	37	20	31647285	31647285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:31647285C>G	uc002wym.1	+	3	383	c.383C>G	c.(382-384)TCC>TGC	p.S128C		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	128	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						ATGCATTGCTCTGGGTGAGTG	0.602		NaN											0	0	0	0.004672	0	3	7				
EPB41L1	2036	broad.mit.edu	37	20	34797558	34797558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:34797558C>G	uc002xfb.2	+	15	1988	c.1817C>G	c.(1816-1818)TCC>TGC	p.S606C	EPB41L1_uc002xeu.2_Missense_Mutation_p.S532C|EPB41L1_uc010zvo.1_Missense_Mutation_p.S606C|EPB41L1_uc002xev.2_Missense_Mutation_p.S606C|EPB41L1_uc002xew.2_Missense_Mutation_p.S497C|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.S532C|EPB41L1_uc010gfq.2_Missense_Mutation_p.S705C	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	606					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CGCAAGTGCTCCAGCATCACG	0.612		NaN											0	0	0	0.006122	0	17	42				
R3HDML	140902	broad.mit.edu	37	20	42969880	42969880	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:42969880C>T	uc002xls.1	+	2	478	c.306C>T	c.(304-306)ACC>ACT	p.T102T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	102						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCTGGGCCACCCAGTGCATCT	0.587		NaN											0	0	0	0.008361	0	25	54				
SLC9A8	23315	broad.mit.edu	37	20	48500483	48500483	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:48500483C>T	uc002xuv.1	+	14	1581	c.1371C>T	c.(1369-1371)CTC>CTT	p.L457L	SLC9A8_uc010zym.1_Silent_p.L157L|SLC9A8_uc010gic.2_Silent_p.L157L|SLC9A8_uc010gid.2_Silent_p.L81L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	457	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCATCGTGCTCTTCACCATCC	0.632		NaN											0	0	0	0.00632	0	26	120				
LAMA5	3911	broad.mit.edu	37	20	60897153	60897153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:60897153C>G	uc002ycq.2	-	48	6485	c.6418G>C	c.(6418-6420)GAG>CAG	p.E2140Q		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2140	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGCAGCGCTCCCCGCTGAGC	0.692		NaN											0	0	0	0.004482	0	9	19				
C20orf11	54994	broad.mit.edu	37	20	61574870	61574870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:61574870C>T	uc002ydy.2	+	4	516	c.339C>T	c.(337-339)ATC>ATT	p.I113I		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	113	CTLH.					nucleus	protein binding				0	Breast(26;5.68e-08)					TCGAGCTGATCCGCCAGCGGG	0.622		NaN											0	0	0	0.004007	0	15	44				
TIAM1	7074	broad.mit.edu	37	21	32519223	32519223	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519223G>T	uc002yow.1	-	21	3937	c.3465C>A	c.(3463-3465)GTC>GTA	p.V1155V	TIAM1_uc011adk.1_Silent_p.V1155V|TIAM1_uc011adl.1_Silent_p.V1095V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1155	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CTTTCACCAGGACCTTGGGAA	0.527		NaN											1	0	1.11149e-13	0.008291	1.18369e-13	9	28				
TIAM1	7074	broad.mit.edu	37	21	32519296	32519296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519296G>A	uc002yow.1	-	21	3864	c.3392C>T	c.(3391-3393)TCA>TTA	p.S1131L	TIAM1_uc011adk.1_Missense_Mutation_p.S1131L|TIAM1_uc011adl.1_Missense_Mutation_p.S1071L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1131	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ATACAGGAATGATCCCCCCAG	0.502		NaN											0	0	0	0.00499	0	15	34				
CRYZL1	9946	broad.mit.edu	37	21	34975814	34975814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:34975814C>T	uc011adw.1	-	7	541	c.361G>A	c.(361-363)GAA>AAA	p.E121K	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.E145K|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	121					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						CCTGCTGCTTCCGTCCATGTG	0.333		NaN											0	0	0	0.008871	0	15	63				
TTC3	7267	broad.mit.edu	37	21	38568048	38568048	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:38568048A>T	uc002yvz.2	+	42	5395	c.5290A>T	c.(5290-5292)ACT>TCT	p.T1764S	TTC3_uc002ywa.2_Missense_Mutation_p.T1764S|TTC3_uc002ywb.2_Missense_Mutation_p.T1764S|TTC3_uc010gnf.2_Missense_Mutation_p.T1529S|TTC3_uc002ywc.2_Missense_Mutation_p.T1454S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1764					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AAGCGACGTGACTGGAAACCA	0.587		NaN											0	0	0	0.007413	0	18	105				
PRDM15	63977	broad.mit.edu	37	21	43291624	43291624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:43291624G>A	uc002yzq.1	-	4	631	c.520C>T	c.(520-522)CGC>TGC	p.R174C	PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCAGGATTGCGTCGCAGGCCT	0.592		NaN											0	0	0	0.007291	0	24	61				
C21orf2	755	broad.mit.edu	37	21	45751736	45751736	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:45751736C>G	uc002zep.2	-	5	743	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	C21orf2_uc002zeo.1_Missense_Mutation_p.E138Q|C21orf2_uc002zeq.2_Missense_Mutation_p.E179Q|C21orf2_uc002zer.2_Missense_Mutation_p.E179Q	NM_004928	NP_004919	O43822	CU002_HUMAN	hypothetical protein LOC755	179											0				Colorectal(79;0.0806)		GTTGCCTCCTCCTCGCTGTCC	0.692		NaN											0	0	0	0.009096	0	3	12				
GAB4	128954	broad.mit.edu	37	22	17447110	17447110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:17447110G>A	uc002zlw.2	-	6	1276	c.1168C>T	c.(1168-1170)CTT>TTT	p.L390F	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	390										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGCGAACAAGACATGAGCCC	0.607		NaN											0	0	0	0.004007	0	15	76				
THAP7	80764	broad.mit.edu	37	22	21354959	21354959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:21354959G>T	uc002ztr.1	-	4	384	c.354C>A	c.(352-354)AGC>AGA	p.S118R	THAP7_uc002zts.1_Missense_Mutation_p.S118R|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	118					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCTGAGCCGGCTGACTTCAG	0.612		NaN											1	0	9.16793e-09	0.00499	9.64951e-09	17	251				
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:22842526C>T	uc002zwc.1	-	4	1974	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433		NaN											0	0	0	0.013114	0	42	236				
CYTSA	23384	broad.mit.edu	37	22	24761541	24761541	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:24761541G>A	uc002zzw.2	+	13	3232	c.2925G>A	c.(2923-2925)CAG>CAA	p.Q975Q	CYTSA_uc002zzv.3_Silent_p.Q975Q|CYTSA_uc011ajq.1_Silent_p.Q975Q	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	975					cell cycle|cell division						0						CGTCTCCACAGCTTTCCCTGT	0.512		NaN											0	0	0	0.00874	0	35	162				
PISD	23761	broad.mit.edu	37	22	32017073	32017073	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32017073G>C	uc003alm.3	-	6	760	c.753C>G	c.(751-753)CTC>CTG	p.L251L	PISD_uc003alk.2_Silent_p.L217L|PISD_uc003all.2_Silent_p.L216L|PISD_uc011alr.1_Silent_p.L216L|PISD_uc003aln.3_Silent_p.L251L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	251					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	CACAGTGATAGAGCTCATTCC	0.627		NaN									OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.00632	0	24	77				
SLC5A4	6527	broad.mit.edu	37	22	32626965	32626965	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32626965C>G	uc003ami.2	-	10	1121	c.1119G>C	c.(1117-1119)CTG>CTC	p.L373L		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	373	Extracellular (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CTTGGGGCATCAGTTCCAGCA	0.537		NaN											0	0	0	0.006122	0	14	44				
RASD2	23551	broad.mit.edu	37	22	35947615	35947615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:35947615C>T	uc003anx.2	+	3	542	c.337C>T	c.(337-339)CAG>TAG	p.Q113*	RASD2_uc003any.2_Nonsense_Mutation_p.Q113*	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	113					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CAAGCGCCTTCAGAAGCAGAT	0.582		NaN											0	0	0	0.004656	0	26	42				
POLDIP3	84271	broad.mit.edu	37	22	42998059	42998059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:42998059G>A	uc003bcu.2	-	3	553	c.454C>T	c.(454-456)CCA>TCA	p.P152S	POLDIP3_uc011app.1_Missense_Mutation_p.P73S|POLDIP3_uc003bcv.2_Intron|POLDIP3_uc011apq.1_Missense_Mutation_p.P169S|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_Intron|POLDIP3_uc010gzb.1_Intron	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	152					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TTCTGCTGTGGAACCTGGAAA	0.507		NaN											0	0	0	0.01441	0	44	71				
ATP2B2	491	broad.mit.edu	37	3	10379906	10379906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:10379906C>T	uc003bvt.2	-	22	3813	c.3374G>A	c.(3373-3375)CGG>CAG	p.R1125Q	ATP2B2_uc003bvv.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvs.2_5'Flank|ATP2B2_uc010hdo.2_Missense_Mutation_p.R830Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1125	Calmodulin-binding subdomain A (By similarity).|Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GATCTGGCCCCGCCGCAGCTC	0.682		NaN											0	0	0	0.00245	0	12	233				
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:21706481C>T	uc003cce.2	-	2	470	c.62G>A	c.(61-63)CGT>CAT	p.R21H	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GGCTGGTGGACGGACAAGGGC	0.517		NaN											0	0	0	0.004007	0	15	45				
VILL	50853	broad.mit.edu	37	3	38042961	38042961	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38042961G>A	uc003chj.2	+	12	1483	c.1197G>A	c.(1195-1197)CAG>CAA	p.Q399Q	VILL_uc003chl.2_Silent_p.Q399Q|VILL_uc010hgu.2_Silent_p.Q229Q	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	399					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTGCATCCAGGACTTACACA	0.602		NaN											0	0	0	0.013537	0	12	79				
VILL	50853	broad.mit.edu	37	3	38043072	38043072	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043072G>T	uc003chj.2	+	12	1594	c.1308G>T	c.(1306-1308)CTG>CTT	p.L436L	VILL_uc003chl.2_Silent_p.L436L|VILL_uc010hgu.2_Silent_p.L266L	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	436	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGTACATCCTGTACCTATGGC	0.607		NaN											1	0	1.33834e-09	0.007413	1.41414e-09	16	96				
VILL	50853	broad.mit.edu	37	3	38043288	38043288	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043288G>A	uc003chj.2	+	13	1702	c.1416G>A	c.(1414-1416)GTG>GTA	p.V472V	VILL_uc003chl.2_Silent_p.V472V|VILL_uc010hgu.2_Silent_p.V302V	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	472					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGAGCATGTGACCATGGGCA	0.607		NaN											0	0	0	0.013537	0	10	68				
WDR48	57599	broad.mit.edu	37	3	39135477	39135477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135477G>A	uc003cit.2	+	18	1868	c.1858G>A	c.(1858-1860)GAA>AAA	p.E620K	WDR48_uc011ayt.1_Missense_Mutation_p.E611K|WDR48_uc011ayu.1_Missense_Mutation_p.E538K|WDR48_uc011ayv.1_Missense_Mutation_p.E345K|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	620					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTAATAATGAAAAACCAGG	0.383		NaN											0	0	0	0.008291	0	9	23				
WDR48	57599	broad.mit.edu	37	3	39135489	39135489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135489G>A	uc003cit.2	+	18	1880	c.1870G>A	c.(1870-1872)GAA>AAA	p.E624K	WDR48_uc011ayt.1_Missense_Mutation_p.E615K|WDR48_uc011ayu.1_Missense_Mutation_p.E542K|WDR48_uc011ayv.1_Missense_Mutation_p.E349K|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	624					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAACCAGGAGAACAGGAAAA	0.388		NaN											0	0	0	0.006214	0	9	25				
CCR8	1237	broad.mit.edu	37	3	39374203	39374203	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374203G>A	uc010hhr.2	+	2	519	c.381G>A	c.(379-381)ATG>ATA	p.M127I	CCR8_uc003cjm.2_Missense_Mutation_p.M44I	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	127	Helical; Name=3; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCACCCTCATGAGTGTGGACA	0.512		NaN											0	0	0	0.01441	0	75	200				
CCR8	1237	broad.mit.edu	37	3	39374254	39374254	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374254G>A	uc010hhr.2	+	2	570	c.432G>A	c.(430-432)GTG>GTA	p.V144V	CCR8_uc003cjm.2_Silent_p.V61V	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	144	Cytoplasmic (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCTAAAGGTGAGGACGATCA	0.502		NaN											0	0	0	0.01441	0	65	197				
TRAK1	22906	broad.mit.edu	37	3	42242499	42242499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42242499C>A	uc003cky.2	+	12	1596	c.1380C>A	c.(1378-1380)GAC>GAA	p.D460E	TRAK1_uc011azh.1_Missense_Mutation_p.D460E|TRAK1_uc011azi.1_Missense_Mutation_p.D460E|TRAK1_uc003ckz.3_Missense_Mutation_p.D386E|TRAK1_uc011azj.1_Missense_Mutation_p.D386E|TRAK1_uc003cla.2_Missense_Mutation_p.D402E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	460	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TCGTCCTCGACAACAAGACCA	0.577		NaN											1	0	3.00307e-07	0.008361	3.14247e-07	29	86				
NKTR	4820	broad.mit.edu	37	3	42679601	42679601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42679601G>C	uc003clo.2	+	13	2552	c.2405G>C	c.(2404-2406)AGA>ACA	p.R802T	NKTR_uc003clm.1_Missense_Mutation_p.R549T|NKTR_uc003clp.2_Missense_Mutation_p.R549T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R692T|NKTR_uc003clr.1_Missense_Mutation_p.R549T|NKTR_uc003cls.2_Missense_Mutation_p.R502T	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	802	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGCGAGAGCAGATCATCTTTA	0.423		NaN											0	0	0	0.004878	0	36	84				
C3orf39	84892	broad.mit.edu	37	3	43121671	43121671	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:43121671T>C	uc003cmq.1	-	2	1394	c.1253A>G	c.(1252-1254)GAC>GGC	p.D418G	C3orf39_uc003cmr.1_Missense_Mutation_p.D418G	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	418						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTCAGCCCGGTCCAGATGGGT	0.612		NaN											0	0	0	0.00308	0	6	24				
ZDHHC3	51304	broad.mit.edu	37	3	44968315	44968315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:44968315C>T	uc003cod.2	-	8	1124	c.850G>A	c.(850-852)GAG>AAG	p.E284K	ZDHHC3_uc003cog.2_Missense_Mutation_p.E256K|ZDHHC3_uc011bad.1_Intron	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	284	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATCTTCTCTCTTCCTTTTTC	0.478		NaN											0	0	0	0.008291	0	9	52				
DNAH1	25981	broad.mit.edu	37	3	52429361	52429361	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52429361C>G	uc011bef.1	+	69	11267	c.11006C>G	c.(11005-11007)TCC>TGC	p.S3669C	DNAH1_uc003ddv.2_Missense_Mutation_p.S527C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3734	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTCCAACTCCACCACACCC	0.567		NaN											0	0	0	0.00499	0	12	44				
PBRM1	55193	broad.mit.edu	37	3	52651349	52651349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52651349C>T	uc003des.2	-	14	1759	c.1747G>A	c.(1747-1749)GAA>AAA	p.E583K	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E583K|PBRM1_uc003der.2_Missense_Mutation_p.E551K|PBRM1_uc003det.2_Missense_Mutation_p.E598K|PBRM1_uc003deu.2_Missense_Mutation_p.E598K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E583K|PBRM1_uc010hmk.1_Missense_Mutation_p.E583K|PBRM1_uc003dey.2_Missense_Mutation_p.E583K|PBRM1_uc003dez.1_Missense_Mutation_p.E583K|PBRM1_uc003dfb.1_Missense_Mutation_p.E496K|PBRM1_uc003dfc.2_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	583	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTCCCTCTTCACCAGCATAT	0.443		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.004656	0	25	44				
FEZF2	55079	broad.mit.edu	37	3	62355901	62355901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:62355901C>G	uc003dlh.2	-	4	1444	c.1237G>C	c.(1237-1239)GAC>CAC	p.D413H	FEZF2_uc003dli.2_Missense_Mutation_p.D413H	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	413					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCTTCTTGTCGTTGTGGGTG	0.522		NaN											0	0	0	0.006999	0	36	131				
ADAMTS9	56999	broad.mit.edu	37	3	64507920	64507920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:64507920A>G	uc003dmg.2	-	39	5767	c.5735T>C	c.(5734-5736)GTA>GCA	p.V1912A	ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1884A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V823A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1912	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCATTTCCCTACGACTCGGGT	0.488		NaN											0	0	0	0.00632	0	23	84				
RYBP	23429	broad.mit.edu	37	3	72428484	72428484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:72428484C>G	uc003dpe.2	-	2	340	c.223G>C	c.(223-225)GAA>CAA	p.E75Q		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	85	Lys-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418		NaN											0	0	0	0.006122	0	16	79				
CADM2	253559	broad.mit.edu	37	3	86010672	86010672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:86010672G>A	uc003dqj.2	+	7	1444	c.818G>A	c.(817-819)CGA>CAA	p.R273Q	CADM2_uc003dqk.2_Missense_Mutation_p.R282Q|CADM2_uc003dql.2_Missense_Mutation_p.R275Q	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	273	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATCCTGACCGAATGGTTGTG	0.413		NaN											0	0	0	0.01441	0	44	149				
ST3GAL6	10402	broad.mit.edu	37	3	98489793	98489793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:98489793C>G	uc003dsz.2	+	3	396	c.160C>G	c.(160-162)CTG>GTG	p.L54V	ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.L54V|ST3GAL6_uc010hpd.2_Missense_Mutation_p.L107V	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	54	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						TTTTGCCTCTCTGCTGAGGTA	0.353		NaN											0	0	0	0.00308	0	7	41				
KPNA1	3836	broad.mit.edu	37	3	122152626	122152626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:122152626C>T	uc003efd.1	-	12	1168	c.1132G>A	c.(1132-1134)GAT>AAT	p.D378N	KPNA1_uc003efb.1_Missense_Mutation_p.D177N|KPNA1_uc003efc.1_Missense_Mutation_p.D177N|KPNA1_uc011bjr.1_Missense_Mutation_p.D177N|KPNA1_uc010hrh.2_Missense_Mutation_p.D177N|KPNA1_uc003efe.2_Missense_Mutation_p.D378N	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	378	ARM 8.|Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGGCATCTATCACAGTC	0.323		NaN											0	0	0	0.001168	0	5	31				
KALRN	8997	broad.mit.edu	37	3	124356151	124356151	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:124356151G>A	uc003ehg.2	+	37	5788	c.5661_splice	c.e37+1	p.L1887_splice	KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Splice_Site_p.L190_splice|KALRN_uc011bjz.1_Splice_Site|KALRN_uc003ehj.2_Intron	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AAACAAGCTGGTAAGTGGGGG	0.522		NaN											0	0	0	0.008291	0	8	66				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.001855	0	5	28				
BFSP2	8419	broad.mit.edu	37	3	133166243	133166243	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133166243G>A	uc003epn.1	+	2	710	c.572G>A	c.(571-573)AGA>AAA	p.R191K	uc003epo.2_Intron	NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	191	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						TTTAAAGAGAGGTAATGTCTT	0.522		NaN											0	0	0	0.003163	0	13	22				
TOPBP1	11073	broad.mit.edu	37	3	133374177	133374177	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133374177C>T	uc003eps.2	-	6	831	c.699G>A	c.(697-699)TTG>TTA	p.L233L		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	233	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CATTCATTTTCAATTGTCCCA	0.363		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006999	0	34	77				
TXNDC6	347736	broad.mit.edu	37	3	138024920	138024920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:138024920C>G	uc003esg.2	-	8	590	c.562G>C	c.(562-564)GAA>CAA	p.E188Q	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E103Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E127Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	188	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						GTTAGAATTTCAAACCCAGCT	0.353		NaN											0	0	0	0.013537	0	11	66				
MRPS22	56945	broad.mit.edu	37	3	139062950	139062950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139062950C>G	uc003etb.2	+	1	90	c.82C>G	c.(82-84)CGA>GGA	p.R28G	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R28G|MRPS22_uc003ete.2_5'Flank	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	28						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						TTTCCGGGCTCGAATCCAGCC	0.617		NaN											0	0	0	0.009096	0	4	22				
COPB2	9276	broad.mit.edu	37	3	139087069	139087069	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139087069A>G	uc003etf.3	-	13	1593	c.1463T>C	c.(1462-1464)CTT>CCT	p.L488P	COPB2_uc011bmv.1_Missense_Mutation_p.L459P|COPB2_uc010hui.2_Missense_Mutation_p.L459P	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	488					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						CAGATACTTAAGGATAAAAAA	0.393		NaN											0	0	0	0.006214	0	9	52				
MME	4311	broad.mit.edu	37	3	154855989	154855989	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:154855989G>C	uc010hvr.1	+	9	1030	c.819G>C	c.(817-819)ATG>ATC	p.M273I	MME_uc003fab.1_Missense_Mutation_p.M273I|MME_uc003fac.1_Missense_Mutation_p.M273I|MME_uc003fad.1_Missense_Mutation_p.M273I|MME_uc003fae.1_Missense_Mutation_p.M273I	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	273	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTTTGGAAATGAATAAAGTTA	0.358		NaN											0	0	0	0.001855	0	14	73				
ZBBX	79740	broad.mit.edu	37	3	167016138	167016138	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:167016138G>T	uc003fep.2	-	18	2157	c.1834C>A	c.(1834-1836)CAT>AAT	p.H612N	ZBBX_uc011bpc.1_Missense_Mutation_p.H612N|ZBBX_uc003feq.2_Missense_Mutation_p.H583N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	612						intracellular	zinc ion binding			ovary(2)	2						TCTAAACGATGAGAAGGAAGT	0.333		NaN											1	0	1.52009e-12	0.003163	1.61566e-12	14	66				
LRRC31	79782	broad.mit.edu	37	3	169557820	169557820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:169557820C>G	uc003fgc.1	-	9	1686	c.1609G>C	c.(1609-1611)GAC>CAC	p.D537H	LRRC31_uc010hwp.1_Missense_Mutation_p.D481H	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	537										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTATCTTGGTCAAAGCATTCT	0.403		NaN											0	0	0	0.012319	0	20	51				
ATP11B	23200	broad.mit.edu	37	3	182566341	182566341	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:182566341G>C	uc003flb.2	+	10	1104	c.847G>C	c.(847-849)GAA>CAA	p.E283Q		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	283	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCTGCAGTAGAAAAGTAAGA	0.249		NaN											0	0	0	0.001855	0	13	35				
PSMD2	5708	broad.mit.edu	37	3	184026528	184026528	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:184026528G>A	uc003fnn.1	+	21	2610	c.2577G>A	c.(2575-2577)CCG>CCA	p.P859P	PSMD2_uc011brj.1_Silent_p.P700P|PSMD2_uc011brk.1_Silent_p.P729P	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	859					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGGCAAGCCGAAGACTATCA	0.547		NaN									OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006999	0	35	53				
TCTEX1D2	255758	broad.mit.edu	37	3	196044975	196044975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:196044975C>T	uc003fwi.2	-	1	185	c.49G>A	c.(49-51)GAG>AAG	p.E17K	TM4SF19_uc003fwj.2_Intron|uc003fwk.1_5'Flank	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	17							protein binding			ovary(1)|breast(1)	2	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTCAGCCTCAGGCACCCCG	0.662		NaN											0	0	0	0.009096	0	3	10				
PIGG	54872	broad.mit.edu	37	4	499705	499705	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:499705G>C	uc003gak.3	+	3	695	c.559G>C	c.(559-561)GAT>CAT	p.D187H	PIGG_uc003gaj.3_Missense_Mutation_p.D187H|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.D98H|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.D65H|PIGG_uc003gam.2_Missense_Mutation_p.D98H|PIGG_uc003gan.2_Missense_Mutation_p.D98H	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	187	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TTTCGTGTCAGATTACACAGA	0.338		NaN											0	0	0	0.014758	0	5	29				
CC2D2A	57545	broad.mit.edu	37	4	15601285	15601285	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:15601285G>C	uc010idv.2	+	37	4875	c.4630G>C	c.(4630-4632)GAT>CAT	p.D1544H	CC2D2A_uc003gnx.2_Missense_Mutation_p.D1436H|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1544					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						AGATGTAGAAGATGACCACAG	0.443		NaN											0	0	0	0.00499	0	16	22				
LDB2	9079	broad.mit.edu	37	4	16597454	16597454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:16597454C>G	uc003goz.2	-	3	596	c.280G>C	c.(280-282)GAA>CAA	p.E94Q	LDB2_uc003gpa.2_Missense_Mutation_p.E94Q|LDB2_uc003gpb.2_Missense_Mutation_p.E94Q|LDB2_uc011bxh.1_Missense_Mutation_p.E94Q|LDB2_uc010iee.2_Missense_Mutation_p.E94Q|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	94							LIM domain binding|transcription cofactor activity				0						ACCCCTCCTTCAAACACAGTG	0.493		NaN											0	0	0	0.01441	0	53	40				
ARAP2	116984	broad.mit.edu	37	4	36152544	36152544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:36152544C>G	uc003gsq.1	-	16	3213	c.2875G>C	c.(2875-2877)GAG>CAG	p.E959Q		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	959	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAGAAGTCCTCTTTGTGTATA	0.343		NaN											0	0	0	0.01441	0	58	117				
GABRG1	2565	broad.mit.edu	37	4	46060594	46060594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:46060594G>A	uc003gxb.2	-	6	823	c.671C>T	c.(670-672)TCC>TTC	p.S224F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	224	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CACTTCTACGGAGGGCTTTTT	0.358		NaN											0	0	0	0.001168	0	5	27				
KIAA1211	57482	broad.mit.edu	37	4	57181751	57181751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57181751G>A	uc003hbk.2	+	8	2474	c.2083G>A	c.(2083-2085)GAT>AAT	p.D695N	KIAA1211_uc010iha.2_Missense_Mutation_p.D688N|KIAA1211_uc011bzz.1_Missense_Mutation_p.D605N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D581N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	695										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GAGGCCCGGTGATGAGTCCAC	0.592		NaN											0	0	0	0.00632	0	22	97				
SRP72	6731	broad.mit.edu	37	4	57367868	57367868	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57367868G>C	uc003hbv.2	+	19	1897	c.1857G>C	c.(1855-1857)GTG>GTC	p.V619V	SRP72_uc010ihe.2_Silent_p.V558V|SRP72_uc003hbx.2_RNA	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	619					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					GTAAAACTGTGAGCAGCCCAC	0.453		NaN											0	0	0	0.014758	0	5	36				
PTPN13	5783	broad.mit.edu	37	4	87694009	87694009	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:87694009G>A	uc003hpz.2	+	32	5727	c.5247G>A	c.(5245-5247)TCG>TCA	p.S1749S	PTPN13_uc003hpy.2_Silent_p.S1754S|PTPN13_uc003hqa.2_Silent_p.S1730S|PTPN13_uc003hqb.2_Silent_p.S1558S|PTPN13_uc003hqc.1_Silent_p.S115S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1749	Poly-Ser.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTCTAGTTCGATGGATAAGT	0.408		NaN											0	0	0	0.00499	0	18	98				
ADH6	130	broad.mit.edu	37	4	100129920	100129920	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:100129920G>C	uc003hup.3	-	6	827	c.733C>G	c.(733-735)CAG>GAG	p.Q245E	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.Q245E|ADH6_uc011cef.1_Missense_Mutation_p.Q36E|ADH6_uc010ile.2_Missense_Mutation_p.Q245E	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	245					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTTAAGTCCTGAGGGTTGAGG	0.438		NaN											0	0	0	0.01441	0	53	257				
NDST4	64579	broad.mit.edu	37	4	115760536	115760536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:115760536G>C	uc003ibu.2	-	11	2963	c.2284C>G	c.(2284-2286)CAG>GAG	p.Q762E	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	762	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACATTACCTGAGAAGTAGCA	0.328		NaN											0	0	0	0.010818	0	29	63				
IL21	59067	broad.mit.edu	37	4	123542141	123542141	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:123542141T>A	uc003ies.2	-	1	71	c.26A>T	c.(25-27)GAG>GTG	p.E9V	uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.E2V	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	2					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0						GACAATCCTCTCCATGTTGCC	0.463		NaN											0	0	0	0.00499	0	14	95				
MFSD8	256471	broad.mit.edu	37	4	128851881	128851881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:128851881C>T	uc003ifp.2	-	10	1118	c.955G>A	c.(955-957)GAA>AAA	p.E319K	MFSD8_uc011cgu.1_Missense_Mutation_p.E274K|MFSD8_uc011cgv.1_Missense_Mutation_p.E281K|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	319	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						ACAACGGCTTCAACCCCAAGA	0.318		NaN											0	0	0	0.01441	0	49	124				
PCDH18	54510	broad.mit.edu	37	4	138451064	138451064	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:138451064C>T	uc003ihe.3	-	1	2566	c.2179G>A	c.(2179-2181)GAG>AAG	p.E727K	PCDH18_uc003ihf.3_Missense_Mutation_p.E720K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507K|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	727	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCTTTCTTCTCGCGGTTACAC	0.458		NaN											0	0	0	0.006122	0	18	45				
FBXW7	55294	broad.mit.edu	37	4	153244235	153244235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:153244235G>C	uc003ims.2	-	12	2071	c.1922C>G	c.(1921-1923)TCA>TGA	p.S641*	FBXW7_uc011cii.1_Nonsense_Mutation_p.S641*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S641*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S465*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S561*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S523*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	641	WD 7.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCATCATCTGAGCTGGTAAT	0.428		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.006214	0	10	72		Valid		
FGA	2243	broad.mit.edu	37	4	155507290	155507290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:155507290C>T	uc003iod.1	-	5	1349	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	FGA_uc003ioe.1_Missense_Mutation_p.E431K|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	431	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGTTTTTCTGTGTGGTAC	0.507		NaN											0	0	0	0.006999	0	37	106				
PALLD	23022	broad.mit.edu	37	4	169433557	169433557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:169433557G>A	uc011cjx.1	+	2	1113	c.902G>A	c.(901-903)CGA>CAA	p.R301Q	PALLD_uc003iru.2_Missense_Mutation_p.R301Q	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	301	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCACTCCTCGAGTCAGGTAT	0.443		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.013537	0	12	20				
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:174254744G>A	uc011ckc.1	-	1	177	c.57C>T	c.(55-57)TTC>TTT	p.F19F	HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	19	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582		NaN											0	0	0	0.013726	0	33	53				
FRG1	2483	broad.mit.edu	37	4	190884260	190884260	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:190884260G>A	uc003izs.2	+	9	944	c.753G>A	c.(751-753)TTG>TTA	p.L251L		NM_004477	NP_004468	Q14331	FRG1_HUMAN	FSHD region gene 1	251	Bipartite nuclear localization signal (Potential).				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus					0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAGCCAAATTGAAAGCCGACA	0.299		NaN											0	0	0	0.006214	0	8	29				
CEP72	55722	broad.mit.edu	37	5	637673	637673	+	Missense_Mutation	SNP	G	G	C	rs150376362	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:637673G>C	uc003jbf.2	+	7	1018	c.946G>C	c.(946-948)GAT>CAT	p.D316H	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	316					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TCAGAAGTTGGATTTGTCAGG	0.547		NaN											0	0	0	0.012319	0	20	55				
TERT	7015	broad.mit.edu	37	5	1268641	1268641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:1268641C>T	uc003jcb.1	-	9	2634	c.2576G>A	c.(2575-2577)CGG>CAG	p.R859Q	TERT_uc003jbz.1_Missense_Mutation_p.R55Q|TERT_uc003jca.1_Missense_Mutation_p.R847Q|TERT_uc003jcc.1_Missense_Mutation_p.R859Q|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	859	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCACCCGTCCCGCCGAATCCC	0.597		NaN							TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				0	0	0	0.001168	0	5	49				
DNAH5	1767	broad.mit.edu	37	5	13823435	13823435	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:13823435G>C	uc003jfd.2	-	40	6666	c.6624C>G	c.(6622-6624)CTC>CTG	p.L2208L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2208					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TATTTGGAAAGAGATCTTCAA	0.383		NaN							Kartagener_syndrome				0	0	0	0.010729	0	10	122				
CDH18	1016	broad.mit.edu	37	5	19591215	19591215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:19591215G>A	uc003jgc.2	-	6	1327	c.950C>T	c.(949-951)TCA>TTA	p.S317L	CDH18_uc003jgd.2_Missense_Mutation_p.S317L|CDH18_uc011cnm.1_Missense_Mutation_p.S317L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	317	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGGAGATTGAGAATATTCC	0.408		NaN											0	0	0	0.008291	0	10	129				
HMGCS1	3157	broad.mit.edu	37	5	43298164	43298164	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:43298164A>G	uc003jnr.3	-	4	728	c.521T>C	c.(520-522)GTT>GCT	p.V174A	HMGCS1_uc003jnq.3_Missense_Mutation_p.V174A	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	174					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TACTGCTCCAACTCCACCTGT	0.398		NaN											0	0	0	0.007291	0	24	95				
MAN2A1	4124	broad.mit.edu	37	5	109191017	109191017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:109191017G>C	uc003kou.1	+	20	4116	c.3153G>C	c.(3151-3153)TTG>TTC	p.L1051F		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1051	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGTTAATTTGAGAACAATAC	0.338		NaN											0	0	0	0.00499	0	14	24				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139781720	139781720	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139781720C>T	uc003lfs.1	+	1	292	c.168C>T	c.(166-168)GTC>GTT	p.V56V	ANKHD1_uc003lfq.1_Silent_p.V56V|ANKHD1_uc003lfr.2_Silent_p.V56V|uc003lfn.2_5'Flank|ANKHD1_uc003lfp.2_Silent_p.V56V|ANKHD1_uc003lfo.2_Silent_p.V56V|ANKHD1_uc010jfk.2_Silent_p.V56V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	56						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGGAGTcggcagcagcg	0.622		NaN											0	0	0	0.004672	0	3	6				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905682	139905682	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139905682A>G	uc003lfs.1	+	26	4718	c.4594A>G	c.(4594-4596)AGG>GGG	p.R1532G	ANKHD1_uc003lfr.2_Missense_Mutation_p.R1532G|ANKHD1_uc003lfu.1_Missense_Mutation_p.R1012G|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R271G|ANKHD1_uc003lfw.2_Missense_Mutation_p.R170G|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1532						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGT	0.423		NaN											0	0	0	0.004672	0	3	104				
MGAT1	4245	broad.mit.edu	37	5	180219305	180219305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219305G>A	uc003mmg.3	-	2	1162	c.667C>T	c.(667-669)CGG>TGG	p.R223W	MGAT1_uc010jlf.2_Missense_Mutation_p.R223W|MGAT1_uc010jlg.2_Missense_Mutation_p.R223W|MGAT1_uc003mmh.3_Missense_Mutation_p.R223W|MGAT1_uc010jlh.2_Missense_Mutation_p.R223W|MGAT1_uc003mmi.3_Missense_Mutation_p.R223W	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	223	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGTGGCCCGAAAGTACTCG	0.667		NaN											0	0	0	0.012319	0	22	36				
MGAT1	4245	broad.mit.edu	37	5	180219511	180219511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219511G>C	uc003mmg.3	-	2	956	c.461C>G	c.(460-462)TCC>TGC	p.S154C	MGAT1_uc010jlf.2_Missense_Mutation_p.S154C|MGAT1_uc010jlg.2_Missense_Mutation_p.S154C|MGAT1_uc003mmh.3_Missense_Mutation_p.S154C|MGAT1_uc010jlh.2_Missense_Mutation_p.S154C|MGAT1_uc003mmi.3_Missense_Mutation_p.S154C	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	154	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCCGTAGGAGGCGATGGC	0.662		NaN											0	0	0	0.004656	0	23	33				
DTNBP1	84062	broad.mit.edu	37	6	15627595	15627595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:15627595C>T	uc003nbm.2	-	5	505	c.334G>A	c.(334-336)GAA>AAA	p.E112K	DTNBP1_uc003nbl.2_Missense_Mutation_p.E31K|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.E112K|DTNBP1_uc010jph.2_Missense_Mutation_p.E99K	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	112	Potential.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCATGGATTCTAAGTCTGCG	0.453		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.003163	0	14	55				
KIF13A	63971	broad.mit.edu	37	6	17850667	17850667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:17850667C>T	uc003ncg.3	-	8	709	c.604G>A	c.(604-606)GAG>AAG	p.E202K	KIF13A_uc003ncf.2_Missense_Mutation_p.E202K|KIF13A_uc003nch.3_Missense_Mutation_p.E202K|KIF13A_uc003nci.3_Missense_Mutation_p.E202K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	202	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTTCCCTCAGACATCAAT	0.413		NaN											0	0	0	0.001168	0	6	8				
E2F3	1871	broad.mit.edu	37	6	20490417	20490417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:20490417C>G	uc003nda.2	+	7	1481	c.1154C>G	c.(1153-1155)TCA>TGA	p.S385*		NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	385					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCAACCAACTCAGGACATAGC	0.398		NaN											0	0	0	0.007413	0	15	97				
TDP2	51567	broad.mit.edu	37	6	24666972	24666972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:24666972G>A	uc003nej.2	-	1	144	c.119C>T	c.(118-120)GCC>GTC	p.A40V	TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.A40V|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	40					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						AGCCACTGCGGCATCGCAGCT	0.632		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.001984	0	5	242				
BTN3A3	10384	broad.mit.edu	37	6	26444194	26444194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444194C>G	uc003nhz.2	+	4	275	c.95C>G	c.(94-96)TCT>TGT	p.S32C	BTN3A3_uc003nia.2_5'UTR|BTN3A3_uc011dkn.1_5'UTR	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	32	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0						GCTCAGTTTTCTGTGCTTGGA	0.577		NaN											0	0	0	0.00499	0	15	44				
BTN3A3	10384	broad.mit.edu	37	6	26444498	26444498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444498C>G	uc003nhz.2	+	4	579	c.399C>G	c.(397-399)TTC>TTG	p.F133L	BTN3A3_uc003nia.2_Missense_Mutation_p.F91L|BTN3A3_uc011dkn.1_Missense_Mutation_p.F91L	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	133	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0						ATGGTGACTTCTACGAAAAAG	0.507		NaN											0	0	0	0.007835	0	37	97				
BTN1A1	696	broad.mit.edu	37	6	26508197	26508197	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26508197C>T	uc003nif.3	+	5	899	c.879C>T	c.(877-879)CTC>CTT	p.L293L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	293	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						TGGAAGAACTCAGTAAGTTCT	0.383		NaN											0	0	0	0.014323	0	17	91				
NOTCH4	4855	broad.mit.edu	37	6	32164149	32164149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:32164149G>A	uc003obb.2	-	29	5389	c.5250C>T	c.(5248-5250)GCC>GCT	p.A1750A	GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Intron|NOTCH4_uc003oba.2_Silent_p.A410A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Silent_p.A159A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1750	Cytoplasmic (Potential).|ANK 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GAAGCGAGCGGGCGGCTCGGG	0.632		NaN											0	0	0	0.01441	0	36	93				
TTBK1	84630	broad.mit.edu	37	6	43251283	43251283	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:43251283G>A	uc003ouq.1	+	14	3084	c.2805G>A	c.(2803-2805)GAG>GAA	p.E935E		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	935						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACATTGCGGAGAAAACCCACC	0.632		NaN											0	0	0	0.003755	0	31	73				
TDRD6	221400	broad.mit.edu	37	6	46660831	46660831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660831G>A	uc003oyj.2	+	1	4966	c.4966G>A	c.(4966-4968)GAA>AAA	p.E1656K	TDRD6_uc010jze.2_Missense_Mutation_p.E1650K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1656					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTATTTCTATGAAATAATAAC	0.363		NaN											0	0	0	0.001855	0	12	46				
TDRD6	221400	broad.mit.edu	37	6	46660877	46660877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660877G>A	uc003oyj.2	+	1	5012	c.5012G>A	c.(5011-5013)AGA>AAA	p.R1671K	TDRD6_uc010jze.2_Missense_Mutation_p.R1665K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1671					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTAGAAATCAGAAGGGATGTT	0.303		NaN											0	0	0	0.013537	0	11	38				
PKHD1	5314	broad.mit.edu	37	6	51889923	51889923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:51889923G>A	uc003pah.1	-	32	4961	c.4685C>T	c.(4684-4686)TCT>TTT	p.S1562F	PKHD1_uc003pai.2_Missense_Mutation_p.S1562F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1562	Extracellular (Potential).|IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AACATTACCAGAACAAGCATA	0.428		NaN											0	0	0	0.004007	0	17	31				
ELOVL5	60481	broad.mit.edu	37	6	53138102	53138102	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:53138102G>A	uc003pbq.1	-	6	985	c.537C>T	c.(535-537)CTC>CTT	p.L179L	ELOVL5_uc003pbr.1_Silent_p.L179L|ELOVL5_uc011dwx.1_Silent_p.L206L|ELOVL5_uc003pbs.1_Intron|ELOVL5_uc003pbt.3_5'Flank	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	179	Helical; (Potential).			YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)					AAGAGTACATGAGGACGTGGA	0.473		NaN											0	0	0	0.01441	0	50	101				
SNX14	57231	broad.mit.edu	37	6	86253327	86253327	+	Silent	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:86253327T>C	uc003pkr.2	-	13	1453	c.1260A>G	c.(1258-1260)CAA>CAG	p.Q420Q	SNX14_uc003pkp.2_Silent_p.Q283Q|SNX14_uc003pkq.2_Silent_p.Q35Q|SNX14_uc011dzg.1_Silent_p.Q368Q|SNX14_uc003pks.2_Silent_p.Q376Q|SNX14_uc003pkt.2_Silent_p.Q420Q	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	420	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTACTTCTTTGAATCTCTT	0.318		NaN											0	0	0	0.004672	0	3	8				
C6orf203	51250	broad.mit.edu	37	6	107365503	107365503	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107365503G>A	uc003prq.2	+	3	591	c.510G>A	c.(508-510)CTG>CTA	p.L170L	C6orf203_uc011eaj.1_Silent_p.L175L|C6orf203_uc010kde.2_Silent_p.L170L	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	hypothetical protein LOC51250 isoform a	170											0	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AACTCAGGCTGAATGAGGAAA	0.289		NaN											0	0	0	0.012213	0	28	53				
PDSS2	57107	broad.mit.edu	37	6	107780313	107780313	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107780313G>A	uc003prt.2	-	1	467	c.177C>T	c.(175-177)ATC>ATT	p.I59I	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.I59I|PDSS2_uc003pru.2_Silent_p.I59I|PDSS2_uc003prv.2_Silent_p.I59I	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	59					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGTACCCCACGATCTTCTCCG	0.637		NaN									OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	38				
MICAL1	64780	broad.mit.edu	37	6	109768352	109768352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:109768352G>C	uc003ptj.2	-	16	2405	c.2151C>G	c.(2149-2151)TTC>TTG	p.F717L	MICAL1_uc003ptk.2_Missense_Mutation_p.F717L|MICAL1_uc010kdr.2_Missense_Mutation_p.F631L|MICAL1_uc011eaq.1_Missense_Mutation_p.F736L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	717	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCTCCGGTGGAAGAAATGGC	0.627		NaN											0	0	0	0.015359	0	30	66				
MED23	9439	broad.mit.edu	37	6	131908944	131908944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:131908944G>A	uc003qcs.1	-	29	4156	c.3982C>T	c.(3982-3984)CGT>TGT	p.R1328C	MED23_uc003qcq.2_Missense_Mutation_p.R1334C|MED23_uc003qcr.1_Missense_Mutation_p.R183C	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1328					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATCGAAGACGAAGTTTTAAA	0.403		NaN											0	0	0	0.004672	0	3	20				
PPIL4	85313	broad.mit.edu	37	6	149854672	149854672	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:149854672G>C	uc003qmo.1	-	7	630	c.600C>G	c.(598-600)TTC>TTG	p.F200L	PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Missense_Mutation_p.F200L	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	200					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCTTCCTTTGAAATCATCAA	0.323		NaN											0	0	0	0.001855	0	11	22				
ZDHHC14	79683	broad.mit.edu	37	6	157803263	157803263	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157803263C>T	uc003qqt.2	+	1	707	c.210C>T	c.(208-210)CTC>CTT	p.L70L	ZDHHC14_uc003qqs.2_Silent_p.L70L	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	70	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCTCGTCCTCATCCTGGTCA	0.627		NaN											0	0	0	0.001855	0	12	59				
ZDHHC14	79683	broad.mit.edu	37	6	157963684	157963684	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157963684G>T	uc003qqt.2	+	2	810	c.313G>T	c.(313-315)GTG>TTG	p.V105L	ZDHHC14_uc003qqs.2_Missense_Mutation_p.V105L|ZDHHC14_uc010kjm.1_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	105	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTTCTTCTTTGTGATGGGGAC	0.607		NaN											1	0	7.53681e-25	0.00632	8.12234e-25	25	50				
TULP4	56995	broad.mit.edu	37	6	158924831	158924831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:158924831G>A	uc003qrf.2	+	13	5493	c.4136G>A	c.(4135-4137)AGA>AAA	p.R1379K	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1379					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTGGGGAGAGAGAAGAAG	0.493		NaN											0	0	0	0.004007	0	15	15				
UNC93A	54346	broad.mit.edu	37	6	167709658	167709658	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:167709658G>A	uc003qvq.2	+	3	583	c.408G>A	c.(406-408)CAG>CAA	p.Q136Q	UNC93A_uc003qvr.2_Silent_p.Q136Q	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	136						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGTGAACCAGTATTTTGGCA	0.537		NaN											0	0	0	0.015359	0	28	116				
DLL1	28514	broad.mit.edu	37	6	170592977	170592977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:170592977C>T	uc003qxm.2	-	9	1860	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	464	Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGGAGAAGTCGTTCACGCCA	0.697		NaN											0	0	0	0.00308	0	6	11				
RNF216	54476	broad.mit.edu	37	7	5752476	5752476	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:5752476C>G	uc003soy.1	-	12	1871	c.1681G>C	c.(1681-1683)GAA>CAA	p.E561Q	RNF216_uc010ksz.1_Missense_Mutation_p.E183Q|RNF216_uc010kta.1_Missense_Mutation_p.E183Q|RNF216_uc011jwj.1_Missense_Mutation_p.E183Q|RNF216_uc003sox.1_Missense_Mutation_p.E618Q	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	561	RING-type 1.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGCTGCCTTCCATGCAGCTG	0.443		NaN											0	0	0	0.007413	0	17	15				
DAGLB	221955	broad.mit.edu	37	7	6472552	6472552	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:6472552G>A	uc003sqa.2	-	5	887	c.717C>T	c.(715-717)CTC>CTT	p.L239L	DAGLB_uc011jwt.1_Silent_p.L53L|DAGLB_uc011jwu.1_Missense_Mutation_p.S153L|DAGLB_uc003sqb.2_5'UTR|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.L198L|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	239	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GAAGCAGGGCGAGGCCCGCCG	0.607		NaN											0	0	0	0.003755	0	33	38				
HOXA3	3200	broad.mit.edu	37	7	27147998	27147998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:27147998C>T	uc011jzl.1	-	3	1068	c.868G>A	c.(868-870)GAG>AAG	p.E290K	HOXA3_uc011jzk.1_Missense_Mutation_p.E132K|HOXA3_uc003syk.2_Missense_Mutation_p.E290K	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	290					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						GACTGGGGCTCATACGGGACG	0.701		NaN											0	0	0	0.004482	0	7	57				
ADCYAP1R1	117	broad.mit.edu	37	7	31121345	31121345	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:31121345G>A	uc003tca.1	+	6	527	c.304G>A	c.(304-306)GAC>AAC	p.D102N	ADCYAP1R1_uc003tcb.1_Intron|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.D102N	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	102	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TGATTTTGGTGACAGTAACTC	0.493		NaN											0	0	0	0.006999	0	33	138				
FKBP9	11328	broad.mit.edu	37	7	33044890	33044890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:33044890G>A	uc003tdh.2	+	10	1821	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.R600Q|FKBP9_uc011kam.1_Missense_Mutation_p.R315Q	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	547	EF-hand 2.|2 (Potential).				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			AACCAGGACCGGAATGGAGAT	0.502		NaN											0	0	0	0.010504	0	15	78				
GLI3	2737	broad.mit.edu	37	7	42007389	42007389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:42007389C>T	uc011kbh.1	-	14	2327	c.2236G>A	c.(2236-2238)GAA>AAA	p.E746K	GLI3_uc011kbg.1_Missense_Mutation_p.E687K	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	746					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ATTGGGGTTTCATCGATGGCA	0.532		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.005443	0	25	114				
C7orf44	55744	broad.mit.edu	37	7	43679188	43679188	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:43679188T>C	uc003tin.1	-	6	528	c.434A>G	c.(433-435)AAG>AGG	p.K145R	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Missense_Mutation_p.K145R|C7orf44_uc003tiq.1_Missense_Mutation_p.K145R|C7orf44_uc003tip.1_Missense_Mutation_p.K145R	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	145						integral to membrane				ovary(1)	1						TCTCTACTCCTTTTTCACTTC	0.517		NaN											0	0	0	0.004672	0	3	135				
PURB	5814	broad.mit.edu	37	7	44924792	44924792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:44924792C>G	uc003tme.2	-	1	169	c.156G>C	c.(154-156)CAG>CAC	p.Q52H		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	52	By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						CCTTGGCGTTCTGCTTCACAT	0.672		NaN											0	0	0	0.014758	0	5	26				
ABCA13	154664	broad.mit.edu	37	7	48391850	48391850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:48391850C>T	uc003toq.2	+	31	10479	c.10454C>T	c.(10453-10455)TCA>TTA	p.S3485L	ABCA13_uc010kys.1_Missense_Mutation_p.S559L|ABCA13_uc003tos.1_Missense_Mutation_p.S311L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3485					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCCCATGTCTCATACACAATC	0.443		NaN											0	0	0	0.00874	0	35	144				
KIAA1324L	222223	broad.mit.edu	37	7	86569360	86569360	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:86569360G>C	uc011kha.1	-	6	998	c.813C>G	c.(811-813)GTC>GTG	p.V271V	KIAA1324L_uc003uif.1_Silent_p.V31V|KIAA1324L_uc011kgz.1_Silent_p.V157V|KIAA1324L_uc003uie.2_Silent_p.V104V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	271	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					GCACAGGCTTGACCGCCTTAG	0.368		NaN											0	0	0	0.012319	0	18	77				
ADAM22	53616	broad.mit.edu	37	7	87563851	87563851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:87563851G>A	uc003ujn.2	+	1	150	c.71G>A	c.(70-72)CGC>CAC	p.R24H	ADAM22_uc003uji.1_Missense_Mutation_p.R24H|ADAM22_uc003ujj.1_Missense_Mutation_p.R24H|ADAM22_uc003ujk.1_Missense_Mutation_p.R24H|ADAM22_uc003ujl.1_Missense_Mutation_p.R24H|ADAM22_uc003ujm.2_Missense_Mutation_p.R24H|ADAM22_uc003ujo.2_Missense_Mutation_p.R24H|ADAM22_uc003ujp.1_5'Flank	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	24					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCGGCGCGCTGCGGCCAG	0.647		NaN											0	0	0	0.009096	0	3	16				
ANKIB1	54467	broad.mit.edu	37	7	92027682	92027682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:92027682G>C	uc003ulw.2	+	20	3065	c.2689G>C	c.(2689-2691)GAC>CAC	p.D897H	ANKIB1_uc010lew.1_Missense_Mutation_p.D166H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	897							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCAGGCTGGACTCTGTCCC	0.507		NaN											0	0	0	0.004672	0	3	12				
COL1A2	1278	broad.mit.edu	37	7	94057029	94057029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94057029G>C	uc003ung.1	+	49	3829	c.3358G>C	c.(3358-3360)GAC>CAC	p.D1120H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1120					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTACAGGGCTGACCAGCCTCG	0.547		NaN								HNSCC(75;0.22)			0	0	0	0.014323	0	23	69				
COL1A2	1278	broad.mit.edu	37	7	94058695	94058695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94058695G>A	uc003ung.1	+	51	4378	c.3907G>A	c.(3907-3909)GAG>AAG	p.E1303K	COL1A2_uc011kib.1_Missense_Mutation_p.E155K	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1303	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTGTTGCTGAGGGCAACAG	0.458		NaN								HNSCC(75;0.22)			0	0	0	0.00499	0	14	50				
NPTX2	4885	broad.mit.edu	37	7	98256482	98256482	+	Silent	SNP	G	G	T	rs145736632	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:98256482G>T	uc003upl.2	+	4	1071	c.894G>T	c.(892-894)GCG>GCT	p.A298A		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	298	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACAGGTTGCGCAGCTGCCCC	0.632		NaN											1	0	7.87624e-14	0.016522	8.40443e-14	22	32				
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99364768C>T	uc003urv.1	-	8	888	c.784G>A	c.(784-786)GAA>AAA	p.E262K	CYP3A4_uc003urw.1_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E221K|CYP3A4_uc011kja.1_Missense_Mutation_p.E213K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E112K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308		NaN											0	0	0	0.008871	0	16	35				
MBLAC1	255374	broad.mit.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99725743C>T	uc003utp.2	+	2	1124	c.725C>T	c.(724-726)TCG>TTG	p.S242L		NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity|metal ion binding			breast(1)	1						AGGGAAGCCTCGCAGCCCGAG	0.677		NaN											0	0	0	0.009096	0	3	10				
PIK3CG	5294	broad.mit.edu	37	7	106545575	106545575	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:106545575C>G	uc003vdv.3	+	11	3137	c.3052C>G	c.(3052-3054)CTA>GTA	p.L1018V	PIK3CG_uc003vdu.2_Missense_Mutation_p.L1018V|PIK3CG_uc003vdw.2_Missense_Mutation_p.L1018V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	1018	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TAAGGCTTATCTAGCCCTTCG	0.398		NaN											0	0	0	0.01441	0	41	136				
GIMAP8	155038	broad.mit.edu	37	7	150174615	150174615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:150174615C>T	uc003whj.2	+	5	2075	c.1745C>T	c.(1744-1746)TCA>TTA	p.S582L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	582						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGAAGAACTCAGATAACAAA	0.483		NaN											0	0	0	0.009535	0	27	85				
NUB1	51667	broad.mit.edu	37	7	151073831	151073831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:151073831C>A	uc003wjx.2	+	14	1680	c.1675C>A	c.(1675-1677)CCC>ACC	p.P559T	NUB1_uc003wjw.2_Missense_Mutation_p.P521T|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	535					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAGCCTGCCTCCCGAGCTGCC	0.627		NaN											1	0	0.00909568	0.009096	0.00930201	4	7				
ARHGEF10	9639	broad.mit.edu	37	8	1893769	1893769	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:1893769C>G	uc003wpr.2	+	27	3523	c.3345C>G	c.(3343-3345)CTC>CTG	p.L1115L	ARHGEF10_uc003wps.2_Silent_p.L1077L|ARHGEF10_uc010lre.2_Silent_p.L766L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1140					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGGAAACTCTCAAGCACCTGC	0.617		NaN											0	0	0	0.008871	0	18	38				
MFHAS1	9258	broad.mit.edu	37	8	8750149	8750149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:8750149G>A	uc003wsj.1	-	1	983	c.420C>T	c.(418-420)CTC>CTT	p.L140L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	140	LRR 4.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGCTGAGGTTGAGCTTCCGCA	0.692		NaN											0	0	0	0.014758	0	4	4				
TNKS	8658	broad.mit.edu	37	8	9413865	9413865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:9413865C>T	uc003wss.2	+	1	421	c.416C>T	c.(415-417)TCA>TTA	p.S139L	TNKS_uc011kwv.1_Missense_Mutation_p.S139L|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	139	Poly-Ser.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		ACTTCTTCCTCATCTTCCTCT	0.632		NaN											0	0	0	0.01441	0	50	86				
WRN	7486	broad.mit.edu	37	8	31015039	31015039	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:31015039C>T	uc003xio.3	+	33	4763	c.3975C>T	c.(3973-3975)GTC>GTT	p.V1325V	WRN_uc010lvk.2_Silent_p.V792V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1325					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCCTCCCGTCAACTCAGGTG	0.478		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	0.013537	0	11	13				
RAB11FIP1	80223	broad.mit.edu	37	8	37732208	37732208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:37732208G>A	uc003xkm.1	-	3	1491	c.1447C>T	c.(1447-1449)CTT>TTT	p.L483F	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.L331F|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.L483F|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.L331F	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	483					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCTCACAAGGTCTTCAGCA	0.552		NaN											0	0	0	0.001168	0	6	158				
SGK196	84197	broad.mit.edu	37	8	42978000	42978000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:42978000C>A	uc003xpw.2	+	5	1292	c.1033C>A	c.(1033-1035)CAG>AAG	p.Q345K		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	345	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						CATGATGTCTCAGGCAAGAGA	0.493		NaN											1	0	2.0833e-19	0.01441	2.2274e-19	46	53				
MCM4	4173	broad.mit.edu	37	8	48874078	48874078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:48874078C>T	uc003xqk.1	+	3	168	c.73C>T	c.(73-75)CGG>TGG	p.R25W	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.R25W|MCM4_uc011ldi.1_Missense_Mutation_p.R25W|MCM4_uc010lxw.1_RNA	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	25					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACACAAGCTCGGAGTGAGGA	0.547		NaN											0	0	0	0.003163	0	12	53				
RP1	6101	broad.mit.edu	37	8	55538439	55538439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:55538439C>T	uc003xsd.1	+	4	2145	c.1997C>T	c.(1996-1998)TCA>TTA	p.S666L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	666					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGATTTTGTCATCTGTTGCC	0.348		NaN											0	0	0	0.008291	0	10	23				
LYN	4067	broad.mit.edu	37	8	56866484	56866484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:56866484G>A	uc003xsk.3	+	8	1013	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	LYN_uc003xsl.3_Missense_Mutation_p.R223Q	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	244					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGATCCCCCGGGAGTCCATC	0.527		NaN											0	0	0	0.014323	0	18	72				
NECAB1	64168	broad.mit.edu	37	8	91962060	91962060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:91962060G>C	uc011lgg.1	+	11	1080	c.886G>C	c.(886-888)GAA>CAA	p.E296Q	NECAB1_uc003yer.2_Missense_Mutation_p.E45Q	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	296	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GCTTTCAAATGAATCTCGCTA	0.353		NaN											0	0	0	0.009096	0	4	13				
INTS8	55656	broad.mit.edu	37	8	95850811	95850811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95850811C>G	uc003yhb.2	+	8	1108	c.982C>G	c.(982-984)CAA>GAA	p.Q328E	INTS8_uc003yha.1_Missense_Mutation_p.Q328E|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.Q155E	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	328	TPR 2.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TCCATATAGTCAAGTCCATAT	0.289		NaN											0	0	0	0.005524	0	34	90				
INTS8	55656	broad.mit.edu	37	8	95885644	95885644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95885644C>T	uc003yhb.2	+	22	2702	c.2576C>T	c.(2575-2577)GCA>GTA	p.A859V	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.A686V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	859	TPR 4.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TACCTCCAGGCAGGAGCTGTG	0.448		NaN											0	0	0	0.01441	0	97	251				
RNF19A	25897	broad.mit.edu	37	8	101270981	101270981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101270981G>A	uc003yjj.1	-	11	2637	c.2320C>T	c.(2320-2322)CAG>TAG	p.Q774*	RNF19A_uc003yjk.1_Nonsense_Mutation_p.Q774*	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	774	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATGCTACACTGATGTGGGGAA	0.398		NaN											0	0	0	0.007291	0	28	64				
RNF19A	25897	broad.mit.edu	37	8	101271310	101271310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101271310G>A	uc003yjj.1	-	11	2308	c.1991C>T	c.(1990-1992)TCC>TTC	p.S664F	RNF19A_uc003yjk.1_Missense_Mutation_p.S664F	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	664	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCTTCTTTGGACCACTTGGT	0.473		NaN									OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00623	0	38	101				
PKHD1L1	93035	broad.mit.edu	37	8	110534432	110534432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:110534432G>C	uc003yne.2	+	74	12153	c.12049G>C	c.(12049-12051)GAA>CAA	p.E4017Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4017	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGTTATCTGAACTCCAGGA	0.348		NaN								HNSCC(38;0.096)			0	0	0	0.00308	0	8	15				
MTSS1	9788	broad.mit.edu	37	8	125579322	125579322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:125579322G>C	uc003yrk.2	-	8	1250	c.716C>G	c.(715-717)TCA>TGA	p.S239*	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Nonsense_Mutation_p.S129*|MTSS1_uc003yri.2_Nonsense_Mutation_p.S39*|MTSS1_uc003yrj.2_Nonsense_Mutation_p.S239*|MTSS1_uc003yrl.2_Nonsense_Mutation_p.S243*	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	239	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTTCACTTGAGGAGGGCAG	0.483		NaN											0	0	0	0.004672	0	3	56				
KIAA0196	9897	broad.mit.edu	37	8	126090994	126090994	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:126090994C>G	uc003yrt.2	-	6	1026	c.697G>C	c.(697-699)GAT>CAT	p.D233H	KIAA0196_uc011lir.1_Missense_Mutation_p.D85H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	233					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGTAAATATCATCAGATCTC	0.398		NaN											0	0	0	0.016522	0	22	63				
ZFAT	57623	broad.mit.edu	37	8	135524803	135524803	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:135524803G>C	uc003yup.2	-	14	3451	c.3276C>G	c.(3274-3276)CTC>CTG	p.L1092L	ZFAT_uc011ljj.1_Silent_p.L211L|ZFAT_uc003yun.2_Silent_p.L1080L|ZFAT_uc003yuo.2_Silent_p.L1080L|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L1080L|ZFAT_uc010mej.2_Silent_p.L1030L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	1092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTGATGTGGAGATACTGGG	0.522		NaN											0	0	0	0.005524	0	35	103				
FAM135B	51059	broad.mit.edu	37	8	139164734	139164734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139164734G>A	uc003yuy.2	-	13	2155	c.1984C>T	c.(1984-1986)CAC>TAC	p.H662Y	FAM135B_uc003yux.2_Missense_Mutation_p.H563Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H224Y|FAM135B_uc003yvb.2_Missense_Mutation_p.H224Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	662										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTCTGTGTGAGAGTCCTTT	0.502		NaN								HNSCC(54;0.14)			0	0	0	0.00632	0	24	63				
FAM135B	51059	broad.mit.edu	37	8	139263175	139263175	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139263175G>T	uc003yuy.2	-	6	622	c.451C>A	c.(451-453)CAG>AAG	p.Q151K	FAM135B_uc003yux.2_Missense_Mutation_p.Q52K|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	151										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCGGGACCTGGTGGTGCAGA	0.587		NaN								HNSCC(54;0.14)			1	0	2.53126e-37	0.01441	2.74982e-37	52	189				
BAI1	575	broad.mit.edu	37	8	143570748	143570748	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:143570748G>A	uc003ywm.2	+	15	2763	c.2580G>A	c.(2578-2580)CCG>CCA	p.P860P		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	860	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAACCCCCGCCTCGCTCCC	0.602		NaN											0	0	0	0.004878	0	32	144				
ADAMTSL1	92949	broad.mit.edu	37	9	18777151	18777151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:18777151G>A	uc003zne.3	+	19	3051	c.2924G>A	c.(2923-2925)AGA>AAA	p.R975K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	975						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGAGCCCGAGAAGTGAGGAA	0.652		NaN											0	0	0	0.001168	0	5	40				
ELAVL2	1993	broad.mit.edu	37	9	23701419	23701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:23701419C>T	uc003zpu.2	-	5	946	c.671G>A	c.(670-672)AGA>AAA	p.R224K	ELAVL2_uc003zps.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpt.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpv.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpw.2_Missense_Mutation_p.R224K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	224					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGATACCTTCTGTTTGGAGA	0.488		NaN											0	0	0	0.004656	0	23	153				
NDUFB6	4712	broad.mit.edu	37	9	32553939	32553939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:32553939C>T	uc003zre.1	-	4	446	c.322G>A	c.(322-324)GAT>AAT	p.D108N	TOPORS_uc003zrb.2_5'Flank|TOPORS_uc003zrc.2_5'Flank|NDUFB6_uc003zrf.1_Missense_Mutation_p.D93N	NM_002493	NP_002484	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	108					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	AGAATTGTATCACCCTAGGAA	0.239		NaN											0	0	0	0.01441	0	48	64				
KIAA1045	23349	broad.mit.edu	37	9	34971383	34971383	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971383G>C	uc003zvq.2	+	2	266	c.88G>C	c.(88-90)GAC>CAC	p.D30H	KIAA1045_uc003zvr.2_Missense_Mutation_p.D30H	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	30							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGGCTGCGGGACAGGCCTTC	0.617		NaN											0	0	0	0.010729	0	8	87				
KIAA1045	23349	broad.mit.edu	37	9	34971486	34971486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971486G>A	uc003zvq.2	+	2	369	c.191G>A	c.(190-192)GGA>GAA	p.G64E	KIAA1045_uc003zvr.2_Missense_Mutation_p.G64E	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	64							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCAGAAGCAGGAACCTCGGTG	0.652		NaN											0	0	0	0.008291	0	10	70				
KIAA1045	23349	broad.mit.edu	37	9	34972478	34972478	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34972478G>A	uc003zvq.2	+	3	692	c.514G>A	c.(514-516)GAG>AAG	p.E172K	KIAA1045_uc003zvr.2_Missense_Mutation_p.E172K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	172	PHD-type.						calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAGTGCAGCGGAGGTGACGGA	0.597		NaN											0	0	0	0.007413	0	14	96				
RUSC2	9853	broad.mit.edu	37	9	35546546	35546546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:35546546G>C	uc003zww.2	+	2	283	c.28G>C	c.(28-30)GAG>CAG	p.E10Q	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E10Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	10						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACTGGAGAGACCCTCAT	0.562		NaN											0	0	0	0.01441	0	68	87				
RECK	8434	broad.mit.edu	37	9	36118870	36118870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:36118870C>T	uc003zyv.2	+	18	2456	c.2370C>T	c.(2368-2370)GTC>GTT	p.V790V	RECK_uc003zyw.2_Silent_p.V662V|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	790						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCCAGGCCGTCGGAGTCCTCT	0.602		NaN											0	0	0	0.001855	0	13	72				
FRMPD1	22844	broad.mit.edu	37	9	37746482	37746482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:37746482G>C	uc004aag.1	+	16	4497	c.4453G>C	c.(4453-4455)GAG>CAG	p.E1485Q	FRMPD1_uc004aah.1_Missense_Mutation_p.E1485Q	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1485						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GTCCCCCGAAGAGATGCAGGG	0.637		NaN											0	0	0	0.012319	0	18	24				
TMC1	117531	broad.mit.edu	37	9	75366836	75366836	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:75366836C>T	uc004aiz.1	+	11	1146	c.606C>T	c.(604-606)CTC>CTT	p.L202L	TMC1_uc010moz.1_Silent_p.L160L|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.L56L|TMC1_uc010mpa.1_Silent_p.L56L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	202	Helical; (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						ATATGGTTCTCTTTATCCTGA	0.373		NaN											0	0	0	0.01441	0	59	82				
TRPM6	140803	broad.mit.edu	37	9	77397292	77397292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:77397292C>G	uc004ajl.1	-	23	3433	c.3195G>C	c.(3193-3195)TTG>TTC	p.L1065F	TRPM6_uc004ajk.1_Missense_Mutation_p.L1060F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_3'UTR	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1065	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AGAAAGCAATCAACAGGTTCA	0.363		NaN											0	0	0	0.008361	0	26	42				
PRUNE2	158471	broad.mit.edu	37	9	79320827	79320827	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:79320827G>A	uc010mpk.2	-	8	6487	c.6363C>T	c.(6361-6363)CTC>CTT	p.L2121L	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2121					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGCAAGCACTGAGGTGCTTCT	0.493		NaN											0	0	0	0.01441	0	55	80				
HNRNPK	3190	broad.mit.edu	37	9	86587005	86587005	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:86587005G>A	uc004ang.3	-	11	969	c.745C>T	c.(745-747)CGC>TGC	p.R249C	HNRNPK_uc011lsw.1_Missense_Mutation_p.R9C|HNRNPK_uc004and.3_Missense_Mutation_p.R9C|HNRNPK_uc004ank.3_Missense_Mutation_p.R249C|HNRNPK_uc004anf.3_Missense_Mutation_p.R249C|HNRNPK_uc004anh.3_Missense_Mutation_p.R225C|HNRNPK_uc011lsx.1_Missense_Mutation_p.R225C|HNRNPK_uc004ani.3_Missense_Mutation_p.R249C|HNRNPK_uc004anj.3_Missense_Mutation_p.R249C|HNRNPK_uc004ann.3_Missense_Mutation_p.R225C|HNRNPK_uc004anl.3_Missense_Mutation_p.R249C|HNRNPK_uc004anm.3_Missense_Mutation_p.R249C|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	249	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|2-1.|Necessary for interaction with DDX1.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						CCCACTGGGCGTCCGCGACGG	0.498		NaN											0	0	0	0.004878	0	35	43				
CTSL1	1514	broad.mit.edu	37	9	90342571	90342571	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:90342571C>G	uc004aph.2	+	2	403	c.53C>G	c.(52-54)ACT>AGT	p.T18S	CTSL1_uc004api.2_Missense_Mutation_p.T18S|CTSL1_uc004apj.2_Intron|CTSL1_uc010mqh.2_5'UTR|CTSL1_uc004apk.2_Missense_Mutation_p.T18S|CTSL1_uc004apl.2_Missense_Mutation_p.T18S	NM_001912	NP_001903	P07711	CATL1_HUMAN	cathepsin L1 preproprotein	18					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			ovary(3)	3					Glucagon recombinant(DB00040)	GCCTCAGCTACTCTAACATTT	0.428		NaN											0	0	0	0.009096	0	3	124				
SHC3	53358	broad.mit.edu	37	9	91667005	91667005	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:91667005G>C	uc004aqg.2	-	7	1216	c.909C>G	c.(907-909)CTC>CTG	p.L303L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	303	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						GCTTAAACCGGAGCTCAAAGG	0.488		NaN											0	0	0	0.001984	0	7	73				
PTCH1	5727	broad.mit.edu	37	9	98229398	98229398	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:98229398C>T	uc004avk.3	-	15	2748	c.2560G>A	c.(2560-2562)GGA>AGA	p.G854R	PTCH1_uc010mro.2_Missense_Mutation_p.G703R|PTCH1_uc010mrp.2_Missense_Mutation_p.G703R|PTCH1_uc010mrq.2_Missense_Mutation_p.G703R|PTCH1_uc004avl.3_Missense_Mutation_p.G703R|PTCH1_uc010mrr.2_Missense_Mutation_p.G788R|PTCH1_uc004avm.3_Missense_Mutation_p.G853R	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	854	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G854*(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCGTCTTACCCTGAAGCCAG	0.458		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.014758	0	5	33				
ABCA1	19	broad.mit.edu	37	9	107554264	107554264	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:107554264G>A	uc004bcl.2	-	43	6086	c.5773C>T	c.(5773-5775)CGG>TGG	p.R1925W		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1925	ABC transporter 2.		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAGGCTTCCGCTTCCTTCTA	0.438		NaN											0	0	0	0.006214	0	6	33				
PSMD5	5711	broad.mit.edu	37	9	123593680	123593680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:123593680C>T	uc004bko.2	-	4	509	c.490G>A	c.(490-492)GAA>AAA	p.E164K	PSMD5_uc011lye.1_Intron	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						AGATTGCTTTCAAATAAAGCC	0.368		NaN											0	0	0	0.004007	0	15	77				
TOR2A	27433	broad.mit.edu	37	9	130496590	130496590	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:130496590G>A	uc004brs.3	-	2	460	c.405C>T	c.(403-405)ATC>ATT	p.I135I	TOR2A_uc004brt.3_Silent_p.I135I|TOR2A_uc004brw.3_Silent_p.I135I|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	135					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						TGTAGCGCTCGATGTGGCTGG	0.642		NaN									OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	16	36				
BAT2L1	84726	broad.mit.edu	37	9	134350698	134350698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:134350698G>A	uc004can.3	+	15	3237	c.3182G>A	c.(3181-3183)AGA>AAA	p.R1061K	BAT2L1_uc010mzj.1_Missense_Mutation_p.R644K|BAT2L1_uc004cao.3_Missense_Mutation_p.R419K	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1061							protein binding				0						TTTGGGGTCAGAGGACAGGCC	0.607		NaN											0	0	0	0.014758	0	5	22				
LHX3	8022	broad.mit.edu	37	9	139090906	139090906	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:139090906C>T	uc004cha.2	-	4	552	c.455_splice	c.e4-1	p.E152_splice	LHX3_uc004cgz.2_Splice_Site_p.E157_splice	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a						inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCCTCGGCCTCTGCGCGGCGG	0.776		NaN											0	0	0	0.006214	0	8	7				
MAN1B1	11253	broad.mit.edu	37	9	140002847	140002847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002847C>G	uc004cld.2	+	13	1939	c.1904C>G	c.(1903-1905)TCG>TGG	p.S635W	MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.S308W|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	635	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAGGTCCCCTCGGGTGGCTAT	0.612		NaN											0	0	0	0.008291	0	7	39				
MAN1B1	11253	broad.mit.edu	37	9	140002885	140002885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002885C>G	uc004cld.2	+	13	1977	c.1942C>G	c.(1942-1944)CAG>GAG	p.Q648E	MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.Q321E|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	648	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCAGGATCCTCAGAAGCCCGA	0.597		NaN											0	0	0	0.010729	0	10	85				
RBM10	8241	broad.mit.edu	37	X	47045024	47045024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:47045024C>G	uc004dhf.2	+	20	2729	c.2350C>G	c.(2350-2352)CAC>GAC	p.H784D	RBM10_uc004dhg.2_Missense_Mutation_p.H706D|RBM10_uc004dhh.2_Missense_Mutation_p.H783D|RBM10_uc010nhq.2_Missense_Mutation_p.H707D|RBM10_uc004dhi.2_Missense_Mutation_p.H849D	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	784	C2H2-type; atypical.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CTCAGGGCTCCACAAGGTAAC	0.612		NaN											0	0	0	0.014758	0	4	3				
FAM120C	54954	broad.mit.edu	37	X	54162953	54162953	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:54162953G>C	uc004dsz.3	-	5	1312	c.1229C>G	c.(1228-1230)TCT>TGT	p.S410C	FAM120C_uc011moh.1_Missense_Mutation_p.S410C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	410										ovary(1)|central_nervous_system(1)	2						TGGCAGCGAAGAGAGTTTGGT	0.463		NaN											0	0	0	0.00499	0	15	45				
ARMCX5	64860	broad.mit.edu	37	X	101857613	101857613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:101857613G>A	uc004ejg.2	+	6	1425	c.544G>A	c.(544-546)GTA>ATA	p.V182I	ARMCX5_uc004ejh.2_Missense_Mutation_p.V182I	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	182							binding			ovary(1)	1						AGAGCCTAGTGTAGGGTCCTG	0.488		NaN											0	0	0	0.001855	0	12	45				
ESX1	80712	broad.mit.edu	37	X	103499060	103499060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:103499060G>A	uc004ely.2	-	2	339	c.281C>T	c.(280-282)CCG>CTG	p.P94L		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	94					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGTTGCTCCGGCTTGGTCAG	0.716		NaN											0	0	0	0.010818	0	27	33				
TP73	7161	broad.mit.edu	37	1	3640003	3640003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:3640003G>A	uc001akp.2	+	6	812	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q	TP73_uc001akq.2_Silent_p.Q234Q|TP73_uc010nzj.1_Silent_p.Q185Q|TP73_uc001akr.2_Silent_p.Q185Q|TP73_uc009vlk.1_Silent_p.Q185Q|TP73_uc001aks.2_Silent_p.Q185Q|TP73_uc010nzk.1_Silent_p.Q163Q	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	234	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCGGCAGGCAGAGCGTCGTGG	0.657		NaN											0	0	0	0.014758	0	5	39				
VPS13D	55187	broad.mit.edu	37	1	12389897	12389897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:12389897C>G	uc001atv.2	+	37	8350	c.8209C>G	c.(8209-8211)CTT>GTT	p.L2737V	VPS13D_uc001atw.2_Missense_Mutation_p.L2737V|VPS13D_uc001atx.2_Missense_Mutation_p.L1925V|VPS13D_uc001aty.1_Missense_Mutation_p.L475V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2737					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGAATTTTCTTCAGCGTGT	0.428		NaN											0	0	0	0.105934	0	11	39				
UQCRHL	440567	broad.mit.edu	37	1	16133952	16133952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:16133952C>A	uc009vol.1	-	1	243	c.193G>T	c.(193-195)GAG>TAG	p.E65*		NM_001089591	NP_001083060			ubiquinol-cytochrome c reductase hinge												0						GTGCAATCCTCTTCTGTATGT	0.463		NaN											1	0	2.32078e-09	0.024245	2.57143e-09	13	154				
ARHGEF10L	55160	broad.mit.edu	37	1	17958953	17958953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:17958953C>G	uc001ban.2	+	16	1881	c.1722C>G	c.(1720-1722)ATC>ATG	p.I574M	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I535M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I535M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I535M|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I332M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I340M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I352M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I282M|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	574					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCCAACATCAACTTCAAGT	0.597		NaN											0	0	0	0.108266	0	19	132				
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:24388577C>T	uc001bin.3	-	33	3956	c.3793G>A	c.(3793-3795)GAT>AAT	p.D1265N	MYOM3_uc001bil.3_Missense_Mutation_p.D158N|MYOM3_uc001bim.3_Missense_Mutation_p.D922N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1265										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527		NaN											0	0	0	0.055883	0	19	147				
WDTC1	23038	broad.mit.edu	37	1	27623588	27623588	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27623588C>T	uc009vst.2	+	11	1534	c.999C>T	c.(997-999)TCC>TCT	p.S333S	WDTC1_uc001bno.2_Silent_p.S332S|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.S11S	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	333							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		acggtgtgtccaaTGGCCTGC	0.483		NaN									OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.038147	0	7	21				
WDTC1	23038	broad.mit.edu	37	1	27631682	27631682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27631682G>C	uc009vst.2	+	15	2369	c.1834G>C	c.(1834-1836)GAG>CAG	p.E612Q	WDTC1_uc001bno.2_Missense_Mutation_p.E611Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.E290Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	612	WD 7.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCCCGACCAGAGGTGAGGGT	0.617		NaN											0	0	0	0.058154	0	7	24				
PHACTR4	65979	broad.mit.edu	37	1	28818294	28818294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:28818294G>A	uc001bpw.2	+	12	2293	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.D655N|PHACTR4_uc001bpy.2_Missense_Mutation_p.D681N|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	671							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCTGCTGACAAGGTACC	0.368		NaN											0	0	0	0.009096	0	3	63				
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:34166245C>T	uc001bxn.1	-	23	3514	c.3485G>A	c.(3484-3486)CGT>CAT	p.R1162H	CSMD2_uc001bxm.1_Missense_Mutation_p.R1202H|CSMD2_uc001bxo.1_Missense_Mutation_p.R75H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498		NaN											0	0	0	0.076483	0	20	52				
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:38484964C>T	uc001ccn.3	+	6	567	c.476C>T	c.(475-477)CCG>CTG	p.P159L	UTP11L_uc009vvm.2_Missense_Mutation_p.P90L|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.P90L	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar	159					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433		NaN											0	0	0	0.099896	0	25	115				
ELAVL4	1996	broad.mit.edu	37	1	50642770	50642770	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:50642770T>G	uc001csb.2	+	3	528	c.260T>G	c.(259-261)TTA>TGA	p.L87*	ELAVL4_uc001cry.3_Nonsense_Mutation_p.L90*|ELAVL4_uc001crz.3_Nonsense_Mutation_p.L87*|ELAVL4_uc001csa.3_Nonsense_Mutation_p.L104*|ELAVL4_uc001csc.3_Nonsense_Mutation_p.L87*|ELAVL4_uc009vyu.2_Nonsense_Mutation_p.L92*|ELAVL4_uc010omz.1_Nonsense_Mutation_p.L92*	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	87	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGACAGAGTTTAGGGTATGGA	0.264		NaN											0	0	0	0.014758	0	5	29				
PGM1	5236	broad.mit.edu	37	1	64095755	64095755	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:64095755C>T	uc001dbh.2	+	3	765	c.552C>T	c.(550-552)TTC>TTT	p.F184F	PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Silent_p.F202F	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	184					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						TCAAACCCTTCACAGGCATGT	0.428		NaN											0	0	0	0.038147	0	7	83				
ATP1A1	476	broad.mit.edu	37	1	116931580	116931580	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:116931580C>T	uc001ege.2	+	7	1032	c.693C>T	c.(691-693)TTC>TTT	p.F231F	ATP1A1_uc010owv.1_Silent_p.F200F|ATP1A1_uc010oww.1_Silent_p.F231F|ATP1A1_uc010owx.1_Silent_p.F200F	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	231	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCAGATTTCACAAATGAAA	0.443		NaN											0	0	0	0.021553	0	5	60				
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325523G>C	uc001ezw.3	-	3	4812	c.4739C>G	c.(4738-4740)ACT>AGT	p.T1580S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507		NaN											0	0	0	0.021553	0	5	282				
FLG2	388698	broad.mit.edu	37	1	152325542	152325542	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325542T>A	uc001ezw.3	-	3	4793	c.4720A>T	c.(4720-4722)ACT>TCT	p.T1574S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1574							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGGCTAGTTCTCTGTCTT	0.507		NaN											0	0	0	0.02938	0	5	297				
ATF6	22926	broad.mit.edu	37	1	161823073	161823073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:161823073G>A	uc001gbr.2	+	12	1560	c.1493G>A	c.(1492-1494)AGA>AAA	p.R498K	ATF6_uc001gbq.1_Missense_Mutation_p.R498K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	498	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACCAAGTCAAGAAGAATGACA	0.313		NaN											0	0	0	0.004672	0	3	32				
F5	2153	broad.mit.edu	37	1	169512142	169512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:169512142C>G	uc001ggg.1	-	13	2331	c.2186G>C	c.(2185-2187)AGA>ACA	p.R729T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	729	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCAGCCAGTCTGTTCTGGTA	0.433		NaN											0	0	0	0.069456	0	34	182				
EXOC8	149371	broad.mit.edu	37	1	231471422	231471422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:231471422C>G	uc001huq.2	-	1	2157	c.2070G>C	c.(2068-2070)GAG>GAC	p.E690D		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	690					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAAACCTTTTCTCCACCACAG	0.423		NaN											0	0	0	0.069456	0	30	130				
DIP2C	22982	broad.mit.edu	37	10	468809	468809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:468809C>T	uc001ifp.2	-	5	649	c.559G>A	c.(559-561)GGG>AGG	p.G187R	DIP2C_uc009xhk.1_Silent_p.A188A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	187						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGGCAGCCCCGCTGCCCCCG	0.617		NaN											0	0	0	0.105934	0	10	61				
LARP4B	23185	broad.mit.edu	37	10	888915	888915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:888915C>A	uc001ifs.1	-	6	644	c.603G>T	c.(601-603)AAG>AAT	p.K201N		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	201	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						TGCTGAGCTTCTTGATGTGGT	0.388		NaN											1	0	3.59834e-05	0.021553	3.81892e-05	5	47				
CALML3	810	broad.mit.edu	37	10	5567418	5567418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5567418G>A	uc001iie.1	+	1	495	c.370G>A	c.(370-372)GAG>AAG	p.E124K	uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	124	EF-hand 4.						calcium ion binding				0						GGAGGTGGACGAGATGATCCG	0.657		NaN											0	0	0	0.09319	0	10	32				
C10orf18	54906	broad.mit.edu	37	10	5790413	5790413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5790413G>A	uc001iij.2	+	15	5654	c.5029G>A	c.(5029-5031)GAG>AAG	p.E1677K	C10orf18_uc001iik.2_Missense_Mutation_p.E521K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1677										ovary(1)|central_nervous_system(1)	2						AATAAATGCAGAGCCAGTGTT	0.453		NaN											0	0	0	0.105934	0	9	51				
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:55587219G>A	uc001jju.1	-	32	4696	c.4301C>T	c.(4300-4302)GCG>GTG	p.A1434V	PCDH15_uc010qhq.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.1_Missense_Mutation_p.A1434V|PCDH15_uc010qhs.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.1_Missense_Mutation_p.A1441V|PCDH15_uc010qhu.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhy.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1434	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.443		NaN								HNSCC(58;0.16)			0	0	0	0.09319	0	10	59				
JMJD1C	221037	broad.mit.edu	37	10	64950860	64950860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:64950860C>T	uc001jmn.2	-	17	6385	c.6085G>A	c.(6085-6087)GAA>AAA	p.E2029K	JMJD1C_uc001jml.2_Missense_Mutation_p.E1792K|JMJD1C_uc001jmm.2_Missense_Mutation_p.E1741K|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1847K|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1847K|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2029					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGGTAAGTTCTTTGTTTTCT	0.224		NaN											0	0	0	0.02938	0	6	30				
MAT1A	4143	broad.mit.edu	37	10	82043687	82043687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:82043687C>T	uc001kbw.2	-	3	532	c.277G>A	c.(277-279)GAT>AAT	p.D93N		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	93					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTGAGTCATCGTAGCCGATG	0.587		NaN											0	0	0	0.055883	0	15	75				
WAPAL	23063	broad.mit.edu	37	10	88206121	88206121	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:88206121T>C	uc001kdo.2	-	16	3642	c.3200A>G	c.(3199-3201)GAT>GGT	p.D1067G	WAPAL_uc009xsv.2_Missense_Mutation_p.D326G|WAPAL_uc001kdn.2_Missense_Mutation_p.D1104G|WAPAL_uc009xsw.2_Missense_Mutation_p.D1061G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	1067	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TCCACTCTTATCATGCTGAGT	0.438		NaN											0	0	0	0.069234	0	9	90				
CEP55	55165	broad.mit.edu	37	10	95275294	95275294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:95275294A>G	uc009xug.2	+	5	843	c.661A>G	c.(661-663)AAA>GAA	p.K221E	CEP55_uc001kiq.3_Missense_Mutation_p.K221E	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	221	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				ACAGCAGACAAAAAAGCCTGA	0.378		NaN											0	0	0	0.043863	0	16	61				
PDZD7	79955	broad.mit.edu	37	10	102789913	102789913	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:102789913G>A	uc001kso.1	-	2	279	c.64C>T	c.(64-66)CTG>TTG	p.L22L	PDZD7_uc001ksn.2_Silent_p.L22L|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	22						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGGAGCTCAGAGAGCCGGAG	0.662		NaN											0	0	0	0.009096	0	4	24				
CCDC147	159686	broad.mit.edu	37	10	106214254	106214254	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:106214254G>T	uc001kyh.2	+	18	2719	c.2585G>T	c.(2584-2586)GGA>GTA	p.G862V		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	862										ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTGGGGGCGGATTTCCTCTC	0.463		NaN											1	0	1.56452e-12	0.043863	1.78343e-12	19	102				
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:118321149G>A	uc001lcm.2	+	12	1377	c.1334_splice	c.e12+1	p.Q445_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363		NaN											0	0	0	0.083992	0	19	70				
SIGIRR	59307	broad.mit.edu	37	11	408082	408082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:408082G>A	uc001lpd.2	-	4	661	c.331C>T	c.(331-333)CAG>TAG	p.Q111*	SIGIRR_uc001lpf.2_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpe.1_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpg.2_Nonsense_Mutation_p.Q111*	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	111	Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTCTCTGAAGAGTGAAG	0.592		NaN											0	0	0	0.055883	0	18	69				
EPS8L2	64787	broad.mit.edu	37	11	720214	720214	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:720214C>T	uc001lqt.2	+	5	565	c.318C>T	c.(316-318)ATC>ATT	p.I106I	EPS8L2_uc010qwj.1_Silent_p.I106I|EPS8L2_uc001lqu.2_Silent_p.I106I|EPS8L2_uc010qwk.1_Silent_p.I106I|EPS8L2_uc001lqv.2_Silent_p.I61I|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	106	PID.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGACATCGAGTCACAGG	0.672		NaN											0	0	0	0.038147	0	6	31				
TRPM5	29850	broad.mit.edu	37	11	2428020	2428020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:2428020C>T	uc001lwm.3	-	21	3131	c.3122G>A	c.(3121-3123)AGA>AAA	p.R1041K	TRPM5_uc010qxl.1_Missense_Mutation_p.R1041K|TRPM5_uc009ydn.2_Missense_Mutation_p.R1043K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	1041	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGCAGGTCTCTCTCTGGGAA	0.632		NaN											0	0	0	0.038147	0	6	44				
ZNF214	7761	broad.mit.edu	37	11	7022459	7022459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:7022459C>G	uc001mfa.2	-	3	758	c.455G>C	c.(454-456)AGA>ACA	p.R152T	ZNF214_uc010ray.1_Missense_Mutation_p.R152T|ZNF214_uc009yfh.1_Missense_Mutation_p.R152T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTAGATTTCTCTACCATAGTC	0.378		NaN											0	0	0	0.105934	0	12	74				
AMBRA1	55626	broad.mit.edu	37	11	46567156	46567156	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567156G>C	uc010rgu.1	-	5	909	c.549C>G	c.(547-549)GTC>GTG	p.V183V	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V183V|AMBRA1_uc001ncu.1_Silent_p.V183V|AMBRA1_uc001ncv.2_Silent_p.V183V|AMBRA1_uc001ncw.2_Silent_p.V183V|AMBRA1_uc001ncx.2_Silent_p.V183V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	183					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCACTCACCGGACCCGTTCCA	0.547		NaN											0	0	0	0.028581	0	14	97				
AMBRA1	55626	broad.mit.edu	37	11	46567257	46567257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567257G>A	uc010rgu.1	-	5	808	c.448C>T	c.(448-450)CAG>TAG	p.Q150*	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q150*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	150	WD 3.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAGGAGCTGAGCCGTAGGG	0.527		NaN											0	0	0	0.024245	0	13	57				
ZDHHC5	25921	broad.mit.edu	37	11	57457644	57457644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:57457644G>A	uc001nkx.1	+	5	1782	c.526G>A	c.(526-528)GAG>AAG	p.E176K	ZDHHC5_uc001nky.1_Missense_Mutation_p.E123K|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	176						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTACCACATAGAGGAACTCTC	0.502		NaN											0	0	0	0.021553	0	6	75				
VWCE	220001	broad.mit.edu	37	11	61026231	61026231	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:61026231G>C	uc001nra.2	-	20	3063	c.2784C>G	c.(2782-2784)CTC>CTG	p.L928L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	928						extracellular region	calcium ion binding			ovary(1)	1						GGGCTGTGGAGAGTCTAGAGG	0.642		NaN											0	0	0	0.0333	0	13	64				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:62296070A>G	uc001ntl.2	-	5	6119	c.5819T>C	c.(5818-5820)GTG>GCG	p.V1940A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1940					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502		NaN											0	0	0	0.014758	0	5	259				
RCOR2	283248	broad.mit.edu	37	11	63681907	63681907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:63681907C>T	uc001nyc.2	-	6	975	c.587G>A	c.(586-588)CGC>CAC	p.R196H		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						TTTGTCCTTGCGGCCCCCCAG	0.602		NaN											0	0	0	0.014758	0	4	97				
ZFPL1	7542	broad.mit.edu	37	11	64855481	64855481	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:64855481C>T	uc001ocq.1	+	8	993	c.828C>T	c.(826-828)TTC>TTT	p.F276F		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	276	Helical; (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCTGGGCTTCCTGGCCCTCC	0.687		NaN											0	0	0	0.02938	0	7	101				
ANO1	55107	broad.mit.edu	37	11	70003070	70003070	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:70003070G>A	uc001opj.2	+	16	1826	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	ANO1_uc001opk.1_Silent_p.L449L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L216L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	507	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						AAGTGAAGCTGACATGGAGAG	0.502		NaN											0	0	0	0.014758	0	4	17				
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:92616261C>T	uc001pdj.3	+	23	12656	c.12639C>T	c.(12637-12639)CGC>CGT	p.R4213R	FAT3_uc001pdi.3_Silent_p.R653R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4213	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.0333	0	15	72				
EXPH5	23086	broad.mit.edu	37	11	108384321	108384321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:108384321C>T	uc001pkk.2	-	6	2024	c.1913G>A	c.(1912-1914)AGA>AAA	p.R638K	EXPH5_uc010rvy.1_Missense_Mutation_p.R450K|EXPH5_uc010rvz.1_Missense_Mutation_p.R482K|EXPH5_uc010rwa.1_Missense_Mutation_p.R562K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	638					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATTCCTTCTGTCATCAGA	0.408		NaN											0	0	0	0.024245	0	12	75				
HSPB2	3316	broad.mit.edu	37	11	111784264	111784264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:111784264C>A	uc001pmg.2	+	2	288	c.194C>A	c.(193-195)TCC>TAC	p.S65Y	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	65					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCAGGGGCCTCCGAGCTTAGG	0.622		NaN											1	0	0.000157383	0.038147	0.000165761	7	106				
USP28	57646	broad.mit.edu	37	11	113683113	113683113	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:113683113G>A	uc001poh.2	-	16	1890	c.1857C>T	c.(1855-1857)ATC>ATT	p.I619I	USP28_uc001pog.2_Silent_p.I327I|USP28_uc010rwy.1_Silent_p.I494I|USP28_uc001poi.2_5'UTR	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	619					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGTAACAGAGATGTCATTGT	0.418		NaN											0	0	0	0.058154	0	10	77				
FOXR1	283150	broad.mit.edu	37	11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:118851213T>C	uc001pui.2	+	5	850	c.625T>C	c.(625-627)TTT>CTT	p.F209L	FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.F40L	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562		NaN											0	0	0	0.009096	0	3	74				
OR8B8	26493	broad.mit.edu	37	11	124310774	124310774	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:124310774C>A	uc010sal.1	-	1	208	c.208G>T	c.(208-210)GAT>TAT	p.D70Y		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGCAGAAATCTATGAAGGAC	0.453		NaN											1	0	0.000602214	0.014758	0.000629484	5	56				
CLEC4A	50856	broad.mit.edu	37	12	8288244	8288244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:8288244C>G	uc001qtz.1	+	4	609	c.362C>G	c.(361-363)TCT>TGT	p.S121C	CLEC4A_uc009zga.1_Missense_Mutation_p.S82C|CLEC4A_uc001qub.1_Missense_Mutation_p.S88C|CLEC4A_uc001quc.1_Missense_Mutation_p.S49C|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	121	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TACTTTATTTCTACTGAATCA	0.438		NaN											0	0	0	0.004672	0	3	69				
EPS8	2059	broad.mit.edu	37	12	15815014	15815014	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:15815014A>G	uc009zif.2	-	9	850	c.756T>C	c.(754-756)TAT>TAC	p.Y252Y	EPS8_uc001rdb.2_Silent_p.Y252Y|EPS8_uc009zig.2_5'UTR|EPS8_uc010shv.1_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	252					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTGCTCATGATACTGCCTTG	0.383		NaN											0	0	0	0.009096	0	3	136				
SOX5	6660	broad.mit.edu	37	12	24048864	24048864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:24048864C>A	uc001rfw.2	-	2	235	c.133G>T	c.(133-135)GAC>TAC	p.D45Y	SOX5_uc001rfx.2_Missense_Mutation_p.D32Y|SOX5_uc001rfy.2_Missense_Mutation_p.D32Y|SOX5_uc010siv.1_Missense_Mutation_p.D32Y|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D32Y|SOX5_uc001rga.2_Missense_Mutation_p.D45Y	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	45					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GGGAGCCCGTCACTCTCCTCT	0.527		NaN											1	0	1.04594e-18	0.086207	1.20719e-18	35	183				
KRT2	3849	broad.mit.edu	37	12	53044194	53044194	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:53044194G>A	uc001sat.2	-	2	762	c.729C>T	c.(727-729)CTC>CTT	p.L243L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	243	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCTGCAGTGAGCCCATCCA	0.488		NaN											0	0	0	0.048971	0	47	177				
SLC26A10	65012	broad.mit.edu	37	12	58017661	58017661	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:58017661C>T	uc001spe.2	+	8	1407	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	366	Helical; (Potential).					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					GTCGGTGCTGCTGTGGCTGGG	0.562		NaN											0	0	0	0.024245	0	14	84				
USP15	9958	broad.mit.edu	37	12	62783261	62783261	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62783261A>G	uc001src.1	+	12	1533	c.1524A>G	c.(1522-1524)GCA>GCG	p.A508A	USP15_uc001srb.1_Silent_p.A479A	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	508					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTGTACAGCATTGTCTGCTT	0.308		NaN											0	0	0	0.0333	0	14	51				
USP15	9958	broad.mit.edu	37	12	62798096	62798096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62798096G>A	uc001src.1	+	22	2896	c.2887G>A	c.(2887-2889)GAA>AAA	p.E963K	USP15_uc001srb.1_Missense_Mutation_p.E934K	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	963					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGAAAGTGATGAAGATAGCAA	0.403		NaN											0	0	0	0.020292	0	14	46				
GRIP1	23426	broad.mit.edu	37	12	66770815	66770815	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:66770815C>T	uc001stk.2	-	21	2845	c.2604G>A	c.(2602-2604)TTG>TTA	p.L868L	GRIP1_uc010sta.1_Silent_p.L812L|GRIP1_uc001stj.2_Intron|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Intron	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	920					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393		NaN											0	0	0	0.028581	0	15	95				
ATP2B1	490	broad.mit.edu	37	12	90036059	90036059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:90036059C>G	uc001tbh.2	-	2	463	c.282G>C	c.(280-282)AAG>AAC	p.K94N	ATP2B1_uc001tbg.2_Missense_Mutation_p.K94N	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	94	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AGGTTTTTGGCTTTTTAGGAG	0.318		NaN											0	0	0	0.048971	0	41	241				
EEA1	8411	broad.mit.edu	37	12	93247696	93247696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:93247696G>A	uc001tck.2	-	6	666	c.401C>T	c.(400-402)TCA>TTA	p.S134L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	134	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GTTACCTGCTGATGAATCAGT	0.308		NaN											0	0	0	0.047766	0	8	28				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453074	100453074	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:100453074C>T	uc001tgq.2	-	14	2210	c.1981G>A	c.(1981-1983)GCT>ACT	p.A661T	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A311T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	661										ovary(2)	2						TGTTCATGAGCATGTCTCTGG	0.318		NaN											0	0	0	0.004672	0	3	56				
BTBD11	121551	broad.mit.edu	37	12	108006588	108006588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:108006588G>A	uc001tmk.1	+	6	2362	c.1841G>A	c.(1840-1842)CGT>CAT	p.R614H	BTBD11_uc009zut.1_Missense_Mutation_p.R614H|BTBD11_uc001tmj.2_Missense_Mutation_p.R614H|BTBD11_uc001tml.1_Missense_Mutation_p.R151H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	614	ANK 1.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GCCTGCGTCCGTGGGGACGAG	0.577		NaN											0	0	0	0.058154	0	7	41				
NOS1	4842	broad.mit.edu	37	12	117698400	117698400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:117698400G>C	uc001twm.1	-	14	2923	c.2237C>G	c.(2236-2238)TCG>TGG	p.S746W	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	746	Calmodulin-binding (Potential).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCTTGGCCGAGAACTTGAC	0.522		NaN											0	0	0	0.014758	0	4	31				
CLIP1	6249	broad.mit.edu	37	12	122825899	122825899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:122825899C>T	uc001ucg.1	-	10	1958	c.1852G>A	c.(1852-1854)GAT>AAT	p.D618N	CLIP1_uc001uch.1_Missense_Mutation_p.D607N|CLIP1_uc001uci.1_Missense_Mutation_p.D572N|CLIP1_uc001ucj.1_Missense_Mutation_p.D308N|CLIP1_uc009zxo.1_Missense_Mutation_p.D174N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	618	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTATCACATCTGAGTTCTCT	0.478		NaN											0	0	0	0.049695	0	18	67				
POLE	5426	broad.mit.edu	37	12	133257231	133257231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:133257231C>G	uc001uks.1	-	3	291	c.247G>C	c.(247-249)GAT>CAT	p.D83H	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	83					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAGTAGTAATCCACTGCACTG	0.428		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.028581	0	15	64				
PAN3	255967	broad.mit.edu	37	13	28834599	28834599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:28834599C>T	uc001urz.2	+	7	834	c.826C>T	c.(826-828)CAT>TAT	p.H276Y	PAN3_uc010tdo.1_Missense_Mutation_p.H422Y|PAN3_uc001ury.2_Missense_Mutation_p.H110Y|PAN3_uc001urx.2_Missense_Mutation_p.H222Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	422	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCAAACTATCATATTTATCC	0.323		NaN											0	0	0	0.030593	0	24	56				
FRY	10129	broad.mit.edu	37	13	32745308	32745308	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:32745308G>A	uc001utx.2	+	18	2548	c.2052G>A	c.(2050-2052)TCG>TCA	p.S684S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTTGATTCGTCCCTGAAGT	0.443		NaN											0	0	0	0.080422	0	30	51				
ATP11A	23250	broad.mit.edu	37	13	113532571	113532571	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:113532571T>A	uc001vsi.3	+	29	3456	c.3368T>A	c.(3367-3369)TTT>TAT	p.F1123Y	ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1123	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAACCATCTTTATGCTTTCT	0.547		NaN											0	0	0	0.014758	0	4	80				
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:114077230G>A	uc001vtq.1	-	7	1059	c.972C>T	c.(970-972)CTC>CTT	p.L324L	ADPRHL1_uc001vtp.1_Silent_p.L242L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	324					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617		NaN											0	0	0	0.045705	0	27	83				
REC8	9985	broad.mit.edu	37	14	24648055	24648055	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:24648055G>A	uc001wmr.2	+	16	1563	c.1136G>A	c.(1135-1137)CGA>CAA	p.R379Q	REC8_uc001wms.2_Missense_Mutation_p.R379Q	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	379	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		GCCCTCAGGCGAGAGCTGCCT	0.582		NaN											0	0	0	0.105934	0	14	186				
CDKL1	8814	broad.mit.edu	37	14	50845041	50845041	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:50845041G>A	uc010anu.1	-	9	1208	c.1208C>T	c.(1207-1209)CCT>CTT	p.P403L	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					agggcaataaggttcttgctc	0		NaN											0	0	0	0.020292	0	13	23				
ARID4A	5926	broad.mit.edu	37	14	58831244	58831244	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:58831244G>T	uc001xdp.2	+	20	2691	c.2437G>T	c.(2437-2439)GGC>TGC	p.G813C	ARID4A_uc001xdo.2_Missense_Mutation_p.G813C|ARID4A_uc001xdq.2_Missense_Mutation_p.G813C|ARID4A_uc010apg.1_Missense_Mutation_p.G491C	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	813					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TTCATCATTTGGCCAGAATGA	0.333		NaN											1	0	2.74318e-10	0.058154	3.07636e-10	8	22				
C14orf68	283600	broad.mit.edu	37	14	100795895	100795895	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:100795895C>G	uc001yhc.2	+	6	913	c.840C>G	c.(838-840)CTC>CTG	p.L280L	C14orf68_uc001yhd.2_Silent_p.L134L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	280	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGCTGGTACTCAATTGCTGCC	0.647		NaN											0	0	0	0.045705	0	27	83				
CEP152	22995	broad.mit.edu	37	15	49074365	49074365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49074365T>C	uc001zwy.2	-	11	1418	c.1384A>G	c.(1384-1386)ATG>GTG	p.M462V	CEP152_uc001zwz.2_Missense_Mutation_p.M462V|CEP152_uc001zxa.1_Missense_Mutation_p.M369V	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	462	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGCACTCATAGCATGTGCC	0.393		NaN											0	0	0	0.020292	0	10	61				
SECISBP2L	9728	broad.mit.edu	37	15	49285034	49285034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49285034C>T	uc001zxe.1	-	18	2847	c.2713G>A	c.(2713-2715)GAA>AAA	p.E905K	SECISBP2L_uc001zxd.1_Missense_Mutation_p.E860K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	905										breast(1)|skin(1)	2						CTGGGTTTTTCAGAAGTGCTG	0.433		NaN											0	0	0	0.034045	0	27	95				
MYO1E	4643	broad.mit.edu	37	15	59500904	59500904	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:59500904G>A	uc002aga.2	-	14	1878	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	502	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GATGAATGATGAAGCCTTGGT	0.453		NaN											0	0	0	0.069234	0	8	150				
C15orf42	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:90119305C>T	uc002boe.2	+	1	488	c.488C>T	c.(487-489)TCG>TTG	p.S163L		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	163					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTCCGCACTCGCAGAGGGAG	0.682		NaN											0	0	0	0.009096	0	3	23				
SYNM	23336	broad.mit.edu	37	15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:99670051C>G	uc002bup.2	+	6	1606	c.1486C>G	c.(1486-1488)CTG>GTG	p.L496V	SYNM_uc002buo.2_Missense_Mutation_p.L496V|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	496	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						GACCGTCATTCTGGGAAAGAA	0.493		NaN											0	0	0	0.004672	0	3	21				
C16orf11	146325	broad.mit.edu	37	16	613542	613542	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:613542C>T	uc002chk.2	+	2	527	c.248C>T	c.(247-249)CCT>CTT	p.P83L		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	83	Pro-rich.									central_nervous_system(1)	1						TCCACCACGCCTAGGCCCCAC	0.692		NaN											0	0	0	0.014758	0	4	23				
TELO2	9894	broad.mit.edu	37	16	1552951	1552951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:1552951C>T	uc002cly.2	+	15	2081	c.1790C>T	c.(1789-1791)TCA>TTA	p.S597L		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	597						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				TATCTGACCTCACAGTTCTAT	0.657		NaN											0	0	0	0.028581	0	12	137				
NTHL1	4913	broad.mit.edu	37	16	2094652	2094652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:2094652G>C	uc002col.1	-	3	547	c.528C>G	c.(526-528)ATC>ATG	p.I176M	NTHL1_uc002com.1_Missense_Mutation_p.I177M	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	176					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGACGGGGTAGATGAGCTTGC	0.682		NaN						BER_DNA_glycosylases					0	0	0	0.02938	0	5	70				
MEFV	4210	broad.mit.edu	37	16	3293384	3293384	+	Silent	SNP	C	C	T	rs104895095		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3293384C>T	uc002cun.1	-	10	2143	c.2103G>A	c.(2101-2103)GCG>GCA	p.A701A		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	701	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GAACGCTGGACGCCTGGTACT	0.517		NaN											0	0	0	0.024245	0	14	69				
ZNF75A	7627	broad.mit.edu	37	16	3367786	3367786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3367786G>C	uc002cut.3	+	6	1334	c.808G>C	c.(808-810)GAG>CAG	p.E270Q	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						CCACACAGGTGAGCAGCCATA	0.453		NaN											0	0	0	0.049695	0	17	70				
ABCC6	368	broad.mit.edu	37	16	16276399	16276399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:16276399G>A	uc002den.3	-	17	2154	c.2117C>T	c.(2116-2118)TCT>TTT	p.S706F	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	706	ABC transporter 1.|Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCTACCACAGAGGTGTTCTG	0.577		NaN											0	0	0	0.080935	0	10	51				
ATP2A1	487	broad.mit.edu	37	16	28913966	28913966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:28913966C>G	uc002dro.1	+	18	2774	c.2590C>G	c.(2590-2592)CAT>GAT	p.H864D	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.H864D|ATP2A1_uc002drp.1_Missense_Mutation_p.H739D	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	864	Lumenal (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGATGGGCCTCATGTCAACTA	0.652		NaN											0	0	0	0.038395	0	14	54				
MAPK3	5595	broad.mit.edu	37	16	30129483	30129483	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:30129483A>T	uc002dws.2	-	4	645	c.545T>A	c.(544-546)ATT>AAT	p.I182N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.I68N|MAPK3_uc002dwv.3_Missense_Mutation_p.I182N|MAPK3_uc002dwt.2_Missense_Mutation_p.I182N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	182	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GAAATCACAAATCTGGAATCA	0.592		NaN											0	0	0	0.038147	0	5	38				
ITGAM	3684	broad.mit.edu	37	16	31341460	31341460	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:31341460C>A	uc002ebq.2	+	26	3133	c.3035C>A	c.(3034-3036)GCT>GAT	p.A1012D	ITGAM_uc002ebr.2_Missense_Mutation_p.A1013D|ITGAM_uc010can.2_Missense_Mutation_p.A418D	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1012	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GACTTTCTGGCTGAGCTTCGG	0.597		NaN											1	0	8.12818e-05	0.02938	8.59354e-05	6	22				
NOL3	8996	broad.mit.edu	37	16	67208978	67208978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:67208978G>A	uc010vjd.1	+	4	831	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	NOL3_uc010vjc.1_3'UTR|NOL3_uc002erp.2_3'UTR			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	213					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTGACAGGCGGTGCCCCGCC	0.612		NaN											0	0	0	0.069456	0	31	162				
NFATC3	4775	broad.mit.edu	37	16	68224692	68224692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:68224692G>A	uc002evo.1	+	9	2330	c.2120G>A	c.(2119-2121)AGA>AAA	p.R707K	NFATC3_uc010vkl.1_Missense_Mutation_p.R228K|NFATC3_uc010vkm.1_Missense_Mutation_p.R228K|NFATC3_uc010vkn.1_Missense_Mutation_p.R228K|NFATC3_uc010vko.1_Missense_Mutation_p.R228K|NFATC3_uc010vkp.1_Missense_Mutation_p.R228K|NFATC3_uc010vkq.1_Missense_Mutation_p.R228K|NFATC3_uc002evl.2_Missense_Mutation_p.R228K|NFATC3_uc002evk.2_Missense_Mutation_p.R707K|NFATC3_uc002evm.1_Missense_Mutation_p.R707K|NFATC3_uc002evn.1_Missense_Mutation_p.R707K|NFATC3_uc010vkr.1_Missense_Mutation_p.R228K|NFATC3_uc010vks.1_Missense_Mutation_p.R228K|NFATC3_uc010vkt.1_Missense_Mutation_p.R228K|NFATC3_uc010vku.1_Missense_Mutation_p.R228K|NFATC3_uc010vkv.1_Missense_Mutation_p.R228K|NFATC3_uc010vkw.1_Missense_Mutation_p.R228K|NFATC3_uc010vkx.1_Missense_Mutation_p.R228K|NFATC3_uc010vky.1_Missense_Mutation_p.R228K|NFATC3_uc010vkz.1_Missense_Mutation_p.R228K|NFATC3_uc010vla.1_Missense_Mutation_p.R228K|NFATC3_uc010vlb.1_Missense_Mutation_p.R228K|NFATC3_uc010vlc.1_Missense_Mutation_p.R228K	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	707					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAAGAACACAGAGAAGAGATT	0.388		NaN											0	0	0	0.02938	0	6	120				
AARS	16	broad.mit.edu	37	16	70299548	70299548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70299548G>A	uc002eyn.1	-	10	1350	c.1240C>T	c.(1240-1242)CTC>TTC	p.L414F	AARS_uc010vlu.1_Missense_Mutation_p.L244F	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	414					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.L414L(1)		pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTGTCATAGAGGAGCCAAGCA	0.507		NaN											0	0	0	0.105934	0	11	21				
SF3B3	23450	broad.mit.edu	37	16	70562947	70562947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70562947G>A	uc002ezf.2	+	3	453	c.242G>A	c.(241-243)GGC>GAC	p.G81D	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	81					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ATTGTAGTTGGCAGTGACTCT	0.458		NaN											0	0	0	0.09319	0	12	79				
ZC3H18	124245	broad.mit.edu	37	16	88694357	88694357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:88694357G>C	uc002fky.2	+	15	2499	c.2299G>C	c.(2299-2301)GAG>CAG	p.E767Q	ZC3H18_uc010voz.1_Missense_Mutation_p.E791Q|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.E37Q	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522		NaN											0	0	0	0.024245	0	13	75				
SPIRE2	84501	broad.mit.edu	37	16	89925754	89925754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:89925754G>C	uc002foz.1	+	9	1506	c.1454G>C	c.(1453-1455)CGA>CCA	p.R485P	SPIRE2_uc010civ.1_Missense_Mutation_p.R400P|SPIRE2_uc010ciw.1_Missense_Mutation_p.R485P|SPIRE2_uc002fpa.1_Missense_Mutation_p.R437P|SPIRE2_uc010cix.1_Missense_Mutation_p.R352P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	485					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCGGCTCCCGAGACCAGGGC	0.697		NaN											0	0	0	0.004672	0	2	14				
KIAA0664	23277	broad.mit.edu	37	17	2601720	2601720	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2601720G>A	uc002fuy.1	-	10	1403	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	KIAA0664_uc002fux.1_Silent_p.F371F	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	439							binding			breast(2)	2						CGTCCCCCCCGAAGTCCTTGT	0.622		NaN											0	0	0	0.105934	0	11	17				
KIAA0664	23277	broad.mit.edu	37	17	2603983	2603983	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2603983T>C	uc002fuy.1	-	8	1134	c.1048A>G	c.(1048-1050)ATT>GTT	p.I350V	KIAA0664_uc002fux.1_Missense_Mutation_p.I282V	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	350							binding			breast(2)	2						TGTCCAGGAATGTGCTCCTCA	0.662		NaN											0	0	0	0.014758	0	4	35				
ABHD15	116236	broad.mit.edu	37	17	27889911	27889911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:27889911C>T	uc002hed.1	-	2	1139	c.1075G>A	c.(1075-1077)GAC>AAC	p.D359N		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	359						extracellular region	carboxylesterase activity				0						ACGGGGTCGTCAGCACTGCAG	0.602		NaN											0	0	0	0.058154	0	9	69				
SUZ12	23512	broad.mit.edu	37	17	30315444	30315444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:30315444C>T	uc002hgs.2	+	10	1351	c.1129C>T	c.(1129-1131)CTT>TTT	p.L377F	SUZ12_uc002hgt.2_Missense_Mutation_p.L354F	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	377					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGCCAAACCTCTTGCCACTAG	0.413		NaN	T	JAZF1	endometrial stromal tumours								0	0	0	0.047766	0	8	41				
POLG2	11232	broad.mit.edu	37	17	62486958	62486958	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:62486958A>C	uc002jei.2	-	4	1007	c.924T>G	c.(922-924)GAT>GAG	p.D308E	POLG2_uc010deg.1_Missense_Mutation_p.D308E	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	308					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAAGTTCGTGATCTCCTAGGT	0.393		NaN											0	0	0	0.069234	0	9	101				
RGS9	8787	broad.mit.edu	37	17	63173909	63173909	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:63173909C>G	uc002jfe.2	+	9	752	c.642C>G	c.(640-642)GTC>GTG	p.V214V	RGS9_uc010dem.2_Silent_p.V214V|RGS9_uc002jfd.2_Silent_p.V214V|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	214					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CGAATGAAGTCAAGGTAAACC	0.493		NaN											0	0	0	0.064281	0	33	130				
BPTF	2186	broad.mit.edu	37	17	65907091	65907091	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:65907091C>A	uc002jgf.2	+	11	3152	c.3091C>A	c.(3091-3093)CAG>AAG	p.Q1031K	BPTF_uc002jge.2_Missense_Mutation_p.Q1157K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1157					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTAAATTGTCAGGAGAGTTC	0.383		NaN											1	0	0.000274275	0.047766	0.000287781	9	62				
TTYH2	94015	broad.mit.edu	37	17	72233573	72233573	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72233573C>G	uc002jkc.2	+	4	586	c.555C>G	c.(553-555)CTC>CTG	p.L185L	TTYH2_uc010wqw.1_Silent_p.L164L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	185	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TTGTTCAGCTCTCAGGACTGC	0.602		NaN											0	0	0	0.038147	0	6	83				
TMEM104	54868	broad.mit.edu	37	17	72781647	72781647	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72781647C>T	uc002jls.3	+	3	234	c.72C>T	c.(70-72)CTC>CTT	p.L24L	TMEM104_uc010wrf.1_Silent_p.L24L|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.L24L	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	24	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					TGTTTAACCTCATCGTGGGCA	0.572		NaN											0	0	0	0.069288	0	21	195				
TSEN54	283989	broad.mit.edu	37	17	73512921	73512921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:73512921C>T	uc002jof.1	+	2	184	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	CASKIN2_uc002joc.2_5'Flank|CASKIN2_uc002jod.2_5'Flank|TSEN54_uc002joe.1_Nonsense_Mutation_p.Q51*	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	51					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGCAGCTCAGGCCGAGCG	0.736		NaN											0	0	0	0.004672	0	3	15				
METRNL	284207	broad.mit.edu	37	17	81052039	81052039	+	Missense_Mutation	SNP	G	G	A	rs147805686		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:81052039G>A	uc002kgh.2	+	4	780	c.655G>A	c.(655-657)GAG>AAG	p.E219K	METRNL_uc002kgi.2_Missense_Mutation_p.E137K	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	219						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCACGAGCCTGAGCGGCAGGA	0.637		NaN											0	0	0	0.021553	0	4	167				
ZNF521	25925	broad.mit.edu	37	18	22807156	22807156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:22807156C>T	uc002kvk.2	-	4	973	c.726G>A	c.(724-726)ATG>ATA	p.M242I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M242I|ZNF521_uc002kvl.2_Missense_Mutation_p.M22I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	242					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTGTCCTTCATCTTCCAGT	0.527		NaN	T	PAX5	ALL								0	0	0	0.024245	0	16	59				
DSG1	1828	broad.mit.edu	37	18	28908201	28908201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:28908201G>C	uc002kwp.2	+	4	478	c.266G>C	c.(265-267)GGA>GCA	p.G89A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	89	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGCATCTCTGGAGTAGGAATT	0.388		NaN											0	0	0	0.0333	0	15	65				
RTTN	25914	broad.mit.edu	37	18	67816249	67816249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:67816249G>C	uc002lkp.2	-	17	2265	c.2197C>G	c.(2197-2199)CTG>GTG	p.L733V	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	733							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAGTTACCCAGAGGATCTTCT	0.368		NaN											0	0	0	0.076483	0	19	91				
MYO1F	4542	broad.mit.edu	37	19	8617036	8617036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:8617036C>G	uc002mkg.2	-	7	631	c.517G>C	c.(517-519)GAG>CAG	p.E173Q	MYO1F_uc002mkh.2_Missense_Mutation_p.E173Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E173Q	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	173	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						AACTGGATCTCAAAGTACTTG	0.557		NaN											0	0	0	0.058154	0	7	125				
LDLR	3949	broad.mit.edu	37	19	11213402	11213402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:11213402C>T	uc002mqk.3	+	3	421	c.253C>T	c.(253-255)CAG>TAG	p.Q85*	LDLR_uc010xlk.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xlo.1_Nonsense_Mutation_p.Q85*	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	85	Extracellular (Potential).|LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCATTCCTCAGTTCTGGAG	0.547		NaN											0	0	0	0.041601	0	27	125				
ZFP30	22835	broad.mit.edu	37	19	38126225	38126225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38126225C>T	uc002ogv.1	-	6	1733	c.1217G>A	c.(1216-1218)GGA>GAA	p.G406E	ZFP30_uc002ogw.1_Missense_Mutation_p.G406E|ZFP30_uc002ogx.1_Missense_Mutation_p.G406E|ZFP30_uc010xtt.1_Missense_Mutation_p.G405E	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTTTCTCTCCAATGTGAAT	0.388		NaN											0	0	0	0.069234	0	8	47				
ZNF781	163115	broad.mit.edu	37	19	38160986	38160986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38160986G>C	uc002ogy.2	-	4	806	c.64C>G	c.(64-66)CAA>GAA	p.Q22E	ZNF781_uc002ogz.2_Missense_Mutation_p.Q17E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTGATATTGAGTTAGTTGA	0.343		NaN											0	0	0	0.043863	0	17	123				
ZNF233	353355	broad.mit.edu	37	19	44778410	44778410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778410G>C	uc002oyz.1	+	5	1724	c.1597G>C	c.(1597-1599)GAG>CAG	p.E533Q	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E348Q	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				TCACAAAGGAGAGAAGCCATA	0.468		NaN											0	0	0	0.069234	0	8	59				
ZNF233	353355	broad.mit.edu	37	19	44778580	44778580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778580G>C	uc002oyz.1	+	5	1894	c.1767G>C	c.(1765-1767)GAG>GAC	p.E589D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E404D	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				ACACAGGAGAGAAACCATACA	0.438		NaN											0	0	0	0.004672	0	3	103				
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:50764812G>T	uc002prr.1	+	19	2429	c.2382G>T	c.(2380-2382)CAG>CAT	p.Q794H	MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	794	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647		NaN											1	0	2.0095e-06	0.02938	2.18287e-06	6	37				
ZIK1	284307	broad.mit.edu	37	19	58101415	58101415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:58101415C>T	uc002qpg.2	+	4	333	c.236C>T	c.(235-237)TCT>TTT	p.S79F	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.S24F|ZIK1_uc002qpi.2_Missense_Mutation_p.S66F|ZIK1_uc002qpj.2_5'UTR	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGACACCTTCTGACCAGAAT	0.458		NaN											0	0	0	0.047766	0	8	45				
GRHL1	29841	broad.mit.edu	37	2	10136044	10136044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:10136044G>A	uc002raa.2	+	13	1708	c.1537G>A	c.(1537-1539)GAC>AAC	p.D513N	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D324N|GRHL1_uc010yjb.1_Missense_Mutation_p.D362N	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	513					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CACAGAAGATGACTTTGCTGT	0.458		NaN											0	0	0	0.064281	0	30	202				
PLB1	151056	broad.mit.edu	37	2	28801013	28801013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:28801013G>A	uc002rmb.1	+	22	1473	c.1473G>A	c.(1471-1473)ATG>ATA	p.M491I	PLB1_uc010ezj.1_Missense_Mutation_p.M502I|PLB1_uc002rmc.2_Missense_Mutation_p.M179I|PLB1_uc002rmd.1_Missense_Mutation_p.M1I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	491	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGGACCTGATGAAGAATGACA	0.582		NaN											0	0	0	0.014758	0	4	58				
XDH	7498	broad.mit.edu	37	2	31572693	31572693	+	Missense_Mutation	SNP	C	C	T	rs138396004		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:31572693C>T	uc002rnv.1	-	26	2907	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	943					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTTTTTCTCCGCACCTTCCC	0.542		NaN											0	0	0	0.014758	0	4	54				
DYNC2LI1	51626	broad.mit.edu	37	2	44036863	44036863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036863G>C	uc002rtk.2	+	13	1109	c.1013G>C	c.(1012-1014)AGA>ACA	p.R338T	DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R339T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.R212T	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	338						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGTACAAAAGAAGTTCTTCC	0.284		NaN											0	0	0	0.058154	0	5	22				
DYNC2LI1	51626	broad.mit.edu	37	2	44036898	44036898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036898G>C	uc002rtk.2	+	13	1144	c.1048G>C	c.(1048-1050)GAT>CAT	p.D350H	DYNC2LI1_uc002rtl.2_Missense_Mutation_p.D351H|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.D224H	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	350						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATCGAGCTTGATTCTTGAAC	0.269		NaN											0	0	0	0.02938	0	3	13				
DYNC2LI1	51626	broad.mit.edu	37	2	44036905	44036905	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036905G>A	uc002rtk.2	+	13	1151	c.1055G>A	c.(1054-1056)TGA>TAA	p.*352*	DYNC2LI1_uc002rtl.2_Silent_p.*353*|DYNC2LI1_uc010ynz.1_Silent_p.*226*	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	352						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTGATTCTTGAACCTATTTC	0.274		NaN											0	0	0	0.02938	0	4	13				
ABCG5	64240	broad.mit.edu	37	2	44040419	44040419	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44040419G>A	uc002rtn.2	-	13	1932	c.1792C>T	c.(1792-1794)CCA>TCA	p.P598S	ABCG5_uc002rtm.2_Missense_Mutation_p.P203S|ABCG5_uc002rto.2_Missense_Mutation_p.P427S|ABCG5_uc002rtp.2_Missense_Mutation_p.P203S	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	598	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCACACATTGGATTAGTTGTC	0.338		NaN											0	0	0	0.080935	0	9	29				
SPTBN1	6711	broad.mit.edu	37	2	54876994	54876994	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:54876994G>A	uc002rxu.2	+	26	5694	c.5445G>A	c.(5443-5445)AAG>AAA	p.K1815K	SPTBN1_uc002rxx.2_Silent_p.K1802K|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1815	Interaction with ANK2.|Spectrin 15.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ACGATGCCAAGGAGATCTTTG	0.493		NaN											0	0	0	0.080935	0	11	51				
RAB11FIP5	26056	broad.mit.edu	37	2	73315528	73315528	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:73315528C>G	uc002siu.3	-	3	1459	c.1218G>C	c.(1216-1218)CTG>CTC	p.L406L	RAB11FIP5_uc002sit.3_Silent_p.L328L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CCTGAGCACTCAGCTCCTCCT	0.657		NaN											0	0	0	0.028581	0	14	53				
VWA3B	200403	broad.mit.edu	37	2	98744726	98744726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:98744726G>A	uc002syo.2	+	6	991	c.727G>A	c.(727-729)GTG>ATG	p.V243M	VWA3B_uc010yvh.1_Missense_Mutation_p.V93M|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V243M|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	243										ovary(3)|large_intestine(2)|skin(1)	6						CTACTTTGTGGTGGGGGATGT	0.498		NaN											0	0	0	0.045705	0	31	106				
TUBA3E	112714	broad.mit.edu	37	2	130951802	130951802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:130951802C>T	uc002tqv.2	-	4	714	c.613G>A	c.(613-615)GAC>AAC	p.D205N		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GCTTCATTGTCGACCATGAAG	0.552		NaN											0	0	0	0.09319	0	9	62				
LOC150786	150786	broad.mit.edu	37	2	132120876	132120876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132120876C>G	uc002tsr.2	-	1	856	c.418G>C	c.(418-420)GAG>CAG	p.E140Q		NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN	RAB6C-like	140					protein transport|small GTPase mediated signal transduction		GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.078)		CTCTCTCCCTCCTCAATTGAC	0.438		NaN											0	0	0	0.058154	0	9	231				
TUBA3D	113457	broad.mit.edu	37	2	132237879	132237879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132237879G>A	uc002tsu.3	+	4	720	c.613G>A	c.(613-615)GAC>AAC	p.D205N		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTTCATGGTCGACAATGAAGC	0.557		NaN											0	0	0	0.055883	0	8	130				
SCN1A	6323	broad.mit.edu	37	2	166848189	166848189	+	Missense_Mutation	SNP	C	C	A	rs121918815		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:166848189C>A	uc010zcz.1	-	26	5581	c.5563G>T	c.(5563-5565)GAT>TAT	p.D1855Y		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1866						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATAAGATATCAAGACAGTGG	0.483		NaN											1	0	2.17888e-05	0.058154	2.3303e-05	10	79				
PHOSPHO2	493911	broad.mit.edu	37	2	170557854	170557854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:170557854C>T	uc002ufg.2	+	4	761	c.373C>T	c.(373-375)CCA>TCA	p.P125S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	125							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						GTTTACAAATCCAGCAGCTTT	0.323		NaN											0	0	0	0.02938	0	6	34				
GAD1	2571	broad.mit.edu	37	2	171710417	171710417	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:171710417G>C	uc002ugi.2	+	14	1720	c.1298G>C	c.(1297-1299)GGA>GCA	p.G433A	GAD1_uc010fqc.2_Missense_Mutation_p.G52A	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	433					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGTGTGCAGGATACCTCTTC	0.483		NaN											0	0	0	0.038147	0	6	120				
TTN	7273	broad.mit.edu	37	2	179575377	179575377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:179575377G>A	uc010zfg.1	-	95	24939	c.24715C>T	c.(24715-24717)CAG>TAG	p.Q8239*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q4900*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9166							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCAGCTGAGCTGTGCAA	0.398		NaN											0	0	0	0.080935	0	10	110				
FRZB	2487	broad.mit.edu	37	2	183703267	183703267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:183703267G>C	uc002upa.1	-	4	885	c.667C>G	c.(667-669)CTA>GTA	p.L223V		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	223	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAGGACTTTAGAATCTCCTTC	0.433		NaN											0	0	0	0.069288	0	21	99				
COL5A2	1290	broad.mit.edu	37	2	189909924	189909924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:189909924G>C	uc002uqk.2	-	47	3619	c.3344C>G	c.(3343-3345)GCT>GGT	p.A1115G	COL5A2_uc010frx.2_Missense_Mutation_p.A691G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1115					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACGTTTCCCAGCTCGACCAGG	0.299		NaN											0	0	0	0.047766	0	5	27				
ORMDL1	94101	broad.mit.edu	37	2	190640311	190640311	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:190640311G>A	uc002urb.3	-	2	1093	c.306C>T	c.(304-306)TTC>TTT	p.F102F	ORMDL1_uc002urc.3_Silent_p.F102F|ORMDL1_uc002urd.3_Silent_p.F102F|ORMDL1_uc002ure.3_Silent_p.F102F|ORMDL1_uc002urf.3_Silent_p.F102F	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	ORM1-like 1	102	Helical; (Potential).				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GAGAAATTGTGAAAAACTTCC	0.383		NaN											0	0	0	0.014758	0	4	34				
SGOL2	151246	broad.mit.edu	37	2	201400832	201400832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:201400832G>C	uc002uvw.2	+	4	467	c.354G>C	c.(352-354)TTG>TTC	p.L118F	SGOL2_uc002uvv.3_Missense_Mutation_p.L118F|SGOL2_uc010zhd.1_Missense_Mutation_p.L118F|SGOL2_uc010zhe.1_Missense_Mutation_p.L118F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	118					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						ACAATAACTTGATAACTGCAA	0.294		NaN											0	0	0	0.038147	0	8	82				
GIGYF2	26058	broad.mit.edu	37	2	233655998	233655998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:233655998C>A	uc002vti.3	+	14	1461	c.1124C>A	c.(1123-1125)TCA>TAA	p.S375*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.S375*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.S369*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.S396*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.S375*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.S369*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.S206*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	375					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGACCTCATCATCATCTGCT	0.428		NaN											1	0	0.00074312	0.038395	0.000773851	14	62				
TBC1D20	128637	broad.mit.edu	37	20	422526	422526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:422526C>A	uc002wds.2	-	4	637	c.499G>T	c.(499-501)GAA>TAA	p.E167*	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	167	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GATAATTTTTCTACCAGGGAT	0.537		NaN											1	0	1.33987e-11	0.069234	1.51487e-11	6	92				
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:3211823G>T	uc002wig.2	-	8	1110	c.1062C>A	c.(1060-1062)TTC>TTA	p.F354L	SLC4A11_uc010zqe.1_Missense_Mutation_p.F381L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F338L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	354	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						GGTACAAGGGGAACCTGCGTG	0.602		NaN											1	0	1.5739e-10	0.028581	1.77223e-10	13	128				
GGTLC1	92086	broad.mit.edu	37	20	23966391	23966391	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:23966391G>T	uc002wts.2	-	5	577	c.444C>A	c.(442-444)GGC>GGA	p.G148G	GGTLC1_uc002wtu.2_Silent_p.G148G	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148							gamma-glutamyltransferase activity			ovary(1)	1						TCACGTCATAGCCGAACCAGA	0.612		NaN											1	0	4.45325e-31	0.048971	5.1613e-31	55	129				
TTLL9	164395	broad.mit.edu	37	20	30525290	30525290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:30525290C>A	uc010gdx.1	+	13	1349	c.1096C>A	c.(1096-1098)CAT>AAT	p.H366N	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.H268N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	366	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGACACCCTGCATGTTGTGGA	0.567		NaN											1	0	5.50884e-06	0.09319	5.93754e-06	11	40				
MYH7B	57644	broad.mit.edu	37	20	33586326	33586326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:33586326G>C	uc002xbi.1	+	32	4105	c.4013G>C	c.(4012-4014)CGC>CCC	p.R1338P		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1296	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGAGTCGCCTGCTAGAG	0.642		NaN											0	0	0	0.014758	0	4	43				
BPI	671	broad.mit.edu	37	20	36959492	36959492	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:36959492G>A	uc002xib.2	+	12	1346	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	428					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				GCCCCTTCCCGGTGAGTCTGA	0.572		NaN											0	0	0	0.047766	0	9	95				
RALGAPB	57148	broad.mit.edu	37	20	37182516	37182516	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182516G>C	uc002xiw.2	+	22	3426	c.3169G>C	c.(3169-3171)GAG>CAG	p.E1057Q	RALGAPB_uc002xix.2_Missense_Mutation_p.E1053Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E835Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1057					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						ACAGTTAGAAGAGAGACACGA	0.313		NaN											0	0	0	0.038147	0	7	20				
RALGAPB	57148	broad.mit.edu	37	20	37182716	37182716	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182716G>A	uc002xiw.2	+	22	3626	c.3369G>A	c.(3367-3369)CTG>CTA	p.L1123L	RALGAPB_uc002xix.2_Silent_p.L1119L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Silent_p.L901L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1123					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TAGAAGCACTGAAGGTAATTT	0.383		NaN											0	0	0	0.041601	0	25	69				
RBPJL	11317	broad.mit.edu	37	20	43940280	43940280	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:43940280G>A	uc002xns.2	+	4	381	c.309G>A	c.(307-309)GTG>GTA	p.V103V	RBPJL_uc002xnt.2_Silent_p.V103V	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	103					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGAGGGTGAAGCCAGGGC	0.642		NaN									OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.030593	0	26	37				
ADRM1	11047	broad.mit.edu	37	20	60878630	60878630	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:60878630G>A	uc002ycn.2	+	2	86	c.6G>A	c.(4-6)ACG>ACA	p.T2T	ADRM1_uc011aai.1_Silent_p.T2T|ADRM1_uc002yco.2_Silent_p.T2T|ADRM1_uc002ycp.1_5'Flank	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	2	Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TCAGGATGACGACCTCAGGCG	0.667		NaN											0	0	0	0.058154	0	9	108				
TIAM1	7074	broad.mit.edu	37	21	32617837	32617837	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:32617837G>A	uc002yow.1	-	7	2023	c.1551C>T	c.(1549-1551)CTC>CTT	p.L517L	TIAM1_uc011adk.1_Silent_p.L517L|TIAM1_uc011adl.1_Silent_p.L517L|TIAM1_uc002yox.1_Silent_p.L125L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	517	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGGAATTGCTGAGGCAGAAGA	0.522		NaN											0	0	0	0.09319	0	11	32				
PCNT	5116	broad.mit.edu	37	21	47850003	47850003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47850003G>A	uc002zji.3	+	36	7877	c.7770G>A	c.(7768-7770)GAG>GAA	p.E2590E	PCNT_uc002zjj.2_Silent_p.E2472E	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2590	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAGAGCAAGAGAAGGCAAACA	0.512		NaN											0	0	0	0.09319	0	11	37				
PCNT	5116	broad.mit.edu	37	21	47851509	47851509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851509G>A	uc002zji.3	+	38	8238	c.8131G>A	c.(8131-8133)GAG>AAG	p.E2711K	PCNT_uc002zjj.2_Missense_Mutation_p.E2593K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2711	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597		NaN											0	0	0	0.09319	0	12	55				
PCNT	5116	broad.mit.edu	37	21	47851760	47851760	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851760G>A	uc002zji.3	+	38	8489	c.8382G>A	c.(8380-8382)CTG>CTA	p.L2794L	PCNT_uc002zjj.2_Silent_p.L2676L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2794	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGCAGAAGCTGAAGGAGGAGA	0.612		NaN											0	0	0	0.069234	0	7	35				
SLC25A1	6576	broad.mit.edu	37	22	19164697	19164697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:19164697C>G	uc002zoz.2	-	5	577	c.462G>C	c.(460-462)CAG>CAC	p.Q154H	SLC25A1_uc002zoy.2_Missense_Mutation_p.Q51H|SLC25A1_uc002zpa.2_Missense_Mutation_p.Q102H	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	154	Solcar 2.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTGGGGAGGTCTGGTCGTGGA	0.602		NaN											0	0	0	0.105934	0	12	33				
MTMR3	8897	broad.mit.edu	37	22	30403279	30403279	+	Missense_Mutation	SNP	A	A	G	rs138787389	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30403279A>G	uc003agv.3	+	10	1176	c.848A>G	c.(847-849)AAT>AGT	p.N283S	MTMR3_uc003agu.3_Missense_Mutation_p.N283S|MTMR3_uc003agw.3_Missense_Mutation_p.N283S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	283	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACTTTCCCAATGGGGGAGAC	0.493		NaN											0	0	0	0.105934	0	10	42				
OSM	5008	broad.mit.edu	37	22	30659990	30659990	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30659990T>C	uc003ahb.2	-	3	693	c.641A>G	c.(640-642)GAG>GGG	p.E214G		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GTTCGGGCTCTCCCCCCACTT	0.642		NaN											0	0	0	0.009096	0	4	66				
BRD1	23774	broad.mit.edu	37	22	50192221	50192221	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:50192221G>A	uc003biv.2	-	4	2257	c.1770C>T	c.(1768-1770)CCC>CCT	p.P590P	BRD1_uc011arf.1_Silent_p.P185P|BRD1_uc011arg.1_Silent_p.P644P|BRD1_uc011arh.1_Silent_p.P590P|BRD1_uc003biu.3_Silent_p.P590P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	590	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGACTCACGGGCTGCGCAA	0.622		NaN											0	0	0	0.0333	0	14	70				
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:9482170G>A	uc003brt.2	+	8	1033	c.598G>A	c.(598-600)GAG>AAG	p.E200K	SETD5_uc003brs.1_Missense_Mutation_p.E181K|SETD5_uc003bru.2_Missense_Mutation_p.E102K|SETD5_uc003brv.2_Missense_Mutation_p.E89K|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	200										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433		NaN											0	0	0	0.02938	0	7	18				
WNT7A	7476	broad.mit.edu	37	3	13916516	13916516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:13916516G>A	uc003bye.1	-	2	531	c.226C>T	c.(226-228)CAG>TAG	p.Q76*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	76					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						TTGCGGAACTGAAACTGACAC	0.617		NaN											0	0	0	0.058154	0	9	59				
ZNF660	285349	broad.mit.edu	37	3	44636265	44636265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44636265G>C	uc003cnl.1	+	3	913	c.580G>C	c.(580-582)GAG>CAG	p.E194Q		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	194	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAAATGTAAGGAGTGTGGGAA	0.393		NaN											0	0	0	0.020292	0	14	56				
TGM4	7047	broad.mit.edu	37	3	44943347	44943347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44943347G>C	uc003coc.3	+	8	968	c.895G>C	c.(895-897)GAA>CAA	p.E299Q		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	299					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCACGACACAGAAAGGAACCT	0.542		NaN											0	0	0	0.080935	0	11	57				
AMIGO3	386724	broad.mit.edu	37	3	49756011	49756011	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756011C>T	uc003cxj.2	-	1	1228	c.888G>A	c.(886-888)CTG>CTA	p.L296L	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	296	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTAAAGCCTCAGGGACCGAC	0.652		NaN											0	0	0	0.014758	0	5	22				
AMIGO3	386724	broad.mit.edu	37	3	49756493	49756494	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756493_49756494CC>TT	uc003cxj.2	-	1	745_746	c.405_406GG>AA	c.(403-408)CTGGAG>CTAAAG	p.E136K	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	136	Extracellular (Potential).|LRR 4.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCAGCTTCTCCAGCGCCCCCA	0.634		NaN									OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	25	85				
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:93611862C>A	uc003drb.3	-	10	1411	c.1070G>T	c.(1069-1071)GGA>GTA	p.G357V	PROS1_uc010hoo.2_Missense_Mutation_p.G226V|PROS1_uc003dqz.3_Missense_Mutation_p.G226V	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	357	Laminin G-like 1.		G -> R (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCAATCTTTCCACCACGAAG	0.403		NaN											1	0	0.00198382	0.02938	0.00205044	7	66				
C3orf26	84319	broad.mit.edu	37	3	99881261	99881261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:99881261G>A	uc003dtl.2	+	4	483	c.340G>A	c.(340-342)GAA>AAA	p.E114K		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	114							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						TGAATTAGAAGAACTGAACCT	0.408		NaN											0	0	0	0.047766	0	7	30				
HHLA2	11148	broad.mit.edu	37	3	108076964	108076964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:108076964C>G	uc003dwy.3	+	6	1126	c.959C>G	c.(958-960)TCT>TGT	p.S320C	HHLA2_uc011bhl.1_Missense_Mutation_p.S256C|HHLA2_uc010hpu.2_Missense_Mutation_p.S320C|HHLA2_uc003dwz.2_Missense_Mutation_p.S320C	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	320	Ig-like V-type 2.					integral to membrane				ovary(1)	1						TGCAATATTTCTTCGGATGAA	0.378		NaN											0	0	0	0.004672	0	3	63				
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:121980624G>A	uc003eev.3	+	4	1114	c.742G>A	c.(742-744)GAT>AAT	p.D248N	CASR_uc003eew.3_Missense_Mutation_p.D248N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	248	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502		NaN											0	0	0	0.038147	0	5	207				
SEMA5B	54437	broad.mit.edu	37	3	122667459	122667459	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:122667459G>A	uc003efz.1	-	3	526	c.222C>T	c.(220-222)CTC>CTT	p.L74L	SEMA5B_uc011bju.1_Silent_p.L16L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L74L|SEMA5B_uc010hro.1_Silent_p.L16L|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	74	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCAGCAGTGTGAGGCTGGGCA	0.647		NaN											0	0	0	0.069234	0	10	29				
PLXND1	23129	broad.mit.edu	37	3	129290522	129290522	+	Silent	SNP	G	G	C	rs111780083		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:129290522G>C	uc003emx.2	-	16	3343	c.3243C>G	c.(3241-3243)GTC>GTG	p.V1081V		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1081	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGTCTCACCTGACAGGGCTGC	0.657		NaN											0	0	0	0.076483	0	19	95				
DBR1	51163	broad.mit.edu	37	3	137888979	137888979	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:137888979C>G	uc003erv.2	-	4	595	c.459G>C	c.(457-459)GTG>GTC	p.V153V	DBR1_uc003eru.2_Silent_p.V102V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	153						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CAATATTTCTCACATGATATA	0.299		NaN											0	0	0	0.09319	0	12	77				
YEATS2	55689	broad.mit.edu	37	3	183442274	183442274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:183442274C>T	uc003fly.2	+	6	800	c.605C>T	c.(604-606)TCA>TTA	p.S202L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	202					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATGAGACTTCACGACTTTTT	0.343		NaN											0	0	0	0.021553	0	6	39				
MFSD10	10227	broad.mit.edu	37	4	2934873	2934873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934873G>C	uc003gfw.2	-	3	646	c.332C>G	c.(331-333)TCT>TGT	p.S111C	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Missense_Mutation_p.S111C|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.S111C|MFSD10_uc003ggb.1_Missense_Mutation_p.S111C|MFSD10_uc003ggc.2_Missense_Mutation_p.S111C|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	111					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGCAGTCAGAGGTGGCCCC	0.632		NaN											0	0	0	0.038147	0	5	28				
MFSD10	10227	broad.mit.edu	37	4	2934901	2934901	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934901G>A	uc003gfw.2	-	3	618	c.304C>T	c.(304-306)CTG>TTG	p.L102L	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.L102L|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.L102L|MFSD10_uc003ggb.1_Silent_p.L102L|MFSD10_uc003ggc.2_Silent_p.L102L|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	102	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCGCACACAGAAACTGCAGG	0.617		NaN											0	0	0	0.009096	0	3	31				
SHISA3	152573	broad.mit.edu	37	4	42403249	42403249	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:42403249G>C	uc003gwp.2	+	2	716	c.498G>C	c.(496-498)ACG>ACC	p.T166T		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	166	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						GCACAGCCACGAGCTCCAGCT	0.672		NaN											0	0	0	0.028581	0	16	116				
FAT4	79633	broad.mit.edu	37	4	126237764	126237764	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:126237764G>C	uc003ifj.3	+	1	198	c.198G>C	c.(196-198)ACG>ACC	p.T66T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	66	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCATCCAGACGCGCCCCGGCT	0.647		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	4	30				
TAS2R1	50834	broad.mit.edu	37	5	9629539	9629539	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:9629539C>T	uc003jem.1	-	1	925	c.606G>A	c.(604-606)GGG>GGA	p.G202G		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	202	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						GGGTGTGCCTCCCCAGAGAGA	0.502		NaN											0	0	0	0.069234	0	10	31				
UGT3A2	167127	broad.mit.edu	37	5	36049133	36049133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049133C>G	uc003jjz.1	-	4	794	c.701G>C	c.(700-702)AGG>ACG	p.R234T	UGT3A2_uc011cos.1_Missense_Mutation_p.R200T|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	234	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.418		NaN											0	0	0	0.0918	0	22	83				
UGT3A2	167127	broad.mit.edu	37	5	36049523	36049523	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049523C>T	uc003jjz.1	-	4	405	c.312_splice	c.e4-1	p.R104_splice	UGT3A2_uc011cos.1_Splice_Site_p.R70_splice|UGT3A2_uc011cot.1_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2							integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATTTTCCTCTGTAAGAAAA	0.284		NaN											0	0	0	0.014758	0	5	22				
HCN1	348980	broad.mit.edu	37	5	45303768	45303768	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:45303768G>A	uc003jok.2	-	6	1576	c.1551C>T	c.(1549-1551)CAC>CAT	p.H517H		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	517	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CAGCAACACCGTGTTGAATGA	0.388		NaN											0	0	0	0.02938	0	7	69				
ITGA2	3673	broad.mit.edu	37	5	52361774	52361774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:52361774C>T	uc003joy.2	+	15	2053	c.1910C>T	c.(1909-1911)TCT>TTT	p.S637F	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S561F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	637	FG-GAP 7.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACCGATGTGTCTATTGGTGCC	0.458		NaN											0	0	0	0.108266	0	21	91				
APC	324	broad.mit.edu	37	5	112176224	112176224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:112176224G>C	uc010jby.2	+	16	5313	c.4933G>C	c.(4933-4935)GAA>CAA	p.E1645Q	APC_uc011cvt.1_Missense_Mutation_p.E1627Q|APC_uc003kpz.3_Missense_Mutation_p.E1645Q|APC_uc003kpy.3_Missense_Mutation_p.E1645Q|APC_uc010jbz.2_Missense_Mutation_p.E1362Q|APC_uc010jca.2_Missense_Mutation_p.E945Q	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1645Q(1)|p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTATTGTGTTGAAGGGACACC	0.453		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.004672	0	3	73		Valid		
GRAMD3	65983	broad.mit.edu	37	5	125813438	125813438	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:125813438C>A	uc003ktu.2	+	6	971	c.541C>A	c.(541-543)CTA>ATA	p.L181I	GRAMD3_uc011cwt.1_Missense_Mutation_p.L196I|GRAMD3_uc011cwv.1_Missense_Mutation_p.L189I|GRAMD3_uc011cww.1_Missense_Mutation_p.L77I|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.L72I|GRAMD3_uc011cwz.1_Missense_Mutation_p.L165I|GRAMD3_uc011cwu.1_Missense_Mutation_p.L165I	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	181										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AACTGCTCTTCTAGTGCCAAA	0.478		NaN											1	0	3.28513e-13	0.0918	3.76025e-13	21	68				
GDF9	2661	broad.mit.edu	37	5	132198223	132198223	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:132198223T>C	uc003kxz.1	-	2	675	c.423A>G	c.(421-423)CTA>CTG	p.L141L	GDF9_uc011cxj.1_Silent_p.L53L	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	141					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGTTAAATAGCAGTTCCA	0.383		NaN											0	0	0	0.069234	0	11	29				
SEC24A	10802	broad.mit.edu	37	5	134023941	134023941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:134023941C>T	uc003kzs.2	+	11	1963	c.1675C>T	c.(1675-1677)CAG>TAG	p.Q559*	SEC24A_uc011cxu.1_Nonsense_Mutation_p.Q323*	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	559					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACGGTCTTCAGGAAAGTCT	0.313		NaN											0	0	0	0.024245	0	13	41				
PCDHA2	56146	broad.mit.edu	37	5	140175188	140175188	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140175188G>T	uc003lhd.2	+	1	745	c.639G>T	c.(637-639)GTG>GTT	p.V213V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.V213V|PCDHA2_uc011czy.1_Silent_p.V213V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	213	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTACTGGTGGCTACTGATG	0.428		NaN											1	0	7.92952e-12	0.0918	9.00196e-12	23	66				
PCDHGA9	56107	broad.mit.edu	37	5	140782758	140782758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782758G>T	uc003lkh.1	+	1	239	c.239G>T	c.(238-240)CGC>CTC	p.R80L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R80L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGCAGCGGCACC	0.612		NaN											1	0	0.00307968	0.038147	0.00317127	8	37				
PCDHGA9	56107	broad.mit.edu	37	5	140782853	140782853	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782853G>C	uc003lkh.1	+	1	334	c.334G>C	c.(334-336)GAC>CAC	p.D112H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.D112H	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	112	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTTGAAGACAGAGTGAA	0.507		NaN											0	0	0	0.049695	0	18	59				
SLIT3	6586	broad.mit.edu	37	5	168100246	168100246	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:168100246T>C	uc003mab.2	-	33	4197	c.3777A>G	c.(3775-3777)CCA>CCG	p.P1259P	SLIT3_uc010jjg.2_Silent_p.P1266P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1259	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCTCTTTGGAGTTCCTT	0.552		NaN											0	0	0	0.062417	0	19	60				
NSD1	64324	broad.mit.edu	37	5	176696618	176696618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:176696618G>C	uc003mfr.3	+	16	5457	c.5319G>C	c.(5317-5319)GAG>GAC	p.E1773D	NSD1_uc003mft.3_Missense_Mutation_p.E1504D|NSD1_uc003mfs.1_Missense_Mutation_p.E1670D|NSD1_uc011dfx.1_Missense_Mutation_p.E1421D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1773	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCAGCTGAGATCTGCCATC	0.433		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.004672	0	3	48		Valid		
COL23A1	91522	broad.mit.edu	37	5	177690246	177690246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:177690246G>A	uc003mje.2	-	9	960	c.602C>T	c.(601-603)ACT>ATT	p.T201I	COL23A1_uc010jkt.2_Silent_p.L49L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	201	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATCTTTCCCAGTGTCGCCAGG	0.647		NaN											0	0	0	0.069234	0	7	27				
FOXF2	2295	broad.mit.edu	37	6	1390560	1390560	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390560C>A	uc003mtm.2	+	1	492	c.378C>A	c.(376-378)ATC>ATA	p.I126I	FOXF2_uc003mtn.2_Silent_p.I126I	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	126	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCAGCGAGATCTACCAGTTCC	0.647		NaN											1	0	5.18039e-06	0.038147	5.60535e-06	8	28				
FOXF2	2295	broad.mit.edu	37	6	1390569	1390569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390569C>A	uc003mtm.2	+	1	501	c.387C>A	c.(385-387)TTC>TTA	p.F129L	FOXF2_uc003mtn.2_Missense_Mutation_p.F129L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	129	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCTACCAGTTCCTGCAGGCGC	0.632		NaN											1	0	3.59834e-05	0.021553	3.81892e-05	6	29				
MAK	4117	broad.mit.edu	37	6	10796367	10796367	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:10796367T>G	uc003mzl.2	-	8	1236	c.1007A>C	c.(1006-1008)CAG>CCG	p.Q336P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q336P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	336	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTTTGGCTGGGGTTGTCC	0.502		NaN											0	0	0	0.047766	0	9	77				
BTN3A3	10384	broad.mit.edu	37	6	26443857	26443857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:26443857T>C	uc003nhz.2	+	3	235	c.55T>C	c.(55-57)TTC>CTC	p.F19L	BTN3A3_uc003nia.2_Intron|BTN3A3_uc011dkn.1_Intron	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	19						integral to membrane					0						TGTCTCCCTCTTCTTGGTCCA	0.428		NaN											0	0	0	0.021553	0	5	52				
OR14J1	442191	broad.mit.edu	37	6	29274561	29274561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:29274561C>T	uc011dln.1	+	1	95	c.95C>T	c.(94-96)ACA>ATA	p.T32I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTCTGGTGACATACCTGCTG	0.438		NaN											0	0	0	0.020292	0	12	71				
RDBP	7936	broad.mit.edu	37	6	31922347	31922347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922347C>G	uc003nyk.2	-	7	931	c.727G>C	c.(727-729)GAG>CAG	p.E243Q	RDBP_uc011dot.1_Missense_Mutation_p.E213Q|RDBP_uc003nyl.1_Missense_Mutation_p.E183Q|RDBP_uc003nym.1_Missense_Mutation_p.E238Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	243	30 X 2 AA approximate tandem repeats of R-[DSNE].|30.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AAAGGACCCtctcggtctcgg	0.239		NaN											0	0	0	0.058154	0	10	50				
RDBP	7936	broad.mit.edu	37	6	31922614	31922614	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922614C>G	uc003nyk.2	-	7	664	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.E94Q|RDBP_uc003nym.1_Missense_Mutation_p.E149Q	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	154					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CCTGGGCCCTCTGCCTCTTCT	0.577		NaN											0	0	0	0.041601	0	22	133				
TNXB	7148	broad.mit.edu	37	6	32015617	32015617	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:32015617C>T	uc003nzl.2	-	30	10414	c.10212G>A	c.(10210-10212)CGG>CGA	p.R3404R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3451	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGTGACCTCCCGCTGGTTGG	0.602		NaN											0	0	0	0.009096	0	4	15				
TAPBP	6892	broad.mit.edu	37	6	33271748	33271748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:33271748C>T	uc003odx.1	-	7	1490	c.1319G>A	c.(1318-1320)TGC>TAC	p.C440Y	TAPBP_uc010jus.1_Missense_Mutation_p.C458Y|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.C440Y|TAPBP_uc010jut.1_Missense_Mutation_p.C353Y	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	440	Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						TGAATCCTTGCAGGTGGACAG	0.483		NaN											0	0	0	0.028581	0	14	83				
FANCE	2178	broad.mit.edu	37	6	35426107	35426107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35426107C>T	uc003oko.1	+	5	1188	c.1003C>T	c.(1003-1005)CAG>TAG	p.Q335*	FANCE_uc010jvw.1_Nonsense_Mutation_p.Q328*	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	335	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						GCAGCTCCCTCAGCTCTCAGA	0.602		NaN	N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.048971	0	43	146				
SLC26A8	116369	broad.mit.edu	37	6	35923092	35923092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35923092G>C	uc003olm.2	-	17	2180	c.2069C>G	c.(2068-2070)TCA>TGA	p.S690*	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S272*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S690*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S585*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	690	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						GCTGTTTCTTGATGAGTTATT	0.512		NaN											0	0	0	0.009096	0	4	60				
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:36098379A>G	uc003ols.2	+	1	118	c.20A>G	c.(19-21)AAG>AGG	p.K7R	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	7					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						ATCCGGAAAAAGGGCTTCTAC	0.617		NaN											0	0	0	0.004672	0	2	10				
NCR2	9436	broad.mit.edu	37	6	41304071	41304071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41304071G>C	uc003oqh.2	+	2	386	c.299G>C	c.(298-300)AGA>ACA	p.R100T	NCR2_uc003oqi.2_Missense_Mutation_p.R100T|NCR2_uc003oqj.2_Missense_Mutation_p.R100T	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	100	Extracellular (Potential).|Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGATCTGAGAGAGGAAGAC	0.517		NaN											0	0	0	0.014758	0	3	72				
FRS3	10817	broad.mit.edu	37	6	41738604	41738604	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41738604G>T	uc003orc.1	-	7	1476	c.1232C>A	c.(1231-1233)CCC>CAC	p.P411H		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	411					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCCTTGGGGGCTCGGGCCC	0.687		NaN											1	0	7.48243e-07	0.058154	8.15997e-07	9	30				
CUL9	23113	broad.mit.edu	37	6	43181255	43181255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:43181255C>T	uc003ouk.2	+	28	5513	c.5438C>T	c.(5437-5439)TCA>TTA	p.S1813L	CUL9_uc003oul.2_Missense_Mutation_p.S1813L|CUL9_uc010jyk.2_Missense_Mutation_p.S965L|CUL9_uc003oun.2_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1813					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCCCTCACCTCAGGGAATGGC	0.632		NaN											0	0	0	0.09319	0	12	65				
CYP39A1	51302	broad.mit.edu	37	6	46607286	46607286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607286C>A	uc003oyf.1	-	3	637	c.433G>T	c.(433-435)GAA>TAA	p.E145*	CYP39A1_uc011dwa.1_Nonsense_Mutation_p.E125*|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	145					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TCCAGTTGTTCATGTAATTCT	0.363		NaN											1	0	2.17888e-05	0.058154	2.3303e-05	9	82				
CYP39A1	51302	broad.mit.edu	37	6	46607298	46607298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607298C>T	uc003oyf.1	-	3	625	c.421G>A	c.(421-423)GAA>AAA	p.E141K	CYP39A1_uc011dwa.1_Missense_Mutation_p.E121K|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	141					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TGTAATTCTTCAGTCAGTTGC	0.378		NaN											0	0	0	0.038147	0	7	75				
SIM1	6492	broad.mit.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:100911253G>A	uc003pqj.3	-	1	299	c.92C>T	c.(91-93)TCG>TTG	p.S31L	SIM1_uc010kcu.2_Missense_Mutation_p.S31L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	31	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458		NaN											0	0	0	0.0333	0	16	80				
NT5DC1	221294	broad.mit.edu	37	6	116436852	116436852	+	Splice_Site	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:116436852A>G	uc003pwj.2	+	5	460	c.365_splice	c.e5-2	p.G122_splice	NT5DC1_uc003pwk.2_Splice_Site_p.G122_splice|NT5DC1_uc003pwl.2_Splice_Site_p.G72_splice	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein								hydrolase activity|metal ion binding				0		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GTTCTTTTTTAGGAAAGTATT	0.368		NaN											0	0	0	0.047766	0	8	20				
IL20RA	53832	broad.mit.edu	37	6	137330458	137330458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:137330458C>T	uc003qhj.2	-	4	1008	c.575G>A	c.(574-576)AGA>AAA	p.R192K	IL20RA_uc011edl.1_Missense_Mutation_p.R143K|IL20RA_uc003qhk.2_Missense_Mutation_p.R81K|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	192	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTTACCGTTCTGTTTGATTT	0.403		NaN											0	0	0	0.024245	0	14	91				
TXLNB	167838	broad.mit.edu	37	6	139583802	139583802	+	Missense_Mutation	SNP	C	C	G	rs140293549		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:139583802C>G	uc011eds.1	-	5	961	c.796G>C	c.(796-798)GAG>CAG	p.E266Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	266	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATATTTCGCTCACTCTGCTGC	0.502		NaN											0	0	0	0.055883	0	17	57				
SF3B5	83443	broad.mit.edu	37	6	144416498	144416498	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:144416498T>C	uc003qkr.1	-	1	257	c.137A>G	c.(136-138)CAC>CGC	p.H46R		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	SF3b10	46					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex					0				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		AAGGTCGAAGTGGCCCATGTA	0.572		NaN											0	0	0	0.062417	0	20	68				
FNDC1	84624	broad.mit.edu	37	6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:159654497C>T	uc010kjv.2	+	11	3153	c.2953C>T	c.(2953-2955)CGG>TGG	p.R985W	FNDC1_uc010kjw.1_Missense_Mutation_p.R870W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677		NaN											0	0	0	0.004672	0	3	14				
SNX13	23161	broad.mit.edu	37	7	17879515	17879515	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:17879515C>T	uc003stw.1	-	13	1487	c.1274G>A	c.(1273-1275)AGA>AAA	p.R425K	SNX13_uc003stv.2_Missense_Mutation_p.R425K|SNX13_uc010kuc.2_Missense_Mutation_p.R222K			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	425	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTCCATCTCTCTGACGACT	0.413		NaN											0	0	0	0.021553	0	6	34				
ELMO1	9844	broad.mit.edu	37	7	37252967	37252967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:37252967C>T	uc003tfk.1	-	12	1234	c.927G>A	c.(925-927)ATG>ATA	p.M309I	ELMO1_uc011kbc.1_Missense_Mutation_p.M213I|ELMO1_uc010kxg.1_Missense_Mutation_p.M309I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	309					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TTTTGGTCATCATCCTGTCTT	0.498		NaN											0	0	0	0.080935	0	11	71				
SLC26A4	5172	broad.mit.edu	37	7	107329646	107329646	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:107329646G>A	uc003vep.2	+	9	1373	c.1149_splice	c.e9+1	p.Q383_splice	SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TGGGAACCAGGTATGGGTGCC	0.433		NaN							Pendred_syndrome				0	0	0	0.049695	0	18	105				
CADPS2	93664	broad.mit.edu	37	7	122130270	122130270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:122130270C>A	uc010lkp.2	-	11	1880	c.1717G>T	c.(1717-1719)GAT>TAT	p.D573Y	CADPS2_uc003vkg.3_Missense_Mutation_p.D273Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D573Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	573	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TGTTCATCATCACTGGCAAAG	0.388		NaN											1	0	1.26484e-09	0.038147	1.40708e-09	6	133				
CSMD3	114788	broad.mit.edu	37	8	113353795	113353795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353795G>C	uc003ynu.2	-	42	6722	c.6563C>G	c.(6562-6564)TCT>TGT	p.S2188C	CSMD3_uc003yns.2_Missense_Mutation_p.S1390C|CSMD3_uc003ynt.2_Missense_Mutation_p.S2148C|CSMD3_uc011lhx.1_Missense_Mutation_p.S2084C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2188	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GAATAAGGAAGATGGTATTTG	0.368		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.076483	0	20	87				
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353910G>A	uc003ynu.2	-	42	6607	c.6448C>T	c.(6448-6450)CAT>TAT	p.H2150Y	CSMD3_uc003yns.2_Missense_Mutation_p.H1352Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2150	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AACTGGAGATGTACACCTGAA	0.343		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.014758	0	5	19				
ATAD2	29028	broad.mit.edu	37	8	124383930	124383930	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:124383930C>A	uc003yqh.3	-	4	624	c.516G>T	c.(514-516)CTG>CTT	p.L172L	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.L172L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTGTCAAACAGCATGGACT	0.363		NaN											1	0	1.76689e-08	0.058154	1.94992e-08	7	48				
PHF20L1	51105	broad.mit.edu	37	8	133851656	133851656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:133851656G>A	uc003ytt.2	+	18	2541	c.2216G>A	c.(2215-2217)CGT>CAT	p.R739H	PHF20L1_uc011lja.1_Missense_Mutation_p.R713H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	739							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAAAATATCGTTATGATAAG	0.368		NaN											0	0	0	0.076483	0	20	113				
FAM135B	51059	broad.mit.edu	37	8	139163874	139163874	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:139163874C>A	uc003yuy.2	-	13	3015	c.2844G>T	c.(2842-2844)AGG>AGT	p.R948S	FAM135B_uc003yux.2_Missense_Mutation_p.R849S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R510S|FAM135B_uc003yvb.2_Missense_Mutation_p.R510S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	948										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTTGAGTTCCTGTTGATGG	0.488		NaN								HNSCC(54;0.14)			1	0	1.75199e-13	0.034045	2.01369e-13	29	114				
FAM83H	286077	broad.mit.edu	37	8	144811408	144811408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:144811408T>C	uc003yzk.2	-	3	602	c.533A>G	c.(532-534)TAC>TGC	p.Y178C	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	178					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGCAGGATGTAGACTGGGAC	0.632		NaN											0	0	0	0.099896	0	24	99				
SMARCA2	6595	broad.mit.edu	37	9	2088542	2088542	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:2088542C>A	uc003zhc.2	+	19	2911	c.2812C>A	c.(2812-2814)CTA>ATA	p.L938I	SMARCA2_uc003zhd.2_Missense_Mutation_p.L938I|SMARCA2_uc010mha.2_Missense_Mutation_p.L871I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	938					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATCAGGCGTCTACATAAGGT	0.343		NaN											1	0	9.70103e-10	0.069234	1.08354e-09	9	78		Valid		
CNTLN	54875	broad.mit.edu	37	9	17502622	17502622	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:17502622A>T	uc003zmy.2	+	26	4219	c.4193A>T	c.(4192-4194)TAT>TTT	p.Y1398F	CNTLN_uc010mio.2_3'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	Error:Variant_position_missing_in_Q9NXG0_after_alignment						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTGAAGGATATTTCACAATT	0.279		NaN											0	0	0	0.009096	0	4	14				
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:26995683C>T	uc003zqh.2	-	5	1060	c.949G>A	c.(949-951)GAA>AAA	p.E317K	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	317	Cytoplasmic (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343		NaN											0	0	0	0.058154	0	9	67				
VPS13A	23230	broad.mit.edu	37	9	79959136	79959136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:79959136C>T	uc004akr.2	+	51	7354	c.7094C>T	c.(7093-7095)CCT>CTT	p.P2365L	VPS13A_uc004akp.3_Missense_Mutation_p.P2365L|VPS13A_uc004akq.3_Missense_Mutation_p.P2365L|VPS13A_uc004aks.2_Missense_Mutation_p.P2326L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2365					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGTGAAGATCCTCCCAAAAGG	0.303		NaN											0	0	0	0.038395	0	15	57				
FKBP15	23307	broad.mit.edu	37	9	115950730	115950730	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:115950730A>G	uc004bgs.2	-	13	1333	c.1215T>C	c.(1213-1215)ACT>ACC	p.T405T	FKBP15_uc010muu.1_Silent_p.T469T|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Silent_p.T337T|FKBP15_uc010mut.1_Silent_p.T273T|FKBP15_uc004bgt.2_Silent_p.T405T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	405					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						GGACGGACGGAGTCACCACAG	0.567		NaN											0	0	0	0.069234	0	9	53				
SURF1	6834	broad.mit.edu	37	9	136220672	136220672	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:136220672G>A	uc004cdh.1	-	5	479	c.447C>T	c.(445-447)GGC>GGT	p.G149G	SURF1_uc004cdg.1_Silent_p.G40G|SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	149					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGATGAGGCCGCCCTCCCGGG	0.612		NaN											0	0	0	0.009096	0	4	159				
RXRA	6256	broad.mit.edu	37	9	137293529	137293529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:137293529C>G	uc004cfb.2	+	2	242	c.80C>G	c.(79-81)TCC>TGC	p.S27C	RXRA_uc004cfa.1_Silent_p.L77L	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	27	Modulating (By similarity).			S->A: Increase in RARA-mediated transcriptional activity.|S->A: Abolishes phosphorylation. No change in increase of RARA-mediated transcriptional activity.	cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGGCGAGGCTCCATGGCTGCC	0.662		NaN											0	0	0	0.0918	0	25	54		Valid		
CNKSR2	22866	broad.mit.edu	37	X	21613156	21613156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:21613156G>A	uc004czx.1	+	16	1931	c.1895G>A	c.(1894-1896)CGC>CAC	p.R632H	CNKSR2_uc004czw.2_Missense_Mutation_p.R632H|CNKSR2_uc011mjn.1_Missense_Mutation_p.R583H|CNKSR2_uc011mjo.1_Missense_Mutation_p.R602H|CNKSR2_uc004czy.2_Missense_Mutation_p.R224H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	632	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AGTGAATGCCGCAAAAAATAG	0.323		NaN											0	0	0	0.058154	0	8	9				
RPGR	6103	broad.mit.edu	37	X	38156638	38156638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:38156638G>C	uc004ded.1	-	11	1481	c.1313C>G	c.(1312-1314)TCT>TGT	p.S438C	RPGR_uc004deb.2_Missense_Mutation_p.S438C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.S123C	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	438					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						AAAACAAGCAGAAAGGCCAAG	0.428		NaN											0	0	0	0.069234	0	10	20				
WDR45	11152	broad.mit.edu	37	X	48933234	48933234	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:48933234C>A	uc004dmk.1	-	8	867	c.695G>T	c.(694-696)CGC>CTC	p.R232L	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130L|WDR45_uc004dmj.1_Missense_Mutation_p.R193L|WDR45_uc004dml.1_Missense_Mutation_p.R233L|WDR45_uc004dmm.1_Missense_Mutation_p.R197L|WDR45_uc010nim.1_Missense_Mutation_p.R232L|WDR45_uc004dmn.1_Missense_Mutation_p.R123L|WDR45_uc004dmo.1_Missense_Mutation_p.R255L|WDR45_uc004dmp.1_Missense_Mutation_p.R233L	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	232					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGTGCCTCGGCGCAGCTCCAC	0.567		NaN											1	0	0.00448238	0.047766	0.00459859	7	17				
PJA1	64219	broad.mit.edu	37	X	68381656	68381656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:68381656C>T	uc004dxh.2	-	2	1712	c.1426G>A	c.(1426-1428)GAT>AAT	p.D476N	PJA1_uc011mpi.1_Missense_Mutation_p.D194N|PJA1_uc004dxg.2_Missense_Mutation_p.D288N|PJA1_uc004dxi.2_Missense_Mutation_p.D421N	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	476							zinc ion binding				0						GAATCATTATCCCCCTCACTG	0.478		NaN											0	0	0	0.021553	0	4	115				
GLA	2717	broad.mit.edu	37	X	100656704	100656704	+	Missense_Mutation	SNP	C	C	G	rs113419388		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:100656704C>G	uc004ehl.1	-	3	573	c.463G>C	c.(463-465)GAT>CAT	p.D155H	GLA_uc011mrj.1_Missense_Mutation_p.D155H	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	155					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	GTCTGGGCATCAATGTCGTAG	0.428		NaN											0	0	0	0.059317	0	29	42				
USP26	83844	broad.mit.edu	37	X	132162154	132162154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:132162154C>A	uc010nrm.1	-	6	565	c.95G>T	c.(94-96)AGA>ATA	p.R32I	USP26_uc011mvf.1_Missense_Mutation_p.R32I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	32					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTCTTTCTTTCCACTGC	0.368		NaN											1	0	0.00116845	0.021553	0.00121221	6	17				
HES4	57801	broad.mit.edu	37	1	934921	934921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:934921G>A	uc001aci.2	-	3	476	c.277C>T	c.(277-279)CGC>TGC	p.R93C	HES4_uc010nyc.1_Missense_Mutation_p.R119C	NM_021170	NP_066993	Q9HCC6	HES4_HUMAN	hairy and enhancer of split 4 isoform 2	93					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCACGCGACGCAGGCTC	0.736		NaN											0	0	0	0.004672	0	3	10				
SPEN	23013	broad.mit.edu	37	1	16261448	16261448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:16261448G>A	uc001axk.1	+	11	8917	c.8713G>A	c.(8713-8715)GAT>AAT	p.D2905N	SPEN_uc010obp.1_Missense_Mutation_p.D2864N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2905					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTGAAGGCCGATAGGCCATC	0.577		NaN											0	0	0	0.014323	0	18	19				
KIAA0090	23065	broad.mit.edu	37	1	19557916	19557916	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:19557916C>G	uc001bbo.2	-	16	1826	c.1783G>C	c.(1783-1785)GAG>CAG	p.E595Q	KIAA0090_uc001bbp.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E573Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	595	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATTCCCGACTCCTAAAATGAG	0.507		NaN											0	0	0	0.001168	0	5	13				
TMEM50A	23585	broad.mit.edu	37	1	25678151	25678151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:25678151G>T	uc001bke.2	+	4	391	c.241G>T	c.(241-243)GAT>TAT	p.D81Y	TMEM50A_uc010oeq.1_Missense_Mutation_p.D81Y|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	NM_014313	NP_055128	O95807	TM50A_HUMAN	small membrane protein 1	81						endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AGTCCGAGGTGATAGTTACAG	0.358		NaN											1	0	1.20466e-24	0.01441	1.30241e-24	44	46				
PTAFR	5724	broad.mit.edu	37	1	28476921	28476921	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28476921G>T	uc001bpl.2	-	2	739	c.612C>A	c.(610-612)TTC>TTA	p.F204L	PTAFR_uc001bpm.3_Missense_Mutation_p.F204L|PTAFR_uc009vte.2_Missense_Mutation_p.F204L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	204	Helical; Name=5; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTGCAGAAGAGGATGA	0.567		NaN											1	0	2.32078e-09	0.003163	2.42404e-09	15	13				
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	C	rs143590918		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28477482G>C	uc001bpl.2	-	2	178	c.51C>G	c.(49-51)CTC>CTG	p.L17L	PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17	Helical; Name=1; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527		NaN											0	0	0	0.007835	0	30	29				
ZMYM4	9202	broad.mit.edu	37	1	35851047	35851047	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:35851047C>G	uc001byt.2	+	10	1654	c.1574C>G	c.(1573-1575)TCA>TGA	p.S525*	ZMYM4_uc009vuu.2_Nonsense_Mutation_p.S493*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.S201*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.S264*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	525	MYM-type 4.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAATAGAAATCAGCCAAAATT	0.318		NaN											0	0	0	0.009718	0	29	50				
FAM176B	55194	broad.mit.edu	37	1	36788636	36788636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:36788636C>T	uc001cai.1	-	1	214	c.3G>A	c.(1-3)ATG>ATA	p.M1I	C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.M1I	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	hypothetical protein LOC55194	1						integral to membrane				pancreas(1)	1						GCGGGGCATCCATGCTGCTCT	0.687		NaN											0	0	0	0.013114	0	37	44				
HIVEP3	59269	broad.mit.edu	37	1	42041338	42041338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:42041338G>A	uc001cgz.3	-	5	6297	c.5084C>T	c.(5083-5085)TCC>TTC	p.S1695F	HIVEP3_uc001cha.3_Missense_Mutation_p.S1695F|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1695					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCTTCCGGGGAAACCAGTGA	0.542		NaN											0	0	0	0.013114	0	39	37				
NASP	4678	broad.mit.edu	37	1	46083736	46083736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:46083736G>A	uc001coi.1	+	15	2392	c.2290G>A	c.(2290-2292)GAG>AAG	p.E764K	NASP_uc001coh.1_Missense_Mutation_p.E766K|NASP_uc001coj.1_Missense_Mutation_p.E425K|NASP_uc010olr.1_Missense_Mutation_p.E700K|NASP_uc001col.1_Missense_Mutation_p.E272K	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	764	Potential.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTTCCAGGCTGAGAATCAGGC	0.517		NaN											0	0	0	0.00308	0	5	7				
RNF11	26994	broad.mit.edu	37	1	51736896	51736896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:51736896C>T	uc001csi.3	+	3	851	c.367C>T	c.(367-369)CTG>TTG	p.L123L		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	123	RING-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						CATCTATCACCTGGACTGTAT	0.473		NaN											0	0	0	0.013726	0	27	168				
ACOT11	26027	broad.mit.edu	37	1	55058277	55058277	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:55058277G>C	uc001cxm.1	+	4	452	c.370G>C	c.(370-372)GAG>CAG	p.E124Q	ACOT11_uc001cxj.1_Missense_Mutation_p.E2Q|ACOT11_uc001cxk.2_Missense_Mutation_p.E90Q|ACOT11_uc001cxl.1_Missense_Mutation_p.E124Q	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	124	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CTCCAGCATGGAGGTGTGTGG	0.597		NaN											0	0	0	0.006999	0	35	49				
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	G	rs114601020	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:60139745C>G	uc001czi.3	+	14	1664	c.1452C>G	c.(1450-1452)TCC>TCG	p.S484S	FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612		NaN											0	0	0	0.010504	0	15	28				
C1orf173	127254	broad.mit.edu	37	1	75037663	75037663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:75037663G>T	uc001dgg.2	-	14	3950	c.3731C>A	c.(3730-3732)GCA>GAA	p.A1244E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1244	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ATCTTTGGCTGCTAGCTCCTC	0.617		NaN											1	0	1.01871e-10	0.008871	1.0663e-10	15	40				
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:91778938G>A	uc001doa.3	-	30	3459	c.3359C>T	c.(3358-3360)TCA>TTA	p.S1120L	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328		NaN											0	0	0	0.001168	0	4	74				
FNDC7	163479	broad.mit.edu	37	1	109271379	109271379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:109271379C>T	uc001dvx.2	+	8	1495	c.1495C>T	c.(1495-1497)CAG>TAG	p.Q499*	FNDC7_uc010ova.1_Nonsense_Mutation_p.Q266*	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	500	Fibronectin type-III 6.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGGACTGTATCAGTGCAGCAG	0.542		NaN											0	0	0	0.005524	0	30	40				
IGSF3	3321	broad.mit.edu	37	1	117150798	117150798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117150798G>A	uc001egr.1	-	5	1693	c.988C>T	c.(988-990)CCT>TCT	p.P330S	IGSF3_uc001egq.1_Missense_Mutation_p.P330S|IGSF3_uc001egs.1_Missense_Mutation_p.P3S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	330	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACAGCGTTAGGACCCATGGTG	0.562		NaN											0	0	0	0.00245	0	11	13				
CD101	9398	broad.mit.edu	37	1	117556174	117556174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117556174G>A	uc010oxb.1	+	4	1046	c.988G>A	c.(988-990)GAT>AAT	p.D330N	CD101_uc009whd.2_Missense_Mutation_p.D330N|CD101_uc010oxc.1_Missense_Mutation_p.D330N|CD101_uc010oxd.1_Missense_Mutation_p.D268N	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	330	Ig-like C2-type 3.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGCTCACATTGATGCTGGTGG	0.493		NaN											0	0	0	0.008291	0	8	73				
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:145473612C>T	uc001enq.1	+	4	1577	c.284C>T	c.(283-285)TCG>TTG	p.S95L	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	95	ANK 3.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721		NaN											0	0	0	0.009535	0	29	16				
ZNF687	57592	broad.mit.edu	37	1	151261980	151261980	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:151261980C>G	uc001exq.2	+	5	2696	c.2598C>G	c.(2596-2598)CTC>CTG	p.L866L	ZNF687_uc009wmo.2_Silent_p.L866L|ZNF687_uc009wmp.2_Silent_p.L866L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	866	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCTCTGCTCTTTGCCCAAA	0.547		NaN											0	0	0	0.004878	0	33	70				
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:152187697G>A	uc001ezt.1	-	3	6484	c.6408C>T	c.(6406-6408)CAC>CAT	p.H2136H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2136					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557		NaN											0	0	0	0.01441	0	62	546				
ARHGEF2	9181	broad.mit.edu	37	1	155921970	155921970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:155921970G>A	uc001fmt.2	-	16	2159	c.2041C>T	c.(2041-2043)CGA>TGA	p.R681*	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.R653*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.R680*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.R725*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	681					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.N681S(1)		ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGCTCTCGGGGTGTCAAG	0.602		NaN											0	0	0	0.004482	0	8	63				
KCNJ10	3766	broad.mit.edu	37	1	160012277	160012277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160012277C>G	uc001fuw.1	-	2	196	c.46G>C	c.(46-48)GAA>CAA	p.E16Q		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	16	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCGGCTTTCTGTCTGAGTG	0.532		NaN											0	0	0	0.01441	0	142	30				
NCSTN	23385	broad.mit.edu	37	1	160322686	160322686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160322686G>A	uc001fvx.2	+	9	1130	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N	NCSTN_uc001fvy.2_Missense_Mutation_p.D316N|NCSTN_uc010pjf.1_Missense_Mutation_p.D198N|NCSTN_uc001fvz.2_Missense_Mutation_p.D116N|NCSTN_uc010pjg.1_Missense_Mutation_p.D78N	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	336	Extracellular (Potential).			DY->AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing.	amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAACTTTTGACTACATTGG	0.502		NaN											0	0	0	0.00632	0	22	132				
DDR2	4921	broad.mit.edu	37	1	162745932	162745932	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:162745932C>G	uc001gcf.2	+	17	2520	c.2055C>G	c.(2053-2055)ACC>ACG	p.T685T	DDR2_uc001gcg.2_Silent_p.T685T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	685	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAGTTACACCAATCTGAAGT	0.413		NaN											0	0	0	0.01441	0	231	61				
ZBTB41	360023	broad.mit.edu	37	1	197169253	197169253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:197169253C>G	uc001gtx.1	-	1	420	c.351G>C	c.(349-351)TTG>TTC	p.L117F	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	117	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GATTTTTGCTCAAACACGCAT	0.358		NaN											0	0	0	0.01441	0	60	26				
PCNXL2	80003	broad.mit.edu	37	1	233136233	233136233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:233136233C>T	uc001hvl.2	-	30	5381	c.5146G>A	c.(5146-5148)GAG>AAG	p.E1716K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E368K|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1716						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATGGCCTCGTAGAGGACT	0.612		NaN											0	0	0	0.00308	0	7	7				
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237806719C>T	uc001hyl.1	+	48	7434	c.7314C>T	c.(7312-7314)ATC>ATT	p.I2438I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2438	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438		NaN											0	0	0	0.011902	0	42	34				
RYR2	6262	broad.mit.edu	37	1	237947553	237947553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237947553G>A	uc001hyl.1	+	90	12661	c.12541G>A	c.(12541-12543)GGA>AGA	p.G4181R	RYR2_uc010pya.1_Missense_Mutation_p.G596R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4181					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGAAGGCGGAGAGAAAGA	0.502		NaN											0	0	0	0.00308	0	6	76				
IDI2	91734	broad.mit.edu	37	10	1070566	1070566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:1070566G>A	uc001ifv.1	-	2	163	c.98C>T	c.(97-99)GCC>GTC	p.A33V	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTTGGTGTCGGCACCAATAAC	0.478		NaN											0	0	0	0.004672	0	3	43				
C10orf71	118461	broad.mit.edu	37	10	50532111	50532111	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:50532111G>A	uc010qgp.1	+	3	1860	c.1521G>A	c.(1519-1521)CGG>CGA	p.R507R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	507											0						AGGACGTGCGGAAGCGTGTTA	0.488		NaN											0	0	0	0.010729	0	7	17				
TFAM	7019	broad.mit.edu	37	10	60148581	60148581	+	Splice_Site	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:60148581T>G	uc001jkf.2	+	4	573	c.441_splice	c.e4+2	p.K147_splice	TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.K147_splice	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor						DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAAAAAAAAGTGAGTATCATT	0.269		NaN											0	0	0	0.010729	0	8	19				
JMJD1C	221037	broad.mit.edu	37	10	64968350	64968350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968350G>A	uc001jmn.2	-	10	3379	c.3079C>T	c.(3079-3081)CAA>TAA	p.Q1027*	JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q808*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q739*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q64*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1027					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACTTTCTTGAAGAATTCGA	0.418		NaN											0	0	0	0.009535	0	30	72				
JMJD1C	221037	broad.mit.edu	37	10	64968353	64968353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968353G>A	uc001jmn.2	-	10	3376	c.3076C>T	c.(3076-3078)CTT>TTT	p.L1026F	JMJD1C_uc001jml.2_Missense_Mutation_p.L807F|JMJD1C_uc001jmm.2_Missense_Mutation_p.L738F|JMJD1C_uc010qiq.1_Missense_Mutation_p.L844F|JMJD1C_uc009xpi.2_Missense_Mutation_p.L844F|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L63F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1026					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTTCTTGAAGAATTCGACGG	0.423		NaN											0	0	0	0.012213	0	31	69				
PBLD	64081	broad.mit.edu	37	10	70044041	70044041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:70044041G>A	uc001jns.1	-	10	963	c.760C>T	c.(760-762)CAG>TAG	p.Q254*	PBLD_uc001jnr.1_Nonsense_Mutation_p.Q221*|PBLD_uc001jnt.1_Nonsense_Mutation_p.Q254*	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	254					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TGGGAACACTGAAAAGCTAAA	0.423		NaN											0	0	0	0.006122	0	18	31				
ZMIZ1	57178	broad.mit.edu	37	10	81072474	81072474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:81072474G>A	uc001kaf.2	+	25	3744	c.3172G>A	c.(3172-3174)GAT>AAT	p.D1058N	ZMIZ1_uc001kag.2_Missense_Mutation_p.D934N|ZMIZ1_uc010qlq.1_Missense_Mutation_p.D124N	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	1058					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATAGTAACGATGACCTCCT	0.537		NaN											0	0	0	0.01441	0	54	104				
NOC3L	64318	broad.mit.edu	37	10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:96116974G>C	uc001kjq.1	-	4	553	c.465C>G	c.(463-465)ATC>ATG	p.I155M	NOC3L_uc009xuk.1_Translation_Start_Site	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	155						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TTTTATCTTTGATAGGAAGTA	0.368		NaN											0	0	0	0.01441	0	41	33				
SLK	9748	broad.mit.edu	37	10	105763061	105763061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:105763061C>G	uc001kxo.1	+	9	2159	c.2125C>G	c.(2125-2127)CTA>GTA	p.L709V	SLK_uc001kxp.1_Missense_Mutation_p.L709V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	709					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCAGCCTGTTCTAATACCCAG	0.353		NaN											0	0	0	0.009718	0	30	20				
ZDHHC6	64429	broad.mit.edu	37	10	114192016	114192016	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:114192016C>G	uc001kzv.2	-	10	1544	c.1120G>C	c.(1120-1122)GAT>CAT	p.D374H	ZDHHC6_uc001kzw.2_Missense_Mutation_p.D370H	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	374						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AAGGAATCATCAAGAATTTTG	0.274		NaN											0	0	0	0.001168	0	5	11				
PAOX	196743	broad.mit.edu	37	10	135204914	135204914	+	Silent	SNP	C	C	T	rs140094339		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:135204914C>T	uc001lmv.2	+	7	1571	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Nonsense_Mutation_p.Q445*|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	635					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACCGCCTCCTCAGTCTGTGGG	0.662		NaN											0	0	0	0.003954	0	24	35				
TRPM5	29850	broad.mit.edu	37	11	2436597	2436597	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:2436597C>T	uc001lwm.3	-	9	1242	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	TRPM5_uc010qxl.1_Silent_p.T411T|TRPM5_uc009ydn.2_Silent_p.T413T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	411	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCCCATACGTCAGGAAGT	0.652		NaN											0	0	0	0.000602	0	5	9				
CCKBR	887	broad.mit.edu	37	11	6281307	6281307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6281307G>A	uc001mcp.2	+	1	342	c.149G>A	c.(148-150)CGA>CAA	p.R50Q	CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.R50Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R50Q	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	50	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCGGGACACGAGGTGGGTGC	0.647		NaN											0	0	0	0.008361	0	21	29				
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:17757753G>A	uc001mnk.3	+	1	259	c.204G>A	c.(202-204)CTG>CTA	p.L68L	KCNC1_uc009yhc.1_Silent_p.L68L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	68	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGCACATCCTGAACTACTACC	0.672		NaN											0	0	0	0.004656	0	24	33				
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:22396376C>G	uc001mqk.2	+	9	1530	c.1117C>G	c.(1117-1119)CTA>GTA	p.L373V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	373	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGCAGATTTTCTAAGAAGCAA	0.388		NaN											0	0	0	0.01441	0	84	103				
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:27077157G>A	uc001mre.1	+	3	548	c.180G>A	c.(178-180)GTG>GTA	p.V60V	BBOX1_uc009yih.1_Silent_p.V60V|BBOX1_uc001mrg.1_Silent_p.V60V	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408		NaN											0	0	0	0.010729	0	9	12				
FNBP4	23360	broad.mit.edu	37	11	47767859	47767859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:47767859C>G	uc009ylv.2	-	7	1147	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	FNBP4_uc001ngj.2_Missense_Mutation_p.E239Q|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	332										ovary(1)	1						TTTATTCCCTCAGGCAATAAA	0.398		NaN											0	0	0	0.001855	0	13	14				
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55322235G>A	uc010rig.1	+	1	453	c.453G>A	c.(451-453)ATG>ATA	p.M151I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AAGGCTGCATGATGCAGCTCT	0.483		NaN								HNSCC(20;0.049)			0	0	0	0.009718	0	42	66				
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55594854C>T	uc001nhy.1	+	1	160	c.160C>T	c.(160-162)CGG>TGG	p.R54W		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473		NaN								HNSCC(27;0.073)			0	0	0	0.01441	0	144	59				
SLC15A3	51296	broad.mit.edu	37	11	60718900	60718900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:60718900C>T	uc001nqn.2	-	1	358	c.124G>A	c.(124-126)GAG>AAG	p.E42K	SLC15A3_uc001nqo.2_Missense_Mutation_p.E42K	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	42	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						TCCAGCATCTCCACCAGCAGC	0.368		NaN											0	0	0	0.009096	0	3	7				
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295516G>T	uc001ntl.2	-	5	6673	c.6373C>A	c.(6373-6375)CAC>AAC	p.H2125N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2125					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522		NaN											1	0	0.00198382	0.001984	0.00202489	5	240				
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295522C>T	uc001ntl.2	-	5	6667	c.6367G>A	c.(6367-6369)GAC>AAC	p.D2123N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2123					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522		NaN											0	0	0	0.00308	0	6	237				
C11orf83	790955	broad.mit.edu	37	11	62439585	62439585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62439585G>A	uc001nui.3	+	2	373	c.281G>A	c.(280-282)TGA>TAA	p.*94*	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	94						extracellular region					0						AGGTCACCGTGAGACCGGACT	0.687		NaN											0	0	0	0.004672	0	2	1				
BBS1	582	broad.mit.edu	37	11	66299177	66299177	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:66299177G>C	uc001oij.1	+	16	1671	c.1659G>C	c.(1657-1659)GAG>GAC	p.E553D	BBS1_uc001oii.1_Missense_Mutation_p.E590D|BBS1_uc010rpg.1_Missense_Mutation_p.E456D|BBS1_uc001oik.1_Missense_Mutation_p.E477D|BBS1_uc001oil.1_Missense_Mutation_p.E424D|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.E221D	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	553					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CCTTTGTGGAGAGTCTCAGTA	0.552		NaN							Bardet-Biedl_syndrome				0	0	0	0.01441	0	61	99				
PRKRIR	5612	broad.mit.edu	37	11	76062117	76062117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062117C>G	uc001oxh.1	-	5	2077	c.2077G>C	c.(2077-2079)GAG>CAG	p.E693Q	PRKRIR_uc010rrz.1_Missense_Mutation_p.E518Q	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	693					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CGCTCATTCTCAACCTTCATC	0.418		NaN											0	0	0	0.00874	0	34	20				
PRKRIR	5612	broad.mit.edu	37	11	76062585	76062585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062585C>G	uc001oxh.1	-	5	1609	c.1609G>C	c.(1609-1611)GAG>CAG	p.E537Q	PRKRIR_uc010rrz.1_Missense_Mutation_p.E362Q	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	537					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GTGGCTTCCTCAAACCAAAAT	0.428		NaN											0	0	0	0.006214	0	7	13				
ODZ4	26011	broad.mit.edu	37	11	78516497	78516497	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:78516497G>A	uc001ozl.3	-	15	2482	c.2019C>T	c.(2017-2019)TGC>TGT	p.C673C		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	673	EGF-like 4.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGCCTCTCACGCAGACACCCC	0.582		NaN											0	0	0	0.001168	0	4	12				
GRM5	2915	broad.mit.edu	37	11	88780766	88780766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:88780766C>T	uc001pcq.2	-	1	475	c.275G>A	c.(274-276)GGC>GAC	p.G92D	GRM5_uc009yvm.2_Missense_Mutation_p.G92D|GRM5_uc009yvn.1_Missense_Mutation_p.G92D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	92	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.G92R(1)		central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TATCTCACAGCCCAGTGTGAT	0.522		NaN											0	0	0	0.003163	0	10	16				
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:94533413C>T	uc001pfb.2	+	3	1227	c.1057C>T	c.(1057-1059)CAG>TAG	p.Q353*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q303*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567		NaN											0	0	0	0.01441	0	54	99				
BIRC3	330	broad.mit.edu	37	11	102195686	102195686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102195686G>C	uc001pgx.2	+	3	668	c.446G>C	c.(445-447)AGA>ACA	p.R149T		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	149					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTAAACTCCAGAGCAAATCAA	0.393		NaN	T	MALT1	MALT								0	0	0	0.01441	0	41	73				
DYNC2H1	79659	broad.mit.edu	37	11	102980483	102980483	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102980483C>G	uc001pho.2	+	1	324	c.180C>G	c.(178-180)ATC>ATG	p.I60M	DYNC2H1_uc001phn.1_Missense_Mutation_p.I60M|DYNC2H1_uc009yxe.1_Missense_Mutation_p.I60M	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	60	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACGCAGGAATCTCCTTTTCCA	0.557		NaN											0	0	0	0.012213	0	27	21				
EXPH5	23086	broad.mit.edu	37	11	108383904	108383904	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:108383904T>A	uc001pkk.2	-	6	2441	c.2330A>T	c.(2329-2331)GAT>GTT	p.D777V	EXPH5_uc010rvy.1_Missense_Mutation_p.D589V|EXPH5_uc010rvz.1_Missense_Mutation_p.D621V|EXPH5_uc010rwa.1_Missense_Mutation_p.D701V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	777					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTGGAGGTATCTTTCCTGGA	0.388		NaN											0	0	0	0.01441	0	34	52				
C11orf57	55216	broad.mit.edu	37	11	111946331	111946331	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:111946331G>T	uc001pmr.3	+	2	714	c.33G>T	c.(31-33)CTG>CTT	p.L11L	PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Silent_p.L11L|C11orf57_uc001pmw.3_Silent_p.L11L|C11orf57_uc001pmt.3_Silent_p.L11L|C11orf57_uc001pmv.3_Silent_p.L11L|C11orf57_uc001pms.3_5'UTR	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	11										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGGTCCTCCTGAGGAATGTCA	0.413		NaN											1	0	6.07407e-21	0.007291	6.52401e-21	22	25				
IFT46	56912	broad.mit.edu	37	11	118416128	118416128	+	Nonsense_Mutation	SNP	G	G	C	rs45508996		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:118416128G>C	uc001ptp.1	-	11	1193	c.815C>G	c.(814-816)TCA>TGA	p.S272*	TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Nonsense_Mutation_p.S323*|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	272					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0						GCTCACCTGTGAGTTCTTGAA	0.458		NaN											0	0	0	0.01441	0	56	47				
HINFP	25988	broad.mit.edu	37	11	119003647	119003647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:119003647G>T	uc001pvp.2	+	9	1138	c.949G>T	c.(949-951)GAG>TAG	p.E317*	HINFP_uc001pvq.2_Nonsense_Mutation_p.E317*|HINFP_uc001pvr.2_Nonsense_Mutation_p.E70*	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	317	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GTGTGATTTTGAGAACTGCAC	0.517		NaN											1	0	1.00905e-13	0.008871	1.06751e-13	19	42				
HSPA8	3312	broad.mit.edu	37	11	122931883	122931883	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:122931883C>T	uc001pyo.2	-	2	228	c.150G>A	c.(148-150)TTG>TTA	p.L50L	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Silent_p.L50L|HSPA8_uc010rzu.1_Silent_p.L50L|HSPA8_uc009zbd.1_Silent_p.L50L|HSPA8_uc010rzv.1_Silent_p.L50L	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	50					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCACCGATCAACCGTTCAG	0.448		NaN											0	0	0	0.008871	0	15	33				
OR10G8	219869	broad.mit.edu	37	11	123900527	123900527	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:123900527C>T	uc001pzp.1	+	1	198	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTGTCGTTCATTGACATGT	0.542		NaN											0	0	0	0.01441	0	48	101				
KIRREL3	84623	broad.mit.edu	37	11	126294664	126294664	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:126294664G>T	uc001qea.2	-	17	2509	c.2148C>A	c.(2146-2148)CTC>CTA	p.L716L	KIRREL3_uc001qeb.2_Silent_p.L704L|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	716	Cytoplasmic (Potential).|Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGCTGTCGCTGAGGGAGCCTC	0.632		NaN											1	0	2.27111e-07	0.013537	2.35717e-07	11	27				
ST14	6768	broad.mit.edu	37	11	130058506	130058506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130058506C>T	uc001qfw.2	+	3	516	c.323C>T	c.(322-324)TCC>TTC	p.S108F	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	108	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TACGAGAACTCCAACTCCACT	0.562		NaN											0	0	0	0.008361	0	23	50				
ST14	6768	broad.mit.edu	37	11	130066275	130066275	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130066275C>T	uc001qfw.2	+	10	1348	c.1155C>T	c.(1153-1155)TTC>TTT	p.F385F	ST14_uc010sca.1_Silent_p.F195F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	385	CUB 2.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAAATTCTTCTACCTGCTGG	0.632		NaN											0	0	0	0.006214	0	6	7				
NTM	50863	broad.mit.edu	37	11	132184470	132184470	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:132184470G>A	uc001qgp.2	+	6	1471	c.807G>A	c.(805-807)GTG>GTA	p.V269V	NTM_uc001qgm.2_Silent_p.V269V|NTM_uc010sch.1_Silent_p.V260V|NTM_uc010sci.1_Silent_p.V269V|NTM_uc010scj.1_Silent_p.V228V|NTM_uc001qgo.2_Silent_p.V269V|NTM_uc001qgq.2_Silent_p.V269V|NTM_uc001qgr.2_Silent_p.V51V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGAAAGGGGTGAAAGTGGAAA	0.433		NaN											0	0	0	0.004672	0	3	22				
C1S	716	broad.mit.edu	37	12	7177945	7177945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:7177945G>A	uc001qsj.2	+	15	2776	c.2057G>A	c.(2056-2058)CGT>CAT	p.R686H	C1S_uc001qsk.2_Missense_Mutation_p.R686H|C1S_uc001qsl.2_Missense_Mutation_p.R686H|C1S_uc009zfr.2_Missense_Mutation_p.R519H|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	686					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGCACCCCCCGTGAGGACTAA	0.483		NaN											0	0	0	0.01441	0	45	71				
C12orf60	144608	broad.mit.edu	37	12	14975926	14975926	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:14975926C>T	uc001rcj.3	+	2	261	c.57C>T	c.(55-57)TTC>TTT	p.F19F		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	19										ovary(1)|central_nervous_system(1)	2						CCAAAATGTTCTTCTTTCATG	0.368		NaN											0	0	0	0.00632	0	27	48				
PLEKHA5	54477	broad.mit.edu	37	12	19427759	19427759	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:19427759C>G	uc001reb.2	+	10	1223	c.1137C>G	c.(1135-1137)GTC>GTG	p.V379V	PLEKHA5_uc010sie.1_Silent_p.V385V|PLEKHA5_uc001rea.2_Silent_p.V379V|PLEKHA5_uc009zin.2_Silent_p.V137V|PLEKHA5_uc010sif.1_Silent_p.V271V|PLEKHA5_uc010sig.1_Silent_p.V271V|PLEKHA5_uc010sih.1_Silent_p.V271V|PLEKHA5_uc001rec.1_Silent_p.V67V	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	379							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACAAAATAGTCAATGTTAGCC	0.468		NaN											0	0	0	0.009535	0	29	60				
CAPRIN2	65981	broad.mit.edu	37	12	30906540	30906540	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:30906540G>A	uc001rji.1	-	1	909	c.158C>T	c.(157-159)TCA>TTA	p.S53L	CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S53L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S53L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S53L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	53					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAACAGATGAGGCTGAAGG	0.463		NaN									OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	46	50				
DENND5B	160518	broad.mit.edu	37	12	31540565	31540565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540565C>T	uc001rki.1	-	21	3983	c.3797G>A	c.(3796-3798)GGA>GAA	p.G1266E	DENND5B_uc001rkh.1_Missense_Mutation_p.G1301E|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1266	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GATGAGTGATCCTTCTAGGAC	0.498		NaN											0	0	0	0.00632	0	20	33				
DENND5B	160518	broad.mit.edu	37	12	31540607	31540607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540607C>T	uc001rki.1	-	21	3941	c.3755G>A	c.(3754-3756)CGA>CAA	p.R1252Q	DENND5B_uc001rkh.1_Missense_Mutation_p.R1287Q|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1252	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CTGCAGAATTCGGATAAGGGA	0.488		NaN											0	0	0	0.006122	0	16	29				
DENND5B	160518	broad.mit.edu	37	12	31540637	31540637	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540637C>G	uc001rki.1	-	21	3911	c.3725G>C	c.(3724-3726)CGA>CCA	p.R1242P	DENND5B_uc001rkh.1_Missense_Mutation_p.R1277P|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1242	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CATGCGGTCTCGCAGGAGAGC	0.498		NaN											0	0	0	0.00632	0	22	28				
DIP2B	57609	broad.mit.edu	37	12	51072628	51072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:51072628G>A	uc001rwv.2	+	8	1239	c.1083G>A	c.(1081-1083)ATG>ATA	p.M361I	DIP2B_uc001rwu.2_Missense_Mutation_p.M361I|DIP2B_uc009zls.1_Missense_Mutation_p.M243I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	361						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CACTGGACATGACAGGGAAAC	0.468		NaN											0	0	0	0.005524	0	30	56				
KRT6C	286887	broad.mit.edu	37	12	52865237	52865237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:52865237C>T	uc001sal.3	-	4	928	c.880G>A	c.(880-882)GAG>AAG	p.E294K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	294	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AAGTTGATCTCATCTGTGAGA	0.488		NaN											0	0	0	0.01441	0	42	74				
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227586G>A	uc001sbb.2	-	1	492	c.459C>T	c.(457-459)TTC>TTT	p.F153F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	153	Rod.|Coil 1A.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TGAAGGAGGCGAACTTGTTGT	0.607		NaN											0	0	0	0.01441	0	81	122				
KRT79	338785	broad.mit.edu	37	12	53227664	53227664	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227664G>C	uc001sbb.2	-	1	414	c.381C>G	c.(379-381)CTC>CTG	p.L127L		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	127	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TCTCCACATGGAGGGGGGTCA	0.602		NaN											0	0	0	0.01441	0	46	70				
GDF11	10220	broad.mit.edu	37	12	56137466	56137466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56137466C>G	uc001shq.2	+	1	403	c.366C>G	c.(364-366)GAC>GAG	p.D122E	GDF11_uc010spv.1_Missense_Mutation_p.D122E	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	122					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCAGGGCGACGCGCTGCAGC	0.667		NaN											0	0	0	0.00632	0	24	19				
DGKA	1606	broad.mit.edu	37	12	56345848	56345848	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56345848C>T	uc001sij.2	+	19	1881	c.1617C>T	c.(1615-1617)ATC>ATT	p.I539I	DGKA_uc001sii.1_Silent_p.I397I|DGKA_uc009zod.1_Silent_p.I458I|DGKA_uc001sik.2_Silent_p.I539I|DGKA_uc001sil.2_Silent_p.I539I|DGKA_uc001sim.2_Silent_p.I539I|DGKA_uc001sin.2_Silent_p.I539I|DGKA_uc009zof.2_Silent_p.I185I|DGKA_uc001sio.2_Silent_p.I281I	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	539					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GATTCCACATCATGCGAGAGA	0.522		NaN											0	0	0	0.01441	0	73	53				
PAN2	9924	broad.mit.edu	37	12	56717846	56717846	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56717846G>C	uc001skx.2	-	13	2425	c.2052C>G	c.(2050-2052)CTC>CTG	p.L684L	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.L683L|PAN2_uc001sky.2_Silent_p.L684L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	684					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CAGGGTAGGAGAGTGTGAAAA	0.532		NaN											0	0	0	0.01441	0	99	80				
TMBIM4	51643	broad.mit.edu	37	12	66531814	66531814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:66531814T>C	uc001stc.2	-	7	719	c.643A>G	c.(643-645)ATC>GTC	p.I215V	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.I184V|TMBIM4_uc009zqr.2_Missense_Mutation_p.I262V|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	215	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TAGAGGCTGATGGCAGCTAAT	0.418		NaN											0	0	0	0.01441	0	35	80				
ATP2B1	490	broad.mit.edu	37	12	89997570	89997570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:89997570G>C	uc001tbh.2	-	16	2948	c.2767C>G	c.(2767-2769)CTC>GTC	p.L923V	ATP2B1_uc001tbg.2_Missense_Mutation_p.L923V|ATP2B1_uc001tbf.2_Missense_Mutation_p.L593V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	923	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CGTGAGATGAGAGGCTTATTT	0.418		NaN											0	0	0	0.01441	0	48	67				
GLT8D2	83468	broad.mit.edu	37	12	104388223	104388223	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:104388223G>A	uc001tkh.1	-	9	1063	c.657C>T	c.(655-657)ATC>ATT	p.I219I	GLT8D2_uc001tki.1_Silent_p.I219I	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	219	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						TGCTGGGGCTGATGCCAAGGT	0.483		NaN											0	0	0	0.013726	0	28	27				
APPL2	55198	broad.mit.edu	37	12	105582222	105582222	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:105582222G>T	uc001tlf.1	-	17	1681	c.1463C>A	c.(1462-1464)TCT>TAT	p.S488Y	APPL2_uc010swt.1_Missense_Mutation_p.S445Y|APPL2_uc001tlg.1_Missense_Mutation_p.S242Y|APPL2_uc010swu.1_Missense_Mutation_p.S494Y|APPL2_uc009zuq.2_Missense_Mutation_p.S445Y	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	488	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						CTGCAAAAGAGAATCTGGAAG	0.418		NaN											1	0	2.37509e-13	0.010504	2.50732e-13	17	20				
MYO1H	283446	broad.mit.edu	37	12	109872912	109872912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:109872912C>T	uc010sxn.1	+	20	2086	c.2086C>T	c.(2086-2088)CAA>TAA	p.Q696*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TAGTAAACATCAACTAGGTAT	0.343		NaN											0	0	0	0.013537	0	10	18				
RBM19	9904	broad.mit.edu	37	12	114392942	114392942	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:114392942G>A	uc009zwi.2	-	7	1059	c.915C>T	c.(913-915)GTC>GTT	p.V305V	RBM19_uc001tvn.3_Silent_p.V305V|RBM19_uc001tvm.2_Silent_p.V305V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	305	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ATACCTCTGTGACATTGAACG	0.572		NaN											0	0	0	0.001168	0	4	155				
FBXO21	23014	broad.mit.edu	37	12	117595695	117595695	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:117595695G>A	uc001twk.2	-	10	1560	c.1521C>T	c.(1519-1521)CTC>CTT	p.L507L	FBXO21_uc001twj.2_Silent_p.L500L|FBXO21_uc009zwq.2_Silent_p.L440L|FBXO21_uc001twl.1_Silent_p.L120L	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	507					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTCATAATGAGCCCGATGG	0.562		NaN											0	0	0	0.01441	0	51	65				
WSB2	55884	broad.mit.edu	37	12	118490215	118490215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:118490215C>G	uc001twr.2	-	2	180	c.82G>C	c.(82-84)GAA>CAA	p.E28Q	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.E28Q	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	28					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCAGGTTTCACAGCTGGAC	0.587		NaN											0	0	0	0.01441	0	78	106				
GPR81	27198	broad.mit.edu	37	12	123214482	123214482	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:123214482G>A	uc001ucz.2	-	1	648	c.405C>T	c.(403-405)ATC>ATT	p.I135I	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	135	Helical; Name=4; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGTGCAGACGATGCCAGCCG	0.592		NaN											0	0	0	0.01441	0	63	60				
DNAH10	196385	broad.mit.edu	37	12	124415937	124415937	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:124415937C>G	uc001uft.3	+	73	12505	c.12480C>G	c.(12478-12480)CTC>CTG	p.L4160L	DNAH10_uc001ufu.3_Silent_p.L73L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTGGTCTCCACCCCAACG	0.577		NaN											0	0	0	0.004878	0	29	49				
DHX37	57647	broad.mit.edu	37	12	125451375	125451375	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:125451375C>T	uc001ugy.2	-	12	1653	c.1554G>A	c.(1552-1554)AAG>AAA	p.K518K		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	518	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTTGACTTCTTAAACTTCC	0.537		NaN											0	0	0	0.013114	0	34	58				
ZMYM2	7750	broad.mit.edu	37	13	20608481	20608481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:20608481G>A	uc001umr.2	+	12	2354	c.2056G>A	c.(2056-2058)GAG>AAG	p.E686K	ZMYM2_uc001ums.2_Missense_Mutation_p.E686K|ZMYM2_uc001umt.2_Missense_Mutation_p.E686K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E66K|ZMYM2_uc001umw.2_Missense_Mutation_p.E139K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	686	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACTGTCAAGAGGAGAAGAC	0.358		NaN											0	0	0	0.013726	0	30	53				
SACS	26278	broad.mit.edu	37	13	23909330	23909330	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23909330G>A	uc001uon.2	-	10	9274	c.8685C>T	c.(8683-8685)AAC>AAT	p.N2895N	SACS_uc001uoo.2_Silent_p.N2748N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2895					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACGCCACAGGTTCCTTCTGG	0.433		NaN											0	0	0	0.00623	0	35	28				
SACS	26278	broad.mit.edu	37	13	23915753	23915753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23915753G>A	uc001uon.2	-	10	2851	c.2262C>T	c.(2260-2262)TTC>TTT	p.F754F	SACS_uc001uoo.2_Silent_p.F607F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Silent_p.F607F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	754					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCCAGGCCAGAATGTATTCA	0.373		NaN											0	0	0	0.009718	0	31	52				
C13orf26	122046	broad.mit.edu	37	13	31506889	31506889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:31506889C>T	uc001uti.2	+	1	56	c.37C>T	c.(37-39)CTC>TTC	p.L13F	uc001utg.1_5'Flank	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	hypothetical protein LOC122046	13										ovary(2)|skin(1)	3		Lung SC(185;0.0281)		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)		GGATCCCTCTCTCTGCCACCA	0.672		NaN											0	0	0	0.007413	0	15	22				
RXFP2	122042	broad.mit.edu	37	13	32366994	32366994	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:32366994G>C	uc001utt.2	+	16	1626	c.1555G>C	c.(1555-1557)GAG>CAG	p.E519Q	RXFP2_uc010aba.2_Missense_Mutation_p.E478Q	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	519	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTGACTTTGGAGAAGTTCCT	0.517		NaN											0	0	0	0.003954	0	20	28				
TRPC4	7223	broad.mit.edu	37	13	38225530	38225530	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:38225530C>A	uc001uws.2	-	8	2186	c.1951G>T	c.(1951-1953)GGT>TGT	p.G651C	TRPC4_uc010abv.2_Missense_Mutation_p.G231C|TRPC4_uc001uwt.2_Missense_Mutation_p.G651C|TRPC4_uc010tey.1_Missense_Mutation_p.G651C|TRPC4_uc010abw.2_Missense_Mutation_p.G478C|TRPC4_uc010abx.2_Missense_Mutation_p.G651C|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	651	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGAGTACCTCCTTCTTCA	0.433		NaN											1	0	3.13765e-25	0.01441	3.40719e-25	60	47				
UTP14C	9724	broad.mit.edu	37	13	52603133	52603133	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:52603133G>C	uc001vgb.2	+	2	728	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	65					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAGAGGTCTGAGGCTAGTCT	0.468		NaN											0	0	0	0.01441	0	74	164				
TBC1D4	9882	broad.mit.edu	37	13	75933988	75933988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:75933988G>A	uc001vjl.1	-	3	1434	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	TBC1D4_uc010aer.2_Nonsense_Mutation_p.R363*|TBC1D4_uc010aes.2_Nonsense_Mutation_p.R363*	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	363	PID 2.					cytoplasm	Rab GTPase activator activity	p.R363Q(1)		ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCTCAAATCGCCCAACCTTA	0.274		NaN											0	0	0	0.010729	0	11	38				
MYCBP2	23077	broad.mit.edu	37	13	77667465	77667465	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:77667465T>C	uc001vkf.2	-	60	10179	c.10088A>G	c.(10087-10089)CAT>CGT	p.H3363R	MYCBP2_uc010aev.2_Missense_Mutation_p.H2767R|MYCBP2_uc001vke.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGATGATGCCTGCATTA	0.358		NaN											0	0	0	0.001984	0	7	127				
DOCK9	23348	broad.mit.edu	37	13	99538841	99538841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:99538841C>G	uc001vnt.2	-	19	2139	c.2084G>C	c.(2083-2085)AGA>ACA	p.R695T	DOCK9_uc001vnw.2_Missense_Mutation_p.R694T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R695T|DOCK9_uc010tis.1_Missense_Mutation_p.R694T|DOCK9_uc010tit.1_Missense_Mutation_p.R695T|DOCK9_uc010afu.1_Missense_Mutation_p.R510T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	695	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGGCGCTTCTTGTGAAAAC	0.383		NaN											0	0	0	0.007413	0	13	15				
ARHGEF7	8874	broad.mit.edu	37	13	111929934	111929934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:111929934G>A	uc001vrs.2	+	14	1733	c.1483G>A	c.(1483-1485)GAA>AAA	p.E495K	ARHGEF7_uc001vrr.2_Missense_Mutation_p.E474K|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E445K|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E317K|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E317K|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E392K|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E239K	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	495	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTGTATTAGGAAAAGAATGA	0.313		NaN											0	0	0	0.008291	0	9	19				
TMEM63C	57156	broad.mit.edu	37	14	77709324	77709324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77709324C>G	uc001xtf.2	+	15	1478	c.1266C>G	c.(1264-1266)TTC>TTG	p.F422L	TMEM63C_uc010asq.1_Missense_Mutation_p.F422L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	422	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCTCTTCTTCTTTCTCACCA	0.552		NaN											0	0	0	0.010504	0	19	31				
SPTLC2	9517	broad.mit.edu	37	14	77984460	77984460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77984460C>G	uc001xub.2	-	11	1678	c.1490G>C	c.(1489-1491)GGA>GCA	p.G497A		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	497						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCAGGAAATCCAACCACAAC	0.483		NaN											0	0	0	0.004656	0	25	41				
TDP1	55775	broad.mit.edu	37	14	90437609	90437609	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:90437609C>T	uc001xxy.2	+	6	1049	c.750C>T	c.(748-750)CTC>CTT	p.L250L	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L250L|TDP1_uc010atn.2_Silent_p.L250L|TDP1_uc001xya.2_Missense_Mutation_p.S23F|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L250L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	250					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACATCTCTCTCTGCCAGGTAA	0.378		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.01441	0	41	29				
SERPINA11	256394	broad.mit.edu	37	14	94914896	94914896	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:94914896G>A	uc001ydd.1	-	2	276	c.216C>T	c.(214-216)AAC>AAT	p.N72N		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	72					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AGAAGAAGATGTTTCCGGGGG	0.567		NaN											0	0	0	0.01441	0	82	107				
PAPOLA	10914	broad.mit.edu	37	14	96991650	96991650	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:96991650C>G	uc001yfq.2	+	4	463	c.253C>G	c.(253-255)CTT>GTT	p.L85V	PAPOLA_uc001yfo.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfp.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfr.2_Missense_Mutation_p.L85V|PAPOLA_uc010twv.1_Missense_Mutation_p.L85V|PAPOLA_uc010avp.2_Translation_Start_Site	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	85					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACAGAATCTTCCACAATC	0.333		NaN											0	0	0	0.010504	0	15	31				
RTL1	388015	broad.mit.edu	37	14	101349286	101349286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:101349286C>T	uc010txj.1	-	1	1899	c.1840G>A	c.(1840-1842)GCG>ACG	p.A614T	uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	614										pancreas(1)	1						TCCCAAGGCGCGGTGGAGGGA	0.552		NaN											0	0	0	0.010729	0	11	29				
WDR20	91833	broad.mit.edu	37	14	102606455	102606455	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:102606455C>G	uc001ykz.2	+	1	244	c.195C>G	c.(193-195)CTC>CTG	p.L65L	WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	65											0						GCGACCGCCTCTGCTTCAATG	0.637		NaN											0	0	0	0.007291	0	25	25				
SLC12A6	9990	broad.mit.edu	37	15	34544565	34544565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:34544565C>T	uc001zhw.2	-	9	1303	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	SLC12A6_uc001zhv.2_Missense_Mutation_p.R329H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R365H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R321H|SLC12A6_uc001zib.2_Missense_Mutation_p.R371H|SLC12A6_uc001zic.2_Missense_Mutation_p.R380H|SLC12A6_uc010bau.2_Missense_Mutation_p.R380H|SLC12A6_uc001zid.2_Missense_Mutation_p.R321H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.R192H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	380	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAAGGGTGCGGTTACCCAG	0.383		NaN											0	0	0	0.007291	0	23	40				
OIP5	11339	broad.mit.edu	37	15	41624731	41624731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41624731G>C	uc001znp.2	-	1	89	c.29C>G	c.(28-30)TCA>TGA	p.S10*	NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	NM_007280	NP_009211	O43482	MS18B_HUMAN	Opa interacting protein 5	10					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCACAACGTGAGCGATGCCG	0.637		NaN											0	0	0	0.01441	0	59	62				
RTF1	23168	broad.mit.edu	37	15	41763545	41763545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41763545C>T	uc001zny.2	+	8	1213	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	401	Plus3.			R->E: Loss of binding to single-stranded DNA.	histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACCAGTTTACCGGGTTGGTAT	0.443		NaN											0	0	0	0.007291	0	27	31				
PDIA3	2923	broad.mit.edu	37	15	44057680	44057680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:44057680C>G	uc001zsu.2	+	6	783	c.635C>G	c.(634-636)ACT>AGT	p.T212S	PDIA3_uc010bdp.2_Missense_Mutation_p.T192S|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	212					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACATCTCACTAACAAGTTT	0.348		NaN											0	0	0	0.005524	0	33	46				
SLC27A2	11001	broad.mit.edu	37	15	50519256	50519256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:50519256G>C	uc001zxw.2	+	7	1570	c.1338G>C	c.(1336-1338)GAG>GAC	p.E446D	SLC27A2_uc010bes.2_Missense_Mutation_p.E393D|SLC27A2_uc001zxx.2_Missense_Mutation_p.E211D	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	446	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383		NaN											0	0	0	0.008291	0	10	13				
TMOD2	29767	broad.mit.edu	37	15	52090495	52090495	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:52090495G>A	uc002abk.2	+	8	1055	c.834G>A	c.(832-834)CTG>CTA	p.L278L	TMOD2_uc002abl.3_Silent_p.L242L|TMOD2_uc010bfb.2_Silent_p.L234L	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	278					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TAGAGGCACTGAAAGAAAATG	0.453		NaN											0	0	0	0.013537	0	9	22				
HERC1	8925	broad.mit.edu	37	15	64048748	64048748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:64048748G>A	uc002amp.2	-	5	1569	c.1421C>T	c.(1420-1422)ACG>ATG	p.T474M	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T474M	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	474	WD 1.|RCC1 2.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCTTCTGTCGTAAAGGCTAA	0.393		NaN											0	0	0	0.012213	0	31	29				
DENND4A	10260	broad.mit.edu	37	15	65982875	65982875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:65982875C>G	uc002aph.2	-	22	4303	c.3925G>C	c.(3925-3927)GAT>CAT	p.D1309H	DENND4A_uc002api.2_Missense_Mutation_p.D1352H|DENND4A_uc002apj.3_Missense_Mutation_p.D1309H	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGTAGTGTATCTAAGTTAAAT	0.398		NaN											0	0	0	0.010818	0	23	32				
ITGA11	22801	broad.mit.edu	37	15	68649618	68649618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:68649618C>G	uc002ari.2	-	7	707	c.620G>C	c.(619-621)GGC>GCC	p.G207A	ITGA11_uc010bib.2_Missense_Mutation_p.G207A	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	207	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CACATCTTCGCCATACTGCAC	0.507		NaN											0	0	0	0.01441	0	43	59				
SIN3A	25942	broad.mit.edu	37	15	75668200	75668200	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75668200T>C	uc002bai.2	-	20	3656	c.3397A>G	c.(3397-3399)ATC>GTC	p.I1133V	SIN3A_uc002baj.2_Missense_Mutation_p.I1133V|SIN3A_uc010uml.1_Missense_Mutation_p.I1133V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1133					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CACTTCCGGATCCGCCGTAGA	0.493		NaN											0	0	0	0.01441	0	19	95				
SIN3A	25942	broad.mit.edu	37	15	75676654	75676654	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75676654G>T	uc002bai.2	-	17	3405	c.3146C>A	c.(3145-3147)ACG>AAG	p.T1049K	SIN3A_uc002baj.2_Missense_Mutation_p.T1049K|SIN3A_uc010uml.1_Missense_Mutation_p.T1049K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1049					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CCGCTGATACGTTGACTCCAG	0.493		NaN											1	0	4.1943e-16	0.008291	4.44686e-16	8	144				
PTPN9	5780	broad.mit.edu	37	15	75798201	75798201	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75798201G>A	uc002bal.2	-	7	1291	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	261						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TGATCTCATCGAAGGGATCTG	0.527		NaN											0	0	0	0.005443	0	23	46				
ACAN	176	broad.mit.edu	37	15	89398558	89398558	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:89398558G>A	uc010upo.1	+	12	3116	c.2742G>A	c.(2740-2742)GTG>GTA	p.V914V	ACAN_uc010upp.1_Silent_p.V914V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	914					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCCTGTGGAAAGTGGAC	0.587		NaN											0	0	0	0.003163	0	12	16				
IQGAP1	8826	broad.mit.edu	37	15	91025471	91025471	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:91025471G>A	uc002bpl.1	+	28	3614	c.3513G>A	c.(3511-3513)TTG>TTA	p.L1171L		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1171	Ras-GAP.|C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGACTCGTTGCATGAGAAGT	0.502		NaN									OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	41	65				
CHTF18	63922	broad.mit.edu	37	16	847068	847068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:847068G>C	uc002cke.3	+	20	2772	c.2709G>C	c.(2707-2709)ATG>ATC	p.M903I	CHTF18_uc002ckf.3_Missense_Mutation_p.M931I|CHTF18_uc010brf.2_Missense_Mutation_p.M485I|CHTF18_uc002ckg.3_Missense_Mutation_p.M421I	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	903					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				AGCACATCATGAGGCGAGCGG	0.672		NaN											0	0	0	0.01441	0	43	48				
TPSAB1	7177	broad.mit.edu	37	16	1291238	1291238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:1291238G>C	uc002ckz.2	+	3	198	c.146G>C	c.(145-147)AGA>ACA	p.R49T	TPSAB1_uc010uux.1_5'UTR	NM_003294	NP_003285	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1 precursor	49	Peptidase S1.				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GTGAGCCTGAGAGTCCACGGC	0.706		NaN											0	0	0	0.010818	0	27	55				
SYNGR3	9143	broad.mit.edu	37	16	2042986	2042986	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:2042986C>T	uc002cod.2	+	4	739	c.603C>T	c.(601-603)GGC>GGT	p.G201G		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	201					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0						TGGGCAGCGGCGTGGAGGGCA	0.692		NaN											0	0	0	0.008871	0	13	26				
ZNF200	7752	broad.mit.edu	37	16	3274554	3274554	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:3274554C>G	uc002cuj.2	-	5	1158	c.526G>C	c.(526-528)GAT>CAT	p.D176H	ZNF200_uc002cum.3_Missense_Mutation_p.D175H|ZNF200_uc010bti.2_Missense_Mutation_p.D175H|ZNF200_uc002cuk.2_Missense_Mutation_p.D176H|ZNF200_uc002cui.2_Missense_Mutation_p.D175H|ZNF200_uc002cul.3_Missense_Mutation_p.D175H	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TCTCTATAATCTTCATTTTCT	0.398		NaN											0	0	0	0.004672	0	3	41				
PPL	5493	broad.mit.edu	37	16	4938143	4938143	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:4938143C>T	uc002cyd.1	-	20	2564	c.2474G>A	c.(2473-2475)AGA>AAA	p.R825K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	825	Spectrin 4.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GAGCCTGGCTCTCTTGCTCAC	0.562		NaN											0	0	0	0.01441	0	41	41				
NOMO1	23420	broad.mit.edu	37	16	14969017	14969017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:14969017G>A	uc002dcv.2	+	19	2245	c.2179G>A	c.(2179-2181)GAG>AAG	p.E727K		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	727	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						AAACGGCAATGAGGAAGGCGA	0.567		NaN											0	0	0	0.01441	0	78	169				
DNAH3	55567	broad.mit.edu	37	16	20990840	20990840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:20990840C>G	uc010vbe.1	-	50	7888	c.7888G>C	c.(7888-7890)GAG>CAG	p.E2630Q	DNAH3_uc010vbd.1_Missense_Mutation_p.E65Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGACGCTCTCTTGGAAATAT	0.463		NaN											0	0	0	0.01441	0	42	51				
ITGAX	3687	broad.mit.edu	37	16	31383090	31383090	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:31383090C>T	uc002ebu.1	+	17	2212	c.2145C>T	c.(2143-2145)TTC>TTT	p.F715F	ITGAX_uc002ebt.2_Silent_p.F715F	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	715	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGAAAACTTCAACCTGCTGC	0.542		NaN											0	0	0	0.003271	0	24	35				
DYNC1LI2	1783	broad.mit.edu	37	16	66766331	66766331	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:66766331G>C	uc002eqb.1	-	7	871	c.840C>G	c.(838-840)CTC>CTG	p.L280L	DYNC1LI2_uc010vis.1_Silent_p.L203L|DYNC1LI2_uc010vit.1_Silent_p.L280L|DYNC1LI2_uc010viu.1_Silent_p.L241L	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	280					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACAACAAGTCGAGGTTTTTCT	0.373		NaN											0	0	0	0.008291	0	10	23				
TMEM231	79583	broad.mit.edu	37	16	75579280	75579280	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:75579280C>T	uc002fem.2	-	4	615	c.552G>A	c.(550-552)CTG>CTA	p.L184L	CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L213L|TMEM231_uc002fel.2_Silent_p.L68L|TMEM231_uc010vne.1_Silent_p.L37L|TMEM231_uc010cgx.1_Silent_p.L148L	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 2	184						integral to membrane					0						CACCACAGCTCAGCGGCTGCT	0.517		NaN											0	0	0	0.01441	0	46	72				
USP10	9100	broad.mit.edu	37	16	84778635	84778635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:84778635C>T	uc002fii.2	+	4	690	c.548C>T	c.(547-549)TCA>TTA	p.S183L	USP10_uc010voe.1_Missense_Mutation_p.S187L|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	183					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CATGCCAATTCAGCAGTCCCG	0.498		NaN											0	0	0	0.01441	0	35	38				
FOXF1	2294	broad.mit.edu	37	16	86544388	86544388	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:86544388G>A	uc002fjl.2	+	1	256	c.213G>A	c.(211-213)CTG>CTA	p.L71L	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	71	Fork-head.				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						GCCTGACGCTGAGCGAGATCT	0.627		NaN											0	0	0	0.013114	0	37	27				
OR3A2	4995	broad.mit.edu	37	17	3181494	3181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:3181494C>T	uc002fvg.2	-	1	775	c.736G>A	c.(736-738)GCC>ACC	p.A246T		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	246	Cytoplasmic (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTGGAGAAGGCCTTCTTTCGG	0.517		NaN											0	0	0	0.001855	0	10	16				
CHD3	1107	broad.mit.edu	37	17	7797534	7797534	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7797534C>T	uc002gje.2	+	7	1176	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	CHD3_uc002gjd.2_Silent_p.V401V|CHD3_uc002gjf.2_Silent_p.V342V|CHD3_uc002gjg.1_Silent_p.V170V	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	342					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ATGGCCCTGTCCGCACCAAGA	0.557		NaN											0	0	0	0.007413	0	20	4				
UBB	7314	broad.mit.edu	37	17	16285453	16285453	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285453C>A	uc002gpx.2	+	2	370	c.232C>A	c.(232-234)CAG>AAG	p.Q78K	UBB_uc010vwe.1_Intron	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	78	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537		NaN											1	0	6.4e-05	0.004672	6.57333e-05	3	41				
UBB	7314	broad.mit.edu	37	17	16285681	16285681	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285681C>A	uc002gpx.2	+	2	598	c.460C>A	c.(460-462)CAG>AAG	p.Q154K	UBB_uc010vwe.1_Missense_Mutation_p.Q78K	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	154	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537		NaN											1	0	6.4e-05	0.004672	6.57333e-05	3	47				
KCNJ12	3768	broad.mit.edu	37	17	21319000	21319000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:21319000G>A	uc002gyv.1	+	3	1051	c.346G>A	c.(346-348)GAG>AAG	p.E116K		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	116	Extracellular (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGAGCCGGCTGAGGGCCGGGG	0.647		NaN								Prostate(3;0.18)			0	0	0	0.00499	0	13	46				
GIT1	28964	broad.mit.edu	37	17	27903633	27903633	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27903633C>T	uc002hef.2	-	13	1501	c.1287G>A	c.(1285-1287)CTG>CTA	p.L429L	GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	429					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGGCCTTCTTCAGCTCCAGGT	0.617		NaN											0	0	0	0.005443	0	25	30				
CORO6	84940	broad.mit.edu	37	17	27946116	27946116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27946116G>C	uc002hel.2	-	3	415	c.413C>G	c.(412-414)TCC>TGC	p.S138C	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	138	WD 2.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						AGGGTGCCAGGAGAGGATGCC	0.597		NaN											0	0	0	0.003954	0	26	31				
LYZL6	57151	broad.mit.edu	37	17	34261801	34261801	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34261801C>T	uc002hkj.1	-	4	596	c.446G>A	c.(445-447)TGA>TAA	p.*149*	LYZL6_uc002hkk.1_Silent_p.*149*	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	149					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGTTTCATCTCAGGCG	0.512		NaN											0	0	0	0.01441	0	40	53				
TBC1D3B	414059	broad.mit.edu	37	17	34499268	34499268	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34499268T>C	uc002hky.2	-	7	593	c.443A>G	c.(442-444)GAC>GGC	p.D148G	uc002hla.1_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	148	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGCTTATGTCCCGGTCGAT	0.547		NaN											0	0	0	0.01441	0	24	358				
GGNBP2	79893	broad.mit.edu	37	17	34910697	34910697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34910697G>A	uc002hnb.2	+	3	379	c.130G>A	c.(130-132)GAT>AAT	p.D44N	GGNBP2_uc002hna.2_Missense_Mutation_p.D44N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	44					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTTAAATCTCGATGGACATCA	0.348		NaN											0	0	0	0.01441	0	69	94				
PIP4K2B	8396	broad.mit.edu	37	17	36955630	36955630	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:36955630G>C	uc002hqs.2	-	1	529	c.48C>G	c.(46-48)CTC>CTG	p.L16L	PIP4K2B_uc010wdt.1_Silent_p.L16L	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	16					cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						TGCTGGCGCTGAGCGGCGCCA	0.557		NaN											0	0	0	0.004007	0	14	20				
MED1	5469	broad.mit.edu	37	17	37564544	37564544	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37564544C>T	uc002hrv.3	-	17	4142	c.3930G>A	c.(3928-3930)CTG>CTA	p.L1310L	MED1_uc010wee.1_Silent_p.L1138L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1310	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCCATGCTTCAGTTTATCTA	0.522		NaN								HNSCC(31;0.082)			0	0	0	0.01441	0	44	61				
ERBB2	2064	broad.mit.edu	37	17	37879820	37879820	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37879820G>A	uc002hso.2	+	18	2353	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	ERBB2_uc002hsm.2_Silent_p.A675A|ERBB2_uc010cwa.2_Silent_p.A690A|ERBB2_uc002hsp.2_Silent_p.A508A|ERBB2_uc010cwb.2_Silent_p.A705A|ERBB2_uc010wek.1_Silent_p.A429A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	705	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTAGCGGAGCGATGCCCAACC	0.652		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.00308	0	6	8				
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:38345517C>T	uc010cwu.1	+	6	876	c.386C>T	c.(385-387)TCA>TTA	p.S129L	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S65L	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCCGCCTTTCAGCATCTGTG	0.537		NaN											0	0	0	0.006214	0	9	246				
KRT20	54474	broad.mit.edu	37	17	39041067	39041067	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:39041067A>G	uc002hvl.2	-	1	413	c.371T>C	c.(370-372)ATT>ACT	p.I124T		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	124	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCTCTTCAATTTGTCTGTA	0.458		NaN											0	0	0	0.01441	0	38	58				
STAT5B	6777	broad.mit.edu	37	17	40370258	40370258	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:40370258C>T	uc002hzh.2	-	9	1249	c.1080G>A	c.(1078-1080)CTG>CTA	p.L360L	STAT5B_uc002hzi.3_Silent_p.L360L	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	360					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGTGCACGTTCAGCTTCCCGC	0.577		NaN											0	0	0	0.000602	0	5	105				
NBR1	4077	broad.mit.edu	37	17	41345231	41345231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41345231G>A	uc010czd.2	+	11	1334	c.1194G>A	c.(1192-1194)ATG>ATA	p.M398I	NBR1_uc010diz.2_Missense_Mutation_p.M398I|NBR1_uc010whu.1_Missense_Mutation_p.M398I|NBR1_uc010whv.1_Missense_Mutation_p.M398I|NBR1_uc010whw.1_Missense_Mutation_p.M377I|NBR1_uc010whx.1_Missense_Mutation_p.M207I	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	398					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACTGGAGGATGAAAAATACAG	0.443		NaN											0	0	0	0.006214	0	9	21				
ETV4	2118	broad.mit.edu	37	17	41606896	41606896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41606896C>T	uc002idw.2	-	11	1232	c.1104G>A	c.(1102-1104)GAG>GAA	p.E368E	ETV4_uc002idv.2_Silent_p.E91E|ETV4_uc010wih.1_Silent_p.E314E|ETV4_uc010czh.2_Silent_p.E367E|ETV4_uc010wii.1_Silent_p.E329E|ETV4_uc002idx.2_Silent_p.E368E|ETV4_uc010wij.1_Silent_p.E329E	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	368	ETS.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGAGCTTGAACTCCATTCCCC	0.587		NaN	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								0	0	0	0.008361	0	28	38				
CRHR1	1394	broad.mit.edu	37	17	43912040	43912040	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:43912040G>A	uc010dap.2	+	14	1510	c.1245G>A	c.(1243-1245)TCG>TCA	p.S415S	CRHR1_uc010wjx.1_Silent_p.S211S|CRHR1_uc002ijp.2_Missense_Mutation_p.R240Q|CRHR1_uc002ijm.2_Silent_p.S386S|CRHR1_uc002ijn.2_Silent_p.S346S|CRHR1_uc010dar.2_Silent_p.S372S|CRHR1_uc010dao.2_Silent_p.S285S|CRHR1_uc010daq.2_Silent_p.S211S	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	415	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAAGCACTCGATCCGTGCCC	0.637		NaN											0	0	0	0.01441	0	55	58				
FAM117A	81558	broad.mit.edu	37	17	47797711	47797711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:47797711G>C	uc002ipk.2	-	4	619	c.550C>G	c.(550-552)CAC>GAC	p.H184D	FAM117A_uc010wlz.1_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	184										ovary(1)	1						CGCACTGCGTGGTCCCCTAGG	0.587		NaN											0	0	0	0.01441	0	50	99				
ITGA3	3675	broad.mit.edu	37	17	48133990	48133990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48133990G>A	uc010dbl.2	+	1	651	c.187G>A	c.(187-189)GAG>AAG	p.E63K	ITGA3_uc010dbm.2_Missense_Mutation_p.E63K	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	63	FG-GAP 1.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCGGCAGACAGAGCGGCAGCA	0.662		NaN											0	0	0	0.00499	0	12	17				
ABCC3	8714	broad.mit.edu	37	17	48750918	48750918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48750918G>A	uc002isl.2	+	19	2578	c.2498G>A	c.(2497-2499)GGC>GAC	p.G833D		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	833	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTGAGATGGGCCCGTACCCA	0.602		NaN											0	0	0	0.007291	0	27	120				
ANKRD40	91369	broad.mit.edu	37	17	48784970	48784970	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48784970C>T	uc002iso.2	-	1	301	c.46G>A	c.(46-48)GAG>AAG	p.E16K		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	16	ANK 1.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCCGCGGCCTCCCGCAGCCTC	0.493		NaN											0	0	0	0.01441	0	65	114				
GDPD1	284161	broad.mit.edu	37	17	57335175	57335175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:57335175G>C	uc002ixk.1	+	6	687	c.550G>C	c.(550-552)GAA>CAA	p.E184Q	GDPD1_uc002ixj.2_Missense_Mutation_p.E184Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	184	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGCCAATTATGAAATTGTAGA	0.323		NaN											0	0	0	0.01441	0	40	54				
INTS2	57508	broad.mit.edu	37	17	59981823	59981823	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:59981823G>A	uc002izn.2	-	9	1405	c.1329C>T	c.(1327-1329)GTC>GTT	p.V443V	INTS2_uc002izm.2_Silent_p.V435V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	443	Helical; (Potential).				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TTAGGTACCTGACAAGTGTAG	0.388		NaN											0	0	0	0.000602	0	3	5				
WIPI1	55062	broad.mit.edu	37	17	66430741	66430741	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:66430741G>A	uc010dey.2	-	7	739	c.648C>T	c.(646-648)GTC>GTT	p.V216V	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.V134V|WIPI1_uc002jhe.3_RNA	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	216	WD 1.				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						GCCCATCAGGGACAGAGAACA	0.488		NaN											0	0	0	0.009535	0	24	36				
ABCA5	23461	broad.mit.edu	37	17	67255906	67255906	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:67255906G>C	uc002jif.2	-	27	4890	c.3672C>G	c.(3670-3672)CTC>CTG	p.L1224L	ABCA5_uc002jib.2_Silent_p.L190L|ABCA5_uc002jic.2_Silent_p.L447L|ABCA5_uc002jid.2_Silent_p.L141L|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L1224L	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1224	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGTATTGTAAGAGGAAAATCC	0.269		NaN											0	0	0	0.00632	0	21	39				
COG1	9382	broad.mit.edu	37	17	71197795	71197795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:71197795C>T	uc002jjg.2	+	7	1865	c.1829C>T	c.(1828-1830)TCA>TTA	p.S610L	COG1_uc002jjh.2_Missense_Mutation_p.S610L|COG1_uc002jjf.1_Missense_Mutation_p.S610L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	610					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCACTCAGTTCTTTTC	0.552		NaN											0	0	0	0.010504	0	20	27				
ITGB4	3691	broad.mit.edu	37	17	73749862	73749862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73749862C>G	uc002jpg.2	+	33	4312	c.4125C>G	c.(4123-4125)TTC>TTG	p.F1375L	ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1375	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGAAGTTCGAGCCCCTGC	0.657		NaN											0	0	0	0.012319	0	14	15				
GALK1	2584	broad.mit.edu	37	17	73759154	73759154	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73759154G>A	uc010wsi.1	-	4	615	c.552C>T	c.(550-552)ATC>ATT	p.I184I	GALK1_uc002jpk.2_Silent_p.I184I|GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	184			I -> M.		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTCCATGATGCCACAGG	0.632		NaN											0	0	0	0.01441	0	42	64				
AZI1	22994	broad.mit.edu	37	17	79170817	79170817	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79170817C>A	uc002jzp.1	-	14	1895	c.1695G>T	c.(1693-1695)CTG>CTT	p.L565L	AZI1_uc002jzm.1_5'UTR|AZI1_uc002jzn.1_Silent_p.L562L|AZI1_uc002jzo.1_Silent_p.L562L|AZI1_uc010wum.1_Silent_p.L565L|AZI1_uc002jzq.2_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	565					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCGGACCCCAGCTCCAGGG	0.692		NaN											1	0	3.09899e-07	0.004482	3.20966e-07	7	6				
LRRC45	201255	broad.mit.edu	37	17	79988565	79988565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79988565G>A	uc002kde.2	+	17	2137	c.1897G>A	c.(1897-1899)GAG>AAG	p.E633K	RAC3_uc002kdf.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	633	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGCTCCGGGAGGCGGAGAT	0.697		NaN											0	0	0	0.00308	0	7	3				
FOXK2	3607	broad.mit.edu	37	17	80478010	80478010	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:80478010C>T	uc002kfn.2	+	1	417	c.246C>T	c.(244-246)ATC>ATT	p.I82I	FOXK2_uc002kfm.1_Silent_p.I82I|FOXK2_uc010diu.2_Silent_p.I82I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	82	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACCTCGAGATCTTCAcgcccc	0.383		NaN											0	0	0	0.012213	0	27	20				
ST8SIA5	29906	broad.mit.edu	37	18	44260398	44260398	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:44260398C>T	uc002lcj.1	-	7	1306	c.738G>A	c.(736-738)CTG>CTA	p.L246L	ST8SIA5_uc002lci.1_Silent_p.L93L|ST8SIA5_uc010xcy.1_Silent_p.L282L|ST8SIA5_uc010xcz.1_Silent_p.L215L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	246	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGAAGGCAGGCAGCAGCACCG	0.607		NaN											0	0	0	0.00308	0	7	15				
ZBTB7C	201501	broad.mit.edu	37	18	45556270	45556270	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:45556270C>T	uc002lda.2	-	2	1237	c.1221G>A	c.(1219-1221)CTG>CTA	p.L407L	ZBTB7C_uc002ldb.2_Silent_p.L407L|ZBTB7C_uc010dnu.2_Silent_p.L416L|ZBTB7C_uc010dnv.2_Silent_p.L429L|ZBTB7C_uc010dnw.2_Silent_p.L407L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	407	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TGTGGATTTTCAGCTTGTCCT	0.577		NaN											0	0	0	0.00245	0	14	40				
KIAA1468	57614	broad.mit.edu	37	18	59954630	59954630	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:59954630G>A	uc002lil.2	+	26	3515	c.3300G>A	c.(3298-3300)CAG>CAA	p.Q1100Q	KIAA1468_uc010xel.1_Silent_p.Q1100Q|KIAA1468_uc002lim.2_Silent_p.Q778Q	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1100							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				ACAACTTACAGATTGTGGATT	0.348		NaN											0	0	0	0.011902	0	39	24				
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:70417577G>A	uc002lkw.2	-	9	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	421	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458		NaN											0	0	0	0.008871	0	16	9				
CELF5	60680	broad.mit.edu	37	19	3275921	3275921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3275921C>G	uc002lxm.2	+	4	499	c.462C>G	c.(460-462)TTC>TTG	p.F154L	CELF5_uc002lxl.1_Missense_Mutation_p.F154L|CELF5_uc010dtj.1_Missense_Mutation_p.F154L|CELF5_uc010xhg.1_Missense_Mutation_p.F40L|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	154	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						TGCGGCTGTTCCAGCCCTTCG	0.552		NaN											0	0	0	0.01441	0	37	27				
ZFR2	23217	broad.mit.edu	37	19	3816707	3816707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3816707G>A	uc002lyw.2	-	13	2080	c.2068C>T	c.(2068-2070)CGG>TGG	p.R690W		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCGATCCTCCGCAGCAGGCTG	0.687		NaN											0	0	0	0.009096	0	3	35				
ITGB1BP3	27231	broad.mit.edu	37	19	3938612	3938612	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3938612C>T	uc002lyz.3	+	5	468	c.178C>T	c.(178-180)CTG>TTG	p.L60L	ITGB1BP3_uc010xia.1_Silent_p.L65L	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	60					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGAGTCTCTGGACATGGA	0.682		NaN											0	0	0	0.006122	0	15	22				
SNAPC2	6618	broad.mit.edu	37	19	7986331	7986331	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:7986331C>G	uc002miw.1	+	2	230	c.207C>G	c.(205-207)CTC>CTG	p.L69L	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	69					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						TCCAGCAGCTCAAGGGCCGCG	0.622		NaN											0	0	0	0.003755	0	27	38				
ADAMTS10	81794	broad.mit.edu	37	19	8665898	8665898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:8665898C>G	uc002mkj.1	-	6	998	c.724G>C	c.(724-726)GAG>CAG	p.E242Q	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	242	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACCAGGGTCTCCACGTAGCGC	0.622		NaN											0	0	0	0.01441	0	45	60				
MUC16	94025	broad.mit.edu	37	19	9082528	9082528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082528G>T	uc002mkp.2	-	1	9491	c.9287C>A	c.(9286-9288)TCA>TAA	p.S3096*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3097	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTCTGGCTTGAGGTTAACTC	0.478		NaN											1	0	4.03479e-65	0.01441	4.44007e-65	82	73				
MUC16	94025	broad.mit.edu	37	19	9082810	9082810	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082810G>A	uc002mkp.2	-	1	9209	c.9005C>T	c.(9004-9006)TCA>TTA	p.S3002L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3003	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCATAGCTGATGATGCCTT	0.507		NaN											0	0	0	0.01441	0	50	55				
MUC16	94025	broad.mit.edu	37	19	9083056	9083056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9083056G>A	uc002mkp.2	-	1	8963	c.8759C>T	c.(8758-8760)TCA>TTA	p.S2920L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2921	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTTGCATCTGAGTCTGGAAT	0.463		NaN											0	0	0	0.00333	0	22	17				
ZNF559	84527	broad.mit.edu	37	19	9453579	9453579	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9453579G>T	uc002mlg.2	+	7	2099	c.1452G>T	c.(1450-1452)ATG>ATT	p.M484I	ZNF559_uc002mlf.2_Missense_Mutation_p.M253I|ZNF559_uc010dwl.1_Missense_Mutation_p.M253I|ZNF559_uc010xkn.1_Missense_Mutation_p.M476I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.M548I|ZNF559_uc010dwk.1_Missense_Mutation_p.M253I|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	484	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGTACACATGAGAACTCACA	0.433		NaN											1	0	4.3181e-19	0.013726	4.60784e-19	28	29				
ZNF177	7730	broad.mit.edu	37	19	9492184	9492184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9492184G>C	uc002mli.2	+	12	1360	c.697G>C	c.(697-699)GAG>CAG	p.E233Q	ZNF177_uc002mlj.2_Missense_Mutation_p.E183Q|ZNF177_uc002mlk.2_Missense_Mutation_p.E233Q	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	233					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCACACTGGAGAGAAGCCTTA	0.468		NaN											0	0	0	0.01441	0	55	101				
ZNF846	162993	broad.mit.edu	37	19	9868234	9868234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868234C>A	uc002mmb.1	-	6	2050	c.1519G>T	c.(1519-1521)GAA>TAA	p.E507*	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E378*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	507	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTTACATTCATATGGTTTT	0.393		NaN											1	0	3.39706e-21	0.01441	3.65666e-21	42	81				
ZNF846	162993	broad.mit.edu	37	19	9868950	9868950	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868950C>A	uc002mmb.1	-	6	1334	c.803G>T	c.(802-804)GGA>GTA	p.G268V	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.G139V|ZNF846_uc002mmc.1_Missense_Mutation_p.G139V	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	268	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAATTTAAGTCCTGTGGATTG	0.388		NaN											1	0	9.65021e-13	0.010818	1.0144e-12	28	40				
ZNF846	162993	broad.mit.edu	37	19	9869338	9869338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9869338C>T	uc002mmb.1	-	6	946	c.415G>A	c.(415-417)GAG>AAG	p.E139K	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.E10K|ZNF846_uc002mmc.1_Missense_Mutation_p.E10K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAAGTTTTCTCTCCAATGTGA	0.378		NaN											0	0	0	0.009535	0	27	47				
DNMT1	1786	broad.mit.edu	37	19	10266565	10266565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10266565C>T	uc002mng.2	-	18	1588	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	DNMT1_uc010xlc.1_Missense_Mutation_p.D486N|DNMT1_uc002mnh.2_Missense_Mutation_p.D365N|DNMT1_uc010xld.1_Missense_Mutation_p.D470N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	470	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCACCTCCATCAAAGCCAGTG	0.502		NaN											0	0	0	0.001855	0	10	16				
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10663612G>A	uc002mov.2	+	10	1414	c.1294G>A	c.(1294-1296)GAG>AAG	p.E432K	ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	432					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662		NaN											0	0	0	0.01441	0	79	90				
SMARCA4	6597	broad.mit.edu	37	19	11123777	11123777	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11123777C>T	uc002mqf.3	+	16	2711	c.2427C>T	c.(2425-2427)ATC>ATT	p.I809I	SMARCA4_uc010dxp.2_Silent_p.I809I|SMARCA4_uc010dxo.2_Silent_p.I809I|SMARCA4_uc002mqg.1_Silent_p.I809I|SMARCA4_uc010dxq.2_Silent_p.I809I|SMARCA4_uc010dxr.2_Silent_p.I809I|SMARCA4_uc002mqj.3_Silent_p.I809I|SMARCA4_uc010dxs.2_Silent_p.I809I|SMARCA4_uc010dxt.1_Silent_p.I29I	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	809	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCTCATCATCGTGCCTCTCT	0.483		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.003954	0	18	26				
ACP5	54	broad.mit.edu	37	19	11687649	11687649	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11687649C>G	uc002msg.3	-	3	417	c.271G>C	c.(271-273)GAG>CAG	p.E91Q	ACP5_uc002msh.3_Missense_Mutation_p.E91Q|ACP5_uc002msi.3_Missense_Mutation_p.E91Q|ACP5_uc002msj.3_Missense_Mutation_p.E91Q|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	91					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						AATACGTCCTCAAAGGTCTCC	0.552		NaN											0	0	0	0.01441	0	54	48				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12187443C>G	uc002mtb.2	+	4	1651	c.1508C>G	c.(1507-1509)CCT>CGT	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGAGAAACCCTATGAGTGTA	0.413		NaN											0	0	0	0.001984	0	6	55				
PRDX2	7001	broad.mit.edu	37	19	12911854	12911854	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12911854G>C	uc002mvd.2	-	3	283	c.133C>G	c.(133-135)CTG>GTG	p.L45V	PRDX2_uc002mve.1_Missense_Mutation_p.L45V	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	45	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						GTGAAGTCCAGAGGGTAGAAA	0.602		NaN											0	0	0	0.014323	0	20	25				
IER2	9592	broad.mit.edu	37	19	13264409	13264409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:13264409C>T	uc002mwr.2	+	2	737	c.409C>T	c.(409-411)CCG>TCG	p.P137S		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	137										kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGACTGGTCCCGAGCAAGAA	0.687		NaN									OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	2				
CYP4F12	66002	broad.mit.edu	37	19	15806821	15806821	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15806821C>T	uc002nbl.2	+	10	1252	c.1191C>T	c.(1189-1191)TTC>TTT	p.F397F		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					CAGCTCCCTTCATCTCCCGAT	0.617		NaN											0	0	0	0.01441	0	48	64				
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15807291C>G	uc002nbl.2	+	12	1427	c.1366C>G	c.(1366-1368)CTG>GTG	p.L456V		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					GAGGTCACCTCTGGCTTTTAT	0.557		NaN											0	0	0	0.01441	0	63	99				
CHERP	10523	broad.mit.edu	37	19	16631645	16631645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:16631645C>G	uc002nei.1	-	13	2267	c.2193G>C	c.(2191-2193)AAG>AAC	p.K731N	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.K270N	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	731	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						ACCTGTTCCTCTTCTCCTGGC	0.592		NaN											0	0	0	0.010771	0	36	47				
USHBP1	83878	broad.mit.edu	37	19	17362467	17362467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:17362467C>T	uc002nfs.1	-	12	1959	c.1846G>A	c.(1846-1848)GAA>AAA	p.E616K	USHBP1_uc002nfr.1_Missense_Mutation_p.E242K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E552K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	616	Potential.						PDZ domain binding			ovary(1)	1						GCCACCTGTTCCAGCTCCCTG	0.607		NaN											0	0	0	0.01441	0	46	82				
MAST3	23031	broad.mit.edu	37	19	18255941	18255941	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:18255941G>T	uc002nhz.3	+	23	2854	c.2854G>T	c.(2854-2856)GTT>TTT	p.V952F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	952	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S952L(1)		large_intestine(2)|ovary(2)|stomach(1)	5						GCCCCCCATCGTTATCCACAG	0.652		NaN											1	0	2.76863e-45	0.01441	3.03319e-45	74	105				
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:20808090C>T	uc002npb.1	-	4	743	c.593G>A	c.(592-594)GGG>GAG	p.G198E	ZNF626_uc002npc.1_Missense_Mutation_p.G122E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTAGGGTTTCCCTCCAGTATG	0.363		NaN											0	0	0	0.009096	0	3	44				
ZNF43	7594	broad.mit.edu	37	19	21990730	21990730	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:21990730C>T	uc002nqj.2	-	4	2239	c.2109G>A	c.(2107-2109)GAG>GAA	p.E703E	ZNF43_uc010ecv.2_Silent_p.E697E|ZNF43_uc002nql.2_Silent_p.E697E|ZNF43_uc002nqm.2_Silent_p.E697E|ZNF43_uc002nqk.2_Silent_p.E633E	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGTAGGGTTTCTCTCCAGTAT	0.363		NaN											0	0	0	0.014323	0	20	24				
U2AF1L4	199746	broad.mit.edu	37	19	36233667	36233667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:36233667C>G	uc002obg.2	-	8	822	c.513G>C	c.(511-513)GAG>GAC	p.E171D	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.E167Q|U2AF1L4_uc002obf.2_Missense_Mutation_p.E147D|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	Error:Variant_position_missing_in_Q8WU68_after_alignment					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTTCCTCTCTCGGGGATGG	0.602		NaN											0	0	0	0.01441	0	46	74				
CEACAM8	1088	broad.mit.edu	37	19	43097723	43097723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097723C>T	uc002oud.2	-	2	496	c.394G>A	c.(394-396)GAA>AAA	p.E132K	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	132	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GTTACTTCTTCACTCATAAGA	0.483		NaN											0	0	0	0.00623	0	39	80				
CEACAM8	1088	broad.mit.edu	37	19	43097727	43097727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097727C>A	uc002oud.2	-	2	492	c.390G>T	c.(388-390)ATG>ATT	p.M130I	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	130	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				CTTCTTCACTCATAAGATTTA	0.473		NaN											1	0	1.22674e-20	0.00874	1.31475e-20	43	85				
ZNF224	7767	broad.mit.edu	37	19	44612276	44612276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:44612276G>A	uc002oyh.1	+	6	2265	c.1963G>A	c.(1963-1965)GAG>AAG	p.E655K	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	655	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ATACAAATGTGAGGACTGTGG	0.433		NaN											0	0	0	0.013114	0	36	59				
PVRL2	5819	broad.mit.edu	37	19	45375333	45375333	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375333C>T	uc002ozw.1	+	3	1092	c.702C>T	c.(700-702)GTC>GTT	p.V234V	PVRL2_uc002ozv.2_Silent_p.V234V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	234	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CAGATGGTGTCACGGTCACCT	0.607		NaN											0	0	0	0.01441	0	43	49				
PVRL2	5819	broad.mit.edu	37	19	45375398	45375398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375398C>G	uc002ozw.1	+	3	1157	c.767C>G	c.(766-768)TCT>TGT	p.S256C	PVRL2_uc002ozv.2_Missense_Mutation_p.S256C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	256	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTGACCCTCTCTGTACGCTGT	0.547		NaN											0	0	0	0.01441	0	65	67				
PPP1R13L	10848	broad.mit.edu	37	19	45899848	45899848	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45899848G>A	uc002pbn.2	-	4	744	c.667C>T	c.(667-669)CTA>TTA	p.L223L	PPP1R13L_uc002pbo.2_Silent_p.L223L|PPP1R13L_uc002pbp.2_Silent_p.L223L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	223	Pro-rich.			L -> I (in Ref. 3; AAW51146).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGGAGCCTAGCAGGGAGCTC	0.756		NaN											0	0	0	0.00245	0	13	9				
SYMPK	8189	broad.mit.edu	37	19	46328437	46328437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:46328437C>T	uc002pdn.2	-	18	2727	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K	SYMPK_uc002pdo.1_Missense_Mutation_p.E828K|SYMPK_uc002pdp.1_Missense_Mutation_p.E828K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	828					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCGGCTGCTCAATGACCCTC	0.652		NaN											0	0	0	0.01441	0	56	68				
ZC3H4	23211	broad.mit.edu	37	19	47597706	47597706	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:47597706C>T	uc002pga.3	-	3	359	c.321G>A	c.(319-321)CGG>CGA	p.R107R	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	107	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCTTTCTTCCGTTTCCGCT	0.537		NaN											0	0	0	0.01441	0	124	212				
HRC	3270	broad.mit.edu	37	19	49657096	49657096	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49657096C>G	uc002pmv.2	-	1	1586	c.1399G>C	c.(1399-1401)GGA>CGA	p.G467R		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	467					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTGTGTGTCCTGGGGGGTGA	0.547		NaN											0	0	0	0.00874	0	33	58				
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49852054G>C	uc002pnj.2	-	8	732	c.641C>G	c.(640-642)TCG>TGG	p.S214W	TEAD2_uc002png.2_Missense_Mutation_p.S217W|TEAD2_uc002pnh.2_Missense_Mutation_p.S218W|TEAD2_uc002pni.2_Missense_Mutation_p.S217W|TEAD2_uc010yao.1_Missense_Mutation_p.S86W|TEAD2_uc010emw.2_Missense_Mutation_p.S217W	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Transcriptional activation (Potential).|Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572		NaN											0	0	0	0.010729	0	11	7				
SPIB	6689	broad.mit.edu	37	19	50926888	50926888	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:50926888G>A	uc002psd.2	+	5	391	c.366G>A	c.(364-366)CCG>CCA	p.P122P	SPIB_uc002pse.2_Silent_p.P122P|SPIB_uc010ycc.1_Silent_p.P31P	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	122					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CATATGCCCCGTACCCCAGCC	0.647		NaN											0	0	0	0.009535	0	22	29				
KLK8	11202	broad.mit.edu	37	19	51503318	51503318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:51503318C>T	uc002pur.1	-	4	606	c.427G>A	c.(427-429)GAT>AAT	p.D143N	KLK8_uc002puq.1_Missense_Mutation_p.D188N|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.D143N|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	143	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGCAATGATCTGCCAGGCTG	0.587		NaN											0	0	0	0.004007	0	16	23				
ZNF600	162966	broad.mit.edu	37	19	53269283	53269283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53269283G>A	uc002qab.3	-	3	2012	c.1726C>T	c.(1726-1728)CAT>TAT	p.H576Y		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	576	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCCAGTATGAAGTCTACGA	0.438		NaN											0	0	0	0.01441	0	113	117				
ZNF320	162967	broad.mit.edu	37	19	53384365	53384365	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53384365G>A	uc002qag.2	-	4	1205	c.1014C>T	c.(1012-1014)TTC>TTT	p.F338F	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.F284F|ZNF320_uc002qai.2_Silent_p.F338F	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	338	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCGACTGAAAACTTTGT	0.423		NaN											0	0	0	0.005524	0	36	36				
NLRP12	91662	broad.mit.edu	37	19	54313767	54313767	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:54313767C>T	uc002qch.3	-	3	1366	c.1146G>A	c.(1144-1146)GAG>GAA	p.E382E	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.E382E|NLRP12_uc002qcj.3_Silent_p.E382E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.E382E	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	382	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCCGCCTGCTCTGCATTGT	0.562		NaN											0	0	0	0.01441	0	104	184				
KIR3DP1	768329	broad.mit.edu	37	19	55267599	55267599	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55267599A>C	uc010yfi.1	+	2	69	c.68A>C	c.(67-69)GAG>GCG	p.E23A	KIR2DS4_uc010yfj.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_001015070	NP_001015070			killer-cell Ig-like receptor												0				GBM - Glioblastoma multiforme(193;0.0192)		TGGCCACATGAGGGTGAGTCC	0.532		NaN											0	0	0	0.00278	0	15	129				
NLRP2	55655	broad.mit.edu	37	19	55494122	55494122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55494122C>G	uc002qij.2	+	6	1142	c.1056C>G	c.(1054-1056)ATC>ATG	p.I352M	NLRP2_uc010yfp.1_Missense_Mutation_p.I329M|NLRP2_uc010esn.2_Missense_Mutation_p.I328M|NLRP2_uc010eso.2_Missense_Mutation_p.I349M|NLRP2_uc010esp.2_Missense_Mutation_p.I330M	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	352	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCCGATCTACATAAGGG	0.607		NaN											0	0	0	0.010729	0	10	13				
C19orf51	352909	broad.mit.edu	37	19	55673126	55673126	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55673126G>A	uc002qji.1	-	6	582	c.548C>T	c.(547-549)GCG>GTG	p.A183V	C19orf51_uc002qjh.1_5'UTR|C19orf51_uc002qjj.1_Missense_Mutation_p.A230V|C19orf51_uc002qjk.1_Missense_Mutation_p.A129V|C19orf51_uc002qjl.1_Missense_Mutation_p.A251V			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	183											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CATGGGGAACGCCTGGGGCCC	0.711		NaN											0	0	0	0.000602	0	4	1				
LAPTM4A	9741	broad.mit.edu	37	2	20240714	20240714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:20240714A>T	uc002rdm.2	-	2	678	c.170T>A	c.(169-171)ATG>AAG	p.M57K	LAPTM4A_uc002rdn.2_Missense_Mutation_p.M15K|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M57K	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	57					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGCTGGCATGGAGTTTGG	0.373		NaN											0	0	0	0.008291	0	8	134				
ADCY3	109	broad.mit.edu	37	2	25044461	25044461	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:25044461C>T	uc002rfs.3	-	19	3251	c.3052G>A	c.(3052-3054)GAC>AAC	p.D1018N	ADCY3_uc002rfr.3_Missense_Mutation_p.D605N|ADCY3_uc010ykm.1_Missense_Mutation_p.D1019N	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1018	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGCGAAGTCGGCCAGGTCA	0.612		NaN											0	0	0	0.01441	0	60	192				
CAD	790	broad.mit.edu	37	2	27465812	27465812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27465812C>T	uc002rji.2	+	42	6613	c.6451C>T	c.(6451-6453)CGA>TGA	p.R2151*	CAD_uc010eyw.2_Nonsense_Mutation_p.R2088*	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	2151	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAAGGAACGATTTGGCTC	0.552		NaN											0	0	0	0.010504	0	14	42				
GPN1	11321	broad.mit.edu	37	2	27858051	27858051	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27858051G>A	uc010ymc.1	+	7	537	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S146S|GPN1_uc010yma.1_Silent_p.S79S|GPN1_uc010ymb.1_Silent_p.S63S|GPN1_uc010ymd.1_Silent_p.S53S|GPN1_uc010yme.1_Silent_p.S172S|GPN1_uc010ezg.1_Silent_p.S53S	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TGGACACATCGAGAAGTACCA	0.443		NaN											0	0	0	0.01441	0	65	44				
CYP1B1	1545	broad.mit.edu	37	2	38298398	38298398	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:38298398C>A	uc002rqo.2	-	4	1502	c.1099G>T	c.(1099-1101)GAC>TAC	p.D367Y		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	367					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	GGCAGACGGTCCCTCCCCACG	0.517		NaN											1	0	3.4345e-17	0.011902	3.64915e-17	35	22				
SPTBN1	6711	broad.mit.edu	37	2	54880916	54880916	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54880916C>T	uc002rxu.2	+	27	5997	c.5748C>T	c.(5746-5748)TTC>TTT	p.F1916F	SPTBN1_uc002rxx.2_Silent_p.F1903F|SPTBN1_uc002rxy.2_Silent_p.F61F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1916	Spectrin 16.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGTTCCGCTTCTTCAGCATGG	0.597		NaN											0	0	0	0.00632	0	24	13				
SPTBN1	6711	broad.mit.edu	37	2	54882218	54882218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54882218C>G	uc002rxu.2	+	28	6083	c.5834C>G	c.(5833-5835)TCT>TGT	p.S1945C	SPTBN1_uc002rxx.2_Missense_Mutation_p.S1932C|SPTBN1_uc002rxy.2_Missense_Mutation_p.S90C|SPTBN1_uc010you.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1945	Spectrin 16.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GATGTATCATCTGTTGAACTC	0.348		NaN											0	0	0	0.008291	0	10	11				
USP34	9736	broad.mit.edu	37	2	61575533	61575533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:61575533C>G	uc002sbe.2	-	15	1779	c.1757G>C	c.(1756-1758)AGT>ACT	p.S586T		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	586					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AGATCCATCACTATGCCCACT	0.483		NaN											0	0	0	0.009096	0	3	196				
ST3GAL5	8869	broad.mit.edu	37	2	86090557	86090557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:86090557G>A	uc002sqq.1	-	2	263	c.134C>T	c.(133-135)CCT>CTT	p.P45L	ST3GAL5_uc010ysy.1_Missense_Mutation_p.P45L|ST3GAL5_uc010ysz.1_Missense_Mutation_p.P45L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P22L	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	45	Cytoplasmic (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						TTGCAGGGAAGGCCTCGAGCA	0.498		NaN											0	0	0	0.004007	0	15	52				
VWA3B	200403	broad.mit.edu	37	2	98810866	98810866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:98810866G>C	uc002syo.2	+	12	1912	c.1648G>C	c.(1648-1650)GAT>CAT	p.D550H	VWA3B_uc010yvh.1_Missense_Mutation_p.D400H|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.D69H|VWA3B_uc002sym.2_Missense_Mutation_p.D550H|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D207H|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	550	VWFA.									ovary(3)|large_intestine(2)|skin(1)	6						TGTGAAGTTTGATGGTCAAGC	0.373		NaN											0	0	0	0.01441	0	78	57				
C2orf15	150590	broad.mit.edu	37	2	99767109	99767109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:99767109G>A	uc002szk.2	+	4	589	c.190G>A	c.(190-192)GAA>AAA	p.E64K	TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	hypothetical protein LOC150590	64											0						ACGAGGGACTGAAAAAAGCAG	0.363		NaN											0	0	0	0.003163	0	12	14				
PTPN4	5775	broad.mit.edu	37	2	120712877	120712877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:120712877G>C	uc002tmf.1	+	20	2729	c.1958G>C	c.(1957-1959)GGA>GCA	p.G653A	PTPN4_uc010flj.1_Missense_Mutation_p.G366A|PTPN4_uc010yyr.1_Missense_Mutation_p.G286A	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	653						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTTATCACTGGAACAGTCCTG	0.398		NaN											0	0	0	0.003954	0	17	23				
CYP27C1	339761	broad.mit.edu	37	2	127951379	127951379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:127951379G>C	uc002tod.2	-	6	915	c.784C>G	c.(784-786)CTG>GTG	p.L262V		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	262						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTCGGAATCAGATACCCGCCA	0.597		NaN											0	0	0	0.004656	0	26	24				
LRP1B	53353	broad.mit.edu	37	2	141128300	141128300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:141128300C>T	uc002tvj.1	-	71	11959	c.10987G>A	c.(10987-10989)GAT>AAT	p.D3663N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3663	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCTTCATCACTGCCATCC	0.398		NaN								TSP Lung(27;0.18)			0	0	0	0.01441	0	118	102				
ACVR2A	92	broad.mit.edu	37	2	148653908	148653908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:148653908T>G	uc002twg.2	+	3	363	c.94T>G	c.(94-96)TTC>GTC	p.F32V	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F32V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	32	Extracellular (Potential).				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGAGTGTCTTTTCTTTAATGC	0.348		NaN											0	0	0	0.01441	0	34	22				
NEB	4703	broad.mit.edu	37	2	152397312	152397312	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:152397312G>C	uc010fnx.2	-	109	15774	c.15583C>G	c.(15583-15585)CTG>GTG	p.L5195V	NEB_uc002txr.2_Missense_Mutation_p.L1618V	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5195	Nebulin 141.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAACATACAGATACTGAATA	0.418		NaN											0	0	0	0.004007	0	15	24				
MYO3B	140469	broad.mit.edu	37	2	171070928	171070928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:171070928C>G	uc002ufy.2	+	4	504	c.361C>G	c.(361-363)CTA>GTA	p.L121V	MYO3B_uc002ufv.2_Missense_Mutation_p.L108V|MYO3B_uc010fqb.1_Missense_Mutation_p.L108V|MYO3B_uc002ufz.2_Missense_Mutation_p.L121V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.L108V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	121	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						TGTCAAAGGTCTACTCAGATG	0.483		NaN											0	0	0	0.01441	0	46	48				
ITGA6	3655	broad.mit.edu	37	2	173352763	173352763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:173352763C>T	uc002uhp.1	+	18	2602	c.2399C>T	c.(2398-2400)TCG>TTG	p.S800L	ITGA6_uc010zdy.1_Missense_Mutation_p.S681L|ITGA6_uc002uho.1_Missense_Mutation_p.S800L|ITGA6_uc010fqm.1_Missense_Mutation_p.S446L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	839	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTATCGGTCTCGGGGTAAGTG	0.333		NaN											0	0	0	0.006999	0	33	99				
PLEKHA3	65977	broad.mit.edu	37	2	179358588	179358588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:179358588G>A	uc002umn.2	+	4	720	c.322G>A	c.(322-324)GAA>AAA	p.E108K		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	108						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAATAAGTGAAACCAGTGA	0.308		NaN											0	0	0	0.004482	0	6	24				
BMPR2	659	broad.mit.edu	37	2	203397422	203397422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:203397422G>C	uc002uzf.3	+	9	2391	c.1243G>C	c.(1243-1245)GAG>CAG	p.E415Q	BMPR2_uc010ftr.2_Missense_Mutation_p.E415Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	415	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AATCTATTGGGAGATATTTAT	0.373		NaN											0	0	0	0.007291	0	23	19				
IKZF2	22807	broad.mit.edu	37	2	213914495	213914495	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:213914495G>T	uc002vem.2	-	5	685	c.516C>A	c.(514-516)TTC>TTA	p.F172L	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.F119L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F146L|IKZF2_uc002vel.2_Missense_Mutation_p.F93L|IKZF2_uc010fuw.2_Translation_Start_Site|IKZF2_uc010fux.2_Translation_Start_Site|IKZF2_uc010fuy.2_Missense_Mutation_p.F146L|IKZF2_uc002ven.2_Missense_Mutation_p.F146L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	172	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTAGCTACAGAAAGGACATT	0.473		NaN											1	0	2.41591e-17	0.004656	2.57245e-17	23	37				
NHEJ1	79840	broad.mit.edu	37	2	220022246	220022246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220022246G>C	uc002vjp.3	-	3	484	c.338C>G	c.(337-339)TCT>TGT	p.S113C	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	113					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		GGGGAGGCCAGAGAGCTCACT	0.527		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	0.005524	0	32	33				
C2orf24	27013	broad.mit.edu	37	2	220041503	220041503	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220041503G>A	uc002vju.3	-	1	200	c.48C>T	c.(46-48)CTC>CTT	p.L16L	C2orf24_uc002vjv.2_Silent_p.L16L|FAM134A_uc002vjw.3_5'Flank|FAM134A_uc010fwc.2_5'Flank	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	16					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding				0		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCCGGCGAGGGAGAAGG	0.711		NaN											0	0	0	0.001984	0	4	3				
STK11IP	114790	broad.mit.edu	37	2	220470931	220470931	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220470931G>C	uc002vml.2	+	10	940	c.897G>C	c.(895-897)GGG>GGC	p.G299G	STK11IP_uc010zlk.1_Silent_p.G288G|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Silent_p.G288G	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	299	LRR 8.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGAGGGGAACCCTCTTT	0.632		NaN									OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	2	6				
CCDC140	151278	broad.mit.edu	37	2	223169071	223169071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:223169071G>C	uc002vnb.1	+	2	834	c.450G>C	c.(448-450)AAG>AAC	p.K150N		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	150	Potential.										0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aagagagaaagagaagaaaag	0.398		NaN											0	0	0	0.000602	0	5	2				
TRIP12	9320	broad.mit.edu	37	2	230661454	230661454	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:230661454G>A	uc002vpw.1	-	24	3553	c.3444C>T	c.(3442-3444)GTC>GTT	p.V1148V	TRIP12_uc002vpx.1_Silent_p.V1196V|TRIP12_uc002vpy.1_Silent_p.V878V|TRIP12_uc010zlz.1_RNA	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1148					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGACTCTGAGACTATGCTAC	0.373		NaN											0	0	0	0.003954	0	19	43				
RNPEPL1	57140	broad.mit.edu	37	2	241516112	241516112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:241516112C>G	uc002vzi.2	+	9	1571	c.978C>G	c.(976-978)ATC>ATG	p.I326M	RNPEPL1_uc010fzf.2_Missense_Mutation_p.I232M|RNPEPL1_uc002vzj.2_Translation_Start_Site	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	326					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCATTGACATCTCCAAGTGGA	0.672		NaN											0	0	0	0.01441	0	48	30				
NSFL1C	55968	broad.mit.edu	37	20	1433191	1433191	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:1433191C>A	uc002wfc.2	-	7	1680	c.732G>T	c.(730-732)GTG>GTT	p.V244V	NSFL1C_uc002wfd.2_Silent_p.V133V|NSFL1C_uc002wfe.2_Silent_p.V213V|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.V10V	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	244	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						CTTTGGGCTTCACAAAGTCCT	0.567		NaN											1	0	2.1089e-46	0.01441	2.31557e-46	79	84				
TMC2	117532	broad.mit.edu	37	20	2582792	2582792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:2582792G>C	uc002wgf.1	+	11	1273	c.1258G>C	c.(1258-1260)GAA>CAA	p.E420Q	TMC2_uc002wgg.1_Missense_Mutation_p.E404Q|TMC2_uc010zpw.1_Missense_Mutation_p.E252Q|TMC2_uc010zpx.1_Missense_Mutation_p.E251Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	420	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						GAGTAACAAAGAAGAAAATAT	0.403		NaN											0	0	0	0.01441	0	40	32				
TRMT6	51605	broad.mit.edu	37	20	5927104	5927104	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:5927104C>T	uc002wmh.1	-	2	326	c.204G>A	c.(202-204)GTG>GTA	p.V68V	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	68					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						CTCCACTGGTCACTTCAAATG	0.418		NaN											0	0	0	0.003755	0	31	55				
PAK7	57144	broad.mit.edu	37	20	9520184	9520184	+	Silent	SNP	G	G	A	rs141553527		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:9520184G>A	uc002wnl.2	-	11	2630	c.2085C>T	c.(2083-2085)CTC>CTT	p.L695L	PAK7_uc002wnk.2_Silent_p.L695L|PAK7_uc002wnj.2_Silent_p.L695L|PAK7_uc010gby.1_Silent_p.L608L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	695	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			ATGGATGTCCGAGGAGTTCCT	0.512		NaN											0	0	0	0.01441	0	87	137				
MKKS	8195	broad.mit.edu	37	20	10389350	10389350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:10389350G>A	uc002wnt.1	-	4	1974	c.1087C>T	c.(1087-1089)CTT>TTT	p.L363F	MKKS_uc002wnu.1_Missense_Mutation_p.L363F|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	363	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						TTAGGAATAAGATGAAAAAAA	0.398		NaN							Bardet-Biedl_syndrome				0	0	0	0.00278	0	23	32				
GTSF1L	149699	broad.mit.edu	37	20	42354926	42354926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:42354926C>G	uc002xld.2	-	1	717	c.409G>C	c.(409-411)GAG>CAG	p.E137Q	GTSF1L_uc002xlc.2_Missense_Mutation_p.E112Q	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like isoform 1	137							metal ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACTGGTCTCTCTTGCTGAC	0.368		NaN											0	0	0	0.01441	0	67	39				
SLC35C2	51006	broad.mit.edu	37	20	44984459	44984459	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:44984459G>T	uc002xro.2	-	5	931	c.390C>A	c.(388-390)ATC>ATA	p.I130I	SLC35C2_uc002xrp.2_Silent_p.I130I|SLC35C2_uc002xrq.2_Silent_p.I130I|SLC35C2_uc002xrr.2_Silent_p.I130I|SLC35C2_uc010zxn.1_Silent_p.I16I|SLC35C2_uc010zxo.1_Silent_p.I16I|SLC35C2_uc010zxp.1_Silent_p.I159I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	130					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCAGCTTGAAGATCAGAGAGA	0.517		NaN											1	0	2.29192e-23	0.01441	2.47246e-23	45	123				
PREX1	57580	broad.mit.edu	37	20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47260976G>C	uc002xtw.1	-	27	3595	c.3572C>G	c.(3571-3573)TCC>TGC	p.S1191C	PREX1_uc002xtv.1_Missense_Mutation_p.S488C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1191					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562		NaN											0	0	0	0.006999	0	30	24				
STAU1	6780	broad.mit.edu	37	20	47736621	47736621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47736621C>G	uc002xud.2	-	9	1422	c.1011G>C	c.(1009-1011)AAG>AAC	p.K337N	STAU1_uc002xua.2_Missense_Mutation_p.K256N|STAU1_uc002xub.2_Missense_Mutation_p.K262N|STAU1_uc002xuc.2_Missense_Mutation_p.K256N|STAU1_uc002xue.2_Missense_Mutation_p.K256N|STAU1_uc002xuf.2_Missense_Mutation_p.K262N|STAU1_uc002xug.2_Missense_Mutation_p.K337N	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	337	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCCACCTTCTTGTTGGTGC	0.522		NaN											0	0	0	0.01441	0	41	19				
MOCS3	27304	broad.mit.edu	37	20	49576100	49576100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:49576100G>A	uc002xvy.1	+	1	738	c.721G>A	c.(721-723)GAC>AAC	p.D241N	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	241					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						CAACTGCGCGGACGGCGGGGT	0.622		NaN											0	0	0	0.01441	0	64	173				
ZFP64	55734	broad.mit.edu	37	20	50769825	50769825	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:50769825G>C	uc002xwl.2	-	6	1255	c.906C>G	c.(904-906)CTC>CTG	p.L302L	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.L300L|ZFP64_uc002xwn.2_Silent_p.L248L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGTGCGACTTGAGGTTCCCCT	0.557		NaN											0	0	0	0.01441	0	45	147				
CTCFL	140690	broad.mit.edu	37	20	56090809	56090809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:56090809C>G	uc010gix.1	-	5	1803	c.1141G>C	c.(1141-1143)GAT>CAT	p.D381H	CTCFL_uc010giw.1_Missense_Mutation_p.D381H|CTCFL_uc002xym.2_Missense_Mutation_p.D381H|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D381H|CTCFL_uc010gjb.1_Missense_Mutation_p.D381H|CTCFL_uc010gjc.1_Missense_Mutation_p.D381H|CTCFL_uc010gjd.1_Missense_Mutation_p.D381H|CTCFL_uc010gje.2_Missense_Mutation_p.D381H|CTCFL_uc010gjf.2_Missense_Mutation_p.D176H|CTCFL_uc010gjg.2_Missense_Mutation_p.D113H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.D176H|CTCFL_uc010gjj.1_Missense_Mutation_p.D381H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	381	C2H2-type 5.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTAGGTATCTCTGCTGGCA	0.478		NaN											0	0	0	0.01441	0	174	105				
TAF4	6874	broad.mit.edu	37	20	60582637	60582637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:60582637G>A	uc002ybs.2	-	6	1940	c.1940C>T	c.(1939-1941)TCT>TTT	p.S647F		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	647	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGAGGTGAAGAATTAAGTTC	0.458		NaN											0	0	0	0.01441	0	134	75				
ARFGAP1	55738	broad.mit.edu	37	20	61910306	61910306	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:61910306G>C	uc002yem.2	+	7	698	c.586G>C	c.(586-588)GAA>CAA	p.E196Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.E143Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E83Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E196Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E196Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	196					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					TCAGAAGAAAGAAGATGACTT	0.597		NaN											0	0	0	0.01441	0	63	23				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	Silent	SNP	G	G	A	rs8130203	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:11058248G>A	uc002yit.1	-	3	400	c.192C>T	c.(190-192)ATC>ATT	p.I64I	BAGE_uc002yiw.1_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433		NaN											0	0	0	0.000602	0	4	133				
MX2	4600	broad.mit.edu	37	21	42752066	42752066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:42752066G>C	uc002yzf.1	+	4	669	c.565G>C	c.(565-567)GAG>CAG	p.E189Q	MX2_uc011aer.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	189					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGTGGAGAAAGAGATACACAA	0.577		NaN											0	0	0	0.00874	0	33	9				
RRP1B	23076	broad.mit.edu	37	21	45093792	45093792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:45093792G>A	uc002zdk.2	+	4	427	c.313G>A	c.(313-315)GAA>AAA	p.E105K		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	105					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CATGAATCGAGAATGGAAAGG	0.408		NaN											0	0	0	0.013114	0	40	6				
KRTAP10-7	386675	broad.mit.edu	37	21	46020560	46020560	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:46020560G>A	uc002zfn.3	+	1	64	c.39G>A	c.(37-39)CTG>CTA	p.L13L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	13						keratin filament					0						CCAGCGACCTGAGCTACGGCA	0.537		NaN											0	0	0	0.012213	0	24	31				
COL6A1	1291	broad.mit.edu	37	21	47419594	47419594	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47419594G>A	uc002zhu.1	+	27	1866	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'Flank|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	588	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACCAAGGACCGCCTGGGCCGG	0.632		NaN											0	0	0	0.010504	0	17	17				
PCNT	5116	broad.mit.edu	37	21	47855826	47855826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47855826G>A	uc002zji.3	+	39	8868	c.8761G>A	c.(8761-8763)GAA>AAA	p.E2921K	PCNT_uc002zjj.2_Missense_Mutation_p.E2724K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2921	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GCGAGAATTAGAACTGCAGCG	0.433		NaN											0	0	0	0.012319	0	20	38				
TUBA8	51807	broad.mit.edu	37	22	18561373	18561373	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:18561373G>C	uc002znr.2	+	1	687	c.-336_splice	c.e1+1		PEX26_uc002znp.3_Splice_Site_p.T77_splice|PEX26_uc002znq.3_Splice_Site_p.T77_splice|uc002zns.2_Nonsense_Mutation_p.Y50*|PEX26_uc002znt.2_Splice_Site_p.T77_splice	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8						microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CCGCGGGCACGTACGTGCTGG	0.647		NaN											0	0	0	0.001168	0	5	7				
SEPT5	5413	broad.mit.edu	37	22	19709361	19709361	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19709361T>C	uc002zpv.1	+	10	956	c.831T>C	c.(829-831)CAT>CAC	p.H277H	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	277					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					ACCAGGCGCATTGCGACTTCG	0.632		NaN											0	0	0	0.001984	0	7	62				
ARVCF	421	broad.mit.edu	37	22	19961739	19961739	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19961739C>T	uc002zqz.2	-	12	2255	c.1984G>A	c.(1984-1986)GAG>AAG	p.E662K	ARVCF_uc002zqy.2_Missense_Mutation_p.E178K	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	662	ARM 7.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CGTACCACCTCGGGCTGGTAC	0.632		NaN											0	0	0	0.006122	0	15	16				
SERPIND1	3053	broad.mit.edu	37	22	21133814	21133814	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:21133814G>C	uc002ztb.1	+	2	281	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E100Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	72	Chemotactic activity.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGATTCCAGAGGGGGAGGA	0.517		NaN											0	0	0	0.007291	0	23	42				
GAL3ST1	9514	broad.mit.edu	37	22	30950948	30950948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:30950948G>A	uc003aig.1	-	4	1404	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	GAL3ST1_uc003aih.1_Missense_Mutation_p.R422W|GAL3ST1_uc003aii.1_Missense_Mutation_p.R422W|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R422W	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	422	Lumenal (Potential).			R -> E (in Ref. 1; AA sequence).	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGTCACCACCGCAGGAAATCG	0.687		NaN											0	0	0	0.009096	0	3	22				
EIF3L	51386	broad.mit.edu	37	22	38245481	38245481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:38245481G>A	uc003auf.2	+	1	112	c.25G>A	c.(25-27)GAG>AAG	p.E9K	EIF3L_uc003aue.1_Missense_Mutation_p.E9K|EIF3L_uc011ann.1_Missense_Mutation_p.E9K|EIF3L_uc003aug.2_5'Flank|MIR659_hsa-mir-659|MI0003683_5'Flank	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	9						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						TGATGATTATGAGTCTGAGGT	0.647		NaN											0	0	0	0.01441	0	100	150				
SREBF2	6721	broad.mit.edu	37	22	42280950	42280950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:42280950G>C	uc003bbi.2	+	11	2312	c.2143G>C	c.(2143-2145)GAG>CAG	p.E715Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	715	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						CACACTGGTTGAGATCCATCT	0.587		NaN											0	0	0	0.01441	0	41	56				
MTMR14	64419	broad.mit.edu	37	3	9743604	9743604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:9743604G>C	uc003brz.2	+	19	2024	c.1900G>C	c.(1900-1902)GAG>CAG	p.E634Q	MTMR14_uc003bsa.2_Missense_Mutation_p.E582Q|MTMR14_uc003bsb.2_Missense_Mutation_p.E522Q|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.E276Q|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	634						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GGGCCTGCTGGAGCAATTTGC	0.617		NaN											0	0	0	0.01441	0	49	76				
HRH1	3269	broad.mit.edu	37	3	11300932	11300932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:11300932C>T	uc010hdr.2	+	2	551	c.209C>T	c.(208-210)TCG>TTG	p.S70L	HRH1_uc010hds.2_Missense_Mutation_p.S70L|HRH1_uc010hdt.2_Missense_Mutation_p.S70L|HRH1_uc003bwb.3_Missense_Mutation_p.S70L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	70	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTCAGCCTCTCGGTGGCGGAC	0.577		NaN											0	0	0	0.01441	0	43	45				
NGLY1	55768	broad.mit.edu	37	3	25805630	25805630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:25805630G>C	uc003cdl.2	-	3	527	c.419C>G	c.(418-420)TCA>TGA	p.S140*	NGLY1_uc010hfg.2_Nonsense_Mutation_p.S140*|NGLY1_uc003cdm.2_Nonsense_Mutation_p.S140*|NGLY1_uc011awo.1_Nonsense_Mutation_p.S98*|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	140					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						ACTGGGATTTGAAGATGGTGT	0.448		NaN											0	0	0	0.01441	0	47	55				
KIF15	56992	broad.mit.edu	37	3	44835802	44835802	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:44835802G>C	uc003cnx.3	+	8	882	c.733G>C	c.(733-735)GAG>CAG	p.E245Q	KIF15_uc010hiq.2_Missense_Mutation_p.E148Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	245	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTACAATAGAGTCAATGGA	0.428		NaN											0	0	0	0.010771	0	40	66				
SEMA3F	6405	broad.mit.edu	37	3	50222226	50222226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:50222226G>A	uc003cyj.2	+	13	1633	c.1435G>A	c.(1435-1437)GAG>AAG	p.E479K	SEMA3F_uc003cyk.2_Missense_Mutation_p.E448K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	479	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGGGCGCTATGAGGTGCTTTT	0.682		NaN											0	0	0	0.006122	0	15	16				
GLT8D1	55830	broad.mit.edu	37	3	52730304	52730304	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:52730304G>A	uc003dfi.3	-	6	617	c.478C>T	c.(478-480)CTG>TTG	p.L160L	GLT8D1_uc003dfj.2_Silent_p.L160L|GLT8D1_uc003dfk.2_Silent_p.L160L|GLT8D1_uc003dfl.2_Silent_p.L160L|GLT8D1_uc003dfm.2_Silent_p.L160L|GLT8D1_uc003dfn.2_Silent_p.L160L|GLT8D1_uc003dfo.1_Silent_p.L160L	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	160	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGAACCAGAATTGGCAAG	0.418		NaN											0	0	0	0.009096	0	3	61				
ACTR8	93973	broad.mit.edu	37	3	53908332	53908332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:53908332C>T	uc003dhd.2	-	8	1030	c.971G>A	c.(970-972)CGA>CAA	p.R324Q	ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.R213Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	324					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GAACCCAGCTCGCTGCATTAG	0.398		NaN											0	0	0	0.013726	0	29	28				
PRICKLE2	166336	broad.mit.edu	37	3	64132939	64132939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:64132939C>G	uc003dmf.2	-	7	1813	c.1227G>C	c.(1225-1227)CAG>CAC	p.Q409H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	409						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTGGTTCTGCTCCATCT	0.612		NaN											0	0	0	0.01441	0	50	73				
ROBO2	6092	broad.mit.edu	37	3	77623749	77623749	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:77623749G>T	uc003dpy.3	+	14	2714	c.2071G>T	c.(2071-2073)GTC>TTC	p.V691F	ROBO2_uc003dpz.2_Missense_Mutation_p.V695F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V695F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	691	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATGCCAAAGTCCCGACTGA	0.458		NaN											1	0	0.004672	0.004672	0.00475888	3	92				
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:101060619G>C	uc003dut.2	-	15	2222	c.2111C>G	c.(2110-2112)TCA>TGA	p.S704*	SENP7_uc003duu.2_Nonsense_Mutation_p.S639*|SENP7_uc003duv.2_Nonsense_Mutation_p.S671*|SENP7_uc003duw.2_Nonsense_Mutation_p.S638*|SENP7_uc003dux.2_Nonsense_Mutation_p.S540*	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	704					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATCTGTGTTTGAGGGCTGACA	0.418		NaN											0	0	0	0.007413	0	14	22				
ATG3	64422	broad.mit.edu	37	3	112255401	112255401	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:112255401C>G	uc003dzd.2	-	10	825	c.715G>C	c.(715-717)GAT>CAT	p.D239H	ATG3_uc003dzc.2_Missense_Mutation_p.D239H|ATG3_uc010hqe.2_Missense_Mutation_p.D239H	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Apg3p	239					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			ovary(3)	3						TTCACATGATCCTGACTGATG	0.368		NaN											0	0	0	0.003755	0	35	50				
DIRC2	84925	broad.mit.edu	37	3	122552196	122552196	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122552196A>T	uc003efw.3	+	4	875	c.736A>T	c.(736-738)ACA>TCA	p.T246S	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.T84S	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	246	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		ATTTTCTGCAACACTAGCTTA	0.393		NaN											0	0	0	0.003954	0	21	152				
SEMA5B	54437	broad.mit.edu	37	3	122646670	122646670	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122646670G>T	uc003efz.1	-	8	1121	c.817C>A	c.(817-819)CGC>AGC	p.R273S	SEMA5B_uc011bju.1_Missense_Mutation_p.R215S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273S|SEMA5B_uc010hro.1_Missense_Mutation_p.R215S|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	273	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCAGTGCGAAGCGGTGGC	0.627		NaN											1	0	9.9191e-30	0.00874	1.08188e-29	30	38				
RUVBL1	8607	broad.mit.edu	37	3	127842458	127842458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:127842458G>A	uc003ekh.2	-	1	214	c.110C>T	c.(109-111)TCA>TTA	p.S37L	RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.S37L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	37					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CACAAGCCCTGAGGCCGCCTG	0.667		NaN											0	0	0	0.003954	0	22	17				
CCDC48	79825	broad.mit.edu	37	3	128758636	128758636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:128758636C>T	uc011bkt.1	+	8	1742	c.1742C>T	c.(1741-1743)TCG>TTG	p.S581L		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	581											0						AGACAGCCCTCGGCACCAGCC	0.667		NaN											0	0	0	0.01441	0	56	48				
MRPS22	56945	broad.mit.edu	37	3	139062910	139062910	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:139062910G>C	uc003etb.2	+	1	50	c.42G>C	c.(40-42)TTG>TTC	p.L14F	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.L14F|MRPS22_uc003ete.2_5'Flank	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	14						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GGAGCCTCTTGAGGAGTTCTC	0.602		NaN											0	0	0	0.003954	0	20	30				
ZBTB38	253461	broad.mit.edu	37	3	141162438	141162438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:141162438G>C	uc003etw.2	+	8	2190	c.1208G>C	c.(1207-1209)GGA>GCA	p.G403A	ZBTB38_uc010hun.2_Missense_Mutation_p.G400A|ZBTB38_uc010huo.2_Missense_Mutation_p.G403A|ZBTB38_uc003ety.2_Missense_Mutation_p.G403A|ZBTB38_uc010hup.2_Missense_Mutation_p.G404A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	403					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCCATTCCTGGAGGAAACCAA	0.428		NaN											0	0	0	0.01441	0	47	51				
C3orf57	165679	broad.mit.edu	37	3	161064103	161064103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:161064103C>G	uc003fee.2	-	3	783	c.9G>C	c.(7-9)TTG>TTC	p.L3F		NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	ADMP	3	Cytoplasmic (Potential).				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding				0			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCACACGCCTCAAATCCATGG	0.403		NaN											0	0	0	0.008361	0	24	33				
MECOM	2122	broad.mit.edu	37	3	168830619	168830619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:168830619C>G	uc003ffi.3	-	8	2238	c.1969G>C	c.(1969-1971)GAG>CAG	p.E657Q	MECOM_uc010hwk.1_Missense_Mutation_p.E680Q|MECOM_uc003ffj.3_Missense_Mutation_p.E722Q|MECOM_uc011bpi.1_Missense_Mutation_p.E658Q|MECOM_uc003ffn.3_Missense_Mutation_p.E657Q|MECOM_uc003ffk.2_Missense_Mutation_p.E657Q|MECOM_uc003ffl.2_Missense_Mutation_p.E817Q|MECOM_uc011bpj.1_Missense_Mutation_p.E845Q|MECOM_uc011bpk.1_Missense_Mutation_p.E647Q|MECOM_uc010hwn.2_Missense_Mutation_p.E845Q	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	657					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AAGTATTTCTCTTTTAAAGCT	0.353		NaN											0	0	0	0.004878	0	28	43				
KLHL6	89857	broad.mit.edu	37	3	183273151	183273151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:183273151G>T	uc003flr.2	-	1	349	c.291C>A	c.(289-291)TTC>TTA	p.F97L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.F95L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	97	BTB.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGCTGACCTGAAATAGTTGC	0.502		NaN											1	0	2.01807e-28	0.01441	2.19627e-28	43	72				
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:184870595G>A	uc003fpd.2	-	1	208	c.17C>T	c.(16-18)TCG>TTG	p.S6L		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	6											0						CGACGCCGGCGAGGCCGCCGC	0.716		NaN											0	0	0	0.006122	0	15	19				
TACC3	10460	broad.mit.edu	37	4	1737475	1737475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1737475G>T	uc003gdo.2	+	8	1770	c.1662G>T	c.(1660-1662)TTG>TTT	p.L554F	TACC3_uc010ibz.2_Missense_Mutation_p.L554F|TACC3_uc003gdp.2_Missense_Mutation_p.L194F|TACC3_uc010ica.2_5'UTR	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	554						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTCGGCCTTGAGGAAGCAGT	0.607		NaN											1	0	1.79414998630790e-318	0.01441	1.97878231815878e-318	518	302				
FGFR3	2261	broad.mit.edu	37	4	1803377	1803377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803377G>A	uc003gdr.3	+	6	902	c.646G>A	c.(646-648)GAA>AAA	p.E216K	FGFR3_uc003gdu.2_Missense_Mutation_p.E216K|FGFR3_uc003gds.3_Missense_Mutation_p.E216K|FGFR3_uc003gdq.3_Missense_Mutation_p.E216K|FGFR3_uc010icb.1_Missense_Mutation_p.E58K|FGFR3_uc003gdt.1_Missense_Mutation_p.E58K	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	216	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGGTCATGGAAAGCGTGGT	0.677		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.014323	0	16	288		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803395	1803395	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803395G>A	uc003gdr.3	+	6	920	c.664G>A	c.(664-666)GAC>AAC	p.D222N	FGFR3_uc003gdu.2_Missense_Mutation_p.D222N|FGFR3_uc003gds.3_Missense_Mutation_p.D222N|FGFR3_uc003gdq.3_Missense_Mutation_p.D222N|FGFR3_uc010icb.1_Missense_Mutation_p.D64N|FGFR3_uc003gdt.1_Missense_Mutation_p.D64N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	222	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGTGCCCTCGGACCGCGGCAA	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00278	0	15	292		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803435	1803435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803435G>A	uc003gdr.3	+	6	960	c.704G>A	c.(703-705)GGC>GAC	p.G235D	FGFR3_uc003gdu.2_Missense_Mutation_p.G235D|FGFR3_uc003gds.3_Missense_Mutation_p.G235D|FGFR3_uc003gdq.3_Missense_Mutation_p.G235D|FGFR3_uc010icb.1_Missense_Mutation_p.G77D|FGFR3_uc003gdt.1_Missense_Mutation_p.G77D	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	235	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AACAAGTTTGGCAGCATCCGG	0.522		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.010729	0	9	270		Valid		
WHSC2	7469	broad.mit.edu	37	4	1985607	1985607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1985607G>A	uc003gem.2	-	9	1543	c.1303C>T	c.(1303-1305)CAG>TAG	p.Q435*	WHSC2_uc003gek.2_Nonsense_Mutation_p.Q161*|WHSC2_uc003gel.2_Nonsense_Mutation_p.Q349*|WHSC2_uc003gen.2_Nonsense_Mutation_p.Q289*	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	424					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GGCTGCTGCTGAGCAGGGGCC	0.672		NaN											0	0	0	0.01441	0	58	39				
POLN	353497	broad.mit.edu	37	4	2129877	2129877	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2129877C>G	uc003ger.2	-	17	1945	c.1945G>C	c.(1945-1947)GAA>CAA	p.E649Q	POLN_uc010icg.1_Missense_Mutation_p.E97Q|POLN_uc010ich.1_Missense_Mutation_p.E181Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	649					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCATCTCTTTCAGATTCCTGG	0.373		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	40	25				
POLN	353497	broad.mit.edu	37	4	2130961	2130961	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130961C>G	uc003ger.2	-	16	1812	c.1812G>C	c.(1810-1812)ACG>ACC	p.T604T	POLN_uc010icg.1_Silent_p.T52T|POLN_uc010ich.1_Silent_p.T136T	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	604					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCGGGGAGATCGTGAGAATCT	0.393		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	63	46				
POLN	353497	broad.mit.edu	37	4	2130975	2130975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130975C>T	uc003ger.2	-	16	1798	c.1798G>A	c.(1798-1800)GAC>AAC	p.D600N	POLN_uc010icg.1_Missense_Mutation_p.D48N|POLN_uc010ich.1_Missense_Mutation_p.D132N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	600					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAATCTTGTCTTCTTTACCT	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	40	38				
HTT	3064	broad.mit.edu	37	4	3241734	3241734	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:3241734A>G	uc011bvq.1	+	68	9528	c.9383A>G	c.(9382-9384)TAT>TGT	p.Y3128C		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	3126					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAGCCCATATCACCGGCTG	0.602		NaN											0	0	0	0.000602	0	4	14				
OTOP1	133060	broad.mit.edu	37	4	4199404	4199404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:4199404G>A	uc003ghp.1	-	5	1187	c.1157C>T	c.(1156-1158)GCC>GTC	p.A386V		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	386					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTGCGGGCCGGATTTTT	0.592		NaN											0	0	0	0.005524	0	31	39				
TBC1D14	57533	broad.mit.edu	37	4	6925317	6925317	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6925317G>A	uc011bwg.1	+	2	280	c.201G>A	c.(199-201)GGG>GGA	p.G67G	TBC1D14_uc003gjs.3_Silent_p.G67G	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	67						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TGGACTCGGGGATTCCTACCC	0.652		NaN											0	0	0	0.004482	0	7	87				
TBC1D14	57533	broad.mit.edu	37	4	6969065	6969065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6969065G>C	uc011bwg.1	+	3	836	c.757G>C	c.(757-759)GAC>CAC	p.D253H	TBC1D14_uc003gjs.3_Missense_Mutation_p.D253H	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	253						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TGCAAGGCTTGACAAACACAA	0.413		NaN											0	0	0	0.008291	0	8	136				
ACOX3	8310	broad.mit.edu	37	4	8396454	8396454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:8396454G>A	uc010idk.2	-	10	1217	c.1072C>T	c.(1072-1074)CCA>TCA	p.P358S	ACOX3_uc003glc.3_Missense_Mutation_p.P358S|ACOX3_uc003gld.3_Missense_Mutation_p.P358S|ACOX3_uc003gle.1_Missense_Mutation_p.P263S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	358					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						GCCAGATATGGAAGCAAGCGC	0.577		NaN											0	0	0	0.00245	0	13	139				
TMEM156	80008	broad.mit.edu	37	4	39000395	39000395	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:39000395G>C	uc003gto.2	-	2	331	c.223C>G	c.(223-225)CTA>GTA	p.L75V	TMEM156_uc010ifj.2_Missense_Mutation_p.L75V	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	75	Extracellular (Potential).					integral to membrane				skin(1)	1						GAGGGATTTAGAAAGATTCTC	0.363		NaN											0	0	0	0.003954	0	18	13				
N4BP2	55728	broad.mit.edu	37	4	40122276	40122276	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:40122276G>C	uc003guy.3	+	9	2883	c.2545G>C	c.(2545-2547)GAG>CAG	p.E849Q	N4BP2_uc010ifq.2_Missense_Mutation_p.E769Q|N4BP2_uc010ifr.2_Missense_Mutation_p.E769Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	849						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGAAAGTGTAGAGGATGGCAG	0.358		NaN											0	0	0	0.00874	0	36	45				
FRYL	285527	broad.mit.edu	37	4	48503750	48503750	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:48503750C>G	uc003gyh.1	-	62	9087	c.8482G>C	c.(8482-8484)GAA>CAA	p.E2828Q	FRYL_uc003gye.1_Missense_Mutation_p.E10Q|FRYL_uc003gyf.1_Missense_Mutation_p.E218Q|FRYL_uc003gyg.1_Missense_Mutation_p.E1518Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2828					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGCTCCAATTCCTAGAAATAA	0.294		NaN											0	0	0	0.01441	0	62	46				
SRP72	6731	broad.mit.edu	37	4	57356772	57356772	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:57356772T>A	uc003hbv.2	+	15	1503	c.1463T>A	c.(1462-1464)ATT>AAT	p.I488N	SRP72_uc010ihe.2_Missense_Mutation_p.I427N|SRP72_uc003hbw.1_Missense_Mutation_p.I249N	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	488					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					GCACAGCTTATTTCTGCTTAC	0.333		NaN											0	0	0	0.005443	0	21	20				
SLC4A4	8671	broad.mit.edu	37	4	72222830	72222830	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:72222830C>A	uc003hfy.2	+	6	773	c.656C>A	c.(655-657)TCC>TAC	p.S219Y	SLC4A4_uc010iic.2_Missense_Mutation_p.S219Y|SLC4A4_uc010iib.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.S175Y|SLC4A4_uc003hga.2_Missense_Mutation_p.S97Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.S175Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	219	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACCAAGAAATCCAACCTTCGG	0.483		NaN											1	0	8.87156e-34	0.01441	9.69773e-34	65	73				
GK2	2712	broad.mit.edu	37	4	80328945	80328945	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:80328945A>T	uc003hlu.2	-	1	428	c.410T>A	c.(409-411)GTC>GAC	p.V137D		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	137					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						CTTAGACTTGACGAAGTTACT	0.428		NaN											0	0	0	0.00499	0	16	125				
FAM13A	10144	broad.mit.edu	37	4	89671584	89671584	+	Missense_Mutation	SNP	G	G	C	rs141057688		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671584G>C	uc003hse.1	-	15	2139	c.1931C>G	c.(1930-1932)TCT>TGT	p.S644C	FAM13A_uc003hsa.1_Missense_Mutation_p.S115C|FAM13A_uc003hsb.1_Missense_Mutation_p.S318C|FAM13A_uc003hsd.1_Missense_Mutation_p.S318C|FAM13A_uc003hsc.1_Missense_Mutation_p.S304C|FAM13A_uc011cdq.1_Missense_Mutation_p.S290C|FAM13A_uc003hsf.1_Missense_Mutation_p.S230C|FAM13A_uc003hsg.1_Missense_Mutation_p.S115C|FAM13A_uc010ikr.1_Missense_Mutation_p.S140C	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CCTCATGAAAGAATGGGAGTT	0.458		NaN											0	0	0	0.005524	0	34	58				
FAM13A	10144	broad.mit.edu	37	4	89671699	89671699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671699G>A	uc003hse.1	-	15	2024	c.1816C>T	c.(1816-1818)CAG>TAG	p.Q606*	FAM13A_uc003hsa.1_Nonsense_Mutation_p.Q77*|FAM13A_uc003hsb.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsd.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsc.1_Nonsense_Mutation_p.Q266*|FAM13A_uc011cdq.1_Nonsense_Mutation_p.Q252*|FAM13A_uc003hsf.1_Nonsense_Mutation_p.Q192*|FAM13A_uc003hsg.1_Nonsense_Mutation_p.Q77*|FAM13A_uc010ikr.1_Nonsense_Mutation_p.Q102*	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	606					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TCCAGCAGCTGACGGATCAGG	0.592		NaN											0	0	0	0.003954	0	25	46				
ARHGEF38	54848	broad.mit.edu	37	4	106510538	106510538	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106510538C>G	uc003hxu.2	+	2	476	c.330C>G	c.(328-330)CTC>CTG	p.L110L		NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN	hypothetical protein LOC54848	110	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3						AGGATTATCTCAATGATCTAG	0.378		NaN											0	0	0	0.005524	0	29	43				
INTS12	57117	broad.mit.edu	37	4	106603932	106603932	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106603932C>T	uc003hxw.2	-	8	1605	c.1347G>A	c.(1345-1347)CAG>CAA	p.Q449Q	INTS12_uc010ilr.2_Silent_p.Q449Q	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	449					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCTTGACCATCTGTAATCGCT	0.408		NaN											0	0	0	0.01441	0	67	110				
KIAA1109	84162	broad.mit.edu	37	4	123141550	123141550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123141550G>C	uc003ieh.2	+	20	2583	c.2538G>C	c.(2536-2538)ATG>ATC	p.M846I	KIAA1109_uc003iei.1_Missense_Mutation_p.M600I|KIAA1109_uc010ins.1_Missense_Mutation_p.M190I|KIAA1109_uc003iej.1_Missense_Mutation_p.M231I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	846					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTTTGAAATGAAAAAAGGAT	0.393		NaN											0	0	0	0.014323	0	19	19				
KIAA1109	84162	broad.mit.edu	37	4	123159417	123159417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123159417G>A	uc003ieh.2	+	26	3790	c.3745G>A	c.(3745-3747)GAA>AAA	p.E1249K	KIAA1109_uc003iei.1_Missense_Mutation_p.E1002K|KIAA1109_uc010ins.1_Missense_Mutation_p.E592K|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1249					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTGGCTGGTGAAAAGGAAAG	0.433		NaN											0	0	0	0.005524	0	34	33				
TTC29	83894	broad.mit.edu	37	4	147754965	147754965	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:147754965G>A	uc003ikw.3	-	9	1197	c.970C>T	c.(970-972)CTG>TTG	p.L324L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L350L|TTC29_uc010ipd.1_Silent_p.L324L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	324	TPR 4.						binding				0	all_hematologic(180;0.151)					TACCTCTGCAGGACCTTGGCT	0.448		NaN											0	0	0	0.005524	0	29	32				
CCDC111	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:185606792C>T	uc003iwk.2	+	11	1682	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	CCDC111_uc003iwj.2_Missense_Mutation_p.R416W|CCDC111_uc003iwl.2_Missense_Mutation_p.R417W|CCDC111_uc003iwm.2_Missense_Mutation_p.R288W|CCDC111_uc003iwn.2_Missense_Mutation_p.R157W	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	417					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGTAAATATCGGTGGTGTGA	0.279		NaN											0	0	0	0.01441	0	44	37				
FAM105B	90268	broad.mit.edu	37	5	14690313	14690313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:14690313C>T	uc003jfk.2	+	6	912	c.760C>T	c.(760-762)CCA>TCA	p.P254S		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	254										ovary(2)	2	Lung NSC(4;0.00696)					AAAGGAAGTACCATTTTTCTC	0.428		NaN											0	0	0	0.007291	0	28	20				
ZNF622	90441	broad.mit.edu	37	5	16453158	16453158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:16453158G>A	uc003jfq.2	-	5	1390	c.1270C>T	c.(1270-1272)CAG>TAG	p.Q424*		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	424						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CTGTACTGCTGAAGTACTCGG	0.502		NaN											0	0	0	0.012319	0	18	39				
ZFR	51663	broad.mit.edu	37	5	32364311	32364311	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:32364311C>G	uc003jhr.1	-	18	2986	c.2906G>C	c.(2905-2907)AGA>ACA	p.R969T	ZFR_uc010ium.1_Missense_Mutation_p.R100T|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	969	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		AAAAACTCTTCTCAGTGCATC	0.353		NaN											0	0	0	0.01441	0	51	45				
ADAMTS12	81792	broad.mit.edu	37	5	33751570	33751570	+	Silent	SNP	C	C	T	rs143045075		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:33751570C>T	uc003jia.1	-	3	736	c.573G>A	c.(571-573)CCG>CCA	p.P191P	ADAMTS12_uc010iuq.1_Silent_p.P191P|ADAMTS12_uc003jib.1_Silent_p.P191P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AAACGATGTGCGGGTGGTACC	0.463		NaN								HNSCC(64;0.19)			0	0	0	0.008361	0	26	70				
C9	735	broad.mit.edu	37	5	39311467	39311467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:39311467G>C	uc003jlv.3	-	7	972	c.883C>G	c.(883-885)CTG>GTG	p.L295V		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	295	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCACATGCAGAAACATTTTT	0.348		NaN											0	0	0	0.010818	0	27	15				
IL31RA	133396	broad.mit.edu	37	5	55178999	55178999	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:55178999C>T	uc003jql.2	+	5	647	c.582C>T	c.(580-582)TTC>TTT	p.F194F	IL31RA_uc003jqk.2_Silent_p.F194F|IL31RA_uc011cqj.1_Silent_p.F52F|IL31RA_uc003jqm.2_Silent_p.F162F|IL31RA_uc003jqn.2_Silent_p.F194F|IL31RA_uc010iwa.1_Silent_p.F162F|IL31RA_uc003jqo.2_Silent_p.F52F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	162	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CACTTCGATTCAGGACAGTCA	0.388		NaN											0	0	0	0.00623	0	31	13				
SGTB	54557	broad.mit.edu	37	5	64967757	64967757	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:64967757G>C	uc003jud.2	-	10	1008	c.788C>G	c.(787-789)TCA>TGA	p.S263*		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	263							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GATGAGGCTTGACAGGTCAGT	0.423		NaN											0	0	0	0.007413	0	16	19				
MSH3	4437	broad.mit.edu	37	5	80063775	80063775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:80063775G>C	uc003kgz.2	+	14	2173	c.1920G>C	c.(1918-1920)TTG>TTC	p.L640F		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	640					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGTTCTTCTTGATTGTCAAAA	0.303		NaN						MMR					0	0	0	0.008291	0	8	27				
RHOBTB3	22836	broad.mit.edu	37	5	95067591	95067591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067591G>A	uc003klm.2	+	2	568	c.31G>A	c.(31-33)GAG>AAG	p.E11K	RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E11K	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	11	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGGGGAACGAGGGGGACAC	0.652		NaN											0	0	0	0.005443	0	18	42				
RHOBTB3	22836	broad.mit.edu	37	5	95067677	95067677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067677G>C	uc003klm.2	+	2	654	c.117G>C	c.(115-117)GAG>GAC	p.E39D	RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E39D	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	39	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCGGGGACGAGAGCAGCTTGT	0.637		NaN											0	0	0	0.012319	0	18	42				
SNCAIP	9627	broad.mit.edu	37	5	121759135	121759135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:121759135G>A	uc003ksw.1	+	4	909	c.703G>A	c.(703-705)GAA>AAA	p.E235K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E235K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E282K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E235K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	235					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCACTGAAGAAACCGAGAT	0.458		NaN											0	0	0	0.00333	0	23	39				
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:122364492G>A	uc003kth.2	-	3	408	c.303C>T	c.(301-303)ATC>ATT	p.I101I	PPIC_uc011cwp.1_3'UTR	NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	101	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393		NaN											0	0	0	0.003163	0	13	28				
FNIP1	96459	broad.mit.edu	37	5	131046318	131046318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:131046318G>C	uc003kvs.1	-	7	801	c.659C>G	c.(658-660)TCT>TGT	p.S220C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Intron|FNIP1_uc010jdm.1_Missense_Mutation_p.S175C|FNIP1_uc003kvu.2_Missense_Mutation_p.S220C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	220					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACCCTGCTCAGAGAATGCCCG	0.527		NaN											0	0	0	0.006122	0	14	12				
PCDHA8	56140	broad.mit.edu	37	5	140222358	140222358	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:140222358G>A	uc003lhs.2	+	1	1452	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A484A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657		NaN											0	0	0	0.01441	0	44	69				
KIAA0141	9812	broad.mit.edu	37	5	141314121	141314121	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:141314121G>A	uc003lls.2	+	10	1241	c.1119G>A	c.(1117-1119)GTG>GTA	p.V373V	KIAA0141_uc003llt.2_Silent_p.V373V|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	373	TPR 5.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGCTGTGAAATATCTTT	0.507		NaN											0	0	0	0.01441	0	65	31				
ARHGEF37	389337	broad.mit.edu	37	5	148999931	148999931	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:148999931C>T	uc003lra.1	+	8	973	c.909C>T	c.(907-909)TTC>TTT	p.F303F		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	303	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						TCCTCTACTTCAGGCCGCACG	0.408		NaN											0	0	0	0.010818	0	21	94				
PDGFRB	5159	broad.mit.edu	37	5	149498309	149498309	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:149498309C>A	uc003lro.2	-	21	3373	c.2904_splice	c.e21+1	p.K968_splice	PDGFRB_uc010jhd.2_Splice_Site_p.K807_splice	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAACATACCTTTTTGTAA	0.557		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								1	0	8.72158e-25	0.01441	9.44998e-25	49	33				
FAT2	2196	broad.mit.edu	37	5	150935954	150935954	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:150935954G>C	uc003lue.3	-	3	3597	c.3584C>G	c.(3583-3585)TCT>TGT	p.S1195C	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S1195C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1195	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGCTGTAGATAGGAGACC	0.458		NaN											0	0	0	0.00632	0	23	32				
ATP6V0E1	8992	broad.mit.edu	37	5	172410891	172410891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:172410891C>G	uc003mcd.1	+	1	129	c.28C>G	c.(28-30)CTC>GTC	p.L10V		NM_003945	NP_003936	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0	10	Helical; (Potential).				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGTGCCTCTCATTGTGAT	0.617		NaN											0	0	0	0.01441	0	91	180				
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:26197163C>T	uc003ngv.2	-	2	713	c.316G>A	c.(316-318)GAG>AAG	p.E106K	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592		NaN											0	0	0	0.01441	0	61	67				
C6orf27	80737	broad.mit.edu	37	6	31735166	31735166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:31735166C>T	uc011dog.1	-	12	2000	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	C6orf27_uc003nxd.2_Missense_Mutation_p.E263K	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	588						extracellular region				ovary(3)	3						GGGGTGTCCTCAGCTGTGACC	0.592		NaN											0	0	0	0.01441	0	36	53				
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32362585G>A	uc003obg.1	-	6	1296	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D	BTNL2_uc010jty.1_Silent_p.D155D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D222D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	432	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						AACAAGTGACGTCCACAGCGG	0.498		NaN											0	0	0	0.00245	0	11	140				
TAP1	6890	broad.mit.edu	37	6	32821186	32821186	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32821186G>A	uc003ocg.2	-	1	563	c.408C>T	c.(406-408)CTC>CTT	p.L136L	TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	136	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						CCGTTGCCCTGAGGACCCCGC	0.697		NaN											0	0	0	0.001168	0	5	10				
PACSIN1	29993	broad.mit.edu	37	6	34499551	34499551	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:34499551C>G	uc003ojo.2	+	9	1418	c.1212C>G	c.(1210-1212)CTC>CTG	p.L404L	PACSIN1_uc003ojp.2_Silent_p.L404L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	404	SH3.				endocytosis		protein kinase activity				0						AGGACGAGCTCAGCTTTAAGG	0.652		NaN											0	0	0	0.01441	0	46	67				
NFKBIE	4794	broad.mit.edu	37	6	44233167	44233167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233167C>G	uc003oxe.1	-	1	359	c.334G>C	c.(334-336)GAC>CAC	p.D112H		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	112					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTTGCGGGTCCGCTTGGCAG	0.667		NaN											0	0	0	0.004672	0	2	4				
NFKBIE	4794	broad.mit.edu	37	6	44233256	44233256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233256C>T	uc003oxe.1	-	1	270	c.245G>A	c.(244-246)CGA>CAA	p.R82Q		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	82					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGACAAGGTTCGGAGCGCTGG	0.642		NaN											0	0	0	0.009096	0	3	5				
NFKBIE	4794	broad.mit.edu	37	6	44233273	44233273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233273C>T	uc003oxe.1	-	1	253	c.228G>A	c.(226-228)TGG>TGA	p.W76*		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	76					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCCAGGTCCACCCAGCGG	0.612		NaN											0	0	0	0.009096	0	3	6				
FAM83B	222584	broad.mit.edu	37	6	54735420	54735420	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:54735420C>A	uc003pck.2	+	2	492	c.376C>A	c.(376-378)CAT>AAT	p.H126N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	126										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCCTTTTTCATCCACCAAG	0.398		NaN											1	0	5.03518e-11	0.007413	5.28159e-11	16	35				
IMPG1	3617	broad.mit.edu	37	6	76734920	76734920	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:76734920T>A	uc003pik.1	-	5	683	c.553A>T	c.(553-555)ATT>TTT	p.I185F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	185					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGTTGAAATGACAATGGTT	0.323		NaN											0	0	0	0.007413	0	15	49				
KIAA1009	22832	broad.mit.edu	37	6	84872884	84872884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:84872884C>T	uc010kbp.2	-	19	2588	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N	KIAA1009_uc003pkj.3_Missense_Mutation_p.D755N|KIAA1009_uc003pki.3_Missense_Mutation_p.D217N	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	831	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCAATCTGATCTTTGGCTTGG	0.333		NaN											0	0	0	0.007291	0	25	79				
RFPL4B	442247	broad.mit.edu	37	6	112671645	112671645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:112671645C>G	uc003pvx.1	+	3	1047	c.735C>G	c.(733-735)TTC>TTG	p.F245L		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	245	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GTCCATTCTTCTGTCTTGAGC	0.438		NaN											0	0	0	0.003755	0	28	19				
TAAR5	9038	broad.mit.edu	37	6	132909813	132909813	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:132909813C>G	uc003qdk.2	-	1	1065	c.1013G>C	c.(1012-1014)TGA>TCA	p.*338S		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	338					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TAGAAGGAATCATTCTTGGTA	0.488		NaN											0	0	0	0.009718	0	32	27				
FBXO30	84085	broad.mit.edu	37	6	146127103	146127103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:146127103C>T	uc003qla.2	-	2	638	c.439G>A	c.(439-441)GAT>AAT	p.D147N	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	147							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GATACTTTATCAGTTGCTTTT	0.403		NaN											0	0	0	0.01441	0	53	36				
RAET1E	135250	broad.mit.edu	37	6	150209697	150209697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150209697G>A	uc003qnl.1	-	4	789	c.729C>T	c.(727-729)CTC>CTT	p.L243L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Silent_p.L207L|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	243	Helical; (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGACACAGATGAGAACAATTC	0.473		NaN											0	0	0	0.00874	0	34	71				
RAET1E	135250	broad.mit.edu	37	6	150210554	150210554	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150210554G>C	uc003qnl.1	-	3	612	c.552C>G	c.(550-552)CTC>CTG	p.L184L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L184L|RAET1E_uc003qnk.1_Silent_p.L148L|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	184	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCCCTTTGAGAGCTTCCTGA	0.493		NaN											0	0	0	0.005443	0	24	42				
SYNJ2	8871	broad.mit.edu	37	6	158449892	158449892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:158449892C>T	uc003qqx.1	+	3	394	c.319C>T	c.(319-321)CTT>TTT	p.L107F	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.L107F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.L56F|SYNJ2_uc010kjo.1_Missense_Mutation_p.L56F	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	107							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTACCCTCTTCAGGAAGA	0.502		NaN											0	0	0	0.007291	0	23	16				
RSPH10B2	728194	broad.mit.edu	37	7	5967926	5967926	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:5967926T>C	uc003sph.1	-	20	2604	c.2333A>G	c.(2332-2334)AAA>AGA	p.K778R	RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Missense_Mutation_p.K778R|RSPH10B2_uc011jwk.1_3'UTR	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	778										ovary(1)|pancreas(1)|skin(1)	3						TTCTTCACGTTTATACGCATG	0.463		NaN											0	0	0	0.01441	0	28	177				
CDCA7L	55536	broad.mit.edu	37	7	21947797	21947797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:21947797G>A	uc010kuk.2	-	4	752	c.632C>T	c.(631-633)TCA>TTA	p.S211L	CDCA7L_uc003sve.3_Missense_Mutation_p.S177L|CDCA7L_uc010kul.2_Missense_Mutation_p.S165L|CDCA7L_uc003svf.3_Missense_Mutation_p.S210L|CDCA7L_uc011jyk.1_Missense_Mutation_p.S211L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	211					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CAAAGCATCTGAACTCTCCTG	0.498		NaN											0	0	0	0.008291	0	10	10				
URGCP	55665	broad.mit.edu	37	7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:43916794C>G	uc003tiw.2	-	6	2325	c.2268G>C	c.(2266-2268)TTG>TTC	p.L756F	URGCP_uc003tiu.2_Missense_Mutation_p.L713F|URGCP_uc003tiv.2_Missense_Mutation_p.L681F|URGCP_uc003tix.2_Missense_Mutation_p.L747F|URGCP_uc003tiy.2_Missense_Mutation_p.L713F|URGCP_uc003tiz.2_Missense_Mutation_p.L713F|URGCP_uc011kbj.1_Missense_Mutation_p.L713F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	756					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CCCCACCTATCAAGCCCCCGG	0.597		NaN											0	0	0	0.012319	0	19	21				
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:44664045C>T	uc003tln.2	+	2	212	c.103C>T	c.(103-105)CAA>TAA	p.Q35*	OGDH_uc003tlm.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbx.1_Nonsense_Mutation_p.Q35*|OGDH_uc011kby.1_Nonsense_Mutation_p.Q35*|OGDH_uc003tlp.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbz.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468		NaN											0	0	0	0.01441	0	101	124				
TNS3	64759	broad.mit.edu	37	7	47454805	47454805	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:47454805C>T	uc003tnv.2	-	11	841	c.474_splice	c.e11-1	p.R158_splice	TNS3_uc003tnw.2_Splice_Site_p.R158_splice|TNS3_uc010kyo.1_Splice_Site_p.R158_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3							focal adhesion	protein binding			ovary(4)	4						CTGAACATACCTGCAAAACGG	0.537		NaN											0	0	0	0.003163	0	13	16				
PION	54103	broad.mit.edu	37	7	77011907	77011907	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77011907C>T	uc003ugf.2	-	7	589	c.510G>A	c.(508-510)CTG>CTA	p.L170L	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	170					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CTTCTGAAATCAGTAACAGAT	0.343		NaN											0	0	0	0.007413	0	13	31				
MAGI2	9863	broad.mit.edu	37	7	77649030	77649030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77649030C>T	uc003ugx.2	-	22	4224	c.3970G>A	c.(3970-3972)GCG>ACG	p.A1324T	MAGI2_uc003ugy.2_Missense_Mutation_p.A1310T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1324						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGGCCGCGCGGCCCTCTGC	0.403		NaN											0	0	0	0.009096	0	4	4				
DBF4	10926	broad.mit.edu	37	7	87529618	87529618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:87529618G>A	uc003ujf.1	+	9	1267	c.763G>A	c.(763-765)GTA>ATA	p.V255I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Missense_Mutation_p.V31I|DBF4_uc011khf.1_Missense_Mutation_p.V22I	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	255					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TCCATTTGATGTAGACAAGCC	0.323		NaN											0	0	0	0.010818	0	26	28				
AKAP9	10142	broad.mit.edu	37	7	91736731	91736731	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:91736731G>C	uc003ulg.2	+	48	11766	c.11541G>C	c.(11539-11541)CAG>CAC	p.Q3847H	AKAP9_uc003ulf.2_Missense_Mutation_p.Q3839H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3470H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1617H|AKAP9_uc003ull.2_Missense_Mutation_p.Q743H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3851					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACCATTTCAGAATAGGTAAG	0.363		NaN	T	BRAF	papillary thyroid								0	0	0	0.008361	0	24	19				
LMTK2	22853	broad.mit.edu	37	7	97822019	97822019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:97822019G>C	uc003upd.1	+	11	2535	c.2242G>C	c.(2242-2244)GAA>CAA	p.E748Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	748					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTCAGACAGAACTTAAGAA	0.343		NaN											0	0	0	0.006122	0	17	12				
MEPCE	56257	broad.mit.edu	37	7	100028615	100028615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100028615G>A	uc003uuw.2	+	1	1087	c.974G>A	c.(973-975)AGG>AAG	p.R325K	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	325							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAACTGCAGGGATGAAGTG	0.627		NaN											0	0	0	0.01441	0	78	110				
ZAN	7455	broad.mit.edu	37	7	100334701	100334701	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100334701C>T	uc003uwj.2	+	5	688	c.523C>T	c.(523-525)CGG>TGG	p.R175W	ZAN_uc003uwk.2_Missense_Mutation_p.R175W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	175	MAM 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGCCCACCCGGGTAAGGCC	0.657		NaN											0	0	0	0.013537	0	9	0				
ZAN	7455	broad.mit.edu	37	7	100382358	100382358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100382358G>A	uc003uwj.2	+	37	6901	c.6736G>A	c.(6736-6738)GAG>AAG	p.E2246K	ZAN_uc003uwk.2_Missense_Mutation_p.E2246K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E296K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2246	Extracellular (Potential).|TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCTGCGCTGAGGGCTGCAT	0.612		NaN											0	0	0	0.003954	0	23	36				
MOGAT3	346606	broad.mit.edu	37	7	100843571	100843571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100843571C>T	uc003uyc.2	-	3	399	c.232G>A	c.(232-234)GAG>AAG	p.E78K	MOGAT3_uc010lhr.2_Missense_Mutation_p.E78K	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	78					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTATCCACTCCGAACGCCTT	0.562		NaN											0	0	0	0.01441	0	81	128				
ZC3HC1	51530	broad.mit.edu	37	7	129680905	129680905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:129680905G>C	uc003vpi.2	-	3	322	c.295C>G	c.(295-297)CCA>GCA	p.P99A	ZC3HC1_uc003vph.2_5'UTR|ZC3HC1_uc010lma.2_5'UTR	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	99					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					CAGACGAGTGGAGACAGCTCA	0.368		NaN											0	0	0	0.01441	0	110	191				
TMEM139	135932	broad.mit.edu	37	7	142983919	142983919	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:142983919T>C	uc010lov.2	+	4	787	c.648T>C	c.(646-648)CCT>CCC	p.P216P	CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Silent_p.P216P|TMEM139_uc003wcl.2_Silent_p.P216P|TMEM139_uc003wcm.2_Silent_p.P216P|TMEM139_uc003wcn.2_RNA	NM_153345	NP_699176	Q8IV31	TM139_HUMAN	transmembrane protein 139 precursor	216	Cytoplasmic (Potential).					integral to membrane					0	Melanoma(164;0.059)					GGGCACCCCCTTAAATGACTC	0.378		NaN											0	0	0	0.004672	0	3	164				
ARHGEF35	445328	broad.mit.edu	37	7	143885433	143885433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:143885433G>A	uc003wdz.1	-	2	162	c.44C>T	c.(43-45)TCT>TTT	p.S15F		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	15											0						CTCTATGGCAGAGATGGGAGG	0.512		NaN											0	0	0	0.00632	0	24	62				
NOS3	4846	broad.mit.edu	37	7	150693932	150693932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:150693932G>C	uc003wif.2	+	5	797	c.501G>C	c.(499-501)GAG>GAC	p.E167D	NOS3_uc011kuy.1_Intron|NOS3_uc011kuz.1_Missense_Mutation_p.E167D|NOS3_uc011kva.1_Missense_Mutation_p.E167D|NOS3_uc011kvb.1_Missense_Mutation_p.E167D	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	167	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTTAGGGAGAGCGAGCTGG	0.692		NaN											0	0	0	0.006214	0	7	11				
MLL3	58508	broad.mit.edu	37	7	151880184	151880184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151880184C>G	uc003wla.2	-	35	5359	c.5140G>C	c.(5140-5142)GAT>CAT	p.D1714H	MLL3_uc003wkz.2_Missense_Mutation_p.D775H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1714					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCATGGAATCATTTGACATC	0.353		NaN	N		medulloblastoma								0	0	0	0.01441	0	162	215		Valid		
MLL3	58508	broad.mit.edu	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151891214C>G	uc003wla.2	-	31	4760	c.4541_splice	c.e31-1	p.E1514_splice	MLL3_uc003wkz.2_Splice_Site_p.E575_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCGCCAAGCTCTAGGAGATAA	0.418		NaN	N		medulloblastoma								0	0	0	0.012213	0	30	32		Valid		
DLGAP2	9228	broad.mit.edu	37	8	1645432	1645432	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:1645432C>T	uc003wpl.2	+	11	2773	c.2676C>T	c.(2674-2676)AAC>AAT	p.N892N	DLGAP2_uc003wpm.2_Silent_p.N878N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	971					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCGGCTCAACGACTGGAAGA	0.612		NaN											0	0	0	0.013537	0	9	114				
MFHAS1	9258	broad.mit.edu	37	8	8749555	8749555	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:8749555G>A	uc003wsj.1	-	1	1577	c.1014C>T	c.(1012-1014)ATC>ATT	p.I338I		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	338	LRR 12.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCAGCTCCACGATGGAGTCCG	0.637		NaN											0	0	0	0.01441	0	63	79				
ENTPD4	9583	broad.mit.edu	37	8	23290508	23290508	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:23290508C>T	uc003xdl.2	-	13	1946	c.1782G>A	c.(1780-1782)CGG>CGA	p.R594R	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.R586R	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	594	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGAGCTGCTCCGGGGAGTGC	0.647		NaN											0	0	0	0.00333	0	22	27				
YTHDF3	253943	broad.mit.edu	37	8	64099964	64099964	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64099964C>T	uc003xuy.2	+	5	1711	c.1395C>T	c.(1393-1395)TTC>TTT	p.F465F	YTHDF3_uc010lys.2_Silent_p.F409F|YTHDF3_uc003xuz.2_Silent_p.F409F|YTHDF3_uc003xva.2_Silent_p.F409F|YTHDF3_uc011len.1_Silent_p.F409F	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	465	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTTACTCTTCAGTGTGAATG	0.448		NaN											0	0	0	0.004656	0	22	27				
YTHDF3	253943	broad.mit.edu	37	8	64100049	64100049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64100049C>G	uc003xuy.2	+	5	1796	c.1480C>G	c.(1480-1482)CAG>GAG	p.Q494E	YTHDF3_uc010lys.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xuz.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xva.2_Missense_Mutation_p.Q438E|YTHDF3_uc011len.1_Missense_Mutation_p.Q438E	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	494	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTCTGGTCTCAGGATAAGTG	0.388		NaN											0	0	0	0.006999	0	31	27				
NCOA2	10499	broad.mit.edu	37	8	71068649	71068649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:71068649G>A	uc003xyn.1	-	11	2113	c.1951C>T	c.(1951-1953)CAG>TAG	p.Q651*		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	651					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTCCATCTGATCAGATTTG	0.567		NaN	T	RUNXBP2	AML								0	0	0	0.01441	0	48	85				
GDAP1	54332	broad.mit.edu	37	8	75272520	75272520	+	Silent	SNP	G	G	T	rs149804782	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:75272520G>T	uc003yah.2	+	3	538	c.459G>T	c.(457-459)CCG>CCT	p.P153P	GDAP1_uc011lfj.1_Silent_p.P38P|GDAP1_uc003yai.2_Silent_p.P85P	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	153	GST C-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCATGATCCCGGCTTATGCAA	0.418		NaN											1	0	3.50607e-19	0.01441	3.74944e-19	42	61				
ZFHX4	79776	broad.mit.edu	37	8	77618708	77618708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77618708G>A	uc003yav.2	+	2	2772	c.2385G>A	c.(2383-2385)ATG>ATA	p.M795I	ZFHX4_uc003yat.1_Missense_Mutation_p.M795I|ZFHX4_uc003yau.1_Missense_Mutation_p.M795I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M795I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	795						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCATAATATGATGCTTTTGC	0.483		NaN								HNSCC(33;0.089)			0	0	0	0.001984	0	6	13				
ZFHX4	79776	broad.mit.edu	37	8	77763619	77763619	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77763619G>C	uc003yav.2	+	10	4714	c.4327G>C	c.(4327-4329)GAG>CAG	p.E1443Q	ZFHX4_uc003yau.1_Missense_Mutation_p.E1488Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGGAAATGGAGAGAGAGTA	0.502		NaN								HNSCC(33;0.089)			0	0	0	0.004656	0	21	30				
UBR5	51366	broad.mit.edu	37	8	103301750	103301750	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:103301750G>T	uc003ykr.1	-	35	4677	c.4644C>A	c.(4642-4644)ATC>ATA	p.I1548I	UBR5_uc003yks.1_Silent_p.I1548I	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1548					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGACTGGCTGATGCGCCTCT	0.473		NaN											1	0	9.7654e-05	0.007413	0.00010009	14	157				
TRPS1	7227	broad.mit.edu	37	8	116616766	116616766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:116616766G>A	uc003ynz.2	-	3	1850	c.1391C>T	c.(1390-1392)TCA>TTA	p.S464L	TRPS1_uc011lhy.1_Missense_Mutation_p.S468L|TRPS1_uc003yny.2_Missense_Mutation_p.S477L|TRPS1_uc010mcy.2_Missense_Mutation_p.S464L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	464					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGGCCGCCTGACTGCACTGC	0.433		NaN							Langer-Giedion_syndrome				0	0	0	0.014323	0	20	34				
ASAP1	50807	broad.mit.edu	37	8	131138243	131138243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:131138243G>A	uc003yta.1	-	16	1502	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	ASAP1_uc003ysz.1_Nonsense_Mutation_p.Q303*|ASAP1_uc011liw.1_Nonsense_Mutation_p.Q485*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	492	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCAAAGACTGAATGCGAGAA	0.383		NaN											0	0	0	0.004878	0	33	48				
TOP1MT	116447	broad.mit.edu	37	8	144411592	144411592	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:144411592A>G	uc003yxz.2	-	3	307	c.288T>C	c.(286-288)TAT>TAC	p.Y96Y	TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	96					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACATCCTCCCATAAAAAGTGG	0.552		NaN											0	0	0	0.004289	0	30	105				
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:15472667G>A	uc003zlv.3	-	10	1270	c.940C>T	c.(940-942)CGA>TGA	p.R314*	PSIP1_uc003zlw.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R305*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R314*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	314	Potential.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363		NaN											0	0	0	0.004878	0	32	5				
C9orf82	79886	broad.mit.edu	37	9	26884835	26884835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:26884835G>A	uc003zqc.2	-	4	650	c.638C>T	c.(637-639)TCT>TTT	p.S213F	C9orf82_uc003zqb.2_Missense_Mutation_p.S68F	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	213											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TCCCATCTTAGAACCATCATC	0.294		NaN											0	0	0	0.01441	0	74	11				
NPR2	4882	broad.mit.edu	37	9	35805555	35805555	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:35805555C>G	uc003zyd.2	+	13	1935	c.1935C>G	c.(1933-1935)CTC>CTG	p.L645L	NPR2_uc010mlb.2_Silent_p.L621L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	645	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGGGAGTCTCAAGTCCTCCA	0.488		NaN											0	0	0	0.01441	0	77	9				
SMC5	23137	broad.mit.edu	37	9	72879297	72879297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:72879297G>C	uc004ahr.2	+	2	380	c.263G>C	c.(262-264)AGC>ACC	p.S88T		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	88					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						GGGAAGTCGAGCATTGTGTGT	0.373		NaN											0	0	0	0.008871	0	14	34				
NFIL3	4783	broad.mit.edu	37	9	94172288	94172288	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:94172288G>A	uc004arh.2	-	2	1124	c.729C>T	c.(727-729)ATC>ATT	p.I243I		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	243					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						AGTTTTGATAGATGGACGCTG	0.488		NaN											0	0	0	0.01441	0	46	8				
ECM2	1842	broad.mit.edu	37	9	95277062	95277062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:95277062G>C	uc004ash.2	-	4	970	c.905C>G	c.(904-906)TCT>TGT	p.S302C	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S280C|ECM2_uc011lty.1_Missense_Mutation_p.S302C|ECM2_uc004asg.2_Missense_Mutation_p.S280C	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	302					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						CGGGGATCGAGAGGGCATTCG	0.403		NaN											0	0	0	0.003271	0	31	6				
NANS	54187	broad.mit.edu	37	9	100845193	100845193	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:100845193C>T	uc004ayb.2	+	7	1578	c.936C>T	c.(934-936)CTC>CTT	p.L312L	NANS_uc004ayc.2_Silent_p.L312L|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	312	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGGACATGCTCACCGTGAAGG	0.493		NaN											0	0	0	0.004289	0	32	5				
SPTAN1	6709	broad.mit.edu	37	9	131342008	131342008	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:131342008G>A	uc004bvl.3	+	10	1427	c.1314G>A	c.(1312-1314)GTG>GTA	p.V438V	SPTAN1_uc011mbg.1_Silent_p.V438V|SPTAN1_uc011mbh.1_Silent_p.V450V|SPTAN1_uc004bvm.3_Silent_p.V438V|SPTAN1_uc004bvn.3_Silent_p.V438V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	438	Spectrin 5.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CAGATGAAGTGAGGGAGAAGG	0.428		NaN											0	0	0	0.00499	0	15	1				
OBP2B	29989	broad.mit.edu	37	9	136081794	136081794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:136081794G>A	uc004ccz.2	-	5	440	c.398C>T	c.(397-399)TCT>TTT	p.S133F	OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65F	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B precursor	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTGGTATCAGAATTCCTACC	0.612		NaN											0	0	0	0.00333	0	23	5				
CLCN4	1183	broad.mit.edu	37	X	10188910	10188910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:10188910C>T	uc004csy.3	+	12	2615	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	CLCN4_uc011mid.1_Missense_Mutation_p.R635W	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	729	CBS 2.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCTGGTGACGCGGAGCGGGTG	0.423		NaN											0	0	0	0.01441	0	47	4				
FAM48B2	170067	broad.mit.edu	37	X	24330063	24330063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:24330063C>G	uc011mjw.1	-	1	1370	c.1370G>C	c.(1369-1371)GGA>GCA	p.G457A		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	457											0						ATGTTTCTCTCCCTTCCCGGA	0.547		NaN											0	0	0	0.008871	0	16	2				
IL1RAPL1	11141	broad.mit.edu	37	X	29959767	29959767	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:29959767G>C	uc004dby.2	+	9	1566	c.1058_splice	c.e9-1	p.E353_splice		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTCTTTCTAGAGCTAATGTA	0.363		NaN											0	0	0	0.01441	0	99	5				
KDM6A	7403	broad.mit.edu	37	X	44894182	44894182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:44894182C>T	uc004dge.3	+	7	946	c.571C>T	c.(571-573)CAG>TAG	p.Q191*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q191*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	191	TPR 3.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCAGCATTTTCAGTTAGCTTT	0.343		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.01441	0	49	2		Valid		
WDR13	64743	broad.mit.edu	37	X	48457331	48457331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:48457331C>T	uc004dkh.1	+	3	415	c.268C>T	c.(268-270)CTT>TTT	p.L90F	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.L90F|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	90						cytoplasm|nucleus				ovary(2)	2						CCGCACTACTCTTGACCGCAT	0.522		NaN											0	0	0	0.003755	0	31	4				
ITIH5L	347365	broad.mit.edu	37	X	54783589	54783589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:54783589G>A	uc004dtj.2	-	8	2948	c.2918C>T	c.(2917-2919)TCC>TTC	p.S973F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	973	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TGTAGGCCTGGAGCTGTTGAG	0.572		NaN											0	0	0	0.005443	0	24	0				
TEX11	56159	broad.mit.edu	37	X	70099855	70099855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70099855C>A	uc004dyl.2	-	4	349	c.187G>T	c.(187-189)GAA>TAA	p.E63*	TEX11_uc004dym.2_Nonsense_Mutation_p.E48*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	63							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					TCTGTTATTTCAGCCATAGAC	0.313		NaN											1	0	9.31168e-06	0.001855	9.60389e-06	10	20				
MED12	9968	broad.mit.edu	37	X	70360617	70360617	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70360617A>G	uc004dyy.2	+	42	6376	c.6177A>G	c.(6175-6177)CAA>CAG	p.Q2059Q	MED12_uc004dyz.2_Silent_p.Q2058Q|MED12_uc004dza.2_Silent_p.Q1909Q|MED12_uc010nla.2_Silent_p.Q688Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2059	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					aacagcagcaacagcaacagc	0.259		NaN											0	0	0	0.003163	0	9	22				
PHKA1	5255	broad.mit.edu	37	X	71843049	71843049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:71843049C>T	uc004eax.3	-	18	2171	c.1870G>A	c.(1870-1872)GAG>AAG	p.E624K	PHKA1_uc004eay.3_Missense_Mutation_p.E624K|PHKA1_uc011mqi.1_Missense_Mutation_p.E624K	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	624					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					AGCTTACCCTCAGGTCCAGGG	0.408		NaN											0	0	0	0.00874	0	38	1				
WDR44	54521	broad.mit.edu	37	X	117566847	117566847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:117566847C>T	uc004eqn.2	+	13	2266	c.1841C>T	c.(1840-1842)TCA>TTA	p.S614L	WDR44_uc004eqo.2_Missense_Mutation_p.S614L|WDR44_uc011mtr.1_Missense_Mutation_p.S589L|WDR44_uc010nqi.2_Missense_Mutation_p.S324L	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	614	WD 2.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CTTGATCTTTCATGGTCTAAA	0.284		NaN											0	0	0	0.01441	0	47	4				
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:123197011C>T	uc004etz.3	+	18	2116	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GCAGTTGCCTCAGTACTTTGA	0.279		NaN											0	0	0	0.004656	0	20	2		Valid		
ODZ1	10178	broad.mit.edu	37	X	124097480	124097480	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:124097480G>A	uc004euj.2	-	1	187	c.123C>T	c.(121-123)AAC>AAT	p.N41N	ODZ1_uc011muj.1_Silent_p.N41N|ODZ1_uc010nqy.2_Silent_p.N41N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	41	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCTCCCTGGAGTTGTATGACT	0.428		NaN											0	0	0	0.01441	0	55	77				
HTATSF1	27336	broad.mit.edu	37	X	135593753	135593753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:135593753G>C	uc004ezw.2	+	10	2271	c.1849G>C	c.(1849-1851)GAG>CAG	p.E617Q	HTATSF1_uc004ezx.2_Missense_Mutation_p.E617Q	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	617	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GGAAGGCTCTGAGAGAGAGTT	0.363		NaN											0	0	0	0.005524	0	33	5				
GABRE	2564	broad.mit.edu	37	X	151123200	151123200	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151123200G>C	uc004ffi.2	-	9	1548	c.1494C>G	c.(1492-1494)CTC>CTG	p.L498L	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	498	Helical; (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCCAGTAGAGCACATTGA	0.547		NaN											0	0	0	0.010729	0	11	3				
MAGEA10	4109	broad.mit.edu	37	X	151303448	151303448	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151303448C>T	uc004ffk.2	-	5	1053	c.645G>A	c.(643-645)CTG>CTA	p.L215L	MAGEA10_uc004ffl.2_Silent_p.L215L	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	215	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATCACTCAGCATCCCAT	0.522		NaN											0	0	0	0.01441	0	49	8				
BGN	633	broad.mit.edu	37	X	152770152	152770152	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770152G>A	uc004fhr.1	+	2	235	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	21						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGAGCAGAGAGGCTTCT	0.642		NaN											0	0	0	0.005524	0	34	1				
BGN	633	broad.mit.edu	37	X	152770154	152770154	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770154G>A	uc004fhr.1	+	2	237	c.65G>A	c.(64-66)AGA>AAA	p.R22K	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	22						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGCAGAGAGGCTTCTGG	0.642		NaN											0	0	0	0.010771	0	39	1				
PLEKHG5	57449	broad.mit.edu	37	1	6534204	6534204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:6534204C>G	uc001ano.1	-	8	729	c.628G>C	c.(628-630)GAG>CAG	p.E210Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.E191Q|PLEKHG5_uc001anq.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anp.1_Missense_Mutation_p.E231Q|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E223Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.E154Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.E154Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.E154Q	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	210					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTTGCCCTCATCTCCAGGC	0.677		NaN											0	0	0	0.013537	0	9	35				
TARDBP	23435	broad.mit.edu	37	1	11082686	11082686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:11082686C>G	uc001art.2	+	6	1354	c.1220C>G	c.(1219-1221)TCT>TGT	p.S407C	TARDBP_uc010oap.1_Missense_Mutation_p.S291C	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	407	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGCATGGATTCTAAGTCTTCT	0.443		NaN											0	0	0	0.007835	0	26	146				
DNAJC16	23341	broad.mit.edu	37	1	15871058	15871058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:15871058C>A	uc001aws.2	+	5	859	c.739C>A	c.(739-741)CCA>ACA	p.P247T	DNAJC16_uc001awr.1_Missense_Mutation_p.P247T|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	247	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTCTTCTTCCAGGGAACTT	0.423		NaN											1	0	3.7963e-18	0.00333	4.28924e-18	19	89				
DNAJC16	23341	broad.mit.edu	37	1	15890809	15890809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:15890809C>G	uc001aws.2	+	11	1673	c.1553C>G	c.(1552-1554)TCT>TGT	p.S518C	DNAJC16_uc001awr.1_Missense_Mutation_p.S518C|DNAJC16_uc001awt.2_Missense_Mutation_p.S206C|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	518	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TACTCTGCTTCTGACTACATC	0.433		NaN											0	0	0	0.004289	0	28	130				
KDM1A	23028	broad.mit.edu	37	1	23395118	23395118	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:23395118C>T	uc001bgi.2	+	9	1343	c.1194C>T	c.(1192-1194)TTC>TTT	p.F398F	KDM1A_uc001bgj.2_Silent_p.F422F	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	398	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						AACTAGACTTCAATGTCCTCA	0.398		NaN											0	0	0	0.007413	0	18	28				
GJB3	2707	broad.mit.edu	37	1	35250591	35250591	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:35250591C>T	uc001bxx.2	+	2	843	c.228C>T	c.(226-228)CTC>CTT	p.L76L	GJB3_uc001bxy.2_Silent_p.L76L|GJB3_uc001bxz.3_Silent_p.L76L|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	76	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACATCCGCCTCTGGGCCCTGC	0.622		NaN											0	0	0	0.010729	0	12	22				
ZMYM4	9202	broad.mit.edu	37	1	35885249	35885249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:35885249G>C	uc001byt.2	+	30	4698	c.4618G>C	c.(4618-4620)GAA>CAA	p.E1540Q	ZMYM4_uc009vuu.2_Missense_Mutation_p.E1508Q|ZMYM4_uc001byu.2_Missense_Mutation_p.E1216Q|ZMYM4_uc009vuv.2_Missense_Mutation_p.E1279Q	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1540					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCAAATCTGAAGACTCTGA	0.423		NaN											0	0	0	0.001855	0	12	32				
MTF1	4520	broad.mit.edu	37	1	38304297	38304297	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:38304297C>T	uc001cce.1	-	4	920	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	260	C2H2-type 5.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAGACCTACCGAAATGGCTT	0.403		NaN											0	0	0	0.00245	0	11	62				
CAP1	10487	broad.mit.edu	37	1	40529930	40529930	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:40529930C>G	uc001cfa.3	+	5	555	c.326C>G	c.(325-327)TCA>TGA	p.S109*	CAP1_uc001cey.3_Nonsense_Mutation_p.S109*|CAP1_uc001cez.3_Nonsense_Mutation_p.S109*|CAP1_uc009vvz.2_Nonsense_Mutation_p.S109*|CAP1_uc010oje.1_Intron	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	109					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACCCATCTCAGAGCAGATC	0.448		NaN											0	0	0	0.003954	0	21	66				
TSPAN1	10103	broad.mit.edu	37	1	46651197	46651197	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:46651197C>G	uc001cpd.2	+	9	1182	c.718C>G	c.(718-720)CTA>GTA	p.L240V	TSPAN1_uc009vyd.1_Missense_Mutation_p.L240V	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	240	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTACTGCAATCTACAATAAGT	0.542		NaN											0	0	0	0.01441	0	46	236				
CC2D1B	200014	broad.mit.edu	37	1	52824767	52824767	+	Missense_Mutation	SNP	C	C	G	rs144724390	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:52824767C>G	uc001ctq.1	-	11	1327	c.1189G>C	c.(1189-1191)GAG>CAG	p.E397Q	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.E88Q	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	397										ovary(2)	2						ATGCCCGCCTCGCGGTACTTG	0.632		NaN											0	0	0	0.006214	0	8	37				
CC2D1B	200014	broad.mit.edu	37	1	52825538	52825538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:52825538C>G	uc001ctq.1	-	8	919	c.781G>C	c.(781-783)GAG>CAG	p.E261Q	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_5'UTR	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	261	Pro-rich.									ovary(2)	2						AGGCTGGTCTCAGGTTGGGAG	0.572		NaN											0	0	0	0.009096	0	3	19				
AK3L1	205	broad.mit.edu	37	1	65684501	65684501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:65684501C>G	uc001dby.2	+	4	577	c.330C>G	c.(328-330)ATC>ATG	p.I110M	AK3L1_uc009wan.2_Missense_Mutation_p.I58M|AK3L1_uc001dbz.2_Missense_Mutation_p.I110M|AK3L1_uc001dca.2_Missense_Mutation_p.I110M	NM_203464	NP_982289	P27144	KAD4_HUMAN	adenylate kinase 3-like 1 isoform 7	110						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding				0						ATCTAGTGATCAGTTTGAATA	0.433		NaN											0	0	0	0.004482	0	5	47				
C1orf173	127254	broad.mit.edu	37	1	75065450	75065450	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:75065450G>A	uc001dgg.2	-	11	1874	c.1655C>T	c.(1654-1656)CCA>CTA	p.P552L	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P346L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	552	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ACGGGCATCTGGTGCCTTCTG	0.408		NaN											0	0	0	0.009718	0	43	102				
ZZZ3	26009	broad.mit.edu	37	1	78034131	78034131	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:78034131G>C	uc001dhq.2	-	13	2828	c.2352C>G	c.(2350-2352)ATC>ATG	p.I784M	ZZZ3_uc001dhr.2_Missense_Mutation_p.I290M|ZZZ3_uc001dhp.2_Missense_Mutation_p.I783M	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TCCTATACATGATAGGAATAC	0.269		NaN											0	0	0	0.010729	0	12	11				
USP33	23032	broad.mit.edu	37	1	78187599	78187599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:78187599G>A	uc001dht.2	-	15	2014	c.1667C>T	c.(1666-1668)TCA>TTA	p.S556L	USP33_uc001dhs.2_Missense_Mutation_p.S277L|USP33_uc001dhu.2_Missense_Mutation_p.S525L|USP33_uc001dhv.2_Missense_Mutation_p.S361L|USP33_uc001dhw.2_Intron	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	556					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						AGGGACACATGAGACAACAAA	0.373		NaN											0	0	0	0.003163	0	14	29				
LPAR3	23566	broad.mit.edu	37	1	85279670	85279670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:85279670C>G	uc001dkl.2	-	2	960	c.921G>C	c.(919-921)ATG>ATC	p.M307I	LPAR3_uc009wcj.1_Missense_Mutation_p.M307I	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	307	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AGCAGCAGATCATCTTCTTCA	0.547		NaN											0	0	0	0.007413	0	16	64				
SH3GLB1	51100	broad.mit.edu	37	1	87208005	87208005	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:87208005C>A	uc001dlw.2	+	8	1202	c.876C>A	c.(874-876)ATC>ATA	p.I292I	SH3GLB1_uc001dlx.2_Silent_p.I313I|SH3GLB1_uc001dly.2_Silent_p.I321I|SH3GLB1_uc001dlz.2_Silent_p.I192I	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	292					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		GCCTAGTAATCACCTCTCCTT	0.438		NaN											1	0	1.30015e-28	0.004878	1.51295e-28	36	47				
LRRC8D	55144	broad.mit.edu	37	1	90400866	90400866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:90400866G>C	uc001dnm.2	+	3	2664	c.2239G>C	c.(2239-2241)GAA>CAA	p.E747Q	LRRC8D_uc001dnn.2_Missense_Mutation_p.E747Q	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	747	LRR 10.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GATTCCAATAGAAATAGGATT	0.373		NaN											0	0	0	0.007413	0	19	73				
BARHL2	343472	broad.mit.edu	37	1	91182500	91182500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:91182500G>A	uc001dns.2	-	1	295	c.253C>T	c.(253-255)CAT>TAT	p.H85Y		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	85						nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AGGTGGTGATGATGCTGGGTC	0.473		NaN											0	0	0	0.008291	0	10	16				
GCLM	2730	broad.mit.edu	37	1	94360257	94360257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:94360257G>A	uc001dqg.1	-	6	861	c.568C>T	c.(568-570)CTT>TTT	p.L190F		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	190					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CAGGAGGCAAGATTAACTTGG	0.323		NaN											0	0	0	0.01441	0	51	87				
CSDE1	7812	broad.mit.edu	37	1	115262243	115262243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:115262243G>A	uc001efk.2	-	18	2639	c.2173C>T	c.(2173-2175)CAG>TAG	p.Q725*	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Nonsense_Mutation_p.Q771*|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Nonsense_Mutation_p.Q694*|CSDE1_uc001efm.2_Nonsense_Mutation_p.Q740*|CSDE1_uc009wgv.2_Nonsense_Mutation_p.Q725*|CSDE1_uc001efn.2_Nonsense_Mutation_p.Q694*	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	725	CSD 9.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGTGCGCTGATTAAGAATC	0.448		NaN											0	0	0	0.005443	0	24	101				
NBPF10	100132406	broad.mit.edu	37	1	145301812	145301812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:145301812G>A	uc001end.3	+	7	1116	c.1081G>A	c.(1081-1083)GAG>AAG	p.E361K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E361K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E90K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	361											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAAGCAAGCTGAGGAGCTCAG	0.522		NaN											0	0	0	0.003954	0	9	179				
FMO5	2330	broad.mit.edu	37	1	146672879	146672879	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:146672879G>C	uc001epi.2	-	7	1427	c.1038C>G	c.(1036-1038)GTC>GTG	p.V346V	FMO5_uc001eph.3_Silent_p.V346V|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	346						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					TCTTGTTTTTGACCACTTTGA	0.443		NaN											0	0	0	0.001984	0	6	68				
BCL9	607	broad.mit.edu	37	1	147092562	147092562	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:147092562G>A	uc001epq.2	+	8	3341	c.2601G>A	c.(2599-2601)ACG>ACA	p.T867T	BCL9_uc010ozr.1_Silent_p.T793T	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	867	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGTCTCCCACGATGCACCAAG	0.637		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.003954	0	23	97				
HORMAD1	84072	broad.mit.edu	37	1	150687152	150687152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:150687152G>A	uc001evk.1	-	4	287	c.181C>T	c.(181-183)CTT>TTT	p.L61F	HORMAD1_uc001evl.1_Missense_Mutation_p.L61F|HORMAD1_uc001evm.1_Intron	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	61	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACACAAAGATCTAAACAC	0.174		NaN											0	0	0	0.007413	0	14	59				
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:150923439G>C	uc001evu.2	+	13	2276	c.2086G>C	c.(2086-2088)GAG>CAG	p.E696Q	SETDB1_uc009wmf.2_Missense_Mutation_p.E697Q|SETDB1_uc001evv.2_Missense_Mutation_p.E696Q|SETDB1_uc009wmg.1_Missense_Mutation_p.E696Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468		NaN											0	0	0	0.00333	0	16	75				
PRUNE	58497	broad.mit.edu	37	1	151001306	151001306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:151001306C>G	uc001ewh.1	+	7	955	c.819C>G	c.(817-819)TTC>TTG	p.F273L	PRUNE_uc001ewi.1_Missense_Mutation_p.F91L|PRUNE_uc010pco.1_Missense_Mutation_p.F41L|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	273						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATGCTTTCTGCCAGGCTC	0.478		NaN											0	0	0	0.010504	0	16	109				
TCHH	7062	broad.mit.edu	37	1	152081239	152081239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:152081239C>G	uc001ezp.2	-	2	4454	c.4454G>C	c.(4453-4455)AGA>ACA	p.R1485T	TCHH_uc009wne.1_Missense_Mutation_p.R1485T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1485	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGAATTTTCTGTCACGCTC	0.552		NaN											0	0	0	0.01441	0	44	147				
INTS3	65123	broad.mit.edu	37	1	153713793	153713793	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:153713793C>A	uc009wom.2	+	4	488	c.267C>A	c.(265-267)ATC>ATA	p.I89I	INTS3_uc001fct.2_Silent_p.I89I|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Translation_Start_Site	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	89					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGAAGAAATCTGCCTGGGCC	0.493		NaN											1	0	5.35047e-06	0.00333	5.57022e-06	18	169				
KCNN3	3782	broad.mit.edu	37	1	154841844	154841844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:154841844G>C	uc001ffp.2	-	1	911	c.597C>G	c.(595-597)ATC>ATG	p.I199M	KCNN3_uc009wox.1_Missense_Mutation_p.I199M	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	204						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TCTCGGCCTCGATGAGGTTCC	0.637		NaN											0	0	0	0.004482	0	7	61				
PAQR6	79957	broad.mit.edu	37	1	156215947	156215947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156215947G>A	uc001fnu.1	-	3	216	c.146C>T	c.(145-147)ACG>ATG	p.T49M	PAQR6_uc010phf.1_Translation_Start_Site|PAQR6_uc001fny.1_Translation_Start_Site|PAQR6_uc001fnv.1_Missense_Mutation_p.T25M|PAQR6_uc010phg.1_Missense_Mutation_p.T46M|PAQR6_uc001fnx.1_Translation_Start_Site|PAQR6_uc001fnw.1_Translation_Start_Site|PAQR6_uc001fnz.1_Translation_Start_Site|PAQR6_uc010phh.1_Missense_Mutation_p.T49M|PAQR6_uc001foa.1_Translation_Start_Site|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	49	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					GATGTTGACCGTCTCGTTGGT	0.647		NaN											0	0	0	0.004656	0	23	43				
SMG5	23381	broad.mit.edu	37	1	156237348	156237348	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156237348C>G	uc001foc.3	-	10	1179	c.1030G>C	c.(1030-1032)GAG>CAG	p.E344Q	SMG5_uc009wrv.2_5'Flank	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	344					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TATCCACTCTCATACTCCTCC	0.527		NaN											0	0	0	0.010729	0	9	91				
C1orf61	10485	broad.mit.edu	37	1	156386657	156386657	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156386657C>G	uc001fou.1	-	3	93	c.-24_splice	c.e3-1		C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	transcriptional activator of the c-fos promoter							nucleus				skin(1)	1	Hepatocellular(266;0.158)					TTTTTACATTCTGAAACAAAT	0.388		NaN											0	0	0	0.00245	0	13	35				
BCAN	63827	broad.mit.edu	37	1	156617355	156617355	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156617355G>A	uc001fpp.2	+	4	858	c.522G>A	c.(520-522)GGG>GGA	p.G174G	BCAN_uc001fpo.2_Silent_p.G174G	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	174	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTTTCTGGGGCCCAGGAGG	0.642		NaN											0	0	0	0.004007	0	13	35				
NES	10763	broad.mit.edu	37	1	156640696	156640696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:156640696G>A	uc001fpq.2	-	4	3417	c.3284C>T	c.(3283-3285)GCG>GTG	p.A1095V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1095	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCAGCTCCCGCAGCAGACTC	0.662		NaN											0	0	0	0.00499	0	17	44				
OR6K6	128371	broad.mit.edu	37	1	158724899	158724899	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:158724899G>A	uc001fsw.1	+	1	294	c.294G>A	c.(292-294)GAG>GAA	p.E98E		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	98	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					CCTTCCTGGAGATCTGCTATA	0.483		NaN											0	0	0	0.01441	0	58	177				
ATP1A2	477	broad.mit.edu	37	1	160098495	160098495	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:160098495G>A	uc001fvc.2	+	9	1203	c.1071G>A	c.(1069-1071)AAG>AAA	p.K357K	ATP1A2_uc001fvb.2_Silent_p.K357K|ATP1A2_uc010piz.1_Silent_p.K202K|ATP1A2_uc001fvd.2_Silent_p.K93K|ATP1A2_uc009wtg.1_Silent_p.K45K	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	357	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGGTGAAGAACCTGGAGG	0.592		NaN											0	0	0	0.003755	0	29	97				
RXRG	6258	broad.mit.edu	37	1	165370572	165370572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:165370572G>C	uc001gda.2	-	10	1620	c.1320C>G	c.(1318-1320)TTC>TTG	p.F440L		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	440	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CGATGAGCTTGAAGAAGAAGA	0.597		NaN											0	0	0	0.01441	0	49	98				
DPT	1805	broad.mit.edu	37	1	168665804	168665804	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:168665804C>T	uc001gfp.2	-	4	605	c.589G>A	c.(589-591)GAA>AAA	p.E197K		NM_001937	NP_001928	Q07507	DERM_HUMAN	dermatopontin precursor	197					cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)					TTTGCAAATTCACAGTCGTAT	0.473		NaN											0	0	0	0.008291	0	9	61				
KIFAP3	22920	broad.mit.edu	37	1	169930298	169930298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:169930298C>G	uc001ggv.2	-	18	2333	c.2062G>C	c.(2062-2064)GAG>CAG	p.E688Q	KIFAP3_uc010plx.1_Missense_Mutation_p.E390Q	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	688					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACGACTCTCTACCATCTCC	0.408		NaN											0	0	0	0.01441	0	63	83				
PRRX1	5396	broad.mit.edu	37	1	170633362	170633362	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:170633362G>A	uc001ghf.2	+	1	50	c.3G>A	c.(1-3)ATG>ATA	p.M1I	PRRX1_uc001ghe.2_Missense_Mutation_p.M1I	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGAGACCATGACCTCCAGCT	0.657		NaN											0	0	0	0.009096	0	4	13				
LHX4	89884	broad.mit.edu	37	1	180241097	180241097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:180241097C>G	uc001goe.1	+	5	957	c.734C>G	c.(733-735)TCT>TGT	p.S245C	uc001gof.1_RNA	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AAGGAGAGCTCTGCAGAGGAC	0.617		NaN											0	0	0	0.001984	0	5	44				
FAM5C	339479	broad.mit.edu	37	1	190195374	190195374	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:190195374A>T	uc001gse.1	-	6	1031	c.799T>A	c.(799-801)TCA>ACA	p.S267T	FAM5C_uc010pot.1_Missense_Mutation_p.S165T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	267						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCTCCCTCTGAATTGCAAGCA	0.438		NaN											0	0	0	0.00333	0	19	60				
ADIPOR1	51094	broad.mit.edu	37	1	202920093	202920093	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:202920093C>G	uc001gyq.3	-	2	373	c.106G>C	c.(106-108)GAG>CAG	p.E36Q	ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E36Q	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	36	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TTGCCCTTCTCTTCTAGCAGG	0.527		NaN											0	0	0	0.006122	0	16	148				
CHIT1	1118	broad.mit.edu	37	1	203192738	203192738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:203192738G>C	uc001gzn.2	-	5	461	c.365C>G	c.(364-366)TCG>TGG	p.S122W	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.S113W	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	122					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						CCTGATGGCCGAGTTGACAAA	0.577		NaN											0	0	0	0.005443	0	22	180				
ATP2B4	493	broad.mit.edu	37	1	203680026	203680026	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:203680026G>A	uc001gzw.2	+	12	2705	c.1821G>A	c.(1819-1821)CGG>CGA	p.R607R	ATP2B4_uc001gzv.2_Silent_p.R607R|ATP2B4_uc009xaq.2_Silent_p.R607R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	607	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTGGACCGGAAAGGGGAAG	0.502		NaN											0	0	0	0.003163	0	15	24				
REN	5972	broad.mit.edu	37	1	204135397	204135397	+	Missense_Mutation	SNP	G	G	A	rs115181548	by1000genomes	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:204135397G>A	uc001haq.2	-	1	69	c.25C>T	c.(25-27)CGC>TGC	p.R9C		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	9					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTCCCCAGCGAGGCATCCTT	0.557		NaN											0	0	0	0.003163	0	13	78				
SLC26A9	115019	broad.mit.edu	37	1	205896660	205896660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:205896660G>C	uc001hdq.2	-	10	1289	c.1175C>G	c.(1174-1176)TCT>TGT	p.S392C	SLC26A9_uc001hdo.2_Missense_Mutation_p.S60C|SLC26A9_uc001hdp.2_Missense_Mutation_p.S392C	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	392	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGAGTGACAGAAAGCGCACA	0.517		NaN											0	0	0	0.010729	0	11	45				
C1orf107	27042	broad.mit.edu	37	1	210014333	210014333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:210014333C>G	uc001hhr.1	+	8	1494	c.1418C>G	c.(1417-1419)TCT>TGT	p.S473C	C1orf107_uc009xcu.1_Missense_Mutation_p.S188C	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	473					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		GACTTTCTGTCTTCTATCGAG	0.483		NaN											0	0	0	0.004656	0	24	96				
INTS7	25896	broad.mit.edu	37	1	212190334	212190334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:212190334C>T	uc001hiw.1	-	4	508	c.403G>A	c.(403-405)GAG>AAG	p.E135K	INTS7_uc009xdb.1_Missense_Mutation_p.E135K|INTS7_uc001hix.1_Missense_Mutation_p.E11K|INTS7_uc001hiy.1_Missense_Mutation_p.E135K|INTS7_uc010pta.1_Missense_Mutation_p.E86K	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	135					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCTTCCTCTCAGGAATTATT	0.398		NaN											0	0	0	0.013114	0	32	123				
CENPF	1063	broad.mit.edu	37	1	214815002	214815002	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:214815002G>A	uc001hkm.2	+	12	3495	c.3321G>A	c.(3319-3321)CAG>CAA	p.Q1107Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1107	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373		NaN											0	0	0	0.000602	0	3	115				
TP53BP2	7159	broad.mit.edu	37	1	223983678	223983678	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:223983678C>T	uc010pvb.1	-	13	2855	c.2563G>A	c.(2563-2565)GAA>AAA	p.E855K	TP53BP2_uc001hod.2_Missense_Mutation_p.E726K|TP53BP2_uc010puz.1_Missense_Mutation_p.E88K|TP53BP2_uc010pva.1_Missense_Mutation_p.E494K	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	849	Pro-rich.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TTTGGTTCTTCTGGGTTATTC	0.547		NaN											0	0	0	0.007413	0	15	89				
RYR2	6262	broad.mit.edu	37	1	237806646	237806646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:237806646G>C	uc001hyl.1	+	48	7361	c.7241G>C	c.(7240-7242)GGA>GCA	p.G2414A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2414	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGGGAAGGGAGAAGCCATC	0.413		NaN											0	0	0	0.01441	0	37	139				
OR2L13	284521	broad.mit.edu	37	1	248263467	248263467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:248263467C>T	uc001ids.2	+	3	1127	c.790C>T	c.(790-792)CTC>TTC	p.L264F		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCCAGGAATCTCCGCTCACC	0.468		NaN											0	0	0	0.011902	0	37	88				
ZNF672	79894	broad.mit.edu	37	1	249142668	249142668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:249142668G>C	uc001iex.2	+	4	1890	c.1195G>C	c.(1195-1197)GAG>CAG	p.E399Q		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	399	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGAGTGCGCAGAGTGCGGCAA	0.682		NaN											0	0	0	0.001168	0	6	10				
ANKRD16	54522	broad.mit.edu	37	10	5925115	5925115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:5925115C>T	uc010qat.1	-	5	1246	c.703G>A	c.(703-705)GAA>AAA	p.E235K	ANKRD16_uc009xie.2_Missense_Mutation_p.E235K|ANKRD16_uc009xif.2_Missense_Mutation_p.E235K|ANKRD16_uc001iiq.2_Missense_Mutation_p.E235K	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	235											0						AGGCTGTCTTCTGCTGAAAGG	0.542		NaN											0	0	0	0.006214	0	6	31				
FBXO18	84893	broad.mit.edu	37	10	5945065	5945065	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:5945065C>A	uc001iis.2	+	2	179	c.84C>A	c.(82-84)TTC>TTA	p.F28L	FBXO18_uc001iir.2_5'UTR|FBXO18_uc009xig.2_5'UTR|FBXO18_uc001iit.2_Missense_Mutation_p.F79L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	28					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CCCAGCCCTTCGGTCAAAGAT	0.488		NaN											1	0	1.99505e-19	0.012213	2.28062e-19	26	40				
TRDMT1	1787	broad.mit.edu	37	10	17195630	17195630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:17195630C>G	uc001iop.2	-	10	999	c.951G>C	c.(949-951)GAG>GAC	p.E317D	TRDMT1_uc001ioq.2_Missense_Mutation_p.E293D|TRDMT1_uc001ior.2_Missense_Mutation_p.E271D|TRDMT1_uc001ios.2_Missense_Mutation_p.E246D|TRDMT1_uc009xjt.2_Missense_Mutation_p.E236D|TRDMT1_uc010qcc.1_Missense_Mutation_p.E246D|TRDMT1_uc010qcd.1_Missense_Mutation_p.E194D	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	317					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						TGTAGATATTCTCAACCTGTA	0.333		NaN											0	0	0	0.001168	0	4	18				
MLLT10	8028	broad.mit.edu	37	10	21962735	21962735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:21962735C>G	uc001iqs.2	+	11	1856	c.1508C>G	c.(1507-1509)TCT>TGT	p.S503C	MLLT10_uc001iqt.2_Missense_Mutation_p.S503C|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S503C|MLLT10_uc001ira.2_Translation_Start_Site|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.S258C	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	503	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						CCAACATCATCTGTAGCATCA	0.433		NaN	T	MLL|PICALM|CDK6	AL								0	0	0	0.008361	0	27	76				
RBP3	5949	broad.mit.edu	37	10	48389845	48389845	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:48389845C>T	uc001jez.2	-	1	1147	c.1033G>A	c.(1033-1035)GAC>AAC	p.D345N		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	345	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGCACACGGTCCACCAGCGTG	0.637		NaN											0	0	0	0.010729	0	11	53				
OGDHL	55753	broad.mit.edu	37	10	50966537	50966537	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:50966537G>A	uc001jie.2	-	2	244	c.102C>T	c.(100-102)TCC>TCT	p.S34S	OGDHL_uc009xog.2_Silent_p.S61S|OGDHL_uc010qgt.1_Silent_p.S34S|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	34					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CCGGTGGCCCGGAGGACCTGC	0.632		NaN											0	0	0	0.007413	0	17	27				
LRRTM3	347731	broad.mit.edu	37	10	68687370	68687370	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:68687370G>A	uc001jmz.1	+	2	1246	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.Q232Q	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	232	Extracellular (Potential).|LRR 8.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TCAGCCTTCAGAACCTTTACT	0.453		NaN											0	0	0	0.003271	0	31	69				
KIAA1274	27143	broad.mit.edu	37	10	72324122	72324122	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:72324122G>A	uc001jrd.3	+	19	2546	c.2265G>A	c.(2263-2265)GCG>GCA	p.A755A	KIAA1274_uc001jre.3_Silent_p.A46A	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	755										ovary(2)|central_nervous_system(1)	3						TCCTCCAGGCGAAGGCAGCGA	0.617		NaN											0	0	0	0.004878	0	30	56				
SLC29A3	55315	broad.mit.edu	37	10	73111520	73111520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:73111520G>C	uc001jrr.3	+	4	642	c.585G>C	c.(583-585)ATG>ATC	p.M195I	SLC29A3_uc001jrs.3_Missense_Mutation_p.M195I|SLC29A3_uc010qjq.1_Missense_Mutation_p.M49I|SLC29A3_uc001jrt.3_Intron|SLC29A3_uc001jru.3_Missense_Mutation_p.M7I	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	195	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CCTTTCCTATGAGGAACTCCC	0.577		NaN											0	0	0	0.00245	0	10	17				
CDH23	64072	broad.mit.edu	37	10	73464806	73464806	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:73464806A>G	uc001jrx.3	+	24	3249	c.2872A>G	c.(2872-2874)ATC>GTC	p.I958V	CDH23_uc001jry.2_Missense_Mutation_p.I574V|CDH23_uc001jrz.2_Missense_Mutation_p.I574V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	958	Cadherin 9.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCGCGAGCGCATCGCGGAGTA	0.677		NaN											0	0	0	0.014323	0	18	41				
HPSE2	60495	broad.mit.edu	37	10	100249921	100249921	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:100249921C>G	uc001kpn.1	-	10	1413	c.1353G>C	c.(1351-1353)CTG>CTC	p.L451L	HPSE2_uc009xwc.1_Silent_p.L441L|HPSE2_uc001kpo.1_Silent_p.L383L|HPSE2_uc009xwd.1_Silent_p.L329L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	451					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGGGCCGATCAGGCGCTTGT	0.552		NaN											0	0	0	0.01441	0	42	67				
MGEA5	10724	broad.mit.edu	37	10	103567511	103567511	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103567511C>T	uc001ktv.2	-	5	1071	c.628G>A	c.(628-630)GAA>AAA	p.E210K	MGEA5_uc010qqe.1_Missense_Mutation_p.E210K|MGEA5_uc009xws.2_Missense_Mutation_p.E210K|MGEA5_uc001ktw.2_Missense_Mutation_p.E210K|MGEA5_uc009xwt.2_Missense_Mutation_p.E68K|MGEA5_uc010qqf.1_RNA	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	210					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGGAAAGTTTCTGGCTCTCCT	0.393		NaN											0	0	0	0.012319	0	18	114				
PPRC1	23082	broad.mit.edu	37	10	103906708	103906708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103906708G>C	uc001kum.2	+	9	3998	c.3959G>C	c.(3958-3960)CGA>CCA	p.R1320P	PPRC1_uc001kun.2_Missense_Mutation_p.R1200P|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGGCTCCCGATGGAATGTC	0.607		NaN											0	0	0	0.010729	0	11	42				
PPRC1	23082	broad.mit.edu	37	10	103908426	103908426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103908426G>C	uc001kum.2	+	11	4631	c.4592G>C	c.(4591-4593)AGA>ACA	p.R1531T	PPRC1_uc001kun.2_Missense_Mutation_p.R1409T|PPRC1_uc010qqj.1_Missense_Mutation_p.R1267T|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1531	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAAAGGCAAAGAGTGCTACAA	0.493		NaN											0	0	0	0.01441	0	41	104				
PPRC1	23082	broad.mit.edu	37	10	103909067	103909067	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:103909067G>C	uc001kum.2	+	13	4911	c.4872G>C	c.(4870-4872)AAG>AAC	p.K1624N	PPRC1_uc001kun.2_Missense_Mutation_p.K1502N|PPRC1_uc010qqj.1_Missense_Mutation_p.K1360N|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTTCTGCAAGAGGAGCTATT	0.557		NaN											0	0	0	0.008361	0	28	65				
CALHM2	51063	broad.mit.edu	37	10	105207266	105207266	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:105207266G>C	uc001kwz.2	-	3	1001	c.615C>G	c.(613-615)CTC>CTG	p.L205L	CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	205	Helical; (Potential).					integral to membrane				skin(1)	1						AGTAATGCTTGAGGCACTTGG	0.617		NaN											0	0	0	0.009096	0	3	38				
COL17A1	1308	broad.mit.edu	37	10	105819447	105819447	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:105819447C>G	uc001kxr.2	-	15	1340	c.1171G>C	c.(1171-1173)GAA>CAA	p.E391Q	COL17A1_uc010qqv.1_Missense_Mutation_p.E375Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	391	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTTGCTTTTCTTTTTTTAGG	0.438		NaN											0	0	0	0.014323	0	19	38				
SORCS3	22986	broad.mit.edu	37	10	107007054	107007054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:107007054G>C	uc001kyi.1	+	22	3297	c.3070G>C	c.(3070-3072)GAT>CAT	p.D1024H	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1024	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGAGAAAAGATATTGGCAA	0.383		NaN											0	0	0	0.009535	0	24	46				
FOXI2	399823	broad.mit.edu	37	10	129537070	129537070	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:129537070G>A	uc009yas.2	+	2	798	c.798G>A	c.(796-798)CTG>CTA	p.L266L	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	266					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CCGGGGGCCTGGCGGGCGACT	0.701		NaN											0	0	0	0.001168	0	4	3				
INPP5A	3632	broad.mit.edu	37	10	134459392	134459392	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr10:134459392G>A	uc001llp.2	+	3	386	c.138G>A	c.(136-138)CCG>CCA	p.P46P	INPP5A_uc001llo.1_Silent_p.P46P|INPP5A_uc001llq.2_5'UTR	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	46					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CACACAAGCCGCACTTCATGG	0.612		NaN											0	0	0	0.007291	0	20	34				
MUC6	4588	broad.mit.edu	37	11	1028937	1028937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:1028937C>T	uc001lsw.2	-	12	1456	c.1405G>A	c.(1405-1407)GAG>AAG	p.E469K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	469	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGACCACCTCGTCCTGAGAG	0.627		NaN											0	0	0	0.013114	0	33	49				
HIPK3	10114	broad.mit.edu	37	11	33370177	33370177	+	Nonsense_Mutation	SNP	C	C	T	rs150770633		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:33370177C>T	uc001mul.1	+	13	2749	c.2479C>T	c.(2479-2481)CAG>TAG	p.Q827*	HIPK3_uc001mum.1_Nonsense_Mutation_p.Q806*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q806*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	827	Interaction with FAS (By similarity).|Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						ACAGGACAATCAGAACTCAGA	0.378		NaN											0	0	0	0.00623	0	36	42				
OR5M8	219484	broad.mit.edu	37	11	56258214	56258214	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:56258214G>A	uc001nix.1	-	1	633	c.633C>T	c.(631-633)TTC>TTT	p.F211F		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					TACATATGATGAAGAGAGAAA	0.433		NaN											0	0	0	0.004482	0	8	69				
GLYATL1	92292	broad.mit.edu	37	11	58711103	58711103	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:58711103G>A	uc001nnf.2	+	3	298	c.-78G>A	c.(-80--76)TTGTG>TTATG		uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.V38M|GLYATL1_uc001nni.1_Translation_Start_Site|GLYATL1_uc001nnj.1_Translation_Start_Site			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;							mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	ggatccaattgtgtccattga	0		NaN											0	0	0	0.010729	0	9	56				
TCN1	6947	broad.mit.edu	37	11	59623355	59623355	+	Missense_Mutation	SNP	G	G	C	rs146250932	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:59623355G>C	uc001noj.2	-	6	1022	c.924C>G	c.(922-924)TGC>TGG	p.C308W		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	308					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCAGAGACGCAAGAAGAGT	0.443		NaN											0	0	0	0.004656	0	20	66				
EML3	256364	broad.mit.edu	37	11	62378418	62378418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62378418G>A	uc001ntu.1	-	4	807	c.499C>T	c.(499-501)CGG>TGG	p.R167W	EML3_uc001ntr.1_Missense_Mutation_p.R139W|EML3_uc001nts.1_Missense_Mutation_p.R139W|EML3_uc001ntt.1_Missense_Mutation_p.R51W|EML3_uc010rly.1_Missense_Mutation_p.R167W|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	167						cytoplasm|microtubule	protein binding			ovary(1)	1						AGCTTCTGCCGAGGCCGCTCT	0.612		NaN											0	0	0	0.003163	0	12	74				
GANAB	23193	broad.mit.edu	37	11	62398090	62398090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62398090C>G	uc001nub.2	-	11	1402	c.1369G>C	c.(1369-1371)GCT>CCT	p.A457P	GANAB_uc001nua.2_Missense_Mutation_p.A479P|GANAB_uc001nuc.2_Missense_Mutation_p.A360P|GANAB_uc010rma.1_Missense_Mutation_p.A365P|GANAB_uc010rmb.1_Missense_Mutation_p.A343P	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	457					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CTCTTAGAAGCCAAGCGCTCA	0.537		NaN											0	0	0	0.009096	0	4	45				
GANAB	23193	broad.mit.edu	37	11	62398117	62398117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62398117G>A	uc001nub.2	-	11	1375	c.1342C>T	c.(1342-1344)CAG>TAG	p.Q448*	GANAB_uc001nua.2_Nonsense_Mutation_p.Q470*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q351*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q356*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q334*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	448					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GTGCGGGGCTGAGGGAAGCGA	0.547		NaN											0	0	0	0.001855	0	11	58				
INTS5	80789	broad.mit.edu	37	11	62416959	62416959	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:62416959G>A	uc001nud.2	-	2	646	c.593C>T	c.(592-594)TCG>TTG	p.S198L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	198					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AATGAGAGCCGAGAGGCACTG	0.532		NaN											0	0	0	0.003755	0	31	102				
CDCA5	113130	broad.mit.edu	37	11	64846584	64846584	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:64846584C>G	uc001ocp.2	-	6	919	c.754G>C	c.(754-756)GAA>CAA	p.E252Q		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	252					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0						GCATCTCATTCAACCAGGAGA	0.572		NaN											0	0	0	0.010504	0	14	29				
SLC22A20	440044	broad.mit.edu	37	11	64981715	64981715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:64981715C>G	uc010roc.1	+	1	369	c.366C>G	c.(364-366)ATC>ATG	p.I122M	SLC22A20_uc010rob.1_Missense_Mutation_p.I122M	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	122	Extracellular (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CGTCCACCATCGTGATGGAGG	0.657		NaN											0	0	0	0.009096	0	4	12				
SF3B2	10992	broad.mit.edu	37	11	65824372	65824372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:65824372C>T	uc001ogy.1	+	6	653	c.613C>T	c.(613-615)CGG>TGG	p.R205W	SF3B2_uc001ogx.1_Missense_Mutation_p.R204W	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	205					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCCAGTCCCTCGGCCCCCACA	0.587		NaN											0	0	0	0.012319	0	17	66				
CLCF1	23529	broad.mit.edu	37	11	67134963	67134963	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:67134963C>G	uc001okq.2	-	2	347	c.151G>C	c.(151-153)GAG>CAG	p.E51Q	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.E41Q	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	51					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AGTTGGTGCTCCAGGTAGCGG	0.602		NaN											0	0	0	0.00874	0	37	97				
SHANK2	22941	broad.mit.edu	37	11	70332669	70332669	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:70332669G>A	uc001oqc.2	-	21	3807	c.3729C>T	c.(3727-3729)CTC>CTT	p.L1243L	SHANK2_uc010rqn.1_Silent_p.L655L|SHANK2_uc001opz.2_Silent_p.L648L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	864					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGTTTGTTGAGGTCGGCCT	0.632		NaN											0	0	0	0.008291	0	8	97				
ARAP1	116985	broad.mit.edu	37	11	72437906	72437906	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:72437906G>A	uc001osu.2	-	3	457	c.268C>T	c.(268-270)CGC>TGC	p.R90C	ARAP1_uc001osv.2_Missense_Mutation_p.R90C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	90					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GGTGGTGAGCGGAAGATGTGG	0.726		NaN											0	0	0	0.009096	0	3	14				
C2CD3	26005	broad.mit.edu	37	11	73814626	73814626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:73814626G>C	uc001ouu.2	-	14	2357	c.2130C>G	c.(2128-2130)ATC>ATG	p.I710M		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	710						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					ACTTAGTATTGATACCAGTGA	0.373		NaN											0	0	0	0.004656	0	26	47				
SERPINH1	871	broad.mit.edu	37	11	75282943	75282943	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:75282943G>C	uc001owr.2	+	5	1301	c.1072G>C	c.(1072-1074)GAG>CAG	p.E358Q	SERPINH1_uc009yug.2_Missense_Mutation_p.E358Q|SERPINH1_uc001ows.2_Missense_Mutation_p.E358Q|SERPINH1_uc001owt.2_Missense_Mutation_p.E141Q	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	358					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					CACCGCCTTTGAGTTGGACAC	0.597		NaN											0	0	0	0.014323	0	17	27				
GDPD4	220032	broad.mit.edu	37	11	76980082	76980082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:76980082G>A	uc001oyf.2	-	8	762	c.511C>T	c.(511-513)CTT>TTT	p.L171F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	171	Helical; (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AAAAGGATAAGAAGAAAGGGT	0.438		NaN											0	0	0	0.00308	0	7	38				
NARS2	79731	broad.mit.edu	37	11	78239958	78239958	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:78239958C>T	uc001ozi.2	-	6	995	c.619G>A	c.(619-621)GAG>AAG	p.E207K	NARS2_uc010rsq.1_5'UTR	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	207					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AAATTCTCCTCAGGTACCTTA	0.353		NaN											0	0	0	0.006999	0	35	75				
EED	8726	broad.mit.edu	37	11	85961447	85961447	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:85961447C>G	uc001pbp.2	+	2	681	c.224C>G	c.(223-225)TCA>TGA	p.S75*	EED_uc010rtm.1_Nonsense_Mutation_p.S75*|EED_uc001pbq.2_Nonsense_Mutation_p.S75*|EED_uc001pbr.2_Nonsense_Mutation_p.S75*|EED_uc001pbs.2_Nonsense_Mutation_p.S75*	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	75					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AAATGGAAGTCAAAGAAATGC	0.388		NaN											0	0	0	0.013726	0	31	72				
NAALAD2	10003	broad.mit.edu	37	11	89896561	89896561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:89896561G>A	uc001pdf.3	+	10	1268	c.1159G>A	c.(1159-1161)GAA>AAA	p.E387K	NAALAD2_uc009yvx.2_Missense_Mutation_p.E354K|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.E294K	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	387	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTTTGCAAGAAATTGCCCG	0.398		NaN											0	0	0	0.01441	0	52	101				
PIWIL4	143689	broad.mit.edu	37	11	94316613	94316613	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:94316613G>A	uc001pfa.2	+	5	725	c.514_splice	c.e5-1	p.V172_splice	PIWIL4_uc010rue.1_Splice_Site|PIWIL4_uc009ywk.1_Splice_Site	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4						cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTTTTCCCAGGTCACAGAGT	0.418		NaN											0	0	0	0.01441	0	71	165				
CASP5	838	broad.mit.edu	37	11	104871143	104871143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:104871143G>A	uc010rva.1	-	6	829	c.797C>T	c.(796-798)TCT>TTT	p.S266F	CASP5_uc010ruz.1_Missense_Mutation_p.S279F|CASP5_uc010rvb.1_Missense_Mutation_p.S208F|CASP5_uc010rvc.1_Missense_Mutation_p.S124F|CASP5_uc009yxh.2_Missense_Mutation_p.S48F|CASP5_uc010rvd.1_Missense_Mutation_p.S48F	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	266					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATGCCATGAGACATGAGTAC	0.463		NaN											0	0	0	0.005443	0	23	70				
SLC35F2	54733	broad.mit.edu	37	11	107673745	107673745	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:107673745G>C	uc001pjq.2	-	7	1342	c.921C>G	c.(919-921)CTC>CTG	p.L307L	SLC35F2_uc010rvu.1_Silent_p.L159L	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	307	Helical; (Potential).				transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAAACAGAAAGAGTCCAACAA	0.428		NaN											0	0	0	0.010504	0	18	42				
NPAT	4863	broad.mit.edu	37	11	108044182	108044182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:108044182G>C	uc001pjz.3	-	13	1631	c.1529C>G	c.(1528-1530)ACT>AGT	p.T510S	NPAT_uc001pka.2_Missense_Mutation_p.T305S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	510					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AACAAATGAAGTTATTGGTAT	0.363		NaN											0	0	0	0.01441	0	43	91				
SIK2	23235	broad.mit.edu	37	11	111594445	111594445	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:111594445C>G	uc001plt.2	+	15	2491	c.2373C>G	c.(2371-2373)CTC>CTG	p.L791L		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	791					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						GCCCTTTCCTCAGCCAGTACC	0.632		NaN											0	0	0	0.01441	0	136	297				
DSCAML1	57453	broad.mit.edu	37	11	117302289	117302289	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:117302289C>G	uc001prh.1	-	31	5517	c.5515G>C	c.(5515-5517)GAG>CAG	p.E1839Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1779	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGTCACTCTCAGTGACCGTG	0.632		NaN											0	0	0	0.014323	0	21	59				
MPZL2	10205	broad.mit.edu	37	11	118128003	118128003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:118128003C>G	uc001psn.2	-	5	751	c.610G>C	c.(610-612)GAG>CAG	p.E204Q	MPZL2_uc001pso.2_Missense_Mutation_p.E204Q	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	204	Cytoplasmic (Potential).				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ACCTTTTTCTCTTGGTTGAGC	0.388		NaN											0	0	0	0.001855	0	12	84				
CBL	867	broad.mit.edu	37	11	119167741	119167741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:119167741C>T	uc001pwe.2	+	13	2288	c.2150C>T	c.(2149-2151)TCA>TTA	p.S717L		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	717	Interaction with CD2AP.|Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCAGAGTTCACGGTAGGTT	0.507		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	0.01441	0	40	71				
NFRKB	4798	broad.mit.edu	37	11	129762708	129762708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr11:129762708C>G	uc001qfi.2	-	3	238	c.37G>C	c.(37-39)GAA>CAA	p.E13Q	NFRKB_uc001qfg.2_Missense_Mutation_p.E26Q|NFRKB_uc001qfh.2_Missense_Mutation_p.E36Q|NFRKB_uc010sbw.1_Missense_Mutation_p.E13Q	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	13					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGACCAAGTTCCAGAGGATCT	0.517		NaN											0	0	0	0.012213	0	29	136				
B4GALNT3	283358	broad.mit.edu	37	12	660168	660168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:660168C>T	uc001qii.1	+	11	1078	c.1078C>T	c.(1078-1080)CCT>TCT	p.P360S	B4GALNT3_uc001qij.1_Missense_Mutation_p.P262S|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	360	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGATGGGCTTCCTCTGCAGCG	0.607		NaN											0	0	0	0.005524	0	31	69				
DCP1B	196513	broad.mit.edu	37	12	2061674	2061674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:2061674G>A	uc001qjx.1	-	7	1512	c.1432C>T	c.(1432-1434)CCT>TCT	p.P478S	DCP1B_uc010sdy.1_Missense_Mutation_p.P376S	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	478					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GCGAGCACAGGAAACTTAGCG	0.512		NaN											0	0	0	0.00499	0	17	35				
LRP6	4040	broad.mit.edu	37	12	12318175	12318175	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:12318175G>T	uc001rah.3	-	8	1742	c.1600C>A	c.(1600-1602)CAC>AAC	p.H534N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H534N	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	534	Beta-propeller 2.|Extracellular (Potential).|LDL-receptor class B 9.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CCAAATATGTGAGGAATTTTG	0.398		NaN											1	0	4.97629e-18	0.01441	5.61156e-18	58	126				
PIK3C2G	5288	broad.mit.edu	37	12	18650568	18650568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:18650568C>T	uc001rdt.2	+	21	2895	c.2779C>T	c.(2779-2781)CGT>TGT	p.R927C	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R968C|PIK3C2G_uc010sic.1_Missense_Mutation_p.R746C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	927	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				AGATGATCTTCGTCAGGATAT	0.363		NaN											0	0	0	0.013537	0	8	41				
SLCO1B1	10599	broad.mit.edu	37	12	21392046	21392046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:21392046G>A	uc001req.3	+	15	2103	c.1999G>A	c.(1999-2001)GAA>AAA	p.E667K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	667	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGTCATGGATGAAGCAAACTT	0.318		NaN											0	0	0	0.00308	0	8	28				
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:21958120C>T	uc001rfi.1	-	38	4658	c.4638G>A	c.(4636-4638)ATG>ATA	p.M1546I	ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1546	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1546H(1)		ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438		NaN											0	0	0	0.010504	0	16	62				
IRAK4	51135	broad.mit.edu	37	12	44176171	44176171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:44176171G>C	uc001rnu.3	+	10	1133	c.1003G>C	c.(1003-1005)GCT>CCT	p.A335P	IRAK4_uc001rnt.3_Missense_Mutation_p.A335P|IRAK4_uc001rnx.3_Missense_Mutation_p.A211P|IRAK4_uc001rny.3_Missense_Mutation_p.A211P|IRAK4_uc010sky.1_Missense_Mutation_p.A211P|IRAK4_uc001rnv.3_Missense_Mutation_p.A211P|IRAK4_uc001rnw.3_Missense_Mutation_p.A211P	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	335	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTGCACGGGCTTCTGAGAA	0.388		NaN											0	0	0	0.008871	0	16	41				
COL2A1	1280	broad.mit.edu	37	12	48375126	48375126	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:48375126C>T	uc001rqu.2	-	37	2644	c.2463G>A	c.(2461-2463)CCG>CCA	p.P821P	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.P752P	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	821	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGACACTCACCGGAGCGCCAC	0.662		NaN											0	0	0	0.010729	0	8	16				
MLL2	8085	broad.mit.edu	37	12	49448457	49448457	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:49448457A>G	uc001rta.3	-	3	254	c.254T>C	c.(253-255)TTT>TCT	p.F85S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	85					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGGCAACTCAAAGCGCCGTAG	0.622		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.004672	0	3	10		Valid		
KRT80	144501	broad.mit.edu	37	12	52574306	52574306	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:52574306G>T	uc001rzx.2	-	4	755	c.657C>A	c.(655-657)ATC>ATA	p.I219I	KRT80_uc001rzw.2_Silent_p.I254I|KRT80_uc001rzy.2_Silent_p.I219I	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	219	Coil 1B.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		CCTGCTCATAGATGGTTTTCA	0.552		NaN											1	0	4.67007e-22	0.00874	5.38073e-22	36	158				
KRT76	51350	broad.mit.edu	37	12	53165706	53165706	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:53165706G>C	uc001sax.2	-	6	1266	c.1212C>G	c.(1210-1212)CTC>CTG	p.L404L		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	404	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						TCATCCTGTTGAGCTCCATGA	0.547		NaN											0	0	0	0.01441	0	44	91				
PTPRB	5787	broad.mit.edu	37	12	70956762	70956762	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:70956762G>C	uc001swb.3	-	14	3406	c.3376C>G	c.(3376-3378)CTC>GTC	p.L1126V	PTPRB_uc010sto.1_Missense_Mutation_p.L1036V|PTPRB_uc010stp.1_Missense_Mutation_p.L1036V|PTPRB_uc001swc.3_Missense_Mutation_p.L1344V|PTPRB_uc001swa.3_Missense_Mutation_p.L1256V|PTPRB_uc001swd.3_Missense_Mutation_p.L1343V|PTPRB_uc009zrr.1_Missense_Mutation_p.L1223V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1126	Fibronectin type-III 13.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCTCCTGGAGATTCCCATCT	0.512		NaN											0	0	0	0.004482	0	8	60				
TBC1D15	64786	broad.mit.edu	37	12	72312286	72312286	+	Silent	SNP	C	C	T	rs141790587	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:72312286C>T	uc001swu.2	+	15	1683	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	TBC1D15_uc010stt.1_Silent_p.F527F|TBC1D15_uc001swv.2_Silent_p.F541F|TBC1D15_uc001sww.2_Silent_p.F290F	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	536	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0						TAATCAGATTCAAAAGGGAAT	0.294		NaN											0	0	0	0.003271	0	27	92				
NAV3	89795	broad.mit.edu	37	12	78400995	78400995	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:78400995G>A	uc001syp.2	+	8	1850	c.1677G>A	c.(1675-1677)GGG>GGA	p.G559G	NAV3_uc001syo.2_Silent_p.G559G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	559						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTACCAAGGGGAGCCCTTCCC	0.483		NaN								HNSCC(70;0.22)			0	0	0	0.014323	0	19	46				
LRRIQ1	84125	broad.mit.edu	37	12	85450069	85450069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:85450069G>A	uc001tac.2	+	8	1609	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	LRRIQ1_uc001tab.1_Missense_Mutation_p.E500K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E475K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	500										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GGTCAAGCAAGAAAGAAAATA	0.303		NaN											0	0	0	0.001855	0	10	37				
UTP20	27340	broad.mit.edu	37	12	101682793	101682793	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:101682793G>C	uc001tia.1	+	6	727	c.571G>C	c.(571-573)GAA>CAA	p.E191Q	UTP20_uc009ztz.1_Missense_Mutation_p.E191Q	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	191	HEAT 1.				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TTTTGCTGCTGAAAGTTTTAC	0.254		NaN											0	0	0	0.006214	0	8	29				
UTP20	27340	broad.mit.edu	37	12	101767377	101767377	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:101767377G>C	uc001tia.1	+	54	7119	c.6963G>C	c.(6961-6963)GAG>GAC	p.E2321D		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2321					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TGCTCCATGAGAACTGCGGAA	0.478		NaN											0	0	0	0.007413	0	15	25				
NT5DC3	51559	broad.mit.edu	37	12	104187715	104187715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:104187715C>G	uc010swe.1	-	7	855	c.814G>C	c.(814-816)GAA>CAA	p.E272Q		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	272							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						GAGCACATACCAATGTCTGCT	0.413		NaN											0	0	0	0.008361	0	21	80				
BRAP	8315	broad.mit.edu	37	12	112123571	112123571	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:112123571C>G	uc001tsn.3	-	1	220	c.26G>C	c.(25-27)CGA>CCA	p.R9P	BRAP_uc009zvv.2_5'Flank|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	9					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GAGCTCCAATCGGATAACAAC	0.612		NaN											0	0	0	0.008291	0	9	12				
RNF10	9921	broad.mit.edu	37	12	121001720	121001720	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:121001720G>C	uc001typ.3	+	10	2122	c.1639G>C	c.(1639-1641)GAG>CAG	p.E547Q	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E458Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	547					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTGTGGTGGAGATTGCTGG	0.552		NaN											0	0	0	0.004656	0	19	153				
KNTC1	9735	broad.mit.edu	37	12	123095437	123095437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:123095437C>T	uc001ucv.2	+	53	5775	c.5612C>T	c.(5611-5613)TCA>TTA	p.S1871L	KNTC1_uc010taf.1_Missense_Mutation_p.S796L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1871					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGCAACATCAACTACAACC	0.333		NaN											0	0	0	0.003163	0	12	47				
ULK1	8408	broad.mit.edu	37	12	132404537	132404537	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr12:132404537G>C	uc001uje.2	+	26	3085	c.2817G>C	c.(2815-2817)CTG>CTC	p.L939L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	939					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCGCAGGCTGAATGAGCTGT	0.647		NaN											0	0	0	0.010729	0	9	48				
MPHOSPH8	54737	broad.mit.edu	37	13	20242605	20242605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:20242605C>G	uc001umh.2	+	11	2272	c.2263C>G	c.(2263-2265)CGA>GGA	p.R755G	MPHOSPH8_uc001umg.2_Missense_Mutation_p.R755G	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	755					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CGCATGTCATCGACTCTGTGA	0.413		NaN											0	0	0	0.006214	0	10	32				
XPO4	64328	broad.mit.edu	37	13	21442798	21442798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:21442798C>G	uc001unq.3	-	2	148	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	XPO4_uc010tcr.1_Intron	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	38					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATATGTGCTCTGCATGCTGG	0.323		NaN											0	0	0	0.01441	0	54	121				
ATP12A	479	broad.mit.edu	37	13	25280593	25280593	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:25280593C>A	uc001upp.2	+	15	2348	c.2161C>A	c.(2161-2163)CAG>AAG	p.Q721K	ATP12A_uc010aaa.2_Missense_Mutation_p.Q727K	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	721	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAGGGCTGTCAGAGGCAGGT	0.567		NaN											1	0	7.87624e-14	0.00278	8.5829e-14	18	29				
USPL1	10208	broad.mit.edu	37	13	31205593	31205593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:31205593C>T	uc001utc.2	+	4	1282	c.850C>T	c.(850-852)CAA>TAA	p.Q284*	USPL1_uc001utb.2_Nonsense_Mutation_p.Q103*|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	284					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATATACCAGTCAATTGAGTGG	0.249		NaN											0	0	0	0.00333	0	20	62				
FRY	10129	broad.mit.edu	37	13	32808828	32808828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:32808828C>A	uc001utx.2	+	42	6141	c.5645C>A	c.(5644-5646)TCA>TAA	p.S1882*	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAACCTCTGTCAGCACATGCC	0.512		NaN											1	0	4.35082e-09	0.010504	4.63716e-09	17	41				
STOML3	161003	broad.mit.edu	37	13	39540963	39540963	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:39540963C>T	uc001uwx.2	-	7	1013	c.875G>A	c.(874-876)TGA>TAA	p.*292*	STOML3_uc010tez.1_Silent_p.*283*	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	292						integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AAGAGGACCTCAGGCTTTATT	0.443		NaN											0	0	0	0.005524	0	29	59				
PCDH8	5100	broad.mit.edu	37	13	53419572	53419572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:53419572G>C	uc001vhi.2	-	2	3030	c.2827C>G	c.(2827-2829)CAC>GAC	p.H943D	PCDH8_uc001vhj.2_Missense_Mutation_p.H846D	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	943	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCTGCATGTGGTTGATGAGA	0.532		NaN											0	0	0	0.013726	0	29	39				
DACH1	1602	broad.mit.edu	37	13	72053449	72053449	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:72053449C>T	uc010thn.1	-	9	2146	c.1723_splice	c.e9-1	p.G575_splice	DACH1_uc010tho.1_Splice_Site_p.G427_splice|DACH1_uc010thp.1_Splice_Site_p.G373_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCAACAGCCCCTGTACAAAGA	0.358		NaN											0	0	0	0.003755	0	26	109				
RNF219	79596	broad.mit.edu	37	13	79190193	79190193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:79190193G>C	uc001vkw.1	-	6	1762	c.1703C>G	c.(1702-1704)TCA>TGA	p.S568*	uc001vku.1_RNA|RNF219_uc010afb.1_Nonsense_Mutation_p.S378*|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	568	Ser-rich.						zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGATGACTTTGATAACCCATC	0.383		NaN											0	0	0	0.01441	0	63	133				
CLYBL	171425	broad.mit.edu	37	13	100523272	100523272	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr13:100523272G>A	uc001vok.2	+	7	897	c.883G>A	c.(883-885)GAA>AAA	p.E295K	CLYBL_uc010tiy.1_Missense_Mutation_p.E261K	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	295					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAGTGGGCTGAAGAACTGAT	0.393		NaN											0	0	0	0.00333	0	22	69				
SALL2	6297	broad.mit.edu	37	14	21991095	21991095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:21991095G>A	uc001wbe.2	-	2	3049	c.2767C>T	c.(2767-2769)CAG>TAG	p.Q923*	SALL2_uc010tly.1_Nonsense_Mutation_p.Q921*|SALL2_uc010tlz.1_Nonsense_Mutation_p.Q786*|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Nonsense_Mutation_p.Q788*|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	923	C2H2-type 6.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGAGCTGCCTGGGAGGGAAAG	0.597		NaN											0	0	0	0.00632	0	27	68				
LRP10	26020	broad.mit.edu	37	14	23342569	23342569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23342569G>C	uc001whd.2	+	3	682	c.129G>C	c.(127-129)CAG>CAC	p.Q43H	LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	43	CUB 1.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCACCTTACAGAGGCCCCTGG	0.602		NaN											0	0	0	0.005443	0	26	53				
ACIN1	22985	broad.mit.edu	37	14	23530572	23530572	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23530572G>C	uc001wit.3	-	17	3861	c.3533C>G	c.(3532-3534)TCA>TGA	p.S1178*	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.S420*|ACIN1_uc001wir.3_Nonsense_Mutation_p.S451*|ACIN1_uc001wis.3_Nonsense_Mutation_p.S859*|ACIN1_uc010akg.2_Nonsense_Mutation_p.S1165*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1178	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACGGGACCTTGATCGGGAACG	0.567		NaN											0	0	0	0.00623	0	33	105				
MYH6	4624	broad.mit.edu	37	14	23858626	23858626	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23858626T>G	uc001wjv.2	-	28	4021	c.3954A>C	c.(3952-3954)AAA>AAC	p.K1318N	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1318	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTGCCTTTTGAGGTCCT	0.607		NaN											0	0	0	0.006122	0	16	124				
MYH7	4625	broad.mit.edu	37	14	23891402	23891402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:23891402C>G	uc001wjx.2	-	25	3338	c.3232G>C	c.(3232-3234)GAG>CAG	p.E1078Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1078	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCCGCTCATCCAGCTGC	0.592		NaN											0	0	0	0.003271	0	27	89				
RABGGTA	5875	broad.mit.edu	37	14	24738898	24738898	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:24738898G>A	uc001wof.2	-	5	852	c.430C>T	c.(430-432)CAC>TAC	p.H144Y	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.H144Y|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	144	PFTA 3.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		TCCCAGCAGTGAACTGGAGGG	0.587		NaN											0	0	0	0.013537	0	11	13				
CDKL1	8814	broad.mit.edu	37	14	50825768	50825768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:50825768C>T	uc010anu.1	-	14	2083	c.2083G>A	c.(2083-2085)GAG>AAG	p.E695K	CDKL1_uc001wxz.2_Missense_Mutation_p.E91K	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	90	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					CTGTCCAACTCATGGAGAACT	0.453		NaN											0	0	0	0.01441	0	50	145				
TXNDC16	57544	broad.mit.edu	37	14	52905928	52905928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:52905928G>C	uc001wzs.2	-	20	2637	c.2188C>G	c.(2188-2190)CAT>GAT	p.H730D	TXNDC16_uc010tqu.1_Missense_Mutation_p.H725D|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	730					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TTACTGATATGATTTTCTAGT	0.333		NaN											0	0	0	0.008291	0	9	41				
GMFB	2764	broad.mit.edu	37	14	54950455	54950455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:54950455C>A	uc010tqz.1	-	2	133	c.34G>T	c.(34-36)GAA>TAA	p.E12*	GMFB_uc001xaw.1_RNA	NM_004124	NP_004115	P60983	GMFB_HUMAN	glia maturation factor, beta	12	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0						ACTAAATCTTCGGCAACATCA	0.338		NaN											1	0	3.32936e-07	0.006122	3.50364e-07	11	29				
ARID4A	5926	broad.mit.edu	37	14	58831818	58831818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:58831818C>G	uc001xdp.2	+	20	3265	c.3011C>G	c.(3010-3012)TCA>TGA	p.S1004*	ARID4A_uc001xdo.2_Nonsense_Mutation_p.S1004*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.S1004*|ARID4A_uc010apg.1_Nonsense_Mutation_p.S682*	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	1004					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						CATAACTTTTCAGTAGCTTCA	0.403		NaN											0	0	0	0.010504	0	19	170				
KIAA0586	9786	broad.mit.edu	37	14	58895165	58895165	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:58895165G>C	uc001xdv.3	+	1	456	c.183G>C	c.(181-183)TTG>TTC	p.L61F	KIAA0586_uc010trr.1_Missense_Mutation_p.L61F|KIAA0586_uc001xdt.3_Intron|KIAA0586_uc001xdu.3_Missense_Mutation_p.L46F|KIAA0586_uc010trs.1_Intron|TIMM9_uc010aph.2_5'Flank|TIMM9_uc001xds.2_5'Flank|TIMM9_uc010api.2_5'Flank	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	61										ovary(1)	1						GGACTAGTTTGAATGGAACAT	0.383		NaN											0	0	0	0.004656	0	20	55				
PPP2R5E	5529	broad.mit.edu	37	14	63851225	63851225	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:63851225G>C	uc001xgd.1	-	12	1729	c.1139C>G	c.(1138-1140)TCT>TGT	p.S380C	PPP2R5E_uc010tsf.1_Missense_Mutation_p.S304C|PPP2R5E_uc010tsg.1_Missense_Mutation_p.S304C|PPP2R5E_uc001xge.2_Missense_Mutation_p.S380C|PPP2R5E_uc010tsh.1_Missense_Mutation_p.S380C|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	380					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GATGACGTTAGAGTTTTCTTC	0.363		NaN											0	0	0	0.01441	0	47	123				
SYNE2	23224	broad.mit.edu	37	14	64518876	64518876	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:64518876G>A	uc001xgm.2	+	48	8475	c.8245G>A	c.(8245-8247)GAA>AAA	p.E2749K	SYNE2_uc001xgl.2_Missense_Mutation_p.E2749K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2749	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGTTGGGTGAACTTAATCC	0.413		NaN											0	0	0	0.01441	0	61	199				
TTC8	123016	broad.mit.edu	37	14	89336504	89336504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:89336504C>G	uc010ath.2	+	11	1193	c.1059C>G	c.(1057-1059)TTC>TTG	p.F353L	TTC8_uc001xxl.2_Missense_Mutation_p.F98L|TTC8_uc010ati.2_Missense_Mutation_p.F139L|TTC8_uc001xxm.2_Missense_Mutation_p.F297L|TTC8_uc010atj.2_Missense_Mutation_p.F72L|TTC8_uc001xxi.2_Missense_Mutation_p.F337L|TTC8_uc001xxj.2_Missense_Mutation_p.F327L|TTC8_uc001xxk.2_Missense_Mutation_p.F297L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	363	TPR 5.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						GCAACCACTTCTATTCTGATC	0.363		NaN							Bardet-Biedl_syndrome				0	0	0	0.01441	0	94	131				
TDP1	55775	broad.mit.edu	37	14	90429788	90429788	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:90429788C>G	uc001xxy.2	+	3	629	c.330C>G	c.(328-330)ATC>ATG	p.I110M	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.I110M|TDP1_uc010atn.2_Missense_Mutation_p.I110M|TDP1_uc001xya.2_Translation_Start_Site|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I110M|TDP1_uc001xyc.1_Missense_Mutation_p.I110M	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	110					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AAGTGGTGATCAAAAAGGAGA	0.542		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.004656	0	24	53				
GPR68	8111	broad.mit.edu	37	14	91701248	91701248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:91701248C>G	uc001xzg.2	-	2	488	c.147G>C	c.(145-147)CAG>CAC	p.Q49H	GPR68_uc001xzh.2_Missense_Mutation_p.Q59H	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	49	Cytoplasmic (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.N49S(1)		kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGGCCTTGATCTGCAGGTAGC	0.622		NaN											0	0	0	0.010504	0	15	32				
TRIP11	9321	broad.mit.edu	37	14	92471718	92471718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:92471718C>G	uc001xzy.2	-	11	3390	c.2602G>C	c.(2602-2604)GAA>CAA	p.E868Q	TRIP11_uc010auf.1_Missense_Mutation_p.E604Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	868	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		CGTTCCAATTCTTCTTGCAGA	0.418		NaN	T	PDGFRB	AML								0	0	0	0.004656	0	24	68				
HSP90AA1	3320	broad.mit.edu	37	14	102551299	102551299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:102551299C>A	uc001yku.3	-	5	890	c.700G>T	c.(700-702)GAG>TAG	p.E234*	HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.E356*|HSP90AA1_uc001ykw.1_Nonsense_Mutation_p.E55*|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.E223*	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	234					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	tcttcAGCCTCATCATCGCTT	0.323		NaN											1	0	2.80697e-09	0.010729	2.99719e-09	11	26				
HSP90AA1	3320	broad.mit.edu	37	14	102552620	102552620	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:102552620C>G	uc001yku.3	-	2	286	c.96G>C	c.(94-96)TTG>TTC	p.L32F	HSP90AA1_uc001ykv.3_Missense_Mutation_p.L154F|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.L21F	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	32					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TATTGATGATCAATGACATCA	0.443		NaN											0	0	0	0.005443	0	27	71				
INF2	64423	broad.mit.edu	37	14	105172458	105172458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105172458C>G	uc001ypb.2	+	6	931	c.788C>G	c.(787-789)TCT>TGT	p.S263C	INF2_uc010tyi.1_Missense_Mutation_p.S263C|INF2_uc001ypc.2_Missense_Mutation_p.S263C|INF2_uc010awz.1_5'Flank	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	263	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGCGAGTCTCTGGCGGGGTC	0.672		NaN											0	0	0	0.006214	0	8	14				
INF2	64423	broad.mit.edu	37	14	105173276	105173276	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105173276C>G	uc001ypb.2	+	7	1016	c.873C>G	c.(871-873)CTC>CTG	p.L291L	INF2_uc010tyi.1_Silent_p.L291L|INF2_uc001ypc.2_Silent_p.L291L|INF2_uc010awz.1_5'Flank	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	291	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGCCCAGCTCCTGTCGGTGC	0.706		NaN											0	0	0	0.007413	0	15	22				
INF2	64423	broad.mit.edu	37	14	105174062	105174062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105174062C>G	uc001ypb.2	+	8	1601	c.1458C>G	c.(1456-1458)TTC>TTG	p.F486L	INF2_uc010tyi.1_Missense_Mutation_p.F486L|INF2_uc001ypc.2_Missense_Mutation_p.F486L|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	486	Pro-rich.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		cctgtgagttcctgcccccac	0.179		NaN											0	0	0	0.004672	0	2	0				
INF2	64423	broad.mit.edu	37	14	105174218	105174218	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr14:105174218C>A	uc001ypb.2	+	8	1757	c.1614C>A	c.(1612-1614)ATC>ATA	p.I538I	INF2_uc010tyi.1_Silent_p.I538I|INF2_uc001ypc.2_Silent_p.I538I|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	538					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGAGGTCATCGTGGCCCAGG	0.652		NaN											1	0	3.59834e-05	0.001168	3.73279e-05	5	23				
MTMR15	22909	broad.mit.edu	37	15	31197525	31197525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:31197525C>G	uc001zff.2	+	2	950	c.659C>G	c.(658-660)TCT>TGT	p.S220C	MTMR15_uc001zfc.3_Missense_Mutation_p.S220C|MTMR15_uc010azw.2_Missense_Mutation_p.S220C|MTMR15_uc001zfd.3_Missense_Mutation_p.S220C|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	220					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		AAATGTGATTCTCTAAAGGAA	0.393		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.010504	0	20	38				
C15orf55	256646	broad.mit.edu	37	15	34645971	34645971	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:34645971C>A	uc001zif.2	+	4	1044	c.889C>A	c.(889-891)CAG>AAG	p.Q297K	C15orf55_uc010ucc.1_Missense_Mutation_p.Q325K|C15orf55_uc010ucd.1_Missense_Mutation_p.Q315K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	297						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GATGCAGATTCAGAACACACA	0.542		NaN	T	BRD3|BRD4	lethal midline carcinoma								1	0	6.14515e-18	0.01441	6.90293e-18	41	59				
LRRC57	255252	broad.mit.edu	37	15	42839461	42839461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:42839461G>C	uc001zqd.1	-	3	858	c.490C>G	c.(490-492)CAG>GAG	p.Q164E	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.Q164E	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	164	LRR 6.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CTCTAGACCTGATTCTGGTTG	0.443		NaN											0	0	0	0.010729	0	9	59				
DMXL2	23312	broad.mit.edu	37	15	51758463	51758463	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:51758463C>T	uc002abf.2	-	30	7660	c.7435G>A	c.(7435-7437)GAA>AAA	p.E2479K	DMXL2_uc002abd.2_Missense_Mutation_p.E550K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2480K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1843K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2479						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGAATGCTTTCATCAGAATCA	0.269		NaN											0	0	0	0.01441	0	37	68				
SLTM	79811	broad.mit.edu	37	15	59191829	59191829	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:59191829C>A	uc002afp.2	-	7	985	c.897G>T	c.(895-897)ATG>ATT	p.M299I	SLTM_uc002afo.2_Missense_Mutation_p.M281I|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.M198I	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	299					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGTTCGCATTCATCTCATAAT	0.448		NaN											1	0	1.48734e-19	0.013114	1.70692e-19	37	118				
RBPMS2	348093	broad.mit.edu	37	15	65040670	65040670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65040670G>A	uc002anq.2	-	6	767	c.515C>T	c.(514-516)GCT>GTT	p.A172V		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	172							nucleic acid binding|nucleotide binding				0						GGTGAACGCAGCATGGGAGAT	0.622		NaN											0	0	0	0.007291	0	24	51				
IGDCC4	57722	broad.mit.edu	37	15	65680830	65680830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65680830G>C	uc002aou.1	-	16	3012	c.2802C>G	c.(2800-2802)TTC>TTG	p.F934L	IGDCC4_uc002aot.1_Missense_Mutation_p.F522L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	934	Extracellular (Potential).|Fibronectin type-III 5.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GCAGGCGGGAGAAAGGCCCAG	0.602		NaN											0	0	0	0.01441	0	59	169				
IGDCC4	57722	broad.mit.edu	37	15	65693281	65693281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:65693281G>A	uc002aou.1	-	5	914	c.704C>T	c.(703-705)TCC>TTC	p.S235F		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	235	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGACGCCAGGGACCCTGGCGA	0.408		NaN									OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	29	62				
LCTL	197021	broad.mit.edu	37	15	66845384	66845384	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:66845384G>T	uc002aqc.2	-	9	1267	c.1135C>A	c.(1135-1137)CTG>ATG	p.L379M	LCTL_uc002aqd.3_Missense_Mutation_p.L206M|LCTL_uc010bhw.2_Missense_Mutation_p.L77M	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	379	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TTAGACCCCAGATCTGGCCAG	0.493		NaN											1	0	4.96729e-08	0.008871	5.26533e-08	16	100				
SMAD3	4088	broad.mit.edu	37	15	67457371	67457371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:67457371G>A	uc002aqj.2	+	2	643	c.345G>A	c.(343-345)ATG>ATA	p.M115I	SMAD3_uc010ujr.1_Missense_Mutation_p.M10I|SMAD3_uc010ujs.1_Missense_Mutation_p.M71I|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	115	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTTCAATATGAAGAAGGACG	0.602		NaN											0	0	0	0.007413	0	15	99				
HMG20A	10363	broad.mit.edu	37	15	77770687	77770687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:77770687G>T	uc002bcr.2	+	9	943	c.742G>T	c.(742-744)GAG>TAG	p.E248*	HMG20A_uc002bcs.2_Nonsense_Mutation_p.E248*	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	high-mobility group 20A	248	Potential.				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GGAGTTTGAGGAGAGGAATGC	0.557		NaN											1	0	4.87955e-14	0.005443	5.34733e-14	26	64				
AKAP13	11214	broad.mit.edu	37	15	86064775	86064775	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:86064775C>T	uc002blv.1	+	3	320	c.150C>T	c.(148-150)GTC>GTT	p.V50V	AKAP13_uc002bls.2_Silent_p.V50V|AKAP13_uc002blt.1_Silent_p.V50V|AKAP13_uc002blu.1_Silent_p.V50V	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	50					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTCGGAAGGTCAGTTCTGATA	0.418		NaN											0	0	0	0.008871	0	17	103				
NTRK3	4916	broad.mit.edu	37	15	88576243	88576243	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:88576243G>C	uc002bme.1	-	13	1592	c.1430C>G	c.(1429-1431)TCA>TGA	p.S477*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.S469*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.S477*|NTRK3_uc010upl.1_Nonsense_Mutation_p.S379*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.S469*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.S477*|NTRK3_uc010bni.2_RNA	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	477	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGGCTGGCTGAGTCCTCCTC	0.622		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.000602	0	5	12				
ANPEP	290	broad.mit.edu	37	15	90348336	90348336	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:90348336C>T	uc002bop.3	-	4	1162	c.870G>A	c.(868-870)GTG>GTA	p.V290V		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	290	Extracellular.|Interaction with HCoV-229E.|Metalloprotease.			DYVEKQAS->QSVEETAQ: No change in receptor activity and HCoV-229E infection.|DYVEKQAS->QSVNETAQ: Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity.|DYVEKQAS->QSVNEQAQ: No change in receptor activity and HCoV-229E infection.	angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCTGCTTCTCCACGTAGTCGA	0.562		NaN											0	0	0	0.01441	0	45	105				
ANPEP	290	broad.mit.edu	37	15	90348636	90348636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:90348636C>G	uc002bop.3	-	3	965	c.673G>C	c.(673-675)GAT>CAT	p.D225H		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	225	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCCGGCTCATCGAAGCATGGG	0.607		NaN											0	0	0	0.00632	0	24	34				
IQGAP1	8826	broad.mit.edu	37	15	91020904	91020904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91020904G>A	uc002bpl.1	+	26	3213	c.3112G>A	c.(3112-3114)GTA>ATA	p.V1038I		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1038	Ras-GAP.|C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAGGTCGAAGGTAGATCAGAT	0.393		NaN											0	0	0	0.003163	0	15	68				
IQGAP1	8826	broad.mit.edu	37	15	91020921	91020921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91020921G>C	uc002bpl.1	+	26	3230	c.3129G>C	c.(3127-3129)GAG>GAC	p.E1043D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1043	Ras-GAP.|C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGATTCAAGAGATTGTGACAG	0.413		NaN											0	0	0	0.010504	0	20	72				
SV2B	9899	broad.mit.edu	37	15	91835762	91835762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:91835762C>G	uc002bqv.2	+	12	2423	c.2032C>G	c.(2032-2034)CGA>GGA	p.R678G	SV2B_uc010uqv.1_Missense_Mutation_p.R527G|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	678	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCCAGAGACTCGAGAACAGGT	0.512		NaN											0	0	0	0.012319	0	18	105				
CHD2	1106	broad.mit.edu	37	15	93558002	93558002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr15:93558002C>G	uc002bsp.2	+	37	5344	c.4769C>G	c.(4768-4770)TCT>TGT	p.S1590C	CHD2_uc002bso.1_Missense_Mutation_p.S1590C	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1590					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCCGGGACTCTCTGATATCT	0.512		NaN											0	0	0	0.01441	0	57	102				
PIGQ	9091	broad.mit.edu	37	16	624461	624461	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:624461C>T	uc002cho.2	+	2	489	c.387C>T	c.(385-387)ATC>ATT	p.I129I	PIGQ_uc010bqw.2_Silent_p.I129I|PIGQ_uc002chm.2_Silent_p.I129I|PIGQ_uc002chn.2_Silent_p.I129I|PIGQ_uc010uui.1_Silent_p.I143I	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	129					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				TCATGCTCATCTTCTATGACC	0.692		NaN											0	0	0	0.00308	0	6	12				
FAM195A	84331	broad.mit.edu	37	16	697532	697532	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:697532T>A	uc002cic.1	+	3	441	c.298T>A	c.(298-300)TTT>ATT	p.F100I	FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Silent_p.A28A|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank	NM_138418	NP_612427	Q9BUT9	F195A_HUMAN	hypothetical protein LOC84331	100											0						GAATGTCCGCTTTGTGTCCGA	0.637		NaN											0	0	0	0.006214	0	7	23				
MSLN	10232	broad.mit.edu	37	16	814666	814666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:814666G>A	uc002cjw.1	+	6	371	c.320G>A	c.(319-321)CGG>CAG	p.R107Q	MSLN_uc002cjt.1_Missense_Mutation_p.R107Q|MSLN_uc002cju.1_Missense_Mutation_p.R107Q|MSLN_uc010brd.1_Missense_Mutation_p.R106Q|MSLN_uc002cjv.1_Missense_Mutation_p.R107Q|MSLN_uc002cjx.1_Missense_Mutation_p.R107Q|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	107					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				CTGGCTCACCGGCTCTCTGAG	0.682		NaN											0	0	0	0.01441	0	53	127				
CORO7	79585	broad.mit.edu	37	16	4390379	4390379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:4390379C>T	uc002cwf.2	-	31	3531	c.3088G>A	c.(3088-3090)GAG>AAG	p.E1030K	CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.E107K	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	Error:Variant_position_missing_in_P57737_after_alignment						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TTGAGTTCCTCATCCAGGCGC	0.622		NaN											0	0	0	0.004656	0	23	41				
ZKSCAN2	342357	broad.mit.edu	37	16	25251339	25251339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:25251339C>G	uc002dod.3	-	7	3109	c.2702G>C	c.(2701-2703)AGA>ACA	p.R901T	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R697T	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	901	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCGAAATCTCGTACAGTT	0.458		NaN											0	0	0	0.003163	0	13	29				
APOB48R	55911	broad.mit.edu	37	16	28508751	28508751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:28508751G>A	uc002dqb.1	+	3	2372	c.2362G>A	c.(2362-2364)GAG>AAG	p.E788K	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E326K	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	788	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						AGAAAAGGAAGAGGCAGCAGC	0.572		NaN											0	0	0	0.001984	0	6	10				
ITGAX	3687	broad.mit.edu	37	16	31391116	31391116	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:31391116C>T	uc002ebu.1	+	25	2974	c.2907C>T	c.(2905-2907)ATC>ATT	p.I969I	ITGAX_uc002ebt.2_Silent_p.I969I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	969	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTGTCAGCATCAACTTCTGGG	0.617		NaN											0	0	0	0.010729	0	8	24				
CMTM2	146225	broad.mit.edu	37	16	66620940	66620940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:66620940G>A	uc002ept.2	+	3	645	c.485G>A	c.(484-486)GGA>GAA	p.G162E	CMTM2_uc010cdu.2_Missense_Mutation_p.G109E	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	162	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTCCTTGTGGGAGCCGTGGTC	0.522		NaN											0	0	0	0.00499	0	14	87				
EXOC3L	283849	broad.mit.edu	37	16	67218811	67218811	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67218811G>A	uc002erx.1	-	12	2140	c.1899C>T	c.(1897-1899)CTC>CTT	p.L633L	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.L284L|EXOC3L_uc002ery.1_Silent_p.L535L|EXOC3L_uc010vje.1_Silent_p.L530L	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	633					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TCACCAAACTGAGGAAAAGCT	0.687		NaN											0	0	0	0.004672	0	3	22				
AGRP	181	broad.mit.edu	37	16	67517183	67517183	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67517183G>C	uc002etg.1	-	2	419	c.119C>G	c.(118-120)CCA>CGA	p.P40R	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	40					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TGGGAGCTCTGGGAGCAGGGC	0.637		NaN											0	0	0	0.004672	0	3	4				
THAP11	57215	broad.mit.edu	37	16	67876898	67876898	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67876898G>T	uc002euo.2	+	1	686	c.441G>T	c.(439-441)CCG>CCT	p.P147P	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		AGCTGCAGCCGAACCTGGTAT	0.468		NaN											1	0	2.56175e-15	0.01441	2.83935e-15	35	182				
EDC4	23644	broad.mit.edu	37	16	67917616	67917616	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:67917616G>C	uc002eur.2	+	28	4161	c.3995G>C	c.(3994-3996)CGA>CCA	p.R1332P	EDC4_uc010cer.2_Missense_Mutation_p.R951P|EDC4_uc002eus.2_Missense_Mutation_p.R1062P|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1332					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTGGCACTCGAACTGACCTC	0.617		NaN									OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	42	220				
SLC7A6	9057	broad.mit.edu	37	16	68308901	68308901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:68308901C>G	uc002evt.1	+	4	581	c.272C>G	c.(271-273)TCT>TGT	p.S91C	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S91C|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	91	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GGGCTCTTCTCTGTTGTGGGT	0.547		NaN											0	0	0	0.010771	0	33	48				
HYDIN	54768	broad.mit.edu	37	16	71008159	71008159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:71008159C>G	uc002ezr.2	-	33	5079	c.4951G>C	c.(4951-4953)GAA>CAA	p.E1651Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1652										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ATTTCCGTTTCACAATGAGGT	0.428		NaN											0	0	0	0.000602	0	4	20				
GLG1	2734	broad.mit.edu	37	16	74511362	74511362	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:74511362G>C	uc002fcy.3	-	12	1947	c.1897C>G	c.(1897-1899)CCT>GCT	p.P633A	GLG1_uc002fcx.2_Missense_Mutation_p.P633A|GLG1_uc002fcw.3_Missense_Mutation_p.P622A|GLG1_uc002fcz.3_Missense_Mutation_p.P50A	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	633	Cys-rich GLG1 9.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						TGGAGGGCAGGATCCAGCTTG	0.483		NaN											0	0	0	0.01441	0	84	58				
RFWD3	55159	broad.mit.edu	37	16	74685877	74685877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:74685877G>A	uc002fda.2	-	3	760	c.662C>T	c.(661-663)TCT>TTT	p.S221F	RFWD3_uc010cgq.2_Missense_Mutation_p.S221F	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	221				S -> P (in Ref. 1; BAF83889).	DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						ATACTCTGCAGAGCTGTCACT	0.468		NaN											0	0	0	0.01441	0	82	53				
ADAT1	23536	broad.mit.edu	37	16	75642774	75642774	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:75642774C>G	uc002feo.1	-	8	1258	c.1156G>C	c.(1156-1158)GAT>CAT	p.D386H	ADAT1_uc002fep.1_Missense_Mutation_p.D237H	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	386	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						CCTGGGCTATCAGCCCTTTTT	0.512		NaN											0	0	0	0.005443	0	23	57				
TERF2IP	54386	broad.mit.edu	37	16	75681873	75681873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:75681873C>G	uc002fet.1	+	1	190	c.93C>G	c.(91-93)TTC>TTG	p.F31L	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	31					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						CCATGTCCTTCTACGTGCGGC	0.682		NaN											0	0	0	0.001855	0	12	52				
MLYCD	23417	broad.mit.edu	37	16	83948929	83948929	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:83948929G>T	uc002fgz.2	+	5	1337	c.1317G>T	c.(1315-1317)GTG>GTT	p.V439V		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	439					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						TGGCGGATGTGAGCCTCAGAG	0.637		NaN											1	0	1.799e-87	0.01441	2.11455e-87	121	71				
FOXC2	2303	broad.mit.edu	37	16	86601504	86601504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:86601504C>T	uc002fjq.2	+	1	648	c.563C>T	c.(562-564)CCG>CTG	p.P188L		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	188					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						GAGCCGCCCCCGGCGGCGTCC	0.701		NaN							Late-onset_Hereditary_Lymphedema				0	0	0	0.008291	0	7	18				
SPATA2L	124044	broad.mit.edu	37	16	89763774	89763774	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:89763774G>C	uc002foj.2	-	3	1308	c.1243C>G	c.(1243-1245)CTG>GTG	p.L415V	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	415											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TTGTAGAGCAGAGTGTCCATC	0.687		NaN											0	0	0	0.009096	0	4	14				
FANCA	2175	broad.mit.edu	37	16	89807249	89807249	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr16:89807249G>T	uc002fou.1	-	38	3833	c.3791C>A	c.(3790-3792)TCC>TAC	p.S1264Y	ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.S1264Y|FANCA_uc010vpo.1_Missense_Mutation_p.S350Y	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1264					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCCCATCAAGGAGAAGAAGAA	0.453		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	1.2644e-06	0.010504	1.32581e-06	18	22				
ZZEF1	23140	broad.mit.edu	37	17	3984727	3984727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:3984727C>T	uc002fxe.2	-	18	2836	c.2772G>A	c.(2770-2772)ATG>ATA	p.M924I	ZZEF1_uc002fxk.1_Missense_Mutation_p.M925I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	924							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACTGATGTTCATCTTGGCCA	0.498		NaN											0	0	0	0.01441	0	44	50				
ZZEF1	23140	broad.mit.edu	37	17	4045961	4045961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:4045961G>A	uc002fxe.2	-	1	293	c.229C>T	c.(229-231)CGC>TGC	p.R77C	ZZEF1_uc002fxk.1_Missense_Mutation_p.R77C|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	77							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AACGCGCCGCGATGCCTCGAC	0.721		NaN											0	0	0	0.008291	0	8	11				
USP6	9098	broad.mit.edu	37	17	5041507	5041507	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:5041507C>T	uc002gau.1	+	21	3247	c.1017C>T	c.(1015-1017)CTC>CTT	p.L339L	USP6_uc002gav.1_Silent_p.L339L|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	339					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						ACACCGTGCTCAAGCATCTTA	0.577		NaN	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								0	0	0	0.010818	0	30	93				
PITPNM3	83394	broad.mit.edu	37	17	6374547	6374547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:6374547C>A	uc002gdd.3	-	12	1709	c.1558G>T	c.(1558-1560)GAG>TAG	p.E520*	PITPNM3_uc010cln.2_Nonsense_Mutation_p.E484*|PITPNM3_uc010clm.2_Nonsense_Mutation_p.E3*|PITPNM3_uc002gdc.3_Nonsense_Mutation_p.E111*	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	520	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGCTCCCCTCGCTCATCCTC	0.687		NaN											1	0	0.00448238	0.004482	0.00460075	7	18				
ASGR2	433	broad.mit.edu	37	17	7010563	7010563	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:7010563G>A	uc002gep.3	-	6	763	c.498C>T	c.(496-498)CTC>CTT	p.L166L	ASGR2_uc010vtk.1_Silent_p.L3L|ASGR2_uc002gem.1_Silent_p.L105L|ASGR2_uc002gen.1_Silent_p.L147L|ASGR2_uc002geo.1_Silent_p.L161L|ASGR2_uc002ger.3_Silent_p.L166L|ASGR2_uc002geq.3_Silent_p.L142L	NM_001181	NP_001172	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	166	Extracellular (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)	TGCTGTGGAGGAGCTCCATCT	0.642		NaN											0	0	0	0.010729	0	10	14				
MYH3	4621	broad.mit.edu	37	17	10539066	10539067	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:10539066_10539067CC>TT	uc002gmq.1	-	28	4037_4038	c.3960_3961GG>AA	c.(3958-3963)CTGGAG>CTAAAG	p.E1321K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1321	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTCTTCCTCCAGCTGCCTCT	0.426		NaN											0	0	0	0.004672	0	52	77				
PIP4K2B	8396	broad.mit.edu	37	17	36935741	36935741	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:36935741G>C	uc002hqs.2	-	5	1030	c.549C>G	c.(547-549)TTC>TTG	p.F183L	PIP4K2B_uc010wdt.1_Missense_Mutation_p.F183L|PIP4K2B_uc010wdu.1_Missense_Mutation_p.F119L	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	183	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ACATGCCCAGGAACTGTGGCA	0.522		NaN											0	0	0	0.00499	0	17	42				
MED24	9862	broad.mit.edu	37	17	38192035	38192035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38192035G>A	uc002htt.2	-	5	579	c.266C>T	c.(265-267)TCT>TTT	p.S89F	MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.S114F|MED24_uc002htu.2_Missense_Mutation_p.S76F|MED24_uc010cwn.2_Missense_Mutation_p.S76F|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Missense_Mutation_p.S39F|MED24_uc010wew.1_Missense_Mutation_p.S18F|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.S39F|MED24_uc010wfb.1_Missense_Mutation_p.S101F|MED24_uc010wfc.1_Missense_Mutation_p.S26F	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	89					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CAGGTCCCGAGAAAAGTCATC	0.532		NaN											0	0	0	0.004482	0	8	47				
NR1D1	9572	broad.mit.edu	37	17	38253600	38253600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38253600C>G	uc002htz.1	-	2	714	c.88G>C	c.(88-90)GAA>CAA	p.E30Q	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	30					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TAGAGGGATTCAGGGCTGGTG	0.587		NaN											0	0	0	0.010504	0	17	22				
CASC3	22794	broad.mit.edu	37	17	38297460	38297460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38297460G>T	uc010cwt.1	+	2	527	c.232G>T	c.(232-234)GAG>TAG	p.E78*	CASC3_uc010cws.1_Nonsense_Mutation_p.E78*|CASC3_uc002hue.2_Nonsense_Mutation_p.E78*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	78					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TTTCTTTCAGGAGAGTGAAGA	0.403		NaN											1	0	2.6465e-34	0.01441	3.09821e-34	59	86				
TOP2A	7153	broad.mit.edu	37	17	38569453	38569453	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:38569453G>C	uc002huq.2	-	6	696	c.570C>G	c.(568-570)TTC>TTG	p.F190L	TOP2A_uc002hur.1_5'Flank	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	190					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTGCCTGTTTGAACATTTTCT	0.328		NaN											0	0	0	0.004672	0	2	5				
KRT12	3859	broad.mit.edu	37	17	39017927	39017927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:39017927C>T	uc002hvk.2	-	8	1495	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	491	Tail.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				ATTAGTTCTTCAATTTCCTGA	0.373		NaN											0	0	0	0.003163	0	9	57				
KRT12	3859	broad.mit.edu	37	17	39017933	39017933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:39017933C>A	uc002hvk.2	-	8	1489	c.1465G>T	c.(1465-1467)GAA>TAA	p.E489*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	489	Tail.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TCTTCAATTTCCTGAACTTGA	0.368		NaN											1	0	6.31663e-08	0.003163	6.67136e-08	11	65				
FAM134C	162427	broad.mit.edu	37	17	40733844	40733844	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:40733844G>C	uc002ial.2	-	9	1491	c.1388C>G	c.(1387-1389)TCT>TGT	p.S463C	FAM134C_uc010wgq.1_Missense_Mutation_p.S263C|FAM134C_uc002iam.1_Missense_Mutation_p.S263C|FAM134C_uc010cyk.1_Missense_Mutation_p.S366C	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	463						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GTGGCTCCTAGAACTGGCAGG	0.547		NaN											0	0	0	0.007413	0	16	34				
ADAM11	4185	broad.mit.edu	37	17	42849819	42849819	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:42849819G>C	uc002ihh.2	+	8	663	c.663G>C	c.(661-663)CTG>CTC	p.L221L	ADAM11_uc010wjd.1_Missense_Mutation_p.E23Q	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	221					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GGCCGAGGCTGAGAAGGAAAA	0.706		NaN											0	0	0	0.004672	0	3	7				
PLEKHM1	9842	broad.mit.edu	37	17	43522898	43522898	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:43522898C>G	uc002ija.2	-	9	2945	c.2775G>C	c.(2773-2775)CTG>CTC	p.L925L	PLEKHM1_uc010wjm.1_Silent_p.L897L|PLEKHM1_uc002ijb.2_Silent_p.L400L|PLEKHM1_uc010wjn.1_Silent_p.L874L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	925					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CCAGGAGCTTCAGCTGCTCCC	0.592		NaN											0	0	0	0.006122	0	17	57				
MYCBPAP	84073	broad.mit.edu	37	17	48604701	48604701	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:48604701C>T	uc010wmr.1	+	15	2514	c.2352C>T	c.(2350-2352)CTC>CTT	p.L784L	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	747					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGATGAGGCTCAACAAAGCAG	0.592		NaN											0	0	0	0.010504	0	20	119				
CACNA1G	8913	broad.mit.edu	37	17	48655779	48655779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:48655779G>C	uc002irk.1	+	9	2527	c.2155G>C	c.(2155-2157)GAT>CAT	p.D719H	CACNA1G_uc002iri.1_Missense_Mutation_p.D719H|CACNA1G_uc002irj.1_Missense_Mutation_p.D719H|CACNA1G_uc002irl.1_Missense_Mutation_p.D719H|CACNA1G_uc002irm.1_Missense_Mutation_p.D719H|CACNA1G_uc002irn.1_Missense_Mutation_p.D719H|CACNA1G_uc002iro.1_Missense_Mutation_p.D719H|CACNA1G_uc002irp.1_Missense_Mutation_p.D719H|CACNA1G_uc002irq.1_Missense_Mutation_p.D719H|CACNA1G_uc002irr.1_Missense_Mutation_p.D719H|CACNA1G_uc002irs.1_Missense_Mutation_p.D719H|CACNA1G_uc002irt.1_Missense_Mutation_p.D719H|CACNA1G_uc002irv.1_Missense_Mutation_p.D719H|CACNA1G_uc002irw.1_Missense_Mutation_p.D719H|CACNA1G_uc002iru.1_Missense_Mutation_p.D719H|CACNA1G_uc002irx.1_Missense_Mutation_p.D632H|CACNA1G_uc002iry.1_Missense_Mutation_p.D632H|CACNA1G_uc002irz.1_Missense_Mutation_p.D632H|CACNA1G_uc002isa.1_Missense_Mutation_p.D632H|CACNA1G_uc002isb.1_Missense_Mutation_p.D632H|CACNA1G_uc002isc.1_Missense_Mutation_p.D632H|CACNA1G_uc002isd.1_Missense_Mutation_p.D632H|CACNA1G_uc002ise.1_Missense_Mutation_p.D632H|CACNA1G_uc002isf.1_Missense_Mutation_p.D632H|CACNA1G_uc002isg.1_Missense_Mutation_p.D632H|CACNA1G_uc002ish.1_Missense_Mutation_p.D632H|CACNA1G_uc002isi.1_Missense_Mutation_p.D632H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	719	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGGCCCAGATGCAGAGCC	0.602		NaN											0	0	0	0.004007	0	17	61				
HEATR6	63897	broad.mit.edu	37	17	58123500	58123500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:58123500C>G	uc002iyk.1	-	19	2877	c.2860G>C	c.(2860-2862)GAG>CAG	p.E954Q	HEATR6_uc010ddk.1_Missense_Mutation_p.E493Q|HEATR6_uc010wos.1_Missense_Mutation_p.E674Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	954							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATAGACTCCTCAATGATTTCT	0.393		NaN											0	0	0	0.008361	0	25	62				
HEATR6	63897	broad.mit.edu	37	17	58156241	58156241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:58156241G>A	uc002iyk.1	-	1	52	c.35C>T	c.(34-36)TCC>TTC	p.S12F		NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	12							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGGCTGCACGGAAGGCCACGA	0.652		NaN											0	0	0	0.000602	0	4	26				
GH1	2688	broad.mit.edu	37	17	61994708	61994708	+	Silent	SNP	G	G	A	rs148474991		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:61994708G>A	uc002jdj.2	-	5	677	c.615C>T	c.(613-615)ATC>ATT	p.I205I	GH1_uc002jdi.2_Silent_p.I190I|GH1_uc002jdk.2_Silent_p.I165I|GH1_uc002jdl.2_Silent_p.I110I|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S159L	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	205			I -> M (in short stature; idiopathic autosomal).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						GGCACTGCACGATGCGCAGGA	0.592		NaN											0	0	0	0.008361	0	25	61				
LRRC37A3	374819	broad.mit.edu	37	17	62854903	62854903	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:62854903G>C	uc002jey.2	-	12	5334	c.4803C>G	c.(4801-4803)CTC>CTG	p.L1601L	LRRC37A3_uc010wqg.1_Silent_p.L719L|LRRC37A3_uc002jex.1_Silent_p.L578L|LRRC37A3_uc010wqf.1_Silent_p.L639L	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601	Helical; (Potential).					integral to membrane					0						TTACCTCAATGAGGCAGAGAA	0.383		NaN											0	0	0	0.007413	0	20	57				
ABCA6	23460	broad.mit.edu	37	17	67132242	67132242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:67132242C>G	uc002jhw.1	-	4	626	c.451G>C	c.(451-453)GAT>CAT	p.D151H	ABCA6_uc002jhy.2_Missense_Mutation_p.D149H	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	151					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CCTGAGAAATCTTCTTTCCAA	0.323		NaN											0	0	0	0.001168	0	5	31				
CD300LF	146722	broad.mit.edu	37	17	72699199	72699199	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:72699199G>C	uc002jlg.2	-	3	524	c.421C>G	c.(421-423)CTG>GTG	p.L141V	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L144V|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.L141V|CD300LF_uc002jli.2_Missense_Mutation_p.L144V|CD300LF_uc010wra.1_Missense_Mutation_p.L156V|CD300LF_uc002jlj.1_Missense_Mutation_p.L159V	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	141	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						TGGCCGGTCAGAGTTGGGGAG	0.547		NaN											0	0	0	0.001855	0	11	104				
CDK3	1018	broad.mit.edu	37	17	73998125	73998125	+	Missense_Mutation	SNP	G	G	C	rs140567861		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:73998125G>C	uc010dgt.2	+	4	293	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	CDK3_uc002jqg.3_Missense_Mutation_p.E101Q	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	73	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GGTGCACAACGAGAGGAAGCT	0.572		NaN											0	0	0	0.006122	0	14	68				
C17orf70	80233	broad.mit.edu	37	17	79517599	79517599	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:79517599C>T	uc002kaq.2	-	3	976	c.921G>A	c.(919-921)GTG>GTA	p.V307V	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.V156V	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	307					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTCACAGTGCACATCCTCGT	0.607		NaN											0	0	0	0.004007	0	12	74				
CD7	924	broad.mit.edu	37	17	80274738	80274738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr17:80274738C>G	uc002kel.1	-	2	311	c.202G>C	c.(202-204)GAC>CAC	p.D68H	CD7_uc010din.2_Missense_Mutation_p.D68H|CD7_uc002kem.2_Missense_Mutation_p.R49T|CD7_uc010wvk.1_Missense_Mutation_p.D68H	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	68	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TAAATGATGTCTTGGGGCTGT	0.632		NaN											0	0	0	0.00632	0	24	55				
SLC14A2	8170	broad.mit.edu	37	18	43206949	43206949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43206949G>C	uc010dnj.2	+	5	679	c.358G>C	c.(358-360)GAC>CAC	p.D120H	SLC14A2_uc002lbb.2_Missense_Mutation_p.D120H|SLC14A2_uc002lbe.2_Missense_Mutation_p.D120H	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	120						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CCAGTTCATAGACTGGGTCCT	0.557		NaN											0	0	0	0.012319	0	18	78				
SLC14A2	8170	broad.mit.edu	37	18	43216988	43216988	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43216988C>T	uc010dnj.2	+	7	1005	c.684C>T	c.(682-684)TTC>TTT	p.F228F	SLC14A2_uc002lbb.2_Silent_p.F228F|SLC14A2_uc002lbe.2_Silent_p.F228F	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	228						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						ATTCCATCTTCAGCAAGTGGG	0.512		NaN											0	0	0	0.01441	0	107	236				
C18orf25	147339	broad.mit.edu	37	18	43842948	43842948	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:43842948C>T	uc002lbw.2	+	6	1461	c.1082C>T	c.(1081-1083)TCG>TTG	p.S361L	C18orf25_uc002lbx.2_Missense_Mutation_p.S300L	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	360										central_nervous_system(2)	2						AAGCATGGCTCGGGCACGCAG	0.493		NaN											0	0	0	0.005443	0	19	113				
ATP8B1	5205	broad.mit.edu	37	18	55351301	55351301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:55351301C>G	uc002lgw.2	-	14	1597	c.1597G>C	c.(1597-1599)GTT>CTT	p.V533L	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	533	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GTGTGGCAAACTGCGAGCAAG	0.448		NaN							Byler_disease				0	0	0	0.006122	0	13	69				
ATP8B1	5205	broad.mit.edu	37	18	55351394	55351394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:55351394C>T	uc002lgw.2	-	14	1504	c.1504G>A	c.(1504-1506)GAT>AAT	p.D502N	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	502	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				AGCTTCCCATCAGCATATGTA	0.348		NaN							Byler_disease				0	0	0	0.008291	0	9	33				
MC4R	4160	broad.mit.edu	37	18	58038833	58038833	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr18:58038833C>T	uc002lie.1	-	1	1169	c.750G>A	c.(748-750)CTG>CTA	p.L250L		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	250	Helical; Name=6; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AGACGCCAATCAGGATGGTCA	0.498		NaN											0	0	0	0.005443	0	23	29				
ZNF555	148254	broad.mit.edu	37	19	2852858	2852858	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:2852858C>A	uc002lwo.2	+	4	884	c.795C>A	c.(793-795)TTC>TTA	p.F265L	ZNF555_uc002lwn.3_Missense_Mutation_p.F264L	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	265	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAGCTTTCAGTTATTCCT	0.408		NaN											1	0	9.70103e-10	0.008291	1.03774e-09	9	50				
PLIN3	10226	broad.mit.edu	37	19	4859922	4859922	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:4859922C>T	uc002mbj.2	-	3	358	c.181G>A	c.(181-183)GAC>AAC	p.D61N	PLIN3_uc002mbk.2_Missense_Mutation_p.D61N|PLIN3_uc002mbl.3_Missense_Mutation_p.D61N	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	61					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTGCTGCGTCGCAGACAGTC	0.637		NaN											0	0	0	0.000602	0	3	25				
GTF2F1	2962	broad.mit.edu	37	19	6392882	6392882	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:6392882G>A	uc002meq.2	-	2	330	c.45C>T	c.(43-45)GTC>GTT	p.V15V	GTF2F1_uc010xjc.1_5'Flank	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	15					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						GAACTCGAACGACGTATTCAG	0.587		NaN									OREG0025199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	44	186				
ANGPTL4	51129	broad.mit.edu	37	19	8436324	8436324	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:8436324C>G	uc002mjq.1	+	6	1152	c.957C>G	c.(955-957)CCC>CCG	p.P319P	ANGPTL4_uc002mjr.1_Silent_p.P281P|ANGPTL4_uc010xkc.1_Silent_p.P152P	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	319	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CCGTCCCACCCAGCGGCCTCT	0.667		NaN											0	0	0	0.001984	0	5	25				
MUC16	94025	broad.mit.edu	37	19	9062870	9062870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:9062870C>G	uc002mkp.2	-	3	24780	c.24576G>C	c.(24574-24576)ATG>ATC	p.M8192I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8194	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGATTCTGTCATTATGCTGG	0.483		NaN											0	0	0	0.013537	0	13	31				
DNMT1	1786	broad.mit.edu	37	19	10286275	10286275	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:10286275G>C	uc002mng.2	-	6	721	c.541C>G	c.(541-543)CAG>GAG	p.Q181E	DNMT1_uc010xlc.1_Missense_Mutation_p.Q197E|DNMT1_uc002mnh.2_Missense_Mutation_p.Q76E|DNMT1_uc010xld.1_Missense_Mutation_p.Q181E	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	181	Nuclear localization signal (Potential).|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GACTCTTCCTGAGGTTTCCGT	0.512		NaN											0	0	0	0.007291	0	23	53				
DNMT1	1786	broad.mit.edu	37	19	10287981	10287981	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:10287981G>C	uc002mng.2	-	5	688	c.508C>G	c.(508-510)CAT>GAT	p.H170D	DNMT1_uc010xlc.1_Missense_Mutation_p.H186D|DNMT1_uc002mnh.2_Missense_Mutation_p.H65D|DNMT1_uc010xld.1_Missense_Mutation_p.H170D|DNMT1_uc010dxb.1_RNA	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	170	Interaction with PCNA.|Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).			H->V: Abolishes interaction with PCNA.	chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGCAAAATGAGATGTGATG	0.438		NaN											0	0	0	0.006214	0	7	36				
NWD1	284434	broad.mit.edu	37	19	16860125	16860125	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:16860125C>G	uc002neu.3	+	6	1094	c.672C>G	c.(670-672)CTC>CTG	p.L224L	NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	224							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						AGAACCTTCTCAGCAGCCTCA	0.587		NaN											0	0	0	0.013537	0	12	64				
CILP2	148113	broad.mit.edu	37	19	19654990	19654990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:19654990G>A	uc002nmv.3	+	8	1721	c.1636G>A	c.(1636-1638)GGC>AGC	p.G546S	CILP2_uc002nmw.3_Missense_Mutation_p.G552S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	546						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TCGAGGTGCCGGCGTGTACCA	0.617		NaN											0	0	0	0.004672	0	3	71				
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:22155282T>C	uc002nqp.2	-	5	2403	c.2254A>G	c.(2254-2256)AAG>GAG	p.K752E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373		NaN											0	0	0	0.001168	0	3	83				
HAUS5	23354	broad.mit.edu	37	19	36108218	36108218	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:36108218G>T	uc002oam.1	+	8	636	c.585G>T	c.(583-585)CGG>CGT	p.R195R		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	195					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						GCACCCTCCGGGCCCAGTTCC	0.632		NaN											1	0	2.64894e-19	0.01441	3.01628e-19	35	52				
HCST	10870	broad.mit.edu	37	19	36394703	36394703	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:36394703C>G	uc002ocl.1	+	3	253	c.139C>G	c.(139-141)CTG>GTG	p.L47V	HCST_uc002ock.1_Missense_Mutation_p.L47V	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer isoform 1	47	Extracellular (Potential).				regulation of immune response	integral to membrane|plasma membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCTCTCTCTGCCGCTCCT	0.682		NaN											0	0	0	0.00308	0	5	32				
ZNF567	163081	broad.mit.edu	37	19	37211086	37211086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:37211086G>C	uc010xtl.1	+	6	1682	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T	ZNF567_uc002oeo.1_Missense_Mutation_p.R487T|ZNF567_uc010xtk.1_Missense_Mutation_p.R487T|ZNF567_uc002oep.3_Missense_Mutation_p.R456T|ZNF567_uc002oeq.1_Missense_Mutation_p.R456T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	487	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCCTTTAGAATGAAGTCA	0.418		NaN											0	0	0	0.005443	0	22	69				
SYMPK	8189	broad.mit.edu	37	19	46345718	46345718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:46345718G>A	uc002pdn.2	-	9	1122	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	SYMPK_uc002pdo.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdp.1_Nonsense_Mutation_p.Q293*|SYMPK_uc002pdq.1_Nonsense_Mutation_p.Q293*	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	293					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTGCTCACCTGCGATTTGGCC	0.562		NaN											0	0	0	0.010504	0	15	80				
IRF2BP1	26145	broad.mit.edu	37	19	46387865	46387865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:46387865C>T	uc002pds.1	-	1	1512	c.1168G>A	c.(1168-1170)GAG>AAG	p.E390K		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCAGCCGCCTCGCCCTCCGGC	0.751		NaN											0	0	0	0.006214	0	9	20				
NR1H2	7376	broad.mit.edu	37	19	50881884	50881884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:50881884C>A	uc010enw.2	+	7	857	c.581C>A	c.(580-582)TCA>TAA	p.S194*	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.S193*|NR1H2_uc002psa.3_Nonsense_Mutation_p.S96*	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	193	Poly-Ser.				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCAGCAGCTCAGCCTCTGGG	0.607		NaN											1	0	7.05477e-17	0.00499	7.86411e-17	16	17				
ZNF547	284306	broad.mit.edu	37	19	57888951	57888951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:57888951C>G	uc002qol.2	+	4	800	c.607C>G	c.(607-609)CAG>GAG	p.Q203E	ZNF547_uc002qpm.3_Missense_Mutation_p.Q129E|ZNF547_uc010ygx.1_Missense_Mutation_p.Q203E	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	203	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATAGACATCAGAGAACTCA	0.418		NaN											0	0	0	0.003271	0	28	39				
ZNF549	256051	broad.mit.edu	37	19	58048854	58048854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:58048854G>A	uc002qpb.1	+	4	731	c.482G>A	c.(481-483)AGA>AAA	p.R161K	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.R148K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACACATCAGAAAGGAGGAG	0.453		NaN											0	0	0	0.00278	0	22	50				
ZNF587	84914	broad.mit.edu	37	19	58367529	58367529	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:58367529C>T	uc002qql.2	+	2	229	c.91C>T	c.(91-93)CTT>TTT	p.L31F	ZNF587_uc002qqb.2_5'UTR|ZNF587_uc010yhh.1_5'UTR|ZNF587_uc002qqi.1_5'UTR|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.L30F	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGAGTGGTGTCTTCTTAGTGA	0.512		NaN											0	0	0	0.007291	0	17	67				
MYT1L	23040	broad.mit.edu	37	2	1914104	1914104	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:1914104C>G	uc002qxe.2	-	13	2552	c.1725G>C	c.(1723-1725)CCG>CCC	p.P575P	MYT1L_uc002qxd.2_Silent_p.P573P|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	575	C2HC-type 3.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGCAGCGATCGGGCATCCGG	0.587		NaN											0	0	0	0.00333	0	22	51				
TAF1B	9014	broad.mit.edu	37	2	10008450	10008450	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:10008450G>A	uc002qzz.2	+	6	545	c.445G>A	c.(445-447)GAG>AAG	p.E149K	TAF1B_uc010exc.2_Missense_Mutation_p.E149K|TAF1B_uc002qzy.3_Missense_Mutation_p.E149K|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	149					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGTGAGCCTGAGCTGCTAAG	0.398		NaN											0	0	0	0.005443	0	19	48				
GREB1	9687	broad.mit.edu	37	2	11728988	11728988	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:11728988G>A	uc002rbk.1	+	10	1576	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T	GREB1_uc002rbn.1_Missense_Mutation_p.A426T|GREB1_uc002rbo.1_Missense_Mutation_p.A60T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	426						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAGTACGGCGCCTCTGCCAT	0.597		NaN											0	0	0	0.01441	0	57	111				
KIF3C	3797	broad.mit.edu	37	2	26204353	26204353	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:26204353T>C	uc002rgu.2	-	1	1091	c.434A>G	c.(433-435)TAT>TGT	p.Y145C	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.Y145C	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	145	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCTCCAAATAGGAGGCCCG	0.582		NaN											0	0	0	0.004289	0	31	71				
KIF3C	3797	broad.mit.edu	37	2	26204403	26204403	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:26204403G>T	uc002rgu.2	-	1	1041	c.384C>A	c.(382-384)TTC>TTA	p.F128L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.F128L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	128	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATGTGGGTGAAGATGTGCT	0.602		NaN											1	0	4.75821e-42	0.01441	5.58157e-42	44	91				
NLRC4	58484	broad.mit.edu	37	2	32461380	32461380	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:32461380C>A	uc002roi.2	-	7	2796	c.2550G>T	c.(2548-2550)CTG>CTT	p.L850L	NLRC4_uc002roj.1_Silent_p.L850L|NLRC4_uc010ezt.1_Silent_p.L185L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	850	LRR 9.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAAGAATGCTCAGTTTGACCA	0.303		NaN											1	0	7.87624e-14	0.00278	8.5829e-14	20	40				
PLEKHH2	130271	broad.mit.edu	37	2	43919692	43919692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:43919692C>T	uc010yny.1	+	4	309	c.226C>T	c.(226-228)CAA>TAA	p.Q76*	PLEKHH2_uc002rte.3_Nonsense_Mutation_p.Q76*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.Q76*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	76	Potential.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTAATATTCAAACCAGTGA	0.308		NaN											0	0	0	0.012319	0	18	109				
SRBD1	55133	broad.mit.edu	37	2	45801777	45801777	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:45801777G>A	uc002rus.2	-	8	1234	c.1158C>T	c.(1156-1158)TTC>TTT	p.F386F		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	386					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCCGAATGAAGTCAAGCG	0.388		NaN											0	0	0	0.01441	0	40	82				
PSME4	23198	broad.mit.edu	37	2	54122166	54122166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:54122166C>T	uc002rxp.2	-	34	3946	c.3890G>A	c.(3889-3891)AGA>AAA	p.R1297K	PSME4_uc010yop.1_Missense_Mutation_p.R1183K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.R672K|PSME4_uc010fbv.1_Missense_Mutation_p.R441K	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTCCCTGCTTCTGCCAAGCTT	0.388		NaN											0	0	0	0.01441	0	45	127				
CCDC88A	55704	broad.mit.edu	37	2	55615938	55615938	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:55615938C>T	uc002ryv.2	-	3	1091	c.249G>A	c.(247-249)GTG>GTA	p.V83V	CCDC88A_uc010yoz.1_Silent_p.V83V|CCDC88A_uc010ypa.1_Silent_p.V83V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	83					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTATCTGTCTCACCAAAATGG	0.264		NaN											0	0	0	0.003271	0	30	70				
UGP2	7360	broad.mit.edu	37	2	64083559	64083559	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:64083559G>C	uc002scm.2	+	2	445	c.139G>C	c.(139-141)GAA>CAA	p.E47Q	UGP2_uc002scl.2_Missense_Mutation_p.E36Q|UGP2_uc010ypx.1_Missense_Mutation_p.E56Q	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	47					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						ATCATCACATGAATTTGAGGT	0.458		NaN											0	0	0	0.013114	0	34	217				
MEIS1	4211	broad.mit.edu	37	2	66795861	66795861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:66795861C>T	uc002sdu.2	+	11	1544	c.1087C>T	c.(1087-1089)CAG>TAG	p.Q363*	MEIS1_uc002sdt.2_Nonsense_Mutation_p.Q363*|MEIS1_uc002sdv.2_Nonsense_Mutation_p.Q361*|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Nonsense_Mutation_p.Q298*|MEIS1_uc002sdw.1_Nonsense_Mutation_p.Q219*	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	363	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity				0						AATGGACGGTCAGCAACATAT	0.408		NaN											0	0	0	0.01441	0	98	255				
ASPRV1	151516	broad.mit.edu	37	2	70188237	70188237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188237C>T	uc002sfz.3	-	1	1161	c.584G>A	c.(583-585)GGC>GAC	p.G195D		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	195	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						GAGATAGTAGCCCTTACCCAT	0.602		NaN											0	0	0	0.003755	0	26	48				
ASPRV1	151516	broad.mit.edu	37	2	70188460	70188460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188460C>G	uc002sfz.3	-	1	938	c.361G>C	c.(361-363)GAA>CAA	p.E121Q		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	121	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						TTGATGACTTCAAAGCTGTGC	0.562		NaN											0	0	0	0.003163	0	13	54				
ASPRV1	151516	broad.mit.edu	37	2	70188511	70188511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:70188511C>G	uc002sfz.3	-	1	887	c.310G>C	c.(310-312)GAA>CAA	p.E104Q		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	104	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						TCAAAAGGTTCCGGGACGAAG	0.582		NaN											0	0	0	0.003954	0	22	66				
ATP6V1B1	525	broad.mit.edu	37	2	71188791	71188791	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:71188791C>T	uc002shj.2	+	8	840	c.753C>T	c.(751-753)GTC>GTT	p.V251V	ATP6V1B1_uc002shi.1_Silent_p.V251V|ATP6V1B1_uc010fdv.2_Silent_p.V251V|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.V209V	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	251					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						TGGGGAACGTCTGCCTCTTCC	0.567		NaN											0	0	0	0.007835	0	32	64				
CAPG	822	broad.mit.edu	37	2	85622017	85622017	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85622017C>T	uc002spl.1	-	10	1296	c.1046G>A	c.(1045-1047)TGA>TAA	p.*349*	CAPG_uc002spm.1_Silent_p.*334*|CAPG_uc010ysq.1_Silent_p.*349*|CAPG_uc010fgi.1_Silent_p.*349*	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	349					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						CGCCCACCCTCATTTCCAGTC	0.592		NaN											0	0	0	0.012319	0	17	48				
CAPG	822	broad.mit.edu	37	2	85622055	85622055	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85622055C>A	uc002spl.1	-	10	1258	c.1008G>T	c.(1006-1008)GAG>GAT	p.E336D	CAPG_uc002spm.1_Missense_Mutation_p.E321D|CAPG_uc010ysq.1_Missense_Mutation_p.E336D|CAPG_uc010fgi.1_Missense_Mutation_p.E336D	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	336					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						AGATGGGACTCTCATGGCCCT	0.597		NaN											1	0	0.000132079	0.008871	0.000136528	14	46				
CAPG	822	broad.mit.edu	37	2	85625194	85625194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625194C>T	uc002spl.1	-	8	1091	c.841G>A	c.(841-843)GAC>AAC	p.D281N	CAPG_uc002spm.1_Missense_Mutation_p.D266N|CAPG_uc010ysq.1_Missense_Mutation_p.D281N|CAPG_uc010fgi.1_Missense_Mutation_p.D281N|CAPG_uc010fgj.1_Missense_Mutation_p.D175N	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	281	Gelsolin-like 3.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						ACAAAGCAGTCATCAGATATC	0.547		NaN											0	0	0	0.01441	0	23	129				
CAPG	822	broad.mit.edu	37	2	85625197	85625197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625197C>T	uc002spl.1	-	8	1088	c.838G>A	c.(838-840)GAT>AAT	p.D280N	CAPG_uc002spm.1_Missense_Mutation_p.D265N|CAPG_uc010ysq.1_Missense_Mutation_p.D280N|CAPG_uc010fgi.1_Missense_Mutation_p.D280N|CAPG_uc010fgj.1_Missense_Mutation_p.D174N	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	280	Gelsolin-like 3.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						AAGCAGTCATCAGATATCAGC	0.547		NaN											0	0	0	0.01441	0	19	133				
CAPG	822	broad.mit.edu	37	2	85625233	85625233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:85625233C>T	uc002spl.1	-	8	1052	c.802G>A	c.(802-804)GAC>AAC	p.D268N	CAPG_uc002spm.1_Missense_Mutation_p.D253N|CAPG_uc010ysq.1_Missense_Mutation_p.D268N|CAPG_uc010fgi.1_Missense_Mutation_p.D268N|CAPG_uc010fgj.1_Missense_Mutation_p.D162N	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	268	Gelsolin-like 3.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						GGGCTGGAGTCAGCCACCTTG	0.567		NaN											0	0	0	0.01441	0	22	101				
CD8A	925	broad.mit.edu	37	2	87017470	87017470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:87017470G>T	uc002srt.2	-	2	1273	c.384C>A	c.(382-384)TTC>TTA	p.F128L	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.F128L|CD8A_uc010ytn.1_Missense_Mutation_p.F169L|CD8A_uc002sru.2_Missense_Mutation_p.F128L	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	128	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						AGACCGGCACGAAGTGGCTGA	0.627		NaN											1	0	3.99451e-17	0.009535	4.46986e-17	26	59				
TMEM131	23505	broad.mit.edu	37	2	98409038	98409038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:98409038C>T	uc002syh.3	-	31	4184	c.3955G>A	c.(3955-3957)GAA>AAA	p.E1319K		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1319	Pro-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						GACAGCCTTTCAGGCTGCGGC	0.677		NaN											0	0	0	0.00308	0	7	20				
EIF5B	9669	broad.mit.edu	37	2	100006265	100006265	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100006265G>A	uc002tab.2	+	15	2540	c.2356G>A	c.(2356-2358)GAA>AAA	p.E786K		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	786					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TACAAAAGATGAATTTGAGGA	0.353		NaN											0	0	0	0.006999	0	31	53				
EIF5B	9669	broad.mit.edu	37	2	100006708	100006708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100006708G>C	uc002tab.2	+	16	2614	c.2430G>C	c.(2428-2430)GAG>GAC	p.E810D		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	810					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TGTTTTATGAGAATAAAGATC	0.428		NaN											0	0	0	0.01441	0	70	178				
EIF5B	9669	broad.mit.edu	37	2	100007070	100007070	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:100007070G>C	uc002tab.2	+	17	2834	c.2650G>C	c.(2650-2652)GAA>CAA	p.E884Q		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	884					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GCGTTTGAAGGAAGGAGATAC	0.448		NaN											0	0	0	0.007835	0	33	105				
SLC9A2	6549	broad.mit.edu	37	2	103322367	103322367	+	Silent	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:103322367A>G	uc002tca.2	+	11	2182	c.2040A>G	c.(2038-2040)CTA>CTG	p.L680L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	680	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CAGAAAAGCTACAAAAGAGGA	0.303		NaN											0	0	0	0.003163	0	13	30				
ST6GAL2	84620	broad.mit.edu	37	2	107446552	107446552	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:107446552G>T	uc002tdq.2	-	5	1407	c.1288C>A	c.(1288-1290)CAA>AAA	p.Q430K	ST6GAL2_uc002tdr.2_Missense_Mutation_p.Q430K|ST6GAL2_uc002tds.3_Missense_Mutation_p.Q430K	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	430	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GGGTTTGGTTGAATCTTCTCT	0.368		NaN											1	0	5.44703e-19	0.009718	6.17824e-19	40	126				
RANBP2	5903	broad.mit.edu	37	2	109382668	109382668	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:109382668C>A	uc002tem.3	+	20	5799	c.5673C>A	c.(5671-5673)ATC>ATA	p.I1891I		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1891					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GATTTTCCATCCCTGTGTCTG	0.378		NaN											1	0	2.27525e-19	0.003954	2.59584e-19	19	125				
RANBP2	5903	broad.mit.edu	37	2	109383783	109383783	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:109383783C>G	uc002tem.3	+	20	6914	c.6788C>G	c.(6787-6789)TCA>TGA	p.S2263*		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2263					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTTGGTGAGTCAACAACAGGA	0.418		NaN											0	0	0	0.01441	0	50	297				
CLASP1	23332	broad.mit.edu	37	2	122182786	122182786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:122182786G>A	uc002tnc.2	-	22	2531	c.2141C>T	c.(2140-2142)TCA>TTA	p.S714L	CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S722L|CLASP1_uc010yza.1_Missense_Mutation_p.S714L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.S721L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	714	Ser-rich.|Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					TCGCTTTTCTGAAGACGGTGT	0.512		NaN											0	0	0	0.003271	0	31	68				
CSRNP3	80034	broad.mit.edu	37	2	166514277	166514277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:166514277C>G	uc002udf.2	+	5	531	c.155C>G	c.(154-156)TCC>TGC	p.S52C	CSRNP3_uc002udg.2_Missense_Mutation_p.S52C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	52	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TCAGCTTCCTCCATTCTCAAA	0.443		NaN											0	0	0	0.00874	0	31	85				
LASS6	253782	broad.mit.edu	37	2	169313067	169313067	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:169313067G>T	uc002ueb.1	+	1	233	c.109G>T	c.(109-111)GAC>TAC	p.D37Y	LASS6_uc002uec.1_Missense_Mutation_p.D37Y	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	37	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						GCAGGCTGAGGACCTCTATCT	0.577		NaN											1	0	3.83957e-06	0.00278	4.00442e-06	19	59				
GAD1	2571	broad.mit.edu	37	2	171702544	171702544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:171702544G>C	uc002ugi.2	+	10	1395	c.973G>C	c.(973-975)GAG>CAG	p.E325Q		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	325					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTGATTTTGAGGCAAAAAT	0.363		NaN											0	0	0	0.005443	0	22	105				
SLC25A12	8604	broad.mit.edu	37	2	172691273	172691273	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:172691273G>C	uc002uhh.2	-	7	804	c.715C>G	c.(715-717)CTA>GTA	p.L239V	SLC25A12_uc010fqh.2_Missense_Mutation_p.L132V|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	239					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTGCCAGCTAGAGTGCTATAT	0.373		NaN											0	0	0	0.011902	0	34	105				
NFE2L2	4780	broad.mit.edu	37	2	178097233	178097233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:178097233G>C	uc002ulh.3	-	4	1036	c.481C>G	c.(481-483)CAG>GAG	p.Q161E	NFE2L2_uc002ulg.3_Missense_Mutation_p.Q145E|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q138E|NFE2L2_uc002uli.3_Missense_Mutation_p.Q145E|NFE2L2_uc010fra.2_3'UTR	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	161					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GACTGAGCCTGATTAGTAGCA	0.448		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.006214	0	9	56		Valid		
ITGA4	3676	broad.mit.edu	37	2	182363467	182363467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:182363467G>C	uc002unu.2	+	15	2421	c.1658G>C	c.(1657-1659)AGA>ACA	p.R553T	ITGA4_uc010frj.1_Missense_Mutation_p.R35T	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	553	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTGTCCAGCAGAGAAGCTAAC	0.383		NaN											0	0	0	0.00278	0	18	79				
MSTN	2660	broad.mit.edu	37	2	190924966	190924966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190924966C>T	uc002urp.2	-	2	702	c.569G>A	c.(568-570)CGA>CAA	p.R190Q		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	190					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTCAGAGATCGGATTCCAGT	0.428		NaN											0	0	0	0.01441	0	43	239				
MSTN	2660	broad.mit.edu	37	2	190925004	190925004	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190925004G>C	uc002urp.2	-	2	664	c.531C>G	c.(529-531)ATC>ATG	p.I177M		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	177					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCATAGGTTTGATGAGTCTCA	0.413		NaN											0	0	0	0.013537	0	11	228				
MSTN	2660	broad.mit.edu	37	2	190926953	190926953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190926953C>G	uc002urp.2	-	1	503	c.370G>C	c.(370-372)GAG>CAG	p.E124Q		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	124					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TACTTACACTCTGTAGGCATG	0.403		NaN											0	0	0	0.01441	0	44	218				
MSTN	2660	broad.mit.edu	37	2	190927191	190927191	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:190927191C>A	uc002urp.2	-	1	265	c.132G>T	c.(130-132)TGG>TGT	p.W44C		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	44					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGTTTTGTCTCCAAGTACATG	0.378		NaN											1	0	5.71845e-15	0.005524	6.3261e-15	29	202				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:207025358A>G	uc002vbf.1	+	3	285	c.127A>G	c.(127-129)AGC>GGC	p.S43G	NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGCCGTGTCCAGCCCACCGCC	0.468		NaN											0	0	0	0.000602	0	5	248				
ATIC	471	broad.mit.edu	37	2	216177324	216177324	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:216177324C>T	uc002vex.3	+	2	297	c.123C>T	c.(121-123)CTC>CTT	p.L41L	ATIC_uc010zjo.1_5'UTR|ATIC_uc002vey.3_Silent_p.L40L	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	41					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CAAAAGCTCTCAGGGATGCTG	0.428		NaN	T	ALK	ALCL								0	0	0	0.00333	0	22	38				
SLC23A3	151295	broad.mit.edu	37	2	220033453	220033453	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:220033453G>A	uc010zks.1	-	5	706	c.595C>T	c.(595-597)CCC>TCC	p.P199S	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P207S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P199S|SLC23A3_uc002vjs.1_Missense_Mutation_p.S51F|SLC23A3_uc002vjt.1_Missense_Mutation_p.P57S	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	199	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGGCTGGGAGCCAGCACC	0.662		NaN											0	0	0	0.000602	0	4	15				
SLC23A3	151295	broad.mit.edu	37	2	220034633	220034634	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:220034633_220034634GG>TA	uc010zks.1	-	1	184_185	c.73_74CC>TA	c.(73-75)CCA>TAA	p.P25*	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.P25*|SLC23A3_uc010fwb.2_Nonsense_Mutation_p.P25*|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	25	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGCAGGTGGAGGCAAGGGG	0.614		NaN											0	0	0	0.004672	0	4	35				
TRIP12	9320	broad.mit.edu	37	2	230636274	230636274	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:230636274G>C	uc002vpw.1	-	38	5653	c.5544C>G	c.(5542-5544)GTC>GTG	p.V1848V	TRIP12_uc002vpx.1_Silent_p.V1896V|TRIP12_uc002vpy.1_Silent_p.V1578V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAGTGGGAAGACTGATTCAA	0.378		NaN											0	0	0	0.001168	0	5	47				
INPP5D	3635	broad.mit.edu	37	2	234079180	234079180	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr2:234079180G>A	uc010zmo.1	+	15	1983	c.1830G>A	c.(1828-1830)CAG>CAA	p.Q610Q	INPP5D_uc010zmp.1_Silent_p.Q609Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	610					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGCAGCAGCAGTACGCAGACC	0.532		NaN											0	0	0	0.00278	0	18	36				
TRIB3	57761	broad.mit.edu	37	20	376874	376874	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:376874C>T	uc002wdm.2	+	4	1123	c.617C>T	c.(616-618)TCC>TTC	p.S206F	TRIB3_uc002wdn.2_Missense_Mutation_p.S233F	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	206	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CTGGAGGACTCCTGCGTGCTG	0.607		NaN											0	0	0	0.00245	0	12	57				
RIN2	54453	broad.mit.edu	37	20	19977329	19977329	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:19977329A>G	uc002wro.1	+	10	2243	c.2207A>G	c.(2206-2208)TAT>TGT	p.Y736C	RIN2_uc010gcu.1_Missense_Mutation_p.Y303C|RIN2_uc010gcv.1_Missense_Mutation_p.Y530C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	736	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TCAGGAGGCTATTACTTGACA	0.498		NaN											0	0	0	0.004007	0	15	44				
KIF3B	9371	broad.mit.edu	37	20	30897849	30897849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:30897849G>A	uc002wxq.2	+	2	436	c.269G>A	c.(268-270)GGA>GAA	p.G90E	KIF3B_uc010ztv.1_Missense_Mutation_p.G90E|KIF3B_uc010ztw.1_Missense_Mutation_p.G90E	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	90	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTTTCAATGGAACCATTTTT	0.453		NaN											0	0	0	0.009718	0	35	78				
C20orf70	140683	broad.mit.edu	37	20	31767433	31767433	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:31767433C>A	uc002wyo.1	+	7	740	c.669C>A	c.(667-669)TTC>TTA	p.F223L		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	223						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						TCCGCATCTTCATCCACTCCC	0.527		NaN											1	0	5.02048e-33	0.01441	5.86561e-33	60	147				
CBFA2T2	9139	broad.mit.edu	37	20	32217653	32217653	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:32217653G>A	uc002wzg.1	+	9	1725	c.1188G>A	c.(1186-1188)CTG>CTA	p.L396L	CBFA2T2_uc010zug.1_Silent_p.L170L|CBFA2T2_uc002wze.1_Silent_p.L387L|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.L367L|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	396						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						ACACAGAGCTGAGGAAAACGG	0.507		NaN											0	0	0	0.001168	0	5	34				
SLC2A10	81031	broad.mit.edu	37	20	45354826	45354826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:45354826C>T	uc002xsl.2	+	2	1248	c.1151C>T	c.(1150-1152)TCA>TTA	p.S384L		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	384	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGAGACCCCTCAGCCCCTCCT	0.632		NaN											0	0	0	0.00245	0	12	57				
TAF4	6874	broad.mit.edu	37	20	60575694	60575694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:60575694G>A	uc002ybs.2	-	10	2570	c.2570C>T	c.(2569-2571)TCT>TTT	p.S857F		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	857					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACCAATTCAGAGTTCGTGGC	0.443		NaN											0	0	0	0.010771	0	40	52				
LAMA5	3911	broad.mit.edu	37	20	60900379	60900379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:60900379G>T	uc002ycq.2	-	41	5589	c.5522C>A	c.(5521-5523)TCA>TAA	p.S1841*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1841	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTGGCATGAGTCCCCCCG	0.677		NaN											1	0	0.000978159	0.010729	0.00100754	9	15				
DIDO1	11083	broad.mit.edu	37	20	61541311	61541311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61541311C>T	uc002ydr.1	-	4	1165	c.901G>A	c.(901-903)GAG>AAG	p.E301K	DIDO1_uc002yds.1_Missense_Mutation_p.E301K|DIDO1_uc002ydt.1_Missense_Mutation_p.E301K|DIDO1_uc002ydu.1_Missense_Mutation_p.E301K|DIDO1_uc002ydv.1_Missense_Mutation_p.E301K|DIDO1_uc002ydw.1_Missense_Mutation_p.E301K|DIDO1_uc002ydx.1_Missense_Mutation_p.E301K|DIDO1_uc011aao.1_Missense_Mutation_p.E301K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	301	PHD-type.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCTCGAGCCTCAGAAATGCCC	0.453		NaN											0	0	0	0.010818	0	25	63				
ARFGAP1	55738	broad.mit.edu	37	20	61907473	61907473	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61907473C>G	uc002yem.2	+	3	203	c.91C>G	c.(91-93)CAG>GAG	p.Q31E	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.Q31E|ARFGAP1_uc002yen.2_Missense_Mutation_p.Q31E	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	31	C4-type.|Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GTTCAATCCTCAGTGGGTCAG	0.617		NaN											0	0	0	0.01441	0	85	154				
COL20A1	57642	broad.mit.edu	37	20	61936830	61936830	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr20:61936830G>C	uc011aau.1	+	4	355	c.255G>C	c.(253-255)CTG>CTC	p.L85L	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	85	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGGGGGGCCTGAGCCCCTCCA	0.612		NaN											0	0	0	0.010729	0	8	11				
N6AMT1	29104	broad.mit.edu	37	21	30255367	30255367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:30255367G>A	uc002ymo.1	-	2	187	c.161C>T	c.(160-162)TCA>TTA	p.S54L	N6AMT1_uc002ymp.1_Missense_Mutation_p.S54L|N6AMT1_uc002ymq.1_RNA	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1	54	S-adenosyl-L-methionine binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity				0						ACCAGACCCTGACCCTACTTC	0.368		NaN											0	0	0	0.004007	0	11	52				
SOD1	6647	broad.mit.edu	37	21	33036175	33036175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:33036175C>G	uc002ypa.2	+	2	293	c.145C>G	c.(145-147)CAT>GAT	p.H49D	SOD1_uc002ypb.2_Missense_Mutation_p.H30D|SOD1_uc002ypc.2_RNA	NM_000454	NP_000445	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	49		Copper; catalytic.	H -> Q (in ALS1).|H -> R (in ALS1).		activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding				0						ATTCCATGTTCATGAGTTTGG	0.448		NaN											0	0	0	0.01441	0	37	140				
SOD1	6647	broad.mit.edu	37	21	33039670	33039670	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:33039670C>T	uc002ypa.2	+	4	487	c.339C>T	c.(337-339)ATC>ATT	p.I113I	SOD1_uc002ypb.2_Silent_p.I94I|SOD1_uc002ypc.2_RNA	NM_000454	NP_000445	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	113			I -> M (in ALS1).|I -> T (in ALS1).		activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding				0						ACCATTGCATCATTGGCCGCA	0.428		NaN											0	0	0	0.007291	0	21	165				
SON	6651	broad.mit.edu	37	21	34927106	34927106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:34927106C>T	uc002yse.1	+	3	5618	c.5569C>T	c.(5569-5571)CAT>TAT	p.H1857Y	SON_uc002ysb.1_Missense_Mutation_p.H1857Y|SON_uc002ysc.2_Missense_Mutation_p.H1857Y|SON_uc002ysd.2_Missense_Mutation_p.H848Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.H848Y	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1857					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						GTCCAAGTCTCATCGCTCTCA	0.448		NaN											0	0	0	0.005443	0	22	77				
DOPEY2	9980	broad.mit.edu	37	21	37603182	37603182	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:37603182C>G	uc002yvg.2	+	14	2179	c.2100C>G	c.(2098-2100)TTC>TTG	p.F700L	DOPEY2_uc011aeb.1_Missense_Mutation_p.F700L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	700					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGACTTGTTCACAGCACGAG	0.542		NaN											0	0	0	0.004482	0	8	81				
HLCS	3141	broad.mit.edu	37	21	38126702	38126702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:38126702G>C	uc010gnb.2	-	11	3227	c.2026C>G	c.(2026-2028)CTG>GTG	p.L676V	HLCS_uc002yvs.2_Missense_Mutation_p.L676V	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	676					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GCGCTGCCCAGATGGACTTGC	0.557		NaN											0	0	0	0.006122	0	12	41				
TTC3	7267	broad.mit.edu	37	21	38463619	38463619	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:38463619G>C	uc002yvz.2	+	7	612	c.507G>C	c.(505-507)CTG>CTC	p.L169L	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.L169L|TTC3_uc002ywb.2_Silent_p.L169L|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.L169L	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	169					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AAGAAGCTCTGAATTGGATAA	0.308		NaN											0	0	0	0.00245	0	11	68				
BRWD1	54014	broad.mit.edu	37	21	40627734	40627734	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:40627734C>G	uc002yxk.1	-	19	2231	c.2092G>C	c.(2092-2094)GAC>CAC	p.D698H	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D698H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.D151H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.D418H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GACTGAATGTCTAAGCTCAGC	0.418		NaN											0	0	0	0.003163	0	14	65				
C21orf29	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:45948429C>T	uc002zfe.1	-	6	894	c.828G>A	c.(826-828)CCG>CCA	p.P276P	C21orf29_uc010gpv.1_Silent_p.P208P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	276					cell adhesion	extracellular region	structural molecule activity				0						CCTCGGTACACGGTGGCTGGG	0.577		NaN											0	0	0	0.005443	0	27	25				
KRTAP12-4	386684	broad.mit.edu	37	21	46074247	46074247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr21:46074247G>C	uc002zfs.1	-	1	330	c.285C>G	c.(283-285)TTC>TTG	p.F95L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	keratin associated protein 12-4	95	15 X 5 AA approximate repeats.|14.					keratin filament				ovary(1)	1						GGGTGGGGCAGAAGGGCTGGC	0.632		NaN											0	0	0	0.001168	0	6	31				
GNB1L	54584	broad.mit.edu	37	22	19808787	19808787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:19808787C>G	uc002zqe.1	-	2	486	c.92G>C	c.(91-93)GGA>GCA	p.G31A	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.G31A	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	31	WD 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					AGCCTGGGCTCCTTCGCAGAA	0.687		NaN											0	0	0	0.008871	0	18	71				
SMARCB1	6598	broad.mit.edu	37	22	24175882	24175882	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:24175882G>T	uc002zyb.2	+	8	1317	c.1110G>T	c.(1108-1110)AGG>AGT	p.R370S	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R361S|SMARCB1_uc002zyd.2_Missense_Mutation_p.R379S	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	370					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACCAGGACAGGAACACGAGGT	0.622		NaN	D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				1	0	1.15919e-05	0.008871	1.20464e-05	17	38				
HSCB	150274	broad.mit.edu	37	22	29138168	29138168	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:29138168G>T	uc003aea.2	+	1	126	c.85G>T	c.(85-87)GAT>TAT	p.D29Y	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	29					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						GCTAAGCTGCGATGCTGCGTC	0.682		NaN											1	0	0.00909568	0.009096	0.00928683	3	12				
TBC1D10A	83874	broad.mit.edu	37	22	30722721	30722721	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:30722721G>T	uc011akt.1	-	1	174	c.150C>A	c.(148-150)TTC>TTA	p.F50L	TBC1D10A_uc010gvu.2_Missense_Mutation_p.F50L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.F50L	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	50						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						GGCGCTCGGCGAAGCCGTTGG	0.711		NaN											1	0	2.41591e-17	0.004656	2.70861e-17	19	32				
SEC14L3	266629	broad.mit.edu	37	22	30860840	30860840	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:30860840C>T	uc003ahy.2	-	8	720	c.631G>A	c.(631-633)GAG>AAG	p.E211K	SEC14L3_uc003ahz.2_Missense_Mutation_p.E134K|SEC14L3_uc003aia.2_Missense_Mutation_p.E152K|SEC14L3_uc003aib.2_Missense_Mutation_p.E152K	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	211	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	CGAGTGTCCTCACTCAGGAAT	0.448		NaN											0	0	0	0.01441	0	60	121				
MAFF	23764	broad.mit.edu	37	22	38609853	38609853	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:38609853C>A	uc011anp.1	+	2	331	c.-7C>A	c.(-9--5)TTCTG>TTATG		MAFF_uc003avc.2_Translation_Start_Site|MAFF_uc011anq.1_Intron|MAFF_uc011anr.1_Translation_Start_Site|MAFF_uc003avd.2_Missense_Mutation_p.F47L	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN	transcription factor MAFF isoform a						blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.045)					AGGGCACCTTCTGCAAACATG	0.438		NaN											1	0	2.19962e-31	0.00874	2.56476e-31	33	69				
TNRC6B	23112	broad.mit.edu	37	22	40661039	40661039	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:40661039C>G	uc011aor.1	+	5	1016	c.805C>G	c.(805-807)CAA>GAA	p.Q269E	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.Q269E|TNRC6B_uc003ayo.2_Missense_Mutation_p.Q73E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	269					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TAAATCTGTTCAATCTTCCAA	0.453		NaN											0	0	0	0.00308	0	8	64				
TNRC6B	23112	broad.mit.edu	37	22	40662821	40662821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:40662821C>T	uc011aor.1	+	5	2798	c.2587C>T	c.(2587-2589)CAG>TAG	p.Q863*	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.Q863*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.Q667*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	863	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CAGCGGGCCACAGCCTGCAAC	0.582		NaN											0	0	0	0.001984	0	6	23				
CHKB	1120	broad.mit.edu	37	22	51019955	51019955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr22:51019955G>A	uc003bms.2	-	4	693	c.475C>T	c.(475-477)CGA>TGA	p.R159*	CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Nonsense_Mutation_p.R38*|CHKB_uc003bmv.2_Nonsense_Mutation_p.R159*|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	159					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ACTGGCTCTCGAAGCTCTTGA	0.572		NaN											0	0	0	0.001855	0	11	35				
RPUSD3	285367	broad.mit.edu	37	3	9885243	9885243	+	Silent	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:9885243G>C	uc011atk.1	-	2	172	c.168C>G	c.(166-168)CCC>CCG	p.P56P	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Silent_p.P56P|RPUSD3_uc011atm.1_Silent_p.P48P|RPUSD3_uc003btn.2_Silent_p.P48P	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	56					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)					GGTCCCCGAGGGGCCCCGACC	0.657		NaN											0	0	0	0.013537	0	11	23				
EFHB	151651	broad.mit.edu	37	3	19925987	19925987	+	Missense_Mutation	SNP	C	C	T	rs142916632	byFrequency	TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:19925987C>T	uc003cbl.3	-	11	2250	c.2054G>A	c.(2053-2055)CGG>CAG	p.R685Q	EFHB_uc003cbm.2_Missense_Mutation_p.R555Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	685				R -> W (in Ref. 1; BAC85491).	signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						CAGAAGTGTCCGGAGAGTCTT	0.398		NaN											0	0	0	0.004007	0	13	32				
NR1D2	9975	broad.mit.edu	37	3	24003672	24003672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:24003672C>T	uc003ccs.2	+	5	1041	c.722C>T	c.(721-723)TCT>TTT	p.S241F	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.S166F	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	241					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						ATCAAAAGCTCTTCTCCTCCA	0.448		NaN											0	0	0	0.004007	0	14	32				
NR1D2	9975	broad.mit.edu	37	3	24003755	24003755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:24003755C>G	uc003ccs.2	+	5	1124	c.805C>G	c.(805-807)CAA>GAA	p.Q269E	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.Q194E	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	269					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						TATGTATAATCAAGAGCAGCA	0.423		NaN											0	0	0	0.00245	0	12	50				
DLEC1	9940	broad.mit.edu	37	3	38136538	38136538	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38136538C>A	uc003cho.1	+	13	2109	c.2088C>A	c.(2086-2088)TTC>TTA	p.F696L	DLEC1_uc003chp.1_Missense_Mutation_p.F696L|DLEC1_uc010hgv.1_Missense_Mutation_p.F696L|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	696					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCACGAGTTCATCCTGAGCT	0.517		NaN											1	0	7.92952e-12	0.003954	8.54512e-12	15	61				
DLEC1	9940	broad.mit.edu	37	3	38136557	38136557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38136557C>T	uc003cho.1	+	13	2128	c.2107C>T	c.(2107-2109)CAT>TAT	p.H703Y	DLEC1_uc003chp.1_Missense_Mutation_p.H703Y|DLEC1_uc010hgv.1_Missense_Mutation_p.H703Y|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	703					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTTTCTCCTCATGAGGTTCA	0.527		NaN											0	0	0	0.008871	0	15	53				
DLEC1	9940	broad.mit.edu	37	3	38138129	38138129	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:38138129G>A	uc003cho.1	+	15	2262	c.2241G>A	c.(2239-2241)GTG>GTA	p.V747V	DLEC1_uc003chp.1_Silent_p.V747V|DLEC1_uc010hgv.1_Silent_p.V747V|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	747					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAATCGAGGTGAAAGGCTCAG	0.493		NaN											0	0	0	0.01441	0	43	77				
TMEM89	440955	broad.mit.edu	37	3	48658340	48658340	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48658340G>T	uc011bbo.1	-	2	415	c.415C>A	c.(415-417)CAC>AAC	p.H139N		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	139	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGACGTAGGTGGCCTTCGATG	0.612		NaN											1	0	4.65686e-17	0.003755	5.20106e-17	35	86				
CELSR3	1951	broad.mit.edu	37	3	48675652	48675652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48675652C>A	uc003cul.2	-	35	10206	c.9925G>T	c.(9925-9927)GAG>TAG	p.E3309*	CELSR3_uc003cuf.1_Intron|SLC26A6_uc003cuh.2_5'Flank|SLC26A6_uc010hke.2_5'Flank|SLC26A6_uc003cuk.2_5'Flank|SLC26A6_uc003cui.2_5'Flank|SLC26A6_uc003cuj.2_5'Flank|SLC26A6_uc011bbp.1_5'Flank|CELSR3_uc010hkf.2_Nonsense_Mutation_p.E599*|CELSR3_uc010hkg.2_Nonsense_Mutation_p.E1292*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3309	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGTGACCCTCACTTCTGGGA	0.607		NaN											1	0	6.00712e-18	0.012213	6.76091e-18	21	55				
CELSR3	1951	broad.mit.edu	37	3	48694197	48694197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48694197G>C	uc003cul.2	-	2	4614	c.4333C>G	c.(4333-4335)CGC>GGC	p.R1445G	CELSR3_uc003cuf.1_Missense_Mutation_p.R1515G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1445	Extracellular (Potential).|EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGCCGTTGCGACATGGGTTG	0.711		NaN											0	0	0	0.004672	0	2	8				
CELSR3	1951	broad.mit.edu	37	3	48698429	48698429	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:48698429C>T	uc003cul.2	-	1	1920	c.1639G>A	c.(1639-1641)GAG>AAG	p.E547K	CELSR3_uc003cuf.1_Missense_Mutation_p.E617K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	547	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGCGCTTCTCGCTGAACTGA	0.652		NaN											0	0	0	0.00333	0	22	34				
QRICH1	54870	broad.mit.edu	37	3	49094498	49094498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49094498G>A	uc010hkq.2	-	4	1431	c.1135C>T	c.(1135-1137)CTT>TTT	p.L379F	QRICH1_uc003cvu.2_Missense_Mutation_p.L379F|QRICH1_uc003cvv.2_Missense_Mutation_p.L379F	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	379	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGTTTGCAAGGGTCTGCACT	0.522		NaN											0	0	0	0.004656	0	24	55				
KLHDC8B	200942	broad.mit.edu	37	3	49212384	49212384	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49212384T>G	uc003cwh.2	+	4	936	c.751T>G	c.(751-753)TTT>GTT	p.F251V	KLHDC8B_uc003cwi.1_Missense_Mutation_p.F124V	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	251	Kelch 6.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTGGAGATGTTTGACCTGGA	0.587		NaN											0	0	0	0.003163	0	12	82				
USP4	7375	broad.mit.edu	37	3	49362149	49362149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362149C>G	uc003cwq.2	-	6	760	c.681G>C	c.(679-681)CAG>CAC	p.Q227H	USP4_uc003cwr.2_Missense_Mutation_p.Q227H	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	227					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTGCAAGGTCTGCCTGGGCC	0.438		NaN											0	0	0	0.004007	0	13	90				
USP4	7375	broad.mit.edu	37	3	49362462	49362462	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362462C>A	uc003cwq.2	-	5	577	c.498G>T	c.(496-498)GAG>GAT	p.E166D	USP4_uc003cwr.2_Missense_Mutation_p.E166D	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	166					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCATCTCTTTCTCGATGGTTG	0.478		NaN											1	0	3.73808e-20	0.005443	4.29843e-20	21	131				
DAG1	1605	broad.mit.edu	37	3	49568599	49568599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49568599G>A	uc003cxc.3	+	3	1073	c.655G>A	c.(655-657)GAA>AAA	p.E219K		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	219	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTCTCAGAAGTAGAGCT	0.488		NaN											0	0	0	0.00333	0	20	45				
BSN	8927	broad.mit.edu	37	3	49691151	49691151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49691151C>A	uc003cxe.3	+	5	4276	c.4162C>A	c.(4162-4164)CCT>ACT	p.P1388T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1388					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGTGGCTCCTTGTCCAGC	0.622		NaN											1	0	4.3181e-19	0.013726	4.90731e-19	32	62				
AMIGO3	386724	broad.mit.edu	37	3	49756782	49756782	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49756782G>C	uc003cxj.2	-	1	457	c.117C>G	c.(115-117)ATC>ATG	p.I39M	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	39	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGCAGCGCAGATACATTTGT	0.652		NaN									OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	17	144				
GMPPB	29925	broad.mit.edu	37	3	49759447	49759447	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49759447G>A	uc003cxk.1	-	8	1127	c.902C>T	c.(901-903)TCC>TTC	p.S301F	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.S301F	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	301					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCAAGCCAGGAATGGGAACG	0.667		NaN											0	0	0	0.006122	0	12	114				
MST1R	4486	broad.mit.edu	37	3	49927421	49927421	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49927421C>G	uc003cxy.3	-	19	4147	c.3883G>C	c.(3883-3885)GAC>CAC	p.D1295H	MST1R_uc011bdc.1_Missense_Mutation_p.D174H	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1295	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.532		NaN											0	0	0	0.011902	0	35	82				
PARP3	10039	broad.mit.edu	37	3	51979599	51979599	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:51979599G>T	uc003dby.2	+	7	1321	c.950G>T	c.(949-951)CGA>CTA	p.R317L	PARP3_uc003dbz.2_Missense_Mutation_p.R324L	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	317	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCTGGACCGAGACTACCAG	0.627		NaN											1	0	1.59932e-28	0.007835	1.85738e-28	32	61				
FAM116A	201627	broad.mit.edu	37	3	57649368	57649368	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:57649368G>C	uc003dja.2	-	5	579	c.508C>G	c.(508-510)CAG>GAG	p.Q170E		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	170										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		ATTACCTTCTGAAAGTAGCCT	0.289		NaN											0	0	0	0.003271	0	25	68				
ADAMTS9	56999	broad.mit.edu	37	3	64607917	64607917	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:64607917C>A	uc003dmg.2	-	18	2675	c.2643G>T	c.(2641-2643)TGG>TGT	p.W881C	ADAMTS9_uc011bfo.1_Missense_Mutation_p.W853C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.W710C|ADAMTS9_uc003dmk.1_Missense_Mutation_p.W881C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	881	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATGACTGTTCCAGTAAAACT	0.393		NaN											1	0	1.57945e-13	0.011902	1.71795e-13	35	68				
UBA3	9039	broad.mit.edu	37	3	69124658	69124658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:69124658G>C	uc003dno.2	-	4	207	c.187C>G	c.(187-189)CTC>GTC	p.L63V	UBA3_uc003dnq.2_Missense_Mutation_p.L49V|UBA3_uc011bfy.1_5'UTR|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	63	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGAACTGGAGAGACTGTAAA	0.338		NaN											0	0	0	0.010504	0	16	39				
FRMD4B	23150	broad.mit.edu	37	3	69246184	69246184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:69246184G>C	uc003dnv.2	-	13	1249	c.959C>G	c.(958-960)TCA>TGA	p.S320*	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.S164*	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	320	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCTTGAAACTGAAATCCTGAA	0.418		NaN											0	0	0	0.00499	0	13	19				
EIF4E3	317649	broad.mit.edu	37	3	71743081	71743081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:71743081C>G	uc003dov.3	-	5	425	c.417G>C	c.(415-417)TGG>TGC	p.W139C	EIF4E3_uc011bgc.1_Missense_Mutation_p.W33C|EIF4E3_uc003dox.2_Missense_Mutation_p.W33C|EIF4E3_uc011bgd.1_Missense_Mutation_p.W33C|EIF4E3_uc010hoc.2_Missense_Mutation_p.W33C	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E	139					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GCAACTCTTTCCAAACTGTGG	0.448		NaN											0	0	0	0.009096	0	3	10				
OR5H1	26341	broad.mit.edu	37	3	97852160	97852160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:97852160C>G	uc011bgt.1	+	1	619	c.619C>G	c.(619-621)CAG>GAG	p.Q207E		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						AGGTTCAATTCAGGTATTCAG	0.313		NaN											0	0	0	0.001984	0	6	33				
PHLDB2	90102	broad.mit.edu	37	3	111686606	111686606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:111686606G>A	uc010hqa.2	+	15	3661	c.3250G>A	c.(3250-3252)GAA>AAA	p.E1084K	PHLDB2_uc003dyc.2_Missense_Mutation_p.E1068K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1084K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E1041K|PHLDB2_uc003dyi.2_Missense_Mutation_p.E575K|PHLDB2_uc003dyj.2_Missense_Mutation_p.E139K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1084	Potential.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						ATTACAGGAAGAAACTAGCCA	0.433		NaN									OREG0015707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	6	22				
KIAA2018	205717	broad.mit.edu	37	3	113376375	113376375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:113376375G>A	uc003eam.2	-	7	4565	c.4154C>T	c.(4153-4155)TCA>TTA	p.S1385L	KIAA2018_uc003eal.2_Missense_Mutation_p.S1329L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1385					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AGGCACAACTGAGTTTGAAGA	0.448		NaN											0	0	0	0.00245	0	13	53				
ZBTB20	26137	broad.mit.edu	37	3	114070334	114070334	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:114070334C>T	uc003ebi.2	-	4	771	c.591G>A	c.(589-591)GTG>GTA	p.V197V	ZBTB20_uc003ebj.2_Silent_p.V124V|ZBTB20_uc010hqp.2_Silent_p.V124V|ZBTB20_uc003ebk.2_Silent_p.V124V|ZBTB20_uc003ebl.2_Silent_p.V124V|ZBTB20_uc003ebm.2_Silent_p.V124V|ZBTB20_uc003ebn.2_Silent_p.V124V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACACATCGCCCACGTTCTGTG	0.652		NaN											0	0	0	0.010729	0	10	79				
ACPP	55	broad.mit.edu	37	3	132068810	132068810	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:132068810G>C	uc010htp.2	+	8	918	c.828G>C	c.(826-828)CAG>CAC	p.Q276H	ACPP_uc003eon.3_Missense_Mutation_p.Q243H|ACPP_uc003eop.3_Missense_Mutation_p.Q276H	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	276						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						GAGCAACTCAGATACCAAGCT	0.299		NaN											0	0	0	0.006214	0	10	61				
CEP63	80254	broad.mit.edu	37	3	134278032	134278032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:134278032G>A	uc003eqo.1	+	15	2163	c.1714G>A	c.(1714-1716)GAG>AAG	p.E572K	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	572					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						AATAAAGACTGAGCACTACAA	0.433		NaN											0	0	0	0.01441	0	56	103				
DZIP1L	199221	broad.mit.edu	37	3	137822364	137822364	+	Silent	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:137822364G>T	uc003erq.2	-	2	813	c.450C>A	c.(448-450)ATC>ATA	p.I150I	DZIP1L_uc003err.1_Silent_p.I150I	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	150						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						GCAGGGTGCTGATCATCTTGC	0.662		NaN											1	0	2.27111e-07	0.013537	2.39432e-07	12	26				
SMC4	10051	broad.mit.edu	37	3	160148850	160148850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:160148850C>T	uc003fdh.2	+	20	3084	c.2971C>T	c.(2971-2973)CGC>TGC	p.R991C	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.R966C|SMC4_uc003fdj.2_Missense_Mutation_p.R991C|SMC4_uc010hwd.2_Intron|SMC4_uc003fdl.2_Missense_Mutation_p.R694C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	991	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGAACATCGCAATCTGCT	0.333		NaN											0	0	0	0.014323	0	21	50				
SAMD7	344658	broad.mit.edu	37	3	169654187	169654187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:169654187C>T	uc003fgd.2	+	8	1369	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*	SAMD7_uc003fge.2_Nonsense_Mutation_p.R368*|SAMD7_uc011bpo.1_Nonsense_Mutation_p.R269*	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	368	SAM.									skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGAGCATCTTCGAGGCACTAT	0.353		NaN											0	0	0	0.008871	0	15	91				
FETUB	26998	broad.mit.edu	37	3	186370280	186370280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:186370280G>A	uc010hyq.2	+	8	1270	c.1009G>A	c.(1009-1011)GAA>AAA	p.E337K	FETUB_uc011brz.1_Missense_Mutation_p.E189K|FETUB_uc003fqn.2_Missense_Mutation_p.E337K|FETUB_uc003fqo.2_Missense_Mutation_p.E232K|FETUB_uc010hyr.2_Missense_Mutation_p.E300K|FETUB_uc010hys.2_Missense_Mutation_p.E189K|FETUB_uc003fqp.3_Missense_Mutation_p.E272K	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	337						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCCAGGGAGAAACCCTGGA	0.522		NaN											0	0	0	0.012319	0	17	98				
RFC4	5984	broad.mit.edu	37	3	186509528	186509528	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:186509528T>C	uc003fqz.2	-	8	1010	c.787A>G	c.(787-789)ACA>GCA	p.T263A	RFC4_uc011bsc.1_Missense_Mutation_p.T263A|RFC4_uc011bsd.1_Missense_Mutation_p.T263A	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	263					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAATGTCTGTAATCACTTTC	0.328		NaN											0	0	0	0.004672	0	3	126				
TNIP2	79155	broad.mit.edu	37	4	2746230	2746230	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:2746230G>A	uc003gfg.2	-	5	997	c.910C>T	c.(910-912)CTC>TTC	p.L304F	TNIP2_uc003gff.2_Missense_Mutation_p.L197F|TNIP2_uc003gfh.2_Missense_Mutation_p.L221F	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	304	Potential.					cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGTAAGCGAGAATCTGAAGA	0.552		NaN											0	0	0	0.008361	0	23	44				
RASL11B	65997	broad.mit.edu	37	4	53728708	53728708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:53728708G>A	uc003gzt.2	+	1	214	c.34G>A	c.(34-36)GAG>AAG	p.E12K		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	12					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			CACCATCGCCGAGTACCCCGC	0.731		NaN											0	0	0	0.00308	0	7	25				
PTPN13	5783	broad.mit.edu	37	4	87622590	87622590	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:87622590C>G	uc003hpz.2	+	7	1311	c.831C>G	c.(829-831)TTC>TTG	p.F277L	PTPN13_uc003hpy.2_Missense_Mutation_p.F277L|PTPN13_uc003hqa.2_Missense_Mutation_p.F277L|PTPN13_uc003hqb.2_Missense_Mutation_p.F277L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	277						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTACCAGTTCAAAACTAGTG	0.393		NaN											0	0	0	0.004482	0	7	11				
PALLD	23022	broad.mit.edu	37	4	169433469	169433469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr4:169433469C>G	uc011cjx.1	+	2	1025	c.814C>G	c.(814-816)CGA>GGA	p.R272G	PALLD_uc003iru.2_Missense_Mutation_p.R272G	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	272	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCTGCACCTCGATTCATCCA	0.567		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.001168	0	4	41				
SLC6A18	348932	broad.mit.edu	37	5	1245984	1245984	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:1245984G>C	uc003jby.1	+	12	1801	c.1678G>C	c.(1678-1680)GAG>CAG	p.E560Q		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	560	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCGCGTCAGGAGAAGCTCTA	0.706		NaN											0	0	0	0.001168	0	5	34				
CCT5	22948	broad.mit.edu	37	5	10258507	10258507	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:10258507G>A	uc003jeq.2	+	6	904	c.733G>A	c.(733-735)GAT>AAT	p.D245N	CCT5_uc011cmq.1_Missense_Mutation_p.D92N|CCT5_uc003jer.2_Missense_Mutation_p.D245N|CCT5_uc010its.2_Missense_Mutation_p.D245N|CCT5_uc011cmr.1_Missense_Mutation_p.D190N|CCT5_uc011cms.1_Missense_Mutation_p.D207N|CCT5_uc011cmt.1_Missense_Mutation_p.D152N	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	245					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						GAAAGTGGAAGATGCGAAGAT	0.408		NaN											0	0	0	0.010504	0	17	109				
DNAH5	1767	broad.mit.edu	37	5	13708301	13708301	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:13708301G>A	uc003jfd.2	-	76	13311	c.13269C>T	c.(13267-13269)ATC>ATT	p.I4423I	DNAH5_uc003jfc.2_Silent_p.I591I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4423					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTCGCTCATGATGATGGTGC	0.458		NaN							Kartagener_syndrome				0	0	0	0.01441	0	73	198				
UGT3A1	133688	broad.mit.edu	37	5	35965895	35965895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:35965895C>T	uc003jjv.1	-	4	593	c.436G>A	c.(436-438)GCA>ACA	p.A146T	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.A146T|UGT3A1_uc011cor.1_Missense_Mutation_p.A112T|UGT3A1_uc003jjy.1_Missense_Mutation_p.A92T	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	146	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAATGCTTCAACAAAT	0.383		NaN											0	0	0	0.003954	0	21	36				
RICTOR	253260	broad.mit.edu	37	5	38952313	38952313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:38952313C>A	uc003jlp.2	-	30	3136	c.3112G>T	c.(3112-3114)GAA>TAA	p.E1038*	RICTOR_uc003jlo.2_Nonsense_Mutation_p.E1038*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.E753*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1038	Ser-rich.				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GGCACAGATTCACTTTCACTA	0.343		NaN											1	0	1.1804e-14	0.003954	1.30089e-14	21	23				
PPAP2A	8611	broad.mit.edu	37	5	54721117	54721117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54721117C>G	uc003jqa.2	-	6	1188	c.772G>C	c.(772-774)GAA>CAA	p.E258Q	SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_Missense_Mutation_p.E259Q|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	258	Cytoplasmic (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCTTTTCTTTCTTTAAAAGAA	0.378		NaN											0	0	0	0.00308	0	6	39				
PPAP2A	8611	broad.mit.edu	37	5	54721830	54721830	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54721830C>G	uc003jqa.2	-	5	1003	c.587G>C	c.(586-588)AGA>ACA	p.R196T	PPAP2A_uc003jpz.2_Missense_Mutation_p.R197T|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	196	Cytoplasmic (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCGTAAGAGTCTTGCCCAGTC	0.378		NaN											0	0	0	0.001855	0	11	55				
PPAP2A	8611	broad.mit.edu	37	5	54737722	54737722	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:54737722G>C	uc003jqa.2	-	4	922	c.506C>G	c.(505-507)TCA>TGA	p.S169*	PPAP2A_uc003jpz.2_Nonsense_Mutation_p.S170*|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	169	Helical; (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				AGAGTGGCCTGAATAGAAGGA	0.393		NaN											0	0	0	0.008361	0	26	45				
CHD1	1105	broad.mit.edu	37	5	98215419	98215419	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:98215419G>C	uc003knf.2	-	22	3222	c.3074C>G	c.(3073-3075)TCA>TGA	p.S1025*		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1025					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCCATATTTGAGAAGTTGGC	0.343		NaN											0	0	0	0.009096	0	3	10				
WDR36	134430	broad.mit.edu	37	5	110428137	110428137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:110428137G>C	uc003kpd.2	+	1	268	c.151G>C	c.(151-153)GCT>CCT	p.A51P	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	51					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTGAGAGGAGCTGGGATCGC	0.602		NaN											0	0	0	0.008291	0	7	48				
SRP19	6728	broad.mit.edu	37	5	112227372	112227372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:112227372G>C	uc011cvv.1	+	4	366	c.111G>C	c.(109-111)AAG>AAC	p.K37N	SRP19_uc011cvu.1_Missense_Mutation_p.K22N|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TTCCCAAGAAGATGACATTTC	0.473		NaN											0	0	0	0.009096	0	4	11				
PHF15	23338	broad.mit.edu	37	5	133914845	133914845	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:133914845G>A	uc003kzo.1	+	11	2390	c.2211G>A	c.(2209-2211)GAG>GAA	p.E737E	PHF15_uc011cxt.1_Silent_p.E781E|PHF15_uc003kzk.2_Silent_p.E797E|PHF15_uc003kzm.2_Silent_p.E738E|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	737					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGGCTGAGAGGCCCAAGG	0.622		NaN											0	0	0	0.008291	0	9	62				
SEC24A	10802	broad.mit.edu	37	5	134029515	134029515	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:134029515G>A	uc003kzs.2	+	13	2166	c.1878G>A	c.(1876-1878)CTG>CTA	p.L626L	SEC24A_uc011cxu.1_Silent_p.L390L	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	626					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTAAGCTGATGTCTCCAA	0.498		NaN											0	0	0	0.006214	0	9	48				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139916980	139916980	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:139916980C>G	uc003lfs.1	+	31	7158	c.7034C>G	c.(7033-7035)TCT>TGT	p.S2345C	ANKHD1_uc003lfr.2_Missense_Mutation_p.S2345C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1101C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S1000C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S721C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S499C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2345						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCACTTCTGCCCCACCA	0.453		NaN											0	0	0	0.010818	0	25	91				
APBB3	10307	broad.mit.edu	37	5	139941016	139941016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:139941016C>A	uc003lgd.1	-	8	1140	c.781G>T	c.(781-783)GAG>TAG	p.E261*	APBB3_uc003lgb.1_Nonsense_Mutation_p.E33*|APBB3_uc003lgc.1_Nonsense_Mutation_p.E33*|APBB3_uc003lge.1_Nonsense_Mutation_p.E254*|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Nonsense_Mutation_p.E33*|APBB3_uc010jfq.1_Nonsense_Mutation_p.E33*	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	256	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGACCTCTACTCGCTCT	0.547		NaN											1	0	8.24728e-16	0.004656	9.17589e-16	23	141				
PCDHA12	56137	broad.mit.edu	37	5	140257094	140257094	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:140257094G>A	uc003lic.2	+	1	2164	c.2037G>A	c.(2035-2037)TCG>TCA	p.S679S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S679S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	679	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGACGTCGTCGCGGGCCT	0.657		NaN											0	0	0	0.004672	0	3	37				
PCDHGA10	56106	broad.mit.edu	37	5	140795020	140795020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:140795020G>A	uc003lkl.1	+	1	2278	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.E760K|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	760	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCCCACGAGGTCTCTCT	0.602		NaN											0	0	0	0.01441	0	56	107				
PCDH12	51294	broad.mit.edu	37	5	141334867	141334867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:141334867G>C	uc003llx.2	-	1	3761	c.2550C>G	c.(2548-2550)TTC>TTG	p.F850L		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	850	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATGGTTGAAAAGGAGGT	0.627		NaN											0	0	0	0.014323	0	18	70				
PCDH12	51294	broad.mit.edu	37	5	141336269	141336269	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:141336269G>A	uc003llx.2	-	1	2359	c.1148C>T	c.(1147-1149)TCA>TTA	p.S383L		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	383	Cadherin 4.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGTGTCCTGAATCCAAGTC	0.507		NaN											0	0	0	0.00278	0	20	94				
SLC36A3	285641	broad.mit.edu	37	5	150675819	150675819	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:150675819A>G	uc003ltw.2	-	3	649	c.230T>C	c.(229-231)GTC>GCC	p.V77A	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.V21A|SLC36A3_uc003ltx.2_Missense_Mutation_p.V77A	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	77	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAGGCTGACAGGACCGAC	0.597		NaN											0	0	0	0.00308	0	7	30				
NOP16	51491	broad.mit.edu	37	5	175811345	175811345	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr5:175811345G>C	uc011dfl.1	-	5	424	c.424C>G	c.(424-426)CAA>GAA	p.Q142E	NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein homolog	142						nucleolus				ovary(1)|central_nervous_system(1)	2						GGGGTATCTTGATAGTAATTC	0.448		NaN											0	0	0	0.001168	0	6	45				
GPLD1	2822	broad.mit.edu	37	6	24486344	24486344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:24486344C>T	uc003ned.1	-	2	223	c.112G>A	c.(112-114)GAG>AAG	p.E38K	GPLD1_uc010jps.1_Missense_Mutation_p.E38K|GPLD1_uc003nee.2_Missense_Mutation_p.E38K	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	38						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TGAAGAAACTCCAGAGCTCTG	0.323		NaN											0	0	0	0.009535	0	20	129				
HIST1H1C	3006	broad.mit.edu	37	6	26056443	26056443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:26056443C>G	uc003nfw.2	-	1	257	c.214G>C	c.(214-216)GAT>CAT	p.D72H		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	72	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						TTCTCCACATCATAGCCGGCG	0.557		NaN											0	0	0	0.010504	0	18	87				
HIST1H1T	3010	broad.mit.edu	37	6	26108038	26108038	+	Missense_Mutation	SNP	C	C	A	rs147905742		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:26108038C>A	uc003ngj.2	-	1	327	c.284G>T	c.(283-285)GGA>GTA	p.G95V		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	95	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						CACCAGGATTCCCTTGTTCAC	0.478		NaN											1	0	1.17739e-12	0.005443	1.27825e-12	23	55				
HIST1H2AG	8969	broad.mit.edu	37	6	27100906	27100906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:27100906C>T	uc003niw.2	+	1	90	c.56C>T	c.(55-57)TCT>TTT	p.S19F	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	19					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						AAGACTCGCTCTTCTAGGGCC	0.642		NaN											0	0	0	0.00632	0	24	34				
HIST1H2AK	8330	broad.mit.edu	37	6	27805994	27805994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:27805994C>T	uc003njs.2	-	1	124	c.124G>A	c.(124-126)GAG>AAG	p.E42K	HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	42					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			upper_aerodigestive_tract(1)	1						CCGACCCGCTCAGCGTAGTTG	0.657		NaN											0	0	0	0.00245	0	12	38				
DDR1	780	broad.mit.edu	37	6	30865172	30865172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:30865172G>C	uc003nrr.2	+	16	2273	c.2014G>C	c.(2014-2016)GAG>CAG	p.E672Q	DDR1_uc010jse.2_Missense_Mutation_p.E635Q|DDR1_uc003nrq.2_Missense_Mutation_p.E635Q|DDR1_uc003nrs.2_Missense_Mutation_p.E672Q|DDR1_uc003nrt.2_Missense_Mutation_p.E635Q|DDR1_uc011dms.1_Missense_Mutation_p.E653Q|DDR1_uc003nru.2_Missense_Mutation_p.E635Q|DDR1_uc003nrv.2_Missense_Mutation_p.E678Q|DDR1_uc003nrw.1_Missense_Mutation_p.E407Q|DDR1_uc003nrz.1_5'UTR	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	672	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TTTCCTGAAAGAGGTGAAGAT	0.587		NaN											0	0	0	0.010504	0	16	58				
MICA	4276	broad.mit.edu	37	6	31382788	31382788	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31382788G>A	uc003ntk.1	+	7	1064	c.1025_splice	c.e7-1							RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;												0		Ovarian(999;0.0253)				CTTTTCTCCAGAGCTCGTGAG	0.522		NaN											0	0	0	0.010729	0	9	73				
CSNK2B	1460	broad.mit.edu	37	6	31635728	31635728	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31635728G>T	uc003nvr.1	+	3	496	c.156G>T	c.(154-156)ATG>ATT	p.M52I	BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.M52I|CSNK2B_uc003nvs.1_Missense_Mutation_p.M52I|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	52					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						CTCTAGACATGATCTTGGACC	0.458		NaN											1	0	0.00185496	0.001855	0.0019073	8	55				
BAT5	7920	broad.mit.edu	37	6	31657862	31657862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:31657862C>T	uc003nvy.1	-	11	980	c.950G>A	c.(949-951)GGA>GAA	p.G317E	BAT5_uc003nvx.1_Missense_Mutation_p.G98E|BAT5_uc011dny.1_Missense_Mutation_p.G284E|BAT5_uc003nvz.1_Missense_Mutation_p.G98E|BAT5_uc011dnz.1_Missense_Mutation_p.G98E|BAT5_uc010jtc.1_RNA	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	317						integral to membrane	hydrolase activity|protein binding				0						CACCGTGCTTCCAGCAAAGCC	0.542		NaN											0	0	0	0.013537	0	8	59				
PTK7	5754	broad.mit.edu	37	6	43096807	43096807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:43096807C>G	uc003oub.1	+	2	370	c.172C>G	c.(172-174)CCG>GCG	p.P58A	PTK7_uc003ouc.1_Missense_Mutation_p.P58A|PTK7_uc003oud.1_Missense_Mutation_p.P58A|PTK7_uc003oue.1_Missense_Mutation_p.P58A|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.P66A|PTK7_uc003oua.2_Missense_Mutation_p.P58A	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	58	Ig-like C2-type 1.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGTTGAGGCTCCGGGCCCGGT	0.642		NaN											0	0	0	0.004007	0	11	16				
XPO5	57510	broad.mit.edu	37	6	43516011	43516011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:43516011G>A	uc003ovp.2	-	18	2258	c.2047C>T	c.(2047-2049)CAA>TAA	p.Q683*		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	683					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGCATGTCTTGAGAAAGCCAG	0.502		NaN											0	0	0	0.005443	0	22	94				
OPN5	221391	broad.mit.edu	37	6	47775996	47775996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:47775996C>T	uc003ozc.2	+	5	868	c.863C>T	c.(862-864)TCT>TTT	p.S288F	OPN5_uc003ozd.2_Missense_Mutation_p.S123F	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	288	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						ATACAGCTCTCTGTGGTGCCA	0.453		NaN											0	0	0	0.009535	0	25	130				
PHF3	23469	broad.mit.edu	37	6	64390047	64390047	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:64390047C>T	uc003pep.1	+	2	417	c.391C>T	c.(391-393)CGT>TGT	p.R131C	PHF3_uc010kaf.1_Missense_Mutation_p.R131C|PHF3_uc003pem.2_Missense_Mutation_p.R84C|PHF3_uc010kag.1_Missense_Mutation_p.R43C|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.R43C|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.R131C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	131					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAATCACCTCGTTTAATGGC	0.383		NaN											0	0	0	0.012319	0	18	93				
IBTK	25998	broad.mit.edu	37	6	82927697	82927697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:82927697C>G	uc003pjl.1	-	10	1933	c.1406G>C	c.(1405-1407)AGA>ACA	p.R469T	IBTK_uc011dyv.1_Missense_Mutation_p.R469T|IBTK_uc011dyw.1_Missense_Mutation_p.R469T|IBTK_uc010kbi.1_Missense_Mutation_p.R163T|IBTK_uc003pjm.2_Missense_Mutation_p.R469T	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	469					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAACTCTTTCTTTTCTCTTC	0.318		NaN											0	0	0	0.008291	0	9	29				
SLC35F1	222553	broad.mit.edu	37	6	118588187	118588187	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:118588187G>A	uc003pxx.3	+	4	708	c.507G>A	c.(505-507)GTG>GTA	p.V169V	SLC35F1_uc003pxy.1_5'UTR	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	169	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		TCCCAGTCGTGATTTTGCTCT	0.502		NaN											0	0	0	0.01441	0	56	332				
MYB	4602	broad.mit.edu	37	6	135511379	135511379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:135511379G>C	uc003qfc.2	+	5	620	c.421G>C	c.(421-423)GAA>CAA	p.E141Q	MYB_uc003qfh.2_Missense_Mutation_p.E141Q|MYB_uc003qfi.2_Missense_Mutation_p.E141Q|MYB_uc010kgi.2_Missense_Mutation_p.E141Q|MYB_uc003qfq.2_Missense_Mutation_p.E141Q|MYB_uc010kgj.2_Missense_Mutation_p.E141Q|MYB_uc003qfo.2_Missense_Mutation_p.E141Q|MYB_uc003qfu.2_Missense_Mutation_p.E141Q|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.E141Q|MYB_uc003qgd.1_5'UTR	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	141	HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTTGAATCCAGAAGTTAAGAA	0.453		NaN	T	NFIB	adenoid cystic carcinoma								0	0	0	0.006214	0	9	53				
MYB	4602	broad.mit.edu	37	6	135539063	135539063	+	Missense_Mutation	SNP	C	C	T	rs148508251		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:135539063C>T	uc003qfc.2	+	15	2067	c.1868C>T	c.(1867-1869)TCC>TTC	p.S623F	MYB_uc003qfh.2_Missense_Mutation_p.S744F|MYB_uc003qfi.2_Missense_Mutation_p.S728F|MYB_uc010kgi.2_Missense_Mutation_p.S586F|MYB_uc003qfq.2_Missense_Mutation_p.S741F|MYB_uc010kgj.2_Missense_Mutation_p.S588F|MYB_uc003qfo.2_Missense_Mutation_p.S538F|MYB_uc003qfu.2_Missense_Mutation_p.S620F|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.S249F|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.S435F|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	623					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ATGACATCTTCCAGTCAAGCT	0.478		NaN	T	NFIB	adenoid cystic carcinoma								0	0	0	0.008291	0	10	69				
SYNE1	23345	broad.mit.edu	37	6	152631862	152631862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:152631862C>G	uc010kiw.2	-	88	17459	c.16857G>C	c.(16855-16857)ATG>ATC	p.M5619I	SYNE1_uc010kiv.2_Missense_Mutation_p.M143I|SYNE1_uc003qos.3_Missense_Mutation_p.M143I|SYNE1_uc003qot.3_Missense_Mutation_p.M5548I|SYNE1_uc003qou.3_Missense_Mutation_p.M5619I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5619	Spectrin 17.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAATTTTGATCATCTGTCGCA	0.363		NaN								HNSCC(10;0.0054)			0	0	0	0.007413	0	15	23				
SYNE1	23345	broad.mit.edu	37	6	152740829	152740829	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:152740829C>G	uc010kiw.2	-	40	5898	c.5296G>C	c.(5296-5298)GAA>CAA	p.E1766Q	SYNE1_uc003qot.3_Missense_Mutation_p.E1773Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1766Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1749Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1766	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGGTGTTCAGCAACCACA	0.348		NaN								HNSCC(10;0.0054)			0	0	0	0.00499	0	11	42				
MAP3K4	4216	broad.mit.edu	37	6	161527697	161527697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr6:161527697G>C	uc003qtn.2	+	20	4150	c.4008G>C	c.(4006-4008)TTG>TTC	p.L1336F	MAP3K4_uc010kkc.1_Missense_Mutation_p.L1332F|MAP3K4_uc003qto.2_Missense_Mutation_p.L1286F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.L789F|MAP3K4_uc003qtp.2_Missense_Mutation_p.L272F|MAP3K4_uc003qtq.2_Missense_Mutation_p.L25F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1336					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACGTTGGCTTGAGGAAGGTGA	0.378		NaN											0	0	0	0.01441	0	38	50				
C7orf27	221927	broad.mit.edu	37	7	2579517	2579517	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:2579517C>G	uc003smi.2	-	11	1443	c.1401G>C	c.(1399-1401)CTG>CTC	p.L467L	C7orf27_uc003smh.3_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	467					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGGCCTTCTTCAGAACCTGGA	0.652		NaN											0	0	0	0.001168	0	4	5				
EIF2AK1	27102	broad.mit.edu	37	7	6098634	6098634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:6098634G>C	uc003spp.2	-	1	227	c.81C>G	c.(79-81)ATC>ATG	p.I27M	EIF2AK1_uc003spq.2_Missense_Mutation_p.I27M|EIF2AK1_uc011jwm.1_Translation_Start_Site	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	27				PPAIDFPAE -> RRHRLSRR (in Ref. 1; AAF70289).	negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGGGAAAGTCGATGGCCGGCG	0.642		NaN											0	0	0	0.009096	0	3	6				
MPP6	51678	broad.mit.edu	37	7	24705264	24705264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:24705264G>C	uc003swx.2	+	8	1140	c.841G>C	c.(841-843)GAG>CAG	p.E281Q	MPP6_uc003swy.2_Missense_Mutation_p.E281Q|MPP6_uc010kur.2_5'Flank	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	281	SH3.				protein complex assembly		protein binding				0						GTTCCTGGAAGAGAAGAGAAA	0.423		NaN											0	0	0	0.003163	0	12	64				
CREB5	9586	broad.mit.edu	37	7	28534602	28534602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:28534602G>C	uc003szq.2	+	3	544	c.154G>C	c.(154-156)GAC>CAC	p.D52H	CREB5_uc003szo.2_Missense_Mutation_p.D19H|CREB5_uc003szr.2_Missense_Mutation_p.D45H	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	52					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AATAAAAACAGACAATATGTT	0.408		NaN											0	0	0	0.003954	0	23	42				
PLEKHA8	84725	broad.mit.edu	37	7	30102287	30102287	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:30102287G>C	uc003tam.1	+	12	1321	c.1230_splice	c.e12-1	p.R410_splice	PLEKHA8_uc003tao.2_Splice_Site_p.R294_splice|PLEKHA8_uc003tap.1_Splice_Site_p.R410_splice|PLEKHA8_uc003tan.2_Splice_Site_p.R410_splice	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A						protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						TTTTGTTTTAGAGGTCTCAAA	0.328		NaN											0	0	0	0.013537	0	11	39				
BBS9	27241	broad.mit.edu	37	7	33185904	33185904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:33185904C>G	uc003tdn.1	+	2	553	c.40C>G	c.(40-42)CTG>GTG	p.L14V	BBS9_uc003tdo.1_Missense_Mutation_p.L14V|BBS9_uc003tdp.1_Missense_Mutation_p.L14V|BBS9_uc003tdq.1_Missense_Mutation_p.L14V|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.L14V	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	14					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GTCTACTATTCTGGGAGATAA	0.333		NaN							Bardet-Biedl_syndrome				0	0	0	0.009718	0	36	100				
ADCY1	107	broad.mit.edu	37	7	45743204	45743204	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:45743204C>G	uc003tne.3	+	16	2595	c.2577C>G	c.(2575-2577)CTC>CTG	p.L859L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	859	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCAGGACCTCTACTACCAGT	0.582		NaN											0	0	0	0.003954	0	24	70				
ZNF479	90827	broad.mit.edu	37	7	57188109	57188109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:57188109G>A	uc010kzo.2	-	5	1284	c.1013C>T	c.(1012-1014)TCA>TTA	p.S338L		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTAAGGTTTGAGGACCAGCT	0.453		NaN											0	0	0	0.004007	0	10	42				
HGF	3082	broad.mit.edu	37	7	81346648	81346648	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:81346648C>G	uc003uhl.2	-	11	1470	c.1305G>C	c.(1303-1305)CTG>CTC	p.L435L	HGF_uc003uhm.2_Silent_p.L430L	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	435	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AATTCTCATTCAGCTTACTTG	0.438		NaN											0	0	0	0.01441	0	43	87				
PEX1	5189	broad.mit.edu	37	7	92143172	92143172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:92143172C>G	uc003uly.2	-	6	1445	c.1349G>C	c.(1348-1350)AGA>ACA	p.R450T	PEX1_uc011khr.1_Missense_Mutation_p.R242T|PEX1_uc010ley.2_Missense_Mutation_p.R450T|PEX1_uc011khs.1_Missense_Mutation_p.R128T|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	450					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATTCTCTCTAGGTTGTAA	0.328		NaN											0	0	0	0.013726	0	29	77				
ZNF394	84124	broad.mit.edu	37	7	99091818	99091818	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:99091818G>T	uc003uqs.2	-	3	1181	c.1020C>A	c.(1018-1020)TTC>TTA	p.F340L	ZNF394_uc003uqt.2_Missense_Mutation_p.F133L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAATGATGGAAACTGTCTC	0.483		NaN											1	0	9.78485e-24	0.013726	1.13186e-23	31	88				
MUC17	140453	broad.mit.edu	37	7	100679360	100679360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:100679360C>G	uc003uxp.1	+	3	4716	c.4663C>G	c.(4663-4665)CCT>GCT	p.P1555A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1555	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.493		NaN											0	0	0	0.01441	0	70	437				
MUC17	140453	broad.mit.edu	37	7	100679868	100679868	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:100679868C>G	uc003uxp.1	+	3	5224	c.5171C>G	c.(5170-5172)TCT>TGT	p.S1724C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1724	Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTGAAGCC	0.478		NaN											0	0	0	0.01441	0	79	512				
CUX1	1523	broad.mit.edu	37	7	101923386	101923386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:101923386G>C	uc003uyt.2	+	19	1757	c.1738G>C	c.(1738-1740)GAC>CAC	p.D580H	CUX1_uc011kkn.1_Missense_Mutation_p.D541H|CUX1_uc003uyw.2_Missense_Mutation_p.D534H|CUX1_uc003uyv.2_Missense_Mutation_p.D564H|CUX1_uc003uyu.2_Missense_Mutation_p.D578H|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GGAGCGCCTGGACCCCTTCTC	0.662		NaN											0	0	0	0.004656	0	22	56				
KCND2	3751	broad.mit.edu	37	7	120385895	120385895	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:120385895A>G	uc003vjj.1	+	5	2494	c.1529A>G	c.(1528-1530)AAT>AGT	p.N510S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	510	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GCAACTGTTAATCGTCCTTCA	0.438		NaN											0	0	0	0.008361	0	27	51				
TSGA13	114960	broad.mit.edu	37	7	130353957	130353957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:130353957G>T	uc003vqi.2	-	8	1182	c.725C>A	c.(724-726)TCG>TAG	p.S242*	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Nonsense_Mutation_p.S242*	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	242										ovary(2)	2	Melanoma(18;0.0435)					TTCCAAGAGCGATGCGAGTGT	0.582		NaN											1	0	3.86903e-22	0.013726	4.46662e-22	32	72				
TBXAS1	6916	broad.mit.edu	37	7	139706905	139706905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:139706905C>G	uc011kqv.1	+	11	1454	c.1290C>G	c.(1288-1290)TTC>TTG	p.F430L	TBXAS1_uc003vvh.2_Missense_Mutation_p.F384L|TBXAS1_uc010lne.2_Missense_Mutation_p.F316L|TBXAS1_uc011kqu.1_Missense_Mutation_p.F335L|TBXAS1_uc003vvi.2_Missense_Mutation_p.F384L|TBXAS1_uc003vvj.2_Missense_Mutation_p.F384L|TBXAS1_uc011kqw.1_Missense_Mutation_p.F364L	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	383	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					CCCCTGAGTTCTGCAGCCTCG	0.532		NaN											0	0	0	0.01441	0	60	133				
OR2A25	392138	broad.mit.edu	37	7	143771967	143771967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:143771967C>T	uc011ktx.1	+	1	655	c.655C>T	c.(655-657)CAT>TAT	p.H219Y		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					ATCTTATGTTCATATTCTATG	0.483		NaN											0	0	0	0.003954	0	25	60				
ZNF777	27153	broad.mit.edu	37	7	149129883	149129883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:149129883C>G	uc003wfv.2	-	6	1643	c.1480G>C	c.(1480-1482)GAG>CAG	p.E494Q		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGACATCTCCCCGGGCAGC	0.602		NaN											0	0	0	0.004482	0	7	27				
MLL3	58508	broad.mit.edu	37	7	151945439	151945439	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:151945439G>A	uc003wla.2	-	14	2299	c.2080C>T	c.(2080-2082)CTT>TTT	p.L694F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	694					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTAGTGGAAGAGTGACAGAT	0.423		NaN	N		medulloblastoma								0	0	0	0.000602	0	5	40		Valid		
DOK2	9046	broad.mit.edu	37	8	21767094	21767094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:21767094G>C	uc003wzy.1	-	5	1060	c.967C>G	c.(967-969)CAG>GAG	p.Q323E	DOK2_uc003wzx.1_Missense_Mutation_p.Q323E|DOK2_uc003wzz.1_Missense_Mutation_p.Q169E|DOK2_uc010lth.1_Missense_Mutation_p.Q169E	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	323	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCAGGAGCTGAGGAGGGACT	0.647		NaN											0	0	0	0.012213	0	30	43				
PEBP4	157310	broad.mit.edu	37	8	22570973	22570973	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:22570973C>G	uc003xcn.1	-	7	686	c.594G>C	c.(592-594)CAG>CAC	p.Q198H		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	198						lysosome				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CCTGGTAGTTCTGGGTCATGA	0.557		NaN											0	0	0	0.00308	0	8	18				
PUF60	22827	broad.mit.edu	37	8	144899273	144899273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144899273G>A	uc003yzs.2	-	11	1251	c.1187C>T	c.(1186-1188)TCG>TTG	p.S396L	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	396	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTCCCACCGAGGGGATGGT	0.612		NaN											0	0	0	0.00308	0	5	32				
NRBP2	340371	broad.mit.edu	37	8	144921499	144921499	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144921499G>C	uc011lkt.1	-	6	707	c.567C>G	c.(565-567)ATC>ATG	p.I189M	NRBP2_uc003yzv.2_Translation_Start_Site|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Translation_Start_Site|NRBP2_uc011lks.1_Translation_Start_Site|NRBP2_uc003yzy.2_Translation_Start_Site	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	189	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCCGATCTTGATGAGGCCGT	0.657		NaN											0	0	0	0.009096	0	3	28				
PLEC	5339	broad.mit.edu	37	8	144999683	144999683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:144999683C>T	uc003zaf.1	-	31	4995	c.4825G>A	c.(4825-4827)GAG>AAG	p.E1609K	PLEC_uc003zab.1_Missense_Mutation_p.E1472K|PLEC_uc003zac.1_Missense_Mutation_p.E1476K|PLEC_uc003zad.2_Missense_Mutation_p.E1472K|PLEC_uc003zae.1_Missense_Mutation_p.E1440K|PLEC_uc003zag.1_Missense_Mutation_p.E1450K|PLEC_uc003zah.2_Missense_Mutation_p.E1458K|PLEC_uc003zaj.2_Missense_Mutation_p.E1499K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1609	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTCCCCCTCAGCCCCGCCA	0.721		NaN											0	0	0	0.001168	0	5	25				
HSF1	3297	broad.mit.edu	37	8	145533476	145533476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr8:145533476G>A	uc003zbt.3	+	4	552	c.382G>A	c.(382-384)GAA>AAA	p.E128K	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	128						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGAAGAGTGAAGACATAAA	0.602		NaN											0	0	0	0.00278	0	16	152				
GLDC	2731	broad.mit.edu	37	9	6540106	6540106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:6540106G>C	uc003zkc.2	-	22	2803	c.2610C>G	c.(2608-2610)TTC>TTG	p.F870L		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	870					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGACTTTTTGAAGGGTCTCG	0.448		NaN											0	0	0	0.010504	0	19	90				
C9orf93	203238	broad.mit.edu	37	9	15623317	15623317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:15623317C>G	uc003zmd.2	+	7	1043	c.728C>G	c.(727-729)ACA>AGA	p.T243R	C9orf93_uc010mih.1_Missense_Mutation_p.T243R|C9orf93_uc003zme.2_Missense_Mutation_p.T150R|C9orf93_uc011lmu.1_Missense_Mutation_p.T243R|C9orf93_uc003zmc.2_Missense_Mutation_p.T243R	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	243	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AAATTAGAAACAGAACATATG	0.348		NaN											0	0	0	0.006122	0	15	72				
SLC24A2	25769	broad.mit.edu	37	9	19521029	19521029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:19521029C>G	uc003zoa.1	-	9	1661	c.1599G>C	c.(1597-1599)GAG>GAC	p.E533D	SLC24A2_uc003zob.1_Missense_Mutation_p.E516D	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	533	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCCCATAATCTCTTCACTGA	0.448		NaN											0	0	0	0.007413	0	14	17				
ALDH1A1	216	broad.mit.edu	37	9	75540481	75540481	+	Silent	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:75540481C>G	uc004ajd.2	-	6	605	c.552G>C	c.(550-552)CTG>CTC	p.L184L	ALDH1A1_uc011lsh.1_Silent_p.L105L|ALDH1A1_uc011lsg.1_Silent_p.L10L	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	184					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCACAGCTCAGTGCAGGCC	0.423		NaN											0	0	0	0.004656	0	24	30				
PRUNE2	158471	broad.mit.edu	37	9	79318656	79318656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:79318656C>T	uc010mpk.2	-	9	7997	c.7873G>A	c.(7873-7875)GAA>AAA	p.E2625K	PRUNE2_uc004akj.3_Missense_Mutation_p.E78K|PRUNE2_uc010mpl.1_Missense_Mutation_p.E78K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2625					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GCAGGGCTTTCAAAAGATGAT	0.493		NaN											0	0	0	0.004672	0	3	9				
S1PR3	1903	broad.mit.edu	37	9	91617099	91617099	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:91617099C>T	uc004aqe.2	+	2	1380	c.984C>T	c.(982-984)ATC>ATT	p.I328I		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	328	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						CCTCACCCATCCAGCCTGCGC	0.627		NaN											0	0	0	0.012319	0	18	27				
FAM129B	64855	broad.mit.edu	37	9	130269539	130269539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:130269539G>A	uc004brh.2	-	14	2028	c.1826C>T	c.(1825-1827)TCA>TTA	p.S609L	FAM129B_uc004bri.2_Missense_Mutation_p.S596L|FAM129B_uc004brj.3_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	609							protein binding				0						GAGGGTGGCTGACTCCGGGGT	0.697		NaN											0	0	0	0.006122	0	15	12				
GOLGA2	2801	broad.mit.edu	37	9	131028091	131028091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:131028091G>A	uc011maw.1	-	10	734	c.721C>T	c.(721-723)CAG>TAG	p.Q241*	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Nonsense_Mutation_p.Q142*|GOLGA2_uc004bum.1_Nonsense_Mutation_p.Q115*	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	241	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						GCAGCATGCTGAGTGTGAGCC	0.532		NaN											0	0	0	0.007291	0	22	54				
KCNT1	57582	broad.mit.edu	37	9	138650273	138650273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:138650273G>A	uc011mdq.1	+	10	847	c.773G>A	c.(772-774)CGT>CAT	p.R258H	KCNT1_uc011mdr.1_Missense_Mutation_p.R85H|KCNT1_uc010nbf.2_Missense_Mutation_p.R210H|KCNT1_uc004cgo.1_Missense_Mutation_p.R7H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	258						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GACTTCCACCGTGCCATCCTG	0.587		NaN											0	0	0	0.014323	0	17	81				
INPP5E	56623	broad.mit.edu	37	9	139326391	139326391	+	Silent	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:139326391G>A	uc004cho.2	-	7	1819	c.1434C>T	c.(1432-1434)TTC>TTT	p.F478F	INPP5E_uc010nbm.2_Silent_p.F477F	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	478						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGCGGAAGTTGAAGTCTCCAA	0.667		NaN											0	0	0	0.008361	0	22	23				
GRIN1	2902	broad.mit.edu	37	9	140051206	140051206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140051206G>A	uc004clk.2	+	5	1087	c.757G>A	c.(757-759)GAG>AAG	p.E253K	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E250K|GRIN1_uc004cll.2_Missense_Mutation_p.E253K|GRIN1_uc004clm.2_Missense_Mutation_p.E253K|GRIN1_uc004cln.2_Missense_Mutation_p.E271K|GRIN1_uc004clo.2_Missense_Mutation_p.E271K	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	253	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGGCGAGCGCGAGATCTCGGG	0.697		NaN											0	0	0	0.001984	0	6	3				
GRIN1	2902	broad.mit.edu	37	9	140051368	140051368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140051368G>A	uc004clk.2	+	6	1177	c.847G>A	c.(847-849)GAC>AAC	p.D283N	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.D280N|GRIN1_uc004cll.2_Missense_Mutation_p.D283N|GRIN1_uc004clm.2_Missense_Mutation_p.D283N|GRIN1_uc004cln.2_Missense_Mutation_p.D301N|GRIN1_uc004clo.2_Missense_Mutation_p.D301N	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	283	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCACATCAGCGACGCCGTGGG	0.672		NaN											0	0	0	0.00308	0	7	3				
MRPL41	64975	broad.mit.edu	37	9	140446562	140446562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140446562G>A	uc004cnh.3	+	2	159	c.29G>A	c.(28-30)TGC>TAC	p.C10Y	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	10					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GCGGCGCGCTGCCTGGTCCGG	0.657		NaN											0	0	0	0.006214	0	7	9				
EHMT1	79813	broad.mit.edu	37	9	140729270	140729270	+	Silent	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr9:140729270C>T	uc011mfc.1	+	27	3799	c.3762C>T	c.(3760-3762)TTC>TTT	p.F1254F	EHMT1_uc004coe.2_Silent_p.F159F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1254					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCAAGCTCTTCAGCTGCCGCT	0.672		NaN											0	0	0	0.00499	0	14	16				
STS	412	broad.mit.edu	37	X	7268167	7268167	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:7268167G>C	uc004cry.3	+	10	1862	c.1617G>C	c.(1615-1617)CAG>CAC	p.Q539H		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	539	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GACACACCCAGACCCTGCCAG	0.542		NaN							Ichthyosis				0	0	0	0.00632	0	21	14				
TLR8	51311	broad.mit.edu	37	X	12938248	12938248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:12938248C>G	uc004cve.2	+	2	1157	c.1089C>G	c.(1087-1089)TTC>TTG	p.F363L	TLR8_uc004cvd.2_Missense_Mutation_p.F381L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	363	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CCAGAAACTTCTCTAAACTTT	0.393		NaN											0	0	0	0.007291	0	26	43				
TLR8	51311	broad.mit.edu	37	X	12938564	12938564	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:12938564C>G	uc004cve.2	+	2	1473	c.1405C>G	c.(1405-1407)CAT>GAT	p.H469D	TLR8_uc004cvd.2_Missense_Mutation_p.H487D	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	469	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						GAACTTTTATCATTTCACCCG	0.398		NaN											0	0	0	0.008361	0	22	38				
FIGF	2277	broad.mit.edu	37	X	15371214	15371214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:15371214C>T	uc004cwt.1	-	5	1227	c.718G>A	c.(718-720)GAA>AAA	p.E240K		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	240	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					AGTGGATTTTCCTCCTGCAAA	0.264		NaN											0	0	0	0.008871	0	14	35				
CXorf23	256643	broad.mit.edu	37	X	19973576	19973576	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:19973576C>G	uc004czp.2	-	4	1383	c.1383G>C	c.(1381-1383)CAG>CAC	p.Q461H	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.Q26H|CXorf23_uc004czo.2_Missense_Mutation_p.Q411H	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	461						mitochondrion				lung(1)|skin(1)	2						TTTCAGTATTCTGAGTTGAGT	0.378		NaN											0	0	0	0.003163	0	12	29				
MAGEB1	4112	broad.mit.edu	37	X	30269617	30269617	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:30269617C>G	uc004dcc.2	+	4	1327	c.1007C>G	c.(1006-1008)TCT>TGT	p.S336C	MAGEB1_uc004dcd.2_Missense_Mutation_p.S336C|MAGEB1_uc004dce.2_Missense_Mutation_p.S336C	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	336											0						AGAGCGCGTTCTAGAGCCCCA	0.507		NaN											0	0	0	0.00632	0	24	14				
PRICKLE3	4007	broad.mit.edu	37	X	49040229	49040229	+	Silent	SNP	C	C	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:49040229C>A	uc004dmy.1	-	3	296	c.270G>T	c.(268-270)TCG>TCT	p.S90S	PRICKLE3_uc011mmv.1_Silent_p.S22S|PRICKLE3_uc011mmw.1_Silent_p.S22S|PRICKLE3_uc011mmx.1_Silent_p.S90S|PRICKLE3_uc011mmy.1_Silent_p.S90S	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	90	PET.						protein binding|zinc ion binding			breast(1)	1						CATACTCCTCCGATGCACAGC	0.617		NaN											1	0	4.74835e-14	0.010818	5.21335e-14	23	10				
PRICKLE3	4007	broad.mit.edu	37	X	49040246	49040246	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:49040246C>G	uc004dmy.1	-	3	279	c.253G>C	c.(253-255)GAC>CAC	p.D85H	PRICKLE3_uc011mmv.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmw.1_Missense_Mutation_p.D17H|PRICKLE3_uc011mmx.1_Missense_Mutation_p.D85H|PRICKLE3_uc011mmy.1_Missense_Mutation_p.D85H	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	85	PET.						protein binding|zinc ion binding			breast(1)	1						CAGCCTGAGTCGTCGTCGGAG	0.642		NaN											0	0	0	0.00623	0	30	15				
FAM199X	139231	broad.mit.edu	37	X	103411483	103411483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:103411483C>T	uc004elw.2	+	1	183	c.17C>T	c.(16-18)TCG>TTG	p.S6L		NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	6										ovary(1)	1						GACGAGGCCTCGGCCATCACT	0.701		NaN											0	0	0	0.001168	0	5	1				
RGAG1	57529	broad.mit.edu	37	X	109695851	109695851	+	Missense_Mutation	SNP	C	C	T	rs148619359		TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:109695851C>T	uc004eor.1	+	3	2252	c.2006C>T	c.(2005-2007)TCG>TTG	p.S669L	RGAG1_uc011msr.1_Missense_Mutation_p.S669L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	669										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TTGTCTGCATCGCTAATGAGA	0.512		NaN											0	0	0	0.00245	0	13	32				
FAM70A	55026	broad.mit.edu	37	X	119402108	119402108	+	Silent	SNP	A	A	G			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:119402108A>G	uc004eso.3	-	9	1109	c.882T>C	c.(880-882)TAT>TAC	p.Y294Y	FAM70A_uc004esp.3_Silent_p.Y270Y|FAM70A_uc010nqo.2_Silent_p.Y186Y	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	294	Pro-rich.					integral to membrane				lung(1)|breast(1)	2						CCTGAAAGTCATAAGCAGAAT	0.413		NaN											0	0	0	0.01441	0	75	45				
CETN2	1069	broad.mit.edu	37	X	151996453	151996453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:151996453G>A	uc004fgq.2	-	5	498	c.451C>T	c.(451-453)CGA>TGA	p.R151*	CETN2_uc004fgr.2_Nonsense_Mutation_p.R80*	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	151	2.|EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCATCTCGATCAGCTTCA	0.358		NaN						Direct_reversal_of_damage|NER					0	0	0	0.007291	0	22	74				
NSDHL	50814	broad.mit.edu	37	X	152014895	152014895	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:152014895G>A	uc004fgt.1	+	3	288	c.27G>A	c.(25-27)ATG>ATA	p.M9I	NSDHL_uc004fgs.1_Missense_Mutation_p.M9I	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	9					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCGAGCCAATGAGAGACCAAG	0.408		NaN											0	0	0	0.009718	0	31	33				
HCFC1	3054	broad.mit.edu	37	X	153229678	153229678	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrX:153229678G>C	uc004fjp.2	-	3	928	c.400C>G	c.(400-402)CCG>GCG	p.P134A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	134	Kelch 2.			P->S: Eliminates VIC formation and association with VP16. Weak association with POU2F1. Unable to associate with CREBZF and BAP1. Unable to rescue proliferation in temperature-sensitive arrested cells.	cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGACACGGAGGGGGCCCG	0.562		NaN											0	0	0	0.01441	0	56	38				
USP9Y	8287	broad.mit.edu	37	Y	14898191	14898191	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chrY:14898191G>T	uc004fst.1	+	23	4151	c.3206G>T	c.(3205-3207)GGA>GTA	p.G1069V	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1069					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						GCAAAACTTGGAGAAGGCAAA	0.398		NaN											1	0	1.02788e-11	0.00499	1.10564e-11	14	51				
TAS1R3	83756	broad.mit.edu	37	1	1267276	1267276	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1267276C>T	uc010nyk.1	+	2	450	c.450C>T	c.(448-450)GCC>GCT	p.A150A		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	150	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CAGAGCTCGCCATGGTCACCG	0.677		NaN											0	0	0	0.012319	0	17	61				
GNB1	2782	broad.mit.edu	37	1	1749278	1749278	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1749278G>T	uc001aif.2	-	4	426	c.94C>A	c.(94-96)CAG>AAG	p.Q32K	GNB1_uc009vky.2_Intron	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	32					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTCTTACCTGAGAGAGAGTT	0.547		NaN											1	0	0.00909568	0.009096	0.00928131	3	58				
ICMT	23463	broad.mit.edu	37	1	6293642	6293642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:6293642G>A	uc001amk.2	-	3	419	c.346C>T	c.(346-348)CCC>TCC	p.P116S	ICMT_uc001aml.2_Missense_Mutation_p.P20S	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	116					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGACTTTTGGGATTATTGACT	0.398		NaN											0	0	0	0.001984	0	6	74				
SPEN	23013	broad.mit.edu	37	1	16262633	16262633	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:16262633G>T	uc001axk.1	+	11	10102	c.9898G>T	c.(9898-9900)GGG>TGG	p.G3300W	SPEN_uc010obp.1_Missense_Mutation_p.G3259W	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3300	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCACTCCAGCGGGGAGCTGTT	0.627		NaN											1	0	5.3912e-06	0.006122	5.72517e-06	17	162				
UBR4	23352	broad.mit.edu	37	1	19454159	19454159	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:19454159G>A	uc001bbi.2	-	63	9190	c.9186C>T	c.(9184-9186)TTC>TTT	p.F3062F	UBR4_uc001bbk.1_Silent_p.F709F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3062					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCGGGACATGAAGACACTCA	0.488		NaN											0	0	0	0.008291	0	10	102				
EIF4G3	8672	broad.mit.edu	37	1	21154159	21154159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:21154159C>G	uc001bec.2	-	27	4308	c.4052G>C	c.(4051-4053)AGA>ACA	p.R1351T	EIF4G3_uc010odi.1_Missense_Mutation_p.R955T|EIF4G3_uc010odj.1_Missense_Mutation_p.R1350T|EIF4G3_uc009vpz.2_Missense_Mutation_p.R1071T|EIF4G3_uc001bed.2_Missense_Mutation_p.R1351T|EIF4G3_uc001bef.2_Missense_Mutation_p.R1387T|EIF4G3_uc001bee.2_Missense_Mutation_p.R1357T	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1351					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GACCCCAGCTCTTCCAACAGG	0.388		NaN											0	0	0	0.009096	0	3	55				
MYOM3	127294	broad.mit.edu	37	1	24418668	24418668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:24418668C>T	uc001bin.3	-	11	1391	c.1228G>A	c.(1228-1230)GAG>AAG	p.E410K	MYOM3_uc001bim.3_Missense_Mutation_p.E67K|MYOM3_uc001bio.2_Missense_Mutation_p.E410K|MYOM3_uc001bip.1_Missense_Mutation_p.E67K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	410	Fibronectin type-III 1.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACTCACCGCTCAATGGTGTAG	0.602		NaN											0	0	0	0.00245	0	10	75				
PTPRF	5792	broad.mit.edu	37	1	44072610	44072610	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44072610C>G	uc001cjr.2	+	21	4168	c.3828C>G	c.(3826-3828)CTC>CTG	p.L1276L	PTPRF_uc001cjs.2_Silent_p.L1267L|PTPRF_uc001cju.2_Silent_p.L654L|PTPRF_uc009vwt.2_Silent_p.L836L|PTPRF_uc001cjv.2_Silent_p.L736L|PTPRF_uc001cjw.2_Silent_p.L502L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1276	Helical; (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCATCATCCTCATTGTCATCG	0.622		NaN											0	0	0	0.010729	0	10	128				
IPO13	9670	broad.mit.edu	37	1	44426671	44426671	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44426671G>C	uc001ckx.2	+	13	3028	c.2233G>C	c.(2233-2235)GAC>CAC	p.D745H		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	745	HEAT 13.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCTGCTCTTGACCTCACTCG	0.617		NaN											0	0	0	0.001168	0	6	60				
ATP6V0B	533	broad.mit.edu	37	1	44442265	44442265	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44442265C>T	uc001cld.2	+	5	393	c.282C>T	c.(280-282)ATC>ATT	p.I94I	ATP6V0B_uc001clc.2_Silent_p.I94I|ATP6V0B_uc001cle.2_Silent_p.I47I|ATP6V0B_uc001clf.2_Silent_p.I47I|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	94	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTACCAGCATCATCTTCTGTG	0.502		NaN											0	0	0	0.008291	0	8	88				
LRRC40	55631	broad.mit.edu	37	1	70618118	70618118	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:70618118G>C	uc001der.1	-	12	1489	c.1437C>G	c.(1435-1437)CTC>CTG	p.L479L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	479	LRR 16.									ovary(1)	1						ATAAATACCTGAGATCTAAAA	0.294		NaN											0	0	0	0.001168	0	4	33				
TGFBR3	7049	broad.mit.edu	37	1	92185617	92185617	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:92185617C>T	uc001doh.2	-	9	1712	c.1246G>A	c.(1246-1248)GAG>AAG	p.E416K	TGFBR3_uc009wde.2_Missense_Mutation_p.E193K|TGFBR3_uc010osy.1_Missense_Mutation_p.E374K|TGFBR3_uc001doi.2_Missense_Mutation_p.E415K|TGFBR3_uc001doj.2_Missense_Mutation_p.E415K	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	416	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTTCTCCCTCTTCATTCCAG	0.577		NaN											0	0	0	0.001984	0	7	84				
VAV3	10451	broad.mit.edu	37	1	108417594	108417594	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:108417594C>T	uc001dvk.1	-	2	304	c.250G>A	c.(250-252)GAG>AAG	p.E84K	VAV3_uc010ouw.1_Missense_Mutation_p.E84K|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E84K	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	84	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCAAACGTCTCACAACAGGCC	0.358		NaN											0	0	0	0.004482	0	7	54				
AKNAD1	254268	broad.mit.edu	37	1	109366068	109366068	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:109366068C>T	uc001dwa.2	-	13	2360	c.2091G>A	c.(2089-2091)CAG>CAA	p.Q697Q	AKNAD1_uc010ovb.1_Silent_p.Q404Q|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	697										ovary(3)	3						TTGAGTAATTCTGTCCTGGAG	0.408		NaN											0	0	0	0.00308	0	7	70				
KCND3	3752	broad.mit.edu	37	1	112524975	112524975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:112524975G>A	uc001ebu.1	-	2	854	c.374C>T	c.(373-375)CCG>CTG	p.P125L	KCND3_uc001ebv.1_Missense_Mutation_p.P125L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	125	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GATGATCTCCGGGAGGATGCC	0.617		NaN											0	0	0	0.006214	0	9	103				
SLC16A1	6566	broad.mit.edu	37	1	113459918	113459918	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:113459918G>C	uc001ecx.2	-	4	1942	c.1110C>G	c.(1108-1110)CTC>CTG	p.L370L	SLC16A1_uc001ecy.2_Silent_p.L370L|SLC16A1_uc001ecz.2_Silent_p.L370L	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	370	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATACGGAGCTGAGCCACCCGA	0.488		NaN											0	0	0	0.009096	0	3	51				
MAGI3	260425	broad.mit.edu	37	1	114226103	114226103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114226103G>A	uc001edk.2	+	21	4094	c.3913G>A	c.(3913-3915)GAG>AAG	p.E1305K	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1330					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAAATGCTGAGGCCAAATT	0.478		NaN											0	0	0	0.00308	0	7	94				
PTPN22	26191	broad.mit.edu	37	1	114380651	114380651	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380651C>T	uc001eds.2	-	13	1501	c.1371G>A	c.(1369-1371)CAG>CAA	p.Q457Q	PTPN22_uc009wgq.2_Silent_p.Q402Q|PTPN22_uc010owo.1_Silent_p.Q213Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.Q457Q|PTPN22_uc009wgs.2_Silent_p.Q330Q|PTPN22_uc001edu.2_Silent_p.Q457Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	457					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTTTCTCTCTGCTGTATCA	0.373		NaN											0	0	0	0.008291	0	8	90				
PTPN22	26191	broad.mit.edu	37	1	114380755	114380755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380755C>G	uc001eds.2	-	13	1397	c.1267G>C	c.(1267-1269)GAG>CAG	p.E423Q	PTPN22_uc009wgq.2_Missense_Mutation_p.E368Q|PTPN22_uc010owo.1_Missense_Mutation_p.E179Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E423Q|PTPN22_uc009wgs.2_Missense_Mutation_p.E296Q|PTPN22_uc001edu.2_Missense_Mutation_p.E423Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	423					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACATCCCTCAAACAAAAGA	0.388		NaN											0	0	0	0.004482	0	5	63				
PTGFRN	5738	broad.mit.edu	37	1	117504176	117504176	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:117504176G>C	uc001egv.1	+	5	1662	c.1525G>C	c.(1525-1527)GAC>CAC	p.D509H		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	509	Extracellular (Potential).|Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACAGAGGAAGACAGAGGCAA	0.463		NaN											0	0	0	0.001984	0	6	89				
MAN1A2	10905	broad.mit.edu	37	1	118039474	118039474	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:118039474G>A	uc001ehd.1	+	10	2095	c.1374G>A	c.(1372-1374)GGG>GGA	p.G458G	MAN1A2_uc009whg.1_Silent_p.G248G	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	458	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAAAGATGGGGCATTTGGCCT	0.438		NaN											0	0	0	0.00499	0	15	118				
HAO2	51179	broad.mit.edu	37	1	119936422	119936422	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:119936422G>T	uc001ehq.1	+	9	1367	c.1015G>T	c.(1015-1017)GCT>TCT	p.A339S	HAO2_uc001ehr.1_Missense_Mutation_p.A339S	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	339	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCGGTCGGTCGCTGAGATCAA	0.478		NaN											1	0	0.000151284	0.001855	0.000157588	11	168				
NBPF9	400818	broad.mit.edu	37	1	144617158	144617158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:144617158G>T	uc009wig.1	+	5	260	c.184G>T	c.(184-186)GAG>TAG	p.E62*	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_Intron|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	62						cytoplasm					0						AGAGTATGAAGAGTGTAAAGA	0.527		NaN											1	0	0.000958276	0.007413	0.000986218	15	157				
PDE4DIP	9659	broad.mit.edu	37	1	144871824	144871824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:144871824G>A	uc001elw.3	-	32	5429	c.5138C>T	c.(5137-5139)TCA>TTA	p.S1713L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S720L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1713					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGATGGAGCTGAGGGCAATGG	0.532		NaN	T	PDGFRB	MPD								0	0	0	0.00308	0	6	114				
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A	rs149230481		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:150483939G>A	uc001eus.2	+	7	914	c.715G>A	c.(715-717)GAA>AAA	p.E239K	ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	239	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597		NaN											0	0	0	0.010818	0	26	177				
FLG2	388698	broad.mit.edu	37	1	152324512	152324512	+	Missense_Mutation	SNP	T	T	C	rs150834303		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:152324512T>C	uc001ezw.3	-	3	5823	c.5750A>G	c.(5749-5751)AAG>AGG	p.K1917R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGTGTCTCTTGTGAACTGT	0.502		NaN											0	0	0	0.010504	0	19	269				
INTS3	65123	broad.mit.edu	37	1	153701122	153701122	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701122G>A	uc009wom.2	+	2	233	c.12G>A	c.(10-12)CAG>CAA	p.Q4Q	INTS3_uc001fct.2_Silent_p.Q4Q|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	4					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGAGTTGCAGAAGGGAAAAG	0.448		NaN											0	0	0	0.006214	0	8	68				
INTS3	65123	broad.mit.edu	37	1	153701160	153701160	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701160G>T	uc009wom.2	+	2	271	c.50G>T	c.(49-51)GGA>GTA	p.G17V	INTS3_uc001fct.2_Missense_Mutation_p.G17V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	17	Ala/Gly-rich.				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGCTTCGggagcagcggga	0.423		NaN											1	0	1.58986e-06	0.008291	1.70343e-06	8	47				
GATAD2B	57459	broad.mit.edu	37	1	153784519	153784519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153784519C>T	uc001fdb.3	-	9	1753	c.1509G>A	c.(1507-1509)ATG>ATA	p.M503I		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	503						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATGATGTCTCATGATGGTCT	0.458		NaN											0	0	0	0.003163	0	9	155				
AQP10	89872	broad.mit.edu	37	1	154296214	154296214	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:154296214C>T	uc001feu.2	+	5	679	c.639C>T	c.(637-639)CTC>CTT	p.L213L	AQP10_uc001fev.2_Silent_p.L213L|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	213	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGATTCCACTCAACCCTGCCC	0.642		NaN											0	0	0	0.00308	0	6	71				
DAP3	7818	broad.mit.edu	37	1	155695260	155695260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:155695260C>G	uc001flq.2	+	5	527	c.358C>G	c.(358-360)CCA>GCA	p.P120A	DAP3_uc001flr.2_Missense_Mutation_p.P120A|DAP3_uc001fls.2_Missense_Mutation_p.P120A|DAP3_uc010pgl.1_Missense_Mutation_p.P79A|DAP3_uc001flt.2_Missense_Mutation_p.P86A|DAP3_uc001flu.2_Missense_Mutation_p.P120A|DAP3_uc010pgm.1_Missense_Mutation_p.P86A	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	120					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTTTGCTTATCCAGCTATACG	0.428		NaN											0	0	0	0.009535	0	25	160				
PMF1	11243	broad.mit.edu	37	1	156182917	156182917	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156182917C>T	uc001fnq.2	+	1	134	c.111C>T	c.(109-111)CTC>CTT	p.L37L	PMF1_uc009wru.1_RNA|PMF1_uc001fnr.2_Silent_p.L37L|BGLAP_uc001fns.1_Silent_p.L37L	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	37					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					GGGTGAAGCTCCTCGACACCA	0.577		NaN											0	0	0	0.00308	0	5	52				
BCAN	63827	broad.mit.edu	37	1	156618580	156618580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156618580G>C	uc001fpp.2	+	6	1326	c.990G>C	c.(988-990)AAG>AAC	p.K330N	BCAN_uc001fpo.2_Missense_Mutation_p.K330N	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	330	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGTGTCAAGACTCTCTTCC	0.617		NaN											0	0	0	0.003954	0	21	209				
OR10R2	343406	broad.mit.edu	37	1	158450115	158450115	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158450115C>T	uc010pik.1	+	1	448	c.448C>T	c.(448-450)CTG>TTG	p.L150L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	150	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TTGTCACCCTCTGCATTACCC	0.468		NaN											0	0	0	0.01441	0	53	246				
OR6N2	81442	broad.mit.edu	37	1	158747170	158747170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158747170G>A	uc010pir.1	-	1	256	c.256C>T	c.(256-258)CTC>TTC	p.L86F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TTCTCACTGAGAATATTAGAC	0.453		NaN											0	0	0	0.006214	0	9	146				
AIM2	9447	broad.mit.edu	37	1	159035904	159035904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159035904C>G	uc001ftj.1	-	4	857	c.612G>C	c.(610-612)AAG>AAC	p.K204N		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	204	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)					TAATTATTCTCTTTGGAATGA	0.358		NaN											0	0	0	0.008291	0	11	81				
OR10J3	441911	broad.mit.edu	37	1	159284097	159284097	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159284097A>G	uc010piu.1	-	1	353	c.353T>C	c.(352-354)GTC>GCC	p.V118A		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					ATATCCCATGACTGTGAGCAG	0.522		NaN											0	0	0	0.013537	0	9	118				
VANGL2	57216	broad.mit.edu	37	1	160388962	160388962	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:160388962C>G	uc001fwb.1	+	5	662	c.363C>G	c.(361-363)CTC>CTG	p.L121L	VANGL2_uc001fwc.1_Silent_p.L121L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	121	Helical; Name=1; (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTTTCCTCACGCCTCTGG	0.662		NaN											0	0	0	0.00308	0	6	110				
C1orf111	284680	broad.mit.edu	37	1	162343919	162343919	+	Silent	SNP	G	G	A	rs144886006		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162343919G>A	uc001gbx.2	-	3	769	c.705C>T	c.(703-705)CTC>CTT	p.L235L		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	235										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TGCCGGAGGAGAGCCTGTCTC	0.552		NaN											0	0	0	0.010729	0	10	243				
UAP1	6675	broad.mit.edu	37	1	162549315	162549315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162549315C>T	uc001gce.3	+	4	912	c.583C>T	c.(583-585)CAG>TAG	p.Q195*		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	195					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AATCTTTTTTCAGCAAGGAAT	0.358		NaN											0	0	0	0.006214	0	9	68				
RXRG	6258	broad.mit.edu	37	1	165380319	165380319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:165380319C>T	uc001gda.2	-	5	950	c.650G>A	c.(649-651)CGA>CAA	p.R217Q		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	217	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	AGCTCGCTCTCGGCTCCTCTG	0.448		NaN											0	0	0	0.012319	0	19	57				
FMO3	2328	broad.mit.edu	37	1	171080103	171080103	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:171080103C>T	uc001ghi.2	+	6	903	c.792C>T	c.(790-792)TTC>TTT	p.F264F	FMO3_uc001ghh.2_Silent_p.F264F|FMO3_uc010pmb.1_Silent_p.F244F|FMO3_uc010pmc.1_Silent_p.F201F	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	264					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCAAGATTCAAGCATGAAA	0.443		NaN											0	0	0	0.004482	0	6	100				
CEP350	9857	broad.mit.edu	37	1	179989421	179989421	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:179989421A>C	uc001gnt.2	+	12	2895	c.2512A>C	c.(2512-2514)AGA>CGA	p.R838R	CEP350_uc009wxl.2_Silent_p.R837R|CEP350_uc001gnu.2_Silent_p.R672R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	838						centrosome|nucleus|spindle				ovary(4)	4						TTTGTCCAGCAGAATTGAAAG	0.443		NaN											0	0	0	0.014323	0	20	126				
HMCN1	83872	broad.mit.edu	37	1	185969231	185969231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:185969231G>A	uc001grq.1	+	26	4158	c.3929G>A	c.(3928-3930)AGA>AAA	p.R1310K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1310	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTGACAGGCAGAGAGCCTGGC	0.398		NaN											0	0	0	0.004007	0	12	81				
CFH	3075	broad.mit.edu	37	1	196697623	196697623	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:196697623G>C	uc001gtj.3	+	15	2624	c.2384G>C	c.(2383-2385)GGA>GCA	p.G795A		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	795	Sushi 13.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGCATAAATGGAAGATGGGAT	0.338		NaN											0	0	0	0.004482	0	6	85				
TNNI1	7135	broad.mit.edu	37	1	201383732	201383732	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:201383732C>T	uc010ppq.1	-	5	196	c.103G>A	c.(103-105)GAG>AAG	p.E35K	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E14K	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	35	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						TCGCGCTCCTCGTGCTCCTGC	0.662		NaN											0	0	0	0.001984	0	6	46				
DSTYK	25778	broad.mit.edu	37	1	205138805	205138805	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:205138805C>G	uc001hbw.2	-	3	874	c.810G>C	c.(808-810)AAG>AAC	p.K270N	DSTYK_uc001hbx.2_Missense_Mutation_p.K270N|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	270						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AGGAGAAATACTTTCGGATTT	0.448		NaN											0	0	0	0.009096	0	3	55				
RPS6KC1	26750	broad.mit.edu	37	1	213405500	213405500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:213405500G>C	uc010ptr.1	+	10	1286	c.1127G>C	c.(1126-1128)AGA>ACA	p.R376T	RPS6KC1_uc001hkd.2_Missense_Mutation_p.R364T|RPS6KC1_uc010pts.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R195T|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Missense_Mutation_p.R195T	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	376	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCAGGAACAGAAAGACCATC	0.413		NaN											0	0	0	0.008291	0	10	88				
KCTD3	51133	broad.mit.edu	37	1	215768802	215768802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:215768802C>G	uc001hks.2	+	10	1216	c.922C>G	c.(922-924)CAG>GAG	p.Q308E	KCTD3_uc001hkt.2_Missense_Mutation_p.Q308E|KCTD3_uc010pub.1_Missense_Mutation_p.Q206E|KCTD3_uc009xdn.2_Missense_Mutation_p.Q60E	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	308	WD 2.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGCTGTCACTCAGCACTGGCA	0.403		NaN											0	0	0	0.001168	0	6	64				
USH2A	7399	broad.mit.edu	37	1	216500943	216500943	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:216500943G>T	uc001hku.1	-	5	1225	c.838C>A	c.(838-840)CTT>ATT	p.L280I	USH2A_uc001hkv.2_Missense_Mutation_p.L280I	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	280	Laminin N-terminal.|Extracellular (Potential).		L -> F (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTTGTAAGTGCCACTTGG	0.343		NaN								HNSCC(13;0.011)			1	0	0.00010058	0.013537	0.000104953	11	109				
C1orf131	128061	broad.mit.edu	37	1	231364906	231364906	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:231364906T>A	uc001hun.1	-	3	537	c.500A>T	c.(499-501)AAC>ATC	p.N167I	C1orf131_uc001hul.2_Missense_Mutation_p.N167I|C1orf131_uc001hum.2_Missense_Mutation_p.N166I|C1orf131_uc010pwd.1_Missense_Mutation_p.N166I	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	167										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTTCTAGGTTAAATTCTTG	0.199		NaN											0	0	0	0.009096	0	3	38				
LYST	1130	broad.mit.edu	37	1	235969823	235969823	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:235969823G>A	uc001hxj.2	-	6	2788	c.2613C>T	c.(2611-2613)CTC>CTT	p.L871L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L871L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	871					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAATTTGCTGAGACTCTGAG	0.398		NaN							Chediak-Higashi_syndrome				0	0	0	0.003163	0	14	106				
RYR2	6262	broad.mit.edu	37	1	237819281	237819281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:237819281C>G	uc001hyl.1	+	53	8246	c.8126C>G	c.(8125-8127)TCA>TGA	p.S2709*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2709	Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGATACCTCAAAGTATGGA	0.358		NaN											0	0	0	0.00308	0	5	22				
OPN3	23596	broad.mit.edu	37	1	241803278	241803278	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:241803278G>A	uc001hza.2	-	1	424	c.279C>T	c.(277-279)TTC>TTT	p.F93F	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	93	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGTGACCCCGAAGAGGGACA	0.622		NaN											0	0	0	0.000602	0	4	18				
OR2M4	26245	broad.mit.edu	37	1	248402892	248402892	+	Missense_Mutation	SNP	T	T	A	rs138162512		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248402892T>A	uc010pzh.1	+	1	662	c.662T>A	c.(661-663)GTC>GAC	p.V221D		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTCCCATGTCCTTCGAGCC	0.483		NaN											0	0	0	0.001984	0	7	48				
OR2T2	401992	broad.mit.edu	37	1	248616329	248616329	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248616329C>T	uc001iek.1	+	1	231	c.231C>T	c.(229-231)ATC>ATT	p.I77I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCTGTATCACTGTCCCCA	0.522		NaN											0	0	0	0.006214	0	6	164				
KLF6	1316	broad.mit.edu	37	10	3823941	3823941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3823941C>T	uc001iha.2	-	2	835	c.568G>A	c.(568-570)GAT>AAT	p.D190N	KLF6_uc010qaj.1_Missense_Mutation_p.D190N|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.D190N	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	190					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		GGGGAGGCATCGCCATTTCCC	0.627		NaN									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001855	0	12	57				
KLF6	1316	broad.mit.edu	37	10	3824047	3824047	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3824047C>G	uc001iha.2	-	2	729	c.462G>C	c.(460-462)CTG>CTC	p.L154L	KLF6_uc010qaj.1_Silent_p.L154L|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.L154L|KLF6_uc001ihb.2_Silent_p.L154L	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	154					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		GTTCCCTGCTCAGTTCCGGAG	0.612		NaN									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	13	73				
C10orf18	54906	broad.mit.edu	37	10	5791660	5791660	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:5791660C>G	uc001iij.2	+	15	6901	c.6276C>G	c.(6274-6276)CTC>CTG	p.L2092L	C10orf18_uc001iik.2_Silent_p.L936L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2092										ovary(1)|central_nervous_system(1)	2						CATTCCACCTCAACAAACTGA	0.383		NaN											0	0	0	0.000602	0	4	37				
FAM171A1	221061	broad.mit.edu	37	10	15296770	15296770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:15296770G>A	uc001iob.2	-	4	534	c.527C>T	c.(526-528)TCG>TTG	p.S176L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	176	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GTCCACCTCCGAAGGGGAGCT	0.507		NaN											0	0	0	0.001168	0	5	32				
CUBN	8029	broad.mit.edu	37	10	17107611	17107611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:17107611G>A	uc001ioo.2	-	22	3087	c.3035C>T	c.(3034-3036)TCT>TTT	p.S1012F		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1012	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGTGAGAGATGGCGGGAT	0.403		NaN											0	0	0	0.004656	0	19	161				
SVIL	6840	broad.mit.edu	37	10	29747179	29747179	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:29747179G>A	uc001iut.1	-	38	7395	c.6642C>T	c.(6640-6642)TTC>TTT	p.F2214F	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.F1128F|SVIL_uc001iuu.1_Silent_p.F1788F	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2214	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCCCACTCAGAACAGGCCTT	0.502		NaN											0	0	0	0.000602	0	3	62				
KIAA1462	57608	broad.mit.edu	37	10	30336610	30336610	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:30336610C>T	uc001iux.2	-	1	191	c.132G>A	c.(130-132)CAG>CAA	p.Q44Q	KIAA1462_uc001iuy.2_Silent_p.Q44Q|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.Q44Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	44										ovary(4)	4						CATGCCCGTTCTGCAGGCCCT	0.642		NaN											0	0	0	0.00308	0	6	41				
PARD3	56288	broad.mit.edu	37	10	34671692	34671692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:34671692C>T	uc010qej.1	-	9	1175	c.1175G>A	c.(1174-1176)AGG>AAG	p.R392K	PARD3_uc010qek.1_Missense_Mutation_p.R392K|PARD3_uc010qel.1_Missense_Mutation_p.R392K|PARD3_uc010qem.1_Missense_Mutation_p.R392K|PARD3_uc010qen.1_Missense_Mutation_p.R392K|PARD3_uc010qeo.1_Missense_Mutation_p.R392K|PARD3_uc010qep.1_Missense_Mutation_p.R348K|PARD3_uc010qeq.1_Missense_Mutation_p.R348K|PARD3_uc001ixo.1_Missense_Mutation_p.R122K|PARD3_uc001ixp.1_Missense_Mutation_p.R257K|PARD3_uc001ixq.1_Missense_Mutation_p.R392K|PARD3_uc001ixr.1_Missense_Mutation_p.R392K|PARD3_uc001ixt.1_Missense_Mutation_p.R213K|PARD3_uc001ixu.1_Missense_Mutation_p.R348K|PARD3_uc001ixs.1_Missense_Mutation_p.R45K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	392					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				GTTCACACTCCTGTTGTCAAT	0.488		NaN											0	0	0	0.010729	0	10	75				
NCOA4	8031	broad.mit.edu	37	10	51584877	51584877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:51584877G>C	uc001jis.3	+	8	1179	c.976G>C	c.(976-978)GAG>CAG	p.E326Q	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E342Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E342Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E226Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E160Q|NCOA4_uc001jit.2_Missense_Mutation_p.E326Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E326Q	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	326					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TGAAACCAGTGAGAAGTTTAA	0.478		NaN	T	RET	papillary thyroid 								0	0	0	0.001984	0	5	74				
EXOC6	54536	broad.mit.edu	37	10	94733956	94733956	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:94733956G>A	uc001kig.2	+	18	1986	c.1920G>A	c.(1918-1920)TTG>TTA	p.L640L	EXOC6_uc010qnr.1_Silent_p.L656L|EXOC6_uc001kie.2_Silent_p.L635L|EXOC6_uc009xub.2_Silent_p.L639L|EXOC6_uc009xuc.2_Silent_p.L537L|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.L214L	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	640					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TAAATTTTTTGAGAAGCATCT	0.284		NaN											0	0	0	0.00308	0	5	56				
SORBS1	10580	broad.mit.edu	37	10	97096846	97096846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97096846G>A	uc001kkp.2	-	28	3116	c.3071C>T	c.(3070-3072)TCA>TTA	p.S1024L	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S978L|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1024					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGCCCTTGGTGACAAGGCGAG	0.607		NaN											0	0	0	0.001855	0	11	26				
SORBS1	10580	broad.mit.edu	37	10	97174257	97174257	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97174257C>T	uc001kkp.2	-	7	849	c.804G>A	c.(802-804)TCG>TCA	p.S268S	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Silent_p.S268S|SORBS1_uc001kkq.2_Silent_p.S199S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Silent_p.S236S|SORBS1_uc001kkw.2_Silent_p.S268S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Silent_p.S466S|SORBS1_uc001kkx.1_Silent_p.S236S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	268					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTACGGTACTCGAAACAGCTC	0.602		NaN											0	0	0	0.008291	0	10	63				
GBF1	8729	broad.mit.edu	37	10	104111130	104111130	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104111130A>T	uc001kux.1	+	5	653	c.413A>T	c.(412-414)CAG>CTG	p.Q138L	GBF1_uc001kuw.2_Missense_Mutation_p.Q138L|GBF1_uc001kuy.1_Missense_Mutation_p.Q138L|GBF1_uc001kuz.1_Missense_Mutation_p.Q138L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	138					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAATCCTTCAGGTAAGCGAG	0.517		NaN											0	0	0	0.004482	0	8	42				
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104136749G>C	uc001kux.1	+	33	4583	c.4343G>C	c.(4342-4344)CGC>CCC	p.R1448P	GBF1_uc001kuy.1_Missense_Mutation_p.R1448P|GBF1_uc001kuz.1_Missense_Mutation_p.R1449P	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517		NaN											0	0	0	0.013537	0	12	96				
CNNM2	54805	broad.mit.edu	37	10	104678597	104678597	+	Silent	SNP	C	C	T	rs142276906	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104678597C>T	uc001kwm.2	+	1	484	c.360C>T	c.(358-360)TTC>TTT	p.F120F	CNNM2_uc001kwn.2_Silent_p.F120F|CNNM2_uc001kwl.2_Silent_p.F120F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	120					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCATCGCCTTCACCGAGCACG	0.557		NaN											0	0	0	0.009096	0	4	25				
CCDC147	159686	broad.mit.edu	37	10	106139900	106139900	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:106139900G>A	uc001kyh.2	+	9	1421	c.1287G>A	c.(1285-1287)CAG>CAA	p.Q429Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	429	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGGCTCAGAAGCAGAGAA	0.488		NaN											0	0	0	0.007413	0	17	68				
SORCS1	114815	broad.mit.edu	37	10	108357148	108357148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:108357148C>T	uc001kym.2	-	24	3234	c.3226G>A	c.(3226-3228)GGA>AGA	p.G1076R	SORCS1_uc001kyl.2_Missense_Mutation_p.G1076R|SORCS1_uc009xxs.2_Missense_Mutation_p.G1076R|SORCS1_uc001kyn.1_Missense_Mutation_p.G1076R|SORCS1_uc001kyo.2_Missense_Mutation_p.G1076R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1076	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTCGGACTCCTGGCTTCAGC	0.502		NaN											0	0	0	0.009096	0	3	69				
ZDHHC6	64429	broad.mit.edu	37	10	114190585	114190585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:114190585C>T	uc001kzv.2	-	11	1643	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	ZDHHC6_uc001kzw.2_Missense_Mutation_p.E403K	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	407						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TTCTCCCCCTCTGGGGCTTGA	0.358		NaN											0	0	0	0.004482	0	6	74				
ATRNL1	26033	broad.mit.edu	37	10	117026389	117026389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:117026389G>A	uc001lcg.2	+	12	2274	c.1888G>A	c.(1888-1890)GGG>AGG	p.G630R		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	630	PSI 1.|Kelch 6.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTGGTCCAGGGATAAAATG	0.363		NaN											0	0	0	0.003163	0	12	90				
RGS10	6001	broad.mit.edu	37	10	121286922	121286922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:121286922C>G	uc001lee.2	-	1	40	c.40G>C	c.(40-42)GAT>CAT	p.D14H	RGS10_uc001lef.2_Missense_Mutation_p.D8H|RGS10_uc001leg.2_Missense_Mutation_p.D22H	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	14					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GAACTGCCATCGCTGTCGTGG	0.517		NaN											0	0	0	0.013537	0	11	69				
FAM24A	118670	broad.mit.edu	37	10	124671218	124671218	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:124671218C>T	uc001lgv.2	+	2	189	c.68C>T	c.(67-69)GCG>GTG	p.A23V		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	23						extracellular region				ovary(2)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTGGTTGCCGCGATGGTGCTC	0.473		NaN											0	0	0	0.01441	0	51	284				
JAKMIP3	282973	broad.mit.edu	37	10	133978214	133978214	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:133978214G>C	uc001lkx.3	+	20	2459	c.2459G>C	c.(2458-2460)AGA>ACA	p.R820T	JAKMIP3_uc009yba.1_Missense_Mutation_p.R257T	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTCAGAAGAGACAAATAAAG	0.418		NaN											0	0	0	0.009096	0	3	26				
KNDC1	85442	broad.mit.edu	37	10	134981812	134981812	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:134981812T>C	uc001llz.1	+	3	357	c.356T>C	c.(355-357)TTT>TCT	p.F119S	KNDC1_uc001lma.1_Missense_Mutation_p.F54S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	119	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGAACACCTTTGAGGTAAGT	0.582		NaN											0	0	0	0.001855	0	10	73				
PAOX	196743	broad.mit.edu	37	10	135197564	135197564	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:135197564C>T	uc001lmv.2	+	4	1049	c.969C>T	c.(967-969)ATC>ATT	p.I323I	PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Silent_p.I323I|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	461					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAACAAAATCTTCCTGGAGT	0.557		NaN											0	0	0	0.009096	0	4	56				
SOX6	55553	broad.mit.edu	37	11	16071318	16071318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:16071318C>T	uc001mme.2	-	11	1490	c.1457G>A	c.(1456-1458)GGA>GAA	p.G486E	SOX6_uc001mmd.2_Missense_Mutation_p.G435E|SOX6_uc001mmf.2_Missense_Mutation_p.G432E|SOX6_uc001mmg.2_Missense_Mutation_p.G473E	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	473					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGATCCTCTTCCCAGGCTTCC	0.473		NaN											0	0	0	0.008871	0	19	199				
ABCC8	6833	broad.mit.edu	37	11	17428510	17428510	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:17428510G>T	uc001mnc.2	-	25	3213	c.3087C>A	c.(3085-3087)ATC>ATA	p.I1029I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1029	ABC transmembrane type-1 2.|Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCCAGTAGTCGATGGCCACCA	0.647		NaN											1	0	1.06961e-07	0.00308	1.15426e-07	6	97				
BDNF	627	broad.mit.edu	37	11	27679688	27679688	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:27679688C>G	uc010rdu.1	-	2	1275	c.424G>C	c.(424-426)GAC>CAC	p.D142H	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.D142H|BDNF_uc001mrt.2_Missense_Mutation_p.D157H|BDNF_uc010rdw.1_Missense_Mutation_p.D142H|BDNF_uc009yjd.2_Missense_Mutation_p.D142H|BDNF_uc001mru.2_Missense_Mutation_p.D142H|BDNF_uc010rdx.1_Missense_Mutation_p.D142H|BDNF_uc010rdy.1_Missense_Mutation_p.D142H|BDNF_uc009yjg.2_Missense_Mutation_p.D142H|BDNF_uc009yje.2_Missense_Mutation_p.D224H|BDNF_uc009yjf.2_Missense_Mutation_p.D171H|BDNF_uc001mrv.2_Missense_Mutation_p.D142H|BDNF_uc001mrw.3_Missense_Mutation_p.D142H|BDNF_uc001mrx.2_Missense_Mutation_p.D142H|BDNF_uc001mry.3_Missense_Mutation_p.D142H|BDNF_uc001mrz.3_Missense_Mutation_p.D142H|BDNF_uc001msa.2_Missense_Mutation_p.D150H	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	142						extracellular region	growth factor activity				0						CTAATACTGTCACACACGCTC	0.542		NaN											0	0	0	0.008871	0	16	112				
DGKZ	8525	broad.mit.edu	37	11	46389235	46389235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46389235G>C	uc001ncn.1	+	4	996	c.871G>C	c.(871-873)GAG>CAG	p.E291Q	DGKZ_uc001nch.1_Missense_Mutation_p.E119Q|DGKZ_uc010rgq.1_Missense_Mutation_p.E68Q|DGKZ_uc001ncj.1_Missense_Mutation_p.E68Q|DGKZ_uc010rgr.1_Missense_Mutation_p.E67Q|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.E102Q|DGKZ_uc001ncm.2_Missense_Mutation_p.E102Q|DGKZ_uc009yky.1_Missense_Mutation_p.E102Q|DGKZ_uc010rgs.1_Missense_Mutation_p.E102Q|DGKZ_uc001nci.1_Missense_Mutation_p.E68Q	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	291	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CATCTGGTTCGAGACCAACGT	0.657		NaN									OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	12	64				
DGKZ	8525	broad.mit.edu	37	11	46394037	46394037	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46394037G>A	uc001ncn.1	+	12	1676	c.1551G>A	c.(1549-1551)CTG>CTA	p.L517L	DGKZ_uc001nch.1_Silent_p.L345L|DGKZ_uc010rgq.1_Silent_p.L272L|DGKZ_uc001ncj.1_Silent_p.L295L|DGKZ_uc010rgr.1_Silent_p.L294L|DGKZ_uc001nck.1_Silent_p.L107L|DGKZ_uc001ncl.2_Silent_p.L329L|DGKZ_uc001ncm.2_Silent_p.L328L|DGKZ_uc009yky.1_Silent_p.L329L|DGKZ_uc010rgs.1_Silent_p.L306L	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	517	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTTCGACCTGAGCCAGGGAG	0.577		NaN											0	0	0	0.008291	0	8	90				
OR4C6	219432	broad.mit.edu	37	11	55432656	55432656	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55432656A>G	uc001nht.3	+	3	279	c.14A>G	c.(13-15)AAC>AGC	p.N5S	OR4C6_uc010rik.1_Missense_Mutation_p.N5S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GAAAATCAAAACAATGTGACT	0.373		NaN											0	0	0	0.004007	0	12	80				
OR8H2	390151	broad.mit.edu	37	11	55872685	55872685	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55872685T>G	uc010riy.1	+	1	167	c.167T>G	c.(166-168)CTT>CGT	p.L56R		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.428		NaN								HNSCC(53;0.14)			0	0	0	0.00632	0	24	264				
OR9Q1	219956	broad.mit.edu	37	11	57947223	57947223	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:57947223C>T	uc001nmj.2	+	3	623	c.307C>T	c.(307-309)CTG>TTG	p.L103L		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				TCAGTTCTTTCTGTTCACCTT	0.542		NaN											0	0	0	0.004482	0	8	64				
OR5AN1	390195	broad.mit.edu	37	11	59132579	59132579	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59132579G>C	uc010rks.1	+	1	648	c.648G>C	c.(646-648)ATG>ATC	p.M216I		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TAGTTATCATGATATCCTATG	0.418		NaN											0	0	0	0.003163	0	11	139				
OSBP	5007	broad.mit.edu	37	11	59344488	59344488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59344488C>T	uc001noc.1	-	13	2551	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	691					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TACATGTTTTCTGCATTCTTC	0.463		NaN											0	0	0	0.004672	0	3	65				
VWCE	220001	broad.mit.edu	37	11	61034991	61034991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:61034991G>C	uc001nra.2	-	16	2187	c.1908C>G	c.(1906-1908)TTC>TTG	p.F636L	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	636	VWFC 5.					extracellular region	calcium ion binding			ovary(1)	1						CGTTGTTATAGAAGATTCTGC	0.612		NaN											0	0	0	0.008291	0	8	71				
ASRGL1	80150	broad.mit.edu	37	11	62124476	62124476	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62124476G>C	uc001nte.3	+	4	635	c.351G>C	c.(349-351)CTG>CTC	p.L117L	ASRGL1_uc001ntf.3_Silent_p.L117L|ASRGL1_uc001ntg.3_5'UTR|ASRGL1_uc001nth.1_RNA	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	117					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398		NaN											0	0	0	0.000602	0	3	61				
UBXN1	51035	broad.mit.edu	37	11	62444099	62444099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62444099G>A	uc001nul.1	-	9	989	c.857C>T	c.(856-858)TCT>TTT	p.S286F	UBXN1_uc001nuj.2_3'UTR|UBXN1_uc001num.1_Missense_Mutation_p.S282F|UBXN1_uc001nuk.2_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	286	UBX.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GAGAACAGCAGAAGGCACGAG	0.483		NaN											0	0	0	0.004672	0	3	6				
NRXN2	9379	broad.mit.edu	37	11	64435996	64435996	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:64435996G>C	uc001oar.2	-	9	1717	c.1278C>G	c.(1276-1278)TTC>TTG	p.F426L	NRXN2_uc001oas.2_Missense_Mutation_p.F395L|NRXN2_uc001oaq.2_Missense_Mutation_p.F93L	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CAATGTAGAAGAAGTCATCAG	0.612		NaN											0	0	0	0.008291	0	10	119				
SAPS3	55291	broad.mit.edu	37	11	68369379	68369379	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68369379C>T	uc001onw.2	+	21	2508	c.2241C>T	c.(2239-2241)AGC>AGT	p.S747S	SAPS3_uc001onv.2_Silent_p.S747S|SAPS3_uc001ony.3_Silent_p.S718S|SAPS3_uc001onx.2_Silent_p.S741S|SAPS3_uc009ysh.2_Silent_p.S667S|SAPS3_uc001onu.2_Silent_p.S667S|SAPS3_uc010rqc.1_Silent_p.S515S|SAPS3_uc010rqd.1_Silent_p.S430S|SAPS3_uc001onz.2_Silent_p.S75S|SAPS3_uc001ooa.2_Silent_p.S197S	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	747					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TGGAAACCAGCACTGAACCCA	0.517		NaN											0	0	0	0.008871	0	16	136				
SAPS3	55291	broad.mit.edu	37	11	68377463	68377463	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68377463A>C	uc001onw.2	+	23	2809	c.2542A>C	c.(2542-2544)AGG>CGG	p.R848R	SAPS3_uc001onv.2_Silent_p.R854R|SAPS3_uc001ony.3_Silent_p.R819R|SAPS3_uc001onx.2_Silent_p.R842R|SAPS3_uc009ysh.2_Silent_p.R768R|SAPS3_uc001onu.2_Silent_p.R768R|SAPS3_uc010rqc.1_Silent_p.R616R|SAPS3_uc010rqd.1_Silent_p.R531R|SAPS3_uc001onz.2_Silent_p.R176R|SAPS3_uc001ooa.2_Silent_p.R304R	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	848					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			CGCGGCGCCCAGGCCTCCCAG	0.612		NaN											0	0	0	0.00308	0	7	40				
PPFIA1	8500	broad.mit.edu	37	11	70202353	70202353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:70202353C>T	uc001opo.2	+	19	2773	c.2575C>T	c.(2575-2577)CAA>TAA	p.Q859*	PPFIA1_uc001opn.1_Nonsense_Mutation_p.Q859*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	859	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCGTAAACTTCAAAAAAAGTA	0.393		NaN											0	0	0	0.001168	0	5	82				
NADSYN1	55191	broad.mit.edu	37	11	71166203	71166203	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:71166203G>C	uc001oqn.2	+	2	259	c.133G>C	c.(133-135)GAG>CAG	p.E45Q	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	45	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTTGGACCAGAGCTGGAAAT	0.473		NaN											0	0	0	0.004482	0	8	72				
PCF11	51585	broad.mit.edu	37	11	82877138	82877138	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:82877138G>C	uc001ozx.3	+	5	1544	c.1199G>C	c.(1198-1200)AGA>ACA	p.R400T	PCF11_uc010rsu.1_Missense_Mutation_p.R400T	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	400	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						ATGAACAAGAGAGATCCAAGA	0.338		NaN											0	0	0	0.009096	0	3	16				
NOX4	50507	broad.mit.edu	37	11	89177304	89177304	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89177304T>A	uc001pct.2	-	5	685	c.446A>T	c.(445-447)GAG>GTG	p.E149V	NOX4_uc009yvr.2_Missense_Mutation_p.E124V|NOX4_uc001pcu.2_Missense_Mutation_p.E75V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.E149V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.E149V|NOX4_uc010rtv.1_Missense_Mutation_p.E125V|NOX4_uc009yvq.2_Missense_Mutation_p.E125V|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	149	Extracellular (Potential).|Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACCCACCTCATCTCGGTA	0.448		NaN											0	0	0	0.00245	0	13	125				
NOX4	50507	broad.mit.edu	37	11	89223638	89223638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89223638G>C	uc001pct.2	-	2	380	c.141C>G	c.(139-141)CAC>CAG	p.H47Q	NOX4_uc009yvr.2_Intron|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.H47Q|NOX4_uc001pcx.2_Missense_Mutation_p.H47Q|NOX4_uc001pcv.2_Missense_Mutation_p.H47Q|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.H47Q|NOX4_uc010rtv.1_Missense_Mutation_p.H23Q|NOX4_uc009yvq.2_Missense_Mutation_p.H23Q|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	47	Extracellular (Potential).				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAACATCTGGTGGAGGTAGT	0.438		NaN											0	0	0	0.00245	0	10	93				
ARHGAP20	57569	broad.mit.edu	37	11	110451669	110451669	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:110451669C>T	uc001pkz.1	-	16	2286	c.2001G>A	c.(1999-2001)AAG>AAA	p.K667K	ARHGAP20_uc001pky.1_Silent_p.K644K|ARHGAP20_uc009yyb.1_Silent_p.K631K|ARHGAP20_uc001pla.1_Silent_p.K631K|ARHGAP20_uc001plb.2_Silent_p.K210K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	667					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCAGTGGGATCTTTGTGTACA	0.507		NaN											0	0	0	0.001168	0	3	46				
BTG4	54766	broad.mit.edu	37	11	111367977	111367977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:111367977G>A	uc001plj.2	-	4	654	c.469C>T	c.(469-471)CGT>TGT	p.R157C	BTG4_uc001plk.2_Missense_Mutation_p.R157C	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	157					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GGAATGACACGAGGTTCCTTG	0.388		NaN											0	0	0	0.001984	0	5	125				
CLDN25	644672	broad.mit.edu	37	11	113650727	113650727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:113650727C>G	uc009yyw.1	+	1	210	c.210C>G	c.(208-210)TTC>TTG	p.F70L		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	70	Extracellular (Potential).					integral to membrane|tight junction	structural molecule activity				0						TTGAATCCTTCTTGTCTCTGC	0.562		NaN											0	0	0	0.00308	0	8	90				
SIDT2	51092	broad.mit.edu	37	11	117066606	117066606	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:117066606C>A	uc001pqh.1	+	25	2452	c.2411C>A	c.(2410-2412)TCC>TAC	p.S804Y	SIDT2_uc010rxe.1_Missense_Mutation_p.S804Y|SIDT2_uc001pqg.2_Missense_Mutation_p.S825Y|SIDT2_uc001pqi.1_Missense_Mutation_p.S801Y|SIDT2_uc001pqj.1_Missense_Mutation_p.S116Y|uc001pqk.1_RNA	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	804	Helical; (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCCTCTCCTCCATCGCCATG	0.612		NaN											1	0	8.34094e-07	0.008871	8.96875e-07	17	236				
USP2	9099	broad.mit.edu	37	11	119228516	119228516	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:119228516C>A	uc001pwm.3	-	10	1747	c.1452G>T	c.(1450-1452)CGG>CGT	p.R484R	USP2_uc001pwl.3_Silent_p.R275R|USP2_uc001pwn.3_Silent_p.R241R	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	484	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTTTATACACCGTTTTCTGC	0.498		NaN											1	0	3.11337e-16	0.013726	3.43387e-16	30	309				
ARHGEF12	23365	broad.mit.edu	37	11	120298895	120298895	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:120298895C>G	uc001pxl.1	+	8	531	c.524C>G	c.(523-525)TCT>TGT	p.S175C	ARHGEF12_uc009zat.2_Missense_Mutation_p.S156C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S72C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S72C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	175					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCATGACATCTCCTCATTCA	0.498		NaN	T	MLL	AML								0	0	0	0.014323	0	16	156				
UBASH3B	84959	broad.mit.edu	37	11	122647792	122647792	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:122647792C>T	uc001pyi.3	+	3	636	c.276C>T	c.(274-276)CTC>CTT	p.L92L		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	92						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGTACGTCCTCTACCTCCGTC	0.562		NaN											0	0	0	0.00308	0	8	65				
IQSEC3	440073	broad.mit.edu	37	12	275008	275008	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:275008A>G	uc001qhw.1	+	8	2020	c.2014A>G	c.(2014-2016)AAG>GAG	p.K672E	IQSEC3_uc001qhu.1_Missense_Mutation_p.K672E	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	975	Potential.|PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAGGACCTGAAGGAGTCCAT	0.602		NaN											0	0	0	0.00245	0	11	36				
WNK1	65125	broad.mit.edu	37	12	989996	989996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:989996C>T	uc001qio.3	+	12	3449	c.2942C>T	c.(2941-2943)CCG>CTG	p.P981L	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	981					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCCCATGCCGACAGAAGTA	0.502		NaN											0	0	0	0.001168	0	5	321				
SCNN1A	6337	broad.mit.edu	37	12	6458367	6458367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:6458367G>A	uc001qnx.2	-	10	1749	c.1460C>T	c.(1459-1461)TCT>TTT	p.S487F	SCNN1A_uc001qnv.2_Missense_Mutation_p.S187F|SCNN1A_uc001qnw.2_Missense_Mutation_p.S546F|SCNN1A_uc010sfb.1_Missense_Mutation_p.S510F	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	487	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	GTAACCAGCAGAGAGCTGGTA	0.572		NaN											0	0	0	0.00499	0	15	164				
ATN1	1822	broad.mit.edu	37	12	7044738	7044738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:7044738C>G	uc001qrw.1	+	5	545	c.308C>G	c.(307-309)TCC>TGC	p.S103C	ATN1_uc001qrx.1_Missense_Mutation_p.S103C|ATN1_uc001qry.1_Missense_Mutation_p.S102C	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	103					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CAGTCTCCCTCCGATCTGGAT	0.532		NaN											0	0	0	0.008291	0	10	30				
RECQL	5965	broad.mit.edu	37	12	21624538	21624538	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21624538G>A	uc001rex.2	-	14	1839	c.1491C>T	c.(1489-1491)ATC>ATT	p.I497I	RECQL_uc001rey.2_Silent_p.I497I	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	497					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCAGGATCTTGATTAGATCTC	0.383		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.001984	0	5	89				
ABCC9	10060	broad.mit.edu	37	12	21995253	21995253	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21995253G>A	uc001rfi.1	-	27	3488	c.3468C>T	c.(3466-3468)GCC>GCT	p.A1156A	ABCC9_uc001rfh.2_Silent_p.A1156A|ABCC9_uc001rfj.1_Silent_p.A1120A	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1156	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACTTAGAGGCAACCCGAA	0.308		NaN											0	0	0	0.013537	0	10	25				
KIAA0528	9847	broad.mit.edu	37	12	22627716	22627716	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:22627716G>C	uc001rfq.2	-	16	2240	c.2012C>G	c.(2011-2013)TCA>TGA	p.S671*	KIAA0528_uc010sir.1_Nonsense_Mutation_p.S486*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.S671*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.S673*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.S671*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.S662*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	671							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTTCCCATGTGAAAGGTCTAA	0.383		NaN											0	0	0	0.010729	0	9	98				
TMTC1	83857	broad.mit.edu	37	12	29736357	29736357	+	Silent	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:29736357T>A	uc001rjb.2	-	8	1551	c.1077A>T	c.(1075-1077)TCA>TCT	p.S359S	TMTC1_uc001riz.2_Silent_p.S116S|TMTC1_uc001rja.2_Silent_p.S203S|TMTC1_uc001rjc.1_Silent_p.S421S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	467						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGGACTCTCTTGACAGCCAAA	0.398		NaN											0	0	0	0.001168	0	4	55				
PKP2	5318	broad.mit.edu	37	12	32974300	32974300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:32974300C>T	uc001rlj.3	-	10	2250	c.2135G>A	c.(2134-2136)GGA>GAA	p.G712E	PKP2_uc001rlk.3_Missense_Mutation_p.G668E|PKP2_uc010skj.1_Missense_Mutation_p.G665E	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	712					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTCCACTTCCGGCCGTGAG	0.423		NaN											0	0	0	0.004482	0	7	40				
TMEM106C	79022	broad.mit.edu	37	12	48361983	48361983	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:48361983G>T	uc001rqp.2	+	8	839	c.724G>T	c.(724-726)GAT>TAT	p.D242Y	TMEM106C_uc001rqo.2_Missense_Mutation_p.D223Y|TMEM106C_uc001rqr.2_Missense_Mutation_p.D242Y|TMEM106C_uc001rqq.2_Missense_Mutation_p.D223Y	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	242						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCACTATGTGGATTGTGGAGG	0.428		NaN											1	0	4.36969e-10	0.001855	4.76694e-10	10	70				
ADCY6	112	broad.mit.edu	37	12	49177157	49177157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49177157C>T	uc001rsh.3	-	1	721	c.61G>A	c.(61-63)GAA>AAA	p.E21K	ADCY6_uc001rsj.3_Missense_Mutation_p.E21K|ADCY6_uc001rsi.3_Missense_Mutation_p.E21K	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	21	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CCATTGCGTTCACCCCAGGCT	0.582		NaN											0	0	0	0.001168	0	6	36				
MLL2	8085	broad.mit.edu	37	12	49444684	49444684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49444684G>A	uc001rta.3	-	10	2782	c.2782C>T	c.(2782-2784)CAG>TAG	p.Q928*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	928	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGCATCAGCTGAGGCGACAAG	0.547		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.004007	0	12	71		Valid		
TFCP2	7024	broad.mit.edu	37	12	51512521	51512521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:51512521C>T	uc001rxw.2	-	2	616	c.157G>A	c.(157-159)GAG>AAG	p.E53K	TFCP2_uc001rxv.1_Missense_Mutation_p.E53K|TFCP2_uc009zlx.1_Missense_Mutation_p.E53K|TFCP2_uc001rxx.2_Missense_Mutation_p.E53K|TFCP2_uc009zly.1_5'UTR	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	53					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAACTCGACTCTTCTTGCTTA	0.398		NaN											0	0	0	0.001168	0	6	115				
MFSD5	84975	broad.mit.edu	37	12	53647579	53647579	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:53647579C>T	uc001sci.1	+	2	1151	c.960C>T	c.(958-960)CTC>CTT	p.L320L	MFSD5_uc001sch.1_Silent_p.L427L	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	320	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3						TTGCTGTGCTCATCGTCGTCT	0.547		NaN											0	0	0	0.001984	0	6	75				
HOXC4	3221	broad.mit.edu	37	12	54447857	54447857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:54447857G>A	uc001seu.2	+	3	831	c.151G>A	c.(151-153)GAG>AAG	p.E51K	HOXC4_uc001sex.2_Missense_Mutation_p.E51K	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCACCACCAGGAGCTGTACCC	0.607		NaN											0	0	0	0.00499	0	16	213				
OR6C76	390326	broad.mit.edu	37	12	55820661	55820661	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:55820661G>C	uc010spm.1	+	1	624	c.624G>C	c.(622-624)TTG>TTC	p.L208F		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATCCACTTTGATATTAGTAA	0.398		NaN											0	0	0	0.000602	0	5	25				
DNAJC14	85406	broad.mit.edu	37	12	56215782	56215782	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56215782C>G	uc001shx.1	-	7	2292	c.2088G>C	c.(2086-2088)GTG>GTC	p.V696V	DNAJC14_uc001shu.1_Intron|DNAJC14_uc009zob.1_Silent_p.V696V	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	696					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AGGGCCTCCTCACTTTCTTCC	0.542		NaN											0	0	0	0.007413	0	14	128				
TIMELESS	8914	broad.mit.edu	37	12	56822054	56822054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822054C>T	uc001slf.2	-	13	1712	c.1544G>A	c.(1543-1545)CGA>CAA	p.R515Q	TIMELESS_uc001slg.2_Missense_Mutation_p.R514Q	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	515					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CCGACAGAATCGCTCCAACAT	0.542		NaN											0	0	0	0.007413	0	13	58				
TIMELESS	8914	broad.mit.edu	37	12	56822689	56822689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822689C>T	uc001slf.2	-	11	1450	c.1282G>A	c.(1282-1284)GAA>AAA	p.E428K	TIMELESS_uc001slg.2_Missense_Mutation_p.E427K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	428					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						GAGGCAGCTTCCTTGCGGTCA	0.532		NaN											0	0	0	0.00499	0	12	38				
ZFC3H1	196441	broad.mit.edu	37	12	72022749	72022749	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72022749C>G	uc001swo.2	-	20	4254	c.3895G>C	c.(3895-3897)GAT>CAT	p.D1299H		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1299					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						AAGCTATTATCTGAAATAGGT	0.328		NaN											0	0	0	0.004672	0	3	42				
ZFC3H1	196441	broad.mit.edu	37	12	72057344	72057344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72057344G>A	uc001swo.2	-	1	406	c.47C>T	c.(46-48)CCG>CTG	p.P16L	ZFC3H1_uc010sts.1_Missense_Mutation_p.P16L|ZFC3H1_uc001swp.2_Missense_Mutation_p.P16L|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	16					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTCTTCCTTCGGCGAGAGGCC	0.652		NaN									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	13	181				
TMTC2	160335	broad.mit.edu	37	12	83455601	83455601	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:83455601G>A	uc001szt.2	+	11	2754	c.2322G>A	c.(2320-2322)CTG>CTA	p.L774L	TMTC2_uc010suk.1_Silent_p.L529L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	774	TPR 9.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CAGCCAGGCTGAGGCCTAATG	0.353		NaN											0	0	0	0.001855	0	11	121				
TMTC3	160418	broad.mit.edu	37	12	88570051	88570051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:88570051G>C	uc001tau.2	+	10	1607	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	463	TPR 2.					integral to membrane	binding			skin(1)	1						AAAGAACTTTGAGAGAGCTTT	0.289		NaN											0	0	0	0.000602	0	4	32				
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:93792607G>C	uc001tcm.2	+	4	714	c.316G>C	c.(316-318)GAT>CAT	p.D106H	NUDT4_uc010sup.1_Missense_Mutation_p.D106H|NUDT4_uc001tcn.2_Missense_Mutation_p.D54H|NUDT4_uc010suq.1_Missense_Mutation_p.D55H|NUDT4_uc001tco.2_Missense_Mutation_p.D54H	NM_019094	NP_061967	Q9NZJ9	NUDT4_HUMAN	nudix-type motif 4 isoform alpha	106	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0						AATATTAGAAGATTGGGAAGA	0.323		NaN											0	0	0	0.004672	0	3	26				
TMCC3	57458	broad.mit.edu	37	12	94975783	94975783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:94975783T>C	uc001tdj.2	-	2	728	c.610A>G	c.(610-612)AGA>GGA	p.R204G	TMCC3_uc001tdi.2_Missense_Mutation_p.R173G	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	204						integral to membrane				ovary(1)|skin(1)	2						GCAAACTCTCTGGACTTATTG	0.512		NaN											0	0	0	0.004007	0	13	82				
HAL	3034	broad.mit.edu	37	12	96389601	96389601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:96389601C>T	uc001tem.1	-	2	385	c.88G>A	c.(88-90)GAG>AAG	p.E30K	HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.E30K	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	30					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	CTCACGGCCTCCCGGCCCAGC	0.652		NaN											0	0	0	0.00308	0	7	33				
NEDD1	121441	broad.mit.edu	37	12	97345758	97345758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:97345758C>G	uc001teu.3	+	16	2249	c.1910C>G	c.(1909-1911)TCA>TGA	p.S637*	NEDD1_uc001tev.3_Nonsense_Mutation_p.S637*|NEDD1_uc010svc.1_Nonsense_Mutation_p.S548*|NEDD1_uc001tew.2_Nonsense_Mutation_p.S644*|NEDD1_uc001tex.2_Nonsense_Mutation_p.S548*	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	637					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						GAAAGATACTCAGTGAATGAA	0.318		NaN											0	0	0	0.001168	0	6	60				
ANKS1B	56899	broad.mit.edu	37	12	99640173	99640173	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:99640173G>C	uc001tge.1	-	13	2643	c.2226C>G	c.(2224-2226)CTC>CTG	p.L742L	ANKS1B_uc001tgf.1_Silent_p.L322L|ANKS1B_uc001tgk.2_Silent_p.L39L|ANKS1B_uc009ztt.1_Silent_p.L708L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	742						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GATAGGCAATGAGATCAGAAT	0.413		NaN											0	0	0	0.010729	0	11	45				
C12orf48	55010	broad.mit.edu	37	12	102547708	102547708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:102547708C>G	uc001tjf.2	+	4	561	c.449C>G	c.(448-450)TCT>TGT	p.S150C	C12orf48_uc001tje.2_Missense_Mutation_p.S69C|C12orf48_uc001tjg.2_Missense_Mutation_p.S69C|C12orf48_uc010swa.1_Missense_Mutation_p.S227C|C12orf48_uc001tjh.2_Missense_Mutation_p.S69C|C12orf48_uc010swb.1_Intron|C12orf48_uc001tji.2_Missense_Mutation_p.S154C|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Missense_Mutation_p.S150C|C12orf48_uc009zud.2_Missense_Mutation_p.S150C	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	150					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						ACTGATCTTTCTATACCAACA	0.338		NaN											0	0	0	0.003163	0	11	76				
NT5DC3	51559	broad.mit.edu	37	12	104182660	104182660	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:104182660A>T	uc010swe.1	-	10	1098	c.1057T>A	c.(1057-1059)TGG>AGG	p.W353R		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	353							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						ATTTTATCCCAGAGTAAGACA	0.403		NaN											0	0	0	0.011902	0	35	196				
SLC41A2	84102	broad.mit.edu	37	12	105238268	105238268	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:105238268T>C	uc001tla.2	-	9	1685	c.1518A>G	c.(1516-1518)TTA>TTG	p.L506L		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	506	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CAGCGCCAAATAAATACACTA	0.318		NaN											0	0	0	0.00245	0	14	85				
CCDC64	92558	broad.mit.edu	37	12	120510439	120510439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:120510439C>T	uc001txl.1	+	6	1239	c.1214C>T	c.(1213-1215)TCG>TTG	p.S405L	CCDC64_uc001txk.2_Missense_Mutation_p.S405L|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.S54L	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	405					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGAAACCTCGTCCGCCAAG	0.567		NaN											0	0	0	0.006214	0	8	62				
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:123380553G>C	uc001udl.2	-	1	160	c.57C>G	c.(55-57)AAC>AAG	p.N19K		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716		NaN											0	0	0	0.001168	0	3	47				
GPR133	283383	broad.mit.edu	37	12	131487836	131487836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:131487836C>A	uc001uit.3	+	10	1692	c.1133C>A	c.(1132-1134)TCT>TAT	p.S378Y	GPR133_uc010tbm.1_Missense_Mutation_p.S410Y	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	378	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGGGCTCCTCTGCCATGGCA	0.602		NaN											1	0	0.00116845	0.001168	0.00119841	4	44				
CHFR	55743	broad.mit.edu	37	12	133433091	133433092	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:133433091_133433092CC>AA	uc001ulf.2	-	10	1311_1312	c.1227_1228GG>TT	c.(1225-1230)CTGGAG>CTTTAG	p.E410*	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.E398*|CHFR_uc010tbs.1_Nonsense_Mutation_p.E410*|CHFR_uc001uld.2_Nonsense_Mutation_p.E369*|CHFR_uc010tbt.1_Nonsense_Mutation_p.E318*	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	410					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTGACAGCTCCAGCAGGTCCT	0.505		NaN											0	0	0	0.004672	0	29	99				
CENPJ	55835	broad.mit.edu	37	13	25473722	25473722	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25473722C>A	uc001upt.3	-	9	3079	c.2826G>T	c.(2824-2826)AGG>AGT	p.R942S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	942					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAATTTCTTTCCTAAAATGAC	0.403		NaN											1	0	0.000442599	0.006214	0.000456288	7	29				
CDK8	1024	broad.mit.edu	37	13	26828880	26828880	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:26828880C>T	uc001uqr.1	+	1	128	c.102C>T	c.(100-102)CAC>CAT	p.H34H	CDK8_uc001uqs.1_Silent_p.H34H|CDK8_uc001uqt.1_Translation_Start_Site	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	34	Protein kinase.|ATP (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTTATGGTCACGTCTACAAAG	0.607		NaN											0	0	0	0.00308	0	7	28				
FRY	10129	broad.mit.edu	37	13	32826017	32826017	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:32826017G>A	uc001utx.2	+	50	7669	c.7173G>A	c.(7171-7173)AAG>AAA	p.K2391K	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTCCAGAAGAGAACAAAAG	0.323		NaN											0	0	0	0.003163	0	10	139				
DIAPH3	81624	broad.mit.edu	37	13	60545102	60545102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:60545102G>T	uc001vht.2	-	16	2062	c.1843C>A	c.(1843-1845)CCC>ACC	p.P615T	DIAPH3_uc001vhu.2_Missense_Mutation_p.P352T|DIAPH3_uc001vhv.2_Missense_Mutation_p.P193T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	615	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATCCCAGGGGAGGTGGTGGA	0.542		NaN											1	0	6.31075e-24	0.01441	6.98607e-24	40	113				
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636090C>T	uc001vje.2	+	2	677	c.353C>T	c.(352-354)TCA>TTA	p.S118L	KLF5_uc001vjd.2_Missense_Mutation_p.S27L	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	118					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GACAGTGCCTCAGTCGTAGAC	0.443		NaN											0	0	0	0.007413	0	17	243		Valid		
KLF5	688	broad.mit.edu	37	13	73636396	73636396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636396C>T	uc001vje.2	+	2	983	c.659C>T	c.(658-660)TCT>TTT	p.S220F	KLF5_uc001vjd.2_Missense_Mutation_p.S129F	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	220					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTTCATCTTTCTGTCCCTACC	0.463		NaN											0	0	0	0.009096	0	4	93		Valid		
LMO7	4008	broad.mit.edu	37	13	76335156	76335156	+	Translation_Start_Site	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:76335156C>G	uc001vjv.2	+	1	360	c.-400C>G	c.(-402--398)ATCAA>ATGAA		LMO7_uc010thv.1_Nonsense_Mutation_p.S152*|LMO7_uc001vjt.1_Nonsense_Mutation_p.S100*|LMO7_uc010thw.1_Nonsense_Mutation_p.S61*|LMO7_uc001vju.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2							cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGGATTTATCAAATCGAGTC	0.333		NaN											0	0	0	0.007413	0	15	34				
NALCN	259232	broad.mit.edu	37	13	102029397	102029397	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:102029397A>C	uc001vox.1	-	5	575	c.386T>G	c.(385-387)ATT>AGT	p.I129S	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.I129S|NALCN_uc001vpa.2_Missense_Mutation_p.I129S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	129	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATCAGCAATTTCAAACAC	0.403		NaN											0	0	0	0.000602	0	5	83				
MYO16	23026	broad.mit.edu	37	13	109661365	109661365	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:109661365A>G	uc001vqt.1	+	22	2623	c.2497A>G	c.(2497-2499)AAC>GAC	p.N833D	MYO16_uc010agk.1_Missense_Mutation_p.N855D|MYO16_uc001vqu.1_Missense_Mutation_p.N633D|MYO16_uc010tjh.1_Missense_Mutation_p.N345D	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	833					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTCCTGGTAACCAGAATGG	0.353		NaN											0	0	0	0.013537	0	11	128				
TMCO3	55002	broad.mit.edu	37	13	114154315	114154315	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:114154315G>A	uc001vtu.3	+	4	1028	c.667G>A	c.(667-669)GAA>AAA	p.E223K	TMCO3_uc001vtt.3_Missense_Mutation_p.E223K	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	223	Poly-Glu.			E -> G (in Ref. 2; BAA91295).		integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGTGGAGGAAGAAGAGGCCAA	0.383		NaN											0	0	0	0.000602	0	4	68				
CHD8	57680	broad.mit.edu	37	14	21897300	21897300	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:21897300C>T	uc001was.1	-	3	295	c.201G>A	c.(199-201)CAG>CAA	p.Q67Q	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	346	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCTGTGGCTGCTGCACCT	0.567		NaN											0	0	0	0.006214	0	9	87				
MMP14	4323	broad.mit.edu	37	14	23306101	23306101	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:23306101C>T	uc001whc.2	+	1	309	c.75C>T	c.(73-75)CTC>CTT	p.L25L		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	25						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCGCCTCCCTCGGCTCGGCCC	0.726		NaN									OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	47				
RNF31	55072	broad.mit.edu	37	14	24617902	24617902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:24617902G>A	uc001wmn.1	+	4	796	c.547G>A	c.(547-549)GAA>AAA	p.E183K	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.E32K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	183	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGACAAGGTTGAAGATGATGT	0.453		NaN											0	0	0	0.001984	0	6	71				
HECTD1	25831	broad.mit.edu	37	14	31575931	31575931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31575931C>T	uc001wrc.1	-	38	7636	c.7147G>A	c.(7147-7149)GAG>AAG	p.E2383K	HECTD1_uc001wra.1_Missense_Mutation_p.E509K|HECTD1_uc001wrb.1_Missense_Mutation_p.E509K	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2383	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGTTCTTCTCATCTTCAGAA	0.378		NaN											0	0	0	0.00308	0	8	50				
HECTD1	25831	broad.mit.edu	37	14	31598386	31598386	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31598386G>A	uc001wrc.1	-	25	4680	c.4191C>T	c.(4189-4191)ATC>ATT	p.I1397I	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.I865I	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1397	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AACCCAAGCTGATGTCGCTGC	0.458		NaN											0	0	0	0.003163	0	12	183				
SOS2	6655	broad.mit.edu	37	14	50671004	50671004	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:50671004C>G	uc001wxs.3	-	2	309	c.211G>C	c.(211-213)GAG>CAG	p.E71Q	SOS2_uc010tql.1_Missense_Mutation_p.E71Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	71					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTTTTACCTCTACATCTTGA	0.313		NaN											0	0	0	0.012319	0	16	158				
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:63888788G>A	uc001xgd.1	-	4	969	c.379C>T	c.(379-381)CTC>TTC	p.L127F	PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51F|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51F|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127F|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127F|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	127					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTAGGAGGGAGAGTTCTGAAT	0.423		NaN											0	0	0	0.010729	0	8	72				
SYNE2	23224	broad.mit.edu	37	14	64457211	64457211	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:64457211C>G	uc001xgm.2	+	20	2626	c.2396C>G	c.(2395-2397)TCA>TGA	p.S799*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.S799*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	799	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAAATATTTCAAGCCAGGAG	0.353		NaN											0	0	0	0.004482	0	8	94				
SPTB	6710	broad.mit.edu	37	14	65220341	65220341	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:65220341C>T	uc001xhr.2	-	32	6570	c.6516G>A	c.(6514-6516)CCG>CCA	p.P2172P	SPTB_uc001xhs.2_Silent_p.P2172P|SPTB_uc010aqi.2_Silent_p.P833P	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	Error:Variant_position_missing_in_P11277_after_alignment					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATGGTCCCGCGGGGCCGGCA	0.627		NaN											0	0	0	0.004007	0	12	140				
FUT8	2530	broad.mit.edu	37	14	66208977	66208977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:66208977G>C	uc001xin.2	+	11	2774	c.1577G>C	c.(1576-1578)GGA>GCA	p.G526A	FUT8_uc001xio.2_Missense_Mutation_p.G526A|FUT8_uc010tsp.1_Missense_Mutation_p.G363A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.G526A|FUT8_uc001xiq.2_Missense_Mutation_p.G397A|FUT8_uc001xis.2_Missense_Mutation_p.G120A	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	526	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATGGAACCTGGAGATATCATT	0.453		NaN											0	0	0	0.006122	0	13	128				
TTC9	23508	broad.mit.edu	37	14	71137851	71137851	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:71137851G>A	uc001xmi.2	+	3	991	c.648G>A	c.(646-648)CAG>CAA	p.Q216Q		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	216							binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GATGCTCCCAGAGAGAAAAAG	0.567		NaN											0	0	0	0.00308	0	6	37				
NRXN3	9369	broad.mit.edu	37	14	79270147	79270147	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:79270147C>G	uc001xun.2	+	6	1601	c.1110C>G	c.(1108-1110)GTC>GTG	p.V370V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.V504V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	743	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGGCGTGTCAAGCTCATGG	0.522		NaN											0	0	0	0.000602	0	5	42				
TSHR	7253	broad.mit.edu	37	14	81609311	81609311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81609311G>C	uc001xvd.1	+	10	1065	c.909G>C	c.(907-909)GAG>GAC	p.E303D		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	303	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTGTAATGAGAGCAGTATGC	0.343		NaN	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						0	0	0	0.004482	0	6	92				
STON2	85439	broad.mit.edu	37	14	81744768	81744768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81744768G>A	uc010tvu.1	-	4	1088	c.887C>T	c.(886-888)TCT>TTT	p.S296F	STON2_uc001xvk.1_Missense_Mutation_p.S296F|STON2_uc010tvt.1_Missense_Mutation_p.S93F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	296					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCGGTTTAAAGAGGAAATATC	0.468		NaN											0	0	0	0.00308	0	7	97				
SERPINA6	866	broad.mit.edu	37	14	94780794	94780794	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:94780794G>A	uc001ycv.2	-	2	296	c.192C>T	c.(190-192)TTC>TTT	p.F64F	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	64					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGGGAGATGAAAATGTTCT	0.552		NaN											0	0	0	0.004482	0	7	44				
SERPINA3	12	broad.mit.edu	37	14	95080900	95080900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:95080900G>A	uc001ydp.2	+	2	201	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	SERPINA3_uc001ydo.3_Missense_Mutation_p.R66Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.R41Q|SERPINA3_uc001yds.2_Missense_Mutation_p.R41Q|SERPINA3_uc010avg.2_Missense_Mutation_p.R41Q	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	41					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AACCAAGACCGAGGGACACAC	0.582		NaN											0	0	0	0.004007	0	13	123				
AK7	122481	broad.mit.edu	37	14	96912869	96912869	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:96912869C>T	uc001yfn.2	+	8	839	c.795C>T	c.(793-795)GTC>GTT	p.V265V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	265	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TACAAAACGTCATAGATCACG	0.443		NaN											0	0	0	0.00308	0	5	70				
C14orf68	283600	broad.mit.edu	37	14	100795964	100795964	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:100795964C>T	uc001yhc.2	+	6	982	c.909C>T	c.(907-909)GCC>GCT	p.A303A	C14orf68_uc001yhd.2_Silent_p.A157A	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	303					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				TGAGGCTCGCCCGGGGTCTGC	0.652		NaN											0	0	0	0.007291	0	24	110				
DYNC1H1	1778	broad.mit.edu	37	14	102516520	102516520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:102516520G>C	uc001yks.2	+	77	13961	c.13797G>C	c.(13795-13797)GAG>GAC	p.E4599D		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4599					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAAACACCGAGAAGAAGGCCA	0.592		NaN											0	0	0	0.001168	0	5	62				
CYFIP1	23191	broad.mit.edu	37	15	22929848	22929848	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:22929848G>A	uc001yus.2	+	6	626	c.522G>A	c.(520-522)CTG>CTA	p.L174L	CYFIP1_uc001yut.2_Silent_p.L174L|CYFIP1_uc010aya.1_Silent_p.L202L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	174					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGACGAGCTGAAGAACATGA	0.582		NaN											0	0	0	0.006214	0	7	54				
UBE3A	7337	broad.mit.edu	37	15	25601128	25601128	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:25601128T>C	uc001zaq.2	-	7	2044	c.2044A>G	c.(2044-2046)ATA>GTA	p.I682V	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.I659V|UBE3A_uc001zas.2_Missense_Mutation_p.I679V|UBE3A_uc001zat.2_Missense_Mutation_p.I659V	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	682					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCTGTGATATCTGGAAAGTG	0.323		NaN											0	0	0	0.00308	0	7	137				
RYR3	6263	broad.mit.edu	37	15	34015011	34015011	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:34015011G>A	uc001zhi.2	+	44	6785	c.6715G>A	c.(6715-6717)GGG>AGG	p.G2239R	RYR3_uc010bar.2_Missense_Mutation_p.G2239R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2239	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGGGAAACGGGCTCTTGGC	0.572		NaN											0	0	0	0.00333	0	23	117				
PLCB2	5330	broad.mit.edu	37	15	40586548	40586548	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:40586548G>A	uc001zld.2	-	19	2281	c.1980C>T	c.(1978-1980)TTC>TTT	p.F660F	PLCB2_uc010bbo.2_Silent_p.F656F|PLCB2_uc010ucm.1_Silent_p.F660F	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	660	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCGGCGCATGAACTCATGCT	0.592		NaN											0	0	0	0.008871	0	18	50				
INO80	54617	broad.mit.edu	37	15	41313219	41313219	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:41313219C>T	uc001zni.2	-	26	3366	c.3153G>A	c.(3151-3153)TTG>TTA	p.L1051L	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1051	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GGGCCCCATTCAACAAACACT	0.527		NaN											0	0	0	0.001855	0	10	57				
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134022	42134022	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:42134022G>A	uc010bco.2	+	8	597	c.496G>A	c.(496-498)GAG>AAG	p.E166K	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	166					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TCCAGCCTCAGAGCACAGAGT	0.637		NaN											0	0	0	0.001168	0	5	19				
SLTM	79811	broad.mit.edu	37	15	59179635	59179635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:59179635C>T	uc002afp.2	-	18	2568	c.2480G>A	c.(2479-2481)AGA>AAA	p.R827K	SLTM_uc002afn.2_Missense_Mutation_p.R369K|SLTM_uc002afo.2_Missense_Mutation_p.R809K|SLTM_uc002afq.2_Missense_Mutation_p.R396K|SLTM_uc010bgd.2_Missense_Mutation_p.R396K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	827	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CTCATTTCTTCTGGAGTCACT	0.463		NaN											0	0	0	0.007413	0	17	71				
CORO2B	10391	broad.mit.edu	37	15	69003924	69003924	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:69003924T>C	uc002arj.3	+	5	556	c.527T>C	c.(526-528)ATT>ACT	p.I176T	CORO2B_uc010bic.2_Missense_Mutation_p.I171T|CORO2B_uc002ark.2_5'Flank	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	176	WD 2.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						GTGAAGATGATTGACTGCCAC	0.592		NaN											0	0	0	0.00308	0	6	46				
GRAMD2	196996	broad.mit.edu	37	15	72455648	72455648	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:72455648C>T	uc002atq.2	-	10	939	c.915G>A	c.(913-915)CTG>CTA	p.L305L	GRAMD2_uc010bis.2_Silent_p.L305L|GRAMD2_uc010ukh.1_Silent_p.L99L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	305						integral to membrane					0						CCCAGAGCCTCAGCTCCCCAG	0.562		NaN											0	0	0	0.00308	0	6	53				
CSPG4	1464	broad.mit.edu	37	15	75968309	75968309	+	Missense_Mutation	SNP	G	G	A	rs139798032	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:75968309G>A	uc002baw.2	-	10	6644	c.6551C>T	c.(6550-6552)ACG>ATG	p.T2184M		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2184	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCCTGCTTCCGTCCGGGCGGC	0.687		NaN											0	0	0	0.004672	0	3	13				
IL16	3603	broad.mit.edu	37	15	81552159	81552159	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:81552159C>A	uc002bgh.3	+	3	735	c.359C>A	c.(358-360)GCA>GAA	p.A120E	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A120E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A162E|IL16_uc002bgg.2_Missense_Mutation_p.A120E	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	120					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.A120E(1)		ovary(2)|lung(1)|skin(1)	4						AAACTAGAAGCACAAAGTAGT	0.443		NaN											1	0	9.31168e-06	0.001855	9.87104e-06	11	53				
SOX8	30812	broad.mit.edu	37	16	1035195	1035195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1035195G>A	uc002ckn.2	+	3	1265	c.1150G>A	c.(1150-1152)GGC>AGC	p.G384S		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	384					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				GGGCGACTATGGCGACCTGCA	0.617		NaN											0	0	0	0.000602	0	5	15				
UBE2I	7329	broad.mit.edu	37	16	1374763	1374763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1374763G>A	uc002clc.1	+	7	550	c.446G>A	c.(445-447)CGA>CAA	p.R149Q	UBE2I_uc002cld.1_Missense_Mutation_p.R149Q|UBE2I_uc002clf.1_Missense_Mutation_p.R149Q|UBE2I_uc002clg.1_Missense_Mutation_p.R149Q	NM_194261	NP_919237	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	149					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|skin(1)	2		Hepatocellular(780;0.00369)				AAAAGGGTCCGAGCACAAGCC	0.522		NaN											0	0	0	0.006214	0	9	59				
PKD1	5310	broad.mit.edu	37	16	2155953	2155953	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:2155953G>A	uc002cos.1	-	20	7985	c.7776C>T	c.(7774-7776)ACC>ACT	p.T2592T	PKD1_uc002cot.1_Silent_p.T2592T|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2592	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GCACACTAGCGGTGAGCCCGT	0.662		NaN											0	0	0	0.001168	0	4	44				
CLEC16A	23274	broad.mit.edu	37	16	11145497	11145497	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11145497G>T	uc002dao.2	+	18	2224	c.1994G>T	c.(1993-1995)CGG>CTG	p.R665L	CLEC16A_uc002dan.3_Missense_Mutation_p.R647L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	665										ovary(1)|central_nervous_system(1)	2						AAGACCCGGCGGGTGAGTGAG	0.602		NaN											1	0	2.23348e-06	0.004007	2.3845e-06	13	54				
TXNDC11	51061	broad.mit.edu	37	16	11792094	11792094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11792094G>A	uc010buu.1	-	8	1137	c.1075C>T	c.(1075-1077)CGG>TGG	p.R359W	TXNDC11_uc002dbg.1_Missense_Mutation_p.R332W	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	359					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CCGTGTGGCCGCAGCCACCGA	0.527		NaN											0	0	0	0.009096	0	3	75				
KIAA0430	9665	broad.mit.edu	37	16	15706612	15706612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15706612C>G	uc002ddr.2	-	17	3469	c.3276G>C	c.(3274-3276)AAG>AAC	p.K1092N	KIAA0430_uc002ddq.2_Missense_Mutation_p.K926N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K1088N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K1091N	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1091						peroxisome	nucleotide binding|RNA binding				0						CTACAGGACTCTTCGAACGCA	0.468		NaN											0	0	0	0.006122	0	14	137				
MYH11	4629	broad.mit.edu	37	16	15813524	15813524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15813524G>A	uc002ddy.2	-	35	5107	c.5000C>T	c.(4999-5001)TCC>TTC	p.S1667F	MYH11_uc002ddv.2_Missense_Mutation_p.S1674F|MYH11_uc002ddw.2_Missense_Mutation_p.S1667F|MYH11_uc002ddx.2_Missense_Mutation_p.S1674F|MYH11_uc010bvg.2_Missense_Mutation_p.S1499F|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S373F|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1667	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CTCATCTCTGGAGGCACGGGC	0.507		NaN	T	CBFB	AML								0	0	0	0.013537	0	9	96				
TAOK2	9344	broad.mit.edu	37	16	30002499	30002499	+	Silent	SNP	G	G	A	rs138517482		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30002499G>A	uc002dvc.1	+	19	3543	c.2760G>A	c.(2758-2760)CTG>CTA	p.L920L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	809	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GCATGGCTCTGGGGGGCATCC	0.677		NaN											0	0	0	0.00245	0	12	102				
HSD3B7	80270	broad.mit.edu	37	16	30998197	30998197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30998197C>T	uc002eaf.2	+	6	674	c.568C>T	c.(568-570)CGT>TGT	p.R190C	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.R190C	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	190					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						GTGTGCCCTTCGTCCCACGGG	0.682		NaN											0	0	0	0.009096	0	4	49				
FUS	2521	broad.mit.edu	37	16	31201394	31201394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:31201394C>A	uc002ebf.2	+	11	1183	c.1100C>A	c.(1099-1101)TCA>TAA	p.S367*	FUS_uc002ebh.2_Nonsense_Mutation_p.S366*|FUS_uc002ebg.2_Nonsense_Mutation_p.S162*|FUS_uc002ebi.2_Nonsense_Mutation_p.S368*|FUS_uc002ebj.2_Nonsense_Mutation_p.S163*|FUS_uc010caj.1_Nonsense_Mutation_p.S58*	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	367	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATCAAGGTCTCATTTGCTACT	0.478		NaN	T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								1	0	0.00024832	0.009096	0.000257326	4	22				
GNAO1	2775	broad.mit.edu	37	16	56388944	56388944	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:56388944C>G	uc002eiu.3	+	8	1941	c.1044C>G	c.(1042-1044)CTC>CTG	p.L348L		NM_020988	NP_066268	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	348					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				CCAACAACCTCCGGGGCTGCG	0.483		NaN											0	0	0	0.006214	0	6	71				
CNOT1	23019	broad.mit.edu	37	16	58576138	58576138	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:58576138C>T	uc002env.2	-	33	4970	c.4677G>A	c.(4675-4677)CTG>CTA	p.L1559L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1554L|CNOT1_uc010vik.1_Silent_p.L516L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1559					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCTCACTTTCAGCCTGATTT	0.418		NaN											0	0	0	0.001984	0	7	43				
FHOD1	29109	broad.mit.edu	37	16	67265134	67265134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67265134G>C	uc002esl.2	-	17	2736	c.2624C>G	c.(2623-2625)TCT>TGT	p.S875C	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.S682C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	875	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGAGGTCAGAGGACTCAGG	0.582		NaN											0	0	0	0.00308	0	7	46				
FAM65A	79567	broad.mit.edu	37	16	67575769	67575769	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67575769G>C	uc010vjp.1	+	13	1237	c.1141_splice	c.e13-1	p.N381_splice	FAM65A_uc010cei.1_Splice_Site_p.N203_splice|FAM65A_uc002eth.2_Splice_Site_p.N361_splice|FAM65A_uc010cej.2_Splice_Site_p.N364_splice|FAM65A_uc002eti.1_Splice_Site_p.N324_splice|FAM65A_uc010vjq.1_Splice_Site_p.N375_splice|FAM65A_uc002etj.1_Splice_Site_p.N360_splice|FAM65A_uc002etk.2_Splice_Site_p.N360_splice	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567							cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTTTCTCAGAACATGCTGC	0.577		NaN											0	0	0	0.009096	0	4	57				
NFATC3	4775	broad.mit.edu	37	16	68160443	68160443	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:68160443G>A	uc002evo.1	+	3	1541	c.1331G>A	c.(1330-1332)CGA>CAA	p.R444Q	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.R444Q|NFATC3_uc002evm.1_Missense_Mutation_p.R444Q|NFATC3_uc002evn.1_Missense_Mutation_p.R444Q|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	444	RHD.|				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACTCATCATCGAGCCCATTAT	0.443		NaN											0	0	0	0.00308	0	7	74				
C16orf7	9605	broad.mit.edu	37	16	89775292	89775292	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:89775292C>A	uc002fom.1	-	13	1795	c.1670G>T	c.(1669-1671)GGG>GTG	p.G557V	C16orf7_uc002fol.1_Missense_Mutation_p.G487V|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	557	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGCGGGGGCCCGGCCTGGGG	0.667		NaN											1	0	2.7689e-08	0.001984	2.9988e-08	5	19				
ENO3	2027	broad.mit.edu	37	17	4859247	4859247	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:4859247C>T	uc002gab.3	+	9	970	c.876C>T	c.(874-876)ATC>ATT	p.I292I	ENO3_uc002gac.3_Silent_p.I292I|ENO3_uc010vss.1_Silent_p.I249I|ENO3_uc010vst.1_Silent_p.I128I	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	292					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TGGTCTCCATCGAAGACCCCT	0.358		NaN											0	0	0	0.003755	0	29	234				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00499	0	18	32		Valid		
MYH2	4620	broad.mit.edu	37	17	10440759	10440759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:10440759G>C	uc010coi.2	-	16	1816	c.1688C>G	c.(1687-1689)TCT>TGT	p.S563C	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S563C|MYH2_uc010coj.2_Missense_Mutation_p.S563C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	563	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GAAGTTGGCAGACTTGCCCAG	0.532		NaN											0	0	0	0.006214	0	9	119				
DNAH9	1770	broad.mit.edu	37	17	11522879	11522879	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:11522879C>G	uc002gne.2	+	6	1199	c.1131C>G	c.(1129-1131)CTC>CTG	p.L377L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	377	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTAATTATCTCAGCCCAGAAG	0.448		NaN											0	0	0	0.004482	0	6	93				
TEKT3	64518	broad.mit.edu	37	17	15234758	15234758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15234758G>A	uc002gon.2	-	3	332	c.145C>T	c.(145-147)CCT>TCT	p.P49S		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	49					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGTCTCCAAGGAAGGCTCAGG	0.542		NaN											0	0	0	0.009096	0	4	30				
ZNF286A	57335	broad.mit.edu	37	17	15604513	15604513	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15604513G>C	uc010cot.2	+	3	481	c.85G>C	c.(85-87)GAG>CAG	p.E29Q	ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.E29Q|ZNF286A_uc002gpa.2_Missense_Mutation_p.E29Q	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGCACAGAAGAGGGAGAAGT	0.498		NaN											0	0	0	0.004672	0	3	188				
NCOR1	9611	broad.mit.edu	37	17	15967466	15967466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15967466C>T	uc002gpo.2	-	35	5377	c.5137G>A	c.(5137-5139)GAG>AAG	p.E1713K	NCOR1_uc002gpn.2_Missense_Mutation_p.E1729K|NCOR1_uc002gpm.2_Missense_Mutation_p.E233K|NCOR1_uc010vwb.1_Missense_Mutation_p.E297K|NCOR1_uc010coy.2_Missense_Mutation_p.E621K|NCOR1_uc010vwc.1_Missense_Mutation_p.E523K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1713	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cgttccctctcAGCACTTGCA	0.363		NaN											0	0	0	0.009096	0	3	67		Valid		
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:16285788C>T	uc002gpx.2	+	2	705	c.567C>T	c.(565-567)CCC>CCT	p.P189P	UBB_uc010vwe.1_Silent_p.P113P	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552		NaN											0	0	0	0.004672	0	3	61				
KIAA0100	9703	broad.mit.edu	37	17	26958554	26958554	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:26958554G>A	uc002hbu.2	-	23	4341	c.4242C>T	c.(4240-4242)CAC>CAT	p.H1414H		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1414						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGCTCAGCAGGTGGGTCTTTG	0.483		NaN											0	0	0	0.004482	0	6	77				
DHRS13	147015	broad.mit.edu	37	17	27228598	27228598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:27228598C>T	uc002hde.3	-	3	410	c.283G>A	c.(283-285)GAC>AAC	p.D95N	DHRS13_uc002hdd.3_Missense_Mutation_p.D45N|DHRS13_uc010wba.1_Intron	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	95						extracellular region	binding|oxidoreductase activity				0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTGGCCAAGTCCAAGGCCATG	0.602		NaN											0	0	0	0.000602	0	3	81				
EFCAB5	374786	broad.mit.edu	37	17	28296147	28296147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:28296147A>T	uc002het.2	+	4	721	c.529A>T	c.(529-531)AAA>TAA	p.K177*	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.K121*|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.K56*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.K56*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	177							calcium ion binding			ovary(1)|skin(1)	2						TTTGCTTGACAAACTTCTACC	0.378		NaN											0	0	0	0.004672	0	3	33				
LRRC37B	114659	broad.mit.edu	37	17	30348952	30348952	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:30348952G>C	uc002hgu.2	+	1	798	c.787G>C	c.(787-789)GAG>CAG	p.E263Q	LRRC37B_uc010wbx.1_Missense_Mutation_p.E181Q|LRRC37B_uc010csu.2_Missense_Mutation_p.E263Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	263	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCATCTAGAGCCCAAAAG	0.547		NaN											0	0	0	0.003163	0	13	146				
TMEM132E	124842	broad.mit.edu	37	17	32964905	32964905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:32964905C>T	uc002hif.2	+	10	2937	c.2609C>T	c.(2608-2610)ACC>ATC	p.T870I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	870	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGCTGGAAACCGTGCCCGCC	0.706		NaN											0	0	0	0.001984	0	6	22				
SLFN5	162394	broad.mit.edu	37	17	33591520	33591520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:33591520G>C	uc002hjf.3	+	4	1574	c.1457G>C	c.(1456-1458)GGG>GCG	p.G486A	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	486					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCTACACTGGGAGGTTATGC	0.453		NaN											0	0	0	0.00308	0	8	61				
DHRS11	79154	broad.mit.edu	37	17	34956406	34956406	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:34956406C>T	uc002hnd.2	+	6	895	c.681C>T	c.(679-681)CTC>CTT	p.L227L	MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	227						extracellular region	binding|oxidoreductase activity				0						CTCAGTGTCTCAAACCCGAGG	0.567		NaN											0	0	0	0.001984	0	5	31				
MLLT6	4302	broad.mit.edu	37	17	36877001	36877001	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:36877001G>A	uc002hqi.3	+	16	2455	c.2442_splice	c.e16+1	p.E814_splice	MLLT6_uc002hqj.2_Missense_Mutation_p.V250M|MLLT6_uc002hqk.3_Splice_Site_p.E145_splice	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia						regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TTCTTCTGAGGTGGGCGCTAC	0.632		NaN	T	MLL	AL								0	0	0	0.001168	0	5	38				
NR1D1	9572	broad.mit.edu	37	17	38250311	38250311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:38250311C>T	uc002htz.1	-	7	2125	c.1499G>A	c.(1498-1500)CGC>CAC	p.R500H	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Missense_Mutation_p.R114H	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	500					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					GTAGGTGGTGCGGCTTAGGAA	0.572		NaN											0	0	0	0.014323	0	17	170				
ACBD4	79777	broad.mit.edu	37	17	43214493	43214493	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:43214493G>A	uc002iid.2	+	5	746	c.402G>A	c.(400-402)CTG>CTA	p.L134L	ACBD4_uc010wjj.1_Silent_p.L134L|ACBD4_uc002iie.2_Silent_p.L134L|ACBD4_uc002iif.2_Silent_p.L134L|ACBD4_uc002iic.2_Silent_p.L134L|ACBD4_uc010dae.2_Silent_p.L56L	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	134							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						AGACCTTCCTGAGAAGGGTCA	0.607		NaN											0	0	0	0.000602	0	3	52				
HOXB1	3211	broad.mit.edu	37	17	46606964	46606964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46606964G>A	uc002ink.1	-	2	857	c.851C>T	c.(850-852)TCA>TTA	p.S284L		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	284						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGACTGGTCTGAGGCATCTCC	0.637		NaN											0	0	0	0.001984	0	6	48				
HOXB1	3211	broad.mit.edu	37	17	46607120	46607120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46607120C>T	uc002ink.1	-	2	701	c.695G>A	c.(694-696)CGG>CAG	p.R232Q		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	232	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCACCCTCCGGGCCCGGCT	0.572		NaN											0	0	0	0.003163	0	14	172				
CACNA1G	8913	broad.mit.edu	37	17	48701395	48701395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:48701395C>T	uc002irk.1	+	36	6560	c.6188C>T	c.(6187-6189)CCC>CTC	p.P2063L	CACNA1G_uc002irj.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1947L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1984L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1929L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irp.1_Missense_Mutation_p.P2018L|CACNA1G_uc002irq.1_Missense_Mutation_p.P2040L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1970L|CACNA1G_uc002irs.1_Missense_Mutation_p.P2007L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1952L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1959L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1992L|CACNA1G_uc002iru.1_Missense_Mutation_p.P2029L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1883L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1872L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1876L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1849L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1890L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1965L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1858L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1886L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1913L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1831L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1838L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1826L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2063	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGAGGGGCCCCTGGGACAC	0.612		NaN											0	0	0	0.001855	0	10	55				
C17orf71	55181	broad.mit.edu	37	17	57289713	57289713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:57289713G>C	uc002ixi.2	+	2	1813	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	591					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AGAAAAACCAGAGGCTGATAG	0.408		NaN											0	0	0	0.00308	0	6	135				
USP32	84669	broad.mit.edu	37	17	58313541	58313541	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58313541G>A	uc002iyo.1	-	12	1483	c.1197C>T	c.(1195-1197)ATC>ATT	p.I399I	USP32_uc002iyn.1_Silent_p.I69I	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	399	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGCATGGAGATGATAAACC	0.393		NaN											0	0	0	0.010729	0	8	172				
USP32	84669	broad.mit.edu	37	17	58422944	58422944	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58422944C>T	uc002iyo.1	-	2	370	c.84G>A	c.(82-84)CTG>CTA	p.L28L	USP32_uc010wov.1_Silent_p.L28L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	28					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGCATCCTTCAGTCGTTTTA	0.458		NaN											0	0	0	0.000602	0	4	79				
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61568636G>T	uc002jau.1	+	19	2828	c.2806G>T	c.(2806-2808)GTG>TTG	p.V936L	ACE_uc002jav.1_Missense_Mutation_p.V362L|ACE_uc010ddv.1_Missense_Mutation_p.V163L|ACE_uc010wpj.1_Missense_Mutation_p.V362L|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182L	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	936	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617		NaN											1	0	3.59834e-05	0.001168	3.77448e-05	6	44				
MAP3K3	4215	broad.mit.edu	37	17	61768566	61768566	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61768566G>C	uc002jbg.2	+	13	1636	c.1317G>C	c.(1315-1317)CTG>CTC	p.L439L	MAP3K3_uc002jbe.2_Silent_p.L470L|MAP3K3_uc002jbf.2_Silent_p.L470L|MAP3K3_uc002jbh.2_Silent_p.L466L|MAP3K3_uc010wpo.1_Silent_p.L354L|MAP3K3_uc010wpp.1_Silent_p.L435L	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	439	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AGAAGACCCTGACCATCTTCA	0.577		NaN											0	0	0	0.001168	0	5	115				
HELZ	9931	broad.mit.edu	37	17	65197255	65197255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:65197255G>C	uc010wqk.1	-	7	606	c.419C>G	c.(418-420)TCA>TGA	p.S140*	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Nonsense_Mutation_p.S140*|HELZ_uc010des.1_Nonsense_Mutation_p.S140*	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGTTTCTGAGAGAAGTGT	0.343		NaN									OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	78				
SLC39A11	201266	broad.mit.edu	37	17	71027826	71027826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:71027826G>A	uc002jjb.2	-	4	290	c.175C>T	c.(175-177)CTT>TTT	p.L59F	SLC39A11_uc002jja.2_Missense_Mutation_p.L59F|SLC39A11_uc002jjc.1_Missense_Mutation_p.L59F	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	59	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						GGGGCCAGAAGAGACCAATAG	0.537		NaN											0	0	0	0.009096	0	3	32				
DNAI2	64446	broad.mit.edu	37	17	72285872	72285872	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:72285872C>T	uc002jkf.2	+	5	706	c.607C>T	c.(607-609)CTG>TTG	p.L203L	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	203	WD 1.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CATCTGGGACCTGGGTGAGAA	0.627		NaN							Kartagener_syndrome				0	0	0	0.013537	0	10	56				
ARMC7	79637	broad.mit.edu	37	17	73124975	73124975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:73124975C>T	uc002jmw.1	+	3	741	c.439C>T	c.(439-441)CGC>TGC	p.R147C	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	147							binding			pancreas(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGCATGCTTCGCTTCTCCCT	0.692		NaN											0	0	0	0.009096	0	3	30				
GALR2	8811	broad.mit.edu	37	17	74073116	74073117	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74073116_74073117CC>TT	uc002jqm.1	+	2	849_850	c.768_769CC>TT	c.(766-771)ATCCTC>ATTTTC	p.L257F	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	257	Helical; Name=6; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						ACGCGCTCATCCTCTGCGTGTG	0.663		NaN											0	0	0	0.004672	0	4	43				
ZACN	353174	broad.mit.edu	37	17	74075572	74075572	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74075572C>G	uc002jqn.2	+	2	233	c.150C>G	c.(148-150)ATC>ATG	p.I50M	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	50	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						AGGAAAGCATCCAGATCCCGA	0.547		NaN											0	0	0	0.001984	0	6	37				
RHBDF2	79651	broad.mit.edu	37	17	74477496	74477496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74477496C>G	uc002jrq.1	-	3	404	c.111G>C	c.(109-111)GAG>GAC	p.E37D	RHBDF2_uc002jrp.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrs.1_Missense_Mutation_p.E37D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	37	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						GGGCCTGGGTCTCTTTCTCGG	0.637		NaN											0	0	0	0.000602	0	3	43				
CBX8	57332	broad.mit.edu	37	17	77768460	77768460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:77768460G>A	uc002jxd.1	-	5	1237	c.1144C>T	c.(1144-1146)CAA>TAA	p.Q382*		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	382					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAAAAGCCTTGGTCCGTGTTA	0.498		NaN											0	0	0	0.004007	0	13	212				
DLGAP1	9229	broad.mit.edu	37	18	3879141	3879141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:3879141G>A	uc002kmf.2	-	1	995	c.928C>T	c.(928-930)CAG>TAG	p.Q310*	DLGAP1_uc010wyz.1_Nonsense_Mutation_p.Q310*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.Q310*|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	310					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CGTTCTTGCTGACACGACTCG	0.557		NaN											0	0	0	0.013537	0	10	97				
CEP76	79959	broad.mit.edu	37	18	12673397	12673397	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:12673397G>A	uc002kri.2	-	12	2103	c.1947C>T	c.(1945-1947)ATC>ATT	p.I649I	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.I471I|CEP76_uc010wzz.1_Silent_p.I574I	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	649					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0						AAGCAAACATGATCCAAACAG	0.378		NaN											0	0	0	0.00278	0	22	133				
ANKRD30B	374860	broad.mit.edu	37	18	14850274	14850274	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:14850274A>T	uc010dlo.2	+	35	3280	c.3100A>T	c.(3100-3102)AGA>TGA	p.R1034*	ANKRD30B_uc010xal.1_Nonsense_Mutation_p.R176*	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1119	Potential.									ovary(1)|skin(1)	2						AGAAAAAATTAGACCCGAAGA	0.279		NaN											0	0	0	0.001984	0	6	16				
WDR7	23335	broad.mit.edu	37	18	54348569	54348569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:54348569G>A	uc002lgk.1	+	4	503	c.292G>A	c.(292-294)GAT>AAT	p.D98N	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D98N	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	98	WD 2.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GGATGTGAGTGATGGCAGATG	0.333		NaN											0	0	0	0.004007	0	16	146				
TSHZ1	10194	broad.mit.edu	37	18	72999153	72999153	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:72999153G>A	uc002lly.2	+	2	2219	c.1656G>A	c.(1654-1656)CAG>CAA	p.Q552Q		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	597						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGGCCGTGCAGAGCGTGCAGG	0.682		NaN											0	0	0	0.009096	0	3	26				
BTBD2	55643	broad.mit.edu	37	19	1993151	1993151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:1993151C>G	uc002lup.1	-	3	552	c.552G>C	c.(550-552)CAG>CAC	p.Q184H	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	184	BTB.					cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGCCAATCTGCACCTCGT	0.642		NaN											0	0	0	0.004482	0	7	44				
NFIC	4782	broad.mit.edu	37	19	3382105	3382105	+	Silent	SNP	G	G	A	rs146650773	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:3382105G>A	uc010xhi.1	+	2	488	c.426G>A	c.(424-426)CCG>CCA	p.P142P	NFIC_uc002lxo.2_Silent_p.P133P|NFIC_uc010xhh.1_Silent_p.P133P|NFIC_uc002lxp.2_Silent_p.P142P|NFIC_uc010xhj.1_Silent_p.P142P|NFIC_uc002lxq.1_Silent_p.P94P	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	142	CTF/NF-I.				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGGGCATCCCGCTGGAGAGCA	0.672		NaN											0	0	0	0.009096	0	4	130				
CHAF1A	10036	broad.mit.edu	37	19	4428819	4428819	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:4428819C>G	uc002mal.2	+	8	1636	c.1536C>G	c.(1534-1536)CTC>CTG	p.L512L		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	512					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGACCTCAAAGGCCGGC	0.612		NaN						Chromatin_Structure					0	0	0	0.001855	0	11	60				
ZNRF4	148066	broad.mit.edu	37	19	5455804	5455804	+	Missense_Mutation	SNP	G	G	A	rs141487677	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:5455804G>A	uc002mca.3	+	1	379	c.302G>A	c.(301-303)CGG>CAG	p.R101Q		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	101	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCAGTGGTACGGGCCGTGCTG	0.692		NaN											0	0	0	0.005443	0	18	76				
MLLT1	4298	broad.mit.edu	37	19	6270699	6270699	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:6270699G>A	uc002mek.2	-	2	248	c.84C>T	c.(82-84)TTC>TTT	p.F28F		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	28	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						AGTCGTGAGTGAACCCCTCCG	0.612		NaN	T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	54				
FBN3	84467	broad.mit.edu	37	19	8171100	8171100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:8171100C>G	uc002mjf.2	-	37	4726	c.4705G>C	c.(4705-4707)GAG>CAG	p.E1569Q		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1569	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCTGGCAGCTCTTGGCACTCG	0.577		NaN											0	0	0	0.00308	0	7	56				
MUC16	94025	broad.mit.edu	37	19	9025598	9025598	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:9025598A>G	uc002mkp.2	-	15	37060	c.36856T>C	c.(36856-36858)TTG>CTG	p.L12286L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12288	SEA 2.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CACCTGAGCAAGGTCAATCTG	0.527		NaN											0	0	0	0.00278	0	21	115				
MRPL4	51073	broad.mit.edu	37	19	10369342	10369342	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:10369342C>T	uc002mnm.2	+	9	874	c.720C>T	c.(718-720)TTC>TTT	p.F240F	MRPL4_uc002mnn.2_Silent_p.F240F|MRPL4_uc002mno.2_Silent_p.F240F	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	240					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TTAAGACCTTCAACTTGATCC	0.567		NaN											0	0	0	0.00308	0	7	95				
DOCK6	57572	broad.mit.edu	37	19	11323951	11323951	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:11323951C>T	uc002mqs.3	-	35	4433	c.4392G>A	c.(4390-4392)CTG>CTA	p.L1464L	DOCK6_uc010xlq.1_Silent_p.L803L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1464					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GTAGGAGCCTCAGGCACAGGT	0.647		NaN											0	0	0	0.001984	0	6	28				
MAST1	22983	broad.mit.edu	37	19	12985238	12985238	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:12985238C>T	uc002mvm.2	+	26	4395	c.4267C>T	c.(4267-4269)CGC>TGC	p.R1423C		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1423					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GACAGGCCGGCGCAGCAGCTC	0.711		NaN											0	0	0	0.00308	0	7	30				
NWD1	284434	broad.mit.edu	37	19	16908608	16908608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:16908608G>A	uc002neu.3	+	16	3792	c.3370G>A	c.(3370-3372)GAT>AAT	p.D1124N	NWD1_uc002net.3_Missense_Mutation_p.D989N|NWD1_uc002nev.3_Missense_Mutation_p.D918N			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1124							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CATGGCCATGGATCTGGAACA	0.537		NaN											0	0	0	0.00333	0	23	221				
PGPEP1	54858	broad.mit.edu	37	19	18466806	18466806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:18466806G>C	uc002nis.1	+	3	273	c.189G>C	c.(187-189)GAG>GAC	p.E63D	PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_5'UTR|PGPEP1_uc010xqg.1_5'UTR	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	63							cysteine-type peptidase activity				0						CCCTGTGGGAGAAGCACAGTC	0.567		NaN											0	0	0	0.001984	0	5	100				
CILP2	148113	broad.mit.edu	37	19	19655890	19655890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:19655890C>T	uc002nmv.3	+	8	2621	c.2536C>T	c.(2536-2538)CGG>TGG	p.R846W	CILP2_uc002nmw.3_Missense_Mutation_p.R852W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	846						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GGGGTACCGTCGGACGGACCA	0.706		NaN											0	0	0	0.000602	0	4	27				
ZNF99	7652	broad.mit.edu	37	19	22952087	22952087	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:22952087G>C	uc010xrh.1	-	2	106	c.106C>G	c.(106-108)CTG>GTG	p.L36V		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTCCTCCAGAGCGAATTCT	0.403		NaN											0	0	0	0.013537	0	11	99				
CCDC123	84902	broad.mit.edu	37	19	33444672	33444672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:33444672G>A	uc002nty.2	-	4	430	c.341C>T	c.(340-342)TCT>TTT	p.S114F	CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.S114F|CCDC123_uc002nua.2_Missense_Mutation_p.S114F|CCDC123_uc002nub.1_Missense_Mutation_p.S6F	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	114						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					GGATGGCAAAGAAGATCTTCT	0.443		NaN											0	0	0	0.007413	0	9	91				
MLL4	9757	broad.mit.edu	37	19	36223466	36223466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36223466G>C	uc010eei.2	+	29	6016	c.6016G>C	c.(6016-6018)GAG>CAG	p.E2006Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2006					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCAGGAAGAGATTGTAGC	0.667		NaN											0	0	0	0.004482	0	8	41		Valid		
ZNF568	374900	broad.mit.edu	37	19	37441804	37441804	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:37441804G>A	uc002ofc.2	+	7	2264	c.1749G>A	c.(1747-1749)GAG>GAA	p.E583E	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.E507E|ZNF568_uc010efe.2_Silent_p.E507E|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACAGGGGAGAAACCCTATG	0.378		NaN											0	0	0	0.001168	0	5	93				
PAF1	54623	broad.mit.edu	37	19	39880314	39880314	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:39880314G>A	uc002old.2	-	4	433	c.258C>T	c.(256-258)CTC>CTT	p.L86L	PAF1_uc002ole.1_Silent_p.L76L|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	86					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGGATTGATGAGATCGATGG	0.572		NaN											0	0	0	0.00308	0	7	96				
MIA	8190	broad.mit.edu	37	19	41281508	41281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:41281508G>A	uc002opb.3	+	1	209	c.61G>A	c.(61-63)GGT>AGT	p.G21S	MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	NM_006533	NP_006524	Q16674	MIA_HUMAN	melanoma inhibitory activity precursor	21					cell proliferation	extracellular space	growth factor activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		CTCCGGACCTGGTGTCAGGGG	0.622		NaN											0	0	0	0.006214	0	8	194				
ARHGEF1	9138	broad.mit.edu	37	19	42392170	42392170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42392170G>C	uc002orx.2	+	2	126	c.17G>C	c.(16-18)CGA>CCA	p.R6P	ARHGEF1_uc002orw.1_Missense_Mutation_p.R6P|ARHGEF1_uc002ory.2_Missense_Mutation_p.R6P|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Missense_Mutation_p.R21P|ARHGEF1_uc002osb.2_Missense_Mutation_p.R21P	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	6					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GACTTCGCCCGAGGGGCGGTG	0.657		NaN											0	0	0	0.000602	0	4	24				
ATP1A3	478	broad.mit.edu	37	19	42474362	42474362	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42474362G>C	uc002osg.2	-	18	2671	c.2517C>G	c.(2515-2517)CTC>CTG	p.L839L	ATP1A3_uc010xwf.1_Silent_p.L850L|ATP1A3_uc010xwg.1_Silent_p.L809L|ATP1A3_uc010xwh.1_Silent_p.L852L|ATP1A3_uc002osh.2_Silent_p.L839L	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	839	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CCATGCTGATGAGTCTCTCAT	0.612		NaN											0	0	0	0.00308	0	7	66				
ZNF526	116115	broad.mit.edu	37	19	42728808	42728808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42728808G>A	uc002osz.1	+	3	409	c.253G>A	c.(253-255)GAG>AAG	p.E85K		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				TGCTGTCTCAGAGGAGGAGGC	0.582		NaN											0	0	0	0.004482	0	9	55				
ZNF404	342908	broad.mit.edu	37	19	44377405	44377405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44377405G>A	uc002oxs.3	-	2	961	c.952C>T	c.(952-954)CAT>TAT	p.H318Y		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	321	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCACCAGTATGACTTCTTTGA	0.373		NaN											0	0	0	0.001168	0	5	50				
ZNF155	7711	broad.mit.edu	37	19	44500376	44500376	+	Missense_Mutation	SNP	C	C	G	rs138952990		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44500376C>G	uc002oxy.1	+	5	572	c.367C>G	c.(367-369)CAG>GAG	p.Q123E	ZNF155_uc002oxz.1_Missense_Mutation_p.Q123E|ZNF155_uc010xwt.1_Missense_Mutation_p.Q134E	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				AAATAACTCTCAGTTCTTTGA	0.463		NaN											0	0	0	0.001984	0	7	100				
IRF2BP1	26145	broad.mit.edu	37	19	46387392	46387392	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:46387392C>T	uc002pds.1	-	1	1985	c.1641G>A	c.(1639-1641)CCG>CCA	p.P547P		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	547	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGTCTCCGCTCGGGCAGTACA	0.637		NaN											0	0	0	0.001168	0	4	37				
TSKS	60385	broad.mit.edu	37	19	50243088	50243088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:50243088C>A	uc002ppm.2	-	11	1735	c.1724G>T	c.(1723-1725)GGA>GTA	p.G575V		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	575							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACTGCTGCCTCCCCCCATTGT	0.552		NaN											1	0	0.000219431	0.00245	0.000228178	13	102				
ZNF528	84436	broad.mit.edu	37	19	52909217	52909217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:52909217C>A	uc002pzh.2	+	5	499	c.73C>A	c.(73-75)CTG>ATG	p.L25M	ZNF528_uc002pzi.2_Translation_Start_Site	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGAAATGCCTGGACCCTGC	0.488		NaN											1	0	8.69298e-16	0.006999	9.57025e-16	42	145				
C19orf51	352909	broad.mit.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:55672075C>T	uc002qji.1	-	9	1015	c.981G>A	c.(979-981)GCG>GCA	p.A327A	TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Silent_p.A142A|C19orf51_uc002qjj.1_Silent_p.A374A|C19orf51_uc002qjk.1_Silent_p.A273A|C19orf51_uc002qjl.1_Silent_p.A395A			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	327											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGGTGGCTCTCGCGCGCCCCC	0.682		NaN									OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	61				
NLRP8	126205	broad.mit.edu	37	19	56466276	56466276	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:56466276C>G	uc002qmh.2	+	3	923	c.852C>G	c.(850-852)CTC>CTG	p.L284L	NLRP8_uc010etg.2_Silent_p.L284L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	284	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTGCTGCTCTTGGATGGCT	0.522		NaN											0	0	0	0.008361	0	26	183				
PEG3	5178	broad.mit.edu	37	19	57328268	57328268	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57328268G>A	uc002qnu.2	-	7	1893	c.1542C>T	c.(1540-1542)TTC>TTT	p.F514F	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.F485F|PEG3_uc002qnv.2_Silent_p.F514F|PEG3_uc002qnw.2_Silent_p.F390F|PEG3_uc002qnx.2_Silent_p.F388F|PEG3_uc010etr.2_Silent_p.F514F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	514	C2H2-type 2.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACTCTTATTGAAGGTCTCTC	0.458		NaN											0	0	0	0.008361	0	25	105				
ZNF543	125919	broad.mit.edu	37	19	57840469	57840469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57840469G>A	uc002qoi.1	+	4	1984	c.1639G>A	c.(1639-1641)GGC>AGC	p.G547S		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	547	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTAATCGCGGCTCATCCCT	0.463		NaN											0	0	0	0.001984	0	5	74				
ZNF749	388567	broad.mit.edu	37	19	57956103	57956104	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57956103_57956104TG>CC	uc002qoq.2	+	3	1841_1842	c.1587_1588TG>CC	c.(1585-1590)CATGAG>CACCAG	p.E530Q	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	530	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCCA	0.45		NaN											0	0	0	0.004672	0	3	89				
WDR35	57539	broad.mit.edu	37	2	20138060	20138060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:20138060G>A	uc002rdi.2	-	19	2170	c.2062C>T	c.(2062-2064)CAG>TAG	p.Q688*	WDR35_uc002rdj.2_Nonsense_Mutation_p.Q677*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.Q253*|WDR35_uc002rdk.3_Nonsense_Mutation_p.Q253*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	688										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTATGAACTGAGATGCATCT	0.418		NaN											0	0	0	0.001984	0	5	99				
PFN4	375189	broad.mit.edu	37	2	24345319	24345319	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24345319C>G	uc002rfa.1	-	2	263	c.87G>C	c.(85-87)CGG>CGC	p.R29R	LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank|LOC375190_uc002rfb.2_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	profilin family, member 4	29					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACAAGCTCCGCTCCTGGA	0.413		NaN											0	0	0	0.008291	0	8	103				
ITSN2	50618	broad.mit.edu	37	2	24484496	24484496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24484496G>A	uc002rfe.2	-	21	2729	c.2471C>T	c.(2470-2472)GCT>GTT	p.A824V	ITSN2_uc002rff.2_Missense_Mutation_p.A797V|ITSN2_uc002rfg.2_Missense_Mutation_p.A824V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	824				KAVSPK -> FAAAST (in Ref. 6; AAD00899).	endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGATACAGCTTTTTCATT	0.363		NaN											0	0	0	0.004482	0	8	66				
ZNF513	130557	broad.mit.edu	37	2	27600473	27600473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:27600473G>A	uc002rkk.2	-	4	1765	c.1565C>T	c.(1564-1566)TCT>TTT	p.S522F	ZNF513_uc002rkj.2_Missense_Mutation_p.S460F	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	522					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCCGAGAGCTCAAAAC	0.632		NaN											0	0	0	0.000602	0	5	49				
EIF2AK2	5610	broad.mit.edu	37	2	37374916	37374916	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:37374916C>G	uc010ynh.1	-	3	591	c.34G>C	c.(34-36)GAG>CAG	p.E12Q	EIF2AK2_uc010fab.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E12Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E12Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	12	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTAAGTTCCTCCATGAAGAAA	0.398		NaN											0	0	0	0.008871	0	16	127				
PLEKHH2	130271	broad.mit.edu	37	2	43968150	43968150	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:43968150C>G	uc010yny.1	+	21	3272	c.3189C>G	c.(3187-3189)CTC>CTG	p.L1063L	PLEKHH2_uc002rtf.3_Silent_p.L1062L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1063	MyTH4.|Helical; (Potential).					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTCCTCAGGCTTCACC	0.507		NaN											0	0	0	0.001855	0	12	76				
CCDC88A	55704	broad.mit.edu	37	2	55561583	55561583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:55561583C>T	uc002ryv.2	-	15	3216	c.2374G>A	c.(2374-2376)GAA>AAA	p.E792K	CCDC88A_uc010yoz.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E694K|CCDC88A_uc002ryu.2_Missense_Mutation_p.E75K|CCDC88A_uc002ryw.2_Missense_Mutation_p.E75K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	792	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GTTTGATTTTCCATCTCTAAG	0.318		NaN											0	0	0	0.009096	0	3	40				
GKN2	200504	broad.mit.edu	37	2	69173523	69173523	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:69173523C>T	uc002sfa.2	-	5	494	c.385G>A	c.(385-387)GAC>AAC	p.D129N	GKN2_uc002sfb.3_Missense_Mutation_p.D129N	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	129	BRICHOS.					extracellular region					0						CAATCCACGTCTTTGATCAGA	0.443		NaN											0	0	0	0.00245	0	11	207				
ANXA4	307	broad.mit.edu	37	2	70037783	70037783	+	Missense_Mutation	SNP	G	G	A	rs144937233		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:70037783G>A	uc002sfr.3	+	7	682	c.455G>A	c.(454-456)CGA>CAA	p.R152Q	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.R130Q|ANXA4_uc010yqo.1_Missense_Mutation_p.R68Q	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	150	Annexin 2.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						ATGTTCCAGCGAGTGCTGGTG	0.473		NaN											0	0	0	0.008291	0	7	56				
CLEC4F	165530	broad.mit.edu	37	2	71043444	71043444	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:71043444T>A	uc002shf.2	-	4	1146	c.1069A>T	c.(1069-1071)ACT>TCT	p.T357S	CLEC4F_uc010yqv.1_Missense_Mutation_p.T357S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	357	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TGAATCTGAGTATCTGTCTGG	0.408		NaN											0	0	0	0.001984	0	7	72				
CNNM4	26504	broad.mit.edu	37	2	97475114	97475114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:97475114C>T	uc002swx.2	+	7	2286	c.2188C>T	c.(2188-2190)CAG>TAG	p.Q730*	CNNM4_uc010yuy.1_Missense_Mutation_p.S246L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	730					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.Q730*(1)		breast(2)|ovary(1)	3						GAACAGCCCTCAGTTTCCCAT	0.577		NaN											0	0	0	0.001168	0	5	40				
TBC1D8	11138	broad.mit.edu	37	2	101655103	101655103	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:101655103C>T	uc010fiv.2	-	7	1181	c.1050G>A	c.(1048-1050)GAG>GAA	p.E350E	TBC1D8_uc010yvw.1_Silent_p.E365E|TBC1D8_uc002tau.3_Silent_p.E107E	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	350	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CCTCCATCTTCTCGATGCTCA	0.557		NaN											0	0	0	0.003163	0	11	100				
IL1F8	27177	broad.mit.edu	37	2	113783751	113783751	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:113783751T>C	uc002tiq.1	-	5	424	c.320A>G	c.(319-321)CAC>CGC	p.H107R		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	interleukin 1 family, member 8 isoform 1	107					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1						tatgcatgtgtgaattccaac	0		NaN											0	0	0	0.013537	0	9	67				
FAM123C	205147	broad.mit.edu	37	2	131520580	131520580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:131520580G>C	uc002trw.2	+	2	1125	c.935G>C	c.(934-936)AGT>ACT	p.S312T	FAM123C_uc010fmv.2_Missense_Mutation_p.S312T|FAM123C_uc010fms.1_Missense_Mutation_p.S312T|FAM123C_uc010fmt.1_Missense_Mutation_p.S312T|FAM123C_uc010fmu.1_Missense_Mutation_p.S312T	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	312										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCTGGGACAGTGTGAATCGC	0.647		NaN											0	0	0	0.00308	0	6	35				
MCM6	4175	broad.mit.edu	37	2	136610439	136610439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:136610439C>T	uc002tuw.2	-	12	1749	c.1673G>A	c.(1672-1674)AGA>AAA	p.R558K		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	558					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTCCTCAATTCTTGAATGCAA	0.368		NaN											0	0	0	0.001984	0	7	46				
MARCH7	64844	broad.mit.edu	37	2	160604796	160604796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160604796C>G	uc002uax.2	+	5	1117	c.995C>G	c.(994-996)TCA>TGA	p.S332*	MARCH7_uc010foq.2_Nonsense_Mutation_p.S332*|MARCH7_uc010zcn.1_Nonsense_Mutation_p.S276*|MARCH7_uc010for.2_Nonsense_Mutation_p.S294*|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	332	Ser-rich.						ligase activity|zinc ion binding				0						AATGTACCATCAGCTTCTGAA	0.413		NaN											0	0	0	0.009096	0	3	39				
LY75	4065	broad.mit.edu	37	2	160698844	160698844	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160698844G>C	uc002ubc.3	-	24	3261	c.3192C>G	c.(3190-3192)CTC>CTG	p.L1064L	LY75_uc002ubb.3_Silent_p.L1064L|LY75_uc010fos.2_Silent_p.L1064L	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1064	Extracellular (Potential).|C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		TTTGGAGGTTGAGTATTAGGG	0.403		NaN											0	0	0	0.004482	0	7	47				
SLC4A10	57282	broad.mit.edu	37	2	162813607	162813607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:162813607C>T	uc002ubx.3	+	20	2834	c.2650C>T	c.(2650-2652)CAT>TAT	p.H884Y	SLC4A10_uc002uby.3_Missense_Mutation_p.H854Y|SLC4A10_uc010zcs.1_Missense_Mutation_p.H865Y	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	884	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CTCCATCACTCATGTCAATAG	0.493		NaN											0	0	0	0.000602	0	3	20				
METTL5	29081	broad.mit.edu	37	2	170681089	170681089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:170681089T>C	uc002ufn.2	-	1	265	c.19A>G	c.(19-21)AAG>GAG	p.K7E	UBR3_uc010zdi.1_5'Flank|METTL5_uc002ufo.2_Missense_Mutation_p.K7E|METTL5_uc002ufp.2_Missense_Mutation_p.K7E|METTL5_uc002ufq.1_Missense_Mutation_p.K7E	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	methyltransferase like 5	7							methyltransferase activity|nucleic acid binding			central_nervous_system(1)	1						TCTAGTTCCTTAAGCCTTACT	0.468		NaN									OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	12	98				
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179440352A>C	uc010zfg.1	-	275	63027	c.62803T>G	c.(62803-62805)TGT>GGT	p.C20935G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21862							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438		NaN											0	0	0	0.005443	0	9	72				
TTN	7273	broad.mit.edu	37	2	179611576	179611576	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179611576G>C	uc002unb.2	-	46	15775	c.15551C>G	c.(15550-15552)TCT>TGT	p.S5184C	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8703							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAATAAAAGATGGAGGCAT	0.413		NaN											0	0	0	0.001168	0	4	79				
PLCL1	5334	broad.mit.edu	37	2	198948543	198948543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:198948543C>T	uc010fsp.2	+	2	593	c.302C>T	c.(301-303)TCG>TTG	p.S101L	PLCL1_uc002uuv.3_Missense_Mutation_p.S22L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	101	Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AGCATGCCATCGGAAAAGAAA	0.383		NaN											0	0	0	0.001984	0	6	47				
AOX1	316	broad.mit.edu	37	2	201505863	201505863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:201505863G>C	uc002uvx.2	+	24	2712	c.2611G>C	c.(2611-2613)GAG>CAG	p.E871Q	AOX1_uc010zhf.1_Missense_Mutation_p.E427Q|AOX1_uc010fsu.2_Missense_Mutation_p.E237Q	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	871					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCTGGACATGGAGCATTACAG	0.443		NaN											0	0	0	0.009096	0	3	45				
CASP10	843	broad.mit.edu	37	2	202073797	202073797	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:202073797C>T	uc002uxl.1	+	9	1345	c.927C>T	c.(925-927)ATC>ATT	p.I309I	CASP10_uc002uxj.1_Silent_p.I309I|CASP10_uc002uxk.1_Silent_p.I266I|CASP10_uc010fta.1_Silent_p.I242I|CASP10_uc002uxm.1_Silent_p.I266I|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	309					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						AAACAGAGATCCTGAGTCATG	0.264		NaN											0	0	0	0.001168	0	6	42				
CDK5R2	8941	broad.mit.edu	37	2	219825385	219825385	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:219825385C>G	uc002vjf.2	+	1	988	c.843C>G	c.(841-843)CTC>CTG	p.L281L		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	281					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACCCACTCAAGCCCTTCC	0.677		NaN											0	0	0	0.001984	0	6	120				
DNER	92737	broad.mit.edu	37	2	230450662	230450662	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:230450662T>C	uc002vpv.2	-	4	906	c.759A>G	c.(757-759)ATA>ATG	p.I253M	DNER_uc010zly.1_Translation_Start_Site	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	253	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTCGTCCATCTATGAGGGAGC	0.517		NaN											0	0	0	0.004482	0	8	58				
HTR2B	3357	broad.mit.edu	37	2	231988456	231988456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:231988456G>C	uc002vro.2	-	2	528	c.23C>G	c.(22-24)TCT>TGT	p.S8C	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.S8C	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	8	Extracellular (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TTGAAGTTCAGACACTCTGTA	0.423		NaN											0	0	0	0.007413	0	15	111				
ATG16L1	55054	broad.mit.edu	37	2	234191385	234191385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:234191385G>A	uc002vty.2	+	12	1446	c.1189G>A	c.(1189-1191)GAT>AAT	p.D397N	ATG16L1_uc002vtx.1_Missense_Mutation_p.D234N|ATG16L1_uc002vua.2_Missense_Mutation_p.D378N|ATG16L1_uc002vub.2_Missense_Mutation_p.D255N|ATG16L1_uc002vtz.2_Missense_Mutation_p.D218N|ATG16L1_uc002vud.3_Missense_Mutation_p.D313N	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	397	WD 2.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GACTGTGGATGATTATCGATT	0.413		NaN											0	0	0	0.008291	0	8	75				
PLCB1	23236	broad.mit.edu	37	20	8696958	8696958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:8696958G>C	uc002wnb.2	+	13	1301	c.1298G>C	c.(1297-1299)GGG>GCG	p.G433A	PLCB1_uc010zrb.1_Missense_Mutation_p.G332A|PLCB1_uc002wna.2_Missense_Mutation_p.G433A|PLCB1_uc002wnc.1_Missense_Mutation_p.G332A|PLCB1_uc002wnd.1_Missense_Mutation_p.G10A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	433	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CTGATCTTTGGGGATGCCCTT	0.468		NaN											0	0	0	0.004482	0	8	40				
JAG1	182	broad.mit.edu	37	20	10620148	10620148	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:10620148A>G	uc002wnw.2	-	26	4171	c.3655T>C	c.(3655-3657)TAG>CAG	p.*1219Q		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1219					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCGGTCTGCTATACGATGTAC	0.522		NaN							Alagille_Syndrome				0	0	0	0.008871	0	18	178				
CRNKL1	51340	broad.mit.edu	37	20	20022983	20022983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:20022983C>T	uc002wrs.2	-	9	1665	c.1633G>A	c.(1633-1635)GAA>AAA	p.E545K		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	545					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						GCCTCCAATTCTTCATAGAGT	0.413		NaN											0	0	0	0.008291	0	9	92				
MYH7B	57644	broad.mit.edu	37	20	33577919	33577919	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:33577919C>G	uc002xbi.1	+	19	2088	c.1996C>G	c.(1996-1998)CTC>GTC	p.L666V	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	624	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTGGCGACTCTCTATGAGAA	0.552		NaN											0	0	0	0.008291	0	11	134				
KIAA0406	9675	broad.mit.edu	37	20	36641489	36641489	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:36641489T>C	uc002xhl.2	-	3	939	c.730A>G	c.(730-732)AGC>GGC	p.S244G	KIAA0406_uc002xhm.2_Missense_Mutation_p.S244G	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	244							binding				0		Myeloproliferative disorder(115;0.00874)				ATAATGAAGCTCACTGTCTTG	0.443		NaN											0	0	0	0.00245	0	12	150				
SPINT4	391253	broad.mit.edu	37	20	44352659	44352659	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:44352659G>C	uc002xpe.1	+	2	275	c.256G>C	c.(256-258)GAA>CAA	p.E86Q		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	86	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2		Myeloproliferative disorder(115;0.028)				GCTTAAAATAGAACGTGAAGT	0.393		NaN											0	0	0	0.006214	0	7	122				
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:46279914C>T	uc002xtk.2	+	20	4045	c.3840C>T	c.(3838-3840)TTC>TTT	p.F1280F	NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1280	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CCCAGGCCTTCAGCCCACCTC	0.308		NaN											0	0	0	0.009096	0	4	61				
ARFGEF2	10564	broad.mit.edu	37	20	47605103	47605103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:47605103G>A	uc002xtx.3	+	18	2589	c.2437G>A	c.(2437-2439)GAG>AAG	p.E813K	ARFGEF2_uc010zyf.1_Missense_Mutation_p.E106K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	813					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTGCCAGAAGAGTATCTCTC	0.313		NaN											0	0	0	0.00308	0	8	153				
PTGIS	5740	broad.mit.edu	37	20	48124546	48124546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:48124546C>G	uc002xut.2	-	10	1468	c.1414G>C	c.(1414-1416)GAG>CAG	p.E472Q	PTGIS_uc010zyi.1_Missense_Mutation_p.E333Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	472					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCAGGGATCTCCACATCTGCG	0.572		NaN											0	0	0	0.008291	0	10	72				
SALL4	57167	broad.mit.edu	37	20	50401158	50401158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50401158C>G	uc002xwh.3	-	4	2909	c.2808G>C	c.(2806-2808)GAG>GAC	p.E936D	SALL4_uc010gii.2_Missense_Mutation_p.E499D|SALL4_uc002xwi.3_Missense_Mutation_p.E159D	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	936					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCATGGTGTTCTCGATGGCCA	0.493		NaN											0	0	0	0.004482	0	8	94				
ZFP64	55734	broad.mit.edu	37	20	50768754	50768754	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50768754C>T	uc002xwl.2	-	6	2326	c.1977G>A	c.(1975-1977)CAG>CAA	p.Q659Q	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.Q657Q|ZFP64_uc002xwn.2_Silent_p.Q605Q	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGGAGTAGGTCTGCTTGGGTA	0.547		NaN											0	0	0	0.001168	0	4	126				
TAF4	6874	broad.mit.edu	37	20	60578285	60578285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:60578285G>A	uc002ybs.2	-	9	2417	c.2417C>T	c.(2416-2418)TCT>TTT	p.S806F		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	806					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGAGACAGCAGAAAGGGCTTT	0.493		NaN											0	0	0	0.00308	0	7	111				
EEF1A2	1917	broad.mit.edu	37	20	62120317	62120317	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62120317C>A	uc002yfd.1	-	6	1319	c.1218G>T	c.(1216-1218)CCG>CCT	p.P406P	EEF1A2_uc002yfe.1_Silent_p.P406P|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	406						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGGGCTTTCCCGGCACCATCT	0.647		NaN											1	0	6.40141e-05	0.010729	6.70305e-05	10	72				
TPD52L2	7165	broad.mit.edu	37	20	62500783	62500783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62500783G>C	uc002yhc.2	+	2	283	c.154G>C	c.(154-156)GAG>CAG	p.E52Q	TPD52L2_uc002ygy.2_Missense_Mutation_p.E52Q|TPD52L2_uc002ygz.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yha.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhb.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhd.2_Missense_Mutation_p.E52Q|TPD52L2_uc011abk.1_Intron|TPD52L2_uc011abl.1_Missense_Mutation_p.E29Q	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	52	Potential.				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTCAGGGCTGAGCTTACCAA	0.597		NaN											0	0	0	0.004482	0	6	78				
PRPF6	24148	broad.mit.edu	37	20	62659889	62659889	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62659889A>T	uc002yho.2	+	18	2566	c.2398A>T	c.(2398-2400)ATG>TTG	p.M800L	PRPF6_uc002yhp.2_Missense_Mutation_p.M760L	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	800					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AAATACACTCATGGCCAAGGC	0.652		NaN											0	0	0	0.013537	0	11	122				
PCMTD2	55251	broad.mit.edu	37	20	62896743	62896743	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62896743C>T	uc002yil.3	+	4	743	c.543C>T	c.(541-543)CTC>CTT	p.L181L	PCMTD2_uc002yim.3_Silent_p.L181L	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	181						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAATCTTCTCAAAGTGGGAG	0.368		NaN											0	0	0	0.006214	0	8	107				
C21orf29	54084	broad.mit.edu	37	21	45950980	45950980	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr21:45950980C>T	uc002zfe.1	-	4	645	c.579G>A	c.(577-579)GTG>GTA	p.V193V	C21orf29_uc010gpv.1_Silent_p.V125V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	193	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GAGCTCCTTTCACTGACAGGG	0.567		NaN											0	0	0	0.000602	0	4	44				
MRPL40	64976	broad.mit.edu	37	22	19422269	19422269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:19422269C>T	uc002zpg.2	+	3	190	c.148C>T	c.(148-150)CTT>TTT	p.L50F	HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.L6F	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40 precursor	50					anatomical structure morphogenesis	mitochondrial ribosome|nucleus					0	Colorectal(54;0.0993)					ATCAGAACCTCTTCGAAAAAA	0.383		NaN											0	0	0	0.004672	0	3	22				
GGT1	2678	broad.mit.edu	37	22	25023891	25023891	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:25023891C>A	uc003aan.1	+	13	1768	c.1281C>A	c.(1279-1281)CCC>CCA	p.P427P	GGT1_uc003aas.1_Silent_p.P427P|GGT1_uc003aat.1_Silent_p.P427P|GGT1_uc003aau.1_Silent_p.P427P|GGT1_uc003aav.1_Silent_p.P427P|GGT1_uc003aaw.1_Silent_p.P427P|GGT1_uc003aax.1_Silent_p.P427P|GGT1_uc003aay.1_Silent_p.P83P	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	427	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	TCAGCTCTCCCAGCATCACCA	0.617		NaN											1	0	2.31682e-05	0.003163	2.43876e-05	12	201				
MYO18B	84700	broad.mit.edu	37	22	26286783	26286783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26286783G>A	uc003abz.1	+	26	4625	c.4375G>A	c.(4375-4377)GTG>ATG	p.V1459M	MYO18B_uc003aca.1_Missense_Mutation_p.V1340M|MYO18B_uc010guy.1_Missense_Mutation_p.V1341M|MYO18B_uc010guz.1_Missense_Mutation_p.V1340M|MYO18B_uc011aka.1_Missense_Mutation_p.V613M|MYO18B_uc011akb.1_Missense_Mutation_p.V972M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1459	Potential.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGCCTGCCAGGTGCTGGAGAG	0.612		NaN											0	0	0	0.004482	0	7	37				
HPS4	89781	broad.mit.edu	37	22	26860092	26860092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26860092C>T	uc003acl.2	-	11	2163	c.1504G>A	c.(1504-1506)GCA>ACA	p.A502T	HPS4_uc003aci.2_Missense_Mutation_p.A497T|HPS4_uc003acj.2_Missense_Mutation_p.A366T|HPS4_uc003ack.2_Missense_Mutation_p.A293T|HPS4_uc003acn.2_Missense_Mutation_p.A348T|HPS4_uc010gvd.1_Missense_Mutation_p.A520T|HPS4_uc003ach.2_Missense_Mutation_p.A237T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	502					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CCAGGGGCTGCGTGGCTTTCA	0.567		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.004878	0	27	148				
DRG1	4733	broad.mit.edu	37	22	31822752	31822752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:31822752C>G	uc003aku.2	+	7	996	c.865C>G	c.(865-867)CTG>GTG	p.L289V		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	289					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						CTGGGACTATCTGAAACTAGT	0.398		NaN											0	0	0	0.00499	0	13	104				
SSTR3	6753	broad.mit.edu	37	22	37603237	37603237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37603237C>T	uc003ara.2	-	2	668	c.606G>A	c.(604-606)TGG>TGA	p.W202*	SSTR3_uc003arb.2_Nonsense_Mutation_p.W202*	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	202	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						AGCCGGCTCGCCAGGCCGCCG	0.682		NaN											0	0	0	0.004672	0	3	16				
ELFN2	114794	broad.mit.edu	37	22	37771107	37771107	+	Silent	SNP	G	G	A	rs150477054		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37771107G>A	uc003asq.3	-	3	1254	c.468C>T	c.(466-468)ATC>ATT	p.I156I		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	156	LRR 5.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGGACAGGTCGATGCTGATGA	0.642		NaN											0	0	0	0.00308	0	7	86				
ENTHD1	150350	broad.mit.edu	37	22	40139965	40139965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:40139965C>T	uc003ayg.2	-	7	1794	c.1543G>A	c.(1543-1545)GAG>AAG	p.E515K		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	515										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GTGGAAAACTCCCCCCAGTGA	0.413		NaN											0	0	0	0.009096	0	4	38				
ACO2	50	broad.mit.edu	37	22	41911842	41911842	+	Silent	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:41911842A>T	uc003bac.2	+	6	778	c.756A>T	c.(754-756)GCA>GCT	p.A252A	ACO2_uc003bad.2_Silent_p.A252A	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	252					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						TGAAGGTGGCAGGCATCCTCA	0.612		NaN											0	0	0	0.004482	0	9	72				
CRELD2	79174	broad.mit.edu	37	22	50318084	50318084	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50318084G>A	uc003bja.2	+	8	984	c.849G>A	c.(847-849)AGG>AGA	p.R283R	CRELD2_uc010haj.2_Silent_p.R283R|CRELD2_uc010hal.2_Silent_p.R332R|CRELD2_uc010hak.2_Silent_p.R255R|CRELD2_uc010ham.2_Intron	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	283	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTACGCGAGGGAGCACGGAC	0.597		NaN											0	0	0	0.000602	0	5	17				
SBF1	6305	broad.mit.edu	37	22	50898430	50898430	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50898430C>G	uc003blh.2	-	26	3637	c.3442G>C	c.(3442-3444)GAG>CAG	p.E1148Q	SBF1_uc011arx.1_Missense_Mutation_p.E812Q	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1148	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAAGGGCTCAGACTTGGCC	0.662		NaN											0	0	0	0.004482	0	7	63				
CHL1	10752	broad.mit.edu	37	3	432754	432754	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:432754T>C	uc003bou.2	+	21	2926	c.2655T>C	c.(2653-2655)TTT>TTC	p.F885F	CHL1_uc003bot.2_Silent_p.F901F|CHL1_uc003bow.1_Silent_p.F885F|CHL1_uc011asi.1_Silent_p.F901F	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	885	Fibronectin type-III 3.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGATGCCTTTAGTGAATTTC	0.383		NaN											0	0	0	0.004007	0	13	46				
CNTN6	27255	broad.mit.edu	37	3	1367618	1367618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:1367618G>A	uc003boz.2	+	9	1333	c.1066G>A	c.(1066-1068)GAA>AAA	p.E356K	CNTN6_uc011asj.1_Missense_Mutation_p.E284K|CNTN6_uc003bpa.2_Missense_Mutation_p.E356K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	356	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAAATGGTGAACGACTCAA	0.353		NaN											0	0	0	0.004672	0	3	56				
C3orf20	84077	broad.mit.edu	37	3	14798893	14798893	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:14798893G>A	uc003byy.2	+	13	2360	c.1956G>A	c.(1954-1956)GAG>GAA	p.E652E	C3orf20_uc003byz.2_Silent_p.E530E|C3orf20_uc003bza.2_Silent_p.E530E|C3orf20_uc003bzb.1_Silent_p.E153E|C3orf20_uc011avj.1_5'UTR	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	652						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						AGGCCCGCGAGGGGCGCAGCC	0.667		NaN											0	0	0	0.004672	0	3	13				
SLC4A7	9497	broad.mit.edu	37	3	27436152	27436152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27436152G>A	uc003cdv.2	-	20	3018	c.2947C>T	c.(2947-2949)CAT>TAT	p.H983Y	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.H864Y|SLC4A7_uc011aww.1_Missense_Mutation_p.H992Y|SLC4A7_uc011awx.1_Missense_Mutation_p.H979Y|SLC4A7_uc011awy.1_Missense_Mutation_p.H975Y|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.H864Y|SLC4A7_uc011axb.1_Missense_Mutation_p.H979Y|SLC4A7_uc010hfl.2_Missense_Mutation_p.H533Y|SLC4A7_uc003cdw.2_Missense_Mutation_p.H859Y	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	983	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CTGTTGACATGACTTATTGAC	0.443		NaN											0	0	0	0.00278	0	19	77				
EOMES	8320	broad.mit.edu	37	3	27763709	27763709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27763709C>T	uc003cdx.2	-	1	77	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	EOMES_uc003cdy.3_Missense_Mutation_p.R26Q|EOMES_uc010hfn.2_Missense_Mutation_p.R26Q|EOMES_uc011axc.1_Intron	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	26					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						GCTGCCGCCTCGCGCACTCTC	0.637		NaN											0	0	0	0.009096	0	4	9				
ZNF35	7584	broad.mit.edu	37	3	44700638	44700638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:44700638G>C	uc003cnq.2	+	4	1004	c.783G>C	c.(781-783)CAG>CAC	p.Q261H	ZNF35_uc003cnr.2_Missense_Mutation_p.Q101H	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	261	C2H2-type 2.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTCATTCAGAGTGCAAACC	0.458		NaN											0	0	0	0.004482	0	7	55				
LRRC2	79442	broad.mit.edu	37	3	46586552	46586552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46586552G>A	uc010hji.2	-	3	681	c.317C>T	c.(316-318)TCT>TTT	p.S106F	LRRC2_uc003cpu.3_Missense_Mutation_p.S106F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	106										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTGCTCCCCAGAAAGTTCAAA	0.537		NaN											0	0	0	0.012213	0	26	276				
ALS2CL	259173	broad.mit.edu	37	3	46712990	46712990	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46712990G>A	uc003cqa.1	-	25	2959	c.2769C>T	c.(2767-2769)CTC>CTT	p.L923L	ALS2CL_uc003cpx.1_Silent_p.L270L|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Silent_p.L438L|ALS2CL_uc003cqb.1_Silent_p.L923L|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	923	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGGGCTGTGAGCAGGAAGT	0.592		NaN											0	0	0	0.000602	0	5	68				
SETD2	29072	broad.mit.edu	37	3	47155366	47155366	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47155366G>A	uc003cqs.2	-	5	4768	c.4715C>T	c.(4714-4716)TCG>TTG	p.S1572L	SETD2_uc003cqv.2_Missense_Mutation_p.S1561L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1572	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGAACTTACGAAGGAAGGTC	0.279		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.004672	0	3	56		Valid		
SMARCC1	6599	broad.mit.edu	37	3	47777526	47777526	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47777526G>C	uc003crq.2	-	5	692	c.574C>G	c.(574-576)CAG>GAG	p.Q192E	SMARCC1_uc011bbd.1_Missense_Mutation_p.Q83E	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	192					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTATTACCTGATGTCGTTTG	0.348		NaN											0	0	0	0.009096	0	3	58		Valid		
QRICH1	54870	broad.mit.edu	37	3	49114384	49114384	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49114384G>A	uc010hkq.2	-	3	363	c.67C>T	c.(67-69)CCG>TCG	p.P23S	QRICH1_uc003cvu.2_Missense_Mutation_p.P23S|QRICH1_uc003cvv.2_Missense_Mutation_p.P23S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	23	CARD.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGTGTTGCGGGACAGACCGT	0.488		NaN											0	0	0	0.004672	0	3	139				
APEH	327	broad.mit.edu	37	3	49716346	49716346	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49716346G>A	uc003cxf.2	+	12	1522	c.1122G>A	c.(1120-1122)CAG>CAA	p.Q374Q	APEH_uc010hkw.1_Silent_p.Q374Q	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	374					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGACAGCCAGAGAGTGGTCT	0.602		NaN											0	0	0	0.004482	0	7	91				
SLC38A3	10991	broad.mit.edu	37	3	50252990	50252990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50252990G>A	uc003cyn.3	+	6	529	c.388G>A	c.(388-390)GAG>AAG	p.E130K	SLC38A3_uc011bdl.1_Missense_Mutation_p.E105K|SLC38A3_uc011bdm.1_Missense_Mutation_p.E61K	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	130					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCGTGCCTATGAGCAGCTGGG	0.627		NaN											0	0	0	0.000602	0	4	52				
IFRD2	7866	broad.mit.edu	37	3	50327428	50327428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50327428G>A	uc011bdp.1	-	5	799	c.670C>T	c.(670-672)CAC>TAC	p.H224Y	IFRD2_uc003czb.2_Missense_Mutation_p.H326Y	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	224							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCAGGCTGTGAAACAGCTCC	0.637		NaN											0	0	0	0.000602	0	5	14				
CISH	1154	broad.mit.edu	37	3	50645378	50645378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50645378G>A	uc003dax.2	-	3	618	c.437C>T	c.(436-438)TCC>TTC	p.S146F	CISH_uc010hlq.2_Missense_Mutation_p.S163F	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN	cytokine-inducible SH2-containing protein	146	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular					0				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGGCCTGGACAAGCAGTT	0.582		NaN											0	0	0	0.004672	0	3	44				
RAD54L2	23132	broad.mit.edu	37	3	51664777	51664777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:51664777G>A	uc011bdt.1	+	6	780	c.655G>A	c.(655-657)GAA>AAA	p.E219K	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	219						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACAGCAGTGAATCTGTCAG	0.488		NaN											0	0	0	0.001168	0	4	36				
PPM1M	132160	broad.mit.edu	37	3	52282434	52282434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52282434G>C	uc003ddf.3	+	6	761	c.396G>C	c.(394-396)CAG>CAC	p.Q132H	PPM1M_uc011bed.1_Missense_Mutation_p.Q293H|PPM1M_uc010hmd.2_Missense_Mutation_p.Q132H|PPM1M_uc003ddg.3_Missense_Mutation_p.Q81H|PPM1M_uc003ddh.3_5'Flank			Q96MI6	PPM1M_HUMAN	RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;	132	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding				0				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACTTGGGACAGAAGGTTTTGT	0.612		NaN											0	0	0	0.009096	0	3	27				
ITIH3	3699	broad.mit.edu	37	3	52835027	52835027	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52835027C>T	uc003dfv.2	+	11	1284	c.1248C>T	c.(1246-1248)ATC>ATT	p.I416I	ITIH3_uc011bek.1_Silent_p.I416I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	416	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAATGCCATCGGGGGCAAGT	0.542		NaN											0	0	0	0.007291	0	25	172				
OR5K1	26339	broad.mit.edu	37	3	98189002	98189002	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:98189002C>T	uc003dsm.2	+	1	582	c.582C>T	c.(580-582)ATC>ATT	p.I194I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						ATCCTTATATCAATGAACTGG	0.333		NaN											0	0	0	0.00245	0	14	159				
GUCA1C	9626	broad.mit.edu	37	3	108626914	108626914	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:108626914G>T	uc003dxj.2	-	4	653	c.585C>A	c.(583-585)TCC>TCA	p.S195S	GUCA1C_uc003dxk.2_3'UTR	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	195					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CAGGAGATTTGGAGGAGTCTG	0.453		NaN											1	0	7.03913e-09	0.013537	7.63739e-09	7	38				
PHLDB2	90102	broad.mit.edu	37	3	111603863	111603863	+	Silent	SNP	C	C	T	rs142557577		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:111603863C>T	uc010hqa.2	+	2	1350	c.939C>T	c.(937-939)CCC>CCT	p.P313P	PHLDB2_uc003dyc.2_Silent_p.P340P|PHLDB2_uc003dyd.2_Silent_p.P313P|PHLDB2_uc003dyg.2_Silent_p.P313P|PHLDB2_uc003dyh.2_Silent_p.P313P|PHLDB2_uc003dye.3_Silent_p.P313P|PHLDB2_uc003dyf.3_Silent_p.P313P	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	313						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						GGGCTTTACCCTATAAAACCT	0.448		NaN											0	0	0	0.001855	0	12	53				
UROC1	131669	broad.mit.edu	37	3	126208126	126208126	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:126208126G>A	uc003eiz.1	-	17	1733	c.1701C>T	c.(1699-1701)TTC>TTT	p.F567F	UROC1_uc010hsi.1_Silent_p.F627F	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	567					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		CACCTGCACAGAAGGCAGAGC	0.468		NaN											0	0	0	0.003163	0	10	145				
AMOTL2	51421	broad.mit.edu	37	3	134085127	134085127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134085127C>G	uc003eqf.2	-	4	1475	c.1358G>C	c.(1357-1359)AGA>ACA	p.R453T	AMOTL2_uc003eqg.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqh.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqe.1_Missense_Mutation_p.R20T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	395	Potential.									large_intestine(1)	1						GCTCTCACCTCTAAGATCCCG	0.498		NaN											0	0	0	0.01441	0	39	359				
EPHB1	2047	broad.mit.edu	37	3	134851765	134851765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134851765G>T	uc003eqt.2	+	5	1391	c.1171G>T	c.(1171-1173)GTC>TTC	p.V391F	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	391	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GGAGTGCCGCGTCTCCATCAG	0.622		NaN											1	0	5.18039e-06	0.00308	5.51105e-06	7	39				
PRR23A	729627	broad.mit.edu	37	3	138724624	138724624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:138724624C>T	uc011bms.1	-	1	487	c.487G>A	c.(487-489)GAG>AAG	p.E163K		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	proline rich 23A	163											0						TCCGGAAACTCGGGGTCCGCG	0.657		NaN											0	0	0	0.009096	0	4	20				
CPB1	1360	broad.mit.edu	37	3	148562481	148562481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:148562481G>C	uc003ewl.2	+	8	728	c.705G>C	c.(703-705)AAG>AAC	p.K235N		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	235					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGGAGAAAGACTCGCTCCA	0.438		NaN											0	0	0	0.004482	0	7	105				
WWTR1	25937	broad.mit.edu	37	3	149245664	149245664	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:149245664C>T	uc003exe.2	-	4	880	c.864G>A	c.(862-864)ATG>ATA	p.M288I	WWTR1_uc003exf.2_Missense_Mutation_p.M288I|WWTR1_uc011bns.1_Missense_Mutation_p.M288I|WWTR1_uc003exh.2_Missense_Mutation_p.M288I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	288					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGATGGATCTCATGTCTGGGG	0.463		NaN											0	0	0	0.003163	0	14	201				
MED12L	116931	broad.mit.edu	37	3	150906195	150906195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:150906195C>T	uc003eyp.2	+	12	1719	c.1681C>T	c.(1681-1683)CTT>TTT	p.L561F	MED12L_uc011bnz.1_Missense_Mutation_p.L421F|MED12L_uc003eyn.2_Missense_Mutation_p.L561F|MED12L_uc003eyo.2_Missense_Mutation_p.L561F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	561					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCATCCTCTCTTGCTGGATC	0.373		NaN											0	0	0	0.001984	0	5	66				
RAP2B	5912	broad.mit.edu	37	3	152880590	152880590	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:152880590C>T	uc003ezr.2	+	1	562	c.108C>T	c.(106-108)ATC>ATT	p.I36I		NM_002886	NP_002877	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family precursor	36	Effector region (Probable).				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			lung(2)	2			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCCGACCATCGAAGACTTTT	0.627		NaN											0	0	0	0.008291	0	9	117				
PTX3	5806	broad.mit.edu	37	3	157160451	157160451	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:157160451G>A	uc003fbl.3	+	3	972	c.829G>A	c.(829-831)GAG>AAG	p.E277K	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	277	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGGAATTCAGAGGAAGGGCT	0.537		NaN											0	0	0	0.009096	0	3	71				
SI	6476	broad.mit.edu	37	3	164724636	164724636	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:164724636G>T	uc003fei.2	-	37	4436	c.4374C>A	c.(4372-4374)CTC>CTA	p.L1458L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1458	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCATCCATAGAGATTGTGAA	0.348		NaN								HNSCC(35;0.089)			1	0	0.00116845	0.001168	0.00119841	5	58				
BCHE	590	broad.mit.edu	37	3	165548711	165548711	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:165548711C>G	uc003fem.3	-	2	271	c.111G>C	c.(109-111)AAG>AAC	p.K37N	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	37					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTTTTCCATTCTTTGTTGCAA	0.408		NaN											0	0	0	0.000602	0	3	44				
NAALADL2	254827	broad.mit.edu	37	3	174951896	174951896	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:174951896C>T	uc003fit.2	+	3	808	c.721C>T	c.(721-723)CAT>TAT	p.H241Y	NAALADL2_uc003fiu.1_Missense_Mutation_p.H234Y|NAALADL2_uc010hwy.1_Missense_Mutation_p.H63Y	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	241	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAATGCTTTCATCCTAATGG	0.488		NaN											0	0	0	0.00278	0	22	102				
ZMAT3	64393	broad.mit.edu	37	3	178742989	178742989	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:178742989C>A	uc003fjg.2	-	6	945	c.686G>T	c.(685-687)CGG>CTG	p.R229L	ZMAT3_uc010hxa.2_Missense_Mutation_p.R228L|ZMAT3_uc003fji.2_Missense_Mutation_p.R228L	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	229					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AATTCTCTGCCGAGAGCGGGG	0.418		NaN											1	0	0.00024832	0.009096	0.000257326	4	22				
PEX5L	51555	broad.mit.edu	37	3	179597763	179597763	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:179597763C>T	uc003fki.1	-	5	589	c.459G>A	c.(457-459)CAG>CAA	p.Q153Q	PEX5L_uc011bqd.1_Silent_p.Q110Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Silent_p.Q118Q|PEX5L_uc010hxd.1_Silent_p.Q151Q|PEX5L_uc011bqg.1_Silent_p.Q129Q|PEX5L_uc011bqh.1_Silent_p.Q94Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	153					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTGGCCTCTCTGCTCAGCAT	0.512		NaN											0	0	0	0.013537	0	9	72				
B3GNT5	84002	broad.mit.edu	37	3	182987890	182987890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182987890G>A	uc003flk.2	+	2	834	c.304G>A	c.(304-306)GAT>AAT	p.D102N	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.D102N|B3GNT5_uc003flm.2_Missense_Mutation_p.D102N	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	102	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAACTATGATCGACGTTC	0.438		NaN											0	0	0	0.000602	0	5	67				
B3GNT5	84002	broad.mit.edu	37	3	182988156	182988156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988156G>C	uc003flk.2	+	2	1100	c.570G>C	c.(568-570)ATG>ATC	p.M190I	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.M190I|B3GNT5_uc003flm.2_Missense_Mutation_p.M190I	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	190	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATTTCTTATGACTGCTGATG	0.353		NaN											0	0	0	0.013537	0	12	152				
B3GNT5	84002	broad.mit.edu	37	3	182988310	182988310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988310G>A	uc003flk.2	+	2	1254	c.724G>A	c.(724-726)GAA>AAA	p.E242K	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.E242K|B3GNT5_uc003flm.2_Missense_Mutation_p.E242K	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	242	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGTCCTATGAAATGTACCA	0.463		NaN											0	0	0	0.001168	0	5	88				
B3GNT5	84002	broad.mit.edu	37	3	182988588	182988588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988588G>C	uc003flk.2	+	2	1532	c.1002G>C	c.(1000-1002)AAG>AAC	p.K334N	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.K334N|B3GNT5_uc003flm.2_Missense_Mutation_p.K334N	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	334	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTTTGGAAGAATGCTACAG	0.343		NaN											0	0	0	0.000602	0	4	33				
AHSG	197	broad.mit.edu	37	3	186331033	186331033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:186331033C>T	uc003fqk.3	+	1	184	c.103C>T	c.(103-105)CCA>TCA	p.P35S	AHSG_uc003fqj.2_Missense_Mutation_p.P35S|AHSG_uc003fql.3_Missense_Mutation_p.P35S|AHSG_uc003fqm.3_Missense_Mutation_p.P35S|AHSG_uc010hyp.2_Missense_Mutation_p.P35S	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	35	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTGCGATGATCCAGAAACTGA	0.502		NaN											0	0	0	0.001984	0	7	53				
KIAA1530	57654	broad.mit.edu	37	4	1347046	1347046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1347046C>T	uc003gde.3	+	5	1226	c.779C>T	c.(778-780)TCT>TTT	p.S260F		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	260											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CTGCCTGCCTCTGCAGGCCAC	0.706		NaN											0	0	0	0.004672	0	3	17				
WHSC1	7468	broad.mit.edu	37	4	1957023	1957023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1957023A>C	uc003gdz.3	+	13	2650	c.2474A>C	c.(2473-2475)CAC>CCC	p.H825P	WHSC1_uc003geb.3_Missense_Mutation_p.H825P|WHSC1_uc003gec.3_Missense_Mutation_p.H825P|WHSC1_uc003ged.3_Missense_Mutation_p.H825P|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.H44P|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.H173P	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	825					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGAAGCGACACCACGCCCAC	0.612		NaN	T	IGH@	MM								0	0	0	0.013537	0	10	40				
SEL1L3	23231	broad.mit.edu	37	4	25849234	25849234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:25849234G>A	uc003gru.3	-	2	567	c.415C>T	c.(415-417)CAC>TAC	p.H139Y		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	139						integral to membrane	binding				0						CTGCTGGTGTGAAGATGTTTC	0.388		NaN											0	0	0	0.001168	0	5	41				
ARAP2	116984	broad.mit.edu	37	4	36212143	36212143	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:36212143C>G	uc003gsq.1	-	6	1694	c.1356G>C	c.(1354-1356)CCG>CCC	p.P452P	ARAP2_uc003gsr.1_Silent_p.P452P	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	452					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTGAGCTTAACGGATAACTGT	0.383		NaN											0	0	0	0.006214	0	7	67				
TBC1D1	23216	broad.mit.edu	37	4	38037247	38037247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:38037247G>C	uc003gtb.2	+	8	1684	c.1341G>C	c.(1339-1341)TTG>TTC	p.L447F	TBC1D1_uc011byd.1_Missense_Mutation_p.L447F|TBC1D1_uc010ifd.2_Missense_Mutation_p.L194F|TBC1D1_uc011byf.1_Missense_Mutation_p.L318F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	447						nucleus	Rab GTPase activator activity			ovary(1)	1						AGAATGAATTGATTATTTCTT	0.333		NaN											0	0	0	0.006214	0	8	36				
WDR19	57728	broad.mit.edu	37	4	39254832	39254832	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39254832G>C	uc003gtv.2	+	25	2950	c.2796G>C	c.(2794-2796)CTG>CTC	p.L932L	WDR19_uc011byi.1_Silent_p.L772L|WDR19_uc003gtw.1_Silent_p.L529L	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	932					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GCATCTATCTGGATCACCTCA	0.348		NaN											0	0	0	0.006214	0	8	56				
GABRA2	2555	broad.mit.edu	37	4	46390673	46390673	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46390673G>A	uc003gxc.3	-	1	724	c.51C>T	c.(49-51)TTC>TTT	p.F17F	GABRA2_uc010igc.2_Silent_p.F17F|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Silent_p.F17F|GABRA2_uc010igd.1_Silent_p.F17F	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	17					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCACACCAAGAAAACAAAAA	0.363		NaN											0	0	0	0.013537	0	9	120				
GABRA4	2557	broad.mit.edu	37	4	46973161	46973161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46973161C>T	uc003gxg.2	-	7	952	c.813G>A	c.(811-813)GTG>GTA	p.V271V		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	271	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGAAAGAATCACTGTCATAA	0.363		NaN											0	0	0	0.004482	0	9	32				
EPHA5	2044	broad.mit.edu	37	4	66280023	66280023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:66280023C>T	uc003hcy.2	-	7	1859	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K	EPHA5_uc003hcx.2_Missense_Mutation_p.E487K|EPHA5_uc003hcz.2_Missense_Mutation_p.E556K|EPHA5_uc011cah.1_Missense_Mutation_p.E556K|EPHA5_uc011cai.1_Missense_Mutation_p.E556K|EPHA5_uc003hda.2_Missense_Mutation_p.E556K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	556	Extracellular (Potential).|Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GTTTCAAACTCAAATCTTCGA	0.438		NaN								TSP Lung(17;0.13)			0	0	0	0.003163	0	9	74				
YTHDC1	91746	broad.mit.edu	37	4	69188522	69188522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:69188522G>A	uc003hdx.2	-	11	1899	c.1546C>T	c.(1546-1548)CAG>TAG	p.Q516*	YTHDC1_uc003hdy.2_Nonsense_Mutation_p.Q498*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	516	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						GATCGGGGCTGAGAATGCATT	0.463		NaN											0	0	0	0.010729	0	12	69				
UGT2B10	7365	broad.mit.edu	37	4	69874575	69874575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:69874575G>T	uc011cao.1	-	8	1332	c.1196C>A	c.(1195-1197)TCA>TAA	p.S399*	UGT2B10_uc011can.1_Nonsense_Mutation_p.S315*			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TTCTACTCACGAAGGATCATT	0.368		NaN											1	0	5.82388e-19	0.01441	6.43523e-19	45	105				
MUC7	4589	broad.mit.edu	37	4	71339777	71339777	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71339777G>A	uc011cat.1	+	3	327	c.39G>A	c.(37-39)CTG>CTA	p.L13L	MUC7_uc011cau.1_Silent_p.L13L|MUC7_uc003hfj.2_Silent_p.L13L	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	13						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			TCTGTGCACTGAGTGCTTGCT	0.373		NaN											0	0	0	0.010729	0	9	68				
MUC7	4589	broad.mit.edu	37	4	71347324	71347324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71347324C>T	uc011cat.1	+	4	1151	c.863C>T	c.(862-864)TCT>TTT	p.S288F	MUC7_uc011cau.1_Missense_Mutation_p.S288F|MUC7_uc003hfj.2_Missense_Mutation_p.S288F|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	288	6.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CCCACACCTTCTGCAACTACA	0.577		NaN											0	0	0	0.004878	0	30	232				
GC	2638	broad.mit.edu	37	4	72623791	72623791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:72623791C>T	uc003hge.2	-	7	952	c.799G>A	c.(799-801)GAG>AAG	p.E267K	GC_uc003hgd.2_Missense_Mutation_p.E145K|GC_uc010iie.2_Missense_Mutation_p.E267K|GC_uc010iif.2_Missense_Mutation_p.E286K	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	267	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GAGGCAGACTCACAGCATTTG	0.338		NaN											0	0	0	0.013537	0	13	77				
CDKL2	8999	broad.mit.edu	37	4	76523333	76523333	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76523333T>A	uc003hiq.2	-	8	1473	c.948A>T	c.(946-948)AAA>AAT	p.K316N	CDKL2_uc011cbp.1_Missense_Mutation_p.K316N|CDKL2_uc010iix.1_RNA	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	316					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGTTTTGGGATTTTTTAGATA	0.274		NaN											0	0	0	0.00308	0	4	38				
G3BP2	9908	broad.mit.edu	37	4	76572312	76572312	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76572312C>G	uc003hir.2	-	10	1123	c.958G>C	c.(958-960)GAC>CAC	p.D320H	G3BP2_uc003his.2_Missense_Mutation_p.D320H|G3BP2_uc003hit.2_Missense_Mutation_p.D287H	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	320					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTACGGTTGTCAGAGTCATTC	0.343		NaN											0	0	0	0.004007	0	12	105				
SHROOM3	57619	broad.mit.edu	37	4	77691979	77691979	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:77691979C>T	uc011cbx.1	+	10	6503	c.5550C>T	c.(5548-5550)TCC>TCT	p.S1850S	SHROOM3_uc003hkg.2_Silent_p.S1628S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1850	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TGCTGCTCTCCCTCTCGGGGC	0.522		NaN											0	0	0	0.004656	0	24	103				
WDFY3	23001	broad.mit.edu	37	4	85638082	85638082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:85638082G>C	uc003hpd.2	-	49	8250	c.7842C>G	c.(7840-7842)ATC>ATG	p.I2614M	WDFY3_uc003hpe.1_Missense_Mutation_p.I225M	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2614						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTCCTTGATATCTTCAT	0.368		NaN											0	0	0	0.004289	0	27	117				
MTTP	4547	broad.mit.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:100530103C>G	uc003hvc.3	+	13	1994	c.1738C>G	c.(1738-1740)CAA>GAA	p.Q580E	MTTP_uc011cej.1_Missense_Mutation_p.Q607E	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	580	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGCCATTGTTCAAGACATCCT	0.403		NaN											0	0	0	0.003954	0	20	100				
CASP6	839	broad.mit.edu	37	4	110612078	110612078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110612078C>T	uc003hzn.1	-	6	649	c.571G>A	c.(571-573)GAG>AAG	p.E191K	CASP6_uc003hzo.1_Missense_Mutation_p.E102K	NM_001226	NP_001217	P55212	CASP6_HUMAN	caspase 6 isoform alpha preproprotein	191					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCATCCACCTCAGTTATGTTG	0.468		NaN											0	0	0	0.006122	0	15	80				
EGF	1950	broad.mit.edu	37	4	110864425	110864425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110864425G>C	uc003hzy.3	+	3	795	c.343G>C	c.(343-345)GAG>CAG	p.E115Q	EGF_uc011cfu.1_Missense_Mutation_p.E115Q|EGF_uc011cfv.1_Missense_Mutation_p.E115Q	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	115	LDL-receptor class B 1.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATGTAATATAGAGAAAAATGT	0.249		NaN											0	0	0	0.00308	0	8	69				
C4orf21	55345	broad.mit.edu	37	4	113524748	113524748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:113524748C>T	uc003iau.2	-	10	3119	c.2908G>A	c.(2908-2910)GAG>AAG	p.E970K	C4orf21_uc003iaw.2_Missense_Mutation_p.E970K	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCATACTCAGTGCTATCT	0.403		NaN											0	0	0	0.004007	0	12	72				
FAT4	79633	broad.mit.edu	37	4	126371442	126371442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:126371442C>T	uc003ifj.3	+	9	9271	c.9271C>T	c.(9271-9273)CAA>TAA	p.Q3091*	FAT4_uc011cgp.1_Nonsense_Mutation_p.Q1389*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q569*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3091	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAATTCTCTCAAAGCCACAT	0.458		NaN											0	0	0	0.004482	0	7	47				
HSPA4L	22824	broad.mit.edu	37	4	128722376	128722376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:128722376G>A	uc003ifm.2	+	5	766	c.513G>A	c.(511-513)ATG>ATA	p.M171I	HSPA4L_uc010iny.1_Missense_Mutation_p.M130I|HSPA4L_uc011cgr.1_Missense_Mutation_p.M138I	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	171					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAAGGTTGATGAATGAAACTA	0.328		NaN											0	0	0	0.008291	0	8	34				
DCHS2	54798	broad.mit.edu	37	4	155157962	155157962	+	Silent	SNP	G	G	T	rs138701263	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:155157962G>T	uc003inw.2	-	25	6477	c.6477C>A	c.(6475-6477)GTC>GTA	p.V2159V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2159	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATAACCGACTTGCTTAT	0.403		NaN											1	0	0.000442599	0.006214	0.000456288	8	53				
IRF2	3660	broad.mit.edu	37	4	185340623	185340623	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:185340623C>T	uc003iwf.3	-	3	387	c.187G>A	c.(187-189)GGA>AGA	p.G63R		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	63	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTTAGTACCTGTATGGATT	0.433		NaN											0	0	0	0.003271	0	26	92				
KIAA1430	57587	broad.mit.edu	37	4	186111383	186111383	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:186111383G>A	uc003ixf.3	-	2	1115	c.968C>T	c.(967-969)TCG>TTG	p.S323L	KIAA1430_uc003ixg.2_Missense_Mutation_p.S323L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	323											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CACTGAAGACGACTTTGAGGA	0.338		NaN											0	0	0	0.009096	0	4	25				
SLC12A7	10723	broad.mit.edu	37	5	1076861	1076861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:1076861C>T	uc003jbu.2	-	13	1762	c.1696G>A	c.(1696-1698)GAG>AAG	p.E566K		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	566	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCCAGTCTCGCAGATGAGG	0.652		NaN											0	0	0	0.001984	0	6	77				
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239387C>T	uc003jdl.2	+	15	2416	c.2278C>T	c.(2278-2280)CAG>TAG	p.Q760*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q760*|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	760	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CCACACCAACCGTGAGTACTT	0.512		NaN											0	0	0	0.00499	0	16	120				
ADAMTS16	170690	broad.mit.edu	37	5	5239993	5239993	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239993G>A	uc003jdl.2	+	16	2616	c.2478G>A	c.(2476-2478)GAG>GAA	p.E826E	ADAMTS16_uc003jdk.1_Silent_p.E826E	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	826	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ATGAGCCCGAGAACTTAATCG	0.517		NaN											0	0	0	0.00308	0	7	138				
DNAH5	1767	broad.mit.edu	37	5	13735275	13735275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:13735275C>T	uc003jfd.2	-	68	11768	c.11726G>A	c.(11725-11727)CGA>CAA	p.R3909Q	DNAH5_uc003jfc.2_Missense_Mutation_p.R77Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3909					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATGCTTGACTCGGTTCCTCTG	0.438		NaN							Kartagener_syndrome				0	0	0	0.010729	0	8	110				
TRIO	7204	broad.mit.edu	37	5	14304625	14304625	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:14304625C>T	uc003jff.2	+	8	1430	c.1424C>T	c.(1423-1425)TCA>TTA	p.S475L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S426L|TRIO_uc003jfh.1_Missense_Mutation_p.S124L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	475					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACCTTCCCTCAGAGCTGCAG	0.393		NaN											0	0	0	0.010729	0	10	186				
NPR3	4883	broad.mit.edu	37	5	32712174	32712174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:32712174C>T	uc003jhv.2	+	1	510	c.292C>T	c.(292-294)CGC>TGC	p.R98C	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R98C	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	98	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GCCGGGCACTCGCTTCCAGGT	0.662		NaN											0	0	0	0.009096	0	3	46				
BRIX1	55299	broad.mit.edu	37	5	34924954	34924954	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:34924954C>T	uc003jja.2	+	9	690	c.666C>T	c.(664-666)ATC>ATT	p.I222I		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	222	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						TATTAAAGATCATAGAAGAAG	0.323		NaN											0	0	0	0.009096	0	3	48				
C5orf42	65250	broad.mit.edu	37	5	37180226	37180226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:37180226G>A	uc011cpa.1	-	28	5861	c.5630C>T	c.(5629-5631)TCC>TTC	p.S1877F	C5orf42_uc011coy.1_Missense_Mutation_p.S377F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S952F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1877										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGAGTGATGGAAATAATATC	0.284		NaN											0	0	0	0.004672	0	3	55				
PARP8	79668	broad.mit.edu	37	5	49963917	49963917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:49963917C>T	uc003jon.3	+	3	286	c.104C>T	c.(103-105)TCT>TTT	p.S35F	PARP8_uc011cpz.1_5'UTR|PARP8_uc003joo.2_Missense_Mutation_p.S35F|PARP8_uc003jop.2_Missense_Mutation_p.S35F	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	35						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCAGATACTCTGACTCCACC	0.453		NaN											0	0	0	0.00308	0	6	86				
ITGA2	3673	broad.mit.edu	37	5	52355784	52355784	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:52355784C>T	uc003joy.2	+	11	1397	c.1254C>T	c.(1252-1254)ATC>ATT	p.I418I	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.I342I|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	418	Extracellular (Potential).|FG-GAP 3.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCATTTGATCTTTCCTAAAC	0.408		NaN											0	0	0	0.009096	0	4	41				
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:63257013C>A	uc011cqt.1	-	1	534	c.534G>T	c.(532-534)CCG>CCT	p.P178P		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	178	Helical; Name=4; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCGGTCTTCCGGGGTGCGCC	0.597		NaN											1	0	2.51541e-25	0.004878	2.78973e-25	29	143				
VCAN	1462	broad.mit.edu	37	5	82833887	82833887	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82833887A>G	uc003kii.3	+	8	5421	c.5065A>G	c.(5065-5067)ATT>GTT	p.I1689V	VCAN_uc003kij.3_Missense_Mutation_p.I702V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I353V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1689	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACCACCATTTATCCAGT	0.398		NaN											0	0	0	0.006122	0	14	72				
VCAN	1462	broad.mit.edu	37	5	82835572	82835572	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82835572G>A	uc003kii.3	+	8	7106	c.6750G>A	c.(6748-6750)GAG>GAA	p.E2250E	VCAN_uc003kij.3_Silent_p.E1263E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.E914E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2250	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGATACTGAGCTCTTATTCT	0.378		NaN											0	0	0	0.00499	0	15	44				
GPR98	84059	broad.mit.edu	37	5	90149230	90149230	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:90149230G>A	uc003kju.2	+	80	17430	c.17334G>A	c.(17332-17334)CTG>CTA	p.L5778L	GPR98_uc003kjt.2_Silent_p.L3484L|GPR98_uc003kjw.2_Silent_p.L1439L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5778	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGCTACTGGATGTCCAGG	0.398		NaN											0	0	0	0.009096	0	4	24				
WDR36	134430	broad.mit.edu	37	5	110440423	110440423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:110440423G>A	uc003kpd.2	+	9	1219	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	368	WD 4.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCTACAGGTGAAGGCCGACT	0.418		NaN											0	0	0	0.006214	0	9	113				
APC	324	broad.mit.edu	37	5	112178932	112178932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:112178932G>A	uc010jby.2	+	16	8021	c.7641G>A	c.(7639-7641)TGG>TGA	p.W2547*	APC_uc011cvt.1_Nonsense_Mutation_p.W2529*|APC_uc003kpz.3_Nonsense_Mutation_p.W2547*|APC_uc003kpy.3_Nonsense_Mutation_p.W2547*|APC_uc010jbz.2_Nonsense_Mutation_p.W2264*|APC_uc010jca.2_Nonsense_Mutation_p.W1847*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2547	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGAACCTGGAAACGTGAGC	0.428		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.001168	0	5	56		Valid		
FBN2	2201	broad.mit.edu	37	5	127704904	127704904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:127704904G>A	uc003kuu.2	-	16	2658	c.2219C>T	c.(2218-2220)CCC>CTC	p.P740L	FBN2_uc003kuv.2_Missense_Mutation_p.P707L	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	740	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGCTGGCAGGGTTCTCCAAA	0.463		NaN											0	0	0	0.00278	0	20	67				
KIF3A	11127	broad.mit.edu	37	5	132046656	132046656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132046656C>T	uc003kxo.2	-	9	1377	c.1223G>A	c.(1222-1224)AGA>AAA	p.R408K	KIF3A_uc003kxn.2_Missense_Mutation_p.R366K|KIF3A_uc011cxf.1_Missense_Mutation_p.R408K|KIF3A_uc003kxp.2_Missense_Mutation_p.R408K	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	408	Potential.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCCCTTCTTTTTTTCCT	0.388		NaN											0	0	0	0.00308	0	4	112				
KIF3A	11127	broad.mit.edu	37	5	132052130	132052130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132052130G>A	uc003kxo.2	-	7	915	c.761C>T	c.(760-762)TCA>TTA	p.S254L	KIF3A_uc003kxn.2_Missense_Mutation_p.S213L|KIF3A_uc011cxf.1_Missense_Mutation_p.S254L|KIF3A_uc003kxp.2_Missense_Mutation_p.S254L	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	254	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTCTTTCTGAACCCTAGCA	0.328		NaN											0	0	0	0.001984	0	4	58				
PCDHB2	56133	broad.mit.edu	37	5	140475294	140475294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140475294A>G	uc003lil.2	+	1	1058	c.920A>G	c.(919-921)CAG>CGG	p.Q307R	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	307	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTAAGACAGAAACTGGAT	0.413		NaN											0	0	0	0.006214	0	7	66				
PCDHGA2	56113	broad.mit.edu	37	5	140719425	140719425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719425C>T	uc003ljk.1	+	1	1072	c.887C>T	c.(886-888)TCA>TTA	p.S296L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S296L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	296	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTTAAGTCAACATCTGGA	0.443		NaN											0	0	0	0.006122	0	15	155				
PCDHGA2	56113	broad.mit.edu	37	5	140719466	140719466	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719466G>A	uc003ljk.1	+	1	1113	c.928G>A	c.(928-930)GAG>AAG	p.E310K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E310K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	310	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGATTATGAGGATGCTAC	0.413		NaN											0	0	0	0.00499	0	13	176				
PCDHGA2	56113	broad.mit.edu	37	5	140720046	140720046	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140720046C>G	uc003ljk.1	+	1	1693	c.1508C>G	c.(1507-1509)TCT>TGT	p.S503C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S503C	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	503	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATCCTCTTACATCTCT	0.522		NaN											0	0	0	0.001168	0	6	57				
ARAP3	64411	broad.mit.edu	37	5	141044642	141044642	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:141044642G>A	uc003llm.2	-	19	2725	c.2647C>T	c.(2647-2649)CTG>TTG	p.L883L	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Silent_p.L545L|ARAP3_uc003lln.2_Silent_p.L785L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	883					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TCTCCTTGCAGATACAGGGTC	0.667		NaN									OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	17				
TIGD6	81789	broad.mit.edu	37	5	149375650	149375650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:149375650C>A	uc003lri.2	-	2	1024	c.262G>T	c.(262-264)GAA>TAA	p.E88*	TIGD6_uc003lrj.2_Nonsense_Mutation_p.E88*	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	88	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCATGGATTTCTTGAAACCAA	0.443		NaN											1	0	1.62565e-12	0.012213	1.78643e-12	28	207				
ATP10B	23120	broad.mit.edu	37	5	160047939	160047939	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:160047939T>C	uc003lym.1	-	15	2678	c.1831A>G	c.(1831-1833)AGC>GGC	p.S611G	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.S169G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	611	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCCTTGCTTGAGGGTTTG	0.463		NaN											0	0	0	0.004656	0	21	218				
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:178555036G>T	uc003mjw.2	-	17	2541	c.2541C>A	c.(2539-2541)AAC>AAA	p.N847K		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587		NaN											1	0	6.72482e-11	0.003163	7.34953e-11	12	93				
MAPK9	5601	broad.mit.edu	37	5	179675973	179675973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:179675973C>T	uc003mls.3	-	6	887	c.616G>A	c.(616-618)GTT>ATT	p.V206I	MAPK9_uc003mlt.3_Missense_Mutation_p.V206I|MAPK9_uc010jlc.2_Missense_Mutation_p.V206M|MAPK9_uc003mlv.3_Missense_Mutation_p.V206M|MAPK9_uc011dgx.1_Missense_Mutation_p.V206I	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	206	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATACTCACCGTTCTCTTTG	0.512		NaN											0	0	0	0.01441	0	34	436				
FLT4	2324	broad.mit.edu	37	5	180048704	180048704	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180048704G>A	uc003mma.3	-	13	1937	c.1858C>T	c.(1858-1860)CTG>TTG	p.L620L	FLT4_uc003mlz.3_Silent_p.L620L|FLT4_uc003mmb.1_Silent_p.L153L|FLT4_uc011dgy.1_Silent_p.L620L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	620	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGCGGCCAGAGGGGTGGCG	0.682		NaN							Congenital_Hereditary_Lymphedema				0	0	0	0.009096	0	4	23				
BTNL9	153579	broad.mit.edu	37	5	180475178	180475178	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180475178C>T	uc003mmt.2	+	3	592	c.361C>T	c.(361-363)CAC>TAC	p.H121Y	BTNL9_uc011dhi.1_Missense_Mutation_p.H52Y	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	121	Extracellular (Potential).|Ig-like V-type.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGCTTCACAGCATCAT	0.607		NaN											0	0	0	0.000602	0	5	32				
WRNIP1	56897	broad.mit.edu	37	6	2769089	2769089	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:2769089G>A	uc003mtz.2	+	2	1178	c.987G>A	c.(985-987)GAG>GAA	p.E329E	WRNIP1_uc003mua.2_Silent_p.E329E	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	329					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATTGATGAGATTCATCGGT	0.229		NaN											0	0	0	0.001984	0	5	30				
RREB1	6239	broad.mit.edu	37	6	7229455	7229455	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7229455G>C	uc003mxc.2	+	10	1513	c.1123G>C	c.(1123-1125)GTC>CTC	p.V375L	RREB1_uc003mxb.2_Missense_Mutation_p.V375L|RREB1_uc010jnx.2_Missense_Mutation_p.V375L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	375					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCAAAGACGTCAGGCCTGC	0.642		NaN											0	0	0	0.009096	0	3	60				
TXNDC5	81567	broad.mit.edu	37	6	7899902	7899902	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7899902G>A	uc003mxv.2	-	3	458	c.426C>T	c.(424-426)TTC>TTT	p.F142F	TXNDC5_uc003mxw.2_Silent_p.F99F|TXNDC5_uc010jnz.2_Silent_p.F34F|TXNDC5_uc010joa.1_Silent_p.F34F	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	142	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					GGCCTGGCTTGAAAAGCTTTA	0.438		NaN											0	0	0	0.008291	0	9	59				
HIVEP1	3096	broad.mit.edu	37	6	12123010	12123010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:12123010G>A	uc003nac.2	+	4	3161	c.2982G>A	c.(2980-2982)ATG>ATA	p.M994I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	994					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGTAGCCATGAGAGAACCTG	0.473		NaN											0	0	0	0.008291	0	9	256				
DHX16	8449	broad.mit.edu	37	6	30627933	30627933	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:30627933G>A	uc003nqz.2	-	10	1843	c.1631C>T	c.(1630-1632)CCT>CTT	p.P544L	DHX16_uc003nqy.2_Missense_Mutation_p.P63L|DHX16_uc011dmo.1_Missense_Mutation_p.P484L	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	544	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						CTTGAGCTCAGGTCGGAAGCG	0.537		NaN											0	0	0	0.001168	0	5	59				
COL11A2	1302	broad.mit.edu	37	6	33146477	33146477	+	Silent	SNP	G	G	A	rs139350991		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:33146477G>A	uc003ocx.1	-	18	1926	c.1698C>T	c.(1696-1698)CTC>CTT	p.L566L	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Silent_p.L480L|COL11A2_uc003ocz.1_Silent_p.L459L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	566	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TCTCTCCAGGGAGCCCTGGGA	0.562		NaN											0	0	0	0.013537	0	10	194				
YIPF3	25844	broad.mit.edu	37	6	43481144	43481144	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:43481144G>C	uc003ovl.1	-	5	644	c.487C>G	c.(487-489)CTG>GTG	p.L163V	C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.L128V|YIPF3_uc010jyr.1_Missense_Mutation_p.L169V|YIPF3_uc010jys.1_Missense_Mutation_p.L6V|YIPF3_uc003ovm.1_Missense_Mutation_p.L37V|YIPF3_uc010jyt.1_Missense_Mutation_p.L112V	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	natural killer cell-specific antigen KLIP1	163	Helical; (Potential).				cell differentiation	integral to membrane|plasma membrane|transport vesicle					0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ATAGCAACCAGAGTGAAGACC	0.473		NaN											0	0	0	0.00308	0	7	43				
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:55360227G>A	uc003pcn.2	-	8	1034	c.875C>T	c.(874-876)ACG>ATG	p.T292M	HMGCLL1_uc003pco.2_Missense_Mutation_p.T262M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.T163M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.T230M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.T159M|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	292							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383		NaN											0	0	0	0.008291	0	8	67				
DST	667	broad.mit.edu	37	6	56334713	56334713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:56334713G>A	uc003pdf.2	-	91	16190	c.16162C>T	c.(16162-16164)CAA>TAA	p.Q5388*	DST_uc003pcz.3_Nonsense_Mutation_p.Q5210*|DST_uc011dxj.1_Nonsense_Mutation_p.Q5239*|DST_uc011dxk.1_Nonsense_Mutation_p.Q5250*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4884*|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'UTR	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7296	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTCAACTTGAAATCGCTTT	0.313		NaN											0	0	0	0.00499	0	11	87				
KCNQ5	56479	broad.mit.edu	37	6	73787121	73787121	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:73787121C>G	uc003pgk.2	+	4	1040	c.693C>G	c.(691-693)CTC>CTG	p.L231L	KCNQ5_uc003pgj.3_Silent_p.L231L|KCNQ5_uc011dyh.1_Silent_p.L231L|KCNQ5_uc011dyi.1_Silent_p.L231L|KCNQ5_uc010kat.2_Silent_p.L231L|KCNQ5_uc011dyj.1_Silent_p.L231L|KCNQ5_uc011dyk.1_5'UTR	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	231	Helical; Voltage-sensor; Name=Segment S4; (Potential).				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGTCTGCACTCAGAAGTCTCC	0.463		NaN											0	0	0	0.004482	0	7	61				
C6orf167	253714	broad.mit.edu	37	6	97613184	97613184	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:97613184C>T	uc003ppb.2	-	21	3425	c.3159G>A	c.(3157-3159)TTG>TTA	p.L1053L	C6orf167_uc011eaf.1_Silent_p.L1013L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1053					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTGTGTTTCTCAATGCCAGCA	0.363		NaN											0	0	0	0.00278	0	18	97				
REV3L	5980	broad.mit.edu	37	6	111702567	111702567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:111702567G>A	uc003puy.3	-	10	1500	c.1177C>T	c.(1177-1179)CAG>TAG	p.Q393*	REV3L_uc003pux.3_Nonsense_Mutation_p.Q315*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q315*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	393					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCAAAGGCTGAAAAGTCTGA	0.343		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.000602	0	5	75				
LAMA4	3910	broad.mit.edu	37	6	112512903	112512903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:112512903C>G	uc003pvu.2	-	6	962	c.653G>C	c.(652-654)GGA>GCA	p.G218A	LAMA4_uc003pvv.2_Missense_Mutation_p.G218A|LAMA4_uc003pvt.2_Missense_Mutation_p.G218A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	218	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACACTTGAATCCGGTGGTGTT	0.488		NaN											0	0	0	0.009096	0	4	51				
GPRC6A	222545	broad.mit.edu	37	6	117128367	117128367	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:117128367C>T	uc003pxj.1	-	3	523	c.501G>A	c.(499-501)GTG>GTA	p.V167V	GPRC6A_uc003pxk.1_Silent_p.V167V|GPRC6A_uc003pxl.1_Silent_p.V167V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	167	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCATAACCCACCTGGAAAT	0.383		NaN											0	0	0	0.001984	0	5	80				
PTPRK	5796	broad.mit.edu	37	6	128326289	128326289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:128326289G>C	uc003qbk.2	-	15	2798	c.2431C>G	c.(2431-2433)CTG>GTG	p.L811V	PTPRK_uc003qbj.2_Missense_Mutation_p.L812V|PTPRK_uc010kfc.2_Missense_Mutation_p.L812V|PTPRK_uc011ebu.1_Missense_Mutation_p.L812V|PTPRK_uc003qbl.1_Missense_Mutation_p.L706V|PTPRK_uc011ebv.1_Missense_Mutation_p.L822V|PTPRK_uc010kfd.1_Missense_Mutation_p.L25V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	811	Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGCATGCAGAGTGCTCTGA	0.393		NaN											0	0	0	0.00308	0	7	54				
SAMD3	154075	broad.mit.edu	37	6	130505642	130505642	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505642C>A	uc003qbv.2	-	7	836	c.510G>T	c.(508-510)ATG>ATT	p.M170I	SAMD3_uc003qbx.2_Missense_Mutation_p.M170I|SAMD3_uc003qbw.2_Missense_Mutation_p.M170I|SAMD3_uc010kfg.1_Missense_Mutation_p.M170I|SAMD3_uc003qby.2_Missense_Mutation_p.M170I|SAMD3_uc003qbz.1_Missense_Mutation_p.M129I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	170										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCCTTATCCTCATGCTGTGAT	0.468		NaN											1	0	0.000274275	0.004482	0.000283733	8	54				
SAMD3	154075	broad.mit.edu	37	6	130505656	130505656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505656G>T	uc003qbv.2	-	7	822	c.496C>A	c.(496-498)CCG>ACG	p.P166T	SAMD3_uc003qbx.2_Missense_Mutation_p.P166T|SAMD3_uc003qbw.2_Missense_Mutation_p.P166T|SAMD3_uc010kfg.1_Missense_Mutation_p.P166T|SAMD3_uc003qby.2_Missense_Mutation_p.P166T|SAMD3_uc003qbz.1_Missense_Mutation_p.P125T	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	166										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTGTGATCCGGGCACTTCTGC	0.453		NaN											1	0	1.23904e-05	0.000602	1.30654e-05	5	57				
ENPP1	5167	broad.mit.edu	37	6	132201159	132201159	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:132201159T>C	uc011ecf.1	+	20	2105	c.2085T>C	c.(2083-2085)TAT>TAC	p.Y695Y		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	695	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGACATCCTATACCGTGGACA	0.403		NaN											0	0	0	0.01441	0	42	192				
PEX7	5191	broad.mit.edu	37	6	137167279	137167279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137167279C>G	uc003qhd.2	+	5	588	c.486C>G	c.(484-486)ATC>ATG	p.I162M	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	162	WD 3.				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		ATAGCACAATCTGGTCTCCCC	0.388		NaN											0	0	0	0.001984	0	5	64				
FUCA2	2519	broad.mit.edu	37	6	143828485	143828485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:143828485C>T	uc003qjm.2	-	2	393	c.301G>A	c.(301-303)GAA>AAA	p.E101K		NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	101					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCAAAATCTTCATATTTGAAA	0.373		NaN											0	0	0	0.008291	0	8	128				
SYNE1	23345	broad.mit.edu	37	6	152702384	152702384	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:152702384C>G	uc010kiw.2	-	56	9368	c.8766G>C	c.(8764-8766)GAG>GAC	p.E2922D	SYNE1_uc003qot.3_Missense_Mutation_p.E2929D|SYNE1_uc003qou.3_Missense_Mutation_p.E2922D|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.E2905D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2922	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCCTGCATCTCCGTGTGCA	0.577		NaN								HNSCC(10;0.0054)			0	0	0	0.00245	0	11	146				
SLC22A1	6580	broad.mit.edu	37	6	160555032	160555032	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160555032C>T	uc003qtc.2	+	4	819	c.714C>T	c.(712-714)ATC>ATT	p.I238I	SLC22A1_uc003qtd.2_Silent_p.I238I	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	238	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CGGTGGCGATCATGTACCAGA	0.632		NaN											0	0	0	0.001984	0	5	66				
LPA	4018	broad.mit.edu	37	6	160978430	160978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160978430G>C	uc003qtl.2	-	30	4925	c.4805C>G	c.(4804-4806)TCT>TGT	p.S1602C		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4110	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACCTGCTTCAGAATGAGCCTC	0.458		NaN											0	0	0	0.006214	0	7	111				
THBS2	7058	broad.mit.edu	37	6	169623568	169623568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:169623568C>A	uc003qwt.2	-	19	3024	c.2776G>T	c.(2776-2778)GAT>TAT	p.D926Y		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	926	TSP type-3 8.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCGTCCATCACCTATGCAC	0.373		NaN											1	0	3.59834e-05	0.001168	3.77448e-05	6	85				
AHR	196	broad.mit.edu	37	7	17382607	17382607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:17382607G>C	uc011jxz.1	+	11	3079	c.2466G>C	c.(2464-2466)CAG>CAC	p.Q822H	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAACACTCAGACTACCACAC	0.368		NaN											0	0	0	0.01441	0	45	149				
NPSR1	387129	broad.mit.edu	37	7	34917785	34917785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:34917785C>T	uc003tei.1	+	9	1251	c.1123C>T	c.(1123-1125)CTT>TTT	p.L375F	NPSR1_uc010kww.1_Missense_Mutation_p.L364F|NPSR1_uc011kar.1_Missense_Mutation_p.L309F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TTCCTGGGCTCTTCCAAGGTG	0.557		NaN											0	0	0	0.009096	0	4	17				
TARP	445347	broad.mit.edu	37	7	38304969	38304969	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:38304969G>C	uc003tge.1	-	5	1115	c.738C>G	c.(736-738)ATC>ATG	p.I246M	uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.I42M|TARP_uc003tgc.1_Missense_Mutation_p.I42M|TARP_uc003tgd.1_Missense_Mutation_p.I42M|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						TTGGAGGAAAGATAATTTCTT	0.348		NaN											0	0	0	0.009096	0	4	33				
PKD1L1	168507	broad.mit.edu	37	7	47898448	47898448	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:47898448G>A	uc003tny.1	-	27	4185	c.4185C>T	c.(4183-4185)TAC>TAT	p.Y1395Y		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1395	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GTGCCCGGGTGTACTTGAGGA	0.502		NaN											0	0	0	0.009096	0	3	49				
ZNF727	442319	broad.mit.edu	37	7	63538396	63538396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:63538396G>A	uc011kdm.1	+	4	1148	c.969G>A	c.(967-969)TGG>TGA	p.W323*		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	zinc finger protein 727	323	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTTATGTGGATCTCGGCCC	0.388		NaN											0	0	0	0.004672	0	3	31				
TPST1	8460	broad.mit.edu	37	7	65705934	65705934	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:65705934C>T	uc003tuw.2	+	2	874	c.522C>T	c.(520-522)TTC>TTT	p.F174F	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Silent_p.F174F|TPST1_uc010laa.2_Silent_p.F174F	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	174	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0						CTAGGTTATTCCCCAATGCCA	0.398		NaN											0	0	0	0.000602	0	5	68				
BAZ1B	9031	broad.mit.edu	37	7	72891929	72891929	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:72891929G>C	uc003tyc.2	-	7	2207	c.1862C>G	c.(1861-1863)TCT>TGT	p.S621C		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	621	DDT.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGTAGCCCAGAATAACAGCT	0.478		NaN											0	0	0	0.000602	0	5	59				
PCLO	27445	broad.mit.edu	37	7	82579161	82579161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:82579161C>T	uc003uhx.2	-	6	11032	c.10743G>A	c.(10741-10743)CTG>CTA	p.L3581L	PCLO_uc003uhv.2_Silent_p.L3581L|PCLO_uc010lec.2_Silent_p.L546L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3512					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATGTGGCACTCAGATATTGAG	0.438		NaN											0	0	0	0.001984	0	7	52				
GRM3	2913	broad.mit.edu	37	7	86469220	86469220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:86469220G>A	uc003uid.2	+	4	3489	c.2390G>A	c.(2389-2391)AGA>AAA	p.R797K	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R669K|GRM3_uc010leh.2_Missense_Mutation_p.R389K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	797	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGTGACTACAGAGTAAGTCTT	0.353		NaN											0	0	0	0.001168	0	5	74				
ADAM22	53616	broad.mit.edu	37	7	87757941	87757941	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:87757941G>C	uc003ujn.2	+	9	782	c.703G>C	c.(703-705)GAA>CAA	p.E235Q	ADAM22_uc003uji.1_Missense_Mutation_p.E234Q|ADAM22_uc003ujj.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujk.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujl.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujm.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujo.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujp.1_Missense_Mutation_p.E287Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	235	Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTAATGTAGAAGAAGAAAC	0.393		NaN											0	0	0	0.008291	0	9	133				
MCM7	4176	broad.mit.edu	37	7	99695470	99695470	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99695470C>G	uc003usw.1	-	8	1482	c.972G>C	c.(970-972)CTG>CTC	p.L324L	MCM7_uc003usv.1_Silent_p.L148L|MCM7_uc003usx.1_Silent_p.L148L	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	324					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAATTTGCCTCAGCTCCTCCC	0.493		NaN											0	0	0	0.010729	0	10	122				
ZCWPW1	55063	broad.mit.edu	37	7	99998716	99998716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99998716C>G	uc003uut.2	-	18	2116	c.1868G>C	c.(1867-1869)AGA>ACA	p.R623T	ZCWPW1_uc011kjq.1_Missense_Mutation_p.R503T|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.R452T|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	623							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAGCTCTCTCCCAACATC	0.622		NaN											0	0	0	0.00308	0	5	53				
GIGYF1	64599	broad.mit.edu	37	7	100283075	100283075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100283075G>A	uc003uwg.1	-	10	2093	c.1084C>T	c.(1084-1086)CAG>TAG	p.Q362*		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	362										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCCTCCTGAGGAGGCAGT	0.627		NaN											0	0	0	0.009096	0	4	30				
MUC17	140453	broad.mit.edu	37	7	100696366	100696366	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100696366G>A	uc003uxp.1	+	10	13256	c.13203G>A	c.(13201-13203)CTG>CTA	p.L4401L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4401	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGTCGTGCTGATGCTGATCA	0.597		NaN											0	0	0	0.001984	0	6	47				
ORC5L	5001	broad.mit.edu	37	7	103848302	103848302	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:103848302G>A	uc003vcb.2	-	1	162	c.51C>T	c.(49-51)ATC>ATT	p.I17I	ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Silent_p.I17I|ORC5L_uc003vcd.2_Silent_p.I17I	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	17					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						AGGACTGCAAGATGGACACTT	0.517		NaN											0	0	0	0.013537	0	11	100				
LAMB1	3912	broad.mit.edu	37	7	107626630	107626630	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:107626630G>T	uc003vew.2	-	6	937	c.602C>A	c.(601-603)ACT>AAT	p.T201N	LAMB1_uc003vev.2_Missense_Mutation_p.T225N|LAMB1_uc003vex.2_Missense_Mutation_p.T201N|LAMB1_uc010ljn.1_Missense_Mutation_p.T287N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	201	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTTCAGTTGAGGGTTC	0.378		NaN											1	0	2.23348e-06	0.004007	2.3845e-06	13	74				
IMMP2L	83943	broad.mit.edu	37	7	110526696	110526696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:110526696C>T	uc003vfq.1	-	5	804	c.361G>A	c.(361-363)GAA>AAA	p.E121K	IMMP2L_uc010ljr.1_Missense_Mutation_p.E121K	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	121					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGATCACCTTCAACCCAGATG	0.403		NaN											0	0	0	0.00308	0	6	73				
EXOC4	60412	broad.mit.edu	37	7	132973814	132973814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:132973814C>G	uc003vrk.2	+	3	450	c.415C>G	c.(415-417)CAA>GAA	p.Q139E	EXOC4_uc011kpo.1_Missense_Mutation_p.Q38E|EXOC4_uc003vri.2_Missense_Mutation_p.Q139E|EXOC4_uc003vrj.2_Missense_Mutation_p.Q139E	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	139					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GCAAGTGCCTCAAAAGCTGGA	0.443		NaN											0	0	0	0.006214	0	8	40				
AKR1D1	6718	broad.mit.edu	37	7	137782615	137782615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:137782615G>A	uc003vtz.2	+	4	451	c.382G>A	c.(382-384)GGA>AGA	p.G128R	AKR1D1_uc011kqb.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqf.1_Missense_Mutation_p.G128R|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	128					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						ttttCAGCCAGGAGATGAAAT	0.234		NaN											0	0	0	0.007291	0	25	74				
JHDM1D	80853	broad.mit.edu	37	7	139826545	139826545	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:139826545G>C	uc003vvm.2	-	6	784	c.780C>G	c.(778-780)GTC>GTG	p.V260V		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	260	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GCTTGGGAAAGACTGAATCAT	0.403		NaN											0	0	0	0.013537	0	13	84				
MGAM	8972	broad.mit.edu	37	7	141752666	141752666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141752666G>A	uc003vwy.2	+	26	3095	c.3041G>A	c.(3040-3042)GGG>GAG	p.G1014E		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1014	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATTCCCATGGGGCCACAGCT	0.463		NaN											0	0	0	0.00278	0	21	103				
MGAM	8972	broad.mit.edu	37	7	141759285	141759285	+	Nonsense_Mutation	SNP	C	C	G	rs146623163	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141759285C>G	uc003vwy.2	+	32	3887	c.3833C>G	c.(3832-3834)TCA>TGA	p.S1278*		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1278	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGCAGTACTCAGACATCGAC	0.567		NaN											0	0	0	0.00308	0	8	24				
ARHGEF35	445328	broad.mit.edu	37	7	143884376	143884376	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:143884376T>G	uc003wdz.1	-	2	1219	c.1101A>C	c.(1099-1101)AAA>AAC	p.K367N		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	367	Glu-rich.										0						CTGGGACCCCTTTCTCCTTTA	0.537		NaN											0	0	0	0.009096	0	4	32				
MLL3	58508	broad.mit.edu	37	7	151927028	151927028	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:151927028G>C	uc003wla.2	-	18	3175	c.2956C>G	c.(2956-2958)CCA>GCA	p.P986A	MLL3_uc003wkz.2_Missense_Mutation_p.P47A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	986	PHD-type 4.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACACAGTATGGATGGTAACAC	0.368		NaN	N		medulloblastoma								0	0	0	0.004656	0	10	403		Inconclusive		
ARHGEF10	9639	broad.mit.edu	37	8	1806263	1806263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:1806263G>A	uc003wpr.2	+	3	353	c.175G>A	c.(175-177)GAA>AAA	p.E59K	ARHGEF10_uc003wpq.1_Missense_Mutation_p.E83K|ARHGEF10_uc003wps.2_Missense_Mutation_p.E59K|ARHGEF10_uc003wpt.2_5'Flank|ARHGEF10_uc010lrd.1_5'Flank|ARHGEF10_uc003wpu.2_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	83					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGAGCCAGTGAAGCCCCTGC	0.338		NaN											0	0	0	0.009096	0	4	24				
ASAH1	427	broad.mit.edu	37	8	17928835	17928835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:17928835C>T	uc003wyl.2	-	3	502	c.190G>A	c.(190-192)GAA>AAA	p.E64K	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.E64K|ASAH1_uc003wyn.2_Missense_Mutation_p.E80K|ASAH1_uc003wyo.2_Missense_Mutation_p.E87K	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	64					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AGCATCAATTCATGCCATCTT	0.299		NaN											0	0	0	0.001984	0	4	22				
RB1CC1	9821	broad.mit.edu	37	8	53586766	53586766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:53586766C>G	uc003xre.3	-	7	1199	c.641G>C	c.(640-642)AGA>ACA	p.R214T	RB1CC1_uc003xrf.3_Missense_Mutation_p.R214T	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	214					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAACATTCTCTGTAACTATG	0.398		NaN											0	0	0	0.006214	0	9	135				
RP1	6101	broad.mit.edu	37	8	55533796	55533796	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:55533796C>T	uc003xsd.1	+	2	418	c.270C>T	c.(268-270)CAC>CAT	p.H90H	RP1_uc011ldy.1_Silent_p.H90H	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	90	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGGCAGGCACAGCATCACGC	0.607		NaN											0	0	0	0.006214	0	8	132				
UBXN2B	137886	broad.mit.edu	37	8	59345738	59345738	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:59345738A>T	uc003xtl.2	+	4	481	c.359A>T	c.(358-360)TAC>TTC	p.Y120F		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	120						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						GGTGGAGGATACAGATTGGGT	0.289		NaN											0	0	0	0.010504	0	15	242				
VCPIP1	80124	broad.mit.edu	37	8	67576615	67576615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:67576615G>A	uc003xwn.2	-	1	2838	c.2579C>T	c.(2578-2580)TCT>TTT	p.S860F		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	860					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTGCAGCAGACTGACCACC	0.428		NaN											0	0	0	0.001984	0	5	96				
FAM82B	51115	broad.mit.edu	37	8	87486538	87486538	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486538C>T	uc003ydu.2	-	10	1104	c.944G>A	c.(943-945)TGA>TAA	p.*315*	FAM82B_uc011lfz.1_Silent_p.*272*|FAM82B_uc011lga.1_Silent_p.*285*	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	315						microtubule|spindle pole	binding			ovary(1)	1						GAAAAGTTCTCAATTCTTCTC	0.299		NaN											0	0	0	0.006214	0	6	95				
FAM82B	51115	broad.mit.edu	37	8	87486543	87486543	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486543C>T	uc003ydu.2	-	10	1099	c.939G>A	c.(937-939)AAG>AAA	p.K313K	FAM82B_uc011lfz.1_Silent_p.K270K|FAM82B_uc011lga.1_Silent_p.K283K	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	313						microtubule|spindle pole	binding			ovary(1)	1						GTTCTCAATTCTTCTCACTGA	0.308		NaN											0	0	0	0.010729	0	9	100				
DCAF4L2	138009	broad.mit.edu	37	8	88885230	88885230	+	Nonsense_Mutation	SNP	C	C	A	rs138662456	by1000genomes	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:88885230C>A	uc003ydz.2	-	1	1067	c.970G>T	c.(970-972)GAA>TAA	p.E324*		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	324	WD 2.									ovary(1)	1						CCTTCTTCTTCGTTCACATGC	0.552		NaN											1	0	0.00448238	0.004482	0.00458947	8	57				
VPS13B	157680	broad.mit.edu	37	8	100712095	100712095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:100712095G>A	uc003yiv.2	+	36	6575	c.6464G>A	c.(6463-6465)TGC>TAC	p.C2155Y	VPS13B_uc003yiw.2_Missense_Mutation_p.C2130Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2155					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCAAACCATGCCTGTTAGCA	0.443		NaN											0	0	0	0.004482	0	8	56				
ODF1	4956	broad.mit.edu	37	8	103564039	103564039	+	Silent	SNP	C	C	T	rs142790437		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:103564039C>T	uc003ykt.2	+	1	192	c.84C>T	c.(82-84)ATC>ATT	p.I28I		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	28					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAGATGCATCGACGAATTTA	0.483		NaN											0	0	0	0.003954	0	25	145				
FZD6	8323	broad.mit.edu	37	8	104337008	104337008	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:104337008G>C	uc003ylh.2	+	4	958	c.674G>C	c.(673-675)AGA>ACA	p.R225T	FZD6_uc003yli.2_Missense_Mutation_p.R225T|FZD6_uc003ylj.2_Missense_Mutation_p.R225T|FZD6_uc011lhn.1_Missense_Mutation_p.R191T|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R170T	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	225	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTGATGTTAGAAGATTCAGA	0.333		NaN											0	0	0	0.001168	0	6	47				
LRP12	29967	broad.mit.edu	37	8	105509412	105509412	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:105509412G>A	uc003yma.2	-	5	1463	c.1368C>T	c.(1366-1368)TTC>TTT	p.F456F	LRP12_uc003ymb.2_Silent_p.F437F|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	456	Extracellular (Potential).|LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTTACAATGGAAATTTCCTG	0.418		NaN											0	0	0	0.008871	0	15	102				
NUDCD1	84955	broad.mit.edu	37	8	110255327	110255327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:110255327G>A	uc003ynb.3	-	10	1774	c.1663C>T	c.(1663-1665)CCT>TCT	p.P555S	NUDCD1_uc003yna.2_Missense_Mutation_p.P526S|NUDCD1_uc010mcl.2_Missense_Mutation_p.P468S	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	555										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCTAAAATAGGATCATTGGTT	0.368		NaN											0	0	0	0.004289	0	32	212				
CSMD3	114788	broad.mit.edu	37	8	113267562	113267562	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:113267562A>G	uc003ynu.2	-	62	10116	c.9957T>C	c.(9955-9957)TTT>TTC	p.F3319F	CSMD3_uc003yns.2_Silent_p.F2521F|CSMD3_uc003ynt.2_Silent_p.F3279F|CSMD3_uc011lhx.1_Silent_p.F3150F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3319	Extracellular (Potential).|Sushi 26.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATATGAAAGGAAAATTGCAGC	0.413		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.006214	0	9	55				
NOV	4856	broad.mit.edu	37	8	120430374	120430374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:120430374C>A	uc003yoq.2	+	3	608	c.387C>A	c.(385-387)TTC>TTA	p.F129L		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	129	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGCAAATTCCAGTGCACCT	0.527		NaN											1	0	1.12685e-05	0.004482	1.19034e-05	9	56				
TG	7038	broad.mit.edu	37	8	133880419	133880419	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133880419C>T	uc003ytw.2	+	2	168	c.127C>T	c.(127-129)CTG>TTG	p.L43L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	43	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACGGCCTTTCTGAAGCAAGC	0.517		NaN											0	0	0	0.013537	0	9	83				
TG	7038	broad.mit.edu	37	8	133945805	133945805	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133945805G>A	uc003ytw.2	+	24	4858	c.4817_splice	c.e24-1	p.D1606_splice	TG_uc010mdw.2_Splice_Site_p.D365_splice|TG_uc011ljb.1_Splice_Site_p.D39_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGCTTGCAGATTGCACAGA	0.567		NaN											0	0	0	0.00245	0	10	105				
FAM135B	51059	broad.mit.edu	37	8	139158273	139158273	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139158273G>T	uc003yuy.2	-	15	3640	c.3469C>A	c.(3469-3471)CTG>ATG	p.L1157M	FAM135B_uc003yux.2_Missense_Mutation_p.L1058M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L719M|FAM135B_uc003yvb.2_Missense_Mutation_p.A684D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1157										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCTTTACCAGCCGGAGGTCT	0.433		NaN								HNSCC(54;0.14)			1	0	0.00010058	0.013537	0.000104953	12	51				
FAM135B	51059	broad.mit.edu	37	8	139160802	139160802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139160802C>T	uc003yuy.2	-	14	3580	c.3409G>A	c.(3409-3411)GAT>AAT	p.D1137N	FAM135B_uc003yux.2_Missense_Mutation_p.D1038N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D699N|FAM135B_uc003yvb.2_Missense_Mutation_p.R664K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1137										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAATTCCATCTTCCAAATTT	0.358		NaN								HNSCC(54;0.14)			0	0	0	0.00245	0	11	86				
FAM135B	51059	broad.mit.edu	37	8	139278012	139278012	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139278012C>G	uc003yuy.2	-	4	402	c.231G>C	c.(229-231)CGG>CGC	p.R77R	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	77										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTCTTCATTCCGGTATAAGA	0.493		NaN								HNSCC(54;0.14)			0	0	0	0.001984	0	6	74				
NAPRT1	93100	broad.mit.edu	37	8	144660103	144660103	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144660103G>C	uc003yym.3	-	2	262	c.237C>G	c.(235-237)TTC>TTG	p.F79L	NAPRT1_uc003yyn.3_Missense_Mutation_p.F79L|NAPRT1_uc011lkh.1_Missense_Mutation_p.F79L|NAPRT1_uc003yyo.3_Missense_Mutation_p.F79L	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	79					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGAGGCCAGGAACTGCACGT	0.672		NaN											0	0	0	0.000602	0	3	62				
PUF60	22827	broad.mit.edu	37	8	144899273	144899273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144899273G>A	uc003yzs.2	-	11	1251	c.1187C>T	c.(1186-1188)TCG>TTG	p.S396L	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	396	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTCCCACCGAGGGGATGGT	0.612		NaN											0	0	0	0.009096	0	3	17				
NRBP2	340371	broad.mit.edu	37	8	144921577	144921577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144921577G>C	uc011lkt.1	-	6	629	c.489C>G	c.(487-489)TTC>TTG	p.F163L	NRBP2_uc003yzv.2_5'UTR|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_5'UTR|NRBP2_uc011lks.1_5'UTR|NRBP2_uc003yzy.2_5'UTR	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	163	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCGTGCAGGAAGCTGCAGA	0.667		NaN											0	0	0	0.001168	0	5	10				
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940861G>A	uc003zaa.1	-	1	6574	c.6561C>T	c.(6559-6561)CTC>CTT	p.L2187L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2187						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGAGCTGAGGAGTTCAG	0.537		NaN											0	0	0	0.003271	0	26	210				
EPPK1	83481	broad.mit.edu	37	8	144940900	144940900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940900G>C	uc003zaa.1	-	1	6535	c.6522C>G	c.(6520-6522)TTC>TTG	p.F2174L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2174						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAATTCCTTGGAACCACAGGT	0.527		NaN											0	0	0	0.010504	0	19	166				
EPPK1	83481	broad.mit.edu	37	8	144941013	144941013	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941013G>C	uc003zaa.1	-	1	6422	c.6409C>G	c.(6409-6411)CTC>GTC	p.L2137V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2137						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAGCTGGAGCTTCTTCTCC	0.517		NaN											0	0	0	0.010504	0	19	136				
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941802G>A	uc003zaa.1	-	1	5633	c.5620C>T	c.(5620-5622)CGT>TGT	p.R1874C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1874						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607		NaN											0	0	0	0.004482	0	9	36				
SMARCA2	6595	broad.mit.edu	37	9	2054650	2054650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:2054650C>T	uc003zhc.2	+	6	1199	c.1100C>T	c.(1099-1101)TCT>TTT	p.S367F	SMARCA2_uc003zhd.2_Missense_Mutation_p.S367F|SMARCA2_uc010mha.2_Missense_Mutation_p.S358F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	367					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGCCTGGCTCTTTGCCACCA	0.443		NaN											0	0	0	0.008871	0	17	82		Valid		
KIAA2026	158358	broad.mit.edu	37	9	5968412	5968412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:5968412G>A	uc003zjq.3	-	3	2035	c.1819C>T	c.(1819-1821)CCA>TCA	p.P607S		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	607										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTTCACCTGGACTAAGAGGC	0.363		NaN											0	0	0	0.001984	0	5	74				
C9orf72	203228	broad.mit.edu	37	9	27566843	27566843	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:27566843C>T	uc003zqq.2	-	2	373	c.276G>A	c.(274-276)GTG>GTA	p.V92V	C9orf72_uc003zqr.1_Silent_p.V92V	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	92										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAACAATAATCACTCCCTTTT	0.378		NaN											0	0	0	0.009096	0	3	39				
NFX1	4799	broad.mit.edu	37	9	33313681	33313681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:33313681C>T	uc003zsq.2	+	7	1539	c.1478C>T	c.(1477-1479)TCA>TTA	p.S493L	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.S493L|NFX1_uc003zso.2_Missense_Mutation_p.S493L|NFX1_uc003zsp.1_Missense_Mutation_p.S493L|NFX1_uc010mjr.1_Missense_Mutation_p.S493L|NFX1_uc003zsr.2_Missense_Mutation_p.S493L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	493					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CAGGCTGTCTCAGTCCACTGT	0.483		NaN											0	0	0	0.012319	0	16	126				
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:34635839G>A	uc003zvb.2	-	4	536	c.462C>T	c.(460-462)CAC>CAT	p.H154H	SIGMAR1_uc003zva.3_Silent_p.H134H|SIGMAR1_uc003zuz.2_Silent_p.H65H|SIGMAR1_uc003zvc.2_Silent_p.H123H|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154	Cytoplasmic (Potential).				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding				0					Dextromethorphan(DB00514)	CACCAGGCCCGTGTACTACCG	0.647		NaN											0	0	0	0.00245	0	11	47				
GNE	10020	broad.mit.edu	37	9	36276902	36276902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:36276902G>A	uc010mli.2	-	1	140	c.40C>T	c.(40-42)CAA>TAA	p.Q14*	CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.F46F	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	Error:Variant_position_missing_in_Q9Y223_after_alignment					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			TGAGGTCCTTGAAAGCATGAC	0.403		NaN											0	0	0	0.014323	0	17	69				
TBC1D2	55357	broad.mit.edu	37	9	100971023	100971023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:100971023C>T	uc011lvb.1	-	9	2257	c.2077G>A	c.(2077-2079)GAC>AAC	p.D693N	TBC1D2_uc004ayp.2_Missense_Mutation_p.D233N|TBC1D2_uc004ayq.2_Missense_Mutation_p.D693N|TBC1D2_uc004ayr.2_Missense_Mutation_p.D475N|TBC1D2_uc004ayo.3_Missense_Mutation_p.D693N	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	693	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGAGCTTGTCGGGGAAGCTG	0.642		NaN											0	0	0	0.009096	0	4	55				
PTPN3	5774	broad.mit.edu	37	9	112166859	112166859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:112166859C>T	uc004bed.2	-	19	1934	c.1822G>A	c.(1822-1824)GAA>AAA	p.E608K	PTPN3_uc004beb.2_Missense_Mutation_p.E477K|PTPN3_uc004bec.2_Missense_Mutation_p.E432K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E563K|PTPN3_uc011lwh.1_Missense_Mutation_p.E454K|PTPN3_uc011lwd.1_Missense_Mutation_p.E76K|PTPN3_uc011lwe.1_Missense_Mutation_p.E321K|PTPN3_uc011lwf.1_Missense_Mutation_p.E276K	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	608					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						agttcatcttcagacttgaag	0.373		NaN											0	0	0	0.004656	0	20	90				
COL27A1	85301	broad.mit.edu	37	9	116973287	116973287	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:116973287G>T	uc011lxl.1	+	12	2348	c.2348G>T	c.(2347-2349)AGG>ATG	p.R783M	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.R582M	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	783	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCTGGCAAGAGGGGCAAGATG	0.642		NaN											1	0	2.52707e-12	0.006214	2.77192e-12	6	94				
DFNB31	25861	broad.mit.edu	37	9	117188538	117188538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:117188538C>G	uc004biz.3	-	4	1768	c.1119G>C	c.(1117-1119)AAG>AAC	p.K373N	DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.K373N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	373					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TGGCGATCCACTTGGTCTCGT	0.617		NaN											0	0	0	0.001984	0	6	54				
STRBP	55342	broad.mit.edu	37	9	125909232	125909232	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:125909232G>T	uc004bns.2	-	13	1670	c.1240C>A	c.(1240-1242)CAT>AAT	p.H414N	STRBP_uc004bnt.2_Missense_Mutation_p.H232N|STRBP_uc004bnu.2_Missense_Mutation_p.H400N|STRBP_uc004bnv.2_Missense_Mutation_p.H414N|STRBP_uc004bnr.2_Missense_Mutation_p.H26N	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	414	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						ACTGGGGCATGAACGGGGCCA	0.463		NaN											1	0	3.27435e-08	0.00245	3.53984e-08	13	114				
DOLK	22845	broad.mit.edu	37	9	131709575	131709575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:131709575C>T	uc004bwr.2	-	1	438	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	3	Lumenal (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						TGGGCACTCTCGGGTCATATC	0.662		NaN											0	0	0	0.001855	0	10	53				
RPS6KA3	6197	broad.mit.edu	37	X	20194392	20194392	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:20194392C>G	uc004czu.2	-	13	1078	c.1078G>C	c.(1078-1080)GAG>CAG	p.E360Q	RPS6KA3_uc011mjk.1_Missense_Mutation_p.E331Q|RPS6KA3_uc004czv.2_Missense_Mutation_p.E348Q|RPS6KA3_uc011mjl.1_Missense_Mutation_p.E332Q|RPS6KA3_uc011mjm.1_Missense_Mutation_p.E332Q	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	360	AGC-kinase C-terminal.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						GCAGTAAACTCAGGATCAAAA	0.348		NaN											0	0	0	0.000602	0	4	21				
TAB3	257397	broad.mit.edu	37	X	30872614	30872614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:30872614G>A	uc004dcj.2	-	6	1831	c.1168C>T	c.(1168-1170)CAA>TAA	p.Q390*	TAB3_uc004dck.2_Nonsense_Mutation_p.Q390*|TAB3_uc010ngl.2_Nonsense_Mutation_p.Q390*	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	390	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GGAGATGGTTGATTACTGATG	0.423		NaN											0	0	0	0.001168	0	4	73				
BMP15	9210	broad.mit.edu	37	X	50659572	50659572	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:50659572G>A	uc011mnw.1	+	2	1144	c.1144G>A	c.(1144-1146)GAG>AAG	p.E382K		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	382					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					CAAGGAGTATGAGGGTATGAT	0.453		NaN											0	0	0	0.00308	0	7	63				
XAGE5	170627	broad.mit.edu	37	X	52844216	52844216	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:52844216A>C	uc004drd.1	+	4	344	c.279A>C	c.(277-279)TCA>TCC	p.S93S		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	93										ovary(1)	1						TGCCAAAATCAGAGCAATTTA	0.388		NaN											0	0	0	0.004482	0	7	22				
HUWE1	10075	broad.mit.edu	37	X	53578272	53578272	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:53578272C>G	uc004dsp.2	-	64	9453	c.9051G>C	c.(9049-9051)GTG>GTC	p.V3017V	HUWE1_uc004dsn.2_Intron	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3017					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ACTCAGGGCTCACTTCAGTCA	0.597		NaN											0	0	0	0.000602	0	4	9				
RLIM	51132	broad.mit.edu	37	X	73814150	73814150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:73814150C>T	uc004ebu.2	-	4	534	c.244G>A	c.(244-246)GAA>AAA	p.E82K	RLIM_uc004ebw.2_Missense_Mutation_p.E82K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	82					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CCTCTATTTTCATCTGAGTTT	0.418		NaN											0	0	0	0.000602	0	5	29				
ABCB7	22	broad.mit.edu	37	X	74291394	74291394	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:74291394C>A	uc004eca.2	-	9	1182	c.1157G>T	c.(1156-1158)AGT>ATT	p.S386I	ABCB7_uc004ebz.2_Missense_Mutation_p.S387I|ABCB7_uc011mqn.1_Missense_Mutation_p.S360I|ABCB7_uc010nls.2_Missense_Mutation_p.S347I|ABCB7_uc010nlt.2_Missense_Mutation_p.S346I	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	386	ABC transmembrane type-1.|Helical; (Potential).				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						TAAACCGACACTGAAAATAGC	0.408		NaN											1	0	0.00909568	0.009096	0.00928131	4	63				
GPRASP1	9737	broad.mit.edu	37	X	101912847	101912847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:101912847C>T	uc004ejj.3	+	5	4807	c.4006C>T	c.(4006-4008)CAA>TAA	p.Q1336*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1336*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1336*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1336	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						TGACAATATTCAAATTGTTCT	0.328		NaN											0	0	0	0.004482	0	7	32				
BEX4	56271	broad.mit.edu	37	X	102471435	102471435	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:102471435C>T	uc004ejv.3	+	3	589	c.354C>T	c.(352-354)CTC>CTT	p.L118L	BEX4_uc004ejw.3_Silent_p.L118L	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN	BEX family member 4	118						cytoplasm|nucleus				skin(1)	1						ACTTTTGCCTCATACCTTGAA	0.398		NaN											0	0	0	0.003163	0	13	58				
ESX1	80712	broad.mit.edu	37	X	103499470	103499470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:103499470C>T	uc004ely.2	-	1	119	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	21					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCGATGTCCTCGCCGACTGCC	0.552		NaN											0	0	0	0.008291	0	7	157				
SERPINA7	6906	broad.mit.edu	37	X	105281023	105281023	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:105281023G>C	uc004eme.1	-	1	43	c.27C>G	c.(25-27)CTC>CTG	p.L9L	SERPINA7_uc010npd.2_Silent_p.L9L|SERPINA7_uc010npe.1_Silent_p.L9L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	9					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	CAAGTACCAAGAGAACCAGAT	0.448		NaN											0	0	0	0.001855	0	12	38				
SLITRK4	139065	broad.mit.edu	37	X	142718202	142718202	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:142718202G>T	uc004fbx.2	-	2	1099	c.723C>A	c.(721-723)ATC>ATA	p.I241I	SLITRK4_uc004fby.2_Silent_p.I241I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	241	Extracellular (Potential).|LRRCT 1.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTCACAGATAGCTTCTC	0.433		NaN											1	0	1.12685e-05	0.004482	1.19034e-05	7	18				
TAS1R3	83756	broad.mit.edu	37	1	1268918	1268918	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:1268918G>T	uc010nyk.1	+	6	1633	c.1633G>T	c.(1633-1635)GAG>TAG	p.E545*		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	545	Extracellular (Potential).|Required for brazzein responsiveness.				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGGCCAGGATGAGTGGTCCCC	0.637		NaN											1	0	1.88708e-17	0.008361	2.09522e-17	22	60				
CD164L2	388611	broad.mit.edu	37	1	27706644	27706644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:27706644C>T	uc001boc.2	-	5	491	c.415G>A	c.(415-417)GGG>AGG	p.G139R		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	139	Extracellular (Potential).					integral to membrane					0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTGGCCCCGTCAAATCCA	0.617		NaN											0	0	0	0.00308	0	5	93				
FOXD2	2306	broad.mit.edu	37	1	47904409	47904409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:47904409G>A	uc001crm.2	+	1	2721	c.602G>A	c.(601-603)TGG>TAG	p.W201*		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	201	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		GGCAACTACTGGACGCTGGAC	0.672		NaN											0	0	0	0.01441	0	53	131				
CRNN	49860	broad.mit.edu	37	1	152382699	152382700	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:152382699_152382700CA>TG	uc001ezx.2	-	3	932_933	c.858_859TG>CA	c.(856-861)CATGCT>CACACT	p.A287T		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	287	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGCATGTCCTCCTG	0.614		NaN											0	0	0	0.004672	0	7	508				
PYGO2	90780	broad.mit.edu	37	1	154933468	154933468	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:154933468C>A	uc001fft.2	-	2	344	c.138G>T	c.(136-138)AGG>AGT	p.R46S		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	46	Nuclear localization signal (Potential).|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TATTTGACTTCCTTCGCTTCT	0.502		NaN											1	0	6.40141e-05	0.010729	6.80713e-05	8	436				
PIGC	5279	broad.mit.edu	37	1	172410941	172410941	+	Silent	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:172410941A>G	uc001gil.2	-	2	1103	c.822T>C	c.(820-822)CTT>CTC	p.L274L	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Silent_p.L274L|PIGC_uc001gio.2_Silent_p.L274L	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	274					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						TTTCTTTAAAAAGCTGCAAGC	0.438		NaN											0	0	0	0.006122	0	17	57				
ASPM	259266	broad.mit.edu	37	1	197059202	197059202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:197059202C>T	uc001gtu.2	-	25	10099	c.9842G>A	c.(9841-9843)AGA>AAA	p.R3281K	ASPM_uc001gtv.2_Missense_Mutation_p.R1696K|ASPM_uc001gtw.3_Missense_Mutation_p.R1129K	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3281					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGGAGACAATCTAGTAACTAC	0.333		NaN											0	0	0	0.006122	0	14	37				
PPFIA4	8497	broad.mit.edu	37	1	203025554	203025554	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:203025554G>A	uc001gyz.2	+	5	1233	c.640G>A	c.(640-642)GAG>AAG	p.E214K	PPFIA4_uc009xaj.2_Missense_Mutation_p.E845K|PPFIA4_uc010pqf.1_Missense_Mutation_p.E427K|PPFIA4_uc001gza.2_Missense_Mutation_p.E214K|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	214					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CATAAAATGTGAGACTTCTCC	0.577		NaN											0	0	0	0.010729	0	9	51				
NFASC	23114	broad.mit.edu	37	1	204951129	204951129	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr1:204951129C>T	uc001hbj.2	+	21	2779	c.2451C>T	c.(2449-2451)ATC>ATT	p.I817I	NFASC_uc010pra.1_Silent_p.I813I|NFASC_uc001hbi.2_Silent_p.I813I|NFASC_uc010prb.1_Silent_p.I828I|NFASC_uc010prc.1_Silent_p.I384I|NFASC_uc001hbk.1_Silent_p.I623I|NFASC_uc001hbl.1_Silent_p.I67I	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	817	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTCCGTCATCGGTTACTCCG	0.607		NaN											0	0	0	0.016723	0	9	19				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:37431050G>C	uc001iza.1	+	7	1156	c.1057G>C	c.(1057-1059)GCA>CCA	p.A353P		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGGCAGCAAAAGG	0.408		NaN											0	0	0	0.009096	0	4	61				
ZNF248	57209	broad.mit.edu	37	10	38121105	38121105	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:38121105G>C	uc001izd.1	-	6	1677	c.1178C>G	c.(1177-1179)TCA>TGA	p.S393*	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Nonsense_Mutation_p.S393*	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	393	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGAGGTTTGACTTCTCCCA	0.453		NaN											0	0	0	0.016522	0	23	70				
EGR2	1959	broad.mit.edu	37	10	64575663	64575663	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:64575663C>G	uc010qim.1	-	2	281	c.127G>C	c.(127-129)GAA>CAA	p.E43Q	EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Missense_Mutation_p.E43Q|EGR2_uc010qio.1_Missense_Mutation_p.E56Q|EGR2_uc009xph.2_Missense_Mutation_p.E43Q	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	43					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTCCCAGTTCGGCATTGGGA	0.622		NaN											0	0	0	0.009096	0	4	140				
PANK1	53354	broad.mit.edu	37	10	91353589	91353589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:91353589C>T	uc001kgp.1	-	4	1624	c.1468G>A	c.(1468-1470)GGA>AGA	p.G490R	PANK1_uc001kgn.1_Missense_Mutation_p.G265R|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G292R|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	490					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	ACAGCAGATCCTTGAAGGCCA	0.448		NaN											0	0	0	0.008291	0	7	155				
C10orf79	80217	broad.mit.edu	37	10	105948076	105948076	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:105948076C>T	uc001kxw.2	-	13	1755	c.1639G>A	c.(1639-1641)GGG>AGG	p.G547R	C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.G548R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	547											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CTGCTTCTCCCTGCTTCTGGA	0.463		NaN											0	0	0	0.004672	0	3	46				
ACADSB	36	broad.mit.edu	37	10	124793889	124793889	+	Silent	SNP	G	G	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr10:124793889G>T	uc001lhb.2	+	2	177	c.60G>T	c.(58-60)CTG>CTT	p.L20L	ACADSB_uc010qub.1_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	20					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GAAATTTCCTGACTTGTTTGT	0.353		NaN											1	0	1.37522e-17	0.007413	1.53821e-17	15	22				
KLC2	64837	broad.mit.edu	37	11	66033397	66033397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr11:66033397C>T	uc010rov.1	+	13	1759	c.1516C>T	c.(1516-1518)CGC>TGC	p.R506C	KLC2_uc010row.1_Missense_Mutation_p.R506C|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R506C|KLC2_uc010rox.1_Missense_Mutation_p.R429C|KLC2_uc001ohc.2_Missense_Mutation_p.R506C|KLC2_uc001ohd.2_Missense_Mutation_p.R429C|KLC2_uc001ohe.1_Missense_Mutation_p.R367C|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	506					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						GGGAGACCGCCGCAGCAGCCG	0.667		NaN											0	0	0	0.001168	0	4	67				
ODZ4	26011	broad.mit.edu	37	11	78419499	78419499	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr11:78419499G>C	uc001ozl.3	-	27	4579	c.4116C>G	c.(4114-4116)ATC>ATG	p.I1372M		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1372	Extracellular (Potential).|NHL 3.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CATTCTGATCGATGCGTCTGA	0.507		NaN											0	0	0	0.00623	0	37	20				
SYTL2	54843	broad.mit.edu	37	11	85420380	85420380	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr11:85420380G>C	uc010rth.1	-	12	2270	c.1994C>G	c.(1993-1995)TCA>TGA	p.S665*	SYTL2_uc010rtg.1_Nonsense_Mutation_p.S666*|SYTL2_uc010rti.1_Nonsense_Mutation_p.S641*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.S633*|SYTL2_uc001pav.2_Nonsense_Mutation_p.S107*|SYTL2_uc010rte.1_Nonsense_Mutation_p.S67*|SYTL2_uc001pax.2_Nonsense_Mutation_p.S107*|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Nonsense_Mutation_p.S50*|SYTL2_uc001pay.2_Nonsense_Mutation_p.S96*|SYTL2_uc001paw.2_Nonsense_Mutation_p.S67*|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Nonsense_Mutation_p.S963*|SYTL2_uc001pbb.2_Nonsense_Mutation_p.S1003*|SYTL2_uc001pbc.2_Nonsense_Mutation_p.S987*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.S483*	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	665	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTACGGGTCTGAACGCTGTTT	0.413		NaN											0	0	0	0.01441	0	40	49				
PRB2	653247	broad.mit.edu	37	12	11546868	11546868	+	Silent	SNP	T	T	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:11546868T>C	uc010shk.1	-	3	179	c.144A>G	c.(142-144)CAA>CAG	p.Q48Q		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ATGGGGGACCTTGAGGTTTGT	0.547		NaN											0	0	0	0.00308	0	5	217				
KRT73	319101	broad.mit.edu	37	12	53007514	53007514	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:53007514G>A	uc001sas.2	-	5	977	c.942C>T	c.(940-942)GCC>GCT	p.A314A		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	314	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCTTCCGGGCGATCTCCT	0.587		NaN											0	0	0	0.012319	0	19	71				
HOXC4	3221	broad.mit.edu	37	12	54448079	54448079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:54448079C>T	uc001seu.2	+	3	1053	c.373C>T	c.(373-375)CCC>TCC	p.P125S	HOXC4_uc001sex.2_Missense_Mutation_p.P125S	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCCCGACCATCCCTCCAGCGC	0.582		NaN											0	0	0	0.00308	0	6	27				
TMEM5	10329	broad.mit.edu	37	12	64196067	64196067	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:64196067G>C	uc001srq.1	+	4	729	c.625G>C	c.(625-627)GAG>CAG	p.E209Q	TMEM5_uc001srr.1_Missense_Mutation_p.E106Q|TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	209	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTGTGATAATGAGTGGATAAA	0.393		NaN											0	0	0	0.006214	0	8	36				
XPOT	11260	broad.mit.edu	37	12	64812728	64812728	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:64812728A>G	uc001ssb.2	+	6	769	c.343A>G	c.(343-345)ACA>GCA	p.T115A	XPOT_uc009zqm.1_Missense_Mutation_p.T25A	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	115	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		GCTTTTTGTTACAGAGTATCT	0.433		NaN											0	0	0	0.001168	0	5	42				
XPOT	11260	broad.mit.edu	37	12	64812733	64812733	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:64812733G>A	uc001ssb.2	+	6	774	c.348G>A	c.(346-348)GAG>GAA	p.E116E	XPOT_uc009zqm.1_Silent_p.E26E	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	116	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TTGTTACAGAGTATCTCACTA	0.438		NaN											0	0	0	0.001168	0	5	42				
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:64812808C>G	uc001ssb.2	+	6	849	c.423C>G	c.(421-423)CTC>CTG	p.L141L	XPOT_uc009zqm.1_Silent_p.L51L	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398		NaN											0	0	0	0.006214	0	9	98				
OSBPL8	114882	broad.mit.edu	37	12	76763454	76763454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:76763454C>G	uc001sye.1	-	20	2683	c.2203G>C	c.(2203-2205)GAT>CAT	p.D735H	OSBPL8_uc001syf.1_Missense_Mutation_p.D693H|OSBPL8_uc001syg.1_Missense_Mutation_p.D693H|OSBPL8_uc001syh.1_Missense_Mutation_p.D710H	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	735					lipid transport		lipid binding			ovary(1)	1						GTGAGTGGATCAAGTTCAAAT	0.358		NaN											0	0	0	0.012319	0	17	56				
SDSL	113675	broad.mit.edu	37	12	113873341	113873341	+	Silent	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:113873341C>G	uc001tvi.2	+	7	861	c.651C>G	c.(649-651)GTC>GTG	p.V217V	SDSL_uc009zwh.2_Silent_p.V217V	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	serine dehydratase-like	217					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	GCAAGCTGGTCACACTTCCAG	0.622		NaN											0	0	0	0.009718	0	35	180				
DNAH10	196385	broad.mit.edu	37	12	124345688	124345688	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr12:124345688C>G	uc001uft.3	+	38	6550	c.6525C>G	c.(6523-6525)ATC>ATG	p.I2175M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2175	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGAAATCAACAAGCCAA	0.463		NaN											0	0	0	0.004482	0	7	30				
TUBA3C	7278	broad.mit.edu	37	13	19751303	19751303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr13:19751303G>A	uc009zzj.2	-	4	869	c.820C>T	c.(820-822)CCG>TCG	p.P274S		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	274					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGATGACCGGGGCGTAGGTG	0.607		NaN											0	0	0	0.01441	0	49	173				
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr13:48947629G>A	uc001vcb.2	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(14)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.264		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.00499	0	17	29		Valid		
POTEG	404785	broad.mit.edu	37	14	19553680	19553680	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr14:19553680C>T	uc001vuz.1	+	1	316	c.264C>T	c.(262-264)GAC>GAT	p.D88D	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	88										ovary(1)	1						ACCACGACGACTCTGCTATGA	0.617		NaN											0	0	0	0.001984	0	6	393				
MDGA2	161357	broad.mit.edu	37	14	47530528	47530528	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr14:47530528C>T	uc001wwj.3	-	7	1438	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	MDGA2_uc001wwi.3_Silent_p.T185T|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	414	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CACATGTGTACGTCCCAAAAT	0.408		NaN											0	0	0	0.01441	0	36	120				
OTX2	5015	broad.mit.edu	37	14	57268797	57268797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr14:57268797G>A	uc001xcp.2	-	3	697	c.526C>T	c.(526-528)CCC>TCC	p.P176S	OTX2_uc010aou.2_Missense_Mutation_p.P176S|OTX2_uc001xcq.2_Missense_Mutation_p.P184S	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	176					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TAGGTCATGGGATAGGACCTC	0.522		NaN											0	0	0	0.006122	0	13	42				
CHAC1	79094	broad.mit.edu	37	15	41245807	41245807	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr15:41245807A>T	uc001znh.2	+	1	172	c.152A>T	c.(151-153)AAC>ATC	p.N51I	CHAC1_uc010uct.1_Missense_Mutation_p.N51I	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	51					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCAGCCCCGAACACCCCGCCC	0.687		NaN											0	0	0	0.010504	0	13	60				
KIF23	9493	broad.mit.edu	37	15	69709843	69709843	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr15:69709843A>G	uc002asb.2	+	3	320	c.203A>G	c.(202-204)TAT>TGT	p.Y68C	KIF23_uc002asc.2_Missense_Mutation_p.Y68C|KIF23_uc010bii.2_Missense_Mutation_p.I4V|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	68	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						AATGGAGACTATAAGGAGGTA	0.378		NaN											0	0	0	0.007835	0	33	75				
CSK	1445	broad.mit.edu	37	15	75094356	75094356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr15:75094356G>A	uc010bkb.1	+	13	1285	c.1102G>A	c.(1102-1104)GAC>AAC	p.D368N	CSK_uc002ays.2_Missense_Mutation_p.D368N|CSK_uc010bkc.1_Missense_Mutation_p.D177N	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	368	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CACTAAGTCTGACGTGTGGAG	0.532		NaN											0	0	0	0.015359	0	26	52				
CSK	1445	broad.mit.edu	37	15	75094364	75094364	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr15:75094364G>T	uc010bkb.1	+	13	1293	c.1110G>T	c.(1108-1110)TGG>TGT	p.W370C	CSK_uc002ays.2_Missense_Mutation_p.W370C|CSK_uc010bkc.1_Missense_Mutation_p.W179C	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	370	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CTGACGTGTGGAGTTTCGGAA	0.537		NaN											1	0	2.87052e-16	0.005524	3.16386e-16	27	52				
MSLNL	401827	broad.mit.edu	37	16	830490	830490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr16:830490G>A	uc002cjz.1	-	3	511	c.511C>T	c.(511-513)CGC>TGC	p.R171C		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGATGCGTGCGGGCACGCATG	0.547		NaN											0	0	0	0.001168	0	5	190				
PDILT	204474	broad.mit.edu	37	16	20370721	20370721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr16:20370721C>T	uc002dhc.1	-	12	1898	c.1675G>A	c.(1675-1677)GAG>AAG	p.E559K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	559					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						ACCACCTCCTCAGATGTTTTC	0.493		NaN											0	0	0	0.01441	0	50	282				
SMTNL2	342527	broad.mit.edu	37	17	4496232	4496232	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:4496232G>A	uc002fyf.1	+	3	563	c.496G>A	c.(496-498)GAT>AAT	p.D166N	SMTNL2_uc002fye.2_Missense_Mutation_p.D22N	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	166											0				READ - Rectum adenocarcinoma(115;0.0325)		AGGTCCAGGCGATGGACCCCC	0.662		NaN											0	0	0	0.006999	0	31	19				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.007413	0	18	23		Valid		
EFCAB5	374786	broad.mit.edu	37	17	28380460	28380460	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:28380460G>A	uc002het.2	+	10	1680	c.1488G>A	c.(1486-1488)CAG>CAA	p.Q496Q	EFCAB5_uc010wbi.1_Silent_p.Q239Q|EFCAB5_uc010wbj.1_Silent_p.Q440Q|EFCAB5_uc010wbk.1_Silent_p.Q153Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.Q375Q|EFCAB5_uc010csf.2_Silent_p.Q375Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	496							calcium ion binding			ovary(1)|skin(1)	2						TTAACGAACAGAGAACATCAA	0.393		NaN											0	0	0	0.020292	0	12	41				
ZNF652	22834	broad.mit.edu	37	17	47395037	47395037	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:47395037C>T	uc002iov.3	-	2	515	c.51G>A	c.(49-51)GTG>GTA	p.V17V	ZNF652_uc002iow.2_Silent_p.V17V|ZNF652_uc002iou.3_RNA	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGCTACATGCACAGCACAGT	0.448		NaN											0	0	0	0.00308	0	5	38				
MED13	9969	broad.mit.edu	37	17	60028189	60028189	+	Silent	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:60028189A>G	uc002izo.2	-	28	6365	c.6288T>C	c.(6286-6288)CTT>CTC	p.L2096L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2096					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GCAATACCTTAAGAAAAAGGG	0.413		NaN											0	0	0	0.01441	0	39	81				
ITGB4	3691	broad.mit.edu	37	17	73723498	73723498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr17:73723498G>A	uc002jpg.2	+	4	363	c.176G>A	c.(175-177)CGG>CAG	p.R59Q	ITGB4_uc002jph.2_Missense_Mutation_p.R59Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R59Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R59Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R59Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R59Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	59	PSI.|Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCAGGGACCGGCGCTGCAAC	0.637		NaN											0	0	0	0.016723	0	10	41				
FAM59A	64762	broad.mit.edu	37	18	29848220	29848220	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr18:29848220C>T	uc002kxl.2	-	6	2301	c.2245G>A	c.(2245-2247)GAT>AAT	p.D749N	FAM59A_uc002kxk.1_Missense_Mutation_p.D748N	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	749										ovary(1)|skin(1)	2						TCAGCACCATCAATTTTCAGA	0.522		NaN											0	0	0	0.004656	0	23	56				
FEM1A	55527	broad.mit.edu	37	19	4792857	4792857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:4792857C>T	uc002mbf.2	+	1	1130	c.991C>T	c.(991-993)CAG>TAG	p.Q331*	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	331	TPR 1.				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCTGCGTCACCAGGGGGGCGA	0.602		NaN											0	0	0	0.005443	0	22	40				
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:9048764A>G	uc002mkp.2	-	5	33071	c.32867T>C	c.(32866-32868)CTT>CCT	p.L10956P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10958	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGTTCACCAAGAGAAAAAGT	0.498		NaN											0	0	0	0.00308	0	4	86				
MUC16	94025	broad.mit.edu	37	19	9048771	9048771	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:9048771A>G	uc002mkp.2	-	5	33064	c.32860T>C	c.(32860-32862)TTT>CTT	p.F10954L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10956	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCAAGAGAAAAAGTCAGAATT	0.483		NaN											0	0	0	0.00308	0	4	90				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:12155757C>A	uc002mta.1	-	5	600	c.600G>T	c.(598-600)AGG>AGT	p.R200S		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACTGGGAAACCTGAATGCTT	0.423		NaN											1	0	5.18039e-06	0.00308	5.5478e-06	7	94				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:12501446T>C	uc010dyt.2	-	4	1916	c.1766A>G	c.(1765-1767)GAA>GGA	p.E589G	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCCTTACATTCATACGGGTT	0.413		NaN											0	0	0	0.004672	0	3	36				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:12637723C>T	uc002mty.2	-	4	1409	c.1199G>A	c.(1198-1200)AGA>AAA	p.R400K	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCAAAGGCTCTACCACATAC	0.433		NaN											0	0	0	0.001168	0	5	118				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:21606712T>C	uc002npx.2	+	2	1147	c.867T>C	c.(865-867)TCT>TCC	p.S289S	ZNF493_uc002npw.2_Silent_p.S417S|ZNF493_uc002npy.2_Silent_p.S289S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	289	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAAGGAGTCTTCACACCTTA	0.348		NaN											0	0	0	0.014758	0	4	35				
ZNF208	7757	broad.mit.edu	37	19	22156621	22156621	+	Silent	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:22156621A>G	uc002nqp.2	-	4	1364	c.1215T>C	c.(1213-1215)GGT>GGC	p.G405G	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATACTAAAACCTTTGCCAC	0.393		NaN											0	0	0	0.004672	0	3	62				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:23544783C>T	uc002nre.2	-	4	1111	c.998G>A	c.(997-999)CGT>CAT	p.R333H	ZNF91_uc010xrj.1_Missense_Mutation_p.R301H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	333	C2H2-type 7.			R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393		NaN											0	0	0	0.001984	0	6	94				
ZNF681	148213	broad.mit.edu	37	19	23927146	23927146	+	Silent	SNP	A	A	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:23927146A>G	uc002nrk.3	-	4	1348	c.1206T>C	c.(1204-1206)GCT>GCC	p.A402A	ZNF681_uc002nrl.3_Silent_p.A333A|ZNF681_uc002nrj.3_Silent_p.A333A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	402	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398		NaN											0	0	0	0.001984	0	3	66				
ZNF599	148103	broad.mit.edu	37	19	35251038	35251038	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:35251038C>G	uc010edn.1	-	4	1056	c.668G>C	c.(667-669)GGA>GCA	p.G223A	ZNF599_uc010edm.1_Missense_Mutation_p.G186A	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGGCTTCACTCCAGCATGAAT	0.473		NaN											0	0	0	0.004482	0	6	204				
SIPA1L3	23094	broad.mit.edu	37	19	38579389	38579389	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:38579389G>A	uc002ohk.2	+	4	2072	c.1563G>A	c.(1561-1563)GAG>GAA	p.E521E		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	521					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGTGGATGAGAAGCTGGGGC	0.587		NaN											0	0	0	0.020292	0	15	33				
LIPE	3991	broad.mit.edu	37	19	42931254	42931254	+	Silent	SNP	T	T	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:42931254T>C	uc002otr.2	-	1	325	c.48A>G	c.(46-48)GAA>GAG	p.E16E	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	16					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TCTGGTGTGGTTCAGGTTGCC	0.517		NaN											0	0	0	0.006214	0	7	28				
ZNF229	7772	broad.mit.edu	37	19	44933766	44933766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:44933766C>T	uc002oze.1	-	6	1624	c.1190G>A	c.(1189-1191)AGG>AAG	p.R397K	ZNF229_uc010ejk.1_Missense_Mutation_p.R51K|ZNF229_uc010ejl.1_Missense_Mutation_p.R391K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	397	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				AGTGTGGACCCTCTGATGGAC	0.502		NaN											0	0	0	0.013726	0	32	51				
ZNF577	84765	broad.mit.edu	37	19	52376698	52376698	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:52376698C>A	uc010yde.1	-	7	936	c.545G>T	c.(544-546)GGA>GTA	p.G182V	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.G123V|ZNF577_uc002pxv.2_Missense_Mutation_p.G175V|ZNF577_uc002pxw.2_Missense_Mutation_p.G116V	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GGGTTTCTCTCCTCTTTCAGT	0.468		NaN											1	0	0.000602214	0.014758	0.000627134	4	88				
ZNF611	81856	broad.mit.edu	37	19	53209409	53209409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:53209409G>T	uc002pzz.2	-	7	1216	c.899C>A	c.(898-900)TCA>TAA	p.S300*	ZNF611_uc010eqc.2_Nonsense_Mutation_p.S230*|ZNF611_uc010ydo.1_Nonsense_Mutation_p.S230*|ZNF611_uc010ydr.1_Nonsense_Mutation_p.S231*|ZNF611_uc010ydp.1_Nonsense_Mutation_p.S300*|ZNF611_uc010ydq.1_Nonsense_Mutation_p.S300*|ZNF611_uc002qaa.3_Nonsense_Mutation_p.S230*	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	300	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTAAGGGATGACTCCTGACT	0.413		NaN											1	0	7.38237e-10	0.00632	7.96241e-10	27	192				
ZNF347	84671	broad.mit.edu	37	19	53644362	53644362	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:53644362C>T	uc002qbb.1	-	5	1788	c.1719G>A	c.(1717-1719)GAG>GAA	p.E573E	ZNF347_uc010eql.1_Silent_p.E574E|ZNF347_uc002qbc.1_Silent_p.E574E	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	573	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		CCTTGCCACACTCATTACATT	0.408		NaN											0	0	0	0.00308	0	5	247				
ZNF628	89887	broad.mit.edu	37	19	55993619	55993619	+	Silent	SNP	G	G	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr19:55993619G>T	uc002qld.2	+	3	1612	c.1047G>T	c.(1045-1047)GCG>GCT	p.A349A	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	349	Pro-rich.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGCCCCCGCGCCTGGCTTTG	0.771		NaN											1	0	2.61681e-11	0.020292	2.84273e-11	10	6				
LRRTM1	347730	broad.mit.edu	37	2	80530714	80530714	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:80530714G>A	uc002sok.1	-	2	501	c.231C>T	c.(229-231)CTC>CTT	p.L77L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	77	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCAGCTCCGAGAGGCTGTTGT	0.647		NaN								HNSCC(69;0.2)			0	0	0	0.009096	0	4	63				
NEB	4703	broad.mit.edu	37	2	152484126	152484126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:152484126C>T	uc010fnx.2	-	65	9516	c.9325G>A	c.(9325-9327)GAC>AAC	p.D3109N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3109	Nebulin 84.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGTAGTCCACATCGCTG	0.522		NaN											0	0	0	0.004482	0	8	250				
TTN	7273	broad.mit.edu	37	2	179613777	179613777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:179613777G>C	uc002unb.2	-	46	13574	c.13350C>G	c.(13348-13350)CAC>CAG	p.H4450Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCCGGGTAGTGTATCTCTT	0.333		NaN											0	0	0	0.014758	0	4	35				
NBEAL1	65065	broad.mit.edu	37	2	204058632	204058632	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:204058632G>C	uc002uzt.3	+	46	7282	c.6949G>C	c.(6949-6951)GAG>CAG	p.E2317Q	NBEAL1_uc002uzs.3_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2317							binding			ovary(1)|skin(1)	2						ATTTTTTATAGAGGTAATATC	0.308		NaN											0	0	0	0.014758	0	3	36				
SMARCAL1	50485	broad.mit.edu	37	2	217342939	217342939	+	Missense_Mutation	SNP	G	G	C	rs119473033		TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:217342939G>C	uc002vgc.3	+	17	2872	c.2542G>C	c.(2542-2544)GAG>CAG	p.E848Q	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.E848Q|SMARCAL1_uc010fvg.2_Missense_Mutation_p.E826Q	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	848	Helicase C-terminal.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCTGATTCAAGAGAAGATTAA	0.458		NaN							Schimke_Immuno-Osseous_Dysplasia				0	0	0	0.007835	0	33	51				
DOCK10	55619	broad.mit.edu	37	2	225651829	225651829	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:225651829G>A	uc010fwz.1	-	50	5804	c.5565C>T	c.(5563-5565)GAC>GAT	p.D1855D	DOCK10_uc002vob.2_Silent_p.D1849D|DOCK10_uc002voa.2_Silent_p.D511D|DOCK10_uc002voc.2_Silent_p.D676D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1855	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACCGATGAATGTCGTAGTAGA	0.403		NaN											0	0	0	0.001168	0	5	69				
SLC16A14	151473	broad.mit.edu	37	2	230911105	230911105	+	Missense_Mutation	SNP	G	G	C	rs111627569		TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr2:230911105G>C	uc002vqd.1	-	4	1100	c.737C>G	c.(736-738)ACA>AGA	p.T246R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.T246R|SLC16A14_uc002vqf.2_Missense_Mutation_p.T246R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	246	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTTCTCTTCTGTTCTTCCCTG	0.582		NaN											0	0	0	0.001984	0	5	106				
SRC	6714	broad.mit.edu	37	20	36012632	36012632	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr20:36012632G>A	uc002xgx.2	+	4	525	c.76G>A	c.(76-78)GGC>AGC	p.G26S	SRC_uc002xgy.2_Missense_Mutation_p.G26S	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	26					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAACGTGCACGGCGCTGGCGG	0.741		NaN											0	0	0	0.004482	0	4	31				
KCNQ2	3785	broad.mit.edu	37	20	62044922	62044922	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr20:62044922G>A	uc002yey.1	-	15	1821	c.1644C>T	c.(1642-1644)TTC>TTT	p.F548F	KCNQ2_uc002yez.1_Silent_p.F517F|KCNQ2_uc002yfa.1_Silent_p.F530F|KCNQ2_uc002yfb.1_Silent_p.F520F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	548	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGACACCAGGAACCGCATGA	0.647		NaN											0	0	0	0.013726	0	30	85				
BCL2L13	23786	broad.mit.edu	37	22	18210132	18210132	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr22:18210132G>A	uc002zmw.2	+	7	1508	c.1290G>A	c.(1288-1290)GAG>GAA	p.E430E	BCL2L13_uc002zmx.2_Silent_p.E268E|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.E268E|BCL2L13_uc011agk.1_Silent_p.E306E|BCL2L13_uc010gqz.2_Silent_p.E150E|BCL2L13_uc002zmz.2_Silent_p.E268E|BCL2L13_uc002zna.2_Silent_p.E150E	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	430	B.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCCAGCGAGAAGAAGCCCG	0.592		NaN											0	0	0	0.016723	0	12	29				
GNAZ	2781	broad.mit.edu	37	22	23438065	23438065	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr22:23438065C>T	uc002zwu.1	+	2	720	c.183C>T	c.(181-183)TTC>TTT	p.F61F	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	61						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCGGCGGCTTCAACCTGGAGG	0.597		NaN											0	0	0	0.01441	0	56	98				
NDUFA6	4700	broad.mit.edu	37	22	42486786	42486786	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr22:42486786C>G	uc003bcb.2	-	1	103	c.41G>C	c.(40-42)TGC>TCC	p.C14S	uc003bcc.1_5'Flank|uc003bcd.1_5'Flank	NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	14					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CACCCCTTTGCAAGCAGCGCG	0.622		NaN									OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	6	212				
FANCD2	2177	broad.mit.edu	37	3	10107166	10107166	+	Missense_Mutation	SNP	G	G	A	rs150217066		TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:10107166G>A	uc003buw.2	+	24	2335	c.2257G>A	c.(2257-2259)GAT>AAT	p.D753N	FANCD2_uc003bux.1_Missense_Mutation_p.D753N|FANCD2_uc003buy.1_Missense_Mutation_p.D753N|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	753					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGAGGAGATTGATGGTCTACT	0.448		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.013726	0	28	57				
NUP210	23225	broad.mit.edu	37	3	13367407	13367407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:13367407G>A	uc003bxv.1	-	33	4615	c.4532C>T	c.(4531-4533)TCA>TTA	p.S1511L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1511	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GCTGTTGGCCGAGGAGCTCCA	0.622		NaN											0	0	0	0.010504	0	14	76				
STAB1	23166	broad.mit.edu	37	3	52552854	52552854	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:52552854C>G	uc003dej.2	+	48	5077	c.5003C>G	c.(5002-5004)TCA>TGA	p.S1668*	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1668	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACGGCCCTCTCAGGGCACCCA	0.547		NaN											0	0	0	0.009096	0	4	27				
DCBLD2	131566	broad.mit.edu	37	3	98531284	98531284	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:98531284T>C	uc003dtd.2	-	10	1618	c.1255A>G	c.(1255-1257)AAC>GAC	p.N419D	DCBLD2_uc003dte.2_Missense_Mutation_p.N419D	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	419	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GGCAAAAAGTTATTACGCACA	0.348		NaN											0	0	0	0.010729	0	12	31				
TFG	10342	broad.mit.edu	37	3	100463681	100463681	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:100463681G>C	uc003due.2	+	7	1175	c.726G>C	c.(724-726)CAG>CAC	p.Q242H	TFG_uc003duf.2_Missense_Mutation_p.Q242H|TFG_uc003dug.2_Missense_Mutation_p.Q238H|TFG_uc003duh.2_Missense_Mutation_p.Q238H|TFG_uc003dui.2_Missense_Mutation_p.Q242H	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	242					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						TTTCAGGTCAGATGTACCAAC	0.458		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	0.01441	0	45	102				
GRAMD1C	54762	broad.mit.edu	37	3	113619898	113619898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:113619898C>G	uc003eaq.3	+	7	637	c.561C>G	c.(559-561)TTC>TTG	p.F187L	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.F20L|GRAMD1C_uc003eas.2_5'UTR	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	187						integral to membrane				ovary(2)|skin(1)	3						GACAGGAATTCTGGCAACTGC	0.373		NaN											0	0	0	0.01892	0	20	48				
RBP1	5947	broad.mit.edu	37	3	139236517	139236517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr3:139236517C>T	uc003eti.2	-	4	657	c.546G>A	c.(544-546)ATG>ATA	p.M182I		NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	120						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	CTTCCACTCTCATCTCCTGAA	0.488		NaN											0	0	0	0.00623	0	34	92				
ZNF732	654254	broad.mit.edu	37	4	265271	265272	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr4:265271_265272CA>TG	uc011buu.1	-	3	1385_1386	c.1371_1372TG>CA	c.(1369-1374)TCTGCA>TCCACA	p.A458T	ZNF732_uc010ibb.1_Intron	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	zinc finger protein 732	459	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCAGGTATGCAGACCATCCAA	0.391		NaN											0	0	0	0.004672	0	3	8				
UGT2B28	54490	broad.mit.edu	37	4	70160324	70160324	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr4:70160324T>A	uc003hej.2	+	6	1389	c.1387T>A	c.(1387-1389)TGG>AGG	p.W463R	UGT2B28_uc010ihr.2_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	463					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	AGCAGTCTTCTGGATTGAATT	0.413		NaN											0	0	0	0.00874	0	33	79				
CCRN4L	25819	broad.mit.edu	37	4	139966392	139966392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr4:139966392G>C	uc003ihl.2	+	3	1253	c.1060G>C	c.(1060-1062)GAT>CAT	p.D354H		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	354					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					GCTGAGTGCTGATGGGCAGTC	0.517		NaN											0	0	0	0.00499	0	15	47				
HAND2	9464	broad.mit.edu	37	4	174450071	174450071	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr4:174450071C>G	uc003ith.1	-	1	1308	c.370G>C	c.(370-372)GAG>CAG	p.E124Q	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.R89P|HAND2_uc010ire.1_Missense_Mutation_p.E124Q	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	124	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGGATGCACTCGCGCAGTTCG	0.557		NaN											0	0	0	0.01441	0	44	131				
CCDC110	256309	broad.mit.edu	37	4	186379933	186379933	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr4:186379933C>T	uc003ixu.3	-	6	1884	c.1808G>A	c.(1807-1809)GGA>GAA	p.G603E	CCDC110_uc003ixv.3_Missense_Mutation_p.G566E|CCDC110_uc011ckt.1_Missense_Mutation_p.G603E	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	603	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TAGTTCATTTCCAAGTGAGCT	0.323		NaN											0	0	0	0.016723	0	11	21				
CDH10	1008	broad.mit.edu	37	5	24491853	24491853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:24491853C>G	uc003jgr.1	-	11	2040	c.1708G>C	c.(1708-1710)GAC>CAC	p.D570H	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	570	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TAATCATTGTCTGATATCACC	0.413		NaN								HNSCC(23;0.051)			0	0	0	0.004672	0	3	45				
PDZD2	23037	broad.mit.edu	37	5	32074304	32074304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:32074304C>T	uc003jhl.2	+	18	3480	c.3092C>T	c.(3091-3093)TCG>TTG	p.S1031L	PDZD2_uc003jhm.2_Missense_Mutation_p.S1031L|PDZD2_uc011cnx.1_Missense_Mutation_p.S857L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1031					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAGGCCATCTCGGCACCTCTT	0.567		NaN											0	0	0	0.01441	0	54	28				
DHX29	54505	broad.mit.edu	37	5	54586091	54586091	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:54586091G>C	uc003jpx.2	-	7	982	c.862C>G	c.(862-864)CAA>GAA	p.Q288E	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	288	Potential.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTGGCCTTGCTTGTTTTTT	0.328		NaN											0	0	0	0.004672	0	3	8				
DEPDC1B	55789	broad.mit.edu	37	5	59893730	59893730	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:59893730G>A	uc003jsh.2	-	11	1513	c.1440C>T	c.(1438-1440)TCC>TCT	p.S480S	DEPDC1B_uc011cqm.1_Silent_p.S418S|DEPDC1B_uc011cqn.1_Silent_p.S391S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CTTCAGGATAGGATTTCTGAA	0.383		NaN											0	0	0	0.009096	0	4	11				
GCNT4	51301	broad.mit.edu	37	5	74324587	74324587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:74324587C>G	uc003kdn.2	-	1	2138	c.1276G>C	c.(1276-1278)GAA>CAA	p.E426Q		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	426	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAAGCTTTTCTGCCAAGCAT	0.373		NaN											0	0	0	0.003163	0	13	25				
ANKRD32	84250	broad.mit.edu	37	5	94027275	94027275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:94027275C>A	uc003kkr.3	+	19	2506	c.2426C>A	c.(2425-2427)ACA>AAA	p.T809K	ANKRD32_uc003kks.2_Missense_Mutation_p.T173K	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	809	ANK 1.									ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GCAGGAGAAACAGCCCTGCAT	0.353		NaN											1	0	0.00621372	0.006214	0.00642651	7	22				
KCTD16	57528	broad.mit.edu	37	5	143587001	143587001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:143587001G>A	uc003lnm.1	+	3	1353	c.724G>A	c.(724-726)GAG>AAG	p.E242K	KCTD16_uc003lnn.1_Missense_Mutation_p.E242K	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	242						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TATGTTGTCAGAGTGTGGATT	0.428		NaN											0	0	0	0.012213	0	26	66				
SCGN	10590	broad.mit.edu	37	6	25665182	25665182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:25665182G>A	uc003nfb.2	+	4	461	c.258G>A	c.(256-258)ATG>ATA	p.M86I	SCGN_uc010jpz.2_5'UTR	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	86	EF-hand 2.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						TTGCTGGTATGTTCTTATCTG	0.478		NaN											0	0	0	0.010504	0	15	38				
HIST1H2BO	8348	broad.mit.edu	37	6	27861555	27861555	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:27861555G>A	uc003nkc.1	+	1	353	c.315G>A	c.(313-315)GGG>GGA	p.G105G	HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	105					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TGCTGCCCGGGGAGCTGGCCA	0.642		NaN											0	0	0	0.001984	0	4	114				
IER3	8870	broad.mit.edu	37	6	30712140	30712140	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:30712140G>A	uc003nrn.2	-	1	188	c.156C>T	c.(154-156)CCC>CCT	p.P52P	FLOT1_uc003nrm.2_5'Flank|FLOT1_uc011dmr.1_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	immediate early response 3	52	Cytoplasmic (Potential).				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding				0						GAGAGGCGCTGGGGCGCCCGG	0.731		NaN											0	0	0	0.004672	0	3	7				
PBX2	5089	broad.mit.edu	37	6	32155525	32155525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:32155525C>T	uc003oav.1	-	5	1040	c.769G>A	c.(769-771)GAG>AAG	p.E257K	PBX2_uc003oaw.2_Missense_Mutation_p.E257K	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	257	Homeobox; TALE-type.						transcription factor binding			ovary(1)	1						TTTAGGACCTCAGTGGCCTGT	0.527		NaN											0	0	0	0.00308	0	7	19				
TFAP2B	7021	broad.mit.edu	37	6	50791308	50791308	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:50791308C>T	uc003pag.2	+	2	436	c.270C>T	c.(268-270)AAC>AAT	p.N90N		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	90	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					CCCACGTCAACGACCCCTACT	0.672		NaN											0	0	0	0.012213	0	26	59				
HMGCLL1	54511	broad.mit.edu	37	6	55360317	55360317	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:55360317A>T	uc003pcn.2	-	8	944	c.785T>A	c.(784-786)ATG>AAG	p.M262K	HMGCLL1_uc003pco.2_Missense_Mutation_p.M232K|HMGCLL1_uc010jzx.2_Missense_Mutation_p.M133K|HMGCLL1_uc011dxc.1_Missense_Mutation_p.M200K|HMGCLL1_uc011dxd.1_Missense_Mutation_p.M129K|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	262							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTTCCAACATTCTTTTCAT	0.443		NaN											0	0	0	0.007413	0	17	44				
GABRR2	2570	broad.mit.edu	37	6	90024839	90024839	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:90024839C>A	uc003pnb.2	-	1	129	c.121G>T	c.(121-123)GTT>TTT	p.V41F		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	41					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TCCACGAGAACCATCAAGCAA	0.473		NaN											1	0	9.53978e-28	0.01441	1.07501e-27	54	143				
MCHR2	84539	broad.mit.edu	37	6	100395738	100395738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:100395738C>G	uc003pqh.1	-	3	607	c.292G>C	c.(292-294)GAG>CAG	p.E98Q	MCHR2_uc003pqi.1_Missense_Mutation_p.E98Q	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	98	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AACACCCACTCTCCCCCTCGG	0.493		NaN											0	0	0	0.009096	0	4	130				
TSPYL1	7259	broad.mit.edu	37	6	116600209	116600209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:116600209C>G	uc003pwp.3	-	1	1072	c.785G>C	c.(784-786)CGA>CCA	p.R262P	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	262					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CAGGTAGTGTCGACGCATCCG	0.567		NaN											0	0	0	0.015359	0	29	110				
AKAP7	9465	broad.mit.edu	37	6	131490373	131490373	+	Silent	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:131490373G>A	uc003qck.2	+	5	582	c.549G>A	c.(547-549)CTG>CTA	p.L183L	AKAP7_uc011ebz.1_Silent_p.L161L|AKAP7_uc003qcl.1_Silent_p.L64L	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTGTGAAGCTGGCAGAAGGAG	0.378		NaN											0	0	0	0.007835	0	34	102				
TCP10L2	401285	broad.mit.edu	37	6	167590518	167590518	+	Silent	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr6:167590518C>T	uc010kkp.2	+	4	525	c.394C>T	c.(394-396)CTG>TTG	p.L132L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	132											0						AATTTCACCTCTGTCAGCTGA	0.418		NaN											0	0	0	0.008871	0	12	43				
DNAH11	8701	broad.mit.edu	37	7	21695538	21695538	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:21695538G>C	uc003svc.2	+	29	5079	c.5048G>C	c.(5047-5049)GGA>GCA	p.G1683A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1683	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGGGCAGTTGGAATGTACAGC	0.428		NaN							Kartagener_syndrome				0	0	0	0.009096	0	4	35				
PKD1L1	168507	broad.mit.edu	37	7	47832313	47832313	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:47832313G>C	uc003tny.1	-	56	8438	c.8438C>G	c.(8437-8439)CCC>CGC	p.P2813R	C7orf69_uc003tnz.3_5'Flank|C7orf69_uc003toa.1_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2813	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TTCCAGAAGGGGGAGTTGTAG	0.428		NaN											0	0	0	0.008361	0	27	64				
SPDYE5	442590	broad.mit.edu	37	7	75130883	75130883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:75130883G>A	uc011kfy.1	+	6	894	c.758G>A	c.(757-759)CGT>CAT	p.R253H		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	253	Arg-rich.										0						CAGTTAGGCCGTTCCATGAAC	0.592		NaN											0	0	0	0.004482	0	6	239				
CROT	54677	broad.mit.edu	37	7	87011302	87011302	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:87011302G>C	uc003uit.2	+	11	1300	c.1055G>C	c.(1054-1056)AGA>ACA	p.R352T	CROT_uc003uiu.2_Missense_Mutation_p.R380T	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	352					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AATGAAGGAAGATGGAAGGTA	0.303		NaN											0	0	0	0.009096	0	4	31				
CASD1	64921	broad.mit.edu	37	7	94164632	94164632	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:94164632G>A	uc003uni.3	+	8	867	c.640G>A	c.(640-642)GAA>AAA	p.E214K	CASD1_uc003unh.2_Intron|CASD1_uc003unj.3_Missense_Mutation_p.E214K	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	214						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCTGTTTATGAAGATCTATT	0.328		NaN											0	0	0	0.004007	0	14	42				
TAF6	6878	broad.mit.edu	37	7	99709745	99709745	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:99709745C>T	uc003uti.2	-	7	787	c.706G>A	c.(706-708)GAG>AAG	p.E236K	TAF6_uc003utg.2_Missense_Mutation_p.E158K|TAF6_uc003uth.2_Missense_Mutation_p.E293K|TAF6_uc003utk.2_Missense_Mutation_p.E236K|TAF6_uc011kji.1_Missense_Mutation_p.E273K|TAF6_uc003utj.2_Missense_Mutation_p.E226K|TAF6_uc003utl.2_Missense_Mutation_p.E236K|TAF6_uc003utm.2_Missense_Mutation_p.E236K|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	236					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTTGGCCTCGCAGGAGCCC	0.672		NaN											0	0	0	0.00308	0	7	12				
ZNF282	8427	broad.mit.edu	37	7	148895819	148895819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr7:148895819C>T	uc003wfm.2	+	2	665	c.560C>T	c.(559-561)CCG>CTG	p.P187L	ZNF282_uc011kun.1_Missense_Mutation_p.P187L|ZNF282_uc003wfn.2_Missense_Mutation_p.P127L|ZNF282_uc003wfo.2_Missense_Mutation_p.P127L	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	187					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGGCTGCCCCCGGGCAGCAAG	0.597		NaN											0	0	0	0.016723	0	10	64				
DOCK5	80005	broad.mit.edu	37	8	25174557	25174557	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr8:25174557C>G	uc003xeg.2	+	14	1490	c.1353C>G	c.(1351-1353)ATC>ATG	p.I451M	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I165M|DOCK5_uc003xei.2_Missense_Mutation_p.I21M	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	451	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCACCCTGATCCACGGTGAGT	0.478		NaN											0	0	0	0.004672	0	3	53				
CER1	9350	broad.mit.edu	37	9	14720234	14720234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr9:14720234G>A	uc003zlj.2	-	2	703	c.658C>T	c.(658-660)CCA>TCA	p.P220S		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	220	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGTTCAGTGGCAAGTGCATC	0.542		NaN											0	0	0	0.00308	0	5	134				
C9orf64	84267	broad.mit.edu	37	9	86571110	86571110	+	Silent	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr9:86571110C>A	uc004anb.2	-	1	554	c.306G>T	c.(304-306)CTG>CTT	p.L102L	C9orf64_uc004anc.2_5'UTR	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	102											0						CGGCGGCGCACAGGGACCAGT	0.552		NaN											1	0	3.66854e-30	0.007835	4.19659e-30	30	137				
IKBKAP	8518	broad.mit.edu	37	9	111663910	111663910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr9:111663910C>T	uc004bdm.3	-	17	2426	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	IKBKAP_uc004bdl.2_Missense_Mutation_p.E287K|IKBKAP_uc011lwc.1_Missense_Mutation_p.E522K|IKBKAP_uc010mtq.2_Missense_Mutation_p.E287K	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	636					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						CTTGATACCTCAATGTCATTG	0.433		NaN											0	0	0	0.007413	0	16	51				
SHOX	6473	broad.mit.edu	37	X	591697	591697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:591697G>A	uc004cph.1	+	2	756	c.65G>A	c.(64-66)GGA>GAA	p.G22E	SHOX_uc004cpi.2_Missense_Mutation_p.G22E	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	22	Poly-Gly.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTAACGGCGGAGGCGGAGGC	0.627		NaN											0	0	0	0.014758	0	5	220				
IRS4	8471	broad.mit.edu	37	X	107977994	107977994	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107977994C>A	uc004eoc.2	-	1	1614	c.1581G>T	c.(1579-1581)CAG>CAT	p.Q527H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	527						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTCGGGATCCCTGTCCCTCGC	0.632		NaN											1	0	1.10513e-12	0.014323	1.20924e-12	17	133				
IRS4	8471	broad.mit.edu	37	X	107977998	107977998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107977998C>T	uc004eoc.2	-	1	1610	c.1577G>A	c.(1576-1578)GGA>GAA	p.G526E		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	526						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GGATCCCTGTCCCTCGCCTGA	0.632		NaN											0	0	0	0.012319	0	16	130				
IRS4	8471	broad.mit.edu	37	X	107978050	107978050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107978050C>T	uc004eoc.2	-	1	1558	c.1525G>A	c.(1525-1527)GGC>AGC	p.G509S		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	509						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GAGCCTTGGCCATTTGAGCCC	0.597		NaN											0	0	0	0.020292	0	10	93				
IRS4	8471	broad.mit.edu	37	X	107978105	107978105	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107978105C>G	uc004eoc.2	-	1	1503	c.1470G>C	c.(1468-1470)ATG>ATC	p.M490I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	490	YXXM motif 1.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCCAATTGTTCATAGGCATGT	0.562		NaN											0	0	0	0.016723	0	9	82				
IRS4	8471	broad.mit.edu	37	X	107978119	107978119	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107978119C>T	uc004eoc.2	-	1	1489	c.1456G>A	c.(1456-1458)GAC>AAC	p.D486N		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	486						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GGCATGTAGTCACCTCCGCTT	0.577		NaN											0	0	0	0.004482	0	7	78				
IRS4	8471	broad.mit.edu	37	X	107978140	107978140	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107978140C>G	uc004eoc.2	-	1	1468	c.1435G>C	c.(1435-1437)GAT>CAT	p.D479H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	479						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCTTCCTGATCTTCTTTGCCC	0.577		NaN											0	0	0	0.010729	0	9	64				
IRS4	8471	broad.mit.edu	37	X	107978233	107978233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:107978233C>T	uc004eoc.2	-	1	1375	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	448						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TTCGGGGCTTCTGCAGGGTGC	0.612		NaN											0	0	0	0.001168	0	6	59				
GDI1	2664	broad.mit.edu	37	X	153668396	153668396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chrX:153668396C>T	uc004fli.3	+	5	839	c.497C>T	c.(496-498)ACC>ATC	p.T166I	GDI1_uc011mzo.1_Missense_Mutation_p.T166I|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	166					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGACTACCAGCATGCGT	0.552		NaN											0	0	0	0.004482	0	6	290				
MIB2	142678	broad.mit.edu	37	1	1551937	1551937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1551937C>T	uc001agg.2	+	2	180	c.53C>T	c.(52-54)TCA>TTA	p.S18L	MIB2_uc001agh.2_Missense_Mutation_p.S18L|MIB2_uc001agi.2_Missense_Mutation_p.S18L|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.S18L|MIB2_uc001agl.1_5'UTR|MIB2_uc001agm.2_5'UTR|MIB2_uc010nyq.1_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	18					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCCAGGCATCAGGGCTGCAG	0.652		NaN											0	0	0	1	0	13	27				
KIAA1751	85452	broad.mit.edu	37	1	1903481	1903481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1903481C>T	uc001aim.1	-	9	982	c.826G>A	c.(826-828)GAG>AAG	p.E276K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E276K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	276										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTCATGTACTCGTGGCACTCC	0.502		NaN											0	0	0	1	0	46	106				
PRDM16	63976	broad.mit.edu	37	1	3348546	3348546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3348546G>T	uc001akf.2	+	16	3618	c.3538G>T	c.(3538-3540)GAA>TAA	p.E1180*	PRDM16_uc001akc.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E1180*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E880*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1180	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGAGGACCACGAAGGCGGTCT	0.592		NaN	T	EVI1	MDS|AML								1	0	4.96729e-08	1	5.15295e-08	16	69				
CCDC27	148870	broad.mit.edu	37	1	3679963	3679963	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3679963G>C	uc001akv.2	+	7	1327	c.1246G>C	c.(1246-1248)GAG>CAG	p.E416Q		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	416	Glu-rich.									skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCCAGCTGGAGGAGTACGA	0.522		NaN											0	0	0	1	0	30	71				
DNAJC11	55735	broad.mit.edu	37	1	6727843	6727843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:6727843C>T	uc001aof.2	-	4	410	c.304G>A	c.(304-306)GAA>AAA	p.E102K	DNAJC11_uc010nzt.1_Missense_Mutation_p.E64K|DNAJC11_uc001aog.2_Missense_Mutation_p.E102K|DNAJC11_uc010nzu.1_Missense_Mutation_p.E12K	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	102					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAATTTCAGCAGGGGTT	0.522		NaN											0	0	0	1	0	17	45				
SLC45A1	50651	broad.mit.edu	37	1	8399747	8399747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:8399747C>T	uc001apb.2	+	7	1969	c.1969C>T	c.(1969-1971)CAG>TAG	p.Q657*	SLC45A1_uc001apc.2_Nonsense_Mutation_p.Q355*	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	657					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGATTACTATCAGAGTAAGAA	0.463		NaN											0	0	0	1	0	44	148				
PGD	5226	broad.mit.edu	37	1	10479590	10479590	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:10479590C>T	uc001arc.2	+	12	1416	c.1326C>T	c.(1324-1326)CTC>CTT	p.L442L	PGD_uc001ard.2_Silent_p.L362L|PGD_uc010oak.1_Silent_p.L420L|PGD_uc010oal.1_Silent_p.L429L	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	442					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CAGCCAGCCTCATCCAGGTAA	0.592		NaN											0	0	0	1	0	36	141				
C1orf187	374946	broad.mit.edu	37	1	11772015	11772015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:11772015G>C	uc001asr.1	+	4	890	c.750G>C	c.(748-750)AAG>AAC	p.K250N		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	250					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCTCTGCAAAGAAGAAAGGTA	0.582		NaN											0	0	0	1	0	7	16				
VPS13D	55187	broad.mit.edu	37	1	12343399	12343399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12343399G>A	uc001atv.2	+	21	5381	c.5240G>A	c.(5239-5241)CGG>CAG	p.R1747Q	VPS13D_uc001atw.2_Missense_Mutation_p.R1747Q|VPS13D_uc001atx.2_Missense_Mutation_p.R935Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1747					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGCGTCCCGGAAAAAGCAA	0.478		NaN											0	0	0	1	0	14	44				
VPS13D	55187	broad.mit.edu	37	1	12516150	12516150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12516150G>A	uc001atv.2	+	66	12571	c.12430G>A	c.(12430-12432)GAA>AAA	p.E4144K	VPS13D_uc001atw.2_Missense_Mutation_p.E4119K|VPS13D_uc001atx.2_Missense_Mutation_p.E3331K|VPS13D_uc009vnl.2_Intron|VPS13D_uc010obd.1_Missense_Mutation_p.E142K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4143					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACAAGTGGTGAACACCTTGT	0.527		NaN											0	0	0	1	0	18	77				
PRDM2	7799	broad.mit.edu	37	1	14107448	14107448	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107448C>T	uc001avi.2	+	8	4014	c.3158C>T	c.(3157-3159)TCT>TTT	p.S1053F	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1053F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S852F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1053	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACTttcttcttcctcctct	0.388		NaN											0	0	0	1	0	21	68				
PRDM2	7799	broad.mit.edu	37	1	14107484	14107484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107484C>G	uc001avi.2	+	8	4050	c.3194C>G	c.(3193-3195)TCT>TGT	p.S1065C	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1065C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S864C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1065	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		tcttcgttttcttcttcatct	0.368		NaN											0	0	0	1	0	21	48				
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:15844829C>T	uc001awn.2	-	2	289	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	CASP9_uc001awm.1_Missense_Mutation_p.R65Q|CASP9_uc001awo.2_Missense_Mutation_p.R65Q|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	65	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGACTCCCTCGAGTCTCCAG	0.527		NaN											0	0	0	1	0	25	80				
TMEM82	388595	broad.mit.edu	37	1	16073402	16073402	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16073402G>A	uc001axc.2	+	5	936	c.798G>A	c.(796-798)CAG>CAA	p.Q266Q		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	266	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGTGCAGACGGTGCTGG	0.682		NaN											0	0	0	1	0	6	24				
CLCNKB	1188	broad.mit.edu	37	1	16382217	16382217	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16382217G>A	uc001axw.3	+	18	1973	c.1893G>A	c.(1891-1893)GTG>GTA	p.V631V	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V631V|CLCNKB_uc001axy.3_Silent_p.V461V	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	631	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAACCAGTGACCCTGAAGC	0.617		NaN											0	0	0	1	0	19	100				
ARHGEF19	128272	broad.mit.edu	37	1	16534235	16534235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16534235C>T	uc001ayc.1	-	4	869	c.732G>A	c.(730-732)ATG>ATA	p.M244I	ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	244					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCGCTCATCTCTACAC	0.672		NaN											0	0	0	1	0	21	77				
ATP13A2	23400	broad.mit.edu	37	1	17328531	17328531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:17328531C>T	uc001baa.2	-	8	893	c.703G>A	c.(703-705)GAG>AAG	p.E235K	ATP13A2_uc001bab.2_Missense_Mutation_p.E230K|ATP13A2_uc001bac.2_Missense_Mutation_p.E230K|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'Flank	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	235	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGCCCTACCTCGTCCACCAGC	0.383		NaN											0	0	0	1	0	11	24				
IGSF21	84966	broad.mit.edu	37	1	18661423	18661423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:18661423G>T	uc001bau.1	+	4	726	c.343G>T	c.(343-345)GAG>TAG	p.E115*		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	115	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGTCCCTATGAGTGCCATGT	0.622		NaN											1	0	1.40151e-16	1	1.48112e-16	22	52				
NBPF3	84224	broad.mit.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:21795329C>G	uc001ber.2	+	3	632	c.282C>G	c.(280-282)CTC>CTG	p.L94L	NBPF3_uc001bes.2_Silent_p.L38L|NBPF3_uc009vqb.2_Silent_p.L94L|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	36	128				
HSPG2	3339	broad.mit.edu	37	1	22203044	22203044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22203044G>A	uc001bfj.2	-	22	2827	c.2787C>T	c.(2785-2787)GTC>GTT	p.V929V	HSPG2_uc009vqd.2_Silent_p.V930V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	929	Laminin EGF-like 5; first part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGGCGACTGACACCCATGC	0.622		NaN											0	0	0	1	0	19	52				
ZBTB40	9923	broad.mit.edu	37	1	22832611	22832611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22832611G>A	uc001bft.2	+	7	1748	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	ZBTB40_uc001bfu.2_Missense_Mutation_p.E413K|ZBTB40_uc009vqi.1_Missense_Mutation_p.E301K|ZBTB40_uc001bfv.1_Missense_Mutation_p.E42K	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	413					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGAATGACTGAAGAGAAGAC	0.483		NaN											0	0	0	1	0	7	51				
CNR2	1269	broad.mit.edu	37	1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:24201626G>A	uc001bif.2	-	2	609	c.482C>T	c.(481-483)TCA>TTA	p.S161L		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161	Helical; Name=4; (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587		NaN											0	0	0	1	0	23	64				
MAP3K6	9064	broad.mit.edu	37	1	27683551	27683551	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:27683551C>A	uc001bny.1	-	24	3562	c.3313G>T	c.(3313-3315)GAC>TAC	p.D1105Y	MAP3K6_uc009vsw.1_Missense_Mutation_p.D1097Y	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1105					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGAGTCCAGAACGAAC	0.652		NaN											1	0	1.67942e-08	1	1.74647e-08	15	49				
OPRD1	4985	broad.mit.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:29189416C>T	uc001brf.1	+	3	982	c.740C>T	c.(739-741)TCG>TTG	p.S247L		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	247	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CGCCTGCTGTCGGGCTCCAAG	0.632		NaN											0	0	0	1	0	14	34				
LAPTM5	7805	broad.mit.edu	37	1	31210457	31210457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:31210457G>C	uc001bsc.2	-	6	691	c.600C>G	c.(598-600)ATC>ATG	p.I200M		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	200	Helical; (Potential).				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTGAAGATAAGGACAG	0.542		NaN											0	0	0	1	0	26	57				
KHDRBS1	10657	broad.mit.edu	37	1	32508200	32508200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32508200G>C	uc001bub.2	+	9	1413	c.1307G>C	c.(1306-1308)AGA>ACA	p.R436T	KHDRBS1_uc001bua.1_Missense_Mutation_p.R397T|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	436					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAGCATACAGAGAGCACCCA	0.468		NaN											0	0	0	1	0	15	33				
IQCC	55721	broad.mit.edu	37	1	32671825	32671825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32671825G>A	uc001bum.2	+	2	160	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	IQCC_uc009vua.2_Missense_Mutation_p.R118Q|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	38								p.R38G(1)		ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGATTGTACGAGAGGTCGAG	0.612		NaN											0	0	0	1	0	35	108				
IQCC	55721	broad.mit.edu	37	1	32673000	32673000	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32673000G>C	uc001bum.2	+	5	765	c.718G>C	c.(718-720)GAG>CAG	p.E240Q	IQCC_uc009vua.2_Missense_Mutation_p.E320Q|IQCC_uc010ogz.1_Missense_Mutation_p.E140Q|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	240										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GACCACTGGAGAGCTAGAACA	0.547		NaN											0	0	0	1	0	22	49				
TSSK3	81629	broad.mit.edu	37	1	32828367	32828367	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32828367C>G	uc001bvf.2	+	1	506	c.65C>G	c.(64-66)TCA>TGA	p.S22*	uc001bve.1_RNA	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	22	ATP (By similarity).|Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGGACCTACTCAAAAGTCAAA	0.507		NaN											0	0	0	1	0	52	162				
RBBP4	5928	broad.mit.edu	37	1	33138099	33138099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:33138099G>A	uc001bvr.2	+	9	1174	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N	RBBP4_uc001bvs.2_Missense_Mutation_p.D338N|RBBP4_uc010ohj.1_Missense_Mutation_p.D87N|RBBP4_uc010ohk.1_Missense_Mutation_p.D304N	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	339	WD 5.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTGGTACTGATCGCAGACT	0.358		NaN											0	0	0	1	0	16	22				
DLGAP3	58512	broad.mit.edu	37	1	35370141	35370141	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:35370141C>T	uc001byc.2	-	1	844	c.844G>A	c.(844-846)GAG>AAG	p.E282K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	282					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCACCAGGCTCCCCAGGGGGC	0.677		NaN											0	0	0	1	0	33	146				
EIF2C3	192669	broad.mit.edu	37	1	36475127	36475127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36475127C>G	uc001bzp.2	+	9	1337	c.1081C>G	c.(1081-1083)CAG>GAG	p.Q361E	EIF2C3_uc001bzq.2_Missense_Mutation_p.Q127E	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	361					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACAGACAATCAGACTTCCAC	0.343		NaN											0	0	0	1	0	13	40				
MAP7D1	55700	broad.mit.edu	37	1	36641826	36641826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36641826G>C	uc001bzz.2	+	7	1093	c.877G>C	c.(877-879)GAG>CAG	p.E293Q	MAP7D1_uc001caa.2_Missense_Mutation_p.E293Q|MAP7D1_uc001cab.2_Missense_Mutation_p.E256Q|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	293						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GAGCGCATGGGAGAGCAGCAT	0.667		NaN											0	0	0	1	0	9	53				
CSF3R	1441	broad.mit.edu	37	1	36933742	36933742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36933742C>T	uc001caw.1	-	13	1835	c.1657G>A	c.(1657-1659)GAG>AAG	p.E553K	CSF3R_uc001cat.1_Missense_Mutation_p.E116K|CSF3R_uc009vvc.1_Missense_Mutation_p.E82K|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.E553K|CSF3R_uc001cax.1_Missense_Mutation_p.E553K|CSF3R_uc001cay.1_Missense_Mutation_p.E553K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	553	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCCCAGCTCAGGGGGCTCA	0.592		NaN											0	0	0	1	0	30	81				
TRIT1	54802	broad.mit.edu	37	1	40313303	40313303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:40313303G>A	uc010oiz.1	-	7	859	c.845C>T	c.(844-846)TCA>TTA	p.S282L	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Intron|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.S36L|TRIT1_uc001ceh.3_Missense_Mutation_p.S36L|TRIT1_uc009vvv.2_Missense_Mutation_p.S141L|TRIT1_uc001cei.3_Missense_Mutation_p.S36L|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.S200L|TRIT1_uc001cen.2_Missense_Mutation_p.S36L|TRIT1_uc001ceo.2_Missense_Mutation_p.S36L|TRIT1_uc001cep.2_Missense_Mutation_p.S36L	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	282	Interaction with substrate tRNA (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAATTGATTGGAAGAT	0.378		NaN											0	0	0	1	0	43	111				
ZNF684	127396	broad.mit.edu	37	1	41006357	41006357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:41006357G>A	uc001cft.1	+	3	366	c.115G>A	c.(115-117)GAG>AAG	p.E39K		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGTGATGTTGGAGAACTATAG	0.433		NaN											0	0	0	1	0	34	117				
ERMAP	114625	broad.mit.edu	37	1	43308331	43308331	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:43308331G>C	uc001cic.1	+	12	1126	c.856G>C	c.(856-858)GAG>CAG	p.E286Q	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.E286Q|ERMAP_uc001cif.1_Missense_Mutation_p.E196Q	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	286	Cytoplasmic (Potential).|B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTAGGCTCTGAGTACTTCAC	0.507		NaN											0	0	0	1	0	27	124				
TOE1	114034	broad.mit.edu	37	1	45809319	45809319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45809319C>T	uc009vxq.2	+	8	2061	c.1478C>T	c.(1477-1479)TCT>TTT	p.S493F	TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.S413F|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	493						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGCCAGTTCTCTCGTTCCTCC	0.532		NaN											0	0	0	1	0	28	90				
TESK2	10420	broad.mit.edu	37	1	45811142	45811142	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811142G>C	uc001cns.1	-	11	1489	c.1086C>G	c.(1084-1086)ATC>ATG	p.I362M	TESK2_uc009vxr.1_Missense_Mutation_p.I333M|TESK2_uc010olo.1_Missense_Mutation_p.I279M|TESK2_uc009vxs.1_Missense_Mutation_p.I154M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	362					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					GAGACAGCCAGATGGTACGTC	0.537		NaN											0	0	0	1	0	15	57				
TESK2	10420	broad.mit.edu	37	1	45811226	45811226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811226G>A	uc001cns.1	-	11	1405	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	TESK2_uc009vxr.1_Silent_p.L305L|TESK2_uc010olo.1_Silent_p.L251L|TESK2_uc009vxs.1_Silent_p.L126L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	334					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCCAAGAGTCCTGAAG	0.438		NaN											0	0	0	1	0	12	50				
RAD54L	8438	broad.mit.edu	37	1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:46715746G>C	uc009vye.2	+	4	279	c.165G>C	c.(163-165)TTG>TTC	p.L55F	RAD54L_uc001cpl.2_Missense_Mutation_p.L55F	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	55					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	1	0	32	97				
DMRTA2	63950	broad.mit.edu	37	1	50884475	50884475	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:50884475G>A	uc010ona.1	-	2	1587	c.1491C>T	c.(1489-1491)TTC>TTT	p.F497F	DMRTA2_uc010onb.1_Silent_p.F497F	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	497	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						TGGGTGGGCGGAAGCCGAGCG	0.726		NaN											0	0	0	1	0	8	17				
NRD1	4898	broad.mit.edu	37	1	52258060	52258060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52258060C>G	uc001ctc.3	-	27	3338	c.3016G>C	c.(3016-3018)GAG>CAG	p.E1006Q	NRD1_uc009vzb.2_Missense_Mutation_p.E701Q|NRD1_uc001ctd.3_Missense_Mutation_p.E938Q|NRD1_uc001cte.2_Missense_Mutation_p.E874Q|NRD1_uc001ctf.2_Missense_Mutation_p.E938Q	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	937					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						ACAAGCAGCTCCATAAGCGTA	0.488		NaN											0	0	0	1	0	12	63				
ZCCHC11	23318	broad.mit.edu	37	1	52941198	52941198	+	Missense_Mutation	SNP	G	G	A	rs143625963	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52941198G>A	uc001ctx.2	-	13	2267	c.2033C>T	c.(2032-2034)TCA>TTA	p.S678L	ZCCHC11_uc001cty.2_Missense_Mutation_p.S678L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S678L|ZCCHC11_uc009vze.1_Missense_Mutation_p.S678L|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S437L|ZCCHC11_uc001cub.2_Missense_Mutation_p.S678L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	678	PAP-associated 1.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CCTCTTGACTGAAAATGGATC	0.393		NaN											0	0	0	1	0	8	22				
PODN	127435	broad.mit.edu	37	1	53540288	53540288	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53540288G>C	uc001cuv.2	+	4	568	c.561G>C	c.(559-561)GAG>GAC	p.E187D	PODN_uc001cuw.2_Missense_Mutation_p.E168D|PODN_uc010onr.1_Missense_Mutation_p.E168D|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	139	LRR 2.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GGCTCCCAGAGAAGGCGTTTG	0.607		NaN											0	0	0	1	0	62	212				
SLC1A7	6512	broad.mit.edu	37	1	53580452	53580452	+	Missense_Mutation	SNP	C	C	G	rs149844615	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53580452C>G	uc001cuy.2	-	3	577	c.409G>C	c.(409-411)GAT>CAT	p.D137H	SLC1A7_uc001cuz.3_Missense_Mutation_p.D137H|uc001cva.1_RNA	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	137	Extracellular (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AACAGGGCATCGGCTGAGCTC	0.642		NaN											0	0	0	1	0	14	42				
TACSTD2	4070	broad.mit.edu	37	1	59042364	59042364	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59042364G>A	uc001cyz.3	-	1	803	c.465C>T	c.(463-465)CTC>CTT	p.L155L		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	155	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					GCAGGTCAATGAGGATGTGGT	0.692		NaN											0	0	0	1	0	7	22				
FGGY	55277	broad.mit.edu	37	1	59844459	59844459	+	Missense_Mutation	SNP	C	C	A	rs146728237	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59844459C>A	uc001czi.3	+	5	716	c.504C>A	c.(502-504)TTC>TTA	p.F168L	FGGY_uc001czg.2_Missense_Mutation_p.F56L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F168L|FGGY_uc001czj.3_Missense_Mutation_p.F168L|FGGY_uc001czk.3_Missense_Mutation_p.F56L|FGGY_uc001czl.3_Missense_Mutation_p.F80L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	168					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					CGGGACATTTCTTTGATCTCC	0.403		NaN											1	0	2.61681e-11	1	2.73642e-11	13	57				
INADL	10207	broad.mit.edu	37	1	62483543	62483543	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:62483543C>T	uc001dab.2	+	29	3997	c.3883C>T	c.(3883-3885)CTG>TTG	p.L1295L	INADL_uc009waf.1_Silent_p.L1295L|INADL_uc001daa.2_Silent_p.L1295L|INADL_uc001dad.3_Silent_p.L992L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.L79L|INADL_uc009wag.2_Silent_p.L79L|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1295	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CAATCAGATTCTGTATGGAAG	0.338		NaN											0	0	0	1	0	25	53				
FAM73A	374986	broad.mit.edu	37	1	78269066	78269066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:78269066C>G	uc001dhx.2	+	4	517	c.485C>G	c.(484-486)TCA>TGA	p.S162*	FAM73A_uc010ork.1_Nonsense_Mutation_p.S162*|FAM73A_uc010orl.1_Nonsense_Mutation_p.S124*|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	162						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		AGTAAATATTCAGGTTCTGCA	0.303		NaN											0	0	0	1	0	10	36				
CLCA1	1179	broad.mit.edu	37	1	86952367	86952367	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:86952367C>T	uc001dlt.2	+	7	1242	c.1113C>T	c.(1111-1113)CTC>CTT	p.L371L	CLCA1_uc001dls.1_Silent_p.L310L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	371	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGACACACTCGCCAAAAGAT	0.488		NaN											0	0	0	1	0	31	82				
TGFBR3	7049	broad.mit.edu	37	1	92177859	92177859	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92177859G>C	uc001doh.2	-	13	2573	c.2107C>G	c.(2107-2109)CTA>GTA	p.L703V	TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.L661V|TGFBR3_uc001doi.2_Missense_Mutation_p.L702V|TGFBR3_uc001doj.2_Missense_Mutation_p.L702V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	703	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCACACTGTAGAAAGAGCAGT	0.488		NaN											0	0	0	1	0	16	53				
GLMN	11146	broad.mit.edu	37	1	92752071	92752071	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752071G>A	uc001dor.2	-	7	826	c.711C>T	c.(709-711)TTC>TTT	p.F237F	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F237F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	237					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CAAAATACCTGAAAGGATCAT	0.333		NaN							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				0	0	0	1	0	16	38				
GLMN	11146	broad.mit.edu	37	1	92752143	92752143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752143G>A	uc001dor.2	-	7	754	c.639C>T	c.(637-639)TTC>TTT	p.F213F	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F213F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	213					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCAAGCTTTTGAAACAACTAA	0.318		NaN							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				0	0	0	1	0	14	40				
EVI5	7813	broad.mit.edu	37	1	92979392	92979392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92979392C>T	uc001dox.2	-	18	2264	c.2254G>A	c.(2254-2256)GAA>AAA	p.E752K	EVI5_uc010otf.1_Missense_Mutation_p.E763K	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	752	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACACCAGTTTCCTGTAAGGAA	0.428		NaN											0	0	0	1	0	17	81				
ARHGAP29	9411	broad.mit.edu	37	1	94668138	94668138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:94668138C>G	uc001dqj.3	-	11	1474	c.1105G>C	c.(1105-1107)GAA>CAA	p.E369Q	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E369Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	369	Potential.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CGCTTTTTTTCTAGTTGCTTG	0.393		NaN											0	0	0	1	0	29	89				
DPYD	1806	broad.mit.edu	37	1	97915689	97915689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:97915689C>T	uc001drv.2	-	14	1968	c.1831G>A	c.(1831-1833)GAG>AAG	p.E611K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	611					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTGATGAGCTCAATATTCAGA	0.448		NaN											0	0	0	1	0	19	81				
AGL	178	broad.mit.edu	37	1	100357997	100357997	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100357997G>C	uc001dsi.1	+	24	3493	c.3093G>C	c.(3091-3093)CAG>CAC	p.Q1031H	AGL_uc001dsj.1_Missense_Mutation_p.Q1031H|AGL_uc001dsk.1_Missense_Mutation_p.Q1031H|AGL_uc001dsl.1_Missense_Mutation_p.Q1031H|AGL_uc001dsm.1_Missense_Mutation_p.Q1015H|AGL_uc001dsn.1_Missense_Mutation_p.Q1014H	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1031	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCTTTGTTCAGAATGGTTCAA	0.348		NaN											0	0	0	1	0	9	47				
SLC35A3	23443	broad.mit.edu	37	1	100464840	100464840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100464840C>G	uc001dsp.1	+	3	408	c.211C>G	c.(211-213)CGA>GGA	p.R71G	SLC35A3_uc001dsq.1_Missense_Mutation_p.R71G|SLC35A3_uc009wdy.1_Missense_Mutation_p.R71G|SLC35A3_uc001dsr.1_Missense_Mutation_p.R113G|SLC35A3_uc001dss.1_Translation_Start_Site	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	71					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGCACTGAATCGAGTACTACA	0.239		NaN											0	0	0	1	0	14	25				
GPR88	54112	broad.mit.edu	37	1	101004970	101004970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:101004970C>G	uc001dth.2	+	2	852	c.448C>G	c.(448-450)CAG>GAG	p.Q150E		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	150	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CGCCACCTACCAGGCGCTGTA	0.741		NaN											0	0	0	1	0	3	17				
WDR47	22911	broad.mit.edu	37	1	109517317	109517317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109517317C>T	uc001dwj.2	-	14	2834	c.2458G>A	c.(2458-2460)GAA>AAA	p.E820K	WDR47_uc001dwl.2_Missense_Mutation_p.E828K|WDR47_uc001dwi.2_Missense_Mutation_p.E821K|WDR47_uc010ovf.1_Missense_Mutation_p.E745K	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	820	WD 5.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAATCTTCTTGACCTGTG	0.438		NaN											0	0	0	1	0	7	19				
CELSR2	1952	broad.mit.edu	37	1	109794764	109794764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109794764C>T	uc001dxa.3	+	1	2124	c.2063C>T	c.(2062-2064)TCC>TTC	p.S688F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	688	Cadherin 5.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTACCGCCTCCGATGGCACT	0.557		NaN											0	0	0	1	0	40	65				
SORT1	6272	broad.mit.edu	37	1	109865577	109865577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109865577G>C	uc001dxm.1	-	15	2050	c.2001C>G	c.(1999-2001)CTC>CTG	p.L667L	SORT1_uc010ovi.1_Silent_p.L530L	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	667	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAGGGAACAGAGGCAGATGG	0.488		NaN											0	0	0	1	0	11	43				
C1orf103	55791	broad.mit.edu	37	1	111492647	111492647	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111492647C>T	uc001eaa.2	-	3	1951	c.1695G>A	c.(1693-1695)AAG>AAA	p.K565K	C1orf103_uc001dzz.2_Silent_p.K29K|C1orf103_uc001eab.2_Silent_p.K29K|C1orf103_uc001eac.1_Silent_p.K29K	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		CAGCATCACTCTTCAGATGTA	0.383		NaN											0	0	0	1	0	16	61				
DENND2D	79961	broad.mit.edu	37	1	111734819	111734819	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111734819G>A	uc001eak.1	-	8	1115	c.915C>T	c.(913-915)TTC>TTT	p.F305F	DENND2D_uc001eal.1_Silent_p.F302F	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	305	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTCCAACCATGAAGGGGGTGG	0.473		NaN											0	0	0	1	0	17	52				
MOV10	4343	broad.mit.edu	37	1	113241408	113241408	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113241408G>C	uc001eck.2	+	17	2850	c.2580G>C	c.(2578-2580)TTG>TTC	p.L860F	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.L860F|MOV10_uc001ecm.2_Missense_Mutation_p.L800F	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	860					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCAAGGACTTGAAGGTGACAT	0.557		NaN											0	0	0	1	0	52	166				
MOV10	4343	broad.mit.edu	37	1	113242322	113242322	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242322G>A	uc001eck.2	+	18	2869	c.2599G>A	c.(2599-2601)GAA>AAA	p.E867K	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E867K|MOV10_uc001ecm.2_Missense_Mutation_p.E807K	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	867					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCAGTAGAAGAATTCCAAGG	0.453		NaN											0	0	0	1	0	36	142				
MOV10	4343	broad.mit.edu	37	1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242368G>A	uc001eck.2	+	18	2915	c.2645G>A	c.(2644-2646)CGA>CAA	p.R882Q	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R882Q|MOV10_uc001ecm.2_Missense_Mutation_p.R822Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552		NaN											0	0	0	1	0	54	171				
MAGI3	260425	broad.mit.edu	37	1	114189165	114189165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114189165C>T	uc001edk.2	+	12	2237	c.2056C>T	c.(2056-2058)CAG>TAG	p.Q686*	MAGI3_uc001edh.3_Nonsense_Mutation_p.Q711*|MAGI3_uc001edi.3_Nonsense_Mutation_p.Q686*|MAGI3_uc010owm.1_Nonsense_Mutation_p.Q711*|MAGI3_uc001edj.2_Nonsense_Mutation_p.Q407*	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	711					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTATTCCTCAGCCTATGCC	0.383		NaN											0	0	0	1	0	8	45				
MAGI3	260425	broad.mit.edu	37	1	114226163	114226163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114226163G>A	uc001edk.2	+	21	4154	c.3973G>A	c.(3973-3975)GAG>AAG	p.E1325K	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1350					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATGCTGAGCAGATCCC	0.423		NaN											0	0	0	1	0	18	52				
TRIM33	51592	broad.mit.edu	37	1	114976330	114976330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114976330G>C	uc001eew.2	-	5	1033	c.949C>G	c.(949-951)CAA>GAA	p.Q317E	TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.Q317E	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	317	Necessary for oligomerization.|Potential.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGATTTTGAAAAGCTTCT	0.313		NaN	T	RET	papillary thyroid								0	0	0	1	0	11	26				
CD58	965	broad.mit.edu	37	1	117078795	117078795	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117078795G>C	uc001egm.2	-	3	541	c.420C>G	c.(418-420)GTC>GTG	p.V140V	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.V140V|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.V140V	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	140	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCATGCATTGGACTTCAATGC	0.358		NaN											0	0	0	1	0	11	29				
IGSF3	3321	broad.mit.edu	37	1	117142914	117142914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117142914C>T	uc001egr.1	-	7	2383	c.1678G>A	c.(1678-1680)GAC>AAC	p.D560N	IGSF3_uc001egq.1_Missense_Mutation_p.D580N|IGSF3_uc001egs.1_Missense_Mutation_p.D233N	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	560	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCAAAGGAGTCGCTGTAGGTC	0.587		NaN											0	0	0	1	0	16	38				
PTGFRN	5738	broad.mit.edu	37	1	117509931	117509931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117509931G>C	uc001egv.1	+	6	2175	c.2038G>C	c.(2038-2040)GAG>CAG	p.E680Q		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	680	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAATCCTATTGAGATAGACTT	0.522		NaN											0	0	0	1	0	21	69				
SPAG17	200162	broad.mit.edu	37	1	118535110	118535110	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:118535110C>G	uc001ehk.2	-	36	5408	c.5340G>C	c.(5338-5340)CTG>CTC	p.L1780L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1780						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCCTCAGTTTCACCT	0.463		NaN											0	0	0	1	0	24	69				
ADAM30	11085	broad.mit.edu	37	1	120436660	120436660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:120436660C>T	uc001eij.2	-	1	2454	c.2300G>A	c.(2299-2301)GGA>GAA	p.G767E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	767	4.|Cytoplasmic (Potential).|5 X 9 AA approximate repeats.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTTCCTGTCCAGTTTTTGC	0.358		NaN											0	0	0	1	0	54	190				
PDE4DIP	9659	broad.mit.edu	37	1	144876029	144876029	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:144876029C>G	uc001elw.3	-	29	4943	c.4652_splice	c.e29-1	p.K1551_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K1507_splice|PDE4DIP_uc001elv.3_Splice_Site_p.K558_splice	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTATGATCCTCTGTAAACCAA	0.458		NaN	T	PDGFRB	MPD								0	0	0	1	0	37	288				
NOTCH2NL	388677	broad.mit.edu	37	1	145273377	145273377	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:145273377G>C	uc001emn.3	+	3	601	c.231G>C	c.(229-231)CTG>CTC	p.L77L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L77L|NOTCH2NL_uc001emo.2_Silent_p.L77L|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	77	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						GACCTTGCCTGAATGGCGGCA	0.532		NaN											0	0	0	1	0	40	574				
BCL9	607	broad.mit.edu	37	1	147091378	147091378	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091378C>T	uc001epq.2	+	8	2157	c.1417C>T	c.(1417-1419)CTG>TTG	p.L473L	BCL9_uc010ozr.1_Silent_p.L399L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	473	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GATAGCGTGGCTGAAACTGCA	0.517		NaN	T	IGH@|IGL@	B-ALL								0	0	0	1	0	34	84				
BCL9	607	broad.mit.edu	37	1	147091483	147091483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091483C>T	uc001epq.2	+	8	2262	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	BCL9_uc010ozr.1_Missense_Mutation_p.R434W	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	508	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GCACGGGCCTCGGGGAGTGGT	0.567		NaN	T	IGH@|IGL@	B-ALL								0	0	0	1	0	36	152				
HORMAD1	84072	broad.mit.edu	37	1	150679155	150679155	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150679155C>G	uc001evk.1	-	10	784	c.678G>C	c.(676-678)GTG>GTC	p.V226V	HORMAD1_uc001evl.1_Silent_p.V219V|HORMAD1_uc001evm.1_Silent_p.V146V	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	226	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAGTGGTCACTTTTACTT	0.348		NaN											0	0	0	1	0	19	82				
ANXA9	8416	broad.mit.edu	37	1	150956496	150956496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150956496G>C	uc001ewa.2	+	5	688	c.218G>C	c.(217-219)AGA>ACA	p.R73T		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	73	Annexin 1.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCGGAGCAGAGAGCAAAGG	0.587		NaN											0	0	0	1	0	4	27				
SEMA6C	10500	broad.mit.edu	37	1	151107335	151107335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151107335G>C	uc001ewu.2	-	16	1897	c.1597C>G	c.(1597-1599)CAG>GAG	p.Q533E	SEMA6C_uc001ewv.2_Missense_Mutation_p.Q533E|SEMA6C_uc001eww.2_Missense_Mutation_p.Q493E|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q533E	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	533	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGGGTCCTGAGAAGCCAAA	0.522		NaN											0	0	0	1	0	18	65				
SEMA6C	10500	broad.mit.edu	37	1	151108595	151108595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108595G>A	uc001ewu.2	-	13	1451	c.1151C>T	c.(1150-1152)TCT>TTT	p.S384F	SEMA6C_uc001ewv.2_Missense_Mutation_p.S384F|SEMA6C_uc001eww.2_Missense_Mutation_p.S344F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S384F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	384	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTCGGGAAGAGGAGAACAA	0.592		NaN											0	0	0	1	0	13	77				
SEMA6C	10500	broad.mit.edu	37	1	151108598	151108598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108598G>A	uc001ewu.2	-	13	1448	c.1148C>T	c.(1147-1149)TCC>TTC	p.S383F	SEMA6C_uc001ewv.2_Missense_Mutation_p.S383F|SEMA6C_uc001eww.2_Missense_Mutation_p.S343F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S383F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	383	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGAAGAGGAGAACAAGGC	0.592		NaN											0	0	0	1	0	11	77				
POGZ	23126	broad.mit.edu	37	1	151378586	151378586	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151378586C>T	uc001eyd.1	-	19	3231	c.2925G>A	c.(2923-2925)GTG>GTA	p.V975V	POGZ_uc001eye.1_Silent_p.V922V|POGZ_uc010pdb.1_Silent_p.V966V|POGZ_uc001eyf.1_Silent_p.V931V|POGZ_uc010pdc.1_Silent_p.V913V|POGZ_uc009wmv.1_Silent_p.V880V|POGZ_uc010pdd.1_Silent_p.V466V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	975					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTTCTTCACAGACAGCT	0.517		NaN											0	0	0	1	0	35	112				
CGN	57530	broad.mit.edu	37	1	151492649	151492649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151492649C>G	uc009wmw.2	+	3	1025	c.881C>G	c.(880-882)TCA>TGA	p.S294*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	288	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTTCAAATCAACTCCAGAC	0.438		NaN											0	0	0	1	0	9	41				
TCHH	7062	broad.mit.edu	37	1	152085023	152085023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152085023C>T	uc001ezp.2	-	2	670	c.670G>A	c.(670-672)GAG>AAG	p.E224K	TCHH_uc009wne.1_Missense_Mutation_p.E224K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	224					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTTCTCCTCGCGGCCCTTC	0.572		NaN											0	0	0	1	0	68	229				
RPTN	126638	broad.mit.edu	37	1	152128074	152128074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152128074G>A	uc001ezs.1	-	3	1566	c.1501C>T	c.(1501-1503)CAG>TAG	p.Q501*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	501	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						CCGTCTGGCTGACCATAATGA	0.507		NaN											0	0	0	1	0	204	672				
HRNR	388697	broad.mit.edu	37	1	152187713	152187713	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152187713G>T	uc001ezt.1	-	3	6468	c.6392C>A	c.(6391-6393)TCT>TAT	p.S2131Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2131					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTAGCCAGAGGAGTGACC	0.567		NaN											1	0	1.36615e-20	1	1.45282e-20	19	531				
FLG	2312	broad.mit.edu	37	1	152283449	152283449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152283449C>T	uc001ezu.1	-	3	3949	c.3913G>A	c.(3913-3915)GGC>AGC	p.G1305S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1305	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgtctggagccatctcttgac	0.378		NaN							Ichthyosis				0	0	0	1	0	82	258				
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:154956263C>G	uc001fgf.1	+	1	447	c.93C>G	c.(91-93)CTC>CTG	p.L31L	FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Silent_p.L31L|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	31					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552		NaN											0	0	0	1	0	36	101				
DCST2	127579	broad.mit.edu	37	1	155001832	155001832	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155001832G>A	uc001fgm.2	-	8	1299	c.1219C>T	c.(1219-1221)CTG>TTG	p.L407L	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	407	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGTCTCCAGAATGTAAAAA	0.547		NaN											0	0	0	1	0	35	102				
ASH1L	55870	broad.mit.edu	37	1	155319120	155319120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155319120C>T	uc009wqq.2	-	19	8047	c.7567G>A	c.(7567-7569)GAG>AAG	p.E2523K	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2518K|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2523	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAATACCTCAGCATTCCGA	0.378		NaN											0	0	0	1	0	15	44				
SEMA4A	64218	broad.mit.edu	37	1	156146338	156146338	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146338G>A	uc001fnl.2	+	15	1940	c.1836G>A	c.(1834-1836)CTG>CTA	p.L612L	SEMA4A_uc009wrq.2_Silent_p.L612L|SEMA4A_uc001fnm.2_Silent_p.L612L|SEMA4A_uc001fnn.2_Silent_p.L480L|SEMA4A_uc001fno.2_Silent_p.L612L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	612	Extracellular (Potential).|Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCTCTTGCTGATAGTGCAGG	0.557		NaN											0	0	0	1	0	30	76				
SEMA4A	64218	broad.mit.edu	37	1	156146608	156146608	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146608C>T	uc001fnl.2	+	15	2210	c.2106C>T	c.(2104-2106)CTC>CTT	p.L702L	SEMA4A_uc009wrq.2_Silent_p.L702L|SEMA4A_uc001fnm.2_Silent_p.L702L|SEMA4A_uc001fnn.2_Silent_p.L570L|SEMA4A_uc001fno.2_Silent_p.L702L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	702	Helical; (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TCATCATCCTCGTGGCCTCCC	0.632		NaN											0	0	0	1	0	19	87				
SMG5	23381	broad.mit.edu	37	1	156247731	156247731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156247731G>A	uc001foc.3	-	3	431	c.282C>T	c.(280-282)ATC>ATT	p.I94I		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	94					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TGTTAGTCTTGATAAGCTGGA	0.478		NaN											0	0	0	1	0	65	223				
C1orf182	128229	broad.mit.edu	37	1	156316677	156316677	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156316677G>A	uc001foo.2	+	4	644	c.282G>A	c.(280-282)GTG>GTA	p.V94V	C1orf182_uc009wry.2_Silent_p.V94V|C1orf182_uc001fop.3_Silent_p.V94V	NM_144627	NP_653228	Q96A04	CA182_HUMAN	SSTK-interacting protein	94											0	Hepatocellular(266;0.158)					AGGCATCTGTGACACAACTGG	0.468		NaN											0	0	0	1	0	32	102				
APOA1BP	128240	broad.mit.edu	37	1	156562243	156562243	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562243C>T	uc001fph.2	+	3	417	c.378C>T	c.(376-378)GTC>GTT	p.V126V	APOA1BP_uc001fpg.2_Silent_p.V126V|APOA1BP_uc001fpi.2_Silent_p.V126V|APOA1BP_uc001fpj.2_Silent_p.V43V|APOA1BP_uc001fpk.2_Silent_p.V23V|APOA1BP_uc010php.1_Silent_p.V23V	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	126	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTCTGGTCTGTGCTCGAC	0.582		NaN											0	0	0	1	0	34	122				
APOA1BP	128240	broad.mit.edu	37	1	156562250	156562250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562250C>G	uc001fph.2	+	3	424	c.385C>G	c.(385-387)CGA>GGA	p.R129G	APOA1BP_uc001fpg.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpi.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpj.2_Missense_Mutation_p.R46G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R26G|APOA1BP_uc010php.1_Missense_Mutation_p.R26G	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	129	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTGTGCTCGACACCTCAA	0.587		NaN											0	0	0	1	0	30	126				
FCRL1	115350	broad.mit.edu	37	1	157776905	157776905	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:157776905G>A	uc001frg.2	-	2	152	c.39C>T	c.(37-39)CTC>CTT	p.L13L	FCRL1_uc001frh.2_Silent_p.L13L|FCRL1_uc001fri.2_Silent_p.L13L|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	13						integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGTTCACAGAGTGGAGCTG	0.478		NaN											0	0	0	1	0	15	45				
KIRREL	55243	broad.mit.edu	37	1	158061274	158061274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158061274C>T	uc001frn.3	+	11	1803	c.1399C>T	c.(1399-1401)CAG>TAG	p.Q467*	KIRREL_uc010pib.1_Nonsense_Mutation_p.Q367*|KIRREL_uc009wsq.2_Nonsense_Mutation_p.Q303*|KIRREL_uc001fro.3_Nonsense_Mutation_p.Q281*	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	467	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GGCCGACTTTCAGACTCACTA	0.592		NaN											0	0	0	1	0	39	113				
SPTA1	6708	broad.mit.edu	37	1	158582706	158582706	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158582706G>C	uc001fst.1	-	51	7234	c.7035C>G	c.(7033-7035)GAC>GAG	p.D2345E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2345	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGACTCCTTGTCAATCAGGA	0.478		NaN											0	0	0	1	0	10	44				
NCSTN	23385	broad.mit.edu	37	1	160323984	160323984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:160323984C>T	uc001fvx.2	+	11	1380	c.1256C>T	c.(1255-1257)TCC>TTC	p.S419F	NCSTN_uc001fvy.2_Missense_Mutation_p.S399F|NCSTN_uc010pjf.1_Missense_Mutation_p.S281F|NCSTN_uc001fvz.2_Missense_Mutation_p.S199F|NCSTN_uc010pjg.1_Missense_Mutation_p.S161F	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	419	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAATCAGTCCCAGCCTCTC	0.552		NaN											0	0	0	1	0	26	95				
PFDN2	5202	broad.mit.edu	37	1	161071873	161071873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161071873C>G	uc001fxu.2	-	3	303	c.253G>C	c.(253-255)GAG>CAG	p.E85Q		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	85					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGCACCTCTTTGACAGTT	0.403		NaN											0	0	0	1	0	19	49				
PPOX	5498	broad.mit.edu	37	1	161137269	161137269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161137269G>T	uc001fyj.2	+	4	621	c.331G>T	c.(331-333)GGC>TGC	p.G111C	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.G111C|PPOX_uc001fyl.2_Missense_Mutation_p.G77C|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTACCCACTGGCCTCAGGTA	0.502		NaN							Porphyria_Variegata				1	0	0.000157383	1	0.000159646	8	44				
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161753803C>T	uc001gbr.2	+	4	338	c.271C>T	c.(271-273)CAG>TAG	p.Q91*	ATF6_uc001gbq.1_Nonsense_Mutation_p.Q91*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	91	Cytoplasmic (Potential).|Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398		NaN											0	0	0	1	0	24	110				
NOS1AP	9722	broad.mit.edu	37	1	162337072	162337072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162337072G>C	uc001gbv.2	+	10	1723	c.1336G>C	c.(1336-1338)GAG>CAG	p.E446Q	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E441Q|NOS1AP_uc009wut.1_Missense_Mutation_p.E151Q	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	446					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCGCAGGGCGAGGCGCTCCT	0.667		NaN											0	0	0	1	0	17	56				
UHMK1	127933	broad.mit.edu	37	1	162482610	162482610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162482610G>A	uc001gcc.1	+	6	1157	c.1021G>A	c.(1021-1023)GAA>AAA	p.E341K	UHMK1_uc001gcb.1_Missense_Mutation_p.E267K|UHMK1_uc009wuu.1_Missense_Mutation_p.E341K	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	341	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGAGGAATATGAAGGTTAGTG	0.328		NaN											0	0	0	1	0	35	81				
PBX1	5087	broad.mit.edu	37	1	164769035	164769035	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:164769035A>C	uc001gct.2	+	4	868	c.610A>C	c.(610-612)ATC>CTC	p.I204L	PBX1_uc010pku.1_Missense_Mutation_p.I204L|PBX1_uc010pkv.1_Missense_Mutation_p.I121L|PBX1_uc001gcs.2_Missense_Mutation_p.I204L|PBX1_uc010pkw.1_Missense_Mutation_p.I94L	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	204					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						GGTCAGCATCATCCACCGCAA	0.587		NaN	T	TCF3|EWSR1	pre B-ALL|myoepithelioma								0	0	0	1	0	15	52				
CD247	919	broad.mit.edu	37	1	167409970	167409970	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:167409970G>T	uc001gei.3	-	2	238	c.93C>A	c.(91-93)CTC>CTA	p.L31L	CD247_uc001gej.3_Silent_p.L31L|CD247_uc001gek.2_Silent_p.L31L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	31	Helical; (Potential).				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GCAGGTAGCAGAGTTTGGGAT	0.547		NaN											1	0	1	1	1	8	31				
F5	2153	broad.mit.edu	37	1	169528466	169528466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:169528466C>G	uc001ggg.1	-	5	800	c.655G>C	c.(655-657)GAT>CAT	p.D219H	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	219	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGCTTTCATCAAACACAGCA	0.453		NaN											0	0	0	1	0	20	74				
C1orf9	51430	broad.mit.edu	37	1	172560143	172560143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:172560143G>C	uc001giq.3	+	19	3161	c.2845G>C	c.(2845-2847)GAA>CAA	p.E949Q	C1orf9_uc010pmm.1_Missense_Mutation_p.E949Q|C1orf9_uc009wwd.2_Missense_Mutation_p.E905Q|C1orf9_uc010pmn.1_Missense_Mutation_p.E578Q|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	949	Potential.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACAAATGGAAGAAATGCAAAA	0.318		NaN											0	0	0	1	0	13	48				
ASTN1	460	broad.mit.edu	37	1	176998854	176998854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:176998854C>A	uc001glc.2	-	5	1248	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	ASTN1_uc001glb.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E346*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	346					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GAATCCCCTTCAGGGTTCAAG	0.493		NaN											1	0	0.00829132	1	0.00836045	11	19				
NPHS2	7827	broad.mit.edu	37	1	179526245	179526245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526245G>A	uc001gmq.3	-	5	740	c.655C>T	c.(655-657)CAA>TAA	p.Q219*	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	219	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						ATAGTGGTTTGCACAAGGAAT	0.423		NaN											0	0	0	1	0	8	41				
NPHS2	7827	broad.mit.edu	37	1	179526363	179526363	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526363G>A	uc001gmq.3	-	5	622	c.537C>T	c.(535-537)ATC>ATT	p.I179I	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	179	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						CTTTGGTCACGATCTAGGCAG	0.413		NaN											0	0	0	1	0	12	39				
C1orf26	54823	broad.mit.edu	37	1	185143554	185143554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:185143554C>T	uc001grg.3	+	5	389	c.275C>T	c.(274-276)TCA>TTA	p.S92L	C1orf26_uc001grh.3_Missense_Mutation_p.S92L	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	92											0						ATCGGTTCTTCATCCCAAAGA	0.313		NaN											0	0	0	1	0	3	17				
TPR	7175	broad.mit.edu	37	1	186320521	186320521	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:186320521G>C	uc001grv.2	-	20	2848	c.2551C>G	c.(2551-2553)CTA>GTA	p.L851V		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	851	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTTCTTTAGATGAGAGATC	0.378		NaN	T	NTRK1	papillary thyroid								0	0	0	1	0	13	48				
ZNF281	23528	broad.mit.edu	37	1	200377314	200377314	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200377314G>C	uc001gve.2	-	2	1627	c.1520C>G	c.(1519-1521)TCA>TGA	p.S507*	ZNF281_uc001gvf.1_Nonsense_Mutation_p.S507*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.S471*	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	507					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						ACTATTATTTGATACTATGCC	0.373		NaN											0	0	0	1	0	26	44				
C1orf106	55765	broad.mit.edu	37	1	200880791	200880791	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200880791C>T	uc001gvo.2	+	9	1455	c.1425C>T	c.(1423-1425)CCC>CCT	p.P475P	C1orf106_uc010ppm.1_Silent_p.P390P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	475										skin(2)|ovary(1)	3						GCAGCAGCCCCGACATCTCCT	0.692		NaN											0	0	0	1	0	76	180				
CACNA1S	779	broad.mit.edu	37	1	201017798	201017798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201017798C>T	uc001gvv.2	-	36	4580	c.4353G>A	c.(4351-4353)ATG>ATA	p.M1451I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1451	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGGCATGTTCATGCCCACCA	0.617		NaN											0	0	0	1	0	10	34				
CACNA1S	779	broad.mit.edu	37	1	201019552	201019552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201019552G>C	uc001gvv.2	-	34	4433	c.4206C>G	c.(4204-4206)TTC>TTG	p.F1402L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1402	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCTTGAACTCATCCA	0.547		NaN											0	0	0	1	0	25	52				
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201079390C>G	uc001gvv.2	-	2	387	c.160G>C	c.(160-162)GAG>CAG	p.E54Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	54	I.|Helical; Name=S1 of repeat I; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577		NaN											0	0	0	1	0	26	70				
GPR37L1	9283	broad.mit.edu	37	1	202092471	202092471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:202092471C>G	uc001gxj.2	+	1	443	c.380C>G	c.(379-381)TCC>TGC	p.S127C		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	127	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						ACCGAGAGCTCCTACAGTGCC	0.597		NaN											0	0	0	1	0	22	67				
BTG2	7832	broad.mit.edu	37	1	203274737	203274737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203274737G>A	uc001gzq.2	+	1	74	c.3G>A	c.(1-3)ATG>ATA	p.M1I	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	1					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.M1I(1)		ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			CGCGCGACATGAGCCACGGGA	0.697		NaN											0	0	0	1	0	3	10		Valid		
ATP2B4	493	broad.mit.edu	37	1	203667470	203667470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203667470G>A	uc001gzw.2	+	3	1263	c.379G>A	c.(379-381)GAA>AAA	p.E127K	ATP2B4_uc001gzv.2_Missense_Mutation_p.E127K|ATP2B4_uc009xaq.2_Missense_Mutation_p.E127K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	127	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGCTGGTGAAGAAAATGA	0.488		NaN											0	0	0	1	0	27	76				
NUAK2	81788	broad.mit.edu	37	1	205280856	205280856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:205280856G>A	uc001hce.2	-	2	456	c.329C>T	c.(328-330)CCT>CTT	p.P110L	NUAK2_uc009xbj.1_5'Flank	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	110	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AATGATGTGAGGGTGGTTGAG	0.473		NaN											0	0	0	1	0	12	49				
MAPKAPK2	9261	broad.mit.edu	37	1	206904055	206904055	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206904055G>A	uc001hem.1	+	6	1000	c.714G>A	c.(712-714)GAG>GAA	p.E238E	MAPKAPK2_uc001hel.1_Silent_p.E238E	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	238	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGGGTCCAGAGAAGTATGACA	0.572		NaN											0	0	0	1	0	30	80				
IL10	3586	broad.mit.edu	37	1	206944333	206944333	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206944333C>T	uc001hen.1	-	3	356	c.297G>A	c.(295-297)GAG>GAA	p.E99E		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	99					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGTCTTGGTTCTCAGCTTGGG	0.547		NaN											0	0	0	1	0	39	110				
CR2	1380	broad.mit.edu	37	1	207651346	207651346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651346G>T	uc001hfw.2	+	15	2936	c.2842G>T	c.(2842-2844)GAA>TAA	p.E948*	CR2_uc001hfv.2_Nonsense_Mutation_p.E1007*|CR2_uc009xch.2_Nonsense_Mutation_p.E886*	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	948	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GTATATGCTGGAAGGCAGTCC	0.522		NaN											1	0	9.70103e-10	1	1.01257e-09	11	39				
CR2	1380	broad.mit.edu	37	1	207651410	207651410	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651410G>T	uc001hfw.2	+	15	3000	c.2906G>T	c.(2905-2907)AGA>ATA	p.R969I	CR2_uc001hfv.2_Missense_Mutation_p.R1028I|CR2_uc009xch.2_Missense_Mutation_p.R907I	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	969	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCGGTTTGCAGATCCCGTAAG	0.532		NaN											1	0	0.000157383	1	0.000159646	5	31				
CD34	947	broad.mit.edu	37	1	208062850	208062850	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:208062850C>T	uc001hgw.1	-	5	972	c.714G>A	c.(712-714)GTG>GTA	p.V238V	CD34_uc001hgv.1_Silent_p.V80V|CD34_uc001hgx.1_Silent_p.V238V|CD34_uc010psj.1_Silent_p.V103V	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	238	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						ACTGAGGCCTCACCTCAGACT	0.612		NaN											0	0	0	1	0	11	37				
LAMB3	3914	broad.mit.edu	37	1	209805953	209805953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:209805953G>A	uc001hhg.2	-	7	1187	c.797C>T	c.(796-798)TCT>TTT	p.S266F	LAMB3_uc009xco.2_Missense_Mutation_p.S266F|LAMB3_uc001hhh.2_Missense_Mutation_p.S266F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.S202F	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	266	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGGCCTGCAGAGGCCCCAGG	0.652		NaN											0	0	0	1	0	24	53				
SYT14	255928	broad.mit.edu	37	1	210273593	210273593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:210273593G>C	uc009xcv.2	+	6	1023	c.951G>C	c.(949-951)CAG>CAC	p.Q317H	SYT14_uc001hhs.3_Missense_Mutation_p.Q362H|SYT14_uc001hht.3_Missense_Mutation_p.Q317H|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.Q362H|SYT14_uc010pso.1_Missense_Mutation_p.Q279H	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	317	Cytoplasmic (Potential).|C2 1.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAGCATCCAGAGAGGACCAT	0.403		NaN											0	0	0	1	0	14	38				
INTS7	25896	broad.mit.edu	37	1	212180677	212180677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212180677G>C	uc001hiw.1	-	6	776	c.671C>G	c.(670-672)TCC>TGC	p.S224C	INTS7_uc009xdb.1_Missense_Mutation_p.S224C|INTS7_uc001hix.1_Missense_Mutation_p.S100C|INTS7_uc001hiy.1_Missense_Mutation_p.S224C|INTS7_uc010pta.1_Missense_Mutation_p.S175C	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	224					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGACGGATAGGATGTGACCAG	0.433		NaN											0	0	0	1	0	14	45				
DTL	51514	broad.mit.edu	37	1	212274365	212274365	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212274365G>A	uc009xdc.2	+	14	2347	c.2033G>A	c.(2032-2034)CGA>CAA	p.R678Q	DTL_uc010ptb.1_Missense_Mutation_p.R636Q|DTL_uc001hiz.3_Missense_Mutation_p.R407Q	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	678					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCATCTCCACGAAGTCCGTCA	0.488		NaN											0	0	0	1	0	13	53				
RPS6KC1	26750	broad.mit.edu	37	1	213414278	213414278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:213414278G>A	uc010ptr.1	+	11	1618	c.1459G>A	c.(1459-1461)GAA>AAA	p.E487K	RPS6KC1_uc001hkd.2_Missense_Mutation_p.E475K|RPS6KC1_uc010pts.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.E306K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.E22K|RPS6KC1_uc001hke.2_Missense_Mutation_p.E306K	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	487					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCAACCAGGAAGATGATGG	0.413		NaN											0	0	0	1	0	20	71				
GPATCH2	55105	broad.mit.edu	37	1	217784238	217784238	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:217784238G>A	uc001hlf.1	-	4	1107	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	GPATCH2_uc001hlg.3_Silent_p.S337S	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	337						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GACCTCTTCTGCTTGGGTGTG	0.413		NaN											0	0	0	1	0	14	41				
SLC30A10	55532	broad.mit.edu	37	1	220101335	220101335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220101335G>A	uc001hlw.2	-	1	659	c.448C>T	c.(448-450)CGC>TGC	p.R150C	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	150	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGCAGGCGGCGACTGCGTCCC	0.746		NaN											0	0	0	1	0	4	5				
MARK1	4139	broad.mit.edu	37	1	220752866	220752866	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220752866C>T	uc001hmn.3	+	2	819	c.222C>T	c.(220-222)GTC>GTT	p.V74V	MARK1_uc001hml.2_Silent_p.V74V|MARK1_uc009xdw.2_Silent_p.V74V|MARK1_uc010pun.1_Silent_p.V74V|MARK1_uc001hmm.3_Silent_p.V74V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	74	ATP (By similarity).|Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TTGCCAAAGTCAAATTGGCAA	0.413		NaN											0	0	0	1	0	9	58				
DISP1	84976	broad.mit.edu	37	1	223163986	223163986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223163986G>A	uc001hnu.1	+	4	706	c.559G>A	c.(559-561)GAC>AAC	p.D187N		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	187					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CCTGATAGCCGACTGGCCGGT	0.498		NaN											0	0	0	1	0	40	110				
SUSD4	55061	broad.mit.edu	37	1	223536710	223536710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223536710G>A	uc001hnx.2	-	1	692	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	SUSD4_uc001hny.3_Nonsense_Mutation_p.Q20*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.Q20*|SUSD4_uc010pux.1_Nonsense_Mutation_p.Q20*	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	20						integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		GGTtgctgctgctgctgctgc	0.502		NaN											0	0	0	1	0	4	17				
FBXO28	23219	broad.mit.edu	37	1	224345239	224345239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345239G>C	uc001hoh.2	+	5	939	c.898G>C	c.(898-900)GAC>CAC	p.D300H	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.D95H	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	300										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCAAGACCAGGACCAGAAACT	0.473		NaN											0	0	0	1	0	32	158				
FBXO28	23219	broad.mit.edu	37	1	224345339	224345339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345339G>C	uc001hoh.2	+	5	1039	c.998G>C	c.(997-999)GGA>GCA	p.G333A	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.G128A	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	333										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGTGCTGTAGGAAATTCCTCA	0.478		NaN											0	0	0	1	0	28	113				
CDC42BPA	8476	broad.mit.edu	37	1	227204633	227204633	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:227204633C>G	uc001hqr.2	-	32	5572	c.4629G>C	c.(4627-4629)CAG>CAC	p.Q1543H	CDC42BPA_uc001hqq.2_Missense_Mutation_p.Q842H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.Q1462H|CDC42BPA_uc009xes.2_Missense_Mutation_p.Q1515H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.Q1523H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.Q699H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.Q421H	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1556					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTACCTCCTCTGCTGCATCC	0.398		NaN											0	0	0	1	0	15	48				
OBSCN	84033	broad.mit.edu	37	1	228475825	228475825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:228475825C>T	uc009xez.1	+	37	9919	c.9875C>T	c.(9874-9876)ACG>ATG	p.T3292M	OBSCN_uc001hsn.2_Missense_Mutation_p.T3292M|OBSCN_uc001hsq.1_Missense_Mutation_p.T548M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3292	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCACGGCCACGCTGCGGTGT	0.612		NaN											0	0	0	1	0	51	112				
ACTA1	58	broad.mit.edu	37	1	229567842	229567842	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229567842G>T	uc001htm.2	-	5	812	c.707C>A	c.(706-708)TCC>TAC	p.S236Y		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	236					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TTCCAGGGAGGAGGAGGAGGC	0.642		NaN											1	0	1.3612e-06	1	1.40263e-06	14	42				
URB2	9816	broad.mit.edu	37	1	229779297	229779297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229779297C>T	uc001hts.1	+	5	3788	c.3652C>T	c.(3652-3654)CAG>TAG	p.Q1218*	URB2_uc009xfd.1_Nonsense_Mutation_p.Q1218*	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1218						nucleolus				central_nervous_system(2)|ovary(1)	3						AATTCCTGTTCAGGTCACTCA	0.448		NaN											0	0	0	1	0	19	72				
GALNT2	2590	broad.mit.edu	37	1	230314024	230314024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:230314024G>C	uc010pwa.1	+	2	259	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	GALNT2_uc010pvy.1_Missense_Mutation_p.E25Q|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	63	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAATGGAGAAGAGAAAGCACA	0.493		NaN											0	0	0	1	0	9	53				
PCNXL2	80003	broad.mit.edu	37	1	233344284	233344284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:233344284G>A	uc001hvl.2	-	13	3078	c.2843C>T	c.(2842-2844)TCA>TTA	p.S948L	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S247L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	948						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCCCTAGCTGATTGTAGAAA	0.468		NaN											0	0	0	1	0	15	41				
TOMM20	9804	broad.mit.edu	37	1	235277211	235277211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:235277211C>T	uc001hwl.2	-	4	491	c.265G>A	c.(265-267)GGC>AGC	p.G89S	TOMM20_uc009xfx.1_Intron	NM_014765	NP_055580	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20	89	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding				0	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TGGTCTACGCCCTTCTCATAT	0.418		NaN											0	0	0	1	0	24	55				
RYR2	6262	broad.mit.edu	37	1	237619914	237619914	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237619914C>T	uc001hyl.1	+	16	1611	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	497	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATCAACCTCGTGCTTGAGT	0.413		NaN											0	0	0	1	0	12	57				
RYR2	6262	broad.mit.edu	37	1	237872347	237872347	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237872347G>A	uc001hyl.1	+	69	10211	c.10091G>A	c.(10090-10092)AGA>AAA	p.R3364K	RYR2_uc010pxz.1_Missense_Mutation_p.R319K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3364					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTGGCCAGAGATCTCTAT	0.463		NaN											0	0	0	1	0	10	22				
SDCCAG8	10806	broad.mit.edu	37	1	243433447	243433447	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243433447G>A	uc001hzw.2	+	2	264	c.108G>A	c.(106-108)CTG>CTA	p.L36L	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	36					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGTGCCCTGAAAGAAGGCG	0.493		NaN											0	0	0	1	0	8	35				
AKT3	10000	broad.mit.edu	37	1	243727132	243727132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243727132C>G	uc001iab.1	-	9	919	c.838G>C	c.(838-840)GAC>CAC	p.D280H	AKT3_uc001hzz.1_Missense_Mutation_p.D280H	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	280	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCATCTTTGTCCAGCATTAGA	0.348		NaN											0	0	0	1	0	16	51				
KIF26B	55083	broad.mit.edu	37	1	245765916	245765916	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:245765916G>C	uc001ibf.1	+	6	1828	c.1388G>C	c.(1387-1389)CGA>CCA	p.R463P	KIF26B_uc010pyq.1_Missense_Mutation_p.R463P|KIF26B_uc001ibg.1_Missense_Mutation_p.R81P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	463	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTTGGCTCGAGATACTTCA	0.488		NaN											0	0	0	1	0	10	25				
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:248085113C>G	uc010pzc.1	+	1	794	c.794C>G	c.(793-795)TCC>TGC	p.S265C		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493		NaN											0	0	0	1	0	22	64				
SH3BP5L	80851	broad.mit.edu	37	1	249106497	249106497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:249106497G>A	uc001iew.1	-	7	1336	c.784C>T	c.(784-786)CGT>TGT	p.R262C	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R155C|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R230C|SH3BP5L_uc001iev.1_Missense_Mutation_p.R143C	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGGTTACGAAGGGCCACG	0.682		NaN											0	0	0	1	0	15	55				
LARP4B	23185	broad.mit.edu	37	10	860896	860896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:860896G>A	uc001ifs.1	-	15	1851	c.1810C>T	c.(1810-1812)CAT>TAT	p.H604Y		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	604							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						TCGGGTAAATGAGCTGGGGAG	0.532		NaN											0	0	0	1	0	20	66				
PITRM1	10531	broad.mit.edu	37	10	3206032	3206032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:3206032G>A	uc010qah.1	-	6	612	c.580C>T	c.(580-582)CTT>TTT	p.L194F	PITRM1_uc001igr.1_Missense_Mutation_p.L226F|PITRM1_uc001igt.1_Missense_Mutation_p.L226F|PITRM1_uc001igu.1_Missense_Mutation_p.L218F|PITRM1_uc010qai.1_Missense_Mutation_p.L197F|PITRM1_uc001igw.1_Missense_Mutation_p.L226F|uc001igx.1_5'Flank			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	194					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TGGTCAGGAAGAAGTCTGTTC	0.438		NaN											0	0	0	1	0	25	70				
NET1	10276	broad.mit.edu	37	10	5498204	5498204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5498204C>G	uc001iia.2	+	11	1490	c.1352C>G	c.(1351-1353)TCC>TGC	p.S451C	NET1_uc010qar.1_Missense_Mutation_p.S270C|NET1_uc001iib.2_Missense_Mutation_p.S397C|NET1_uc010qas.1_Missense_Mutation_p.S270C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	451	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						ATGGGAGGCTCCTTTCGAGGA	0.458		NaN											0	0	0	1	0	13	47				
C10orf18	54906	broad.mit.edu	37	10	5772507	5772507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5772507C>G	uc001iij.2	+	11	1170	c.545C>G	c.(544-546)TCT>TGT	p.S182C	C10orf18_uc001iik.2_5'Flank	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	182										ovary(1)|central_nervous_system(1)	2						CCTATTTTATCTACCCTTAAT	0.333		NaN											0	0	0	1	0	15	43				
UPF2	26019	broad.mit.edu	37	10	12043687	12043687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:12043687G>C	uc001ila.2	-	5	2116	c.1642C>G	c.(1642-1644)CTT>GTT	p.L548V	UPF2_uc001ilb.2_Missense_Mutation_p.L548V|UPF2_uc001ilc.2_Missense_Mutation_p.L548V|UPF2_uc009xiz.1_Missense_Mutation_p.L548V	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	548	Potential.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TGTTCATCAAGAAGTTTCTTT	0.333		NaN											0	0	0	1	0	3	26				
BEND7	222389	broad.mit.edu	37	10	13494604	13494604	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:13494604C>G	uc001imm.2	-	7	1259	c.962G>C	c.(961-963)AGA>ACA	p.R321T	BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.R82T|BEND7_uc001imo.3_Missense_Mutation_p.R334T	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	373	BEN.						protein binding			ovary(1)|breast(1)	2						TACCCAATCTCTTGGGCCAGG	0.363		NaN											0	0	0	1	0	21	70				
VIM	7431	broad.mit.edu	37	10	17271570	17271570	+	Missense_Mutation	SNP	G	G	A	rs11545553		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:17271570G>A	uc001iou.2	+	2	562	c.149G>A	c.(148-150)CGC>CAC	p.R50H	uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.R50H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R50H|VIM_uc001ioy.1_Missense_Mutation_p.R50H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R50H|VIM_uc001ipc.1_Missense_Mutation_p.R50H	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	50	Head.			Missing (in Ref. 5; BAB71275).	cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCACCAGCCGCAGCCTCTAC	0.756		NaN											0	0	0	1	0	9	22				
ANKRD26	22852	broad.mit.edu	37	10	27294520	27294520	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27294520C>G	uc001ith.2	-	34	5301	c.5129G>C	c.(5128-5130)TGA>TCA	p.*1710S	ANKRD26_uc001itg.2_Nonstop_Mutation_p.*1397S|ANKRD26_uc009xku.1_Nonstop_Mutation_p.*1711S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1710						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TCTTATCTTTCAGATCATATA	0.279		NaN											0	0	0	1	0	17	55				
YME1L1	10730	broad.mit.edu	37	10	27403470	27403470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27403470C>G	uc001iti.2	-	19	2340	c.2158G>C	c.(2158-2160)GAA>CAA	p.E720Q	YME1L1_uc001itj.2_Missense_Mutation_p.E663Q|YME1L1_uc010qdl.1_Missense_Mutation_p.E630Q|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	720					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATTCTTATTTCTTGTTCGATG	0.328		NaN											0	0	0	1	0	10	39				
MASTL	84930	broad.mit.edu	37	10	27458964	27458964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27458964G>A	uc001itm.2	+	8	1715	c.1076G>A	c.(1075-1077)GGT>GAT	p.G359D	MASTL_uc001itl.2_Missense_Mutation_p.G359D|MASTL_uc009xkw.1_Missense_Mutation_p.G359D|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	359	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GAGACGAAAGGTTTCAATAAA	0.433		NaN											0	0	0	1	0	18	73				
MKX	283078	broad.mit.edu	37	10	28032180	28032180	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:28032180G>C	uc001ity.3	-	2	390	c.165C>G	c.(163-165)CTC>CTG	p.L55L	MKX_uc001itx.3_Silent_p.L55L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	55					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTCTCAGGCCGAGGTTGTCCT	0.746		NaN											0	0	0	1	0	4	22				
SVIL	6840	broad.mit.edu	37	10	29754631	29754631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:29754631G>A	uc001iut.1	-	34	6779	c.6026C>T	c.(6025-6027)TCC>TTC	p.S2009F	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S923F|SVIL_uc001iuu.1_Missense_Mutation_p.S1583F	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2009					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ATCCCCAGAGGAGCTGCTGAG	0.483		NaN											0	0	0	1	0	6	44				
EPC1	80314	broad.mit.edu	37	10	32575725	32575725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:32575725C>T	uc001iwg.1	-	9	1558	c.1288G>A	c.(1288-1290)GAT>AAT	p.D430N	EPC1_uc001iwi.3_Missense_Mutation_p.D380N|EPC1_uc009xlt.2_Missense_Mutation_p.D380N|EPC1_uc001iwh.1_Missense_Mutation_p.D430N	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	430					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				AATCCTCCATCTTTAGGACTA	0.418		NaN											0	0	0	1	0	9	37				
RET	5979	broad.mit.edu	37	10	43615571	43615571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:43615571G>A	uc001jal.2	+	15	2840	c.2650G>A	c.(2650-2652)GAG>AAG	p.E884K	RET_uc001jak.1_Missense_Mutation_p.E884K|RET_uc010qez.1_Missense_Mutation_p.E630K	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	884	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.E884K(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTGGTAGCTGAGGGGCGGAA	0.562		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	1	0	12	35				
C10orf128	170371	broad.mit.edu	37	10	50374939	50374939	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50374939C>G	uc001jhn.3	-	3	239	c.213G>C	c.(211-213)CTG>CTC	p.L71L	C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Silent_p.L71L|C10orf128_uc010qgo.1_Silent_p.L71L|C10orf128_uc001jho.3_Silent_p.L71L	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371 precursor	71	Cytoplasmic (Potential).					integral to membrane				lung(1)	1						GCGTGCTTTTCAGGTCGGAAG	0.612		NaN											0	0	0	1	0	28	80				
ERCC6	2074	broad.mit.edu	37	10	50678885	50678885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50678885G>A	uc001jhs.3	-	18	3275	c.3121C>T	c.(3121-3123)CAA>TAA	p.Q1041*	ERCC6_uc009xod.2_Nonsense_Mutation_p.Q201*|ERCC6_uc010qgr.1_Nonsense_Mutation_p.Q411*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.Q409*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1041	Nuclear localization signal (Potential).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AAGGCTGGTTGAATCCTTCTT	0.393		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	24	89				
CHAT	1103	broad.mit.edu	37	10	50857645	50857645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50857645C>G	uc001jhz.2	+	10	1627	c.1474C>G	c.(1474-1476)CAA>GAA	p.Q492E	CHAT_uc001jhv.1_Missense_Mutation_p.Q374E|CHAT_uc001jhx.1_Missense_Mutation_p.Q374E|CHAT_uc001jhy.1_Missense_Mutation_p.Q374E|CHAT_uc001jia.2_Missense_Mutation_p.Q374E|CHAT_uc010qgs.1_Missense_Mutation_p.Q374E	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	492					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCGGAAATTCAAGGCCACTT	0.617		NaN											0	0	0	1	0	22	98				
AGAP6	414189	broad.mit.edu	37	10	51768909	51768909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51768909G>T	uc001jix.3	+	8	1422	c.1024G>T	c.(1024-1026)GGA>TGA	p.G342*		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	342					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						CAAAGTCCCAGGAAAGTGGCC	0.463		NaN											1	0	7.57603e-17	1	8.02642e-17	35	141				
AGAP6	414189	broad.mit.edu	37	10	51769497	51769497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51769497G>A	uc001jix.3	+	8	2010	c.1612G>A	c.(1612-1614)GAC>AAC	p.D538N		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	538					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						TATTGTCAATGACCTAGCCAA	0.537		NaN											0	0	0	1	0	63	192				
CSTF2T	23283	broad.mit.edu	37	10	53459127	53459127	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:53459127G>T	uc001jjp.2	-	1	229	c.183C>A	c.(181-183)TTC>TTA	p.F61L	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	61	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTATTCGCAGAAGCCATAGC	0.547		NaN											1	0	6.23363e-37	1	6.6668e-37	51	189				
ANK3	288	broad.mit.edu	37	10	61815494	61815494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:61815494C>T	uc001jky.2	-	42	13179	c.12987G>A	c.(12985-12987)ATG>ATA	p.M4329I	ANK3_uc001jkw.2_Missense_Mutation_p.M953I|ANK3_uc009xpa.2_Missense_Mutation_p.M953I|ANK3_uc001jkx.2_Missense_Mutation_p.M997I|ANK3_uc010qih.1_Missense_Mutation_p.M1820I|ANK3_uc001jkz.3_Missense_Mutation_p.M1813I|ANK3_uc001jkv.2_Missense_Mutation_p.M352I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4329					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAGTCCTACTCATCTTTTTCA	0.473		NaN											0	0	0	1	0	79	216				
JMJD1C	221037	broad.mit.edu	37	10	64952854	64952854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:64952854G>A	uc001jmn.2	-	16	6220	c.5920C>T	c.(5920-5922)CAG>TAG	p.Q1974*	JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q1737*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q1686*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q872*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1974					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTGCTGCTGAGACTCAGGC	0.393		NaN											0	0	0	1	0	19	59				
MYPN	84665	broad.mit.edu	37	10	69902716	69902716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69902716G>T	uc001jnm.3	+	4	1107	c.922G>T	c.(922-924)GAG>TAG	p.E308*	MYPN_uc001jnl.1_Nonsense_Mutation_p.E308*|MYPN_uc001jnn.3_Nonsense_Mutation_p.E33*|MYPN_uc001jno.3_Nonsense_Mutation_p.E308*|MYPN_uc001jnp.1_Nonsense_Mutation_p.E308*|MYPN_uc009xps.2_Nonsense_Mutation_p.E308*|MYPN_uc009xpt.2_Nonsense_Mutation_p.E308*|MYPN_uc010qit.1_Nonsense_Mutation_p.E14*|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	308	Interaction with CARP.|Ig-like 1.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TGAAGGCAAGGAGCTTGAAAA	0.453		NaN											1	0	2.23348e-06	1	2.29586e-06	14	60				
ATOH7	220202	broad.mit.edu	37	10	69991290	69991290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69991290C>T	uc001jnq.2	-	1	566	c.145G>A	c.(145-147)GAG>AAG	p.E49K		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	atonal homolog 7	49	Basic motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CGGCGGCGCTCGCGCGCGTTG	0.736		NaN											0	0	0	1	0	7	22				
HKDC1	80201	broad.mit.edu	37	10	71008329	71008329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:71008329G>A	uc001jpf.3	+	10	1548	c.1415G>A	c.(1414-1416)AGG>AAG	p.R472K	HKDC1_uc010qje.1_Missense_Mutation_p.R335K	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	472					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CAGATCGACAGGGTGCTGGCT	0.652		NaN											0	0	0	1	0	23	52				
CDH23	64072	broad.mit.edu	37	10	73437306	73437306	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:73437306G>A	uc001jrx.3	+	15	1985	c.1608G>A	c.(1606-1608)CGG>CGA	p.R536R	CDH23_uc001jry.2_Silent_p.R152R|CDH23_uc001jrz.2_Silent_p.R152R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	536	Cadherin 5.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCATTGCCCGGGACGGGGGCG	0.602		NaN											0	0	0	1	0	8	18				
NDST2	8509	broad.mit.edu	37	10	75567556	75567556	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:75567556G>A	uc001jvk.2	-	3	1395	c.591C>T	c.(589-591)CTC>CTT	p.L197L	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L74L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L74L	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	197	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGTAGTCCCGGAGCCCCAAGT	0.577		NaN											0	0	0	1	0	17	63				
ZNF503	84858	broad.mit.edu	37	10	77158843	77158843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:77158843C>T	uc001jxg.2	-	2	1941	c.1605G>A	c.(1603-1605)CTG>CTA	p.L535L	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	535	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGTGGCTCAGCAGCTCTTCGG	0.652		NaN											0	0	0	1	0	17	53				
MMRN2	79812	broad.mit.edu	37	10	88704122	88704122	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88704122G>A	uc001kea.2	-	5	679	c.552C>T	c.(550-552)CTC>CTT	p.L184L	MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.L141L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	184	Potential.					extracellular space				large_intestine(1)	1						CATCATTCTGGAGATCTCCCA	0.532		NaN											0	0	0	1	0	52	136				
GLUD1	2746	broad.mit.edu	37	10	88822464	88822464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822464C>T	uc001keh.2	-	6	967	c.870G>A	c.(868-870)ATG>ATA	p.M290I	GLUD1_uc001keg.2_Missense_Mutation_p.M123I|GLUD1_uc010qmp.1_Missense_Mutation_p.M157I	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	290					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTAAAATGCTCATGTAAGAAG	0.388		NaN											0	0	0	1	0	13	27				
GLUD1	2746	broad.mit.edu	37	10	88822583	88822583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822583C>T	uc001keh.2	-	6	848	c.751G>A	c.(751-753)GCA>ACA	p.A251T	GLUD1_uc001keg.2_Missense_Mutation_p.A84T|GLUD1_uc010qmp.1_Missense_Mutation_p.A118T	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	251					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAGGCGTGTGCATTAATATCC	0.418		NaN											0	0	0	1	0	7	25				
PTEN	5728	broad.mit.edu	37	10	89725197	89725197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:89725197G>A	uc001kfb.2	+	10	2211	c.1180G>A	c.(1180-1182)GAA>AAA	p.E394K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	394					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCTTTTGATGAAGATCAGCA	0.328		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	1	0	10	19		Valid		
KIF20B	9585	broad.mit.edu	37	10	91528126	91528126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:91528126C>T	uc001kgs.1	+	30	5141	c.5069C>T	c.(5068-5070)TCT>TTT	p.S1690F	KIF20B_uc001kgr.1_Missense_Mutation_p.S1650F|KIF20B_uc001kgt.1_Missense_Mutation_p.S901F|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1690	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GATAGAAATTCTTCTGTCAAA	0.294		NaN											0	0	0	1	0	15	30				
CC2D2B	387707	broad.mit.edu	37	10	97769626	97769626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:97769626G>C	uc001kll.2	+	3	265	c.66G>C	c.(64-66)AAG>AAC	p.K22N	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.K22N	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	22										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATATAAGAAAGAATTGGCTTG	0.338		NaN											0	0	0	1	0	11	36				
DNTT	1791	broad.mit.edu	37	10	98087257	98087257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98087257G>A	uc001kmf.2	+	7	1077	c.907G>A	c.(907-909)GTG>ATG	p.V303M	DNTT_uc001kmg.2_Missense_Mutation_p.V303M	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	303	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGTCAGCTGTGTGACCAGGGC	0.517		NaN											0	0	0	1	0	73	188				
TLL2	7093	broad.mit.edu	37	10	98145844	98145844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98145844G>A	uc001kml.1	-	15	2207	c.1981C>T	c.(1981-1983)CAG>TAG	p.Q661*		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	661	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTCAAACTGAAGGGAGATC	0.522		NaN											0	0	0	1	0	23	73				
C10orf12	26148	broad.mit.edu	37	10	98744637	98744637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98744637G>C	uc001kmv.2	+	1	3597	c.3490G>C	c.(3490-3492)GAA>CAA	p.E1164Q		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1164										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTCCAGGAAAGAAAAAGAGAA	0.493		NaN											0	0	0	1	0	23	58				
RRP12	23223	broad.mit.edu	37	10	99123623	99123623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99123623C>T	uc001knf.2	-	30	3694	c.3555G>A	c.(3553-3555)GTG>GTA	p.V1185V	RRP12_uc001kne.2_Silent_p.V200V|RRP12_uc009xvl.2_Silent_p.V302V|RRP12_uc009xvm.2_Silent_p.V903V|RRP12_uc010qou.1_Silent_p.V1124V|RRP12_uc009xvn.2_Silent_p.V1085V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1185						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTGATGATCACATCTTCCA	0.542		NaN											0	0	0	1	0	44	173				
C10orf28	27291	broad.mit.edu	37	10	99994257	99994257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99994257C>G	uc001kow.3	+	6	2311	c.2016C>G	c.(2014-2016)TTC>TTG	p.F672L	C10orf28_uc001kox.3_Missense_Mutation_p.F686L|C10orf28_uc001koy.3_Missense_Mutation_p.F672L|C10orf28_uc009xvx.2_Missense_Mutation_p.F672L|C10orf28_uc009xvy.2_Missense_Mutation_p.F78L|C10orf28_uc001koz.3_RNA	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	672							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TAGGAGTATTCTCCAGTCCAA	0.323		NaN											0	0	0	1	0	15	44				
DNMBP	23268	broad.mit.edu	37	10	101639649	101639649	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:101639649G>T	uc001kqj.2	-	16	4559	c.4467C>A	c.(4465-4467)CTC>CTA	p.L1489L	DNMBP_uc010qpl.1_Silent_p.L425L|DNMBP_uc001kqg.2_Silent_p.L777L|DNMBP_uc001kqh.2_Silent_p.L1121L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1489					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCCTTTGACGAGGTCTTGAC	0.547		NaN											1	0	1.08312e-15	1	1.14393e-15	32	101				
FBXW4	6468	broad.mit.edu	37	10	103372196	103372196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103372196G>A	uc001kto.2	-	7	1221	c.875C>T	c.(874-876)CCA>CTA	p.P292L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	292	WD 3.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CCCAGCCCCTGGGGGAAAGTC	0.582		NaN											0	0	0	1	0	33	127				
C10orf76	79591	broad.mit.edu	37	10	103607320	103607320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103607320C>A	uc009xwy.1	-	26	2137	c.2035G>T	c.(2035-2037)GAA>TAA	p.E679*	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	679						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTTCTTGGCTGAGT	0.592		NaN											1	0	1.06801e-11	1	1.11821e-11	25	83				
INA	9118	broad.mit.edu	37	10	105037875	105037875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105037875G>A	uc001kws.2	+	1	956	c.907G>A	c.(907-909)GAG>AAG	p.E303K	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.E303K	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	303	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCAGCACCGAGGCCATCCG	0.657		NaN											0	0	0	1	0	17	48				
SLK	9748	broad.mit.edu	37	10	105762646	105762646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105762646G>C	uc001kxo.1	+	9	1744	c.1710G>C	c.(1708-1710)CAG>CAC	p.Q570H	SLK_uc001kxp.1_Missense_Mutation_p.Q570H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	570	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGATACGCAGAGTAATGATG	0.443		NaN											0	0	0	1	0	11	48				
C10orf79	80217	broad.mit.edu	37	10	105948061	105948061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105948061C>T	uc001kxw.2	-	13	1770	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K	C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.E553K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	552											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		GTGAACATCTCCAACCTGCTT	0.438		NaN											0	0	0	1	0	18	48				
SORCS1	114815	broad.mit.edu	37	10	108378015	108378015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:108378015C>T	uc001kym.2	-	21	2820	c.2812G>A	c.(2812-2814)GAG>AAG	p.E938K	SORCS1_uc001kyl.2_Missense_Mutation_p.E938K|SORCS1_uc009xxs.2_Missense_Mutation_p.E938K|SORCS1_uc001kyn.1_Missense_Mutation_p.E938K|SORCS1_uc001kyo.2_Missense_Mutation_p.E938K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	938	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCTCCAAGGTGATC	0.463		NaN											0	0	0	1	0	15	51				
SMC3	9126	broad.mit.edu	37	10	112361525	112361525	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:112361525G>A	uc001kze.2	+	24	2901	c.2775G>A	c.(2773-2775)ATG>ATA	p.M925I		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	925					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAAAAGATGACAAATCGGC	0.378		NaN											0	0	0	1	0	24	60				
PNLIPRP1	5407	broad.mit.edu	37	10	118354358	118354358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118354358G>C	uc001lco.1	+	5	465	c.447G>C	c.(445-447)CAG>CAC	p.Q149H	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q149H|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	149					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AGGTGGCCCAGATGCTCGACA	0.587		NaN											0	0	0	1	0	11	49				
KIAA1598	57698	broad.mit.edu	37	10	118704476	118704476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118704476C>T	uc009xyw.2	-	8	1168	c.670G>A	c.(670-672)GAG>AAG	p.E224K	KIAA1598_uc001lcz.3_Missense_Mutation_p.E224K|KIAA1598_uc010qso.1_Missense_Mutation_p.E164K|KIAA1598_uc010qsp.1_Missense_Mutation_p.E224K|KIAA1598_uc010qsq.1_Missense_Mutation_p.E164K|KIAA1598_uc001lcy.3_Missense_Mutation_p.E194K	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	224	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		AGGTCCTTCTCCAGCTCCAGG	0.318		NaN											0	0	0	1	0	51	199				
PDZD8	118987	broad.mit.edu	37	10	119044215	119044215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:119044215G>C	uc001lde.1	-	5	2228	c.2029C>G	c.(2029-2031)CAA>GAA	p.Q677E		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	677					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCATGTTTGACGGTCGTCC	0.433		NaN											0	0	0	1	0	14	63				
C10orf88	80007	broad.mit.edu	37	10	124697599	124697599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:124697599G>A	uc001lgw.2	-	5	950	c.725C>T	c.(724-726)TCC>TTC	p.S242F	C10orf88_uc001lgx.2_Missense_Mutation_p.S144F	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	242											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGTAGATGAGGATTGTAGTCC	0.403		NaN											0	0	0	1	0	32	102				
ZRANB1	54764	broad.mit.edu	37	10	126631753	126631753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:126631753C>T	uc001lic.2	+	1	1062	c.691C>T	c.(691-693)CAG>TAG	p.Q231*	ZRANB1_uc010qug.1_Nonsense_Mutation_p.Q257*	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	231					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGGATTTTCAGAGGATTGA	0.433		NaN											0	0	0	1	0	22	54				
MKI67	4288	broad.mit.edu	37	10	129904353	129904353	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:129904353G>A	uc001lke.2	-	13	5946	c.5751C>T	c.(5749-5751)ATC>ATT	p.I1917I	MKI67_uc001lkf.2_Silent_p.I1557I|MKI67_uc009yav.1_Silent_p.I1492I|MKI67_uc009yaw.1_Silent_p.I1067I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1917	16 X 122 AA approximate repeats.|8.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAAATGTGTTGATGTCTTTCT	0.478		NaN											0	0	0	1	0	64	200				
GLRX3	10539	broad.mit.edu	37	10	131969878	131969878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:131969878C>G	uc001lkm.1	+	8	824	c.802C>G	c.(802-804)CTG>GTG	p.L268V	GLRX3_uc001lkn.1_Missense_Mutation_p.L268V|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	268	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CAAACAAATTCTGGAAATACT	0.254		NaN											0	0	0	1	0	19	68				
JAKMIP3	282973	broad.mit.edu	37	10	133918366	133918366	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:133918366C>T	uc001lkx.3	+	1	54	c.54C>T	c.(52-54)CTC>CTT	p.L18L		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGAGGCCCTCGCGGCGCTGC	0.667		NaN											0	0	0	1	0	3	6				
PWWP2B	170394	broad.mit.edu	37	10	134219649	134219649	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134219649G>A	uc001lll.3	+	2	1674	c.1645G>A	c.(1645-1647)GAA>AAA	p.E549K	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	549	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTTTCTCTGAATTTTTCAA	0.488		NaN											0	0	0	1	0	32	84				
KNDC1	85442	broad.mit.edu	37	10	134999708	134999708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134999708G>A	uc001llz.1	+	6	857	c.856G>A	c.(856-858)GAG>AAG	p.E286K	KNDC1_uc001lma.1_Missense_Mutation_p.E221K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	286					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGATGCCGAGCGCACCCT	0.701		NaN											0	0	0	1	0	5	17				
CDHR5	53841	broad.mit.edu	37	11	624652	624652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:624652C>T	uc001lqj.2	-	2	271	c.166G>A	c.(166-168)GAG>AAG	p.E56K	CDHR5_uc001lqk.2_Missense_Mutation_p.E56K|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E56K|CDHR5_uc001lql.2_Missense_Mutation_p.E56K|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E56K|CDHR5_uc001lqn.1_Missense_Mutation_p.E56K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	56	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TCCTGGCCCTCCGGGACGTGG	0.552		NaN											0	0	0	1	0	36	127				
AP2A2	161	broad.mit.edu	37	11	1008107	1008107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1008107G>A	uc001lss.2	+	18	2573	c.2392G>A	c.(2392-2394)GAG>AAG	p.E798K		NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	798					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGACTTCACGGAGGCGCCAGT	0.657		NaN											0	0	0	1	0	9	19				
MUC2	4583	broad.mit.edu	37	11	1088741	1088741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1088741G>A	uc001lsx.1	+	26	3553	c.3526G>A	c.(3526-3528)GAG>AAG	p.E1176K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1176						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTATGAGGAGGATCTGAA	0.612		NaN											0	0	0	1	0	4	22				
SLC22A18	5002	broad.mit.edu	37	11	2929501	2929501	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2929501C>T	uc001lwx.2	+	3	401	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SLC22A18_uc001lwy.2_Silent_p.F61F|SLC22A18_uc001lwz.2_Silent_p.F61F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	61	Helical; (Potential).				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTGCCTTCGGCTACCTGC	0.617		NaN											0	0	0	1	0	25	48				
SLC22A18	5002	broad.mit.edu	37	11	2946264	2946264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2946264C>T	uc001lwx.2	+	11	1330	c.1112C>T	c.(1111-1113)TCT>TTT	p.S371F	SLC22A18_uc001lwy.2_Missense_Mutation_p.S371F|SLC22A18_uc001lwz.2_Missense_Mutation_p.S273F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	371					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTGCGCCTCTGTACAACCA	0.652		NaN											0	0	0	1	0	35	103				
OR51D1	390038	broad.mit.edu	37	11	4661773	4661773	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:4661773C>G	uc010qyk.1	+	1	753	c.753C>G	c.(751-753)TTC>TTG	p.F251L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGGCTTTCAACACCTGCA	0.557		NaN											0	0	0	1	0	33	94				
OR52A4	390053	broad.mit.edu	37	11	5142389	5142389	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5142389G>A	uc001lzz.1	-	1	420	c.420C>T	c.(418-420)TTC>TTT	p.F140F	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGTCGAGTGAATACTATAG	0.458		NaN											0	0	0	1	0	12	39				
OR52D1	390066	broad.mit.edu	37	11	5510634	5510634	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5510634C>T	uc010qzg.1	+	1	698	c.698C>T	c.(697-699)TCT>TTT	p.S233F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTTCCATCTCATGATGCC	0.512		NaN											0	0	0	1	0	35	161				
UBQLN3	50613	broad.mit.edu	37	11	5530516	5530516	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5530516G>A	uc001may.1	-	2	359	c.273C>T	c.(271-273)ATC>ATT	p.I91I	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	91	Ubiquitin-like.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCTCTTGATGACCAGGT	0.567		NaN											0	0	0	1	0	21	75				
OR56A3	390083	broad.mit.edu	37	11	5968681	5968681	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5968681C>T	uc010qzt.1	+	1	105	c.105C>T	c.(103-105)CTC>CTT	p.L35L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCCCCTCAGCCTCCTTT	0.582		NaN											0	0	0	1	0	41	96				
DCHS1	8642	broad.mit.edu	37	11	6661080	6661080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:6661080C>T	uc001mem.1	-	2	2175	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	589	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCCCTCAGGCAGTGAG	0.567		NaN											0	0	0	1	0	11	65				
RBMXL2	27288	broad.mit.edu	37	11	7110619	7110619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:7110619G>A	uc001mfc.2	+	1	455	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	90						nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCGGCGTTCGAGAGCAGCCG	0.602		NaN											0	0	0	1	0	6	22				
ASCL3	56676	broad.mit.edu	37	11	8959695	8959695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:8959695C>T	uc001mhd.1	-	2	74	c.14G>A	c.(13-15)AGA>AAA	p.R5K		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	4					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGTTGCCTCTGTTGTCCAT	0.443		NaN											0	0	0	1	0	80	227				
SCUBE2	57758	broad.mit.edu	37	11	9111371	9111371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:9111371C>G	uc001mhh.1	-	2	219	c.139G>C	c.(139-141)GAT>CAT	p.D47H	SCUBE2_uc001mhi.1_Missense_Mutation_p.D47H|SCUBE2_uc001mhj.1_Missense_Mutation_p.D47H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	47	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACACTCATCTACATCTGCA	0.443		NaN											0	0	0	1	0	27	106				
AMPD3	272	broad.mit.edu	37	11	10483090	10483090	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:10483090G>A	uc001mio.1	+	2	359	c.24G>A	c.(22-24)CTG>CTA	p.L8L	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Silent_p.L17L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.L8L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.L15L|AMPD3_uc009yfy.2_Silent_p.L8L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	8					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCCAAGCTGAACATCTCTG	0.537		NaN											0	0	0	1	0	49	166				
MICAL2	9645	broad.mit.edu	37	11	12245000	12245000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:12245000C>T	uc001mjz.2	+	12	1780	c.1492C>T	c.(1492-1494)CTC>TTC	p.L498F	MICAL2_uc010rch.1_Missense_Mutation_p.L498F|MICAL2_uc001mka.2_Missense_Mutation_p.L498F|MICAL2_uc010rci.1_Missense_Mutation_p.L498F|MICAL2_uc001mkb.2_Missense_Mutation_p.L498F|MICAL2_uc001mkc.2_Missense_Mutation_p.L498F|MICAL2_uc001mkd.2_Missense_Mutation_p.L327F|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	498						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GCACTACCCTCTCGAGAGACT	0.562		NaN											0	0	0	1	0	28	121				
BTBD10	84280	broad.mit.edu	37	11	13427306	13427306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:13427306C>G	uc001mkz.2	-	7	1163	c.906G>C	c.(904-906)CAG>CAC	p.Q302H	BTBD10_uc010rcl.1_Missense_Mutation_p.Q310H|BTBD10_uc001mla.2_Missense_Mutation_p.Q286H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.Q254H|BTBD10_uc010rcn.1_Missense_Mutation_p.Q271H|BTBD10_uc009ygo.2_Missense_Mutation_p.Q254H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	302						nucleus					0				Epithelial(150;0.0214)		GTTCCCCACTCTGGGCACTAG	0.428		NaN											0	0	0	1	0	44	117				
RPS13	6207	broad.mit.edu	37	11	17099182	17099182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:17099182G>A	uc001mmp.2	-	1	39	c.7C>T	c.(7-9)CGC>TGC	p.R3C		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	3					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						GCATGCATGCGACCCATGATG	0.652		NaN											0	0	0	1	0	14	50				
NAV2	89797	broad.mit.edu	37	11	20078127	20078127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:20078127C>T	uc010rdm.1	+	21	5313	c.4952C>T	c.(4951-4953)TCA>TTA	p.S1651L	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1651	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTTCACAGCTCACTTCATTTC	0.408		NaN											0	0	0	1	0	9	43				
ANO5	203859	broad.mit.edu	37	11	22297645	22297645	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:22297645G>C	uc001mqi.2	+	21	2737	c.2420G>C	c.(2419-2421)AGA>ACA	p.R807T	ANO5_uc001mqj.2_Missense_Mutation_p.R806T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	807	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTCAGGTACAGAGATTACAGA	0.323		NaN											0	0	0	1	0	11	29				
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:26586972G>C	uc001mqx.2	-	2	700	c.434C>G	c.(433-435)TCT>TGT	p.S145C	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172C|MUC15_uc001mqy.2_Missense_Mutation_p.S172C	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	145	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTGAAGACAGAGCAGG	0.428		NaN											0	0	0	1	0	35	122				
ELP4	26610	broad.mit.edu	37	11	31648699	31648699	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:31648699G>A	uc001mtb.2	+	6	731	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.Q232Q|ELP4_uc010rdz.1_Silent_p.Q233Q	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	232					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					AGTTTATCCAGAACATCATTT	0.318		NaN											0	0	0	1	0	14	44				
FBXO3	26273	broad.mit.edu	37	11	33772145	33772145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:33772145G>A	uc001muz.2	-	8	900	c.872C>T	c.(871-873)TCG>TTG	p.S291L	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.S178L|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.S291L|FBXO3_uc001mvb.1_Missense_Mutation_p.S286L|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	291	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGGCAGAAACGATGTGGAAAC	0.373		NaN											0	0	0	1	0	10	34				
RAG2	5897	broad.mit.edu	37	11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:36614675C>G	uc001mwv.3	-	2	1232	c.1044G>C	c.(1042-1044)TTG>TTC	p.L348F	RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	348					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	1	0	32	93				
AMBRA1	55626	broad.mit.edu	37	11	46419000	46419000	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46419000C>T	uc010rgu.1	-	18	4257	c.3897G>A	c.(3895-3897)TAG>TAA	p.*1299*	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.*1270*|AMBRA1_uc001ncu.1_Silent_p.*1209*|AMBRA1_uc001ncv.2_Silent_p.*1302*|AMBRA1_uc001ncw.2_Silent_p.*1180*|AMBRA1_uc001ncx.2_Silent_p.*1239*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1299					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGTTTGTCTCTACCTGTTCC	0.592		NaN											0	0	0	1	0	31	95				
CKAP5	9793	broad.mit.edu	37	11	46801788	46801788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46801788C>T	uc001ndi.1	-	20	2499	c.2389G>A	c.(2389-2391)GAG>AAG	p.E797K	CKAP5_uc009ylg.1_Missense_Mutation_p.E683K|CKAP5_uc001ndj.1_Missense_Mutation_p.E797K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	797					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GCAGGCTTCTCATCCTCAAAG	0.443		NaN											0	0	0	1	0	12	55				
LRP4	4038	broad.mit.edu	37	11	46907941	46907941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46907941C>T	uc001ndn.3	-	17	2505	c.2359G>A	c.(2359-2361)GTG>ATG	p.V787M		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	787	Extracellular (Potential).|LDL-receptor class B 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GTCCAGTACACGTGGTCATCC	0.577		NaN											0	0	0	1	0	7	19				
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	C	T	rs14051		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47073976C>T	uc001ndp.2	+	3	293	c.187C>T	c.(187-189)CGA>TGA	p.R63*	C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	63											0						CATTCTCTTTCGAGAATTCAG	0.453		NaN											0	0	0	1	0	50	134				
DDB2	1643	broad.mit.edu	37	11	47259519	47259519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259519G>A	uc001neb.2	+	8	1350	c.1155G>A	c.(1153-1155)CAG>CAA	p.Q385Q	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.Q321Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Silent_p.Q196Q|DDB2_uc001nef.2_Silent_p.Q182Q|DDB2_uc001neg.2_Silent_p.Q244Q|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	385					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TGATGTGTCAGCTCTATGACC	0.463		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	18	70				
DDB2	1643	broad.mit.edu	37	11	47259526	47259526	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259526G>A	uc001neb.2	+	8	1357	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.D324N|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.D199N|DDB2_uc001nef.2_Missense_Mutation_p.D185N|DDB2_uc001neg.2_Missense_Mutation_p.D247N|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	388					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TCAGCTCTATGACCCAGAATC	0.463		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	17	63				
MYBPC3	4607	broad.mit.edu	37	11	47372904	47372904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47372904C>T	uc001nfa.3	-	2	233	c.178G>A	c.(178-180)GAG>AAG	p.E60K		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	60					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CGTGTGCCCTCTGTGGCCAGG	0.632		NaN											0	0	0	1	0	3	21				
PTPRJ	5795	broad.mit.edu	37	11	48161324	48161324	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:48161324C>T	uc001ngp.3	+	11	2794	c.2439C>T	c.(2437-2439)ATC>ATT	p.I813I	PTPRJ_uc010rhr.1_Silent_p.I258I	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	813	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CTACTGGCATCACAGGTGGGC	0.542		NaN											0	0	0	1	0	10	27				
TRIM48	79097	broad.mit.edu	37	11	55032749	55032749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55032749C>T	uc010rid.1	+	2	504	c.418C>T	c.(418-420)CAC>TAC	p.H140Y		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	124	B box-type.					intracellular	zinc ion binding				0						GCACCGGTATCACAGACACTG	0.507		NaN											0	0	0	1	0	25	34				
OR4C15	81309	broad.mit.edu	37	11	55321997	55321997	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55321997A>T	uc010rig.1	+	1	215	c.215A>T	c.(214-216)AAT>ATT	p.N72I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTTCACAGAATCCAAATGTT	0.398		NaN								HNSCC(20;0.049)			0	0	0	1	0	35	96				
OR4C16	219428	broad.mit.edu	37	11	55340229	55340229	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55340229A>C	uc010rih.1	+	1	626	c.626A>C	c.(625-627)TAT>TCT	p.Y209S		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GCAGTGAGTTATGTCATGCTA	0.433		NaN											0	0	0	1	0	17	45				
OR8I2	120586	broad.mit.edu	37	11	55861684	55861684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55861684C>G	uc010rix.1	+	1	901	c.901C>G	c.(901-903)CTG>GTG	p.L301V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AAATGCTCTTCTGAGAGTCAT	0.388		NaN											0	0	0	1	0	7	21				
OR8H3	390152	broad.mit.edu	37	11	55890712	55890712	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55890712C>G	uc001nii.1	+	1	864	c.864C>G	c.(862-864)CTC>CTG	p.L288L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TGAATCCACTCATTTATAGTC	0.363		NaN											0	0	0	1	0	17	54				
OR8K3	219473	broad.mit.edu	37	11	56086160	56086160	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:56086160C>T	uc010rjf.1	+	1	378	c.378C>T	c.(376-378)ATC>ATT	p.I126I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATGTGGCCATCTGTAACCCTC	0.413		NaN											0	0	0	1	0	20	62				
APLNR	187	broad.mit.edu	37	11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57004286C>T	uc001njo.2	-	1	642	c.193G>A	c.(193-195)GAT>AAT	p.D65N	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	65	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						ATGAAGATATCAGCTGAGCGC	0.612		NaN											0	0	0	1	0	20	59				
SMTNL1	219537	broad.mit.edu	37	11	57310770	57310770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310770G>A	uc009ymh.1	+	2	709	c.709G>A	c.(709-711)GAT>AAT	p.D237N		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	219										ovary(1)	1						CAAGGAGCCCGATGGGAAAGA	0.557		NaN											0	0	0	1	0	23	45				
SMTNL1	219537	broad.mit.edu	37	11	57310839	57310839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310839G>A	uc009ymh.1	+	2	778	c.778G>A	c.(778-780)GAG>AAG	p.E260K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	242										ovary(1)	1						GGAGGATGCAGAGGAGGCAGT	0.567		NaN											0	0	0	1	0	13	55				
SERPING1	710	broad.mit.edu	37	11	57373936	57373936	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57373936C>T	uc001nkp.1	+	6	1136	c.945C>T	c.(943-945)TTC>TTT	p.F315F	SERPING1_uc001nkq.1_Silent_p.F315F|SERPING1_uc010rju.1_Silent_p.F263F|SERPING1_uc010rjv.1_Silent_p.F320F|SERPING1_uc001nkr.1_Silent_p.F315F|SERPING1_uc009ymi.1_Silent_p.F324F|SERPING1_uc009ymj.1_Silent_p.F315F|SERPING1_uc001nks.1_Silent_p.F6F	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	315				HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CCTTTCACTTCAAAAACTCAG	0.423		NaN							Hereditary_Angioedema				0	0	0	1	0	29	97				
GLYAT	10249	broad.mit.edu	37	11	58477493	58477493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:58477493C>T	uc001nnb.2	-	6	792	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	213					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGGGTCCCCTCAGGCCCCAGG	0.537		NaN											0	0	0	1	0	19	82				
TMEM132A	54972	broad.mit.edu	37	11	60699265	60699265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:60699265C>G	uc001nqj.2	+	6	1314	c.1121C>G	c.(1120-1122)CCA>CGA	p.P374R	TMEM132A_uc001nqi.2_Missense_Mutation_p.P375R|TMEM132A_uc001nqk.2_Missense_Mutation_p.P387R|TMEM132A_uc001nql.1_Missense_Mutation_p.P387R|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	374	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CTGGAGTACCCAGGCCAGGCC	0.577		NaN											0	0	0	1	0	36	114				
VWCE	220001	broad.mit.edu	37	11	61058812	61058812	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61058812G>A	uc001nra.2	-	3	498	c.219C>T	c.(217-219)TTC>TTT	p.F73F	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1.					extracellular region	calcium ion binding			ovary(1)	1						TCCCACAGCCGAAGGAGCAGA	0.642		NaN											0	0	0	1	0	3	26				
RAB3IL1	5866	broad.mit.edu	37	11	61672247	61672247	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61672247G>A	uc001nso.2	-	6	923	c.765C>T	c.(763-765)TGC>TGT	p.C255C	RAB3IL1_uc001nsp.2_Silent_p.C229C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	255							protein binding			skin(2)|central_nervous_system(1)	3						TGAAGTCCAGGCAGGGGCCCA	0.662		NaN											0	0	0	1	0	3	23				
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293224C>G	uc001ntl.2	-	5	8965	c.8665G>C	c.(8665-8667)GAC>CAC	p.D2889H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2889					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517		NaN											0	0	0	1	0	82	258				
AHNAK	79026	broad.mit.edu	37	11	62293417	62293417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293417C>G	uc001ntl.2	-	5	8772	c.8472G>C	c.(8470-8472)AAG>AAC	p.K2824N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2824					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCTCTGGCATCTTAAACTTTG	0.428		NaN											0	0	0	1	0	37	128				
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62294428C>T	uc001ntl.2	-	5	7761	c.7461G>A	c.(7459-7461)ATG>ATA	p.M2487I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2487					nervous system development	nucleus	protein binding	p.M2487V(1)		ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478		NaN											0	0	0	1	0	75	165				
GANAB	23193	broad.mit.edu	37	11	62397394	62397394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62397394C>T	uc001nub.2	-	14	1662	c.1629G>A	c.(1627-1629)ATG>ATA	p.M543I	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.M565I|GANAB_uc001nuc.2_Missense_Mutation_p.M446I|GANAB_uc010rma.1_Missense_Mutation_p.M451I|GANAB_uc010rmb.1_Missense_Mutation_p.M429I	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	543					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						ATGGTTCGTTCATGTCATTCC	0.537		NaN											0	0	0	1	0	20	85				
INTS5	80789	broad.mit.edu	37	11	62416061	62416061	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62416061G>A	uc001nud.2	-	2	1544	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	497					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GGTGCTGCCAGAGGAAGCGCT	0.602		NaN											0	0	0	1	0	52	167				
C11orf83	790955	broad.mit.edu	37	11	62439326	62439326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62439326G>A	uc001nui.3	+	1	201	c.109G>A	c.(109-111)GAA>AAA	p.E37K	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	37						extracellular region					0						GCGGAAGCAGGAAATGCTAAA	0.632		NaN											0	0	0	1	0	21	62				
HNRNPUL2	221092	broad.mit.edu	37	11	62483065	62483065	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62483065G>A	uc001nuw.2	-	13	2263	c.2070C>T	c.(2068-2070)TTC>TTT	p.F690F	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	690	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						ATCGATCATAGAAATTACGGT	0.423		NaN											0	0	0	1	0	27	95				
NXF1	10482	broad.mit.edu	37	11	62563952	62563952	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62563952G>A	uc001nvf.1	-	14	1402	c.1266C>T	c.(1264-1266)TTC>TTT	p.F422F	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Silent_p.F465F	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	422	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TCTGAGGAATGAAAGGAATGC	0.547		NaN											0	0	0	1	0	31	135				
SLC22A25	387601	broad.mit.edu	37	11	62985102	62985102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62985102G>T	uc001nwr.1	-	3	612	c.612C>A	c.(610-612)TTC>TTA	p.F204L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.F204L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	204	Extracellular (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						CCCCAGCCAAGAAGCGCAGGG	0.473		NaN											1	0	1.58986e-06	1	1.63725e-06	10	46				
RTN3	10313	broad.mit.edu	37	11	63520033	63520033	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63520033G>A	uc001nxq.2	+	5	2980	c.2793G>A	c.(2791-2793)ATG>ATA	p.M931I	RTN3_uc001nxo.2_Missense_Mutation_p.M135I|RTN3_uc001nxm.2_Missense_Mutation_p.M154I|RTN3_uc001nxn.2_Missense_Mutation_p.M912I|RTN3_uc001nxp.2_Missense_Mutation_p.M135I|RTN3_uc009yov.2_Missense_Mutation_p.M819I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	931	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						ATAATTACATGAATGCTGCCA	0.423		NaN											0	0	0	1	0	39	117				
FERMT3	83706	broad.mit.edu	37	11	63978565	63978565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63978565G>A	uc001nyl.2	+	4	585	c.436G>A	c.(436-438)GAG>AAG	p.E146K	FERMT3_uc001nym.2_Missense_Mutation_p.E146K	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	146					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CCGGGCTCCTGagaagaagga	0.552		NaN											0	0	0	1	0	5	12				
PYGM	5837	broad.mit.edu	37	11	64514790	64514790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64514790G>A	uc001oax.3	-	18	3035	c.2218C>T	c.(2218-2220)CGG>TGG	p.R740W	RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R652W	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	740					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	ATGACCTGCCGAAGCTCAGGA	0.567		NaN											0	0	0	1	0	30	63				
NAALADL1	10004	broad.mit.edu	37	11	64821987	64821987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64821987G>A	uc001ocn.2	-	5	843	c.827C>T	c.(826-828)TCC>TTC	p.S276F	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	276	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GGGAAATCCGGAGACATTGGC	0.597		NaN											0	0	0	1	0	10	35				
SLC22A20	440044	broad.mit.edu	37	11	64985056	64985056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64985056C>T	uc010roc.1	+	3	533	c.530C>T	c.(529-531)TCG>TTG	p.S177L	SLC22A20_uc010rob.1_Missense_Mutation_p.S177L	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	177	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CTGGCAGCTTCGGGGGCCGCC	0.602		NaN											0	0	0	1	0	13	27				
SNX32	254122	broad.mit.edu	37	11	65618826	65618826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65618826C>T	uc001ofr.2	+	8	864	c.737C>T	c.(736-738)TCA>TTA	p.S246L		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	246					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		ATCCCTATCTCAGCTGCGCTG	0.562		NaN									OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	14	40				
CATSPER1	117144	broad.mit.edu	37	11	65793777	65793777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65793777G>C	uc001ogt.2	-	1	212	c.74C>G	c.(73-75)TCT>TGT	p.S25C		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	25	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						TGATGAGTGAGAGCGAAAGAA	0.542		NaN											0	0	0	1	0	33	132				
LRFN4	78999	broad.mit.edu	37	11	66627266	66627266	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:66627266C>G	uc001ojr.2	+	2	1848	c.1508C>G	c.(1507-1509)TCG>TGG	p.S503W	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	503	Extracellular (Potential).					integral to membrane					0						CTGCCGGCCTCGCCCCTGTGC	0.701		NaN											0	0	0	1	0	4	26				
NDUFV1	4723	broad.mit.edu	37	11	67379873	67379873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67379873G>A	uc001omj.2	+	10	1492	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	NDUFV1_uc010rpv.1_Missense_Mutation_p.E346K|NDUFV1_uc001oml.2_Missense_Mutation_p.E440K|NDUFV1_uc001omk.3_Missense_Mutation_p.E438K|NDUFV1_uc010rpw.1_Missense_Mutation_p.E156K	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	447					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GCCGGAGCTCGAGGAGCGGAT	0.632		NaN											0	0	0	1	0	12	47				
TBX10	347853	broad.mit.edu	37	11	67402490	67402490	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67402490C>T	uc001omp.2	-	2	340	c.252G>A	c.(250-252)GAG>GAA	p.E84E		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	84	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGACGATCATCTCAGTGCCCA	0.647		NaN											0	0	0	1	0	26	45				
PDE2A	5138	broad.mit.edu	37	11	72294523	72294523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72294523G>A	uc010rrc.1	-	20	1930	c.1687C>T	c.(1687-1689)CGC>TGC	p.R563C	PDE2A_uc001oso.2_Missense_Mutation_p.R542C|PDE2A_uc010rra.1_Missense_Mutation_p.R556C|PDE2A_uc001osn.2_Missense_Mutation_p.R307C|PDE2A_uc010rrb.1_Missense_Mutation_p.R554C|PDE2A_uc010rrd.1_Missense_Mutation_p.R448C	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	563					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGGTGGCTGCGATACTGAGCC	0.537		NaN											0	0	0	1	0	31	80				
ARAP1	116985	broad.mit.edu	37	11	72418254	72418254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72418254G>C	uc001osu.2	-	12	1878	c.1689C>G	c.(1687-1689)ATC>ATG	p.I563M	ARAP1_uc001osv.2_Missense_Mutation_p.I563M|ARAP1_uc001osr.2_Missense_Mutation_p.I323M|ARAP1_uc001oss.2_Missense_Mutation_p.I318M|ARAP1_uc009yth.2_Missense_Mutation_p.I318M|ARAP1_uc010rre.1_Missense_Mutation_p.I318M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	563	C4-type.|Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CACAGAGGTTGATGGAGGCCC	0.647		NaN											0	0	0	1	0	5	22				
PRKRIR	5612	broad.mit.edu	37	11	76063335	76063335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063335G>C	uc001oxh.1	-	5	859	c.859C>G	c.(859-861)CAT>GAT	p.H287D	PRKRIR_uc010rrz.1_Missense_Mutation_p.H112D	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	287					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CTTAGGTTATGAGATTCATCA	0.423		NaN											0	0	0	1	0	7	34				
PRKRIR	5612	broad.mit.edu	37	11	76063340	76063340	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063340T>C	uc001oxh.1	-	5	854	c.854A>G	c.(853-855)GAA>GGA	p.E285G	PRKRIR_uc010rrz.1_Missense_Mutation_p.E110G	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	285					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GTTATGAGATTCATCAACAAA	0.428		NaN											0	0	0	1	0	6	32				
PRKRIR	5612	broad.mit.edu	37	11	76063502	76063502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063502G>C	uc001oxh.1	-	5	692	c.692C>G	c.(691-693)TCA>TGA	p.S231*	PRKRIR_uc010rrz.1_Nonsense_Mutation_p.S56*	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	231					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CTGTGTTTTTGAACAAAACAA	0.438		NaN											0	0	0	1	0	11	32				
NARS2	79731	broad.mit.edu	37	11	78177018	78177018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:78177018C>T	uc001ozi.2	-	11	1444	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	NARS2_uc010rsq.1_Silent_p.V129V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	356					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CACAGTGCTTCACCAGGTACT	0.418		NaN											0	0	0	1	0	19	47				
C11orf82	220042	broad.mit.edu	37	11	82644076	82644076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:82644076G>A	uc001ozt.2	+	6	1940	c.1696G>A	c.(1696-1698)GAG>AAG	p.E566K	C11orf82_uc010rsr.1_Missense_Mutation_p.E265K|C11orf82_uc010rss.1_Missense_Mutation_p.E265K|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	566					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ACCACACAGGGAGAGTGACCA	0.338		NaN											0	0	0	1	0	13	19				
DLG2	1740	broad.mit.edu	37	11	83173066	83173066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83173066C>T	uc001paj.2	-	22	2788	c.2485G>A	c.(2485-2487)GAA>AAA	p.E829K	DLG2_uc001pai.2_Missense_Mutation_p.E708K|DLG2_uc010rsy.1_Missense_Mutation_p.E778K|DLG2_uc010rsz.1_Missense_Mutation_p.E825K|DLG2_uc010rta.1_Missense_Mutation_p.E811K|DLG2_uc001pak.2_Missense_Mutation_p.E934K|DLG2_uc010rtb.1_Missense_Mutation_p.E796K|DLG2_uc010rsw.1_Missense_Mutation_p.E293K|DLG2_uc010rsx.1_Missense_Mutation_p.E306K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	829	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTCCAAATTCTTGTTCTAGC	0.408		NaN											0	0	0	1	0	9	35				
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83195218G>C	uc001paj.2	-	17	2235	c.1932C>G	c.(1930-1932)TTC>TTG	p.F644L	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.F749L|DLG2_uc010rtb.1_Missense_Mutation_p.F611L|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	644						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393		NaN											0	0	0	1	0	20	85				
CCDC89	220388	broad.mit.edu	37	11	85396921	85396921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:85396921C>G	uc001pau.1	-	1	400	c.253G>C	c.(253-255)GAT>CAT	p.D85H		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	85	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGCCTCATCTGACCTCCGC	0.592		NaN											0	0	0	1	0	22	59				
CCDC67	159989	broad.mit.edu	37	11	93118581	93118581	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:93118581C>G	uc001pdq.2	+	8	907	c.807C>G	c.(805-807)CTC>CTG	p.L269L	CCDC67_uc001pdo.1_Silent_p.L269L|CCDC67_uc001pdp.2_Silent_p.L269L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	269	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAGCAGGTCTCTCAGAGGTAA	0.313		NaN											0	0	0	1	0	8	36				
MTMR2	8898	broad.mit.edu	37	11	95590723	95590723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95590723C>T	uc001pfu.2	-	7	900	c.647G>A	c.(646-648)AGA>AAA	p.R216K	MTMR2_uc001pfv.2_Missense_Mutation_p.R144K|MTMR2_uc001pfs.2_Missense_Mutation_p.R144K|MTMR2_uc001pft.2_Missense_Mutation_p.R144K|MTMR2_uc010ruj.1_Missense_Mutation_p.R199K	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	216	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCTGCCTTCTATACTCTAA	0.338		NaN											0	0	0	1	0	5	24				
MAML2	84441	broad.mit.edu	37	11	95826490	95826490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95826490C>G	uc001pfw.1	-	2	1990	c.705G>C	c.(703-705)ATG>ATC	p.M235I		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	235					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTGCTTGGCTCATAGGCAAGG	0.468		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								0	0	0	1	0	15	56				
PGR	5241	broad.mit.edu	37	11	100998975	100998975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:100998975G>A	uc001pgh.2	-	1	1570	c.827C>T	c.(826-828)TCA>TTA	p.S276L	PGR_uc001pgi.2_Missense_Mutation_p.S276L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	276	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTGGGCGCTGAGAAGCGGGA	0.731		NaN											0	0	0	1	0	7	18				
TMEM123	114908	broad.mit.edu	37	11	102272716	102272716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102272716G>C	uc001pha.2	-	3	800	c.379C>G	c.(379-381)CAG>GAG	p.Q127E	TMEM123_uc009yxc.2_Missense_Mutation_p.Q108E	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	127	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTTGATATCTGAGATGTGTTC	0.388		NaN											0	0	0	1	0	39	100				
MMP12	4321	broad.mit.edu	37	11	102742592	102742592	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102742592C>G	uc001phk.2	-	3	486	c.441G>C	c.(439-441)TTG>TTC	p.L147F		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	147					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGCTGAATTTCAAGGGGGTAA	0.418		NaN											0	0	0	1	0	9	19				
KIAA1826	84437	broad.mit.edu	37	11	105880615	105880615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:105880615C>T	uc001piy.2	-	3	858	c.685G>A	c.(685-687)GAA>AAA	p.E229K	KIAA1826_uc001piz.2_Missense_Mutation_p.E229K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	229	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CGTTCCTTTTCTACCTGCAGC	0.463		NaN											0	0	0	1	0	17	85				
GUCY1A2	2977	broad.mit.edu	37	11	106888480	106888480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:106888480G>A	uc001pjg.1	-	1	692	c.302C>T	c.(301-303)TCG>TTG	p.S101L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.S101L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S101L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	101					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCCGCTCACCGAGGGCGCCGT	0.662		NaN											0	0	0	1	0	6	11				
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108192065G>C	uc001pkb.1	+	45	6875	c.6490G>C	c.(6490-6492)GAG>CAG	p.E2164Q	ATM_uc009yxr.1_Missense_Mutation_p.E2164Q|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816Q|ATM_uc001pkg.1_Missense_Mutation_p.E521Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	1	0	29	119		Valid		
ATM	472	broad.mit.edu	37	11	108196791	108196791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108196791G>T	uc001pkb.1	+	47	7199	c.6814G>T	c.(6814-6816)GAA>TAA	p.E2272*	ATM_uc009yxr.1_Nonsense_Mutation_p.E2272*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E924*|ATM_uc001pkg.1_Nonsense_Mutation_p.E629*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2272	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGCTCCCTGAAAGGGCAAT	0.338		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			1	0	0.00621372	1	0.00626926	8	34		Valid		
EXPH5	23086	broad.mit.edu	37	11	108382527	108382527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108382527G>A	uc001pkk.2	-	6	3818	c.3707C>T	c.(3706-3708)TCT>TTT	p.S1236F	EXPH5_uc010rvy.1_Missense_Mutation_p.S1048F|EXPH5_uc010rvz.1_Missense_Mutation_p.S1080F|EXPH5_uc010rwa.1_Missense_Mutation_p.S1160F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1236					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAGAAACAGAAAACGTACT	0.373		NaN											0	0	0	1	0	19	61				
DDX10	1662	broad.mit.edu	37	11	108547945	108547945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108547945C>A	uc001pkm.2	+	4	577	c.512C>A	c.(511-513)TCA>TAA	p.S171*	DDX10_uc001pkl.1_Nonsense_Mutation_p.S171*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	171	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CATGACTTCTCAGCTGGTCTC	0.468		NaN	T	NUP98	AML*								1	0	1.06801e-11	1	1.11821e-11	29	111				
DDX10	1662	broad.mit.edu	37	11	108811112	108811112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108811112G>A	uc001pkm.2	+	18	2655	c.2590G>A	c.(2590-2592)GAA>AAA	p.E864K		NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	864							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCAGAGGATGAAGAGCTGGT	0.478		NaN	T	NUP98	AML*								0	0	0	1	0	7	56				
C11orf1	64776	broad.mit.edu	37	11	111754506	111754506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111754506G>A	uc001pmd.2	+	4	692	c.355G>A	c.(355-357)GAG>AAG	p.E119K	C11orf1_uc001pme.2_Missense_Mutation_p.E159K	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	hypothetical protein LOC64776	119						nucleus					0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATTTAAGCGAGAGCCTCACTG	0.393		NaN											0	0	0	1	0	17	49				
DIXDC1	85458	broad.mit.edu	37	11	111888513	111888513	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111888513G>A	uc001pml.2	+	20	2172	c.1875G>A	c.(1873-1875)GTG>GTA	p.V625V	DIXDC1_uc001pmm.2_Silent_p.V414V|DIXDC1_uc001pmn.2_Silent_p.V331V|DIXDC1_uc010rwq.1_Silent_p.V290V	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	625	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGGAGGTGACGTTAAAGG	0.433		NaN											0	0	0	1	0	3	15				
ZW10	9183	broad.mit.edu	37	11	113631013	113631013	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:113631013G>C	uc001poe.2	-	5	535	c.498C>G	c.(496-498)CTC>CTG	p.L166L	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	166	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTATTGTGAGCTCCATGC	0.393		NaN											0	0	0	1	0	11	41				
NNMT	4837	broad.mit.edu	37	11	114168699	114168699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:114168699G>A	uc001por.1	+	4	445	c.181G>A	c.(181-183)GAC>AAC	p.D61N	NNMT_uc001pos.1_Missense_Mutation_p.D61N	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	61					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTGCTGATTGACATCGGCTC	0.507		NaN											0	0	0	1	0	15	85				
CEP164	22897	broad.mit.edu	37	11	117244524	117244524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117244524G>A	uc001prc.2	+	10	1357	c.1210G>A	c.(1210-1212)GAC>AAC	p.D404N	CEP164_uc001prb.2_Missense_Mutation_p.D404N|CEP164_uc010rxk.1_Missense_Mutation_p.D378N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	404					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CATAGCTTCTGACCCCAAGTC	0.343		NaN											0	0	0	1	0	24	54				
DSCAML1	57453	broad.mit.edu	37	11	117308767	117308767	+	Missense_Mutation	SNP	C	C	G	rs140883925		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117308767C>G	uc001prh.1	-	25	4458	c.4456G>C	c.(4456-4458)GAG>CAG	p.E1486Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1426	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCCACTCCTCGCTGTTGTCC	0.602		NaN											0	0	0	1	0	17	43				
TMPRSS4	56649	broad.mit.edu	37	11	117988106	117988106	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117988106G>A	uc010rxo.1	+	12	1530	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	TMPRSS4_uc010rxp.1_Silent_p.P408P|TMPRSS4_uc010rxq.1_Silent_p.P266P|TMPRSS4_uc010rxr.1_Silent_p.P388P|TMPRSS4_uc010rxs.1_Silent_p.P373P|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.P388P	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	413	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCGGGGGCCCGAGCACCCCAG	0.572		NaN											0	0	0	1	0	48	163				
ZNF202	7753	broad.mit.edu	37	11	123597521	123597521	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:123597521C>T	uc001pzd.1	-	9	1531	c.1131G>A	c.(1129-1131)GTG>GTA	p.V377V	ZNF202_uc001pzc.1_Silent_p.V153V|ZNF202_uc001pze.1_Silent_p.V377V|ZNF202_uc001pzf.1_Silent_p.V377V	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	377					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAAAACTATTCACTTGAGAAA	0.433		NaN											0	0	0	1	0	21	107				
ROBO4	54538	broad.mit.edu	37	11	124766975	124766975	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:124766975C>G	uc001qbg.2	-	2	393	c.253G>C	c.(253-255)GAT>CAT	p.D85H	ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	85	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGTCCCATCAGGCAGGAGG	0.657		NaN											0	0	0	1	0	7	31				
SRPR	6734	broad.mit.edu	37	11	126137185	126137185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126137185C>G	uc001qdh.2	-	4	462	c.411G>C	c.(409-411)AAG>AAC	p.K137N	SRPR_uc010sbm.1_Missense_Mutation_p.K109N|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	137					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTCAAATTTCTTCATGGTAG	0.418		NaN											0	0	0	1	0	47	125				
FOXRED1	55572	broad.mit.edu	37	11	126142911	126142911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126142911G>A	uc001qdi.2	+	3	401	c.354G>A	c.(352-354)CAG>CAA	p.Q118Q	FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.Q104Q|FOXRED1_uc001qdk.2_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	118						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TTTGTCAGCAGTTCTCATTGC	0.483		NaN											0	0	0	1	0	25	76				
NFRKB	4798	broad.mit.edu	37	11	129744722	129744722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:129744722G>A	uc001qfi.2	-	19	2145	c.1944C>T	c.(1942-1944)ATC>ATT	p.I648I	NFRKB_uc001qfg.2_Silent_p.I673I|NFRKB_uc001qfh.2_Silent_p.I671I|NFRKB_uc010sbw.1_Silent_p.I658I|NFRKB_uc009zcr.2_5'UTR	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	648					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCAGGTAGATCCACAGCT	0.488		NaN											0	0	0	1	0	45	147				
B3GAT1	27087	broad.mit.edu	37	11	134252640	134252640	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:134252640G>A	uc001qhq.2	-	5	1143	c.882C>T	c.(880-882)CTC>CTT	p.L294L	B3GAT1_uc001qhr.2_Silent_p.L294L|B3GAT1_uc010scv.1_Silent_p.L307L	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	294	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CCAGGTCGTTGAGGGTGACAA	0.572		NaN											0	0	0	1	0	15	64				
CCDC77	84318	broad.mit.edu	37	12	549890	549890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:549890G>A	uc001qig.2	+	11	1329	c.1149G>A	c.(1147-1149)ATG>ATA	p.M383I	CCDC77_uc009zdk.2_Missense_Mutation_p.M351I|CCDC77_uc010sdp.1_Missense_Mutation_p.M351I|CCDC77_uc010sdq.1_Missense_Mutation_p.M351I	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	383	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAGGGAATGAGGAGAGAGA	0.438		NaN											0	0	0	1	0	12	45				
WNK1	65125	broad.mit.edu	37	12	1005785	1005785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:1005785G>C	uc001qio.3	+	24	6639	c.6132G>C	c.(6130-6132)CAG>CAC	p.Q2044H	WNK1_uc001qip.3_Missense_Mutation_p.Q1796H|WNK1_uc001qir.3_Missense_Mutation_p.Q1217H	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2044					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTAGCCAGAATCTAAGTC	0.463		NaN											0	0	0	1	0	12	41				
DCP1B	196513	broad.mit.edu	37	12	2113469	2113469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2113469G>T	uc001qjx.1	-	1	209	c.129C>A	c.(127-129)TTC>TTA	p.F43L	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F43L	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	43					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CCCGATGGCCGAAGGTGTACA	0.682		NaN											1	0	4.68919e-08	1	4.86744e-08	11	43				
CACNA1C	775	broad.mit.edu	37	12	2224703	2224703	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2224703C>G	uc009zdu.1	+	2	676	c.363C>G	c.(361-363)GTC>GTG	p.V121V	CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	121	Cytoplasmic (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAGCATTGTCGAATGGAAAT	0.647		NaN											0	0	0	1	0	20	77				
GPR162	27239	broad.mit.edu	37	12	6933172	6933172	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:6933172C>G	uc001qqw.1	+	2	643	c.108C>G	c.(106-108)CTC>CTG	p.L36L	GPR162_uc010sfn.1_Silent_p.L36L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	36	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGATCATCCTCAGCATCTCGG	0.657		NaN											0	0	0	1	0	15	34				
TAS2R43	259289	broad.mit.edu	37	12	11244734	11244734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:11244734G>A	uc001qzq.1	-	1	179	c.95C>T	c.(94-96)TCC>TTC	p.S32F	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	32	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCACTCAATGGAATTTACCAG	0.388		NaN											0	0	0	1	0	12	52				
ETV6	2120	broad.mit.edu	37	12	12022357	12022357	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:12022357G>T	uc001qzz.2	+	5	738	c.464_splice	c.e5-1	p.D155_splice	ETV6_uc001raa.1_5'Flank	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6							cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGCTCCACAGATAACTGTGT	0.552		NaN	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								1	0	4.14481e-20	1	4.40223e-20	38	130				
GRIN2B	2904	broad.mit.edu	37	12	13769390	13769390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:13769390C>T	uc001rbt.2	-	5	1506	c.1327G>A	c.(1327-1329)GAG>AAG	p.E443K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	443	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCATACTCAGTGACTATG	0.527		NaN											0	0	0	1	0	16	50				
ERP27	121506	broad.mit.edu	37	12	15068615	15068615	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:15068615G>A	uc001rco.2	-	6	603	c.582C>T	c.(580-582)CTC>CTT	p.L194L		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	194						endoplasmic reticulum lumen				breast(1)	1						CCAGAATAAAGAGAATCTGCA	0.403		NaN											0	0	0	1	0	11	41				
C12orf11	55726	broad.mit.edu	37	12	27066474	27066474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27066474C>T	uc001rhk.3	-	14	2258	c.1721G>A	c.(1720-1722)GGA>GAA	p.G574E	C12orf11_uc001rhj.3_Missense_Mutation_p.G142E|C12orf11_uc010sjk.1_Missense_Mutation_p.G473E	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	574	Potential.				cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					CCTCTTTCTTCCTCGTTTCTT	0.448		NaN											0	0	0	1	0	67	234				
ARNTL2	56938	broad.mit.edu	37	12	27543128	27543128	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27543128C>A	uc001rht.1	+	9	893	c.875C>A	c.(874-876)TCT>TAT	p.S292Y	ARNTL2_uc001rhw.2_Missense_Mutation_p.S255Y|ARNTL2_uc010sjp.1_Missense_Mutation_p.S255Y|ARNTL2_uc001rhu.1_Missense_Mutation_p.S278Y|ARNTL2_uc009zji.1_Missense_Mutation_p.S258Y|ARNTL2_uc001rhv.1_Missense_Mutation_p.S244Y|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	292					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTAAAATCTCTGTCAAAGAA	0.393		NaN											1	0	3.99206e-14	1	4.2057e-14	19	64				
ARNTL2	56938	broad.mit.edu	37	12	27553558	27553558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27553558G>A	uc001rht.1	+	10	1029	c.1011G>A	c.(1009-1011)AAG>AAA	p.K337K	ARNTL2_uc001rhw.2_Silent_p.K300K|ARNTL2_uc010sjp.1_Silent_p.K300K|ARNTL2_uc001rhu.1_Silent_p.K323K|ARNTL2_uc009zji.1_Silent_p.K303K|ARNTL2_uc001rhv.1_Silent_p.K289K|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	337					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGAACAGTAAGAAAGACAACA	0.378		NaN											0	0	0	1	0	23	50				
C12orf40	283461	broad.mit.edu	37	12	40037702	40037702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:40037702G>C	uc001rmc.2	+	3	352	c.185G>C	c.(184-186)TGC>TCC	p.C62S	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	62										ovary(6)	6						CAGATATCTTGCAAGAAGAAA	0.294		NaN											0	0	0	1	0	7	38				
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:43826205G>A	uc010skx.1	-	21	2998	c.2998C>T	c.(2998-3000)CGT>TGT	p.R1000C	ADAMTS20_uc001rno.1_Missense_Mutation_p.R154C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R154C	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1000	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCAAGACGATGGCCAAAG	0.433		NaN											0	0	0	1	0	18	70				
LALBA	3906	broad.mit.edu	37	12	48962944	48962944	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:48962944G>C	uc001rrt.2	-	2	239	c.213C>G	c.(211-213)CTC>CTG	p.L71L		NM_002289	NP_002280	P00709	LALBA_HUMAN	lactalbumin, alpha- precursor	71					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity				0						TGATCTGGAAGAGTCCATATT	0.453		NaN											0	0	0	1	0	18	65				
CCNT1	904	broad.mit.edu	37	12	49087241	49087241	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49087241C>G	uc001rse.1	-	9	2079	c.1756G>C	c.(1756-1758)GAT>CAT	p.D586H	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.D301H	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	586	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						GCTGGATGATCAAACACAGCC	0.453		NaN											0	0	0	1	0	21	61				
ADCY6	112	broad.mit.edu	37	12	49164698	49164698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49164698G>A	uc001rsh.3	-	19	3767	c.3107C>T	c.(3106-3108)ACC>ATC	p.T1036I	ADCY6_uc001rsj.3_Missense_Mutation_p.T1036I|ADCY6_uc001rsi.3_Missense_Mutation_p.T983I|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	1036	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						AGCCATGTAGGTGCTACCAAT	0.582		NaN											0	0	0	1	0	30	74				
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49334843C>T	uc001rsr.2	-	2	289	c.36G>A	c.(34-36)CTG>CTA	p.L12L	ARF3_uc010smc.1_Silent_p.L12L	NM_001659	NP_001650	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity				0						TCTTCCCAATCAGGCTCTTGA	0.547		NaN											0	0	0	1	0	53	191				
PRKAG1	5571	broad.mit.edu	37	12	49406883	49406883	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49406883G>C	uc001rsy.2	-	2	89	c.20C>G	c.(19-21)TCA>TGA	p.S7*	uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.S7*|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Nonsense_Mutation_p.S7*	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	7					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1						GGAGCTATCTGAAGAAATGAC	0.423		NaN											0	0	0	1	0	10	48				
MLL2	8085	broad.mit.edu	37	12	49427438	49427438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49427438G>A	uc001rta.3	-	39	11050	c.11050C>T	c.(11050-11052)CAA>TAA	p.Q3684*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3684	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCAGAATGTTGCTGTTGCTGC	0.597		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	1	0	33	112		Valid		
DHH	50846	broad.mit.edu	37	12	49485101	49485101	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49485101C>T	uc001rtf.2	-	2	682	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	125					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						AGCCCTCAGTCACTCGTAGGC	0.597		NaN											0	0	0	1	0	32	76				
PRPH	5630	broad.mit.edu	37	12	49689307	49689307	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49689307C>T	uc001rtu.2	+	1	399	c.324C>T	c.(322-324)TTC>TTT	p.F108F		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	108	Coil 1A.|Rod.						structural molecule activity				0						ACGACCGCTTCGCCAACTTCA	0.682		NaN											0	0	0	1	0	8	13				
MCRS1	10445	broad.mit.edu	37	12	49952459	49952459	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49952459G>C	uc001ruk.1	-	15	1547	c.1356C>G	c.(1354-1356)ATC>ATG	p.I452M	MCRS1_uc001rui.1_Missense_Mutation_p.I465M|MCRS1_uc001ruj.1_Missense_Mutation_p.I439M|MCRS1_uc001rul.1_Missense_Mutation_p.I452M|MCRS1_uc009zlj.1_Missense_Mutation_p.I261M|MCRS1_uc001rum.1_Missense_Mutation_p.I439M	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	452					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						CCTCAGCCCTGATGAGGGCAA	0.607		NaN											0	0	0	1	0	18	71				
PRPF40B	25766	broad.mit.edu	37	12	50035705	50035705	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50035705C>T	uc001rur.1	+	18	1780	c.1716C>T	c.(1714-1716)TGC>TGT	p.C572C	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.C594C|PRPF40B_uc001ruq.1_Intron|PRPF40B_uc001rus.1_Silent_p.C515C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	572					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						GGGGCTTCTGCGTGGAGGTGA	0.577		NaN											0	0	0	1	0	19	79				
ACCN2	41	broad.mit.edu	37	12	50453669	50453669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50453669G>A	uc001rvw.2	+	3	719	c.490G>A	c.(490-492)GAC>AAC	p.D164N	ACCN2_uc001rvv.2_Missense_Mutation_p.D164N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D164N	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	164	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AGCTGGGCACGACATTCGAGA	0.567		NaN											0	0	0	1	0	10	40				
GALNT6	11226	broad.mit.edu	37	12	51773340	51773340	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:51773340G>C	uc001ryk.2	-	2	451	c.226C>G	c.(226-228)CCA>GCA	p.P76A	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.P76A|GALNT6_uc010snh.1_Missense_Mutation_p.P76A	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	76	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						TGGGCTTCTGGAGCCCTGATT	0.562		NaN											0	0	0	1	0	42	91				
KRT6C	286887	broad.mit.edu	37	12	52865855	52865855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:52865855C>T	uc001sal.3	-	2	798	c.750G>A	c.(748-750)AAG>AAA	p.K250K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	250	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCACTTGTTCTTGAGGTCCT	0.547		NaN											0	0	0	1	0	28	97				
PCBP2	5094	broad.mit.edu	37	12	53858606	53858606	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:53858606C>T	uc001sdl.3	+	9	1004	c.654C>T	c.(652-654)CTC>CTT	p.L218L	PCBP2_uc001sdc.3_Silent_p.L218L|PCBP2_uc001sdb.3_Silent_p.L214L|PCBP2_uc001sde.3_Silent_p.L214L|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Silent_p.L175L|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Silent_p.L3L|PCBP2_uc010soh.1_Silent_p.L214L	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	218					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						ccatgtgcctcaaccctgacc	0		NaN											0	0	0	1	0	20	60				
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:54756722C>T	uc001sfu.2	-	2	1004	c.914G>A	c.(913-915)AGA>AAA	p.R305K		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						CGGAGCTCTTCTGGCTCCTTT	0.507		NaN											0	0	0	1	0	50	147				
OR6C74	254783	broad.mit.edu	37	12	55641610	55641610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:55641610C>G	uc010spg.1	+	1	539	c.539C>G	c.(538-540)TCT>TGT	p.S180C		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGTGATGTTTCTCCTATACTG	0.433		NaN											0	0	0	1	0	20	79				
SILV	6490	broad.mit.edu	37	12	56349424	56349424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349424G>C	uc001sip.2	-	9	1617	c.1586C>G	c.(1585-1587)TCA>TGA	p.S529*	SILV_uc001siq.2_Nonsense_Mutation_p.S529*|SILV_uc010spx.1_Nonsense_Mutation_p.S443*|SILV_uc001sir.2_Nonsense_Mutation_p.S529*	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	529	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CCCTGGCGATGAGATCTCCAT	0.597		NaN											0	0	0	1	0	16	86				
SILV	6490	broad.mit.edu	37	12	56349603	56349603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349603C>T	uc001sip.2	-	8	1547	c.1516G>A	c.(1516-1518)GAG>AAG	p.E506K	SILV_uc001siq.2_Missense_Mutation_p.E506K|SILV_uc010spx.1_Missense_Mutation_p.E420K|SILV_uc001sir.2_Missense_Mutation_p.E506K	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	506	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCATCCCCCTCACCGGACGGC	0.537		NaN									OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	19	71				
PAN2	9924	broad.mit.edu	37	12	56722102	56722102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56722102C>T	uc001skx.2	-	4	866	c.493G>A	c.(493-495)GAC>AAC	p.D165N	PAN2_uc001skz.2_Missense_Mutation_p.D165N|PAN2_uc001sky.2_Missense_Mutation_p.D165N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	165					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GTGCTGCTGTCAGTCAGTAGG	0.512		NaN											0	0	0	1	0	50	130				
HSD17B6	8630	broad.mit.edu	37	12	57181045	57181045	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:57181045C>T	uc001smg.1	+	5	983	c.873C>T	c.(871-873)TTC>TTT	p.F291F		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	291					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			upper_aerodigestive_tract(1)|pancreas(1)	2					Succinic acid(DB00139)	AATTTTTCTTCATCCCTCTAT	0.473		NaN											0	0	0	1	0	11	46				
HELB	92797	broad.mit.edu	37	12	66718772	66718772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:66718772G>A	uc001sti.2	+	11	2564	c.2536G>A	c.(2536-2538)GAT>AAT	p.D846N	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	846					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATGTAACTGATGTAACTTT	0.328		NaN											0	0	0	1	0	18	56				
NAV3	89795	broad.mit.edu	37	12	78569172	78569172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:78569172G>C	uc001syp.2	+	25	5241	c.5068G>C	c.(5068-5070)GAT>CAT	p.D1690H	NAV3_uc001syo.2_Missense_Mutation_p.D1690H|NAV3_uc010sub.1_Missense_Mutation_p.D1176H|NAV3_uc009zsf.2_Missense_Mutation_p.D521H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1690						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAGTGGTAATGATGCCGACTC	0.398		NaN								HNSCC(70;0.22)			0	0	0	1	0	6	46				
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:86373294C>G	uc001tai.3	-	8	2460	c.1210G>C	c.(1210-1212)GAT>CAT	p.D404H	MGAT4C_uc001tal.3_Missense_Mutation_p.D404H|MGAT4C_uc001taj.3_Missense_Mutation_p.D404H|MGAT4C_uc001tak.3_Missense_Mutation_p.D404H|MGAT4C_uc010sum.1_Missense_Mutation_p.D428H|MGAT4C_uc001tah.3_Missense_Mutation_p.D404H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	404	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TGCAAAATATCATTTTGCCGA	0.328		NaN											0	0	0	1	0	14	28				
C12orf63	374467	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:97157951C>T	uc001tet.1	+	26	3416	c.3338C>T	c.(3337-3339)TCT>TTT	p.S1113F		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1113										skin(6)|ovary(1)	7						AGAAGTAGTTCTGTTAAAGAA	0.328		NaN											0	0	0	1	0	4	22				
ACTR6	64431	broad.mit.edu	37	12	100612202	100612202	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:100612202G>A	uc001thb.1	+	9	816	c.760G>A	c.(760-762)GAG>AAG	p.E254K	ACTR6_uc001thc.1_Missense_Mutation_p.E146K|ACTR6_uc001thd.1_Missense_Mutation_p.E254K|ACTR6_uc009ztu.1_Missense_Mutation_p.E59K|ACTR6_uc001the.1_Missense_Mutation_p.E172K|ACTR6_uc001thf.1_Missense_Mutation_p.E172K|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	254						cytoplasm|cytoskeleton				ovary(1)	1						GCCAAGGGAAGAGATGGTGTT	0.294		NaN											0	0	0	1	0	7	55				
UTP20	27340	broad.mit.edu	37	12	101684562	101684562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:101684562C>G	uc001tia.1	+	8	943	c.787C>G	c.(787-789)CAA>GAA	p.Q263E	UTP20_uc009ztz.1_Missense_Mutation_p.Q263E	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	263					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AACAGAAACTCAACTACCATG	0.343		NaN											0	0	0	1	0	17	58				
TDG	6996	broad.mit.edu	37	12	104377149	104377149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104377149G>C	uc001tkg.2	+	7	997	c.774G>C	c.(772-774)AAG>AAC	p.K258N	TDG_uc009zuk.2_Missense_Mutation_p.K254N|TDG_uc010swi.1_Missense_Mutation_p.K115N|TDG_uc010swj.1_Missense_Mutation_p.K46N	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	258					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AGCCCCATAAGATTCCAGACA	0.289		NaN						BER_DNA_glycosylases					0	0	0	1	0	7	49				
TXNRD1	7296	broad.mit.edu	37	12	104719163	104719163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104719163C>T	uc010swk.1	+	11	1286	c.1264C>T	c.(1264-1266)CAG>TAG	p.Q422*	TXNRD1_uc010swl.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swm.1_Nonsense_Mutation_p.Q324*|TXNRD1_uc010swn.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swo.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swp.1_Nonsense_Mutation_p.Q234*|TXNRD1_uc010swq.1_Nonsense_Mutation_p.Q322*|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Nonsense_Mutation_p.Q338*	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	422					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						AGTAGTAGCTCAGTCCACCAA	0.383		NaN											0	0	0	1	0	4	16				
TCP11L2	255394	broad.mit.edu	37	12	106729964	106729964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106729964C>G	uc001tln.2	+	8	1289	c.1115C>G	c.(1114-1116)GCT>GGT	p.A372G		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	372										ovary(3)	3						AGGATTTCAGCTGTTCTACTT	0.433		NaN											0	0	0	1	0	14	46				
POLR3B	55703	broad.mit.edu	37	12	106770206	106770206	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106770206G>C	uc001tlp.2	+	7	696	c.474G>C	c.(472-474)CTG>CTC	p.L158L	POLR3B_uc001tlq.2_Silent_p.L100L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	158					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTGCCAAACTGAACGAATGTC	0.368		NaN											0	0	0	1	0	15	59				
VPS29	51699	broad.mit.edu	37	12	110933819	110933819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:110933819C>T	uc001tqy.2	-	2	253	c.193G>A	c.(193-195)GAG>AAG	p.E65K	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E69K|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	65					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						TACATCACCTCATCGAAGTCT	0.403		NaN											0	0	0	1	0	24	50				
FAM109A	144717	broad.mit.edu	37	12	111801049	111801049	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:111801049G>C	uc001tsd.3	-	3	574	c.183C>G	c.(181-183)ATC>ATG	p.I61M	FAM109A_uc009zvu.2_Nonsense_Mutation_p.S42*|FAM109A_uc001tsc.2_Missense_Mutation_p.I84M	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	61	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						CCTCCAGGATGATGACGCCCA	0.701		NaN											0	0	0	1	0	13	49				
RPH3A	22895	broad.mit.edu	37	12	113304639	113304639	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113304639G>A	uc010syl.1	+	7	800	c.438G>A	c.(436-438)CAG>CAA	p.Q146Q	RPH3A_uc001ttz.2_Silent_p.Q146Q|RPH3A_uc001tty.2_Silent_p.Q142Q|RPH3A_uc009zwe.1_Silent_p.Q142Q|RPH3A_uc010sym.1_Silent_p.Q97Q|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	146	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCATTGAGCAGAGGGAGGTGA	0.537		NaN											0	0	0	1	0	9	17				
DDX54	79039	broad.mit.edu	37	12	113599704	113599704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113599704C>T	uc001tup.2	-	18	2322	c.2294G>A	c.(2293-2295)CGA>CAA	p.R765Q	DDX54_uc001tuq.3_Missense_Mutation_p.R765Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	765					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						ATACAGGTCTCGCTTGTAGGA	0.517		NaN											0	0	0	1	0	41	183				
GCN1L1	10985	broad.mit.edu	37	12	120575013	120575013	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120575013C>T	uc001txo.2	-	50	6787	c.6774G>A	c.(6772-6774)AAG>AAA	p.K2258K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2258					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTACCTTCTTCGGGAGGC	0.607		NaN											0	0	0	1	0	32	104				
SFRS9	8683	broad.mit.edu	37	12	120907289	120907289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120907289C>T	uc001tyi.2	-	1	270	c.124G>A	c.(124-126)GAG>AAG	p.E42K	SFRS9_uc009zwy.2_Missense_Mutation_p.E42K|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	42	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCGATCTCGCGGATGCGG	0.493		NaN											0	0	0	1	0	18	57				
RNF10	9921	broad.mit.edu	37	12	121002980	121002980	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121002980G>C	uc001typ.3	+	11	2254	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E502Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	591					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAAACCCTAGAGATGTTCTC	0.428		NaN											0	0	0	1	0	31	84				
CABP1	9478	broad.mit.edu	37	12	121098025	121098025	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121098025G>C	uc001tyu.2	+	3	779	c.712G>C	c.(712-714)GAC>CAC	p.D238H	CABP1_uc001tyv.2_Missense_Mutation_p.D95H|CABP1_uc001tyw.2_Missense_Mutation_p.D35H|CABP1_uc001tyx.2_Missense_Mutation_p.D80H	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	238	1.|EF-hand 1.	Magnesium.		D->A: Loss of magnesium-binding. Loss of binding to ITPRs; when associated with A- 240; A-315; A-317; A-352 and A-354.		cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGAATTCGACAAGGACAA	0.582		NaN											0	0	0	1	0	27	76				
MLEC	9761	broad.mit.edu	37	12	121132759	121132759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121132759G>A	uc001tyy.1	+	3	698	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	183	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						TGTCCAGGGGGAGGTGTCCAC	0.478		NaN											0	0	0	1	0	47	121				
OASL	8638	broad.mit.edu	37	12	121465473	121465473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121465473C>T	uc001tzj.1	-	4	811	c.805G>A	c.(805-807)GAG>AAG	p.E269K	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	269					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTCATACTCCAGGAGCAGG	0.438		NaN											0	0	0	1	0	34	63				
ANAPC5	51433	broad.mit.edu	37	12	121757561	121757561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121757561G>A	uc001uag.2	-	13	1698	c.1576C>T	c.(1576-1578)CAT>TAT	p.H526Y	ANAPC5_uc010szu.1_Missense_Mutation_p.H192Y|ANAPC5_uc001uae.2_Missense_Mutation_p.H90Y|ANAPC5_uc010szv.1_Missense_Mutation_p.H128Y|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.H414Y|ANAPC5_uc001uai.1_Missense_Mutation_p.H128Y	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	526	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGCCAAATGATATTTGCCA	0.333		NaN											0	0	0	1	0	9	16				
WDR66	144406	broad.mit.edu	37	12	122441644	122441644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122441644G>A	uc009zxk.2	+	22	3566	c.3424G>A	c.(3424-3426)GAA>AAA	p.E1142K		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1142							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACCATTTCAGAAGATTCCGG	0.433		NaN											0	0	0	1	0	16	58				
ZCCHC8	55596	broad.mit.edu	37	12	122983381	122983381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122983381G>C	uc001ucn.2	-	2	366	c.235C>G	c.(235-237)CGA>GGA	p.R79G	ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79	Potential.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTCGGTCGAGTCAGAATG	0.294		NaN											0	0	0	1	0	5	14				
ABCB9	23457	broad.mit.edu	37	12	123424766	123424766	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123424766C>T	uc001udm.3	-	9	1945	c.1635G>A	c.(1633-1635)AAG>AAA	p.K545K	ABCB9_uc010tai.1_Silent_p.K152K|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.K502K|ABCB9_uc010taj.1_Silent_p.K482K|ABCB9_uc001udp.2_Silent_p.K545K|ABCB9_uc001udq.2_Silent_p.K264K|ABCB9_uc001udr.2_Silent_p.K545K	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	545	ABC transporter.|ATP (Potential).				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACAGGAGCTCTTCCCACTGC	0.627		NaN											0	0	0	1	0	11	48				
SBNO1	55206	broad.mit.edu	37	12	123821011	123821011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123821011C>T	uc010tap.1	-	5	679	c.679G>A	c.(679-681)GAA>AAA	p.E227K	SBNO1_uc010tao.1_Missense_Mutation_p.E226K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E227K|SBNO1_uc001ueu.2_Missense_Mutation_p.E226K|SBNO1_uc001uev.2_Missense_Mutation_p.E225K|SBNO1_uc009zxy.1_Missense_Mutation_p.E192K	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	227							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tcctctggttcatcatcttct	0.343		NaN											0	0	0	1	0	5	28				
SETD8	387893	broad.mit.edu	37	12	123889520	123889520	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123889520C>T	uc001uew.2	+	7	789	c.747C>T	c.(745-747)CTC>CTT	p.L249L	SETD8_uc001uex.2_Silent_p.L184L	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	290	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACGGGGACCTCATCGAGATCA	0.537		NaN											0	0	0	1	0	17	65				
DNAH10	196385	broad.mit.edu	37	12	124293452	124293452	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:124293452C>T	uc001uft.3	+	18	2767	c.2742C>T	c.(2740-2742)ATC>ATT	p.I914I	DNAH10_uc010tav.1_Silent_p.I456I|DNAH10_uc010taw.1_Silent_p.I399I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAATGAGATCGACAAGATGT	0.468		NaN											0	0	0	1	0	78	266				
EP400	57634	broad.mit.edu	37	12	132502203	132502203	+	Silent	SNP	G	G	A	rs141645142		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:132502203G>A	uc001ujn.2	+	19	4082	c.4047G>A	c.(4045-4047)GCG>GCA	p.A1349A	EP400_uc001ujl.2_Silent_p.A1348A|EP400_uc001ujm.2_Silent_p.A1349A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1385					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGTGGCGGGGCCACTGG	0.582		NaN											0	0	0	1	0	22	77				
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:19748188G>A	uc009zzj.2	-	5	1217	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647		NaN											0	0	0	1	0	44	175				
ZMYM5	9205	broad.mit.edu	37	13	20413042	20413042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:20413042G>A	uc010tcn.1	-	5	935	c.670C>T	c.(670-672)CGT>TGT	p.R224C	ZMYM5_uc001umm.1_Missense_Mutation_p.R48C|ZMYM5_uc001umn.2_Missense_Mutation_p.R224C|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	224						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCTGCTTACGAAGTAAGGCC	0.423		NaN											0	0	0	1	0	48	123				
N6AMT2	221143	broad.mit.edu	37	13	21331662	21331662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:21331662C>G	uc001uno.1	-	2	157	c.76G>C	c.(76-78)GAG>CAG	p.E26Q	N6AMT2_uc009zzr.1_Missense_Mutation_p.E26Q|N6AMT2_uc001unp.2_RNA	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2	26							methyltransferase activity|nucleic acid binding				0		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGCTTTTGCTCAGCATAAAAT	0.408		NaN											0	0	0	1	0	21	59				
SACS	26278	broad.mit.edu	37	13	23913064	23913064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:23913064G>C	uc001uon.2	-	10	5540	c.4951C>G	c.(4951-4953)CAA>GAA	p.Q1651E	SACS_uc001uoo.2_Missense_Mutation_p.Q1504E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1651					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTTCCTGTTGAGTTCTAAAG	0.388		NaN											0	0	0	1	0	13	50				
GSX1	219409	broad.mit.edu	37	13	28367224	28367224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:28367224C>T	uc001urr.1	+	1	445	c.397C>T	c.(397-399)CAC>TAC	p.H133Y		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	133					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGGCAGTTCCACTGCATCTC	0.697		NaN											0	0	0	1	0	6	23				
CSNK1A1L	122011	broad.mit.edu	37	13	37678589	37678589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:37678589C>G	uc001uwm.1	-	1	1213	c.805G>C	c.(805-807)GAG>CAG	p.E269Q		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	269	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGGACTTCCTCAAAGCGCAGC	0.443		NaN											0	0	0	1	0	38	112				
KIAA0564	23078	broad.mit.edu	37	13	42335283	42335283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:42335283C>G	uc001uyj.2	-	21	2477	c.2407G>C	c.(2407-2409)GAA>CAA	p.E803Q	KIAA0564_uc001uyk.2_Missense_Mutation_p.E803Q	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	803						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGAATATATTCTCGGGGTCTG	0.348		NaN											0	0	0	1	0	17	84				
TPT1	7178	broad.mit.edu	37	13	45912831	45912831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45912831C>T	uc001uzy.1	-	5	573	c.480G>A	c.(478-480)ATG>ATA	p.M160I	TPT1_uc001uzz.1_Missense_Mutation_p.M126I|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	160					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TAAAGAAAATCATATATGGGG	0.338		NaN											0	0	0	1	0	15	42				
TPT1	7178	broad.mit.edu	37	13	45914250	45914250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45914250C>G	uc001uzy.1	-	3	265	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	TPT1_uc001uzz.1_Missense_Mutation_p.E24Q|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	58					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCTTCGCCCTCGGGGCCTTCA	0.448		NaN											0	0	0	1	0	22	81				
CPB2	1361	broad.mit.edu	37	13	46658451	46658451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:46658451C>T	uc001vaw.2	-	3	245	c.178G>A	c.(178-180)GAC>AAC	p.D60N	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.D60N	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	60					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACAATAAGGTCAGCTGTTACC	0.378		NaN											0	0	0	1	0	24	53				
ESD	2098	broad.mit.edu	37	13	47356852	47356852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:47356852C>T	uc001vbn.2	-	6	514	c.331G>A	c.(331-333)GAA>AAA	p.E111K	ESD_uc001vbo.2_Missense_Mutation_p.E111K|ESD_uc001vbp.1_5'Flank	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	111						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAAGGATCTTCAGTGGCATCA	0.378		NaN											0	0	0	1	0	18	75				
FNDC3A	22862	broad.mit.edu	37	13	49710506	49710506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:49710506G>C	uc001vcm.2	+	6	834	c.529G>C	c.(529-531)GAA>CAA	p.E177Q	FNDC3A_uc001vcl.1_Missense_Mutation_p.E177Q|FNDC3A_uc001vcn.2_Missense_Mutation_p.E177Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E121Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E121Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	177						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTTAGAGATGAACGATCTAG	0.378		NaN											0	0	0	1	0	12	40				
KCNRG	283518	broad.mit.edu	37	13	50590174	50590174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:50590174C>G	uc001vdu.2	+	1	785	c.545C>G	c.(544-546)TCT>TGT	p.S182C	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.S182C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	182						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CAGTGTGGTTCTGACAGCACT	0.428		NaN											0	0	0	1	0	14	47				
PCDH17	27253	broad.mit.edu	37	13	58207697	58207697	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:58207697C>G	uc001vhq.1	+	1	1909	c.1017C>G	c.(1015-1017)GTC>GTG	p.V339V	PCDH17_uc010aec.1_Silent_p.V339V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	339	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGTCACGGTCAAGCTCATCG	0.642		NaN											0	0	0	1	0	42	108				
DIAPH3	81624	broad.mit.edu	37	13	60584692	60584692	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:60584692C>A	uc001vht.2	-	8	1102	c.883G>T	c.(883-885)GTA>TTA	p.V295L	DIAPH3_uc001vhu.2_Missense_Mutation_p.V32L|DIAPH3_uc001vhw.1_Missense_Mutation_p.V284L|DIAPH3_uc010aed.1_Missense_Mutation_p.V249L|DIAPH3_uc010aee.1_Missense_Mutation_p.V225L|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	295	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACAATGCATACCGCAGAGAGA	0.368		NaN											1	0	0.150653	1	0.15101	4	16				
KLHL1	57626	broad.mit.edu	37	13	70681477	70681477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:70681477G>A	uc001vip.2	-	1	1149	c.355C>T	c.(355-357)CTC>TTC	p.L119F	KLHL1_uc010thm.1_Missense_Mutation_p.L119F|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	119					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGTAGAAGAGAGTCCTGGCT	0.562		NaN											0	0	0	1	0	29	75				
C13orf34	79866	broad.mit.edu	37	13	73321094	73321094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:73321094G>C	uc001viv.1	+	10	1446	c.1327G>C	c.(1327-1329)GAT>CAT	p.D443H	C13orf34_uc010thq.1_Missense_Mutation_p.D218H|C13orf34_uc010aen.1_Missense_Mutation_p.D518H|C13orf34_uc010thr.1_Missense_Mutation_p.D373H|C13orf34_uc001viw.1_Missense_Mutation_p.D392H	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	443					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		AGAGATAGCAGATGAGACCAC	0.413		NaN											0	0	0	1	0	24	87				
LMO7	4008	broad.mit.edu	37	13	76408454	76408454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:76408454G>A	uc001vjv.2	+	14	3218	c.2458G>A	c.(2458-2460)GAG>AAG	p.E820K	LMO7_uc010thv.1_Missense_Mutation_p.E771K|LMO7_uc001vjt.1_Missense_Mutation_p.E719K|LMO7_uc010thw.1_Missense_Mutation_p.E670K|LMO7_uc001vjw.1_Missense_Mutation_p.E726K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1105	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAAGAGTGGGAGGAAGCCAT	0.418		NaN											0	0	0	1	0	29	71				
MYCBP2	23077	broad.mit.edu	37	13	77736073	77736073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:77736073C>G	uc001vkf.2	-	45	6542	c.6451G>C	c.(6451-6453)GAC>CAC	p.D2151H	MYCBP2_uc010aev.2_Missense_Mutation_p.D1555H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCAAGGTCTTCTTCTAAT	0.294		NaN											0	0	0	1	0	11	60				
FARP1	10160	broad.mit.edu	37	13	99037049	99037049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99037049C>T	uc001vnj.2	+	7	898	c.562C>T	c.(562-564)CAG>TAG	p.Q188*	FARP1_uc001vnh.2_Nonsense_Mutation_p.Q188*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	188	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATACATACCTCAGCAAGACGC	0.418		NaN											0	0	0	1	0	8	37				
DOCK9	23348	broad.mit.edu	37	13	99520266	99520266	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99520266C>A	uc001vnt.2	-	29	3149	c.3094_splice	c.e29-1	p.R1032_splice	DOCK9_uc001vnw.2_Splice_Site_p.R1031_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1032_splice|DOCK9_uc010tis.1_Splice_Site_p.R1031_splice|DOCK9_uc010tit.1_Splice_Site_p.R1032_splice|DOCK9_uc010tiq.1_Splice_Site|DOCK9_uc010afu.1_Splice_Site_p.R878_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAACATCTCTGTGGAGGAA	0.408		NaN											1	0	0.0215528	1	0.0216679	4	19				
TM9SF2	9375	broad.mit.edu	37	13	100181787	100181787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:100181787G>A	uc001voj.1	+	4	533	c.400G>A	c.(400-402)GAA>AAA	p.E134K	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	134	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGAGAAAGCTGAAGACAAACA	0.313		NaN											0	0	0	1	0	22	31				
NALCN	259232	broad.mit.edu	37	13	101997647	101997647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:101997647C>G	uc001vox.1	-	7	958	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.E257Q|NALCN_uc001vpa.2_Missense_Mutation_p.E257Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	257	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCCAGCTCTTGCCTGCTA	0.418		NaN											0	0	0	1	0	45	107				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	1	0	3	11				
OR11H12	440153	broad.mit.edu	37	14	19378098	19378098	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:19378098C>T	uc010tkp.1	+	1	505	c.505C>T	c.(505-507)CTG>TTG	p.L169L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	169	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGGATTTCTGTGGTTCCT	0.483		NaN											0	0	0	1	0	11	274				
OR4K2	390431	broad.mit.edu	37	14	20344666	20344666	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20344666G>C	uc001vwh.1	+	1	240	c.240G>C	c.(238-240)AAG>AAC	p.K80N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCCCAAAGATGATTACAG	0.413		NaN											0	0	0	1	0	37	417				
OR4K2	390431	broad.mit.edu	37	14	20345153	20345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20345153C>T	uc001vwh.1	+	1	727	c.727C>T	c.(727-729)CAT>TAT	p.H243Y		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTACAGCTCATTTCATTGT	0.378		NaN											0	0	0	1	0	28	214				
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:21822578C>T	uc001wao.2	-	23	3121	c.2782G>A	c.(2782-2784)GAG>AAG	p.E928K	SUPT16H_uc001wan.2_Missense_Mutation_p.E72K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478		NaN											0	0	0	1	0	8	52				
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23524350G>A	uc001wil.2	-	3	674	c.414C>T	c.(412-414)ATC>ATT	p.I138I	CDH24_uc010akf.2_Silent_p.I138I|CDH24_uc001win.3_Silent_p.I138I	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	138	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587		NaN									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	39	136				
ACIN1	22985	broad.mit.edu	37	14	23548985	23548985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23548985G>C	uc001wit.3	-	6	2061	c.1733C>G	c.(1732-1734)TCT>TGT	p.S578C	ACIN1_uc001wis.3_Missense_Mutation_p.S260C|ACIN1_uc010akg.2_Missense_Mutation_p.S578C|ACIN1_uc010tnj.1_Missense_Mutation_p.S538C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	578	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGACCGGCTAGAGGATGAATC	0.498		NaN											0	0	0	1	0	26	131				
ACIN1	22985	broad.mit.edu	37	14	23549444	23549444	+	Missense_Mutation	SNP	G	G	C	rs151153498		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23549444G>C	uc001wit.3	-	6	1602	c.1274C>G	c.(1273-1275)TCT>TGT	p.S425C	ACIN1_uc001wis.3_Missense_Mutation_p.S107C|ACIN1_uc010akg.2_Missense_Mutation_p.S425C|ACIN1_uc010tnj.1_Missense_Mutation_p.S385C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	425	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGTGGTGGAGAAGATGCTTC	0.517		NaN											0	0	0	1	0	20	65				
MYH6	4624	broad.mit.edu	37	14	23863393	23863393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23863393C>G	uc001wjv.2	-	21	2636	c.2569G>C	c.(2569-2571)GAG>CAG	p.E857Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	857	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCCGAACTCTTCCTTCATG	0.567		NaN											0	0	0	1	0	40	125				
MYH6	4624	broad.mit.edu	37	14	23865621	23865621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23865621G>A	uc001wjv.2	-	20	2368	c.2301C>T	c.(2299-2301)TTC>TTT	p.F767F		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	767	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTGCCTTGAAGAACACCT	0.637		NaN											0	0	0	1	0	22	50				
MYH7	4625	broad.mit.edu	37	14	23899054	23899054	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23899054G>A	uc001wjx.2	-	12	1174	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	356	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAAAGTGCATGATGGCGCCTG	0.562		NaN											0	0	0	1	0	34	99				
DHRS4	10901	broad.mit.edu	37	14	24424331	24424331	+	Silent	SNP	G	G	A	rs142533242		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24424331G>A	uc001wla.2	+	2	249	c.216G>A	c.(214-216)GCG>GCA	p.A72A	C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Silent_p.A72A|DHRS4_uc001wlb.2_Silent_p.A72A|DHRS4_uc010akz.2_Silent_p.A72A|DHRS4_uc001wlc.3_Silent_p.A72A|DHRS4L2_uc001wld.3_Silent_p.A72A|DHRS4L2_uc001wle.3_Silent_p.A72A	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	72						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGGACCAGGCGGTGGCCACGC	0.692		NaN											0	0	0	1	0	36	112				
ADCY4	196883	broad.mit.edu	37	14	24800506	24800506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24800506C>G	uc001wov.2	-	5	732	c.726G>C	c.(724-726)GAG>GAC	p.E242D	ADCY4_uc001wow.2_Missense_Mutation_p.E242D|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.E242D|ADCY4_uc001woy.2_Missense_Mutation_p.E242D	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GTGCCATGATCTCTGCCTTCA	0.552		NaN											0	0	0	1	0	30	92				
ADCY4	196883	broad.mit.edu	37	14	24801006	24801006	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24801006C>T	uc001wov.2	-	4	663	c.657G>A	c.(655-657)GAG>GAA	p.E219E	ADCY4_uc001wow.2_Silent_p.E219E|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.E219E|ADCY4_uc001woy.2_Silent_p.E219E	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	219	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGTGCTTCTTCTCGGTGTCCA	0.458		NaN											0	0	0	1	0	11	27				
NYNRIN	57523	broad.mit.edu	37	14	24880396	24880396	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24880396G>A	uc001wpf.3	+	5	2847	c.2529G>A	c.(2527-2529)AAG>AAA	p.K843K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	843					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						AGCTGAAGAAGAACCGGAGGG	0.592		NaN									OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	40	144				
HECTD1	25831	broad.mit.edu	37	14	31572252	31572252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31572252G>C	uc001wrc.1	-	41	7909	c.7420C>G	c.(7420-7422)CCA>GCA	p.P2474A	HECTD1_uc001wra.1_Missense_Mutation_p.P600A|HECTD1_uc001wrb.1_Missense_Mutation_p.P600A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2474	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCTCCATTGGAAAAACTTTA	0.358		NaN											0	0	0	1	0	15	47				
HECTD1	25831	broad.mit.edu	37	14	31602831	31602831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602831C>A	uc001wrc.1	-	23	4118	c.3629G>T	c.(3628-3630)TGG>TTG	p.W1210L	HECTD1_uc001wrd.1_Missense_Mutation_p.W725L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACATGTCTCCACCCTTGTTT	0.363		NaN											1	0	0.00307968	1	0.00310906	8	38				
HECTD1	25831	broad.mit.edu	37	14	31602844	31602844	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602844C>G	uc001wrc.1	-	23	4105	c.3616G>C	c.(3616-3618)GAG>CAG	p.E1206Q	HECTD1_uc001wrd.1_Missense_Mutation_p.E721Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTGTTTCTCATCCTTTGGT	0.363		NaN											0	0	0	1	0	7	24				
HEATR5A	25938	broad.mit.edu	37	14	31849763	31849763	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31849763C>A	uc001wrf.3	-	5	816	c.739G>T	c.(739-741)GAT>TAT	p.D247Y	HEATR5A_uc010ami.2_Missense_Mutation_p.D145Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.D129Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.D540Y	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	534							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACAGCAAATCCTCTGCTAAT	0.358		NaN											1	0	2.0095e-06	1	2.06813e-06	6	17				
MIPOL1	145282	broad.mit.edu	37	14	37777576	37777576	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:37777576G>A	uc001wuc.2	+	10	1183	c.680G>A	c.(679-681)AGA>AAA	p.R227K	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.R196K|MIPOL1_uc001wud.2_Missense_Mutation_p.R227K|MIPOL1_uc010ams.2_Missense_Mutation_p.R227K|MIPOL1_uc001wue.2_Missense_Mutation_p.R196K|MIPOL1_uc010amt.2_Missense_Mutation_p.R46K	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	227										ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTACTGAACAGAATAAACAAT	0.308		NaN											0	0	0	1	0	20	50				
SSTR1	6751	broad.mit.edu	37	14	38679239	38679239	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:38679239C>T	uc001wul.1	+	3	1262	c.645C>T	c.(643-645)CCC>CCT	p.P215P	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	215	Extracellular (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCAGAGCCCGCTCAACGCT	0.607		NaN											0	0	0	1	0	26	81				
PPIL5	122769	broad.mit.edu	37	14	50074583	50074583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:50074583G>A	uc001wwn.2	+	3	1072	c.748G>A	c.(748-750)GAA>AAA	p.E250K	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.E191K|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	250	LRR 5.										0	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCAGCTCCAGGAACTTAAGAA	0.403		NaN											0	0	0	1	0	11	47				
GCH1	2643	broad.mit.edu	37	14	55310749	55310749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55310749G>A	uc001xbh.1	-	6	900	c.739C>T	c.(739-741)CTC>TTC	p.L247F	GCH1_uc001xbi.1_Missense_Mutation_p.L247F|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	247					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			skin(1)	1						CTCCTAATGAGAGTCAGGAAC	0.483		NaN											0	0	0	1	0	34	87				
KIAA0831	22863	broad.mit.edu	37	14	55852644	55852644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55852644G>A	uc001xbx.1	-	5	616	c.580C>T	c.(580-582)CGA>TGA	p.R194*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R81*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	194					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						TGGGATCGTCGAAGATTTGCC	0.408		NaN											0	0	0	1	0	8	30				
RTN1	6252	broad.mit.edu	37	14	60193729	60193729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60193729G>A	uc001xen.1	-	3	1882	c.1673C>T	c.(1672-1674)TCG>TTG	p.S558L	RTN1_uc001xem.1_Missense_Mutation_p.S138L	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	558					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGAACTCGAGTCTTCTTC	0.622		NaN											0	0	0	1	0	9	38				
PPM1A	5494	broad.mit.edu	37	14	60750112	60750112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60750112G>A	uc010apn.2	+	3	1093	c.691G>A	c.(691-693)GAT>AAT	p.D231N	PPM1A_uc001xew.3_Missense_Mutation_p.D304N|PPM1A_uc001xex.3_Missense_Mutation_p.D231N|PPM1A_uc001xey.3_Missense_Mutation_p.D231N	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	231					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGAAGAAGATGATCAGTTCAT	0.413		NaN											0	0	0	1	0	43	96				
SYT16	83851	broad.mit.edu	37	14	62463153	62463153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:62463153C>G	uc001xfu.1	+	1	613	c.416C>G	c.(415-417)TCT>TGT	p.S139C	SYT16_uc010tsd.1_Missense_Mutation_p.S139C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	139										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGCTTTCTTCTATTGCGGAG	0.478		NaN											0	0	0	1	0	39	119				
SYNE2	23224	broad.mit.edu	37	14	64529564	64529564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64529564C>T	uc001xgm.2	+	50	10393	c.10163C>T	c.(10162-10164)TCG>TTG	p.S3388L	SYNE2_uc001xgl.2_Missense_Mutation_p.S3388L|SYNE2_uc010apw.1_Missense_Mutation_p.S94L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3388	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCATGTCCTCGTTGCCACTG	0.398		NaN											0	0	0	1	0	13	33				
SYNE2	23224	broad.mit.edu	37	14	64542728	64542728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64542728C>G	uc001xgm.2	+	54	11162	c.10932C>G	c.(10930-10932)ATC>ATG	p.I3644M	SYNE2_uc001xgl.2_Missense_Mutation_p.I3644M|SYNE2_uc010apy.2_Missense_Mutation_p.I6M|SYNE2_uc010apw.1_Missense_Mutation_p.I350M|SYNE2_uc010apx.1_Missense_Mutation_p.I36M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3644	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGCGAATCAAGTATTCCG	0.368		NaN											0	0	0	1	0	8	19				
FNTB	2342	broad.mit.edu	37	14	65521359	65521359	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:65521359C>T	uc001xia.2	+	11	1299	c.1134C>T	c.(1132-1134)AGC>AGT	p.S378S	FNTB_uc010tsl.1_Silent_p.S412S|FNTB_uc010tsm.1_Silent_p.S332S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.S134S|FNTB_uc010tso.1_Silent_p.S293S	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	378					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTTCGGCAGCGGAGCCATGT	0.612		NaN											0	0	0	1	0	8	28				
RDH12	145226	broad.mit.edu	37	14	68196080	68196080	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68196080G>C	uc001xjz.3	+	8	1155	c.831G>C	c.(829-831)CTG>CTC	p.L277L		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	277					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGGAGCCCCTGAGTGGCAAGT	0.637		NaN											0	0	0	1	0	25	81				
ZFYVE26	23503	broad.mit.edu	37	14	68217796	68217796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68217796G>C	uc001xka.2	-	41	7528	c.7389C>G	c.(7387-7389)ATC>ATG	p.I2463M	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.I309M	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2463					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATTGCCTGGATCAGGCCCT	0.552		NaN											0	0	0	1	0	24	60				
C14orf181	400223	broad.mit.edu	37	14	69262700	69262700	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:69262700G>A	uc001xkj.1	-	1	491	c.312C>T	c.(310-312)CTC>CTT	p.L104L	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		AGGCCGAGGCGAGGCGTGCGT	0.761		NaN											0	0	0	1	0	4	24				
ADAM20	8748	broad.mit.edu	37	14	70989717	70989717	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:70989717G>A	uc001xme.2	-	2	2153	c.1908C>T	c.(1906-1908)CTC>CTT	p.L636L		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	586	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGTGTCATTGAGGTGAAACT	0.448		NaN											0	0	0	1	0	35	87				
HEATR4	399671	broad.mit.edu	37	14	73987670	73987670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:73987670C>T	uc010tub.1	-	4	1277	c.955G>A	c.(955-957)GAA>AAA	p.E319K	HEATR4_uc010tua.1_Missense_Mutation_p.E272K	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCGTCTTTTCATGGATATCC	0.517		NaN											0	0	0	1	0	26	76				
C14orf43	91748	broad.mit.edu	37	14	74203808	74203808	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203808C>G	uc001xot.2	-	3	2425	c.1642G>C	c.(1642-1644)GAT>CAT	p.D548H	C14orf43_uc001xou.2_Missense_Mutation_p.D548H|C14orf43_uc010tud.1_Missense_Mutation_p.D548H|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CCGTCCTCATCAAGACCTCCA	0.607		NaN											0	0	0	1	0	33	72				
C14orf43	91748	broad.mit.edu	37	14	74203900	74203900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203900C>T	uc001xot.2	-	3	2333	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q	C14orf43_uc001xou.2_Missense_Mutation_p.R517Q|C14orf43_uc010tud.1_Missense_Mutation_p.R517Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ACTGTCTTCTCGTGCTCGCTT	0.552		NaN											0	0	0	1	0	15	52				
COQ6	51004	broad.mit.edu	37	14	74428472	74428472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74428472G>C	uc001xph.2	+	11	1323	c.1243G>C	c.(1243-1245)GAA>CAA	p.E415Q	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.E340Q|COQ6_uc001xpf.2_Missense_Mutation_p.E340Q|COQ6_uc010tuk.1_Missense_Mutation_p.E390Q|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	415					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATGAAACAGAAAGACAGCG	0.483		NaN											0	0	0	1	0	56	160				
C14orf115	55237	broad.mit.edu	37	14	74824374	74824374	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74824374C>G	uc001xpw.3	+	2	1079	c.888C>G	c.(886-888)TTC>TTG	p.F296L		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	296					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		AAAGCACCTTCTACCGCTGGC	0.647		NaN											0	0	0	1	0	33	89				
MLH3	27030	broad.mit.edu	37	14	75513113	75513113	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75513113C>T	uc001xrd.1	-	2	3462	c.3246G>A	c.(3244-3246)CTG>CTA	p.L1082L	MLH3_uc001xre.1_Silent_p.L1082L|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1082					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCACAGTTGTCAGGTCTTTAG	0.438		NaN						MMR					0	0	0	1	0	25	75				
MLH3	27030	broad.mit.edu	37	14	75514904	75514904	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75514904C>T	uc001xrd.1	-	2	1671	c.1455G>A	c.(1453-1455)GAG>GAA	p.E485E	MLH3_uc001xre.1_Silent_p.E485E|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	485					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTATGTTTCTCATTTTCTC	0.363		NaN						MMR					0	0	0	1	0	28	78				
NEK9	91754	broad.mit.edu	37	14	75563842	75563842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75563842C>T	uc001xrl.2	-	17	2288	c.2134G>A	c.(2134-2136)GAC>AAC	p.D712N	NEK9_uc001xrk.2_Missense_Mutation_p.D212N	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	712	RCC1 6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAGACAGGTCCGGGACATGA	0.522		NaN											0	0	0	1	0	12	45				
FLVCR2	55640	broad.mit.edu	37	14	76045555	76045555	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76045555G>A	uc001xrs.2	+	1	616	c.240G>A	c.(238-240)GTG>GTA	p.V80V		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	80					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGATCAAGGTGAGCAGGCGCC	0.597		NaN											0	0	0	1	0	43	141				
C14orf118	55668	broad.mit.edu	37	14	76638345	76638345	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76638345C>G	uc001xsh.2	+	4	973	c.887C>G	c.(886-888)TCT>TGT	p.S296C	C14orf118_uc001xsi.2_Missense_Mutation_p.S296C|C14orf118_uc001xsj.1_Missense_Mutation_p.S296C|C14orf118_uc001xsk.1_Missense_Mutation_p.S296C|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	296										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CTTTTACCTTCTCGGCCAGCT	0.443		NaN											0	0	0	1	0	22	57				
C14orf4	64207	broad.mit.edu	37	14	77493965	77493965	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77493965C>T	uc001xsy.2	-	1	1070	c.171G>A	c.(169-171)CTG>CTA	p.L57L		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	57						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GCGCCCGCTTCAGCTGGCGCG	0.502		NaN											0	0	0	1	0	9	18				
TMEM63C	57156	broad.mit.edu	37	14	77706018	77706018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77706018C>T	uc001xtf.2	+	12	1091	c.879C>T	c.(877-879)ATC>ATT	p.I293I	TMEM63C_uc010asq.1_Silent_p.I293I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	293						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGATCAGGATCCACCCCTGTG	0.612		NaN											0	0	0	1	0	13	33				
POMT2	29954	broad.mit.edu	37	14	77746776	77746776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77746776C>T	uc001xti.2	-	16	1885	c.1684G>A	c.(1684-1686)GAG>AAG	p.E562K	POMT2_uc001xth.1_Missense_Mutation_p.E260K	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	562					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GACGTGAACTCATTGTCCTTG	0.532		NaN											0	0	0	1	0	30	64				
SPTLC2	9517	broad.mit.edu	37	14	78063675	78063675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:78063675C>T	uc001xub.2	-	2	369	c.181G>A	c.(181-183)GAA>AAA	p.E61K		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	61				EAFE -> TLAR (in Ref. 5; AAC50871).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAAAGCTTCATTAAACGGT	0.383		NaN											0	0	0	1	0	8	46				
PTPN21	11099	broad.mit.edu	37	14	88945337	88945337	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:88945337G>C	uc001xwv.3	-	13	2769	c.2438C>G	c.(2437-2439)TCT>TGT	p.S813C	PTPN21_uc010twc.1_Missense_Mutation_p.S609C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	813						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TTTCTTCAGAGAGTCCCTCCG	0.662		NaN											0	0	0	1	0	42	110				
EML5	161436	broad.mit.edu	37	14	89131686	89131686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:89131686G>A	uc001xxg.2	-	23	3458	c.3272C>T	c.(3271-3273)TCA>TTA	p.S1091L	EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Missense_Mutation_p.S230L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1091	WD 18.					cytoplasm|microtubule				ovary(3)	3						CTTACCAGGTGAAAATCGAAT	0.333		NaN											0	0	0	1	0	6	18				
TTC7B	145567	broad.mit.edu	37	14	91282539	91282539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91282539G>A	uc001xyp.2	-	1	223	c.101C>T	c.(100-102)TCG>TTG	p.S34L		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	34							binding			ovary(2)	2		Melanoma(154;0.222)				GAGCTTGGCCGACAGCTGCTT	0.418		NaN											0	0	0	1	0	10	39				
RPS6KA5	9252	broad.mit.edu	37	14	91372534	91372534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91372534G>A	uc001xys.2	-	8	1131	c.916C>T	c.(916-918)CCA>TCA	p.P306S	RPS6KA5_uc010twi.1_Missense_Mutation_p.P227S|RPS6KA5_uc001xyt.2_Missense_Mutation_p.P306S|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	306	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCATCACGTGGACCACATCCC	0.408		NaN											0	0	0	1	0	12	69				
ATXN3	4287	broad.mit.edu	37	14	92560118	92560118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:92560118C>G	uc001yac.3	-	4	361	c.292G>C	c.(292-294)GAG>CAG	p.E98Q	ATXN3_uc010aug.2_Missense_Mutation_p.E83Q|ATXN3_uc001yad.3_Missense_Mutation_p.E43Q|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	98	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTCTGATACTCTGGACTGTTG	0.333		NaN											0	0	0	1	0	15	62				
KIAA1409	57578	broad.mit.edu	37	14	94044269	94044269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:94044269C>T	uc001ybv.1	+	15	1845	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	KIAA1409_uc001ybs.1_Missense_Mutation_p.R588W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	765						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGTCCGTTTCGGAGTCCTTT	0.448		NaN											0	0	0	1	0	37	168				
EML1	2009	broad.mit.edu	37	14	100405533	100405533	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405533G>T	uc001ygs.2	+	21	2261	c.2192_splice	c.e21-1	p.G731_splice	EML1_uc010tww.1_Splice_Site_p.G719_splice|EML1_uc001ygr.2_Splice_Site_p.G750_splice	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTTTGTTTTAGGAGTGTGGCC	0.572		NaN											1	0	1.02788e-11	1	1.07753e-11	16	77				
EML1	2009	broad.mit.edu	37	14	100405640	100405640	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405640C>G	uc001ygs.2	+	21	2367	c.2298C>G	c.(2296-2298)TTC>TTG	p.F766L	EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	766	WD 10.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCACCTCTTCTCATACCCCT	0.537		NaN											0	0	0	1	0	20	67				
BEGAIN	57596	broad.mit.edu	37	14	101005143	101005143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005143G>A	uc010txa.1	-	6	1091	c.945C>T	c.(943-945)GCC>GCT	p.A315A	BEGAIN_uc001yhp.2_Silent_p.A251A|BEGAIN_uc001yhq.2_Silent_p.A315A	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	315						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				TCAGCGTGCTGGCCTGCGCGT	0.672		NaN											0	0	0	1	0	9	17				
BEGAIN	57596	broad.mit.edu	37	14	101005461	101005461	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005461G>A	uc010txa.1	-	6	773	c.627C>T	c.(625-627)TTC>TTT	p.F209F	BEGAIN_uc001yhp.2_Silent_p.F145F|BEGAIN_uc001yhq.2_Silent_p.F209F	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	209						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CCCCGTCGCAGAAGGCCAGGT	0.692		NaN											0	0	0	1	0	10	29				
PLD4	122618	broad.mit.edu	37	14	105397102	105397102	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105397102C>T	uc001ypu.1	+	7	882	c.741C>T	c.(739-741)ATC>ATT	p.I247I	PLD4_uc010tyl.1_Silent_p.I254I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	247					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCGCTGTCATCTATAACTGCA	0.617		NaN											0	0	0	1	0	39	119				
AHNAK2	113146	broad.mit.edu	37	14	105410848	105410848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105410848G>T	uc010axc.1	-	7	11060	c.10940C>A	c.(10939-10941)TCA>TAA	p.S3647*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S3547*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3647						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TACCCTGAATGACGGCATCTT	0.587		NaN											1	0	1.07134e-49	1	1.14723e-49	85	307				
AHNAK2	113146	broad.mit.edu	37	14	105415185	105415185	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105415185G>A	uc010axc.1	-	7	6723	c.6603C>T	c.(6601-6603)CTC>CTT	p.L2201L	AHNAK2_uc001ypx.2_Silent_p.L2101L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2201						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.637		NaN											0	0	0	1	0	78	135				
MAGEL2	54551	broad.mit.edu	37	15	23889330	23889330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:23889330C>T	uc001ywj.3	-	1	1846	c.1751G>A	c.(1750-1752)CGA>CAA	p.R584Q		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGAATGCTCGAGGGCCCCA	0.512		NaN											0	0	0	1	0	23	51				
APBA2	321	broad.mit.edu	37	15	29367150	29367150	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:29367150G>A	uc001zck.2	+	4	1185	c.978G>A	c.(976-978)AGG>AGA	p.R326R	APBA2_uc010azj.2_Silent_p.R326R|APBA2_uc010uat.1_Silent_p.R326R|APBA2_uc001zcl.2_Silent_p.R326R|APBA2_uc001zcm.1_Silent_p.R30R	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	326					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCAGCCAAGGAAGCAGCAGC	0.418		NaN											0	0	0	1	0	13	28				
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:30659650C>T	uc001zdt.1	-	9	1257	c.691G>A	c.(691-693)GAC>AAC	p.D231N	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.D140N|CHRFAM7A_uc010azn.2_Missense_Mutation_p.D140N	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	231						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGG	0.597		NaN											0	0	0	1	0	12	68				
MTMR10	54893	broad.mit.edu	37	15	31239356	31239356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31239356G>A	uc001zfh.1	-	14	1623	c.1525C>T	c.(1525-1527)CAC>TAC	p.H509Y	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.H90Y|MTMR10_uc010azx.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfi.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfj.2_Missense_Mutation_p.H427Y|MTMR10_uc001zfk.2_Missense_Mutation_p.H261Y	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	509	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACTCGCTGGTGAGGGGAGTTG	0.473		NaN											0	0	0	1	0	31	109				
TRPM1	4308	broad.mit.edu	37	15	31360134	31360134	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31360134G>A	uc001zfm.2	-	4	503	c.375C>T	c.(373-375)ATC>ATT	p.I125I	TRPM1_uc010azy.2_Silent_p.I38I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	125	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAGCAGCCTTGATCAGGCCTT	0.547		NaN											0	0	0	1	0	38	131				
RYR3	6263	broad.mit.edu	37	15	34061318	34061318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:34061318G>A	uc001zhi.2	+	62	8831	c.8761G>A	c.(8761-8763)GAT>AAT	p.D2921N	RYR3_uc010bar.2_Missense_Mutation_p.D2921N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2921	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGGTAGTGATTCTACTAC	0.438		NaN											0	0	0	1	0	24	67				
C15orf54	400360	broad.mit.edu	37	15	39544555	39544555	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:39544555G>C	uc001zkg.2	+	2	587	c.219G>C	c.(217-219)ATG>ATC	p.M73I		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	73											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGTCAGAAATGACTTTCAGGG	0.423		NaN											0	0	0	1	0	66	144				
DISP2	85455	broad.mit.edu	37	15	40655912	40655912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:40655912C>T	uc001zlk.1	+	2	295	c.206C>T	c.(205-207)TCT>TTT	p.S69F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	69					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTTCCAGCTCTTCAGGACCC	0.637		NaN											0	0	0	1	0	48	149				
UBR1	197131	broad.mit.edu	37	15	43294805	43294805	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:43294805G>A	uc001zqq.2	-	32	3673	c.3607C>T	c.(3607-3609)CTG>TTG	p.L1203L		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1203					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTATTGCACAGAGATTTGCAA	0.343		NaN											0	0	0	1	0	14	72				
DUT	1854	broad.mit.edu	37	15	48623792	48623792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:48623792G>C	uc001zws.2	+	1	172	c.80G>C	c.(79-81)CGA>CCA	p.R27P	DUT_uc001zwt.2_Intron|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_5'Flank|DUT_uc001zww.2_5'Flank|uc010ben.1_RNA	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	27					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CAAAACGCGCGAGGCGCACGG	0.701		NaN						Modulation_of_nucleotide_pools					0	0	0	1	0	3	12				
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:50769684G>A	uc001zym.3	+	11	1706	c.1206G>A	c.(1204-1206)AAG>AAA	p.K402K	USP8_uc001zyk.1_Silent_p.K103K|USP8_uc001zyl.3_Silent_p.K402K|USP8_uc001zyn.3_Silent_p.K402K|USP8_uc010ufh.1_Silent_p.K325K|USP8_uc010bev.1_Silent_p.K31K	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.284		NaN											0	0	0	1	0	20	81				
DMXL2	23312	broad.mit.edu	37	15	51783938	51783938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:51783938G>C	uc002abf.2	-	20	5015	c.4790C>G	c.(4789-4791)TCT>TGT	p.S1597C	DMXL2_uc010ufy.1_Missense_Mutation_p.S1597C|DMXL2_uc010bfa.2_Missense_Mutation_p.S961C	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1597						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ATGGCATGTAGAGACACCTAA	0.363		NaN											0	0	0	1	0	30	77				
GNB5	10681	broad.mit.edu	37	15	52416714	52416714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:52416714C>T	uc002abt.1	-	12	1197	c.1132G>A	c.(1132-1134)GAT>AAT	p.D378N	GNB5_uc002abr.1_Missense_Mutation_p.D336N|GNB5_uc002abs.1_Missense_Mutation_p.D266N	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	378	WD 7.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)		GCAGTCCCATCGGGGGAAACT	0.498		NaN											0	0	0	1	0	18	65				
MYO1E	4643	broad.mit.edu	37	15	59466040	59466040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59466040C>G	uc002aga.2	-	21	2611	c.2239G>C	c.(2239-2241)GGG>CGG	p.G747R	MIR2116_hsa-mir-2116|MI0010635_5'Flank	NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	747					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TCTTCCATCCCAATATAATCC	0.458		NaN											0	0	0	1	0	55	182				
GCNT3	9245	broad.mit.edu	37	15	59910809	59910809	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59910809G>A	uc002age.2	+	3	821	c.372G>A	c.(370-372)CTG>CTA	p.L124L	GCNT3_uc002agd.2_Silent_p.L124L	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	124	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						AGTTCCCACTGAGCAAAGAAG	0.473		NaN											0	0	0	1	0	20	58				
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59911184G>A	uc002age.2	+	3	1196	c.747G>A	c.(745-747)AGG>AGA	p.R249R	GCNT3_uc002agd.2_Silent_p.R249R	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	249	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						TGAATGGGAGGAATAGCATGG	0.458		NaN											0	0	0	1	0	58	139				
RORA	6095	broad.mit.edu	37	15	60789729	60789729	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:60789729C>T	uc002agv.2	-	12	1752	c.1596G>A	c.(1594-1596)GTG>GTA	p.V532V	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.V444V|RORA_uc002agw.2_Silent_p.V524V|RORA_uc002agx.2_Silent_p.V499V	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	532	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AATGAAGTCGCACAATGTCTG	0.378		NaN											0	0	0	1	0	10	44				
HERC1	8925	broad.mit.edu	37	15	63916468	63916468	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:63916468G>T	uc002amp.2	-	72	13482	c.13334C>A	c.(13333-13335)CCT>CAT	p.P4445H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4445					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGCTAACAAAGGCCGAAGTTG	0.453		NaN											1	0	5.60225e-13	1	5.88375e-13	31	75				
CILP	8483	broad.mit.edu	37	15	65497670	65497670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65497670C>T	uc002aon.2	-	5	740	c.559G>A	c.(559-561)GAG>AAG	p.E187K		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	187	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCGCTGGCCTCACTGCACAGC	0.617		NaN											0	0	0	1	0	33	97				
PTPLAD1	51495	broad.mit.edu	37	15	65847289	65847289	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65847289G>A	uc002apc.2	+	3	343	c.195G>A	c.(193-195)GTG>GTA	p.V65V	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Silent_p.V65V	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	65	CS.|Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						TAGACCTTGTGAAACCAGAGG	0.413		NaN											0	0	0	1	0	39	115				
CLN6	54982	broad.mit.edu	37	15	68503654	68503654	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68503654G>A	uc002arf.2	-	5	647	c.489C>T	c.(487-489)ATC>ATT	p.I163I	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I195I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	163					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						CAAAGGAGTCGATCTGAGGGA	0.602		NaN											0	0	0	1	0	28	99				
ITGA11	22801	broad.mit.edu	37	15	68609618	68609618	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68609618G>A	uc002ari.2	-	21	2787	c.2700C>T	c.(2698-2700)TTC>TTT	p.F900F	ITGA11_uc010bib.2_Silent_p.F900F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	900	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCTTGGCCCGGAAGAAGGGAT	0.602		NaN											0	0	0	1	0	26	112				
PARP6	56965	broad.mit.edu	37	15	72558264	72558264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:72558264G>C	uc002auc.2	-	4	609	c.150C>G	c.(148-150)ATC>ATG	p.I50M	PARP6_uc002aua.2_Translation_Start_Site|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.I50M	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	50							NAD+ ADP-ribosyltransferase activity				0						TCTCACTGTAGATCTCCTTCA	0.498		NaN											0	0	0	1	0	15	56				
HCN4	10021	broad.mit.edu	37	15	73624577	73624577	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:73624577G>A	uc002avp.2	-	3	2260	c.1266C>T	c.(1264-1266)ATC>ATT	p.I422I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	422	Helical; Name=Segment S5; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GCATCATGCCGATGAGGTTCA	0.592		NaN											0	0	0	1	0	16	74				
SIN3A	25942	broad.mit.edu	37	15	75715054	75715054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75715054C>G	uc002bai.2	-	3	559	c.300G>C	c.(298-300)CAG>CAC	p.Q100H	SIN3A_uc002baj.2_Missense_Mutation_p.Q100H|SIN3A_uc010uml.1_Missense_Mutation_p.Q100H|SIN3A_uc002bak.3_Missense_Mutation_p.Q100H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	100					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						GAGCATGACTCTGGACCACCT	0.562		NaN											0	0	0	1	0	60	117				
PTPN9	5780	broad.mit.edu	37	15	75798209	75798209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75798209C>T	uc002bal.2	-	7	1283	c.775G>A	c.(775-777)GAT>AAT	p.D259N		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	259						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TCGAAGGGATCTGGGTGGCCG	0.532		NaN											0	0	0	1	0	18	54				
FBXO22	26263	broad.mit.edu	37	15	76196329	76196329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76196329G>A	uc002bbk.2	+	1	130	c.25G>A	c.(25-27)GAG>AAG	p.E9K	FBXO22_uc002bbj.1_Missense_Mutation_p.E9K|FBXO22_uc002bbl.2_5'UTR	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	9				VGCCGECR -> AGACGGP (in Ref. 5; AAF04523).	ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CTGCTGCGGCGAGTGCCGCGG	0.677		NaN											0	0	0	1	0	5	7				
SCAPER	49855	broad.mit.edu	37	15	76994204	76994204	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76994204G>A	uc002bby.2	-	19	2462	c.2403C>T	c.(2401-2403)ATC>ATT	p.I801I	SCAPER_uc010bkr.2_Silent_p.I109I|SCAPER_uc002bbx.2_Silent_p.I555I|SCAPER_uc002bbz.1_Silent_p.I672I|SCAPER_uc002bca.1_Silent_p.I666I	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	800	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CCTCTGAAGAGATCTGAAAGC	0.378		NaN											0	0	0	1	0	8	31				
CRABP1	1381	broad.mit.edu	37	15	78635840	78635840	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:78635840G>A	uc002bdp.2	+	3	355	c.250_splice	c.e3-1	p.S84_splice		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1						multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	CCCGCCTGCAGAGTTTAGCCA	0.493		NaN											0	0	0	1	0	8	46				
KIAA1199	57214	broad.mit.edu	37	15	81199101	81199101	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81199101G>A	uc002bfw.1	+	12	1769	c.1509G>A	c.(1507-1509)GAG>GAA	p.E503E	KIAA1199_uc010unn.1_Silent_p.E503E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	503										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGATGGGGGAGATGGAGGACA	0.527		NaN											0	0	0	1	0	19	62				
TMC3	342125	broad.mit.edu	37	15	81660670	81660670	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81660670C>T	uc002bgo.1	-	3	237	c.237_splice	c.e3-1	p.R79_splice	TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.2_Splice_Site_p.R79_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3							integral to membrane				ovary(1)|liver(1)	2						CTTCGCTTGTCTAAGAGAAGA	0.423		NaN											0	0	0	1	0	58	195				
ACAN	176	broad.mit.edu	37	15	89400090	89400090	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89400090G>C	uc010upo.1	+	12	4648	c.4274G>C	c.(4273-4275)GGA>GCA	p.G1425A	ACAN_uc010upp.1_Missense_Mutation_p.G1425A|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1425					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACTGCCCCTGGAGTAGATGAG	0.532		NaN											0	0	0	1	0	73	202				
ACAN	176	broad.mit.edu	37	15	89417171	89417171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417171G>C	uc010upo.1	+	17	7806	c.7432G>C	c.(7432-7434)GAG>CAG	p.E2478Q	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2478					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGCACAGAGGGGTTTGT	0.642		NaN											0	0	0	1	0	8	39				
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417256G>T	uc010upo.1	+	17	7890	c.7516_splice	c.e17+1	p.P2506_splice	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Splice_Site	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor						cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657		NaN											1	0	3.27435e-08	1	3.40091e-08	15	36				
CHD2	1106	broad.mit.edu	37	15	93527668	93527668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:93527668G>C	uc002bsp.2	+	25	3750	c.3175G>C	c.(3175-3177)GAG>CAG	p.E1059Q	CHD2_uc002bso.1_Missense_Mutation_p.E1059Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1059	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAGGAGGAAGAGCGGCAGAA	0.408		NaN											0	0	0	1	0	4	26				
CEMP1	752014	broad.mit.edu	37	16	2581056	2581056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:2581056C>T	uc002cqr.2	-	1	375	c.19G>A	c.(19-21)GAC>AAC	p.D7N		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	7						cytoplasm				skin(1)	1						TGCTGGCTGTCAGTGCTTGAT	0.617		NaN											0	0	0	1	0	16	73				
CLDN6	9074	broad.mit.edu	37	16	3065463	3065463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3065463G>T	uc002csu.3	-	2	620	c.560C>A	c.(559-561)TCG>TAG	p.S187*		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGACCCCCCCGAGGGGCAAGT	0.652		NaN											1	0	1.37285e-15	1	1.44903e-15	16	53				
ZSCAN10	84891	broad.mit.edu	37	16	3139503	3139503	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3139503G>A	uc002ctv.1	-	5	1855	c.1767C>T	c.(1765-1767)AGC>AGT	p.S589S	ZSCAN10_uc002cty.1_Silent_p.S250S|ZSCAN10_uc002ctw.1_Silent_p.S507S|ZSCAN10_uc002ctx.1_Silent_p.S517S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	589	C2H2-type 10.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGGCGCTCTGGCTGAAGCCCT	0.697		NaN											0	0	0	1	0	10	43				
C16orf90	646174	broad.mit.edu	37	16	3543964	3543964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3543964C>G	uc002cvi.2	-	3	424	c.424G>C	c.(424-426)GAC>CAC	p.D142H		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	132											0						GCACCCTTGTCTGGGTCCATG	0.632		NaN											0	0	0	1	0	11	17				
MGRN1	23295	broad.mit.edu	37	16	4674988	4674988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4674988C>G	uc002cwz.2	+	1	163	c.27C>G	c.(25-27)ATC>ATG	p.I9M	MGRN1_uc002cxa.2_Missense_Mutation_p.I9M|MGRN1_uc010btx.2_Missense_Mutation_p.I9M|MGRN1_uc010btw.2_Missense_Mutation_p.I9M|MGRN1_uc002cxb.2_Missense_Mutation_p.I9M|MGRN1_uc010uxo.1_Missense_Mutation_p.I9M|MGRN1_uc010uxp.1_Missense_Mutation_p.I9M|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	9					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GCCGCCGCATCGCGGGGGTGG	0.736		NaN											0	0	0	1	0	3	14				
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4945714G>A	uc002cyd.1	-	10	1066	c.976C>T	c.(976-978)CAC>TAC	p.H326Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	326	Potential.|Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGTCTTCGTGAAACTAGGGG	0.582		NaN											0	0	0	1	0	38	97				
USP7	7874	broad.mit.edu	37	16	8997182	8997182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:8997182G>C	uc002czl.2	-	16	1981	c.1782C>G	c.(1780-1782)TTC>TTG	p.F594L	USP7_uc010uyk.1_Missense_Mutation_p.F495L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.F495L|USP7_uc002czk.2_Missense_Mutation_p.F578L|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	594					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TCAATACTTTGAACACAGTGT	0.473		NaN											0	0	0	1	0	14	57				
RRN3	54700	broad.mit.edu	37	16	15157071	15157071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15157071G>C	uc002dde.2	-	17	1844	c.1776C>G	c.(1774-1776)TTC>TTG	p.F592L	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F460L|RRN3_uc010uzq.1_Missense_Mutation_p.F562L	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	592	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						TGGGTTTCTTGAACTCCTGTA	0.403		NaN											0	0	0	1	0	33	115				
KIAA0430	9665	broad.mit.edu	37	16	15718642	15718642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15718642G>A	uc002ddr.2	-	10	2447	c.2254C>T	c.(2254-2256)CAG>TAG	p.Q752*	KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q608*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q748*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q750*	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	751						peroxisome	nucleotide binding|RNA binding				0						GACCAAGACTGAGATGCGAGC	0.393		NaN											0	0	0	1	0	28	97				
MYH11	4629	broad.mit.edu	37	16	15835629	15835629	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15835629C>T	uc002ddy.2	-	21	2747	c.2640G>A	c.(2638-2640)CAG>CAA	p.Q880Q	MYH11_uc002ddv.2_Silent_p.Q887Q|MYH11_uc002ddw.2_Silent_p.Q880Q|MYH11_uc002ddx.2_Silent_p.Q887Q|MYH11_uc010bvg.2_Silent_p.Q712Q	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	880	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGAGTGCTTCTGTTCCAGCT	0.612		NaN	T	CBFB	AML								0	0	0	1	0	86	245				
ABCC1	4363	broad.mit.edu	37	16	16184358	16184358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:16184358C>T	uc010bvi.2	+	19	2732	c.2557C>T	c.(2557-2559)CAG>TAG	p.Q853*	ABCC1_uc010bvj.2_Nonsense_Mutation_p.Q794*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.Q797*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.Q853*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.Q738*|ABCC1_uc002del.3_Nonsense_Mutation_p.Q737*	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	853	ABC transporter 1.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCTCCTACCAGGAGCTGCT	0.607		NaN											0	0	0	1	0	8	37				
XYLT1	64131	broad.mit.edu	37	16	17211612	17211612	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:17211612C>T	uc002dfa.2	-	11	2533	c.2448G>A	c.(2446-2448)CTG>CTA	p.L816L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	816	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CCCCAGGCCTCAGGGGCAAGT	0.552		NaN											0	0	0	1	0	13	77				
ERN2	10595	broad.mit.edu	37	16	23703600	23703600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23703600G>C	uc002dma.3	-	18	2466	c.2297C>G	c.(2296-2298)TCT>TGT	p.S766C	ERN2_uc010bxp.2_Missense_Mutation_p.S714C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	718	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCCACCAGAAAGCACGTA	0.567		NaN											0	0	0	1	0	32	104				
CHP2	63928	broad.mit.edu	37	16	23767007	23767007	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23767007G>A	uc002dmb.1	+	2	516	c.93G>A	c.(91-93)CTG>CTA	p.L31L		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	31	EF-hand 1.						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)		TGCTCCGCCTGCACCACCGGT	0.637		NaN											0	0	0	1	0	22	87				
GTF3C1	2975	broad.mit.edu	37	16	27544708	27544708	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:27544708C>T	uc002dov.1	-	5	793	c.753G>A	c.(751-753)AGG>AGA	p.R251R	GTF3C1_uc002dou.2_Silent_p.R251R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	251						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATTTGCTCCTCCTGCAAGAAA	0.448		NaN											0	0	0	1	0	21	57				
XPO6	23214	broad.mit.edu	37	16	28167708	28167708	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28167708G>T	uc002dpa.1	-	7	1285	c.784C>A	c.(784-786)CTG>ATG	p.L262M	XPO6_uc002dpb.1_Missense_Mutation_p.L248M|XPO6_uc010vcp.1_Missense_Mutation_p.L262M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	262					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CTGGCAGACAGAGGAATCCAA	0.517		NaN											1	0	2.37509e-13	1	2.49598e-13	22	92				
SULT1A2	6799	broad.mit.edu	37	16	28603660	28603660	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28603660C>T	uc002dqg.1	-	7	1050	c.699G>A	c.(697-699)AAG>AAA	p.K233K	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.K233K	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TAGGGTTCTTCTTCATCTCCT	0.567		NaN											0	0	0	1	0	46	182				
SH2B1	25970	broad.mit.edu	37	16	28883708	28883708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28883708C>T	uc002dri.2	+	9	2150	c.1711C>T	c.(1711-1713)CAG>TAG	p.Q571*	uc010vct.1_Intron|SH2B1_uc010vdc.1_Nonsense_Mutation_p.Q261*|SH2B1_uc002drj.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drk.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drl.2_Nonsense_Mutation_p.Q571*|SH2B1_uc010vdd.1_Nonsense_Mutation_p.Q235*|SH2B1_uc010vde.1_Nonsense_Mutation_p.Q571*|SH2B1_uc002drm.2_Nonsense_Mutation_p.Q571*	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	571	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CTTCAACTTCCAGGGCAAGGC	0.617		NaN											0	0	0	1	0	20	60				
SRCAP	10847	broad.mit.edu	37	16	30750601	30750601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:30750601G>C	uc002dze.1	+	34	9625	c.9240G>C	c.(9238-9240)AAG>AAC	p.K3080N	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K2875N	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3080					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GAGGACGGAAGAGTGGAGGGT	0.587		NaN											0	0	0	1	0	16	48		Valid		
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31087769G>A	uc002eap.2	+	2	413	c.124G>A	c.(124-126)GAC>AAC	p.D42N	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGAGGAGGCTGACAGCATCCC	0.632		NaN											0	0	0	1	0	48	117				
ITGAM	3684	broad.mit.edu	37	16	31283172	31283172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31283172C>G	uc002ebq.2	+	7	661	c.563C>G	c.(562-564)TCT>TGT	p.S188C	ITGAM_uc002ebr.2_Missense_Mutation_p.S188C	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	188	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CCGCAGTTCTCTTTGATGCAG	0.517		NaN											0	0	0	1	0	16	46				
VPS35	55737	broad.mit.edu	37	16	46694412	46694412	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:46694412C>T	uc002eef.3	-	17	2462	c.2363G>A	c.(2362-2364)GGG>GAG	p.G788E	VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.G749E	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	788					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAAATTGGCCCCTCGGATTC	0.438		NaN											0	0	0	1	0	20	84				
ABCC12	94160	broad.mit.edu	37	16	48162609	48162609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48162609G>A	uc002efc.1	-	9	1622	c.1276C>T	c.(1276-1278)CAA>TAA	p.Q426*	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Nonsense_Mutation_p.Q426*	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	426						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTCTGGTTGGGTGATGTAA	0.413		NaN											0	0	0	1	0	27	90				
LONP2	83752	broad.mit.edu	37	16	48290643	48290643	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48290643G>A	uc002efi.1	+	3	680	c.591G>A	c.(589-591)GAG>GAA	p.E197E	LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	197	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GCAACAAAGAGAAACTCCAGG	0.393		NaN											0	0	0	1	0	15	55				
CHD9	80205	broad.mit.edu	37	16	53352146	53352146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:53352146G>A	uc002ehb.2	+	36	7771	c.7607G>A	c.(7606-7608)AGA>AAA	p.R2536K	CHD9_uc002egy.2_Missense_Mutation_p.R2520K|CHD9_uc002ehc.2_Missense_Mutation_p.R2521K|CHD9_uc002ehf.2_Missense_Mutation_p.R1634K|CHD9_uc010cbw.2_Missense_Mutation_p.R602K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2536					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CATGAGGGAAGACCCAAACAA	0.338		NaN											0	0	0	1	0	3	22				
CAPNS2	84290	broad.mit.edu	37	16	55601337	55601337	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:55601337C>G	uc002eid.1	+	1	754	c.669C>G	c.(667-669)TTC>TTG	p.F223L	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	223	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding				0						TTCGTGCCTTCAAGTCTCTGG	0.443		NaN											0	0	0	1	0	58	153				
OGFOD1	55239	broad.mit.edu	37	16	56485527	56485527	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56485527G>T	uc002ejb.2	+	1	104	c.3G>T	c.(1-3)ATG>ATT	p.M1I	OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	1							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	GGGAAGAGATGAATGGGAAGC	0.587		NaN											1	0	5.20006e-24	1	5.54389e-24	42	177				
HERPUD1	9709	broad.mit.edu	37	16	56970630	56970630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56970630C>G	uc002eke.1	+	4	741	c.332C>G	c.(331-333)TCT>TGT	p.S111C	HERPUD1_uc010vhj.1_Missense_Mutation_p.S172C|HERPUD1_uc002ekf.1_Missense_Mutation_p.S110C|HERPUD1_uc002ekg.1_Missense_Mutation_p.S86C|HERPUD1_uc010cco.1_Missense_Mutation_p.S172C|HERPUD1_uc010ccp.1_Missense_Mutation_p.S171C|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	111	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						CCTGCTGGTTCTAATCGGGGA	0.453		NaN	T	ERG	prostate								0	0	0	1	0	14	53				
GPR97	222487	broad.mit.edu	37	16	57710248	57710248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:57710248C>T	uc002emh.2	+	3	446	c.343C>T	c.(343-345)CAG>TAG	p.Q115*	GPR97_uc010cdc.2_Nonsense_Mutation_p.Q115*|GPR97_uc010vhv.1_Intron|GPR97_uc010cdd.2_RNA	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	115	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GGAGCCCTCTCAGGTGAAGAG	0.473		NaN											0	0	0	1	0	23	67				
RLTPR	146206	broad.mit.edu	37	16	67681650	67681650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67681650G>C	uc002etn.2	+	12	1059	c.939G>C	c.(937-939)CAG>CAC	p.Q313H	RLTPR_uc010cel.1_Missense_Mutation_p.Q313H|RLTPR_uc010vjr.1_Missense_Mutation_p.Q313H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	313	LRR 5.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTGGCCCAGACAGGGTTGA	0.657		NaN											0	0	0	1	0	4	12				
RLTPR	146206	broad.mit.edu	37	16	67683002	67683002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67683002C>G	uc002etn.2	+	18	1735	c.1615C>G	c.(1615-1617)CTG>GTG	p.L539V	RLTPR_uc010cel.1_Missense_Mutation_p.L532V|RLTPR_uc010vjr.1_Missense_Mutation_p.L503V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	539	LRR 11.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATGGTGACTCTGGTGCTGGC	0.617		NaN											0	0	0	1	0	14	25				
NUTF2	10204	broad.mit.edu	37	16	67899100	67899100	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67899100G>C	uc002eup.2	+	2	166	c.67G>C	c.(67-69)GAT>CAT	p.D23H	NUTF2_uc010vkf.1_Missense_Mutation_p.D23H	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	23	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGTTATTTGATAATGATAG	0.493		NaN											0	0	0	1	0	16	49				
PRMT7	54496	broad.mit.edu	37	16	68386284	68386284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68386284C>T	uc002evy.1	+	15	1823	c.1547C>T	c.(1546-1548)TCG>TTG	p.S516L	PRMT7_uc002evx.1_Missense_Mutation_p.S442L|PRMT7_uc010vlg.1_Missense_Mutation_p.S466L|PRMT7_uc002evz.1_Missense_Mutation_p.S288L|PRMT7_uc010cfd.1_Missense_Mutation_p.S8L	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	516					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGCAGCCTCGCTGCACGCT	0.617		NaN											0	0	0	1	0	27	81				
CDH3	1001	broad.mit.edu	37	16	68721569	68721569	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68721569C>T	uc002ewf.2	+	12	2857	c.1725C>T	c.(1723-1725)CAC>CAT	p.H575H	CDH3_uc010vli.1_Silent_p.H520H	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	575	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTCTCCCCACACCTCCCCTT	0.597		NaN											0	0	0	1	0	23	91				
TMCO7	79613	broad.mit.edu	37	16	68961944	68961944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68961944G>C	uc002ewi.3	+	13	2613	c.2601G>C	c.(2599-2601)CAG>CAC	p.Q867H		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	867						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GGATAGAGCAGAGAGAAGCAA	0.463		NaN											0	0	0	1	0	5	9				
HYDIN	54768	broad.mit.edu	37	16	70975573	70975573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:70975573C>T	uc002ezr.2	-	43	6944	c.6816G>A	c.(6814-6816)ATG>ATA	p.M2272I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2273	Potential.									ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTGGGCCTTCATGGCTGCGT	0.527		NaN											0	0	0	1	0	30	119				
TAT	6898	broad.mit.edu	37	16	71610277	71610277	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71610277G>C	uc002fap.2	-	2	141	c.42C>G	c.(40-42)CTC>CTG	p.L14L	TAT_uc002faq.2_Silent_p.L14L|TAT_uc002far.2_Silent_p.L14L	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	14					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GAATTGAGGGGAGGTTGCCTT	0.527		NaN											0	0	0	1	0	20	76				
PHLPP2	23035	broad.mit.edu	37	16	71718466	71718466	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71718466G>A	uc002fax.2	-	4	654	c.648C>T	c.(646-648)TTC>TTT	p.F216F	PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Silent_p.F216F|PHLPP2_uc002fay.1_Silent_p.F216F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	216	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CTGCTGAGCTGAAAGCAAGGG	0.468		NaN											0	0	0	1	0	22	77				
HP	3240	broad.mit.edu	37	16	72094738	72094738	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72094738G>A	uc002fbr.3	+	7	1214	c.1170G>A	c.(1168-1170)GTG>GTA	p.V390V	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.V331V|HP_uc002fbt.3_Silent_p.V331V|HP_uc002fbu.1_Silent_p.V128V|HP_uc002fbv.3_Silent_p.V301V|HP_uc002fbw.3_Silent_p.V212V|HP_uc002fbx.3_Silent_p.V212V|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	390	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGTGTATGTGAAGGTGACTT	0.522		NaN											0	0	0	1	0	37	131				
ZFHX3	463	broad.mit.edu	37	16	72828402	72828402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72828402C>A	uc002fck.2	-	9	8852	c.8179G>T	c.(8179-8181)GAG>TAG	p.E2727*	ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E1813*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2727	C2H2-type 20.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATATGAGCCTCAAGAGCAGTC	0.562		NaN											1	0	9.90768e-06	1	1.01352e-05	26	87				
CNTNAP4	85445	broad.mit.edu	37	16	76587302	76587302	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:76587302G>A	uc002feu.1	+	24	3950	c.3565G>A	c.(3565-3567)GAC>AAC	p.D1189N	CNTNAP4_uc002fev.1_Missense_Mutation_p.D1053N|CNTNAP4_uc010chb.1_Missense_Mutation_p.D1116N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D1192N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1189	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						CAGCCACCCAGACCCTGTCAC	0.607		NaN											0	0	0	1	0	7	23				
ADAMTS18	170692	broad.mit.edu	37	16	77353980	77353980	+	Silent	SNP	C	C	T	rs149346461	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:77353980C>T	uc002ffc.3	-	16	2717	c.2298G>A	c.(2296-2298)CCG>CCA	p.P766P	ADAMTS18_uc010chc.1_Silent_p.P354P|ADAMTS18_uc002ffe.1_Silent_p.P462P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	766	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGAGGACCACCGGATAATATT	0.473		NaN											0	0	0	1	0	6	67				
MAF	4094	broad.mit.edu	37	16	79633490	79633490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:79633490C>T	uc002ffn.2	-	1	1133	c.310G>A	c.(310-312)GAG>AAG	p.E104K	MAF_uc002ffm.2_Missense_Mutation_p.E104K	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	104					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCAGCGCCTCGGGGTTCAGC	0.706		NaN	T	IGH@	MM								0	0	0	1	0	4	20				
C16orf46	123775	broad.mit.edu	37	16	81095596	81095596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81095596C>T	uc002fgc.3	-	4	617	c.358G>A	c.(358-360)GAG>AAG	p.E120K	C16orf46_uc010chf.2_Missense_Mutation_p.E120K|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	120											0						GGGCCCCCCTCAGTAGGAGGC	0.607		NaN											0	0	0	1	0	44	155				
PKD1L2	114780	broad.mit.edu	37	16	81198281	81198281	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81198281G>A	uc002fgh.1	-	20	3313	c.3313C>T	c.(3313-3315)CTG>TTG	p.L1105L	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1105	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCGCCCTCCAGAGAGCTGAGG	0.488		NaN											0	0	0	1	0	27	89				
MBTPS1	8720	broad.mit.edu	37	16	84129320	84129320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84129320G>C	uc002fhi.2	-	4	1014	c.512C>G	c.(511-513)TCT>TGT	p.S171C		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	171					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCAGAAGCCAGAGCCCAGGGA	0.617		NaN											0	0	0	1	0	32	128				
TAF1C	9013	broad.mit.edu	37	16	84215615	84215615	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84215615C>T	uc002fhn.2	-	8	999	c.771G>A	c.(769-771)GGG>GGA	p.G257G	TAF1C_uc002fhm.2_Silent_p.G190G|TAF1C_uc010vnx.1_Silent_p.G257G|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.G257G	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	257					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						GTCCAGGTTTCCCAAGGAATT	0.547		NaN											0	0	0	1	0	39	119				
CRISPLD2	83716	broad.mit.edu	37	16	84883009	84883009	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84883009C>T	uc010voh.1	+	4	605	c.378C>T	c.(376-378)TTC>TTT	p.F126F	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F126F|CRISPLD2_uc002fim.2_Silent_p.F126F|CRISPLD2_uc002fin.3_Silent_p.F126F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	126						extracellular region|transport vesicle					0						CTCCGGGGTTCCATGTGCAGT	0.637		NaN											0	0	0	1	0	13	59				
ZC3H18	124245	broad.mit.edu	37	16	88694373	88694373	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88694373G>C	uc002fky.2	+	15	2515	c.2315G>C	c.(2314-2316)AGG>ACG	p.R772T	ZC3H18_uc010voz.1_Missense_Mutation_p.R796T|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.R42T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	772						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAGCGGAAAAGGGATTCGTCC	0.547		NaN											0	0	0	1	0	35	96				
TRAPPC2L	51693	broad.mit.edu	37	16	88926377	88926377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88926377C>G	uc002fmc.2	+	4	424	c.371C>G	c.(370-372)TCC>TGC	p.S124C	TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.S124C|TRAPPC2L_uc002fme.3_Missense_Mutation_p.S94C|TRAPPC2L_uc002fmf.2_Missense_Mutation_p.S93C|uc002fmg.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	124					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGCATCCAGTCCAGGTGGGCC	0.502		NaN											0	0	0	1	0	36	79				
C16orf7	9605	broad.mit.edu	37	16	89777028	89777028	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89777028C>T	uc002fom.1	-	10	1349	c.1224G>A	c.(1222-1224)CTG>CTA	p.L408L	C16orf7_uc002fol.1_Silent_p.L338L|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	408					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCGCGGTCTTCAGCTGCTGCA	0.657		NaN											0	0	0	1	0	15	40				
GAS8	2622	broad.mit.edu	37	16	90106743	90106743	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:90106743C>T	uc002fqi.1	+	9	1169	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F	GAS8_uc010vps.1_Silent_p.F324F|GAS8_uc002fqh.2_Silent_p.F266F|GAS8_uc010vpv.1_Silent_p.F320F|GAS8_uc010cjc.1_Silent_p.F266F|GAS8_uc010vpw.1_Silent_p.F266F|GAS8_uc002fqj.1_Silent_p.F157F|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	349	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ATCGGAAGTTCACCGCAGCCA	0.622		NaN											0	0	0	1	0	4	15				
YWHAE	7531	broad.mit.edu	37	17	1257622	1257622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1257622C>G	uc002fsj.2	-	5	750	c.598G>C	c.(598-600)GAT>CAT	p.D200H	YWHAE_uc002fsk.2_Missense_Mutation_p.D178H|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	200					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATTGCATCATCAAAAGCTGCT	0.353		NaN											0	0	0	1	0	13	29				
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1478943G>C	uc002fsv.2	-	14	1754	c.1665C>G	c.(1663-1665)CTC>CTG	p.L555L	SLC43A2_uc002fsu.2_Silent_p.L559L	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	555					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617		NaN											0	0	0	1	0	8	33				
WDR81	124997	broad.mit.edu	37	17	1639411	1639411	+	Missense_Mutation	SNP	G	G	A	rs141513894	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1639411G>A	uc002fti.2	+	9	1984	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	WDR81_uc002fth.2_Missense_Mutation_p.V751M|WDR81_uc010vqp.1_Missense_Mutation_p.V599M|WDR81_uc002ftj.2_Missense_Mutation_p.V1802M|WDR81_uc010vqq.1_Missense_Mutation_p.V433M	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	575										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGTAGTGTCGTGGCCGGCTT	0.667		NaN											0	0	0	1	0	28	68				
WDR81	124997	broad.mit.edu	37	17	1640893	1640893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1640893G>A	uc002fti.2	+	10	2320	c.2059G>A	c.(2059-2061)GGC>AGC	p.G687S	WDR81_uc002fth.2_Missense_Mutation_p.G863S|WDR81_uc010vqp.1_Missense_Mutation_p.G711S|WDR81_uc002ftj.2_Missense_Mutation_p.G1914S|WDR81_uc010vqq.1_Missense_Mutation_p.G545S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	687										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAACTTCCGCGGCACGCTCAC	0.632		NaN											0	0	0	1	0	23	64				
PAFAH1B1	5048	broad.mit.edu	37	17	2575996	2575996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:2575996C>T	uc002fuw.3	+	7	1184	c.616C>T	c.(616-618)CAT>TAT	p.H206Y	PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.H35Y	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	206	WD 3.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						CAATGGAGATCATATAGTGTC	0.353		NaN											0	0	0	1	0	17	50				
ZZEF1	23140	broad.mit.edu	37	17	3926119	3926119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3926119G>A	uc002fxe.2	-	44	7160	c.7096C>T	c.(7096-7098)CAC>TAC	p.H2366Y	ZZEF1_uc002fxh.2_Missense_Mutation_p.H680Y|ZZEF1_uc002fxi.2_Missense_Mutation_p.H601Y	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2366							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAAAACCGTGAGCCTGCCAA	0.423		NaN											0	0	0	1	0	13	53				
ZZEF1	23140	broad.mit.edu	37	17	3945848	3945848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3945848C>G	uc002fxe.2	-	39	6245	c.6181G>C	c.(6181-6183)GAA>CAA	p.E2061Q	ZZEF1_uc002fxh.2_Missense_Mutation_p.E375Q|ZZEF1_uc002fxi.2_Missense_Mutation_p.E296Q|ZZEF1_uc002fxj.1_Missense_Mutation_p.E674Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2061							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATGACACTTCTGAATCTTCA	0.448		NaN											0	0	0	1	0	22	63				
PELP1	27043	broad.mit.edu	37	17	4574817	4574817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4574817C>T	uc002fyi.3	-	17	3536	c.3310G>A	c.(3310-3312)GAC>AAC	p.D1104N	PELP1_uc010vsf.1_Missense_Mutation_p.D880N	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1104					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GCAGCTGTGTCATCCTGCTCC	0.512		NaN											0	0	0	1	0	7	33				
INCA1	388324	broad.mit.edu	37	17	4891776	4891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4891776G>A	uc002gaj.2	-	8	1087	c.635C>T	c.(634-636)TCG>TTG	p.S212L	CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.S212L|INCA1_uc002gal.2_Missense_Mutation_p.S197L|INCA1_uc002gam.2_Missense_Mutation_p.S197L	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein	212						nucleus					0						AGTGCTGAACGAGGCCAGAGA	0.567		NaN											0	0	0	1	0	26	74				
SLC13A5	284111	broad.mit.edu	37	17	6589554	6589554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6589554C>T	uc002gdj.2	-	12	1767	c.1679G>A	c.(1678-1680)TGG>TAG	p.W560*	SLC13A5_uc010vtf.1_Nonsense_Mutation_p.W514*|SLC13A5_uc010clq.2_Nonsense_Mutation_p.W517*|SLC13A5_uc002gdk.2_Nonsense_Mutation_p.W543*	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	560						integral to membrane	citrate transmembrane transporter activity				0						CACATTAGCCCAGTCAGGGAA	0.473		NaN											0	0	0	1	0	36	126				
FBXO39	162517	broad.mit.edu	37	17	6683407	6683407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6683407G>A	uc010vtg.1	+	2	340	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	74										ovary(1)|skin(1)	2						ACATGCATCTGAAGTTGAGTC	0.463		NaN											0	0	0	1	0	34	112				
KCTD11	147040	broad.mit.edu	37	17	7256927	7256927	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256927C>G	uc002gge.3	+	1	1720	c.666C>G	c.(664-666)CTC>CTG	p.L222L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	222					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				AAGACCTGCTCAACTCCAGGT	0.602		NaN											0	0	0	1	0	19	44				
KCTD11	147040	broad.mit.edu	37	17	7256940	7256940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256940C>G	uc002gge.3	+	1	1733	c.679C>G	c.(679-681)CTG>GTG	p.L227V	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	227					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CTCCAGGTCTCTGCGCTTTGT	0.592		NaN											0	0	0	1	0	18	42				
TMEM95	339168	broad.mit.edu	37	17	7258907	7258907	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7258907G>A	uc002ggh.1	+	2	199	c.172G>A	c.(172-174)GAG>AAG	p.E58K	TMEM95_uc002ggf.1_Missense_Mutation_p.E58K|TMEM95_uc002ggg.1_Missense_Mutation_p.E58K	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	58	Extracellular (Potential).					integral to membrane					0		Prostate(122;0.173)				CTCCACAGATGAGGTGTCCAT	0.547		NaN											0	0	0	1	0	4	6				
DNAH2	146754	broad.mit.edu	37	17	7700820	7700820	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7700820C>T	uc002giu.1	+	51	8066	c.8052C>T	c.(8050-8052)CTC>CTT	p.L2684L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2684					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCATCATCTCTGTCCCAGCA	0.532		NaN											0	0	0	1	0	47	183				
DNAH2	146754	broad.mit.edu	37	17	7733673	7733673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7733673C>T	uc002giu.1	+	77	11923	c.11909C>T	c.(11908-11910)TCC>TTC	p.S3970F	DNAH2_uc010cnm.1_Missense_Mutation_p.S908F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3970	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACAGTTTTCCCGCTGCTCC	0.463		NaN											0	0	0	1	0	21	97				
CYB5D1	124637	broad.mit.edu	37	17	7762898	7762898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7762898C>G	uc002gjb.3	+	4	1044	c.655C>G	c.(655-657)CTG>GTG	p.L219V	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	219							heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TGCAATACTTCTGTACTTCAA	0.448		NaN											0	0	0	1	0	30	80				
ARHGEF15	22899	broad.mit.edu	37	17	8222686	8222686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8222686C>T	uc002glc.2	+	14	2364	c.2243C>T	c.(2242-2244)TCC>TTC	p.S748F	ARHGEF15_uc002gld.2_Missense_Mutation_p.S748F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S637F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	748					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTCCCTGCTCCCCAGACACC	0.552		NaN											0	0	0	1	0	62	178				
PIK3R5	23533	broad.mit.edu	37	17	8814740	8814740	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8814740G>A	uc002glt.2	-	2	139	c.72C>T	c.(70-72)CTC>CTT	p.L24L	PIK3R5_uc010vuz.1_Silent_p.L24L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.L24L|PIK3R5_uc010cob.1_Intron	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	24					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGCTGAGGCTGAGTCCATGCA	0.672		NaN											0	0	0	1	0	20	67				
NTN1	9423	broad.mit.edu	37	17	8926117	8926117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8926117G>A	uc002glw.3	+	2	534	c.427G>A	c.(427-429)GAA>AAA	p.E143K		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	143	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						CAAGAAGTTCGAAGTGACCTA	0.607		NaN											0	0	0	1	0	7	30				
MAP2K4	6416	broad.mit.edu	37	17	12032537	12032537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:12032537C>A	uc002gnj.2	+	9	1042	c.973C>A	c.(973-975)CCT>ACT	p.P325T	MAP2K4_uc002gnk.2_Missense_Mutation_p.P336T|MAP2K4_uc010vvi.1_Missense_Mutation_p.P207T|MAP2K4_uc010vvj.1_Missense_Mutation_p.P197T	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	325	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAAAGGAGATCCTCCGCAGCT	0.433		NaN	D|Mis|N		pancreatic|breast|colorectal								1	0	4.7546e-09	1	4.94748e-09	14	34				
COX10	1352	broad.mit.edu	37	17	13980182	13980182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:13980182C>T	uc002gof.3	+	3	512	c.308C>T	c.(307-309)TCA>TTA	p.S103L	COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	103					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGACCTCTCTCACCGCCCAGC	0.428		NaN											0	0	0	1	0	11	61				
CCDC144A	9720	broad.mit.edu	37	17	16612513	16612513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:16612513C>T	uc002gqk.1	+	5	1218	c.1142C>T	c.(1141-1143)TCT>TTT	p.S381F	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	381											0						CATCCATACTCTGGGTCCCAG	0.373		NaN											0	0	0	1	0	16	58				
TOM1L2	146691	broad.mit.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:17772713G>A	uc002grz.3	-	8	1009	c.852C>T	c.(850-852)GTC>GTT	p.V284V	TOM1L2_uc002gry.3_Silent_p.V234V|TOM1L2_uc010vwy.1_Silent_p.V231V|TOM1L2_uc010cpr.2_Silent_p.V239V|TOM1L2_uc010vwz.1_Silent_p.V136V|TOM1L2_uc010vxa.1_Silent_p.V186V|TOM1L2_uc010vxb.1_Silent_p.V234V|TOM1L2_uc002grv.3_Silent_p.V17V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	284	GAT.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527		NaN											0	0	0	1	0	20	70				
SHMT1	6470	broad.mit.edu	37	17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:18232688G>C	uc002gta.2	-	11	1376	c.1186C>G	c.(1186-1188)CTG>GTG	p.L396V	SHMT1_uc002gsz.2_Missense_Mutation_p.L171V|SHMT1_uc002gtb.2_Missense_Mutation_p.L357V|SHMT1_uc010cqb.2_Intron|SHMT1_uc010vxt.1_Missense_Mutation_p.L258V	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512		NaN											0	0	0	1	0	11	37				
VTN	7448	broad.mit.edu	37	17	26697287	26697287	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:26697287G>C	uc002hbc.2	-	1	87	c.-62C>G	c.(-64--60)ATCAG>ATGAG		SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor						cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCTCCGCTCTGATGCCTGAGG	0.597		NaN											0	0	0	1	0	16	36				
CRYBA1	1411	broad.mit.edu	37	17	27579109	27579109	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:27579109C>T	uc002hdw.2	+	4	250	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	81	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATACCAGCTTCTGTGGGCAAC	0.502		NaN									OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	28	95				
EFCAB5	374786	broad.mit.edu	37	17	28380803	28380803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:28380803G>C	uc002het.2	+	10	2023	c.1831G>C	c.(1831-1833)GAG>CAG	p.E611Q	EFCAB5_uc010wbi.1_Missense_Mutation_p.E354Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E555Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E268Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E490Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E490Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	611							calcium ion binding			ovary(1)|skin(1)	2						GTCACGCAGAGAGTCTATTGC	0.478		NaN											0	0	0	1	0	54	140				
AP2B1	163	broad.mit.edu	37	17	33977735	33977735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:33977735C>T	uc002hjr.2	+	13	1912	c.1723C>T	c.(1723-1725)CAT>TAT	p.H575Y	AP2B1_uc002hjq.2_Missense_Mutation_p.H575Y|AP2B1_uc010wci.1_Missense_Mutation_p.H537Y|AP2B1_uc002hjs.2_Missense_Mutation_p.H518Y|AP2B1_uc002hjt.2_Missense_Mutation_p.H575Y|AP2B1_uc010ctv.2_Missense_Mutation_p.H575Y|AP2B1_uc010wcj.1_Missense_Mutation_p.H312Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	575					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGTGTATCATAAGCCTCC	0.463		NaN											0	0	0	1	0	46	106				
DDX52	11056	broad.mit.edu	37	17	36003428	36003428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36003428G>A	uc002hoi.1	-	1	60	c.22C>T	c.(22-24)CGC>TGC	p.R8C	DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	8						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				CCGAGCCGGCGAAAGAGATCG	0.637		NaN											0	0	0	1	0	12	66				
GPR179	440435	broad.mit.edu	37	17	36484647	36484647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36484647C>G	uc002hpz.2	-	11	4826	c.4805G>C	c.(4804-4806)AGA>ACA	p.R1602T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1602	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCATTCCTCTCTTGTTCTTTC	0.498		NaN											0	0	0	1	0	54	191				
GPR179	440435	broad.mit.edu	37	17	36485920	36485920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36485920C>G	uc002hpz.2	-	11	3553	c.3532G>C	c.(3532-3534)GAC>CAC	p.D1178H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1178	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCTCTGTCTTCTTGTTCC	0.552		NaN											0	0	0	1	0	73	248				
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486038C>T	uc002hpz.2	-	11	3435	c.3414G>A	c.(3412-3414)GTG>GTA	p.V1138V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1138	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632		NaN											0	0	0	1	0	37	126				
GPR179	440435	broad.mit.edu	37	17	36486125	36486125	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486125C>T	uc002hpz.2	-	11	3348	c.3327G>A	c.(3325-3327)GAG>GAA	p.E1109E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1109	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCGGGACTCTCCTCCACAC	0.652		NaN											0	0	0	1	0	20	63				
GPR179	440435	broad.mit.edu	37	17	36486274	36486274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486274C>T	uc002hpz.2	-	11	3199	c.3178G>A	c.(3178-3180)GAT>AAT	p.D1060N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1060	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCGTCCACATCATTAGCTTCC	0.572		NaN											0	0	0	1	0	34	70				
GPR179	440435	broad.mit.edu	37	17	36486362	36486362	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486362C>A	uc002hpz.2	-	11	3111	c.3090G>T	c.(3088-3090)TGG>TGT	p.W1030C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1030	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGAGGGCCCTCCAGAGCCTGG	0.602		NaN											1	0	1.2476e-16	1	1.32012e-16	28	77				
MED1	5469	broad.mit.edu	37	17	37564794	37564794	+	Missense_Mutation	SNP	G	G	A	rs144178898		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:37564794G>A	uc002hrv.3	-	17	3892	c.3680C>T	c.(3679-3681)TCA>TTA	p.S1227L	MED1_uc010wee.1_Missense_Mutation_p.S1055L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1227	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCAGAACCTGAACTGATAGG	0.507		NaN								HNSCC(31;0.082)			0	0	0	1	0	20	68				
CDC6	990	broad.mit.edu	37	17	38449865	38449865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38449865C>T	uc002huj.1	+	5	1028	c.818C>T	c.(817-819)GCA>GTA	p.A273V		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	273					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						CATATGACTGCAGAGAAGGGC	0.428		NaN											0	0	0	1	0	12	34				
KRT24	192666	broad.mit.edu	37	17	38859916	38859916	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38859916G>A	uc002hvd.2	-	1	87	c.30C>T	c.(28-30)TCC>TCT	p.S10S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	10	Head.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CTCCAGCCCTGGAGGAGGAGG	0.607		NaN											0	0	0	1	0	15	49				
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:39274150T>A	uc002hvz.2	-	1	457	c.418A>T	c.(418-420)AGC>TGC	p.S140C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.129		NaN											0	0	0	1	0	4	50				
ACLY	47	broad.mit.edu	37	17	40068700	40068700	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40068700C>T	uc002hyg.2	-	3	418	c.255G>A	c.(253-255)CTG>CTA	p.L85L	ACLY_uc002hyh.2_Silent_p.L85L|ACLY_uc002hyi.2_Silent_p.L139L|ACLY_uc010wfx.1_Silent_p.L139L|ACLY_uc010wfy.1_Silent_p.L85L	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	85					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCCGTGGCTTCAGCCAGGACT	0.547		NaN											0	0	0	1	0	25	109				
NKIRAS2	28511	broad.mit.edu	37	17	40175730	40175730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40175730C>G	uc002hyq.2	+	4	460	c.395C>G	c.(394-396)CCA>CGA	p.P132R	NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Missense_Mutation_p.P132R|NKIRAS2_uc002hys.2_Missense_Mutation_p.P132R|NKIRAS2_uc010wge.1_Missense_Mutation_p.P76R|NKIRAS2_uc002hyt.2_Missense_Mutation_p.P132R	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	132	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGTAGACCCAGATGTGGCT	0.587		NaN											0	0	0	1	0	14	87				
COASY	80347	broad.mit.edu	37	17	40716787	40716787	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40716787G>C	uc002hzz.2	+	5	1265	c.1108G>C	c.(1108-1110)GGG>CGG	p.G370R	COASY_uc010cyj.2_Missense_Mutation_p.G399R|COASY_uc002iab.2_Missense_Mutation_p.G75R|COASY_uc002iad.2_Missense_Mutation_p.G370R|COASY_uc002iac.2_Missense_Mutation_p.G370R|COASY_uc002iae.2_Missense_Mutation_p.G165R|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	370	DPCK.|ATP (Potential).				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGTGGCTCTGGGAAGAGCTC	0.587		NaN											0	0	0	1	0	56	153				
CCR10	2826	broad.mit.edu	37	17	40831665	40831665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831665G>A	uc002iax.3	-	2	999	c.995C>T	c.(994-996)TCA>TTA	p.S332L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	332	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTGAGGCCCTGAGGGGCAGCT	0.562		NaN											0	0	0	1	0	12	49				
CCR10	2826	broad.mit.edu	37	17	40831709	40831709	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831709G>A	uc002iax.3	-	2	955	c.951C>T	c.(949-951)TTC>TTT	p.F317F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	317	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGTCCTGGCGGAAGCGCAGGC	0.557		NaN											0	0	0	1	0	11	41				
CCR10	2826	broad.mit.edu	37	17	40831733	40831733	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831733G>C	uc002iax.3	-	2	931	c.927C>G	c.(925-927)CTC>CTG	p.L309L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	309	Helical; Name=7; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGGCGTAGAGAACGGGAT	0.617		NaN											0	0	0	1	0	5	40				
CCR10	2826	broad.mit.edu	37	17	40831760	40831760	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831760G>A	uc002iax.3	-	2	904	c.900C>T	c.(898-900)CTC>CTT	p.L300L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	300	Helical; Name=7; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACAGCGGGCGAGGGCCAAGC	0.682		NaN											0	0	0	1	0	6	35				
CCR10	2826	broad.mit.edu	37	17	40831892	40831892	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831892G>A	uc002iax.3	-	2	772	c.768C>T	c.(766-768)TTC>TTT	p.F256F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	256	Helical; Name=6; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGCACCACGAAGGCCGCCA	0.711		NaN											0	0	0	1	0	5	18				
EZH1	2145	broad.mit.edu	37	17	40864325	40864325	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40864325C>A	uc002iaz.2	-	12	1528	c.1383G>T	c.(1381-1383)GGG>GGT	p.G461G	EZH1_uc002iba.2_Silent_p.G452G|EZH1_uc010wgt.1_Silent_p.G391G|EZH1_uc010wgu.1_Silent_p.G467G|EZH1_uc010wgv.1_Silent_p.G421G|EZH1_uc010wgw.1_Silent_p.G322G|EZH1_uc010cyp.2_Silent_p.G362G|EZH1_uc010cyq.2_Silent_p.G378G|EZH1_uc010cyo.1_Silent_p.G124G|EZH1_uc010cyr.1_Silent_p.G113G	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	461					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACGTCTTGGTCCCCAGAAGCC	0.532		NaN											1	0	1.96895e-08	1	2.0463e-08	24	94				
WNK4	65266	broad.mit.edu	37	17	40947953	40947953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40947953G>A	uc002ibj.2	+	16	3354	c.3333G>A	c.(3331-3333)ATG>ATA	p.M1111I	WNK4_uc010wgx.1_Missense_Mutation_p.M775I|CCDC56_uc010wgz.1_Missense_Mutation_p.S102L|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1111					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGTGTGGATGAACTACTCCT	0.587		NaN											0	0	0	1	0	24	61				
RUNDC1	146923	broad.mit.edu	37	17	41143537	41143537	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41143537A>G	uc002ici.1	+	5	1658	c.1646A>G	c.(1645-1647)CAG>CGG	p.Q549R	RUNDC1_uc010whi.1_Missense_Mutation_p.Q319R	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	549	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGAATGAGCAGCGTCTGGTG	0.547		NaN											0	0	0	1	0	17	57				
VAT1	10493	broad.mit.edu	37	17	41174209	41174209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41174209G>T	uc002icm.1	-	1	251	c.131C>A	c.(130-132)TCG>TAG	p.S44*	VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Nonsense_Mutation_p.S44*	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	44						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		cagtggcggcgaggcggcggc	0.443		NaN											1	0	0.00909568	1	0.00916606	3	8				
ETV4	2118	broad.mit.edu	37	17	41610076	41610076	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41610076G>A	uc002idw.2	-	8	905	c.777C>T	c.(775-777)ATC>ATT	p.I259I	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.I205I|ETV4_uc010czh.2_Silent_p.I258I|ETV4_uc010wii.1_Silent_p.I220I|ETV4_uc002idx.2_Silent_p.I259I|ETV4_uc010wij.1_Silent_p.I220I	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	259					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTTCCTGTTTGATCACCACCC	0.587		NaN	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								0	0	0	1	0	31	98				
UBTF	7343	broad.mit.edu	37	17	42289312	42289312	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42289312G>C	uc002igb.2	-	8	901	c.834C>G	c.(832-834)ACC>ACG	p.T278T	UBTF_uc002igc.2_Silent_p.T241T|UBTF_uc010czs.2_Silent_p.T278T|UBTF_uc002igd.2_Silent_p.T241T|UBTF_uc010czt.2_Silent_p.T278T|UBTF_uc002ige.2_Silent_p.T241T	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	278					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGGACTTGGTGATACCCT	0.612		NaN											0	0	0	1	0	35	124				
SLC25A39	51629	broad.mit.edu	37	17	42398044	42398044	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42398044C>T	uc002ign.2	-	9	901	c.747G>A	c.(745-747)CCG>CCA	p.P249P	SLC25A39_uc002igm.2_Silent_p.P241P|SLC25A39_uc002igo.2_Silent_p.P241P|SLC25A39_uc010wiw.1_Silent_p.P226P|SLC25A39_uc010czu.2_Silent_p.P117P|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	249					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTGGTCCTTCGGCCTGAACC	0.597		NaN											0	0	0	1	0	51	121				
HEXIM1	10614	broad.mit.edu	37	17	43227467	43227467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:43227467G>A	uc002iig.2	+	1	2784	c.910G>A	c.(910-912)GAG>AAG	p.E304K		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	304	Mediates interaction with CCNT1.|Potential.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CATGGAGGACGAGAACAACCG	0.647		NaN											0	0	0	1	0	16	163				
SKAP1	8631	broad.mit.edu	37	17	46262095	46262095	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46262095C>T	uc002ini.1	-	7	669	c.557G>A	c.(556-558)CGC>CAC	p.R186H	SKAP1_uc002inj.1_Missense_Mutation_p.R186H|SKAP1_uc010dbd.1_Missense_Mutation_p.R92H|SKAP1_uc010dbe.1_Missense_Mutation_p.R186H	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	186	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						CTCATAGCTGCGCCTATCCTG	0.522		NaN											0	0	0	1	0	60	136				
HOXB8	3218	broad.mit.edu	37	17	46691686	46691686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46691686C>G	uc002inw.2	-	1	616	c.381G>C	c.(379-381)CAG>CAC	p.Q127H		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGACGGGCTCTGCTCGGAGC	0.706		NaN											0	0	0	1	0	7	27				
DLX4	1748	broad.mit.edu	37	17	48046847	48046847	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48046847C>T	uc002ipv.2	+	1	286	c.15C>T	c.(13-15)CCC>CCT	p.P5P		NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	5				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTCTTTGCCCTGCCCCCTCC	0.677		NaN											0	0	0	1	0	39	164				
SAMD14	201191	broad.mit.edu	37	17	48194939	48194939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48194939C>T	uc002iqg.2	-	4	630	c.331G>A	c.(331-333)GAG>AAG	p.E111K	SAMD14_uc002iqd.2_5'UTR|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.E111K	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	111											0						GGCTCGTCCTCGTCCAGGCTG	0.761		NaN											0	0	0	1	0	3	9				
MYCBPAP	84073	broad.mit.edu	37	17	48600299	48600299	+	Splice_Site	SNP	G	G	A	rs56367701		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48600299G>A	uc010wmr.1	+	11	1549	c.1387_splice	c.e11-1	p.R463_splice	MYCBPAP_uc002iqz.2_Splice_Site	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTCCTTCCAGAGGCAGGTTG	0.373		NaN											0	0	0	1	0	23	72				
SPATA20	64847	broad.mit.edu	37	17	48632592	48632592	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48632592G>C	uc002irf.2	+	15	2251	c.2110_splice	c.e15-1	p.I704_splice	SPATA20_uc002irc.2_Splice_Site_p.I371_splice|SPATA20_uc002ire.2_Splice_Site_p.I660_splice|SPATA20_uc002ird.2_Splice_Site_p.I720_splice|SPATA20_uc002irg.2_Splice_Site	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATTCCGGTCAGATCGTGATCT	0.592		NaN											0	0	0	1	0	11	39				
ABCC3	8714	broad.mit.edu	37	17	48741345	48741345	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48741345C>T	uc002isl.2	+	10	1291	c.1211C>T	c.(1210-1212)TCC>TTC	p.S404F	ABCC3_uc002isk.3_Missense_Mutation_p.S404F|ABCC3_uc002ism.2_Silent_p.V116V	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	404	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAACGTGCGTCCACTGTGGGG	0.577		NaN											0	0	0	1	0	54	68				
WFIKKN2	124857	broad.mit.edu	37	17	48917594	48917594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48917594G>C	uc002isv.3	+	2	1639	c.945G>C	c.(943-945)GAG>GAC	p.E315D	WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222D	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	315						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCACCTCAGAGAGCAGCCCCA	0.662		NaN											0	0	0	1	0	22	72				
MBTD1	54799	broad.mit.edu	37	17	49270356	49270356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:49270356G>A	uc002itr.3	-	15	1821	c.1477C>T	c.(1477-1479)CGT>TGT	p.R493C	MBTD1_uc002itp.3_Missense_Mutation_p.R329C|MBTD1_uc002itq.3_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	493	MBT 4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTCCTACACGAAATCCGTGA	0.363		NaN											0	0	0	1	0	33	86				
CA10	56934	broad.mit.edu	37	17	50235295	50235295	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:50235295C>T	uc002itw.3	-	1	838	c.-148G>A	c.(-150--146)GGGTG>GGATG		CA10_uc002itv.3_Translation_Start_Site|CA10_uc002itx.3_Translation_Start_Site|CA10_uc002ity.3_Translation_Start_Site|CA10_uc002itz.2_Translation_Start_Site	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGGACAGTCACCCCCAAGATC	0.612		NaN											0	0	0	1	0	11	22				
DGKE	8526	broad.mit.edu	37	17	54940071	54940071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:54940071G>A	uc002iur.2	+	12	1803	c.1623G>A	c.(1621-1623)ATG>ATA	p.M541I	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	541					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CACATGCAATGATGTTATATT	0.453		NaN											0	0	0	1	0	18	10				
MPO	4353	broad.mit.edu	37	17	56358002	56358002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56358002G>C	uc002ivu.1	-	1	295	c.118C>G	c.(118-120)CTG>GTG	p.L40V		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	40					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	GGCGTGGCCAGAATGGCCAGG	0.582		NaN											0	0	0	1	0	23	80				
HSF5	124535	broad.mit.edu	37	17	56540327	56540327	+	Missense_Mutation	SNP	G	G	C	rs145817491		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56540327G>C	uc002iwi.1	-	4	1482	c.1358C>G	c.(1357-1359)TCT>TGT	p.S453C		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	453						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S453F(1)		ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGGTAGAGAGCAGGCAAC	0.483		NaN											0	0	0	1	0	29	96				
MTMR4	9110	broad.mit.edu	37	17	56569025	56569025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56569025C>T	uc002iwj.2	-	19	3697	c.3587G>A	c.(3586-3588)TGA>TAA	p.*1196*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1196						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCGGCATTCAACTGGAAGC	0.468		NaN											0	0	0	1	0	19	57				
HEATR6	63897	broad.mit.edu	37	17	58128216	58128216	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58128216G>A	uc002iyk.1	-	15	2429	c.2412C>T	c.(2410-2412)TTC>TTT	p.F804F	HEATR6_uc010ddk.1_Silent_p.F343F|HEATR6_uc010wos.1_Silent_p.F524F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	804							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCAGATTGCTGAAGGCCTCTG	0.502		NaN											0	0	0	1	0	15	51				
CA4	762	broad.mit.edu	37	17	58234821	58234821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58234821C>T	uc002iym.3	+	4	396	c.302C>T	c.(301-303)TCT>TTT	p.S101F	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	101					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCAGCATTTCTGGAGGAGGA	0.587		NaN											0	0	0	1	0	22	89				
BRIP1	83990	broad.mit.edu	37	17	59770842	59770842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:59770842G>C	uc002izk.1	-	18	2665	c.2524C>G	c.(2524-2526)CTT>GTT	p.L842V	BRIP1_uc002izl.1_Missense_Mutation_p.L223V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	842					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						ACTAGAATAAGAGCTCCCCAA	0.353		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	17	44				
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60059866G>C	uc002izo.2	-	16	3575	c.3498C>G	c.(3496-3498)CTC>CTG	p.L1166L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AGGTAGCCCTGAGAGCTTCAA	0.348		NaN											0	0	0	1	0	21	109				
MED13	9969	broad.mit.edu	37	17	60140470	60140470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60140470C>T	uc002izo.2	-	2	336	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	87					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CTGGGGTCTTCACCCCACCAA	0.418		NaN											0	0	0	1	0	28	69				
TLK2	11011	broad.mit.edu	37	17	60685465	60685465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60685465G>A	uc010ddp.2	+	22	2369	c.2101G>A	c.(2101-2103)GAA>AAA	p.E701K	TLK2_uc002izx.3_Missense_Mutation_p.E527K|TLK2_uc002izz.3_Missense_Mutation_p.E679K|TLK2_uc002jaa.3_Missense_Mutation_p.E647K|TLK2_uc010wpd.1_Missense_Mutation_p.E647K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	701	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						TAAAGCTACTGAAGTGCAGTT	0.423		NaN											0	0	0	1	0	9	28				
ACE	1636	broad.mit.edu	37	17	61560831	61560831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61560831C>T	uc002jau.1	+	10	1520	c.1498C>T	c.(1498-1500)CAG>TAG	p.Q500*	ACE_uc010wpi.1_Silent_p.I451I|ACE_uc010ddu.1_Nonsense_Mutation_p.Q317*|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	500	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCAAGTATCAGGGGATCTG	0.448		NaN											0	0	0	1	0	23	76				
KCNH6	81033	broad.mit.edu	37	17	61601526	61601526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61601526C>T	uc002jay.2	+	2	183	c.103C>T	c.(103-105)CAG>TAG	p.Q35*	KCNH6_uc002jax.1_Nonsense_Mutation_p.Q35*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.Q35*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.Q35*	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	35	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TGCCAATGCTCAGATGGAGAA	0.567		NaN											0	0	0	1	0	83	275				
FTSJ3	117246	broad.mit.edu	37	17	61901514	61901514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61901514C>G	uc002jbz.2	-	11	1162	c.1084G>C	c.(1084-1086)GAG>CAG	p.E362Q	FTSJ3_uc002jca.2_Missense_Mutation_p.E362Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	362					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						tcctcctcctcttcctcctcc	0.458		NaN											0	0	0	1	0	51	177				
CCDC45	90799	broad.mit.edu	37	17	62533747	62533747	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:62533747G>A	uc002jem.2	+	20	2374	c.2316G>A	c.(2314-2316)CTG>CTA	p.L772L	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.L608L	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	772	Potential.					centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGAGGGAGCTGAGATCTAAGA	0.453		NaN											0	0	0	1	0	12	26				
RGS9	8787	broad.mit.edu	37	17	63156421	63156421	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63156421C>G	uc002jfe.2	+	4	386	c.276C>G	c.(274-276)CTC>CTG	p.L92L	RGS9_uc010dem.2_Silent_p.L92L|RGS9_uc002jfd.2_Silent_p.L92L|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	92	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CCAAGAATCTCATTCTCAAGC	0.478		NaN											0	0	0	1	0	24	84				
AXIN2	8313	broad.mit.edu	37	17	63545744	63545744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63545744G>A	uc002jfi.2	-	3	1139	c.850C>T	c.(850-852)CAC>TAC	p.H284Y	AXIN2_uc010den.1_Missense_Mutation_p.H284Y|AXIN2_uc002jfh.2_Missense_Mutation_p.H284Y	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	284					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GAACCTATGTGATAAGGATTA	0.502		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				0	0	0	1	0	6	23				
WIPI1	55062	broad.mit.edu	37	17	66423333	66423333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66423333G>A	uc010dey.2	-	11	1226	c.1135C>T	c.(1135-1137)CAG>TAG	p.Q379*	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Nonsense_Mutation_p.Q297*|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	379					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						GCATAAGACTGAGGTAAGGAA	0.502		NaN											0	0	0	1	0	21	86				
PRKAR1A	5573	broad.mit.edu	37	17	66526076	66526076	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66526076C>G	uc002jhg.2	+	10	1087	c.907C>G	c.(907-909)CTA>GTA	p.L303V	PRKAR1A_uc002jhh.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L179V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L303V	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	303	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					AGCTGCTGTGCTACAACGTCG	0.393		NaN	T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				0	0	0	1	0	34	103				
ABCA8	10351	broad.mit.edu	37	17	66890330	66890331	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890330_66890331CT>TA	uc002jhp.2	-	21	3078_3079	c.2899_2900AG>TA	c.(2899-2901)AGA>TAA	p.R967*	ABCA8_uc002jhq.2_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.R946*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.R1007*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	967						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					AAATGTACTTCTTTCAGTTCGG	0.366		NaN											0	0	0	1	0	5	25				
ABCA8	10351	broad.mit.edu	37	17	66890366	66890366	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890366C>A	uc002jhp.2	-	21	3043	c.2864G>T	c.(2863-2865)GGA>GTA	p.G955V	ABCA8_uc002jhq.2_Missense_Mutation_p.G995V|ABCA8_uc010wqq.1_Missense_Mutation_p.G995V|ABCA8_uc010wqr.1_Missense_Mutation_p.G934V|ABCA8_uc002jhr.2_Missense_Mutation_p.G995V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	955						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTTAACCATTCCAAGTAGCCC	0.343		NaN											1	0	3.59834e-05	1	3.66325e-05	6	24				
ABCA10	10349	broad.mit.edu	37	17	67152011	67152011	+	Missense_Mutation	SNP	C	C	G	rs140554607		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:67152011C>G	uc010dfa.1	-	30	4390	c.3511G>C	c.(3511-3513)GAT>CAT	p.D1171H	ABCA10_uc010wqs.1_Missense_Mutation_p.D163H|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1171					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ACATCTTCATCTTCTTCTTCG	0.423		NaN											0	0	0	1	0	18	95				
CD300LD	100131439	broad.mit.edu	37	17	72584728	72584728	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:72584728C>A	uc002jkz.2	-	2	330	c.301G>T	c.(301-303)GAT>TAT	p.D101Y	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	101	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity				0						CTGTCAGCATCATCTCTTTTG	0.443		NaN											1	0	9.31168e-06	1	9.53124e-06	14	155				
NUP85	79902	broad.mit.edu	37	17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73208116C>T	uc002jng.1	+	4	580	c.320C>T	c.(319-321)TCA>TTA	p.S107L	NUP85_uc010dgd.1_Missense_Mutation_p.S107L|NUP85_uc010wrv.1_Missense_Mutation_p.S61L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	107					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.209		NaN											0	0	0	1	0	6	35				
MRPS7	51081	broad.mit.edu	37	17	73258675	73258675	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73258675G>A	uc002jnm.3	+	2	414	c.181G>A	c.(181-183)GAG>AAG	p.E61K	GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.E61K|MRPS7_uc002jnn.3_Missense_Mutation_p.E90K	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7 precursor	61					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	p.E61E(1)		central_nervous_system(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCTAACTGAGGAGGAGAAATA	0.473		NaN											0	0	0	1	0	45	188				
ITGB4	3691	broad.mit.edu	37	17	73725400	73725400	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73725400C>T	uc002jpg.2	+	7	808	c.621C>T	c.(619-621)ATC>ATT	p.I207I	ITGB4_uc002jph.2_Silent_p.I207I|ITGB4_uc010dgo.2_Silent_p.I207I|ITGB4_uc002jpi.3_Silent_p.I207I|ITGB4_uc010dgp.1_Silent_p.I207I|ITGB4_uc002jpj.2_Silent_p.I207I|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	207	VWFA.|Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAACGTCATCAGCCTGACAG	0.597		NaN											0	0	0	1	0	19	79				
FBF1	85302	broad.mit.edu	37	17	73919562	73919562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73919562C>G	uc002jqc.2	-	13	1358	c.1084G>C	c.(1084-1086)GAG>CAG	p.E362Q	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E353Q|FBF1_uc002jqd.1_Missense_Mutation_p.E363Q|FBF1_uc010dgr.1_5'Flank	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	362											0						CGATGGGCCTCTCTGGTGGGT	0.652		NaN											0	0	0	1	0	4	14				
DNAH17	8632	broad.mit.edu	37	17	76422558	76422558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76422558C>G	uc010dhp.1	-	24	4117	c.3895G>C	c.(3895-3897)GAC>CAC	p.D1299H	DNAH17_uc002jvq.2_Missense_Mutation_p.D584H|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCAGCAGGTCTGCGTACCAG	0.627		NaN											0	0	0	1	0	14	31				
DNAH17	8632	broad.mit.edu	37	17	76557991	76557991	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76557991G>C	uc002jvv.1	-	8	853	c.747C>G	c.(745-747)GTC>GTG	p.V249V						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGCATGACTGAATACC	0.577		NaN											0	0	0	1	0	7	31				
USP36	57602	broad.mit.edu	37	17	76831483	76831483	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76831483G>A	uc002jvz.1	-	4	679	c.354C>T	c.(352-354)TTC>TTT	p.F118F	USP36_uc002jwa.1_Silent_p.F118F|USP36_uc002jwd.1_Silent_p.F118F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	118					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCCCACGCGGAAGACCCGCT	0.592		NaN											0	0	0	1	0	9	41				
CCDC40	55036	broad.mit.edu	37	17	78061848	78061848	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78061848G>A	uc010dht.2	+	16	2685	c.2658G>A	c.(2656-2658)CTG>CTA	p.L886L	CCDC40_uc002jxm.3_Silent_p.L669L|CCDC40_uc002jxn.3_Silent_p.L282L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	886	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGACAAGCTGAACCAGCTCA	0.617		NaN											0	0	0	1	0	18	57				
RNF213	57674	broad.mit.edu	37	17	78328356	78328356	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78328356C>G	uc002jyh.1	+	11	5284	c.5061C>G	c.(5059-5061)CTC>CTG	p.L1687L	uc002jyi.1_RNA|RNF213_uc010dhw.1_Silent_p.L69L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGACGCTCTCCAGGAGGCGG	0.547		NaN											0	0	0	1	0	14	52				
NOTUM	147111	broad.mit.edu	37	17	79918540	79918540	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79918540C>T	uc010wvg.1	-	1	518	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	82						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGAGCTGCTGCGCGGAGCAGG	0.662		NaN											0	0	0	1	0	9	18				
ASPSCR1	79058	broad.mit.edu	37	17	79941448	79941448	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79941448C>T	uc002kcx.2	+	3	274	c.177C>T	c.(175-177)CTC>CTT	p.L59L	ASPSCR1_uc002kcw.1_Silent_p.L59L|ASPSCR1_uc002kcy.2_Silent_p.L59L|ASPSCR1_uc002kcz.2_Silent_p.L59L|ASPSCR1_uc002kda.2_5'UTR|ASPSCR1_uc002kdb.1_5'UTR	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	59							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCGTGCTCGACCTTTCTC	0.483		NaN	T	TFE3	alveolar soft part sarcoma								0	0	0	1	0	9	21				
LRRC45	201255	broad.mit.edu	37	17	79988621	79988621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79988621G>A	uc002kde.2	+	17	2193	c.1953G>A	c.(1951-1953)CAG>CAA	p.Q651Q	RAC3_uc002kdf.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	651						centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTTCCTGCAGAACGCCGTCC	0.697		NaN											0	0	0	1	0	12	15				
SLC16A3	9123	broad.mit.edu	37	17	80196577	80196577	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80196577G>A	uc002kea.2	+	5	1263	c.1124_splice	c.e5-1	p.G375_splice	SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Splice_Site_p.G375_splice|SLC16A3_uc002kec.2_Splice_Site_p.G375_splice|SLC16A3_uc002ked.2_Splice_Site_p.G375_splice	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3						blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TCTTCCCGCAGGCAAACTCCT	0.642		NaN											0	0	0	1	0	10	19				
FN3K	64122	broad.mit.edu	37	17	80708323	80708323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80708323G>C	uc010wvs.1	+	6	683	c.622G>C	c.(622-624)GAG>CAG	p.E208Q	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	208					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGTGGCCTAGAGATTGTCCC	0.582		NaN											0	0	0	1	0	34	102				
ZNF750	79755	broad.mit.edu	37	17	80788081	80788081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788081C>G	uc002kga.2	-	3	2420	c.2109G>C	c.(2107-2109)AAG>AAC	p.K703N	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	703						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTCGCCTTCTTAGCTCCTT	0.567		NaN											0	0	0	1	0	30	93				
ZNF750	79755	broad.mit.edu	37	17	80788126	80788126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788126C>G	uc002kga.2	-	3	2375	c.2064G>C	c.(2062-2064)AAG>AAC	p.K688N	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	688						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACTTGTCCTCTTTTGTCCTT	0.592		NaN											0	0	0	1	0	38	103				
ZNF750	79755	broad.mit.edu	37	17	80788419	80788419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788419C>G	uc002kga.2	-	3	2082	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	591						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCCATCCTCAGAACCTTCT	0.677		NaN											0	0	0	1	0	24	89				
ZNF750	79755	broad.mit.edu	37	17	80789062	80789062	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789062C>T	uc002kga.2	-	2	1580	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	423						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCTGGCTCGTCTGCATGA	0.652		NaN											0	0	0	1	0	37	110				
ZNF750	79755	broad.mit.edu	37	17	80789532	80789532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789532C>G	uc002kga.2	-	2	1110	c.799G>C	c.(799-801)GAG>CAG	p.E267Q	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	267						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTCACACTCAGGCGAGCTC	0.612		NaN											0	0	0	1	0	38	118				
ZNF750	79755	broad.mit.edu	37	17	80790213	80790213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80790213G>C	uc002kga.2	-	2	429	c.118C>G	c.(118-120)CTT>GTT	p.L40V	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418		NaN											0	0	0	1	0	71	62				
COLEC12	81035	broad.mit.edu	37	18	346722	346722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:346722G>A	uc002kkm.2	-	5	1115	c.900C>T	c.(898-900)ATC>ATT	p.I300I		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	300	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATAGTGGTGATGTTCTCCA	0.502		NaN											0	0	0	1	0	19	65				
EMILIN2	84034	broad.mit.edu	37	18	2891158	2891158	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:2891158G>A	uc002kln.2	+	4	1192	c.1033G>A	c.(1033-1035)GAG>AAG	p.E345K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	345					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		AAACTCATGTGAGTACAAGCT	0.522		NaN											0	0	0	1	0	38	123				
EPB41L3	23136	broad.mit.edu	37	18	5397426	5397426	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:5397426C>G	uc002kmt.1	-	18	2559	c.2473_splice	c.e18-1	p.K825_splice	EPB41L3_uc010wzh.1_Splice_Site_p.K656_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K603_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K494_splice|EPB41L3_uc002kms.1_Splice_Site_p.K60_splice|EPB41L3_uc010wze.1_Splice_Site_p.K130_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K122_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K97_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K217_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTTCCATTTTCTGCATGGGAA	0.517		NaN											0	0	0	1	0	24	87				
LRRC30	339291	broad.mit.edu	37	18	7231348	7231348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:7231348C>A	uc010wzk.1	+	1	212	c.212C>A	c.(211-213)TCC>TAC	p.S71Y		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	71										ovary(1)|liver(1)	2						TGGGGCTTGTCCGAGGTCCAG	0.607		NaN											1	0	1.9806e-07	1	2.0496e-07	23	75				
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:9396492G>C	uc002knz.2	+	4	629	c.438G>C	c.(436-438)CAG>CAC	p.Q146H	TWSG1_uc002koa.2_Missense_Mutation_p.Q71H	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation precursor	146										ovary(1)|pancreas(1)	2						CACACCACCAGAATGTGTCTG	0.443		NaN											0	0	0	1	0	17	60				
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Missense_Mutation	SNP	G	G	C	rs139948292		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:12264384G>C	uc002kqt.3	+	3	327	c.262G>C	c.(262-264)GAG>CAG	p.E88Q	CIDEA_uc002kqu.3_Missense_Mutation_p.E122Q|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						GGACACAGAAGAGTTCTTTCA	0.512		NaN											0	0	0	1	0	19	58				
CEP192	55125	broad.mit.edu	37	18	13059091	13059091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:13059091C>G	uc010xac.1	+	21	4348	c.4268C>G	c.(4267-4269)TCA>TGA	p.S1423*	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.S948*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.S1164*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1423										ovary(4)|pancreas(1)	5						GTGGATCTTTCAACATATCGT	0.358		NaN											0	0	0	1	0	21	58				
MIB1	57534	broad.mit.edu	37	18	19427037	19427037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:19427037G>A	uc002ktq.2	+	16	2344	c.2344G>A	c.(2344-2346)GAT>AAT	p.D782N	MIB1_uc002ktp.2_Missense_Mutation_p.D421N	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	782					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TCTCTGTCCTGATCCGAATCT	0.393		NaN											0	0	0	1	0	21	55				
LAMA3	3909	broad.mit.edu	37	18	21327958	21327958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:21327958G>A	uc002kuq.2	+	3	585	c.499G>A	c.(499-501)GAT>AAT	p.D167N	LAMA3_uc010dlv.1_Missense_Mutation_p.D167N|LAMA3_uc002kur.2_Missense_Mutation_p.D167N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	167	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTCGCCCTGATCTTTGGGT	0.348		NaN											0	0	0	1	0	21	68				
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28720060C>G	uc002kwn.2	-	10	1727	c.1465G>C	c.(1465-1467)GAA>CAA	p.E489Q	DSC1_uc002kwm.2_Missense_Mutation_p.E489Q	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	489	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428		NaN											0	0	0	1	0	22	74				
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28916386C>A	uc002kwp.2	+	9	1287	c.1075C>A	c.(1075-1077)CAT>AAT	p.H359N		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	359	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATTTCATCATTCAATTAT	0.343		NaN											1	0	0.184627	1	0.184846	5	25				
DSG1	1828	broad.mit.edu	37	18	28923426	28923426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923426G>C	uc002kwp.2	+	12	1913	c.1701G>C	c.(1699-1701)TTG>TTC	p.L567F	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	567	Helical; (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCCCATTTTTGATGATCTGTT	0.423		NaN											0	0	0	1	0	32	122				
DSG1	1828	broad.mit.edu	37	18	28923523	28923523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923523G>C	uc002kwp.2	+	12	2010	c.1798G>C	c.(1798-1800)GAA>CAA	p.E600Q	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	600	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGCAGTAGAAGGACCACA	0.483		NaN											0	0	0	1	0	23	75				
C18orf34	374864	broad.mit.edu	37	18	30913193	30913193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:30913193G>C	uc002kxn.2	-	9	966	c.824C>G	c.(823-825)TCT>TGT	p.S275C	C18orf34_uc010xbr.1_Missense_Mutation_p.S275C|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S275C|C18orf34_uc002kxp.2_Missense_Mutation_p.S275C	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	275	Potential.									ovary(1)	1						ATTCTGCTTAGAGTCCAGTAG	0.328		NaN											0	0	0	1	0	9	40				
ASXL3	80816	broad.mit.edu	37	18	31319557	31319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:31319557C>T	uc010dmg.1	+	11	2244	c.2189C>T	c.(2188-2190)TCA>TTA	p.S730L	ASXL3_uc002kxq.2_Missense_Mutation_p.S437L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	730	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GAAACTTCTTCAGTGTCTTCC	0.398		NaN											0	0	0	1	0	55	207				
C18orf10	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34376949G>C	uc002kzw.1	-	7	1150	c.722C>G	c.(721-723)TCC>TGC	p.S241C	C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.S206C|C18orf10_uc002kzx.1_Missense_Mutation_p.S198C	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	241						cytoplasm|microtubule				skin(1)	1						ATTCACAAAGGAGTCGGTCTC	0.443		NaN											0	0	0	1	0	52	143				
KIAA1328	57536	broad.mit.edu	37	18	34415224	34415224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34415224C>G	uc002kzz.2	+	3	144	c.122C>G	c.(121-123)TCA>TGA	p.S41*		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	41										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		AATGTCAGATCAAGACACAAG	0.393		NaN											0	0	0	1	0	17	56				
SETBP1	26040	broad.mit.edu	37	18	42530198	42530198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:42530198C>T	uc010dni.2	+	4	1189	c.893C>T	c.(892-894)TCA>TTA	p.S298L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	298						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCACAGCTCACCAGCCCCA	0.567		NaN							Schinzel-Giedion_syndrome				0	0	0	1	0	22	88				
SLC14A1	6563	broad.mit.edu	37	18	43319255	43319255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:43319255C>T	uc010xcn.1	+	8	1110	c.791C>T	c.(790-792)TCA>TTA	p.S264L	SLC14A1_uc010dnk.2_Missense_Mutation_p.S320L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S264L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.S159L|SLC14A1_uc002lbh.3_Missense_Mutation_p.S156L|SLC14A1_uc002lbi.3_Missense_Mutation_p.S132L|SLC14A1_uc002lbj.3_Missense_Mutation_p.S320L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S264L	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	264						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						GCCATAGGATCATTGCTGGGC	0.537		NaN											0	0	0	1	0	27	81				
TCEB3B	51224	broad.mit.edu	37	18	44561352	44561352	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44561352G>T	uc002lcr.1	-	1	637	c.284C>A	c.(283-285)TCC>TAC	p.S95Y	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	95					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCGCTGTCGGGAAGCGCTCTC	0.657		NaN											1	0	1.40151e-16	1	1.48112e-16	22	67				
IER3IP1	51124	broad.mit.edu	37	18	44682582	44682582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44682582G>C	uc002lcu.2	-	3	312	c.215C>G	c.(214-216)TCA>TGA	p.S72*		NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein	72	Helical; (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane					0						AATTGCAATTGAGTTTACTAT	0.303		NaN											0	0	0	1	0	7	30				
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47581731G>A	uc002leb.2	-	2	333	c.45C>T	c.(43-45)ATC>ATT	p.I15I	MYO5B_uc002lec.1_Silent_p.I14I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	15	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453		NaN											0	0	0	1	0	23	84				
CXXC1	30827	broad.mit.edu	37	18	47810410	47810410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47810410C>T	uc002leq.3	-	10	2000	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E280K|CXXC1_uc002ler.3_Missense_Mutation_p.E427K|CXXC1_uc010doy.2_Missense_Mutation_p.E423K|CXXC1_uc002les.2_Missense_Mutation_p.E423K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	423	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGTGCTCTTCAGCAATGCAA	0.587		NaN											0	0	0	1	0	43	114				
ALPK2	115701	broad.mit.edu	37	18	56205258	56205258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:56205258C>T	uc002lhj.3	-	5	2375	c.2161G>A	c.(2161-2163)GAA>AAA	p.E721K	ALPK2_uc002lhk.1_Missense_Mutation_p.E52K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	721							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TCTTGTTTTTCTTCATGCTGT	0.448		NaN											0	0	0	1	0	48	138				
SERPINB5	5268	broad.mit.edu	37	18	61170752	61170752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61170752G>C	uc002liz.3	+	7	1067	c.925G>C	c.(925-927)GAG>CAG	p.E309Q		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	309					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						TGGAATGTCAGAGACCAAGGG	0.438		NaN											0	0	0	1	0	29	53				
SERPINB8	5271	broad.mit.edu	37	18	61654502	61654502	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61654502C>T	uc002ljv.2	+	7	1284	c.1115C>T	c.(1114-1116)TCT>TTT	p.S372F	SERPINB8_uc002lju.2_Missense_Mutation_p.S372F|SERPINB8_uc010xex.1_Missense_Mutation_p.S190F	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	372					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGCAGGTTCTCTTCTCCGTAA	0.473		NaN											0	0	0	1	0	19	54				
TSHZ1	10194	broad.mit.edu	37	18	72999280	72999280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:72999280G>A	uc002lly.2	+	2	2346	c.1783G>A	c.(1783-1785)GAG>AAG	p.E595K		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	640						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCTGCCATGGAGGAGCTGGT	0.637		NaN											0	0	0	1	0	17	83				
CDC34	997	broad.mit.edu	37	19	541369	541369	+	Silent	SNP	G	G	A	rs143039634		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:541369G>A	uc002lov.2	+	5	727	c.528G>A	c.(526-528)GCG>GCA	p.A176A	GZMM_uc002low.1_5'Flank	NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	176					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACGCGGAGCGTGACG	0.716		NaN											0	0	0	1	0	5	18				
FSTL3	10272	broad.mit.edu	37	19	677928	677928	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677928G>A	uc002lpk.1	+	2	275	c.240G>A	c.(238-240)AAG>AAA	p.K80K	FSTL3_uc010drt.1_5'Flank	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	80	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGAACAAGATCAACCTCC	0.627		NaN	T	CCND1	B-CLL								0	0	0	1	0	29	109				
FSTL3	10272	broad.mit.edu	37	19	677931	677931	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677931C>T	uc002lpk.1	+	2	278	c.243C>T	c.(241-243)ATC>ATT	p.I81I	FSTL3_uc010drt.1_5'Flank	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	81	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACAAGATCAACCTCCTCG	0.622		NaN	T	CCND1	B-CLL								0	0	0	1	0	29	106				
REXO1	57455	broad.mit.edu	37	19	1828237	1828237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:1828237G>A	uc002lua.3	-	2	646	c.551C>T	c.(550-552)TCC>TTC	p.S184F	REXO1_uc010dsr.1_Missense_Mutation_p.S138F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	184						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTCCAGGGACGCCAGCGA	0.716		NaN											0	0	0	1	0	7	32				
ZNF77	58492	broad.mit.edu	37	19	2939284	2939284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:2939284G>C	uc002lws.3	-	2	256	c.125C>G	c.(124-126)TCC>TGC	p.S42C		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTACCCAAGGAGGCAAGGTT	0.567		NaN											0	0	0	1	0	18	61				
FZR1	51343	broad.mit.edu	37	19	3527044	3527044	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3527044C>A	uc010dtk.2	+	5	488	c.454C>A	c.(454-456)CCC>ACC	p.P152T	FZR1_uc002lxt.2_Missense_Mutation_p.P152T|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	152					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTGTCTCCCGTCAGCAA	0.642		NaN											1	0	6.05902e-23	1	6.45152e-23	32	112				
C19orf28	126321	broad.mit.edu	37	19	3550998	3550998	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3550998C>G	uc002lxz.2	-	2	663	c.493G>C	c.(493-495)GAG>CAG	p.E165Q	C19orf28_uc002lxw.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxx.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxy.2_Missense_Mutation_p.E156Q	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	165					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGAGCTCCACCTTCTCA	0.592		NaN											0	0	0	1	0	17	28				
GIPC3	126326	broad.mit.edu	37	19	3590172	3590172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3590172G>C	uc002lyd.3	+	6	950	c.923G>C	c.(922-924)AGA>ACA	p.R308T		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	308										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGGCCAGAGAGGCCTGT	0.433		NaN											0	0	0	1	0	4	10				
MATK	4145	broad.mit.edu	37	19	3779175	3779175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3779175C>G	uc002lyt.2	-	12	1412	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q	MATK_uc002lyv.2_Missense_Mutation_p.E339Q|MATK_uc002lyu.2_Missense_Mutation_p.E297Q|MATK_uc010dtq.2_Missense_Mutation_p.E338Q	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	338	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATGCCCTCGGCCACGTGC	0.652		NaN											0	0	0	1	0	4	20				
PTPRS	5802	broad.mit.edu	37	19	5231463	5231463	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5231463C>T	uc002mbv.2	-	14	2247	c.2013G>A	c.(2011-2013)GTG>GTA	p.V671V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.V658V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	671	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGCCGTTCACCTCCTTGG	0.672		NaN											0	0	0	1	0	20	46				
LONP1	9361	broad.mit.edu	37	19	5711936	5711936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5711936G>A	uc002mcx.2	-	4	749	c.716C>T	c.(715-717)TCA>TTA	p.S239L	LONP1_uc002mcy.2_Missense_Mutation_p.S175L|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.S239L|LONP1_uc002mcz.2_Missense_Mutation_p.S43L	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	239	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GCCCCGCTTTGACTTCCTGCG	0.667		NaN											0	0	0	1	0	27	65				
SLC25A41	284427	broad.mit.edu	37	19	6426469	6426469	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6426469C>T	uc010dus.2	-	7	1130	c.1044G>A	c.(1042-1044)CTG>CTA	p.L348L	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.L210L	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	348	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GTAAGACCTTCAGTAGCGTGG	0.602		NaN											0	0	0	1	0	25	78				
DENND1C	79958	broad.mit.edu	37	19	6467705	6467705	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6467705G>C	uc002mfe.2	-	23	2308	c.2216C>G	c.(2215-2217)TCA>TGA	p.S739*	DENND1C_uc002mfb.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfc.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfd.2_Nonsense_Mutation_p.S289*|DENND1C_uc010xje.1_Nonsense_Mutation_p.S695*	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	739						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						ACTGGGGTCTGAGGAAGGATC	0.632		NaN											0	0	0	1	0	8	29				
C3	718	broad.mit.edu	37	19	6692953	6692953	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6692953C>T	uc002mfm.2	-	26	3434	c.3372G>A	c.(3370-3372)GTG>GTA	p.V1124V	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1124					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTGGTGTATCACGGGCGCAT	0.562		NaN											0	0	0	1	0	48	185				
NDUFA7	4701	broad.mit.edu	37	19	8381530	8381530	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8381530C>A	uc002mjm.1	-	3	140	c.102_splice	c.e3-1	p.R34_splice		NM_005001	NP_004992	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	AGGCTGAGTTCTGAGGGGAAA	0.562		NaN											1	0	7.33532e-06	1	7.51282e-06	24	92				
RPS28	6234	broad.mit.edu	37	19	8386542	8386542	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8386542C>T	uc002mjn.2	+	2	73	c.42C>T	c.(40-42)GTC>GTT	p.V14V	NDUFA7_uc002mjm.1_5'Flank	NM_001031	NP_001022	P62857	RS28_HUMAN	ribosomal protein S28	14					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0						TCCTCCAGGTCACCAAGGTCC	0.637		NaN											0	0	0	1	0	6	18				
MUC16	94025	broad.mit.edu	37	19	9059942	9059942	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9059942G>A	uc002mkp.2	-	3	27708	c.27504C>T	c.(27502-27504)CAC>CAT	p.H9168H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9170	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCGAAGAAGAGTGGATGCTGT	0.517		NaN											0	0	0	1	0	10	54				
MUC16	94025	broad.mit.edu	37	19	9071650	9071650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9071650C>T	uc002mkp.2	-	3	16000	c.15796G>A	c.(15796-15798)GAA>AAA	p.E5266K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5268	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATCGTCATTTCTGCAGATTTT	0.512		NaN											0	0	0	1	0	11	93				
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9083542G>A	uc002mkp.2	-	1	8477	c.8273C>T	c.(8272-8274)TCC>TTC	p.S2758F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2758	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAATACAAGGGAACCAGTAGT	0.488		NaN											0	0	0	1	0	19	57				
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9204520C>G	uc010xkj.1	+	1	600	c.600C>G	c.(598-600)CTC>CTG	p.L200L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						TCTTCATCCTCATTGTGGCAG	0.567		NaN											0	0	0	1	0	31	138				
OR7D2	162998	broad.mit.edu	37	19	9297281	9297281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9297281C>T	uc002mkz.1	+	1	1012	c.824C>T	c.(823-825)TCG>TTG	p.S275L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	275	Helical; Name=7; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCCGTGGCCTCGGTGATGTAC	0.547		NaN											0	0	0	1	0	32	99				
OR7E24	26648	broad.mit.edu	37	19	9362193	9362193	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9362193C>T	uc002mlb.1	+	1	474	c.474C>T	c.(472-474)CTC>CTT	p.L158L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACCCACGCCTCTGTGGCTTCT	0.458		NaN											0	0	0	1	0	10	44				
ZNF560	147741	broad.mit.edu	37	19	9578284	9578284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9578284G>C	uc002mlp.1	-	10	1549	c.1339C>G	c.(1339-1341)CTT>GTT	p.L447V	ZNF560_uc010dwr.1_Missense_Mutation_p.L341V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	447	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						TGTCCAAAAAGAGATGGGTAA	0.403		NaN											0	0	0	1	0	32	101				
ZNF426	79088	broad.mit.edu	37	19	9639182	9639182	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9639182G>A	uc002mlq.2	-	8	1803	c.1539C>T	c.(1537-1539)TTC>TTT	p.F513F	ZNF426_uc010dws.2_Silent_p.F475F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGAACACGTGAAGGCTTTCC	0.428		NaN											0	0	0	1	0	22	81				
ZNF561	93134	broad.mit.edu	37	19	9727726	9727726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9727726G>A	uc002mlu.2	-	4	441	c.236C>T	c.(235-237)TCT>TTT	p.S79F	ZNF561_uc010dwu.2_Missense_Mutation_p.S10F|ZNF561_uc010xkr.1_5'UTR	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACCCACAGAGGCCAGGTT	0.313		NaN											0	0	0	1	0	14	62				
FBXL12	54850	broad.mit.edu	37	19	9921757	9921757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9921757G>A	uc002mme.2	-	3	1038	c.796C>T	c.(796-798)CCA>TCA	p.P266S	FBXL12_uc002mmd.2_Missense_Mutation_p.P213S|FBXL12_uc002mmf.2_Missense_Mutation_p.P213S|FBXL12_uc002mmg.2_Missense_Mutation_p.P213S|FBXL12_uc002mmh.2_Missense_Mutation_p.P213S	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266	LRR 8.						protein binding			lung(1)|kidney(1)	2						GGCATTTCTGGGGTGACGAGG	0.662		NaN											0	0	0	1	0	5	24				
DNMT1	1786	broad.mit.edu	37	19	10246920	10246920	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:10246920G>A	uc002mng.2	-	37	4665	c.4485C>T	c.(4483-4485)CTC>CTT	p.L1495L	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L419L|DNMT1_uc010xlc.1_Silent_p.L1511L|DNMT1_uc002mnh.2_Silent_p.L1390L|DNMT1_uc010xld.1_Silent_p.L1498L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1495	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCAGGGGATGAGGGTGTTGA	0.627		NaN											0	0	0	1	0	9	34				
PRKCSH	5589	broad.mit.edu	37	19	11558333	11558333	+	Missense_Mutation	SNP	C	C	T	rs142627856		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11558333C>T	uc002mrt.2	+	11	1265	c.929C>T	c.(928-930)TCG>TTG	p.S310L	PRKCSH_uc002mru.2_Missense_Mutation_p.S310L|PRKCSH_uc010xlz.1_Missense_Mutation_p.S310L|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.S310L|PRKCSH_uc010dyb.2_Missense_Mutation_p.S310L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	310					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GTGCCCTCGTCGCCCACAgag	0.463		NaN											0	0	0	1	0	6	35				
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11687567G>A	uc002msg.3	-	3	499	c.353C>T	c.(352-354)TCT>TTT	p.S118F	ACP5_uc002msh.3_Missense_Mutation_p.S118F|ACP5_uc002msi.3_Missense_Mutation_p.S118F|ACP5_uc002msj.3_Missense_Mutation_p.S118F|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						AATCTGGGCAGAGACATTGCC	0.572		NaN											0	0	0	1	0	42	131				
ZNF491	126069	broad.mit.edu	37	19	11917627	11917627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11917627C>T	uc002mso.1	+	3	1144	c.859C>T	c.(859-861)CAA>TAA	p.Q287*		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	287	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGTTCATTTCAAAGGCATGA	0.423		NaN											0	0	0	1	0	8	44				
ZNF700	90592	broad.mit.edu	37	19	12059829	12059829	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12059829G>C	uc002msu.2	+	4	1116	c.990G>C	c.(988-990)GGG>GGC	p.G330G	ZNF700_uc010xme.1_Silent_p.G348G|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCACTCTGGGAAAAAACCGT	0.373		NaN											0	0	0	1	0	20	57				
FBXW9	84261	broad.mit.edu	37	19	12800989	12800989	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12800989G>C	uc010dyx.2	-	6	879	c.879C>G	c.(877-879)CTC>CTG	p.L293L	FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	303							protein binding			ovary(1)	1						CCCAGCCCATGAGAGCATCCC	0.612		NaN											0	0	0	1	0	15	19				
FBXW9	84261	broad.mit.edu	37	19	12807065	12807065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12807065G>C	uc010dyx.2	-	1	331	c.331C>G	c.(331-333)CGC>GGC	p.R111G	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R111G|FBXW9_uc002mun.1_5'UTR	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	111	F-box.						protein binding			ovary(1)	1						ACGAGGTCGCGGAGCGCGTGG	0.622		NaN											0	0	0	1	0	5	10				
HOOK2	29911	broad.mit.edu	37	19	12885536	12885536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12885536C>T	uc002muy.2	-	3	322	c.151G>A	c.(151-153)GAG>AAG	p.E51K	HOOK2_uc002muz.2_Missense_Mutation_p.E51K|HOOK2_uc002mva.2_Missense_Mutation_p.E51K	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	51	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						AGCCATGCCTCGTTGAACCAG	0.567		NaN											0	0	0	1	0	14	39				
PRDX2	7001	broad.mit.edu	37	19	12911749	12911749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911749G>A	uc002mvd.2	-	3	388	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	PRDX2_uc002mve.1_Nonsense_Mutation_p.Q80*	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	80	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TGGGTGAACTGAGAGTCCACC	0.348		NaN											0	0	0	1	0	5	24				
PRDX2	7001	broad.mit.edu	37	19	12911751	12911751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911751G>A	uc002mvd.2	-	3	386	c.236C>T	c.(235-237)TCT>TTT	p.S79F	PRDX2_uc002mve.1_Missense_Mutation_p.S79F	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	79	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						GGTGAACTGAGAGTCCACCGA	0.353		NaN											0	0	0	1	0	6	25				
PRDX2	7001	broad.mit.edu	37	19	12911760	12911760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911760G>A	uc002mvd.2	-	3	377	c.227C>T	c.(226-228)TCG>TTG	p.S76L	PRDX2_uc002mve.1_Missense_Mutation_p.S76L	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	76	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						AGAGTCCACCGAGACGCCCAG	0.378		NaN											0	0	0	1	0	7	31				
STX10	8677	broad.mit.edu	37	19	13260331	13260331	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13260331C>G	uc010xnb.1	-	3	282	c.282G>C	c.(280-282)CGG>CGC	p.R94R	STX10_uc002mwn.2_5'UTR|STX10_uc002mwo.2_5'UTR|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	94	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCTCGCATCCGCTCCACGA	0.502		NaN											0	0	0	1	0	32	91				
CACNA1A	773	broad.mit.edu	37	19	13476255	13476255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13476255C>T	uc010dze.2	-	5	896	c.660G>A	c.(658-660)ATG>ATA	p.M220I	CACNA1A_uc002mwy.3_Missense_Mutation_p.M220I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	220	Cytoplasmic (Potential).|I.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCATCGCCTTCATGATCGACT	0.478		NaN											0	0	0	1	0	16	50				
CCDC130	81576	broad.mit.edu	37	19	13869691	13869691	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13869691G>T	uc002mxb.1	+	8	770	c.267G>T	c.(265-267)ATG>ATT	p.M89I	CCDC130_uc010xnf.1_Missense_Mutation_p.M89I|CCDC130_uc002mxc.1_Missense_Mutation_p.M89I|CCDC130_uc002mxd.1_5'UTR|CCDC130_uc010dzf.1_Intron	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	89					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGTTCCGGATGAAATGCCACC	0.632		NaN											1	0	1.26484e-09	1	1.3194e-09	6	25				
CYP4F22	126410	broad.mit.edu	37	19	15662126	15662126	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:15662126C>T	uc002nbh.3	+	14	1607	c.1440C>T	c.(1438-1440)TTC>TTT	p.F480F		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	480						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GACAGAGCTTCGCCATGGCCG	0.617		NaN											0	0	0	1	0	8	21				
CYP4F2	8529	broad.mit.edu	37	19	16000358	16000358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:16000358C>T	uc002nbs.1	-	7	843	c.793G>A	c.(793-795)GAC>AAC	p.D265N	CYP4F2_uc010xot.1_Missense_Mutation_p.D116N|CYP4F2_uc010xou.1_Missense_Mutation_p.D116N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	265					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TCTGTGAAGTCGTGCACCAGG	0.547		NaN											0	0	0	1	0	68	156				
MAST3	23031	broad.mit.edu	37	19	18239752	18239752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18239752G>C	uc002nhz.3	+	12	1127	c.1127G>C	c.(1126-1128)GGA>GCA	p.G376A		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	376	ATP (By similarity).|Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						ATTAGCAACGGAGCCTATGGG	0.597		NaN											0	0	0	1	0	18	79				
CRTC1	23373	broad.mit.edu	37	19	18876304	18876304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18876304C>T	uc002nkb.3	+	9	1065	c.977C>T	c.(976-978)TCG>TTG	p.S326L	CRTC1_uc010ebv.2_Missense_Mutation_p.S342L|CRTC1_uc010ebw.2_Missense_Mutation_p.S191L|CRTC1_uc002nkc.3_Missense_Mutation_p.S191L	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	326	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CAGCAGGCATCGCCCACCCTG	0.662		NaN											0	0	0	1	0	37	115				
COMP	1311	broad.mit.edu	37	19	18896558	18896558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18896558G>A	uc002nke.2	-	14	1629	c.1593C>T	c.(1591-1593)TTC>TTT	p.F531F	COMP_uc002nkd.2_Silent_p.F498F|COMP_uc010xqj.1_Silent_p.F478F	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	531	Mediates cell survival and induction of the IAP family of survival proteins.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GGAAGGCCCTGAAGTCGGTGA	0.632		NaN											0	0	0	1	0	28	65				
UPF1	5976	broad.mit.edu	37	19	18965463	18965463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18965463G>A	uc002nkg.2	+	9	1518	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	UPF1_uc002nkf.2_Missense_Mutation_p.E404K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	415	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGCACCTGTGGAGGTGACTCA	0.547		NaN											0	0	0	1	0	69	202				
ZNF253	56242	broad.mit.edu	37	19	20003061	20003061	+	Silent	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:20003061A>T	uc002noj.2	+	4	1097	c.1005A>T	c.(1003-1005)ACA>ACT	p.T335T	ZNF253_uc002nok.2_Silent_p.T259T|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	335				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATTCATACAGGAGAGAAAC	0.383		NaN											0	0	0	1	0	5	48				
ZNF429	353088	broad.mit.edu	37	19	21720870	21720870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:21720870G>A	uc002nqd.1	+	4	2152	c.2015G>A	c.(2014-2016)CGT>CAT	p.R672H	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						gatcgagaccgtcctggctaa	0.025		NaN											0	0	0	1	0	4	50				
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35517044G>A	uc010xse.1	+	20	2311	c.2174G>A	c.(2173-2175)TGA>TAA	p.*725*	GRAMD1A_uc002nxk.2_Silent_p.*714*|GRAMD1A_uc002nxl.2_Silent_p.*487*|GRAMD1A_uc010xsf.1_Silent_p.*726*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.*336*	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	725						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637		NaN											0	0	0	1	0	19	62				
LGI4	163175	broad.mit.edu	37	19	35616111	35616111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35616111C>G	uc002nxx.2	-	9	2194	c.1600G>C	c.(1600-1602)GAC>CAC	p.D534H	LGI4_uc002nxy.1_Missense_Mutation_p.D362H|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	534						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAGGTCGATCTCGTGA	0.647		NaN											0	0	0	1	0	18	58				
RBM42	79171	broad.mit.edu	37	19	36120478	36120478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36120478C>T	uc002oan.2	+	2	261	c.185C>T	c.(184-186)GCG>GTG	p.A62V	RBM42_uc010xsx.1_Missense_Mutation_p.A62V|RBM42_uc010eef.2_Missense_Mutation_p.A62V|RBM42_uc002oao.2_Missense_Mutation_p.A62V|RBM42_uc002oap.2_Missense_Mutation_p.A62V|RBM42_uc002oaq.2_Missense_Mutation_p.A62V|RBM42_uc010eeg.2_Missense_Mutation_p.A62V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTGCCTGCGGTGCCCACT	0.587		NaN											0	0	0	1	0	39	125				
MLL4	9757	broad.mit.edu	37	19	36221766	36221766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36221766C>G	uc010eei.2	+	27	5435	c.5435C>G	c.(5434-5436)TCA>TGA	p.S1812*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1812					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCCTTCCTCAGGTGTGGCT	0.572		NaN											0	0	0	1	0	9	12		Valid		
ZNF529	57711	broad.mit.edu	37	19	37038408	37038408	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37038408G>A	uc002oeh.3	-	5	1254	c.1052C>T	c.(1051-1053)TCA>TTA	p.S351L	ZNF529_uc010xth.1_Missense_Mutation_p.S351L|ZNF529_uc010xti.1_Missense_Mutation_p.S333L|ZNF529_uc002oeg.3_Missense_Mutation_p.S246L	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	318	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATGAGCTGTGAACTAATTCT	0.398		NaN											0	0	0	1	0	19	46				
ZNF461	92283	broad.mit.edu	37	19	37130859	37130859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37130859C>G	uc002oem.2	-	6	616	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	ZNF461_uc002oen.2_Missense_Mutation_p.E99Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E107Q	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTTAAATTCTTCCATGTTA	0.403		NaN											0	0	0	1	0	48	108				
ZNF567	163081	broad.mit.edu	37	19	37210440	37210440	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37210440C>A	uc010xtl.1	+	6	1036	c.814C>A	c.(814-816)CAG>AAG	p.Q272K	ZNF567_uc002oeo.1_Missense_Mutation_p.Q272K|ZNF567_uc010xtk.1_Missense_Mutation_p.Q272K|ZNF567_uc002oep.3_Missense_Mutation_p.Q241K|ZNF567_uc002oeq.1_Missense_Mutation_p.Q241K	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	272	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTCTGCATCAGGGAATTCA	0.333		NaN											1	0	4.096e-09	1	4.26478e-09	6	22				
ZNF568	374900	broad.mit.edu	37	19	37441842	37441842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37441842C>G	uc002ofc.2	+	7	2302	c.1787C>G	c.(1786-1788)TCT>TGT	p.S596C	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.S520C|ZNF568_uc010efe.2_Missense_Mutation_p.S520C|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	596	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTTCTCAGTGCTCA	0.403		NaN											0	0	0	1	0	19	72				
ZNF607	84775	broad.mit.edu	37	19	38200664	38200664	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38200664G>A	uc002ohc.1	-	3	665	c.69C>T	c.(67-69)CTC>CTT	p.L23L	ZNF607_uc002ohb.1_Silent_p.L23L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACCAGGCTGAGATATTCCC	0.418		NaN											0	0	0	1	0	18	59				
SIPA1L3	23094	broad.mit.edu	37	19	38610244	38610244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38610244G>C	uc002ohk.2	+	9	3099	c.2590G>C	c.(2590-2592)GAG>CAG	p.E864Q		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	864					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTGGCGCTGAGCAGCACAG	0.557		NaN											0	0	0	1	0	33	76				
YIF1B	90522	broad.mit.edu	37	19	38799901	38799901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38799901C>A	uc002ohz.2	-	3	414	c.365G>T	c.(364-366)AGA>ATA	p.R122I	YIF1B_uc002ohw.2_Missense_Mutation_p.R91I|YIF1B_uc002ohx.2_Missense_Mutation_p.R107I|YIF1B_uc010xtx.1_Missense_Mutation_p.R105I|YIF1B_uc010xty.1_Missense_Mutation_p.R91I|YIF1B_uc002oia.2_Missense_Mutation_p.R119I|YIF1B_uc002ohy.2_Missense_Mutation_p.R119I|YIF1B_uc002oib.2_Missense_Mutation_p.R119I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	122	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCAGCTTTCTGCCCACATA	0.597		NaN											1	0	4.03997e-35	1	4.31797e-35	73	246				
NFKBIB	4793	broad.mit.edu	37	19	39398291	39398291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39398291G>C	uc002ojw.2	+	5	1019	c.961G>C	c.(961-963)GAC>CAC	p.D321H	NFKBIB_uc002ojx.2_Missense_Mutation_p.D289H|NFKBIB_uc002ojy.2_Missense_Mutation_p.D321H	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	321					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGACAGCGGAGACGAGGGCGT	0.652		NaN											0	0	0	1	0	5	24				
SARS2	54938	broad.mit.edu	37	19	39435635	39435635	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39435635G>T	uc010xuq.1	-	4	380	c.172C>A	c.(172-174)CAG>AAG	p.Q58K	FBXO17_uc002okg.1_Missense_Mutation_p.Q223K|FBXO17_uc002okf.1_Missense_Mutation_p.Q232K	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	Error:Variant_position_missing_in_Q9NP81_after_alignment					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCAGTCCACTGAAGGACCGGG	0.612		NaN											1	0	7.33532e-06	1	7.51282e-06	24	112				
ZFP36	7538	broad.mit.edu	37	19	39899334	39899334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39899334G>A	uc002olh.1	+	2	1034	c.976G>A	c.(976-978)GAG>AAG	p.E326K	ZFP36_uc010egn.1_Silent_p.L198L	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	326					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGTTTCTGAGTGACAAAG	0.617		NaN											0	0	0	1	0	16	70				
HIPK4	147746	broad.mit.edu	37	19	40889768	40889768	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:40889768G>A	uc002onp.2	-	2	1029	c.744C>T	c.(742-744)TTC>TTT	p.F248F		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	248	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGCGCTTGAAGAAGTGGTGGG	0.627		NaN											0	0	0	1	0	11	97				
ITPKC	80271	broad.mit.edu	37	19	41235160	41235160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41235160G>C	uc002oot.2	+	3	1342	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	437						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGTCAGTGTGAGCAGCGCAG	0.532		NaN											0	0	0	1	0	14	56				
CYP2A13	1553	broad.mit.edu	37	19	41596470	41596470	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41596470G>T	uc002opt.2	+	4	663	c.654_splice	c.e4+1	p.Q218_splice		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CACGGGGCAGGTAACTGGCTG	0.597		NaN											1	0	2.23348e-06	1	2.29586e-06	15	103				
ZNF526	116115	broad.mit.edu	37	19	42728670	42728670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42728670G>A	uc002osz.1	+	3	271	c.115G>A	c.(115-117)GAG>AAG	p.E39K		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				AGAAGTGACTGAGATGACACC	0.542		NaN											0	0	0	1	0	49	123				
CIC	23152	broad.mit.edu	37	19	42797160	42797160	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42797160G>A	uc002otf.1	+	15	3562	c.3522G>A	c.(3520-3522)CCG>CCA	p.P1174P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1174	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGCCCAGCCCGAAGGCCCCCC	0.652		NaN	T	DUX4	soft tissue sarcoma								0	0	0	1	0	14	59				
TMEM145	284339	broad.mit.edu	37	19	42828958	42828958	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42828958C>G	uc002otk.1	+	15	1523	c.1471C>G	c.(1471-1473)CGA>GGA	p.R491G	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	491						integral to membrane					0		Prostate(69;0.00682)				TGGCCCCCTTCGAGACCTCTG	0.716		NaN											0	0	0	1	0	8	27				
MEGF8	1954	broad.mit.edu	37	19	42863100	42863100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42863100G>A	uc002otl.3	+	29	5771	c.5136G>A	c.(5134-5136)CTG>CTA	p.L1712L	MEGF8_uc002otm.3_Silent_p.L1320L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1779	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CACCTCACCTGAAGGAGGTGA	0.577		NaN											0	0	0	1	0	5	16				
KCNN4	3783	broad.mit.edu	37	19	44273668	44273668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44273668G>C	uc002oxl.2	-	6	1371	c.975C>G	c.(973-975)TTC>TTG	p.F325L	KCNN4_uc010eiz.2_Intron	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	325	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TATGTTTGTAGAACATCCAGG	0.592		NaN											0	0	0	1	0	50	127				
ZNF283	284349	broad.mit.edu	37	19	44351774	44351774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44351774C>T	uc002oxr.3	+	7	1289	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	ZNF283_uc002oxp.3_Missense_Mutation_p.H202Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAGATAATTCATACAGGTGA	0.393		NaN											0	0	0	1	0	19	49				
MARK4	57787	broad.mit.edu	37	19	45781258	45781258	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:45781258G>A	uc002pbb.1	+	9	869	c.864G>A	c.(862-864)CGG>CGA	p.R288R	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.R288R|MARK4_uc002pbc.1_Silent_p.R154R			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	288	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCATCCTGCGGAGATTTTTGG	0.572		NaN											0	0	0	1	0	45	102				
DMWD	1762	broad.mit.edu	37	19	46294229	46294229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46294229G>C	uc002pdj.1	-	2	604	c.558C>G	c.(556-558)TTC>TTG	p.F186L	DMWD_uc002pdk.1_Missense_Mutation_p.F186L	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	186					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GACCCGCTGAGAAGCCCACCA	0.562		NaN											0	0	0	1	0	40	108				
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46733686G>C	uc002pee.2	+	3	258	c.235G>C	c.(235-237)GAG>CAG	p.E79Q		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	IGF-like family member 1 precursor	79						extracellular space	protein binding				0		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572		NaN											0	0	0	1	0	40	145				
STRN4	29888	broad.mit.edu	37	19	47224014	47224014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:47224014G>C	uc002pfl.2	-	17	2140	c.2107C>G	c.(2107-2109)CTG>GTG	p.L703V	STRN4_uc002pfm.2_Missense_Mutation_p.L710V|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	703	WD 6.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637		NaN											0	0	0	1	0	10	57				
GRIN2D	2906	broad.mit.edu	37	19	48908550	48908550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:48908550C>G	uc002pjc.3	+	3	1113	c.1025C>G	c.(1024-1026)CCT>CGT	p.P342R		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	342	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGTTTCCTTCCTGAGCTCGGC	0.682		NaN											0	0	0	1	0	6	17				
HRC	3270	broad.mit.edu	37	19	49656911	49656911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:49656911G>A	uc002pmv.2	-	1	1771	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	528					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTTCAGGCTGAGGCCATGAC	0.403		NaN											0	0	0	1	0	8	26				
SCAF1	58506	broad.mit.edu	37	19	50155667	50155667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:50155667C>G	uc002poq.2	+	7	2145	c.2021C>G	c.(2020-2022)TCG>TGG	p.S674W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	674	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCCACCTCGTGTGGTGAC	0.582		NaN											0	0	0	1	0	11	23				
KLK5	25818	broad.mit.edu	37	19	51452191	51452191	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452191G>A	uc002pue.2	-	5	734	c.516C>T	c.(514-516)ATC>ATT	p.I172I	KLK5_uc002puf.2_Silent_p.I172I|KLK5_uc002pug.2_Silent_p.I172I	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	172	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGACGTTGATGGGTCTGA	0.537		NaN											0	0	0	1	0	22	85				
KLK5	25818	broad.mit.edu	37	19	51452357	51452357	+	Missense_Mutation	SNP	C	C	T	rs117067639	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452357C>T	uc002pue.2	-	5	568	c.350G>A	c.(349-351)CGT>CAT	p.R117H	KLK5_uc002puf.2_Missense_Mutation_p.R117H|KLK5_uc002pug.2_Missense_Mutation_p.R117H	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	117	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGCCGAGACGGACTCTGAA	0.498		NaN											0	0	0	1	0	29	102				
GP6	51206	broad.mit.edu	37	19	55543735	55543735	+	Missense_Mutation	SNP	G	G	C	rs28385643		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:55543735G>C	uc002qik.2	-	3	125	c.97C>G	c.(97-99)CTG>GTG	p.L33V	GP6_uc002qil.2_Missense_Mutation_p.L33V|GP6_uc010esq.2_Missense_Mutation_p.L33V|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	33	Ig-like C2-type 1.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCTGGGCAGAGCCTGGAGG	0.716		NaN											0	0	0	1	0	13	22				
NLRP5	126206	broad.mit.edu	37	19	56539034	56539034	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:56539034G>T	uc002qmj.2	+	7	1435	c.1435G>T	c.(1435-1437)GTG>TTG	p.V479L	NLRP5_uc002qmi.2_Missense_Mutation_p.V460L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	479	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCATCTGCGTGGCCCTGCA	0.617		NaN											1	0	1.99824e-07	1	2.06659e-07	16	53				
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57333096G>A	uc002qnu.2	-	4	943	c.592C>T	c.(592-594)CCT>TCT	p.P198S	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.P73S|ZIM2_uc002qnq.2_Missense_Mutation_p.P73S|ZIM2_uc010etp.2_Missense_Mutation_p.P73S|ZIM2_uc010ygs.1_Missense_Mutation_p.P73S|PEG3_uc002qnt.2_Missense_Mutation_p.P199S|PEG3_uc002qnv.2_Missense_Mutation_p.P198S|PEG3_uc002qnw.2_Missense_Mutation_p.P73S|PEG3_uc002qnx.2_Missense_Mutation_p.P72S|PEG3_uc010etr.2_Missense_Mutation_p.P198S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537		NaN											0	0	0	1	0	38	126				
ZIM3	114026	broad.mit.edu	37	19	57646567	57646567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57646567G>A	uc002qnz.1	-	5	1524	c.1138C>T	c.(1138-1140)CAA>TAA	p.Q380*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGTTT	0.373		NaN											0	0	0	1	0	27	97				
ZNF543	125919	broad.mit.edu	37	19	57840340	57840340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57840340G>A	uc002qoi.1	+	4	1855	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAGAAACCCTA	0.517		NaN											0	0	0	1	0	24	83				
ZNF552	79818	broad.mit.edu	37	19	58319728	58319728	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58319728G>C	uc002qqg.2	-	3	1074	c.904C>G	c.(904-906)CAG>GAG	p.Q302E	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.Q298E	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	302	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAAAATTTCTGACAAACCTCA	0.433		NaN											0	0	0	1	0	25	62				
C19orf18	147685	broad.mit.edu	37	19	58477903	58477903	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58477903C>A	uc002qqv.2	-	4	470	c.366G>T	c.(364-366)ATG>ATT	p.M122I		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	122	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CTTACTATATCATATAGGAGA	0.348		NaN											1	0	0.0293803	1	0.0295198	7	22				
MYT1L	23040	broad.mit.edu	37	2	1795702	1795702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:1795702C>G	uc002qxe.2	-	25	4325	c.3498G>C	c.(3496-3498)CAG>CAC	p.Q1166H	MYT1L_uc002qxd.2_Missense_Mutation_p.Q1164H|MYT1L_uc010ewk.2_Missense_Mutation_p.Q164H	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1166					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTGGACTCTGATAACGAT	0.363		NaN											0	0	0	1	0	11	30				
TTC15	51112	broad.mit.edu	37	2	3481522	3481522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:3481522G>C	uc002qxm.1	+	10	2039	c.1833G>C	c.(1831-1833)CAG>CAC	p.Q611H	TTC15_uc002qxn.1_Missense_Mutation_p.Q611H|TTC15_uc010ewm.1_Missense_Mutation_p.Q617H	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	611	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		AAGTAACACAGAAATTAGATG	0.308		NaN											0	0	0	1	0	7	35				
ITGB1BP1	9270	broad.mit.edu	37	2	9546976	9546976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:9546976G>T	uc002qzj.2	-	7	767	c.590C>A	c.(589-591)TCT>TAT	p.S197Y	ITGB1BP1_uc002qzk.2_Missense_Mutation_p.S147Y|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.S153Y|ITGB1BP1_uc002qzn.1_3'UTR	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	197	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GGGTTTCTCAGATGTTAATAC	0.368		NaN											1	0	5.3912e-06	1	5.52835e-06	18	46				
E2F6	1876	broad.mit.edu	37	2	11586617	11586617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:11586617C>A	uc002rbh.2	-	7	1124	c.832G>T	c.(832-834)GAA>TAA	p.E278*	E2F6_uc002rbe.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbf.2_Nonsense_Mutation_p.E246*|E2F6_uc002rbg.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbi.2_Nonsense_Mutation_p.E203*|E2F6_uc010yjl.1_RNA	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	278	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTTACTTCAAGCAATTCT	0.363		NaN											1	0	0.0931896	1	0.093521	12	34				
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239769	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24239769G>A	uc002reo.1	+	4	416	c.402G>A	c.(400-402)CTG>CTA	p.L134L	MFSD2B_uc010exz.1_RNA	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	134					transport	integral to membrane				ovary(2)	2						TGTGGTTCCTGCCCCCCTTCA	0.672		NaN											0	0	0	1	0	20	78				
ITSN2	50618	broad.mit.edu	37	2	24524067	24524067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24524067G>A	uc002rfe.2	-	11	1295	c.1037C>T	c.(1036-1038)TCA>TTA	p.S346L	ITSN2_uc002rff.2_Missense_Mutation_p.S346L|ITSN2_uc002rfg.2_Missense_Mutation_p.S346L|ITSN2_uc010eyd.2_Missense_Mutation_p.S371L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	346					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGATATGAAGGCAGAGT	0.338		NaN											0	0	0	1	0	17	35				
NCOA1	8648	broad.mit.edu	37	2	24929894	24929894	+	Missense_Mutation	SNP	G	G	A	rs144856306		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24929894G>A	uc002rfk.2	+	11	1813	c.1555G>A	c.(1555-1557)GTT>ATT	p.V519I	NCOA1_uc010eye.2_Missense_Mutation_p.V519I|NCOA1_uc002rfi.2_Missense_Mutation_p.V368I|NCOA1_uc002rfj.2_Missense_Mutation_p.V519I|NCOA1_uc002rfl.2_Missense_Mutation_p.V519I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	519	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTCTCCCGTTGGCATGAC	0.423		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	1	0	22	68				
DNMT3A	1788	broad.mit.edu	37	2	25457247	25457247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:25457247C>T	uc002rgc.2	-	23	2897	c.2640G>A	c.(2638-2640)ATG>ATA	p.M880I	DNMT3A_uc002rgd.2_Missense_Mutation_p.M880I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.M691I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	880					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGCGGCTCATGTTGGAGA	0.597		NaN	Mis|F|N|S		AML								0	0	0	1	0	28	58				
IFT172	26160	broad.mit.edu	37	2	27676285	27676285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27676285C>G	uc002rku.2	-	35	3968	c.3917G>C	c.(3916-3918)GGA>GCA	p.G1306A	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1306	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					GCCGCTGTTTCCAGAGTCTCG	0.587		NaN											0	0	0	1	0	19	89				
IFT172	26160	broad.mit.edu	37	2	27700949	27700949	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27700949C>T	uc002rku.2	-	11	1131	c.1080G>A	c.(1078-1080)GTG>GTA	p.V360V	IFT172_uc002rkw.2_Silent_p.V360V|IFT172_uc010yls.1_Silent_p.V339V|IFT172_uc010ezc.2_Silent_p.V360V|IFT172_uc002rkv.2_Silent_p.V334V	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	360					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTAGGATTTTCACCTCTTCCA	0.493		NaN											0	0	0	1	0	55	147				
BIRC6	57448	broad.mit.edu	37	2	32620589	32620589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32620589C>G	uc010ezu.2	+	6	1096	c.962C>G	c.(961-963)TCT>TGT	p.S321C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	321	BIR.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGCCTCATCTGGAGATGAT	0.323		NaN											0	0	0	1	0	35	83				
BIRC6	57448	broad.mit.edu	37	2	32678953	32678953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32678953C>G	uc010ezu.2	+	23	4830	c.4696C>G	c.(4696-4698)CTG>GTG	p.L1566V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTTGAACCTCTGCACTTTAC	0.383		NaN											0	0	0	1	0	24	59				
STRN	6801	broad.mit.edu	37	2	37113903	37113903	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37113903T>A	uc002rpn.2	-	8	1007	c.998A>T	c.(997-999)AAG>ATG	p.K333M	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	333					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTATTGTTCCTTGAGTTTGGT	0.403		NaN											0	0	0	1	0	20	76				
CEBPZ	10153	broad.mit.edu	37	2	37458641	37458641	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37458641C>G	uc002rpz.2	-	1	100	c.70G>C	c.(70-72)GAT>CAT	p.D24H	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	24					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCGTCCGGATCTTCTACTGCC	0.602		NaN											0	0	0	1	0	34	103				
TMEM178	130733	broad.mit.edu	37	2	39893156	39893156	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:39893156C>G	uc002rrt.2	+	1	67	c.42C>G	c.(40-42)CTC>CTG	p.L14L	TMEM178_uc010fam.1_Silent_p.L14L	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	14						integral to membrane					0		all_hematologic(82;0.248)				GCCTCGGCCTCAGCCTGTGCT	0.547		NaN											0	0	0	1	0	6	19				
PLEKHH2	130271	broad.mit.edu	37	2	43924477	43924477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:43924477G>A	uc010yny.1	+	7	753	c.670G>A	c.(670-672)GAA>AAA	p.E224K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E224K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E223K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	224						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGTTCACTGAAGGAAAAGA	0.358		NaN											0	0	0	1	0	15	44				
ABCG5	64240	broad.mit.edu	37	2	44050022	44050022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:44050022C>G	uc002rtn.2	-	10	1517	c.1377G>C	c.(1375-1377)CAG>CAC	p.Q459H	ABCG5_uc002rtm.2_Missense_Mutation_p.Q64H|ABCG5_uc002rto.2_Missense_Mutation_p.Q288H|ABCG5_uc002rtp.2_Missense_Mutation_p.Q64H	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	459	ABC transmembrane type-2.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCCACTTCTGGTAGAGGC	0.572		NaN											0	0	0	1	0	17	35				
SIX2	10736	broad.mit.edu	37	2	45236023	45236023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:45236023G>C	uc002ruo.2	-	1	520	c.227C>G	c.(226-228)TCG>TGG	p.S76W	SIX2_uc002rup.2_Missense_Mutation_p.S76W	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	76						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGGCGAGAACTGGTG	0.627		NaN											0	0	0	1	0	30	112				
EPAS1	2034	broad.mit.edu	37	2	46609643	46609643	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:46609643C>T	uc002ruv.2	+	15	2855	c.2367C>T	c.(2365-2367)ATC>ATT	p.I789I	EPAS1_uc002ruw.2_Silent_p.I255I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	789					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATCTGCCATCAGTCCCGGGG	0.592		NaN											0	0	0	1	0	36	137				
PSME4	23198	broad.mit.edu	37	2	54163918	54163918	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54163918G>T	uc002rxp.2	-	6	798	c.742C>A	c.(742-744)CTC>ATC	p.L248I	PSME4_uc010yop.1_Missense_Mutation_p.L134I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTGTGGGAGATTTTGCACT	0.353		NaN											1	0	1.10513e-12	1	1.15994e-12	21	56				
SPTBN1	6711	broad.mit.edu	37	2	54856469	54856469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54856469C>T	uc002rxu.2	+	14	2447	c.2198C>T	c.(2197-2199)TCG>TTG	p.S733L	SPTBN1_uc002rxv.1_Missense_Mutation_p.S733L|SPTBN1_uc002rxx.2_Missense_Mutation_p.S720L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	733	Spectrin 5.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAGCAGCTCTCGGCCATTCGG	0.572		NaN											0	0	0	1	0	31	96				
CCDC88A	55704	broad.mit.edu	37	2	55523455	55523455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55523455C>T	uc002ryv.2	-	30	5869	c.5027G>A	c.(5026-5028)GGA>GAA	p.G1676E	CCDC88A_uc010yoz.1_Missense_Mutation_p.G1649E|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1676E|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.G178E|CCDC88A_uc002ryu.2_Missense_Mutation_p.G931E|CCDC88A_uc002rys.2_Missense_Mutation_p.G634E|CCDC88A_uc002ryw.2_Missense_Mutation_p.G960E|CCDC88A_uc010fby.1_Missense_Mutation_p.G528E	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1677					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AACTTCACTTCCAGGGGAACC	0.398		NaN											0	0	0	1	0	16	54				
CCDC88A	55704	broad.mit.edu	37	2	55535955	55535955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55535955C>G	uc002ryv.2	-	25	5216	c.4374G>C	c.(4372-4374)AAG>AAC	p.K1458N	CCDC88A_uc010yoz.1_Missense_Mutation_p.K1459N|CCDC88A_uc010ypa.1_Missense_Mutation_p.K1458N|CCDC88A_uc010fbw.2_Missense_Mutation_p.K82N|CCDC88A_uc002ryu.2_Missense_Mutation_p.K741N|CCDC88A_uc002rys.2_Missense_Mutation_p.K444N|CCDC88A_uc002ryw.2_Missense_Mutation_p.K742N|CCDC88A_uc010fby.1_Missense_Mutation_p.K338N	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1459					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGCTGCTTTTCTTGGTCCCCA	0.393		NaN											0	0	0	1	0	14	30				
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:64112904G>C	uc002scm.2	+	6	1063	c.757G>C	c.(757-759)GAT>CAT	p.D253H	UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	253		Magnesium (By similarity).			glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GTCTAACATAGATAATCTGGG	0.388		NaN											0	0	0	1	0	19	65				
DYSF	8291	broad.mit.edu	37	2	71883391	71883391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:71883391G>C	uc002sie.2	+	42	4985	c.4609G>C	c.(4609-4611)GAA>CAA	p.E1537Q	DYSF_uc010feg.2_Missense_Mutation_p.E1568Q|DYSF_uc010feh.2_Missense_Mutation_p.E1544Q|DYSF_uc002sig.3_Missense_Mutation_p.E1523Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1558Q|DYSF_uc010fef.2_Missense_Mutation_p.E1575Q|DYSF_uc010fei.2_Missense_Mutation_p.E1554Q|DYSF_uc010fek.2_Missense_Mutation_p.E1555Q|DYSF_uc010fej.2_Missense_Mutation_p.E1545Q|DYSF_uc010fel.2_Missense_Mutation_p.E1524Q|DYSF_uc010feo.2_Missense_Mutation_p.E1569Q|DYSF_uc010fem.2_Missense_Mutation_p.E1559Q|DYSF_uc010fen.2_Missense_Mutation_p.E1576Q|DYSF_uc002sif.2_Missense_Mutation_p.E1538Q|DYSF_uc010yqy.1_Missense_Mutation_p.E418Q|DYSF_uc010yqz.1_Missense_Mutation_p.E298Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1537	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGAGGAGACAGAAGATCCATC	0.507		NaN											0	0	0	1	0	77	263				
MAT2A	4144	broad.mit.edu	37	2	85768794	85768794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85768794G>C	uc002spr.2	+	4	454	c.331G>C	c.(331-333)GAG>CAG	p.E111Q	MAT2A_uc010ysr.1_Missense_Mutation_p.E111Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E85Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E48Q|MAT2A_uc010fgm.1_Missense_Mutation_p.E48Q	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	111					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGTAGCCTTGGAGCAACAGTC	0.408		NaN											0	0	0	1	0	12	40				
MAT2A	4144	broad.mit.edu	37	2	85769496	85769496	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85769496G>T	uc002spr.2	+	6	891	c.768G>T	c.(766-768)CAG>CAT	p.Q256H	MAT2A_uc010ysr.1_Missense_Mutation_p.Q256H|MAT2A_uc010fgk.2_Missense_Mutation_p.Q230H|MAT2A_uc010fgl.2_Missense_Mutation_p.Q193H|MAT2A_uc010fgm.1_3'UTR	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	256					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGGGCCTCAGGTAATGTCAT	0.383		NaN											1	0	0.014758	1	0.0148545	5	29				
MAT2A	4144	broad.mit.edu	37	2	85770096	85770096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770096G>A	uc002spr.2	+	8	1147	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K	MAT2A_uc010ysr.1_Missense_Mutation_p.E342K|MAT2A_uc010fgk.2_Missense_Mutation_p.E316K|MAT2A_uc010fgl.2_Missense_Mutation_p.E279K	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	342					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGAAGAGTGAGAGAGAGCT	0.403		NaN											0	0	0	1	0	15	62				
MAT2A	4144	broad.mit.edu	37	2	85770102	85770102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770102G>C	uc002spr.2	+	8	1153	c.1030G>C	c.(1030-1032)GAG>CAG	p.E344Q	MAT2A_uc010ysr.1_Missense_Mutation_p.E344Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E318Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E281Q	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	344					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGTGAGAGAGAGCTATTAGA	0.408		NaN											0	0	0	1	0	17	61				
MAT2A	4144	broad.mit.edu	37	2	85770125	85770125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770125G>C	uc002spr.2	+	8	1176	c.1053G>C	c.(1051-1053)AAG>AAC	p.K351N	MAT2A_uc010ysr.1_Missense_Mutation_p.K351N|MAT2A_uc010fgk.2_Missense_Mutation_p.K325N|MAT2A_uc010fgl.2_Missense_Mutation_p.K288N	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	351					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTGAAGAAGAATTTCGATC	0.413		NaN											0	0	0	1	0	16	60				
C2orf68	388969	broad.mit.edu	37	2	85836187	85836187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85836187C>T	uc002sqc.2	-	4	454	c.382G>A	c.(382-384)GAT>AAT	p.D128N	USP39_uc002sqb.2_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	128										central_nervous_system(1)	1						CCTGGGTCATCACCCTACGTG	0.552		NaN											0	0	0	1	0	17	45				
LMAN2L	81562	broad.mit.edu	37	2	97403767	97403767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:97403767C>T	uc002swu.2	-	2	261	c.225G>A	c.(223-225)ATG>ATA	p.M75I	LMAN2L_uc002swv.2_Missense_Mutation_p.M75I|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_Intron|LMAN2L_uc010yuv.1_Intron|LMAN2L_uc010yuw.1_Intron|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	75	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						TGGCATTGCCCATCAGATTCC	0.493		NaN											0	0	0	1	0	16	24				
C2orf49	79074	broad.mit.edu	37	2	105954067	105954067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:105954067G>A	uc002tcs.1	+	1	55	c.23G>A	c.(22-24)CGC>CAC	p.R8H	C2orf49_uc010fjd.1_Missense_Mutation_p.R8H	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	8						tRNA-splicing ligase complex					0						GTGGGCGGTCGCAGCTGCACG	0.672		NaN											0	0	0	1	0	11	28				
RANBP2	5903	broad.mit.edu	37	2	109381763	109381763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109381763G>A	uc002tem.3	+	20	4894	c.4768G>A	c.(4768-4770)GAG>AAG	p.E1590K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1590					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGGTACTTCAGAGACAAGCAA	0.453		NaN											0	0	0	1	0	43	125				
CCDC138	165055	broad.mit.edu	37	2	109411132	109411132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109411132C>G	uc002ten.1	+	5	591	c.531C>G	c.(529-531)ATC>ATG	p.I177M	CCDC138_uc002teo.1_Missense_Mutation_p.I177M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	177											0						CACATCAGATCAGTCAGATAT	0.373		NaN											0	0	0	1	0	12	47				
BUB1	699	broad.mit.edu	37	2	111425410	111425410	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:111425410C>G	uc002tgc.2	-	7	696	c.584G>C	c.(583-585)GGA>GCA	p.G195A	BUB1_uc010yxh.1_Missense_Mutation_p.G175A|BUB1_uc010fkb.2_Missense_Mutation_p.G195A|BUB1_uc002tgd.2_Missense_Mutation_p.G195A	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	195					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGATATCACTCCAGAAAGCTC	0.323		NaN											0	0	0	1	0	14	72				
IL1B	3553	broad.mit.edu	37	2	113590374	113590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113590374C>T	uc002tii.1	-	5	418	c.331G>A	c.(331-333)GAG>AAG	p.E111K	IL1B_uc002tih.1_Missense_Mutation_p.E80K	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	111					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.E111K(1)		lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACATAAGCCTCGTTATCCCAT	0.488		NaN											0	0	0	1	0	29	101				
IL1F7	27178	broad.mit.edu	37	2	113676180	113676180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113676180C>T	uc002tij.2	+	5	493	c.451C>T	c.(451-453)CGC>TGC	p.R151C	IL1F7_uc002tik.2_Missense_Mutation_p.R130C|IL1F7_uc002til.2_Missense_Mutation_p.R111C|IL1F7_uc002tim.2_Missense_Mutation_p.R90C|IL1F7_uc002tin.2_Missense_Mutation_p.R125C	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	interleukin 1 family, member 7 isoform 1	151					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding				0						GGAATCAGCACGCCGGCCCTT	0.517		NaN											0	0	0	1	0	12	47				
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:121740439C>G	uc010flp.2	+	10	1696	c.1666C>G	c.(1666-1668)CGC>GGC	p.R556G	GLI2_uc002tmq.1_Missense_Mutation_p.R228G|GLI2_uc002tmr.1_Missense_Mutation_p.R211G|GLI2_uc002tmt.3_Missense_Mutation_p.R228G|GLI2_uc002tmu.3_Missense_Mutation_p.R211G|GLI2_uc002tmw.1_Missense_Mutation_p.R539G	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	556	C2H2-type 4.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627		NaN											0	0	0	1	0	18	91				
TFCP2L1	29842	broad.mit.edu	37	2	122004422	122004422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:122004422G>A	uc002tmx.2	-	6	722	c.629C>T	c.(628-630)TCA>TTA	p.S210L	TFCP2L1_uc010flr.2_Missense_Mutation_p.S210L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	210					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GCAGCTGGCTGAGTGCAGGTG	0.602		NaN											0	0	0	1	0	31	137				
IWS1	55677	broad.mit.edu	37	2	128253659	128253659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128253659C>T	uc002ton.2	-	7	1934	c.1631G>A	c.(1630-1632)AGA>AAA	p.R544K	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	544					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCGGTTCCGTCTGCGCTTGCC	0.468		NaN											0	0	0	1	0	78	249				
UGGT1	56886	broad.mit.edu	37	2	128939716	128939716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128939716G>A	uc002tps.2	+	37	4274	c.4096G>A	c.(4096-4098)GAT>AAT	p.D1366N	UGGT1_uc002tpr.2_Missense_Mutation_p.D1342N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1366	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TGTACGAACAGATCTGAAAGA	0.428		NaN											0	0	0	1	0	32	94				
SMPD4	55627	broad.mit.edu	37	2	130922009	130922009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:130922009C>T	uc002tqq.1	-	10	1439	c.919G>A	c.(919-921)GAA>AAA	p.E307K	SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Missense_Mutation_p.E85K|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.E307K|SMPD4_uc002tqs.1_Missense_Mutation_p.E175K|SMPD4_uc002tqt.1_Missense_Mutation_p.E185K|SMPD4_uc010zaa.1_Missense_Mutation_p.E194K|SMPD4_uc010zab.1_Missense_Mutation_p.E234K|SMPD4_uc010zac.1_Silent_p.L20L|SMPD4_uc010zad.1_Silent_p.L20L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	268					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCCACATTTCAACAAAAACC	0.259		NaN											0	0	0	1	0	15	33				
NCKAP5	344148	broad.mit.edu	37	2	133539884	133539884	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:133539884C>T	uc002ttp.2	-	14	4874	c.4500G>A	c.(4498-4500)CAG>CAA	p.Q1500Q	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1500							protein binding				0						GCCCAGGCTTCTGCTTTGCTT	0.473		NaN											0	0	0	1	0	25	64				
NEB	4703	broad.mit.edu	37	2	152468834	152468834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:152468834C>G	uc010fnx.2	-	74	11133	c.10942G>C	c.(10942-10944)GAG>CAG	p.E3648Q		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3648	Nebulin 100.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCACTTTCTCGACCTCTACA	0.438		NaN											0	0	0	1	0	7	38				
FMNL2	114793	broad.mit.edu	37	2	153399292	153399292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:153399292C>G	uc002tye.2	+	3	608	c.241C>G	c.(241-243)CAA>GAA	p.Q81E		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	81	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						TACATACATTCAAAAGCTCAA	0.438		NaN											0	0	0	1	0	10	36				
TANC1	85461	broad.mit.edu	37	2	160050816	160050816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050816G>A	uc002uag.2	+	17	3065	c.2791G>A	c.(2791-2793)GAA>AAA	p.E931K	TANC1_uc010zcm.1_Missense_Mutation_p.E923K|TANC1_uc010fom.1_Missense_Mutation_p.E737K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	931						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTACAGGACAGAAGTGTTAAA	0.517		NaN											0	0	0	1	0	24	87				
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050867G>A	uc002uag.2	+	17	3116	c.2842G>A	c.(2842-2844)GAG>AAG	p.E948K	TANC1_uc010zcm.1_Missense_Mutation_p.E940K|TANC1_uc010fom.1_Missense_Mutation_p.E754K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	948	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CCTTGGCCACGAGGAAGTTGT	0.557		NaN											0	0	0	1	0	23	75				
MARCH7	64844	broad.mit.edu	37	2	160599728	160599728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160599728G>A	uc002uax.2	+	3	432	c.310G>A	c.(310-312)GGG>AGG	p.G104R	MARCH7_uc010foq.2_Missense_Mutation_p.G104R|MARCH7_uc010zcn.1_Missense_Mutation_p.G104R|MARCH7_uc010for.2_Missense_Mutation_p.G66R	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	104	Ser-rich.						ligase activity|zinc ion binding				0						TACCTCAGCTGGGAGAAATGT	0.403		NaN											0	0	0	1	0	25	48				
ITGB6	3694	broad.mit.edu	37	2	161052112	161052112	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:161052112G>A	uc002ubh.2	-	4	377	c.361C>T	c.(361-363)CTG>TTG	p.L121L	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.L121L|ITGB6_uc010zcq.1_Silent_p.L79L|ITGB6_uc010fov.1_Silent_p.L121L	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	121	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TGCACCTGCAGAGTCTGCGCA	0.522		NaN											0	0	0	1	0	16	63				
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:163360985G>A	uc002uch.1	-	6	1308	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	KCNH7_uc002uci.2_Nonsense_Mutation_p.R359*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	366	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTGTGTGTTCGATCTTTAACC	0.373		NaN											0	0	0	1	0	17	63				
SCN3A	6328	broad.mit.edu	37	2	166020150	166020150	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166020150C>G	uc002ucx.2	-	7	1164	c.672G>C	c.(670-672)CTG>CTC	p.L224L	SCN3A_uc002ucy.2_Silent_p.L224L|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Silent_p.L93L|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	224	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AAATTGTTTTCAGTGCTCGGA	0.403		NaN											0	0	0	1	0	12	22				
TTC21B	79809	broad.mit.edu	37	2	166747063	166747063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166747063C>G	uc002udk.2	-	24	3322	c.3189G>C	c.(3187-3189)ATG>ATC	p.M1063I	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1063						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						AGATCTCTATCATATTATAAA	0.388		NaN											0	0	0	1	0	14	35				
SCN9A	6335	broad.mit.edu	37	2	167159651	167159651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:167159651C>T	uc010fpl.2	-	7	1191	c.850G>A	c.(850-852)GAA>AAA	p.E284K	SCN9A_uc002udr.1_Missense_Mutation_p.E155K|SCN9A_uc002uds.1_Missense_Mutation_p.E155K|SCN9A_uc002udt.1_Missense_Mutation_p.E155K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	284	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTAATGTTTCATTATTTTCA	0.343		NaN											0	0	0	1	0	6	17				
KLHL23	151230	broad.mit.edu	37	2	170606109	170606109	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:170606109G>T	uc002ufh.1	+	6	1882	c.1544G>T	c.(1543-1545)GGA>GTA	p.G515V	KLHL23_uc002ufi.1_Missense_Mutation_p.G515V|uc002ufj.3_5'Flank	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	515	Kelch 6.										0						GTCACTGGAGGATACTCCTAC	0.448		NaN											1	0	7.87624e-14	1	8.28229e-14	23	76				
GORASP2	26003	broad.mit.edu	37	2	171806117	171806117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:171806117C>G	uc002ugk.2	+	3	353	c.213C>G	c.(211-213)ATC>ATG	p.I71M	GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	71	PDZ.					Golgi membrane				breast(1)|central_nervous_system(1)	2						AGATGCTTATCTATAGCAGCA	0.438		NaN											0	0	0	1	0	31	93				
HAT1	8520	broad.mit.edu	37	2	172803292	172803292	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:172803292C>G	uc002uhi.2	+	3	253	c.177C>G	c.(175-177)CTC>CTG	p.L59L	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Intron	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	59					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCATCAACTCTTTGGGGATG	0.264		NaN											0	0	0	1	0	16	37				
ZAK	51776	broad.mit.edu	37	2	174131031	174131031	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:174131031C>G	uc002uhz.2	+	20	2156	c.1956C>G	c.(1954-1956)CTC>CTG	p.L652L	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	652					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CCCTACATCTCAACTCTAGGG	0.468		NaN											0	0	0	1	0	17	74				
CHN1	1123	broad.mit.edu	37	2	175673765	175673765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:175673765C>T	uc002uji.2	-	11	1500	c.970G>A	c.(970-972)GAG>AAG	p.E324K	CHN1_uc010zeq.1_Missense_Mutation_p.E298K|CHN1_uc002ujj.2_Missense_Mutation_p.E99K|CHN1_uc002ujg.2_Missense_Mutation_p.E199K	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	324	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTGCCTTCTCACCATCTTTT	0.318		NaN	T	TAF15	extraskeletal myxoid chondrosarcoma								0	0	0	1	0	9	32				
TTN	7273	broad.mit.edu	37	2	179399910	179399910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179399910G>A	uc010zfg.1	-	307	93952	c.93728C>T	c.(93727-93729)TCA>TTA	p.S31243L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24938L|TTN_uc010zfi.1_Missense_Mutation_p.S24871L|TTN_uc010zfj.1_Missense_Mutation_p.S24746L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32170							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTGGTTGAAGAGTGAGA	0.408		NaN											0	0	0	1	0	18	59				
TTN	7273	broad.mit.edu	37	2	179478785	179478785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179478785G>A	uc010zfg.1	-	211	41859	c.41635C>T	c.(41635-41637)CAG>TAG	p.Q13879*	uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7574*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7507*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7382*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14806							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACCAAACTGATATTTGGCT	0.343		NaN											0	0	0	1	0	7	19				
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179640629C>T	uc010zfg.1	-	28	6186	c.5962G>A	c.(5962-5964)GAA>AAA	p.E1988K	TTN_uc010zfh.1_Missense_Mutation_p.E1942K|TTN_uc010zfi.1_Missense_Mutation_p.E1942K|TTN_uc010zfj.1_Missense_Mutation_p.E1942K|TTN_uc002unb.2_Missense_Mutation_p.E1988K|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1988							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACTTTTTCATGGGTAATT	0.443		NaN											0	0	0	1	0	41	149				
ZNF385B	151126	broad.mit.edu	37	2	180348114	180348114	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:180348114G>C	uc002unn.3	-	6	1159	c.555C>G	c.(553-555)GTC>GTG	p.V185V	ZNF385B_uc002unj.2_Silent_p.V83V|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.V82V|ZNF385B_uc002unm.2_Silent_p.V109V	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	185	Matrin-type 2.					nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTAGTGCTTTGACCTTCTTGG	0.458		NaN											0	0	0	1	0	10	66				
STAT1	6772	broad.mit.edu	37	2	191854376	191854376	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:191854376C>T	uc002usj.2	-	12	1450	c.1062G>A	c.(1060-1062)CTG>CTA	p.L354L	STAT1_uc010fse.1_Silent_p.L354L|STAT1_uc002usk.2_Silent_p.L354L|STAT1_uc002usl.2_Silent_p.L356L|STAT1_uc010fsf.1_Silent_p.L166L	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	354					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AATTATAATTCAGCTCTTGCA	0.249		NaN											0	0	0	1	0	4	5				
HECW2	57520	broad.mit.edu	37	2	197157303	197157303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:197157303C>T	uc002utm.1	-	14	3169	c.2986G>A	c.(2986-2988)GAT>AAT	p.D996N	HECW2_uc002utl.1_Missense_Mutation_p.D640N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	996	Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CCCTGGTGATCATGTTTCATT	0.552		NaN											0	0	0	1	0	29	84				
HSPD1	3329	broad.mit.edu	37	2	198353941	198353941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:198353941G>A	uc002uui.2	-	9	1137	c.1000C>T	c.(1000-1002)CTT>TTT	p.L334F	HSPD1_uc002uuj.2_Missense_Mutation_p.L332F|HSPD1_uc010zgx.1_Missense_Mutation_p.L325F|HSPD1_uc010fsm.2_Missense_Mutation_p.L145F|HSPD1_uc002uuk.2_Missense_Mutation_p.L334F	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	334					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ACGTCTTCAAGATTCAGGGTC	0.398		NaN											0	0	0	1	0	19	42				
NIF3L1	60491	broad.mit.edu	37	2	201760084	201760084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201760084C>T	uc002uwm.2	+	4	788	c.697C>T	c.(697-699)CAG>TAG	p.Q233*	NIF3L1_uc002uwl.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwn.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwo.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwp.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwq.2_Nonsense_Mutation_p.Q233*	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	233					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						ACAACTTTATCAGAAGACGGA	0.328		NaN											0	0	0	1	0	17	57				
NIF3L1	60491	broad.mit.edu	37	2	201768234	201768234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201768234G>A	uc002uwm.2	+	7	1058	c.967G>A	c.(967-969)GAT>AAT	p.D323N	NIF3L1_uc002uwl.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwn.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwo.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwp.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwq.2_Missense_Mutation_p.M276I	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	323					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GTCCCATCATGATACTTTGGA	0.408		NaN											0	0	0	1	0	23	68				
CASP8	841	broad.mit.edu	37	2	202139648	202139648	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202139648C>G	uc002uxr.1	+	7	841	c.632C>G	c.(631-633)TCT>TGT	p.S211C	CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Missense_Mutation_p.S228C|CASP8_uc002uxq.1_Missense_Mutation_p.S196C|CASP8_uc002uxt.1_Missense_Mutation_p.S270C|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.S196C|CASP8_uc002uxw.1_Missense_Mutation_p.S196C|CASP8_uc002uxy.1_Missense_Mutation_p.S211C|CASP8_uc002uxx.1_Missense_Mutation_p.S196C|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	211					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						ATCTCGGACTCTCCAAGAGAA	0.388		NaN								HNSCC(4;0.00038)			0	0	0	1	0	11	27				
ALS2CR11	151254	broad.mit.edu	37	2	202430471	202430471	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202430471G>C	uc002uye.2	-	9	1006	c.958C>G	c.(958-960)CAG>GAG	p.Q320E	ALS2CR11_uc002uyf.2_Missense_Mutation_p.Q320E|ALS2CR11_uc010fti.2_Missense_Mutation_p.Q320E	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	320										large_intestine(1)|ovary(1)|skin(1)	3						GGTTGTTGCTGAAGTTTTTCA	0.358		NaN											0	0	0	1	0	4	12				
ALS2CR8	79800	broad.mit.edu	37	2	203847053	203847053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:203847053G>C	uc002uzo.2	+	15	2228	c.1948G>C	c.(1948-1950)GAA>CAA	p.E650Q	ALS2CR8_uc010zia.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E562Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E650Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	650										large_intestine(1)|ovary(1)	2						CGAGCTGGTAGAAGTTGGAGA	0.428		NaN											0	0	0	1	0	10	42				
NBEAL1	65065	broad.mit.edu	37	2	204002904	204002904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204002904G>C	uc002uzt.3	+	29	4831	c.4498G>C	c.(4498-4500)GAA>CAA	p.E1500Q	NBEAL1_uc002uzs.3_Missense_Mutation_p.E210Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1500							binding			ovary(1)|skin(1)	2						AAAGATGTTAGAATGGGCAAT	0.358		NaN											0	0	0	1	0	12	32				
RAPH1	65059	broad.mit.edu	37	2	204354725	204354725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354725G>A	uc002vad.2	-	4	539	c.314C>T	c.(313-315)TCA>TTA	p.S105L	RAPH1_uc002vae.2_Missense_Mutation_p.S105L|RAPH1_uc002vaf.2_Missense_Mutation_p.S105L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	105					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ACTGTTTCCTGAACCAATGCT	0.443		NaN											0	0	0	1	0	32	120				
RAPH1	65059	broad.mit.edu	37	2	204354805	204354805	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354805C>T	uc002vad.2	-	4	459	c.234G>A	c.(232-234)CTG>CTA	p.L78L	RAPH1_uc002vae.2_Silent_p.L78L|RAPH1_uc002vaf.2_Silent_p.L78L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	78					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						CTCCCTGATTCAGAGCTTCTG	0.378		NaN											0	0	0	1	0	17	87				
PARD3B	117583	broad.mit.edu	37	2	206166207	206166207	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206166207C>T	uc002var.1	+	18	2619	c.2412C>T	c.(2410-2412)AGC>AGT	p.S804S	PARD3B_uc010fub.1_Silent_p.S804S|PARD3B_uc002vao.1_Silent_p.S804S|PARD3B_uc002vap.1_Silent_p.S742S|PARD3B_uc002vaq.1_Silent_p.S735S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	804					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGATAAGAGCTCTCACTCTG	0.438		NaN											0	0	0	1	0	31	82				
INO80D	54891	broad.mit.edu	37	2	206882459	206882459	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206882459G>A	uc002vaz.3	-	8	1892	c.1487C>T	c.(1486-1488)CCA>CTA	p.P496L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	496					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GTCAAAAACTGGCACAGAGCA	0.363		NaN											0	0	0	1	0	11	32				
ZDBF2	57683	broad.mit.edu	37	2	207169625	207169625	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207169625C>G	uc002vbp.2	+	5	623	c.373C>G	c.(373-375)CAG>GAG	p.Q125E		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	125							nucleic acid binding|zinc ion binding			ovary(3)	3						TCATAAATCTCAGGAAGGCAC	0.468		NaN											0	0	0	1	0	9	27				
DYTN	391475	broad.mit.edu	37	2	207559580	207559580	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207559580G>C	uc002vbr.1	-	8	858	c.741C>G	c.(739-741)CTC>CTG	p.L247L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	247	ZZ-type.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTCAAAGTTGAGACACTTCA	0.393		NaN											0	0	0	1	0	18	47				
PIKFYVE	200576	broad.mit.edu	37	2	209203277	209203277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:209203277C>T	uc002vcz.2	+	29	4815	c.4657C>T	c.(4657-4659)CAG>TAG	p.Q1553*		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1553					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TCCAGGACTTCAGAATGGAGA	0.348		NaN											0	0	0	1	0	8	35				
CPS1	1373	broad.mit.edu	37	2	211476905	211476905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211476905C>G	uc002vee.3	+	20	2588	c.2456C>G	c.(2455-2457)TCT>TGT	p.S819C	CPS1_uc010fur.2_Missense_Mutation_p.S825C|CPS1_uc010fus.2_Missense_Mutation_p.S368C	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	819					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCCACCCATCTATAGAAGGT	0.413		NaN											0	0	0	1	0	34	89				
CPS1	1373	broad.mit.edu	37	2	211513244	211513244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211513244G>C	uc002vee.3	+	27	3516	c.3384G>C	c.(3382-3384)TTG>TTC	p.L1128F	CPS1_uc010fur.2_Missense_Mutation_p.L1134F|CPS1_uc010fus.2_Missense_Mutation_p.L677F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1128	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTGCTTGTTGAGGCCTTCCT	0.333		NaN											0	0	0	1	0	21	79				
ABCA12	26154	broad.mit.edu	37	2	215875150	215875150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:215875150C>G	uc002vew.2	-	18	2597	c.2377G>C	c.(2377-2379)GCT>CCT	p.A793P	ABCA12_uc002vev.2_Missense_Mutation_p.A475P|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	793					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGGTCCAGCGGGCATGTTA	0.373		NaN											0	0	0	1	0	10	27				
TNS1	7145	broad.mit.edu	37	2	218674590	218674590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:218674590G>C	uc002vgt.2	-	30	5315	c.4917C>G	c.(4915-4917)TTC>TTG	p.F1639L	TNS1_uc002vgr.2_Missense_Mutation_p.F1625L|TNS1_uc002vgs.2_Missense_Mutation_p.F1618L|TNS1_uc002vgq.2_Missense_Mutation_p.F139L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1639						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGAGACTTTGAAGTGAACGA	0.552		NaN											0	0	0	1	0	13	43				
ARPC2	10109	broad.mit.edu	37	2	219114098	219114098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:219114098C>T	uc002vhd.2	+	9	800	c.688C>T	c.(688-690)CGT>TGT	p.R230C	ARPC2_uc002vhe.2_Missense_Mutation_p.R230C|ARPC2_uc002vhf.2_Missense_Mutation_p.R116C	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	230					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GCTGTTCCCTCGTCACACCAA	0.542		NaN											0	0	0	1	0	11	31				
NHEJ1	79840	broad.mit.edu	37	2	220022967	220022967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220022967C>T	uc002vjp.3	-	2	264	c.118G>A	c.(118-120)GAT>AAT	p.D40N	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	40					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGTTGAAGATCTGAAACCAAC	0.527		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	1	0	31	121				
SLC23A3	151295	broad.mit.edu	37	2	220032963	220032963	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220032963G>C	uc010zks.1	-	6	863	c.752C>G	c.(751-753)TCA>TGA	p.S251*	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.S259*|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q241E|SLC23A3_uc002vjs.1_Missense_Mutation_p.F103L|SLC23A3_uc002vjt.1_Missense_Mutation_p.F110L	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	251	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGTTGAAGCTCGCCT	0.577		NaN											0	0	0	1	0	11	32				
FAM134A	79137	broad.mit.edu	37	2	220046485	220046485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220046485G>A	uc002vjw.3	+	8	1139	c.1003G>A	c.(1003-1005)GAT>AAT	p.D335N	FAM134A_uc010fwc.2_Missense_Mutation_p.D128N|FAM134A_uc002vjx.2_Missense_Mutation_p.D128N	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	335						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGACTGATGTCTCCGA	0.577		NaN											0	0	0	1	0	21	88				
ATG9A	79065	broad.mit.edu	37	2	220085587	220085587	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220085587G>C	uc002vke.1	-	15	2582	c.2396C>G	c.(2395-2397)TCT>TGT	p.S799C	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.S799C	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	799	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAATGAGAGGGAACCCT	0.577		NaN											0	0	0	1	0	19	64				
STK11IP	114790	broad.mit.edu	37	2	220474164	220474164	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220474164G>A	uc002vml.2	+	17	2082	c.2039G>A	c.(2038-2040)AGA>AAA	p.R680K	STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Missense_Mutation_p.R669K	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	680					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTGGGTAGATTCCAGTGT	0.582		NaN											0	0	0	1	0	5	20				
SLC4A3	6508	broad.mit.edu	37	2	220502408	220502408	+	Missense_Mutation	SNP	G	G	A	rs140581019	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220502408G>A	uc002vmp.3	+	17	2910	c.2641G>A	c.(2641-2643)GAG>AAG	p.E881K	SLC4A3_uc002vmo.3_Missense_Mutation_p.E908K|SLC4A3_uc010fwm.2_Missense_Mutation_p.E431K|SLC4A3_uc010fwn.1_Missense_Mutation_p.E390K	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	881	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647		NaN											0	0	0	1	0	23	77				
CCDC140	151278	broad.mit.edu	37	2	223169063	223169063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:223169063G>A	uc002vnb.1	+	2	826	c.442G>A	c.(442-444)GAG>AAG	p.E148K		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	148	Potential.										0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aaagaagaaagagagaaagag	0.403		NaN											0	0	0	1	0	5	26				
DOCK10	55619	broad.mit.edu	37	2	225666692	225666692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:225666692C>T	uc010fwz.1	-	40	4573	c.4334G>A	c.(4333-4335)CGA>CAA	p.R1445Q	DOCK10_uc002vob.2_Missense_Mutation_p.R1439Q|DOCK10_uc002voa.2_Missense_Mutation_p.R101Q|DOCK10_uc002voc.2_Missense_Mutation_p.R299Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1445							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTTTTGCCTCGAATTATAGG	0.368		NaN											0	0	0	1	0	17	62				
COL4A4	1286	broad.mit.edu	37	2	227898175	227898175	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:227898175C>G	uc010zlt.1	-	38	4182	c.3528G>C	c.(3526-3528)CTG>CTC	p.L1176L		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1176	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAAGCCGTTCAGGCCAGGTG	0.522		NaN									OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	15	48				
TRIP12	9320	broad.mit.edu	37	2	230723619	230723619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:230723619G>A	uc002vpw.1	-	3	879	c.770C>T	c.(769-771)TCT>TTT	p.S257F	TRIP12_uc002vpx.1_Missense_Mutation_p.S299F|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S257F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATTTTGAAGAGCCACCAGT	0.473		NaN											0	0	0	1	0	21	67				
SP100	6672	broad.mit.edu	37	2	231379918	231379918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:231379918G>A	uc002vqt.2	+	25	2344	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	735	HMG box 1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAATTTGAAGATATGGC	0.388		NaN											0	0	0	1	0	23	73				
ARMC9	80210	broad.mit.edu	37	2	232100023	232100023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232100023G>A	uc002vrq.3	+	8	821	c.709G>A	c.(709-711)GAC>AAC	p.D237N	ARMC9_uc002vrp.3_Missense_Mutation_p.D237N	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	237							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATCCAGGCCGACTACCACAA	0.488		NaN											0	0	0	1	0	11	40				
ARMC9	80210	broad.mit.edu	37	2	232143143	232143143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232143143C>A	uc002vrq.3	+	16	1635	c.1523C>A	c.(1522-1524)TCG>TAG	p.S508*	ARMC9_uc002vrp.3_Nonsense_Mutation_p.S508*|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	508							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAAGTCCTTTCGGATCTTCTT	0.507		NaN											1	0	2.95478e-19	1	3.13632e-19	40	106				
DGKD	8527	broad.mit.edu	37	2	234343511	234343511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234343511C>G	uc002vui.1	+	5	562	c.550C>G	c.(550-552)CTG>GTG	p.L184V	DGKD_uc002vuj.1_Missense_Mutation_p.L140V|DGKD_uc010fyh.1_Missense_Mutation_p.L51V|DGKD_uc002vuk.1_Missense_Mutation_p.L51V	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	184	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGTGAGGCTCTGTCTGGGGT	0.567		NaN											0	0	0	1	0	48	163				
UGT1A5	54579	broad.mit.edu	37	2	234621763	234621763	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234621763C>G	uc002vuw.2	+	1	126	c.126C>G	c.(124-126)CTC>CTG	p.L42L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L42L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	42					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCACTGGCTCAGCATGCGGG	0.602		NaN											0	0	0	1	0	17	72				
ARL4C	10123	broad.mit.edu	37	2	235404739	235404739	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235404739G>A	uc002vvn.2	-	1	955	c.492C>T	c.(490-492)ATC>ATT	p.I164I	ARL4C_uc002vvm.3_Silent_p.I164I	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	164					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGCCCTCGCCGATGATGGCGC	0.617		NaN											0	0	0	1	0	18	57				
SH3BP4	23677	broad.mit.edu	37	2	235962340	235962340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235962340G>A	uc002vvp.2	+	6	3165	c.2772G>A	c.(2770-2772)ATG>ATA	p.M924I	SH3BP4_uc010fym.2_Missense_Mutation_p.M906I|SH3BP4_uc002vvq.2_Missense_Mutation_p.M924I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	924					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACAAGATGAAAAACCCCA	0.582		NaN											0	0	0	1	0	49	153				
OR6B3	150681	broad.mit.edu	37	2	240984886	240984886	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:240984886G>C	uc010zoe.1	-	1	604	c.604C>G	c.(604-606)CTG>GTG	p.L202V	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGAAGGCCAGAATGAAATCC	0.577		NaN											0	0	0	1	0	15	71				
ATG4B	23192	broad.mit.edu	37	2	242594013	242594013	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:242594013C>G	uc002wbv.2	+	5	439	c.336C>G	c.(334-336)CTC>CTG	p.L112L	ATG4B_uc002wbu.2_Silent_p.L38L|ATG4B_uc002wbw.2_Silent_p.L112L|ATG4B_uc010zox.1_Silent_p.L98L|ATG4B_uc010zoy.1_Silent_p.L38L|ATG4B_uc010fzp.2_Silent_p.L112L|ATG4B_uc010zoz.1_Silent_p.L38L	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	112					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TCAGCGTCCTCAACGCATTCA	0.502		NaN											0	0	0	1	0	5	10				
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3102035G>A	uc002whw.2	-	3	1420	c.1250C>T	c.(1249-1251)TCG>TTG	p.S417L	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	417						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						ATTACCTGTCGAGCAGTCCAT	0.527		NaN											0	0	0	1	0	12	55				
CENPB	1059	broad.mit.edu	37	20	3765738	3765738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3765738C>T	uc002wjk.2	-	1	1600	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	465	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						GAGGAGCTCTCCTCATCTTCC	0.418		NaN											0	0	0	1	0	17	59				
TMX4	56255	broad.mit.edu	37	20	7964486	7964486	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:7964486C>G	uc002wmx.1	-	7	767	c.634G>C	c.(634-636)GAA>CAA	p.E212Q		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis|electron transport chain|transport	integral to membrane					0						TAGAAACATTCTGATATTACC	0.388		NaN											0	0	0	1	0	12	43				
NKX2-2	4821	broad.mit.edu	37	20	21492922	21492922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:21492922G>T	uc002wsi.2	-	2	818	c.461C>A	c.(460-462)TCG>TAG	p.S154*		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	154	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						CTCGGGCGCCGACAGGTACCG	0.672		NaN											1	0	1.12685e-05	1	1.14925e-05	9	33				
FOXA2	3170	broad.mit.edu	37	20	22562719	22562719	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:22562719G>A	uc002wsn.2	-	3	1333	c.1143C>T	c.(1141-1143)CTC>CTT	p.L381L	FOXA2_uc002wsm.2_Silent_p.L387L	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	381	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					CCGAGGACATGAGGTTGTTGA	0.552		NaN											0	0	0	1	0	13	33				
ASXL1	171023	broad.mit.edu	37	20	31022245	31022245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:31022245C>G	uc002wxs.2	+	12	2156	c.1730C>G	c.(1729-1731)TCA>TGA	p.S577*	ASXL1_uc010geb.2_Nonsense_Mutation_p.S468*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	577					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ATTCAACTTTCACGTATCAAA	0.473		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	18	103				
GGT7	2686	broad.mit.edu	37	20	33439105	33439105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33439105C>T	uc002xay.2	-	13	1697	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K	GGT7_uc010gex.2_RNA|GGT7_uc002xaz.1_Missense_Mutation_p.E569K	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	552	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CAGAGCCCCTCCGCGGGTCGG	0.622		NaN											0	0	0	1	0	28	67				
GGT7	2686	broad.mit.edu	37	20	33440073	33440073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33440073G>A	uc002xay.2	-	12	1515	c.1472C>T	c.(1471-1473)TCC>TTC	p.S491F	GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S508F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	491	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CTGGTTCAGGGAGCTGGGGGC	0.637		NaN											0	0	0	1	0	18	46				
FAM83C	128876	broad.mit.edu	37	20	33874440	33874440	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33874440G>C	uc010zux.1	-	4	2260	c.2142C>G	c.(2140-2142)GTC>GTG	p.V714V	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V369V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	714										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCATCCCTGACCAGGTCAC	0.552		NaN											0	0	0	1	0	39	102				
CEP250	11190	broad.mit.edu	37	20	34065849	34065849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065849G>T	uc002xcm.2	+	18	2688	c.2017G>T	c.(2017-2019)GAG>TAG	p.E673*	CEP250_uc010zve.1_Nonsense_Mutation_p.E41*|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	673	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAGCTGAGGAGGCTGGGGC	0.527		NaN											1	0	0.000602214	1	0.000609414	5	33				
CEP250	11190	broad.mit.edu	37	20	34065861	34065861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065861G>C	uc002xcm.2	+	18	2700	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	CEP250_uc010zve.1_Missense_Mutation_p.E45Q|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	677	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCTGGGGCTGAGCTGCAGGC	0.532		NaN											0	0	0	1	0	5	40				
NFS1	9054	broad.mit.edu	37	20	34261595	34261595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34261595G>C	uc002xdw.1	-	11	1212	c.1148C>G	c.(1147-1149)TCT>TGT	p.S383C	CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.S323C|NFS1_uc002xdu.1_Missense_Mutation_p.S323C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.S181C|NFS1_uc010zvl.1_Missense_Mutation_p.S332C	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	383					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGGGATGCAGAGGTGCAGGC	0.493		NaN											0	0	0	1	0	17	57				
NFS1	9054	broad.mit.edu	37	20	34262520	34262520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34262520G>C	uc002xdw.1	-	9	1032	c.968C>G	c.(967-969)TCA>TGA	p.S323*	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdu.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Nonsense_Mutation_p.S121*|NFS1_uc010zvl.1_Nonsense_Mutation_p.S272*	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	323					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACAACTTTGAGATTCGCTT	0.463		NaN											0	0	0	1	0	13	60				
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:35929739G>A	uc002xgu.2	+	3	285	c.73G>A	c.(73-75)GGA>AGA	p.G25R	MANBAL_uc002xgv.2_Missense_Mutation_p.G25R|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	25	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597		NaN											0	0	0	1	0	24	90				
SLC32A1	140679	broad.mit.edu	37	20	37357157	37357157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:37357157C>G	uc002xjc.2	+	2	1716	c.1453C>G	c.(1453-1455)CTG>GTG	p.L485V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	485	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGCGCAAGCTGCTGTGGCA	0.652		NaN											0	0	0	1	0	16	42				
SFRS6	6431	broad.mit.edu	37	20	42088739	42088739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088739G>T	uc010zwg.1	+	4	618	c.448G>T	c.(448-450)GTA>TTA	p.V150L	SFRS6_uc002xki.2_Missense_Mutation_p.V21L|SFRS6_uc002xkk.2_Missense_Mutation_p.V150L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	150	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAATGAGGGTGTAATTGAGTT	0.428		NaN											1	0	2.27111e-07	1	2.34737e-07	13	61				
SFRS6	6431	broad.mit.edu	37	20	42088812	42088812	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088812G>C	uc010zwg.1	+	4	691	c.521G>C	c.(520-522)AGA>ACA	p.R174T	SFRS6_uc002xki.2_Missense_Mutation_p.R45T|SFRS6_uc002xkk.2_Missense_Mutation_p.R174T	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	174	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATAAATGGCAGAAATATTAGG	0.453		NaN											0	0	0	1	0	13	44				
TP53TG5	27296	broad.mit.edu	37	20	44003758	44003758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44003758G>A	uc002xny.2	-	4	770	c.689C>T	c.(688-690)TCC>TTC	p.S230F	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	230					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						ACGCAGGGTGGAGGATCTGCA	0.597		NaN											0	0	0	1	0	28	79				
PCIF1	63935	broad.mit.edu	37	20	44573623	44573623	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44573623G>C	uc002xqs.2	+	11	1436	c.1122G>C	c.(1120-1122)CGG>CGC	p.R374R	PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	374						nucleus				skin(1)	1						ACGTCAAACGGATCCGAGAGA	0.572		NaN											0	0	0	1	0	7	36				
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44574946C>T	uc002xqs.2	+	14	1850	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F	PCIF1_uc002xqt.2_Silent_p.F92F|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	512						nucleus				skin(1)	1						TCGAGTGCTTCGCCTCACCCC	0.642		NaN											0	0	0	1	0	55	163				
SLC12A5	57468	broad.mit.edu	37	20	44678355	44678355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44678355G>A	uc010zxl.1	+	17	2252	c.2176G>A	c.(2176-2178)GGC>AGC	p.G726S	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G703S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	726					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCGGGGAAGGGCCTGACCAT	0.622		NaN											0	0	0	1	0	3	8				
ZNF334	55713	broad.mit.edu	37	20	45130355	45130355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:45130355C>T	uc002xsc.2	-	5	1807	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E	ZNF334_uc002xsa.2_Silent_p.E564E|ZNF334_uc002xsb.2_Silent_p.E503E|ZNF334_uc002xsd.2_Silent_p.E503E|ZNF334_uc010ghl.2_Silent_p.E540E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CATATGGTCTCTCCCATATAG	0.448		NaN											0	0	0	1	0	40	149				
CSE1L	1434	broad.mit.edu	37	20	47706100	47706100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:47706100G>A	uc002xty.2	+	19	2132	c.1998G>A	c.(1996-1998)GTG>GTA	p.V666V	CSE1L_uc010zyg.1_Silent_p.V449V|CSE1L_uc010ghx.2_Silent_p.V610V|CSE1L_uc010ghy.2_Silent_p.V287V|CSE1L_uc010zyh.1_Silent_p.V315V	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	666					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTTCAAGTGATGTCTTTGC	0.413		NaN											0	0	0	1	0	14	67				
SALL4	57167	broad.mit.edu	37	20	50418832	50418832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:50418832G>A	uc002xwh.3	-	1	217	c.116C>T	c.(115-117)GCG>GTG	p.A39V	SALL4_uc010gii.2_Missense_Mutation_p.A39V|SALL4_uc002xwi.3_Missense_Mutation_p.A39V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	39					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTcccccgccgcgggcgccgc	0.612		NaN											0	0	0	1	0	4	19				
STX16	8675	broad.mit.edu	37	20	57245657	57245657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:57245657C>T	uc002xzi.2	+	6	1381	c.646C>T	c.(646-648)CGG>TGG	p.R216W	STX16_uc010zzq.1_Missense_Mutation_p.R30W|STX16_uc002xzk.2_Missense_Mutation_p.R199W|STX16_uc002xzm.2_Missense_Mutation_p.R212W|STX16_uc002xzj.2_Missense_Mutation_p.R195W|STX16_uc002xzl.2_Missense_Mutation_p.R30W	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	216	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCTTTACCATCGGGTACGTGA	0.473		NaN											0	0	0	1	0	20	63				
PHACTR3	116154	broad.mit.edu	37	20	58330240	58330240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:58330240C>T	uc002yau.2	+	4	829	c.362C>T	c.(361-363)GCT>GTT	p.A121V	PHACTR3_uc002yat.2_Missense_Mutation_p.A118V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A80V|PHACTR3_uc002yav.2_Missense_Mutation_p.A80V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A80V|PHACTR3_uc002yax.2_Missense_Mutation_p.A80V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	121						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTGTAGATGCTGAAAGCAAA	0.537		NaN											0	0	0	1	0	13	43				
DIDO1	11083	broad.mit.edu	37	20	61524224	61524224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61524224C>G	uc002ydr.1	-	13	3456	c.3192G>C	c.(3190-3192)CAG>CAC	p.Q1064H	DIDO1_uc002yds.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydt.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydu.1_Missense_Mutation_p.Q1064H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1064					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTGCCACACTCTGCATGTTAA	0.448		NaN											0	0	0	1	0	17	64				
EEF1A2	1917	broad.mit.edu	37	20	62127331	62127331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62127331C>G	uc002yfd.1	-	2	303	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.E68Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.E68Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	68						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGCCGCGCTCACGCTCCGCC	0.612		NaN									OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	36	118				
STMN3	50861	broad.mit.edu	37	20	62275251	62275251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62275251G>C	uc002yfr.1	-	3	231	c.149C>G	c.(148-150)TCA>TGA	p.S50*	STMN3_uc011abb.1_Nonsense_Mutation_p.S50*	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	50					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GCTCTGGCCTGAGGCCCGCTT	0.627		NaN											0	0	0	1	0	31	110				
CLDN17	26285	broad.mit.edu	37	21	31538639	31538639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:31538639G>C	uc011acv.1	-	1	297	c.297C>G	c.(295-297)ATC>ATG	p.I99M		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	99	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						TCATGCCACAGATGCCAATAA	0.567		NaN											0	0	0	1	0	37	83				
C21orf45	54069	broad.mit.edu	37	21	33651219	33651219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:33651219G>C	uc002ypi.2	-	1	158	c.107C>G	c.(106-108)TCC>TGC	p.S36C	C21orf45_uc011adn.1_Missense_Mutation_p.S36C	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	36					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0						CGAGTCTTCGGAGAGTCTCTT	0.637		NaN											0	0	0	1	0	16	57				
GCFC1	94104	broad.mit.edu	37	21	34133456	34133456	+	Missense_Mutation	SNP	C	C	G	rs79555426	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:34133456C>G	uc002yqn.2	-	5	1079	c.889G>C	c.(889-891)GAT>CAT	p.D297H	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D297H|GCFC1_uc002yqr.2_Missense_Mutation_p.D297H	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	297						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AAAGCATCATCATCACTCCCC	0.423		NaN											0	0	0	1	0	60	194				
KCNE2	9992	broad.mit.edu	37	21	35743045	35743045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:35743045G>C	uc002ytt.1	+	2	408	c.268G>C	c.(268-270)GAG>CAG	p.E90Q		NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related	90	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						GTACATTGTAGAGGACTGGCA	0.483		NaN											0	0	0	1	0	14	39				
DOPEY2	9980	broad.mit.edu	37	21	37617591	37617591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617591G>C	uc002yvg.2	+	19	3392	c.3313G>C	c.(3313-3315)GAC>CAC	p.D1105H	DOPEY2_uc011aeb.1_Missense_Mutation_p.D1054H|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1105					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CGGCGCCCCGGACAGCAGCGA	0.647		NaN											0	0	0	1	0	21	104				
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617864G>A	uc002yvg.2	+	19	3665	c.3586G>A	c.(3586-3588)GAG>AAG	p.E1196K	DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1196					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CTCCAGCGACGAGGAGGCGGA	0.617		NaN											0	0	0	1	0	22	71				
DOPEY2	9980	broad.mit.edu	37	21	37618604	37618604	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618604G>A	uc002yvg.2	+	19	4405	c.4326G>A	c.(4324-4326)CTG>CTA	p.L1442L	DOPEY2_uc011aeb.1_Silent_p.L1391L|DOPEY2_uc002yvh.2_Silent_p.L293L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1442					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTGAGCTGCTGAAGCTGCTGC	0.612		NaN											0	0	0	1	0	16	43				
DOPEY2	9980	broad.mit.edu	37	21	37618697	37618697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618697G>C	uc002yvg.2	+	19	4498	c.4419G>C	c.(4417-4419)CAG>CAC	p.Q1473H	DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1422H|DOPEY2_uc002yvh.2_Missense_Mutation_p.Q324H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1473					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GGGAGTGGCAGAGAGCCCTGA	0.647		NaN											0	0	0	1	0	8	33				
DOPEY2	9980	broad.mit.edu	37	21	37620841	37620841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37620841C>G	uc002yvg.2	+	21	5052	c.4973C>G	c.(4972-4974)TCT>TGT	p.S1658C	DOPEY2_uc011aeb.1_Missense_Mutation_p.S1607C|DOPEY2_uc002yvh.2_Missense_Mutation_p.S509C	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1658					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AAGGGATCCTCTTCCGTTTAC	0.438		NaN											0	0	0	1	0	12	54				
MORC3	23515	broad.mit.edu	37	21	37717293	37717293	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37717293C>T	uc002yvi.2	+	8	1045	c.969C>T	c.(967-969)CTC>CTT	p.L323L		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	323					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GAAATAGACTCATCAAAGCTT	0.279		NaN											0	0	0	1	0	9	26				
DSCAM	1826	broad.mit.edu	37	21	41561016	41561016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:41561016G>C	uc002yyq.1	-	12	2958	c.2506C>G	c.(2506-2508)CTT>GTT	p.L836V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	836	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGACACAAGATAACGGGCC	0.473		NaN											0	0	0	1	0	39	113				
TMPRSS2	7113	broad.mit.edu	37	21	42845282	42845282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:42845282C>T	uc002yzj.2	-	9	1003	c.869G>A	c.(868-870)TGG>TAG	p.W290*	TMPRSS2_uc010gor.2_Nonsense_Mutation_p.W327*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.W290*	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	290	Peptidase S1.|Extracellular (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGTCACGATCCACTCGGGGGT	0.672		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								0	0	0	1	0	10	24				
PDE9A	5152	broad.mit.edu	37	21	44192610	44192610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:44192610G>C	uc002zbm.2	+	19	1811	c.1748G>C	c.(1747-1749)AGA>ACA	p.R583T	PDE9A_uc002zbn.2_Missense_Mutation_p.R456T|PDE9A_uc002zbo.2_Missense_Mutation_p.R530T|PDE9A_uc002zbp.2_Missense_Mutation_p.R376T|PDE9A_uc002zbq.2_Missense_Mutation_p.R481T|PDE9A_uc002zbs.2_Missense_Mutation_p.R376T|PDE9A_uc002zbr.2_Missense_Mutation_p.R376T|PDE9A_uc002zbt.2_Missense_Mutation_p.R455T|PDE9A_uc002zbu.2_Missense_Mutation_p.R449T|PDE9A_uc002zbv.2_Missense_Mutation_p.R423T|PDE9A_uc002zbw.2_Missense_Mutation_p.R366T|PDE9A_uc002zbx.2_Missense_Mutation_p.R523T|PDE9A_uc002zby.2_Missense_Mutation_p.R366T|PDE9A_uc002zbz.2_Missense_Mutation_p.R475T|PDE9A_uc002zca.2_Missense_Mutation_p.R542T|PDE9A_uc002zcb.2_Missense_Mutation_p.R557T|PDE9A_uc002zcc.2_Missense_Mutation_p.R482T|PDE9A_uc002zcd.2_Missense_Mutation_p.R497T|PDE9A_uc002zce.2_Missense_Mutation_p.R516T|PDE9A_uc002zcf.2_Missense_Mutation_p.R376T|PDE9A_uc002zcg.2_Missense_Mutation_p.R376T|PDE9A_uc002zch.2_Missense_Mutation_p.R366T	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	583					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						GAGAGAAGCAGAGATGTGAAA	0.498		NaN											0	0	0	1	0	6	15				
PWP2	5822	broad.mit.edu	37	21	45548494	45548494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:45548494G>A	uc002zeb.2	+	20	2662	c.2572G>A	c.(2572-2574)GAC>AAC	p.D858N		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	858						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCACCTGGACGACCTGTCGAA	0.632		NaN											0	0	0	1	0	8	36				
KRTAP10-9	386676	broad.mit.edu	37	21	46047228	46047228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46047228G>A	uc002zfp.3	+	1	189	c.140G>A	c.(139-141)TGC>TAC	p.C47Y	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	47	25 X 5 AA repeats of C-C-X(3).					keratin filament					0						ACCCTGGTCTGCACCCCAGTG	0.701		NaN											0	0	0	1	0	36	146				
ADARB1	104	broad.mit.edu	37	21	46596309	46596309	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46596309G>A	uc002zgy.2	+	4	1128	c.693G>A	c.(691-693)CCG>CCA	p.P231P	ADARB1_uc002zgr.2_Silent_p.P231P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P231P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P231P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P280P	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	231	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TCCCACCCCCGAGTGGGAAGA	0.597		NaN											0	0	0	1	0	21	84				
PCNT	5116	broad.mit.edu	37	21	47851626	47851626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:47851626G>C	uc002zji.3	+	38	8355	c.8248G>C	c.(8248-8250)GAG>CAG	p.E2750Q	PCNT_uc002zjj.2_Missense_Mutation_p.E2632Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2750	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTTGCGGCTGAGAAGAGCCG	0.647		NaN											0	0	0	1	0	7	36				
SLC7A4	6545	broad.mit.edu	37	22	21384215	21384215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:21384215C>T	uc002zud.2	-	3	1476	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	SLC7A4_uc002zue.2_Missense_Mutation_p.D470N	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	470					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTACCCATCCAAGAAGCCC	0.612		NaN											0	0	0	1	0	16	48				
MYO18B	84700	broad.mit.edu	37	22	26176157	26176157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:26176157C>G	uc003abz.1	+	9	2453	c.2203C>G	c.(2203-2205)CAG>GAG	p.Q735E	MYO18B_uc003aca.1_Missense_Mutation_p.Q616E|MYO18B_uc010guy.1_Missense_Mutation_p.Q616E|MYO18B_uc010guz.1_Missense_Mutation_p.Q616E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.Q248E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	735	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACAGCTGCTCAGCTCCAGGT	0.657		NaN											0	0	0	1	0	6	22				
GAS2L1	10634	broad.mit.edu	37	22	29707904	29707904	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:29707904C>T	uc003afa.1	+	7	1663	c.1464C>T	c.(1462-1464)GTC>GTT	p.V488V	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.V488V|GAS2L1_uc003afd.1_Missense_Mutation_p.S488F|GAS2L1_uc003afe.1_Missense_Mutation_p.S488F	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	488					cell cycle arrest	cytoplasm|cytoskeleton					0						TTTCCCGGGTCTCCAGCCCCA	0.716		NaN											0	0	0	1	0	19	50				
MTP18	51537	broad.mit.edu	37	22	30822740	30822740	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:30822740C>T	uc003ahw.1	+	2	251	c.103C>T	c.(103-105)CTT>TTT	p.L35F	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.L197F|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.L35F	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	35	Helical; (Potential).				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						TTTCCGCTCTCTTGTGCCAGC	0.542		NaN									OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	18	58				
OSBP2	23762	broad.mit.edu	37	22	31302219	31302219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:31302219G>C	uc003aiy.1	+	14	2748	c.2644G>C	c.(2644-2646)GAG>CAG	p.E882Q	OSBP2_uc011ala.1_Missense_Mutation_p.E716Q|OSBP2_uc010gwc.1_Missense_Mutation_p.E709Q|OSBP2_uc011alb.1_Nonstop_Mutation_p.*875S|OSBP2_uc003aiz.1_Missense_Mutation_p.E881Q|OSBP2_uc003aja.1_Missense_Mutation_p.E515Q|OSBP2_uc011alc.1_Missense_Mutation_p.E625Q|OSBP2_uc003ajb.2_Missense_Mutation_p.E427Q|OSBP2_uc011ald.1_Missense_Mutation_p.E426Q|OSBP2_uc010gwd.1_Nonstop_Mutation_p.*365S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	882					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						ACTGTGGTTTGAGAAGAGGCT	0.627		NaN											0	0	0	1	0	34	81				
MYH9	4627	broad.mit.edu	37	22	36718556	36718557	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:36718556_36718557TC>CT	uc003apg.2	-	6	853_854	c.622_623GA>AG	c.(622-624)GAG>AGG	p.E208R	MYH9_uc003aph.1_Missense_Mutation_p.E72R	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	208	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CAGCTGCCGCTCCAGCTCGCCC	0.683		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	1	0	37	59				
EP300	2033	broad.mit.edu	37	22	41513766	41513766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41513766C>T	uc003azl.3	+	2	1065	c.670C>T	c.(670-672)CAG>TAG	p.Q224*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	224					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGAGCCTCTTCAGCAGGGCTC	0.532		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	1	0	16	34		Valid		
EP300	2033	broad.mit.edu	37	22	41573148	41573148	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41573148G>T	uc003azl.3	+	31	5828	c.5433G>T	c.(5431-5433)CAG>CAT	p.Q1811H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1811	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ACATCAAGCAGAAGCTCCGGC	0.597		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.55811e-20	1	1.65592e-20	31	90		Valid		
NAGA	4668	broad.mit.edu	37	22	42463781	42463781	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42463781G>A	uc003bbx.2	-	4	449	c.312C>T	c.(310-312)TTC>TTT	p.F104F	NAGA_uc003bby.2_Silent_p.F104F|NAGA_uc003bbw.3_Silent_p.F104F	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	104					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						AGTCAGCCAGGAAAGGAATGC	0.582		NaN											0	0	0	1	0	30	95				
TCF20	6942	broad.mit.edu	37	22	42606970	42606970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42606970C>G	uc003bcj.1	-	1	4476	c.4342G>C	c.(4342-4344)GAG>CAG	p.E1448Q	TCF20_uc003bck.1_Missense_Mutation_p.E1448Q|TCF20_uc003bnt.2_Missense_Mutation_p.E1448Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						GCATGTGTCTCTGTCTTCACT	0.527		NaN											0	0	0	1	0	52	158				
ARFGAP3	26286	broad.mit.edu	37	22	43204836	43204836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:43204836C>A	uc003bdd.2	-	13	1477	c.1257G>T	c.(1255-1257)AAG>AAT	p.K419N	ARFGAP3_uc010gzf.2_Missense_Mutation_p.K375N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	419					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TGCCAAACTTCTTCTGGGCCT	0.423		NaN											1	0	4.16155e-14	1	4.3788e-14	41	109				
PNPLA3	80339	broad.mit.edu	37	22	44342253	44342253	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44342253G>A	uc003bei.1	+	9	1610	c.1437G>A	c.(1435-1437)AAG>AAA	p.K479K	PNPLA3_uc010gzm.1_Intron	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	479	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				CACTAGAGAAGAGTCTGTGAG	0.512		NaN									OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	29	96				
PARVB	29780	broad.mit.edu	37	22	44395417	44395417	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44395417G>T	uc003bem.2	+	2	123	c.75G>T	c.(73-75)AGG>AGT	p.R25S		NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	parvin, beta isoform a	Error:Variant_position_missing_in_Q9HBI1_after_alignment					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.005		NaN											1	0	8.73648e-17	1	9.25007e-17	35	105				
TBC1D22A	25771	broad.mit.edu	37	22	47307990	47307990	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:47307990C>T	uc003bib.2	+	8	1056	c.921C>T	c.(919-921)TTC>TTT	p.F307F	TBC1D22A_uc010haf.2_Silent_p.F277F|TBC1D22A_uc003bic.2_Silent_p.F248F|TBC1D22A_uc003bie.2_Silent_p.F229F|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.F260F	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	307	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGATCTTGTTCATATGGGCGA	0.373		NaN											0	0	0	1	0	35	85				
ZBED4	9889	broad.mit.edu	37	22	50277808	50277808	+	Silent	SNP	G	G	A	rs141158718		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50277808G>A	uc003bix.2	+	2	968	c.498G>A	c.(496-498)CCG>CCA	p.P166P		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	166	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCACACCCGACCGTGCTCA	0.557		NaN											0	0	0	1	0	21	72				
FAM116B	414918	broad.mit.edu	37	22	50753332	50753332	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50753332C>G	uc011aru.1	-	11	849	c.777G>C	c.(775-777)CTG>CTC	p.L259L	FAM116B_uc011arv.1_Silent_p.L259L	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	259											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCATATGAGTCAGCACAGGCC	0.672		NaN											0	0	0	1	0	12	36				
ARSA	410	broad.mit.edu	37	22	51063878	51063878	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:51063878C>T	uc003bnb.3	-	9	1472	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	ARSA_uc003bna.3_Missense_Mutation_p.D323N|ARSA_uc003bnc.3_Missense_Mutation_p.D407N|ARSA_uc003bnd.3_Missense_Mutation_p.D407N|ARSA_uc003bmz.3_Missense_Mutation_p.D407N	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	407			Missing (in MLD; late-infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCAGTGGTATCACTGTGGGCA	0.642		NaN											0	0	0	1	0	85	71				
CPNE9	151835	broad.mit.edu	37	3	9754751	9754751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9754751G>A	uc003bsd.2	+	9	809	c.638G>A	c.(637-639)GGA>GAA	p.G213E		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	213	C2 2.									ovary(2)	2	Medulloblastoma(99;0.227)					CTGTGCAATGGAGACTATGAC	0.527		NaN											0	0	0	1	0	11	33				
TTLL3	26140	broad.mit.edu	37	3	9843424	9843424	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9843424G>A	uc003btd.3	+	3	311	c.32G>A	c.(31-33)CGA>CAA	p.R11Q	ARPC4_uc003bsz.1_Missense_Mutation_p.R105Q|ARPC4_uc003bta.1_Missense_Mutation_p.R15Q|ARPC4_uc003btb.1_Missense_Mutation_p.R15Q|ARPC4_uc003btc.1_Intron			Q9Y4R7	TTLL3_HUMAN	RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;	11					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TTTATCCTTCGAAGGAAGCCT	0.498		NaN											0	0	0	1	0	3	20				
PRRT3	285368	broad.mit.edu	37	3	9988025	9988025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9988025C>T	uc003bul.2	-	4	2962	c.2832G>A	c.(2830-2832)CCG>CCA	p.P944P	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	944	Cytoplasmic (Potential).					integral to membrane					0						GGGCTGGGGTCGGGGCAGGCA	0.662		NaN											0	0	0	1	0	20	49				
ATP2B2	491	broad.mit.edu	37	3	10382201	10382201	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:10382201G>A	uc003bvt.2	-	20	3544	c.3105C>T	c.(3103-3105)ATC>ATT	p.I1035I	ATP2B2_uc003bvv.2_Silent_p.I990I|ATP2B2_uc003bvw.2_Silent_p.I990I|ATP2B2_uc010hdo.2_Silent_p.I740I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1035	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TGCCCAGCACGATGGTGCAGA	0.627		NaN											0	0	0	1	0	41	116				
SLC6A1	6529	broad.mit.edu	37	3	11058933	11058933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:11058933G>T	uc010hdq.2	+	3	447	c.36G>T	c.(34-36)CAG>CAT	p.Q12H		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	12	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGACGGGCAGATCTCCACCG	0.642		NaN											1	0	5.35356e-11	1	5.5948e-11	23	68				
NUP210	23225	broad.mit.edu	37	3	13383323	13383323	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:13383323G>A	uc003bxv.1	-	23	3236	c.3153C>T	c.(3151-3153)ATC>ATT	p.I1051I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1051	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TGGTCTGGCCGATGGCCACAC	0.522		NaN											0	0	0	1	0	14	50				
ZNF385D	79750	broad.mit.edu	37	3	21462822	21462822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:21462822G>A	uc003cce.2	-	8	1480	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GGAGCAGTTCGAAGACTGAAG	0.473		NaN											0	0	0	1	0	16	30				
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25611305G>A	uc011awl.1	+	4	592	c.526G>A	c.(526-528)GAG>AAG	p.E176K	RARB_uc003cdi.1_Missense_Mutation_p.E57K|RARB_uc003cdh.2_Missense_Mutation_p.E169K	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	176	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488		NaN											0	0	0	1	0	29	89				
NGLY1	55768	broad.mit.edu	37	3	25773930	25773930	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25773930C>T	uc003cdl.2	-	9	1413	c.1305G>A	c.(1303-1305)CAG>CAA	p.Q435Q	NGLY1_uc010hfg.2_Silent_p.Q417Q|NGLY1_uc003cdm.2_Silent_p.Q435Q|NGLY1_uc011awo.1_Silent_p.Q393Q|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	435					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						CAATTATCCTCTGGAGAAGTT	0.398		NaN											0	0	0	1	0	20	48				
GADL1	339896	broad.mit.edu	37	3	30880497	30880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:30880497G>A	uc003cep.2	-	9	942	c.895C>T	c.(895-897)CAT>TAT	p.H299Y	GADL1_uc003ceq.1_Missense_Mutation_p.H299Y	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	299					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	ACATCTACATGAAGCCAGAGG	0.418		NaN											0	0	0	1	0	4	65				
CCR4	1233	broad.mit.edu	37	3	32995455	32995455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:32995455G>A	uc003cfg.1	+	2	709	c.541G>A	c.(541-543)GAG>AAG	p.E181K		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	181	Extracellular (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TTGTTATACTGAGCGCAACCA	0.507		NaN											0	0	0	1	0	28	92				
STAC	6769	broad.mit.edu	37	3	36587730	36587730	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36587730C>T	uc003cgh.1	+	11	1197	c.1158C>T	c.(1156-1158)CTC>CTT	p.L386L	STAC_uc011aya.1_Silent_p.L325L	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	386					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCAGAGTCCTCAGTGGAAAAA	0.438		NaN											0	0	0	1	0	29	88				
TRANK1	9881	broad.mit.edu	37	3	36897001	36897001	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897001C>A	uc003cgj.2	-	3	2732	c.2430G>T	c.(2428-2430)CAG>CAT	p.Q810H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1360					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AATAACCTTTCTGGGACCTGA	0.473		NaN											1	0	1.39193e-11	1	1.45645e-11	51	131				
TRANK1	9881	broad.mit.edu	37	3	36897398	36897398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897398C>G	uc003cgj.2	-	3	2335	c.2033G>C	c.(2032-2034)AGA>ACA	p.R678T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1228					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TATGATGGTTCTTTTCAAGCT	0.468		NaN											0	0	0	1	0	52	101				
LRRFIP2	9209	broad.mit.edu	37	3	37107346	37107346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:37107346G>C	uc003cgp.2	-	24	2077	c.1654C>G	c.(1654-1656)CAG>GAG	p.Q552E	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q334E|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q231E	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	552					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						GCAGCTTCCTGAGACACAACA	0.483		NaN											0	0	0	1	0	27	84				
DLEC1	9940	broad.mit.edu	37	3	38158112	38158112	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38158112C>T	uc003cho.1	+	28	4046	c.4025C>T	c.(4024-4026)TCC>TTC	p.S1342F	DLEC1_uc003chp.1_Missense_Mutation_p.S1342F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1345F|DLEC1_uc003chr.1_Missense_Mutation_p.S413F|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1342					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGGCCCCTCCAGTTCATCG	0.627		NaN											0	0	0	1	0	35	99				
ACAA1	30	broad.mit.edu	37	3	38168124	38168124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38168124C>T	uc003cht.2	-	8	901	c.694G>A	c.(694-696)GAT>AAT	p.D232N	ACAA1_uc003chu.2_Missense_Mutation_p.D199N|ACAA1_uc010hgy.2_Missense_Mutation_p.D191N|ACAA1_uc010hgz.2_Missense_Mutation_p.D232N|ACAA1_uc003chv.2_Missense_Mutation_p.D80N	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	232					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCCTTGTCATCATGGACCGTG	0.592		NaN											0	0	0	1	0	30	93				
XYLB	9942	broad.mit.edu	37	3	38404477	38404477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38404477C>T	uc003cic.2	+	4	369	c.260C>T	c.(259-261)TCT>TTT	p.S87F	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	87					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGACTTCTCTCAAGTCCTA	0.522		NaN											0	0	0	1	0	20	90				
ZNF619	285267	broad.mit.edu	37	3	40529228	40529228	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:40529228C>T	uc011azb.1	+	6	1625	c.1347C>T	c.(1345-1347)TTC>TTT	p.F449F	ZNF619_uc010hhz.2_Silent_p.F400F|ZNF619_uc003ckj.2_Silent_p.F393F|ZNF619_uc011azc.1_Silent_p.F409F|ZNF619_uc011azd.1_Silent_p.F365F|ZNF619_uc011aza.1_Silent_p.F351F	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	449					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAAAACTTTCAGCTGTAGCT	0.468		NaN											0	0	0	1	0	21	79				
C3orf23	285343	broad.mit.edu	37	3	44442825	44442825	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:44442825G>C	uc010him.2	+	10	1494	c.1249G>C	c.(1249-1251)GAG>CAG	p.E417Q	C3orf23_uc003cnd.3_Missense_Mutation_p.E417Q|C3orf23_uc003cne.3_Missense_Mutation_p.E273Q	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	417	Potential.					mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAGAAAGGAAGAGTAAGTACT	0.398		NaN											0	0	0	1	0	19	55				
CDCP1	64866	broad.mit.edu	37	3	45153662	45153662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:45153662C>G	uc003com.2	-	3	703	c.568G>C	c.(568-570)GAA>CAA	p.E190Q	CDCP1_uc003con.2_Missense_Mutation_p.E190Q	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	190	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTCACTCCTTCTTGCATCTTG	0.537		NaN											0	0	0	1	0	41	104				
CCR2	729230	broad.mit.edu	37	3	46399402	46399402	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46399402C>T	uc003cpn.3	+	2	869	c.384C>T	c.(382-384)ATC>ATT	p.I128I	CCR2_uc003cpm.3_Silent_p.I128I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	128	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTGGCGGAATCTTCTTCATCA	0.468		NaN											0	0	0	1	0	76	274				
LTF	4057	broad.mit.edu	37	3	46492002	46492002	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46492002G>A	uc003cpq.2	-	7	903	c.865C>T	c.(865-867)CTT>TTT	p.L289F	LTF_uc003fzr.2_Missense_Mutation_p.L245F|LTF_uc010hjh.2_Missense_Mutation_p.L289F|LTF_uc003cpr.2_Missense_Mutation_p.L276F	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	289	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGGCGGAGAAGATTCCAGATG	0.562		NaN											0	0	0	1	0	9	27				
PRSS50	29122	broad.mit.edu	37	3	46753882	46753882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46753882C>T	uc003cqe.1	-	6	1071	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	PRSS50_uc003cqf.1_Missense_Mutation_p.E252K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	338	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGTGGGGCCTCGCTCTTCTGG	0.637		NaN											0	0	0	1	0	15	48				
KLHL18	23276	broad.mit.edu	37	3	47384267	47384267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47384267G>C	uc003crd.2	+	9	1411	c.1285G>C	c.(1285-1287)GAG>CAG	p.E429Q	KLHL18_uc011bav.1_Missense_Mutation_p.E317Q	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	429	Kelch 3.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TACAGTCTTTGAGGGCAGGAT	0.512		NaN											0	0	0	1	0	22	53				
DHX30	22907	broad.mit.edu	37	3	47868907	47868907	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47868907C>T	uc003cru.2	+	5	621	c.195C>T	c.(193-195)CTC>CTT	p.L65L	DHX30_uc003crs.2_Silent_p.L26L|DHX30_uc003crt.2_Silent_p.L26L|DHX30_uc010hjr.1_Silent_p.L93L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	65	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGAGCCCTCGGCATCTCAC	0.418		NaN											0	0	0	1	0	23	59				
COL7A1	1294	broad.mit.edu	37	3	48603971	48603971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48603971C>G	uc003ctz.2	-	112	8331	c.8330G>C	c.(8329-8331)CGA>CCA	p.R2777P	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2777	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGAGGACCGGC	0.473		NaN											0	0	0	1	0	44	142				
COL7A1	1294	broad.mit.edu	37	3	48613150	48613150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48613150C>G	uc003ctz.2	-	72	5889	c.5888G>C	c.(5887-5889)TGG>TCG	p.W1963S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1963	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTCATCCCAGGTCTCCAC	0.667		NaN											0	0	0	1	0	20	89				
PRKAR2A	5576	broad.mit.edu	37	3	48884791	48884791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884791G>A	uc010hki.1	-	1	480	c.239C>T	c.(238-240)TCG>TTG	p.S80L	PRKAR2A_uc003cux.1_Missense_Mutation_p.S80L|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S80L|uc003cuz.1_5'Flank	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	80	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTCCTCCTCCGACTCGCTGTC	0.716		NaN											0	0	0	1	0	14	27				
PRKAR2A	5576	broad.mit.edu	37	3	48884887	48884887	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884887G>C	uc010hki.1	-	1	384	c.143C>G	c.(142-144)TCA>TGA	p.S48*	PRKAR2A_uc003cux.1_Nonsense_Mutation_p.S48*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.S48*|uc003cuz.1_5'Flank	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GGGCAGGACTGAGGCTGGGGC	0.726		NaN											0	0	0	1	0	6	11				
P4HTM	54681	broad.mit.edu	37	3	49027929	49027929	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49027929C>G	uc003cvg.2	+	1	589	c.240C>G	c.(238-240)CTC>CTG	p.L80L	P4HTM_uc003cvh.2_Silent_p.L80L	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	80	Helical; Signal-anchor for type II membrane protein; (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CGCTGCTGCTCTTCGTGCACT	0.682		NaN											0	0	0	1	0	14	33				
WDR6	11180	broad.mit.edu	37	3	49050213	49050213	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49050213C>T	uc003cvj.2	+	2	1474	c.1336C>T	c.(1336-1338)CGT>TGT	p.R446C	WDR6_uc011bbx.1_Missense_Mutation_p.R317C|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R390C|WDR6_uc011bbz.1_Missense_Mutation_p.R365C	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	416					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGGAAGGTCGTGTCAAGGT	0.572		NaN											0	0	0	1	0	10	49				
LAMB2	3913	broad.mit.edu	37	3	49160696	49160696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49160696G>A	uc003cwe.2	-	26	4392	c.4093C>T	c.(4093-4095)CGG>TGG	p.R1365W	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1365	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCGATGCCGAGCACTTGCC	0.587		NaN											0	0	0	1	0	41	124				
KLHDC8B	200942	broad.mit.edu	37	3	49212219	49212219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49212219G>C	uc003cwh.2	+	4	771	c.586G>C	c.(586-588)GAT>CAT	p.D196H	KLHDC8B_uc003cwi.1_Missense_Mutation_p.D69H	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	196	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGCCTTTGATCTGGAGGC	0.632		NaN											0	0	0	1	0	22	58				
DAG1	1605	broad.mit.edu	37	3	49569108	49569108	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49569108T>C	uc003cxc.3	+	3	1582	c.1164T>C	c.(1162-1164)ACT>ACC	p.T388T		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	388	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCAGCCTACTCGGGTGTCAG	0.587		NaN											0	0	0	1	0	59	152				
IP6K1	9807	broad.mit.edu	37	3	49770264	49770264	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49770264C>G	uc003cxm.1	-	4	891	c.576G>C	c.(574-576)CTG>CTC	p.L192L	IP6K1_uc003cxn.1_Silent_p.L27L|IP6K1_uc011bcv.1_Silent_p.L27L|IP6K1_uc003cxo.2_Silent_p.L192L	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	192					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GCATGCGGCTCAGCTGCTGCT	0.567		NaN											0	0	0	1	0	25	53				
PBRM1	55193	broad.mit.edu	37	3	52582190	52582190	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52582190C>T	uc003des.2	-	30	4971	c.4959G>A	c.(4957-4959)CTG>CTA	p.L1653L	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.L1546L|PBRM1_uc003der.2_Silent_p.L1566L|PBRM1_uc003det.2_Silent_p.L1561L|PBRM1_uc003deu.2_Silent_p.L1616L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L1598L|PBRM1_uc010hmk.1_Silent_p.L1573L|PBRM1_uc003dey.2_Silent_p.L1546L	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1653					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTGCTTTTCAGCCAGTGAG	0.507		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	46	121				
PBRM1	55193	broad.mit.edu	37	3	52620683	52620683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52620683C>T	uc003des.2	-	20	3157	c.3145G>A	c.(3145-3147)GAA>AAA	p.E1049K	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1049K|PBRM1_uc003der.2_Missense_Mutation_p.E1017K|PBRM1_uc003det.2_Missense_Mutation_p.E1064K|PBRM1_uc003deu.2_Missense_Mutation_p.E1064K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1049K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1024K|PBRM1_uc003dey.2_Missense_Mutation_p.E1024K|PBRM1_uc003dez.1_Missense_Mutation_p.E1048K|PBRM1_uc003dfb.1_Missense_Mutation_p.E961K|PBRM1_uc003dfa.1_Missense_Mutation_p.E395K	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1049	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAAGTTTTCTGGGCATAAC	0.358		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	14	66				
PBRM1	55193	broad.mit.edu	37	3	52621527	52621527	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52621527C>G	uc003des.2	-	19	2978	c.2966_splice	c.e19-1	p.G989_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTTTCACCTCAAAAATGG	0.313		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	13	57				
ACTR8	93973	broad.mit.edu	37	3	53908249	53908249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:53908249G>C	uc003dhd.2	-	8	1113	c.1054C>G	c.(1054-1056)CAT>GAT	p.H352D	ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241D	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGATCTAAATGACAAAAAGTT	0.328		NaN											0	0	0	1	0	16	39				
PDE12	201626	broad.mit.edu	37	3	57545645	57545645	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:57545645G>A	uc003diw.3	+	3	1870	c.1744G>A	c.(1744-1746)GAA>AAA	p.E582K	PDE12_uc003div.2_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	582							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCTAGTCATGAAGAAGTTAC	0.373		NaN											0	0	0	1	0	37	110				
CADPS	8618	broad.mit.edu	37	3	62501761	62501761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:62501761G>A	uc003dll.2	-	16	2914	c.2554C>T	c.(2554-2556)CGG>TGG	p.R852W	CADPS_uc003dlk.1_Missense_Mutation_p.R356W|CADPS_uc003dlm.2_Missense_Mutation_p.R852W|CADPS_uc003dln.2_Missense_Mutation_p.R835W	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	852	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGAGAGCCGAGAATAGTTG	0.433		NaN											0	0	0	1	0	22	61				
MAGI1	9223	broad.mit.edu	37	3	65464309	65464309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:65464309C>T	uc003dmn.2	-	4	1241	c.715G>A	c.(715-717)GAG>AAG	p.E239K	MAGI1_uc003dmm.2_Missense_Mutation_p.E239K|MAGI1_uc003dmo.2_Missense_Mutation_p.E239K|MAGI1_uc003dmp.2_Missense_Mutation_p.E239K|MAGI1_uc010hny.2_Missense_Mutation_p.E123K|MAGI1_uc003dmr.2_Missense_Mutation_p.E239K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	239	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTCCTCCTCATTCTCCGCG	0.517		NaN											0	0	0	1	0	26	109				
LRIG1	26018	broad.mit.edu	37	3	66433416	66433416	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:66433416G>C	uc003dmx.2	-	15	2495	c.2481C>G	c.(2479-2481)GTC>GTG	p.V827V	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.V447V|LRIG1_uc003dmw.2_Silent_p.V493V|LRIG1_uc010hnz.2_Silent_p.V543V|LRIG1_uc010hoa.2_Silent_p.V804V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	827	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGTGTTGGTGACACTGTACT	0.557		NaN											0	0	0	1	0	13	51				
KBTBD8	84541	broad.mit.edu	37	3	67049613	67049613	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:67049613C>T	uc003dmy.2	+	2	278	c.225C>T	c.(223-225)TTC>TTT	p.F75F	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	75	BTB.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GCCCTTACTTCAGGTATGATG	0.428		NaN											0	0	0	1	0	28	98				
MITF	4286	broad.mit.edu	37	3	70005608	70005608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:70005608G>C	uc003dnz.2	+	8	1056	c.940G>C	c.(940-942)GAA>CAA	p.E314Q	MITF_uc011bgb.1_Missense_Mutation_p.E262Q|MITF_uc003doa.2_Missense_Mutation_p.E313Q|MITF_uc003dob.2_Missense_Mutation_p.E298Q|MITF_uc003dod.2_Missense_Mutation_p.E289Q|MITF_uc003doe.2_Missense_Mutation_p.E207Q|MITF_uc003dof.2_Missense_Mutation_p.E213Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	320	Basic motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGAAGTTGAACGAAGAAG	0.383		NaN	A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						0	0	0	1	0	9	30				
ROBO1	6091	broad.mit.edu	37	3	78649360	78649360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:78649360C>G	uc003dqe.2	-	30	5052	c.4844G>C	c.(4843-4845)AGA>ACA	p.R1615T	ROBO1_uc003dqb.2_Missense_Mutation_p.R1576T|ROBO1_uc003dqc.2_Missense_Mutation_p.R1515T|ROBO1_uc003dqd.2_Missense_Mutation_p.R1570T|ROBO1_uc010hoh.2_Missense_Mutation_p.R807T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1615	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTTTGTCTGCTTCCTGA	0.383		NaN											0	0	0	1	0	14	39				
OR5K3	403277	broad.mit.edu	37	3	98109713	98109713	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:98109713G>C	uc011bgw.1	+	1	204	c.204G>C	c.(202-204)CTG>CTC	p.L68L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACCTAGTTCTGATGGATTCCT	0.398		NaN											0	0	0	1	0	52	209				
BBX	56987	broad.mit.edu	37	3	107524303	107524303	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:107524303G>A	uc010hpr.2	+	18	3152	c.2825G>A	c.(2824-2826)TGA>TAA	p.*942*	BBX_uc003dwk.3_Silent_p.*912*|BBX_uc003dwl.3_Missense_Mutation_p.E606K|BBX_uc003dwm.3_Silent_p.*912*|BBX_uc003dwo.3_Missense_Mutation_p.E259K	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTGACCAGTGAAGCGCCCTT	0.468		NaN											0	0	0	1	0	21	88				
DZIP3	9666	broad.mit.edu	37	3	108380728	108380728	+	Missense_Mutation	SNP	C	C	T	rs139764708		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108380728C>T	uc003dxd.2	+	20	2626	c.2204C>T	c.(2203-2205)TCA>TTA	p.S735L	DZIP3_uc003dxf.1_Missense_Mutation_p.S735L|DZIP3_uc011bhm.1_Missense_Mutation_p.S186L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	735					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAATAGGGCTCAGCTGGCAAA	0.358		NaN											0	0	0	1	0	10	21				
DZIP3	9666	broad.mit.edu	37	3	108403160	108403160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108403160C>T	uc003dxd.2	+	27	3403	c.2981C>T	c.(2980-2982)TCT>TTT	p.S994F	DZIP3_uc003dxf.1_Missense_Mutation_p.S994F|DZIP3_uc011bhm.1_Missense_Mutation_p.S445F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	994					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGTCGTCTCTGCAACTGGC	0.433		NaN											0	0	0	1	0	48	222				
TRAT1	50852	broad.mit.edu	37	3	108572556	108572556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108572556C>G	uc003dxi.1	+	6	537	c.393C>G	c.(391-393)TTC>TTG	p.F131L	TRAT1_uc010hpx.1_Missense_Mutation_p.F94L	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	131	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						ATACTCATTTCTCAGACAAGG	0.463		NaN											0	0	0	1	0	13	59				
MORC1	27136	broad.mit.edu	37	3	108724086	108724086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108724086G>C	uc003dxl.2	-	19	1931	c.1844C>G	c.(1843-1845)TCA>TGA	p.S615*	MORC1_uc011bhn.1_Nonsense_Mutation_p.S594*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	615					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						ACGGCTCGCTGAAAGCTCAAA	0.358		NaN											0	0	0	1	0	6	35				
SIDT1	54847	broad.mit.edu	37	3	113300209	113300209	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113300209G>A	uc003eak.2	+	6	1316	c.665G>A	c.(664-666)TGC>TAC	p.C222Y	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.C222Y|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	222	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						ATGCTGCAGTGCCCGGTGTAT	0.463		NaN											0	0	0	1	0	15	39				
GRAMD1C	54762	broad.mit.edu	37	3	113627832	113627832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113627832G>A	uc003eaq.3	+	9	893	c.817G>A	c.(817-819)GAG>AAG	p.E273K	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.E106K|GRAMD1C_uc003eas.2_Missense_Mutation_p.E68K	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	273						integral to membrane				ovary(2)|skin(1)	3						GTCCCAAAATGAGAAACAGAC	0.338		NaN											0	0	0	1	0	12	29				
ZNF80	7634	broad.mit.edu	37	3	113955831	113955831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113955831C>T	uc010hqo.2	-	1	595	c.91G>A	c.(91-93)GAA>AAA	p.E31K	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	31						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GAGTCACATTCATGGAGATTG	0.507		NaN											0	0	0	1	0	18	90				
C3orf30	152405	broad.mit.edu	37	3	118865552	118865552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:118865552G>C	uc003ecb.1	+	1	556	c.516G>C	c.(514-516)CAG>CAC	p.Q172H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q172H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	172										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		CATCTGACCAGAGAGGTTCCA	0.527		NaN											0	0	0	1	0	24	80				
C3orf15	89876	broad.mit.edu	37	3	119469912	119469912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:119469912G>A	uc003ede.3	+	17	2349	c.2272G>A	c.(2272-2274)GAG>AAG	p.E758K	C3orf15_uc010hqz.2_Missense_Mutation_p.E696K|C3orf15_uc011bjd.1_Missense_Mutation_p.E632K|C3orf15_uc011bje.1_Missense_Mutation_p.E738K|C3orf15_uc003edg.3_RNA|C3orf15_uc003edh.3_RNA	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	594						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		CATGTTACTTGAGAAAGAAAC	0.418		NaN											0	0	0	1	0	16	62				
POLQ	10721	broad.mit.edu	37	3	121207035	121207035	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121207035C>T	uc003eee.3	-	16	4872	c.4743G>A	c.(4741-4743)AAG>AAA	p.K1581K	POLQ_uc003eed.2_Silent_p.K753K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1581					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CAGTATGATTCTTCTCTTGGA	0.383		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	29	83				
IQCB1	9657	broad.mit.edu	37	3	121547358	121547358	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547358C>T	uc010hre.1	-	4	437	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	IQCB1_uc003eek.2_Silent_p.Q74Q|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	74					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TCCAACCACCCTGGATTCGAG	0.363		NaN											0	0	0	1	0	16	50				
IQCB1	9657	broad.mit.edu	37	3	121547744	121547744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547744C>G	uc010hre.1	-	3	279	c.64G>C	c.(64-66)GAG>CAG	p.E22Q	IQCB1_uc003eek.2_Missense_Mutation_p.E22Q|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	22					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		ACATTCTGCTCAGGGCTTTTT	0.348		NaN											0	0	0	1	0	8	38				
IQCB1	9657	broad.mit.edu	37	3	121547781	121547781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547781C>A	uc010hre.1	-	3	242	c.27G>T	c.(25-27)AGG>AGT	p.R9S	IQCB1_uc003eek.2_Missense_Mutation_p.R9S|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	9					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TAGATAAGATCCTTGGGTCTG	0.348		NaN											1	0	0.00116845	1	0.001181	6	40				
KALRN	8997	broad.mit.edu	37	3	123987853	123987853	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:123987853G>A	uc003ehg.2	+	5	841	c.714G>A	c.(712-714)CTG>CTA	p.L238L	KALRN_uc010hrv.1_Silent_p.L238L|KALRN_uc003ehf.1_Silent_p.L238L|KALRN_uc011bjy.1_Silent_p.L238L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	238	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AAAAGGTGCTGAAGGCCCCTG	0.627		NaN											0	0	0	1	0	11	32				
PLXNA1	5361	broad.mit.edu	37	3	126722265	126722265	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:126722265C>T	uc003ejg.2	+	3	1405	c.1401C>T	c.(1399-1401)CTC>CTT	p.L467L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	490	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TGCGAGACCTCGTCCTCAGCC	0.672		NaN											0	0	0	1	0	25	63				
PIK3R4	30849	broad.mit.edu	37	3	130464012	130464012	+	Missense_Mutation	SNP	C	C	G	rs143147652		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:130464012C>G	uc003enj.2	-	2	632	c.51G>C	c.(49-51)GAG>GAC	p.E17D		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	17					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAAAATAACTCTCTACAGAAA	0.438		NaN											0	0	0	1	0	15	40				
ACPP	55	broad.mit.edu	37	3	132051183	132051183	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:132051183G>T	uc010htp.2	+	4	541	c.451G>T	c.(451-453)GAT>TAT	p.D151Y	ACPP_uc003eon.3_Missense_Mutation_p.D151Y|ACPP_uc003eop.3_Missense_Mutation_p.D151Y	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	151						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						TCTTTCTGAAGATCAGGTCAG	0.517		NaN											1	0	6.40141e-05	1	6.50516e-05	12	44				
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:134080563C>T	uc003eqf.2	-	6	1657	c.1540G>A	c.(1540-1542)GAG>AAG	p.E514K	AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456	Potential.									large_intestine(1)	1						TCCAGCAGCTCGGCACGCCGC	0.652		NaN											0	0	0	1	0	13	33				
PPP2R3A	5523	broad.mit.edu	37	3	135720716	135720716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:135720716G>C	uc003eqv.1	+	2	941	c.376G>C	c.(376-378)GAA>CAA	p.E126Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	126					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GAAAATAAAAGAATTTTCCTT	0.378		NaN											0	0	0	1	0	5	27				
ZBTB38	253461	broad.mit.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141161785G>C	uc003etw.2	+	8	1537	c.555G>C	c.(553-555)TTG>TTC	p.L185F	ZBTB38_uc010hun.2_Missense_Mutation_p.L182F|ZBTB38_uc010huo.2_Missense_Mutation_p.L185F|ZBTB38_uc003ety.2_Missense_Mutation_p.L185F|ZBTB38_uc010hup.2_Missense_Mutation_p.L186F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	185					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CGCTGGACTTGAGGGCAAGTT	0.498		NaN											0	0	0	1	0	24	122				
RASA2	5922	broad.mit.edu	37	3	141272699	141272699	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141272699C>T	uc003etz.1	+	6	528	c.528C>T	c.(526-528)CAC>CAT	p.H176H	RASA2_uc010huq.1_Silent_p.H176H|RASA2_uc003eua.1_Silent_p.H176H|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	176	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TCTACCTTAGCATCAAGGCAT	0.333		NaN											0	0	0	1	0	19	62				
RASA2	5922	broad.mit.edu	37	3	141328358	141328358	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141328358G>A	uc003etz.1	+	22	2322	c.2322G>A	c.(2320-2322)AAG>AAA	p.K774K	RASA2_uc010huq.1_Silent_p.K778K|RASA2_uc003eua.1_Silent_p.K775K	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	774					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.K774R(1)		ovary(2)|lung(2)|breast(1)|skin(1)	6						AGCTGCAGAAGATGGAAGGTA	0.313		NaN											0	0	0	1	0	16	27				
PLSCR1	5359	broad.mit.edu	37	3	146234923	146234923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:146234923C>T	uc003evx.3	-	8	1158	c.770G>A	c.(769-771)GGC>GAC	p.G257D	PLSCR1_uc003evy.3_Missense_Mutation_p.G250D|PLSCR1_uc011bnn.1_Missense_Mutation_p.G176D|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	257	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GGAAATTTTGCCAACCACACA	0.318		NaN											0	0	0	1	0	4	68				
HPS3	84343	broad.mit.edu	37	3	148871318	148871318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:148871318G>C	uc003ewu.1	+	7	1423	c.1283G>C	c.(1282-1284)AGA>ACA	p.R428T	HPS3_uc003ewt.1_Missense_Mutation_p.R428T|HPS3_uc011bnq.1_Missense_Mutation_p.R263T	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	428						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTGCTTTAAGAATACAGCTT	0.378		NaN							Hermansky-Pudlak_syndrome				0	0	0	1	0	28	61				
TM4SF4	7104	broad.mit.edu	37	3	149205479	149205479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149205479C>T	uc003exd.1	+	3	569	c.338C>T	c.(337-339)TCA>TTA	p.S113L		NM_004617	NP_004608	P48230	T4S4_HUMAN	transmembrane 4 superfamily member 4	113	Helical; (Potential).					integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGCCATTTCAATCAACAAG	0.502		NaN											0	0	0	1	0	19	62				
RNF13	11342	broad.mit.edu	37	3	149678634	149678634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149678634G>A	uc003exn.3	+	11	1673	c.889G>A	c.(889-891)GAC>AAC	p.D297N	RNF13_uc003exp.3_Missense_Mutation_p.D297N|RNF13_uc010hvh.2_Missense_Mutation_p.D178N	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	297	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTGACACAGACAGTAGTCA	0.448		NaN											0	0	0	1	0	20	61				
TSC22D2	9819	broad.mit.edu	37	3	150127514	150127514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150127514C>G	uc003exv.2	+	1	727	c.377C>G	c.(376-378)ACT>AGT	p.T126S	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.T126S	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	126							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGCTGCCACTTCGGCCCCC	0.741		NaN											0	0	0	1	0	23	47				
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840608G>A	uc003eyp.2	+	3	281	c.243G>A	c.(241-243)CTG>CTA	p.L81L	MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378		NaN											0	0	0	1	0	4	28				
MED12L	116931	broad.mit.edu	37	3	150840663	150840663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840663G>C	uc003eyp.2	+	3	336	c.298G>C	c.(298-300)GAT>CAT	p.D100H	MED12L_uc011bnz.1_Missense_Mutation_p.D100H|MED12L_uc003eym.1_Missense_Mutation_p.D100H|MED12L_uc003eyn.2_Missense_Mutation_p.D100H|MED12L_uc003eyo.2_Missense_Mutation_p.D100H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATGCTAAAGATAATTATTG	0.388		NaN											0	0	0	1	0	4	19				
IGSF10	285313	broad.mit.edu	37	3	151165065	151165065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:151165065C>T	uc011bod.1	-	4	2704	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	902					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGAAATTCAGTTGCTCCA	0.413		NaN											0	0	0	1	0	74	251				
DHX36	170506	broad.mit.edu	37	3	154002700	154002700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154002700C>T	uc003ezy.3	-	18	2189	c.2108G>A	c.(2107-2109)GGA>GAA	p.G703E	DHX36_uc010hvq.2_Missense_Mutation_p.G689E|DHX36_uc003ezz.3_Missense_Mutation_p.G703E	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	703						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATCATTTTTCCAATATGTGG	0.418		NaN											0	0	0	1	0	22	57				
MME	4311	broad.mit.edu	37	3	154862187	154862187	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154862187C>G	uc010hvr.1	+	14	1568	c.1357C>G	c.(1357-1359)CAG>GAG	p.Q453E	MME_uc003fab.1_Missense_Mutation_p.Q453E|MME_uc003fac.1_Missense_Mutation_p.Q453E|MME_uc003fad.1_Missense_Mutation_p.Q453E|MME_uc003fae.1_Missense_Mutation_p.Q453E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	453	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGTTTTTATTCAGACTTTAGA	0.363		NaN											0	0	0	1	0	8	32				
SLC33A1	9197	broad.mit.edu	37	3	155571672	155571672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:155571672G>A	uc003fan.3	-	1	496	c.115C>T	c.(115-117)CAT>TAT	p.H39Y	SLC33A1_uc003fao.1_Missense_Mutation_p.H39Y	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	39	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGTCCAAATGACTGTCATCC	0.612		NaN											0	0	0	1	0	22	59				
SSR3	6747	broad.mit.edu	37	3	156271470	156271470	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:156271470C>T	uc003fau.2	-	2	291	c.234G>A	c.(232-234)AAG>AAA	p.K78K	SSR3_uc011bop.1_Silent_p.K78K	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	signal sequence receptor gamma subunit	78	Lumenal (Potential).				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding				0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTCACATTCTTGTATGCAA	0.333		NaN											0	0	0	1	0	10	37				
SMC4	10051	broad.mit.edu	37	3	160119741	160119741	+	Missense_Mutation	SNP	G	G	A	rs141249752	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:160119741G>A	uc003fdh.2	+	3	291	c.178G>A	c.(178-180)GAG>AAG	p.E60K	IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.E60K|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Missense_Mutation_p.E60K|SMC4_uc010hwd.2_Missense_Mutation_p.E60K|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	60					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGTTTAGAAGAGATTTTGAA	0.448		NaN											0	0	0	1	0	33	111				
SI	6476	broad.mit.edu	37	3	164712184	164712184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164712184G>A	uc003fei.2	-	41	4764	c.4702C>T	c.(4702-4704)CCC>TCC	p.P1568S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1568	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGAAGCGGGATCTTGTCTC	0.299		NaN								HNSCC(35;0.089)			0	0	0	1	0	21	54				
SLITRK3	22865	broad.mit.edu	37	3	164907342	164907342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164907342G>A	uc003fej.3	-	2	1721	c.1277C>T	c.(1276-1278)TCT>TTT	p.S426F	SLITRK3_uc003fek.2_Missense_Mutation_p.S426F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	426	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCAAAAATCAGAACGGTATAT	0.388		NaN								HNSCC(40;0.11)			0	0	0	1	0	11	38				
SERPINI2	5276	broad.mit.edu	37	3	167159970	167159970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:167159970G>A	uc003fer.1	-	8	1203	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	SERPINI2_uc003fes.1_Missense_Mutation_p.S392L|SERPINI2_uc003fet.1_Missense_Mutation_p.S382L	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	382					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						AAACAGAATTGATTCTAGGGA	0.313		NaN											0	0	0	1	0	7	15				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	10	32		Valid		
ZNF639	51193	broad.mit.edu	37	3	179050806	179050806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179050806G>A	uc003fjq.1	+	5	542	c.199G>A	c.(199-201)GAC>AAC	p.D67N	ZNF639_uc003fjr.1_Missense_Mutation_p.D67N	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	67					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			gacgtcaaatgacttgccaaa	0.05		NaN											0	0	0	1	0	2	1				
ACTL6A	86	broad.mit.edu	37	3	179291249	179291249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179291249G>C	uc003fjw.2	+	4	543	c.370G>C	c.(370-372)GAG>CAG	p.E124Q	ACTL6A_uc003fjx.2_Missense_Mutation_p.E82Q|ACTL6A_uc003fjy.2_Missense_Mutation_p.E82Q	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	124					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCTCATGTCAGAGGCACCGGT	0.323		NaN											0	0	0	1	0	19	42				
PEX5L	51555	broad.mit.edu	37	3	179533669	179533669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179533669G>A	uc003fki.1	-	10	1193	c.1063C>T	c.(1063-1065)CAG>TAG	p.Q355*	PEX5L_uc011bqd.1_Nonsense_Mutation_p.Q312*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.Q163*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.Q247*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q320*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q353*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q331*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q296*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	355					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAGGGTCCTGAAGAATTGCT	0.507		NaN											0	0	0	1	0	20	68				
TTC14	151613	broad.mit.edu	37	3	180322650	180322650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:180322650G>A	uc003fkk.2	+	6	844	c.712G>A	c.(712-714)GAG>AAG	p.E238K	TTC14_uc003fkl.2_Missense_Mutation_p.E238K|TTC14_uc003fkm.2_Missense_Mutation_p.E238K	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	238	TPR 1.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGAAGTGTTGAGCTAAATAG	0.303		NaN											0	0	0	1	0	4	26				
DCUN1D1	54165	broad.mit.edu	37	3	182683333	182683333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182683333C>G	uc003fld.1	-	2	261	c.212G>C	c.(211-213)AGA>ACA	p.R71T	DCUN1D1_uc011bqn.1_5'UTR	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	71	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACCTTTGTATCTATTGTACAG	0.328		NaN											0	0	0	1	0	5	11				
B3GNT5	84002	broad.mit.edu	37	3	182987774	182987774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987774C>T	uc003flk.2	+	2	718	c.188C>T	c.(187-189)TCT>TTT	p.S63F	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.S63F|B3GNT5_uc003flm.2_Missense_Mutation_p.S63F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	63	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATACCCTGTCTCTTAAGCAC	0.393		NaN											0	0	0	1	0	24	83				
B3GNT5	84002	broad.mit.edu	37	3	182987776	182987776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987776C>T	uc003flk.2	+	2	720	c.190C>T	c.(190-192)CTT>TTT	p.L64F	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.L64F|B3GNT5_uc003flm.2_Missense_Mutation_p.L64F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	64	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCCTGTCTCTTAAGCACAC	0.403		NaN											0	0	0	1	0	24	83				
HTR3E	285242	broad.mit.edu	37	3	183823613	183823613	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:183823613C>G	uc010hxq.2	+	7	1247	c.781C>G	c.(781-783)CTG>GTG	p.L261V	HTR3E_uc003fml.3_Missense_Mutation_p.L246V|HTR3E_uc003fmm.2_Missense_Mutation_p.L276V|HTR3E_uc010hxr.2_Missense_Mutation_p.L287V|HTR3E_uc003fmn.2_Missense_Mutation_p.L261V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	261	Helical; Name=1; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCTTTCTGGTTGCCAT	0.547		NaN											0	0	0	1	0	29	113				
EIF4G1	1981	broad.mit.edu	37	3	184043095	184043095	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:184043095C>A	uc003fnp.2	+	19	3093	c.2895C>A	c.(2893-2895)ATC>ATA	p.I965I	EIF4G1_uc003fno.1_Silent_p.I906I|EIF4G1_uc010hxw.1_Silent_p.I801I|EIF4G1_uc003fnt.2_Silent_p.I676I|EIF4G1_uc003fnq.2_Silent_p.I878I|EIF4G1_uc003fnr.2_Silent_p.I801I|EIF4G1_uc010hxx.2_Silent_p.I972I|EIF4G1_uc003fns.2_Silent_p.I925I|EIF4G1_uc010hxy.2_Silent_p.I972I|EIF4G1_uc003fnv.3_Silent_p.I966I|EIF4G1_uc003fnu.3_Silent_p.I965I|EIF4G1_uc003fnw.2_Silent_p.I972I|EIF4G1_uc003fnx.2_Silent_p.I770I|EIF4G1_uc003fny.3_Silent_p.I769I|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	965	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAAAAAATCATTAAAGAAA	0.532		NaN											1	0	3.67414e-24	1	3.91955e-24	35	113				
MAP3K13	9175	broad.mit.edu	37	3	185146691	185146691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:185146691G>C	uc010hyf.2	+	3	588	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.E108Q|MAP3K13_uc010hyg.2_5'UTR	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	108					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGTGGACGGAGAGAGCACAAG	0.517		NaN											0	0	0	1	0	25	45				
CLDN16	10686	broad.mit.edu	37	3	190105989	190105989	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:190105989G>A	uc003fsi.2	+	1	149	c.81G>A	c.(79-81)GTG>GTA	p.V27V	CLDN16_uc010hze.2_Silent_p.V27V	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	27	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGCAGGGCGTGAGAAAAAGTA	0.502		NaN											0	0	0	1	0	7	47				
HES1	3280	broad.mit.edu	37	3	193855564	193855564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:193855564G>C	uc003ftq.1	+	4	621	c.385G>C	c.(385-387)GAG>CAG	p.E129Q		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	129	Orange.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GTCCACGTGCGAGGGCGTTAA	0.657		NaN											0	0	0	1	0	21	86				
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:195505851T>C	uc011bto.1	-	3	12676	c.12216A>G	c.(12214-12216)TCA>TCG	p.S4072S	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	963	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592		NaN											0	0	0	1	0	2	2				
RNF168	165918	broad.mit.edu	37	3	196199034	196199034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:196199034C>T	uc003fwq.2	-	6	1910	c.1372G>A	c.(1372-1374)GAT>AAT	p.D458N	RNF168_uc010iah.2_Missense_Mutation_p.D291N|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	458	MIU motif 2.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGCTCTTTATCCACCTCCTTC	0.438		NaN											0	0	0	1	0	47	118				
ZNF732	654254	broad.mit.edu	37	4	265128	265128	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:265128C>T	uc011buu.1	-	3	1529	c.1515G>A	c.(1513-1515)GAG>GAA	p.E505E	ZNF732_uc010ibb.1_Intron	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	zinc finger protein 732	506	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTGCCACACTCTTCACATT	0.388		NaN											0	0	0	1	0	4	19				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:952220A>C	uc003gbq.2	+	11	1549	c.1451A>C	c.(1450-1452)CAC>CCC	p.H484P	TMEM175_uc003gbr.2_Missense_Mutation_p.H402P|TMEM175_uc003gbu.2_Missense_Mutation_p.H402P|TMEM175_uc003gbs.2_Missense_Mutation_p.H367P|TMEM175_uc003gbt.2_Missense_Mutation_p.H367P|TMEM175_uc003gbv.2_Missense_Mutation_p.H367P|TMEM175_uc010ibm.2_Missense_Mutation_p.H300P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736		NaN											0	0	0	1	0	7	20				
MAEA	10296	broad.mit.edu	37	4	1305911	1305911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:1305911G>T	uc003gda.2	+	2	244	c.214G>T	c.(214-216)GAC>TAC	p.D72Y	MAEA_uc010ibs.1_Missense_Mutation_p.D72Y|MAEA_uc003gdb.2_Missense_Mutation_p.D72Y|MAEA_uc011bvb.1_Missense_Mutation_p.D72Y|MAEA_uc003gdc.2_Missense_Mutation_p.D72Y|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.D71Y|MAEA_uc011bvd.1_Missense_Mutation_p.D24Y	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	72	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CAGCCTGCTGGACGGCGTGGT	0.632		NaN											1	0	3.07112e-06	1	3.15306e-06	11	54				
POLN	353497	broad.mit.edu	37	4	2172900	2172900	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:2172900G>C	uc003ger.2	-	10	1383	c.1383C>G	c.(1381-1383)CTC>CTG	p.L461L	POLN_uc010ich.1_Silent_p.L52L|POLN_uc011bvi.1_Silent_p.L461L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	461					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAATTCCTTGAGACGAGCCT	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	16	73				
HTT	3064	broad.mit.edu	37	4	3176447	3176447	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3176447G>A	uc011bvq.1	+	33	4318	c.4173_splice	c.e33-1	p.G1391_splice		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATTTGGCAGATGGTTTGAT	0.423		NaN											0	0	0	1	0	14	31				
HTT	3064	broad.mit.edu	37	4	3213724	3213724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3213724G>A	uc011bvq.1	+	49	6634	c.6489G>A	c.(6487-6489)AAG>AAA	p.K2163K		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2161					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCCAGAAGAGTGCCCTTT	0.532		NaN											0	0	0	1	0	26	94				
DOK7	285489	broad.mit.edu	37	4	3494825	3494825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3494825C>T	uc003ghd.2	+	7	1182	c.1112C>T	c.(1111-1113)TCA>TTA	p.S371L	DOK7_uc003ghe.2_Missense_Mutation_p.S233L|DOK7_uc003ghf.2_Missense_Mutation_p.H113Y|DOK7_uc003ghg.1_Missense_Mutation_p.S61L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	371					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAACTGGGCTCACTGCTCAGC	0.701		NaN											0	0	0	1	0	6	19				
LYAR	55646	broad.mit.edu	37	4	4276349	4276349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:4276349C>T	uc011bvy.1	-	7	720	c.577G>A	c.(577-579)GAA>AAA	p.E193K	LYAR_uc011bvx.1_Missense_Mutation_p.E76K|LYAR_uc003ght.2_Missense_Mutation_p.E193K	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	193	Potential.|Lys-rich.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tgccgttcttcctttctttct	0.338		NaN											0	0	0	1	0	25	88				
HTRA3	94031	broad.mit.edu	37	4	8293139	8293139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:8293139C>T	uc003gla.2	+	4	955	c.751C>T	c.(751-753)CGG>TGG	p.R251W	HTRA3_uc003gkz.2_Missense_Mutation_p.R251W	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	251	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GGCCGACCTGCGGCCTGGGGA	0.612		NaN											0	0	0	1	0	22	105				
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10027568C>T	uc003gmd.2	-	2	182	c.23G>A	c.(22-24)CGA>CAA	p.R8Q		NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	Error:Variant_position_missing_in_Q9NRM0_after_alignment					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						ATCTTCTCCTCGGTCCTTTTT	0.388		NaN											0	0	0	1	0	5	57				
WDR1	9948	broad.mit.edu	37	4	10079487	10079487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10079487C>T	uc003gmf.2	-	13	1742	c.1459G>A	c.(1459-1461)GAG>AAG	p.E487K	WDR1_uc003gmg.2_Missense_Mutation_p.E347K|WDR1_uc010idm.2_RNA	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	487	WD 9.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCTTGGCCTCTAGGAGCTTG	0.642		NaN											0	0	0	1	0	7	26				
ZNF518B	85460	broad.mit.edu	37	4	10446884	10446884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10446884G>A	uc003gmn.2	-	3	1556	c.1069C>T	c.(1069-1071)CAG>TAG	p.Q357*		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACAAGCTGCTGTGTACCATTG	0.453		NaN											0	0	0	1	0	36	105				
CC2D2A	57545	broad.mit.edu	37	4	15602891	15602891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:15602891C>G	uc010idv.2	+	38	4951	c.4706C>G	c.(4705-4707)TCT>TGT	p.S1569C	CC2D2A_uc003gnx.2_Missense_Mutation_p.S1461C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1569					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATGCCTTATTCTGAAGTGAAG	0.333		NaN											0	0	0	1	0	6	14				
LGI2	55203	broad.mit.edu	37	4	25005550	25005550	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25005550G>A	uc003grf.2	-	8	1260	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	387	EAR 4.					extracellular region					0		Breast(46;0.173)				TGGACAGGATGAGATGCGATT	0.493		NaN											0	0	0	1	0	42	123				
ANAPC4	29945	broad.mit.edu	37	4	25419344	25419344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25419344C>T	uc003gro.2	+	28	2311	c.2182C>T	c.(2182-2184)CGA>TGA	p.R728*	ANAPC4_uc003grp.2_Nonsense_Mutation_p.R614*|ANAPC4_uc003grq.2_Nonsense_Mutation_p.R181*	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	728					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				GAATGGTTTTCGAAAAGTGTC	0.398		NaN											0	0	0	1	0	30	89				
TLR6	10333	broad.mit.edu	37	4	38830852	38830852	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:38830852C>G	uc003gtm.2	-	1	309	c.243G>C	c.(241-243)TTG>TTC	p.L81F	TLR6_uc010ifg.1_Missense_Mutation_p.L81F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	81	LRR 2.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						GGGAAAGTCTCAAAACTGTCA	0.373		NaN											0	0	0	1	0	14	49				
RFC1	5981	broad.mit.edu	37	4	39318616	39318616	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:39318616C>G	uc003gty.1	-	10	1256	c.1122G>C	c.(1120-1122)AAG>AAC	p.K374N	RFC1_uc003gtx.1_Missense_Mutation_p.K374N	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	374					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TAGTGCGTTTCTTTTCAGAAT	0.378		NaN											0	0	0	1	0	15	31				
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:46979555C>T	uc003gxg.2	-	4	505	c.366G>A	c.(364-366)ATG>ATA	p.M122I		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	122	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGTTACCATCATATTGTTCA	0.363		NaN											0	0	0	1	0	16	43				
ATP10D	57205	broad.mit.edu	37	4	47525165	47525165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:47525165G>A	uc003gxk.1	+	4	786	c.622G>A	c.(622-624)GAG>AAG	p.E208K	ATP10D_uc003gxj.3_Missense_Mutation_p.E208K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTGTCACATTGAGACTTCTGG	0.458		NaN											0	0	0	1	0	13	50				
TEC	7006	broad.mit.edu	37	4	48140806	48140806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:48140806C>G	uc003gxz.2	-	17	1779	c.1688G>C	c.(1687-1689)AGA>ACA	p.R563T		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	563	Protein kinase.		R -> K (in a lung adenocarcinoma sample; somatic mutation).		intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R563K(1)		lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						AAAAGGCATTCTGCCTTCCGT	0.458		NaN											0	0	0	1	0	14	50				
FIP1L1	81608	broad.mit.edu	37	4	54294335	54294335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:54294335C>G	uc003gzy.2	+	13	1345	c.1159C>G	c.(1159-1161)CTG>GTG	p.L387V	PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.L372V|FIP1L1_uc011bzt.1_Missense_Mutation_p.L351V|FIP1L1_uc011bzu.1_Missense_Mutation_p.L372V|FIP1L1_uc003gzz.2_Missense_Mutation_p.L313V|FIP1L1_uc003hab.2_Missense_Mutation_p.L352V|FIP1L1_uc003hac.2_Missense_Mutation_p.L132V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	387	Pro-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCTCCACCTCTGATTCCACC	0.289		NaN	T	PDGFRA	idiopathic hypereosinophilic syndrome								0	0	0	1	0	13	56				
EPHA5	2044	broad.mit.edu	37	4	66218798	66218798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66218798C>G	uc003hcy.2	-	13	2453	c.2260G>C	c.(2260-2262)GAG>CAG	p.E754Q	EPHA5_uc003hcx.2_Missense_Mutation_p.E686Q|EPHA5_uc003hcz.2_Missense_Mutation_p.E732Q|EPHA5_uc011cah.1_Missense_Mutation_p.E755Q|EPHA5_uc011cai.1_Missense_Mutation_p.E733Q|EPHA5_uc003hda.2_Missense_Mutation_p.E755Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	754	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCATATACTCTGTCACGATC	0.358		NaN								TSP Lung(17;0.13)			0	0	0	1	0	14	26				
EPHA5	2044	broad.mit.edu	37	4	66231707	66231707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66231707C>A	uc003hcy.2	-	11	2186	c.1993G>T	c.(1993-1995)GAA>TAA	p.E665*	EPHA5_uc003hcx.2_Nonsense_Mutation_p.E597*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E643*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E666*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E644*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E666*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	665	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTAGCAAATTCGTGGACAGCT	0.363		NaN								TSP Lung(17;0.13)			1	0	1.2644e-06	1	1.30368e-06	21	66				
GNRHR	2798	broad.mit.edu	37	4	68619556	68619556	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:68619556G>T	uc003hdn.2	-	1	2249	c.498C>A	c.(496-498)CTC>CTA	p.L166L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.L166L	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	166	Helical; Name=4; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGACACTACTGAGGATCCAGG	0.463		NaN											1	0	1.12685e-05	1	1.14925e-05	9	29				
GC	2638	broad.mit.edu	37	4	72649680	72649680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:72649680C>G	uc003hge.2	-	1	209	c.56G>C	c.(55-57)AGA>ACA	p.R19T	GC_uc010iie.2_Missense_Mutation_p.R19T|GC_uc010iif.2_Missense_Mutation_p.R38T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	19	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AATCTTACCTCTCTCTAAAGC	0.363		NaN											0	0	0	1	0	16	44				
CXCL13	10563	broad.mit.edu	37	4	78528941	78528941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78528941G>A	uc003hkr.2	+	3	227	c.149G>A	c.(148-150)CGA>CAA	p.R50Q		NM_006419	NP_006410	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13 (B-cell	50					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity				0						TTCATTGATCGAATTCAAATC	0.393		NaN											0	0	0	1	0	21	66				
CNOT6L	246175	broad.mit.edu	37	4	78695757	78695757	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78695757G>A	uc011ccd.1	-	3	372	c.241C>T	c.(241-243)CTG>TTG	p.L81L	CNOT6L_uc003hks.2_Silent_p.L81L|CNOT6L_uc011cce.1_Silent_p.L81L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	81	LRR 2.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						AGGTAAACCAGATTATGAAGC	0.418		NaN											0	0	0	1	0	8	30				
GK2	2712	broad.mit.edu	37	4	80328225	80328225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:80328225C>G	uc003hlu.2	-	1	1148	c.1130G>C	c.(1129-1131)AGA>ACA	p.R377T		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	377					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GAGTATCCCTCTTGCACTGGG	0.428		NaN											0	0	0	1	0	27	107				
PRKG2	5593	broad.mit.edu	37	4	82056420	82056420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:82056420G>C	uc003hmh.2	-	13	1679	c.1665C>G	c.(1663-1665)TTC>TTG	p.F555L	PRKG2_uc011ccf.1_Missense_Mutation_p.F135L|PRKG2_uc011ccg.1_Missense_Mutation_p.F135L|PRKG2_uc011cch.1_Missense_Mutation_p.F526L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	555	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						AAGCAACGCAGAATTTGGAGG	0.408		NaN											0	0	0	1	0	21	49				
MAPK10	5602	broad.mit.edu	37	4	87023143	87023143	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87023143C>T	uc003hpq.2	-	6	535	c.468G>A	c.(466-468)GTG>GTA	p.V156V	MAPK10_uc010ikg.2_Silent_p.V118V|MAPK10_uc003hpr.2_Silent_p.V118V|MAPK10_uc003hps.2_Silent_p.V156V|MAPK10_uc003hpt.2_Silent_p.V156V|MAPK10_uc003hpu.2_Silent_p.V156V|MAPK10_uc003hpv.2_Silent_p.V11V|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Silent_p.V11V|MAPK10_uc011ccw.1_Silent_p.V42V|MAPK10_uc003hpp.2_Silent_p.V11V	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	156	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCATCTGAATCACTTGACATA	0.408		NaN											0	0	0	1	0	31	133				
PTPN13	5783	broad.mit.edu	37	4	87622524	87622524	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87622524C>G	uc003hpz.2	+	7	1245	c.765C>G	c.(763-765)TTC>TTG	p.F255L	PTPN13_uc003hpy.2_Missense_Mutation_p.F255L|PTPN13_uc003hqa.2_Missense_Mutation_p.F255L|PTPN13_uc003hqb.2_Missense_Mutation_p.F255L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	255						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAATTATTTCAAGGACATTT	0.378		NaN											0	0	0	1	0	5	15				
SMARCAD1	56916	broad.mit.edu	37	4	95185963	95185963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:95185963G>A	uc003htc.3	+	10	1642	c.1387G>A	c.(1387-1389)GAA>AAA	p.E463K	SMARCAD1_uc003htb.3_Missense_Mutation_p.E463K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E463K|SMARCAD1_uc010ila.2_Missense_Mutation_p.E326K|SMARCAD1_uc011cdw.1_Missense_Mutation_p.E33K	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	463					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAACAAATGTGAAGACATTTC	0.348		NaN											0	0	0	1	0	16	48				
C4orf17	84103	broad.mit.edu	37	4	100434320	100434320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:100434320C>G	uc003huw.2	+	2	405	c.82C>G	c.(82-84)CTA>GTA	p.L28V	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	28											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGCTGCTTTCTAGTCAGGCA	0.458		NaN											0	0	0	1	0	22	97				
SGMS2	166929	broad.mit.edu	37	4	108820810	108820810	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:108820810C>T	uc003hyl.3	+	4	1090	c.535C>T	c.(535-537)CTA>TTA	p.L179L	uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.L179L|SGMS2_uc003hyo.2_Silent_p.L179L	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	179	Helical; (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TGTTACTACTCTACCTGTGCC	0.398		NaN											0	0	0	1	0	25	81				
EGF	1950	broad.mit.edu	37	4	110932606	110932606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110932606C>G	uc003hzy.3	+	24	4071	c.3619C>G	c.(3619-3621)CAG>GAG	p.Q1207E	EGF_uc011cfu.1_Missense_Mutation_p.Q1165E|EGF_uc011cfv.1_Missense_Mutation_p.Q1166E|EGF_uc010imk.2_3'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1207	Cytoplasmic (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAGCTGACTCAGTGAAAACT	0.443		NaN											0	0	0	1	0	22	97				
ELOVL6	79071	broad.mit.edu	37	4	110972518	110972518	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110972518C>T	uc003hzz.2	-	5	900	c.774G>A	c.(772-774)ATG>ATA	p.M258I	ELOVL6_uc003iaa.2_Missense_Mutation_p.M258I	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	258					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TTGTTTTCCTCATTTTGCCGA	0.428		NaN											0	0	0	1	0	17	65				
C4orf21	55345	broad.mit.edu	37	4	113507724	113507724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:113507724C>T	uc003iau.2	-	13	4004	c.3793G>A	c.(3793-3795)GAG>AAG	p.E1265K	C4orf21_uc003iav.2_RNA	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	87						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGCACAGCTCAGAGCCACTT	0.353		NaN											0	0	0	1	0	7	47				
TRPC3	7222	broad.mit.edu	37	4	122853555	122853555	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:122853555C>T	uc003ieg.2	-	2	932	c.858G>A	c.(856-858)TCG>TCA	p.S286S	TRPC3_uc010inr.2_Silent_p.S213S|TRPC3_uc003ief.2_Silent_p.S213S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	201	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CATTGATCCTCGAGCGTGAGT	0.612		NaN											0	0	0	1	0	13	55				
KIAA1109	84162	broad.mit.edu	37	4	123237989	123237989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:123237989G>A	uc003ieh.2	+	60	10687	c.10642G>A	c.(10642-10644)GAA>AAA	p.E3548K	KIAA1109_uc003iel.1_Missense_Mutation_p.E1483K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3548					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGAACTGAATGAACAGGCCAA	0.313		NaN											0	0	0	1	0	13	52				
FAT4	79633	broad.mit.edu	37	4	126238455	126238455	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126238455C>G	uc003ifj.3	+	1	889	c.889C>G	c.(889-891)CAA>GAA	p.Q297E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	297	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACCCCCTTCCAAATGGACCC	0.662		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	17	63				
FAT4	79633	broad.mit.edu	37	4	126370600	126370600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126370600C>G	uc003ifj.3	+	9	8429	c.8429C>G	c.(8428-8430)TCT>TGT	p.S2810C	FAT4_uc011cgp.1_Missense_Mutation_p.S1108C|FAT4_uc003ifi.1_Missense_Mutation_p.S288C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2810	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGTAGATATTCTATAATGGAT	0.388		NaN											0	0	0	1	0	18	63				
NAA15	80155	broad.mit.edu	37	4	140297588	140297588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140297588G>A	uc003ihu.1	+	16	2273	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	673	TPR 8.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GAACAAGATAGAGACTCATCT	0.338		NaN											0	0	0	1	0	18	44				
MAML3	55534	broad.mit.edu	37	4	140811578	140811578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140811578C>G	uc003ihz.1	-	2	1764	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	338					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					AATTCTGGCTCCTTCTTCTCT	0.512		NaN											0	0	0	1	0	18	56				
TBC1D9	23158	broad.mit.edu	37	4	141545369	141545369	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:141545369C>G	uc010ioj.2	-	20	3251	c.2979G>C	c.(2977-2979)AAG>AAC	p.K993N		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	993						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATTTGCTCTCTTCCCTACAA	0.353		NaN											0	0	0	1	0	5	10				
OTUD4	54726	broad.mit.edu	37	4	146077090	146077090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:146077090C>T	uc003ika.3	-	8	631	c.493G>A	c.(493-495)GAG>AAG	p.E165K	OTUD4_uc003ijz.3_Missense_Mutation_p.E165K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	230				E -> EQ (in Ref. 1; BAG63836, 3; EAX05045/EAX05046 and 7; AAI18573/ AAI18654).			protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AAAAATACCTCATTGCCTGAC	0.308		NaN											0	0	0	1	0	7	33				
SH3D19	152503	broad.mit.edu	37	4	152096430	152096430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:152096430G>C	uc010ipl.1	-	7	1176	c.86C>G	c.(85-87)TCA>TGA	p.S29*	SH3D19_uc003imc.2_Nonsense_Mutation_p.S29*|SH3D19_uc003ime.2_Nonsense_Mutation_p.S29*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.S29*	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	29					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGCAGTCCTGAGGTTTCTAT	0.433		NaN											0	0	0	1	0	38	122				
FHDC1	85462	broad.mit.edu	37	4	153897464	153897464	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:153897464C>T	uc003inf.2	+	11	3096	c.3021C>T	c.(3019-3021)TCC>TCT	p.S1007S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1007					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCGCCCACTCCGAGGGCCCTG	0.622		NaN											0	0	0	1	0	23	83				
KIAA0922	23240	broad.mit.edu	37	4	154514972	154514972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154514972G>C	uc003inm.3	+	19	1993	c.1941G>C	c.(1939-1941)ATG>ATC	p.M647I	KIAA0922_uc010ipp.2_Missense_Mutation_p.M648I|KIAA0922_uc010ipq.2_Missense_Mutation_p.M416I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	647	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGCAGATGATTAATTTCA	0.373		NaN											0	0	0	1	0	8	36				
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154625437G>C	uc003inq.2	+	3	1597	c.1378G>C	c.(1378-1380)GAA>CAA	p.E460Q	TLR2_uc003inr.2_Missense_Mutation_p.E460Q|TLR2_uc003ins.2_Missense_Mutation_p.E460Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	460	LRR 12.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGACACTGGAAATTTTAGA	0.358		NaN											0	0	0	1	0	26	56				
SFRP2	6423	broad.mit.edu	37	4	154702903	154702903	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154702903C>T	uc003inv.1	-	3	829	c.588G>A	c.(586-588)CTG>CTA	p.L196L		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	196	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				CTTTTATTTTCAGTGCTATGA	0.458		NaN											0	0	0	1	0	30	98				
DCHS2	54798	broad.mit.edu	37	4	155180751	155180751	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:155180751G>A	uc003inw.2	-	20	5370	c.5370C>T	c.(5368-5370)AGC>AGT	p.S1790S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1790	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTAAATGCTTTGTTCAA	0.328		NaN											0	0	0	1	0	11	146				
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:175898316C>T	uc003iuc.2	+	5	2310	c.1640C>T	c.(1639-1641)TCA>TTA	p.S547L	ADAM29_uc003iud.2_Missense_Mutation_p.S547L|ADAM29_uc010irr.2_Missense_Mutation_p.S547L|ADAM29_uc011cki.1_Missense_Mutation_p.S547L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	547	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAG	0.388		NaN											0	0	0	1	0	32	109				
SLC6A19	340024	broad.mit.edu	37	5	1208934	1208934	+	Silent	SNP	C	C	T	rs146678323	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1208934C>T	uc003jbw.3	+	2	332	c.276C>T	c.(274-276)ATC>ATT	p.I92I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	92	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTTCGCCATCGGGCAGCGGC	0.667		NaN											0	0	0	1	0	36	82				
IRX4	50805	broad.mit.edu	37	5	1879900	1879900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1879900C>T	uc003jcz.2	-	4	573	c.454G>A	c.(454-456)GAG>AAG	p.E152K	IRX4_uc011cmf.1_Missense_Mutation_p.E13K	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	152	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CTGGTGGTCTCGCGCGTGGCG	0.642		NaN											0	0	0	1	0	40	93				
ADCY2	108	broad.mit.edu	37	5	7773074	7773074	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:7773074G>A	uc003jdz.1	+	18	2311	c.2244G>A	c.(2242-2244)CTG>CTA	p.L748L	ADCY2_uc011cmo.1_Silent_p.L568L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	748	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TTCTGGGACTGATATCCTGTT	0.463		NaN											0	0	0	1	0	41	116				
SEMA5A	9037	broad.mit.edu	37	5	9136626	9136626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:9136626G>C	uc003jek.2	-	13	2301	c.1589C>G	c.(1588-1590)TCT>TGT	p.S530C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	530	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CGGACACGCAGAGATGCTCTG	0.577		NaN											0	0	0	1	0	11	46				
CDH6	1004	broad.mit.edu	37	5	31316392	31316392	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:31316392G>A	uc003jhe.1	+	9	1794	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	CDH6_uc003jhd.1_Missense_Mutation_p.E490K	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	490	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AGAATTTGCTGAGTTCTATGA	0.333		NaN											0	0	0	1	0	6	27				
PDZD2	23037	broad.mit.edu	37	5	32093126	32093126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:32093126C>G	uc003jhl.2	+	21	8229	c.7841C>G	c.(7840-7842)TCA>TGA	p.S2614*	PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2614*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2614					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAAGCACAATCAGAGGTGAGT	0.537		NaN									OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	19	80				
RXFP3	51289	broad.mit.edu	37	5	33937997	33937997	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:33937997C>A	uc003jic.1	+	1	1509	c.1152C>A	c.(1150-1152)CTC>CTA	p.L384L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	384	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACAGCTGCCTCAACCCCGTCC	0.617		NaN											1	0	3.50607e-19	1	3.71915e-19	51	147				
NIPBL	25836	broad.mit.edu	37	5	36953855	36953855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:36953855C>T	uc003jkl.3	+	2	556	c.57C>T	c.(55-57)CTC>CTT	p.L19L	NIPBL_uc003jkk.3_Silent_p.L19L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	19					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCTAGTCTCACAGACCGTA	0.348		NaN											0	0	0	1	0	19	52				
RICTOR	253260	broad.mit.edu	37	5	38966820	38966820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:38966820G>C	uc003jlp.2	-	15	1246	c.1222C>G	c.(1222-1224)CTA>GTA	p.L408V	RICTOR_uc003jlo.2_Missense_Mutation_p.L408V|RICTOR_uc010ivf.2_Missense_Mutation_p.L123V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	408					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					ACTTCAACTAGACCCTTTGAA	0.274		NaN											0	0	0	1	0	8	19				
FYB	2533	broad.mit.edu	37	5	39202544	39202544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:39202544C>G	uc003jls.2	-	1	586	c.519G>C	c.(517-519)TTG>TTC	p.L173F	FYB_uc003jlt.2_Missense_Mutation_p.L173F|FYB_uc003jlu.2_Missense_Mutation_p.L173F|FYB_uc011cpl.1_Missense_Mutation_p.L183F	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	173					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACCCCAGTCAATTTGGGAA	0.498		NaN											0	0	0	1	0	28	101				
FGF10	2255	broad.mit.edu	37	5	44388630	44388630	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44388630G>C	uc003jog.1	-	1	155	c.155C>G	c.(154-156)TCT>TGT	p.S52C		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	52	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					GGAGGAAGAAGAGTTGGTGGC	0.547		NaN											0	0	0	1	0	28	49				
MRPS30	10884	broad.mit.edu	37	5	44811174	44811174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44811174G>A	uc003joh.2	+	2	703	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	MRPS30_uc003joi.1_RNA	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	222					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					CGTGGTCATCGAAGAGGTCGA	0.373		NaN											0	0	0	1	0	15	47				
IL31RA	133396	broad.mit.edu	37	5	55206499	55206499	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55206499C>T	uc003jql.2	+	12	1706	c.1641C>T	c.(1639-1641)TTC>TTT	p.F547F	IL31RA_uc003jqm.2_Silent_p.F515F|IL31RA_uc003jqn.2_Silent_p.F547F|IL31RA_uc010iwa.1_Silent_p.F510F|IL31RA_uc003jqo.2_Silent_p.F405F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	515	Extracellular (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGTCATTCAGTGAGTATT	0.463		NaN											0	0	0	1	0	34	106				
IL6ST	3572	broad.mit.edu	37	5	55238517	55238517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55238517G>A	uc003jqq.2	-	16	2255	c.2000C>T	c.(1999-2001)TCA>TTA	p.S667L	IL6ST_uc010iwb.2_Missense_Mutation_p.S606L|IL6ST_uc010iwc.2_Missense_Mutation_p.H180Y|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Missense_Mutation_p.S378L|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	667	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTGTGAGGTGACCACTGGGC	0.368		NaN	O		hepatocellular ca								0	0	0	1	0	10	34				
ADAMTS6	11174	broad.mit.edu	37	5	64520832	64520832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64520832C>G	uc003jtp.2	-	17	2924	c.2110G>C	c.(2110-2112)GAT>CAT	p.D704H	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D325H	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	704					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CGACATCTATCTTCCCTAGCA	0.443		NaN											0	0	0	1	0	7	39				
PPWD1	23398	broad.mit.edu	37	5	64863366	64863366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64863366G>C	uc003jtv.3	+	2	230	c.223G>C	c.(223-225)GAT>CAT	p.D75H	PPWD1_uc011cqv.1_Missense_Mutation_p.D45H|PPWD1_uc011cqw.1_Intron	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	75					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGTCTATCTTGATAATCTCCC	0.313		NaN											0	0	0	1	0	11	36				
CDK7	1022	broad.mit.edu	37	5	68548244	68548244	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:68548244G>C	uc003jvs.3	+	3	308	c.127_splice	c.e3-1	p.I43_splice	CDK7_uc010ixd.1_Splice_Site_p.I43_splice|CDK7_uc003jvt.3_Splice_Site_p.I2_splice|CDK7_uc003jvu.3_Splice_Site	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7						androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTTTCTACCAGATCAAACTTG	0.259		NaN						NER					0	0	0	1	0	32	116				
POLK	51426	broad.mit.edu	37	5	74892360	74892360	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:74892360G>A	uc003kdw.2	+	13	1938	c.1842G>A	c.(1840-1842)GAG>GAA	p.E614E	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E416E|POLK_uc003kec.2_Silent_p.E524E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E524E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	614					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAATATCAGAGAATTCAGATG	0.368		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	18	103				
DMGDH	29958	broad.mit.edu	37	5	78322343	78322343	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:78322343G>A	uc003kfs.2	-	13	2100	c.2094C>T	c.(2092-2094)ATC>ATT	p.I698I	DMGDH_uc011cte.1_Silent_p.I548I|DMGDH_uc011ctf.1_Silent_p.I497I|DMGDH_uc011ctg.1_Silent_p.I318I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	698					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTGCATTCATGATAGCGTCAT	0.512		NaN											0	0	0	1	0	22	74				
MSH3	4437	broad.mit.edu	37	5	79970869	79970869	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:79970869C>T	uc003kgz.2	+	7	1348	c.1095C>T	c.(1093-1095)ACC>ACT	p.T365T		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	365					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACTTCTACCAGCTATCTTC	0.323		NaN						MMR					0	0	0	1	0	22	65				
CKMT2	1160	broad.mit.edu	37	5	80553673	80553673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80553673G>C	uc003khc.3	+	8	1119	c.877G>C	c.(877-879)GAA>CAA	p.E293Q	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.E293Q|CKMT2_uc003khd.3_Missense_Mutation_p.E293Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	293	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGGACTAAAAGAAGTAAGATG	0.358		NaN											0	0	0	1	0	8	33				
SSBP2	23635	broad.mit.edu	37	5	80742738	80742738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80742738G>A	uc003kho.2	-	12	938	c.727C>T	c.(727-729)CCT>TCT	p.P243S	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.P131S|SSBP2_uc003khn.2_Missense_Mutation_p.P117S|SSBP2_uc003khp.2_Missense_Mutation_p.P251S|SSBP2_uc011ctp.1_Missense_Mutation_p.P223S|SSBP2_uc011ctq.1_Missense_Mutation_p.P221S|SSBP2_uc011ctr.1_Missense_Mutation_p.P213S	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	243	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTCCTGGAGGACCCTAAATA	0.343		NaN											0	0	0	1	0	14	32				
GPR98	84059	broad.mit.edu	37	5	89923556	89923556	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:89923556G>C	uc003kju.2	+	7	1297	c.1201G>C	c.(1201-1203)GAA>CAA	p.E401Q	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	401	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTTGTTTGAAAGGACAGT	0.299		NaN											0	0	0	1	0	8	39				
MCTP1	79772	broad.mit.edu	37	5	94278072	94278072	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94278072C>G	uc003kkx.2	-	4	1041	c.1041G>C	c.(1039-1041)CTG>CTC	p.L347L	MCTP1_uc003kkv.2_Silent_p.L126L|MCTP1_uc003kkw.2_Silent_p.L126L|MCTP1_uc003kkz.2_Silent_p.L8L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	347					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCAATTGTGTCAGATCCAGAA	0.313		NaN											0	0	0	1	0	18	45				
ARSK	153642	broad.mit.edu	37	5	94936565	94936565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94936565C>T	uc003kld.2	+	7	1269	c.1111C>T	c.(1111-1113)CCT>TCT	p.P371S	ARSK_uc010jbg.2_Missense_Mutation_p.P212S|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	371						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGCTGGAATTCCTCTGCCTCA	0.333		NaN											0	0	0	1	0	20	69				
ERAP2	64167	broad.mit.edu	37	5	96237258	96237258	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:96237258T>G	uc003kmq.2	+	11	2331	c.1621T>G	c.(1621-1623)TGG>GGG	p.W541G	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.W541G|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.W490G|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	541	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATGACTACATGGACTCTCCA	0.498		NaN											0	0	0	1	0	25	76				
DCP2	167227	broad.mit.edu	37	5	112321592	112321592	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:112321592G>T	uc003kqh.2	+	2	312	c.114G>T	c.(112-114)CAG>CAT	p.Q38H	DCP2_uc011cwa.1_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	38					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGTGTTTTCAGATTGAACTTG	0.373		NaN											1	0	4.2108e-06	1	4.32054e-06	32	86				
DMXL1	1657	broad.mit.edu	37	5	118500366	118500366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:118500366G>C	uc003ksd.2	+	20	5048	c.4867G>C	c.(4867-4869)GAA>CAA	p.E1623Q	DMXL1_uc010jcl.1_Missense_Mutation_p.E1623Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1623										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAATGCATAGAAAAAGTAAG	0.408		NaN											0	0	0	1	0	21	83				
ZNF608	57507	broad.mit.edu	37	5	123982976	123982976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:123982976G>C	uc003ktq.1	-	4	3224	c.3101C>G	c.(3100-3102)TCT>TGT	p.S1034C	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktt.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1034						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTTCCTCAGACTCCTTCTT	0.493		NaN											0	0	0	1	0	43	134				
FNIP1	96459	broad.mit.edu	37	5	130982830	130982830	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:130982830C>G	uc003kvs.1	-	17	3517	c.3375G>C	c.(3373-3375)CTG>CTC	p.L1125L	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.L1097L	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	1125					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGCCCCCTCAGGTATTCAG	0.468		NaN											0	0	0	1	0	34	128				
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:132652162C>G	uc003kyn.1	-	5	810	c.592G>C	c.(592-594)GAA>CAA	p.E198Q		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	198	Potential.|EF-hand.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557		NaN											0	0	0	1	0	17	73				
SEC24A	10802	broad.mit.edu	37	5	134060783	134060783	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134060783G>A	uc003kzs.2	+	23	3569	c.3281G>A	c.(3280-3282)TGA>TAA	p.*1094*	SEC24A_uc011cxu.1_Silent_p.*858*	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAATAAATGAATGAATGAA	0.308		NaN											0	0	0	1	0	6	18				
CATSPER3	347732	broad.mit.edu	37	5	134346119	134346119	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134346119G>C	uc003lag.2	+	7	1061	c.993G>C	c.(991-993)TTG>TTC	p.L331F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	331					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGACCTTGAGCCACACTG	0.463		NaN											0	0	0	1	0	39	69				
TIFAB	497189	broad.mit.edu	37	5	134785491	134785491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134785491G>A	uc003law.3	-	2	340	c.139C>T	c.(139-141)CAG>TAG	p.Q47*	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	47	FHA.										0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGCAGCTGGAGGTGGGCG	0.672		NaN											0	0	0	1	0	27	75				
SPOCK1	6695	broad.mit.edu	37	5	136403437	136403437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:136403437G>A	uc003lbo.2	-	5	747	c.556C>T	c.(556-558)CCT>TCT	p.P186S	SPOCK1_uc003lbp.2_Missense_Mutation_p.P186S	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	186					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGCTCAGGCTCTGGGAGA	0.547		NaN											0	0	0	1	0	37	92				
MATR3	9782	broad.mit.edu	37	5	138643397	138643397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:138643397C>T	uc003ldu.2	+	5	720	c.293C>T	c.(292-294)TCT>TTT	p.S98F	MATR3_uc003lds.2_Missense_Mutation_p.S98F|MATR3_uc010jfb.2_Missense_Mutation_p.S98F|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.S98F|MATR3_uc003ldx.2_Missense_Mutation_p.S98F|MATR3_uc010jfc.2_Missense_Mutation_p.S98F|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.S98F|MATR3_uc003lea.2_Missense_Mutation_p.S98F	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	98						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCTTTATCTTCTCAACAC	0.443		NaN											0	0	0	1	0	24	77				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139865267	139865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139865267C>T	uc003lfs.1	+	13	2216	c.2092C>T	c.(2092-2094)CCC>TCC	p.P698S	ANKHD1_uc003lfq.1_Missense_Mutation_p.P717S|ANKHD1_uc003lfr.2_Missense_Mutation_p.P698S|ANKHD1_uc003lft.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfv.1_Missense_Mutation_p.P28S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	698						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCAGTTCCCACCACAGA	0.383		NaN											0	0	0	1	0	19	41				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907508	139907508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907508G>A	uc003lfs.1	+	28	5262	c.5138G>A	c.(5137-5139)AGA>AAA	p.R1713K	ANKHD1_uc003lfr.2_Missense_Mutation_p.R1713K|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R452K|ANKHD1_uc003lfw.2_Missense_Mutation_p.R351K|ANKHD1_uc010jfl.2_Missense_Mutation_p.R148K|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1713						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGGGAAGAGGAGGATGC	0.378		NaN											0	0	0	1	0	7	29				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907514	139907514	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907514G>T	uc003lfs.1	+	28	5268	c.5144G>T	c.(5143-5145)GGA>GTA	p.G1715V	ANKHD1_uc003lfr.2_Missense_Mutation_p.G1715V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G454V|ANKHD1_uc003lfw.2_Missense_Mutation_p.G353V|ANKHD1_uc010jfl.2_Missense_Mutation_p.G150V|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1715						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGGAGGATGCAACATC	0.378		NaN											1	0	0.000274275	1	0.00027772	8	29				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928595	139928595	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139928595C>G	uc003lfs.1	+	35	7908	c.7784C>G	c.(7783-7785)TCC>TGC	p.S2595C	ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1351C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S740C|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.P70A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2595						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACAACTCCTCCAACAGC	0.567		NaN											0	0	0	1	0	9	41				
PCDHA1	56147	broad.mit.edu	37	5	140166574	140166574	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140166574C>T	uc003lhb.2	+	1	699	c.699C>T	c.(697-699)CTC>CTT	p.L233L	PCDHA1_uc003lha.2_Silent_p.L233L|PCDHA1_uc003lgz.2_Silent_p.L233L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	233	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTCCTCGACGTTAATG	0.473		NaN											0	0	0	1	0	27	89				
PCDHA1	56147	broad.mit.edu	37	5	140168060	140168060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140168060G>A	uc003lhb.2	+	1	2185	c.2185G>A	c.(2185-2187)GAG>AAG	p.E729K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E729K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	729	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTGAGGGTGCGTA	0.642		NaN											0	0	0	1	0	24	75				
PCDHA4	56144	broad.mit.edu	37	5	140188377	140188377	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140188377G>T	uc003lhi.2	+	1	1706	c.1605G>T	c.(1603-1605)GTG>GTT	p.V535V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V535V|PCDHA4_uc011daa.1_Silent_p.V535V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	535	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCAGGTGACCGCTCGCG	0.652		NaN											1	0	2.66076e-39	1	2.84745e-39	59	106				
PCDHA8	56140	broad.mit.edu	37	5	140220969	140220969	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140220969C>G	uc003lhs.2	+	1	63	c.63C>G	c.(61-63)CTC>CTG	p.L21L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L21L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	21					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGA	0.567		NaN											0	0	0	1	0	50	117				
PCDHA11	56138	broad.mit.edu	37	5	140248873	140248873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140248873G>A	uc003lia.2	+	1	1043	c.185G>A	c.(184-186)CGC>CAC	p.R62H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R62H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCAGCGCCTGTTCCGG	0.617		NaN											0	0	0	1	0	65	257				
PCDHA13	56136	broad.mit.edu	37	5	140262519	140262519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140262519G>A	uc003lif.2	+	1	666	c.666G>A	c.(664-666)CTG>CTA	p.L222L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L222L|PCDHA13_uc003lid.2_Silent_p.L222L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCGAGCTGACTGGCACAG	0.453		NaN											0	0	0	1	0	18	70				
PCDHB8	56128	broad.mit.edu	37	5	140559962	140559962	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140559962G>C	uc011dai.1	+	1	2533	c.2347G>C	c.(2347-2349)GAA>CAA	p.E783Q	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGGGCCAGAAATGGAACA	0.378		NaN											0	0	0	1	0	21	98				
PCDHB15	56121	broad.mit.edu	37	5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140625700G>C	uc003lje.2	+	1	554	c.554G>C	c.(553-555)CGA>CCA	p.R185P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	185	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517		NaN											0	0	0	1	0	27	62				
PCDHGC3	5098	broad.mit.edu	37	5	140857358	140857358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140857358G>A	uc003lkv.1	+	1	1790	c.1675G>A	c.(1675-1677)GAT>AAT	p.D559N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D559N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	559	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTCACTGATCGCAATGA	0.557		NaN									OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	80				
SH3RF2	153769	broad.mit.edu	37	5	145393552	145393552	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145393552C>T	uc003lnt.2	+	5	1225	c.987C>T	c.(985-987)ATC>ATT	p.I329I	SH3RF2_uc011dbl.1_Silent_p.I329I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTCATCAGCTCCAGCA	0.562		NaN											0	0	0	1	0	47	142				
PPP2R2B	5521	broad.mit.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145969658A>C	uc003loe.2	-	9	1709	c.1184T>G	c.(1183-1185)GTG>GGG	p.V395G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	395					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(1)		ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488		NaN											0	0	0	1	0	37	133				
ADRB2	154	broad.mit.edu	37	5	148206577	148206577	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:148206577C>T	uc003lpr.1	+	1	422	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	61	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TTGCCAAGTTCGAGCGTCTGC	0.582		NaN											0	0	0	1	0	24	75				
PDE6A	5145	broad.mit.edu	37	5	149264428	149264428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149264428G>C	uc003lrg.3	-	15	1961	c.1841C>G	c.(1840-1842)TCC>TGC	p.S614C		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	614					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGTTCTGGGATCTGAATGA	0.463		NaN											0	0	0	1	0	16	56				
SLC6A7	6534	broad.mit.edu	37	5	149576666	149576666	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149576666C>A	uc003lrr.2	+	4	782	c.411C>A	c.(409-411)ATC>ATA	p.I137I		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	137	Helical; Name=3; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACATGATCATCGCCTACGTGC	0.622		NaN											1	0	1.2644e-06	1	1.30368e-06	22	65				
NDST1	3340	broad.mit.edu	37	5	149932879	149932879	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149932879C>G	uc003lsk.3	+	15	3136	c.2634C>G	c.(2632-2634)CTC>CTG	p.L878L	NDST1_uc011dcj.1_Silent_p.L821L	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	878	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGACCTCCAGAACACCA	0.567		NaN											0	0	0	1	0	66	375				
ANXA6	309	broad.mit.edu	37	5	150512094	150512094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:150512094C>T	uc003ltl.1	-	10	831	c.679G>A	c.(679-681)GAA>AAA	p.E227K	ANXA6_uc011dcp.1_Missense_Mutation_p.E195K|ANXA6_uc003ltm.1_Missense_Mutation_p.E227K|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	227	Annexin 3.			IE -> MK (in Ref. 2; AAA35656).		melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGGCTTCAATCGGCTTC	0.542		NaN											0	0	0	1	0	10	26				
LARP1	23367	broad.mit.edu	37	5	154181594	154181594	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:154181594C>G	uc003lvp.2	+	11	2173	c.1744C>G	c.(1744-1746)CTG>GTG	p.L582V	LARP1_uc003lvo.2_Missense_Mutation_p.L505V|LARP1_uc010jie.1_Missense_Mutation_p.L377V	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	582							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTTCCCACCTGACCTCTCT	0.498		NaN											0	0	0	1	0	16	62				
ATP10B	23120	broad.mit.edu	37	5	159992533	159992533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:159992533C>G	uc003lym.1	-	26	5160	c.4313G>C	c.(4312-4314)AGA>ACA	p.R1438T	ATP10B_uc010jit.1_Missense_Mutation_p.R688T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1438	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTGTCCTCTTGAGTAGGC	0.537		NaN											0	0	0	1	0	47	116				
SLIT3	6586	broad.mit.edu	37	5	168175380	168175380	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:168175380C>G	uc003mab.2	-	20	2617	c.2197G>C	c.(2197-2199)GAG>CAG	p.E733Q	SLIT3_uc010jjg.2_Missense_Mutation_p.E733Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	733	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACTGTCTCCATACAGGTG	0.632		NaN											0	0	0	1	0	28	94				
C5orf25	375484	broad.mit.edu	37	5	175772332	175772332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:175772332G>T	uc003mds.3	+	12	2910	c.2503G>T	c.(2503-2505)GAG>TAG	p.E835*	C5orf25_uc003mdt.3_Nonsense_Mutation_p.E420*|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Nonsense_Mutation_p.E296*			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	835											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GATGCTGGGGGAGCCTCTTGT	0.537		NaN											1	0	5.45024e-15	1	5.74907e-15	26	56				
SNCB	6620	broad.mit.edu	37	5	176047844	176047844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:176047844C>T	uc003mep.2	-	7	816	c.373G>A	c.(373-375)GAG>AAG	p.E125K	SNCB_uc003meq.2_Missense_Mutation_p.E125K	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	125							calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATATTCCTCCTGCATCACC	0.622		NaN											0	0	0	1	0	14	54				
MGAT1	4245	broad.mit.edu	37	5	180219580	180219580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:180219580G>A	uc003mmg.3	-	2	887	c.392C>T	c.(391-393)TCG>TTG	p.S131L	MGAT1_uc010jlf.2_Missense_Mutation_p.S131L|MGAT1_uc010jlg.2_Missense_Mutation_p.S131L|MGAT1_uc003mmh.3_Missense_Mutation_p.S131L|MGAT1_uc010jlh.2_Missense_Mutation_p.S131L|MGAT1_uc003mmi.3_Missense_Mutation_p.S131L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	131	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTCAGCCGAGGGCCGATA	0.672		NaN											0	0	0	1	0	19	65				
IRF4	3662	broad.mit.edu	37	6	397158	397158	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:397158C>T	uc003msz.3	+	5	656	c.543C>T	c.(541-543)TAC>TAT	p.Y181Y	IRF4_uc010jne.1_Silent_p.Y181Y|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.Y180Y|IRF4_uc003mtc.1_Silent_p.Y11Y	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	181					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGAGGGACTACGTCCCGGATC	0.572		NaN	T	IGH@	MM 								0	0	0	1	0	42	179				
RPP40	10799	broad.mit.edu	37	6	5002362	5002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:5002362C>T	uc003mwl.2	-	2	276	c.241G>A	c.(241-243)GAA>AAA	p.E81K	uc003mwn.1_5'Flank|RPP40_uc003mwm.2_Missense_Mutation_p.E81K	NM_006638	NP_006629	O75818	RPP40_HUMAN	ribonuclease P 40kDa subunit	81					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGATGAATTCAGGTGTAATT	0.403		NaN											0	0	0	1	0	21	103				
F13A1	2162	broad.mit.edu	37	6	6152170	6152170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:6152170G>A	uc003mwv.2	-	14	2044	c.1921C>T	c.(1921-1923)CAG>TAG	p.Q641*	F13A1_uc011dib.1_Nonsense_Mutation_p.Q578*	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	641					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAACTACCTGAGTGCCACGG	0.438		NaN											0	0	0	1	0	22	23				
SSR1	6745	broad.mit.edu	37	6	7303849	7303849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:7303849C>T	uc003mxf.3	-	3	402	c.214G>A	c.(214-216)GAT>AAT	p.D72N	SSR1_uc003mxg.3_Missense_Mutation_p.D72N|SSR1_uc010jny.2_Missense_Mutation_p.D72N	NM_003144	NP_003135	P43307	SSRA_HUMAN	signal sequence receptor, alpha precursor	72	Lumenal (Potential).				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Ovarian(93;0.0398)					CCAGACACATCTTCTTCCTCT	0.294		NaN											0	0	0	1	0	55	57				
MUTED	63915	broad.mit.edu	37	6	8041426	8041426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:8041426G>A	uc003mxy.2	-	3	309	c.271C>T	c.(271-273)CTT>TTT	p.L91F	TXNDC5_uc003mxw.2_Silent_p.L7L|MUTED_uc010joc.2_Missense_Mutation_p.L27F|MUTED_uc010job.2_RNA	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN	muted	91						BLOC-1 complex	protein binding				0	Ovarian(93;0.0398)					CATTTGGGAAGAGTATGTTCA	0.368		NaN											0	0	0	1	0	28	77				
GCM2	9247	broad.mit.edu	37	6	10874680	10874680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:10874680G>A	uc003mzn.3	-	5	1141	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	357					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TAATAAGGGCGAGTGGCCATG	0.532		NaN											0	0	0	1	0	89	78				
HIVEP1	3096	broad.mit.edu	37	6	12124515	12124515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:12124515C>G	uc003nac.2	+	4	4666	c.4487C>G	c.(4486-4488)TCA>TGA	p.S1496*	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1496					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGAAACATCAAACTCCAGC	0.448		NaN											0	0	0	1	0	21	71				
KIF13A	63971	broad.mit.edu	37	6	17781078	17781078	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:17781078G>A	uc003ncg.3	-	31	3834	c.3729C>T	c.(3727-3729)GTC>GTT	p.V1243V	KIF13A_uc003ncf.2_Silent_p.V1230V|KIF13A_uc003nch.3_Silent_p.V1243V|KIF13A_uc003nci.3_Silent_p.V1230V|KIF13A_uc003nce.1_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1243					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTGTGGTGTGACCCTATTCA	0.448		NaN											0	0	0	1	0	18	54				
DEK	7913	broad.mit.edu	37	6	18249902	18249902	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:18249902C>G	uc003ncr.1	-	7	935	c.742G>C	c.(742-744)GAT>CAT	p.D248H	DEK_uc011djf.1_Missense_Mutation_p.D214H|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	248	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTCTTTATCTTCATCATCT	0.333		NaN	T	NUP214	AML								0	0	0	1	0	7	23				
CDKAL1	54901	broad.mit.edu	37	6	21201376	21201376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:21201376G>C	uc003ndc.1	+	15	1593	c.1419G>C	c.(1417-1419)AAG>AAC	p.K473N	CDKAL1_uc003ndd.1_Missense_Mutation_p.K473N|CDKAL1_uc003nde.1_Missense_Mutation_p.K382N|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	473	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATGGGGAAGATGGTTGAAG	0.363		NaN											0	0	0	1	0	31	109				
DCDC2	51473	broad.mit.edu	37	6	24175047	24175047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:24175047G>A	uc003ndx.2	-	10	1644	c.1342C>T	c.(1342-1344)CAA>TAA	p.Q448*	DCDC2_uc003ndy.2_Nonsense_Mutation_p.Q448*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.Q199*	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	448					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GGTGGTCTTTGAGGGTCTACA	0.353		NaN											0	0	0	1	0	12	72				
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26031895G>C	uc003nfs.1	-	1	394	c.394C>G	c.(394-396)CGC>GGC	p.R132G		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CTTTCTCCGCGAATGCGGCGA	0.478		NaN											0	0	0	1	0	32	57				
HIST1H3C	8352	broad.mit.edu	37	6	26045914	26045914	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26045914G>A	uc003nfv.2	+	1	276	c.276G>A	c.(274-276)GCG>GCA	p.A92A	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CGGTGATGGCGCTGCAGGAGG	0.582		NaN											0	0	0	1	0	22	80				
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26217568G>C	uc003nha.1	+	1	421	c.366G>C	c.(364-366)GAG>GAC	p.E122D	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542		NaN											0	0	0	1	0	19	59				
HIST1H4H	8365	broad.mit.edu	37	6	26285723	26285723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26285723G>C	uc003nhm.2	-	1	5	c.5C>G	c.(4-6)TCT>TGT	p.S2C	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.S2C(1)		ovary(2)	2						ACCACGGCCAGACATGACTAA	0.473		NaN								HNSCC(76;0.23)			0	0	0	1	0	17	71				
BTN2A1	11120	broad.mit.edu	37	6	26465586	26465586	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26465586G>A	uc003nib.1	+	5	1098	c.886G>A	c.(886-888)GAA>AAA	p.E296K	BTN2A1_uc003nic.1_Missense_Mutation_p.E296K|BTN2A1_uc003nid.1_Missense_Mutation_p.E144K|BTN2A1_uc011dko.1_Missense_Mutation_p.E235K|BTN2A1_uc010jqk.1_Missense_Mutation_p.E56K	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	296	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TGCTCTAAAGGAACTGGAGAA	0.299		NaN											0	0	0	1	0	58	69				
ZNF184	7738	broad.mit.edu	37	6	27420524	27420524	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27420524G>C	uc003njj.2	-	5	1625	c.814C>G	c.(814-816)CAT>GAT	p.H272D	ZNF184_uc010jqv.2_Missense_Mutation_p.H272D|ZNF184_uc003nji.2_Missense_Mutation_p.H272D	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	272	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCAGTATGAATTCTTTGA	0.378		NaN											0	0	0	1	0	17	85				
HIST1H4L	8368	broad.mit.edu	37	6	27840978	27840978	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27840978C>A	uc003njz.2	-	1	312	c.311G>T	c.(310-312)TGA>TTA	p.*104L	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	104					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2						GTAAAACACTCAGCCGCCAAA	0.512		NaN											1	0	2.17888e-05	1	2.22085e-05	9	57				
C6orf136	221545	broad.mit.edu	37	6	30619214	30619214	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30619214C>T	uc003nqw.3	+	4	928	c.735C>T	c.(733-735)TTC>TTT	p.F245F	C6orf136_uc003nqx.3_Silent_p.F426F|C6orf136_uc011dmn.1_Silent_p.F111F	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	245											0						TTTTGCGGTTCTACAAGCGTG	0.448		NaN											0	0	0	1	0	103	366				
TNF	7124	broad.mit.edu	37	6	31544355	31544355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:31544355C>T	uc003nui.2	+	2	400	c.231C>T	c.(229-231)GTC>GTT	p.V77V	TNF_uc003nuj.2_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	tumor necrosis factor alpha	77	Extracellular (Potential).	Cleavage; by ADAM17.			activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			ovary(1)|pancreas(1)|skin(1)	3		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCCAGGCAGTCAGTAAGTGTC	0.502		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	1	0	38	112				
TNXB	7148	broad.mit.edu	37	6	32010104	32010104	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32010104G>A	uc003nzl.2	-	41	12442	c.12240C>T	c.(12238-12240)TTC>TTT	p.F4080F	TNXB_uc003nzg.1_Silent_p.F511F|TNXB_uc003nzh.1_Silent_p.F549F	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	4127	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGTCCCTCCAGAAGTCTGTCT	0.612		NaN											0	0	0	1	0	9	45				
TNXB	7148	broad.mit.edu	37	6	32021477	32021477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32021477C>T	uc003nzl.2	-	25	8675	c.8473G>A	c.(8473-8475)GAA>AAA	p.E2825K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTCTCTGCTTCATCCTCTGGA	0.587		NaN											0	0	0	1	0	16	62				
NOTCH4	4855	broad.mit.edu	37	6	32170230	32170230	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32170230C>T	uc003obb.2	-	21	3517	c.3378G>A	c.(3376-3378)CTG>CTA	p.L1126L	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1126	EGF-like 28.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CTGGTGGGGTCAGGCAGTCAG	0.642		NaN											0	0	0	1	0	5	32				
HLA-DQA2	3118	broad.mit.edu	37	6	32713004	32713004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32713004G>A	uc003obx.2	+	2	209	c.151G>A	c.(151-153)GAA>AAA	p.E51K		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	51	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTACACCCATGAATTTGATGG	0.502		NaN											0	0	0	1	0	46	143				
COL11A2	1302	broad.mit.edu	37	6	33135226	33135226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33135226G>A	uc003ocx.1	-	56	4327	c.4099C>T	c.(4099-4101)CTG>TTG	p.L1367L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1367	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						AGCCCCCTCAGACCATCAGGG	0.662		NaN											0	0	0	1	0	20	53				
COL11A2	1302	broad.mit.edu	37	6	33154506	33154506	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33154506C>T	uc003ocx.1	-	5	924	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	COL11A2_uc003ocy.1_Silent_p.Q232Q|COL11A2_uc003ocz.1_Silent_p.Q232Q|COL11A2_uc003oda.2_Silent_p.Q232Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	232	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GTCTTTCCCTCTGGCCCCCCT	0.562		NaN											0	0	0	1	0	36	122				
RXRB	6257	broad.mit.edu	37	6	33165597	33165597	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33165597C>T	uc003odb.2	-	4	941	c.762G>A	c.(760-762)CGG>CGA	p.R254R	RXRB_uc003odc.2_Silent_p.R254R|RXRB_uc003odd.2_Silent_p.R158R|RXRB_uc011dqr.1_Silent_p.R64R|RXRB_uc011dqs.1_Silent_p.R137R|RXRB_uc003ode.1_Silent_p.R118R|RXRB_uc011dqt.1_Silent_p.R254R|RXRB_uc011dqu.1_Silent_p.R158R	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	254	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACAGCGGTTCCGCTGGCGCT	0.582		NaN											0	0	0	1	0	9	48				
HSD17B8	7923	broad.mit.edu	37	6	33173242	33173242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33173242C>G	uc003odi.1	+	4	433	c.406C>G	c.(406-408)CAG>GAG	p.Q136E	uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	136					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)	CCTAGTCACTCAGGCTGCAGC	0.572		NaN											0	0	0	1	0	29	104				
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:39513460C>G	uc003oot.2	-	11	1281	c.1186G>C	c.(1186-1188)GAA>CAA	p.E396Q	KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						ATTAGTTTTTCCAGCCTAAAA	0.338		NaN											0	0	0	1	0	14	41				
PGC	5225	broad.mit.edu	37	6	41707611	41707611	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:41707611G>C	uc003ora.1	-	7	890	c.841C>G	c.(841-843)CTG>GTG	p.L281V		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	281					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAGTGAGCAGAGAGGTGCCT	0.612		NaN											0	0	0	1	0	35	87				
PEX6	5190	broad.mit.edu	37	6	42936706	42936706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42936706C>T	uc003otf.2	-	6	1478	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	462					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACTGCTAGTTCCTGTCAGCAG	0.537		NaN											0	0	0	1	0	23	73				
C6orf153	88745	broad.mit.edu	37	6	42995194	42995194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42995194C>T	uc003otp.1	+	6	630	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	208					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGGGCCATCGGCCATACTT	0.572		NaN											0	0	0	1	0	29	76				
ABCC10	89845	broad.mit.edu	37	6	43415550	43415550	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43415550C>T	uc003ouy.1	+	18	4049	c.3834C>T	c.(3832-3834)ATC>ATT	p.I1278I	ABCC10_uc003ouz.1_Silent_p.I1250I|ABCC10_uc010jyo.1_Silent_p.I384I	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1278	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTGGGCATCGTGGGCCGCA	0.642		NaN											0	0	0	1	0	70	211				
XPO5	57510	broad.mit.edu	37	6	43495465	43495465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43495465C>T	uc003ovp.2	-	26	3038	c.2827G>A	c.(2827-2829)GAA>AAA	p.E943K	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	943					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCTCATCTTCTCCACTGCAG	0.498		NaN											0	0	0	1	0	18	50				
POLH	5429	broad.mit.edu	37	6	43578408	43578408	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43578408G>T	uc003ovq.3	+	10	1496	c.1192G>T	c.(1192-1194)GAT>TAT	p.D398Y	POLH_uc010jyu.2_Missense_Mutation_p.D274Y|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.D299Y	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	398					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GATGAGCCATGATGCATTTAC	0.468		NaN						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				1	0	2.4624e-09	1	2.56544e-09	19	44				
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43591732G>T	uc003ovs.2	-	8	1211	c.1174C>A	c.(1174-1176)CTG>ATG	p.L392M	GTPBP2_uc010jyv.2_Missense_Mutation_p.L304M|GTPBP2_uc003ovt.1_Missense_Mutation_p.L392M	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	392							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512		NaN											1	0	2.61193e-14	1	2.75343e-14	31	86				
TMEM63B	55362	broad.mit.edu	37	6	44104156	44104156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44104156G>C	uc003owr.2	+	5	413	c.349G>C	c.(349-351)GAC>CAC	p.D117H	TMEM63B_uc003owq.1_Missense_Mutation_p.D117H|TMEM63B_uc010jyy.1_Missense_Mutation_p.D20H|TMEM63B_uc003ows.2_Missense_Mutation_p.D20H	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	117						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCTCCGTTGACTTTGACCA	0.577		NaN											0	0	0	1	0	18	54				
TMEM63B	55362	broad.mit.edu	37	6	44107235	44107235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44107235G>A	uc003owr.2	+	7	503	c.439G>A	c.(439-441)GAT>AAT	p.D147N	TMEM63B_uc003owq.1_Missense_Mutation_p.D147N|TMEM63B_uc010jyy.1_Missense_Mutation_p.D50N|TMEM63B_uc003ows.2_Missense_Mutation_p.D50N|TMEM63B_uc010jyz.2_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	147						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATGTGGGGGCGATGCCGTGCA	0.582		NaN											0	0	0	1	0	21	73				
TNFRSF21	27242	broad.mit.edu	37	6	47254118	47254118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:47254118C>G	uc003oyv.2	-	2	743	c.310G>C	c.(310-312)GAG>CAG	p.E104Q		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	104	TNFR-Cys 2.|Extracellular (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			TGGCATTTCTCTATGCCATTC	0.522		NaN											0	0	0	1	0	46	124				
HMGCLL1	54511	broad.mit.edu	37	6	55406893	55406893	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:55406893C>G	uc003pcn.2	-	3	403	c.244G>C	c.(244-246)GAA>CAA	p.E82Q	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52Q|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52Q|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52Q	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCCCAACTTCTACTATTTTA	0.318		NaN											0	0	0	1	0	4	25				
DST	667	broad.mit.edu	37	6	56507261	56507261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:56507261C>T	uc003pdf.2	-	15	1748	c.1720G>A	c.(1720-1722)GAC>AAC	p.D574N	DST_uc003pcz.3_Missense_Mutation_p.D396N|DST_uc011dxj.1_Missense_Mutation_p.D425N|DST_uc011dxk.1_Missense_Mutation_p.D436N|DST_uc011dxl.1_Missense_Mutation_p.D425N|DST_uc003pcy.3_Missense_Mutation_p.D70N|DST_uc003pdb.2_Missense_Mutation_p.D70N|DST_uc003pdc.3_Missense_Mutation_p.D70N|DST_uc003pdd.3_Missense_Mutation_p.D70N|DST_uc003pde.2_Missense_Mutation_p.D512N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	396					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGACACTGTCCCTCTGAACT	0.403		NaN											0	0	0	1	0	11	58				
PHF3	23469	broad.mit.edu	37	6	64389966	64389966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389966G>A	uc003pep.1	+	2	336	c.310G>A	c.(310-312)GAA>AAA	p.E104K	PHF3_uc010kaf.1_Missense_Mutation_p.E104K|PHF3_uc003pem.2_Missense_Mutation_p.E57K|PHF3_uc010kag.1_Missense_Mutation_p.E16K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E16K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E104K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	104					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCATTGATGAAGAAGAACT	0.333		NaN											0	0	0	1	0	15	74				
PHF3	23469	broad.mit.edu	37	6	64389977	64389977	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389977G>C	uc003pep.1	+	2	347	c.321G>C	c.(319-321)CTG>CTC	p.L107L	PHF3_uc010kaf.1_Silent_p.L107L|PHF3_uc003pem.2_Silent_p.L60L|PHF3_uc010kag.1_Silent_p.L19L|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Silent_p.L19L|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Silent_p.L107L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	107					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGAACTGATTTTACCTA	0.353		NaN											0	0	0	1	0	16	77				
BAI3	577	broad.mit.edu	37	6	69653779	69653779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:69653779G>C	uc003pev.3	+	6	1536	c.1088G>C	c.(1087-1089)CGA>CCA	p.R363P	BAI3_uc010kak.2_Missense_Mutation_p.R363P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	363	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ACATGTGGTCGAGGCCAAAGA	0.438		NaN											0	0	0	1	0	22	68				
LMBRD1	55788	broad.mit.edu	37	6	70411792	70411792	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70411792G>A	uc003pfa.2	-	10	1084	c.969C>T	c.(967-969)CTC>CTT	p.L323L	LMBRD1_uc003pey.2_Silent_p.L119L|LMBRD1_uc003pez.2_Silent_p.L250L|LMBRD1_uc010kal.2_Silent_p.L250L|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	323	Helical; Name=6; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TTGACAAGAAGAGAGAAATTA	0.289		NaN											0	0	0	1	0	9	26				
COL19A1	1310	broad.mit.edu	37	6	70639408	70639408	+	Missense_Mutation	SNP	G	G	C	rs151153446	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70639408G>C	uc003pfc.1	+	6	599	c.482G>C	c.(481-483)CGA>CCA	p.R161P	COL19A1_uc010kam.1_Missense_Mutation_p.R57P	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	161	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTTAGAAATCGAGAACTCCGT	0.378		NaN											0	0	0	1	0	19	65				
RIMS1	22999	broad.mit.edu	37	6	72957812	72957812	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:72957812C>T	uc003pga.2	+	12	2300	c.2223C>T	c.(2221-2223)GTC>GTT	p.V741V	RIMS1_uc011dyb.1_Silent_p.V367V|RIMS1_uc003pgc.2_Silent_p.V367V|RIMS1_uc010kaq.2_Silent_p.V215V|RIMS1_uc011dyc.1_Silent_p.V215V|RIMS1_uc010kar.2_Silent_p.V134V|RIMS1_uc011dyd.1_Silent_p.V200V|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.V367V|RIMS1_uc010kas.1_Silent_p.V200V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	741					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCACAAGTCTTACCAGGGC	0.398		NaN											0	0	0	1	0	13	43				
SLC17A5	26503	broad.mit.edu	37	6	74363522	74363522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:74363522C>T	uc003phn.3	-	1	216	c.88G>A	c.(88-90)GAA>AAA	p.E30K	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	30					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						TTACCGGCTTCGGCCCGTGGG	0.726		NaN											0	0	0	1	0	4	9				
FILIP1	27145	broad.mit.edu	37	6	76023801	76023801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76023801C>T	uc003pia.2	-	5	2120	c.1747G>A	c.(1747-1749)GAA>AAA	p.E583K	FILIP1_uc003phy.1_Missense_Mutation_p.E583K|FILIP1_uc003phz.2_Missense_Mutation_p.E484K|FILIP1_uc010kbe.2_Missense_Mutation_p.E586K|FILIP1_uc003pib.1_Missense_Mutation_p.E335K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	583	Potential.									skin(3)|ovary(1)	4						GATTTTTCTTCTTCACTTTTC	0.338		NaN											0	0	0	1	0	23	50				
FILIP1	27145	broad.mit.edu	37	6	76063265	76063265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76063265C>G	uc003pia.2	-	4	992	c.619G>C	c.(619-621)GAG>CAG	p.E207Q	FILIP1_uc003phy.1_Missense_Mutation_p.E207Q|FILIP1_uc003phz.2_Missense_Mutation_p.E108Q|FILIP1_uc010kbe.2_Missense_Mutation_p.E210Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	207	Potential.									skin(3)|ovary(1)	4						CTCTCCCGCTCCTGCTCCAGC	0.527		NaN											0	0	0	1	0	42	151				
FILIP1	27145	broad.mit.edu	37	6	76124427	76124427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76124427C>A	uc003pia.2	-	2	635	c.262G>T	c.(262-264)GAA>TAA	p.E88*	FILIP1_uc003phy.1_Nonsense_Mutation_p.E88*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E91*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	88				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						skin(3)|ovary(1)	4						AACTCCCCTTCCATTATACTG	0.338		NaN											1	0	4.10826e-27	1	4.38543e-27	47	145				
FAM46A	55603	broad.mit.edu	37	6	82461733	82461733	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:82461733G>A	uc003pjg.2	-	2	444	c.126C>T	c.(124-126)TTC>TTT	p.F42F	FAM46A_uc003pjf.2_Silent_p.F61F|FAM46A_uc003pjh.1_Silent_p.F42F	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	42	4.		Missing.								0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgccaccgccgaagtcgccgc	0.388		NaN											0	0	0	1	0	20	32				
TPBG	7162	broad.mit.edu	37	6	83075366	83075366	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:83075366C>G	uc003pjn.3	+	3	1624	c.688C>G	c.(688-690)CTG>GTG	p.L230V	TPBG_uc010kbj.2_Missense_Mutation_p.L230V|TPBG_uc003pjo.2_Missense_Mutation_p.L230V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	230	Extracellular (Potential).|LRR 4.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGGGATGTGCTGGCCCAACT	0.627		NaN											0	0	0	1	0	42	128				
PREP	5550	broad.mit.edu	37	6	105800901	105800901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:105800901G>A	uc003prc.2	-	7	972	c.769C>T	c.(769-771)CCA>TCA	p.P257S		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	257					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGTTTACTGGATCACATCCT	0.378		NaN											0	0	0	1	0	35	124				
MICAL1	64780	broad.mit.edu	37	6	109771587	109771587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:109771587C>G	uc003ptj.2	-	7	1361	c.1107G>C	c.(1105-1107)ATG>ATC	p.M369I	MICAL1_uc003ptk.2_Missense_Mutation_p.M369I|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.M388I	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	369					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGCCCGCATCATGCTCGTGA	0.607		NaN											0	0	0	1	0	30	83				
CDC40	51362	broad.mit.edu	37	6	110531931	110531931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:110531931G>A	uc003pua.2	+	6	676	c.652G>A	c.(652-654)GAA>AAA	p.E218K		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	218					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGAATTGGATGAAATCACAGC	0.318		NaN											0	0	0	1	0	8	10				
CDK19	23097	broad.mit.edu	37	6	111136325	111136325	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111136325G>A	uc003puh.1	-	1	88	c.15C>T	c.(13-15)TTC>TTT	p.F5F	AMD1_uc011eay.1_Intron|CDK19_uc003pui.1_Intron|uc003puj.1_5'Flank|CDK19_uc010kdv.1_RNA	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	5							ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTTCGCCTTGAAATCATAAT	0.652		NaN											0	0	0	1	0	20	49				
REV3L	5980	broad.mit.edu	37	6	111632423	111632423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111632423C>G	uc003puy.3	-	29	8967	c.8644G>C	c.(8644-8646)GAT>CAT	p.D2882H	REV3L_uc003pux.3_Missense_Mutation_p.D2804H|REV3L_uc003puz.3_Missense_Mutation_p.D2804H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2882					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACTTATATCTCTCGTTTCA	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	30	89				
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	G	rs143103700	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:112671523C>G	uc003pvx.1	+	3	925	c.613C>G	c.(613-615)CGC>GGC	p.R205G		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448		NaN											0	0	0	1	0	21	50				
HS3ST5	222537	broad.mit.edu	37	6	114379227	114379227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:114379227C>G	uc003pwg.3	-	2	267	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E79Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	79	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597		NaN											0	0	0	1	0	14	69				
MAN1A1	4121	broad.mit.edu	37	6	119669725	119669725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:119669725C>G	uc003pym.1	-	2	948	c.506G>C	c.(505-507)AGA>ACA	p.R169T	MAN1A1_uc010kei.1_Missense_Mutation_p.R169T	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	169	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCAGGCCTCTGAACGGCGC	0.632		NaN											0	0	0	1	0	28	99				
C6orf174	387104	broad.mit.edu	37	6	127796494	127796494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:127796494C>G	uc003qbd.2	-	6	3542	c.2677G>C	c.(2677-2679)GAG>CAG	p.E893Q	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	893						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TTGGGCACCTCGAGGCGGTCG	0.657		NaN											0	0	0	1	0	39	124				
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:129636636G>A	uc003qbn.2	+	25	3676	c.3571G>A	c.(3571-3573)GAG>AAG	p.E1191K	LAMA2_uc003qbo.2_Missense_Mutation_p.E1191K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1191	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463		NaN											0	0	0	1	0	22	71				
SAMD3	154075	broad.mit.edu	37	6	130535486	130535486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:130535486G>C	uc003qbv.2	-	5	591	c.265C>G	c.(265-267)CGA>GGA	p.R89G	SAMD3_uc003qbx.2_Missense_Mutation_p.R89G|SAMD3_uc003qbw.2_Missense_Mutation_p.R89G|SAMD3_uc010kfg.1_Missense_Mutation_p.R89G|SAMD3_uc003qby.2_Missense_Mutation_p.R89G|SAMD3_uc003qbz.1_Missense_Mutation_p.R48G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	89										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTCACTCTCGAGCTGCTTCT	0.423		NaN											0	0	0	1	0	34	121				
SLC2A12	154091	broad.mit.edu	37	6	134350213	134350213	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:134350213G>C	uc003qem.1	-	2	921	c.750C>G	c.(748-750)CTC>CTG	p.L250L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	250	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGATCACAGTGAGTTCCTCAG	0.443		NaN											0	0	0	1	0	18	67				
MAP7	9053	broad.mit.edu	37	6	136683622	136683622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:136683622C>G	uc003qgz.2	-	11	1738	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	MAP7_uc011edf.1_Missense_Mutation_p.E483Q|MAP7_uc011edg.1_Missense_Mutation_p.E528Q|MAP7_uc010kgu.2_Missense_Mutation_p.E520Q|MAP7_uc011edh.1_Missense_Mutation_p.E483Q|MAP7_uc010kgv.2_Missense_Mutation_p.E520Q|MAP7_uc010kgs.2_Missense_Mutation_p.E352Q|MAP7_uc011edi.1_Missense_Mutation_p.E352Q|MAP7_uc010kgq.1_Missense_Mutation_p.E404Q|MAP7_uc003qha.1_Missense_Mutation_p.E461Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	498	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCCTTTCTTCCTTTTCT	0.527		NaN											0	0	0	1	0	47	150				
HECA	51696	broad.mit.edu	37	6	139487792	139487792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:139487792C>T	uc003qin.2	+	2	928	c.643C>T	c.(643-645)CCT>TCT	p.P215S		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	215					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGGGAGGCCTCCTGGTGAGGC	0.597		NaN											0	0	0	1	0	14	48				
SHPRH	257218	broad.mit.edu	37	6	146275900	146275900	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:146275900C>G	uc003qlf.2	-	2	958	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	SHPRH_uc003qld.2_Missense_Mutation_p.E187Q|SHPRH_uc003qle.2_Missense_Mutation_p.E187Q|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E76Q|SHPRH_uc003qlk.1_Missense_Mutation_p.E187Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	187					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCCAAATCTTCTAACATTTCA	0.363		NaN											0	0	0	1	0	15	70				
SLC22A3	6581	broad.mit.edu	37	6	160769463	160769463	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:160769463C>G	uc003qti.2	+	1	39	c.12C>G	c.(10-12)TTC>TTG	p.F4L	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	4						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TGCCCTCCTTCGACGAGGCGC	0.577		NaN											0	0	0	1	0	12	33				
LPA	4018	broad.mit.edu	37	6	161015047	161015047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:161015047G>A	uc003qtl.2	-	23	3692	c.3572C>T	c.(3571-3573)TCT>TTT	p.S1191F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3699	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAGGACCAAGACTGACATGT	0.498		NaN											0	0	0	1	0	34	84				
TTLL2	83887	broad.mit.edu	37	6	167754887	167754887	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:167754887C>G	uc003qvs.1	+	3	1587	c.1499C>G	c.(1498-1500)TCA>TGA	p.S500*	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	500					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTCATCTGTCAACAAGGGAG	0.567		NaN											0	0	0	1	0	18	91				
GET4	51608	broad.mit.edu	37	7	926275	926275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:926275G>A	uc003sjl.1	+	3	396	c.304G>A	c.(304-306)GAC>AAC	p.D102N	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	102					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						GGAGGTGGCTGACGAGCTGCT	0.607		NaN											0	0	0	1	0	30	76				
RBAK	57786	broad.mit.edu	37	7	5104113	5104113	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104113G>C	uc010kss.1	+	6	1350	c.1026G>C	c.(1024-1026)GAG>GAC	p.E342D	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E342D	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	342					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAGGAGAGAAACCCTACG	0.443		NaN											0	0	0	1	0	40	104				
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104735G>C	uc010kss.1	+	6	1972	c.1648G>C	c.(1648-1650)GAG>CAG	p.E550Q	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E550Q	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	550	Interaction with AR.|C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388		NaN											0	0	0	1	0	15	44				
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5567464G>C	uc003sos.3	-	5	1079	c.1043C>G	c.(1042-1044)TCG>TGG	p.S348W	ACTB_uc003sor.3_Missense_Mutation_p.S226W|ACTB_uc003sot.3_Missense_Mutation_p.S348W|ACTB_uc003soq.3_Missense_Mutation_p.S226W|ACTB_uc010ksy.2_Missense_Mutation_p.S226W	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587		NaN											0	0	0	1	0	34	137				
USP42	84132	broad.mit.edu	37	7	6193699	6193699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6193699G>A	uc011jwo.1	+	15	2637	c.2514G>A	c.(2512-2514)ATG>ATA	p.M838I	USP42_uc011jwp.1_Missense_Mutation_p.M838I|USP42_uc011jwq.1_Missense_Mutation_p.M645I|USP42_uc011jwr.1_Missense_Mutation_p.M683I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	838	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAAAGGGGATGATCGCGGAGG	0.701		NaN											0	0	0	1	0	32	94				
ZNF12	7559	broad.mit.edu	37	7	6731839	6731839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731839C>G	uc003sqt.1	-	5	1288	c.734G>C	c.(733-735)GGA>GCA	p.G245A	ZNF12_uc011jxa.1_Missense_Mutation_p.G83A|ZNF12_uc003sqs.1_Missense_Mutation_p.G207A	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	245					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATTTCAGATCCATTCCACTT	0.393		NaN											0	0	0	1	0	11	32				
ZNF12	7559	broad.mit.edu	37	7	6731904	6731904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731904C>G	uc003sqt.1	-	5	1223	c.669G>C	c.(667-669)CAG>CAC	p.Q223H	ZNF12_uc011jxa.1_Missense_Mutation_p.Q61H|ZNF12_uc003sqs.1_Missense_Mutation_p.Q185H	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	223					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGAAGGCTTTCTGGCATTCAA	0.348		NaN											0	0	0	1	0	3	26				
SNX13	23161	broad.mit.edu	37	7	17931249	17931249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:17931249C>T	uc003stw.1	-	4	451	c.238G>A	c.(238-240)GAA>AAA	p.E80K	SNX13_uc003stv.2_Missense_Mutation_p.E80K|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_5'UTR|SNX13_uc003sty.2_Missense_Mutation_p.E80K			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	80					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CGTTTCATTTCTTCTAAGCAC	0.368		NaN											0	0	0	1	0	5	21				
DNAH11	8701	broad.mit.edu	37	7	21640356	21640356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21640356G>A	uc003svc.2	+	16	3094	c.3063G>A	c.(3061-3063)GTG>GTA	p.V1021V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1021	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACAGAGTGGTGAATGTCATCA	0.428		NaN							Kartagener_syndrome				0	0	0	1	0	47	145				
DNAH11	8701	broad.mit.edu	37	7	21856220	21856220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21856220G>A	uc003svc.2	+	65	10520	c.10489G>A	c.(10489-10491)GAG>AAG	p.E3497K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3497	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACACACTGTGAGCGCTGGCC	0.488		NaN							Kartagener_syndrome				0	0	0	1	0	9	27				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236541	26236541	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26236541C>G	uc003sxr.3	-	5	613	c.397G>C	c.(397-399)GAG>CAG	p.E133Q	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E121Q	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	133	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCATATTCCTCAAAGTAATCT	0.383		NaN	T	ETV1	prostate								0	0	0	1	0	43	90				
HNRNPA2B1	3181	broad.mit.edu	37	7	26240221	26240221	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26240221G>C	uc003sxr.3	-	1	193	c.-23C>G	c.(-25--21)ATCGG>ATGGG		HNRNPA2B1_uc003sxs.3_Translation_Start_Site|CBX3_uc003sxt.2_5'Flank|CBX3_uc003sxu.2_5'Flank|CBX3_uc003sxv.2_5'Flank	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCTTCAGCCCGATTTCCCGCA	0.577		NaN	T	ETV1	prostate								0	0	0	1	0	48	166				
CHN2	1124	broad.mit.edu	37	7	29440222	29440222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:29440222G>C	uc003szz.2	+	6	791	c.354G>C	c.(352-354)AAG>AAC	p.K118N	CHN2_uc011jzs.1_Missense_Mutation_p.K193N|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.K83N|CHN2_uc011jzt.1_Missense_Mutation_p.K131N|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.K103N	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	118	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						TGGGTGAGAAGAGGTTTGAGT	0.448		NaN											0	0	0	1	0	24	65				
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31013635C>T	uc003tbx.2	+	7	681	c.633C>T	c.(631-633)TTC>TTT	p.F211F	GHRHR_uc003tbw.1_Silent_p.F211F|GHRHR_uc003tby.2_Silent_p.F147F|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	211	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	CCTCCCATTTCGCCACCATGA	0.627		NaN											0	0	0	1	0	40	85				
ADCYAP1R1	117	broad.mit.edu	37	7	31126105	31126105	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31126105C>T	uc003tca.1	+	10	1000	c.777C>T	c.(775-777)TTC>TTT	p.F259F	ADCYAP1R1_uc003tcb.1_Silent_p.F238F|ADCYAP1R1_uc003tcc.1_Silent_p.F259F|ADCYAP1R1_uc003tcd.1_Silent_p.F259F|ADCYAP1R1_uc003tce.1_Silent_p.F259F|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	259	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TGGAGACCTTCTTCCCTGAAA	0.532		NaN											0	0	0	1	0	9	48				
KBTBD2	25948	broad.mit.edu	37	7	32914744	32914744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:32914744C>T	uc003tdb.2	-	3	855	c.196G>A	c.(196-198)GAA>AAA	p.E66K	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	66	BTB.										0			GBM - Glioblastoma multiforme(11;0.0499)			TGTTTGCTTTCACTTAGTCCA	0.393		NaN											0	0	0	1	0	35	142				
ELMO1	9844	broad.mit.edu	37	7	37298857	37298857	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:37298857G>A	uc003tfk.1	-	6	649	c.342C>T	c.(340-342)GTC>GTT	p.V114V	ELMO1_uc011kbc.1_Silent_p.V18V|ELMO1_uc010kxg.1_Silent_p.V114V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	114					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GGGCAAACGTGACATCCCGGG	0.547		NaN											0	0	0	1	0	11	40				
CAMK2B	816	broad.mit.edu	37	7	44364973	44364973	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44364973G>C	uc003tkq.2	-	1	258	c.48C>G	c.(46-48)CTC>CTG	p.L16L	CAMK2B_uc003tkp.2_Silent_p.L16L|CAMK2B_uc003tkx.2_Silent_p.L16L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.L16L|CAMK2B_uc003tks.2_Silent_p.L16L|CAMK2B_uc003tku.2_Silent_p.L16L|CAMK2B_uc003tkv.2_Silent_p.L16L|CAMK2B_uc003tkt.2_Silent_p.L16L|CAMK2B_uc003tkw.2_Silent_p.L16L|CAMK2B_uc010kyc.2_Silent_p.L16L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	16	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TATCCTCGTAGAGCTGGTACT	0.756		NaN											0	0	0	1	0	6	10				
NPC1L1	29881	broad.mit.edu	37	7	44576463	44576463	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44576463G>T	uc003tlb.2	-	3	1715	c.1659C>A	c.(1657-1659)TTC>TTA	p.F553L	NPC1L1_uc003tlc.2_Missense_Mutation_p.F553L|NPC1L1_uc011kbw.1_Missense_Mutation_p.F553L|NPC1L1_uc003tld.2_Missense_Mutation_p.F553L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	553	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CAATGGCAAGGAAGGGGAAGA	0.597		NaN											1	0	1.9806e-07	1	2.0496e-07	23	62				
ABCA13	154664	broad.mit.edu	37	7	48273724	48273724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:48273724G>A	uc003toq.2	+	8	898	c.873G>A	c.(871-873)CTG>CTA	p.L291L	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	291					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AACAGATCCTGAACTCTTCAG	0.502		NaN											0	0	0	1	0	26	78				
EGFR	1956	broad.mit.edu	37	7	55270282	55270282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:55270282G>A	uc003tqk.2	+	27	3481	c.3235G>A	c.(3235-3237)GAG>AAG	p.E1079K	EGFR_uc010kzg.1_Missense_Mutation_p.E1034K|EGFR_uc011kco.1_Missense_Mutation_p.E1026K	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1079	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCCTTGACTGAGGACAGCAT	0.567		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	1	0	8	18				
ZNF107	51427	broad.mit.edu	37	7	64168318	64168318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:64168318C>T	uc003ttd.2	+	7	2422	c.1636C>T	c.(1636-1638)CAT>TAT	p.H546Y	ZNF107_uc003tte.2_Missense_Mutation_p.H546Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	546	C2H2-type 17; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAAATTATTCATACTGGAGA	0.348		NaN											0	0	0	1	0	11	35				
SBDS	51119	broad.mit.edu	37	7	66453431	66453431	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:66453431T>C	uc003tvm.1	-	5	864	c.680A>G	c.(679-681)GAA>GGA	p.E227G		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	227					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						GCCTTTAGTTTCCTTTTTTAT	0.388		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	1	0	16	48				
CACNA2D1	781	broad.mit.edu	37	7	81600022	81600022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:81600022C>G	uc003uhr.1	-	27	2429	c.2173G>C	c.(2173-2175)GAT>CAT	p.D725H	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	737	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCCCACCATCAGTCACAACA	0.353		NaN											0	0	0	1	0	12	73				
STEAP1	26872	broad.mit.edu	37	7	89790200	89790200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:89790200G>C	uc003ujx.2	+	3	366	c.166G>C	c.(166-168)GAC>CAC	p.D56H	STEAP1_uc010lem.2_Missense_Mutation_p.D56H	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	56					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TGATGAATTTGACTGCCCTTC	0.423		NaN											0	0	0	1	0	40	155				
SAMD9	54809	broad.mit.edu	37	7	92732279	92732279	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:92732279T>A	uc003umf.2	-	3	3388	c.3132A>T	c.(3130-3132)GAA>GAT	p.E1044D	SAMD9_uc003umg.2_Missense_Mutation_p.E1044D	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1044						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTTCACCTTCATGTTCAT	0.378		NaN											0	0	0	1	0	19	35				
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:93516176G>A	uc003umy.1	-	5	739	c.664C>T	c.(664-666)CGC>TGC	p.R222C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328		NaN											0	0	0	1	0	11	52				
PEG10	23089	broad.mit.edu	37	7	94293511	94293511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94293511C>T	uc011kie.1	+	2	1088	c.871C>T	c.(871-873)CAG>TAG	p.Q291*		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	215	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGACCACATTCAGGAGGAGCT	0.582		NaN											0	0	0	1	0	38	131				
PON1	5444	broad.mit.edu	37	7	94935662	94935662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94935662C>G	uc003uns.2	-	7	812	c.715G>C	c.(715-717)GAG>CAG	p.E239Q	PON1_uc011kih.1_Missense_Mutation_p.E239Q	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	239					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCCAGCAACTCAGCTATATAG	0.353		NaN											0	0	0	1	0	20	64				
TRRAP	8295	broad.mit.edu	37	7	98533223	98533223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:98533223G>A	uc003upp.2	+	28	4245	c.4036G>A	c.(4036-4038)GAA>AAA	p.E1346K	TRRAP_uc011kis.1_Missense_Mutation_p.E1346K|TRRAP_uc003upr.2_Missense_Mutation_p.E1038K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTGAGGCTGAAGATTCAGC	0.388		NaN											0	0	0	1	0	7	30				
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	T	rs139029496		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99002548C>T	uc003uqe.2	-	2	163	c.42G>A	c.(40-42)GCG>GCA	p.A14A		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632		NaN											0	0	0	1	0	15	62				
BUD31	8896	broad.mit.edu	37	7	99013816	99013816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99013816C>G	uc003uqf.2	+	4	351	c.150C>G	c.(148-150)TTC>TTG	p.F50L	BUD31_uc011kiu.1_Missense_Mutation_p.F50L|BUD31_uc011kiv.1_Missense_Mutation_p.F50L|BUD31_uc003uqg.3_Missense_Mutation_p.F50L	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	50					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCATCTTCAGGATCCACC	0.493		NaN											0	0	0	1	0	30	79				
CPSF4	10898	broad.mit.edu	37	7	99050001	99050001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99050001G>C	uc003uqj.2	+	6	651	c.508G>C	c.(508-510)GAA>CAA	p.E170Q	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.E170Q|CPSF4_uc003uqk.2_Missense_Mutation_p.E170Q|CPSF4_uc011kix.1_Missense_Mutation_p.E117Q	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	170					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCTCGATTTGAACTGCCCAT	0.592		NaN											0	0	0	1	0	71	243				
CYP3A43	64816	broad.mit.edu	37	7	99453289	99453289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99453289T>A	uc003urx.1	+	8	849	c.746T>A	c.(745-747)TTA>TAA	p.L249*	CYP3A43_uc003ury.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.L139*|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	249			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCCATTTTTTAAAAAATTCC	0.244		NaN											0	0	0	1	0	7	17				
PILRB	29990	broad.mit.edu	37	7	99957061	99957061	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99957061C>T	uc003uuk.2	+	17	3052	c.556C>T	c.(556-558)CTG>TTG	p.L186L	PILRB_uc003uul.2_Missense_Mutation_p.S116F|PILRB_uc003uun.2_Silent_p.L186L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	186	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTAAGTCTGGACACTGC	0.562		NaN											0	0	0	1	0	22	76				
C7orf51	222950	broad.mit.edu	37	7	100084635	100084635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100084635C>T	uc003uvd.1	+	3	419	c.260C>T	c.(259-261)TCG>TTG	p.S87L	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	87										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTGCCACTCGGTGGGCAGC	0.711		NaN											0	0	0	1	0	7	34				
C7orf51	222950	broad.mit.edu	37	7	100086600	100086600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100086600G>A	uc003uvd.1	+	4	1415	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q	C7orf51_uc003uve.1_Missense_Mutation_p.R201Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	419	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCAGCCCCGGGGGGAGCGG	0.577		NaN											0	0	0	1	0	6	31				
ACTL6B	51412	broad.mit.edu	37	7	100245112	100245112	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100245112C>T	uc003uvy.2	-	8	821	c.714G>A	c.(712-714)GAG>GAA	p.E238E	ACTL6B_uc003uvx.1_Silent_p.E29E|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTAGCTTCTCCTTCTTCT	0.612		NaN											0	0	0	1	0	27	99				
EPO	2056	broad.mit.edu	37	7	100320678	100320678	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100320678C>G	uc003uwi.2	+	5	685	c.504C>G	c.(502-504)CTC>CTG	p.L168L	EPO_uc011kkc.1_Silent_p.L167L	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	168					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCCGCAAACTCTTCCGAGTCT	0.567		NaN											0	0	0	1	0	57	169				
PLOD3	8985	broad.mit.edu	37	7	100856159	100856159	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100856159G>A	uc003uyd.2	-	8	1299	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	281					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGTTGCAGAAGCCACAGC	0.647		NaN											0	0	0	1	0	19	43				
FBXL13	222235	broad.mit.edu	37	7	102462632	102462632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:102462632C>G	uc003vaq.2	-	19	2300	c.1873G>C	c.(1873-1875)GAG>CAG	p.E625Q	FBXL13_uc010liq.1_Missense_Mutation_p.E158Q|FBXL13_uc010lir.1_Missense_Mutation_p.E580Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E597Q|FAM185A_uc011klh.1_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	625	LRR 16.										0						GATAACATCTCCATTGCTGAG	0.373		NaN											0	0	0	1	0	19	56				
SLC26A5	375611	broad.mit.edu	37	7	103017300	103017300	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:103017300C>G	uc003vbz.2	-	19	2232	c.1996G>C	c.(1996-1998)GAA>CAA	p.E666Q	SLC26A5_uc003vbt.1_Missense_Mutation_p.E666Q|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.E634Q|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	666	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TCTCCATATTCTTTTACAATC	0.328		NaN											0	0	0	1	0	5	34				
DOCK4	9732	broad.mit.edu	37	7	111541796	111541796	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:111541796C>T	uc003vfx.2	-	14	1523	c.1254G>A	c.(1252-1254)AAG>AAA	p.K418K	DOCK4_uc003vfy.2_Silent_p.K418K|DOCK4_uc003vga.1_Silent_p.K23K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	418	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGGCCACGCTCTTCCCTCCTT	0.358		NaN											0	0	0	1	0	7	24				
MDFIC	29969	broad.mit.edu	37	7	114655760	114655760	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:114655760T>C	uc003vhf.2	+	5	1102	c.839T>C	c.(838-840)ATC>ACC	p.I280T		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	171	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						GTCCACTGTATCCTGGCTTGC	0.443		NaN											0	0	0	1	0	92	317				
CTTNBP2	83992	broad.mit.edu	37	7	117431347	117431347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:117431347G>A	uc003vjf.2	-	4	1995	c.1903C>T	c.(1903-1905)CAG>TAG	p.Q635*		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	635										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCACCCACCTGAGACGTGGCC	0.552		NaN											0	0	0	1	0	15	55				
C7orf58	79974	broad.mit.edu	37	7	120764493	120764493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:120764493G>A	uc003vjq.3	+	8	1474	c.1027G>A	c.(1027-1029)GAA>AAA	p.E343K	C7orf58_uc003vjr.1_Missense_Mutation_p.E343K|C7orf58_uc003vjs.3_Missense_Mutation_p.E343K|C7orf58_uc003vjt.3_Missense_Mutation_p.E123K|C7orf58_uc010lkk.1_Missense_Mutation_p.E123K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	343						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AGTATTCAGTGAAACATCTAC	0.338		NaN											0	0	0	1	0	7	35				
AASS	10157	broad.mit.edu	37	7	121738811	121738811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:121738811C>G	uc003vka.2	-	13	1612	c.1516G>C	c.(1516-1518)GAA>CAA	p.E506Q	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.E506Q|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	506	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTGTTATTTCTATATTGCCA	0.333		NaN											0	0	0	1	0	14	33				
CPA2	1358	broad.mit.edu	37	7	129916530	129916530	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:129916530C>T	uc003vpq.2	+	7	667	c.648C>T	c.(646-648)TTC>TTT	p.F216F	CPA2_uc011kpc.1_Silent_p.F216F	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	216					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TGGATATCTTCCTCCTGCCAG	0.453		NaN											0	0	0	1	0	24	89				
CPA1	1357	broad.mit.edu	37	7	130027841	130027841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:130027841C>T	uc003vpx.2	+	10	1321	c.1249C>T	c.(1249-1251)CAC>TAC	p.H417Y		NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	417					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					CACCCTGAATCACCCCTACTG	0.567		NaN											0	0	0	1	0	66	233				
TMEM140	55281	broad.mit.edu	37	7	134849404	134849404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:134849404G>A	uc003vsi.2	+	2	492	c.211G>A	c.(211-213)GAA>AAA	p.E71K	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	71	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						CCCTGAGCTGGAAGCCCTGGG	0.622		NaN											0	0	0	1	0	48	115				
MGAM	8972	broad.mit.edu	37	7	141721466	141721466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:141721466G>C	uc003vwy.2	+	6	693	c.639G>C	c.(637-639)TTG>TTC	p.L213F		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	213	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCTTCTTTGACCTACCAAG	0.428		NaN											0	0	0	1	0	16	64				
EPHB6	2051	broad.mit.edu	37	7	142566063	142566063	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142566063T>C	uc011kst.1	+	14	2770	c.1983T>C	c.(1981-1983)CTT>CTC	p.L661L	EPHB6_uc011ksu.1_Silent_p.L661L|EPHB6_uc003wbs.2_Silent_p.L369L|EPHB6_uc003wbt.2_Silent_p.L135L|EPHB6_uc003wbu.2_Silent_p.L369L|EPHB6_uc003wbv.2_Silent_p.L45L	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	661	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCCGAGAACTTGCCCGGGAAG	0.567		NaN											0	0	0	1	0	20	79				
TRPV5	56302	broad.mit.edu	37	7	142612712	142612712	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142612712G>A	uc003wby.1	-	9	1413	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	383	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CCAGCCTGATGATATCTTCAC	0.527		NaN											0	0	0	1	0	16	50				
CUL1	8454	broad.mit.edu	37	7	148457547	148457547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148457547G>T	uc010lpg.2	+	7	1274	c.748G>T	c.(748-750)GAA>TAA	p.E250*	CUL1_uc003wey.2_Nonsense_Mutation_p.E250*|CUL1_uc003wez.2_Nonsense_Mutation_p.E140*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGAGAGTACTGAATTCTTGCA	0.348		NaN											1	0	3.7052e-28	1	3.95767e-28	42	99				
EZH2	2146	broad.mit.edu	37	7	148512132	148512132	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148512132C>G	uc003wfd.1	-	14	1698	c.1532_splice	c.e14-1	p.D511_splice	EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Splice_Site_p.D516_splice|EZH2_uc003wfc.1_Splice_Site_p.D472_splice|EZH2_uc011kuh.1_Splice_Site_p.D502_splice	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a						negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAGGAGCCGTCTGAGTAAAGA	0.443		NaN	Mis		DLBCL								0	0	0	1	0	8	25				
EZH2	2146	broad.mit.edu	37	7	148514356	148514356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148514356G>A	uc003wfd.1	-	11	1519	c.1353C>T	c.(1351-1353)TTC>TTT	p.F451F	EZH2_uc011kug.1_Silent_p.F442F|EZH2_uc003wfb.1_Silent_p.F456F|EZH2_uc003wfc.1_Silent_p.F412F|EZH2_uc011kuh.1_Silent_p.F442F|EZH2_uc011kui.1_3'UTR	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	451					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CAATGGCACAGAAATTGTCAT	0.378		NaN	Mis		DLBCL								0	0	0	1	0	7	23				
SSPO	23145	broad.mit.edu	37	7	149503891	149503891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:149503891C>G	uc010lpk.2	+	60	8719	c.8719C>G	c.(8719-8721)CGG>GGG	p.R2907G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2907					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTTGCCCTCGGCTATGCCT	0.612		NaN											0	0	0	1	0	4	12				
ABCB8	11194	broad.mit.edu	37	7	150738289	150738289	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150738289C>A	uc003wil.3	+	14	1731	c.1638C>A	c.(1636-1638)CTC>CTA	p.L546L	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.L529L|ABCB8_uc011kvd.1_Silent_p.L441L|ABCB8_uc003wim.3_Silent_p.L324L|ABCB8_uc003wik.3_Silent_p.L529L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	546	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTGGCTCCGGGGCCAGG	0.697		NaN											1	0	4.3838e-07	1	4.52823e-07	13	71				
AGAP3	116988	broad.mit.edu	37	7	150835257	150835257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150835257C>T	uc003wjg.1	+	12	1526	c.1523C>T	c.(1522-1524)TCC>TTC	p.S508F	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	472	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						AGCAGCGCATCCCTGCACTCT	0.682		NaN											0	0	0	1	0	7	27				
GALNT11	63917	broad.mit.edu	37	7	151802337	151802337	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151802337G>A	uc010lqg.1	+	5	824	c.594G>A	c.(592-594)TTG>TTA	p.L198L	GALNT11_uc011kvm.1_Silent_p.L117L|GALNT11_uc003wku.2_Silent_p.L198L|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	198	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGATGATTTGAAAGGAGAAC	0.328		NaN											0	0	0	1	0	10	44				
MLL3	58508	broad.mit.edu	37	7	151859702	151859702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151859702G>A	uc003wla.2	-	43	11179	c.10960C>T	c.(10960-10962)CAA>TAA	p.Q3654*	MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2715*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q1163*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3654					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCGGCTTGTTGAGGAAGCTCA	0.532		NaN	N		medulloblastoma								0	0	0	1	0	35	100		Valid		
NCAPG2	54892	broad.mit.edu	37	7	158456891	158456891	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158456891C>T	uc003wnv.1	-	15	1945	c.1800G>A	c.(1798-1800)GAG>GAA	p.E600E	NCAPG2_uc010lqu.1_Silent_p.E392E|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.E600E|NCAPG2_uc011kwe.1_Silent_p.E600E|NCAPG2_uc011kwc.1_Silent_p.E101E|NCAPG2_uc011kwd.1_Silent_p.E101E	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	600					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTCTCCTTCTCCCTTCCGT	0.512		NaN											0	0	0	1	0	11	82				
WDR60	55112	broad.mit.edu	37	7	158723187	158723187	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158723187C>T	uc003woe.3	+	21	2685	c.2527C>T	c.(2527-2529)CTG>TTG	p.L843L	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L475L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	843										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGTGCTCTGATCCAGTT	0.408		NaN											0	0	0	1	0	4	16				
CSMD1	64478	broad.mit.edu	37	8	4851876	4851876	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:4851876C>T	uc011kwk.1	-	1	453	c.63G>A	c.(61-63)GCG>GCA	p.A21A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	21						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGAGCCTCGCGCACAGCA	0.647		NaN											0	0	0	1	0	7	46				
SGK223	157285	broad.mit.edu	37	8	8175697	8175697	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8175697C>T	uc003wsh.3	-	5	4188	c.4188G>A	c.(4186-4188)CTG>CTA	p.L1396L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1396							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GCAGGAGCTTCAGCGACTGTA	0.657		NaN											0	0	0	1	0	26	57				
SGK223	157285	broad.mit.edu	37	8	8176545	8176545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8176545C>T	uc003wsh.3	-	5	3340	c.3340G>A	c.(3340-3342)GAG>AAG	p.E1114K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1114	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TCGTACGCCTCGGGCTCCGCC	0.672		NaN											0	0	0	1	0	78	203				
MFHAS1	9258	broad.mit.edu	37	8	8750290	8750290	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8750290G>C	uc003wsj.1	-	1	842	c.279C>G	c.(277-279)GTC>GTG	p.V93V		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	93	LRR 2.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTGCGCAGGACCAGGACGC	0.721		NaN											0	0	0	1	0	5	14				
TNFRSF10A	8797	broad.mit.edu	37	8	23049437	23049437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049437C>T	uc003xda.2	-	10	1242	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	393	Cytoplasmic (Potential).|Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACATCGATCTCATTTTTCGTG	0.522		NaN											0	0	0	1	0	47	51				
TNFRSF10A	8797	broad.mit.edu	37	8	23049482	23049482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049482C>T	uc003xda.2	-	10	1197	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	378	Cytoplasmic (Potential).|Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCAGGAGTCAAAGGGCACG	0.527		NaN											0	0	0	1	0	19	60				
NEFM	4741	broad.mit.edu	37	8	24775109	24775109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24775109G>A	uc003xed.3	+	3	1774	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	NEFM_uc011lac.1_Missense_Mutation_p.E581K|NEFM_uc010lue.2_Missense_Mutation_p.E205K	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	581	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaagccgaagctaaaga	0.259		NaN											0	0	0	1	0	5	23				
NEFL	4747	broad.mit.edu	37	8	24811727	24811727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24811727C>G	uc003xee.2	-	2	1239	c.1137G>C	c.(1135-1137)AAG>AAC	p.K379N		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	379	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAAAGCCATCTTCACGTTGA	0.393		NaN											0	0	0	1	0	36	139				
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:27729502C>T	uc003xgj.2	-	9	1877	c.1437G>A	c.(1435-1437)GTG>GTA	p.V479V	SCARA5_uc010luz.2_Silent_p.V254V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	479	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577		NaN											0	0	0	1	0	23	78				
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:28671062C>G	uc003xha.2	-	7	855	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	INTS9_uc011lav.1_Missense_Mutation_p.E162Q|INTS9_uc011law.1_Missense_Mutation_p.E165Q|INTS9_uc011lax.1_Missense_Mutation_p.E79Q|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.E186Q	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	186					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413		NaN											0	0	0	1	0	34	101				
GSR	2936	broad.mit.edu	37	8	30560623	30560623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30560623C>T	uc003xih.1	-	5	718	c.627G>A	c.(625-627)GAG>GAA	p.E209E		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	209					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGATCTGGCTCTCATGAGGGG	0.527		NaN											0	0	0	1	0	37	113				
PURG	29942	broad.mit.edu	37	8	30889344	30889344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30889344C>T	uc003xin.2	-	1	974	c.955G>A	c.(955-957)GAA>AAA	p.E319K	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	319						nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTCATCTCTTCTTCATACTTG	0.403		NaN											0	0	0	1	0	4	3				
WRN	7486	broad.mit.edu	37	8	30969307	30969307	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30969307C>G	uc003xio.3	+	19	3053	c.2265C>G	c.(2263-2265)GTC>GTG	p.V755V	WRN_uc010lvk.2_Silent_p.V222V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	755	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CATTTCTTGTCAAAACAAGGT	0.328		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	1	0	13	31				
WRN	7486	broad.mit.edu	37	8	31024573	31024573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:31024573C>T	uc003xio.3	+	34	4806	c.4018C>T	c.(4018-4020)CCT>TCT	p.P1340S	WRN_uc010lvk.2_Missense_Mutation_p.P807S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1340					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATGTTAGTTCCTGAAAACAT	0.343		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	1	0	18	35				
FUT10	84750	broad.mit.edu	37	8	33310999	33310999	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:33310999C>T	uc003xje.2	-	3	467	c.111G>A	c.(109-111)AGG>AGA	p.R37R	FUT10_uc003xjc.2_Silent_p.R44R|FUT10_uc003xjd.2_Silent_p.R9R|FUT10_uc011lbi.1_Silent_p.R87R|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.R9R|FUT10_uc003xjh.2_Silent_p.R37R|FUT10_uc003xji.1_Silent_p.R37R	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	37	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TAAACTCCTTCCTTTCAAACT	0.363		NaN											0	0	0	1	0	19	70				
KCNU1	157855	broad.mit.edu	37	8	36698504	36698504	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:36698504C>G	uc010lvw.2	+	16	1773	c.1686C>G	c.(1684-1686)CTC>CTG	p.L562L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGTCCCTCTTTACGGATG	0.403		NaN											0	0	0	1	0	15	39				
FGFR1	2260	broad.mit.edu	37	8	38282030	38282030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:38282030C>G	uc003xlp.2	-	7	1875	c.933G>C	c.(931-933)TTG>TTC	p.L311F	FGFR1_uc011lbo.1_Missense_Mutation_p.L309F|FGFR1_uc011lbp.1_Missense_Mutation_p.L222F|FGFR1_uc011lbq.1_Missense_Mutation_p.L220F|FGFR1_uc010lwk.2_Missense_Mutation_p.L303F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.L151F|FGFR1_uc011lbt.1_Missense_Mutation_p.L220F|FGFR1_uc011lbu.1_Missense_Mutation_p.L342F|FGFR1_uc011lbv.1_Missense_Mutation_p.L309F|FGFR1_uc011lbw.1_Missense_Mutation_p.L222F|FGFR1_uc011lbx.1_Missense_Mutation_p.L222F|FGFR1_uc003xlv.2_Missense_Mutation_p.L222F|FGFR1_uc003xlu.2_Missense_Mutation_p.L220F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	311	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGATTACCTTCAAGATCTGGA	0.567		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	1	0	34	73				
ADAM18	8749	broad.mit.edu	37	8	39495221	39495221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:39495221G>C	uc003xni.2	+	9	826	c.826G>C	c.(826-828)GTT>CTT	p.V276L	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.V252L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	276	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTTACTTGTGTAAGCACA	0.353		NaN											0	0	0	1	0	10	18				
POTEA	340441	broad.mit.edu	37	8	43147757	43147757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:43147757G>A	uc003xpz.1	+	1	173	c.130G>A	c.(130-132)GGT>AGT	p.G44S	POTEA_uc003xqa.1_Missense_Mutation_p.G44S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	44										ovary(1)	1						GAACAACATGGGTGCTTGGAG	0.602		NaN											0	0	0	1	0	41	113				
KIAA0146	23514	broad.mit.edu	37	8	48309060	48309060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48309060G>C	uc003xqd.2	+	6	659	c.650G>C	c.(649-651)AGA>ACA	p.R217T	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.R217T|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R147T|KIAA0146_uc011ldd.1_Missense_Mutation_p.R157T|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	217											0		Lung NSC(58;0.175)				TCGGATGCAAGACAGATTATG	0.408		NaN											0	0	0	1	0	33	87				
KIAA0146	23514	broad.mit.edu	37	8	48641546	48641546	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48641546C>G	uc003xqd.2	+	18	2496	c.2487C>G	c.(2485-2487)CTC>CTG	p.L829L	KIAA0146_uc011ldc.1_Silent_p.L759L|KIAA0146_uc011ldd.1_Silent_p.L769L|KIAA0146_uc003xqe.2_Silent_p.L304L|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Silent_p.L334L|KIAA0146_uc011ldg.1_Silent_p.L319L|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	829											0		Lung NSC(58;0.175)				CTCCTGTTCTCAAGAGGCACC	0.592		NaN											0	0	0	1	0	15	78				
PCMTD1	115294	broad.mit.edu	37	8	52733177	52733177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:52733177G>A	uc003xqx.3	-	6	1149	c.808C>T	c.(808-810)CAA>TAA	p.Q270*	PCMTD1_uc011ldm.1_Nonsense_Mutation_p.Q140*|PCMTD1_uc003xqw.3_Nonsense_Mutation_p.Q270*|PCMTD1_uc011ldn.1_Nonsense_Mutation_p.Q82*|PCMTD1_uc010lya.2_Nonsense_Mutation_p.Q194*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	270						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGAGCCCTTTGAGGAATCCCC	0.423		NaN											0	0	0	1	0	9	143				
RB1CC1	9821	broad.mit.edu	37	8	53558413	53558413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:53558413G>A	uc003xre.3	-	16	4394	c.3836C>T	c.(3835-3837)TCT>TTT	p.S1279F	RB1CC1_uc003xrf.3_Missense_Mutation_p.S1279F	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1279	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCCTCTGGTAGAGTCAATGGC	0.308		NaN											0	0	0	1	0	16	39				
RP1	6101	broad.mit.edu	37	8	55537354	55537354	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55537354G>C	uc003xsd.1	+	4	1060	c.912G>C	c.(910-912)AAG>AAC	p.K304N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	304					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTAGAAAAGAATGATTCTC	0.318		NaN											0	0	0	1	0	4	35				
RP1	6101	broad.mit.edu	37	8	55538471	55538471	+	Nonsense_Mutation	SNP	C	C	T	rs104894082		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55538471C>T	uc003xsd.1	+	4	2177	c.2029C>T	c.(2029-2031)CGA>TGA	p.R677*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	677					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAAAATCTCGACAGCAAGC	0.323		NaN											0	0	0	1	0	9	25				
CHD7	55636	broad.mit.edu	37	8	61693580	61693580	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61693580C>T	uc003xue.2	+	3	2164	c.1687C>T	c.(1687-1689)CTA>TTA	p.L563L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	563	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCCCTTTCTAGAGAAACC	0.433		NaN											0	0	0	1	0	5	16				
CHD7	55636	broad.mit.edu	37	8	61773577	61773577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61773577G>C	uc003xue.2	+	35	8200	c.7723G>C	c.(7723-7725)GAA>CAA	p.E2575Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2575					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATCAATCTTGAAGATGGGAC	0.458		NaN											0	0	0	1	0	16	47		Valid		
VCPIP1	80124	broad.mit.edu	37	8	67576660	67576660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:67576660C>T	uc003xwn.2	-	1	2793	c.2534G>A	c.(2533-2535)AGA>AAA	p.R845K		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	845					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TATTGTAATTCTGTCGCCATG	0.428		NaN											0	0	0	1	0	20	61				
PREX2	80243	broad.mit.edu	37	8	69039652	69039652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:69039652C>T	uc003xxv.1	+	31	3791	c.3764C>T	c.(3763-3765)TCA>TTA	p.S1255L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1255					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTTGAATATTCAGGTAACATT	0.353		NaN											0	0	0	1	0	15	55				
KCNB2	9312	broad.mit.edu	37	8	73848659	73848659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:73848659G>A	uc003xzb.2	+	3	1657	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	357					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ATTTTTTGCTGAGAAGGATGA	0.448		NaN											0	0	0	1	0	42	128				
ZFHX4	79776	broad.mit.edu	37	8	77775830	77775830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:77775830G>A	uc003yav.2	+	11	10132	c.9745G>A	c.(9745-9747)GAG>AAG	p.E3249K		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTGGCATGGAGAGCCTCTT	0.443		NaN								HNSCC(33;0.089)			0	0	0	1	0	17	51				
SNX16	64089	broad.mit.edu	37	8	82714735	82714735	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:82714735C>G	uc011lft.1	-	8	1326	c.819_splice	c.e8-1	p.R273_splice	SNX16_uc003ycn.2_Splice_Site_p.R273_splice|SNX16_uc003yco.2_Splice_Site_p.R244_splice	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a						cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						AGACAATGTTCTAAAAGTATG	0.368		NaN											0	0	0	1	0	5	21				
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:92972658C>G	uc003yfd.2	-	11	1711	c.1627G>C	c.(1627-1629)GAC>CAC	p.D543H	RUNX1T1_uc003yfc.1_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.D506H|RUNX1T1_uc010mao.2_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.D554H|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.1_Missense_Mutation_p.D506H	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	543	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567		NaN											0	0	0	1	0	19	42				
TMEM67	91147	broad.mit.edu	37	8	94808168	94808168	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:94808168C>G	uc011lgk.1	+	18	1884	c.1813C>G	c.(1813-1815)CAG>GAG	p.Q605E	TMEM67_uc010maw.2_Missense_Mutation_p.Q311E|TMEM67_uc003yga.3_Missense_Mutation_p.Q524E|TMEM67_uc011lgl.1_Missense_Mutation_p.Q4E	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	605					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AATGCCAATTCAGGAAGAACG	0.323		NaN											0	0	0	1	0	30	71				
KIAA1429	25962	broad.mit.edu	37	8	95527162	95527162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:95527162C>A	uc003ygo.1	-	11	2699	c.2686G>T	c.(2686-2688)GAA>TAA	p.E896*	KIAA1429_uc003ygp.2_Nonsense_Mutation_p.E896*|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	896					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAGAGGTTCAAGCCACTTG	0.259		NaN											1	0	0.0581538	1	0.0583952	10	14				
UBR5	51366	broad.mit.edu	37	8	103266703	103266703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:103266703C>T	uc003ykr.1	-	59	8260	c.8227G>A	c.(8227-8229)GAA>AAA	p.E2743K	UBR5_uc003yks.1_Missense_Mutation_p.E2742K|UBR5_uc003ykq.2_Missense_Mutation_p.E254K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2743	Pro-rich.|HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCTTCTTCACTGGCTGGC	0.418		NaN											0	0	0	1	0	15	46				
EXT1	2131	broad.mit.edu	37	8	118847773	118847773	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:118847773C>T	uc003yok.1	-	3	1847	c.1074G>A	c.(1072-1074)GTG>GTA	p.V358V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	358	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCTGAGCATCACAGGGACGC	0.478		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	1	0	15	41				
COL14A1	7373	broad.mit.edu	37	8	121282363	121282363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:121282363C>A	uc003yox.2	+	26	3428	c.3163C>A	c.(3163-3165)CTA>ATA	p.L1055I	COL14A1_uc003yoz.2_Missense_Mutation_p.L20I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1055	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATCAGCTTTCTATACAGCAC	0.383		NaN											1	0	3.59834e-05	1	3.66325e-05	6	36				
WDR67	93594	broad.mit.edu	37	8	124146406	124146406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124146406G>C	uc003ypp.1	+	17	2549	c.2459G>C	c.(2458-2460)AGA>ACA	p.R820T	WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R710T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R454T|WDR67_uc003ypt.1_Missense_Mutation_p.R277T|WDR67_uc003ypu.1_Missense_Mutation_p.R277T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	820	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTAGAAATGAGACAGCTGGAA	0.313		NaN											0	0	0	1	0	27	69				
FER1L6	654463	broad.mit.edu	37	8	124968267	124968267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124968267G>C	uc003yqw.2	+	2	235	c.29G>C	c.(28-30)AGA>ACA	p.R10T		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	10	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGAAGAGAAATAAGGCA	0.463		NaN											0	0	0	1	0	9	23				
NDUFB9	4715	broad.mit.edu	37	8	125555327	125555327	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555327G>C	uc003yrg.3	+	2	187	c.102_splice	c.e2-1	p.R34_splice	NDUFB9_uc011lim.1_Splice_Site_p.R34_splice	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TTTGGTTTAAGAGACAAATAC	0.453		NaN											0	0	0	1	0	14	63				
NDUFB9	4715	broad.mit.edu	37	8	125555347	125555347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555347G>C	uc003yrg.3	+	2	206	c.121G>C	c.(121-123)GCT>CCT	p.A41P	NDUFB9_uc011lim.1_Missense_Mutation_p.A41P	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	41					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CCGATACTTTGCTTGTTTGAT	0.448		NaN											0	0	0	1	0	15	67				
KIAA0196	9897	broad.mit.edu	37	8	126036882	126036882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:126036882C>T	uc003yrt.2	-	29	3786	c.3457G>A	c.(3457-3459)GAT>AAT	p.D1153N	KIAA0196_uc011lir.1_Missense_Mutation_p.D1005N	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1153					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGAACTCATCAAAAATGAAA	0.318		NaN											0	0	0	1	0	10	39				
ASAP1	50807	broad.mit.edu	37	8	131073251	131073251	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:131073251C>T	uc003yta.1	-	27	2794	c.2766G>A	c.(2764-2766)CAG>CAA	p.Q922Q	ASAP1_uc003ysz.1_Silent_p.Q733Q|ASAP1_uc011liw.1_Silent_p.Q915Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	922	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GTGATGATTTCTGAAAGATTT	0.512		NaN											0	0	0	1	0	42	145				
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:132052131C>T	uc003ytd.3	-	1	705	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	ADCY8_uc010mds.2_Missense_Mutation_p.R150Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	150	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577		NaN								HNSCC(32;0.087)			0	0	0	1	0	17	29				
TMEM71	137835	broad.mit.edu	37	8	133740098	133740098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:133740098G>A	uc003ytp.2	-	6	848	c.619C>T	c.(619-621)CAG>TAG	p.Q207*	TMEM71_uc003ytm.1_Nonsense_Mutation_p.Q29*|TMEM71_uc003ytn.2_Nonsense_Mutation_p.Q189*|TMEM71_uc003yto.2_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	208						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACTGGGACTGAAGAGACAAG	0.463		NaN											0	0	0	1	0	38	112				
EIF2C2	27161	broad.mit.edu	37	8	141568637	141568637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:141568637C>T	uc003yvn.2	-	7	865	c.825G>A	c.(823-825)ATG>ATA	p.M275I	EIF2C2_uc010men.2_Missense_Mutation_p.M198I|EIF2C2_uc010meo.2_Missense_Mutation_p.M275I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	275	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ACTTCCTCTTCATCTGCCCAC	0.612		NaN											0	0	0	1	0	30	108				
TSNARE1	203062	broad.mit.edu	37	8	143396400	143396400	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:143396400G>C	uc003ywk.2	-	8	1156	c.1038C>G	c.(1036-1038)CTC>CTG	p.L346L	TSNARE1_uc011lju.1_Silent_p.L345L|TSNARE1_uc003ywj.2_Silent_p.L346L|TSNARE1_uc003ywl.3_Silent_p.L126L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	346					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCATCTGAGAGCTGGGTTT	0.652		NaN											0	0	0	1	0	21	103				
TIGD5	84948	broad.mit.edu	37	8	144681737	144681737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:144681737C>T	uc003yyx.1	+	1	1517	c.1517C>T	c.(1516-1518)CCT>CTT	p.P506L	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	555					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCTGCCCCCTGCAGCGCCT	0.716		NaN											0	0	0	1	0	3	11				
PLEC	5339	broad.mit.edu	37	8	145003979	145003979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145003979C>G	uc003zaf.1	-	23	3339	c.3169G>C	c.(3169-3171)GAG>CAG	p.E1057Q	PLEC_uc003zab.1_Missense_Mutation_p.E920Q|PLEC_uc003zac.1_Missense_Mutation_p.E924Q|PLEC_uc003zad.2_Missense_Mutation_p.E920Q|PLEC_uc003zae.1_Missense_Mutation_p.E888Q|PLEC_uc003zag.1_Missense_Mutation_p.E898Q|PLEC_uc003zah.2_Missense_Mutation_p.E906Q|PLEC_uc003zaj.2_Missense_Mutation_p.E947Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1057	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCTGCTCCTCTGGCTTCAGG	0.706		NaN											0	0	0	1	0	9	23				
PLEC	5339	broad.mit.edu	37	8	145004382	145004382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145004382C>A	uc003zaf.1	-	21	3123	c.2953G>T	c.(2953-2955)GAG>TAG	p.E985*	PLEC_uc003zab.1_Nonsense_Mutation_p.E848*|PLEC_uc003zac.1_Nonsense_Mutation_p.E852*|PLEC_uc003zad.2_Nonsense_Mutation_p.E848*|PLEC_uc003zae.1_Nonsense_Mutation_p.E816*|PLEC_uc003zag.1_Nonsense_Mutation_p.E826*|PLEC_uc003zah.2_Nonsense_Mutation_p.E834*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E875*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	985	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACGGCGGCCTCGCTGCCGGAG	0.716		NaN											1	0	0.184627	1	0.184846	5	13				
GRINA	2907	broad.mit.edu	37	8	145066917	145066917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145066917G>A	uc003zan.1	+	7	1190	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	GRINA_uc003zao.1_Missense_Mutation_p.E342K|GRINA_uc003zap.1_Missense_Mutation_p.E342K	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	342						integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAGCCCAGAAGAGTATGT	0.562		NaN											0	0	0	1	0	11	45				
MFSD3	113655	broad.mit.edu	37	8	145736434	145736434	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145736434C>T	uc003zdi.1	+	5	1291	c.1126C>T	c.(1126-1128)CTG>TTG	p.L376L		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	376	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGGGCACTCTGGCCGGAGG	0.647		NaN											0	0	0	1	0	47	151				
DMRT3	58524	broad.mit.edu	37	9	990886	990886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:990886C>T	uc003zgw.1	+	2	1338	c.1300C>T	c.(1300-1302)CGG>TGG	p.R434W		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	434					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGAAGACCCTCGGATTTCCAT	0.542		NaN											0	0	0	1	0	27	100				
SMARCA2	6595	broad.mit.edu	37	9	2056767	2056767	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2056767G>C	uc003zhc.2	+	7	1368	c.1269G>C	c.(1267-1269)CTG>CTC	p.L423L	SMARCA2_uc003zhd.2_Silent_p.L423L|SMARCA2_uc010mha.2_Silent_p.L414L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	423					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCCAGACTCTGAGAGAAGCTC	0.572		NaN											0	0	0	1	0	15	29				
KIAA0020	9933	broad.mit.edu	37	9	2837350	2837350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2837350C>T	uc003zhp.1	-	3	230	c.134G>A	c.(133-135)GGA>GAA	p.G45E	KIAA0020_uc010mhc.1_Missense_Mutation_p.G44E|KIAA0020_uc003zhq.1_Missense_Mutation_p.G45E	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	45						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GACTTTAGGTCCACCTTCTTT	0.373		NaN											0	0	0	1	0	17	79				
JAK2	3717	broad.mit.edu	37	9	5022040	5022040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5022040C>G	uc010mhm.2	+	2	166	c.53C>G	c.(52-54)TCT>TGT	p.S18C	JAK2_uc003ziw.2_Missense_Mutation_p.S18C	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	18	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TCCACCTCTTCTATATATCAG	0.393		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				0	0	0	1	0	24	77				
KIAA1432	57589	broad.mit.edu	37	9	5765728	5765728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5765728G>A	uc003zji.2	+	20	2923	c.2830G>A	c.(2830-2832)GAA>AAA	p.E944K	KIAA1432_uc003zjh.2_Missense_Mutation_p.E944K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E907K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E486K|ERMP1_uc011lme.1_RNA	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1023						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCAGTCAGCTGAAAATGTTCC	0.398		NaN											0	0	0	1	0	10	126				
PTPRD	5789	broad.mit.edu	37	9	8484270	8484270	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:8484270G>A	uc003zkk.2	-	29	3973	c.3262C>T	c.(3262-3264)CGT>TGT	p.R1088C	PTPRD_uc003zkp.2_Missense_Mutation_p.R677C|PTPRD_uc003zkq.2_Missense_Mutation_p.R677C|PTPRD_uc003zkr.2_Missense_Mutation_p.R672C|PTPRD_uc003zks.2_Missense_Mutation_p.R667C|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079C|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075C|PTPRD_uc003zkn.2_Missense_Mutation_p.R677C|PTPRD_uc003zko.2_Missense_Mutation_p.R674C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1088	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTTTCCACGATTTGTCAGC	0.478		NaN								TSP Lung(15;0.13)			0	0	0	1	0	20	65				
BNC2	54796	broad.mit.edu	37	9	16436824	16436824	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:16436824G>C	uc003zml.2	-	6	1508	c.1368C>G	c.(1366-1368)CTC>CTG	p.L456L	BNC2_uc011lmw.1_Silent_p.L361L|BNC2_uc003zmm.2_Silent_p.L414L|BNC2_uc003zmq.1_Silent_p.L470L|BNC2_uc003zmr.1_Silent_p.L493L|BNC2_uc003zmp.1_Silent_p.L484L|BNC2_uc010mij.1_Silent_p.L378L|BNC2_uc011lmv.1_Silent_p.L282L|BNC2_uc003zmo.1_Silent_p.L378L|BNC2_uc003zmj.2_Silent_p.L221L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.L221L|BNC2_uc003zmn.1_Silent_p.L221L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	456	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGAATTTTGAGAGTACCTT	0.448		NaN											0	0	0	1	0	26	68				
CNTLN	54875	broad.mit.edu	37	9	17464510	17464510	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:17464510G>A	uc003zmz.2	+	21	3443	c.3417G>A	c.(3415-3417)GAG>GAA	p.E1139E	CNTLN_uc003zmy.2_Silent_p.E1140E|CNTLN_uc010mio.2_Silent_p.E819E	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1140	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCGAATGGAGAGGGATATAA	0.303		NaN											0	0	0	1	0	16	34				
DENND4C	55667	broad.mit.edu	37	9	19345995	19345995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19345995G>C	uc003znq.2	+	18	2406	c.2373G>C	c.(2371-2373)AAG>AAC	p.K791N	DENND4C_uc011lnc.1_Missense_Mutation_p.K121N|DENND4C_uc011lnd.1_Missense_Mutation_p.K79N|DENND4C_uc003znr.2_Missense_Mutation_p.K79N|DENND4C_uc003zns.2_5'UTR|DENND4C_uc003znt.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	791						integral to membrane				ovary(1)|skin(1)	2						CTAATCTCAAGAAGAATGGTG	0.358		NaN											0	0	0	1	0	19	65				
DENND4C	55667	broad.mit.edu	37	9	19346457	19346457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19346457G>C	uc003znq.2	+	18	2868	c.2835G>C	c.(2833-2835)AAG>AAC	p.K945N	DENND4C_uc011lnc.1_Missense_Mutation_p.K275N|DENND4C_uc011lnd.1_Missense_Mutation_p.K233N|DENND4C_uc003znr.2_Missense_Mutation_p.K233N|DENND4C_uc003zns.2_Missense_Mutation_p.K127N|DENND4C_uc003znt.2_Missense_Mutation_p.K127N	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	945						integral to membrane				ovary(1)|skin(1)	2						TGAGGAATAAGAGAAGTAGTT	0.378		NaN											0	0	0	1	0	12	70				
RPS6	6194	broad.mit.edu	37	9	19376564	19376564	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19376564C>G	uc003znv.1	-	5	624	c.582G>C	c.(580-582)CTG>CTC	p.L194L	RPS6_uc003znu.1_Silent_p.L163L	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	194					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCTGCTTCTTCAGAGCAATAC	0.448		NaN											0	0	0	1	0	26	105				
SLC24A2	25769	broad.mit.edu	37	9	19786586	19786586	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19786586C>G	uc003zoa.1	-	1	341	c.279G>C	c.(277-279)AAG>AAC	p.K93N	SLC24A2_uc003zob.1_Missense_Mutation_p.K93N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	93	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCCAGAATCTTGTCATTTA	0.473		NaN											0	0	0	1	0	18	86				
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:32784684C>T	uc003zri.3	+	2	868	c.503C>T	c.(502-504)TCG>TTG	p.S168L		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane					0						TACTGCCCCTCGGGCAGTTCC	0.587		NaN											0	0	0	1	0	22	44				
DNAI1	27019	broad.mit.edu	37	9	34489432	34489432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:34489432G>C	uc003zum.2	+	5	566	c.373G>C	c.(373-375)GAT>CAT	p.D125H		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	125					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCATTACCGCGATGAATTAGT	0.527		NaN							Kartagener_syndrome				0	0	0	1	0	19	83				
POLR1E	64425	broad.mit.edu	37	9	37498107	37498107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:37498107G>A	uc003zzz.1	+	8	1246	c.958G>A	c.(958-960)GAA>AAA	p.E320K	POLR1E_uc003zzy.1_Missense_Mutation_p.E258K|POLR1E_uc011lqk.1_Missense_Mutation_p.E187K	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	320					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CTTTGTCATAGAAGCGTTGAA	0.483		NaN											0	0	0	1	0	27	54				
C9orf71	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71155605C>T	uc004agt.2	-	1	179	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	hypothetical protein LOC169693	42	Helical; (Potential).					integral to membrane					0						GCAAATAGGCCGCAATCAGGC	0.532		NaN											0	0	0	1	0	4	46				
TJP2	9414	broad.mit.edu	37	9	71851902	71851902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851902G>C	uc004ahe.2	+	14	2229	c.2029G>C	c.(2029-2031)GAC>CAC	p.D677H	TJP2_uc011lrs.1_Missense_Mutation_p.D654H|TJP2_uc011lrt.1_Missense_Mutation_p.D654H|TJP2_uc004ahd.2_Missense_Mutation_p.D677H|TJP2_uc004ahf.2_Missense_Mutation_p.D677H|TJP2_uc011lru.1_Missense_Mutation_p.D681H|TJP2_uc011lrv.1_Missense_Mutation_p.D699H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	677					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TGCCCAGAGAGACAACGCTGG	0.498		NaN											0	0	0	1	0	44	175				
TJP2	9414	broad.mit.edu	37	9	71851923	71851923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851923G>A	uc004ahe.2	+	14	2250	c.2050G>A	c.(2050-2052)GAT>AAT	p.D684N	TJP2_uc011lrs.1_Missense_Mutation_p.D661N|TJP2_uc011lrt.1_Missense_Mutation_p.D661N|TJP2_uc004ahd.2_Missense_Mutation_p.D684N|TJP2_uc004ahf.2_Missense_Mutation_p.D684N|TJP2_uc011lru.1_Missense_Mutation_p.D688N|TJP2_uc011lrv.1_Missense_Mutation_p.D706N	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	684	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGACCGGGCAGATTTCTGGAG	0.512		NaN											0	0	0	1	0	41	173				
TJP2	9414	broad.mit.edu	37	9	71852031	71852031	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71852031G>C	uc004ahe.2	+	14	2358	c.2158G>C	c.(2158-2160)GAG>CAG	p.E720Q	TJP2_uc011lrs.1_Missense_Mutation_p.E697Q|TJP2_uc011lrt.1_Missense_Mutation_p.E697Q|TJP2_uc004ahd.2_Missense_Mutation_p.E720Q|TJP2_uc004ahf.2_Missense_Mutation_p.E720Q|TJP2_uc011lru.1_Missense_Mutation_p.E724Q|TJP2_uc011lrv.1_Missense_Mutation_p.E742Q	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	720	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CCCAGCTTATGAGAGGGTTTT	0.517		NaN											0	0	0	1	0	24	112				
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:74764516G>T	uc004aiq.2	+	1	224	c.41G>T	c.(40-42)CGA>CTA	p.R14L	GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.R14L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701		NaN											1	0	1.33834e-09	1	1.3952e-09	18	29				
TRPM6	140803	broad.mit.edu	37	9	77416817	77416817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:77416817G>C	uc004ajl.1	-	16	2244	c.2006C>G	c.(2005-2007)TCA>TGA	p.S669*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.S664*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.S47*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	669	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CACTTACTTTGAGTAATTCTT	0.408		NaN											0	0	0	1	0	18	66				
KIF27	55582	broad.mit.edu	37	9	86474218	86474218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:86474218C>G	uc004ana.2	-	14	3147	c.3003G>C	c.(3001-3003)AAG>AAC	p.K1001N	KIF27_uc010mpw.2_Missense_Mutation_p.K935N|KIF27_uc010mpx.2_Missense_Mutation_p.K904N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1001	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GCTGCACATTCTTTTCAGACA	0.423		NaN											0	0	0	1	0	19	79				
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:88247959G>A	uc011ltd.1	-	13	1666	c.1633C>T	c.(1633-1635)CAA>TAA	p.Q545*	AGTPBP1_uc004aod.3_Nonsense_Mutation_p.Q171*|AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.Q443*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.Q505*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.Q557*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GGGGCTGTTTGAGAAGGAATA	0.423		NaN											0	0	0	1	0	15	56				
C9orf79	286234	broad.mit.edu	37	9	90497818	90497818	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:90497818C>T	uc004app.3	+	1	47	c.12C>T	c.(10-12)CTC>CTT	p.L4L	C9orf79_uc004apo.1_Silent_p.L4L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	4						integral to membrane				ovary(3)	3						TGGGAAATCTCGTCATCCCTC	0.607		NaN											0	0	0	1	0	17	39				
SPTLC1	10558	broad.mit.edu	37	9	94809914	94809914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:94809914G>C	uc004arl.1	-	10	1003	c.965C>G	c.(964-966)TCT>TGT	p.S322C	SPTLC1_uc011ltv.1_Missense_Mutation_p.S322C	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	322	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AATTACAAAAGACCTGCCACA	0.388		NaN											0	0	0	1	0	5	19				
ZNF484	83744	broad.mit.edu	37	9	95610035	95610035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:95610035C>T	uc004asu.1	-	5	1183	c.1034G>A	c.(1033-1035)AGA>AAA	p.R345K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R347K|ZNF484_uc010mrb.1_Missense_Mutation_p.R309K|ZNF484_uc004asv.1_Missense_Mutation_p.R309K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	345	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTGGCATCTGAACAGATC	0.363		NaN											0	0	0	1	0	15	47				
CTSL2	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:99795232C>T	uc004awt.2	-	8	1201	c.1004G>A	c.(1003-1005)TGA>TAA	p.*335*	CTSL2_uc010msi.2_Silent_p.*335*|CTSL2_uc004awu.2_Silent_p.*280*	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	335						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TCCATCAGCTCACACATTGGG	0.468		NaN											0	0	0	1	0	11	51				
NCBP1	4686	broad.mit.edu	37	9	100417166	100417166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:100417166C>T	uc004axq.2	+	12	1634	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	392					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				TCACAGCTTGCACAGGCAACT	0.358		NaN											0	0	0	1	0	11	38				
ABCA1	19	broad.mit.edu	37	9	107571819	107571819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:107571819G>A	uc004bcl.2	-	30	4515	c.4202C>T	c.(4201-4203)ACC>ATC	p.T1401I		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1401	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGTTCCAGGGTTCCCGTGTC	0.483		NaN											0	0	0	1	0	10	35				
RAD23B	5887	broad.mit.edu	37	9	110086268	110086268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:110086268G>C	uc004bde.2	+	8	1282	c.915G>C	c.(913-915)CAG>CAC	p.Q305H	RAD23B_uc011lwa.1_Missense_Mutation_p.Q305H|RAD23B_uc011lwb.1_Missense_Mutation_p.Q284H	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	305	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						TACTACAGCAGATAGGTCGAG	0.408		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	15	46				
PTPN3	5774	broad.mit.edu	37	9	112153421	112153421	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:112153421C>T	uc004bed.2	-	21	2215	c.2103G>A	c.(2101-2103)GTG>GTA	p.V701V	PTPN3_uc004beb.2_Silent_p.V570V|PTPN3_uc004bec.2_Silent_p.V525V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V656V|PTPN3_uc011lwh.1_Silent_p.V547V|PTPN3_uc011lwd.1_Silent_p.V169V|PTPN3_uc011lwe.1_Silent_p.V414V|PTPN3_uc011lwf.1_Silent_p.V369V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	701	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AACTTACGTTCACGTAACTTG	0.358		NaN											0	0	0	1	0	7	19				
FKBP15	23307	broad.mit.edu	37	9	115969571	115969571	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:115969571G>C	uc004bgs.2	-	3	293	c.175C>G	c.(175-177)CAG>GAG	p.Q59E	FKBP15_uc010muu.1_Missense_Mutation_p.Q123E|FKBP15_uc011lxd.1_Translation_Start_Site|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Missense_Mutation_p.Q59E	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	59					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						GGTGTTGCCTGATTTCCTGAA	0.338		NaN											0	0	0	1	0	48	207				
ORM1	5004	broad.mit.edu	37	9	117087340	117087340	+	Missense_Mutation	SNP	G	G	C	rs143596557		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117087340G>C	uc004bik.3	+	5	559	c.448G>C	c.(448-450)GAG>CAG	p.E150Q	ORM1_uc011lxo.1_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	150					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TGACAAGCCAGAGACGACCAA	0.612		NaN											0	0	0	1	0	18	61				
TNC	3371	broad.mit.edu	37	9	117838737	117838737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117838737G>A	uc004bjj.3	-	8	3154	c.2792C>T	c.(2791-2793)TCT>TTT	p.S931F	TNC_uc010mvf.2_Missense_Mutation_p.S931F	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	931	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GTCCCCTCCAGAGATGGGGGC	0.507		NaN											0	0	0	1	0	64	168				
MEGF9	1955	broad.mit.edu	37	9	123476050	123476050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:123476050G>C	uc004bkj.1	-	1	563	c.563C>G	c.(562-564)TCT>TGT	p.S188C	MEGF9_uc011lyb.1_Missense_Mutation_p.S188C|MEGF9_uc004bkk.3_Missense_Mutation_p.S188C	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	196	Extracellular (Potential).|Pro-rich.					integral to membrane	calcium ion binding				0						AGGAGGCGAAGAGGGGGCCTC	0.682		NaN											0	0	0	1	0	6	23				
GSN	2934	broad.mit.edu	37	9	124065295	124065295	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124065295C>T	uc004blf.1	+	3	517	c.456C>T	c.(454-456)TTC>TTT	p.F152F	GSN_uc004bld.1_Silent_p.F101F|GSN_uc010mvq.1_Silent_p.F112F|GSN_uc010mvr.1_Silent_p.F112F|GSN_uc010mvu.1_Silent_p.F101F|GSN_uc010mvt.1_Silent_p.F101F|GSN_uc010mvs.1_Silent_p.F101F|GSN_uc004ble.1_Silent_p.F101F|GSN_uc010mvv.1_Silent_p.F101F|GSN_uc011lyh.1_Silent_p.F118F|GSN_uc011lyi.1_Silent_p.F101F|GSN_uc011lyj.1_Silent_p.F125F	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	152	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TCCAGGGCTTCGAGTCGGCCA	0.617		NaN											0	0	0	1	0	28	112				
DAB2IP	153090	broad.mit.edu	37	9	124522678	124522678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124522678C>G	uc004bln.2	+	6	1115	c.1046C>G	c.(1045-1047)TCT>TGT	p.S349C	DAB2IP_uc004blo.2_Missense_Mutation_p.S253C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	377	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GAGATGGCATCTGCCCTGGTG	0.622		NaN											0	0	0	1	0	12	38				
GOLGA2	2801	broad.mit.edu	37	9	131030767	131030767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131030767C>T	uc011maw.1	-	3	257	c.244G>A	c.(244-246)GAT>AAT	p.D82N	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	82	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACGGTGTCATCAGATGGTTGT	0.592		NaN											0	0	0	1	0	11	35				
ODF2	4957	broad.mit.edu	37	9	131258398	131258398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131258398C>G	uc011mbd.1	+	18	2301	c.1990C>G	c.(1990-1992)CTG>GTG	p.L664V	ODF2_uc004bvb.2_Missense_Mutation_p.L640V|ODF2_uc011mbe.1_Missense_Mutation_p.L659V|ODF2_uc004bvc.2_Missense_Mutation_p.L640V|ODF2_uc004bvd.3_Missense_Mutation_p.L664V|ODF2_uc004bvh.2_Missense_Mutation_p.L18V	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	664	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ACAGCTGAGTCTGAAGGTGGA	0.483		NaN											0	0	0	1	0	23	82				
ZER1	10444	broad.mit.edu	37	9	131515056	131515056	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131515056G>A	uc004bwa.1	-	5	1252	c.819C>T	c.(817-819)CTC>CTT	p.L273L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	273					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TCTGCACAAAGAGGCTCAGCA	0.557		NaN											0	0	0	1	0	13	70				
C9orf50	375759	broad.mit.edu	37	9	132375791	132375791	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132375791C>G	uc004byc.3	-	5	1168	c.966G>C	c.(964-966)GAG>GAC	p.E322D	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	322										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				TGGGCAAACTCTCCAGCCGTT	0.632		NaN											0	0	0	1	0	32	84				
TOR1A	1861	broad.mit.edu	37	9	132584879	132584879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132584879G>C	uc004byl.2	-	2	502	c.425C>G	c.(424-426)TCA>TGA	p.S142*	TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Nonsense_Mutation_p.S142*	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	142					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				GGTGATGTTTGAAGCATGTGG	0.463		NaN											0	0	0	1	0	14	67				
LAMC3	10319	broad.mit.edu	37	9	133948211	133948211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:133948211C>T	uc004caa.1	+	19	3504	c.3406C>T	c.(3406-3408)CTC>TTC	p.L1136F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1136	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCTGCCATTCTCGCGTCTCT	0.453		NaN											0	0	0	1	0	5	18				
GTF3C4	9329	broad.mit.edu	37	9	135553634	135553634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135553634G>C	uc010mzv.2	+	2	886	c.628G>C	c.(628-630)GAG>CAG	p.E210Q	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	210					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGACCTGACTGAGATCTATGG	0.507		NaN											0	0	0	1	0	19	66				
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135778026C>T	uc004cca.2	-	18	2591	c.2357G>A	c.(2356-2358)CGA>CAA	p.R786Q	TSC1_uc004ccb.3_Missense_Mutation_p.R785Q|TSC1_uc011mcq.1_Missense_Mutation_p.R735Q|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	786	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	39	141		Valid		
RALGDS	5900	broad.mit.edu	37	9	136004577	136004577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136004577G>C	uc004ccr.2	-	1	212	c.129C>G	c.(127-129)CTC>CTG	p.L43L	RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGGCTTTGGAGAGCGGCAC	0.687		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								0	0	0	1	0	4	19				
MED22	6837	broad.mit.edu	37	9	136213407	136213407	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136213407G>C	uc004cdc.2	-	2	345	c.111C>G	c.(109-111)ATC>ATG	p.I37M	MED22_uc004cdd.2_Missense_Mutation_p.I37M|RPL7A_uc004cde.1_5'Flank|SNORD24_uc010nah.2_5'Flank|RPL7A_uc004cdf.1_5'Flank	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	37					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGCGGTCTTGATGATCTCGG	0.597		NaN											0	0	0	1	0	33	80				
GLT6D1	360203	broad.mit.edu	37	9	138516451	138516451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:138516451C>T	uc010nbd.1	-	5	577	c.323G>A	c.(322-324)CGA>CAA	p.R108Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	108	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GAAGATCACTCGGTAGCCTGT	0.493		NaN											0	0	0	1	0	21	63				
NOTCH1	4851	broad.mit.edu	37	9	139396271	139396271	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139396271G>A	uc004chz.2	-	30	5567	c.5567C>T	c.(5566-5568)TCT>TTT	p.S1856F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1856	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCATGGCAGACATGCGCAG	0.652		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	1	0	14	47				
ABCA2	20	broad.mit.edu	37	9	139906347	139906347	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139906347G>A	uc011mem.1	-	34	5629	c.5481C>T	c.(5479-5481)GTC>GTT	p.V1827V	ABCA2_uc011mel.1_Silent_p.V1828V|ABCA2_uc004ckl.1_Silent_p.V1758V|ABCA2_uc004ckm.1_Silent_p.V1858V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1827					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCAGCCGCTGACAAACTGCA	0.627		NaN											0	0	0	1	0	8	25				
GRIN1	2902	broad.mit.edu	37	9	140051410	140051410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140051410G>C	uc004clk.2	+	6	1219	c.889G>C	c.(889-891)GAG>CAG	p.E297Q	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E294Q|GRIN1_uc004cll.2_Missense_Mutation_p.E297Q|GRIN1_uc004clm.2_Missense_Mutation_p.E297Q|GRIN1_uc004cln.2_Missense_Mutation_p.E315Q|GRIN1_uc004clo.2_Missense_Mutation_p.E315Q	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	297	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGAGCTCCTCGAGAAGGAGAA	0.682		NaN											0	0	0	1	0	13	26				
ANAPC2	29882	broad.mit.edu	37	9	140075251	140075251	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140075251G>A	uc004clr.1	-	8	1672	c.1599C>T	c.(1597-1599)TTC>TTT	p.F533F	ANAPC2_uc004clq.1_Silent_p.F389F	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCTCGGGGCTGAAGCTGAACT	0.662		NaN											0	0	0	1	0	25	67				
SLC34A3	142680	broad.mit.edu	37	9	140130619	140130619	+	Silent	SNP	C	C	T	rs139559169		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140130619C>T	uc004cmf.1	+	13	1737	c.1551C>T	c.(1549-1551)GTC>GTT	p.V517V	SLC34A3_uc011met.1_Silent_p.V517V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	517	Helical; Name=M8; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGCTGTCGGGGGTCCCC	0.726		NaN									OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	7	31				
PNPLA7	375775	broad.mit.edu	37	9	140437939	140437939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140437939C>G	uc004cnf.2	-	5	713	c.376G>C	c.(376-378)GAC>CAC	p.D126H	PNPLA7_uc010ncj.1_Missense_Mutation_p.D151H	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTCTTCACGTCAAACTCCGTG	0.597		NaN											0	0	0	1	0	43	106				
CSF2RA	1438	broad.mit.edu	37	X	1419439	1419439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1419439G>C	uc010nct.2	+	11	1188	c.866G>C	c.(865-867)AGA>ACA	p.R289T	CSF2RA_uc011mhb.1_Missense_Mutation_p.R289T|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpo.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.R156T|CSF2RA_uc004cpp.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncv.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpr.2_Missense_Mutation_p.R289T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	289	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTGAGCCCAGAGCAAAACAC	0.448		NaN											0	0	0	1	0	29	101				
IL3RA	3563	broad.mit.edu	37	X	1499937	1499937	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1499937C>G	uc004cps.2	+	11	1351	c.1002C>G	c.(1000-1002)CTC>CTG	p.L334L	IL3RA_uc011mhd.1_Silent_p.L256L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	334	Cytoplasmic (Potential).|Box 1 motif.					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAGAGACTCTTTCCCCGCA	0.537		NaN											0	0	0	1	0	95	279				
SFRS17A	8227	broad.mit.edu	37	X	1719909	1719909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1719909G>A	uc004cqa.2	+	5	1706	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	504					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCACCCAGAGGCCGACGG	0.721		NaN											0	0	0	1	0	7	32				
ZBED1	9189	broad.mit.edu	37	X	2406874	2406874	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:2406874G>A	uc004cqg.2	-	2	2088	c.1887C>T	c.(1885-1887)GTC>GTT	p.V629V	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.V629V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	629						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTGGCGCTGACCACGTTGG	0.677		NaN											0	0	0	1	0	86	217				
ARHGAP6	395	broad.mit.edu	37	X	11157176	11157176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:11157176C>G	uc004cup.1	-	13	3605	c.2732G>C	c.(2731-2733)GGA>GCA	p.G911A	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G708A|ARHGAP6_uc004cun.1_Missense_Mutation_p.G731A	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	911					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TGCTTGGCCTCCCTGGTCCGT	0.716		NaN											0	0	0	1	0	18	6				
ASB11	140456	broad.mit.edu	37	X	15311338	15311338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:15311338C>G	uc004cwp.1	-	4	474	c.474G>C	c.(472-474)CAG>CAC	p.Q158H	ASB11_uc004cwo.1_Missense_Mutation_p.Q137H|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.Q141H	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	158	ANK 3.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					GCACCTCCAACTGGGCCTTGG	0.552		NaN											0	0	0	1	0	58	65				
SH3KBP1	30011	broad.mit.edu	37	X	19560286	19560286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19560286G>A	uc004czm.2	-	16	1965	c.1649C>T	c.(1648-1650)CCG>CTG	p.P550L	SH3KBP1_uc011mje.1_Missense_Mutation_p.P289L|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P312L|SH3KBP1_uc004czl.2_Missense_Mutation_p.P513L|SH3KBP1_uc010nfm.2_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	550					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CGGCTTGGGCGGCAGGGATGC	0.632		NaN											0	0	0	1	0	31	37				
SH3KBP1	30011	broad.mit.edu	37	X	19713821	19713821	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19713821C>G	uc004czm.2	-	5	745	c.429G>C	c.(427-429)AAG>AAC	p.K143N	SH3KBP1_uc004czl.2_Missense_Mutation_p.K106N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	143	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						ACATTCCAGTCTTCCCGTTGA	0.483		NaN											0	0	0	1	0	31	37				
FAM47C	442444	broad.mit.edu	37	X	37027545	37027545	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:37027545C>G	uc004ddl.1	+	1	1076	c.1062C>G	c.(1060-1062)CTC>CTG	p.L354L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	354										ovary(3)	3						TGTCCCATCTCTGCCCGGAAC	0.627		NaN											0	0	0	1	0	73	50				
TSPAN7	7102	broad.mit.edu	37	X	38525537	38525537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:38525537C>T	uc004deg.3	+	2	313	c.244C>T	c.(244-246)CGT>TGT	p.R82C	TSPAN7_uc011mkj.1_Missense_Mutation_p.R108C|TSPAN7_uc011mkk.1_Missense_Mutation_p.R99C|TSPAN7_uc004deh.2_5'UTR	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	82	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						TGCTACATGTCGTGGTAGCCC	0.418		NaN											0	0	0	1	0	11	23				
CDK16	5127	broad.mit.edu	37	X	47082968	47082968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:47082968G>A	uc004dho.2	+	2	408	c.12G>A	c.(10-12)ATG>ATA	p.M4I	CDK16_uc011mli.1_Missense_Mutation_p.M10I|CDK16_uc011mlj.1_Missense_Mutation_p.M4I|CDK16_uc011mlk.1_Missense_Mutation_p.M4I|CDK16_uc011mll.1_Missense_Mutation_p.M78I	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	4							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						TGGATCGGATGAAGAAGATCA	0.527		NaN											0	0	0	1	0	13	13				
GRIPAP1	56850	broad.mit.edu	37	X	48846411	48846411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:48846411G>A	uc004dly.1	-	9	730	c.695C>T	c.(694-696)TCC>TTC	p.S232F	GRIPAP1_uc004dlz.2_Missense_Mutation_p.S122F|GRIPAP1_uc004dma.2_Missense_Mutation_p.S179F	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	232	Potential.					early endosome				breast(2)|kidney(1)	3						CAGTTTCTCGGAGAGCTGGGG	0.338		NaN											0	0	0	1	0	6	5				
KDM5C	8242	broad.mit.edu	37	X	53222481	53222481	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:53222481G>T	uc004drz.2	-	26	4884	c.4351C>A	c.(4351-4353)CGG>AGG	p.R1451R	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R1450R|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GCCCGGCCCCGAGCCCGACTC	0.677		NaN	N|F|S		clear cell renal carcinoma								1	0	1.2644e-06	1	1.30368e-06	16	15				
SPIN3	169981	broad.mit.edu	37	X	57021092	57021092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:57021092C>G	uc010nkj.2	-	2	575	c.289G>C	c.(289-291)GAA>CAA	p.E97Q	SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E97Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	97					gamete generation					ovary(1)|central_nervous_system(1)	2						CTGTGAAGTTCCAATCCATAA	0.398		NaN											0	0	0	1	0	50	57				
HEPH	9843	broad.mit.edu	37	X	65390566	65390566	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:65390566C>G	uc011moz.1	+	2	223	c.163C>G	c.(163-165)CTG>GTG	p.L55V	HEPH_uc004dwn.2_Missense_Mutation_p.L55V|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Missense_Mutation_p.L55V|HEPH_uc011mpa.1_Missense_Mutation_p.L55V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	52	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAACCAGCCTCTGGACAGTGA	0.507		NaN											0	0	0	1	0	9	11				
STARD8	9754	broad.mit.edu	37	X	67938374	67938374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:67938374G>A	uc004dxa.2	+	5	1750	c.1378G>A	c.(1378-1380)GAG>AAG	p.E460K	STARD8_uc004dxb.2_Missense_Mutation_p.E540K|STARD8_uc004dxc.3_Missense_Mutation_p.E460K	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	460					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CTCCATGAATGAGGCTGAGGC	0.592		NaN											0	0	0	1	0	14	14				
MED12	9968	broad.mit.edu	37	X	70338683	70338683	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70338683C>G	uc004dyy.2	+	1	278	c.79C>G	c.(79-81)CAG>GAG	p.Q27E	MED12_uc011mpq.1_Missense_Mutation_p.Q27E|MED12_uc004dyz.2_Missense_Mutation_p.Q27E|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	27					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGTTTACCCTCAGGACCCCAA	0.677		NaN											0	0	0	1	0	12	14				
ZMYM3	9203	broad.mit.edu	37	X	70465551	70465551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70465551C>T	uc004dzh.1	-	17	2914	c.2827G>A	c.(2827-2829)GAG>AAG	p.E943K	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E943K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E931K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	943					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TCTAACTCCTCAGCCTCTGCA	0.547		NaN											0	0	0	1	0	10	12				
PHKA1	5255	broad.mit.edu	37	X	71915560	71915560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:71915560G>A	uc004eax.3	-	4	753	c.452C>T	c.(451-453)TCA>TTA	p.S151L	PHKA1_uc004eay.3_Missense_Mutation_p.S151L|PHKA1_uc011mqi.1_Missense_Mutation_p.S151L	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	151					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GTACTGACCTGAGGCAGTCAT	0.498		NaN											0	0	0	1	0	16	19				
POU3F4	5456	broad.mit.edu	37	X	82763834	82763834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:82763834G>A	uc004eeg.2	+	1	566	c.502G>A	c.(502-504)GAG>AAG	p.E168K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	168					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTGCTCCGAGAGCCCCCGGA	0.637		NaN											0	0	0	1	0	10	6				
RPS6KA6	27330	broad.mit.edu	37	X	83361413	83361413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:83361413C>T	uc004eej.1	-	15	1402	c.1325G>A	c.(1324-1326)CGA>CAA	p.R442Q	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R442Q|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R339Q	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	442	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						ATGTATGCATCGCTTGCAAAC	0.353		NaN											0	0	0	1	0	4	7				
RAB9B	51209	broad.mit.edu	37	X	103080330	103080330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:103080330C>T	uc004ell.1	-	3	670	c.385G>A	c.(385-387)GAG>AAG	p.E129K	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	129					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						TGCCTATCCTCTTTGTCTACC	0.433		NaN											0	0	0	1	0	94	87				
ZCCHC16	340595	broad.mit.edu	37	X	111698857	111698857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:111698857C>T	uc004epo.1	+	3	1342	c.901C>T	c.(901-903)CCG>TCG	p.P301S		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding|zinc ion binding			ovary(1)	1						TTCTCGAGCTCCGGCAACGAC	0.478		NaN											0	0	0	1	0	22	25				
ZCCHC12	170261	broad.mit.edu	37	X	117959628	117959628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:117959628C>G	uc004equ.2	+	4	894	c.421C>G	c.(421-423)CAA>GAA	p.Q141E		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cctacaagctcaaggggagaa	0		NaN											0	0	0	1	0	57	67				
CUL4B	8450	broad.mit.edu	37	X	119669775	119669775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:119669775G>C	uc004esw.2	-	18	2561	c.2124C>G	c.(2122-2124)TTC>TTG	p.F708L	CUL4B_uc010nqq.2_Missense_Mutation_p.F409L|CUL4B_uc004esv.2_Missense_Mutation_p.F690L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	708					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						AAAATGTCTTGAAAATCTCCT	0.348		NaN											0	0	0	1	0	43	26				
FMR1NB	158521	broad.mit.edu	37	X	147088242	147088242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:147088242C>T	uc004fcm.2	+	3	492	c.418C>T	c.(418-420)CAG>TAG	p.Q140*		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	140	P-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAAAATCAGGTGGCAAA	0.378		NaN											0	0	0	1	0	29	30				
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:149807437G>A	uc004fef.3	+	7	542	c.466G>A	c.(466-468)GAA>AAA	p.E156K	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.E119K|MTM1_uc011mxz.1_Missense_Mutation_p.E41K|MTM1_uc010nte.2_Missense_Mutation_p.E24K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	156					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348		NaN											0	0	0	1	0	23	27				
GABRA3	2556	broad.mit.edu	37	X	151358368	151358368	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:151358368C>A	uc010ntk.1	-	9	1217	c.977G>T	c.(976-978)AGA>ATA	p.R326I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	326					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAGGAATTTCTGGCACTGAT	0.458		NaN											1	0	1.66031e-10	1	1.73405e-10	20	29				
TREX2	11219	broad.mit.edu	37	X	152710201	152710201	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:152710201C>T	uc010nue.1	-	3	930	c.814G>A	c.(814-816)GAT>AAT	p.D272N	TREX2_uc010nud.1_Missense_Mutation_p.D230N|TREX2_uc011myp.1_Missense_Mutation_p.D230N|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	273					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTCATCAGGCGGCAAG	0.687		NaN						Editing_and_processing_nucleases					0	0	0	1	0	5	3				
UTY	7404	broad.mit.edu	37	Y	15478205	15478205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrY:15478205G>A	uc004fsx.1	-	10	1813	c.808C>T	c.(808-810)CTC>TTC	p.L270F	UTY_uc004fsy.2_Missense_Mutation_p.L270F|UTY_uc004fsz.2_Missense_Mutation_p.L270F	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	270	TPR 5.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GACTTTTGGAGATACTGAATA	0.368		NaN											0	0	0	1	0	12	22				
ZMYM1	79830	broad.mit.edu	37	1	35579714	35579714	+	Silent	SNP	A	A	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:35579714A>C	uc001bym.2	+	11	2431	c.2283A>C	c.(2281-2283)GTA>GTC	p.V761V	ZMYM1_uc001byn.2_Silent_p.V761V|ZMYM1_uc010ohu.1_Silent_p.V742V|ZMYM1_uc001byo.2_Silent_p.V401V|ZMYM1_uc009vut.2_Silent_p.V686V	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	761						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTAAAGAAGTAAAAGAACTCC	0.318		NaN											0	0	0	0.010729	0	12	34				
HECTD3	79654	broad.mit.edu	37	1	45475257	45475257	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:45475257C>T	uc009vxk.2	-	5	956	c.858G>A	c.(856-858)AAG>AAA	p.K286K	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Silent_p.K2K|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	286	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGGTGCCCTTCTTCATAGTAA	0.542		NaN											0	0	0	0.038395	0	18	88				
KCNA2	3737	broad.mit.edu	37	1	111147111	111147111	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:111147111C>T	uc001dzu.2	-	2	790	c.294G>A	c.(292-294)TTG>TTA	p.L98L	KCNA2_uc009wfv.1_Silent_p.L98L|KCNA2_uc009wfw.2_Silent_p.L98L	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	98						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CAGGTCGCCTCAATCGGCCCC	0.473		NaN											0	0	0	0.049695	0	21	65				
HMCN1	83872	broad.mit.edu	37	1	186107047	186107047	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:186107047C>T	uc001grq.1	+	89	14096	c.13867C>T	c.(13867-13869)CGG>TGG	p.R4623W	HMCN1_uc001grs.1_Missense_Mutation_p.R192W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4623	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCATGGTGGGCGGCCATGTGA	0.468		NaN											0	0	0	0.038395	0	19	92				
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr1:230391013G>A	uc010pwa.1	+	11	1131	c.1059G>A	c.(1057-1059)CCG>CCA	p.P353P	GALNT2_uc010pvy.1_Silent_p.P315P|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	353	Lumenal (Potential).|Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607		NaN											0	0	0	0.038395	0	18	103				
C11orf16	56673	broad.mit.edu	37	11	8947080	8947080	+	Silent	SNP	C	C	T	rs146836226	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:8947080C>T	uc001mhb.3	-	5	1258	c.1134G>A	c.(1132-1134)CAG>CAA	p.Q378Q	C11orf16_uc001mhc.3_Silent_p.Q378Q	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	378										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAGGCCACTCTGTCTCAGAG	0.547		NaN											0	0	0	0.043863	0	18	78				
NADSYN1	55191	broad.mit.edu	37	11	71195380	71195380	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:71195380G>T	uc001oqn.2	+	15	1468	c.1342G>T	c.(1342-1344)GAT>TAT	p.D448Y	NADSYN1_uc001oqo.2_Missense_Mutation_p.D188Y|NADSYN1_uc001oqp.2_Missense_Mutation_p.D77Y	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	448	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCTCAACATCGATCCAGCCGT	0.582		NaN											1	0	1.08611e-07	0.010729	1.14562e-07	9	54				
CCDC82	79780	broad.mit.edu	37	11	96117437	96117437	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:96117437C>A	uc009ywp.2	-	1	718	c.475G>T	c.(475-477)GAT>TAT	p.D159Y	CCDC82_uc009ywq.2_Missense_Mutation_p.D159Y|CCDC82_uc001pfx.3_Missense_Mutation_p.D159Y|CCDC82_uc009ywr.2_Missense_Mutation_p.D159Y|CCDC82_uc009yws.2_Missense_Mutation_p.D159Y	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	159							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTGTTGAGATCATTATCCTCT	0.343		NaN											1	0	6.36457e-07	0.021523	6.6226e-07	27	107				
HDAC7	51564	broad.mit.edu	37	12	48177866	48177866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr12:48177866C>T	uc010slo.1	-	25	3121	c.2926G>A	c.(2926-2928)GAT>AAT	p.D976N	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.D410N|HDAC7_uc001rqj.3_Missense_Mutation_p.D939N|HDAC7_uc001rqk.3_Missense_Mutation_p.D959N	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	937	Interaction with SIN3A (By similarity).|Nuclear export signal (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CATTACCTATCTTCAGCCAGG	0.627		NaN											0	0	0	0.038147	0	7	44				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493		NaN											0	0	0	0.048971	0	19	173				
OR4N5	390437	broad.mit.edu	37	14	20612277	20612277	+	Missense_Mutation	SNP	G	G	A	rs139546094		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr14:20612277G>A	uc010tla.1	+	1	383	c.383G>A	c.(382-384)CGG>CAG	p.R128Q		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCATCTGCCGGCCTTTACAC	0.488		NaN											0	0	0	0.074837	0	38	199				
BAZ1A	11177	broad.mit.edu	37	14	35234031	35234031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr14:35234031C>G	uc001wsk.2	-	23	4226	c.3658G>C	c.(3658-3660)GAC>CAC	p.D1220H	BAZ1A_uc001wsl.2_Missense_Mutation_p.D1188H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1220					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CCCATACTGTCTTCCACATCT	0.264		NaN											0	0	0	0.028581	0	16	121				
EHD4	30844	broad.mit.edu	37	15	42193059	42193059	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr15:42193059G>A	uc001zot.2	-	6	1473	c.1410C>T	c.(1408-1410)GCC>GCT	p.A470A		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	470	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCCTTCTTGGCGTTGACAC	0.582		NaN											0	0	0	0.020292	0	14	59				
MBD1	4152	broad.mit.edu	37	18	47800573	47800573	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr18:47800573A>G	uc010dow.1	-	11	1566	c.1129T>C	c.(1129-1131)TGC>CGC	p.C377R	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.C327R|MBD1_uc010xdi.1_Missense_Mutation_p.C428R|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.C377R|MBD1_uc002lei.3_Missense_Mutation_p.C377R|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.C328R|MBD1_uc002lel.3_Missense_Mutation_p.C354R|MBD1_uc002lem.3_Missense_Mutation_p.C377R|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.C402R|MBD1_uc010dox.1_Missense_Mutation_p.C354R|MBD1_uc002leo.2_Missense_Mutation_p.C377R	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	377	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AACTGCAGGCATTGGCGCCAA	0.642		NaN											0	0	0	0.045705	0	29	105				
ZNF799	90576	broad.mit.edu	37	19	12491949	12491949	+	Missense_Mutation	SNP	T	T	C	rs11668955	by1000genomes	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:12491949T>C	uc002mts.3	-	4	593	c.127A>G	c.(127-129)ACC>GCC	p.T43A				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TAACTGAAGGTTTTCCAAAAT	0.403		NaN											0	0	0	0.004672	0	3	26				
ZNF799	90576	broad.mit.edu	37	19	12491955	12491955	+	Missense_Mutation	SNP	A	A	C	rs11668074	by1000genomes	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:12491955A>C	uc002mts.3	-	4	587	c.121T>G	c.(121-123)TGG>GGG	p.W41G				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AAGGTTTTCCAAAATTGTTTA	0.408		NaN											0	0	0	0.004672	0	3	26				
ZNF536	9745	broad.mit.edu	37	19	30935717	30935717	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:30935717C>T	uc002nsu.1	+	2	1386	c.1248C>T	c.(1246-1248)GGC>GGT	p.G416G	ZNF536_uc010edd.1_Silent_p.G416G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGCCCATGGGCGGCATGTCCC	0.627		NaN											0	0	0	0.016723	0	14	65				
SPIB	6689	broad.mit.edu	37	19	50927009	50927009	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:50927009G>T	uc002psd.2	+	5	512	c.487G>T	c.(487-489)GCA>TCA	p.A163S	SPIB_uc002pse.2_Splice_Site_p.E162_splice|SPIB_uc010ycc.1_Missense_Mutation_p.A72S	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	163					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGGATCCGAGGCAGGTATGCG	0.647		NaN											1	0	0.00116845	0.021553	0.00118382	6	12				
CEACAM18	729767	broad.mit.edu	37	19	51984784	51984784	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr19:51984784C>T	uc002pwv.1	+	4	721	c.721C>T	c.(721-723)CGG>TGG	p.R241W		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	241						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGTAGTGACCGGATGACAAT	0.502		NaN											0	0	0	0.024245	0	13	48				
NBAS	51594	broad.mit.edu	37	2	15542413	15542413	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:15542413T>C	uc002rcc.1	-	26	2976	c.2950A>G	c.(2950-2952)ATT>GTT	p.I984V	NBAS_uc010exl.1_Missense_Mutation_p.I56V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	984										ovary(2)|liver(1)|skin(1)	4						TCAGGAATAATTTTTTGCTGC	0.348		NaN											0	0	0	0.021553	0	6	66				
SMEK2	57223	broad.mit.edu	37	2	55792049	55792049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:55792049C>G	uc002rzc.2	-	14	2439	c.2064G>C	c.(2062-2064)CAG>CAC	p.Q688H	SMEK2_uc002rzb.2_Missense_Mutation_p.Q603H|SMEK2_uc002rzd.2_Missense_Mutation_p.Q656H|SMEK2_uc002ryz.2_Missense_Mutation_p.Q122H|SMEK2_uc002rza.2_Missense_Mutation_p.Q479H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	688						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTCAGTTTCTGATTTTGTC	0.308		NaN											0	0	0	0.038147	0	8	37				
CNTNAP5	129684	broad.mit.edu	37	2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr2:125521571G>A	uc002tno.2	+	16	2741	c.2377G>A	c.(2377-2379)GTC>ATC	p.V793I	CNTNAP5_uc010flu.2_Missense_Mutation_p.V794I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	793	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428		NaN											0	0	0	0.010729	0	10	81				
FLRT3	23767	broad.mit.edu	37	20	14306771	14306771	+	Missense_Mutation	SNP	C	C	T	rs147588771		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr20:14306771C>T	uc002wov.1	-	3	1849	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R461H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	461	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTACTCACTGCGTTCCCCTGT	0.463		NaN											0	0	0	0.010729	0	12	147				
MN1	4330	broad.mit.edu	37	22	28195117	28195117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr22:28195117G>A	uc003adj.2	-	1	2370	c.1415C>T	c.(1414-1416)TCG>TTG	p.S472L		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	472							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GCCGTTCCACGAAGCGCAGCG	0.662		NaN	T	ETV6	AML|meningioma								0	0	0	0.058154	0	9	34				
EP300	2033	broad.mit.edu	37	22	41566487	41566487	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr22:41566487A>G	uc003azl.3	+	27	4759	c.4364A>G	c.(4363-4365)CAG>CGG	p.Q1455R		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1455					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CCTCCTGACCAGAAGATACCC	0.448		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.055883	0	21	95		Valid		
TOP2B	7155	broad.mit.edu	37	3	25686873	25686873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:25686873C>T	uc011awn.1	-	2	201	c.158G>A	c.(157-159)AGA>AAA	p.R53K	TOP2B_uc003cdj.2_Missense_Mutation_p.R48K	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	53					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						CTGATACACTCTCTCAACAGA	0.358		NaN											0	0	0	0.0333	0	18	46				
RRP9	9136	broad.mit.edu	37	3	51967533	51967533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:51967533C>T	uc003dbw.1	-	15	1456	c.1417G>A	c.(1417-1419)GCT>ACT	p.A473T		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	473					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CAGGAACCAGCAGCTGGGGGT	0.527		NaN											0	0	0	0.047766	0	8	27				
GTF2E1	2960	broad.mit.edu	37	3	120469446	120469446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:120469446G>A	uc003edz.3	+	2	161	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	GTF2E1_uc003edy.2_Missense_Mutation_p.R16Q	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	16	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GCATTGAAGCGGTTAGCCAAG	0.433		NaN											0	0	0	0.02938	0	6	110				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.024245	0	10	17				
SH3TC1	54436	broad.mit.edu	37	4	8230053	8230053	+	Missense_Mutation	SNP	C	C	T	rs116515695	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:8230053C>T	uc003gkv.3	+	12	2733	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W	SH3TC1_uc003gkw.3_Missense_Mutation_p.R802W|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	878	TPR 5.						binding			large_intestine(2)|pancreas(1)	3						GAGGACGGGCCGGACGAGGCA	0.677		NaN											0	0	0	0.009096	0	4	64				
C4orf17	84103	broad.mit.edu	37	4	100458840	100458840	+	Silent	SNP	C	C	G	rs34271979	byFrequency	TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:100458840C>G	uc003huw.2	+	6	884	c.561C>G	c.(559-561)CTC>CTG	p.L187L	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	187											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGGCAAAGCTCTGTAGCATTT	0.373		NaN											0	0	0	0.02938	0	7	69				
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:104640578G>A	uc003hxe.1	-	1	398	c.255C>T	c.(253-255)ATC>ATT	p.I85I		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	85	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647		NaN											0	0	0	0.047766	0	7	93				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr4:153247289G>C	uc003ims.2	-	10	1662	c.1513C>G	c.(1513-1515)CGC>GGC	p.R505G	FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	505	WD 4.		R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.01892	0	24	102		Valid		
TRIO	7204	broad.mit.edu	37	5	14485268	14485268	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr5:14485268A>G	uc003jff.2	+	47	6754	c.6748A>G	c.(6748-6750)ATT>GTT	p.I2250V	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899V	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2250	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGAGACCTTCATTTTGCATTC	0.403		NaN											0	0	0	0.055883	0	20	135				
EHMT2	10919	broad.mit.edu	37	6	31854612	31854612	+	Silent	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:31854612C>T	uc003nxz.1	-	17	2191	c.2181G>A	c.(2179-2181)GTG>GTA	p.V727V	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V518V|EHMT2_uc011don.1_Silent_p.V750V|EHMT2_uc003nya.1_Silent_p.V693V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	727	ANK 3.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGTGGTTGTTCACCACGGCCT	0.637		NaN											0	0	0	0.034045	0	27	170				
EHMT2	10919	broad.mit.edu	37	6	31855596	31855596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:31855596C>T	uc003nxz.1	-	14	1898	c.1888G>A	c.(1888-1890)GAG>AAG	p.E630K	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.E421K|EHMT2_uc011don.1_Missense_Mutation_p.E653K|EHMT2_uc003nya.1_Missense_Mutation_p.E596K	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	630					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						TCCAGGGCCTCCCGGCCTGGC	0.662		NaN											0	0	0	0.055883	0	20	142				
ZBTB9	221504	broad.mit.edu	37	6	33423481	33423481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:33423481G>C	uc003oeq.2	+	2	872	c.604G>C	c.(604-606)GAA>CAA	p.E202Q		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGGGAAGTGAACTGGGAGA	0.443		NaN											0	0	0	0.049695	0	19	106				
ADAT2	134637	broad.mit.edu	37	6	143755111	143755111	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:143755111C>A	uc003qjj.2	-	3	255	c.209G>T	c.(208-210)CGA>CTA	p.R70L	ADAT2_uc003qjk.1_RNA	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	deaminase domain containing 1	70					tRNA processing		hydrolase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TTCTGCATGTCGAGTAGCCTG	0.423		NaN											1	0	7.87624e-14	0.076483	8.66387e-14	22	146				
KATNA1	11104	broad.mit.edu	37	6	149954043	149954044	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr6:149954043_149954044CC>TT	uc003qmr.1	-	2	216_217	c.171_172GG>AA	c.(169-174)CAGGAA>CAAAAA	p.E58K	KATNA1_uc003qms.2_Missense_Mutation_p.E58K|KATNA1_uc003qmt.2_Missense_Mutation_p.E58K|KATNA1_uc011eed.1_Missense_Mutation_p.E58K	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	58	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ACATTTATTTCCTGCCAAACCT	0.356		NaN											0	0	0	0.004672	0	6	74				
ABCB5	340273	broad.mit.edu	37	7	20691117	20691117	+	Silent	SNP	A	A	G			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:20691117A>G	uc003suw.3	+	4	618	c.72A>G	c.(70-72)CAA>CAG	p.Q24Q	ABCB5_uc010kuh.2_Silent_p.Q469Q|ABCB5_uc003suv.3_Silent_p.Q24Q|ABCB5_uc011jyi.1_Silent_p.Q24Q	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	24	ABC transporter 1.|Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TGGTTAGTCAAGAGCCTGTTT	0.438		NaN											0	0	0	0.076483	0	24	96				
ZMIZ2	83637	broad.mit.edu	37	7	44802942	44802942	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:44802942C>A	uc003tlr.2	+	13	1913	c.1790C>A	c.(1789-1791)TCC>TAC	p.S597Y	ZMIZ2_uc003tlq.2_Missense_Mutation_p.S539Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.S571Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.S220Y|ZMIZ2_uc010kyj.2_Missense_Mutation_p.S119Y|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	597	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						ATCAAGGTGTCCCTGAAGTGC	0.592		NaN											1	0	1.66031e-10	0.021523	1.7756e-10	27	134				
CNTNAP2	26047	broad.mit.edu	37	7	147092873	147092873	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr7:147092873G>A	uc003weu.1	+	10	2186	c.1670_splice	c.e10+1	p.R557_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCATAGACAGGTAAATGATCT	0.398		NaN								HNSCC(39;0.1)			0	0	0	0.024245	0	15	117				
MYBL1	4603	broad.mit.edu	37	8	67514656	67514656	+	Silent	SNP	G	G	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:67514656G>A	uc003xwj.2	-	2	530	c.123C>T	c.(121-123)GAC>GAT	p.D41D	MYBL1_uc003xwl.2_Silent_p.D41D|MYBL1_uc003xwk.2_Silent_p.D41D	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	41	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAATTACCTCGTCCCTTGTCC	0.308		NaN											0	0	0	0.028581	0	14	54				
TP53INP1	94241	broad.mit.edu	37	8	95952380	95952380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:95952380C>T	uc003yhg.2	-	3	565	c.181G>A	c.(181-183)GAG>AAG	p.E61K	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E61K	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	61	Glu-rich.				apoptosis	PML body					0	Breast(36;8.75e-07)					GAAGGGTGCTCAGTAGGTGAC	0.463		NaN											0	0	0	0.028581	0	17	43				
TIMM17B	10245	broad.mit.edu	37	X	48752377	48752377	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chrX:48752377C>T	uc004dlc.1	-	4	283	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.R95Q|TIMM17B_uc004dlb.1_Missense_Mutation_p.R65Q	NM_005834	NP_005825	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17	45					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CAACCGGTGCCGAATTCCCTG	0.547		NaN											0	0	0	0.014758	0	5	14				
MAGEC1	9947	broad.mit.edu	37	X	140995948	140995948	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chrX:140995948C>T	uc004fbt.2	+	4	3044	c.2758C>T	c.(2758-2760)CTC>TTC	p.L920F	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	920	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCGGTTTCTTCTCCTCAAATA	0.483		NaN								HNSCC(15;0.026)			0	0	0	0.048971	0	75	278				
SH2D1B	117157	broad.mit.edu	37	1	162368847	162368847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr1:162368847G>C	uc001gbz.1	-	3	351	c.229C>G	c.(229-231)CCA>GCA	p.P77A	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	SH2 domain containing 1B	77	SH2.									pancreas(1)	1	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTAGGCTTGGAAAGACCTGT	0.408		NaN											0	0	0	0.021553	0	5	60				
KL	9365	broad.mit.edu	37	13	33628236	33628236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr13:33628236G>A	uc001uus.2	+	2	1160	c.1152G>A	c.(1150-1152)ATG>ATA	p.M384I	KL_uc001uur.1_Missense_Mutation_p.M77I	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	384	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACCCTCACATGAAGTTCCGCC	0.403		NaN											0	0	0	0.105934	0	11	236				
ZP2	7783	broad.mit.edu	37	16	21210985	21210985	+	Silent	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr16:21210985G>A	uc002dii.2	-	16	1833	c.1833C>T	c.(1831-1833)GTC>GTT	p.V611V	ZP2_uc010bwn.1_Silent_p.V641V	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	611	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		AGTGGAAGTAGACCTGGAGAC	0.507		NaN											0	0	0	0.150653	0	4	45				
FAM83C	128876	broad.mit.edu	37	20	33879832	33879832	+	Silent	SNP	G	G	A	rs138645862		TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr20:33879832G>A	uc010zux.1	-	1	394	c.276C>T	c.(274-276)AGC>AGT	p.S92S	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	92										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTGAGCCTCGCTGAGCTCAG	0.662		NaN											0	0	0	0.021553	0	6	43				
GATSL3	652968	broad.mit.edu	37	22	30685448	30685448	+	Silent	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr22:30685448C>G	uc003ahd.2	-	1	169	c.39G>C	c.(37-39)CTG>CTC	p.L13L	GATSL3_uc003ahc.2_Silent_p.L13L|GATSL3_uc003ahe.2_Silent_p.L13L|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'UTR|GATSL3_uc010gvs.2_5'UTR	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	13										breast(1)	1						GGGCGACGCTCAGCACCCGCA	0.736		NaN											0	0	0	0.115264	0	2	5				
RBM5	10181	broad.mit.edu	37	3	50155783	50155783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:50155783G>C	uc003cyg.2	+	25	2490	c.2342G>C	c.(2341-2343)GGA>GCA	p.G781A	RBM5_uc011bdk.1_Missense_Mutation_p.G609A|RBM5_uc003cyh.2_Missense_Mutation_p.G238A|uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	781	G-patch.|Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCTAAAGGGAGCTGGCCTA	0.572		NaN											0	0	0	0.115264	0	3	27				
ARL6	84100	broad.mit.edu	37	3	97506888	97506888	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:97506888G>C	uc003drv.2	+	7	717	c.404G>C	c.(403-405)AGA>ACA	p.R135T	ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R135T|ARL6_uc010hoy.2_Missense_Mutation_p.R135T	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	135					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATGGATCTTAGAGATGCAGTG	0.318		NaN							Bardet-Biedl_syndrome				0	0	0	0.150653	0	4	57				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.09319	0	9	17				
GPR87	53836	broad.mit.edu	37	3	151011992	151011992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:151011992C>G	uc003eyt.2	-	3	1403	c.1042G>C	c.(1042-1044)GAA>CAA	p.E348Q	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	348	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCGAACTTCCGATCTTCTC	0.338		NaN											0	0	0	0.105934	0	13	161				
GPR87	53836	broad.mit.edu	37	3	151012106	151012106	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:151012106C>G	uc003eyt.2	-	3	1289	c.928G>C	c.(928-930)GAT>CAT	p.D310H	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	310	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTATTGGATCCAGGCAAACA	0.343		NaN											0	0	0	0.09319	0	13	128				
MUC4	4585	broad.mit.edu	37	3	195505813	195505814	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:195505813_195505814TC>CT	uc011bto.1	-	3	12713_12714	c.12253_12254GA>AG	c.(12253-12255)GAC>AGC	p.D4085S	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGGA	0.594		NaN											0	0	0	0.115264	0	3	2				
WDFY3	23001	broad.mit.edu	37	4	85617303	85617303	+	Silent	SNP	T	T	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr4:85617303T>C	uc003hpd.2	-	58	9129	c.8721A>G	c.(8719-8721)CTA>CTG	p.L2907L	WDFY3_uc003hpe.1_Silent_p.L518L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2907	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCACTCATGTAGATGGGCAC	0.413		NaN											0	0	0	0.038147	0	7	137				
PECI	10455	broad.mit.edu	37	6	4116175	4116175	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr6:4116175C>T	uc003mwf.2	-	10	1155	c.1118G>A	c.(1117-1119)GGA>GAA	p.G373E	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Missense_Mutation_p.G206E|PECI_uc003mwd.2_Missense_Mutation_p.G343E|PECI_uc003mwe.2_Missense_Mutation_p.G220E	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	373					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAGCCATCTTCCCTGAAGGAC	0.403		NaN											0	0	0	0.184627	0	5	59				
PARK2	5071	broad.mit.edu	37	6	161771157	161771157	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr6:161771157T>G	uc003qtx.3	-	12	1506	c.1372A>C	c.(1372-1374)ATG>CTG	p.M458L	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.M267L|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.M430L|PARK2_uc003qtz.3_Missense_Mutation_p.M309L|PARK2_uc011egf.1_Missense_Mutation_p.M132L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	458					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGGTCCCCCATGCAGACGCGG	0.622		NaN											0	0	0	0.115264	0	3	11				
NPSR1	387129	broad.mit.edu	37	7	34851409	34851409	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:34851409G>A	uc003teg.1	+	4	540	c.412G>A	c.(412-414)GTC>ATC	p.V138I	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V138I|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.V138I|NPSR1_uc010kww.1_Missense_Mutation_p.V127I|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	138	Helical; Name=3; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CTCTACCTACGTCCTGGTGTC	0.483		NaN											0	0	0	0.038147	0	6	98				
C7orf63	79846	broad.mit.edu	37	7	89938595	89938595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:89938595G>C	uc010lep.2	+	22	2820	c.2569G>C	c.(2569-2571)GAA>CAA	p.E857Q	C7orf63_uc011khj.1_Missense_Mutation_p.E839Q|C7orf63_uc011khk.1_Missense_Mutation_p.E373Q	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	857							binding			ovary(1)	1						AAGCCTTCAAGAAAAAGCTAT	0.294		NaN											0	0	0	0.021553	0	6	78				
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr8:102213962C>G	uc003yka.2	-	3	423	c.8G>C	c.(7-9)CGT>CCT	p.R3P	ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	3						intracellular	zinc ion binding	p.R3P(2)		ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398		NaN											0	0	0	0.069288	0	9	30				
ARHGEF16	27237	broad.mit.edu	37	1	3394482	3394482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:3394482G>C	uc001akg.3	+	11	1765	c.1517G>C	c.(1516-1518)GGA>GCA	p.G506A	ARHGEF16_uc001aki.2_Missense_Mutation_p.G218A|ARHGEF16_uc001akj.2_Missense_Mutation_p.G218A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.G210A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	506	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGCGCGGAGAGCTGTTC	0.592		NaN											0	0	0	1	0	25	46				
ERRFI1	54206	broad.mit.edu	37	1	8073944	8073944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8073944G>C	uc001aoz.2	-	4	964	c.715C>G	c.(715-717)CCA>GCA	p.P239A	ERRFI1_uc001apa.1_Missense_Mutation_p.P164A	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	239					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGAGGTGGAGGAGGATTT	0.468		NaN											0	0	0	1	0	6	44				
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8617577C>G	uc001ape.2	-	6	1338	c.528G>C	c.(526-528)AAG>AAC	p.K176N	RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	176	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438		NaN											0	0	0	1	0	23	59				
CTNNBIP1	56998	broad.mit.edu	37	1	9931317	9931317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:9931317C>G	uc001aqk.1	-	5	422	c.115G>C	c.(115-117)GAG>CAG	p.E39Q	CTNNBIP1_uc001aql.1_Missense_Mutation_p.E39Q	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	39					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGCAGGAACTCCTCCTCGCTG	0.652		NaN											0	0	0	1	0	2	2				
C1orf127	148345	broad.mit.edu	37	1	11008292	11008292	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11008292T>C	uc010oao.1	-	8	1458	c.1453A>G	c.(1453-1455)AGG>GGG	p.R485G	C1orf127_uc001arr.1_Missense_Mutation_p.R467G|C1orf127_uc001ars.1_Missense_Mutation_p.R459G	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	485										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCCCCTCCCTGGGGAGACCA	0.637		NaN											0	0	0	1	0	21	76				
TARDBP	23435	broad.mit.edu	37	1	11082329	11082329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082329G>A	uc001art.2	+	6	997	c.863G>A	c.(862-864)GGA>GAA	p.G288E	TARDBP_uc010oap.1_Missense_Mutation_p.G172E	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	288	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AATCAGGGTGGATTTGGTAAT	0.453		NaN											0	0	0	1	0	14	73				
TARDBP	23435	broad.mit.edu	37	1	11082344	11082344	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082344G>C	uc001art.2	+	6	1012	c.878G>C	c.(877-879)AGA>ACA	p.R293T	TARDBP_uc010oap.1_Missense_Mutation_p.R177T	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	293	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGTAATAGCAGAGGGGGTGGA	0.483		NaN											0	0	0	1	0	11	71				
CLCN6	1185	broad.mit.edu	37	1	11900229	11900229	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11900229C>T	uc001ate.3	+	23	2672	c.2559C>T	c.(2557-2559)CTC>CTT	p.L853L	CLCN6_uc010oat.1_Silent_p.L569L|CLCN6_uc010oau.1_Silent_p.L831L|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	853	CBS 2.|Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACAACCTCACCTATGAAT	0.587		NaN											0	0	0	1	0	39	88				
VPS13D	55187	broad.mit.edu	37	1	12446370	12446370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12446370G>A	uc001atv.2	+	60	11752	c.11611G>A	c.(11611-11613)GAA>AAA	p.E3871K	VPS13D_uc001atw.2_Missense_Mutation_p.E3846K|VPS13D_uc001atx.2_Missense_Mutation_p.E3058K|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3870					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCACATGCTTGAACTCAGCAT	0.428		NaN											0	0	0	1	0	46	93				
PRAMEF12	390999	broad.mit.edu	37	1	12836179	12836179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12836179C>T	uc001aui.2	+	2	808	c.781C>T	c.(781-783)CAG>TAG	p.Q261*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	261										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCACCTCTCAGTTCCTCAA	0.507		NaN											0	0	0	1	0	51	127				
PRAMEF11	440560	broad.mit.edu	37	1	12885303	12885303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12885303C>T	uc001auk.2	-	4	1004	c.808G>A	c.(808-810)GAC>AAC	p.D270N		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	270	LRR 3.										0						TGCTTCAAGTCTGATTCCAAA	0.468		NaN											0	0	0	1	0	114	300				
EPHA2	1969	broad.mit.edu	37	1	16459790	16459790	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16459790C>G	uc001aya.1	-	11	2075	c.1938G>C	c.(1936-1938)AAG>AAC	p.K646N		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	646	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).	ATP (By similarity).			activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCAGCGTCTTGATGGCCA	0.607		NaN											0	0	0	1	0	9	84				
FBXO42	54455	broad.mit.edu	37	1	16641900	16641900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16641900G>A	uc001ayg.2	-	2	230	c.14C>T	c.(13-15)TCA>TTA	p.S5L	FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S5L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	5										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCACTGTCCGAGGAGCTGGC	0.458		NaN											0	0	0	1	0	8	55				
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:18808297C>T	uc001bax.2	+	1	874	c.822C>T	c.(820-822)TTC>TTT	p.F274F	KLHDC7A_uc009vpg.2_Silent_p.F56F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	274						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCATTTCATACAGAAGG	0.592		NaN											0	0	0	1	0	21	133				
SH2D5	400745	broad.mit.edu	37	1	21048338	21048338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:21048338G>A	uc001bdt.1	-	9	1592	c.967C>T	c.(967-969)CTC>TTC	p.L323F	SH2D5_uc009vpy.1_Missense_Mutation_p.L407F|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	323											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701		NaN											0	0	0	1	0	5	22				
HSPG2	3339	broad.mit.edu	37	1	22157765	22157765	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22157765G>A	uc001bfj.2	-	84	11545	c.11505C>T	c.(11503-11505)CTC>CTT	p.L3835L	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.L3836L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3835	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGTGAGGTTGAGGTCATGGA	0.687		NaN											0	0	0	1	0	11	73				
CELA3A	10136	broad.mit.edu	37	1	22333440	22333440	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22333440C>A	uc001bfl.2	+	5	451	c.432C>A	c.(430-432)CTC>CTA	p.L144L		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	144	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCGCCTCACTCCCTCCCGCTG	0.617		NaN											1	0	0.00185496	1	0.00189251	14	95				
LUZP1	7798	broad.mit.edu	37	1	23418777	23418777	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:23418777C>T	uc001bgk.2	-	4	2362	c.1978G>A	c.(1978-1980)GAT>AAT	p.D660N	LUZP1_uc010odv.1_Missense_Mutation_p.D660N|LUZP1_uc001bgl.2_Missense_Mutation_p.D660N|LUZP1_uc001bgm.1_Missense_Mutation_p.D660N	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	660						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGTCATCATCTGAGTCTGGC	0.478		NaN											0	0	0	1	0	79	157				
CNR2	1269	broad.mit.edu	37	1	24201129	24201129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:24201129C>A	uc001bif.2	-	2	1106	c.979G>T	c.(979-981)GAG>TAG	p.E327*		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	327	Cytoplasmic (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TCTTTTGCCTCTGACCCAAGG	0.552		NaN											1	0	0.000308642	1	0.0003185	9	105				
RHCE	6006	broad.mit.edu	37	1	25717274	25717274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25717274G>A	uc001bkf.2	-	5	853	c.767C>T	c.(766-768)TCA>TTA	p.S256L	RHCE_uc001bkg.2_Missense_Mutation_p.S256L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.S240L	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	256	Helical; (Potential).					integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGGATGACCCTGAGAT	0.527		NaN											0	0	0	1	0	21	141				
MAN1C1	57134	broad.mit.edu	37	1	25944772	25944772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25944772G>A	uc001bkm.2	+	1	814	c.484G>A	c.(484-486)GAT>AAT	p.D162N	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	162	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGAGGGCCGATGAGAGTCA	0.652		NaN											0	0	0	1	0	5	15				
CNKSR1	10256	broad.mit.edu	37	1	26507029	26507029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26507029C>T	uc001bln.3	+	2	196	c.138C>T	c.(136-138)CTC>CTT	p.L46L	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L46L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	46	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAAGCCTCGAGGCTCTGG	0.622		NaN											0	0	0	1	0	28	66				
AIM1L	55057	broad.mit.edu	37	1	26650797	26650797	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26650797C>A	uc001bmd.3	-	17	1878	c.1448G>T	c.(1447-1449)CGG>CTG	p.R483L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	483							sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAAATAAACCCGGCGCTGGTG	0.637		NaN											1	0	0.00909568	1	0.00919788	4	25				
PTAFR	5724	broad.mit.edu	37	1	28477356	28477356	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:28477356G>A	uc001bpl.2	-	2	304	c.177C>T	c.(175-177)CTC>CTT	p.L59L	PTAFR_uc001bpm.3_Silent_p.L59L|PTAFR_uc009vte.2_Silent_p.L59L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	59	Helical; Name=2; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCATGGTGAGGTTCACCA	0.498		NaN											0	0	0	1	0	5	59				
MECR	51102	broad.mit.edu	37	1	29528545	29528545	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:29528545C>A	uc001brq.1	-	6	702	c.666G>T	c.(664-666)CAG>CAT	p.Q222H	MECR_uc001brp.1_Missense_Mutation_p.Q146H|MECR_uc001brr.1_Missense_Mutation_p.Q146H|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.Q146H|MECR_uc010ofz.1_Missense_Mutation_p.Q222H	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	222					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CACTCAGCTTCTGGATATCAG	0.512		NaN											1	0	3.66258e-25	1	4.23381e-25	78	217				
TXLNA	200081	broad.mit.edu	37	1	32660659	32660659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:32660659G>A	uc001bui.2	+	11	1569	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	TXLNA_uc001buj.2_Missense_Mutation_p.E502K	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	502					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642		NaN											0	0	0	1	0	23	26				
YARS	8565	broad.mit.edu	37	1	33245727	33245727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:33245727C>A	uc001bvy.1	-	11	2081	c.1293G>T	c.(1291-1293)ATG>ATT	p.M431I	YARS_uc001bvw.1_Missense_Mutation_p.M91I|YARS_uc001bvx.1_Missense_Mutation_p.M82I	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	431	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGACTCCTCTCATCTTCTGGG	0.577		NaN											1	0	0.00152264	1	0.00155472	22	140				
CSMD2	114784	broad.mit.edu	37	1	34034982	34034982	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:34034982C>G	uc001bxn.1	-	53	8158	c.8129G>C	c.(8128-8130)CGC>CCC	p.R2710P	CSMD2_uc001bxm.1_Missense_Mutation_p.R2708P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2710	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCAAGGCAGCGGACTTCAGA	0.522		NaN											0	0	0	1	0	11	44				
ZMYM1	79830	broad.mit.edu	37	1	35579630	35579630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:35579630C>G	uc001bym.2	+	11	2347	c.2199C>G	c.(2197-2199)TTC>TTG	p.F733L	ZMYM1_uc001byn.2_Missense_Mutation_p.F733L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F714L|ZMYM1_uc001byo.2_Missense_Mutation_p.F373L|ZMYM1_uc009vut.2_Missense_Mutation_p.F658L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	733						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAGAATTCAAGAAAGAAG	0.318		NaN											0	0	0	1	0	15	51				
TEKT2	27285	broad.mit.edu	37	1	36550615	36550615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36550615G>C	uc001bzr.2	+	2	220	c.93G>C	c.(91-93)CAG>CAC	p.Q31H	TEKT2_uc001bzs.2_5'UTR	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	tektin 2	31					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCAGCTGCAGCGAGATGCTT	0.617		NaN											0	0	0	1	0	9	64				
THRAP3	9967	broad.mit.edu	37	1	36766618	36766618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36766618C>G	uc001cae.3	+	10	2659	c.2435C>G	c.(2434-2436)TCA>TGA	p.S812*	THRAP3_uc001caf.3_Nonsense_Mutation_p.S812*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGACAAATCAAGACTGGGG	0.517		NaN	T	USP6	aneurysmal bone cysts								0	0	0	1	0	5	46				
CSF3R	1441	broad.mit.edu	37	1	36933439	36933439	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36933439C>T	uc001caw.1	-	14	2026	c.1848G>A	c.(1846-1848)CTG>CTA	p.L616L	CSF3R_uc001cat.1_Silent_p.L179L|CSF3R_uc009vvc.1_Silent_p.L145L|CSF3R_uc001cau.1_Silent_p.L16L|CSF3R_uc001cav.1_Silent_p.L616L|CSF3R_uc001cax.1_Silent_p.L616L|CSF3R_uc001cay.1_Silent_p.L616L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	616	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAAGGTCATCAGGGTGAGGA	0.602		NaN											0	0	0	1	0	20	81				
GNL2	29889	broad.mit.edu	37	1	38040350	38040350	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040350G>T	uc001cbk.2	-	11	1381	c.1218C>A	c.(1216-1218)ATC>ATA	p.I406I		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	406					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				ATGTTTTGCTGATATATTCTG	0.413		NaN											1	0	0.000673444	1	0.000690993	9	46				
GNL2	29889	broad.mit.edu	37	1	38040358	38040358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040358C>A	uc001cbk.2	-	11	1373	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	404					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				CTGATATATTCTGGCTTTGCT	0.403		NaN											1	0	1.58986e-06	1	1.6848e-06	9	51				
RHBDL2	54933	broad.mit.edu	37	1	39384788	39384788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39384788C>T	uc001ccu.1	-	2	325	c.97G>A	c.(97-99)GAT>AAT	p.D33N	RHBDL2_uc010oin.1_Missense_Mutation_p.D33N|RHBDL2_uc010oio.1_Missense_Mutation_p.D113N|RHBDL2_uc001ccv.2_Missense_Mutation_p.D33N	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	33					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCTCCCCCATCCTCTCTCATT	0.483		NaN											0	0	0	1	0	26	109				
KIAA0754	643314	broad.mit.edu	37	1	39876688	39876688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39876688G>A	uc009vvt.1	+	1	1513	c.751G>A	c.(751-753)GAA>AAA	p.E251K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	115											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAATGCAGGAATCCAGATT	0.502		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	37				
HPCAL4	51440	broad.mit.edu	37	1	40149690	40149690	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40149690C>T	uc001cdr.2	-	3	417	c.297G>A	c.(295-297)CAG>CAA	p.Q99Q	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	99	EF-hand 3.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGAGCTTCTGCTCGAAGC	0.657		NaN											0	0	0	1	0	13	47				
TRIT1	54802	broad.mit.edu	37	1	40323037	40323037	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40323037C>G	uc010oiz.1	-	2	241	c.227G>C	c.(226-228)AGA>ACA	p.R76T	TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	76					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGGCAGATTCTCTGCTCTTG	0.448		NaN											0	0	0	1	0	6	28				
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:42922574C>T	uc001chl.2	+	1	402	c.338C>T	c.(337-339)TCG>TTG	p.S113L	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647		NaN											0	0	0	1	0	20	87				
KIAA0467	23334	broad.mit.edu	37	1	43908528	43908528	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:43908528G>C	uc001cjk.1	+	44	5955	c.5493G>C	c.(5491-5493)GAG>GAC	p.E1831D		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2730						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGAAGTGGAGACCCTCATCC	0.612		NaN											0	0	0	1	0	25	112				
TMEM53	79639	broad.mit.edu	37	1	45140082	45140082	+	Translation_Start_Site	SNP	G	G	T	rs114472931	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:45140082G>T	uc001cmc.2	-	1	18	c.-18C>A	c.(-20--16)CTCTG>CTATG		TMEM53_uc001cmb.1_Translation_Start_Site|TMEM53_uc001cmd.2_Translation_Start_Site|TMEM53_uc009vxh.1_5'Flank|C1orf228_uc001cmf.2_5'Flank	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53							integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					CGCCGGCCCAGAGCACGGGTC	0.682		NaN											1	0	0.00909568	1	0.00919788	4	20				
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46159475G>T	uc001cor.1	+	3	838	c.642G>T	c.(640-642)CTG>CTT	p.L214L		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368		NaN											1	0	3.51602e-12	1	3.95199e-12	20	71				
C1orf190	541468	broad.mit.edu	37	1	46669164	46669164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46669164G>C	uc010oma.1	+	1	159	c.66G>C	c.(64-66)AAG>AAC	p.K22N	POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	22					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					TGGGCAGGAAGACCCCTGAAG	0.692		NaN											0	0	0	1	0	7	46				
LRRC41	10489	broad.mit.edu	37	1	46768814	46768814	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46768814G>A	uc001cpn.2	-	1	225	c.181C>T	c.(181-183)CTG>TTG	p.L61L	LRRC41_uc010omb.1_Silent_p.L61L|LRRC41_uc001cpo.1_Silent_p.L61L|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	61										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCGCTCTCCAGAACCCCCATA	0.567		NaN											0	0	0	1	0	3	3				
CYP4B1	1580	broad.mit.edu	37	1	47284418	47284418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:47284418C>T	uc001cqm.3	+	12	1552	c.1468C>T	c.(1468-1470)CTT>TTT	p.L490F	CYP4B1_uc001cqn.3_Missense_Mutation_p.L491F|CYP4B1_uc009vym.2_Missense_Mutation_p.L476F|CYP4B1_uc010omk.1_Missense_Mutation_p.L327F	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	490					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GATGCCCCAGCTTGTCCTGCG	0.577		NaN											0	0	0	1	0	27	96				
EPS15	2060	broad.mit.edu	37	1	51934202	51934202	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:51934202C>T	uc001csq.1	-	5	344	c.252G>A	c.(250-252)CAG>CAA	p.Q84Q	EPS15_uc009vyz.1_Silent_p.Q84Q	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	84	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						CCAATCCATTCTGGGCACATG	0.358		NaN	T	MLL	ALL								0	0	0	1	0	9	53				
ZCCHC11	23318	broad.mit.edu	37	1	52940569	52940569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940569C>A	uc001ctx.2	-	13	2896	c.2662G>T	c.(2662-2664)GAT>TAT	p.D888Y	ZCCHC11_uc001cty.2_Missense_Mutation_p.D888Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D888Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.D888Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.D647Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.D888Y	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	888					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGGTTATCATCATCATTAAGG	0.378		NaN											1	0	1.7881e-09	1	1.96769e-09	29	45				
ZCCHC11	23318	broad.mit.edu	37	1	52940929	52940929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940929C>T	uc001ctx.2	-	13	2536	c.2302G>A	c.(2302-2304)GAA>AAA	p.E768K	ZCCHC11_uc001cty.2_Missense_Mutation_p.E768K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E768K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E768K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E527K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E768K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	768					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAGTCCATTTCATCACATTGA	0.388		NaN											0	0	0	1	0	45	102				
ZCCHC11	23318	broad.mit.edu	37	1	52941053	52941053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941053C>G	uc001ctx.2	-	13	2412	c.2178G>C	c.(2176-2178)GAG>GAC	p.E726D	ZCCHC11_uc001cty.2_Missense_Mutation_p.E726D|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E726D|ZCCHC11_uc009vze.1_Missense_Mutation_p.E726D|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E485D|ZCCHC11_uc001cub.2_Missense_Mutation_p.E726D	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	726					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TTTTCCCCTTCTCTCTTTTCT	0.398		NaN											0	0	0	1	0	40	116				
ZCCHC11	23318	broad.mit.edu	37	1	52941062	52941062	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941062C>T	uc001ctx.2	-	13	2403	c.2169G>A	c.(2167-2169)AAG>AAA	p.K723K	ZCCHC11_uc001cty.2_Silent_p.K723K|ZCCHC11_uc001ctz.2_Silent_p.K723K|ZCCHC11_uc009vze.1_Silent_p.K723K|ZCCHC11_uc009vzf.1_Silent_p.K482K|ZCCHC11_uc001cub.2_Silent_p.K723K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	723					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TCTCTCTTTTCTTGAAATCCA	0.403		NaN											0	0	0	1	0	39	110				
YIPF1	54432	broad.mit.edu	37	1	54348950	54348950	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54348950C>T	uc001cvu.2	-	4	369	c.32_splice	c.e4-1	p.E11_splice	YIPF1_uc001cvv.2_Splice_Site|YIPF1_uc001cvw.2_Intron|YIPF1_uc001cvx.2_Splice_Site|YIPF1_uc001cvy.2_Splice_Site	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						TTGCCAAATTCTGAAATCAAT	0.453		NaN											0	0	0	1	0	7	34				
DIO1	1733	broad.mit.edu	37	1	54359913	54359913	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54359913G>A	uc010onx.1	+	1	53	c.30G>A	c.(28-30)CTG>CTA	p.L10L	DIO1_uc010onw.1_Silent_p.L10L|DIO1_uc009vzl.2_Silent_p.L10L|DIO1_uc001cwb.2_Silent_p.L10L|DIO1_uc010ony.1_Silent_p.L10L|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	10					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						GGCTGTGGCTGAAGAGGCTCT	0.587		NaN											0	0	0	1	0	12	48				
TTC22	55001	broad.mit.edu	37	1	55266753	55266753	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:55266753C>T	uc009vzt.1	-	1	189	c.84G>A	c.(82-84)GAG>GAA	p.E28E	TTC22_uc001cxz.3_Silent_p.E28E	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	28							binding				0						TCAACTGCATCTCCAGGTGAA	0.687		NaN											0	0	0	1	0	9	25				
JUN	3725	broad.mit.edu	37	1	59248200	59248200	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:59248200C>T	uc001cze.2	-	1	1586	c.543G>A	c.(541-543)CTG>CTA	p.L181L	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	181					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGCCGCTGCTCAGCGCGCCTG	0.746		NaN	A		sarcoma								0	0	0	1	0	3	5				
DOCK7	85440	broad.mit.edu	37	1	63003725	63003725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:63003725G>A	uc001daq.2	-	28	3342	c.3308C>T	c.(3307-3309)TCA>TTA	p.S1103L	DOCK7_uc001dan.2_Missense_Mutation_p.S964L|DOCK7_uc001dao.2_Missense_Mutation_p.S964L|DOCK7_uc001dap.2_Missense_Mutation_p.S1072L|DOCK7_uc001dam.2_Missense_Mutation_p.S283L|DOCK7_uc010oov.1_5'Flank	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1103					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						GTAAAGCTTTGAAGACACCTT	0.348		NaN											0	0	0	1	0	11	83				
DEPDC1	55635	broad.mit.edu	37	1	68948008	68948008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:68948008C>T	uc001dem.3	-	8	1600	c.1483G>A	c.(1483-1485)GAG>AAG	p.E495K	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	495					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACAACTCCTCTTGGTCTTGA	0.368		NaN											0	0	0	1	0	19	74				
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:74492542C>T	uc001dfy.3	-	8	2022	c.1830G>A	c.(1828-1830)GTG>GTA	p.V610V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610	Potential.									ovary(2)	2						AATTTGTTTTCACAATTGCTA	0.284		NaN											0	0	0	1	0	6	41				
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75065508C>T	uc001dgg.2	-	11	1816	c.1597G>A	c.(1597-1599)GAT>AAT	p.D533N	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D327N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	533	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCTTTTTTATCATCCAAAGGT	0.398		NaN											0	0	0	1	0	58	115				
TYW3	127253	broad.mit.edu	37	1	75198988	75198988	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75198988C>T	uc001dgn.2	+	1	149	c.60C>T	c.(58-60)CTC>CTT	p.L20L	CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Silent_p.L20L|TYW3_uc010oqx.1_Silent_p.L20L|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	20					tRNA processing		methyltransferase activity			ovary(2)	2						AAGCGGACCTCAGCCGGAAGG	0.572		NaN											0	0	0	1	0	11	27				
DDAH1	23576	broad.mit.edu	37	1	85787136	85787136	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:85787136C>G	uc001dlb.2	-	6	1018	c.857G>C	c.(856-858)TGA>TCA	p.*286S	DDAH1_uc001dlc.2_Nonstop_Mutation_p.*183S|uc001dla.1_Intron|DDAH1_uc010osb.1_Nonstop_Mutation_p.*186S|DDAH1_uc009wco.2_Nonstop_Mutation_p.*183S	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	286					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTCTGCAGCTCAGGAGTCTAC	0.532		NaN											0	0	0	1	0	12	43				
LMO4	8543	broad.mit.edu	37	1	87797934	87797934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:87797934G>C	uc001dmi.2	+	2	1016	c.236G>C	c.(235-237)AGG>ACG	p.R79T	LMO4_uc001dmj.2_Missense_Mutation_p.R79T	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	79	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACTACATTAGGTAAGACTTT	0.537		NaN											0	0	0	1	0	18	19				
ABCA4	24	broad.mit.edu	37	1	94496677	94496677	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:94496677C>G	uc001dqh.2	-	28	4233	c.4129_splice	c.e28-1	p.I1377_splice		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAGCACGATCTGTGGGAGAA	0.473		NaN											0	0	0	1	0	9	25				
HIAT1	64645	broad.mit.edu	37	1	100533744	100533744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:100533744C>G	uc001dst.2	+	6	698	c.698C>G	c.(697-699)CCT>CGT	p.P233R		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	233	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAAGCTGACCCTTTTGCGGTA	0.413		NaN											0	0	0	1	0	6	34				
COL11A1	1301	broad.mit.edu	37	1	103540254	103540254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:103540254C>T	uc001dul.2	-	4	889	c.571G>A	c.(571-573)GAT>AAT	p.D191N	COL11A1_uc001dum.2_Missense_Mutation_p.D191N|COL11A1_uc001dun.2_Missense_Mutation_p.D191N|COL11A1_uc009weh.2_Missense_Mutation_p.D191N	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	191	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACTTCTATCAAGTGGTTTC	0.368		NaN											0	0	0	1	0	21	37				
FAM102B	284611	broad.mit.edu	37	1	109103119	109103119	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109103119C>T	uc010ouy.1	+	1	149	c.69C>T	c.(67-69)TTC>TTT	p.F23F		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	23										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CAGTGCCCTTCGTCAATGGGG	0.607		NaN											0	0	0	1	0	8	33				
TAF13	6884	broad.mit.edu	37	1	109617651	109617651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109617651C>A	uc001dwm.1	-	2	119	c.64G>T	c.(64-66)GAA>TAA	p.E22*		NM_005645	NP_005636	Q15543	TAF13_HUMAN	TBP-associated factor 13	22					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity				0		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCCACCTTCTGCACCTCCT	0.294		NaN											1	0	9.39024e-22	1	1.08151e-21	41	239				
MAGI3	260425	broad.mit.edu	37	1	114226264	114226264	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114226264C>G	uc001edk.2	+	21	4255	c.4074C>G	c.(4072-4074)ATC>ATG	p.I1358M	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1383					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAAAAATCAAAAGAATGG	0.368		NaN											0	0	0	1	0	4	22				
DCLRE1B	64858	broad.mit.edu	37	1	114454730	114454730	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114454730C>T	uc001eeg.2	+	4	1687	c.1516C>T	c.(1516-1518)CTG>TTG	p.L506L	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Silent_p.L380L	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	506	TBM.			L->A: Abolishes interaction with TERF2.	cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATATCTTCTGACTCCAGT	0.498		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	1	0	26	129				
CASQ2	845	broad.mit.edu	37	1	116260464	116260464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:116260464G>A	uc001efx.3	-	8	1099	c.835C>T	c.(835-837)CCA>TCA	p.P279S	CASQ2_uc010owu.1_Missense_Mutation_p.P208S	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	279					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTACCTGGATCACTCTTC	0.453		NaN											0	0	0	1	0	18	110				
CD101	9398	broad.mit.edu	37	1	117564240	117564240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:117564240C>A	uc010oxb.1	+	7	2121	c.2063C>A	c.(2062-2064)TCC>TAC	p.S688Y	CD101_uc009whd.2_Missense_Mutation_p.S688Y|CD101_uc010oxc.1_Missense_Mutation_p.S688Y|CD101_uc010oxd.1_Missense_Mutation_p.S626Y	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	688	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAAGAGCTCTCCATCAACTCC	0.343		NaN											1	0	0.184627	1	0.184921	5	32				
HSD3B1	3283	broad.mit.edu	37	1	120054248	120054248	+	Missense_Mutation	SNP	G	G	A	rs6684974	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:120054248G>A	uc001ehv.1	+	3	413	c.268G>A	c.(268-270)GGT>AGT	p.G90S	HSD3B1_uc001ehw.2_Missense_Mutation_p.G92S	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	90					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGATGTCTTCGGTGTCACTCA	0.502		NaN											0	0	0	1	0	20	95				
PDE4DIP	9659	broad.mit.edu	37	1	144882612	144882612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:144882612G>A	uc001elw.3	-	24	3698	c.3407C>T	c.(3406-3408)CCA>CTA	p.P1136L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.P143L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1136					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGAGCTCTGGAGTAAGTTT	0.463		NaN	T	PDGFRB	MPD								0	0	0	1	0	53	312				
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:149871751G>T	uc001etf.2	+	2	260	c.139G>T	c.(139-141)GAG>TAG	p.E47*		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	47						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677		NaN											1	0	1.12685e-05	1	1.18122e-05	8	59				
C1orf51	148523	broad.mit.edu	37	1	150259019	150259019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259019C>T	uc001euh.2	+	6	947	c.811C>T	c.(811-813)CTC>TTC	p.L271F	C1orf51_uc001eui.2_Missense_Mutation_p.L183F|C1orf51_uc001euj.2_Missense_Mutation_p.L271F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	271											0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCCCCCTCTCAGCTCCCC	0.522		NaN											0	0	0	1	0	21	180				
C1orf51	148523	broad.mit.edu	37	1	150259021	150259021	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259021C>T	uc001euh.2	+	6	949	c.813C>T	c.(811-813)CTC>CTT	p.L271L	C1orf51_uc001eui.2_Silent_p.L183L|C1orf51_uc001euj.2_Silent_p.L271L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	271											0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCCCTCTCAGCTCCCCAG	0.527		NaN											0	0	0	1	0	16	185				
TARS2	80222	broad.mit.edu	37	1	150463082	150463082	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150463082C>G	uc001euq.2	+	4	400	c.393C>G	c.(391-393)TTC>TTG	p.F131L	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.F131L|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.F131L	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	131					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGGTGTTCTGGCACTCCA	0.488		NaN											0	0	0	1	0	22	125				
HORMAD1	84072	broad.mit.edu	37	1	150676602	150676602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150676602G>C	uc001evk.1	-	12	1046	c.940C>G	c.(940-942)CAT>GAT	p.H314D	HORMAD1_uc001evl.1_Missense_Mutation_p.H307D|HORMAD1_uc001evm.1_Missense_Mutation_p.H234D	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	314					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGAGAATGAGAAATAGAA	0.308		NaN											0	0	0	1	0	13	10				
SETDB1	9869	broad.mit.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150936790G>C	uc001evu.2	+	22	4016	c.3826G>C	c.(3826-3828)GAG>CAG	p.E1276Q	SETDB1_uc001evv.2_Missense_Mutation_p.E1275Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1276	Post-SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507		NaN											0	0	0	1	0	10	60				
PIP5K1A	8394	broad.mit.edu	37	1	151214948	151214948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151214948G>C	uc001exj.2	+	14	1997	c.1545G>C	c.(1543-1545)CAG>CAC	p.Q515H	PIP5K1A_uc001exi.2_Missense_Mutation_p.Q502H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.Q475H|PIP5K1A_uc001exk.2_Missense_Mutation_p.Q453H|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	515					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTACCTCAGACTCCACCTT	0.458		NaN											0	0	0	1	0	37	132				
ZNF687	57592	broad.mit.edu	37	1	151259814	151259814	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151259814C>T	uc001exq.2	+	2	1145	c.1047C>T	c.(1045-1047)GTC>GTT	p.V349V	ZNF687_uc001exp.1_Silent_p.V358V|ZNF687_uc009wmo.2_Silent_p.V349V|ZNF687_uc009wmp.2_Silent_p.V349V	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAACTCAGGTCCCCTCAGATC	0.562		NaN											0	0	0	1	0	39	60				
LINGO4	339398	broad.mit.edu	37	1	151773919	151773919	+	Missense_Mutation	SNP	C	C	T	rs143154971		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151773919C>T	uc001ezf.1	-	2	1452	c.1262G>A	c.(1261-1263)CGA>CAA	p.R421Q		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	421	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACCCATCGAGGCCCCGA	0.607		NaN											0	0	0	1	0	13	126				
TCHH	7062	broad.mit.edu	37	1	152083292	152083292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152083292C>A	uc001ezp.2	-	2	2401	c.2401G>T	c.(2401-2403)GAG>TAG	p.E801*	TCHH_uc009wne.1_Nonsense_Mutation_p.E801*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	801					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGCTCCTCGGCCCTCAGC	0.682		NaN											1	0	2.23348e-06	1	2.36288e-06	16	95				
FLG	2312	broad.mit.edu	37	1	152279889	152279889	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152279889A>C	uc001ezu.1	-	3	7509	c.7473T>G	c.(7471-7473)CAT>CAG	p.H2491Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGAGACCCTG	0.542		NaN							Ichthyosis				0	0	0	1	0	186	609				
NUP210L	91181	broad.mit.edu	37	1	154076593	154076593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154076593G>A	uc001fdw.2	-	13	1786	c.1714C>T	c.(1714-1716)CAC>TAC	p.H572Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H572Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	572						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATTTATGTGATACATTGCA	0.388		NaN											0	0	0	1	0	20	126				
ADAR	103	broad.mit.edu	37	1	154573729	154573729	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154573729C>T	uc001ffh.2	-	2	1589	c.1389G>A	c.(1387-1389)TTG>TTA	p.L463L	ADAR_uc001ffj.2_Silent_p.L463L|ADAR_uc001ffi.2_Silent_p.L463L|ADAR_uc001ffk.2_Silent_p.L168L|ADAR_uc001ffl.1_Silent_p.L168L	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	463					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGATACTATTCAAGTCATCTG	0.498		NaN											0	0	0	1	0	8	68				
TRIM46	80128	broad.mit.edu	37	1	155149435	155149435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155149435G>A	uc001fhs.1	+	4	780	c.697G>A	c.(697-699)GAG>AAG	p.E233K	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E220K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E233K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E107K|TRIM46_uc001fhu.1_Missense_Mutation_p.E210K|TRIM46_uc009wpg.1_Missense_Mutation_p.E220K|TRIM46_uc001fhv.3_Missense_Mutation_p.E220K|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	233	B box-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAAGGAAGAGGTGACCCA	0.557		NaN									OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	50	93				
RUSC1	23623	broad.mit.edu	37	1	155294700	155294700	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155294700G>A	uc001fkj.2	+	3	1651	c.1422G>A	c.(1420-1422)CAG>CAA	p.Q474Q	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.Q474Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.Q5Q|RUSC1_uc001fkl.2_Silent_p.Q64Q|RUSC1_uc001fkp.2_Silent_p.Q5Q|RUSC1_uc001fkq.2_Silent_p.Q5Q|RUSC1_uc010pgb.1_Silent_p.Q5Q|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_Intron|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Silent_p.Q5Q|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	474						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGAAGCCCAGAGTGGGACTG	0.642		NaN									OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	34	122				
FCRL2	79368	broad.mit.edu	37	1	157738293	157738293	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:157738293A>G	uc001fre.2	-	5	853	c.794T>C	c.(793-795)GTG>GCG	p.V265A	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V265A|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	265	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCTTTCACAGCTGGGAT	0.507		NaN											0	0	0	1	0	56	247				
CD1B	910	broad.mit.edu	37	1	158299235	158299235	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158299235C>A	uc001frx.2	-	4	919	c.811G>T	c.(811-813)GAT>TAT	p.D271Y	CD1B_uc001frw.2_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	271	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					GCCTCCCCATCTGCCACATCC	0.592		NaN											1	0	3.27435e-08	1	3.53832e-08	12	235				
SPTA1	6708	broad.mit.edu	37	1	158607885	158607885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158607885C>G	uc001fst.1	-	36	5326	c.5127G>C	c.(5125-5127)TTG>TTC	p.L1709F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1709	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGCCTCTTTCAATTTTTCGT	0.423		NaN											0	0	0	1	0	16	186				
OR6N2	81442	broad.mit.edu	37	1	158746673	158746673	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158746673G>A	uc010pir.1	-	1	753	c.753C>T	c.(751-753)TTC>TTT	p.F251F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TGCTCCCAAAGAAGATGAGGA	0.458		NaN											0	0	0	1	0	9	115				
KCNJ9	3765	broad.mit.edu	37	1	160054012	160054012	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:160054012C>T	uc001fuy.1	+	2	434	c.192C>T	c.(190-192)TTC>TTT	p.F64F		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	64	Helical; Name=M1; (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGTTCTTCGTCCTGGCCT	0.657		NaN											0	0	0	1	0	7	46				
PPOX	5498	broad.mit.edu	37	1	161138284	161138284	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161138284C>T	uc001fyj.2	+	6	824	c.534C>T	c.(532-534)CTC>CTT	p.L178L	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.L178L|PPOX_uc001fyl.2_Silent_p.L144L|PPOX_uc001fym.2_Intron|PPOX_uc001fyk.2_Silent_p.L16L|PPOX_uc001fyh.2_Silent_p.L16L|PPOX_uc010pkg.1_Silent_p.L16L|PPOX_uc009wuc.1_Silent_p.L16L|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Silent_p.L16L	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	178					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCGTGAGCTCAGCATCAGGT	0.542		NaN							Porphyria_Variegata				0	0	0	1	0	17	232				
PPOX	5498	broad.mit.edu	37	1	161139803	161139803	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161139803C>G	uc001fyj.2	+	9	1266	c.976C>G	c.(976-978)CTG>GTG	p.L326V	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L326V|PPOX_uc001fyl.2_Missense_Mutation_p.L292V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L164V|PPOX_uc001fyh.2_Missense_Mutation_p.L164V|PPOX_uc010pkg.1_Missense_Mutation_p.L164V|PPOX_uc009wuc.1_Missense_Mutation_p.L164V|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.L164V	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	326					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGAGCCCATCTGCCTGTCCA	0.383		NaN							Porphyria_Variegata				0	0	0	1	0	10	58				
PPOX	5498	broad.mit.edu	37	1	161140823	161140823	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161140823G>C	uc001fyj.2	+	13	1582	c.1292_splice	c.e13-1	p.E431_splice	PPOX_uc001fyn.2_Splice_Site_p.E139_splice|PPOX_uc001fyg.2_Splice_Site_p.E431_splice|PPOX_uc001fyl.2_Splice_Site_p.E397_splice|PPOX_uc001fym.2_Splice_Site|PPOX_uc001fyk.2_Splice_Site_p.E269_splice|PPOX_uc001fyh.2_Splice_Site_p.E269_splice|PPOX_uc010pkg.1_Splice_Site_p.E269_splice|PPOX_uc009wuc.1_Splice_Site_p.E232_splice|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTTCCAGAGTCAGCTAG	0.517		NaN							Porphyria_Variegata				0	0	0	1	0	35	350				
SDHC	6391	broad.mit.edu	37	1	161298268	161298268	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161298268C>A	uc001gag.2	+	3	190	c.160C>A	c.(160-162)CCC>ACC	p.P54T	SDHC_uc001gai.2_Missense_Mutation_p.P54T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	54	Mitochondrial matrix (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TCCTCTGTCTCCCCACATTAC	0.443		NaN	Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				1	0	3.35115e-56	1	3.90244e-56	122	75				
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:167815465G>A	uc001ger.2	-	20	2772	c.2474C>T	c.(2473-2475)TCC>TTC	p.S825F	ADCY10_uc009wvk.2_Missense_Mutation_p.S733F|ADCY10_uc010plj.1_Missense_Mutation_p.S672F|ADCY10_uc009wvl.2_Missense_Mutation_p.S824F	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	825					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CATTTGGTGGGAAAGTCTCAT	0.418		NaN											0	0	0	1	0	32	278				
PRDX6	9588	broad.mit.edu	37	1	173454569	173454569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173454569C>T	uc001giy.1	+	3	373	c.322C>T	c.(322-324)CGG>TGG	p.R108W		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						TGATAGGAATCGGGAGCTTGC	0.448		NaN											0	0	0	1	0	25	66				
SLC9A11	284525	broad.mit.edu	37	1	173486775	173486775	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173486775C>A	uc001giz.2	-	23	3231	c.2808G>T	c.(2806-2808)ATG>ATT	p.M936I	SLC9A11_uc009wwe.2_Missense_Mutation_p.M494I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	936	cNMP.				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ACTCTGTAAACATGTCTCTGG	0.403		NaN											1	0	3.27435e-08	1	3.53832e-08	15	123				
CEP350	9857	broad.mit.edu	37	1	179989239	179989239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989239C>G	uc001gnt.2	+	12	2713	c.2330C>G	c.(2329-2331)TCT>TGT	p.S777C	CEP350_uc009wxl.2_Missense_Mutation_p.S776C|CEP350_uc001gnu.2_Missense_Mutation_p.S611C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	777						centrosome|nucleus|spindle				ovary(4)	4						GATTTTGAATCTATTTTACCA	0.408		NaN											0	0	0	1	0	12	109				
CEP350	9857	broad.mit.edu	37	1	179989832	179989832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989832C>G	uc001gnt.2	+	12	3306	c.2923C>G	c.(2923-2925)CTT>GTT	p.L975V	CEP350_uc009wxl.2_Missense_Mutation_p.L974V|CEP350_uc001gnu.2_Missense_Mutation_p.L809V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	975						centrosome|nucleus|spindle				ovary(4)	4						CAAAATATCTCTTGGTTCCAG	0.473		NaN											0	0	0	1	0	23	145				
RGS16	6004	broad.mit.edu	37	1	182572430	182572430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:182572430G>A	uc001gpl.3	-	2	243	c.89C>T	c.(88-90)TCA>TTA	p.S30L	RGS16_uc010pnv.1_Missense_Mutation_p.S30L	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	30					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						GCCCAGCTCTGATTTGTGAAG	0.488		NaN											0	0	0	1	0	49	63				
LAMC1	3915	broad.mit.edu	37	1	183086694	183086694	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:183086694G>C	uc001gpy.3	+	10	1970	c.1713G>C	c.(1711-1713)TTG>TTC	p.L571F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	571	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCAGGTGTTGAGTTATGGTC	0.502		NaN											0	0	0	1	0	12	68				
HMCN1	83872	broad.mit.edu	37	1	186151338	186151338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:186151338G>A	uc001grq.1	+	105	16562	c.16333G>A	c.(16333-16335)GAG>AAG	p.E5445K	HMCN1_uc001grs.1_Missense_Mutation_p.E897K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5445	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTGCCAGCATGAGTGTAAGAA	0.423		NaN											0	0	0	1	0	41	81				
CFHR1	3078	broad.mit.edu	37	1	196797300	196797300	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196797300G>A	uc001gtn.2	+	4	645	c.531G>A	c.(529-531)AGG>AGA	p.R177R	CFHR1_uc001gtm.2_Silent_p.R81R	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	177	Sushi 3.				complement activation	extracellular space					0						ATGAATGTAGGAGCCCTTATG	0.393		NaN											0	0	0	1	0	19	31				
CFHR4	10877	broad.mit.edu	37	1	196883726	196883726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196883726G>T	uc001gto.2	+	4	610	c.541G>T	c.(541-543)GAA>TAA	p.E181*	CFHR4_uc009wyy.2_Nonsense_Mutation_p.E427*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E428*	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	181	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						CGATGGATATGAAATCAGTTA	0.388		NaN											1	0	1.02788e-11	1	1.15021e-11	16	60				
KIF14	9928	broad.mit.edu	37	1	200587334	200587334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587334G>C	uc010ppk.1	-	2	957	c.518C>G	c.(517-519)TCT>TGT	p.S173C	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	173	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GGCAACAAAAGAGTTTTTAGC	0.358		NaN											0	0	0	1	0	37	75				
KIF14	9928	broad.mit.edu	37	1	200587382	200587382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587382G>C	uc010ppk.1	-	2	909	c.470C>G	c.(469-471)TCT>TGT	p.S157C	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	157	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						ACTTTCCTTAGAAACACCATT	0.353		NaN											0	0	0	1	0	24	61				
CAMSAP1L1	23271	broad.mit.edu	37	1	200819297	200819297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200819297G>A	uc001gvl.2	+	12	3703	c.3433G>A	c.(3433-3435)GAT>AAT	p.D1145N	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.D1134N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.D1118N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1145						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGAAAAATATGATGGAGAAAG	0.373		NaN											0	0	0	1	0	26	110				
KIF21B	23046	broad.mit.edu	37	1	200954093	200954093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200954093C>T	uc001gvs.1	-	27	4014	c.3697G>A	c.(3697-3699)GAT>AAT	p.D1233N	KIF21B_uc001gvr.1_Missense_Mutation_p.D1233N|KIF21B_uc009wzl.1_Missense_Mutation_p.D1233N|KIF21B_uc010ppn.1_Missense_Mutation_p.D1233N	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1233					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AATCCCACATCTGTGGACCTG	0.612		NaN											0	0	0	1	0	8	40				
CACNA1S	779	broad.mit.edu	37	1	201030512	201030512	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201030512G>A	uc001gvv.2	-	25	3365	c.3138C>T	c.(3136-3138)ATC>ATT	p.I1046I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1046	III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGATGTAGATGATGAAGAAGA	0.517		NaN											0	0	0	1	0	13	54				
CACNA1S	779	broad.mit.edu	37	1	201035414	201035414	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201035414C>T	uc001gvv.2	-	21	2915	c.2688G>A	c.(2686-2688)CTG>CTA	p.L896L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	896	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGCACCCTCAGGATCTTCA	0.662		NaN											0	0	0	1	0	12	65				
LGR6	59352	broad.mit.edu	37	1	202272426	202272426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202272426G>T	uc001gxu.2	+	10	949	c.949G>T	c.(949-951)GAC>TAC	p.D317Y	LGR6_uc001gxv.2_Missense_Mutation_p.D265Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D178Y|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	317	LRR 10.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGTGCCATGGACATCCAGGA	0.502		NaN											1	0	5.35267e-07	1	5.71072e-07	17	62				
LGR6	59352	broad.mit.edu	37	1	202273726	202273726	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202273726G>C	uc001gxu.2	+	11	1038	c.1038G>C	c.(1036-1038)GGG>GGC	p.G346G	LGR6_uc001gxv.2_Silent_p.G294G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G207G|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	346	LRR 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TCCCATCGGGGATGTGCCAAC	0.632		NaN											0	0	0	1	0	6	40				
LGR6	59352	broad.mit.edu	37	1	202278242	202278242	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202278242G>A	uc001gxu.2	+	15	1344	c.1344G>A	c.(1342-1344)CTG>CTA	p.L448L	LGR6_uc001gxv.2_Silent_p.L396L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L309L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	448	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGATGCATCTGAAGCTCAAAG	0.567		NaN											0	0	0	1	0	5	51				
LGR6	59352	broad.mit.edu	37	1	202283965	202283965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202283965G>T	uc001gxu.2	+	17	1603	c.1603G>T	c.(1603-1605)GAG>TAG	p.E535*	LGR6_uc001gxv.2_Nonsense_Mutation_p.E483*|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Nonsense_Mutation_p.E396*	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	535	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GCTGGAGATGGAGGACTCAAA	0.572		NaN											1	0	0.00198382	1	0.0020207	7	30				
CDK18	5129	broad.mit.edu	37	1	205492313	205492313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:205492313G>T	uc001hcr.2	+	2	237	c.18G>T	c.(16-18)ATG>ATT	p.M6I	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_Intron|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.M6I|CDK18_uc001hcq.2_Missense_Mutation_p.M6I|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	4							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						TGAACAAGATGAAGAACTTTA	0.517		NaN											1	0	0.0477658	1	0.0481479	8	53				
CD46	4179	broad.mit.edu	37	1	207940986	207940986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:207940986G>C	uc001hgc.2	+	7	1047	c.891G>C	c.(889-891)TTG>TTC	p.L297F	CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_Intron|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_Intron|CD46_uc001hgj.2_Missense_Mutation_p.L297F|CD46_uc001hgk.2_Missense_Mutation_p.L297F|CD46_uc001hgl.2_Intron|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_Intron|CD46_uc001hgo.2_Missense_Mutation_p.L297F|CD46_uc001hgp.2_Intron	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	297	Extracellular (Potential).				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						CTCCAGCTTTGAGTCATTCAG	0.368		NaN											0	0	0	1	0	21	102				
IRF6	3664	broad.mit.edu	37	1	209964141	209964141	+	Silent	SNP	A	A	G	rs41303263	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:209964141A>G	uc001hhq.1	-	7	1022	c.759T>C	c.(757-759)TAT>TAC	p.Y253Y	IRF6_uc010psm.1_Silent_p.Y158Y|IRF6_uc009xct.1_Silent_p.Y253Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	253					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCAGGTCCCCATAGAAGAGTC	0.567		NaN								HNSCC(57;0.16)			0	0	0	1	0	6	74				
TATDN3	128387	broad.mit.edu	37	1	212965324	212965324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:212965324G>C	uc001hjo.2	+	1	155	c.61G>C	c.(61-63)GAC>CAC	p.D21H	NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D21H|TATDN3_uc010ptk.1_Missense_Mutation_p.D21H|TATDN3_uc001hjp.2_Missense_Mutation_p.D21H|TATDN3_uc010ptl.1_Missense_Mutation_p.D21H	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	21						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CCCGGACTTTGACCGCGTATG	0.657		NaN											0	0	0	1	0	6	18				
CENPF	1063	broad.mit.edu	37	1	214813365	214813365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214813365G>C	uc001hkm.2	+	12	1858	c.1684G>C	c.(1684-1686)GAT>CAT	p.D562H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	562	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCTGTGGCTGATCTGGAAAA	0.363		NaN											0	0	0	1	0	39	146				
CENPF	1063	broad.mit.edu	37	1	214826227	214826227	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214826227C>A	uc001hkm.2	+	16	8391	c.8217C>A	c.(8215-8217)CTC>CTA	p.L2739L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2835	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAATGTCTCAGTTCACAGA	0.328		NaN											1	0	8.00594e-06	1	8.41325e-06	17	72				
TP53BP2	7159	broad.mit.edu	37	1	223983917	223983917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983917G>T	uc010pvb.1	-	13	2616	c.2324C>A	c.(2323-2325)TCA>TAA	p.S775*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.S646*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.S8*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.S414*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	769					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GGATGGGTATGATGGGACAGA	0.478		NaN											1	0	6.12954e-19	1	7.0211e-19	25	126				
TP53BP2	7159	broad.mit.edu	37	1	223983926	223983926	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983926G>C	uc010pvb.1	-	13	2607	c.2315C>G	c.(2314-2316)TCT>TGT	p.S772C	TP53BP2_uc001hod.2_Missense_Mutation_p.S643C|TP53BP2_uc010puz.1_Missense_Mutation_p.S5C|TP53BP2_uc010pva.1_Missense_Mutation_p.S411C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	766					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGATGGGACAGAGATGGTCTC	0.468		NaN											0	0	0	1	0	25	115				
OBSCN	84033	broad.mit.edu	37	1	228495976	228495976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:228495976G>T	uc009xez.1	+	47	12675	c.12631G>T	c.(12631-12633)GAT>TAT	p.D4211Y	OBSCN_uc001hsn.2_Missense_Mutation_p.D4211Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4211	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGCTGTGCGGGATGGCCGCAT	0.632		NaN											1	0	4.36969e-10	1	4.83815e-10	13	16				
EXOC8	149371	broad.mit.edu	37	1	231472148	231472148	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231472148G>A	uc001huq.2	-	1	1431	c.1344C>T	c.(1342-1344)ATC>ATT	p.I448I		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	448					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488		NaN											0	0	0	1	0	15	67				
EXOC8	149371	broad.mit.edu	37	1	231473029	231473029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231473029C>T	uc001huq.2	-	1	550	c.463G>A	c.(463-465)GAG>AAG	p.E155K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	155					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTTCCTTCCTCGCCTGGACCG	0.677		NaN											0	0	0	1	0	12	19				
HEATR1	55127	broad.mit.edu	37	1	236744562	236744562	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:236744562C>T	uc001hyd.1	-	20	2840	c.2715G>A	c.(2713-2715)AAG>AAA	p.K905K	HEATR1_uc009xgh.1_Silent_p.K148K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	905					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACACTGTGTCTTCTGAGAAG	0.408		NaN											0	0	0	1	0	25	107				
RYR2	6262	broad.mit.edu	37	1	237872849	237872849	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:237872849C>T	uc001hyl.1	+	70	10332	c.10212C>T	c.(10210-10212)ATC>ATT	p.I3404I	RYR2_uc010pxz.1_Silent_p.I359I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3404					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTTTATCTACTGGTCGA	0.453		NaN											0	0	0	1	0	5	13				
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:4877927C>G	uc001ihi.2	+	4	500	c.385C>G	c.(385-387)CGA>GGA	p.R129G	AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90G|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129G|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						CTCACATCCTCGAGTGCAGGA	0.517		NaN											0	0	0	1	0	18	59				
PRKCQ	5588	broad.mit.edu	37	10	6540507	6540507	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:6540507C>A	uc001ijj.1	-	5	468	c.393G>T	c.(391-393)ATG>ATT	p.M131I	PRKCQ_uc009xim.1_Missense_Mutation_p.M131I|PRKCQ_uc001iji.1_Missense_Mutation_p.M164I|PRKCQ_uc009xin.1_Missense_Mutation_p.M95I|PRKCQ_uc010qax.1_Missense_Mutation_p.M6I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	131					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CAAATTCATTCATGTCCTTTG	0.527		NaN											1	0	3.52763e-06	1	3.72263e-06	18	30				
BEND7	222389	broad.mit.edu	37	10	13534731	13534731	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:13534731C>G	uc001imm.2	-	5	858	c.561G>C	c.(559-561)GAG>GAC	p.E187D	BEND7_uc001imo.3_Missense_Mutation_p.E200D	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	239							protein binding			ovary(1)|breast(1)	2						TTTTCTCCATCTCTGACCCAC	0.532		NaN											0	0	0	1	0	24	186				
CACNB2	783	broad.mit.edu	37	10	18690931	18690931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:18690931G>C	uc001ipr.2	+	3	352	c.292G>C	c.(292-294)GAA>CAA	p.E98Q	CACNB2_uc009xjz.1_Missense_Mutation_p.E98Q|CACNB2_uc001ips.2_Missense_Mutation_p.E98Q|CACNB2_uc001ipt.2_Missense_Mutation_p.E98Q|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.E70Q|CACNB2_uc001ipv.2_Missense_Mutation_p.E70Q|CACNB2_uc009xka.1_Missense_Mutation_p.E70Q|CACNB2_uc001ipw.2_Missense_Mutation_p.E43Q|CACNB2_uc001ipx.2_Missense_Mutation_p.E43Q|CACNB2_uc009xkb.1_Missense_Mutation_p.E44Q|CACNB2_uc010qcm.1_Missense_Mutation_p.E44Q|CACNB2_uc001ipz.2_Missense_Mutation_p.E44Q|CACNB2_uc001ipy.2_Missense_Mutation_p.E44Q|CACNB2_uc010qcn.1_Missense_Mutation_p.E50Q|CACNB2_uc010qco.1_Missense_Mutation_p.E50Q|CACNB2_uc001iqa.2_Missense_Mutation_p.E50Q	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	98					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCGCAGAGAAGCGGAGCG	0.542		NaN											0	0	0	1	0	6	71				
ANKRD26	22852	broad.mit.edu	37	10	27318254	27318254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:27318254G>C	uc001ith.2	-	26	4008	c.3836C>G	c.(3835-3837)GCT>GGT	p.A1279G	ANKRD26_uc001itg.2_Missense_Mutation_p.A966G|ANKRD26_uc009xku.1_Missense_Mutation_p.A1280G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1279	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						ACATCTGACAGCTTCTGTATG	0.308		NaN											0	0	0	1	0	10	27				
SYT15	83849	broad.mit.edu	37	10	46963916	46963916	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:46963916G>A	uc001jea.2	-	7	1200	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F	SYT15_uc001jdz.2_Silent_p.F349F|SYT15_uc001jeb.2_Silent_p.F227F|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	349	Cytoplasmic (Potential).|C2 2.					integral to membrane|plasma membrane					0						CCTTGAAGCTGAAGGTCTCAT	0.532		NaN											0	0	0	1	0	6	48				
GDF10	2662	broad.mit.edu	37	10	48429210	48429210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:48429210C>A	uc001jfb.2	-	2	1132	c.676G>T	c.(676-678)GAT>TAT	p.D226Y	GDF10_uc009xnp.2_Missense_Mutation_p.D225Y|GDF10_uc009xnq.1_Missense_Mutation_p.D226Y	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	226					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						TCCTCAGAATCCAGCTGGGCG	0.697		NaN											1	0	1	1	1	3	12				
JMJD1C	221037	broad.mit.edu	37	10	64937590	64937590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:64937590C>T	uc001jmn.2	-	23	7411	c.7111G>A	c.(7111-7113)GAT>AAT	p.D2371N	JMJD1C_uc001jml.2_Missense_Mutation_p.D2134N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2083N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2189N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2189N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D278N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2371	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCATCCAAATCTTCTTCCTCA	0.363		NaN											0	0	0	1	0	5	16				
SIRT1	23411	broad.mit.edu	37	10	69672284	69672284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:69672284C>T	uc001jnd.2	+	8	1464	c.1411C>T	c.(1411-1413)CAT>TAT	p.H471Y	SIRT1_uc010qis.1_Missense_Mutation_p.H176Y|SIRT1_uc009xpp.2_Missense_Mutation_p.H279Y|SIRT1_uc001jne.2_Missense_Mutation_p.H168Y	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	471	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						ACCTTTGCCTCATCTGCATTT	0.378		NaN											0	0	0	1	0	30	33				
DDX50	79009	broad.mit.edu	37	10	70670973	70670973	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:70670973G>C	uc001jou.2	+	4	717	c.610G>C	c.(610-612)GAA>CAA	p.E204Q	DDX50_uc001jot.2_Missense_Mutation_p.E204Q|DDX50_uc010qjc.1_Missense_Mutation_p.E204Q	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	204	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						AAGAAATCAAGAAACAATTAA	0.368		NaN											0	0	0	1	0	17	83				
PPP3CB	5532	broad.mit.edu	37	10	75239090	75239090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:75239090C>G	uc001jue.2	-	2	406	c.271G>C	c.(271-273)GAA>CAA	p.E91Q	PPP3CB_uc001juf.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E91Q|PPP3CB_uc001juh.2_Missense_Mutation_p.E5Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	91	Catalytic.									skin(1)	1	Prostate(51;0.0119)					ATTGGAGCTTCTACTTCTATC	0.368		NaN											0	0	0	1	0	40	134				
POLR3A	11128	broad.mit.edu	37	10	79781696	79781696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:79781696C>G	uc001jzn.2	-	7	1064	c.970G>C	c.(970-972)GAG>CAG	p.E324Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	324					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCGAGAGCTCACTGTTAATG	0.542		NaN											0	0	0	1	0	5	47				
LIPJ	142910	broad.mit.edu	37	10	90356673	90356673	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:90356673G>T	uc001kff.2	+	8	1017	c.703G>T	c.(703-705)GAC>TAC	p.D235Y		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J	235					lipid catabolic process		hydrolase activity			ovary(1)	1		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTTTGGATATGACCCAAAAAA	0.274		NaN											1	0	1.15088e-07	1	1.23835e-07	17	81				
PANK1	53354	broad.mit.edu	37	10	91353615	91353615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:91353615C>T	uc001kgp.1	-	4	1598	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	PANK1_uc001kgn.1_Missense_Mutation_p.G256E|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G283E|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	481					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TTCATAGTCTCCTCCGTAAAT	0.463		NaN											0	0	0	1	0	72	159				
CEP55	55165	broad.mit.edu	37	10	95266787	95266787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:95266787C>G	uc009xug.2	+	4	684	c.502C>G	c.(502-504)CAT>GAT	p.H168D	CEP55_uc001kiq.3_Missense_Mutation_p.H168D	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	168	Interaction with PDCD6IP.|Potential.|Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AAATAATATTCATGAAATGGA	0.318		NaN											0	0	0	1	0	13	46				
RRP12	23223	broad.mit.edu	37	10	99125901	99125901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:99125901C>T	uc001knf.2	-	29	3620	c.3481G>A	c.(3481-3483)GAC>AAC	p.D1161N	RRP12_uc001kne.2_Missense_Mutation_p.D176N|RRP12_uc009xvl.2_Missense_Mutation_p.D278N|RRP12_uc009xvm.2_Missense_Mutation_p.D879N|RRP12_uc010qou.1_Missense_Mutation_p.D1100N|RRP12_uc009xvn.2_Missense_Mutation_p.D1061N	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1161						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGTTGCCGTCTGCCTCCTCC	0.597		NaN											0	0	0	1	0	27	74				
BLOC1S2	282991	broad.mit.edu	37	10	102045915	102045915	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:102045915G>A	uc001kqw.1	-	2	134	c.111C>T	c.(109-111)ATC>ATT	p.I37I	BLOC1S2_uc001kqv.1_5'UTR	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	37					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		AGAGCTCAGTGATGTCAGCTT	0.602		NaN											0	0	0	1	0	17	62				
GBF1	8729	broad.mit.edu	37	10	104129979	104129979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:104129979G>C	uc001kux.1	+	27	3625	c.3385G>C	c.(3385-3387)GAG>CAG	p.E1129Q	GBF1_uc001kuy.1_Missense_Mutation_p.E1129Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1130Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1129					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTCCAGCTGGAGTCACTACA	0.463		NaN											0	0	0	1	0	94	114				
CALHM2	51063	broad.mit.edu	37	10	105207100	105207100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:105207100C>T	uc001kwz.2	-	3	1167	c.781G>A	c.(781-783)GAG>AAG	p.E261K	CALHM2_uc001kxa.2_Missense_Mutation_p.E261K|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.E261K	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	261						integral to membrane				skin(1)	1						ATCAGTTCCTCATCATCCTTG	0.607		NaN											0	0	0	1	0	13	67				
C10orf82	143379	broad.mit.edu	37	10	118425186	118425186	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:118425186G>C	uc001lcr.2	-	3	262	c.207C>G	c.(205-207)GTC>GTG	p.V69V	C10orf82_uc001lcs.1_Silent_p.V69V	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	69											0				all cancers(201;0.0143)		CCTCGGAGTTGACAGGTTTCA	0.567		NaN											0	0	0	1	0	9	42				
WDR11	55717	broad.mit.edu	37	10	122622425	122622425	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:122622425G>A	uc010qtf.1	+	5	943	c.705G>A	c.(703-705)GAG>GAA	p.E235E	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	235						integral to membrane					0						TCACTCAAGAGAAACCTAGGT	0.368		NaN											0	0	0	1	0	25	39				
C10orf90	118611	broad.mit.edu	37	10	128193522	128193522	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:128193522G>T	uc001ljq.2	-	3	368	c.247C>A	c.(247-249)CAC>AAC	p.H83N	C10orf90_uc001ljp.2_Missense_Mutation_p.H36N|C10orf90_uc010qum.1_Missense_Mutation_p.H180N|C10orf90_uc009yao.2_Missense_Mutation_p.H180N|C10orf90_uc001ljs.1_Missense_Mutation_p.H36N	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	83										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGCTTGGCGTGATGTGCACGA	0.517		NaN											1	0	5.60225e-13	1	6.33079e-13	28	81				
MKI67	4288	broad.mit.edu	37	10	129913840	129913840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:129913840C>G	uc001lke.2	-	7	1027	c.832G>C	c.(832-834)GAT>CAT	p.D278H	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	278					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTAAACCATCAGCACTTTCT	0.448		NaN											0	0	0	1	0	17	32				
GPR123	84435	broad.mit.edu	37	10	134942263	134942263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:134942263G>A	uc001llx.3	+	7	1367	c.931G>A	c.(931-933)GAG>AAG	p.E311K	GPR123_uc001llw.2_Missense_Mutation_p.E1030K	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCCAAGCGTGAGGACGTGTG	0.692		NaN											0	0	0	1	0	9	18				
RNH1	6050	broad.mit.edu	37	11	498609	498609	+	Silent	SNP	G	G	A	rs139771148	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:498609G>A	uc001lpk.1	-	6	2212	c.804C>T	c.(802-804)ATC>ATT	p.I268I	RNH1_uc001lpl.1_Silent_p.I268I|RNH1_uc001lpm.1_Silent_p.I268I|RNH1_uc001lpn.1_Silent_p.I268I|RNH1_uc001lpo.1_Silent_p.I268I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.I268I|RNH1_uc001lpt.1_Silent_p.I25I|RNH1_uc001lpq.1_Silent_p.I268I|RNH1_uc001lpr.1_Silent_p.I268I|RNH1_uc001lps.1_Silent_p.I268I	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	268	LRR 9.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGGCAGTGATGCCACACT	0.647		NaN											0	0	0	1	0	34	45				
MUC6	4588	broad.mit.edu	37	11	1028259	1028259	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1028259C>G	uc001lsw.2	-	14	1771	c.1720G>C	c.(1720-1722)GAG>CAG	p.E574Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	574	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCAGTCTCACGCTCCAGA	0.662		NaN											0	0	0	1	0	4	7				
CTSD	1509	broad.mit.edu	37	11	1775286	1775286	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1775286G>C	uc001luc.1	-	7	1043	c.910C>G	c.(910-912)CCG>GCG	p.P304A	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATCCACCGGGCCCACCATG	0.602		NaN											0	0	0	1	0	6	22				
TNNI2	7136	broad.mit.edu	37	11	1862395	1862395	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1862395G>C	uc010qxe.1	+	5	433	c.411G>C	c.(409-411)CTG>CTC	p.L137L	TNNI2_uc010qxc.1_Silent_p.L135L|TNNI2_uc010qxd.1_Silent_p.L135L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	137					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCATGGACCTGAGGGCCAACC	0.652		NaN											0	0	0	1	0	16	24				
TRPM5	29850	broad.mit.edu	37	11	2432724	2432724	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:2432724C>A	uc001lwm.3	-	18	2649	c.2640G>T	c.(2638-2640)CTG>CTT	p.L880L	TRPM5_uc010qxl.1_Silent_p.L880L|TRPM5_uc009ydn.2_Silent_p.L882L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	880	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCACACGCTCAGAAAGAAGA	0.672		NaN											1	0	0.000566183	1	0.000583312	15	68				
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:5221178G>A	uc010qyz.1	-	1	753	c.753C>T	c.(751-753)ATC>ATT	p.I251I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGGGAGATGCAGGTCT	0.483		NaN											0	0	0	1	0	22	52				
ZNF214	7761	broad.mit.edu	37	11	7021665	7021665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:7021665C>G	uc001mfa.2	-	3	1552	c.1249G>C	c.(1249-1251)GAA>CAA	p.E417Q	ZNF214_uc010ray.1_Missense_Mutation_p.E417Q|ZNF214_uc009yfh.1_Missense_Mutation_p.E417Q	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	417	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACAGTCTTCACATTTATAA	0.398		NaN											0	0	0	1	0	54	79				
ADM	133	broad.mit.edu	37	11	10327968	10327968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:10327968G>A	uc001mik.1	+	3	955	c.338G>A	c.(337-339)GGG>GAG	p.G113E	ADM_uc001mil.1_Missense_Mutation_p.G113E|ADM_uc001mim.1_Missense_Mutation_p.G66E	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor	113					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TGCCGCTTCGGGACGTGCACG	0.632		NaN											0	0	0	1	0	10	33				
PIK3C2A	5286	broad.mit.edu	37	11	17139154	17139154	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:17139154G>C	uc001mmq.3	-	18	3166	c.3100C>G	c.(3100-3102)CTC>GTC	p.L1034V	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.L654V|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1034					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ACTGACAGGAGAGCACCCAAA	0.413		NaN											0	0	0	1	0	14	61				
ANO3	63982	broad.mit.edu	37	11	26463525	26463525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:26463525C>T	uc001mqt.3	+	2	252	c.107C>T	c.(106-108)TCC>TTC	p.S36F	ANO3_uc010rdr.1_Missense_Mutation_p.S20F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	36	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCTCGGAGATCCCTGCCTTGC	0.438		NaN											0	0	0	1	0	29	127				
CCDC34	91057	broad.mit.edu	37	11	27378991	27378991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:27378991C>T	uc001mrh.1	-	2	511	c.457G>A	c.(457-459)GAA>AAA	p.E153K	CCDC34_uc001mri.1_Missense_Mutation_p.E153K	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	153	Potential.										0						TCTTCTTTTTCTTTGCCAATA	0.433		NaN											0	0	0	1	0	16	92				
ABTB2	25841	broad.mit.edu	37	11	34189480	34189480	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:34189480C>A	uc001mvl.1	-	6	1295	c.1065G>T	c.(1063-1065)CTG>CTT	p.L355L		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	355							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGCATCAATCAACATCTGGA	0.562		NaN											1	0	0.004672	1	0.00473971	3	16				
LDLRAD3	143458	broad.mit.edu	37	11	36248961	36248961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:36248961G>T	uc001mwk.1	+	5	818	c.781G>T	c.(781-783)GAG>TAG	p.E261*	LDLRAD3_uc010rey.1_Nonsense_Mutation_p.E212*|LDLRAD3_uc010rez.1_Nonsense_Mutation_p.E140*|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	261	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTCCTACTCCGAGGCCTTGCT	0.577		NaN											1	0	0.000442599	1	0.000456363	10	97				
OR4X1	390113	broad.mit.edu	37	11	48285748	48285748	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:48285748C>G	uc010rht.1	+	1	336	c.336C>G	c.(334-336)CTC>CTG	p.L112L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						AGGCCTTTCTCCTGATGGTGA	0.493		NaN											0	0	0	1	0	9	56				
OR5D18	219438	broad.mit.edu	37	11	55587800	55587800	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55587800T>C	uc010rin.1	+	1	695	c.695T>C	c.(694-696)GTC>GCC	p.V232A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				ATGCGTTCAGTCAGTGGGCGC	0.498		NaN											0	0	0	1	0	16	105				
OR5AS1	219447	broad.mit.edu	37	11	55798344	55798344	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55798344C>T	uc010riw.1	+	1	450	c.450C>T	c.(448-450)TTC>TTT	p.F150F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TGGCATATTTCAGTGGAAGTA	0.453		NaN											0	0	0	1	0	17	235				
OR5M10	390167	broad.mit.edu	37	11	56345151	56345152	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:56345151_56345152CC>TT	uc001niz.1	-	1	46_47	c.46_47GG>AA	c.(46-48)GGA>AAA	p.G16K		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTCTGTCAGTCCTAAGAGAATG	0.455		NaN											0	0	0	1	0	29	74				
SSRP1	6749	broad.mit.edu	37	11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:57099862C>T	uc001njt.2	-	7	1134	c.867G>A	c.(865-867)ATG>ATA	p.M289I		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						CTCACTCGTTCATGTTCAGAG	0.522		NaN											0	0	0	1	0	26	129				
CNTF	1270	broad.mit.edu	37	11	58391557	58391557	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391557G>A	uc001nna.3	+	2	245	c.165G>A	c.(163-165)GGG>GGA	p.G55G	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	55					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCGGATGGGATGCCAGTGG	0.527		NaN											0	0	0	1	0	11	75				
CNTF	1270	broad.mit.edu	37	11	58391595	58391595	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391595C>A	uc001nna.3	+	2	283	c.203C>A	c.(202-204)ACC>AAC	p.T68N	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	68					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGTGAGCTGACCGAGGCAGAG	0.537		NaN											1	0	2.27111e-07	1	2.43748e-07	13	68				
OR5AN1	390195	broad.mit.edu	37	11	59132261	59132261	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59132261G>C	uc010rks.1	+	1	330	c.330G>C	c.(328-330)CTG>CTC	p.L110L		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CGATGGGACTGAGTGAGTCTT	0.443		NaN											0	0	0	1	0	19	194				
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59211279C>T	uc001nnx.1	+	1	638	c.638C>T	c.(637-639)TCG>TTG	p.S213L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GGAGGAACATCGTTCCTCCAA	0.542		NaN											0	0	0	1	0	39	215				
PGA5	5222	broad.mit.edu	37	11	61017253	61017253	+	Missense_Mutation	SNP	G	G	T	rs139795742		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61017253G>T	uc001nqz.2	+	7	916	c.886G>T	c.(886-888)GAC>TAC	p.D296Y		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	296					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						CATCCAGAGCGACATCGGAGC	0.612		NaN											1	0	6.48837e-15	1	7.37181e-15	41	196				
C11orf9	745	broad.mit.edu	37	11	61548506	61548506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61548506C>G	uc001nsc.1	+	20	2657	c.2561C>G	c.(2560-2562)TCT>TGT	p.S854C	C11orf9_uc001nse.1_Missense_Mutation_p.S819C|C11orf9_uc010rll.1_Missense_Mutation_p.S245C	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	854					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ATACAGCCCTCTTTGCTGCTG	0.617		NaN											0	0	0	1	0	10	44				
FADS2	9415	broad.mit.edu	37	11	61624491	61624491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61624491G>C	uc001nsl.1	+	6	903	c.753G>C	c.(751-753)AAG>AAC	p.K251N	FADS2_uc001nsj.2_Missense_Mutation_p.K229N|FADS2_uc010rlo.1_Missense_Mutation_p.K220N|FADS2_uc001nsk.2_Missense_Mutation_p.K251N	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	251	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	AGTACGGCAAGAAGAAGCTGA	0.577		NaN											0	0	0	1	0	13	71				
FADS3	3995	broad.mit.edu	37	11	61646279	61646279	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61646279G>C	uc001nsm.2	-	4	716	c.563C>G	c.(562-564)TCC>TGC	p.S188C	FADS3_uc001nsn.2_Missense_Mutation_p.S64C	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	188	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						CTTGAAGATGGAGGCATGGCC	0.642		NaN											0	0	0	1	0	7	44				
GANAB	23193	broad.mit.edu	37	11	62402467	62402467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62402467G>C	uc001nub.2	-	5	419	c.386C>G	c.(385-387)TCT>TGT	p.S129C	GANAB_uc001nua.2_Missense_Mutation_p.S129C|GANAB_uc001nuc.2_Missense_Mutation_p.S32C|GANAB_uc010rma.1_Missense_Mutation_p.S15C|GANAB_uc010rmb.1_Missense_Mutation_p.S15C	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	129					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						ACCAGAGACAGAAAGCCTGGG	0.463		NaN											0	0	0	1	0	16	76				
SLC22A8	9376	broad.mit.edu	37	11	62763271	62763271	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62763271C>T	uc001nwo.2	-	7	1042	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.Q302Q|SLC22A8_uc009yom.2_Silent_p.Q179Q|SLC22A8_uc010rmm.1_Silent_p.Q211Q|SLC22A8_uc009yon.2_Silent_p.Q302Q	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	302	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						AGATCTCCTTCTGCAGGTTGA	0.587		NaN											0	0	0	1	0	22	84				
RTN3	10313	broad.mit.edu	37	11	63520106	63520106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63520106G>C	uc001nxq.2	+	5	3053	c.2866G>C	c.(2866-2868)GAC>CAC	p.D956H	RTN3_uc001nxo.2_Missense_Mutation_p.D160H|RTN3_uc001nxm.2_Missense_Mutation_p.D179H|RTN3_uc001nxn.2_Missense_Mutation_p.D937H|RTN3_uc001nxp.2_Missense_Mutation_p.D160H|RTN3_uc009yov.2_Missense_Mutation_p.D844H|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	956	Helical; (Potential).|Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						AGATCTGGTTGACTCCTTGAA	0.413		NaN											0	0	0	1	0	36	144				
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63594565C>A	uc001nxt.2	+	6	1336	c.1100C>A	c.(1099-1101)TCC>TAC	p.S367Y	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	367											0						CTGTCAGAATCCAGCACCACT	0.612		NaN											1	0	0.000157383	1	0.00016281	8	33				
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64033997C>T	uc001nzb.2	+	29	3387	c.3387C>T	c.(3385-3387)ATC>ATT	p.I1129I	PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1129					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GTCGGCACATCACTGAGTCAG	0.632		NaN											0	0	0	1	0	16	36				
MEN1	4221	broad.mit.edu	37	11	64573830	64573830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64573830G>A	uc001obj.2	-	7	1011	c.938C>T	c.(937-939)TCA>TTA	p.S313L	MEN1_uc001obk.2_Missense_Mutation_p.S313L|MEN1_uc001obl.2_Missense_Mutation_p.S273L|MEN1_uc001obm.2_Missense_Mutation_p.S308L|MEN1_uc001obn.2_Missense_Mutation_p.S313L|MEN1_uc001obo.2_Missense_Mutation_p.S313L|MEN1_uc001obp.2_Missense_Mutation_p.S308L|MEN1_uc001obq.2_Missense_Mutation_p.S313L|MEN1_uc001obr.2_Missense_Mutation_p.S313L	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	313	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GGTCTTGGCTGAGGCAATGCC	0.622		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	1	0	42	78				
LTBP3	4054	broad.mit.edu	37	11	65325173	65325173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65325173C>G	uc001oej.2	-	1	527	c.258G>C	c.(256-258)CAG>CAC	p.Q86H	LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.Q86H|LTBP3_uc010roj.1_Missense_Mutation_p.Q72H|LTBP3_uc010rok.1_5'UTR	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	86	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGTTGGAGCCCTGCTGACAAC	0.647		NaN											0	0	0	1	0	6	71				
PACS1	55690	broad.mit.edu	37	11	65998061	65998061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65998061C>G	uc001oha.1	+	12	1551	c.1417C>G	c.(1417-1419)CTG>GTG	p.L473V	PACS1_uc010rou.1_Missense_Mutation_p.L9V	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	473					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						CAGCACGAGTCTGGTTGTGCC	0.542		NaN											0	0	0	1	0	9	52				
RBM4B	83759	broad.mit.edu	37	11	66444533	66444533	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66444533G>A	uc001oja.2	-	1	687	c.18C>T	c.(16-18)ATC>ATT	p.I6I	RBM4B_uc001ojb.2_Silent_p.I6I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	6	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GAAGGTTTCCGATGAACAGCT	0.502		NaN											0	0	0	1	0	21	139				
SPTBN2	6712	broad.mit.edu	37	11	66466202	66466202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66466202C>T	uc001ojd.2	-	19	3994	c.3922G>A	c.(3922-3924)GAG>AAG	p.E1308K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1308	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TTGCGGGCCTCGTCATAGGAC	0.562		NaN											0	0	0	1	0	12	69				
LRFN4	78999	broad.mit.edu	37	11	66627177	66627177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627177C>A	uc001ojr.2	+	2	1759	c.1419C>A	c.(1417-1419)TGC>TGA	p.C473*	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	473	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0						ATGACCTCTGCCTGCTGGCCT	0.687		NaN											1	0	1.12685e-05	1	1.18122e-05	8	20				
LRFN4	78999	broad.mit.edu	37	11	66627252	66627252	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627252C>A	uc001ojr.2	+	2	1834	c.1494C>A	c.(1492-1494)TCC>TCA	p.S498S	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	498	Extracellular (Potential).					integral to membrane					0						CCCATTTCTCCACGCTGCCGG	0.716		NaN											1	0	0.00116845	1	0.00119403	6	12				
LRFN4	78999	broad.mit.edu	37	11	66627354	66627354	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627354C>G	uc001ojr.2	+	2	1936	c.1596C>G	c.(1594-1596)GTC>GTG	p.V532V	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	532	Helical; (Potential).					integral to membrane					0						CCTTACTGGTCTTCACTGTGG	0.721		NaN											0	0	0	1	0	9	25				
LRFN4	78999	broad.mit.edu	37	11	66627411	66627411	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627411C>G	uc001ojr.2	+	2	1993	c.1653C>G	c.(1651-1653)CTC>CTG	p.L551L	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	551	Cytoplasmic (Potential).					integral to membrane					0						GCCTCCCCCTCAAGCTCAGCC	0.587		NaN											0	0	0	1	0	10	19				
NDUFV1	4723	broad.mit.edu	37	11	67377958	67377958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:67377958G>C	uc001omj.2	+	5	770	c.617G>C	c.(616-618)TGT>TCT	p.C206S	NDUFV1_uc010rpv.1_Missense_Mutation_p.C105S|NDUFV1_uc001oml.2_Missense_Mutation_p.C199S|NDUFV1_uc001omk.3_Missense_Mutation_p.C197S|NDUFV1_uc009yrz.1_Missense_Mutation_p.C105S|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	206	FMN (By similarity).				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GCCTACATCTGTGGAGAGGAG	0.602		NaN											0	0	0	1	0	44	106				
KRTAP5-7	440050	broad.mit.edu	37	11	71238672	71238672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71238672C>G	uc001oqq.1	+	1	360	c.326C>G	c.(325-327)TCA>TGA	p.S109*		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	109	7 X 4 AA repeats of C-C-X-P.					keratin filament					0						ggctgtgggtcatcctgctgc	0.139		NaN											0	0	0	1	0	71	198				
NUMA1	4926	broad.mit.edu	37	11	71726869	71726869	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71726869C>G	uc001orl.1	-	15	1852	c.1680G>C	c.(1678-1680)CTG>CTC	p.L560L	NUMA1_uc009ysw.1_Silent_p.L123L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L560L|NUMA1_uc001orn.2_Silent_p.L123L|NUMA1_uc009ysx.1_Silent_p.L560L|NUMA1_uc001oro.1_Silent_p.L560L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	560	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCTTCTGCTTCAGGCTACTGC	0.612		NaN	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	150				
STARD10	10809	broad.mit.edu	37	11	72466776	72466776	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:72466776C>T	uc001osy.2	-	6	891	c.600G>A	c.(598-600)GTG>GTA	p.V200V	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.V200V|STARD10_uc001ota.2_Silent_p.V154V|STARD10_uc001otb.2_Silent_p.V200V	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	200	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AAGATTTATTCACCACCCACT	0.592		NaN											0	0	0	1	0	13	35				
UCP2	7351	broad.mit.edu	37	11	73686631	73686631	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:73686631C>T	uc001oup.1	-	7	1100	c.720G>A	c.(718-720)ACG>ACA	p.T240T	UCP2_uc001ouq.1_Intron	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	240	Solcar 3.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					TCATGTATCTCGTCTTGACCA	0.592		NaN											0	0	0	1	0	31	101				
CAPN5	726	broad.mit.edu	37	11	76825378	76825378	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76825378G>C	uc001oxx.2	+	5	782	c.597G>C	c.(595-597)CTG>CTC	p.L199L	CAPN5_uc009yup.2_Silent_p.L239L|CAPN5_uc009yuq.2_Silent_p.L235L|CAPN5_uc001oxy.2_Silent_p.L239L	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	199	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CCATCGACCTGACCGAGGGTG	0.582		NaN									OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	44	309				
MYO7A	4647	broad.mit.edu	37	11	76869381	76869381	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76869381C>T	uc001oyb.2	+	9	1180	c.908C>T	c.(907-909)TCC>TTC	p.S303F	MYO7A_uc010rsl.1_Missense_Mutation_p.S303F|MYO7A_uc010rsm.1_Missense_Mutation_p.S292F|MYO7A_uc001oyc.2_Missense_Mutation_p.S303F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	303	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						AACATCCGCTCCGCCATGAAG	0.607		NaN											0	0	0	1	0	12	33				
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:77301476C>T	uc001oyj.2	+	1	797	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GACCCAGTATCACGTCAGCGA	0.592		NaN											0	0	0	1	0	30	54				
NARS2	79731	broad.mit.edu	37	11	78270590	78270590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78270590G>C	uc001ozi.2	-	5	965	c.589C>G	c.(589-591)CTT>GTT	p.L197V	NARS2_uc010rsq.1_5'UTR	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	197					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CTTACTTCAAGTTGAAAAAGT	0.353		NaN											0	0	0	1	0	26	142				
ODZ4	26011	broad.mit.edu	37	11	78433937	78433937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78433937C>G	uc001ozl.3	-	24	4039	c.3576G>C	c.(3574-3576)GAG>GAC	p.E1192D		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1192	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CAAACTGGTTCTCCCCATTCC	0.552		NaN											0	0	0	1	0	24	33				
NAALAD2	10003	broad.mit.edu	37	11	89885637	89885637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:89885637G>A	uc001pdf.3	+	6	890	c.781G>A	c.(781-783)GGC>AGC	p.G261S	NAALAD2_uc009yvx.2_Missense_Mutation_p.G261S|NAALAD2_uc009yvy.2_Missense_Mutation_p.G261S|NAALAD2_uc001pdd.2_Missense_Mutation_p.G261S|NAALAD2_uc001pde.2_Missense_Mutation_p.G261S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	261	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTCACTCCAGGCTATCCAGC	0.448		NaN											0	0	0	1	0	16	33				
CCDC67	159989	broad.mit.edu	37	11	93097339	93097339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:93097339C>G	uc001pdq.2	+	5	411	c.311C>G	c.(310-312)ACA>AGA	p.T104R	CCDC67_uc001pdo.1_Missense_Mutation_p.T104R|CCDC67_uc001pdp.2_Missense_Mutation_p.T104R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	104	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCCAAACTAACAAATAACTTT	0.303		NaN											0	0	0	1	0	5	25				
PIWIL4	143689	broad.mit.edu	37	11	94328539	94328539	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:94328539C>G	uc001pfa.2	+	10	1426	c.1215C>G	c.(1213-1215)CTC>CTG	p.L405L	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	405					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGACACGTCTCAGTCCTTCAG	0.502		NaN											0	0	0	1	0	19	116				
JRKL	8690	broad.mit.edu	37	11	96124003	96124003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:96124003C>G	uc009ywu.2	+	2	442	c.190C>G	c.(190-192)CTT>GTT	p.L64V	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L64V	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	64					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TTCCACAAGTCTTTTGGCCAA	0.398		NaN											0	0	0	1	0	18	104				
CNTN5	53942	broad.mit.edu	37	11	99827554	99827554	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:99827554G>T	uc001pga.2	+	8	1029	c.690G>T	c.(688-690)TGG>TGT	p.W230C	CNTN5_uc009ywv.1_Missense_Mutation_p.W230C|CNTN5_uc001pfz.2_Missense_Mutation_p.W230C|CNTN5_uc001pgb.2_Missense_Mutation_p.W156C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	230	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTATAGCTGGGTATTTAATG	0.393		NaN											1	0	8.00594e-06	1	8.41325e-06	19	48				
YAP1	10413	broad.mit.edu	37	11	102100566	102100566	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:102100566G>C	uc001pgt.2	+	9	1780	c.1410G>C	c.(1408-1410)CTG>CTC	p.L470L	YAP1_uc001pgs.2_Silent_p.L420L|YAP1_uc001pgu.2_Silent_p.L454L|YAP1_uc001pgv.2_Silent_p.L416L|YAP1_uc010ruo.1_Silent_p.L292L|YAP1_uc001pgw.2_Silent_p.L294L|YAP1_uc010rup.1_Silent_p.L235L	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	470	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAGAGGAGCTGATGCCAAGTC	0.463		NaN											0	0	0	1	0	14	104				
CUL5	8065	broad.mit.edu	37	11	107959270	107959270	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:107959270C>G	uc001pjv.2	+	12	1862	c.1195C>G	c.(1195-1197)CAG>GAG	p.Q399E	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	399					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTAAAAACTCAGCCTGAATC	0.338		NaN											0	0	0	1	0	13	76				
EXPH5	23086	broad.mit.edu	37	11	108381565	108381565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:108381565C>G	uc001pkk.2	-	6	4780	c.4669G>C	c.(4669-4671)GAT>CAT	p.D1557H	EXPH5_uc010rvy.1_Missense_Mutation_p.D1369H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1401H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1481H	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1557					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGCATTTCATCTTCAGCCTTC	0.418		NaN											0	0	0	1	0	21	117				
RDX	5962	broad.mit.edu	37	11	110134918	110134918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110134918G>C	uc001pku.2	-	5	544	c.234C>G	c.(232-234)TTC>TTG	p.F78L	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.F78L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.F46L|RDX_uc010rwe.1_Intron	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	78	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTAAACTTGAACTGTAAAG	0.303		NaN											0	0	0	1	0	21	30				
ARHGAP20	57569	broad.mit.edu	37	11	110450129	110450129	+	Missense_Mutation	SNP	C	C	T	rs148304862	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110450129C>T	uc001pkz.1	-	16	3826	c.3541G>A	c.(3541-3543)GAC>AAC	p.D1181N	ARHGAP20_uc001pky.1_Missense_Mutation_p.D1158N|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001pla.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001plb.2_Missense_Mutation_p.D724N	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTCAATGTCGCAGACCACT	0.448		NaN											0	0	0	1	0	23	125				
SDHD	6392	broad.mit.edu	37	11	111965691	111965691	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:111965691C>G	uc001pmz.2	+	4	538	c.477C>G	c.(475-477)CTC>CTG	p.L159L		NM_003002	NP_002993	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D	159	Mitochondrial intermembrane (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TGTGGAAGCTCTGACCTTTTT	0.423		NaN	Mis|N|F|S			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				0	0	0	1	0	24	66				
PAFAH1B2	5049	broad.mit.edu	37	11	117023231	117023231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117023231G>C	uc001pqe.1	+	2	170	c.68G>C	c.(67-69)CGA>CCA	p.R23P	PAFAH1B2_uc009yzk.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	23					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GGAGATGACCGATGGATGTCT	0.353		NaN	T	IGH@	MLCLS								0	0	0	1	0	6	55				
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117859132G>C	uc001prv.2	+	2	180	c.103G>C	c.(103-105)GAA>CAA	p.E35Q	IL10RA_uc010rxl.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxm.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	35	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.468		NaN											0	0	0	1	0	30	110				
CD3G	917	broad.mit.edu	37	11	118221328	118221328	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118221328C>T	uc001psu.2	+	4	449	c.369C>T	c.(367-369)ATC>ATT	p.I123I	CD3G_uc009zaa.1_Silent_p.I63I	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	123	Helical; (Potential).				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGCTGAAATCGTCAGCATTT	0.463		NaN											0	0	0	1	0	27	103				
MLL	4297	broad.mit.edu	37	11	118369132	118369132	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118369132C>T	uc001pta.2	+	22	5864	c.5841C>T	c.(5839-5841)CTC>CTT	p.L1947L	MLL_uc001ptb.2_Silent_p.L1950L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1947					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTTGCTGTCTCACATCCTGCA	0.423		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	105	191				
MLL	4297	broad.mit.edu	37	11	118375134	118375134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118375134G>A	uc001pta.2	+	27	8541	c.8518G>A	c.(8518-8520)GAC>AAC	p.D2840N	MLL_uc001ptb.2_Missense_Mutation_p.D2843N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2840					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAACAGTGATGACTGTGGGAA	0.443		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	56	129		Valid		
MLL	4297	broad.mit.edu	37	11	118390358	118390358	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390358G>A	uc001pta.2	+	32	11186	c.11163G>A	c.(11161-11163)GGG>GGA	p.G3721G	MLL_uc001ptb.2_Silent_p.G3724G	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3721	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGATGCTGGGGATTCTCCATG	0.493		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	22	151				
MLL	4297	broad.mit.edu	37	11	118390449	118390449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390449G>T	uc001pta.2	+	32	11277	c.11254G>T	c.(11254-11256)GAG>TAG	p.E3752*	MLL_uc001ptb.2_Nonsense_Mutation_p.E3755*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3752					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGCCAGAGGAGGCCAATGA	0.522		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								1	0	3.45872e-05	1	3.61359e-05	16	107		Valid		
UPK2	7379	broad.mit.edu	37	11	118827612	118827612	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827612C>G	uc001puh.2	+	2	131	c.96C>G	c.(94-96)CTC>CTG	p.L32L		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	32					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCTCAAGCCTCTCTGGTCTGC	0.627		NaN									OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	12	68				
UPK2	7379	broad.mit.edu	37	11	118827675	118827675	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827675C>T	uc001puh.2	+	2	194	c.159C>T	c.(157-159)CTC>CTT	p.L53L		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	53					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTGTCACCTCACAGGAGGCA	0.592		NaN									OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	10	79				
TRAPPC4	51399	broad.mit.edu	37	11	118889918	118889918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118889918G>C	uc010ryo.1	+	2	506	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.E81Q|TRAPPC4_uc010ryp.1_Missense_Mutation_p.E81Q|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.E81Q	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	81					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CGACGGGAAAGAGGTGCTGGA	0.562		NaN											0	0	0	1	0	13	62				
CBL	867	broad.mit.edu	37	11	119149302	119149302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149302G>T	uc001pwe.2	+	9	1448	c.1310G>T	c.(1309-1311)AGA>ATA	p.R437I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	437	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTGATCCTAGAGGGAGTGGC	0.483		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				1	0	1.36615e-20	1	1.57057e-20	36	78				
CBL	867	broad.mit.edu	37	11	119149399	119149399	+	Missense_Mutation	SNP	G	G	A	rs138277394		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149399G>A	uc001pwe.2	+	9	1545	c.1407G>A	c.(1405-1407)ATG>ATA	p.M469I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	469	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCTCTTCATGATGAAGGAAT	0.463		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	1	0	21	55				
SORL1	6653	broad.mit.edu	37	11	121384943	121384943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121384943C>G	uc001pxx.2	+	8	1204	c.1124C>G	c.(1123-1125)TCA>TGA	p.S375*		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	375	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTATACATCTCAGAGGCAGAG	0.512		NaN											0	0	0	1	0	15	70				
SORL1	6653	broad.mit.edu	37	11	121424706	121424706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121424706C>T	uc001pxx.2	+	17	2407	c.2327C>T	c.(2326-2328)TCG>TTG	p.S776L		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	776	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACCTGGCCTCGGGAGCCACC	0.567		NaN											0	0	0	1	0	47	134				
BSX	390259	broad.mit.edu	37	11	122848503	122848503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:122848503C>A	uc010rzs.1	-	3	556	c.556G>T	c.(556-558)GAG>TAG	p.E186*		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	186											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGGCTGCCCTCGGGGCTTTCT	0.647		NaN											1	0	0.00307968	1	0.00313441	8	32				
SLC37A2	219855	broad.mit.edu	37	11	124933296	124933296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:124933296C>T	uc001qbn.2	+	1	284	c.33C>T	c.(31-33)TTC>TTT	p.F11F	SLC37A2_uc010sau.1_Silent_p.F11F	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	11					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGTCTGGTTCTTCCGGGCCT	0.711		NaN											0	0	0	1	0	5	12				
NFRKB	4798	broad.mit.edu	37	11	129752028	129752028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:129752028G>A	uc001qfi.2	-	11	1345	c.1144C>T	c.(1144-1146)CTT>TTT	p.L382F	NFRKB_uc001qfg.2_Missense_Mutation_p.L407F|NFRKB_uc001qfh.2_Missense_Mutation_p.L405F|NFRKB_uc010sbw.1_Missense_Mutation_p.L394F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	382					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAATAGAAGAGAGAAGAAG	0.403		NaN									OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	16	16				
NINJ2	4815	broad.mit.edu	37	12	674518	674518	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:674518G>A	uc001qil.2	-	3	541	c.450C>T	c.(448-450)CTC>CTT	p.L150L		NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	104	Cytoplasmic (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTGCGTTGTTGAGCTGGTTGA	0.557		NaN											0	0	0	1	0	18	93				
CACNA1C	775	broad.mit.edu	37	12	2797857	2797857	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:2797857G>T	uc009zdu.1	+	49	6591	c.6278G>T	c.(6277-6279)AGA>ATA	p.R2093I	CACNA1C_uc009zdv.1_Missense_Mutation_p.R2007I|CACNA1C_uc001qkb.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkc.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qke.2_Missense_Mutation_p.R1999I|CACNA1C_uc001qkf.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qjz.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkd.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qkg.2_Missense_Mutation_p.R2016I|CACNA1C_uc009zdw.1_Missense_Mutation_p.R2051I|CACNA1C_uc001qkh.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qkl.2_Missense_Mutation_p.R2058I|CACNA1C_uc001qkn.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qko.2_Missense_Mutation_p.R2030I|CACNA1C_uc001qkp.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkr.2_Missense_Mutation_p.R2027I|CACNA1C_uc001qku.2_Missense_Mutation_p.R2045I|CACNA1C_uc001qkq.2_Missense_Mutation_p.R2038I|CACNA1C_uc001qks.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkt.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qki.1_Missense_Mutation_p.R1817I|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1781I|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1746I|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1806I|CACNA1C_uc010sea.1_Missense_Mutation_p.R701I|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R328I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2093	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692		NaN											1	0	0.00116845	1	0.00119403	6	33				
C12orf4	57102	broad.mit.edu	37	12	4643350	4643350	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:4643350C>T	uc001qms.2	-	3	385	c.297G>A	c.(295-297)GCG>GCA	p.A99A	C12orf4_uc001qmt.2_Silent_p.A99A	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	99											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCCATGTACTCGCCAGCTGAT	0.393		NaN											0	0	0	1	0	32	55				
NOP2	4839	broad.mit.edu	37	12	6675398	6675398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6675398C>A	uc001qpk.1	-	4	387	c.343G>T	c.(343-345)GAG>TAG	p.E115*	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpi.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Nonsense_Mutation_p.E115*|NOP2_uc001qpm.1_Nonsense_Mutation_p.E115*			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	115					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TCCTCCTCCTCTTCCTCATCA	0.562		NaN											1	0	1.33987e-11	1	1.49799e-11	11	34				
C12orf53	196500	broad.mit.edu	37	12	6804697	6804697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6804697G>T	uc001qqf.1	-	5	802	c.726C>A	c.(724-726)TTC>TTA	p.F242L	C12orf53_uc001qqg.1_Missense_Mutation_p.F242L	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	242	Cytoplasmic (Potential).					integral to membrane					0						GTGAGTCCCCGAAGGCCCCCA	0.692		NaN											1	0	0.000673444	1	0.000690993	11	45				
GNB3	2784	broad.mit.edu	37	12	6954828	6954828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6954828G>A	uc001qrd.2	+	10	1183	c.778G>A	c.(778-780)GAG>AAG	p.E260K	GNB3_uc001qrc.2_Missense_Mutation_p.E216K|GNB3_uc009zfe.2_Missense_Mutation_p.E259K|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	260					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GGCAGACCAGGAGCTGATCTG	0.607		NaN											0	0	0	1	0	47	135				
ZNF705A	440077	broad.mit.edu	37	12	8329747	8329747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:8329747C>G	uc001qud.1	+	5	543	c.471C>G	c.(469-471)TTC>TTG	p.F157L		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		GTAATCTTTTCTCCCCTAAAC	0.373		NaN											0	0	0	1	0	43	227				
PZP	5858	broad.mit.edu	37	12	9305777	9305777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9305777C>G	uc001qvl.2	-	30	3966	c.3937G>C	c.(3937-3939)GAG>CAG	p.E1313Q	PZP_uc009zgl.2_Missense_Mutation_p.E1099Q	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CCAGGGAGCTCTGGCAATGAG	0.433		NaN											0	0	0	1	0	60	137				
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9321515G>C	uc001qvl.2	-	17	2086	c.2057C>G	c.(2056-2058)TCA>TGA	p.S686*	PZP_uc009zgl.2_Nonsense_Mutation_p.S555*|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Nonsense_Mutation_p.S18*	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AGGGATGACTGAACACGACTT	0.368		NaN											0	0	0	1	0	12	84				
DUSP16	80824	broad.mit.edu	37	12	12673996	12673996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:12673996C>T	uc001rao.1	-	2	669	c.37G>A	c.(37-39)GAG>AAG	p.E13K	DUSP16_uc001ran.1_5'UTR	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	13					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ACCAACCTCTCAGTAACAATT	0.438		NaN											0	0	0	1	0	7	31				
GSG1	83445	broad.mit.edu	37	12	13238096	13238096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:13238096G>C	uc001rbn.2	-	7	1001	c.828C>G	c.(826-828)TTC>TTG	p.F276L	GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282E|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318E|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318E	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	263						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTTGCACTTGAACTCCAGCA	0.557		NaN											0	0	0	1	0	6	58				
KIAA0528	9847	broad.mit.edu	37	12	22697070	22697070	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:22697070C>T	uc001rfq.2	-	2	243	c.15G>A	c.(13-15)CTG>CTA	p.L5L	KIAA0528_uc010sis.1_Silent_p.L5L|KIAA0528_uc010sit.1_Silent_p.L5L|KIAA0528_uc010siu.1_Silent_p.L5L|KIAA0528_uc001rfr.2_Silent_p.L5L|KIAA0528_uc009ziy.1_Silent_p.L5L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	5	C2.						protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTTTCACCTTCAGCTTCCCTG	0.627		NaN											0	0	0	1	0	21	51				
ITPR2	3709	broad.mit.edu	37	12	26714780	26714780	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:26714780C>A	uc001rhg.2	-	35	5153	c.4736G>T	c.(4735-4737)AGA>ATA	p.R1579I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1579	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGCTGATAGTCTCCAACCCAT	0.448		NaN											1	0	3.09899e-07	1	3.31189e-07	9	52				
OVCH1	341350	broad.mit.edu	37	12	29604325	29604325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:29604325G>C	uc001rix.1	-	22	2708	c.2708C>G	c.(2707-2709)TCA>TGA	p.S903*		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	903	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATTAGAACTGAGTCTTGACA	0.438		NaN											0	0	0	1	0	6	36				
KIF21A	55605	broad.mit.edu	37	12	39726897	39726897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39726897G>A	uc001rly.2	-	19	2646	c.2500C>T	c.(2500-2502)CGT>TGT	p.R834C	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151C|KIF21A_uc001rlx.2_Missense_Mutation_p.R821C|KIF21A_uc001rlz.2_Missense_Mutation_p.R798C|KIF21A_uc010skl.1_Missense_Mutation_p.R821C	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				ACTTGCCGACGAAGAGCCGTA	0.448		NaN											0	0	0	1	0	49	93				
KIF21A	55605	broad.mit.edu	37	12	39751995	39751995	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39751995G>C	uc001rly.2	-	8	1346	c.1200C>G	c.(1198-1200)CTC>CTG	p.L400L	KIF21A_uc001rlx.2_Silent_p.L400L|KIF21A_uc001rlz.2_Silent_p.L400L|KIF21A_uc010skl.1_Silent_p.L400L|KIF21A_uc001rma.1_Silent_p.L408L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	400	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACTCCATGAGCTCCATCT	0.398		NaN											0	0	0	1	0	35	206				
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:40001459C>T	uc001rmb.2	-	3	1604	c.1178G>A	c.(1177-1179)CGA>CAA	p.R393Q		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						CAGTAAATTTCGAGCAGTGGT	0.323		NaN											0	0	0	1	0	26	71				
CNTN1	1272	broad.mit.edu	37	12	41312446	41312446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:41312446G>A	uc001rmm.1	+	4	213	c.100G>A	c.(100-102)GAG>AAG	p.E34K	CNTN1_uc009zjy.1_Missense_Mutation_p.E34K|CNTN1_uc001rmn.1_Missense_Mutation_p.E23K|CNTN1_uc001rmo.2_Missense_Mutation_p.E34K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	34					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTAGTTTCTGAGGAAGACAA	0.323		NaN											0	0	0	1	0	7	40				
PLEKHA9	51054	broad.mit.edu	37	12	45567593	45567593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:45567593C>T	uc001rom.1	-	3	1093	c.556G>A	c.(556-558)GAG>AAG	p.E186K	PLEKHA9_uc009zke.2_Missense_Mutation_p.E186K	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		TTGCCTTCCTCCCAGAGGCAT	0.403		NaN											0	0	0	1	0	79	114				
TMEM106C	79022	broad.mit.edu	37	12	48358114	48358114	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48358114A>T	uc001rqp.2	+	2	210	c.95A>T	c.(94-96)GAA>GTA	p.E32V	TMEM106C_uc001rqo.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqr.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqq.2_Missense_Mutation_p.E32V	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	32						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CGAGAGCAGGAAGAAGCCATT	0.562		NaN											0	0	0	1	0	8	38				
SENP1	29843	broad.mit.edu	37	12	48482603	48482603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48482603C>T	uc001rqx.2	-	5	807	c.361G>A	c.(361-363)GAA>AAA	p.E121K	SENP1_uc001rqw.2_Missense_Mutation_p.E121K|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.E121K	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	121	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTCGGGTTTCGAGGTAAAGA	0.403		NaN											0	0	0	1	0	5	9				
OR10AD1	121275	broad.mit.edu	37	12	48597027	48597027	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48597027G>T	uc001rrl.1	-	1	49	c.49C>A	c.(49-51)CAG>AAG	p.Q17K		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGCTCTGCTGAAAGCCCACG	0.507		NaN											1	0	0.248553	1	0.24875	6	52				
MLL2	8085	broad.mit.edu	37	12	49420241	49420241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:49420241G>A	uc001rta.3	-	48	15508	c.15508C>T	c.(15508-15510)CAG>TAG	p.Q5170*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5170					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTCCCCGCTGAATGATGCTA	0.572		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	1	0	5	43		Valid		
FMNL3	91010	broad.mit.edu	37	12	50047084	50047084	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50047084C>G	uc001ruv.1	-	13	1482	c.1248G>C	c.(1246-1248)GAG>GAC	p.E416D	FMNL3_uc001ruw.1_Missense_Mutation_p.E365D|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.E266D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	416	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						TGTTTTCATTCTCTAGGTCCA	0.532		NaN											0	0	0	1	0	25	128				
LIMA1	51474	broad.mit.edu	37	12	50570907	50570907	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50570907G>C	uc001rwj.3	-	11	2394	c.2220C>G	c.(2218-2220)CTC>CTG	p.L740L	LIMA1_uc001rwg.3_Silent_p.L438L|LIMA1_uc001rwh.3_Silent_p.L579L|LIMA1_uc001rwi.3_Silent_p.L581L|LIMA1_uc001rwk.3_Silent_p.L741L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	740					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						CTTCCACAGAGAGCTCTTTGA	0.423		NaN											0	0	0	1	0	60	274				
KRT6A	3853	broad.mit.edu	37	12	52882123	52882123	+	Silent	SNP	A	A	G	rs1132960		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52882123A>G	uc001sam.2	-	7	1622	c.1413T>C	c.(1411-1413)GGT>GGC	p.G471G		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	471	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCACCCTCCAGCA	0.577		NaN											0	0	0	1	0	18	101				
KRT5	3852	broad.mit.edu	37	12	52913532	52913532	+	Silent	SNP	G	G	A	rs61726460		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52913532G>A	uc001san.2	-	1	712	c.549C>T	c.(547-549)ATC>ATT	p.I183I	KRT5_uc009zmh.2_Silent_p.I183I	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	183	Coil 1A.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.468		NaN											0	0	0	1	0	28	100				
RARG	5916	broad.mit.edu	37	12	53608346	53608346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608346C>T	uc001sce.2	-	6	1005	c.520G>A	c.(520-522)GAA>AAA	p.E174K	RARG_uc001scd.2_Missense_Mutation_p.E163K|RARG_uc010sob.1_Missense_Mutation_p.E152K|RARG_uc001scf.2_Missense_Mutation_p.E174K|RARG_uc001scg.2_Missense_Mutation_p.E102K|RARG_uc010soc.1_Missense_Mutation_p.E53K|RARG_uc010sod.1_Missense_Mutation_p.E211K	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	174	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTGACCCTTCTTCCTTCACC	0.557		NaN											0	0	0	1	0	11	25				
SP7	121340	broad.mit.edu	37	12	53722170	53722170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53722170C>T	uc001sct.2	-	2	1163	c.1056G>A	c.(1054-1056)AAG>AAA	p.K352K	SP7_uc001scu.2_Silent_p.K334K|SP7_uc001scv.2_Silent_p.K352K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTGAACTTCTTCTCCCGGG	0.622		NaN									OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	13	49				
SP1	6667	broad.mit.edu	37	12	53776785	53776785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53776785C>T	uc001scw.2	+	3	1151	c.1054C>T	c.(1054-1056)CAA>TAA	p.Q352*	SP1_uc010sog.1_Nonsense_Mutation_p.Q345*	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	352	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCAACTCTCAAGGCCAGAC	0.502		NaN											0	0	0	1	0	8	49				
SP1	6667	broad.mit.edu	37	12	53777068	53777068	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53777068C>G	uc001scw.2	+	3	1434	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	SP1_uc010sog.1_Missense_Mutation_p.S439C	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	446	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTTCCAAACTCTGGTCCCATC	0.557		NaN											0	0	0	1	0	19	86				
AMHR2	269	broad.mit.edu	37	12	53825228	53825228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53825228C>T	uc001scx.1	+	11	1771	c.1693C>T	c.(1693-1695)CAG>TAG	p.Q565*	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	565	Cytoplasmic (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	CAGGAATCCTCAGCCTGCCTG	0.498		NaN							Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				0	0	0	1	0	32	45				
MAP3K12	7786	broad.mit.edu	37	12	53881144	53881144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53881144G>A	uc001sdm.1	-	2	130	c.32C>T	c.(31-33)TCT>TTT	p.S11F	MAP3K12_uc001sdn.1_Missense_Mutation_p.S11F	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	11					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AAAGGAAGGAGAGGGTGTTCG	0.597		NaN											0	0	0	1	0	26	47				
HOXC8	3224	broad.mit.edu	37	12	54403245	54403245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54403245C>G	uc001ser.2	+	1	356	c.177C>G	c.(175-177)TTC>TTG	p.F59L		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	59						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTCAAGACTTCTTCCACCACG	0.652		NaN											0	0	0	1	0	30	171				
NCKAP1L	3071	broad.mit.edu	37	12	54917701	54917701	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54917701C>G	uc001sgc.3	+	20	2196	c.2117C>G	c.(2116-2118)TCT>TGT	p.S706C	NCKAP1L_uc010sox.1_Missense_Mutation_p.S248C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S656C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	706					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ATCTTCCCTTCTGAGTACCTC	0.448		NaN											0	0	0	1	0	9	67				
DGKA	1606	broad.mit.edu	37	12	56347534	56347534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56347534C>A	uc001sij.2	+	24	2454	c.2190C>A	c.(2188-2190)TTC>TTA	p.F730L	DGKA_uc001sik.2_Missense_Mutation_p.F730L|DGKA_uc001sil.2_Missense_Mutation_p.F730L|DGKA_uc001sim.2_Missense_Mutation_p.F730L|DGKA_uc001sin.2_Missense_Mutation_p.F730L|DGKA_uc009zof.2_Missense_Mutation_p.F376L|DGKA_uc001sio.2_Missense_Mutation_p.F472L	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	730					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	CCACCAATTTCTTTGGCTTCT	0.582		NaN											1	0	1.02788e-11	1	1.15021e-11	17	47				
OBFC2B	79035	broad.mit.edu	37	12	56618691	56618691	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56618691G>T	uc001ski.2	+	2	175	c.51G>T	c.(49-51)CTG>CTT	p.L17L	OBFC2B_uc001skk.2_Silent_p.L42L|OBFC2B_uc001skj.2_Silent_p.L33L|RNF41_uc001ske.1_5'Flank|RNF41_uc001skf.1_5'Flank|RNF41_uc001skg.1_5'Flank|RNF41_uc010sqg.1_5'Flank|RNF41_uc010sqh.1_5'Flank|RNF41_uc001skh.2_5'Flank	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	17					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						TCAAGAATCTGAACCTTATCT	0.577		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function			OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.12818e-05	1	8.44313e-05	6	52				
PAN2	9924	broad.mit.edu	37	12	56715866	56715866	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56715866C>T	uc001skx.2	-	20	3169	c.2796G>A	c.(2794-2796)CTG>CTA	p.L932L	PAN2_uc001skw.2_Silent_p.L80L|PAN2_uc001skz.2_Silent_p.L931L|PAN2_uc001sky.2_Silent_p.L928L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	932					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						ACTTACTGTTCAGGTTGTATC	0.408		NaN											0	0	0	1	0	53	83				
OSBPL8	114882	broad.mit.edu	37	12	76750481	76750481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:76750481C>A	uc001sye.1	-	23	2942	c.2462G>T	c.(2461-2463)AGA>ATA	p.R821I	OSBPL8_uc001syf.1_Missense_Mutation_p.R779I|OSBPL8_uc001syg.1_Missense_Mutation_p.R779I	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	821					lipid transport		lipid binding			ovary(1)	1						TCCTTTCTTTCTTCTTGTACT	0.289		NaN											1	0	1.3612e-06	1	1.44492e-06	14	34				
ATP2B1	490	broad.mit.edu	37	12	89996871	89996871	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:89996871G>A	uc001tbh.2	-	17	3190	c.3009C>T	c.(3007-3009)ATC>ATT	p.I1003I	ATP2B1_uc001tbg.2_Silent_p.I1003I|ATP2B1_uc001tbf.2_Silent_p.I673I	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1003	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CATTGTTAAAGATTCCTTCGA	0.343		NaN											0	0	0	1	0	17	45				
ANO4	121601	broad.mit.edu	37	12	101442134	101442134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101442134G>A	uc010svm.1	+	14	1839	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	ANO4_uc001thw.2_Missense_Mutation_p.D388N|ANO4_uc001thx.2_Missense_Mutation_p.D423N|ANO4_uc001thy.2_5'UTR	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	423	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CCACCTTTTTGACAATGGAGC	0.343		NaN								HNSCC(74;0.22)			0	0	0	1	0	15	65				
UTP20	27340	broad.mit.edu	37	12	101702091	101702091	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101702091G>C	uc001tia.1	+	18	2280	c.2124G>C	c.(2122-2124)CAG>CAC	p.Q708H		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	708					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ATGTGGTACAGACTGCTGTCC	0.383		NaN											0	0	0	1	0	14	52				
CMKLR1	1240	broad.mit.edu	37	12	108685927	108685927	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:108685927G>A	uc009zuw.2	-	3	1004	c.813C>T	c.(811-813)CTC>CTT	p.L271L	CMKLR1_uc001tmw.2_Silent_p.L271L|CMKLR1_uc001tmv.2_Silent_p.L269L|CMKLR1_uc009zuv.2_Silent_p.L271L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	271	Helical; Name=6; (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						GGCACCAGCAGAGGAAGAAGG	0.562		NaN											0	0	0	1	0	8	39				
ACACB	32	broad.mit.edu	37	12	109577219	109577219	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:109577219G>A	uc001tob.2	+	2	128	c.9G>A	c.(7-9)TTG>TTA	p.L3L	ACACB_uc001toc.2_Silent_p.L3L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	3					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GAATGGTCTTGCTTCTTTGTC	0.388		NaN											0	0	0	1	0	24	31				
ACAD10	80724	broad.mit.edu	37	12	112187122	112187122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:112187122G>C	uc001tsq.2	+	18	2990	c.2790G>C	c.(2788-2790)GAG>GAC	p.E930D	ACAD10_uc009zvx.2_Missense_Mutation_p.E961D|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	930							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGTTCTCAGAGAGGGCCCTGG	0.617		NaN											0	0	0	1	0	11	65				
OAS1	4938	broad.mit.edu	37	12	113348980	113348980	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:113348980G>A	uc001tud.2	+	3	700	c.594G>A	c.(592-594)CTG>CTA	p.L198L	OAS1_uc010syn.1_Silent_p.L197L|OAS1_uc010syo.1_Missense_Mutation_p.E182K|OAS1_uc001tub.2_Silent_p.L198L|OAS1_uc001tuc.2_Silent_p.L198L|OAS1_uc009zwf.2_Silent_p.L197L	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	198					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GAGACTTCCTGAAGCAGCGCC	0.562		NaN											0	0	0	1	0	12	64				
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121454196C>T	uc001tzh.1	-	1	105	c.82G>A	c.(82-84)GAG>AAG	p.E28K	C12orf43_uc009zxa.1_Missense_Mutation_p.E28K|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.E28K|C12orf43_uc001tzi.1_Missense_Mutation_p.E28K	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	28											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637		NaN											0	0	0	1	0	18	38				
CAMKK2	10645	broad.mit.edu	37	12	121711915	121711915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121711915G>C	uc001tzu.2	-	2	539	c.415C>G	c.(415-417)CGG>GGG	p.R139G	CAMKK2_uc001tzt.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzv.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzw.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzx.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzy.2_Missense_Mutation_p.R139G|CAMKK2_uc001uaa.1_Missense_Mutation_p.R139G|CAMKK2_uc001uab.2_Missense_Mutation_p.R139G|CAMKK2_uc001uac.2_Missense_Mutation_p.R139G|CAMKK2_uc001uad.1_Missense_Mutation_p.R139G	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	139					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGGCAGCCGAGGCGAGGAC	0.697		NaN											0	0	0	1	0	3	6				
DNAH10	196385	broad.mit.edu	37	12	124298139	124298139	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:124298139C>A	uc001uft.3	+	19	3244	c.3219C>A	c.(3217-3219)CTC>CTA	p.L1073L	DNAH10_uc010tav.1_Silent_p.L615L|DNAH10_uc010taw.1_Silent_p.L558L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1073	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAACTTCTCAATGAGTCAG	0.428		NaN											1	0	1.08611e-07	1	1.16965e-07	12	51				
SCARB1	949	broad.mit.edu	37	12	125270804	125270804	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:125270804C>G	uc001ugo.3	-	11	1753	c.1500G>C	c.(1498-1500)TGG>TGC	p.W500C	SCARB1_uc001ugn.3_Intron|SCARB1_uc001ugm.3_Intron|SCARB1_uc010tbd.1_Intron|SCARB1_uc010tbe.1_Missense_Mutation_p.W459C|SCARB1_uc001ugp.3_Missense_Mutation_p.W500C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	500	Cytoplasmic (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GAGGTGGGCTCCAGGCTGCGG	0.672		NaN											0	0	0	1	0	8	34				
RAN	5901	broad.mit.edu	37	12	131357396	131357396	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:131357396G>T	uc001uir.2	+	3	117	c.52G>T	c.(52-54)GAT>TAT	p.D18Y	RAN_uc010tbk.1_5'UTR|RAN_uc010tbl.1_5'UTR|RAN_uc001uis.2_Missense_Mutation_p.D38Y	NM_006325	NP_006316	P62826	RAN_HUMAN	ras-related nuclear protein	18	GTP (By similarity).				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ATTGGTTGGTGATGGTGGTAC	0.423		NaN											1	0	1.56452e-12	1	1.76009e-12	19	119				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs28513925	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.294		NaN											0	0	0	1	0	15	45				
DDX51	317781	broad.mit.edu	37	12	132625003	132625003	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132625003C>T	uc001ujy.3	-	11	1677	c.1638G>A	c.(1636-1638)ATG>ATA	p.M546I		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	546	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTTCAGGATCATCCTCCTCT	0.627		NaN											0	0	0	1	0	25	69				
PXMP2	5827	broad.mit.edu	37	12	133277849	133277849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:133277849C>A	uc001ukt.2	+	4	478	c.413C>A	c.(412-414)TCA>TAA	p.S138*	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	138	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		AAAGACGCCTCAGCCTTCGCC	0.587		NaN											1	0	1.56452e-12	1	1.76009e-12	18	126				
EFHA1	221154	broad.mit.edu	37	13	22077089	22077089	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:22077089C>G	uc001uof.2	-	9	931	c.909G>C	c.(907-909)GTG>GTC	p.V303V	EFHA1_uc010tct.1_Silent_p.V93V	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	303	EF-hand 3.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		ACTTCTCTCTCACATTTTTCC	0.313		NaN											0	0	0	1	0	9	70				
SPATA13	221178	broad.mit.edu	37	13	24868970	24868970	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24868970G>C	uc001upg.1	+	9	1706	c.1299G>C	c.(1297-1299)AAG>AAC	p.K433N	SPATA13_uc001upd.1_Missense_Mutation_p.K1058N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.K379N|SPATA13_uc010tcz.1_Missense_Mutation_p.K317N|SPATA13_uc010tda.1_Missense_Mutation_p.K377N|SPATA13_uc001uph.2_Missense_Mutation_p.K355N|SPATA13_uc010tdb.1_Missense_Mutation_p.K293N|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	433					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCATCGACAAGATAGCTCGCT	0.547		NaN											0	0	0	1	0	9	57				
C1QTNF9	338872	broad.mit.edu	37	13	24890172	24890172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24890172G>A	uc001upj.2	+	2	92	c.31G>A	c.(31-33)GAA>AAA	p.E11K	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	11						collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCTTGCCATTGAAATCTGCAC	0.517		NaN											0	0	0	1	0	12	97				
ATP12A	479	broad.mit.edu	37	13	25266996	25266996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25266996G>A	uc001upp.2	+	10	1526	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	ATP12A_uc010aaa.2_Missense_Mutation_p.E453K	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	447	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TAACCGAGCAGAGTTCAAGCC	0.463		NaN											0	0	0	1	0	38	267				
FAM123A	219287	broad.mit.edu	37	13	25744264	25744264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25744264G>C	uc001uqb.2	-	1	1594	c.1494C>G	c.(1492-1494)ATC>ATG	p.I498M	FAM123A_uc001uqa.2_Missense_Mutation_p.I379M|FAM123A_uc001uqc.2_Missense_Mutation_p.I379M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	498										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGGGGCTCGATGGGAATCC	0.647		NaN											0	0	0	1	0	8	62				
FRY	10129	broad.mit.edu	37	13	32811880	32811880	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32811880G>C	uc001utx.2	+	44	6671	c.6175G>C	c.(6175-6177)GAA>CAA	p.E2059Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTGAGTTTGAATACTTAAT	0.498		NaN											0	0	0	1	0	12	63				
BRCA2	675	broad.mit.edu	37	13	32915107	32915107	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32915107G>T	uc001uub.1	+	11	6842	c.6615G>T	c.(6613-6615)GTG>GTT	p.V2205V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2205					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGTTCCTGTGAAAACAAATA	0.323		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			1	0	3.67414e-24	1	4.24328e-24	35	80				
KL	9365	broad.mit.edu	37	13	33628033	33628033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:33628033C>G	uc001uus.2	+	2	957	c.949C>G	c.(949-951)CAA>GAA	p.Q317E	KL_uc001uur.1_Missense_Mutation_p.Q10E	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	317	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAAGAATGTCAAAAATCTCT	0.453		NaN											0	0	0	1	0	61	125				
FREM2	341640	broad.mit.edu	37	13	39433440	39433440	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:39433440A>G	uc001uwv.2	+	14	7541	c.7232A>G	c.(7231-7233)TAT>TGT	p.Y2411C	FREM2_uc001uww.2_Missense_Mutation_p.Y497C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2411	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACCCCAAATATTCAGACTAC	0.483		NaN											0	0	0	1	0	33	119				
MRPS31	10240	broad.mit.edu	37	13	41341064	41341064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:41341064C>G	uc001uxm.3	-	2	333	c.258G>C	c.(256-258)GAG>GAC	p.E86D		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	86						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGTCTTGGCTCTCTGAAGTCT	0.373		NaN											0	0	0	1	0	28	75				
RB1	5925	broad.mit.edu	37	13	48947603	48947603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:48947603C>G	uc001vcb.2	+	12	1356	c.1190C>G	c.(1189-1191)TCA>TGA	p.S397*	RB1_uc010act.1_Nonsense_Mutation_p.S98*	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	397	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.S397fs*1(2)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCAACCTTCAGAAAATCTG	0.289		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	1	0	20	172		Invalid		
KLF5	688	broad.mit.edu	37	13	73636016	73636016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:73636016G>C	uc001vje.2	+	2	603	c.279G>C	c.(277-279)GAG>GAC	p.E93D	KLF5_uc001vjd.2_Missense_Mutation_p.E2D	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	93					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GTGAAATGGAGAAGTATCTGA	0.408		NaN											0	0	0	1	0	21	132		Valid		
SCEL	8796	broad.mit.edu	37	13	78130748	78130748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:78130748C>G	uc001vki.2	+	3	231	c.61C>G	c.(61-63)CAG>GAG	p.Q21E	SCEL_uc001vkj.2_Missense_Mutation_p.Q21E|SCEL_uc010thx.1_Missense_Mutation_p.Q21E	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	21					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGCACCACTCAGGGAACCAC	0.433		NaN											0	0	0	1	0	42	260				
MBNL2	10150	broad.mit.edu	37	13	97986587	97986587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:97986587C>T	uc010aft.2	+	3	1048	c.232C>T	c.(232-234)CAA>TAA	p.Q78*	MBNL2_uc001vmz.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vna.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Nonsense_Mutation_p.Q78*	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	78					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTTAAAAACTCAACTAGAAAT	0.398		NaN											0	0	0	1	0	22	54				
TPP2	7174	broad.mit.edu	37	13	103286425	103286425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103286425G>A	uc001vpi.3	+	11	1473	c.1370G>A	c.(1369-1371)GGA>GAA	p.G457E		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	457					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATGTGGAGGCATTGCC	0.453		NaN											0	0	0	1	0	21	73				
C13orf39	196541	broad.mit.edu	37	13	103343288	103343288	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103343288G>A	uc001vpj.2	-	2	163	c.157C>T	c.(157-159)CAT>TAT	p.H53Y	C13orf39_uc001vpk.2_Missense_Mutation_p.H53Y	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	53							methyltransferase activity				0						TGGAGGCTATGAAGAGATGGT	0.403		NaN											0	0	0	1	0	22	105				
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:111156284G>A	uc001vqx.2	+	44	4518	c.4229G>A	c.(4228-4230)CGA>CAA	p.R1410Q		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731		NaN											0	0	0	1	0	11	31				
CUL4A	8451	broad.mit.edu	37	13	113887597	113887597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:113887597G>A	uc010tjy.1	+	7	630	c.619G>A	c.(619-621)GAG>AAG	p.E207K	CUL4A_uc010tjx.1_Missense_Mutation_p.E107K|CUL4A_uc010agu.2_Missense_Mutation_p.E68K|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	207					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAGGAGCGGCGAGGCCGTGGA	0.542		NaN											0	0	0	1	0	10	57				
RASA3	22821	broad.mit.edu	37	13	114765114	114765114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:114765114C>T	uc001vui.2	-	20	2010	c.1879G>A	c.(1879-1881)GAG>AAG	p.E627K	RASA3_uc010tkk.1_Missense_Mutation_p.E595K|RASA3_uc001vuj.2_Missense_Mutation_p.E244K	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	627	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGGATGTTCTCGATGGGAATG	0.622		NaN											0	0	0	1	0	5	47				
TMEM55B	90809	broad.mit.edu	37	14	20928361	20928361	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:20928361G>T	uc001vxl.2	-	3	583	c.430C>A	c.(430-432)CGG>AGG	p.R144R	TMEM55B_uc001vxk.2_Silent_p.R151R	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	144						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTAGGGCCGAGGGCATGCA	0.488		NaN											1	0	4.26978e-12	1	4.79067e-12	23	32				
METTL3	56339	broad.mit.edu	37	14	21979365	21979365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:21979365T>C	uc001wbc.2	-	1	93	c.1A>G	c.(1-3)ATG>GTG	p.M1V	METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.M1V|METTL3_uc001wbd.1_Missense_Mutation_p.M1V	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	1					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTCCGACATCCTAGTCTCC	0.632		NaN											0	0	0	1	0	5	12				
C14orf106	55320	broad.mit.edu	37	14	45693438	45693438	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:45693438C>T	uc001wwf.2	-	11	2811	c.2352G>A	c.(2350-2352)AGG>AGA	p.R784R		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	784					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTTCAGCTTTCCTTTTAATTT	0.358		NaN											0	0	0	1	0	34	48				
POLE2	5427	broad.mit.edu	37	14	50117145	50117145	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:50117145G>T	uc001wwu.2	-	17	1349	c.1335C>A	c.(1333-1335)ATC>ATA	p.I445I	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.I159I|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.I160I	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	445					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTGGGATAAGATAGTCTTTA	0.358		NaN											1	0	2.35188e-11	1	2.62477e-11	19	55				
PSMC6	5706	broad.mit.edu	37	14	53178177	53178177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:53178177G>A	uc010tqx.1	+	6	418	c.418G>A	c.(418-420)GAC>AAC	p.D140N	PSMC6_uc010tqw.1_Missense_Mutation_p.D106N	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	126					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					GTCTCATGAGGACCCTGGGAA	0.393		NaN											0	0	0	1	0	48	62				
C14orf135	64430	broad.mit.edu	37	14	60591695	60591695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:60591695G>C	uc001xer.3	+	8	2626	c.2104G>C	c.(2104-2106)GAC>CAC	p.D702H	C14orf135_uc001xeq.2_Missense_Mutation_p.D702H|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	936						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATTTCCAGAAGACTGGTACCA	0.413		NaN											0	0	0	1	0	31	69				
C14orf50	145376	broad.mit.edu	37	14	65041219	65041219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:65041219G>C	uc001xhl.1	+	8	676	c.580G>C	c.(580-582)GAA>CAA	p.E194Q		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	194										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		AAGTGAATTAGAAGCAGCACA	0.433		NaN											0	0	0	1	0	16	51				
SIPA1L1	26037	broad.mit.edu	37	14	72200447	72200447	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:72200447C>T	uc001xms.2	+	19	5337	c.4989C>T	c.(4987-4989)CCC>CCT	p.P1663P	SIPA1L1_uc001xmt.2_Silent_p.P1642P|SIPA1L1_uc001xmu.2_Silent_p.P1642P|SIPA1L1_uc001xmv.2_Silent_p.P1663P|SIPA1L1_uc010ttm.1_Silent_p.P1117P|SIPA1L1_uc001xmw.2_Silent_p.P428P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1663					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCCTATGCCCGACCCTGGCC	0.587		NaN											0	0	0	1	0	13	23				
RBM25	58517	broad.mit.edu	37	14	73581010	73581010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73581010C>T	uc001xno.2	+	18	2616	c.2408C>T	c.(2407-2409)TCA>TTA	p.S803L	RBM25_uc010ttu.1_Missense_Mutation_p.S803L|RBM25_uc001xnp.2_Missense_Mutation_p.S598L	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	803	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCTCATAGTTCACCCCAGAGC	0.219		NaN											0	0	0	1	0	42	71				
PAPLN	89932	broad.mit.edu	37	14	73712862	73712862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73712862C>T	uc010ttx.1	+	4	476	c.313C>T	c.(313-315)CGG>TGG	p.R105W	PAPLN_uc001xnw.3_Missense_Mutation_p.R105W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R105W|uc001xnx.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	105						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCGGCGGTATCGGTGGCTGCC	0.667		NaN											0	0	0	1	0	3	9				
ACOT2	10965	broad.mit.edu	37	14	74036029	74036029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:74036029C>G	uc001xon.3	+	1	258	c.85C>G	c.(85-87)CGA>GGA	p.R29G	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_5'UTR	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGCTGTCCTTCGAGCGTCCCG	0.557		NaN											0	0	0	1	0	63	56				
DLST	1743	broad.mit.edu	37	14	75359643	75359643	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75359643G>C	uc001xqv.2	+	8	612	c.549G>C	c.(547-549)CAG>CAC	p.Q183H	DLST_uc001xqu.2_Missense_Mutation_p.Q95H|DLST_uc001xqt.2_Missense_Mutation_p.Q99H|DLST_uc010tuw.1_Missense_Mutation_p.Q97H|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.Q183H	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	183					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TACCCACTCAGATGCCACCGG	0.587		NaN											0	0	0	1	0	9	61				
EIF2B2	8892	broad.mit.edu	37	14	75470262	75470262	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75470262G>A	uc001xrc.1	+	3	375	c.293G>A	c.(292-294)GGA>GAA	p.G98E		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	98				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGACTCCATGGACGCAGCGAC	0.537		NaN											0	0	0	1	0	44	49				
EIF2B2	8892	broad.mit.edu	37	14	75475859	75475859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75475859G>A	uc001xrc.1	+	8	1106	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	342					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCTGATGAGTGAACTCTACCA	0.473		NaN											0	0	0	1	0	49	291				
FLVCR2	55640	broad.mit.edu	37	14	76045894	76045894	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:76045894C>T	uc001xrs.2	+	1	955	c.579C>T	c.(577-579)TTC>TTT	p.F193F		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	193	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGGTTTTCATCCTGGGCA	0.602		NaN											0	0	0	1	0	54	63				
TMEM63C	57156	broad.mit.edu	37	14	77712285	77712285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:77712285C>G	uc001xtf.2	+	17	1663	c.1451C>G	c.(1450-1452)TCA>TGA	p.S484*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.S484*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	484						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCTAGATCAAGTCAGAAT	0.418		NaN											0	0	0	1	0	12	160				
FAM181A	90050	broad.mit.edu	37	14	94394796	94394796	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:94394796C>A	uc001ybz.1	+	3	658	c.351C>A	c.(349-351)CTC>CTA	p.L117L	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.L55L|FAM181A_uc001yca.1_Silent_p.L55L	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	117											0						ATTCCCGGCTCCCGCGGGGCC	0.647		NaN											1	0	1.3612e-06	1	1.44492e-06	16	19				
GSC	145258	broad.mit.edu	37	14	95234906	95234906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:95234906C>T	uc001ydu.2	-	3	843	c.696G>A	c.(694-696)TGG>TGA	p.W232*		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	232					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		ACGTCTTGTTCCACTTCTCCG	0.597		NaN											0	0	0	1	0	24	178				
ATG2B	55102	broad.mit.edu	37	14	96792138	96792138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96792138C>T	uc001yfi.2	-	15	2650	c.2285G>A	c.(2284-2286)CGA>CAA	p.R762Q		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	762										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGATCAGATCGAAGATCAGG	0.383		NaN											0	0	0	1	0	37	118				
ATG2B	55102	broad.mit.edu	37	14	96807901	96807901	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96807901C>T	uc001yfi.2	-	6	1247	c.882G>A	c.(880-882)TTG>TTA	p.L294L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	294										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGTGAGACTCAACTCCAACC	0.388		NaN											0	0	0	1	0	83	84				
AK7	122481	broad.mit.edu	37	14	96944839	96944839	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96944839G>A	uc001yfn.2	+	15	1637	c.1593G>A	c.(1591-1593)CTG>CTA	p.L531L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	531					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGAGTTTCTGAAGGAGCGTG	0.542		NaN											0	0	0	1	0	22	164				
PAPOLA	10914	broad.mit.edu	37	14	97009217	97009217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:97009217G>A	uc001yfq.2	+	14	1486	c.1276G>A	c.(1276-1278)GAA>AAA	p.E426K	PAPOLA_uc001yfr.2_Missense_Mutation_p.E426K|PAPOLA_uc010twv.1_Missense_Mutation_p.E426K|PAPOLA_uc010avp.2_Missense_Mutation_p.E176K	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	426					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCACCCAAAGAAAATCCCGA	0.358		NaN											0	0	0	1	0	23	194				
RTL1	388015	broad.mit.edu	37	14	101348170	101348170	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:101348170C>T	uc010txj.1	-	1	3015	c.2956G>A	c.(2956-2958)GAA>AAA	p.E986K	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	986										pancreas(1)	1						CCGTCTTGTTCTGGCAGCTCC	0.582		NaN											0	0	0	1	0	22	140				
XRCC3	7517	broad.mit.edu	37	14	104165273	104165273	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104165273G>T	uc001yny.3	-	10	1283	c.903C>A	c.(901-903)CTC>CTA	p.L301L	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L301L|XRCC3_uc001ynz.3_Silent_p.L301L|XRCC3_uc001yoa.3_Silent_p.L301L	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	301					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTTCCTCGCGGAGCCGGTCAG	0.657		NaN						Direct_reversal_of_damage|Homologous_recombination					1	0	4.68919e-08	1	5.05854e-08	11	12				
PPP1R13B	23368	broad.mit.edu	37	14	104201510	104201510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104201510C>T	uc001yof.1	-	17	3537	c.3254G>A	c.(3253-3255)CGA>CAA	p.R1085Q	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	1085					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTCGCTGTCGGGGTTTGAT	0.577		NaN											0	0	0	1	0	13	78				
TDRD9	122402	broad.mit.edu	37	14	104464977	104464977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104464977G>C	uc001yom.3	+	13	1425	c.1395G>C	c.(1393-1395)TTG>TTC	p.L465F	TDRD9_uc001yon.3_Missense_Mutation_p.L203F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	465	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTTTTGTTTGACTAGAACTT	0.338		NaN											0	0	0	1	0	44	122				
MTA1	9112	broad.mit.edu	37	14	105927222	105927222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:105927222G>C	uc001yqx.2	+	10	1061	c.874G>C	c.(874-876)GAG>CAG	p.E292Q	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E206Q|MTA1_uc001yra.1_Missense_Mutation_p.E206Q|MTA1_uc001yrb.2_Missense_Mutation_p.E53Q	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	292	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCTGCATCAGAGGCCAACCT	0.577		NaN											0	0	0	1	0	17	51				
FMN1	342184	broad.mit.edu	37	15	33359341	33359341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:33359341G>A	uc001zhf.3	-	1	745	c.745C>T	c.(745-747)CAG>TAG	p.Q249*	FMN1_uc001zhg.2_Nonsense_Mutation_p.Q249*	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCGAATTCTGGTTTGTTACT	0.507		NaN											0	0	0	1	0	37	80				
C15orf55	256646	broad.mit.edu	37	15	34649344	34649344	+	Silent	SNP	C	C	T	rs7163178		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:34649344C>T	uc001zif.2	+	7	3206	c.3051C>T	c.(3049-3051)CTC>CTT	p.L1017L	C15orf55_uc010ucc.1_Silent_p.L1045L|C15orf55_uc010ucd.1_Silent_p.L1035L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1017						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ATGAGGAACTCTCCAACTTTG	0.502		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	1	0	13	50				
CASC5	57082	broad.mit.edu	37	15	40913088	40913088	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:40913088C>T	uc010bbs.1	+	11	865	c.704C>T	c.(703-705)TCA>TTA	p.S235L	CASC5_uc010ucq.1_Missense_Mutation_p.S59L|CASC5_uc001zme.2_Missense_Mutation_p.S209L|CASC5_uc010bbt.1_Missense_Mutation_p.S209L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	235	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACACTTCTTCAGAAAATAAA	0.308		NaN											0	0	0	1	0	10	49				
FAM82A2	55177	broad.mit.edu	37	15	41044242	41044242	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:41044242C>A	uc001zmo.1	-	3	466	c.322G>T	c.(322-324)GTG>TTG	p.V108L	FAM82A2_uc001zmp.1_Missense_Mutation_p.V108L|FAM82A2_uc001zmq.1_Missense_Mutation_p.V108L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	108	Potential.				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						AGCTCCTCCACCTCCCGCCGC	0.632		NaN											1	0	3.09899e-07	1	3.31189e-07	7	81				
MGA	23269	broad.mit.edu	37	15	42046702	42046702	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046702C>T	uc010ucy.1	+	18	7257	c.7076C>T	c.(7075-7077)TCA>TTA	p.S2359L	MGA_uc010ucz.1_Missense_Mutation_p.S2150L|MGA_uc010uda.1_Missense_Mutation_p.S975L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2320	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAGAGCTCTCAGAGGAAATT	0.383		NaN											0	0	0	1	0	3	5				
MGA	23269	broad.mit.edu	37	15	42046722	42046722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046722C>T	uc010ucy.1	+	18	7277	c.7096C>T	c.(7096-7098)CAC>TAC	p.H2366Y	MGA_uc010ucz.1_Missense_Mutation_p.H2157Y|MGA_uc010uda.1_Missense_Mutation_p.H982Y	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2327	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAATGTTGCTCACCTGAAGAC	0.398		NaN											0	0	0	1	0	3	4				
SPTBN5	51332	broad.mit.edu	37	15	42185575	42185575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42185575C>T	uc001zos.2	-	2	349	c.16G>A	c.(16-18)GAG>AAG	p.E6K	uc010bcp.1_RNA	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	41	Actin-binding.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGCCCGTCTCGTACTGAGAG	0.622		NaN											0	0	0	1	0	7	31				
TP53BP1	7158	broad.mit.edu	37	15	43739643	43739643	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43739643G>A	uc001zrs.2	-	13	2890	c.2742C>T	c.(2740-2742)ATC>ATT	p.I914I	TP53BP1_uc010udp.1_Silent_p.I914I|TP53BP1_uc001zrq.3_Silent_p.I919I|TP53BP1_uc001zrr.3_Silent_p.I919I|TP53BP1_uc010udq.1_Silent_p.I919I	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	914					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGTGGGATGATATCACCTT	0.323		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	1	0	32	59				
MAP1A	4130	broad.mit.edu	37	15	43814035	43814035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43814035G>A	uc001zrt.2	+	4	831	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	122						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTTACAGCGACTGGGTGAA	0.552		NaN											0	0	0	1	0	22	70				
EIF3J	8669	broad.mit.edu	37	15	44849735	44849735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44849735G>C	uc001ztv.2	+	6	585	c.458G>C	c.(457-459)AGA>ACA	p.R153T	EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.R104T	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	153						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CCATCTTCAAGAGATGACTTT	0.318		NaN											0	0	0	1	0	14	58				
SPG11	80208	broad.mit.edu	37	15	44900791	44900791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44900791C>A	uc001ztx.2	-	19	3335	c.3304G>T	c.(3304-3306)GAA>TAA	p.E1102*	SPG11_uc010ueh.1_Nonsense_Mutation_p.E1102*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1102*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1102	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATTTTCTTCATTCTGAACA	0.373		NaN											1	0	0.184627	1	0.184921	5	28				
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:45424173C>T	uc001zus.1	+	3	355	c.9C>T	c.(7-9)TTC>TTT	p.F3F	DUOXA1_uc001zup.2_5'Flank|DUOXA1_uc010bec.2_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	3					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCATGGGCTTCTGCCTGGCTC	0.507		NaN											0	0	0	1	0	16	66				
FBN1	2200	broad.mit.edu	37	15	48720649	48720649	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48720649C>T	uc001zwx.1	-	57	7219	c.6891G>A	c.(6889-6891)ACG>ACA	p.T2297T	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2297	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCCTGGCTTCGTCTGACATT	0.448		NaN											0	0	0	1	0	6	39				
FBN1	2200	broad.mit.edu	37	15	48791227	48791227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48791227G>C	uc001zwx.1	-	18	2450	c.2122C>G	c.(2122-2124)CAG>GAG	p.Q708E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	708	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGAGTGCCTGATATTCCGCT	0.453		NaN											0	0	0	1	0	22	105				
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:53081808C>A	uc002aci.1	-	1	402	c.274G>T	c.(274-276)GAG>TAG	p.E92*		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.657		NaN											1	0	3.09899e-07	1	3.31189e-07	9	12				
IGDCC4	57722	broad.mit.edu	37	15	65687479	65687479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:65687479C>T	uc002aou.1	-	8	1739	c.1529G>A	c.(1528-1530)GGA>GAA	p.G510E	IGDCC4_uc002aot.1_Missense_Mutation_p.G98E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	510	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GCGGCTGGCTCCCAGCTGGGA	0.567		NaN											0	0	0	1	0	9	28				
ITGA11	22801	broad.mit.edu	37	15	68596209	68596209	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:68596209G>T	uc002ari.2	-	29	3483	c.3396C>A	c.(3394-3396)ATC>ATA	p.I1132I	ITGA11_uc010bib.2_Silent_p.I1133I	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1132	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CTTGCTTGGAGATCTCAAACA	0.637		NaN											1	0	5.50884e-06	1	5.79878e-06	12	49				
TLE3	7090	broad.mit.edu	37	15	70347433	70347433	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:70347433G>T	uc002asm.2	-	15	2661	c.1542C>A	c.(1540-1542)ATC>ATA	p.I514I	TLE3_uc002ask.2_Silent_p.I441I|TLE3_uc002asl.2_Silent_p.I514I|TLE3_uc010ukd.1_Silent_p.I504I|TLE3_uc010bik.1_Silent_p.I95I|TLE3_uc010bil.1_Silent_p.I511I|TLE3_uc002asn.2_Silent_p.I502I|TLE3_uc002asp.2_Silent_p.I506I|TLE3_uc002aso.2_Silent_p.I509I	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	514	WD 1.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CTGGCTGGCTGATGTCCCAGA	0.632		NaN											1	0	0.00116845	1	0.00119403	6	17				
NEO1	4756	broad.mit.edu	37	15	73409170	73409170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:73409170C>T	uc002avm.3	+	2	562	c.420C>T	c.(418-420)ATC>ATT	p.I140I	NEO1_uc010ukx.1_Silent_p.I140I|NEO1_uc010uky.1_Silent_p.I140I|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	140	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GAACTATTATCAGTAGAACAG	0.333		NaN											0	0	0	1	0	19	73				
UBL7	84993	broad.mit.edu	37	15	74749005	74749005	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74749005G>T	uc002axw.1	-	3	354	c.192C>A	c.(190-192)ATC>ATA	p.I64I	UBL7_uc002axx.1_Silent_p.I104I|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.I64I|UBL7_uc002axz.1_Silent_p.I64I	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	64	Ubiquitin-like.						protein binding			ovary(1)	1						GACCACAGTAGATCAGATCTA	0.418		NaN											1	0	0.000151284	1	0.000156888	12	87				
UBL7	84993	broad.mit.edu	37	15	74751198	74751198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74751198G>A	uc002axw.1	-	2	173	c.11C>T	c.(10-12)TCA>TTA	p.S4L	UBL7_uc002axx.1_Missense_Mutation_p.S44L|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Missense_Mutation_p.S4L|UBL7_uc002axz.1_Missense_Mutation_p.S4L|uc002aya.2_5'Flank|uc002ayb.2_5'Flank	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	4							protein binding			ovary(1)	1						GTGCCAGTCTGAGAGAGACAT	0.527		NaN											0	0	0	1	0	23	106				
SCAPER	49855	broad.mit.edu	37	15	77057793	77057793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:77057793G>A	uc002bby.2	-	12	1557	c.1498C>T	c.(1498-1500)CGT>TGT	p.R500C	SCAPER_uc002bbx.2_Missense_Mutation_p.R254C|SCAPER_uc002bbz.1_Missense_Mutation_p.R371C|SCAPER_uc002bca.1_Missense_Mutation_p.R365C|SCAPER_uc002bcb.1_Missense_Mutation_p.R506C|SCAPER_uc002bcc.1_Missense_Mutation_p.R500C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	499	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CAAGACTCACGAGCTGTTCAG	0.393		NaN											0	0	0	1	0	16	34				
SH2D7	646892	broad.mit.edu	37	15	78386496	78386496	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:78386496C>T	uc010blb.1	+	2	219	c.219C>T	c.(217-219)TTC>TTT	p.F73F		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	73	SH2.										0						TTGGTTCCTTCCTTATCCGCC	0.567		NaN											0	0	0	1	0	3	10				
FAH	2184	broad.mit.edu	37	15	80465456	80465456	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:80465456C>T	uc002bfj.2	+	10	889	c.807C>T	c.(805-807)CTC>CTT	p.L269L	FAH_uc002bfk.1_Silent_p.L269L|FAH_uc002bfm.1_Silent_p.L269L|FAH_uc002bfn.1_Silent_p.L199L	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TGGATGCTCTCATGCCCTTTG	0.577		NaN							Tyrosinemia_type_1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	37	87				
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:85400425G>A	uc002ble.2	+	6	3229	c.3062G>A	c.(3061-3063)CGA>CAA	p.R1021Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647		NaN											0	0	0	1	0	5	46				
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89382250G>A	uc010upo.1	+	3	801	c.427G>A	c.(427-429)GAG>AAG	p.E143K	ACAN_uc002bmx.2_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	143					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622		NaN											0	0	0	1	0	22	95				
POLG	5428	broad.mit.edu	37	15	89867416	89867416	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89867416C>A	uc002bns.3	-	11	2274	c.1992G>T	c.(1990-1992)GGG>GGT	p.G664G	POLG_uc002bnr.3_Silent_p.G664G	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	664					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGCTGCTTCCCCTGTTCGA	0.502		NaN						DNA_polymerases_(catalytic_subunits)					1	0	0.000157383	1	0.00016281	8	52				
C15orf42	90381	broad.mit.edu	37	15	90127692	90127692	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:90127692C>G	uc002boe.2	+	3	1110	c.1110C>G	c.(1108-1110)AGC>AGG	p.S370R		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	370					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGAGGAGAGCACAGCAACTC	0.502		NaN											0	0	0	1	0	17	63				
UNC45A	55898	broad.mit.edu	37	15	91483662	91483662	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:91483662C>T	uc002bqg.2	+	6	986	c.646C>T	c.(646-648)CTG>TTG	p.L216L	UNC45A_uc002bqd.2_Silent_p.L201L|UNC45A_uc010uqo.1_Silent_p.L208L|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.L216L	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	216					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTGGCGGCTCTGCGTACGCT	0.532		NaN											0	0	0	1	0	16	59				
RGMA	56963	broad.mit.edu	37	15	93595352	93595352	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:93595352C>T	uc002bss.1	-	3	788	c.516G>A	c.(514-516)AGG>AGA	p.R172R	RGMA_uc002bsq.1_Silent_p.R156R|RGMA_uc010boi.1_Silent_p.R63R|RGMA_uc002bsr.1_Silent_p.R63R|RGMA_uc010urc.1_Silent_p.R180R	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	172					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGGTGAAAGTCCTGAGGTGTG	0.602		NaN											0	0	0	1	0	6	19				
SYNM	23336	broad.mit.edu	37	15	99672778	99672778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:99672778C>T	uc002bup.2	+	6	4333	c.4213C>T	c.(4213-4215)CGA>TGA	p.R1405*	SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1405	Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TAGGCACATTCGACTAGGTCC	0.517		NaN											0	0	0	1	0	49	172				
RHBDF1	64285	broad.mit.edu	37	16	109026	109026	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:109026C>T	uc002cfl.3	-	20	2242	c.2094G>A	c.(2092-2094)CTG>CTA	p.L698L		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	698	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACACCACTCAGCAGGTAGA	0.617		NaN											0	0	0	1	0	7	77				
RHBDF1	64285	broad.mit.edu	37	16	113674	113674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:113674C>T	uc002cfl.3	-	7	521	c.373G>A	c.(373-375)GAC>AAC	p.D125N	RHBDF1_uc010uty.1_Missense_Mutation_p.D148N|RHBDF1_uc010utz.1_Missense_Mutation_p.D125N|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	125	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGGGCAGGTCCAGCTCCCGG	0.647		NaN											0	0	0	1	0	15	45				
WDR24	84219	broad.mit.edu	37	16	735939	735939	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:735939G>C	uc002ciz.1	-	5	2263	c.1503C>G	c.(1501-1503)GAC>GAG	p.D501E	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	631										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CTTTGCTGCGGTCCAGCCGCG	0.642		NaN											0	0	0	1	0	16	118				
TELO2	9894	broad.mit.edu	37	16	1544331	1544331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:1544331C>G	uc002cly.2	+	2	340	c.49C>G	c.(49-51)CAT>GAT	p.H17D	TELO2_uc010uvg.1_Missense_Mutation_p.H17D	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	17						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GGAAGCCATTCATGCCCTCTC	0.622		NaN									OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	61	120				
RPS2	6187	broad.mit.edu	37	16	2012818	2012818	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2012818G>A	uc002cnn.2	-	4	656	c.468C>T	c.(466-468)ATC>ATT	p.I156I	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Intron|RPS2_uc002cnm.2_Intron|RPS2_uc002cno.2_Silent_p.I156I|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	156	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome				0						GCTTGGCCAGGATGATGGCCC	0.607		NaN											0	0	0	1	0	8	38				
NTHL1	4913	broad.mit.edu	37	16	2090035	2090035	+	Nonsense_Mutation	SNP	C	C	A	rs71716587		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2090035C>A	uc002col.1	-	6	848	c.829G>T	c.(829-831)GAG>TAG	p.E277*	NTHL1_uc002com.1_Nonsense_Mutation_p.E278*	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	277					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCATTGATCTCGTGCCACAGC	0.662		NaN						BER_DNA_glycosylases					1	0	1.16021e-09	1	1.28009e-09	28	71				
CASKIN1	57524	broad.mit.edu	37	16	2237188	2237188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2237188C>A	uc010bsg.1	-	8	846	c.814G>T	c.(814-816)GAG>TAG	p.E272*		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	272					signal transduction	cytoplasm				skin(2)	2						TGCTTGATCTCCCTGCTGGCC	0.667		NaN											1	0	1.5842e-08	1	1.72077e-08	14	53				
DNASE1L2	1775	broad.mit.edu	37	16	2286829	2286829	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2286829C>T	uc002cpo.2	+	1	406	c.12C>T	c.(10-12)CCC>CCT	p.P4P	DNASE1L2_uc002cpn.2_Silent_p.P4P|DNASE1L2_uc002cpp.2_Silent_p.P4P|DNASE1L2_uc002cpq.2_Silent_p.P4P	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	4					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						TGGGCGGGCCCCGGGCTCTGC	0.706		NaN											0	0	0	1	0	4	9				
SRRM2	23524	broad.mit.edu	37	16	2808485	2808485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2808485C>G	uc002crk.2	+	5	1079	c.530C>G	c.(529-531)TCT>TGT	p.S177C	SRRM2_uc002crj.1_Missense_Mutation_p.S81C|SRRM2_uc002crl.1_Missense_Mutation_p.S177C|SRRM2_uc010bsu.1_Missense_Mutation_p.S81C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	177	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTTCGGGAGTCTAGCAGTTCT	0.363		NaN											0	0	0	1	0	22	188				
DNAJA3	9093	broad.mit.edu	37	16	4500496	4500496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4500496C>G	uc002cwk.2	+	10	1362	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	DNAJA3_uc002cwl.2_Missense_Mutation_p.S446C|DNAJA3_uc010uxk.1_Missense_Mutation_p.S293C	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	446					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						CTCACCAGCTCTGGTAAGGAG	0.607		NaN											0	0	0	1	0	5	8				
PPL	5493	broad.mit.edu	37	16	4933533	4933533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4933533G>C	uc002cyd.1	-	22	5213	c.5123C>G	c.(5122-5124)TCA>TGA	p.S1708*		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1708	Plectin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTGTATCACTGAGGACTCCCC	0.557		NaN											0	0	0	1	0	20	57				
FAM18A	780776	broad.mit.edu	37	16	10911962	10911962	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:10911962G>A	uc010buo.1	-	2	358	c.87C>T	c.(85-87)ATC>ATT	p.I29I	FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_Intron|FAM18A_uc002daf.1_RNA	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	29						integral to membrane					0						CAACACACCTGATCTTGGCTT	0.428		NaN											0	0	0	1	0	3	10				
CLEC16A	23274	broad.mit.edu	37	16	11145494	11145494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:11145494G>A	uc002dao.2	+	18	2221	c.1991G>A	c.(1990-1992)CGG>CAG	p.R664Q	CLEC16A_uc002dan.3_Missense_Mutation_p.R646Q	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	664										ovary(1)|central_nervous_system(1)	2						GAGAAGACCCGGCGGGTGAGT	0.602		NaN											0	0	0	1	0	17	83				
NOMO1	23420	broad.mit.edu	37	16	14958467	14958467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:14958467G>C	uc002dcv.2	+	13	1487	c.1421G>C	c.(1420-1422)AGA>ACA	p.R474T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	474	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						GCAGAAACCAGAGCAGGGCTG	0.532		NaN											0	0	0	1	0	74	212				
ABCC1	4363	broad.mit.edu	37	16	16103752	16103752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:16103752C>G	uc010bvi.2	+	3	520	c.345C>G	c.(343-345)ATC>ATG	p.I115M	ABCC1_uc010bvj.2_Missense_Mutation_p.I115M|ABCC1_uc010bvk.2_Missense_Mutation_p.I115M|ABCC1_uc010bvl.2_Missense_Mutation_p.I115M|ABCC1_uc010bvm.2_Missense_Mutation_p.I115M|ABCC1_uc002del.3_Translation_Start_Site	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	115	Helical; Name=3.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTTGGGCATCACCATGGTAA	0.507		NaN											0	0	0	1	0	19	75				
DNAH3	55567	broad.mit.edu	37	16	20976008	20976008	+	Missense_Mutation	SNP	G	G	C	rs61746919	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20976008G>C	uc010vbe.1	-	53	9198	c.9198C>G	c.(9196-9198)ATC>ATG	p.I3066M	DNAH3_uc010vbd.1_Missense_Mutation_p.I501M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3066	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TGCCATTGTCGATGGAGAAGG	0.502		NaN											0	0	0	1	0	16	70				
DNAH3	55567	broad.mit.edu	37	16	20996973	20996973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20996973C>T	uc010vbe.1	-	48	7091	c.7091G>A	c.(7090-7092)GGA>GAA	p.G2364E	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAAATAATCTCCAAAGAAGAG	0.433		NaN											0	0	0	1	0	42	112				
DNAH3	55567	broad.mit.edu	37	16	21115865	21115865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:21115865C>A	uc010vbe.1	-	16	2293	c.2293G>T	c.(2293-2295)GAA>TAA	p.E765*	DNAH3_uc002die.2_Nonsense_Mutation_p.E719*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	765	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAGATATCTTCAATCTGGTCT	0.478		NaN											1	0	6.68952e-21	1	7.69753e-21	48	117				
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637		NaN											0	0	0	1	0	9	44				
USP31	57478	broad.mit.edu	37	16	23119406	23119406	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23119406G>C	uc002dll.2	-	2	732	c.732C>G	c.(730-732)CTC>CTG	p.L244L		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTGAATGGTTGAGGTCTTCAT	0.512		NaN											0	0	0	1	0	20	46				
UBFD1	56061	broad.mit.edu	37	16	23581875	23581875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23581875C>G	uc002dlv.2	+	7	1096	c.894C>G	c.(892-894)ATC>ATG	p.I298M		NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	298											0				GBM - Glioblastoma multiforme(48;0.0331)		TGGATGCAATCAAAGACACTG	0.512		NaN											0	0	0	1	0	20	120				
RBBP6	5930	broad.mit.edu	37	16	24566966	24566966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:24566966G>A	uc002dmh.2	+	5	1419	c.379G>A	c.(379-381)GAA>AAA	p.E127K	RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.2_Missense_Mutation_p.E127K|RBBP6_uc010bxr.2_Missense_Mutation_p.E127K|RBBP6_uc002dmk.2_5'UTR	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	127					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CAATGCTTCTGAAGAAGATAA	0.363		NaN											0	0	0	1	0	21	120				
ZKSCAN2	342357	broad.mit.edu	37	16	25251684	25251684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:25251684C>T	uc002dod.3	-	7	2764	c.2357G>A	c.(2356-2358)AGA>AAA	p.R786K	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R582K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	786	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GCTCCTGCTTCTACCAAAGCA	0.453		NaN											0	0	0	1	0	15	68				
IL21R	50615	broad.mit.edu	37	16	27456503	27456503	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:27456503A>G	uc002doq.1	+	7	924	c.691A>G	c.(691-693)AAG>GAG	p.K231E	IL21R_uc002dor.1_Missense_Mutation_p.K231E|IL21R_uc002dos.1_Missense_Mutation_p.K231E	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	231	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						CCCAGAGTTAAAGGAAGGCTG	0.532		NaN	T	BCL6	NHL								0	0	0	1	0	11	31				
SBK1	388228	broad.mit.edu	37	16	28331409	28331409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:28331409G>T	uc002dpd.2	+	4	1231	c.442G>T	c.(442-444)GAG>TAG	p.E148*		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	148	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GGGGCTCCCTGAGGACACGGT	0.711		NaN											1	0	0.184627	1	0.184921	4	12				
MVP	9961	broad.mit.edu	37	16	29852916	29852916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:29852916G>A	uc002dui.2	+	9	1276	c.1192_splice	c.e9-1	p.V398_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_Splice_Site|MVP_uc002duj.2_Splice_Site_p.V398_splice|MVP_uc010vea.1_Splice_Site	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein						mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CTCGTCCCAAGGTGCGCGCTG	0.637		NaN											0	0	0	1	0	9	28				
ALDOA	226	broad.mit.edu	37	16	30078815	30078815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30078815G>A	uc002dvw.2	+	6	1285	c.157G>A	c.(157-159)GAG>AAG	p.E53K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E53K|ALDOA_uc002dvy.2_Missense_Mutation_p.E53K|ALDOA_uc002dvz.2_Missense_Mutation_p.E53K|ALDOA_uc002dwa.3_Missense_Mutation_p.E53K|ALDOA_uc002dwb.1_Missense_Mutation_p.E53K|ALDOA_uc002dwc.2_Missense_Mutation_p.E53K|ALDOA_uc010veg.1_Missense_Mutation_p.E107K|ALDOA_uc002dwd.2_Missense_Mutation_p.E53K	NM_184043	NP_908932	P04075	ALDOA_HUMAN	fructose-bisphosphate aldolase A	53					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			lung(1)	1						CGAGAACACCGAGGAGAACCG	0.607		NaN											0	0	0	1	0	9	48				
ZNF688	146542	broad.mit.edu	37	16	30581606	30581606	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581606G>C	uc002dyt.2	-	3	1240	c.462C>G	c.(460-462)CCC>CCG	p.P154P	ZNF688_uc002dys.2_Silent_p.P140P|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGCATTTTTGGGTGGCTGTG	0.647		NaN											0	0	0	1	0	9	29				
ZNF688	146542	broad.mit.edu	37	16	30581750	30581750	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581750G>T	uc002dyt.2	-	3	1096	c.318C>A	c.(316-318)GTC>GTA	p.V106V	ZNF688_uc002dys.2_Silent_p.V92V|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCTGTTTGGGACATCTCCTG	0.488		NaN											1	0	6.53275e-17	1	7.46262e-17	13	57				
SRCAP	10847	broad.mit.edu	37	16	30732788	30732788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30732788C>T	uc002dze.1	+	21	3917	c.3532C>T	c.(3532-3534)CGC>TGC	p.R1178C	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1035C|SRCAP_uc010bzz.1_Missense_Mutation_p.R748C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1178	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TATGCAGGCTCGCCTGCCCTG	0.552		NaN											0	0	0	1	0	8	51		Valid		
ZNF629	23361	broad.mit.edu	37	16	30795476	30795476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30795476G>C	uc002dzs.1	-	3	381	c.173C>G	c.(172-174)TCA>TGA	p.S58*		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CATCTCTGTTGAGTCCTTGGA	0.597		NaN											0	0	0	1	0	4	15				
FBXL19	54620	broad.mit.edu	37	16	30953717	30953717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30953717C>G	uc002eab.2	+	9	1705	c.1547C>G	c.(1546-1548)TCT>TGT	p.S516C	FBXL19_uc002dzz.1_Missense_Mutation_p.S204C|FBXL19_uc002eaa.1_Missense_Mutation_p.S415C	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	516	LRR 1.						DNA binding|zinc ion binding	p.E516K(1)		ovary(2)|lung(1)|breast(1)	4						CTGGTGCTCTCTGGCTGCTCC	0.662		NaN									OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	3	16				
TRIM72	493829	broad.mit.edu	37	16	31235662	31235662	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:31235662C>G	uc002ebn.1	+	7	1249	c.1020C>G	c.(1018-1020)CTC>CTG	p.L340L	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	340	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						ACCAGCAGCTCTCCGAGGGCG	0.622		NaN											0	0	0	1	0	5	11				
LONP2	83752	broad.mit.edu	37	16	48286111	48286111	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:48286111G>A	uc002efi.1	+	2	392	c.303G>A	c.(301-303)TTG>TTA	p.L101L	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L101L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	101	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						ACACTCTGTTGATTACAGGCC	0.488		NaN											0	0	0	1	0	7	54				
CHD9	80205	broad.mit.edu	37	16	53288467	53288467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:53288467G>A	uc002ehb.2	+	17	4143	c.3979G>A	c.(3979-3981)GAT>AAT	p.D1327N	CHD9_uc002egy.2_Missense_Mutation_p.D1327N|CHD9_uc002ehc.2_Missense_Mutation_p.D1327N|CHD9_uc002ehf.2_Missense_Mutation_p.D441N|CHD9_uc002ehd.2_Missense_Mutation_p.D853N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1327	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACTGGGCCTAGATAAAGCTGT	0.388		NaN											0	0	0	1	0	34	258				
GPR114	221188	broad.mit.edu	37	16	57608778	57608778	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57608778C>T	uc002elx.3	+	11	1345	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G	GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	420	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TGGGCTACGGCGGCCTCACGT	0.701		NaN											0	0	0	1	0	8	57				
KATNB1	10300	broad.mit.edu	37	16	57787356	57787356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57787356G>A	uc002eml.1	+	12	1476	c.1102G>A	c.(1102-1104)GAC>AAC	p.D368N		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	368	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GGATGACCGGGACGAGCGCGA	0.667		NaN											0	0	0	1	0	21	42				
CNOT1	23019	broad.mit.edu	37	16	58592477	58592477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58592477G>C	uc002env.2	-	18	2525	c.2232C>G	c.(2230-2232)TTC>TTG	p.F744L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F744L|CNOT1_uc002enx.2_Missense_Mutation_p.F744L|CNOT1_uc002enz.1_Missense_Mutation_p.F173L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	744					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGGGGTACTGAATGCAGAAC	0.493		NaN											0	0	0	1	0	10	54				
CNOT1	23019	broad.mit.edu	37	16	58608559	58608559	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608559G>T	uc002env.2	-	16	2226	c.1933C>A	c.(1933-1935)CCA>ACA	p.P645T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P645T|CNOT1_uc002enx.2_Missense_Mutation_p.P645T|CNOT1_uc002enz.1_Missense_Mutation_p.P74T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	645					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGTTTCTGGAGGAAGTTGA	0.408		NaN											1	0	2.32078e-09	1	2.5472e-09	15	115				
CNOT1	23019	broad.mit.edu	37	16	58608568	58608568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608568G>C	uc002env.2	-	16	2217	c.1924C>G	c.(1924-1926)CAA>GAA	p.Q642E	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q642E|CNOT1_uc002enx.2_Missense_Mutation_p.Q642E|CNOT1_uc002enz.1_Missense_Mutation_p.Q71E	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	642					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAGGAAGTTGAGCACTTTTG	0.433		NaN											0	0	0	1	0	14	108				
TRADD	8717	broad.mit.edu	37	16	67190499	67190499	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67190499G>A	uc002eri.1	-	2	145	c.65C>T	c.(64-66)TCG>TTG	p.S22L	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Missense_Mutation_p.S22L	NM_003789	NP_003780	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	22					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			lung(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTTGTCCAGCGAGGACTCCAC	0.617		NaN									OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	22	136				
HSF4	3299	broad.mit.edu	37	16	67201421	67201421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67201421G>A	uc002erl.1	+	10	1738	c.773G>A	c.(772-774)AGG>AAG	p.R258K	HSF4_uc002erm.1_Missense_Mutation_p.G263R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	258	Interactions with DUSP26, MAPK1 and MAPK2.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGCCAGGGGCCCCATC	0.607		NaN											0	0	0	1	0	38	98				
FHOD1	29109	broad.mit.edu	37	16	67265987	67265987	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67265987A>C	uc002esl.2	-	14	2269	c.2157T>G	c.(2155-2157)GCT>GCG	p.A719A	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A526A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	719	Interaction with ROCK1.|FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGTTGAGCAGAGCAGCCTTAA	0.567		NaN											0	0	0	1	0	4	49				
KCTD19	146212	broad.mit.edu	37	16	67327463	67327463	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67327463C>T	uc002esu.2	-	12	2253	c.2202G>A	c.(2200-2202)CAG>CAA	p.Q734Q	KCTD19_uc002est.2_Silent_p.Q506Q|KCTD19_uc010vjj.1_Silent_p.Q477Q	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	734						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGTCCTCTGCTTGCTCC	0.423		NaN											0	0	0	1	0	36	113				
CTCF	10664	broad.mit.edu	37	16	67671650	67671650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67671650G>T	uc002etl.2	+	12	2349	c.2059G>T	c.(2059-2061)GAA>TAA	p.E687*	CTCF_uc010cek.2_Nonsense_Mutation_p.E359*|CTCF_uc002etm.1_Nonsense_Mutation_p.E174*	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	687					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CATTATAGTTGAAGTAAAAAA	0.498		NaN											1	0	1.26484e-09	1	1.39432e-09	8	66				
HAS3	3038	broad.mit.edu	37	16	69143703	69143703	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143703C>T	uc010cfh.2	+	2	629	c.405C>T	c.(403-405)ATC>ATT	p.I135I	HAS3_uc002ewk.2_Silent_p.I135I|HAS3_uc010vlk.1_Silent_p.I135I|HAS3_uc002ewl.2_Silent_p.I135I	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	135	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCTGGACATCTTCCACGAGG	0.652		NaN											0	0	0	1	0	22	48				
HAS3	3038	broad.mit.edu	37	16	69143910	69143910	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143910C>G	uc010cfh.2	+	2	836	c.612C>G	c.(610-612)CTC>CTG	p.L204L	HAS3_uc002ewk.2_Silent_p.L204L|HAS3_uc010vlk.1_Silent_p.L204L|HAS3_uc002ewl.2_Silent_p.L204L	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	204	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCAAGGCCCTCGGCGATTCGG	0.602		NaN											0	0	0	1	0	16	27				
VPS4A	27183	broad.mit.edu	37	16	69354143	69354143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69354143G>C	uc002eww.2	+	7	848	c.720G>C	c.(718-720)GAG>GAC	p.E240D		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	240					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				ATGAAAATGAGAGTGAGGCCG	0.582		NaN											0	0	0	1	0	9	33				
DDX19B	11269	broad.mit.edu	37	16	70363869	70363869	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70363869C>T	uc002eyo.2	+	9	1050	c.921C>T	c.(919-921)ATC>ATT	p.I307I	DDX19B_uc010vly.1_Silent_p.I307I|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.I281I|DDX19B_uc010vlw.1_Silent_p.I198I|DDX19B_uc002eyp.2_Silent_p.I276I|DDX19B_uc002eyq.2_Silent_p.I198I|DDX19B_uc002eyr.2_Silent_p.I156I|DDX19B_uc010vlx.1_Silent_p.I156I|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	307	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				TGGACACCATCAAGCAGTACT	0.527		NaN											0	0	0	1	0	29	162				
HYDIN	54768	broad.mit.edu	37	16	70843817	70843817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843817C>T	uc002ezr.2	-	85	14877	c.14749G>A	c.(14749-14751)GAG>AAG	p.E4917K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4918										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGATAGAGCTCATATTGGTAG	0.468		NaN											0	0	0	1	0	131	352				
HYDIN	54768	broad.mit.edu	37	16	70843871	70843871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843871C>T	uc002ezr.2	-	85	14823	c.14695G>A	c.(14695-14697)GAA>AAA	p.E4899K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4900										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCGAAGGTTTCTCCAGCTTTC	0.473		NaN											0	0	0	1	0	118	287				
PHLPP2	23035	broad.mit.edu	37	16	71748679	71748679	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:71748679C>A	uc002fax.2	-	1	26	c.20G>T	c.(19-21)AGA>ATA	p.R7I	PHLPP2_uc010cgf.2_Missense_Mutation_p.R7I|PHLPP2_uc002fay.1_Missense_Mutation_p.R7I	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	7						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CAAACAATTTCTGCTCCCATT	0.393		NaN											1	0	2.39556e-15	1	2.72666e-15	21	40				
PMFBP1	83449	broad.mit.edu	37	16	72174473	72174473	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:72174473C>T	uc002fcc.3	-	6	817	c.645G>A	c.(643-645)GAG>GAA	p.E215E	PMFBP1_uc002fcd.2_Silent_p.E215E|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.E70E	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	215										ovary(2)	2		Ovarian(137;0.179)				CACCCTTGTTCTCAGGCTCCT	0.388		NaN											0	0	0	1	0	28	141				
KCNG4	93107	broad.mit.edu	37	16	84270993	84270993	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:84270993C>T	uc010voc.1	-	2	220	c.99G>A	c.(97-99)ACG>ACA	p.T33T	KCNG4_uc002fhu.1_Silent_p.T33T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	33	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TGATGGACGGCGTCTCCATGG	0.627		NaN											0	0	0	1	0	11	54				
KIAA0182	23199	broad.mit.edu	37	16	85691040	85691040	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:85691040C>A	uc002fix.2	+	8	1544	c.1470C>A	c.(1468-1470)CGC>CGA	p.R490R	KIAA0182_uc002fiw.2_Silent_p.R386R|KIAA0182_uc002fiy.2_Silent_p.R417R	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	490							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						TGATCCAGCGCACCAATGAGG	0.662		NaN											1	0	0.184627	1	0.184921	5	35				
ANKRD11	29123	broad.mit.edu	37	16	89346347	89346347	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89346347T>C	uc002fmx.1	-	9	7064	c.6603A>G	c.(6601-6603)GCA>GCG	p.A2201A	ANKRD11_uc002fmy.1_Silent_p.A2201A|ANKRD11_uc002fnc.1_Silent_p.A2201A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.A2158A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2201	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCTCGAGCTCTGCAGGGAGCC	0.687		NaN											0	0	0	1	0	4	19				
ZNF276	92822	broad.mit.edu	37	16	89789204	89789204	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89789204C>T	uc002fos.3	+	2	568	c.471C>T	c.(469-471)GTC>GTT	p.V157V	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V82V|ZNF276_uc002foq.3_Silent_p.V82V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCAGAGGGTCAACGCCTCCC	0.597		NaN											0	0	0	1	0	16	92				
SPIRE2	84501	broad.mit.edu	37	16	89922055	89922055	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89922055C>T	uc002foz.1	+	6	991	c.939C>T	c.(937-939)CTC>CTT	p.L313L	SPIRE2_uc010civ.1_Silent_p.L228L|SPIRE2_uc010ciw.1_Silent_p.L313L|SPIRE2_uc002fpa.1_Silent_p.L265L|SPIRE2_uc010cix.1_Silent_p.L180L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	313					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CTCACGAGCTCATCCTGGACT	0.667		NaN											0	0	0	1	0	17	39				
TUBB3	10381	broad.mit.edu	37	16	90001759	90001759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90001759G>A	uc002fph.1	+	4	965	c.900G>A	c.(898-900)ATG>ATA	p.M300I	TUBB3_uc002fpf.2_Missense_Mutation_p.M647I|TUBB3_uc010ciz.1_Missense_Mutation_p.M228I|TUBB3_uc002fpg.1_Missense_Mutation_p.M154I|TUBB3_uc002fpi.1_Missense_Mutation_p.M228I|TUBB3_uc002fpj.1_Missense_Mutation_p.M228I|TUBB3_uc010cjb.1_Missense_Mutation_p.M154I|TUBB3_uc002fpk.1_Missense_Mutation_p.M154I	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	300					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAACATGATGGCCGCCTGCG	0.692		NaN											0	0	0	1	0	38	119				
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90142264C>T	uc010cje.2	-	1	75	c.55G>A	c.(55-57)GAG>AAG	p.E19K	PRDM7_uc010cjf.2_5'UTR|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	19						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTCCGCTCTGTTCTCTCT	0.592		NaN											0	0	0	1	0	8	27				
TUSC5	286753	broad.mit.edu	37	17	1183494	1183494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1183494G>C	uc002fsi.1	+	1	538	c.199G>C	c.(199-201)GAG>CAG	p.E67Q		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	67					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632		NaN											0	0	0	1	0	16	43				
MYO1C	4641	broad.mit.edu	37	17	1374391	1374391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1374391G>A	uc002fsp.2	-	21	2406	c.2186C>T	c.(2185-2187)GCC>GTC	p.A729V	MYO1C_uc002fsn.2_Missense_Mutation_p.A710V|MYO1C_uc002fso.2_Missense_Mutation_p.A694V|MYO1C_uc010vqj.1_Missense_Mutation_p.A694V|MYO1C_uc010vqk.1_Missense_Mutation_p.A705V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	729					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACCTCCAGGGCATCCTCTGT	0.632		NaN											0	0	0	1	0	12	32				
ALOX15	246	broad.mit.edu	37	17	4535233	4535233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:4535233G>C	uc002fyh.2	-	13	1774	c.1760C>G	c.(1759-1761)TCT>TGT	p.S587C	ALOX15_uc010vsd.1_Missense_Mutation_p.S548C|ALOX15_uc010vse.1_Missense_Mutation_p.S609C	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	587	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CATCTGGAGAGAAGCCTGGTG	0.622		NaN											0	0	0	1	0	8	50				
NUP88	4927	broad.mit.edu	37	17	5289552	5289552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5289552C>T	uc002gbo.1	-	17	2226	c.2200G>A	c.(2200-2202)GAT>AAT	p.D734N	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.D750N	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	734					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						TTGCGGATATCATTGATTTGC	0.363		NaN											0	0	0	1	0	18	110				
DHX33	56919	broad.mit.edu	37	17	5347829	5347829	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5347829G>C	uc002gca.2	-	12	1822	c.1820C>G	c.(1819-1821)TCA>TGA	p.S607*	DHX33_uc002gbz.2_Nonsense_Mutation_p.S378*|DHX33_uc002gcb.2_Nonsense_Mutation_p.S434*|DHX33_uc010clf.2_Nonsense_Mutation_p.S383*	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	607						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GATTGGCATTGACATCTGTTT	0.597		NaN											0	0	0	1	0	7	27				
ZBTB4	57659	broad.mit.edu	37	17	7365511	7365511	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7365511G>T	uc002ghc.3	-	4	3040	c.2790C>A	c.(2788-2790)CTC>CTA	p.L930L	ZBTB4_uc002ghd.3_Silent_p.L930L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGCAAGGAGCTGGGGGC	0.627		NaN											1	0	3.73148e-12	1	4.19043e-12	30	128				
TNFSF12	8742	broad.mit.edu	37	17	7460637	7460637	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7460637C>A	uc002ghg.2	+	7	816	c.720C>A	c.(718-720)CTC>CTA	p.L240L	TNFSF12_uc002ghh.2_RNA|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_5'Flank|TNFSF13_uc002ghk.2_5'Flank|TNFSF13_uc002ghl.2_5'Flank|TNFSF13_uc010cmk.2_5'Flank|TNFSF13_uc010vua.1_5'Flank	NM_003809	NP_003800	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily,	240	Extracellular (Potential).				angiogenesis|apoptosis|cell differentiation|endothelial cell migration|immune response|induction of apoptosis|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|signal transduction	extracellular space|integral to plasma membrane|perinuclear region of cytoplasm	cytokine activity|tumor necrosis factor receptor binding				0		Prostate(122;0.157)				CCCCCTTCCTCACCTACTTCG	0.692		NaN											1	0	3.09899e-07	1	3.31189e-07	9	30				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7577127C>T	uc002gim.2	-	8	1005	c.811G>A	c.(811-813)GAG>AAG	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	271	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACGCACCTCAAAGCTGTTC	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	1	0	17	17		Valid		
ZNF624	57547	broad.mit.edu	37	17	16552976	16552976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:16552976C>G	uc010cpi.1	-	2	166	c.83G>C	c.(82-84)CGC>CCC	p.R28P		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTTACCAGGCGTCCAACTGA	0.468		NaN											0	0	0	1	0	4	28				
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:17942265A>C	uc002gse.1	-	1	216	c.63T>G	c.(61-63)GGT>GGG	p.G21G	C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Silent_p.G21G	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672		NaN											0	0	0	1	0	5	4				
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18025324G>C	uc010vxh.1	+	2	3548	c.3210G>C	c.(3208-3210)CAG>CAC	p.Q1070H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647		NaN											0	0	0	1	0	22	75				
FBXW10	10517	broad.mit.edu	37	17	18668067	18668067	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18668067G>T	uc002guk.2	+	8	1678	c.1446G>T	c.(1444-1446)CTG>CTT	p.L482L	FBXW10_uc002guj.2_Silent_p.L482L|FBXW10_uc002gul.2_Silent_p.L511L|FBXW10_uc010cqh.1_Silent_p.L482L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	482	WD 3.									ovary(1)	1						ACTGGGATCTGAAAAGTGGGG	0.483		NaN											1	0	2.23348e-06	1	2.36288e-06	15	40				
CYTSB	92521	broad.mit.edu	37	17	20130924	20130924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:20130924G>C	uc002gwq.2	+	5	2207	c.2062G>C	c.(2062-2064)GAG>CAG	p.E688Q	CYTSB_uc010cqx.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwr.2_Missense_Mutation_p.E688Q|CYTSB_uc002gws.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwv.2_Missense_Mutation_p.E607Q|CYTSB_uc010vzf.1_Missense_Mutation_p.E28Q|CYTSB_uc002gww.2_Missense_Mutation_p.E464Q|CYTSB_uc002gwt.2_Missense_Mutation_p.E607Q|CYTSB_uc002gwu.2_Missense_Mutation_p.E607Q	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	688	Potential.					nucleus					0						ACTCATCAGTGAGCTAGAAAG	0.254		NaN											0	0	0	1	0	11	41				
SLC13A2	9058	broad.mit.edu	37	17	26818799	26818799	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26818799C>T	uc002hbh.2	+	6	874	c.807C>T	c.(805-807)TTC>TTT	p.F269F	SLC13A2_uc010wal.1_Silent_p.F226F|SLC13A2_uc010wam.1_Silent_p.F225F|SLC13A2_uc010wan.1_Silent_p.F318F|SLC13A2_uc010wao.1_Silent_p.F226F|SLC13A2_uc002hbi.2_Silent_p.F198F	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	269						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTCAGCTTCGCCTTCCCCA	0.582		NaN											0	0	0	1	0	9	77				
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26890912G>C	uc002hbo.2	-	4	673	c.300C>G	c.(298-300)ATC>ATG	p.I100M	PIGS_uc002hbn.2_Missense_Mutation_p.I92M|PIGS_uc010wap.1_Missense_Mutation_p.I39M	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	100	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522		NaN											0	0	0	1	0	17	110				
KIAA0100	9703	broad.mit.edu	37	17	26951382	26951382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26951382C>T	uc002hbu.2	-	25	4720	c.4621G>A	c.(4621-4623)GAA>AAA	p.E1541K	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1541						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCTGTCTCTTCAATTAGCTTC	0.463		NaN											0	0	0	1	0	14	59				
TLCD1	116238	broad.mit.edu	37	17	27051561	27051561	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27051561C>A	uc002hco.2	-	4	826	c.711G>T	c.(709-711)AAG>AAT	p.K237N	TLCD1_uc010waw.1_Missense_Mutation_p.K190N	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	237						integral to membrane					0	Lung NSC(42;0.00431)					TGTGTTGCTTCTTGGGGACAT	0.522		NaN											1	0	3.90053e-15	1	4.43562e-15	30	202				
TLCD1	116238	broad.mit.edu	37	17	27052547	27052547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27052547C>G	uc002hco.2	-	2	344	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	TLCD1_uc010waw.1_Missense_Mutation_p.E30Q	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	77	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					CACGCCGTCTCAATCTCCACT	0.542		NaN											0	0	0	1	0	24	110				
PIPOX	51268	broad.mit.edu	37	17	27382234	27382234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27382234T>C	uc002hdr.1	+	6	1287	c.961T>C	c.(961-963)TAC>CAC	p.Y321H		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	321					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GAGCTGCATGTACACGGTAAG	0.567		NaN											0	0	0	1	0	30	133				
CORO6	84940	broad.mit.edu	37	17	27943318	27943318	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27943318G>A	uc002hel.2	-	8	1043	c.1041C>T	c.(1039-1041)ATC>ATT	p.I347I	CORO6_uc002hem.2_Silent_p.I113I|CORO6_uc002hen.2_Silent_p.I113I	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	347					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CAGTCATGATGATAGGTTCAC	0.572		NaN											0	0	0	1	0	3	17				
CCL13	6357	broad.mit.edu	37	17	32685093	32685093	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32685093G>C	uc002hic.2	+	3	315	c.240G>C	c.(238-240)AAG>AAC	p.K80N		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	80					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				CAAAGGAGAAGTGGGTCCAGA	0.493		NaN											0	0	0	1	0	19	33				
TMEM132E	124842	broad.mit.edu	37	17	32964869	32964869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32964869G>T	uc002hif.2	+	10	2901	c.2573G>T	c.(2572-2574)GGA>GTA	p.G858V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	858	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGGTGCAAGGAGAGCTGTCG	0.697		NaN											1	0	9.04072e-19	1	1.03463e-18	37	30				
UNC45B	146862	broad.mit.edu	37	17	33501356	33501356	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33501356C>G	uc002hja.2	+	14	2029	c.1932C>G	c.(1930-1932)ATC>ATG	p.I644M	UNC45B_uc002hjb.2_Missense_Mutation_p.I642M|UNC45B_uc002hjc.2_Missense_Mutation_p.I642M|UNC45B_uc010cto.2_Missense_Mutation_p.I563M	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	644					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				ATAGTGCCATCCTCACTGACC	0.597		NaN											0	0	0	1	0	12	82				
AP2B1	163	broad.mit.edu	37	17	33953812	33953812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33953812G>A	uc002hjr.2	+	7	1078	c.889G>A	c.(889-891)GAA>AAA	p.E297K	AP2B1_uc002hjq.2_Missense_Mutation_p.E297K|AP2B1_uc010wci.1_Missense_Mutation_p.E259K|AP2B1_uc002hjs.2_Missense_Mutation_p.E240K|AP2B1_uc002hjt.2_Missense_Mutation_p.E297K|AP2B1_uc010ctv.2_Missense_Mutation_p.E297K|AP2B1_uc010wcj.1_Missense_Mutation_p.E34K	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	297					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGGGAGCCAGAAGTGCAGTA	0.408		NaN											0	0	0	1	0	38	226				
CCL16	6360	broad.mit.edu	37	17	34308454	34308454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34308454C>T	uc002hkl.2	-	1	70	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	1					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGAGACCTTCATCCTCTCAG	0.547		NaN											0	0	0	1	0	3	13				
GGNBP2	79893	broad.mit.edu	37	17	34923593	34923593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34923593G>C	uc002hnb.2	+	6	868	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	GGNBP2_uc002hna.2_Missense_Mutation_p.E207Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	207					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAACACTAGAAACATATCT	0.418		NaN											0	0	0	1	0	16	61				
LHX1	3975	broad.mit.edu	37	17	35298106	35298106	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35298106C>T	uc002hnh.1	+	3	1593	c.597C>T	c.(595-597)TTC>TTT	p.F199F	LHX1_uc010cux.1_Silent_p.F107F	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	199	Homeobox.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				AGGCCGCCTTCGCTGCTACAC	0.677		NaN											0	0	0	1	0	7	17				
ACACA	31	broad.mit.edu	37	17	35634815	35634815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35634815C>T	uc002hnm.2	-	6	774	c.583G>A	c.(583-585)GAT>AAT	p.D195N	ACACA_uc002hnk.2_Missense_Mutation_p.D117N|ACACA_uc002hnl.2_Missense_Mutation_p.D137N|ACACA_uc002hnn.2_Missense_Mutation_p.D195N|ACACA_uc002hno.2_Missense_Mutation_p.D232N|ACACA_uc010cuz.2_Missense_Mutation_p.D195N|ACACA_uc002hnq.2_Missense_Mutation_p.D117N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	195	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTAGCAATATCAAGAATTAAT	0.383		NaN											0	0	0	1	0	7	48				
TADA2A	6871	broad.mit.edu	37	17	35804846	35804846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35804846G>A	uc002hnt.2	+	8	737	c.580G>A	c.(580-582)GAA>AAA	p.E194K	TADA2A_uc002hnu.1_Missense_Mutation_p.E194K|TADA2A_uc002hnv.2_Missense_Mutation_p.E194K|TADA2A_uc010wdd.1_Missense_Mutation_p.E194K|TADA2A_uc002hnw.2_Missense_Mutation_p.E93K|TADA2A_uc010cvb.2_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	194					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TGATTTTGTTGAAGATGACTC	0.269		NaN											0	0	0	1	0	38	218				
GPR179	440435	broad.mit.edu	37	17	36483085	36483085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:36483085G>A	uc002hpz.2	-	11	6388	c.6367C>T	c.(6367-6369)CCC>TCC	p.P2123S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2123	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCAGAGGGAGCCTCTACC	0.572		NaN											0	0	0	1	0	21	108				
CACNB1	782	broad.mit.edu	37	17	37347815	37347815	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:37347815G>C	uc002hrm.1	-	3	356	c.203C>G	c.(202-204)TCA>TGA	p.S68*	CACNB1_uc002hrl.1_Translation_Start_Site|CACNB1_uc002hrn.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hro.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hrp.1_Nonsense_Mutation_p.S68*|CACNB1_uc010web.1_Nonsense_Mutation_p.S21*	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	68					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCAGAGTCTGATGGACGGCT	0.587		NaN											0	0	0	1	0	23	38				
TTC25	83538	broad.mit.edu	37	17	40117264	40117264	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40117264A>G	uc002hyj.3	+	11	1871	c.1782A>G	c.(1780-1782)GGA>GGG	p.G594G	TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	594						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAAGATCAGGAGAAACAGGCA	0.498		NaN											0	0	0	1	0	7	24				
TUBG2	27175	broad.mit.edu	37	17	40818472	40818472	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40818472C>G	uc010wgr.1	+	10	1384	c.1128C>G	c.(1126-1128)CTC>CTG	p.L376L	TUBG2_uc002iaq.2_Silent_p.L218L|TUBG2_uc002iar.2_Silent_p.L223L|TUBG2_uc002ias.2_Silent_p.L218L|TUBG2_uc002iap.2_Silent_p.L223L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	376					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCAGCGGGCTCATGATGGCCA	0.587		NaN											0	0	0	1	0	14	121				
NBR1	4077	broad.mit.edu	37	17	41341649	41341649	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:41341649G>A	uc010czd.2	+	8	665	c.525G>A	c.(523-525)CAG>CAA	p.Q175Q	NBR1_uc010diz.2_Silent_p.Q175Q|NBR1_uc010whu.1_Silent_p.Q175Q|NBR1_uc010whv.1_Silent_p.Q175Q|NBR1_uc010whw.1_Silent_p.Q154Q|NBR1_uc010whx.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	175					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTTGAACAGAAATTACATG	0.393		NaN											0	0	0	1	0	19	116				
C17orf53	78995	broad.mit.edu	37	17	42239247	42239247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42239247G>C	uc002ifi.1	+	10	2076	c.1891G>C	c.(1891-1893)GAT>CAT	p.D631H	C17orf53_uc010czq.1_Missense_Mutation_p.D630H|C17orf53_uc002ifj.1_Missense_Mutation_p.W518C|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	631											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGATGACCTGGATGGACTCCT	0.547		NaN											0	0	0	1	0	18	98				
GFAP	2670	broad.mit.edu	37	17	42992744	42992744	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42992744G>C	uc002ihq.2	-	1	171	c.111C>G	c.(109-111)CTC>CTG	p.L37L	GFAP_uc002ihr.2_Silent_p.L37L|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	37	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GAGCCAGGGAGAGGCGGGTGC	0.692		NaN											0	0	0	1	0	11	21				
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43345029C>T	uc002iiw.1	-	13	2179	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	690					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						AAAGCTCTCTCGGCTGGGCAT	0.607		NaN											0	0	0	1	0	13	140				
MAP3K14	9020	broad.mit.edu	37	17	43348526	43348526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43348526C>T	uc002iiw.1	-	11	1829	c.1720G>A	c.(1720-1722)GAC>AAC	p.D574N	MAP3K14_uc002iiu.1_Missense_Mutation_p.D104N|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.D158N	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	574	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						ACCTTGGCGTCGCAGCTCCTG	0.597		NaN									OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	6	37				
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46030598C>T	uc002imp.2	-	2	120	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_024320	NP_077296	Q9BU68	PR15L_HUMAN	ATPase family, AAA domain containing 4	1										ovary(1)	1						TTTCAGTCGTCATGGCGCTCC	0.547		NaN											0	0	0	1	0	61	79				
ATP5G1	516	broad.mit.edu	37	17	46973041	46973041	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46973041C>G	uc002iog.2	+	5	455	c.321C>G	c.(319-321)CTC>CTG	p.L107L	ATP5G1_uc002ioh.2_Silent_p.L107L	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	107					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0						AGCAGCAGCTCTTCTCCTATG	0.577		NaN											0	0	0	1	0	111	131				
NGFR	4804	broad.mit.edu	37	17	47583714	47583714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:47583714G>C	uc002ioz.3	+	3	387	c.262G>C	c.(262-264)GAG>CAG	p.E88Q		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	88	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCGTGCACCGAGTGCGTGGG	0.672		NaN											0	0	0	1	0	7	46				
ACSF2	80221	broad.mit.edu	37	17	48540834	48540834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48540834C>G	uc002iqu.2	+	8	1071	c.967C>G	c.(967-969)CTG>GTG	p.L323V	ACSF2_uc010wml.1_Missense_Mutation_p.L280V|ACSF2_uc010wmm.1_Missense_Mutation_p.L348V|ACSF2_uc010wmn.1_Missense_Mutation_p.L310V|ACSF2_uc010wmo.1_Missense_Mutation_p.L163V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	323					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AATGATGTGTCTGATGTACGG	0.587		NaN											0	0	0	1	0	30	40				
MYCBPAP	84073	broad.mit.edu	37	17	48601143	48601143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48601143G>A	uc010wmr.1	+	12	1924	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	551					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAAAGTACTGGAGGTAAGGGA	0.527		NaN											0	0	0	1	0	8	36				
EPN3	55040	broad.mit.edu	37	17	48619216	48619216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48619216C>T	uc002ira.3	+	10	2032	c.1597C>T	c.(1597-1599)CCG>TCG	p.P533S	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P561S|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P506S	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	533	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCTCAGCGCTCCGTCCCCCAC	0.692		NaN											0	0	0	1	0	8	34				
ABCC3	8714	broad.mit.edu	37	17	48750880	48750880	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48750880C>T	uc002isl.2	+	19	2540	c.2460C>T	c.(2458-2460)TTC>TTT	p.F820F		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	820	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGACAGACTTCATCATTGTGC	0.607		NaN											0	0	0	1	0	8	79				
MBTD1	54799	broad.mit.edu	37	17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:49281254C>G	uc002itr.3	-	8	981	c.637G>C	c.(637-639)GAA>CAA	p.E213Q	MBTD1_uc002itp.3_Missense_Mutation_p.E49Q|MBTD1_uc002itq.3_Missense_Mutation_p.E213Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368		NaN											0	0	0	1	0	106	140				
STXBP4	252983	broad.mit.edu	37	17	53218719	53218719	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:53218719A>G	uc002iuf.1	+	17	1745	c.1538A>G	c.(1537-1539)TAC>TGC	p.Y513C	STXBP4_uc010dcd.1_Missense_Mutation_p.Y491C	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	513	WW.					cytoplasm	calcium ion binding			ovary(1)	1						GGAATCAAGTACTTCATCAAG	0.358		NaN											0	0	0	1	0	12	70				
EPX	8288	broad.mit.edu	37	17	56270423	56270423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:56270423C>T	uc002ivq.2	+	2	187	c.101C>T	c.(100-102)TCG>TTG	p.S34L		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	34					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						GTGGAGACCTCGGTCCTGCGA	0.597		NaN											0	0	0	1	0	66	148				
SKA2	348235	broad.mit.edu	37	17	57189697	57189697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:57189697G>T	uc002ixd.2	-	4	583	c.307C>A	c.(307-309)CTG>ATG	p.L103M	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Missense_Mutation_p.H75Q|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	103					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						TCTTTAGTCAGTGGTGACAGC	0.323		NaN											1	0	1.42536e-11	1	1.59215e-11	27	48				
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:58288742G>C	uc002iyo.1	-	20	2599	c.2313C>G	c.(2311-2313)CTC>CTG	p.L771L	USP32_uc002iyn.1_Silent_p.L441L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408		NaN											0	0	0	1	0	20	313				
TBX2	6909	broad.mit.edu	37	17	59479190	59479190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59479190G>A	uc010wox.1	+	2	822	c.541G>A	c.(541-543)GAG>AAG	p.E181K	TBX2_uc002ize.2_Missense_Mutation_p.E171K|TBX2_uc002izg.2_Missense_Mutation_p.E27K	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	181	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						GGCCGACCCTGAGATGCCCAA	0.577		NaN											0	0	0	1	0	9	130				
BRIP1	83990	broad.mit.edu	37	17	59878667	59878667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59878667C>T	uc002izk.1	-	8	1228	c.1087G>A	c.(1087-1089)GAC>AAC	p.D363N		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	363	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						AATATGATGTCAGCATCTTGT	0.408		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	41	360				
STRADA	92335	broad.mit.edu	37	17	61787958	61787958	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61787958G>A	uc002jbm.2	-	8	633	c.474C>T	c.(472-474)CTC>CTT	p.L158L	STRADA_uc002jbn.2_Silent_p.L100L|STRADA_uc002jbo.2_Silent_p.L121L|STRADA_uc002jbp.2_Silent_p.L121L|STRADA_uc002jbq.2_Silent_p.L100L|STRADA_uc010wpq.1_Silent_p.L114L|STRADA_uc010wpr.1_Silent_p.L129L|STRADA_uc010ddw.2_Silent_p.L129L|STRADA_uc002jbr.2_Silent_p.L100L	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	158	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						GTGTACAGATGAGATCTTTTG	0.493		NaN											0	0	0	1	0	29	128				
DDX42	11325	broad.mit.edu	37	17	61869914	61869914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61869914G>C	uc002jbu.2	+	4	621	c.364G>C	c.(364-366)GAA>CAA	p.E122Q	DDX42_uc002jbv.2_Missense_Mutation_p.E122Q|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	122	Potential.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						ATTCATGGCTGAAGTGGAGGC	0.373		NaN											0	0	0	1	0	30	262				
ARSG	22901	broad.mit.edu	37	17	66352862	66352862	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:66352862C>A	uc002jhc.2	+	6	1417	c.621C>A	c.(619-621)CTC>CTA	p.L207L	ARSG_uc002jhb.1_Silent_p.L43L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	207					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAACCTCAACATTGTGG	0.502		NaN											1	0	2.2171e-23	1	2.55585e-23	33	46				
ABCA9	10350	broad.mit.edu	37	17	67024685	67024685	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:67024685G>C	uc002jhu.2	-	12	1749	c.1606C>G	c.(1606-1608)CCA>GCA	p.P536A	ABCA9_uc010dez.2_Missense_Mutation_p.P536A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	536	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CCTGATGTTGGAACTGACAAC	0.363		NaN											0	0	0	1	0	26	82				
KCNJ2	3759	broad.mit.edu	37	17	68171223	68171223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:68171223G>T	uc010dfg.2	+	2	444	c.43G>T	c.(43-45)GAA>TAA	p.E15*	KCNJ2_uc002jir.2_Nonsense_Mutation_p.E15*	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	15	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CGTCTCTTCAGAAGAAGACGG	0.517		NaN											1	0	1.52009e-12	1	1.71316e-12	16	64				
RAB37	326624	broad.mit.edu	37	17	72739323	72739323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:72739323G>A	uc002jlk.2	+	4	358	c.302G>A	c.(301-303)AGA>AAA	p.R101K	RAB37_uc002jlc.2_Missense_Mutation_p.R94K|RAB37_uc010dfu.2_Missense_Mutation_p.R94K|RAB37_uc002jld.2_Missense_Mutation_p.R94K|RAB37_uc010wrb.1_Missense_Mutation_p.R69K|RAB37_uc010wrc.1_Missense_Mutation_p.R106K|RAB37_uc010wrd.1_Missense_Mutation_p.R69K|RAB37_uc010wre.1_Missense_Mutation_p.R64K|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	101					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						GCTTATTACAGAGATGCTCAG	0.602		NaN											0	0	0	1	0	71	116				
SUMO2	6613	broad.mit.edu	37	17	73164440	73164440	+	Silent	SNP	G	G	C	rs55895120		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73164440G>C	uc002jne.2	-	4	451	c.282C>G	c.(280-282)GTC>GTG	p.V94V	SUMO2_uc002jnf.2_Silent_p.V70V	NM_006937	NP_008868	P61956	SUMO2_HUMAN	SMT3 suppressor of mif two 3 homolog 2 isoform a	94	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding				0	all_lung(278;0.14)|Lung NSC(278;0.168)					CTTTTCAGTAGACACCTCCCG	0.378		NaN											0	0	0	1	0	7	27				
NUP85	79902	broad.mit.edu	37	17	73204648	73204648	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73204648G>C	uc002jng.1	+	2	320	c.60G>C	c.(58-60)AAG>AAC	p.K20N	NUP85_uc010dgd.1_Missense_Mutation_p.K20N|NUP85_uc010wrv.1_Intron	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	20					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTCCAAGAAGAACCAAATGT	0.338		NaN											0	0	0	1	0	32	271				
SLC25A19	60386	broad.mit.edu	37	17	73282415	73282415	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73282415C>A	uc002jns.3	-	2	1168	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC25A19_uc010dge.2_Missense_Mutation_p.Q86H|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q86H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	86	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGAGAGAATCTGAGCTGGGA	0.592		NaN											1	0	1.96895e-08	1	2.13684e-08	24	153				
CCDC40	55036	broad.mit.edu	37	17	78059852	78059852	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:78059852G>A	uc010dht.2	+	14	2313	c.2286G>A	c.(2284-2286)CTG>CTA	p.L762L	CCDC40_uc002jxm.3_Silent_p.L545L|CCDC40_uc002jxn.3_Silent_p.L158L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	762	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAAGCTGATCGACGAGC	0.522		NaN											0	0	0	1	0	18	83				
SLC38A10	124565	broad.mit.edu	37	17	79220394	79220394	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:79220394C>T	uc002jzz.1	-	16	2697	c.2322G>A	c.(2320-2322)GAG>GAA	p.E774E	SLC38A10_uc002jzy.1_Silent_p.E692E	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	774					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGGCAGATTCTCCACCGTCT	0.652		NaN											0	0	0	1	0	14	70				
FASN	2194	broad.mit.edu	37	17	80040026	80040026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80040026C>T	uc002kdu.2	-	36	6139	c.6022G>A	c.(6022-6024)GAG>AAG	p.E2008K	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2008	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGCACGCCTCTCGGGTCACC	0.627		NaN											0	0	0	1	0	9	42				
UTS2R	2837	broad.mit.edu	37	17	80332454	80332454	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80332454C>A	uc010wvl.1	+	1	254	c.254C>A	c.(253-255)TCC>TAC	p.S85Y		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCGGTGGCCTCCATGTACGTC	0.652		NaN											1	0	0.150653	1	0.151374	4	11				
HEXDC	284004	broad.mit.edu	37	17	80377757	80377757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80377757G>A	uc002kew.2	+	1	133	c.82G>A	c.(82-84)GAG>AAG	p.E28K	C17orf101_uc002ket.1_5'Flank|C17orf101_uc002keu.1_5'Flank|C17orf101_uc010dip.1_5'Flank|HEXDC_uc002kev.3_Missense_Mutation_p.E28K|HEXDC_uc010diq.2_Missense_Mutation_p.E28K			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	28					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTACCTCTCAGAGGTAAGGAC	0.418		NaN											0	0	0	1	0	16	27				
HEXDC	284004	broad.mit.edu	37	17	80391557	80391557	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80391557C>T	uc002kew.2	+	4	357	c.306C>T	c.(304-306)TTC>TTT	p.F102F	HEXDC_uc002kev.3_Silent_p.F102F|HEXDC_uc010diq.2_Silent_p.F102F|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	102					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACACGGCCTTCGCCCACCTGC	0.652		NaN											0	0	0	1	0	17	56				
LAMA1	284217	broad.mit.edu	37	18	7010382	7010382	+	Silent	SNP	G	G	C	rs139372717		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7010382G>C	uc002knm.2	-	26	3784	c.3690C>G	c.(3688-3690)CTC>CTG	p.L1230L	LAMA1_uc010wzj.1_Silent_p.L706L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1230	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATAGGCCATGAGCTATCAAA	0.408		NaN											0	0	0	1	0	29	80				
LAMA1	284217	broad.mit.edu	37	18	7080413	7080413	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7080413G>A	uc002knm.2	-	2	199	c.105C>T	c.(103-105)ATC>ATT	p.I35I	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	35	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTGGTGCTGATGTGAGCAT	0.517		NaN											0	0	0	1	0	23	67				
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:13092445C>T	uc010xac.1	+	34	6253	c.6173C>T	c.(6172-6174)TCA>TTA	p.S2058L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2058										ovary(4)|pancreas(1)	5						ATTATACTTTCAGTAATTGGA	0.333		NaN											0	0	0	1	0	16	85				
DCC	1630	broad.mit.edu	37	18	50832018	50832018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:50832018G>A	uc002lfe.1	+	13	2569	c.1982G>A	c.(1981-1983)CGA>CAA	p.R661Q	DCC_uc010xdr.1_Missense_Mutation_p.R509Q|DCC_uc010dpf.1_Missense_Mutation_p.R316Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	661	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R661*(1)		skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATAAAATTCGACACAGAAAG	0.423		NaN											0	0	0	1	0	20	55				
ATP8B1	5205	broad.mit.edu	37	18	55342102	55342102	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:55342102C>G	uc002lgw.2	-	15	1783	c.1783G>C	c.(1783-1785)GAC>CAC	p.D595H	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	595	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CTGTTGAAGTCCAAAATGGCA	0.473		NaN							Byler_disease				0	0	0	1	0	30	44				
SERPINB13	5275	broad.mit.edu	37	18	61264380	61264380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:61264380C>T	uc002ljc.2	+	8	1127	c.959C>T	c.(958-960)TCG>TTG	p.S320L	SERPINB13_uc002ljd.2_Missense_Mutation_p.S184L|SERPINB13_uc010xep.1_Missense_Mutation_p.S329L|SERPINB13_uc010xeq.1_Missense_Mutation_p.S141L|SERPINB13_uc010xer.1_Missense_Mutation_p.S141L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	320					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						TCGGGAATGTCGTCAGGCTCC	0.592		NaN											0	0	0	1	0	16	93				
CDH19	28513	broad.mit.edu	37	18	64235752	64235752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:64235752C>G	uc002lkc.1	-	3	529	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E131Q|CDH19_uc002lkd.2_Missense_Mutation_p.E131Q	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	131	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				AACTCAGACTCAGGTTCCACA	0.438		NaN											0	0	0	1	0	26	104				
NETO1	81832	broad.mit.edu	37	18	70417770	70417770	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70417770G>C	uc002lkw.2	-	9	1352	c.1068C>G	c.(1066-1068)CTC>CTG	p.L356L	NETO1_uc002lkx.1_Silent_p.L355L|NETO1_uc002lky.1_Silent_p.L356L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	356	Helical; (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGATGATAATGAGGATGATCA	0.463		NaN											0	0	0	1	0	18	80				
NETO1	81832	broad.mit.edu	37	18	70451007	70451007	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70451007G>A	uc002lkw.2	-	7	1058	c.774C>T	c.(772-774)GTC>GTT	p.V258V	NETO1_uc002lkx.1_Silent_p.V257V|NETO1_uc002lky.1_Silent_p.V258V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	258	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCGTAGCATGACATCATTAG	0.473		NaN											0	0	0	1	0	154	56				
ZNF516	9658	broad.mit.edu	37	18	74091004	74091004	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:74091004G>A	uc010dqx.1	-	3	3301	c.3066C>T	c.(3064-3066)GGC>GGT	p.G1022G	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731		NaN											0	0	0	1	0	7	23				
POLRMT	5442	broad.mit.edu	37	19	630072	630072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:630072C>G	uc002lpf.1	-	3	346	c.290G>C	c.(289-291)GGA>GCA	p.G97A		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	97					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACCATCTCCACTGCCACA	0.647		NaN											0	0	0	1	0	22	54				
APC2	10297	broad.mit.edu	37	19	1466922	1466922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1466922C>G	uc002lsr.1	+	15	3830	c.3622C>G	c.(3622-3624)CCC>GCC	p.P1208A	APC2_uc002lss.1_Missense_Mutation_p.P790A|APC2_uc002lst.1_Missense_Mutation_p.P1208A|APC2_uc002lsu.1_Missense_Mutation_p.P1207A|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1208	Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCATGCCTCCCAGCCGGAG	0.697		NaN											0	0	0	1	0	3	6				
CSNK1G2	1455	broad.mit.edu	37	19	1978737	1978737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1978737C>T	uc002lul.3	+	6	958	c.435C>T	c.(433-435)ATC>ATT	p.I145I	CSNK1G2_uc010dsu.2_Silent_p.I97I	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	145	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGATGATCGCCATCCAGC	0.388		NaN											0	0	0	1	0	3	4				
DOT1L	84444	broad.mit.edu	37	19	2226780	2226780	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2226780C>G	uc002lvb.3	+	27	4296	c.4260C>G	c.(4258-4260)CTC>CTG	p.L1420L	DOT1L_uc002lvc.1_Silent_p.L714L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1420						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCGACCTCAAGAATGGCC	0.741		NaN											0	0	0	1	0	4	10				
THOP1	7064	broad.mit.edu	37	19	2794783	2794783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2794783T>C	uc002lwj.2	+	3	406	c.251T>C	c.(250-252)TTC>TCC	p.F84S	THOP1_uc010xgz.1_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	84					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTGACTTCCCCCAGCAT	0.577		NaN											0	0	0	1	0	73	141				
CELF5	60680	broad.mit.edu	37	19	3284910	3284910	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3284910G>C	uc002lxm.2	+	9	1087	c.1050G>C	c.(1048-1050)CCG>CCC	p.P350P	CELF5_uc002lxl.1_Silent_p.P350P|CELF5_uc010dtj.1_Silent_p.P325P|CELF5_uc010xhg.1_Silent_p.P236P|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	350					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						CTCAGAGCCCGACTGTGGCCG	0.502		NaN											0	0	0	1	0	5	12				
ZFR2	23217	broad.mit.edu	37	19	3816809	3816809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3816809C>T	uc002lyw.2	-	13	1978	c.1966G>A	c.(1966-1968)GTC>ATC	p.V656I		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	656						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCGCATGACGCCTTTCAGG	0.388		NaN											0	0	0	1	0	3	5				
EEF2	1938	broad.mit.edu	37	19	3979971	3979971	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3979971C>A	uc002lze.2	-	10	1523	c.1440G>T	c.(1438-1440)GTG>GTT	p.V480V		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	480						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCTTCACCAGGAACT	0.592		NaN											1	0	0.00198382	1	0.0020207	7	29				
MLLT1	4298	broad.mit.edu	37	19	6230705	6230705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:6230705C>T	uc002mek.2	-	4	460	c.296G>A	c.(295-297)TGC>TAC	p.C99Y		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	99	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GTAGGTGAAGCAGACCTTCCT	0.597		NaN	T	MLL	AL								0	0	0	1	0	30	131				
ZNF557	79230	broad.mit.edu	37	19	7083276	7083276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7083276G>T	uc002mgb.2	+	8	1278	c.793G>T	c.(793-795)GAG>TAG	p.E265*	ZNF557_uc002mga.2_Nonsense_Mutation_p.E272*|ZNF557_uc002mgc.2_Nonsense_Mutation_p.E272*	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	265	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		GTGTTTTCGTGAGTTCCGCAC	0.468		NaN											1	0	1.01871e-10	1	1.1319e-10	20	80				
CLEC4G	339390	broad.mit.edu	37	19	7794775	7794775	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7794775C>G	uc002mhp.3	-	8	744	c.675G>C	c.(673-675)CTG>CTC	p.L225L		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	225	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0						GCACAGCCCTCAGGCCCAGCC	0.647		NaN											0	0	0	1	0	9	53				
MAP2K7	5609	broad.mit.edu	37	19	7968896	7968896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7968896G>A	uc002mit.2	+	1	132	c.67G>A	c.(67-69)GAG>AAG	p.E23K	MAP2K7_uc002mis.1_Missense_Mutation_p.E23K|MAP2K7_uc002miv.2_Missense_Mutation_p.E23K|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.E23K|MAP2K7_uc010dvv.2_5'UTR	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	23	Potential.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGAGAACCGGGAGGCCCGGCG	0.388		NaN											0	0	0	1	0	6	7				
ICAM1	3383	broad.mit.edu	37	19	10385665	10385665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:10385665G>C	uc002mnq.2	+	2	611	c.292G>C	c.(292-294)GAT>CAT	p.D98H	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	98	Extracellular (Potential).|Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AAACTGCCCTGATGGGCAGTC	0.542		NaN											0	0	0	1	0	29	128				
C19orf52	90580	broad.mit.edu	37	19	11040315	11040315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040315G>T	uc002mqd.1	+	2	795	c.720G>T	c.(718-720)GAG>GAT	p.E240D	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	240											0						TGCAGAAGGAGAAGAAGGACA	0.632		NaN											1	0	3.27435e-08	1	3.53832e-08	14	17				
C19orf52	90580	broad.mit.edu	37	19	11040364	11040364	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040364G>C	uc002mqd.1	+	2	844	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	257											0						GGTGCAGGCGGAGGCCCCGAG	0.637		NaN											0	0	0	1	0	4	16				
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11943309C>T	uc002msp.1	+	4	1474	c.1318C>T	c.(1318-1320)CAA>TAA	p.Q440*		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATAACCTTCAAAGTCATGA	0.398		NaN											0	0	0	1	0	12	77				
ASF1B	55723	broad.mit.edu	37	19	14232376	14232376	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232376C>T	uc002mye.2	-	3	542	c.370G>A	c.(370-372)GAG>AAG	p.E124K		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	124	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						GGCGGGTTCTCACGCAGCTCA	0.557		NaN											0	0	0	1	0	14	81				
ASF1B	55723	broad.mit.edu	37	19	14232407	14232407	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232407G>C	uc002mye.2	-	3	511	c.339C>G	c.(337-339)GTC>GTG	p.V113V		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	113	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						ACTCGTTGTTGACGTAGTAGC	0.577		NaN											0	0	0	1	0	12	68				
ASF1B	55723	broad.mit.edu	37	19	14232458	14232458	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232458G>A	uc002mye.2	-	3	460	c.288C>T	c.(286-288)CTC>CTT	p.L96L		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	96	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						TGCAGGTGATGAGGACCACAG	0.592		NaN											0	0	0	1	0	9	44				
EMR2	30817	broad.mit.edu	37	19	14876511	14876511	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14876511C>A	uc002mzp.1	-	8	1196	c.740G>T	c.(739-741)AGA>ATA	p.R247I	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.R247I|EMR2_uc002mzo.1_Missense_Mutation_p.R247I|EMR2_uc002mzq.1_Missense_Mutation_p.R198I|EMR2_uc002mzr.1_Missense_Mutation_p.R198I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Missense_Mutation_p.R154I|EMR2_uc002mzu.1_Missense_Mutation_p.R154I|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	247	EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GATTCCGTGTCTGGGCTTCCA	0.607		NaN											1	0	9.16793e-09	1	9.97547e-09	10	66				
OR7C2	26658	broad.mit.edu	37	19	15053121	15053121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15053121C>T	uc010xoc.1	+	1	821	c.821C>T	c.(820-822)TCG>TTG	p.S274L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Ovarian(108;0.203)					CTGGCAGCCTCGGTGATGTAC	0.557		NaN											0	0	0	1	0	27	95				
EPHX3	79852	broad.mit.edu	37	19	15342142	15342142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15342142C>T	uc002nap.2	-	3	604	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	EPHX3_uc002naq.2_Missense_Mutation_p.R132Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	132						extracellular region	hydrolase activity				0						GCCATAGCCTCGCAAGTCCAC	0.617		NaN											0	0	0	1	0	11	34				
EPS15L1	58513	broad.mit.edu	37	19	16495955	16495955	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16495955G>A	uc002ndz.1	-	21	2238	c.2232C>T	c.(2230-2232)TTC>TTT	p.F744F	EPS15L1_uc002ndx.2_Silent_p.F744F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F634F|EPS15L1_uc010xpf.1_Silent_p.F647F|EPS15L1_uc002nea.1_Silent_p.F744F|EPS15L1_uc010eah.1_Silent_p.F746F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	744	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						ACATCTGGCTGAAGTCGGCAA	0.542		NaN											0	0	0	1	0	76	92				
EPS15L1	58513	broad.mit.edu	37	19	16528407	16528407	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16528407C>T	uc002ndz.1	-	12	1155	c.1149G>A	c.(1147-1149)GTG>GTA	p.V383V	EPS15L1_uc002ndx.2_Silent_p.V383V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.V273V|EPS15L1_uc010xpf.1_Silent_p.V286V|EPS15L1_uc002nea.1_Silent_p.V383V|EPS15L1_uc010eah.1_Silent_p.V383V|EPS15L1_uc002neb.1_Silent_p.V229V|EPS15L1_uc002nec.1_Silent_p.V383V	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	383					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CAAGCTCCTTCACGCCAGTAA	0.502		NaN									OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	5	40				
CHERP	10523	broad.mit.edu	37	19	16653184	16653184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16653184C>G	uc002nei.1	-	1	80	c.6G>C	c.(4-6)GAG>GAC	p.E2D	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	2					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GCAGCGGCATCTCCATGGCTC	0.711		NaN											0	0	0	1	0	3	12				
FAM125A	93343	broad.mit.edu	37	19	17531000	17531000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17531000C>T	uc002ngo.1	+	1	89	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM125A_uc002ngn.1_Missense_Mutation_p.S19L|FAM125A_uc002ngp.1_5'Flank|FAM125A_uc002ngq.1_5'Flank	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	family with sequence similarity 125, member A	19	MABP.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding				0						GCCTGGTCGTCGGCCTCTGCA	0.766		NaN											0	0	0	1	0	3	8				
FCHO1	23149	broad.mit.edu	37	19	17895552	17895552	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17895552C>G	uc010ebb.2	+	25	2434	c.2245C>G	c.(2245-2247)CAG>GAG	p.Q749E	FCHO1_uc002nhg.3_Missense_Mutation_p.Q749E|FCHO1_uc002nhh.2_Missense_Mutation_p.Q749E|FCHO1_uc010xpw.1_Missense_Mutation_p.Q699E|FCHO1_uc002nhi.2_Missense_Mutation_p.Q205E|FCHO1_uc002nhj.2_Missense_Mutation_p.Q93E	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	749										breast(1)	1						CCCGGGTCCCCAGTCTGTGCC	0.617		NaN									OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	72				
ZNF536	9745	broad.mit.edu	37	19	31039181	31039181	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31039181G>A	uc002nsu.1	+	4	2793	c.2655G>A	c.(2653-2655)CTG>CTA	p.L885L	ZNF536_uc010edd.1_Silent_p.L885L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CAGATGCTCTGAAAGGCACTG	0.552		NaN											0	0	0	1	0	34	144				
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768677	+	Silent	SNP	C	C	T	rs151270303		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31768677C>T	uc002nsy.3	-	2	2087	c.2022G>A	c.(2020-2022)CCG>CCA	p.P674P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	674					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657		NaN											0	0	0	1	0	12	65				
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912527C>T	uc002nvj.2	+	6	934	c.901C>T	c.(901-903)CAG>TAG	p.Q301*		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453		NaN											0	0	0	1	0	54	142				
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912556C>T	uc002nvj.2	+	6	963	c.930C>T	c.(928-930)CTC>CTT	p.L310L		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408		NaN											0	0	0	1	0	50	137				
GAPDHS	26330	broad.mit.edu	37	19	36024442	36024442	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36024442G>A	uc002oaf.1	+	1	129	c.13G>A	c.(13-15)GAC>AAC	p.D5N		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	5					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTCGAAGCGCGACATCGTCCT	0.627		NaN											0	0	0	1	0	20	59				
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36365501C>T	uc002oce.2	+	9	1290	c.1152C>T	c.(1150-1152)ATC>ATT	p.I384I	APLP1_uc010xsz.1_Silent_p.I345I|APLP1_uc002ocf.2_Silent_p.I384I|APLP1_uc002ocg.2_Silent_p.I287I|APLP1_uc010xta.1_Silent_p.I378I	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	384	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGCCCTTATCAACGACCAGC	0.662		NaN											0	0	0	1	0	22	99				
ZNF781	163115	broad.mit.edu	37	19	38160085	38160085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38160085G>A	uc002ogy.2	-	4	1707	c.965C>T	c.(964-966)TCA>TTA	p.S322L	ZNF781_uc002ogz.2_Missense_Mutation_p.S317L	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTATGCTTGAAGGCCTTCT	0.378		NaN											0	0	0	1	0	64	115				
DPF1	8193	broad.mit.edu	37	19	38713255	38713255	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38713255G>A	uc002ohl.2	-	2	231	c.204C>T	c.(202-204)CTC>CTT	p.L68L	DPF1_uc002ohm.2_Silent_p.L68L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Silent_p.L42L|DPF1_uc010xtv.1_Silent_p.L42L|DPF1_uc010xtw.1_Silent_p.L42L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	68					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCGAGTCGAGGAAGGGCA	0.647		NaN											0	0	0	1	0	4	9				
SUPT5H	6829	broad.mit.edu	37	19	39963713	39963713	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963713C>A	uc002olo.3	+	23	2396	c.2217C>A	c.(2215-2217)ACC>ACA	p.T739T	SUPT5H_uc002olp.3_Silent_p.T739T|SUPT5H_uc002olq.3_Silent_p.T735T|SUPT5H_uc002oln.3_Silent_p.T739T|SUPT5H_uc002olr.3_Silent_p.T739T|SUPT5H_uc002ols.1_Silent_p.T362T|SUPT5H_uc010egp.1_Silent_p.T105T	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	739					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCACTCCACCTGCCAGACCA	0.667		NaN											1	0	0.000673444	1	0.000690993	10	57				
SUPT5H	6829	broad.mit.edu	37	19	39963872	39963872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963872C>A	uc002olo.3	+	24	2467	c.2288C>A	c.(2287-2289)TCG>TAG	p.S763*	SUPT5H_uc002olp.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.S759*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.S386*|SUPT5H_uc010egp.1_Silent_p.L128L	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	763	CTR1-2.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCATGACCTCGACCTATGGG	0.652		NaN											1	0	5.01169e-05	1	5.22743e-05	16	92				
SELV	348303	broad.mit.edu	37	19	40009746	40009746	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40009746G>A	uc010xvc.1	+	6	1099	c.999G>A	c.(997-999)CAG>CAA	p.Q333Q		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	333					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGCTGCAGAAAATTGTGA	0.597		NaN											0	0	0	1	0	10	61				
PLD3	23646	broad.mit.edu	37	19	40872415	40872415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40872415G>T	uc002onm.3	+	3	423	c.25G>T	c.(25-27)GAG>TAG	p.E9*	PLD3_uc002onj.3_Nonsense_Mutation_p.E9*|PLD3_uc002onk.3_Nonsense_Mutation_p.E9*|PLD3_uc002onl.3_Nonsense_Mutation_p.E9*|PLD3_uc002onn.2_Nonsense_Mutation_p.E9*|PLD3_uc002ono.2_Nonsense_Mutation_p.E9*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	9	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GATGTACCAGGAGGTAGGTGG	0.597		NaN											1	0	7.45023e-12	1	8.35168e-12	20	55				
CYP2A13	1553	broad.mit.edu	37	19	41594955	41594955	+	Missense_Mutation	SNP	G	G	A	rs148044792		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41594955G>A	uc002opt.2	+	2	311	c.302G>A	c.(301-303)CGA>CAA	p.R101Q		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	101			R -> Q (in allele CYP2A13*4).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	TTCAGCGGGCGAGGCGAGCAG	0.642		NaN											0	0	0	1	0	16	65				
CYP2F1	1572	broad.mit.edu	37	19	41633861	41633861	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41633861C>A	uc002opu.1	+	10	1406	c.1350C>A	c.(1348-1350)CTC>CTA	p.L450L	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	450					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						TTCTGTACCTCACCGCCATCC	0.647		NaN											1	0	0.004672	1	0.00473971	3	17				
CYP2S1	29785	broad.mit.edu	37	19	41709440	41709440	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41709440C>T	uc002opw.2	+	7	1117	c.1062C>T	c.(1060-1062)GAC>GAT	p.D354D	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Silent_p.D79D	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	354					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						CTTACACCGACGCGGTTCTGC	0.672		NaN											0	0	0	1	0	4	12				
ARHGEF1	9138	broad.mit.edu	37	19	42399472	42399472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42399472C>T	uc002orx.2	+	12	1037	c.928C>T	c.(928-930)CGG>TGG	p.R310W	ARHGEF1_uc002orw.1_Missense_Mutation_p.R310W|ARHGEF1_uc002ory.2_Missense_Mutation_p.R277W|ARHGEF1_uc002orz.2_Missense_Mutation_p.R148W|ARHGEF1_uc002osa.2_Missense_Mutation_p.R325W|ARHGEF1_uc002osb.2_Missense_Mutation_p.R292W|ARHGEF1_uc002osc.2_Missense_Mutation_p.R4W|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	310					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATGCCCTCTCGGGACCGGAA	0.607		NaN											0	0	0	1	0	50	103				
ARHGEF1	9138	broad.mit.edu	37	19	42410099	42410099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42410099G>A	uc002orx.2	+	26	2522	c.2413G>A	c.(2413-2415)GAG>AAG	p.E805K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E772K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E643K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E820K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E787K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E559K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E464K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E249K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	805					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCCGGACCGAGAGAATCCT	0.667		NaN											0	0	0	1	0	21	67				
CEACAM1	634	broad.mit.edu	37	19	43026086	43026086	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:43026086C>T	uc002otv.2	-	3	806	c.693G>A	c.(691-693)TTG>TTA	p.L231L	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.L231L|CEACAM1_uc010eij.2_Silent_p.L231L|CEACAM1_uc002otx.2_Silent_p.L231L|CEACAM1_uc002oty.2_Silent_p.L231L|CEACAM1_uc002otz.2_Silent_p.L231L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.L231L|CEACAM1_uc002oub.2_Silent_p.L231L|CEACAM1_uc002ouc.2_Silent_p.L231L	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	231	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTGACATTCAAGGTGACTG	0.552		NaN											0	0	0	1	0	28	184				
C19orf61	56006	broad.mit.edu	37	19	44244303	44244303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44244303C>G	uc002oxj.2	-	7	1112	c.769G>C	c.(769-771)GAC>CAC	p.D257H	C19orf61_uc002oxk.2_Missense_Mutation_p.D257H|C19orf61_uc010eiy.1_Missense_Mutation_p.D257H	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	257					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				ATAAAGAAGTCGATGCCACTG	0.572		NaN											0	0	0	1	0	40	103				
ZNF225	7768	broad.mit.edu	37	19	44636229	44636229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44636229G>C	uc002oyj.1	+	5	1705	c.1462G>C	c.(1462-1464)GAA>CAA	p.E488Q	ZNF225_uc010eje.1_Missense_Mutation_p.E405Q|ZNF225_uc010ejf.1_Missense_Mutation_p.E488Q	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	488	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TAAATGTGAAGAATGTGGGAA	0.393		NaN											0	0	0	1	0	27	83				
GRLF1	2909	broad.mit.edu	37	19	47423577	47423577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47423577C>G	uc010ekv.2	+	1	1645	c.1645C>G	c.(1645-1647)CAT>GAT	p.H549D		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	549					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GAAACACATTCATTTTGTGTA	0.473		NaN											0	0	0	1	0	80	116				
NAPA	8775	broad.mit.edu	37	19	47991562	47991562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47991562C>T	uc002pha.1	-	11	1171	c.871G>A	c.(871-873)GAG>AAG	p.E291K	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.E252K|NAPA_uc002phc.1_Missense_Mutation_p.E178K|NAPA_uc002phd.1_Missense_Mutation_p.E291K	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	291					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGGTCCTCCTCATCGCCCTGG	0.632		NaN											0	0	0	1	0	17	70				
SPHK2	56848	broad.mit.edu	37	19	49132306	49132306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49132306C>A	uc002pjr.2	+	7	1607	c.1241C>A	c.(1240-1242)TCA>TAA	p.S414*	SPHK2_uc010xzt.1_Nonsense_Mutation_p.S355*|SPHK2_uc002pjs.2_Nonsense_Mutation_p.S414*|SPHK2_uc002pjt.2_Nonsense_Mutation_p.S208*|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Nonsense_Mutation_p.S378*|SPHK2_uc002pjw.2_Nonsense_Mutation_p.S476*	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		atggcccactcacccctgcat	0.338		NaN											1	0	4.7546e-09	1	5.20035e-09	17	21				
RUVBL2	10856	broad.mit.edu	37	19	49514296	49514296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49514296C>T	uc002plr.1	+	10	841	c.828C>T	c.(826-828)ATC>ATT	p.I276I	RUVBL2_uc002plq.1_Silent_p.I231I|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.I231I|RUVBL2_uc010yac.1_Silent_p.I231I	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	276					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GTGAGCAGATCAATGCCAAGG	0.637		NaN											0	0	0	1	0	6	23				
CD37	951	broad.mit.edu	37	19	49842010	49842010	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49842010G>A	uc002pnd.2	+	6	622	c.501G>A	c.(499-501)CTG>CTA	p.L167L	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L167L|CD37_uc010yan.1_Silent_p.L99L|CD37_uc002pnf.3_Silent_p.L139L|CD37_uc002pne.2_Silent_p.L99L	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	167	Extracellular (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TCCTCATCCTGAGAGGTAACG	0.607		NaN											0	0	0	1	0	19	108				
FCGRT	2217	broad.mit.edu	37	19	50017149	50017149	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:50017149C>T	uc002poe.2	+	3	570	c.84C>T	c.(82-84)CTC>CTT	p.L28L	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L28L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L28L|FCGRT_uc002poh.1_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	28	Extracellular (Potential).|Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AAAGCCACCTCTCCCTCCTGT	0.612		NaN											0	0	0	1	0	72	223				
SHANK1	50944	broad.mit.edu	37	19	51169834	51169834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:51169834C>G	uc002psx.1	-	22	5402	c.5383G>C	c.(5383-5385)GAT>CAT	p.D1795H	SHANK1_uc002psw.1_Missense_Mutation_p.D1179H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1795					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCAGCCCATCGGTTCCAGCC	0.721		NaN											0	0	0	1	0	4	18				
ZNF577	84765	broad.mit.edu	37	19	52375790	52375790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52375790C>A	uc010yde.1	-	7	1844	c.1453G>T	c.(1453-1455)GAA>TAA	p.E485*	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.E426*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.E478*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.E419*	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGATTTATTCTGATACAATA	0.373		NaN											1	0	0.014758	1	0.0149118	5	18				
PPP2R1A	5518	broad.mit.edu	37	19	52719907	52719907	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52719907G>A	uc002pyp.2	+	9	1278	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	PPP2R1A_uc010ydk.1_Silent_p.L318L|PPP2R1A_uc010epm.1_Silent_p.L413L|PPP2R1A_uc002pyq.2_Silent_p.L194L	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	373	PP2A subunit B binding.|HEAT 10.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTCAGCTGAAGGATGAGG	0.547		NaN	Mis		clear cell ovarian carcinoma								0	0	0	1	0	30	50				
ZNF578	147660	broad.mit.edu	37	19	53013953	53013953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53013953G>A	uc002pzp.3	+	6	563	c.319G>A	c.(319-321)GAA>AAA	p.E107K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCAGGAAATTGAAAAAGATAT	0.398		NaN											0	0	0	1	0	63	166				
ZNF813	126017	broad.mit.edu	37	19	53995335	53995335	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53995335A>G	uc002qbu.2	+	4	1977	c.1849A>G	c.(1849-1851)AAT>GAT	p.N617D	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGCTTTTAATTGAAAAGC	0.373		NaN											0	0	0	1	0	7	30				
OSCAR	126014	broad.mit.edu	37	19	54600327	54600327	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54600327G>A	uc002qdd.2	-	4	387	c.270C>T	c.(268-270)TTC>TTT	p.F90F	OSCAR_uc002qcy.2_Silent_p.F69F|OSCAR_uc002qcz.2_Silent_p.F65F|OSCAR_uc002qda.2_Silent_p.F69F|OSCAR_uc002qdb.2_Silent_p.F54F|OSCAR_uc010erc.2_Nonsense_Mutation_p.Q33*|OSCAR_uc002qdc.2_Silent_p.F79F	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	65	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCCAGGCTTGAAAAGTCCAA	0.587		NaN											0	0	0	1	0	45	118				
PRPF31	26121	broad.mit.edu	37	19	54627903	54627903	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54627903C>G	uc002qdh.2	+	8	1119	c.723C>G	c.(721-723)CTC>CTG	p.L241L	PRPF31_uc010yek.1_Silent_p.L241L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	241	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGACCAACCTCTCCAAGATGC	0.647		NaN											0	0	0	1	0	12	101				
LILRA1	11024	broad.mit.edu	37	19	55107894	55107894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107894C>T	uc002qgh.1	+	7	1381	c.1199C>T	c.(1198-1200)TCA>TTA	p.S400L	LILRA2_uc010yfg.1_Missense_Mutation_p.S398L|LILRA1_uc010yfh.1_Missense_Mutation_p.S400L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	400	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGCTACGGCTCACTCAGCTCC	0.572		NaN											0	0	0	1	0	80	136				
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107923C>T	uc002qgh.1	+	7	1410	c.1228C>T	c.(1228-1230)CAC>TAC	p.H410Y	LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	410	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612		NaN											0	0	0	1	0	66	120				
NLRP2	55655	broad.mit.edu	37	19	55493683	55493683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55493683C>T	uc002qij.2	+	6	703	c.617C>T	c.(616-618)TCA>TTA	p.S206L	NLRP2_uc010yfp.1_Missense_Mutation_p.S183L|NLRP2_uc010esn.2_Missense_Mutation_p.S182L|NLRP2_uc010eso.2_Missense_Mutation_p.S203L|NLRP2_uc010esp.2_Missense_Mutation_p.S184L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	206					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGCCCTTCTCATACACGGTG	0.542		NaN											0	0	0	1	0	24	94				
NLRP2	55655	broad.mit.edu	37	19	55502018	55502018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55502018G>A	uc002qij.2	+	10	2772	c.2686G>A	c.(2686-2688)GAG>AAG	p.E896K	NLRP2_uc010yfp.1_Missense_Mutation_p.E873K|NLRP2_uc010esn.2_Missense_Mutation_p.E872K|NLRP2_uc010eso.2_Missense_Mutation_p.E893K|NLRP2_uc010esp.2_Missense_Mutation_p.E874K	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	896					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGGTACCCCGAGTGTAAACT	0.567		NaN											0	0	0	1	0	14	64				
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:56321174C>T	uc010ygf.1	-	5	1513	c.802G>A	c.(802-804)GCT>ACT	p.A268T	NLRP11_uc002qlz.2_Missense_Mutation_p.A169T|NLRP11_uc002qmb.2_Missense_Mutation_p.A169T|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	268	NACHT.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458		NaN											0	0	0	1	0	11	53				
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58639517C>T	uc002qrn.2	-	4	1591	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502		NaN											0	0	0	1	0	9	65				
ZNF132	7691	broad.mit.edu	37	19	58948469	58948469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58948469C>G	uc002qst.3	-	2	578	c.177G>C	c.(175-177)CAG>CAC	p.Q59H		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ACAGGTGCCTCTGGGCTGCAT	0.517		NaN											0	0	0	1	0	13	60				
TPO	7173	broad.mit.edu	37	2	1500420	1500420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:1500420G>A	uc002qww.2	+	13	2360	c.2269G>A	c.(2269-2271)GAG>AAG	p.E757K	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E700K|TPO_uc002qwr.2_Missense_Mutation_p.E757K|TPO_uc002qwx.2_Missense_Mutation_p.E700K|TPO_uc010yio.1_Missense_Mutation_p.E584K|TPO_uc010yip.1_Missense_Mutation_p.E757K|TPO_uc002qwy.1_Missense_Mutation_p.E97K|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	757	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTGCACTGTGAGGAGTCTGG	0.547		NaN											0	0	0	1	0	45	83				
RNASEH1	246243	broad.mit.edu	37	2	3596688	3596688	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:3596688C>A	uc002qxt.2	-	5	614	c.524G>T	c.(523-525)AGA>ATA	p.R175I	RNASEH1_uc002qxs.2_Missense_Mutation_p.R58I	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	175	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CCCAGGAAGTCTAATGCCTAC	0.328		NaN											1	0	7.38237e-10	1	8.16662e-10	28	218				
RSAD2	91543	broad.mit.edu	37	2	7018251	7018251	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:7018251G>A	uc002qyp.1	+	1	456	c.320G>A	c.(319-321)AGA>AAA	p.R107K		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	107					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAGCAAAGAGAGGATTGCTT	0.507		NaN											0	0	0	1	0	17	30				
IAH1	285148	broad.mit.edu	37	2	9628347	9628347	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:9628347C>T	uc002qzr.2	+	6	662	c.636C>T	c.(634-636)CTC>CTT	p.L212L	IAH1_uc002qzs.2_Silent_p.L99L|IAH1_uc002qzt.2_Silent_p.L99L|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	212					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGCATCTCTGGCCTTTGA	0.428		NaN											0	0	0	1	0	12	79				
ODC1	4953	broad.mit.edu	37	2	10582001	10582001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:10582001T>C	uc010exg.1	-	10	1402	c.968A>G	c.(967-969)TAT>TGT	p.Y323C	ODC1_uc002ran.1_Missense_Mutation_p.Y9C|ODC1_uc002rao.1_Missense_Mutation_p.Y323C|ODC1_uc010yjd.1_Missense_Mutation_p.Y193C	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	323					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AAATGATCCATAGACGCCATC	0.383		NaN											0	0	0	1	0	35	168				
PQLC3	130814	broad.mit.edu	37	2	11295764	11295764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:11295764C>T	uc002rbc.2	+	1	225	c.92C>T	c.(91-93)GCG>GTG	p.A31V	PQLC3_uc010yjk.1_Missense_Mutation_p.A31V	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	31						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGCTAGCGGCGCGCAGCGCG	0.721		NaN											0	0	0	1	0	3	3				
MATN3	4148	broad.mit.edu	37	2	20205794	20205794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20205794C>A	uc002rdl.2	-	2	564	c.501G>T	c.(499-501)CAG>CAT	p.Q167H	MATN3_uc010exu.1_Missense_Mutation_p.Q167H	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	167	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGCTGTCTGGATGGCTA	0.567		NaN											1	0	2.32078e-09	1	2.5472e-09	14	52				
RHOB	388	broad.mit.edu	37	2	20647712	20647712	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20647712G>C	uc002rdv.2	+	1	878	c.486G>C	c.(484-486)AAG>AAC	p.K162N		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	162					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTGCCAAGACCAAGGAAG	0.667		NaN											0	0	0	1	0	19	126		Valid		
OTOF	9381	broad.mit.edu	37	2	26706399	26706399	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26706399C>G	uc002rhk.2	-	13	1450	c.1323G>C	c.(1321-1323)AAG>AAC	p.K441N		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	441	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAAGCCTTCTTTACATTGG	0.567		NaN											0	0	0	1	0	17	62				
C2orf70	339778	broad.mit.edu	37	2	26800472	26800472	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26800472A>T	uc010eyn.2	+	3	437	c.437A>T	c.(436-438)GAA>GTA	p.E146V		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	146										skin(1)	1						AGGGAGCCGGAACGGTACCCC	0.597		NaN									OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	8	52				
EIF2B4	8890	broad.mit.edu	37	2	27589789	27589789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589789G>T	uc002rkb.2	-	11	1171	c.1028C>A	c.(1027-1029)TCA>TAA	p.S343*	EIF2B4_uc002rjz.2_Nonsense_Mutation_p.S363*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.S328*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.S342*|EIF2B4_uc002rkd.2_Nonsense_Mutation_p.S137*|EIF2B4_uc002rke.2_Nonsense_Mutation_p.S312*|EIF2B4_uc002rkf.1_3'UTR	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	343					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATTCGTGATACCAGAGA	0.502		NaN											1	0	2.01872e-29	1	2.3357e-29	41	273				
EIF2B4	8890	broad.mit.edu	37	2	27589796	27589796	+	Missense_Mutation	SNP	G	G	T	rs145468921	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589796G>T	uc002rkb.2	-	11	1164	c.1021C>A	c.(1021-1023)CTG>ATG	p.L341M	EIF2B4_uc002rjz.2_Missense_Mutation_p.L361M|EIF2B4_uc002rka.2_Missense_Mutation_p.L326M|EIF2B4_uc002rkc.2_Missense_Mutation_p.L340M|EIF2B4_uc002rkd.2_Missense_Mutation_p.L135M|EIF2B4_uc002rke.2_Missense_Mutation_p.L310M|EIF2B4_uc002rkf.1_3'UTR	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	341					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATACCAGAGATGAGCTA	0.502		NaN											1	0	6.61955e-31	1	7.67307e-31	37	271				
NRBP1	29959	broad.mit.edu	37	2	27656634	27656634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27656634C>G	uc002rko.2	+	4	1137	c.305C>G	c.(304-306)TCT>TGT	p.S102C	NRBP1_uc002rkq.2_Missense_Mutation_p.S102C|NRBP1_uc002rkp.2_Missense_Mutation_p.S102C|NRBP1_uc002rkr.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	102	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTACAGTTCTCTGAACGCAAG	0.478		NaN											0	0	0	1	0	35	57				
GPN1	11321	broad.mit.edu	37	2	27864120	27864120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27864120G>A	uc010ymc.1	+	11	877	c.856G>A	c.(856-858)GAA>AAA	p.E286K	GPN1_uc010ezf.2_Missense_Mutation_p.E260K|GPN1_uc010yma.1_Missense_Mutation_p.E193K|GPN1_uc010ymb.1_Missense_Mutation_p.E177K|GPN1_uc010ymd.1_Missense_Mutation_p.E167K|GPN1_uc010yme.1_Intron|GPN1_uc010ezg.1_Missense_Mutation_p.E167K	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	272						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						GTATCGTCCTGAATATGAACG	0.373		NaN											0	0	0	1	0	29	61				
SLC4A1AP	22950	broad.mit.edu	37	2	27908000	27908000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27908000G>T	uc002rlk.3	+	10	2254	c.1972G>T	c.(1972-1974)GAG>TAG	p.E658*		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	658	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					agaggaagaagagaaagaaaa	0.363		NaN											1	0	9.80776e-20	1	1.12446e-19	30	88				
SPDYA	245711	broad.mit.edu	37	2	29052060	29052060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:29052060G>A	uc002rmj.2	+	6	633	c.427G>A	c.(427-429)GAA>AAA	p.E143K	SPDYA_uc002rmi.2_Missense_Mutation_p.E143K|SPDYA_uc002rmk.2_Missense_Mutation_p.E143K|SPDYA_uc002rml.2_Missense_Mutation_p.E143K	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	143	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					AACCAAGTACGAAATTTTTCC	0.279		NaN											0	0	0	1	0	11	65				
BIRC6	57448	broad.mit.edu	37	2	32617216	32617216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:32617216C>G	uc010ezu.2	+	5	1083	c.949C>G	c.(949-951)CAG>GAG	p.Q317E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	317	BIR.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATTTTATCATCAGGTAAAAAA	0.368		NaN											0	0	0	1	0	3	12				
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37035867C>T	uc002rpl.2	+	15	1863	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587		NaN											0	0	0	1	0	14	91				
VIT	5212	broad.mit.edu	37	2	37041503	37041503	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37041503G>A	uc002rpl.2	+	16	2302	c.2081G>A	c.(2080-2082)TGA>TAA	p.*694*	VIT_uc002rpm.2_Silent_p.*672*|VIT_uc010ezv.2_Silent_p.*650*|VIT_uc010ezw.2_Silent_p.*651*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	694						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CCTCGGAACTGAATTCAGAGC	0.517		NaN											0	0	0	1	0	28	37				
SULT6B1	391365	broad.mit.edu	37	2	37402322	37402322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37402322G>C	uc002rpu.2	-	5	484	c.463C>G	c.(463-465)CTT>GTT	p.L155V	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	193						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				TCGCCATCAAGATGTTTGTTC	0.313		NaN											0	0	0	1	0	8	48				
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37410658C>G	uc002rpu.2	-	3	220	c.199_splice	c.e3-1	p.R67_splice	SULT6B1_uc010yni.1_Splice_Site	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member							cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.328		NaN											0	0	0	1	0	19	47				
PRKD3	23683	broad.mit.edu	37	2	37516589	37516589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37516589C>G	uc002rqd.2	-	4	1182	c.627G>C	c.(625-627)AAG>AAC	p.K209N	PRKD3_uc002rqf.1_Missense_Mutation_p.K209N	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	209					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				ACAGACGTCTCTTTCTTACTC	0.398		NaN											0	0	0	1	0	32	70				
CYP1B1	1545	broad.mit.edu	37	2	38302448	38302448	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:38302448C>T	uc002rqo.2	-	3	487	c.84G>A	c.(82-84)TCG>TCA	p.S28S		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	28			S -> W (in POAG).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	TGGCCAGCACCGACAGGAGTA	0.682		NaN											0	0	0	1	0	5	13				
ABCG5	64240	broad.mit.edu	37	2	44041638	44041638	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:44041638G>A	uc002rtn.2	-	12	1880	c.1740C>T	c.(1738-1740)TTC>TTT	p.F580F	ABCG5_uc002rtm.2_Silent_p.F185F|ABCG5_uc002rto.2_Silent_p.F409F|ABCG5_uc002rtp.2_Silent_p.F185F	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	580	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGTCCGTAGAACTCATTGA	0.308		NaN											0	0	0	1	0	9	56				
MSH6	2956	broad.mit.edu	37	2	48027189	48027189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:48027189C>G	uc002rwd.3	+	4	2219	c.2067C>G	c.(2065-2067)TTC>TTG	p.F689L	MSH6_uc002rwc.2_Missense_Mutation_p.F689L|MSH6_uc010fbj.2_Missense_Mutation_p.F387L|MSH6_uc010yoi.1_Missense_Mutation_p.F559L|MSH6_uc010yoj.1_Missense_Mutation_p.F387L	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	689					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGTGTCTTCTACCTCAAAA	0.423		NaN	Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	1	0	54	169				
PNPT1	87178	broad.mit.edu	37	2	55900125	55900125	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:55900125G>T	uc002rzf.2	-	9	822	c.769C>A	c.(769-771)CAG>AAG	p.Q257K	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	257					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATGCCCTGAATTATTTGT	0.398		NaN											1	0	1.40151e-16	1	1.59955e-16	19	134				
ARHGAP25	9938	broad.mit.edu	37	2	69053293	69053293	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:69053293C>G	uc002seu.2	+	11	2269	c.1905C>G	c.(1903-1905)GTC>GTG	p.V635V	ARHGAP25_uc010fdg.2_Silent_p.V636V|ARHGAP25_uc010yql.1_Silent_p.V596V|ARHGAP25_uc002sew.2_Silent_p.V628V|ARHGAP25_uc002sex.2_Silent_p.V629V|ARHGAP25_uc002sey.2_Silent_p.V362V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	635	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						AGGAATTTGTCAAATCCATGA	0.552		NaN											0	0	0	1	0	12	73				
SFXN5	94097	broad.mit.edu	37	2	73226123	73226123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73226123G>T	uc002siq.2	-	9	620	c.489C>A	c.(487-489)TTC>TTA	p.F163L	SFXN5_uc002sio.2_Missense_Mutation_p.F55L|SFXN5_uc010yrc.1_Nonsense_Mutation_p.S20*|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.F163L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	163	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						ATCCCTGGATGAACTTGGATG	0.592		NaN											1	0	5.18039e-06	1	5.46217e-06	8	32				
FBXO41	150726	broad.mit.edu	37	2	73487572	73487572	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73487572C>A	uc002sjb.1	-	11	2577	c.2577G>T	c.(2575-2577)GAG>GAT	p.E859D		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	798						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GCACCAGCATCTCCAGTCCCT	0.617		NaN											1	0	6.4e-05	1	6.66446e-05	3	17				
EGR4	1961	broad.mit.edu	37	2	73519500	73519500	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73519500G>A	uc010yrj.1	-	2	930	c.855C>T	c.(853-855)GTC>GTT	p.V285V	EGR4_uc010yrk.1_Silent_p.V284V	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	181						intracellular	nucleic acid binding|zinc ion binding				0						GGCCGGGCTTGACGTCGGGCG	0.721		NaN											0	0	0	1	0	4	13				
TPRKB	51002	broad.mit.edu	37	2	73957849	73957849	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73957849C>G	uc002sjn.2	-	4	390	c.279G>C	c.(277-279)TTG>TTC	p.L93F	TPRKB_uc002sjm.2_Missense_Mutation_p.L132F|TPRKB_uc002sjl.2_Missense_Mutation_p.L60F|TPRKB_uc002sjo.2_Missense_Mutation_p.L93F|TPRKB_uc010yrm.1_Missense_Mutation_p.L60F	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	93					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						CAAATTTTTTCAAAGCCTCTG	0.308		NaN											0	0	0	1	0	9	59				
SLC4A5	57835	broad.mit.edu	37	2	74466593	74466593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74466593C>T	uc002sko.1	-	16	2190	c.2188G>A	c.(2188-2190)GGG>AGG	p.G730R	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G730R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G730R|SLC4A5_uc002skp.1_Missense_Mutation_p.G666R|SLC4A5_uc002sks.1_Missense_Mutation_p.G730R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	730	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						AGCAGGCGCCCGCCGTAGCTC	0.537		NaN											0	0	0	1	0	32	62				
MRPL53	116540	broad.mit.edu	37	2	74699709	74699709	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74699709C>G	uc002sln.2	-	1	219	c.79G>C	c.(79-81)GTG>CTG	p.V27L	CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	27						mitochondrion|ribosome					0						GTCGATTCCACGTTTTTCTCG	0.592		NaN											0	0	0	1	0	13	80				
LBX2	85474	broad.mit.edu	37	2	74725193	74725193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74725193G>A	uc002slv.3	-	2	463	c.458C>T	c.(457-459)TCG>TTG	p.S153L	LBX2_uc002slw.2_Missense_Mutation_p.S149L	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCGCGTAGCGAGGCGACGTC	0.692		NaN											0	0	0	1	0	21	60				
DQX1	165545	broad.mit.edu	37	2	74749805	74749805	+	Nonsense_Mutation	SNP	G	G	C	rs145468372		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74749805G>C	uc010yrw.1	-	8	1562	c.1397C>G	c.(1396-1398)TCA>TGA	p.S466*	DQX1_uc002smc.2_Nonsense_Mutation_p.S27*	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	466						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						AGGGAATTCTGATAGTATGAC	0.557		NaN											0	0	0	1	0	34	200				
LOXL3	84695	broad.mit.edu	37	2	74763222	74763222	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74763222G>C	uc002smp.1	-	7	1221	c.1149C>G	c.(1147-1149)CTC>CTG	p.L383L	LOXL3_uc002smo.1_Silent_p.L22L|LOXL3_uc010ffm.1_Silent_p.L383L|LOXL3_uc002smq.1_Silent_p.L238L|LOXL3_uc010ffn.1_Silent_p.L238L	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	383	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						GGCACTTCCAGAGGGAGAGCT	0.542		NaN											0	0	0	1	0	18	101				
LRRTM1	347730	broad.mit.edu	37	2	80530006	80530006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:80530006C>T	uc002sok.1	-	2	1209	c.939G>A	c.(937-939)GGG>GGA	p.G313G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	313	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CCCACAGGTTCCCGGCCAGGG	0.632		NaN								HNSCC(69;0.2)			0	0	0	1	0	18	35				
RPIA	22934	broad.mit.edu	37	2	88999546	88999546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:88999546G>C	uc002ste.2	+	3	407	c.366G>C	c.(364-366)GAG>GAC	p.E122D		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	122					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGAAGCAAGAGAATCTGAACC	0.453		NaN											0	0	0	1	0	11	95				
VWA3B	200403	broad.mit.edu	37	2	98844712	98844712	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:98844712T>G	uc002syo.2	+	15	2331	c.2067T>G	c.(2065-2067)AGT>AGG	p.S689R	VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S208R|VWA3B_uc002sym.2_Missense_Mutation_p.S689R|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S346R|VWA3B_uc002syp.1_Missense_Mutation_p.S81R|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.S6R	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	689										ovary(3)|large_intestine(2)|skin(1)	6						AGGGTCACAGTGATCTGGAGA	0.418		NaN											0	0	0	1	0	20	88				
IL18RAP	8807	broad.mit.edu	37	2	103068601	103068601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:103068601C>G	uc002tbx.2	+	12	2244	c.1760C>G	c.(1759-1761)ACA>AGA	p.T587R	IL18RAP_uc010fiz.2_Missense_Mutation_p.T445R	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	587	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						CTCAGTAGAACAGAAACCACT	0.507		NaN											0	0	0	1	0	28	108				
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:107040564C>T	uc010ywi.1	-	20	3916	c.3859G>A	c.(3859-3861)GAG>AAG	p.E1287K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					intracellular transport		binding			ovary(1)	1						GTTGTTGACTCATCAAAGTGG	0.408		NaN											0	0	0	1	0	10	162				
PTPN4	5775	broad.mit.edu	37	2	120703971	120703971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:120703971G>A	uc002tmf.1	+	17	2341	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K	PTPN4_uc010flj.1_Missense_Mutation_p.E237K|PTPN4_uc010yyr.1_Missense_Mutation_p.E157K	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	524	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	GAAACCTGATGAAAATGGGAG	0.269		NaN											0	0	0	1	0	21	79				
CLASP1	23332	broad.mit.edu	37	2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:122145474C>A	uc002tnc.2	-	30	3522	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	CLASP1_uc010yyv.1_Missense_Mutation_p.Q129H|CLASP1_uc002tmz.2_Missense_Mutation_p.Q129H|CLASP1_uc002tna.2_Missense_Mutation_p.Q129H|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1024H|CLASP1_uc010yza.1_Missense_Mutation_p.Q1016H|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_5'UTR	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1044					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					TTAGCACAATCTGTGCTGCCT	0.333		NaN											1	0	8.12818e-05	1	8.44313e-05	7	33				
ERCC3	2071	broad.mit.edu	37	2	128018835	128018835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:128018835C>T	uc002toh.1	-	13	2128	c.2033G>A	c.(2032-2034)AGA>AAA	p.R678K	ERCC3_uc002toe.1_Missense_Mutation_p.R433K|ERCC3_uc002tof.1_Missense_Mutation_p.R614K|ERCC3_uc002tog.1_Missense_Mutation_p.R614K	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	678	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCAAGAATCTCTGCCGCTT	0.463		NaN	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	13	38				
NCKAP5	344148	broad.mit.edu	37	2	133541789	133541789	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:133541789A>G	uc002ttp.2	-	14	2969	c.2595T>C	c.(2593-2595)ATT>ATC	p.I865I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	865							protein binding				0						AATGTTTTGGAATGTGTGGAT	0.542		NaN											0	0	0	1	0	23	84				
RAB3GAP1	22930	broad.mit.edu	37	2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:135908057C>T	uc002tuj.2	+	18	2067	c.2042C>T	c.(2041-2043)TCA>TTA	p.S681L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S681L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S506L|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	681						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468		NaN											0	0	0	1	0	4	42				
NR4A2	4929	broad.mit.edu	37	2	157186448	157186448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:157186448G>A	uc002tyz.3	-	3	673	c.251C>T	c.(250-252)TCC>TTC	p.S84F	NR4A2_uc002tyx.3_Missense_Mutation_p.S21F|NR4A2_uc010zcf.1_Missense_Mutation_p.S84F|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	84	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						CTGCTGTCCGGACAGGGGCAT	0.542		NaN											0	0	0	1	0	17	82				
TANC1	85461	broad.mit.edu	37	2	160042372	160042372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:160042372G>C	uc002uag.2	+	15	2855	c.2581G>C	c.(2581-2583)GAG>CAG	p.E861Q	TANC1_uc010zcm.1_Missense_Mutation_p.E853Q|TANC1_uc010fom.1_Missense_Mutation_p.E667Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	861						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCAGACCATGGAGCTTGGCCA	0.522		NaN											0	0	0	1	0	7	23				
SCN1A	6323	broad.mit.edu	37	2	166908450	166908450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:166908450G>C	uc010zcz.1	-	6	761	c.743C>G	c.(742-744)TCA>TGA	p.S248*	SCN1A_uc002udo.3_Nonsense_Mutation_p.S117*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.S117*	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	248	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTACATCTGAGAGCTTCTT	0.423		NaN											0	0	0	1	0	17	76				
METTL5	29081	broad.mit.edu	37	2	170669018	170669018	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:170669018T>C	uc002ufn.2	-	6	788	c.542_splice	c.e6-1	p.E181_splice	METTL5_uc002ufo.2_Splice_Site_p.E181_splice|METTL5_uc002ufp.2_Splice_Site_p.E181_splice|METTL5_uc002ufq.1_Intron	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity|nucleic acid binding			central_nervous_system(1)	1						ATCGAAGTTCTGTAAAACAAA	0.358		NaN											0	0	0	1	0	34	64				
HAT1	8520	broad.mit.edu	37	2	172822425	172822425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172822425C>G	uc002uhi.2	+	6	683	c.607C>G	c.(607-609)CTA>GTA	p.L203V	HAT1_uc010fqi.2_Missense_Mutation_p.L38V|HAT1_uc002uhj.2_Missense_Mutation_p.L118V	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	203					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCACTACTTTCTAGTGTAAGT	0.378		NaN											0	0	0	1	0	20	115				
HAT1	8520	broad.mit.edu	37	2	172841129	172841129	+	Missense_Mutation	SNP	G	G	A	rs140409528		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172841129G>A	uc002uhi.2	+	9	933	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	HAT1_uc010fqi.2_Missense_Mutation_p.R121Q|HAT1_uc002uhj.2_Missense_Mutation_p.R201Q	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	286					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGAAATTACGAGACTTTGTG	0.353		NaN											0	0	0	1	0	20	40				
OSBPL6	114880	broad.mit.edu	37	2	179197760	179197760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179197760G>A	uc002ulx.2	+	8	1027	c.649G>A	c.(649-651)GAT>AAT	p.D217N	OSBPL6_uc002ulw.2_Missense_Mutation_p.D217N|OSBPL6_uc002uly.2_Missense_Mutation_p.D217N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D217N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D217N|OSBPL6_uc002uma.2_Missense_Mutation_p.D196N	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	217					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTGTAATGGATGGAAAGGT	0.299		NaN											0	0	0	1	0	10	59				
TTN	7273	broad.mit.edu	37	2	179603040	179603040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179603040C>T	uc010zfg.1	-	46	10632	c.10408G>A	c.(10408-10410)GGC>AGC	p.G3470S	TTN_uc010zfh.1_Missense_Mutation_p.G4543S|TTN_uc010zfi.1_Missense_Mutation_p.G4476S|TTN_uc010zfj.1_Missense_Mutation_p.G4351S|TTN_uc002umz.1_Missense_Mutation_p.G131S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4397							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGGTGGCCCAGTGCTACT	0.483		NaN											0	0	0	1	0	7	26				
TTN	7273	broad.mit.edu	37	2	179605533	179605533	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179605533G>T	uc010zfh.1	-	46	12138	c.11914C>A	c.(11914-11916)CTC>ATC	p.L3972I	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905I|TTN_uc010zfj.1_Missense_Mutation_p.L3780I|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTTGAGAGGCTGAAAG	0.473		NaN											1	0	1.55811e-20	1	1.78963e-20	30	119				
DNAJC10	54431	broad.mit.edu	37	2	183582961	183582961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183582961G>A	uc002uow.1	+	3	563	c.148G>A	c.(148-150)GAA>AAA	p.E50K	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.E50K|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	50	J.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCAGTAGAGAAATAAGACA	0.338		NaN											0	0	0	1	0	18	69				
NCKAP1	10787	broad.mit.edu	37	2	183860508	183860508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183860508G>C	uc002upc.2	-	7	1064	c.662C>G	c.(661-663)GCT>GGT	p.A221G	NCKAP1_uc002upb.2_Missense_Mutation_p.A227G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	221					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACTGGTCAGCTGAAAGATT	0.368		NaN											0	0	0	1	0	12	69				
SLC40A1	30061	broad.mit.edu	37	2	190428686	190428686	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:190428686G>A	uc002uqp.3	-	7	1377	c.1026C>T	c.(1024-1026)CTC>CTT	p.L342L		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	342	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAAAATACTGAGGATGGAAC	0.478		NaN											0	0	0	1	0	7	48				
TMEFF2	23671	broad.mit.edu	37	2	193049159	193049159	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:193049159C>T	uc002utc.2	-	3	727	c.333G>A	c.(331-333)CAG>CAA	p.Q111Q	TMEFF2_uc002utd.1_Silent_p.Q111Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	111	Kazal-like 1.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AACACTCATTCTGGTAGCTCT	0.473		NaN											0	0	0	1	0	14	54				
DNAH7	56171	broad.mit.edu	37	2	196834710	196834710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:196834710G>C	uc002utj.3	-	17	2268	c.2167C>G	c.(2167-2169)CAA>GAA	p.Q723E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	723	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTCAGTATTTGAGCCTTTTTT	0.328		NaN											0	0	0	1	0	7	57				
STK17B	9262	broad.mit.edu	37	2	197004437	197004437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197004437G>C	uc002utk.2	-	7	1067	c.743C>G	c.(742-744)TCT>TGT	p.S248C	STK17B_uc010fsh.2_Missense_Mutation_p.S248C	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	248	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTAACTTGAGAAATATTGAG	0.333		NaN											0	0	0	1	0	46	74				
ANKRD44	91526	broad.mit.edu	37	2	197865158	197865158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197865158C>G	uc002uua.1	-	23	2506	c.2429G>C	c.(2428-2430)AGA>ACA	p.R810T	ANKRD44_uc002utz.3_Missense_Mutation_p.R542T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	835							protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGTCATCTCTACAACTGAC	0.378		NaN											0	0	0	1	0	7	51				
SF3B1	23451	broad.mit.edu	37	2	198257807	198257807	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198257807T>C	uc002uue.2	-	24	3693	c.3645A>G	c.(3643-3645)GTA>GTG	p.V1215V		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1215					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATTGGGCCATACATAGTTCA	0.448		NaN											0	0	0	1	0	21	54				
SF3B1	23451	broad.mit.edu	37	2	198274635	198274635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198274635C>T	uc002uue.2	-	7	811	c.763G>A	c.(763-765)GAT>AAT	p.D255N		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	255	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTGTAGGATCCCATATTTTT	0.572		NaN											0	0	0	1	0	26	130				
HSPD1	3329	broad.mit.edu	37	2	198358196	198358196	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198358196C>A	uc002uui.2	-	7	858	c.721G>T	c.(721-723)GAT>TAT	p.D241Y	HSPD1_uc002uuj.2_Missense_Mutation_p.D239Y|HSPD1_uc010zgx.1_Missense_Mutation_p.D232Y|HSPD1_uc010fsm.2_Missense_Mutation_p.D52Y|HSPD1_uc002uuk.2_Missense_Mutation_p.D241Y	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	241					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ACATAGGCATCCTGGAATTCA	0.343		NaN											1	0	5.01169e-05	1	5.22743e-05	17	50				
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:201761901C>G	uc002uwm.2	+	5	920	c.829C>G	c.(829-831)CAT>GAT	p.H277D	NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	277					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						AAAACTATCTCATATTCGCTT	0.423		NaN											0	0	0	1	0	27	104				
ALS2CR12	130540	broad.mit.edu	37	2	202154187	202154187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202154187G>A	uc010ftg.2	-	14	1648	c.1204C>T	c.(1204-1206)CAT>TAT	p.H402Y	ALS2CR12_uc002uya.3_Missense_Mutation_p.H379Y|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	402	Potential.				regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CACTTCAGATGAATGTTCTCT	0.433		NaN											0	0	0	1	0	21	67				
CDK15	65061	broad.mit.edu	37	2	202700471	202700471	+	Missense_Mutation	SNP	C	C	G	rs61383268		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202700471C>G	uc002uyt.2	+	8	885	c.836C>G	c.(835-837)TCT>TGT	p.S279C	CDK15_uc010ftm.2_Missense_Mutation_p.S144C|CDK15_uc002uys.2_Missense_Mutation_p.S228C|CDK15_uc010ftn.1_Missense_Mutation_p.S228C|CDK15_uc010fto.1_Missense_Mutation_p.S258C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	279	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GAATATTCCTCTGAGCTGGAC	0.468		NaN											0	0	0	1	0	17	47				
ALS2CR8	79800	broad.mit.edu	37	2	203831746	203831746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:203831746A>G	uc002uzo.2	+	9	1158	c.878A>G	c.(877-879)AAA>AGA	p.K293R	ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zib.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zic.1_Missense_Mutation_p.K205R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.K293R	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	293										large_intestine(1)|ovary(1)	2						CCAAGAAGAAAAGGTTTCCAG	0.408		NaN											0	0	0	1	0	23	122				
ZDBF2	57683	broad.mit.edu	37	2	207169584	207169584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:207169584C>T	uc002vbp.2	+	5	582	c.332C>T	c.(331-333)TCA>TTA	p.S111L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	111							nucleic acid binding|zinc ion binding			ovary(3)	3						TCCGAGGTTTCAGAACCTATT	0.448		NaN											0	0	0	1	0	19	28				
ARPC2	10109	broad.mit.edu	37	2	219114628	219114628	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:219114628G>C	uc002vhd.2	+	10	974	c.862G>C	c.(862-864)GAA>CAA	p.E288Q	ARPC2_uc002vhe.2_Missense_Mutation_p.E288Q|ARPC2_uc002vhf.2_Missense_Mutation_p.E174Q	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	288					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGAGAAAAAAGAAATGAAAAC	0.542		NaN											0	0	0	1	0	4	15				
DOCK10	55619	broad.mit.edu	37	2	225652012	225652012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:225652012C>G	uc010fwz.1	-	49	5760	c.5521G>C	c.(5521-5523)GAG>CAG	p.E1841Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1835Q|DOCK10_uc002voa.2_Missense_Mutation_p.E497Q|DOCK10_uc002voc.2_Missense_Mutation_p.E662Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1841	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTTGTTTCTCAAAGACAGCA	0.368		NaN											0	0	0	1	0	20	110				
IRS1	3667	broad.mit.edu	37	2	227661897	227661897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:227661897G>A	uc002voh.3	-	1	1610	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	520					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTCGGAACCGATTATCCAGA	0.592		NaN									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	12	65				
MFF	56947	broad.mit.edu	37	2	228220436	228220436	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:228220436G>C	uc002vos.2	+	10	1274	c.856G>C	c.(856-858)GAT>CAT	p.D286H	MFF_uc002vot.2_Missense_Mutation_p.D235H|MFF_uc002vou.2_Missense_Mutation_p.D208H|MFF_uc002vov.2_Missense_Mutation_p.D182H|MFF_uc002vow.2_Missense_Mutation_p.D187H|MFF_uc002vox.2_Missense_Mutation_p.D162H|MFF_uc002voy.2_Missense_Mutation_p.D286H|MFF_uc002voz.2_Missense_Mutation_p.D162H|MFF_uc002vpa.2_Missense_Mutation_p.D74H	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	286	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						AGGAACGTCAGATGACCTGAC	0.323		NaN											0	0	0	1	0	65	104				
TRIP12	9320	broad.mit.edu	37	2	230723948	230723948	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:230723948C>A	uc002vpw.1	-	3	550	c.441G>T	c.(439-441)CAG>CAT	p.Q147H	TRIP12_uc002vpx.1_Missense_Mutation_p.Q189H|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.Q147H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	147					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTTCTTTTCTGACTCCGTG	0.488		NaN											1	0	4.22769e-11	1	4.7099e-11	27	97				
ARMC9	80210	broad.mit.edu	37	2	232146826	232146826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:232146826C>T	uc002vrq.3	+	17	1718	c.1606C>T	c.(1606-1608)CGT>TGT	p.R536C	ARMC9_uc002vrp.3_Missense_Mutation_p.R536C|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	536							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCCATCCATTCGTGAGGAAGC	0.428		NaN											0	0	0	1	0	23	76				
CHRND	1144	broad.mit.edu	37	2	233398643	233398643	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233398643C>G	uc002vsw.2	+	10	1054	c.1050C>G	c.(1048-1050)CTC>CTG	p.L350L	CHRND_uc010zmg.1_Silent_p.L335L|CHRND_uc010fyc.2_Silent_p.L223L|CHRND_uc010zmh.1_Silent_p.L156L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	350	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCCCCAGCTCTTCCTGGAGA	0.453		NaN											0	0	0	1	0	17	66				
CHRND	1144	broad.mit.edu	37	2	233399028	233399028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233399028G>A	uc002vsw.2	+	11	1351	c.1347G>A	c.(1345-1347)ATG>ATA	p.M449I	CHRND_uc010zmg.1_Missense_Mutation_p.M434I|CHRND_uc010fyc.2_Missense_Mutation_p.M322I|CHRND_uc010zmh.1_Missense_Mutation_p.M255I	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	449	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TTAACCACATGAGGGACCAGA	0.502		NaN											0	0	0	1	0	12	39				
INPP5D	3635	broad.mit.edu	37	2	233986856	233986856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233986856G>A	uc010zmo.1	+	3	391	c.238G>A	c.(238-240)GAC>AAC	p.D80N	INPP5D_uc010zmp.1_Missense_Mutation_p.D80N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	80	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACCAAGCTGGACCAGCTCAT	0.522		NaN											0	0	0	1	0	12	81				
COL6A3	1293	broad.mit.edu	37	2	238280791	238280791	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:238280791G>C	uc002vwl.2	-	9	4154	c.3869C>G	c.(3868-3870)TCC>TGC	p.S1290C	COL6A3_uc002vwo.2_Missense_Mutation_p.S1084C|COL6A3_uc010znj.1_Missense_Mutation_p.S683C|COL6A3_uc002vwq.2_Missense_Mutation_p.S1084C|COL6A3_uc002vwr.2_Missense_Mutation_p.S883C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1290	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCTTGCTGGAATGGGCGTT	0.607		NaN											0	0	0	1	0	15	30				
NDUFA10	4705	broad.mit.edu	37	2	240958025	240958025	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:240958025G>A	uc002vyn.2	-	4	572	c.492C>T	c.(490-492)TTC>TTT	p.F164F	NDUFA10_uc010fzc.1_Silent_p.F164F|NDUFA10_uc002vyo.1_Silent_p.F164F|NDUFA10_uc002vyp.2_Silent_p.F164F	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	164					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CAAAGTCACTGAAGATGGAGC	0.473		NaN											0	0	0	1	0	5	39				
ANO7	50636	broad.mit.edu	37	2	242157737	242157737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242157737C>T	uc002wax.2	+	21	2527	c.2424C>T	c.(2422-2424)CTC>CTT	p.L808L		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	808	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GCGGCTTCCTCAACTTCACGC	0.741		NaN											0	0	0	1	0	3	4				
HDLBP	3069	broad.mit.edu	37	2	242176173	242176173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242176173C>G	uc002waz.2	-	21	2989	c.2761G>C	c.(2761-2763)GAG>CAG	p.E921Q	HDLBP_uc002wba.2_Missense_Mutation_p.E921Q|HDLBP_uc002wbb.2_Missense_Mutation_p.E873Q	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	921	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACAACTGGCTCTGTACTGTGA	0.527		NaN											0	0	0	1	0	26	51				
C2orf85	285093	broad.mit.edu	37	2	242815144	242815144	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242815144C>T	uc010fzu.1	+	2	1460	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	479						integral to membrane				ovary(1)	1						TCGCAGTCTTCGATGTCATAA	0.632		NaN											0	0	0	1	0	15	73				
JAG1	182	broad.mit.edu	37	20	10653409	10653409	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:10653409G>A	uc002wnw.2	-	2	843	c.327C>T	c.(325-327)CTC>CTT	p.L109L		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	109	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGCTGGCCTTGAGGTTGAAGG	0.662		NaN							Alagille_Syndrome				0	0	0	1	0	11	20				
RBBP9	10741	broad.mit.edu	37	20	18477724	18477724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:18477724C>T	uc002wqy.2	-	1	164	c.88G>A	c.(88-90)GAG>AAG	p.E30K		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	30						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TTCTCCAGCTCCTTTTTCACC	0.612		NaN											0	0	0	1	0	4	32				
C20orf26	26074	broad.mit.edu	37	20	20177348	20177348	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:20177348G>T	uc002wru.2	+	16	1801	c.1725G>T	c.(1723-1725)CTG>CTT	p.L575L	C20orf26_uc010zse.1_Silent_p.L555L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	575										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		AGTTCTTTCTGAAGGAGATCC	0.468		NaN											1	0	2.79863e-10	1	3.10412e-10	27	47				
ASXL1	171023	broad.mit.edu	37	20	31021535	31021535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31021535C>T	uc002wxs.2	+	11	1960	c.1534C>T	c.(1534-1536)CAG>TAG	p.Q512*	ASXL1_uc010geb.2_Nonsense_Mutation_p.Q403*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	512					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TAGCCTGCCTCAGGAAACTGT	0.547		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	34	167				
ASXL1	171023	broad.mit.edu	37	20	31023784	31023784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31023784G>C	uc002wxs.2	+	12	3695	c.3269G>C	c.(3268-3270)AGA>ACA	p.R1090T	ASXL1_uc010geb.2_Missense_Mutation_p.R981T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1090					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TACCAGCCAAGAGCCGTGTGC	0.572		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	20	73				
GSS	2937	broad.mit.edu	37	20	33530781	33530781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:33530781G>A	uc002xbg.2	-	4	384	c.304C>T	c.(304-306)CGT>TGT	p.R102C	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.R33C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	102					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAAAGAGACGAGCGGTAAAG	0.478		NaN											0	0	0	1	0	5	9				
KIAA0406	9675	broad.mit.edu	37	20	36634718	36634718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:36634718C>G	uc002xhl.2	-	4	2593	c.2384G>C	c.(2383-2385)AGA>ACA	p.R795T	KIAA0406_uc002xhm.2_Missense_Mutation_p.R795T	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	795							binding				0		Myeloproliferative disorder(115;0.00874)				AGCTGCTGGTCTTTGGTTCAA	0.463		NaN											0	0	0	1	0	52	73				
ZHX3	23051	broad.mit.edu	37	20	39832521	39832521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39832521C>A	uc002xjs.1	-	3	1414	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xju.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.E346*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.E346*	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	346	Homeobox 1.|Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTGAGCTGTTCTTCTGGATAC	0.507		NaN											1	0	3.08376e-08	1	3.34384e-08	25	42				
EMILIN3	90187	broad.mit.edu	37	20	39990162	39990162	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39990162G>C	uc002xjy.1	-	4	2271	c.2047C>G	c.(2047-2049)CAG>GAG	p.Q683E		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	683						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACTGTGTGCTGAAGTTTCTGG	0.657		NaN											0	0	0	1	0	5	24				
PLTP	5360	broad.mit.edu	37	20	44538206	44538206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44538206G>A	uc002xqn.1	-	5	514	c.434C>T	c.(433-435)TCC>TTC	p.S145F	PLTP_uc002xql.1_Missense_Mutation_p.S57F|PLTP_uc002xqm.1_Missense_Mutation_p.S165F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Missense_Mutation_p.S145F|PLTP_uc002xqq.1_Missense_Mutation_p.S114F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.S145F	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	145					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGCCTGGCAGGAGACATTGGA	0.622		NaN											0	0	0	1	0	17	130				
PCIF1	63935	broad.mit.edu	37	20	44567904	44567904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44567904C>T	uc002xqs.2	+	4	489	c.175C>T	c.(175-177)CGT>TGT	p.R59C		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	59	WW.					nucleus				skin(1)	1						GAGGGAGAATCGTCCCTACTA	0.632		NaN											0	0	0	1	0	16	91				
ZNF335	63925	broad.mit.edu	37	20	44578480	44578480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44578480C>T	uc002xqw.2	-	24	3751	c.3628G>A	c.(3628-3630)GAT>AAT	p.D1210N	ZNF335_uc002xqv.2_Missense_Mutation_p.D322N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1055N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1210	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTCTGGCCATCTGCCGTGGTG	0.582		NaN											0	0	0	1	0	16	99				
SLC13A3	64849	broad.mit.edu	37	20	45192108	45192108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:45192108G>T	uc002xsf.1	-	12	1615	c.1577C>A	c.(1576-1578)TCA>TAA	p.S526*	SLC13A3_uc010ghn.1_Nonsense_Mutation_p.S495*|SLC13A3_uc010zxw.1_Nonsense_Mutation_p.S476*|SLC13A3_uc002xsg.1_Nonsense_Mutation_p.S479*|SLC13A3_uc010gho.1_Nonsense_Mutation_p.S444*|SLC13A3_uc010zxx.1_Nonsense_Mutation_p.S428*|SLC13A3_uc002xse.1_Nonsense_Mutation_p.S17*|SLC13A3_uc010ghm.1_Nonsense_Mutation_p.S113*|SLC13A3_uc010zxv.1_Nonsense_Mutation_p.S111*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	526	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGGGCGTTGAGACCGGGAG	0.617		NaN											1	0	1.5842e-08	1	1.72077e-08	13	23				
NCOA3	8202	broad.mit.edu	37	20	46267858	46267858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:46267858C>G	uc002xtk.2	+	14	2824	c.2619C>G	c.(2617-2619)ATC>ATG	p.I873M	NCOA3_uc010ght.1_Missense_Mutation_p.I883M|NCOA3_uc002xtl.2_Missense_Mutation_p.I873M|NCOA3_uc002xtm.2_Missense_Mutation_p.I873M|NCOA3_uc002xtn.2_Missense_Mutation_p.I873M|NCOA3_uc010zyc.1_Missense_Mutation_p.I668M	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	873					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TAAAAAATATCAGTGCTTTCC	0.438		NaN											0	0	0	1	0	22	69				
DDX27	55661	broad.mit.edu	37	20	47859135	47859135	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47859135G>C	uc002xuh.2	+	19	2275	c.2214G>C	c.(2212-2214)AAG>AAC	p.K738N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	738						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACAGCCAAGAAGCAAAAGC	0.433		NaN											0	0	0	1	0	21	125				
ZNFX1	57169	broad.mit.edu	37	20	47888002	47888002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47888002C>G	uc002xui.2	-	3	594	c.347G>C	c.(346-348)AGA>ACA	p.R116T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	116							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGTGGTCTGCGGTTCCT	0.547		NaN											0	0	0	1	0	60	243				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699389	48699389	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:48699389G>A	uc002xvf.2	-	8	1190	c.1029C>T	c.(1027-1029)GTC>GTT	p.V343V	UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_Silent_p.V120V|UBE2V1_uc002xvc.2_Silent_p.V76V|UBE2V1_uc002xvd.2_Silent_p.V143V|UBE2V1_uc002xve.2_Silent_p.V143V	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	120					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCTCTTGCAGGACAACTTTGA	0.418		NaN											0	0	0	1	0	18	73				
MC3R	4159	broad.mit.edu	37	20	54824451	54824451	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:54824451G>C	uc002xxb.2	+	1	664	c.552G>C	c.(550-552)GAG>GAC	p.E184D		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	221	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TCTACTCGGAGAGCAAAATGG	0.572		NaN											0	0	0	1	0	11	91				
GNAS	2778	broad.mit.edu	37	20	57484238	57484238	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:57484238G>A	uc002xzw.2	+	7	2766	c.2481G>A	c.(2479-2481)GTG>GTA	p.V827V	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	184					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGATCGACGTGATCAAGCAGG	0.507		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	1	0	58	249				
TAF4	6874	broad.mit.edu	37	20	60575275	60575275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:60575275C>A	uc002ybs.2	-	11	2692	c.2692G>T	c.(2692-2694)GTA>TTA	p.V898L		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	898					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TAACTTACTACATCTGGATGT	0.348		NaN											1	0	6.42651e-13	1	7.25574e-13	11	95				
DIDO1	11083	broad.mit.edu	37	20	61512984	61512984	+	Missense_Mutation	SNP	C	C	G	rs142722598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61512984C>G	uc002ydr.1	-	16	4588	c.4324G>C	c.(4324-4326)GAT>CAT	p.D1442H	DIDO1_uc002yds.1_Missense_Mutation_p.D1442H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1442					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGCAGGTCATCAACAGTCACT	0.627		NaN											0	0	0	1	0	46	92				
COL20A1	57642	broad.mit.edu	37	20	61936863	61936863	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61936863C>T	uc011aau.1	+	4	388	c.288C>T	c.(286-288)TTC>TTT	p.F96F	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	96	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGCAGATCTTCGAGCTCACTG	0.627		NaN											0	0	0	1	0	7	7				
PRIC285	85441	broad.mit.edu	37	20	62200734	62200734	+	Silent	SNP	G	G	A	rs147054984		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62200734G>A	uc002yfm.2	-	5	1747	c.855C>T	c.(853-855)CTC>CTT	p.L285L	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	285					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGGGTGGCCGAGCGCCAGAT	0.692		NaN											0	0	0	1	0	5	14				
TCEA2	6919	broad.mit.edu	37	20	62701842	62701842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62701842G>C	uc011abs.1	+	8	1329	c.673G>C	c.(673-675)GAG>CAG	p.E225Q	TCEA2_uc011abr.1_Missense_Mutation_p.E198Q|TCEA2_uc010gks.2_Missense_Mutation_p.E226Q	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	225	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGTGCTCCAGGAGATGGCCAG	0.642		NaN											0	0	0	1	0	18	31				
SOD1	6647	broad.mit.edu	37	21	33039654	33039654	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:33039654C>G	uc002ypa.2	+	4	471	c.323C>G	c.(322-324)TCA>TGA	p.S108*	SOD1_uc002ypb.2_Nonsense_Mutation_p.S89*|SOD1_uc002ypc.2_RNA	NM_000454	NP_000445	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	108					activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding				0						ATCTCACTCTCAGGAGACCAT	0.403		NaN											0	0	0	1	0	9	81				
DSCAM	1826	broad.mit.edu	37	21	41496164	41496164	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:41496164G>A	uc002yyq.1	-	20	4106	c.3654C>T	c.(3652-3654)ATC>ATT	p.I1218I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1218	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCGGATGATGCCGTTCA	0.572		NaN											0	0	0	1	0	34	110				
RRP1B	23076	broad.mit.edu	37	21	45107624	45107624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:45107624G>T	uc002zdk.2	+	13	1483	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	RRP1B_uc002zdl.2_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	457					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CACTGGGGAGGAGAGTGGCTC	0.637		NaN											1	0	3.41278e-10	1	3.78198e-10	18	41				
ADARB1	104	broad.mit.edu	37	21	46603308	46603308	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:46603308C>G	uc002zgy.2	+	7	1714	c.1279C>G	c.(1279-1281)CAG>GAG	p.Q427E	ADARB1_uc002zgr.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.Q427E|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	427	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		ATCCATCTTTCAGAAATCAGA	0.378		NaN											0	0	0	1	0	5	33				
MCM3AP	8888	broad.mit.edu	37	21	47663416	47663416	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:47663416C>T	uc002zir.1	-	24	5295	c.5259G>A	c.(5257-5259)CTG>CTA	p.L1753L	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L248L|MCM3AP_uc002zip.1_Silent_p.L494L|MCM3AP_uc002ziq.1_Silent_p.L680L|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1753					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					TCCAGTCTCTCAGCTTGTGGT	0.552		NaN											0	0	0	1	0	31	153				
CDC45	8318	broad.mit.edu	37	22	19506422	19506422	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19506422C>A	uc002zpr.2	+	18	1768	c.1692C>A	c.(1690-1692)CTC>CTA	p.L564L	CDC45_uc011aha.1_Silent_p.L596L|CDC45_uc002zps.2_Silent_p.L565L|CDC45_uc002zpt.2_Silent_p.L518L	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	564					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						TTATTTCCCTCCTGTCCTAGG	0.557		NaN											1	0	1.55469e-16	1	1.77277e-16	22	66				
SEPT5	5413	broad.mit.edu	37	22	19709228	19709228	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19709228G>T	uc002zpv.1	+	9	908	c.783G>T	c.(781-783)CGG>CGT	p.R261R	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	261					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					AGCGGGTCCGGGGCCGACTGT	0.682		NaN											1	0	4.7546e-09	1	5.20035e-09	16	40				
C22orf29	79680	broad.mit.edu	37	22	19839388	19839388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19839388G>A	uc002zqg.2	-	2	996	c.397C>T	c.(397-399)CAG>TAG	p.Q133*	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Nonsense_Mutation_p.Q133*|C22orf29_uc002zqi.2_Nonsense_Mutation_p.Q133*|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	133											0	Colorectal(54;0.0993)					ATGTTGTCCTGATAGTGCTCA	0.622		NaN											0	0	0	1	0	18	88				
GGT1	2678	broad.mit.edu	37	22	25016336	25016336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25016336G>T	uc003aan.1	+	8	911	c.424G>T	c.(424-426)GAG>TAG	p.E142*	GGT1_uc003aas.1_Nonsense_Mutation_p.E142*|GGT1_uc003aat.1_Nonsense_Mutation_p.E142*|GGT1_uc003aau.1_Nonsense_Mutation_p.E142*|GGT1_uc003aav.1_Nonsense_Mutation_p.E142*|GGT1_uc003aaw.1_Nonsense_Mutation_p.E142*|GGT1_uc003aax.1_Nonsense_Mutation_p.E142*	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	142	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCGAGGCTATGAGCTGGCACA	0.687		NaN											1	0	0.000602214	1	0.000619927	5	26				
SGSM1	129049	broad.mit.edu	37	22	25297899	25297899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25297899G>A	uc003abg.2	+	21	3032	c.2875G>A	c.(2875-2877)GAG>AAG	p.E959K	SGSM1_uc003abh.2_Missense_Mutation_p.E898K|SGSM1_uc010guu.1_Missense_Mutation_p.E904K|SGSM1_uc003abj.2_Missense_Mutation_p.E843K|SGSM1_uc003abi.1_Missense_Mutation_p.E879K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	959	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCCAACTTGGAGAAGCTGCG	0.622		NaN											0	0	0	1	0	9	4				
SF3A1	10291	broad.mit.edu	37	22	30733035	30733035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:30733035C>A	uc003ahl.2	-	13	2218	c.2086G>T	c.(2086-2088)GAG>TAG	p.E696*		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	696					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						CGCAGGAACTCCTCCTCTGGC	0.557		NaN											1	0	4.87955e-14	1	5.52899e-14	24	70				
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:31722980G>T	uc003akq.2	-	5	2622	c.1961C>A	c.(1960-1962)TCT>TAT	p.S654Y	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.S608Y	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CTCGAGGAGAGACATGTTCTG	0.567		NaN											1	0	2.27731e-05	1	2.38323e-05	21	79				
C22orf24	25775	broad.mit.edu	37	22	32334043	32334043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:32334043G>C	uc003aly.2	-	2	177	c.10C>G	c.(10-12)CAA>GAA	p.Q4E	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	4						integral to membrane				central_nervous_system(1)	1						GTATCCTCTTGAGTTGTCATG	0.328		NaN											0	0	0	1	0	47	194				
APOL5	80831	broad.mit.edu	37	22	36123215	36123215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36123215G>C	uc003aof.2	+	3	1100	c.1100G>C	c.(1099-1101)CGA>CCA	p.R367P		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	367					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						AGGGCTGTTCGAGGATCCCGT	0.607		NaN											0	0	0	1	0	9	52				
MYH9	4627	broad.mit.edu	37	22	36684830	36684830	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36684830C>A	uc003apg.2	-	33	4944	c.4713G>T	c.(4711-4713)CGG>CGT	p.R1571R		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1571	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGCAGGTCCCGCTCGAACT	0.642		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				1	0	2.27731e-05	1	2.38323e-05	22	139				
FOXRED2	80020	broad.mit.edu	37	22	36894043	36894043	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36894043C>T	uc003apn.3	-	5	1485	c.1377G>A	c.(1375-1377)TTG>TTA	p.L459L	FOXRED2_uc003apm.3_Silent_p.L11L|FOXRED2_uc003apo.3_Silent_p.L459L|FOXRED2_uc003app.3_Silent_p.L459L	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	459					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						CTCACTCCTTCAACAGGATGA	0.602		NaN											0	0	0	1	0	19	53				
MICALL1	85377	broad.mit.edu	37	22	38323565	38323565	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323565C>G	uc003aui.2	+	9	1697	c.1613C>G	c.(1612-1614)TCA>TGA	p.S538*		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	538	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					AAGAGCTCCTCAGAGCCTGCT	0.637		NaN											0	0	0	1	0	14	69				
MICALL1	85377	broad.mit.edu	37	22	38323678	38323678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323678C>G	uc003aui.2	+	9	1810	c.1726C>G	c.(1726-1728)CAA>GAA	p.Q576E		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	576	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					ACAAATGCCTCAAGCCAGCCC	0.642		NaN											0	0	0	1	0	24	130				
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39425374G>A	uc011aoe.1	+	5	666	c.612G>A	c.(610-612)CCG>CCA	p.P204P	APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.P204P|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522		NaN											0	0	0	1	0	23	51				
APOBEC3G	60489	broad.mit.edu	37	22	39477087	39477087	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39477087C>T	uc003awx.2	+	3	663	c.321C>T	c.(319-321)TTC>TTT	p.F107F	APOBEC3G_uc003awy.2_Silent_p.F40F	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	107					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					TGGCCACGTTCCTGGCCGAGG	0.562		NaN											0	0	0	1	0	13	87				
RPL3	6122	broad.mit.edu	37	22	39710727	39710727	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39710727C>T	uc003axi.2	-	6	881	c.813G>A	c.(811-813)CAG>CAA	p.Q271Q	RPL3_uc003axh.2_Silent_p.Q222Q|RPL3_uc003axj.2_Silent_p.Q119Q|RPL3_uc010gxx.2_Silent_p.Q219Q|RPL3_uc003axg.2_Silent_p.Q219Q|RPL3_uc003axk.1_Silent_p.Q119Q	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	271					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					GGTAGCCTTTCTGCCCAGCGC	0.622		NaN											0	0	0	1	0	9	31				
CACNA1I	8911	broad.mit.edu	37	22	40058011	40058011	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:40058011C>T	uc003ayc.2	+	17	2943	c.2943C>T	c.(2941-2943)AGC>AGT	p.S981S	CACNA1I_uc003ayd.2_Silent_p.S946S|CACNA1I_uc003aye.2_Silent_p.S896S|CACNA1I_uc003ayf.2_Silent_p.S861S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	981	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGGGCCGCAGCGCGGCCTGGG	0.721		NaN											0	0	0	1	0	3	4				
WBP2NL	164684	broad.mit.edu	37	22	42422777	42422777	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:42422777C>G	uc011ape.1	+	7	538	c.522C>G	c.(520-522)GTC>GTG	p.V174V	WBP2NL_uc003bbt.2_Silent_p.V174V|WBP2NL_uc011apk.1_Silent_p.V46V|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	174					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						CAGTTATTGTCTATGGAGCCC	0.468		NaN											0	0	0	1	0	51	85				
ARFGAP3	26286	broad.mit.edu	37	22	43230283	43230283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43230283C>A	uc003bdd.2	-	5	662	c.442G>T	c.(442-444)GAG>TAG	p.E148*	ARFGAP3_uc010gzf.2_Nonsense_Mutation_p.E104*|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	148					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						AAATCTTCCTCCTTTGGTGGA	0.423		NaN											1	0	6.00099e-30	1	6.94967e-30	70	110				
TTLL1	25809	broad.mit.edu	37	22	43447825	43447825	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43447825C>T	uc003bdi.2	-	9	1201	c.960G>A	c.(958-960)CTG>CTA	p.L320L	TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.L206L|TTLL1_uc003bdh.2_Silent_p.L282L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	320	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCCAGGGCTTCAGCTTGTCGT	0.572		NaN											0	0	0	1	0	17	59				
SMC1B	27127	broad.mit.edu	37	22	45785753	45785753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:45785753G>A	uc003bgc.2	-	10	1622	c.1570C>T	c.(1570-1572)CAT>TAT	p.H524Y	SMC1B_uc003bgd.2_Missense_Mutation_p.H524Y|SMC1B_uc003bge.1_Missense_Mutation_p.H307Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	524	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAATAGGATGACACAGGTCA	0.338		NaN											0	0	0	1	0	36	73				
WNT7B	7477	broad.mit.edu	37	22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46327115C>T	uc003bgo.2	-	3	807	c.433G>A	c.(433-435)GAG>AAG	p.E145K	WNT7B_uc010haa.2_Missense_Mutation_p.E149K	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	145					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687		NaN											0	0	0	1	0	15	69				
PKDREJ	10343	broad.mit.edu	37	22	46655581	46655581	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46655581A>G	uc003bhh.2	-	1	3639	c.3639T>C	c.(3637-3639)CAT>CAC	p.H1213H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1213	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCCCCGAAGATGCTGGTCCA	0.438		NaN											0	0	0	1	0	24	117				
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:50719197C>T	uc003bkv.3	-	24	4075	c.3969G>A	c.(3967-3969)CTG>CTA	p.L1323L	PLXNB2_uc003bkt.1_Silent_p.L115L|PLXNB2_uc003bku.1_Silent_p.L308L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1323	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTGCTGTTCAGCAGGTTGG	0.657		NaN											0	0	0	1	0	8	29				
BHLHE40	8553	broad.mit.edu	37	3	5025300	5025300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:5025300C>T	uc003bqf.2	+	5	1469	c.1162C>T	c.(1162-1164)CAT>TAT	p.H388Y	BHLHE40_uc011asw.1_Missense_Mutation_p.H248Y	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	388						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTGCCAGCTCATCCGTCCGT	0.547		NaN											0	0	0	1	0	67	84				
RPL32	6161	broad.mit.edu	37	3	12877707	12877707	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:12877707C>T	uc003bxl.2	-	3	507	c.294G>A	c.(292-294)GAG>GAA	p.E98E	RPL32_uc003bxm.2_Silent_p.E98E|RPL32_uc003bxn.2_Silent_p.E98E	NM_001007074	NP_001007075	P62910	RL32_HUMAN	ribosomal protein L32	98					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			ovary(1)	1						TGTGAGCGATCTCGGCACAGT	0.522		NaN											0	0	0	1	0	37	45				
FBLN2	2199	broad.mit.edu	37	3	13670693	13670693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:13670693C>T	uc011avb.1	+	12	2727	c.2602C>T	c.(2602-2604)CGC>TGC	p.R868C	FBLN2_uc011auz.1_Missense_Mutation_p.R894C|FBLN2_uc011ava.1_Missense_Mutation_p.R915C|FBLN2_uc011avc.1_Missense_Mutation_p.R915C	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	868	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGTGTGCACCGCTGCGGTGA	0.652		NaN											0	0	0	1	0	12	46				
XPC	7508	broad.mit.edu	37	3	14190071	14190071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:14190071G>A	uc011ave.1	-	13	2515	c.2411C>T	c.(2410-2412)TCC>TTC	p.S804F	XPC_uc011avf.1_Missense_Mutation_p.S611F|XPC_uc011avg.1_Missense_Mutation_p.S767F	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	804	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						CACGGGATGGGAGTAGCCGCC	0.612		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				0	0	0	1	0	5	54				
EAF1	85403	broad.mit.edu	37	3	15477906	15477906	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477906C>G	uc003bzu.2	+	5	807	c.584C>G	c.(583-585)TCT>TGT	p.S195C	EAF1_uc011avq.1_Missense_Mutation_p.S94C	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	195	Ser-rich.|Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						GGGAGCAGCTCTTCAGACTCT	0.532		NaN											0	0	0	1	0	35	22				
EAF1	85403	broad.mit.edu	37	3	15477986	15477986	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477986C>T	uc003bzu.2	+	5	887	c.664C>T	c.(664-666)CCG>TCG	p.P222S	EAF1_uc011avq.1_Missense_Mutation_p.P121S	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						AGCCTCTCCTCCGCAGCCTTC	0.587		NaN											0	0	0	1	0	68	39				
NEK10	152110	broad.mit.edu	37	3	27233641	27233641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:27233641G>C	uc010hfk.2	-	5	549	c.320C>G	c.(319-321)TCT>TGT	p.S107C	NEK10_uc003cds.1_Missense_Mutation_p.S192C|NEK10_uc010hfj.2_Missense_Mutation_p.S107C			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	795							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CTGGGATGTAGATAAGTTGTC	0.433		NaN											0	0	0	1	0	29	69				
UBP1	7342	broad.mit.edu	37	3	33467109	33467109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:33467109C>T	uc003cfq.3	-	2	768	c.238G>A	c.(238-240)GAT>AAT	p.D80N	UBP1_uc003cfr.3_Missense_Mutation_p.D80N|UBP1_uc010hga.2_Missense_Mutation_p.D80N	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	80					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						AGCGTTTCATCATGCAGTTTT	0.403		NaN											0	0	0	1	0	17	18				
ITGA9	3680	broad.mit.edu	37	3	37574872	37574872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:37574872C>T	uc003chd.2	+	14	1494	c.1441C>T	c.(1441-1443)CAG>TAG	p.Q481*	ITGA9_uc003chc.2_Nonsense_Mutation_p.Q481*	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	481	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CACAGCGCCTCAGTGTCACGA	0.557		NaN											0	0	0	1	0	9	34				
DLEC1	9940	broad.mit.edu	37	3	38139354	38139354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38139354G>A	uc003cho.1	+	18	2706	c.2685G>A	c.(2683-2685)ATG>ATA	p.M895I	DLEC1_uc003chp.1_Missense_Mutation_p.M895I|DLEC1_uc010hgv.1_Missense_Mutation_p.M895I|DLEC1_uc003chr.1_Missense_Mutation_p.M1I|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	895					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGGCGCATGAAGGAGAGCC	0.597		NaN											0	0	0	1	0	13	51				
SLC22A14	9389	broad.mit.edu	37	3	38359724	38359724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38359724C>G	uc010hhc.1	+	11	1811	c.1769C>G	c.(1768-1770)TCA>TGA	p.S590*	SLC22A14_uc003cib.2_Nonsense_Mutation_p.S590*|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	590	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AAGGAAACATCATCTGATGAT	0.488		NaN											0	0	0	1	0	21	109				
EIF1B	10289	broad.mit.edu	37	3	40352532	40352532	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:40352532G>A	uc003ckc.2	+	2	440	c.180G>A	c.(178-180)GTG>GTA	p.V60V	uc003ckb.2_5'Flank	NM_005875	NP_005866	O60739	EIF1B_HUMAN	translation factor sui1 homolog	60					regulation of translational initiation		protein binding|translation initiation factor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAACTTGTGAAAGCTTTCA	0.398		NaN											0	0	0	1	0	12	76				
LARS2	23395	broad.mit.edu	37	3	45441783	45441783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45441783C>G	uc003cop.1	+	4	466	c.281C>G	c.(280-282)TCT>TGT	p.S94C	LARS2_uc010hit.1_Intron	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	94	HIGH region.				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTTATCCTTCTGGTAAGCTG	0.463		NaN											0	0	0	1	0	34	79				
LZTFL1	54585	broad.mit.edu	37	3	45872601	45872601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45872601C>G	uc003cox.1	-	6	624	c.486G>C	c.(484-486)GAG>GAC	p.E162D	LZTFL1_uc003coy.1_Missense_Mutation_p.E145D|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	162	Potential.										0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACTTCAATTTCTCATTCTCTT	0.224		NaN											0	0	0	1	0	6	31				
SCAP	22937	broad.mit.edu	37	3	47459204	47459204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:47459204G>C	uc003crh.1	-	17	2815	c.2560C>G	c.(2560-2562)CTG>GTG	p.L854V	SCAP_uc011baz.1_Missense_Mutation_p.L598V|SCAP_uc003crg.2_Missense_Mutation_p.L461V	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	854	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTGTCTCAGGGGAGGGCTG	0.657		NaN											0	0	0	1	0	5	15				
P4HTM	54681	broad.mit.edu	37	3	49040020	49040020	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49040020G>T	uc003cvg.2	+	4	1064	c.715G>T	c.(715-717)GAT>TAT	p.D239Y	P4HTM_uc003cvh.2_Missense_Mutation_p.D239Y|P4HTM_uc010hkm.1_Missense_Mutation_p.D125Y	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	239	Lumenal (Potential).|EF-hand 2.|2 (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GGCTGACCCTGATGGTGACGG	0.562		NaN											1	0	2.27111e-07	1	2.43748e-07	13	72				
DALRD3	55152	broad.mit.edu	37	3	49054900	49054900	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49054900T>C	uc003cvk.1	-	4	785	c.765A>G	c.(763-765)CTA>CTG	p.L255L	DALRD3_uc003cvl.1_Silent_p.L255L|DALRD3_uc003cvm.1_Silent_p.L88L|DALRD3_uc010hko.1_Silent_p.L88L|DALRD3_uc011bca.1_Silent_p.L255L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	255					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAATGCCATAGAGCCTCTT	0.527		NaN											0	0	0	1	0	16	26				
QRICH1	54870	broad.mit.edu	37	3	49094851	49094851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49094851G>A	uc010hkq.2	-	4	1078	c.782C>T	c.(781-783)TCA>TTA	p.S261L	QRICH1_uc003cvu.2_Missense_Mutation_p.S261L|QRICH1_uc003cvv.2_Missense_Mutation_p.S261L	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	261	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGCTGCCCTGAGATGGCGTA	0.612		NaN											0	0	0	1	0	11	57				
C3orf62	375341	broad.mit.edu	37	3	49314142	49314142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49314142G>A	uc003cwn.2	-	1	367	c.164C>T	c.(163-165)TCC>TTC	p.S55F	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	55											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGAGAAGGAGAGCGGCGC	0.587		NaN											0	0	0	1	0	13	54				
GMPPB	29925	broad.mit.edu	37	3	49759286	49759286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49759286C>T	uc003cxk.1	-	9	1207	c.982G>A	c.(982-984)GAG>AAG	p.E328K	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.E355K	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	328					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGACGTCCTCACCCAGCACT	0.597		NaN											0	0	0	1	0	14	40				
C3orf18	51161	broad.mit.edu	37	3	50603073	50603073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:50603073C>G	uc003das.2	-	2	509	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	C3orf18_uc003dar.2_Missense_Mutation_p.E20Q|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.E20Q|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.E20Q	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	hypothetical protein LOC51161	20						integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGGTCAGACTCAGAGGTGGGT	0.622		NaN											0	0	0	1	0	3	23				
DUSP7	1849	broad.mit.edu	37	3	52090218	52090218	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52090218C>A	uc003dct.2	-	1	244	c.165G>T	c.(163-165)AAG>AAT	p.K55N	DUSP7_uc010hma.2_Missense_Mutation_p.K55N	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	55					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGGCGCTCTTGCAGGGCA	0.398		NaN											1	0	0.115264	1	0.115908	3	7				
POC1A	25886	broad.mit.edu	37	3	52183865	52183865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52183865C>T	uc003dcu.2	-	3	560	c.242G>A	c.(241-243)CGA>CAA	p.R81Q	POC1A_uc003dcv.2_Missense_Mutation_p.R43Q|POC1A_uc003dcw.2_Missense_Mutation_p.R81Q	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	81	WD 2.					centriole|microtubule basal body					0						AGTCTTGTCTCGGGAGCCGGA	0.597		NaN											0	0	0	1	0	11	51				
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62188855G>A	uc003dlb.2	+	12	2105	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	PTPRG_uc003dlc.2_Silent_p.A462A	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547		NaN											0	0	0	1	0	13	65				
CADPS	8618	broad.mit.edu	37	3	62385241	62385241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62385241C>T	uc003dll.2	-	30	4262	c.3902G>A	c.(3901-3903)CGA>CAA	p.R1301Q	CADPS_uc003dlj.1_Missense_Mutation_p.R256Q|CADPS_uc003dlk.1_Missense_Mutation_p.R749Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1262Q|CADPS_uc003dln.2_Missense_Mutation_p.R1222Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1301	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCTTGCAATCGGAAATCTCT	0.488		NaN											0	0	0	1	0	19	67				
PDZRN3	23024	broad.mit.edu	37	3	73453372	73453372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:73453372C>T	uc003dpl.1	-	4	1189	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E22K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E63K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E82K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E85K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	365							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGATATGTTCAAAGGTGATG	0.512		NaN											0	0	0	1	0	49	65				
CNTN3	5067	broad.mit.edu	37	3	74351884	74351884	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:74351884C>T	uc003dpm.1	-	13	1823	c.1743G>A	c.(1741-1743)ACG>ACA	p.T581T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	581	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCACCCCCGTTTGCACCA	0.408		NaN											0	0	0	1	0	5	23				
TFG	10342	broad.mit.edu	37	3	100432575	100432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432575C>T	uc003due.2	+	2	495	c.46C>T	c.(46-48)CAA>TAA	p.Q16*	TFG_uc003duf.2_Nonsense_Mutation_p.Q16*|TFG_uc003dug.2_Nonsense_Mutation_p.Q16*|TFG_uc003duh.2_Nonsense_Mutation_p.Q16*|TFG_uc003dui.2_Nonsense_Mutation_p.Q16*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						CATCAAAGCTCAACTTGGGGA	0.378		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	1	0	38	79				
TFG	10342	broad.mit.edu	37	3	100432661	100432661	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432661C>T	uc003due.2	+	2	581	c.132C>T	c.(130-132)TTC>TTT	p.F44F	TFG_uc003duf.2_Silent_p.F44F|TFG_uc003dug.2_Silent_p.F44F|TFG_uc003duh.2_Silent_p.F44F|TFG_uc003dui.2_Silent_p.F44F	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	44					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						AACGAGTTTTCAGAGGAAAAC	0.289		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	1	0	32	56				
CEP97	79598	broad.mit.edu	37	3	101451356	101451356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101451356G>A	uc003dvk.1	+	6	613	c.586G>A	c.(586-588)GAA>AAA	p.E196K	CEP97_uc010hpm.1_Missense_Mutation_p.E162K|CEP97_uc011bhf.1_Missense_Mutation_p.E196K|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.E34K	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	196	LRR 8.					centrosome|nucleus	protein binding			ovary(2)	2						ATCCTTAACTGAATTGGAACA	0.398		NaN											0	0	0	1	0	8	52				
FAM55C	91775	broad.mit.edu	37	3	101540511	101540511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540511C>T	uc003dvn.2	+	8	2030	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.R465*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	465						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GAACATCCGTCGAGCAGTGGT	0.572		NaN											0	0	0	1	0	18	92				
FAM55C	91775	broad.mit.edu	37	3	101540531	101540531	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540531C>T	uc003dvn.2	+	8	2050	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	FAM55C_uc010hpn.2_Silent_p.L471L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	471						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						TTCGGCTCCTCGATCGAAGCC	0.572		NaN											0	0	0	1	0	18	110				
SLC35A5	55032	broad.mit.edu	37	3	112300027	112300027	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:112300027C>G	uc003dze.2	+	6	1308	c.1063C>G	c.(1063-1065)CCC>GCC	p.P355A		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						TGACTTCAGGCCCTCCCTGGA	0.448		NaN											0	0	0	1	0	13	72				
BOC	91653	broad.mit.edu	37	3	113002302	113002302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113002302C>G	uc003dzx.2	+	16	3097	c.2476C>G	c.(2476-2478)CTG>GTG	p.L826V	BOC_uc003dzy.2_Missense_Mutation_p.L826V|BOC_uc003dzz.2_Missense_Mutation_p.L827V|BOC_uc003eab.2_Missense_Mutation_p.L527V|BOC_uc003eac.2_Missense_Mutation_p.L141V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	826	Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACCCCCAACTCTGGCCCCACC	0.572		NaN											0	0	0	1	0	30	143				
KIAA2018	205717	broad.mit.edu	37	3	113379239	113379239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113379239C>G	uc003eam.2	-	7	1701	c.1290G>C	c.(1288-1290)CAG>CAC	p.Q430H	KIAA2018_uc003eal.2_Missense_Mutation_p.Q374H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	430					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TCCACGTTGTCTGTGTGTTTC	0.413		NaN											0	0	0	1	0	16	79				
ZBTB20	26137	broad.mit.edu	37	3	114069835	114069835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:114069835C>T	uc003ebi.2	-	4	1270	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	ZBTB20_uc003ebj.2_Missense_Mutation_p.E291K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E291K|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCCTCGGCCTGGTCT	0.607		NaN											0	0	0	1	0	16	52				
MYLK	4638	broad.mit.edu	37	3	123419600	123419600	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123419600C>T	uc003ego.2	-	18	2997	c.2715G>A	c.(2713-2715)GTG>GTA	p.V905V	MYLK_uc011bjw.1_Silent_p.V905V|MYLK_uc003egp.2_Silent_p.V836V|MYLK_uc003egq.2_Silent_p.V905V|MYLK_uc003egr.2_Silent_p.V836V|MYLK_uc003egs.2_Silent_p.V729V|MYLK_uc003egt.2_Silent_p.V96V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	905	1-2.|5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTTGTACTCACCTTCTTCC	0.592		NaN											0	0	0	1	0	8	55				
CCDC14	64770	broad.mit.edu	37	3	123634090	123634090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123634090G>A	uc011bjx.1	-	13	2489	c.2398C>T	c.(2398-2400)CAG>TAG	p.Q800*	CCDC14_uc003egv.3_Nonsense_Mutation_p.Q441*|CCDC14_uc003egx.3_Nonsense_Mutation_p.Q600*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.Q759*|CCDC14_uc003egy.3_Nonsense_Mutation_p.Q600*|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	800						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATTTGTGGCTGAGGGGATAGT	0.388		NaN											0	0	0	1	0	17	74				
EEFSEC	60678	broad.mit.edu	37	3	127872571	127872571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:127872571C>T	uc003eki.2	+	1	259	c.221C>T	c.(220-222)GCG>GTG	p.A74V	EEFSEC_uc003ekj.2_Missense_Mutation_p.A74V|RUVBL1_uc003ekf.2_5'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	74						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TTCCAGGCAGCGCCCGAGGCC	0.716		NaN											0	0	0	1	0	2	2				
ACAD9	28976	broad.mit.edu	37	3	128631370	128631370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:128631370G>A	uc003ela.3	+	18	1988	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.E473K|ACAD9_uc003elb.2_Missense_Mutation_p.E473K|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.E248K|uc003elf.1_Intron	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	596						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						AAACCTAGATGAGCAGATTAA	0.512		NaN											0	0	0	1	0	21	28				
C3orf37	56941	broad.mit.edu	37	3	129007759	129007759	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129007759C>T	uc003elt.2	+	3	334	c.246C>T	c.(244-246)TTC>TTT	p.F82F	C3orf37_uc003elu.2_Silent_p.F82F|C3orf37_uc003elv.2_Silent_p.F82F|C3orf37_uc003elw.2_Silent_p.F82F	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	82										ovary(1)	1						CTTCTTGGTTCAAAGAAAGTG	0.478		NaN											0	0	0	1	0	9	69				
H1FX	8971	broad.mit.edu	37	3	129034497	129034497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129034497C>G	uc003elx.2	-	1	624	c.249G>C	c.(247-249)CAG>CAC	p.Q83H	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	83	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						TGCGCCCATTCTGCTGGTCGA	0.612		NaN											0	0	0	1	0	3	3				
COL6A6	131873	broad.mit.edu	37	3	130287183	130287183	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130287183C>T	uc010htl.2	+	5	2167	c.2136C>T	c.(2134-2136)TTC>TTT	p.F712F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	712	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTCAGTACTTCAGCCCCACCA	0.502		NaN											0	0	0	1	0	21	93				
NEK11	79858	broad.mit.edu	37	3	130799266	130799266	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130799266G>C	uc003eny.2	+	4	497	c.171_splice	c.e4-1	p.L57_splice	NEK11_uc003enx.2_Splice_Site_p.L57_splice|NEK11_uc003eoa.2_Splice_Site_p.L57_splice|NEK11_uc003enz.2_Splice_Site|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Splice_Site_p.L57_splice|NEK11_uc003enw.1_Splice_Site_p.L57_splice|NEK11_uc011blm.1_Splice_Site_p.L57_splice|NEK11_uc010hto.1_5'Flank	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						TTTGATCTCAGAAAGGTACTT	0.378		NaN											0	0	0	1	0	3	18				
TMEM22	80723	broad.mit.edu	37	3	136574418	136574418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:136574418C>G	uc003erf.3	+	2	1330	c.1116C>G	c.(1114-1116)ATC>ATG	p.I372M	TMEM22_uc003erg.3_Missense_Mutation_p.I372M|TMEM22_uc010hub.2_Missense_Mutation_p.I372M	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	372	DUF6 2.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						TTCCTAGCATCTATGATGTTT	0.403		NaN											0	0	0	1	0	33	157				
MED12L	116931	broad.mit.edu	37	3	150883739	150883739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:150883739C>G	uc003eyp.2	+	10	1502	c.1464C>G	c.(1462-1464)TTC>TTG	p.F488L	MED12L_uc011bnz.1_Missense_Mutation_p.F348L|MED12L_uc003eyn.2_Missense_Mutation_p.F488L|MED12L_uc003eyo.2_Missense_Mutation_p.F488L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	488					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGATTTTCTGGGCAAACC	0.343		NaN											0	0	0	1	0	25	98				
OTOL1	131149	broad.mit.edu	37	3	161221331	161221331	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221331C>T	uc011bpb.1	+	4	1035	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	345	C1q.					collagen					0						GGTCGGCTTTCAGCGCTGGTT	0.517		NaN											0	0	0	1	0	13	41				
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221535C>G	uc011bpb.1	+	4	1239	c.1239C>G	c.(1237-1239)TTC>TTG	p.F413L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	413	C1q.					collagen					0						AGAAGCAGTTCAAGTCCAGAG	0.473		NaN											0	0	0	1	0	5	42				
LRRIQ4	344657	broad.mit.edu	37	3	169539961	169539961	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:169539961G>T	uc003fgb.2	+	1	252	c.252G>T	c.(250-252)AGG>AGT	p.R84S		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	84	LRR 3.										0						ACAACCTGAGGAGCCTGTGCC	0.532		NaN											1	0	6.72482e-11	1	7.47862e-11	15	124				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	12	81		Valid		
YEATS2	55689	broad.mit.edu	37	3	183503990	183503990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183503990C>T	uc003fly.2	+	20	3009	c.2814C>T	c.(2812-2814)CTC>CTT	p.L938L	YEATS2_uc003flz.2_Silent_p.L17L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	938					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCACAGCTCTCGAAGCCTG	0.547		NaN											0	0	0	1	0	30	54				
DVL3	1857	broad.mit.edu	37	3	183883967	183883967	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183883967G>T	uc003fms.2	+	8	957	c.817G>T	c.(817-819)GAC>TAC	p.D273Y	DVL3_uc011bqw.1_Missense_Mutation_p.D273Y|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.D105Y	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	273	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGAGCGTGGTGACGGCGGCAT	0.502		NaN											1	0	9.31168e-06	1	9.77726e-06	12	109				
FAM131A	131408	broad.mit.edu	37	3	184059850	184059850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:184059850C>T	uc003fog.2	+	1	1593	c.229C>T	c.(229-231)CCA>TCA	p.P77S	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	77						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTATCTCCAGGTATTTC	0.597		NaN											0	0	0	1	0	75	177				
MASP1	5648	broad.mit.edu	37	3	186947621	186947621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:186947621C>G	uc003frh.1	-	11	1700	c.1368G>C	c.(1366-1368)CAG>CAC	p.Q456H		NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	456	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGTGCCTTTCTGGGCTGGGC	0.597		NaN											0	0	0	1	0	11	38				
ATP13A5	344905	broad.mit.edu	37	3	193031929	193031929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:193031929G>A	uc011bsq.1	-	19	2212	c.2212C>T	c.(2212-2214)CCA>TCA	p.P738S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	738					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGCTGCCTGGAGGGATCATT	0.478		NaN											0	0	0	1	0	55	107				
MUC4	4585	broad.mit.edu	37	3	195516055	195516055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195516055G>T	uc011bto.1	-	2	2856	c.2396C>A	c.(2395-2397)TCA>TAA	p.S799*	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S681*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	804	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGCCCGCTGAGGTGGTTCG	0.587		NaN											1	0	2.32078e-09	1	2.5472e-09	12	123				
MUC4	4585	broad.mit.edu	37	3	195517505	195517505	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195517505G>C	uc011bto.1	-	2	1406	c.946C>G	c.(946-948)CAG>GAG	p.Q316E	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.Q198E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	321					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTGTCCTGAGTAGAAGTC	0.468		NaN											0	0	0	1	0	31	135				
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:2514856G>A	uc003gfb.2	+	7	757	c.421G>A	c.(421-423)GAG>AAG	p.E141K	RNF4_uc010icj.2_Silent_p.Q87Q|RNF4_uc003gfc.2_Missense_Mutation_p.E141K	NM_002938	NP_002929	P78317	RNF4_HUMAN	ring finger protein 4	141	RING-type.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458		NaN											0	0	0	1	0	13	230				
DOK7	285489	broad.mit.edu	37	4	3465126	3465126	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3465126G>A	uc003ghd.2	+	1	94	c.24G>A	c.(22-24)GAG>GAA	p.E8E	DOK7_uc003ghe.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	8	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCTGGTGGAGGGCCAGGTCA	0.378		NaN											0	0	0	1	0	2	3				
ADRA2C	152	broad.mit.edu	37	4	3768990	3768990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3768990C>T	uc003ghm.2	+	1	695	c.657C>T	c.(655-657)TTC>TTT	p.F219F	ADRA2C_uc010icx.2_Silent_p.F219F	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	219	Helical; Name=5; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGGCTCCTTCTTCGCGCCCT	0.697		NaN											0	0	0	1	0	5	5				
SORCS2	57537	broad.mit.edu	37	4	7194756	7194756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:7194756C>A	uc003gkb.3	+	1	383	c.383C>A	c.(382-384)TCG>TAG	p.S128*		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	128	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGAGTGGCTTCGCGGGCGCAG	0.741		NaN											1	0	6.4e-05	1	6.66446e-05	3	7				
GPR78	27201	broad.mit.edu	37	4	8583003	8583003	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:8583003G>A	uc003glk.2	+	1	713	c.294G>A	c.(292-294)GCG>GCA	p.A98A	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	98	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						TGAGCGTGGCGGCGCTGAGCG	0.716		NaN											0	0	0	1	0	7	8				
FGFBP2	83888	broad.mit.edu	37	4	15964632	15964632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:15964632C>T	uc003gon.2	-	1	228	c.121G>A	c.(121-123)GAT>AAT	p.D41N		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	41						extracellular space	growth factor binding				0						GTGCAGGAATCTCTCCCTCCA	0.582		NaN											0	0	0	1	0	15	38				
ARAP2	116984	broad.mit.edu	37	4	36122942	36122942	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:36122942C>G	uc003gsq.1	-	23	4091	c.3753G>C	c.(3751-3753)CAG>CAC	p.Q1251H		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1251	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTGAGCATTTCTGAACCCTGT	0.338		NaN											0	0	0	1	0	27	77				
TLR10	81793	broad.mit.edu	37	4	38776990	38776990	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:38776990C>G	uc003gti.2	-	2	601	c.222G>C	c.(220-222)CTG>CTC	p.L74L	TLR10_uc003gtj.2_Silent_p.L74L|TLR10_uc003gtk.2_Silent_p.L74L	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	74	LRR 3.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						TCAAAACTCTCAGTTTGGAGA	0.388		NaN											0	0	0	1	0	10	49				
KLB	152831	broad.mit.edu	37	4	39450291	39450291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:39450291G>C	uc003gua.2	+	5	3217	c.3120G>C	c.(3118-3120)AAG>AAC	p.K1040N	KLB_uc011byj.1_Missense_Mutation_p.K1031N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	1040	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						AGAAAGGCAAGAGAGTTGTTA	0.353		NaN											0	0	0	1	0	11	85				
N4BP2	55728	broad.mit.edu	37	4	40123716	40123716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40123716G>A	uc003guy.3	+	9	4323	c.3985G>A	c.(3985-3987)GAA>AAA	p.E1329K	N4BP2_uc010ifq.2_Missense_Mutation_p.E1249K|N4BP2_uc010ifr.2_Missense_Mutation_p.E1249K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1329						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						AGATGAAGAAGAATTTATGAA	0.289		NaN											0	0	0	1	0	30	63				
RBM47	54502	broad.mit.edu	37	4	40440385	40440385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40440385C>T	uc003gvc.2	-	4	1236	c.526G>A	c.(526-528)GAG>AAG	p.E176K	RBM47_uc003gvd.2_Missense_Mutation_p.E176K|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.E138K|RBM47_uc003gvg.1_Missense_Mutation_p.E176K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	176	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						AGCACGCCCTCGGTGACCTTG	0.637		NaN											0	0	0	1	0	24	89				
GABRB1	2560	broad.mit.edu	37	4	47163397	47163397	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:47163397G>A	uc003gxh.2	+	4	746	c.372G>A	c.(370-372)CTG>CTA	p.L124L	GABRB1_uc011bze.1_Silent_p.L54L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	124	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTACTTTCTGAATGACAAGA	0.443		NaN											0	0	0	1	0	31	116				
LRRC66	339977	broad.mit.edu	37	4	52861501	52861501	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:52861501G>T	uc003gzi.2	-	4	1700	c.1687C>A	c.(1687-1689)CAC>AAC	p.H563N		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	563						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GAGACAGCGTGAGACGTGCCA	0.483		NaN											1	0	2.79147e-13	1	3.15731e-13	52	120				
KIT	3815	broad.mit.edu	37	4	55570029	55570029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55570029C>T	uc010igr.2	+	5	983	c.896C>T	c.(895-897)GCA>GTA	p.A299V	KIT_uc010igs.2_Missense_Mutation_p.A299V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	299	Extracellular (Potential).|Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGGATCAGCAAATGTCACA	0.358		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				0	0	0	1	0	17	103				
KDR	3791	broad.mit.edu	37	4	55961025	55961025	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55961025G>A	uc003has.2	-	21	3217	c.2915C>T	c.(2914-2916)TCA>TTA	p.S972L	KDR_uc003hat.1_Missense_Mutation_p.S972L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	972	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGCTGGCTGAGCTCTGGCT	0.527		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	1	0	34	81				
KDR	3791	broad.mit.edu	37	4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55968171C>T	uc003has.2	-	15	2461	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	KDR_uc003hat.1_Missense_Mutation_p.R720Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	720	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGAGGTTCCGGTTCCCATC	0.438		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	1	0	18	95				
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:65147237G>A	uc003hcv.2	-	10	982	c.873C>T	c.(871-873)TTC>TTT	p.F291F	TECRL_uc010ihi.2_RNA	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	291					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						ACATCCATGTGAAGGGGTTAT	0.338		NaN											0	0	0	1	0	11	60				
UGT2B10	7365	broad.mit.edu	37	4	69885667	69885667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:69885667C>G	uc011cao.1	-	4	458	c.322G>C	c.(322-324)GAC>CAC	p.D108H	UGT2B10_uc011can.1_Missense_Mutation_p.D108H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	145					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AAAACGATGTCAAATCTTGAC	0.368		NaN											0	0	0	1	0	22	83				
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:70146759G>A	uc003hej.2	+	1	543	c.541G>A	c.(541-543)GAA>AAA	p.E181K	UGT2B28_uc010ihr.2_Missense_Mutation_p.E181K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	181					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTACACAATTGAAAGGCACAG	0.418		NaN											0	0	0	1	0	47	31				
ADAMTS3	9508	broad.mit.edu	37	4	73179451	73179451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:73179451C>G	uc003hgk.1	-	12	1725	c.1688G>C	c.(1687-1689)TGT>TCT	p.C563S	ADAMTS3_uc003hgl.2_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	563	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCCGAGAACAGGAGCCAAA	0.423		NaN											0	0	0	1	0	21	43				
SHROOM3	57619	broad.mit.edu	37	4	77660799	77660799	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77660799C>A	uc011cbx.1	+	5	2426	c.1473C>A	c.(1471-1473)CTC>CTA	p.L491L	SHROOM3_uc011cbz.1_Silent_p.L315L|SHROOM3_uc003hkf.1_Silent_p.L366L|SHROOM3_uc003hkg.2_Silent_p.L269L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	491					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			ACGGTATGCTCTACCCTGCAC	0.562		NaN											1	0	9.16793e-09	1	9.97547e-09	16	86				
SEPT11	55752	broad.mit.edu	37	4	77933056	77933056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77933056G>C	uc003hkj.2	+	4	669	c.507G>C	c.(505-507)ATG>ATC	p.M169I	SEPT11_uc010ijh.1_Missense_Mutation_p.M161I|SEPT11_uc011cca.1_Missense_Mutation_p.M179I|SEPT11_uc003hkk.1_5'Flank	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	169					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						TGGTCACCATGAAAAAGCTGG	0.433		NaN											0	0	0	1	0	12	74				
SEPT11	55752	broad.mit.edu	37	4	77941663	77941663	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77941663G>A	uc003hkj.2	+	7	955	c.793G>A	c.(793-795)GAA>AAA	p.E265K	SEPT11_uc010ijh.1_Missense_Mutation_p.E257K|SEPT11_uc011cca.1_Missense_Mutation_p.E275K|SEPT11_uc003hkk.1_Missense_Mutation_p.E65K	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						AGTTGAGAATGAAAATCATTG	0.458		NaN											0	0	0	1	0	13	93				
SEC31A	22872	broad.mit.edu	37	4	83788011	83788011	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:83788011G>A	uc003hnf.2	-	10	1311	c.1147C>T	c.(1147-1149)CTG>TTG	p.L383L	SEC31A_uc003hne.2_Silent_p.L155L|SEC31A_uc011ccl.1_Silent_p.L383L|SEC31A_uc003hnl.2_Silent_p.L383L|SEC31A_uc003hng.2_Silent_p.L383L|SEC31A_uc003hnh.2_Silent_p.L383L|SEC31A_uc003hni.2_Silent_p.L383L|SEC31A_uc003hnj.2_Silent_p.L383L|SEC31A_uc011ccm.1_Silent_p.L378L|SEC31A_uc011ccn.1_Silent_p.L383L|SEC31A_uc003hnk.2_Silent_p.L383L|SEC31A_uc003hnm.2_Silent_p.L383L|SEC31A_uc003hnn.1_Silent_p.L383L|SEC31A_uc003hno.2_Silent_p.L383L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	383	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GGCTTCTTCAGAGGCAGCACT	0.458		NaN											0	0	0	1	0	43	135				
CDS1	1040	broad.mit.edu	37	4	85556483	85556483	+	Missense_Mutation	SNP	T	T	G	rs141889582		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:85556483T>G	uc011ccv.1	+	8	1287	c.789T>G	c.(787-789)TTT>TTG	p.F263L	CDS1_uc010ike.1_Missense_Mutation_p.F67L	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	263					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.G264fs*7(2)		large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATTTTTTTTTGGGAGAACTC	0.318		NaN											0	0	0	1	0	15	85				
AFF1	4299	broad.mit.edu	37	4	88036295	88036295	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88036295G>A	uc003hqj.3	+	11	2696	c.2289G>A	c.(2287-2289)GTG>GTA	p.V763V	AFF1_uc011ccz.1_Silent_p.V770V|AFF1_uc003hqk.3_Silent_p.V763V|AFF1_uc011cda.1_Silent_p.V401V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	763						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTGATGGTGAAGATCACCC	0.592		NaN											0	0	0	1	0	15	61				
SPARCL1	8404	broad.mit.edu	37	4	88394928	88394928	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88394928C>G	uc010ikm.2	-	12	2566	c.1994G>C	c.(1993-1995)TGA>TCA	p.*665S	SPARCL1_uc011cdc.1_Nonstop_Mutation_p.*540S|SPARCL1_uc003hqs.3_Nonstop_Mutation_p.*665S|SPARCL1_uc011cdd.1_Nonstop_Mutation_p.*540S	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	665					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATCTTCGTTCAAAACAAGAG	0.323		NaN											0	0	0	1	0	15	93				
ADH1B	125	broad.mit.edu	37	4	100235088	100235088	+	Missense_Mutation	SNP	C	C	T	rs75973598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:100235088C>T	uc003hus.3	-	6	802	c.718G>A	c.(718-720)GAA>AAA	p.E240K	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E200K|ADH1B_uc011ceh.1_Missense_Mutation_p.E85K|ADH1B_uc011cei.1_Missense_Mutation_p.E200K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	240					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGATGCATTCAGTGGCACCC	0.468		NaN											0	0	0	1	0	77	427				
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:104640753G>A	uc003hxe.1	-	1	223	c.80C>T	c.(79-81)TCG>TTG	p.S27L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	27	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682		NaN											0	0	0	1	0	7	49				
TBCK	93627	broad.mit.edu	37	4	107165844	107165844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:107165844C>T	uc010ilv.2	-	11	1374	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	TBCK_uc003hyb.2_Missense_Mutation_p.E80K|TBCK_uc003hye.2_Missense_Mutation_p.E298K|TBCK_uc003hyc.2_Missense_Mutation_p.E274K|TBCK_uc003hyd.2_Missense_Mutation_p.E165K|TBCK_uc003hyf.2_Missense_Mutation_p.E337K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	337						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						AGCTCTTTCTCCAAGTCACCT	0.353		NaN											0	0	0	1	0	21	71				
KIAA1109	84162	broad.mit.edu	37	4	123118351	123118351	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:123118351G>C	uc003ieh.2	+	11	1255	c.1210G>C	c.(1210-1212)GAA>CAA	p.E404Q	KIAA1109_uc003iei.1_Missense_Mutation_p.E158Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	404					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTTTGGTAGGAAACAAATGC	0.249		NaN											0	0	0	1	0	16	49				
FAT4	79633	broad.mit.edu	37	4	126367492	126367492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:126367492C>T	uc003ifj.3	+	8	7238	c.7238C>T	c.(7237-7239)TCG>TTG	p.S2413L	FAT4_uc011cgp.1_Missense_Mutation_p.S711L|FAT4_uc003ifi.1_5'Flank	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2413	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATCAACCCATCGACAGGACAA	0.408		NaN											0	0	0	1	0	15	109				
PCDH18	54510	broad.mit.edu	37	4	138452282	138452282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:138452282C>T	uc003ihe.3	-	1	1348	c.961G>A	c.(961-963)GAG>AAG	p.E321K	PCDH18_uc003ihf.3_Missense_Mutation_p.E314K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E101K|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	321	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACATCAATCTCATAGGATTTG	0.343		NaN											0	0	0	1	0	10	58				
TBC1D9	23158	broad.mit.edu	37	4	141677148	141677148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:141677148C>T	uc010ioj.2	-	1	324	c.52G>A	c.(52-54)GAG>AAG	p.E18K		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	18						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGCCCTCTCGGTGATCCAC	0.701		NaN											0	0	0	1	0	5	12				
PRMT10	90826	broad.mit.edu	37	4	148575400	148575400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:148575400G>C	uc003ilc.2	-	9	1790	c.1648C>G	c.(1648-1650)CCA>GCA	p.P550A	PRMT10_uc003ilb.2_Missense_Mutation_p.P194A|PRMT10_uc003ild.2_Missense_Mutation_p.P437A	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	550						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						AGTTTCTCTGGAGTCAGTGAA	0.388		NaN											0	0	0	1	0	31	95				
FHDC1	85462	broad.mit.edu	37	4	153896615	153896615	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:153896615G>A	uc003inf.2	+	11	2247	c.2172G>A	c.(2170-2172)CTG>CTA	p.L724L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	724					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCAGCAGCCTGACACCCATGG	0.637		NaN											0	0	0	1	0	18	17				
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158074052G>A	uc003ipj.2	+	9	1289	c.1087G>A	c.(1087-1089)GAA>AAA	p.E363K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	363	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTTGAAGCTGAAAAAGCCAG	0.448		NaN											0	0	0	1	0	27	54				
GRIA2	2891	broad.mit.edu	37	4	158255240	158255240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158255240G>C	uc003ipm.3	+	9	1693	c.1234G>C	c.(1234-1236)GAG>CAG	p.E412Q	GRIA2_uc011cit.1_Missense_Mutation_p.E365Q|GRIA2_uc003ipl.3_Missense_Mutation_p.E412Q|GRIA2_uc003ipk.3_Missense_Mutation_p.E365Q|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	412	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCTGGGCTTGAGAATAAGAC	0.403		NaN											0	0	0	1	0	10	78				
FAM198B	51313	broad.mit.edu	37	4	159092464	159092464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:159092464G>A	uc003ipp.3	-	2	516	c.64C>T	c.(64-66)CGG>TGG	p.R22W	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22W|FAM198B_uc003ipr.3_Missense_Mutation_p.R22W|FAM198B_uc003ips.2_Missense_Mutation_p.R22W|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	22	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						TTACGCACCCGCGGGACGCAC	0.587		NaN											0	0	0	1	0	26	50				
GLRA3	8001	broad.mit.edu	37	4	175649820	175649820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:175649820C>G	uc003ity.1	-	4	800	c.297G>C	c.(295-297)CAG>CAC	p.Q99H	GLRA3_uc003itz.1_Missense_Mutation_p.Q99H	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	99	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTCCATTTCTGACGAAGAA	0.378		NaN											0	0	0	1	0	15	89				
WDR17	116966	broad.mit.edu	37	4	177098691	177098691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:177098691G>C	uc003iuj.2	+	30	3891	c.3735G>C	c.(3733-3735)AAG>AAC	p.K1245N	WDR17_uc003iuk.2_Missense_Mutation_p.K1221N|WDR17_uc003ium.3_Missense_Mutation_p.K1206N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K456N	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1245										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTATTAAAGAGACTAAAAG	0.328		NaN											0	0	0	1	0	16	92				
C4orf41	60684	broad.mit.edu	37	4	184605510	184605510	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:184605510G>A	uc003ivx.2	+	14	1595	c.1419G>A	c.(1417-1419)TTG>TTA	p.L473L	C4orf41_uc003ivw.2_Silent_p.L473L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L79L	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	473											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CCAAAGCTTTGAAGTGAGTCC	0.303		NaN											0	0	0	1	0	23	42				
TLR3	7098	broad.mit.edu	37	4	187005024	187005024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:187005024G>C	uc003iyq.2	+	4	2285	c.2184G>C	c.(2182-2184)TGG>TGC	p.W728C	TLR3_uc011ckz.1_Missense_Mutation_p.W451C|TLR3_uc003iyr.2_Missense_Mutation_p.W451C	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	728	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGAGGGCTGGAGGATATCTT	0.358		NaN											0	0	0	1	0	78	132				
KIAA0947	23379	broad.mit.edu	37	5	5462600	5462600	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:5462600G>A	uc003jdm.3	+	13	3375	c.3153G>A	c.(3151-3153)TTG>TTA	p.L1051L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1051										ovary(1)|central_nervous_system(1)	2						TTTGGAAATTGAAATCTACAA	0.463		NaN											0	0	0	1	0	40	140				
CDH10	1008	broad.mit.edu	37	5	24535867	24535867	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:24535867T>C	uc003jgr.1	-	4	923	c.591A>G	c.(589-591)AGA>AGG	p.R197R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	197	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAAATGACTCTGGCGCTGT	0.443		NaN								HNSCC(23;0.051)			0	0	0	1	0	9	86				
ADAMTS12	81792	broad.mit.edu	37	5	33662105	33662105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662105G>C	uc003jia.1	-	6	1119	c.956C>G	c.(955-957)TCT>TGT	p.S319C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S319C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	319	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCAGAAGCTAGACAGTGTCTT	0.488		NaN								HNSCC(64;0.19)			0	0	0	1	0	31	69				
ADAMTS12	81792	broad.mit.edu	37	5	33662118	33662118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662118C>T	uc003jia.1	-	6	1106	c.943G>A	c.(943-945)GAA>AAA	p.E315K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E315K	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	315	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGTGTCTTTTCTGCATGGTGA	0.473		NaN								HNSCC(64;0.19)			0	0	0	1	0	23	75				
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:34867123G>A	uc003jiu.2	+	7	892	c.789G>A	c.(787-789)CAG>CAA	p.Q263Q	TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263	Potential.						binding			central_nervous_system(1)	1						AAGCTGCTCAGATAGAGCAGC	0.547		NaN											0	0	0	1	0	5	18				
LMBRD2	92255	broad.mit.edu	37	5	36141289	36141289	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:36141289G>A	uc003jkb.1	-	4	703	c.288C>T	c.(286-288)TTC>TTT	p.F96F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	96	Extracellular (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCATGGCTTGAAACAAGGAT	0.333		NaN											0	0	0	1	0	11	65				
LIFR	3977	broad.mit.edu	37	5	38481806	38481806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:38481806G>A	uc010ive.1	-	20	3517	c.3185C>T	c.(3184-3186)TCC>TTC	p.S1062F	LIFR_uc003jli.2_Missense_Mutation_p.S1062F	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	1062	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GGAATTAATGGAGCATGGACT	0.403		NaN	T	PLAG1	salivary adenoma								0	0	0	1	0	20	203				
CCNB1	891	broad.mit.edu	37	5	68473423	68473423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:68473423G>C	uc003jvm.2	+	9	1444	c.1267G>C	c.(1267-1269)GTT>CTT	p.V423L	CCNB1_uc010ixb.2_Missense_Mutation_p.V386L	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	423					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTGCACTAGTTCAAGATTT	0.393		NaN											0	0	0	1	0	52	56				
MCCC2	64087	broad.mit.edu	37	5	70928012	70928012	+	Missense_Mutation	SNP	G	G	A	rs119103223		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:70928012G>A	uc003kbs.3	+	8	941	c.803G>A	c.(802-804)AGA>AAA	p.R268K	MCCC2_uc010iyv.1_Missense_Mutation_p.R268K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R137K	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	268	Carboxyltransferase.		R -> T (in MCC2 deficiency; asymptomatic form).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTCATTGCAGGTGAAACAGA	0.398		NaN											0	0	0	1	0	33	47				
HMGCR	3156	broad.mit.edu	37	5	74643117	74643117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:74643117G>A	uc003kdp.2	+	6	695	c.539G>A	c.(538-540)GGA>GAA	p.G180E	HMGCR_uc011cst.1_Missense_Mutation_p.G200E|HMGCR_uc003kdq.2_Missense_Mutation_p.G180E|HMGCR_uc010izn.1_Missense_Mutation_p.G20E	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	180	Helical; (Potential).				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTGATTGGAGTTGGTACC	0.353		NaN											0	0	0	1	0	79	84				
TBCA	6902	broad.mit.edu	37	5	76989151	76989151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:76989151C>A	uc003kfh.1	-	3	290	c.186G>T	c.(184-186)ATG>ATT	p.M62I	TBCA_uc003kfi.1_Missense_Mutation_p.M62I	NM_004607	NP_004598	O75347	TBCA_HUMAN	tubulin-specific chaperone a	62					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			ovary(1)	1		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTGGGATCATCATCCTGGATT	0.403		NaN											1	0	1.58986e-06	1	1.6848e-06	9	26				
ERAP2	64167	broad.mit.edu	37	5	96215522	96215522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:96215522C>T	uc003kmq.2	+	2	843	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.H45Y|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.H39Y|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	45	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCTAGTTATCACTTCACTGA	0.458		NaN											0	0	0	1	0	14	39				
HSPA4	3308	broad.mit.edu	37	5	132424172	132424172	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424172C>T	uc003kyj.2	+	9	1343	c.1062C>T	c.(1060-1062)ATC>ATT	p.I354I		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	354					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGAAGATCAGCAAATTTT	0.358		NaN											0	0	0	1	0	24	36				
HSPA4	3308	broad.mit.edu	37	5	132424226	132424226	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424226C>G	uc003kyj.2	+	9	1397	c.1116C>G	c.(1114-1116)GTC>GTG	p.V372V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	372					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGCTGTCACTCGAGGCT	0.368		NaN											0	0	0	1	0	33	44				
MYOT	9499	broad.mit.edu	37	5	137213275	137213275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137213275C>G	uc011cye.1	+	4	615	c.598C>G	c.(598-600)CAA>GAA	p.Q200E	MYOT_uc003lbv.2_Missense_Mutation_p.Q200E|MYOT_uc011cyg.1_Missense_Mutation_p.Q16E|MYOT_uc011cyh.1_Missense_Mutation_p.Q85E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	200					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGTGTTTCAAGCTCAGGA	0.388		NaN											0	0	0	1	0	13	50				
NME5	8382	broad.mit.edu	37	5	137474391	137474391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137474391C>T	uc003lce.2	-	2	157	c.79G>A	c.(79-81)GAG>AAG	p.E27K	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	27					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCCTCCTCTTTGTCAACA	0.378		NaN											0	0	0	1	0	18	30				
CDC25C	995	broad.mit.edu	37	5	137622209	137622209	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137622209G>A	uc003lcp.1	-	12	1408	c.1137C>T	c.(1135-1137)TTC>TTT	p.F379F	CDC25C_uc003lcq.1_Silent_p.F306F|CDC25C_uc003lcr.1_Silent_p.F379F|CDC25C_uc011cyp.1_Silent_p.F396F|CDC25C_uc003lcs.1_Silent_p.F457F	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	379	HIV-1 Vpr binding site.|Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGAGGAGAATTCACAGT	0.468		NaN											0	0	0	1	0	16	48				
PCDHB13	56123	broad.mit.edu	37	5	140594200	140594200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:140594200G>A	uc003lja.1	+	1	692	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	169	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAATATTGAGAACTATAT	0.478		NaN											0	0	0	1	0	37	53				
SH3RF2	153769	broad.mit.edu	37	5	145442003	145442003	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:145442003G>T	uc003lnt.2	+	10	2167	c.1929G>T	c.(1927-1929)GTG>GTT	p.V643V	SH3RF2_uc011dbl.1_Silent_p.V643V|SH3RF2_uc003lnu.2_Silent_p.V134V|SH3RF2_uc011dbn.1_Silent_p.V134V|SH3RF2_uc011dbo.1_Silent_p.V100V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	643	Interaction with PPP1CA.			V->G: Significant loss of interaction with PPP1CA. Significant loss of interaction with PPP1CA; when associated with G-645.			ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAAACCGTGAGATTTCAGA	0.522		NaN											1	0	1.10513e-12	1	1.24661e-12	22	113				
AFAP1L1	134265	broad.mit.edu	37	5	148687015	148687015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:148687015G>C	uc003lqh.2	+	7	717	c.586G>C	c.(586-588)GAG>CAG	p.E196Q	AFAP1L1_uc003lqg.3_Missense_Mutation_p.E196Q|AFAP1L1_uc010jgy.2_Missense_Mutation_p.E196Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	196	Poly-Glu.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGAAGAGGAGGAGGAAGG	0.587		NaN											0	0	0	1	0	15	86				
FAT2	2196	broad.mit.edu	37	5	150901233	150901233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:150901233C>T	uc003lue.3	-	18	10934	c.10921G>A	c.(10921-10923)GAG>AAG	p.E3641K	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E334K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3641	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGCTCCTCGGGGGTGAGC	0.607		NaN											0	0	0	1	0	8	35				
GEMIN5	25929	broad.mit.edu	37	5	154272068	154272068	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:154272068C>T	uc003lvx.3	-	25	3722	c.3639G>A	c.(3637-3639)CTG>CTA	p.L1213L	GEMIN5_uc011ddk.1_Silent_p.L1212L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1213					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587		NaN											0	0	0	1	0	9	40				
TIMD4	91937	broad.mit.edu	37	5	156375436	156375436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:156375436G>A	uc003lwh.2	-	5	892	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	279	Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAGGCTGAGGAGAAGAC	0.323		NaN											0	0	0	1	0	8	11				
DOCK2	1794	broad.mit.edu	37	5	169469046	169469046	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:169469046C>T	uc003maf.2	+	38	3866	c.3786C>T	c.(3784-3786)GTC>GTT	p.V1262V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V754V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1262	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACAGGTCATGCAGACAG	0.542		NaN											0	0	0	1	0	9	8				
CLTB	1212	broad.mit.edu	37	5	175843355	175843355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:175843355C>T	uc003meh.2	-	2	185	c.10G>A	c.(10-12)GAC>AAC	p.D4N	CLTB_uc003mei.2_Missense_Mutation_p.D4N|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	4					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGCCAAAGTCATCAGCCATT	0.741		NaN											0	0	0	1	0	6	15				
IRF4	3662	broad.mit.edu	37	6	401636	401636	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:401636G>C	uc003msz.3	+	7	1071	c.958G>C	c.(958-960)GCC>CCC	p.A320P	IRF4_uc010jne.1_Missense_Mutation_p.A320P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A319P|IRF4_uc003mtc.1_Missense_Mutation_p.A150P	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	320					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTCTGGATGGCCCCCGACGG	0.612		NaN	T	IGH@	MM 								0	0	0	1	0	7	19				
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:1313343C>T	uc003mtl.3	+	1	669	c.404C>T	c.(403-405)TCG>TTG	p.S135L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.592		NaN											0	0	0	1	0	10	20		Valid		
NRN1	51299	broad.mit.edu	37	6	5999356	5999356	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:5999356C>T	uc003mwu.2	-	3	933	c.282G>A	c.(280-282)CTG>CTA	p.L94L	NRN1_uc003mwt.2_Silent_p.L120L	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	94						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATTCTTTTCTCAGTTTATCCC	0.562		NaN											0	0	0	1	0	6	43				
ATXN1	6310	broad.mit.edu	37	6	16327637	16327637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:16327637G>A	uc003nbt.2	-	8	1876	c.905C>T	c.(904-906)CCT>CTT	p.P302L	ATXN1_uc010jpi.2_Missense_Mutation_p.P302L|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	302					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCCTCCCGAGGGACAAAGTG	0.657		NaN											0	0	0	1	0	8	48				
NUP153	9972	broad.mit.edu	37	6	17626341	17626341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17626341G>A	uc003ncd.1	-	19	3799	c.3599C>T	c.(3598-3600)TCA>TTA	p.S1200L	NUP153_uc011dje.1_Missense_Mutation_p.S1231L|NUP153_uc010jpl.1_Missense_Mutation_p.S1158L	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1200					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGGTGTACTTGAACTAGAGGA	0.418		NaN											0	0	0	1	0	20	29				
KIF13A	63971	broad.mit.edu	37	6	17790135	17790135	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17790135C>G	uc003ncg.3	-	26	3334	c.3229G>C	c.(3229-3231)GAT>CAT	p.D1077H	KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Missense_Mutation_p.D1077H|KIF13A_uc003nci.3_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1077					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATCCTCATCATCTCTCTGG	0.383		NaN											0	0	0	1	0	10	22				
KIF13A	63971	broad.mit.edu	37	6	17855761	17855761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17855761G>C	uc003ncg.3	-	6	506	c.401C>G	c.(400-402)TCT>TGT	p.S134C	KIF13A_uc003ncf.2_Missense_Mutation_p.S134C|KIF13A_uc003nch.3_Missense_Mutation_p.S134C|KIF13A_uc003nci.3_Missense_Mutation_p.S134C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	134	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTCCAAAGAGATCCTTTT	0.423		NaN											0	0	0	1	0	14	43				
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25466165G>A	uc011djw.1	+	9	1055	c.679G>A	c.(679-681)GAT>AAT	p.D227N	LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GTCCTCTAAGGATCTAAAACT	0.363		NaN											0	0	0	1	0	17	91				
SLC17A1	6568	broad.mit.edu	37	6	25811931	25811931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25811931G>C	uc003nfh.3	-	9	1081	c.965C>G	c.(964-966)TCA>TGA	p.S322*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	322					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						GAAGAAGTCTGATAACTGACC	0.448		NaN											0	0	0	1	0	22	65				
BTN1A1	696	broad.mit.edu	37	6	26508758	26508758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:26508758C>T	uc003nif.3	+	7	957	c.937C>T	c.(937-939)CAT>TAT	p.H313Y		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	313	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						AGACACAGCTCATCCCCACCT	0.463		NaN											0	0	0	1	0	98	191				
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:28264604G>C	uc003nky.2	+	5	1024	c.654G>C	c.(652-654)AAG>AAC	p.K218N	PGBD1_uc003nkz.2_Missense_Mutation_p.K218N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CATTGGTGAAGACTGAGGAAG	0.463		NaN											0	0	0	1	0	13	79				
PPP1R10	5514	broad.mit.edu	37	6	30576867	30576867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30576867C>T	uc003nqn.1	-	4	733	c.181G>A	c.(181-183)GAA>AAA	p.E61K	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	61	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						ACCAATATTTCTGGTGAACGG	0.483		NaN											0	0	0	1	0	14	56				
DHX16	8449	broad.mit.edu	37	6	30627868	30627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30627868C>T	uc003nqz.2	-	10	1908	c.1696G>A	c.(1696-1698)GAC>AAC	p.D566N	DHX16_uc003nqy.2_Missense_Mutation_p.D85N|DHX16_uc011dmo.1_Missense_Mutation_p.D506N	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	566	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						ACAGGGGCGTCATCAAAGAAG	0.542		NaN											0	0	0	1	0	20	69				
BAT2	7916	broad.mit.edu	37	6	31594883	31594883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:31594883G>A	uc003nvb.3	+	11	1447	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E400K	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	400	4 X 57 AA type A repeats.|2 X type B repeats.|2-1.					cytoplasm|nucleus	protein binding				0						TCGGCCTCCAGAGACAGAGCC	0.672		NaN											0	0	0	1	0	11	44				
TNXB	7148	broad.mit.edu	37	6	32036422	32036422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32036422G>A	uc003nzl.2	-	17	6167	c.5965C>T	c.(5965-5967)CGC>TGC	p.R1989C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2071	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCCCCCAGGCGAGGCTTGATG	0.622		NaN											0	0	0	1	0	16	51				
ATF6B	1388	broad.mit.edu	37	6	32094926	32094926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32094926G>A	uc003nzn.2	-	4	329	c.296C>T	c.(295-297)TCC>TTC	p.S99F	ATF6B_uc003nzo.2_Missense_Mutation_p.S96F|ATF6B_uc011dpg.1_Missense_Mutation_p.S33F|ATF6B_uc011dph.1_Missense_Mutation_p.S99F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	99	Cytoplasmic (Potential).|Poly-Ser.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGCTGAGGGAGGAGGAAGA	0.527		NaN											0	0	0	1	0	6	17				
PBX2	5089	broad.mit.edu	37	6	32154464	32154464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32154464C>T	uc003oav.1	-	8	1388	c.1117G>A	c.(1117-1119)GAA>AAA	p.E373K	AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	373							transcription factor binding			ovary(1)	1						CGGAGTGATTCCACCTGCAGG	0.552		NaN											0	0	0	1	0	15	38				
SYNGAP1	8831	broad.mit.edu	37	6	33411122	33411122	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:33411122C>T	uc011dri.1	+	15	2988	c.2793C>T	c.(2791-2793)CTC>CTT	p.L931L	SYNGAP1_uc010juy.2_Silent_p.L902L|SYNGAP1_uc010juz.2_Silent_p.L643L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	931					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						AGAACCCTCTCTTCCACATGG	0.582		NaN											0	0	0	1	0	37	210				
FTSJD2	23070	broad.mit.edu	37	6	37443108	37443108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:37443108G>C	uc003ons.2	+	19	2209	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	652					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAAGGCCCAGAGGAAGATCA	0.592		NaN											0	0	0	1	0	6	24				
TAF8	129685	broad.mit.edu	37	6	42019184	42019184	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:42019184G>A	uc003ors.2	+	2	164	c.135G>A	c.(133-135)CTG>CTA	p.L45L	CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Silent_p.L45L|TAF8_uc003ort.2_Silent_p.L45L|TAF8_uc003oru.1_Silent_p.L45L|TAF8_uc003orv.1_Silent_p.L45L|TAF8_uc011dun.1_5'UTR	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	45	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCCTTGCTGACAGAGGCAG	0.532		NaN											0	0	0	1	0	24	99				
CDC5L	988	broad.mit.edu	37	6	44374146	44374146	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44374146C>T	uc003oxl.2	+	7	1104	c.845C>T	c.(844-846)ACT>ATT	p.T282I		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	282	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTTCAAACTAGTGGTGTT	0.318		NaN											0	0	0	1	0	29	122				
TNFRSF21	27242	broad.mit.edu	37	6	47221041	47221041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47221041C>G	uc003oyv.2	-	4	1893	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	487	Cytoplasmic (Potential).|Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			AACATCGTTTCTCCGGTGCTG	0.617		NaN											0	0	0	1	0	4	18				
C6orf138	442213	broad.mit.edu	37	6	47846150	47846150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47846150G>T	uc011dwm.1	-	3	2464	c.2379C>A	c.(2377-2379)TTC>TTA	p.F793L	C6orf138_uc011dwn.1_Missense_Mutation_p.F557L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	810						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TGGAAGGGGGGAAAAACGTTA	0.448		NaN											1	0	3.99206e-14	1	4.52745e-14	19	74				
IL17A	3605	broad.mit.edu	37	6	52052468	52052468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:52052468G>A	uc003pak.1	+	2	140	c.95G>A	c.(94-96)GGA>GAA	p.G32E		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	32					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)					CGAAATCCAGGATGCCCAAAT	0.493		NaN											0	0	0	1	0	95	146				
LRRC1	55227	broad.mit.edu	37	6	53761655	53761655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:53761655G>A	uc003pcd.1	+	6	809	c.532G>A	c.(532-534)GAA>AAA	p.E178K		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	178	LRR 8.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGACTAGAAGAACTTGATTT	0.313		NaN											0	0	0	1	0	14	44				
HCRTR2	3062	broad.mit.edu	37	6	55142257	55142257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:55142257C>T	uc003pcl.2	+	5	1157	c.842C>T	c.(841-843)CCA>CTA	p.P281L	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	281	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGACAGCCAACGAAGTCC	0.517		NaN											0	0	0	1	0	9	37				
DST	667	broad.mit.edu	37	6	56458793	56458793	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:56458793G>A	uc003pdf.2	-	42	6065	c.6037C>T	c.(6037-6039)CTG>TTG	p.L2013L	DST_uc003pcz.3_Silent_p.L1835L|DST_uc011dxj.1_Silent_p.L1864L|DST_uc011dxk.1_Silent_p.L1875L|DST_uc003pcy.3_Silent_p.L1509L|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3921					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413		NaN											0	0	0	1	0	9	51				
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:62390905C>G	uc003peg.2	-	9	1260	c.1013G>C	c.(1012-1014)AGA>ACA	p.R338T		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTATCCCCCTCTGGCTGACCT	0.493		NaN											0	0	0	1	0	6	35				
CD109	135228	broad.mit.edu	37	6	74490221	74490221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:74490221G>C	uc003php.2	+	16	2327	c.1902G>C	c.(1900-1902)CAG>CAC	p.Q634H	CD109_uc010kaz.2_Missense_Mutation_p.Q634H|CD109_uc003phq.2_Missense_Mutation_p.Q634H|CD109_uc010kba.2_Missense_Mutation_p.Q557H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	634	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						CAGTCTTTCAGGTATGTTTTG	0.294		NaN											0	0	0	1	0	14	102				
SENP6	26054	broad.mit.edu	37	6	76412689	76412689	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:76412689G>C	uc003pid.3	+	19	3236	c.2617G>C	c.(2617-2619)GAA>CAA	p.E873Q	SENP6_uc003pie.3_Missense_Mutation_p.E866Q|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	873	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				TGAAAATGAAGAATTCAATAA	0.368		NaN											0	0	0	1	0	46	153				
DOPEY1	23033	broad.mit.edu	37	6	83839159	83839159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:83839159C>G	uc003pjs.1	+	16	2533	c.2273C>G	c.(2272-2274)TCA>TGA	p.S758*	DOPEY1_uc011dyy.1_Nonsense_Mutation_p.S749*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.S749*	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	758					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTAGAGTGCTCAAGTTTCCCA	0.393		NaN											0	0	0	1	0	35	57				
UBE2J1	51465	broad.mit.edu	37	6	90052151	90052151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:90052151G>T	uc010kcb.2	-	4	302	c.129C>A	c.(127-129)TTC>TTA	p.F43L	UBE2J1_uc003pnc.2_Missense_Mutation_p.F43L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	43	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTCTAACCGTGAAGTGCCATT	0.378		NaN											1	0	5.50884e-06	1	5.79878e-06	12	39				
KLHL32	114792	broad.mit.edu	37	6	97489422	97489422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:97489422G>A	uc010kcm.1	+	4	731	c.259G>A	c.(259-261)GGT>AGT	p.G87S	KLHL32_uc003poy.2_Missense_Mutation_p.G87S|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	87	BTB.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAATTTGCACGGTGTGACCAG	0.428		NaN											0	0	0	1	0	10	91				
GRIK2	2898	broad.mit.edu	37	6	102503216	102503216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:102503216C>G	uc003pqp.3	+	15	2572	c.2323C>G	c.(2323-2325)CGA>GGA	p.R775G	GRIK2_uc003pqo.3_Missense_Mutation_p.R775G|GRIK2_uc010kcw.2_Missense_Mutation_p.R775G	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	775	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTCTCCATATCGAGACAAAAT	0.408		NaN											0	0	0	1	0	15	56				
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:109769984C>A	uc003ptj.2	-	11	1869	c.1615G>T	c.(1615-1617)GAT>TAT	p.D539Y	MICAL1_uc003ptk.2_Missense_Mutation_p.D539Y|MICAL1_uc010kdr.2_Missense_Mutation_p.D453Y|MICAL1_uc011eaq.1_Missense_Mutation_p.D558Y	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	539	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622		NaN											1	0	8.53417e-09	1	9.31001e-09	35	140				
ECT2L	345930	broad.mit.edu	37	6	139183796	139183796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:139183796C>G	uc003qif.1	+	9	1334	c.1231C>G	c.(1231-1233)CAA>GAA	p.Q411E	ECT2L_uc011edq.1_Missense_Mutation_p.Q342E	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	411					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						CCAGCTGTCTCAACTAACTGG	0.438		NaN											0	0	0	1	0	9	65				
SASH1	23328	broad.mit.edu	37	6	148848652	148848652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:148848652C>G	uc003qme.1	+	12	1823	c.1348C>G	c.(1348-1350)CTT>GTT	p.L450V	SASH1_uc011eeb.1_Missense_Mutation_p.L211V|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	450							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCGCATCTCTCTTGGGAAAAA	0.418		NaN											0	0	0	1	0	21	73				
MTHFD1L	25902	broad.mit.edu	37	6	151270192	151270192	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:151270192C>T	uc003qob.2	+	16	1917	c.1649C>T	c.(1648-1650)CCG>CTG	p.P550L	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P551L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P498L	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	550	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AAGACTGATCCGAGCACACTG	0.453		NaN											0	0	0	1	0	15	17				
SYNE1	23345	broad.mit.edu	37	6	152642938	152642938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152642938G>A	uc010kiw.2	-	83	16603	c.16001C>T	c.(16000-16002)TCT>TTT	p.S5334F	SYNE1_uc003qot.3_Missense_Mutation_p.S5263F|SYNE1_uc003qou.3_Missense_Mutation_p.S5334F|SYNE1_uc010kiz.2_Missense_Mutation_p.S1089F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5334	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATTTCACAGAATTGATCTG	0.398		NaN								HNSCC(10;0.0054)			0	0	0	1	0	24	77				
SYNE1	23345	broad.mit.edu	37	6	152719867	152719867	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152719867C>G	uc010kiw.2	-	49	7840	c.7238_splice	c.e49-1	p.E2413_splice	SYNE1_uc003qot.3_Splice_Site_p.E2420_splice|SYNE1_uc003qou.3_Splice_Site_p.E2413_splice|SYNE1_uc010kjb.1_Splice_Site_p.E2396_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCATAGACTCTTTTGAAAGa	0.368		NaN								HNSCC(10;0.0054)			0	0	0	1	0	17	54				
ARID1B	57492	broad.mit.edu	37	6	157528459	157528459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:157528459G>T	uc003qqn.2	+	20	6282	c.6130G>T	c.(6130-6132)GAG>TAG	p.E2044*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.E2004*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.E1991*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2049					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCGTCTGCAGAGGCACAAGA	0.532		NaN											1	0	8.69298e-16	1	9.90339e-16	42	110		Valid		
IGF2R	3482	broad.mit.edu	37	6	160525708	160525708	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:160525708G>A	uc003qta.2	+	48	7216	c.7068G>A	c.(7066-7068)GTG>GTA	p.V2356V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2356	Cytoplasmic (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCTGGCAGGTGAATAAGGAAG	0.567		NaN											0	0	0	1	0	8	36				
RPS6KA2	6196	broad.mit.edu	37	6	166864689	166864689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864689G>A	uc003qvb.1	-	13	1327	c.1108C>T	c.(1108-1110)CAT>TAT	p.H370Y	RPS6KA2_uc011ego.1_Missense_Mutation_p.H281Y|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H281Y|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H378Y|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H395Y	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	370	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		AACAGGTGATGAGCGTTTGCA	0.547		NaN											0	0	0	1	0	21	39				
RPS6KA2	6196	broad.mit.edu	37	6	166864716	166864716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864716G>T	uc003qvb.1	-	13	1300	c.1081C>A	c.(1081-1083)CCT>ACT	p.P361T	RPS6KA2_uc011ego.1_Missense_Mutation_p.P272T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.P272T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.P369T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.P386T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	361	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGGACGCCAGGAGAGTCTGTA	0.473		NaN											1	0	3.32936e-07	1	3.55508e-07	17	40				
TTYH3	80727	broad.mit.edu	37	7	2686589	2686589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:2686589G>A	uc003smp.2	+	2	413	c.226G>A	c.(226-228)GAG>AAG	p.E76K	TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	76	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGCAAGAGCGAGGAGCACCT	0.582		NaN											0	0	0	1	0	4	10				
RBAK	57786	broad.mit.edu	37	7	5105215	5105215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5105215G>C	uc010kss.1	+	6	2452	c.2128G>C	c.(2128-2130)GAT>CAT	p.D710H	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.D710H	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	710	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAACGTACTTGATGTGGAAAA	0.368		NaN											0	0	0	1	0	15	86				
TNRC18	84629	broad.mit.edu	37	7	5352267	5352267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5352267C>G	uc003soi.3	-	27	8604	c.8255G>C	c.(8254-8256)AGA>ACA	p.R2752T		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2752							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACGCCCTCTCTCTTCTTGGG	0.716		NaN											0	0	0	1	0	14	67				
FBXL18	80028	broad.mit.edu	37	7	5540603	5540603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5540603C>T	uc003soo.2	-	3	1391	c.1297G>A	c.(1297-1299)GAC>AAC	p.D433N	FBXL18_uc003son.3_Missense_Mutation_p.D433N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	433										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ggcgcgcggtcggcgcgcggc	0.562		NaN											0	0	0	1	0	5	11				
AGR2	10551	broad.mit.edu	37	7	16841376	16841376	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:16841376G>C	uc003str.2	-	2	232	c.45C>G	c.(43-45)CTC>CTG	p.L15L	AGR2_uc011jxy.1_Silent_p.L15L	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	15					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGTGTAGGAGAGGGCCACAA	0.478		NaN											0	0	0	1	0	14	80				
AHR	196	broad.mit.edu	37	7	17373647	17373647	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:17373647C>A	uc011jxz.1	+	7	1430	c.817C>A	c.(817-819)CAG>AAG	p.Q273K	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	273					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TACTCCACTTCAGCCACCATC	0.403		NaN											1	0	3.76869e-24	1	4.34849e-24	20	94				
HDAC9	9734	broad.mit.edu	37	7	18801875	18801875	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:18801875G>T	uc003suh.2	+	14	2171	c.2130G>T	c.(2128-2130)CAG>CAT	p.Q710H	HDAC9_uc003sue.2_Missense_Mutation_p.Q710H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q710H|HDAC9_uc003sui.2_Missense_Mutation_p.Q713H|HDAC9_uc003suj.2_Missense_Mutation_p.Q669H|HDAC9_uc003sua.1_Missense_Mutation_p.Q688H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	710	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGACGGACAGAAGCTGGACC	0.512		NaN											1	0	5.9392e-07	1	6.33113e-07	5	30				
OSBPL3	26031	broad.mit.edu	37	7	24849449	24849449	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:24849449G>A	uc003sxf.2	-	20	2699	c.2294C>T	c.(2293-2295)TCT>TTT	p.S765F	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.S729F|OSBPL3_uc003sxh.2_Missense_Mutation_p.S734F|OSBPL3_uc003sxi.2_Missense_Mutation_p.S698F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	765					lipid transport		lipid binding|protein binding			skin(1)	1						ACAGGCAGAAGAGGAGCCGCC	0.547		NaN											0	0	0	1	0	29	55				
SNX10	29887	broad.mit.edu	37	7	26412157	26412157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:26412157G>A	uc003sxx.2	+	7	786	c.571G>A	c.(571-573)GGA>AGA	p.G191R	SNX10_uc011jzg.1_Missense_Mutation_p.G214R|SNX10_uc010kuu.2_Missense_Mutation_p.G191R|SNX10_uc010kuv.2_Missense_Mutation_p.G187R|SNX10_uc010kuw.2_Missense_Mutation_p.G107R	NM_013322	NP_037454	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	191					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding				0						CAGTTCACATGGATGTAAAGT	0.373		NaN											0	0	0	1	0	25	162				
EVX1	2128	broad.mit.edu	37	7	27284678	27284678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27284678G>A	uc003szd.1	+	2	925	c.439G>A	c.(439-441)GAG>AAG	p.E147K	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P128P	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTCCGGCTCCGAGGCGCTGGT	0.672		NaN											0	0	0	1	0	19	64				
TAX1BP1	8887	broad.mit.edu	37	7	27831832	27831832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27831832G>A	uc003szl.2	+	9	1404	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A416T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A416T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A259T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	416	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			TAAACTAAATGCTATGAAAAA	0.353		NaN											0	0	0	1	0	7	24				
PLEKHA8	84725	broad.mit.edu	37	7	30087570	30087570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:30087570G>A	uc003tam.1	+	4	527	c.436G>A	c.(436-438)GAG>AAG	p.E146K	PLEKHA8_uc003tao.2_Missense_Mutation_p.E30K|PLEKHA8_uc003tap.1_Missense_Mutation_p.E146K|PLEKHA8_uc003tan.2_Missense_Mutation_p.E146K	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	146					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GTCCAATTCTGAGGtaaaata	0.274		NaN											0	0	0	1	0	14	40				
NT5C3	51251	broad.mit.edu	37	7	33057059	33057059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:33057059C>T	uc003tdk.2	-	7	777	c.700G>A	c.(700-702)GAT>AAT	p.D234N	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.D195N|NT5C3_uc003tdj.2_Missense_Mutation_p.D195N	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	234					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ACAGTTTCATCAAAATCCATA	0.254		NaN											0	0	0	1	0	13	50				
POLM	27434	broad.mit.edu	37	7	44119254	44119254	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44119254G>C	uc003tjt.2	-	4	650	c.558C>G	c.(556-558)CTC>CTG	p.L186L	POLM_uc003tju.2_Silent_p.L186L|POLM_uc003tjx.2_Silent_p.L186L|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Silent_p.L186L|POLM_uc011kbu.1_Silent_p.L153L|POLM_uc010kxy.2_Silent_p.L186L	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	186					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GAAGGGCCTTGAGCACCGAGG	0.627		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	14	79				
NPC1L1	29881	broad.mit.edu	37	7	44561680	44561680	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44561680C>T	uc003tlb.2	-	11	2855	c.2799G>A	c.(2797-2799)AAG>AAA	p.K933K	NPC1L1_uc003tlc.2_Silent_p.K933K|NPC1L1_uc011kbw.1_Silent_p.K887K|NPC1L1_uc003tla.2_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	933	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CATACTGGATCTTCTGGGTGA	0.562		NaN											0	0	0	1	0	9	56				
ZPBP	11055	broad.mit.edu	37	7	50070753	50070753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:50070753G>C	uc003tou.2	-	5	711	c.641C>G	c.(640-642)TCT>TGT	p.S214C	ZPBP_uc011kci.1_Missense_Mutation_p.S140C|ZPBP_uc010kyw.2_Missense_Mutation_p.S213C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	214					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					ATGGCATTCAGACTTAAGTAA	0.328		NaN											0	0	0	1	0	10	85				
COBL	23242	broad.mit.edu	37	7	51092923	51092923	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:51092923G>C	uc003tpr.3	-	12	3836	c.3651C>G	c.(3649-3651)CTC>CTG	p.L1217L	COBL_uc003tps.2_Silent_p.L1227L|COBL_uc011kcl.1_Silent_p.L1170L|COBL_uc003tpp.3_Silent_p.L1003L|COBL_uc003tpq.3_Silent_p.L1111L|COBL_uc003tpo.3_Silent_p.L759L	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1217										skin(3)|ovary(2)	5	Glioma(55;0.08)					TTGGTGCAGAGAGAGCCTGGG	0.642		NaN											0	0	0	1	0	11	34				
SBDS	51119	broad.mit.edu	37	7	66459252	66459252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:66459252C>T	uc003tvm.1	-	2	389	c.205G>A	c.(205-207)GAA>AAA	p.E69K	TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	69					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						ATGAGATCTTCCTTTTTGGCA	0.438		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	1	0	21	201				
POM121	9883	broad.mit.edu	37	7	72414059	72414059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:72414059G>C	uc003twk.2	+	11	3527	c.3527G>C	c.(3526-3528)GGA>GCA	p.G1176A	POM121_uc003twj.2_Missense_Mutation_p.G911A|POM121_uc010lam.1_Missense_Mutation_p.G911A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1176	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CCTGTGTTTGGAGGTAAGGAG	0.488		NaN											0	0	0	1	0	5	20				
CROT	54677	broad.mit.edu	37	7	87006664	87006664	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87006664G>A	uc003uit.2	+	10	1122	c.877_splice	c.e10-1	p.I293_splice	CROT_uc003uiu.2_Splice_Site_p.I321_splice	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTTATTTTAGATTATTGCAG	0.323		NaN											0	0	0	1	0	9	19				
DBF4	10926	broad.mit.edu	37	7	87536669	87536669	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87536669G>C	uc003ujf.1	+	12	1720	c.1216G>C	c.(1216-1218)GAA>CAA	p.E406Q	DBF4_uc003ujh.1_Missense_Mutation_p.E146Q|DBF4_uc003ujg.1_Missense_Mutation_p.E182Q|DBF4_uc011khf.1_Missense_Mutation_p.E173Q	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	406					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCT	0.383		NaN											0	0	0	1	0	12	84				
MTERF	7978	broad.mit.edu	37	7	91503796	91503796	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:91503796C>T	uc003ulb.1	-	2	356	c.312G>A	c.(310-312)GAG>GAA	p.E104E	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.E104E|MTERF_uc011khm.1_Silent_p.E84E|MTERF_uc010leu.1_Silent_p.E84E	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	104					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCAGGTCCTGCTCATTGGTAA	0.418		NaN											0	0	0	1	0	24	119				
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99332708G>C	uc003uru.2	-	1	114	c.9C>G	c.(7-9)CTC>CTG	p.L3L	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_5'UTR|CYP3A5_uc010lgg.2_Silent_p.L3L	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	3					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTTTGGGATGAGATCCATCA	0.507		NaN											0	0	0	1	0	11	63				
AP4M1	9179	broad.mit.edu	37	7	99704109	99704109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99704109G>A	uc003utb.3	+	14	1317	c.1109G>A	c.(1108-1110)GGA>GAA	p.G370E	AP4M1_uc010lgl.1_Missense_Mutation_p.G345E|AP4M1_uc003utc.3_Missense_Mutation_p.G377E|AP4M1_uc010lgm.2_Missense_Mutation_p.G242E|AP4M1_uc003utd.2_Missense_Mutation_p.G370E|AP4M1_uc011kjh.1_Missense_Mutation_p.G322E|AP4M1_uc003ute.3_Missense_Mutation_p.G145E|AP4M1_uc003utf.3_Missense_Mutation_p.G242E	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	370	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGGTGCAAGGAGGCTCTCAA	0.632		NaN											0	0	0	1	0	4	27				
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99755503G>A	uc003utr.2	-	2	650	c.470C>T	c.(469-471)TCA>TTA	p.S157L	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	157											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537		NaN											0	0	0	1	0	22	37				
MUC17	140453	broad.mit.edu	37	7	100684352	100684352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684352G>A	uc003uxp.1	+	3	9708	c.9655G>A	c.(9655-9657)GAA>AAA	p.E3219K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3219	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAATGAC	0.498		NaN											0	0	0	1	0	93	430				
MUC17	140453	broad.mit.edu	37	7	100684883	100684883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684883G>T	uc003uxp.1	+	3	10239	c.10186G>T	c.(10186-10188)GAA>TAA	p.E3396*	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3396	Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTCCTAGTGAAGGAACCAC	0.498		NaN											1	0	2.63401e-43	1	3.0645e-43	98	436				
SERPINE1	5054	broad.mit.edu	37	7	100771918	100771918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100771918C>T	uc003uxt.2	+	2	392	c.244C>T	c.(244-246)CAA>TAA	p.Q82*	SERPINE1_uc011kkj.1_Nonsense_Mutation_p.Q67*|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	82					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCAGCAGATTCAAGCAGCTAT	0.577		NaN											0	0	0	1	0	8	57				
PMPCB	9512	broad.mit.edu	37	7	102944862	102944862	+	Missense_Mutation	SNP	A	A	G	rs149104855	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:102944862A>G	uc003vbl.2	+	6	695	c.661A>G	c.(661-663)ATA>GTA	p.I221V	PMPCB_uc010liu.1_Missense_Mutation_p.I221V|PMPCB_uc003vbk.1_Missense_Mutation_p.I221V|PMPCB_uc003vbm.2_Missense_Mutation_p.I130V|PMPCB_uc010liv.2_Missense_Mutation_p.I127V|PMPCB_uc010liw.2_Missense_Mutation_p.I130V|PMPCB_uc011kll.1_Missense_Mutation_p.I116V|PMPCB_uc011klm.1_Missense_Mutation_p.I96V	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	221					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						TTACAGATCTATAAGTCGTAA	0.318		NaN											0	0	0	1	0	18	49				
LAMB1	3912	broad.mit.edu	37	7	107638920	107638920	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:107638920G>T	uc003vew.2	-	4	566	c.231C>A	c.(229-231)TTC>TTA	p.F77L	LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	77	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGCATATGAAGCATTTTT	0.363		NaN											1	0	0.000673444	1	0.000690993	10	70				
DOCK4	9732	broad.mit.edu	37	7	111400253	111400253	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:111400253G>A	uc003vfx.2	-	39	4388	c.4119C>T	c.(4117-4119)TTC>TTT	p.F1373F	DOCK4_uc011kml.1_Silent_p.F254F|DOCK4_uc011kmm.1_Silent_p.F280F|DOCK4_uc003vfw.2_Silent_p.F823F|DOCK4_uc003vfy.2_Silent_p.F1418F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1373	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGCCTGGAAGATGGTCT	0.547		NaN											0	0	0	1	0	23	113				
PTPRZ1	5803	broad.mit.edu	37	7	121513587	121513587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:121513587C>G	uc003vjy.2	+	1	429	c.34C>G	c.(34-36)CAG>GAG	p.Q12E	PTPRZ1_uc003vjz.2_Missense_Mutation_p.Q12E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	12					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CGCTTGCATTCAGCTCCTCTG	0.617		NaN											0	0	0	1	0	9	24				
SND1	27044	broad.mit.edu	37	7	127544799	127544799	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:127544799G>A	uc003vmi.2	+	14	1681	c.1455_splice	c.e14-1	p.R485_splice	SND1_uc010lle.2_Splice_Site_p.R138_splice	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1						gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TTCCTTAACAGAGCTATTAAG	0.443		NaN											0	0	0	1	0	9	41				
CCDC136	64753	broad.mit.edu	37	7	128452893	128452893	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:128452893G>A	uc003vnv.1	+	14	3040	c.2673G>A	c.(2671-2673)CTG>CTA	p.L891L	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.L707L|CCDC136_uc010llq.1_Silent_p.L260L|CCDC136_uc003vny.1_Silent_p.L501L	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	891	Potential.					integral to membrane	protein binding			ovary(2)	2						AGAAAGACCTGAAGGAAGAGC	0.532		NaN											0	0	0	1	0	9	13				
MEST	4232	broad.mit.edu	37	7	130138063	130138063	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:130138063C>A	uc003vqg.2	+	5	640	c.423C>A	c.(421-423)ATC>ATA	p.I141I	MEST_uc003vqc.2_Silent_p.I132I|MEST_uc003vqd.2_Silent_p.I132I|MEST_uc003vqf.2_Silent_p.I132I|MEST_uc011kph.1_Silent_p.I127I|MEST_uc010lmg.2_Silent_p.I141I	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	141					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					ACCGCAGGATCAACCTTCTTT	0.483		NaN											1	0	5.03518e-11	1	5.60453e-11	19	73				
PLXNA4	91584	broad.mit.edu	37	7	131825454	131825454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:131825454G>A	uc003vra.3	-	30	5571	c.5342C>T	c.(5341-5343)TCT>TTT	p.S1781F	PLXNA4_uc003vqz.3_Missense_Mutation_p.S66F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1781	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CGTGGAGCAAGAGTCCATGAA	0.542		NaN											0	0	0	1	0	16	80				
EXOC4	60412	broad.mit.edu	37	7	132937919	132937919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:132937919C>A	uc003vrk.2	+	1	97	c.62C>A	c.(61-63)TCG>TAG	p.S21*	EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Nonsense_Mutation_p.S21*|EXOC4_uc003vrj.2_Nonsense_Mutation_p.S21*	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	21					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AAAGACCCCTCGGGGCTGCTC	0.617		NaN											1	0	2.27111e-07	1	2.43748e-07	12	60				
CALD1	800	broad.mit.edu	37	7	134618457	134618457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:134618457G>A	uc003vrz.2	+	5	1396	c.937G>A	c.(937-939)GAG>AAG	p.E313K	CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Missense_Mutation_p.E177K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	313					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						agaggcagaagagagggaaag	0.179		NaN											0	0	0	1	0	4	2				
ATP6V0A4	50617	broad.mit.edu	37	7	138437408	138437408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:138437408C>T	uc003vuf.2	-	10	1229	c.991G>A	c.(991-993)GAT>AAT	p.D331N	ATP6V0A4_uc003vug.2_Missense_Mutation_p.D331N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D331N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	331	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CGTGTGGCATCTGCCACCGGG	0.587		NaN											0	0	0	1	0	7	29				
ADCK2	90956	broad.mit.edu	37	7	140374519	140374519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:140374519G>A	uc003vvy.1	+	2	1220	c.1042G>A	c.(1042-1044)GAG>AAG	p.E348K	ADCK2_uc003vvz.2_Missense_Mutation_p.E348K	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	348	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TAGCTTGCCTGAGATTGTGGA	0.522		NaN											0	0	0	1	0	9	28				
MGAM	8972	broad.mit.edu	37	7	141731552	141731552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:141731552G>C	uc003vwy.2	+	13	1597	c.1543G>C	c.(1543-1545)GAG>CAG	p.E515Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	515	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGGAATTTGAGCTTTTTCA	0.368		NaN											0	0	0	1	0	16	82				
FAM131B	9715	broad.mit.edu	37	7	143053718	143053718	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143053718G>C	uc003wct.2	-	6	2630	c.924C>G	c.(922-924)CTC>CTG	p.L308L	FAM131B_uc010loz.2_Silent_p.L276L|FAM131B_uc003wcu.3_Silent_p.L308L|FAM131B_uc010lpa.2_Silent_p.L336L	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	308											0	Melanoma(164;0.205)					CCTTCCGGCTGAGAGCGGTAG	0.582		NaN											0	0	0	1	0	33	143				
OR2A2	442361	broad.mit.edu	37	7	143806767	143806767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143806767C>T	uc011ktz.1	+	1	92	c.92C>T	c.(91-93)TCT>TTT	p.S31F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GGACTCTTCTCTGTCTTCTAT	0.517		NaN											0	0	0	1	0	19	126				
ARHGEF35	445328	broad.mit.edu	37	7	143884109	143884109	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143884109G>A	uc003wdz.1	-	2	1486	c.1368C>T	c.(1366-1368)ATC>ATT	p.I456I		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	456											0						GAGAGCATCTGATGGGCTCTA	0.488		NaN											0	0	0	1	0	8	30				
GIMAP2	26157	broad.mit.edu	37	7	150389979	150389979	+	Missense_Mutation	SNP	T	T	C	rs138926685		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150389979T>C	uc003who.2	+	3	693	c.605T>C	c.(604-606)ATT>ACT	p.I202T	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	202						integral to membrane	GTP binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGACTGTATTGAGGATCTG	0.458		NaN											0	0	0	1	0	59	88				
KCNH2	3757	broad.mit.edu	37	7	150649798	150649798	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150649798G>A	uc003wic.2	-	6	1285	c.1272C>T	c.(1270-1272)TTC>TTT	p.F424F	KCNH2_uc003wib.2_Silent_p.F84F|KCNH2_uc011kux.1_Silent_p.F328F|KCNH2_uc003wid.2_Silent_p.F84F|KCNH2_uc003wie.2_Silent_p.F424F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	424	Helical; Name=Segment S1; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTAGGGTGTGAAGACAGCCG	0.632		NaN											0	0	0	1	0	17	93				
NOS3	4846	broad.mit.edu	37	7	150709517	150709517	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150709517C>T	uc003wif.2	+	24	3359	c.3063C>T	c.(3061-3063)TTC>TTT	p.F1021F	NOS3_uc011kuy.1_Silent_p.F815F|ATG9B_uc003wig.3_RNA|ATG9B_uc011kvc.1_3'UTR	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1021	NADP (By similarity).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTGCCCCCTTCCGGGGATTCT	0.617		NaN											0	0	0	1	0	7	6				
INSIG1	3638	broad.mit.edu	37	7	155090019	155090019	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:155090019C>T	uc003wly.2	+	2	235	c.24C>T	c.(22-24)TTC>TTT	p.F8F	INSIG1_uc011kvu.1_Silent_p.F8F|INSIG1_uc003wlz.2_Silent_p.F8F	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	8	Cytoplasmic.				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGACCACTTCTGGAGCTGCT	0.642		NaN											0	0	0	1	0	5	11				
WDR60	55112	broad.mit.edu	37	7	158663899	158663899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:158663899G>A	uc003woe.3	+	3	294	c.136G>A	c.(136-138)GAG>AAG	p.E46K		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	46										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGGAGTCTGAGATGGACCT	0.547		NaN											0	0	0	1	0	8	18				
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:12946138G>A	uc003wwm.2	-	16	4594	c.4150C>T	c.(4150-4152)CGC>TGC	p.R1384C	DLC1_uc003wwk.1_Missense_Mutation_p.R947C|DLC1_uc003wwl.1_Missense_Mutation_p.R981C|DLC1_uc011kxx.1_Missense_Mutation_p.R873C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1384	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTAAGTAGGCGCTTTAAGATT	0.453		NaN											0	0	0	1	0	25	71				
LZTS1	11178	broad.mit.edu	37	8	20110394	20110394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:20110394C>A	uc003wzr.2	-	2	1159	c.1048G>T	c.(1048-1050)GAG>TAG	p.E350*	LZTS1_uc010ltg.1_Nonsense_Mutation_p.E350*	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	350	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGAGGCTCTCGAGCTCCTGC	0.652		NaN											1	0	0.0477658	1	0.0481479	9	20				
EPB49	2039	broad.mit.edu	37	8	21927731	21927731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:21927731G>A	uc011kyt.1	+	8	719	c.490G>A	c.(490-492)GAG>AAG	p.E164K	EPB49_uc010ltl.2_Missense_Mutation_p.E164K|EPB49_uc011kys.1_Missense_Mutation_p.E124K|EPB49_uc010ltn.2_Missense_Mutation_p.E139K|EPB49_uc011kyu.1_Missense_Mutation_p.E164K|EPB49_uc011kyv.1_Missense_Mutation_p.E164K|EPB49_uc010ltq.2_Missense_Mutation_p.E164K	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	164					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GCACCTCATCGAGGATCTCAT	0.612		NaN											0	0	0	1	0	18	126				
C8orf86	389649	broad.mit.edu	37	8	38370103	38370103	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:38370103G>C	uc003xlx.1	-	3	499	c.474C>G	c.(472-474)CTC>CTG	p.L158L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	158											0						agacaggaaagagtttgatag	0.055		NaN											0	0	0	1	0	9	49				
ZMAT4	79698	broad.mit.edu	37	8	40532405	40532405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:40532405G>A	uc003xnr.2	-	5	541	c.395C>T	c.(394-396)CCG>CTG	p.P132L	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	132						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TGCGACCACCGGAGCAGTGTC	0.517		NaN											0	0	0	1	0	74	176				
SGK196	84197	broad.mit.edu	37	8	42977680	42977680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:42977680C>T	uc003xpw.2	+	5	972	c.713C>T	c.(712-714)TCC>TTC	p.S238F		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	238	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						AACCACAGCTCCGGGATGCTG	0.557		NaN											0	0	0	1	0	8	33				
PXDNL	137902	broad.mit.edu	37	8	52321993	52321993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:52321993C>T	uc003xqu.3	-	17	2292	c.2191G>A	c.(2191-2193)GAC>AAC	p.D731N	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	731					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACGTGCCGTCGTGGGCGCGG	0.677		NaN											0	0	0	1	0	5	24				
ST18	9705	broad.mit.edu	37	8	53062372	53062372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:53062372G>A	uc003xqz.2	-	11	2128	c.1972C>T	c.(1972-1974)CAG>TAG	p.Q658*	ST18_uc011ldq.1_Nonsense_Mutation_p.Q305*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q623*|ST18_uc011lds.1_Nonsense_Mutation_p.Q563*|ST18_uc003xra.2_Nonsense_Mutation_p.Q658*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q658*	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	658						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAAAGAGCCTGATAGAATGCT	0.458		NaN											0	0	0	1	0	12	56				
ZFHX4	79776	broad.mit.edu	37	8	77618762	77618762	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77618762C>G	uc003yav.2	+	2	2826	c.2439C>G	c.(2437-2439)CTC>CTG	p.L813L	ZFHX4_uc003yat.1_Silent_p.L813L|ZFHX4_uc003yau.1_Silent_p.L813L|ZFHX4_uc003yaw.1_Silent_p.L813L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGGCCTCGCCCCGGCGG	0.507		NaN								HNSCC(33;0.089)			0	0	0	1	0	3	17				
ZFHX4	79776	broad.mit.edu	37	8	77620217	77620217	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77620217C>G	uc003yav.2	+	3	3336	c.2949C>G	c.(2947-2949)AAC>AAG	p.N983K	ZFHX4_uc003yat.1_Missense_Mutation_p.N983K|ZFHX4_uc003yau.1_Missense_Mutation_p.N1009K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N983K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	983	C2H2-type 6.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTACACCAACAGTGTGGATA	0.473		NaN								HNSCC(33;0.089)			0	0	0	1	0	20	103				
LRRCC1	85444	broad.mit.edu	37	8	86035736	86035736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:86035736G>A	uc003ycw.2	+	7	1173	c.1019G>A	c.(1018-1020)AGA>AAA	p.R340K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.R41K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R247K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R320K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	340					cell division|mitosis	centriole|nucleus					0						TATGGAAACAGAAAAGAATGC	0.318		NaN											0	0	0	1	0	24	193				
DECR1	1666	broad.mit.edu	37	8	91055005	91055005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:91055005C>T	uc003yek.1	+	7	856	c.715C>T	c.(715-717)CAA>TAA	p.Q239*	DECR1_uc011lgc.1_Nonsense_Mutation_p.Q230*|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	239					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAATGTGATTCAACCAGGGCC	0.308		NaN											0	0	0	1	0	18	175				
DPY19L4	286148	broad.mit.edu	37	8	95782795	95782795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95782795G>C	uc003ygx.2	+	13	1574	c.1450G>C	c.(1450-1452)GAA>CAA	p.E484Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	484	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AATGGTTATAGAAGGGTAAGT	0.239		NaN											0	0	0	1	0	14	62				
CCNE2	9134	broad.mit.edu	37	8	95902660	95902660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95902660G>C	uc003yhc.2	-	6	545	c.436C>G	c.(436-438)CTA>GTA	p.L146V	CCNE2_uc003yhd.2_Missense_Mutation_p.L146V	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	146					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					AGCCAGTCTAGAAGTATGGAC	0.363		NaN											0	0	0	1	0	78	143				
KCNS2	3788	broad.mit.edu	37	8	99440523	99440523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:99440523G>A	uc003yin.2	+	2	666	c.316G>A	c.(316-318)GAG>AAG	p.E106K		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	106	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGAGATCGAGTACTGGGG	0.557		NaN											0	0	0	1	0	48	221				
VPS13B	157680	broad.mit.edu	37	8	100874104	100874104	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:100874104G>T	uc003yiv.2	+	58	11331	c.11220G>T	c.(11218-11220)CGG>CGT	p.R3740R	VPS13B_uc003yiw.2_Silent_p.R3715R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3740					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAGTGGCGGCGGCAGCTCC	0.672		NaN											1	0	3.07112e-06	1	3.24359e-06	11	27				
SNX31	169166	broad.mit.edu	37	8	101586104	101586104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586104C>T	uc003yjr.2	-	14	1463	c.1312G>A	c.(1312-1314)GAA>AAA	p.E438K	SNX31_uc011lha.1_Missense_Mutation_p.E233K|SNX31_uc011lhb.1_Missense_Mutation_p.E339K	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	438					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGATCTTCTTCCTTTATG	0.373		NaN											0	0	0	1	0	27	229				
SNX31	169166	broad.mit.edu	37	8	101586144	101586144	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586144C>G	uc003yjr.2	-	14	1423	c.1272G>C	c.(1270-1272)AAG>AAC	p.K424N	SNX31_uc011lha.1_Missense_Mutation_p.K219N|SNX31_uc011lhb.1_Missense_Mutation_p.K325N	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	424					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTTAGCTATCTTAATCTTGC	0.338		NaN											0	0	0	1	0	15	250				
UBR5	51366	broad.mit.edu	37	8	103341574	103341574	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:103341574G>A	uc003ykr.1	-	10	1185	c.1152C>T	c.(1150-1152)GTC>GTT	p.V384V	UBR5_uc003yks.1_Silent_p.V384V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	384					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTACTGCTGACAGCCAGAA	0.333		NaN											0	0	0	1	0	62	692				
TM7SF4	81501	broad.mit.edu	37	8	105361098	105361098	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361098C>A	uc003ylx.1	+	2	367	c.318C>A	c.(316-318)GTC>GTA	p.V106V		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	106	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGGGATCGTCATCTTGGGAC	0.438		NaN											1	0	1.45105e-14	1	1.64714e-14	17	193				
TM7SF4	81501	broad.mit.edu	37	8	105361151	105361151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361151G>A	uc003ylx.1	+	2	420	c.371G>A	c.(370-372)GGT>GAT	p.G124D		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	124					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCTAGATGGTATGACTTGC	0.418		NaN											0	0	0	1	0	28	230				
PKHD1L1	93035	broad.mit.edu	37	8	110456939	110456939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110456939C>T	uc003yne.2	+	38	4945	c.4841C>T	c.(4840-4842)TCA>TTA	p.S1614L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1614	Extracellular (Potential).|IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGAGGATTCAATTACATGT	0.383		NaN								HNSCC(38;0.096)			0	0	0	1	0	38	237				
PKHD1L1	93035	broad.mit.edu	37	8	110492237	110492237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110492237G>A	uc003yne.2	+	55	9300	c.9196G>A	c.(9196-9198)GAC>AAC	p.D3066N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3066	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGTAGCTGACATAGATAT	0.338		NaN								HNSCC(38;0.096)			0	0	0	1	0	5	13				
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:121259858C>T	uc003yox.2	+	21	2751	c.2486C>T	c.(2485-2487)TCC>TTC	p.S829F	COL14A1_uc003yoy.2_Missense_Mutation_p.S507F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	829	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTACCATCCTCGGGGCCC	0.473		NaN											0	0	0	1	0	9	86				
WDR67	93594	broad.mit.edu	37	8	124153062	124153062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124153062G>A	uc003ypp.1	+	18	2651	c.2561G>A	c.(2560-2562)AGA>AAA	p.R854K	WDR67_uc011lig.1_Missense_Mutation_p.R823K|WDR67_uc011lih.1_Missense_Mutation_p.R744K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R488K|WDR67_uc003ypt.1_Missense_Mutation_p.R311K|WDR67_uc003ypu.1_Missense_Mutation_p.R311K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	854	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGCCTATAGACGAAAAGTG	0.338		NaN											0	0	0	1	0	20	101				
FBXO32	114907	broad.mit.edu	37	8	124516888	124516888	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124516888C>G	uc003yqr.2	-	8	1126	c.934G>C	c.(934-936)GAT>CAT	p.D312H	FBXO32_uc003yqq.2_Missense_Mutation_p.D167H|FBXO32_uc010mdk.2_Missense_Mutation_p.D219H	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	312										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAAGGGTATCTCCATACTGC	0.498		NaN											0	0	0	1	0	9	48				
ZC3H3	23144	broad.mit.edu	37	8	144620768	144620768	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144620768G>C	uc003yyd.2	-	2	798	c.769C>G	c.(769-771)CCA>GCA	p.P257A		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	257					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGAGCTGTGGAGCACAGCTG	0.667		NaN											0	0	0	1	0	17	51				
FAM83H	286077	broad.mit.edu	37	8	144810168	144810168	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144810168T>C	uc003yzk.2	-	5	1532	c.1463A>G	c.(1462-1464)GAC>GGC	p.D488G	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	488					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGAAGTCATCCGGGTC	0.746		NaN											0	0	0	1	0	4	7				
SCRIB	23513	broad.mit.edu	37	8	144897387	144897387	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144897387G>A	uc003yzp.1	-	1	163	c.156C>T	c.(154-156)CCC>CCT	p.P52P	SCRIB_uc003yzo.1_Silent_p.P52P|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	52	LRR 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTCACCTTGGGCAGCTCGC	0.716		NaN											0	0	0	1	0	5	6				
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144993918G>A	uc003zaf.1	-	32	10652	c.10482C>T	c.(10480-10482)CTC>CTT	p.L3494L	PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3494	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGATGCCGGCGAGGCAGCCAC	0.657		NaN											0	0	0	1	0	16	41				
PARP10	84875	broad.mit.edu	37	8	145059118	145059118	+	Missense_Mutation	SNP	G	G	C	rs148128554		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145059118G>C	uc003zal.3	-	5	1160	c.1052C>G	c.(1051-1053)TCG>TGG	p.S351W	PARP10_uc003zak.3_Missense_Mutation_p.S57W|PARP10_uc011lku.1_Missense_Mutation_p.S363W|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S351W|PARP10_uc010mfn.1_Missense_Mutation_p.S266W|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	351						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGGCATCGAGCTGACTTG	0.627		NaN											0	0	0	1	0	15	126				
CPSF1	29894	broad.mit.edu	37	8	145625827	145625827	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145625827C>T	uc003zcj.2	-	8	822	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	CPSF1_uc003zck.1_Silent_p.Q171Q|CPSF1_uc011lle.1_Silent_p.Q249Q|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.Q249Q	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	249					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTGCACCTTCTGCGTGATGT	0.647		NaN											0	0	0	1	0	6	79				
GPT	2875	broad.mit.edu	37	8	145729780	145729780	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145729780G>A	uc011lli.1	+	2	250	c.93G>A	c.(91-93)CGG>CGA	p.R31R	GPT_uc011llj.1_Silent_p.R31R|GPT_uc003zdh.3_Silent_p.R31R	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	31					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCGTGTGCGGAGAGTGGAGT	0.672		NaN											0	0	0	1	0	5	22				
RECQL4	9401	broad.mit.edu	37	8	145739392	145739392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145739392C>T	uc003zdj.2	-	12	2010	c.1978G>A	c.(1978-1980)GAA>AAA	p.E660K		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	660	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGGCTCTTCAGCCACAGCC	0.657		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	1	0	6	5				
KANK1	23189	broad.mit.edu	37	9	713026	713026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:713026G>A	uc003zgl.1	+	7	2909	c.2260G>A	c.(2260-2262)GTG>ATG	p.V754M	KANK1_uc003zgm.2_Missense_Mutation_p.V754M|KANK1_uc003zgn.1_Missense_Mutation_p.V754M|KANK1_uc003zgo.1_Missense_Mutation_p.V754M|KANK1_uc003zgp.1_Missense_Mutation_p.V754M|KANK1_uc003zgq.2_Missense_Mutation_p.V596M|KANK1_uc003zgr.1_Missense_Mutation_p.V596M|KANK1_uc003zgs.1_Missense_Mutation_p.V596M	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	754					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATCAGCTGTGAAGACCAA	0.498		NaN											0	0	0	1	0	25	24				
GLDC	2731	broad.mit.edu	37	9	6595073	6595073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:6595073G>A	uc003zkc.2	-	9	1395	c.1202C>T	c.(1201-1203)TCC>TTC	p.S401F		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	401					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGCCCATGGGAACCATGGTA	0.418		NaN											0	0	0	1	0	34	123				
PTPRD	5789	broad.mit.edu	37	9	8484313	8484313	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:8484313G>A	uc003zkk.2	-	29	3930	c.3219C>T	c.(3217-3219)GTC>GTT	p.V1073V	PTPRD_uc003zkp.2_Silent_p.V662V|PTPRD_uc003zkq.2_Silent_p.V662V|PTPRD_uc003zkr.2_Silent_p.V657V|PTPRD_uc003zks.2_Silent_p.V652V|PTPRD_uc003zkl.2_Silent_p.V1064V|PTPRD_uc003zkm.2_Silent_p.V1060V|PTPRD_uc003zkn.2_Silent_p.V662V|PTPRD_uc003zko.2_Silent_p.V659V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1073	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTTCAGGTTGACAATTAACT	0.423		NaN								TSP Lung(15;0.13)			0	0	0	1	0	21	25				
ADAMTSL1	92949	broad.mit.edu	37	9	18657715	18657715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:18657715G>C	uc003zne.3	+	8	1040	c.913G>C	c.(913-915)GAT>CAT	p.D305H	ADAMTSL1_uc003znb.2_Missense_Mutation_p.D305H|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D305H	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	305						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGGAGACGGATTTCTTTCC	0.463		NaN											0	0	0	1	0	5	34				
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Nonsense_Mutation	SNP	G	G	T	rs141798398		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:21974792G>T	uc003zpk.2	-	1	247	c.35C>A	c.(34-36)TCG>TAG	p.S12*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	12	ANK 1.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGTCAGCCGAAGGCTCCAT	0.761		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			1	0	1.05317e-09	1	1.16403e-09	11	20		Valid		
ACO1	48	broad.mit.edu	37	9	32421006	32421006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:32421006C>T	uc003zqw.3	+	8	1106	c.951C>T	c.(949-951)ATC>ATT	p.I317I	ACO1_uc010mjh.1_Silent_p.I151I|ACO1_uc003zqx.3_Silent_p.I317I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	317					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAGTTAGTATCACGTACCTGG	0.483		NaN											0	0	0	1	0	29	93				
GALT	2592	broad.mit.edu	37	9	34647665	34647665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34647665C>T	uc003zve.2	+	4	407	c.340C>T	c.(340-342)CAT>TAT	p.H114Y	GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.H66Y|GALT_uc011lop.1_Missense_Mutation_p.H66Y	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	114			H -> L (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCAGTGATCATCCCCTTTT	0.517		NaN							Galactosemia				0	0	0	1	0	6	31				
KIAA1045	23349	broad.mit.edu	37	9	34971533	34971533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34971533G>A	uc003zvq.2	+	2	416	c.238G>A	c.(238-240)GAG>AAG	p.E80K	KIAA1045_uc003zvr.2_Missense_Mutation_p.E80K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	80							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CGCAGCCTGGGAGCGGCTCCG	0.637		NaN											0	0	0	1	0	26	88				
SPAG8	26206	broad.mit.edu	37	9	35811936	35811936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:35811936G>A	uc003zye.2	-	2	222	c.107C>T	c.(106-108)TCA>TTA	p.S36L	SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Missense_Mutation_p.S36L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	36						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGTCATCTGAAGAAGGAAA	0.388		NaN											0	0	0	1	0	10	37				
FOXD4L3	286380	broad.mit.edu	37	9	70918850	70918850	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:70918850G>C	uc004agm.1	+	1	1068	c.983G>C	c.(982-984)AGA>ACA	p.R328T		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	328						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TCAGCATTGAGAGTATTATGC	0.632		NaN											0	0	0	1	0	20	96				
TJP2	9414	broad.mit.edu	37	9	71866215	71866215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:71866215G>A	uc004ahe.2	+	21	3456	c.3256G>A	c.(3256-3258)GAG>AAG	p.E1086K	TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.E1053K|TJP2_uc011lrv.1_Missense_Mutation_p.E1108K|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1086					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CAAAATATTTGAGAAGATGGA	0.468		NaN											0	0	0	1	0	11	43				
HNRNPK	3190	broad.mit.edu	37	9	86586977	86586977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86586977C>G	uc004ang.3	-	11	997	c.773G>C	c.(772-774)AGA>ACA	p.R258T	HNRNPK_uc011lsw.1_Missense_Mutation_p.R18T|HNRNPK_uc004and.3_Missense_Mutation_p.R18T|HNRNPK_uc004ank.3_Missense_Mutation_p.R258T|HNRNPK_uc004anf.3_Missense_Mutation_p.R258T|HNRNPK_uc004anh.3_Missense_Mutation_p.R234T|HNRNPK_uc011lsx.1_Missense_Mutation_p.R234T|HNRNPK_uc004ani.3_Missense_Mutation_p.R258T|HNRNPK_uc004anj.3_Missense_Mutation_p.R258T|HNRNPK_uc004ann.3_Missense_Mutation_p.R234T|HNRNPK_uc004anl.3_Missense_Mutation_p.R258T|HNRNPK_uc004anm.3_Missense_Mutation_p.R258T|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	258	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-2.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						AAAACCACCTCTTCCCCGCAT	0.507		NaN											0	0	0	1	0	8	69				
SLC28A3	64078	broad.mit.edu	37	9	86905100	86905100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86905100C>T	uc010mpz.2	-	11	1243	c.1118G>A	c.(1117-1119)GGA>GAA	p.G373E	SLC28A3_uc011lsy.1_Missense_Mutation_p.G304E|SLC28A3_uc004anu.1_Missense_Mutation_p.G373E	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	373	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TAGCACGCTTCCAGCAATGGT	0.428		NaN											0	0	0	1	0	14	61				
DAPK1	1612	broad.mit.edu	37	9	90252913	90252913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:90252913G>A	uc004apc.2	+	4	478	c.340G>A	c.(340-342)GAG>AAG	p.E114K	DAPK1_uc004ape.2_Missense_Mutation_p.E114K|DAPK1_uc004apd.2_Missense_Mutation_p.E114K|DAPK1_uc011ltg.1_Missense_Mutation_p.E114K|DAPK1_uc011lth.1_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	114	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TTTAACTGAAGAGGAAGCAAC	0.413		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	1	0	27	45				
NOL8	55035	broad.mit.edu	37	9	95062233	95062233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95062233C>T	uc004arv.2	-	14	3578	c.3241G>A	c.(3241-3243)GAC>AAC	p.D1081N	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.D313N|NOL8_uc011ltw.1_Missense_Mutation_p.D1013N	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1081					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						GAACTGCTGTCTTGTAAACGA	0.398		NaN											0	0	0	1	0	47	216				
ZNF484	83744	broad.mit.edu	37	9	95618484	95618484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95618484C>G	uc004asu.1	-	3	281	c.132G>C	c.(130-132)TTG>TTC	p.L44F	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.L46F|ZNF484_uc010mrb.1_Missense_Mutation_p.L8F|ZNF484_uc004asv.1_Missense_Mutation_p.L8F	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCACTGAGATCAAGTTGAAAT	0.428		NaN											0	0	0	1	0	15	110				
KIAA1529	57653	broad.mit.edu	37	9	100071729	100071729	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100071729A>C	uc011lut.1	+	15	1425	c.652A>C	c.(652-654)AAG>CAG	p.K218Q	KIAA1529_uc004axe.1_Missense_Mutation_p.K218Q|KIAA1529_uc004axg.1_Missense_Mutation_p.K79Q|KIAA1529_uc011lus.1_Missense_Mutation_p.K79Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.K79Q|KIAA1529_uc011luv.1_Missense_Mutation_p.K79Q	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGCCACCAGGAAGCGGGCTGC	0.602		NaN											0	0	0	1	0	9	48				
TBC1D2	55357	broad.mit.edu	37	9	100963836	100963836	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100963836G>A	uc011lvb.1	-	11	2562	c.2382C>T	c.(2380-2382)CTC>CTT	p.L794L	TBC1D2_uc004ayp.2_Silent_p.L334L|TBC1D2_uc004ayq.2_Silent_p.L794L|TBC1D2_uc004ayr.2_Silent_p.L576L|TBC1D2_uc004ayo.3_Silent_p.L794L	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	794	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAAGACCACGAGGAACCAGT	0.612		NaN											0	0	0	1	0	14	65				
PPP3R2	5535	broad.mit.edu	37	9	104356723	104356723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104356723C>T	uc004bbr.2	-	1	561	c.490G>A	c.(490-492)GAG>AAG	p.E164K	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	161	EF-hand 4.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTGTGGATCTCCAGGTCTCTG	0.478		NaN											0	0	0	1	0	10	77				
GRIN3A	116443	broad.mit.edu	37	9	104433061	104433061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104433061C>G	uc004bbp.1	-	3	2234	c.1633G>C	c.(1633-1635)GAC>CAC	p.D545H	GRIN3A_uc004bbq.1_Missense_Mutation_p.D545H	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	545	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCATGGGGTCTAGACAGAGT	0.463		NaN											0	0	0	1	0	22	77				
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:105767661G>A	uc004bbs.2	+	5	818	c.748G>A	c.(748-750)GAT>AAT	p.D250N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	250	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368		NaN											0	0	0	1	0	8	55				
OR13C4	138804	broad.mit.edu	37	9	107288606	107288606	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107288606G>A	uc011lvn.1	-	1	885	c.885C>T	c.(883-885)ATC>ATT	p.I295I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	295	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCAAGCTATAGATTATGGGGT	0.403		NaN											0	0	0	1	0	14	76				
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107564394G>C	uc004bcl.2	-	34	4952	c.4639C>G	c.(4639-4641)CCG>GCG	p.P1547A		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1547	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTTGACTCGGAGGAAGTGCT	0.423		NaN											0	0	0	1	0	11	49				
C9orf5	23731	broad.mit.edu	37	9	111798489	111798489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:111798489G>A	uc004bdt.3	-	16	2428	c.2396C>T	c.(2395-2397)TCA>TTA	p.S799L	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.S791L	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	799						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TACTTACCCTGATATGTCAGA	0.373		NaN											0	0	0	1	0	5	38				
EPB41L4B	54566	broad.mit.edu	37	9	112020527	112020527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112020527C>G	uc004bdz.1	-	7	977	c.682G>C	c.(682-684)GAG>CAG	p.E228Q	EPB41L4B_uc004bea.2_Missense_Mutation_p.E228Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	228	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						AACCGAAACTCAGACACAAGC	0.443		NaN											0	0	0	1	0	10	61				
PALM2	114299	broad.mit.edu	37	9	112705701	112705701	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112705701T>C	uc004beg.2	+	7	1206	c.1136T>C	c.(1135-1137)ATG>ACG	p.M379T	PALM2_uc004bef.2_Missense_Mutation_p.M413T|PALM2_uc004beh.3_Missense_Mutation_p.M411T|PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001037293	NP_001032370	Q8IXS6	PALM2_HUMAN	paralemmin 2 isoform b	379					regulation of cell shape	plasma membrane				ovary(2)	2						TGTGTTGTCATGTGACCACTT	0.512		NaN											0	0	0	1	0	17	81				
HDHD3	81932	broad.mit.edu	37	9	116136283	116136283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:116136283C>G	uc004bhi.1	-	2	1136	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	HDHD3_uc004bhj.2_Missense_Mutation_p.E118Q|HDHD3_uc004bhk.2_Missense_Mutation_p.E118Q	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	118							phosphoglycolate phosphatase activity|protein binding				0						AGGGTGTCCTCAGCCCCATCC	0.627		NaN											0	0	0	1	0	35	132				
DFNB31	25861	broad.mit.edu	37	9	117188609	117188609	+	Missense_Mutation	SNP	G	G	A	rs142990800	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117188609G>A	uc004biz.3	-	4	1697	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.R350W	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	350	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						ATGAGGTGCCGAGATGACTTA	0.587		NaN											0	0	0	1	0	9	54				
TNC	3371	broad.mit.edu	37	9	117826296	117826296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117826296G>A	uc004bjj.3	-	12	3901	c.3539C>T	c.(3538-3540)GCC>GTC	p.A1180V	TNC_uc010mvf.2_Missense_Mutation_p.A1180V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1180	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GAGTTTGAGGGCATCCCAGCC	0.522		NaN											0	0	0	1	0	45	152				
CDK5RAP2	55755	broad.mit.edu	37	9	123182069	123182069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:123182069G>C	uc004bkf.2	-	27	4355	c.4174C>G	c.(4174-4176)CAA>GAA	p.Q1392E	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.Q401E|CDK5RAP2_uc004bke.2_Missense_Mutation_p.Q677E|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Q1392E|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lya.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Q1162E|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Q1159E	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1392					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGCTTACCTTGAGAAAAACTG	0.373		NaN											0	0	0	1	0	16	96				
DAB2IP	153090	broad.mit.edu	37	9	124519389	124519389	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:124519389G>C	uc004bln.2	+	4	445	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	DAB2IP_uc004blo.2_Missense_Mutation_p.E30Q	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	154	PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CATGGAGGAAGAGGTGGTCAT	0.637		NaN											0	0	0	1	0	12	37				
FAM102A	399665	broad.mit.edu	37	9	130705511	130705511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:130705511G>C	uc004bsx.1	-	11	1194	c.1115C>G	c.(1114-1116)TCT>TGT	p.S372C	FAM102A_uc004bsw.1_Missense_Mutation_p.S230C|FAM102A_uc004bsy.1_3'UTR	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	372										ovary(1)	1						GACCCCAGAAGAGACCCTGCA	0.542		NaN									OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	64				
ZER1	10444	broad.mit.edu	37	9	131497667	131497667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:131497667G>C	uc004bwa.1	-	14	2519	c.2086C>G	c.(2086-2088)CCT>GCT	p.P696A		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	696					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGGCTGACAGGAGAGATTCCC	0.532		NaN											0	0	0	1	0	4	28				
POMT1	10585	broad.mit.edu	37	9	134381829	134381829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:134381829G>C	uc004cav.2	+	4	471	c.269G>C	c.(268-270)AGA>ACA	p.R90T	POMT1_uc011mci.1_Missense_Mutation_p.R90T|POMT1_uc004cax.2_Missense_Mutation_p.R90T|POMT1_uc011mcj.1_Missense_Mutation_p.E8Q|POMT1_uc004cau.2_Missense_Mutation_p.R90T|POMT1_uc004caw.2_Missense_Mutation_p.R36T|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Missense_Mutation_p.Q54H	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	90					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGTGGAACAGAATTGGAGCA	0.294		NaN											0	0	0	1	0	37	146				
CEL	1056	broad.mit.edu	37	9	135940563	135940563	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135940563C>T	uc010naa.1	+	4	502	c.486C>T	c.(484-486)GTC>GTT	p.V162V		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	159					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCATCGTGGTCACCTTCAACT	0.642		NaN											0	0	0	1	0	42	201				
CEL	1056	broad.mit.edu	37	9	135947125	135947125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135947125C>T	uc010naa.1	+	11	2261	c.2245C>T	c.(2245-2247)CAG>TAG	p.Q749*		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	746					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGGAAGCTCAGATGCCTGC	0.647		NaN											0	0	0	1	0	5	38				
ADAMTS13	11093	broad.mit.edu	37	9	136324273	136324273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:136324273C>T	uc004cdv.3	+	29	4699	c.4255C>T	c.(4255-4257)CAG>TAG	p.Q1419*	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Q1089*|ADAMTS13_uc004ceb.3_Nonsense_Mutation_p.Q215*|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1419	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGGACCCTCAGTCCTGGAA	0.587		NaN											0	0	0	1	0	7	15				
COL5A1	1289	broad.mit.edu	37	9	137704502	137704502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:137704502G>A	uc004cfe.2	+	48	4178	c.3796G>A	c.(3796-3798)GAT>AAT	p.D1266N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1266	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCAGGTGCTGATGGCCCACA	0.622		NaN											0	0	0	1	0	6	7				
LHX3	8022	broad.mit.edu	37	9	139090634	139090634	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139090634C>T	uc004cha.2	-	5	736	c.639G>A	c.(637-639)AAG>AAA	p.K213K	LHX3_uc004cgz.2_Silent_p.K218K	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	213	Homeobox.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TCTTCAGCCTCTTCTCCTTGG	0.721		NaN											0	0	0	1	0	7	24				
FBXW5	54461	broad.mit.edu	37	9	139836636	139836636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139836636C>G	uc004cjx.2	-	6	1109	c.958G>C	c.(958-960)GAG>CAG	p.E320Q	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.E68Q|FBXW5_uc004cjz.2_Missense_Mutation_p.E68Q	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	320							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGCATGCGCTCCGACAGCTGT	0.697		NaN											0	0	0	1	0	4	5				
MAN1B1	11253	broad.mit.edu	37	9	139982608	139982608	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139982608T>A	uc004cld.2	+	2	336	c.301T>A	c.(301-303)TAC>AAC	p.Y101N	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.Y101N|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	101	Helical; Signal-anchor for type II membrane protein; (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACTCCTCTTCTACATCAACTT	0.438		NaN											0	0	0	1	0	17	118				
ARSH	347527	broad.mit.edu	37	X	2942120	2942120	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:2942120C>A	uc011mhj.1	+	6	960	c.960C>A	c.(958-960)TTC>TTA	p.F320L		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	320						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTGTACTTCACCTCTGACA	0.577		NaN											1	0	7.03913e-09	1	7.6857e-09	11	48				
ARSF	416	broad.mit.edu	37	X	3002382	3002382	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3002382C>G	uc004cre.1	+	6	726	c.505C>G	c.(505-507)CTC>GTC	p.L169V	ARSF_uc004crf.1_Missense_Mutation_p.L169V	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	169						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTTCACTCTCGTTGACAG	0.527		NaN											0	0	0	1	0	52	90				
PRKX	5613	broad.mit.edu	37	X	3530357	3530357	+	Missense_Mutation	SNP	C	C	T	rs139150166	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3530357C>T	uc010nde.2	-	8	1328	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	321	AGC-kinase C-terminal.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATCTTGGGCACGATGGGAGGC	0.537		NaN											0	0	0	1	0	5	31				
EGFL6	25975	broad.mit.edu	37	X	13635940	13635940	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:13635940G>T	uc004cvi.2	+	8	1110	c.870G>T	c.(868-870)ATG>ATT	p.M290I	EGFL6_uc004cvj.2_Missense_Mutation_p.M290I|EGFL6_uc011mik.1_Missense_Mutation_p.M191I	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	290					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2						AAAACAGCATGAAAAAGAAGG	0.418		NaN											1	0	1.31171e-36	1	1.52327e-36	68	117				
ACE2	59272	broad.mit.edu	37	X	15591524	15591524	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:15591524G>A	uc004cxa.1	-	11	1675	c.1507C>T	c.(1507-1509)CTG>TTG	p.L503L	ACE2_uc004cxb.2_Silent_p.L503L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	503	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACATGGAACAGAGATGCGGGG	0.423		NaN											0	0	0	1	0	53	135				
REPS2	9185	broad.mit.edu	37	X	17080621	17080621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:17080621C>T	uc004cxv.1	+	9	1346	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V	REPS2_uc004cxw.1_Missense_Mutation_p.A391V|REPS2_uc011miw.1_Missense_Mutation_p.A251V	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	392					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					TCACTGCCGGCAAATCAACAA	0.358		NaN											0	0	0	1	0	18	60				
PHKA2	5256	broad.mit.edu	37	X	18913260	18913260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:18913260C>T	uc004cyv.3	-	31	3762	c.3332G>A	c.(3331-3333)CGA>CAA	p.R1111Q	PHKA2_uc004cyu.3_Missense_Mutation_p.R417Q|PHKA2_uc010nfe.1_Missense_Mutation_p.R143Q|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1111			R -> RTR (in GSD9A; type 2).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TCGTACCTCTCGGGTCGTCGA	0.532		NaN											0	0	0	1	0	45	131				
EIF2S3	1968	broad.mit.edu	37	X	24086216	24086216	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:24086216G>A	uc004dbc.2	+	9	1024	c.1003G>A	c.(1003-1005)GGT>AGT	p.G335S		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	335						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						TGCTCCAGGCGGTCTTATTGG	0.363		NaN											0	0	0	1	0	24	63				
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:30873150C>G	uc004dcj.2	-	6	1295	c.632G>C	c.(631-633)AGA>ACA	p.R211T	TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	211	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						TTGTAAAGCTCTTGGTACAGT	0.423		NaN											0	0	0	1	0	25	52				
ATP6AP2	10159	broad.mit.edu	37	X	40460059	40460059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:40460059G>C	uc004det.2	+	8	886	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E186Q|ATP6AP2_uc011mkm.1_Missense_Mutation_p.E230Q|ATP6AP2_uc011mkn.1_Missense_Mutation_p.E184Q|ATP6AP2_uc004deu.1_Missense_Mutation_p.E127Q	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	262	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						TGCAGTGGTAGAGTTAGTCAC	0.373		NaN											0	0	0	1	0	19	68				
USP9X	8239	broad.mit.edu	37	X	41010204	41010204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:41010204G>C	uc004dfb.2	+	13	2290	c.1657G>C	c.(1657-1659)GAT>CAT	p.D553H	USP9X_uc004dfc.2_Missense_Mutation_p.D553H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	553					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CCAATGGATAGATCGCTTTAT	0.318		NaN											0	0	0	1	0	5	20				
ZNF157	7712	broad.mit.edu	37	X	47270104	47270104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47270104G>A	uc004dhr.1	+	3	294	c.225G>A	c.(223-225)ATG>ATA	p.M75I		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	75	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AACCAGAGATGATCTTCAAGT	0.527		NaN											0	0	0	1	0	5	9				
ZNF41	7592	broad.mit.edu	37	X	47307918	47307918	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47307918C>T	uc004dhs.3	-	4	1444	c.1377G>A	c.(1375-1377)GGG>GGA	p.G459G	ZNF41_uc004dhu.3_Silent_p.G451G|ZNF41_uc004dht.3_Silent_p.G331G|ZNF41_uc004dhv.3_Silent_p.G427G|ZNF41_uc004dhw.3_Silent_p.G419G|ZNF41_uc004dhy.3_Silent_p.G417G|ZNF41_uc004dhx.3_Silent_p.G417G|ZNF41_uc011mlm.1_Silent_p.G331G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	459	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				TGAAAGCCTTCCCACATTCAT	0.453		NaN											0	0	0	1	0	16	129				
FTSJ1	24140	broad.mit.edu	37	X	48340027	48340027	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48340027C>T	uc004djo.1	+	9	902	c.579C>T	c.(577-579)TTC>TTT	p.F193F	FTSJ1_uc004djl.2_Silent_p.F193F|FTSJ1_uc004djm.2_Silent_p.F193F|FTSJ1_uc004djn.1_Silent_p.F193F|FTSJ1_uc004djp.1_Silent_p.F193F|FTSJ1_uc011mlw.1_Silent_p.F56F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	193					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						CAGAGGCCTTCGCTGTCTGTC	0.647		NaN											0	0	0	1	0	7	19				
GRIPAP1	56850	broad.mit.edu	37	X	48837884	48837884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48837884C>T	uc004dly.1	-	20	1809	c.1774G>A	c.(1774-1776)GAG>AAG	p.E592K	GRIPAP1_uc004dlz.2_Missense_Mutation_p.E482K|GRIPAP1_uc004dma.2_Missense_Mutation_p.E513K	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	592	Potential.					early endosome				breast(2)|kidney(1)	3						TCCTTCACCTCCTGTGGGAGA	0.612		NaN											0	0	0	1	0	4	29				
WDR45	11152	broad.mit.edu	37	X	48933303	48933303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48933303G>C	uc004dmk.1	-	8	798	c.626C>G	c.(625-627)TCA>TGA	p.S209*	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Nonsense_Mutation_p.S107*|WDR45_uc004dmj.1_Nonsense_Mutation_p.S170*|WDR45_uc004dml.1_Nonsense_Mutation_p.S210*|WDR45_uc004dmm.1_Nonsense_Mutation_p.S174*|WDR45_uc010nim.1_Nonsense_Mutation_p.S209*|WDR45_uc004dmn.1_Nonsense_Mutation_p.S100*|WDR45_uc004dmo.1_Nonsense_Mutation_p.S232*|WDR45_uc004dmp.1_Nonsense_Mutation_p.S210*	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	209	WD 2.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	p.S210*(1)		ovary(1)	1						CTGGGAGGCTGAGGCCACTAC	0.557		NaN											0	0	0	1	0	23	26				
ZXDB	158586	broad.mit.edu	37	X	57620058	57620058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:57620058C>A	uc004dvd.2	+	1	1790	c.1577C>A	c.(1576-1578)TCT>TAT	p.S526Y		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	526	Required for interaction with ZXDC (By similarity).|C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GCCAGGTTCTCTGCTCGCAGT	0.517		NaN											1	0	1.33834e-09	1	1.47404e-09	10	65				
KIF4A	24137	broad.mit.edu	37	X	69521860	69521860	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69521860G>A	uc004dyg.2	+	6	754	c.627G>A	c.(625-627)TCG>TCA	p.S209S	KIF4A_uc010nkw.2_Silent_p.S209S|KIF4A_uc004dyf.1_Silent_p.S209S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	209	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						ACTCCCAGTCGTCCCGATCTC	0.413		NaN											0	0	0	1	0	6	96				
GDPD2	54857	broad.mit.edu	37	X	69646312	69646312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69646312C>T	uc004dyh.2	+	6	706	c.455C>T	c.(454-456)TCA>TTA	p.S152L	GDPD2_uc010nkx.1_Missense_Mutation_p.S152L|GDPD2_uc010nky.1_5'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.S152L|GDPD2_uc011mpl.1_Missense_Mutation_p.S73L|GDPD2_uc011mpm.1_Missense_Mutation_p.S73L	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	152	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					TTGCGTGTGTCACTGCAGGTG	0.592		NaN											0	0	0	1	0	14	17				
MED12	9968	broad.mit.edu	37	X	70360539	70360539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:70360539G>A	uc004dyy.2	+	42	6298	c.6099G>A	c.(6097-6099)ATG>ATA	p.M2033I	MED12_uc004dyz.2_Missense_Mutation_p.M2032I|MED12_uc004dza.2_Missense_Mutation_p.M1883I|MED12_uc010nla.2_Missense_Mutation_p.M662I	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2033	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGACTCCAATGAGTGCCCAGG	0.413		NaN											0	0	0	1	0	27	108				
ATP7A	538	broad.mit.edu	37	X	77244136	77244136	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:77244136G>A	uc004ecx.3	+	3	679	c.519G>A	c.(517-519)CTG>CTA	p.L173L	ATP7A_uc004ecw.2_Silent_p.L173L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	173	HMA 2.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AAGTCGTGCTGAAGATGAAAG	0.433		NaN											0	0	0	1	0	52	253				
ITM2A	9452	broad.mit.edu	37	X	78616609	78616609	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:78616609C>G	uc004edh.2	-	6	1104	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	ITM2A_uc011mqr.1_Missense_Mutation_p.E213Q	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	257						integral to membrane	protein binding			lung(2)	2						ATCTTGGTCTCAACAATAAAT	0.363		NaN											0	0	0	1	0	13	29				
BRWD3	254065	broad.mit.edu	37	X	79932201	79932201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:79932201C>G	uc004edt.2	-	41	5579	c.5316G>C	c.(5314-5316)GAG>GAC	p.E1772D	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E1368D|BRWD3_uc004edp.2_Missense_Mutation_p.E1601D|BRWD3_uc004edq.2_Missense_Mutation_p.E1368D|BRWD3_uc010nmj.1_Missense_Mutation_p.E1368D|BRWD3_uc004edr.2_Missense_Mutation_p.E1442D|BRWD3_uc004eds.2_Missense_Mutation_p.E1368D|BRWD3_uc004edu.2_Missense_Mutation_p.E1442D|BRWD3_uc004edv.2_Missense_Mutation_p.E1368D|BRWD3_uc004edw.2_Missense_Mutation_p.E1368D|BRWD3_uc004edx.2_Missense_Mutation_p.E1368D|BRWD3_uc004edy.2_Missense_Mutation_p.E1368D|BRWD3_uc004edz.2_Missense_Mutation_p.E1442D|BRWD3_uc004eea.2_Missense_Mutation_p.E1442D|BRWD3_uc004eeb.2_Missense_Mutation_p.E1368D|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1772										ovary(4)	4						TCAGAGGATCCTCAGTGGACA	0.398		NaN											0	0	0	1	0	10	52				
CYLC1	1538	broad.mit.edu	37	X	83127893	83127893	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:83127893G>A	uc004eei.1	+	4	199	c.178_splice	c.e4-1	p.R60_splice	CYLC1_uc004eeh.1_Splice_Site_p.R59_splice	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head						cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AATCTTTTCAGAGACATGACA	0.294		NaN											0	0	0	1	0	4	16				
TCEAL1	9338	broad.mit.edu	37	X	102885010	102885010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:102885010G>A	uc004eks.2	+	3	340	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TCEAL1_uc004ekt.2_Missense_Mutation_p.E56K|TCEAL1_uc004eku.2_Missense_Mutation_p.E56K	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCTTGCCTGAGCTCCTGCC	0.642		NaN											0	0	0	1	0	11	30				
ZCCHC18	644353	broad.mit.edu	37	X	103359457	103359457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:103359457G>T	uc011msh.1	+	3	1971	c.655G>T	c.(655-657)GAA>TAA	p.E219*	MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	219							nucleic acid binding|zinc ion binding				0						GATAAGGGAGGAAGAGGATTG	0.502		NaN											1	0	0.00909568	1	0.00919788	4	33				
TRPC5	7224	broad.mit.edu	37	X	111019659	111019659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111019659G>A	uc004epl.1	-	11	3723	c.2804C>T	c.(2803-2805)TCA>TTA	p.S935L		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	935	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TTTAGAATTTGAGGAGCAGAT	0.483		NaN											0	0	0	1	0	7	52				
ZCCHC16	340595	broad.mit.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111698393C>G	uc004epo.1	+	3	878	c.437C>G	c.(436-438)CCT>CGT	p.P146R		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding|zinc ion binding	p.P146L(1)		ovary(1)	1						GAAATCAATCCTCTGATGAAT	0.418		NaN											0	0	0	1	0	16	127				
WDR44	54521	broad.mit.edu	37	X	117576550	117576550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117576550C>G	uc004eqn.2	+	17	2716	c.2291C>G	c.(2290-2292)TCC>TGC	p.S764C	WDR44_uc004eqo.2_Missense_Mutation_p.S764C|WDR44_uc011mtr.1_Missense_Mutation_p.S675C|WDR44_uc010nqi.2_Missense_Mutation_p.S474C	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	764	WD 5.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCAAATGACTCCAGAATCAGA	0.338		NaN											0	0	0	1	0	25	49				
DOCK11	139818	broad.mit.edu	37	X	117679988	117679988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117679988C>T	uc004eqp.2	+	6	530	c.467C>T	c.(466-468)TCA>TTA	p.S156L		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	156					blood coagulation	cytosol	GTP binding			ovary(3)	3						TTTCAGGACTCATCTTCTTTA	0.408		NaN											0	0	0	1	0	23	63				
DOCK11	139818	broad.mit.edu	37	X	117761530	117761530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117761530G>A	uc004eqp.2	+	33	3715	c.3652G>A	c.(3652-3654)GAC>AAC	p.D1218N	DOCK11_uc004eqq.2_Missense_Mutation_p.D997N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1218					blood coagulation	cytosol	GTP binding			ovary(3)	3						TCTGAGCACTGACAAAGACAC	0.383		NaN											0	0	0	1	0	12	96				
ZBTB33	10009	broad.mit.edu	37	X	119387705	119387705	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:119387705G>A	uc004esn.1	+	2	663	c.435G>A	c.(433-435)AAG>AAA	p.K145K	ZBTB33_uc010nqm.1_Silent_p.K145K	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	145					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTGGTGACAAGAACCTTGTAA	0.403		NaN											0	0	0	1	0	10	54				
CT47B1	643311	broad.mit.edu	37	X	120009116	120009116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:120009116G>A	uc011muc.1	-	1	664	c.409C>T	c.(409-411)CAC>TAC	p.H137Y		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 147, member B1	137											0						TGGTCGTTGTGATAGAGGCGG	0.652		NaN											0	0	0	1	0	10	59				
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:123179197C>A	uc004etz.3	+	7	985	c.646C>A	c.(646-648)CGA>AGA	p.R216R	STAG2_uc004eua.2_Silent_p.R216R|STAG2_uc004eub.2_Silent_p.R216R|STAG2_uc004euc.2_Silent_p.R216R|STAG2_uc004eud.2_Silent_p.R216R|STAG2_uc004eue.2_Silent_p.R216R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CAGAGCATTTCGACATACAAG	0.343		NaN											1	0	2.16136e-38	1	2.51228e-38	83	139				
DCAF12L2	340578	broad.mit.edu	37	X	125299590	125299590	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:125299590C>A	uc004euk.1	-	1	345	c.318G>T	c.(316-318)CTG>CTT	p.L106L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	106										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCCTGGCGTTCAGCCACTGTG	0.652		NaN											1	0	0.0477658	1	0.0481479	8	75				
UTP14A	10813	broad.mit.edu	37	X	129053376	129053376	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:129053376G>A	uc004euz.2	+	8	691	c.663G>A	c.(661-663)AAG>AAA	p.K221K	UTP14A_uc011mup.1_Silent_p.K169K|UTP14A_uc011muq.1_Silent_p.K167K|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	221	Potential.				rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TGTAGGCAAAGATGCGACGAG	0.517		NaN											0	0	0	1	0	43	85				
AFF2	2334	broad.mit.edu	37	X	147919173	147919173	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:147919173G>A	uc004fcp.2	+	5	1568	c.1089G>A	c.(1087-1089)GAG>GAA	p.E363E	AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.E359E|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	363					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATTAGGAGATGACCCATT	0.413		NaN											0	0	0	1	0	6	61				
IDS	3423	broad.mit.edu	37	X	148571931	148571931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:148571931A>G	uc011mxe.1	-	7	1118	c.920T>C	c.(919-921)TTG>TCG	p.L307S	IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.L217S|IDS_uc011mxg.1_Missense_Mutation_p.L96S|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.L96S|IDS_uc011mxh.1_Missense_Mutation_p.L307S|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	307						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGTATCCAAATATGACAC	0.433		NaN											0	0	0	1	0	20	91				
MTMR1	8776	broad.mit.edu	37	X	149867721	149867721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:149867721C>T	uc004fei.2	+	2	335	c.200C>T	c.(199-201)TCT>TTT	p.S67F	MTMR1_uc011mya.1_5'UTR|MTMR1_uc004feg.1_Missense_Mutation_p.S67F|MTMR1_uc004feh.1_Missense_Mutation_p.S67F|MTMR1_uc004fej.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	67						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GCTACAATTTCTAGTCAGATT	0.353		NaN											0	0	0	1	0	18	86				
RENBP	5973	broad.mit.edu	37	X	153205672	153205672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153205672C>T	uc004fjo.1	-	9	1130	c.960G>A	c.(958-960)ATG>ATA	p.M320I		NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	320					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCAGAGCTTCATGGCCCACT	0.602		NaN											0	0	0	1	0	11	51				
RENBP	5973	broad.mit.edu	37	X	153207433	153207433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153207433G>T	uc004fjo.1	-	7	909	c.739C>A	c.(739-741)CCT>ACT	p.P247T	RENBP_uc011mzh.1_Intron	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	247					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGGCAGCCAGGAAGTTCCTTG	0.632		NaN											1	0	1.30475e-32	1	1.5138e-32	39	80				
IL9R	3581	broad.mit.edu	37	X	155232650	155232650	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:155232650C>T	uc004fnv.1	+	2	287	c.108C>T	c.(106-108)GTC>GTT	p.V36V	IL9R_uc010nvn.2_Silent_p.V15V|IL9R_uc004fnu.1_Silent_p.V83V	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	36					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACCTGTGTCTGCTTGGGAG	0.607		NaN											0	0	0	1	0	12	113				
CDK11A	728642	broad.mit.edu	37	1	1634992	1634992	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1634992G>A	uc009vks.2	-	18	2091	c.1983C>T	c.(1981-1983)TTC>TTT	p.F661F	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.F168F|CDK11A_uc009vkp.2_Silent_p.F278F|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.F651F	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	664					apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GGTGCTCGCTGAAGGTCATCT	0.587		NaN											0	0	0	0.000602	0	4	15				
GNB1	2782	broad.mit.edu	37	1	1756890	1756890	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1756890C>A	uc001aif.2	-	3	335	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GNB1_uc009vky.2_5'UTR	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	1					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CAAGCTCACTCATCTTCCGAT	0.398		NaN											1	0	2.4537e-52	0.01441	2.86817e-52	129	128				
SLC45A1	50651	broad.mit.edu	37	1	8403885	8403885	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:8403885G>T	uc001apb.2	+	8	2059	c.2059G>T	c.(2059-2061)GCT>TCT	p.A687S	SLC45A1_uc001apc.2_Missense_Mutation_p.A385S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	687	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTTCCTGGCTCAGATTCT	0.642		NaN											1	0	3.51602e-12	0.008871	3.81361e-12	17	57				
UBR4	23352	broad.mit.edu	37	1	19487579	19487579	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:19487579C>T	uc001bbi.2	-	38	5242	c.5238G>A	c.(5236-5238)CAG>CAA	p.Q1746Q	UBR4_uc001bbm.1_Silent_p.Q957Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1746					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGTTCACTCTGAAATGCCG	0.517		NaN											0	0	0	0.00308	0	8	23				
LDLRAP1	26119	broad.mit.edu	37	1	25893369	25893369	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:25893369C>T	uc001bkl.3	+	9	927	c.813C>T	c.(811-813)GTC>GTT	p.V271V	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Silent_p.V101V	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	271	AP-2 complex binding.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTCAGGTCCTGGACACTG	0.657		NaN											0	0	0	0.000602	0	5	10				
POU3F1	5453	broad.mit.edu	37	1	38511353	38511353	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:38511353C>T	uc001ccp.1	-	1	1098	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	355	Homeobox.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGCTCTCGAGCGCGCCT	0.662		NaN											0	0	0	0.001168	0	6	10				
HPCAL4	51440	broad.mit.edu	37	1	40150121	40150121	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:40150121T>A	uc001cdr.2	-	2	275	c.155A>T	c.(154-156)TAC>TTC	p.Y52F	HPCAL4_uc010oix.1_Missense_Mutation_p.Y52F	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	52	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTTGATGTAGAGCTGCTG	0.632		NaN											0	0	0	0.006122	0	14	14				
POMGNT1	55624	broad.mit.edu	37	1	46655654	46655654	+	Missense_Mutation	SNP	C	C	T	rs150351855		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46655654C>T	uc001cpe.2	-	20	1821	c.1657G>A	c.(1657-1659)GAG>AAG	p.E553K	POMGNT1_uc010olx.1_Missense_Mutation_p.E531K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.E410K|POMGNT1_uc001cpg.2_Missense_Mutation_p.E553K|POMGNT1_uc001cpf.2_Missense_Mutation_p.E220K	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	553	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCAGAACCTCAGCCTCACTG	0.443		NaN											0	0	0	0.009096	0	3	16				
LRRC41	10489	broad.mit.edu	37	1	46744864	46744864	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46744864G>C	uc001cpn.2	-	9	2253	c.2209C>G	c.(2209-2211)CTG>GTG	p.L737V	LRRC41_uc010omb.1_3'UTR	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	737	LRR 7.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CTGATGTCCAGCTGACAGAGA	0.532		NaN											0	0	0	0.007291	0	24	17				
FAF1	11124	broad.mit.edu	37	1	50941244	50941244	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:50941244C>T	uc009vyx.1	-	19	1824	c.1761G>A	c.(1759-1761)GAG>GAA	p.E587E	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.E587E|FAF1_uc010onc.1_Silent_p.E345E	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	587	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GGAAACGCCGCTCCAAGAACT	0.522		NaN											0	0	0	0.009096	0	4	26				
CDC7	8317	broad.mit.edu	37	1	91967346	91967346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:91967346G>A	uc001doe.2	+	2	238	c.73G>A	c.(73-75)GAA>AAA	p.E25K	CDC7_uc001dof.2_Missense_Mutation_p.E25K|CDC7_uc010osw.1_Missense_Mutation_p.E25K|CDC7_uc009wdc.2_Missense_Mutation_p.E25K	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	25					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTTTCAGGCTGAAGGCTCTTT	0.413		NaN											0	0	0	0.003954	0	24	90				
GLMN	11146	broad.mit.edu	37	1	92757089	92757089	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:92757089G>A	uc001dor.2	-	4	286	c.171C>T	c.(169-171)ATC>ATT	p.I57I	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.I57I	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	57					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TATTCTTGATGATGACCTGTA	0.373		NaN							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				0	0	0	0.010729	0	9	25				
CCDC18	343099	broad.mit.edu	37	1	93646208	93646208	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:93646208C>T	uc001dpq.2	+	1	289	c.121C>T	c.(121-123)CGG>TGG	p.R41W	TMED5_uc001dpn.2_5'UTR|TMED5_uc001dpo.2_5'UTR|TMED5_uc001dpp.2_RNA	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	Error:Variant_position_missing_in_Q5T9S5_after_alignment										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCCGCGCCTTCGGCGGCGCCT	0.721		NaN											0	0	0	0.007413	0	20	9				
KCNA2	3737	broad.mit.edu	37	1	111147122	111147122	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:111147122C>A	uc001dzu.2	-	2	779	c.283G>T	c.(283-285)GGG>TGG	p.G95W	KCNA2_uc009wfv.1_Missense_Mutation_p.G95W|KCNA2_uc009wfw.2_Missense_Mutation_p.G95W	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	95						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AATCGGCCCCCTGACTGGTAG	0.473		NaN											1	0	0.000978159	0.010729	0.00101028	12	48				
SIKE1	80143	broad.mit.edu	37	1	115318966	115318966	+	Splice_Site	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:115318966C>T	uc001efo.3	-	4	602	c.522_splice	c.e4+1	p.E174_splice	SIKE1_uc001efp.3_Splice_Site_p.E178_splice	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 2							cytosol	protein binding				0						TACAATCTTACCTCTAATTGG	0.373		NaN											0	0	0	0.00499	0	17	62				
SPAG17	200162	broad.mit.edu	37	1	118640299	118640299	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:118640299C>T	uc001ehk.2	-	7	1073	c.1005G>A	c.(1003-1005)GAG>GAA	p.E335E		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	335						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCATCATCTCACCATCTG	0.348		NaN											0	0	0	0.004482	0	6	18				
SETDB1	9869	broad.mit.edu	37	1	150923028	150923028	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:150923028C>T	uc001evu.2	+	13	1865	c.1675C>T	c.(1675-1677)CCA>TCA	p.P559S	SETDB1_uc009wmf.2_Missense_Mutation_p.P560S|SETDB1_uc001evv.2_Missense_Mutation_p.P559S|SETDB1_uc009wmg.1_Missense_Mutation_p.P559S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCGGGCCCCAGCAGAGCC	0.587		NaN											0	0	0	0.00632	0	29	179				
SHE	126669	broad.mit.edu	37	1	154459062	154459062	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:154459062G>T	uc001ffb.2	-	4	1209	c.1122C>A	c.(1120-1122)GCC>GCA	p.A374A	SHE_uc001ffc.2_RNA	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	374										breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTCCGAGAGGGCTGGCTTCA	0.597		NaN											1	0	1.32181e-22	0.007291	1.4995e-22	29	106				
DCST1	149095	broad.mit.edu	37	1	155013956	155013956	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155013956G>T	uc001fgn.1	+	7	711	c.615G>T	c.(613-615)ACG>ACT	p.T205T	DCST1_uc010per.1_Silent_p.T230T|DCST1_uc010pes.1_Silent_p.T180T	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	205	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ATAGTGAGACGGGCTACACGC	0.587		NaN											1	0	6.42651e-13	0.010729	6.99237e-13	12	87				
DCST1	149095	broad.mit.edu	37	1	155023327	155023327	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155023327A>G	uc001fgn.1	+	17	2200	c.2104A>G	c.(2104-2106)ACT>GCT	p.T702A	DCST1_uc010pes.1_Missense_Mutation_p.T677A|uc001fgo.2_RNA|ADAM15_uc001fgq.1_5'Flank|ADAM15_uc009wpc.1_5'Flank|ADAM15_uc010pet.1_5'Flank|ADAM15_uc010peu.1_5'Flank|ADAM15_uc001fgt.1_5'Flank|ADAM15_uc010pev.1_5'Flank|ADAM15_uc001fgs.1_5'Flank|ADAM15_uc001fgr.1_5'Flank|ADAM15_uc001fgu.1_5'Flank|ADAM15_uc001fgw.1_5'Flank|ADAM15_uc001fgv.1_5'Flank|ADAM15_uc001fgx.1_5'Flank|ADAM15_uc001fgz.1_5'Flank|ADAM15_uc001fgy.1_5'Flank|ADAM15_uc001fha.1_5'Flank	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	702	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACGACGACACTGCCTACGC	0.637		NaN									OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00278	0	22	12				
SCAMP3	10067	broad.mit.edu	37	1	155226174	155226174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155226174G>A	uc001fjs.2	-	9	1187	c.934C>T	c.(934-936)CAG>TAG	p.Q312*	RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Nonsense_Mutation_p.Q159*|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q298*|SCAMP3_uc001fjv.2_3'UTR|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q286*	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	312	Cytoplasmic (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGGCCTTCTGAAAGCTGGCA	0.582		NaN											0	0	0	0.01441	0	46	236				
GON4L	54856	broad.mit.edu	37	1	155736062	155736062	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155736062A>G	uc001flz.2	-	21	3299	c.3202T>C	c.(3202-3204)TCT>CCT	p.S1068P	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S1068P|GON4L_uc009wrh.1_Missense_Mutation_p.S1068P|GON4L_uc001fma.1_Missense_Mutation_p.S1068P|GON4L_uc001fmb.3_Missense_Mutation_p.S264P|GON4L_uc001fmc.2_Missense_Mutation_p.S1068P|GON4L_uc001fmd.3_Missense_Mutation_p.S1068P|GON4L_uc009wri.2_Missense_Mutation_p.S654P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1068					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGCAGGAGACTCAAAACTC	0.567		NaN											0	0	0	0.01441	0	52	13				
CD84	8832	broad.mit.edu	37	1	160520800	160520800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160520800G>T	uc001fwh.3	-	6	861	c.837C>A	c.(835-837)TAC>TAA	p.Y279*	CD84_uc001fwf.3_Nonsense_Mutation_p.Y262*|CD84_uc001fwg.3_Nonsense_Mutation_p.Y273*|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Nonsense_Mutation_p.Y148*	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	279	Cytoplasmic (Potential).|ITSM motif 1.			Y->F: Reduced tyrosine phosphorylation, reduced binding of SH2D1B and loss of binding of SH2D1A.	blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGATATATGTGTATATGGTTT	0.378		NaN											1	0	2.26627e-22	0.007835	2.55417e-22	40	79				
LMX1A	4009	broad.mit.edu	37	1	165173230	165173230	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:165173230T>A	uc001gcy.1	-	8	1257	c.1036A>T	c.(1036-1038)AGT>TGT	p.S346C	LMX1A_uc001gcz.1_Missense_Mutation_p.S346C|LMX1A_uc001gcw.1_Missense_Mutation_p.S64C|LMX1A_uc001gcx.1_Missense_Mutation_p.S97C	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	346						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CCCAGGTTACTGAGGGAGGTG	0.507		NaN											0	0	0	0.00308	0	8	86				
SCYL3	57147	broad.mit.edu	37	1	169857941	169857941	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:169857941C>G	uc001ggs.2	-	2	239	c.41G>C	c.(40-42)AGA>ACA	p.R14T	SCYL3_uc001ggt.2_Missense_Mutation_p.R14T|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	14	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGTGGTTCTCTCAGTGTATA	0.423		NaN											0	0	0	0.008291	0	10	72				
LHX4	89884	broad.mit.edu	37	1	180217472	180217472	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:180217472G>A	uc001goe.1	+	2	352	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	43	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGTTCATCCTGAAGGTCCTGG	0.592		NaN											0	0	0	0.00308	0	8	49				
ASPM	259266	broad.mit.edu	37	1	197112811	197112811	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:197112811G>A	uc001gtu.2	-	3	828	c.571C>T	c.(571-573)CCA>TCA	p.P191S	ASPM_uc001gtv.2_Missense_Mutation_p.P191S|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	191					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GCTTGTAGTGGGCTCCTAACT	0.353		NaN											0	0	0	0.01441	0	85	14				
PIK3C2B	5287	broad.mit.edu	37	1	204412707	204412707	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:204412707G>A	uc001haw.2	-	20	3365	c.2886C>T	c.(2884-2886)CTC>CTT	p.L962L	PIK3C2B_uc010pqv.1_Silent_p.L934L	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	962					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAGTCCTTGAGGCCGTCCT	0.587		NaN											0	0	0	0.01441	0	151	24				
LYST	1130	broad.mit.edu	37	1	235973787	235973787	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:235973787T>A	uc001hxj.2	-	5	506	c.331A>T	c.(331-333)AAC>TAC	p.N111Y	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.N111Y	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	111					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAACTTGAGTTCTTTTCTTTG	0.348		NaN							Chediak-Higashi_syndrome				0	0	0	0.012213	0	33	9				
TRIM58	25893	broad.mit.edu	37	1	248028105	248028105	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:248028105G>A	uc001ido.2	+	3	663	c.615G>A	c.(613-615)GAG>GAA	p.E205E		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	205	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCGGCTGGAGGCGGAGGAGC	0.622		NaN											0	0	0	0.010771	0	42	8				
RSU1	6251	broad.mit.edu	37	10	16824066	16824066	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:16824066T>C	uc001iok.2	-	2	429	c.127A>G	c.(127-129)ACA>GCA	p.T43A	RSU1_uc001iol.2_Missense_Mutation_p.T43A|RSU1_uc001iom.2_5'UTR|RSU1_uc001ion.2_Missense_Mutation_p.T43A	NM_152724	NP_689937	Q15404	RSU1_HUMAN	ras suppressor protein 1 isoform 2	43	LRR 1.				cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(1;7.54e-08)		ACCAGTTGTGTGATATGGGAT	0.373		NaN											0	0	0	0.004482	0	8	35				
ANKRD30A	91074	broad.mit.edu	37	10	37486374	37486374	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:37486374C>A	uc001iza.1	+	29	2613	c.2514C>A	c.(2512-2514)GCC>GCA	p.A838A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	894						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CAAATAAAGCCTTGGAATTGA	0.318		NaN											1	0	6.97489e-18	0.004878	7.75984e-18	28	34				
CHAT	1103	broad.mit.edu	37	10	50872873	50872873	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:50872873T>C	uc001jhz.2	+	15	2181	c.2028T>C	c.(2026-2028)AAT>AAC	p.N676N	CHAT_uc001jhv.1_Silent_p.N558N|CHAT_uc001jhx.1_Silent_p.N558N|CHAT_uc001jhy.1_Silent_p.N558N|CHAT_uc001jia.2_Silent_p.N558N|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	676					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGGTCCCAAATGGGTATGGTG	0.537		NaN											0	0	0	0.01441	0	48	137				
KIAA0913	23053	broad.mit.edu	37	10	75545836	75545836	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:75545836G>A	uc009xrl.2	+	1	232	c.200G>A	c.(199-201)AGA>AAA	p.R67K	KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.R67K|KIAA0913_uc001jvf.2_Missense_Mutation_p.R67K|uc009xrm.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	67							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGCGGTACCAGAATGCGAGGT	0.692		NaN											0	0	0	0.004672	0	3	10				
CEP55	55165	broad.mit.edu	37	10	95287764	95287764	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:95287764G>A	uc009xug.2	+	9	1431	c.1249G>A	c.(1249-1251)GAA>AAA	p.E417K	CEP55_uc001kiq.3_Missense_Mutation_p.E417K	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	417	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AGGAGAGACTGAAAACAGAGA	0.418		NaN											0	0	0	0.001855	0	12	26				
ZNF518A	9849	broad.mit.edu	37	10	97920088	97920088	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:97920088C>T	uc001klp.2	+	6	4866	c.4009C>T	c.(4009-4011)CTT>TTT	p.L1337F	ZNF518A_uc001klo.1_Missense_Mutation_p.L807F|ZNF518A_uc001klq.2_Missense_Mutation_p.L1337F|ZNF518A_uc001klr.2_Missense_Mutation_p.L1337F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTCTAAACAGCTTGTGAAATG	0.378		NaN											0	0	0	0.000602	0	5	15				
SLIT1	6585	broad.mit.edu	37	10	98794286	98794286	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:98794286T>G	uc001kmw.2	-	23	2632	c.2380A>C	c.(2380-2382)AAC>CAC	p.N794H	SLIT1_uc009xvh.1_Intron	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	794	LRR 18.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGATCTTGTTGTTGCTCAGG	0.562		NaN											0	0	0	0.008361	0	29	37				
CHUK	1147	broad.mit.edu	37	10	101977825	101977825	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:101977825C>G	uc001kqp.2	-	9	915	c.860G>C	c.(859-861)AGA>ACA	p.R287T		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	287	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGGTCCTCCTCTCTGCTGAGG	0.373		NaN											0	0	0	0.010729	0	12	7				
NFKB2	4791	broad.mit.edu	37	10	104157318	104157318	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:104157318A>G	uc001kvb.2	+	8	802	c.537A>G	c.(535-537)AAA>AAG	p.K179K	NFKB2_uc001kva.2_Silent_p.K179K|NFKB2_uc010qqk.1_Silent_p.K179K|NFKB2_uc001kvd.2_Silent_p.K179K|NFKB2_uc009xxc.2_Silent_p.K179K	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	179	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AAGAGGCCAAAGAACTGAAGA	0.592		NaN	T	IGH@	B-NHL								0	0	0	0.004878	0	38	65				
ABLIM1	3983	broad.mit.edu	37	10	116247730	116247730	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:116247730T>A	uc010qsg.1	-	8	1127	c.1028A>T	c.(1027-1029)GAG>GTG	p.E343V	ABLIM1_uc010qsh.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsi.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsk.1_Missense_Mutation_p.E267V|ABLIM1_uc009xyp.2_Missense_Mutation_p.E277V|ABLIM1_uc010qsf.1_Missense_Mutation_p.E27V|ABLIM1_uc009xyn.2_Missense_Mutation_p.E20V|ABLIM1_uc010qsj.1_Missense_Mutation_p.E20V|ABLIM1_uc009xyo.2_Missense_Mutation_p.E191V	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	343	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGCTTTTCCTCGGTCTTCGT	0.478		NaN											0	0	0	0.00333	0	23	60				
PNLIP	5406	broad.mit.edu	37	10	118305637	118305637	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:118305637G>A	uc001lcm.2	+	2	76	c.33G>A	c.(31-33)CTG>CTA	p.L11L		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	11					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CACTGCTGCTGGGAGCAGTAG	0.433		NaN											0	0	0	0.001855	0	13	25				
WDR11	55717	broad.mit.edu	37	10	122624668	122624668	+	Missense_Mutation	SNP	G	G	C	rs145467317		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:122624668G>C	uc010qtf.1	+	6	1061	c.823G>C	c.(823-825)GTG>CTG	p.V275L	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	275						integral to membrane					0						TGACCTTGAGGTGAATCAGAC	0.378		NaN											0	0	0	0.006122	0	19	28				
DMBT1	1755	broad.mit.edu	37	10	124399605	124399605	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:124399605C>T	uc001lgk.1	+	52	6711	c.6605C>T	c.(6604-6606)TCA>TTA	p.S2202L	DMBT1_uc001lgl.1_Missense_Mutation_p.S2192L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1574L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2201L|DMBT1_uc010qtx.1_Missense_Mutation_p.S922L|DMBT1_uc009yab.1_Missense_Mutation_p.S905L|DMBT1_uc009yac.1_Missense_Mutation_p.S496L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2202	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGCTGTCTCAGGTGGCATC	0.522		NaN											0	0	0	0.008361	0	31	30				
PKP3	11187	broad.mit.edu	37	11	404268	404268	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:404268C>T	uc001lpc.2	+	12	2379	c.2303C>T	c.(2302-2304)TCC>TTC	p.S768F		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	768					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGGCAGCATCCAGCCTCCTG	0.662		NaN											0	0	0	0.008361	0	27	55				
TRAF6	7189	broad.mit.edu	37	11	36523047	36523047	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:36523047C>T	uc001mwr.1	-	3	359	c.19G>A	c.(19-21)GAA>AAA	p.E7K	TRAF6_uc001mws.1_Missense_Mutation_p.E7K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	7	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				CAGCTGTTTTCACAGTTTAGC	0.448		NaN											0	0	0	0.010729	0	11	17				
OR4A16	81327	broad.mit.edu	37	11	55110736	55110736	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55110736T>A	uc010rie.1	+	1	60	c.60T>A	c.(58-60)GAT>GAA	p.D20E		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						AAGATCCTGATGTGAAAAAAA	0.413		NaN											0	0	0	0.001168	0	6	9				
OR5L2	26338	broad.mit.edu	37	11	55595538	55595538	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55595538A>T	uc001nhy.1	+	1	844	c.844A>T	c.(844-846)ATT>TTT	p.I282F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CACAGTTGTGATTCCCATGCT	0.463		NaN								HNSCC(27;0.073)			0	0	0	0.006214	0	8	9				
OR8H1	219469	broad.mit.edu	37	11	56058390	56058390	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:56058390C>T	uc010rje.1	-	1	149	c.149G>A	c.(148-150)CGC>CAC	p.R50H		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GAGGTCCAGGCGGATTATCAA	0.423		NaN											0	0	0	0.01441	0	80	115				
UBE2L6	9246	broad.mit.edu	37	11	57319864	57319864	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:57319864G>A	uc001nkn.1	-	4	525	c.429C>T	c.(427-429)TTC>TTT	p.F143F	UBE2L6_uc001nko.1_Silent_p.F77F	NM_004223	NP_004214	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	143					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						ATCGGAGGGTGAACTCTTCGG	0.572		NaN											0	0	0	0.01441	0	71	99				
SIPA1	6494	broad.mit.edu	37	11	65417623	65417623	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:65417623G>C	uc001ofb.2	+	14	3030	c.2863G>C	c.(2863-2865)GAG>CAG	p.E955Q	SIPA1_uc010rom.1_Missense_Mutation_p.E853Q|SIPA1_uc001ofd.2_Missense_Mutation_p.E955Q	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	955					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						GCCCATCCCAGAGAGTGGAGA	0.607		NaN											0	0	0	0.01441	0	43	76				
MTL5	9633	broad.mit.edu	37	11	68517984	68517984	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:68517984A>T	uc001ooc.2	-	2	285	c.145T>A	c.(145-147)TTC>ATC	p.F49I	MTL5_uc001ood.1_Missense_Mutation_p.F49I|MTL5_uc009ysi.1_Missense_Mutation_p.F49I|MTL5_uc001ooe.2_Missense_Mutation_p.F49I	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	49					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCTTCTTTGAAGACGTGGAAC	0.647		NaN											0	0	0	0.000602	0	5	15				
CHORDC1	26973	broad.mit.edu	37	11	89956187	89956187	+	Translation_Start_Site	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:89956187C>T	uc001pdg.2	-	1	346	c.-64G>A	c.(-66--62)GAGTG>GAATG		CHORDC1_uc009yvz.2_Translation_Start_Site	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing						chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCGTTTGCCACTCCCGTGTCG	0.602		NaN											0	0	0	0.00308	0	7	12				
ADAMTS8	11095	broad.mit.edu	37	11	130275730	130275730	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:130275730A>T	uc001qgg.3	-	9	2751	c.2393T>A	c.(2392-2394)TTC>TAC	p.F798Y	ADAMTS8_uc001qgf.2_Missense_Mutation_p.F279Y	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	798	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTTTGGGGGGAAGACCTCGCC	0.567		NaN											0	0	0	0.01441	0	110	34				
CACNA1C	775	broad.mit.edu	37	12	2786965	2786965	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:2786965G>A	uc009zdu.1	+	43	5480	c.5167G>A	c.(5167-5169)GCT>ACT	p.A1723T	CACNA1C_uc009zdv.1_Missense_Mutation_p.A1672T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1664T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1681T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1716T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1723T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1695T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1692T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1703T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qki.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1400T|CACNA1C_uc010sea.1_Missense_Mutation_p.A366T|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1723	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATCTCACCGCTGAGGAGGA	0.612		NaN											0	0	0	0.008361	0	30	18				
ATN1	1822	broad.mit.edu	37	12	7043167	7043167	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7043167G>A	uc001qrw.1	+	2	240	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ATN1_uc001qrx.1_Missense_Mutation_p.M1I|ATN1_uc001qry.1_Missense_Mutation_p.M1I	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	1					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CCTGAAGAATGAAGACACGAC	0.517		NaN											0	0	0	0.001168	0	6	12				
CD163	9332	broad.mit.edu	37	12	7655119	7655119	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7655119T>G	uc001qsz.3	-	2	216	c.88A>C	c.(88-90)ACT>CCT	p.T30P	CD163_uc001qta.3_Missense_Mutation_p.T30P|CD163_uc009zfw.2_Missense_Mutation_p.T30P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	30					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						aagaccacagtaatggtgaag	0.234		NaN											0	0	0	0.004672	0	2	5				
A2ML1	144568	broad.mit.edu	37	12	8988145	8988145	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:8988145C>T	uc001quz.3	+	6	624	c.526C>T	c.(526-528)CCT>TCT	p.P176S		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	20						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGAAGTGGTACCTGAGCAAGG	0.527		NaN											0	0	0	0.006122	0	17	53				
A2M	2	broad.mit.edu	37	12	9232332	9232332	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:9232332G>C	uc001qvk.1	-	24	3047	c.2934C>G	c.(2932-2934)GTC>GTG	p.V978V	A2M_uc001qvj.1_Silent_p.V20V|A2M_uc009zgk.1_Silent_p.V828V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	978					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGCAAAGAGGACCATATTCT	0.453		NaN											0	0	0	0.001984	0	5	7				
GPR19	2842	broad.mit.edu	37	12	12814505	12814505	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:12814505T>C	uc001rar.3	-	2	1071	c.878A>G	c.(877-879)CAT>CGT	p.H293R	GPR19_uc001raq.2_Missense_Mutation_p.H293R	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	293	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CTGAGCTACATGAAAAGGCAG	0.408		NaN											0	0	0	0.004482	0	9	23				
PLEKHA9	51054	broad.mit.edu	37	12	45567437	45567437	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:45567437A>G	uc001rom.1	-	3	1249	c.712T>C	c.(712-714)TTT>CTT	p.F238L	PLEKHA9_uc009zke.2_Missense_Mutation_p.F238L	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		ACAGGAGCAAACACTGTAGGG	0.393		NaN											0	0	0	0.01441	0	70	70				
ESPL1	9700	broad.mit.edu	37	12	53670542	53670542	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:53670542G>A	uc001sck.2	+	8	1930	c.1839G>A	c.(1837-1839)CTG>CTA	p.L613L	ESPL1_uc001scj.2_Silent_p.L288L|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	613					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TCCTGGAGCTGAGCCCCGAGG	0.642		NaN											0	0	0	0.003163	0	15	52				
MMP19	4327	broad.mit.edu	37	12	56236139	56236139	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:56236139C>A	uc001sib.2	-	2	292	c.171G>T	c.(169-171)CTG>CTT	p.L57L	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.L57L	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	57					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						CTTCTCACCTCAGAGCCTCGG	0.502		NaN											1	0	1.64293e-13	0.00333	1.79891e-13	24	74				
LRP1	4035	broad.mit.edu	37	12	57550039	57550039	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57550039A>G	uc001snd.2	+	9	1856	c.1390A>G	c.(1390-1392)ATC>GTC	p.I464V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	464	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCCTCCACATCTACCACCA	0.607		NaN											0	0	0	0.00308	0	8	39				
GLI1	2735	broad.mit.edu	37	12	57865459	57865459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57865459A>G	uc001snx.2	+	12	3014	c.2936A>G	c.(2935-2937)AAT>AGT	p.N979S	GLI1_uc009zpq.2_Missense_Mutation_p.N851S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	979					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGGGGGCAAATAGGGCTTCA	0.537		NaN											0	0	0	0.004656	0	27	86				
E2F7	144455	broad.mit.edu	37	12	77458337	77458337	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:77458337C>G	uc001sym.3	-	2	315	c.79G>C	c.(79-81)GAA>CAA	p.E27Q	E2F7_uc001syn.2_Missense_Mutation_p.E27Q	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	27					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TGTGCATTTTCCCCATCTTCA	0.373		NaN											0	0	0	0.010504	0	19	58				
KERA	11081	broad.mit.edu	37	12	91449916	91449916	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:91449916C>G	uc001tbl.2	-	2	762	c.143G>C	c.(142-144)TGC>TCC	p.C48S		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	48	LRRNT.|Cys-rich.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						ACTGGGTGGGCAGAAACATTC	0.393		NaN											0	0	0	0.000602	0	4	6				
IKBIP	121457	broad.mit.edu	37	12	99038453	99038453	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:99038453C>A	uc001tfv.2	-	1	137	c.27G>T	c.(25-27)AAG>AAT	p.K9N	APAF1_uc001tfy.2_5'Flank|APAF1_uc001tfz.2_5'Flank|APAF1_uc001tga.2_5'Flank|APAF1_uc001tgb.2_5'Flank|APAF1_uc001tgc.2_5'Flank|IKBIP_uc001tfw.2_Missense_Mutation_p.K9N|IKBIP_uc001tfx.2_Missense_Mutation_p.K9N	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	9					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TGGGCCCCGACTTCTTCCGGC	0.706		NaN											1	0	1.05317e-09	0.00245	1.13167e-09	12	34				
UTP20	27340	broad.mit.edu	37	12	101745949	101745949	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101745949G>C	uc001tia.1	+	39	5157	c.5001G>C	c.(4999-5001)CAG>CAC	p.Q1667H		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1667					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AAACGGGACAGATCAATCAAA	0.299		NaN											0	0	0	0.001855	0	12	43				
UTP20	27340	broad.mit.edu	37	12	101760349	101760349	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101760349C>T	uc001tia.1	+	47	6295	c.6139C>T	c.(6139-6141)CCA>TCA	p.P2047S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2047					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TCCAGTAGCCCCAGCACCAGA	0.512		NaN											0	0	0	0.01441	0	45	39				
DNAH10	196385	broad.mit.edu	37	12	124341734	124341734	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:124341734C>T	uc001uft.3	+	36	6241	c.6216C>T	c.(6214-6216)GAC>GAT	p.D2072D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2072					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACCCTGACTTCAACGATG	0.532		NaN											0	0	0	0.00499	0	17	54				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs28513925	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.294		NaN											0	0	0	0.004672	0	3	55				
FAM124A	220108	broad.mit.edu	37	13	51855235	51855235	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:51855235G>T	uc001vfg.1	+	4	1615	c.1484G>T	c.(1483-1485)CGT>CTT	p.R495L	FAM124A_uc001vff.1_Missense_Mutation_p.R531L	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	495										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCGACAGCTCGTGCTGCTCCC	0.612		NaN											1	0	1.39806e-14	0.008361	1.54545e-14	28	46				
ABCC4	10257	broad.mit.edu	37	13	95840790	95840790	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:95840790C>T	uc001vmd.3	-	10	1389	c.1270G>A	c.(1270-1272)GAG>AAG	p.E424K	ABCC4_uc010afk.2_Missense_Mutation_p.E424K|ABCC4_uc001vme.2_Missense_Mutation_p.E424K|ABCC4_uc010tih.1_Missense_Mutation_p.E349K|ABCC4_uc001vmf.2_Missense_Mutation_p.E381K|ABCC4_uc010afl.1_Missense_Mutation_p.E381K|ABCC4_uc010afm.1_Missense_Mutation_p.E437K	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	424	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTTGGGGTCTCTGATGCCTAC	0.418		NaN											0	0	0	0.00333	0	25	49				
AP1G2	8906	broad.mit.edu	37	14	24029009	24029009	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24029009C>T	uc001wkl.2	-	22	2644	c.2307G>A	c.(2305-2307)TCG>TCA	p.S769S	AP1G2_uc001wkj.2_Silent_p.S388S|AP1G2_uc001wkk.3_Silent_p.S697S|AP1G2_uc001wkn.2_Silent_p.S388S|uc001wko.1_5'Flank	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	769	GAE.				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCTCCTGCACCGACTGGTGAA	0.562		NaN									OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	9	39				
NYNRIN	57523	broad.mit.edu	37	14	24884981	24884981	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24884981C>T	uc001wpf.3	+	9	4344	c.4026C>T	c.(4024-4026)TCC>TCT	p.S1342S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1342					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TCTCCCTTTCCTTCTCCTGCT	0.607		NaN											0	0	0	0.01441	0	96	122				
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:38061313C>T	uc001wuf.2	-	2	988	c.676G>A	c.(676-678)GAC>AAC	p.D226N	FOXA1_uc010tpz.1_Missense_Mutation_p.D193N	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	226	Fork-head.				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607		NaN											0	0	0	0.00874	0	35	30		Valid		
NIN	51199	broad.mit.edu	37	14	51224125	51224125	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:51224125A>T	uc001wym.2	-	18	3814	c.3623T>A	c.(3622-3624)ATG>AAG	p.M1208K	NIN_uc001wyi.2_Missense_Mutation_p.M1208K|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.M1214K|NIN_uc001wyo.2_Missense_Mutation_p.M1208K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1208	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ACATAACATCATTAGCTGTTC	0.418		NaN	T	PDGFRB	MPD								0	0	0	0.01441	0	51	80				
KTN1	3895	broad.mit.edu	37	14	56107858	56107858	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:56107858G>C	uc001xcb.2	+	18	2337	c.2035G>C	c.(2035-2037)GAT>CAT	p.D679H	KTN1_uc001xce.2_Missense_Mutation_p.D679H|KTN1_uc001xcc.2_Missense_Mutation_p.D679H|KTN1_uc001xcd.2_Missense_Mutation_p.D679H|KTN1_uc010trb.1_Missense_Mutation_p.D679H|KTN1_uc001xcf.1_Missense_Mutation_p.D679H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	679	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TTATGTTAAAGATGATAAAAT	0.303		NaN	T	RET	papillary thryoid								0	0	0	0.001984	0	7	14				
C14orf37	145407	broad.mit.edu	37	14	58605192	58605192	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605192T>G	uc001xdc.2	-	2	996	c.885A>C	c.(883-885)GAA>GAC	p.E295D	C14orf37_uc010tro.1_Missense_Mutation_p.E333D|C14orf37_uc001xdd.2_Missense_Mutation_p.E295D|C14orf37_uc001xde.2_Missense_Mutation_p.E295D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	295	Extracellular (Potential).					integral to membrane	binding				0						TCACTGTGACTTCTGGGGCTC	0.532		NaN											0	0	0	0.00874	0	44	69				
C14orf37	145407	broad.mit.edu	37	14	58605935	58605935	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605935C>A	uc001xdc.2	-	2	253	c.142G>T	c.(142-144)GAT>TAT	p.D48Y	C14orf37_uc010tro.1_Missense_Mutation_p.D86Y|C14orf37_uc001xdd.2_Missense_Mutation_p.D48Y|C14orf37_uc001xde.2_Missense_Mutation_p.D48Y	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	48	Extracellular (Potential).					integral to membrane	binding				0						TTCATCTTATCGGACTGCCCT	0.478		NaN											1	0	1.42676e-28	0.01441	1.64553e-28	62	106				
ACOT2	10965	broad.mit.edu	37	14	74040235	74040235	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:74040235G>C	uc001xon.3	+	2	960	c.787G>C	c.(787-789)GAG>CAG	p.E263Q	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Missense_Mutation_p.E66Q	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	263					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CAAGACCATGGAGACGCTCCA	0.488		NaN											0	0	0	0.01441	0	60	101				
ANGEL1	23357	broad.mit.edu	37	14	77273074	77273074	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:77273074G>T	uc001xsv.2	-	5	1178	c.1065C>A	c.(1063-1065)GGC>GGA	p.G355G	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	355										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTAGCTCCAAGCCAGGCCGGA	0.572		NaN											1	0	1.73998e-50	0.01441	2.02705e-50	108	130				
C15orf55	256646	broad.mit.edu	37	15	34648800	34648800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:34648800G>A	uc001zif.2	+	7	2662	c.2507G>A	c.(2506-2508)TGG>TAG	p.W836*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.W864*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.W854*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	836						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGTGATCTGTGGGCAGAAGGT	0.517		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.00499	0	14	36				
SLC30A4	7782	broad.mit.edu	37	15	45814250	45814250	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:45814250C>T	uc001zvj.2	-	2	615	c.303G>A	c.(301-303)CAG>CAA	p.Q101Q	C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	101	Cytoplasmic (Potential).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTATCTCTCTCTGTTTGCTGC	0.478		NaN											0	0	0	0.005524	0	36	87				
AP4E1	23431	broad.mit.edu	37	15	51289630	51289630	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:51289630T>A	uc001zyx.1	+	18	2484	c.2454T>A	c.(2452-2454)TTT>TTA	p.F818L	AP4E1_uc010bex.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	818					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTCTTCCTTTAGTTCTTTGT	0.353		NaN											0	0	0	0.000602	0	4	13				
SMAD3	4088	broad.mit.edu	37	15	67479786	67479786	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:67479786C>A	uc002aqj.2	+	8	1391	c.1093C>A	c.(1093-1095)CAG>AAG	p.Q365K	SMAD3_uc010ujr.1_Missense_Mutation_p.Q260K|SMAD3_uc010ujs.1_Missense_Mutation_p.Q321K|SMAD3_uc010ujt.1_Missense_Mutation_p.Q170K	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	365	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGCTGTCTACCAGTTGACCCG	0.557		NaN											1	0	6.60958e-23	0.01441	7.52274e-23	59	34				
ALPK3	57538	broad.mit.edu	37	15	85401422	85401422	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:85401422C>T	uc002ble.2	+	6	4226	c.4059C>T	c.(4057-4059)CTC>CTT	p.L1353L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1353					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGACAGGTCTCCCGGCAGCTA	0.642		NaN											0	0	0	0.000602	0	3	14				
USP31	57478	broad.mit.edu	37	16	23083506	23083506	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:23083506G>A	uc002dll.2	-	15	2348	c.2348C>T	c.(2347-2349)TCT>TTT	p.S783F	USP31_uc002dlk.2_Missense_Mutation_p.S55F|USP31_uc010vca.1_Missense_Mutation_p.S86F|USP31_uc010bxm.2_Missense_Mutation_p.S71F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	783	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		ACACAGGGAAGAACTTGTGGA	0.622		NaN											0	0	0	0.007413	0	20	27				
TNRC6A	27327	broad.mit.edu	37	16	24802570	24802570	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:24802570C>T	uc002dmm.2	+	6	2721	c.2607C>T	c.(2605-2607)GCC>GCT	p.A869A	TNRC6A_uc010bxs.2_Silent_p.A616A|TNRC6A_uc010vcc.1_Silent_p.A616A|TNRC6A_uc002dmn.2_Silent_p.A616A|TNRC6A_uc002dmo.2_Silent_p.A616A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463		NaN											0	0	0	0.000602	0	5	48				
APOB48R	55911	broad.mit.edu	37	16	28509168	28509168	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:28509168G>C	uc002dqb.1	+	3	2789	c.2779G>C	c.(2779-2781)GAG>CAG	p.E927Q	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E465Q	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	927	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						CAAGGAGACTGAGCCAGAAAG	0.662		NaN											0	0	0	0.001984	0	7	10				
CORO1A	11151	broad.mit.edu	37	16	30199868	30199868	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:30199868G>A	uc002dww.2	+	10	1374	c.1252G>A	c.(1252-1254)GCA>ACA	p.A418T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.A418T|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.A312T|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	418					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CAGGAGGGCAGCACCAGAGGC	0.657		NaN											0	0	0	0.012319	0	21	16				
POLR2C	5432	broad.mit.edu	37	16	57504205	57504205	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:57504205T>C	uc002elt.1	+	8	708	c.622T>C	c.(622-624)TAC>CAC	p.Y208H		NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	208					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						AAAGAGTGAGTACTCGGAGCT	0.547		NaN											0	0	0	0.008291	0	10	14				
CIRH1A	84916	broad.mit.edu	37	16	69199282	69199282	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:69199282T>C	uc002ews.3	+	15	1782	c.1686T>C	c.(1684-1686)GAT>GAC	p.D562D	CIRH1A_uc002ewr.2_Silent_p.D562D|CIRH1A_uc002ewt.3_Silent_p.D479D|CIRH1A_uc010cfi.2_Silent_p.D364D	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	562	WD 11.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGTATACAGATTGGAGCCGGA	0.488		NaN											0	0	0	0.003755	0	32	44				
RFWD3	55159	broad.mit.edu	37	16	74695239	74695239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:74695239G>A	uc002fda.2	-	2	207	c.109C>T	c.(109-111)CAG>TAG	p.Q37*	RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q37*	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	37					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						GGAACAGGCTGGAGGAGGGCT	0.587		NaN											0	0	0	0.01441	0	93	124				
CLEC3A	10143	broad.mit.edu	37	16	78064707	78064707	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:78064707G>C	uc002ffh.3	+	3	644	c.563G>C	c.(562-564)AGA>ACA	p.R188T		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	188	C-type lectin.				skeletal system development	extracellular region	sugar binding				0						AGCAGCAAGAGATACATATGC	0.483		NaN											0	0	0	0.00308	0	7	41				
IL17C	27189	broad.mit.edu	37	16	88706293	88706293	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:88706293A>C	uc002fla.2	+	3	456	c.407A>C	c.(406-408)GAT>GCT	p.D136A		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	136					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGCTGTATCGATGCACGGACG	0.687		NaN											0	0	0	0.008291	0	11	9				
ZNF778	197320	broad.mit.edu	37	16	89294114	89294114	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89294114G>C	uc002fmv.2	+	6	1673	c.1334G>C	c.(1333-1335)GGA>GCA	p.G445A	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G403A|ZNF778_uc010vpg.1_Missense_Mutation_p.G208A	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCACACTGGAGAGAAACCA	0.493		NaN											0	0	0	0.01441	0	52	63				
ANKRD11	29123	broad.mit.edu	37	16	89346334	89346334	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89346334C>G	uc002fmx.1	-	9	7077	c.6616G>C	c.(6616-6618)GAG>CAG	p.E2206Q	ANKRD11_uc002fmy.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E2163Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2206	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTGAGGGCTCAGGCTCGAGC	0.672		NaN											0	0	0	0.004482	0	8	18				
ANKRD11	29123	broad.mit.edu	37	16	89357082	89357082	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357082G>A	uc002fmx.1	-	6	1013	c.552C>T	c.(550-552)ATC>ATT	p.I184I	ANKRD11_uc002fmy.1_Silent_p.I184I|ANKRD11_uc002fnc.1_Silent_p.I184I|ANKRD11_uc002fnd.2_Silent_p.I150I|ANKRD11_uc002fne.2_Silent_p.I150I|ANKRD11_uc002fnb.1_Silent_p.I141I	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	184	ANK 1.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAGCTCTTTGATGCGCCGGG	0.622		NaN											0	0	0	0.01441	0	40	59				
ANKRD11	29123	broad.mit.edu	37	16	89357086	89357086	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357086C>T	uc002fmx.1	-	6	1009	c.548G>A	c.(547-549)CGC>CAC	p.R183H	ANKRD11_uc002fmy.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnc.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnd.2_Missense_Mutation_p.R149H|ANKRD11_uc002fne.2_Missense_Mutation_p.R149H|ANKRD11_uc002fnb.1_Missense_Mutation_p.R140H	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	183	ANK 1.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCTTTGATGCGCCGGGCGTC	0.627		NaN											0	0	0	0.01441	0	41	59				
FANCA	2175	broad.mit.edu	37	16	89857865	89857865	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89857865G>C	uc002fou.1	-	14	1347	c.1305C>G	c.(1303-1305)CGC>CGG	p.R435R	FANCA_uc010vpn.1_Silent_p.R435R	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	435			R -> C (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGCTGCCTGGCGCACAACCA	0.552		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.007413	0	18	18				
MYO1C	4641	broad.mit.edu	37	17	1381474	1381474	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:1381474G>A	uc002fsp.2	-	12	1528	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	MYO1C_uc002fsn.2_Silent_p.F417F|MYO1C_uc002fso.2_Silent_p.F401F|MYO1C_uc010vqj.1_Silent_p.F401F|MYO1C_uc010vqk.1_Silent_p.F412F	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	436	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AATTGATGCAGAACTGCTCAA	0.582		NaN											0	0	0	0.009535	0	32	14				
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:7578478G>T	uc002gim.2	-	5	646	c.452C>A	c.(451-453)CCC>CAC	p.P151H	TP53_uc002gig.1_Missense_Mutation_p.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGGCGGGGGTGTGGAATC	0.607		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	7.92952e-12	0.003954	8.5738e-12	23	8		Valid		
MYH3	4621	broad.mit.edu	37	17	10542927	10542927	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:10542927C>T	uc002gmq.1	-	22	2952	c.2875G>A	c.(2875-2877)GAG>AAG	p.E959K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	959	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						AGGGTCAACTCAAGGTCATCA	0.453		NaN											0	0	0	0.01441	0	127	56				
NEK8	284086	broad.mit.edu	37	17	27065197	27065197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065197G>A	uc002hcp.2	+	8	1156	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	386						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GCGTTTCCTGGAGGGCCAGTC	0.657		NaN											0	0	0	0.007413	0	16	31				
NEK8	284086	broad.mit.edu	37	17	27065214	27065214	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065214G>A	uc002hcp.2	+	8	1173	c.1173G>A	c.(1171-1173)GTG>GTA	p.V391V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	391						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AGTCGGGTGTGACCATCAAGC	0.642		NaN											0	0	0	0.010504	0	19	33				
PSMD11	5717	broad.mit.edu	37	17	30800897	30800897	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:30800897C>G	uc010cta.1	+	7	762	c.722C>G	c.(721-723)TCC>TGC	p.S241C	PSMD11_uc010wbz.1_Missense_Mutation_p.S241C|PSMD11_uc002hhm.2_Missense_Mutation_p.S241C	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	241	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTTATGACTCCATCGACAGC	0.453		NaN											0	0	0	0.009096	0	4	73				
MLLT6	4302	broad.mit.edu	37	17	36872640	36872640	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:36872640C>G	uc002hqi.3	+	10	1070	c.1057C>G	c.(1057-1059)CCT>GCT	p.P353A	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	353					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GCAGAGCTCCCCTGACTTCTC	0.622		NaN	T	MLL	AL								0	0	0	0.007413	0	18	28				
KRT39	390792	broad.mit.edu	37	17	39116697	39116697	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:39116697C>T	uc002hvo.1	-	6	1089	c.1053G>A	c.(1051-1053)CTG>CTA	p.L351L	KRT39_uc010wfm.1_Silent_p.L84L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	351	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				GGATCTGGGTCAGCAAGGCCG	0.502		NaN											0	0	0	0.01441	0	45	85				
CD300LG	146894	broad.mit.edu	37	17	41925958	41925958	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:41925958A>T	uc002iem.2	+	2	117	c.76A>T	c.(76-78)AGC>TGC	p.S26C	CD300LG_uc002iek.1_Missense_Mutation_p.S26C|CD300LG_uc002iel.1_Missense_Mutation_p.S26C|CD300LG_uc010czk.2_Missense_Mutation_p.S26C|CD300LG_uc010wil.1_Missense_Mutation_p.S26C|CD300LG_uc010czl.2_Missense_Mutation_p.S26C	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	26	Extracellular (Potential).|Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGAGGAAATCAGCGGGTTCGA	0.562		NaN											0	0	0	0.004289	0	35	55				
GPATCH8	23131	broad.mit.edu	37	17	42475276	42475276	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:42475276G>A	uc002igw.1	-	8	4233	c.4169C>T	c.(4168-4170)GCC>GTC	p.A1390V	GPATCH8_uc002igv.1_Missense_Mutation_p.A1312V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1312V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1390	Poly-Ala.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATGCCGATGGCGGCAGCAGC	0.577		NaN											0	0	0	0.001984	0	6	38				
CLTC	1213	broad.mit.edu	37	17	57754351	57754351	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:57754351T>A	uc002ixq.1	+	17	3041	c.2598T>A	c.(2596-2598)ATT>ATA	p.I866I	CLTC_uc002ixp.2_Silent_p.I866I|CLTC_uc002ixr.1_Silent_p.I870I	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	866	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGGCCAGAATTCATGAGGGCT	0.408		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	0.00308	0	8	14				
CSH2	1443	broad.mit.edu	37	17	61949641	61949641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61949641G>A	uc002jch.2	-	5	614	c.499C>T	c.(499-501)CAG>TAG	p.Q167*	CSH2_uc002jcg.2_Nonsense_Mutation_p.Q72*|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Silent_p.S165S|CSH2_uc002jck.2_Nonsense_Mutation_p.Q167*	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	167					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						CTGTAGGTCTGCTTGAGGATC	0.557		NaN											0	0	0	0.01441	0	76	106				
CSH2	1443	broad.mit.edu	37	17	61950572	61950572	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61950572C>T	uc002jch.2	-	2	253	c.138G>A	c.(136-138)GCG>GCA	p.A46A	CSH2_uc002jcg.2_Silent_p.A46A|CSH2_uc002jci.2_Silent_p.A46A|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.A46A	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	46					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						CCAGCTGGTGCGCGCGATGGG	0.592		NaN											0	0	0	0.006999	0	21	112				
SCN4A	6329	broad.mit.edu	37	17	62018842	62018842	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:62018842G>T	uc002jds.1	-	24	4877	c.4800C>A	c.(4798-4800)AAC>AAA	p.N1600K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1600					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CCACATTGAAGTTCTCCAGGA	0.532		NaN											1	0	1.57351e-24	0.003755	1.79682e-24	33	55				
PSMD12	5718	broad.mit.edu	37	17	65353674	65353674	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:65353674G>A	uc002jfy.2	-	2	215	c.129C>T	c.(127-129)GTC>GTT	p.V43V	PSMD12_uc002jga.2_Intron|PSMD12_uc002jfz.2_5'UTR|PSMD12_uc010det.1_Silent_p.V43V	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GGGTTTCAATGACTTCTTGAA	0.333		NaN											0	0	0	0.004289	0	35	139				
RNF213	57674	broad.mit.edu	37	17	78320135	78320135	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:78320135C>G	uc002jyh.1	+	4	2442	c.2219C>G	c.(2218-2220)TCC>TGC	p.S740C		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCTTTCTCTCCAAGTCCAGC	0.532		NaN											0	0	0	0.007413	0	20	59				
B3GNTL1	146712	broad.mit.edu	37	17	81006550	81006550	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:81006550T>C	uc002kgg.1	-	2	186	c.172A>G	c.(172-174)AGT>GGT	p.S58G	B3GNTL1_uc002kgf.1_5'UTR	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal	58							transferase activity, transferring glycosyl groups			ovary(1)|pancreas(1)	2	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CAAACCTTACTGGCATCATTG	0.507		NaN											0	0	0	0.01441	0	49	49				
C18orf8	29919	broad.mit.edu	37	18	21110004	21110004	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:21110004G>A	uc010xax.1	+	18	1628	c.1507G>A	c.(1507-1509)GAA>AAA	p.E503K	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.E127K|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	503	Mic1.									ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACCTACATGAACTTGTTAT	0.433		NaN											0	0	0	0.01441	0	193	158				
MEP1B	4225	broad.mit.edu	37	18	29797898	29797898	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797898C>T	uc002kxj.3	+	14	2108	c.2061C>T	c.(2059-2061)AGC>AGT	p.S687S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	687	Cytoplasmic (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AAAGGATGAGCTCAAATCGAC	0.398		NaN											0	0	0	0.000602	0	4	22				
MEP1B	4225	broad.mit.edu	37	18	29797900	29797900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797900C>A	uc002kxj.3	+	14	2110	c.2063C>A	c.(2062-2064)TCA>TAA	p.S688*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	688	Cytoplasmic (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGGATGAGCTCAAATCGACCA	0.393		NaN											1	0	2.56e-06	0.009096	2.68412e-06	3	22				
C18orf22	79863	broad.mit.edu	37	18	77802217	77802217	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:77802217G>A	uc002lns.2	+	5	712	c.574G>A	c.(574-576)GAG>AAG	p.E192K	C18orf22_uc010drh.2_Intron|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.E25K	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	192					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		AGCTCTAGCTGAGGTAAGGTT	0.289		NaN											0	0	0	0.010729	0	11	24				
RAX2	84839	broad.mit.edu	37	19	3771575	3771575	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:3771575T>G	uc002lys.2	-	2	234	c.166A>C	c.(166-168)AGC>CGC	p.S56R	RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Missense_Mutation_p.S102R	NM_032753	NP_116142	Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56	Homeobox.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCACGGCTGTACACATCC	0.637		NaN											0	0	0	0.010729	0	12	0				
PLIN4	729359	broad.mit.edu	37	19	4512576	4512576	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:4512576T>C	uc002mar.1	-	3	1354	c.1354A>G	c.(1354-1356)AAG>GAG	p.K452E	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	452	11.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0						ACAGTGTCCTTGGTACCAGTT	0.577		NaN											0	0	0	0.01441	0	91	24				
LONP1	9361	broad.mit.edu	37	19	5696709	5696709	+	Missense_Mutation	SNP	G	G	A	rs140317309		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:5696709G>A	uc002mcx.2	-	11	1778	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M	LONP1_uc002mcy.2_Missense_Mutation_p.T518M|LONP1_uc010duh.2_Missense_Mutation_p.T323M|LONP1_uc010dui.2_Missense_Mutation_p.T566M|LONP1_uc002mcz.2_Missense_Mutation_p.T386M	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	582					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GGGGTTCTCCGTCTTGGTCTT	0.632		NaN											0	0	0	0.008361	0	28	10				
DNM2	1785	broad.mit.edu	37	19	10883300	10883300	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:10883300A>G	uc002mps.1	+	3	545	c.381A>G	c.(379-381)CCA>CCG	p.P127P	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P127P|DNM2_uc002mpv.1_Silent_p.P127P|DNM2_uc002mpu.1_Silent_p.P127P|DNM2_uc010dxl.1_Silent_p.P127P	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	127					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTACTCGCCACACGGTAGGC	0.562		NaN											0	0	0	0.006122	0	17	11				
CC2D1A	54862	broad.mit.edu	37	19	14038827	14038827	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:14038827C>T	uc002mxo.2	+	23	2737	c.2438C>T	c.(2437-2439)CCG>CTG	p.P813L	CC2D1A_uc002mxp.2_Missense_Mutation_p.P813L|CC2D1A_uc010dzh.2_Missense_Mutation_p.P382L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	813					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GACCCTGTGCCGGCAGCTGTG	0.637		NaN											0	0	0	0.01441	0	52	24				
HNRNPUL1	11100	broad.mit.edu	37	19	41770556	41770556	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:41770556G>A	uc002oqb.3	+	1	437	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	50	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						GGAGCTCGACGCCGACGACGA	0.746		NaN											0	0	0	0.001168	0	5	19				
C19orf61	56006	broad.mit.edu	37	19	44251840	44251840	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:44251840A>G	uc002oxj.2	-	4	778	c.435T>C	c.(433-435)CCT>CCC	p.P145P	C19orf61_uc002oxk.2_Silent_p.P145P|C19orf61_uc010eiy.1_Silent_p.P145P	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	145					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				TCTGGTACACAGGCTGTGTGG	0.677		NaN											0	0	0	0.001168	0	6	18				
ERCC2	2068	broad.mit.edu	37	19	45855787	45855787	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:45855787C>T	uc002pbj.2	-	21	2070	c.2023G>A	c.(2023-2025)GGC>AGC	p.G675S	ERCC2_uc002pbh.2_Missense_Mutation_p.G238S|ERCC2_uc002pbi.2_Missense_Mutation_p.G368S|ERCC2_uc010ejz.2_Missense_Mutation_p.G597S|ERCC2_uc002pbk.2_Missense_Mutation_p.G651S	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	675			G -> R (in XP-D/CS; severe form).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCATGAGGCCGTAGTCCGTC	0.597		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.004878	0	38	44		Valid		
EML2	24139	broad.mit.edu	37	19	46141892	46141893	+	Splice_Site	DNP	TC	TC	AA			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:46141892_46141893TC>AA	uc002pcn.2	-	3	85	c.50_splice	c.e3-1	p.E17_splice	EML2_uc002pco.2_Splice_Site|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Splice_Site_p.E164_splice|EML2_uc010xxm.1_Splice_Site_p.E218_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.1_Splice_Site_p.E17_splice|EML2_uc010ekj.2_Splice_Site_p.E17_splice	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like						sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGAGCCATCCTCTGCCAGGACA	0.559		NaN											0	0	0	0.004672	0	22	90				
ZNF320	162967	broad.mit.edu	37	19	53384401	53384401	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:53384401C>T	uc002qag.2	-	4	1169	c.978G>A	c.(976-978)GAG>GAA	p.E326E	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.E272E|ZNF320_uc002qai.2_Silent_p.E326E	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TGTAAGGTTTCTCTCCAGTGT	0.403		NaN											0	0	0	0.012319	0	23	43				
LAIR2	3904	broad.mit.edu	37	19	55014120	55014121	+	Translation_Start_Site	DNP	TC	TC	AA			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:55014120_55014121TC>AA	uc002qgc.2	+	1	108_109	c.-14_-13TC>AA	c.(-16--11)GTTCTG>GTAATG		LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Translation_Start_Site|LAIR2_uc010erl.2_Translation_Start_Site	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like							extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCTGCAGAGTTCTGGGACCGGG	0.629		NaN											0	0	0	0.004672	0	11	72				
NLRP9	338321	broad.mit.edu	37	19	56243884	56243884	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:56243884C>G	uc002qly.2	-	2	1341	c.1313G>C	c.(1312-1314)GGG>GCG	p.G438A		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	438	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACAGTCCCCTCTCCTTTG	0.483		NaN											0	0	0	0.01441	0	73	87				
NT5C1B	93034	broad.mit.edu	37	2	18764238	18764238	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:18764238A>T	uc002rcz.2	-	7	1201	c.1097T>A	c.(1096-1098)CTC>CAC	p.L366H	NT5C1B_uc002rcy.2_Missense_Mutation_p.L366H|NT5C1B_uc010exr.2_Missense_Mutation_p.L308H|NT5C1B_uc010yju.1_Missense_Mutation_p.L306H|NT5C1B_uc002rda.2_Missense_Mutation_p.L306H|NT5C1B_uc010yjv.1_Missense_Mutation_p.L383H|NT5C1B_uc010yjw.1_Missense_Mutation_p.L349H|NT5C1B_uc010exs.2_Missense_Mutation_p.L368H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	366					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TAGATCACGGAGTCTAGCATT	0.473		NaN											0	0	0	0.004482	0	8	39				
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:20647740G>A	uc002rdv.2	+	1	906	c.514G>A	c.(514-516)GAG>AAG	p.E172K		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687		NaN											0	0	0	0.01441	0	58	75		Valid		
XDH	7498	broad.mit.edu	37	2	31562461	31562461	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:31562461C>T	uc002rnv.1	-	34	3747	c.3668G>A	c.(3667-3669)CGT>CAT	p.R1223H		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1223					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTAGGGCCACGGGTGTGCAG	0.597		NaN											0	0	0	0.003271	0	35	56				
BIRC6	57448	broad.mit.edu	37	2	32626345	32626345	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:32626345T>C	uc010ezu.2	+	7	1283	c.1149T>C	c.(1147-1149)GAT>GAC	p.D383D		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	383					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTTGTACGGATGGAACTGACA	0.473		NaN											0	0	0	0.01441	0	85	130				
SLC8A1	6546	broad.mit.edu	37	2	40656252	40656252	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:40656252G>A	uc002rrx.2	-	1	1193	c.1169C>T	c.(1168-1170)GCT>GTT	p.A390V	SLC8A1_uc002rry.2_Missense_Mutation_p.A390V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A390V|SLC8A1_uc002rsb.1_Missense_Mutation_p.A390V|SLC8A1_uc010fan.1_Missense_Mutation_p.A390V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A390V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	390	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATGCTGACAGCCTTCCTTGC	0.453		NaN											0	0	0	0.006214	0	8	15				
CYP26B1	56603	broad.mit.edu	37	2	72371249	72371249	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:72371249C>T	uc002sih.1	-	2	298	c.298G>A	c.(298-300)GAG>AAG	p.E100K	CYP26B1_uc010yra.1_Missense_Mutation_p.E83K|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	100					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						CGCACGTTCTCCGCGCCGGTC	0.637		NaN											0	0	0	0.012213	0	35	59				
MTHFD2	10797	broad.mit.edu	37	2	74432979	74432979	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:74432979C>G	uc002skk.2	+	2	328	c.249C>G	c.(247-249)TCC>TCG	p.S83S	MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Silent_p.S83S|MTHFD2_uc010yrp.1_Intron	NM_006636	NP_006627	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase 2	83					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding				0					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAAGTCACTCCTATGTCCTCA	0.532		NaN											0	0	0	0.01441	0	41	56				
KDM3A	55818	broad.mit.edu	37	2	86669240	86669240	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:86669240G>A	uc002sri.3	+	2	397	c.70G>A	c.(70-72)GAC>AAC	p.D24N	KDM3A_uc010ytj.1_Missense_Mutation_p.D24N|KDM3A_uc010ytk.1_Missense_Mutation_p.D24N	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	24				D -> G (in Ref. 2; CAH18459/CAH18373).	androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTCCGCAGCCGACGGCAGCGA	0.642		NaN											0	0	0	0.004289	0	37	50				
EIF2AK3	9451	broad.mit.edu	37	2	88885403	88885403	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:88885403T>C	uc002stc.3	-	9	1808	c.1606A>G	c.(1606-1608)ACA>GCA	p.T536A		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	536	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATAAACGTTGTTGCTATGATA	0.343		NaN											0	0	0	0.00499	0	14	16				
SEMA4C	54910	broad.mit.edu	37	2	97533612	97533612	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:97533612G>A	uc002sxh.3	-	2	172	c.12C>T	c.(10-12)CAC>CAT	p.H4H	SEMA4C_uc002sxg.3_5'Flank	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	4					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						AGACAGCCCAGTGTGGGGCCA	0.617		NaN											0	0	0	0.01441	0	61	96				
SULT1C4	27233	broad.mit.edu	37	2	108998923	108998923	+	Silent	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:108998923A>T	uc002tea.1	+	3	751	c.378A>T	c.(376-378)CTA>CTT	p.L126L	SULT1C4_uc002tdz.2_3'UTR|SULT1C4_uc010ywr.1_Intron|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						CATCCTTGCTAGAGAAAAACT	0.403		NaN											0	0	0	0.01441	0	102	140				
RANBP2	5903	broad.mit.edu	37	2	109382445	109382445	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:109382445C>T	uc002tem.3	+	20	5576	c.5450C>T	c.(5449-5451)GCT>GTT	p.A1817V		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1817					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATTGCAGAAGCTCCTTCAGCT	0.408		NaN											0	0	0	0.001168	0	6	34				
ANAPC1	64682	broad.mit.edu	37	2	112588951	112588951	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:112588951T>G	uc002thi.2	-	21	2784	c.2537A>C	c.(2536-2538)CAG>CCG	p.Q846P		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	846					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						ACTCACCCACTGATAAATACT	0.383		NaN											0	0	0	0.00278	0	19	32				
MBD5	55777	broad.mit.edu	37	2	149225912	149225912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:149225912G>C	uc002twm.3	+	9	1388	c.400G>C	c.(400-402)GCA>CCA	p.A134P	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.A134P|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	134						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACATCAGATGCAACTCCAGT	0.284		NaN											0	0	0	0.009096	0	4	5				
COBLL1	22837	broad.mit.edu	37	2	165551575	165551575	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:165551575G>C	uc010zcw.1	-	15	2766	c.2642C>G	c.(2641-2643)ACT>AGT	p.T881S	COBLL1_uc002ucp.2_Missense_Mutation_p.T814S|COBLL1_uc002ucq.2_Missense_Mutation_p.T776S|COBLL1_uc010zcx.1_Missense_Mutation_p.T822S|COBLL1_uc002ucn.2_Missense_Mutation_p.T242S|COBLL1_uc002uco.2_Missense_Mutation_p.T545S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	852										ovary(2)|pancreas(1)	3						TTGGATGGCAGTTTCTTTCAC	0.428		NaN											0	0	0	0.00278	0	25	30				
C2orf77	129881	broad.mit.edu	37	2	170505817	170505817	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:170505817C>T	uc002ufe.2	-	8	1286	c.1192G>A	c.(1192-1194)GAG>AAG	p.E398K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	398	Potential.										0						TCTTTAGCCTCTATTTTTCTT	0.343		NaN											0	0	0	0.00245	0	12	30				
SLC25A12	8604	broad.mit.edu	37	2	172669944	172669944	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:172669944C>A	uc002uhh.2	-	11	1165	c.1076G>T	c.(1075-1077)GGC>GTC	p.G359V	SLC25A12_uc010fqh.2_Missense_Mutation_p.G252V	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	359	Solcar 1.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGAGCCAGAGCCACGCTGGTT	0.443		NaN											1	0	3.10996e-30	0.01441	3.6109e-30	43	66				
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:178098945G>C	uc002ulh.3	-	2	655	c.100C>G	c.(100-102)CGA>GGA	p.R34G	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.010729	0	12	15		Valid		
NIF3L1	60491	broad.mit.edu	37	2	201761879	201761879	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:201761879A>G	uc002uwm.2	+	5	898	c.807A>G	c.(805-807)ATA>ATG	p.I269M	NIF3L1_uc002uwl.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwn.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwo.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwp.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwq.2_Intron	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	269					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						TTGATCGAATAAAAAGACACC	0.428		NaN											0	0	0	0.004289	0	33	45				
NRP2	8828	broad.mit.edu	37	2	206588590	206588590	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:206588590T>G	uc002vaw.2	+	5	1537	c.746T>G	c.(745-747)TTT>TGT	p.F249C	NRP2_uc002vat.2_Missense_Mutation_p.F249C|NRP2_uc002vau.2_Missense_Mutation_p.F249C|NRP2_uc002vav.2_Missense_Mutation_p.F249C|NRP2_uc002vax.2_Missense_Mutation_p.F249C|NRP2_uc002vay.2_Missense_Mutation_p.F249C|NRP2_uc010fud.2_Missense_Mutation_p.F249C	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	249	Extracellular (Potential).|CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TCCCTGACCTTTCACACGGAC	0.552		NaN											0	0	0	0.003163	0	15	16				
MDH1B	130752	broad.mit.edu	37	2	207620047	207620047	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:207620047G>A	uc002vbs.2	-	5	651	c.596C>T	c.(595-597)ACG>ATG	p.T199M	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.T199M|MDH1B_uc010fuj.2_Missense_Mutation_p.T101M|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	199					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTCCACCTTCGTGCAGATGGA	0.572		NaN											0	0	0	0.010729	0	10	29				
OBSL1	23363	broad.mit.edu	37	2	220427307	220427307	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:220427307G>A	uc010fwk.2	-	8	2827	c.2770C>T	c.(2770-2772)CGG>TGG	p.R924W	OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.R399W|OBSL1_uc002vmi.2_Missense_Mutation_p.R924W|OBSL1_uc002vmj.2_Missense_Mutation_p.R511W	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	924	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCCAGGGCCGGCATAGCTCA	0.652		NaN											0	0	0	0.001984	0	5	22				
TRIP12	9320	broad.mit.edu	37	2	230650558	230650558	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:230650558C>T	uc002vpw.1	-	33	4893	c.4784G>A	c.(4783-4785)CGA>CAA	p.R1595Q	TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAGCTCCTCTCGGTTCACAGT	0.453		NaN											0	0	0	0.008871	0	20	27				
COL6A3	1293	broad.mit.edu	37	2	238305412	238305412	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:238305412G>A	uc002vwl.2	-	2	334	c.49C>T	c.(49-51)CTC>TTC	p.L17F	COL6A3_uc002vwo.2_Missense_Mutation_p.L17F|COL6A3_uc010znj.1_Missense_Mutation_p.L17F|COL6A3_uc002vwq.2_Missense_Mutation_p.L17F|COL6A3_uc002vwr.2_Missense_Mutation_p.L17F|COL6A3_uc010znk.1_Missense_Mutation_p.L17F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	17					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCTGAGAGAAAGAGGCAA	0.413		NaN											0	0	0	0.008291	0	9	56				
RBCK1	10616	broad.mit.edu	37	20	389408	389408	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:389408G>A	uc002wdp.3	+	1	700	c.7G>A	c.(7-9)GAG>AAG	p.E3K	RBCK1_uc010zpl.1_Missense_Mutation_p.E3K|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.R9Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR|RBCK1_uc002wdo.2_RNA	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	3	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGATGGACGAGAAGACCAA	0.682		NaN											0	0	0	0.013537	0	11	8				
SNRPB	6628	broad.mit.edu	37	20	2443347	2443347	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:2443347G>C	uc002wfz.1	-	6	783	c.620C>G	c.(619-621)CCT>CGT	p.P207R	SNRPB_uc002wga.1_Missense_Mutation_p.P207R|SNRPB_uc010zpv.1_Missense_Mutation_p.P128R|SNRPB_uc002wgb.2_Missense_Mutation_p.P207R	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	207	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1						CCCTCTTCCAGGGGGGATCCC	0.587		NaN											0	0	0	0.014323	0	24	80				
INSM1	3642	broad.mit.edu	37	20	20349839	20349839	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:20349839C>G	uc002wrx.2	+	1	1075	c.928C>G	c.(928-930)CTG>GTG	p.L310V		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	310	C2H2-type 2.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		CCCGGCCAACCTGGCCTCGCA	0.577		NaN											0	0	0	0.00308	0	7	7				
GDF5	8200	broad.mit.edu	37	20	34022485	34022485	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:34022485C>T	uc002xck.1	-	2	1047	c.728G>A	c.(727-729)CGG>CAG	p.R243Q	GDF5_uc010gfc.1_Missense_Mutation_p.R243Q|uc002xcj.2_Missense_Mutation_p.P299L|GDF5_uc010zvc.1_Missense_Mutation_p.R243Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	243					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGCTTCTTCCGCAAGATCCG	0.687		NaN											0	0	0	0.008361	0	31	107				
MYBL2	4605	broad.mit.edu	37	20	42320809	42320810	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:42320809_42320810TG>CC	uc002xlb.1	+	6	728_729	c.513_514TG>CC	c.(511-516)GCTGTG>GCCCTG	p.V172L	MYBL2_uc010zwj.1_Missense_Mutation_p.V148L|MYBL2_uc002xla.1_Missense_Mutation_p.V172L	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	172	HTH myb-type 3.|H-T-H motif (By similarity).					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAATGCTGTGAAGAATCA	0.337		NaN											0	0	0	0.004672	0	37	52				
WISP2	8839	broad.mit.edu	37	20	43355781	43355781	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:43355781G>A	uc002xmn.2	+	5	939	c.586G>A	c.(586-588)GAA>AAA	p.E196K	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.E196K|WISP2_uc002xmq.2_Silent_p.Q113Q	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	196	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGCCCAGAATGGAGCAC	0.537		NaN											0	0	0	0.01441	0	45	78				
COL9A3	1299	broad.mit.edu	37	20	61467685	61467685	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61467685G>C	uc002ydm.2	+	28	1551	c.1548G>C	c.(1546-1548)CCG>CCC	p.P516P	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	516	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CGGGAGTTCCGGTACGTCGCT	0.632		NaN											0	0	0	0.008361	0	27	43				
SLC17A9	63910	broad.mit.edu	37	20	61597892	61597892	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61597892C>T	uc002yea.3	+	11	1261	c.1077C>T	c.(1075-1077)AAC>AAT	p.N359N	SLC17A9_uc002ydz.3_Silent_p.N353N|SLC17A9_uc011aap.1_Silent_p.N379N	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	359					exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TTTCTGTTAACATCCAGGACT	0.637		NaN											0	0	0	0.004007	0	16	166				
ITSN1	6453	broad.mit.edu	37	21	35147174	35147174	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:35147174G>C	uc002yta.1	+	13	1715	c.1447G>C	c.(1447-1449)GAA>CAA	p.E483Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E367Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E483Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E446Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E446Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E417Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	483	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						ATTTGAATTAGAAGCTCTAGT	0.299		NaN											0	0	0	0.001855	0	10	40				
DOPEY2	9980	broad.mit.edu	37	21	37665692	37665692	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665692C>T	uc002yvg.2	+	37	6799	c.6720C>T	c.(6718-6720)ATC>ATT	p.I2240I	DOPEY2_uc011aeb.1_Silent_p.I2189I	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2240					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTTCCAGCATCAGGCAGTTGA	0.458		NaN											0	0	0	0.003954	0	27	29				
DOPEY2	9980	broad.mit.edu	37	21	37665713	37665713	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665713C>T	uc002yvg.2	+	37	6820	c.6741C>T	c.(6739-6741)TTC>TTT	p.F2247F	DOPEY2_uc011aeb.1_Silent_p.F2196F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2247					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TGCCATTCTTCATGACTCTAA	0.478		NaN											0	0	0	0.008361	0	31	33				
BRWD1	54014	broad.mit.edu	37	21	40636520	40636520	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40636520G>T	uc002yxk.1	-	17	1890	c.1751C>A	c.(1750-1752)CCT>CAT	p.P584H	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.P584H|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.P37H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.P304H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAAGATGAGGAGCCTGCTG	0.393		NaN											1	0	4.7546e-09	0.004007	5.09317e-09	17	17				
LCA5L	150082	broad.mit.edu	37	21	40783687	40783687	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40783687A>G	uc002yxu.2	-	7	1330	c.1017T>C	c.(1015-1017)CAT>CAC	p.H339H	LCA5L_uc002yxv.2_Silent_p.H339H	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	339											0		Prostate(19;1.2e-06)				TAAGTATTCGATGACTATAGA	0.294		NaN											0	0	0	0.004007	0	14	30				
DNMT3L	29947	broad.mit.edu	37	21	45666349	45666349	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:45666349C>T	uc002zeg.1	-	12	1576	c.1092G>A	c.(1090-1092)GTG>GTA	p.V364V	DNMT3L_uc002zeh.1_Silent_p.V365V	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	364					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCAGTTCTTCACCAGCTTGG	0.473		NaN											0	0	0	0.006122	0	18	47				
CACNA1I	8911	broad.mit.edu	37	22	40059831	40059831	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40059831C>G	uc003ayc.2	+	19	3582	c.3582C>G	c.(3580-3582)ATC>ATG	p.I1194M	CACNA1I_uc003ayd.2_Missense_Mutation_p.I1159M|CACNA1I_uc003aye.2_Missense_Mutation_p.I1109M|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1074M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1194	III.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCCTCAGATCGAGGCCGGCA	0.622		NaN											0	0	0	0.003271	0	30	101				
ENTHD1	150350	broad.mit.edu	37	22	40283688	40283688	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40283688C>G	uc003ayg.2	-	2	316	c.65G>C	c.(64-66)AGG>ACG	p.R22T		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	22	ENTH.									ovary(2)|skin(1)	3	Melanoma(58;0.0749)					AGTTGCTTCCCTGACTTTTAT	0.388		NaN											0	0	0	0.003163	0	15	48				
RANGAP1	5905	broad.mit.edu	37	22	41652232	41652232	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:41652232C>T	uc003azs.2	-	8	2421	c.951G>A	c.(949-951)ATG>ATA	p.M317I	RANGAP1_uc003azt.2_Missense_Mutation_p.M317I|RANGAP1_uc003azu.2_Missense_Mutation_p.M317I|RANGAP1_uc011aoz.1_Missense_Mutation_p.M262I	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	317	LRR 5.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CTTTGTCTGCCATGGCCTCAG	0.572		NaN											0	0	0	0.01441	0	44	57				
SYN2	6854	broad.mit.edu	37	3	12211351	12211351	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:12211351T>C	uc003bwm.2	+	14	1417	c.1253T>C	c.(1252-1254)CTG>CCG	p.L418P	SYN2_uc003bwl.1_Missense_Mutation_p.L418P|SYN2_uc003bwn.2_Missense_Mutation_p.L92P	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	418					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AACCAGCTGCTGTCCAGGACT	0.542		NaN											0	0	0	0.009096	0	4	15				
TTC21A	199223	broad.mit.edu	37	3	39180207	39180207	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:39180207C>T	uc003cjc.2	+	29	4068	c.3891C>T	c.(3889-3891)CTC>CTT	p.L1297L	TTC21A_uc003cje.2_Silent_p.L1298L|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.L1249L|TTC21A_uc003cjf.2_Silent_p.L418L	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1297	TPR 19.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCAGGTCCTCAGGGAGCACC	0.587		NaN											0	0	0	0.01441	0	45	25				
ZNF589	51385	broad.mit.edu	37	3	48310197	48310197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48310197G>A	uc003csl.3	+	4	1082	c.1016G>A	c.(1015-1017)CGA>CAA	p.R339Q	ZNF589_uc010hjt.1_Missense_Mutation_p.R336Q|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	339	C2H2-type 4.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGTGTGGGCGAGGCTTTCGT	0.502		NaN											0	0	0	0.00499	0	16	84				
COL7A1	1294	broad.mit.edu	37	3	48630366	48630366	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48630366C>T	uc003ctz.2	-	6	689	c.688G>A	c.(688-690)GAC>AAC	p.D230N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	230	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGTCGAGTCATCCGCTGGG	0.587		NaN											0	0	0	0.00308	0	8	15				
CELSR3	1951	broad.mit.edu	37	3	48689917	48689917	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48689917G>T	uc003cul.2	-	11	5985	c.5704C>A	c.(5704-5706)CCC>ACC	p.P1902T	CELSR3_uc003cuf.1_Missense_Mutation_p.P1972T|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1902	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCACTGCCGGGGGGCAGGCCT	0.637		NaN											1	0	6.42651e-13	0.010729	6.99237e-13	11	40				
QARS	5859	broad.mit.edu	37	3	49141772	49141772	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49141772C>T	uc003cvx.2	-	2	255	c.250G>A	c.(250-252)GAG>AAG	p.E84K	QARS_uc011bcd.1_5'UTR|QARS_uc003cvy.2_Intron|QARS_uc011bce.1_Intron|QARS_uc011bcf.1_Missense_Mutation_p.E84K	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	84					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCTGGGGCTCAGTGTGGATC	0.562		NaN											0	0	0	0.01441	0	56	42				
AMT	275	broad.mit.edu	37	3	49459597	49459597	+	Silent	SNP	A	A	T	rs151231828		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49459597A>T	uc003cww.2	-	2	327	c.198T>A	c.(196-198)ACT>ACA	p.T66T	AMT_uc011bcn.1_Silent_p.T18T|AMT_uc003cwx.2_Silent_p.T66T|AMT_uc011bco.1_Silent_p.T66T|AMT_uc003cwy.2_Silent_p.T18T|AMT_uc011bcp.1_Intron|AMT_uc011bcq.1_Intron	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	66					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGTGCGAGTCAGTGTGACTGT	0.607		NaN											0	0	0	0.007413	0	18	75				
PBRM1	55193	broad.mit.edu	37	3	52597459	52597459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:52597459A>G	uc003des.2	-	24	3938	c.3926T>C	c.(3925-3927)ATC>ACC	p.I1309T	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.I1309T|PBRM1_uc003der.2_Missense_Mutation_p.I1277T|PBRM1_uc003det.2_Missense_Mutation_p.I1324T|PBRM1_uc003deu.2_Missense_Mutation_p.I1324T|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.I1309T|PBRM1_uc010hmk.1_Missense_Mutation_p.I1284T|PBRM1_uc003dey.2_Missense_Mutation_p.I1284T|PBRM1_uc003dez.1_Missense_Mutation_p.I1308T	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1309					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGCAACTGGATCTTCTTTTC	0.403		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.006122	0	16	60				
FLNB	2317	broad.mit.edu	37	3	58111396	58111396	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:58111396T>C	uc003djj.2	+	23	4152	c.3987T>C	c.(3985-3987)TCT>TCC	p.S1329S	FLNB_uc010hne.2_Silent_p.S1329S|FLNB_uc003djk.2_Silent_p.S1329S|FLNB_uc010hnf.2_Silent_p.S1329S|FLNB_uc003djl.2_Silent_p.S1160S|FLNB_uc003djm.2_Silent_p.S1160S	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1329	Filamin 12.|Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAGCCATCTAGGGTGCAAG	0.522		NaN											0	0	0	0.01441	0	54	44				
DZIP3	9666	broad.mit.edu	37	3	108407451	108407451	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:108407451A>G	uc003dxd.2	+	30	3704	c.3282A>G	c.(3280-3282)AAA>AAG	p.K1094K	DZIP3_uc003dxf.1_Silent_p.K1094K|DZIP3_uc011bhm.1_Silent_p.K545K	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1094					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTCAAGGAAAATCAGTGTCAA	0.403		NaN											0	0	0	0.006122	0	19	24				
SEMA5B	54437	broad.mit.edu	37	3	122631022	122631022	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:122631022G>A	uc003efz.1	-	19	3197	c.2893C>T	c.(2893-2895)CCA>TCA	p.P965S	SEMA5B_uc011bju.1_Missense_Mutation_p.P871S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.P965S|SEMA5B_uc003efy.1_Intron	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	965	Extracellular (Potential).|TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CTCATACCTGGGCAGGCCTGT	0.642		NaN											0	0	0	0.010729	0	11	13				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.005443	0	8	30				
RAB43	339122	broad.mit.edu	37	3	128852989	128852989	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:128852989C>T	uc003elo.1	-	9	802	c.591G>A	c.(589-591)CTG>CTA	p.L197L	ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Silent_p.L197L|ISY1_uc010hta.1_Silent_p.L219L	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1						CTCCTCTTGCCAGCCGAGCCT	0.428		NaN											0	0	0	0.001855	0	11	88				
NAALADL2	254827	broad.mit.edu	37	3	175184817	175184817	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:175184817G>A	uc003fit.2	+	8	1465	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R	NAALADL2_uc003fiu.1_Missense_Mutation_p.G453R|NAALADL2_uc010hwy.1_Missense_Mutation_p.G234R|NAALADL2_uc010hwz.1_Missense_Mutation_p.G54R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	460	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAGTTATAATGGACAAGAATG	0.403		NaN											0	0	0	0.01441	0	61	142				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.001984	0	7	13		Valid		
MFN1	55669	broad.mit.edu	37	3	179085314	179085314	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:179085314T>G	uc003fjs.2	+	8	967	c.841T>G	c.(841-843)TTC>GTC	p.F281V	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F309V|MFN1_uc010hxc.2_Missense_Mutation_p.F134V	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	281	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATCGTATCTTCTTTGTTTC	0.403		NaN											0	0	0	0.008361	0	30	18				
FGF12	2257	broad.mit.edu	37	3	191888334	191888334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:191888334C>A	uc003fsx.2	-	4	1352	c.526G>T	c.(526-528)GGA>TGA	p.G176*	FGF12_uc003fsy.2_Nonsense_Mutation_p.G114*	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	176					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTATTGAGTCCCAGAAACCAA	0.413		NaN											1	0	1.45844e-13	0.013726	1.60196e-13	31	137				
PIGG	54872	broad.mit.edu	37	4	509942	509942	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:509942T>A	uc003gak.3	+	6	1218	c.1082T>A	c.(1081-1083)CTG>CAG	p.L361Q	PIGG_uc003gaj.3_Missense_Mutation_p.L361Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.L228Q|PIGG_uc003gal.3_Missense_Mutation_p.L272Q|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.L239Q|PIGG_uc003gam.2_Missense_Mutation_p.L272Q|PIGG_uc003gan.2_Missense_Mutation_p.L272Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	361	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CTTAGTAAACTGTTGCAAGAG	0.453		NaN											0	0	0	0.00874	0	42	55				
DGKQ	1609	broad.mit.edu	37	4	955317	955317	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:955317C>T	uc003gbw.2	-	21	2586	c.2512G>A	c.(2512-2514)GAG>AAG	p.E838K	DGKQ_uc010ibn.2_Missense_Mutation_p.E825K	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	838					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGGCTTCTCAAACCTGGTG	0.701		NaN											0	0	0	0.008291	0	9	12				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.004007	0	10	17		Inconclusive		
JAKMIP1	152789	broad.mit.edu	37	4	6114541	6114541	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:6114541C>T	uc003giu.3	-	2	313	c.37G>A	c.(37-39)GAG>AAG	p.E13K	JAKMIP1_uc010idb.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E13K|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E13K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E13K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E13K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	13	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GTCTCCATCTCGGGCTTCTCG	0.612		NaN											0	0	0	0.00278	0	22	62				
NCAPG	64151	broad.mit.edu	37	4	17816575	17816575	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:17816575G>T	uc003gpp.2	+	4	820	c.644G>T	c.(643-645)GGG>GTG	p.G215V	NCAPG_uc011bxj.1_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		AAAATTGTAGGGCGCACCAAG	0.403		NaN											1	0	4.00102e-26	0.00623	4.59918e-26	36	47				
KDR	3791	broad.mit.edu	37	4	55970921	55970921	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:55970921T>C	uc003has.2	-	13	2178	c.1876A>G	c.(1876-1878)ATC>GTC	p.I626V	KDR_uc003hat.1_Missense_Mutation_p.I626V|KDR_uc011bzx.1_Missense_Mutation_p.I626V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	626	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTCCATGATCAAAATGTCA	0.448		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.004672	0	3	25				
PROL1	58503	broad.mit.edu	37	4	71275374	71275374	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:71275374G>C	uc003hfi.2	+	3	503	c.329G>C	c.(328-330)AGA>ACA	p.R110T		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403		NaN											0	0	0	0.010818	0	26	120				
ADAMTS3	9508	broad.mit.edu	37	4	73186565	73186565	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:73186565C>T	uc003hgk.1	-	7	1005	c.968G>A	c.(967-969)GGA>GAA	p.G323E		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	323	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATGGGTTTCCCCTTTCTAT	0.428		NaN											0	0	0	0.001168	0	5	16				
RASGEF1B	153020	broad.mit.edu	37	4	82362031	82362031	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:82362031C>T	uc003hmi.1	-	10	1205	c.1061G>A	c.(1060-1062)GGG>GAG	p.G354E	RASGEF1B_uc003hmj.1_Missense_Mutation_p.G353E|RASGEF1B_uc010ijq.1_Missense_Mutation_p.G312E	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	354	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						TTGTGCTGCCCCACGAAGAGC	0.338		NaN											0	0	0	0.01441	0	43	56				
GAR1	54433	broad.mit.edu	37	4	110740212	110740212	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110740212A>T	uc003hzt.2	+	4	732	c.425A>T	c.(424-426)CAG>CTG	p.Q142L	GAR1_uc003hzu.2_Missense_Mutation_p.Q142L|GAR1_uc010imh.1_Missense_Mutation_p.Q142L|GAR1_uc010imi.2_Missense_Mutation_p.Q142L	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	142					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						AAAAAACTACAGAAGGTGAGT	0.343		NaN											0	0	0	0.013726	0	30	40				
LRIT3	345193	broad.mit.edu	37	4	110789062	110789062	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110789062C>A	uc003hzx.3	+	2	913	c.720C>A	c.(718-720)ATC>ATA	p.I240I	LRIT3_uc003hzw.3_Silent_p.I102I	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	240	Ig-like.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCCCACAGATCACATGGACCA	0.453		NaN											1	0	0.00198382	0.001984	0.00203077	5	37				
SLC9A3	6550	broad.mit.edu	37	5	476428	476428	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:476428G>A	uc003jbe.2	-	13	2068	c.1956C>T	c.(1954-1956)ATC>ATT	p.I652I	SLC9A3_uc011clx.1_Silent_p.I643I|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	652	Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTGGAAGATTTCCCGGT	0.607		NaN											0	0	0	0.01441	0	64	19				
CTNND2	1501	broad.mit.edu	37	5	11022943	11022943	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:11022943C>T	uc003jfa.1	-	17	3082	c.2937G>A	c.(2935-2937)AAG>AAA	p.K979K	CTNND2_uc010itt.2_Silent_p.K888K|CTNND2_uc011cmy.1_Silent_p.K642K|CTNND2_uc011cmz.1_Silent_p.K546K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.K571K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	979	ARM 9.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCCGTAAGGCCTTGGCGTTCT	0.512		NaN											0	0	0	0.008291	0	9	28				
HCN1	348980	broad.mit.edu	37	5	45645317	45645317	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:45645317C>A	uc003jok.2	-	2	844	c.819G>T	c.(817-819)AGG>AGT	p.R273S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	273	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ATCTAATTAACCTTGAAAGTC	0.328		NaN											1	0	0.00116845	0.001168	0.00119965	6	2				
PLK2	10769	broad.mit.edu	37	5	57755666	57755666	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:57755666C>T	uc003jrn.2	-	1	248	c.121G>A	c.(121-123)GAA>AAA	p.E41K	PLK2_uc011cql.1_5'Flank	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	41					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGCTGCGATTCCTCGGGGGGC	0.677		NaN											0	0	0	0.008871	0	19	7				
C5orf44	80006	broad.mit.edu	37	5	64920912	64920912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:64920912G>C	uc003jtz.3	+	1	355	c.25G>C	c.(25-27)GAG>CAG	p.E9Q	TRIM23_uc003jtw.2_5'Flank|TRIM23_uc003jtx.2_5'Flank|TRIM23_uc003jty.2_5'Flank|C5orf44_uc010iwu.1_5'UTR|C5orf44_uc003jua.3_Missense_Mutation_p.E9Q|C5orf44_uc003juc.3_Missense_Mutation_p.E9Q|C5orf44_uc010iwv.2_Missense_Mutation_p.E9Q	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	9										ovary(1)	1						CCCTAAACAGGAGCACCTGCT	0.512		NaN											0	0	0	0.00499	0	14	7				
CAST	831	broad.mit.edu	37	5	96100940	96100940	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:96100940C>A	uc003klz.1	+	24	1861	c.1699C>A	c.(1699-1701)CTC>ATC	p.L567I	CAST_uc003klt.2_Missense_Mutation_p.L554I|CAST_uc003klu.2_Missense_Mutation_p.L650I|CAST_uc003klv.2_Missense_Mutation_p.L628I|CAST_uc003klw.2_Missense_Mutation_p.L631I|CAST_uc003klx.2_Missense_Mutation_p.L609I|CAST_uc003kly.2_Missense_Mutation_p.L615I|CAST_uc011cuo.1_Missense_Mutation_p.L613I|CAST_uc011cur.1_Missense_Mutation_p.L553I|CAST_uc011cus.1_Missense_Mutation_p.L554I|CAST_uc003kma.1_Missense_Mutation_p.L525I|CAST_uc011cut.1_Missense_Mutation_p.L495I|CAST_uc003kmb.2_Missense_Mutation_p.L513I|CAST_uc003kmc.2_Missense_Mutation_p.L567I|CAST_uc003kmd.2_Missense_Mutation_p.L545I|CAST_uc003kme.2_Missense_Mutation_p.L526I|CAST_uc003kmf.2_Missense_Mutation_p.L532I|CAST_uc003kmh.2_Missense_Mutation_p.L281I|CAST_uc010jbj.2_Missense_Mutation_p.L282I|CAST_uc010jbk.2_Missense_Mutation_p.L282I|CAST_uc010jbl.1_Missense_Mutation_p.L290I|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.L289I|CAST_uc003kmk.2_RNA|ERAP1_uc003kml.2_Intron	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	567							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGACAAAGACCTCGATGATGC	0.403		NaN											1	0	1.15088e-07	0.004007	1.22902e-07	17	8				
PCDHA6	56142	broad.mit.edu	37	5	140209959	140209959	+	Silent	SNP	G	G	A	rs150255684	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:140209959G>A	uc003lho.2	+	1	2310	c.2283G>A	c.(2281-2283)GGG>GGA	p.G761G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G761G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	761	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCGGGGAGGGCCCAC	0.607		NaN											0	0	0	0.008291	0	11	44				
FAT2	2196	broad.mit.edu	37	5	150946090	150946090	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:150946090G>A	uc003lue.3	-	1	2416	c.2403C>T	c.(2401-2403)TCC>TCT	p.S801S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S801S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	801	Extracellular (Potential).|Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCAGGAGGACTTCTGGG	0.512		NaN											0	0	0	0.01441	0	46	10				
DOCK2	1794	broad.mit.edu	37	5	169477279	169477279	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:169477279G>T	uc003maf.2	+	41	4171	c.4091G>T	c.(4090-4092)CGC>CTC	p.R1364L	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502		NaN											1	0	1.42033e-22	0.004289	1.606e-22	35	70				
SLC22A23	63027	broad.mit.edu	37	6	3284172	3284172	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:3284172C>A	uc003mvm.3	-	9	1617	c.1617G>T	c.(1615-1617)GCG>GCT	p.A539A	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Silent_p.A258A|SLC22A23_uc003mvo.3_Silent_p.A258A|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Silent_p.A539A	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	539	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGATGGAAAACGCGATGGAAA	0.587		NaN											1	0	9.31168e-06	0.001855	9.73366e-06	14	22				
RREB1	6239	broad.mit.edu	37	6	7230402	7230402	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:7230402G>T	uc003mxc.2	+	10	2460	c.2070G>T	c.(2068-2070)CTG>CTT	p.L690L	RREB1_uc003mxb.2_Silent_p.L690L|RREB1_uc010jnx.2_Silent_p.L690L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	690	C2H2-type 8.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCGCCACCTGCGCACGCACA	0.627		NaN											1	0	8.60227e-14	0.004007	9.47894e-14	17	39				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.00308	0	4	33				
TRERF1	55809	broad.mit.edu	37	6	42231063	42231063	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42231063C>G	uc003osd.2	-	8	2442	c.1879G>C	c.(1879-1881)GTG>CTG	p.V627L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.V627L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	627	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCACGAGCACAGGCATCTCG	0.682		NaN											0	0	0	0.003755	0	31	80				
UBR2	23304	broad.mit.edu	37	6	42625826	42625826	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42625826T>G	uc011dur.1	+	27	2937	c.2937T>G	c.(2935-2937)GCT>GCG	p.A979A	UBR2_uc011dus.1_Silent_p.A624A|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	979					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAAATGCTCCCTACCTAG	0.373		NaN											0	0	0	0.01441	0	56	73				
CUL7	9820	broad.mit.edu	37	6	43008026	43008026	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:43008026C>T	uc003otq.2	-	22	4465	c.4162G>A	c.(4162-4164)GAA>AAA	p.E1388K	CUL7_uc010jyg.2_Missense_Mutation_p.E667K|CUL7_uc011dvb.1_Missense_Mutation_p.E1472K|CUL7_uc010jyh.2_Missense_Mutation_p.E381K|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1388					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGACACTTCTGGCATTGCC	0.498		NaN											0	0	0	0.008361	0	32	42				
TDRD6	221400	broad.mit.edu	37	6	46656613	46656613	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46656613G>A	uc003oyj.2	+	1	748	c.748G>A	c.(748-750)GTG>ATG	p.V250M	TDRD6_uc010jze.2_Missense_Mutation_p.V244M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	250					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GCAGCTGGGCGTGACGGAGGC	0.632		NaN											0	0	0	0.007413	0	20	22				
TDRD6	221400	broad.mit.edu	37	6	46661470	46661470	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46661470C>G	uc003oyj.2	+	1	5605	c.5605C>G	c.(5605-5607)CTA>GTA	p.L1869V	TDRD6_uc010jze.2_Missense_Mutation_p.L1863V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1869					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAAAGGGGAGCTAAGCCCGGT	0.478		NaN											0	0	0	0.00308	0	8	43				
AKD1	221264	broad.mit.edu	37	6	109854548	109854548	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:109854548C>A	uc003ptn.2	-	28	3553	c.3476G>T	c.(3475-3477)CGC>CTC	p.R1159L	AKD1_uc011eat.1_Missense_Mutation_p.R238L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1159					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						AGGAAGGAGGCGATCAAAAAT	0.383		NaN											1	0	0.004672	0.004672	0.00475445	3	15				
CLVS2	134829	broad.mit.edu	37	6	123319132	123319132	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:123319132C>G	uc003pzi.1	+	2	1079	c.210C>G	c.(208-210)CGC>CGG	p.R70R		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	70					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGGCCTTCCGCCTCCTGGCGC	0.547		NaN											0	0	0	0.013726	0	28	51				
UTRN	7402	broad.mit.edu	37	6	144613024	144613024	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:144613024T>C	uc003qkt.2	+	1	152	c.60T>C	c.(58-60)GAT>GAC	p.D20D	UTRN_uc010khq.1_Silent_p.D20D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	20	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATTCAGTGATATCATTAAGT	0.378		NaN											0	0	0	0.010504	0	19	11				
ZBTB2	57621	broad.mit.edu	37	6	151687920	151687920	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:151687920C>T	uc003qoh.2	-	3	416	c.281G>A	c.(280-282)CGA>CAA	p.R94Q		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTGTTCTAATCGAACCGGGTC	0.537		NaN											0	0	0	0.01441	0	59	18				
WTAP	9589	broad.mit.edu	37	6	160169296	160169296	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:160169296C>T	uc003qsl.2	+	6	569	c.347C>T	c.(346-348)GCG>GTG	p.A116V	WTAP_uc010kjx.2_Missense_Mutation_p.A116V|WTAP_uc003qsk.2_Missense_Mutation_p.A116V|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.A116V	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	116					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTAGACCCAGCGATCAACTTG	0.443		NaN											0	0	0	0.008291	0	11	8				
TTLL2	83887	broad.mit.edu	37	6	167755014	167755014	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:167755014G>C	uc003qvs.1	+	3	1714	c.1626G>C	c.(1624-1626)CTG>CTC	p.L542L	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	542					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGTGTGTCCTGTCAGACCGTG	0.532		NaN											0	0	0	0.004289	0	32	14				
SMOC2	64094	broad.mit.edu	37	6	169051454	169051454	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:169051454C>T	uc003qws.1	+	10	1021	c.1001C>T	c.(1000-1002)TCG>TTG	p.S334L	SMOC2_uc003qwr.1_Missense_Mutation_p.S345L|SMOC2_uc011egu.1_Missense_Mutation_p.S11L	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	334					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCTCCTCCTCGTCAGGCAGG	0.557		NaN											0	0	0	0.00308	0	8	2				
PRKAR1B	5575	broad.mit.edu	37	7	624145	624145	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:624145C>G	uc003siu.1	-	9	875	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	PRKAR1B_uc003siv.2_Missense_Mutation_p.E257Q|PRKAR1B_uc003siw.1_Missense_Mutation_p.E257Q|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	257	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGCCACTGACCTAGGATGGAG	0.592		NaN											0	0	0	0.008291	0	10	17				
IGF2BP3	10643	broad.mit.edu	37	7	23390927	23390927	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:23390927G>C	uc003swg.2	-	6	946	c.680C>G	c.(679-681)TCT>TGT	p.S227C		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	227	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						TACTCACTTAGACTGGGTCTG	0.488		NaN											0	0	0	0.006122	0	17	60				
OSBPL3	26031	broad.mit.edu	37	7	24911680	24911680	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:24911680C>G	uc003sxf.2	-	3	510	c.105G>C	c.(103-105)TGG>TGC	p.W35C	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxh.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxi.2_Missense_Mutation_p.W35C	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	35					lipid transport		lipid binding|protein binding			skin(1)	1						CCACCACTTCCCAGCTGTCCT	0.403		NaN											0	0	0	0.003163	0	12	37				
EGFR	1956	broad.mit.edu	37	7	55224469	55224469	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55224469C>G	uc003tqk.2	+	10	1397	c.1151C>G	c.(1150-1152)ACT>AGT	p.T384S	EGFR_uc003tqh.2_Missense_Mutation_p.T384S|EGFR_uc003tqi.2_Missense_Mutation_p.T384S|EGFR_uc003tqj.2_Missense_Mutation_p.T384S|EGFR_uc010kzg.1_Missense_Mutation_p.T339S|EGFR_uc011kco.1_Missense_Mutation_p.T331S|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	384	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCACACATACTCCTCCTCTG	0.373		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	0.007413	0	18	85				
LANCL2	55915	broad.mit.edu	37	7	55468950	55468950	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55468950G>C	uc003tqp.2	+	5	1340	c.762G>C	c.(760-762)TGG>TGC	p.W254C		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	254					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGTACCAGTGGCACCGGAAGC	0.438		NaN											0	0	0	0.01441	0	45	55				
GNAI1	2770	broad.mit.edu	37	7	79846687	79846687	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:79846687G>A	uc003uhb.1	+	8	1280	c.943G>A	c.(943-945)GAC>AAC	p.D315N	GNAI1_uc011kgt.1_Missense_Mutation_p.D263N	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	315					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TAAAAGAAAGGACACAAAGGA	0.348		NaN											0	0	0	0.013537	0	12	24				
MUC17	140453	broad.mit.edu	37	7	100685857	100685857	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:100685857C>G	uc003uxp.1	+	3	11213	c.11160C>G	c.(11158-11160)GTC>GTG	p.V3720V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3720	Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTCTGTTGTCACCAGCACAC	0.507		NaN											0	0	0	0.01441	0	80	106				
PARP12	64761	broad.mit.edu	37	7	139724424	139724424	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:139724424G>T	uc003vvl.1	-	12	2916	c.2042C>A	c.(2041-2043)TCC>TAC	p.S681Y	PARP12_uc003vvk.1_Missense_Mutation_p.S467Y|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	681	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					CGAGGGCTTGGAGGAGGTGGT	0.562		NaN											1	0	7.93312e-07	0.00245	8.34304e-07	14	50				
TRPV6	55503	broad.mit.edu	37	7	142575431	142575431	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:142575431C>T	uc003wbx.1	-	3	538	c.322G>A	c.(322-324)GAG>AAG	p.E108K	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	108	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					GTCATGGGCTCAAAGACCAGC	0.587		NaN											0	0	0	0.01441	0	58	76				
OR6B1	135946	broad.mit.edu	37	7	143701527	143701527	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:143701527T>A	uc003wdt.1	+	1	438	c.438T>A	c.(436-438)CTT>CTA	p.L146L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					GCCTCGCTCTTGGTTCCTGGG	0.562		NaN											0	0	0	0.013537	0	12	29				
MTUS1	57509	broad.mit.edu	37	8	17573306	17573306	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17573306G>C	uc003wxv.2	-	5	3028	c.2554C>G	c.(2554-2556)CAT>GAT	p.H852D	MTUS1_uc003wxt.2_Missense_Mutation_p.H99D|MTUS1_uc011kyg.1_5'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.H798D	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	852						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		AAGTGAACATGAGCCCTGGAT	0.428		NaN											0	0	0	0.004289	0	35	142				
FGL1	2267	broad.mit.edu	37	8	17739539	17739539	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17739539G>A	uc003wxx.2	-	4	537	c.213C>T	c.(211-213)GTC>GTT	p.V71V	FGL1_uc003wxy.2_Silent_p.V71V|FGL1_uc003wxz.2_Silent_p.V71V|FGL1_uc003wya.2_Silent_p.V71V|FGL1_uc003wyb.2_Silent_p.V71V|FGL1_uc003wyc.2_Silent_p.V71V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V121V|FGL1_uc003wyf.2_Silent_p.V41V	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	71					signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGATCAATGACAGTATTCT	0.438		NaN											0	0	0	0.013114	0	45	52				
FZD3	7976	broad.mit.edu	37	8	28378298	28378298	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:28378298G>A	uc003xgx.2	+	4	811	c.333G>A	c.(331-333)TCG>TCA	p.S111S	FZD3_uc010lvb.2_Silent_p.S111S	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	111	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTGAGTGTTCGAAGCTCATGG	0.443		NaN											0	0	0	0.003755	0	36	102				
MYST3	7994	broad.mit.edu	37	8	41792359	41792359	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:41792359G>C	uc010lxb.2	-	18	3923	c.3379C>G	c.(3379-3381)CTT>GTT	p.L1127V	MYST3_uc010lxc.2_Missense_Mutation_p.L1127V|MYST3_uc003xon.3_Missense_Mutation_p.L1127V	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1127					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TTTCGCAAAAGAGATACTGGC	0.413		NaN											0	0	0	0.01441	0	51	245				
IKBKB	3551	broad.mit.edu	37	8	42174385	42174385	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:42174385C>G	uc003xow.1	+	11	1265	c.1088C>G	c.(1087-1089)CCC>CGC	p.P363R	IKBKB_uc003xov.2_Missense_Mutation_p.P363R|IKBKB_uc010lxh.1_Missense_Mutation_p.P258R|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.P140R|IKBKB_uc003xox.1_Missense_Mutation_p.P84R|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.P361R|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.P304R	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	363					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCGTTGATCCCCGATAAGCCT	0.577		NaN											0	0	0	0.004482	0	8	38				
KIAA0146	23514	broad.mit.edu	37	8	48614292	48614292	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48614292C>T	uc003xqd.2	+	13	1792	c.1783C>T	c.(1783-1785)CAT>TAT	p.H595Y	KIAA0146_uc011ldb.1_Missense_Mutation_p.H595Y|KIAA0146_uc010lxs.2_Missense_Mutation_p.H70Y|KIAA0146_uc011ldc.1_Missense_Mutation_p.H525Y|KIAA0146_uc011ldd.1_Missense_Mutation_p.H535Y|KIAA0146_uc003xqe.2_Missense_Mutation_p.H70Y|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.H284Y|KIAA0146_uc010lxt.2_Missense_Mutation_p.H284Y|KIAA0146_uc011ldf.1_Missense_Mutation_p.H100Y|KIAA0146_uc011ldg.1_Missense_Mutation_p.H85Y|KIAA0146_uc010lxv.1_Missense_Mutation_p.H89Y	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	595											0		Lung NSC(58;0.175)				GATAAAAACTCATCTGCCTCC	0.353		NaN											0	0	0	0.01441	0	74	108				
MCM4	4173	broad.mit.edu	37	8	48875509	48875509	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48875509A>G	uc003xqk.1	+	7	697	c.602A>G	c.(601-603)AAT>AGT	p.N201S	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.N201S|MCM4_uc011ldi.1_Missense_Mutation_p.N188S|MCM4_uc010lxw.1_RNA	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	201					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTCTAGATTAATGTTATTGGT	0.284		NaN											0	0	0	0.010818	0	34	33				
FER1L6	654463	broad.mit.edu	37	8	125015463	125015463	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015463G>A	uc003yqw.2	+	13	1782	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	526	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCAGCTGAATCAGCTGA	0.522		NaN											0	0	0	0.00333	0	22	41				
FER1L6	654463	broad.mit.edu	37	8	125015577	125015577	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015577G>C	uc003yqw.2	+	13	1896	c.1690G>C	c.(1690-1692)GAA>CAA	p.E564Q	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	564	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGGTGACAGAAGGGAACAG	0.507		NaN											0	0	0	0.009096	0	2	16				
TSTA3	7264	broad.mit.edu	37	8	144696593	144696593	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:144696593G>T	uc003yza.2	-	6	531	c.495C>A	c.(493-495)TTC>TTA	p.F165L	TSTA3_uc003yzb.2_Missense_Mutation_p.F165L	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	165					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TGACAGCGGTGAAGGTGCAGC	0.662		NaN											1	0	0.00116845	0.001168	0.00119965	5	53				
MUSK	4593	broad.mit.edu	37	9	113496648	113496648	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:113496648G>A	uc004bey.2	+	6	844	c.746G>A	c.(745-747)GGA>GAA	p.G249E	MUSK_uc004bex.2_Missense_Mutation_p.G259E	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	249	Ig-like 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						ATTGAAAACGGAAATGCTGTG	0.507		NaN											0	0	0	0.010504	0	20	4				
PRPF4	9128	broad.mit.edu	37	9	116053237	116053237	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:116053237G>T	uc004bgx.2	+	13	1366	c.1316G>T	c.(1315-1317)CGG>CTG	p.R439L	PRPF4_uc004bgy.2_Missense_Mutation_p.R438L	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	439	WD 5.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						CTCCGACAGCGGCGTTGCGTC	0.468		NaN											1	0	1.49673e-21	0.00623	1.68139e-21	40	15				
MXRA5	25878	broad.mit.edu	37	X	3229321	3229321	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3229321G>A	uc004crg.3	-	7	7080	c.6923C>T	c.(6922-6924)ACA>ATA	p.T2308I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2308	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAGTAGAGTGTCCCATTGTT	0.537		NaN											0	0	0	0.01441	0	60	82				
MXRA5	25878	broad.mit.edu	37	X	3239768	3239768	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3239768T>A	uc004crg.3	-	5	4115	c.3958A>T	c.(3958-3960)ACA>TCA	p.T1320S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1320						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCATCTGATGTGGGTTTATAT	0.363		NaN											0	0	0	0.004656	0	26	131				
TLR7	51284	broad.mit.edu	37	X	12904760	12904760	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12904760G>C	uc004cvc.2	+	3	1272	c.1133G>C	c.(1132-1134)AGA>ACA	p.R378T		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	378	Extracellular (Potential).|LRR 13.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CTGCGGATCAGAGGATATGTC	0.338		NaN											0	0	0	0.001855	0	14	83				
TLR7	51284	broad.mit.edu	37	X	12905270	12905270	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12905270A>T	uc004cvc.2	+	3	1782	c.1643A>T	c.(1642-1644)GAC>GTC	p.D548V		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	548	Extracellular (Potential).|LRR 18.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	AGATATTTGGACTTCTCCAAC	0.388		NaN											0	0	0	0.01441	0	98	174				
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15509315C>T	uc004cwu.2	-	2	304	c.66G>A	c.(64-66)GCG>GCA	p.A22A	PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	pirin	22					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			ovary(1)	1	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522		NaN											0	0	0	0.01441	0	93	117				
ZRSR2	8233	broad.mit.edu	37	X	15821884	15821884	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15821884G>A	uc004cxg.3	+	4	322	c.277G>A	c.(277-279)GAA>AAA	p.E93K		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	93					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					GAAGGAAAAGGAAGAGGCGGC	0.378		NaN											0	0	0	0.009096	0	4	13				
CDKL5	6792	broad.mit.edu	37	X	18643279	18643279	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:18643279C>A	uc004cym.2	+	17	2661	c.2408C>A	c.(2407-2409)ACG>AAG	p.T803K	CDKL5_uc004cyn.2_Missense_Mutation_p.T803K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	803					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GATCTTCTGACGTTGCAGAAA	0.483		NaN											1	0	6.25564e-26	0.01441	7.16706e-26	62	84				
RPS6KA3	6197	broad.mit.edu	37	X	20205975	20205975	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:20205975C>T	uc004czu.2	-	9	745	c.745G>A	c.(745-747)GCT>ACT	p.A249T	RPS6KA3_uc011mjk.1_Missense_Mutation_p.A220T|RPS6KA3_uc004czv.2_Missense_Mutation_p.A237T|RPS6KA3_uc011mjl.1_Missense_Mutation_p.A221T|RPS6KA3_uc011mjm.1_Missense_Mutation_p.A221T	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	249	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						CACCAGTCAGCACTCTGAGTA	0.393		NaN											0	0	0	0.00874	0	41	71				
KDM6A	7403	broad.mit.edu	37	X	44969392	44969392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:44969392C>A	uc004dge.3	+	28	4449	c.4074C>A	c.(4072-4074)TGC>TGA	p.C1358*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.C1410*|KDM6A_uc011mla.1_Nonsense_Mutation_p.C1313*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.C1365*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.C1062*|KDM6A_uc011mld.1_Nonsense_Mutation_p.C997*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1358					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGTACATTGCCAAGATTGTG	0.368		NaN	D|N|F|S		renal|oesophageal SCC|MM								1	0	7.93312e-07	0.00245	8.34304e-07	14	34		Valid		
FOXP3	50943	broad.mit.edu	37	X	49107796	49107796	+	Nonstop_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:49107796C>G	uc004dnf.3	-	12	1483	c.1295G>C	c.(1294-1296)TGA>TCA	p.*432S	FOXP3_uc011mnb.1_Nonstop_Mutation_p.*455S|FOXP3_uc011mnc.1_Nonstop_Mutation_p.*405S|FOXP3_uc004dne.3_Nonstop_Mutation_p.*397S|FOXP3_uc010niq.1_3'UTR	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	432					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					ATCTTGAGGTCAGGGGCCAGG	0.617		NaN											0	0	0	0.008291	0	9	23				
ZXDB	158586	broad.mit.edu	37	X	57619922	57619922	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:57619922G>A	uc004dvd.2	+	1	1654	c.1441G>A	c.(1441-1443)GAC>AAC	p.D481N		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	481	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GCACGACGATGACCGGAGGTT	0.517		NaN											0	0	0	0.01441	0	53	76				
LAS1L	81887	broad.mit.edu	37	X	64734785	64734785	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:64734785T>A	uc004dwa.1	-	13	2068	c.1996A>T	c.(1996-1998)ATG>TTG	p.M666L	LAS1L_uc004dwc.1_Missense_Mutation_p.M649L|LAS1L_uc004dwd.1_Missense_Mutation_p.M607L|LAS1L_uc004dvy.1_Missense_Mutation_p.M179L|LAS1L_uc004dvz.1_Missense_Mutation_p.M179L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	666						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						TTCTCCAGCATGAGCTCTGCT	0.557		NaN											0	0	0	0.013537	0	13	22				
OGT	8473	broad.mit.edu	37	X	70784453	70784453	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:70784453C>A	uc004eaa.1	+	19	2656	c.2439C>A	c.(2437-2439)ATC>ATA	p.I813I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.I803I|OGT_uc004eac.2_Silent_p.I674I|OGT_uc004ead.2_Silent_p.I432I	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	813					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TGTTCTAGATCAACAATAAGG	0.383		NaN											1	0	3.32936e-07	0.006122	3.53361e-07	17	22				
STAG2	10735	broad.mit.edu	37	X	123182853	123182853	+	Splice_Site	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:123182853A>C	uc004etz.3	+	9	1159	c.820_splice	c.e9-2	p.L274_splice	STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GTTTTTTTACAGCTTCAGGAA	0.308		NaN											0	0	0	0.00278	0	24	26		Valid		
MAGEC2	51438	broad.mit.edu	37	X	141291023	141291024	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:141291023_141291024CC>TT	uc004fbu.1	-	3	1098_1099	c.750_751GG>AA	c.(748-753)TGGGAA>TGAAAA	p.250_251WE>*K		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	250_251	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCACTTCCCAGATGACCT	0.515		NaN								HNSCC(46;0.14)			0	0	0	0.004672	0	59	129				
SPANXN2	494119	broad.mit.edu	37	X	142803727	142803727	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:142803727C>A	uc004fbz.2	-	1	790	c.36G>T	c.(34-36)AAG>AAT	p.K12N		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	12										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCTTCCTCTTCTCCCCAT	0.318		NaN											1	0	2.165e-29	0.01441	2.50532e-29	58	205				
MTM1	4534	broad.mit.edu	37	X	149809841	149809841	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:149809841G>T	uc004fef.3	+	8	704	c.628G>T	c.(628-630)GAT>TAT	p.D210Y	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.D173Y|MTM1_uc011mxz.1_Missense_Mutation_p.D95Y|MTM1_uc010nte.2_Missense_Mutation_p.D78Y	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	210	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTGCCTCAGATGATGACCT	0.438		NaN											1	0	3.86212e-05	0.008291	4.01289e-05	10	54				
PNCK	139728	broad.mit.edu	37	X	152937346	152937346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:152937346G>A	uc011myu.1	-	5	838	c.652C>T	c.(652-654)CGG>TGG	p.R218W	PNCK_uc011myt.1_Missense_Mutation_p.R152W|PNCK_uc004fia.2_Missense_Mutation_p.R147W|PNCK_uc004fhz.3_Missense_Mutation_p.R33W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.R162W|PNCK_uc011myw.1_Missense_Mutation_p.R162W	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	135	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGTCCCGGTGCACGATC	0.662		NaN											0	0	0	0.001168	0	6	18				
TNFRSF4	7293	broad.mit.edu	37	1	1149375	1149375	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:1149375C>T	uc001ade.2	-	1	138	c.133G>A	c.(133-135)GAG>AAG	p.E45K	TNFRSF4_uc001adf.2_5'UTR	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	45	Extracellular (Potential).|TNFR-Cys 1.				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCTGCACTCGTGGCAGCAC	0.721		NaN											0	0	0	0.004672	0	3	5				
CASZ1	54897	broad.mit.edu	37	1	10713996	10713996	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:10713996C>T	uc001aro.2	-	11	2438	c.2118G>A	c.(2116-2118)CCG>CCA	p.P706P	CASZ1_uc001arp.1_Silent_p.P706P|CASZ1_uc009vmx.2_Silent_p.P730P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCAGCGAGGGCGGCAGCCCCA	0.667		NaN											0	0	0	0.028581	0	17	49				
DNAJC16	23341	broad.mit.edu	37	1	15860766	15860766	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15860766G>A	uc001aws.2	+	3	322	c.202G>A	c.(202-204)GAC>AAC	p.D68N	DNAJC16_uc001awr.1_Missense_Mutation_p.D68N|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	68	Cytoplasmic (Potential).|J.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGAGCAGAAGACAAGTTCAT	0.413		NaN											0	0	0	0.048971	0	48	46				
DNAJC16	23341	broad.mit.edu	37	1	15863024	15863024	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15863024G>C	uc001aws.2	+	4	409	c.289G>C	c.(289-291)GAG>CAG	p.E97Q	DNAJC16_uc001awr.1_Missense_Mutation_p.E97Q|DNAJC16_uc001awt.2_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	97	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGACGCTGGAGAGAACCAGGG	0.363		NaN											0	0	0	0.037714	0	31	29				
RSC1A1	6248	broad.mit.edu	37	1	15986519	15986519	+	Silent	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15986519T>C	uc010obn.1	+	1	156	c.156T>C	c.(154-156)GCT>GCC	p.A52A	DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1,	52					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			ovary(1)	1		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCTAAAGCTGTGAAGGCTT	0.448		NaN											0	0	0	0.048971	0	154	179				
ARHGEF10L	55160	broad.mit.edu	37	1	17942675	17942675	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:17942675C>T	uc001ban.2	+	9	972	c.813C>T	c.(811-813)TTC>TTT	p.F271F	ARHGEF10L_uc009vpe.1_Silent_p.F232F|ARHGEF10L_uc001bao.2_Silent_p.F232F|ARHGEF10L_uc001bap.2_Silent_p.F232F|ARHGEF10L_uc010ocr.1_Silent_p.F29F|ARHGEF10L_uc001baq.2_Silent_p.F37F|ARHGEF10L_uc010ocs.1_5'Flank|ARHGEF10L_uc001bar.2_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	271					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGTCTCCTTCCTGCACAGGA	0.622		NaN											0	0	0	0.054565	0	33	71				
LUZP1	7798	broad.mit.edu	37	1	23418794	23418794	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418794C>G	uc001bgk.2	-	4	2345	c.1961G>C	c.(1960-1962)AGA>ACA	p.R654T	LUZP1_uc010odv.1_Missense_Mutation_p.R654T|LUZP1_uc001bgl.2_Missense_Mutation_p.R654T|LUZP1_uc001bgm.1_Missense_Mutation_p.R654T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	654						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGCTTCTCTCTGCCACTGGA	0.483		NaN											0	0	0	0.048971	0	79	166				
LUZP1	7798	broad.mit.edu	37	1	23418882	23418882	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418882C>T	uc001bgk.2	-	4	2257	c.1873G>A	c.(1873-1875)GAA>AAA	p.E625K	LUZP1_uc010odv.1_Missense_Mutation_p.E625K|LUZP1_uc001bgl.2_Missense_Mutation_p.E625K|LUZP1_uc001bgm.1_Missense_Mutation_p.E625K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	625						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTAACCCCTTCTTTATGTGAG	0.468		NaN											0	0	0	0.048971	0	80	160				
LUZP1	7798	broad.mit.edu	37	1	23419929	23419929	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419929C>T	uc001bgk.2	-	4	1210	c.826G>A	c.(826-828)GAA>AAA	p.E276K	LUZP1_uc010odv.1_Missense_Mutation_p.E276K|LUZP1_uc001bgl.2_Missense_Mutation_p.E276K|LUZP1_uc001bgm.1_Missense_Mutation_p.E276K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	276	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTTTCATTTTCTGATTTGTTT	0.403		NaN											0	0	0	0.045705	0	7	74				
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:27212601C>G	uc001bnd.1	-	3	874	c.592G>C	c.(592-594)GAG>CAG	p.E198Q		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	198							GTP binding				0						TCCAGAACCTCTGTGTAGTAG	0.502		NaN											0	0	0	0.020292	0	15	38				
TMEM54	113452	broad.mit.edu	37	1	33363847	33363847	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363847C>G	uc001bwi.1	-	2	204	c.90G>C	c.(88-90)GTG>GTC	p.V30V	TMEM54_uc001bwj.1_Silent_p.V30V|TMEM54_uc001bwk.1_Silent_p.V30V	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	30	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGATGAAGCTCACATGGCCCA	0.612		NaN											0	0	0	0.076483	0	23	64				
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363913C>T	uc001bwi.1	-	2	138	c.24G>A	c.(22-24)CTG>CTA	p.L8L	TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617		NaN											0	0	0	0.105934	0	12	43				
CD58	965	broad.mit.edu	37	1	117078651	117078651	+	Silent	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:117078651A>T	uc001egm.2	-	3	685	c.564T>A	c.(562-564)ACT>ACA	p.T188T	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.T188T|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.T188T	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	188	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GATTGCTAAGAGTACACTGTA	0.343		NaN											0	0	0	0.014758	0	5	118				
CHD1L	9557	broad.mit.edu	37	1	146747112	146747112	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:146747112C>A	uc001epm.3	+	13	1429	c.1366C>A	c.(1366-1368)CAT>AAT	p.H456N	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.H343N|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.H362N|CHD1L_uc010ozp.1_Missense_Mutation_p.H175N|CHD1L_uc001epo.3_Missense_Mutation_p.H252N|CHD1L_uc010ozq.1_Missense_Mutation_p.H29N|CHD1L_uc009wji.2_Missense_Mutation_p.H175N	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	456	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TGCCAGGGCTCATCGCATTGG	0.443		NaN											1	0	2.02796e-37	0.048971	2.19171e-37	69	72				
MTMR11	10903	broad.mit.edu	37	1	149903264	149903264	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:149903264G>A	uc001etl.3	-	13	1429	c.1178C>T	c.(1177-1179)TCA>TTA	p.S393L	MTMR11_uc001etm.1_Missense_Mutation_p.S321L|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Silent_p.F219F	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	393	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTCGGGGGCTGAAAGCAGCTG	0.562		NaN											0	0	0	0.09836	0	41	66				
ZNF687	57592	broad.mit.edu	37	1	151262304	151262304	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:151262304G>A	uc001exq.2	+	6	2883	c.2785G>A	c.(2785-2787)GAG>AAG	p.E929K	ZNF687_uc009wmo.2_Missense_Mutation_p.E929K|ZNF687_uc009wmp.2_Missense_Mutation_p.E929K	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	929	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCAGAAGAGGAGGAAGTACC	0.657		NaN											0	0	0	0.02938	0	6	3				
SMG5	23381	broad.mit.edu	37	1	156242175	156242175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156242175G>A	uc001foc.3	-	7	798	c.649C>T	c.(649-651)CAG>TAG	p.Q217*		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	217					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GTGCCCAGCTGATTGAAGGGC	0.493		NaN											0	0	0	0.021553	0	5	20				
SMG5	23381	broad.mit.edu	37	1	156243158	156243158	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156243158G>C	uc001foc.3	-	6	777	c.628C>G	c.(628-630)CAG>GAG	p.Q210E		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	210					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TTACCAATCTGAGGAGCTACT	0.478		NaN											0	0	0	0.0918	0	23	54				
HMCN1	83872	broad.mit.edu	37	1	186106714	186106714	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:186106714G>A	uc001grq.1	+	88	13896	c.13667G>A	c.(13666-13668)TGC>TAC	p.C4556Y	HMCN1_uc001grs.1_Missense_Mutation_p.C125Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4556	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGTCGTCTGTGCAACCAGCCC	0.488		NaN											0	0	0	0.037714	0	29	37				
TRAF3IP3	80342	broad.mit.edu	37	1	209933433	209933433	+	Missense_Mutation	SNP	G	G	A	rs150331171		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:209933433G>A	uc001hho.2	+	3	339	c.49G>A	c.(49-51)GAG>AAG	p.E17K	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.E17K|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.E17K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	17	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGGTGGGCTGAGAGCTATGA	0.622		NaN											0	0	0	0.038395	0	17	33				
ZP4	57829	broad.mit.edu	37	1	238053473	238053473	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:238053473T>G	uc001hym.2	-	2	179	c.179A>C	c.(178-180)AAC>ACC	p.N60T	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	60	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGCCCTTGGTTGTCTGGAGG	0.562		NaN											0	0	0	0.048971	0	53	56				
WDR64	128025	broad.mit.edu	37	1	241951205	241951205	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:241951205C>G	uc001hzf.1	+	13	1542	c.1389C>G	c.(1387-1389)CTC>CTG	p.L463L	WDR64_uc001hzg.1_Silent_p.L376L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	910										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCGAAGGCTCTTTGAATTAT	0.383		NaN											0	0	0	0.048971	0	77	105				
WAC	51322	broad.mit.edu	37	10	28903604	28903604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:28903604C>T	uc001iuf.2	+	11	1631	c.1546C>T	c.(1546-1548)CAG>TAG	p.Q516*	WAC_uc001iud.2_Nonsense_Mutation_p.Q471*|WAC_uc001iue.2_Nonsense_Mutation_p.Q206*|WAC_uc001iug.2_Nonsense_Mutation_p.Q413*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q468*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	516					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						TCGAAGTCTTCAGCGCTCAAG	0.408		NaN											0	0	0	0.034045	0	26	53				
HPS6	79803	broad.mit.edu	37	10	103825676	103825676	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:103825676G>A	uc001kuj.2	+	1	530	c.445G>A	c.(445-447)GAG>AAG	p.E149K		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	149						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGCCCGGGCCGAGGGCCCGTC	0.736		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.009096	0	4	0				
OR51D1	390038	broad.mit.edu	37	11	4661394	4661394	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661394C>T	uc010qyk.1	+	1	374	c.374C>T	c.(373-375)TCA>TTA	p.S125L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCGTGGAGTCAGCTGTCCTG	0.547		NaN											0	0	0	0.064281	0	37	25				
OR51D1	390038	broad.mit.edu	37	11	4661499	4661499	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661499C>T	uc010qyk.1	+	1	479	c.479C>T	c.(478-480)TCT>TTT	p.S160F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGGACTATCTGCCCTGACC	0.532		NaN											0	0	0	0.048971	0	60	64				
CAPRIN1	4076	broad.mit.edu	37	11	34097866	34097867	+	Missense_Mutation	DNP	TG	TG	CA	rs140627436	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:34097866_34097867TG>CA	uc001mvh.1	+	5	639_640	c.450_451TG>CA	c.(448-453)CTTGAG>CTCAAG	p.E151K	CAPRIN1_uc001mvg.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvi.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvj.1_Missense_Mutation_p.E70K	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	151	Potential.				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAACTGTACTTGAGCTACAGTA	0.401		NaN											0	0	0	0.004672	0	26	24				
PCNXL3	399909	broad.mit.edu	37	11	65385501	65385501	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:65385501A>G	uc001oey.2	+	6	668	c.668A>G	c.(667-669)GAT>GGT	p.D223G		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	223						integral to membrane					0						CTGGCTGGAGATGGAGCGCCC	0.622		NaN											0	0	0	0.02938	0	7	8				
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:70332827C>T	uc001oqc.2	-	21	3649	c.3571G>A	c.(3571-3573)GCG>ACG	p.A1191T	SHANK2_uc010rqn.1_Missense_Mutation_p.A603T|SHANK2_uc001opz.2_Missense_Mutation_p.A596T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTGCTCGCGGAGGGCACT	0.706		NaN											0	0	0	0.020292	0	15	48				
ARHGEF12	23365	broad.mit.edu	37	11	120298916	120298916	+	Missense_Mutation	SNP	C	C	G	rs147982337	by1000genomes	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:120298916C>G	uc001pxl.1	+	8	552	c.545C>G	c.(544-546)TCT>TGT	p.S182C	ARHGEF12_uc009zat.2_Missense_Mutation_p.S163C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S79C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S79C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	182					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTGGAGCATCTGGGAATATG	0.458		NaN	T	MLL	AML								0	0	0	0.048971	0	73	117				
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:133789947G>C	uc001qgx.3	-	18	3904	c.3673C>G	c.(3673-3675)CGC>GGC	p.R1225G		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677		NaN											0	0	0	0.049695	0	21	45				
CAPRIN2	65981	broad.mit.edu	37	12	30863384	30863384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:30863384G>A	uc001rji.1	-	18	3587	c.2836C>T	c.(2836-2838)CAG>TAG	p.Q946*	CAPRIN2_uc001rjf.1_Silent_p.L756L|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q613*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q896*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q612*|CAPRIN2_uc001rjk.3_Silent_p.L959L|CAPRIN2_uc001rjl.3_Silent_p.L904L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	946					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGCTCACCTGAGAAGAATCA	0.448		NaN											0	0	0	0.048971	0	88	153				
SELPLG	6404	broad.mit.edu	37	12	109017670	109017670	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109017670G>T	uc001tni.2	-	2	574	c.414C>A	c.(412-414)CCC>CCA	p.P138P	SELPLG_uc001tnh.2_Intron|SELPLG_uc010sxe.1_Silent_p.P154P	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	138	2.|Extracellular (Potential).|12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GTGCCTCCGTGGGCACTGGTT	0.612		NaN											1	0	7.26314e-15	0.034045	7.70602e-15	29	71				
CORO1C	23603	broad.mit.edu	37	12	109095087	109095087	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109095087C>G	uc001tnj.2	-	2	104	c.8G>C	c.(7-9)CGA>CCA	p.R3P	CORO1C_uc009zva.2_Missense_Mutation_p.R56P|CORO1C_uc010sxf.1_Missense_Mutation_p.R3P	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	3					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TCGTACCACTCGCCTCATCGT	0.428		NaN											0	0	0	0.080422	0	39	72				
NUDT15	55270	broad.mit.edu	37	13	48611984	48611984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:48611984G>C	uc001vbw.1	+	1	282	c.102G>C	c.(100-102)AGG>AGC	p.R34S	SUCLA2_uc010tgd.1_5'UTR|NUDT15_uc001vbv.2_Missense_Mutation_p.R34S	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	nudix-type motif 15	34	Nudix hydrolase.						hydrolase activity|metal ion binding				0		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TGGGGAAGAGGAAAGGCTCGG	0.682		NaN									OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	4				
RBM26	64062	broad.mit.edu	37	13	79928636	79928636	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:79928636G>C	uc001vkz.2	-	13	1944	c.1930C>G	c.(1930-1932)CCA>GCA	p.P644A	RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	642					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGGTACTGGACCCAGCCGC	0.463		NaN											0	0	0	0.014758	0	4	77				
FARP1	10160	broad.mit.edu	37	13	99083532	99083532	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:99083532G>A	uc001vnj.2	+	18	2477	c.2141G>A	c.(2140-2142)CGA>CAA	p.R714Q	FARP1_uc001vnh.2_Missense_Mutation_p.R714Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	714	DH.		R -> L (in a breast cancer sample; somatic mutation).		regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.R714L(2)		breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGGACTGCCGAGGTGAGTGC	0.687		NaN											0	0	0	0.021553	0	4	3				
TM9SF2	9375	broad.mit.edu	37	13	100154005	100154005	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:100154005G>A	uc001voj.1	+	1	278	c.145G>A	c.(145-147)GAA>AAA	p.E49K	TM9SF2_uc010afz.1_Missense_Mutation_p.E49K	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	49	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCTGCGACGAAGAAAAAAA	0.647		NaN											0	0	0	0.045705	0	30	34				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	0.004672	0	2	1				
TMEM55B	90809	broad.mit.edu	37	14	20928871	20928871	+	Silent	SNP	G	G	A	rs150985847		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:20928871G>A	uc001vxl.2	-	2	429	c.276C>T	c.(274-276)AAC>AAT	p.N92N	TMEM55B_uc001vxk.2_Silent_p.N99N	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	92						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCCTTCCACGTTGATGAGAG	0.527		NaN											0	0	0	0.050027	0	32	84				
SOS2	6655	broad.mit.edu	37	14	50626242	50626242	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:50626242C>G	uc001wxs.3	-	10	1857	c.1759G>C	c.(1759-1761)GAA>CAA	p.E587Q	SOS2_uc010tql.1_Missense_Mutation_p.E554Q|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E275Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	587					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAGTTGTCTTCAAAAACAATG	0.338		NaN											0	0	0	0.039052	0	44	85				
FBXO34	55030	broad.mit.edu	37	14	55817155	55817155	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:55817155C>T	uc001xbu.2	+	2	292	c.47C>T	c.(46-48)CCG>CTG	p.P16L	FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.P16L	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	16										ovary(2)|lung(2)|skin(1)	5						GAGCACCCCCCGGAAGTCAGC	0.423		NaN											0	0	0	0.020292	0	15	45				
PSEN1	5663	broad.mit.edu	37	14	73683862	73683862	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:73683862C>A	uc001xnr.2	+	11	1442	c.1158C>A	c.(1156-1158)TTC>TTA	p.F386L	PSEN1_uc001xnv.2_Missense_Mutation_p.F382L|PSEN1_uc010ark.2_Missense_Mutation_p.F382L|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	386	Required for interaction with CTNND2.|Required for interaction with CTNNB1.|Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGGAGATTTCATTTTCTACA	0.368		NaN											1	0	5.85753e-14	0.048971	6.17703e-14	51	74				
AHNAK2	113146	broad.mit.edu	37	14	105411641	105411641	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:105411641C>T	uc010axc.1	-	7	10267	c.10147G>A	c.(10147-10149)GAG>AAG	p.E3383K	AHNAK2_uc001ypx.2_Missense_Mutation_p.E3283K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3383						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTCCCTCGGGCACGTGG	0.632		NaN											0	0	0	0.048971	0	94	225				
TPM1	7168	broad.mit.edu	37	15	63354444	63354444	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:63354444G>C	uc002alg.2	+	7	861	c.670G>C	c.(670-672)GAG>CAG	p.E224Q	TPM1_uc002alh.2_Missense_Mutation_p.E224Q|TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.E224Q|TPM1_uc002alj.2_Missense_Mutation_p.E224Q|TPM1_uc002alk.2_Missense_Mutation_p.E224Q|TPM1_uc002all.2_Missense_Mutation_p.E224Q|TPM1_uc002alm.2_Missense_Mutation_p.E266Q|TPM1_uc010uie.1_Missense_Mutation_p.E224Q|TPM1_uc002alp.2_Missense_Mutation_p.E224Q|TPM1_uc010uif.1_Missense_Mutation_p.E188Q|TPM1_uc002alr.2_Missense_Mutation_p.E188Q|TPM1_uc002als.2_Missense_Mutation_p.E188Q|TPM1_uc010uig.1_Missense_Mutation_p.E188Q|TPM1_uc002alt.2_Missense_Mutation_p.E188Q|TPM1_uc010bgp.2_Missense_Mutation_p.E98Q	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	224	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						ATATGAGGAAGAGATCAAGGT	0.433		NaN											0	0	0	0.041601	0	28	69				
RPL4	6124	broad.mit.edu	37	15	66794183	66794183	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:66794183C>G	uc002apv.2	-	5	545	c.489G>C	c.(487-489)AAG>AAC	p.K163N	RPL4_uc010bhr.2_Missense_Mutation_p.K69N|RPL4_uc002apw.2_Missense_Mutation_p.K69N|RPL4_uc002apx.2_Missense_Mutation_p.K69N|RPL4_uc010ujq.1_Missense_Mutation_p.K163N|SNORD18C_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	163					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CTTCCTTGGTCTTCTTGTAGC	0.383		NaN											0	0	0	0.041601	0	31	49				
TPSG1	25823	broad.mit.edu	37	16	1271924	1271924	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271924G>C	uc002ckw.2	-	6	832	c.830C>G	c.(829-831)TCT>TGT	p.S277C		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	277					proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GGGGTACCCAGACTCTGAGCC	0.657		NaN											0	0	0	0.069234	0	10	22				
TPSG1	25823	broad.mit.edu	37	16	1271985	1271985	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271985G>A	uc002ckw.2	-	6	771	c.769C>T	c.(769-771)CGT>TGT	p.R257C		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	257	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GCAGGGACACGAGTGTAGACT	0.672		NaN											0	0	0	0.080935	0	11	28				
ITGAL	3683	broad.mit.edu	37	16	30521724	30521724	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:30521724G>A	uc002dyi.3	+	22	2727	c.2551G>A	c.(2551-2553)GAG>AAG	p.E851K	ITGAL_uc002dyj.3_Missense_Mutation_p.E767K|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	851	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTTCCTGAAGAGTCCAGGCT	0.532		NaN											0	0	0	0.039052	0	41	88				
IRX6	79190	broad.mit.edu	37	16	55362791	55362791	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:55362791G>C	uc002ehy.2	+	5	1434	c.901G>C	c.(901-903)GAG>CAG	p.E301Q	IRX6_uc002ehx.2_Missense_Mutation_p.E301Q	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						TGCAGCTCGAGAGGGCCGATT	0.597		NaN											0	0	0	0.069288	0	23	56				
CDH3	1001	broad.mit.edu	37	16	68716273	68716273	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:68716273C>T	uc002ewf.2	+	9	2197	c.1065C>T	c.(1063-1065)GAC>GAT	p.D355D	CDH3_uc010vli.1_Silent_p.D300D	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	355	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTGATCTGGACGCCCCCAACT	0.592		NaN											0	0	0	0.038395	0	17	28				
CYB5B	80777	broad.mit.edu	37	16	69458658	69458658	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:69458658C>T	uc002exg.1	+	1	161	c.72C>T	c.(70-72)GTC>GTT	p.V24V	CYB5B_uc002exf.2_Silent_p.V24V|CYB5B_uc010cfl.1_Silent_p.V24V	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane	20	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)				AGACCTCAGTCACCTATTACC	0.567		NaN											0	0	0	0.034045	0	28	52				
TCF25	22980	broad.mit.edu	37	16	89967083	89967083	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:89967083C>G	uc002fpb.2	+	12	1344	c.1262C>G	c.(1261-1263)TCT>TGT	p.S421C	TCF25_uc002fpc.2_Missense_Mutation_p.S186C	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	421					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTTGCCTTCTCTGTTCCACTG	0.532		NaN											0	0	0	0.045705	0	31	53				
DNAH2	146754	broad.mit.edu	37	17	7697658	7697658	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7697658C>G	uc002giu.1	+	48	7670	c.7656C>G	c.(7654-7656)ATC>ATG	p.I2552M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2552	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAACATTATCAACATGACCT	0.592		NaN											0	0	0	0.041601	0	29	42				
CNTROB	116840	broad.mit.edu	37	17	7843441	7843441	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7843441G>T	uc002gjq.2	+	10	2111	c.1192G>T	c.(1192-1194)GCC>TCC	p.A398S	CNTROB_uc002gjp.2_Missense_Mutation_p.A398S|CNTROB_uc002gjr.2_Missense_Mutation_p.A300S|CNTROB_uc010vum.1_Missense_Mutation_p.A110S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	398	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				AGCCCAGGCCGCCTGGGAGAC	0.532		NaN											1	0	1.06801e-11	0.041601	1.11278e-11	31	80				
PHOSPHO1	162466	broad.mit.edu	37	17	47302012	47302012	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:47302012G>A	uc010wlv.1	-	3	766	c.400C>T	c.(400-402)CGC>TGC	p.R134C	PHOSPHO1_uc002ios.2_Missense_Mutation_p.R159C	NM_178500	NP_848595	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1 isoform 2	134					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity				0			Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CCGGCGGCGCGCAGCGAGCTC	0.657		NaN											0	0	0	0.004672	0	3	6				
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:51901070C>T	uc002iua.2	+	1	832	c.676C>T	c.(676-678)CGA>TGA	p.R226*	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TCTCAACCAGCGAGAGACAAC	0.557		NaN											0	0	0	0.049695	0	20	33				
ABCA9	10350	broad.mit.edu	37	17	66972297	66972297	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:66972297G>T	uc002jhu.2	-	38	4898	c.4755C>A	c.(4753-4755)CTC>CTA	p.L1585L	ABCA9_uc010dez.2_Silent_p.L1547L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1585					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TAGACTGTGAGAGGCTGTACT	0.403		NaN											1	0	3.8784e-16	0.062417	4.14014e-16	21	63				
ACTG1	71	broad.mit.edu	37	17	79477994	79477994	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79477994T>C	uc002kaj.1	-	4	968	c.943A>G	c.(943-945)AAG>GAG	p.K315E	ACTG1_uc002kah.1_Missense_Mutation_p.K193E|ACTG1_uc002kai.1_Missense_Mutation_p.K272E|ACTG1_uc002kak.1_Missense_Mutation_p.K315E|ACTG1_uc010wun.1_Missense_Mutation_p.K315E|ACTG1_uc002kal.1_Missense_Mutation_p.K315E|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	315					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GTGATCTCCTTCTGCATCCTG	0.632		NaN											0	0	0	0.064281	0	36	66				
NPLOC4	55666	broad.mit.edu	37	17	79534448	79534448	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79534448G>C	uc002kat.3	-	15	1743	c.1561C>G	c.(1561-1563)CTG>GTG	p.L521V	NPLOC4_uc002kau.3_Missense_Mutation_p.L521V|NPLOC4_uc010wur.1_Missense_Mutation_p.L360V|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Silent_p.L44L	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	521					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCACCTGCAGAGGCATAACT	0.502		NaN											0	0	0	0.038147	0	8	11				
C18orf34	374864	broad.mit.edu	37	18	30554631	30554631	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:30554631C>G	uc002kxn.2	-	21	2545	c.2403G>C	c.(2401-2403)CAG>CAC	p.Q801H	C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.Q265H|C18orf34_uc010xbr.1_Missense_Mutation_p.Q825H|C18orf34_uc010dmf.1_Missense_Mutation_p.Q121H|C18orf34_uc002kxo.2_Missense_Mutation_p.Q763H|C18orf34_uc002kxp.2_Missense_Mutation_p.Q801H	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	801										ovary(1)	1						GCATCCTTCTCTGCAGCTGAC	0.502		NaN											0	0	0	0.024245	0	16	16				
KIAA1632	57724	broad.mit.edu	37	18	43534669	43534669	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43534669C>G	uc002lbm.2	-	2	799	c.699G>C	c.(697-699)GTG>GTC	p.V233V	KIAA1632_uc002lbo.1_Silent_p.V233V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	233					autophagy						0						GCAAGGGTTTCACTGCCACCA	0.483		NaN											0	0	0	0.09836	0	41	30				
KIAA1632	57724	broad.mit.edu	37	18	43535299	43535299	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43535299C>G	uc002lbm.2	-	2	169	c.69G>C	c.(67-69)AAG>AAC	p.K23N	KIAA1632_uc002lbo.1_Missense_Mutation_p.K23N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	23					autophagy						0						CATACTTCTTCTTTTCCTAAA	0.353		NaN											0	0	0	0.080935	0	12	12				
DAPK3	1613	broad.mit.edu	37	19	3959237	3959237	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:3959237G>A	uc002lzc.1	-	8	1320	c.1227C>T	c.(1225-1227)CTC>CTT	p.L409L	DAPK3_uc002lzb.1_Silent_p.L146L|DAPK3_uc002lzd.1_Silent_p.L409L	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	409	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGGCGCTTGAGGCCGCTGG	0.701		NaN											0	0	0	0.047766	0	8	9				
ADAMTS10	81794	broad.mit.edu	37	19	8661877	8661877	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:8661877A>G	uc002mkj.1	-	8	1308	c.1034T>C	c.(1033-1035)ATC>ACC	p.I345T	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	345	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TCACCGTGTGATGAGCACTGC	0.537		NaN											0	0	0	0.108266	0	27	62				
C19orf56	51398	broad.mit.edu	37	19	12780451	12780451	+	Translation_Start_Site	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780451G>C	uc002mud.2	-	1	15	c.-233C>G	c.(-235--231)ATCGG>ATGGG		MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_Intron|WDR83_uc002muc.2_Intron|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398							integral to membrane					0						GTTCCAACCCGATCACCGAAA	0.458		NaN											0	0	0	0.004672	0	3	4				
WDR83	84292	broad.mit.edu	37	19	12780828	12780828	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780828G>A	uc002mue.3	+	4	476	c.141G>A	c.(139-141)AAG>AAA	p.K47K	WDR83_uc002muc.2_RNA|C19orf56_uc002mud.2_5'Flank|WDR83_uc010dyw.2_Silent_p.K47K	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN	mitogen-activated protein kinase organizer 1	47	WD 1.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				lung(1)|breast(1)	2						GCAGTGACAAGACGCTGAAGC	0.677		NaN											0	0	0	0.074837	0	40	96				
NACC1	112939	broad.mit.edu	37	19	13246039	13246039	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:13246039G>C	uc002mwm.2	+	2	186	c.18G>C	c.(16-18)CAG>CAC	p.Q6H		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	6					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						AGACACTGCAGATGGAGATCC	0.627		NaN											0	0	0	0.105934	0	13	38				
ZNF492	57615	broad.mit.edu	37	19	22847622	22847622	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:22847622A>C	uc002nqw.3	+	4	1395	c.1151A>C	c.(1150-1152)AAG>ACG	p.K384T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	384	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTACACATAAGAGAATTCAT	0.378		NaN											0	0	0	0.069288	0	16	52				
MAP4K1	11184	broad.mit.edu	37	19	39098807	39098807	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39098807C>T	uc002oix.1	-	14	1118	c.1010G>A	c.(1009-1011)CGG>CAG	p.R337Q	MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Missense_Mutation_p.R337Q|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	337					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCATGTGCCGCCCTAGGGT	0.602		NaN											0	0	0	0.069234	0	9	25				
MED29	55588	broad.mit.edu	37	19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39883109G>C	uc002olf.2	+	2	322	c.285G>C	c.(283-285)TTG>TTC	p.L95F	PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.L95F|MED29_uc010xux.1_Intron	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	74	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433		NaN											0	0	0	0.076483	0	23	46				
PNMAL2	57469	broad.mit.edu	37	19	46998146	46998146	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:46998146C>T	uc002pes.2	-	1	1024	c.577G>A	c.(577-579)GAG>AAG	p.E193K	uc002peu.1_Missense_Mutation_p.S86L	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	193										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTCGGCCTCACTCCTCGCG	0.647		NaN											0	0	0	0.043863	0	20	37				
KCNC3	3748	broad.mit.edu	37	19	50826951	50826951	+	Missense_Mutation	SNP	C	C	T	rs104894699		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:50826951C>T	uc002pru.1	-	2	1554	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	KCNC3_uc002prt.1_Missense_Mutation_p.R56H	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	420	Helical; Voltage-sensor; Name=Segment S4; (Potential).		R -> H (in SCA13; loss of channel activity).		cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCGCAGGATGCGGACGAAGCG	0.657		NaN											0	0	0	0.020292	0	12	44				
LILRA4	23547	broad.mit.edu	37	19	54849825	54849825	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:54849825G>C	uc002qfj.2	-	3	254	c.197C>G	c.(196-198)TCA>TGA	p.S66*	LILRA4_uc002qfi.2_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	66	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTCGACATTGAGTTTCCCTC	0.532		NaN											0	0	0	0.104719	0	40	110				
ZNF543	125919	broad.mit.edu	37	19	57840563	57840563	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:57840563C>T	uc002qoi.1	+	4	2078	c.1733C>T	c.(1732-1734)TCA>TTA	p.S578L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCACAGACTTCAGTCAACATC	0.423		NaN											0	0	0	0.059317	0	37	62				
ASXL2	55252	broad.mit.edu	37	2	25990544	25990544	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:25990544G>C	uc002rgs.2	-	7	904	c.683C>G	c.(682-684)TCA>TGA	p.S228*	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	228	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGAGTTTGAGTTTTGAGG	0.413		NaN											0	0	0	0.069456	0	36	47				
NCKAP5	344148	broad.mit.edu	37	2	133542927	133542927	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:133542927G>A	uc002ttp.2	-	14	1831	c.1457C>T	c.(1456-1458)GCA>GTA	p.A486V	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	486							protein binding				0						TTGGAGCAATGCTAAGGTGGA	0.498		NaN											0	0	0	0.069456	0	35	79				
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:141625828G>A	uc002tvj.1	-	26	5146	c.4174C>T	c.(4174-4176)CTT>TTT	p.L1392F	LRP1B_uc010fnl.1_Missense_Mutation_p.L574F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1392	Extracellular (Potential).|LDL-receptor class B 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.249		NaN								TSP Lung(27;0.18)			0	0	0	0.038395	0	10	37				
TTN	7273	broad.mit.edu	37	2	179393575	179393575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179393575C>T	uc010zfg.1	-	309	99423	c.99199G>A	c.(99199-99201)GAT>AAT	p.D33067N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26762N|TTN_uc010zfi.1_Missense_Mutation_p.D26695N|TTN_uc010zfj.1_Missense_Mutation_p.D26570N|TTN_uc002umq.2_Missense_Mutation_p.D84N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33994							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTCACATCAGTGGCACCA	0.453		NaN											0	0	0	0.055883	0	20	34				
TTN	7273	broad.mit.edu	37	2	179430575	179430575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179430575C>T	uc010zfg.1	-	275	72804	c.72580G>A	c.(72580-72582)GAA>AAA	p.E24194K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17889K|TTN_uc010zfi.1_Missense_Mutation_p.E17822K|TTN_uc010zfj.1_Missense_Mutation_p.E17697K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25121							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCAAATTCATTTTCAGCC	0.433		NaN											0	0	0	0.048971	0	73	187				
IKZF2	22807	broad.mit.edu	37	2	213872226	213872226	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:213872226A>G	uc002vem.2	-	8	1608	c.1439T>C	c.(1438-1440)TTC>TCC	p.F480S	IKZF2_uc010fuu.2_Missense_Mutation_p.F335S|IKZF2_uc002vej.2_Missense_Mutation_p.F427S|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F406S|IKZF2_uc002vel.2_Missense_Mutation_p.F401S|IKZF2_uc010fuw.2_Missense_Mutation_p.F254S|IKZF2_uc010fux.2_Missense_Mutation_p.F254S|IKZF2_uc010fuy.2_Missense_Mutation_p.F408S|IKZF2_uc002ven.2_Missense_Mutation_p.F454S|IKZF2_uc002vei.2_Missense_Mutation_p.F258S	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	480	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATGGTCTAGGAAAAGGACTCG	0.512		NaN											0	0	0	0.055883	0	19	119				
RNPEPL1	57140	broad.mit.edu	37	2	241514466	241514466	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:241514466G>T	uc002vzi.2	+	7	1208	c.615G>T	c.(613-615)CTG>CTT	p.L205L	RNPEPL1_uc010fzf.2_Silent_p.L111L|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	205					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCAGCCACCTGATGAACCTGT	0.587		NaN											1	0	3.41278e-10	0.0333	3.51375e-10	15	112				
KCNB1	3745	broad.mit.edu	37	20	48098781	48098781	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:48098781G>A	uc002xur.1	-	1	401	c.237C>T	c.(235-237)GAC>GAT	p.D79D	KCNB1_uc002xus.1_Silent_p.D79D	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	79	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTCGTTGTCGTCGAGGCTGT	0.647		NaN											0	0	0	0.028581	0	16	21				
NFATC2	4773	broad.mit.edu	37	20	50051848	50051848	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:50051848T>C	uc002xwd.2	-	8	2129	c.1909A>G	c.(1909-1911)ATG>GTG	p.M637V	NFATC2_uc002xwc.2_Missense_Mutation_p.M637V|NFATC2_uc010zyv.1_Missense_Mutation_p.M418V|NFATC2_uc010zyw.1_Missense_Mutation_p.M418V|NFATC2_uc010zyx.1_Missense_Mutation_p.M617V|NFATC2_uc010zyy.1_Missense_Mutation_p.M418V|NFATC2_uc010zyz.1_Missense_Mutation_p.M418V|NFATC2_uc002xwe.2_Missense_Mutation_p.M617V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	637					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					ACAAAAAGCATGTTCTATAAG	0.453		NaN											0	0	0	0.048971	0	51	103				
SRMS	6725	broad.mit.edu	37	20	62173828	62173828	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:62173828C>T	uc002yfi.1	-	4	793	c.752G>A	c.(751-753)GGC>GAC	p.G251D		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	251	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGCAGGGAGCCCAGCCACAG	0.672		NaN											0	0	0	0.080935	0	10	24				
RWDD2B	10069	broad.mit.edu	37	21	30380387	30380387	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:30380387G>A	uc002yms.2	-	4	507	c.420C>T	c.(418-420)TTC>TTT	p.F140F	RWDD2B_uc002ymt.2_Silent_p.F111F|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Silent_p.F60F	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	140	RWD.										0						GTTTTTGCAGGAATGCAGTCA	0.398		NaN											0	0	0	0.055883	0	20	59				
RSPH1	89765	broad.mit.edu	37	21	43897508	43897508	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:43897508G>A	uc002zbg.2	-	7	725	c.620C>T	c.(619-621)CCA>CTA	p.P207L		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	207					meiosis	cytosol|nucleus				ovary(1)	1						TTTCCATTTTGGAACAACAGT	0.453		NaN											0	0	0	0.054565	0	30	61				
SLC19A1	6573	broad.mit.edu	37	21	46951324	46951324	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:46951324C>T	uc002zhl.1	-	3	1047	c.928G>A	c.(928-930)GAT>AAT	p.D310N	SLC19A1_uc010gpy.1_Missense_Mutation_p.D310N|SLC19A1_uc011aft.1_Missense_Mutation_p.D270N|SLC19A1_uc002zhm.1_Missense_Mutation_p.D310N|SLC19A1_uc010gpz.1_Missense_Mutation_p.D189N	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	310	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAGGCAGCATCTGCCGCGCCG	0.662		NaN											0	0	0	0.037714	0	28	78				
THOC5	8563	broad.mit.edu	37	22	29917011	29917011	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:29917011T>C	uc003afr.2	-	14	1588	c.1253A>G	c.(1252-1254)AAT>AGT	p.N418S	THOC5_uc003afq.2_Missense_Mutation_p.N79S|THOC5_uc003afs.2_Missense_Mutation_p.N418S|THOC5_uc003aft.2_Missense_Mutation_p.N418S|THOC5_uc003afu.2_Missense_Mutation_p.N418S|THOC5_uc010gvo.2_Missense_Mutation_p.N162S	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	418					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						CTGATACTGATTGGCTGGATT	0.463		NaN											0	0	0	0.048971	0	67	153				
ASCC2	84164	broad.mit.edu	37	22	30198142	30198142	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:30198142G>A	uc003agr.2	-	14	1514	c.1409C>T	c.(1408-1410)TCT>TTT	p.S470F	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.S470F|ASCC2_uc011akr.1_Missense_Mutation_p.S394F	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	470	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGAGATGAGAGAGTCCAGTTC	0.607		NaN											0	0	0	0.037714	0	27	46				
APOBEC3H	164668	broad.mit.edu	37	22	39497957	39497957	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:39497957C>T	uc011aoh.1	+	4	519	c.453C>T	c.(451-453)CAC>CAT	p.H151H	APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	151					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)					TTGTGGACCACGAGAAACCGC	0.522		NaN											0	0	0	0.030593	0	28	52				
LRRN1	57633	broad.mit.edu	37	3	3886477	3886477	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:3886477G>A	uc003bpt.3	+	2	913	c.152G>A	c.(151-153)AGA>AAA	p.R51K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	51	LRRNT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAACTTACAGAGAAGCCACC	0.438		NaN											0	0	0	0.080422	0	37	92				
IL17RC	84818	broad.mit.edu	37	3	9974314	9974314	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:9974314C>T	uc003bua.2	+	17	1859	c.1623C>T	c.(1621-1623)CTC>CTT	p.L541L	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Silent_p.L470L|IL17RC_uc011atp.1_Silent_p.L309L|IL17RC_uc003bud.2_Silent_p.L11L|IL17RC_uc003bub.2_Silent_p.L455L|IL17RC_uc010hct.2_Silent_p.L470L|IL17RC_uc010hcu.2_Silent_p.L453L|IL17RC_uc010hcv.2_Silent_p.L438L|IL17RC_uc011atq.1_Silent_p.L455L|IL17RC_uc003buc.2_Silent_p.L11L|IL17RC_uc003bue.2_Silent_p.L106L|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	541	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GCTGGGCCCTCGTGTGGCTGG	0.532		NaN									OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.054565	0	32	77				
SMARCC1	6599	broad.mit.edu	37	3	47717003	47717003	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:47717003G>C	uc003crq.2	-	18	1919	c.1801C>G	c.(1801-1803)CTC>GTC	p.L601V	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.L492V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	601					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAGTACGGAGACCAAAGTTC	0.378		NaN											0	0	0	0.038395	0	16	36		Valid		
IP6K2	51447	broad.mit.edu	37	3	48732710	48732710	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:48732710G>A	uc003cup.2	-	2	259	c.15C>T	c.(13-15)TTC>TTT	p.F5F	IP6K2_uc003cuq.2_Silent_p.F5F|IP6K2_uc011bbq.1_Silent_p.F5F|IP6K2_uc011bbr.1_Silent_p.F5F|IP6K2_uc003cur.2_Silent_p.F5F|IP6K2_uc003cus.2_Silent_p.F5F|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.F60F|IP6K2_uc003cuv.1_Nonsense_Mutation_p.Q131*|IP6K2_uc011bbu.1_Silent_p.F59F|IP6K2_uc011bbv.1_Silent_p.F63F|IP6K2_uc003cuw.1_Nonsense_Mutation_p.Q130*	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	5					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CCATGGCCCTGAAGGCTGGGC	0.637		NaN											0	0	0	0.069288	0	24	26				
ACTR8	93973	broad.mit.edu	37	3	53907147	53907147	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:53907147G>A	uc003dhd.2	-	9	1132	c.1073C>T	c.(1072-1074)TCT>TTT	p.S358F	ACTR8_uc003dhb.2_Missense_Mutation_p.S63F|ACTR8_uc003dhc.2_Missense_Mutation_p.S247F	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	358					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGAAGCCCAGAGATGTCCTG	0.418		NaN											0	0	0	0.080935	0	10	14				
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:97868522A>C	uc003dsg.1	+	1	293	c.293A>C	c.(292-294)AAG>ACG	p.K98T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTGAATGCAAGATACAGTTG	0.383		NaN											0	0	0	0.048971	0	100	202				
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:121980624G>C	uc003eev.3	+	4	1114	c.742G>C	c.(742-744)GAT>CAT	p.D248H	CASR_uc003eew.3_Missense_Mutation_p.D248H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	248	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502		NaN											0	0	0	0.048971	0	60	157				
PLXND1	23129	broad.mit.edu	37	3	129303367	129303367	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:129303367G>C	uc003emx.2	-	6	1990	c.1890C>G	c.(1888-1890)CTC>CTG	p.L630L		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	630	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CCATGCCACTGAGGCTGGGCA	0.637		NaN											0	0	0	0.074837	0	38	54				
PAQR9	344838	broad.mit.edu	37	3	142681210	142681210	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:142681210G>A	uc003evg.2	-	1	969	c.969C>T	c.(967-969)TAC>TAT	p.Y323Y	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	323	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ACACCTGGTCGTAGATGCTGA	0.597		NaN											0	0	0	0.069234	0	11	108				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.076483	0	22	9		Valid		
GABRA4	2557	broad.mit.edu	37	4	46967082	46967082	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:46967082G>C	uc003gxg.2	-	8	1178	c.1039C>G	c.(1039-1041)CAA>GAA	p.Q347E		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	347	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTCCATTTGAATATTGGTG	0.478		NaN											0	0	0	0.099896	0	26	68				
AASDH	132949	broad.mit.edu	37	4	57220365	57220365	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:57220365C>G	uc003hbn.2	-	8	1376	c.1223G>C	c.(1222-1224)AGA>ACA	p.R408T	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.R255T|AASDH_uc003hbo.2_Missense_Mutation_p.R308T|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.R408T|AASDH_uc003hbp.2_Missense_Mutation_p.R408T	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	408					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAACACACTCTGTTTCTGCC	0.373		NaN											0	0	0	0.09319	0	12	51				
RASA1	5921	broad.mit.edu	37	5	86672272	86672272	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:86672272C>G	uc003kiw.2	+	16	2192	c.2074C>G	c.(2074-2076)CTC>GTC	p.L692V	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L515V|RASA1_uc011ctv.1_Missense_Mutation_p.L525V|RASA1_uc011ctw.1_Missense_Mutation_p.L526V|RASA1_uc010jaw.2_Missense_Mutation_p.L514V	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	692					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATGGTTTCTGCTCAGCTCCCA	0.423		NaN											0	0	0	0.080935	0	12	17				
PCDHB1	29930	broad.mit.edu	37	5	140432013	140432013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:140432013C>T	uc003lik.1	+	1	1035	c.958C>T	c.(958-960)CAA>TAA	p.Q320*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	320	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGACATTCAAGCTACAGA	0.473		NaN											0	0	0	0.048971	0	52	42				
MSH5	4439	broad.mit.edu	37	6	31712335	31712335	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:31712335G>A	uc003nwv.1	+	8	739	c.660G>A	c.(658-660)GTG>GTA	p.V220V	MSH5_uc003nwt.1_Silent_p.V237V|MSH5_uc003nwu.1_Silent_p.V220V|MSH5_uc003nww.1_Silent_p.V220V|MSH5_uc003nwx.1_Silent_p.V237V|MSH5_uc011dof.1_5'UTR	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	220					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CTCATCTGGTGAACATAGATC	0.463		NaN						Direct_reversal_of_damage|MMR					0	0	0	0.059317	0	33	49				
EEF1A1	1915	broad.mit.edu	37	6	74229729	74229729	+	Silent	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229729A>G	uc003phi.2	-	1	58	c.21T>C	c.(19-21)CAT>CAC	p.H7H	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.H7H|EEF1A1_uc003phf.2_Silent_p.H7H|EEF1A1_uc003phg.2_Silent_p.H7H|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.H7H|EEF1A1_uc003phk.2_Silent_p.H7H|EEF1A1_uc003phl.2_Silent_p.H7H|EEF1A1_uc003phm.1_RNA	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	7						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						CAATGTTGATATGAGTCTTTT	0.423		NaN											0	0	0	0.034045	0	31	52				
ZNF292	23036	broad.mit.edu	37	6	87967337	87967337	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:87967337C>T	uc003plm.3	+	8	4031	c.3990C>T	c.(3988-3990)TTC>TTT	p.F1330F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAATAACTTCAGTAGCACCA	0.428		NaN											0	0	0	0.014758	0	5	12				
TIAM2	26230	broad.mit.edu	37	6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:155566797C>T	uc003qqb.2	+	21	4857	c.3584C>T	c.(3583-3585)GCG>GTG	p.A1195V	TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1195	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403		NaN											0	0	0	0.048971	0	86	217				
SNX9	51429	broad.mit.edu	37	6	158330750	158330750	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:158330750G>C	uc003qqv.1	+	8	932	c.759G>C	c.(757-759)GTG>GTC	p.V253V		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	253	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TTGACTGTGTGGTAGCAGATC	0.393		NaN											0	0	0	0.041601	0	32	77				
POLD2	5425	broad.mit.edu	37	7	44157603	44157603	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:44157603A>T	uc010kxz.2	-	4	931	c.281T>A	c.(280-282)GTG>GAG	p.V94E	POLD2_uc003tke.3_Missense_Mutation_p.V94E|POLD2_uc010kya.2_Missense_Mutation_p.V94E|POLD2_uc003tkf.3_Missense_Mutation_p.V94E	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	94					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						CAGAGTGCCCACCACACAGCA	0.622		NaN											0	0	0	0.064281	0	37	59				
AUTS2	26053	broad.mit.edu	37	7	70255358	70255358	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:70255358C>T	uc003tvw.3	+	19	3899	c.3156C>T	c.(3154-3156)ATC>ATT	p.I1052I	AUTS2_uc003tvx.3_Silent_p.I1028I|AUTS2_uc011keg.1_Silent_p.I504I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1052										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGGGCATCAGCCCCCTCC	0.622		NaN											0	0	0	0.02938	0	6	23				
HEPACAM2	253012	broad.mit.edu	37	7	92848628	92848628	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:92848628T>A	uc003umm.2	-	2	239	c.216A>T	c.(214-216)AGA>AGT	p.R72S	HEPACAM2_uc003uml.2_Missense_Mutation_p.R60S|HEPACAM2_uc010lff.2_Missense_Mutation_p.R60S|HEPACAM2_uc011khy.1_Missense_Mutation_p.R95S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	72	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						TTGTGTGGGGTCTCTCAAATA	0.498		NaN											0	0	0	0.041601	0	32	60				
ASB4	51666	broad.mit.edu	37	7	95165854	95165854	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:95165854G>A	uc011kij.1	+	4	1084	c.1084G>A	c.(1084-1086)GAC>AAC	p.D362N		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	362					intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCCGATGATGACTTGGAGGT	0.388		NaN											0	0	0	0.105934	0	13	37				
LMTK2	22853	broad.mit.edu	37	7	97821587	97821587	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:97821587G>C	uc003upd.1	+	11	2103	c.1810G>C	c.(1810-1812)GAG>CAG	p.E604Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	604					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGTACAGATGAGGACTTCTT	0.517		NaN											0	0	0	0.043863	0	19	39				
MLL5	55904	broad.mit.edu	37	7	104730618	104730618	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104730618G>A	uc003vcm.2	+	14	2055	c.1521G>A	c.(1519-1521)CAG>CAA	p.Q507Q	MLL5_uc010lja.1_Silent_p.Q361Q|MLL5_uc010ljb.1_Silent_p.Q507Q|MLL5_uc003vcl.2_Silent_p.Q507Q|MLL5_uc010ljc.2_Silent_p.Q507Q|MLL5_uc003vco.1_RNA|MLL5_uc010ljd.1_3'UTR	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	507					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CACAAAATCAGAATATTACTT	0.328		NaN											0	0	0	0.034045	0	30	65				
MLL5	55904	broad.mit.edu	37	7	104731737	104731737	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731737G>A	uc003vcm.2	+	15	2232	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	MLL5_uc003vcl.2_Silent_p.Q566Q|MLL5_uc010ljc.2_Silent_p.Q566Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	566	Potential.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CAGAGGAGCAGATTGCAGAAA	0.378		NaN											0	0	0	0.058154	0	5	28				
MLL5	55904	broad.mit.edu	37	7	104731744	104731744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731744G>A	uc003vcm.2	+	15	2239	c.1705G>A	c.(1705-1707)GAA>AAA	p.E569K	MLL5_uc003vcl.2_Missense_Mutation_p.E569K|MLL5_uc010ljc.2_Missense_Mutation_p.E569K	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	569	Potential.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCAGATTGCAGAAAGGAAAAG	0.383		NaN											0	0	0	0.058154	0	4	27				
MLL5	55904	broad.mit.edu	37	7	104731755	104731755	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731755G>A	uc003vcm.2	+	15	2250	c.1716G>A	c.(1714-1716)AGG>AGA	p.R572R	MLL5_uc003vcl.2_Silent_p.R572R|MLL5_uc010ljc.2_Silent_p.R572R	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	572	Potential.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AAAGGAAAAGGAAGATGGTAA	0.373		NaN											0	0	0	0.038147	0	4	23				
OR6V1	346517	broad.mit.edu	37	7	142750161	142750161	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:142750161C>A	uc011ksv.1	+	1	724	c.724C>A	c.(724-726)CAC>AAC	p.H242N		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					TTGCGGGTCTCACCTCACACT	0.552		NaN											1	0	1.07234e-20	0.048971	1.15178e-20	50	120				
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357737G>C	uc003ykr.1	-	8	806	c.773C>G	c.(772-774)TCT>TGT	p.S258C	UBR5_uc003yks.1_Missense_Mutation_p.S258C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	258				S -> Y (in Ref. 2; AAF88143).	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGGTGGGCAGAATGAATGTC	0.413		NaN											0	0	0	0.080935	0	10	25				
UBR5	51366	broad.mit.edu	37	8	103357753	103357753	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357753C>G	uc003ykr.1	-	8	790	c.757G>C	c.(757-759)GAT>CAT	p.D253H	UBR5_uc003yks.1_Missense_Mutation_p.D253H	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	253					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGTCGGCATCAAGGAGAGAC	0.403		NaN											0	0	0	0.028581	0	13	25				
CPSF1	29894	broad.mit.edu	37	8	145624217	145624217	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:145624217G>A	uc003zcj.2	-	17	1665	c.1590C>T	c.(1588-1590)CCC>CCT	p.P530P		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	530					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CATAGCAGCCGGGAAGCTCAA	0.637		NaN											0	0	0	0.038147	0	6	159				
BSPRY	54836	broad.mit.edu	37	9	116132396	116132396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116132396G>C	uc004bhg.3	+	6	1231	c.1183G>C	c.(1183-1185)GAT>CAT	p.D395H	BSPRY_uc010muw.2_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	395	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)	1						TGCTGTGGCCGATCAGACCAT	0.592		NaN											0	0	0	0.104719	0	39	30				
COL27A1	85301	broad.mit.edu	37	9	116999271	116999271	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116999271G>A	uc011lxl.1	+	18	2630	c.2630G>A	c.(2629-2631)GGG>GAG	p.G877E	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	877	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGAGCCAGGGGTTGCCAGGG	0.622		NaN											0	0	0	0.09319	0	12	10				
SPTAN1	6709	broad.mit.edu	37	9	131370245	131370245	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370245G>A	uc004bvl.3	+	33	4374	c.4261G>A	c.(4261-4263)GAT>AAT	p.D1421N	SPTAN1_uc004bvm.3_Missense_Mutation_p.D1421N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1401N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1421	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GCAGAAACTTGATATTCTTGA	0.547		NaN											0	0	0	0.034045	0	29	18				
SPTAN1	6709	broad.mit.edu	37	9	131370275	131370275	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370275G>C	uc004bvl.3	+	33	4404	c.4291G>C	c.(4291-4293)GAG>CAG	p.E1431Q	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1431Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1411Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1431	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGCAGACCTGGAGAAGGCCTG	0.532		NaN											0	0	0	0.034045	0	30	28				
SPTAN1	6709	broad.mit.edu	37	9	131370487	131370487	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370487G>A	uc004bvl.3	+	34	4536	c.4423G>A	c.(4423-4425)GAC>AAC	p.D1475N	SPTAN1_uc004bvm.3_Missense_Mutation_p.D1475N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1455N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1475	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGACAAAGGAGACTCACTGGA	0.522		NaN											0	0	0	0.048971	0	82	62				
SPTAN1	6709	broad.mit.edu	37	9	131371219	131371219	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371219G>A	uc004bvl.3	+	35	4671	c.4558G>A	c.(4558-4560)GGA>AGA	p.G1520R	SPTAN1_uc004bvm.3_Missense_Mutation_p.G1520R|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1500R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1520	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TTATGCCAAGGGAGACATTTC	0.552		NaN											0	0	0	0.048971	0	46	92				
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371243G>A	uc004bvl.3	+	35	4695	c.4582G>A	c.(4582-4584)GAG>AAG	p.E1528K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1528	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCGGCGCAATGAGGTCTTGGA	0.572		NaN											0	0	0	0.069456	0	37	64				
SPTAN1	6709	broad.mit.edu	37	9	131371429	131371429	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371429G>A	uc004bvl.3	+	36	4737	c.4624G>A	c.(4624-4626)GAG>AAG	p.E1542K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1542K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1522K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1542	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCAGATGATTGAGAAAAGGTC	0.473		NaN											0	0	0	0.037714	0	30	37				
SPTAN1	6709	broad.mit.edu	37	9	131371495	131371495	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371495G>A	uc004bvl.3	+	36	4803	c.4690G>A	c.(4690-4692)GAG>AAG	p.E1564K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1564K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1544K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1564	Spectrin 17.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGATGAGATTGAGGCTTGGAT	0.478		NaN											0	0	0	0.037714	0	28	21				
SPTAN1	6709	broad.mit.edu	37	9	131374105	131374105	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374105G>A	uc004bvl.3	+	37	4984	c.4871G>A	c.(4870-4872)GGC>GAC	p.G1624D	SPTAN1_uc004bvm.3_Missense_Mutation_p.G1629D|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1604D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1624	Spectrin 17.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GCCTGTGCCGGCAGTGAGGAT	0.557		NaN											0	0	0	0.055883	0	14	21				
SPTAN1	6709	broad.mit.edu	37	9	131374110	131374110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374110G>A	uc004bvl.3	+	37	4989	c.4876G>A	c.(4876-4878)GAG>AAG	p.E1626K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1631K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1606K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1626	Spectrin 17.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGCCGGCAGTGAGGATGCTGT	0.557		NaN											0	0	0	0.043863	0	13	19				
SPTAN1	6709	broad.mit.edu	37	9	131377919	131377919	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131377919G>A	uc004bvl.3	+	40	5255	c.5142G>A	c.(5140-5142)CTG>CTA	p.L1714L	SPTAN1_uc004bvm.3_Silent_p.L1719L|SPTAN1_uc004bvn.3_Silent_p.L1694L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1714	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGGATCGCCTGAAGGACCTGA	0.542		NaN											0	0	0	0.038395	0	16	23				
SPTAN1	6709	broad.mit.edu	37	9	131378027	131378027	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378027G>C	uc004bvl.3	+	40	5363	c.5250G>C	c.(5248-5250)AAG>AAC	p.K1750N	SPTAN1_uc004bvm.3_Missense_Mutation_p.K1755N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1730N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1750	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGAAGATCAAGAGCATGGCGG	0.567		NaN											0	0	0	0.069288	0	24	30				
SPTAN1	6709	broad.mit.edu	37	9	131378038	131378038	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378038C>T	uc004bvl.3	+	40	5374	c.5261C>T	c.(5260-5262)GCC>GTC	p.A1754V	SPTAN1_uc004bvm.3_Missense_Mutation_p.A1759V|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1734V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1754	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGCATGGCGGCCTCCCGGCGA	0.572		NaN											0	0	0	0.049695	0	21	27				
EPHA8	2046	broad.mit.edu	37	1	22922604	22922604	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:22922604G>T	uc001bfx.1	+	9	1828	c.1703G>T	c.(1702-1704)TGT>TTT	p.C568F		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	568	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCAGGCACTGTGGCTACAGC	0.637		NaN											1	0	8.16277e-20	0.027894	8.86362e-20	40	50				
CSMD2	114784	broad.mit.edu	37	1	34209159	34209159	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:34209159G>A	uc001bxn.1	-	14	1804	c.1775C>T	c.(1774-1776)CCC>CTC	p.P592L	CSMD2_uc001bxm.1_Missense_Mutation_p.P632L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	592	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGTAGTTGGGAGACAGGAC	0.572		NaN											0	0	0	0.038147	0	8	102				
BNIPL	149428	broad.mit.edu	37	1	151018593	151018593	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:151018593C>A	uc001ewl.2	+	9	1162	c.989C>A	c.(988-990)GCC>GAC	p.A330D	BNIPL_uc009wmi.2_Missense_Mutation_p.A248D|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	330	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGAGCTGGCCCAACTCATA	0.453		NaN											1	0	7.04047e-22	0.023175	7.72297e-22	37	40				
FLG	2312	broad.mit.edu	37	1	152280711	152280711	+	Silent	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:152280711G>T	uc001ezu.1	-	3	6687	c.6651C>A	c.(6649-6651)GCC>GCA	p.A2217A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2217	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCAAGAGG	0.552		NaN							Ichthyosis				1	0	4.53876e-58	0.048971	5.30344e-58	206	656				
ADAM15	8751	broad.mit.edu	37	1	155030474	155030474	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:155030474G>A	uc001fgr.1	+	14	1665	c.1564G>A	c.(1564-1566)GGG>AGG	p.G522R	ADAM15_uc001fgq.1_Missense_Mutation_p.G207R|ADAM15_uc010pet.1_Missense_Mutation_p.G506R|ADAM15_uc010peu.1_Missense_Mutation_p.G539R|ADAM15_uc001fgt.1_Missense_Mutation_p.G522R|ADAM15_uc010pev.1_Missense_Mutation_p.G532R|ADAM15_uc001fgs.1_Missense_Mutation_p.G522R|ADAM15_uc001fgu.1_Missense_Mutation_p.G522R|ADAM15_uc001fgw.1_Missense_Mutation_p.G522R|ADAM15_uc001fgv.1_Missense_Mutation_p.G522R|ADAM15_uc001fgx.1_Missense_Mutation_p.G522R|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	522	Extracellular (Potential).|Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGCATGCACGGGCGTTGTGC	0.632		NaN											0	0	0	0.027894	0	39	108				
F5	2153	broad.mit.edu	37	1	169511786	169511786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:169511786G>A	uc001ggg.1	-	13	2687	c.2542C>T	c.(2542-2544)CGT>TGT	p.R848C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	848	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAAAGTAGACGTATCCCTGTG	0.458		NaN											0	0	0	0.048971	0	97	233				
HMCN1	83872	broad.mit.edu	37	1	186014962	186014962	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186014962C>T	uc001grq.1	+	41	6676	c.6447C>T	c.(6445-6447)GGC>GGT	p.G2149G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2149	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGAAACCAGGCCTCAGTATAT	0.378		NaN											0	0	0	0.021523	0	25	58				
HMCN1	83872	broad.mit.edu	37	1	186158668	186158668	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186158668C>T	uc001grq.1	+	107	16795	c.16566C>T	c.(16564-16566)CCC>CCT	p.P5522P	HMCN1_uc001grs.1_Silent_p.P974P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5522					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACTGTCCACCCAATGATTTGG	0.438		NaN											0	0	0	0.048971	0	47	61				
RGS13	6003	broad.mit.edu	37	1	192628536	192628536	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:192628536T>C	uc001gsj.2	+	7	644	c.363T>C	c.(361-363)TTT>TTC	p.F121F	RGS13_uc001gsk.2_Silent_p.F121F	NM_002927	NP_002918	O14921	RGS13_HUMAN	regulator of G-protein signalling 13	121	RGS.					plasma membrane	GTPase activator activity|signal transducer activity				0						AAACATGTTTTGAAGAAGCTC	0.353		NaN											0	0	0	0.048971	0	45	25				
ZBTB41	360023	broad.mit.edu	37	1	197128821	197128821	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:197128821G>T	uc001gtx.1	-	10	2467	c.2398C>A	c.(2398-2400)CAG>AAG	p.Q800K	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GATACATTCTGTAACATCGTC	0.443		NaN											1	0	5.57489e-27	0.048971	6.2754e-27	56	125				
USH2A	7399	broad.mit.edu	37	1	216498861	216498861	+	Missense_Mutation	SNP	C	C	T	rs3820464		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:216498861C>T	uc001hku.1	-	6	1316	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	USH2A_uc001hkv.2_Missense_Mutation_p.R310Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	310	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGACCCGCGGGTGGCT	0.532		NaN								HNSCC(13;0.011)			0	0	0	0.048971	0	93	60				
C1orf95	375057	broad.mit.edu	37	1	226784667	226784667	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:226784667A>G	uc010pvn.1	+	2	472	c.367A>G	c.(367-369)ATG>GTG	p.M123V		NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	hypothetical protein LOC375057	123						integral to membrane				ovary(1)	1	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGGCATGGACATGGTCATCCT	0.592		NaN											0	0	0	0.013537	0	13	200				
RYR2	6262	broad.mit.edu	37	1	237730002	237730002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:237730002G>A	uc001hyl.1	+	28	3470	c.3350G>A	c.(3349-3351)TGG>TAG	p.W1117*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1117	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGTTGGTTGGAGTCGTCCT	0.532		NaN											0	0	0	0.048971	0	114	325				
OR2W3	343171	broad.mit.edu	37	1	248059029	248059029	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248059029G>A	uc001idp.1	+	3	410	c.141G>A	c.(139-141)CTG>CTA	p.L47L	OR2W3_uc010pzb.1_Silent_p.L47L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATCATCCTGGTGTCCCGGC	0.592		NaN											0	0	0	0.028581	0	15	343				
OR2L8	391190	broad.mit.edu	37	1	248113003	248113003	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248113003C>T	uc001idt.1	+	1	844	c.844C>T	c.(844-846)CCA>TCA	p.P282S	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCCTCACCCCAATGCTCAA	0.483		NaN											0	0	0	0.019004	0	32	108				
IDI2	91734	broad.mit.edu	37	10	1066766	1066766	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:1066766C>T	uc001ifv.1	-	4	372	c.307G>A	c.(307-309)GGA>AGA	p.G103R	C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	103	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTCCTCACTCCGATGGCATCC	0.542		NaN											0	0	0	0.014323	0	22	29				
CUBN	8029	broad.mit.edu	37	10	16994309	16994309	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:16994309C>T	uc001ioo.2	-	33	4987	c.4935G>A	c.(4933-4935)CAG>CAA	p.Q1645Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1645	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGCAGTTCTGATTGTTTG	0.478		NaN											0	0	0	0.048971	0	49	65				
MPP7	143098	broad.mit.edu	37	10	28358781	28358782	+	Splice_Site	DNP	CC	CC	AA			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:28358781_28358782CC>AA	uc001iua.1	-	15	1528	c.1124_splice	c.e15-1	p.G375_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.G375_splice|MPP7_uc009xla.2_Splice_Site_p.G375_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7						establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TCCCACGGGACCTGAAAAACAG	0.46		NaN											0	0	0	0.004672	0	13	16				
ADAMTS14	140766	broad.mit.edu	37	10	72520532	72520532	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:72520532C>G	uc001jrh.2	+	22	3595	c.3595C>G	c.(3595-3597)CCT>GCT	p.P1199A	ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1202A	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1199	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TACGCCAGTCCCTGAGGACAA	0.647		NaN											0	0	0	0.059317	0	32	64				
DDIT4	54541	broad.mit.edu	37	10	74034625	74034625	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:74034625G>A	uc001jsx.1	+	3	580	c.378G>A	c.(376-378)CAG>CAA	p.Q126Q		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	126					apoptosis					pancreas(1)	1						TGGTAAGCCAGGTGGGCAAAG	0.692		NaN									OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.048971	0	67	107				
KNDC1	85442	broad.mit.edu	37	10	134981802	134981802	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:134981802G>C	uc001llz.1	+	3	347	c.346G>C	c.(346-348)GGG>CGG	p.G116R	KNDC1_uc001lma.1_Missense_Mutation_p.G51R	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	116	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGACGTGACCGGGAACACCTT	0.562		NaN											0	0	0	0.048971	0	63	98				
DBX1	120237	broad.mit.edu	37	11	20180780	20180780	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:20180780G>A	uc001mpw.1	-	2	426	c.426C>T	c.(424-426)TTC>TTT	p.F142F		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	142					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAGACCCTTCGAAGTAGGGAA	0.602		NaN											0	0	0	0.02938	0	7	128				
QSER1	79832	broad.mit.edu	37	11	32954330	32954330	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:32954330G>T	uc001mty.2	+	4	1406	c.1139G>T	c.(1138-1140)GGG>GTG	p.G380V	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	380	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ACTTTTTCTGGGTCATCTCAG	0.383		NaN											1	0	2.13384e-23	0.048971	2.35269e-23	46	69				
TTC17	55761	broad.mit.edu	37	11	43465060	43465060	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:43465060G>A	uc001mxi.2	+	17	2451	c.2437G>A	c.(2437-2439)GGT>AGT	p.G813S	TTC17_uc001mxh.2_Missense_Mutation_p.G870S|TTC17_uc010rfj.1_Missense_Mutation_p.G813S|TTC17_uc001mxj.2_Missense_Mutation_p.G640S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	813							binding			ovary(5)	5						GCTGAAGAAAGGTCCCCAGGA	0.488		NaN											0	0	0	0.038147	0	8	97				
SSRP1	6749	broad.mit.edu	37	11	57100511	57100511	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:57100511G>A	uc001njt.2	-	5	726	c.459C>T	c.(457-459)AAC>AAT	p.N153N	SSRP1_uc010rjq.1_Silent_p.N153N	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	153					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						CTGCGTCATCGTTTTGGTGGA	0.557		NaN											0	0	0	0.048971	0	76	98				
MAP3K11	4296	broad.mit.edu	37	11	65375774	65375774	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:65375774C>T	uc001oew.2	-	2	1378	c.885G>A	c.(883-885)AAG>AAA	p.K295K	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.K38K|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	295	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						AGGTGGAGGCCTTGATAACCT	0.627		NaN											0	0	0	0.016522	0	22	63				
GRM5	2915	broad.mit.edu	37	11	88583193	88583193	+	Silent	SNP	G	G	A	rs145650472		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:88583193G>A	uc001pcq.2	-	2	992	c.792C>T	c.(790-792)CTC>CTT	p.L264L	GRM5_uc009yvm.2_Silent_p.L264L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	264	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGTGACTTGTGAGCTTCTTCA	0.547		NaN											0	0	0	0.041601	0	27	42				
CNTN5	53942	broad.mit.edu	37	11	99944885	99944886	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:99944885_99944886CC>AA	uc001pga.2	+	13	1778_1779	c.1439_1440CC>AA	c.(1438-1440)CCC>CAA	p.P480Q	CNTN5_uc009ywv.1_Missense_Mutation_p.P480Q|CNTN5_uc001pfz.2_Missense_Mutation_p.P480Q|CNTN5_uc001pgb.2_Missense_Mutation_p.P406Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	480	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTTCAGCTCCCACTTTTGCAC	0.366		NaN											0	0	0	0.004672	0	11	8				
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103124075C>G	uc001pho.2	+	66	10248	c.10104C>G	c.(10102-10104)CTC>CTG	p.L3368L	DYNC2H1_uc001phn.1_Silent_p.L3375L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373		NaN											0	0	0	0.050027	0	34	52				
DDI1	414301	broad.mit.edu	37	11	103908520	103908520	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103908520C>A	uc001phr.2	+	1	1213	c.970C>A	c.(970-972)CAA>AAA	p.Q324K	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	324					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTTGAGGATCAACCCATGGA	0.448		NaN											1	0	1.06522e-23	0.045515	1.18053e-23	46	83				
NCAM1	4684	broad.mit.edu	37	11	113145992	113145992	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:113145992G>A	uc001pns.2	+	6	748	c.716G>A	c.(715-717)AGG>AAG	p.R239K	uc010rwu.1_5'Flank|NCAM1_uc001pnt.2_Silent_p.K55K			P13591	NCAM1_HUMAN	SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;	Error:Variant_position_missing_in_P13591_after_alignment					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCAGGAAGGGCCCCGTAG	0.592		NaN											0	0	0	0.038395	0	18	23				
MLL	4297	broad.mit.edu	37	11	118348798	118348798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:118348798C>T	uc001pta.2	+	5	3474	c.3451C>T	c.(3451-3453)CGA>TGA	p.R1151*	MLL_uc001ptb.2_Nonsense_Mutation_p.R1151*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1151	CXXC-type.			R->A: Impairs DNA-binding.	apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAAAGGACGTCGATCGAGGCG	0.512		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.021523	0	23	249		Valid		
PANX3	116337	broad.mit.edu	37	11	124489476	124489476	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:124489476C>T	uc001qah.2	+	4	824	c.824C>T	c.(823-825)TCC>TTC	p.S275F		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	275	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTTAGCCTCTCCAGTGTAGCA	0.458		NaN											0	0	0	0.062417	0	22	47				
TULP3	7289	broad.mit.edu	37	12	3040245	3040245	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:3040245G>C	uc010seh.1	+	6	616	c.535G>C	c.(535-537)GAT>CAT	p.D179H	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D179H|TULP3_uc010sei.1_Missense_Mutation_p.D36H	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	179				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCAACCAGCTGATAACCTCCT	0.507		NaN											0	0	0	0.048971	0	48	80				
KCNA5	3741	broad.mit.edu	37	12	5154246	5154246	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:5154246G>A	uc001qni.2	+	1	1162	c.933G>A	c.(931-933)ACG>ACA	p.T311T		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	311						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CTGGCCCTACGGTGGCACCGC	0.711		NaN											0	0	0	0.048971	0	53	91				
LTBR	4055	broad.mit.edu	37	12	6499851	6499851	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:6499851C>T	uc001qny.1	+	10	1224	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G	LTBR_uc010sfc.1_Silent_p.G333G|LTBR_uc001qnz.1_Silent_p.G347G	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	352	Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			lung(2)	2						ATGTCACCGGCGGGTCTATGA	0.562		NaN											0	0	0	0.048971	0	96	98				
AICDA	57379	broad.mit.edu	37	12	8758001	8758001	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:8758001G>A	uc001qur.2	-	3	316	c.237C>T	c.(235-237)ACC>ACT	p.T79T	AICDA_uc001qup.1_Silent_p.T74T|AICDA_uc001quq.1_Silent_p.T74T|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	79					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					AGGTGAACCAGGTGACGCGGT	0.627		NaN							Immune_Deficiency_with_Hyper-IgM				0	0	0	0.01892	0	25	66				
C12orf36	283422	broad.mit.edu	37	12	13526293	13526293	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:13526293G>A	uc001rbs.1	-	3	480	c.262C>T	c.(262-264)CCT>TCT	p.P88S		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)		CCCAGGGGAGGAGCTCGTGCA	0.463		NaN											0	0	0	0.048971	0	63	81				
SLCO1C1	53919	broad.mit.edu	37	12	20874968	20874968	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:20874968A>T	uc001rej.3	+	9	1361	c.1006A>T	c.(1006-1008)ATG>TTG	p.M336L	SLCO1C1_uc010sii.1_Missense_Mutation_p.M336L|SLCO1C1_uc010sij.1_Missense_Mutation_p.M287L|SLCO1C1_uc009zip.2_Missense_Mutation_p.M170L|SLCO1C1_uc001rei.2_Missense_Mutation_p.M336L|SLCO1C1_uc010sik.1_Missense_Mutation_p.M218L	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	336	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TGCAAAAATAATGGAAATGGC	0.264		NaN											0	0	0	0.024245	0	14	27				
KRT75	9119	broad.mit.edu	37	12	52827910	52827910	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52827910C>T	uc001saj.2	-	1	201	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	60	Gly-rich.|Head.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTAGAGGCTGCGGCTTCCAAA	0.652		NaN											0	0	0	0.058154	0	10	114				
KRT6C	286887	broad.mit.edu	37	12	52862934	52862934	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52862934C>T	uc001sal.3	-	9	1655	c.1607G>A	c.(1606-1608)GGG>GAG	p.G536E		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	536	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGGCCACCCCCAATGGCTCT	0.592		NaN											0	0	0	0.030593	0	25	72				
SPIC	121599	broad.mit.edu	37	12	101880371	101880371	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:101880371C>T	uc001tid.2	+	6	728	c.569C>T	c.(568-570)ACT>ATT	p.T190I	SPIC_uc009zua.2_Missense_Mutation_p.T65I|SPIC_uc010svp.1_Missense_Mutation_p.T189I	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	190	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AGGAAGCTGACTTACCAGTTC	0.443		NaN											0	0	0	0.016723	0	12	116				
STAB2	55576	broad.mit.edu	37	12	104067714	104067714	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104067714A>G	uc001tjw.2	+	23	2587	c.2401A>G	c.(2401-2403)AAC>GAC	p.N801D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	801	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AACATGCAATAACAGGATAGA	0.592		NaN											0	0	0	0.045515	0	47	50				
STAB2	55576	broad.mit.edu	37	12	104092983	104092983	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104092983G>A	uc001tjw.2	+	34	3878	c.3692G>A	c.(3691-3693)AGC>AAC	p.S1231N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1231	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TATTTCCTTAGCTTCTTTCTC	0.473		NaN											0	0	0	0.0333	0	16	26				
MLXIP	22877	broad.mit.edu	37	12	122626341	122626341	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:122626341G>A	uc001ubq.2	+	17	2742	c.2742G>A	c.(2740-2742)AAG>AAA	p.K914K	MLXIP_uc001ubt.2_Silent_p.K521K	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGATTGGCAAGAGATTGGGAG	0.622		NaN											0	0	0	0.036044	0	40	73				
TMEM132B	114795	broad.mit.edu	37	12	126138270	126138270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:126138270G>T	uc001uhe.1	+	9	2259	c.2251G>T	c.(2251-2253)GAG>TAG	p.E751*	TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E263*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	751	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTGGTTGCAGAGGGTGAAGG	0.433		NaN											1	0	1.30916e-28	0.048971	1.48142e-28	50	89				
PCDH20	64881	broad.mit.edu	37	13	61987073	61987073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:61987073C>A	uc001vid.3	-	2	1523	c.1159G>T	c.(1159-1161)GGA>TGA	p.G387*	PCDH20_uc010thj.1_Nonsense_Mutation_p.G387*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	360	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACTTCCTCCAATCTTACTG	0.398		NaN											1	0	1.61742e-36	0.048971	1.86959e-36	58	96				
KLF5	688	broad.mit.edu	37	13	73636642	73636642	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:73636642C>A	uc001vje.2	+	2	1229	c.905C>A	c.(904-906)CCG>CAG	p.P302Q	KLF5_uc001vjd.2_Missense_Mutation_p.P211Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	302					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TACTTTCCCCCGTCACCACCA	0.502		NaN											1	0	2.89935e-36	0.048971	3.33348e-36	67	63		Valid		
OR4N2	390429	broad.mit.edu	37	14	20296395	20296395	+	Missense_Mutation	SNP	G	G	T	rs148867085		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:20296395G>T	uc010tkv.1	+	1	788	c.788G>T	c.(787-789)AGG>ATG	p.R263M		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCCCCTTCAGGGCTTTCCCA	0.458		NaN											1	0	4.6707e-30	0.048971	5.31323e-30	52	73				
PRKD1	5587	broad.mit.edu	37	14	30100021	30100021	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:30100021C>T	uc001wqh.2	-	10	1780	c.1599G>A	c.(1597-1599)GAG>GAA	p.E533E		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522		NaN											0	0	0	0.047766	0	9	135				
FANCM	57697	broad.mit.edu	37	14	45605269	45605269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:45605269G>A	uc001wwd.3	+	1	134	c.35G>A	c.(34-36)TGG>TAG	p.W12*	FANCM_uc001wwc.2_Nonsense_Mutation_p.W12*|FANCM_uc010anf.2_Nonsense_Mutation_p.W12*|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	12					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TTTCAGACGTGGGGCTCAAGT	0.587		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.042209	0	47	81				
C14orf104	55172	broad.mit.edu	37	14	50100212	50100212	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:50100212C>A	uc001wws.3	-	1	1737	c.1656G>T	c.(1654-1656)TTG>TTT	p.L552F	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.L552F	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	552					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGAGGGGATTCAAATCTCCTT	0.443		NaN							Kartagener_syndrome				1	0	3.32936e-07	0.038395	3.45803e-07	17	48				
NID2	22795	broad.mit.edu	37	14	52474664	52474664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:52474664C>T	uc001wzo.2	-	19	3978	c.3744G>A	c.(3742-3744)TGG>TGA	p.W1248*	NID2_uc010tqs.1_Nonsense_Mutation_p.W1200*|NID2_uc010tqt.1_Nonsense_Mutation_p.W1248*	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1248	LDL-receptor class B 3.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTCTATTCCAGTCTGTCC	0.239		NaN											0	0	0	0.014758	0	5	54				
SLC35F4	341880	broad.mit.edu	37	14	58038711	58038711	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:58038711G>A	uc001xdb.1	-	5	942	c.942C>T	c.(940-942)ACC>ACT	p.T314T	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.T155T	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TGACAATGCCGGTAATTGCCA	0.433		NaN											0	0	0	0.008291	0	9	12				
SLC10A1	6554	broad.mit.edu	37	14	70252943	70252943	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:70252943A>G	uc001xlr.2	-	2	572	c.438T>C	c.(436-438)TAT>TAC	p.Y146Y		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	146					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GGTCCCCATCATAGATCCCCC	0.522		NaN											0	0	0	0.048971	0	56	72				
KIAA1409	57578	broad.mit.edu	37	14	94088092	94088092	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:94088092G>A	uc001ybv.1	+	28	4131	c.4048G>A	c.(4048-4050)GGG>AGG	p.G1350R	KIAA1409_uc001ybs.1_Missense_Mutation_p.G1328R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1505						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCTTGATATAGGGAATGCAGA	0.438		NaN											0	0	0	0.059317	0	33	64				
ZNF839	55778	broad.mit.edu	37	14	102808061	102808061	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:102808061G>A	uc001ylo.2	+	8	2331	c.1981G>A	c.(1981-1983)GAC>AAC	p.D661N	ZNF839_uc010awk.1_Missense_Mutation_p.D777N|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Missense_Mutation_p.D586N|ZNF839_uc001yls.2_Missense_Mutation_p.D278N|ZNF839_uc001ylt.2_Missense_Mutation_p.D251N	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	661						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAAGGTTTGTGACTTCCACCT	0.622		NaN											0	0	0	0.047766	0	9	120				
DUOX2	50506	broad.mit.edu	37	15	45403752	45403752	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:45403752C>T	uc010bea.2	-	6	748	c.545G>A	c.(544-546)AGC>AAC	p.S182N	DUOX2_uc001zun.2_Missense_Mutation_p.S182N|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	182	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATAGATGGCGCTGCCGTCCAG	0.766		NaN											0	0	0	0.009096	0	4	9				
DAPK2	23604	broad.mit.edu	37	15	64275760	64275760	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:64275760G>T	uc002amr.2	-	3	317	c.286C>A	c.(286-288)CGC>AGC	p.R96S	DAPK2_uc010uim.1_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.R86S	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	96	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		ACGTCGGTGCGGTTCTCATAG	0.652		NaN											1	0	1.52319e-26	0.033182	1.69681e-26	37	66				
CELF6	60677	broad.mit.edu	37	15	72608188	72608188	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:72608188C>T	uc002auh.2	-	2	653	c.343G>A	c.(343-345)GGG>AGG	p.G115R	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.G115R|CELF6_uc002aui.2_Missense_Mutation_p.R237K|CELF6_uc002auj.2_5'UTR	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	115	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						GGACTTACCCCTGGCAGGGTC	0.642		NaN											0	0	0	0.004672	0	3	9				
OR4F6	390648	broad.mit.edu	37	15	102346616	102346616	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:102346616G>C	uc010utr.1	+	1	694	c.694G>C	c.(694-696)GGT>CGT	p.G232R		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATCTTCAGGTGGTATATTCAA	0.353		NaN											0	0	0	0.048971	0	54	115				
MSLN	10232	broad.mit.edu	37	16	813678	813678	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:813678C>G	uc002cjw.1	+	4	217	c.166C>G	c.(166-168)CCT>GCT	p.P56A	MSLN_uc002cjt.1_Missense_Mutation_p.P56A|MSLN_uc002cju.1_Missense_Mutation_p.P56A|MSLN_uc010brd.1_Missense_Mutation_p.P55A|MSLN_uc002cjv.1_Missense_Mutation_p.P56A|MSLN_uc002cjx.1_Missense_Mutation_p.P56A|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	56				ANPP -> TTPH (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GGCCAACCCACCTAACATTTC	0.662		NaN											0	0	0	0.020292	0	14	12				
RNPS1	10921	broad.mit.edu	37	16	2305696	2305696	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:2305696G>A	uc002cpt.2	-	7	1254	c.708C>T	c.(706-708)ACC>ACT	p.T236T	RNPS1_uc002cpu.2_Silent_p.T236T|RNPS1_uc002cpv.2_Silent_p.T59T|RNPS1_uc002cpw.2_Silent_p.T236T|RNPS1_uc002cpx.2_Silent_p.T213T|RNPS1_uc010uwa.1_RNA	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	RNA-binding protein S1, serine-rich domain	236	Necessary for interaction with PNN and exon-skipping.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(1)	1						CCAGCACGGCGGTGGCAGTGA	0.562		NaN											0	0	0	0.043863	0	20	36				
SMG1	23049	broad.mit.edu	37	16	18849753	18849753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:18849753G>A	uc002dfm.2	-	44	7483	c.7120C>T	c.(7120-7122)CGA>TGA	p.R2374*	SMG1_uc010bwb.2_Nonsense_Mutation_p.R2234*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R1105*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2374	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGTGTCATTCGAAAAGGTACT	0.373		NaN											0	0	0	0.02938	0	7	76				
NFATC2IP	84901	broad.mit.edu	37	16	28965901	28965901	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:28965901A>T	uc002dru.2	+	3	491	c.476A>T	c.(475-477)GAT>GTT	p.D159V	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	159						cytoplasm|nucleus				ovary(1)	1						GAGCTGGCAGATTCGAGTGGT	0.522		NaN											0	0	0	0.048971	0	89	149				
IRX3	79191	broad.mit.edu	37	16	54319028	54319028	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:54319028A>G	uc002eht.1	-	2	1181	c.765T>C	c.(763-765)GAT>GAC	p.D255D		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	255	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTTCTCCAAATCGATctcct	0.403		NaN											0	0	0	0.0333	0	18	23				
MMP2	4313	broad.mit.edu	37	16	55525777	55525777	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:55525777A>G	uc002ehz.3	+	8	1556	c.1245A>G	c.(1243-1245)CAA>CAG	p.Q415Q	MMP2_uc010vhd.1_Silent_p.Q339Q|MMP2_uc010ccc.2_Silent_p.Q365Q|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	415	Required for inhibitor TIMP2 binding.|Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCACTCCCAAGACCCTGGGG	0.577		NaN											0	0	0	0.025465	0	41	75				
KARS	3735	broad.mit.edu	37	16	75665679	75665679	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:75665679C>T	uc002feq.2	-	8	1038	c.990G>A	c.(988-990)ACG>ACA	p.T330T	KARS_uc002fer.2_Silent_p.T358T|KARS_uc002fes.2_Silent_p.T174T	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	330					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	CAGGATTGTGCGTCAAATCAA	0.493		NaN											0	0	0	0.048971	0	87	135				
OR1A2	26189	broad.mit.edu	37	17	3101305	3101305	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:3101305A>G	uc002fvd.1	+	1	493	c.493A>G	c.(493-495)AGT>GGT	p.S165G		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GCTCACAGCTAGTTTGTCCTT	0.458		NaN											0	0	0	0.048971	0	49	73				
GPR179	440435	broad.mit.edu	37	17	36486976	36486976	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:36486976C>G	uc002hpz.2	-	11	2497	c.2476G>C	c.(2476-2478)GGA>CGA	p.G826R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	826	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCCTCTCTCCCACCGTCAGG	0.667		NaN											0	0	0	0.008291	0	10	17				
C17orf65	339201	broad.mit.edu	37	17	42254079	42254079	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:42254079C>T	uc002ifn.2	-	4	1518	c.542G>A	c.(541-543)AGG>AAG	p.R181K	ASB16_uc002ifl.1_Intron|ASB16_uc002ifm.1_Intron	NM_178542	NP_848637	Q495Z4	CQ065_HUMAN	hypothetical protein LOC339201	181											0		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGGATTTTCCTCAGGACCTT	0.597		NaN											0	0	0	0.048971	0	71	142				
MYST2	11143	broad.mit.edu	37	17	47874209	47874209	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:47874209G>A	uc002ipm.2	+	3	387	c.261G>A	c.(259-261)GTG>GTA	p.V87V	MYST2_uc002ipl.1_Silent_p.V87V|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Silent_p.V87V|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	87					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CTACCCCAGTGACACCGAAAA	0.488		NaN											0	0	0	0.030593	0	23	263				
AKAP1	8165	broad.mit.edu	37	17	55183204	55183204	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:55183204G>A	uc002iux.2	+	2	610	c.379G>A	c.(379-381)GAC>AAC	p.D127N	AKAP1_uc010wnl.1_Missense_Mutation_p.D127N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.D127N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	127					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					ACGCAGAGATGACAGTACAAA	0.522		NaN											0	0	0	0.045705	0	32	47				
C17orf47	284083	broad.mit.edu	37	17	56619289	56619289	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:56619289G>A	uc002iwq.1	-	2	1736	c.1600C>T	c.(1600-1602)CTA>TTA	p.L534L	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	534										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACCTTTTAGCCACCAGATG	0.507		NaN											0	0	0	0.023175	0	41	74				
SLC16A5	9121	broad.mit.edu	37	17	73100105	73100105	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:73100105C>T	uc002jmr.2	+	6	1566	c.1194C>T	c.(1192-1194)TTC>TTT	p.F398F	SLC16A5_uc002jms.1_Silent_p.F398F|SLC16A5_uc002jmt.2_Silent_p.F398F|SLC16A5_uc002jmu.2_Silent_p.F398F|SLC16A5_uc010wrt.1_Silent_p.F438F	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	398	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCTATGTTTTCTACATGTCCA	0.493		NaN											0	0	0	0.024245	0	13	117				
ONECUT2	9480	broad.mit.edu	37	18	55103602	55103602	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:55103602C>A	uc002lgo.2	+	1	686	c.654C>A	c.(652-654)CCC>CCA	p.P218P		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	218					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGGAGATGCCCGGCATGAGCC	0.687		NaN											1	0	0.00741294	0.043863	0.00751784	20	29				
SBNO2	22904	broad.mit.edu	37	19	1110743	1110743	+	Splice_Site	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:1110743C>A	uc002lrk.3	-	26	3266	c.3028_splice	c.e26+1	p.D1010_splice	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Splice_Site_p.D953_splice|SBNO2_uc010dse.2_Splice_Site_p.D993_splice|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1						macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGCTCACCCAGGATGCC	0.637		NaN											1	0	1.11015e-26	0.048971	1.24314e-26	52	85				
ATCAY	85300	broad.mit.edu	37	19	3905458	3905458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:3905458G>T	uc002lyy.3	+	4	593	c.163G>T	c.(163-165)GGA>TGA	p.G55*	ATCAY_uc010xhz.1_Nonsense_Mutation_p.G61*	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	55					transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AAATTTCAACGGAGCGCATCG	0.498		NaN											1	0	4.35082e-09	0.055883	4.56305e-09	22	23				
COL5A3	50509	broad.mit.edu	37	19	10089574	10089574	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10089574C>T	uc002mmq.1	-	40	3043	c.2957G>A	c.(2956-2958)GGG>GAG	p.G986E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	986	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CACCGGGTCCCCAGGGCCCCC	0.622		NaN											0	0	0	0.010729	0	11	16				
ATG4D	84971	broad.mit.edu	37	19	10663675	10663675	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10663675C>T	uc002mov.2	+	10	1477	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	ATG4D_uc010xlh.1_Missense_Mutation_p.R390W|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.R120W	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	453					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCCCACACTCCGGCTCCCTCG	0.617		NaN											0	0	0	0.058154	0	10	83				
LPHN1	22859	broad.mit.edu	37	19	14273534	14273534	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:14273534G>C	uc010xnn.1	-	6	1390	c.1094C>G	c.(1093-1095)CCC>CGC	p.P365R	LPHN1_uc010xno.1_Missense_Mutation_p.P360R|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	365	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GAACTGGTAGGGGTTGGGGAA	0.587		NaN											0	0	0	0.008291	0	11	147				
CYP4F2	8529	broad.mit.edu	37	19	15990419	15990419	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:15990419G>A	uc002nbs.1	-	11	1359	c.1309C>T	c.(1309-1311)CCT>TCT	p.P437S	CYP4F2_uc010xot.1_Missense_Mutation_p.P288S	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	437					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						CGCACCTCAGGGTCCGGCCAC	0.557		NaN											0	0	0	0.048971	0	72	153				
CYP4F11	57834	broad.mit.edu	37	19	16035572	16035572	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:16035572C>T	uc002nbu.2	-	6	682	c.646G>A	c.(646-648)GAG>AAG	p.E216K	CYP4F11_uc010eab.1_Missense_Mutation_p.E216K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E216K	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	216					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGGACTCACTCCTGACAATTG	0.517		NaN											0	0	0	0.047766	0	8	97				
MLL4	9757	broad.mit.edu	37	19	36216719	36216719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:36216719G>A	uc010eei.2	+	14	3885	c.3885G>A	c.(3883-3885)TGG>TGA	p.W1295*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1295	PHD-type 2.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCGCCACTGGGTGAGAGATG	0.612		NaN											0	0	0	0.021553	0	6	0				
LILRB2	10288	broad.mit.edu	37	19	54782928	54782929	+	Missense_Mutation	DNP	CC	CC	TT	rs141840014		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:54782928_54782929CC>TT	uc002qfb.2	-	6	959_960	c.693_694GG>AA	c.(691-696)CCGGGT>CCAAGT	p.G232S	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G232S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G232S|LILRB2_uc010yet.1_Missense_Mutation_p.G116S|LILRB2_uc010yeu.1_Intron	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	232	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGACAGGACCCGGCTGCACTG	0.574		NaN											0	0	0	0.004672	0	7	133				
BRSK1	84446	broad.mit.edu	37	19	55816212	55816212	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:55816212C>A	uc002qkg.2	+	14	1918	c.1641C>A	c.(1639-1641)GCC>GCA	p.A547A	BRSK1_uc002qkf.2_Silent_p.A563A|BRSK1_uc002qkh.2_Silent_p.A242A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	547					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGGGGGAGCCGCCTGGAGGA	0.701		NaN											1	0	1.836e-18	0.064281	1.98362e-18	37	4				
PQLC3	130814	broad.mit.edu	37	2	11300786	11300786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:11300786G>A	uc002rbc.2	+	3	395	c.262G>A	c.(262-264)GGG>AGG	p.G88R	PQLC3_uc010yjk.1_Missense_Mutation_p.G88R	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	88						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATTTTAACGGGAACGTGAA	0.517		NaN											0	0	0	0.023175	0	39	73				
C2orf86	51057	broad.mit.edu	37	2	63380641	63380641	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:63380641C>T	uc002sch.2	-	16	2593	c.2147G>A	c.(2146-2148)TGT>TAT	p.C716Y	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.C557Y|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.C524Y	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	716					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						TTCTGCATTACAGGTATTAGT	0.299		NaN											0	0	0	0.055883	0	22	25				
MPHOSPH10	10199	broad.mit.edu	37	2	71357850	71357850	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:71357850G>T	uc002sht.1	+	1	407	c.55G>T	c.(55-57)GGC>TGC	p.G19C	MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.G19C	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	19					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						GACGGAAGTCGGCAAAGCCAC	0.672		NaN											1	0	2.21704e-12	0.016522	2.35972e-12	20	20				
NCAPH	23397	broad.mit.edu	37	2	97035169	97035169	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:97035169C>T	uc002svz.1	+	17	2181	c.2097C>T	c.(2095-2097)CCC>CCT	p.P699P	NCAPH_uc010yum.1_Silent_p.P675P|NCAPH_uc010fhw.1_Silent_p.P688P|NCAPH_uc010yun.1_Silent_p.P563P|NCAPH_uc002swa.1_Silent_p.P294P	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	699					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CCAGCCTGCCCCCTGTCATGG	0.428		NaN											0	0	0	0.033182	0	39	76				
ZC3H6	376940	broad.mit.edu	37	2	113074110	113074110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:113074110G>A	uc002thq.1	+	6	1205	c.811G>A	c.(811-813)GAA>AAA	p.E271K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	271							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						GCACACAGTGGAACACAAAGG	0.318		NaN											0	0	0	0.016723	0	13	16				
POTEE	445582	broad.mit.edu	37	2	132021608	132021608	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:132021608C>T	uc002tsn.2	+	15	2632	c.2580C>T	c.(2578-2580)ACC>ACT	p.T860T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T460T|POTEE_uc002tsl.2_Silent_p.T442T|POTEE_uc010fmy.1_Silent_p.T324T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	860	Actin-like.						ATP binding				0						ACGGGGTCACCCACACTGTGC	0.617		NaN											0	0	0	0.048971	0	61	121				
SPHKAP	80309	broad.mit.edu	37	2	228860382	228860382	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:228860382C>T	uc002vpq.2	-	8	4524	c.4477G>A	c.(4477-4479)GAG>AAG	p.E1493K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1493K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1493						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTCAGCCTCTGGTACATCT	0.557		NaN											0	0	0	0.014323	0	23	45				
COL6A3	1293	broad.mit.edu	37	2	238287358	238287358	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:238287358T>C	uc002vwl.2	-	6	2703	c.2418A>G	c.(2416-2418)CCA>CCG	p.P806P	COL6A3_uc002vwo.2_Silent_p.P600P|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.P600P|COL6A3_uc002vwr.2_Silent_p.P399P|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	806	VWFA 4.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGCAAAGCTGGCAGGGAGC	0.527		NaN											0	0	0	0.021022	0	39	65				
SSTR4	6754	broad.mit.edu	37	20	23016850	23016850	+	Missense_Mutation	SNP	C	C	T	rs4988474	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23016850C>T	uc002wsr.2	+	1	794	c.730C>T	c.(730-732)CGC>TGC	p.R244C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	244	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGGCCCTGCGCGCTGGCTG	0.622		NaN											0	0	0	0.038147	0	8	157				
CST9	128822	broad.mit.edu	37	20	23586272	23586272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23586272C>T	uc002wtl.2	-	1	339	c.230G>A	c.(229-231)TGG>TAG	p.W77*		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	77						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)					ATCCTCCCTCCATGAACTCAG	0.532		NaN											0	0	0	0.048971	0	86	127				
PHF20	51230	broad.mit.edu	37	20	34501269	34501269	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:34501269G>A	uc002xek.1	+	11	1771	c.1660G>A	c.(1660-1662)GAA>AAA	p.E554K	PHF20_uc002xei.1_3'UTR|PHF20_uc010gfo.1_3'UTR|PHF20_uc002xej.1_3'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					aaCCAAACCTGGTAATTTTTT	0.284		NaN											0	0	0	0.010729	0	11	25				
TIAM1	7074	broad.mit.edu	37	21	32575281	32575281	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:32575281T>C	uc002yow.1	-	13	2908	c.2436A>G	c.(2434-2436)CTA>CTG	p.L812L	TIAM1_uc011adk.1_Silent_p.L812L|TIAM1_uc011adl.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	812	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGTTTTCTATTAGAAATTTCA	0.388		NaN											0	0	0	0.048971	0	81	88				
KRTAP10-11	386678	broad.mit.edu	37	21	46066461	46066461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:46066461C>T	uc002zfr.3	+	1	131	c.86C>T	c.(85-87)CCC>CTC	p.P29L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	29	25 X 5 AA repeats of C-C-X(3).|1.					keratin filament				ovary(1)	1						TGCTGTGAGCCCCCCTGCAGC	0.706		NaN											0	0	0	0.048971	0	55	71				
AIFM3	150209	broad.mit.edu	37	22	21335037	21335037	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:21335037C>G	uc002ztj.2	+	20	1977	c.1759C>G	c.(1759-1761)CTG>GTG	p.L587V	AIFM3_uc002ztk.2_Intron|AIFM3_uc002ztl.2_Intron|AIFM3_uc011ahx.1_Intron|AIFM3_uc002ztm.1_Intron|LZTR1_uc002ztn.2_Intron|LZTR1_uc002zto.2_5'Flank|LZTR1_uc011ahy.1_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	587					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTCGTGAAGGCTGTTTGTGCT	0.522		NaN											0	0	0	0.016522	0	21	220				
AP1B1	162	broad.mit.edu	37	22	29750657	29750657	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:29750657T>C	uc003afj.2	-	7	1104	c.920A>G	c.(919-921)AAT>AGT	p.N307S	AP1B1_uc003afi.2_Missense_Mutation_p.N307S|AP1B1_uc003afk.2_Missense_Mutation_p.N307S|AP1B1_uc003afl.2_Missense_Mutation_p.N307S	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	307					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CACGATGAGATTGATGTTGCG	0.582		NaN											0	0	0	0.008291	0	10	94				
CHKB	1120	broad.mit.edu	37	22	51020239	51020239	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:51020239C>T	uc003bms.2	-	3	604	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.R8Q|CHKB_uc003bmv.2_Missense_Mutation_p.R129Q|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	129					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CCCCAGCGACCGCTCCGCAAG	0.617		NaN											0	0	0	0.048971	0	49	92				
SCN11A	11280	broad.mit.edu	37	3	38888718	38888718	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38888718C>T	uc011ays.1	-	26	5042	c.4843G>A	c.(4843-4845)GAG>AAG	p.E1615K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1615					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGGGTCCTCACTTTCTTCA	0.368		NaN											0	0	0	0.013537	0	13	144				
SCN11A	11280	broad.mit.edu	37	3	38926797	38926797	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38926797C>G	uc011ays.1	-	17	3245	c.3046G>C	c.(3046-3048)GAG>CAG	p.E1016Q	SCN11A_uc010hhn.1_Missense_Mutation_p.E94Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1016					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAACATCTCTCTGGTTGCTTT	0.428		NaN											0	0	0	0.047766	0	8	80				
IQCF1	132141	broad.mit.edu	37	3	51929352	51929352	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:51929352G>T	uc003dbv.2	-	4	270	c.172C>A	c.(172-174)CCC>ACC	p.P58T	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	58										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCTGGGGGCTTTCAAGAA	0.562		NaN											1	0	1.2476e-16	0.030593	1.34117e-16	30	42				
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:52857966C>A	uc003dfz.2	-	10	1262	c.1226G>T	c.(1225-1227)CGG>CTG	p.R409L	ITIH4_uc011bel.1_Missense_Mutation_p.R139L|ITIH4_uc003dfy.2_Missense_Mutation_p.R273L|ITIH4_uc011bem.1_Missense_Mutation_p.R409L|ITIH4_uc011ben.1_Missense_Mutation_p.R409L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	409	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582		NaN											1	0	6.90743e-12	0.064281	7.31575e-12	34	75				
DNASE1L3	1776	broad.mit.edu	37	3	58186750	58186750	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:58186750C>T	uc003djo.1	-	5	617	c.520G>A	c.(520-522)GAC>AAC	p.D174N	DNASE1L3_uc011bfd.1_Missense_Mutation_p.D144N|DNASE1L3_uc003djp.1_Missense_Mutation_p.D174N|DNASE1L3_uc003djq.1_Missense_Mutation_p.D174N	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	174					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGTTTCACGTCCGTGTAGACC	0.547		NaN											0	0	0	0.048971	0	100	175				
FAM19A4	151647	broad.mit.edu	37	3	68802170	68802170	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:68802170C>T	uc003dnh.1	-	4	574	c.131_splice	c.e4-1	p.G44_splice	FAM19A4_uc003dni.1_Splice_Site_p.G44_splice	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine							extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TGGTGGTGACCTAGTTGGTAA	0.478		NaN											0	0	0	0.028581	0	16	29				
LMOD3	56203	broad.mit.edu	37	3	69168084	69168084	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:69168084C>T	uc003dns.2	-	2	1631	c.1422G>A	c.(1420-1422)CAG>CAA	p.Q474Q	LMOD3_uc003dnt.2_Silent_p.Q474Q	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	474						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACTTCGGGGCCTGCGATGGCT	0.562		NaN											0	0	0	0.009096	0	4	68				
ZDHHC23	254887	broad.mit.edu	37	3	113667649	113667649	+	Translation_Start_Site	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:113667649C>G	uc003eau.2	+	2	299	c.0C>G	c.(-2-2)ATCAT>ATGAT		ZDHHC23_uc003eav.2_Intron	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23							integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						AGGTGCAAATCATGACACAGA	0.483		NaN											0	0	0	0.030466	0	40	31				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:195505836G>C	uc011bto.1	-	3	12691	c.12231C>G	c.(12229-12231)CAC>CAG	p.H4077Q	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597		NaN											0	0	0	0.014758	0	5	4				
FGFR3	2261	broad.mit.edu	37	4	1806088	1806089	+	Missense_Mutation	DNP	GG	GG	TT	rs121913479		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			GG	TT	GG	GG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:1806088_1806089GG>TT	uc003gdr.3	+	9	1363_1364	c.1107_1108GG>TT	c.(1105-1110)GCGGGC>GCTTGC	p.G370C	FGFR3_uc003gdu.2_Missense_Mutation_p.G372C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G370C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	370	Extracellular (Potential).		G -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G370C(125)|p.A369A(6)|p.A369_G370>VC(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGACGAGGCGGGCAGTGTGTA	0.688		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.004672	0	101	150		Valid		
MXD4	10608	broad.mit.edu	37	4	2252898	2252898	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:2252898G>A	uc003geu.1	-	5	417	c.385C>T	c.(385-387)CGC>TGC	p.R129C		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	129					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						TGCTCCAGGCGCCGCTTCAGG	0.662		NaN											0	0	0	0.038147	0	8	10				
ATP8A1	10396	broad.mit.edu	37	4	42545975	42545975	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:42545975G>A	uc003gwr.2	-	20	1913	c.1681C>T	c.(1681-1683)CGC>TGC	p.R561C	ATP8A1_uc003gws.2_Missense_Mutation_p.R546C|ATP8A1_uc011byz.1_Missense_Mutation_p.R546C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	561	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	GATGGAGTGCGAACAATCACT	0.338		NaN											0	0	0	0.043863	0	16	31				
LRRC66	339977	broad.mit.edu	37	4	52862253	52862253	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:52862253C>T	uc003gzi.2	-	4	948	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	312						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTTTTCATGCGATGCAGATG	0.562		NaN											0	0	0	0.041601	0	28	36				
TECRL	253017	broad.mit.edu	37	4	65170940	65170940	+	Missense_Mutation	SNP	C	C	A	rs141462797		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:65170940C>A	uc003hcv.2	-	7	783	c.674G>T	c.(673-675)TGG>TTG	p.W225L	TECRL_uc003hcw.2_Missense_Mutation_p.W225L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	225	Helical; (Potential).				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						AGTAAATCCCCAGTAAAAGGC	0.294		NaN											1	0	0.00116845	0.021553	0.0011906	6	115				
EXOSC9	5393	broad.mit.edu	37	4	122723018	122723018	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:122723018A>T	uc003iea.2	+	2	211	c.103A>T	c.(103-105)ATC>TTC	p.I35F	EXOSC9_uc003idz.2_Missense_Mutation_p.I35F|EXOSC9_uc003ieb.2_Missense_Mutation_p.I19F|EXOSC9_uc010inp.1_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	35	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						TTATAGGAACATCAGGATCTC	0.318		NaN											0	0	0	0.059317	0	31	51				
FAT4	79633	broad.mit.edu	37	4	126241857	126241857	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:126241857G>C	uc003ifj.3	+	1	4291	c.4291G>C	c.(4291-4293)GAG>CAG	p.E1431Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1431	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTCTATTGTTGAGAACATTCC	0.423		NaN											0	0	0	0.010729	0	12	154				
ADAM29	11086	broad.mit.edu	37	4	175896928	175896928	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:175896928A>T	uc003iuc.2	+	5	922	c.252A>T	c.(250-252)ACA>ACT	p.T84T	ADAM29_uc003iud.2_Silent_p.T84T|ADAM29_uc010irr.2_Silent_p.T84T|ADAM29_uc011cki.1_Silent_p.T84T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	84					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCACCTACACAGACCAGGGTG	0.478		NaN											0	0	0	0.049695	0	20	38				
MTNR1A	4543	broad.mit.edu	37	4	187455151	187455151	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:187455151T>C	uc003izd.1	-	2	763	c.745A>G	c.(745-747)ATT>GTT	p.I249V		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	249	Helical; Name=6; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCCAGCAAATGGCAAAAAGG	0.527		NaN											0	0	0	0.048971	0	51	109				
DNAH5	1767	broad.mit.edu	37	5	13766144	13766144	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:13766144G>A	uc003jfd.2	-	59	10084	c.10042C>T	c.(10042-10044)CCC>TCC	p.P3348S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3348	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGCCAGGAGGGCATGGTACAG	0.468		NaN							Kartagener_syndrome				0	0	0	0.038147	0	8	147				
NPR3	4883	broad.mit.edu	37	5	32786414	32786414	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:32786414G>A	uc003jhv.2	+	8	1807	c.1589G>A	c.(1588-1590)CGG>CAG	p.R530Q	NPR3_uc011cnz.1_Missense_Mutation_p.R313Q|NPR3_uc003jhu.2_Missense_Mutation_p.R529Q|C5orf23_uc003jhw.1_5'Flank	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	530	Cytoplasmic (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	CGGGAATTACGGGAAGATTCC	0.418		NaN											0	0	0	0.038147	0	7	13				
ADAMTS12	81792	broad.mit.edu	37	5	33576479	33576479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576479C>G	uc003jia.1	-	19	3815	c.3652G>C	c.(3652-3654)GAA>CAA	p.E1218Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1133Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1218	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCAGTCCTTCCATTACTGTG	0.542		NaN								HNSCC(64;0.19)			0	0	0	0.047766	0	9	145				
ADAMTS12	81792	broad.mit.edu	37	5	33576554	33576554	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576554C>G	uc003jia.1	-	19	3740	c.3577G>C	c.(3577-3579)GAA>CAA	p.E1193Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1108Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1193	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGTGGCATTTCTGTACTTTCC	0.512		NaN								HNSCC(64;0.19)			0	0	0	0.043863	0	16	140				
ADAMTS12	81792	broad.mit.edu	37	5	33881544	33881544	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33881544G>T	uc003jia.1	-	2	332	c.169C>A	c.(169-171)CCA>ACA	p.P57T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P57T|ADAMTS12_uc003jib.1_Missense_Mutation_p.P57T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						ACTCGGACTGGACCCACCACG	0.488		NaN								HNSCC(64;0.19)			1	0	6.40141e-05	0.010729	6.55383e-05	12	213				
PARP8	79668	broad.mit.edu	37	5	50074470	50074470	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:50074470A>G	uc003jon.3	+	10	838	c.656A>G	c.(655-657)TAT>TGT	p.Y219C	PARP8_uc011cpz.1_Missense_Mutation_p.Y111C|PARP8_uc003joo.2_Missense_Mutation_p.Y219C|PARP8_uc003jop.2_Missense_Mutation_p.Y219C	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	219						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTACACAGTATTTAAATGGC	0.323		NaN											0	0	0	0.009096	0	4	22				
ANKRD55	79722	broad.mit.edu	37	5	55422846	55422846	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:55422846A>G	uc003jqu.2	-	8	852	c.700T>C	c.(700-702)TGT>CGT	p.C234R		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	233	ANK 7.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATATGTACACATGTCTTCCCA	0.498		NaN											0	0	0	0.048971	0	60	122				
ADAMTS6	11174	broad.mit.edu	37	5	64447760	64447760	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:64447760A>G	uc003jtp.2	-	25	4071	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1086	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACTTTATTCACATCTTTGCA	0.458		NaN											0	0	0	0.030593	0	30	52				
POLK	51426	broad.mit.edu	37	5	74880637	74880637	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:74880637T>C	uc003kdw.2	+	9	1208	c.1112T>C	c.(1111-1113)ATT>ACT	p.I371T	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.I371T|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.I281T|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.I281T|POLK_uc003kee.2_Missense_Mutation_p.I371T|POLK_uc003kef.2_Missense_Mutation_p.I281T	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	371					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTGGAATTATTACATGTACA	0.333		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.062417	0	23	33				
CHD1	1105	broad.mit.edu	37	5	98232075	98232075	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:98232075T>C	uc003knf.2	-	11	1713	c.1565A>G	c.(1564-1566)TAT>TGT	p.Y522C		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	522	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATGAAACAAATAATTCAGAAA	0.363		NaN											0	0	0	0.021553	0	6	75				
MEGF10	84466	broad.mit.edu	37	5	126732390	126732390	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:126732390G>A	uc003kuh.3	+	7	941	c.579G>A	c.(577-579)CAG>CAA	p.Q193Q	MEGF10_uc010jdc.1_Silent_p.Q193Q|MEGF10_uc010jdd.1_Silent_p.Q193Q|MEGF10_uc003kui.3_Silent_p.Q193Q	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	193	Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTGTCATCAGAGATGCCAGT	0.642		NaN											0	0	0	0.048971	0	56	80				
FNIP1	96459	broad.mit.edu	37	5	131006321	131006321	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:131006321T>C	uc003kvs.1	-	15	3085	c.2943A>G	c.(2941-2943)TCA>TCG	p.S981S	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.S953S	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	981					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CGATTAACTTTGACCTGGAAG	0.373		NaN											0	0	0	0.033182	0	43	60				
PCDHA2	56146	broad.mit.edu	37	5	140175218	140175218	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140175218G>A	uc003lhd.2	+	1	775	c.669G>A	c.(667-669)ACG>ACA	p.T223T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.T223T|PCDHA2_uc011czy.1_Silent_p.T223T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	223	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGCTCACGGGCACCGTTC	0.418		NaN											0	0	0	0.048971	0	64	72				
PCDHA8	56140	broad.mit.edu	37	5	140221088	140221088	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140221088C>A	uc003lhs.2	+	1	182	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P61Q	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	61	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.637		NaN											1	0	6.00419e-47	0.048971	6.97784e-47	100	149				
PCDHGA3	56112	broad.mit.edu	37	5	140725934	140725934	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140725934G>A	uc003ljm.1	+	1	2334	c.2334G>A	c.(2332-2334)ACG>ACA	p.T778T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T538T|PCDHGA3_uc011dap.1_Silent_p.T778T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	778	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.522		NaN											0	0	0	0.016723	0	14	207				
PCDHGB2	56103	broad.mit.edu	37	5	140740651	140740651	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140740651C>G	uc003ljs.1	+	1	949	c.949C>G	c.(949-951)CTG>GTG	p.L317V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.L317V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	317	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTTACACTCTGAGTATCGA	0.388		NaN											0	0	0	0.009096	0	4	35				
SPRY4	81848	broad.mit.edu	37	5	141694316	141694316	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:141694316C>A	uc003lml.2	-	2	617	c.358G>T	c.(358-360)GTG>TTG	p.V120L	SPRY4_uc010jgi.1_Missense_Mutation_p.V143L	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	120					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCAGCCACGGGTGGTGGT	0.662		NaN							Testicular_Cancer_Familial_Clustering_of				1	0	2.73381e-35	0.048971	3.12643e-35	57	94				
RBM22	55696	broad.mit.edu	37	5	150075243	150075243	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:150075243C>T	uc003lst.2	-	7	693	c.571G>A	c.(571-573)GAC>AAC	p.D191N		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	191					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGGGGGTCATCTGGATCT	0.413		NaN											0	0	0	0.058154	0	8	52				
SLU7	10569	broad.mit.edu	37	5	159835026	159835026	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:159835026C>A	uc003lyg.2	-	9	1024	c.869G>T	c.(868-870)AGA>ATA	p.R290I		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	290					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCATTGCTCTAGTTTTTGG	0.299		NaN											1	0	1.61863e-15	0.048971	1.73137e-15	45	75				
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:168244341C>T	uc003mab.2	-	8	1177	c.757G>A	c.(757-759)GTG>ATG	p.V253M	SLIT3_uc010jjg.2_Missense_Mutation_p.V253M|SLIT3_uc010jji.2_Missense_Mutation_p.V253M|SLIT3_uc003mac.1_Missense_Mutation_p.V50M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	253	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597		NaN											0	0	0	0.038147	0	8	91				
NEDD9	4739	broad.mit.edu	37	6	11190347	11190347	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:11190347C>T	uc003mzv.2	-	5	1922	c.1755G>A	c.(1753-1755)CAG>CAA	p.Q585Q	NEDD9_uc010joz.2_Silent_p.Q585Q|NEDD9_uc003mzw.3_Silent_p.Q439Q	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	585					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGCTGTCCCTGGGAGCCAC	0.632		NaN											0	0	0	0.045705	0	32	65				
FAM65B	9750	broad.mit.edu	37	6	24850033	24850033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:24850033C>T	uc003neo.1	-	11	1120	c.944G>A	c.(943-945)TGG>TAG	p.W315*	FAM65B_uc011djs.1_Nonsense_Mutation_p.W344*|FAM65B_uc011dju.1_Nonsense_Mutation_p.W349*|FAM65B_uc003nep.2_Nonsense_Mutation_p.W315*|FAM65B_uc011djt.1_Nonsense_Mutation_p.W315*	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	315					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						CACTTACTACCAGGTGATTTC	0.358		NaN											0	0	0	0.024334	0	27	374				
HIST1H1C	3006	broad.mit.edu	37	6	26056507	26056507	+	Silent	SNP	G	G	A	rs150897775		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26056507G>A	uc003nfw.2	-	1	193	c.150C>T	c.(148-150)GCC>GCT	p.A50A		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	50	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						GCTCTTTAGAGGCGGCCACAG	0.567		NaN											0	0	0	0.048971	0	55	89				
ABT1	29777	broad.mit.edu	37	6	26598817	26598817	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26598817G>A	uc003nii.2	+	3	794	c.763G>A	c.(763-765)GGA>AGA	p.G255R		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	255					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CAGGATCTTTGGAGCCCCGCC	0.662		NaN											0	0	0	0.024334	0	26	41				
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:29589570C>T	uc003nmt.3	-	10	1426	c.1090G>A	c.(1090-1092)GGA>AGA	p.G364R	GABBR1_uc003nmp.3_Missense_Mutation_p.G247R|GABBR1_uc003nms.3_Missense_Mutation_p.G247R|GABBR1_uc003nmu.3_Missense_Mutation_p.G302R|GABBR1_uc011dlr.1_Missense_Mutation_p.G187R|GABBR1_uc011dls.1_Missense_Mutation_p.G364R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	364	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G364G(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527		NaN											0	0	0	0.048971	0	43	54				
PSORS1C1	170679	broad.mit.edu	37	6	31107475	31107475	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31107475G>A	uc003nsl.1	+	6	499	c.225G>A	c.(223-225)CAG>CAA	p.Q75Q	PSORS1C1_uc010jsj.1_Silent_p.Q24Q|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	SEEK1 protein	75										ovary(1)	1						CAGCCACCCAGGATGACTGCA	0.547		NaN											0	0	0	0.045705	0	34	33				
DDAH2	23564	broad.mit.edu	37	6	31696843	31696843	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31696843G>A	uc003nwp.2	-	1	727	c.96C>T	c.(94-96)GGC>GGT	p.G32G	DDAH2_uc003nwq.2_Silent_p.G32G	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	32					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	GAGCGGGAAGGCCAGCCCCCG	0.677		NaN											0	0	0	0.048971	0	57	75				
VARS	7407	broad.mit.edu	37	6	31750569	31750569	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31750569G>A	uc003nxe.2	-	15	2239	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	606					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	AGCCCGTGCCGCTGCCCAACT	0.607		NaN											0	0	0	0.014758	0	5	73				
DST	667	broad.mit.edu	37	6	56479254	56479254	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:56479254T>G	uc003pdf.2	-	36	4887	c.4859A>C	c.(4858-4860)CAT>CCT	p.H1620P	DST_uc003pcz.3_Missense_Mutation_p.H1442P|DST_uc011dxj.1_Missense_Mutation_p.H1471P|DST_uc011dxk.1_Missense_Mutation_p.H1482P|DST_uc003pcy.3_Missense_Mutation_p.H1116P|DST_uc003pdb.2_Missense_Mutation_p.H1116P	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.G1620D(1)		ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTTCAACATGTTCTTTCTT	0.368		NaN											0	0	0	0.02938	0	7	15				
KHDRBS2	202559	broad.mit.edu	37	6	62442653	62442653	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:62442653T>C	uc003peg.2	-	7	1074	c.827A>G	c.(826-828)TAC>TGC	p.Y276C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCACCCCCGTAGCCATCATC	0.383		NaN											0	0	0	0.030593	0	26	43				
CD109	135228	broad.mit.edu	37	6	74473393	74473393	+	Silent	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:74473393C>G	uc003php.2	+	10	1517	c.1092C>G	c.(1090-1092)CTC>CTG	p.L364L	CD109_uc010kaz.2_Silent_p.L364L|CD109_uc003phq.2_Silent_p.L364L|CD109_uc010kba.2_Silent_p.L287L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	364						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGCCATCTCTCAACTTCACAG	0.318		NaN											0	0	0	0.049695	0	20	35				
ORC3L	23595	broad.mit.edu	37	6	88376826	88376826	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:88376826A>T	uc003pmh.2	+	20	2165	c.2121A>T	c.(2119-2121)ACA>ACT	p.T707T	ORC3L_uc003pmg.2_Silent_p.T708T|ORC3L_uc003pmi.2_Silent_p.T670T|ORC3L_uc011dzo.1_Silent_p.T564T|ORC3L_uc011dzp.1_Silent_p.T564T|ORC3L_uc003pmj.1_RNA	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	707					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		CAAGACTAACATGGGGAGGCT	0.393		NaN											0	0	0	0.062417	0	21	30				
REV3L	5980	broad.mit.edu	37	6	111636553	111636553	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:111636553C>G	uc003puy.3	-	27	8706	c.8383G>C	c.(8383-8385)GAG>CAG	p.E2795Q	REV3L_uc003pux.3_Missense_Mutation_p.E2717Q|REV3L_uc003puz.3_Missense_Mutation_p.E2717Q|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2795					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGACTGCTCCTTAGTGGCT	0.343		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.016723	0	14	23				
UTRN	7402	broad.mit.edu	37	6	144863938	144863938	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:144863938G>A	uc003qkt.2	+	45	6619	c.6527G>A	c.(6526-6528)AGA>AAA	p.R2176K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2176					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGATTTGCAGAGAGGTGCCT	0.393		NaN											0	0	0	0.016723	0	11	13				
SNX13	23161	broad.mit.edu	37	7	17843094	17843094	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:17843094A>G	uc003stw.1	-	21	2420	c.2207T>C	c.(2206-2208)ATG>ACG	p.M736T	SNX13_uc003stv.2_Missense_Mutation_p.M725T|SNX13_uc010kuc.2_Missense_Mutation_p.M522T|SNX13_uc010kub.2_Missense_Mutation_p.M131T			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	736					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATTTTGCCCATGTTGTCTGA	0.338		NaN											0	0	0	0.020292	0	14	16				
DNAH11	8701	broad.mit.edu	37	7	21721207	21721207	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:21721207T>C	uc003svc.2	+	31	5418	c.5387T>C	c.(5386-5388)CTT>CCT	p.L1796P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1796	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGGGAGAACTTCCACCTGGA	0.388		NaN							Kartagener_syndrome				0	0	0	0.043863	0	19	39				
ZAN	7455	broad.mit.edu	37	7	100365467	100365467	+	Missense_Mutation	SNP	G	G	A	rs74848966	by1000genomes	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:100365467G>A	uc003uwj.2	+	26	5039	c.4874G>A	c.(4873-4875)CGG>CAG	p.R1625Q	ZAN_uc003uwk.2_Missense_Mutation_p.R1625Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R202Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1625	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATGGCCATCGGGTGGCCCTA	0.498		NaN											0	0	0	0.0333	0	18	33				
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:106509636C>T	uc003vdv.3	+	2	1715	c.1630C>T	c.(1630-1632)CGA>TGA	p.R544*	PIK3CG_uc003vdu.2_Nonsense_Mutation_p.R544*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.R544*	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	544					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GGACCGGGTTCGAGCAGAAAT	0.542		NaN											0	0	0	0.039052	0	43	66				
PLXNA4	91584	broad.mit.edu	37	7	131865461	131865461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:131865461C>T	uc003vra.3	-	19	3752	c.3523G>A	c.(3523-3525)GGC>AGC	p.G1175S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1175	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TTCACGTTGCCCCCAGCCACA	0.597		NaN											0	0	0	0.014758	0	4	62				
HIPK2	28996	broad.mit.edu	37	7	139416296	139416296	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:139416296T>A	uc003vvf.3	-	2	712	c.538A>T	c.(538-540)AGC>TGC	p.S180C	HIPK2_uc003vvd.3_Missense_Mutation_p.S180C	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	180	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TCGCCCTCGCTGTTGGAGCCG	0.572		NaN											0	0	0	0.048971	0	66	83				
ESYT2	57488	broad.mit.edu	37	7	158528300	158528300	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:158528300C>T	uc003wob.1	-	20	2547	c.2481_splice	c.e20-1	p.S827_splice	ESYT2_uc003wny.1_Splice_Site|ESYT2_uc003wnz.1_Splice_Site_p.S266_splice|ESYT2_uc003woa.1_Splice_Site_p.S404_splice	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain							integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						GAAATCAAAGCTGAAATAGGA	0.428		NaN											0	0	0	0.048971	0	66	83				
PINX1	54984	broad.mit.edu	37	8	10623339	10623339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:10623339C>T	uc003wth.2	-	7	592	c.559G>A	c.(559-561)GCA>ACA	p.A187T	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Missense_Mutation_p.G161D	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	187					mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCAGTGCTGCCATCCGCTTG	0.547		NaN											0	0	0	0.048971	0	162	171				
CNBD1	168975	broad.mit.edu	37	8	87951882	87951882	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:87951882A>T	uc003ydy.2	+	4	379	c.331A>T	c.(331-333)ATA>TTA	p.I111L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	111										ovary(3)	3						TTCTAACAATATAGCTGTCCA	0.348		NaN											0	0	0	0.064281	0	33	58				
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:125113410C>A	uc003yqw.2	+	38	5162	c.4956C>A	c.(4954-4956)AAC>AAA	p.N1652K	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1652	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGGGCAACTTCAACTGGC	0.433		NaN											1	0	3.73808e-20	0.027356	4.07963e-20	29	50				
COL22A1	169044	broad.mit.edu	37	8	139606409	139606409	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:139606409G>A	uc003yvd.2	-	63	4913	c.4466C>T	c.(4465-4467)CCG>CTG	p.P1489L	COL22A1_uc011ljo.1_Missense_Mutation_p.P769L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATGTACGCCGGGGGCATCTG	0.592		NaN								HNSCC(7;0.00092)			0	0	0	0.048971	0	44	52				
DENND3	22898	broad.mit.edu	37	8	142151356	142151356	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:142151356G>A	uc003yvy.2	+	4	594	c.316G>A	c.(316-318)GTG>ATG	p.V106M	DENND3_uc003yvw.1_Missense_Mutation_p.V119M|DENND3_uc003yvx.2_Silent_p.S184S|DENND3_uc010mep.2_Missense_Mutation_p.V119M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	106	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGCTTCGTGCCCTTCGC	0.577		NaN											0	0	0	0.020292	0	14	144				
TSNARE1	203062	broad.mit.edu	37	8	143399942	143399942	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143399942A>G	uc003ywk.2	-	7	1065	c.947T>C	c.(946-948)GTG>GCG	p.V316A	TSNARE1_uc011lju.1_Missense_Mutation_p.V316A|TSNARE1_uc003ywj.2_Missense_Mutation_p.V316A|TSNARE1_uc003ywl.3_Missense_Mutation_p.V97A	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	316					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CATCTGCTTCACGGAGCTGGC	0.662		NaN											0	0	0	0.048971	0	62	125				
BAI1	575	broad.mit.edu	37	8	143599522	143599522	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143599522G>A	uc003ywm.2	+	18	3024	c.2841G>A	c.(2839-2841)CCG>CCA	p.P947P		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	947	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGACTCTGCCGTCGGTGACGC	0.647		NaN											0	0	0	0.030466	0	38	65				
FBP1	2203	broad.mit.edu	37	9	97365704	97365704	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:97365704G>T	uc004auw.3	-	7	1307	c.976C>A	c.(976-978)CTC>ATC	p.L326I	FBP1_uc010mrl.2_Missense_Mutation_p.L326I	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	326					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AGGAACTCGAGCACGTCGTCG	0.587		NaN									OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	4.96729e-08	0.049695	5.18431e-08	18	20				
PTCH1	5727	broad.mit.edu	37	9	98240410	98240410	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:98240410G>A	uc004avk.3	-	9	1462	c.1274C>T	c.(1273-1275)ACG>ATG	p.T425M	PTCH1_uc010mro.2_Missense_Mutation_p.T274M|PTCH1_uc010mrp.2_Missense_Mutation_p.T274M|PTCH1_uc010mrq.2_Missense_Mutation_p.T274M|PTCH1_uc004avl.3_Missense_Mutation_p.T274M|PTCH1_uc010mrr.2_Missense_Mutation_p.T359M|PTCH1_uc004avm.3_Missense_Mutation_p.T424M|PTCH1_uc010mrs.1_Missense_Mutation_p.T145M	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	425	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCCAGGGTCGTGGTGGTGAA	0.532		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.01892	0	26	68				
PAPPA	5069	broad.mit.edu	37	9	119065048	119065048	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:119065048G>A	uc004bjn.2	+	10	3347	c.2966G>A	c.(2965-2967)CGG>CAG	p.R989Q	PAPPA_uc011lxp.1_Missense_Mutation_p.R684Q|PAPPA_uc011lxq.1_Missense_Mutation_p.R364Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	989					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GAACCCAGCCGGTGCTATTTC	0.453		NaN											0	0	0	0.043863	0	18	45				
SH2D3C	10044	broad.mit.edu	37	9	130536733	130536733	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:130536733G>C	uc004bsc.2	-	2	193	c.51C>G	c.(49-51)TTC>TTG	p.F17L	SH2D3C_uc004bsd.1_5'UTR	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	17					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CAAAGCCCTTGAACTTGAAGA	0.473		NaN											0	0	0	0.014758	0	5	48				
NOTCH1	4851	broad.mit.edu	37	9	139399556	139399556	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139399556G>A	uc004chz.2	-	26	4587	c.4587C>T	c.(4585-4587)AAC>AAT	p.N1529N	NOTCH1_uc004cia.1_Silent_p.N759N	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1529	Extracellular (Potential).|LNR 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTACAGGGGGCTGTGGGGGG	0.731		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.038395	0	16	18				
BMX	660	broad.mit.edu	37	X	15552335	15552335	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:15552335T>A	uc004cww.2	+	12	1208	c.1020T>A	c.(1018-1020)AAT>AAA	p.N340K	BMX_uc004cwx.3_Missense_Mutation_p.N340K|BMX_uc004cwy.3_Missense_Mutation_p.N340K	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	340	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					CTGTTACTAGTGATAAAAAAG	0.303		NaN											0	0	0	0.028581	0	16	54				
KLHL34	257240	broad.mit.edu	37	X	21675187	21675187	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:21675187A>G	uc004czz.1	-	1	1262	c.720T>C	c.(718-720)TCT>TCC	p.S240S		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	240										ovary(1)	1						GCACGAGGCCAGAGCCCGAGT	0.672		NaN											0	0	0	0.021553	0	6	19				
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:24024257T>C	uc004dba.3	-	3	810	c.554A>G	c.(553-555)GAT>GGT	p.D185G		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	185	BACK.									ovary(1)|breast(1)	2						ATGATCATTATCCAAGTAAGA	0.478		NaN											0	0	0	0.048971	0	79	17				
UBQLN2	29978	broad.mit.edu	37	X	56591910	56591910	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:56591910G>A	uc004dus.2	+	1	1839	c.1604G>A	c.(1603-1605)GGG>GAG	p.G535E	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	535						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCCACGGGGCCTACTGTG	0.622		NaN											0	0	0	0.021553	0	5	1				
STAG2	10735	broad.mit.edu	37	X	123196751	123196751	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:123196751G>A	uc004etz.3	+	17	1978	c.1639_splice	c.e17-1	p.V547_splice	STAG2_uc004eua.2_Splice_Site_p.V547_splice|STAG2_uc004eub.2_Splice_Site_p.V547_splice|STAG2_uc004euc.2_Splice_Site_p.V547_splice|STAG2_uc004eud.2_Splice_Site_p.V547_splice|STAG2_uc004eue.2_Splice_Site_p.V547_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TGTTCCTTTAGGTGCTTACAG	0.343		NaN											0	0	0	0.037714	0	29	8		Valid		
CLCN6	1185	broad.mit.edu	37	1	11888677	11888677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:11888677G>A	uc001ate.3	+	12	1230	c.1117G>A	c.(1117-1119)GTC>ATC	p.V373I	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.V89I|CLCN6_uc010oau.1_Missense_Mutation_p.V351I	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	373	Helical; (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTAAGCTCGTCAGGTATCT	0.627		NaN											0	0	0	0.001168	0	6	108				
VPS13D	55187	broad.mit.edu	37	1	12371682	12371682	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12371682T>C	uc001atv.2	+	28	6963	c.6822T>C	c.(6820-6822)CAT>CAC	p.H2274H	VPS13D_uc001atw.2_Silent_p.H2274H|VPS13D_uc001atx.2_Silent_p.H1462H|VPS13D_uc001aty.1_Silent_p.H12H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2274					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAGAATTCATGTGAGTGAGA	0.433		NaN											0	0	0	0.020292	0	14	109				
AADACL4	343066	broad.mit.edu	37	1	12704629	12704629	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:12704629T>G	uc001auf.2	+	1	64	c.64T>G	c.(64-66)TGG>GGG	p.W22G		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	22	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTTTGTCTGGGCTGTCTT	0.552		NaN											0	0	0	0.013537	0	13	124				
MFAP2	4237	broad.mit.edu	37	1	17303274	17303274	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:17303274G>A	uc001azw.2	-	5	303	c.170C>T	c.(169-171)CCC>CTC	p.P57L	MFAP2_uc001azx.2_Missense_Mutation_p.P56L|MFAP2_uc001azy.2_Missense_Mutation_p.P57L|MFAP2_uc010ocl.1_Missense_Mutation_p.P56L	NM_002403	NP_002394	P55001	MFAP2_HUMAN	microfibrillar-associated protein 2 isoform a	57						microfibril					0		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCCTCGGAGGGCCGAGGAGT	0.383		NaN											0	0	0	0.009096	0	4	89				
ARID1A	8289	broad.mit.edu	37	1	27057947	27057947	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057947C>T	uc001bmv.1	+	3	2028	c.1655C>T	c.(1654-1656)TCA>TTA	p.S552L	ARID1A_uc001bmt.1_Missense_Mutation_p.S552L|ARID1A_uc001bmu.1_Missense_Mutation_p.S552L|ARID1A_uc001bmw.1_Missense_Mutation_p.S169L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCCTACTCACAGCCACAG	0.652		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.009535	0	31	203		Valid		
ARID1A	8289	broad.mit.edu	37	1	27057988	27057988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:27057988C>T	uc001bmv.1	+	3	2069	c.1696C>T	c.(1696-1698)CAG>TAG	p.Q566*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q566*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q183*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	566	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAACCTCAGCAGCCAGC	0.637		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.010818	0	32	207		Valid		
CSMD2	114784	broad.mit.edu	37	1	34164482	34164482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34164482C>T	uc001bxn.1	-	24	3705	c.3676G>A	c.(3676-3678)GAA>AAA	p.E1226K	CSMD2_uc001bxm.1_Missense_Mutation_p.E1266K|CSMD2_uc001bxo.1_Missense_Mutation_p.E139K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1226	Sushi 7.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAATGACCTTCATCATGAACC	0.537		NaN											0	0	0	0.00308	0	7	44				
CSMD2	114784	broad.mit.edu	37	1	34166205	34166205	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:34166205C>T	uc001bxn.1	-	23	3554	c.3525G>A	c.(3523-3525)GTG>GTA	p.V1175V	CSMD2_uc001bxm.1_Silent_p.V1215V|CSMD2_uc001bxo.1_Silent_p.V88V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1175	Extracellular (Potential).|CUB 7.			V -> E (in Ref. 2; BAC87101).		integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTCAAAGTCACCCCCATCA	0.483		NaN											0	0	0	0.016723	0	12	85				
ZC3H12A	80149	broad.mit.edu	37	1	37947335	37947335	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:37947335C>T	uc001cbb.3	+	4	867	c.717C>T	c.(715-717)ATC>ATT	p.I239I	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	239					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACGGGATCGTGGTTTCCA	0.567		NaN											0	0	0	0.013537	0	11	73				
EPS15	2060	broad.mit.edu	37	1	51912718	51912718	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:51912718T>C	uc001csq.1	-	10	803	c.711A>G	c.(709-711)AAA>AAG	p.K237K	EPS15_uc009vyz.1_Silent_p.K237K	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	237	EH 3.|EF-hand 2.|2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						CGTCCATATCTTTATCAGTTT	0.363		NaN	T	MLL	ALL								0	0	0	0.00308	0	7	67				
GLIS1	148979	broad.mit.edu	37	1	54059901	54059901	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:54059901C>G	uc001cvr.1	-	3	1242	c.675G>C	c.(673-675)AAG>AAC	p.K225N		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	225					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGTCCTCGCCCTTGCGCTGGT	0.662		NaN											0	0	0	0.004672	0	3	20				
DHCR24	1718	broad.mit.edu	37	1	55331117	55331117	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:55331117C>T	uc001cyc.1	-	6	1008	c.879G>A	c.(877-879)CTG>CTA	p.L293L	DHCR24_uc010ooi.1_5'UTR|DHCR24_uc010ooj.1_Intron|DHCR24_uc010ook.1_Silent_p.L252L	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	293					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						CAATGCTATTCAGCTGAAATG	0.408		NaN											0	0	0	0.006214	0	8	58				
C1orf173	127254	broad.mit.edu	37	1	75036915	75036915	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:75036915C>T	uc001dgg.2	-	14	4698	c.4479G>A	c.(4477-4479)GCG>GCA	p.A1493A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1493										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GTGTTGCCATCGCCTGTAGAC	0.522		NaN											0	0	0	0.020292	0	13	150				
ADAM30	11085	broad.mit.edu	37	1	120436733	120436733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:120436733C>A	uc001eij.2	-	1	2381	c.2227G>T	c.(2227-2229)GAA>TAA	p.E743*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	743	2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTTTTAGATTCTTCCTGTACA	0.358		NaN											1	0	0.00307968	0.00308	0.00322292	8	157				
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152282624C>G	uc001ezu.1	-	3	4774	c.4738G>C	c.(4738-4740)GAA>CAA	p.E1580Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1580	Ser-rich.|Filaggrin 9.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCTCCCTGGCCC	0.597		NaN							Ichthyosis				0	0	0	0.008361	0	31	203				
FLG	2312	broad.mit.edu	37	1	152285731	152285731	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:152285731G>A	uc001ezu.1	-	3	1667	c.1631C>T	c.(1630-1632)TCC>TTC	p.S544F	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	544	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGATGGGAACCTGAGTG	0.557		NaN							Ichthyosis				0	0	0	0.00623	0	40	301				
DARS2	55157	broad.mit.edu	37	1	173795890	173795890	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:173795890G>C	uc001gjh.1	+	2	603	c.193G>C	c.(193-195)GAA>CAA	p.E65Q	CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	65					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	CTTAGGCCAAGAAGTCACCTT	0.398		NaN											0	0	0	0.006214	0	7	70				
CR2	1380	broad.mit.edu	37	1	207639892	207639892	+	Missense_Mutation	SNP	C	C	T	rs150906379		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:207639892C>T	uc001hfw.2	+	2	174	c.80C>T	c.(79-81)CCG>CTG	p.P27L	CR2_uc001hfv.2_Missense_Mutation_p.P27L|CR2_uc009xch.2_Missense_Mutation_p.P27L	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	27	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GGCTCTCCTCCGCCTATCCTA	0.413		NaN											0	0	0	0.016723	0	12	131				
MOSC2	54996	broad.mit.edu	37	1	220955233	220955233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:220955233G>A	uc001hmq.2	+	7	1196	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	MOSC2_uc001hmr.2_Missense_Mutation_p.R333Q|MOSC2_uc009xdx.2_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	333	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CCTGTGTATCGGATGGTGTAG	0.438		NaN											0	0	0	0.020292	0	11	135				
ZNF692	55657	broad.mit.edu	37	1	249144438	249144438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:249144438G>A	uc001ifc.1	-	12	1698	c.1531C>T	c.(1531-1533)CAG>TAG	p.Q511*	ZNF692_uc001iez.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifa.1_Nonsense_Mutation_p.Q233*|ZNF692_uc001ifb.1_Nonsense_Mutation_p.Q307*|ZNF692_uc001ifd.1_Nonsense_Mutation_p.Q510*|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Nonsense_Mutation_p.Q466*|ZNF692_uc010pzr.1_Nonsense_Mutation_p.Q516*	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTTGGAGCCTGAGGAGATGCA	0.612		NaN											0	0	0	0.001984	0	5	51				
CUBN	8029	broad.mit.edu	37	10	16932503	16932503	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:16932503C>G	uc001ioo.2	-	55	8674	c.8622G>C	c.(8620-8622)GTG>GTC	p.V2874V	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V230V	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2874	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTTTGTCCACCTCCTCAG	0.498		NaN											0	0	0	0.00308	0	6	62				
CUBN	8029	broad.mit.edu	37	10	17087133	17087133	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:17087133G>C	uc001ioo.2	-	25	3597	c.3545C>G	c.(3544-3546)CCG>CGG	p.P1182R		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1182	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGGGCATCGGGTAGTTGGG	0.493		NaN											0	0	0	0.00308	0	7	61				
PPYR1	5540	broad.mit.edu	37	10	47087272	47087272	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:47087272C>A	uc001jee.2	+	3	908	c.489C>A	c.(487-489)ATC>ATA	p.I163I	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.I163I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	163	Helical; Name=4; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						TTGTGCTCATCTGGGTCATTG	0.587		NaN											1	0	0.00116845	0.001168	0.00123234	6	90				
KCNMA1	3778	broad.mit.edu	37	10	78943241	78943241	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:78943241A>G	uc001jxn.2	-	5	923	c.746T>C	c.(745-747)GTA>GCA	p.V249A	KCNMA1_uc001jxj.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V69A|KCNMA1_uc001jxo.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V249A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V249A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	249	Helical; Name=Segment S3; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAATCCACTACAGAGTTCAC	0.448		NaN											0	0	0	0.009096	0	4	33				
HPSE2	60495	broad.mit.edu	37	10	100242424	100242424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:100242424G>A	uc001kpn.1	-	11	1642	c.1582C>T	c.(1582-1584)CAG>TAG	p.Q528*	HPSE2_uc009xwc.1_Nonsense_Mutation_p.Q518*|HPSE2_uc001kpo.1_Nonsense_Mutation_p.Q460*|HPSE2_uc009xwd.1_Nonsense_Mutation_p.Q406*	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	528					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATAGGGCTGCAGCAGGTAC	0.522		NaN											0	0	0	0.008361	0	28	160				
C10orf2	56652	broad.mit.edu	37	10	102748960	102748960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:102748960C>G	uc001ksf.2	+	1	1668	c.993C>G	c.(991-993)TTC>TTG	p.F331L	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.F331L|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	331					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACGATGCTTCTTGGTGCGAC	0.572		NaN											0	0	0	0.020292	0	13	67				
HABP2	3026	broad.mit.edu	37	10	115337829	115337829	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:115337829T>A	uc001lai.3	+	6	596	c.493T>A	c.(493-495)TGC>AGC	p.C165S	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Silent_p.P153P	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	165	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGGCTACCTGCTCCCGGCA	0.557		NaN											0	0	0	0.006214	0	10	68				
GPR123	84435	broad.mit.edu	37	10	134912196	134912196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:134912196C>T	uc001llx.3	+	4	620	c.184C>T	c.(184-186)CAC>TAC	p.H62Y	GPR123_uc001llw.2_Missense_Mutation_p.H782Y	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	62	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTTCTGCTTCCACGCGGCCCT	0.652		NaN											0	0	0	0.004482	0	9	61				
ZNF214	7761	broad.mit.edu	37	11	7021340	7021340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:7021340G>A	uc001mfa.2	-	3	1877	c.1574C>T	c.(1573-1575)CCC>CTC	p.P525L	ZNF214_uc010ray.1_Missense_Mutation_p.P525L|ZNF214_uc009yfh.1_Missense_Mutation_p.P525L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACATTTATAGGGCTTTTCTCC	0.423		NaN											0	0	0	0.00308	0	8	67				
TMEM41B	440026	broad.mit.edu	37	11	9305135	9305135	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:9305135C>T	uc001mhm.2	-	7	1020	c.712G>A	c.(712-714)GCA>ACA	p.A238T	TMEM41B_uc001mhn.1_Missense_Mutation_p.A238T	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	238	Helical; (Potential).					integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAAGGAGGTGCGACACCTGAA	0.333		NaN											0	0	0	0.001984	0	6	29				
OR5AS1	219447	broad.mit.edu	37	11	55798793	55798793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55798793C>T	uc010riw.1	+	1	899	c.899C>T	c.(898-900)GCT>GTT	p.A300V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					GTGAAAAATGCTCTCAAAAAG	0.308		NaN											0	0	0	0.00308	0	8	32				
OR8K5	219453	broad.mit.edu	37	11	55927583	55927583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:55927583G>C	uc010rja.1	-	1	211	c.211C>G	c.(211-213)CTT>GTT	p.L71V		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATTACCAAGATCAACAAAA	0.403		NaN											0	0	0	0.010729	0	12	115				
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:57135555C>T	uc001nju.2	+	9	991	c.915C>T	c.(913-915)TTC>TTT	p.F305F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	305	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GCATCCGCTTCGACGTGCTGG	0.567		NaN											0	0	0	0.014758	0	4	44				
AHNAK	79026	broad.mit.edu	37	11	62288917	62288917	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62288917G>A	uc001ntl.2	-	5	13272	c.12972C>T	c.(12970-12972)TTC>TTT	p.F4324F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4324					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTGGCATGCTGAATTTGGGCA	0.517		NaN											0	0	0	0.001984	0	7	222				
AHNAK	79026	broad.mit.edu	37	11	62289517	62289517	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62289517G>A	uc001ntl.2	-	5	12672	c.12372C>T	c.(12370-12372)CTC>CTT	p.L4124L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4124					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCGGTGCCTTGAGGTGCAGGT	0.493		NaN											0	0	0	0.001168	0	6	141				
AHNAK	79026	broad.mit.edu	37	11	62290726	62290726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:62290726G>C	uc001ntl.2	-	5	11463	c.11163C>G	c.(11161-11163)ATC>ATG	p.I3721M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3721					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTGAGCCTTCGATGTTAATGT	0.458		NaN											0	0	0	0.006214	0	9	153				
RARRES3	5920	broad.mit.edu	37	11	63312303	63312303	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:63312303G>T	uc001nxf.3	+	3	397	c.329G>T	c.(328-330)AGC>ATC	p.S110I		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	110					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						AGTATTGTGAGCAGGAACTGT	0.512		NaN											1	0	0.000442599	0.006214	0.00047048	9	132				
PACS1	55690	broad.mit.edu	37	11	65977851	65977851	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:65977851C>T	uc001oha.1	+	3	597	c.463C>T	c.(463-465)CGC>TGC	p.R155C	PACS1_uc001ogz.1_Missense_Mutation_p.R155C	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	155					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						AAGAATTCTTCGCTCCAACGA	0.328		NaN											0	0	0	0.020292	0	14	56				
SUV420H1	51111	broad.mit.edu	37	11	67926270	67926270	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:67926270T>C	uc001onm.1	-	11	1799	c.1543A>G	c.(1543-1545)AGA>GGA	p.R515G	SUV420H1_uc009yse.1_Missense_Mutation_p.R101G|SUV420H1_uc001onn.1_Missense_Mutation_p.R343G|SUV420H1_uc009ysf.2_Missense_Mutation_p.R275G	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CTGTGTTCTCTCGCCGCGTGT	0.522		NaN											0	0	0	0.009096	0	4	59				
USP35	57558	broad.mit.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:77911809C>T	uc009yva.1	+	6	1398	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	384					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622		NaN											0	0	0	0.001984	0	4	34				
CARD17	440068	broad.mit.edu	37	11	104971361	104971361	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:104971361C>T	uc001pir.1	-	2	170	c.153G>A	c.(151-153)ATG>ATA	p.M51I	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	51	CARD.				proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity			ovary(1)	1						GGGCCTTATCCATAACTGTAG	0.443		NaN											0	0	0	0.004007	0	16	84				
FOXRED1	55572	broad.mit.edu	37	11	126147526	126147526	+	Missense_Mutation	SNP	C	C	T	rs142489681		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:126147526C>T	uc001qdi.2	+	11	1450	c.1403C>T	c.(1402-1404)CCC>CTC	p.P468L	FOXRED1_uc010sbn.1_Missense_Mutation_p.P298L|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P281L|FOXRED1_uc010sbq.1_Missense_Mutation_p.P335L|FOXRED1_uc001qdj.2_Missense_Mutation_p.P257L|FOXRED1_uc010sbr.1_Missense_Mutation_p.P454L|FOXRED1_uc001qdk.2_Missense_Mutation_p.P257L	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	468						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GACCTGAGCCCCTTCCTCTTT	0.572		NaN											0	0	0	0.014758	0	4	40				
OPCML	4978	broad.mit.edu	37	11	132306105	132306105	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:132306105C>T	uc001qgs.2	-	6	862	c.812G>A	c.(811-813)AGG>AAG	p.R271K	OPCML_uc001qgu.2_Missense_Mutation_p.R264K|OPCML_uc010sck.1_Missense_Mutation_p.R271K|OPCML_uc001qgt.2_Missense_Mutation_p.R270K|OPCML_uc010scl.1_Missense_Mutation_p.R230K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	271	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTTTTCAATCCTCATTCCATC	0.448		NaN											0	0	0	0.009096	0	4	109				
NCAPD3	23310	broad.mit.edu	37	11	134029834	134029834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:134029834C>G	uc001qhd.1	-	29	4426	c.3820G>C	c.(3820-3822)GAT>CAT	p.D1274H	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.D224H	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1274	Potential.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCGGCCACATCTGCATGTTTT	0.562		NaN											0	0	0	0.014758	0	5	23				
VWF	7450	broad.mit.edu	37	12	6085359	6085359	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6085359G>C	uc001qnn.1	-	43	7605	c.7355C>G	c.(7354-7356)ACC>AGC	p.T2452S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2452	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GTCGGTGCAGGTGCACACATC	0.607		NaN											0	0	0	0.009096	0	4	89				
CD9	928	broad.mit.edu	37	12	6344475	6344475	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:6344475G>A	uc001qnp.1	+	6	873	c.429G>A	c.(427-429)CTG>CTA	p.L143L	CD9_uc010sev.1_Silent_p.L143L|CD9_uc001qnq.1_Silent_p.L143L	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	143	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						GGGAAACGCTGAAAGCCATCC	0.532		NaN											0	0	0	0.009096	0	4	64				
PDZRN4	29951	broad.mit.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:41966808G>C	uc010skn.1	+	10	1698	c.1630G>C	c.(1630-1632)GAG>CAG	p.E544Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.E485Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E483Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E370Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	743							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458		NaN											0	0	0	0.006214	0	9	60				
STAC3	246329	broad.mit.edu	37	12	57638099	57638099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638099C>T	uc001snp.2	-	10	1052	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	STAC3_uc009zpl.2_Silent_p.A3A|STAC3_uc001snq.2_Missense_Mutation_p.R247Q|STAC3_uc010srm.1_Missense_Mutation_p.R100Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	286	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TTCTCTCACCCGCCACCATTC	0.552		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	75				
STAC3	246329	broad.mit.edu	37	12	57638949	57638949	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57638949C>G	uc001snp.2	-	7	844	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E178Q|STAC3_uc010srm.1_Missense_Mutation_p.E31Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	217					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						TTGCCTTCCTCTGGTCTGGCC	0.592		NaN											0	0	0	0.016723	0	12	117				
R3HDM2	22864	broad.mit.edu	37	12	57648809	57648809	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:57648809G>C	uc009zpm.1	-	22	2713	c.2678C>G	c.(2677-2679)TCT>TGT	p.S893C	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.S588C|R3HDM2_uc001snr.2_Missense_Mutation_p.S620C|R3HDM2_uc001sns.2_Missense_Mutation_p.S893C|R3HDM2_uc001snt.2_Missense_Mutation_p.S907C|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	893						nucleus	nucleic acid binding			ovary(2)	2						CTTGGCGCCAGACATGGCGAG	0.647		NaN											0	0	0	0.001984	0	5	70				
EID3	493861	broad.mit.edu	37	12	104697894	104697894	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:104697894C>T	uc001tkw.2	+	1	346	c.182C>T	c.(181-183)TCG>TTG	p.S61L	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						ATCGTGAGCTCGGCGAACAAC	0.612		NaN											0	0	0	0.014758	0	5	50				
NUAK1	9891	broad.mit.edu	37	12	106460646	106460646	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:106460646G>A	uc001tlj.1	-	7	3300	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	640							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCATGTCTGTGAGGAGGGAGA	0.627		NaN											0	0	0	0.001984	0	6	96				
TRPV4	59341	broad.mit.edu	37	12	110230175	110230175	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:110230175G>A	uc001tpj.1	-	11	1979	c.1884C>T	c.(1882-1884)TAC>TAT	p.Y628Y	TRPV4_uc001tpg.1_Silent_p.Y594Y|TRPV4_uc001tph.1_Silent_p.Y581Y|TRPV4_uc001tpi.1_Silent_p.Y521Y|TRPV4_uc001tpk.1_Silent_p.Y628Y|TRPV4_uc001tpl.1_Silent_p.Y568Y	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	628	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CACCTGAAGCGTAGCCGATCA	0.537		NaN											0	0	0	0.014758	0	5	27				
DTX1	1840	broad.mit.edu	37	12	113515265	113515265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:113515265C>G	uc001tuk.1	+	2	632	c.296C>G	c.(295-297)CCG>CGG	p.P99R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	99	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						TTCTACGACCCGTCGTCGGCG	0.667		NaN											0	0	0	0.009096	0	4	54				
MPHOSPH9	10198	broad.mit.edu	37	12	123706297	123706297	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr12:123706297G>A	uc001uel.2	-	1	145	c.38C>T	c.(37-39)TCT>TTT	p.S13F	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	13					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATGGATAACAGATTCATTTCT	0.398		NaN											0	0	0	0.014758	0	5	80				
PABPC3	5042	broad.mit.edu	37	13	25670975	25670975	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:25670975G>T	uc001upy.2	+	1	700	c.639G>T	c.(637-639)AAG>AAT	p.K213N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	213	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTTTGGCAAGTTCGGGCCCG	0.428		NaN											1	0	1.23904e-05	0.014758	1.34354e-05	5	61				
C13orf34	79866	broad.mit.edu	37	13	73317730	73317730	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr13:73317730G>C	uc001viv.1	+	6	563	c.444G>C	c.(442-444)GAG>GAC	p.E148D	C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.E223D|C13orf34_uc010thr.1_Missense_Mutation_p.E78D|C13orf34_uc001viw.1_Missense_Mutation_p.E97D	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	148					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TTCATTCTGAGAAAAGCGATG	0.343		NaN											0	0	0	0.014758	0	4	51				
TGM1	7051	broad.mit.edu	37	14	24727874	24727874	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:24727874G>A	uc001wod.2	-	8	1289	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	389			R -> H (in NCIE).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCAGGCAGCGCAGCACTGTG	0.567		NaN											0	0	0	0.009096	0	4	38				
STON2	85439	broad.mit.edu	37	14	81744238	81744238	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:81744238C>T	uc010tvu.1	-	4	1618	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	STON2_uc001xvk.1_Missense_Mutation_p.E473K|STON2_uc010tvt.1_Missense_Mutation_p.E270K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	473	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTTGAACTCACGGAATGGT	0.493		NaN											0	0	0	0.001984	0	7	169				
PPP1R13B	23368	broad.mit.edu	37	14	104263749	104263749	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104263749C>T	uc001yof.1	-	2	399	c.116G>A	c.(115-117)GGA>GAA	p.G39E	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	39					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCTGCCTTCTCCAGGTTCCTT	0.378		NaN											0	0	0	0.008871	0	17	116				
C14orf2	9556	broad.mit.edu	37	14	104381411	104381411	+	Missense_Mutation	SNP	C	C	T	rs149160111	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr14:104381411C>T	uc001yoi.3	-	2	213	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	C14orf2_uc001yoj.3_Missense_Mutation_p.R56Q|C14orf2_uc010aww.1_Missense_Mutation_p.R39Q|C14orf2_uc001yok.2_Missense_Mutation_p.R39Q	NM_004894	NP_004885	P56378	68MP_HUMAN	6.8 kDa mitochondrial proteolipid isoform 1	39						mitochondrion					0				Epithelial(152;0.223)		ACCAGCAGCCCGGATTTTATA	0.383		NaN											0	0	0	0.001168	0	4	58				
MKRN3	7681	broad.mit.edu	37	15	23811314	23811314	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:23811314G>A	uc001ywh.3	+	1	861	c.385G>A	c.(385-387)GAG>AAG	p.E129K	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E129K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	129						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GATGGCCACTGAGGGTGGCGT	0.622		NaN											0	0	0	0.001984	0	5	42				
MAP1A	4130	broad.mit.edu	37	15	43820200	43820200	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:43820200C>A	uc001zrt.2	+	4	6996	c.6529C>A	c.(6529-6531)CCC>ACC	p.P2177T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2177						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCAGCTCCCCCACAGCT	0.652		NaN											1	0	3.83957e-06	0.016522	4.1971e-06	20	146				
FRMD5	84978	broad.mit.edu	37	15	44181066	44181066	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:44181066C>G	uc001ztl.2	-	9	910	c.733G>C	c.(733-735)GAG>CAG	p.E245Q	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.E156Q|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.E11Q	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	245	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTGGTCACCTCATTCCTAGAA	0.478		NaN											0	0	0	0.001984	0	7	52				
SPPL2A	84888	broad.mit.edu	37	15	51041038	51041038	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:51041038G>A	uc001zyv.2	-	3	387	c.207C>T	c.(205-207)TCC>TCT	p.S69S		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	69	Cytoplasmic (Potential).|PA.					integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATAGTGGTGTGGAAGTCAGAT	0.353		NaN											0	0	0	0.013537	0	11	106				
MCTP2	55784	broad.mit.edu	37	15	95019959	95019959	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr15:95019959C>T	uc002btj.2	+	21	2570	c.2505C>T	c.(2503-2505)CCC>CCT	p.P835P	MCTP2_uc010boj.2_Silent_p.P564P|MCTP2_uc010bok.2_Silent_p.P780P|MCTP2_uc002btl.2_Silent_p.P423P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	835					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCGAAATCCCTATTCCATCG	0.308		NaN											0	0	0	0.004482	0	8	59				
TXNDC11	51061	broad.mit.edu	37	16	11773514	11773514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:11773514C>G	uc010buu.1	-	13	2557	c.2495G>C	c.(2494-2496)AGA>ACA	p.R832T	TXNDC11_uc002dbg.1_Missense_Mutation_p.R805T	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	832	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CTGGATCTCTCTCTCCAAGTG	0.582		NaN											0	0	0	0.001168	0	5	39				
TMC5	79838	broad.mit.edu	37	16	19501754	19501754	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:19501754C>G	uc002dgc.3	+	18	3360	c.2611C>G	c.(2611-2613)CTG>GTG	p.L871V	TMC5_uc010vaq.1_Missense_Mutation_p.L819V|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.L871V|TMC5_uc002dgd.1_Missense_Mutation_p.L625V|TMC5_uc002dge.3_Missense_Mutation_p.L625V|TMC5_uc002dgf.3_Missense_Mutation_p.L554V|TMC5_uc002dgg.3_Missense_Mutation_p.L512V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	871	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						TTTTCGAGGTCTGCCTCTCTT	0.478		NaN											0	0	0	0.007413	0	19	116				
PAPD5	64282	broad.mit.edu	37	16	50257151	50257151	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:50257151G>A	uc010vgo.1	+	8	1224	c.1189G>A	c.(1189-1191)GAA>AAA	p.E397K	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.E188K|PAPD5_uc002ega.2_Missense_Mutation_p.E188K	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	318	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAATTTTTTGAATTATATGG	0.343		NaN											0	0	0	0.009096	0	4	59				
CX3CL1	6376	broad.mit.edu	37	16	57406489	57406489	+	Silent	SNP	G	G	A	rs150111366		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:57406489G>A	uc002eli.2	+	1	76	c.9G>A	c.(7-9)CCG>CCA	p.P3P		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	3					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCATGGCTCCGATATCTCTGT	0.657		NaN											0	0	0	0.020292	0	12	42				
CDH11	1009	broad.mit.edu	37	16	64984875	64984875	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:64984875C>T	uc002eoi.2	-	12	2123	c.1689G>A	c.(1687-1689)CAG>CAA	p.Q563Q	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.Q563Q|CDH11_uc010vin.1_Silent_p.Q437Q	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	563	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGTCCTGCTTCTGCCGACTGA	0.592		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.013537	0	11	32				
CTCF	10664	broad.mit.edu	37	16	67662347	67662347	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:67662347C>A	uc002etl.2	+	9	1883	c.1593C>A	c.(1591-1593)ACC>ACA	p.T531T	CTCF_uc010cek.2_Silent_p.T203T|CTCF_uc002etm.1_Silent_p.T20T	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	531	C2H2-type 10.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCGATAAGACCTTCCGCCAGA	0.547		NaN											1	0	1.10513e-12	0.014323	1.25372e-12	23	76				
NUDT7	283927	broad.mit.edu	37	16	77759451	77759451	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:77759451C>G	uc010chd.2	+	2	228	c.159C>G	c.(157-159)CTC>CTG	p.L53L	NUDT7_uc002fff.2_Silent_p.L53L|NUDT7_uc010vnj.1_Silent_p.L53L	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	53	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						AAGGAAAACTCCATTTGTTGT	0.428		NaN											0	0	0	0.003163	0	12	41				
PRPF8	10594	broad.mit.edu	37	17	1562039	1562039	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:1562039G>A	uc002fte.2	-	33	5271	c.5157C>T	c.(5155-5157)TTC>TTT	p.F1719F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1719	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCTGCCTGGGAACCAGTTTC	0.507		NaN											0	0	0	0.001984	0	6	60				
DNAH2	146754	broad.mit.edu	37	17	7721269	7721269	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7721269G>C	uc002giu.1	+	67	10256	c.10242G>C	c.(10240-10242)CTG>CTC	p.L3414L	DNAH2_uc010cnm.1_Silent_p.L352L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3414	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTAGGGCCTGAAGATCATCG	0.577		NaN											0	0	0	0.003163	0	13	103				
GUCY2D	3000	broad.mit.edu	37	17	7915609	7915609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:7915609C>T	uc002gjt.2	+	9	1971	c.1897C>T	c.(1897-1899)CAG>TAG	p.Q633*		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	633	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTCCTCGCTCAGAGAGAAAT	0.632		NaN											0	0	0	0.009096	0	4	56				
KRT28	162605	broad.mit.edu	37	17	38955182	38955182	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:38955182C>A	uc002hvh.1	-	2	586	c.520G>T	c.(520-522)GAT>TAT	p.D174Y		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	174	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				AGCCTGAAATCATCAGCAGCC	0.318		NaN											1	0	1.26484e-09	0.00308	1.41119e-09	6	122				
BRIP1	83990	broad.mit.edu	37	17	59926522	59926522	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:59926522T>C	uc002izk.1	-	5	616	c.475A>G	c.(475-477)AAA>GAA	p.K159E		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	159	Nuclear localization signal (Potential).|Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						CGAATTCTTTTCTTCTCTACT	0.378		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.020292	0	15	92				
SCN4A	6329	broad.mit.edu	37	17	62038715	62038715	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:62038715G>A	uc002jds.1	-	11	1760	c.1683C>T	c.(1681-1683)TGC>TGT	p.C561C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCCACGGGGCGCAGCAGTTCC	0.562		NaN											0	0	0	0.008291	0	9	197				
CSNK1D	1453	broad.mit.edu	37	17	80223620	80223620	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr17:80223620T>C	uc002kej.2	-	2	445	c.129A>G	c.(127-129)AAA>AAG	p.K43K	CSNK1D_uc002kef.2_Silent_p.K43K|CSNK1D_uc002kei.2_Silent_p.K43K|CSNK1D_uc010wvj.1_5'UTR	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	43	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GGTGTTTGGTTTTGACACATT	0.463		NaN											0	0	0	0.00308	0	7	127				
EMILIN2	84034	broad.mit.edu	37	18	2913063	2913063	+	Splice_Site	SNP	A	A	C	rs113730111		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:2913063A>C	uc002kln.2	+	8	2984	c.2825_splice	c.e8-2	p.G942_splice		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor						cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		TTCTCCCCGCAGGGGTCTTCA	0.617		NaN											0	0	0	0.009096	0	4	39				
C18orf8	29919	broad.mit.edu	37	18	21083604	21083604	+	Silent	SNP	C	C	T	rs143953070	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:21083604C>T	uc010xax.1	+	1	143	c.22C>T	c.(22-24)CTG>TTG	p.L8L	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Silent_p.L8L|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	8										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGACTACTATCTGGAGCTGTG	0.537		NaN											0	0	0	0.009096	0	4	38				
ATP5A1	498	broad.mit.edu	37	18	43668178	43668178	+	Silent	SNP	G	G	A	rs59386231		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:43668178G>A	uc002lbr.1	-	6	786	c.696C>T	c.(694-696)TTC>TTT	p.F232F	ATP5A1_uc010dnl.1_Silent_p.F182F|ATP5A1_uc002lbs.1_Silent_p.F182F|ATP5A1_uc002lbt.1_Silent_p.F232F	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	232					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						ATCCATCATTGAAACGTTTCT	0.343		NaN											0	0	0	0.004482	0	7	85				
KATNAL2	83473	broad.mit.edu	37	18	44593394	44593394	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:44593394C>T	uc002lco.2	+	8	707	c.513C>T	c.(511-513)GAC>GAT	p.D171D	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	243						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						CATTGCAGGACATTTATCTCC	0.353		NaN											0	0	0	0.009096	0	4	34				
CDH20	28316	broad.mit.edu	37	18	59206358	59206358	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:59206358G>C	uc010dps.1	+	8	1522	c.1510G>C	c.(1510-1512)GAG>CAG	p.E504Q	CDH20_uc002lif.2_Missense_Mutation_p.E498Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	504	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTTTGTCTGTGAGAACGCCAA	0.463		NaN											0	0	0	0.014323	0	20	121				
PRTN3	5657	broad.mit.edu	37	19	843531	843531	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:843531C>T	uc002lqa.1	+	2	156	c.132C>T	c.(130-132)TCC>TCT	p.S44S		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	44	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGGCCTCCCTGCAGATGC	0.706		NaN											0	0	0	0.009096	0	3	4				
DPP9	91039	broad.mit.edu	37	19	4704192	4704192	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:4704192G>C	uc002mba.2	-	6	809	c.551C>G	c.(550-552)GCC>GGC	p.A184G	DPP9_uc002mbb.2_Missense_Mutation_p.A184G|DPP9_uc002mbc.2_Missense_Mutation_p.A184G	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	155					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTGTTGCTGGCCTGGAAGAG	0.672		NaN											0	0	0	0.004672	0	3	56				
EVI5L	115704	broad.mit.edu	37	19	7917998	7917998	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:7917998G>C	uc002min.2	+	9	1168	c.1014G>C	c.(1012-1014)CAG>CAC	p.Q338H	EVI5L_uc010xjz.1_Missense_Mutation_p.Q338H|EVI5L_uc002mio.1_Missense_Mutation_p.Q69H	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	338						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCCCCCACCAGTTCGACAGCT	0.617		NaN									OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	7	161				
SLC7A9	11136	broad.mit.edu	37	19	33355033	33355033	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:33355033G>A	uc002ntv.3	-	4	564	c.447C>T	c.(445-447)ATC>ATT	p.I149I	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.I149I|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	149	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTTCACAACGATTTGAGGAG	0.597		NaN											0	0	0	0.00308	0	4	52				
USF2	7392	broad.mit.edu	37	19	35769607	35769607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:35769607G>A	uc002nyq.1	+	8	843	c.734G>A	c.(733-735)CGG>CAG	p.R245Q	USF2_uc010xss.1_Missense_Mutation_p.R245Q|USF2_uc002nyr.1_Missense_Mutation_p.R178Q|USF2_uc002nys.1_Missense_Mutation_p.R47Q|USF2_uc002nyt.1_Missense_Mutation_p.R114Q|USF2_uc002nyu.1_Missense_Mutation_p.R47Q|USF2_uc002nyv.1_Missense_Mutation_p.R47Q	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	245	Poly-Arg.|Basic motif.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGTGGAGCGGAGGCGGAGG	0.597		NaN											0	0	0	0.012213	0	29	162				
LGALS7B	653499	broad.mit.edu	37	19	39281455	39281455	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:39281455G>A	uc002ojf.3	+	3	239	c.222G>A	c.(220-222)GAG>GAA	p.E74E		NM_001042507	NP_001035972	P47929	LEG7_HUMAN	galectin-7B	74	Galectin.|Beta-galactoside binding (Potential).				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0						GCCGCGAGGAGCGCGGGCCGG	0.677		NaN											0	0	0	0.014758	0	3	19				
CEACAM5	1048	broad.mit.edu	37	19	42224859	42224859	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:42224859A>T	uc002ork.2	+	8	1910	c.1789A>T	c.(1789-1791)ATC>TTC	p.I597F	CEACAM5_uc002orj.1_Missense_Mutation_p.I596F|CEACAM5_uc002orl.2_Missense_Mutation_p.I597F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	597	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGACACCCCCATCATTTCCCC	0.552		NaN											0	0	0	0.008361	0	27	157				
PSG1	5669	broad.mit.edu	37	19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	rs1058795		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372318A>G	uc002ovb.2	-	5	1316	c.1178T>C	c.(1177-1179)GTT>GCT	p.V393A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.V393A|PSG1_uc010eio.1_Missense_Mutation_p.V393A|PSG1_uc002oux.1_Missense_Mutation_p.V322A|PSG1_uc002ouy.1_Missense_Mutation_p.V300A|PSG1_uc002ouz.1_Missense_Mutation_p.V393A|PSG1_uc002ova.1_Missense_Mutation_p.V300A|PSG1_uc002ovc.2_Missense_Mutation_p.V300A|PSG1_uc002ovd.1_Missense_Mutation_p.V393A	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	393	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458		NaN											0	0	0	0.009535	0	28	258				
PSG1	5669	broad.mit.edu	37	19	43372335	43372335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:43372335C>A	uc002ovb.2	-	5	1299	c.1161G>T	c.(1159-1161)AAG>AAT	p.K387N	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.K387N|PSG1_uc010eio.1_Missense_Mutation_p.K387N|PSG1_uc002oux.1_Missense_Mutation_p.K316N|PSG1_uc002ouy.1_Missense_Mutation_p.K294N|PSG1_uc002ouz.1_Missense_Mutation_p.K387N|PSG1_uc002ova.1_Missense_Mutation_p.K294N|PSG1_uc002ovc.2_Missense_Mutation_p.K294N|PSG1_uc002ovd.1_Missense_Mutation_p.K387N	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	387	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GCCCGCTATGCTTTGTAGTAA	0.463		NaN											1	0	5.8336e-16	0.015359	6.64588e-16	31	254				
SLC17A7	57030	broad.mit.edu	37	19	49934671	49934671	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49934671G>C	uc002pnp.2	-	10	1357	c.1185C>G	c.(1183-1185)GTC>GTG	p.V395V	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	395	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCGAGTAGCCGACCACCAACA	0.577		NaN											0	0	0	0.006214	0	10	45				
ALDH16A1	126133	broad.mit.edu	37	19	49965942	49965942	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:49965942G>T	uc002pnt.2	+	8	1144	c.1028G>T	c.(1027-1029)GGG>GTG	p.G343V	ALDH16A1_uc010yar.1_Missense_Mutation_p.G292V|ALDH16A1_uc010yas.1_Missense_Mutation_p.G178V|ALDH16A1_uc010yat.1_Missense_Mutation_p.G180V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	343							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGGACATGGGGGCCCGGGGG	0.672		NaN											1	0	3.86212e-05	0.008291	4.15447e-05	9	40				
AP2A1	160	broad.mit.edu	37	19	50303343	50303343	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50303343G>A	uc002ppn.2	+	11	1602	c.1391G>A	c.(1390-1392)CGT>CAT	p.R464H	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Missense_Mutation_p.R464H|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	464					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGTGGTACCGTGTGCTACAG	0.592		NaN											0	0	0	0.014758	0	5	17				
ZNF473	25888	broad.mit.edu	37	19	50549435	50549435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:50549435C>G	uc002prn.2	+	5	1972	c.1735C>G	c.(1735-1737)CAG>GAG	p.Q579E	ZNF473_uc002prm.2_Missense_Mutation_p.Q579E|ZNF473_uc010ybo.1_Missense_Mutation_p.Q567E	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	579	C2H2-type 11.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ATACCTAACTCAGCACGAGAG	0.453		NaN											0	0	0	0.001984	0	7	44				
ZNF577	84765	broad.mit.edu	37	19	52376173	52376173	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52376173C>G	uc010yde.1	-	7	1461	c.1070G>C	c.(1069-1071)AGA>ACA	p.R357T	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.R298T|ZNF577_uc002pxv.2_Missense_Mutation_p.R350T|ZNF577_uc002pxw.2_Missense_Mutation_p.R291T	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	357	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATTCTCTGCATGAATA	0.428		NaN											0	0	0	0.009096	0	4	83				
ZNF836	162962	broad.mit.edu	37	19	52658463	52658463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:52658463G>A	uc010ydi.1	-	5	2847	c.2473C>T	c.(2473-2475)CAG>TAG	p.Q825*	ZNF836_uc010ydj.1_Nonsense_Mutation_p.Q825*	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	825	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCATTTTCTGATGATTAACC	0.398		NaN											0	0	0	0.00632	0	26	132				
ZNF761	388561	broad.mit.edu	37	19	53958025	53958025	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:53958025G>A	uc010eqp.2	+	7	722	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	ZNF761_uc010ydy.1_Silent_p.Q34Q|ZNF761_uc002qbt.1_Silent_p.Q34Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TTTGCTACCAGGATGTTGATA	0.388		NaN											0	0	0	0.016723	0	14	53				
ISOC2	79763	broad.mit.edu	37	19	55967807	55967807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr19:55967807G>C	uc002qlb.2	-	2	221	c.47C>G	c.(46-48)TCT>TGT	p.S16C	ISOC2_uc002qla.2_Missense_Mutation_p.S16C|ISOC2_uc002qlc.2_Missense_Mutation_p.S16C	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	16					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GAACAGGACAGAGGATCCTGG	0.617		NaN											0	0	0	0.008291	0	10	80				
MYT1L	23040	broad.mit.edu	37	2	1812936	1812936	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:1812936C>A	uc002qxe.2	-	22	3911	c.3084G>T	c.(3082-3084)TTG>TTT	p.L1028F	MYT1L_uc002qxd.2_Missense_Mutation_p.L1026F|MYT1L_uc010ewk.2_Missense_Mutation_p.L24F	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1028	C2HC-type 6.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCATCCTGACAAGCTGTGGA	0.542		NaN											1	0	2.74318e-10	0.006214	3.07327e-10	8	79				
ROCK2	9475	broad.mit.edu	37	2	11348013	11348013	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:11348013T>C	uc002rbd.1	-	20	2837	c.2388A>G	c.(2386-2388)ATA>ATG	p.I796M		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	796	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTCTTGCTCTATTTTTAATG	0.308		NaN											0	0	0	0.001168	0	5	78				
OTOF	9381	broad.mit.edu	37	2	26750716	26750716	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:26750716T>C	uc002rhk.2	-	3	338	c.211A>G	c.(211-213)AAA>GAA	p.K71E		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	71	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGACTTTGCTGTAGTTG	0.582		NaN											0	0	0	0.00308	0	7	64				
RBKS	64080	broad.mit.edu	37	2	28081337	28081337	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:28081337C>T	uc002rlo.1	-	2	202	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.R64Q	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	64					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGCTCCAAGCCGAGCAGCTTG	0.438		NaN											0	0	0	0.009096	0	4	45				
STRN	6801	broad.mit.edu	37	2	37105140	37105140	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:37105140C>G	uc002rpn.2	-	10	1226	c.1217G>C	c.(1216-1218)GGA>GCA	p.G406A	STRN_uc010ezx.2_Missense_Mutation_p.G369A	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	406					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAATGACTTTCCAGAAGAAGG	0.438		NaN											0	0	0	0.013537	0	13	163				
ADRA2B	151	broad.mit.edu	37	2	96781355	96781355	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:96781355G>A	uc002svi.2	-	1	534	c.534C>T	c.(532-534)ATC>ATT	p.I178I		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	178	Helical; Name=5; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGAAAGATCCGATGCTGGAGG	0.637		NaN											0	0	0	0.004672	0	3	32				
GYPC	2995	broad.mit.edu	37	2	127447889	127447889	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:127447889T>A	uc002tnq.2	+	2	262	c.106_splice	c.e2+2	p.E36_splice	GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_Splice_Site	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1							cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCATTGCAGGTGAGTTCTCAT	0.527		NaN											0	0	0	0.004672	0	3	41				
LRP1B	53353	broad.mit.edu	37	2	141215109	141215109	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:141215109G>T	uc002tvj.1	-	61	10709	c.9737C>A	c.(9736-9738)GCA>GAA	p.A3246E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3246	Extracellular (Potential).|LDL-receptor class B 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTCTGTCTGCTCCCGATGT	0.423		NaN								TSP Lung(27;0.18)			1	0	2.17888e-05	0.006214	2.35319e-05	10	74				
RIF1	55183	broad.mit.edu	37	2	152321463	152321463	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152321463C>T	uc002txm.2	+	30	5559	c.5429C>T	c.(5428-5430)TCA>TTA	p.S1810L	RIF1_uc002txl.2_Missense_Mutation_p.S1810L|RIF1_uc002txn.2_Missense_Mutation_p.S1810L|RIF1_uc002txo.2_Missense_Mutation_p.S1810L|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1810					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTAATGATTCATTAATTGTT	0.303		NaN											0	0	0	0.004482	0	8	49				
NEB	4703	broad.mit.edu	37	2	152484043	152484043	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:152484043C>G	uc010fnx.2	-	65	9599	c.9408G>C	c.(9406-9408)CAG>CAC	p.Q3136H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3136	Nebulin 85.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.473		NaN											0	0	0	0.006214	0	8	138				
RAPGEF4	11069	broad.mit.edu	37	2	173879313	173879313	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:173879313G>A	uc002uhv.3	+	18	1967	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	RAPGEF4_uc002uhw.3_Missense_Mutation_p.E450K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	594	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTCCTGCAAGAGGATGACGT	0.502		NaN											0	0	0	0.014758	0	4	30				
ZAK	51776	broad.mit.edu	37	2	174047626	174047626	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:174047626A>G	uc002uhz.2	+	4	492	c.292A>G	c.(292-294)AGA>GGA	p.R98G	ZAK_uc002uhx.2_Missense_Mutation_p.R98G|ZAK_uc002uhy.2_Missense_Mutation_p.R98G|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.R98G	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	98	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			TAACAGTAACAGAAGTGAGGA	0.323		NaN											0	0	0	0.001984	0	6	33				
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:179440352A>C	uc010zfg.1	-	275	63027	c.62803T>G	c.(62803-62805)TGT>GGT	p.C20935G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21862							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438		NaN											0	0	0	0.017118	0	10	83				
COL5A2	1290	broad.mit.edu	37	2	189931119	189931119	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:189931119T>C	uc002uqk.2	-	23	1835	c.1560A>G	c.(1558-1560)GAA>GAG	p.E520E	COL5A2_uc010frx.2_Silent_p.E96E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	520					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATTTACCCTTTCTCCCACTG	0.453		NaN											0	0	0	0.010729	0	11	177				
TMEFF2	23671	broad.mit.edu	37	2	192818461	192818461	+	Silent	SNP	A	A	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:192818461A>T	uc002utc.2	-	9	1366	c.972T>A	c.(970-972)GCT>GCA	p.A324A		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	324	Helical; (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTCCAATCACAGCTGCGATTA	0.433		NaN											0	0	0	0.008291	0	9	46				
FN1	2335	broad.mit.edu	37	2	216259329	216259329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:216259329C>T	uc002vfa.2	-	24	3984	c.3718G>A	c.(3718-3720)GGC>AGC	p.G1240S	FN1_uc002vfb.2_Missense_Mutation_p.G1240S|FN1_uc002vfc.2_Missense_Mutation_p.G1240S|FN1_uc002vfd.2_Missense_Mutation_p.G1240S|FN1_uc002vfe.2_Missense_Mutation_p.G1240S|FN1_uc002vff.2_Missense_Mutation_p.G1240S|FN1_uc002vfg.2_Missense_Mutation_p.G1240S|FN1_uc002vfh.2_Missense_Mutation_p.G1240S|FN1_uc002vfi.2_Missense_Mutation_p.G1240S|FN1_uc002vfj.2_Missense_Mutation_p.G1240S|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1240	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACTCCAGGCCGGGACTCAGG	0.453		NaN											0	0	0	0.004482	0	7	145				
B3GNT7	93010	broad.mit.edu	37	2	232263313	232263313	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:232263313C>T	uc002vrs.2	+	2	1063	c.883C>T	c.(883-885)CCG>TCG	p.P295S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	295	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCAGCTATCCGCCGTATGC	0.647		NaN											0	0	0	0.009096	0	4	25				
INPP5D	3635	broad.mit.edu	37	2	234098579	234098579	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:234098579C>T	uc010zmo.1	+	21	2595	c.2442C>T	c.(2440-2442)TCC>TCT	p.S814S	INPP5D_uc010zmp.1_Silent_p.S813S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	814					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACGAATCCTATGGTAAGG	0.567		NaN											0	0	0	0.014758	0	5	45				
MTERFD2	130916	broad.mit.edu	37	2	242035456	242035456	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr2:242035456G>A	uc002wan.1	-	3	1683	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	MTERFD2_uc010zoj.1_Missense_Mutation_p.A180V	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	368										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		attgtcctccgcctcgtcgtc	0.194		NaN											0	0	0	0.014758	0	5	64				
C20orf26	26074	broad.mit.edu	37	20	20144789	20144789	+	Silent	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:20144789C>A	uc002wru.2	+	11	1198	c.1122C>A	c.(1120-1122)CCC>CCA	p.P374P	C20orf26_uc010gcw.1_Silent_p.P328P|C20orf26_uc010zse.1_Silent_p.P374P|C20orf26_uc010zsf.1_Silent_p.P374P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	374										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CTGAAGAGCCCGTCCACTTCC	0.478		NaN											1	0	7.48243e-07	0.006214	8.24594e-07	9	88				
XRN2	22803	broad.mit.edu	37	20	21312985	21312985	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:21312985C>G	uc002wsf.1	+	9	860	c.765C>G	c.(763-765)TTC>TTG	p.F255L	XRN2_uc002wsg.1_Missense_Mutation_p.F179L|XRN2_uc010zsk.1_Missense_Mutation_p.F201L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	255					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GAGAAGAATTCAAACCAAACA	0.388		NaN											0	0	0	0.001168	0	6	48				
RUNX1	861	broad.mit.edu	37	21	36421143	36421143	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:36421143C>G	uc010gmu.2	-	2	198	c.54G>C	c.(52-54)ATG>ATC	p.M18I	RUNX1_uc002yut.1_RNA|RUNX1_uc010gmv.2_Missense_Mutation_p.M18I|RUNX1_uc002yuj.3_5'UTR|RUNX1_uc002yuk.3_Missense_Mutation_p.M18I|RUNX1_uc002yum.1_5'UTR|RUNX1_uc010gmw.1_Missense_Mutation_p.M18I	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	Error:Variant_position_missing_in_Q01196_after_alignment					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						ACTCACCTCTCATGAAGCACT	0.483		NaN	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				0	0	0	0.001984	0	6	172				
WDR4	10785	broad.mit.edu	37	21	44272389	44272389	+	Missense_Mutation	SNP	G	G	A	rs147294240	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44272389G>A	uc002zci.2	-	10	1094	c.1021C>T	c.(1021-1023)CGT>TGT	p.R341C	WDR4_uc002zck.1_Missense_Mutation_p.R341C|WDR4_uc002zcl.1_Missense_Mutation_p.R195C|WDR4_uc010gpg.1_Missense_Mutation_p.R340C|WDR4_uc011aew.1_Missense_Mutation_p.R195C|WDR4_uc010gph.1_Missense_Mutation_p.R195C	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	341					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CAGTTCCCACGAAGAACACCA	0.567		NaN											0	0	0	0.014758	0	4	24				
WDR4	10785	broad.mit.edu	37	21	44274683	44274683	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:44274683G>C	uc002zci.2	-	8	853	c.780C>G	c.(778-780)CTC>CTG	p.L260L	WDR4_uc002zck.1_Silent_p.L260L|WDR4_uc002zcl.1_Silent_p.L114L|WDR4_uc010gpg.1_Silent_p.L259L|WDR4_uc011aew.1_Silent_p.L114L|WDR4_uc010gph.1_Silent_p.L114L	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	260					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CGTCGCACAGGAGCGCCACGC	0.612		NaN											0	0	0	0.009096	0	3	25				
MCM3AP	8888	broad.mit.edu	37	21	47678906	47678906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr21:47678906C>G	uc002zir.1	-	16	3717	c.3681G>C	c.(3679-3681)CAG>CAC	p.Q1227H	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Missense_Mutation_p.Q154H	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1227					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCTTTGCAGTCTGGAAGATTT	0.537		NaN											0	0	0	0.001168	0	5	81				
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:20458068G>A	uc002zsd.3	-	1	3719	c.3234C>T	c.(3232-3234)TTC>TTT	p.F1078F		NM_015672	NP_056487			RIMS binding protein 3												0	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662		NaN											0	0	0	0.009096	0	4	35				
THAP7	80764	broad.mit.edu	37	22	21354354	21354354	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:21354354C>G	uc002ztr.1	-	5	775	c.745G>C	c.(745-747)GAT>CAT	p.D249H	THAP7_uc002zts.1_Missense_Mutation_p.D249H|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	249					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding				0	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAAGGGCATCAAGGGCTGCC	0.682		NaN											0	0	0	0.006214	0	10	33				
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:34046621G>A	uc003and.3	-	4	719	c.140C>T	c.(139-141)TCC>TTC	p.S47F	LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	47	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GTGTGCCTGGGACTCCAGCGG	0.647		NaN											0	0	0	0.004672	0	3	34				
EFCAB6	64800	broad.mit.edu	37	22	44068181	44068181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr22:44068181C>G	uc003bdy.1	-	14	1639	c.1424G>C	c.(1423-1425)AGA>ACA	p.R475T	EFCAB6_uc003bdz.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzi.1_Missense_Mutation_p.R323T|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGATGTCTTTCTCATCTAATT	0.294		NaN											0	0	0	0.009096	0	4	34				
CADPS	8618	broad.mit.edu	37	3	62484936	62484936	+	Silent	SNP	T	T	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:62484936T>C	uc003dll.2	-	18	2967	c.2607A>G	c.(2605-2607)GTA>GTG	p.V869V	CADPS_uc003dlk.1_Silent_p.V373V|CADPS_uc003dlm.2_Silent_p.V886V|CADPS_uc003dln.2_Silent_p.V846V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	869	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTAACCGGCCTACATTTTCTG	0.398		NaN											0	0	0	0.014758	0	4	28				
ROBO2	6092	broad.mit.edu	37	3	77645844	77645844	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:77645844T>A	uc003dpy.3	+	19	3440	c.2797T>A	c.(2797-2799)TTG>ATG	p.L933M	ROBO2_uc003dpz.2_Missense_Mutation_p.L937M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L937M|ROBO2_uc003dqa.2_Missense_Mutation_p.L60M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	933	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCACGAGCTTGCCAGTAAA	0.428		NaN											0	0	0	0.006214	0	8	87				
MYH15	22989	broad.mit.edu	37	3	108133162	108133162	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:108133162G>C	uc003dxa.1	-	31	4179	c.4122C>G	c.(4120-4122)TCC>TCG	p.S1374S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1374	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CATTGACTTTGGATAAGGTCC	0.498		NaN											0	0	0	0.006214	0	8	31				
TRH	7200	broad.mit.edu	37	3	129695896	129695896	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:129695896G>T	uc003enc.2	+	3	1127	c.566G>T	c.(565-567)GGC>GTC	p.G189V		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	189					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						CAGCATCCGGGCAAGAGGGCC	0.527		NaN											1	0	1.58986e-06	0.008291	1.74497e-06	10	41				
C3orf58	205428	broad.mit.edu	37	3	143691456	143691456	+	Silent	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr3:143691456G>C	uc003evo.2	+	1	817	c.282G>C	c.(280-282)GCG>GCC	p.A94A	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	94						COPI vesicle coat|extracellular region				ovary(1)	1						TGTACTTCGCGCAGTACGGCG	0.692		NaN											0	0	0	0.001168	0	6	52				
PIGG	54872	broad.mit.edu	37	4	524484	524484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:524484G>C	uc003gak.3	+	11	2657	c.2521G>C	c.(2521-2523)GAG>CAG	p.E841Q	PIGG_uc003gaj.3_Missense_Mutation_p.E833Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.E708Q|PIGG_uc003gal.3_Missense_Mutation_p.E752Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	841					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CGATGCAGCTGAGATTACTGT	0.378		NaN											0	0	0	0.001984	0	7	172				
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:6843914C>T	uc003gjr.3	+	4	815	c.352C>T	c.(352-354)CGA>TGA	p.R118*	KIAA0232_uc003gjq.3_Nonsense_Mutation_p.R118*	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	118							ATP binding			ovary(2)	2						CCAGTGTCTTCGATCTGCTTC	0.348		NaN											0	0	0	0.009096	0	4	67				
CPZ	8532	broad.mit.edu	37	4	8616129	8616129	+	Silent	SNP	C	C	T	rs139712717	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:8616129C>T	uc003glm.2	+	9	1533	c.1407C>T	c.(1405-1407)ATC>ATT	p.I469I	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.I332I|CPZ_uc003glo.2_Silent_p.I458I|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	469					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						GCTTTGAGATCACGGTAGAGC	0.582		NaN											0	0	0	0.014758	0	5	62				
LRRC66	339977	broad.mit.edu	37	4	52861074	52861074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:52861074G>A	uc003gzi.2	-	4	2127	c.2114C>T	c.(2113-2115)TCT>TTT	p.S705F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	705						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CCCCTCATCAGAGTCACAGTC	0.527		NaN											0	0	0	0.014758	0	4	76				
PDGFRA	5156	broad.mit.edu	37	4	54280809	54280809	+	Silent	SNP	A	A	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:54280809A>C	uc003haa.2	+	11	1029	c.843A>C	c.(841-843)ACA>ACC	p.T281T	FIP1L1_uc003gzx.3_Silent_p.T266T|FIP1L1_uc011bzt.1_Intron|FIP1L1_uc003gzy.2_Silent_p.T281T|FIP1L1_uc011bzu.1_Silent_p.T266T|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Silent_p.T246T|FIP1L1_uc003hac.2_Intron|FIP1L1_uc010ign.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGTCTCAGACAAGTACTGCCT	0.403		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00308	0	6	24				
KDR	3791	broad.mit.edu	37	4	55948801	55948801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:55948801G>A	uc003has.2	-	28	3966	c.3664C>T	c.(3664-3666)CAG>TAG	p.Q1222*	KDR_uc003hat.1_Nonsense_Mutation_p.Q1222*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1222	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGATACTGACTGCAAAAG	0.373		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.00308	0	7	54				
SLC4A4	8671	broad.mit.edu	37	4	72215710	72215710	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:72215710T>G	uc003hfy.2	+	5	588	c.471T>G	c.(469-471)AGT>AGG	p.S157R	SLC4A4_uc010iic.2_Missense_Mutation_p.S157R|SLC4A4_uc010iib.2_Missense_Mutation_p.S157R|SLC4A4_uc003hfz.2_Missense_Mutation_p.S157R|SLC4A4_uc003hgc.3_Missense_Mutation_p.S113R|SLC4A4_uc003hga.2_Missense_Mutation_p.S35R|SLC4A4_uc003hgb.3_Missense_Mutation_p.S113R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	157	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCCTTCATAGTTTATTTGAGC	0.453		NaN											0	0	0	0.001168	0	6	82				
ANXA5	308	broad.mit.edu	37	4	122591161	122591161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr4:122591161G>C	uc003idu.3	-	10	798	c.728C>G	c.(727-729)TCT>TGT	p.S243C	ANXA5_uc003idv.3_Missense_Mutation_p.S243C|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.S243C|ANXA5_uc010inn.2_Missense_Mutation_p.S183C|ANXA5_uc010ino.2_Missense_Mutation_p.S143C	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	243					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						ACTTCGAATAGATTTCACTAA	0.333		NaN											0	0	0	0.006214	0	8	51				
ADAMTS16	170690	broad.mit.edu	37	5	5186206	5186206	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:5186206G>A	uc003jdl.2	+	5	943	c.805G>A	c.(805-807)GAT>AAT	p.D269N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.D269N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.D269N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	269					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CATCTTGCCAGATGAGTATAA	0.498		NaN											0	0	0	0.01441	0	61	166				
MTRR	4552	broad.mit.edu	37	5	7895909	7895909	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:7895909C>T	uc003jed.2	+	12	1731	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	MTRR_uc003jee.3_Silent_p.I540I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	567					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAATCCCCATCATAATGGTGG	0.398		NaN											0	0	0	0.01441	0	52	110				
MTMR12	54545	broad.mit.edu	37	5	32229905	32229905	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32229905G>A	uc003jhq.2	-	16	2393	c.2223C>T	c.(2221-2223)TTC>TTT	p.F741F	MTMR12_uc010iuk.2_Silent_p.F687F|MTMR12_uc010iul.2_Silent_p.F631F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	741						cytoplasm	phosphatase activity			ovary(1)	1						CTAGGTCCACGAACTCATCTT	0.512		NaN											0	0	0	0.007413	0	18	51				
MTMR12	54545	broad.mit.edu	37	5	32230145	32230145	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:32230145C>T	uc003jhq.2	-	16	2153	c.1983G>A	c.(1981-1983)CTG>CTA	p.L661L	MTMR12_uc010iuk.2_Silent_p.L607L|MTMR12_uc010iul.2_Silent_p.L551L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	661						cytoplasm	phosphatase activity			ovary(1)	1						AGAGTTTGCTCAGAGTGGCCA	0.572		NaN											0	0	0	0.008291	0	9	184				
FBXO4	26272	broad.mit.edu	37	5	41929974	41929974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:41929974G>A	uc003jmq.2	+	3	657	c.601G>A	c.(601-603)GAG>AAG	p.E201K	FBXO4_uc003jmp.2_Missense_Mutation_p.E201K|FBXO4_uc003jmr.2_Missense_Mutation_p.E201K	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	201					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GATGTCTTCAGAGGAACTTTG	0.398		NaN											0	0	0	0.01441	0	56	170				
CCNH	902	broad.mit.edu	37	5	86700789	86700789	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:86700789C>G	uc003kjb.2	-	5	793	c.561G>C	c.(559-561)TTG>TTC	p.L187F	CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.L134F|CCNH_uc003kja.2_Missense_Mutation_p.L134F	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	187					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CTGTTTTCCTCAAAATCTCTG	0.373		NaN						Direct_reversal_of_damage|NER					0	0	0	0.00308	0	5	63				
GPR98	84059	broad.mit.edu	37	5	90106693	90106693	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:90106693G>A	uc003kju.2	+	74	15712	c.15616G>A	c.(15616-15618)GAT>AAT	p.D5206N	GPR98_uc003kjt.2_Missense_Mutation_p.D2912N|GPR98_uc003kjw.2_Missense_Mutation_p.D867N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5206	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAGCCTGATGTGGCCAC	0.463		NaN											0	0	0	0.001168	0	5	50				
FER	2241	broad.mit.edu	37	5	108516587	108516587	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:108516587G>A	uc003kop.1	+	18	2572	c.2188G>A	c.(2188-2190)GAA>AAA	p.E730K	FER_uc011cvg.1_Missense_Mutation_p.E555K	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	730	Protein kinase.			E -> G (in Ref. 2; BAG61714).	intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACAGCACCGGAAGCTCTTAA	0.373		NaN											0	0	0	0.008291	0	10	52				
WDR36	134430	broad.mit.edu	37	5	110462533	110462533	+	Silent	SNP	C	C	T	rs79307023		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:110462533C>T	uc003kpd.2	+	23	2925	c.2808C>T	c.(2806-2808)TTC>TTT	p.F936F	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	936					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AATCACTCTTCAATCAAAGCA	0.323		NaN											0	0	0	0.014758	0	5	35				
RAD50	10111	broad.mit.edu	37	5	131931309	131931309	+	Nonsense_Mutation	SNP	C	C	T	rs142947311		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:131931309C>T	uc003kxi.2	+	13	2401	c.2014C>T	c.(2014-2016)CAG>TAG	p.Q672*	RAD50_uc003kxh.2_Nonsense_Mutation_p.Q533*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	672	Zinc-hook.|Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCATTACTCAGCTAACAGA	0.383		NaN						Homologous_recombination					0	0	0	0.014758	0	5	46				
SEC24A	10802	broad.mit.edu	37	5	134007548	134007548	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:134007548C>T	uc003kzs.2	+	4	1077	c.789C>T	c.(787-789)TAC>TAT	p.Y263Y	SEC24A_uc011cxu.1_Missense_Mutation_p.T31M	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	263					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGTAGTTACGACGAGATTG	0.313		NaN											0	0	0	0.008291	0	7	46				
PCDHA2	56146	broad.mit.edu	37	5	140175779	140175779	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140175779C>A	uc003lhd.2	+	1	1336	c.1230C>A	c.(1228-1230)GAC>GAA	p.D410E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D410E|PCDHA2_uc011czy.1_Missense_Mutation_p.D410E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	410	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGGACAGCGCCCTGG	0.622		NaN											1	0	5.03518e-11	0.007413	5.68828e-11	18	147				
PCDHB5	26167	broad.mit.edu	37	5	140515575	140515575	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:140515575G>C	uc003liq.2	+	1	776	c.559G>C	c.(559-561)GAT>CAT	p.D187H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	187	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATCGCGGAGATGGCAGAAA	0.517		NaN											0	0	0	0.00308	0	8	59				
HDAC3	8841	broad.mit.edu	37	5	141008783	141008783	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:141008783C>T	uc003llf.2	-	7	633	c.567G>A	c.(565-567)ACG>ACA	p.T189T	HDAC3_uc003lle.1_Silent_p.T132T|HDAC3_uc010jgd.1_Silent_p.T114T|HDAC3_uc010jge.1_RNA	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	189	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGAAGGACACCGTCATGACCC	0.443		NaN											0	0	0	0.009096	0	4	43				
GRIA1	2890	broad.mit.edu	37	5	153144153	153144153	+	Nonsense_Mutation	SNP	C	C	A	rs149931571	byFrequency	TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr5:153144153C>A	uc003lva.3	+	12	2348	c.1983C>A	c.(1981-1983)TAC>TAA	p.Y661*	GRIA1_uc003luy.3_Nonsense_Mutation_p.Y661*|GRIA1_uc003luz.3_Nonsense_Mutation_p.Y566*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.Y581*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.Y592*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.Y671*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.Y671*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	661	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAATTGCCTACGGGACGCTGG	0.502		NaN											1	0	0.004672	0.004672	0.00487042	3	34				
HIVEP1	3096	broad.mit.edu	37	6	12163852	12163852	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12163852G>A	uc003nac.2	+	9	7494	c.7315G>A	c.(7315-7317)GGT>AGT	p.G2439S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2439					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGAACTTTGGGTACTCATAG	0.517		NaN											0	0	0	0.005443	0	27	72				
HIVEP1	3096	broad.mit.edu	37	6	12164328	12164328	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:12164328C>T	uc003nac.2	+	9	7970	c.7791C>T	c.(7789-7791)ACC>ACT	p.T2597T	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2597					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAGCAGGACCGAGTCTCCTC	0.542		NaN											0	0	0	0.004672	0	3	41				
ZKSCAN4	387032	broad.mit.edu	37	6	28219395	28219395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:28219395C>T	uc003nks.1	-	1	608	c.364G>A	c.(364-366)GAG>AAG	p.E122K	ZKSCAN4_uc011dlb.1_Intron	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACCACCTCCTCCCCGCTCTCT	0.592		NaN											0	0	0	0.014758	0	4	37				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.009096	0	3	25				
MDC1	9656	broad.mit.edu	37	6	30673284	30673284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:30673284G>C	uc003nrg.3	-	10	4116	c.3676C>G	c.(3676-3678)CAG>GAG	p.Q1226E	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q833E	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1226	Pro-rich.|Interaction with the PRKDC complex.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTAGTAGCCTGAGAGGTGGGT	0.572		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.01441	0	51	205				
CCHCR1	54535	broad.mit.edu	37	6	31122287	31122287	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31122287G>A	uc003nsr.3	-	4	643	c.520C>T	c.(520-522)CTG>TTG	p.L174L	CCHCR1_uc011dne.1_Silent_p.L174L|CCHCR1_uc003nsq.3_Silent_p.L227L|CCHCR1_uc003nsp.3_Silent_p.L263L|CCHCR1_uc010jsk.1_Silent_p.L174L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	174	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						TCTTGGTGCAGCCTCTGAACC	0.547		NaN											0	0	0	0.014323	0	22	474				
MICA	4276	broad.mit.edu	37	6	31378387	31378387	+	Silent	SNP	T	T	C	rs78945208		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:31378387T>C	uc003ntk.1	+	2	177	c.138T>C	c.(136-138)CTT>CTC	p.L46L	MICA_uc003rxz.1_5'UTR					RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;												0		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532		NaN											0	0	0	0.004672	0	3	51				
APOBEC2	10930	broad.mit.edu	37	6	41029212	41029212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:41029212G>A	uc003opl.2	+	2	424	c.277G>A	c.(277-279)GAG>AAG	p.E93K	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	93					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTAGAGGATGAGCATGCGGC	0.577		NaN											0	0	0	0.007413	0	20	82				
SUPT3H	8464	broad.mit.edu	37	6	44797554	44797554	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:44797554C>G	uc003oxo.2	-	13	1304	c.986G>C	c.(985-987)TGA>TCA	p.*329S	SUPT3H_uc003oxn.1_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvv.1_Nonstop_Mutation_p.*166S|SUPT3H_uc003oxp.2_Nonstop_Mutation_p.*318S|SUPT3H_uc011dvw.1_Nonstop_Mutation_p.*232S	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	329					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						GTTGTCACATCAGCAGGCTAG	0.368		NaN											0	0	0	0.006122	0	17	120				
ASCC3	10973	broad.mit.edu	37	6	101110370	101110370	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:101110370C>G	uc003pqk.2	-	15	2658	c.2329G>C	c.(2329-2331)GAT>CAT	p.D777H	ASCC3_uc011eai.1_Missense_Mutation_p.D679H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	777	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTAAAACCATCTGGGAATAAT	0.358		NaN											0	0	0	0.009096	0	4	35				
LAMA2	3908	broad.mit.edu	37	6	129674484	129674484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:129674484G>C	uc003qbn.2	+	32	4804	c.4699G>C	c.(4699-4701)GAG>CAG	p.E1567Q	LAMA2_uc003qbo.2_Missense_Mutation_p.E1567Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1567	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATGCACGCGAGGGCTGGGA	0.537		NaN											0	0	0	0.009096	0	4	64				
SNX9	51429	broad.mit.edu	37	6	158296183	158296183	+	Missense_Mutation	SNP	C	C	T	rs140767756		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:158296183C>T	uc003qqv.1	+	4	448	c.275C>T	c.(274-276)TCG>TTG	p.S92L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	92					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAGGCCAGTTCGTCGGCTGCC	0.488		NaN											0	0	0	0.001984	0	6	56				
MAP3K4	4216	broad.mit.edu	37	6	161455436	161455436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:161455436C>T	uc003qtn.2	+	2	440	c.298C>T	c.(298-300)CAG>TAG	p.Q100*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q100*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.Q100*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	100					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACCAAACATCAGAGGAATAA	0.448		NaN											0	0	0	0.014758	0	5	44				
DLL1	28514	broad.mit.edu	37	6	170592161	170592161	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr6:170592161G>A	uc003qxm.2	-	10	2551	c.2081C>T	c.(2080-2082)TCG>TTG	p.S694L		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	694	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGAACAGCCCGAGTCCGGCCT	0.468		NaN											0	0	0	0.012319	0	19	123				
C7orf28A	51622	broad.mit.edu	37	7	5944726	5944726	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:5944726A>G	uc003spf.2	+	7	614	c.524A>G	c.(523-525)TAT>TGT	p.Y175C		NM_015622	NP_056437	P86791	CCZ1_HUMAN	hypothetical protein LOC51622	175						lysosomal membrane					0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)		TTCCCACAGTATTTGCAAACG	0.333		NaN											0	0	0	0.008291	0	11	92				
EEPD1	80820	broad.mit.edu	37	7	36194706	36194706	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:36194706G>T	uc003tfa.2	+	2	1413	c.773G>T	c.(772-774)AGG>ATG	p.R258M		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	258					DNA repair		DNA binding				0						AGGGATGGGAGGCCTGTGCTG	0.647		NaN											1	0	0.00621372	0.006214	0.00645271	8	23				
PKD1L1	168507	broad.mit.edu	37	7	47924229	47924229	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:47924229G>C	uc003tny.1	-	19	3232	c.3232C>G	c.(3232-3234)CAA>GAA	p.Q1078E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1078	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ATTGCTTCTTGAATGTCACTG	0.448		NaN											0	0	0	0.00308	0	7	34				
BAZ1B	9031	broad.mit.edu	37	7	72856883	72856883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:72856883C>G	uc003tyc.2	-	19	4440	c.4095G>C	c.(4093-4095)AGG>AGC	p.R1365S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1365	Bromo.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGCTCCCTGTGGAGAA	0.552		NaN											0	0	0	0.00308	0	8	63				
CYP3A5	1577	broad.mit.edu	37	7	99264653	99264653	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:99264653G>A	uc003urq.2	-	5	441	c.354C>T	c.(352-354)ATC>ATT	p.I118I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Silent_p.I5I|CYP3A5_uc011kiy.1_Silent_p.I108I|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	118					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	CAGCTAAAGAGATGGCACTTT	0.398		NaN											0	0	0	0.001984	0	6	45				
MUC17	140453	broad.mit.edu	37	7	100682288	100682288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:100682288G>C	uc003uxp.1	+	3	7644	c.7591G>C	c.(7591-7593)GAG>CAG	p.E2531Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2531	Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTCCTGAGGCTAGCAC	0.478		NaN											0	0	0	0.01441	0	47	341				
POT1	25913	broad.mit.edu	37	7	124503417	124503417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:124503417G>A	uc003vlm.2	-	8	1134	c.533C>T	c.(532-534)TCA>TTA	p.S178L	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S47L|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	178					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						TAGAAGAAATGATGCTCCGTC	0.378		NaN											0	0	0	0.001984	0	6	63				
LRRC4	64101	broad.mit.edu	37	7	127669984	127669984	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:127669984G>C	uc003vmk.2	-	2	847	c.710C>G	c.(709-711)TCC>TGC	p.S237C	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	237	LRR 7.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCCATGGAAGGAGCCAGGCCT	0.562		NaN											0	0	0	0.004482	0	9	42				
TNPO3	23534	broad.mit.edu	37	7	128641272	128641272	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:128641272G>A	uc003vol.1	-	6	1087	c.713C>T	c.(712-714)TCG>TTG	p.S238L	TNPO3_uc003vom.1_Missense_Mutation_p.S172L|TNPO3_uc010lly.1_Missense_Mutation_p.S238L|TNPO3_uc010llz.1_Missense_Mutation_p.S238L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	238					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TAGGTTAGACGAGGTCTTATC	0.478		NaN											0	0	0	0.016723	0	12	106				
SVOPL	136306	broad.mit.edu	37	7	138312990	138312990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:138312990C>T	uc011kqh.1	-	10	982	c.982G>A	c.(982-984)GGG>AGG	p.G328R	SVOPL_uc003vue.2_Missense_Mutation_p.G176R	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	328						integral to membrane	transmembrane transporter activity				0						TGGCTCTCCCCTGAGTCCCCC	0.567		NaN											0	0	0	0.001168	0	6	49				
EPHB6	2051	broad.mit.edu	37	7	142567711	142567711	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:142567711G>A	uc011kst.1	+	17	3386	c.2599G>A	c.(2599-2601)GAG>AAG	p.E867K	EPHB6_uc011ksu.1_Missense_Mutation_p.E867K|EPHB6_uc003wbs.2_Missense_Mutation_p.E575K|EPHB6_uc003wbt.2_Missense_Mutation_p.E341K|EPHB6_uc003wbu.2_Missense_Mutation_p.E575K|EPHB6_uc003wbv.2_Missense_Mutation_p.E251K	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	867	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GGACATGAGTGAGCAGGAGGT	0.498		NaN											0	0	0	0.001168	0	6	33				
ABP1	26	broad.mit.edu	37	7	150558223	150558223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150558223C>G	uc003why.1	+	6	6400	c.2182C>G	c.(2182-2184)CGC>GGC	p.R728G	ABP1_uc003whz.1_Missense_Mutation_p.R728G|ABP1_uc003wia.1_Missense_Mutation_p.R747G	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	728					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTACGTCCAGCGCTGGATCCC	0.532		NaN											0	0	0	0.014758	0	5	32				
ASB10	136371	broad.mit.edu	37	7	150878047	150878047	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr7:150878047G>A	uc003wjm.1	-	3	1344	c.1218C>T	c.(1216-1218)GTC>GTT	p.V406V	ASB10_uc003wjl.1_Silent_p.V406V|ASB10_uc003wjn.1_Silent_p.V346V	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	361	ANK 7.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGGCCAGACACGGACGG	0.692		NaN											0	0	0	0.009096	0	4	12				
TEX15	56154	broad.mit.edu	37	8	30694583	30694583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:30694583G>C	uc003xil.2	-	3	8068	c.8068C>G	c.(8068-8070)CCT>GCT	p.P2690A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2690										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCCCAGAAGGAGATGGCTGT	0.453		NaN											0	0	0	0.004482	0	8	74				
ZNF704	619279	broad.mit.edu	37	8	81577165	81577165	+	Missense_Mutation	SNP	G	G	C	rs145837256		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:81577165G>C	uc003yby.1	-	6	1044	c.812C>G	c.(811-813)CCA>CGA	p.P271R		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	271						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCTTGAATCTGGGATGGGGAA	0.577		NaN											0	0	0	0.014758	0	5	100				
MMP16	4325	broad.mit.edu	37	8	89130948	89130948	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:89130948C>A	uc003yeb.3	-	5	1134	c.852G>T	c.(850-852)CAG>CAT	p.Q284H	MMP16_uc003yec.2_Missense_Mutation_p.Q284H	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	284	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TCTGGATGCCCTGTAAATCAT	0.403		NaN											1	0	0.000673444	0.008291	0.000713058	10	56				
STK3	6788	broad.mit.edu	37	8	99761532	99761532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:99761532G>C	uc003yip.2	-	4	464	c.323C>G	c.(322-324)TCA>TGA	p.S108*	STK3_uc003yio.2_Nonsense_Mutation_p.S136*|STK3_uc010mbm.1_Nonsense_Mutation_p.S108*	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	108	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AATTATGTCTGAGACAGAGCC	0.323		NaN											0	0	0	0.016723	0	11	61				
FAM135B	51059	broad.mit.edu	37	8	139268995	139268995	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr8:139268995T>A	uc003yuy.2	-	5	476	c.305A>T	c.(304-306)GAC>GTC	p.D102V	FAM135B_uc003yux.2_Missense_Mutation_p.D3V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	102										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCAGTGCGTCTTCCATCTG	0.403		NaN								HNSCC(54;0.14)			0	0	0	0.009096	0	4	17				
MPDZ	8777	broad.mit.edu	37	9	13147624	13147624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:13147624C>T	uc010mia.1	-	25	3721	c.3664G>A	c.(3664-3666)GAA>AAA	p.E1222K	MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Missense_Mutation_p.E114K|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.E1222K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1222K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1222K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1222K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1222	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAGCTTGTTCATGGCTTGCA	0.443		NaN											0	0	0	0.00308	0	8	62				
TOPORS	10210	broad.mit.edu	37	9	32544000	32544000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:32544000C>T	uc003zrb.2	-	3	690	c.523G>A	c.(523-525)GAT>AAT	p.D175N	TOPORS_uc003zrc.2_Missense_Mutation_p.D108N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	175	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCGTCGATCAGGGGTGACA	0.448		NaN											0	0	0	0.008291	0	11	63				
FANCC	2176	broad.mit.edu	37	9	97897680	97897680	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:97897680C>T	uc004avh.2	-	8	1053	c.791G>A	c.(790-792)AGT>AAT	p.S264N	FANCC_uc004avi.3_Missense_Mutation_p.S264N	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	264					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				ATTTCTCTCACTGGAGATTAG	0.433		NaN	D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.006214	0	10	40				
KIAA1529	57653	broad.mit.edu	37	9	100082448	100082448	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:100082448G>C	uc011lut.1	+	23	2442	c.1669G>C	c.(1669-1671)GAG>CAG	p.E557Q	KIAA1529_uc004axe.1_Missense_Mutation_p.E557Q|KIAA1529_uc004axg.1_Missense_Mutation_p.E418Q|KIAA1529_uc011lus.1_Missense_Mutation_p.E375Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E418Q|KIAA1529_uc011luv.1_Missense_Mutation_p.E415Q	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TCAGCTGACTGAGTGGCATTC	0.498		NaN											0	0	0	0.01441	0	44	157				
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:113194246A>G	uc010mtz.2	-	32	5639	c.5302T>C	c.(5302-5304)TAC>CAC	p.Y1768H	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAACATATGTAGGATCCATCT	0.378		NaN											0	0	0	0.009096	0	4	59				
SLC25A25	114789	broad.mit.edu	37	9	130868072	130868072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:130868072G>A	uc004bte.2	+	6	739	c.710G>A	c.(709-711)GGA>GAA	p.G237E	SLC25A25_uc004btb.2_Missense_Mutation_p.G271E|SLC25A25_uc004btc.2_Missense_Mutation_p.G257E|SLC25A25_uc004btd.2_Missense_Mutation_p.G269E|SLC25A25_uc004btf.2_Missense_Mutation_p.G134E	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	237	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						ATTCGAGAAGGAGGGGCCAGG	0.587		NaN											0	0	0	0.003163	0	15	75				
CARD9	64170	broad.mit.edu	37	9	139262242	139262242	+	Silent	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr9:139262242G>A	uc004chg.3	-	8	1282	c.1116C>T	c.(1114-1116)GCC>GCT	p.A372A	CARD9_uc011mdw.1_Silent_p.A372A|CARD9_uc011mdx.1_Silent_p.A268A	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	372	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCAGGCCCCGGGCGTGCTGTG	0.701		NaN											0	0	0	0.014758	0	5	21				
CXorf23	256643	broad.mit.edu	37	X	19973521	19973521	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:19973521G>A	uc004czp.2	-	4	1438	c.1438C>T	c.(1438-1440)CAT>TAT	p.H480Y	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.H45Y|CXorf23_uc004czo.2_Missense_Mutation_p.H430Y	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	480						mitochondrion				lung(1)|skin(1)	2						TTAACTTGATGGATTATTGTT	0.338		NaN											0	0	0	0.001984	0	6	50				
DCAF8L1	139425	broad.mit.edu	37	X	27998745	27998745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:27998745C>A	uc004dbx.1	-	1	822	c.707G>T	c.(706-708)AGT>ATT	p.S236I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	236										ovary(3)|skin(1)	4						ATCGTGACCACTCTCAAAGTT	0.517		NaN											1	0	2.74318e-10	0.006214	3.07327e-10	9	45				
TAB3	257397	broad.mit.edu	37	X	30870918	30870918	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:30870918T>A	uc004dcj.2	-	7	2350	c.1687A>T	c.(1687-1689)AGC>TGC	p.S563C	TAB3_uc004dck.2_Missense_Mutation_p.S563C|TAB3_uc010ngl.2_Missense_Mutation_p.S563C	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	563					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GTGGTGCAGCTGACTCTTCTG	0.458		NaN											0	0	0	0.014758	0	4	59				
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:39930940C>T	uc004den.3	-	5	3293	c.3001G>A	c.(3001-3003)GAA>AAA	p.E1001K	BCOR_uc004dep.3_Missense_Mutation_p.E1001K|BCOR_uc004deo.3_Intron|BCOR_uc004dem.3_Missense_Mutation_p.E1001K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1001					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGTAATCCTTCCATCTATGTA	0.303		NaN											0	0	0	0.004482	0	6	45				
HSD17B10	3028	broad.mit.edu	37	X	53459194	53459194	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:53459194C>T	uc004dsl.1	-	3	388	c.357_splice	c.e3+1	p.D119_splice	HSD17B10_uc004dsm.1_Splice_Site_p.D119_splice	NM_004493	NP_004484	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10						branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity				0					NADH(DB00157)	CAAGGCCTTACATCAAGAACT	0.502		NaN											0	0	0	0.014758	0	4	17				
FAM120C	54954	broad.mit.edu	37	X	54185903	54185903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:54185903C>G	uc004dsz.3	-	2	929	c.846G>C	c.(844-846)TGG>TGC	p.W282C	FAM120C_uc011moh.1_Missense_Mutation_p.W282C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	282										ovary(1)|central_nervous_system(1)	2						TCTTCCCATTCCAGCTCAGTT	0.488		NaN											0	0	0	0.009096	0	4	89				
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:69670626C>T	uc004dyi.1	+	6	1306	c.978C>T	c.(976-978)TAC>TAT	p.Y326Y	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532		NaN											0	0	0	0.014758	0	4	55				
TEX11	56159	broad.mit.edu	37	X	70080735	70080735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70080735G>A	uc004dyl.2	-	6	503	c.341C>T	c.(340-342)TCA>TTA	p.S114L	TEX11_uc004dym.2_Missense_Mutation_p.S99L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	114							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					ACTTTGTTCTGAGGCAAATGA	0.343		NaN											0	0	0	0.004672	0	3	24				
MED12	9968	broad.mit.edu	37	X	70346320	70346320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:70346320G>A	uc004dyy.2	+	19	2870	c.2671G>A	c.(2671-2673)GAC>AAC	p.D891N	MED12_uc011mpq.1_Missense_Mutation_p.D891N|MED12_uc004dyz.2_Missense_Mutation_p.D891N|MED12_uc004dza.2_Missense_Mutation_p.D738N	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	891					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGGCCTCATCGACTTTGCCAT	0.537		NaN											0	0	0	0.003163	0	11	136				
ATRX	546	broad.mit.edu	37	X	76937566	76937566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:76937566G>C	uc004ecp.3	-	9	3414	c.3182C>G	c.(3181-3183)TCT>TGT	p.S1061C	ATRX_uc004ecq.3_Missense_Mutation_p.S1023C|ATRX_uc004eco.3_Missense_Mutation_p.S846C|ATRX_uc004ecr.2_Missense_Mutation_p.S993C|ATRX_uc010nlx.1_Missense_Mutation_p.S1032C|ATRX_uc010nly.1_Missense_Mutation_p.S1006C	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1061					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AGCATAATCAGATAATTCATC	0.333		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.008871	0	21	158				
MORC4	79710	broad.mit.edu	37	X	106221416	106221416	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:106221416C>T	uc004emu.3	-	8	1193	c.950G>A	c.(949-951)AGA>AAA	p.R317K	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R317K|MORC4_uc004emw.3_Missense_Mutation_p.R65K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	317							ATP binding|zinc ion binding			ovary(1)	1						AAAGGTGATTCTCACCTGCTT	0.378		NaN											0	0	0	0.016723	0	14	83				
IRS4	8471	broad.mit.edu	37	X	107978480	107978480	+	Silent	SNP	C	C	G			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:107978480C>G	uc004eoc.2	-	1	1128	c.1095G>C	c.(1093-1095)CCG>CCC	p.P365P		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	365						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCGGCTCGAGCGGCACCAAGC	0.637		NaN											0	0	0	0.004007	0	16	156				
SAGE1	55511	broad.mit.edu	37	X	134993401	134993401	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:134993401C>A	uc004ezh.2	+	17	2223	c.2056C>A	c.(2056-2058)CAG>AAG	p.Q686K	SAGE1_uc010nry.1_Missense_Mutation_p.Q655K|SAGE1_uc011mvv.1_Missense_Mutation_p.Q310K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	686										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAATGGCCAACAGGCACCTGA	0.453		NaN											1	0	8.12818e-05	0.001984	8.70877e-05	6	78				
GPR50	9248	broad.mit.edu	37	X	150345317	150345317	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:150345317G>C	uc010ntg.1	+	1	259	c.124G>C	c.(124-126)GAC>CAC	p.D42H	uc004fes.1_RNA|GPR50_uc011myc.1_Missense_Mutation_p.D42H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	42	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGTTGTAGACCTAATCGG	0.507		NaN											0	0	0	0.010729	0	12	140				
TMLHE	55217	broad.mit.edu	37	X	154743794	154743794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chrX:154743794G>T	uc004fnn.2	-	4	657	c.491C>A	c.(490-492)TCG>TAG	p.S164*	TMLHE_uc004fno.2_Nonsense_Mutation_p.S164*|TMLHE_uc004fnp.3_Nonsense_Mutation_p.S164*	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	164					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCAATCTACCGATGGAACTTG	0.433		NaN											1	0	0.00198382	0.001984	0.00208417	6	109				
KLHL17	339451	broad.mit.edu	37	1	897016	897016	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:897016G>A	uc001aca.1	+	3	482	c.375G>A	c.(373-375)ATG>ATA	p.M125I	NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_Missense_Mutation_p.M1I|KLHL17_uc010nya.1_Missense_Mutation_p.M1I|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	125	BTB.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGATGAGATGAGCGAGAGCC	0.657		NaN											0	0	0	0.146539	0	16	5				
TMEM57	55219	broad.mit.edu	37	1	25810749	25810749	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:25810749G>A	uc001bkk.2	+	7	1499	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K	TMEM57_uc009vru.2_Missense_Mutation_p.E206K|TMEM57_uc009vrv.2_Missense_Mutation_p.E75K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	433						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGAACGAGCTGCTGCA	0.572		NaN											0	0	0	0.27861	0	7	47				
MANEAL	149175	broad.mit.edu	37	1	38265863	38265863	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38265863G>T	uc001cby.2	+	4	1443	c.1362G>T	c.(1360-1362)CAG>CAT	p.Q454H	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.Q232H	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	454	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAAGGAGCAGTGGCTCATGT	0.587		NaN											1	0	1.99824e-07	0.160694	2.11934e-07	16	122				
INPP5B	3633	broad.mit.edu	37	1	38332195	38332195	+	Silent	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38332195T>A	uc001ccg.1	-	21	2416	c.2322A>T	c.(2320-2322)CCA>CCT	p.P774P	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Silent_p.P610P	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	854	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTCAGGCCTGGTTGCTGAA	0.363		NaN											0	0	0	0.175082	0	16	118				
FOXE3	2301	broad.mit.edu	37	1	47882237	47882237	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:47882237C>G	uc001crk.2	+	1	494	c.250C>G	c.(250-252)CTG>GTG	p.L84V		NM_012186	NP_036318	Q13461	FOXE3_HUMAN	forkhead box E3	84	Fork-head.				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		CGCCATGGCTCTGGCGCACGC	0.512		NaN											0	0	0	0.307466	0	9	22				
ROR1	4919	broad.mit.edu	37	1	64605962	64605962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:64605962C>T	uc001dbj.2	+	6	1180	c.781C>T	c.(781-783)CAA>TAA	p.Q261*	ROR1_uc001dbi.3_Nonsense_Mutation_p.Q261*|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	261	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TGTCCTGTGTCAAACAGAGTA	0.498		NaN											0	0	0	0.323286	0	83	81				
MTF2	22823	broad.mit.edu	37	1	93602319	93602319	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:93602319G>C	uc009wdj.2	+	15	1809	c.1517G>C	c.(1516-1518)AGA>ACA	p.R506T	MTF2_uc010oth.1_Missense_Mutation_p.R404T|MTF2_uc009wdk.2_Missense_Mutation_p.R449T|MTF2_uc001dpi.3_Missense_Mutation_p.R233T|MTF2_uc010oti.1_Missense_Mutation_p.R404T|MTF2_uc001dpj.3_Missense_Mutation_p.R404T|MTF2_uc001dpl.3_Missense_Mutation_p.R404T|MTF2_uc001dpm.3_Missense_Mutation_p.R175T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	506						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTCCAAGAAGAGCACTCCAG	0.403		NaN											0	0	0	0.203993	0	33	59				
HIAT1	64645	broad.mit.edu	37	1	100534050	100534050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:100534050G>C	uc001dst.2	+	7	727	c.727G>C	c.(727-729)GAT>CAT	p.D243H		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	243	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGTCGGCCAAGATTCCATAGT	0.383		NaN											0	0	0	0.153744	0	28	66				
COL11A1	1301	broad.mit.edu	37	1	103431095	103431095	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:103431095C>T	uc001dul.2	-	38	3182	c.2864G>A	c.(2863-2865)GGA>GAA	p.G955E	COL11A1_uc001duk.2_Missense_Mutation_p.G151E|COL11A1_uc001dum.2_Missense_Mutation_p.G967E|COL11A1_uc001dun.2_Missense_Mutation_p.G916E|COL11A1_uc009weh.2_Missense_Mutation_p.G839E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	955	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGAAATCCCTAAGGAGG	0.388		NaN											0	0	0	0.323286	0	53	72				
PSRC1	84722	broad.mit.edu	37	1	109824459	109824459	+	Missense_Mutation	SNP	C	C	T	rs144416204		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:109824459C>T	uc001dxg.2	-	4	423	c.301G>A	c.(301-303)GAG>AAG	p.E101K	PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.E101K|PSRC1_uc001dxd.2_Missense_Mutation_p.E101K|PSRC1_uc001dxe.2_Missense_Mutation_p.E101K|PSRC1_uc001dxf.2_Missense_Mutation_p.E101K|PSRC1_uc001dxh.2_Missense_Mutation_p.E101K|PSRC1_uc001dxi.2_Missense_Mutation_p.E101K|PSRC1_uc001dxj.2_Missense_Mutation_p.E101K	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	101					cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCCAGGCCCTCGCCTGCGCTC	0.647		NaN											0	0	0	0.234183	0	19	23				
C1orf43	25912	broad.mit.edu	37	1	154180113	154180113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:154180113C>T	uc001fei.2	-	7	968	c.578G>A	c.(577-579)CGA>CAA	p.R193Q	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.R90Q|C1orf43_uc001feg.2_Missense_Mutation_p.R159Q|C1orf43_uc001feh.2_Missense_Mutation_p.R141Q|C1orf43_uc001fej.2_Missense_Mutation_p.R175Q|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	193						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCTCCCAATTCGTGCTTTAAC	0.507		NaN											0	0	0	0.294199	0	20	64				
RGS5	8490	broad.mit.edu	37	1	163131761	163131761	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:163131761G>C	uc001gcn.2	-	3	408	c.161C>G	c.(160-162)TCG>TGG	p.S54W	RGS5_uc009wvb.2_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	54					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			CTCGTCCAGCGAGGTTCTACA	0.428		NaN											0	0	0	0.307466	0	6	48				
POGK	57645	broad.mit.edu	37	1	166818581	166818581	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:166818581G>A	uc001gdt.1	+	5	885	c.765G>A	c.(763-765)AAG>AAA	p.K255K	POGK_uc010ple.1_Silent_p.K170K|POGK_uc010plf.1_Silent_p.K137K	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	255	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GAGGCCCCAAGAATGGGAGGT	0.567		NaN											0	0	0	0.173368	0	29	21				
POU2F1	5451	broad.mit.edu	37	1	167365643	167365643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:167365643G>C	uc001gec.2	+	11	1201	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.E345Q|POU2F1_uc001gee.2_Missense_Mutation_p.E347Q|POU2F1_uc010plh.1_Missense_Mutation_p.E284Q|POU2F1_uc001gef.2_Missense_Mutation_p.E359Q|POU2F1_uc001geg.2_Missense_Mutation_p.E245Q|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	347	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						GCCACTTTTAGAGAAGTGGCT	0.368		NaN											0	0	0	0.144211	0	26	78				
PRRX1	5396	broad.mit.edu	37	1	170688895	170688895	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688895G>T	uc001ghf.2	+	2	317	c.270G>T	c.(268-270)AAG>AAT	p.K90N	PRRX1_uc001ghe.2_Missense_Mutation_p.K90N	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGAAAAAAAGAAGAGAAAGC	0.433		NaN											1	0	5.18039e-06	0.27861	5.38556e-06	7	22				
PRRX1	5396	broad.mit.edu	37	1	170688965	170688965	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688965G>A	uc001ghf.2	+	2	387	c.340G>A	c.(340-342)GAG>AAG	p.E114K	PRRX1_uc001ghe.2_Missense_Mutation_p.E114K	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	114	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGTGTCTTTGAGCGGACACA	0.522		NaN											0	0	0	0.204396	0	15	65				
CEP350	9857	broad.mit.edu	37	1	179965793	179965793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:179965793G>A	uc001gnt.2	+	6	884	c.501G>A	c.(499-501)ATG>ATA	p.M167I	CEP350_uc001gnr.1_Missense_Mutation_p.M141I|CEP350_uc009wxl.2_Missense_Mutation_p.M166I|CEP350_uc001gnu.2_Missense_Mutation_p.M1I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	167						centrosome|nucleus|spindle				ovary(4)	4						GTAACTGGATGATAGGCAGTC	0.418		NaN											0	0	0	0.189662	0	19	15				
CDC42BPA	8476	broad.mit.edu	37	1	227307535	227307535	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:227307535C>T	uc001hqr.2	-	12	2560	c.1617G>A	c.(1615-1617)ACG>ACA	p.T539T	CDC42BPA_uc001hqs.2_Silent_p.T539T|CDC42BPA_uc009xes.2_Silent_p.T539T|CDC42BPA_uc010pvs.1_Silent_p.T539T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	539	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTGTTGTAACGTTTTGATTT	0.308		NaN											0	0	0	0.115264	0	3	18				
LYST	1130	broad.mit.edu	37	1	235907429	235907429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907429C>G	uc001hxj.2	-	30	8176	c.8001G>C	c.(7999-8001)TTG>TTC	p.L2667F	LYST_uc009xga.1_Missense_Mutation_p.L303F	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2667					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAGTTCTCAAAATGTCAA	0.294		NaN							Chediak-Higashi_syndrome				0	0	0	0.248553	0	7	65				
LYST	1130	broad.mit.edu	37	1	235907458	235907458	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907458C>G	uc001hxj.2	-	30	8148	c.7973_splice	c.e30-1	p.E2658_splice	LYST_uc009xga.1_Splice_Site_p.E294_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAATTAAATTCTTTGAATTGA	0.264		NaN							Chediak-Higashi_syndrome				0	0	0	0.150653	0	4	47				
CELF2	10659	broad.mit.edu	37	10	11308619	11308619	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:11308619G>A	uc001iki.3	+	6	668	c.576G>A	c.(574-576)ATG>ATA	p.M192I	CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Missense_Mutation_p.M192I|CELF2_uc001ikk.2_Missense_Mutation_p.M199I|CELF2_uc001ikl.3_Missense_Mutation_p.M199I|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Missense_Mutation_p.M168I|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Missense_Mutation_p.M168I|CELF2_uc001ikp.3_Missense_Mutation_p.M168I|CELF2_uc010qbn.1_Missense_Mutation_p.M176I|CELF2_uc010qbo.1_Missense_Mutation_p.M81I|CELF2_uc010qbp.1_Intron	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	192	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TCAAAGCCATGCATCAGTCTC	0.453		NaN											0	0	0	0.217242	0	5	34				
A1CF	29974	broad.mit.edu	37	10	52569778	52569778	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:52569778C>T	uc001jjj.2	-	12	1697	c.1509G>A	c.(1507-1509)CTG>CTA	p.L503L	A1CF_uc010qhn.1_Silent_p.L503L|A1CF_uc001jji.2_Silent_p.L495L|A1CF_uc001jjh.2_Silent_p.L503L|A1CF_uc010qho.1_Silent_p.L511L|A1CF_uc009xov.2_Silent_p.L495L	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	503					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						CAAAGGCACTCAGCTTTGGAG	0.483		NaN											0	0	0	0.279207	0	20	43				
NRG3	10718	broad.mit.edu	37	10	84118578	84118578	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:84118578G>C	uc001kco.2	+	2	934	c.907G>C	c.(907-909)GAG>CAG	p.E303Q	NRG3_uc010qlz.1_Missense_Mutation_p.E303Q|NRG3_uc001kcp.2_Missense_Mutation_p.E82Q|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	303	EGF-like.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAATGATGGCGAGTGCTTTGT	0.547		NaN											0	0	0	0.279207	0	24	59				
KIF11	3832	broad.mit.edu	37	10	94368903	94368903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:94368903C>G	uc001kic.2	+	5	822	c.514C>G	c.(514-516)CTT>GTT	p.L172V	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	172	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						TTTTGATCTTCTTAATCCATC	0.333		NaN											0	0	0	0.234183	0	19	82				
CHUK	1147	broad.mit.edu	37	10	101967090	101967090	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:101967090C>T	uc001kqp.2	-	11	1184	c.1129_splice	c.e11-1	p.R377_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CACAGCCTCTCTGAAAAAGAA	0.308		NaN											0	0	0	0.184627	0	4	35				
DCLRE1A	9937	broad.mit.edu	37	10	115596920	115596920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:115596920G>A	uc001law.2	-	8	3781	c.2863C>T	c.(2863-2865)CAG>TAG	p.Q955*		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	955					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCCAAAATCTGATTGTATTTC	0.368		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.268233	0	37	74				
FGFR2	2263	broad.mit.edu	37	10	123274680	123274680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:123274680G>A	uc010qtk.1	-	9	1885	c.1238C>T	c.(1237-1239)CCG>CTG	p.P413L	FGFR2_uc010qtg.1_Missense_Mutation_p.P301L|FGFR2_uc010qth.1_Missense_Mutation_p.P298L|FGFR2_uc010qti.1_Missense_Mutation_p.P324L|FGFR2_uc010qtj.1_Missense_Mutation_p.P414L|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.P298L|FGFR2_uc001lfl.3_Missense_Mutation_p.P414L|FGFR2_uc001lfm.2_Missense_Mutation_p.P325L|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.P23L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	413	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGCACAGCCGGCTGGCTGCT	0.493		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.249174	0	19	77				
CDHR5	53841	broad.mit.edu	37	11	620354	620354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:620354G>C	uc001lqj.2	-	8	927	c.822C>G	c.(820-822)ATC>ATG	p.I274M	CDHR5_uc001lqk.2_Missense_Mutation_p.I274M|CDHR5_uc009ycc.2_Missense_Mutation_p.I108M|CDHR5_uc009ycd.2_Missense_Mutation_p.I274M|CDHR5_uc001lql.2_Missense_Mutation_p.I274M|CDHR5_uc001lqm.2_Missense_Mutation_p.I108M|CDHR5_uc009yce.1_Missense_Mutation_p.I243M	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	274	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						CCTCAGCGTAGATGGGTCCGG	0.657		NaN											0	0	0	0.069234	0	9	57				
DUSP8	1850	broad.mit.edu	37	11	1579452	1579452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:1579452G>C	uc001lts.2	-	5	715	c.587C>G	c.(586-588)TCC>TGC	p.S196C		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	196	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CTTGGGGCAGGAGTTGCTGGC	0.592		NaN											0	0	0	0.160694	0	18	20				
OR52K1	390036	broad.mit.edu	37	11	4510933	4510933	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:4510933G>A	uc001lza.1	+	1	803	c.803G>A	c.(802-804)CGC>CAC	p.R268H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTGTAGCCCGCCATGCTGCC	0.502		NaN											0	0	0	0.193644	0	30	167				
NLRP10	338322	broad.mit.edu	37	11	7981220	7981220	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981220C>G	uc001mfv.1	-	2	1956	c.1939G>C	c.(1939-1941)GAG>CAG	p.E647Q		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	647							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGTTTCCTCTGTCCCTCTG	0.259		NaN											0	0	0	0.105934	0	11	12				
NLRP10	338322	broad.mit.edu	37	11	7981650	7981650	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981650C>G	uc001mfv.1	-	2	1526	c.1509G>C	c.(1507-1509)GAG>GAC	p.E503D		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	503							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCTTCCTGCTCCTTTACCT	0.488		NaN											0	0	0	0.214465	0	34	25				
TMEM132A	54972	broad.mit.edu	37	11	60695125	60695125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:60695125C>T	uc001nqj.2	+	3	521	c.328C>T	c.(328-330)CGA>TGA	p.R110*	TMEM132A_uc001nqi.2_Nonsense_Mutation_p.R110*|TMEM132A_uc001nqk.2_Nonsense_Mutation_p.R123*|TMEM132A_uc001nql.1_Nonsense_Mutation_p.R123*	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	110	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGTCCCCCCTCGAGTCACTGA	0.597		NaN											0	0	0	0.175082	0	12	169				
INTS5	80789	broad.mit.edu	37	11	62416037	62416037	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:62416037C>T	uc001nud.2	-	2	1568	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	505					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AGACAGACAGCAGGCCCAAGA	0.562		NaN											0	0	0	0.204396	0	17	100				
MRPL21	219927	broad.mit.edu	37	11	68660897	68660897	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:68660897G>T	uc001ooi.2	-	5	448	c.423C>A	c.(421-423)TTC>TTA	p.F141L	MRPL21_uc001ooh.2_Missense_Mutation_p.F56L|MRPL21_uc010rqe.1_Missense_Mutation_p.F141L	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	141					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAAGCAGCGTGAAGTTGTCTG	0.507		NaN											1	0	2.43139e-17	0.323286	2.70155e-17	49	50				
P2RY2	5029	broad.mit.edu	37	11	72945902	72945902	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:72945902C>T	uc001otj.2	+	3	1031	c.698C>T	c.(697-699)TCG>TTG	p.S233L	P2RY2_uc001otk.2_Missense_Mutation_p.S233L|P2RY2_uc001otl.2_Missense_Mutation_p.S233L	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	233	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	TACGGGACCTCGGGCGGCCTG	0.647		NaN											0	0	0	0.323286	0	61	56				
B3GNT6	192134	broad.mit.edu	37	11	76751660	76751660	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:76751660A>G	uc001oxw.2	+	6	1150	c.1062A>G	c.(1060-1062)CTA>CTG	p.L354L		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	354	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						AGTTGCTGCTAGTGCACCGCT	0.682		NaN											0	0	0	0.27861	0	6	26				
ATM	472	broad.mit.edu	37	11	108196036	108196036	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108196036G>A	uc001pkb.1	+	46	6958	c.6573_splice	c.e46-1	p.R2191_splice	ATM_uc009yxr.1_Splice_Site_p.R2191_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R843_splice|ATM_uc001pkg.1_Splice_Site_p.R548_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGCATTCAGATCAGTCACA	0.328		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.323286	0	48	14		Valid		
C11orf65	160140	broad.mit.edu	37	11	108264059	108264059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108264059G>C	uc001pkh.2	-	7	677	c.607C>G	c.(607-609)CTA>GTA	p.L203V	C11orf65_uc010rvx.1_Missense_Mutation_p.L154V|C11orf65_uc009yxu.1_RNA	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	203										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATTAGTCCTAGAGTTTCATGA	0.413		NaN											0	0	0	0.080935	0	10	89				
VPS11	55823	broad.mit.edu	37	11	118949563	118949563	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:118949563G>A	uc010ryx.1	+	14	2164	c.2122G>A	c.(2122-2124)GTG>ATG	p.V708M	VPS11_uc010ryy.1_Missense_Mutation_p.V554M	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	708					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTCATCAGCGTGTGTGAGCG	0.622		NaN											0	0	0	0.132662	0	15	9				
VSIG2	23584	broad.mit.edu	37	11	124620668	124620668	+	Silent	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:124620668G>T	uc001qas.2	-	3	445	c.369C>A	c.(367-369)GTC>GTA	p.V123V	VSIG2_uc001qat.2_Silent_p.V123V	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	123	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTGGGTTGTTGACTTGGCAGA	0.552		NaN											1	0	6.49762e-13	0.175082	7.14398e-13	16	20				
KDM5A	5927	broad.mit.edu	37	12	427453	427453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:427453C>A	uc001qif.1	-	19	3079	c.2716G>T	c.(2716-2718)GAA>TAA	p.E906*	KDM5A_uc001qie.1_Nonsense_Mutation_p.E906*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.E865*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	906					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						AGTCTTACTTCGTCCAACCAC	0.488		NaN	T 	NUP98	AML								1	0	2.32078e-09	0.132662	2.49931e-09	13	140				
FOXM1	2305	broad.mit.edu	37	12	2973567	2973567	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:2973567C>T	uc001qlf.2	-	8	1450	c.1185G>A	c.(1183-1185)GTG>GTA	p.V395V	FOXM1_uc001qle.2_Silent_p.V395V|FOXM1_uc001qlg.2_Silent_p.V380V|FOXM1_uc009zea.2_Silent_p.V380V|FOXM1_uc009zeb.2_Silent_p.V379V	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	395					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATGGCACCTTCACCGAGGGCT	0.592		NaN											0	0	0	0.323286	0	50	90				
KIF21A	55605	broad.mit.edu	37	12	39761747	39761747	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:39761747C>A	uc001rly.2	-	4	684	c.538G>T	c.(538-540)GAT>TAT	p.D180Y	KIF21A_uc001rlx.2_Missense_Mutation_p.D180Y|KIF21A_uc001rlz.2_Missense_Mutation_p.D180Y|KIF21A_uc010skl.1_Missense_Mutation_p.D180Y|KIF21A_uc001rma.1_Missense_Mutation_p.D180Y	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	180	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGTTGAATCTTCATGAATT	0.308		NaN											1	0	1.39843e-22	0.323286	1.58741e-22	50	147				
ZC3H10	84872	broad.mit.edu	37	12	56515546	56515546	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:56515546G>A	uc001sjp.1	+	3	1389	c.1200G>A	c.(1198-1200)TCG>TCA	p.S400S		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	400							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCTGTATCGATGGCCCAAC	0.592		NaN											0	0	0	0.307466	0	8	70				
NAP1L1	4673	broad.mit.edu	37	12	76449866	76449866	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:76449866C>T	uc001sxw.2	-	7	917	c.505G>A	c.(505-507)GAA>AAA	p.E169K	NAP1L1_uc001sxv.2_Missense_Mutation_p.E127K|NAP1L1_uc001sxz.2_Missense_Mutation_p.E100K|NAP1L1_uc001sxx.2_Missense_Mutation_p.E169K|NAP1L1_uc001sxy.2_Missense_Mutation_p.E106K|NAP1L1_uc010sty.1_Missense_Mutation_p.E126K|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Missense_Mutation_p.E169K|NAP1L1_uc001syb.2_Missense_Mutation_p.E169K|NAP1L1_uc001sya.2_Missense_Mutation_p.E127K|NAP1L1_uc001syc.2_Missense_Mutation_p.E180K	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	169					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				AACCAAAATTCAGGAATTCCT	0.328		NaN											0	0	0	0.080935	0	12	36				
ACSS3	79611	broad.mit.edu	37	12	81647291	81647291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:81647291G>C	uc001szl.1	+	15	1928	c.1837G>C	c.(1837-1839)GAG>CAG	p.E613Q	ACSS3_uc001szm.1_Missense_Mutation_p.E612Q|ACSS3_uc001szn.1_Missense_Mutation_p.E295Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	613						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGCAACAGAGGAGCAAGTTTT	0.398		NaN											0	0	0	0.323286	0	62	17				
ATP2B1	490	broad.mit.edu	37	12	90028786	90028786	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:90028786G>C	uc001tbh.2	-	3	830	c.649C>G	c.(649-651)CAA>GAA	p.Q217E	ATP2B1_uc001tbg.2_Missense_Mutation_p.Q217E	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	217	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TATTTCACTTGAGCAATATCT	0.348		NaN											0	0	0	0.323286	0	61	27				
CLIP1	6249	broad.mit.edu	37	12	122758620	122758620	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:122758620C>G	uc001ucg.1	-	24	4162	c.4056G>C	c.(4054-4056)CTG>CTC	p.L1352L	CLIP1_uc001uch.1_Silent_p.L1341L|CLIP1_uc001uci.1_Silent_p.L1306L|CLIP1_uc001ucf.1_Silent_p.L11L	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1352	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGTTCCCATTCAGGGCTGCTT	0.313		NaN											0	0	0	0.323286	0	119	139				
ANKLE2	23141	broad.mit.edu	37	12	133313491	133313491	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:133313491C>T	uc001ukx.2	-	8	1648	c.1581G>A	c.(1579-1581)CTG>CTA	p.L527L	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.L465L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	527						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGCTGGACTCAGGGGCCCTG	0.627		NaN											0	0	0	0.301197	0	40	61				
PCDH8	5100	broad.mit.edu	37	13	53420246	53420246	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:53420246G>A	uc001vhi.2	-	1	2529	c.2326C>T	c.(2326-2328)CGC>TGC	p.R776C	PCDH8_uc001vhj.2_Missense_Mutation_p.R776C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTTGCGGCGGTTGCAGGTG	0.617		NaN											0	0	0	0.27861	0	6	44				
RBM26	64062	broad.mit.edu	37	13	79945269	79945269	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:79945269G>A	uc001vkz.2	-	5	459	c.445C>T	c.(445-447)CGT>TGT	p.R149C	RBM26_uc001vky.2_Missense_Mutation_p.R149C|RBM26_uc001vla.2_Missense_Mutation_p.R149C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	149	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCGAGAACGATCATCTTTT	0.383		NaN											0	0	0	0.125774	0	27	23				
C14orf106	55320	broad.mit.edu	37	14	45673353	45673353	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:45673353C>T	uc001wwf.2	-	17	3817	c.3358G>A	c.(3358-3360)GAA>AAA	p.E1120K		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	1120					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TCTTTCTCTTCTTCATCTAAA	0.289		NaN											0	0	0	0.204396	0	20	28				
SOCS4	122809	broad.mit.edu	37	14	55509991	55509991	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:55509991T>C	uc001xbo.2	+	3	797	c.232T>C	c.(232-234)TTA>CTA	p.L78L	SOCS4_uc001xbp.2_Silent_p.L78L	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	78					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						TGAGTTGGACTTAGATCATTC	0.423		NaN											0	0	0	0.323286	0	55	74				
SYNE2	23224	broad.mit.edu	37	14	64457725	64457725	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:64457725C>G	uc001xgm.2	+	21	2768	c.2538C>G	c.(2536-2538)ATC>ATG	p.I846M	SYNE2_uc001xgl.2_Missense_Mutation_p.I846M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	846	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTGGACATCAGGCTGAAGA	0.423		NaN											0	0	0	0.248553	0	6	70				
SLC8A3	6547	broad.mit.edu	37	14	70518710	70518710	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:70518710G>C	uc001xly.2	-	5	2782	c.2028C>G	c.(2026-2028)TTC>TTG	p.F676L	SLC8A3_uc001xlu.2_Missense_Mutation_p.F33L|SLC8A3_uc001xlv.2_Missense_Mutation_p.F47L|SLC8A3_uc001xlw.2_Missense_Mutation_p.F673L|SLC8A3_uc001xlx.2_Missense_Mutation_p.F674L|SLC8A3_uc001xlz.2_Missense_Mutation_p.F670L|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.F33L	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	676	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTGACCTTGAACTCATAGG	0.308		NaN											0	0	0	0.09319	0	12	23				
LTBP2	4053	broad.mit.edu	37	14	75052569	75052569	+	Missense_Mutation	SNP	G	G	A	rs143282840		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:75052569G>A	uc001xqa.2	-	3	1205	c.818C>T	c.(817-819)TCG>TTG	p.S273L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	273					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCTGGTGGCGACTGTGGTGC	0.647		NaN											0	0	0	0.105934	0	11	29				
IFI27	3429	broad.mit.edu	37	14	94582170	94582170	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:94582170G>A	uc010tws.1	+	4	353	c.232G>A	c.(232-234)GGC>AGC	p.G78S	IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Silent_p.A58A	NM_005532	NP_005523	P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27 isoform	Error:Variant_position_missing_in_P40305_after_alignment					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion					0				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GCTTCACTGCGGCGGGAATCG	0.642		NaN											0	0	0	0.217242	0	6	8				
KIAA0284	283638	broad.mit.edu	37	14	105349634	105349634	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:105349634G>C	uc010axb.2	+	8	1064	c.840G>C	c.(838-840)AAG>AAC	p.K280N	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.K210N|KIAA0284_uc001yps.2_Missense_Mutation_p.K186N	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	280						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCTGGCAAGATGAAGATCA	0.637		NaN											0	0	0	0.058154	0	10	23				
RPAP1	26015	broad.mit.edu	37	15	41819472	41819472	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:41819472G>A	uc001zod.2	-	13	1763	c.1639C>T	c.(1639-1641)CGG>TGG	p.R547W		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	547						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TAGCGCAGCCGAGGCAGCAGG	0.622		NaN											0	0	0	0.234183	0	20	32				
CAPN3	825	broad.mit.edu	37	15	42702003	42702003	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:42702003G>A	uc001zpn.1	+	18	2317	c.2011G>A	c.(2011-2013)GAT>AAT	p.D671N	CAPN3_uc001zpk.1_Missense_Mutation_p.D438N|CAPN3_uc001zpl.1_Missense_Mutation_p.D578N|CAPN3_uc010udf.1_Missense_Mutation_p.D584N|CAPN3_uc010udg.1_Missense_Mutation_p.D536N|CAPN3_uc001zpo.1_Missense_Mutation_p.D665N|CAPN3_uc001zpp.1_Missense_Mutation_p.D579N|CAPN3_uc001zpq.1_Missense_Mutation_p.D159N|CAPN3_uc010bcv.1_Missense_Mutation_p.D6N|CAPN3_uc001zpr.1_Missense_Mutation_p.D6N|CAPN3_uc001zps.1_Missense_Mutation_p.D6N|CAPN3_uc001zpt.1_Missense_Mutation_p.D6N	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	671	EF-hand 1.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GATCTGTGCAGATGAGCTCAA	0.537		NaN											0	0	0	0.323286	0	118	129				
TGM5	9333	broad.mit.edu	37	15	43552710	43552710	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:43552710G>A	uc001zrd.1	-	2	86	c.78C>T	c.(76-78)ATC>ATT	p.I26I	TGM5_uc001zre.1_Silent_p.I26I	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	26					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTCCACAGTGATCTCCTCCG	0.577		NaN											0	0	0	0.323286	0	68	69				
FBXO22	26263	broad.mit.edu	37	15	76206519	76206519	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:76206519C>G	uc002bbk.2	+	4	541	c.436C>G	c.(436-438)CTT>GTT	p.L146V	FBXO22_uc002bbj.1_Missense_Mutation_p.L146V|FBXO22_uc002bbl.2_Missense_Mutation_p.L42V	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	146					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						ATGCCAAGTCCTTGGGATTGT	0.383		NaN											0	0	0	0.249174	0	18	43				
PKD1	5310	broad.mit.edu	37	16	2142498	2142498	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:2142498T>A	uc002cos.1	-	39	11461	c.11252A>T	c.(11251-11253)CAG>CTG	p.Q3751L	PKD1_uc002cot.1_Missense_Mutation_p.Q3750L|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3751	Polycystin motif.|Extracellular (Potential).		Q -> R (in ADPKD1).|Missing (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CAGCCGCACCTGCCGCAGCCG	0.592		NaN											0	0	0	0.080935	0	6	13				
C16orf71	146562	broad.mit.edu	37	16	4790239	4790239	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:4790239G>A	uc002cxn.2	+	4	824	c.362G>A	c.(361-363)AGA>AAA	p.R121K		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	121										central_nervous_system(1)	1						CAGGAAGGAAGAGACCCTGGC	0.572		NaN											0	0	0	0.279185	0	38	55				
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:24372924C>T	uc002dmf.2	+	4	1888	c.688C>T	c.(688-690)CGA>TGA	p.R230*		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537		NaN											0	0	0	0.175082	0	15	41				
RABEP2	79874	broad.mit.edu	37	16	28935803	28935803	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:28935803C>G	uc002drq.2	-	2	243	c.195G>C	c.(193-195)GAG>GAC	p.E65D	uc010vct.1_Intron|RABEP2_uc010vdf.1_Intron|RABEP2_uc010byn.2_Missense_Mutation_p.E65D|RABEP2_uc002drr.2_Missense_Mutation_p.E65D	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	65	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CCTTCGTGCTCTCGCTCACCT	0.647		NaN											0	0	0	0.217242	0	4	88				
IRX5	10265	broad.mit.edu	37	16	54965196	54965196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:54965196C>T	uc002ehv.2	+	1	86	c.86C>T	c.(85-87)TCG>TTG	p.S29L	uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.S29L|IRX5_uc002ehw.2_5'Flank	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	29					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						AGCGTCATTTCGGGGCCCCGC	0.682		NaN											0	0	0	0.248553	0	6	11				
GNAO1	2775	broad.mit.edu	37	16	56368731	56368731	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:56368731C>G	uc002eit.3	+	5	1452	c.555C>G	c.(553-555)ATC>ATG	p.I185M	GNAO1_uc002eiu.3_Missense_Mutation_p.I185M	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	185					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				CCACTGGCATCGTAGAAACCC	0.612		NaN											0	0	0	0.160694	0	16	27				
CDH8	1006	broad.mit.edu	37	16	61858917	61858917	+	Silent	SNP	C	C	T	rs148693252	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:61858917C>T	uc002eog.1	-	5	1086	c.834G>A	c.(832-834)CAG>CAA	p.Q278Q	CDH8_uc002eoh.2_Silent_p.Q47Q	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	278	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAACTTACTCTGTGCAAATT	0.353		NaN											0	0	0	0.189662	0	15	23				
ATP2C2	9914	broad.mit.edu	37	16	84495721	84495721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:84495721A>G	uc002fhx.2	+	26	2797	c.2708A>G	c.(2707-2709)AAC>AGC	p.N903S	ATP2C2_uc010chj.2_Missense_Mutation_p.N932S|ATP2C2_uc002fhy.2_Missense_Mutation_p.N920S|ATP2C2_uc002fhz.2_Missense_Mutation_p.N752S|ATP2C2_uc002fia.2_Missense_Mutation_p.N214S	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	903	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CAGACGGAGAACCTGGGAGCG	0.657		NaN											0	0	0	0.069234	0	10	81				
ZNF287	57336	broad.mit.edu	37	17	16466508	16466508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:16466508C>T	uc002gqi.2	-	5	1120	c.667G>A	c.(667-669)GAA>AAA	p.E223K		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	216	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGGTTCTTCCAATATGGGA	0.358		NaN											0	0	0	0.214465	0	30	15				
C17orf37	84299	broad.mit.edu	37	17	37886006	37886006	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:37886006C>T	uc002hsq.2	-	3	236	c.196G>A	c.(196-198)GAG>AAG	p.E66K		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	66					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTCTATCTCAAAGGCACCT	0.488		NaN											0	0	0	0.323286	0	49	88				
TUBG2	27175	broad.mit.edu	37	17	40815491	40815491	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:40815491C>G	uc010wgr.1	+	6	832	c.576C>G	c.(574-576)CTC>CTG	p.L192L	TUBG2_uc002iaq.2_Silent_p.L34L|TUBG2_uc002iar.2_Silent_p.L39L|TUBG2_uc002ias.2_Silent_p.L34L|TUBG2_uc002iap.2_Silent_p.L39L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	192					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCCTGACACTCAAGAGGCTGA	0.383		NaN											0	0	0	0.323286	0	86	111				
TEX14	56155	broad.mit.edu	37	17	56651579	56651579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:56651579C>A	uc010dcz.1	-	23	3608	c.3490G>T	c.(3490-3492)GAG>TAG	p.E1164*	TEX14_uc002iwr.1_Nonsense_Mutation_p.E1158*|TEX14_uc002iws.1_Nonsense_Mutation_p.E1118*|TEX14_uc010dda.1_Nonsense_Mutation_p.E898*	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1164						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGTGACTCCTTTGATGTC	0.368		NaN											1	0	1.13719e-10	0.134883	1.23736e-10	25	62				
KCNH6	81033	broad.mit.edu	37	17	61611651	61611651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:61611651C>G	uc002jay.2	+	5	1160	c.1080C>G	c.(1078-1080)ATC>ATG	p.I360M	KCNH6_uc002jax.1_Missense_Mutation_p.I360M|KCNH6_uc010wpl.1_Missense_Mutation_p.I237M|KCNH6_uc010wpm.1_Missense_Mutation_p.I360M|KCNH6_uc002jaz.1_Missense_Mutation_p.I360M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	360	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	ACCTCCTGATCTTCCGCACTG	0.632		NaN											0	0	0	0.294199	0	22	63				
SFRS2	6427	broad.mit.edu	37	17	74732295	74732295	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:74732295C>A	uc002jsv.2	-	2	784	c.614G>T	c.(613-615)CGA>CTA	p.R205L	SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R205L|SFRS2_uc010wtg.1_Missense_Mutation_p.R193L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	NM_003016	NP_003007	Q01130	SRSF2_HUMAN	splicing factor, arginine/serine-rich 2	205	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity				0						ACTCTTCGATCGCGACCTGGA	0.542		NaN											1	0	9.78306e-22	0.144211	1.09863e-21	29	85				
SLC26A11	284129	broad.mit.edu	37	17	78225191	78225191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:78225191G>T	uc002jyb.1	+	17	1989	c.1720G>T	c.(1720-1722)GAA>TAA	p.E574*	SLC26A11_uc002jyc.1_Nonsense_Mutation_p.E574*|SLC26A11_uc002jyd.1_Nonsense_Mutation_p.E574*|SLC26A11_uc010dhv.1_Nonsense_Mutation_p.E574*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	574	Extracellular (Potential).|STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTCTACCCTGGAAGAAGCAGG	0.458		NaN											1	0	1.12875e-08	0.116897	1.20938e-08	25	83				
EMILIN2	84034	broad.mit.edu	37	18	2891297	2891297	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:2891297C>T	uc002kln.2	+	4	1331	c.1172C>T	c.(1171-1173)TCA>TTA	p.S391L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	391					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		CAGGAGCCTTCAGCCCAGGCA	0.488		NaN											0	0	0	0.294199	0	27	34				
C18orf25	147339	broad.mit.edu	37	18	43796552	43796552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:43796552G>T	uc002lbw.2	+	2	1085	c.706G>T	c.(706-708)GAG>TAG	p.E236*	C18orf25_uc002lbx.2_Nonsense_Mutation_p.E236*	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	236										central_nervous_system(2)	2						AATCACTGCAGAGATACCAGG	0.433		NaN											1	0	0.000442599	0.058154	0.000449014	9	17				
DENND1C	79958	broad.mit.edu	37	19	6476930	6476930	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:6476930C>T	uc002mfe.2	-	10	708	c.616G>A	c.(616-618)GGG>AGG	p.G206R	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.G162R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	206	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GCGAACAGCCCCACGATGTTC	0.672		NaN											0	0	0	0.27861	0	7	35				
IL27RA	9466	broad.mit.edu	37	19	14159887	14159887	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:14159887G>T	uc002mxx.2	+	9	1659	c.1236G>T	c.(1234-1236)GAG>GAT	p.E412D		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	412	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						GGTTCAGGGAGGAATTAGGTA	0.602		NaN									OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.23904e-05	0.184627	1.27548e-05	5	66				
CEACAM5	1048	broad.mit.edu	37	19	42222226	42222226	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:42222226G>A	uc002ork.2	+	6	1538	c.1417G>A	c.(1417-1419)GGA>AGA	p.G473R	CEACAM5_uc002orj.1_Missense_Mutation_p.G472R|CEACAM5_uc002orl.2_Missense_Mutation_p.G473R	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	473	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GAAGAACAGCGGACTCTATAC	0.502		NaN											0	0	0	0.150653	0	4	79				
CLPTM1	1209	broad.mit.edu	37	19	45496010	45496010	+	Missense_Mutation	SNP	C	C	T	rs141261045		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:45496010C>T	uc002pai.2	+	14	1880	c.1865C>T	c.(1864-1866)ACG>ATG	p.T622M	CLPTM1_uc010xxf.1_Missense_Mutation_p.T520M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T608M	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	622	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGGCCCTCACGCCCACACCT	0.711		NaN											0	0	0	0.217242	0	6	70				
PRR12	57479	broad.mit.edu	37	19	50102618	50102618	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:50102618G>A	uc002poo.3	+	5	3768	c.3768G>A	c.(3766-3768)TCG>TCA	p.S1256S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	435	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTGGACTCGAGCCTGACTC	0.567		NaN											0	0	0	0.217242	0	6	34				
ZNF432	9668	broad.mit.edu	37	19	52537344	52537344	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:52537344C>T	uc002pyk.2	-	5	1906	c.1588G>A	c.(1588-1590)GTA>ATA	p.V530I		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	530	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCTGGTGTACAACAAGATTG	0.413		NaN											0	0	0	0.301197	0	44	108				
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:52942411G>A	uc002pzk.2	+	4	1798	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	579	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACACCTTGCGCGACATAGGA	0.443		NaN											0	0	0	0.115264	0	3	25				
ZNF765	91661	broad.mit.edu	37	19	53911005	53911005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:53911005G>C	uc010ydx.1	+	6	524	c.197G>C	c.(196-198)AGA>ACA	p.R66T	ZNF765_uc002qbm.2_Missense_Mutation_p.R66T|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		CAAGGCAATAGAGAAGTGTTC	0.358		NaN											0	0	0	0.279185	0	38	57				
LILRB2	10288	broad.mit.edu	37	19	54783434	54783434	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:54783434G>T	uc002qfb.2	-	5	690	c.424C>A	c.(424-426)CTC>ATC	p.L142I	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L142I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L142I|LILRB2_uc010yet.1_Missense_Mutation_p.L26I|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	142	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACACTGGAGGGTCACCCTT	0.582		NaN											1	0	4.26978e-12	0.279207	4.67007e-12	22	146				
PTPRH	5794	broad.mit.edu	37	19	55716720	55716720	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:55716720G>C	uc002qjq.2	-	4	666	c.593C>G	c.(592-594)TCC>TGC	p.S198C	PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.S205C	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	198	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTCTCCCGGGAGCTGTTGAT	0.507		NaN											0	0	0	0.27861	0	8	159				
ZNF470	388566	broad.mit.edu	37	19	57089446	57089446	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:57089446C>T	uc002qnl.3	+	6	2325	c.1649C>T	c.(1648-1650)GCA>GTA	p.A550V	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	550	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGTCAGATTGCACACCTTGTT	0.448		NaN											0	0	0	0.144211	0	29	64				
GEN1	348654	broad.mit.edu	37	2	17941319	17941319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:17941319G>A	uc002rct.2	+	2	182	c.109G>A	c.(109-111)GAG>AAG	p.E37K	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E37K|GEN1_uc002rcu.2_Missense_Mutation_p.E37K	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	37	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGGTGTGTGAGGCACAGAC	0.433		NaN						Homologous_recombination					0	0	0	0.080935	0	11	85				
PREPL	9581	broad.mit.edu	37	2	44548554	44548554	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:44548554C>G	uc002ruf.2	-	14	2160	c.2125G>C	c.(2125-2127)GAA>CAA	p.E709Q	PREPL_uc002rug.2_Missense_Mutation_p.E643Q|PREPL_uc002ruh.2_Missense_Mutation_p.E647Q|PREPL_uc010fax.2_Missense_Mutation_p.E709Q|PREPL_uc002rui.3_Missense_Mutation_p.E620Q|PREPL_uc002ruj.1_Missense_Mutation_p.E620Q|PREPL_uc002ruk.1_Missense_Mutation_p.E709Q	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	709					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCCAAGTTCCTCGTACAGG	0.348		NaN											0	0	0	0.324025	0	24	12				
CIAO1	9391	broad.mit.edu	37	2	96933152	96933152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:96933152C>T	uc002svs.2	+	2	438	c.233C>T	c.(232-234)TCT>TTT	p.S78F	TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	WD repeat domain 39	78	WD 2.				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding				0						TACCTGGCCTCTGCCAGCTTT	0.547		NaN											0	0	0	0.160694	0	13	120				
SCN1A	6323	broad.mit.edu	37	2	166908238	166908238	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:166908238G>C	uc010zcz.1	-	6	973	c.955C>G	c.(955-957)CAA>GAA	p.Q319E	SCN1A_uc002udo.3_Missense_Mutation_p.Q188E|SCN1A_uc010fpk.2_Missense_Mutation_p.Q188E	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	319	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTGAATCTTGAATATATGAC	0.174		NaN											0	0	0	0.217242	0	5	21				
AGPS	8540	broad.mit.edu	37	2	178362475	178362475	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:178362475A>G	uc002ull.2	+	13	1391	c.1344A>G	c.(1342-1344)AAA>AAG	p.K448K	AGPS_uc010zfb.1_Silent_p.K358K	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	448					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACGGATTAAAAAAGTTTTATA	0.279		NaN											0	0	0	0.058154	0	8	5				
NCKAP1	10787	broad.mit.edu	37	2	183868005	183868005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:183868005G>C	uc002upc.2	-	3	670	c.268C>G	c.(268-270)CTG>GTG	p.L90V	NCKAP1_uc002upb.2_Missense_Mutation_p.L96V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	90					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATAATGCCAGATTTTTCAGA	0.254		NaN											0	0	0	0.27861	0	7	31				
STK36	27148	broad.mit.edu	37	2	219549924	219549924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:219549924G>C	uc002viu.2	+	11	1619	c.1353G>C	c.(1351-1353)CAG>CAC	p.Q451H	STK36_uc002viv.2_Missense_Mutation_p.Q451H	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	451					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGCATCCAGAGTCAGCTGC	0.507		NaN											0	0	0	0.204396	0	17	42				
CHRNG	1146	broad.mit.edu	37	2	233409214	233409214	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:233409214C>G	uc002vsx.1	+	10	1194	c.1173C>G	c.(1171-1173)CTC>CTG	p.L391L	CHRNG_uc010fye.1_Silent_p.L339L	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	391	Cytoplasmic (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGGTGGCCCTCTGCCTGCCTC	0.662		NaN											0	0	0	0.323286	0	55	23				
SERINC3	10955	broad.mit.edu	37	20	43139962	43139962	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:43139962G>C	uc002xme.2	-	4	577	c.443C>G	c.(442-444)TCT>TGT	p.S148C	SERINC3_uc002xmf.1_Missense_Mutation_p.S148C|SERINC3_uc010ggs.1_Missense_Mutation_p.S141C|SERINC3_uc010zwp.1_Missense_Mutation_p.S93C	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	148	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GATGTAGAAAGAGCCAACCAT	0.353		NaN											0	0	0	0.279207	0	20	22				
ZNF334	55713	broad.mit.edu	37	20	45132865	45132865	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:45132865G>C	uc002xsc.2	-	4	413	c.229C>G	c.(229-231)CAG>GAG	p.Q77E	ZNF334_uc002xsa.2_Missense_Mutation_p.Q100E|ZNF334_uc002xsb.2_Missense_Mutation_p.Q39E|ZNF334_uc002xsd.2_Missense_Mutation_p.Q39E|ZNF334_uc010ghl.2_Missense_Mutation_p.Q76E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GGGTAGTTCTGATTTGAGAAT	0.408		NaN											0	0	0	0.204396	0	16	25				
TRPM2	7226	broad.mit.edu	37	21	45861676	45861676	+	Silent	SNP	C	C	T	rs147981149		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr21:45861676C>T	uc002zet.1	+	33	4701	c.4488C>T	c.(4486-4488)GCC>GCT	p.A1496A	TRPM2_uc002zeu.1_Silent_p.A1496A|TRPM2_uc002zew.1_Silent_p.A1496A|TRPM2_uc010gpt.1_Silent_p.A1546A|TRPM2_uc002zex.1_Silent_p.A1282A|TRPM2_uc002zey.1_Silent_p.A975A|TRPM2_uc011aff.1_Silent_p.A177A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1496	Nudix hydrolase.|Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGAAGGCAGCCGCTGAGTTCG	0.642		NaN											0	0	0	0.26419	0	21	20				
CYTSA	23384	broad.mit.edu	37	22	24720319	24720319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:24720319C>G	uc002zzw.2	+	6	2377	c.2070C>G	c.(2068-2070)ATC>ATG	p.I690M	CYTSA_uc002zzv.3_Missense_Mutation_p.I690M|CYTSA_uc011ajq.1_Missense_Mutation_p.I690M	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	690	Potential.				cell cycle|cell division						0						AAGAAACCATCTTTGAACTTG	0.328		NaN											0	0	0	0.204396	0	18	28				
NOL12	79159	broad.mit.edu	37	22	38084997	38084997	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:38084997G>A	uc003atp.2	+	4	435	c.379G>A	c.(379-381)GAG>AAG	p.E127K	NOL12_uc011anm.1_Missense_Mutation_p.E127K|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	127						nucleolus	rRNA binding				0	Melanoma(58;0.0574)					GACCCCACCTGAGGTGGGTCC	0.657		NaN											0	0	0	0.144211	0	27	72				
ATF4	468	broad.mit.edu	37	22	39918553	39918553	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:39918553G>A	uc003axz.2	+	3	1282	c.1002G>A	c.(1000-1002)CTG>CTA	p.L334L	ATF4_uc011aol.1_Silent_p.L246L|ATF4_uc003aya.2_Silent_p.L334L	NM_182810	NP_877962	P18848	ATF4_HUMAN	activating transcription factor 4	334	Leucine-zipper.|Interaction with GABBR1 (By similarity).|				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.04)					TCCAGTACCTGAAAGATTTGA	0.512		NaN											0	0	0	0.115264	0	3	17				
MPPED1	758	broad.mit.edu	37	22	43831096	43831096	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:43831096G>T	uc011apv.1	+	3	590	c.367G>T	c.(367-369)GGG>TGG	p.G123W	MPPED1_uc011apw.1_Missense_Mutation_p.G17W|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.G123W|MPPED1_uc011apz.1_Missense_Mutation_p.G156W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	123							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACTGAGCTGGGGCTCCCGAG	0.667		NaN											1	0	3.52763e-06	0.160694	3.68559e-06	17	35				
CAPN7	23473	broad.mit.edu	37	3	15283750	15283750	+	Silent	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:15283750T>G	uc003bzn.2	+	16	2124	c.1854T>G	c.(1852-1854)GTT>GTG	p.V618V		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	618	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						GGAAAAAAGTTTATTACCCAG	0.279		NaN											0	0	0	0.27861	0	8	48				
ZNF501	115560	broad.mit.edu	37	3	44776196	44776196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:44776196C>T	uc003cnu.1	+	3	684	c.283C>T	c.(283-285)CAG>TAG	p.Q95*	ZNF501_uc003cnv.1_Nonsense_Mutation_p.Q95*	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	zinc finger protein 501	95	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AATTCTTGTTCAGCATCTGAG	0.368		NaN											0	0	0	0.324025	0	22	92				
MAGI1	9223	broad.mit.edu	37	3	65367599	65367599	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:65367599T>C	uc003dmn.2	-	16	3180	c.2654A>G	c.(2653-2655)AAG>AGG	p.K885R	MAGI1_uc003dmm.2_Missense_Mutation_p.K913R|MAGI1_uc003dmo.2_Missense_Mutation_p.K913R|MAGI1_uc003dmp.2_Missense_Mutation_p.K885R|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.K196R	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	913					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGGCCTTGCTTGGCAGCTTG	0.483		NaN											0	0	0	0.116897	0	27	33				
PHLDB2	90102	broad.mit.edu	37	3	111685499	111685499	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:111685499G>C	uc010hqa.2	+	14	3528	c.3117G>C	c.(3115-3117)GAG>GAC	p.E1039D	PHLDB2_uc003dyc.2_Missense_Mutation_p.E1023D|PHLDB2_uc003dyd.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1039D|PHLDB2_uc003dyh.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyi.2_Missense_Mutation_p.E530D|PHLDB2_uc003dyj.2_Missense_Mutation_p.E94D	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1039	Potential.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAGAAATGGAGAGACTTTTGA	0.418		NaN											0	0	0	0.323286	0	47	40				
C3orf17	25871	broad.mit.edu	37	3	112724558	112724558	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:112724558C>G	uc003dzr.2	-	9	1590	c.1529G>C	c.(1528-1530)GGA>GCA	p.G510A	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.G135A|C3orf17_uc011bhz.1_Missense_Mutation_p.G135A|C3orf17_uc010hqh.2_Missense_Mutation_p.G135A|C3orf17_uc003dzt.2_Missense_Mutation_p.G413A|C3orf17_uc003dzs.2_Missense_Mutation_p.G374A|C3orf17_uc010hqg.2_Missense_Mutation_p.G335A|C3orf17_uc011bia.1_Missense_Mutation_p.G307A|C3orf17_uc003dzu.2_Missense_Mutation_p.G439A|C3orf17_uc011bib.1_Missense_Mutation_p.G399A|C3orf17_uc011bic.1_Missense_Mutation_p.G343A|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	510						integral to membrane					0						CATTGAAACTCCACTATTCAA	0.413		NaN											0	0	0	0.26419	0	19	75				
ATP6V1A	523	broad.mit.edu	37	3	113499971	113499971	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:113499971G>C	uc003eao.2	+	3	223	c.157G>C	c.(157-159)GAG>CAG	p.E53Q	ATP6V1A_uc011bik.1_Missense_Mutation_p.E20Q	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	53					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						ATTGGTTGGAGAGATTATTCG	0.433		NaN											0	0	0	0.323286	0	62	60				
PLA1A	51365	broad.mit.edu	37	3	119327641	119327641	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:119327641G>C	uc003ecu.2	+	3	339	c.300G>C	c.(298-300)TGG>TGC	p.W100C	PLA1A_uc003ecv.2_Missense_Mutation_p.W100C|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	100					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AGCCTTCCTGGATTGACACAT	0.423		NaN											0	0	0	0.279185	0	34	113				
CPA3	1359	broad.mit.edu	37	3	148601417	148601417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:148601417G>A	uc003ewm.2	+	9	848	c.796G>A	c.(796-798)GAC>AAC	p.D266N		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	266					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAACACCAATGACCCATGTGC	0.458		NaN											0	0	0	0.150653	0	4	69				
LRRC31	79782	broad.mit.edu	37	3	169558008	169558008	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:169558008C>A	uc003fgc.1	-	9	1498	c.1421G>T	c.(1420-1422)TGC>TTC	p.C474F	LRRC31_uc010hwp.1_Missense_Mutation_p.C418F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	474	LRR 9.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACGTTTTGGCAGAACATGGT	0.468		NaN											1	0	4.3838e-07	0.105934	4.62612e-07	12	73				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.069234	0	10	42		Valid		
USP13	8975	broad.mit.edu	37	3	179458119	179458119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:179458119G>A	uc003fkh.2	+	11	1420	c.1339G>A	c.(1339-1341)GAT>AAT	p.D447N	USP13_uc003fkf.2_Missense_Mutation_p.D447N	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	447					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGCAGCAAGATGCCCAGGA	0.507		NaN											0	0	0	0.249174	0	21	80				
DNAJB11	51726	broad.mit.edu	37	3	186289895	186289895	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:186289895A>G	uc003fqi.2	+	2	300	c.80A>G	c.(79-81)TAT>TGT	p.Y27C	TBCCD1_uc011bry.1_5'Flank|TBCCD1_uc003fqh.2_5'Flank	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	27	J.				protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CGAGATTTCTATAAGATCTTG	0.393		NaN											0	0	0	0.214465	0	29	22				
TMEM44	93109	broad.mit.edu	37	3	194309273	194309273	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:194309273C>G	uc010hzn.2	-	11	1582	c.1413G>C	c.(1411-1413)CTG>CTC	p.L471L	TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Silent_p.L156L|TMEM44_uc003fue.2_Silent_p.L424L|TMEM44_uc003fud.2_Silent_p.L435L|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Silent_p.L434L|uc003fug.2_5'Flank	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	471	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CATCATCACTCAGGTGTGCTG	0.532		NaN											0	0	0	0.268233	0	40	38				
EVC2	132884	broad.mit.edu	37	4	5633750	5633750	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:5633750C>G	uc003gij.2	-	11	1534	c.1480G>C	c.(1480-1482)GAG>CAG	p.E494Q	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.E414Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	494	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TTGCTGCACTCTACAGCAGAC	0.398		NaN											0	0	0	0.058154	0	8	47				
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:38091654C>T	uc003gtb.2	+	13	2495	c.2152C>T	c.(2152-2154)CGT>TGT	p.R718C	TBC1D1_uc011byd.1_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.2_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	718						nucleus	Rab GTPase activator activity			ovary(1)	1						AAGGACATCTCGTGAGCTCCG	0.488		NaN											0	0	0	0.160694	0	17	52				
GABRA4	2557	broad.mit.edu	37	4	46979532	46979532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:46979532G>A	uc003gxg.2	-	4	528	c.389C>T	c.(388-390)CCT>CTT	p.P130L		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	130	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAGTATCAGGGGTCCACAC	0.348		NaN											0	0	0	0.144211	0	32	33				
CLGN	1047	broad.mit.edu	37	4	141327104	141327104	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:141327104C>G	uc011chi.1	-	6	629	c.411G>C	c.(409-411)TTG>TTC	p.L137F	CLGN_uc003iii.2_Missense_Mutation_p.L137F	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	137	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					ACTGAACTATCAAGGGTTTAT	0.333		NaN											0	0	0	0.069234	0	8	49				
ZNF827	152485	broad.mit.edu	37	4	146824287	146824287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:146824287C>A	uc003ikn.2	-	2	172	c.124G>T	c.(124-126)GAA>TAA	p.E42*	ZNF827_uc003ikm.2_Nonsense_Mutation_p.E42*|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TAGGATGCTTCTGACGGAGTC	0.532		NaN											1	0	1.3612e-06	0.132662	1.42926e-06	11	93				
NR3C2	4306	broad.mit.edu	37	4	149073667	149073667	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:149073667A>G	uc003ilj.3	-	6	2797	c.2463T>C	c.(2461-2463)CAT>CAC	p.H821H	NR3C2_uc003ilk.3_Silent_p.H704H|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	821	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTGTTCGTATGTTTGTACG	0.368		NaN											0	0	0	0.27861	0	7	81				
DCLK2	166614	broad.mit.edu	37	4	151141909	151141909	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:151141909G>T	uc003ilm.3	+	6	1211	c.1111G>T	c.(1111-1113)GAC>TAC	p.D371Y	DCLK2_uc003iln.3_Missense_Mutation_p.D370Y|DCLK2_uc003ilo.3_Missense_Mutation_p.D388Y|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	371					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ACCTGAGCTTGACCGTTGCAT	0.413		NaN											1	0	1.76689e-08	0.058154	1.88349e-08	8	18				
MARCH11	441061	broad.mit.edu	37	5	16067594	16067594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:16067594C>T	uc003jfo.2	-	4	1408	c.1195G>A	c.(1195-1197)GTG>ATG	p.V399M	MARCH11_uc010itw.1_Missense_Mutation_p.V155M	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	399	PDZ-binding.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						ACTGAAGTCACTCTCATCACA	0.443		NaN											0	0	0	0.323286	0	136	155				
BDP1	55814	broad.mit.edu	37	5	70806316	70806316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:70806316G>A	uc003kbp.1	+	17	3660	c.3397G>A	c.(3397-3399)GAG>AAG	p.E1133K	BDP1_uc003kbn.1_Missense_Mutation_p.E1133K|BDP1_uc003kbo.2_Missense_Mutation_p.E1133K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1133	6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGACACCAGAGGTGATTGA	0.478		NaN											0	0	0	0.234183	0	19	59				
HSD17B4	3295	broad.mit.edu	37	5	118814608	118814608	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:118814608C>G	uc003ksj.2	+	8	637	c.514C>G	c.(514-516)CTG>GTG	p.L172V	HSD17B4_uc011cwg.1_Missense_Mutation_p.L148V|HSD17B4_uc011cwh.1_Missense_Mutation_p.L154V|HSD17B4_uc011cwi.1_Missense_Mutation_p.L197V|HSD17B4_uc003ksk.3_Missense_Mutation_p.L25V|HSD17B4_uc011cwj.1_Missense_Mutation_p.L25V|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	172	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GTTGGGTCTTCTGGGCCTTGC	0.408		NaN											0	0	0	0.246493	0	38	71				
PCDHA7	56141	broad.mit.edu	37	5	140214295	140214295	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:140214295C>T	uc003lhq.2	+	1	327	c.327C>T	c.(325-327)ATC>ATT	p.I109I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.I109I	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	109	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552		NaN											0	0	0	0.163468	0	29	214				
DOCK2	1794	broad.mit.edu	37	5	169494533	169494533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:169494533A>T	uc003maf.2	+	45	4567	c.4487A>T	c.(4486-4488)GAG>GTG	p.E1496V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E988V|DOCK2_uc003mah.2_Missense_Mutation_p.E52V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1496	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCTCTGGAGAATGCCATA	0.418		NaN											0	0	0	0.219247	0	20	41				
COL11A2	1302	broad.mit.edu	37	6	33144976	33144976	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:33144976G>A	uc003ocx.1	-	24	2226	c.1998C>T	c.(1996-1998)ATC>ATT	p.I666I	COL11A2_uc010jul.1_Missense_Mutation_p.S46L|COL11A2_uc003ocy.1_Silent_p.I580I|COL11A2_uc003ocz.1_Silent_p.I559I	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	666	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CATGAGGGCCGATGGCACCCT	0.547		NaN											0	0	0	0.193644	0	30	33				
UHRF1BP1	54887	broad.mit.edu	37	6	34825934	34825934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34825934G>C	uc003oju.3	+	14	2035	c.1801G>C	c.(1801-1803)GAG>CAG	p.E601Q	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	601										ovary(3)	3						AGAGCGGGCAGAGTTGCATCG	0.473		NaN											0	0	0	0.214465	0	35	46				
UHRF1BP1	54887	broad.mit.edu	37	6	34826146	34826146	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826146G>A	uc003oju.3	+	14	2247	c.2013G>A	c.(2011-2013)CAG>CAA	p.Q671Q	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	671										ovary(3)	3						ATGCCTTTCAGATGGATTCCT	0.488		NaN											0	0	0	0.323286	0	41	70				
UHRF1BP1	54887	broad.mit.edu	37	6	34826515	34826515	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826515G>A	uc003oju.3	+	14	2616	c.2382G>A	c.(2380-2382)CTG>CTA	p.L794L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	794										ovary(3)	3						TGGAAATTCTGAAAGAAGGCA	0.493		NaN											0	0	0	0.323286	0	77	79				
MDN1	23195	broad.mit.edu	37	6	90398348	90398348	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:90398348A>G	uc003pnn.1	-	66	11319	c.11203T>C	c.(11203-11205)TCA>CCA	p.S3735P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3735					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGCCTCTGAGAAACCTTGA	0.537		NaN											0	0	0	0.307466	0	8	16				
TULP4	56995	broad.mit.edu	37	6	158923390	158923390	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:158923390G>A	uc003qrf.2	+	13	4052	c.2695G>A	c.(2695-2697)GAG>AAG	p.E899K	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	899					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAACGTGGAGGAGGTGTGCCG	0.642		NaN											0	0	0	0.323286	0	47	72				
ADAP1	11033	broad.mit.edu	37	7	938746	938746	+	Silent	SNP	C	C	T	rs146090079		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:938746C>T	uc003sjo.3	-	10	1196	c.1020G>A	c.(1018-1020)ACG>ACA	p.T340T	ADAP1_uc003sjm.3_Silent_p.T166T|ADAP1_uc011jvs.1_Silent_p.T245T|ADAP1_uc003sjn.3_Silent_p.T268T|ADAP1_uc010ksc.2_Silent_p.T268T	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	340	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						GGTCGGACTCCGTCTCGCAGG	0.597		NaN											0	0	0	0.268233	0	39	63				
DAGLB	221955	broad.mit.edu	37	7	6449968	6449968	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:6449968C>G	uc003sqa.2	-	14	1783	c.1613G>C	c.(1612-1614)GGA>GCA	p.G538A	DAGLB_uc003spy.2_Missense_Mutation_p.G84A|DAGLB_uc003spz.2_Missense_Mutation_p.G235A|DAGLB_uc011jwt.1_Missense_Mutation_p.G352A|DAGLB_uc011jwu.1_Missense_Mutation_p.G409A|DAGLB_uc003sqb.2_Missense_Mutation_p.G257A|DAGLB_uc003sqc.2_Missense_Mutation_p.G257A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.G497A	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	538	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GTTGGGGTTTCCTCCAAACAG	0.592		NaN											0	0	0	0.257332	0	36	56				
DNAH11	8701	broad.mit.edu	37	7	21932046	21932046	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:21932046G>A	uc003svc.2	+	78	12563	c.12532G>A	c.(12532-12534)GAA>AAA	p.E4178K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4178					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GTTCAAGACTGAAGATGAACT	0.478		NaN							Kartagener_syndrome				0	0	0	0.323286	0	124	215				
UBE2D4	51619	broad.mit.edu	37	7	43982600	43982600	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:43982600T>C	uc003tja.1	+	4	253	c.168T>C	c.(166-168)TTT>TTC	p.F56F	POLR2J4_uc003tjc.2_RNA|UBE2D4_uc003tjb.1_Silent_p.F18F	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	56					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0						CCATCCACTTTCCTACAGATT	0.507		NaN											0	0	0	0.323286	0	64	90				
NPC1L1	29881	broad.mit.edu	37	7	44573141	44573141	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:44573141C>T	uc003tlb.2	-	8	2354	c.2298G>A	c.(2296-2298)ATG>ATA	p.M766I	NPC1L1_uc003tlc.2_Missense_Mutation_p.M766I|NPC1L1_uc011kbw.1_Missense_Mutation_p.M766I|NPC1L1_uc003tld.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	766	Extracellular (Potential).|SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GCACAGCTGGCATGGGGGTCA	0.632		NaN											0	0	0	0.27861	0	8	90				
PKD1L1	168507	broad.mit.edu	37	7	47884664	47884664	+	Silent	SNP	G	G	A	rs140257069		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:47884664G>A	uc003tny.1	-	33	5166	c.5166C>T	c.(5164-5166)CTC>CTT	p.L1722L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1722	Extracellular (Potential).|GPS.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CGAATGCCGCGAGGCGATGGT	0.463		NaN											0	0	0	0.183431	0	27	31				
PSPH	5723	broad.mit.edu	37	7	56079478	56079478	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:56079478G>T	uc003trg.2	-	7	1018	c.655C>A	c.(655-657)CTG>ATG	p.L219M	PSPH_uc003trh.2_Missense_Mutation_p.L219M|PSPH_uc003tri.2_Missense_Mutation_p.L219M|PSPH_uc003trj.2_Missense_Mutation_p.L248M	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	219					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCCCAGCAGCTCTACAAAA	0.378		NaN											1	0	3.28513e-13	0.294199	3.63093e-13	22	122				
RABGEF1	27342	broad.mit.edu	37	7	66273984	66273984	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66273984G>A	uc011kee.1	+	9	1395	c.1231G>A	c.(1231-1233)GAG>AAG	p.E411K	RABGEF1_uc003tvf.2_Missense_Mutation_p.E270K|RABGEF1_uc003tvg.2_Missense_Mutation_p.E205K|RABGEF1_uc010lag.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvh.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvi.2_Missense_Mutation_p.E231K	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	614					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GCAAGAAGCTGAGAGTTGGTC	0.453		NaN											0	0	0	0.294199	0	25	15				
RABGEF1	27342	broad.mit.edu	37	7	66274059	66274059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66274059G>C	uc011kee.1	+	9	1470	c.1306G>C	c.(1306-1308)GAA>CAA	p.E436Q	RABGEF1_uc003tvf.2_Missense_Mutation_p.E295Q|RABGEF1_uc003tvg.2_Missense_Mutation_p.E230Q|RABGEF1_uc010lag.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvh.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvi.2_Missense_Mutation_p.E256Q	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	639	Potential.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TCAGTTGAATGAACGACAAGA	0.428		NaN											0	0	0	0.175082	0	18	32				
ZNF655	79027	broad.mit.edu	37	7	99170613	99170613	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99170613G>C	uc003urh.2	+	3	1275	c.882G>C	c.(880-882)AAG>AAC	p.K294N	ZNF655_uc010lga.2_Missense_Mutation_p.K329N|ZNF655_uc010lgc.2_Missense_Mutation_p.K329N|ZNF655_uc003urj.2_Missense_Mutation_p.K294N|ZNF655_uc003urk.2_Missense_Mutation_p.K131N|ZNF655_uc010lgd.2_Missense_Mutation_p.K131N	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	294					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TTCAGCATAAGAAAATTCACA	0.383		NaN											0	0	0	0.125774	0	30	66				
STAG3	10734	broad.mit.edu	37	7	99798542	99798542	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99798542G>T	uc003utx.1	+	19	2166	c.2011G>T	c.(2011-2013)GTA>TTA	p.V671L	STAG3_uc010lgs.1_Missense_Mutation_p.V459L|STAG3_uc011kjk.1_Missense_Mutation_p.V613L|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	671					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCAGCTAGTAGATTTGCT	0.592		NaN											1	0	2.31682e-05	0.132662	2.37333e-05	10	67				
MUC17	140453	broad.mit.edu	37	7	100683101	100683101	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:100683101A>G	uc003uxp.1	+	3	8457	c.8404A>G	c.(8404-8406)ACC>GCC	p.T2802A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2802	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAACCTCAACTCC	0.493		NaN											0	0	0	0.323286	0	109	388				
EPHB6	2051	broad.mit.edu	37	7	142567654	142567654	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:142567654G>C	uc011kst.1	+	17	3329	c.2542G>C	c.(2542-2544)GGG>CGG	p.G848R	EPHB6_uc011ksu.1_Missense_Mutation_p.G848R|EPHB6_uc003wbs.2_Missense_Mutation_p.G556R|EPHB6_uc003wbt.2_Missense_Mutation_p.G322R|EPHB6_uc003wbu.2_Missense_Mutation_p.G556R|EPHB6_uc003wbv.2_Missense_Mutation_p.G232R	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	848	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CTGGAGCTTTGGGATACTCAT	0.522		NaN											0	0	0	0.134883	0	24	28				
MLL3	58508	broad.mit.edu	37	7	151879673	151879673	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:151879673G>A	uc003wla.2	-	36	5491	c.5272C>T	c.(5272-5274)CGT>TGT	p.R1758C	MLL3_uc003wkz.2_Missense_Mutation_p.R819C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1758	Potential.|Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTTTCTGACGCATTTGCTAT	0.294		NaN	N		medulloblastoma								0	0	0	0.144211	0	28	59		Valid		
CSMD1	64478	broad.mit.edu	37	8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:3265577C>T	uc011kwk.1	-	14	2308	c.1918G>A	c.(1918-1920)GCG>ACG	p.A640T	CSMD1_uc011kwj.1_Missense_Mutation_p.A32T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	640	Extracellular (Potential).|CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453		NaN											0	0	0	0.307466	0	6	32				
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:23112846C>T	uc003xdc.2	+	4	1206	c.558C>T	c.(556-558)CTC>CTT	p.L186L	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	186					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582		NaN											0	0	0	0.125774	0	28	41				
PPP2R2A	5520	broad.mit.edu	37	8	26227900	26227900	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:26227900C>T	uc003xeu.2	+	10	1617	c.1315C>T	c.(1315-1317)CTG>TTG	p.L439L	PPP2R2A_uc003xek.2_Silent_p.L440L|PPP2R2A_uc011laf.1_Silent_p.L449L	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	439	WD 7.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAAACAATCTGTATATATT	0.393		NaN											0	0	0	0.193644	0	29	50				
PREX2	80243	broad.mit.edu	37	8	69030877	69030877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:69030877C>G	uc003xxv.1	+	27	3446	c.3419C>G	c.(3418-3420)TCA>TGA	p.S1140*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1140					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAAATGGACTCAGGTGTGTTC	0.418		NaN											0	0	0	0.323286	0	44	49				
UBR5	51366	broad.mit.edu	37	8	103373850	103373850	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:103373850G>C	uc003ykr.1	-	2	100	c.67C>G	c.(67-69)CGA>GGA	p.R23G	UBR5_uc003yks.1_Missense_Mutation_p.R23G	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	23					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAAACTTCTCGTAACCTTTAA	0.264		NaN											0	0	0	0.217242	0	5	62				
EXOSC4	54512	broad.mit.edu	37	8	145134859	145134859	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:145134859G>T	uc003zau.2	+	2	295	c.185G>T	c.(184-186)CGG>CTG	p.R62L	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGCTCCCGGGCTCGAGCC	0.612		NaN											1	0	4.67007e-22	0.268233	5.27265e-22	34	123				
NAA35	60560	broad.mit.edu	37	9	88611429	88611429	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:88611429A>T	uc004aoi.3	+	12	1130	c.993A>T	c.(991-993)AGA>AGT	p.R331S	NAA35_uc004aoj.3_Missense_Mutation_p.R331S	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	331					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				skin(2)|central_nervous_system(1)	3						ATTTTGCAAGATTAATAGATA	0.353		NaN											0	0	0	0.246493	0	40	19				
GAPVD1	26130	broad.mit.edu	37	9	128113141	128113141	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:128113141G>C	uc010mwx.2	+	23	3939	c.3613G>C	c.(3613-3615)GAG>CAG	p.E1205Q	GAPVD1_uc004bpp.2_Missense_Mutation_p.E1214Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1187Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1166Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E1160Q|GAPVD1_uc004bpt.2_Missense_Mutation_p.E220Q	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1205					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TTCGATTGCTGAGGACTACAG	0.383		NaN											0	0	0	0.184627	0	4	82				
SLC2A6	11182	broad.mit.edu	37	9	136341379	136341379	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:136341379G>A	uc004cee.2	-	4	637	c.542C>T	c.(541-543)TCC>TTC	p.S181F	SLC2A6_uc004cef.2_Missense_Mutation_p.S181F|SLC2A6_uc004ceg.2_Missense_Mutation_p.S181F|SLC2A6_uc011mdj.1_Missense_Mutation_p.S181F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	181	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GAGGGACAGGGATCCGAACAC	0.647		NaN											0	0	0	0.150653	0	4	44				
RXRA	6256	broad.mit.edu	37	9	137293588	137293588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:137293588C>G	uc004cfb.2	+	2	301	c.139C>G	c.(139-141)CTG>GTG	p.L47V	RXRA_uc004cfa.1_Missense_Mutation_p.A97G	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	47	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCCGGGACAGCTGCATTCTCC	0.697		NaN											0	0	0	0.323286	0	56	28		Valid		
ARSH	347527	broad.mit.edu	37	X	2928167	2928167	+	Silent	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:2928167G>C	uc011mhj.1	+	2	189	c.189G>C	c.(187-189)CTG>CTC	p.L63L		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	63						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCTTCCTGACCGGCCGGT	0.502		NaN											0	0	0	0.115264	0	3	19				
KDM6A	7403	broad.mit.edu	37	X	44949073	44949073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:44949073C>T	uc004dge.3	+	25	4009	c.3634C>T	c.(3634-3636)CAG>TAG	p.Q1212*	KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q1264*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q1167*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q1219*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q916*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q851*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1212	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGGTTTATTCAGCGACCTGG	0.398		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.153744	0	32	6		Valid		
TFE3	7030	broad.mit.edu	37	X	48895739	48895739	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:48895739A>C	uc004dmb.3	-	4	1001	c.763T>G	c.(763-765)TCC>GCC	p.S255A	TFE3_uc004dmc.3_Missense_Mutation_p.S150A|TFE3_uc004dme.1_RNA	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	255					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						TCTGAGCTGGACCCGATGGTG	0.587		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								0	0	0	0.058154	0	9	19				
WNK3	65267	broad.mit.edu	37	X	54321194	54321194	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:54321194T>G	uc004dtd.1	-	8	1924	c.1485A>C	c.(1483-1485)AGA>AGC	p.R495S	WNK3_uc004dtc.1_Missense_Mutation_p.R495S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	495					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GCTTCTTCTCTCTTGTCTTCT	0.458		NaN											0	0	0	0.27861	0	8	24				
VSIG4	11326	broad.mit.edu	37	X	65253367	65253367	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:65253367C>G	uc004dwh.2	-	2	488	c.361G>C	c.(361-363)GAT>CAT	p.D121H	VSIG4_uc004dwi.2_Missense_Mutation_p.D121H|VSIG4_uc010nkq.1_Missense_Mutation_p.D121H|VSIG4_uc004dwj.2_Missense_Mutation_p.D121H|VSIG4_uc011moy.1_Missense_Mutation_p.D121H|VSIG4_uc004dwk.2_Missense_Mutation_p.D121H|VSIG4_uc004dwl.2_Missense_Mutation_p.D17H	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	121	Ig-like 1.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						TGGTTGCCATCAGGAGTCTGC	0.498		NaN											0	0	0	0.132662	0	13	115				
STAG2	10735	broad.mit.edu	37	X	123200110	123200110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:123200110C>T	uc004etz.3	+	21	2521	c.2182C>T	c.(2182-2184)CAG>TAG	p.Q728*	STAG2_uc004eua.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q728*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q728*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	728					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CATGCCTGAGCAGGTTTTTAT	0.303		NaN											0	0	0	0.323286	0	60	17		Valid		
C1orf86	199990	broad.mit.edu	37	1	2121153	2121153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:2121153A>G	uc001aiy.2	-	4	564	c.538T>C	c.(538-540)TGG>CGG	p.W180R	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron|uc001aiz.1_5'Flank	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	180											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGCGCTCACCACGTCACGTCT	0.706		NaN											0	0	0	0.020292	0	12	40				
SYF2	25949	broad.mit.edu	37	1	25551554	25551554	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:25551554G>A	uc001bjt.1	-	6	560	c.505C>T	c.(505-507)CAT>TAT	p.H169Y	SYF2_uc001bju.1_Missense_Mutation_p.H127Y	NM_015484	NP_056299	O95926	SYF2_HUMAN	SYF2 homolog, RNA splicing factor isoform 1	169						catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TGTGTTCCATGAAGAAGACTA	0.373		NaN											0	0	0	0.036044	0	33	79				
PIGV	55650	broad.mit.edu	37	1	27124128	27124128	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:27124128G>A	uc001bmz.2	+	4	1606	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	PIGV_uc001bmy.2_Silent_p.E190E|PIGV_uc009vso.2_Missense_Mutation_p.A419T|PIGV_uc010ofg.1_Silent_p.E190E|PIGV_uc001bna.2_Silent_p.E425E	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	425	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGATCAAGAGCCGCTGTTGA	0.488		NaN											0	0	0	0.016522	0	23	60				
ZMYM4	9202	broad.mit.edu	37	1	35864515	35864515	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:35864515C>T	uc001byt.2	+	22	3384	c.3304C>T	c.(3304-3306)CCA>TCA	p.P1102S	ZMYM4_uc009vuu.2_Missense_Mutation_p.P1070S|ZMYM4_uc001byu.2_Missense_Mutation_p.P778S|ZMYM4_uc009vuv.2_Missense_Mutation_p.P841S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1102					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTATCTACTCCACATAGCTG	0.398		NaN											0	0	0	0.008871	0	14	84				
LRRC41	10489	broad.mit.edu	37	1	46746098	46746098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:46746098C>T	uc001cpn.2	-	6	1935	c.1891G>A	c.(1891-1893)GAT>AAT	p.D631N	LRRC41_uc010omb.1_Missense_Mutation_p.D631N	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	631	LRR 4.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGCCCAAAATCCTGGGGAGAG	0.572		NaN											0	0	0	0.012319	0	19	103				
OSBPL9	114883	broad.mit.edu	37	1	52251500	52251500	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52251500C>G	uc001cst.2	+	21	1869	c.1850C>G	c.(1849-1851)TCT>TGT	p.S617C	OSBPL9_uc001css.2_Missense_Mutation_p.S622C|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S618C|OSBPL9_uc001csu.2_Missense_Mutation_p.S627C|OSBPL9_uc001csv.2_Missense_Mutation_p.S452C|OSBPL9_uc001csw.2_Missense_Mutation_p.S604C|OSBPL9_uc001csy.2_Missense_Mutation_p.S439C|OSBPL9_uc001csz.2_Missense_Mutation_p.S439C|OSBPL9_uc001cta.2_Missense_Mutation_p.S507C|OSBPL9_uc001ctb.2_Missense_Mutation_p.S402C	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	617					lipid transport		lipid binding			central_nervous_system(1)	1						GACAAGAAGTCTTTTTGCTCA	0.383		NaN											0	0	0	0.037714	0	23	113				
ZCCHC11	23318	broad.mit.edu	37	1	52991393	52991393	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52991393G>A	uc001ctx.2	-	2	794	c.560C>T	c.(559-561)TCC>TTC	p.S187F	ZCCHC11_uc001cty.2_Missense_Mutation_p.S187F|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S187F|ZCCHC11_uc009vze.1_Missense_Mutation_p.S187F|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.S187F|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.S187F	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	187					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGAAGTAAAGGAGCTTGGAAT	0.413		NaN											0	0	0	0.012213	0	29	144				
DOCK7	85440	broad.mit.edu	37	1	62993831	62993831	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:62993831G>A	uc001daq.2	-	31	3961	c.3927C>T	c.(3925-3927)CTC>CTT	p.L1309L	DOCK7_uc001dan.2_Silent_p.L1170L|DOCK7_uc001dao.2_Silent_p.L1170L|DOCK7_uc001dap.2_Silent_p.L1278L|DOCK7_uc001dam.2_Silent_p.L489L|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1309					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						CCGTTGACGTGAGGAGGAAAC	0.413		NaN											0	0	0	0.013537	0	11	58				
DNAJB4	11080	broad.mit.edu	37	1	78479241	78479241	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:78479241C>A	uc001dij.2	+	2	877	c.718C>A	c.(718-720)CAT>AAT	p.H240N	DNAJB4_uc010orn.1_Missense_Mutation_p.H125N	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	240					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						AGACAAAGATCATCCAAAATT	0.323		NaN											1	0	9.57634e-11	0.01892	1.06179e-10	20	92				
IFI44L	10964	broad.mit.edu	37	1	79102774	79102774	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:79102774C>G	uc010oro.1	+	6	1113	c.934C>G	c.(934-936)CTG>GTG	p.L312V	IFI44L_uc010orp.1_Missense_Mutation_p.L49V|IFI44L_uc010orq.1_Missense_Mutation_p.L49V	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	312						cytoplasm					0						CTCTCCATCTCTGAAGGACAG	0.368		NaN											0	0	0	0.030466	0	29	158				
CCBL2	56267	broad.mit.edu	37	1	89414843	89414843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:89414843C>T	uc001dmp.2	-	11	1449	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K	CCBL2_uc001dmq.2_Missense_Mutation_p.E324K|CCBL2_uc001dmr.2_Missense_Mutation_p.E194K	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	358					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAACACTTTCAAGTAAACGT	0.373		NaN											0	0	0	0.012319	0	18	73				
ABCD3	5825	broad.mit.edu	37	1	94933515	94933515	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:94933515G>C	uc001dqn.3	+	4	389	c.287G>C	c.(286-288)CGA>CCA	p.R96P	ABCD3_uc001dqm.3_Missense_Mutation_p.R96P|ABCD3_uc010oto.1_Missense_Mutation_p.R120P|ABCD3_uc010otp.1_Missense_Mutation_p.R23P|ABCD3_uc009wdr.2_Missense_Mutation_p.R96P	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	96	ABC transmembrane type-1.|Targeting to peroxisomes.|Helical; (Potential).|Interaction with PEX19.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTGGTGTCTCGAACATATTGT	0.313		NaN											0	0	0	0.008291	0	7	55				
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:103483426G>A	uc001dul.2	-	11	1681	c.1363C>T	c.(1363-1365)CCT>TCT	p.P455S	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P467S|COL11A1_uc001dun.2_Missense_Mutation_p.P416S|COL11A1_uc009weh.2_Missense_Mutation_p.P339S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	455	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418		NaN											0	0	0	0.01441	0	44	94				
NTNG1	22854	broad.mit.edu	37	1	108023313	108023313	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:108023313G>T	uc001dvh.3	+	8	2189	c.1471G>T	c.(1471-1473)GCA>TCA	p.A491S	NTNG1_uc001dvf.3_Missense_Mutation_p.A432S|NTNG1_uc010out.1_Missense_Mutation_p.A457S|NTNG1_uc001dvc.3_Missense_Mutation_p.A390S|NTNG1_uc001dvi.2_Silent_p.P58P|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R53L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	491					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGCCCGGCCGCATACACGGG	0.687		NaN											1	0	1.58986e-06	0.008291	1.67186e-06	7	50				
SYT6	148281	broad.mit.edu	37	1	114640500	114640500	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:114640500C>G	uc001eev.2	-	6	1360	c.1110_splice	c.e6-1	p.R370_splice	SYT6_uc001eeu.2_Splice_Site_p.R15_splice	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI						acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCCACTCTGAGGGAGAA	0.577		NaN											0	0	0	0.010504	0	15	77				
WDR3	10885	broad.mit.edu	37	1	118496158	118496158	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496158G>A	uc010oxe.1	+	21	2328	c.2262G>A	c.(2260-2262)GTG>GTA	p.V754V	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	754						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGAAACAGTGAAAGCAGTAA	0.333		NaN											0	0	0	0.010504	0	17	40				
WDR3	10885	broad.mit.edu	37	1	118496687	118496687	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496687G>A	uc010oxe.1	+	22	2392	c.2326G>A	c.(2326-2328)GAA>AAA	p.E776K	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	776						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAAAATGAAGGAACACAAAGC	0.398		NaN											0	0	0	0.017118	0	25	56				
RUSC1	23623	broad.mit.edu	37	1	155291967	155291967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155291967C>T	uc001fkj.2	+	2	632	c.403C>T	c.(403-405)CAG>TAG	p.Q135*	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.Q135*|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	135						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGCCCACCCTCAGCCCAGTAT	0.622		NaN											0	0	0	0.016723	0	11	70				
GON4L	54856	broad.mit.edu	37	1	155791331	155791331	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155791331G>A	uc001flz.2	-	5	994	c.897C>T	c.(895-897)ATC>ATT	p.I299I	GON4L_uc001fly.1_Silent_p.I299I|GON4L_uc009wrh.1_Silent_p.I299I|GON4L_uc001fma.1_Silent_p.I299I|GON4L_uc001fmc.2_Silent_p.I299I|GON4L_uc001fmd.3_Silent_p.I299I|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Silent_p.I127I|GON4L_uc001fmf.2_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	299					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCATTTGTGATTACTTCCT	0.393		NaN											0	0	0	0.028581	0	16	72				
TMCO1	54499	broad.mit.edu	37	1	165737466	165737466	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:165737466C>G	uc001gdj.3	-	2	260	c.111G>C	c.(109-111)AAG>AAC	p.K37N	TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Missense_Mutation_p.K25N|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	37	Potential.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTTCAGTCTCTTGTACTTGT	0.363		NaN											0	0	0	0.00308	0	6	41				
F5	2153	broad.mit.edu	37	1	169551671	169551671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:169551671G>A	uc001ggg.1	-	2	393	c.248C>T	c.(247-249)TCA>TTA	p.S83L	F5_uc010plr.1_Intron	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	83	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGCTTACCTGAAATGGTAGA	0.264		NaN											0	0	0	0.00308	0	8	16				
PAPPA2	60676	broad.mit.edu	37	1	176564245	176564245	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:176564245C>T	uc001gkz.2	+	3	2669	c.1505C>T	c.(1504-1506)ACA>ATA	p.T502I	PAPPA2_uc001gky.1_Missense_Mutation_p.T502I|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	502	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGTGGGCAAACAGTCTGTGAC	0.522		NaN											0	0	0	0.014758	0	4	39				
UCHL5	51377	broad.mit.edu	37	1	193020927	193020927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:193020927C>A	uc001gsm.2	-	2	228	c.97G>T	c.(97-99)GAA>TAA	p.E33*	UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Nonsense_Mutation_p.E33*|UCHL5_uc001gsq.2_Nonsense_Mutation_p.E33*|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_5'UTR	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	33					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3						CATATTTCTTCTACTTGGGCT	0.249		NaN											1	0	3.90053e-15	0.012213	4.36431e-15	23	101				
CRB1	23418	broad.mit.edu	37	1	197297651	197297651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:197297651C>T	uc001gtz.2	+	2	305	c.170C>T	c.(169-171)TCA>TTA	p.S57L	CRB1_uc010poz.1_5'UTR|CRB1_uc001gty.1_Missense_Mutation_p.S57L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S57L|CRB1_uc010ppb.1_Missense_Mutation_p.S57L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	57	Extracellular (Potential).|EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TGTTCTTGTTCAGACACAGCC	0.403		NaN											0	0	0	0.004482	0	9	44				
ZNF281	23528	broad.mit.edu	37	1	200377122	200377122	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:200377122C>T	uc001gve.2	-	2	1819	c.1712G>A	c.(1711-1713)GGT>GAT	p.G571D	ZNF281_uc001gvf.1_Missense_Mutation_p.G571D|ZNF281_uc001gvg.1_Missense_Mutation_p.G535D	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	571					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						AACACTGACACCTGCAGACTG	0.413		NaN											0	0	0	0.02938	0	5	18				
MYOG	4656	broad.mit.edu	37	1	203054922	203054922	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203054922C>A	uc001gzd.2	-	1	456	c.168G>T	c.(166-168)GGG>GGT	p.G56G		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	56					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCTCGGGGGTCCCCAGCCCCT	0.697		NaN											1	0	1.28384e-07	0.012319	1.37769e-07	17	48				
OPTC	26254	broad.mit.edu	37	1	203465269	203465269	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203465269C>T	uc001gzu.1	+	2	252	c.136C>T	c.(136-138)CTG>TTG	p.L46L		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	46						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTTCTGCCTCTGCGGAATGA	0.542		NaN											0	0	0	0.007413	0	16	51				
NFASC	23114	broad.mit.edu	37	1	204985457	204985457	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:204985457G>A	uc001hbj.2	+	30	3841	c.3513G>A	c.(3511-3513)CTG>CTA	p.L1171L	NFASC_uc010pra.1_Silent_p.L1105L|NFASC_uc001hbi.2_Silent_p.L1100L|NFASC_uc010prb.1_Silent_p.L1120L|NFASC_uc010prc.1_Silent_p.L671L|NFASC_uc001hbl.1_Silent_p.L247L|NFASC_uc001hbm.1_Silent_p.L194L|NFASC_uc009xbh.1_Missense_Mutation_p.C26Y|NFASC_uc001hbo.1_Missense_Mutation_p.C47Y	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1278	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAAGCCCCTGCAGGGCAGTC	0.592		NaN											0	0	0	0.01441	0	54	156				
FAIM3	9214	broad.mit.edu	37	1	207087417	207087417	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207087417G>A	uc001hey.2	-	2	239	c.60C>T	c.(58-60)CTC>CTT	p.L20L	FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_5'UTR|FAIM3_uc010psb.1_Silent_p.L20L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	20	Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					TTACTTCTGGGAGGATCCTCA	0.418		NaN											0	0	0	0.008871	0	19	86				
CR2	1380	broad.mit.edu	37	1	207640030	207640030	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207640030G>T	uc001hfw.2	+	2	312	c.218G>T	c.(217-219)GGA>GTA	p.G73V	CR2_uc001hfv.2_Missense_Mutation_p.G73V|CR2_uc009xch.2_Missense_Mutation_p.G73V	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	73	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						AAAGTGGATGGAACCTGGGAT	0.408		NaN											1	0	3.27435e-08	0.020292	3.5448e-08	14	60				
MARK1	4139	broad.mit.edu	37	1	220792050	220792050	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:220792050C>A	uc001hmn.3	+	9	1459	c.862C>A	c.(862-864)CTG>ATG	p.L288M	MARK1_uc009xdw.2_Missense_Mutation_p.L288M|MARK1_uc010pun.1_Missense_Mutation_p.L288M|MARK1_uc001hmm.3_Missense_Mutation_p.L266M	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	288	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAATCTTCTGAAGAAATT	0.328		NaN											1	0	0.00010058	0.013537	0.000103688	10	52				
TTC13	79573	broad.mit.edu	37	1	231076227	231076227	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:231076227G>A	uc001huf.3	-	7	779	c.748C>T	c.(748-750)CGG>TGG	p.R250W	TTC13_uc009xfi.2_Missense_Mutation_p.R197W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R197W|TTC13_uc009xfk.1_Missense_Mutation_p.R140W	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	250	TPR 3.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGTACAGCCGTGCTGAGGGC	0.423		NaN											0	0	0	0.020292	0	12	52				
KCNK1	3775	broad.mit.edu	37	1	233807173	233807173	+	Missense_Mutation	SNP	C	C	T	rs149408317		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:233807173C>T	uc010pxo.1	+	3	1076	c.908C>T	c.(907-909)TCG>TTG	p.S303L	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	303	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCTTCTCCTCGATCACAGAC	0.493		NaN											0	0	0	0.024245	0	15	31				
CEP170	9859	broad.mit.edu	37	1	243349256	243349256	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:243349256G>A	uc001hzs.2	-	10	1799	c.1391C>T	c.(1390-1392)TCA>TTA	p.S464L	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	464						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGACTCCCTGAACTTCTTAA	0.418		NaN											0	0	0	0.009096	0	4	43				
KIF26B	55083	broad.mit.edu	37	1	245582962	245582962	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245582962G>A	uc001ibf.1	+	4	1521	c.1081G>A	c.(1081-1083)GCC>ACC	p.A361T	KIF26B_uc010pyq.1_Missense_Mutation_p.A361T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	361					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAAGCCTTCCGCCTGCAGTGT	0.572		NaN											0	0	0	0.007413	0	15	56				
KIF26B	55083	broad.mit.edu	37	1	245865906	245865906	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245865906T>C	uc001ibf.1	+	15	6765	c.6325T>C	c.(6325-6327)TAG>CAG	p.*2109Q		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2109					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGGCGCCGGTAGATGAGCCA	0.597		NaN											0	0	0	0.037714	0	19	55				
OR2W3	343171	broad.mit.edu	37	1	248059565	248059565	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:248059565T>G	uc001idp.1	+	3	946	c.677T>G	c.(676-678)TTA>TGA	p.L226*	OR2W3_uc010pzb.1_Nonsense_Mutation_p.L226*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGCTGTGTTACAAATTCGG	0.532		NaN											0	0	0	0.011902	0	35	108				
ADARB2	105	broad.mit.edu	37	10	1405318	1405318	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:1405318G>A	uc009xhq.2	-	3	1356	c.982C>T	c.(982-984)CGG>TGG	p.R328W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	328	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGACCCCGGGCCAGCTTC	0.726		NaN											0	0	0	0.00308	0	5	9				
SVIL	6840	broad.mit.edu	37	10	29840096	29840096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840096G>A	uc001iut.1	-	6	1010	c.257C>T	c.(256-258)TCA>TTA	p.S86L	SVIL_uc001iuu.1_Missense_Mutation_p.S86L|SVIL_uc009xld.1_Missense_Mutation_p.S86L	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	86	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ACCATAGGGTGAGTCACCGTG	0.493		NaN											0	0	0	0.007413	0	16	95				
SVIL	6840	broad.mit.edu	37	10	29840154	29840154	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840154G>T	uc001iut.1	-	6	952	c.199C>A	c.(199-201)CTA>ATA	p.L67I	SVIL_uc001iuu.1_Missense_Mutation_p.L67I|SVIL_uc009xld.1_Missense_Mutation_p.L67I	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	67	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGCTTTTCTAGAGAAGAATCA	0.463		NaN											1	0	4.7546e-09	0.028581	5.20878e-09	12	47				
LRRTM3	347731	broad.mit.edu	37	10	68687354	68687354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:68687354G>C	uc001jmz.1	+	2	1230	c.680G>C	c.(679-681)AGG>ACG	p.R227T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R227T	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	227	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CTTTTTCCAAGGTTGGTCAGC	0.453		NaN											0	0	0	0.024334	0	20	107				
TSPAN15	23555	broad.mit.edu	37	10	71265936	71265936	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71265936C>G	uc001jpo.1	+	7	800	c.675C>G	c.(673-675)ATC>ATG	p.I225M		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	225	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0						CCGTGATCATCTGGTTCATGG	0.597		NaN											0	0	0	0.01441	0	102	76				
COL13A1	1305	broad.mit.edu	37	10	71562459	71562459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71562459C>T	uc001jpr.1	+	1	816	c.280C>T	c.(280-282)CAA>TAA	p.Q94*	COL13A1_uc001jqj.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jps.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpt.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpu.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpv.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpx.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpw.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpy.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jpz.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqa.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqc.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqb.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jql.2_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqd.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqe.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqf.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqg.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqh.1_Nonsense_Mutation_p.Q94*|COL13A1_uc001jqi.1_Nonsense_Mutation_p.Q94*	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	94	Extracellular (Potential).|Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACGAGTCAATCAACTGCTGGA	0.662		NaN											0	0	0	0.015359	0	32	404				
KCNMA1	3778	broad.mit.edu	37	10	78729810	78729810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:78729810G>A	uc001jxn.2	-	20	2459	c.2282C>T	c.(2281-2283)CCG>CTG	p.P761L	KCNMA1_uc001jxj.2_Missense_Mutation_p.P707L|KCNMA1_uc001jxk.1_Missense_Mutation_p.P379L|KCNMA1_uc009xrt.1_Missense_Mutation_p.P552L|KCNMA1_uc001jxl.1_Missense_Mutation_p.P386L|KCNMA1_uc001jxo.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxm.2_Missense_Mutation_p.P703L|KCNMA1_uc001jxq.2_Missense_Mutation_p.P706L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	761	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAGTGTTGACGGCTGCTCATC	0.483		NaN											0	0	0	0.014758	0	4	67				
BTAF1	9044	broad.mit.edu	37	10	93749199	93749199	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:93749199C>A	uc001khr.2	+	20	2814	c.2716C>A	c.(2716-2718)CAG>AAG	p.Q906K	BTAF1_uc001khs.1_Missense_Mutation_p.Q576K|BTAF1_uc001kht.1_Missense_Mutation_p.Q344K	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	906	HEAT 6.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TAAACTCCTTCAGCAGTGCAC	0.378		NaN											1	0	1.58986e-06	0.008291	1.67186e-06	9	41				
C10orf76	79591	broad.mit.edu	37	10	103783474	103783474	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:103783474G>A	uc009xwy.1	-	7	642	c.540C>T	c.(538-540)CTC>CTT	p.L180L		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	180						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTACATACTCGAGAATAGTGT	0.383		NaN											0	0	0	0.012213	0	26	149				
SORCS3	22986	broad.mit.edu	37	10	106737176	106737176	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:106737176C>T	uc001kyi.1	+	4	1106	c.879C>T	c.(877-879)CTC>CTT	p.L293L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	293	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTATCGGCTCACCTTCTATA	0.443		NaN											0	0	0	0.007413	0	17	42				
NRIP3	56675	broad.mit.edu	37	11	9009806	9009807	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:9009806_9009807CC>AA	uc001mhg.2	-	2	311_312	c.197_198GG>TT	c.(196-198)AGG>ATT	p.R66I	NRIP3_uc010rbu.1_Missense_Mutation_p.R66I	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	66					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCATGAGGCGCCTCTGCAGAAT	0.51		NaN											0	0	0	0.004672	0	17	56				
GTF2H1	2965	broad.mit.edu	37	11	18362845	18362845	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:18362845G>C	uc001moi.2	+	7	1339	c.645G>C	c.(643-645)ATG>ATC	p.M215I	GTF2H1_uc001moh.2_Missense_Mutation_p.M215I|GTF2H1_uc009yhm.2_Missense_Mutation_p.M99I	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1,	215	BSD 2.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding				0						CCCACAACATGACAGAGAAGG	0.358		NaN						NER					0	0	0	0.01892	0	22	59				
NAV2	89797	broad.mit.edu	37	11	20089894	20089894	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:20089894G>A	uc010rdm.1	+	24	5462	c.5101G>A	c.(5101-5103)GAT>AAT	p.D1701N	NAV2_uc001mpp.2_Missense_Mutation_p.D1581N|NAV2_uc001mpr.3_Missense_Mutation_p.D1645N|NAV2_uc001mpt.2_Missense_Mutation_p.D694N|NAV2_uc009yhx.2_Missense_Mutation_p.D709N|NAV2_uc009yhy.1_Missense_Mutation_p.D607N|NAV2_uc009yhz.2_Missense_Mutation_p.D290N|NAV2_uc001mpu.2_Missense_Mutation_p.D83N	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1701	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCGGGAACTGGATGCCTCCCA	0.502		NaN											0	0	0	0.01441	0	63	127				
EXT2	2132	broad.mit.edu	37	11	44097105	44097105	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:44097105C>G	uc010rfo.1	+	1	30	c.17C>G	c.(16-18)TCT>TGT	p.S6C	ACCS_uc010rfm.1_Silent_p.L100L|ACCS_uc009yks.1_Silent_p.L173L|ACCS_uc010rfn.1_Missense_Mutation_p.L150V|ACCS_uc001mxx.2_Silent_p.L173L	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						GTGCCTCGCTCTTCTCTGCTC	0.602		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				0	0	0	0.024245	0	12	74				
CKAP5	9793	broad.mit.edu	37	11	46783565	46783565	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:46783565G>A	uc001ndi.1	-	32	4316	c.4206C>T	c.(4204-4206)TTC>TTT	p.F1402F	CKAP5_uc009ylg.1_Silent_p.F1288F|CKAP5_uc001ndj.1_Silent_p.F1402F|CKAP5_uc001ndh.1_Silent_p.F331F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1402					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CAATCAGTTTGAACACCTGAT	0.443		NaN											0	0	0	0.034045	0	26	100				
OR4C13	283092	broad.mit.edu	37	11	49974700	49974700	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:49974700C>G	uc010rhz.1	+	1	726	c.726C>G	c.(724-726)ATC>ATG	p.I242M		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TCTCCCACATCACAGTTGTCA	0.463		NaN											0	0	0	0.01892	0	21	122				
MARK2	2011	broad.mit.edu	37	11	63668461	63668461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:63668461G>T	uc001nxw.2	+	11	1600	c.1021G>T	c.(1021-1023)GAG>TAG	p.E341*	MARK2_uc001nxx.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxy.2_Nonsense_Mutation_p.E341*|MARK2_uc001nxv.3_Nonsense_Mutation_p.E341*|MARK2_uc001nxz.3_Nonsense_Mutation_p.E308*|MARK2_uc009yoy.2_Nonsense_Mutation_p.E308*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	341	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						TACACGGGAAGAGATCCAGGA	0.577		NaN											1	0	1.08611e-07	0.010729	1.16892e-07	10	96				
SUV420H1	51111	broad.mit.edu	37	11	67957497	67957497	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:67957497C>G	uc001onm.1	-	2	303	c.47G>C	c.(46-48)AGA>ACA	p.R16T	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R16T|SUV420H1_uc001onp.2_Missense_Mutation_p.R16T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R16T|SUV420H1_uc001onq.2_Missense_Mutation_p.R16T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GCCTCCATTTCTCCTGCCATT	0.478		NaN											0	0	0	0.01441	0	58	292				
ARAP1	116985	broad.mit.edu	37	11	72418281	72418281	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:72418281C>T	uc001osu.2	-	12	1851	c.1662G>A	c.(1660-1662)GGG>GGA	p.G554G	ARAP1_uc001osv.2_Silent_p.G554G|ARAP1_uc001osr.2_Silent_p.G314G|ARAP1_uc001oss.2_Silent_p.G309G|ARAP1_uc009yth.2_Silent_p.G309G|ARAP1_uc010rre.1_Silent_p.G309G	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	554	C4-type.|Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GCTGAGGAGCCCCGCAGTCAG	0.647		NaN											0	0	0	0.00308	0	7	10				
THRSP	7069	broad.mit.edu	37	11	77775045	77775045	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:77775045G>A	uc001oyx.2	+	1	139	c.118G>A	c.(118-120)GTG>ATG	p.V40M		NM_003251	NP_003242	Q92748	THRSP_HUMAN	thyroid hormone-responsive protein	40					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(1)	1	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TCTGCGGGACGTGCAGCTGAG	0.617		NaN											0	0	0	0.014323	0	21	110				
PRCP	5547	broad.mit.edu	37	11	82560964	82560964	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:82560964G>C	uc001ozs.2	-	5	856	c.743C>G	c.(742-744)TCA>TGA	p.S248*	PRCP_uc001ozr.2_Nonsense_Mutation_p.S269*	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	248	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						ACCAGTATTTGAGAGTCGATT	0.338		NaN											0	0	0	0.016723	0	9	99				
CCDC81	60494	broad.mit.edu	37	11	86133623	86133623	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:86133623G>A	uc001pbx.1	+	15	2253	c.1825G>A	c.(1825-1827)GAC>AAC	p.D609N	CCDC81_uc001pbw.1_Missense_Mutation_p.D519N|CCDC81_uc010rtq.1_Missense_Mutation_p.D392N|CCDC81_uc001pby.1_Missense_Mutation_p.D344N	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	609										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAGGGCTTCAGACAAGCTGTT	0.562		NaN											0	0	0	0.013726	0	28	76				
FAT3	120114	broad.mit.edu	37	11	92616453	92616453	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:92616453G>A	uc001pdj.3	+	23	12848	c.12831G>A	c.(12829-12831)CGG>CGA	p.R4277R	FAT3_uc001pdi.3_Silent_p.R717R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4277	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGCCCGGCGGGGCGTGG	0.662		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.012213	0	28	96				
KIAA1377	57562	broad.mit.edu	37	11	101857622	101857622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:101857622G>T	uc001pgm.2	+	9	3364	c.3094G>T	c.(3094-3096)GAG>TAG	p.E1032*	KIAA1377_uc001pgn.2_Nonsense_Mutation_p.E988*|KIAA1377_uc010run.1_Nonsense_Mutation_p.E833*	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	1032							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCAGTGCCGGAGGATGAGAT	0.363		NaN											1	0	8.73484e-25	0.01441	9.95555e-25	54	144				
ALG9	79796	broad.mit.edu	37	11	111680410	111680410	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:111680410C>G	uc001pmb.2	-	15	1768	c.1669G>C	c.(1669-1671)GAA>CAA	p.E557Q	ALG9_uc001ply.2_Missense_Mutation_p.E386Q|ALG9_uc001plz.2_Missense_Mutation_p.E393Q|ALG9_uc010rwm.1_Missense_Mutation_p.E564Q|ALG9_uc010rwn.1_Missense_Mutation_p.E511Q|ALG9_uc010rwo.1_Missense_Mutation_p.E385Q	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	557	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTGATCCATTCTTCTTTATTG	0.388		NaN											0	0	0	0.028581	0	14	70				
DSCAML1	57453	broad.mit.edu	37	11	117391942	117391942	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:117391942G>T	uc001prh.1	-	6	1298	c.1296C>A	c.(1294-1296)CTC>CTA	p.L432L	DSCAML1_uc001pri.1_Silent_p.L236L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	372	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGAGGTGATGAGCAGCGTCT	0.637		NaN											1	0	2.27781e-18	0.01441	2.58011e-18	44	117				
ETS1	2113	broad.mit.edu	37	11	128354930	128354930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128354930G>A	uc010sbs.1	-	5	834	c.518C>T	c.(517-519)TCG>TTG	p.S173L	ETS1_uc001qej.2_Missense_Mutation_p.S217L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S173L	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	173					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483		NaN											0	0	0	0.023175	0	29	179				
ARHGAP32	9743	broad.mit.edu	37	11	128842725	128842725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128842725G>A	uc009zcp.2	-	21	3634	c.3634C>T	c.(3634-3636)CAG>TAG	p.Q1212*	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Nonsense_Mutation_p.Q171*|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.Q863*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1212					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAAGGAGGCTGATCTCCACTG	0.453		NaN											0	0	0	0.0333	0	16	37				
IGSF9B	22997	broad.mit.edu	37	11	133814125	133814125	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:133814125G>A	uc001qgx.3	-	3	630	c.399C>T	c.(397-399)CTC>CTT	p.L133L	IGSF9B_uc001qgz.2_RNA	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	133	Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTTGATGGTGAGGTGGACCC	0.602		NaN											0	0	0	0.006214	0	7	25				
GLB1L3	112937	broad.mit.edu	37	11	134162074	134162074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:134162074G>A	uc009zdf.2	+	8	1138	c.778G>A	c.(778-780)GAG>AAG	p.E260K	GLB1L3_uc010scs.1_Missense_Mutation_p.E260K|GLB1L3_uc010sct.1_Missense_Mutation_p.E112K|GLB1L3_uc010scu.1_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	260					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCTGATGGTGAGAAACATGT	0.473		NaN											0	0	0	0.008871	0	15	26				
CACNA1C	775	broad.mit.edu	37	12	2676892	2676892	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:2676892G>C	uc009zdu.1	+	13	2140	c.1827G>C	c.(1825-1827)AAG>AAC	p.K609N	CACNA1C_uc009zdv.1_Missense_Mutation_p.K606N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkc.2_Missense_Mutation_p.K609N|CACNA1C_uc001qke.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K609N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K609N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K609N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K609N|CACNA1C_uc001qko.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K609N|CACNA1C_uc001qku.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K609N|CACNA1C_uc001qks.2_Missense_Mutation_p.K609N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K609N|CACNA1C_uc001qka.1_Missense_Mutation_p.K144N|CACNA1C_uc001qki.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkj.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkk.1_Missense_Mutation_p.K345N|CACNA1C_uc001qkm.1_Missense_Mutation_p.K345N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	609	II.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGAGACCAAGATCATGTCCC	0.587		NaN											0	0	0	0.009096	0	4	39				
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:6952355C>T	uc001qrd.2	+	6	626	c.221C>T	c.(220-222)TCG>TTG	p.S74L	GNB3_uc001qrc.2_Missense_Mutation_p.S30L|GNB3_uc009zfe.2_Missense_Mutation_p.S74L	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	74	WD 1.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GTAAGTGCCTCGCAAGATGGG	0.612		NaN											0	0	0	0.023175	0	33	219				
SLC2A3	6515	broad.mit.edu	37	12	8078455	8078455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:8078455G>C	uc001qtr.2	-	7	1213	c.951C>G	c.(949-951)ATC>ATG	p.I317M		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	317	Helical; Name=8; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		CTACAGTGAAGATAGTATTAA	0.433		NaN											0	0	0	0.008871	0	16	163				
ABCC9	10060	broad.mit.edu	37	12	22068679	22068679	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:22068679C>A	uc001rfi.1	-	5	759	c.739G>T	c.(739-741)GCA>TCA	p.A247S	ABCC9_uc001rfh.2_Missense_Mutation_p.A247S|ABCC9_uc001rfj.1_Missense_Mutation_p.A247S	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	247	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTCCAATTGCCTTCAGATCA	0.363		NaN											1	0	9.24413e-38	0.01441	1.07361e-37	92	72				
FGD4	121512	broad.mit.edu	37	12	32729320	32729320	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32729320C>G	uc001rkz.2	+	3	506	c.29C>G	c.(28-30)TCT>TGT	p.S10C	FGD4_uc001rlc.2_Missense_Mutation_p.S95C|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.S122C|FGD4_uc001rkx.3_Missense_Mutation_p.S10C	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	10	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCCTCTGCTTCTTGTGTCTCA	0.443		NaN											0	0	0	0.014323	0	18	68				
ADAMTS20	80070	broad.mit.edu	37	12	43750291	43750291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43750291G>A	uc010skx.1	-	38	5639	c.5639C>T	c.(5638-5640)TCA>TTA	p.S1880L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1880	GON.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTACCTCTGATCTTCGTAT	0.408		NaN											0	0	0	0.021553	0	5	9				
ADAMTS20	80070	broad.mit.edu	37	12	43822323	43822323	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43822323G>A	uc010skx.1	-	26	3666	c.3666C>T	c.(3664-3666)TCC>TCT	p.S1222S	ADAMTS20_uc001rno.1_Silent_p.S340S|ADAMTS20_uc001rnp.1_Silent_p.S376S	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1222	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGGCCACAGGAAGCTGAAC	0.308		NaN											0	0	0	0.00308	0	7	15				
SENP1	29843	broad.mit.edu	37	12	48482596	48482596	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:48482596C>T	uc001rqx.2	-	5	814	c.368G>A	c.(367-369)CGA>CAA	p.R123Q	SENP1_uc001rqw.2_Missense_Mutation_p.R123Q|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.R123Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	123	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGAGGTCTTTCGGGTTTCGAG	0.403		NaN											0	0	0	0.02938	0	5	6				
METTL7A	25840	broad.mit.edu	37	12	51319031	51319031	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319031G>A	uc001rxb.2	+	1	498	c.210G>A	c.(208-210)GGG>GGA	p.G70G	METTL7A_uc010smv.1_Silent_p.G70G	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	70						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						GCCCCTCCGGGAAACTCTCCC	0.562		NaN											0	0	0	0.014758	0	4	24				
METTL7A	25840	broad.mit.edu	37	12	51319142	51319142	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319142G>A	uc001rxb.2	+	1	609	c.321G>A	c.(319-321)TTG>TTA	p.L107L	METTL7A_uc010smv.1_Intron	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	107						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						AGAAGTTTTTGATCAAGAGCA	0.557		NaN											0	0	0	0.013537	0	11	44				
ZNF740	283337	broad.mit.edu	37	12	53579200	53579200	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:53579200G>A	uc001scb.3	+	4	583	c.189G>A	c.(187-189)CGG>CGA	p.R63R		NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding				0						ATAAGTCCCGGAGCCGCAAAG	0.453		NaN											0	0	0	0.013537	0	10	22				
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56482341G>T	uc001sjh.2	+	8	1082	c.889G>T	c.(889-891)GAT>TAT	p.D297Y	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	297	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512		NaN											1	0	4.0181e-32	0.01441	4.65187e-32	41	169		Valid		
CS	1431	broad.mit.edu	37	12	56667506	56667506	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56667506C>T	uc001sks.1	-	10	1285	c.1095G>A	c.(1093-1095)CTG>CTA	p.L365L	CS_uc010sql.1_Silent_p.L352L|CS_uc001skr.1_Silent_p.L299L|CS_uc001skt.1_Silent_p.L320L|CS_uc010sqm.1_3'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	365					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCAGGTGTTTCAGAGCAAACT	0.468		NaN											0	0	0	0.009535	0	25	86				
GLIPR1	11010	broad.mit.edu	37	12	75875733	75875733	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:75875733G>C	uc001sxs.2	+	2	442	c.294G>C	c.(292-294)GAG>GAC	p.E98D	GLIPR1_uc009zsb.1_Missense_Mutation_p.E98D	NM_006851	NP_006842	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1 precursor	98					cellular lipid metabolic process	extracellular region|integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3						CACTGGGAGAGAACATCTGGA	0.483		NaN											0	0	0	0.01892	0	19	78				
NAV3	89795	broad.mit.edu	37	12	78513485	78513485	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:78513485C>G	uc001syp.2	+	15	3682	c.3509C>G	c.(3508-3510)TCT>TGT	p.S1170C	NAV3_uc001syo.2_Missense_Mutation_p.S1170C|NAV3_uc010sub.1_Missense_Mutation_p.S670C|NAV3_uc009zsf.2_Missense_Mutation_p.S178C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1170	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGCAGCAAGTCTGCTGGGGCC	0.537		NaN								HNSCC(70;0.22)			0	0	0	0.004482	0	8	41				
ACSS3	79611	broad.mit.edu	37	12	81503360	81503360	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:81503360C>T	uc001szl.1	+	2	424	c.333C>T	c.(331-333)AAC>AAT	p.N111N	ACSS3_uc001szm.1_Silent_p.N110N	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GAATGCTTAACATTTGTTACA	0.313		NaN											0	0	0	0.006214	0	7	61				
TMTC3	160418	broad.mit.edu	37	12	88584258	88584258	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:88584258G>A	uc001tau.2	+	12	1785	c.1565G>A	c.(1564-1566)AGA>AAA	p.R522K		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	522						integral to membrane	binding			skin(1)	1						TATGCAGCCAGAATTGCCCCT	0.373		NaN											0	0	0	0.028581	0	11	68				
MTERFD3	80298	broad.mit.edu	37	12	107372423	107372423	+	Missense_Mutation	SNP	G	G	C	rs139694986	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:107372423G>C	uc001tme.1	-	2	1889	c.70C>G	c.(70-72)CCA>GCA	p.P24A	MTERFD3_uc001tmf.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmg.1_Missense_Mutation_p.P24A|MTERFD3_uc001tmh.1_Missense_Mutation_p.P24A	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding				0						CTGTATTTTGGAGGTGATCGC	0.433		NaN											0	0	0	0.021553	0	6	47				
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:109702924G>C	uc001tob.2	+	51	7071	c.6952G>C	c.(6952-6954)GAG>CAG	p.E2318Q	ACACB_uc001toc.2_Missense_Mutation_p.E2318Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E984Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2318					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647		NaN											0	0	0	0.01441	0	51	131				
GCN1L1	10985	broad.mit.edu	37	12	120576588	120576588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:120576588C>T	uc001txo.2	-	46	6080	c.6067G>A	c.(6067-6069)GAG>AAG	p.E2023K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2023	HEAT 17.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGCCGCCTCTCTGACCTCC	0.547		NaN											0	0	0	0.01441	0	63	151				
RILPL1	353116	broad.mit.edu	37	12	123970241	123970241	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:123970241C>T	uc001ufe.2	-	5	1149	c.913G>A	c.(913-915)GAG>AAG	p.E305K	RILPL1_uc001ufd.2_Missense_Mutation_p.E154K|RILPL1_uc010tas.1_Missense_Mutation_p.E305K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	305	RILP-like.				neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCGTTCCTCTCGTGCAGCACG	0.622		NaN											0	0	0	0.004482	0	6	47				
TMEM132B	114795	broad.mit.edu	37	12	125834138	125834138	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:125834138A>G	uc001uhe.1	+	2	201	c.193A>G	c.(193-195)AGT>GGT	p.S65G		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	65	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAACTCCAGTCTGCAGGC	0.522		NaN											0	0	0	0.037714	0	22	137				
POLE	5426	broad.mit.edu	37	12	133252767	133252767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133252767C>G	uc001uks.1	-	10	977	c.933G>C	c.(931-933)GAG>GAC	p.E311D	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E284D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	311					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGAAACAATCTCCCTGTTGG	0.478		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.004482	0	7	68				
CHFR	55743	broad.mit.edu	37	12	133433181	133433181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133433181C>G	uc001ulf.2	-	10	1222	c.1138G>C	c.(1138-1140)GAT>CAT	p.D380H	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D368H|CHFR_uc010tbs.1_Missense_Mutation_p.D380H|CHFR_uc001uld.2_Missense_Mutation_p.D339H|CHFR_uc010tbt.1_Missense_Mutation_p.D288H	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	380					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TTTCTGGCATCCATACTTTGC	0.493		NaN											0	0	0	0.01441	0	61	199				
IFT88	8100	broad.mit.edu	37	13	21212522	21212522	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:21212522G>C	uc001unh.2	+	19	1861	c.1465G>C	c.(1465-1467)GAT>CAT	p.D489H	IFT88_uc001uni.2_Missense_Mutation_p.D480H|IFT88_uc001unj.2_Missense_Mutation_p.D479H|IFT88_uc010tcq.1_Missense_Mutation_p.D460H|IFT88_uc001unk.2_Missense_Mutation_p.D235H	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	489	TPR 6.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGTGAACTCTGATAGATATAA	0.338		NaN											0	0	0	0.020292	0	10	108				
FRY	10129	broad.mit.edu	37	13	32841395	32841395	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:32841395G>A	uc001utx.2	+	55	8531	c.8035G>A	c.(8035-8037)GAT>AAT	p.D2679N	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.D234N|FRY_uc001utz.2_Missense_Mutation_p.D204N|FRY_uc010tdx.1_Missense_Mutation_p.D49N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCTGTGACGATGCCGAGGA	0.547		NaN											0	0	0	0.01892	0	25	118				
MED4	29079	broad.mit.edu	37	13	48660459	48660459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:48660459G>A	uc001vby.1	-	3	348	c.322C>T	c.(322-324)CAG>TAG	p.Q108*	MED4_uc010tge.1_Nonsense_Mutation_p.Q108*|MED4_uc010tgf.1_Nonsense_Mutation_p.Q62*	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	108	Potential.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TGTAGCTGCTGAATATCACTG	0.338		NaN											0	0	0	0.012319	0	18	99				
RB1	5925	broad.mit.edu	37	13	49027133	49027133	+	Missense_Mutation	SNP	C	C	T	rs137853292		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027133C>T	uc001vcb.2	+	18	1866	c.1700C>T	c.(1699-1701)TCA>TTA	p.S567L		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)|p.S567*(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATATAGGATTCACCTTTATTT	0.333		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.0333	0	16	34		Valid		
RB1	5925	broad.mit.edu	37	13	49027219	49027219	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027219C>G	uc001vcb.2	+	18	1952	c.1786C>G	c.(1786-1788)CTC>GTC	p.L596V		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	596	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATCTTCCTCTCCAGAATAA	0.338		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.010818	0	27	50		Valid		
OLFM4	10562	broad.mit.edu	37	13	53602986	53602986	+	Silent	SNP	C	C	T	rs149259735		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:53602986C>T	uc001vhl.2	+	1	15	c.15C>T	c.(13-15)CTC>CTT	p.L5L	OLFM4_uc001vhk.1_Silent_p.L5L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	5					cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GGCCCGGCCTCTCATTTCTCC	0.592		NaN											0	0	0	0.01441	0	56	121				
MYCBP2	23077	broad.mit.edu	37	13	77786175	77786175	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:77786175G>T	uc001vkf.2	-	23	3155	c.3064C>A	c.(3064-3066)CAA>AAA	p.Q1022K	MYCBP2_uc010aev.2_Missense_Mutation_p.Q426K	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1022	RCC1 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAAAAAGTTTGGTCCCCACTT	0.358		NaN											1	0	0.000602214	0.014758	0.000617354	5	57				
ADCY4	196883	broad.mit.edu	37	14	24801042	24801042	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:24801042G>T	uc001wov.2	-	4	627	c.621C>A	c.(619-621)CTC>CTA	p.L207L	ADCY4_uc001wow.2_Silent_p.L207L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.L207L|ADCY4_uc001woy.2_Silent_p.L207L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	207	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GCAGGGAGCTGAGTGCCTCCC	0.567		NaN											1	0	5.9392e-07	0.021553	6.31793e-07	4	30				
NFKBIA	4792	broad.mit.edu	37	14	35873730	35873730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:35873730C>T	uc001wtf.3	-	1	231	c.121G>A	c.(121-123)GAG>AAG	p.E41K	NFKBIA_uc001wte.3_5'Flank|NFKBIA_uc001wtg.3_Missense_Mutation_p.E41K|NFKBIA_uc010amo.2_RNA	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	41					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TGCTCGTACTCCTCGTCTTTC	0.687		NaN											0	0	0	0.021553	0	6	16				
TXNDC16	57544	broad.mit.edu	37	14	52922155	52922155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:52922155G>A	uc001wzs.2	-	18	2178	c.1729C>T	c.(1729-1731)CCA>TCA	p.P577S	TXNDC16_uc010tqu.1_Missense_Mutation_p.P572S|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	577					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					AGCAGGGCTGGAAGACTTGCA	0.418		NaN											0	0	0	0.01441	0	57	54				
DLGAP5	9787	broad.mit.edu	37	14	55618599	55618599	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:55618599G>C	uc001xbs.2	-	17	2399	c.2182C>G	c.(2182-2184)CTT>GTT	p.L728V	DLGAP5_uc001xbt.2_Missense_Mutation_p.L728V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	728					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						CCAGCAAGAAGAGGCAAACTC	0.328		NaN											0	0	0	0.011902	0	43	43				
DAAM1	23002	broad.mit.edu	37	14	59835468	59835468	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:59835468G>T	uc001xdz.1	+	26	3253	c.3128G>T	c.(3127-3129)GGA>GTA	p.G1043V	DAAM1_uc001xea.1_Missense_Mutation_p.G1033V|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	1043	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTACGCTCAGGAGAAGTGTTT	0.403		NaN											1	0	2.54651e-27	0.027894	2.92968e-27	38	27				
MTMR10	54893	broad.mit.edu	37	15	31233969	31233969	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:31233969G>A	uc001zfh.1	-	16	2136	c.2038C>T	c.(2038-2040)CAC>TAC	p.H680Y	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.H94Y|MTMR10_uc001zfg.1_Missense_Mutation_p.H261Y|MTMR10_uc010azx.1_Missense_Mutation_p.H432Y|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	680							phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GAGAGCTTGTGAAAGGCTGTG	0.602		NaN											0	0	0	0.028581	0	14	19				
STRC	161497	broad.mit.edu	37	15	43910137	43910137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:43910137C>T	uc001zsf.2	-	2	560	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Missense_Mutation_p.C87Y	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	161					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATCACGGGTGCATGGGGGCCG	0.637		NaN											0	0	0	0.007413	0	13	122				
SEMA6D	80031	broad.mit.edu	37	15	48052505	48052505	+	Silent	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:48052505A>T	uc010bek.2	+	3	474	c.114A>T	c.(112-114)TCA>TCT	p.S38S	SEMA6D_uc001zvw.2_Silent_p.S38S|SEMA6D_uc001zvx.1_Silent_p.S38S|SEMA6D_uc001zvy.2_Silent_p.S38S|SEMA6D_uc001zvz.2_Silent_p.S38S|SEMA6D_uc001zwa.2_Silent_p.S38S|SEMA6D_uc001zwb.2_Silent_p.S38S|SEMA6D_uc001zwc.2_Silent_p.S38S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	38	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTGCAGATTCAAGGCAATATC	0.413		NaN											0	0	0	0.010729	0	11	54				
ITGA11	22801	broad.mit.edu	37	15	68649637	68649637	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:68649637C>A	uc002ari.2	-	7	688	c.601G>T	c.(601-603)GTT>TTT	p.V201F	ITGA11_uc010bib.2_Missense_Mutation_p.V201F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	201	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	ACAACTCCAACCTGCAAGGGA	0.498		NaN											1	0	2.27525e-19	0.021523	2.5852e-19	17	76				
PTPN9	5780	broad.mit.edu	37	15	75819584	75819584	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:75819584C>T	uc002bal.2	-	2	590	c.82G>A	c.(82-84)GAA>AAA	p.E28K		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	28						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TTAATCTCTTCGAGAAACTGC	0.398		NaN											0	0	0	0.02938	0	6	63				
SGK269	79834	broad.mit.edu	37	15	77472021	77472021	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:77472021C>T	uc002bcm.2	-	3	2556	c.2248G>A	c.(2248-2250)GAG>AAG	p.E750K	SGK269_uc002bcn.2_Missense_Mutation_p.E750K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	750					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		ATCTGAGACTCCTGAGTGCCT	0.527		NaN											0	0	0	0.006214	0	8	77				
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:83776476C>T	uc002bjp.2	+	1	153	c.44C>T	c.(43-45)TCG>TTG	p.S15L	TM6SF1_uc010bmq.2_Missense_Mutation_p.S15L|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15L|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	15	Helical; (Potential).					integral to membrane				ovary(1)	1						CTGTCCCTCTCGGCCATCCCG	0.567		NaN											0	0	0	0.004672	0	3	15				
ITFG3	83986	broad.mit.edu	37	16	304468	304468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304468G>C	uc002cgf.2	+	3	251	c.56G>C	c.(55-57)AGA>ACA	p.R19T	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.R19T|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.R19T	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	19	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AATGAAGAAAGAAAATCGCAG	0.502		NaN									OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.01441	0	43	138				
ITFG3	83986	broad.mit.edu	37	16	304632	304632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304632G>A	uc002cgf.2	+	3	415	c.220G>A	c.(220-222)GAC>AAC	p.D74N	ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.D74N|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.D74N	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	74	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCCGTGTCCAGACCGGCCGGC	0.607		NaN											0	0	0	0.01441	0	59	287				
GRIN2A	2903	broad.mit.edu	37	16	9862756	9862756	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:9862756G>T	uc002czo.3	-	12	3095	c.2547C>A	c.(2545-2547)TTC>TTA	p.F849L	GRIN2A_uc010uym.1_Missense_Mutation_p.F849L|GRIN2A_uc010uyn.1_Missense_Mutation_p.F692L|GRIN2A_uc002czr.3_Missense_Mutation_p.F849L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	849	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACACGCCCGTGAAACAGAAGC	0.572		NaN											1	0	7.41877e-09	0.012319	8.0792e-09	20	57				
UQCRC2	7385	broad.mit.edu	37	16	21985248	21985248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:21985248C>G	uc002djx.2	+	11	1134	c.998C>G	c.(997-999)TCT>TGT	p.S333C	UQCRC2_uc002djy.2_Missense_Mutation_p.S333C|UQCRC2_uc010bxa.2_Intron|UQCRC2_uc002djz.1_Missense_Mutation_p.S200C	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	333					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		TACTCAGATTCTGGACTCTTT	0.388		NaN											0	0	0	0.024245	0	14	57				
GTF3C1	2975	broad.mit.edu	37	16	27518439	27518439	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:27518439C>G	uc002dov.1	-	9	1321	c.1281G>C	c.(1279-1281)AAG>AAC	p.K427N	GTF3C1_uc002dou.2_Missense_Mutation_p.K427N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	427						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						AGGAAATGTACTTGGTGGTTC	0.552		NaN											0	0	0	0.016522	0	18	80				
SNX20	124460	broad.mit.edu	37	16	50709713	50709713	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:50709713G>C	uc002egk.2	-	3	423	c.250C>G	c.(250-252)CGC>GGC	p.R84G	SNX20_uc010vgp.1_Missense_Mutation_p.R84G|SNX20_uc002egi.3_Missense_Mutation_p.R84G	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	84	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						TCCTCGATGCGAGCTGAAGCG	0.418		NaN											0	0	0	0.012319	0	17	115				
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:53288443C>T	uc002ehb.2	+	17	4119	c.3955C>T	c.(3955-3957)CGA>TGA	p.R1319*	CHD9_uc002egy.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehc.2_Nonsense_Mutation_p.R1319*|CHD9_uc002ehf.2_Nonsense_Mutation_p.R433*|CHD9_uc002ehd.2_Nonsense_Mutation_p.R845*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413		NaN											0	0	0	0.012213	0	31	176				
SETD6	79918	broad.mit.edu	37	16	58552747	58552747	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:58552747G>C	uc002ens.2	+	8	1295	c.1236G>C	c.(1234-1236)TGG>TGC	p.W412C	SETD6_uc002enr.2_Missense_Mutation_p.W388C|SETD6_uc010cdm.2_RNA	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	412					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						AAGCATCGTGGAGACAGCTGC	0.453		NaN											0	0	0	0.016522	0	19	64				
EDC4	23644	broad.mit.edu	37	16	67912685	67912685	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912685C>G	uc002eur.2	+	11	1396	c.1230C>G	c.(1228-1230)CTC>CTG	p.L410L	EDC4_uc010cer.2_Silent_p.L29L|EDC4_uc010vkg.1_Silent_p.L342L|EDC4_uc010ces.1_Silent_p.L253L|EDC4_uc002eus.2_Silent_p.L140L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	410					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCCTAGCCTCAAGGTTTGCT	0.517		NaN											0	0	0	0.01441	0	38	252				
EDC4	23644	broad.mit.edu	37	16	67912931	67912931	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912931C>A	uc002eur.2	+	12	1525	c.1359C>A	c.(1357-1359)TTC>TTA	p.F453L	EDC4_uc010cer.2_Missense_Mutation_p.F72L|EDC4_uc010vkg.1_Missense_Mutation_p.F385L|EDC4_uc010ces.1_Missense_Mutation_p.F296L|EDC4_uc002eus.2_Missense_Mutation_p.F183L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	453					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTCGGAGTTCCTGCTCACCC	0.592		NaN											1	0	1.3612e-06	0.024245	1.43966e-06	14	53				
HYDIN	54768	broad.mit.edu	37	16	71004428	71004428	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:71004428C>T	uc002ezr.2	-	36	5739	c.5611G>A	c.(5611-5613)GAA>AAA	p.E1871K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1872										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTCACCTTTTCTTCTATGAGA	0.418		NaN											0	0	0	0.007413	0	13	40				
ANKRD11	29123	broad.mit.edu	37	16	89351727	89351727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:89351727G>C	uc002fmx.1	-	9	1684	c.1223C>G	c.(1222-1224)TCA>TGA	p.S408*	ANKRD11_uc002fmy.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.S408*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.S365*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACGTGTCTGACAGGATACG	0.468		NaN											0	0	0	0.00308	0	7	62				
MYO1C	4641	broad.mit.edu	37	17	1386204	1386204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:1386204C>T	uc002fsp.2	-	4	717	c.497G>A	c.(496-498)CGC>CAC	p.R166H	MYO1C_uc002fsn.2_Missense_Mutation_p.R147H|MYO1C_uc002fso.2_Missense_Mutation_p.R131H|MYO1C_uc010vqj.1_Missense_Mutation_p.R131H|MYO1C_uc010vqk.1_Missense_Mutation_p.R142H	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	166	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCACCTCCGCGCTCGGGGGC	0.617		NaN											0	0	0	0.024245	0	14	29				
ATP2A3	489	broad.mit.edu	37	17	3831578	3831578	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:3831578C>G	uc002fxb.1	-	21	3175	c.3024G>C	c.(3022-3024)TGG>TGC	p.W1008C	ATP2A3_uc010ckn.1_Intron|ATP2A3_uc002fwx.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwy.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fwz.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxa.1_Missense_Mutation_p.W1008C|ATP2A3_uc002fxc.1_Intron|ATP2A3_uc002fxd.1_Intron	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	1008	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCCTACTCCAGGCCTGCG	0.612		NaN											0	0	0	0.006122	0	14	57				
CYB5D2	124936	broad.mit.edu	37	17	4060176	4060176	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4060176G>A	uc002fxm.3	+	4	1183	c.595G>A	c.(595-597)GAC>AAC	p.D199N	CYB5D2_uc010cko.2_Missense_Mutation_p.D87N|CYB5D2_uc002fxl.3_Missense_Mutation_p.D87N	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	199					nervous system development	extracellular region	heme binding			large_intestine(2)|ovary(1)	3						TGTGAGCAGAGACTGGATTGG	0.572		NaN									OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.028581	0	13	42				
CAMTA2	23125	broad.mit.edu	37	17	4873702	4873702	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4873702C>G	uc002gah.1	-	17	3046	c.2938G>C	c.(2938-2940)GAG>CAG	p.E980Q	SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.E1003Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E979Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E982Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E627Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	980					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GACATGGTCTCACTGAGCCCC	0.607		NaN											0	0	0	0.010504	0	20	132				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7577547C>A	uc002gim.2	-	7	928	c.734G>T	c.(733-735)GGC>GTC	p.G245V	TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	1.66031e-10	0.021523	1.83534e-10	21	62		Valid		
DNAH2	146754	broad.mit.edu	37	17	7643863	7643863	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7643863G>A	uc002giu.1	+	9	1516	c.1502G>A	c.(1501-1503)CGC>CAC	p.R501H	DNAH2_uc002git.2_Missense_Mutation_p.R583H|DNAH2_uc010vuk.1_Missense_Mutation_p.R501H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGCCTCCCGCGAGGTGCGG	0.672		NaN											0	0	0	0.007413	0	14	107				
DNAH2	146754	broad.mit.edu	37	17	7673955	7673955	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7673955C>G	uc002giu.1	+	25	4193	c.4179C>G	c.(4177-4179)CTC>CTG	p.L1393L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1393	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCATCGGCTCAGGTCAGGGG	0.542		NaN											0	0	0	0.006122	0	17	104				
WDR16	146845	broad.mit.edu	37	17	9489122	9489122	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:9489122G>A	uc002gly.2	+	2	172	c.103G>A	c.(103-105)GAC>AAC	p.D35N	WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.D45N	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	35						cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						ATGCCATCCTGACCAGGAGCA	0.433		NaN											0	0	0	0.013726	0	31	140				
NCOR1	9611	broad.mit.edu	37	17	16040727	16040727	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16040727C>G	uc002gpo.2	-	14	1648	c.1408_splice	c.e14-1	p.S470_splice	NCOR1_uc002gpn.2_Splice_Site_p.S470_splice|NCOR1_uc002gpp.1_Splice_Site_p.S361_splice|NCOR1_uc002gpr.2_Splice_Site_p.S361_splice|NCOR1_uc002gps.1_Splice_Site_p.S479_splice|NCOR1_uc010coz.1_Splice_Site_p.S286_splice|NCOR1_uc010cpb.1_Splice_Site_p.S479_splice|NCOR1_uc010cpa.1_Splice_Site_p.S470_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGAACACTCTGTAAGAAAT	0.294		NaN											0	0	0	0.009096	0	4	18		Valid		
ZNF287	57336	broad.mit.edu	37	17	16470799	16470799	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16470799G>A	uc002gqi.2	-	2	700	c.247C>T	c.(247-249)CAC>TAC	p.H83Y		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCCTTTGAGTGAATCTCAGGT	0.493		NaN											0	0	0	0.024245	0	14	115				
SUPT6H	6830	broad.mit.edu	37	17	27028139	27028139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:27028139C>T	uc002hby.2	+	36	5077	c.4987C>T	c.(4987-4989)CAG>TAG	p.Q1663*	SUPT6H_uc010crt.2_Nonsense_Mutation_p.Q1663*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1663					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ACGGCAGCAGCAGCCAAAGTA	0.627		NaN											0	0	0	0.004482	0	7	76				
KRTAP4-8	728224	broad.mit.edu	37	17	39253806	39253806	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:39253806G>A	uc010wfo.1	-	1	570	c.531C>T	c.(529-531)CCC>CCT	p.P177P		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4.8	177						keratin filament					0						CGCAGCACACGGGGCGGGGGC	0.542		NaN											0	0	0	0.00308	0	5	4				
KCNH4	23415	broad.mit.edu	37	17	40315336	40315336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315336C>A	uc002hzb.2	-	14	2827	c.2494G>T	c.(2494-2496)GAG>TAG	p.E832*		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	832	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGAGTCCTCAATGCCATCC	0.632		NaN											1	0	3.59834e-05	0.021553	3.77311e-05	6	25				
KCNH4	23415	broad.mit.edu	37	17	40315715	40315715	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315715G>A	uc002hzb.2	-	13	2719	c.2386C>T	c.(2386-2388)CAC>TAC	p.H796Y		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	796	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGGGCCGTGAGGGGAGGCA	0.672		NaN											0	0	0	0.006214	0	6	20				
KCNH4	23415	broad.mit.edu	37	17	40323897	40323897	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40323897G>A	uc002hzb.2	-	7	1437	c.1104C>T	c.(1102-1104)GTC>GTT	p.V368V		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	368	Helical; Name=Segment S5; (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGCGCAAAGACCGACATGA	0.507		NaN											0	0	0	0.00308	0	6	62				
ABCC3	8714	broad.mit.edu	37	17	48753883	48753883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:48753883C>G	uc002isl.2	+	23	3392	c.3312C>G	c.(3310-3312)ATC>ATG	p.I1104M	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1104	ABC transmembrane type-1 2.|Helical; Name=14; (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGTGGTCATCATGGCCAGCA	0.567		NaN											0	0	0	0.009535	0	26	122				
TEX14	56155	broad.mit.edu	37	17	56665024	56665024	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:56665024C>G	uc010dcz.1	-	17	2842	c.2724G>C	c.(2722-2724)ATG>ATC	p.M908I	TEX14_uc002iwr.1_Missense_Mutation_p.M902I|TEX14_uc002iws.1_Missense_Mutation_p.M902I|TEX14_uc010dda.1_Missense_Mutation_p.M682I	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	908						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTCCACACTCATCCTGAATT	0.438		NaN									OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009535	0	22	39				
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:57275120G>A	uc002ixf.1	+	9	1063	c.984G>A	c.(982-984)GTG>GTA	p.V328V	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	328										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.358		NaN											0	0	0	0.016522	0	21	130				
ACOX1	51	broad.mit.edu	37	17	73974647	73974647	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:73974647G>A	uc002jqf.2	-	2	527	c.237C>T	c.(235-237)ATC>ATT	p.I79I	ACOX1_uc010wsq.1_Silent_p.I41I|ACOX1_uc002jqe.2_Silent_p.I79I|ACOX1_uc010wsr.1_5'UTR|C17orf106_uc010dgs.1_5'Flank|CDK3_uc002jqg.3_5'Flank	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	79					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CAGGGTCAGCGATGCCAAACT	0.473		NaN											0	0	0	0.009535	0	26	132				
NOTUM	147111	broad.mit.edu	37	17	79911122	79911122	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:79911122C>T	uc010wvg.1	-	11	1478	c.1206G>A	c.(1204-1206)GTG>GTA	p.V402V		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	402						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACGTCCCCTTCACCTGGACAT	0.617		NaN											0	0	0	0.009096	0	4	17				
KIAA1632	57724	broad.mit.edu	37	18	43510647	43510647	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:43510647A>G	uc002lbm.2	-	12	2507	c.2407T>C	c.(2407-2409)TAT>CAT	p.Y803H	KIAA1632_uc002lbo.1_Missense_Mutation_p.Y803H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	803					autophagy						0						CTAACCTCATATATCTCCAGA	0.358		NaN											0	0	0	0.034045	0	23	29				
MAPK4	5596	broad.mit.edu	37	18	48241459	48241459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:48241459C>T	uc002lev.2	+	3	1557	c.557C>T	c.(556-558)TCA>TTA	p.S186L	MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Missense_Mutation_p.S186L	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	186	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTTATCTGTCAGAAGGGTTG	0.512		NaN											0	0	0	0.024334	0	21	117				
SERPINB11	89778	broad.mit.edu	37	18	61377511	61377511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:61377511C>G	uc002ljk.3	+	2	146	c.84C>G	c.(82-84)ATC>ATG	p.I28M	SERPINB11_uc010xes.1_Translation_Start_Site|SERPINB11_uc010dqd.2_Translation_Start_Site|SERPINB11_uc002ljj.3_Translation_Start_Site|SERPINB11_uc010dqe.2_Translation_Start_Site|SERPINB11_uc010dqf.2_Missense_Mutation_p.I28M	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	28					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				GAGATAACATCTTCTTTTCTT	0.448		NaN											0	0	0	0.016522	0	21	27				
CDH19	28513	broad.mit.edu	37	18	64212042	64212043	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:64212042_64212043CC>TT	uc002lkc.1	-	6	1011_1012	c.873_874GG>AA	c.(871-876)ATGGAT>ATAAAT	p.291_292MD>IN	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.291_292MD>IN|CDH19_uc002lkd.2_Missense_Mutation_p.291_292MD>IN	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	291_292	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ATGCTGTAATCCATTTCTGCAT	0.351		NaN											0	0	0	0.004672	0	33	30				
CYB5A	1528	broad.mit.edu	37	18	71920849	71920849	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:71920849C>G	uc002lli.2	-	5	486	c.375G>C	c.(373-375)TTG>TTC	p.L125F	CYB5A_uc002llh.2_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	125	Helical; (Potential).				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GGCGATACATCAAGGCGACGG	0.512		NaN											0	0	0	0.004672	0	3	55				
MIER2	54531	broad.mit.edu	37	19	325674	325674	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:325674C>T	uc002lok.1	-	7	625	c.616G>A	c.(616-618)GAC>AAC	p.D206N		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	206	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTGAGGTCAGCTTGGAAC	0.607		NaN											0	0	0	0.012319	0	15	73				
SAFB2	9667	broad.mit.edu	37	19	5613501	5613501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:5613501G>T	uc002mcd.2	-	5	793	c.581C>A	c.(580-582)TCA>TAA	p.S194*	SAFB2_uc010xio.1_Nonsense_Mutation_p.S194*|SAFB2_uc010xip.1_RNA	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTTCAACGATGAAGTTTCCAA	0.423		NaN											1	0	7.41877e-09	0.012319	8.0792e-09	17	59				
LRRC8E	80131	broad.mit.edu	37	19	7965381	7965381	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:7965381C>G	uc002mir.2	+	3	2075	c.1974C>G	c.(1972-1974)CTC>CTG	p.L658L		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	658	LRR 7.					integral to membrane				lung(1)|pancreas(1)	2						TGGAGCAGCTCTACCTCAGCT	0.632		NaN											0	0	0	0.02938	0	7	24				
MUC16	94025	broad.mit.edu	37	19	9086461	9086461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9086461G>T	uc002mkp.2	-	1	5558	c.5354C>A	c.(5353-5355)TCA>TAA	p.S1785*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1785	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCCTTGCTGAAGACTTGGA	0.468		NaN											1	0	3.57192e-18	0.006122	4.03353e-18	15	55				
MUC16	94025	broad.mit.edu	37	19	9088659	9088659	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9088659C>T	uc002mkp.2	-	1	3360	c.3156G>A	c.(3154-3156)TTG>TTA	p.L1052L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1052	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGCTTGTGTCCAATCTTCCTT	0.478		NaN											0	0	0	0.008871	0	19	65				
TNPO2	30000	broad.mit.edu	37	19	12829859	12829859	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:12829859G>A	uc002muo.2	-	4	494	c.309C>T	c.(307-309)CTC>CTT	p.L103L	TNPO2_uc002mup.2_Silent_p.L195L|TNPO2_uc002muq.2_Silent_p.L103L|TNPO2_uc002mur.2_Silent_p.L103L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	103					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						TGGCTCGGATGAGCGAGGAGG	0.463		NaN											0	0	0	0.021022	0	31	131				
RFX1	5989	broad.mit.edu	37	19	14079426	14079426	+	Silent	SNP	C	C	T	rs150138140		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:14079426C>T	uc002mxv.2	-	12	1955	c.1683G>A	c.(1681-1683)ACG>ACA	p.T561T		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	561					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGACAGCCCCGTGCTCGGCT	0.662		NaN											0	0	0	0.034045	0	21	64				
CYP4F12	66002	broad.mit.edu	37	19	15794528	15794528	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:15794528C>G	uc002nbl.2	+	7	934	c.873C>G	c.(871-873)GCC>GCG	p.A291A		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					AAGACAAAGCCAAGTCCAAGA	0.488		NaN											0	0	0	0.021523	0	21	85				
RAB3A	5864	broad.mit.edu	37	19	18311177	18311177	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:18311177C>A	uc002nie.2	-	3	476	c.307G>T	c.(307-309)GAC>TAC	p.D103Y		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	103					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity				0						TTGGTGATGTCATACATGAGG	0.443		NaN											1	0	3.5997e-14	0.014323	4.01547e-14	18	96				
ZNF100	163227	broad.mit.edu	37	19	21909652	21909652	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:21909652C>G	uc002nqi.2	-	5	1661	c.1462G>C	c.(1462-1464)GAG>CAG	p.E488Q	ZNF100_uc002nqh.2_Missense_Mutation_p.E424Q	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	488	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCACATTCCTCACATTTGTAG	0.398		NaN											0	0	0	0.028581	0	11	85				
WTIP	126374	broad.mit.edu	37	19	34983976	34983976	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:34983976G>C	uc002nvm.2	+	3	804	c.804G>C	c.(802-804)GTG>GTC	p.V268V		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCTACAACGTGGGTGAGAAAG	0.627		NaN											0	0	0	0.027356	0	23	134				
ZNF382	84911	broad.mit.edu	37	19	37117266	37117266	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:37117266C>A	uc002oek.2	+	5	580	c.467C>A	c.(466-468)CCC>CAC	p.P156H	ZNF382_uc010efa.2_Missense_Mutation_p.P107H|ZNF382_uc010efb.2_Missense_Mutation_p.P155H|ZNF382_uc002oel.2_Missense_Mutation_p.P155H	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	156	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATATAAGCCCCATAAAAGAG	0.343		NaN											1	0	3.62473e-10	0.012319	3.99482e-10	15	140				
SIPA1L3	23094	broad.mit.edu	37	19	38673330	38673330	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:38673330G>C	uc002ohk.2	+	16	4889	c.4380G>C	c.(4378-4380)AAG>AAC	p.K1460N		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1460					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGGTGGAAGAGAACGGAGG	0.642		NaN											0	0	0	0.010504	0	17	61				
PSG1	5669	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43382064C>T	uc002ovb.2	-	2	568	c.430_splice	c.e2+1	p.L144_splice	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Splice_Site_p.L144_splice|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Splice_Site|PSG1_uc002our.1_Splice_Site_p.L144_splice|PSG1_uc010eio.1_Splice_Site_p.L144_splice|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Splice_Site_p.L144_splice|PSG1_uc002ouz.1_Splice_Site_p.L144_splice|PSG1_uc002ova.1_Splice_Site_p.P144_splice|PSG1_uc002ovc.2_Splice_Site_p.P144_splice|PSG1_uc002ovd.1_Splice_Site_p.L144_splice	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517		NaN											0	0	0	0.01441	0	127	204				
PSG2	5670	broad.mit.edu	37	19	43575870	43575870	+	Silent	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43575870A>G	uc002ovr.2	-	4	1039	c.946T>C	c.(946-948)TTG>CTG	p.L316L	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.L316L|PSG2_uc010eiq.1_Silent_p.L316L|PSG2_uc002ovs.3_Silent_p.L316L|PSG2_uc002ovt.3_Silent_p.L316L	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	316	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTGACTGTCAACGATGTGGAG	0.458		NaN											0	0	0	0.036044	0	37	243				
XRCC1	7515	broad.mit.edu	37	19	44050093	44050093	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050093C>T	uc002owt.2	-	14	1618	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	XRCC1_uc010xwp.1_Missense_Mutation_p.E469K	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	500					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				AGTCTGTGTTCCTTCTGCTCT	0.627		NaN						Other_BER_factors					0	0	0	0.014758	0	4	35				
XRCC1	7515	broad.mit.edu	37	19	44050097	44050097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050097C>T	uc002owt.2	-	14	1614	c.1494G>A	c.(1492-1494)CAG>CAA	p.Q498Q	XRCC1_uc010xwp.1_Silent_p.Q467Q	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	498					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TGTGTTCCTTCTGCTCTGCCA	0.632		NaN						Other_BER_factors					0	0	0	0.021553	0	5	34				
XRCC1	7515	broad.mit.edu	37	19	44051059	44051059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44051059C>T	uc002owt.2	-	11	1390	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K	XRCC1_uc010xwp.1_Missense_Mutation_p.E393K	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	424					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TTGGGGGCTTCATCTCCGCTG	0.607		NaN						Other_BER_factors					0	0	0	0.021523	0	22	97				
MYPOP	339344	broad.mit.edu	37	19	46393972	46393972	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:46393972G>A	uc002pdt.2	-	3	1196	c.1109C>T	c.(1108-1110)CCA>CTA	p.P370L		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	370	Pro-rich.					nucleus	DNA binding				0						GAGCGGGGCTGGGGGGGGCCG	0.662		NaN											0	0	0	0.004672	0	3	9				
TRPM4	54795	broad.mit.edu	37	19	49674990	49674990	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:49674990C>G	uc002pmw.2	+	8	1086	c.1014C>G	c.(1012-1014)TTC>TTG	p.F338L	TRPM4_uc010emu.2_Missense_Mutation_p.F338L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.F164L|TRPM4_uc010emv.2_Missense_Mutation_p.F223L|TRPM4_uc010yal.1_Missense_Mutation_p.F55L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	338	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCAGGCGTTTCTTTCCCAAAG	0.463		NaN											0	0	0	0.007413	0	17	24				
ETFB	2109	broad.mit.edu	37	19	51856530	51856530	+	Silent	SNP	G	G	A	rs147509776		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51856530G>A	uc002pwh.2	-	3	323	c.231C>T	c.(229-231)ACC>ACT	p.T77T	ETFB_uc002pwg.2_Silent_p.T168T	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.512		NaN											0	0	0	0.016723	0	10	93				
NKG7	4818	broad.mit.edu	37	19	51875508	51875508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51875508C>T	uc002pwj.2	-	2	382	c.211G>A	c.(211-213)GTG>ATG	p.V71M	NKG7_uc002pwk.2_Intron	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	71	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCACGGACACCAGGGCCCAC	0.617		NaN											0	0	0	0.01441	0	47	117				
ZNF845	91664	broad.mit.edu	37	19	53854452	53854452	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:53854452C>G	uc010ydv.1	+	4	641	c.524C>G	c.(523-525)TCA>TGA	p.S175*	ZNF845_uc010ydw.1_Nonsense_Mutation_p.S175*	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCGTTGGTTTCAACATCCCAA	0.388		NaN											0	0	0	0.0333	0	17	55				
ZIK1	284307	broad.mit.edu	37	19	58101751	58101751	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:58101751G>A	uc002qpg.2	+	4	669	c.572G>A	c.(571-573)GGC>GAC	p.G191D	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.G136D|ZIK1_uc002qpi.2_Missense_Mutation_p.G178D|ZIK1_uc002qpj.2_Missense_Mutation_p.G88D	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCTGGAGGCAAGAAACCC	0.498		NaN											0	0	0	0.011902	0	39	57				
PDIA6	10130	broad.mit.edu	37	2	10952816	10952816	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:10952816G>A	uc002rau.2	-	1	145	c.7C>T	c.(7-9)CTC>TTC	p.L3F	PDIA6_uc010yjg.1_5'UTR|PDIA6_uc002rav.2_Intron|PDIA6_uc010yjh.1_Intron|PDIA6_uc002raw.2_Intron	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	3					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AGCACCAGGAGAGCCATGCCG	0.687		NaN											0	0	0	0.014758	0	3	11				
OTOF	9381	broad.mit.edu	37	2	26706500	26706500	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:26706500C>T	uc002rhk.2	-	13	1349	c.1222G>A	c.(1222-1224)GAG>AAG	p.E408K		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	408	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACCCCCTCGGGGAGCAGC	0.602		NaN											0	0	0	0.004482	0	7	23				
VIT	5212	broad.mit.edu	37	2	36982074	36982074	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:36982074G>C	uc002rpl.2	+	5	507	c.286G>C	c.(286-288)GAT>CAT	p.D96H	VIT_uc002rpk.2_Missense_Mutation_p.D89H|VIT_uc010ynf.1_Missense_Mutation_p.D89H|VIT_uc002rpm.2_Missense_Mutation_p.D89H|VIT_uc010ezv.2_Missense_Mutation_p.D89H|VIT_uc010ezw.2_Missense_Mutation_p.D89H	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	96	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TGGTGTGCTTGATAATTCAGG	0.393		NaN											0	0	0	0.036044	0	34	40				
CALM2	805	broad.mit.edu	37	2	47389450	47389450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:47389450C>G	uc002rvt.2	-	4	418	c.260G>C	c.(259-261)AGA>ACA	p.R87T	C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734	P62158	CALM_HUMAN	calmodulin 2	87	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GAATGCTTCTCTAATTTCTTC	0.368		NaN											0	0	0	0.004482	0	6	43				
FAM176A	84141	broad.mit.edu	37	2	75720637	75720637	+	Missense_Mutation	SNP	C	C	G	rs150035696	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:75720637C>G	uc002sni.2	-	4	662	c.184G>C	c.(184-186)GAC>CAC	p.D62H	FAM176A_uc002snj.1_Missense_Mutation_p.D49H|FAM176A_uc002snk.1_Missense_Mutation_p.D62H	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	62					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						CGCCTGCAGTCTGTGTGGCAA	0.587		NaN											0	0	0	0.010729	0	12	54				
SEMA4C	54910	broad.mit.edu	37	2	97531659	97531659	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:97531659C>A	uc002sxh.3	-	4	426	c.266G>T	c.(265-267)TGG>TTG	p.W89L	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.W142L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	89	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						GGGGGCCTCCCAGGAGATCTG	0.597		NaN											1	0	7.93312e-07	0.020292	8.41461e-07	11	113				
TMEM87B	84910	broad.mit.edu	37	2	112838657	112838657	+	Missense_Mutation	SNP	C	C	T	rs151250123		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838657C>T	uc002thm.2	+	7	985	c.616C>T	c.(616-618)CAT>TAT	p.H206Y	TMEM87B_uc010fkg.2_Missense_Mutation_p.H189Y|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	206						integral to membrane					0						GATTGGGCCTCATGGATATAT	0.333		NaN											0	0	0	0.036044	0	25	46				
TMEM87B	84910	broad.mit.edu	37	2	112838676	112838676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838676C>G	uc002thm.2	+	7	1004	c.635C>G	c.(634-636)TCA>TGA	p.S212*	TMEM87B_uc010fkg.2_Nonsense_Mutation_p.S195*|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	212						integral to membrane					0						ATCTCTGCATCAGATTGGCCC	0.328		NaN											0	0	0	0.011902	0	27	44				
TMEM87B	84910	broad.mit.edu	37	2	112839041	112839041	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112839041G>C	uc002thm.2	+	8	1153	c.784G>C	c.(784-786)GAA>CAA	p.E262Q	TMEM87B_uc010fkg.2_Missense_Mutation_p.E245Q|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	262	Helical; (Potential).					integral to membrane					0						GGGAATGCTTGAAAAAGCAGT	0.358		NaN											0	0	0	0.01441	0	44	77				
SCTR	6344	broad.mit.edu	37	2	120231035	120231035	+	Missense_Mutation	SNP	C	C	G	rs142755533		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:120231035C>G	uc002tma.2	-	4	625	c.399G>C	c.(397-399)GAG>GAC	p.E133D	SCTR_uc002tlz.2_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	133	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	TTACCCGCTTCTCGTTGGAAG	0.592		NaN											0	0	0	0.016723	0	12	28				
SMPD4	55627	broad.mit.edu	37	2	130911366	130911366	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:130911366G>C	uc002tqq.1	-	17	2439	c.1919C>G	c.(1918-1920)GCC>GGC	p.A640G	SMPD4_uc002tqo.1_Missense_Mutation_p.A172G|SMPD4_uc002tqp.1_Missense_Mutation_p.A379G|SMPD4_uc010yzy.1_Missense_Mutation_p.A389G|SMPD4_uc010yzz.1_Missense_Mutation_p.A304G|SMPD4_uc002tqr.1_Missense_Mutation_p.A611G|SMPD4_uc002tqs.1_Missense_Mutation_p.A508G|SMPD4_uc002tqt.1_Missense_Mutation_p.A489G|SMPD4_uc010zaa.1_Missense_Mutation_p.A498G|SMPD4_uc010zab.1_Missense_Mutation_p.A538G|SMPD4_uc010zac.1_Missense_Mutation_p.A381G|SMPD4_uc010zad.1_Missense_Mutation_p.A276G	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	601					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGGTCGTTGGCTGTGTAGGA	0.592		NaN											0	0	0	0.01441	0	196	129				
LCT	3938	broad.mit.edu	37	2	136566130	136566130	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:136566130C>T	uc002tuu.1	-	8	3798	c.3787G>A	c.(3787-3789)GAG>AAG	p.E1263K		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1263	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACCATACTCTTCCTTGATC	0.537		NaN											0	0	0	0.01441	0	85	76				
PKP4	8502	broad.mit.edu	37	2	159481626	159481626	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:159481626C>T	uc002tzv.2	+	7	1100	c.840C>T	c.(838-840)GCC>GCT	p.A280A	PKP4_uc002tzt.1_Silent_p.A132A|PKP4_uc002tzu.2_Silent_p.A280A|PKP4_uc002tzw.2_Silent_p.A280A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.A278A|PKP4_uc002uaa.2_Silent_p.A132A	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	280					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						AGAGACCCGCCTCCCCAACAG	0.612		NaN								HNSCC(62;0.18)			0	0	0	0.008291	0	10	48				
HOXD3	3232	broad.mit.edu	37	2	177034235	177034235	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:177034235C>A	uc002ukt.1	+	2	569	c.393C>A	c.(391-393)CCC>CCA	p.P131P		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	131					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		catcttcacccACCAATCCTG	0.463		NaN											1	0	3.86212e-05	0.008291	4.0267e-05	10	61				
PDE11A	50940	broad.mit.edu	37	2	178936390	178936390	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:178936390C>G	uc002ulq.2	-	1	1093	c.775G>C	c.(775-777)GAT>CAT	p.D259H	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	259	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCATGCACATCAAAGAATTTG	0.532		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.020292	0	14	32				
TTN	7273	broad.mit.edu	37	2	179587610	179587610	+	Missense_Mutation	SNP	G	G	A	rs72648966		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179587610G>A	uc010zfg.1	-	73	18508	c.18284C>T	c.(18283-18285)TCG>TTG	p.S6095L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2756L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7022							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAGAAACCGAATCTCCAAC	0.438		NaN											0	0	0	0.02938	0	5	24				
TTN	7273	broad.mit.edu	37	2	179605206	179605206	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179605206G>C	uc010zfh.1	-	46	12465	c.12241C>G	c.(12241-12243)CTT>GTT	p.L4081V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L4014V|TTN_uc010zfj.1_Missense_Mutation_p.L3889V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTTTGAAGAGTCACTCTT	0.463		NaN											0	0	0	0.004482	0	7	37				
BARD1	580	broad.mit.edu	37	2	215609878	215609878	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:215609878G>C	uc002veu.2	-	9	1951	c.1816C>G	c.(1816-1818)CAT>GAT	p.H606D	BARD1_uc010zjm.1_Missense_Mutation_p.H462D	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	606	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAACAACATGAGTTACTAAA	0.338		NaN							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				0	0	0	0.020292	0	11	36				
TNS1	7145	broad.mit.edu	37	2	218683208	218683208	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:218683208G>C	uc002vgt.2	-	24	3933	c.3535C>G	c.(3535-3537)CAG>GAG	p.Q1179E	TNS1_uc002vgr.2_Missense_Mutation_p.Q1166E|TNS1_uc002vgs.2_Missense_Mutation_p.Q1158E|TNS1_uc010zjv.1_Missense_Mutation_p.Q1158E	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1179						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCGCGCCTGAGGGCTCCCA	0.637		NaN											0	0	0	0.016723	0	11	79				
PCSK2	5126	broad.mit.edu	37	20	17445975	17445975	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:17445975G>A	uc002wpm.2	+	11	1527	c.1207G>A	c.(1207-1209)GGT>AGT	p.G403S	PCSK2_uc002wpl.2_Missense_Mutation_p.G384S|PCSK2_uc010zrm.1_Missense_Mutation_p.G368S|PCSK2_uc002wpn.2_Missense_Mutation_p.G57S	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	403	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCCAGCCTGGGTCTGACCTG	0.562		NaN											0	0	0	0.016522	0	21	42				
CST1	1469	broad.mit.edu	37	20	23731323	23731323	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:23731323C>G	uc002wtp.2	-	1	252	c.181G>C	c.(181-183)GAT>CAT	p.D61H		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	61						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGTAGTCATCTTTGGTGGCC	0.567		NaN											0	0	0	0.033182	0	35	65				
PTPRT	11122	broad.mit.edu	37	20	40748574	40748574	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:40748574C>T	uc002xkg.2	-	20	3068	c.2884_splice	c.e20+1	p.G962_splice	PTPRT_uc010ggj.2_Splice_Site_p.G981_splice|PTPRT_uc010ggi.2_Splice_Site_p.G165_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGCACTTACCTTGAGTCGC	0.512		NaN											0	0	0	0.01441	0	49	104				
SERINC3	10955	broad.mit.edu	37	20	43129871	43129871	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:43129871C>T	uc002xme.2	-	9	1260	c.1126G>A	c.(1126-1128)GAT>AAT	p.D376N	SERINC3_uc002xmf.1_Missense_Mutation_p.D376N|SERINC3_uc010ggs.1_Missense_Mutation_p.D369N|SERINC3_uc010zwp.1_Missense_Mutation_p.D321N	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	376	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTAGTTGTATCACCAAGGATG	0.507		NaN											0	0	0	0.017118	0	25	158				
ACOT8	10005	broad.mit.edu	37	20	44477114	44477114	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:44477114C>G	uc002xqa.1	-	3	544	c.463G>C	c.(463-465)GAG>CAG	p.E155Q	ACOT8_uc010zxe.1_Missense_Mutation_p.E155Q|ACOT8_uc002xqc.1_Missense_Mutation_p.E102Q|ACOT8_uc010zxf.1_Intron	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	155					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ATGAGGGTCTCACAGTCAAGC	0.453		NaN											0	0	0	0.01441	0	48	312				
RAE1	8480	broad.mit.edu	37	20	55948726	55948726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:55948726G>C	uc002xyg.2	+	10	1098	c.757G>C	c.(757-759)GAT>CAT	p.D253H	RAE1_uc010gis.1_Missense_Mutation_p.D206H|RAE1_uc010git.1_Missense_Mutation_p.D253H|RAE1_uc002xyh.2_Missense_Mutation_p.D253H|RAE1_uc002xyi.2_Missense_Mutation_p.D253H	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	253					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CAGCGCCAAAGATAACTTCAC	0.418		NaN											0	0	0	0.01441	0	65	151				
DONSON	29980	broad.mit.edu	37	21	34951767	34951767	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:34951767C>T	uc002ysk.2	-	9	1519	c.1452G>A	c.(1450-1452)CTG>CTA	p.L484L	DONSON_uc002ysi.1_Silent_p.L244L|DONSON_uc002ysj.2_Silent_p.L117L|DONSON_uc002ysl.2_Silent_p.L117L|DONSON_uc010gme.2_Silent_p.L457L|DONSON_uc002ysm.2_Silent_p.L484L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	484					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						GCAGCATGGTCAGTGAATGCA	0.443		NaN											0	0	0	0.030593	0	23	134				
PRDM15	63977	broad.mit.edu	37	21	43222983	43222983	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43222983C>G	uc002yzq.1	-	30	4041	c.3930G>C	c.(3928-3930)GCG>GCC	p.A1310A	PRDM15_uc002yzo.2_Silent_p.A981A|PRDM15_uc002yzp.2_Silent_p.A1001A|PRDM15_uc002yzr.1_Silent_p.A1001A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCGGAGCACCCGCCTCCTCTT	0.577		NaN											0	0	0	0.01441	0	47	294				
UMODL1	89766	broad.mit.edu	37	21	43504216	43504216	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43504216C>T	uc002zaf.1	+	3	342	c.342C>T	c.(340-342)TTC>TTT	p.F114F	UMODL1_uc002zad.1_Silent_p.F42F|UMODL1_uc002zae.1_Silent_p.F42F|UMODL1_uc002zag.1_Silent_p.F114F|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	114	Extracellular (Potential).|WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCGGGCAGTTCACGTCAAGAC	0.562		NaN											0	0	0	0.01441	0	75	200				
PKNOX1	5316	broad.mit.edu	37	21	44427655	44427655	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:44427655G>C	uc002zcq.1	+	3	294	c.106G>C	c.(106-108)GAT>CAT	p.D36H	PKNOX1_uc002zcp.1_Missense_Mutation_p.D36H|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.2_Missense_Mutation_p.D36H	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	36							sequence-specific DNA binding			large_intestine(2)	2						CTCTGAACCCGATGCAGAAGG	0.493		NaN											0	0	0	0.025465	0	35	190				
ENTHD1	150350	broad.mit.edu	37	22	40139982	40139982	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40139982G>C	uc003ayg.2	-	7	1777	c.1526C>G	c.(1525-1527)TCT>TGT	p.S509C		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	509										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GTGACTACTAGAAATGTGACT	0.433		NaN											0	0	0	0.004482	0	9	35				
ENTHD1	150350	broad.mit.edu	37	22	40140187	40140187	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140187G>A	uc003ayg.2	-	7	1572	c.1321C>T	c.(1321-1323)CTG>TTG	p.L441L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	441										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GGTCCGGCCAGAATTGGTGAT	0.458		NaN											0	0	0	0.013537	0	12	35				
ENTHD1	150350	broad.mit.edu	37	22	40140202	40140202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140202G>C	uc003ayg.2	-	7	1557	c.1306C>G	c.(1306-1308)CTC>GTC	p.L436V		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	436										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GGTGATAAGAGATGAGCTGAC	0.438		NaN											0	0	0	0.006214	0	9	33				
GRAMD4	23151	broad.mit.edu	37	22	47073091	47073091	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:47073091C>T	uc003bhx.2	+	18	1719	c.1680C>T	c.(1678-1680)ACC>ACT	p.T560T	GRAMD4_uc010had.2_Silent_p.T476T|GRAMD4_uc003bhy.2_Silent_p.T83T	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	560					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTTCGAGACCATTCTCAGCC	0.552		NaN											0	0	0	0.014323	0	17	95				
HDAC10	83933	broad.mit.edu	37	22	50684743	50684743	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:50684743G>C	uc003bkg.2	-	17	2007	c.1634C>G	c.(1633-1635)TCC>TGC	p.S545C	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.S271C|HDAC10_uc003bkf.2_Missense_Mutation_p.S271C|HDAC10_uc010hav.2_Missense_Mutation_p.S525C|HDAC10_uc003bkh.2_Missense_Mutation_p.S338C|HDAC10_uc003bki.2_Missense_Mutation_p.S495C|HDAC10_uc003bkj.2_RNA	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	545					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTGGCGTGGAGACATGGAA	0.582		NaN											0	0	0	0.010504	0	16	130				
C3orf32	51066	broad.mit.edu	37	3	8667307	8667307	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:8667307G>T	uc003bqu.2	-	10	974	c.728C>A	c.(727-729)TCT>TAT	p.S243Y	C3orf32_uc003bqz.2_Missense_Mutation_p.S243Y|C3orf32_uc003bqt.2_Missense_Mutation_p.S192Y|C3orf32_uc011atg.1_Missense_Mutation_p.S265Y|C3orf32_uc003bqv.2_Missense_Mutation_p.S192Y|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.S243Y	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	243										skin(1)	1						CCGGTGCTCAGACACAAACTC	0.398		NaN											1	0	1.99824e-07	0.0333	2.13805e-07	14	92				
FANCD2	2177	broad.mit.edu	37	3	10094121	10094121	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:10094121C>G	uc003buw.2	+	18	1674	c.1596C>G	c.(1594-1596)CTC>CTG	p.L532L	FANCD2_uc003bux.1_Silent_p.L532L|FANCD2_uc003buy.1_Silent_p.L532L|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	532					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACGAAAACTCTTCTATGTTC	0.388		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.0333	0	13	120				
NGLY1	55768	broad.mit.edu	37	3	25775404	25775404	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:25775404C>T	uc003cdl.2	-	8	1327	c.1219G>A	c.(1219-1221)GAA>AAA	p.E407K	NGLY1_uc010hfg.2_Missense_Mutation_p.E389K|NGLY1_uc003cdm.2_Missense_Mutation_p.E407K|NGLY1_uc011awo.1_Missense_Mutation_p.E365K|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	407					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						AGTAATGCTTCTTTAACCTTA	0.343		NaN											0	0	0	0.016723	0	11	112				
MLH1	4292	broad.mit.edu	37	3	37056000	37056000	+	Nonsense_Mutation	SNP	C	C	G	rs121912956		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:37056000C>G	uc003cgl.2	+	9	815	c.755C>G	c.(754-756)TCA>TGA	p.S252*	MLH1_uc011aye.1_Nonsense_Mutation_p.S11*|MLH1_uc011ayb.1_Nonsense_Mutation_p.S11*|MLH1_uc010hge.2_Nonsense_Mutation_p.S252*|MLH1_uc003cgn.3_Nonsense_Mutation_p.S11*|MLH1_uc011ayc.1_Nonsense_Mutation_p.S154*|MLH1_uc011ayd.1_Nonsense_Mutation_p.S11*|MLH1_uc003cgo.2_Nonsense_Mutation_p.S11*|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	252			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.S252*(2)|p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						GCAAACTACTCAGTGAAGAAG	0.378		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.00308	0	6	70				
ANO10	55129	broad.mit.edu	37	3	43640099	43640099	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:43640099C>G	uc003cmv.2	-	4	568	c.397G>C	c.(397-399)GAA>CAA	p.E133Q	ANO10_uc011azs.1_Missense_Mutation_p.E133Q|ANO10_uc003cmw.2_Missense_Mutation_p.E67Q|ANO10_uc010hil.2_Missense_Mutation_p.E133Q|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	133	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						CTAAGATTTTCAAGTTCATGT	0.313		NaN											0	0	0	0.004672	0	3	42				
DALRD3	55152	broad.mit.edu	37	3	49055271	49055271	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:49055271C>T	uc003cvk.1	-	3	513	c.493G>A	c.(493-495)GAT>AAT	p.D165N	DALRD3_uc003cvl.1_Missense_Mutation_p.D165N|DALRD3_uc003cvm.1_5'UTR|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.D165N|NDUFAF3_uc003cvn.2_5'Flank	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	165					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGTGCGGATCCCGCACAGCT	0.672		NaN											0	0	0	0.021553	0	5	20				
GNAT1	2779	broad.mit.edu	37	3	50231304	50231304	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:50231304C>T	uc003cym.2	+	5	684	c.568C>T	c.(568-570)CTC>TTC	p.L190F	GNAT1_uc003cyl.2_Missense_Mutation_p.L190F	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	190					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTCAAGGATCTCAACTTCCG	0.657		NaN											0	0	0	0.025465	0	30	72				
ALAS1	211	broad.mit.edu	37	3	52233298	52233298	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:52233298T>G	uc003dcy.1	+	3	378	c.41T>G	c.(40-42)GTC>GGC	p.V14G	ALAS1_uc003dcx.1_Missense_Mutation_p.V14G|ALAS1_uc003dcz.1_Missense_Mutation_p.V14G|ALAS1_uc011bec.1_Missense_Mutation_p.V31G	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	14					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTATCCCGAGTCCCCCAGGCC	0.527		NaN											0	0	0	0.008871	0	14	73				
ADAMTS9	56999	broad.mit.edu	37	3	64617494	64617494	+	Silent	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:64617494T>C	uc003dmg.2	-	15	2315	c.2283A>G	c.(2281-2283)ACA>ACG	p.T761T	ADAMTS9_uc011bfo.1_Silent_p.T733T|ADAMTS9_uc003dmh.1_Silent_p.T590T|ADAMTS9_uc003dmk.1_Silent_p.T761T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	761	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATAATGTACTGTATTAAATG	0.358		NaN											0	0	0	0.010504	0	18	86				
CBLB	868	broad.mit.edu	37	3	105377939	105377939	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:105377939C>G	uc003dwc.2	-	19	3146	c.2824G>C	c.(2824-2826)GAG>CAG	p.E942Q	CBLB_uc003dwa.2_Missense_Mutation_p.E157Q|CBLB_uc011bhi.1_Missense_Mutation_p.E920Q	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	942	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						GCATAACCCTCTCCCATGAGT	0.512		NaN	Mis S		AML								0	0	0	0.028581	0	13	122				
C3orf1	51300	broad.mit.edu	37	3	119222468	119222468	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:119222468G>A	uc003ecn.2	+	3	662	c.449_splice	c.e3+1	p.N150_splice	C3orf1_uc003eco.2_Splice_Site|C3orf1_uc003ecp.2_Splice_Site	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300							integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		CTATATTCAAGTAAGTTCACT	0.418		NaN											0	0	0	0.004482	0	7	11				
PARP14	54625	broad.mit.edu	37	3	122437553	122437553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:122437553C>T	uc003efq.3	+	14	4614	c.4555C>T	c.(4555-4557)CGA>TGA	p.R1519*	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1236*|PARP14_uc003efs.1_Nonsense_Mutation_p.R1236*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAGAGTTCGATTGGCCAA	0.398		NaN											0	0	0	0.01441	0	49	263				
RASA2	5922	broad.mit.edu	37	3	141326559	141326559	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:141326559T>A	uc003etz.1	+	20	1973	c.1973T>A	c.(1972-1974)CTT>CAT	p.L658H	RASA2_uc010huq.1_Missense_Mutation_p.L662H|RASA2_uc003eua.1_Missense_Mutation_p.L659H	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	658	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						AAAAACATTCTTGCTGTGGAA	0.264		NaN											0	0	0	0.010729	0	8	46				
SERPINI2	5276	broad.mit.edu	37	3	167183420	167183420	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:167183420G>C	uc003fer.1	-	3	578	c.520C>G	c.(520-522)CTG>GTG	p.L174V	SERPINI2_uc003fes.1_Missense_Mutation_p.L184V|SERPINI2_uc003fet.1_Missense_Mutation_p.L174V	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	174					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						AGCCGAGTCAGAGGGCCAAAT	0.383		NaN											0	0	0	0.007413	0	14	37				
LRRC31	79782	broad.mit.edu	37	3	169572606	169572606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:169572606G>T	uc003fgc.1	-	6	1063	c.986C>A	c.(985-987)TCA>TAA	p.S329*	LRRC31_uc010hwp.1_Nonsense_Mutation_p.S273*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	329	LRR 4.									ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTACTCAGTGACATCACGTC	0.398		NaN											1	0	4.15321e-07	0.009535	4.4309e-07	24	98				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:178936091G>C	uc003fjk.2	+	10	1790	c.1633G>C	c.(1633-1635)GAG>CAG	p.E545Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.010504	0	17	58		Valid		
EPHB3	2049	broad.mit.edu	37	3	184298213	184298213	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:184298213C>T	uc003foz.2	+	12	2633	c.2196C>T	c.(2194-2196)GTC>GTT	p.V732V		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	732	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTTCACGGTCATCCAGCTGG	0.612		NaN											0	0	0	0.030593	0	23	176				
FAM13A	10144	broad.mit.edu	37	4	89660243	89660243	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:89660243G>A	uc003hse.1	-	20	2708	c.2500C>T	c.(2500-2502)CTA>TTA	p.L834L	FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.L305L|FAM13A_uc003hsb.1_Silent_p.L508L|FAM13A_uc003hsd.1_Silent_p.L508L|FAM13A_uc003hsc.1_Silent_p.L494L|FAM13A_uc011cdq.1_Silent_p.L480L|FAM13A_uc003hsf.1_Silent_p.L420L|FAM13A_uc003hsg.1_Silent_p.L305L	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CTGTCGTATAGTGGCTTCATC	0.498		NaN											0	0	0	0.012213	0	23	62				
TMSL3	7117	broad.mit.edu	37	4	91760120	91760120	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:91760120C>T	uc003hsy.2	-	1	150	c.69G>A	c.(67-69)ACG>ACA	p.T23T	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		TTTTCTCTTGCGTCTCTGTCT	0.507		NaN											0	0	0	0.006214	0	9	127				
C4orf21	55345	broad.mit.edu	37	4	113508784	113508784	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:113508784C>G	uc003iau.2	-	12	3640	c.3429G>C	c.(3427-3429)CAG>CAC	p.Q1143H	C4orf21_uc003iav.2_RNA	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCACTTGCTCTGAGTAGATA	0.403		NaN											0	0	0	0.010729	0	12	41				
ANK2	287	broad.mit.edu	37	4	114275328	114275328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275328G>T	uc003ibe.3	+	38	5654	c.5554G>T	c.(5554-5556)GAG>TAG	p.E1852*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1867*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1819	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGTAAAACTGAGAAACACTC	0.478		NaN											1	0	3.40343e-31	0.01441	3.92785e-31	46	137				
ANK2	287	broad.mit.edu	37	4	114275400	114275400	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275400G>A	uc003ibe.3	+	38	5726	c.5626G>A	c.(5626-5628)GAG>AAG	p.E1876K	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E1891K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1843	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTAAAACTGAGAAACACTC	0.458		NaN											0	0	0	0.01441	0	43	128				
EXOSC9	5393	broad.mit.edu	37	4	122735121	122735121	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122735121G>A	uc003iea.2	+	10	1183	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	EXOSC9_uc003idz.2_Missense_Mutation_p.E359K|EXOSC9_uc003ieb.2_Missense_Mutation_p.E343K|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						GGAAGATGATGAAGGCGGTGG	0.453		NaN											0	0	0	0.017118	0	32	87				
BBS7	55212	broad.mit.edu	37	4	122766713	122766713	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122766713G>A	uc003ied.2	-	11	1350	c.1176C>T	c.(1174-1176)GCC>GCT	p.A392A	BBS7_uc003iee.1_Silent_p.A392A	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	392					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						GGCTGTAACTGGCATCATCTT	0.313		NaN							Bardet-Biedl_syndrome				0	0	0	0.020292	0	12	44				
C4orf51	646603	broad.mit.edu	37	4	146653608	146653608	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:146653608C>T	uc003ikk.2	+	6	505	c.505C>T	c.(505-507)CAT>TAT	p.H169Y		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	169											0						TCTCCAGCTTCATGGACGGTG	0.473		NaN											0	0	0	0.02938	0	6	23				
DCLK2	166614	broad.mit.edu	37	4	151124998	151124998	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:151124998C>G	uc003ilm.3	+	5	1113	c.1013C>G	c.(1012-1014)TCC>TGC	p.S338C	DCLK2_uc003iln.3_Missense_Mutation_p.S338C|DCLK2_uc003ilo.3_Missense_Mutation_p.S355C|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	338	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ACGAAATCCTCCAGTTCCTCT	0.393		NaN											0	0	0	0.012319	0	18	109				
FHDC1	85462	broad.mit.edu	37	4	153893636	153893636	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:153893636G>A	uc003inf.2	+	10	1401	c.1326G>A	c.(1324-1326)CTG>CTA	p.L442L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	442	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CCATGAAACTGGATGAATGCT	0.393		NaN											0	0	0	0.010504	0	19	81				
GUCY1A3	2982	broad.mit.edu	37	4	156638380	156638380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:156638380C>T	uc003iov.2	+	9	2178	c.1642C>T	c.(1642-1644)CAG>TAG	p.Q548*	GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003iow.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqd.2_Nonsense_Mutation_p.Q547*|GUCY1A3_uc003iox.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc003ioz.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ioy.2_Nonsense_Mutation_p.Q548*|GUCY1A3_uc010iqe.2_Nonsense_Mutation_p.Q313*|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Nonsense_Mutation_p.Q548*	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	548	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCATGCTGTTCAGATAGCGCT	0.423		NaN											0	0	0	0.0333	0	14	54				
EXOC3	11336	broad.mit.edu	37	5	453801	453801	+	Silent	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:453801T>A	uc003jba.2	+	4	809	c.681T>A	c.(679-681)CTT>CTA	p.L227L		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	238					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCGCATACTTGACCGGAAAA	0.507		NaN											0	0	0	0.01892	0	21	91				
ADCY2	108	broad.mit.edu	37	5	7773096	7773096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:7773096C>T	uc003jdz.1	+	18	2333	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W	ADCY2_uc011cmo.1_Missense_Mutation_p.R576W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	756					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CGTGTTCCTGCGGGTAAACTA	0.502		NaN											0	0	0	0.037714	0	26	126				
SEMA5A	9037	broad.mit.edu	37	5	9197325	9197325	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:9197325C>T	uc003jek.2	-	10	1735	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	341	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AGGCCGAGCGCGAGTTTTCTT	0.592		NaN											0	0	0	0.007413	0	18	64				
TRIO	7204	broad.mit.edu	37	5	14387596	14387596	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:14387596G>C	uc003jff.2	+	22	3626	c.3620G>C	c.(3619-3621)TGT>TCT	p.C1207S	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.C1158S|TRIO_uc003jfh.1_Missense_Mutation_p.C856S	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1207	Spectrin 4.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GATGGCTTTTGTGAAAAAGGG	0.448		NaN											0	0	0	0.014323	0	19	73				
ITGA2	3673	broad.mit.edu	37	5	52377489	52377489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:52377489C>T	uc003joy.2	+	26	3250	c.3107C>T	c.(3106-3108)TCT>TTT	p.S1036F	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S960F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	1036	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCTGTATCTTTCAAAAGT	0.398		NaN											0	0	0	0.00308	0	6	20				
MAP1B	4131	broad.mit.edu	37	5	71490041	71490041	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:71490041G>A	uc003kbw.3	+	5	1100	c.859G>A	c.(859-861)GGA>AGA	p.G287R	MAP1B_uc010iyw.1_Missense_Mutation_p.G304R|MAP1B_uc010iyx.1_Missense_Mutation_p.G161R|MAP1B_uc010iyy.1_Missense_Mutation_p.G161R	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	287						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCAATGGCGGATCAGAGAG	0.483		NaN											0	0	0	0.0333	0	17	95				
ANKRD34B	340120	broad.mit.edu	37	5	79854455	79854455	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:79854455C>A	uc010jam.2	-	4	1734	c.1384G>T	c.(1384-1386)GAT>TAT	p.D462Y	ANKRD34B_uc003kgw.2_Missense_Mutation_p.D462Y|ANKRD34B_uc010jan.2_Missense_Mutation_p.D462Y	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	462						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ACATTGATATCTGAGATGGGA	0.413		NaN											1	0	6.97489e-18	0.021022	7.8521e-18	31	160				
YTHDC2	64848	broad.mit.edu	37	5	112915339	112915339	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:112915339A>G	uc003kqn.2	+	24	3484	c.3301A>G	c.(3301-3303)AAT>GAT	p.N1101D		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1101							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACTACAGCTAATTTGGCAGC	0.373		NaN											0	0	0	0.01441	0	61	138				
PAIP2	51247	broad.mit.edu	37	5	138700267	138700267	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:138700267A>T	uc003led.2	+	3	330	c.153A>T	c.(151-153)TTA>TTT	p.L51F	PAIP2_uc003lee.2_Missense_Mutation_p.L51F|PAIP2_uc003lef.2_Missense_Mutation_p.L51F	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	51	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAGGAGTTATGGGAAGAAG	0.348		NaN											0	0	0	0.008291	0	7	49				
PCDHA8	56140	broad.mit.edu	37	5	140222772	140222772	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140222772C>T	uc003lhs.2	+	1	1866	c.1866C>T	c.(1864-1866)TTC>TTT	p.F622F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F622F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	622	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.647		NaN											0	0	0	0.01441	0	49	109				
PCDHB14	56122	broad.mit.edu	37	5	140603436	140603436	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140603436A>G	uc003ljb.2	+	1	359	c.359A>G	c.(358-360)GAG>GGG	p.E120G	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	120	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGGTTTGAGCTGTGTGTC	0.423		NaN											0	0	0	0.009535	0	24	85				
POU4F3	5459	broad.mit.edu	37	5	145719138	145719138	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:145719138G>C	uc003loa.2	+	2	237	c.148G>C	c.(148-150)GAT>CAT	p.D50H		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	50					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGCTTTGATGAGAGCCT	0.537		NaN											0	0	0	0.017118	0	31	46				
KIF4B	285643	broad.mit.edu	37	5	154395261	154395261	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:154395261G>A	uc010jih.1	+	1	2002	c.1842G>A	c.(1840-1842)AAG>AAA	p.K614K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	614	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTGAAGAAGAAACTGAATG	0.463		NaN											0	0	0	0.019004	0	29	54				
ITK	3702	broad.mit.edu	37	5	156679642	156679642	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:156679642C>T	uc003lwo.1	+	17	1899	c.1817C>T	c.(1816-1818)TCC>TTC	p.S606F		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	606	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCCTTCTCCAGACTGCTG	0.468		NaN	T	SYK	peripheral T-cell lymphoma								0	0	0	0.01441	0	37	67				
TFAP2A	7020	broad.mit.edu	37	6	10404842	10404842	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:10404842G>A	uc003myr.2	-	4	915	c.663C>T	c.(661-663)CTC>CTT	p.L221L	TFAP2A_uc003myq.2_Silent_p.L215L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Silent_p.L221L|TFAP2A_uc003myt.2_Silent_p.L217L|TFAP2A_uc003myu.1_Silent_p.L221L	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	221					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGTGGAGCTGAGGAGCGAGA	0.622		NaN											0	0	0	0.0333	0	14	29				
HSPA1L	3305	broad.mit.edu	37	6	31777967	31777967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:31777967C>T	uc003nxh.2	-	2	1966	c.1783G>A	c.(1783-1785)GAT>AAT	p.D595N	HSPA1L_uc010jte.2_Missense_Mutation_p.D595N	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	595					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CTCTTATGATCAAACTCATCT	0.448		NaN											0	0	0	0.030466	0	32	97				
GPSM3	63940	broad.mit.edu	37	6	32159216	32159216	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:32159216T>C	uc003oay.3	-	4	803	c.410A>G	c.(409-411)GAG>GGG	p.E137G	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.E114G|GPSM3_uc003oaz.2_Missense_Mutation_p.E137G	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	137	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CAGCAGCAACTCCAGGAGCTC	0.642		NaN											0	0	0	0.010818	0	31	51				
COL21A1	81578	broad.mit.edu	37	6	56006588	56006588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:56006588C>G	uc003pcs.2	-	12	1769	c.1537G>C	c.(1537-1539)GAC>CAC	p.D513H	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D513H|COL21A1_uc003pcu.1_Missense_Mutation_p.D510H	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	513					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTACCTTGTCACCATCTCGC	0.388		NaN											0	0	0	0.01892	0	19	59				
ZNF292	23036	broad.mit.edu	37	6	87971379	87971379	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:87971379A>G	uc003plm.3	+	8	8073	c.8032A>G	c.(8032-8034)ACT>GCT	p.T2678A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAGATTGCACTGAGCTTGT	0.348		NaN											0	0	0	0.02938	0	7	16				
AIM1	202	broad.mit.edu	37	6	106975304	106975304	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:106975304G>C	uc003prh.2	+	5	3800	c.3313G>C	c.(3313-3315)GAT>CAT	p.D1105H		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1105	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCAGAGTCTGATAAGCCAGT	0.403		NaN											0	0	0	0.01441	0	52	258				
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:129573422G>A	uc003qbn.2	+	14	2183	c.2078G>A	c.(2077-2079)GGG>GAG	p.G693E	LAMA2_uc003qbo.2_Missense_Mutation_p.G693E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	693	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448		NaN											0	0	0	0.00308	0	7	62				
EPB41L2	2037	broad.mit.edu	37	6	131190961	131190961	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:131190961C>T	uc003qch.2	-	15	2531	c.2349G>A	c.(2347-2349)CCG>CCA	p.P783P	EPB41L2_uc003qce.1_Silent_p.P161P|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Silent_p.P713P|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Silent_p.P713P|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Silent_p.P180P	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	783					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGCTGCCGGGCGGGGTT	0.577		NaN											0	0	0	0.01441	0	47	220				
TAAR9	134860	broad.mit.edu	37	6	132860331	132860331	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:132860331T>A	uc011eci.1	+	2	905	c.903T>A	c.(901-903)TAT>TAA	p.Y301*		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9	301	Helical; Name=7; (Potential).					plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGTGTGTTTATTATAATTCAG	0.348		NaN											0	0	0	0.014758	0	4	12				
SHPRH	257218	broad.mit.edu	37	6	146256489	146256489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:146256489C>G	uc003qlf.2	-	12	3057	c.2658G>C	c.(2656-2658)AAG>AAC	p.K886N	SHPRH_uc003qld.2_Missense_Mutation_p.K886N|SHPRH_uc003qle.2_Missense_Mutation_p.K886N|SHPRH_uc003qlg.1_Missense_Mutation_p.K442N|SHPRH_uc003qlj.1_Missense_Mutation_p.K775N|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	886					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGGATTCTTCTTGCAGTAAG	0.393		NaN											0	0	0	0.020292	0	14	47				
IPCEF1	26034	broad.mit.edu	37	6	154521101	154521101	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:154521101G>T	uc003qpx.2	-	10	764	c.608C>A	c.(607-609)ACA>AAA	p.T203K	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Missense_Mutation_p.T74K|IPCEF1_uc003qpw.2_Missense_Mutation_p.T204K|IPCEF1_uc010kjh.2_Missense_Mutation_p.T204K	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	203	Ser-rich.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						TGTCTTCACTGTATTTTCCAG	0.433		NaN											1	0	0.00621372	0.006214	0.00631699	8	91				
FNDC1	84624	broad.mit.edu	37	6	159653694	159653694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:159653694C>G	uc010kjv.2	+	11	2350	c.2150C>G	c.(2149-2151)TCA>TGA	p.S717*	FNDC1_uc010kjw.1_Nonsense_Mutation_p.S602*	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	717	Ser-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCACCCTCAAGACTTTCT	0.657		NaN											0	0	0	0.02938	0	7	16				
ZNF12	7559	broad.mit.edu	37	7	6730643	6730643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730643G>A	uc003sqt.1	-	5	2484	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	ZNF12_uc011jxa.1_Missense_Mutation_p.R482W|ZNF12_uc003sqs.1_Missense_Mutation_p.R606W	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	644	C2H2-type 14.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATGACATCCGAGAGAAGGCT	0.393		NaN											0	0	0	0.01441	0	46	95				
ZNF12	7559	broad.mit.edu	37	7	6730858	6730858	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730858G>A	uc003sqt.1	-	5	2269	c.1715C>T	c.(1714-1716)TCA>TTA	p.S572L	ZNF12_uc011jxa.1_Missense_Mutation_p.S410L|ZNF12_uc003sqs.1_Missense_Mutation_p.S534L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	572					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTTCTCTCCTGAATGAATTCT	0.413		NaN											0	0	0	0.012319	0	16	65				
ZNF12	7559	broad.mit.edu	37	7	6730881	6730881	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730881G>C	uc003sqt.1	-	5	2246	c.1692C>G	c.(1690-1692)CTC>CTG	p.L564L	ZNF12_uc011jxa.1_Silent_p.L402L|ZNF12_uc003sqs.1_Silent_p.L526L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	564	C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GATGTATAGTGAGGTATGACA	0.408		NaN											0	0	0	0.008871	0	15	58				
DGKB	1607	broad.mit.edu	37	7	14724975	14724975	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:14724975C>T	uc003ssz.2	-	9	911	c.724G>A	c.(724-726)GAT>AAT	p.D242N	DGKB_uc011jxt.1_Missense_Mutation_p.D235N|DGKB_uc003sta.2_Missense_Mutation_p.D242N|DGKB_uc011jxu.1_Missense_Mutation_p.D242N|DGKB_uc011jxv.1_Missense_Mutation_p.D242N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	242					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TGCTGTCCATCATCCTTCACG	0.463		NaN											0	0	0	0.021523	0	19	72				
DNAH11	8701	broad.mit.edu	37	7	21723453	21723453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:21723453G>T	uc003svc.2	+	33	5564	c.5533G>T	c.(5533-5535)GAG>TAG	p.E1845*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1845	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TCACCGATGGGAGGATACCCA	0.458		NaN							Kartagener_syndrome				1	0	3.28156e-27	0.01441	3.76353e-27	50	279				
STK31	56164	broad.mit.edu	37	7	23802426	23802426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:23802426G>A	uc003sws.3	+	11	1367	c.1300G>A	c.(1300-1302)GGG>AGG	p.G434R	STK31_uc003swt.3_Missense_Mutation_p.G411R|STK31_uc011jze.1_Missense_Mutation_p.G434R|STK31_uc010kuq.2_Missense_Mutation_p.G411R	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	434							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CCAGAGTGAAGGGAATATTTT	0.333		NaN											0	0	0	0.027894	0	37	66				
ADCYAP1R1	117	broad.mit.edu	37	7	31132288	31132288	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:31132288G>T	uc003tca.1	+	13	1208	c.985G>T	c.(985-987)GTC>TTC	p.V329F	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V308F|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V329F|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.V31F	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	329	Helical; Name=5; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TGGCATTATCGTCATCCTTGT	0.428		NaN											1	0	4.7546e-09	0.028581	5.20878e-09	15	73				
OGDH	4967	broad.mit.edu	37	7	44734097	44734097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:44734097C>T	uc003tln.2	+	12	1699	c.1590C>T	c.(1588-1590)ATC>ATT	p.I530I	OGDH_uc011kbx.1_Silent_p.I526I|OGDH_uc011kby.1_Silent_p.I380I|OGDH_uc003tlp.2_Silent_p.I541I|OGDH_uc011kbz.1_Silent_p.I325I|OGDH_uc003tlo.1_Silent_p.I363I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	530					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	ACAAGCAGATCCGCAAGCAGA	0.572		NaN											0	0	0	0.037714	0	25	61				
HUS1	3364	broad.mit.edu	37	7	48004979	48004979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:48004979G>A	uc003tod.1	-	8	947	c.817C>T	c.(817-819)CAG>TAG	p.Q273*	HUS1_uc003toe.1_Nonsense_Mutation_p.Q273*|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	273					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				ATGAAATACTGAAGGGACACG	0.483		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.025465	0	33	115				
CCT6A	908	broad.mit.edu	37	7	56126340	56126340	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56126340C>G	uc003trl.1	+	8	1077	c.913C>G	c.(913-915)CTT>GTT	p.L305V	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.L260V|CCT6A_uc011kcu.1_Missense_Mutation_p.L274V|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	305					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTAGATGCTCTTTCAAAAGA	0.343		NaN											0	0	0	0.0333	0	14	45				
CROT	54677	broad.mit.edu	37	7	87020948	87020948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87020948C>T	uc003uit.2	+	14	1590	c.1345C>T	c.(1345-1347)CAT>TAT	p.H449Y	CROT_uc003uiu.2_Missense_Mutation_p.H477Y	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	449					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACATTTTTATCATGGCCGTAC	0.388		NaN											0	0	0	0.037714	0	23	46				
DBF4	10926	broad.mit.edu	37	7	87529553	87529553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87529553A>G	uc003ujf.1	+	9	1202	c.698A>G	c.(697-699)TAT>TGT	p.Y233C	DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Missense_Mutation_p.Y9C|DBF4_uc011khf.1_Intron	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	233					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGGCCATTTTATCTTCAGCTG	0.299		NaN											0	0	0	0.008291	0	9	66				
MTERF	7978	broad.mit.edu	37	7	91503486	91503486	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:91503486G>C	uc003ulb.1	-	2	666	c.622C>G	c.(622-624)CTT>GTT	p.L208V	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.L208V|MTERF_uc011khm.1_Missense_Mutation_p.L188V|MTERF_uc010leu.1_Missense_Mutation_p.L188V	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	208					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTCAGATCAAGACTATTGGAG	0.383		NaN											0	0	0	0.013537	0	12	66				
COL1A2	1278	broad.mit.edu	37	7	94053674	94053674	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:94053674G>A	uc003ung.1	+	41	3063	c.2592G>A	c.(2590-2592)CAG>CAA	p.Q864Q	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	864					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGGTCCTCAGGGTCTTCTTG	0.498		NaN								HNSCC(75;0.22)			0	0	0	0.020292	0	10	94				
TMEM130	222865	broad.mit.edu	37	7	98449087	98449087	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:98449087G>C	uc003upo.2	-	6	1152	c.963C>G	c.(961-963)ATC>ATG	p.I321M	TMEM130_uc011kiq.1_Missense_Mutation_p.I302M|TMEM130_uc011kir.1_Missense_Mutation_p.I321M|TMEM130_uc003upn.2_Missense_Mutation_p.I219M	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	321	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCTTGCTGATGATATTCT	0.582		NaN											0	0	0	0.016723	0	11	106				
ZKSCAN5	23660	broad.mit.edu	37	7	99123756	99123756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:99123756C>T	uc003uqv.2	+	6	1217	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.R365W|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.R292W|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.R101W	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	365	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TATTCAGCATCGGCGCATCCA	0.537		NaN											0	0	0	0.020292	0	14	82				
VGF	7425	broad.mit.edu	37	7	100806828	100806828	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:100806828C>T	uc003uxx.3	-	2	1515	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	433	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctgtcccctcggcctccttc	0.493		NaN											0	0	0	0.004482	0	9	9				
PTPRZ1	5803	broad.mit.edu	37	7	121650934	121650934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:121650934G>A	uc003vjy.2	+	12	2229	c.1834G>A	c.(1834-1836)GAA>AAA	p.E612K	PTPRZ1_uc003vjz.2_Missense_Mutation_p.E612K|PTPRZ1_uc011knt.1_Missense_Mutation_p.E62K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	612	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATTTTCCTCCGAAAACCCAGA	0.418		NaN											0	0	0	0.024245	0	12	33				
PLXNA4	91584	broad.mit.edu	37	7	131866328	131866328	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:131866328C>T	uc003vra.3	-	18	3533	c.3304G>A	c.(3304-3306)GCT>ACT	p.A1102T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1102	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGACCCAGAGCGAGGGCGGGC	0.577		NaN											0	0	0	0.014323	0	21	36				
DGKI	9162	broad.mit.edu	37	7	137150661	137150661	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:137150661C>T	uc003vtt.2	-	27	2630	c.2629G>A	c.(2629-2631)GCC>ACC	p.A877T	DGKI_uc003vtu.2_Missense_Mutation_p.A587T	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	877					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CACCCCGAGGCTTGTTCCACC	0.542		NaN											0	0	0	0.013537	0	10	59				
FAM115C	285966	broad.mit.edu	37	7	143417071	143417071	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:143417071C>G	uc003wdf.2	+	3	1002	c.919C>G	c.(919-921)CTA>GTA	p.L307V	FAM115C_uc003wdg.2_Missense_Mutation_p.L26V|FAM115C_uc011ktk.1_Missense_Mutation_p.L307V|FAM115C_uc003wdh.2_Missense_Mutation_p.L307V|FAM115C_uc011ktm.1_Missense_Mutation_p.L307V|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.L143V|FAM115C_uc003wdi.1_Missense_Mutation_p.L26V	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	307											0						GAACACAAATCTAAAAGATCT	0.572		NaN											0	0	0	0.014758	0	5	26				
ANK1	286	broad.mit.edu	37	8	41554068	41554068	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:41554068A>T	uc003xok.2	-	26	2857	c.2773T>A	c.(2773-2775)TCC>ACC	p.S925T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S241T|ANK1_uc003xoi.2_Missense_Mutation_p.S925T|ANK1_uc003xoj.2_Missense_Mutation_p.S925T|ANK1_uc003xol.2_Missense_Mutation_p.S925T|ANK1_uc003xom.2_Missense_Mutation_p.S966T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	925	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTCTCATGGAACCACCCCGG	0.637		NaN											0	0	0	0.020292	0	14	25				
KIAA0146	23514	broad.mit.edu	37	8	48309024	48309024	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:48309024C>T	uc003xqd.2	+	6	623	c.614C>T	c.(613-615)CCT>CTT	p.P205L	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.P205L|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P135L|KIAA0146_uc011ldd.1_Missense_Mutation_p.P145L|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	205											0		Lung NSC(58;0.175)				TCAGAATCCCCTCACAAATAC	0.363		NaN											0	0	0	0.024245	0	14	87				
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:71520314C>G	uc003xyo.1	-	1	291	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41	Helical; (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692		NaN											0	0	0	0.004672	0	3	33				
ZNF572	137209	broad.mit.edu	37	8	125987911	125987911	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125987911C>T	uc003yrr.2	+	2	184	c.29C>T	c.(28-30)TCA>TTA	p.S10L		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTTGGTCTCAGATTCTAAC	0.378		NaN								HNSCC(60;0.17)			0	0	0	0.014323	0	16	117				
ZNF572	137209	broad.mit.edu	37	8	125988884	125988884	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125988884C>T	uc003yrr.2	+	3	529	c.374C>T	c.(373-375)TCA>TTA	p.S125L		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGCAGAATTCATCCTTTGTA	0.428		NaN								HNSCC(60;0.17)			0	0	0	0.020292	0	14	120				
ZNF572	137209	broad.mit.edu	37	8	125989705	125989705	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125989705C>G	uc003yrr.2	+	3	1350	c.1195C>G	c.(1195-1197)CTC>GTC	p.L399V		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	399	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGCTCCCATCTCATTAGACA	0.428		NaN								HNSCC(60;0.17)			0	0	0	0.008871	0	15	107				
EFR3A	23167	broad.mit.edu	37	8	132991207	132991207	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:132991207G>T	uc003yte.2	+	13	1641	c.1440G>T	c.(1438-1440)TTG>TTT	p.L480F		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	480						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGTTGGTCTTGGAAGTAATGC	0.418		NaN											1	0	3.65163e-15	0.030593	4.09831e-15	21	184				
PLEC	5339	broad.mit.edu	37	8	144991923	144991923	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:144991923G>T	uc003zaf.1	-	32	12647	c.12477C>A	c.(12475-12477)CTC>CTA	p.L4159L	PLEC_uc003zab.1_Silent_p.L4022L|PLEC_uc003zac.1_Silent_p.L4026L|PLEC_uc003zad.2_Silent_p.L4022L|PLEC_uc003zae.1_Silent_p.L3990L|PLEC_uc003zag.1_Silent_p.L4000L|PLEC_uc003zah.2_Silent_p.L4008L|PLEC_uc003zaj.2_Silent_p.L4049L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4159	Globular 2.|Plectin 24.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGAGGGAGATGAGCTTCCCAG	0.632		NaN											1	0	2.61681e-11	0.020292	2.91021e-11	12	54				
MFSD3	113655	broad.mit.edu	37	8	145736008	145736008	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:145736008G>T	uc003zdi.1	+	3	1023	c.858G>T	c.(856-858)GTG>GTT	p.V286V		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	286	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGGTCGGTGCTGCGCTTCC	0.617		NaN											1	0	2.68985e-26	0.01441	3.07531e-26	36	190				
DMRT2	10655	broad.mit.edu	37	9	1057268	1057268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:1057268C>T	uc003zha.2	+	4	1881	c.1681C>T	c.(1681-1683)CAG>TAG	p.Q561*	DMRT2_uc003zgx.3_Nonsense_Mutation_p.Q328*|DMRT2_uc010mgz.2_Nonsense_Mutation_p.Q328*|DMRT2_uc003zgy.3_Nonsense_Mutation_p.Q405*|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Nonsense_Mutation_p.Q561*	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	561					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCGTGTCTCTCAGTGAAAGGC	0.383		NaN											0	0	0	0.012319	0	18	112				
GLIS3	169792	broad.mit.edu	37	9	3898796	3898796	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:3898796C>G	uc003zhw.1	-	6	1752	c.1558G>C	c.(1558-1560)GAT>CAT	p.D520H	GLIS3_uc003zhx.1_Missense_Mutation_p.D675H|GLIS3_uc010mhf.1_Missense_Mutation_p.D69H|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.D453H|GLIS3_uc003zhz.1_Missense_Mutation_p.D453H|C9orf70_uc003zia.2_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	520					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGAGGCAATCTGTGAGCAGG	0.587		NaN											0	0	0	0.010818	0	29	55				
KIAA1432	57589	broad.mit.edu	37	9	5746003	5746003	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:5746003G>A	uc003zji.2	+	10	1024	c.931G>A	c.(931-933)GAC>AAC	p.D311N	KIAA1432_uc003zjh.2_Missense_Mutation_p.D311N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D311N|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	390						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AATTGAGTCTGACCTCAGGAG	0.408		NaN											0	0	0	0.024334	0	21	126				
IFNA16	3449	broad.mit.edu	37	9	21216778	21216778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:21216778G>C	uc003zor.1	-	1	533	c.527C>G	c.(526-528)TCT>TGT	p.S176C	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAAGGATCT	0.373		NaN											0	0	0	0.01441	0	169	278				
LINGO2	158038	broad.mit.edu	37	9	27950351	27950351	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:27950351G>A	uc003zqu.1	-	2	513	c.319C>T	c.(319-321)CTG>TTG	p.L107L	LINGO2_uc010mjf.1_Silent_p.L107L|LINGO2_uc003zqv.1_Silent_p.L107L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	107	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGAACGCAGGTTAAAGAGA	0.448		NaN											0	0	0	0.01441	0	78	121				
TAF1L	138474	broad.mit.edu	37	9	32632499	32632499	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:32632499G>A	uc003zrg.1	-	1	3169	c.3079C>T	c.(3079-3081)CGT>TGT	p.R1027C	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1027					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAAATTTACGTAGAAGTTGC	0.473		NaN											0	0	0	0.01441	0	42	275				
TRPM6	140803	broad.mit.edu	37	9	77376712	77376712	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:77376712G>C	uc004ajl.1	-	27	4923	c.4685C>G	c.(4684-4686)TCT>TGT	p.S1562C	TRPM6_uc004ajk.1_Missense_Mutation_p.S1557C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S518C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1562	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TATTTCTGAAGAGCCTGAAAG	0.428		NaN											0	0	0	0.008871	0	15	43				
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:79898509C>T	uc004akr.2	+	31	3542	c.3282C>T	c.(3280-3282)AAC>AAT	p.N1094N	VPS13A_uc004akp.3_Silent_p.N1094N|VPS13A_uc004akq.3_Silent_p.N1094N|VPS13A_uc004aks.2_Silent_p.N1055N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1094					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CTGAAATAAACGCAAAGCTAA	0.284		NaN											0	0	0	0.014323	0	18	28				
TLE1	7088	broad.mit.edu	37	9	84230956	84230956	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:84230956G>C	uc004aly.2	-	11	1300	c.859C>G	c.(859-861)CCA>GCA	p.P287A	TLE1_uc004alz.2_Missense_Mutation_p.P297A|TLE1_uc011lsr.1_Missense_Mutation_p.P287A|TLE1_uc004ama.1_Missense_Mutation_p.P287A|TLE1_uc011lss.1_Missense_Mutation_p.P213A	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	287	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GTGGAAGCTGGACTGCTAGAA	0.502		NaN											0	0	0	0.024245	0	15	75				
MRPL50	54534	broad.mit.edu	37	9	104153059	104153059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:104153059G>C	uc004bbe.2	-	2	211	c.166C>G	c.(166-168)CGA>GGA	p.R56G	MRPL50_uc011lvj.1_Missense_Mutation_p.R56G	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	56						mitochondrion|ribosome					0		Acute lymphoblastic leukemia(62;0.0559)				GCTCGGCTTCGTAAAGGTGGA	0.408		NaN											0	0	0	0.021523	0	18	58				
OR13C5	138799	broad.mit.edu	37	9	107360932	107360932	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:107360932T>C	uc011lvp.1	-	1	763	c.763A>G	c.(763-765)ATC>GTC	p.I255V		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ATGAGGAAGATGGTCCCACAG	0.438		NaN											0	0	0	0.017118	0	30	49				
SRPX	8406	broad.mit.edu	37	X	38019289	38019289	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:38019289G>A	uc004ddy.1	-	7	1022	c.936C>T	c.(934-936)GGC>GGT	p.G312G	SRPX_uc004ddz.1_Silent_p.G292G|SRPX_uc011mkh.1_Silent_p.G253G|SRPX_uc011mki.1_Silent_p.G312G	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	312	Sushi 3.				cell adhesion	cell surface|membrane					0						TGGGCTCCGTGCCAGACCAAG	0.567		NaN											0	0	0	0.014758	0	4	7				
SMC1A	8243	broad.mit.edu	37	X	53438989	53438989	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:53438989C>T	uc004dsg.2	-	6	1138	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	SMC1A_uc011moe.1_Missense_Mutation_p.E335K|SMC1A_uc011mof.1_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	357	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CTCTGACTCTCTTCTTCCATC	0.527		NaN											0	0	0	0.009096	0	4	6				
USP51	158880	broad.mit.edu	37	X	55514287	55514287	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:55514287C>G	uc004dun.1	-	2	1165	c.1086G>C	c.(1084-1086)CTG>CTC	p.L362L	USP51_uc011moo.1_Silent_p.L66L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	362					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TTAGCCCTCTCAGGCCTACAG	0.403		NaN											0	0	0	0.014323	0	20	32				
PHKA1	5255	broad.mit.edu	37	X	71840611	71840611	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:71840611A>C	uc004eax.3	-	19	2402	c.2101T>G	c.(2101-2103)TCC>GCC	p.S701A	PHKA1_uc004eay.3_Missense_Mutation_p.S701A|PHKA1_uc011mqi.1_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	701					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GTCACCAAGGACATTAAGTCG	0.552		NaN											0	0	0	0.021553	0	5	38				
L1CAM	3897	broad.mit.edu	37	X	153131202	153131202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153131202G>A	uc004fjb.2	-	19	2612	c.2504C>T	c.(2503-2505)CCG>CTG	p.P835L	L1CAM_uc004fjc.2_Missense_Mutation_p.P835L|L1CAM_uc010nuo.2_Missense_Mutation_p.P830L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	835	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTCCACCGGCCGCCACTT	0.587		NaN											0	0	0	0.01441	0	35	98				
DNASE1L1	1774	broad.mit.edu	37	X	153631496	153631496	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153631496G>A	uc004fks.1	-	7	752	c.561C>T	c.(559-561)TGC>TGT	p.C187C	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.C187C|DNASE1L1_uc004fku.1_Silent_p.C187C|DNASE1L1_uc004fkv.1_Silent_p.C187C|DNASE1L1_uc004fkw.1_Silent_p.C187C	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	187					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGTGAAGCGCAGTCAGCAT	0.602		NaN											0	0	0	0.021553	0	5	84				
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:16260826G>C	uc001axk.1	+	11	8295	c.8091G>C	c.(8089-8091)GTG>GTC	p.V2697V	SPEN_uc010obp.1_Silent_p.V2656V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2697	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597		NaN											0	0	0	0.00308	0	7	63				
GSTM5	2949	broad.mit.edu	37	1	110257779	110257779	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:110257779G>C	uc001dyn.2	+	7	555	c.484G>C	c.(484-486)GAT>CAT	p.D162H	GSTM5_uc010ovu.1_Missense_Mutation_p.D121H	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	162	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTGCCTATGATGTCCTTGA	0.468		NaN											0	0	0	0.006214	0	8	114				
NGF	4803	broad.mit.edu	37	1	115828746	115828746	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:115828746C>T	uc001efu.1	-	3	840	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	224					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGTATCTATCCGGATAAACCG	0.572		NaN											0	0	0	0.00308	0	7	89				
ANKRD34A	284615	broad.mit.edu	37	1	145473839	145473839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:145473839C>T	uc001enq.1	+	4	1804	c.511C>T	c.(511-513)CCT>TCT	p.P171S	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	171											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTGGAGGACCCTGCTCCCGC	0.627		NaN											0	0	0	0.013726	0	27	77				
PI4KB	5298	broad.mit.edu	37	1	151271497	151271497	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:151271497A>C	uc001ext.2	-	9	2217	c.1802T>G	c.(1801-1803)CTT>CGT	p.L601R	PI4KB_uc001exr.2_Missense_Mutation_p.L613R|PI4KB_uc001exs.2_Missense_Mutation_p.L586R|PI4KB_uc001exu.2_Missense_Mutation_p.L586R|PI4KB_uc010pcw.1_Missense_Mutation_p.L269R	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	601	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAATCACAAGAATCTTGTA	0.468		NaN											0	0	0	0.01441	0	44	101				
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:154988705G>T	uc001fgk.3	+	4	1322	c.1164G>T	c.(1162-1164)AAG>AAT	p.K388N	ZBTB7B_uc009wpa.2_Missense_Mutation_p.K388N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.K422N|ZBTB7B_uc010peq.1_Missense_Mutation_p.K422N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.K388N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388	C2H2-type 2.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632		NaN											1	0	7.34454e-26	0.01441	8.49987e-26	43	74				
SPTA1	6708	broad.mit.edu	37	1	158639226	158639226	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:158639226T>A	uc001fst.1	-	14	2004	c.1805A>T	c.(1804-1806)AAA>ATA	p.K602I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	602	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGCCAACTTTTTCTTCTTGTT	0.388		NaN											0	0	0	0.01441	0	94	189				
RC3H1	149041	broad.mit.edu	37	1	173916585	173916585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:173916585T>A	uc001gju.3	-	14	2746	c.2659A>T	c.(2659-2661)AAA>TAA	p.K887*	RC3H1_uc010pms.1_Nonsense_Mutation_p.K887*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.K887*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.K887*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	887					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TATATAGTTTTGGAAGTTCGT	0.463		NaN											0	0	0	0.013537	0	8	80				
C1orf125	126859	broad.mit.edu	37	1	179335702	179335702	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:179335702A>G	uc001gmo.2	+	2	185	c.58A>G	c.(58-60)AAA>GAA	p.K20E	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K20E	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	20											0						ATCTGAGAGCAAAAAGTTAAA	0.418		NaN											0	0	0	0.013537	0	9	49				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:186276981A>G	uc001gru.3	+	7	2181	c.2130A>G	c.(2128-2130)AAA>AAG	p.K710K	PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTACCCCTAAAGGGACTGCTC	0.582		NaN											0	0	0	0.001168	0	6	118				
CR1	1378	broad.mit.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:207758216G>A	uc001hfy.2	+	25	4315	c.4175G>A	c.(4174-4176)CGT>CAT	p.R1392H	CR1_uc009xcl.1_Missense_Mutation_p.R942H|CR1_uc001hfx.2_Missense_Mutation_p.R1842H	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1392	Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTTTCTGTTCGTGCTGGTCAG	0.488		NaN											0	0	0	0.006122	0	16	160				
OR2T4	127074	broad.mit.edu	37	1	248525736	248525736	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:248525736G>T	uc001ieh.1	+	1	854	c.854G>T	c.(853-855)GGG>GTG	p.G285V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	285	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTCTATGGGGCTGCCATC	0.552		NaN											1	0	2.94398e-08	0.007413	3.22585e-08	14	130				
E2F8	79733	broad.mit.edu	37	11	19258890	19258890	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:19258890A>C	uc001mpm.2	-	4	944	c.422T>G	c.(421-423)ATC>AGC	p.I141S	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I141S|E2F8_uc001mpo.1_Missense_Mutation_p.I141S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	141	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTCAAGGCAGATGTCATTATT	0.373		NaN											0	0	0	0.004482	0	7	36				
OR8H3	390152	broad.mit.edu	37	11	55890296	55890296	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:55890296G>C	uc001nii.1	+	1	448	c.448G>C	c.(448-450)GTG>CTG	p.V150L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TGGGCCTTATGTGATTGGCTT	0.453		NaN											0	0	0	0.003163	0	15	73				
GLYATL2	219970	broad.mit.edu	37	11	58604562	58604562	+	Missense_Mutation	SNP	T	T	C	rs140678694	by1000genomes	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:58604562T>C	uc001nnd.3	-	5	533	c.402A>G	c.(400-402)ATA>ATG	p.I134M	GLYATL2_uc009ymq.2_Missense_Mutation_p.I134M	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	134						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GTAATTCCGGTATAAAGAGGA	0.388		NaN											0	0	0	0.000602	0	5	68				
SHANK2	22941	broad.mit.edu	37	11	70333340	70333340	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:70333340C>T	uc001oqc.2	-	21	3136	c.3058G>A	c.(3058-3060)GAG>AAG	p.E1020K	SHANK2_uc010rqn.1_Missense_Mutation_p.E432K|SHANK2_uc001opz.2_Missense_Mutation_p.E425K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	641					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCTGTCCTCCACGTTGGAC	0.627		NaN											0	0	0	0.004007	0	12	195				
IQSEC3	440073	broad.mit.edu	37	12	248024	248024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:248024G>A	uc001qhw.1	+	1	592	c.586G>A	c.(586-588)GTC>ATC	p.V196I	IQSEC3_uc001qhu.1_Missense_Mutation_p.V196I|IQSEC3_uc001qht.1_Missense_Mutation_p.V281I|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	499					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAACATATCCGTCTCCTCCTC	0.711		NaN											0	0	0	0.004672	0	3	31				
BAZ2A	11176	broad.mit.edu	37	12	57009072	57009072	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:57009072G>C	uc001slq.1	-	3	656	c.462C>G	c.(460-462)ACC>ACG	p.T154T	BAZ2A_uc001slp.1_Silent_p.T152T|BAZ2A_uc010sqr.1_Silent_p.T154T|BAZ2A_uc009zow.1_Silent_p.T152T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	154					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TGGGACTCTGGGTACCGTTGG	0.517		NaN											0	0	0	0.013537	0	11	31				
DNAH10	196385	broad.mit.edu	37	12	124416242	124416242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:124416242G>A	uc001uft.3	+	74	12647	c.12622G>A	c.(12622-12624)GAA>AAA	p.E4208K	DNAH10_uc001ufu.3_Missense_Mutation_p.E121K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4208					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAAGAAATAGAAAACAAGAT	0.517		NaN											0	0	0	0.001984	0	7	26				
RB1	5925	broad.mit.edu	37	13	49039215	49039215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:49039215A>T	uc001vcb.2	+	22	2459	c.2293A>T	c.(2293-2295)AAA>TAA	p.K765*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	765	Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGAGACTGAAAACAAATAT	0.333		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.010729	0	9	20		Valid		
UTP14C	9724	broad.mit.edu	37	13	52605023	52605023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:52605023G>C	uc001vgb.2	+	2	2618	c.2083G>C	c.(2083-2085)GAA>CAA	p.E695Q	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	695					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCGGCAATTTGAAAGGACCAT	0.488		NaN											0	0	0	0.00308	0	6	126				
DACH1	1602	broad.mit.edu	37	13	72204709	72204709	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:72204709C>T	uc010thn.1	-	4	1528	c.1105G>A	c.(1105-1107)GGG>AGG	p.G369R	DACH1_uc010tho.1_Missense_Mutation_p.G369R|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	369	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCATGTCCCCGTTTTCAGAG	0.343		NaN											0	0	0	0.000602	0	4	167				
MDGA2	161357	broad.mit.edu	37	14	47342656	47342656	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:47342656T>G	uc001wwj.3	-	14	2721	c.2525A>C	c.(2524-2526)CAC>CCC	p.H842P	MDGA2_uc001wwh.3_Missense_Mutation_p.H44P|MDGA2_uc001wwi.3_Missense_Mutation_p.H613P|MDGA2_uc010ani.2_Missense_Mutation_p.H402P	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	842	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCCATACATGTGATAAAAGAA	0.363		NaN											0	0	0	0.006214	0	8	59				
C15orf52	388115	broad.mit.edu	37	15	40627566	40627566	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:40627566G>A	uc001zlh.3	-	11	1414	c.1398C>T	c.(1396-1398)CAC>CAT	p.H466H	C15orf52_uc010ucn.1_Silent_p.H256H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	466										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCAGCCTGGTGATTGCTCC	0.657		NaN											0	0	0	0.000602	0	5	17				
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:49423006G>A	uc001zxf.2	-	10	1034	c.955C>T	c.(955-957)CAG>TAG	p.Q319*	COPS2_uc001zxh.2_Nonsense_Mutation_p.Q326*|COPS2_uc010ufa.1_Nonsense_Mutation_p.Q255*	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	319	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303		NaN											0	0	0	0.000602	0	5	24				
GLDN	342035	broad.mit.edu	37	15	51675642	51675642	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:51675642G>T	uc002aba.2	+	3	594	c.425G>T	c.(424-426)GGA>GTA	p.G142V	GLDN_uc010bez.1_Missense_Mutation_p.D125Y|GLDN_uc002abb.2_Missense_Mutation_p.G18V	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	142	Extracellular (Potential).|Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGACCTTCTGGACCACCAGGT	0.502		NaN									OREG0023124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.39187e-15	0.008871	2.73737e-15	17	130				
CALML4	91860	broad.mit.edu	37	15	68492003	68492003	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:68492003G>T	uc002arb.2	-	3	914	c.180C>A	c.(178-180)TTC>TTA	p.F60L	CALML4_uc002arc.2_Intron|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_Intron|CALML4_uc010bhz.2_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	calmodulin-like 4 isoform 1	60	EF-hand 1.			F -> S (in Ref. 1; AAG48255).			calcium ion binding				0						CATACAGGGAGAAGCATTCCT	0.627		NaN											1	0	2.7689e-08	0.001984	3.06663e-08	4	95				
HCN4	10021	broad.mit.edu	37	15	73616166	73616166	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:73616166C>A	uc002avp.2	-	8	3262	c.2268G>T	c.(2266-2268)GCG>GCT	p.A756A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	756	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGACGCGGTGCGCGCAGTGGG	0.632		NaN											1	0	3.86212e-05	0.008291	4.01816e-05	9	57				
MKL2	57496	broad.mit.edu	37	16	14312706	14312706	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:14312706C>G	uc010uza.1	+	8	699	c.544C>G	c.(544-546)CAG>GAG	p.Q182E	MKL2_uc002dcg.2_Missense_Mutation_p.Q182E|MKL2_uc002dch.2_Missense_Mutation_p.Q171E|MKL2_uc010uzb.1_Missense_Mutation_p.Q131E	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	171					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TCCCCACACTCAGGGCGATTT	0.502		NaN											0	0	0	0.004482	0	7	50				
NSMCE1	197370	broad.mit.edu	37	16	27268804	27268804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:27268804C>T	uc002doi.1	-	2	186	c.88G>A	c.(88-90)GAA>AAA	p.E30K	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	30					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						ACGTCCCATTCCTCTAGCACG	0.582		NaN											0	0	0	0.012213	0	29	63				
CBFA2T3	863	broad.mit.edu	37	16	88952449	88952449	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:88952449G>A	uc002fmm.1	-	6	999	c.813C>T	c.(811-813)GAC>GAT	p.D271D	CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	271	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657		NaN	T	RUNX1	AML								0	0	0	0.004672	0	2	3				
ASGR1	432	broad.mit.edu	37	17	7077348	7077348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7077348C>T	uc002ges.3	-	8	1043	c.633G>A	c.(631-633)TGG>TGA	p.W211*	ASGR1_uc010clx.1_Nonsense_Mutation_p.W110*	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	211	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						GGAGGCCCATCCAGGTGTTCA	0.647		NaN											0	0	0	0.00245	0	12	67				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.010818	0	22	64		Valid		
ALOXE3	59344	broad.mit.edu	37	17	8012598	8012598	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:8012598A>C	uc010cnr.2	-	12	1826	c.1456T>G	c.(1456-1458)TAC>GAC	p.Y486D	ALOXE3_uc002gka.2_Missense_Mutation_p.Y642D|ALOXE3_uc010vuo.1_Missense_Mutation_p.Y618D	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	486	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						AAATTGGTGTAGGTGAAGTGG	0.657		NaN											0	0	0	0.004672	0	3	42				
AMAC1	146861	broad.mit.edu	37	17	33521026	33521026	+	Nonsense_Mutation	SNP	G	G	A	rs139972846		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:33521026G>A	uc002hjd.2	-	1	387	c.301C>T	c.(301-303)CGA>TGA	p.R101*		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	101	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCCGGCTTCGGATGTCAGGA	0.607		NaN											0	0	0	0.011902	0	43	133				
GGNBP2	79893	broad.mit.edu	37	17	34942489	34942489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:34942489C>G	uc002hnb.2	+	12	1751	c.1502C>G	c.(1501-1503)TCT>TGT	p.S501C	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S330C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	501					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTGATGACTCTTGTGTTCAT	0.368		NaN											0	0	0	0.008871	0	17	75				
GJC1	10052	broad.mit.edu	37	17	42882050	42882050	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:42882050T>G	uc002ihj.2	-	2	1647	c.1136A>C	c.(1135-1137)AAC>ACC	p.N379T	GJC1_uc002ihk.2_Missense_Mutation_p.N379T|GJC1_uc002ihl.2_Missense_Mutation_p.N379T|GJC1_uc010czx.2_Missense_Mutation_p.N379T|GJC1_uc010czy.1_Missense_Mutation_p.N240T	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	379	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				AGTGCTTTTGTTGGACCCAGC	0.517		NaN											0	0	0	0.007413	0	15	199				
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:52981124C>A	uc002iud.2	+	2	289	c.114C>A	c.(112-114)ATC>ATA	p.I38I	TOM1L1_uc002iub.2_Silent_p.I3I|TOM1L1_uc002iuc.2_Silent_p.I38I|TOM1L1_uc010dca.1_Silent_p.I38I|TOM1L1_uc010wnb.1_Silent_p.I38I|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Translation_Start_Site	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	38	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1						TCATGCACATCTGTGACATAA	0.428		NaN											1	0	3.09899e-07	0.004482	3.29067e-07	6	78				
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:58952079C>T	uc002iyv.3	+	9	750	c.641C>T	c.(640-642)ACG>ATG	p.T214M	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	214						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328		NaN											0	0	0	0.000602	0	4	36				
BPTF	2186	broad.mit.edu	37	17	65871019	65871019	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:65871019A>G	uc002jgf.2	+	4	1808	c.1747A>G	c.(1747-1749)ACT>GCT	p.T583A	BPTF_uc002jge.2_Missense_Mutation_p.T583A|BPTF_uc010wqm.1_Missense_Mutation_p.T583A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	696	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGAATGAGACTGAGAATGA	0.363		NaN											0	0	0	0.001984	0	6	45				
C17orf28	283987	broad.mit.edu	37	17	72954437	72954437	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:72954437G>A	uc002jmj.3	-	11	1526	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	C17orf28_uc010wrs.1_Silent_p.A258A	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	459						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					TGAGCAGGTCGGCGTGGGTCC	0.662		NaN									OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	10	22				
SMAD4	4089	broad.mit.edu	37	18	48575203	48575203	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr18:48575203T>A	uc010xdp.1	+	3	935	c.397T>A	c.(397-399)TAC>AAC	p.Y133N	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	133	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(4)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCCATATCACTACGAACGAGT	0.348		NaN							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.004007	0	13	35				
DPP9	91039	broad.mit.edu	37	19	4704288	4704288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:4704288C>T	uc002mba.2	-	6	713	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	DPP9_uc002mbb.2_Missense_Mutation_p.R152Q|DPP9_uc002mbc.2_Missense_Mutation_p.R152Q	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	123					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCTCCCGAGAGTAGAC	0.642		NaN											0	0	0	0.008871	0	14	78				
MUC16	94025	broad.mit.edu	37	19	8999557	8999557	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:8999557T>G	uc002mkp.2	-	56	40822	c.40618A>C	c.(40618-40620)AAG>CAG	p.K13540Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13542	SEA 10.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCCCATCCTTCTTGGGCCTG	0.597		NaN											0	0	0	0.001984	0	7	41				
DHX34	9704	broad.mit.edu	37	19	47884572	47884572	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:47884572G>A	uc010xyn.1	+	16	3630	c.3289G>A	c.(3289-3291)GGG>AGG	p.G1097R	DHX34_uc010xyo.1_Missense_Mutation_p.G226R	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1097						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCACAGGATGGGCCCCCAGG	0.672		NaN											0	0	0	0.010729	0	10	36				
SYT5	6861	broad.mit.edu	37	19	55690386	55690386	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:55690386C>A	uc002qjm.1	-	1	1084	c.24G>T	c.(22-24)CCG>CCT	p.P8P	SYT5_uc002qjp.2_Missense_Mutation_p.R63L|SYT5_uc002qjn.1_Silent_p.P8P|SYT5_uc002qjo.1_Silent_p.P8P	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	8	Vesicular (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGGAGGCCCCGGGGTTGGGG	0.667		NaN											1	0	3.09899e-07	0.004482	3.29067e-07	5	14				
NLRP4	147945	broad.mit.edu	37	19	56370501	56370501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:56370501T>C	uc002qmd.3	+	3	2164	c.1742T>C	c.(1741-1743)ATT>ACT	p.I581T	NLRP4_uc002qmf.2_Missense_Mutation_p.I506T|NLRP4_uc010etf.2_Missense_Mutation_p.I412T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	581							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTCATATTATTGACAACGTG	0.418		NaN											0	0	0	0.000602	0	5	37				
CAD	790	broad.mit.edu	37	2	27444089	27444089	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:27444089T>G	uc002rji.2	+	3	388	c.226T>G	c.(226-228)TTT>GTT	p.F76V	CAD_uc010eyw.2_Missense_Mutation_p.F76V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	76	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTACAGTGGTTTGAATCCTC	0.532		NaN											0	0	0	0.001855	0	9	56				
KCNG3	170850	broad.mit.edu	37	2	42720041	42720041	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:42720041C>A	uc002rsn.2	-	1	1197	c.601G>T	c.(601-603)GCC>TCC	p.A201S	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.A201S	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	201						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						CGGTTGTCGGCGGCTGCGTTG	0.627		NaN											1	0	3.27435e-08	0.00245	3.55009e-08	11	26				
ATP6V1B1	525	broad.mit.edu	37	2	71190385	71190385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:71190385G>A	uc002shj.2	+	10	1090	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.V335M|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.V293M	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	335					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GGCGGGCCGCGTGGAGGGTCG	0.627		NaN											0	0	0	0.00308	0	6	87				
REG1A	5967	broad.mit.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:79349974G>A	uc002snz.2	+	5	432	c.329G>A	c.(328-330)CGC>CAC	p.R110H	REG1A_uc010ysd.1_Missense_Mutation_p.R110H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	110	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						TAGAACCGCCGCTGGCACTGG	0.552		NaN											0	0	0	0.00499	0	14	139				
SLC9A4	389015	broad.mit.edu	37	2	103148843	103148843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:103148843G>A	uc002tbz.3	+	12	2550	c.2093G>A	c.(2092-2094)CGG>CAG	p.R698Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	698	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GCATGCTCTCGGATAGGGTCA	0.448		NaN											0	0	0	0.003163	0	14	79				
CCDC108	255101	broad.mit.edu	37	2	219892615	219892615	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:219892615G>A	uc002vjl.1	-	13	2052	c.1968C>T	c.(1966-1968)GTC>GTT	p.V656V	CCDC108_uc010fwa.1_Silent_p.V99V|CCDC108_uc010zkp.1_Silent_p.V645V|CCDC108_uc010zkq.1_Silent_p.V591V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	656						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTACCTCGACAGGCTCTA	0.617		NaN											0	0	0	0.006214	0	10	38				
RNF160	26046	broad.mit.edu	37	21	30316094	30316094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:30316094T>C	uc002ymr.2	-	23	4266	c.4253A>G	c.(4252-4254)AAA>AGA	p.K1418R		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1372							ligase activity|zinc ion binding				0						TAAGTTTGTTTTTTGGTCAGC	0.388		NaN											0	0	0	0.005443	0	21	127				
CHAF1B	8208	broad.mit.edu	37	21	37781087	37781087	+	Silent	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:37781087A>C	uc002yvj.2	+	9	924	c.786A>C	c.(784-786)GTA>GTC	p.V262V		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	262	WD 5.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						GTGAAAATGTAATGAATACCA	0.353		NaN											0	0	0	0.004482	0	6	64				
C21orf56	84221	broad.mit.edu	37	21	47588241	47588241	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:47588241C>T	uc011afu.1	-	3	1587	c.525G>A	c.(523-525)AGG>AGA	p.R175R	C21orf56_uc002zii.2_Silent_p.R21R	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	175							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		AGTAGCTCCTCCTGGTCCTGT	0.662		NaN											0	0	0	0.001168	0	5	48				
SEZ6L	23544	broad.mit.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:26743810G>A	uc003acb.2	+	11	2494	c.2338G>A	c.(2338-2340)GTG>ATG	p.V780M	SEZ6L_uc003acc.2_Missense_Mutation_p.V780M|SEZ6L_uc011akc.1_Missense_Mutation_p.V780M|SEZ6L_uc003acd.2_Missense_Mutation_p.V780M|SEZ6L_uc011akd.1_Missense_Mutation_p.V780M|SEZ6L_uc003ace.2_Missense_Mutation_p.V780M|SEZ6L_uc003acf.1_Missense_Mutation_p.V553M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V553M|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CTATGACATCGTGGGGAGTGA	0.552		NaN											0	0	0	0.01441	0	43	74				
CELSR1	9620	broad.mit.edu	37	22	46931440	46931440	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:46931440G>C	uc003bhw.1	-	1	1628	c.1628C>G	c.(1627-1629)CCG>CGG	p.P543R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	543	Extracellular (Potential).|Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGATGAGCGGGGGCCGGCC	0.582		NaN											0	0	0	0.00245	0	13	82				
HDAC10	83933	broad.mit.edu	37	22	50688081	50688081	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:50688081G>C	uc003bkg.2	-	6	919	c.546C>G	c.(544-546)CTC>CTG	p.L182L	HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Silent_p.L182L|HDAC10_uc003bkh.2_Missense_Mutation_p.S11C|HDAC10_uc003bki.2_Silent_p.L182L|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'Flank	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	182	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCCTCAAAGAGATACTGGA	0.622		NaN											0	0	0	0.001984	0	5	59				
CCDC13	152206	broad.mit.edu	37	3	42777325	42777325	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:42777325C>T	uc003cly.3	-	10	1329	c.1245G>A	c.(1243-1245)CTG>CTA	p.L415L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	415	Potential.									ovary(1)	1						GTTGCTGGTCCAGGTGGTGCT	0.632		NaN											0	0	0	0.013537	0	12	54				
MYNN	55892	broad.mit.edu	37	3	169502469	169502469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:169502469A>T	uc003fft.2	+	7	1972	c.1543A>T	c.(1543-1545)AAG>TAG	p.K515*	MYNN_uc011bpm.1_Nonsense_Mutation_p.K401*|MYNN_uc003ffu.2_Nonsense_Mutation_p.K515*|MYNN_uc003ffv.2_Nonsense_Mutation_p.K242*|MYNN_uc010hwo.2_Intron|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	515	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TAAAAATTTAAAGAAGCACAA	0.234		NaN											0	0	0	0.009096	0	3	20				
PIK3CA	5290	broad.mit.edu	37	3	178919316	178919316	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:178919316G>C	uc003fjk.2	+	4	958	c.801G>C	c.(799-801)CTG>CTC	p.L267L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	267	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATATCCTCTGAGTCAGTATA	0.264		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.004672	0	3	28				
TIGD2	166815	broad.mit.edu	37	4	90034354	90034354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:90034354G>C	uc003hsk.2	+	1	387	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	77	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATCAACATACGAGGAGCTTGA	0.363		NaN											0	0	0	0.010729	0	10	60				
DNAH5	1767	broad.mit.edu	37	5	13753654	13753654	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:13753654A>C	uc003jfd.2	-	63	10602	c.10560T>G	c.(10558-10560)GAT>GAG	p.D3520E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCAACAGTACATCCCCTAAAA	0.343		NaN							Kartagener_syndrome				0	0	0	0.004672	0	3	33				
CDH10	1008	broad.mit.edu	37	5	24492938	24492938	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:24492938G>C	uc003jgr.1	-	10	1944	c.1612C>G	c.(1612-1614)CAG>GAG	p.Q538E	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	538	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTATCCTGTACTGTGAAG	0.348		NaN								HNSCC(23;0.051)			0	0	0	0.001984	0	5	114				
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:31323023G>C	uc003jhe.1	+	12	2307	c.1981G>C	c.(1981-1983)GAC>CAC	p.D661H		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	661	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CAGTTACAACGACGAAGGTGG	0.488		NaN											0	0	0	0.010729	0	11	48				
NR2F1	7025	broad.mit.edu	37	5	92923892	92923892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:92923892A>G	uc003kkj.2	+	2	2420	c.733A>G	c.(733-735)ATC>GTC	p.I245V		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	245					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGATCTGCAGATCACCGACCA	0.647		NaN											0	0	0	0.004656	0	19	85				
IL17B	27190	broad.mit.edu	37	5	148753933	148753933	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148753933C>G	uc003lqo.2	-	3	592	c.542G>C	c.(541-543)TGA>TCA	p.*181S		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	181					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGATTCAGAAGATGCA	0.587		NaN											0	0	0	0.000602	0	4	61				
CSNK1A1	1452	broad.mit.edu	37	5	148904715	148904715	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148904715C>T	uc003lqx.1	-	3	730	c.250G>A	c.(250-252)GAC>AAC	p.D84N	CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.D84N|CSNK1A1_uc003lqy.1_Missense_Mutation_p.D84N|CSNK1A1_uc010jha.1_Missense_Mutation_p.D84N	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	84	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACATTGTAGTCTTTTTCCTGA	0.358		NaN											0	0	0	0.001168	0	5	14				
SERPINB9	5272	broad.mit.edu	37	6	2896393	2896393	+	Missense_Mutation	SNP	T	T	C	rs146337993		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:2896393T>C	uc003mug.2	-	3	321	c.200A>G	c.(199-201)CAT>CGT	p.H67R	uc003mue.2_Intron	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	67					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAGCCCGATGAATGTCTTC	0.463		NaN											0	0	0	0.00278	0	18	75				
HIST1H1T	3010	broad.mit.edu	37	6	26107884	26107884	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:26107884A>G	uc003ngj.2	-	1	481	c.438T>C	c.(436-438)ACT>ACC	p.T146T		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	146					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						TGGTTTTAGCAGTCTTTGGTG	0.463		NaN											0	0	0	0.001168	0	6	52				
KIFC1	3833	broad.mit.edu	37	6	33371659	33371659	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:33371659A>G	uc003oef.3	+	6	959	c.509A>G	c.(508-510)CAG>CGG	p.Q170R	KIFC1_uc011drf.1_Missense_Mutation_p.Q162R	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	170	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CTTCAGGACCAGCTCAGAGAT	0.557		NaN											0	0	0	0.00308	0	6	96				
HECW1	23072	broad.mit.edu	37	7	43532701	43532701	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:43532701T>C	uc003tid.1	+	19	3964	c.3359T>C	c.(3358-3360)GTG>GCG	p.V1120A	HECW1_uc011kbi.1_Missense_Mutation_p.V1086A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GACAAGATTGTGGCATTTCTT	0.463		NaN											0	0	0	0.004007	0	12	49				
TAS2R40	259286	broad.mit.edu	37	7	142919393	142919393	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:142919393G>T	uc011ksx.1	+	1	222	c.222G>T	c.(220-222)ATG>ATT	p.M74I		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	74	Helical; Name=2; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					AGATTTGGATGATGCTGGAGA	0.453		NaN											1	0	2.7689e-08	0.001984	3.06663e-08	7	87				
C8orf86	389649	broad.mit.edu	37	8	38373959	38373959	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38373959C>T	uc003xlx.1	-	2	412	c.387G>A	c.(385-387)GTG>GTA	p.V129V		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	129											0						AATGAGAGATCACTGTGGGCT	0.418		NaN											0	0	0	0.01441	0	35	113				
C8orf86	389649	broad.mit.edu	37	8	38374031	38374031	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38374031C>G	uc003xlx.1	-	2	341	c.316_splice	c.e2-1	p.A106_splice		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649												0						TCTCATAAGCCTAGAGACAGG	0.423		NaN											0	0	0	0.013537	0	10	68				
RB1CC1	9821	broad.mit.edu	37	8	53573712	53573712	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:53573712G>A	uc003xre.3	-	10	2046	c.1488C>T	c.(1486-1488)TAC>TAT	p.Y496Y	RB1CC1_uc003xrf.3_Silent_p.Y496Y	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	496					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGCTAAGCAGTACATCTGAG	0.363		NaN											0	0	0	0.003163	0	10	47				
IL33	90865	broad.mit.edu	37	9	6251156	6251156	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:6251156A>T	uc003zjt.2	+	4	291	c.234A>T	c.(232-234)AGA>AGT	p.R78S	IL33_uc011lmg.1_Missense_Mutation_p.R78S|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R78S	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	78					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGCACAAAAGACATCTGGTAC	0.478		NaN											0	0	0	0.010504	0	18	55				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:35906559A>C	uc003zyr.1	+	1	371	c.275A>C	c.(274-276)CAC>CCC	p.H92P	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane					0						caccaccaccacccccgccac	0.393		NaN											0	0	0	0.003163	0	5	13				
PCSK5	5125	broad.mit.edu	37	9	78772065	78772065	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:78772065G>A	uc004ajz.2	+	11	1955	c.1417G>A	c.(1417-1419)GAC>AAC	p.D473N	PCSK5_uc004ajy.2_Missense_Mutation_p.D473N|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	473	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GGAGAGCACAGACCGACAAAT	0.522		NaN											0	0	0	0.008291	0	11	84				
OR13C8	138802	broad.mit.edu	37	9	107331818	107331818	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:107331818G>T	uc011lvo.1	+	1	370	c.370G>T	c.(370-372)GTG>TTG	p.V124L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGACCGCTATGTGGCCATCTG	0.537		NaN											1	0	4.14922e-12	0.004007	4.69637e-12	13	47				
TTF1	7270	broad.mit.edu	37	9	135277170	135277170	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:135277170C>A	uc004cbl.2	-	2	1091	c.1039G>T	c.(1039-1041)GTG>TTG	p.V347L	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	347					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCATGGCCACTGCCTCAAAT	0.483		NaN											1	0	2.56e-06	0.009096	2.69061e-06	4	107				
CDR1	1038	broad.mit.edu	37	X	139866364	139866364	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chrX:139866364A>G	uc004fbg.1	-	1	360	c.168T>C	c.(166-168)GAT>GAC	p.D56D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	56	23 X 6 AA approximate repeats.|9.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTTCCAGCAAATCCACGTCTT	0.438		NaN											0	0	0	0.004672	0	3	46				
RERE	473	broad.mit.edu	37	1	8419925	8419925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:8419925C>T	uc001ape.2	-	20	4327	c.3517G>A	c.(3517-3519)GAG>AAG	p.E1173K	RERE_uc001apf.2_Missense_Mutation_p.E1173K|RERE_uc001apd.2_Missense_Mutation_p.E619K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1173	Potential.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.498		NaN											0	0	0	0.02938	0	4	58				
DEM1	64789	broad.mit.edu	37	1	40980423	40980423	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:40980423A>G	uc001cfp.2	+	3	412	c.207A>G	c.(205-207)ATA>ATG	p.I69M	DEM1_uc001cfq.2_Missense_Mutation_p.I69M|DEM1_uc001cfr.2_Missense_Mutation_p.I69M|DEM1_uc001cfs.2_Missense_Mutation_p.I69M	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	69							DNA binding|exonuclease activity				0						GATTGGATATATTATCACCCA	0.423		NaN											0	0	0	0.004672	0	3	100				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527		NaN											0	0	0	0.038147	0	7	38				
PI4KB	5298	broad.mit.edu	37	1	151288629	151288629	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:151288629G>A	uc001ext.2	-	2	744	c.329C>T	c.(328-330)TCA>TTA	p.S110L	PI4KB_uc001exr.2_Missense_Mutation_p.S122L|PI4KB_uc001exs.2_Missense_Mutation_p.S110L|PI4KB_uc001exu.2_Missense_Mutation_p.S110L|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S122L	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	110					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGTGCCTGAGGCCACAGC	0.542		NaN											0	0	0	0.058154	0	8	104				
FCGR2A	2212	broad.mit.edu	37	1	161487799	161487799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161487799G>C	uc001gan.2	+	7	868	c.815G>C	c.(814-816)AGA>ACA	p.R272T	FCGR2A_uc001gam.2_Missense_Mutation_p.R271T|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	272	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	atcagaaagagacaacttgaa	0.209		NaN											0	0	0	0.021553	0	6	64				
ATF6	22926	broad.mit.edu	37	1	161821558	161821558	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161821558G>A	uc001gbr.2	+	11	1433	c.1366G>A	c.(1366-1368)GAA>AAA	p.E456K	ATF6_uc001gbq.1_Missense_Mutation_p.E456K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	456	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGTGCTAACTGAAGAACCATT	0.383		NaN											0	0	0	0.047766	0	7	208				
PAPPA2	60676	broad.mit.edu	37	1	176679172	176679172	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:176679172G>C	uc001gkz.2	+	11	4675	c.3511G>C	c.(3511-3513)GAG>CAG	p.E1171Q	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1171					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGAACCTTTTGAGAGAAAAAC	0.428		NaN											0	0	0	0.069234	0	8	128				
SOAT1	6646	broad.mit.edu	37	1	179308589	179308589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:179308589G>A	uc001gml.2	+	6	469	c.406G>A	c.(406-408)GAC>AAC	p.D136N	SOAT1_uc010pni.1_Missense_Mutation_p.D71N|SOAT1_uc001gmm.2_Missense_Mutation_p.D78N|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.D71N	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	136					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTGAAGTGGACCACATCAG	0.313		NaN											0	0	0	0.038147	0	5	125				
HEATR1	55127	broad.mit.edu	37	1	236766632	236766632	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:236766632C>G	uc001hyd.1	-	3	312	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	HEATR1_uc001hye.1_Missense_Mutation_p.E63Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	63					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAAACTGCTCAAAGGAAGGA	0.393		NaN											0	0	0	0.004672	0	3	95				
KIAA1217	56243	broad.mit.edu	37	10	24762442	24762442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:24762442G>A	uc001iru.3	+	6	1535	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N	KIAA1217_uc001irs.2_Missense_Mutation_p.D298N|KIAA1217_uc001irt.3_Missense_Mutation_p.D378N|KIAA1217_uc010qcy.1_Missense_Mutation_p.D378N|KIAA1217_uc010qcz.1_Missense_Mutation_p.D378N|KIAA1217_uc001irv.1_Missense_Mutation_p.D228N|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.D96N|KIAA1217_uc001irz.2_Missense_Mutation_p.D96N|KIAA1217_uc001irx.2_Missense_Mutation_p.D96N|KIAA1217_uc001iry.2_Missense_Mutation_p.D96N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	378					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GCCTGATGAAGACATGAGTGG	0.493		NaN											0	0	0	0.038147	0	7	161				
ANO9	338440	broad.mit.edu	37	11	431763	431763	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:431763T>C	uc001lpi.2	-	7	555	c.470A>G	c.(469-471)GAG>GGG	p.E157G	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.E13G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	157	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAGGCGTCCCTCCCCCTGGCT	0.647		NaN											0	0	0	0.004672	0	3	57				
GANAB	23193	broad.mit.edu	37	11	62407194	62407194	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:62407194C>G	uc001nub.2	-	2	81	c.48G>C	c.(46-48)GCG>GCC	p.A16A	GANAB_uc001nua.2_Silent_p.A16A|GANAB_uc001nuc.2_5'UTR|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	16					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GTACCAAAGACGCCCAAGACC	0.473		NaN											0	0	0	0.004672	0	3	89				
PCF11	51585	broad.mit.edu	37	11	82877510	82877510	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:82877510C>G	uc001ozx.3	+	5	1916	c.1571C>G	c.(1570-1572)TCT>TGT	p.S524C	PCF11_uc010rsu.1_Missense_Mutation_p.S524C	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	524					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						ATTCGCCAATCTGGAGCTAAG	0.443		NaN											0	0	0	0.02938	0	6	140				
SIK2	23235	broad.mit.edu	37	11	111558730	111558730	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:111558730C>G	uc001plt.2	+	4	440	c.322C>G	c.(322-324)CTT>GTT	p.L108V		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	108	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TACAGACTATCTTGCTAATCA	0.368		NaN											0	0	0	0.021553	0	4	91				
KDM5A	5927	broad.mit.edu	37	12	417057	417057	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:417057T>C	uc001qif.1	-	23	3856	c.3493A>G	c.(3493-3495)ATT>GTT	p.I1165V	KDM5A_uc001qie.1_Missense_Mutation_p.I1165V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1165	PHD-type 2.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTGCGGCAAATGCAAAATTTT	0.453		NaN	T 	NUP98	AML								0	0	0	0.038147	0	7	163				
DDX23	9416	broad.mit.edu	37	12	49230553	49230553	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:49230553C>G	uc001rsm.2	-	10	1126	c.1035G>C	c.(1033-1035)AAG>AAC	p.K345N		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	345						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TGGCTTCCTTCTTACGAAGTT	0.532		NaN											0	0	0	0.069234	0	10	236				
UHRF1BP1L	23074	broad.mit.edu	37	12	100476855	100476855	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:100476855G>C	uc001tgq.2	-	11	1575	c.1346C>G	c.(1345-1347)TCA>TGA	p.S449*	UHRF1BP1L_uc001tgr.2_Nonsense_Mutation_p.S449*|UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.S99*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	449										ovary(2)	2						CTTAGCTTTTGATTGTTGAGA	0.338		NaN											0	0	0	0.014758	0	4	81				
SACS	26278	broad.mit.edu	37	13	23905175	23905175	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:23905175G>C	uc001uon.2	-	10	13429	c.12840C>G	c.(12838-12840)TTC>TTG	p.F4280L	SACS_uc001uoo.2_Missense_Mutation_p.F4133L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4280					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTACCAGAGAAAAGAGGAG	0.478		NaN											0	0	0	0.014758	0	4	93				
CDK8	1024	broad.mit.edu	37	13	26911762	26911762	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:26911762G>A	uc001uqr.1	+	2	213	c.187G>A	c.(187-189)GCA>ACA	p.A63T	CDK8_uc001uqs.1_Missense_Mutation_p.A63T|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	63	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTCTATGTCGGCATGTAGAGA	0.284		NaN											0	0	0	0.02938	0	4	138				
PAN3	255967	broad.mit.edu	37	13	28794450	28794450	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:28794450C>T	uc001urz.2	+	5	505	c.497C>T	c.(496-498)TCT>TTT	p.S166F	PAN3_uc010tdo.1_Missense_Mutation_p.S312F|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.S112F	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	312	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCAAATATGTCTGCCTTCTCT	0.438		NaN											0	0	0	0.038147	0	8	308				
NFKBIA	4792	broad.mit.edu	37	14	35871254	35871254	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:35871254C>T	uc001wtf.3	-	6	1029	c.919G>A	c.(919-921)GAC>AAC	p.D307N	NFKBIA_uc001wte.3_Missense_Mutation_p.D217N|NFKBIA_uc001wtg.3_Missense_Mutation_p.D264N|NFKBIA_uc010amo.2_RNA	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	307					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AACACACAGTCATCATAGGGC	0.453		NaN											0	0	0	0.028581	0	13	126				
LRFN5	145581	broad.mit.edu	37	14	42356424	42356424	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:42356424G>A	uc001wvm.2	+	3	1794	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	LRFN5_uc010ana.2_Missense_Mutation_p.R199Q	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	199	Extracellular (Potential).|LRR 7.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATGACTCGGTTAGATGTG	0.438		NaN								HNSCC(30;0.082)			0	0	0	0.014758	0	4	31				
FAM161B	145483	broad.mit.edu	37	14	74401048	74401048	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:74401048C>G	uc001xpd.1	-	9	1961	c.1855G>C	c.(1855-1857)GAA>CAA	p.E619Q		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						AGAGATCCTTCTAAACCCTGC	0.373		NaN											0	0	0	0.038147	0	6	100				
ATP10A	57194	broad.mit.edu	37	15	25953415	25953415	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:25953415G>C	uc010ayu.2	-	11	2483	c.2377C>G	c.(2377-2379)CGG>GGG	p.R793G		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	793	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R793W(1)		pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTTGCTCCGAATCTTTTTT	0.537		NaN											0	0	0	0.014758	0	4	121				
NDUFAF1	51103	broad.mit.edu	37	15	41689076	41689076	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:41689076C>A	uc001znx.2	-	2	564	c.182G>T	c.(181-183)GGA>GTA	p.G61V	NDUFAF1_uc010bcf.2_RNA	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	61					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTGGTGATCTCCTTGCAAATC	0.423		NaN											1	0	0.000442599	0.058154	0.000484752	7	205				
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:66853375C>A	uc002aqc.2	-	6	806	c.674G>T	c.(673-675)GGC>GTC	p.G225V	LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	225	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						CTTGTACAGGCCGGTGCCGCG	0.602		NaN											1	0	0.00198382	0.02938	0.00212222	6	71				
NOX5	79400	broad.mit.edu	37	15	69328242	69328242	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:69328242C>G	uc002ars.1	+	7	1174	c.1154C>G	c.(1153-1155)TCC>TGC	p.S385C	NOX5_uc002arp.1_Missense_Mutation_p.S367C|NOX5_uc002arq.1_Missense_Mutation_p.S339C|NOX5_uc010bid.1_Missense_Mutation_p.S350C|NOX5_uc002arr.1_Missense_Mutation_p.S357C|NOX5_uc010bie.1_Missense_Mutation_p.S185C|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	385	Ferric oxidoreductase.|Cytoplasmic (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						TTCATCTGCTCCAGTTCCTGC	0.597		NaN											0	0	0	0.02938	0	6	185				
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:98995216C>T	uc002buk.1	-	5	458	c.208G>A	c.(208-210)GGT>AGT	p.G70S		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	70											0						TAGCATGCACCGGTGCCATCA	0.592		NaN											0	0	0	0.004672	0	3	63				
NEURL4	84461	broad.mit.edu	37	17	7230206	7230206	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7230206C>A	uc002gga.1	-	4	923	c.916G>T	c.(916-918)GCT>TCT	p.A306S	NEURL4_uc002ggb.1_Missense_Mutation_p.A306S|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	306							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAGGTGGCAGCACCGCTAGAT	0.562		NaN											1	0	8.12818e-05	0.02938	9.00955e-05	5	91				
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7578419C>A	uc002gim.2	-	5	705	c.511G>T	c.(511-513)GAG>TAG	p.E171*	TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	171	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	5.9392e-07	0.021553	6.74576e-07	5	75		Valid		
C17orf48	56985	broad.mit.edu	37	17	10608569	10608569	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:10608569G>A	uc002gmt.2	+	2	401	c.326G>A	c.(325-327)GGA>GAA	p.G109E	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.G109E	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	109							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CATACATGGGGAAACCATGAA	0.358		NaN											0	0	0	0.02938	0	5	77				
ITGA2B	3674	broad.mit.edu	37	17	42458417	42458417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:42458417G>A	uc002igt.1	-	13	1255	c.1223C>T	c.(1222-1224)GCT>GTT	p.A408V	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	408	Extracellular (Potential).|FG-GAP 6.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTAGGGGGCAGCCACTGCAAT	0.577		NaN											0	0	0	0.014758	0	3	43				
TBX4	9496	broad.mit.edu	37	17	59560439	59560439	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:59560439G>A	uc002izi.2	+	8	1245	c.1200G>A	c.(1198-1200)GAG>GAA	p.E400E	TBX4_uc010ddo.2_Silent_p.E401E|TBX4_uc010woy.1_Silent_p.E401E	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	400					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGGGCCCGAGATTGCCGGGG	0.607		NaN											0	0	0	0.047766	0	8	90				
CAPN12	147968	broad.mit.edu	37	19	39226178	39226178	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:39226178G>T	uc002ojd.1	-	13	1899	c.1590C>A	c.(1588-1590)ATC>ATA	p.I530I	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'UTR	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	530	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCACGTCGTCGATCTCCCTGC	0.632		NaN											1	0	1.23904e-05	0.014758	1.39014e-05	5	34				
TPRX1	284355	broad.mit.edu	37	19	48305091	48305091	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:48305091C>G	uc002php.1	-	2	1248	c.1177G>C	c.(1177-1179)GAG>CAG	p.E393Q		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	393						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCACCCTCCTCTTGGGGCTGA	0.532		NaN											0	0	0	0.021553	0	6	173				
NEB	4703	broad.mit.edu	37	2	152543972	152543972	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:152543972C>G	uc010fnx.2	-	27	2789	c.2598G>C	c.(2596-2598)AAG>AAC	p.K866N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	866	Nebulin 20.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTGCAGCATCTTTGGATCGT	0.438		NaN											0	0	0	0.047766	0	8	178				
TTN	7273	broad.mit.edu	37	2	179474565	179474565	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:179474565C>T	uc010zfg.1	-	221	44105	c.43881G>A	c.(43879-43881)AAG>AAA	p.K14627K	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K8322K|TTN_uc010zfi.1_Silent_p.K8255K|TTN_uc010zfj.1_Silent_p.K8130K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15554							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTGCATCTCTTCCACCTTT	0.473		NaN											0	0	0	0.020292	0	12	564				
C20orf70	140683	broad.mit.edu	37	20	31757018	31757018	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr20:31757018G>C	uc002wyo.1	+	2	138	c.67G>C	c.(67-69)GAC>CAC	p.D23H		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	23						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						GTCTCTTCTTGACAATCTTGG	0.463		NaN											0	0	0	0.009096	0	4	186				
CECR2	27443	broad.mit.edu	37	22	17976598	17976598	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:17976598G>A	uc010gqw.1	+	2	385	c.259G>A	c.(259-261)GAT>AAT	p.D87N	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	129					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GGATGCAGACGATGTCTTCGA	0.512		NaN											0	0	0	0.014758	0	4	125				
EP300	2033	broad.mit.edu	37	22	41545867	41545867	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545867C>T	uc003azl.3	+	14	2877	c.2482C>T	c.(2482-2484)CAT>TAT	p.H828Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	828					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ACCAGCTCTTCATCAGAATTC	0.552		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.021553	0	4	58		Valid		
EP300	2033	broad.mit.edu	37	22	41545870	41545870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545870C>T	uc003azl.3	+	14	2880	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	829					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGCTCTTCATCAGAATTCACC	0.562		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.021553	0	4	59		Valid		
GRM2	2912	broad.mit.edu	37	3	51749893	51749893	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:51749893G>A	uc010hlv.2	+	4	2343	c.2104G>A	c.(2104-2106)GCA>ACA	p.A702T	GRM2_uc003dbo.3_Missense_Mutation_p.A84T|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	702	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGTGGAGGCACCGGGCAC	0.652		NaN											0	0	0	0.009096	0	3	44				
NAALADL2	254827	broad.mit.edu	37	3	175293969	175293969	+	Silent	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:175293969A>G	uc003fit.2	+	10	1881	c.1794A>G	c.(1792-1794)ACA>ACG	p.T598T	NAALADL2_uc003fiu.1_Silent_p.T591T|NAALADL2_uc010hwy.1_Silent_p.T372T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	598	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACATCAAAACATTAGAGGTGA	0.348		NaN											0	0	0	0.014758	0	5	175				
TP63	8626	broad.mit.edu	37	3	189455608	189455608	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:189455608G>A	uc003fry.2	+	2	231	c.142G>A	c.(142-144)GAA>AAA	p.E48K	TP63_uc003frx.2_Missense_Mutation_p.E48K|TP63_uc003frz.2_Missense_Mutation_p.E48K|TP63_uc010hzc.1_Missense_Mutation_p.E48K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	48	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGACAAATGAATTCCTCAG	0.378		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			0	0	0	0.009096	0	4	102				
MFI2	4241	broad.mit.edu	37	3	196730882	196730882	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:196730882G>A	uc003fxk.3	-	15	2140	c.2027C>T	c.(2026-2028)GCC>GTC	p.A676V	uc003fxi.2_5'Flank|uc003fxj.1_Intron	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	676	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCGGACGGTGGCATCCTTGAA	0.587		NaN											0	0	0	0.049695	0	16	596				
OCIAD2	132299	broad.mit.edu	37	4	48894829	48894829	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:48894829C>G	uc003gyt.2	-	6	546	c.343G>C	c.(343-345)GAT>CAT	p.D115H	OCIAD2_uc003gyu.2_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	115	OCIA.					endosome					0						CGGAGCTGATCTTCAAAAAAA	0.393		NaN											0	0	0	0.047766	0	7	330				
SPRY1	10252	broad.mit.edu	37	4	124322883	124322883	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:124322883C>A	uc003ifa.2	+	2	325	c.137C>A	c.(136-138)GCC>GAC	p.A46D	SPRY1_uc003ifb.2_Missense_Mutation_p.A46D	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	46					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						CAGATCAAGGCCATAAGAGGC	0.463		NaN											1	0	0.000602214	0.014758	0.000651809	5	182				
FAT4	79633	broad.mit.edu	37	4	126412493	126412493	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:126412493C>G	uc003ifj.3	+	17	14516	c.14516C>G	c.(14515-14517)TCT>TGT	p.S4839C	FAT4_uc011cgp.1_Missense_Mutation_p.S3080C|FAT4_uc003ifi.1_Missense_Mutation_p.S2316C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4839	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCAGAATCCTCTTCTGATAGT	0.468		NaN											0	0	0	0.009096	0	4	86				
DNAH5	1767	broad.mit.edu	37	5	13729630	13729630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13729630G>A	uc003jfd.2	-	69	11843	c.11801C>T	c.(11800-11802)CCA>CTA	p.P3934L	DNAH5_uc003jfc.2_Missense_Mutation_p.P102L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3934					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCATTTTGATGGTTTTGGAGG	0.358		NaN							Kartagener_syndrome				0	0	0	0.009096	0	4	117				
DNAH5	1767	broad.mit.edu	37	5	13844961	13844961	+	Silent	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13844961G>C	uc003jfd.2	-	32	5298	c.5256C>G	c.(5254-5256)GTC>GTG	p.V1752V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1752	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CGTGGAACTTGACAGATTTAA	0.468		NaN							Kartagener_syndrome				0	0	0	0.02938	0	6	237				
ADAMTS12	81792	broad.mit.edu	37	5	33588860	33588860	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:33588860C>T	uc003jia.1	-	18	2872	c.2709G>A	c.(2707-2709)GAG>GAA	p.E903E	ADAMTS12_uc010iuq.1_Silent_p.E818E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	903	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTCGCTTCTTCTCCCCGTGGG	0.607		NaN								HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.049695	0	16	84				
MSH3	4437	broad.mit.edu	37	5	79974807	79974807	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:79974807C>G	uc003kgz.2	+	8	1488	c.1235C>G	c.(1234-1236)TCA>TGA	p.S412*		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	412					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTTCTCGTTCAGAGCTAGAA	0.488		NaN						MMR					0	0	0	0.02938	0	6	224				
LNPEP	4012	broad.mit.edu	37	5	96341855	96341855	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:96341855C>G	uc003kmv.1	+	10	2378	c.1864C>G	c.(1864-1866)CAA>GAA	p.Q622E	LNPEP_uc003kmw.1_Missense_Mutation_p.Q608E	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	622	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACTGTTCAAAAGAAAGG	0.333		NaN											0	0	0	0.009096	0	3	69				
PCDHA1	56147	broad.mit.edu	37	5	140167577	140167577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140167577C>T	uc003lhb.2	+	1	1702	c.1702C>T	c.(1702-1704)CCT>TCT	p.P568S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P568S	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	568	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCTGGCGCCTCGAGTGGG	0.687		NaN											0	0	0	0.021553	0	6	107				
PCDHGA7	56108	broad.mit.edu	37	5	140762743	140762743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140762743G>A	uc003lka.1	+	1	277	c.277G>A	c.(277-279)GAA>AAA	p.E93K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E93K	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	93	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGACCGGGAAGAGATCTG	0.527		NaN											0	0	0	0.009096	0	4	93				
GNB2L1	10399	broad.mit.edu	37	5	180668594	180668594	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:180668594C>G	uc003mni.1	-	3	433	c.327G>C	c.(325-327)CTG>CTC	p.L109L	GNB2L1_uc003mnh.1_Silent_p.L68L|GNB2L1_uc003mnk.1_Silent_p.L31L|GNB2L1_uc003mnj.1_Silent_p.L63L|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.L109L|GNB2L1_uc010jls.2_Silent_p.L68L|GNB2L1_uc011dhl.1_Silent_p.L109L	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	109	WD 3.			Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGGCCACACTCAGCACATCCT	0.507		NaN											0	0	0	0.021553	0	5	98				
TNXB	7148	broad.mit.edu	37	6	32015700	32015700	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:32015700C>T	uc003nzl.2	-	30	10331	c.10129G>A	c.(10129-10131)GAG>AAG	p.E3377K	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3424	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AATTCGCCCTCAGGGACCGTC	0.637		NaN											0	0	0	0.009096	0	4	59				
FANCE	2178	broad.mit.edu	37	6	35426085	35426085	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:35426085G>T	uc003oko.1	+	5	1166	c.981G>T	c.(979-981)CTG>CTT	p.L327L	FANCE_uc010jvw.1_Intron	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	327	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						TGGACTTGCTGTGTGCCCAGC	0.602		NaN	N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	1.5842e-08	0.105934	1.84489e-08	13	186				
DNAH8	1769	broad.mit.edu	37	6	38834595	38834595	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:38834595C>G	uc003ooe.1	+	45	6585	c.5985C>G	c.(5983-5985)ATC>ATG	p.I1995M		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAAATGTTATCTTGGCTCAAA	0.303		NaN											0	0	0	0.02938	0	5	47				
PURB	5814	broad.mit.edu	37	7	44924329	44924329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:44924329C>T	uc003tme.2	-	1	632	c.619G>A	c.(619-621)GGC>AGC	p.G207S		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	207	Gly-rich.|By similarity.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						cccccggcgccgcctcccggg	0.502		NaN											0	0	0	0.004672	0	3	38				
FZD9	8326	broad.mit.edu	37	7	72849103	72849103	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:72849103G>C	uc003tyb.2	+	1	995	c.766G>C	c.(766-768)GAG>CAG	p.E256Q		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	256	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCTTGCTGGAGCCCCACCG	0.642		NaN											0	0	0	0.021553	0	5	188				
CYP3A4	1576	broad.mit.edu	37	7	99366067	99366067	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:99366067C>T	uc003urv.1	-	7	684	c.580G>A	c.(580-582)GAC>AAC	p.D194N	CYP3A4_uc003urw.1_Missense_Mutation_p.D194N|CYP3A4_uc011kiz.1_Missense_Mutation_p.D153N|CYP3A4_uc011kja.1_Missense_Mutation_p.D145N|CYP3A4_uc011kjb.1_Missense_Mutation_p.D44N	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	194					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGAGAGAGTCGATGTTCACT	0.403		NaN											0	0	0	0.014758	0	5	144				
C7orf58	79974	broad.mit.edu	37	7	120740099	120740099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:120740099C>T	uc003vjq.3	+	7	1316	c.869C>T	c.(868-870)TCG>TTG	p.S290L	C7orf58_uc003vjr.1_Missense_Mutation_p.S290L|C7orf58_uc003vjs.3_Missense_Mutation_p.S290L|C7orf58_uc003vjt.3_Missense_Mutation_p.S70L|C7orf58_uc010lkk.1_Missense_Mutation_p.S70L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	290						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TTCATTCATTCGACGGGCACA	0.428		NaN											0	0	0	0.047766	0	7	64				
CADPS2	93664	broad.mit.edu	37	7	122033257	122033257	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:122033257C>G	uc010lkp.2	-	21	3164	c.3001G>C	c.(3001-3003)GAG>CAG	p.E1001Q	CADPS2_uc011knx.1_Missense_Mutation_p.E376Q|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1001	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CACGTGGACTCATATAAAGAA	0.458		NaN											0	0	0	0.004672	0	3	36				
CPA4	51200	broad.mit.edu	37	7	129945685	129945685	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:129945685G>A	uc003vpr.2	+	6	563	c.516G>A	c.(514-516)CCG>CCA	p.P172P	CPA4_uc011kpd.1_Silent_p.P139P|CPA4_uc011kpe.1_Silent_p.P68P	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	172					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TGAGGCGGCCGGCCGTTTGGC	0.587		NaN											0	0	0	0.038147	0	6	140				
KRBA1	84626	broad.mit.edu	37	7	149425660	149425660	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:149425660C>G	uc003wfz.2	+	12	1920	c.1521C>G	c.(1519-1521)CTC>CTG	p.L507L	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L175L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	507										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAATTGTCTCAAGGAGATAC	0.577		NaN											0	0	0	0.047766	0	7	221				
ASAH1	427	broad.mit.edu	37	8	17918895	17918895	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:17918895T>C	uc003wyl.2	-	10	1088	c.776A>G	c.(775-777)AAT>AGT	p.N259S	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.N234S|ASAH1_uc003wyn.2_Missense_Mutation_p.N275S|ASAH1_uc003wyo.2_Missense_Mutation_p.N253S	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	259					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCTTGTGCTATTTTCCAGAAC	0.313		NaN											0	0	0	0.014758	0	4	133				
ANK1	286	broad.mit.edu	37	8	41573364	41573364	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:41573364C>T	uc003xok.2	-	14	1492	c.1408G>A	c.(1408-1410)GAC>AAC	p.D470N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.D470N|ANK1_uc003xoj.2_Missense_Mutation_p.D470N|ANK1_uc003xol.2_Missense_Mutation_p.D470N|ANK1_uc003xom.2_Missense_Mutation_p.D503N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	470	ANK 14.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGGTCTGGTCATCCTGGACC	0.373		NaN											0	0	0	0.021553	0	4	50				
KCNB2	9312	broad.mit.edu	37	8	73849986	73849986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:73849986G>C	uc003xzb.2	+	3	2984	c.2396G>C	c.(2395-2397)AGA>ACA	p.R799T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	799	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTCTCTTCAAGAGAGAGGAGG	0.542		NaN											0	0	0	0.014758	0	3	37				
NAA35	60560	broad.mit.edu	37	9	88557196	88557196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:88557196G>A	uc004aoi.3	+	2	259	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	NAA35_uc004aoj.3_Missense_Mutation_p.R41Q|NAA35_uc004aok.1_Missense_Mutation_p.R41Q	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	41					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				skin(2)|central_nervous_system(1)	3						GAAGCTTGTCGAGGTGAGTCT	0.403		NaN											0	0	0	0.069234	0	7	176				
OR13F1	138805	broad.mit.edu	37	9	107267011	107267011	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:107267011C>G	uc011lvm.1	+	1	468	c.468C>G	c.(466-468)GCC>GCG	p.A156A		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						GTCTCACTGCCATGGTGGAAA	0.478		NaN											0	0	0	0.038147	0	5	129				
CERCAM	51148	broad.mit.edu	37	9	131186476	131186476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:131186476G>C	uc004buz.3	+	4	884	c.486G>C	c.(484-486)CAG>CAC	p.Q162H	CERCAM_uc004buy.1_Missense_Mutation_p.Q84H|CERCAM_uc010mxz.2_Missense_Mutation_p.Q84H|CERCAM_uc010mya.1_Missense_Mutation_p.Q3H	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	162					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCATGGGGCAGGGGCTTCCAG	0.612		NaN											0	0	0	0.02938	0	6	146				
SEC16A	9919	broad.mit.edu	37	9	139369336	139369336	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:139369336G>T	uc004chx.2	-	3	3041	c.2732C>A	c.(2731-2733)TCT>TAT	p.S911Y	SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbn.2_Missense_Mutation_p.S911Y|SEC16A_uc010nbo.1_Missense_Mutation_p.S911Y	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	733					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGAAGCACCAGAACCTTGTGG	0.468		NaN											1	0	5.9392e-07	0.021553	6.74576e-07	5	93				
BMX	660	broad.mit.edu	37	X	15540611	15540611	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:15540611G>A	uc004cww.2	+	7	841	c.653G>A	c.(652-654)AGC>AAC	p.S218N	BMX_uc004cwx.3_Missense_Mutation_p.S218N|BMX_uc004cwy.3_Missense_Mutation_p.S218N	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	218					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					CAATATGACAGCAACTCAAAG	0.438		NaN											0	0	0	0.004672	0	3	67				
TAB3	257397	broad.mit.edu	37	X	30872793	30872793	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:30872793G>C	uc004dcj.2	-	6	1652	c.989C>G	c.(988-990)CCC>CGC	p.P330R	TAB3_uc004dck.2_Missense_Mutation_p.P330R|TAB3_uc010ngl.2_Missense_Mutation_p.P330R	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	330	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						ATATGGATGGGGTGGAGTAGT	0.478		NaN											0	0	0	0.014758	0	5	40				
ZXDB	158586	broad.mit.edu	37	X	57619475	57619475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:57619475C>T	uc004dvd.2	+	1	1207	c.994C>T	c.(994-996)CGG>TGG	p.R332W		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	332	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CGACAAACTGCGGCCCTTTGG	0.602		NaN											0	0	0	0.004672	0	3	13				
PGK1	5230	broad.mit.edu	37	X	77372877	77372877	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:77372877C>T	uc004ecz.3	+	5	658	c.486C>T	c.(484-486)GTC>GTT	p.V162V	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.V134V	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	162					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						ATGTCTATGTCAATGATGCTT	0.433		NaN											0	0	0	0.021553	0	4	45				
LRRC47	57470	broad.mit.edu	37	1	3697775	3697775	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:3697775G>A	uc001akx.1	-	7	1657	c.1629C>T	c.(1627-1629)GAC>GAT	p.D543D		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	543					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGGAGGGCCCGTCCTTTCCAG	0.572		NaN											0	0	0	0.00361	0	43	101				
TNFRSF1B	7133	broad.mit.edu	37	1	12251945	12251945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:12251945G>A	uc001att.2	+	4	511	c.422G>A	c.(421-423)CGC>CAC	p.R141H	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	141	TNFR-Cys 3.|Extracellular (Potential).			R -> P (in Ref. 15; AAA63262).	apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCGCCGCTGCGCAAGTGCCGC	0.687		NaN											0	0	0	0.00361	0	69	59				
PDPN	10630	broad.mit.edu	37	1	13933692	13933692	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:13933692A>T	uc001avd.2	+	2	369	c.320A>T	c.(319-321)GAC>GTC	p.D107V	PDPN_uc001avc.2_Missense_Mutation_p.D107V|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	31	Extracellular (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCAGAAGATGACACTGAGACT	0.517		NaN											0	0	0	0.006999	0	34	52				
EPHA2	1969	broad.mit.edu	37	1	16456035	16456035	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:16456035G>T	uc001aya.1	-	16	2856	c.2719C>A	c.(2719-2721)CGC>AGC	p.R907S		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	907	SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GACACCGTGCGGAAGGGCACC	0.478		NaN											1	0	1.66795e-42	0.00361	1.91836e-42	74	59				
WASF2	10163	broad.mit.edu	37	1	27745578	27745578	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27745578C>T	uc001bof.1	-	3	358	c.142G>A	c.(142-144)GAG>AAG	p.E48K	WASF2_uc010ofl.1_Missense_Mutation_p.E48K	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	48					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAAATGTCCTCTGCATATTTA	0.443		NaN											0	0	0	0.008291	0	7	35				
STX12	23673	broad.mit.edu	37	1	28099877	28099877	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:28099877G>C	uc001bou.3	+	1	184	c.59G>C	c.(58-60)CGG>CCG	p.R20P		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	syntaxin 12	20	Cytoplasmic (Potential).				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCTCCGGGACTTCAGC	0.657		NaN											0	0	0	0.006999	0	37	39				
EPB41	2035	broad.mit.edu	37	1	29314319	29314319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:29314319G>A	uc001brm.1	+	1	377	c.370G>A	c.(370-372)GAA>AAA	p.E124K	EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.E124K|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.E124K|EPB41_uc001brk.2_Missense_Mutation_p.E124K|EPB41_uc001brl.1_Missense_Mutation_p.E124K|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_5'UTR	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	124					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGTCTTGATGAAGAGATCAT	0.423		NaN											0	0	0	0.003163	0	13	36				
CLSPN	63967	broad.mit.edu	37	1	36235553	36235553	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:36235553C>T	uc001bzi.2	-	1	1	c.-79_splice	c.e1-1		CLSPN_uc009vux.2_Splice_Site	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin						activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCGCCGTCTCCAGCCCAGCA	0.642		NaN											0	0	0	0.004482	0	9	29				
EIF2C1	26523	broad.mit.edu	37	1	36367599	36367599	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:36367599C>A	uc001bzl.2	+	10	1404	c.1191C>A	c.(1189-1191)ATC>ATA	p.I397I	EIF2C1_uc001bzk.2_Silent_p.I322I|EIF2C1_uc009vuy.2_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	397					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTTGGGATCAAAGTGAAGG	0.542		NaN											1	0	1.22674e-20	0.00874	1.35988e-20	38	64				
KIAA0754	643314	broad.mit.edu	37	1	39876847	39876847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:39876847C>G	uc009vvt.1	+	1	1672	c.910C>G	c.(910-912)CAT>GAT	p.H304D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	168											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGAATTGCATGTTCTCAT	0.522		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	6	15				
SLFNL1	200172	broad.mit.edu	37	1	41486281	41486281	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:41486281C>T	uc001cgm.1	-	2	272	c.52G>A	c.(52-54)GAG>AAG	p.E18K	SLFNL1_uc009vwf.1_Missense_Mutation_p.E18K|SLFNL1_uc001cgn.1_Missense_Mutation_p.E18K|SLFNL1_uc009vwg.1_Missense_Mutation_p.E18K	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	18							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCCAGGACTCCATGAAGGGC	0.607		NaN											0	0	0	0.00361	0	67	62				
TMEM53	79639	broad.mit.edu	37	1	45120323	45120323	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:45120323C>T	uc001cmc.2	-	3	778	c.742G>A	c.(742-744)GTG>ATG	p.V248M	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.V175M|TMEM53_uc009vxh.1_Missense_Mutation_p.V131M|TMEM53_uc010ola.1_Missense_Mutation_p.V131M	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	248						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GCAGATGACACGAAATCCACA	0.592		NaN											0	0	0	0.00361	0	118	134				
NASP	4678	broad.mit.edu	37	1	46073334	46073334	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46073334C>A	uc001coi.1	+	6	853	c.751C>A	c.(751-753)CAA>AAA	p.Q251K	NASP_uc010olq.1_Missense_Mutation_p.Q214K|NASP_uc001coh.1_Missense_Mutation_p.Q253K|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.Q187K|NASP_uc001cok.1_Missense_Mutation_p.Q134K	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	251	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AACTGATGTCCAAGAAGAGTG	0.478		NaN											1	0	2.56e-06	0.009096	2.64e-06	3	16				
MAST2	23139	broad.mit.edu	37	1	46497147	46497147	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46497147C>A	uc001cov.2	+	24	3360	c.3077C>A	c.(3076-3078)GCC>GAC	p.A1026D	MAST2_uc001cow.2_Missense_Mutation_p.A1026D|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1026					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTGCGTAGGGCCCGCCACCGG	0.627		NaN											1	0	1.57351e-24	0.003755	1.75791e-24	32	96				
MAST2	23139	broad.mit.edu	37	1	46501315	46501315	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46501315G>C	uc001cov.2	+	29	5257	c.4974G>C	c.(4972-4974)TGG>TGC	p.W1658C	MAST2_uc001cow.2_Missense_Mutation_p.W1657C|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1658					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGTGGTCCTGGAAATCCCTTA	0.572		NaN											0	0	0	0.002299	0	18	49				
UQCRH	7388	broad.mit.edu	37	1	46769446	46769446	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46769446T>C	uc001cpp.2	+	1	67	c.8T>C	c.(7-9)CTG>CCG	p.L3P	LRRC41_uc001cpn.2_5'Flank|LRRC41_uc010omb.1_5'Flank|LRRC41_uc001cpo.1_5'Flank|UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	3					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)					GACATGGGACTGGAGGACGAG	0.552		NaN											0	0	0	0.005443	0	20	60				
ATPAF1	64756	broad.mit.edu	37	1	47110887	47110887	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:47110887A>G	uc001cqh.2	-	7	735	c.630T>C	c.(628-630)TTT>TTC	p.F210F	ATPAF1_uc001cqg.2_Intron|ATPAF1_uc009vyk.2_Silent_p.F59F|ATPAF1_uc010omg.1_Silent_p.F122F|ATPAF1_uc001cqi.2_Intron	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly	210					protein complex assembly	mitochondrion	protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ATTGTCCTACAAAAAACTCAT	0.398		NaN											0	0	0	0.006122	0	15	48				
RAB3B	5865	broad.mit.edu	37	1	52442691	52442691	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52442691A>C	uc001cth.2	-	2	224	c.99T>G	c.(97-99)GTT>GTG	p.V33V		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	33	GTP.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						AGGTCTTGCCAACACTGCTGT	0.483		NaN											0	0	0	0.00361	0	67	39				
CC2D1B	200014	broad.mit.edu	37	1	52821951	52821951	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52821951C>G	uc001ctq.1	-	18	2117	c.1979G>C	c.(1978-1980)CGC>CCC	p.R660P	CC2D1B_uc001ctr.2_Missense_Mutation_p.R200P|CC2D1B_uc001cts.2_Missense_Mutation_p.R345P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	660										ovary(2)	2						CTGTTTCTTGCGGTCCTGAGC	0.567		NaN											0	0	0	0.00874	0	39	126				
PODN	127435	broad.mit.edu	37	1	53542872	53542872	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:53542872C>G	uc001cuv.2	+	6	743	c.736C>G	c.(736-738)CTG>GTG	p.L246V	PODN_uc001cuw.2_Missense_Mutation_p.L227V|PODN_uc010onr.1_Missense_Mutation_p.L227V|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	198	LRR 5.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GTCTGTGTACCTGCACAACAA	0.627		NaN											0	0	0	0.00361	0	66	204				
EFCAB7	84455	broad.mit.edu	37	1	64021038	64021038	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:64021038T>C	uc001dbf.2	+	9	1360	c.1066T>C	c.(1066-1068)TGG>CGG	p.W356R		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	356							calcium ion binding				0						GGTGTTTGGATGGACTGGTGA	0.343		NaN											0	0	0	0.00361	0	34	22				
TNNI3K	51086	broad.mit.edu	37	1	74835181	74835181	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:74835181G>A	uc001dgf.1	+	16	1630	c.1579G>A	c.(1579-1581)GCT>ACT	p.A527T	TNNI3K_uc001dgc.1_Missense_Mutation_p.A628T|TNNI3K_uc001dgd.2_Missense_Mutation_p.A628T|TNNI3K_uc001dge.1_Missense_Mutation_p.A628T	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	527	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GTTTGTGGGTGCTTGCTTGAA	0.478		NaN											0	0	0	0.002096	0	26	61				
ZZZ3	26009	broad.mit.edu	37	1	78050334	78050334	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:78050334C>T	uc001dhq.2	-	6	1988	c.1512G>A	c.(1510-1512)CAG>CAA	p.Q504Q	ZZZ3_uc001dhr.2_Silent_p.Q10Q|ZZZ3_uc009wbz.1_3'UTR|ZZZ3_uc001dhp.2_Silent_p.Q504Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GTAATAGTCTCTGATAACTAC	0.373		NaN											0	0	0	0.00308	0	7	17				
COL24A1	255631	broad.mit.edu	37	1	86590911	86590911	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:86590911G>A	uc001dlj.2	-	3	1150	c.1108C>T	c.(1108-1110)CTC>TTC	p.L370F	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.L370F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	370					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATGTTTAGGAGAGAGCTAAAT	0.378		NaN											0	0	0	0.009535	0	21	19				
SLC30A7	148867	broad.mit.edu	37	1	101362198	101362198	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:101362198G>A	uc001dtn.2	+	2	340	c.153G>A	c.(151-153)GTG>GTA	p.V51V	EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Silent_p.V51V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	51	Helical; (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCGCTTTTGTGGAACTACTCT	0.502		NaN											0	0	0	0.00308	0	7	19				
KIAA1324	57535	broad.mit.edu	37	1	109731742	109731742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:109731742G>A	uc001dwq.2	+	11	1410	c.1274G>A	c.(1273-1275)TGG>TAG	p.W425*	KIAA1324_uc009wex.1_Nonsense_Mutation_p.W375*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.W338*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.W323*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.W75*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	425	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAATACAAATGGTGGAACACG	0.527		NaN											0	0	0	0.003271	0	30	30				
PTPN22	26191	broad.mit.edu	37	1	114372323	114372323	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114372323T>G	uc001eds.2	-	18	2271	c.2141A>C	c.(2140-2142)CAG>CCG	p.Q714P	PTPN22_uc009wgq.2_Missense_Mutation_p.Q659P|PTPN22_uc010owo.1_Missense_Mutation_p.Q470P|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q714P|PTPN22_uc009wgs.2_Missense_Mutation_p.Q587P	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	714					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATTGGGCCTGCATACCTTA	0.338		NaN											0	0	0	0.004672	0	3	15				
AP4B1	10717	broad.mit.edu	37	1	114442966	114442966	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114442966T>C	uc001eeb.2	-	5	817	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.Y57C|AP4B1_uc001eed.2_Missense_Mutation_p.Y225C|AP4B1_uc010owp.1_Missense_Mutation_p.Y126C|AP4B1_uc001eea.1_Missense_Mutation_p.Y19C|AP4B1_uc010owq.1_Missense_Mutation_p.Y132C	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	225					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGTTGGTAGCGTAGCAG	0.423		NaN											0	0	0	0.00632	0	21	29				
HIPK1	204851	broad.mit.edu	37	1	114512680	114512680	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114512680G>A	uc001eem.2	+	14	3035	c.2874G>A	c.(2872-2874)CTG>CTA	p.L958L	HIPK1_uc001eel.2_Silent_p.L958L|HIPK1_uc001een.2_Silent_p.L958L|HIPK1_uc001eeo.2_Silent_p.L584L|HIPK1_uc001eep.2_Silent_p.L564L|HIPK1_uc001eeq.2_Silent_p.L250L	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	958	Required for localization to nuclear speckles (By similarity).|Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATACCCTGAGTGCTCTCC	0.507		NaN											0	0	0	0.00361	0	49	103				
ZNF697	90874	broad.mit.edu	37	1	120166097	120166097	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120166097A>T	uc001ehy.1	-	3	983	c.869T>A	c.(868-870)CTG>CAG	p.L290Q		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	290	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GTCGGCGCACAGGTTGGGCCG	0.687		NaN											0	0	0	0.004656	0	21	17				
NOTCH2	4853	broad.mit.edu	37	1	120529583	120529583	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120529583C>T	uc001eik.2	-	5	1130	c.874G>A	c.(874-876)GGA>AGA	p.G292R	NOTCH2_uc001eil.2_Missense_Mutation_p.G292R|NOTCH2_uc001eim.3_Missense_Mutation_p.G209R	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	292	EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACATACCTGTCCATTGT	0.458		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.00361	0	37	44				
RPRD2	23248	broad.mit.edu	37	1	150444196	150444196	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:150444196G>T	uc009wlr.2	+	11	2973	c.2772G>T	c.(2770-2772)GGG>GGT	p.G924G	RPRD2_uc010pcc.1_Silent_p.G898G|RPRD2_uc001eup.3_Silent_p.G898G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	924	Ser-rich.						protein binding			ovary(1)	1						ATGAACCTGGGTCTGACCGGT	0.507		NaN											1	0	1.28101e-76	0.00361	1.49742e-76	127	119				
FLG2	388698	broad.mit.edu	37	1	152328005	152328005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:152328005C>T	uc001ezw.3	-	3	2330	c.2257G>A	c.(2257-2259)GGA>AGA	p.G753R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	753	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGATTGTCCTGAGCCAGAC	0.512		NaN											0	0	0	0.00361	0	148	236				
GON4L	54856	broad.mit.edu	37	1	155796703	155796703	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:155796703G>C	uc001flz.2	-	3	719	c.622C>G	c.(622-624)CAA>GAA	p.Q208E	GON4L_uc001fly.1_Missense_Mutation_p.Q208E|GON4L_uc009wrh.1_Missense_Mutation_p.Q208E|GON4L_uc001fma.1_Missense_Mutation_p.Q208E|GON4L_uc001fmc.2_Missense_Mutation_p.Q208E|GON4L_uc001fmd.3_Missense_Mutation_p.Q208E|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q36E	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	208					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTTTTCTTGAGGAGAGGCA	0.468		NaN											0	0	0	0.006122	0	14	49				
OR10Z1	128368	broad.mit.edu	37	1	158576875	158576875	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:158576875T>C	uc010pio.1	+	1	647	c.647T>C	c.(646-648)ATC>ACC	p.I216T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TTCATCACCATCTCCTACGCC	0.532		NaN											0	0	0	0.009535	0	30	34				
ADCY10	55811	broad.mit.edu	37	1	167814903	167814903	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:167814903C>T	uc001ger.2	-	21	3203	c.2905G>A	c.(2905-2907)GGC>AGC	p.G969S	ADCY10_uc009wvk.2_Missense_Mutation_p.G877S|ADCY10_uc010plj.1_Missense_Mutation_p.G816S|ADCY10_uc009wvl.2_Missense_Mutation_p.G968S	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	969					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						AAGTCCCTGCCTCGGCAGTGG	0.463		NaN											0	0	0	0.007413	0	15	36				
RFWD2	64326	broad.mit.edu	37	1	176133011	176133011	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:176133011A>G	uc001gku.1	-	4	838	c.582T>C	c.(580-582)CTT>CTC	p.L194L	RFWD2_uc001gkv.1_Silent_p.L194L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Silent_p.L53L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	194					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GCTTCTGTTTAAGAATGAGTT	0.289		NaN											0	0	0	0.004672	0	2	7				
PRG4	10216	broad.mit.edu	37	1	186280667	186280667	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:186280667G>A	uc001gru.3	+	10	3783	c.3732G>A	c.(3730-3732)GTG>GTA	p.V1244V	PRG4_uc001grt.3_Silent_p.V1203V|PRG4_uc009wyl.2_Silent_p.V1151V|PRG4_uc009wym.2_Silent_p.V1110V|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1244					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GACAAATAGTGGCAGCGCTTT	0.363		NaN											0	0	0	0.00308	0	7	16				
CRB1	23418	broad.mit.edu	37	1	197390711	197390711	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:197390711G>C	uc001gtz.2	+	6	1888	c.1753G>C	c.(1753-1755)GAC>CAC	p.D585H	CRB1_uc010poz.1_Missense_Mutation_p.D516H|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.D473H|CRB1_uc010ppb.1_Missense_Mutation_p.D585H|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D66H|CRB1_uc001gub.1_Missense_Mutation_p.D234H	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	585	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CTTAATCGACGACTCCTGTAA	0.453		NaN											0	0	0	0.008871	0	20	24				
SYT2	127833	broad.mit.edu	37	1	202569525	202569525	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202569525C>T	uc001gye.2	-	7	1072	c.879G>A	c.(877-879)GAG>GAA	p.E293E	SYT2_uc010pqb.1_Silent_p.E293E|SYT2_uc009xaf.2_Silent_p.E123E	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	293	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGTTCTTAGCCTCCAGGATGC	0.617		NaN									OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	56	55				
CYB5R1	51706	broad.mit.edu	37	1	202935955	202935955	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202935955C>T	uc001gyt.2	-	2	158	c.87G>A	c.(85-87)TTG>TTA	p.L29L	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	29					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			ACCTCCGAACCAAGTAGGAGC	0.642		NaN											0	0	0	0.004482	0	9	37				
REN	5972	broad.mit.edu	37	1	204124152	204124152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204124152C>T	uc001haq.2	-	10	1257	c.1213G>A	c.(1213-1215)GCC>ACC	p.A405T	ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	405					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCTCAGCGGGCCAAGGCGAAG	0.647		NaN											0	0	0	0.00333	0	18	66				
LRRN2	10446	broad.mit.edu	37	1	204587882	204587882	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204587882G>A	uc001hbe.1	-	3	1627	c.1239C>T	c.(1237-1239)TTC>TTT	p.F413F	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.F413F|LRRN2_uc009xbf.1_Silent_p.F413F|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	413	Extracellular (Potential).|LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCATCTCCCGGAAGGGCACCT	0.662		NaN											0	0	0	0.010504	0	20	67				
CR1	1378	broad.mit.edu	37	1	207679368	207679369	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207679368_207679369CC>GA	uc001hfy.2	+	2	381_382	c.241_242CC>GA	c.(241-243)CCG>GAG	p.P81E	CR1_uc009xcl.1_Missense_Mutation_p.P81E|CR1_uc001hfx.2_Missense_Mutation_p.P81E|CR1_uc010psg.1_Missense_Mutation_p.P81E|CR1_uc009xcj.1_Missense_Mutation_p.P81E|CR1_uc009xck.1_Missense_Mutation_p.P81E	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	81	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTCCGGAAGACCGTTTTCTATC	0.47		NaN											0	0	0	0.004672	0	8	44				
CD46	4179	broad.mit.edu	37	1	207930506	207930506	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207930506G>A	uc001hgc.2	+	2	401	c.245G>A	c.(244-246)CGG>CAG	p.R82Q	CD46_uc001hgd.2_Missense_Mutation_p.R82Q|CD46_uc001hge.2_Missense_Mutation_p.R82Q|CD46_uc001hgf.2_Missense_Mutation_p.R82Q|CD46_uc001hgg.2_Missense_Mutation_p.R82Q|CD46_uc001hgh.2_Missense_Mutation_p.R82Q|CD46_uc001hgi.2_Missense_Mutation_p.R82Q|CD46_uc001hgj.2_Missense_Mutation_p.R82Q|CD46_uc001hgk.2_Missense_Mutation_p.R82Q|CD46_uc001hgl.2_Missense_Mutation_p.R82Q|CD46_uc001hgm.2_Missense_Mutation_p.R82Q|CD46_uc001hgn.2_Missense_Mutation_p.R82Q|CD46_uc001hgo.2_Missense_Mutation_p.R82Q|CD46_uc001hgp.2_Missense_Mutation_p.R82Q	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	82	Extracellular (Potential).|Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						ATTTGTGATCGGAATCATACA	0.368		NaN											0	0	0	0.006999	0	31	29				
FLVCR1	28982	broad.mit.edu	37	1	213032442	213032442	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:213032442C>T	uc001hjt.2	+	1	846	c.648C>T	c.(646-648)TTC>TTT	p.F216F	LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular	216	Helical; (Potential).				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCCAGGTGTTCATCCTGGGCT	0.607		NaN											0	0	0	0.00361	0	46	67				
CDC42BPA	8476	broad.mit.edu	37	1	227259910	227259910	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:227259910C>T	uc001hqr.2	-	20	3769	c.2826G>A	c.(2824-2826)AAG>AAA	p.K942K	CDC42BPA_uc001hqq.2_Silent_p.K206K|CDC42BPA_uc001hqs.2_Silent_p.K861K|CDC42BPA_uc009xes.2_Silent_p.K942K|CDC42BPA_uc010pvs.1_Silent_p.K942K|CDC42BPA_uc001hqp.2_Silent_p.K98K|CDC42BPA_uc001hqu.1_Silent_p.K98K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	942	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCCATACCCTTTTCAGATC	0.348		NaN											0	0	0	0.000978	0	8	18				
KIAA1804	84451	broad.mit.edu	37	1	233512183	233512183	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:233512183C>A	uc001hvt.3	+	8	2095	c.1834C>A	c.(1834-1836)CCT>ACT	p.P612T	KIAA1804_uc001hvu.3_Missense_Mutation_p.P58T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	612					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TAGGATAAGACCTCTCTCCGA	0.378		NaN											1	0	0.000602214	0.000602	0.000615119	3	17				
FH	2271	broad.mit.edu	37	1	241680601	241680601	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:241680601A>T	uc001hyx.2	-	2	180	c.148T>A	c.(148-150)TTC>ATC	p.F50I		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	50					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCTATCCGGAAGGAATTTTGG	0.383		NaN	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				0	0	0	0.004672	0	3	16				
PFKP	5214	broad.mit.edu	37	10	3162099	3162099	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:3162099C>T	uc001igp.2	+	16	1582	c.1546C>T	c.(1546-1548)CTG>TTG	p.L516L	PFKP_uc001igq.2_Silent_p.L508L|PFKP_uc009xhr.2_Silent_p.L478L|PFKP_uc009xhs.1_Silent_p.L300L|PFKP_uc009xht.2_Silent_p.L254L|PFKP_uc009xhu.2_Silent_p.L22L	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	516					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGGGACTCCTGGAGCTGTC	0.632		NaN									OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	72	175				
ITIH5	80760	broad.mit.edu	37	10	7621948	7621948	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:7621948C>A	uc001ijq.2	-	9	1267	c.1188G>T	c.(1186-1188)CGG>CGT	p.R396R	ITIH5_uc001ijp.2_Silent_p.R182R|ITIH5_uc001ijr.1_Silent_p.R396R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	396	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GGGACACGCTCCGGTCTCCAA	0.632		NaN											1	0	8.20599e-20	0.002852	9.07311e-20	44	38				
PRPF18	8559	broad.mit.edu	37	10	13655788	13655788	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:13655788T>C	uc001imp.2	+	7	775	c.627T>C	c.(625-627)TAT>TAC	p.Y209Y	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	209					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						GAGAAGATTATGTGAAACGCA	0.453		NaN											0	0	0	0.000978	0	10	41				
ZNF485	220992	broad.mit.edu	37	10	44112556	44112556	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:44112556G>A	uc010qfc.1	+	5	1259	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	ZNF485_uc010qfd.1_Silent_p.Q264Q	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	355	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AACCGTATCAGTGTCGTGACT	0.428		NaN											0	0	0	0.008871	0	17	69				
SYT15	83849	broad.mit.edu	37	10	46969378	46969378	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:46969378A>G	uc001jea.2	-	2	236	c.83T>C	c.(82-84)CTG>CCG	p.L28P	SYT15_uc001jdz.2_Missense_Mutation_p.L28P|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	28	Helical; Signal-anchor for type III membrane protein; (Potential).					integral to membrane|plasma membrane					0						CCTTCTCCACAGACAGCAGCT	0.652		NaN											0	0	0	0.00361	0	55	162				
NRBF2	29982	broad.mit.edu	37	10	64911926	64911926	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:64911926C>G	uc001jmj.3	+	3	356	c.132C>G	c.(130-132)GCC>GCG	p.A44A	NRBF2_uc010qip.1_Silent_p.A34A	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	44					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTCTGAAGCCATGAAGCTGA	0.353		NaN											0	0	0	0.008291	0	8	43				
CDH23	64072	broad.mit.edu	37	10	73574769	73574769	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:73574769C>T	uc001jrx.3	+	68	10176	c.9799C>T	c.(9799-9801)CGC>TGC	p.R3267C	CDH23_uc001jsg.3_Missense_Mutation_p.R1027C|CDH23_uc001jsh.3_Missense_Mutation_p.R992C|CDH23_uc001jsi.3_Missense_Mutation_p.R992C|CDH23_uc001jsj.3_Missense_Mutation_p.R164C|CDH23_uc010qjr.1_Missense_Mutation_p.R129C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3267	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGGTAGCCTGCGCTTCCGCCA	0.667		NaN											0	0	0	0.006122	0	15	86				
CAMK2G	818	broad.mit.edu	37	10	75634270	75634270	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:75634270C>T	uc001jvv.1	-	1	74	c.-50G>A	c.(-52--48)CTGTG>CTATG		CAMK2G_uc001jvm.1_Translation_Start_Site|CAMK2G_uc001jvo.1_Translation_Start_Site|CAMK2G_uc001jvq.1_Translation_Start_Site|CAMK2G_uc001jvr.1_Translation_Start_Site|CAMK2G_uc001jvp.1_Translation_Start_Site|CAMK2G_uc001jvs.1_Translation_Start_Site|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Translation_Start_Site|CAMK2G_uc010qkv.1_Translation_Start_Site	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CGTCGGTGCACAGTCACCGCC	0.721		NaN											0	0	0	0.000978	0	8	27				
PLCE1	51196	broad.mit.edu	37	10	96025625	96025625	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:96025625C>T	uc001kjk.2	+	16	4825	c.4191C>T	c.(4189-4191)CCC>CCT	p.P1397P	PLCE1_uc010qnx.1_Silent_p.P1381P|PLCE1_uc001kjm.2_Silent_p.P1089P	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1397	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGCAGCTACCCCTCTCATACT	0.413		NaN											0	0	0	0.007413	0	18	4				
PDZD8	118987	broad.mit.edu	37	10	119044045	119044045	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:119044045A>T	uc001lde.1	-	5	2398	c.2199T>A	c.(2197-2199)AGT>AGA	p.S733R		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	733					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CAAGTTTTAAACTAACATGCC	0.438		NaN											0	0	0	0.00245	0	12	4				
MKI67	4288	broad.mit.edu	37	10	129903242	129903242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:129903242G>A	uc001lke.2	-	13	7057	c.6862C>T	c.(6862-6864)CAG>TAG	p.Q2288*	MKI67_uc001lkf.2_Nonsense_Mutation_p.Q1928*|MKI67_uc009yav.1_Nonsense_Mutation_p.Q1863*|MKI67_uc009yaw.1_Nonsense_Mutation_p.Q1438*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2288	16 X 122 AA approximate repeats.|11.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAATTTCTGCACTGGAGTT	0.483		NaN											0	0	0	0.00361	0	45	20				
GPR123	84435	broad.mit.edu	37	10	134912182	134912182	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:134912182T>A	uc001llx.3	+	4	606	c.170T>A	c.(169-171)CTG>CAG	p.L57Q	GPR123_uc001llw.2_Missense_Mutation_p.L777Q	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	57	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CACACGCTCCTGAATTTCTGC	0.652		NaN											0	0	0	0.00361	0	88	45				
NLRP6	171389	broad.mit.edu	37	11	285201	285201	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:285201A>G	uc010qvs.1	+	8	2576	c.2576A>G	c.(2575-2577)CAG>CGG	p.Q859R	NLRP6_uc010qvt.1_Missense_Mutation_p.Q858R	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	859	LRR 5.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGTCACTACAGGAGCTTCAG	0.622		NaN											0	0	0	0.006214	0	7	14				
CARS	833	broad.mit.edu	37	11	3026647	3026647	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:3026647C>T	uc001lxh.2	-	19	1991	c.1917G>A	c.(1915-1917)GTG>GTA	p.V639V	CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Silent_p.V629V|CARS_uc001lxf.2_Silent_p.V722V|CARS_uc001lxg.2_Silent_p.V639V|CARS_uc010qxo.1_Silent_p.V722V|CARS_uc010qxp.1_Silent_p.V652V	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	639					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTACCAGTTTCACCACTGTGG	0.408		NaN	T	ALK	ALCL								0	0	0	0.003755	0	30	39				
OR52N5	390075	broad.mit.edu	37	11	5799737	5799737	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:5799737T>A	uc010qzn.1	-	1	128	c.128A>T	c.(127-129)TAC>TTC	p.Y43F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAAGATGATGTACATTGTGCA	0.408		NaN											0	0	0	0.00361	0	44	36				
RRP8	23378	broad.mit.edu	37	11	6621449	6621449	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6621449C>T	uc001med.2	-	7	1377	c.1298G>A	c.(1297-1299)GGG>GAG	p.G433E		NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	433					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						CAGAGGGGGCCCAGTCTTTTG	0.522		NaN											0	0	0	0.007291	0	24	21				
DCHS1	8642	broad.mit.edu	37	11	6652344	6652344	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6652344T>A	uc001mem.1	-	9	4280	c.3870A>T	c.(3868-3870)ACA>ACT	p.T1290T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1290	Cadherin 12.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACTCAGTGTCAGCACAT	0.622		NaN											0	0	0	0.004007	0	13	21				
E2F8	79733	broad.mit.edu	37	11	19253864	19253864	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:19253864A>G	uc001mpm.2	-	7	1505	c.983T>C	c.(982-984)ATC>ACC	p.I328T	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I328T	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	328	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AACTTTCTTGATAAGATCCAG	0.358		NaN											0	0	0	0.003755	0	31	21				
CRY2	1408	broad.mit.edu	37	11	45891186	45891186	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:45891186C>T	uc010rgn.1	+	7	1097	c.1075C>T	c.(1075-1077)CCC>TCC	p.P359S	CRY2_uc009ykw.2_Missense_Mutation_p.P277S|CRY2_uc010rgo.1_Missense_Mutation_p.P81S	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	338	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						CATCCAGATCCCCTGGGACCG	0.587		NaN											0	0	0	0.00361	0	43	161				
OR4A16	81327	broad.mit.edu	37	11	55111294	55111294	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:55111294G>A	uc010rie.1	+	1	618	c.618G>A	c.(616-618)ATG>ATA	p.M206I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TAATTTGTATGGTCATCTTTA	0.438		NaN											0	0	0	0.00245	0	15	86				
HRASLS5	117245	broad.mit.edu	37	11	63233662	63233662	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:63233662T>C	uc001nwy.2	-	5	841	c.667A>G	c.(667-669)ATC>GTC	p.I223V	HRASLS5_uc001nwz.2_Missense_Mutation_p.I213V|HRASLS5_uc010rmq.1_Missense_Mutation_p.I223V|HRASLS5_uc009yos.2_RNA	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	223										ovary(1)	1						TACTGCACGATCTTGTTGACC	0.527		NaN											0	0	0	0.006122	0	17	46				
PRDX5	25824	broad.mit.edu	37	11	64085714	64085714	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64085714G>A	uc001nzu.2	+	1	146	c.27G>A	c.(25-27)CTG>CTA	p.L9L	TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Silent_p.L9L|PRDX5_uc001nzw.2_Silent_p.L9L|PRDX5_uc001nzx.2_5'Flank	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	9					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	TGTGCGCCCTGAGACGCTCAG	0.701		NaN											0	0	0	0.002445	0	26	95				
NRXN2	9379	broad.mit.edu	37	11	64480980	64480980	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64480980C>A	uc001oar.2	-	3	631	c.192G>T	c.(190-192)GCG>GCT	p.A64A	NRXN2_uc001oas.2_Silent_p.A64A	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	130	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						AGAGCAGCAGCGCGCGCGTGG	0.751		NaN											1	0	2.35188e-11	0.006122	2.52239e-11	13	5				
DKFZp761E198	91056	broad.mit.edu	37	11	65547232	65547232	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:65547232T>A	uc001ofo.3	-	1	591	c.561A>T	c.(559-561)GCA>GCT	p.A187A		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	187	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CCTCCTCAGCTGCCGGCCAGC	0.662		NaN											0	0	0	0.00361	0	141	115				
B3GNT1	11041	broad.mit.edu	37	11	66114948	66114948	+	Silent	SNP	C	C	G	rs146812867	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66114948C>G	uc001ohr.2	-	1	214	c.69G>C	c.(67-69)GCG>GCC	p.A23A	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	23	Helical; Signal-anchor for type II membrane protein; (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0						GCTGCAGCATCGCCACCAGCA	0.647		NaN											0	0	0	0.00499	0	17	23				
TCIRG1	10312	broad.mit.edu	37	11	67816717	67816717	+	Missense_Mutation	SNP	C	C	T	rs141780643		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:67816717C>T	uc001one.2	+	15	1951	c.1843C>T	c.(1843-1845)CTC>TTC	p.L615F	TCIRG1_uc001ong.2_Missense_Mutation_p.L399F|TCIRG1_uc001onh.2_Missense_Mutation_p.L317F|TCIRG1_uc001oni.2_Missense_Mutation_p.L119F|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	615	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						CAACATGTTCCTCTTCTCCCA	0.657		NaN											0	0	0	0.00361	0	51	175				
LRP5	4041	broad.mit.edu	37	11	68207303	68207303	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:68207303G>T	uc001ont.2	+	21	4482	c.4407G>T	c.(4405-4407)GGG>GGT	p.G1469G	LRP5_uc009ysg.2_Silent_p.G879G	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1469	Cytoplasmic (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GCCGGGGCGGGGTGCCCCTCT	0.632		NaN											1	0	9.45814e-24	0.004878	1.05391e-23	28	28				
MYO7A	4647	broad.mit.edu	37	11	76915135	76915135	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:76915135A>G	uc001oyb.2	+	39	5613	c.5341A>G	c.(5341-5343)ATG>GTG	p.M1781V	MYO7A_uc001oyc.2_Missense_Mutation_p.M1743V|MYO7A_uc001oye.2_RNA	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1781	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GCTCAAGTACATGGGCGACTA	0.617		NaN											0	0	0	0.000602	0	4	13				
MLL	4297	broad.mit.edu	37	11	118368671	118368671	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:118368671T>G	uc001pta.2	+	21	5699	c.5676T>G	c.(5674-5676)TAT>TAG	p.Y1892*	MLL_uc001ptb.2_Nonsense_Mutation_p.Y1895*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1892					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTTTACTATATATTGGCCAAA	0.378		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.003163	0	13	27		Valid		
HSPA8	3312	broad.mit.edu	37	11	122929417	122929417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:122929417G>A	uc001pyo.2	-	7	1523	c.1445C>T	c.(1444-1446)GCC>GTC	p.A482V	HSPA8_uc009zbc.2_Missense_Mutation_p.A246V|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.A405V	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	482					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TATACCATTGGCATCAATGTC	0.448		NaN											0	0	0	0.009535	0	29	35				
WNK1	65125	broad.mit.edu	37	12	989117	989117	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:989117G>T	uc001qio.3	+	11	3259	c.2752G>T	c.(2752-2754)GCA>TCA	p.A918S	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	918					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTACAACCAGCAGTTCAGTC	0.512		NaN											1	0	3.86236e-30	0.00361	4.3604e-30	39	41				
WNK1	65125	broad.mit.edu	37	12	994164	994164	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:994164C>T	uc001qio.3	+	19	4701	c.4194C>T	c.(4192-4194)CTC>CTT	p.L1398L	WNK1_uc001qip.3_Silent_p.L1151L|WNK1_uc001qir.3_Silent_p.L571L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1398					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGGTGGTCTCCCCATACCAC	0.478		NaN											0	0	0	0.004878	0	34	34				
SCNN1A	6337	broad.mit.edu	37	12	6471317	6471317	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6471317T>C	uc001qnx.2	-	4	1064	c.775A>G	c.(775-777)ATC>GTC	p.I259V	SCNN1A_uc001qnv.2_5'UTR|SCNN1A_uc001qnw.2_Missense_Mutation_p.I318V|SCNN1A_uc010sfb.1_Missense_Mutation_p.I282V	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	259	Extracellular (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	CTCGACAGGATGTTGATGTAG	0.572		NaN											0	0	0	0.002096	0	29	91				
NECAP1	25977	broad.mit.edu	37	12	8245362	8245362	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:8245362C>G	uc001qtx.2	+	5	552	c.474C>G	c.(472-474)ACC>ACG	p.T158T	NECAP1_uc001qty.2_Silent_p.T16T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	158					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		AAGGACAAACCATCAAGTTGT	0.403		NaN											0	0	0	0.001368	0	9	13				
KIF21A	55605	broad.mit.edu	37	12	39763563	39763563	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:39763563G>T	uc001rly.2	-	3	564	c.418C>A	c.(418-420)CCA>ACA	p.P140T	KIF21A_uc001rlx.2_Missense_Mutation_p.P140T|KIF21A_uc001rlz.2_Missense_Mutation_p.P140T|KIF21A_uc010skl.1_Missense_Mutation_p.P140T|KIF21A_uc001rma.1_Missense_Mutation_p.P140T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299		NaN											1	0	2.56e-06	0.009096	2.64e-06	4	8				
NELL2	4753	broad.mit.edu	37	12	44917077	44917077	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:44917077A>G	uc001rog.2	-	17	2590	c.1995T>C	c.(1993-1995)TGT>TGC	p.C665C	NELL2_uc001rof.3_Silent_p.C664C|NELL2_uc001roh.2_Silent_p.C665C|NELL2_uc009zkd.2_Silent_p.C617C|NELL2_uc010skz.1_Silent_p.C715C|NELL2_uc010sla.1_Silent_p.C688C|NELL2_uc001roi.1_Silent_p.C665C	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	665	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACCAACCTGACATGAGCACA	0.259		NaN											0	0	0	0.004289	0	35	65				
ARID2	196528	broad.mit.edu	37	12	46287258	46287258	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:46287258A>T	uc001ros.1	+	19	5203	c.5203A>T	c.(5203-5205)AAT>TAT	p.N1735Y	ARID2_uc001ror.2_Missense_Mutation_p.N1735Y|ARID2_uc009zkg.1_Missense_Mutation_p.N1191Y|ARID2_uc009zkh.1_Missense_Mutation_p.N1362Y|ARID2_uc001rou.1_Missense_Mutation_p.N1069Y	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1735					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGCCATTGTGAATCATCCCAG	0.393		NaN											0	0	0	0.009096	0	3	20		Valid		
DHH	50846	broad.mit.edu	37	12	49488197	49488197	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:49488197G>A	uc001rtf.2	-	1	406	c.99C>T	c.(97-99)CGC>CGT	p.R33R		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	33					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GCGCATAGCGGCGCCGGCCAA	0.602		NaN											0	0	0	0.000978	0	11	26				
ZNF385A	25946	broad.mit.edu	37	12	54765302	54765302	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:54765302T>C	uc001sfw.1	-	4	742	c.559A>G	c.(559-561)AAG>GAG	p.K187E	ZNF385A_uc001sfv.1_Missense_Mutation_p.K168E|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.K187E|ZNF385A_uc001sfy.3_Missense_Mutation_p.K207E|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	187	Matrin-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						ACAGCCACCTTGCACAGAGCA	0.612		NaN											0	0	0	0.00361	0	96	83				
ZC3H10	84872	broad.mit.edu	37	12	56515604	56515604	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:56515604T>C	uc001sjp.1	+	3	1447	c.1258T>C	c.(1258-1260)TAC>CAC	p.Y420H		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	420							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CATGGTGACTTACCCTATCGC	0.602		NaN											0	0	0	0.00361	0	45	31				
LRP1	4035	broad.mit.edu	37	12	57572754	57572754	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57572754G>T	uc001snd.2	+	28	5154	c.4688G>T	c.(4687-4689)TGC>TTC	p.C1563F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1563	EGF-like 7.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGTGTCCTGCGCCTGCCCC	0.632		NaN											1	0	1.39691e-52	0.00361	1.62405e-52	87	119				
LRP1	4035	broad.mit.edu	37	12	57598266	57598266	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57598266C>T	uc001snd.2	+	71	11491	c.11025C>T	c.(11023-11025)GGC>GGT	p.G3675G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3675	Extracellular (Potential).|LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTGCGATGGCGAGGATGACT	0.632		NaN											0	0	0	0.002836	0	30	107				
MBD6	114785	broad.mit.edu	37	12	57919889	57919889	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57919889G>C	uc001soj.1	+	6	1362	c.1138G>C	c.(1138-1140)GGC>CGC	p.G380R	MBD6_uc001sok.1_Missense_Mutation_p.G247R|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	380	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						AGAAGGGAGAGGCCCTCAAAC	0.617		NaN											0	0	0	0.00361	0	77	77				
USP15	9958	broad.mit.edu	37	12	62785202	62785202	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:62785202G>A	uc001src.1	+	16	2235	c.2226G>A	c.(2224-2226)AGG>AGA	p.R742R	USP15_uc001srb.1_Silent_p.R713R	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	742					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCAGCTTAGGCTAGATGGTA	0.343		NaN											0	0	0	0.00278	0	17	9				
WIF1	11197	broad.mit.edu	37	12	65514281	65514281	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:65514281A>G	uc001ssk.2	-	2	349	c.204T>C	c.(202-204)CAT>CAC	p.H68H		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	68	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCTGAAATCATGTGTAAAAG	0.378		NaN	T	HMGA2	pleomorphic salivary gland adenoma								0	0	0	0.004656	0	20	19				
TMBIM4	51643	broad.mit.edu	37	12	66531850	66531850	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:66531850G>A	uc001stc.2	-	7	683	c.607C>T	c.(607-609)CAT>TAT	p.H203Y	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.H172Y|TMBIM4_uc009zqr.2_Missense_Mutation_p.H250Y|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	203						integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		GACAGTTTATGCATCAGTGAG	0.413		NaN											0	0	0	0.008291	0	8	33				
LYZ	4069	broad.mit.edu	37	12	69746950	69746950	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:69746950G>A	uc001suw.2	+	4	453	c.398G>A	c.(397-399)CGT>CAT	p.R133H		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	133					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGGAGAAATCGTTGTCAAAAC	0.398		NaN											0	0	0	0.002836	0	27	40				
ALX1	8092	broad.mit.edu	37	12	85694982	85694982	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:85694982C>A	uc001tae.3	+	4	714	c.710C>A	c.(709-711)ACT>AAT	p.T237N		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	237					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCTGTGGTTACTTCATGCATG	0.408		NaN											1	0	1.04594e-18	0.00623	1.15349e-18	30	39				
PAH	5053	broad.mit.edu	37	12	103246694	103246694	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:103246694G>A	uc001tjq.1	-	8	1213	c.741C>T	c.(739-741)GGC>GGT	p.G247G		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	247			G -> V (in PKU; haplotype 4).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGAAAGCAGGCCAGCCACAG	0.537		NaN											0	0	0	0.003163	0	11	18				
FICD	11153	broad.mit.edu	37	12	108912880	108912880	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:108912880A>G	uc001tmx.1	+	3	1151	c.1005A>G	c.(1003-1005)GTA>GTG	p.V335V		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	335	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						AGGAGTTTGTACAGTGGCTCA	0.542		NaN											0	0	0	0.003214	0	43	38				
CIT	11113	broad.mit.edu	37	12	120288005	120288006	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:120288005_120288006GG>TT	uc001txi.1	-	5	541_542	c.488_489CC>AA	c.(487-489)GCC>GAA	p.A163E	CIT_uc001txj.1_Missense_Mutation_p.A163E	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	163	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCCTGAAAGGCATACTGTAA	0.426		NaN											0	0	0	0.004672	0	60	75				
KDM2B	84678	broad.mit.edu	37	12	121947735	121947735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:121947735C>A	uc001uat.2	-	11	1386	c.1282G>T	c.(1282-1284)GAG>TAG	p.E428*	KDM2B_uc001uar.2_Nonsense_Mutation_p.E19*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E397*|KDM2B_uc001uau.2_Nonsense_Mutation_p.E311*|KDM2B_uc001uav.3_Nonsense_Mutation_p.E338*	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	428	Glu-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCCTCGCcctcctcgtccttc	0.562		NaN											1	0	4.14922e-12	0.004007	4.4724e-12	12	34				
BRI3BP	140707	broad.mit.edu	37	12	125497182	125497182	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:125497182G>A	uc001uha.1	+	2	459	c.316G>A	c.(316-318)GTC>ATC	p.V106I		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	106						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGACTTGACGGTAGGTGTAG	0.488		NaN											0	0	0	0.009535	0	25	112				
ATP8A2	51761	broad.mit.edu	37	13	26129158	26129158	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:26129158C>A	uc001uqk.2	+	13	1357	c.1215C>A	c.(1213-1215)GAC>GAA	p.D405E	ATP8A2_uc010tdi.1_Missense_Mutation_p.D365E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.D365E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	365	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TAGGAAATGACACTCCTGCCA	0.408		NaN											1	0	2.74318e-10	0.006214	2.92016e-10	7	22				
KL	9365	broad.mit.edu	37	13	33628356	33628356	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:33628356G>C	uc001uus.2	+	2	1280	c.1272G>C	c.(1270-1272)AAG>AAC	p.K424N	KL_uc001uur.1_Missense_Mutation_p.K117N	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	424	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACCACCAAGAGAGATGATG	0.393		NaN											0	0	0	0.00333	0	22	19				
HTR2A	3356	broad.mit.edu	37	13	47409473	47409473	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:47409473G>A	uc001vbq.2	-	3	1049	c.915C>T	c.(913-915)TCC>TCT	p.S305S	HTR2A_uc001vbr.2_Silent_p.S205S|HTR2A_uc010acr.2_Silent_p.S305S	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	305	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCCTGTGTAGGACCCTGGCT	0.522		NaN											0	0	0	0.001168	0	6	4				
RB1	5925	broad.mit.edu	37	13	49050846	49050846	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:49050846A>T	uc001vcb.2	+	25	2696	c.2530A>T	c.(2530-2532)AAG>TAG	p.K844*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	844	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTTCTGAGAAGTTCCAGAA	0.363		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.001984	0	5	4		Valid		
DCT	1638	broad.mit.edu	37	13	95117984	95117984	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:95117984C>T	uc001vlv.3	-	4	1193	c.766G>A	c.(766-768)GTG>ATG	p.V256M	DCT_uc010afh.2_Missense_Mutation_p.V256M	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	256	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTGTACACACATCACACTCG	0.493		NaN											0	0	0	0.004656	0	20	40				
IPO5	3843	broad.mit.edu	37	13	98641409	98641409	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:98641409A>G	uc001vnf.1	+	4	523	c.458A>G	c.(457-459)CAC>CGC	p.H153R	IPO5_uc001vne.2_Missense_Mutation_p.H171R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.H93R	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	153					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GCTGCCCTTCACATTTTCTGG	0.373		NaN											0	0	0	0.000978	0	10	10				
EFNB2	1948	broad.mit.edu	37	13	107145643	107145643	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:107145643C>T	uc001vqi.2	-	5	772	c.747G>A	c.(745-747)TTG>TTA	p.L249L		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	249	Helical; (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGTACTTCAGCAAGAGGACCA	0.522		NaN											0	0	0	0.00361	0	57	111				
OR4M1	441670	broad.mit.edu	37	14	20249060	20249060	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:20249060C>G	uc010tku.1	+	1	579	c.579C>G	c.(577-579)TTC>TTG	p.F193L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAACACCTTCCCAGAGGAGT	0.478		NaN											0	0	0	0.003755	0	28	82				
SUPT16H	11198	broad.mit.edu	37	14	21834657	21834657	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:21834657G>T	uc001wao.2	-	8	1326	c.987C>A	c.(985-987)GTC>GTA	p.V329V		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	329					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCACGTCCATGACAGCGTTAT	0.348		NaN											1	0	4.7546e-09	0.004007	4.97494e-09	12	85				
EFS	10278	broad.mit.edu	37	14	23826494	23826494	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:23826494T>A	uc001wjo.2	-	6	2235	c.1627A>T	c.(1627-1629)ACA>TCA	p.T543S	EFS_uc001wjp.2_Missense_Mutation_p.T450S|EFS_uc010tnm.1_Missense_Mutation_p.T374S	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	543					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGTTCTGTTACACACTGC	0.612		NaN											0	0	0	0.004289	0	31	101				
DHRS4L1	728635	broad.mit.edu	37	14	24518021	24518021	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:24518021G>C	uc010alc.2	+	8	675	c.675_splice	c.e8+1	p.M225_splice	DHRS4L1_uc010tnu.1_Splice_Site	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4								binding|oxidoreductase activity				0						CAGCAGGATGGTGAGGAAGGG	0.547		NaN											0	0	0	0.00632	0	17	109				
RALGAPA1	253959	broad.mit.edu	37	14	36277976	36277976	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:36277976C>T	uc001wti.2	-	1	457	c.66G>A	c.(64-66)AAG>AAA	p.K22K	RALGAPA1_uc001wtj.2_Silent_p.K22K|RALGAPA1_uc010tpv.1_Silent_p.K22K|RALGAPA1_uc010tpw.1_Silent_p.K22K	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	22					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TCAGTGCGTCCTTCTTGGTGT	0.557		NaN											0	0	0	0.004289	0	28	25				
SSTR1	6751	broad.mit.edu	37	14	38679681	38679681	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:38679681T>C	uc001wul.1	+	3	1704	c.1087T>C	c.(1087-1089)TAC>CAC	p.Y363H	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	363	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GAGCCGTGCCTACAGTGTGGA	0.617		NaN											0	0	0	0.00361	0	118	62				
SYNE2	23224	broad.mit.edu	37	14	64408416	64408416	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:64408416A>G	uc001xgm.2	+	4	375	c.145A>G	c.(145-147)ACT>GCT	p.T49A	SYNE2_uc001xgk.2_Missense_Mutation_p.T49A|SYNE2_uc001xgl.2_Missense_Mutation_p.T49A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	49	CH 1.|Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGCAGCACACTTCTCCCTC	0.373		NaN											0	0	0	0.004482	0	7	42				
C14orf50	145376	broad.mit.edu	37	14	65031546	65031546	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65031546C>T	uc001xhl.1	+	4	356	c.260C>T	c.(259-261)GCT>GTT	p.A87V		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	87										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		GATGGTCCAGCTTCAGACAGG	0.408		NaN											0	0	0	0.00361	0	41	67				
PLEKHG3	26030	broad.mit.edu	37	14	65203599	65203599	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65203599C>G	uc001xho.1	+	13	1643	c.1374C>G	c.(1372-1374)CTC>CTG	p.L458L	PLEKHG3_uc001xhn.1_Silent_p.L402L|PLEKHG3_uc001xhp.2_Silent_p.L458L|PLEKHG3_uc010aqh.1_5'UTR|PLEKHG3_uc001xhq.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	458				QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCAGGCAACTCAACGAGAAAG	0.617		NaN											0	0	0	0.002836	0	27	84				
FUT8	2530	broad.mit.edu	37	14	66028339	66028339	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:66028339A>C	uc001xin.2	+	3	1255	c.58A>C	c.(58-60)ACC>CCC	p.T20P	FUT8_uc001xio.2_Missense_Mutation_p.T20P|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T20P|FUT8_uc001xiq.2_Intron	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	20	Helical; Signal-anchor for type II membrane protein; (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCCTGGGGGACCTTGCTGTT	0.473		NaN											0	0	0	0.00361	0	70	52				
ZFYVE26	23503	broad.mit.edu	37	14	68233024	68233024	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:68233024G>A	uc001xka.2	-	32	6070	c.5931C>T	c.(5929-5931)GAC>GAT	p.D1977D	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.D1977D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1977					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTTCATGATGTCCGTGAGCA	0.587		NaN											0	0	0	0.00361	0	45	128				
HEATR4	399671	broad.mit.edu	37	14	73964942	73964942	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:73964942G>T	uc010tub.1	-	14	2785	c.2463C>A	c.(2461-2463)ATC>ATA	p.I821I	HEATR4_uc010tua.1_Silent_p.I774I	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGGGCTAGGATGCTACGGC	0.537		NaN											1	0	4.65686e-17	0.003755	5.10945e-17	29	22				
ATXN3	4287	broad.mit.edu	37	14	92555135	92555135	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:92555135C>G	uc001yac.3	-	6	483	c.414G>C	c.(412-414)ACG>ACC	p.T138T	ATXN3_uc010aug.2_Silent_p.T123T|ATXN3_uc001yad.3_Silent_p.T83T|ATXN3_uc010auh.2_Silent_p.T72T|ATXN3_uc001yae.3_Silent_p.T40T|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	138	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATTCTGGACCCGTCAAGAGAG	0.318		NaN											0	0	0	0.00361	0	59	43				
BCL11B	64919	broad.mit.edu	37	14	99723962	99723962	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:99723962C>T	uc001yga.2	-	2	540	c.273G>A	c.(271-273)AAG>AAA	p.K91K	BCL11B_uc001ygb.2_Silent_p.K91K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	91						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTCCAGGGCCTTGTCATAGC	0.587		NaN	T	TLX3	T-ALL								0	0	0	0.00361	0	131	84				
RTL1	388015	broad.mit.edu	37	14	101351019	101351019	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:101351019G>A	uc010txj.1	-	1	166	c.107C>T	c.(106-108)ACG>ATG	p.T36M	uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	36										pancreas(1)	1						ACTGCCCGACGTCGCCTCGGT	0.587		NaN											0	0	0	0.00499	0	12	41				
HSP90AA1	3320	broad.mit.edu	37	14	102605682	102605682	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:102605682C>T	uc001ykv.3	-	1	405	c.60G>A	c.(58-60)AGG>AGA	p.R20R	WDR20_uc001yky.1_5'Flank|WDR20_uc001yla.2_5'Flank|WDR20_uc001ykz.2_5'Flank|WDR20_uc001ylb.2_5'Flank|WDR20_uc010txu.1_5'Flank|WDR20_uc001ylc.2_5'Flank|WDR20_uc001yld.2_5'Flank|WDR20_uc001yle.2_5'Flank|WDR20_uc001ylf.2_5'Flank	NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	Error:Variant_position_missing_in_P07900_after_alignment					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	CGGGACAGTCCCTGTCCCGAA	0.706		NaN											0	0	0	0.00333	0	24	11				
FMN1	342184	broad.mit.edu	37	15	33360066	33360066	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:33360066G>A	uc001zhf.3	-	1	20	c.20C>T	c.(19-21)TCT>TTT	p.S7F	FMN1_uc001zhg.2_Missense_Mutation_p.S7F	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:Variant_position_missing_in_Q68DA7_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCATCCAGAGAATTATCAAC	0.468		NaN											0	0	0	0.008291	0	8	26				
ACTC1	70	broad.mit.edu	37	15	35084467	35084467	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:35084467A>G	uc001ziu.1	-	5	875	c.632T>C	c.(631-633)GTC>GCC	p.V211A	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	211					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTCACGGACAATTTCACG	0.468		NaN											0	0	0	0.001855	0	12	8				
MYO5C	55930	broad.mit.edu	37	15	52534274	52534274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:52534274C>A	uc010bff.2	-	20	2664	c.2527G>T	c.(2527-2529)GGA>TGA	p.G843*	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	843	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GCCAGGAATCCTCGGCTGTAG	0.547		NaN											1	0	1.44639e-49	0.00361	1.67251e-49	93	100				
PIGB	9488	broad.mit.edu	37	15	55632964	55632964	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:55632964C>T	uc002act.2	+	8	1317	c.1001C>T	c.(1000-1002)GCA>GTA	p.A334V	PIGB_uc010ugg.1_Missense_Mutation_p.A139V	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	334	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		TGCTATCTAGCACCAAAGAGA	0.378		NaN											0	0	0	0.000602	0	4	5				
MYO1E	4643	broad.mit.edu	37	15	59548521	59548521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:59548521G>A	uc002aga.2	-	4	666	c.294C>T	c.(292-294)AAC>AAT	p.N98N		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	98	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		CAATGATCATGTTTCTGTACA	0.343		NaN											0	0	0	0.001855	0	10	26				
PPCDC	60490	broad.mit.edu	37	15	75336745	75336745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:75336745G>A	uc002azo.2	+	4	363	c.250G>A	c.(250-252)GAC>AAC	p.D84N		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	84					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity				0						GAGCCGCTCTGACCCAGTTCT	0.587		NaN											0	0	0	0.00361	0	44	36				
MTHFS	10588	broad.mit.edu	37	15	80137594	80137594	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80137594C>A	uc002bex.3	-	3	610	c.570G>T	c.(568-570)ATG>ATT	p.M190I	MTHFS_uc002bey.2_RNA	NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	190					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		CATCTACCTTCATGTCGTTTT	0.428		NaN											1	0	1.33987e-11	0.008291	1.44061e-11	9	50				
ARNT2	9915	broad.mit.edu	37	15	80872758	80872758	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80872758A>G	uc002bfr.2	+	16	1786	c.1620A>G	c.(1618-1620)TCA>TCG	p.S540S	ARNT2_uc010unm.1_Silent_p.S529S|ARNT2_uc002bfs.2_Silent_p.S529S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	540					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTAGCTCTTCAGTGGTTCATG	0.512		NaN											0	0	0	0.00632	0	23	92				
SV2B	9899	broad.mit.edu	37	15	91769791	91769791	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:91769791G>T	uc002bqv.2	+	1	689	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	SV2B_uc002bqt.2_Missense_Mutation_p.D100Y|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	100	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACCATCATGGATGAGTGTGG	0.587		NaN											1	0	4.36969e-10	0.001855	4.61723e-10	14	33				
IL32	9235	broad.mit.edu	37	16	3119252	3119252	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3119252C>T	uc002cto.2	+	6	812	c.601C>T	c.(601-603)CTG>TTG	p.L201L	IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L135L|IL32_uc010btb.2_Silent_p.L145L|IL32_uc002ctl.2_Silent_p.L155L|IL32_uc002ctm.2_Silent_p.L155L|IL32_uc002ctn.2_Silent_p.L155L|IL32_uc002cts.3_Silent_p.L155L|IL32_uc002ctp.2_Silent_p.L135L|IL32_uc002ctq.2_Silent_p.L201L|IL32_uc002ctr.2_Silent_p.L135L|IL32_uc002ctt.2_Silent_p.L155L|IL32_uc010uwr.1_Silent_p.L115L|IL32_uc002ctu.2_Silent_p.L146L	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	201					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						CTGCTGCTCTCTGTCAGAGCT	0.592		NaN											0	0	0	0.000978	0	11	62				
CREBBP	1387	broad.mit.edu	37	16	3900861	3900861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3900861C>T	uc002cvv.2	-	2	439	c.235G>A	c.(235-237)GGC>AGC	p.G79S	CREBBP_uc002cvw.2_Missense_Mutation_p.G79S	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	79					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATACTAGAGCCGCTGCCTCCT	0.542		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.002299	0	21	62		Valid		
MYH11	4629	broad.mit.edu	37	16	15818266	15818266	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:15818266G>C	uc002ddy.2	-	31	4224	c.4117C>G	c.(4117-4119)CTC>GTC	p.L1373V	MYH11_uc002ddv.2_Missense_Mutation_p.L1380V|MYH11_uc002ddw.2_Missense_Mutation_p.L1373V|MYH11_uc002ddx.2_Missense_Mutation_p.L1380V|MYH11_uc010bvg.2_Missense_Mutation_p.L1205V|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.L79V|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1373	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GAGTCGGAGAGCTACAAGGAC	0.582		NaN	T	CBFB	AML								0	0	0	0.004007	0	14	45				
RPGRIP1L	23322	broad.mit.edu	37	16	53698905	53698905	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:53698905G>C	uc002ehp.2	-	10	1184	c.1120C>G	c.(1120-1122)CAT>GAT	p.H374D	RPGRIP1L_uc002eho.3_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.H374D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.H374D	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	374	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TGCTCTTCATGGGCAGCACTG	0.438		NaN											0	0	0	0.006122	0	15	17				
GPR56	9289	broad.mit.edu	37	16	57685350	57685350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57685350A>T	uc002emb.2	+	4	595	c.303A>T	c.(301-303)TTA>TTT	p.L101F	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.L101F|GPR56_uc002emf.2_Missense_Mutation_p.L101F|GPR56_uc010vhs.1_Missense_Mutation_p.L101F|GPR56_uc002emd.2_Missense_Mutation_p.L101F|GPR56_uc002eme.2_Missense_Mutation_p.L101F|GPR56_uc010vht.1_Missense_Mutation_p.L106F|GPR56_uc002emg.3_Missense_Mutation_p.L101F|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	101	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CTGGGAGATTACATCTTCTCT	0.602		NaN											0	0	0	0.007413	0	19	60				
GPR97	222487	broad.mit.edu	37	16	57719645	57719645	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57719645C>T	uc002emh.2	+	11	1450	c.1347C>T	c.(1345-1347)GTC>GTT	p.V449V	GPR97_uc010vhv.1_Silent_p.V329V|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.V57V	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	449	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GCATGGTGGTCCTGGCCCTGG	0.592		NaN											0	0	0	0.010504	0	21	80				
KATNB1	10300	broad.mit.edu	37	16	57786831	57786831	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57786831T>C	uc002eml.1	+	10	1220	c.846T>C	c.(844-846)AAT>AAC	p.N282N		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	282	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CCATCTGCAATGACCAGTTGG	0.667		NaN											0	0	0	0.007291	0	21	58				
NDRG4	65009	broad.mit.edu	37	16	58538110	58538110	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:58538110C>T	uc002eno.2	+	3	286	c.180C>T	c.(178-180)ACC>ACT	p.T60T	NDRG4_uc002enk.2_Silent_p.T92T|NDRG4_uc002enm.2_Silent_p.T112T|NDRG4_uc010vif.1_Silent_p.T92T|NDRG4_uc010cdk.2_Silent_p.T78T|NDRG4_uc010vig.1_Silent_p.T90T|NDRG4_uc010vih.1_Silent_p.T5T|NDRG4_uc010vii.1_Silent_p.T78T|NDRG4_uc002enp.2_Silent_p.T60T|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	60					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						AGGAGATCACCAAGCACTTTG	0.572		NaN											0	0	0	0.00874	0	39	179				
CBFB	865	broad.mit.edu	37	16	67116228	67116228	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67116228T>A	uc002era.2	+	5	773	c.512T>A	c.(511-513)CTG>CAG	p.L171Q	CBFB_uc002erb.2_Intron|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	171					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTCACAGCTGCTGGCAGTA	0.428		NaN	T	MYH11	AML								0	0	0	0.00361	0	38	83				
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67876805A>G	uc002euo.2	+	1	593	c.348A>G	c.(346-348)CAA>CAG	p.Q116Q	CENPT_uc002eun.3_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.303		NaN											0	0	0	0.010504	0	20	128				
VPS4A	27183	broad.mit.edu	37	16	69352762	69352762	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:69352762A>G	uc002eww.2	+	5	508	c.380A>G	c.(379-381)AAC>AGC	p.N127S		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	127					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				ATACGGTGGAACGACGTGGCC	0.507		NaN											0	0	0	0.00361	0	72	239				
ZNF23	7571	broad.mit.edu	37	16	71483261	71483261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71483261G>A	uc002faf.2	-	6	1481	c.667C>T	c.(667-669)CCC>TCC	p.P223S	ZNF23_uc002fad.2_Missense_Mutation_p.P165S|ZNF23_uc002fae.2_Missense_Mutation_p.P165S|ZNF23_uc010vmf.1_Missense_Mutation_p.P165S|ZNF23_uc002fag.2_Missense_Mutation_p.P165S|ZNF23_uc002fah.2_Missense_Mutation_p.P223S|ZNF23_uc002fai.2_Missense_Mutation_p.P262S	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CATTTGAAGGGTTTCTCCCCA	0.438		NaN											0	0	0	0.00361	0	40	32				
CHST4	10164	broad.mit.edu	37	16	71571354	71571354	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71571354G>A	uc002fan.2	+	2	955	c.774G>A	c.(772-774)AAG>AAA	p.K258K	CHST4_uc002fao.2_Silent_p.K258K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	258	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGATCTACAAGACCATCCAGT	0.557		NaN									OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978	0	9	63				
PHLPP2	23035	broad.mit.edu	37	16	71706188	71706188	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71706188C>A	uc002fax.2	-	9	1515	c.1509G>T	c.(1507-1509)CTG>CTT	p.L503L	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L503L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	503	LRR 12.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						AGAAAGTGAGCAGGCTGGGTA	0.438		NaN											1	0	2.48551e-13	0.00499	2.69945e-13	11	26				
ASPA	443	broad.mit.edu	37	17	3379514	3379514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:3379514C>G	uc010ckg.2	+	2	152	c.61C>G	c.(61-63)CAT>GAT	p.H21D	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.H21D	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	21		Zinc.	H -> P (in CAND).		aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TGGAGGAACCCATGGGAATGA	0.398		NaN											0	0	0	0.00874	0	34	29				
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7578208T>C	uc002gim.2	-	6	835	c.641A>G	c.(640-642)CAT>CGT	p.H214R	TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	214	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACCACACTATGTCGAAAAGT	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	42	13		Valid		
CHD3	1107	broad.mit.edu	37	17	7788214	7788214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7788214G>C	uc002gjd.2	+	1	92	c.90G>C	c.(88-90)GAG>GAC	p.E30D		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	445	Poly-Glu.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				agggcgacgaggaggaggagg	0.299		NaN											0	0	0	0.004672	0	2	3				
TOP2A	7153	broad.mit.edu	37	17	38556598	38556598	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:38556598T>C	uc002huq.2	-	23	2989	c.2863A>G	c.(2863-2865)ACA>GCA	p.T955A		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	955					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTATAGTCTGTTATGAGAGGA	0.378		NaN											0	0	0	0.001855	0	11	15				
KRT16	3868	broad.mit.edu	37	17	39766722	39766722	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39766722T>C	uc002hxg.3	-	6	1280	c.1141A>G	c.(1141-1143)AGT>GGT	p.S381G	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	381	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				TCCTCCACACTGCCAATCAGT	0.577		NaN											0	0	0	0.00361	0	59	126				
JUP	3728	broad.mit.edu	37	17	39923802	39923802	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39923802G>A	uc002hxq.2	-	5	1015	c.738C>T	c.(736-738)GCC>GCT	p.A246A	JUP_uc010wfs.1_Silent_p.A246A|JUP_uc002hxr.2_Silent_p.A246A|JUP_uc002hxs.2_Silent_p.A246A	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	246	ARM 2.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGTGGTGATGGCATAGAACA	0.637		NaN											0	0	0	0.00333	0	24	85				
DHX8	1659	broad.mit.edu	37	17	41598153	41598153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:41598153A>G	uc002idu.1	+	20	3045	c.2972A>G	c.(2971-2973)AAA>AGA	p.K991R	DHX8_uc010wig.1_Missense_Mutation_p.K991R	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	991						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCTATGCAAAATGCTCATC	0.478		NaN									OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	19	14				
ITGA2B	3674	broad.mit.edu	37	17	42455070	42455071	+	Missense_Mutation	DNP	GC	GC	TA	rs146445219		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:42455070_42455071GC>TA	uc002igt.1	-	21	2214_2215	c.2182_2183GC>TA	c.(2182-2184)GCC>TAC	p.A728Y	ITGA2B_uc002igu.1_Missense_Mutation_p.A209Y	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	728	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCTCACCTGGGCGTTCTTCTTC	0.47		NaN											0	0	0	0.004672	0	12	49				
AKAP1	8165	broad.mit.edu	37	17	55195741	55195741	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:55195741G>T	uc002iux.2	+	9	2732	c.2501_splice	c.e9-1	p.D834_splice	AKAP1_uc010wnl.1_Splice_Site_p.D834_splice|AKAP1_uc010dcm.2_Splice_Site_p.D834_splice	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor						blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TCCTCCTGAAGACGATGACCA	0.532		NaN											1	0	5.71845e-15	0.005524	6.2582e-15	32	37				
LPO	4025	broad.mit.edu	37	17	56327935	56327935	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56327935C>G	uc002ivt.2	+	7	1049	c.733C>G	c.(733-735)CAG>GAG	p.Q245E	LPO_uc010dco.2_Missense_Mutation_p.Q245E|LPO_uc010wnr.1_Missense_Mutation_p.Q162E|LPO_uc010wns.1_Missense_Mutation_p.Q186E|LPO_uc010dcp.2_Missense_Mutation_p.Q162E|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	245					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CTCCAAAGCCCAGTGTGATGA	0.557		NaN											0	0	0	0.002522	0	37	27				
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56780655T>C	uc002iwu.2	+	4	712	c.670T>C	c.(670-672)TAT>CAT	p.Y224H	RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	224					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				0	0	0	0.001368	0	10	27				
RNFT1	51136	broad.mit.edu	37	17	58040588	58040588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:58040588C>T	uc002iya.2	-	2	207	c.114G>A	c.(112-114)ATG>ATA	p.M38I	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.M38I|RNFT1_uc002iyd.3_Missense_Mutation_p.M38I	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	38						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GATTGGCTTGCATGGCCCTTA	0.453		NaN											0	0	0	0.001368	0	11	40				
SCN4A	6329	broad.mit.edu	37	17	62021113	62021113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62021113C>T	uc002jds.1	-	22	4087	c.4010G>A	c.(4009-4011)CGG>CAG	p.R1337Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1337					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TACCTGGGGCCGGGGAATTGG	0.353		NaN											0	0	0	0.001168	0	4	13				
DDX5	1655	broad.mit.edu	37	17	62499626	62499626	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62499626A>C	uc002jek.2	-	6	818	c.571T>G	c.(571-573)TGT>GGT	p.C191G	DDX5_uc010deh.2_Missense_Mutation_p.C191G|DDX5_uc002jej.2_Missense_Mutation_p.C86G|DDX5_uc010wqa.1_Missense_Mutation_p.C112G|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	191	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATGCTCTACAATATTCAGCA	0.463		NaN	T	ETV4	prostate								0	0	0	0.00278	0	18	45				
PSMD12	5718	broad.mit.edu	37	17	65337149	65337149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:65337149G>A	uc002jfy.2	-	11	1267	c.1181C>T	c.(1180-1182)TCA>TTA	p.S394L	PSMD12_uc002jga.2_Missense_Mutation_p.S374L|PSMD12_uc002jfz.2_Missense_Mutation_p.S335L	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	394	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TACTAGATTTGAGAGAAAGGC	0.338		NaN											0	0	0	0.006214	0	7	18				
KCTD2	23510	broad.mit.edu	37	17	73043506	73043506	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73043506C>T	uc002jmp.2	+	1	228	c.161C>T	c.(160-162)CCG>CTG	p.P54L	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_Intron	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	54				P -> R (in Ref. 1; BAA11493).		voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					gtcgcgcagccgctggagccg	0.149		NaN											0	0	0	0.00308	0	8	5				
LLGL2	3993	broad.mit.edu	37	17	73569202	73569202	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73569202C>T	uc002joh.2	+	20	2722	c.2568C>T	c.(2566-2568)GCC>GCT	p.A856A	LLGL2_uc002joi.2_Silent_p.A856A|LLGL2_uc010dgg.1_Silent_p.A856A|LLGL2_uc002joj.2_Silent_p.A845A|LLGL2_uc010wsd.1_Silent_p.A483A	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	856	WD 13.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTCGAGCCGAGGACTACG	0.657		NaN											0	0	0	0.00361	0	64	82				
QRICH2	84074	broad.mit.edu	37	17	74283886	74283886	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74283886G>A	uc002jrd.1	-	6	3573	c.3393C>T	c.(3391-3393)GTC>GTT	p.V1131V	QRICH2_uc010wsz.1_Silent_p.V1057V|QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1131	Potential.						protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						TTTACCTGAGGACACCCAGCT	0.557		NaN											0	0	0	0.00245	0	12	49				
MFSD11	79157	broad.mit.edu	37	17	74737129	74737129	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74737129C>G	uc002jta.2	+	4	1216	c.243C>G	c.(241-243)GCC>GCG	p.A81A	MFSD11_uc002jtb.2_Silent_p.A81A|MFSD11_uc010dha.2_Silent_p.A81A|MFSD11_uc002jtc.2_Silent_p.A81A|MFSD11_uc002jtd.3_Silent_p.A81A|MFSD11_uc010dhb.2_Silent_p.A81A|MFSD11_uc002jte.2_Silent_p.A81A	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	81	Helical; (Potential).					integral to membrane				ovary(1)	1						CTATGTTTGCCAGTGGTTTAT	0.363		NaN											0	0	0	0.005443	0	26	41				
NPLOC4	55666	broad.mit.edu	37	17	79580442	79580442	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:79580442G>A	uc002kat.3	-	4	470	c.288C>T	c.(286-288)GGC>GGT	p.G96G	NPLOC4_uc002kau.3_Silent_p.G96G|NPLOC4_uc010wur.1_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	96					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGACTTTGAAGCCCGGTGGAA	0.517		NaN											0	0	0	0.004672	0	3	26				
RBBP8	5932	broad.mit.edu	37	18	20581688	20581688	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:20581688A>G	uc002ktw.2	+	15	2614	c.2283A>G	c.(2281-2283)CTA>CTG	p.L761L	RBBP8_uc002kty.2_Silent_p.L761L|RBBP8_uc002ktz.2_Silent_p.L761L|RBBP8_uc002kua.2_Silent_p.L766L|RBBP8_uc010xap.1_Silent_p.L99L	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	761					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAAAGAAACTACACAGTAAGA	0.373		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.00308	0	8	16				
LAMA3	3909	broad.mit.edu	37	18	21485588	21485588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:21485588G>T	uc002kuq.2	+	52	6804	c.6718G>T	c.(6718-6720)GAA>TAA	p.E2240*	LAMA3_uc002kur.2_Nonsense_Mutation_p.E2184*|LAMA3_uc002kus.3_Nonsense_Mutation_p.E631*|LAMA3_uc002kut.3_Nonsense_Mutation_p.E575*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2240	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTAAAGCAAGGTATTAGGGG	0.438		NaN											1	0	0.00909568	0.009096	0.00924656	3	19				
CDH2	1000	broad.mit.edu	37	18	25532201	25532201	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:25532201A>C	uc002kwg.2	-	16	3096	c.2637T>G	c.(2635-2637)GGT>GGG	p.G879G	CDH2_uc010xbn.1_Silent_p.G848G	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	879	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CCTGCTCACCACCACTACTTG	0.507		NaN									OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004007	0	14	68				
MAPRE2	10982	broad.mit.edu	37	18	32621508	32621508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:32621508C>T	uc002kyg.2	+	1	185	c.5C>T	c.(4-6)CCT>CTT	p.P2L	MAPRE2_uc010xcb.1_Intron|MAPRE2_uc010xcc.1_Intron|MAPRE2_uc002kyf.2_Missense_Mutation_p.P2L|MAPRE2_uc002kyh.2_5'UTR|MAPRE2_uc010xcd.1_5'Flank	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	2					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						GCGCCAATGCCTGGGCCGACC	0.612		NaN											0	0	0	0.00361	0	75	83				
PIK3C3	5289	broad.mit.edu	37	18	39637870	39637870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:39637870G>A	uc002lap.2	+	22	2345	c.2287G>A	c.(2287-2289)GGA>AGA	p.G763R	PIK3C3_uc010xcl.1_Missense_Mutation_p.G700R|PIK3C3_uc002laq.2_Missense_Mutation_p.G248R	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	763	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						CATAGACTTTGGATATATTTT	0.418		NaN								TSP Lung(28;0.18)			0	0	0	0.000978	0	9	14				
MAPK4	5596	broad.mit.edu	37	18	48255680	48255680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:48255680G>A	uc002lev.2	+	6	2220	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	MAPK4_uc010xdm.1_Missense_Mutation_p.R196H|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	407					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCTCCGAGCGCTTCCTAGAG	0.692		NaN											0	0	0	0.00499	0	14	9				
APC2	10297	broad.mit.edu	37	19	1462114	1462114	+	Silent	SNP	C	C	T	rs142142534		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1462114C>T	uc002lsr.1	+	14	1999	c.1791C>T	c.(1789-1791)ATC>ATT	p.I597I	APC2_uc002lss.1_Silent_p.I179I|APC2_uc002lst.1_Silent_p.I597I|APC2_uc002lsu.1_Silent_p.I596I|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	597	ARM 4.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCATCATCGAGAGCGGCG	0.667		NaN											0	0	0	0.00361	0	37	128				
ATP8B3	148229	broad.mit.edu	37	19	1785276	1785276	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1785276G>C	uc002ltw.2	-	27	3648	c.3414C>G	c.(3412-3414)TAC>TAG	p.Y1138*	ATP8B3_uc002ltv.2_Nonsense_Mutation_p.Y1101*|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1138	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGGTCCAGTACTTGATGA	0.607		NaN											0	0	0	0.001168	0	4	27				
FZR1	51343	broad.mit.edu	37	19	3534500	3534500	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:3534500C>T	uc010dtk.2	+	12	1463	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C	FZR1_uc002lxt.2_Missense_Mutation_p.R477C|FZR1_uc002lxv.2_Missense_Mutation_p.R388C	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	477	WD 7.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCAAAACCCGTTCGACAAA	0.627		NaN											0	0	0	0.009096	0	4	12				
ZBTB7A	51341	broad.mit.edu	37	19	4047820	4047820	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:4047820C>T	uc002lzh.2	-	3	1760	c.1685G>A	c.(1684-1686)GGT>GAT	p.G562D	ZBTB7A_uc002lzi.2_Missense_Mutation_p.G562D	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	562	Poly-Gly.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCCTCCACCGGCGCCCGC	0.632		NaN											0	0	0	0.001882	0	16	69				
S1PR5	53637	broad.mit.edu	37	19	10625203	10625203	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:10625203G>A	uc002mot.1	-	2	542	c.485C>T	c.(484-486)TCG>TTG	p.S162L	S1PR5_uc002mou.1_Missense_Mutation_p.S162L	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	162	Helical; Name=4; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						GAGGAGCAGCGACACGCCCCA	0.726		NaN											0	0	0	0.000978	0	9	9				
ZNF136	7695	broad.mit.edu	37	19	12298627	12298627	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12298627T>C	uc002mti.2	+	4	1534	c.1434T>C	c.(1432-1434)TGT>TGC	p.C478C	ZNF136_uc010xmh.1_Silent_p.C412C	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	478	C2H2-type 13.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CCTTTGAATGTAAGCGATGTG	0.418		NaN											0	0	0	0.008291	0	11	9				
JUNB	3726	broad.mit.edu	37	19	12903008	12903008	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903008A>C	uc002mvc.2	+	1	699	c.423A>C	c.(421-423)AAA>AAC	p.K141N	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	141						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						GCTTTGTCAAAGCCCTGGACG	0.567		NaN											0	0	0	0.001168	0	6	13				
JUNB	3726	broad.mit.edu	37	19	12903565	12903565	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903565A>G	uc002mvc.2	+	1	1256	c.980A>G	c.(979-981)AAG>AGG	p.K327R	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	327						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						CTCAAACAGAAGGTCATGACC	0.652		NaN											0	0	0	0.004656	0	22	27				
CPAMD8	27151	broad.mit.edu	37	19	17012070	17012070	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:17012070C>G	uc002nfb.2	-	36	4896	c.4864G>C	c.(4864-4866)GAG>CAG	p.E1622Q	CPAMD8_uc002nfd.1_Missense_Mutation_p.E87Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1575						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						AGGGGCACCTCCAGGACAGCC	0.607		NaN											0	0	0	0.004656	0	21	25				
ZNF737	100129842	broad.mit.edu	37	19	20728292	20728292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:20728292G>C	uc002npa.2	-	4	897	c.717C>G	c.(715-717)AGC>AGG	p.S239R		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	239					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ATGAAAACCGGCTAAAGGCTT	0.428		NaN											0	0	0	0.000602	0	5	7				
TSHZ3	57616	broad.mit.edu	37	19	31769651	31769651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:31769651C>T	uc002nsy.3	-	2	1113	c.1048G>A	c.(1048-1050)GAT>AAT	p.D350N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	350					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TGAAGTGCATCGTTGGTGTCT	0.567		NaN											0	0	0	0.009718	0	36	117				
ZFP82	284406	broad.mit.edu	37	19	36883875	36883875	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:36883875C>T	uc002ody.1	-	5	1602	c.1367G>A	c.(1366-1368)GGC>GAC	p.G456D		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	456	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						AAAGGCCTTGCCACATTCCTT	0.418		NaN											0	0	0	0.001855	0	14	9				
AXL	558	broad.mit.edu	37	19	41765721	41765721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41765721A>G	uc010ehj.2	+	20	2787	c.2597A>G	c.(2596-2598)TAT>TGT	p.Y866C	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.Y857C|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	866	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCTGGACGCTATGTCCTCTGC	0.652		NaN											0	0	0	0.00361	0	61	59				
HNRNPUL1	11100	broad.mit.edu	37	19	41808694	41808694	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41808694C>T	uc002oqb.3	+	12	2101	c.1812C>T	c.(1810-1812)CCC>CCT	p.P604P	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P504P|HNRNPUL1_uc002oqa.3_Silent_p.P504P|HNRNPUL1_uc010ehm.2_Silent_p.P604P|HNRNPUL1_uc002oqc.3_Silent_p.P490P|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.P504P|HNRNPUL1_uc010ehn.2_Silent_p.P504P|HNRNPUL1_uc010eho.2_Silent_p.P504P|HNRNPUL1_uc010xvy.1_Silent_p.P504P|HNRNPUL1_uc010ehp.2_Silent_p.P460P|HNRNPUL1_uc002oqf.3_Silent_p.P128P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	604	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CTGGGCCACCCCCTGAAAAGC	0.627		NaN											0	0	0	0.008871	0	18	55				
ARHGEF1	9138	broad.mit.edu	37	19	42402702	42402702	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:42402702C>G	uc002orx.2	+	14	1342	c.1233C>G	c.(1231-1233)CCC>CCG	p.P411P	ARHGEF1_uc002ory.2_Silent_p.P378P|ARHGEF1_uc002orz.2_Silent_p.P249P|ARHGEF1_uc002osa.2_Silent_p.P426P|ARHGEF1_uc002osb.2_Silent_p.P393P|ARHGEF1_uc002osc.2_Silent_p.P165P|ARHGEF1_uc002osd.2_Silent_p.P70P	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	411					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACAGCCTGCCCAAGAGCCAGG	0.652		NaN											0	0	0	0.004482	0	6	16				
ZNF233	353355	broad.mit.edu	37	19	44777421	44777421	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:44777421T>C	uc002oyz.1	+	5	735	c.608T>C	c.(607-609)GTA>GCA	p.V203A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.V18A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				CAAATTGATGTAAAAAATAAG	0.378		NaN											0	0	0	0.00308	0	7	9				
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:45867687T>C	uc002pbj.2	-	8	760	c.713A>G	c.(712-714)AAC>AGC	p.N238S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.003163	0	15	39		Valid		
DMWD	1762	broad.mit.edu	37	19	46290118	46290118	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:46290118G>T	uc002pdj.1	-	3	682	c.636C>A	c.(634-636)GAC>GAA	p.D212E	DMWD_uc002pdk.1_Missense_Mutation_p.D212E|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	212	WD 1.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTTGGTCTTGTCGATCAACC	0.582		NaN											1	0	1.5842e-08	0.001855	1.65358e-08	14	32				
STRN4	29888	broad.mit.edu	37	19	47226204	47226204	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47226204T>C	uc002pfl.2	-	14	1802	c.1769A>G	c.(1768-1770)CAC>CGC	p.H590R	STRN4_uc002pfm.2_Missense_Mutation_p.H597R|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	590	WD 4.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGGACCCCGTGCTCTGAGGG	0.662		NaN											0	0	0	0.009535	0	27	67				
GPR77	27202	broad.mit.edu	37	19	47844239	47844239	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47844239G>T	uc010ela.1	+	2	401	c.183G>T	c.(181-183)GGG>GGT	p.G61G	GPR77_uc002pgk.1_Silent_p.G61G	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	61	Helical; Name=1; (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGGTGGCTGGGAAGGTGGCCC	0.687		NaN											1	0	6.07207e-39	0.00361	6.94645e-39	76	258				
DHX34	9704	broad.mit.edu	37	19	47879304	47879304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47879304C>T	uc010xyn.1	+	11	2772	c.2431C>T	c.(2431-2433)CAG>TAG	p.Q811*	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	811						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGTACCCACAGCTGGCCGT	0.607		NaN											0	0	0	0.006999	0	31	97				
MAMSTR	284358	broad.mit.edu	37	19	49217717	49217717	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49217717T>A	uc002pkg.2	-	7	691	c.629A>T	c.(628-630)GAG>GTG	p.E210V	MAMSTR_uc002pkf.2_Missense_Mutation_p.E107V	NM_001130915	NP_001124387	Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			ovary(1)	1						CTTcggccgctcgcggggcgg	0.617		NaN											0	0	0	0.00308	0	8	4				
RASIP1	54922	broad.mit.edu	37	19	49238543	49238543	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49238543G>A	uc002pki.2	-	4	1286	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	363					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGAAGTCCCCGGGGTCTGCAG	0.672		NaN											0	0	0	0.010504	0	19	60				
HSD17B14	51171	broad.mit.edu	37	19	49316713	49316713	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49316713C>T	uc002pkv.1	-	8	905	c.639G>A	c.(637-639)CAG>CAA	p.Q213Q	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	213					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCACTTCTACCTGGGCCAGCA	0.607		NaN											0	0	0	0.004482	0	6	3				
FUZ	80199	broad.mit.edu	37	19	50315535	50315535	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50315535T>C	uc002ppq.1	-	3	396	c.291A>G	c.(289-291)AGA>AGG	p.R97R	FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Silent_p.R47R|FUZ_uc010ybd.1_Silent_p.R97R	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	97					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TTTGGAGTAGTCTCTCCAGCC	0.333		NaN											0	0	0	0.004482	0	8	16				
MYH14	79784	broad.mit.edu	37	19	50735294	50735294	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50735294C>T	uc002prr.1	+	9	1104	c.1057C>T	c.(1057-1059)CGG>TGG	p.R353W	MYH14_uc010enu.1_Missense_Mutation_p.R361W|MYH14_uc002prq.1_Missense_Mutation_p.R361W	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	353	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGTCGCTGCGGGTCCTGGG	0.662		NaN											0	0	0	0.010504	0	15	56				
ZNF616	90317	broad.mit.edu	37	19	52619312	52619312	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:52619312C>T	uc002pym.2	-	4	1388	c.1105G>A	c.(1105-1107)GTA>ATA	p.V369I	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	369	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGGTGACATACAAGATTTGAT	0.418		NaN											0	0	0	0.00361	0	47	58				
ZNF28	7576	broad.mit.edu	37	19	53311303	53311303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:53311303G>T	uc002qad.2	-	3	219	c.99C>A	c.(97-99)TAC>TAA	p.Y33*	ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCACATCCCTGTAAAGAGTCC	0.483		NaN											1	0	5.18039e-06	0.00308	5.32947e-06	7	77				
ZNF548	147694	broad.mit.edu	37	19	57910511	57910511	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57910511T>C	uc002qom.2	+	3	1106	c.856T>C	c.(856-858)TGT>CGT	p.C286R	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C289R	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	286	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCAACACATGTGGGAAATT	0.433		NaN											0	0	0	0.008291	0	9	20				
ZNF749	388567	broad.mit.edu	37	19	57956154	57956154	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57956154C>G	uc002qoq.2	+	3	1892	c.1638C>G	c.(1636-1638)CAC>CAG	p.H546Q	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCATTCAACACAAGAGGATTG	0.463		NaN											0	0	0	0.008291	0	8	22				
ZNF329	79673	broad.mit.edu	37	19	58639356	58639356	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:58639356A>T	uc002qrn.2	-	4	1752	c.1515T>A	c.(1513-1515)CAT>CAA	p.H505Q	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	505	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCTCCCTGCTATGGAGTCTCT	0.512		NaN											0	0	0	0.00361	0	64	83				
ACP1	52	broad.mit.edu	37	2	275176	275176	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:275176C>T	uc002qwg.2	+	4	364	c.268C>T	c.(268-270)CTA>TTA	p.L90L	ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Silent_p.L90L	NM_007099	NP_009030	P24666	PPAC_HUMAN	acid phosphatase 1, soluble isoform b	90						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			skin(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TGATTATATACTATGTATGGA	0.343		NaN											0	0	0	0.009096	0	4	19				
RPS7	6201	broad.mit.edu	37	2	3623453	3623453	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:3623453G>A	uc002qxw.2	+	3	228	c.122G>A	c.(121-123)AGG>AAG	p.R41K	RPS7_uc002qxx.2_Missense_Mutation_p.R41K|RPS7_uc002qxy.2_5'Flank	NM_001011	NP_001002	P62081	RS7_HUMAN	ribosomal protein S7	41					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCTCAGCTCAGGGAGCTGAAT	0.637		NaN											0	0	0	0.006214	0	7	17				
GREB1	9687	broad.mit.edu	37	2	11758611	11758611	+	Missense_Mutation	SNP	C	C	T	rs71446422		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:11758611C>T	uc002rbk.1	+	22	3910	c.3610C>T	c.(3610-3612)CTC>TTC	p.L1204F	GREB1_uc002rbp.1_Missense_Mutation_p.L202F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1204	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGACTGTAGCCTCAGGACCGG	0.701		NaN											0	0	0	0.001882	0	20	19				
FAM84A	151354	broad.mit.edu	37	2	14774804	14774804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:14774804C>T	uc002rbz.1	+	2	943	c.701C>T	c.(700-702)GCA>GTA	p.A234V	FAM84A_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	234										pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GAGGTGCCGGCAGGCACGCAG	0.642		NaN											0	0	0	0.001855	0	11	5				
FBXO11	80204	broad.mit.edu	37	2	48061799	48061799	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48061799C>T	uc010fbl.2	-	7	715	c.601G>A	c.(601-603)GAT>AAT	p.D201N	FBXO11_uc002rwe.2_Missense_Mutation_p.D201N|FBXO11_uc002rwf.2_Missense_Mutation_p.D201N|FBXO11_uc002rwg.1_Missense_Mutation_p.D201N|FBXO11_uc010fbk.2_5'Flank	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	285					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAAGTCCATCAAAATGAGCC	0.328		NaN											0	0	0	0.008291	0	7	14				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809237	48809237	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48809237A>G	uc010yol.1	+	1	1512	c.1465A>G	c.(1465-1467)AAG>GAG	p.K489E	STON1_uc002rwo.3_Missense_Mutation_p.K489E|STON1_uc010fbm.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.K489E|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.K489E	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	489					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATTTTCATAAGTGTGTGAA	0.378		NaN											0	0	0	0.004007	0	17	14				
GPR75	10936	broad.mit.edu	37	2	54080390	54080390	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:54080390G>T	uc002rxo.3	-	2	1775	c.1504C>A	c.(1504-1506)CCA>ACA	p.P502T	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	502	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGTTTACTGGCTGTAAGTTA	0.458		NaN											1	0	2.61193e-14	0.009535	2.84396e-14	29	93				
SLC1A4	6509	broad.mit.edu	37	2	65248205	65248205	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:65248205C>T	uc010yqa.1	+	8	1846	c.1524C>T	c.(1522-1524)CCC>CCT	p.P508P	SLC1A4_uc010ypy.1_Silent_p.P288P|SLC1A4_uc010ypz.1_Silent_p.P210P|SLC1A4_uc010fcv.2_3'UTR|SLC1A4_uc002sdh.2_Silent_p.P288P	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	508					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	AGACATCGCCCCTGGTGACAC	0.587		NaN											0	0	0	0.00333	0	21	105				
LOXL3	84695	broad.mit.edu	37	2	74762468	74762468	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:74762468G>C	uc002smp.1	-	9	1602	c.1530C>G	c.(1528-1530)ACC>ACG	p.T510T	LOXL3_uc002smo.1_Silent_p.T149T|LOXL3_uc010ffm.1_Silent_p.T454T|LOXL3_uc002smq.1_Silent_p.T365T|LOXL3_uc010ffn.1_Silent_p.T365T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	510	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						TCCTCTTGCAGGTGATGTGGG	0.582		NaN											0	0	0	0.00874	0	38	38				
RNF181	51255	broad.mit.edu	37	2	85823723	85823723	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:85823723G>T	uc002spv.1	+	2	218	c.168G>T	c.(166-168)AAG>AAT	p.K56N		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	ring finger protein 181	56							ligase activity|zinc ion binding				0						CAGCTGCCAAGACTGTGGTTG	0.537		NaN											1	0	2.98393e-07	0.00278	3.09953e-07	20	28				
AFF3	3899	broad.mit.edu	37	2	100343579	100343579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:100343579C>T	uc002tag.2	-	10	1287	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T	AFF3_uc002taf.2_Missense_Mutation_p.A376T|AFF3_uc010fiq.1_Missense_Mutation_p.A351T|AFF3_uc010yvr.1_Missense_Mutation_p.A505T|AFF3_uc002tah.1_Missense_Mutation_p.A376T|AFF3_uc010fir.1_Missense_Mutation_p.A428T	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	351					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TCTGGCTCTGCATCACCTTTC	0.353		NaN											0	0	0	0.000978	0	10	11				
IL18RAP	8807	broad.mit.edu	37	2	103068609	103068609	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:103068609A>G	uc002tbx.2	+	12	2252	c.1768A>G	c.(1768-1770)ACT>GCT	p.T590A	IL18RAP_uc010fiz.2_Missense_Mutation_p.T448A	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	590	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						AACAGAAACCACTGGGAGGAG	0.512		NaN											0	0	0	0.00245	0	11	33				
RGPD3	653489	broad.mit.edu	37	2	107073498	107073498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:107073498C>T	uc010ywi.1	-	4	391	c.334G>A	c.(334-336)GGA>AGA	p.G112R		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					intracellular transport		binding			ovary(1)	1						TCTGCTCTTCCATCAGTAACA	0.343		NaN											0	0	0	0.00333	0	19	29				
NCKAP5	344148	broad.mit.edu	37	2	133540952	133540952	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:133540952A>G	uc002ttp.2	-	14	3806	c.3432T>C	c.(3430-3432)ACT>ACC	p.T1144T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1144							protein binding				0						CTGGAAGGCGAGTTTTCAGTC	0.483		NaN											0	0	0	0.003163	0	13	49				
R3HDM1	23518	broad.mit.edu	37	2	136409597	136409597	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:136409597C>T	uc002tuo.2	+	17	2288	c.1918C>T	c.(1918-1920)CCA>TCA	p.P640S	R3HDM1_uc010fni.2_Missense_Mutation_p.P639S|R3HDM1_uc002tup.2_Missense_Mutation_p.P585S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P388S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	640							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GCAGCCATCACCACAGGTATA	0.423		NaN											0	0	0	0.005524	0	34	33				
ARL6IP6	151188	broad.mit.edu	37	2	153575447	153575447	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:153575447G>A	uc002tyn.2	+	1	1025	c.309G>A	c.(307-309)CGG>CGA	p.R103R	ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	103						integral to membrane					0						AGCCTCGGCGGTGGCCGGTCC	0.632		NaN											0	0	0	0.002445	0	25	35				
PKP4	8502	broad.mit.edu	37	2	159517954	159517954	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:159517954G>A	uc002tzv.2	+	13	2463	c.2203G>A	c.(2203-2205)GAC>AAC	p.D735N	PKP4_uc002tzt.1_Missense_Mutation_p.D587N|PKP4_uc002tzu.2_Missense_Mutation_p.D735N|PKP4_uc002tzw.2_Missense_Mutation_p.D735N|PKP4_uc002tzx.2_Missense_Mutation_p.D392N|PKP4_uc002tzy.1_Missense_Mutation_p.D393N|PKP4_uc002uaa.2_Missense_Mutation_p.D587N|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	735	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						ATCCGATTACGACAGCAAGGT	0.572		NaN								HNSCC(62;0.18)			0	0	0	0.004878	0	28	140				
PLA2R1	22925	broad.mit.edu	37	2	160876633	160876633	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:160876633A>G	uc002ube.1	-	8	1643	c.1436T>C	c.(1435-1437)GTC>GCC	p.V479A	PLA2R1_uc010zcp.1_Missense_Mutation_p.V479A|PLA2R1_uc002ubf.2_Missense_Mutation_p.V479A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	479	Extracellular (Potential).|C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						CTCTGCTGAGACACACAGCTG	0.264		NaN											0	0	0	0.00245	0	12	20				
SCN2A	6326	broad.mit.edu	37	2	166231239	166231239	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:166231239T>G	uc002udc.2	+	22	4307	c.4017T>G	c.(4015-4017)AAT>AAG	p.N1339K	SCN2A_uc002udd.2_Missense_Mutation_p.N1339K|SCN2A_uc002ude.2_Missense_Mutation_p.N1339K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1339	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CTATCATGAATGTACTTCTGG	0.363		NaN											0	0	0	0.004007	0	13	18				
SCN9A	6335	broad.mit.edu	37	2	167056069	167056069	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:167056069T>C	uc010fpl.2	-	27	5388	c.5047A>G	c.(5047-5049)ATT>GTT	p.I1683V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1694	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGGTTGTAATTTGGAACAGG	0.408		NaN											0	0	0	0.00874	0	34	95				
XIRP2	129446	broad.mit.edu	37	2	168100155	168100156	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:168100155_168100156GC>AT	uc002udx.2	+	8	2271_2272	c.2253_2254GC>AT	c.(2251-2256)ATGCTG>ATATTG	p.M751I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.M576I|XIRP2_uc010fpq.2_Missense_Mutation_p.M529I|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	576					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CGGGCCAAATGCTGGAAATTAA	0.366		NaN											0	0	0	0.004672	0	4	24				
TTN	7273	broad.mit.edu	37	2	179472309	179472309	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:179472309A>C	uc010zfg.1	-	226	45626	c.45402T>G	c.(45400-45402)CCT>CCG	p.P15134P	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P8829P|TTN_uc010zfi.1_Silent_p.P8762P|TTN_uc010zfj.1_Silent_p.P8637P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16061							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTTTGTAGGTACAGGGC	0.453		NaN											0	0	0	0.00361	0	41	134				
ZC3H15	55854	broad.mit.edu	37	2	187371546	187371546	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187371546A>G	uc002upo.2	+	9	1298	c.1073A>G	c.(1072-1074)TAT>TGT	p.Y358C		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	358						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTCAGCACATATACTTCAGAT	0.313		NaN											0	0	0	0.00245	0	11	33				
ITGAV	3685	broad.mit.edu	37	2	187533614	187533614	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187533614T>C	uc002upq.2	+	25	2835	c.2559T>C	c.(2557-2559)ACT>ACC	p.T853T	ITGAV_uc010frs.2_Silent_p.T817T|ITGAV_uc010zfv.1_Silent_p.T807T	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	853	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGAACTGCACTTCAGATATGG	0.343		NaN											0	0	0	0.00333	0	19	27				
MYO1B	4430	broad.mit.edu	37	2	192194756	192194756	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:192194756G>T	uc010fsg.2	+	4	601	c.346_splice	c.e4+1	p.E116_splice	MYO1B_uc002usq.2_Splice_Site_p.E116_splice|MYO1B_uc002usr.2_Splice_Site_p.E116_splice|MYO1B_uc002uss.1_Splice_Site_p.E116_splice	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAAAAACAGGTAAGGCTCCT	0.483		NaN											1	0	5.03518e-11	0.007413	5.37337e-11	19	25				
SLC39A10	57181	broad.mit.edu	37	2	196581642	196581642	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:196581642G>A	uc002utg.3	+	7	2192	c.1978G>A	c.(1978-1980)GAT>AAT	p.D660N	SLC39A10_uc002uth.3_Missense_Mutation_p.D660N|SLC39A10_uc010zgp.1_Missense_Mutation_p.D210N	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	660					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTGGATCCGATCTGAAAGA	0.493		NaN											0	0	0	0.004007	0	15	70				
ALS2	57679	broad.mit.edu	37	2	202593268	202593268	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202593268G>A	uc002uyo.2	-	15	3164	c.2808C>T	c.(2806-2808)TTC>TTT	p.F936F	ALS2_uc002uyp.3_Silent_p.F936F|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	936	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TAAAGAGAATGAACCAATTCA	0.488		NaN											0	0	0	0.001168	0	6	47				
FZD7	8324	broad.mit.edu	37	2	202899544	202899544	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202899544G>C	uc002uyw.1	+	1	235	c.174G>C	c.(172-174)ACG>ACC	p.T58T		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	58	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						CGCTGTGCACGGACATCGCCT	0.672		NaN											0	0	0	0.00361	0	61	188				
PTPRN	5798	broad.mit.edu	37	2	220166979	220166979	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:220166979T>C	uc002vkz.2	-	6	963	c.874A>G	c.(874-876)AGG>GGG	p.R292G	PTPRN_uc010zlc.1_Missense_Mutation_p.R202G|PTPRN_uc002vla.2_Missense_Mutation_p.R292G	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	292	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTTGGCACCCTGGCCCTGCTG	0.632		NaN											0	0	0	0.00623	0	37	16				
COL4A3	1285	broad.mit.edu	37	2	228113226	228113226	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:228113226C>T	uc002vom.1	+	9	698	c.536C>T	c.(535-537)CCA>CTA	p.P179L	COL4A3_uc002von.1_Missense_Mutation_p.P179L|COL4A3_uc002voo.1_Missense_Mutation_p.P179L|COL4A3_uc002vop.1_Missense_Mutation_p.P179L|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	179	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGGGCTCCAGGACCCCAG	0.333		NaN											0	0	0	0.003163	0	12	6				
ALPI	248	broad.mit.edu	37	2	233322746	233322746	+	Nonsense_Mutation	SNP	C	C	T	rs147248868		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:233322746C>T	uc002vst.3	+	8	972	c.895C>T	c.(895-897)CGA>TGA	p.R299*	ALPI_uc002vsu.3_Nonsense_Mutation_p.R210*	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	299					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGAGATCCACCGAGACCCCAC	0.617		NaN											0	0	0	0.00361	0	62	28				
USP40	55230	broad.mit.edu	37	2	234460031	234460031	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:234460031A>G	uc010zmu.1	-	7	946	c.828T>C	c.(826-828)TTT>TTC	p.F276F	USP40_uc010zmr.1_Silent_p.F288F|USP40_uc010zmt.1_5'Flank			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	276					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCTGTTCACAAAAGGGCTTGA	0.323		NaN											0	0	0	0.006214	0	6	1				
KLHL30	377007	broad.mit.edu	37	2	239054468	239054468	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239054468T>C	uc002vxr.1	+	4	1124	c.1091T>C	c.(1090-1092)ATC>ACC	p.I364T		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	382	Kelch 3.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATCTACGTTATCGGCGGTGAG	0.657		NaN											0	0	0	0.002445	0	25	7				
PLCB1	23236	broad.mit.edu	37	20	8862423	8862423	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:8862423T>G	uc002wnb.2	+	32	3581	c.3578T>G	c.(3577-3579)GTG>GGG	p.V1193G	PLCB1_uc002wna.2_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1193					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCTGGAAAAGTGAACCACAAG	0.502		NaN											0	0	0	0.00361	0	59	68				
SEL1L2	80343	broad.mit.edu	37	20	13856714	13856714	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:13856714G>C	uc010gcf.2	-	12	1156	c.1074C>G	c.(1072-1074)GCC>GCG	p.A358A	SEL1L2_uc002woq.3_Silent_p.A219A|SEL1L2_uc010zrl.1_Silent_p.A358A|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	358	Extracellular (Potential).|Sel1-like 6.					integral to membrane	binding			ovary(2)	2						AGTACTTGAAGGCAGTAGCGT	0.373		NaN											0	0	0	0.00632	0	23	94				
C20orf186	149954	broad.mit.edu	37	20	31688261	31688261	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:31688261A>G	uc010zue.1	+	12	1614	c.1599A>G	c.(1597-1599)ACA>ACG	p.T533T		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	533						cytoplasm|extracellular region	lipid binding				0						CATTTTCCACAGAAGGAGATA	0.527		NaN											0	0	0	0.003163	0	5	33				
EDEM2	55741	broad.mit.edu	37	20	33735053	33735053	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:33735053G>A	uc002xbo.2	-	1	109	c.9C>T	c.(7-9)TTC>TTT	p.F3F	EDEM2_uc010zuv.1_Intron|EDEM2_uc010zus.1_5'Flank|EDEM2_uc002xbq.2_Silent_p.F3F|EDEM2_uc010zut.1_5'UTR|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	3					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGAGCAGCCGGAAAGGCATAG	0.677		NaN											0	0	0	0.00361	0	49	34				
CHD6	84181	broad.mit.edu	37	20	40049605	40049605	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:40049605T>A	uc002xka.1	-	31	5848	c.5670A>T	c.(5668-5670)GTA>GTT	p.V1890V		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1890					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TGAGATGCAATACCTCTGGCC	0.388		NaN											0	0	0	0.003954	0	23	20				
KCNK15	60598	broad.mit.edu	37	20	43374640	43374640	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43374640A>T	uc002xmr.2	+	1	153	c.89A>T	c.(88-90)GAG>GTG	p.E30V		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	30						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GACGCGCTCGAGTCCGAGGCG	0.721		NaN											0	0	0	0.009096	0	4	17				
STK4	6789	broad.mit.edu	37	20	43607147	43607147	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43607147A>T	uc002xnb.2	+	3	270	c.180A>T	c.(178-180)CAA>CAT	p.Q60H	STK4_uc010ggx.2_Missense_Mutation_p.Q60H|STK4_uc010ggy.2_Missense_Mutation_p.Q60H|STK4_uc010ggw.1_Missense_Mutation_p.Q60H	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	60	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CTATTAAGCAAGTTCCTGTGG	0.413		NaN											0	0	0	0.001855	0	11	28				
TAF4	6874	broad.mit.edu	37	20	60581776	60581776	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60581776G>A	uc002ybs.2	-	7	2013	c.2013C>T	c.(2011-2013)TCC>TCT	p.S671S		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	671	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAAGGCCGCGGAGTCGGGGG	0.657		NaN											0	0	0	0.00361	0	99	93				
MRPS6	64968	broad.mit.edu	37	21	35497670	35497670	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:35497670G>A	uc002ytp.2	+	2	253	c.75G>A	c.(73-75)ACG>ACA	p.T25T		NM_032476	NP_115865	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	25					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			skin(1)	1						TGAAACGTACGATAGAGGCCC	0.418		NaN											0	0	0	0.00361	0	44	44				
DSCR6	53820	broad.mit.edu	37	21	38390265	38390265	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:38390265T>G	uc002yvv.2	+	4	541	c.331T>G	c.(331-333)TTC>GTC	p.F111V	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	111	Ripply homology domain.					nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				CACGATTGACTTCTACGACGA	0.537		NaN											0	0	0	0.00245	0	12	29				
TFF1	7031	broad.mit.edu	37	21	43786556	43786556	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:43786556T>C	uc002zax.1	-	1	89	c.49A>G	c.(49-51)ATG>GTG	p.M17V		NM_003225	NP_003216	P04155	TFF1_HUMAN	trefoil factor 1 precursor	17					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity				0						AGGGCCAGCATGGACACCAGG	0.667		NaN											0	0	0	0.00333	0	20	46				
ICOSLG	23308	broad.mit.edu	37	21	45656811	45656811	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:45656811C>A	uc002zee.2	-	3	479	c.345G>T	c.(343-345)GTG>GTT	p.V115V	ICOSLG_uc011afc.1_Silent_p.V25V|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.V115V	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	115	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		ATTGGCTCAACACCAGGCAGT	0.607		NaN											1	0	7.75977e-34	0.00361	8.83008e-34	57	90				
MCM3AP	8888	broad.mit.edu	37	21	47700482	47700482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:47700482G>A	uc002zir.1	-	3	1487	c.1451C>T	c.(1450-1452)GCA>GTA	p.A484V		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	484					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AGCCAGGGCTGCAGATGCCTG	0.403		NaN											0	0	0	0.002299	0	17	30				
DGCR8	54487	broad.mit.edu	37	22	20074109	20074109	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:20074109A>G	uc002zri.2	+	2	973	c.623A>G	c.(622-624)AAT>AGT	p.N208S	DGCR8_uc010grz.2_Missense_Mutation_p.N208S|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	208	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TTTACTGACAATTTGGAGCTA	0.478		NaN											0	0	0	0.00361	0	47	19				
FOXRED2	80020	broad.mit.edu	37	22	36902136	36902136	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:36902136T>C	uc003apn.3	-	1	442	c.334A>G	c.(334-336)AGA>GGA	p.R112G	FOXRED2_uc003apo.3_Missense_Mutation_p.R112G|FOXRED2_uc003app.3_Missense_Mutation_p.R112G	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	112					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GAGTAGTGTCTGAAGAGCAGC	0.627		NaN											0	0	0	0.00361	0	96	52				
CSF2RB	1439	broad.mit.edu	37	22	37318275	37318275	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:37318275C>A	uc003aqa.3	+	2	243	c.26C>A	c.(25-27)TCC>TAC	p.S9Y	CSF2RB_uc003aqc.3_Missense_Mutation_p.S9Y	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	9					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GGGCTGCTCTCCATGGCCCTG	0.672		NaN											1	0	4.22769e-11	0.00632	4.5229e-11	20	6				
ARFGAP3	26286	broad.mit.edu	37	22	43218291	43218291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:43218291G>C	uc003bdd.2	-	9	1017	c.797C>G	c.(796-798)TCT>TGT	p.S266C	ARFGAP3_uc010gzf.2_Missense_Mutation_p.S222C|ARFGAP3_uc011apu.1_Missense_Mutation_p.S194C	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	266					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TTCTTCTTTAGATACCACCTT	0.338		NaN											0	0	0	0.001882	0	19	12				
EDEM1	9695	broad.mit.edu	37	3	5229970	5229970	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:5229970C>T	uc003bqi.2	+	1	612	c.480C>T	c.(478-480)TGC>TGT	p.C160C	EDEM1_uc011asz.1_5'UTR|EDEM1_uc003bqh.2_Silent_p.C160C	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	160	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCATCCACTGCCGCGGCCGTG	0.602		NaN											0	0	0	0.001882	0	16	31				
FBLN2	2199	broad.mit.edu	37	3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:13659771G>T	uc011avb.1	+	6	2050	c.1925G>T	c.(1924-1926)CGC>CTC	p.R642L	FBLN2_uc011auz.1_Missense_Mutation_p.R668L|FBLN2_uc011ava.1_Missense_Mutation_p.R642L|FBLN2_uc011avc.1_Missense_Mutation_p.R642L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	642	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GACGATGGCCGCACTTGCCGC	0.617		NaN											1	0	3.62473e-10	0.001882	3.83953e-10	19	50				
ANKRD28	23243	broad.mit.edu	37	3	15727600	15727600	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:15727600T>G	uc003caj.1	-	20	2131	c.1988A>C	c.(1987-1989)AAC>ACC	p.N663T	ANKRD28_uc003cai.1_Missense_Mutation_p.N509T|ANKRD28_uc011avz.1_Missense_Mutation_p.N509T|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N693T|ANKRD28_uc003cam.2_Missense_Mutation_p.N696T	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	663	ANK 19.					nucleoplasm	protein binding			breast(1)	1						TGTGTGCCCGTTGAGAACAGA	0.468		NaN											0	0	0	0.001168	0	5	12				
ZNF385D	79750	broad.mit.edu	37	3	21478519	21478519	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:21478519A>T	uc003cce.2	-	5	1024	c.616T>A	c.(616-618)TGT>AGT	p.C206S	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206	Matrin-type 2.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						CATAGCGAACAGTAAAGAAGC	0.483		NaN											0	0	0	0.007413	0	14	44				
SCAP	22937	broad.mit.edu	37	3	47484415	47484415	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:47484415T>C	uc003crh.1	-	2	324	c.69A>G	c.(67-69)GCA>GCG	p.A23A	SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	23	Helical; Name=1; (Potential).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATAGGATGCACAGAGGA	0.542		NaN											0	0	0	0.001168	0	5	18				
RBM5	10181	broad.mit.edu	37	3	50144929	50144929	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:50144929C>T	uc003cyg.2	+	12	1116	c.968C>T	c.(967-969)TCA>TTA	p.S323L	RBM5_uc011bdj.1_Missense_Mutation_p.S267L|RBM5_uc011bdk.1_Missense_Mutation_p.S151L	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	323	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGGTCCTCTCAGATGGTAAC	0.478		NaN											0	0	0	0.000978	0	9	21				
GRAMD1C	54762	broad.mit.edu	37	3	113563350	113563350	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:113563350G>A	uc003eaq.3	+	2	104	c.28G>A	c.(28-30)GTG>ATG	p.V10M	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral to membrane				ovary(2)|skin(1)	3						TTGTTTCCAGGTGATGAATGA	0.323		NaN											0	0	0	0.006214	0	9	20				
ITGB5	3693	broad.mit.edu	37	3	124540305	124540305	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:124540305C>T	uc003eho.2	-	6	1094	c.797G>A	c.(796-798)CGA>CAA	p.R266Q		NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	266	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		TGCATCCTTTCGCCAGCCAAT	0.567		NaN											0	0	0	0.003755	0	31	149				
COL6A6	131873	broad.mit.edu	37	3	130381085	130381085	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:130381085C>G	uc010htl.2	+	34	6466	c.6435C>G	c.(6433-6435)GGC>GGG	p.G2145G	COL6A6_uc003eni.3_Silent_p.G244G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2145	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCCAGCTTGGCCGAATTCATA	0.448		NaN											0	0	0	0.005443	0	18	116				
NPHP3	27031	broad.mit.edu	37	3	132408036	132408036	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:132408036T>A	uc003epe.1	-	20	2842	c.2765A>T	c.(2764-2766)TAC>TTC	p.Y922F	NPHP3_uc003epd.1_Missense_Mutation_p.Y164F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	922	TPR 3.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						TGAATCGAAGTATTCTGTTGC	0.408		NaN											0	0	0	0.002522	0	38	30				
CLSTN2	64084	broad.mit.edu	37	3	140277676	140277676	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:140277676C>G	uc003etn.2	+	12	2208	c.2018C>G	c.(2017-2019)GCC>GGC	p.A673G		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	673	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						AAAACCGAAGCCCCCGGGGAC	0.502		NaN								HNSCC(16;0.037)			0	0	0	0.008871	0	17	26				
HPS3	84343	broad.mit.edu	37	3	148889891	148889891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:148889891C>G	uc003ewu.1	+	17	3037	c.2897C>G	c.(2896-2898)TCA>TGA	p.S966*	CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Nonsense_Mutation_p.S801*|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	966						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAACATTGTCAATTGTTGCT	0.353		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.00333	0	22	14				
FNDC3B	64778	broad.mit.edu	37	3	172064198	172064198	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172064198A>T	uc003fhy.2	+	20	2504	c.2332A>T	c.(2332-2334)ACA>TCA	p.T778S	FNDC3B_uc003fhz.3_Missense_Mutation_p.T778S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	778	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TATTTCTTGTACACCTGATGG	0.423		NaN											0	0	0	0.00278	0	17	68				
TNFSF10	8743	broad.mit.edu	37	3	172227013	172227013	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172227013A>G	uc003fid.2	-	4	507	c.412T>C	c.(412-414)TCT>CCT	p.S138P	TNFSF10_uc003fie.2_Intron	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	138	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTACTTGGAGAAGACAATGTG	0.358		NaN											0	0	0	0.001984	0	5	28				
LEPREL1	55214	broad.mit.edu	37	3	189690704	189690704	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:189690704T>C	uc011bsk.1	-	11	2046	c.1658A>G	c.(1657-1659)TAT>TGT	p.Y553C	LEPREL1_uc003fsg.2_Missense_Mutation_p.Y372C	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	553					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAGGAAAAATACAGAGTTGA	0.433		NaN											0	0	0	0.004289	0	31	21				
MUC20	200958	broad.mit.edu	37	3	195453217	195453217	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:195453217C>G	uc010hzo.2	+	3	1356	c.1230C>G	c.(1228-1230)CTC>CTG	p.L410L	MUC20_uc010hzp.2_Silent_p.L375L|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	581	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAGCCGCCCTCAAGAACTTCA	0.597		NaN											0	0	0	0.004007	0	14	105				
MUC4	4585	broad.mit.edu	37	3	195512568	195512568	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:195512568T>C	uc011bto.1	-	2	6343	c.5883A>G	c.(5881-5883)GTA>GTG	p.V1961V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGGTACTGAGGAAG	0.602		NaN											0	0	0	0.004672	0	2	6				
HGFAC	3083	broad.mit.edu	37	4	3449359	3449359	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:3449359G>A	uc003ghc.2	+	11	1498	c.1495_splice	c.e11+1	p.V499_splice	HGFAC_uc010icw.2_Splice_Site_p.V506_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein						proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CACGACCTCGGTGAGCTCCGG	0.652		NaN											0	0	0	0.00361	0	216	288				
FBXL5	26234	broad.mit.edu	37	4	15626988	15626988	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:15626988A>C	uc003goc.1	-	9	1840	c.1737T>G	c.(1735-1737)CCT>CCG	p.P579P	FBXL5_uc010idw.1_Silent_p.P492P|FBXL5_uc003gob.1_Silent_p.P453P|FBXL5_uc010idx.1_Silent_p.P578P|FBXL5_uc003god.1_Silent_p.P562P|FBXL5_uc010idy.1_Silent_p.P579P	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	579	LRR 5.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						CTTTTCCCCTAGGCAATCTAG	0.398		NaN											0	0	0	0.006214	0	8	10				
ARAP2	116984	broad.mit.edu	37	4	36231078	36231078	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:36231078T>C	uc003gsq.1	-	2	369	c.31A>G	c.(31-33)ATA>GTA	p.I11V	ARAP2_uc003gsr.1_Missense_Mutation_p.I11V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	11	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAATCTTTTATATCCACATTT	0.383		NaN											0	0	0	0.000978	0	8	35				
KCTD8	386617	broad.mit.edu	37	4	44177154	44177154	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:44177154T>C	uc003gwu.2	-	2	1359	c.1075A>G	c.(1075-1077)AGT>GGT	p.S359G		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	359						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						CTGTCACAACTGGAAGTGGAG	0.468		NaN								HNSCC(17;0.042)			0	0	0	0.007413	0	17	38				
FRYL	285527	broad.mit.edu	37	4	48577219	48577219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48577219T>C	uc003gyh.1	-	25	3366	c.2761A>G	c.(2761-2763)ATA>GTA	p.I921V	FRYL_uc003gyk.2_Missense_Mutation_p.I921V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	921					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ATTGGAACTATGTGCTTAAAC	0.398		NaN											0	0	0	0.000602	0	5	28				
OCIAD1	54940	broad.mit.edu	37	4	48859275	48859275	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48859275C>G	uc003gyo.2	+	8	850	c.593C>G	c.(592-594)ACA>AGA	p.T198R	OCIAD1_uc003gyr.2_Missense_Mutation_p.T198R|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.T203R	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	198						endosome	protein binding				0						AAAAATATTACATATGAGGAA	0.333		NaN											0	0	0	0.001984	0	5	6				
SCFD2	152579	broad.mit.edu	37	4	54232001	54232001	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:54232001C>A	uc003gzu.2	-	1	242	c.108G>T	c.(106-108)CTG>CTT	p.L36L	SCFD2_uc010igm.2_Silent_p.L36L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	36					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCCCCAGTGCAGGCTCTCGG	0.652		NaN											1	0	1.43161e-34	0.00361	1.63341e-34	67	64				
ODAM	54959	broad.mit.edu	37	4	71068501	71068501	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71068501A>G	uc003hfc.2	+	9	694	c.677A>G	c.(676-678)CAA>CGA	p.Q226R		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	226					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						CCATATTTACAAAAAGAAGCG	0.388		NaN											0	0	0	0.00308	0	7	13				
GRSF1	2926	broad.mit.edu	37	4	71693625	71693625	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71693625T>C	uc010iia.1	-	6	1162	c.1079A>G	c.(1078-1080)CAT>CGT	p.H360R	GRSF1_uc011caz.1_Missense_Mutation_p.H242R|GRSF1_uc003hfs.2_Missense_Mutation_p.H198R	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1 isoform 1	360					mRNA polyadenylation		mRNA binding|nucleotide binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTACTTCATGTTCTTCAAA	0.383		NaN											0	0	0	0.002299	0	19	50				
WDFY3	23001	broad.mit.edu	37	4	85731400	85731400	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:85731400T>C	uc003hpd.2	-	14	2393	c.1985A>G	c.(1984-1986)GAA>GGA	p.E662G	WDFY3_uc003hpf.2_Missense_Mutation_p.E662G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	662						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAAGATCTTTCCATAGCAAC	0.458		NaN											0	0	0	0.001368	0	10	29				
ANKRD50	57182	broad.mit.edu	37	4	125590169	125590169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:125590169G>C	uc003ifg.3	-	3	4529	c.4263C>G	c.(4261-4263)TTC>TTG	p.F1421L	ANKRD50_uc011cgo.1_Missense_Mutation_p.F1242L|ANKRD50_uc010inw.2_Missense_Mutation_p.F1421L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1421										central_nervous_system(1)	1						TTTTATAGTTGAAGCTAGGGT	0.318		NaN											0	0	0	0.009096	0	4	4				
PCDH18	54510	broad.mit.edu	37	4	138452651	138452651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:138452651G>A	uc003ihe.3	-	1	979	c.592C>T	c.(592-594)CTC>TTC	p.L198F	PCDH18_uc003ihf.3_Missense_Mutation_p.L191F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	198	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACCACTATGAGTTCTGCATAC	0.488		NaN											0	0	0	0.00308	0	8	30				
FNIP2	57600	broad.mit.edu	37	4	159789770	159789770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:159789770G>T	uc003iqe.3	+	13	2165	c.1982G>T	c.(1981-1983)GGC>GTC	p.G661V		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	661	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCGCAAGATGGCTCTTCAAGA	0.522		NaN											1	0	1.49906e-05	0.00245	1.53851e-05	14	13				
FSTL5	56884	broad.mit.edu	37	4	162697123	162697123	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:162697123G>A	uc003iqh.2	-	5	949	c.513C>T	c.(511-513)GAC>GAT	p.D171D	FSTL5_uc003iqi.2_Silent_p.D170D|FSTL5_uc010iqv.2_Silent_p.D170D	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	171						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAGATATGTCGTCGCCATTAG	0.303		NaN											0	0	0	0.000602	0	5	9				
ANP32C	23520	broad.mit.edu	37	4	165118190	165118191	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:165118190_165118191CC>AG	uc011cjk.1	-	1	673_674	c.673_674GG>CT	c.(673-675)GGT>CTT	p.G225L	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	225	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ttcttcttcaccaagctcttct	0.035		NaN											0	0	0	0.004672	0	8	6				
PDZD2	23037	broad.mit.edu	37	5	32048677	32048677	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32048677T>C	uc003jhl.2	+	8	1940	c.1552T>C	c.(1552-1554)TAT>CAT	p.Y518H	PDZD2_uc003jhm.2_Missense_Mutation_p.Y518H|PDZD2_uc011cnx.1_Missense_Mutation_p.Y344H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	518					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGTTGAAGAATATAACGAGCT	0.527		NaN											0	0	0	0.00361	0	51	46				
PDZD2	23037	broad.mit.edu	37	5	32089375	32089375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32089375G>T	uc003jhl.2	+	20	6209	c.5821G>T	c.(5821-5823)GAG>TAG	p.E1941*	PDZD2_uc003jhm.2_Nonsense_Mutation_p.E1941*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1941					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGCCGACCACGAGGACCCTGA	0.602		NaN											1	0	1.26289e-39	0.00361	1.44861e-39	96	88				
SPEF2	79925	broad.mit.edu	37	5	35779431	35779431	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:35779431T>G	uc003jjo.2	+	30	4541	c.4430T>G	c.(4429-4431)TTA>TGA	p.L1477*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.L963*|SPEF2_uc003jjr.2_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1477					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATCAGTTCTTAGATATGGCA	0.398		NaN											0	0	0	0.004878	0	31	26				
C7	730	broad.mit.edu	37	5	40972587	40972587	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:40972587G>C	uc003jmh.2	+	15	2079	c.1965G>C	c.(1963-1965)GTG>GTC	p.V655V	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	655	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GTGAGAAGGTGACTGTTTCCT	0.473		NaN											0	0	0	0.00308	0	7	70				
HEATR7B2	133558	broad.mit.edu	37	5	41045898	41045898	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:41045898G>C	uc003jmj.3	-	18	2276	c.1786C>G	c.(1786-1788)CAG>GAG	p.Q596E	HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q151E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	596	HEAT 7.						binding			ovary(6)|central_nervous_system(2)	8						TTGAAATCCTGAGTCAGCTGA	0.388		NaN											0	0	0	0.00361	0	112	93				
MGC42105	167359	broad.mit.edu	37	5	43277375	43277375	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:43277375A>T	uc003jno.2	+	3	1390	c.509A>T	c.(508-510)GAA>GTA	p.E170V		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	170	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						AAGCTCTCTGAACCAGAAAGC	0.532		NaN											0	0	0	0.00623	0	29	77				
F2RL1	2150	broad.mit.edu	37	5	76129480	76129480	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:76129480G>C	uc003keo.2	+	2	1223	c.1048G>C	c.(1048-1050)GAT>CAT	p.D350H		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	350	Cytoplasmic (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTTCACATGATTTCAGGGA	0.488		NaN											0	0	0	0.00361	0	129	53				
PJA2	9867	broad.mit.edu	37	5	108680459	108680459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:108680459C>G	uc003kos.3	-	8	2046	c.1826G>C	c.(1825-1827)AGT>ACT	p.S609T		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	609	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GCTTTCCTTACTAGCTGGTGG	0.413		NaN											0	0	0	0.003755	0	26	22				
CHSY3	337876	broad.mit.edu	37	5	129520908	129520908	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:129520908G>A	uc003kvd.2	+	3	2073	c.2073G>A	c.(2071-2073)ATG>ATA	p.M691I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	691	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGATCCCAATGAAGGGAGAGT	0.443		NaN											0	0	0	0.00245	0	15	5				
FNIP1	96459	broad.mit.edu	37	5	131008068	131008068	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:131008068T>C	uc003kvs.1	-	14	2211	c.2069A>G	c.(2068-2070)GAC>GGC	p.D690G	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D662G|FNIP1_uc010jdm.1_Missense_Mutation_p.D645G	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	690					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGCACATTTGTCTACTGGAAC	0.418		NaN											0	0	0	0.00361	0	75	38				
ARHGAP26	23092	broad.mit.edu	37	5	142513586	142513586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:142513586C>G	uc011dbj.1	+	19	1788	c.1753C>G	c.(1753-1755)CGG>GGG	p.R585G	ARHGAP26_uc003lmt.2_Missense_Mutation_p.R585G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R585G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	585	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCTGTCTCGGAAGAAGAG	0.537		NaN											0	0	0	0.00361	0	125	41				
FAT2	2196	broad.mit.edu	37	5	150947267	150947267	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:150947267T>A	uc003lue.3	-	1	1239	c.1226A>T	c.(1225-1227)AAT>ATT	p.N409I	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.N409I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	409	Extracellular (Potential).|Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTCGAGCATTAAGTTTAAA	0.537		NaN											0	0	0	0.002445	0	30	9				
CNOT8	9337	broad.mit.edu	37	5	154250228	154250228	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:154250228A>G	uc003lvu.2	+	5	798	c.319A>G	c.(319-321)ATG>GTG	p.M107V	CNOT8_uc011ddf.1_Missense_Mutation_p.M1V|CNOT8_uc011ddg.1_Missense_Mutation_p.M1V|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.M107V|CNOT8_uc010jig.2_Missense_Mutation_p.M1V|CNOT8_uc010jif.2_Missense_Mutation_p.M1V|CNOT8_uc003lvw.2_Missense_Mutation_p.M107V|CNOT8_uc011ddi.1_Missense_Mutation_p.M1V|CNOT8_uc011ddj.1_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	107					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGAGAGGACATGTACTCCCA	0.398		NaN						Direct_reversal_of_damage					0	0	0	0.006122	0	16	7				
HIST1H2AG	8969	broad.mit.edu	37	6	27101228	27101228	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:27101228G>A	uc003niw.2	+	1	412	c.378G>A	c.(376-378)AAG>AAA	p.K126K	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	126					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GCCACCACAAGGCGAAGGGCA	0.522		NaN											0	0	0	0.004289	0	32	61				
TRIM31	11074	broad.mit.edu	37	6	30071549	30071549	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30071549C>T	uc003npg.1	-	9	1152	c.1042G>A	c.(1042-1044)GGG>AGG	p.G348R	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	348						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TTTGGTGGCCCCGATGTAGTT	0.567		NaN											0	0	0	0.00361	0	42	128				
MDC1	9656	broad.mit.edu	37	6	30672554	30672554	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30672554G>T	uc003nrg.3	-	10	4846	c.4406C>A	c.(4405-4407)CCT>CAT	p.P1469H	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1076H	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1469	Pro-rich.|Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTGAGACGTAGGCTCAGGGGT	0.562		NaN						Other_conserved_DNA_damage_response_genes					1	0	4.21773e-46	0.00361	4.864e-46	81	108				
HLA-C	3107	broad.mit.edu	37	6	31239079	31239079	+	Silent	SNP	G	G	A	rs45558335		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:31239079G>A	uc003nsy.2	-	3	397	c.390C>T	c.(388-390)GAC>GAT	p.D130D	HLA-C_uc011dnj.1_Silent_p.D102D|HLA-C_uc003nsx.2_Silent_p.D9D|HLA-C_uc003nsz.2_Silent_p.D130D|HLA-C_uc010jsl.2_Silent_p.D130D|HLA-C_uc003nta.2_Silent_p.D130D|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Silent_p.D9D|HLA-B_uc003ntf.2_Silent_p.D130D	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	130	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GGAGGCGCCCGTCGGGCCCCA	0.741		NaN											0	0	0	0.00361	0	25	190				
NOTCH4	4855	broad.mit.edu	37	6	32169985	32169985	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:32169985G>T	uc003obb.2	-	21	3762	c.3623C>A	c.(3622-3624)CCA>CAA	p.P1208Q	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1208	LNR 1.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CCAGGGGTCTGGGACTCCCAG	0.637		NaN											1	0	2.84431e-33	0.00361	3.22806e-33	79	114				
ITPR3	3710	broad.mit.edu	37	6	33623613	33623613	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:33623613T>C	uc011drk.1	+	3	450	c.231T>C	c.(229-231)ACT>ACC	p.T77T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	77	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCAAGCAGACTAAGCAGGACA	0.572		NaN											0	0	0	0.00361	0	52	71				
STK38	11329	broad.mit.edu	37	6	36483157	36483157	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:36483157G>A	uc003omg.2	-	6	1215	c.627C>T	c.(625-627)ATC>ATT	p.I209I	STK38_uc003omh.2_Silent_p.I209I|STK38_uc003omi.2_Silent_p.I209I	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	209	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TGTCTCTGTGGATGAATCCAA	0.433		NaN											0	0	0	0.00623	0	32	36				
TAF8	129685	broad.mit.edu	37	6	42019188	42019188	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:42019188G>C	uc003ors.2	+	2	168	c.139G>C	c.(139-141)GAG>CAG	p.E47Q	CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Missense_Mutation_p.E47Q|TAF8_uc003ort.2_Missense_Mutation_p.E47Q|TAF8_uc003oru.1_Missense_Mutation_p.E47Q|TAF8_uc003orv.1_Missense_Mutation_p.E47Q|TAF8_uc011dun.1_5'UTR	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	47	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTTGCTGACAGAGGCAGGGTT	0.537		NaN											0	0	0	0.002299	0	23	74				
CUL9	23113	broad.mit.edu	37	6	43156452	43156452	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43156452A>C	uc003ouk.2	+	8	2254	c.2179A>C	c.(2179-2181)AGA>CGA	p.R727R	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Silent_p.R727R|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	727					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CAGATCGCTGAGGTTAGCATA	0.552		NaN											0	0	0	0.003214	0	34	67				
POLR1C	9533	broad.mit.edu	37	6	43488129	43488129	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43488129G>A	uc003ovn.2	+	6	676	c.619G>A	c.(619-621)GAA>AAA	p.E207K	POLR1C_uc003ovo.1_Missense_Mutation_p.E207K	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	207					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCTGGCCAAGAAATTGACCT	0.562		NaN											0	0	0	0.007291	0	22	107				
POLH	5429	broad.mit.edu	37	6	43571701	43571701	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43571701C>T	uc003ovq.3	+	7	1141	c.837C>T	c.(835-837)ACC>ACT	p.T279T	POLH_uc010jyu.2_Silent_p.T155T|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Silent_p.T180T	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	279					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGAACTGACCCAGTTCACTG	0.408		NaN						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				0	0	0	0.007413	0	14	23				
IBTK	25998	broad.mit.edu	37	6	82936933	82936933	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:82936933T>G	uc003pjl.1	-	5	1157	c.630A>C	c.(628-630)GGA>GGC	p.G210G	IBTK_uc011dyv.1_Silent_p.G210G|IBTK_uc011dyw.1_Silent_p.G210G|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Silent_p.G210G	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	210	RCC1 2.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CATCTCCATGTCCTAATCGCC	0.378		NaN											0	0	0	0.002445	0	26	47				
MDN1	23195	broad.mit.edu	37	6	90353822	90353822	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90353822A>G	uc003pnn.1	-	102	16809	c.16693T>C	c.(16693-16695)TAC>CAC	p.Y5565H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5565	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGATATAGTATGGGAATGGG	0.448		NaN											0	0	0	0.00245	0	12	46				
MDN1	23195	broad.mit.edu	37	6	90422326	90422326	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90422326G>A	uc003pnn.1	-	48	7514	c.7398C>T	c.(7396-7398)AAC>AAT	p.N2466N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2466					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTCATCCTGTTGAGACAAT	0.468		NaN											0	0	0	0.00361	0	41	52				
MAP3K7	6885	broad.mit.edu	37	6	91254347	91254347	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91254347A>C	uc003pnz.1	-	12	1377	c.1215T>G	c.(1213-1215)TAT>TAG	p.Y405*	MAP3K7_uc003poa.1_Nonsense_Mutation_p.Y405*|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	405					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAGGCTTGGAATAGGCTGCAA	0.388		NaN											0	0	0	0.006214	0	9	34				
AIM1	202	broad.mit.edu	37	6	107011686	107011686	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:107011686T>G	uc003prh.2	+	19	5449	c.4962T>G	c.(4960-4962)TCT>TCG	p.S1654S	AIM1_uc003pri.2_Silent_p.S458S	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1654	Ricin B-type lectin.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGTAACATCTGGCTCCAAGC	0.493		NaN											0	0	0	0.002522	0	30	36				
SASH1	23328	broad.mit.edu	37	6	148865308	148865308	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:148865308C>A	uc003qme.1	+	18	3177	c.2702C>A	c.(2701-2703)TCT>TAT	p.S901Y	SASH1_uc011eeb.1_Missense_Mutation_p.S662Y|SASH1_uc003qmf.1_Missense_Mutation_p.S311Y	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	901							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAGAGATTTTCTGAACCTCAG	0.537		NaN											1	0	4.65686e-17	0.003755	5.10945e-17	30	102				
CNKSR3	154043	broad.mit.edu	37	6	154762424	154762424	+	Splice_Site	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:154762424A>C	uc003qpy.2	-	4	1012	c.507_splice	c.e4+1	p.K169_splice		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CATACTACTGACCTTCTGGAC	0.373		NaN											0	0	0	0.001984	0	5	28				
EIF2AK1	27102	broad.mit.edu	37	7	6086641	6086641	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:6086641T>C	uc003spp.2	-	5	677	c.531A>G	c.(529-531)GGA>GGG	p.G177G	EIF2AK1_uc003spq.2_Silent_p.G177G|EIF2AK1_uc011jwm.1_Silent_p.G53G|EIF2AK1_uc003spr.1_5'Flank	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	177	ATP (By similarity).|Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTCTTCCGTATCCACCTTTTC	0.328		NaN											0	0	0	0.009718	0	33	15				
AGR2	10551	broad.mit.edu	37	7	16834567	16834567	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:16834567T>C	uc003str.2	-	7	658	c.471A>G	c.(469-471)ACA>ACG	p.T157T		NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	157					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TACACAGAGCTGTATCTGCAG	0.378		NaN											0	0	0	0.004007	0	14	49				
C7orf25	79020	broad.mit.edu	37	7	42949751	42949751	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:42949751A>T	uc003thw.2	-	2	1213	c.749T>A	c.(748-750)CTG>CAG	p.L250Q	C7orf25_uc010kxq.2_Missense_Mutation_p.L250Q|C7orf25_uc003thx.3_Missense_Mutation_p.L308Q|C7orf25_uc010kxr.2_Missense_Mutation_p.L308Q	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	250										skin(1)	1						AGTAATGTCCAGATTTACTCT	0.413		NaN											0	0	0	0.001882	0	18	51				
HECW1	23072	broad.mit.edu	37	7	43436489	43436489	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:43436489G>C	uc003tid.1	+	7	1236	c.631_splice	c.e7+1	p.D211_splice	HECW1_uc011kbi.1_Splice_Site_p.D211_splice|HECW1_uc003tie.1_Splice_Site_p.D243_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TCTCTCTCAGGTATGTTTTGC	0.403		NaN											0	0	0	0.000978	0	10	31				
PKD1L1	168507	broad.mit.edu	37	7	47892757	47892757	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:47892757A>G	uc003tny.1	-	31	4928	c.4928T>C	c.(4927-4929)GTG>GCG	p.V1643A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1643	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ATAAATCTGCACAATTGACTC	0.388		NaN											0	0	0	0.005524	0	24	70				
GUSB	2990	broad.mit.edu	37	7	65439384	65439384	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:65439384A>C	uc003tun.2	-	8	1365	c.1289T>G	c.(1288-1290)ATG>AGG	p.M430R	GUSB_uc011kdt.1_Missense_Mutation_p.M284R	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	430					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						CACTTCTTCCATCACCTGCAT	0.607		NaN											0	0	0	0.00361	0	126	183				
PION	54103	broad.mit.edu	37	7	77006665	77006665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:77006665C>T	uc003ugf.2	-	9	698	c.619G>A	c.(619-621)GAG>AAG	p.E207K	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	207					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						ACGAAATCCTCAGCTATTCTG	0.323		NaN											0	0	0	0.010504	0	17	88				
ZKSCAN5	23660	broad.mit.edu	37	7	99129564	99129564	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99129564A>C	uc003uqv.2	+	7	2336	c.2212A>C	c.(2212-2214)ACT>CCT	p.T738P	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.T665P|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.T474P	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	738	C2H2-type 10.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCATTACAGAACTCATACAGC	0.398		NaN											0	0	0	0.003271	0	30	32				
CYP3A4	1576	broad.mit.edu	37	7	99375680	99375680	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99375680T>G	uc003urv.1	-	3	293	c.189A>C	c.(187-189)GAA>GAC	p.E63D	CYP3A4_uc003urw.1_Missense_Mutation_p.E63D|CYP3A4_uc011kiz.1_Missense_Mutation_p.E63D|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	63					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTTTATGACATTCCATGTCAA	0.363		NaN											0	0	0	0.000978	0	11	18				
EPHB4	2050	broad.mit.edu	37	7	100417868	100417868	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:100417868G>C	uc003uwn.1	-	5	1350	c.859C>G	c.(859-861)CCA>GCA	p.P287A	EPHB4_uc003uwm.1_Missense_Mutation_p.P194A|EPHB4_uc010lhj.1_Missense_Mutation_p.P287A|EPHB4_uc011kkf.1_Missense_Mutation_p.P287A|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P287A	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	287	Extracellular (Potential).|Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGGCATGGCTGGCAGGAC	0.592		NaN											0	0	0	0.00361	0	164	335				
COG5	10466	broad.mit.edu	37	7	106921779	106921779	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:106921779G>A	uc003ved.2	-	14	2159	c.1634C>T	c.(1633-1635)ACC>ATC	p.T545I	COG5_uc003vec.2_Missense_Mutation_p.T545I|COG5_uc003vee.2_Missense_Mutation_p.T545I	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	545					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TAACTGGATGGTCTTTGCCAC	0.299		NaN											0	0	0	0.010504	0	13	25				
PPP1R3A	5506	broad.mit.edu	37	7	113519130	113519130	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:113519130T>G	uc010ljy.1	-	4	2048	c.2017A>C	c.(2017-2019)ACA>CCA	p.T673P		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	673					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATATGCTCTGTTATGTTTGTC	0.378		NaN											0	0	0	0.00361	0	43	49				
KCND2	3751	broad.mit.edu	37	7	120381638	120381638	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:120381638T>C	uc003vjj.1	+	3	2294	c.1329T>C	c.(1327-1329)GCT>GCC	p.A443A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	443	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GCGCAAATGCTTACATGCAGA	0.368		NaN											0	0	0	0.010504	0	14	24				
PLXNA4	91584	broad.mit.edu	37	7	131832748	131832748	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:131832748C>G	uc003vra.3	-	27	5004	c.4775G>C	c.(4774-4776)GGT>GCT	p.G1592A	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1592	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CACCACGGAACCATCTGGCAC	0.507		NaN											0	0	0	0.001855	0	12	78				
UBN2	254048	broad.mit.edu	37	7	138978726	138978726	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:138978726C>A	uc011kqr.1	+	17	3993	c.3993C>A	c.(3991-3993)CAC>CAA	p.H1331Q		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1331										ovary(1)|skin(1)	2						AAGCATTTCACGGTGAGAACG	0.433		NaN											1	0	2.23348e-06	0.004007	2.31441e-06	14	25				
KEL	3792	broad.mit.edu	37	7	142650920	142650920	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:142650920C>A	uc003wcb.2	-	9	1258	c.1048G>T	c.(1048-1050)GTG>TTG	p.V350L		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	350	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					ATCTCCTCCACCAGTTGTGAC	0.537		NaN											1	0	5.88774e-50	0.00361	6.8266e-50	109	199				
ZNF786	136051	broad.mit.edu	37	7	148769267	148769267	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:148769267G>A	uc003wfh.2	-	4	734	c.597C>T	c.(595-597)AAC>AAT	p.N199N	ZNF786_uc011kuk.1_Silent_p.N162N|ZNF786_uc003wfi.2_Silent_p.N113N	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	199	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTAAATGGTTGTTCTCCCAAC	0.582		NaN											0	0	0	0.00245	0	9	22				
FGF20	26281	broad.mit.edu	37	8	16859521	16859521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:16859521G>A	uc003wxc.1	-	1	154	c.21C>T	c.(19-21)GTC>GTT	p.V7V	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.V7V	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	7					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAAAGCCCCCGACTTCGGCTA	0.637		NaN											0	0	0	0.00308	0	6	3				
DPYSL2	1808	broad.mit.edu	37	8	26509890	26509890	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:26509890C>T	uc003xfb.1	+	12	1749	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	DPYSL2_uc003xfa.2_Missense_Mutation_p.R572C|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.R431C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	467					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGCTCTGGACGCTACATTCC	0.522		NaN											0	0	0	0.010504	0	19	45				
PRKDC	5591	broad.mit.edu	37	8	48817520	48817520	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:48817520T>C	uc003xqi.2	-	26	3008	c.2951A>G	c.(2950-2952)TAT>TGT	p.Y984C	PRKDC_uc003xqj.2_Missense_Mutation_p.Y984C|PRKDC_uc011ldh.1_Missense_Mutation_p.Y984C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	984					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAGTGGCTCATACAGTTGCCT	0.358		NaN						NHEJ					0	0	0	0.00333	0	19	19				
MOS	4342	broad.mit.edu	37	8	57025641	57025641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:57025641C>T	uc011leb.1	-	1	901	c.901G>A	c.(901-903)GCT>ACT	p.A301T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	301	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAGACGGCAGCGGAGAGGGAC	0.692		NaN											0	0	0	0.005524	0	26	67				
C8orf45	157777	broad.mit.edu	37	8	67803255	67803255	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:67803255T>C	uc003xwz.3	+	10	1400	c.1229T>C	c.(1228-1230)ATA>ACA	p.I410T	C8orf45_uc011lev.1_Missense_Mutation_p.I410T|C8orf45_uc011lew.1_Missense_Mutation_p.I341T|C8orf45_uc011lex.1_Missense_Mutation_p.I168T|C8orf45_uc003xwy.3_Missense_Mutation_p.I410T	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	410					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCTGCTTTATAGGAGACTTG	0.368		NaN											0	0	0	0.002299	0	17	12				
RIMS2	9699	broad.mit.edu	37	8	105263981	105263981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:105263981C>T	uc003yls.2	+	28	4278	c.4037C>T	c.(4036-4038)CCT>CTT	p.P1346L	RIMS2_uc003ylp.2_Missense_Mutation_p.P1328L|RIMS2_uc003ylq.2_Missense_Mutation_p.P1142L|RIMS2_uc003ylr.2_Missense_Mutation_p.P1167L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1390					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTTGGCCCCTCTGACAAGA	0.448		NaN								HNSCC(12;0.0054)			0	0	0	0.006214	0	7	64				
CSMD3	114788	broad.mit.edu	37	8	114290867	114290867	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:114290867G>C	uc003ynu.2	-	3	627	c.468C>G	c.(466-468)ACC>ACG	p.T156T	CSMD3_uc003ynt.2_Silent_p.T116T|CSMD3_uc011lhx.1_Silent_p.T156T|CSMD3_uc010mcx.1_Silent_p.T156T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	156	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAAAATCACTGGTCAAACGTA	0.373		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.004007	0	11	41				
ANXA13	312	broad.mit.edu	37	8	124714886	124714886	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:124714886C>A	uc003yqu.2	-	3	255	c.182G>T	c.(181-183)GGC>GTC	p.G61V	ANXA13_uc003yqt.2_Missense_Mutation_p.G102V	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	61	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCACCTTGCCGTACGTTGC	0.507		NaN											1	0	1.26612e-14	0.003271	1.3821e-14	26	102				
JRK	8629	broad.mit.edu	37	8	143745928	143745928	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:143745928C>T	uc003ywo.2	-	3	2062	c.1548G>A	c.(1546-1548)CGG>CGA	p.R516R	JRK_uc003ywp.2_Silent_p.R516R|JRK_uc010mew.1_Missense_Mutation_p.G517E	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				CACGCAGCGCCCgcagctgcc	0.363		NaN											0	0	0	0.007413	0	15	27				
FBXL6	26233	broad.mit.edu	37	8	145579794	145579794	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:145579794G>T	uc003zcb.2	-	8	1331	c.1306C>A	c.(1306-1308)CAG>AAG	p.Q436K	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.Q163K|FBXL6_uc003zca.2_Missense_Mutation_p.Q430K|FBXL6_uc010mfx.2_Missense_Mutation_p.Q197K|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	436	LRR 9.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACCACTTCTGGGTCAAAAAG	0.592		NaN											1	0	1.53134e-21	0.00361	1.70193e-21	58	105				
INSL4	3641	broad.mit.edu	37	9	5231528	5231528	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:5231528C>T	uc003ziy.2	+	1	110	c.5C>T	c.(4-6)GCC>GTC	p.A2V		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	2					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TCCAGGATGGCCAGCCTGTTC	0.557		NaN											0	0	0	0.005524	0	28	31				
CNTFR	1271	broad.mit.edu	37	9	34557969	34557969	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:34557969C>A	uc003zup.1	-	5	614	c.333G>T	c.(331-333)GAG>GAT	p.E111D	CNTFR_uc003zuq.1_Missense_Mutation_p.E111D	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	111	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGAGCACAGGCTCCCGCGGCG	0.627		NaN											1	0	2.97109e-61	0.00361	3.46359e-61	132	252				
FOXB2	442425	broad.mit.edu	37	9	79635344	79635344	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:79635344G>A	uc004ako.1	+	1	774	c.774G>A	c.(772-774)GCG>GCA	p.A258A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	258	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ctgccgccgcggccgcGGCGT	0.453		NaN											0	0	0	0.00499	0	16	20				
SYK	6850	broad.mit.edu	37	9	93629433	93629433	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:93629433A>G	uc004aqz.2	+	7	1072	c.867A>G	c.(865-867)ATA>ATG	p.I289M	SYK_uc004aqy.2_Missense_Mutation_p.I289M|SYK_uc004ara.2_Intron|SYK_uc004arb.2_Intron|SYK_uc004arc.2_Missense_Mutation_p.I289M|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	289	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CGGGTGGAATAATCTCAAGAA	0.463		NaN	T	ETV6|ITK	MDS|peripheral T-cell lymphoma								0	0	0	0.006999	0	33	38				
WNK2	65268	broad.mit.edu	37	9	96051184	96051184	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:96051184C>G	uc004ati.1	+	20	4259	c.4259C>G	c.(4258-4260)CCT>CGT	p.P1420R	WNK2_uc011lud.1_Missense_Mutation_p.P1383R|WNK2_uc004atj.2_Missense_Mutation_p.P1383R|WNK2_uc004atk.2_Missense_Mutation_p.P1020R|WNK2_uc004atl.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1420					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCCCCAGCCCCTTTGGCCCCC	0.652		NaN											0	0	0	0.002299	0	20	13				
GRIN3A	116443	broad.mit.edu	37	9	104499615	104499615	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:104499615A>G	uc004bbp.1	-	1	1248	c.647T>C	c.(646-648)CTG>CCG	p.L216P	GRIN3A_uc004bbq.1_Missense_Mutation_p.L216P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	216	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGAATGTGCAGGACTAAGCT	0.627		NaN											0	0	0	0.00361	0	38	110				
ABCA1	19	broad.mit.edu	37	9	107593948	107593948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:107593948C>T	uc004bcl.2	-	13	1983	c.1670G>A	c.(1669-1671)CGA>CAA	p.R557Q		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	557	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATGTCCATTCGGATCTTGTA	0.488		NaN											0	0	0	0.001855	0	13	14				
ZNF462	58499	broad.mit.edu	37	9	109694734	109694734	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:109694734G>T	uc004bcz.2	+	5	6309	c.6020G>T	c.(6019-6021)CGT>CTT	p.R2007L	ZNF462_uc010mto.2_Missense_Mutation_p.R1916L|ZNF462_uc004bda.2_Missense_Mutation_p.R1915L|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2007					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CAGGGGCTGCGTTCTCATGAG	0.537		NaN											1	0	6.44725e-10	0.002299	6.79575e-10	20	59				
C9orf152	401546	broad.mit.edu	37	9	112963549	112963549	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:112963549G>T	uc011lwk.1	-	2	953	c.399C>A	c.(397-399)GAC>GAA	p.D133E		NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	hypothetical protein LOC401546	133											0						GATGACTGGTGTCCTGGGGGG	0.557		NaN											1	0	2.51541e-25	0.004878	2.8249e-25	31	129				
TNC	3371	broad.mit.edu	37	9	117846585	117846585	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:117846585G>T	uc004bjj.3	-	4	2396	c.2034C>A	c.(2032-2034)ATC>ATA	p.I678I	TNC_uc010mvf.2_Silent_p.I678I	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	678	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GCTCCTGGATGATGGTGGACG	0.572		NaN											1	0	3.41278e-10	0.00499	3.62397e-10	14	43				
MEGF9	1955	broad.mit.edu	37	9	123421791	123421791	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:123421791C>T	uc004bkj.1	-	4	775	c.775G>A	c.(775-777)GGG>AGG	p.G259R	MEGF9_uc011lyb.1_Missense_Mutation_p.G214R|MEGF9_uc004bkk.3_Missense_Mutation_p.G214R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	222	Laminin EGF-like 1.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						TCACACTGCCCTGTGGTCTGG	0.478		NaN											0	0	0	0.006214	0	8	11				
FAM129B	64855	broad.mit.edu	37	9	130280165	130280165	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:130280165C>T	uc004brh.2	-	6	847	c.645G>A	c.(643-645)ATG>ATA	p.M215I	FAM129B_uc004bri.2_Missense_Mutation_p.M202I|FAM129B_uc004brj.3_Missense_Mutation_p.M215I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	215							protein binding				0						ACTGTCGGTACATGCGGATGG	0.612		NaN											0	0	0	0.005443	0	21	30				
CLIC3	9022	broad.mit.edu	37	9	139890163	139890163	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139890163C>G	uc004ckj.1	-	2	109	c.80G>C	c.(79-81)CGG>CCG	p.R27P		NM_004669	NP_004660	O95833	CLIC3_HUMAN	chloride intracellular channel 3	27	Required for insertion into the membrane (By similarity).|Helical; (Potential).|GST N-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATGAAGAGCCGCTGGCAGGA	0.697		NaN											0	0	0	0.00245	0	11	31				
GRIN1	2902	broad.mit.edu	37	9	140052946	140052946	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140052946G>T	uc004clk.2	+	7	1414	c.1084G>T	c.(1084-1086)GTG>TTG	p.V362L	GRIN1_uc004cli.1_Missense_Mutation_p.V37L|GRIN1_uc004clj.1_Missense_Mutation_p.V359L|GRIN1_uc004cll.2_Missense_Mutation_p.V362L|GRIN1_uc004clm.2_Missense_Mutation_p.V362L|GRIN1_uc004cln.2_Missense_Mutation_p.V380L|GRIN1_uc004clo.2_Missense_Mutation_p.V380L	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	362	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCGCAAGCTGGTGCAAGTGGG	0.617		NaN											1	0	1.16021e-09	0.007291	1.21992e-09	25	80				
SSNA1	8636	broad.mit.edu	37	9	140083594	140083594	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140083594G>A	uc004cls.2	+	2	254	c.129G>A	c.(127-129)CTG>CTA	p.L43L	ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	NM_003731	NP_003722	O43805	SSNA1_HUMAN	nuclear autoantigen of 14 kDa	43	Potential.				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AGCAGCGGCTGCAGAATGAGG	0.657		NaN											0	0	0	0.00333	0	23	30				
ARRDC1	92714	broad.mit.edu	37	9	140508609	140508609	+	Silent	SNP	C	C	G	rs145510266		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140508609C>G	uc004cns.2	+	5	635	c.561C>G	c.(559-561)GCC>GCG	p.A187A	ARRDC1_uc004cnt.2_Silent_p.A62A|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.A167A|ARRDC1_uc004cnw.2_Silent_p.A62A|ARRDC1_uc004cnp.1_Silent_p.A187A|ARRDC1_uc004cnq.1_Silent_p.A169A|ARRDC1_uc011mfb.1_Silent_p.A62A|ARRDC1_uc004cnx.1_Silent_p.A62A|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	187											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AGCTGCATGCCGACGTTGAGA	0.642		NaN											0	0	0	0.00361	0	340	356				
FANCB	2187	broad.mit.edu	37	X	14863348	14863348	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:14863348C>A	uc004cwg.1	-	8	1825	c.1557G>T	c.(1555-1557)CGG>CGT	p.R519R	FANCB_uc004cwh.1_Silent_p.R519R	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	519					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					ACTTTAGAAGCCGAAATCTGG	0.388		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	4.35082e-09	0.010504	4.56357e-09	19	6				
KDM6A	7403	broad.mit.edu	37	X	44922670	44922670	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:44922670A>T	uc004dge.3	+	16	1906	c.1531A>T	c.(1531-1533)AGA>TGA	p.R511*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.R477*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R563*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R466*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R518*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R215*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R150*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	511					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TTGACAGATGAGACCAACAGG	0.433		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.00361	0	42	8		Valid		
AKAP4	8852	broad.mit.edu	37	X	49957631	49957631	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:49957631A>C	uc004dow.1	-	5	1857	c.1733T>G	c.(1732-1734)ATG>AGG	p.M578R	AKAP4_uc004dov.1_Missense_Mutation_p.M195R|AKAP4_uc010njp.1_Missense_Mutation_p.M400R|AKAP4_uc004dou.1_Missense_Mutation_p.M569R	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	578					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ACTCTGAGCCATATAGCCCAT	0.483		NaN											0	0	0	0.004007	0	16	8				
EIF4G3	8672	broad.mit.edu	37	1	21329220	21329220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:21329220G>A	uc001bec.2	-	3	272	c.16C>T	c.(16-18)CAA>TAA	p.Q6*	EIF4G3_uc010odj.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc009vpz.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bed.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bef.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001bee.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beg.2_Nonsense_Mutation_p.Q6*|EIF4G3_uc010odk.1_Nonsense_Mutation_p.Q6*|EIF4G3_uc001beh.2_Nonsense_Mutation_p.Q6*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	6					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAACGGGTTTGAGGTTGTGAA	0.443		NaN											0	0	0	0.01441	0	70	143				
KIAA1522	57648	broad.mit.edu	37	1	33235330	33235330	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:33235330C>T	uc001bvv.2	+	5	602	c.466C>T	c.(466-468)CGG>TGG	p.R156W	KIAA1522_uc001bvu.1_Missense_Mutation_p.R215W|KIAA1522_uc010ohm.1_Missense_Mutation_p.R167W|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	156	Poly-Arg.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGGCGGCGTCGGCGGGAGCG	0.627		NaN											0	0	0	0.010729	0	9	45				
KIAA1522	57648	broad.mit.edu	37	1	33236198	33236198	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:33236198C>G	uc001bvv.2	+	6	1377	c.1241C>G	c.(1240-1242)TCA>TGA	p.S414*	KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S473*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S425*|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	414	Ser-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCTGAGGCCTCAGACACACTC	0.677		NaN											0	0	0	0.006214	0	7	67				
CYP4B1	1580	broad.mit.edu	37	1	47283813	47283813	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:47283813C>G	uc001cqm.3	+	11	1364	c.1280C>G	c.(1279-1281)TCT>TGT	p.S427C	CYP4B1_uc001cqn.3_Missense_Mutation_p.S428C|CYP4B1_uc009vym.2_Missense_Mutation_p.S413C|CYP4B1_uc010omk.1_Missense_Mutation_p.S264C	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	427					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GTCTTTGACTCTCTGCGCTTT	0.582		NaN											0	0	0	0.007413	0	16	107				
PCSK9	255738	broad.mit.edu	37	1	55521852	55521852	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:55521852C>T	uc001cyf.1	+	6	1277	c.986C>T	c.(985-987)TCA>TTA	p.S329L	PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	329	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCCCCAGCCTCAGCTCCCGAG	0.507		NaN											0	0	0	0.008291	0	8	9				
DEPDC1	55635	broad.mit.edu	37	1	68949729	68949729	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:68949729C>G	uc001dem.3	-	7	931	c.814G>C	c.(814-816)GAA>CAA	p.E272Q	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.E272Q	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	272					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACATCTCGTTCAAATCCAACA	0.294		NaN											0	0	0	0.016723	0	9	29				
LRRIQ3	127255	broad.mit.edu	37	1	74649182	74649182	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:74649182T>C	uc001dfy.3	-	2	379	c.187A>G	c.(187-189)ACA>GCA	p.T63A	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	63	LRR 1.									ovary(2)	2						TGAATATCTGTAATAAaattg	0.154		NaN											0	0	0	0.007413	0	16	18				
RTCD1	8634	broad.mit.edu	37	1	100756986	100756986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:100756986G>C	uc001dtc.2	+	11	1245	c.1027G>C	c.(1027-1029)GAT>CAT	p.D343H	RTCD1_uc001dtd.2_Missense_Mutation_p.D356H	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	343					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		GAAATCAGAAGATGAAGAAGA	0.358		NaN											0	0	0	0.028581	0	13	51				
DCST2	127579	broad.mit.edu	37	1	154995858	154995858	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:154995858C>A	uc001fgm.2	-	13	2026	c.1946G>T	c.(1945-1947)GGG>GTG	p.G649V	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	649	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGTCCCCCTGGTAGGA	0.602		NaN											1	0	2.62699e-14	0.024245	2.79982e-14	11	21				
GBA	2629	broad.mit.edu	37	1	155207361	155207361	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155207361T>A	uc001fjh.2	-	7	920	c.770A>T	c.(769-771)GAT>GTT	p.D257V	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.D144V|GBA_uc010pfx.1_Missense_Mutation_p.D208V|GBA_uc001fji.2_Missense_Mutation_p.D257V|GBA_uc001fjj.2_Missense_Mutation_p.D257V|GBA_uc001fjk.2_Missense_Mutation_p.D257V|GBA_uc001fjl.2_Missense_Mutation_p.D257V|GBA_uc010pfy.1_Missense_Mutation_p.D170V|GBA_uc009wqk.1_Missense_Mutation_p.D170V	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	257					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AGCATAGGCATCCAGGAACCT	0.423		NaN							Gaucher_disease_type_I				0	0	0	0.008871	0	9	13				
ASH1L	55870	broad.mit.edu	37	1	155449087	155449087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155449087G>A	uc009wqq.2	-	3	4054	c.3574C>T	c.(3574-3576)CAT>TAT	p.H1192Y	ASH1L_uc001fkt.2_Missense_Mutation_p.H1192Y|ASH1L_uc009wqr.1_Missense_Mutation_p.H1192Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1192					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCATCACTATGAGACTCACTG	0.443		NaN											0	0	0	0.013726	0	28	47				
ASH1L	55870	broad.mit.edu	37	1	155449222	155449222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:155449222G>A	uc009wqq.2	-	3	3919	c.3439C>T	c.(3439-3441)CAG>TAG	p.Q1147*	ASH1L_uc001fkt.2_Nonsense_Mutation_p.Q1147*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.Q1147*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1147					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCAAGAGTCTGAATCATACTG	0.473		NaN											0	0	0	0.00499	0	16	46				
TNN	63923	broad.mit.edu	37	1	175066815	175066815	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:175066815G>A	uc001gkl.1	+	8	1964	c.1851G>A	c.(1849-1851)CCG>CCA	p.P617P	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	617	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAACGCCCCGACAGGTAACA	0.512		NaN											0	0	0	0.021553	0	4	94				
FAM5B	57795	broad.mit.edu	37	1	177245417	177245417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:177245417G>A	uc001glf.2	+	6	1171	c.859G>A	c.(859-861)GAG>AAG	p.E287K	FAM5B_uc010pna.1_Missense_Mutation_p.E37K|FAM5B_uc001glg.2_Missense_Mutation_p.E182K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	287						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTCTGAGGGTGAGCTCGTCTG	0.572		NaN											0	0	0	0.010504	0	18	54				
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:186276100A>C	uc001gru.3	+	7	1300	c.1249A>C	c.(1249-1251)ACC>CCC	p.T417P	PRG4_uc001grt.3_Missense_Mutation_p.T376P|PRG4_uc009wyl.2_Missense_Mutation_p.T324P|PRG4_uc009wym.2_Missense_Mutation_p.T283P|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	417	9.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCACCACCACCAAGGAGCC	0.652		NaN											0	0	0	0.006214	0	5	105				
CFHR1	3078	broad.mit.edu	37	1	196794771	196794771	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:196794771G>C	uc001gtn.2	+	2	337	c.223G>C	c.(223-225)GAA>CAA	p.E75Q	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	75	Sushi 1.				complement activation	extracellular space					0						ATGCACAGAAGAAGGATGGTC	0.388		NaN											0	0	0	0.008361	0	21	46				
MTR	4548	broad.mit.edu	37	1	236978926	236978926	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr1:236978926A>G	uc001hyi.3	+	7	1055	c.632A>G	c.(631-633)AAT>AGT	p.N211S	MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.N211S|MTR_uc010pxy.1_Missense_Mutation_p.N211S|MTR_uc009xgj.1_Missense_Mutation_p.I42V	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	211	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCACTCCAAAATCTTTTTGAG	0.363		NaN											0	0	0	0.014323	0	17	50				
C10orf18	54906	broad.mit.edu	37	10	5798670	5798670	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:5798670G>A	uc001iij.2	+	16	7326	c.6701G>A	c.(6700-6702)AGA>AAA	p.R2234K	C10orf18_uc001iik.2_Missense_Mutation_p.R1078K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2234										ovary(1)|central_nervous_system(1)	2						ATCATCATCAGAAATGAAGAT	0.393		NaN											0	0	0	0.027356	0	25	46				
WAC	51322	broad.mit.edu	37	10	28897274	28897274	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:28897274C>T	uc001iuf.2	+	8	1164	c.1079C>T	c.(1078-1080)CCA>CTA	p.P360L	WAC_uc001iud.2_Missense_Mutation_p.P315L|WAC_uc001iue.2_Missense_Mutation_p.P50L|WAC_uc009xlb.2_Missense_Mutation_p.P315L|WAC_uc001iug.2_Missense_Mutation_p.P257L|WAC_uc001iuh.2_Missense_Mutation_p.P315L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	360					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						CTTCAGGACCCAAATCTTCTT	0.448		NaN											0	0	0	0.010729	0	11	11				
CHAT	1103	broad.mit.edu	37	10	50873030	50873030	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:50873030G>A	uc001jhz.2	+	15	2338	c.2185G>A	c.(2185-2187)GAG>AAG	p.E729K	CHAT_uc001jhv.1_Missense_Mutation_p.E611K|CHAT_uc001jhx.1_Missense_Mutation_p.E611K|CHAT_uc001jhy.1_Missense_Mutation_p.E611K|CHAT_uc001jia.2_Missense_Mutation_p.E611K|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	729					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCGCCTACTGAGAGCAAGCC	0.522		NaN											0	0	0	0.01441	0	54	60				
HECTD2	143279	broad.mit.edu	37	10	93252132	93252132	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:93252132G>C	uc001khl.2	+	13	1423	c.1323G>C	c.(1321-1323)TTG>TTC	p.L441F	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.L445F|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.L30F|HECTD2_uc001khn.1_Missense_Mutation_p.L91F	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	441	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						GAGCCGATTTGAAAAAGAAGT	0.348		NaN											0	0	0	0.013537	0	12	14				
MYOF	26509	broad.mit.edu	37	10	95123738	95123738	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr10:95123738C>T	uc001kin.2	-	27	2971	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	MYOF_uc001kio.2_Missense_Mutation_p.E937K|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	950	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TAGGTGTCCTCGGCCGGCTTC	0.612		NaN											0	0	0	0.01441	0	70	63				
MUC6	4588	broad.mit.edu	37	11	1017507	1017507	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:1017507G>A	uc001lsw.2	-	31	5345	c.5294C>T	c.(5293-5295)TCT>TTT	p.S1765F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1765	Thr-rich.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGTGGTAGAAGTTGAGGT	0.577		NaN											0	0	0	0.01892	0	19	649				
PDE3B	5140	broad.mit.edu	37	11	14839736	14839736	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:14839736G>A	uc001mln.2	+	6	1883	c.1530G>A	c.(1528-1530)TTG>TTA	p.L510L	PDE3B_uc010rcr.1_Silent_p.L459L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	510					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AAGGTGTTTTGTCCAGTCTGA	0.323		NaN											0	0	0	0.004672	0	3	11				
OR5W2	390148	broad.mit.edu	37	11	55681259	55681259	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:55681259G>A	uc010rir.1	-	1	800	c.800C>T	c.(799-801)TCT>TTT	p.S267F		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTGATCTAGAGAATAGGAAGA	0.438		NaN											0	0	0	0.021553	0	6	36				
SCGB2A1	4246	broad.mit.edu	37	11	61978051	61978051	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:61978051G>A	uc001nta.2	+	2	286	c.222G>A	c.(220-222)CTG>CTA	p.L74L		NM_002407	NP_002398	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1 precursor	74						extracellular region	androgen binding				0						ATAGAACTCTGAAAAACTTTG	0.418		NaN											0	0	0	0.00499	0	15	41				
SLC22A10	387775	broad.mit.edu	37	11	63072221	63072221	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:63072221G>C	uc009yor.2	+	9	1666	c.1458G>C	c.(1456-1458)TTG>TTC	p.L486F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	486	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CTCCCCTCTTGATGACCTTAA	0.408		NaN											0	0	0	0.010729	0	11	68				
C2CD3	26005	broad.mit.edu	37	11	73814325	73814325	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:73814325C>T	uc001ouu.2	-	14	2658	c.2431G>A	c.(2431-2433)GTG>ATG	p.V811M		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	811						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					CCATCTGGCACCATCAACAGC	0.413		NaN											0	0	0	0.01892	0	23	105				
PGM2L1	283209	broad.mit.edu	37	11	74053678	74053678	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:74053678G>A	uc001ovb.1	-	12	1756	c.1460C>T	c.(1459-1461)TCA>TTA	p.S487L		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	487					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					GGAAGTTTTTGAAATATGATA	0.289		NaN											0	0	0	0.016723	0	9	37				
INTS4	92105	broad.mit.edu	37	11	77669853	77669853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:77669853C>T	uc001oys.2	-	7	764	c.736G>A	c.(736-738)GAA>AAA	p.E246K	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.E246K	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	246	HEAT 4.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCACTTGTTCATAGTCATCA	0.428		NaN											0	0	0	0.001984	0	6	31				
SYTL2	54843	broad.mit.edu	37	11	85445049	85445049	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:85445049G>C	uc010rth.1	-	6	1596	c.1320C>G	c.(1318-1320)ATC>ATG	p.I440M	SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	440					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGGTTCATTGATGGTTGGTG	0.383		NaN											0	0	0	0.01441	0	39	80				
NAALAD2	10003	broad.mit.edu	37	11	89885588	89885588	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:89885588G>A	uc001pdf.3	+	6	841	c.732G>A	c.(730-732)CAG>CAA	p.Q244Q	NAALAD2_uc009yvx.2_Silent_p.Q244Q|NAALAD2_uc009yvy.2_Silent_p.Q244Q|NAALAD2_uc001pdd.2_Silent_p.Q244Q|NAALAD2_uc001pde.2_Silent_p.Q244Q	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	244	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGCAGCCCAGAGAGGAAATG	0.473		NaN											0	0	0	0.006122	0	14	72				
CASP4	837	broad.mit.edu	37	11	104815563	104815563	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:104815563C>G	uc001pid.1	-	8	1124	c.1051G>C	c.(1051-1053)GAA>CAA	p.E351Q	CASP4_uc001pib.1_Missense_Mutation_p.E295Q|CASP4_uc009yxg.1_Missense_Mutation_p.E260Q	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	351					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CTTGGAGTTTCAAATGATTGC	0.403		NaN											0	0	0	0.001984	0	5	27				
GLB1L3	112937	broad.mit.edu	37	11	134180464	134180464	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:134180464G>C	uc009zdf.2	+	12	1460	c.1100_splice	c.e12-1	p.D367_splice	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_Splice_Site	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3						carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGTCTTGCAGACTATGATGC	0.522		NaN											0	0	0	0.00308	0	6	17				
CHD4	1108	broad.mit.edu	37	12	6705273	6705273	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:6705273C>G	uc001qpo.2	-	13	2087	c.1923G>C	c.(1921-1923)TTG>TTC	p.L641F	CHD4_uc001qpn.2_Missense_Mutation_p.L634F|CHD4_uc001qpp.2_Missense_Mutation_p.L638F	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	641	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCACTTGATCAAGTAGTGGA	0.507		NaN											0	0	0	0.013726	0	31	75				
CHD4	1108	broad.mit.edu	37	12	6705294	6705294	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:6705294C>G	uc001qpo.2	-	13	2066	c.1902G>C	c.(1900-1902)AAG>AAC	p.K634N	CHD4_uc001qpn.2_Missense_Mutation_p.K627N|CHD4_uc001qpp.2_Missense_Mutation_p.K631N	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	634	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGTGGCCCTTCTTGTCCACAC	0.507		NaN											0	0	0	0.007291	0	27	65				
CD163	9332	broad.mit.edu	37	12	7640120	7640120	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:7640120C>A	uc001qsz.3	-	8	2013	c.1885G>T	c.(1885-1887)GCC>TCC	p.A629S	CD163_uc001qta.3_Missense_Mutation_p.A629S|CD163_uc009zfw.2_Missense_Mutation_p.A662S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	629	SRCR 6.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GTAGAAAGGGCAACTCCACAT	0.507		NaN											1	0	2.61193e-14	0.009535	2.79603e-14	28	116				
APOBEC1	339	broad.mit.edu	37	12	7805382	7805382	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:7805382G>T	uc001qtb.2	-	3	128	c.94C>A	c.(94-96)CTT>ATT	p.L32I	APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.L32I	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	32					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						TCTTTACGAAGTTCTCTGGGG	0.478		NaN											1	0	2.24059e-21	0.00632	2.44154e-21	20	54				
PKP2	5318	broad.mit.edu	37	12	32977077	32977077	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:32977077C>T	uc001rlj.3	-	8	1823	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	PKP2_uc001rlk.3_Missense_Mutation_p.A526T|PKP2_uc010skj.1_Missense_Mutation_p.A526T	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	570					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCCCATCAGCGCCAGCAGAA	0.413		NaN											0	0	0	0.021523	0	23	40				
KRT80	144501	broad.mit.edu	37	12	52574698	52574698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:52574698G>A	uc001rzx.2	-	3	657	c.559C>T	c.(559-561)CAG>TAG	p.Q187*	KRT80_uc001rzw.2_Nonsense_Mutation_p.Q124*|KRT80_uc001rzy.2_Nonsense_Mutation_p.Q187*	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	187	Coil 1B.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCAGCTGAACAAAGGTG	0.582		NaN											0	0	0	0.007291	0	24	40				
KRT80	144501	broad.mit.edu	37	12	52574708	52574708	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:52574708G>A	uc001rzx.2	-	3	647	c.549C>T	c.(547-549)TTC>TTT	p.F183F	KRT80_uc001rzw.2_Silent_p.F120F|KRT80_uc001rzy.2_Silent_p.F183F	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	183	Coil 1B.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAACAAAGGTGAACTCCATGT	0.592		NaN											0	0	0	0.008361	0	24	43				
OR9K2	441639	broad.mit.edu	37	12	55523876	55523876	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:55523876C>T	uc010spe.1	+	1	324	c.324C>T	c.(322-324)ATC>ATT	p.I108I		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	108	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						AGGCTATGATCAACTTCTGGT	0.453		NaN											0	0	0	0.028581	0	16	64				
PAN2	9924	broad.mit.edu	37	12	56721825	56721825	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:56721825A>T	uc001skx.2	-	5	978	c.605T>A	c.(604-606)ATG>AAG	p.M202K	PAN2_uc001skz.2_Missense_Mutation_p.M202K|PAN2_uc001sky.2_Missense_Mutation_p.M202K	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	202					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TGTCTGTCTCATGATGGTGAC	0.507		NaN											0	0	0	0.001984	0	6	33				
MON2	23041	broad.mit.edu	37	12	62986494	62986494	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr12:62986494C>G	uc001sre.2	+	35	5510	c.5119C>G	c.(5119-5121)CCA>GCA	p.P1707A	MON2_uc009zqj.2_3'UTR|MON2_uc010ssl.1_Missense_Mutation_p.P1635A|MON2_uc010ssm.1_Missense_Mutation_p.P1678A|MON2_uc010ssn.1_Missense_Mutation_p.P1701A|MON2_uc001srf.2_Missense_Mutation_p.P1470A|MON2_uc001srg.2_Missense_Mutation_p.P576A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1708					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTCATGCAGCCACCAGCATC	0.393		NaN											0	0	0	0.00632	0	23	42				
DOCK9	23348	broad.mit.edu	37	13	99459962	99459962	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr13:99459962C>G	uc001vnt.2	-	50	5567	c.5512G>C	c.(5512-5514)GAT>CAT	p.D1838H	DOCK9_uc001vnw.2_Missense_Mutation_p.D1837H|DOCK9_uc001vnq.2_Missense_Mutation_p.D385H|DOCK9_uc001vnr.2_Missense_Mutation_p.D467H|DOCK9_uc010tin.1_Missense_Mutation_p.D456H|DOCK9_uc001vns.2_Missense_Mutation_p.D373H|DOCK9_uc010tio.1_Missense_Mutation_p.D493H|DOCK9_uc010tip.1_Missense_Mutation_p.D534H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1838	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCAAATTTATCCGAGTACAGT	0.373		NaN											0	0	0	0.008291	0	9	39				
FBN1	2200	broad.mit.edu	37	15	48779383	48779383	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:48779383C>T	uc001zwx.1	-	29	3806	c.3478G>A	c.(3478-3480)GAG>AAG	p.E1160K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1160	EGF-like 18; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACTCAGCTCACATTCATTG	0.468		NaN											0	0	0	0.008291	0	7	63				
FBN1	2200	broad.mit.edu	37	15	48888548	48888548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:48888548C>G	uc001zwx.1	-	6	798	c.470G>C	c.(469-471)GGA>GCA	p.G157A		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	157	EGF-like 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACCTTCCTCCATTGAGACA	0.418		NaN											0	0	0	0.009096	0	3	60				
USP8	9101	broad.mit.edu	37	15	50782585	50782585	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:50782585G>C	uc001zym.3	+	15	2597	c.2097G>C	c.(2095-2097)AAG>AAC	p.K699N	USP8_uc001zyl.3_Missense_Mutation_p.K699N|USP8_uc001zyn.3_Missense_Mutation_p.K699N|USP8_uc010ufh.1_Missense_Mutation_p.K593N|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	699					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATAAAGCCAAGCCACAGATTC	0.498		NaN											0	0	0	0.010504	0	17	64				
SNX22	79856	broad.mit.edu	37	15	64446167	64446167	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:64446167C>T	uc002anc.1	+	6	485	c.426C>T	c.(424-426)TTC>TTT	p.F142F	SNX22_uc002amz.1_Silent_p.F114F|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	142					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						TCCTGAGCTTCCATGTGGATC	0.612		NaN									OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.011902	0	34	176				
MTFMT	123263	broad.mit.edu	37	15	65316099	65316099	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:65316099C>T	uc002aof.3	-	3	479	c.453G>A	c.(451-453)CCG>CCA	p.P151P		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	151						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	CACGCCATCTCGGGAGGCAAC	0.438		NaN											0	0	0	0.014758	0	5	13				
CCDC33	80125	broad.mit.edu	37	15	74554886	74554886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:74554886G>C	uc002axo.2	+	3	685	c.291G>C	c.(289-291)GAG>GAC	p.E97D		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	300	C2.						protein binding			ovary(3)|skin(2)	5						TGAATGTGGAGATCCAAGCTG	0.572		NaN											0	0	0	0.010729	0	10	12				
FAH	2184	broad.mit.edu	37	15	80465390	80465390	+	Silent	SNP	C	C	T	rs145851627		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:80465390C>T	uc002bfj.2	+	10	823	c.741C>T	c.(739-741)CTC>CTT	p.L247L	FAH_uc002bfk.1_Silent_p.L247L|FAH_uc002bfm.1_Silent_p.L247L|FAH_uc002bfn.1_Silent_p.L177L	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	247					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						ATGTCCCTCTCGGGCCATTCC	0.572		NaN							Tyrosinemia_type_1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	21	88				
IGF1R	3480	broad.mit.edu	37	15	99452048	99452048	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:99452048G>A	uc002bul.2	+	6	1432	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	IGF1R_uc010urq.1_Missense_Mutation_p.R461H|IGF1R_uc010bon.2_Missense_Mutation_p.R461H|IGF1R_uc010urr.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	461					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAAATTTACCGCATGGAGGAA	0.498		NaN											0	0	0	0.014758	0	3	25				
SRRM2	23524	broad.mit.edu	37	16	2813668	2813668	+	Missense_Mutation	SNP	G	G	A	rs150618420	by1000genomes	TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:2813668G>A	uc002crk.2	+	11	3688	c.3139G>A	c.(3139-3141)GAG>AAG	p.E1047K	SRRM2_uc002crj.1_Missense_Mutation_p.E951K|SRRM2_uc002crl.1_Missense_Mutation_p.E1047K|SRRM2_uc010bsu.1_Missense_Mutation_p.E951K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1047	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ACCACCAGGCGAGAGCTATTT	0.468		NaN											0	0	0	0.024245	0	12	83				
MMP25	64386	broad.mit.edu	37	16	3100442	3100442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:3100442G>A	uc002cth.2	+	4	793	c.556G>A	c.(556-558)GAC>AAC	p.D186N	MMP25_uc002cti.1_Missense_Mutation_p.D122N	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	186					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CTACCCCTTCGACGGGTTGGG	0.622		NaN											0	0	0	0.007835	0	34	62				
RBBP6	5930	broad.mit.edu	37	16	24583041	24583041	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:24583041A>G	uc002dmh.2	+	18	5694	c.4654A>G	c.(4654-4656)AAA>GAA	p.K1552E	RBBP6_uc002dmi.2_Missense_Mutation_p.K1518E|RBBP6_uc010bxr.2_Missense_Mutation_p.K712E|RBBP6_uc002dmk.2_Missense_Mutation_p.K1385E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1552					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TTATGATACTAAACGGCCAAA	0.368		NaN											0	0	0	0.024245	0	13	33				
HS3ST4	9951	broad.mit.edu	37	16	26147147	26147147	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:26147147A>C	uc002dof.2	+	2	1341	c.949A>C	c.(949-951)AAA>CAA	p.K317Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	317	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GCTGGCCTTCAAAAACCGGAC	0.547		NaN											0	0	0	0.01441	0	72	170				
PHKG2	5261	broad.mit.edu	37	16	30764566	30764566	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:30764566G>A	uc002dzk.1	+	5	433	c.340G>A	c.(340-342)GAG>AAG	p.E114K	PHKG2_uc002dzi.1_Missense_Mutation_p.E114K|PHKG2_uc002dzj.1_Missense_Mutation_p.E12K	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	114	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			GCGGAAGGGAGAGCTGTTTGA	0.552		NaN											0	0	0	0.028581	0	13	39				
ZNF646	9726	broad.mit.edu	37	16	31090265	31090265	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:31090265G>A	uc002eap.2	+	2	2909	c.2620G>A	c.(2620-2622)GAG>AAG	p.E874K		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TAGGCCTGGGGAGGCGACCTC	0.647		NaN											0	0	0	0.015359	0	33	87				
ZNF646	9726	broad.mit.edu	37	16	31090309	31090309	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:31090309G>C	uc002eap.2	+	2	2953	c.2664G>C	c.(2662-2664)ATG>ATC	p.M888I		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	888	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TCTGTGGCATGATCTTCCCTG	0.637		NaN											0	0	0	0.00499	0	16	59				
NOB1	28987	broad.mit.edu	37	16	69776286	69776286	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:69776286C>T	uc002exs.2	-	9	1204	c.1188G>A	c.(1186-1188)CGG>CGA	p.R396R		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	396						nucleus	metal ion binding|protein binding				0						TTAAGCGTCTCCGCCCAGCTC	0.587		NaN											0	0	0	0.020292	0	11	37				
PDPR	55066	broad.mit.edu	37	16	70190728	70190728	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr16:70190728C>T	uc002eyf.1	+	19	3543	c.2586C>T	c.(2584-2586)TTC>TTT	p.F862F	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.F762F|PDPR_uc002eyg.1_Silent_p.F529F|PDPR_uc002eyh.2_Silent_p.F207F|PDPR_uc010vls.1_Silent_p.F207F	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	862					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCTCCCTCTTCACCCAGAAGC	0.562		NaN											0	0	0	0.021553	0	4	30				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:7578275G>A	uc002gim.2	-	6	768	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	192	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006122	0	15	32		Valid		
TRPV2	51393	broad.mit.edu	37	17	16326850	16326850	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:16326850C>A	uc002gpy.2	+	5	1060	c.693C>A	c.(691-693)AAC>AAA	p.N231K	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	231	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCCTGGAGAACCCACACCAGC	0.607		NaN											1	0	7.53189e-24	0.007835	8.28168e-24	37	56				
NF1	4763	broad.mit.edu	37	17	29701127	29701127	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:29701127G>C	uc002hgg.2	+	58	8807	c.8474G>C	c.(8473-8475)AGA>ACA	p.R2825T	NF1_uc002hgh.2_Missense_Mutation_p.R2804T|NF1_uc010cso.2_Missense_Mutation_p.R1031T|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2825					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAGCAAAGAAGCGCTGGC	0.468		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.010729	0	9	49		Valid		
LIG3	3980	broad.mit.edu	37	17	33318055	33318055	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:33318055G>C	uc002hik.1	+	5	1071	c.963G>C	c.(961-963)TTG>TTC	p.L321F	LIG3_uc002hij.2_Missense_Mutation_p.L321F|LIG3_uc010cth.1_Missense_Mutation_p.L330F	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	321					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	TTTACAACTTGAACGATAAGC	0.488		NaN						Other_BER_factors					0	0	0	0.027894	0	35	66				
SLFN5	162394	broad.mit.edu	37	17	33586688	33586688	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:33586688G>C	uc002hjf.3	+	2	1096	c.979G>C	c.(979-981)GAA>CAA	p.E327Q	SLFN5_uc002hje.2_Missense_Mutation_p.E327Q|SLFN5_uc010wcg.1_Missense_Mutation_p.E327Q	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	327					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GCCCACAAGAGAATGGACTGC	0.517		NaN											0	0	0	0.009535	0	29	107				
HSD17B1	3292	broad.mit.edu	37	17	40705230	40705230	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:40705230G>A	uc002hzw.2	+	2	1154	c.186G>A	c.(184-186)ACG>ACA	p.T62T	HSD17B1_uc002hzx.2_Silent_p.T62T|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.N117N|HSD17B1_uc010cyi.2_Silent_p.T93T	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	62					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	CCCTGGAGACGTTGCAGCTGG	0.647		NaN											0	0	0	0.01441	0	37	77				
HEXIM1	10614	broad.mit.edu	37	17	43226833	43226833	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:43226833G>C	uc002iig.2	+	1	2150	c.276G>C	c.(274-276)CAG>CAC	p.Q92H		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	92					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						AGAAGGGCCAGAATGGGGACG	0.682		NaN									OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	29				
HEXIM1	10614	broad.mit.edu	37	17	43227260	43227260	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:43227260G>T	uc002iig.2	+	1	2577	c.703G>T	c.(703-705)GAC>TAC	p.D235Y		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	235	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CAAATCCGACGACACCAGCGA	0.612		NaN											1	0	1.37522e-17	0.007413	1.48524e-17	14	73				
LRRC37A2	474170	broad.mit.edu	37	17	44626216	44626216	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:44626216C>T	uc002ikn.1	+	9	3714	c.3711C>T	c.(3709-3711)TTC>TTT	p.F1237F	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F198F|LRRC37A2_uc010dax.1_Silent_p.F167F	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1237	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGCCTTCCTTCACCCAAGAGC	0.592		NaN											0	0	0	0.007413	0	15	129				
DLX4	1748	broad.mit.edu	37	17	48047109	48047109	+	Missense_Mutation	SNP	G	G	A	rs145736583		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:48047109G>A	uc002ipv.2	+	1	548	c.277G>A	c.(277-279)GAG>AAG	p.E93K		NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	93				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCAGGAACTCGAGGCAGGTAA	0.667		NaN											0	0	0	0.020292	0	14	108				
TOB1	10140	broad.mit.edu	37	17	48941096	48941096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:48941096C>T	uc002isw.2	-	1	318	c.283G>A	c.(283-285)GAC>AAC	p.D95N	TOB1_uc010wmy.1_Missense_Mutation_p.D95N|TOB1_uc010wmz.1_Missense_Mutation_p.D95N	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	95					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCAAATGGGTCGATCCAAACA	0.428		NaN									OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	7	73				
AKAP1	8165	broad.mit.edu	37	17	55183156	55183156	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:55183156C>T	uc002iux.2	+	2	562	c.331C>T	c.(331-333)CTT>TTT	p.L111F	AKAP1_uc010wnl.1_Missense_Mutation_p.L111F|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.L111F	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	111					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					CTCGGGCATTCTTCCTAACAC	0.547		NaN											0	0	0	0.015359	0	34	55				
VEZF1	7716	broad.mit.edu	37	17	56056663	56056663	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:56056663C>T	uc002ivf.1	-	5	1131	c.988G>A	c.(988-990)GAA>AAA	p.E330K	VEZF1_uc010dcn.1_Missense_Mutation_p.E180K	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	330					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CTGGTCTCTTCACTCATGCAT	0.284		NaN											0	0	0	0.027356	0	25	49				
NUP85	79902	broad.mit.edu	37	17	73231253	73231253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73231253C>G	uc002jng.1	+	18	2086	c.1826C>G	c.(1825-1827)TCA>TGA	p.S609*	NUP85_uc010dgd.1_Nonsense_Mutation_p.S564*|NUP85_uc010wrv.1_Nonsense_Mutation_p.S563*|NUP85_uc002jnh.1_Nonsense_Mutation_p.S212*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	609					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GACTTGACGTCAAGAAGACCT	0.522		NaN											0	0	0	0.020292	0	8	75				
ITGB4	3691	broad.mit.edu	37	17	73738710	73738710	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73738710G>A	uc002jpg.2	+	25	3017	c.2830G>A	c.(2830-2832)GTA>ATA	p.V944I	ITGB4_uc002jph.2_Missense_Mutation_p.V944I|ITGB4_uc002jpi.3_Missense_Mutation_p.V944I|ITGB4_uc010dgp.1_Missense_Mutation_p.R956H|ITGB4_uc002jpj.2_Missense_Mutation_p.V944I	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	944	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGTGGACGTACGGGTGCC	0.692		NaN											0	0	0	0.021553	0	4	120				
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:76547693C>T	uc002jvv.1	-	12	1527	c.1421G>A	c.(1420-1422)CGA>CAA	p.R474Q						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.338		NaN											0	0	0	0.006214	0	7	76				
SLC38A10	124565	broad.mit.edu	37	17	79256117	79256117	+	Missense_Mutation	SNP	G	G	A	rs141053452	byFrequency	TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:79256117G>A	uc002jzz.1	-	5	748	c.373C>T	c.(373-375)CGC>TGC	p.R125C	SLC38A10_uc002jzy.1_Missense_Mutation_p.R43C|SLC38A10_uc002kab.2_Missense_Mutation_p.R125C	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	125	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGAACATGCGGAAGGTGCCG	0.682		NaN											0	0	0	0.006214	0	9	16				
PHLPP1	23239	broad.mit.edu	37	18	60642723	60642723	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr18:60642723G>C	uc002lis.2	+	17	2491	c.2313G>C	c.(2311-2313)TTG>TTC	p.L771F		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1283	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CCTTCACCTTGACCTCTGCTA	0.507		NaN											0	0	0	0.009535	0	27	91				
KDM4B	23030	broad.mit.edu	37	19	5135468	5135468	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:5135468C>G	uc002mbq.3	+	15	2430	c.2204C>G	c.(2203-2205)TCT>TGT	p.S735C	KDM4B_uc010xim.1_Missense_Mutation_p.S769C|KDM4B_uc002mbr.3_Missense_Mutation_p.S493C	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	735	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						TGCTTCACCTCTGGCGGTGAG	0.642		NaN											0	0	0	0.016723	0	13	37				
PTPRS	5802	broad.mit.edu	37	19	5244216	5244216	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:5244216G>A	uc002mbv.2	-	11	1500	c.1266C>T	c.(1264-1266)GGC>GGT	p.G422G	PTPRS_uc002mbu.1_Silent_p.G409G|PTPRS_uc010xin.1_Silent_p.G409G|PTPRS_uc002mbw.2_Silent_p.G409G|PTPRS_uc002mbx.2_Silent_p.G413G|PTPRS_uc002mby.2_Silent_p.G409G	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	422	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGCCTGCTCGCCTGTGCGGG	0.711		NaN											0	0	0	0.014323	0	21	86				
MUC16	94025	broad.mit.edu	37	19	9077046	9077046	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:9077046C>G	uc002mkp.2	-	3	10604	c.10400G>C	c.(10399-10401)GGA>GCA	p.G3467A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3468	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCTTGGTCTCCAGAGGGCAG	0.507		NaN											0	0	0	0.001984	0	5	24				
NCAN	1463	broad.mit.edu	37	19	19339025	19339025	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:19339025G>A	uc002nlz.2	+	8	2695	c.2596G>A	c.(2596-2598)GAT>AAT	p.D866N	NCAN_uc010ecc.1_Missense_Mutation_p.D430N	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	866					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GGTGGCCCTGGATACAAGCAT	0.597		NaN											0	0	0	0.007291	0	22	96				
ZNF257	113835	broad.mit.edu	37	19	22271465	22271465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:22271465C>T	uc010ecx.2	+	4	1082	c.913C>T	c.(913-915)CAA>TAA	p.Q305*	ZNF257_uc010ecy.2_Nonsense_Mutation_p.Q273*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	305	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCCTTACTCAACATAAGAG	0.393		NaN											0	0	0	0.006214	0	9	29				
PSG3	5671	broad.mit.edu	37	19	43236936	43236936	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:43236936G>A	uc002oue.2	-	3	841	c.709C>T	c.(709-711)CCG>TCG	p.P237S	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.P259S	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	237					defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.542		NaN											0	0	0	0.01441	0	141	277				
CCDC61	729440	broad.mit.edu	37	19	46509948	46509948	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:46509948C>G	uc002pdw.2	+	5	534	c.534C>G	c.(532-534)ATC>ATG	p.I178M		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GCTACCTGATCCTCATCTACT	0.652		NaN											0	0	0	0.01441	0	58	110				
GRIN2D	2906	broad.mit.edu	37	19	48945175	48945175	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:48945175G>A	uc002pjc.3	+	11	2490	c.2402G>A	c.(2401-2403)CGG>CAG	p.R801Q	GRIN2D_uc010elx.2_Missense_Mutation_p.R36Q	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	801	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGCTGGAAGCGGCCCATCGAC	0.627		NaN											0	0	0	0.009096	0	3	37				
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:24260579G>C	uc002rep.2	-	2	1917	c.1786C>G	c.(1786-1788)CAA>GAA	p.Q596E	C2orf44_uc010eya.2_Missense_Mutation_p.Q596E	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	596							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGATCTTGAGAGAGTGGA	0.403		NaN											0	0	0	0.010771	0	34	91				
SPTBN1	6711	broad.mit.edu	37	2	54855387	54855387	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:54855387G>A	uc002rxu.2	+	13	2047	c.1798G>A	c.(1798-1800)GGT>AGT	p.G600S	SPTBN1_uc002rxv.1_Missense_Mutation_p.G600S|SPTBN1_uc002rxx.2_Missense_Mutation_p.G587S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	600	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGACGGGGAAGGTAAGGATGG	0.507		NaN											0	0	0	0.009096	0	3	47				
CCDC88A	55704	broad.mit.edu	37	2	55522809	55522809	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:55522809C>G	uc002ryv.2	-	31	6314	c.5472G>C	c.(5470-5472)TTG>TTC	p.L1824F	CCDC88A_uc010yoz.1_Missense_Mutation_p.L1797F|CCDC88A_uc010ypa.1_Missense_Mutation_p.L1750F|CCDC88A_uc002ryt.2_Missense_Mutation_p.L115F|CCDC88A_uc010fbw.2_Missense_Mutation_p.L326F|CCDC88A_uc002ryu.2_Missense_Mutation_p.L1079F|CCDC88A_uc002rys.2_Missense_Mutation_p.L782F|CCDC88A_uc002ryw.2_Missense_Mutation_p.L1108F|CCDC88A_uc010fby.1_Missense_Mutation_p.L676F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1825					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGTCCTTGGTCAAAAAATCAT	0.458		NaN											0	0	0	0.01441	0	43	147				
FBXO48	554251	broad.mit.edu	37	2	68692016	68692016	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:68692016G>C	uc002seo.2	-	3	670	c.262C>G	c.(262-264)CGA>GGA	p.R88G	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.2_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	F-box protein 48	88											0						ATTTCTCTTCGGCACACAGCT	0.428		NaN											0	0	0	0.00632	0	23	140				
GPR45	11250	broad.mit.edu	37	2	105858447	105858447	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:105858447G>A	uc002tco.1	+	1	248	c.132G>A	c.(130-132)ATG>ATA	p.M44I		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	44	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TGCTGCTGATGACCGTGGTGG	0.617		NaN											0	0	0	0.01441	0	74	193				
FMNL2	114793	broad.mit.edu	37	2	153483060	153483060	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:153483060G>C	uc002tye.2	+	17	2351	c.1984G>C	c.(1984-1986)GAG>CAG	p.E662Q	FMNL2_uc010fob.2_Missense_Mutation_p.E118Q|FMNL2_uc002tyf.2_Missense_Mutation_p.E111Q	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	662	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						GGATGAATTTGAGGAAATATT	0.358		NaN											0	0	0	0.014758	0	5	9				
AGPS	8540	broad.mit.edu	37	2	178402841	178402841	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:178402841C>G	uc002ull.2	+	20	1942	c.1895C>G	c.(1894-1896)TCT>TGT	p.S632C	AGPS_uc010zfb.1_Missense_Mutation_p.S542C	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	632					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAAAGTATCTCTGATGTCGGC	0.378		NaN											0	0	0	0.00632	0	25	64				
TTN	7273	broad.mit.edu	37	2	179436844	179436844	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:179436844G>T	uc010zfg.1	-	275	66535	c.66311C>A	c.(66310-66312)ACT>AAT	p.T22104N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15799N|TTN_uc010zfi.1_Missense_Mutation_p.T15732N|TTN_uc010zfj.1_Missense_Mutation_p.T15607N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23031							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGGCTTCAGTGACCTTGAC	0.478		NaN											1	0	1.02788e-11	0.00499	1.08598e-11	13	22				
WDR75	84128	broad.mit.edu	37	2	190334854	190334854	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:190334854C>G	uc002uql.1	+	17	1932	c.1872C>G	c.(1870-1872)ATC>ATG	p.I624M	WDR75_uc002uqm.1_Missense_Mutation_p.I560M|WDR75_uc002uqn.1_Missense_Mutation_p.I402M|WDR75_uc002uqo.1_Missense_Mutation_p.I402M	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	624						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAAGGGTATCTCCAGAGAGA	0.403		NaN											0	0	0	0.01441	0	47	87				
CCDC150	284992	broad.mit.edu	37	2	197590756	197590756	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:197590756C>A	uc002utp.1	+	22	2624	c.2489C>A	c.(2488-2490)GCT>GAT	p.A830D	CCDC150_uc010zgs.1_Missense_Mutation_p.A477D|CCDC150_uc010zgt.1_Missense_Mutation_p.A247D|CCDC150_uc002utq.1_Missense_Mutation_p.A145D|CCDC150_uc002utr.1_Missense_Mutation_p.A145D	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	830	Potential.										0						CGCATAGAAGCTCTAAGAAAG	0.423		NaN											1	0	1.06961e-07	0.00308	1.11552e-07	7	16				
PARD3B	117583	broad.mit.edu	37	2	205983760	205983760	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:205983760A>C	uc002var.1	+	7	1003	c.796A>C	c.(796-798)ACC>CCC	p.T266P	PARD3B_uc010fub.1_Missense_Mutation_p.T266P|PARD3B_uc002vao.1_Missense_Mutation_p.T266P|PARD3B_uc002vap.1_Missense_Mutation_p.T266P|PARD3B_uc002vaq.1_Missense_Mutation_p.T266P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	266	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGTAGACAAAACCTTTGCTCA	0.363		NaN											0	0	0	0.010504	0	17	65				
IDH1	3417	broad.mit.edu	37	2	209104705	209104705	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:209104705C>T	uc002vcs.2	-	8	1119	c.873G>A	c.(871-873)ATG>ATA	p.M291I	IDH1_uc002vct.2_Missense_Mutation_p.M291I|IDH1_uc002vcu.2_Missense_Mutation_p.M291I	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	291					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCACGCTGGTCATCATGCCGA	0.527		NaN	Mis		gliobastoma 								0	0	0	0.007413	0	15	60				
SPEG	10290	broad.mit.edu	37	2	220309874	220309874	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:220309874C>G	uc010fwg.2	+	3	806	c.806C>G	c.(805-807)TCT>TGT	p.S269C	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	269					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCGCTCTCTATCCACGTG	0.612		NaN											0	0	0	0.004672	0	3	8				
MFF	56947	broad.mit.edu	37	2	228194464	228194464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:228194464G>A	uc002vos.2	+	3	421	c.3G>A	c.(1-3)ATG>ATA	p.M1I	MFF_uc002vot.2_Intron|MFF_uc002vou.2_Missense_Mutation_p.M1I|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Intron|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Missense_Mutation_p.M1I|MFF_uc002voz.2_Intron	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	1	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						GTATTTAAATGAGTAAAGGAA	0.343		NaN											0	0	0	0.012319	0	17	53				
THAP4	51078	broad.mit.edu	37	2	242572898	242572898	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr2:242572898C>T	uc002wbt.2	-	2	897	c.674G>A	c.(673-675)GGA>GAA	p.G225E		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	225							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGCCCCAGATCCTGGGGGCGT	0.557		NaN											0	0	0	0.008361	0	28	63				
C20orf96	140680	broad.mit.edu	37	20	259903	259903	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:259903G>A	uc002wde.1	-	5	514	c.375C>T	c.(373-375)CTC>CTT	p.L125L	C20orf96_uc002wdc.2_Silent_p.L72L|C20orf96_uc002wdd.2_Silent_p.L90L|C20orf96_uc010zpi.1_Silent_p.L72L|C20orf96_uc010zpj.1_Silent_p.L90L|C20orf96_uc010zpk.1_Silent_p.L63L	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	hypothetical protein LOC140680	125	Potential.										0		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTCCCGGTTGAGCTTGCTGA	0.672		NaN											0	0	0	0.027356	0	23	187				
SLC32A1	140679	broad.mit.edu	37	20	37357147	37357147	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:37357147C>T	uc002xjc.2	+	2	1706	c.1443C>T	c.(1441-1443)CTC>CTT	p.L481L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	481	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCGCCTGCTCTGGCGCAAGC	0.647		NaN											0	0	0	0.021553	0	5	70				
CDH26	60437	broad.mit.edu	37	20	58545159	58545159	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr20:58545159G>A	uc002ybe.2	+	3	449	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	50	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAGCCTCTACGGCGATCCAAG	0.498		NaN											0	0	0	0.01441	0	42	98				
SFRS15	57466	broad.mit.edu	37	21	33043774	33043774	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr21:33043774C>T	uc002ypd.2	-	20	3808	c.3382G>A	c.(3382-3384)GAG>AAG	p.E1128K	SFRS15_uc002ype.2_Missense_Mutation_p.E1106K|SFRS15_uc010glu.2_Missense_Mutation_p.E1113K	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1128						nucleus	nucleotide binding|RNA binding				0						GAGGTAGCCTCAGCAGGTAAC	0.498		NaN											0	0	0	0.028581	0	12	36				
DSCAM	1826	broad.mit.edu	37	21	41450881	41450881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr21:41450881C>T	uc002yyq.1	-	26	4896	c.4444G>A	c.(4444-4446)GAG>AAG	p.E1482K	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1482	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAAACAGCTCCTGCTCCTTT	0.582		NaN											0	0	0	0.007291	0	19	47				
NIPSNAP1	8508	broad.mit.edu	37	22	29957498	29957498	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:29957498G>C	uc003afx.3	-	6	649	c.576C>G	c.(574-576)CTC>CTG	p.L192L	NIPSNAP1_uc011akp.1_Silent_p.L172L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	192								p.?(1)		skin(1)	1						GAGGCACCTTGAGCTTGTATG	0.577		NaN											0	0	0	0.01441	0	44	83				
GATSL3	652968	broad.mit.edu	37	22	30682066	30682066	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:30682066C>T	uc003ahd.2	-	7	895	c.765G>A	c.(763-765)CTG>CTA	p.L255L	GATSL3_uc003ahc.2_Silent_p.L217L|GATSL3_uc003ahe.2_Silent_p.L218L|GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.L390L	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	255										breast(1)	1						AGGAGCTGGTCAGCAGGAGGT	0.672		NaN											0	0	0	0.021553	0	4	21				
DEPDC5	9681	broad.mit.edu	37	22	32242914	32242914	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:32242914C>T	uc003als.2	+	31	3231	c.3089C>T	c.(3088-3090)TCA>TTA	p.S1030L	DEPDC5_uc011als.1_Missense_Mutation_p.S961L|DEPDC5_uc011alu.1_Missense_Mutation_p.S1039L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1030L|DEPDC5_uc003alu.2_Missense_Mutation_p.S479L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S360L|DEPDC5_uc003alw.2_Missense_Mutation_p.S328L|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S34L	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1030					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						AAGGGAACCTCAGCTCTCTCT	0.552		NaN											0	0	0	0.028581	0	14	68				
ANKRD54	129138	broad.mit.edu	37	22	38234561	38234561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:38234561C>T	uc003auc.2	-	3	479	c.421G>A	c.(421-423)GAC>AAC	p.D141N	ANKRD54_uc003aud.2_Missense_Mutation_p.D18N	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	141											0	Melanoma(58;0.045)					CGGCCCTTGTCATCAGCTGCA	0.577		NaN											0	0	0	0.010729	0	9	23				
PIM3	415116	broad.mit.edu	37	22	50356727	50356727	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:50356727C>G	uc003bjb.2	+	6	1386	c.933C>G	c.(931-933)CTC>CTG	p.L311L	PIM3_uc011arj.1_Silent_p.L74L	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	311					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TGTGCACCCTCGACCCTGATG	0.677		NaN											0	0	0	0.00308	0	7	22				
PLXNB2	23654	broad.mit.edu	37	22	50714172	50714172	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr22:50714172C>G	uc003bkv.3	-	37	5584	c.5478G>C	c.(5476-5478)CAG>CAC	p.Q1826H	PLXNB2_uc003bkt.1_Missense_Mutation_p.Q618H|PLXNB2_uc003bku.1_Missense_Mutation_p.Q811H	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1826	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCGGCAATCTGCTGCAGGC	0.597		NaN									OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	10	55				
ATP2B2	491	broad.mit.edu	37	3	10401790	10401790	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:10401790G>C	uc003bvt.2	-	13	2116	c.1677C>G	c.(1675-1677)GGC>GGG	p.G559G	ATP2B2_uc003bvv.2_Silent_p.G514G|ATP2B2_uc003bvw.2_Silent_p.G514G|ATP2B2_uc010hdo.2_Silent_p.G264G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	559	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GAGGCAGGGCGCCCTCCTTCT	0.687		NaN											0	0	0	0.00874	0	30	53				
ULK4	54986	broad.mit.edu	37	3	41961238	41961238	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:41961238A>G	uc003ckv.3	-	6	815	c.614T>C	c.(613-615)TTG>TCG	p.L205S	ULK4_uc003ckw.2_Missense_Mutation_p.L205S|ULK4_uc003ckx.1_Missense_Mutation_p.L205S	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	205	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGACAGCCCAAAGACCAGAG	0.413		NaN											0	0	0	0.019004	0	26	83				
LTF	4057	broad.mit.edu	37	3	46497843	46497843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:46497843C>T	uc003cpq.2	-	3	291	c.253G>A	c.(253-255)GAG>AAG	p.E85K	LTF_uc003fzr.2_Missense_Mutation_p.E41K|LTF_uc010hjh.2_Missense_Mutation_p.E85K|LTF_uc003cpr.2_Missense_Mutation_p.E72K	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	85	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGGCCTGCCTCGTATATGAAA	0.577		NaN											0	0	0	0.019004	0	25	84				
PLXNB1	5364	broad.mit.edu	37	3	48465275	48465275	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:48465275G>A	uc003csw.2	-	3	1016	c.746C>T	c.(745-747)TCT>TTT	p.S249F	PLXNB1_uc003csu.2_Missense_Mutation_p.S249F|PLXNB1_uc003csx.2_Missense_Mutation_p.S249F|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	249	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACACTCGAGATACATAGGC	0.612		NaN											0	0	0	0.027894	0	36	74				
SEMA3F	6405	broad.mit.edu	37	3	50220147	50220147	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:50220147C>T	uc003cyj.2	+	9	1032	c.834C>T	c.(832-834)TTC>TTT	p.F278F	SEMA3F_uc003cyk.2_Silent_p.F247F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	278	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTTACTTCTTCTTCCGTGAGC	0.627		NaN											0	0	0	0.01441	0	47	75				
ADAMTS9	56999	broad.mit.edu	37	3	64536627	64536627	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:64536627G>A	uc003dmg.2	-	31	4842	c.4810C>T	c.(4810-4812)CGT>TGT	p.R1604C	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1576C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1433C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R515C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1604	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCTTTCACGGTCCACCGGC	0.572		NaN											0	0	0	0.01441	0	111	113				
ADAMTS9	56999	broad.mit.edu	37	3	64599095	64599095	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:64599095C>T	uc003dmg.2	-	22	3312	c.3280G>A	c.(3280-3282)GAG>AAG	p.E1094K	ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1066K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E923K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E5K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1094	TSP type-1 5.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCTTGGTCTCAGGGTCACAC	0.488		NaN											0	0	0	0.010504	0	17	102				
FAM162A	26355	broad.mit.edu	37	3	122123148	122123148	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:122123148G>A	uc003eez.2	+	3	291	c.201G>A	c.(199-201)CAG>CAA	p.Q67Q	FAM162A_uc011bjq.1_Silent_p.Q67Q	NM_014367	NP_055182	Q96A26	F162A_HUMAN	growth and transformation-dependent protein	67						integral to membrane				ovary(1)	1						CGGATTGGCAGAAAAAGATCC	0.373		NaN											0	0	0	0.008291	0	9	20				
UROC1	131669	broad.mit.edu	37	3	126202223	126202223	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:126202223C>G	uc003eiz.1	-	19	1911	c.1879G>C	c.(1879-1881)GTC>CTC	p.V627L	UROC1_uc010hsi.1_Missense_Mutation_p.V687L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	627					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		CCATTGGAGACATCCCAGCTG	0.617		NaN											0	0	0	0.021553	0	6	43				
RAB43	339122	broad.mit.edu	37	3	128853792	128853792	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:128853792G>A	uc003elo.1	-	8	635	c.424C>T	c.(424-426)CCT>TCT	p.P142S	ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.P142S|ISY1_uc010hta.1_Missense_Mutation_p.P164S	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1						CTGGGAGGAGGAAGAGCTATA	0.453		NaN											0	0	0	0.028581	0	14	30				
COL6A6	131873	broad.mit.edu	37	3	130282320	130282320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:130282320G>A	uc010htl.2	+	2	504	c.473G>A	c.(472-474)GGA>GAA	p.G158E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	158	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CGGAAAGACGGAGTGAAAATC	0.498		NaN											0	0	0	0.009096	0	4	30				
PPP2R3A	5523	broad.mit.edu	37	3	135720804	135720804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:135720804C>T	uc003eqv.1	+	2	1029	c.464C>T	c.(463-465)TCA>TTA	p.S155L	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	155					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						AATAGGAGGTCAGTTGATTTG	0.398		NaN											0	0	0	0.001984	0	6	34				
CPA3	1359	broad.mit.edu	37	3	148596524	148596524	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:148596524T>C	uc003ewm.2	+	5	515	c.463T>C	c.(463-465)TAT>CAT	p.Y155H		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	155					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAATCCACTATATGTTCTGAA	0.313		NaN											0	0	0	0.007413	0	16	17				
IGSF10	285313	broad.mit.edu	37	3	151161338	151161338	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:151161338C>G	uc011bod.1	-	5	5397	c.5397G>C	c.(5395-5397)GTG>GTC	p.V1799V	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1799	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGTCAACCGTCACCACAGCCT	0.512		NaN											0	0	0	0.021523	0	22	45				
IGSF10	285313	broad.mit.edu	37	3	151166475	151166475	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:151166475C>G	uc011bod.1	-	4	1294	c.1294G>C	c.(1294-1296)GAC>CAC	p.D432H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	432					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAATTTGGTCTTGCATTAAC	0.428		NaN											0	0	0	0.024245	0	13	22				
PIK3CA	5290	broad.mit.edu	37	3	178928225	178928225	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:178928225C>G	uc003fjk.2	+	9	1568	c.1411C>G	c.(1411-1413)CCA>GCA	p.P471A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	471	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P471A(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTAGGAAACTCCATGCTTAGA	0.368		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.024334	0	26	21		Valid		
TPRG1	285386	broad.mit.edu	37	3	188933083	188933083	+	Silent	SNP	G	G	A	rs141310543		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:188933083G>A	uc003frv.1	+	8	1440	c.213G>A	c.(211-213)CCG>CCA	p.P71P	TPRG1_uc003frw.1_Silent_p.P71P	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	71											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCACACAGCCGGGGGCCATTG	0.488		NaN											0	0	0	0.017118	0	25	23				
CLDN1	9076	broad.mit.edu	37	3	190026071	190026071	+	Missense_Mutation	SNP	C	C	G	rs147881276		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr3:190026071C>G	uc003fsh.2	-	4	851	c.631G>C	c.(631-633)GTG>CTG	p.V211L		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	211	Cytoplasmic (Potential).|Interactions with TJP1, TJP2, TJP3 and INADL (By similarity).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CTGTGTCACACGTAGTCTTTC	0.448		NaN											0	0	0	0.010818	0	22	150				
SLC34A2	10568	broad.mit.edu	37	4	25664188	25664188	+	Silent	SNP	A	A	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:25664188A>G	uc003grr.2	+	2	147	c.66A>G	c.(64-66)GCA>GCG	p.A22A	SLC34A2_uc003grs.2_Silent_p.A22A|SLC34A2_uc010iev.2_Silent_p.A22A	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	22	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				AAGGGGCCGCAGGTCAGCAGC	0.547		NaN											0	0	0	0.014758	0	3	102				
N4BP2	55728	broad.mit.edu	37	4	40146258	40146258	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:40146258C>G	uc003guy.3	+	16	5319	c.4981C>G	c.(4981-4983)CTT>GTT	p.L1661V	N4BP2_uc010ifq.2_Missense_Mutation_p.L1581V|N4BP2_uc010ifr.2_Missense_Mutation_p.L1564V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1661						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TTAGGGTACTCTTCATGAGCA	0.428		NaN											0	0	0	0.007291	0	24	62				
FRAS1	80144	broad.mit.edu	37	4	79462137	79462137	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:79462137G>A	uc003hlb.2	+	74	12338	c.11898G>A	c.(11896-11898)GTG>GTA	p.V3966V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3961	Cytoplasmic (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AGAAGAACGTGAATAGACACT	0.498		NaN											0	0	0	0.00308	0	6	98				
CENPE	1062	broad.mit.edu	37	4	104082321	104082321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:104082321C>T	uc003hxb.1	-	20	2143	c.2053G>A	c.(2053-2055)GAT>AAT	p.D685N	CENPE_uc003hxc.1_Missense_Mutation_p.D660N	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	685	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTCCAGATCAACTTGCATT	0.313		NaN											0	0	0	0.001984	0	6	16				
CENPE	1062	broad.mit.edu	37	4	104082409	104082409	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:104082409C>T	uc003hxb.1	-	20	2056	c.1966_splice	c.e20-1	p.K656_splice	CENPE_uc003hxc.1_Splice_Site_p.K631_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAGTTCTTTCTATTGAGAAA	0.303		NaN											0	0	0	0.009096	0	3	13				
SEC24B	10427	broad.mit.edu	37	4	110415839	110415839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:110415839C>T	uc003hzk.2	+	6	1370	c.1315C>T	c.(1315-1317)CCA>TCA	p.P439S	SEC24B_uc003hzl.2_Missense_Mutation_p.P404S|SEC24B_uc011cfp.1_Missense_Mutation_p.P470S|SEC24B_uc011cfq.1_Missense_Mutation_p.P439S|SEC24B_uc011cfr.1_Missense_Mutation_p.P404S	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	439					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGCTTCTGCTCCAGCTCCAGC	0.488		NaN											0	0	0	0.01441	0	40	107				
FAT4	79633	broad.mit.edu	37	4	126238820	126238820	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126238820C>T	uc003ifj.3	+	1	1254	c.1254C>T	c.(1252-1254)AGC>AGT	p.S418S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	418	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CGAACCTGAGCCTAATCAAGG	0.597		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	11	27				
FAT4	79633	broad.mit.edu	37	4	126238826	126238826	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126238826C>T	uc003ifj.3	+	1	1260	c.1260C>T	c.(1258-1260)ATC>ATT	p.I420I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	420	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAGCCTAATCAAGGTGGCCA	0.607		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.020292	0	12	29				
FAT4	79633	broad.mit.edu	37	4	126239094	126239094	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239094C>G	uc003ifj.3	+	1	1528	c.1528C>G	c.(1528-1530)CTG>GTG	p.L510V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	510	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAATGCTAATCTGCGTTACAG	0.557		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	19	53				
FAT4	79633	broad.mit.edu	37	4	126239141	126239141	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239141C>G	uc003ifj.3	+	1	1575	c.1575C>G	c.(1573-1575)ATC>ATG	p.I525M		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	525	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGTTCCATATCAGTGAACATA	0.537		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.015359	0	25	71				
FAT4	79633	broad.mit.edu	37	4	126239282	126239282	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239282C>G	uc003ifj.3	+	1	1716	c.1716C>G	c.(1714-1716)CTC>CTG	p.L572L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	572	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TAGTAACTCTCCTAGATGTGA	0.498		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	18	44				
FAT4	79633	broad.mit.edu	37	4	126239473	126239473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239473C>T	uc003ifj.3	+	1	1907	c.1907C>T	c.(1906-1908)CCT>CTT	p.P636L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	636	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CGTCTGGATCCTGTGTCTGGG	0.567		NaN											0	0	0	0.012319	0	21	34				
FAT4	79633	broad.mit.edu	37	4	126239494	126239494	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239494C>G	uc003ifj.3	+	1	1928	c.1928C>G	c.(1927-1929)ACT>AGT	p.T643S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	643	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGGTTGAGTACTATTTCCTCC	0.552		NaN											0	0	0	0.006122	0	17	29				
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239578C>G	uc003ifj.3	+	1	2012	c.2012C>G	c.(2011-2013)TCA>TGA	p.S671*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	671	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCCCAGTCATCAATGGCTCGC	0.488		NaN											0	0	0	0.00632	0	24	51				
FAT4	79633	broad.mit.edu	37	4	126239780	126239780	+	Silent	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126239780C>A	uc003ifj.3	+	1	2214	c.2214C>A	c.(2212-2214)GTC>GTA	p.V738V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	738	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGTTTCAGGTCAATGCTCAGA	0.453		NaN											1	0	3.27435e-08	0.020292	3.4296e-08	15	39				
FAT4	79633	broad.mit.edu	37	4	126240344	126240344	+	Silent	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240344C>A	uc003ifj.3	+	1	2778	c.2778C>A	c.(2776-2778)GGC>GGA	p.G926G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	926	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGTCAATGGCATGGTACTCT	0.473		NaN											1	0	0.000978159	0.010729	0.00101146	8	40				
FAT4	79633	broad.mit.edu	37	4	126240492	126240492	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240492C>T	uc003ifj.3	+	1	2926	c.2926C>T	c.(2926-2928)CTC>TTC	p.L976F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	976	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTCCCACAGCTCTCCTCTAG	0.443		NaN											0	0	0	0.014323	0	20	53				
FAT4	79633	broad.mit.edu	37	4	126240499	126240499	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240499C>A	uc003ifj.3	+	1	2933	c.2933C>A	c.(2932-2934)TCT>TAT	p.S978Y		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	978	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGCTCTCCTCTAGTGTCATC	0.453		NaN											1	0	4.26978e-12	0.01892	4.53081e-12	22	55				
FAT4	79633	broad.mit.edu	37	4	126240563	126240563	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240563C>G	uc003ifj.3	+	1	2997	c.2997C>G	c.(2995-2997)CTC>CTG	p.L999L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	999	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGACCAACTCTCTTATGAAG	0.408		NaN											0	0	0	0.010771	0	34	85				
FAT4	79633	broad.mit.edu	37	4	126240606	126240606	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240606C>G	uc003ifj.3	+	1	3040	c.3040C>G	c.(3040-3042)CGA>GGA	p.R1014G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1014	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTGAATTCTCGATTCTTTAA	0.383		NaN											0	0	0	0.00632	0	27	61				
FAT4	79633	broad.mit.edu	37	4	126240753	126240753	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240753C>G	uc003ifj.3	+	1	3187	c.3187C>G	c.(3187-3189)CAA>GAA	p.Q1063E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1063	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCGTGAACTTCAAGACAGATA	0.373		NaN											0	0	0	0.01441	0	46	86				
FAT4	79633	broad.mit.edu	37	4	126240826	126240826	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126240826C>G	uc003ifj.3	+	1	3260	c.3260C>G	c.(3259-3261)ACT>AGT	p.T1087S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1087	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGAATGTTACTGTAATTTTA	0.393		NaN											0	0	0	0.013114	0	38	100				
FAT4	79633	broad.mit.edu	37	4	126241103	126241103	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:126241103C>G	uc003ifj.3	+	1	3537	c.3537C>G	c.(3535-3537)GTC>GTG	p.V1179V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1179	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCTTTACAGTCATAGCAACAG	0.428		NaN											0	0	0	0.010771	0	36	69				
HSPA4L	22824	broad.mit.edu	37	4	128722997	128722997	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:128722997G>C	uc003ifm.2	+	6	840	c.587G>C	c.(586-588)AGA>ACA	p.R196T	HSPA4L_uc010iny.1_Missense_Mutation_p.R155T|HSPA4L_uc011cgr.1_Missense_Mutation_p.R163T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	196					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GAGAAACCAAGAAATGTAGTA	0.328		NaN											0	0	0	0.006122	0	15	13				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:146059006G>A	uc003ika.3	-	21	2864	c.2726C>T	c.(2725-2727)ACT>ATT	p.T909I	OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	973							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463		NaN											0	0	0	0.001984	0	5	137				
FGA	2243	broad.mit.edu	37	4	155506692	155506692	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:155506692C>T	uc003iod.1	-	5	1947	c.1889G>A	c.(1888-1890)AGA>AAA	p.R630K	FGA_uc003ioe.1_Missense_Mutation_p.R630K|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	630	By similarity.|Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	gtggatacctctgaCAGGGCG	0.239		NaN											0	0	0	0.008871	0	19	51				
ODZ3	55714	broad.mit.edu	37	4	183710449	183710449	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr4:183710449C>T	uc003ivd.1	+	24	5545	c.5508C>T	c.(5506-5508)ACC>ACT	p.T1836T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1836	YD 5.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGCGAGGCACCACTAGCGAGA	0.512		NaN											0	0	0	0.006214	0	7	43				
MARCH6	10299	broad.mit.edu	37	5	10390534	10390534	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:10390534G>C	uc003jet.1	+	6	681	c.498G>C	c.(496-498)CAG>CAC	p.Q166H	MARCH6_uc011cmu.1_Missense_Mutation_p.Q118H|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.Q61H	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	166	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGAGAGAGCAGATAGTCCATG	0.488		NaN											0	0	0	0.01441	0	42	143				
OCLN	4950	broad.mit.edu	37	5	68805036	68805036	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:68805036C>G	uc003jwu.2	+	3	555	c.119C>G	c.(118-120)TCT>TGT	p.S40C	OCLN_uc003jwv.3_Missense_Mutation_p.S40C	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCAATGCTCTCTCAGCCAGCC	0.403		NaN											0	0	0	0.021022	0	36	81				
ATP6AP1L	92270	broad.mit.edu	37	5	81608660	81608660	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:81608660T>C	uc003khv.2	+	9	1687	c.362T>C	c.(361-363)ATT>ACT	p.I121T	ATP6AP1L_uc003khw.2_Missense_Mutation_p.I121T	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	121					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						GTCACTTTTATTGATTTCCAG	0.502		NaN									OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	9	38				
ARRDC3	57561	broad.mit.edu	37	5	90670966	90670966	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:90670966C>G	uc003kjz.2	-	5	883	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	215					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAGCAGTTCTCAATCTCAGCA	0.388		NaN											0	0	0	0.009096	0	4	33				
SAR1B	51128	broad.mit.edu	37	5	133942733	133942733	+	Silent	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:133942733C>G	uc003kzq.2	-	8	751	c.504G>C	c.(502-504)CTG>CTC	p.L168L	SAR1B_uc003kzr.2_Silent_p.L168L	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	168					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCGGGCATTCAGTTCTTTCA	0.403		NaN											0	0	0	0.007291	0	24	62				
PCDHB10	56126	broad.mit.edu	37	5	140572567	140572567	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:140572567G>A	uc003lix.2	+	1	616	c.442G>A	c.(442-444)GAA>AAA	p.E148K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	148	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACAGCTGAAGGGACAGC	0.413		NaN											0	0	0	0.00632	0	27	42				
NR3C1	2908	broad.mit.edu	37	5	142680325	142680325	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:142680325C>T	uc003lmz.2	-	5	1964	c.1472G>A	c.(1471-1473)CGA>CAA	p.R491Q	NR3C1_uc003lmy.2_Missense_Mutation_p.R492Q|NR3C1_uc003lna.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnb.2_Missense_Mutation_p.R491Q|NR3C1_uc011dbk.1_Missense_Mutation_p.R94Q|NR3C1_uc003lnc.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnd.2_Missense_Mutation_p.R491Q|NR3C1_uc003lne.2_Missense_Mutation_p.R491Q|NR3C1_uc003lnf.2_Missense_Mutation_p.R492Q	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	491	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTTGTTTTTCGAGCTGTGGG	0.348		NaN											0	0	0	0.004672	0	3	7				
FBXO38	81545	broad.mit.edu	37	5	147821699	147821699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr5:147821699G>A	uc003lpf.1	+	22	3676	c.3556G>A	c.(3556-3558)GAC>AAC	p.D1186N	FBXO38_uc003lpg.1_Missense_Mutation_p.D1111N|FBXO38_uc003lph.2_Missense_Mutation_p.D941N	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1186						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGAAGATGACTACATTTA	0.458		NaN											0	0	0	0.016723	0	12	80				
PPARD	5467	broad.mit.edu	37	6	35392554	35392554	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:35392554G>C	uc003okm.2	+	7	1385	c.1076G>C	c.(1075-1077)GGA>GCA	p.G359A	PPARD_uc003okl.2_Missense_Mutation_p.G359A|PPARD_uc003okn.2_Missense_Mutation_p.G359A|PPARD_uc011dtb.1_Missense_Mutation_p.G320A|PPARD_uc011dtc.1_Missense_Mutation_p.G261A	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	359	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ATTCTGTGTGGAGGTGAGTGA	0.562		NaN											0	0	0	0.008871	0	15	22				
TDRD6	221400	broad.mit.edu	37	6	46657989	46657989	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:46657989G>A	uc003oyj.2	+	1	2124	c.2124G>A	c.(2122-2124)CAG>CAA	p.Q708Q	TDRD6_uc010jze.2_Silent_p.Q702Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	708					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAGGAGAGCAGAAAGCCAAGA	0.408		NaN											0	0	0	0.006122	0	15	24				
NT5E	4907	broad.mit.edu	37	6	86194979	86194979	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:86194979G>A	uc003pko.3	+	4	1334	c.778G>A	c.(778-780)GCT>ACT	p.A260T	NT5E_uc010kbr.2_Missense_Mutation_p.A260T	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	260					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGAGGTGCCTGCTGGGAAGTA	0.502		NaN											0	0	0	0.006214	0	9	55				
FOXO3	2309	broad.mit.edu	37	6	108984897	108984897	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:108984897G>A	uc003psk.2	+	3	1177	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.Q287Q|FOXO3_uc011ean.1_Silent_p.Q67Q|FOXO3_uc010kdj.1_Silent_p.Q67Q	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	287					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GTCCCTCCCAGCTCTCCAAGT	0.597		NaN											0	0	0	0.006122	0	12	18				
SESN1	27244	broad.mit.edu	37	6	109308772	109308772	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:109308772C>G	uc003pst.3	-	10	1546	c.1454G>C	c.(1453-1455)AGA>ACA	p.R485T	SESN1_uc003psu.2_Missense_Mutation_p.R544T	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	485					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGTAATGGCTCTCAGAGCATA	0.398		NaN											0	0	0	0.00632	0	20	55				
COL10A1	1300	broad.mit.edu	37	6	116442382	116442382	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:116442382C>T	uc003pwm.2	-	3	993	c.897G>A	c.(895-897)GGG>GGA	p.G299G	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	299	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		AGCCTGGTTTCCCAAAGCCAG	0.642		NaN											0	0	0	0.004482	0	8	27				
HDDC2	51020	broad.mit.edu	37	6	125621706	125621706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:125621706C>T	uc003qaa.1	-	2	388	c.184G>A	c.(184-186)GAT>AAT	p.D62N	HDDC2_uc003qab.1_RNA	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	62	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		AGACGGTCATCTTTGATCACC	0.498		NaN											0	0	0	0.028581	0	15	61				
FNDC1	84624	broad.mit.edu	37	6	159653433	159653433	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:159653433C>G	uc010kjv.2	+	11	2089	c.1889C>G	c.(1888-1890)TCT>TGT	p.S630C	FNDC1_uc010kjw.1_Missense_Mutation_p.S515C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	630						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGGGCACCTCTCATCGTCCT	0.667		NaN											0	0	0	0.006122	0	12	96				
WDR27	253769	broad.mit.edu	37	6	170013745	170013745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr6:170013745G>A	uc003qwx.2	-	22	2751	c.2231C>T	c.(2230-2232)TCA>TTA	p.S744L	WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Missense_Mutation_p.S744L|WDR27_uc003qwy.2_Missense_Mutation_p.S617L			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	714	WD 8.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGTTGTAAATGATGAACCCTA	0.423		NaN											0	0	0	0.014758	0	4	24				
AMZ1	155185	broad.mit.edu	37	7	2749415	2749415	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:2749415C>A	uc003smr.1	+	6	1274	c.913C>A	c.(913-915)CAT>AAT	p.H305N	AMZ1_uc003sms.1_Missense_Mutation_p.A248E|AMZ1_uc011jwa.1_Missense_Mutation_p.H54N	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	305							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAAGCTGCAGCATGTCCTGGG	0.701		NaN									OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.4624e-09	0.008871	2.59031e-09	15	31				
PLEKHA8	84725	broad.mit.edu	37	7	30094402	30094402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:30094402G>A	uc003tam.1	+	8	965	c.874G>A	c.(874-876)GAC>AAC	p.D292N	PLEKHA8_uc003tao.2_Missense_Mutation_p.D176N|PLEKHA8_uc003tap.1_Missense_Mutation_p.D292N|PLEKHA8_uc003tan.2_Missense_Mutation_p.D292N	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	292					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GTCTGGATCAGACTCAAGTTG	0.383		NaN											0	0	0	0.021523	0	22	79				
MYO1G	64005	broad.mit.edu	37	7	45015119	45015119	+	Silent	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:45015119C>T	uc003tmh.2	-	4	672	c.528G>A	c.(526-528)CCG>CCA	p.P176P	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Silent_p.P61P|MYO1G_uc003tmi.1_Silent_p.P88P|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	176	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						GTCCTCCGATCGGGTCCCCCT	0.607		NaN											0	0	0	0.01892	0	16	28				
EPHB4	2050	broad.mit.edu	37	7	100417263	100417263	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:100417263C>G	uc003uwn.1	-	6	1704	c.1213G>C	c.(1213-1215)GAG>CAG	p.E405Q	EPHB4_uc003uwm.1_Missense_Mutation_p.E312Q|EPHB4_uc010lhj.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkf.1_Missense_Mutation_p.E405Q|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.E405Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	405	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGTGACCTCAAAGGTATAG	0.622		NaN											0	0	0	0.024245	0	13	146				
RELN	5649	broad.mit.edu	37	7	103202301	103202301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:103202301C>T	uc003vca.2	-	35	5470	c.5310G>A	c.(5308-5310)TGG>TGA	p.W1770*	RELN_uc010liz.2_Nonsense_Mutation_p.W1770*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1770	EGF-like 4.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGCACATCCAAGGGCACC	0.473		NaN											0	0	0	0.007835	0	30	48				
IFRD1	3475	broad.mit.edu	37	7	112096991	112096991	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:112096991C>A	uc003vgh.2	+	5	750	c.307C>A	c.(307-309)CTT>ATT	p.L103I	IFRD1_uc011kmn.1_Missense_Mutation_p.L53I|IFRD1_uc003vgi.2_Missense_Mutation_p.L103I|IFRD1_uc003vgj.2_Missense_Mutation_p.L103I|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.L53I	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	103					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						GCAAGCAGCTCTTGAAGGTAT	0.338		NaN											1	0	0.00024832	0.009096	0.000257871	3	39				
FLNC	2318	broad.mit.edu	37	7	128488646	128488646	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:128488646G>C	uc003vnz.3	+	27	4821	c.4612G>C	c.(4612-4614)GAT>CAT	p.D1538H	FLNC_uc003voa.3_Missense_Mutation_p.D1538H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1538	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCCAGCTCATGATGCCAGCAA	0.642		NaN											0	0	0	0.01441	0	54	254				
ZNF425	155054	broad.mit.edu	37	7	148801424	148801424	+	Silent	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:148801424G>A	uc003wfj.2	-	4	1612	c.1539C>T	c.(1537-1539)CTC>CTT	p.L513L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	513	C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGTGCTGCGTGAGCCGCGACT	0.637		NaN											0	0	0	0.016723	0	9	33				
MLL3	58508	broad.mit.edu	37	7	151945127	151945127	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr7:151945127G>C	uc003wla.2	-	14	2611	c.2392C>G	c.(2392-2394)CAT>GAT	p.H798D		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	798					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGTAATTATGCAGCATGTCA	0.443		NaN	N		medulloblastoma								0	0	0	0.019004	0	25	552		Valid		
IKBKB	3551	broad.mit.edu	37	8	42183487	42183487	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:42183487G>C	uc003xow.1	+	20	2164	c.1987_splice	c.e20-1	p.S663_splice	IKBKB_uc010lxj.1_Splice_Site_p.S440_splice|IKBKB_uc003xox.1_Splice_Site_p.S384_splice|IKBKB_uc011lcp.1_Splice_Site|IKBKB_uc011lcq.1_Splice_Site_p.S661_splice|IKBKB_uc010lxi.1_Splice_Site|IKBKB_uc011lcr.1_Splice_Site_p.S604_splice	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTGTCCCCTAGAGCAAGGTCC	0.522		NaN											0	0	0	0.01441	0	44	157				
LRRCC1	85444	broad.mit.edu	37	8	86050700	86050700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:86050700G>C	uc003ycw.2	+	17	2984	c.2830G>C	c.(2830-2832)GAA>CAA	p.E944Q	LRRCC1_uc003ycx.2_Missense_Mutation_p.E851Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E924Q	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	944					cell division|mitosis	centriole|nucleus					0						CAAAAGTATTGAACTACAAAA	0.333		NaN											0	0	0	0.028581	0	13	20				
ESRP1	54845	broad.mit.edu	37	8	95655543	95655543	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:95655543G>A	uc003ygq.3	+	3	457	c.274G>A	c.(274-276)GTG>ATG	p.V92M	ESRP1_uc003ygr.3_Missense_Mutation_p.V92M|ESRP1_uc003ygs.3_Missense_Mutation_p.V92M|ESRP1_uc003ygt.3_Missense_Mutation_p.V92M|ESRP1_uc003ygu.3_Missense_Mutation_p.V92M|ESRP1_uc003ygv.2_5'Flank|ESRP1_uc003ygw.2_5'Flank	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	92					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TAACCAGTCAGTGAGCAATGA	0.453		NaN											0	0	0	0.014758	0	4	87				
PLEKHF2	79666	broad.mit.edu	37	8	96166849	96166849	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:96166849C>T	uc003yhn.1	+	2	824	c.577C>T	c.(577-579)CTT>TTT	p.L193F		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	193	FYVE-type.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					GAGATTTCTTCTTCCCAGCCA	0.507		NaN											0	0	0	0.01441	0	51	98				
RIMS2	9699	broad.mit.edu	37	8	104897909	104897909	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:104897909G>A	uc003yls.2	+	2	657	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R361Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R169Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R169Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	392					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAGTGTCCCGAGCACGGCAT	0.478		NaN								HNSCC(12;0.0054)			0	0	0	0.024245	0	12	21				
CSMD3	114788	broad.mit.edu	37	8	113241090	113241090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:113241090G>T	uc003ynu.2	-	70	11018	c.10859C>A	c.(10858-10860)TCA>TAA	p.S3620*	CSMD3_uc003yns.2_Nonsense_Mutation_p.S2822*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3580*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3451*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3620	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGTTGATTTGAAGAATTTGA	0.279		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	0	1.20859e-23	0.007413	1.32292e-23	15	18				
ENPP2	5168	broad.mit.edu	37	8	120620215	120620215	+	Silent	SNP	T	T	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:120620215T>C	uc003yot.1	-	9	866	c.780A>G	c.(778-780)CTA>CTG	p.L260L	ENPP2_uc003yos.1_Silent_p.L260L|ENPP2_uc010mdd.1_Silent_p.L260L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	260					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGTAATCCATAGCTAATGAG	0.318		NaN											0	0	0	0.006122	0	15	12				
MAPK15	225689	broad.mit.edu	37	8	144803789	144803789	+	Silent	SNP	G	G	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr8:144803789G>T	uc003yzj.2	+	12	1316	c.1275G>T	c.(1273-1275)GGG>GGT	p.G425G		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	425					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTCCTAGGGAATGGGGAAA	0.662		NaN											1	0	2.41358e-16	0.01441	2.59513e-16	60	64				
SLC1A1	6505	broad.mit.edu	37	9	4574009	4574009	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr9:4574009G>C	uc003zij.1	+	8	1106	c.870G>C	c.(868-870)CTG>CTC	p.L290L	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	290	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCACAGTCCTGACTGGGTATG	0.458		NaN											0	0	0	0.011902	0	44	47				
C9orf43	257169	broad.mit.edu	37	9	116190476	116190476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr9:116190476G>C	uc004bho.3	+	12	1476	c.1080G>C	c.(1078-1080)CAG>CAC	p.Q360H	C9orf43_uc004bhp.2_Missense_Mutation_p.Q360H	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	360											0						AGCAGCAGCAGATGGAAAAAG	0.373		NaN											0	0	0	0.004672	0	3	127				
RBM10	8241	broad.mit.edu	37	X	47045491	47045491	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:47045491G>A	uc004dhf.2	+	22	2837	c.2458G>A	c.(2458-2460)GAA>AAA	p.E820K	RBM10_uc004dhg.2_Missense_Mutation_p.E742K|RBM10_uc004dhh.2_Missense_Mutation_p.E819K|RBM10_uc010nhq.2_Missense_Mutation_p.E743K|RBM10_uc004dhi.2_Missense_Mutation_p.E885K	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	820					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CCGTGCAGCTGAACGCAGAGA	0.552		NaN											0	0	0	0.007413	0	16	17				
CACNA1F	778	broad.mit.edu	37	X	49071570	49071570	+	Silent	SNP	G	G	C			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:49071570G>C	uc004dnb.2	-	29	3668	c.3606C>G	c.(3604-3606)CTC>CTG	p.L1202L	CACNA1F_uc010nip.2_Silent_p.L1191L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1202	Helical; Name=S1 of repeat IV; (Potential).|IV.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CAACTGTGTTGAGCAGGATGA	0.552		NaN											0	0	0	0.027894	0	29	29				
STAG2	10735	broad.mit.edu	37	X	123185061	123185061	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:123185061C>T	uc004etz.3	+	11	1447	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	STAG2_uc004eua.2_Missense_Mutation_p.R370W|STAG2_uc004eub.2_Missense_Mutation_p.R370W|STAG2_uc004euc.2_Missense_Mutation_p.R370W|STAG2_uc004eud.2_Missense_Mutation_p.R370W|STAG2_uc004eue.2_Missense_Mutation_p.R370W	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	370	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TTTTACCAGTCGGTTCAAGGT	0.294		NaN											0	0	0	0.014758	0	4	5		Valid		
TAZ	6901	broad.mit.edu	37	X	153640483	153640483	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chrX:153640483G>A	uc004fkx.2	+	2	474	c.170G>A	c.(169-171)CGA>CAA	p.R57Q	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fky.2_Missense_Mutation_p.R57Q|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.R57Q|TAZ_uc004flb.2_Missense_Mutation_p.R57Q|TAZ_uc010nuy.2_Missense_Mutation_p.R75Q|TAZ_uc004flc.3_Intron	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	57					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCGAGAAGCGAGGCCCGGCC	0.662		NaN									OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.028581	0	14	6				
KCNAB2	8514	broad.mit.edu	37	1	6156774	6156774	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:6156774A>G	uc009vlv.1	+	14	1018	c.883A>G	c.(883-885)ATC>GTC	p.I295V	KCNAB2_uc001alv.1_Missense_Mutation_p.I295V|KCNAB2_uc001alw.1_Missense_Mutation_p.I281V|KCNAB2_uc001alx.1_Missense_Mutation_p.I295V|KCNAB2_uc001aly.1_Missense_Mutation_p.I343V|KCNAB2_uc009vlw.1_Missense_Mutation_p.I228V|KCNAB2_uc001alu.2_Missense_Mutation_p.I295V	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	295						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCAGGCCATCGCCGAGCG	0.692		NaN											0	0	0	0.014758	0	5	7				
PLEKHG5	57449	broad.mit.edu	37	1	6529488	6529488	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:6529488C>T	uc001ano.1	-	19	2225	c.2124G>A	c.(2122-2124)CTG>CTA	p.L708L	PLEKHG5_uc001ann.1_Silent_p.L689L|PLEKHG5_uc001anq.1_Silent_p.L729L|PLEKHG5_uc001anp.1_Silent_p.L729L|PLEKHG5_uc001anj.1_Silent_p.L213L|PLEKHG5_uc009vma.1_Silent_p.L492L|PLEKHG5_uc010nzr.1_Silent_p.L721L|PLEKHG5_uc001ank.1_Silent_p.L652L|PLEKHG5_uc009vmb.1_Silent_p.L652L|PLEKHG5_uc001anl.1_Silent_p.L652L|PLEKHG5_uc001anm.1_Silent_p.L652L|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	708	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAAACTCATTCAGGTAGATAA	0.592		NaN											0	0	0	0.021022	0	39	140				
SLC45A1	50651	broad.mit.edu	37	1	8385897	8385897	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:8385897G>T	uc001apb.2	+	3	510	c.510G>T	c.(508-510)TCG>TCT	p.S170S		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	170	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTCTCGCTCTTGCTGA	0.597		NaN											1	0	7.93312e-07	0.020292	8.4505e-07	14	60				
GALE	2582	broad.mit.edu	37	1	24124667	24124667	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:24124667C>T	uc009vqo.1	-	4	501	c.291G>A	c.(289-291)TCG>TCA	p.S97S	GALE_uc001bhv.1_Silent_p.S97S|GALE_uc001bhw.1_Silent_p.S97S|GALE_uc001bhx.1_Silent_p.S97S|GALE_uc009vqp.1_Silent_p.S97S|GALE_uc001bhy.1_Silent_p.S97S|GALE_uc001bhz.1_Silent_p.S23S|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	97					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTTCTGCACCGACTCGCCCA	0.562		NaN											0	0	0	0.014758	0	5	96				
SEPN1	57190	broad.mit.edu	37	1	26140386	26140386	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:26140386C>T	uc010oer.1	+	14	1457	c.1402C>T	c.(1402-1404)CTC>TTC	p.L468F	SEPN1_uc010oes.1_Missense_Mutation_p.L434F	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	468						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGGACTCTCCGGGAGAC	0.602		NaN											0	0	0	0.010729	0	11	67				
C1orf38	9473	broad.mit.edu	37	1	28208582	28208582	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:28208582G>A	uc001bpc.3	+	4	775	c.747G>A	c.(745-747)CTG>CTA	p.L249L	C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L249L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	basement membrane-induced gene isoform 3	249	CABIT 2.				cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCTGCTGAGCGAGGTCC	0.637		NaN											0	0	0	0.00499	0	15	46				
ZMYM1	79830	broad.mit.edu	37	1	35580244	35580244	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:35580244G>C	uc001bym.2	+	11	2961	c.2813G>C	c.(2812-2814)AGA>ACA	p.R938T	ZMYM1_uc001byn.2_Missense_Mutation_p.R938T|ZMYM1_uc010ohu.1_Missense_Mutation_p.R919T|ZMYM1_uc001byo.2_Missense_Mutation_p.R578T|ZMYM1_uc009vut.2_Missense_Mutation_p.R863T	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	938						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCAGAAAAGAAGAAAAATT	0.284		NaN											0	0	0	0.014758	0	4	54				
KCNQ4	9132	broad.mit.edu	37	1	41282936	41282936	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:41282936G>C	uc001cgh.1	+	2	397	c.315_splice	c.e2-1	p.I105_splice	KCNQ4_uc001cgi.1_Splice_Site_p.I105_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein						sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGTAATTGCAGATTTTTGCTG	0.522		NaN											0	0	0	0.009096	0	4	28				
SLC2A1	6513	broad.mit.edu	37	1	43395392	43395392	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:43395392C>T	uc001cik.2	-	6	1264	c.739G>A	c.(739-741)GAG>AAG	p.E247K		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	247	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCGACTCTCTTCCTTCATC	0.627		NaN											0	0	0	0.01441	0	60	124				
SLC2A1	6513	broad.mit.edu	37	1	43395395	43395395	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:43395395C>T	uc001cik.2	-	6	1261	c.736G>A	c.(736-738)GAA>AAA	p.E246K		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	246	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGACTCTCTTCCTTCATCTCC	0.622		NaN											0	0	0	0.01441	0	61	122				
MMACHC	25974	broad.mit.edu	37	1	45966020	45966020	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:45966020G>T	uc009vxv.2	+	1	165	c.16G>T	c.(16-18)GCA>TCA	p.A6S	CCDC163P_uc001cnt.2_5'Flank|CCDC163P_uc001cnw.2_5'Flank|CCDC163P_uc001cnu.2_5'Flank|CCDC163P_uc009vxt.1_5'Flank|CCDC163P_uc001cnv.2_5'Flank|CCDC163P_uc009vxu.1_5'Flank|MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	6							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCGAAAGTCGCAGAGCTGAA	0.512		NaN											1	0	3.52763e-06	0.00499	3.71159e-06	17	131				
SLC5A9	200010	broad.mit.edu	37	1	48701486	48701486	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:48701486C>T	uc001cro.2	+	10	1279	c.1227C>T	c.(1225-1227)TTC>TTT	p.F409F	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.F434F|SLC5A9_uc010omt.1_Silent_p.F423F|SLC5A9_uc001crp.2_Silent_p.F76F|SLC5A9_uc010omu.1_Silent_p.F76F	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	409	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GCACCCTGTTCACCATTGATG	0.612		NaN											0	0	0	0.013726	0	30	48				
ORC1L	4998	broad.mit.edu	37	1	52861995	52861995	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:52861995C>T	uc001ctt.2	-	5	663	c.444G>A	c.(442-444)CTG>CTA	p.L148L	ORC1L_uc010oni.1_Silent_p.L148L|ORC1L_uc001ctu.2_Silent_p.L148L|ORC1L_uc009vzd.2_5'UTR	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	148	BAH.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						TCTCATTTTTCAGATTCGTCG	0.418		NaN											0	0	0	0.01441	0	63	77				
LEPR	3953	broad.mit.edu	37	1	66083712	66083712	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:66083712C>G	uc001dci.2	+	16	2480	c.2278C>G	c.(2278-2280)CTA>GTA	p.L760V	LEPR_uc001dcg.2_Missense_Mutation_p.L760V|LEPR_uc001dch.2_Missense_Mutation_p.L760V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L760V|LEPR_uc001dck.2_Missense_Mutation_p.L760V	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	760	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCCTGGATACTATCACCCAG	0.318		NaN											0	0	0	0.013537	0	13	55				
ST6GALNAC5	81849	broad.mit.edu	37	1	77516012	77516012	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:77516012G>C	uc001dhi.2	+	4	916	c.741G>C	c.(739-741)AGG>AGC	p.R247S	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	247	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						TCTGTGACAGGATCAATGTTT	0.433		NaN											0	0	0	0.006999	0	40	82				
PIGK	10026	broad.mit.edu	37	1	77629564	77629564	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:77629564G>A	uc001dhk.2	-	6	596	c.551C>T	c.(550-552)GCG>GTG	p.A184V	PIGK_uc010orj.1_Missense_Mutation_p.A108V|PIGK_uc009wbx.2_Missense_Mutation_p.A90V|PIGK_uc001dhl.1_Missense_Mutation_p.A184V	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	184	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						AAAAGCATCCGCGAGTTCTAT	0.308		NaN											0	0	0	0.00499	0	15	40				
RBM15	64783	broad.mit.edu	37	1	110882503	110882503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:110882503C>G	uc001dzl.1	+	1	559	c.476C>G	c.(475-477)TCA>TGA	p.S159*	RBM15_uc001dzm.1_Nonsense_Mutation_p.S159*|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	159	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCGCCTCCTCAGCTCCCGGC	0.642		NaN	T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	20	32				
OVGP1	5016	broad.mit.edu	37	1	111957832	111957832	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:111957832C>A	uc001eba.2	-	11	1347	c.1291G>T	c.(1291-1293)GGG>TGG	p.G431W	OVGP1_uc001eaz.2_Missense_Mutation_p.G393W|OVGP1_uc010owb.1_Missense_Mutation_p.G79W	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	431					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCAGTGACCCCAGCCTCTCCT	0.498		NaN											1	0	2.23348e-06	0.004007	2.35718e-06	15	77				
HIST2H2AB	317772	broad.mit.edu	37	1	149859361	149859361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:149859361G>C	uc001ete.2	-	1	106	c.106C>G	c.(106-108)CGC>GGC	p.R36G	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	36					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGCCTTTGCGCAGCAAGCGG	0.697		NaN											0	0	0	0.007413	0	20	99				
CGN	57530	broad.mit.edu	37	1	151491799	151491799	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:151491799G>A	uc009wmw.2	+	2	948	c.804G>A	c.(802-804)CAG>CAA	p.Q268Q		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	262	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTCGTCAGACTCAGGACT	0.552		NaN											0	0	0	0.013537	0	13	31				
TCHH	7062	broad.mit.edu	37	1	152080319	152080319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:152080319C>G	uc001ezp.2	-	2	5374	c.5374G>C	c.(5374-5376)GAG>CAG	p.E1792Q	TCHH_uc009wne.1_Missense_Mutation_p.E1792Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1792	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCAGACTCTTGGCTGCGC	0.602		NaN											0	0	0	0.021523	0	25	75				
TCHH	7062	broad.mit.edu	37	1	152080442	152080442	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:152080442C>G	uc001ezp.2	-	2	5251	c.5251G>C	c.(5251-5253)GAG>CAG	p.E1751Q	TCHH_uc009wne.1_Missense_Mutation_p.E1751Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1751	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCTTCCTCTAGGATTTTT	0.592		NaN											0	0	0	0.014323	0	23	69				
SHE	126669	broad.mit.edu	37	1	154471660	154471660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:154471660G>A	uc001ffb.2	-	2	733	c.646C>T	c.(646-648)CAA>TAA	p.Q216*	SHE_uc001ffc.2_RNA	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	216										breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCCCTTTGACCCTTTGTC	0.453		NaN											0	0	0	0.01892	0	26	62				
FCRL3	115352	broad.mit.edu	37	1	157650526	157650526	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:157650526C>T	uc001frb.2	-	13	2284	c.1992G>A	c.(1990-1992)CAG>CAA	p.Q664Q	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.Q664Q|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.Q390Q|FCRL3_uc001frc.1_Silent_p.Q664Q	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	664	ITIM motif 2.|Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGCTCCAGATCTGGGAATAAA	0.433		NaN											0	0	0	0.019004	0	31	53				
CD244	51744	broad.mit.edu	37	1	160808273	160808273	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:160808273C>G	uc009wtq.2	-	5	995	c.817G>C	c.(817-819)GAT>CAT	p.D273H	CD244_uc001fxa.2_Missense_Mutation_p.D268H|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.D176H	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	273	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCTTGACATCTTCGTAAATT	0.453		NaN											0	0	0	0.01441	0	140	80				
DEDD	9191	broad.mit.edu	37	1	161094073	161094073	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:161094073G>A	uc001fxz.2	-	3	353	c.180C>T	c.(178-180)CTC>CTT	p.L60L	NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Silent_p.L60L|DEDD_uc001fya.2_Silent_p.L60L|DEDD_uc001fyb.2_Silent_p.L60L|DEDD_uc010pkb.1_Intron|DEDD_uc001fyc.2_Intron	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	death effector domain-containing protein	60	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATTTCGGATGAGTCCACGCT	0.527		NaN											0	0	0	0.01441	0	64	29				
APOA2	336	broad.mit.edu	37	1	161193191	161193191	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:161193191T>C	uc001fzc.1	-	2	59	c.1A>G	c.(1-3)ATG>GTG	p.M1V	APOA2_uc001fzb.1_RNA|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.2_5'Flank|TOMM40L_uc009wue.2_5'Flank|TOMM40L_uc009wuf.1_5'Flank|TOMM40L_uc001fze.2_5'Flank	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	1					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAGCTTCATGTTGGTAACA	0.582		NaN											0	0	0	0.004482	0	8	40				
PBX1	5087	broad.mit.edu	37	1	164769086	164769086	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:164769086G>A	uc001gct.2	+	4	919	c.661G>A	c.(661-663)GAG>AAG	p.E221K	PBX1_uc010pku.1_Missense_Mutation_p.E221K|PBX1_uc010pkv.1_Missense_Mutation_p.E138K|PBX1_uc001gcs.2_Missense_Mutation_p.E221K|PBX1_uc010pkw.1_Missense_Mutation_p.E111K	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	221					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						GAGCACGTGCGAGGCGGTGAT	0.612		NaN	T	TCF3|EWSR1	pre B-ALL|myoepithelioma								0	0	0	0.004482	0	8	112				
PAPPA2	60676	broad.mit.edu	37	1	176564283	176564283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:176564283G>T	uc001gkz.2	+	3	2707	c.1543G>T	c.(1543-1545)GGA>TGA	p.G515*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.G515*|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	515	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CCAGTACAATGGATACTGGCC	0.537		NaN											1	0	5.50884e-06	0.013537	5.74326e-06	13	118				
PAPPA2	60676	broad.mit.edu	37	1	176659424	176659424	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:176659424A>G	uc001gkz.2	+	5	3453	c.2289A>G	c.(2287-2289)CCA>CCG	p.P763P	PAPPA2_uc001gky.1_Silent_p.P763P|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	763					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AGACAGTGCCATCCATGGAAA	0.552		NaN											0	0	0	0.008871	0	19	339				
ZBTB41	360023	broad.mit.edu	37	1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:197160945G>C	uc001gtx.1	-	2	1274	c.1205C>G	c.(1204-1206)TCT>TGT	p.S402C	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGTTAGGTTAGACTTTGTTGA	0.378		NaN											0	0	0	0.006214	0	10	28				
KDM5B	10765	broad.mit.edu	37	1	202702685	202702685	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:202702685T>A	uc001gyf.2	-	23	3869	c.3753A>T	c.(3751-3753)GCA>GCT	p.A1251A	KDM5B_uc009xag.2_Silent_p.A1287A|KDM5B_uc001gyg.1_Silent_p.A1093A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1251					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						TATATCGAAGTGCATCTCCCT	0.512		NaN											0	0	0	0.016723	0	14	57				
CUBN	8029	broad.mit.edu	37	10	16990556	16990556	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:16990556G>A	uc001ioo.2	-	35	5182	c.5130C>T	c.(5128-5130)AGC>AGT	p.S1710S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1710	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCGTCAGGGCGCTGCTGAAGG	0.512		NaN											0	0	0	0.020292	0	15	25				
ZNF33B	7582	broad.mit.edu	37	10	43088096	43088096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:43088096G>A	uc001jaf.1	-	5	2417	c.2302C>T	c.(2302-2304)CAG>TAG	p.Q768*	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q656*|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	768	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTGTTCTCTGATGTACAATG	0.398		NaN											0	0	0	0.021523	0	26	175				
CSTF2T	23283	broad.mit.edu	37	10	53457995	53457995	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:53457995C>G	uc001jjp.2	-	1	1361	c.1315G>C	c.(1315-1317)GAG>CAG	p.E439Q	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	439	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-5; approximate.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GCACAGGTCTCCATTCCTCTC	0.537		NaN											0	0	0	0.007413	0	19	66				
FAM13C	220965	broad.mit.edu	37	10	61028376	61028376	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:61028376G>A	uc001jkn.2	-	9	1013	c.879C>T	c.(877-879)ATC>ATT	p.I293I	FAM13C_uc001jko.2_Silent_p.I293I|FAM13C_uc010qid.1_Silent_p.I210I|FAM13C_uc010qie.1_Silent_p.I210I|FAM13C_uc010qif.1_Silent_p.I315I|FAM13C_uc001jkp.2_Silent_p.I210I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	293										ovary(2)	2						TGAGGCTCTGGATGTGCTTGG	0.498		NaN											0	0	0	0.008291	0	11	24				
PBLD	64081	broad.mit.edu	37	10	70048284	70048284	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:70048284C>G	uc001jns.1	-	8	850	c.647G>C	c.(646-648)AGA>ACA	p.R216T	PBLD_uc001jnr.1_Missense_Mutation_p.R183T|PBLD_uc001jnt.1_Missense_Mutation_p.R216T|PBLD_uc001jnu.1_Missense_Mutation_p.R216T|PBLD_uc001jnv.1_3'UTR	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	216					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TGCAAAATATCTTGAGTAAAA	0.468		NaN											0	0	0	0.003163	0	16	50				
ZMIZ1	57178	broad.mit.edu	37	10	81063832	81063832	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:81063832A>C	uc001kaf.2	+	19	2758	c.2186A>C	c.(2185-2187)GAT>GCT	p.D729A	ZMIZ1_uc001kag.2_Missense_Mutation_p.D605A|ZMIZ1_uc010qlq.1_5'Flank	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	729	SP-RING-type.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AACGGGGAGGATGGGGTGGAG	0.617		NaN											0	0	0	0.006214	0	10	36				
CDHR1	92211	broad.mit.edu	37	10	85973956	85973956	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:85973956C>G	uc001kcv.2	+	17	2159	c.2159C>G	c.(2158-2160)TCC>TGC	p.S720C	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.S424C|CDHR1_uc001kcx.2_Missense_Mutation_p.S34C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	720	Helical; (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GTCCTCATCTCCACCGCCACC	0.637		NaN											0	0	0	0.006122	0	18	59				
IFIT3	3437	broad.mit.edu	37	10	91099693	91099693	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:91099693G>A	uc001kgf.2	+	2	1510	c.1281G>A	c.(1279-1281)CAG>CAA	p.Q427Q	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.Q427Q	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	427	TPR 7.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						TTCATAAGCAGAATGGAGATC	0.433		NaN											0	0	0	0.00308	0	8	51				
C10orf76	79591	broad.mit.edu	37	10	103649229	103649229	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:103649229A>G	uc009xwy.1	-	24	1902	c.1800T>C	c.(1798-1800)TTT>TTC	p.F600F	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	600						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTTTGGGGTTAAAGTGGTTGA	0.428		NaN											0	0	0	0.01441	0	51	180				
PSD	5662	broad.mit.edu	37	10	104174879	104174879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:104174879C>T	uc001kvg.1	-	4	1392	c.865G>A	c.(865-867)GAC>AAC	p.D289N	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D289N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	289					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCACCGTGTCCAGGTCTGTC	0.672		NaN											0	0	0	0.00308	0	8	43				
TRUB1	142940	broad.mit.edu	37	10	116732026	116732026	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:116732026C>T	uc001lcd.2	+	6	790	c.729C>T	c.(727-729)TTC>TTT	p.F243F	TRUB1_uc010qsl.1_Silent_p.F145F	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	243					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CACCATTTTTCACATTAGGTA	0.358		NaN											0	0	0	0.009535	0	30	52				
PNLIP	5406	broad.mit.edu	37	10	118306905	118306905	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:118306905A>G	uc001lcm.2	+	3	189	c.146A>G	c.(145-147)AAA>AGA	p.K49R		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	49					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGTCTCCAAAAGATGTCAAC	0.398		NaN											0	0	0	0.008291	0	11	65				
WDR11	55717	broad.mit.edu	37	10	122626260	122626260	+	Silent	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:122626260C>A	uc010qtf.1	+	8	1412	c.1174C>A	c.(1174-1176)CGA>AGA	p.R392R	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	392	WD 3.					integral to membrane					0						AGTTTGTAATCGAAATTCACG	0.393		NaN											1	0	2.81731e-10	0.010818	3.06774e-10	31	56				
C10orf88	80007	broad.mit.edu	37	10	124708192	124708192	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:124708192C>T	uc001lgw.2	-	4	846	c.621G>A	c.(619-621)TTG>TTA	p.L207L	C10orf88_uc001lgx.2_Silent_p.L109L	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	207											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCATATCCATCAACTGCTGAG	0.413		NaN											0	0	0	0.006214	0	10	42				
MGMT	4255	broad.mit.edu	37	10	131565235	131565235	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr10:131565235G>T	uc001lkh.2	+	5	717	c.691G>T	c.(691-693)GGC>TGC	p.G231C		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	200										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		AGCTACCTCGGGCTCCCCGCC	0.637		NaN						Direct_reversal_of_damage					1	0	5.18039e-06	0.00308	5.4173e-06	8	17				
TRIM68	55128	broad.mit.edu	37	11	4623543	4623543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:4623543C>T	uc001lzf.1	-	4	860	c.622G>A	c.(622-624)GAG>AAG	p.E208K	TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.E208K	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	208	Potential.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGCTACCTCTGCCCCCAGC	0.537		NaN											0	0	0	0.00499	0	18	24				
OR51G1	79324	broad.mit.edu	37	11	4944672	4944672	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:4944672G>T	uc010qyr.1	-	1	898	c.898C>A	c.(898-900)CAA>AAA	p.Q300K		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAATTTGCTTGGTCTTG	0.423		NaN											1	0	0.000308642	0.003163	0.000316013	16	42				
MICAL2	9645	broad.mit.edu	37	11	12231097	12231097	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:12231097G>C	uc001mjz.2	+	6	931	c.643G>C	c.(643-645)GAG>CAG	p.E215Q	MICAL2_uc010rch.1_Missense_Mutation_p.E215Q|MICAL2_uc001mka.2_Missense_Mutation_p.E215Q|MICAL2_uc010rci.1_Missense_Mutation_p.E215Q|MICAL2_uc001mkb.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkc.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkd.2_Missense_Mutation_p.E44Q	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	215						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GTCGGAGTTTGAGTTTGACGT	0.532		NaN											0	0	0	0.00632	0	29	33				
LGR4	55366	broad.mit.edu	37	11	27405924	27405924	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:27405924C>G	uc001mrj.3	-	6	1133	c.648G>C	c.(646-648)CTG>CTC	p.L216L	LGR4_uc001mrk.3_Silent_p.L192L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	216	LRR 7.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						AGTGTTGACTCAGGCTTCTAA	0.323		NaN											0	0	0	0.010818	0	32	42				
KCNA4	3739	broad.mit.edu	37	11	30032651	30032651	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:30032651C>G	uc001msk.2	-	2	2727	c.1575G>C	c.(1573-1575)GTG>GTC	p.V525V		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	525	Selectivity filter (By similarity).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCATAGCCCACAGTTGTCA	0.517		NaN											0	0	0	0.016723	0	14	40				
TRAF6	7189	broad.mit.edu	37	11	36512195	36512195	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:36512195C>T	uc001mwr.1	-	8	1102	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q	TRAF6_uc001mws.1_Silent_p.Q254Q	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	254	Interaction with TAX1BP1.|TRAF-type 2.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTGATTCCTCTGCATCTAAA	0.473		NaN											0	0	0	0.00632	0	28	57				
OR5D18	219438	broad.mit.edu	37	11	55587908	55587908	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:55587908C>G	uc010rin.1	+	1	803	c.803C>G	c.(802-804)TCC>TGC	p.S268C		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TCCAAAAACTCCAGGCACACA	0.507		NaN											0	0	0	0.008361	0	32	59				
OR10AG1	282770	broad.mit.edu	37	11	55735793	55735793	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:55735793G>A	uc010rit.1	-	1	147	c.147C>T	c.(145-147)CCC>CCT	p.P49P		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	49	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					AAAAATACATGGGAGTCTGGA	0.333		NaN											0	0	0	0.01441	0	48	54				
TNKS1BP1	85456	broad.mit.edu	37	11	57069342	57069342	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57069342G>A	uc001njr.2	-	8	5222	c.4910C>T	c.(4909-4911)TCG>TTG	p.S1637L	TNKS1BP1_uc001njp.2_Missense_Mutation_p.S209L|TNKS1BP1_uc001njq.2_Missense_Mutation_p.S210L|TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1637L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1637	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GGTGCCCAACGACATCCGTGT	0.582		NaN											0	0	0	0.009096	0	4	56				
PRG3	10394	broad.mit.edu	37	11	57147185	57147185	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57147185T>A	uc001njv.1	-	3	267	c.157A>T	c.(157-159)ACG>TCG	p.T53S		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	53					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						ACCTCCTCCGTCAGAGCCAAG	0.562		NaN											0	0	0	0.004656	0	26	82				
OR10Q1	219960	broad.mit.edu	37	11	57995510	57995510	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:57995510C>T	uc010rkd.1	-	1	838	c.838G>A	c.(838-840)GCG>ACG	p.A280T		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				TAGACCAACGCGATTTGGCTG	0.547		NaN											0	0	0	0.014323	0	23	118				
PLAC1L	219990	broad.mit.edu	37	11	59807984	59807984	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:59807984G>A	uc001nol.2	+	1	237	c.52G>A	c.(52-54)GAG>AAG	p.E18K		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	18						extracellular region				ovary(2)|skin(1)	3						GACCGGTGCTGAGAACCTCCA	0.458		NaN											0	0	0	0.012213	0	31	79				
TMEM132A	54972	broad.mit.edu	37	11	60695278	60695278	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:60695278C>T	uc001nqj.2	+	3	674	c.481C>T	c.(481-483)CGG>TGG	p.R161W	TMEM132A_uc001nqi.2_Missense_Mutation_p.R161W|TMEM132A_uc001nqk.2_Missense_Mutation_p.R174W|TMEM132A_uc001nql.1_Missense_Mutation_p.R174W	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	161	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GCCCTGTGCCCGGCTCCATGC	0.652		NaN											0	0	0	0.021523	0	26	45				
NPAS4	266743	broad.mit.edu	37	11	66190264	66190264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:66190264G>T	uc001ohx.1	+	4	726	c.550G>T	c.(550-552)GGA>TGA	p.G184*	NPAS4_uc010rpc.1_Missense_Mutation_p.Q10H	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	184					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CTACTGGGCAGGAAATCCCGT	0.622		NaN											1	0	2.98393e-07	0.016522	3.1984e-07	25	97				
NPAS4	266743	broad.mit.edu	37	11	66191516	66191516	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:66191516T>C	uc001ohx.1	+	7	1331	c.1155T>C	c.(1153-1155)TCT>TCC	p.S385S	NPAS4_uc010rpc.1_Silent_p.S175S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	385					transcription, DNA-dependent		DNA binding|signal transducer activity				0						GTGTTGTCTCTGCATCAGAAG	0.562		NaN											0	0	0	0.007291	0	31	193				
CABP4	57010	broad.mit.edu	37	11	67222934	67222934	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:67222934C>G	uc001olo.2	+	1	117	c.40C>G	c.(40-42)CTG>GTG	p.L14V	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	14					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGGCCCAAATCTGGCCATTGG	0.632		NaN											0	0	0	0.001168	0	5	5				
UNC93B1	81622	broad.mit.edu	37	11	67766749	67766749	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:67766749G>C	uc001omw.1	-	5	661	c.581C>G	c.(580-582)TCC>TGC	p.S194C		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	194					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome					0						CTTGTAGTGGGAGTACTCATG	0.612		NaN											0	0	0	0.004007	0	17	17				
ARHGEF17	9828	broad.mit.edu	37	11	73066945	73066945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:73066945G>A	uc001otu.2	+	5	3631	c.3610G>A	c.(3610-3612)GAC>AAC	p.D1204N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1204	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGCGCTGTCTGACCTCATGAT	0.567		NaN											0	0	0	0.010818	0	28	99				
ARHGEF17	9828	broad.mit.edu	37	11	73067780	73067780	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:73067780G>A	uc001otu.2	+	7	3888	c.3867G>A	c.(3865-3867)CTG>CTA	p.L1289L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1289					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGCGGTTCCTGAGACAGGAGA	0.552		NaN											0	0	0	0.004482	0	7	35				
UVRAG	7405	broad.mit.edu	37	11	75852128	75852128	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:75852128G>A	uc001oxc.2	+	15	2012	c.1771G>A	c.(1771-1773)GGG>AGG	p.G591R	UVRAG_uc010rrw.1_Missense_Mutation_p.G490R|UVRAG_uc001oxd.2_Missense_Mutation_p.G219R|UVRAG_uc010rrx.1_Missense_Mutation_p.G219R|UVRAG_uc010rry.1_Missense_Mutation_p.G147R	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	591					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGCCCTCTCCGGGCACCGGGC	0.577		NaN											0	0	0	0.004482	0	9	28				
EED	8726	broad.mit.edu	37	11	85977208	85977209	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:85977208_85977209GA>CT	uc001pbp.2	+	8	1267_1268	c.810_811GA>CT	c.(808-813)ATGATG>ATCTTG	p.270_271MM>IL	EED_uc010rtm.1_Missense_Mutation_p.270_271MM>IL|EED_uc001pbq.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbr.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	270_271	Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CAAAGAGAATGATGAATGCAAT	0.302		NaN											0	0	0	0.004672	0	13	85				
TRPC6	7225	broad.mit.edu	37	11	101347251	101347251	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:101347251C>T	uc001pgk.3	-	6	1950	c.1525G>A	c.(1525-1527)GAA>AAA	p.E509K	TRPC6_uc009ywy.2_Missense_Mutation_p.E393K|TRPC6_uc009ywz.1_Missense_Mutation_p.E454K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	509	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCTTTACATTCAGCCCATATC	0.378		NaN											0	0	0	0.021523	0	25	27				
OR8A1	390275	broad.mit.edu	37	11	124440753	124440753	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:124440753C>T	uc010san.1	+	1	789	c.789C>T	c.(787-789)GCC>GCT	p.A263A		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	263	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACCTTGCAGCCGTGGGAATGT	0.507		NaN											0	0	0	0.007291	0	28	31				
RPUSD4	84881	broad.mit.edu	37	11	126081382	126081382	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:126081382C>T	uc001qde.2	-	1	206	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.R51Q|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	51	Potential.				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTTCTGGGCTCGGAGCTTCTC	0.567		NaN											0	0	0	0.01441	0	61	80				
ATF7IP	55729	broad.mit.edu	37	12	14589126	14589126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:14589126G>A	uc001rbw.2	+	4	1890	c.1732G>A	c.(1732-1734)GAG>AAG	p.E578K	ATF7IP_uc010shs.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbu.2_Missense_Mutation_p.E578K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbx.2_Missense_Mutation_p.E577K|ATF7IP_uc010sht.1_Missense_Mutation_p.E578K|ATF7IP_uc001rby.3_Missense_Mutation_p.E578K|ATF7IP_uc001rca.2_Missense_Mutation_p.E578K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	578	Interaction with SETDB1.|Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AGAAGAATATGAGGCAGAATT	0.323		NaN											0	0	0	0.012213	0	31	51				
SLCO1B3	28234	broad.mit.edu	37	12	21229431	21229431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:21229431C>T	uc010sil.1	+	15	2041	c.1976C>T	c.(1975-1977)ACG>ATG	p.T659M	LST-3TM12_uc010sim.1_Missense_Mutation_p.T598M|LST-3TM12_uc010sin.1_Missense_Mutation_p.T551M			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					ATTGATACAACGTGTATGAAG	0.363		NaN											0	0	0	0.007291	0	29	84				
KIAA0528	9847	broad.mit.edu	37	12	22646159	22646159	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:22646159G>C	uc001rfq.2	-	11	1488	c.1260C>G	c.(1258-1260)ATC>ATG	p.I420M	KIAA0528_uc010sir.1_Missense_Mutation_p.I235M|KIAA0528_uc010sis.1_Missense_Mutation_p.I420M|KIAA0528_uc010sit.1_Missense_Mutation_p.I422M|KIAA0528_uc010siu.1_Missense_Mutation_p.I420M|KIAA0528_uc001rfr.2_Missense_Mutation_p.I411M|KIAA0528_uc009ziy.1_Missense_Mutation_p.I422M	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	420							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TCATTTACCAGATGCTAGTTG	0.363		NaN											0	0	0	0.004007	0	17	92				
PPFIBP1	8496	broad.mit.edu	37	12	27787986	27787986	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:27787986T>A	uc001ric.1	+	4	585	c.208T>A	c.(208-210)TTG>ATG	p.L70M	PPFIBP1_uc001rhy.1_Missense_Mutation_p.L70M|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L70M|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L70M|PPFIBP1_uc001ria.2_Missense_Mutation_p.L70M|PPFIBP1_uc001rid.1_Intron	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	70					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					GAAAGAAGGCTTGAGATGCCA	0.458		NaN											0	0	0	0.020292	0	13	64				
CNTN1	1272	broad.mit.edu	37	12	41421762	41421762	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:41421762G>T	uc001rmm.1	+	22	2927	c.2814G>T	c.(2812-2814)ACG>ACT	p.T938T	CNTN1_uc001rmn.1_Silent_p.T927T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	938	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTACAGTGACGGGATATAAGG	0.348		NaN											1	0	1.5739e-10	0.004007	1.71926e-10	16	37				
ARID2	196528	broad.mit.edu	37	12	46244661	46244661	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:46244661C>G	uc001ros.1	+	15	2755	c.2755C>G	c.(2755-2757)CAG>GAG	p.Q919E	ARID2_uc001ror.2_Missense_Mutation_p.Q919E|ARID2_uc009zkg.1_Missense_Mutation_p.Q375E|ARID2_uc009zkh.1_Missense_Mutation_p.Q546E|ARID2_uc001rou.1_Missense_Mutation_p.Q253E	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	919	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAACAACCACAGCAGCCAAC	0.473		NaN											0	0	0	0.006122	0	17	123		Valid		
CCNT1	904	broad.mit.edu	37	12	49087819	49087819	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:49087819C>A	uc001rse.1	-	9	1501	c.1178G>T	c.(1177-1179)CGC>CTC	p.R393L	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108L	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	393	Potential.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						ATGCTTCGCGCGGTATTCTTT	0.448		NaN											1	0	3.99451e-17	0.009535	4.49218e-17	32	160				
KRT5	3852	broad.mit.edu	37	12	52910468	52910468	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:52910468G>A	uc001san.2	-	7	1555	c.1392C>T	c.(1390-1392)GAC>GAT	p.D464D	KRT5_uc009zmh.2_Silent_p.D464D	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	464	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGATCTCCACGTCCAGGGCCA	0.602		NaN											0	0	0	0.007291	0	30	105				
ERBB3	2065	broad.mit.edu	37	12	56477672	56477672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:56477672C>T	uc001sjh.2	+	2	413	c.220C>T	c.(220-222)CTC>TTC	p.L74F	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.L15F|ERBB3_uc001sjg.2_Missense_Mutation_p.L74F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	74	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAATGCCGACCTCTCCTTCCT	0.537		NaN											0	0	0	0.005443	0	27	71		Valid		
LRP1	4035	broad.mit.edu	37	12	57548325	57548325	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:57548325G>T	uc001snd.2	+	8	1534	c.1068G>T	c.(1066-1068)CAG>CAT	p.Q356H	LRP1_uc001snc.1_Missense_Mutation_p.Q356H	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	356	LDL-receptor class B 2.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGATGGGCAGAACCGCACCA	0.527		NaN											1	0	2.17888e-05	0.006214	2.25107e-05	10	27				
CYP27B1	1594	broad.mit.edu	37	12	58158842	58158842	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:58158842C>A	uc001spz.1	-	4	894	c.742G>T	c.(742-744)GGG>TGG	p.G248W	CYP27B1_uc001sqa.1_Missense_Mutation_p.G13W|CYP27B1_uc001sqb.1_Missense_Mutation_p.W128L|CYP27B1_uc001sqc.1_Missense_Mutation_p.W128L	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	248					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCCCAGGGCCCAGGCACAAGG	0.622		NaN									OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	7.93312e-07	0.020292	8.4505e-07	13	54				
SLC6A15	55117	broad.mit.edu	37	12	85266933	85266933	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:85266933C>A	uc001szv.2	-	7	1535	c.1042G>T	c.(1042-1044)GCA>TCA	p.A348S	SLC6A15_uc010sul.1_Missense_Mutation_p.A241S|SLC6A15_uc001szw.1_Missense_Mutation_p.A56S	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	348	Helical; Name=7; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						ACCAATGTTGCCAGGACAGAA	0.393		NaN											1	0	0.00307968	0.00308	0.00313451	8	56				
RASSF9	9182	broad.mit.edu	37	12	86199049	86199049	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:86199049G>T	uc001taf.1	-	2	1078	c.739C>A	c.(739-741)CTA>ATA	p.L247I		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	247	Potential.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						TGCAAGTCTAGATTTTGCTCA	0.403		NaN											1	0	1.01871e-10	0.008871	1.11635e-10	19	85				
NTS	4922	broad.mit.edu	37	12	86272172	86272172	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:86272172G>T	uc001tag.2	+	3	292	c.185G>T	c.(184-186)TGC>TTC	p.C62F		NM_006183	NP_006174	P30990	NEUT_HUMAN	neurotensin/neuromedin N preproprotein	62					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity				0						CTAAATGTTTGCAGTCTTGTA	0.358		NaN											1	0	1.50039e-11	0.012319	1.65477e-11	21	107				
TCP11L2	255394	broad.mit.edu	37	12	106712230	106712230	+	Silent	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:106712230A>G	uc001tln.2	+	4	576	c.402A>G	c.(400-402)GAA>GAG	p.E134E	TCP11L2_uc001tll.2_Silent_p.E134E|TCP11L2_uc001tlm.2_Silent_p.E134E	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	134										ovary(3)	3						AACTGTTTGAAGAAATCAGAG	0.328		NaN											0	0	0	0.003163	0	15	46				
ACACB	32	broad.mit.edu	37	12	109654448	109654448	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:109654448A>G	uc001tob.2	+	23	3495	c.3376A>G	c.(3376-3378)ATG>GTG	p.M1126V	ACACB_uc001toc.2_Missense_Mutation_p.M1126V	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1126					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CCGCGGCTATATGAAAACAGT	0.473		NaN											0	0	0	0.006214	0	10	32				
RASAL1	8437	broad.mit.edu	37	12	113554886	113554886	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:113554886C>T	uc001tum.1	-	9	1016	c.723G>A	c.(721-723)GAG>GAA	p.E241E	RASAL1_uc010syp.1_Silent_p.E241E|RASAL1_uc001tul.2_Silent_p.E241E|RASAL1_uc001tun.1_Silent_p.E241E|RASAL1_uc010syq.1_Silent_p.E241E|RASAL1_uc001tuo.3_Silent_p.E241E|RASAL1_uc010syr.1_Silent_p.E241E	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	241					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						ACCCAGAATCCTCCTCGGCTC	0.607		NaN											0	0	0	0.001984	0	6	24				
TBX5	6910	broad.mit.edu	37	12	114823367	114823367	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:114823367C>T	uc001tvo.2	-	7	1164	c.669G>A	c.(667-669)ACG>ACA	p.T223T	TBX5_uc001tvp.2_Silent_p.T223T|TBX5_uc001tvq.2_Silent_p.T173T|TBX5_uc010syv.1_Silent_p.T223T	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	223	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCTTTAATTGCGTGATCTGAA	0.418		NaN											0	0	0	0.014758	0	5	23				
DNAH10	196385	broad.mit.edu	37	12	124352470	124352470	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:124352470G>T	uc001uft.3	+	42	6994	c.6969G>T	c.(6967-6969)ATG>ATT	p.M2323I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2323					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGCCAAGATGTTGGATGCGT	0.512		NaN											1	0	0.00010058	0.013537	0.0001036	11	14				
FAM101A	144347	broad.mit.edu	37	12	124798930	124798930	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:124798930C>G	uc001ugd.1	+	3	510	c.267C>G	c.(265-267)ATC>ATG	p.I89M	FAM101A_uc001uge.1_Missense_Mutation_p.I89M	NM_181709	NP_859060	Q6ZTI6	F101A_HUMAN	hypothetical protein LOC144347	170											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACCATCATCTTCCCCAAGC	0.687		NaN											0	0	0	0.008361	0	28	40				
TMEM132D	121256	broad.mit.edu	37	12	130184385	130184385	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr12:130184385C>G	uc009zyl.1	-	2	1266	c.938G>C	c.(937-939)AGA>ACA	p.R313T		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	313	Extracellular (Potential).					integral to membrane		p.R313G(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGAATTTCTGGAGATGGA	0.502		NaN											0	0	0	0.00308	0	6	39				
N4BP2L2	10443	broad.mit.edu	37	13	33018121	33018121	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:33018121C>G	uc010abe.1	-	7	575	c.553G>C	c.(553-555)GAT>CAT	p.D185H	N4BP2L2_uc001uug.2_Missense_Mutation_p.D68H|N4BP2L2_uc010abd.1_Missense_Mutation_p.D98H|N4BP2L2_uc001uuh.2_Missense_Mutation_p.D16H|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.D170H	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GGGTCCTGATCTCCCGGTGTA	0.383		NaN											0	0	0	0.009096	0	4	9				
KBTBD7	84078	broad.mit.edu	37	13	41766515	41766515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:41766515G>A	uc001uxw.1	-	1	2188	c.1879C>T	c.(1879-1881)CAG>TAG	p.Q627*	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	627							protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATAAAACTCTGACCAGGTTCA	0.438		NaN											0	0	0	0.009535	0	33	74				
SLC15A1	6564	broad.mit.edu	37	13	99337111	99337111	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:99337111A>G	uc001vno.2	-	23	2071	c.1994T>C	c.(1993-1995)ATC>ACC	p.I665T		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	665	Helical; (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCGAGCCATGATGGCAAAAAT	0.413		NaN											0	0	0	0.001984	0	6	45				
MYO16	23026	broad.mit.edu	37	13	109817341	109817341	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:109817341G>A	uc001vqt.1	+	33	5317	c.5191G>A	c.(5191-5193)GGA>AGA	p.G1731R	MYO16_uc010agk.1_Missense_Mutation_p.G1753R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1731					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAATAACCATGGAATTCAGTT	0.338		NaN											0	0	0	0.001168	0	5	69				
CDC16	8881	broad.mit.edu	37	13	115037904	115037904	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr13:115037904G>C	uc001vuk.1	+	18	2047	c.1849G>C	c.(1849-1851)GAC>CAC	p.D617H	CDC16_uc001vul.1_Missense_Mutation_p.D617H|CDC16_uc001vum.1_Missense_Mutation_p.D523H|CDC16_uc001vun.1_Missense_Mutation_p.D616H|CDC16_uc001vuo.1_Missense_Mutation_p.D565H	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	617					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATCTATGTCAGACCACAGCAC	0.453		NaN											0	0	0	0.005524	0	36	17				
OR4K17	390436	broad.mit.edu	37	14	20586060	20586060	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:20586060C>T	uc001vwo.1	+	1	495	c.495C>T	c.(493-495)ACC>ACT	p.T165T		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACTACATGACCATCATGAACA	0.453		NaN											0	0	0	0.008291	0	11	95				
OR11H4	390442	broad.mit.edu	37	14	20711554	20711554	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:20711554G>T	uc010tld.1	+	1	604	c.604G>T	c.(604-606)GCT>TCT	p.A202S		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	202	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTGTGCCCCAGCTCCCATAAC	0.433		NaN											1	0	2.01871e-26	0.01441	2.28521e-26	66	98				
FUT8	2530	broad.mit.edu	37	14	66136117	66136117	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr14:66136117A>G	uc001xin.2	+	7	1951	c.754A>G	c.(754-756)ACT>GCT	p.T252A	FUT8_uc001xio.2_Missense_Mutation_p.T252A|FUT8_uc010tsp.1_Missense_Mutation_p.T89A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T252A|FUT8_uc001xiq.2_Missense_Mutation_p.T123A|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	252	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCGCTATGCTACTGGTGGATG	0.502		NaN											0	0	0	0.006214	0	10	48				
OR4M2	390538	broad.mit.edu	37	15	22368693	22368693	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:22368693C>A	uc010tzu.1	+	1	118	c.118C>A	c.(118-120)CCA>ACA	p.P40T	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTCATCCTACCAGGAAATAT	0.418		NaN											1	0	1.62957e-23	0.00874	1.83863e-23	44	389				
C15orf2	23742	broad.mit.edu	37	15	24921968	24921968	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:24921968C>G	uc001ywo.2	+	1	1428	c.954C>G	c.(952-954)CCC>CCG	p.P318P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	318	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGCTCCTCCCAGAGCTGCCC	0.587		NaN											0	0	0	0.001168	0	6	50				
MAPKBP1	23005	broad.mit.edu	37	15	42113042	42113042	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:42113042G>A	uc001zok.3	+	24	2798	c.2512G>A	c.(2512-2514)GTG>ATG	p.V838M	MAPKBP1_uc001zoj.3_Missense_Mutation_p.V832M|MAPKBP1_uc010bcj.2_Missense_Mutation_p.V339M|MAPKBP1_uc010bci.2_Missense_Mutation_p.V832M|MAPKBP1_uc010udb.1_Missense_Mutation_p.V671M|MAPKBP1_uc010bck.2_Missense_Mutation_p.V49M|MAPKBP1_uc010bcl.2_Missense_Mutation_p.V339M	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	838										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACAGGAGTCCGTGGGGTTCCT	0.488		NaN											0	0	0	0.001168	0	6	13				
SCAPER	49855	broad.mit.edu	37	15	76995205	76995205	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:76995205G>C	uc002bby.2	-	18	2445	c.2386C>G	c.(2386-2388)CTC>GTC	p.L796V	SCAPER_uc010bkr.2_Missense_Mutation_p.L104V|SCAPER_uc002bbx.2_Missense_Mutation_p.L550V|SCAPER_uc002bbz.1_Missense_Mutation_p.L667V|SCAPER_uc002bca.1_Missense_Mutation_p.L661V|SCAPER_uc002bcb.1_Missense_Mutation_p.L802V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	795	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						ACATTGCAGAGAGAACACTGC	0.358		NaN											0	0	0	0.00499	0	17	70				
ALPK3	57538	broad.mit.edu	37	15	85382285	85382285	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:85382285G>A	uc002ble.2	+	4	1152	c.985G>A	c.(985-987)GAG>AAG	p.E329K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	329	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAAATATGAGATCACTCA	0.572		NaN											0	0	0	0.010729	0	12	10				
CHD2	1106	broad.mit.edu	37	15	93563489	93563489	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:93563489G>A	uc002bsp.2	+	38	5728	c.5153_splice	c.e38+1	p.R1718_splice	CHD2_uc002bso.1_Silent_p.R1718R	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATTATGACAGGTATGCAAAAG	0.463		NaN											0	0	0	0.00499	0	17	26				
PCSK6	5046	broad.mit.edu	37	15	101938656	101938656	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr15:101938656C>A	uc002bwy.2	-	8	1263	c.949G>T	c.(949-951)GGG>TGG	p.G317W	PCSK6_uc010bpd.2_Missense_Mutation_p.G187W|PCSK6_uc010bpe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxa.2_Missense_Mutation_p.G317W|PCSK6_uc002bxb.2_Missense_Mutation_p.G317W|PCSK6_uc002bxc.1_Missense_Mutation_p.G317W|PCSK6_uc002bxd.1_Missense_Mutation_p.G317W|PCSK6_uc002bxe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxg.1_Missense_Mutation_p.G317W	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	317	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGCCGGGCCCGTCCACCGTC	0.582		NaN											1	0	6.94344e-10	0.006122	7.53671e-10	15	111				
SSTR5	6755	broad.mit.edu	37	16	1129228	1129228	+	Silent	SNP	C	C	T	rs35742768	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:1129228C>T	uc002ckq.2	+	1	448	c.360C>T	c.(358-360)GGC>GGT	p.G120G	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	120	Helical; Name=3; (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCTGGACGGCGTCAACCAGT	0.677		NaN											0	0	0	0.014758	0	4	38				
RPL3L	6123	broad.mit.edu	37	16	1996698	1996698	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:1996698C>T	uc002cnh.2	-	7	926	c.879G>A	c.(877-879)ATG>ATA	p.M293I		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	293					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						TCCCGTCCTCCATGTGCGGGC	0.652		NaN											0	0	0	0.004482	0	9	30				
MEFV	4210	broad.mit.edu	37	16	3298929	3298929	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:3298929C>G	uc002cun.1	-	4	1376	c.1336G>C	c.(1336-1338)GAG>CAG	p.E446Q		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	446					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	ACTGCCTTCTCCTCCCCATAG	0.532		NaN											0	0	0	0.007413	0	20	128				
ZC3H7A	29066	broad.mit.edu	37	16	11850213	11850213	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:11850213C>T	uc002dbk.2	-	20	2640	c.2442G>A	c.(2440-2442)GAG>GAA	p.E814E	ZC3H7A_uc002dbi.2_Silent_p.E2E|ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.E814E|ZC3H7A_uc002dbm.1_Silent_p.E724E	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	814						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CGTAAAATTGCTCCATATCTT	0.338		NaN											0	0	0	0.016723	0	14	35				
ZP2	7783	broad.mit.edu	37	16	21211121	21211121	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:21211121C>T	uc002dii.2	-	15	1773	c.1773G>A	c.(1771-1773)CAG>CAA	p.Q591Q	ZP2_uc010bwn.1_Silent_p.Q621Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	591	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TGTCAAACCTCTGATAGTGAT	0.502		NaN											0	0	0	0.014323	0	22	39				
DPEP2	64174	broad.mit.edu	37	16	68021779	68021779	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr16:68021779C>T	uc010cey.2	-	9	1346	c.1182G>A	c.(1180-1182)CTG>CTA	p.L394L	DPEP2_uc002evd.3_Silent_p.L399L|DPEP2_uc002eve.2_Silent_p.L394L|DPEP2_uc002evf.2_RNA	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	394					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGAAGACCCGCAGCAGGTTTC	0.567		NaN											0	0	0	0.009535	0	30	186				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:7577559G>A	uc002gim.2	-	7	916	c.722C>T	c.(721-723)TCC>TTC	p.S241F	TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.2_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	241	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(73)|p.S241C(24)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.C242fs*5(6)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.S241_G245delSCMGG(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013537	0	13	21		Valid		
MYH13	8735	broad.mit.edu	37	17	10216603	10216603	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:10216603A>T	uc002gmk.1	-	30	4143	c.4053T>A	c.(4051-4053)TAT>TAA	p.Y1351*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1351	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCTCCTCCTCATACTGTTCCC	0.602		NaN											0	0	0	0.010504	0	19	80				
AMAC1	146861	broad.mit.edu	37	17	33520951	33520951	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:33520951G>A	uc002hjd.2	-	1	462	c.376C>T	c.(376-378)CCC>TCC	p.P126S		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	126	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		TTGCCAGCGGGCACCACCTGA	0.607		NaN											0	0	0	0.01441	0	93	156				
MYO19	80179	broad.mit.edu	37	17	34864917	34864917	+	Silent	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:34864917C>A	uc010wcy.1	-	15	2207	c.1215G>T	c.(1213-1215)TCG>TCT	p.S405S	MYO19_uc002hmw.2_Silent_p.S405S|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	405	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTGGTCCACGAGTCGGTGT	0.547		NaN											1	0	9.05144e-12	0.016723	1.00474e-11	12	17				
GPATCH8	23131	broad.mit.edu	37	17	42476849	42476849	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:42476849A>T	uc002igw.1	-	8	2660	c.2596T>A	c.(2596-2598)TCC>ACC	p.S866T	GPATCH8_uc002igv.1_Missense_Mutation_p.S788T|GPATCH8_uc010wiz.1_Missense_Mutation_p.S788T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	866	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAACGCCGGGAGGAACGATGC	0.537		NaN											0	0	0	0.017118	0	35	93				
ICT1	3396	broad.mit.edu	37	17	73016618	73016618	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:73016618C>G	uc002jmm.2	+	5	404	c.402C>G	c.(400-402)ATC>ATG	p.I134M		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	134					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					GAGAGTTGATCCTCACCTCTG	0.468		NaN											0	0	0	0.008291	0	10	61				
ITGB4	3691	broad.mit.edu	37	17	73738530	73738530	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:73738530C>G	uc002jpg.2	+	24	2929	c.2742C>G	c.(2740-2742)CTC>CTG	p.L914L	ITGB4_uc002jph.2_Silent_p.L914L|ITGB4_uc002jpi.3_Silent_p.L914L|ITGB4_uc010dgp.1_Missense_Mutation_p.Q927E|ITGB4_uc002jpj.2_Silent_p.L914L	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	914	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCACGACCTCAAGGTGGCCC	0.657		NaN											0	0	0	0.00308	0	8	14				
GAA	2548	broad.mit.edu	37	17	78082619	78082619	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78082619A>G	uc002jxo.2	+	9	1500	c.1318A>G	c.(1318-1320)ATG>GTG	p.M440V	GAA_uc002jxp.2_Missense_Mutation_p.M440V|GAA_uc002jxq.2_Missense_Mutation_p.M440V	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	440					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCGCTACATGATGATCGTGGT	0.642		NaN											0	0	0	0.006214	0	7	11				
RNF213	57674	broad.mit.edu	37	17	78321834	78321834	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78321834C>T	uc002jyh.1	+	4	4141	c.3918C>T	c.(3916-3918)GTC>GTT	p.V1306V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCTGCAGGTCATAGAGAGGC	0.582		NaN											0	0	0	0.01892	0	21	66				
RPTOR	57521	broad.mit.edu	37	17	78519560	78519560	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr17:78519560C>G	uc002jyt.1	+	1	936	c.131C>G	c.(130-132)TCC>TGC	p.S44C	RPTOR_uc002jys.2_Missense_Mutation_p.S44C|RPTOR_uc010wuf.1_Translation_Start_Site|RPTOR_uc010wug.1_Missense_Mutation_p.S44C|RPTOR_uc002jyr.1_Missense_Mutation_p.S44C	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	44					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GGCTCCAAATCCTTAGCTCAG	0.478		NaN											0	0	0	0.010504	0	20	91				
ANKRD30B	374860	broad.mit.edu	37	18	14851705	14851705	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:14851705A>T	uc010dlo.2	+	36	3585	c.3405A>T	c.(3403-3405)AAA>AAT	p.K1135N	ANKRD30B_uc010xal.1_Missense_Mutation_p.K277N	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1220	Potential.									ovary(1)|skin(1)	2						TGAAACAGAAAACAGTAACAA	0.358		NaN											0	0	0	0.007413	0	19	22				
TAF4B	6875	broad.mit.edu	37	18	23854694	23854694	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:23854694T>A	uc002kvu.3	+	4	1154	c.665T>A	c.(664-666)CTG>CAG	p.L222Q	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.L222Q	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	222					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTAACTACCCTGAAGCCTTCA	0.428		NaN											0	0	0	0.004007	0	16	101				
SYT4	6860	broad.mit.edu	37	18	40851713	40851713	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr18:40851713G>C	uc002law.2	-	3	1303	c.934C>G	c.(934-936)CGA>GGA	p.R312G	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.R294G|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	312	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						GGCAGATGTCGAGCTTTTAAG	0.413		NaN											0	0	0	0.010729	0	12	65				
C3	718	broad.mit.edu	37	19	6679429	6679429	+	Missense_Mutation	SNP	C	C	T	rs142868256		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:6679429C>T	uc002mfm.2	-	37	4597	c.4535G>A	c.(4534-4536)CGC>CAC	p.R1512H	C3_uc002mfl.2_Missense_Mutation_p.R248H	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1512					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCAGCACAGCGGCACAGTTC	0.572		NaN											0	0	0	0.006999	0	38	77				
MUC16	94025	broad.mit.edu	37	19	9090928	9090928	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:9090928G>A	uc002mkp.2	-	1	1091	c.887C>T	c.(886-888)TCA>TTA	p.S296L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	296	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGGTCTCTGATATTTTATT	0.517		NaN											0	0	0	0.011902	0	43	46				
ILF3	3609	broad.mit.edu	37	19	10798322	10798322	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:10798322C>T	uc002mpn.2	+	18	2677	c.2360C>T	c.(2359-2361)TCG>TTG	p.S787L	ILF3_uc002mpo.2_Missense_Mutation_p.S791L|ILF3_uc002mpq.2_Nonsense_Mutation_p.R90*	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	787	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACTCCTACTCGAACTCCTAC	0.597		NaN											0	0	0	0.008871	0	21	14				
DDA1	79016	broad.mit.edu	37	19	17426805	17426805	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:17426805G>T	uc002ngd.2	+	4	325	c.198_splice	c.e4+1	p.K66_splice	DDA1_uc002nge.2_Splice_Site_p.E5_splice	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1											ovary(1)	1						GGACAAAAAGGTGAGGCCCAC	0.323		NaN											1	0	3.90053e-15	0.012213	4.34377e-15	34	175				
ZNF486	90649	broad.mit.edu	37	19	20308312	20308312	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:20308312C>A	uc002nou.2	+	4	850	c.793C>A	c.(793-795)CCC>ACC	p.P265T		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGAGAGAAACCCTACATTTG	0.368		NaN											1	0	0.00198382	0.001984	0.00202515	7	31				
ZNF486	90649	broad.mit.edu	37	19	20308324	20308324	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:20308324G>A	uc002nou.2	+	4	862	c.805G>A	c.(805-807)GAA>AAA	p.E269K		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	269	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTACATTTGTGAAGAATGTGG	0.373		NaN											0	0	0	0.00308	0	8	35				
ZNF681	148213	broad.mit.edu	37	19	23927544	23927544	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:23927544T>C	uc002nrk.3	-	4	950	c.808A>G	c.(808-810)ACA>GCA	p.T270A	ZNF681_uc002nrl.3_Missense_Mutation_p.T201A|ZNF681_uc002nrj.3_Missense_Mutation_p.T201A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	270	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTATGTGTTGTAATGTGTGAC	0.353		NaN											0	0	0	0.004007	0	17	47				
ARHGAP33	115703	broad.mit.edu	37	19	36278140	36278140	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:36278140G>A	uc002obs.1	+	21	2275	c.2190G>A	c.(2188-2190)CCG>CCA	p.P730P	ARHGAP33_uc002obt.1_Silent_p.P755P|ARHGAP33_uc010eel.2_Silent_p.P479P|ARHGAP33_uc002obv.1_Silent_p.P479P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCCCACCCCCGCCCCCTAAGA	0.657		NaN											0	0	0	0.007835	0	41	17				
SPTBN4	57731	broad.mit.edu	37	19	41076526	41076526	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:41076526A>T	uc002ony.2	+	33	7297	c.7211A>T	c.(7210-7212)CAG>CTG	p.Q2404L	SPTBN4_uc002onz.2_Missense_Mutation_p.Q2404L|SPTBN4_uc010egx.2_Missense_Mutation_p.Q1147L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2404					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			gccccggcccagggcggctcc	0.343		NaN											0	0	0	0.009096	0	4	2				
PSG2	5670	broad.mit.edu	37	19	43579628	43579628	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:43579628G>C	uc002ovr.2	-	3	680	c.587C>G	c.(586-588)TCC>TGC	p.S196C	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S196C|PSG2_uc010eiq.1_Missense_Mutation_p.S196C|PSG2_uc002ovs.3_Missense_Mutation_p.S196C|PSG2_uc002ovt.3_Missense_Mutation_p.S196C	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	196	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				GTTGGTTTCGGACAGCTGAAA	0.493		NaN											0	0	0	0.01441	0	125	798				
IRGQ	126298	broad.mit.edu	37	19	44097062	44097062	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:44097062G>A	uc002oww.2	-	2	1106	c.988C>T	c.(988-990)CGC>TGC	p.R330C	IRGQ_uc010eiv.2_Missense_Mutation_p.R330C	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	330							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CCGTCTGTGCGCACGCAGACA	0.632		NaN											0	0	0	0.013537	0	13	264				
ZNF229	7772	broad.mit.edu	37	19	44933335	44933335	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:44933335C>T	uc002oze.1	-	6	2055	c.1621G>A	c.(1621-1623)GGA>AGA	p.G541R	ZNF229_uc010ejk.1_Missense_Mutation_p.G195R|ZNF229_uc010ejl.1_Missense_Mutation_p.G535R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				GGTTTCTCTCCTGTGTGCAGT	0.512		NaN											0	0	0	0.01441	0	145	87				
CRX	1406	broad.mit.edu	37	19	48342712	48342712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:48342712G>A	uc002phq.3	+	4	592	c.388G>A	c.(388-390)GAT>AAT	p.D130N		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	130					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ACCCTCCACAGATGTGTGTCC	0.567		NaN											0	0	0	0.015359	0	37	81				
FUT2	2524	broad.mit.edu	37	19	49206253	49206253	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:49206253C>A	uc002pke.3	+	2	151	c.40C>A	c.(40-42)CAC>AAC	p.H14N	FUT2_uc010emc.2_Missense_Mutation_p.H14N	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	fucosyltransferase 2	14	Cytoplasmic (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			central_nervous_system(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TCCCATGGCCCACTTCATCCT	0.547		NaN											1	0	1.1362e-29	0.01441	1.29045e-29	61	184				
PPFIA3	8541	broad.mit.edu	37	19	49643235	49643235	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:49643235C>T	uc002pmr.2	+	18	2590	c.2258C>T	c.(2257-2259)TCT>TTT	p.S753F	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S621F|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	753						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCCAGATTCTCTGCACAAA	0.562		NaN											0	0	0	0.01441	0	68	110				
HAS1	3036	broad.mit.edu	37	19	52220265	52220265	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:52220265C>T	uc002pxo.1	-	3	919	c.884G>A	c.(883-885)TGT>TAT	p.C295Y	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.C260Y|HAS1_uc002pxn.1_Missense_Mutation_p.C302Y|HAS1_uc002pxp.1_Missense_Mutation_p.C294Y	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	295	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGCTCTGACAAGCCCGCTC	0.577		NaN											0	0	0	0.01441	0	53	159				
ZNF805	390980	broad.mit.edu	37	19	57764890	57764890	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:57764890G>A	uc010ygt.1	+	4	910	c.703G>A	c.(703-705)GAG>AAG	p.E235K	ZNF805_uc010ygu.1_Missense_Mutation_p.E102K	NM_001023563	NP_001018857	Q5CZA5	ZN805_HUMAN	zinc finger protein 805 isoform 1	235	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAATGCACAGAGTGTGGAAA	0.458		NaN											0	0	0	0.004672	0	3	18				
ZNF548	147694	broad.mit.edu	37	19	57908460	57908460	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:57908460G>T	uc002qom.2	+	2	310	c.60G>T	c.(58-60)GAG>GAT	p.E20D	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E23D	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCAGGAGGAGTGGGGGC	0.488		NaN											1	0	1.15966e-41	0.01441	1.32147e-41	96	171				
ZNF606	80095	broad.mit.edu	37	19	58491154	58491154	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:58491154G>A	uc002qqw.2	-	7	1512	c.894C>T	c.(892-894)TTC>TTT	p.F298F	ZNF606_uc010yhp.1_Silent_p.F208F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	298	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATATGATTGAAAGATTTAA	0.318		NaN											0	0	0	0.008871	0	21	49				
A1BG	1	broad.mit.edu	37	19	58862857	58862857	+	Silent	SNP	G	G	A	rs140428520		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:58862857G>A	uc002qsd.3	-	5	872	c.810C>T	c.(808-810)GCC>GCT	p.A270A	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	270	Ig-like V-type 3.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CATCCCCCAGGGCCACCGCGT	0.632		NaN											0	0	0	0.00308	0	8	46				
PPM1G	5496	broad.mit.edu	37	2	27608625	27608625	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:27608625T>A	uc002rkl.2	-	5	505	c.398A>T	c.(397-399)GAT>GTT	p.D133V	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	133					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					ATCATCTTCATCAGCTACTTT	0.393		NaN											0	0	0	0.019004	0	32	66				
SUPT7L	9913	broad.mit.edu	37	2	27876591	27876591	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:27876591G>C	uc002rlh.1	-	6	1349	c.1006C>G	c.(1006-1008)CTT>GTT	p.L336V	SUPT7L_uc002rli.1_Missense_Mutation_p.L336V|SUPT7L_uc010ymf.1_Missense_Mutation_p.L201V|SUPT7L_uc002rlj.1_Missense_Mutation_p.L334V|SUPT7L_uc010ezh.1_Missense_Mutation_p.L334V	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	336					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					AGATTCCAAAGAGGAGAAGCA	0.448		NaN											0	0	0	0.006999	0	39	93				
XDH	7498	broad.mit.edu	37	2	31591514	31591514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:31591514C>T	uc002rnv.1	-	19	2072	c.1993G>A	c.(1993-1995)GGG>AGG	p.G665R		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	665					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATGATATGCCCAACACAAGTA	0.443		NaN											0	0	0	0.00632	0	26	66				
MTIF2	4528	broad.mit.edu	37	2	55479634	55479634	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:55479634G>C	uc002ryn.2	-	9	1557	c.820C>G	c.(820-822)CAG>GAG	p.Q274E	MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.Q274E	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	274	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTGGCATGCTGAATAGATTCT	0.393		NaN											0	0	0	0.012213	0	28	74				
PPP3R1	5534	broad.mit.edu	37	2	68408096	68408096	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:68408096C>G	uc002sei.1	-	6	904	c.512G>C	c.(511-513)TGA>TCA	p.*171S		NM_000945	NP_000936	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B,	171					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)	TGATAAGAGTCACACATCTAC	0.433		NaN											0	0	0	0.001168	0	5	23				
MXD1	4084	broad.mit.edu	37	2	70164512	70164512	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:70164512C>G	uc002sfy.2	+	5	724	c.464C>G	c.(463-465)TCC>TGC	p.S155C	MXD1_uc010yqp.1_Missense_Mutation_p.S155C|MXD1_uc010yqq.1_Missense_Mutation_p.S92C|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.S145C	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	155					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						TCGGAGCGCTCCGACTCCGAC	0.627		NaN											0	0	0	0.006122	0	19	42				
ZAP70	7535	broad.mit.edu	37	2	98340656	98340656	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:98340656G>C	uc002syd.1	+	3	364	c.157G>C	c.(157-159)GAT>CAT	p.D53H	ZAP70_uc010yvf.1_Missense_Mutation_p.D53H|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	53	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCTCGTGCACGATGTGCGCTT	0.672		NaN											0	0	0	0.013537	0	13	11				
MGAT4A	11320	broad.mit.edu	37	2	99294780	99294780	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:99294780C>G	uc002sze.2	-	3	563	c.249G>C	c.(247-249)TTG>TTC	p.L83F	MGAT4A_uc010fil.2_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	83	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						AAAACTTATTCAACGCATCCT	0.249		NaN											0	0	0	0.004007	0	17	108				
MGAT4A	11320	broad.mit.edu	37	2	99294910	99294911	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:99294910_99294911TC>AT	uc002sze.2	-	3	432_433	c.118_119GA>AT	c.(118-120)GAA>ATA	p.E40I	MGAT4A_uc010fil.2_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	40	Lumenal (Potential).|Potential.				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						AGCAAGGAATTCTCGTTGATAA	0.337		NaN											0	0	0	0.004672	0	18	85				
GLI2	2736	broad.mit.edu	37	2	121744054	121744054	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:121744054G>A	uc010flp.2	+	12	2187	c.2157G>A	c.(2155-2157)CTG>CTA	p.L719L	GLI2_uc002tmq.1_Silent_p.L391L|GLI2_uc002tmr.1_Silent_p.L374L|GLI2_uc002tmt.3_Silent_p.L391L|GLI2_uc002tmu.3_Silent_p.L374L|GLI2_uc002tmw.1_Silent_p.L702L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	719				QL -> HV (in Ref. 4; BAA03568/BAA03569).	axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCCTCCAGCTGCGCAAACACA	0.657		NaN											0	0	0	0.001168	0	6	21				
ERCC3	2071	broad.mit.edu	37	2	128036775	128036775	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:128036775T>C	uc002toh.1	-	10	1799	c.1704A>G	c.(1702-1704)CTA>CTG	p.L568L	ERCC3_uc002toe.1_Silent_p.L323L|ERCC3_uc002tof.1_Silent_p.L504L|ERCC3_uc002tog.1_Silent_p.L504L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	568	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CATATTCCTTTAGGGCAAACA	0.428		NaN	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.00499	0	17	22				
GPR17	2840	broad.mit.edu	37	2	128408390	128408390	+	Silent	SNP	G	G	A	rs145234598		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:128408390G>A	uc010yzn.1	+	4	776	c.165G>A	c.(163-165)ACG>ACA	p.T55T	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T55T|GPR17_uc010yzo.1_Silent_p.T27T|GPR17_uc002tpd.2_Silent_p.T27T	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	55	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gccaggagacgccactggaga	0.1		NaN									OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.020292	0	14	56				
TTN	7273	broad.mit.edu	37	2	179448568	179448568	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:179448568G>C	uc010zfg.1	-	261	57861	c.57637C>G	c.(57637-57639)CCA>GCA	p.P19213A	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12908A|TTN_uc010zfi.1_Missense_Mutation_p.P12841A|TTN_uc010zfj.1_Missense_Mutation_p.P12716A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20140							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATGCTTTGGACGAGCCCAG	0.428		NaN											0	0	0	0.001168	0	6	10				
FN1	2335	broad.mit.edu	37	2	216237060	216237060	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:216237060G>C	uc002vfa.2	-	40	6552	c.6286C>G	c.(6286-6288)CTT>GTT	p.L2096V	FN1_uc002vfb.2_Missense_Mutation_p.L1915V|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Missense_Mutation_p.L2005V|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Missense_Mutation_p.L1915V|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.L2096V|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Missense_Mutation_p.L290V|FN1_uc010zjp.1_Missense_Mutation_p.L633V|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.L187V	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2005	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCATGAAGATTGGGGTGT	0.502		NaN											0	0	0	0.015359	0	34	29				
SPEG	10290	broad.mit.edu	37	2	220326632	220326632	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:220326632C>G	uc010fwg.2	+	7	2469	c.2469C>G	c.(2467-2469)CCC>CCG	p.P823P	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.P31P|SPEG_uc002vln.1_Silent_p.P31P|SPEG_uc002vlp.1_Silent_p.P31P|SPEG_uc002vlq.2_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	823					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGCAGCCCCATCACCTCCG	0.627		NaN											0	0	0	0.019004	0	36	46				
ITM2C	81618	broad.mit.edu	37	2	231738161	231738161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:231738161G>C	uc002vqz.2	+	2	270	c.150G>C	c.(148-150)AAG>AAC	p.K50N	ITM2C_uc002vra.2_Intron|ITM2C_uc002vrb.2_Missense_Mutation_p.K50N|ITM2C_uc002vrc.2_5'Flank|ITM2C_uc002vrd.2_5'Flank	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	50					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ATCGATCCAAGAGGGGGGGCT	0.612		NaN											0	0	0	0.001168	0	6	27				
COL6A3	1293	broad.mit.edu	37	2	238303321	238303321	+	Silent	SNP	A	A	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr2:238303321A>C	uc002vwl.2	-	3	903	c.618T>G	c.(616-618)CTT>CTG	p.L206L	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L206L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	206	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTATGTCATGAAGTGAGGTAA	0.433		NaN											0	0	0	0.008291	0	11	37				
MAP1LC3A	84557	broad.mit.edu	37	20	33147573	33147573	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:33147573C>T	uc002xaq.1	+	4	391	c.237C>T	c.(235-237)TTC>TTT	p.F79F	MAP1LC3A_uc002xap.1_Silent_p.F83F	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	79					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						CGCAGGCCTTCTTCCTGCTGG	0.632		NaN											0	0	0	0.021523	0	26	69				
GDF5	8200	broad.mit.edu	37	20	34022096	34022096	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:34022096G>A	uc002xck.1	-	2	1436	c.1117C>T	c.(1117-1119)CTG>TTG	p.L373L	GDF5_uc010gfc.1_Silent_p.L373L|uc002xcj.2_Silent_p.Q169Q|GDF5_uc010zvc.1_Silent_p.L373L	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	373			L -> R (in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGCTGAACAGGTACTCATAC	0.597		NaN											0	0	0	0.01441	0	57	114				
SAMHD1	25939	broad.mit.edu	37	20	35547851	35547851	+	Silent	SNP	T	T	C	rs140804613	byFrequency	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:35547851T>C	uc002xgh.1	-	7	898	c.768A>G	c.(766-768)CAA>CAG	p.Q256Q		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	256	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				TGAGACCATATTGTTCCATGA	0.358		NaN											0	0	0	0.013537	0	13	41				
NFATC2	4773	broad.mit.edu	37	20	50139915	50139915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:50139915C>T	uc002xwd.2	-	2	1085	c.865G>A	c.(865-867)GGC>AGC	p.G289S	NFATC2_uc002xwc.2_Missense_Mutation_p.G289S|NFATC2_uc010zyv.1_Missense_Mutation_p.G70S|NFATC2_uc010zyw.1_Missense_Mutation_p.G70S|NFATC2_uc010zyx.1_Missense_Mutation_p.G269S|NFATC2_uc010zyy.1_Missense_Mutation_p.G70S|NFATC2_uc010zyz.1_Missense_Mutation_p.G70S|NFATC2_uc002xwe.2_Missense_Mutation_p.G269S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	289					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GCCGGGGAGCCGTGGTCCTGG	0.711		NaN											0	0	0	0.014758	0	4	14				
GABPA	2551	broad.mit.edu	37	21	27130395	27130395	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:27130395A>G	uc002ylx.3	+	6	1155	c.628A>G	c.(628-630)ATA>GTA	p.I210V	GABPA_uc002yly.3_Missense_Mutation_p.I210V	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	210	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						CATGACCGATATAGACCTCAC	0.438		NaN											0	0	0	0.013537	0	11	68				
CLDN8	9073	broad.mit.edu	37	21	31587705	31587705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:31587705G>T	uc002ynu.1	-	1	614	c.539C>A	c.(538-540)GCT>GAT	p.A180D		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	180	Helical; (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GCAGAACAGAGCTCCTCCAAC	0.453		NaN											1	0	0.00909568	0.009096	0.00917594	4	65				
RIPK4	54101	broad.mit.edu	37	21	43161747	43161747	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:43161747C>T	uc002yzn.1	-	8	1654	c.1606G>A	c.(1606-1608)GAG>AAG	p.E536K		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	536						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						GTCCGGCCCTCAAAGTCCACC	0.647		NaN											0	0	0	0.00499	0	17	47				
UBASH3A	53347	broad.mit.edu	37	21	43836631	43836631	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:43836631G>C	uc002zbe.2	+	6	784	c.748G>C	c.(748-750)GAG>CAG	p.E250Q	UBASH3A_uc002zbf.2_Missense_Mutation_p.E212Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E212Q	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	250						cytosol|nucleus				ovary(3)	3						GAGGACGCTGGAGCAGCTGGC	0.597		NaN											0	0	0	0.003163	0	16	21				
PFKL	5211	broad.mit.edu	37	21	45746744	45746744	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:45746744G>A	uc002zel.2	+	22	2401	c.2342G>A	c.(2341-2343)TGA>TAA	p.*781*	PFKL_uc002zek.2_Silent_p.*828*|PFKL_uc002zem.2_Silent_p.*368*|PFKL_uc002zen.2_Silent_p.*368*	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	781					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		AAGGGCTTCTGAGGCCAGCCA	0.667		NaN											0	0	0	0.014758	0	5	4				
TRPM2	7226	broad.mit.edu	37	21	45811248	45811248	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr21:45811248G>A	uc002zet.1	+	12	1747	c.1534G>A	c.(1534-1536)GAG>AAG	p.E512K	TRPM2_uc002zeu.1_Missense_Mutation_p.E512K|TRPM2_uc002zew.1_Missense_Mutation_p.E512K|TRPM2_uc010gpt.1_Missense_Mutation_p.E512K|TRPM2_uc002zex.1_Missense_Mutation_p.E298K|TRPM2_uc002zey.1_Missense_Mutation_p.E25K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	512	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCAGCTGAAGGAGTTTGTCAC	0.567		NaN											0	0	0	0.013726	0	33	60				
POTEH	23784	broad.mit.edu	37	22	16287675	16287675	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:16287675A>G	uc010gqp.2	-	1	263	c.211T>C	c.(211-213)TGG>CGG	p.W71R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	71										skin(1)	1						CCCCTGCACCAGGGGAAGCAG	0.582		NaN											0	0	0	0.01441	0	53	140				
MRPL40	64976	broad.mit.edu	37	22	19423455	19423455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:19423455G>C	uc002zpg.2	+	4	633	c.591G>C	c.(589-591)AAG>AAC	p.K197N	HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.K153N	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40 precursor	197					anatomical structure morphogenesis	mitochondrial ribosome|nucleus					0	Colorectal(54;0.0993)					ACATCACCAAGGTGTACACAC	0.502		NaN											0	0	0	0.010729	0	11	50				
TCN2	6948	broad.mit.edu	37	22	31010392	31010392	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:31010392C>G	uc003aip.1	+	4	642	c.484C>G	c.(484-486)CTG>GTG	p.L162V	TCN2_uc003aiq.1_Missense_Mutation_p.L158V|TCN2_uc003air.1_Missense_Mutation_p.L135V	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	162					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGGGCATTCTGGCCCTGTG	0.577		NaN											0	0	0	0.007291	0	29	25				
CACNG2	10369	broad.mit.edu	37	22	37098579	37098579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:37098579C>T	uc003aps.1	-	1	325	c.43G>A	c.(43-45)GTT>ATT	p.V15I	uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	15	Helical; (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0						AAAGCACCAACGGTGGTTAAA	0.478		NaN											0	0	0	0.01441	0	57	60				
MCHR1	2847	broad.mit.edu	37	22	41077323	41077323	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:41077323C>T	uc003ayz.2	+	2	928	c.660C>T	c.(658-660)TCC>TCT	p.S220S	MCHR1_uc003aza.2_Silent_p.S109S	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	220	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						CCATCTCTTCCACGAAGTTCC	0.587		NaN											0	0	0	0.004656	0	26	51				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:44083357C>T	uc003bdy.1	-	11	1351	c.1136G>A	c.(1135-1137)AGA>AAA	p.R379K	EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308		NaN											0	0	0	0.016723	0	13	24				
CLASP2	23122	broad.mit.edu	37	3	33626305	33626305	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:33626305T>C	uc003cfu.2	-	22	2530	c.2176A>G	c.(2176-2178)AGA>GGA	p.R726G	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.R319G	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	727										ovary(3)|central_nervous_system(1)	4						ATCTTGCTTCTTTTTTGTGCT	0.473		NaN											0	0	0	0.008361	0	31	38				
SCN10A	6336	broad.mit.edu	37	3	38743492	38743492	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743492C>G	uc003ciq.2	-	26	4495	c.4495G>C	c.(4495-4497)GAC>CAC	p.D1499H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1499	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTTTGGTCATCAGTCTCC	0.458		NaN											0	0	0	0.009535	0	31	89				
SCN10A	6336	broad.mit.edu	37	3	38743576	38743576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743576C>G	uc003ciq.2	-	26	4411	c.4411G>C	c.(4411-4413)GAC>CAC	p.D1471H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1471	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCACGATGTCAAAGACAAAA	0.458		NaN											0	0	0	0.007413	0	17	80				
SCN10A	6336	broad.mit.edu	37	3	38743601	38743601	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:38743601C>G	uc003ciq.2	-	26	4387	c.4387_splice	c.e26-1	p.N1463_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha						sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAACTTGTTCTGAGAAAACA	0.468		NaN											0	0	0	0.00499	0	16	66				
NKTR	4820	broad.mit.edu	37	3	42678832	42678832	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:42678832C>G	uc003clo.2	+	13	1783	c.1636C>G	c.(1636-1638)CGA>GGA	p.R546G	NKTR_uc003clm.1_Missense_Mutation_p.R293G|NKTR_uc003clp.2_Missense_Mutation_p.R293G|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R436G|NKTR_uc003clr.1_Missense_Mutation_p.R293G|NKTR_uc003cls.2_Missense_Mutation_p.R246G	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	546	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCACATTCTCGAAGTAGATC	0.418		NaN											0	0	0	0.005524	0	39	117				
IQCF2	389123	broad.mit.edu	37	3	51895685	51895685	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:51895685G>C	uc003dbt.1	+	1	41	c.3G>C	c.(1-3)ATG>ATC	p.M1I	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	1											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACAGGCCATGAGGGTTCGAT	0.483		NaN											0	0	0	0.010504	0	18	26				
FLNB	2317	broad.mit.edu	37	3	58088057	58088057	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:58088057G>A	uc003djj.2	+	9	1638	c.1473G>A	c.(1471-1473)ATG>ATA	p.M491I	FLNB_uc010hne.2_Missense_Mutation_p.M491I|FLNB_uc003djk.2_Missense_Mutation_p.M491I|FLNB_uc010hnf.2_Missense_Mutation_p.M491I|FLNB_uc003djl.2_Missense_Mutation_p.M322I|FLNB_uc003djm.2_Missense_Mutation_p.M322I	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	491	Filamin 3.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGTAACCATGAAGGGTCCTA	0.522		NaN											0	0	0	0.013726	0	35	47				
IMPG2	50939	broad.mit.edu	37	3	100992518	100992518	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:100992518G>A	uc003duq.1	-	7	938	c.735C>T	c.(733-735)TTC>TTT	p.F245F	IMPG2_uc011bhe.1_Silent_p.F108F	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	245	Extracellular (Potential).|SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGTGGATACTGAATTCTGCAA	0.403		NaN											0	0	0	0.008291	0	11	24				
COPG	22820	broad.mit.edu	37	3	128979195	128979195	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:128979195C>T	uc003els.2	+	11	991	c.891C>T	c.(889-891)AGC>AGT	p.S297S	COPG_uc010htb.2_Silent_p.S203S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	297	HEAT 2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TTTTCTGCAGCTCACCCAAGG	0.562		NaN											0	0	0	0.021523	0	21	101				
SLCO2A1	6578	broad.mit.edu	37	3	133698434	133698434	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:133698434T>A	uc003eqa.3	-	2	399	c.125A>T	c.(124-126)CAG>CTG	p.Q42L	SLCO2A1_uc003eqb.3_Missense_Mutation_p.Q42L|SLCO2A1_uc011blv.1_Missense_Mutation_p.Q42L|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	42	Helical; Name=1; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TTGGCAGAGCTGCAGGAGGCC	0.587		NaN											0	0	0	0.00632	0	27	74				
STAG1	10274	broad.mit.edu	37	3	136192446	136192446	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:136192446G>C	uc003era.1	-	11	1352	c.1060C>G	c.(1060-1062)CTG>GTG	p.L354V	STAG1_uc003erb.1_Missense_Mutation_p.L354V|STAG1_uc003erc.1_Missense_Mutation_p.L128V|STAG1_uc010hua.1_Missense_Mutation_p.L217V	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	354	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AGACTCTGCAGAGCTTTCAAA	0.338		NaN											0	0	0	0.014323	0	22	49				
PLOD2	5352	broad.mit.edu	37	3	145790403	145790403	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:145790403T>A	uc003evs.1	-	16	2236	c.1730A>T	c.(1729-1731)GAT>GTT	p.D577V	PLOD2_uc003evq.1_Missense_Mutation_p.D258V|PLOD2_uc011bnm.1_Missense_Mutation_p.D543V|PLOD2_uc003evr.1_Missense_Mutation_p.D598V	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	577					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TACCAATTCATCACAGGCTTT	0.343		NaN											0	0	0	0.016723	0	12	39				
ZIC1	7545	broad.mit.edu	37	3	147128322	147128322	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:147128322C>G	uc003ewe.2	+	1	1142	c.423C>G	c.(421-423)CTC>CTG	p.L141L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	141					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CGGGCCACCTCCTCTTCCCCG	0.726		NaN											0	0	0	0.004672	0	3	18				
TNIK	23043	broad.mit.edu	37	3	170858210	170858210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:170858210C>T	uc003fhh.2	-	13	1655	c.1310G>A	c.(1309-1311)AGG>AAG	p.R437K	TNIK_uc003fhi.2_Missense_Mutation_p.R437K|TNIK_uc003fhj.2_Missense_Mutation_p.R437K|TNIK_uc003fhk.2_Missense_Mutation_p.R437K|TNIK_uc003fhl.2_Missense_Mutation_p.R437K|TNIK_uc003fhm.2_Missense_Mutation_p.R437K|TNIK_uc003fhn.2_Missense_Mutation_p.R437K|TNIK_uc003fho.2_Missense_Mutation_p.R437K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	437	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGCACGCCTCCTCTCCTCCTC	0.662		NaN											0	0	0	0.01441	0	52	108				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr3:178952085A>T	uc003fjk.2	+	21	3297	c.3140A>T	c.(3139-3141)CAT>CTT	p.H1047L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.005524	0	41	55		Valid		
HGFAC	3083	broad.mit.edu	37	4	3446124	3446124	+	Missense_Mutation	SNP	G	G	C	rs138611679		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:3446124G>C	uc003ghc.2	+	6	688	c.685G>C	c.(685-687)GAG>CAG	p.E229Q	HGFAC_uc010icw.2_Missense_Mutation_p.E229Q	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	229	Fibronectin type-I.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGAACAGTGCGAGTGCTTCGG	0.677		NaN											0	0	0	0.004672	0	3	6				
RELL1	768211	broad.mit.edu	37	4	37687844	37687844	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:37687844C>T	uc003gsz.2	-	1	156	c.66G>A	c.(64-66)GTG>GTA	p.V22V	RELL1_uc010ifc.2_Silent_p.V22V	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	22						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						GCGGCGAACTCACGGCGCCTC	0.761		NaN											0	0	0	0.014758	0	3	8				
AASDH	132949	broad.mit.edu	37	4	57221444	57221444	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:57221444T>C	uc003hbn.2	-	6	1160	c.1007A>G	c.(1006-1008)AAT>AGT	p.N336S	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.N183S|AASDH_uc003hbo.2_Missense_Mutation_p.N236S|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.N336S|AASDH_uc003hbp.2_Missense_Mutation_p.N336S	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	336					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTGTGTTTTATTGCCTTCTCC	0.403		NaN											0	0	0	0.010818	0	31	139				
ENAM	10117	broad.mit.edu	37	4	71500192	71500193	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:71500192_71500193CC>AA	uc011caw.1	+	6	659_660	c.378_379CC>AA	c.(376-381)AACCAG>AAAAAG	p.126_127NQ>KK		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	126_127					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AGAAACCCAACCAGACTCAGTC	0.52		NaN											0	0	0	0.004672	0	11	24				
ENAM	10117	broad.mit.edu	37	4	71500195	71500195	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:71500195G>A	uc011caw.1	+	6	662	c.381G>A	c.(379-381)CAG>CAA	p.Q127Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	127					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AACCCAACCAGACTCAGTCAA	0.522		NaN											0	0	0	0.012319	0	11	23				
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:80328580C>T	uc003hlu.2	-	1	793	c.775G>A	c.(775-777)GAC>AAC	p.D259N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	259		Substrate (By similarity).			glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GCACATTGGTCCCCCAAACAC	0.458		NaN											0	0	0	0.00632	0	29	68				
GALNTL6	442117	broad.mit.edu	37	4	173150860	173150860	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr4:173150860G>C	uc003isv.2	+	3	928	c.192G>C	c.(190-192)TTG>TTC	p.L64F		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	64	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CAGATGGTTTGAGAAGAAAGG	0.443		NaN											0	0	0	0.00308	0	7	23				
BRD9	65980	broad.mit.edu	37	5	887497	887497	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:887497T>A	uc003jbq.2	-	6	863	c.696A>T	c.(694-696)GCA>GCT	p.A232A	BRD9_uc003jbl.2_Silent_p.A116A|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.A179A|BRD9_uc003jbo.2_Silent_p.A116A|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	232							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTTAAAGCCTGCGTGAAGGA	0.498		NaN											0	0	0	0.005443	0	23	130				
LPCAT1	79888	broad.mit.edu	37	5	1479749	1479749	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:1479749T>A	uc003jcm.2	-	8	920	c.803A>T	c.(802-804)CAA>CTA	p.Q268L		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	268	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GATTTCCACTTGGTTGTGAAA	0.448		NaN									OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	11	26				
IRX4	50805	broad.mit.edu	37	5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:1879903G>A	uc003jcz.2	-	4	570	c.451C>T	c.(451-453)CGC>TGC	p.R151C	IRX4_uc011cmf.1_Missense_Mutation_p.R12C	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	151	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637		NaN											0	0	0	0.010504	0	21	38				
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:10461368C>T	uc003jex.3	+	4	761	c.490C>T	c.(490-492)CCC>TCC	p.P164S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	164					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CGCTCGCATCCCCTTCAAGAC	0.567		NaN											0	0	0	0.00499	0	18	105				
LMBRD2	92255	broad.mit.edu	37	5	36143342	36143342	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:36143342C>G	uc003jkb.1	-	2	525	c.110G>C	c.(109-111)GGA>GCA	p.G37A		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	37	Helical; (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGTGTTCCAATAATCAC	0.363		NaN											0	0	0	0.004007	0	16	44				
C5orf42	65250	broad.mit.edu	37	5	37195984	37195984	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:37195984C>T	uc011cpa.1	-	21	4018	c.3787G>A	c.(3787-3789)GAT>AAT	p.D1263N	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D338N|C5orf42_uc011cpb.1_Missense_Mutation_p.D144N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1263										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAAACTTCATCAAGCTTGTGG	0.378		NaN											0	0	0	0.006214	0	10	70				
EMB	133418	broad.mit.edu	37	5	49695706	49695706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:49695706C>T	uc003jom.2	-	8	1202	c.953G>A	c.(952-954)AGG>AAG	p.R318K	EMB_uc010ivq.2_Missense_Mutation_p.R112K|EMB_uc003jol.2_Missense_Mutation_p.R249K|EMB_uc011cpy.1_Missense_Mutation_p.R268K|EMB_uc010ivr.2_Missense_Mutation_p.R264K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	318	Cytoplasmic (Potential).					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTCTATGCCTGGGGACATT	0.269		NaN											0	0	0	0.001984	0	7	44				
RNF180	285671	broad.mit.edu	37	5	63509826	63509826	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:63509826C>A	uc003jti.2	+	4	783	c.673C>A	c.(673-675)CAT>AAT	p.H225N	RNF180_uc003jth.3_Missense_Mutation_p.H225N|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	225	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGAGCTTTTCATAGAAAATC	0.388		NaN											1	0	1.08312e-15	0.009535	1.21013e-15	31	46				
MAN2A1	4124	broad.mit.edu	37	5	109152978	109152978	+	Missense_Mutation	SNP	C	C	T	rs142458296		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:109152978C>T	uc003kou.1	+	13	2911	c.1948C>T	c.(1948-1950)CTT>TTT	p.L650F		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	650	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGCAGGTACCTTGTGGTCTA	0.318		NaN											0	0	0	0.016723	0	11	81				
PCDHA6	56142	broad.mit.edu	37	5	140208233	140208233	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140208233G>A	uc003lho.2	+	1	584	c.557G>A	c.(556-558)AGT>AAT	p.S186N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S186N|PCDHA6_uc011dab.1_Missense_Mutation_p.S186N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	186	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATAAACAGTGATGACAAT	0.443		NaN											0	0	0	0.012213	0	34	56				
PCDHA12	56137	broad.mit.edu	37	5	140256681	140256681	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140256681G>T	uc003lic.2	+	1	1751	c.1624G>T	c.(1624-1626)GTG>TTG	p.V542L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V542L	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	542	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCCGGCGTGCCGCCTCT	0.701		NaN											1	0	2.24893e-16	0.009718	2.52086e-16	43	79				
PCDHA13	56136	broad.mit.edu	37	5	140263756	140263756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140263756C>T	uc003lif.2	+	1	1903	c.1903C>T	c.(1903-1905)CGC>TGC	p.R635C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R635C|PCDHA13_uc003lid.2_Missense_Mutation_p.R635C	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACGCGCCCTCTGGA	0.677		NaN											0	0	0	0.00623	0	42	50				
PCDHB12	56124	broad.mit.edu	37	5	140589944	140589944	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:140589944T>A	uc003liz.2	+	1	1654	c.1465T>A	c.(1465-1467)TCG>ACG	p.S489T	PCDHB12_uc011dak.1_Missense_Mutation_p.S152T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	489	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCAACTACTCGCTGCTGCC	0.657		NaN											0	0	0	0.00499	0	16	102				
KIF4B	285643	broad.mit.edu	37	5	154396083	154396083	+	Silent	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:154396083G>T	uc010jih.1	+	1	2824	c.2664G>T	c.(2662-2664)CTG>CTT	p.L888L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	888	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAACAGCCTGAGACAGAGCA	0.438		NaN											1	0	4.35082e-09	0.010504	4.69286e-09	20	34				
ODZ2	57451	broad.mit.edu	37	5	167674760	167674760	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:167674760G>C	uc010jjd.2	+	27	6789	c.6789G>C	c.(6787-6789)CAG>CAC	p.Q2263H	ODZ2_uc003lzr.3_Missense_Mutation_p.Q2033H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1636H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1527H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ATCTGTGCCAGAGAGGGTCTG	0.542		NaN											0	0	0	0.010729	0	12	58				
GRK6	2870	broad.mit.edu	37	5	176863486	176863486	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr5:176863486C>T	uc011dfz.1	+	13	1519	c.1359C>T	c.(1357-1359)TTC>TTT	p.F453F	GRK6_uc003mgp.2_Silent_p.F453F|GRK6_uc003mgq.2_Silent_p.F453F|GRK6_uc003mgs.1_Silent_p.F423F	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	453	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGAACTTCAAGCGGCTGG	0.672		NaN											0	0	0	0.008871	0	20	32				
RIPK1	8737	broad.mit.edu	37	6	3077181	3077181	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:3077181A>G	uc010jni.2	+	2	356	c.124A>G	c.(124-126)ATG>GTG	p.M42V	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Missense_Mutation_p.M42V|RIPK1_uc003mux.2_Missense_Mutation_p.M42V	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	42	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCAGGGACTCATGATCATGAA	0.527		NaN											0	0	0	0.006122	0	17	33				
GCNT2	2651	broad.mit.edu	37	6	10626656	10626656	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:10626656A>G	uc010joo.2	+	5	1576	c.1025A>G	c.(1024-1026)TAT>TGT	p.Y342C	GCNT2_uc010jol.2_Missense_Mutation_p.Y56C|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Missense_Mutation_p.Y341C|GCNT2_uc003mzd.2_Missense_Mutation_p.Y340C|GCNT2_uc003mze.2_Missense_Mutation_p.Y342C	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	342	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAGGCCACTATGTACATGGT	0.398		NaN											0	0	0	0.00499	0	17	167				
TMEM14C	51522	broad.mit.edu	37	6	10726149	10726149	+	Missense_Mutation	SNP	C	C	T	rs146638335		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:10726149C>T	uc003mzh.2	+	4	288	c.107C>T	c.(106-108)CCG>CTG	p.P36L	TMEM14C_uc010joq.1_Missense_Mutation_p.P36L|TMEM14C_uc003mzi.2_Missense_Mutation_p.P36L	NM_016462	NP_057546	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	36	Helical; (Potential).				heme biosynthetic process	integral to membrane|mitochondrial membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			GGCAGCGTGCCGTCCCTGGCT	0.547		NaN											0	0	0	0.013537	0	11	178				
DEK	7913	broad.mit.edu	37	6	18256002	18256002	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:18256002C>G	uc003ncr.1	-	6	726	c.533G>C	c.(532-534)AGG>ACG	p.R178T	DEK_uc011djf.1_Missense_Mutation_p.R144T|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	178	SAP.				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			ATTCAAGATCCTCTTCACTAG	0.333		NaN	T	NUP214	AML								0	0	0	0.020292	0	14	231				
PGBD1	84547	broad.mit.edu	37	6	28269137	28269137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:28269137C>G	uc003nky.2	+	7	1876	c.1506C>G	c.(1504-1506)TTC>TTG	p.F502L	PGBD1_uc003nkz.2_Missense_Mutation_p.F502L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	502					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AATTGATTTTCTCAAACCTGC	0.373		NaN											0	0	0	0.01441	0	47	117				
PGBD1	84547	broad.mit.edu	37	6	28269477	28269477	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:28269477G>A	uc003nky.2	+	7	2216	c.1846G>A	c.(1846-1848)GAG>AAG	p.E616K	PGBD1_uc003nkz.2_Missense_Mutation_p.E616K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	616					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						TGTTCTTTTAGAGAGAGGTCA	0.418		NaN											0	0	0	0.01441	0	50	115				
VPS52	6293	broad.mit.edu	37	6	33235699	33235699	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:33235699C>G	uc003odm.1	-	9	1086	c.876G>C	c.(874-876)CTG>CTC	p.L292L	VPS52_uc003odn.1_Silent_p.L167L|VPS52_uc003odo.1_Silent_p.L217L|VPS52_uc011dqy.1_Silent_p.L167L|VPS52_uc011dqz.1_Silent_p.L167L	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	292					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						AAATCTTGCTCAGCGTCTCCA	0.522		NaN											0	0	0	0.008361	0	29	44				
DST	667	broad.mit.edu	37	6	56464869	56464869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:56464869C>A	uc003pdf.2	-	39	5363	c.5335G>T	c.(5335-5337)GAG>TAG	p.E1779*	DST_uc003pcz.3_Nonsense_Mutation_p.E1601*|DST_uc011dxj.1_Nonsense_Mutation_p.E1630*|DST_uc011dxk.1_Nonsense_Mutation_p.E1641*|DST_uc003pcy.3_Nonsense_Mutation_p.E1275*|DST_uc010kaa.1_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3687					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTCTACCTCTTGCTTGGAC	0.358		NaN											1	0	2.17888e-05	0.006214	2.25107e-05	9	65				
TMEM200A	114801	broad.mit.edu	37	6	130762710	130762710	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:130762710G>T	uc003qca.2	+	3	2014	c.1143G>T	c.(1141-1143)CAG>CAT	p.Q381H	TMEM200A_uc010kfh.2_Missense_Mutation_p.Q381H|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q381H|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q381H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	381	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAGAAGACAGTTTGGGTCCA	0.522		NaN											1	0	2.35188e-11	0.006122	2.58556e-11	19	35				
KIAA1244	57221	broad.mit.edu	37	6	138645190	138645190	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:138645190G>C	uc003qhu.2	+	31	4900	c.4900G>C	c.(4900-4902)GAG>CAG	p.E1634Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1634					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGGCACGGAGAGCTTCAG	0.652		NaN											0	0	0	0.020292	0	14	37				
GRM1	2911	broad.mit.edu	37	6	146673612	146673612	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:146673612G>C	uc010khw.1	+	5	1883	c.1413G>C	c.(1411-1413)GAG>GAC	p.E471D	GRM1_uc010khv.1_Missense_Mutation_p.E471D|GRM1_uc003qll.2_Missense_Mutation_p.E471D|GRM1_uc011edz.1_Missense_Mutation_p.E471D|GRM1_uc011eea.1_Missense_Mutation_p.E471D	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	471	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGTTTGATGAGAAAGGAGACG	0.493		NaN											0	0	0	0.01441	0	54	110				
TIAM2	26230	broad.mit.edu	37	6	155485726	155485726	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr6:155485726C>T	uc003qqb.2	+	10	3479	c.2206C>T	c.(2206-2208)CAT>TAT	p.H736Y	TIAM2_uc003qqe.2_Missense_Mutation_p.H736Y|TIAM2_uc010kjj.2_Missense_Mutation_p.H269Y|TIAM2_uc003qqf.2_Missense_Mutation_p.H88Y|TIAM2_uc011efl.1_Missense_Mutation_p.H48Y|TIAM2_uc003qqg.2_Missense_Mutation_p.H48Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	736					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCTCTTTCCATGCTCTGGT	0.597		NaN											0	0	0	0.016522	0	23	117				
TXNDC3	51314	broad.mit.edu	37	7	37934072	37934072	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:37934072G>C	uc003tfn.2	+	16	1776	c.1404G>C	c.(1402-1404)CAG>CAC	p.Q468H		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	468	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCTTAGAGCAGATCCTGAAGA	0.328		NaN							Kartagener_syndrome				0	0	0	0.016723	0	13	40				
SEMA3D	223117	broad.mit.edu	37	7	84628906	84628906	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:84628906G>A	uc003uic.2	-	17	2224	c.2184C>T	c.(2182-2184)GAC>GAT	p.D728D	SEMA3D_uc010led.2_Silent_p.D728D|SEMA3D_uc003uib.2_Silent_p.D367D	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	728					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CGCAGTACTGGTCGAGGCTGA	0.502		NaN											0	0	0	0.004007	0	17	64				
PON3	5446	broad.mit.edu	37	7	94989396	94989396	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:94989396G>A	uc003unt.2	-	9	979	c.954C>T	c.(952-954)ACC>ACT	p.T318T	PON1_uc011kih.1_Intron	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	318					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGCATACACGGTGCTCACCC	0.443		NaN											0	0	0	0.008361	0	30	46				
TECPR1	25851	broad.mit.edu	37	7	97862208	97862208	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:97862208G>A	uc003upg.2	-	12	1954	c.1749C>T	c.(1747-1749)TTC>TTT	p.F583F	TECPR1_uc003uph.1_Silent_p.F513F	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	583						integral to membrane	protein binding			pancreas(1)	1						TGAGCTGCTGGAAGATCTGCT	0.632		NaN											0	0	0	0.014758	0	5	21				
LAMB1	3912	broad.mit.edu	37	7	107601691	107601691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:107601691G>A	uc003vew.2	-	17	2404	c.2069C>T	c.(2068-2070)TCT>TTT	p.S690F	LAMB1_uc003vev.2_Missense_Mutation_p.S714F|LAMB1_uc003vex.2_Missense_Mutation_p.S690F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	690	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGCTATCAGAGGAGGTGTA	0.547		NaN											0	0	0	0.013537	0	11	51				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	0.01441	0	11	34				
ZC3HC1	51530	broad.mit.edu	37	7	129688905	129688905	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:129688905C>G	uc003vpi.2	-	2	253	c.226G>C	c.(226-228)GAA>CAA	p.E76Q		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	76					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					AAGAAGGCTTCTTTGCTTGTA	0.408		NaN											0	0	0	0.013726	0	32	61				
DENND2A	27147	broad.mit.edu	37	7	140255469	140255469	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:140255469C>G	uc010lnj.2	-	10	2149	c.2004G>C	c.(2002-2004)GTG>GTC	p.V668V	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.V668V|DENND2A_uc003vvw.2_Silent_p.V668V|DENND2A_uc003vvx.2_Silent_p.V668V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	668	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CCAGGCGGCTCACAATGCAGT	0.522		NaN											0	0	0	0.012319	0	20	72				
C7orf33	202865	broad.mit.edu	37	7	148312489	148312489	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:148312489G>A	uc003wew.2	+	3	891	c.530G>A	c.(529-531)AGT>AAT	p.S177N		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	177										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACTGACAGCAGTTAAGAATTT	0.378		NaN											0	0	0	0.008871	0	20	72				
KRBA1	84626	broad.mit.edu	37	7	149421876	149421876	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:149421876C>G	uc003wfz.2	+	9	1461	c.1062C>G	c.(1060-1062)CTC>CTG	p.L354L	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L22L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	354										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCAGCCCCTCAGTCCCTCAG	0.562		NaN											0	0	0	0.009096	0	4	7				
MLL3	58508	broad.mit.edu	37	7	151902229	151902229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:151902229G>C	uc003wla.2	-	25	4142	c.3923C>G	c.(3922-3924)TCA>TGA	p.S1308*	MLL3_uc003wkz.2_Nonsense_Mutation_p.S369*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1308					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATAGAGCCTGAGGAATCTTT	0.358		NaN	N		medulloblastoma								0	0	0	0.014758	0	5	25		Valid		
DPP6	1804	broad.mit.edu	37	7	154659794	154659794	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr7:154659794G>T	uc003wlk.2	+	18	1933	c.1804G>T	c.(1804-1806)GAT>TAT	p.D602Y	DPP6_uc003wli.2_Missense_Mutation_p.D538Y|DPP6_uc003wlm.2_Missense_Mutation_p.D540Y|DPP6_uc011kvq.1_Missense_Mutation_p.D495Y	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	602	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTGAGATTGATGATTACAG	0.413		NaN											1	0	0.00909568	0.009096	0.00917594	4	12				
DLC1	10395	broad.mit.edu	37	8	12957784	12957784	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:12957784A>T	uc003wwm.2	-	9	2506	c.2062T>A	c.(2062-2064)TCA>ACA	p.S688T	DLC1_uc003wwk.1_Missense_Mutation_p.S251T|DLC1_uc003wwl.1_Missense_Mutation_p.S285T|DLC1_uc011kxx.1_Missense_Mutation_p.S177T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	688					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CCCAGCTTTGAGGGCGCTTTG	0.562		NaN											0	0	0	0.007413	0	19	28				
ST18	9705	broad.mit.edu	37	8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:53126796T>C	uc003xqz.2	-	2	178	c.22A>G	c.(22-24)AAA>GAA	p.K8E	ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.K8E|ST18_uc003xrb.2_Missense_Mutation_p.K8E|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428		NaN											0	0	0	0.007291	0	29	47				
RPS20	6224	broad.mit.edu	37	8	56986683	56986683	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:56986683C>T	uc003xsn.2	-	2	237	c.39G>A	c.(37-39)CCG>CCA	p.P13P	RPS20_uc003xsm.2_Silent_p.P13P|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_5'Flank	NM_001023	NP_001014	P60866	RS20_HUMAN	ribosomal protein S20 isoform 2	13					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTGCCACCTCCGGCTCCACGG	0.463		NaN											0	0	0	0.010729	0	11	98				
PENK	5179	broad.mit.edu	37	8	57354059	57354059	+	Silent	SNP	G	G	A	rs145346210		TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:57354059G>A	uc003xsz.2	-	2	657	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PENK_uc003xta.3_Silent_p.G192G	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	192					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCTCTTTAAGCCTCTCATGA	0.527		NaN											0	0	0	0.01441	0	60	78				
PREX2	80243	broad.mit.edu	37	8	69005891	69005891	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:69005891C>T	uc003xxv.1	+	21	2329	c.2302C>T	c.(2302-2304)CTT>TTT	p.L768F	PREX2_uc003xxu.1_Missense_Mutation_p.L768F|PREX2_uc011lez.1_Missense_Mutation_p.L703F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	768					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L768I(1)		skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TCAAGAAGACCTTCAAAAATC	0.408		NaN											0	0	0	0.00499	0	18	141				
EYA1	2138	broad.mit.edu	37	8	72211939	72211939	+	Silent	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:72211939T>A	uc003xys.3	-	7	860	c.573A>T	c.(571-573)ACA>ACT	p.T191T	EYA1_uc003xyr.3_Silent_p.T186T|EYA1_uc003xyt.3_Silent_p.T158T|EYA1_uc010lzf.2_Silent_p.T118T|EYA1_uc003xyu.2_Silent_p.T191T|EYA1_uc011lfe.1_Silent_p.T185T|EYA1_uc003xyv.2_Silent_p.T69T	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	191					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCCTGATGATGTTGTAAAAC	0.318		NaN											0	0	0	0.020292	0	13	91				
JPH1	56704	broad.mit.edu	37	8	75156998	75156998	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:75156998C>T	uc003yae.2	-	4	1711	c.1671G>A	c.(1669-1671)CTG>CTA	p.L557L	JPH1_uc003yaf.2_Silent_p.L557L|JPH1_uc003yag.1_Silent_p.L421L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	557	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGGGGGCGTTCAGCTTCACGT	0.602		NaN											0	0	0	0.006122	0	18	97				
MATN2	4147	broad.mit.edu	37	8	98943551	98943551	+	Silent	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:98943551G>C	uc003yic.2	+	3	744	c.513G>C	c.(511-513)GGG>GGC	p.G171G	MATN2_uc003yib.1_Silent_p.G171G|MATN2_uc010mbh.1_Silent_p.G171G|MATN2_uc003yid.2_Silent_p.G171G|MATN2_uc003yie.1_Silent_p.G171G|MATN2_uc010mbi.1_Silent_p.G45G	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	171	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGACAGATGGGAGACCTCAGG	0.582		NaN											0	0	0	0.006214	0	7	31				
RGS22	26166	broad.mit.edu	37	8	101074892	101074892	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:101074892C>G	uc003yjb.1	-	9	1636	c.1441G>C	c.(1441-1443)GAT>CAT	p.D481H	RGS22_uc003yja.1_Missense_Mutation_p.D300H|RGS22_uc003yjc.1_Missense_Mutation_p.D469H|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	481					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGATCCATCTAACAGTTTA	0.308		NaN											0	0	0	0.001168	0	5	115				
RGS22	26166	broad.mit.edu	37	8	101074973	101074973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:101074973C>T	uc003yjb.1	-	9	1555	c.1360G>A	c.(1360-1362)GAG>AAG	p.E454K	RGS22_uc003yja.1_Missense_Mutation_p.E273K|RGS22_uc003yjc.1_Missense_Mutation_p.E442K|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	454					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCATCTTCTCAAGATGTCTG	0.313		NaN											0	0	0	0.014758	0	5	92				
LRP12	29967	broad.mit.edu	37	8	105511547	105511547	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:105511547G>A	uc003yma.2	-	4	568	c.473C>T	c.(472-474)TCA>TTA	p.S158L	LRP12_uc003ymb.2_Missense_Mutation_p.S139L	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	158	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACACACCTGAAAAATATGC	0.353		NaN											0	0	0	0.004482	0	8	123				
COL22A1	169044	broad.mit.edu	37	8	139691860	139691860	+	Silent	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:139691860C>T	uc003yvd.2	-	40	3519	c.3072G>A	c.(3070-3072)AAG>AAA	p.K1024K	COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1024	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACTGACCTTAACACATT	0.348		NaN								HNSCC(7;0.00092)			0	0	0	0.013537	0	12	70				
SHARPIN	81858	broad.mit.edu	37	8	145154091	145154091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:145154091G>A	uc003zba.2	-	7	1424	c.940C>T	c.(940-942)CAG>TAG	p.Q314*	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	314					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGGTGCTGAGGGCTAGGT	0.672		NaN											0	0	0	0.016723	0	13	18				
ZNF7	7553	broad.mit.edu	37	8	146068516	146068516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:146068516C>G	uc003zeg.3	+	5	2161	c.2024C>G	c.(2023-2025)TCA>TGA	p.S675*	ZNF7_uc010mge.2_Nonsense_Mutation_p.S686*|ZNF7_uc011lln.1_Nonsense_Mutation_p.S579*|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Nonsense_Mutation_p.S579*|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	675	C2H2-type 15.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATCGTAGCTCAAGGCTTACC	0.358		NaN											0	0	0	0.01441	0	62	83				
RFX3	5991	broad.mit.edu	37	9	3263030	3263030	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:3263030G>A	uc003zhr.2	-	14	1822	c.1510C>T	c.(1510-1512)CAC>TAC	p.H504Y	RFX3_uc010mhd.2_Missense_Mutation_p.H504Y|RFX3_uc003zhs.1_Missense_Mutation_p.H504Y	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	504					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGGGCCAGGTGATTAAGCGAC	0.493		NaN											0	0	0	0.00623	0	42	38				
GLIS3	169792	broad.mit.edu	37	9	4118290	4118290	+	Silent	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:4118290T>C	uc003zhw.1	-	3	917	c.723A>G	c.(721-723)CAA>CAG	p.Q241Q	GLIS3_uc003zhx.1_Silent_p.Q396Q|GLIS3_uc003zic.1_Silent_p.Q396Q|GLIS3_uc003zie.1_Silent_p.Q396Q|GLIS3_uc010mhh.1_Silent_p.Q271Q|GLIS3_uc003zid.1_Silent_p.Q174Q|GLIS3_uc010mhi.1_Silent_p.Q203Q|GLIS3_uc003zif.1_Silent_p.Q174Q|GLIS3_uc003zig.1_Silent_p.Q240Q|GLIS3_uc003zih.1_Silent_p.Q174Q|GLIS3_uc003zhy.1_Silent_p.Q174Q|GLIS3_uc003zhz.1_Silent_p.Q174Q|GLIS3_uc003zib.1_Silent_p.Q240Q|GLIS3_uc010mhg.1_Silent_p.Q174Q	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	241					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCTCCAGCTGTTGCATGCGCT	0.731		NaN											0	0	0	0.004672	0	3	1				
CNTNAP3	79937	broad.mit.edu	37	9	39109271	39109271	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:39109271T>C	uc004abi.2	-	15	2490	c.2251A>G	c.(2251-2253)ATA>GTA	p.I751V	CNTNAP3_uc004abj.2_Missense_Mutation_p.I750V|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.I751V	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	751	Fibrinogen C-terminal.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGGACTATTGTGTCACTA	0.433		NaN											0	0	0	0.010729	0	11	8				
PRUNE2	158471	broad.mit.edu	37	9	79441572	79441572	+	Silent	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:79441572C>G	uc010mpk.2	-	5	709	c.585G>C	c.(583-585)CTG>CTC	p.L195L	PRUNE2_uc004akn.2_Silent_p.L195L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	195					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ATTTTTCTTCCAGGATAGAAA	0.443		NaN											0	0	0	0.003163	0	16	88				
OGN	4969	broad.mit.edu	37	9	95152326	95152326	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:95152326C>G	uc004asa.2	-	5	675	c.440G>C	c.(439-441)AGA>ACA	p.R147T	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.R147T|OGN_uc011ltx.1_Missense_Mutation_p.R165T	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	147	LRR 2.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						AAAATCGAGTCTTCTTAAGTT	0.294		NaN											0	0	0	0.020292	0	13	33				
BICD2	23299	broad.mit.edu	37	9	95481333	95481333	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:95481333C>T	uc004aso.1	-	5	1651	c.1594G>A	c.(1594-1596)GAG>AAG	p.E532K	BICD2_uc004asp.1_Missense_Mutation_p.E532K	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	532	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GCCAGCTCCTCACTGAAGGTC	0.632		NaN											0	0	0	0.008361	0	28	28				
LPPR1	54886	broad.mit.edu	37	9	104048468	104048468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:104048468G>C	uc004bbb.2	+	4	734	c.335G>C	c.(334-336)GGA>GCA	p.G112A	LPPR1_uc011lvi.1_Missense_Mutation_p.G88A|LPPR1_uc004bbc.2_Missense_Mutation_p.G112A|LPPR1_uc010mtc.2_Missense_Mutation_p.G96A	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	112						integral to membrane	catalytic activity				0						ATTCTGACCGGAGAATGCTGT	0.373		NaN											0	0	0	0.020292	0	15	53				
RGS3	5998	broad.mit.edu	37	9	116346235	116346235	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:116346235C>T	uc004bhq.2	+	21	2752	c.2543C>T	c.(2542-2544)GCG>GTG	p.A848V	RGS3_uc004bhs.2_Missense_Mutation_p.A738V|RGS3_uc004bht.2_Missense_Mutation_p.A567V|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.A169V|RGS3_uc010muz.1_Missense_Mutation_p.A187V|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.A158V|RGS3_uc004bhx.2_Missense_Mutation_p.A169V|RGS3_uc004bhy.1_Missense_Mutation_p.A158V|RGS3_uc004bhz.2_Missense_Mutation_p.A190V	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	848					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GACCCACCTGCGGCCCCCAGG	0.617		NaN											0	0	0	0.006999	0	41	49				
DDX31	64794	broad.mit.edu	37	9	135523856	135523856	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr9:135523856T>A	uc004cbq.1	-	10	1290	c.1138A>T	c.(1138-1140)AGT>TGT	p.S380C	DDX31_uc010mzu.1_Missense_Mutation_p.S380C|DDX31_uc004cbr.1_Missense_Mutation_p.S380C	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	380	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CGCAGCCGACTAAAATGAATG	0.433		NaN											0	0	0	0.00623	0	37	112				
KDM6A	7403	broad.mit.edu	37	X	44870231	44870231	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:44870231G>T	uc004dge.3	+	5	785	c.410G>T	c.(409-411)GGT>GTT	p.G137V	KDM6A_uc010nhk.2_Missense_Mutation_p.G137V|KDM6A_uc011mkz.1_Missense_Mutation_p.G137V|KDM6A_uc011mla.1_Missense_Mutation_p.G137V|KDM6A_uc011mlb.1_Missense_Mutation_p.G137V|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	137	TPR 2.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TATGGTCTTGGTTTGGTCTAC	0.299		NaN	D|N|F|S		renal|oesophageal SCC|MM								1	0	5.18039e-06	0.00308	5.4173e-06	6	6		Valid		
WNK3	65267	broad.mit.edu	37	X	54265480	54265480	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:54265480G>A	uc004dtd.1	-	18	4143	c.3704C>T	c.(3703-3705)GCT>GTT	p.A1235V	WNK3_uc004dtc.1_Missense_Mutation_p.A1235V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1235					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GCTTGACACAGCAGCAGGATA	0.388		NaN											0	0	0	0.004672	0	3	17				
ALAS2	212	broad.mit.edu	37	X	55050275	55050275	+	Silent	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:55050275G>A	uc004dua.3	-	4	468	c.330C>T	c.(328-330)GTC>GTT	p.V110V	ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	110					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	TCCTTAGGCTGACTGAGACCA	0.507		NaN											0	0	0	0.004672	0	3	6				
ACRC	93953	broad.mit.edu	37	X	70811992	70811992	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:70811992C>G	uc004eae.2	+	3	581	c.80C>G	c.(79-81)TCA>TGA	p.S27*	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	27						nucleus				ovary(3)	3	Renal(35;0.156)					AATGTTCAGTCAAGCAGTGAT	0.383		NaN											0	0	0	0.00499	0	15	16				
FGF13	2258	broad.mit.edu	37	X	137790983	137790983	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:137790983A>T	uc004fam.2	-	2	957	c.295T>A	c.(295-297)TAC>AAC	p.Y99N	FGF13_uc004fan.2_Missense_Mutation_p.Y46N|FGF13_uc011mwi.1_Missense_Mutation_p.Y80N|FGF13_uc004faq.2_Missense_Mutation_p.Y109N|FGF13_uc004far.2_Missense_Mutation_p.Y80N|FGF13_uc011mwj.1_Missense_Mutation_p.Y109N|FGF13_uc011mwk.1_Missense_Mutation_p.Y53N	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	99					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CACTTACTGTAAGTGCTGTCC	0.383		NaN											0	0	0	0.012213	0	31	50				
CDR1	1038	broad.mit.edu	37	X	139866323	139866323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:139866323G>A	uc004fbg.1	-	1	401	c.209C>T	c.(208-210)TCG>TTG	p.S70L	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	70	23 X 6 AA approximate repeats.|12.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CATAGCTTCCGAAAAATCCAG	0.453		NaN											0	0	0	0.015359	0	34	40				
PANK4	55229	broad.mit.edu	37	1	2453183	2453183	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:2453183C>G	uc001ajm.1	-	2	190	c.181G>C	c.(181-183)GTG>CTG	p.V61L	PANK4_uc010nza.1_Missense_Mutation_p.V61L	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	61					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AAAGACCGCACCTTGGCGACT	0.607		NaN											0	0	0	0.010771	0	44	138				
ENO1	2023	broad.mit.edu	37	1	8927305	8927305	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:8927305C>T	uc001apj.1	-	6	466	c.315G>A	c.(313-315)AAG>AAA	p.K105K	ENO1_uc001api.1_Silent_p.K9K|ENO1_uc001apk.1_Silent_p.K50K|ENO1_uc001apl.1_Silent_p.K105K|ENO1_uc009vmi.1_Silent_p.K62K|ENO1_uc009vmj.1_Silent_p.K105K|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Silent_p.K105K	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	105	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCGCACCAAACTTAGCTAGAA	0.542		NaN											0	0	0	0.003755	0	35	82				
LOC440563	440563	broad.mit.edu	37	1	13183780	13183780	+	Silent	SNP	A	A	C	rs116484938	by1000genomes	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:13183780A>C	uc010obg.1	-	1	188	c.93T>G	c.(91-93)TCT>TCG	p.S31S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	31						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						CCTCCACATCAGATTTCTTGA	0.468		NaN											0	0	0	0.006214	0	6	111				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418		NaN											0	0	0	0.006214	0	8	110				
ARID1A	8289	broad.mit.edu	37	1	27094374	27094374	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:27094374C>T	uc001bmv.1	+	11	3455	c.3082C>T	c.(3082-3084)CTG>TTG	p.L1028L	ARID1A_uc001bmt.1_Silent_p.L1028L|ARID1A_uc001bmu.1_Silent_p.L1028L|ARID1A_uc001bmw.1_Silent_p.L645L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1028	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGACCGTTATCTGGCCTTCAC	0.502		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	51	100				
CDCA8	55143	broad.mit.edu	37	1	38161616	38161616	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:38161616G>A	uc001cbr.2	+	4	365	c.258G>A	c.(256-258)GCG>GCA	p.A86A	CDCA8_uc001cbs.2_Silent_p.A86A|CDCA8_uc010oih.1_Silent_p.A19A	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	86	Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAAGAGGCGGCAACAGTAA	0.408		NaN											0	0	0	0.004482	0	9	42				
IPO13	9670	broad.mit.edu	37	1	44423127	44423127	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423127C>T	uc001ckx.2	+	7	2241	c.1446C>T	c.(1444-1446)GTC>GTT	p.V482V		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	482	HEAT 8.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCATTGACGTCAACTATTCTG	0.562		NaN											0	0	0	0.012319	0	11	105				
IPO13	9670	broad.mit.edu	37	1	44423149	44423150	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423149_44423150GG>TT	uc001ckx.2	+	7	2263_2264	c.1468_1469GG>TT	c.(1468-1470)GGG>TTG	p.G490L		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	490	HEAT 8.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGGTGCCTGGGCTCATTGGC	0.559		NaN											0	0	0	0.004672	0	12	116				
ATG4C	84938	broad.mit.edu	37	1	63284996	63284996	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:63284996C>G	uc001dat.2	+	5	877	c.715C>G	c.(715-717)CAC>GAC	p.H239D	ATG4C_uc001dau.2_Missense_Mutation_p.H239D	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	239					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						TGTGGTTGCTCACATTTTAAG	0.363		NaN											0	0	0	0.00632	0	27	63				
LEPR	3953	broad.mit.edu	37	1	66074462	66074462	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:66074462A>G	uc001dci.2	+	12	1832	c.1630A>G	c.(1630-1632)AAA>GAA	p.K544E	LEPR_uc001dcg.2_Missense_Mutation_p.K544E|LEPR_uc001dch.2_Missense_Mutation_p.K544E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.K544E|LEPR_uc001dck.2_Missense_Mutation_p.K544E	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	544	Extracellular (Potential).|Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCCAGTGTGAAAGCAGAAAT	0.313		NaN											0	0	0	0.00308	0	8	50				
DDAH1	23576	broad.mit.edu	37	1	85824470	85824470	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:85824470C>G	uc001dlb.2	-	2	525	c.364G>C	c.(364-366)GAA>CAA	p.E122Q	DDAH1_uc001dlc.2_Missense_Mutation_p.E19Q|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.E22Q|DDAH1_uc009wco.2_Missense_Mutation_p.E19Q	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	122					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GTTGCATTTTCATCTTTCATC	0.284		NaN											0	0	0	0.00632	0	24	74				
HS2ST1	9653	broad.mit.edu	37	1	87563566	87563566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:87563566G>C	uc010osk.1	+	5	1019	c.634G>C	c.(634-636)GAG>CAG	p.E212Q	HS2ST1_uc001dmc.3_Missense_Mutation_p.E212Q|LOC339524_uc001dme.1_Missense_Mutation_p.E173Q	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	212	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTGTGCTCCAGAGAAGCTCTG	0.458		NaN											0	0	0	0.010818	0	30	64				
TGFBR3	7049	broad.mit.edu	37	1	92181853	92181853	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92181853G>A	uc001doh.2	-	12	2272	c.1806C>T	c.(1804-1806)CTC>CTT	p.L602L	TGFBR3_uc009wde.2_Silent_p.L379L|TGFBR3_uc010osy.1_Silent_p.L560L|TGFBR3_uc001doi.2_Silent_p.L601L|TGFBR3_uc001doj.2_Silent_p.L601L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	602	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCACCAAAAAGAGGTCAGTGT	0.502		NaN											0	0	0	0.003163	0	15	40				
C1orf146	388649	broad.mit.edu	37	1	92710355	92710355	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92710355C>G	uc001doq.2	+	5	421	c.349C>G	c.(349-351)CGA>GGA	p.R117G	C1orf146_uc010ote.1_Missense_Mutation_p.R58G	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	hypothetical protein LOC388649	117										ovary(1)	1		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTGTAACTTACGAATACTTCC	0.353		NaN											0	0	0	0.004878	0	33	52				
PTBP2	58155	broad.mit.edu	37	1	97236333	97236333	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:97236333C>G	uc001drq.2	+	5	604	c.358C>G	c.(358-360)CAT>GAT	p.H120D	PTBP2_uc001drn.2_Missense_Mutation_p.H120D|PTBP2_uc001dro.2_Missense_Mutation_p.H120D|PTBP2_uc010otz.1_Missense_Mutation_p.H131D|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.H68D|PTBP2_uc001drr.2_Missense_Mutation_p.H120D|PTBP2_uc010oua.1_Missense_Mutation_p.H128D|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Missense_Mutation_p.H120D	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	120	RRM 1.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTGACACCTCATCTTCGTAA	0.323		NaN											0	0	0	0.013726	0	34	71				
HIPK1	204851	broad.mit.edu	37	1	114483496	114483496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:114483496C>T	uc001eem.2	+	2	652	c.491C>T	c.(490-492)ACA>ATA	p.T164I	HIPK1_uc001eel.2_Missense_Mutation_p.T164I|HIPK1_uc001een.2_Missense_Mutation_p.T164I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTGACCACAAAGAGTAGC	0.517		NaN											0	0	0	0.007835	0	40	62				
VANGL1	81839	broad.mit.edu	37	1	116206768	116206768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:116206768C>T	uc001efv.1	+	4	962	c.691C>T	c.(691-693)CTC>TTC	p.L231F	VANGL1_uc009wgy.1_Missense_Mutation_p.L229F|VANGL1_uc001efw.1_Missense_Mutation_p.L231F	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	231	Helical; Name=4; (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGATGCCCTCCTCTTCATCCA	0.572		NaN											0	0	0	0.014323	0	22	86				
ADAMTSL4	54507	broad.mit.edu	37	1	150526564	150526564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:150526564G>C	uc001eux.2	+	6	1333	c.1097G>C	c.(1096-1098)GGG>GCG	p.G366A	ADAMTSL4_uc001euw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.G366A	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	366					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGATGTTCTGGGGAGAGTGAA	0.652		NaN											0	0	0	0.013537	0	12	46				
MEX3A	92312	broad.mit.edu	37	1	156051352	156051352	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:156051352C>G	uc001fnd.3	-	1	438	c.438G>C	c.(436-438)GAG>GAC	p.E146D	LMNA_uc001fnf.1_5'Flank	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	146	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCCCACGATCTCGGCCACGT	0.637		NaN											0	0	0	0.009096	0	4	9				
OR10J3	441911	broad.mit.edu	37	1	159283465	159283465	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:159283465A>G	uc010piu.1	-	1	985	c.985T>C	c.(985-987)TAC>CAC	p.Y329H		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	329	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					AAAAATTAGTACATATTTATA	0.393		NaN											0	0	0	0.013726	0	32	66				
POU2F1	5451	broad.mit.edu	37	1	167339439	167339439	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167339439T>G	uc001gec.2	+	5	363	c.201T>G	c.(199-201)TCT>TCG	p.S67S	POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.S65S|POU2F1_uc001gee.2_Silent_p.S67S|POU2F1_uc010plh.1_Silent_p.S67S|POU2F1_uc001gef.2_Silent_p.S79S|POU2F1_uc001geg.2_5'Flank	NM_002697	NP_002688	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	67					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5						CTGCTCAGTCTTTAAATGTAC	0.358		NaN											0	0	0	0.008361	0	28	134				
DCAF6	55827	broad.mit.edu	37	1	167921068	167921068	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167921068T>G	uc001gew.2	+	2	370	c.128T>G	c.(127-129)CTT>CGT	p.L43R	DCAF6_uc001gev.2_Missense_Mutation_p.L43R|DCAF6_uc001gex.2_Missense_Mutation_p.L43R|DCAF6_uc010plk.1_Missense_Mutation_p.L43R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	43					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGATTAAAACTTGAAGCAACC	0.279		NaN											0	0	0	0.01441	0	55	32				
SELE	6401	broad.mit.edu	37	1	169696572	169696572	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:169696572A>C	uc001ggm.3	-	10	1720	c.1563T>G	c.(1561-1563)CCT>CCG	p.P521P	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	521	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					TCCATCCTTCAGGACAGGCGA	0.542		NaN											0	0	0	0.01441	0	55	56				
ABL2	27	broad.mit.edu	37	1	179077602	179077602	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:179077602G>A	uc001gmj.3	-	12	3087	c.2800C>T	c.(2800-2802)CTT>TTT	p.L934F	ABL2_uc010pnf.1_Missense_Mutation_p.L831F|ABL2_uc010png.1_Missense_Mutation_p.L810F|ABL2_uc010pnh.1_Missense_Mutation_p.L913F|ABL2_uc001gmg.3_Missense_Mutation_p.L816F|ABL2_uc001gmi.3_Missense_Mutation_p.L919F|ABL2_uc001gmh.3_Missense_Mutation_p.L898F|ABL2_uc010pne.1_Missense_Mutation_p.L795F	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	934	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTGAGATAAGGACTGGCACT	0.557		NaN	T	ETV6	AML								0	0	0	0.01441	0	66	55				
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:182812436T>G	uc001gpr.2	+	3	282	c.119T>G	c.(118-120)GTG>GGG	p.V40G	DHX9_uc001gps.2_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						AAGGTTCAGGTGGAAGGTTAT	0.333		NaN											0	0	0	0.00499	0	9	63				
GLT25D2	23127	broad.mit.edu	37	1	183908076	183908076	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:183908076C>T	uc001gqr.2	-	12	2072	c.1700G>A	c.(1699-1701)GGG>GAG	p.G567E	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.G175E|GLT25D2_uc001gqq.2_Missense_Mutation_p.G304E|GLT25D2_uc001gqs.2_Missense_Mutation_p.G447E	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	567					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						ACTCAGGTACCCCGGCTGGCC	0.562		NaN											0	0	0	0.00499	0	18	134				
HMCN1	83872	broad.mit.edu	37	1	186022986	186022986	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:186022986C>A	uc001grq.1	+	44	6959	c.6730C>A	c.(6730-6732)CGA>AGA	p.R2244R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2244	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTCCATGGGGCGAGTTAGAAT	0.428		NaN											1	0	1.15088e-07	0.004007	1.21879e-07	16	95				
KIF14	9928	broad.mit.edu	37	1	200569537	200569537	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:200569537T>A	uc010ppk.1	-	12	2686	c.2247A>T	c.(2245-2247)ACA>ACT	p.T749T	KIF14_uc010ppj.1_Silent_p.T258T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	749	Potential.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TTCTTAAGGATGTTATTTCTT	0.413		NaN											0	0	0	0.01441	0	63	293				
HEATR1	55127	broad.mit.edu	37	1	236767261	236767261	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:236767261G>T	uc001hyd.1	-	2	260	c.135C>A	c.(133-135)TTC>TTA	p.F45L	HEATR1_uc001hye.1_Missense_Mutation_p.F45L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	45					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCAATGGCGAAGGCGGTGT	0.443		NaN											1	0	7.45023e-12	0.010504	8.06516e-12	20	29				
OR2L3	391192	broad.mit.edu	37	1	248224761	248224761	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:248224761C>T	uc001idx.1	+	1	778	c.778C>T	c.(778-780)CGT>TGT	p.R260C	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACTTATCTACGTCCAAGATC	0.488		NaN											0	0	0	0.01441	0	47	118				
BICC1	80114	broad.mit.edu	37	10	60560788	60560788	+	Missense_Mutation	SNP	C	C	T	rs139193189	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:60560788C>T	uc001jki.1	+	14	1997	c.1997C>T	c.(1996-1998)ACG>ATG	p.T666M	BICC1_uc001jkj.1_Missense_Mutation_p.T307M	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	666					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTGCAAGGCACGAAAAACTCA	0.383		NaN											0	0	0	0.013537	0	13	54				
MAT1A	4143	broad.mit.edu	37	10	82036336	82036336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:82036336G>T	uc001kbw.2	-	6	819	c.564C>A	c.(562-564)TAC>TAA	p.Y188*		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	188					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCTGCATGTACTGAACTG	0.592		NaN											1	0	7.05121e-23	0.010771	7.98825e-23	45	105				
TNKS2	80351	broad.mit.edu	37	10	93582057	93582057	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:93582057C>G	uc001khp.2	+	7	1030	c.733C>G	c.(733-735)CTG>GTG	p.L245V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	245	ANK 5.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TTGTAGTGATCTGGTACCATT	0.328		NaN											0	0	0	0.006999	0	38	116				
SFRP5	6425	broad.mit.edu	37	10	99529459	99529459	+	Silent	SNP	G	G	A	rs144832598	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:99529459G>A	uc001kor.3	-	2	739	c.573C>T	c.(571-573)GAC>GAT	p.D191D		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5 precursor	191	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCATGAGGCCGTCAGCACTGT	0.602		NaN											0	0	0	0.009096	0	3	21				
SEC31B	25956	broad.mit.edu	37	10	102262099	102262099	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102262099A>G	uc001krc.1	-	11	1424	c.1322T>C	c.(1321-1323)TTG>TCG	p.L441S	SEC31B_uc010qpo.1_Missense_Mutation_p.L440S|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Missense_Mutation_p.L10S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	441					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TCCTGATCCCAAGGCCTCCTG	0.517		NaN											0	0	0	0.008361	0	32	72				
FAM178A	55719	broad.mit.edu	37	10	102676648	102676648	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102676648G>C	uc001krt.3	+	3	1048	c.506G>C	c.(505-507)CGA>CCA	p.R169P	FAM178A_uc001krr.1_Missense_Mutation_p.R169P|FAM178A_uc001krs.2_Missense_Mutation_p.R169P|FAM178A_uc001kru.1_Missense_Mutation_p.R105P	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	169											0						AAAAAACATCGATCCCCAGAG	0.383		NaN											0	0	0	0.005443	0	29	59				
SLK	9748	broad.mit.edu	37	10	105779625	105779625	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:105779625G>T	uc001kxo.1	+	16	3300	c.3266G>T	c.(3265-3267)AGT>ATT	p.S1089I	SLK_uc001kxp.1_Missense_Mutation_p.S1058I	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1089					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTTAAGAAGAGTTTGAGAATT	0.378		NaN											1	0	8.72198e-27	0.01441	1.00141e-26	43	95				
PDZD8	118987	broad.mit.edu	37	10	119043391	119043391	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:119043391G>C	uc001lde.1	-	5	3052	c.2853C>G	c.(2851-2853)GTC>GTG	p.V951V		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	951					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGTTTTAGAGACTTGACGCA	0.433		NaN											0	0	0	0.01441	0	81	218				
EBF3	253738	broad.mit.edu	37	10	131761227	131761227	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:131761227G>C	uc001lki.1	-	3	393	c.334C>G	c.(334-336)CTC>GTC	p.L112V	EBF3_uc010qur.1_3'UTR	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	112					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATAACTGGAGTTTATAGTGG	0.507		NaN											0	0	0	0.014323	0	21	67				
CTSD	1509	broad.mit.edu	37	11	1782613	1782613	+	Missense_Mutation	SNP	C	C	T	rs143517230	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:1782613C>T	uc001luc.1	-	2	287	c.154G>A	c.(154-156)GTC>ATC	p.V52I	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	52					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTTTGAGACGGGGCCTTTG	0.612		NaN											0	0	0	0.007413	0	19	23				
NUP98	4928	broad.mit.edu	37	11	3794940	3794940	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:3794940T>G	uc001lyh.2	-	6	816	c.525A>C	c.(523-525)AAA>AAC	p.K175N	NUP98_uc001lyi.2_Missense_Mutation_p.K175N|NUP98_uc001lyj.1_Missense_Mutation_p.K175N|NUP98_uc001lyk.1_Missense_Mutation_p.K175N|NUP98_uc010qxv.1_Missense_Mutation_p.K138N	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	175	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAACTCCAGCTTTGACCATAG	0.368		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.00245	0	11	23				
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:6866955C>T	uc001met.1	+	1	42	c.42C>T	c.(40-42)CTC>CTT	p.L14L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413		NaN											0	0	0	0.01441	0	95	125				
OR10V1	390201	broad.mit.edu	37	11	59480630	59480630	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:59480630C>T	uc001nof.1	-	1	689	c.689G>A	c.(688-690)CGG>CAG	p.R230Q		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCTGCTGACCGGATCCGTAA	0.502		NaN											0	0	0	0.004289	0	36	66				
GAB2	9846	broad.mit.edu	37	11	77991880	77991880	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:77991880T>C	uc001ozh.2	-	2	143	c.143A>G	c.(142-144)TAC>TGC	p.Y48C	GAB2_uc001ozg.2_Missense_Mutation_p.Y10C	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	48	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GTTCTTGTAGTATTCCAGAAC	0.507		NaN											0	0	0	0.004878	0	38	71				
GRM5	2915	broad.mit.edu	37	11	88301116	88301116	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:88301116C>T	uc001pcq.2	-	7	1935	c.1735G>A	c.(1735-1737)GAA>AAA	p.E579K	GRM5_uc009yvm.2_Missense_Mutation_p.E579K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	579	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCAATGGGTTCAGGGTCACCC	0.488		NaN											0	0	0	0.004007	0	16	25				
ATM	472	broad.mit.edu	37	11	108122624	108122624	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:108122624A>G	uc001pkb.1	+	11	2053	c.1668A>G	c.(1666-1668)AAA>AAG	p.K556K	ATM_uc009yxr.1_Silent_p.K556K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	556					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAACGGTAAAAATGGGAATAG	0.358		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.01441	0	49	65				
GRIK4	2900	broad.mit.edu	37	11	120531041	120531041	+	Missense_Mutation	SNP	C	C	T	rs138617238		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:120531041C>T	uc001pxn.2	+	3	301	c.14C>T	c.(13-15)TCG>TTG	p.S5L	GRIK4_uc009zav.1_Missense_Mutation_p.S5L|GRIK4_uc009zaw.1_Missense_Mutation_p.S5L|GRIK4_uc009zax.1_Missense_Mutation_p.S5L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	5					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCCCGCGTCTCGGCGCCTTTG	0.647		NaN									OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	10	60				
HSPA8	3312	broad.mit.edu	37	11	122928487	122928487	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:122928487G>A	uc001pyo.2	-	9	1974	c.1896C>T	c.(1894-1896)CCC>CCT	p.P632P	HSPA8_uc009zbc.2_Silent_p.P396P|HSPA8_uc001pyp.2_Silent_p.P479P|HSPA8_uc010rzu.1_Silent_p.P555P	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	632					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCACCAGAGGGAGGAGCTC	0.512		NaN											0	0	0	0.00245	0	14	78				
C11orf45	219833	broad.mit.edu	37	11	128773387	128773387	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:128773387C>A	uc001qeu.2	-	3	350	c.156G>T	c.(154-156)AGG>AGT	p.R52S	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.R52S|C11orf45_uc001qev.2_Missense_Mutation_p.R52S	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	52						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TACCCTCACTCCTGACAGAGG	0.507		NaN											1	0	0.00198382	0.001984	0.00201935	6	42				
DPPA3	359787	broad.mit.edu	37	12	7868804	7868804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:7868804G>A	uc001qtf.2	+	3	416	c.338G>A	c.(337-339)AGA>AAA	p.R113K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	113						cytoplasm|nucleus					0				Kidney(36;0.0887)		CATGAAAGAAGACCAACAAAC	0.284		NaN											0	0	0	0.001984	0	6	20				
CREBL2	1389	broad.mit.edu	37	12	12788795	12788795	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:12788795C>T	uc001rap.1	+	2	376	c.100C>T	c.(100-102)CGG>TGG	p.R34W	CREBL2_uc009zhv.1_5'Flank	NM_001310	NP_001301	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	34	Basic motif.				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGAGAGGAGCCGGCAGAGTGC	0.488		NaN											0	0	0	0.010729	0	11	14				
ARF3	377	broad.mit.edu	37	12	49334730	49334730	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49334730C>G	uc001rsr.2	-	2	401	c.148_splice	c.e2+1	p.G50_splice	ARF3_uc010smc.1_Splice_Site_p.G50_splice	NM_001659	NP_001650	P61204	ARF3_HUMAN	ADP-ribosylation factor 3						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity				0						TGTGCTCTTACCAATGGTAGG	0.587		NaN											0	0	0	0.01441	0	56	66				
LETMD1	25875	broad.mit.edu	37	12	51442969	51442969	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:51442969G>A	uc001rxm.2	+	2	330	c.274_splice	c.e2+1	p.G92_splice	LETMD1_uc010smz.1_Splice_Site_p.G92_splice|LETMD1_uc010sna.1_Splice_Site_p.E92_splice|LETMD1_uc001rxl.2_Splice_Site_p.G36_splice|LETMD1_uc009zlv.2_Splice_Site|LETMD1_uc001rxs.2_Splice_Site_p.E92_splice|LETMD1_uc009zlw.2_Splice_Site_p.G92_splice|LETMD1_uc001rxn.2_Splice_Site|LETMD1_uc001rxo.2_Splice_Site|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Splice_Site_p.G92_splice|LETMD1_uc001rxr.2_Splice_Site|LETMD1_uc001rxt.2_Splice_Site	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TTCATGAAAGGTAAAAACGAA	0.413		NaN											0	0	0	0.001168	0	5	34				
KRT7	3855	broad.mit.edu	37	12	52642496	52642496	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:52642496T>G	uc001saa.1	+	9	1489	c.1362T>G	c.(1360-1362)GCT>GCG	p.A454A	KRT86_uc010snq.1_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	454	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCTGAAGGCTTATTCCATCC	0.642		NaN											0	0	0	0.006122	0	17	31				
STAT6	6778	broad.mit.edu	37	12	57501482	57501482	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57501482C>T	uc009zpe.2	-	3	412	c.161G>A	c.(160-162)AGT>AAT	p.S54N	STAT6_uc009zpf.2_Missense_Mutation_p.S54N|STAT6_uc001sna.2_Missense_Mutation_p.S54N|STAT6_uc010srb.1_Translation_Start_Site|STAT6_uc010src.1_Intron|STAT6_uc010srd.1_Intron|STAT6_uc009zpg.2_Missense_Mutation_p.S103N	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	54					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						AAGTAGGGCACTAGCCAAGTT	0.607		NaN											0	0	0	0.001984	0	5	44				
LRP1	4035	broad.mit.edu	37	12	57556105	57556105	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57556105G>T	uc001snd.2	+	14	2674	c.2208G>T	c.(2206-2208)GTG>GTT	p.V736V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	736	LDL-receptor class B 7.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTAGATTGTGTATGAAGGTC	0.488		NaN											1	0	1.45844e-13	0.013726	1.60428e-13	33	85				
NUP107	57122	broad.mit.edu	37	12	69113358	69113358	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:69113358G>C	uc001suf.2	+	14	1290	c.1175G>C	c.(1174-1176)GGA>GCA	p.G392A	NUP107_uc001sug.2_Missense_Mutation_p.G239A|NUP107_uc010stj.1_Missense_Mutation_p.G363A	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATTTTATAGGAACAGAATTA	0.308		NaN											0	0	0	0.013537	0	12	34				
TMTC2	160335	broad.mit.edu	37	12	83324287	83324287	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:83324287T>C	uc001szt.2	+	4	1993	c.1561T>C	c.(1561-1563)TAC>CAC	p.Y521H	TMTC2_uc001szr.1_Missense_Mutation_p.Y521H|TMTC2_uc001szs.1_Missense_Mutation_p.Y521H|TMTC2_uc010suk.1_Missense_Mutation_p.Y276H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	521	TPR 2.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						AAATGCTTTGTACTACCGCAG	0.418		NaN											0	0	0	0.007413	0	17	28				
LRRIQ1	84125	broad.mit.edu	37	12	85450778	85450778	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:85450778A>T	uc001tac.2	+	8	2318	c.2207A>T	c.(2206-2208)TAT>TTT	p.Y736F	LRRIQ1_uc001tab.1_Missense_Mutation_p.Y736F|LRRIQ1_uc001taa.1_Missense_Mutation_p.Y711F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	736										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ACCCTTCTATATTCTATTGAA	0.333		NaN											0	0	0	0.01441	0	72	263				
GALNT4	8693	broad.mit.edu	37	12	89917268	89917268	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:89917268C>A	uc001tbd.2	-	1	1268	c.1059G>T	c.(1057-1059)GAG>GAT	p.E353D	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.E350D|GALNT4_uc010suo.1_Missense_Mutation_p.E45D	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	353	Catalytic subdomain B.|Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						ACGGGTGGATCTCCAATTTGC	0.522		NaN											1	0	1.73308e-25	0.012319	1.97653e-25	23	125				
ATP2B1	490	broad.mit.edu	37	12	90013790	90013790	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:90013790C>G	uc001tbh.2	-	10	1996	c.1815G>C	c.(1813-1815)GAG>GAC	p.E605D	ATP2B1_uc001tbg.2_Missense_Mutation_p.E605D|ATP2B1_uc001tbf.2_Missense_Mutation_p.E275D	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	605	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCAGAATTATCTCAGATGCAC	0.343		NaN											0	0	0	0.012213	0	32	57				
BTBD11	121551	broad.mit.edu	37	12	107713306	107713306	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:107713306G>T	uc001tmk.1	+	1	1110	c.589G>T	c.(589-591)GAC>TAC	p.D197Y	BTBD11_uc009zut.1_Missense_Mutation_p.D197Y|BTBD11_uc001tmj.2_Missense_Mutation_p.D197Y	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	197						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CGCCGGCGGCGACCGCCTGGG	0.721		NaN											1	0	0.004672	0.004672	0.00472745	3	4				
ATP2A2	488	broad.mit.edu	37	12	110783086	110783086	+	Silent	SNP	G	G	C	rs147309970		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:110783086G>C	uc001tqk.3	+	18	3203	c.2640G>C	c.(2638-2640)CCG>CCC	p.P880P	ATP2A2_uc001tql.3_Silent_p.P880P|ATP2A2_uc010sxy.1_Silent_p.P853P|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	880	Lumenal (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AGGACAACCCGGACTTTGAAG	0.448		NaN											0	0	0	0.01441	0	62	158				
ATXN2	6311	broad.mit.edu	37	12	111953957	111953957	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:111953957C>T	uc001tsj.2	-	10	2017	c.1855_splice	c.e10+1	p.G619_splice	ATXN2_uc001tsh.2_Splice_Site_p.G354_splice|ATXN2_uc001tsi.2_Splice_Site_p.G330_splice|ATXN2_uc001tsk.2_Splice_Site|ATXN2_uc001tsm.1_Splice_Site_p.G354_splice	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2						cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TGGTATTGTACCTTCTGAAGA	0.428		NaN											0	0	0	0.001984	0	6	26				
HSPB8	26353	broad.mit.edu	37	12	119617346	119617346	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:119617346G>T	uc001txb.2	+	1	752	c.229G>T	c.(229-231)GCC>TCC	p.A77S	HSPB8_uc001txc.2_Missense_Mutation_p.A77S	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	77					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACTGCCACCGCCAGGTTTGG	0.672		NaN											1	0	0.00010058	0.013537	0.000104886	13	40				
VPS37B	79720	broad.mit.edu	37	12	123355588	123355588	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123355588G>A	uc001udl.2	-	2	235	c.132C>T	c.(130-132)AAC>AAT	p.N44N		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	44					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TCATTTCTTTGTTAAGCTGAA	0.502		NaN											0	0	0	0.003163	0	15	45				
SBNO1	55206	broad.mit.edu	37	12	123815916	123815916	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123815916C>T	uc010tap.1	-	7	916	c.916G>A	c.(916-918)GAA>AAA	p.E306K	SBNO1_uc010tao.1_Missense_Mutation_p.E305K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E306K|SBNO1_uc001ueu.2_Missense_Mutation_p.E305K|SBNO1_uc001uev.2_Missense_Mutation_p.E304K|SBNO1_uc009zxy.1_Missense_Mutation_p.E271K	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	306							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGGAAAGTTTCATGTTGCTGA	0.363		NaN											0	0	0	0.010504	0	21	45				
MTMR6	9107	broad.mit.edu	37	13	25832777	25832777	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:25832777G>C	uc001uqf.3	-	7	1099	c.780C>G	c.(778-780)AAC>AAG	p.N260K	MTMR6_uc001uqe.1_Missense_Mutation_p.N260K	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	260	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TATTGGAATAGTTGTCTTCAT	0.294		NaN											0	0	0	0.004007	0	16	30				
AKAP11	11215	broad.mit.edu	37	13	42877222	42877222	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:42877222A>G	uc001uys.1	+	8	4515	c.4340A>G	c.(4339-4341)TAT>TGT	p.Y1447C		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1447				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117).	intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGGATCCATATAGAAATGAG	0.388		NaN											0	0	0	0.007835	0	39	87				
RB1	5925	broad.mit.edu	37	13	49039203	49039203	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039203A>C	uc001vcb.2	+	22	2447	c.2281A>C	c.(2281-2283)ATG>CTG	p.M761L		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	761	Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)|p.M761fs*4(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCGGTCTTCATGCAGAGACT	0.333		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.006214	0	9	50		Valid		
FARP1	10160	broad.mit.edu	37	13	99020427	99020427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:99020427C>T	uc001vnj.2	+	5	712	c.376C>T	c.(376-378)CAA>TAA	p.Q126*	FARP1_uc001vnh.2_Nonsense_Mutation_p.Q126*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	126	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACCACACACAACTCCAAGA	0.373		NaN											0	0	0	0.001168	0	6	38				
TNFSF13B	10673	broad.mit.edu	37	13	108922250	108922250	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:108922250G>C	uc001vqr.2	+	1	274	c.7G>C	c.(7-9)GAC>CAC	p.D3H	TNFSF13B_uc010agj.2_Missense_Mutation_p.D3H	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	3	Cytoplasmic (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGATATGGATGACTCCACAGA	0.443		NaN											0	0	0	0.006999	0	39	64				
RNASE7	84659	broad.mit.edu	37	14	21511342	21511342	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:21511342G>T	uc001vzk.3	+	2	448	c.191G>T	c.(190-192)CGG>CTG	p.R64L	NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7 precursor	64					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACACAAAACGGTGCAAAGAC	0.502		NaN											1	0	6.32553e-13	0.004656	6.89139e-13	25	80				
LRP10	26020	broad.mit.edu	37	14	23346425	23346425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:23346425G>T	uc001whd.2	+	7	2384	c.1831G>T	c.(1831-1833)GAG>TAG	p.E611*	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	611	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAAGATGGGGAGCAGGCACC	0.667		NaN											1	0	4.96729e-08	0.008871	5.30986e-08	21	58				
PRKD1	5587	broad.mit.edu	37	14	30098274	30098274	+	Silent	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:30098274T>C	uc001wqh.2	-	11	1879	c.1698A>G	c.(1696-1698)GTA>GTG	p.V566V		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	566					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCAATTTGATACTGAAATAC	0.299		NaN											0	0	0	0.004656	0	24	62				
COCH	1690	broad.mit.edu	37	14	31355167	31355167	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:31355167A>T	uc001wqr.2	+	11	1206	c.1126A>T	c.(1126-1128)AGC>TGC	p.S376C	COCH_uc001wqp.2_Missense_Mutation_p.S376C|COCH_uc001wqq.3_Missense_Mutation_p.S376C|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.S227C	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	376	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGATGGCTCCAGCAGTGTTGG	0.438		NaN											0	0	0	0.009535	0	32	64				
NUBPL	80224	broad.mit.edu	37	14	32031321	32031321	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:32031321C>T	uc001wrk.3	+	2	211	c.156C>T	c.(154-156)ATC>ATT	p.I52I	NUBPL_uc010amj.2_RNA	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	52					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GAACACAAATCATGTCCCGAG	0.398		NaN											0	0	0	0.001168	0	6	24				
MIA2	117153	broad.mit.edu	37	14	39716256	39716256	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:39716256C>A	uc001wux.2	+	4	672	c.478C>A	c.(478-480)CAG>AAG	p.Q160K	MIA2_uc010amy.1_Missense_Mutation_p.Q91K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	160						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAGTGATTTTCAGATAGAACC	0.323		NaN											1	0	7.92952e-12	0.003954	8.55686e-12	26	53				
ZC3H14	79882	broad.mit.edu	37	14	89069337	89069337	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:89069337C>G	uc001xww.2	+	12	1905	c.1680C>G	c.(1678-1680)CTC>CTG	p.L560L	ZC3H14_uc010twd.1_Silent_p.L560L|ZC3H14_uc010twe.1_Silent_p.L560L|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Silent_p.L105L|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	560						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						TCAGAGGTCTCCTCCACCCAC	0.512		NaN											0	0	0	0.00499	0	15	45				
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:91700960G>A	uc001xzg.2	-	2	776	c.435C>T	c.(433-435)ATC>ATT	p.I145I	GPR68_uc001xzh.2_Silent_p.I155I	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627		NaN											0	0	0	0.006214	0	9	32				
NUDT14	256281	broad.mit.edu	37	14	105642983	105642983	+	Missense_Mutation	SNP	C	C	G	rs138979378		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:105642983C>G	uc010tyn.1	-	4	430	c.316G>C	c.(316-318)GGC>CGC	p.G106R	NUDT14_uc001yqi.2_RNA	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14	106	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCACGAGGCCGGCACACAGC	0.677		NaN								HNSCC(42;0.11)			0	0	0	0.006122	0	19	60				
TJP1	7082	broad.mit.edu	37	15	30010801	30010801	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:30010801C>A	uc001zcr.2	-	21	4020	c.3545G>T	c.(3544-3546)GGG>GTG	p.G1182V	TJP1_uc010azl.2_Missense_Mutation_p.G1170V|TJP1_uc001zcq.2_Missense_Mutation_p.G1106V|TJP1_uc001zcs.2_Missense_Mutation_p.G1102V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1182					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGCTTGGGCCCTGCTGAAGG	0.557		NaN											1	0	7.87624e-14	0.00278	8.69191e-14	23	66				
SLC12A6	9990	broad.mit.edu	37	15	34628777	34628777	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:34628777G>A	uc001zhw.2	-	1	269	c.105C>T	c.(103-105)CTC>CTT	p.L35L	SLC12A6_uc001zhx.2_Silent_p.L35L|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_5'UTR|SLC12A6_uc001zib.2_Silent_p.L26L|SLC12A6_uc001zic.2_Silent_p.L35L|SLC12A6_uc010bau.2_Silent_p.L35L|SLC12A6_uc001zid.2_5'UTR	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	35	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ATCGAGAGCTGAGGTCCGGAC	0.527		NaN											0	0	0	0.006122	0	14	54				
MFAP1	4236	broad.mit.edu	37	15	44109632	44109632	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:44109632C>T	uc001zth.1	-	2	278	c.94G>A	c.(94-96)GAA>AAA	p.E32K		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	32						microfibril				skin(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTCACTTTTTCCATTGAAATC	0.433		NaN											0	0	0	0.008361	0	28	68				
SECISBP2L	9728	broad.mit.edu	37	15	49320761	49320761	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:49320761C>G	uc001zxe.1	-	5	917	c.783G>C	c.(781-783)CAG>CAC	p.Q261H	SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q261H|SECISBP2L_uc010bep.1_Missense_Mutation_p.Q23H|SECISBP2L_uc010beq.1_Intron	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	261										breast(1)|skin(1)	2						CACTAGCCCCCTGCTCACTAG	0.512		NaN											0	0	0	0.008361	0	31	87				
VPS13C	54832	broad.mit.edu	37	15	62182381	62182381	+	Silent	SNP	G	G	A	rs113570828		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:62182381G>A	uc002agz.2	-	67	9398	c.9324C>T	c.(9322-9324)TCC>TCT	p.S3108S	VPS13C_uc002aha.2_Silent_p.S3065S|VPS13C_uc002ahb.1_Silent_p.S3108S|VPS13C_uc002ahc.1_Silent_p.S3065S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3108					protein localization					ovary(2)	2						TCCCAATATAGGAAACTTCCT	0.373		NaN											0	0	0	0.008871	0	19	50				
RAB8B	51762	broad.mit.edu	37	15	63541870	63541870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63541870G>A	uc002alz.2	+	3	308	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	RAB8B_uc010uih.1_Missense_Mutation_p.R71Q	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)|kidney(1)	2						GAAAGATTCCGAACAATCACG	0.448		NaN											0	0	0	0.010729	0	9	25				
HERC1	8925	broad.mit.edu	37	15	63970149	63970149	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63970149C>G	uc002amp.2	-	37	7113	c.6965G>C	c.(6964-6966)CGG>CCG	p.R2322P		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2322					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GTGAACACACCGACCTCCAAC	0.557		NaN											0	0	0	0.010818	0	31	91				
KIAA1024	23251	broad.mit.edu	37	15	79750750	79750750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:79750750C>T	uc002bew.1	+	2	2336	c.2261C>T	c.(2260-2262)CCA>CTA	p.P754L	KIAA1024_uc010unk.1_Missense_Mutation_p.P754L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	754						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GACACAGGCCCAGGAGATAAT	0.453		NaN											0	0	0	0.006122	0	17	63				
SELS	55829	broad.mit.edu	37	15	101813019	101813019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:101813019C>T	uc010use.1	-	6	605	c.527G>A	c.(526-528)TGG>TAG	p.W176*	SELS_uc010usf.1_Nonsense_Mutation_p.W176*	NM_203472	NP_982298	Q9BQE4	SELS_HUMAN	selenoprotein S	176					anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding				0	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGGTCTCCAGGAGCAAGC	0.478		NaN											0	0	0	0.000602	0	5	13				
CACNA1H	8912	broad.mit.edu	37	16	1248648	1248648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1248648C>T	uc002cks.2	+	6	925	c.677C>T	c.(676-678)ACG>ATG	p.T226M	CACNA1H_uc002ckt.2_Missense_Mutation_p.T226M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	226	Cytoplasmic (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ctgctggatacgctgcccatg	0.478		NaN											0	0	0	0.009718	0	40	70				
MRPS34	65993	broad.mit.edu	37	16	1822451	1822451	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1822451G>C	uc002cmo.2	-	3	448	c.428C>G	c.(427-429)CCC>CGC	p.P143R	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_Missense_Mutation_p.P9R|MRPS34_uc002cmp.1_Missense_Mutation_p.P150R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	143						mitochondrion|ribosome	protein binding			skin(2)	2						CTCGTGCTTGGGCACCAGCCG	0.627		NaN											0	0	0	0.004289	0	33	114				
ZSCAN10	84891	broad.mit.edu	37	16	3139752	3139752	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3139752C>G	uc002ctv.1	-	5	1606	c.1518G>C	c.(1516-1518)CAG>CAC	p.Q506H	ZSCAN10_uc002cty.1_Missense_Mutation_p.Q167H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.Q424H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.Q434H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	506	C2H2-type 7.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCTGCGAGCTCTGCGTGAAGC	0.716		NaN											0	0	0	0.001984	0	7	4				
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3788651C>G	uc002cvv.2	-	26	4507	c.4303G>C	c.(4303-4305)GAT>CAT	p.D1435H	CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1435	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.D1435G(1)|p.D1435E(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.010729	0	12	19		Valid		
NMRAL1	57407	broad.mit.edu	37	16	4511813	4511813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:4511813C>A	uc002cwm.2	-	6	1024	c.868G>T	c.(868-870)GAA>TAA	p.E290*	NMRAL1_uc002cwn.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwo.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwp.2_Nonsense_Mutation_p.E326*	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	290						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						TTGTGCTGTTCCAGCCACTGG	0.622		NaN											1	0	5.20006e-24	0.011902	5.91074e-24	46	81				
SEZ6L2	26470	broad.mit.edu	37	16	29908193	29908193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:29908193G>A	uc002duq.3	-	3	701	c.461C>T	c.(460-462)ACG>ATG	p.T154M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T154M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T154M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T110M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	154	Thr-rich.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GATGGTGGTCGTCGTCTCCTC	0.672		NaN											0	0	0	0.005443	0	21	43				
VPS35	55737	broad.mit.edu	37	16	46705699	46705699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:46705699G>A	uc002eef.3	-	12	1541	c.1442C>T	c.(1441-1443)CCA>CTA	p.P481L	VPS35_uc002eed.2_Missense_Mutation_p.P302L|VPS35_uc002eee.2_Missense_Mutation_p.P442L	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	481					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAATCTTCTGGATCAGGGTC	0.483		NaN											0	0	0	0.003163	0	16	33				
ABCC11	85320	broad.mit.edu	37	16	48244929	48244929	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:48244929G>A	uc002eff.1	-	10	1888	c.1538C>T	c.(1537-1539)GCC>GTC	p.A513V	ABCC11_uc002efg.1_Missense_Mutation_p.A513V|ABCC11_uc002efh.1_Missense_Mutation_p.A513V|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	513	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGGCCCGAGGGCATCTCTAGG	0.607		NaN							Cerumen_Type				0	0	0	0.007413	0	20	54				
SLC12A3	6559	broad.mit.edu	37	16	56921870	56921870	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:56921870C>G	uc010ccm.2	+	18	2241	c.2212C>G	c.(2212-2214)CTG>GTG	p.L738V	SLC12A3_uc002ekd.3_Missense_Mutation_p.L738V|SLC12A3_uc010ccn.2_Missense_Mutation_p.L737V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	738	Cytoplasmic (Potential).		L -> R (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCAACATTCTGGTGGTTGG	0.602		NaN											0	0	0	0.012319	0	20	44				
CDH16	1014	broad.mit.edu	37	16	66944399	66944399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:66944399G>C	uc002eql.2	-	15	2004	c.1931C>G	c.(1930-1932)CCG>CGG	p.P644R	CDH16_uc010cdy.2_Intron|CDH16_uc002eqm.2_Missense_Mutation_p.P547R	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	644	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTCAGTCTCGGCTCATCTGC	0.652		NaN											0	0	0	0.005443	0	26	48				
FBXL8	55336	broad.mit.edu	37	16	67197579	67197579	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:67197579C>T	uc002erj.1	+	3	1101	c.981C>T	c.(979-981)TGC>TGT	p.C327C	FBXL8_uc002erk.1_Silent_p.C327C|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	327							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGGCGCGCTGCGCGGCCCTGC	0.716		NaN											0	0	0	0.006214	0	10	14				
NFAT5	10725	broad.mit.edu	37	16	69726188	69726188	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:69726188A>C	uc002exm.1	+	12	3614	c.2406A>C	c.(2404-2406)TTA>TTC	p.L802F	NFAT5_uc002exi.2_Missense_Mutation_p.L726F|NFAT5_uc002exj.1_Missense_Mutation_p.L726F|NFAT5_uc002exk.1_Missense_Mutation_p.L726F|NFAT5_uc002exl.1_Missense_Mutation_p.L820F|NFAT5_uc002exn.1_Missense_Mutation_p.L819F|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	802					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AACAAGTTTTAGAGGCACAGC	0.438		NaN											0	0	0	0.007291	0	29	119				
ZNF276	92822	broad.mit.edu	37	16	89789221	89789221	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:89789221G>C	uc002fos.3	+	2	585	c.488G>C	c.(487-489)GGT>GCT	p.G163A	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88A|ZNF276_uc002foq.3_Missense_Mutation_p.G88A|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCCCCGGCTGGTCGCCGGAAG	0.592		NaN											0	0	0	0.004007	0	17	59				
OR3A1	4994	broad.mit.edu	37	17	3194930	3194930	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3194930C>G	uc002fvh.1	-	1	947	c.947G>C	c.(946-948)TGA>TCA	p.*316S		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GAGACCTCCTCAAGCCAGTGA	0.473		NaN											0	0	0	0.001855	0	13	56				
ZZEF1	23140	broad.mit.edu	37	17	3957435	3957435	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3957435C>T	uc002fxe.2	-	34	5414	c.5350G>A	c.(5350-5352)GAT>AAT	p.D1784N	ZZEF1_uc002fxh.2_Missense_Mutation_p.D98N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D19N|ZZEF1_uc002fxj.1_Missense_Mutation_p.D397N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1784	ZZ-type 1.						calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCACACCCATCACAAGAGATG	0.438		NaN											0	0	0	0.003163	0	16	77				
CHRNE	1145	broad.mit.edu	37	17	4805975	4805975	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:4805975C>T	uc002fzk.1	-	2	141	c.130G>A	c.(130-132)GAG>AAG	p.E44K	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	44	Extracellular (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						TCCTCAGGCTCCCGCACTGGC	0.542		NaN											0	0	0	0.01441	0	60	109				
TP53	7157	broad.mit.edu	37	17	7577079	7577079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:7577079C>A	uc002gim.2	-	8	1053	c.859G>T	c.(859-861)GAG>TAG	p.E287*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E287*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E155*|TP53_uc010cng.1_Nonsense_Mutation_p.E155*|TP53_uc002gii.1_Nonsense_Mutation_p.E155*|TP53_uc010cnh.1_Nonsense_Mutation_p.E287*|TP53_uc010cni.1_Nonsense_Mutation_p.E287*|TP53_uc002gij.2_Nonsense_Mutation_p.E287*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	287	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N288fs*13(17)|p.E287*(8)|p.0?(7)|p.E287K(6)|p.E287E(5)|p.E287G(2)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287V(1)|p.E287fs*17(1)|p.E287A(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGAGATTCTCTTCCTCTGTG	0.567		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	3.62473e-10	0.012319	3.89916e-10	22	21		Valid		
NCOR1	9611	broad.mit.edu	37	17	15973488	15973488	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:15973488T>A	uc002gpo.2	-	31	4744	c.4504A>T	c.(4504-4506)ACT>TCT	p.T1502S	NCOR1_uc002gpn.2_Missense_Mutation_p.T1518S|NCOR1_uc002gpp.1_Missense_Mutation_p.T1409S|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.T86S|NCOR1_uc010coy.2_Missense_Mutation_p.T410S|NCOR1_uc010vwc.1_Missense_Mutation_p.T313S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1502	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCATCAGAAGTTCTGTTCATC	0.383		NaN											0	0	0	0.00623	0	36	151		Valid		
TOP3A	7156	broad.mit.edu	37	17	18181485	18181485	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18181485G>A	uc002gsx.1	-	18	2560	c.2331C>T	c.(2329-2331)AAC>AAT	p.N777N	TOP3A_uc010cpz.1_Silent_p.N229N|TOP3A_uc010vxr.1_Silent_p.N307N|TOP3A_uc002gsw.1_Silent_p.N229N|TOP3A_uc010vxs.1_Silent_p.N675N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	777					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GGTGCTGGCTGTTGTCCATCC	0.632		NaN											0	0	0	0.012319	0	20	92				
TRIM16L	147166	broad.mit.edu	37	17	18638504	18638504	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18638504T>A	uc002gug.1	+	10	1465	c.778T>A	c.(778-780)TTC>ATC	p.F260I	TRIM16L_uc010vyf.1_Missense_Mutation_p.F314I|TRIM16L_uc002guh.1_Missense_Mutation_p.F260I|TRIM16L_uc010cqg.1_Missense_Mutation_p.F362I|TRIM16L_uc002gui.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyg.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	260	B30.2/SPRY.					cytoplasm					0						CGGGAAGGAGTTCACGGCCTG	0.557		NaN											0	0	0	0.00499	0	13	82				
FBXL20	84961	broad.mit.edu	37	17	37427047	37427047	+	Splice_Site	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:37427047A>T	uc010wed.1	-	11	1109	c.888_splice	c.e11+1	p.R296_splice	FBXL20_uc002hrt.2_Splice_Site_p.R296_splice|FBXL20_uc010cvu.2_Splice_Site_p.R264_splice	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20							cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			GAAAATACTTACCCTGGCTAG	0.358		NaN											0	0	0	0.008871	0	17	17				
KIAA1267	284058	broad.mit.edu	37	17	44248600	44248600	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:44248600G>C	uc002ikb.2	-	1	995	c.910C>G	c.(910-912)CGC>GGC	p.R304G	KIAA1267_uc002ikc.2_Missense_Mutation_p.R304G|KIAA1267_uc002ikd.2_Missense_Mutation_p.R304G|KIAA1267_uc010dav.2_Missense_Mutation_p.R304G	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	304	Potential.					MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				ACCTGTAAGCGCTTTTGTAAT	0.468		NaN											0	0	0	0.014323	0	23	143				
TLK2	11011	broad.mit.edu	37	17	60654136	60654136	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:60654136G>C	uc010ddp.2	+	14	1522	c.1254G>C	c.(1252-1254)AAG>AAC	p.K418N	TLK2_uc002izx.3_Missense_Mutation_p.K244N|TLK2_uc002izz.3_Missense_Mutation_p.K396N|TLK2_uc002jaa.3_Missense_Mutation_p.K364N|TLK2_uc010wpd.1_Missense_Mutation_p.K364N	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	418	Potential.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						ATCTTAAAAAGGTAAGTATAA	0.343		NaN											0	0	0	0.01441	0	59	40				
PRKCA	5578	broad.mit.edu	37	17	64299005	64299005	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:64299005G>A	uc002jfp.1	+	1	80	c.36G>A	c.(34-36)GCG>GCA	p.A12A	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	12					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACTCCACGGCGTCTCAGGACG	0.602		NaN											0	0	0	0.006122	0	19	27				
CASKIN2	57513	broad.mit.edu	37	17	73498037	73498037	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:73498037C>T	uc002joc.2	-	18	3668	c.3118G>A	c.(3118-3120)GAG>AAG	p.E1040K	CASKIN2_uc010wsc.1_Missense_Mutation_p.E958K	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	1040	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTGGGCTCGGGCTGGGGA	0.697		NaN											0	0	0	0.007291	0	29	57				
ARHGAP28	79822	broad.mit.edu	37	18	6890047	6890047	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:6890047T>A	uc010wzi.1	+	12	1404	c.1166T>A	c.(1165-1167)ATC>AAC	p.I389N	ARHGAP28_uc002knc.2_Missense_Mutation_p.I514N|ARHGAP28_uc002knd.2_Missense_Mutation_p.I407N|ARHGAP28_uc002kne.2_Missense_Mutation_p.I407N|ARHGAP28_uc002knf.2_Missense_Mutation_p.I398N			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	389					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				GCCCACATCATCCGCCTAATG	0.443		NaN											0	0	0	0.01441	0	47	98				
ANKRD29	147463	broad.mit.edu	37	18	21226188	21226188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:21226188C>T	uc002kun.2	-	3	353	c.196G>A	c.(196-198)GTT>ATT	p.V66I	ANKRD29_uc002kuo.2_Missense_Mutation_p.V66I	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	66	ANK 2.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTGCAGAACCAGTTCCCTC	0.498		NaN											0	0	0	0.004007	0	15	43				
KLHL14	57565	broad.mit.edu	37	18	30350174	30350174	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:30350174C>T	uc002kxm.1	-	2	769	c.381G>A	c.(379-381)CTG>CTA	p.L127L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	127	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						AGCAGCCCTGCAGCACCAGGT	0.587		NaN											0	0	0	0.011902	0	38	118				
NEDD4L	23327	broad.mit.edu	37	18	56033354	56033354	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:56033354G>A	uc002lgy.2	+	21	2231	c.1957G>A	c.(1957-1959)GAA>AAA	p.E653K	NEDD4L_uc002lgz.2_Missense_Mutation_p.E589K|NEDD4L_uc002lgx.2_Missense_Mutation_p.E633K|NEDD4L_uc010xee.1_Missense_Mutation_p.E532K|NEDD4L_uc002lhc.2_Missense_Mutation_p.E645K|NEDD4L_uc002lhd.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhb.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhe.2_Missense_Mutation_p.E625K|NEDD4L_uc002lhf.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhg.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhh.2_Missense_Mutation_p.E428K|NEDD4L_uc010dpn.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	653	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						GATTGAGTTTGAATCAGAGAA	0.418		NaN											0	0	0	0.013537	0	12	13				
RTTN	25914	broad.mit.edu	37	18	67860668	67860668	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:67860668G>A	uc002lkp.2	-	8	931	c.863C>T	c.(862-864)TCT>TTT	p.S288F	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S288F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	288							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				ATAAGACAAAGAAGAATTTTG	0.418		NaN											0	0	0	0.003163	0	14	42				
C19orf25	148223	broad.mit.edu	37	19	1475148	1475148	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:1475148G>T	uc002lsy.3	-	2	455	c.240C>A	c.(238-240)GGC>GGA	p.G80G	C19orf25_uc010xgn.1_Intron|C19orf25_uc010dsk.2_Silent_p.G80G|C19orf25_uc010xgo.1_Silent_p.G120G|C19orf25_uc002lsx.1_3'UTR	NM_152482	NP_689695	Q9UFG5	CS025_HUMAN	hypothetical protein LOC148223	80							protein binding				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCACGTTGCCCGCCTGCT	0.672		NaN											1	0	0.00198382	0.001984	0.00201935	7	4				
PTPRS	5802	broad.mit.edu	37	19	5258028	5258028	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5258028C>T	uc002mbv.2	-	8	940	c.706G>A	c.(706-708)GAG>AAG	p.E236K	PTPRS_uc002mbu.1_Missense_Mutation_p.V227I|PTPRS_uc010xin.1_Missense_Mutation_p.V227I|PTPRS_uc002mbw.2_Missense_Mutation_p.V227I|PTPRS_uc002mbx.2_Missense_Mutation_p.E227K|PTPRS_uc002mby.2_Missense_Mutation_p.V227I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	236	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGTTCCCTACCTCGCACGTAG	0.662		NaN											0	0	0	0.010818	0	32	59				
RPL36	25873	broad.mit.edu	37	19	5691448	5691448	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5691448A>C	uc002mcv.2	+	3	281	c.212A>C	c.(211-213)AAA>ACA	p.K71T	RPL36_uc002mcw.2_Missense_Mutation_p.K71T	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN	ribosomal protein L36	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome				0						CGGGCCCTCAAATTTATCAAG	0.647		NaN									OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	26	67				
NRTN	4902	broad.mit.edu	37	19	5824219	5824219	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5824219A>G	uc002mde.2	+	1	402	c.43A>G	c.(43-45)AGC>GGC	p.S15G		NM_004558	NP_004549	Q99748	NRTN_HUMAN	neurturin preproprotein	15					axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity				0						AGTGCTCTGCAGCTCCGTGCT	0.697		NaN											0	0	0	0.001168	0	6	17				
MCOLN1	57192	broad.mit.edu	37	19	7592790	7592790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:7592790A>G	uc002mgo.2	+	6	846	c.721A>G	c.(721-723)AAC>GAC	p.N241D	MCOLN1_uc002mgp.2_Missense_Mutation_p.N206D	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	241					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						GAAGACCATTAACCTCCAGAG	0.612		NaN											0	0	0	0.003163	0	14	48				
MUC16	94025	broad.mit.edu	37	19	9086960	9086960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:9086960C>G	uc002mkp.2	-	1	5059	c.4855G>C	c.(4855-4857)GAG>CAG	p.E1619Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1619	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGCCAGTCTCAATCTCTCTG	0.512		NaN											0	0	0	0.01441	0	57	117				
STX10	8677	broad.mit.edu	37	19	13255242	13255242	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:13255242G>C	uc010xnb.1	-	8	732	c.732C>G	c.(730-732)ATC>ATG	p.I244M	STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.I145M	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	244	Helical; Anchor for type IV membrane protein; (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAATAGTAAGATGAGAACGA	0.627		NaN											0	0	0	0.001984	0	7	10				
C19orf57	79173	broad.mit.edu	37	19	14000223	14000223	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:14000223C>G	uc002mxl.1	-	6	1505	c.1446G>C	c.(1444-1446)GTG>GTC	p.V482V	C19orf57_uc002mxk.1_Silent_p.V364V|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	482					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGTGTTCCAGCACAACAGAGG	0.622		NaN											0	0	0	0.003954	0	25	71				
DPY19L3	147991	broad.mit.edu	37	19	32930033	32930033	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:32930033A>G	uc002ntg.2	+	7	788	c.612A>G	c.(610-612)AGA>AGG	p.R204R	DPY19L3_uc002nth.1_Silent_p.R204R|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	204						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					ATACCACAAGAGTTGAGTTTA	0.393		NaN											0	0	0	0.01441	0	55	91				
CHST8	64377	broad.mit.edu	37	19	34180217	34180217	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:34180217T>A	uc002nus.3	+	3	555	c.50T>A	c.(49-51)ATC>AAC	p.I17N	CHST8_uc002nut.3_Missense_Mutation_p.I17N|CHST8_uc002nuu.2_Missense_Mutation_p.I17N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	17	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TTCTCTTCCATCCTGCTGTTC	0.647		NaN											0	0	0	0.003954	0	27	134				
ZNF529	57711	broad.mit.edu	37	19	37045699	37045699	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:37045699C>A	uc002oeh.3	-	4	311	c.109_splice	c.e4-1	p.E37_splice	ZNF529_uc010xth.1_Splice_Site_p.E37_splice|ZNF529_uc010xti.1_Splice_Site_p.E19_splice|ZNF529_uc002oeg.3_Splice_Site	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCACCAGTTCCTGAAACAACA	0.413		NaN											1	0	0.000602214	0.000602	0.000622288	4	7				
RYR1	6261	broad.mit.edu	37	19	38939069	38939070	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:38939069_38939070TC>AA	uc002oit.2	+	10	1005_1006	c.875_876TC>AA	c.(874-876)CTC>CAA	p.L292Q	RYR1_uc002oiu.2_Missense_Mutation_p.L292Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	292	MIR 4.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCTAGCGCTCACCGAGGACC	0.649		NaN											0	0	0	0.004672	0	20	271				
PAK4	10298	broad.mit.edu	37	19	39660239	39660239	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:39660239A>C	uc002okj.1	+	4	507	c.46A>C	c.(46-48)AAC>CAC	p.N16H	PAK4_uc002okl.1_Missense_Mutation_p.N16H|PAK4_uc002okn.1_Missense_Mutation_p.N16H|PAK4_uc002okm.1_Missense_Mutation_p.N16H|PAK4_uc002oko.1_Missense_Mutation_p.N16H|PAK4_uc002okp.1_Missense_Mutation_p.N16H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	16	CRIB.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCGCCGTCCAACTTCGAGCA	0.657		NaN											0	0	0	0.01441	0	52	91				
SPTBN4	57731	broad.mit.edu	37	19	41035036	41035036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41035036G>A	uc002ony.2	+	18	4032	c.3946G>A	c.(3946-3948)GAG>AAG	p.E1316K	SPTBN4_uc002onx.2_Missense_Mutation_p.E1316K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1316K|SPTBN4_uc010egx.2_Missense_Mutation_p.E59K|SPTBN4_uc010egy.1_5'Flank|SPTBN4_uc002ooa.2_5'Flank|SPTBN4_uc010egz.1_5'Flank	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1316	Spectrin 11.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACTGCCACGAGGTAGGAAC	0.597		NaN									OREG0025472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	19	72				
B3GNT8	374907	broad.mit.edu	37	19	41932181	41932181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41932181C>G	uc002oqs.2	-	3	957	c.503G>C	c.(502-504)AGA>ACA	p.R168T	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	168	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						CCACGTCTCTCTCACGGCCTG	0.627		NaN											0	0	0	0.01441	0	51	96				
MARK4	57787	broad.mit.edu	37	19	45767973	45767973	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45767973G>A	uc002pbb.1	+	5	392	c.387G>A	c.(385-387)AAG>AAA	p.K129K	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.K129K|MARK4_uc002pbc.1_5'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	129	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACTGAGAAGACGCTGTACC	0.577		NaN											0	0	0	0.01441	0	87	51				
PPP1R13L	10848	broad.mit.edu	37	19	45895489	45895489	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45895489G>A	uc002pbn.2	-	8	1541	c.1464C>T	c.(1462-1464)CTC>CTT	p.L488L	PPP1R13L_uc002pbm.2_Silent_p.L67L|PPP1R13L_uc002pbo.2_Silent_p.L488L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	488	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCGTGGGGCTGAGAGGCCTTG	0.672		NaN											0	0	0	0.007291	0	31	27				
LMTK3	114783	broad.mit.edu	37	19	49013790	49013790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49013790A>G	uc002pjk.2	-	3	223	c.223T>C	c.(223-225)TGC>CGC	p.C75R		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGCCGGAGCAGGAAATGAGG	0.622		NaN											0	0	0	0.001984	0	6	3				
ALDH16A1	126133	broad.mit.edu	37	19	49971709	49971709	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49971709C>T	uc002pnt.2	+	15	2126	c.2010C>T	c.(2008-2010)GAC>GAT	p.D670D	ALDH16A1_uc010yar.1_Silent_p.D619D|ALDH16A1_uc010yas.1_Silent_p.D505D|ALDH16A1_uc010yat.1_Silent_p.D507D	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGTGTCCGGACGAGTGGCCCC	0.701		NaN											0	0	0	0.01441	0	114	79				
CACNG8	59283	broad.mit.edu	37	19	54483176	54483176	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:54483176C>G	uc002qcs.1	+	3	526	c.420C>G	c.(418-420)CTC>CTG	p.L140L	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	141	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TGCTGCTGCTCGGGGGTGTGT	0.637		NaN											0	0	0	0.007413	0	17	7				
BRSK1	84446	broad.mit.edu	37	19	55814746	55814746	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:55814746G>A	uc002qkg.2	+	11	1373	c.1096G>A	c.(1096-1098)GAC>AAC	p.D366N	BRSK1_uc002qkf.2_Missense_Mutation_p.D382N|BRSK1_uc002qkh.2_Missense_Mutation_p.D61N	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	366					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCTGTGAGGACCAGGACCT	0.473		NaN											0	0	0	0.00278	0	23	94				
PEG3	5178	broad.mit.edu	37	19	57335915	57335915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:57335915C>T	uc002qnu.2	-	1	460	c.109G>A	c.(109-111)GAA>AAA	p.E37K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E37K|PEG3_uc002qnv.2_Missense_Mutation_p.E37K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.E37K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	37					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTGGACCTTCTCCTATGATG	0.473		NaN											0	0	0	0.01441	0	72	41				
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:20647449C>A	uc002rdv.2	+	1	615	c.223C>A	c.(223-225)CCG>ACG	p.P75T		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTCCTACCCGGACACCGA	0.647		NaN											1	0	1.37522e-17	0.007413	1.5426e-17	20	113		Valid		
COMMD1	150684	broad.mit.edu	37	2	62227996	62227996	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:62227996G>T	uc002sbp.2	+	2	352	c.341G>T	c.(340-342)CGC>CTC	p.R114L	COMMD1_uc002sbq.1_RNA	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	MURR1	114					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			ovary(1)	1	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AACCAGAGCCGCTGGAATAGC	0.502		NaN											1	0	5.8336e-16	0.003271	6.45863e-16	36	36				
AUP1	550	broad.mit.edu	37	2	74754952	74754952	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74754952T>C	uc010yrx.1	-	7	1049	c.923A>G	c.(922-924)GAA>GGA	p.E308G	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'UTR|AUP1_uc002smf.2_Missense_Mutation_p.E251G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.E160G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	317	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CTGGCCCAATTCCTTGGCCAC	0.567		NaN											0	0	0	0.007291	0	30	149				
LOXL3	84695	broad.mit.edu	37	2	74776495	74776495	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74776495C>A	uc002smp.1	-	4	764	c.692_splice	c.e4+1	p.R231_splice	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Splice_Site_p.R231_splice|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor							extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						cggccccTCACCTGTAGAAGG	0.567		NaN											1	0	0.004672	0.004672	0.00472745	3	9				
HK2	3099	broad.mit.edu	37	2	75108948	75108948	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:75108948G>T	uc002snd.2	+	11	3607	c.1681G>T	c.(1681-1683)GCC>TCC	p.A561S		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	561	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						CAAGATCTACGCCATCCCGCA	0.622		NaN											1	0	0.000673444	0.008291	0.00069379	11	11				
DUSP2	1844	broad.mit.edu	37	2	96810513	96810513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:96810513G>A	uc002svk.3	-	2	583	c.497C>T	c.(496-498)CCT>CTT	p.P166L		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	166					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				GTCGTAGACAGGAGCCCTGGA	0.672		NaN											0	0	0	0.00308	0	6	3				
ZAP70	7535	broad.mit.edu	37	2	98341692	98341692	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:98341692G>A	uc002syd.1	+	4	747	c.540G>A	c.(538-540)GGG>GGA	p.G180G	ZAP70_uc010yvf.1_Silent_p.G180G|ZAP70_uc002sye.1_Silent_p.G70G	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	180	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TTTACTCTGGGGCGCAGACCG	0.647		NaN											0	0	0	0.001168	0	6	43				
GCC2	9648	broad.mit.edu	37	2	109092306	109092306	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:109092306G>C	uc002tec.2	+	9	3214	c.3060G>C	c.(3058-3060)AAG>AAC	p.K1020N	GCC2_uc002ted.2_Missense_Mutation_p.K919N	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1020	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AAAGCTATAAGGTAAAAAATA	0.318		NaN											0	0	0	0.009535	0	32	33				
TTN	7273	broad.mit.edu	37	2	179579734	179579734	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:179579734C>T	uc010zfg.1	-	87	22671	c.22447G>A	c.(22447-22449)GTT>ATT	p.V7483I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8410							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAACCAACGCAAGTGTCG	0.478		NaN											0	0	0	0.01441	0	97	77				
CDK15	65061	broad.mit.edu	37	2	202687611	202687611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:202687611C>G	uc002uyt.2	+	5	577	c.528C>G	c.(526-528)TTC>TTG	p.F176L	CDK15_uc010ftm.2_Missense_Mutation_p.F41L|CDK15_uc002uys.2_Missense_Mutation_p.F125L|CDK15_uc010ftn.1_Missense_Mutation_p.F125L|CDK15_uc010fto.1_Missense_Mutation_p.F176L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	176	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	CACTGACATTCGTTTTTGAAT	0.343		NaN											0	0	0	0.00874	0	39	70				
ANKZF1	55139	broad.mit.edu	37	2	220098444	220098444	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220098444G>C	uc002vkg.2	+	8	1001	c.827G>C	c.(826-828)CGT>CCT	p.R276P	ANKZF1_uc010zkv.1_Missense_Mutation_p.R220P|ANKZF1_uc010zkw.1_Missense_Mutation_p.R66P|ANKZF1_uc002vkh.2_Missense_Mutation_p.R66P|ANKZF1_uc002vki.2_Missense_Mutation_p.R276P|ANKZF1_uc002vkj.1_Missense_Mutation_p.R264P	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	276						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGTTCGTGACCTGCTG	0.522		NaN											0	0	0	0.01441	0	44	58				
GMPPA	29926	broad.mit.edu	37	2	220367155	220367155	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220367155A>C	uc002vlr.2	+	6	549	c.481A>C	c.(481-483)ACA>CCA	p.T161P	GMPPA_uc002vls.2_Missense_Mutation_p.T161P|GMPPA_uc002vlt.2_Missense_Mutation_p.T161P|GMPPA_uc002vlu.2_Missense_Mutation_p.T161P|GMPPA_uc002vlv.2_Missense_Mutation_p.T161P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.T161P	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	161					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GAATCCACAGACACACGAGGT	0.582		NaN											0	0	0	0.010729	0	11	12				
DIS3L2	129563	broad.mit.edu	37	2	233075041	233075041	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233075041A>G	uc010fxz.2	+	10	1406	c.1130A>G	c.(1129-1131)GAC>GGC	p.D377G	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	377							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCTAGAAAAGACTGTATCTTC	0.428		NaN											0	0	0	0.00874	0	41	39				
CHRNG	1146	broad.mit.edu	37	2	233409180	233409180	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233409180G>T	uc002vsx.1	+	10	1160	c.1139G>T	c.(1138-1140)GGA>GTA	p.G380V	CHRNG_uc010fye.1_Missense_Mutation_p.G328V	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	380	Cytoplasmic (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GGCTCCTCGGGATGGTCGATC	0.667		NaN											1	0	2.17126e-26	0.01441	2.48456e-26	50	64				
USP40	55230	broad.mit.edu	37	2	234465604	234465604	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:234465604G>C	uc010zmu.1	-	5	561	c.443C>G	c.(442-444)TCT>TGT	p.S148C	USP40_uc010zmr.1_Missense_Mutation_p.S160C			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCAACTAAAGAAGTTTCCAA	0.428		NaN											0	0	0	0.006999	0	41	34				
KIF1A	547	broad.mit.edu	37	2	241661251	241661251	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:241661251G>A	uc002vzy.2	-	42	4559	c.4413C>T	c.(4411-4413)CAC>CAT	p.H1471H	KIF1A_uc010fzk.2_Silent_p.H1572H|KIF1A_uc002vzw.2_Silent_p.H132H|KIF1A_uc002vzx.2_Silent_p.H198H	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1471					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGACGCAGACGTGGCTGTGTG	0.652		NaN											0	0	0	0.001984	0	6	10				
ADRA1D	146	broad.mit.edu	37	20	4228599	4228599	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4228599G>A	uc002wkr.2	-	1	1061	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	336	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TTGAGCAGGCGCACGGAGAGC	0.667		NaN											0	0	0	0.000602	0	5	14				
SLC23A2	9962	broad.mit.edu	37	20	4854733	4854733	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4854733G>A	uc002wlg.1	-	11	1326	c.951C>T	c.(949-951)ATC>ATT	p.I317I	SLC23A2_uc010zqr.1_Silent_p.I202I|SLC23A2_uc002wlh.1_Silent_p.I317I|SLC23A2_uc002wli.2_Silent_p.I316I	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	317	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						GGATGGCCAGGATGATCTGGA	0.552		NaN											0	0	0	0.007291	0	29	102				
C20orf94	128710	broad.mit.edu	37	20	10541378	10541378	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:10541378G>C	uc010zre.1	+	4	328	c.148G>C	c.(148-150)GAT>CAT	p.D50H		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	50							protein binding				0						AGAAACCATTGATTCAAGAGT	0.323		NaN											0	0	0	0.013537	0	12	44				
GGT7	2686	broad.mit.edu	37	20	33460480	33460480	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:33460480C>T	uc002xay.2	-	1	182	c.139G>A	c.(139-141)GAG>AAG	p.E47K	GGT7_uc002xaz.1_Missense_Mutation_p.E47K|GGT7_uc002xba.1_Missense_Mutation_p.E47K|ACSS2_uc002xbc.2_5'Flank	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	47	Cytoplasmic (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						AAGGCGTCCTCGTCCTTGCGG	0.697		NaN											0	0	0	0.004482	0	6	20				
PREX1	57580	broad.mit.edu	37	20	47248883	47248883	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:47248883C>G	uc002xtw.1	-	35	4481	c.4458G>C	c.(4456-4458)GCG>GCC	p.A1486A	PREX1_uc002xtv.1_Silent_p.A783A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1486					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAAATCCTCCGCGGCCTGGC	0.647		NaN											0	0	0	0.01441	0	49	131				
SFRS15	57466	broad.mit.edu	37	21	33044500	33044500	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:33044500T>C	uc002ypd.2	-	20	3082	c.2656A>G	c.(2656-2658)ATG>GTG	p.M886V	SFRS15_uc002ype.2_Missense_Mutation_p.M864V|SFRS15_uc010glu.2_Missense_Mutation_p.M871V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	886						nucleus	nucleotide binding|RNA binding				0						CCTCTGTGCATCATGTGCGGT	0.647		NaN											0	0	0	0.010729	0	11	60				
PCBP3	54039	broad.mit.edu	37	21	47330884	47330884	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47330884C>T	uc002zhq.1	+	7	665	c.540C>T	c.(538-540)ATC>ATT	p.I180I	PCBP3_uc010gqb.2_Silent_p.I180I|PCBP3_uc002zhp.1_Silent_p.I180I|PCBP3_uc010gqc.1_Silent_p.I180I|PCBP3_uc002zhs.1_Silent_p.I180I|PCBP3_uc002zhr.1_Silent_p.I180I|PCBP3_uc002zht.1_Silent_p.I148I	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	180	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGGTGACCATCTCGGGGACCC	0.642		NaN											0	0	0	0.010504	0	19	23				
C21orf58	54058	broad.mit.edu	37	21	47722421	47722421	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47722421T>G	uc002zjf.2	-	8	1925	c.791A>C	c.(790-792)AAG>ACG	p.K264T	C21orf58_uc002ziz.2_Missense_Mutation_p.K181T|C21orf58_uc002zja.2_Missense_Mutation_p.K158T|C21orf58_uc011afw.1_Missense_Mutation_p.K181T|C21orf58_uc002zjc.2_Missense_Mutation_p.K158T|C21orf58_uc011afx.1_Missense_Mutation_p.K158T|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	264										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		GGGCAGGGCCTTGAGCATCCA	0.582		NaN											0	0	0	0.006214	0	9	11				
COMT	1312	broad.mit.edu	37	22	19951251	19951251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:19951251G>C	uc002zqu.2	+	4	701	c.452G>C	c.(451-453)CGG>CCG	p.R151P	COMT_uc002zqt.2_Missense_Mutation_p.R151P|COMT_uc002zqv.2_Missense_Mutation_p.R151P|COMT_uc002zqw.2_Missense_Mutation_p.R151P|COMT_uc011ahd.1_Missense_Mutation_p.R151P|COMT_uc002zqx.2_Missense_Mutation_p.R151P	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	151					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ATCACCCAGCGGATGGTGGAT	0.627		NaN											0	0	0	0.00278	0	22	19				
THOC5	8563	broad.mit.edu	37	22	29925227	29925227	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:29925227A>T	uc003afr.2	-	10	1184	c.849T>A	c.(847-849)GAT>GAA	p.D283E	THOC5_uc003afq.2_5'Flank|THOC5_uc003afs.2_Missense_Mutation_p.D283E|THOC5_uc003aft.2_Missense_Mutation_p.D283E|THOC5_uc003afu.2_Missense_Mutation_p.D283E|THOC5_uc010gvo.2_Missense_Mutation_p.N27K|THOC5_uc003afv.1_Missense_Mutation_p.D294E	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	283					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						ATAACGTCTTATCTGGGGGGC	0.532		NaN											0	0	0	0.01441	0	55	90				
GALNTL2	117248	broad.mit.edu	37	3	16217067	16217067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:16217067G>A	uc003car.3	+	1	884	c.409G>A	c.(409-411)GCT>ACT	p.A137T	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	137	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGACTGGGGGGCTGATGAGGA	0.637		NaN											0	0	0	0.00245	0	14	55				
WDR6	11180	broad.mit.edu	37	3	49051011	49051011	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:49051011T>A	uc003cvj.2	+	2	2272	c.2134T>A	c.(2134-2136)TAC>AAC	p.Y712N	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.Y160N|WDR6_uc010hkn.2_Missense_Mutation_p.Y656N|WDR6_uc011bbz.1_Missense_Mutation_p.Y631N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	682	WD 11.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTCATGCTGTACAGGGCTCT	0.587		NaN									OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	18	36				
ZNF654	55279	broad.mit.edu	37	3	88189288	88189288	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:88189288C>G	uc003dqv.2	+	1	1027	c.828C>G	c.(826-828)AAC>AAG	p.N276K	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	276	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAATTGCAACGAGTCGTTTA	0.373		NaN											0	0	0	0.013114	0	46	71				
TRAT1	50852	broad.mit.edu	37	3	108572572	108572572	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:108572572G>T	uc003dxi.1	+	6	553	c.409G>T	c.(409-411)GAT>TAT	p.D137Y	TRAT1_uc010hpx.1_Missense_Mutation_p.D100Y	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	137	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						CAAGGATGGAGATGAGCAACT	0.453		NaN											1	0	2.41591e-17	0.004656	2.69224e-17	28	99				
TAGLN3	29114	broad.mit.edu	37	3	111718304	111718304	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:111718304G>A	uc003dym.2	+	2	413	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	TAGLN3_uc003dyl.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyn.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyo.2_Missense_Mutation_p.R12Q	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	12					central nervous system development|muscle organ development						0						GGCTTAAGCCGAGAGGTGCAG	0.587		NaN											0	0	0	0.001855	0	13	61				
PARP14	54625	broad.mit.edu	37	3	122399790	122399790	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:122399790G>T	uc003efq.3	+	1	119	c.60G>T	c.(58-60)CCG>CCT	p.P20P		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CCGACCCCCCGAAGAACTTGA	0.682		NaN											1	0	1.06961e-07	0.00308	1.13626e-07	6	15				
ZXDC	79364	broad.mit.edu	37	3	126191141	126191141	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:126191141C>G	uc003eiv.2	-	2	969	c.915G>C	c.(913-915)GAG>GAC	p.E305D	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E305D	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	305	C2H2-type 5.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		TAAATGTCTTCTCACAGCCTG	0.478		NaN											0	0	0	0.005524	0	36	75				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.00499	0	11	30				
COL6A6	131873	broad.mit.edu	37	3	130282263	130282263	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:130282263C>T	uc010htl.2	+	2	447	c.416C>T	c.(415-417)GCT>GTT	p.A139V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	139	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GTGGTCCTGGCTTCATCTGAG	0.493		NaN											0	0	0	0.010818	0	33	38				
GNB4	59345	broad.mit.edu	37	3	179131259	179131259	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:179131259G>C	uc003fjv.3	-	8	920	c.640C>G	c.(640-642)CGA>GGA	p.R214G	GNB4_uc003fju.3_Missense_Mutation_p.R125G	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	214	WD 4.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATTCCATCTCGAATATCCCAT	0.398		NaN											0	0	0	0.00632	0	27	99				
ST6GAL1	6480	broad.mit.edu	37	3	186793484	186793484	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186793484C>T	uc003frb.2	+	8	1546	c.1114C>T	c.(1114-1116)CTG>TTG	p.L372L	ST6GAL1_uc003frc.2_Silent_p.L141L|ST6GAL1_uc003frd.2_Silent_p.L372L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	372	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTACCACCCGCTGCTCTATGA	0.512		NaN											0	0	0	0.001168	0	6	76				
UCHL1	7345	broad.mit.edu	37	4	41259007	41259007	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:41259007C>G	uc003gvo.2	+	1	110	c.14C>G	c.(13-15)CCG>CGG	p.P5R	UCHL1_uc003gvp.2_5'UTR|UCHL1_uc003gvq.2_5'UTR|UCHL1_uc003gvr.2_5'UTR	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	5	Interaction with ubiquitin.				cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|skin(1)	2						CAGCTCAAGCCGATGGAGATC	0.652		NaN											0	0	0	0.00333	0	22	45				
TET2	54790	broad.mit.edu	37	4	106158065	106158065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:106158065C>T	uc003hxk.2	+	3	3352	c.2966C>T	c.(2965-2967)CCA>CTA	p.P989L	TET2_uc011cez.1_Missense_Mutation_p.P1010L|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P989L|TET2_uc003hxi.1_Missense_Mutation_p.P989L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	989					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGCAAGCCACATGCCTGT	0.463		NaN	Mis N|F		MDS								0	0	0	0.00632	0	29	25				
NPY2R	4887	broad.mit.edu	37	4	156136030	156136030	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:156136030C>T	uc003ioq.2	+	2	1434	c.939C>T	c.(937-939)ATC>ATT	p.I313I	NPY2R_uc003ior.2_Silent_p.I313I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	313	Helical; Name=7; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				TCCACATCATCGCCATGTGCT	0.542		NaN											0	0	0	0.010504	0	22	38				
ETFDH	2110	broad.mit.edu	37	4	159593615	159593615	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:159593615G>T	uc003iqb.2	+	1	339	c.7G>T	c.(7-9)GTG>TTG	p.V3L	C4orf46_uc003iqa.2_5'Flank|C4orf46_uc010iqp.1_5'Flank|ETFDH_uc010iqq.2_RNA|ETFDH_uc011cjg.1_Missense_Mutation_p.V3L|ETFDH_uc010iqr.2_5'UTR	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	3					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAACATGCTGGTGCCGCTAGC	0.652		NaN									OREG0016379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.04996e-18	0.012319	9.05952e-18	19	42				
SDHA	6389	broad.mit.edu	37	5	240522	240522	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:240522G>A	uc003jao.3	+	11	1597	c.1482G>A	c.(1480-1482)ATG>ATA	p.M494I	SDHA_uc011clv.1_Missense_Mutation_p.M494I|SDHA_uc011clw.1_Missense_Mutation_p.M446I|SDHA_uc003jap.3_Missense_Mutation_p.M494I|SDHA_uc003jaq.3_Missense_Mutation_p.M269I|SDHA_uc003jar.3_Missense_Mutation_p.M88I	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	494					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATCTGTCATGAATCTTGACA	0.398		NaN							Familial_Paragangliomas				0	0	0	0.004007	0	14	48				
PAPD7	11044	broad.mit.edu	37	5	6750553	6750553	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:6750553C>T	uc003jdx.1	+	10	1176	c.1047C>T	c.(1045-1047)AGC>AGT	p.S349S	PAPD7_uc011cmn.1_Silent_p.S340S|PAPD7_uc010itl.1_Silent_p.S169S	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	349	Ser-rich.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CGCTGTCCAGCCCCCAGCTCC	0.572		NaN											0	0	0	0.007413	0	20	33				
CCT5	22948	broad.mit.edu	37	5	10254792	10254792	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:10254792A>T	uc003jeq.2	+	3	344	c.173A>T	c.(172-174)GAT>GTT	p.D58V	CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.D58V|CCT5_uc010its.2_Missense_Mutation_p.D58V|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.D20V|CCT5_uc011cmt.1_Intron	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	58					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						TTAGGGCTTGATAAGATGATG	0.418		NaN											0	0	0	0.012319	0	19	74				
C5orf51	285636	broad.mit.edu	37	5	41917223	41917223	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:41917223A>G	uc003jmo.2	+	6	707	c.707A>G	c.(706-708)GAT>GGT	p.D236G		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	hypothetical protein LOC285636	236											0						CATGAAGTGGATACTAGTGTG	0.418		NaN											0	0	0	0.012213	0	33	61				
MAP3K1	4214	broad.mit.edu	37	5	56181840	56181840	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:56181840G>A	uc003jqw.3	+	17	4565	c.4064G>A	c.(4063-4065)CGT>CAT	p.R1355H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1355	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGTTACTCCGTGGCCTTTCG	0.338		NaN											0	0	0	0.007291	0	25	43				
MEF2C	4208	broad.mit.edu	37	5	88018629	88018629	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:88018629G>C	uc003kjj.2	-	11	1887	c.1214C>G	c.(1213-1215)CCT>CGT	p.P405R	MEF2C_uc003kji.2_Missense_Mutation_p.P397R|MEF2C_uc003kjk.2_Missense_Mutation_p.P405R|MEF2C_uc003kjm.2_Missense_Mutation_p.P395R|MEF2C_uc003kjl.2_Missense_Mutation_p.P415R	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	405					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTATCTCGAAGGGGTGGTGGT	0.532		NaN								HNSCC(66;0.2)			0	0	0	0.00245	0	14	31				
SNCAIP	9627	broad.mit.edu	37	5	121786478	121786478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:121786478C>T	uc003ksw.1	+	10	2142	c.1936C>T	c.(1936-1938)CAG>TAG	p.Q646*	SNCAIP_uc011cwl.1_Nonsense_Mutation_p.Q204*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.Q693*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc010jcu.2_Nonsense_Mutation_p.Q242*|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.Q278*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.Q340*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.Q586*|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Nonsense_Mutation_p.Q162*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	646					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGGATGCTCAGGCTTCCTC	0.443		NaN											0	0	0	0.006214	0	10	47				
RAPGEF6	51735	broad.mit.edu	37	5	130799891	130799891	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:130799891C>T	uc003kvn.1	-	18	2529	c.2323G>A	c.(2323-2325)GAA>AAA	p.E775K	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E825K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E780K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E775K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E775K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E492K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E775K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E775K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	775	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTACTTCTTTAGCTGTG	0.368		NaN											0	0	0	0.014323	0	23	30				
DDX46	9879	broad.mit.edu	37	5	134143532	134143532	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:134143532A>C	uc003kzw.2	+	16	2217	c.2049A>C	c.(2047-2049)CTA>CTC	p.L683L	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	683	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGAGGTCTAGATGTGAAAC	0.438		NaN											0	0	0	0.014323	0	22	37				
FAM13B	51306	broad.mit.edu	37	5	137278576	137278576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:137278576C>G	uc003lbz.2	-	21	3044	c.2510G>C	c.(2509-2511)CGA>CCA	p.R837P	FAM13B_uc003lcb.2_Missense_Mutation_p.R713P|FAM13B_uc003lca.2_Missense_Mutation_p.R809P	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	837					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AGAAGCTGCTCGAGAACTTGA	0.323		NaN											0	0	0	0.003271	0	35	43				
PCDHA11	56138	broad.mit.edu	37	5	140249821	140249821	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:140249821C>G	uc003lia.2	+	1	1991	c.1133C>G	c.(1132-1134)TCA>TGA	p.S378*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Nonsense_Mutation_p.S378*	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	378	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTGACTCAGGTGTCAAC	0.587		NaN											0	0	0	0.00499	0	18	72				
ARHGEF37	389337	broad.mit.edu	37	5	149011634	149011634	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:149011634C>A	uc003lra.1	+	13	1972	c.1908C>A	c.(1906-1908)GAC>GAA	p.D636E		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	636	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						AGGCCCAGGACAAGAAGGGGA	0.592		NaN											1	0	0.00198382	0.001984	0.00201935	7	50				
SLC36A3	285641	broad.mit.edu	37	5	150660726	150660726	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:150660726C>T	uc003ltw.2	-	9	1412	c.993G>A	c.(991-993)AAG>AAA	p.K331K	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.K316K|SLC36A3_uc003ltx.2_Silent_p.K372K	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	331	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACATCAGCTTGACTGACT	0.517		NaN											0	0	0	0.006214	0	8	60				
CYFIP2	26999	broad.mit.edu	37	5	156714072	156714072	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:156714072G>T	uc003lwq.2	+	3	300	c.162G>T	c.(160-162)ACG>ACT	p.T54T	CYFIP2_uc011ddn.1_Silent_p.T54T|CYFIP2_uc011ddo.1_Silent_p.T54T|CYFIP2_uc003lwr.2_Silent_p.T54T|CYFIP2_uc003lws.2_Silent_p.T54T|CYFIP2_uc003lwp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	54					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTTGTCACGGGCATTGCAA	0.502		NaN											1	0	2.56e-06	0.009096	2.67779e-06	3	29				
GABRA6	2559	broad.mit.edu	37	5	161128777	161128777	+	Nonstop_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:161128777T>A	uc003lyu.2	+	9	1698	c.1360T>A	c.(1360-1362)TAG>AAG	p.*454K	GABRA6_uc003lyv.2_Nonstop_Mutation_p.*225K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	454					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGTGTTGAATAGCTTGCGGC	0.383		NaN								TCGA Ovarian(5;0.080)			0	0	0	0.003163	0	14	68				
TLX3	30012	broad.mit.edu	37	5	170737358	170737358	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:170737358A>T	uc003mbf.2	+	2	708	c.626A>T	c.(625-627)CAG>CTG	p.Q209L	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	209	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACGGACGCGCAGGTCAAGACC	0.642		NaN	T	BCL11B	T-ALL								0	0	0	0.009096	0	3	15				
FOXC1	2296	broad.mit.edu	37	6	1610867	1610867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:1610867G>A	uc003mtp.2	+	1	187	c.187G>A	c.(187-189)GCC>ACC	p.A63T		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	63					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CATGGCCCGCGCCTACGGGCC	0.612		NaN											0	0	0	0.009096	0	4	44				
TFAP2A	7020	broad.mit.edu	37	6	10400738	10400738	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:10400738C>G	uc003myr.2	-	6	1220	c.968G>C	c.(967-969)CGA>CCA	p.R323P	TFAP2A_uc003myq.2_Missense_Mutation_p.R317P|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Intron|TFAP2A_uc003myt.2_Missense_Mutation_p.R319P	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	323	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGAATGTTGTCGGTTGAGAAA	0.488		NaN											0	0	0	0.00333	0	24	62				
MICA	4276	broad.mit.edu	37	6	31378395	31378395	+	Missense_Mutation	SNP	T	T	C	rs17200158		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31378395T>C	uc003ntk.1	+	2	185	c.146T>C	c.(145-147)GTA>GCA	p.V49A	MICA_uc003rxz.1_5'UTR					RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;												0		Ovarian(999;0.0253)				CTTGCTGAGGTACATCTGGAT	0.542		NaN											0	0	0	0.000602	0	5	23				
C6orf27	80737	broad.mit.edu	37	6	31733543	31733543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31733543C>T	uc011dog.1	-	17	2742	c.2504G>A	c.(2503-2505)CGG>CAG	p.R835Q		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	835						extracellular region		p.R835Q(1)		ovary(3)	3						GGTGGTGTGCCGGTCCTGTGG	0.597		NaN											0	0	0	0.004672	0	3	34				
AGPAT1	10554	broad.mit.edu	37	6	32138226	32138226	+	Silent	SNP	G	G	A	rs141411867		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:32138226G>A	uc003oae.2	-	4	804	c.486C>T	c.(484-486)GTC>GTT	p.V162V	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.V126V|AGPAT1_uc003oaf.2_Silent_p.V162V|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.V162V|AGPAT1_uc003oai.1_Silent_p.V162V|AGPAT1_uc011dpl.1_Silent_p.V50V	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	162					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GGGTCTGGGCGACCTCAGACA	0.582		NaN											0	0	0	0.00632	0	28	45				
PACSIN1	29993	broad.mit.edu	37	6	34494142	34494143	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:34494142_34494143GG>CT	uc003ojo.2	+	2	266_267	c.60_61GG>CT	c.(58-63)TGGGAG>TGCTAG	p.20_21WE>C*	PACSIN1_uc003ojp.2_Nonsense_Mutation_p.20_21WE>C*	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	20_21	FCH.				endocytosis		protein kinase activity				0						ACAGCTTCTGGGAGGTGAGGCT	0.629		NaN											0	0	0	0.004672	0	8	26				
PHF3	23469	broad.mit.edu	37	6	64408130	64408130	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:64408130G>C	uc003pep.1	+	6	2724	c.2698G>C	c.(2698-2700)GAG>CAG	p.E900Q	PHF3_uc010kag.1_Missense_Mutation_p.E812Q|PHF3_uc010kah.1_Missense_Mutation_p.E714Q|PHF3_uc003pen.2_Missense_Mutation_p.E812Q|PHF3_uc011dxs.1_Missense_Mutation_p.E169Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	900					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAGAAGCAAGAGATGAAAAA	0.333		NaN											0	0	0	0.008361	0	28	58				
DOPEY1	23033	broad.mit.edu	37	6	83848597	83848597	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:83848597T>A	uc003pjs.1	+	21	5096	c.4836T>A	c.(4834-4836)TCT>TCA	p.S1612S	DOPEY1_uc011dyy.1_Silent_p.S1603S|DOPEY1_uc010kbl.1_Silent_p.S1603S|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1612					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGTTGTATCTGACTTAGAAC	0.413		NaN											0	0	0	0.008361	0	31	47				
C6orf170	221322	broad.mit.edu	37	6	121577357	121577357	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:121577357G>C	uc003pyo.1	-	16	1876	c.1808C>G	c.(1807-1809)TCA>TGA	p.S603*	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Nonsense_Mutation_p.S122*	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	603					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		CAACATTTCTGATCCAGAAAA	0.343		NaN											0	0	0	0.006122	0	18	32				
C7orf28B	221960	broad.mit.edu	37	7	6862992	6862992	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:6862992C>A	uc003sqx.1	-	5	424	c.391_splice	c.e5-1	p.D131_splice	C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_3'UTR	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960							lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		AAACCTTGTCCTGCAGACGCG	0.478		NaN											1	0	1.06961e-07	0.00308	1.13626e-07	5	37				
BAZ1B	9031	broad.mit.edu	37	7	72883944	72883944	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:72883944G>A	uc003tyc.2	-	9	3114	c.2769C>T	c.(2767-2769)TTC>TTT	p.F923F		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	923					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTTTCAATGAATAATCCTG	0.418		NaN											0	0	0	0.003163	0	16	56				
SEMA3A	10371	broad.mit.edu	37	7	83758479	83758479	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:83758479G>T	uc003uhz.2	-	3	608	c.293C>A	c.(292-294)ACC>AAC	p.T98N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	98	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATCTCTTCTGGTGTAAGATAC	0.299		NaN											1	0	1.75199e-13	0.007291	1.92099e-13	24	78				
SEMA3D	223117	broad.mit.edu	37	7	84628794	84628794	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:84628794T>C	uc003uic.2	-	17	2336	c.2296A>G	c.(2296-2298)AGA>GGA	p.R766G	SEMA3D_uc010led.2_Missense_Mutation_p.R766G|SEMA3D_uc003uib.2_Missense_Mutation_p.R405G	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	766	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TCCAGGTCTCTGTGATGTCTT	0.433		NaN											0	0	0	0.00333	0	25	51				
SAMD9	54809	broad.mit.edu	37	7	92732105	92732105	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:92732105A>G	uc003umf.2	-	3	3562	c.3306T>C	c.(3304-3306)GCT>GCC	p.A1102A	SAMD9_uc003umg.2_Silent_p.A1102A	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1102						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAGTTTAGAGCATTGCCAA	0.373		NaN											0	0	0	0.003271	0	35	111				
MLL5	55904	broad.mit.edu	37	7	104752743	104752743	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:104752743A>C	uc003vcm.2	+	27	5074	c.4540A>C	c.(4540-4542)ACT>CCT	p.T1514P	MLL5_uc010ljc.2_Missense_Mutation_p.T1514P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.T248P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1514	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCAGCAGGCAACTTCTGGAAC	0.473		NaN											0	0	0	0.00632	0	28	57				
FLNC	2318	broad.mit.edu	37	7	128484781	128484781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:128484781A>T	uc003vnz.3	+	21	3471	c.3262A>T	c.(3262-3264)AAG>TAG	p.K1088*	FLNC_uc003voa.3_Nonsense_Mutation_p.K1088*	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1088	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CATCGACACCAAGGGGGCTGG	0.632		NaN											0	0	0	0.007413	0	19	54				
AHCYL2	23382	broad.mit.edu	37	7	129062699	129062699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129062699G>A	uc011kov.1	+	13	1534	c.1480G>A	c.(1480-1482)GAA>AAA	p.E494K	AHCYL2_uc003vot.2_Missense_Mutation_p.E493K|AHCYL2_uc003vov.2_Missense_Mutation_p.E391K|AHCYL2_uc011kow.1_Missense_Mutation_p.E392K|AHCYL2_uc011kox.1_Missense_Mutation_p.E391K	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	494					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GCGGACACCAGAACTGACCTG	0.512		NaN											0	0	0	0.00499	0	15	57				
ZC3HC1	51530	broad.mit.edu	37	7	129663417	129663417	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129663417G>C	uc003vpi.2	-	8	1194	c.1167C>G	c.(1165-1167)GGC>GGG	p.G389G	ZC3HC1_uc003vph.2_Silent_p.G233G|ZC3HC1_uc010lma.2_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	389					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					GTACCTCCAGGCCAGGGGTGT	0.617		NaN											0	0	0	0.00278	0	24	101				
CSGALNACT1	55790	broad.mit.edu	37	8	19263328	19263328	+	Missense_Mutation	SNP	C	C	G	rs61910741	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:19263328C>G	uc011kyn.1	-	10	2626	c.1562G>C	c.(1561-1563)CGC>CCC	p.R521P	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R521P|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R520P	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	521	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TTTCTGTTTGCGAAGGTGAGC	0.488		NaN											0	0	0	0.000602	0	4	77				
WRN	7486	broad.mit.edu	37	8	30998994	30998994	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:30998994A>C	uc003xio.3	+	25	3804	c.3016A>C	c.(3016-3018)ACT>CCT	p.T1006P	WRN_uc010lvk.2_Missense_Mutation_p.T473P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1006					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTATTTGGCACTGGCAAGGA	0.383		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	0.010504	0	19	42				
KIAA1429	25962	broad.mit.edu	37	8	95523580	95523580	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:95523580C>T	uc003ygo.1	-	13	3236	c.3223G>A	c.(3223-3225)GTT>ATT	p.V1075I	KIAA1429_uc003ygp.2_Missense_Mutation_p.V1075I|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1075					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCATTAACTCCTTGTGTA	0.363		NaN											0	0	0	0.003163	0	15	25				
PTDSS1	9791	broad.mit.edu	37	8	97342490	97342490	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:97342490A>G	uc003yht.1	+	11	1325	c.1223A>G	c.(1222-1224)CAC>CGC	p.H408R	PTDSS1_uc003yhu.1_Missense_Mutation_p.H262R	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	408					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TATGCAGAACACTATGGTCAC	0.463		NaN											0	0	0	0.00499	0	17	37				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NaN											0	0	0	0.004007	0	11	30				
KHDRBS3	10656	broad.mit.edu	37	8	136619260	136619260	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:136619260C>A	uc003yuv.2	+	7	1264	c.870C>A	c.(868-870)AGC>AGA	p.S290R	KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	290	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATAACAGCTATAGCACCC	0.403		NaN											1	0	2.28855e-06	0.004289	2.40121e-06	32	89				
GPR172A	79581	broad.mit.edu	37	8	145583976	145583976	+	Missense_Mutation	SNP	G	G	A	rs144912258	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:145583976G>A	uc003zcc.1	+	3	981	c.824G>A	c.(823-825)CGC>CAC	p.R275H	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R275H|GPR172A_uc003zce.1_Missense_Mutation_p.R275H|GPR172A_uc010mfy.1_Missense_Mutation_p.R275H|GPR172A_uc003zcf.1_Missense_Mutation_p.R275H|GPR172A_uc011llc.1_Missense_Mutation_p.R187H	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	275						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTATCAGCCCGCAGTGCCTGC	0.632		NaN											0	0	0	0.010818	0	29	60				
NFIB	4781	broad.mit.edu	37	9	14146709	14146709	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14146709T>C	uc003zle.2	-	6	1339	c.904A>G	c.(904-906)ACA>GCA	p.T302A	NFIB_uc003zld.2_Missense_Mutation_p.T50A|NFIB_uc003zlf.2_Missense_Mutation_p.T302A|NFIB_uc011lmo.1_Missense_Mutation_p.T302A	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	302					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCGTGCCATGTTCGACTTCCA	0.418		NaN	T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								0	0	0	0.003271	0	32	76				
FREM1	158326	broad.mit.edu	37	9	14819292	14819292	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14819292C>G	uc003zlm.2	-	14	3076	c.2486G>C	c.(2485-2487)GGA>GCA	p.G829A	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	829	CSPG 5.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGAGGAAATCCATTCAGCTC	0.428		NaN											0	0	0	0.006214	0	9	29				
NOL6	65083	broad.mit.edu	37	9	33467712	33467712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:33467712G>A	uc003zsz.2	-	12	1680	c.1579C>T	c.(1579-1581)CAC>TAC	p.H527Y	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H527Y|NOL6_uc010mjv.2_Missense_Mutation_p.H524Y|NOL6_uc011lob.1_Missense_Mutation_p.H475Y|NOL6_uc003ztb.1_Missense_Mutation_p.H527Y	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	527					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTCGAGAGTGAGCCAGCAGG	0.622		NaN											0	0	0	0.010729	0	12	41				
C9orf25	203259	broad.mit.edu	37	9	34401056	34401056	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34401056T>C	uc011lok.1	-	6	771	c.464A>G	c.(463-465)GAC>GGC	p.D155G	C9orf25_uc003zuj.2_Missense_Mutation_p.D138G|C9orf25_uc003zuk.2_Missense_Mutation_p.D127G|C9orf25_uc011lol.1_Missense_Mutation_p.D143G|C9orf25_uc003zul.2_Missense_Mutation_p.D126G	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	155											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		GTCCTCGTCGTCGGGGATCTC	0.617		NaN											0	0	0	0.001855	0	13	73				
KIAA1045	23349	broad.mit.edu	37	9	34971556	34971556	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34971556C>T	uc003zvq.2	+	2	439	c.261C>T	c.(259-261)GGC>GGT	p.G87G	KIAA1045_uc003zvr.2_Silent_p.G87G	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	87							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			ATGGGCGCGGCGTGGAGCCTG	0.617		NaN											0	0	0	0.01441	0	54	107				
POLR1E	64425	broad.mit.edu	37	9	37486692	37486692	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:37486692T>G	uc003zzz.1	+	1	543	c.255T>G	c.(253-255)ACT>ACG	p.T85T	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	85					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGGGCTGCACTCTTACAGTCC	0.453		NaN											0	0	0	0.003755	0	31	91				
ANKRD20A4	728747	broad.mit.edu	37	9	69423627	69423627	+	Silent	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:69423627T>C	uc004afn.2	+	15	2035	c.1923T>C	c.(1921-1923)TCT>TCC	p.S641S	uc010mnx.1_5'Flank	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	641	Potential.										0						AAGATGTTTCTGTACAAGTAG	0.338		NaN											0	0	0	0.011902	0	34	305				
ZFAND5	7763	broad.mit.edu	37	9	74970975	74970975	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:74970975C>G	uc004aiv.2	-	6	814	c.536G>C	c.(535-537)CGT>CCT	p.R179P	ZFAND5_uc010mox.1_Missense_Mutation_p.R76P|ZFAND5_uc010moy.1_Missense_Mutation_p.R179P|ZFAND5_uc004aix.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiw.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiy.2_Missense_Mutation_p.R179P	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	179	AN1-type.						DNA binding|zinc ion binding				0						GTCAGAGTAACGGTGAAGTCC	0.383		NaN											0	0	0	0.00333	0	23	51				
PCSK5	5125	broad.mit.edu	37	9	78506171	78506171	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:78506171G>T	uc004ajz.2	+	1	612	c.74G>T	c.(73-75)TGC>TTC	p.C25F	PCSK5_uc004ajy.2_Missense_Mutation_p.C25F|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	25					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						CTCGGGGGCTGCCTGCTCCCC	0.701		NaN											1	0	2.98393e-07	0.00278	3.15022e-07	24	57				
GKAP1	80318	broad.mit.edu	37	9	86403527	86403527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:86403527C>G	uc004amy.2	-	5	923	c.427G>C	c.(427-429)GAG>CAG	p.E143Q	GKAP1_uc004amz.2_Missense_Mutation_p.E143Q|GKAP1_uc011lsu.1_RNA	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	143	Potential.				signal transduction	Golgi apparatus					0						TTTTTGTGCTCTTCATATTCT	0.284		NaN											0	0	0	0.009535	0	30	73				
NTRK2	4915	broad.mit.edu	37	9	87338533	87338533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:87338533A>T	uc004aoa.1	+	9	1567	c.629A>T	c.(628-630)GAA>GTA	p.E210V	NTRK2_uc004anv.1_Missense_Mutation_p.E210V|NTRK2_uc004any.1_Missense_Mutation_p.E210V|NTRK2_uc004anz.1_Missense_Mutation_p.E210V|NTRK2_uc011lsz.1_Missense_Mutation_p.E210V|NTRK2_uc011lta.1_Missense_Mutation_p.E210V|NTRK2_uc004aob.1_Missense_Mutation_p.E210V|NTRK2_uc011ltb.1_Missense_Mutation_p.E54V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	210	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						ACTGTGGAGGAAGGAAAGTCT	0.423		NaN								TSP Lung(25;0.17)			0	0	0	0.00333	0	26	92				
TTLL11	158135	broad.mit.edu	37	9	124751938	124751938	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:124751938G>A	uc004blt.1	-	4	1263	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	TTLL11_uc011lyl.1_Missense_Mutation_p.R359C|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.R36C|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CCTGCCAGGCGGATGTCACTG	0.517		NaN											0	0	0	0.01441	0	50	110				
OR1J2	26740	broad.mit.edu	37	9	125273238	125273238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:125273238C>G	uc004bmj.1	+	4	1013	c.158C>G	c.(157-159)TCT>TGT	p.S53C	OR1J2_uc011lyv.1_Missense_Mutation_p.S53C	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CAGCTGGACTCTCACCTTCAC	0.557		NaN											0	0	0	0.01441	0	64	141				
RALGPS1	9649	broad.mit.edu	37	9	129957439	129957439	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:129957439G>A	uc004bqo.1	+	12	1247	c.980G>A	c.(979-981)GGC>GAC	p.G327D	RALGPS1_uc011mac.1_Missense_Mutation_p.G327D|RALGPS1_uc004bqq.3_Missense_Mutation_p.G327D	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	327					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						TCTGTTGCTGGCAGCCTCCCC	0.632		NaN											0	0	0	0.005443	0	27	83				
TTF1	7270	broad.mit.edu	37	9	135275538	135275538	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:135275538C>G	uc004cbl.2	-	3	1527	c.1475G>C	c.(1474-1476)GGT>GCT	p.G492A	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_5'UTR	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	492					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACGGCAGAACCCAAATCCGC	0.468		NaN											0	0	0	0.008361	0	32	105				
FCN1	2219	broad.mit.edu	37	9	137804955	137804955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:137804955C>T	uc004cfi.2	-	6	467	c.375G>A	c.(373-375)GGG>GGA	p.G125G		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	125	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCAGGAAATACCCCCGGTCTA	0.677		NaN											0	0	0	0.006214	0	10	12				
MXRA5	25878	broad.mit.edu	37	X	3241401	3241401	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:3241401G>C	uc004crg.3	-	5	2482	c.2325C>G	c.(2323-2325)AAC>AAG	p.N775K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	775						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAATCTGTTTGTTTGCCATGT	0.443		NaN											0	0	0	0.01441	0	46	30				
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:24024257T>C	uc004dba.3	-	3	810	c.554A>G	c.(553-555)GAT>GGT	p.D185G		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	185	BACK.									ovary(1)|breast(1)	2						ATGATCATTATCCAAGTAAGA	0.478		NaN											0	0	0	0.001168	0	5	96				
KIAA2022	340533	broad.mit.edu	37	X	73961258	73961258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:73961258G>C	uc004eby.2	-	3	3751	c.3134C>G	c.(3133-3135)CCA>CGA	p.P1045R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1045					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTCCTTTAGTGGTGCTATCTC	0.502		NaN											0	0	0	0.004289	0	38	21				
MAGEE1	57692	broad.mit.edu	37	X	75649899	75649899	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:75649899C>T	uc004ecm.1	+	1	1783	c.1576C>T	c.(1576-1578)CGC>TGC	p.R526C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	526	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						TAAAGAATATCGCAACCAGTT	0.478		NaN											0	0	0	0.00278	0	22	5				
TMEM164	84187	broad.mit.edu	37	X	109416577	109416577	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:109416577C>A	uc004eom.2	+	7	1111	c.792C>A	c.(790-792)ACC>ACA	p.T264T	TMEM164_uc004eol.2_Silent_p.T115T|TMEM164_uc010npq.2_Silent_p.T225T|TMEM164_uc004eon.1_5'Flank	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN	transmembrane protein 164 isoform b	264	Helical; (Potential).					integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						CTCTCATGACCATGACCCACG	0.532		NaN											1	0	6.68952e-21	0.013114	7.5534e-21	44	29				
XIAP	331	broad.mit.edu	37	X	123040977	123040977	+	Silent	SNP	G	G	A	rs61757634		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123040977G>A	uc010nqu.2	+	7	1566	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K	XIAP_uc004etx.2_Silent_p.K480K|XIAP_uc010nqv.2_Silent_p.K106K	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	480	RING-type.				anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2						CAGTTGACAAGTGTCCCATGT	0.343		NaN							X-linked_Lymphoproliferative_syndrome				0	0	0	0.00623	0	41	22				
MAGEC2	51438	broad.mit.edu	37	X	141290659	141290659	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:141290659G>A	uc004fbu.1	-	3	1463	c.1115C>T	c.(1114-1116)TCT>TTT	p.S372F		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	372						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCACTCAGAAAAGGAGAC	0.512		NaN								HNSCC(46;0.14)			0	0	0	0.007835	0	40	22				
SLITRK4	139065	broad.mit.edu	37	X	142718330	142718330	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:142718330G>A	uc004fbx.2	-	2	971	c.595C>T	c.(595-597)CTG>TTG	p.L199L	SLITRK4_uc004fby.2_Silent_p.L199L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	199	Extracellular (Potential).|LRR 6.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTTCCAGAACCCCGATA	0.443		NaN											0	0	0	0.01441	0	48	35				
SAMD11	148398	broad.mit.edu	37	1	865617	865617	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:865617C>G	uc001abw.1	+	3	235	c.155C>G	c.(154-156)TCT>TGT	p.S52C	SAMD11_uc001abv.1_Missense_Mutation_p.S52C	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	52						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCAGCTTCTCTGCCAGCGAT	0.597		NaN											0	0	0	0.001984	0	6	20				
TAS1R1	80835	broad.mit.edu	37	1	6639125	6639125	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639125C>G	uc001ant.2	+	6	2007	c.2007C>G	c.(2005-2007)TTC>TTG	p.F669L	TAS1R1_uc001anu.2_Missense_Mutation_p.F415L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	669	Cytoplasmic (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACCTACATTCTACCACGCCT	0.522		NaN											0	0	0	0.009718	0	37	83				
TAS1R1	80835	broad.mit.edu	37	1	6639332	6639332	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639332C>T	uc001ant.2	+	6	2214	c.2214C>T	c.(2212-2214)CTC>CTT	p.L738L	TAS1R1_uc001anu.2_Silent_p.L484L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	738	Helical; Name=5; (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGCCTCCTCTCCATCAGTG	0.542		NaN											0	0	0	0.006122	0	18	48				
TAS1R1	80835	broad.mit.edu	37	1	6639338	6639338	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639338C>T	uc001ant.2	+	6	2220	c.2220C>T	c.(2218-2220)ATC>ATT	p.I740I	TAS1R1_uc001anu.2_Silent_p.I486I|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	740	Helical; Name=5; (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTCTCCATCAGTGCCTTTG	0.547		NaN											0	0	0	0.00499	0	18	52				
PTCHD2	57540	broad.mit.edu	37	1	11561856	11561856	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:11561856G>A	uc001ash.3	+	2	945	c.807G>A	c.(805-807)ACG>ACA	p.T269T	PTCHD2_uc001asi.1_Silent_p.T269T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	269	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACACTCAGACGCACGCGCACT	0.677		NaN											0	0	0	0.001368	0	12	20				
LHX8	431707	broad.mit.edu	37	1	75609605	75609605	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:75609605G>A	uc001dgo.2	+	7	1350	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	LHX8_uc001dgq.2_Missense_Mutation_p.R168Q	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	229	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AAAAGAGCTCGGACCAGCTTT	0.403		NaN											0	0	0	0.001855	0	14	37				
ODF2L	57489	broad.mit.edu	37	1	86842058	86842058	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:86842058A>G	uc001dll.1	-	8	1008	c.668T>C	c.(667-669)ATG>ACG	p.M223T	ODF2L_uc001dlm.1_Missense_Mutation_p.M223T|ODF2L_uc001dln.2_Missense_Mutation_p.M223T|ODF2L_uc001dlo.2_Missense_Mutation_p.M92T|ODF2L_uc001dlp.2_Missense_Mutation_p.M223T|ODF2L_uc010osg.1_Missense_Mutation_p.M223T|ODF2L_uc001dlq.1_Missense_Mutation_p.M53T|ODF2L_uc009wcr.1_Missense_Mutation_p.M92T	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	223						centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		ATTCTTATTCATTCTTGATTG	0.313		NaN											0	0	0	0.001368	0	11	25				
KIAA1324	57535	broad.mit.edu	37	1	109732234	109732234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:109732234C>T	uc001dwq.2	+	12	1505	c.1369C>T	c.(1369-1371)CAC>TAC	p.H457Y	KIAA1324_uc009wex.1_Missense_Mutation_p.H407Y|KIAA1324_uc009wey.2_Missense_Mutation_p.H370Y|KIAA1324_uc010ovg.1_Missense_Mutation_p.H355Y|KIAA1324_uc001dwr.2_Missense_Mutation_p.H107Y	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	457	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGCTGGTGATCACATTTACAC	0.517		NaN											0	0	0	0.00499	0	15	21				
DDX20	11218	broad.mit.edu	37	1	112308378	112308378	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:112308378G>C	uc001ebs.2	+	11	1689	c.1332G>C	c.(1330-1332)CTG>CTC	p.L444L	DDX20_uc010owf.1_Silent_p.L206L|DDX20_uc001ebt.2_Silent_p.L52L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	444	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTGGTCTGATGGAAGAAT	0.353		NaN											0	0	0	0.004878	0	38	74				
BCL9	607	broad.mit.edu	37	1	147090999	147090999	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:147090999G>C	uc001epq.2	+	8	1778	c.1038G>C	c.(1036-1038)GAG>GAC	p.E346D	BCL9_uc010ozr.1_Missense_Mutation_p.E272D	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	346	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CACTGGGAGAGAATCCCGATG	0.577		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.00361	0	74	167				
HAX1	10456	broad.mit.edu	37	1	154245817	154245817	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:154245817G>A	uc001fes.2	+	2	220	c.59G>A	c.(58-60)AGA>AAA	p.R20K	HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.R20K|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	20	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCAGCCACAGAGATCCCTTT	0.493		NaN							Kostmann_syndrome				0	0	0	0.009535	0	31	114				
C1orf114	57821	broad.mit.edu	37	1	169390861	169390861	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:169390861C>G	uc001gga.1	-	3	976	c.808G>C	c.(808-810)GAA>CAA	p.E270Q	C1orf114_uc001gfz.1_Missense_Mutation_p.E270Q|C1orf114_uc009wvq.1_Missense_Mutation_p.E270Q|C1orf114_uc001ggb.2_Missense_Mutation_p.E270Q|C1orf114_uc001ggc.1_Missense_Mutation_p.E270Q	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	270											0	all_hematologic(923;0.208)					GTAGAATCTTCTTTCTTGGTG	0.468		NaN											0	0	0	0.00361	0	50	170				
METTL13	51603	broad.mit.edu	37	1	171753057	171753057	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:171753057C>T	uc001ghz.2	+	2	678	c.331C>T	c.(331-333)CCT>TCT	p.P111S	METTL13_uc001gia.2_Missense_Mutation_p.P25S|METTL13_uc001gib.2_Missense_Mutation_p.P111S|METTL13_uc010pml.1_Missense_Mutation_p.P110S	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	111							methyltransferase activity|protein binding			kidney(1)	1						GATGGAGTTTCCTGATGCCTC	0.527		NaN											0	0	0	0.008871	0	21	75				
RC3H1	149041	broad.mit.edu	37	1	173930937	173930937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:173930937C>G	uc001gju.3	-	11	2215	c.2128G>C	c.(2128-2130)GAA>CAA	p.E710Q	RC3H1_uc010pms.1_Missense_Mutation_p.E710Q|RC3H1_uc001gjv.2_Missense_Mutation_p.E710Q|RC3H1_uc010pmt.1_Missense_Mutation_p.E710Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	710	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TGGTATCTTTCTCTGGATTCT	0.438		NaN											0	0	0	0.00361	0	59	196				
LAMC1	3915	broad.mit.edu	37	1	183096408	183096408	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:183096408G>A	uc001gpy.3	+	17	3249	c.2992G>A	c.(2992-2994)GAT>AAT	p.D998N		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	998	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCAAAGATGATGGTCGCTG	0.433		NaN											0	0	0	0.00499	0	18	54				
C1orf26	54823	broad.mit.edu	37	1	185130013	185130013	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:185130013C>G	uc001grg.3	+	2	154	c.40C>G	c.(40-42)CAG>GAG	p.Q14E	C1orf26_uc001grh.3_Missense_Mutation_p.Q14E	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	14											0						AGAGACATCTCAGAGGAAAGA	0.323		NaN											0	0	0	0.008871	0	15	51				
CHIT1	1118	broad.mit.edu	37	1	203192777	203192777	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:203192777A>T	uc001gzn.2	-	5	422	c.326T>A	c.(325-327)ATG>AAG	p.M109K	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.M100K	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	109					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						CGTGGCTACCATATCTGTGAA	0.542		NaN											0	0	0	0.00361	0	51	180				
REN	5972	broad.mit.edu	37	1	204125342	204125342	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:204125342G>A	uc001haq.2	-	8	968	c.924C>T	c.(922-924)CTC>CTT	p.L308L		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	308					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGGCCTCCATGAGCTTCTCTA	0.562		NaN											0	0	0	0.00361	0	100	357				
DISP1	84976	broad.mit.edu	37	1	223116319	223116319	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:223116319C>T	uc001hnu.1	+	2	301	c.154C>T	c.(154-156)CCA>TCA	p.P52S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	52					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AAAAGTGAGTCCAAATGGATG	0.512		NaN											0	0	0	0.001882	0	22	78				
C1orf35	79169	broad.mit.edu	37	1	228288840	228288840	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228288840C>T	uc001hrx.2	-	8	878	c.784G>A	c.(784-786)GAG>AAG	p.E262K	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	262				E -> K (in Ref. 1; AAN15215).							0		Prostate(94;0.0488)				CATCAGGCCTCAGAGCCTCTG	0.627		NaN											0	0	0	0.002522	0	44	108				
OBSCN	84033	broad.mit.edu	37	1	228556048	228556048	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228556048C>T	uc009xez.1	+	88	19742	c.19698C>T	c.(19696-19698)GTC>GTT	p.V6566V	OBSCN_uc001hsr.1_Silent_p.V1195V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6566	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGTCAAGGTCTACATCCAGC	0.622		NaN											0	0	0	0.009096	0	4	9				
EXOC8	149371	broad.mit.edu	37	1	231473425	231473425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:231473425C>G	uc001huq.2	-	1	154	c.67G>C	c.(67-69)GAG>CAG	p.E23Q	C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	23					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCGCGCCTCAAAACCCCCT	0.667		NaN											0	0	0	0.004878	0	35	109				
GAD2	2572	broad.mit.edu	37	10	26558051	26558051	+	Silent	SNP	G	G	T	rs149629039	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:26558051G>T	uc001isp.2	+	9	1427	c.924G>T	c.(922-924)GGG>GGT	p.G308G	GAD2_uc001isq.2_Silent_p.G308G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CTTCCAGAGGGAAAATGATTC	0.403		NaN											1	0	9.16793e-09	0.00499	9.42801e-09	17	42				
ARMC4	55130	broad.mit.edu	37	10	28196616	28196616	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:28196616G>C	uc009xky.2	-	17	2684	c.2586C>G	c.(2584-2586)CTC>CTG	p.L862L	ARMC4_uc010qds.1_Silent_p.L387L|ARMC4_uc010qdt.1_Silent_p.L554L|ARMC4_uc001itz.2_Silent_p.L862L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	862	ARM 6.						binding			ovary(4)|skin(2)	6						TGCATGGACAGAGTGCCCATG	0.448		NaN											0	0	0	0.001882	0	21	37				
ANK3	288	broad.mit.edu	37	10	61835134	61835134	+	Silent	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:61835134T>A	uc001jky.2	-	37	5697	c.5505A>T	c.(5503-5505)GCA>GCT	p.A1835A	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1835	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTTTCTTTAATGCTGGTTCTG	0.413		NaN											0	0	0	0.00361	0	53	150				
CDH23	64072	broad.mit.edu	37	10	73572328	73572328	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:73572328G>C	uc001jrx.3	+	65	9849	c.9472G>C	c.(9472-9474)GAG>CAG	p.E3158Q	CDH23_uc001jsg.3_Missense_Mutation_p.E918Q|CDH23_uc001jsh.3_Missense_Mutation_p.E918Q|CDH23_uc001jsi.3_Missense_Mutation_p.E918Q|CDH23_uc001jsj.3_Missense_Mutation_p.E55Q|CDH23_uc010qjr.1_Missense_Mutation_p.E55Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3158	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GAACCTGAGTGAGATCGCCGA	0.642		NaN											0	0	0	0.00623	0	39	72				
ENTPD7	57089	broad.mit.edu	37	10	101460767	101460767	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:101460767G>A	uc001kqa.3	+	11	1551	c.1373G>A	c.(1372-1374)AGA>AAA	p.R458K	ENTPD7_uc009xwl.2_Missense_Mutation_p.R460K	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	458	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTAACTCAGAGATTCAAGAAT	0.443		NaN											0	0	0	0.00361	0	86	168				
DCLRE1A	9937	broad.mit.edu	37	10	115609492	115609492	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115609492G>A	uc001law.2	-	2	2290	c.1372C>T	c.(1372-1374)CTT>TTT	p.L458F		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	458	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACTAACGGAAGAGAAACTTGA	0.343		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.007413	0	19	38				
DCLRE1A	9937	broad.mit.edu	37	10	115610376	115610376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115610376G>C	uc001law.2	-	2	1406	c.488C>G	c.(487-489)TCA>TGA	p.S163*		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	163	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGGAATGGTTGAGGTACACAG	0.408		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.008291	0	9	20				
STK32C	282974	broad.mit.edu	37	10	134059433	134059433	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:134059433G>A	uc001lle.1	-	2	429	c.289C>T	c.(289-291)CGG>TGG	p.R97W	STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.R110W|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	97	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAATGGCCCGAAGGATCTGG	0.627		NaN											0	0	0	0.00333	0	22	58				
B4GALNT4	338707	broad.mit.edu	37	11	376347	376347	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:376347G>A	uc001lpb.2	+	13	1302	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	431	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCAACCCGGACGGTGAGT	0.617		NaN											0	0	0	0.001368	0	12	46				
OR52A4	390053	broad.mit.edu	37	11	5142584	5142584	+	Silent	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:5142584A>T	uc001lzz.1	-	1	225	c.225T>A	c.(223-225)ATT>ATA	p.I75I	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCTAAGTGAAATGTCTGTGG	0.428		NaN											0	0	0	0.00499	0	18	53				
DNHD1	144132	broad.mit.edu	37	11	6592276	6592276	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:6592276G>A	uc001mdw.3	+	42	14098	c.13534G>A	c.(13534-13536)GGC>AGC	p.G4512S	DNHD1_uc001mea.3_Missense_Mutation_p.G781S|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.G780S|DNHD1_uc010rao.1_Missense_Mutation_p.G770S|DNHD1_uc009yfg.2_Missense_Mutation_p.G137S	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4512					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTGAAGGGCGCACCCCC	0.682		NaN											0	0	0	0.003163	0	14	33				
DGKZ	8525	broad.mit.edu	37	11	46398102	46398102	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:46398102C>T	uc001ncn.1	+	25	2879	c.2754C>T	c.(2752-2754)ATC>ATT	p.I918I	DGKZ_uc001nch.1_Silent_p.I746I|DGKZ_uc010rgq.1_Silent_p.I673I|DGKZ_uc001ncj.1_Silent_p.I696I|DGKZ_uc010rgr.1_Silent_p.I695I|DGKZ_uc001nck.1_Silent_p.I508I|DGKZ_uc001ncl.2_Silent_p.I730I|DGKZ_uc001ncm.2_Silent_p.I729I|DGKZ_uc009yky.1_Silent_p.I730I|DGKZ_uc010rgs.1_Silent_p.I707I	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	918					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.I746I(1)		pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTACAGGATCGACCGAGCCC	0.672		NaN											0	0	0	0.002852	0	42	89				
OR4P4	81300	broad.mit.edu	37	11	55406520	55406520	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55406520G>C	uc010rij.1	+	1	687	c.687G>C	c.(685-687)GAG>GAC	p.E229D		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ACTCTGCAGAGAGACGCAGCA	0.383		NaN											0	0	0	0.004656	0	26	56				
OR5F1	338674	broad.mit.edu	37	11	55761768	55761768	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55761768A>G	uc010riv.1	-	1	334	c.334T>C	c.(334-336)TGC>CGC	p.C112R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AAGAGGATGCATTCGGTTGTC	0.473		NaN											0	0	0	0.007835	0	42	103				
PLCB3	5331	broad.mit.edu	37	11	64032574	64032574	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64032574C>T	uc001nzb.2	+	23	2804	c.2804C>T	c.(2803-2805)CCA>CTA	p.P935L	PLCB3_uc009ypg.1_Missense_Mutation_p.P935L|PLCB3_uc009yph.1_Missense_Mutation_p.P868L|PLCB3_uc009ypi.2_Missense_Mutation_p.P935L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	935					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTCAGCAGCCCAGGTAAGGAG	0.721		NaN											0	0	0	0.009096	0	3	4				
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64033997C>T	uc001nzb.2	+	29	3387	c.3387C>T	c.(3385-3387)ATC>ATT	p.I1129I	PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1129					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GTCGGCACATCACTGAGTCAG	0.632		NaN											0	0	0	0.002096	0	28	57				
SF3B2	10992	broad.mit.edu	37	11	65831159	65831159	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:65831159C>G	uc001ogy.1	+	19	2329	c.2289C>G	c.(2287-2289)CTC>CTG	p.L763L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	763					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCCCTGAACTCATTGAGCTGA	0.537		NaN											0	0	0	0.003163	0	13	27				
GSTP1	2950	broad.mit.edu	37	11	67353985	67353985	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353985C>G	uc001omf.2	+	7	819	c.570C>G	c.(568-570)CTC>CTG	p.L190L	GSTP1_uc001omg.1_Silent_p.L171L	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	190	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	GGCCCAAGCTCAAGGCCTTCC	0.627		NaN											0	0	0	0.004007	0	17	28				
GSTP1	2950	broad.mit.edu	37	11	67353995	67353995	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353995C>T	uc001omf.2	+	7	829	c.580C>T	c.(580-582)CTG>TTG	p.L194L	GSTP1_uc001omg.1_Silent_p.L175L	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	194	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CAAGGCCTTCCTGGCCTCCCC	0.622		NaN											0	0	0	0.004007	0	16	23				
PDE2A	5138	broad.mit.edu	37	11	72292403	72292403	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:72292403G>A	uc010rrc.1	-	23	2286	c.2043C>T	c.(2041-2043)CTC>CTT	p.L681L	PDE2A_uc001oso.2_Silent_p.L660L|PDE2A_uc010rra.1_Silent_p.L674L|PDE2A_uc001osn.2_Silent_p.L425L|PDE2A_uc010rrb.1_Silent_p.L672L|PDE2A_uc010rrd.1_Silent_p.L566L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	681	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACTCACTCGAGGTAGTTGG	0.532		NaN											0	0	0	0.006122	0	16	30				
POLD3	10714	broad.mit.edu	37	11	74303737	74303737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:74303737G>A	uc001ovf.1	+	1	109	c.34G>A	c.(34-36)GAG>AAG	p.E12K	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	12					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AAATATAGACGAGTTCGTCAC	0.642		NaN											0	0	0	0.003163	0	15	18				
FAT3	120114	broad.mit.edu	37	11	92531056	92531056	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:92531056G>A	uc001pdj.3	+	9	4894	c.4877G>A	c.(4876-4878)TGC>TAC	p.C1626Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1626	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCACCATTTGCAAAGAACCA	0.453		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.00361	0	47	73				
SIK3	23387	broad.mit.edu	37	11	116741051	116741052	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:116741051_116741052GC>AA	uc001ppy.2	-	14	1665_1666	c.1629_1630GC>TT	c.(1627-1632)GTGCAG>GTTTAG	p.Q544*	SIK3_uc001ppz.2_Nonsense_Mutation_p.Q443*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q496*|SIK3_uc001ppx.2_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	544						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						CATTACCTCTGCACAGCTTCCT	0.594		NaN									OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	12	27				
OR10G4	390264	broad.mit.edu	37	11	123886665	123886665	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:123886665G>A	uc010sac.1	+	1	384	c.384G>A	c.(382-384)CCG>CCA	p.P128P		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTTACCCGCTCAGGTACA	0.557		NaN											0	0	0	0.00361	0	50	125				
GLB1L3	112937	broad.mit.edu	37	11	134181051	134181051	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:134181051C>G	uc009zdf.2	+	13	1634	c.1274C>G	c.(1273-1275)TCC>TGC	p.S425C	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	425					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GACGCCCTATCCTACTTAAAT	0.582		NaN											0	0	0	0.00361	0	114	196				
C12orf53	196500	broad.mit.edu	37	12	6806635	6806635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:6806635C>T	uc001qqf.1	-	3	417	c.341G>A	c.(340-342)CGA>CAA	p.R114Q	C12orf53_uc001qqg.1_Missense_Mutation_p.R114Q	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	114	Extracellular (Potential).					integral to membrane					0						TCCATCCTCTCGAGACACGGT	0.632		NaN											0	0	0	0.006122	0	16	24				
ERGIC2	51290	broad.mit.edu	37	12	29498396	29498396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:29498396G>A	uc001riv.2	-	11	938	c.805C>T	c.(805-807)CAG>TAG	p.Q269*	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	269	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACAGAAAACTGATGGGTGTCT	0.303		NaN											0	0	0	0.002852	0	42	91				
IPO8	10526	broad.mit.edu	37	12	30802107	30802107	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:30802107G>A	uc001rjd.2	-	20	2402	c.2232C>T	c.(2230-2232)GTC>GTT	p.V744V	IPO8_uc001rje.1_Silent_p.V233V|IPO8_uc010sjt.1_Silent_p.V539V	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	744					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGAATGATGACTTCCAGAA	0.428		NaN											0	0	0	0.00623	0	37	77				
DENND5B	160518	broad.mit.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:31540716G>T	uc001rki.1	-	21	3832	c.3646C>A	c.(3646-3648)CGC>AGC	p.R1216S	DENND5B_uc001rkh.1_Missense_Mutation_p.R1251S|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GGGAGCAGGCGATCCCTACAG	0.527		NaN											1	0	2.31682e-05	0.003163	2.34923e-05	15	31				
MLL2	8085	broad.mit.edu	37	12	49427126	49427126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:49427126G>A	uc001rta.3	-	39	11362	c.11362C>T	c.(11362-11364)CAG>TAG	p.Q3788*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3788	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GACAGCTGCTGGACCAGGAGG	0.667		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.000602	0	5	6		Valid		
FMNL3	91010	broad.mit.edu	37	12	50050233	50050233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:50050233C>T	uc001ruv.1	-	9	1073	c.839G>A	c.(838-840)CGA>CAA	p.R280Q	FMNL3_uc001ruw.1_Missense_Mutation_p.R229Q|FMNL3_uc001ruu.1_Missense_Mutation_p.R130Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	280	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GTGACCTCCTCGCACCAAACA	0.512		NaN											0	0	0	0.008291	0	10	32				
MYF5	4617	broad.mit.edu	37	12	81111214	81111214	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:81111214C>G	uc001szg.2	+	1	507	c.372C>G	c.(370-372)CTC>CTG	p.L124L		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	124	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TGGAGATCCTCAGGAATGCCA	0.597		NaN											0	0	0	0.00361	0	52	81				
SLC17A8	246213	broad.mit.edu	37	12	100751235	100751235	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:100751235G>C	uc010svi.1	+	1	379	c.66G>C	c.(64-66)AAG>AAC	p.K22N	SLC17A8_uc009ztx.2_Missense_Mutation_p.K22N	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	22	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						AAGGAGTGAAGAACGCCGTGG	0.413		NaN											0	0	0	0.003755	0	36	88				
C12orf48	55010	broad.mit.edu	37	12	102576369	102576369	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:102576369A>T	uc001tjf.2	+	9	1339	c.1227A>T	c.(1225-1227)GAA>GAT	p.E409D	C12orf48_uc001tjg.2_Missense_Mutation_p.E328D|C12orf48_uc010swa.1_Missense_Mutation_p.E486D|C12orf48_uc001tjh.2_Missense_Mutation_p.E328D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.E124D|C12orf48_uc001tjk.2_Missense_Mutation_p.E288D|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	409					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						CCCTAAGAGAACGCATCTGTG	0.264		NaN											0	0	0	0.001368	0	12	16				
HMGB1	3146	broad.mit.edu	37	13	31037474	31037474	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:31037474C>G	uc001usw.2	-	3	350	c.166G>C	c.(166-168)GAG>CAG	p.E56Q	HMGB1_uc001usz.2_Missense_Mutation_p.E56Q|HMGB1_uc001usv.2_Missense_Mutation_p.E56Q|HMGB1_uc001usx.2_Missense_Mutation_p.E56Q|HMGB1_uc001usy.2_Intron|HMGB1_uc001uta.1_Missense_Mutation_p.E56Q	NM_002128	NP_002119	P09429	HMGB1_HUMAN	high-mobility group box 1	56	HMG box 1.				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(1)	1		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TTTCCTTTCTCTTTAGCAGAC	0.333		NaN											0	0	0	0.008361	0	31	36				
IRS2	8660	broad.mit.edu	37	13	110435362	110435362	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:110435362C>T	uc001vqv.2	-	1	3553	c.3039G>A	c.(3037-3039)CCG>CCA	p.P1013P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1013					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			acggcggATACGGGGAGGAGG	0.368		NaN											0	0	0	0.004672	0	3	2				
TMEM55B	90809	broad.mit.edu	37	14	20929450	20929450	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:20929450G>A	uc001vxl.2	-	1	188	c.35C>T	c.(34-36)TCT>TTT	p.S12F	TMEM55B_uc001vxk.2_Missense_Mutation_p.S12F	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	12						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GATGGGCTCAGACAGCAGCGG	0.672		NaN											0	0	0	0.009096	0	3	4				
PRMT5	10419	broad.mit.edu	37	14	23397792	23397792	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:23397792G>T	uc001whm.1	-	2	234	c.143C>A	c.(142-144)CCG>CAG	p.P48Q	PRMT5_uc001whl.1_Missense_Mutation_p.P31Q|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Missense_Mutation_p.P31Q|PRMT5_uc010tnh.1_Missense_Mutation_p.P48Q|PRMT5_uc001whn.1_Missense_Mutation_p.P31Q	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	48					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTTGAAACGCGGATGGAAGAC	0.537		NaN											1	0	3.01185e-09	0.003954	3.10831e-09	25	78				
CPNE6	9362	broad.mit.edu	37	14	24543758	24543758	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:24543758G>C	uc001wll.2	+	6	616	c.517G>C	c.(517-519)GAC>CAC	p.D173H	CPNE6_uc010tnv.1_Missense_Mutation_p.D228H|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	173	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CAGCAAGTCTGACCCTTTCAT	0.547		NaN											0	0	0	0.003954	0	23	64				
RALGAPA1	253959	broad.mit.edu	37	14	36121033	36121033	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:36121033G>A	uc001wti.2	-	30	4527	c.4136C>T	c.(4135-4137)TCA>TTA	p.S1379L	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1379L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1392L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1426L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1379	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TTCATAAGATGAAGCCTCTGT	0.274		NaN											0	0	0	0.004656	0	25	64				
FAM179B	23116	broad.mit.edu	37	14	45478126	45478126	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:45478126C>G	uc001wvv.2	+	6	3124	c.2915C>G	c.(2914-2916)TCT>TGT	p.S972C	FAM179B_uc001wvw.2_Missense_Mutation_p.S972C|FAM179B_uc010anc.2_Intron	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	972	Ser-rich.						binding			skin(2)|upper_aerodigestive_tract(1)	3						ATGCATAGCTCTCTTAGGTCC	0.338		NaN											0	0	0	0.008871	0	21	47				
SIPA1L1	26037	broad.mit.edu	37	14	72125097	72125097	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:72125097G>A	uc001xms.2	+	6	2389	c.2041G>A	c.(2041-2043)GAA>AAA	p.E681K	SIPA1L1_uc001xmt.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E681K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E156K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	681	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGATTATGAAATTATGTT	0.348		NaN											0	0	0	0.00333	0	20	35				
LTBP2	4053	broad.mit.edu	37	14	75017811	75017811	+	Nonsense_Mutation	SNP	G	G	A	rs137854855		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:75017811G>A	uc001xqa.2	-	7	2029	c.1642C>T	c.(1642-1644)CGA>TGA	p.R548*		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	548					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCAGTCCTCGAGGCCTGGGT	0.652		NaN											0	0	0	0.003163	0	15	39				
TRIP11	9321	broad.mit.edu	37	14	92471361	92471361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:92471361G>C	uc001xzy.2	-	11	3747	c.2959C>G	c.(2959-2961)CAA>GAA	p.Q987E	TRIP11_uc010auf.1_Missense_Mutation_p.Q723E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	987	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTATCTGTTTGAATGTCCTGT	0.333		NaN	T	PDGFRB	AML								0	0	0	0.003163	0	15	36				
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:94964104G>C	uc001ydj.2	-	3	1427	c.631C>G	c.(631-633)CGA>GGA	p.R211G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.219		NaN											0	0	0	0.001855	0	14	41				
RTL1	388015	broad.mit.edu	37	14	101349412	101349412	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:101349412C>G	uc010txj.1	-	1	1773	c.1714G>C	c.(1714-1716)GAT>CAT	p.D572H	uc001yig.3_RNA|MIR127_hsa-mir-127|MI0000472_RNA|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	572										pancreas(1)	1						GTCTCATCATCTGCTTCCTTC	0.572		NaN											0	0	0	0.00308	0	7	13				
AHNAK2	113146	broad.mit.edu	37	14	105413526	105413526	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:105413526C>A	uc010axc.1	-	7	8382	c.8262G>T	c.(8260-8262)AAG>AAT	p.K2754N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K2654N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2754						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTTGGGGCCCTTAACATCTA	0.612		NaN											1	0	4.31119e-35	0.00361	4.63053e-35	100	172				
ACTC1	70	broad.mit.edu	37	15	35083368	35083368	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:35083368C>G	uc001ziu.1	-	6	1180	c.937G>C	c.(937-939)GAT>CAT	p.D313H	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	313					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCATACGATCAGCAATACCA	0.443		NaN											0	0	0	0.00361	0	77	152				
RPUSD2	27079	broad.mit.edu	37	15	40864067	40864067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:40864067G>A	uc001zmd.1	+	2	871	c.871G>A	c.(871-873)GAG>AAG	p.E291K		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	291					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGTCTCTGAGAGAATTCA	0.552		NaN											0	0	0	0.003755	0	31	81				
CTDSPL2	51496	broad.mit.edu	37	15	44778881	44778881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:44778881C>T	uc001ztr.2	+	4	874	c.458C>T	c.(457-459)TCA>TTA	p.S153L	CTDSPL2_uc001zts.2_Missense_Mutation_p.S153L|CTDSPL2_uc001ztt.2_Missense_Mutation_p.S153L|CTDSPL2_uc010bdv.2_Missense_Mutation_p.S153L	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	153							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AACTTTTTTTCACCAGCAAAT	0.289		NaN											0	0	0	0.00333	0	22	80				
BCL2L10	10017	broad.mit.edu	37	15	52402123	52402123	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:52402123C>A	uc002abq.2	-	2	586	c.537G>T	c.(535-537)TGG>TGT	p.W179C		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	169					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding				0				all cancers(107;0.0148)		GCTGTTTTCTCCAAAAAGCCA	0.438		NaN											1	0	1.63498e-16	0.00361	1.72416e-16	65	110				
TCF12	6938	broad.mit.edu	37	15	57545488	57545488	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:57545488G>C	uc002aec.2	+	15	1501	c.1217G>C	c.(1216-1218)AGA>ACA	p.R406T	TCF12_uc010ugm.1_Missense_Mutation_p.R458T|TCF12_uc010ugn.1_Missense_Mutation_p.R426T|TCF12_uc002aea.2_Missense_Mutation_p.R430T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R430T|TCF12_uc002aed.2_Missense_Mutation_p.R406T|TCF12_uc002aee.2_Missense_Mutation_p.R236T|TCF12_uc010bft.2_Missense_Mutation_p.R260T|TCF12_uc010ugo.1_Missense_Mutation_p.R170T|TCF12_uc010ugp.1_Missense_Mutation_p.R64T|TCF12_uc010ugq.1_Missense_Mutation_p.R40T|TCF12_uc010ugr.1_Missense_Mutation_p.R19T	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	406					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGTTTAGACAGACTGGATGAT	0.443		NaN	T	TEC	extraskeletal myxoid chondrosarcoma								0	0	0	0.005443	0	23	66				
CRAMP1L	57585	broad.mit.edu	37	16	1712505	1712505	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:1712505C>G	uc010uvh.1	+	11	2428	c.2428C>G	c.(2428-2430)CCA>GCA	p.P810A	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	810						nucleus	DNA binding				0						GAGAAACCCTCCAAGACCCCT	0.547		NaN											0	0	0	0.00361	0	52	98				
CREBBP	1387	broad.mit.edu	37	16	3819201	3819201	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:3819201C>T	uc002cvv.2	-	15	3238	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CREBBP_uc002cvw.2_Missense_Mutation_p.E974K	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1012					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTTTGGATTCACCAGGATCG	0.592		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.005524	0	36	57		Valid		
SEC14L5	9717	broad.mit.edu	37	16	5040888	5040888	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:5040888G>A	uc002cye.2	+	5	646	c.466G>A	c.(466-468)GTC>ATC	p.V156I		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	156	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0						CACCGCCAACGTCAAGAGGGT	0.403		NaN											0	0	0	0.009096	0	4	7				
PLK1	5347	broad.mit.edu	37	16	23690256	23690256	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:23690256G>A	uc002dlz.1	+	1	56	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		TCGGGAGCATGAGTGCTGCAG	0.682		NaN											0	0	0	0.004672	0	3	3				
TNRC6A	27327	broad.mit.edu	37	16	24800967	24800967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24800967C>T	uc002dmm.2	+	6	1118	c.1004C>T	c.(1003-1005)TCT>TTT	p.S335F	TNRC6A_uc010bxs.2_Missense_Mutation_p.S82F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S82F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S82F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S82F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	335	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Ser-rich.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GAAAGCAAATCTGAAAGTAGC	0.438		NaN											0	0	0	0.004878	0	39	49				
CCDC101	112869	broad.mit.edu	37	16	28601977	28601977	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:28601977G>C	uc002dqf.2	+	8	777	c.592G>C	c.(592-594)GAA>CAA	p.E198Q	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	198	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CATCGATGAAGAAGGCAAAGA	0.577		NaN											0	0	0	0.00361	0	77	138				
CDH11	1009	broad.mit.edu	37	16	65032529	65032529	+	Silent	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:65032529A>G	uc002eoi.2	-	4	893	c.459T>C	c.(457-459)AAT>AAC	p.N153N	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.N153N|CDH11_uc010vin.1_Silent_p.N27N|CDH11_uc010vio.1_Silent_p.N153N	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	153	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGGGTTGTCATTAATGTCCT	0.582		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.008361	0	29	55				
CDH5	1003	broad.mit.edu	37	16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:66432402G>A	uc002eom.3	+	10	1685	c.1529G>A	c.(1528-1530)CGA>CAA	p.R510Q		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	510	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATAACACCACGAAACGTGAAG	0.443		NaN											0	0	0	0.004007	0	16	35				
PARD6A	50855	broad.mit.edu	37	16	67696116	67696116	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:67696116G>A	uc002ett.2	+	3	698	c.607G>A	c.(607-609)GCT>ACT	p.A203T	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.A202T|PARD6A_uc002etu.2_Missense_Mutation_p.A27T	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	203	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGGTCTGGCTGAGAGTAC	0.597		NaN											0	0	0	0.005524	0	39	67				
NFAT5	10725	broad.mit.edu	37	16	69693744	69693744	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:69693744C>G	uc002exm.1	+	6	2465	c.1257C>G	c.(1255-1257)ATC>ATG	p.I419M	NFAT5_uc002exh.1_Missense_Mutation_p.I213M|NFAT5_uc002exi.2_Missense_Mutation_p.I343M|NFAT5_uc002exj.1_Missense_Mutation_p.I343M|NFAT5_uc002exk.1_Missense_Mutation_p.I343M|NFAT5_uc002exl.1_Missense_Mutation_p.I437M|NFAT5_uc002exn.1_Missense_Mutation_p.I437M	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	419	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGTTAATATCATGAGGAAAG	0.398		NaN											0	0	0	0.003214	0	46	61				
HYDIN	54768	broad.mit.edu	37	16	70934909	70934909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:70934909C>A	uc002ezr.2	-	53	9171	c.9043G>T	c.(9043-9045)GAG>TAG	p.E3015*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3016										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGCCTCACCTCCAACCGAATA	0.418		NaN											1	0	1.414e-09	0.003755	1.4645e-09	24	181				
C16orf7	9605	broad.mit.edu	37	16	89779125	89779125	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89779125C>T	uc002fom.1	-	5	557	c.432_splice	c.e5-1	p.K144_splice	C16orf7_uc002fol.1_Splice_Site_p.K74_splice|uc002fon.1_RNA	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7						ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGTCAGCTCTCTGGAAATGTG	0.607		NaN											0	0	0	0.004482	0	9	26				
FANCA	2175	broad.mit.edu	37	16	89845229	89845229	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89845229C>T	uc002fou.1	-	20	1848	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A	FANCA_uc010vpn.1_Silent_p.A602A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	602					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTCTATAAACGCCACACGGG	0.478		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00361	0	44	84				
FANCA	2175	broad.mit.edu	37	16	89858462	89858462	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89858462C>T	uc002fou.1	-	13	1140	c.1098G>A	c.(1096-1098)CTG>CTA	p.L366L	FANCA_uc010vpn.1_Silent_p.L366L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	366					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGCACTCAGCATCACAA	0.527		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.002299	0	21	73				
VPS53	55275	broad.mit.edu	37	17	617947	617947	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:617947C>G	uc002frn.2	-	1	150	c.3G>C	c.(1-3)ATG>ATC	p.M1I	VPS53_uc010cjo.1_Missense_Mutation_p.M1I|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.M1I|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.M1I	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	1					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCTCCTCCATCATTCCGCCAC	0.706		NaN											0	0	0	0.004289	0	35	79				
CLEC10A	10462	broad.mit.edu	37	17	6979314	6979314	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6979314G>A	uc002gek.2	-	6	813	c.510C>T	c.(508-510)CTC>CTT	p.L170L	CLEC10A_uc002gej.2_Silent_p.L143L|CLEC10A_uc002gel.2_Silent_p.L143L|CLEC10A_uc010clv.1_Silent_p.L143L	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	170	Extracellular (Potential).|Potential.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						CATTGTTGTTGAGAGTAGCCA	0.547		NaN											0	0	0	0.00632	0	27	51				
CLEC10A	10462	broad.mit.edu	37	17	6980295	6980295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6980295G>A	uc002gek.2	-	4	499	c.196C>T	c.(196-198)CAG>TAG	p.Q66*	CLEC10A_uc002gej.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc002gel.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc010clv.1_Nonsense_Mutation_p.Q66*	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	66	Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						AGGTCCCTCTGAAATTTGGAA	0.393		NaN											0	0	0	0.002096	0	32	47				
ALOX12B	242	broad.mit.edu	37	17	7984221	7984221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:7984221G>A	uc002gjy.1	-	4	769	c.508C>T	c.(508-510)CGC>TGC	p.R170C	uc010cnq.1_RNA	NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	170	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TTGGGGTTGCGATGCCTCCGC	0.652		NaN								Multiple Myeloma(8;0.094)			0	0	0	0.00361	0	59	95				
DNAH9	1770	broad.mit.edu	37	17	11607583	11607583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:11607583G>C	uc002gne.2	+	25	5283	c.5215G>C	c.(5215-5217)GAG>CAG	p.E1739Q	DNAH9_uc010coo.2_Missense_Mutation_p.E1033Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1739	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCAGGCTGGAGGAAGGCTA	0.512		NaN											0	0	0	0.006999	0	39	86				
SMCR8	140775	broad.mit.edu	37	17	18221435	18221435	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:18221435C>A	uc002gsy.3	+	1	2842	c.2332C>A	c.(2332-2334)CAG>AAG	p.Q778K		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	778										central_nervous_system(1)	1						TATGGATTTTCAGAAGTGGAA	0.522		NaN											1	0	1.38658e-30	0.00361	1.48379e-30	47	92				
PSMD11	5717	broad.mit.edu	37	17	30807212	30807212	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:30807212C>T	uc010cta.1	+	12	1163	c.1123C>T	c.(1123-1125)CAT>TAT	p.H375Y	PSMD11_uc002hhm.2_Missense_Mutation_p.H375Y	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	375	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAGAAATTTCATGGTAAGTA	0.408		NaN											0	0	0	0.00361	0	46	81				
GAS2L2	246176	broad.mit.edu	37	17	34079687	34079687	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:34079687C>T	uc002hjv.1	-	1	211	c.183G>A	c.(181-183)ACG>ACA	p.T61T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	61	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAGGCCCGTTTCCAGCA	0.627		NaN											0	0	0	0.00333	0	25	51				
ACACA	31	broad.mit.edu	37	17	35614640	35614640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:35614640C>T	uc002hnm.2	-	14	1891	c.1700G>A	c.(1699-1701)AGA>AAA	p.R567K	ACACA_uc002hnk.2_Missense_Mutation_p.R489K|ACACA_uc002hnl.2_Missense_Mutation_p.R509K|ACACA_uc002hnn.2_Missense_Mutation_p.R567K|ACACA_uc002hno.2_Missense_Mutation_p.R604K|ACACA_uc010cuz.2_Missense_Mutation_p.R567K	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	567	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCCTCTTCTCTGTTTTCTCC	0.378		NaN											0	0	0	0.007413	0	17	44				
HELZ	9931	broad.mit.edu	37	17	65104787	65104787	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:65104787G>A	uc010wqk.1	-	30	4735	c.4548C>T	c.(4546-4548)TTC>TTT	p.F1516F	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.F1515F|HELZ_uc010der.2_Silent_p.F59F	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCACTGCTGGAACCGTGCCT	0.502		NaN											0	0	0	0.004878	0	37	61				
KIAA0195	9772	broad.mit.edu	37	17	73491426	73491426	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:73491426C>T	uc002jnz.3	+	21	3065	c.2790C>T	c.(2788-2790)ATC>ATT	p.I930I	KIAA0195_uc010wsa.1_Silent_p.I940I|KIAA0195_uc010wsb.1_Silent_p.I570I|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	930					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGACCTCATCAGCTTCCAGC	0.597		NaN											0	0	0	0.007413	0	16	53				
EVPL	2125	broad.mit.edu	37	17	74005847	74005847	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:74005847C>T	uc002jqi.2	-	22	3667	c.3439G>A	c.(3439-3441)GGG>AGG	p.G1147R	EVPL_uc010wss.1_Missense_Mutation_p.G1169R|EVPL_uc010wst.1_Missense_Mutation_p.G617R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1147	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGGAGGAGCCCTGGGTCCTGC	0.632		NaN											0	0	0	0.004878	0	30	55				
NDC80	10403	broad.mit.edu	37	18	2608705	2608705	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:2608705G>C	uc002kli.2	+	15	1746	c.1564G>C	c.(1564-1566)GAG>CAG	p.E522Q		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	522	Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						ATAGGAAGCAGAGGAAGAGGA	0.388		NaN											0	0	0	0.005443	0	24	40				
CEP192	55125	broad.mit.edu	37	18	13068356	13068356	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:13068356A>G	uc010xac.1	+	24	4839	c.4759_splice	c.e24-2	p.D1587_splice	CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.D1112_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krv.2_Splice_Site_p.D9_splice|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa											ovary(4)|pancreas(1)	5						TTAATTTTATAGGATCCAGAA	0.294		NaN											0	0	0	0.006122	0	18	27				
KIAA1012	22878	broad.mit.edu	37	18	29437531	29437531	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:29437531C>T	uc002kxc.3	-	20	3524	c.3160G>A	c.(3160-3162)GAA>AAA	p.E1054K	KIAA1012_uc002kxb.3_Missense_Mutation_p.E1000K|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1054					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						TTGACACTTTCATAGTAAAAC	0.348		NaN											0	0	0	0.007413	0	18	37				
SMAD2	4087	broad.mit.edu	37	18	45372078	45372078	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:45372078T>G	uc002lcy.2	-	9	1339	c.1091A>C	c.(1090-1092)CAG>CCG	p.Q364P	SMAD2_uc002lcz.2_Missense_Mutation_p.Q364P|SMAD2_uc010xdc.1_Missense_Mutation_p.Q334P|SMAD2_uc010xdd.1_Missense_Mutation_p.Q334P	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	364	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						GCCATATCTCTGATTACAATT	0.418		NaN											0	0	0	0.007835	0	42	52				
MYO5B	4645	broad.mit.edu	37	18	47379927	47379927	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:47379927C>T	uc002leb.2	-	31	4401	c.4113G>A	c.(4111-4113)GAG>GAA	p.E1371E	MYO5B_uc002lea.2_Silent_p.E486E	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1371	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GTTTGTCCATCTCCTCCTTCA	0.617		NaN											0	0	0	0.002299	0	21	51				
PIGN	23556	broad.mit.edu	37	18	59824982	59824982	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:59824982G>T	uc002lii.3	-	5	729	c.281C>A	c.(280-282)TCT>TAT	p.S94Y	PIGN_uc002lij.3_Missense_Mutation_p.S94Y	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	94	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				ACCTGGCCGAGATTCTGTTGG	0.378		NaN											1	0	0.000602214	0.000602	0.000606396	5	20				
SERPINB4	6318	broad.mit.edu	37	18	61328322	61328322	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:61328322T>A	uc002ljg.2	-	1	155	c.129A>T	c.(127-129)TTA>TTT	p.L43F	SERPINB3_uc002lji.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqa.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqb.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqc.2_Missense_Mutation_p.L43F			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	43					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						CTTTGGCTCCTAAGAGGACCA	0.438		NaN											0	0	0	0.00361	0	40	100				
ZNF236	7776	broad.mit.edu	37	18	74616410	74616411	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:74616410_74616411AG>GA	uc002lmi.2	+	12	2161_2162	c.1963_1964AG>GA	c.(1963-1965)AGA>GAA	p.R655E	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGCAGATAGACCATACAAG	0.347		NaN											0	0	0	0.004672	0	18	23				
PTPRS	5802	broad.mit.edu	37	19	5222225	5222225	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:5222225G>A	uc002mbv.2	-	19	3344	c.3110C>T	c.(3109-3111)CCC>CTC	p.P1037L	PTPRS_uc002mbu.1_Missense_Mutation_p.P606L|PTPRS_uc010xin.1_Missense_Mutation_p.P606L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1015L|PTPRS_uc002mbx.2_Missense_Mutation_p.P610L|PTPRS_uc002mby.2_Missense_Mutation_p.P606L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1037	Extracellular (Potential).|Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAAGTTCTTGGGCGAGACTGC	0.607		NaN											0	0	0	0.004672	0	3	39				
AP1M2	10053	broad.mit.edu	37	19	10689595	10689595	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:10689595G>C	uc002mpc.2	-	8	945	c.861C>G	c.(859-861)TCC>TCG	p.S287S	AP1M2_uc002mpd.2_Silent_p.S289S	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	287	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGCGGCTGTGGGAGAACTTCT	0.418		NaN											0	0	0	0.004672	0	3	18				
SMARCA4	6597	broad.mit.edu	37	19	11168977	11168977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:11168977C>T	uc002mqf.3	+	31	4755	c.4471C>T	c.(4471-4473)CGA>TGA	p.R1491*	SMARCA4_uc010dxp.2_Nonsense_Mutation_p.R1491*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.R1523*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.R1458*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.R1457*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.R1461*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.R1460*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.R581*	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1491	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCCCTCGCGAAAGGAGCT	0.637		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.001368	0	13	28		Valid		
FKBP8	23770	broad.mit.edu	37	19	18650429	18650429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650429C>G	uc002njk.1	-	3	507	c.394G>C	c.(394-396)GAG>CAG	p.E132Q	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.E161Q|FKBP8_uc002njj.1_Missense_Mutation_p.E132Q|FKBP8_uc002njl.1_Missense_Mutation_p.E132Q|FKBP8_uc002njm.1_Missense_Mutation_p.E132Q|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	132	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						GTGCCATTCTCCAGCGACGTC	0.667		NaN											0	0	0	0.00361	0	71	83				
FKBP8	23770	broad.mit.edu	37	19	18650529	18650529	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650529C>T	uc002njk.1	-	3	407	c.294G>A	c.(292-294)GGG>GGA	p.G98G	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Silent_p.G127G|FKBP8_uc002njj.1_Silent_p.G98G|FKBP8_uc002njl.1_Silent_p.G98G|FKBP8_uc002njm.1_Silent_p.G98G|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	98					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						ACAGCCCGTTCCCTGCCAGGG	0.662		NaN											0	0	0	0.00361	0	66	84				
SFRS14	10147	broad.mit.edu	37	19	19136463	19136463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:19136463G>A	uc002nkx.2	-	3	840	c.694C>T	c.(694-696)CAG>TAG	p.Q232*	SFRS14_uc002nkz.1_Nonsense_Mutation_p.Q246*|SFRS14_uc002nla.1_Nonsense_Mutation_p.Q232*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.Q232*|SFRS14_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	232					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			AGCAGGCCCTGAGTCTCCCCC	0.522		NaN											0	0	0	0.004878	0	36	37				
ZNF682	91120	broad.mit.edu	37	19	20118011	20118011	+	Silent	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:20118011C>A	uc002noq.2	-	4	423	c.300G>T	c.(298-300)CTG>CTT	p.L100L	ZNF682_uc002noo.2_Silent_p.L68L|ZNF682_uc002nop.2_Silent_p.L68L|ZNF682_uc010eck.2_Silent_p.L24L	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CATATCTTCTCAGTATCACTT	0.358		NaN											1	0	7.48243e-07	0.006214	7.64051e-07	9	5				
ANKRD27	84079	broad.mit.edu	37	19	33096819	33096819	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:33096819C>G	uc002ntn.1	-	24	2571	c.2415G>C	c.(2413-2415)AAG>AAC	p.K805N		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	805	ANK 9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					TGAGGTCCTTCTTATTGGGTT	0.512		NaN											0	0	0	0.00874	0	41	40				
GPI	2821	broad.mit.edu	37	19	34868692	34868692	+	Missense_Mutation	SNP	G	G	A	rs148548669		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:34868692G>A	uc002nvg.1	+	6	642	c.539G>A	c.(538-540)CGC>CAC	p.R180H	GPI_uc002nvf.2_Missense_Mutation_p.R219H|GPI_uc010xrv.1_Missense_Mutation_p.R191H|GPI_uc010xrw.1_Missense_Mutation_p.R152H|GPI_uc010edl.1_Missense_Mutation_p.R180H	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	180					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GGAGGTCCCCGCGTCTGGTAT	0.532		NaN											0	0	0	0.005524	0	34	53				
LRFN1	57622	broad.mit.edu	37	19	39798949	39798949	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39798949G>C	uc002okw.2	-	2	1640	c.1640C>G	c.(1639-1641)TCG>TGG	p.S547W		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	547	Helical; (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACGAGGACCGAGGCGACGAT	0.667		NaN											0	0	0	0.008291	0	11	34				
LRFN1	57622	broad.mit.edu	37	19	39804928	39804928	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39804928C>T	uc002okw.2	-	1	1049	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	350	Ig-like.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGTCCCCCCGGACCCGGGT	0.692		NaN											0	0	0	0.001984	0	7	16				
PSG1	5669	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:43372352G>A	uc002ovb.2	-	5	1282	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.R382C|PSG1_uc010eio.1_Missense_Mutation_p.R382C|PSG1_uc002oux.1_Missense_Mutation_p.R311C|PSG1_uc002ouy.1_Missense_Mutation_p.R289C|PSG1_uc002ouz.1_Missense_Mutation_p.R382C|PSG1_uc002ova.1_Missense_Mutation_p.R289C|PSG1_uc002ovc.2_Missense_Mutation_p.R289C|PSG1_uc002ovd.1_Missense_Mutation_p.R382C	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	382	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463		NaN											0	0	0	0.00361	0	87	198				
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:44680638C>G	uc002oyp.2	+	6	1367	c.1223C>G	c.(1222-1224)TCC>TGC	p.S408C	ZNF226_uc002oyq.2_Missense_Mutation_p.S291C|ZNF226_uc002oyr.2_Missense_Mutation_p.S291C|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S408C|ZNF226_uc002oyt.2_Missense_Mutation_p.S408C	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	408	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443		NaN											0	0	0	0.00278	0	24	33				
APOC1	341	broad.mit.edu	37	19	45418151	45418151	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:45418151G>A	uc002pac.1	+	3	255	c.3G>A	c.(1-3)ATG>ATA	p.M1I	APOC1_uc002pad.1_Missense_Mutation_p.M1I|APOC1_uc002pae.1_Missense_Mutation_p.M1I|APOC1_uc002paf.1_5'Flank	NM_001645	NP_001636	P02654	APOC1_HUMAN	apolipoprotein C-I precursor	1					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GCCTCGCCATGAGGCTCTTCC	0.607		NaN											0	0	0	0.000978	0	10	29				
GLTSCR1	29998	broad.mit.edu	37	19	48204667	48204667	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:48204667C>T	uc002phh.3	+	15	3872	c.3678C>T	c.(3676-3678)CCC>CCT	p.P1226P	GLTSCR1_uc002phi.3_Silent_p.P984P	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1226							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCACGGCCCCCTGTCGTCTT	0.692		NaN											0	0	0	0.001168	0	6	11				
LRRC4B	94030	broad.mit.edu	37	19	51021654	51021654	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51021654G>A	uc002pss.2	-	3	1453	c.1316C>T	c.(1315-1317)ACG>ATG	p.T439M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	439	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCTGAGTTCGTCACCATGCA	0.517		NaN											0	0	0	0.002445	0	29	48				
KLK15	55554	broad.mit.edu	37	19	51329142	51329142	+	Silent	SNP	G	G	A	rs137922291		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51329142G>A	uc002ptl.2	-	5	712	c.681C>T	c.(679-681)GAC>GAT	p.D227D	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Silent_p.D142D|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Silent_p.D226D|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CACAAGGGACGTCACCCCAGG	0.557		NaN											0	0	0	0.00499	0	16	28				
CNOT3	4849	broad.mit.edu	37	19	54647809	54647809	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:54647809G>T	uc002qdj.1	+	6	637	c.326G>T	c.(325-327)GGC>GTC	p.G109V	CNOT3_uc010yel.1_Missense_Mutation_p.G109V|CNOT3_uc002qdi.2_Missense_Mutation_p.G22V|CNOT3_uc002qdk.1_Missense_Mutation_p.G109V|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	109					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGGGCCTGGGCCTGGCCCAG	0.547		NaN											1	0	2.37509e-13	0.010504	2.48656e-13	22	55				
TNNT1	7138	broad.mit.edu	37	19	55649415	55649415	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:55649415C>T	uc002qjb.3	-	10	504	c.415G>A	c.(415-417)GAG>AAG	p.E139K	TNNT1_uc002qiz.3_Missense_Mutation_p.E69K|TNNT1_uc002qja.3_Missense_Mutation_p.E69K|TNNT1_uc002qjc.3_Missense_Mutation_p.E139K|TNNT1_uc002qje.3_Missense_Mutation_p.E128K|TNNT1_uc002qjd.3_Missense_Mutation_p.E128K|TNNT1_uc002qjf.2_Missense_Mutation_p.E135K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	139					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TTCTTGGCCTCTTCCTCTTCC	0.567		NaN											0	0	0	0.00361	0	43	79				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.004672	0.004672	0.00468817	3	16				
DDX1	1653	broad.mit.edu	37	2	15753407	15753407	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:15753407G>C	uc002rce.2	+	14	1304	c.1016G>C	c.(1015-1017)GGA>GCA	p.G339A	DDX1_uc010yjq.1_Missense_Mutation_p.G247A	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	339	Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTGGAAAATGGAGTAAGTTGT	0.323		NaN											0	0	0	0.004482	0	8	28				
ITSN2	50618	broad.mit.edu	37	2	24522785	24522785	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522785C>G	uc002rfe.2	-	12	1595	c.1337G>C	c.(1336-1338)AGA>ACA	p.R446T	ITSN2_uc002rff.2_Missense_Mutation_p.R446T|ITSN2_uc002rfg.2_Missense_Mutation_p.R446T|ITSN2_uc010eyd.2_Missense_Mutation_p.R471T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	446	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCTCTCGTCTTTCTATGTC	0.289		NaN											0	0	0	0.003163	0	14	60				
ITSN2	50618	broad.mit.edu	37	2	24522905	24522905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522905C>T	uc002rfe.2	-	12	1475	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q	ITSN2_uc002rff.2_Missense_Mutation_p.R406Q|ITSN2_uc002rfg.2_Missense_Mutation_p.R406Q|ITSN2_uc010eyd.2_Missense_Mutation_p.R431Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	406	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTGTTTTCGTTCCCACTC	0.453		NaN											0	0	0	0.002445	0	30	114				
ITSN2	50618	broad.mit.edu	37	2	24522915	24522915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522915C>T	uc002rfe.2	-	12	1465	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	ITSN2_uc002rff.2_Missense_Mutation_p.E403K|ITSN2_uc002rfg.2_Missense_Mutation_p.E403K|ITSN2_uc010eyd.2_Missense_Mutation_p.E428K	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	403	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTCCCACTCTTCCTTTTCT	0.453		NaN											0	0	0	0.004878	0	32	118				
ITSN2	50618	broad.mit.edu	37	2	24523032	24523032	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24523032C>G	uc002rfe.2	-	12	1348	c.1090G>C	c.(1090-1092)GAG>CAG	p.E364Q	ITSN2_uc002rff.2_Missense_Mutation_p.E364Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E364Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E389Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	364	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTTGTCCTCAAAAGTAACT	0.448		NaN											0	0	0	0.00874	0	39	55				
NCOA1	8648	broad.mit.edu	37	2	24930608	24930608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24930608G>T	uc002rfk.2	+	11	2527	c.2269G>T	c.(2269-2271)GAG>TAG	p.E757*	NCOA1_uc010eye.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.E606*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.E757*	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	757									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATAAAGATGAGAAAGATTT	0.378		NaN	T	PAX3	alveolar rhadomyosarcoma								1	0	6.42651e-13	0.000978	6.70392e-13	12	25				
GCKR	2646	broad.mit.edu	37	2	27746223	27746223	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746223G>C	uc002rky.2	+	19	1861	c.1795G>C	c.(1795-1797)GAG>CAG	p.E599Q	GCKR_uc010ezd.2_Missense_Mutation_p.E597Q|GCKR_uc010ylu.1_Missense_Mutation_p.E409Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	599					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597		NaN											0	0	0	0.006214	0	10	37				
GCKR	2646	broad.mit.edu	37	2	27746258	27746258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746258G>C	uc002rky.2	+	19	1896	c.1830G>C	c.(1828-1830)CAG>CAC	p.Q610H	GCKR_uc010ezd.2_Missense_Mutation_p.Q608H|GCKR_uc010ylu.1_Missense_Mutation_p.Q420H	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	610					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					GGCCAGGTCAGAAGCGCACTG	0.612		NaN											0	0	0	0.001368	0	13	54				
SUPT7L	9913	broad.mit.edu	37	2	27884012	27884012	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27884012C>T	uc002rlh.1	-	3	601	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	SUPT7L_uc002rli.1_Silent_p.Q86Q|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Silent_p.Q84Q|SUPT7L_uc010ezh.1_Silent_p.Q84Q|SLC4A1AP_uc002rlk.3_5'Flank	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	86					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCTGCTGATTCTGGGCCTGAG	0.517		NaN											0	0	0	0.003163	0	16	47				
CAPN13	92291	broad.mit.edu	37	2	30965216	30965216	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:30965216G>A	uc002rnn.2	-	13	1631	c.1455C>T	c.(1453-1455)AGC>AGT	p.S485S	CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Silent_p.S39S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	485					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGAAATGGCTGCTCAGGTGCC	0.532		NaN											0	0	0	0.000602	0	5	8				
VPS54	51542	broad.mit.edu	37	2	64141357	64141357	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:64141357C>G	uc002scq.2	-	17	2456	c.2293G>C	c.(2293-2295)GTT>CTT	p.V765L	VPS54_uc002scp.2_Missense_Mutation_p.V753L|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.V250L|VPS54_uc010fct.2_Missense_Mutation_p.V612L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	765					protein transport|retrograde transport, endosome to Golgi						0						TCAGTAGTAACAGATGGGATG	0.348		NaN											0	0	0	0.002836	0	31	48				
REG1B	5968	broad.mit.edu	37	2	79312402	79312402	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:79312402C>G	uc002sny.2	-	6	553	c.441G>C	c.(439-441)AAG>AAC	p.K147N		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	147	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						CCTTCCATTTCTTGAATCCTA	0.403		NaN											0	0	0	0.006214	0	9	18				
MRPS5	64969	broad.mit.edu	37	2	95766234	95766234	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:95766234T>A	uc002sub.2	-	10	1134	c.916A>T	c.(916-918)AAG>TAG	p.K306*	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	306					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						GGTTGTTTCTTCATCTTGATA	0.323		NaN											0	0	0	0.006122	0	17	39				
LCT	3938	broad.mit.edu	37	2	136562346	136562346	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:136562346G>T	uc002tuu.1	-	10	4466	c.4455C>A	c.(4453-4455)ATC>ATA	p.I1485I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1485	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGGCTGGATGCTGGCGG	0.562		NaN											1	0	4.96729e-08	0.008871	5.09016e-08	18	41				
NEB	4703	broad.mit.edu	37	2	152553231	152553231	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:152553231G>C	uc010fnx.2	-	17	1680	c.1489C>G	c.(1489-1491)CCA>GCA	p.P497A	NEB_uc010fny.1_Missense_Mutation_p.P51A	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	497					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTATCTGGATGGACTTTG	0.458		NaN											0	0	0	0.006214	0	10	26				
KBTBD10	10324	broad.mit.edu	37	2	170371102	170371102	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:170371102G>A	uc002ueu.1	+	2	1206	c.1129G>A	c.(1129-1131)GAA>AAA	p.E377K	KBTBD10_uc010zdh.1_Missense_Mutation_p.E315K	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	377	Kelch 1.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CATAGCATCTGAATGGGTTGG	0.398		NaN											0	0	0	0.004656	0	24	33				
NFE2L2	4780	broad.mit.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098799T>A	uc002ulh.3	-	2	801	c.246A>T	c.(244-246)GAA>GAT	p.E82D	NFE2L2_uc002ulg.3_Missense_Mutation_p.E66D|NFE2L2_uc010zfa.1_Missense_Mutation_p.E66D|NFE2L2_uc002uli.3_Missense_Mutation_p.E66D|NFE2L2_uc010fra.2_Missense_Mutation_p.E66D|NFE2L2_uc010frb.2_Missense_Mutation_p.E66D	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	82					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.010504	0	20	33		Valid		
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098810C>G	uc002ulh.3	-	2	790	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.004007	0	16	34		Valid		
DUSP28	285193	broad.mit.edu	37	2	241500413	241500413	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:241500413G>C	uc002vzg.2	+	1	943	c.312G>C	c.(310-312)AAG>AAC	p.K104N	ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.K104N	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	104	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TCTACTGCAAGAACGGCCGCA	0.741		NaN											0	0	0	0.009096	0	4	12				
KCNS1	3787	broad.mit.edu	37	20	43723922	43723922	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:43723922G>A	uc002xnc.2	-	5	1567	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	KCNS1_uc002xnd.2_Silent_p.F390F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	390	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CCACACCAGAGAACACTGACA	0.567		NaN											0	0	0	0.00245	0	14	40				
C20orf43	51507	broad.mit.edu	37	20	55088466	55088466	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55088466G>A	uc002xxt.2	+	6	680	c.573G>A	c.(571-573)CTG>CTA	p.L191L	C20orf43_uc010zzf.1_Silent_p.L221L|C20orf43_uc002xxu.2_Silent_p.L191L|C20orf43_uc002xxv.2_Silent_p.L191L|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	191										ovary(1)	1			Colorectal(105;0.202)			AGAGAAGGCTGAGAGCGAAGC	0.562		NaN											0	0	0	0.004672	0	3	14				
TFAP2C	7022	broad.mit.edu	37	20	55206428	55206428	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55206428G>A	uc002xya.2	+	2	459	c.216G>A	c.(214-216)TCG>TCA	p.S72S	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	72	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			ACTCCCAGTCGGCCGACCCCT	0.701		NaN											0	0	0	0.003163	0	15	34				
NPEPL1	79716	broad.mit.edu	37	20	57268967	57268967	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:57268967C>G	uc010zzs.1	+	2	420	c.325C>G	c.(325-327)CGC>GGC	p.R109G	NPEPL1_uc010zzr.1_Missense_Mutation_p.R61G|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R81G|NPEPL1_uc002xzp.2_Translation_Start_Site	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	109					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGGAGCGCATCGCTGCATTGT	0.701		NaN											0	0	0	0.00308	0	8	17				
HRH3	11255	broad.mit.edu	37	20	60794805	60794805	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:60794805G>C	uc002ycf.2	-	1	519	c.222C>G	c.(220-222)CTC>CTG	p.L74L	HRH3_uc002ycg.2_Silent_p.L74L|HRH3_uc002ych.2_Silent_p.L74L|HRH3_uc002yci.2_Silent_p.L74L	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	74	Helical; Name=2; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGGCGAGGTTGAGCAGGAAGA	0.682		NaN											0	0	0	0.001882	0	18	46				
PRDM15	63977	broad.mit.edu	37	21	43298877	43298877	+	Missense_Mutation	SNP	G	G	A	rs75817094		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr21:43298877G>A	uc002yzq.1	-	3	451	c.340C>T	c.(340-342)CGG>TGG	p.R114W	PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTGTACCCGAGGGCGGGGG	0.493		NaN											0	0	0	0.001855	0	12	6				
SLC25A18	83733	broad.mit.edu	37	22	18070755	18070755	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:18070755G>A	uc002zmp.1	+	9	1134	c.640G>A	c.(640-642)GAG>AAG	p.E214K	SLC25A18_uc010gqx.2_Missense_Mutation_p.E214K|SLC25A18_uc002zmq.1_Missense_Mutation_p.E214K	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	214						integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGGGTTCAACGAGCTCGCCGG	0.532		NaN											0	0	0	0.007835	0	42	69				
CHEK2	11200	broad.mit.edu	37	22	29091193	29091193	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091193G>C	uc003adu.1	-	12	1369	c.1297C>G	c.(1297-1299)CAA>GAA	p.Q433E	CHEK2_uc003ads.1_Missense_Mutation_p.Q212E|CHEK2_uc010gvh.1_Missense_Mutation_p.Q342E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Q476E|CHEK2_uc003adv.1_Missense_Mutation_p.Q404E|CHEK2_uc003adw.1_Missense_Mutation_p.Q433E|CHEK2_uc003adx.1_Missense_Mutation_p.Q212E|CHEK2_uc003ady.1_Missense_Mutation_p.Q422E|CHEK2_uc003adz.1_Missense_Mutation_p.Q237E	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	433	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						AGTGACACTTGAGTCCTATGC	0.413		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.000978	0	11	28				
CHEK2	11200	broad.mit.edu	37	22	29091207	29091207	+	Missense_Mutation	SNP	G	G	A	rs137853011	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091207G>A	uc003adu.1	-	12	1355	c.1283C>T	c.(1282-1284)TCT>TTT	p.S428F	CHEK2_uc003ads.1_Missense_Mutation_p.S207F|CHEK2_uc010gvh.1_Missense_Mutation_p.S337F|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.S471F|CHEK2_uc003adv.1_Missense_Mutation_p.S399F|CHEK2_uc003adw.1_Missense_Mutation_p.S428F|CHEK2_uc003adx.1_Missense_Mutation_p.S207F|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Missense_Mutation_p.S232F	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	428	Protein kinase.		S -> F (increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCTATGCTCAGAGAAAGGTGG	0.398		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.000978	0	11	29				
EP300	2033	broad.mit.edu	37	22	41556722	41556722	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:41556722C>G	uc003azl.3	+	20	4062	c.3667C>G	c.(3667-3669)CAA>GAA	p.Q1223E		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1223					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTCCCAGCCTCAAACGTAAGT	0.388		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.005443	0	26	41				
BRD1	23774	broad.mit.edu	37	22	50216812	50216812	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50216812C>T	uc003biv.2	-	1	1641	c.1154G>A	c.(1153-1155)TGT>TAT	p.C385Y	BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Missense_Mutation_p.C385Y|BRD1_uc011arh.1_Missense_Mutation_p.C385Y|BRD1_uc003biu.3_Missense_Mutation_p.C385Y	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	385					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGACATCACAGTAAGCGGT	0.542		NaN											0	0	0	0.00361	0	66	112				
TTLL8	164714	broad.mit.edu	37	22	50470355	50470355	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50470355G>A	uc011ark.1	-	11	1467	c.1467C>T	c.(1465-1467)CAC>CAT	p.H489H		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CCTTCATGGCGTGGGCGATGG	0.642		NaN											0	0	0	0.00278	0	25	36				
PLXNB2	23654	broad.mit.edu	37	22	50717351	50717351	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50717351C>T	uc003bkv.3	-	28	4585	c.4479G>A	c.(4477-4479)AAG>AAA	p.K1493K	PLXNB2_uc003bkt.1_Silent_p.K285K|PLXNB2_uc003bku.1_Silent_p.K478K	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1493	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAATGATCTTCTCCTTGA	0.642		NaN											0	0	0	0.001368	0	11	31				
MLH1	4292	broad.mit.edu	37	3	37056007	37056007	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:37056007G>C	uc003cgl.2	+	9	822	c.762G>C	c.(760-762)AAG>AAC	p.K254N	MLH1_uc011aye.1_Missense_Mutation_p.K13N|MLH1_uc011ayb.1_Missense_Mutation_p.K13N|MLH1_uc010hge.2_Missense_Mutation_p.K254N|MLH1_uc003cgn.3_Missense_Mutation_p.K13N|MLH1_uc011ayc.1_Missense_Mutation_p.K156N|MLH1_uc011ayd.1_Missense_Mutation_p.K13N|MLH1_uc003cgo.2_Missense_Mutation_p.K13N|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	254			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						ACTCAGTGAAGAAGTGCATCT	0.383		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.006122	0	17	21				
COL7A1	1294	broad.mit.edu	37	3	48622525	48622525	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622525G>C	uc003ctz.2	-	32	3920	c.3919C>G	c.(3919-3921)CCA>GCA	p.P1307A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1307	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGCCTGGACGCCCATCT	0.682		NaN											0	0	0	0.006122	0	16	41				
COL7A1	1294	broad.mit.edu	37	3	48622544	48622544	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622544G>A	uc003ctz.2	-	32	3901	c.3900C>T	c.(3898-3900)TTC>TTT	p.F1300F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1300	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCTCCAGGGAAGCCCTGAG	0.667		NaN											0	0	0	0.000978	0	12	37				
PPM1M	132160	broad.mit.edu	37	3	52282393	52282393	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:52282393C>G	uc003ddf.3	+	6	720	c.355C>G	c.(355-357)CTG>GTG	p.L119V	PPM1M_uc011bed.1_Missense_Mutation_p.L280V|PPM1M_uc010hmd.2_Missense_Mutation_p.L119V|PPM1M_uc003ddg.3_Missense_Mutation_p.L68V|PPM1M_uc003ddh.3_5'Flank			Q96MI6	PPM1M_HUMAN	RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;	119	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding				0				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTTCACCCGACTGGAGTTCCC	0.592		NaN											0	0	0	0.004482	0	9	23				
C3orf63	23272	broad.mit.edu	37	3	56680888	56680888	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:56680888T>C	uc003did.3	-	14	1978	c.1877A>G	c.(1876-1878)AAT>AGT	p.N626S	C3orf63_uc003dic.3_Missense_Mutation_p.N230S|C3orf63_uc003die.3_Missense_Mutation_p.N626S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	626										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AAGTTTTCTATTTTCTTCAAA	0.299		NaN											0	0	0	0.004482	0	9	25				
PDE12	201626	broad.mit.edu	37	3	57543222	57543222	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57543222G>A	uc003diw.3	+	1	1242	c.1116G>A	c.(1114-1116)GGG>GGA	p.G372G	PDE12_uc003div.2_Silent_p.G372G	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	372							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGCTCGAGGGGGTGTTTCGAA	0.547		NaN											0	0	0	0.008291	0	11	42				
FAM116A	201627	broad.mit.edu	37	3	57619051	57619051	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57619051G>C	uc003dja.2	-	15	1365	c.1294C>G	c.(1294-1296)CAA>GAA	p.Q432E		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	432										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		ATAACACTTTGAGCCTCAGAA	0.303		NaN											0	0	0	0.003163	0	14	33				
PSMD6	9861	broad.mit.edu	37	3	64009039	64009039	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:64009039G>C	uc003dma.1	-	1	82	c.57C>G	c.(55-57)ATC>ATG	p.I19M	PSMD6_uc003dlz.1_Translation_Start_Site|PSMD6_uc003dmb.1_Missense_Mutation_p.I19M|PSMD6_uc003dmc.1_Intron|PSMD6_uc003dmd.1_Intron	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCAGCTGCGCGATACGCAAGT	0.672		NaN											0	0	0	0.001368	0	12	17				
IQCB1	9657	broad.mit.edu	37	3	121491473	121491473	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:121491473C>G	uc010hre.1	-	14	1713	c.1498G>C	c.(1498-1500)GAA>CAA	p.E500Q	IQCB1_uc003eek.2_Missense_Mutation_p.E367Q|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	500					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		GCTCGCTCTTCTAGGGCCCTG	0.498		NaN											0	0	0	0.009718	0	41	84				
DIRC2	84925	broad.mit.edu	37	3	122598123	122598123	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:122598123C>T	uc003efw.3	+	9	1474	c.1335C>T	c.(1333-1335)TTC>TTT	p.F445F	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.F283F|uc003efx.1_RNA	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	445	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		TGTCTTGGTTCAACTGGTGCC	0.463		NaN											0	0	0	0.00361	0	103	189				
IFT122	55764	broad.mit.edu	37	3	129185821	129185821	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:129185821C>G	uc003emm.2	+	8	858	c.652C>G	c.(652-654)CTG>GTG	p.L218V	IFT122_uc003eml.2_Missense_Mutation_p.L269V|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Missense_Mutation_p.L68V|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	218					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CCCTTCCACTCTGAAGTCAGC	0.498		NaN											0	0	0	0.002836	0	33	64				
DNAJC13	23317	broad.mit.edu	37	3	132182552	132182552	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:132182552G>C	uc003eor.2	+	17	1848	c.1783G>C	c.(1783-1785)GAA>CAA	p.E595Q	DNAJC13_uc010htq.1_Missense_Mutation_p.E595Q	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	595							heat shock protein binding			ovary(1)|breast(1)	2						AGGTGATAAAGAAATTGCTAC	0.383		NaN											0	0	0	0.004656	0	24	42				
XRN1	54464	broad.mit.edu	37	3	142144273	142144273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:142144273C>T	uc003eus.2	-	4	581	c.514G>A	c.(514-516)GAG>AAG	p.E172K	XRN1_uc003eut.2_Missense_Mutation_p.E172K|XRN1_uc003euu.2_Missense_Mutation_p.E172K|XRN1_uc003euv.1_Missense_Mutation_p.E33K|XRN1_uc003euw.2_Missense_Mutation_p.E172K|XRN1_uc011bnh.1_Intron	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	172					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						ATAATAACCTCATGGCCTGAG	0.279		NaN											0	0	0	0.00499	0	17	6				
KLHL24	54800	broad.mit.edu	37	3	183368537	183368537	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:183368537C>T	uc003flv.2	+	3	688	c.393C>T	c.(391-393)ATC>ATT	p.I131I	KLHL24_uc003flw.2_Silent_p.I131I|KLHL24_uc003flx.2_Silent_p.I131I	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	131	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGTGAAGATCACTACAGAGA	0.408		NaN											0	0	0	0.001984	0	6	137				
C3orf43	255798	broad.mit.edu	37	3	196236536	196236536	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:196236536C>G	uc003fws.2	-	2	212	c.55G>C	c.(55-57)GAC>CAC	p.D19H	C3orf43_uc003fwr.2_Missense_Mutation_p.D11H	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	19	Potential.					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		AGTTTGTGGTCTACTCTGTAG	0.373		NaN											0	0	0	0.00361	0	46	86				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.001368	0	11	19		Valid		
EVC	2121	broad.mit.edu	37	4	5754566	5754566	+	Missense_Mutation	SNP	G	G	A	rs145645536		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:5754566G>A	uc003gil.1	+	9	1286	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	368					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TTTGCAGGACGCCCTGGAGAG	0.557		NaN											0	0	0	0.006999	0	39	64				
ADAMTS3	9508	broad.mit.edu	37	4	73185578	73185578	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:73185578T>C	uc003hgk.1	-	8	1242	c.1205A>G	c.(1204-1206)CAT>CGT	p.H402R		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	402	Peptidase M12B.	Zinc; catalytic (By similarity).			collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTTACACATGGCCCGTTTC	0.448		NaN											0	0	0	0.006122	0	18	26				
AFF1	4299	broad.mit.edu	37	4	88053553	88053553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:88053553A>G	uc003hqj.3	+	18	3690	c.3283A>G	c.(3283-3285)ATT>GTT	p.I1095V	AFF1_uc011ccz.1_Missense_Mutation_p.I1102V|AFF1_uc003hqk.3_Missense_Mutation_p.I1095V|AFF1_uc011cda.1_Missense_Mutation_p.I733V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1095						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCTCCATGCATTGCAAGGTA	0.343		NaN											0	0	0	0.006122	0	17	25				
DDIT4L	115265	broad.mit.edu	37	4	101109268	101109268	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:101109268C>T	uc003hvq.2	-	3	351	c.148G>A	c.(148-150)GAG>AAG	p.E50K		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	50					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTTGATTCCTCAAATATTACC	0.368		NaN											0	0	0	0.009718	0	45	72				
PCDH10	57575	broad.mit.edu	37	4	134072260	134072260	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:134072260C>G	uc003iha.2	+	1	1791	c.965C>G	c.(964-966)CCA>CGA	p.P322R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P322R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	322	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGAGAGCCCAGTGTACCAA	0.612		NaN											0	0	0	0.002852	0	41	78				
TLR2	7097	broad.mit.edu	37	4	154625251	154625251	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:154625251C>G	uc003inq.2	+	3	1411	c.1192C>G	c.(1192-1194)CAT>GAT	p.H398D	TLR2_uc003inr.2_Missense_Mutation_p.H398D|TLR2_uc003ins.2_Missense_Mutation_p.H398D	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	398	LRR 9.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				AAGGCAAAATCATTTGGCATC	0.363		NaN											0	0	0	0.007413	0	19	47				
MARCH6	10299	broad.mit.edu	37	5	10402684	10402684	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:10402684C>G	uc003jet.1	+	14	1345	c.1162C>G	c.(1162-1164)CTC>GTC	p.L388V	MARCH6_uc011cmu.1_Missense_Mutation_p.L340V|MARCH6_uc003jeu.1_Missense_Mutation_p.L86V|MARCH6_uc011cmv.1_Missense_Mutation_p.L283V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	388	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						AGTATTCCCTCTCATTTGTGG	0.358		NaN											0	0	0	0.00361	0	86	183				
FAM151B	167555	broad.mit.edu	37	5	79797732	79797732	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:79797732G>C	uc003kgv.1	+	2	290	c.147G>C	c.(145-147)CTG>CTC	p.L49L	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	49											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATGAGGCACTGAAAAGTAAGT	0.368		NaN											0	0	0	0.007835	0	39	33				
EFNA5	1946	broad.mit.edu	37	5	106722987	106722987	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:106722987C>A	uc003kol.2	-	4	796	c.514G>T	c.(514-516)GAT>TAT	p.D172Y		NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	172					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAAACACGATCATGAACACCT	0.318		NaN											1	0	0.00010058	0.001368	0.000101631	8	7				
MAN2A1	4124	broad.mit.edu	37	5	109051929	109051929	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:109051929C>G	uc003kou.1	+	3	1462	c.499C>G	c.(499-501)CAA>GAA	p.Q167E		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	167	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGAACCCCTTCAAGTCTTTGT	0.378		NaN											0	0	0	0.00278	0	24	26				
LARS	51520	broad.mit.edu	37	5	145557190	145557190	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:145557190C>G	uc003lnx.1	-	2	283	c.45G>C	c.(43-45)AAG>AAC	p.K15N	LARS_uc011dbq.1_Missense_Mutation_p.K15N|LARS_uc011dbr.1_Intron|LARS_uc011dbs.1_Missense_Mutation_p.K15N	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	15					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCTCAATCTTCTTCAAAA	0.363		NaN											0	0	0	0.010504	0	20	16				
ZNF454	285676	broad.mit.edu	37	5	178392337	178392337	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:178392337G>T	uc003mjo.1	+	5	1203	c.932G>T	c.(931-933)TGC>TTC	p.C311F	ZNF454_uc010jkz.1_Missense_Mutation_p.C311F	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	311	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCTTTGTGTGCAGGGCACAC	0.378		NaN											1	0	7.33628e-21	0.002299	7.79312e-21	21	22				
HIST1H2AK	8330	broad.mit.edu	37	6	27805964	27805964	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:27805964G>A	uc003njs.2	-	1	154	c.154C>T	c.(154-156)CTG>TTG	p.L52L	HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	52					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			upper_aerodigestive_tract(1)	1						ACCGCCGCCAGGTACACCGGC	0.652		NaN											0	0	0	0.009096	0	4	63				
CFB	629	broad.mit.edu	37	6	31895930	31895930	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:31895930C>T	uc011dor.1	+	2	509	c.245C>T	c.(244-246)GCG>GTG	p.A82V	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.A82V|C2_uc003nyf.2_Missense_Mutation_p.A82V|C2_uc010jtk.2_Intron|C2_uc011doq.1_Missense_Mutation_p.R44W|C2_uc003nyg.2_Intron	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	156	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CTGTCTAAGGCGGTCTGCAAA	0.473		NaN											0	0	0	0.004672	0	3	13				
UHRF1BP1	54887	broad.mit.edu	37	6	34824635	34824635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:34824635C>T	uc003oju.3	+	11	1594	c.1360C>T	c.(1360-1362)CAG>TAG	p.Q454*	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	454										ovary(3)	3						GCCTGCCTTTCAGCCTCCAGC	0.502		NaN											0	0	0	0.00278	0	22	47				
DAAM2	23500	broad.mit.edu	37	6	39828707	39828707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:39828707G>A	uc003oow.2	+	3	328	c.172G>A	c.(172-174)GAA>AAA	p.E58K	DAAM2_uc010jxc.2_Missense_Mutation_p.E58K|DAAM2_uc003oox.2_Missense_Mutation_p.E58K|DAAM2_uc003oov.3_Missense_Mutation_p.E58K|DAAM2_uc003ooy.3_Missense_Mutation_p.E58K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	58	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTTGCAGGATGAATTGGATCT	0.448		NaN											0	0	0	0.004482	0	9	15				
DST	667	broad.mit.edu	37	6	56492874	56492874	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:56492874C>T	uc003pdf.2	-	32	4490	c.4462G>A	c.(4462-4464)GAA>AAA	p.E1488K	DST_uc003pcz.3_Missense_Mutation_p.E1310K|DST_uc011dxj.1_Missense_Mutation_p.E1339K|DST_uc011dxk.1_Missense_Mutation_p.E1350K|DST_uc003pcy.3_Missense_Mutation_p.E984K|DST_uc003pdb.2_Missense_Mutation_p.E984K|DST_uc003pdc.3_Missense_Mutation_p.E984K|DST_uc003pdd.3_Missense_Mutation_p.E984K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1310					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGTAGTTTCAACCTGCTGG	0.388		NaN											0	0	0	0.00278	0	21	48				
KCNQ5	56479	broad.mit.edu	37	6	73751677	73751677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:73751677G>A	uc003pgk.2	+	3	855	c.508G>A	c.(508-510)GTC>ATC	p.V170I	KCNQ5_uc003pgj.3_Missense_Mutation_p.V170I|KCNQ5_uc011dyh.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyi.1_Missense_Mutation_p.V170I|KCNQ5_uc010kat.2_Missense_Mutation_p.V170I|KCNQ5_uc011dyj.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	170	Helical; Name=Segment S2; (Potential).				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGATTGTCGTCTTTGGTTT	0.423		NaN											0	0	0	0.00361	0	71	141				
MDN1	23195	broad.mit.edu	37	6	90402857	90402857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:90402857G>A	uc003pnn.1	-	63	10008	c.9892C>T	c.(9892-9894)CAA>TAA	p.Q3298*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3298					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCATCCTTTGGCGAAGCAGC	0.473		NaN											0	0	0	0.00308	0	8	26				
C6orf167	253714	broad.mit.edu	37	6	97626386	97626386	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:97626386G>A	uc003ppb.2	-	18	2878	c.2612C>T	c.(2611-2613)TCA>TTA	p.S871L	C6orf167_uc011eaf.1_Missense_Mutation_p.S831L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	871					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TTGGGCCTTTGAGAAAATACT	0.299		NaN											0	0	0	0.003163	0	14	46				
COQ3	51805	broad.mit.edu	37	6	99823896	99823896	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:99823896C>G	uc003ppk.2	-	5	676	c.649G>C	c.(649-651)GAT>CAT	p.D217H		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	217					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	p.D217H(1)		upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACAACAGCATCAAATGTTTCT	0.388		NaN											0	0	0	0.00623	0	40	116				
SIM1	6492	broad.mit.edu	37	6	100896129	100896129	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:100896129C>G	uc003pqj.3	-	7	951	c.744_splice	c.e7-1	p.R248_splice	SIM1_uc010kcu.2_Splice_Site_p.R248_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCCGCCACCCTGAGGAGAGC	0.637		NaN											0	0	0	0.009096	0	4	25				
LAMA4	3910	broad.mit.edu	37	6	112476059	112476059	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:112476059C>G	uc003pvu.2	-	16	2359	c.2050G>C	c.(2050-2052)GAG>CAG	p.E684Q	LAMA4_uc003pvv.2_Missense_Mutation_p.E677Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E677Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	684	Domain II and I.|Potential.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACTAGACTCTGCCTTTGCT	0.393		NaN											0	0	0	0.005443	0	25	58				
VNN2	8875	broad.mit.edu	37	6	133073771	133073771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:133073771G>T	uc003qdt.2	-	4	666	c.655C>A	c.(655-657)CCT>ACT	p.P219T	VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.P166T	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	219	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAACACCAGGATCATAGAAG	0.438		NaN											1	0	9.84934e-19	0.002522	1.04245e-18	45	109				
THBS2	7058	broad.mit.edu	37	6	169623541	169623541	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:169623541C>T	uc003qwt.2	-	19	3051	c.2803G>A	c.(2803-2805)GAT>AAT	p.D935N		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	935	TSP type-3 8.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCAAAATCATCTTTACAA	0.393		NaN											0	0	0	0.007291	0	28	54				
SUN1	23353	broad.mit.edu	37	7	883137	883137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:883137C>G	uc011jvp.1	+	6	717	c.638C>G	c.(637-639)TCT>TGT	p.S213C	SUN1_uc010ksa.1_Missense_Mutation_p.S234C|SUN1_uc003sje.1_Missense_Mutation_p.S213C|SUN1_uc003sjf.2_Missense_Mutation_p.S163C|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.S24C	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	213	SYNE2-binding.|Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						AGAGTTTATTCTAGGGACAGG	0.502		NaN											0	0	0	0.00361	0	79	186				
KIAA0415	9907	broad.mit.edu	37	7	4830402	4830402	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:4830402C>T	uc003sne.2	+	16	2120	c.2037C>T	c.(2035-2037)TTC>TTT	p.F679F	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.F156F	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	679					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CTCTGCTATTCGAGGTCACCC	0.647		NaN											0	0	0	0.00308	0	8	11				
C7orf28A	51622	broad.mit.edu	37	7	5942310	5942310	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:5942310C>G	uc003spf.2	+	6	547	c.457C>G	c.(457-459)CTG>GTG	p.L153V		NM_015622	NP_056437	P86791	CCZ1_HUMAN	hypothetical protein LOC51622	153				LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038).		lysosomal membrane					0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)		TGGTACATTTCTGAAAGCCAT	0.323		NaN											0	0	0	0.005443	0	19	33				
ABCA13	154664	broad.mit.edu	37	7	48312697	48312697	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:48312697A>G	uc003toq.2	+	17	3459	c.3434A>G	c.(3433-3435)CAC>CGC	p.H1145R	ABCA13_uc010kyr.2_Missense_Mutation_p.H648R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1145					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATGTCCATTCACTGTACCGTT	0.353		NaN											0	0	0	0.006122	0	15	43				
ASL	435	broad.mit.edu	37	7	65548157	65548157	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:65548157G>C	uc003tuo.2	+	6	553	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	ASL_uc011kdu.1_Missense_Mutation_p.E148Q|ASL_uc010kzx.1_3'UTR|ASL_uc011kdv.1_Missense_Mutation_p.E148Q|ASL_uc003tup.2_Missense_Mutation_p.E148Q|ASL_uc003tur.2_Missense_Mutation_p.E148Q|ASL_uc003tuq.2_Missense_Mutation_p.E148Q	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	148					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	GGATCGGGCAGAGGCGTGAGT	0.637		NaN											0	0	0	0.004007	0	16	22				
CYP3A4	1576	broad.mit.edu	37	7	99367796	99367796	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:99367796C>T	uc003urv.1	-	5	485	c.381G>A	c.(379-381)AAG>AAA	p.K127K	CYP3A4_uc003urw.1_Silent_p.K127K|CYP3A4_uc011kiz.1_Intron|CYP3A4_uc011kja.1_Silent_p.K78K|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	127					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATCGTAATCTCTTCCATTCTT	0.378		NaN											0	0	0	0.003271	0	34	58				
UBN2	254048	broad.mit.edu	37	7	138968238	138968238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:138968238C>G	uc011kqr.1	+	15	2587	c.2587C>G	c.(2587-2589)CAG>GAG	p.Q863E		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	863										ovary(1)|skin(1)	2						TTCTTCCATTCAGAACCCTAA	0.463		NaN											0	0	0	0.006999	0	42	66				
ZNF777	27153	broad.mit.edu	37	7	149152725	149152725	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:149152725T>G	uc003wfv.2	-	2	552	c.389A>C	c.(388-390)CAC>CCC	p.H130P		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCAGGGGAGTGAACGGGGGC	0.612		NaN											0	0	0	0.00361	0	98	192				
NOS3	4846	broad.mit.edu	37	7	150699002	150699002	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:150699002G>C	uc003wif.2	+	13	1892	c.1596G>C	c.(1594-1596)CAG>CAC	p.Q532H	NOS3_uc011kuy.1_Missense_Mutation_p.Q326H|NOS3_uc011kuz.1_Missense_Mutation_p.Q532H|NOS3_uc011kva.1_Missense_Mutation_p.Q532H|NOS3_uc011kvb.1_Missense_Mutation_p.Q532H	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	532	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCGGGCCCAGAGCTACGCAC	0.647		NaN											0	0	0	0.006122	0	19	39				
LGI3	203190	broad.mit.edu	37	8	22005745	22005745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:22005745C>A	uc003xav.2	-	8	1864	c.1575G>T	c.(1573-1575)CAG>CAT	p.Q525H	LGI3_uc010ltu.2_Missense_Mutation_p.Q501H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	525	EAR 7.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAGGAGTAGCTGGGCGTCCC	0.607		NaN											1	0	7.11191e-15	0.002836	7.47266e-15	34	39				
GSR	2936	broad.mit.edu	37	8	30557646	30557646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:30557646C>T	uc003xih.1	-	6	738	c.647G>A	c.(646-648)AGC>AAC	p.S216N		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	216					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TATTCCTAAGCTGGCACCTAT	0.428		NaN											0	0	0	0.00333	0	24	25				
ADAM32	203102	broad.mit.edu	37	8	39044508	39044508	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:39044508C>T	uc003xmt.3	+	11	1241	c.996C>T	c.(994-996)GAC>GAT	p.D332D	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	332	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATCATATGACGACCCAAAGA	0.348		NaN											0	0	0	0.00361	0	103	32				
RDH10	157506	broad.mit.edu	37	8	74235043	74235043	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:74235043G>C	uc003xzi.2	+	5	1160	c.900G>C	c.(898-900)AAG>AAC	p.K300N	RDH10_uc003xzj.2_Missense_Mutation_p.K135N|uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	300					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTTCATGAAGAGGTAACTGG	0.512		NaN											0	0	0	0.002836	0	31	51				
ZFAND1	79752	broad.mit.edu	37	8	82626198	82626198	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:82626198C>T	uc003ycj.1	-	6	449	c.435G>A	c.(433-435)TTG>TTA	p.L145L	ZFAND1_uc010lzx.1_Silent_p.L145L|ZFAND1_uc003yck.1_Silent_p.L38L	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	145							zinc ion binding			ovary(1)	1						TTAATTTCATCAATGCAACCT	0.313		NaN											0	0	0	0.007413	0	19	27				
RAD54B	25788	broad.mit.edu	37	8	95392433	95392433	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392433G>T	uc003ygk.2	-	12	2285	c.2187C>A	c.(2185-2187)CTC>CTA	p.L729L	RAD54B_uc010may.1_Silent_p.L536L	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATCCTCCAATGAGGTTAAGTC	0.318		NaN						Direct_reversal_of_damage|Homologous_recombination					1	0	1.49906e-05	0.00245	1.52536e-05	14	19				
RAD54B	25788	broad.mit.edu	37	8	95392461	95392461	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392461G>C	uc003ygk.2	-	12	2257	c.2159C>G	c.(2158-2160)TCA>TGA	p.S720*	RAD54B_uc010may.1_Nonsense_Mutation_p.S527*	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACCAGCTTTTGAACTTAACAA	0.368		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.008291	0	11	24				
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:103357737G>A	uc003ykr.1	-	8	806	c.773C>T	c.(772-774)TCT>TTT	p.S258F	UBR5_uc003yks.1_Missense_Mutation_p.S258F	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	258				S -> Y (in Ref. 2; AAF88143).	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGGTGGGCAGAATGAATGTC	0.413		NaN											0	0	0	0.006122	0	17	31				
CSMD3	114788	broad.mit.edu	37	8	113529420	113529420	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:113529420G>A	uc003ynu.2	-	28	4758	c.4599C>T	c.(4597-4599)GTC>GTT	p.V1533V	CSMD3_uc003yns.2_Silent_p.V805V|CSMD3_uc003ynt.2_Silent_p.V1493V|CSMD3_uc011lhx.1_Silent_p.V1429V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1533	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATTCATGGGGACCCCTGGGT	0.423		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.007413	0	17	30				
HAS2	3037	broad.mit.edu	37	8	122626714	122626714	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:122626714C>G	uc003yph.2	-	4	1832	c.1294G>C	c.(1294-1296)GTC>CTC	p.V432L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	432	Helical; Name=5; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGACCATGACGATATTTCCT	0.428		NaN											0	0	0	0.004482	0	9	206				
DGAT1	8694	broad.mit.edu	37	8	145540687	145540687	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:145540687C>G	uc003zbv.3	-	15	1514	c.1246G>C	c.(1246-1248)GAG>CAG	p.E416Q	DGAT1_uc010mfv.2_Missense_Mutation_p.R250P	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	416	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACTGACCTCGTGGAAGAAG	0.647		NaN											0	0	0	0.006122	0	19	37				
TTC16	158248	broad.mit.edu	37	9	130482603	130482603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:130482603G>T	uc004brq.1	+	6	653	c.586G>T	c.(586-588)GAG>TAG	p.E196*	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.E183*|TTC16_uc004brr.1_Nonsense_Mutation_p.E141*|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	196							binding				0						CATCACCAACGAGCTGAAGCA	0.622		NaN											1	0	4.18559e-23	0.00361	4.46257e-23	50	37				
TSC1	7248	broad.mit.edu	37	9	135781236	135781236	+	Nonsense_Mutation	SNP	C	C	A	rs118203570		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:135781236C>A	uc004cca.2	-	15	1963	c.1729G>T	c.(1729-1731)GAG>TAG	p.E577*	TSC1_uc004ccb.3_Nonsense_Mutation_p.E576*|TSC1_uc011mcq.1_Nonsense_Mutation_p.E526*|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	577			E -> D.		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATACTGGTCTCCAAAGAAGTC	0.547		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				1	0	4.26978e-12	0.00333	4.43812e-12	22	21		Valid		
GPSM1	26086	broad.mit.edu	37	9	139250815	139250815	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:139250815C>T	uc004chd.2	+	13	1854	c.1634C>T	c.(1633-1635)TCG>TTG	p.S545L	GPSM1_uc011mdu.1_Missense_Mutation_p.S36L|GPSM1_uc004che.2_Missense_Mutation_p.S36L	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	545					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		ATGACGGCCTCGCCCCAGACC	0.721		NaN											0	0	0	0.004482	0	9	8				
CCDC120	90060	broad.mit.edu	37	X	48925325	48925325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:48925325G>C	uc010nik.2	+	10	2077	c.1570G>C	c.(1570-1572)GAA>CAA	p.E524Q	CCDC120_uc011mmq.1_Missense_Mutation_p.E512Q|CCDC120_uc004dmf.2_Missense_Mutation_p.E524Q|CCDC120_uc010nil.2_Missense_Mutation_p.E524Q|CCDC120_uc011mmr.1_Missense_Mutation_p.E524Q|CCDC120_uc011mms.1_Missense_Mutation_p.E512Q	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	524	Pro-rich.						protein binding			pancreas(1)	1						AGAGGCTGCCGAAGGCCCTGA	0.657		NaN											0	0	0	0.009096	0	4	0				
UBQLN2	29978	broad.mit.edu	37	X	56591564	56591564	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:56591564C>G	uc004dus.2	+	1	1493	c.1258C>G	c.(1258-1260)CCT>GCT	p.P420A	UBQLN2_uc011moq.1_Missense_Mutation_p.P420A	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	420						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						TACTGCAAATCCTCAGCTGCA	0.542		NaN											0	0	0	0.000978	0	12	5				
ZC3H12B	340554	broad.mit.edu	37	X	64722819	64722819	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:64722819G>C	uc010nko.2	+	5	2217	c.2208G>C	c.(2206-2208)TTG>TTC	p.L736F		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	736							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CCTATCCCTTGAGTAACAGCC	0.557		NaN											0	0	0	0.003163	0	16	11				
TMEM31	203562	broad.mit.edu	37	X	102968912	102968912	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:102968912C>G	uc004elh.2	+	3	684	c.493C>G	c.(493-495)CTG>GTG	p.L165V	GLRA4_uc011mse.1_Intron	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	165	Helical; (Potential).					integral to membrane					0						tgtcttcattctgatcttctt	0.159		NaN											0	0	0	0.001984	0	7	2				
STAG2	10735	broad.mit.edu	37	X	123176495	123176495	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:123176495G>A	uc004etz.3	+	6	801	c.462G>A	c.(460-462)GAG>GAA	p.E154E	STAG2_uc004eua.2_Silent_p.E154E|STAG2_uc004eub.2_Silent_p.E154E|STAG2_uc004euc.2_Silent_p.E154E|STAG2_uc004eud.2_Silent_p.E154E|STAG2_uc004eue.2_Silent_p.E154E	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	154					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AATTCGATGAGGTAACTTACT	0.279		NaN											0	0	0	0.00245	0	15	5				
ENOX2	10495	broad.mit.edu	37	X	129771250	129771250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771250C>G	uc004evw.2	-	12	1769	c.1351G>C	c.(1351-1353)GAA>CAA	p.E451Q	ENOX2_uc004evx.2_Missense_Mutation_p.E422Q|ENOX2_uc004evy.2_Missense_Mutation_p.E422Q|ENOX2_uc004evv.2_Missense_Mutation_p.E276Q	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	451	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						AGCTGCTGTTCTTTGTTAGGG	0.473		NaN											0	0	0	0.00361	0	83	44				
ENOX2	10495	broad.mit.edu	37	X	129771262	129771262	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771262C>A	uc004evw.2	-	12	1757	c.1339G>T	c.(1339-1341)GAC>TAC	p.D447Y	ENOX2_uc004evx.2_Missense_Mutation_p.D418Y|ENOX2_uc004evy.2_Missense_Mutation_p.D418Y|ENOX2_uc004evv.2_Missense_Mutation_p.D272Y	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	447	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						TTGTTAGGGTCATCTTCTCTG	0.473		NaN											1	0	5.00475e-40	0.00361	5.39545e-40	84	41				
SPANXC	64663	broad.mit.edu	37	X	140336533	140336533	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:140336533C>T	uc004fbk.2	-	1	114	c.58G>A	c.(58-60)GAG>AAG	p.E20K	SPANXC_uc004fbl.2_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	20						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TCATTCACCTCGTTGGATTCA	0.303		NaN											0	0	0	0.00361	0	52	30				
MIB2	142678	broad.mit.edu	37	1	1563943	1563943	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:1563943G>A	uc001agg.2	+	16	2344	c.2217G>A	c.(2215-2217)GTG>GTA	p.V739V	MIB2_uc001agh.2_Silent_p.V725V|MIB2_uc001agi.2_Silent_p.V735V|MIB2_uc001agj.2_Silent_p.V580V|MIB2_uc001agk.2_Silent_p.V674V|MIB2_uc001agl.1_Silent_p.V695V|MIB2_uc001agm.2_Silent_p.V616V|MIB2_uc010nyq.1_Silent_p.V695V|MIB2_uc009vkh.2_Silent_p.V545V|MIB2_uc001agn.2_Silent_p.V371V|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	739	ANK 7.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCCCACGTGGGGCTGGTGC	0.697		NaN											0	0	0	1	0	3	9				
PTCHD2	57540	broad.mit.edu	37	1	11586880	11586880	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11586880A>G	uc001ash.3	+	13	2924	c.2786A>G	c.(2785-2787)CAG>CGG	p.Q929R	PTCHD2_uc001asi.1_Missense_Mutation_p.Q929R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	929	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCAAGGAGCAGCAGCACACC	0.592		NaN											0	0	0	1	0	13	40				
NPPB	4879	broad.mit.edu	37	1	11918889	11918889	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11918889A>T	uc001atj.2	-	1	104	c.2T>A	c.(1-3)ATG>AAG	p.M1K		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	1					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CTGGGGATCCATGTCTCTGGA	0.532		NaN											0	0	0	1	0	24	43				
DDI2	84301	broad.mit.edu	37	1	15959933	15959933	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15959933G>C	uc001awx.1	+	4	602	c.506_splice	c.e4-1	p.E169_splice	DDI2_uc001aww.2_Splice_Site_p.E169_splice|DDI2_uc009voj.1_Splice_Site	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2						proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATTTTTGTAGAGAAATTTTC	0.393		NaN											0	0	0	1	0	78	149				
DDI2	84301	broad.mit.edu	37	1	15978369	15978369	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15978369C>G	uc001awx.1	+	8	1258	c.1162C>G	c.(1162-1164)CAA>GAA	p.Q388E	DDI2_uc009voj.1_Missense_Mutation_p.Q129E	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	388					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAGCCCTTCAAAAATCAGC	0.512		NaN											0	0	0	1	0	13	16				
CLCNKA	1187	broad.mit.edu	37	1	16358726	16358726	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:16358726G>A	uc001axu.2	+	17	1865	c.1785G>A	c.(1783-1785)CAG>CAA	p.Q595Q	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.Q595Q|CLCNKA_uc010obw.1_Silent_p.Q552Q|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	595	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCATCGTGCAGAGGGCCCAGC	0.642		NaN											0	0	0	1	0	15	33				
KLHDC7A	127707	broad.mit.edu	37	1	18808004	18808004	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:18808004G>A	uc001bax.2	+	1	581	c.529G>A	c.(529-531)GAC>AAC	p.D177N	KLHDC7A_uc009vpg.2_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	177						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCAGCCGACGGCAGCTG	0.607		NaN											0	0	0	1	0	11	30				
FAM54B	56181	broad.mit.edu	37	1	26153217	26153217	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:26153217G>A	uc001bkq.3	+	5	561	c.351G>A	c.(349-351)CTG>CTA	p.L117L	FAM54B_uc001bkr.3_Silent_p.L117L|FAM54B_uc010oet.1_Silent_p.L150L|FAM54B_uc009vrz.2_Silent_p.L114L|FAM54B_uc001bks.3_Silent_p.L117L|FAM54B_uc001bkt.3_Silent_p.L117L|FAM54B_uc001bku.3_Silent_p.L114L|FAM54B_uc001bkv.3_Silent_p.L20L	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN	hypothetical protein LOC56181 isoform a	117										pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGCCCTGAAGAAGCCAG	0.607		NaN											0	0	0	1	0	33	60				
SLC9A1	6548	broad.mit.edu	37	1	27480481	27480481	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27480481C>T	uc001bnm.2	-	1	971	c.345G>A	c.(343-345)ATG>ATA	p.M115I	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.M115I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	115	Helical; Name=M2; (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TACCTATCTTCATGAGGCAGG	0.587		NaN											0	0	0	1	0	23	50				
COL16A1	1307	broad.mit.edu	37	1	32157645	32157645	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:32157645G>T	uc001btk.1	-	17	1583	c.1218C>A	c.(1216-1218)GAC>GAA	p.D406E	COL16A1_uc001btj.1_Missense_Mutation_p.D235E|COL16A1_uc001btl.3_Missense_Mutation_p.D406E	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	406	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGATGCCTCCGTCGCCCTTCT	0.647		NaN											1	0	2.39187e-15	1	2.50233e-15	21	49				
CSMD2	114784	broad.mit.edu	37	1	33989000	33989000	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:33989000A>G	uc001bxn.1	-	66	10013	c.9984T>C	c.(9982-9984)GAT>GAC	p.D3328D	CSMD2_uc001bxm.1_Silent_p.D3472D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3328	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGATGAAAATCTTCTTTCT	0.383		NaN											0	0	0	1	0	6	3				
SFPQ	6421	broad.mit.edu	37	1	35657035	35657035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:35657035G>A	uc001bys.2	-	2	1017	c.924C>T	c.(922-924)ATC>ATT	p.I308I	SFPQ_uc001byr.2_5'Flank	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	308	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCCTCCGTGATATCAGCAG	0.403		NaN	T	TFE3	papillary renal cell								0	0	0	1	0	15	16				
THRAP3	9967	broad.mit.edu	37	1	36762187	36762187	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:36762187G>A	uc001cae.3	+	9	2343	c.2119G>A	c.(2119-2121)GAG>AAG	p.E707K	THRAP3_uc001caf.3_Missense_Mutation_p.E707K	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	707					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGATAGGCTGAGGGAAAATA	0.408		NaN	T	USP6	aneurysmal bone cysts								0	0	0	1	0	27	15				
ECHDC2	55268	broad.mit.edu	37	1	53387303	53387303	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:53387303G>A	uc001cup.3	-	1	289	c.43C>T	c.(43-45)CGG>TGG	p.R15W	ECHDC2_uc001cun.2_5'UTR|ECHDC2_uc001cuo.3_Missense_Mutation_p.R15W|ECHDC2_uc010onk.1_5'UTR|ECHDC2_uc010onl.1_5'Flank|ECHDC2_uc010onm.1_5'UTR|ECHDC2_uc010onn.1_5'UTR	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	15					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						CCGCGGGCCCGAAGGGGCCTC	0.731		NaN											0	0	0	1	0	5	6				
TM2D1	83941	broad.mit.edu	37	1	62190818	62190818	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:62190818C>T	uc001czz.1	-	1	278	c.-25G>A	c.(-27--23)AAGTG>AAATG			NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	beta-amyloid binding protein precursor						apoptosis					ovary(1)	1						TTTCTCGCCACTTCCGCTTCC	0.642		NaN											0	0	0	1	0	27	37				
C1orf141	400757	broad.mit.edu	37	1	67560923	67560923	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:67560923G>A	uc001ddl.1	-	6	709	c.598C>T	c.(598-600)CAC>TAC	p.H200Y	C1orf141_uc001ddm.1_Missense_Mutation_p.H200Y|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	200										ovary(1)	1						ATTACCATGTGAGAAGTTACT	0.343		NaN											0	0	0	1	0	7	15				
ANKRD13C	81573	broad.mit.edu	37	1	70736618	70736618	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:70736618T>C	uc001dex.3	-	12	1742	c.1416A>G	c.(1414-1416)GTA>GTG	p.V472V	ANKRD13C_uc009wbk.2_Silent_p.V437V	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	472					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						AGGGAGCTACTACTTCTAAAA	0.284		NaN											0	0	0	1	0	11	23				
ZRANB2	9406	broad.mit.edu	37	1	71544365	71544365	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:71544365C>T	uc001dft.2	-	2	150	c.83G>A	c.(82-84)AGA>AAA	p.R28K	uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Missense_Mutation_p.R28K	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	28	RanBP2-type 1.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						ACAGCTGGTTCTTCTAGCAAA	0.264		NaN											0	0	0	1	0	31	64				
GBP4	115361	broad.mit.edu	37	1	89654466	89654466	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:89654466C>T	uc001dnb.2	-	8	1325	c.1209G>A	c.(1207-1209)GAG>GAA	p.E403E		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	403				IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889).		cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTTCTTTTTCTCTATGGTGT	0.448		NaN											0	0	0	1	0	58	91				
DR1	1810	broad.mit.edu	37	1	93812391	93812391	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:93812391G>A	uc001dpu.2	+	1	914	c.189G>A	c.(187-189)AAG>AAA	p.K63K	uc001dps.2_5'Flank|uc001dpt.1_5'Flank|DR1_uc010otj.1_Silent_p.K63K	NM_001938	NP_001929	Q01658	NC2B_HUMAN	down-regulator of transcription 1	63					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity				0		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		AATCGGAAAAGAAGACCATCT	0.468		NaN											0	0	0	1	0	7	14				
DPYD	1806	broad.mit.edu	37	1	98187148	98187148	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:98187148T>A	uc001drv.2	-	5	538	c.401A>T	c.(400-402)GAT>GTT	p.D134V	DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.D134V	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	134					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACACAAAGATCAGAGGTTGG	0.383		NaN											0	0	0	1	0	12	61				
LPPR4	9890	broad.mit.edu	37	1	99772144	99772144	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:99772144G>C	uc001dse.2	+	7	1976	c.1870G>C	c.(1870-1872)GAG>CAG	p.E624Q	LPPR4_uc010oue.1_Missense_Mutation_p.E566Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	624							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTGAGGGTTGAGGCTCACCC	0.562		NaN											0	0	0	1	0	20	37				
CELSR2	1952	broad.mit.edu	37	1	109805873	109805873	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:109805873C>T	uc001dxa.3	+	8	4879	c.4818C>T	c.(4816-4818)GGC>GGT	p.G1606G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1606	Extracellular (Potential).|EGF-like 4; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTTGGGGGCAAGAGCTGCG	0.637		NaN											0	0	0	1	0	8	26				
SLC16A1	6566	broad.mit.edu	37	1	113456585	113456585	+	Silent	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:113456585A>C	uc001ecx.2	-	5	2263	c.1431T>G	c.(1429-1431)GTT>GTG	p.V477V	SLC16A1_uc001ecy.2_Silent_p.V477V	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	477	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTGCTTTGGTAACTTCATTTG	0.458		NaN											0	0	0	1	0	55	75				
PHTF1	10745	broad.mit.edu	37	1	114246790	114246790	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:114246790C>T	uc009wgp.1	-	14	2256	c.1804_splice	c.e14-1	p.R602_splice	PHTF1_uc001edn.2_Intron|PHTF1_uc001edm.2_Splice_Site_p.R359_splice	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGTCTCTGTGGAGTGA	0.428		NaN											0	0	0	1	0	11	22				
MAN1A2	10905	broad.mit.edu	37	1	117944919	117944919	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:117944919G>A	uc001ehd.1	+	2	1135	c.414G>A	c.(412-414)CAG>CAA	p.Q138Q	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	138	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAGAAATTCAGACAGAGAAAA	0.403		NaN											0	0	0	1	0	26	43				
WDR3	10885	broad.mit.edu	37	1	118502031	118502031	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:118502031G>C	uc010oxe.1	+	27	2859	c.2793G>C	c.(2791-2793)AAG>AAC	p.K931N	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	931						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		agaagaggaagaggaaaaaga	0.299		NaN											0	0	0	1	0	14	39				
TBX15	6913	broad.mit.edu	37	1	119456781	119456781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:119456781G>A	uc001ehl.1	-	6	880	c.565C>T	c.(565-567)CGA>TGA	p.R189*		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	295	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAAGGGTTTCGGTCAATTTTT	0.333		NaN											0	0	0	1	0	15	23				
PDE4DIP	9659	broad.mit.edu	37	1	144874026	144874026	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144874026G>A	uc001elw.3	-	31	5222	c.4931C>T	c.(4930-4932)TCC>TTC	p.S1644F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1600F|PDE4DIP_uc001elv.3_Missense_Mutation_p.S651F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1644					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458		NaN	T	PDGFRB	MPD								0	0	0	1	0	58	267				
PDE4DIP	9659	broad.mit.edu	37	1	144917918	144917918	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144917918G>A	uc001elw.3	-	11	1659	c.1368C>T	c.(1366-1368)CTC>CTT	p.L456L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L522L|PDE4DIP_uc001emc.1_Silent_p.L456L|PDE4DIP_uc001emd.1_Silent_p.L456L|PDE4DIP_uc001emb.1_Silent_p.L619L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L243L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	456	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATACTGTAGGAGCTCCCGAA	0.284		NaN	T	PDGFRB	MPD								0	0	0	1	0	51	254				
TCHH	7062	broad.mit.edu	37	1	152084109	152084109	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:152084109G>A	uc001ezp.2	-	2	1584	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L	TCHH_uc009wne.1_Silent_p.L528L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	528	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGCTGCTGGAGCCTCTCTT	0.652		NaN											0	0	0	1	0	47	92				
CREB3L4	148327	broad.mit.edu	37	1	153941087	153941087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941087G>A	uc001fdn.3	+	2	352	c.86G>A	c.(85-87)GGA>GAA	p.G29E	SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Missense_Mutation_p.G29E|CREB3L4_uc001fdm.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdp.1_Missense_Mutation_p.G29E|CREB3L4_uc010peg.1_Missense_Mutation_p.G29E|CREB3L4_uc001fdr.2_Missense_Mutation_p.G29E|CREB3L4_uc001fdq.2_Missense_Mutation_p.G29E	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	29	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGAGCTGGGACTCCACTGC	0.617		NaN											0	0	0	1	0	30	39				
CREB3L4	148327	broad.mit.edu	37	1	153941855	153941855	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941855G>T	uc001fdn.3	+	4	733	c.467G>T	c.(466-468)AGT>ATT	p.S156I	SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.S9I|CREB3L4_uc001fdo.3_Missense_Mutation_p.S136I|CREB3L4_uc001fdm.1_Missense_Mutation_p.S156I|CREB3L4_uc001fdp.1_Missense_Mutation_p.S136I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.S156I|CREB3L4_uc001fdq.2_Missense_Mutation_p.S136I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	156	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCATGGTCAGTGAGCTGCCC	0.557		NaN											1	0	1.62565e-12	1	1.69171e-12	35	45				
KRTCAP2	200185	broad.mit.edu	37	1	155145044	155145044	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155145044C>T	uc001fho.2	-	3	324	c.298G>A	c.(298-300)GAG>AAG	p.E100K	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Missense_Mutation_p.E100K|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	100	Helical; (Potential).					integral to membrane					0	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTTACTCTCAGGGAAGATC	0.418		NaN											0	0	0	1	0	18	41				
ASH1L	55870	broad.mit.edu	37	1	155316194	155316194	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155316194C>G	uc009wqq.2	-	21	8365	c.7885G>C	c.(7885-7887)GAC>CAC	p.D2629H	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2624H|MIR555_hsa-mir-555|MI0003561_RNA	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2629	PHD-type.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCCTTGGGTCACACTGCTCA	0.478		NaN											0	0	0	1	0	39	51				
LRRC52	440699	broad.mit.edu	37	1	165532806	165532806	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:165532806G>A	uc001gde.2	+	2	743	c.687G>A	c.(685-687)GGG>GGA	p.G229G	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	229	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCCGGGTGGGGAACCCACTCC	0.557		NaN											0	0	0	1	0	13	26				
DUSP27	92235	broad.mit.edu	37	1	167095044	167095044	+	Missense_Mutation	SNP	G	G	A	rs144186156		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:167095044G>A	uc001geb.1	+	5	676	c.676G>A	c.(676-678)GAA>AAA	p.E226K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	226	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GGTCAGCAGCGAAATGGGCAT	0.478		NaN											0	0	0	1	0	26	42				
FMO2	2327	broad.mit.edu	37	1	171174530	171174530	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:171174530G>A	uc001ghk.1	+	7	1057	c.940G>A	c.(940-942)GAG>AAG	p.E314K	FMO2_uc010pmd.1_Missense_Mutation_p.E94K	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	314					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCATCTTTGAGGATGGAAC	0.413		NaN											0	0	0	1	0	25	32				
RC3H1	149041	broad.mit.edu	37	1	173953689	173953689	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:173953689C>T	uc001gju.3	-	2	387	c.300G>A	c.(298-300)AAG>AAA	p.K100K	RC3H1_uc010pms.1_Silent_p.K100K|RC3H1_uc001gjv.2_Silent_p.K100K|RC3H1_uc010pmt.1_Silent_p.K100K	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	100					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTACACATTTCTTGGCTTCCT	0.383		NaN											0	0	0	1	0	12	16				
C1orf125	126859	broad.mit.edu	37	1	179478451	179478451	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179478451C>G	uc001gmo.2	+	21	2536	c.2409C>G	c.(2407-2409)ATC>ATG	p.I803M	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	803											0						ATGAATGGATCAACACATGCT	0.348		NaN											0	0	0	1	0	14	30				
CEP350	9857	broad.mit.edu	37	1	179993589	179993589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179993589G>A	uc001gnt.2	+	14	3805	c.3422G>A	c.(3421-3423)AGA>AAA	p.R1141K	CEP350_uc009wxl.2_Missense_Mutation_p.R1140K|CEP350_uc001gnu.2_Missense_Mutation_p.R974K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1141	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4						CATTCTAACAGAAAGTCTGCC	0.413		NaN											0	0	0	1	0	21	27				
PLEKHA6	22874	broad.mit.edu	37	1	204228552	204228552	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228552C>G	uc001hau.2	-	8	1158	c.841G>C	c.(841-843)GGG>CGG	p.G281R	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	281	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTGTGCTCCCTGGCCGGCTT	0.657		NaN											0	0	0	1	0	25	51				
PLEKHA6	22874	broad.mit.edu	37	1	204228723	204228723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228723C>G	uc001hau.2	-	8	987	c.670G>C	c.(670-672)GAG>CAG	p.E224Q	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	224	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTGGCCTCTCAGGCCTTCTC	0.652		NaN											0	0	0	1	0	19	56				
PLEKHA6	22874	broad.mit.edu	37	1	204228847	204228847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228847C>G	uc001hau.2	-	8	863	c.546G>C	c.(544-546)GAG>GAC	p.E182D	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	182	Pro-rich.									ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGGGACGTTCTCCGAGTCTG	0.627		NaN											0	0	0	1	0	12	32				
SYT14	255928	broad.mit.edu	37	1	210334350	210334350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:210334350A>T	uc009xcv.2	+	8	1703	c.1631A>T	c.(1630-1632)CAG>CTG	p.Q544L	SYT14_uc001hhs.3_Missense_Mutation_p.Q608L|SYT14_uc001hht.3_Missense_Mutation_p.Q563L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.Q589L|SYT14_uc010pso.1_Missense_Mutation_p.Q506L|SYT14_uc010psp.1_Missense_Mutation_p.Q82L	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	544	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAAAAGGACAGCAAGTATGT	0.388		NaN											0	0	0	1	0	35	62				
KCNK2	3776	broad.mit.edu	37	1	215259819	215259819	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:215259819C>T	uc001hkq.2	+	2	324	c.155C>T	c.(154-156)ACG>ATG	p.T52M	KCNK2_uc001hko.2_Missense_Mutation_p.T48M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T37M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	52	Cytoplasmic (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGAGTGACACGACCATTAAT	0.512		NaN											0	0	0	1	0	15	32				
WDR26	80232	broad.mit.edu	37	1	224581534	224581534	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:224581534A>C	uc001hop.3	-	13	1881	c.1515T>G	c.(1513-1515)ATT>ATG	p.I505M	WDR26_uc001hoq.3_Missense_Mutation_p.I489M|WDR26_uc010pvh.1_Missense_Mutation_p.I212M	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	652						cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		TATTACCTTCAATATTCTGGT	0.388		NaN											0	0	0	1	0	25	41				
PCNXL2	80003	broad.mit.edu	37	1	233394514	233394514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:233394514C>T	uc001hvl.2	-	5	1329	c.1094G>A	c.(1093-1095)GGA>GAA	p.G365E	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	365						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGGGTCTCCGGGTTGAGA	0.517		NaN											0	0	0	1	0	30	65				
ZNF238	10472	broad.mit.edu	37	1	244218534	244218534	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:244218534G>A	uc001iae.2	+	1	1953	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	ZNF238_uc001iad.3_Silent_p.Q486Q|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	477	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GGTTCACGCAGTCCGGGGACC	0.587		NaN											0	0	0	1	0	14	42				
AHCTF1	25909	broad.mit.edu	37	1	247024465	247024465	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247024465C>T	uc001ibu.1	-	28	3875	c.3868G>A	c.(3868-3870)GAA>AAA	p.E1290K	AHCTF1_uc001ibv.1_Missense_Mutation_p.E1299K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E151K|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1290	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCATCCATTTCTTGATGCTCC	0.423		NaN											0	0	0	1	0	15	30				
NLRP3	114548	broad.mit.edu	37	1	247588651	247588651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247588651G>A	uc001icr.2	+	5	2044	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	NLRP3_uc001ics.2_Missense_Mutation_p.E636K|NLRP3_uc001icu.2_Missense_Mutation_p.E636K|NLRP3_uc001icw.2_Missense_Mutation_p.E636K|NLRP3_uc001icv.2_Missense_Mutation_p.E636K|NLRP3_uc010pyw.1_Missense_Mutation_p.E634K|NLRP3_uc001ict.1_Missense_Mutation_p.E634K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	636					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTTTGTACGAGATGCAGGA	0.478		NaN											0	0	0	1	0	20	30				
KLF6	1316	broad.mit.edu	37	10	3824148	3824148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:3824148G>A	uc001iha.2	-	2	628	c.361C>T	c.(361-363)CCC>TCC	p.P121S	KLF6_uc010qaj.1_Missense_Mutation_p.P121S|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.P121S|KLF6_uc001ihb.2_Missense_Mutation_p.P121S	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	121					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		TTGGCCGTGGGAGAAAGTTCC	0.532		NaN									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	45	93				
ATP5C1	509	broad.mit.edu	37	10	7844317	7844317	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:7844317C>T	uc001iju.2	+	7	800	c.722C>T	c.(721-723)TCT>TTT	p.S241F	ATP5C1_uc009xiq.1_Missense_Mutation_p.S241F|ATP5C1_uc010qbc.1_Missense_Mutation_p.S192F|ATP5C1_uc001ijv.2_Missense_Mutation_p.S241F	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	241					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						ATCTACTACTCTCTGAAGGAG	0.448		NaN											0	0	0	1	0	14	40				
PRPF18	8559	broad.mit.edu	37	10	13652044	13652044	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:13652044G>C	uc001imp.2	+	5	517	c.369G>C	c.(367-369)TTG>TTC	p.L123F	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	123					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						CTTAGGGATTGAGGAATGATT	0.383		NaN											0	0	0	1	0	23	62				
THNSL1	79896	broad.mit.edu	37	10	25312422	25312422	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25312422C>A	uc001isi.3	+	3	599	c.270C>A	c.(268-270)ATC>ATA	p.I90I	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	90					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	ATGATGATATCCTTGAAAAAA	0.383		NaN											1	0	1.06647e-15	1	1.11771e-15	38	73				
GPR158	57512	broad.mit.edu	37	10	25464862	25464862	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25464862C>G	uc001isj.2	+	1	573	c.513C>G	c.(511-513)ATC>ATG	p.I171M	LOC100128811_uc010qde.1_Missense_Mutation_p.E30D	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	171	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AGCCCAGCATCTCCCGGGCGG	0.647		NaN											0	0	0	1	0	18	36				
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:27048155G>A	uc001isx.2	-	9	1081	c.914C>T	c.(913-915)TCA>TTA	p.S305L	ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	305	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						ACCAGGAGCTGAGCCCGGGGC	0.498		NaN											0	0	0	1	0	14	47				
KIAA1462	57608	broad.mit.edu	37	10	30316005	30316005	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:30316005A>G	uc001iux.2	-	2	3131	c.3072T>C	c.(3070-3072)AGT>AGC	p.S1024S	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.S886S|KIAA1462_uc009xle.1_Silent_p.S1024S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1024										ovary(4)	4						TCTCTCCACCACTGTCAAACT	0.582		NaN											0	0	0	1	0	54	80				
HK1	3098	broad.mit.edu	37	10	71119661	71119661	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:71119661G>A	uc001jpl.3	+	3	336	c.235G>A	c.(235-237)GAT>AAT	p.D79N	HK1_uc001jpg.3_Missense_Mutation_p.D67N|HK1_uc001jph.3_Missense_Mutation_p.D83N|HK1_uc001jpi.3_Missense_Mutation_p.D83N|HK1_uc001jpj.3_Missense_Mutation_p.D114N|HK1_uc001jpk.3_Missense_Mutation_p.D78N|HK1_uc009xqd.2_Intron	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	79	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						AGAAAAGGGAGATTTCATTGC	0.483		NaN											0	0	0	1	0	32	53				
NPFFR1	64106	broad.mit.edu	37	10	72026099	72026099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:72026099C>T	uc010qjk.1	-	1	56	c.50G>A	c.(49-51)GGG>GAG	p.G17E		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	19	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						AGTGTTAGTCCCATTCTGACT	0.552		NaN											0	0	0	1	0	5	21				
CDH23	64072	broad.mit.edu	37	10	73553278	73553278	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:73553278C>A	uc001jrx.3	+	46	6970	c.6593C>A	c.(6592-6594)GCC>GAC	p.A2198D	CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2198	Cadherin 21.|Extracellular (Potential).			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AATATCACGGCCATTGACCAC	0.572		NaN											1	0	2.89027e-11	1	2.99713e-11	23	23				
OIT3	170392	broad.mit.edu	37	10	74684374	74684374	+	Missense_Mutation	SNP	G	G	A	rs139078371		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74684374G>A	uc001jte.1	+	7	1557	c.1339G>A	c.(1339-1341)GTC>ATC	p.V447I	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	447	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					GATCGACGAGGTCCTGAAATA	0.552		NaN											0	0	0	1	0	14	34				
ECD	11319	broad.mit.edu	37	10	74899248	74899248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74899248G>A	uc001jtn.2	-	11	1483	c.1240C>T	c.(1240-1242)CAG>TAG	p.Q414*	ECD_uc009xqx.2_Nonsense_Mutation_p.Q447*|ECD_uc009xqy.2_Nonsense_Mutation_p.Q371*|ECD_uc001jto.2_Nonsense_Mutation_p.Q113*	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	414					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)					TCTAACCACTGGTCATCTGAA	0.428		NaN											0	0	0	1	0	37	72				
LRIT2	340745	broad.mit.edu	37	10	85984111	85984111	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:85984111C>T	uc001kcy.2	-	2	878	c.870G>A	c.(868-870)CTG>CTA	p.L290L	LRIT2_uc010qmc.1_Silent_p.L290L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	290	Ig-like.					integral to membrane				ovary(2)	2						TCCACATACTCAGGGGATAAG	0.527		NaN											0	0	0	1	0	24	21				
PLCE1	51196	broad.mit.edu	37	10	96012152	96012152	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:96012152C>G	uc001kjk.2	+	9	3810	c.3176C>G	c.(3175-3177)CCC>CGC	p.P1059R	PLCE1_uc010qnx.1_Missense_Mutation_p.P1059R|PLCE1_uc001kjm.2_Missense_Mutation_p.P751R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1059					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GCTCGAAACCCCAGCCCCGGA	0.507		NaN											0	0	0	1	0	14	44				
TLX1	3195	broad.mit.edu	37	10	102894051	102894051	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:102894051G>A	uc001ksw.2	+	2	926	c.688G>A	c.(688-690)GAG>AAG	p.E230K		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	230	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGCCTCGGCCGAGCGCGCCGC	0.602		NaN	T	TRB@|TRD@	T-ALL								0	0	0	1	0	10	9				
LDB1	8861	broad.mit.edu	37	10	103868831	103868831	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103868831C>T	uc009xwz.2	-	10	1303	c.960G>A	c.(958-960)AAG>AAA	p.K320K	LDB1_uc001kuk.3_Silent_p.K284K|LDB1_uc001kul.3_Silent_p.K284K	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	320					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGCTCTTCTTCTTGCTGTTGC	0.592		NaN											0	0	0	1	0	22	37				
LDB1	8861	broad.mit.edu	37	10	103869736	103869736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103869736C>T	uc009xwz.2	-	7	933	c.590G>A	c.(589-591)TGG>TAG	p.W197*	LDB1_uc001kuk.3_Nonsense_Mutation_p.W161*|LDB1_uc001kul.3_Nonsense_Mutation_p.W161*	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	197					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCTGAAGTGCCACGTCTTTAT	0.602		NaN											0	0	0	1	0	18	38				
ABLIM1	3983	broad.mit.edu	37	10	116307492	116307492	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:116307492C>T	uc010qsg.1	-	5	816	c.717G>A	c.(715-717)CTG>CTA	p.L239L	ABLIM1_uc010qsh.1_Silent_p.L179L|ABLIM1_uc010qsi.1_Silent_p.L179L|ABLIM1_uc010qsk.1_Silent_p.L163L|ABLIM1_uc009xyp.2_Silent_p.L173L|ABLIM1_uc009xyo.2_Silent_p.L87L	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	239	LIM zinc-binding 3.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGCGCCAGCAGCGCCTGCC	0.552		NaN											0	0	0	1	0	12	19				
WDR11	55717	broad.mit.edu	37	10	122637962	122637962	+	Missense_Mutation	SNP	C	C	T	rs112914841		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:122637962C>T	uc010qtf.1	+	12	1892	c.1654C>T	c.(1654-1656)CTT>TTT	p.L552F	WDR11_uc010qte.1_Missense_Mutation_p.L154F|WDR11_uc001lfd.1_Missense_Mutation_p.L70F	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	552						integral to membrane					0						ACTGGTTGATCTTCCAACAGG	0.333		NaN											0	0	0	1	0	16	28				
TACC2	10579	broad.mit.edu	37	10	123846157	123846157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:123846157C>T	uc001lfv.2	+	4	4502	c.4142C>T	c.(4141-4143)TCC>TTC	p.S1381F	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S1381F|TACC2_uc010qtv.1_Missense_Mutation_p.S1381F	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1381						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGAGCCTTCCCAGGACCCA	0.612		NaN											0	0	0	1	0	18	32				
PSTK	118672	broad.mit.edu	37	10	124739930	124739930	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:124739930G>A	uc001lgy.1	+	1	375	c.-65G>A	c.(-67--63)GCGTG>GCATG			NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase								ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GACGCTGCGCGTGCGCGCAGG	0.692		NaN									OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	3	3				
UROS	7390	broad.mit.edu	37	10	127486691	127486691	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:127486691G>A	uc001liw.3	-	6	551	c.418C>T	c.(418-420)CTA>TTA	p.L140L	UROS_uc001liv.3_Silent_p.F19F|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Silent_p.L140L|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	140					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CAGGGAAATAGAAGAGGCAGT	0.507		NaN											0	0	0	1	0	25	40				
EBF3	253738	broad.mit.edu	37	10	131760444	131760444	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:131760444C>T	uc001lki.1	-	4	461	c.402G>A	c.(400-402)ATG>ATA	p.M134I	EBF3_uc010qur.1_3'UTR	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	134					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTGTTTGGTCATTGAATCTA	0.488		NaN											0	0	0	1	0	16	35				
HIPK3	10114	broad.mit.edu	37	11	33308756	33308756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33308756C>T	uc001mul.1	+	2	1066	c.796C>T	c.(796-798)CAG>TAG	p.Q266*	HIPK3_uc001mum.1_Nonsense_Mutation_p.Q266*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.Q266*	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	266	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TGAATGCTTTCAGCACCGTAA	0.368		NaN											0	0	0	1	0	6	87				
C11orf41	25758	broad.mit.edu	37	11	33605015	33605015	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33605015G>C	uc001mup.3	+	10	3785	c.3661G>C	c.(3661-3663)GAC>CAC	p.D1221H	C11orf41_uc001mun.1_Missense_Mutation_p.D1221H	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1215						integral to membrane				ovary(2)	2						CTTCAAGCCTGACACCATGAT	0.567		NaN											0	0	0	1	0	2	0				
PAMR1	25891	broad.mit.edu	37	11	35492234	35492234	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:35492234G>A	uc001mwg.2	-	5	670	c.627C>T	c.(625-627)AGC>AGT	p.S209S	PAMR1_uc001mwf.2_Silent_p.S209S|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.S169S	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	209	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						AGGATCCTATGCTCTGGATAG	0.522		NaN											0	0	0	1	0	15	14				
TNKS1BP1	85456	broad.mit.edu	37	11	57076110	57076110	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:57076110G>A	uc001njr.2	-	5	4387	c.4075C>T	c.(4075-4077)CCA>TCA	p.P1359S	TNKS1BP1_uc001njs.2_Missense_Mutation_p.P1359S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P810S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1359	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCTTCACTTGGAGCCCCAAAG	0.652		NaN											0	0	0	1	0	48	104				
RAB3IL1	5866	broad.mit.edu	37	11	61672126	61672126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:61672126G>A	uc001nso.2	-	7	949	c.791C>T	c.(790-792)TCG>TTG	p.S264L	RAB3IL1_uc001nsp.2_Missense_Mutation_p.S238L	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	264							protein binding			skin(2)|central_nervous_system(1)	3						TACCAGCACCGAGAGCTGTGG	0.692		NaN											0	0	0	1	0	3	10				
TUT1	64852	broad.mit.edu	37	11	62342673	62342673	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:62342673C>T	uc001nto.2	-	9	2670	c.2632G>A	c.(2632-2634)GAC>AAC	p.D878N	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.D374N	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	840					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						AGCATTCGGTCAGCCGGGGAG	0.567		NaN											0	0	0	1	0	28	46				
ATL3	25923	broad.mit.edu	37	11	63398817	63398817	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:63398817G>C	uc001nxk.1	-	12	1510	c.1234C>G	c.(1234-1236)CGT>GGT	p.R412G	ATL3_uc010rms.1_Missense_Mutation_p.R394G|ATL3_uc010rmr.1_Missense_Mutation_p.R70G	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	412	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						TGCTGGTAACGAAAGCTGAAA	0.463		NaN											0	0	0	1	0	39	60				
CCDC88B	283234	broad.mit.edu	37	11	64119604	64119604	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:64119604C>G	uc001nzy.2	+	19	3146	c.3102C>G	c.(3100-3102)GCC>GCG	p.A1034A	CCDC88B_uc009ypo.1_Silent_p.A1031A|CCDC88B_uc001oaa.2_Silent_p.A186A|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1034	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						CATCCTAGGCCGAGAAGTCTG	0.667		NaN											0	0	0	1	0	16	20				
CARNS1	57571	broad.mit.edu	37	11	67190990	67190990	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:67190990G>C	uc009yrp.2	+	9	1854	c.1402G>C	c.(1402-1404)GAT>CAT	p.D468H	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.D607H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	468					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCTCAAGCTAGATGGCTGCTT	0.627		NaN											0	0	0	1	0	10	15				
SHANK2	22941	broad.mit.edu	37	11	70349010	70349010	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:70349010G>A	uc001oqc.2	-	15	2166	c.2088C>T	c.(2086-2088)GTC>GTT	p.V696V	SHANK2_uc010rqn.1_Silent_p.V108V|SHANK2_uc001opz.2_Silent_p.V108V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.V108V|SHANK2_uc001opy.2_5'Flank|SHANK2_uc010rqo.1_5'Flank	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	317	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGTGGCCGACTTTGACAA	0.582		NaN											0	0	0	1	0	8	59				
DHCR7	1717	broad.mit.edu	37	11	71152464	71152464	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:71152464G>A	uc001oqk.2	-	6	685	c.435C>T	c.(433-435)ATC>ATT	p.I145I	DHCR7_uc001oql.2_Silent_p.I145I	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	145			I -> L (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	GCAGGCCATTGATCTGATACT	0.552		NaN							Smith-Lemli-Opitz_syndrome				0	0	0	1	0	17	18				
MAP6	4135	broad.mit.edu	37	11	75298823	75298823	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:75298823G>A	uc001owu.2	-	4	1788	c.1723C>T	c.(1723-1725)CCT>TCT	p.P575S		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	575	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GGGACCATAGGAGCTTGATTC	0.502		NaN											0	0	0	1	0	59	100				
CARD16	114769	broad.mit.edu	37	11	104912200	104912200	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:104912200T>C	uc001pip.1	-	3	548	c.521A>G	c.(520-522)CAT>CGT	p.H174R	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	174					regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						AGATCCTTTATGCAAGGGGAG	0.383		NaN											0	0	0	1	0	32	53				
ALKBH8	91801	broad.mit.edu	37	11	107427575	107427575	+	Missense_Mutation	SNP	C	C	T	rs150490382		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:107427575C>T	uc010rvr.1	-	3	359	c.284G>A	c.(283-285)AGA>AAA	p.R95K	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.R95K|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	95	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACATAGGCTCTCTTAGATTC	0.378		NaN											0	0	0	1	0	20	32				
C11orf65	160140	broad.mit.edu	37	11	108277655	108277655	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:108277655A>G	uc001pkh.2	-	5	334	c.264T>C	c.(262-264)TTT>TTC	p.F88F	C11orf65_uc010rvx.1_Silent_p.F39F|C11orf65_uc009yxu.1_RNA	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	88										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GTCTGTGAGTAAAAATCTTAT	0.313		NaN											0	0	0	1	0	25	32				
DIXDC1	85458	broad.mit.edu	37	11	111853158	111853158	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:111853158G>A	uc001pml.2	+	8	1162	c.865G>A	c.(865-867)GAA>AAA	p.E289K	DIXDC1_uc001pmm.2_Missense_Mutation_p.E78K|DIXDC1_uc001pmn.2_5'UTR	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	289	Potential.|Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GGAACAACAAGAATATTTAGA	0.423		NaN									OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	8	13				
CDON	50937	broad.mit.edu	37	11	125848278	125848278	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:125848278C>T	uc009zbw.2	-	18	3405	c.3277G>A	c.(3277-3279)GGT>AGT	p.G1093S	CDON_uc001qdb.3_Missense_Mutation_p.G470S|CDON_uc001qdc.3_Missense_Mutation_p.G1093S	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	1093	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATTCCACCACCCTGGACAGGA	0.443		NaN											0	0	0	1	0	4	10				
KCNJ1	3758	broad.mit.edu	37	11	128709869	128709869	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:128709869G>A	uc001qeo.1	-	2	378	c.327C>T	c.(325-327)CTC>CTT	p.L109L	KCNJ1_uc001qep.1_Silent_p.L90L|KCNJ1_uc001qeq.1_Silent_p.L90L|KCNJ1_uc001qer.1_Silent_p.L90L|KCNJ1_uc001qes.1_Silent_p.L90L	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	109	Extracellular (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GGAATTCCGGGAGGTCTTTGT	0.448		NaN											0	0	0	1	0	42	68				
ST14	6768	broad.mit.edu	37	11	130066285	130066285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:130066285G>T	uc001qfw.2	+	10	1358	c.1165G>T	c.(1165-1167)GAG>TAG	p.E389*	ST14_uc010sca.1_Nonsense_Mutation_p.E199*	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	389	CUB 2.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTACCTGCTGGAGCCCGGCGT	0.637		NaN											1	0	1.23904e-05	1	1.25394e-05	4	11				
NRIP2	83714	broad.mit.edu	37	12	2944131	2944131	+	Missense_Mutation	SNP	G	G	C	rs146664830		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:2944131G>C	uc001qlc.2	-	1	91	c.19C>G	c.(19-21)CTT>GTT	p.L7V	NRIP2_uc010sed.1_Missense_Mutation_p.L7V|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	7					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGAGGGAAAGAGGAAAAATA	0.562		NaN											0	0	0	1	0	15	23				
VWF	7450	broad.mit.edu	37	12	6161924	6161924	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:6161924C>T	uc001qnn.1	-	16	2221	c.1971G>A	c.(1969-1971)GTG>GTA	p.V657V	VWF_uc010set.1_Silent_p.V657V	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	657	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	ACTGCAGGTACACCTGGCCTT	0.597		NaN											0	0	0	1	0	11	26				
C1RL	51279	broad.mit.edu	37	12	7254567	7254567	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:7254567G>A	uc001qsn.2	-	3	434	c.417C>T	c.(415-417)TTC>TTT	p.F139F	C1RL_uc009zft.2_Silent_p.F139F|C1RL_uc001qso.1_Silent_p.F139F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	139	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GCTGTGTGCGGAAGGTCAGCC	0.627		NaN											0	0	0	1	0	50	76				
DUSP16	80824	broad.mit.edu	37	12	12630261	12630261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:12630261G>C	uc001rao.1	-	7	2136	c.1504C>G	c.(1504-1506)CCA>GCA	p.P502A	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.P354A	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	502					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CGATGCAGTGGAGATAAAAGG	0.587		NaN											0	0	0	1	0	37	58				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:20523043G>A	uc001reh.1	+	1	847	c.825G>A	c.(823-825)CTG>CTA	p.L275L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627		NaN											0	0	0	1	0	17	29				
OVCH1	341350	broad.mit.edu	37	12	29639199	29639199	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:29639199T>G	uc001rix.1	-	8	975	c.975A>C	c.(973-975)GGA>GGC	p.G325G		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	325	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTCTCTGGCTTCCATTCACTT	0.443		NaN											0	0	0	1	0	21	31				
CAPRIN2	65981	broad.mit.edu	37	12	30881858	30881858	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:30881858C>T	uc001rji.1	-	8	2257	c.1506G>A	c.(1504-1506)CAG>CAA	p.Q502Q	CAPRIN2_uc001rjf.1_Silent_p.Q299Q|CAPRIN2_uc001rjg.1_Silent_p.Q169Q|CAPRIN2_uc001rjh.1_Silent_p.Q502Q|CAPRIN2_uc001rjj.1_Silent_p.Q169Q|CAPRIN2_uc001rjk.3_Silent_p.Q502Q|CAPRIN2_uc001rjl.3_Silent_p.Q502Q|CAPRIN2_uc001rjm.1_Silent_p.Q169Q|CAPRIN2_uc001rjn.1_Silent_p.Q169Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	502					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTGTTCTTTCTGCAGCTGAA	0.473		NaN											0	0	0	1	0	55	75				
ARID2	196528	broad.mit.edu	37	12	46244139	46244139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:46244139C>T	uc001ros.1	+	15	2233	c.2233C>T	c.(2233-2235)CAG>TAG	p.Q745*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q745*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q201*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q372*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q79*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	745					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTGTTCAGAATCATAG	0.443		NaN											0	0	0	1	0	41	51		Valid		
RND1	27289	broad.mit.edu	37	12	49255809	49255809	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:49255809C>T	uc001rsn.2	-	3	404	c.301G>A	c.(301-303)GAC>AAC	p.D101N		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6 precursor	101					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1						AGTGCGCTGTCCACTGTCTCT	0.448		NaN											0	0	0	1	0	24	28				
PRPF40B	25766	broad.mit.edu	37	12	50036434	50036434	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:50036434C>T	uc001rur.1	+	20	2092	c.2028C>T	c.(2026-2028)TTC>TTT	p.F676F	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.F698F|PRPF40B_uc001ruq.1_Silent_p.F663F|PRPF40B_uc001rus.1_Silent_p.F619F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	676					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						TCCGGCTCTTCCGGGAGTTCC	0.567		NaN											0	0	0	1	0	16	22				
RARG	5916	broad.mit.edu	37	12	53607432	53607432	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607432G>A	uc001sce.2	-	8	1351	c.866C>T	c.(865-867)TCC>TTC	p.S289F	RARG_uc001scd.2_Missense_Mutation_p.S278F|RARG_uc010sob.1_Missense_Mutation_p.S267F|RARG_uc001scf.2_Missense_Mutation_p.S289F|RARG_uc001scg.2_Missense_Mutation_p.S217F|RARG_uc010soc.1_Missense_Mutation_p.S168F|RARG_uc010sod.1_Missense_Mutation_p.S326F	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	289	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCCCGTCGGAGAAGGTCAT	0.622		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	15	38				
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607867G>C	uc001sce.2	-	7	1274	c.789C>G	c.(787-789)CTC>CTG	p.L263L	RARG_uc001scd.2_Silent_p.L252L|RARG_uc010sob.1_Silent_p.L241L|RARG_uc001scf.2_Silent_p.L263L|RARG_uc001scg.2_Silent_p.L191L|RARG_uc010soc.1_Silent_p.L142L|RARG_uc010sod.1_Silent_p.L300L	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	263	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	66	136				
SMUG1	23583	broad.mit.edu	37	12	54576210	54576210	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:54576210G>C	uc001sff.1	-	4	612	c.483C>G	c.(481-483)GTC>GTG	p.V161V	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.V161V|SMUG1_uc009znf.1_Silent_p.V161V|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	161				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						ATAGATTGTGGACAAAACAGT	0.562		NaN						BER_DNA_glycosylases					0	0	0	1	0	34	74				
ERBB3	2065	broad.mit.edu	37	12	56490853	56490853	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56490853G>A	uc001sjh.2	+	20	2492	c.2299G>A	c.(2299-2301)GAC>AAC	p.D767N	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.D124N|ERBB3_uc010sqc.1_Missense_Mutation_p.D708N|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Missense_Mutation_p.D8N	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	767	Cytoplasmic (Potential).|Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGCAGCCTGGACCATGCCCA	0.512		NaN											0	0	0	1	0	29	35		Valid		
ANKRD52	283373	broad.mit.edu	37	12	56637606	56637606	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56637606C>T	uc001skm.3	-	27	3033	c.2943G>A	c.(2941-2943)CTG>CTA	p.L981L		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	981	ANK 28.						protein binding			ovary(2)	2						CCCCATGACTCAGCAGGGCCT	0.567		NaN											0	0	0	1	0	4	0				
STAC3	246329	broad.mit.edu	37	12	57637672	57637672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57637672C>T	uc001snp.2	-	12	1213	c.1018G>A	c.(1018-1020)GAA>AAA	p.E340K	STAC3_uc009zpl.2_Missense_Mutation_p.R57Q|STAC3_uc001snq.2_Missense_Mutation_p.E301K|STAC3_uc010srm.1_Missense_Mutation_p.E154K	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	340	SH3 2.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						CCGCCCGCTTCGTCTCCTTTC	0.562		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	4	16				
ARHGAP9	64333	broad.mit.edu	37	12	57870952	57870952	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57870952G>A	uc001sod.2	-	8	1263	c.1070C>T	c.(1069-1071)CCG>CTG	p.P357L	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.P102L|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soc.2_Missense_Mutation_p.P286L|ARHGAP9_uc001soe.1_Missense_Mutation_p.P365L|ARHGAP9_uc010sro.1_Missense_Mutation_p.P286L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	286					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGGTCAAGCGGTTCTGGGGT	0.522		NaN											0	0	0	1	0	21	41				
GNS	2799	broad.mit.edu	37	12	65130795	65130795	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:65130795G>C	uc001ssg.3	-	9	1257	c.1087C>G	c.(1087-1089)CAG>GAG	p.Q363E	GNS_uc001ssf.2_Missense_Mutation_p.Q307E|GNS_uc010ssq.1_Missense_Mutation_p.Q395E|GNS_uc010ssr.1_Missense_Mutation_p.Q343E	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	363						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TTGCTTGTCTGATTTGGTTTG	0.453		NaN											0	0	0	1	0	14	27				
ZFC3H1	196441	broad.mit.edu	37	12	72024481	72024481	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:72024481G>C	uc001swo.2	-	18	3982	c.3623C>G	c.(3622-3624)ACA>AGA	p.T1208R		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1208					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TCGGCTAAGTGTATAGTCTTG	0.318		NaN											0	0	0	1	0	14	30				
C12orf26	84190	broad.mit.edu	37	12	82752565	82752565	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:82752565C>T	uc001szq.2	+	1	242	c.221C>T	c.(220-222)TCA>TTA	p.S74L	CCDC59_uc001szp.3_5'Flank	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	74											0						GCCCTGCCCTCAGAGACGCGC	0.662		NaN									OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	23	38				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452766	100452766	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:100452766C>T	uc001tgq.2	-	14	2518	c.2289G>A	c.(2287-2289)TTG>TTA	p.L763L	UHRF1BP1L_uc001tgp.2_Silent_p.L413L	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	763										ovary(2)	2						TCTTCCGCTTCAATCGGCCAG	0.403		NaN											0	0	0	1	0	47	59				
CHPT1	56994	broad.mit.edu	37	12	102107962	102107962	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:102107962C>T	uc001tin.2	+	2	591	c.368C>T	c.(367-369)TCT>TTT	p.S123F	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.S123F	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	123					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						AGAACAAACTCTTGTTCCCCT	0.378		NaN											0	0	0	1	0	37	95				
CKAP4	10970	broad.mit.edu	37	12	106633728	106633728	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:106633728C>T	uc001tlk.2	-	2	967	c.883G>A	c.(883-885)GAG>AAG	p.E295K		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						GTCTGTATCTCCTTCACAGCT	0.517		NaN											0	0	0	1	0	35	86				
ALKBH2	121642	broad.mit.edu	37	12	109530580	109530580	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:109530580G>A	uc001tnx.2	-	2	405	c.12C>T	c.(10-12)TTC>TTT	p.F4F	ALKBH2_uc001tny.2_Silent_p.F4F|ALKBH2_uc010sxj.1_Silent_p.F4F|ALKBH2_uc009zvd.2_Silent_p.F4F|ALKBH2_uc010sxk.1_Silent_p.F4F	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN	AlkB homolog 2	4					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CTTTCACCAGGAATCTGTCCA	0.522		NaN						Direct_reversal_of_damage					0	0	0	1	0	39	83				
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:111951193G>A	uc001tsj.2	-	11	2168	c.2006C>T	c.(2005-2007)TCG>TTG	p.S669L	ATXN2_uc001tsh.2_Missense_Mutation_p.S404L|ATXN2_uc001tsi.2_Missense_Mutation_p.S380L|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S404L	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CGTTCCCCCCGAGGGACTGGT	0.512		NaN											0	0	0	1	0	19	32				
DTX1	1840	broad.mit.edu	37	12	113515257	113515257	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:113515257C>T	uc001tuk.1	+	2	624	c.288C>T	c.(286-288)TTC>TTT	p.F96F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	96	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGCGCAACTTCTACGACCCGT	0.672		NaN											0	0	0	1	0	13	26				
VPS37B	79720	broad.mit.edu	37	12	123353041	123353041	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:123353041C>G	uc001udl.2	-	3	455	c.352G>C	c.(352-354)GAG>CAG	p.E118Q		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	118	VPS37 C-terminal.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTGTCTTCCTCAATCTTGGCC	0.557		NaN											0	0	0	1	0	4	14				
PIWIL1	9271	broad.mit.edu	37	12	130839176	130839176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:130839176C>G	uc001uik.2	+	10	1229	c.1139C>G	c.(1138-1140)GCC>GGC	p.A380G	PIWIL1_uc001uij.1_Missense_Mutation_p.A380G	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	380	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAGGGCCTGCCATGCTCATT	0.537		NaN											0	0	0	1	0	36	79				
THSD1	55901	broad.mit.edu	37	13	52952424	52952424	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:52952424C>G	uc001vgo.2	-	5	2226	c.1681G>C	c.(1681-1683)GAC>CAC	p.D561H	THSD1_uc001vgp.2_Missense_Mutation_p.D508H|THSD1_uc010tgz.1_Missense_Mutation_p.D182H|THSD1_uc010aea.2_Missense_Mutation_p.D22H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	561	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCAGTGTCTGTCAGGGGA	0.522		NaN											0	0	0	1	0	72	30				
SLITRK5	26050	broad.mit.edu	37	13	88328436	88328436	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:88328436G>A	uc001vln.2	+	2	1012	c.793G>A	c.(793-795)GAG>AAG	p.E265K	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	265	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTAGTTTGTGAGACCCCCTT	0.512		NaN											0	0	0	1	0	38	61				
GPC5	2262	broad.mit.edu	37	13	92345823	92345823	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:92345823C>G	uc010tif.1	+	3	1074	c.708C>G	c.(706-708)ATC>ATG	p.I236M		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	236						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGAAGTCATCAACACCACAG	0.532		NaN											0	0	0	1	0	24	40				
DOCK9	23348	broad.mit.edu	37	13	99532219	99532219	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:99532219G>A	uc001vnt.2	-	27	2934	c.2879C>T	c.(2878-2880)TCA>TTA	p.S960L	DOCK9_uc001vnw.2_Missense_Mutation_p.S959L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.S960L|DOCK9_uc010tis.1_Missense_Mutation_p.S959L|DOCK9_uc010tit.1_Missense_Mutation_p.S960L|DOCK9_uc010afu.1_Missense_Mutation_p.S806L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	960					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAAACCATGAGTACTAAAA	0.239		NaN											0	0	0	1	0	15	29				
ERCC5	2073	broad.mit.edu	37	13	103468829	103468829	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:103468829G>A	uc001vpu.1	+	2	652	c.530G>A	c.(529-531)AGA>AAA	p.R177K	BIVM_uc001vps.2_Missense_Mutation_p.R177K|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.R177K	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAAAGGGAAGATATCAGAAG	0.328		NaN	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	21	30				
MYO16	23026	broad.mit.edu	37	13	109507866	109507866	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:109507866G>A	uc001vqt.1	+	11	1384	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K	MYO16_uc010agk.1_Missense_Mutation_p.E442K|MYO16_uc001vqu.1_Missense_Mutation_p.E220K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	420	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCTCTATGAGATTCAGAA	0.478		NaN											0	0	0	1	0	14	13				
CARS2	79587	broad.mit.edu	37	13	111357910	111357910	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:111357910C>T	uc001vrd.2	-	2	273	c.233G>A	c.(232-234)TGT>TAT	p.C78Y	CARS2_uc010tjm.1_Intron	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	78		Zinc (By similarity).			cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGTTGGTCCACAGCTATACCT	0.353		NaN											0	0	0	1	0	12	29				
HEATR5A	25938	broad.mit.edu	37	14	31782285	31782285	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:31782285C>T	uc001wrf.3	-	22	3528	c.3451G>A	c.(3451-3453)GAC>AAC	p.D1151N	HEATR5A_uc010ami.2_Missense_Mutation_p.D1049N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1438							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGACTAAGTCAAGCAGTCCA	0.428		NaN											0	0	0	1	0	37	30				
ARHGAP5	394	broad.mit.edu	37	14	32624002	32624002	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:32624002G>A	uc001wrl.2	+	7	4596	c.4357G>A	c.(4357-4359)GAA>AAA	p.E1453K	ARHGAP5_uc001wrm.2_Missense_Mutation_p.E1452K|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E1453K|ARHGAP5_uc001wro.2_Missense_Mutation_p.E192K|ARHGAP5_uc001wrp.2_Missense_Mutation_p.E188K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1453					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTACAATGGAGAAATTGTAGA	0.418		NaN											0	0	0	1	0	26	11				
C14orf135	64430	broad.mit.edu	37	14	60591527	60591527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:60591527C>G	uc001xer.3	+	8	2458	c.1936C>G	c.(1936-1938)CTA>GTA	p.L646V	C14orf135_uc001xeq.2_Missense_Mutation_p.L646V|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	880						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CAAAGCAGTTCTATTAGGATA	0.408		NaN											0	0	0	1	0	67	52				
HIF1A	3091	broad.mit.edu	37	14	62200933	62200933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:62200933C>T	uc001xfq.2	+	8	1362	c.958C>T	c.(958-960)CAA>TAA	p.Q320*	HIF1A_uc001xfr.2_Nonsense_Mutation_p.Q320*|HIF1A_uc001xfs.2_Nonsense_Mutation_p.Q321*	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	320	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GGTTGAAACTCAAGCAACTGT	0.383		NaN											0	0	0	1	0	19	5				
SYNE2	23224	broad.mit.edu	37	14	64453240	64453240	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:64453240G>A	uc001xgm.2	+	19	2448	c.2218G>A	c.(2218-2220)GAA>AAA	p.E740K	SYNE2_uc001xgl.2_Missense_Mutation_p.E740K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	740	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAGATGTTGAAAAACTCAT	0.388		NaN											0	0	0	1	0	14	24				
ZFYVE26	23503	broad.mit.edu	37	14	68238913	68238913	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:68238913G>A	uc001xka.2	-	28	5474	c.5335C>T	c.(5335-5337)CAT>TAT	p.H1779Y	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1779Y	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1779					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTAGGGGAATGTATACTGGAG	0.428		NaN											0	0	0	1	0	8	3				
ZFYVE1	53349	broad.mit.edu	37	14	73444931	73444931	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:73444931C>T	uc001xnm.2	-	7	2071	c.1431G>A	c.(1429-1431)GAG>GAA	p.E477E	ZFYVE1_uc001xnl.2_Silent_p.E62E|ZFYVE1_uc010arj.2_Silent_p.E477E	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	477						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTCGCCTCTCTCATAGCAGG	0.363		NaN											0	0	0	1	0	22	18				
FOS	2353	broad.mit.edu	37	14	75747770	75747770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:75747770G>T	uc001xrn.2	+	4	991	c.786G>T	c.(784-786)ATG>ATT	p.M262I	FOS_uc010tva.1_Missense_Mutation_p.M226I|FOS_uc010asi.2_Missense_Mutation_p.M148I|FOS_uc001xro.2_Missense_Mutation_p.M114I	NM_005252	NP_005243	P01100	FOS_HUMAN	v-fos FBJ murine osteosarcoma viral oncogene	262					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|ovary(1)	3		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TCAGCAGCATGGAGCTGAAGA	0.597		NaN											1	0	3.62531e-18	1	3.80625e-18	37	28				
FLVCR2	55640	broad.mit.edu	37	14	76107307	76107307	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:76107307G>A	uc001xrs.2	+	7	1621	c.1245G>A	c.(1243-1245)ATG>ATA	p.M415I	FLVCR2_uc010tvd.1_Missense_Mutation_p.M210I	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	415	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTTCTTTATGACTGGCTATC	0.522		NaN											0	0	0	1	0	14	20				
ADCK1	57143	broad.mit.edu	37	14	78325484	78325484	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:78325484G>A	uc001xui.2	+	4	384	c.285G>A	c.(283-285)AAG>AAA	p.K95K	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	102						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTTCATCAAGGTGGGCCAGC	0.617		NaN											0	0	0	1	0	28	27				
PTPN21	11099	broad.mit.edu	37	14	88974366	88974366	+	Splice_Site	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:88974366T>C	uc001xwv.3	-	4	682	c.351_splice	c.e4-1	p.R117_splice	PTPN21_uc010twc.1_Splice_Site|PTPN21_uc010atf.1_Splice_Site_p.R117_splice	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TACTGATACCTATAAAAAATG	0.338		NaN											0	0	0	1	0	10	6				
CCDC88C	440193	broad.mit.edu	37	14	91806270	91806270	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:91806270G>A	uc010aty.2	-	7	681	c.582C>T	c.(580-582)CTC>CTT	p.L194L	CCDC88C_uc010twk.1_Silent_p.L158L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	194					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TCCGCAGGTGGAGCACCATGC	0.662		NaN											0	0	0	1	0	6	2				
EXD1	161829	broad.mit.edu	37	15	41482260	41482260	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:41482260C>T	uc001znk.2	-	9	948	c.757G>A	c.(757-759)GCT>ACT	p.A253T	EXD1_uc001znj.2_Missense_Mutation_p.A51T|EXD1_uc010ucv.1_Missense_Mutation_p.A311T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	253					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						AGGTAGGTAGCTTCCAGGGCC	0.463		NaN											0	0	0	1	0	37	12				
PLA2G4F	255189	broad.mit.edu	37	15	42434263	42434263	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:42434263G>A	uc001zoz.2	-	20	2532	c.2469C>T	c.(2467-2469)GTC>GTT	p.V823V	PLA2G4F_uc010bcq.2_Silent_p.V120V|PLA2G4F_uc001zoy.2_Silent_p.V455V|PLA2G4F_uc010bcr.2_Silent_p.V574V|PLA2G4F_uc001zpa.2_Silent_p.V574V|PLA2G4F_uc010bcs.2_Silent_p.V610V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	823	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGTTGTTCAGGACGTTGTATC	0.597		NaN											0	0	0	1	0	25	13				
SPG11	80208	broad.mit.edu	37	15	44876484	44876484	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:44876484C>G	uc001ztx.2	-	30	5425	c.5394G>C	c.(5392-5394)GAG>GAC	p.E1798D	SPG11_uc010bdw.2_Missense_Mutation_p.E87D|SPG11_uc010ueh.1_Missense_Mutation_p.E1798D|SPG11_uc010uei.1_Missense_Mutation_p.E1798D|SPG11_uc001zty.1_Missense_Mutation_p.E527D	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1798	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGATCTGCTTCTCCAGCTCCT	0.567		NaN											0	0	0	1	0	16	18				
SNX22	79856	broad.mit.edu	37	15	64445876	64445876	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:64445876G>A	uc002anc.1	+	5	444	c.385G>A	c.(385-387)GAC>AAC	p.D129N	SNX22_uc002amz.1_Missense_Mutation_p.D101N|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	129					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCTGCCTGGCGACAGCAGGCA	0.647		NaN									OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	21	16				
DPP8	54878	broad.mit.edu	37	15	65759415	65759415	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:65759415G>A	uc002aov.2	-	13	3309	c.1731C>T	c.(1729-1731)ATC>ATT	p.I577I	DPP8_uc002aow.2_Silent_p.I577I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.I561I|DPP8_uc002aoy.2_Silent_p.I577I|DPP8_uc002aoz.2_Silent_p.I561I|DPP8_uc010bhj.2_Silent_p.I577I|DPP8_uc002apa.2_Silent_p.I474I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Silent_p.I146I	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	577					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						ATACCTGACTGATGCAGCAAG	0.408		NaN											0	0	0	1	0	12	11				
MYO9A	4649	broad.mit.edu	37	15	72186109	72186109	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:72186109C>T	uc002atl.3	-	26	5526	c.5053G>A	c.(5053-5055)GAA>AAA	p.E1685K	MYO9A_uc002atn.1_Missense_Mutation_p.E1666K|MYO9A_uc002atk.2_Missense_Mutation_p.E409K|MYO9A_uc002atm.1_Missense_Mutation_p.E409K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1685	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TTTAAGGCTTCTTTGCTGACA	0.378		NaN											0	0	0	1	0	11	10				
CSK	1445	broad.mit.edu	37	15	75091647	75091647	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:75091647G>A	uc010bkb.1	+	6	460	c.277G>A	c.(277-279)GAG>AAG	p.E93K	CSK_uc002ays.2_Missense_Mutation_p.E93K|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	93	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GGAGCAGGCTGAGCGGCTTCT	0.632		NaN											0	0	0	1	0	11	16				
ADAMTS7	11173	broad.mit.edu	37	15	79063930	79063930	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:79063930G>A	uc002bej.3	-	15	2584	c.2373C>T	c.(2371-2373)ATC>ATT	p.I791I	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.I791I	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	791	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CAGGCACCTGGATCCAGACAG	0.657		NaN											0	0	0	1	0	7	4				
ACAN	176	broad.mit.edu	37	15	89386642	89386642	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:89386642G>A	uc010upo.1	+	6	1188	c.814G>A	c.(814-816)GAG>AAG	p.E272K	ACAN_uc002bmx.2_Missense_Mutation_p.E272K|ACAN_uc010upp.1_Missense_Mutation_p.E272K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	272					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAGCCAATGAGTGCCGGCG	0.642		NaN											0	0	0	1	0	12	11				
C15orf42	90381	broad.mit.edu	37	15	90119460	90119460	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90119460G>A	uc002boe.2	+	1	643	c.643G>A	c.(643-645)GAA>AAA	p.E215K		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	215					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGATACCACCGAATGGTCTAA	0.542		NaN											0	0	0	1	0	10	11				
CIB1	10519	broad.mit.edu	37	15	90774617	90774617	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90774617G>A	uc002bpb.3	-	4	480	c.318C>T	c.(316-318)ATC>ATT	p.I106I	C15orf58_uc002bpc.2_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	calcium and integrin binding 1	106	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AATGGGACTTGATGTCTGGCG	0.572		NaN											0	0	0	1	0	14	12				
LINS1	55180	broad.mit.edu	37	15	101109805	101109805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:101109805C>G	uc002bwe.2	-	8	2203	c.1912G>C	c.(1912-1914)GAA>CAA	p.E638Q	LINS1_uc002bwd.2_Missense_Mutation_p.E225Q|LINS1_uc002bwf.2_Missense_Mutation_p.E638Q|LINS1_uc002bwg.2_Missense_Mutation_p.E638Q|LINS1_uc002bwh.2_Missense_Mutation_p.E638Q	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	638											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TCTGTGGATTCCACGTCAGAA	0.493		NaN											0	0	0	1	0	40	24				
SRRM2	23524	broad.mit.edu	37	16	2812478	2812478	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:2812478G>A	uc002crk.2	+	11	2498	c.1949G>A	c.(1948-1950)AGA>AAA	p.R650K	SRRM2_uc002crj.1_Missense_Mutation_p.R554K|SRRM2_uc002crl.1_Missense_Mutation_p.R650K|SRRM2_uc010bsu.1_Missense_Mutation_p.R554K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	650	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCACGCTCTAGAACCCCAGCT	0.612		NaN											0	0	0	1	0	34	51				
ZNF263	10127	broad.mit.edu	37	16	3340089	3340089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:3340089C>T	uc002cuq.2	+	6	1915	c.1583C>T	c.(1582-1584)TCT>TTT	p.S528F	ZNF263_uc010uww.1_Missense_Mutation_p.S176F|ZNF263_uc002cur.2_Missense_Mutation_p.S176F	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	528	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						AAAAGTTTCTCTCGGAGTTCA	0.507		NaN											0	0	0	1	0	10	34				
ERCC4	2072	broad.mit.edu	37	16	14042169	14042169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14042169G>C	uc002dce.2	+	11	2725	c.2716G>C	c.(2716-2718)GCA>CCA	p.A906P	ERCC4_uc010uyz.1_Missense_Mutation_p.A456P	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	906	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						CACCTCTTTTGCAGAAGTCGT	0.448		NaN	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	35	58				
BFAR	51283	broad.mit.edu	37	16	14738279	14738279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14738279C>T	uc002dco.2	+	2	357	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	BFAR_uc002dcm.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcn.2_Nonsense_Mutation_p.Q26*|BFAR_uc002dcp.2_Nonsense_Mutation_p.Q26*|BFAR_uc010uzh.1_5'UTR	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	26	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						CACCGGCCCTCAGATTTCTGT	0.493		NaN											0	0	0	1	0	40	63				
C16orf62	57020	broad.mit.edu	37	16	19619564	19619564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:19619564G>C	uc002dgn.1	+	10	861	c.849G>C	c.(847-849)AAG>AAC	p.K283N	C16orf62_uc002dgo.1_Missense_Mutation_p.K283N|C16orf62_uc002dgp.1_Missense_Mutation_p.K32N|C16orf62_uc010vas.1_Missense_Mutation_p.K157N|C16orf62_uc002dgm.1_Missense_Mutation_p.K283N	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	283						integral to membrane				ovary(1)	1						GGTTTTTCAAGATTGCCTCCA	0.353		NaN											0	0	0	1	0	23	52				
LOC81691	81691	broad.mit.edu	37	16	20837242	20837242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:20837242G>A	uc002dhv.2	+	8	1056	c.793G>A	c.(793-795)GAA>AAA	p.E265K	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.E265K|LOC81691_uc002dhw.2_Missense_Mutation_p.E8K|LOC81691_uc002dhy.3_Missense_Mutation_p.E265K	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	265	Exonuclease.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						GGTCAAACCTGAAAACAAGAT	0.473		NaN											0	0	0	1	0	5	13				
CRYM	1428	broad.mit.edu	37	16	21272618	21272618	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21272618C>T	uc002dik.2	-	7	922	c.837G>A	c.(835-837)GTG>GTA	p.V279V	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.V237V|CRYM_uc002dim.2_Silent_p.V279V	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	279					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	GGGCTGGTTTCACTCCCTTAA	0.517		NaN											0	0	0	1	0	14	26				
OTOA	146183	broad.mit.edu	37	16	21721355	21721355	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21721355C>T	uc002djh.2	+	12	1252	c.1251C>T	c.(1249-1251)CTC>CTT	p.L417L	uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L338L|OTOA_uc002dji.2_Silent_p.L93L|OTOA_uc010vbk.1_Silent_p.L65L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	431					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		TCTCCACCCTCAACCAGGTCT	0.517		NaN											0	0	0	1	0	13	23				
HS3ST2	9956	broad.mit.edu	37	16	22826363	22826363	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:22826363C>T	uc002dli.2	+	1	504	c.432C>T	c.(430-432)GGC>GGT	p.G144G	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	144	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GGGCCTTGGGCACGGAACCCC	0.647		NaN											0	0	0	1	0	10	16				
COG7	91949	broad.mit.edu	37	16	23400346	23400346	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:23400346G>A	uc002dlo.2	-	17	2396	c.2208C>T	c.(2206-2208)ATC>ATT	p.I736I		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	736					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		GTAGCGTCACGATGTGCTGGA	0.617		NaN											0	0	0	1	0	16	17				
KIAA0556	23247	broad.mit.edu	37	16	27751476	27751476	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:27751476G>A	uc002dow.2	+	15	1882	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	620	Potential.									ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CATCCTGGTTGACCAGAAGAA	0.527		NaN											0	0	0	1	0	27	66				
TUFM	7284	broad.mit.edu	37	16	28857543	28857543	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:28857543G>A	uc002drh.2	-	1	187	c.48C>T	c.(46-48)TTC>TTT	p.F16F	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	13						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						ACTCACCGCTGAAGTGGGGCG	0.687		NaN											0	0	0	1	0	3	6				
INO80E	283899	broad.mit.edu	37	16	30012320	30012320	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30012320C>T	uc002dvg.1	+	5	456	c.355C>T	c.(355-357)CCC>TCC	p.P119S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.P119S|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.P119S	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	119	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1						AACAGGGTTTCCCCTTCAGGC	0.637		NaN											0	0	0	1	0	10	21				
DCTPP1	79077	broad.mit.edu	37	16	30440456	30440456	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30440456C>T	uc002dyf.2	-	2	206	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	ZNF771_uc010bzx.2_RNA	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	45	EAR.				nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding				0						TTCCCAGTCTCGTTCCGCAGC	0.483		NaN											0	0	0	1	0	21	53				
ADCY7	113	broad.mit.edu	37	16	50335123	50335123	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:50335123C>T	uc002egd.1	+	9	1634	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	ADCY7_uc002egb.1_Missense_Mutation_p.R456W|ADCY7_uc002egc.1_Missense_Mutation_p.R456W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	456	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CATCGACCCCCGGGTACGAGG	0.682		NaN											0	0	0	1	0	4	5				
CHD9	80205	broad.mit.edu	37	16	53301296	53301296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:53301296G>A	uc002ehb.2	+	20	4575	c.4411G>A	c.(4411-4413)GAA>AAA	p.E1471K	CHD9_uc002egy.2_Missense_Mutation_p.E1471K|CHD9_uc002ehc.2_Missense_Mutation_p.E1471K|CHD9_uc002ehf.2_Missense_Mutation_p.E585K|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Missense_Mutation_p.E997K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1471					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ATCTGAAGCTGAAAGTGAAGG	0.413		NaN											0	0	0	1	0	27	34				
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:58621779G>A	uc002env.2	-	4	507	c.214C>T	c.(214-216)CAG>TAG	p.Q72*	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q72*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q72*|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353		NaN											0	0	0	1	0	20	35				
SLC9A5	6553	broad.mit.edu	37	16	67291253	67291253	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67291253G>C	uc002esm.2	+	8	1404	c.1341G>C	c.(1339-1341)TTG>TTC	p.L447F	SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	447	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CATAGGGCTTGACCATCAAGC	0.542		NaN											0	0	0	1	0	16	54				
ACD	65057	broad.mit.edu	37	16	67694244	67694244	+	Silent	SNP	A	A	G	rs2303761		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67694244A>G	uc002etq.3	-	1	475	c.138T>C	c.(136-138)CGT>CGC	p.R46R	ACD_uc002etp.3_Silent_p.R46R|ACD_uc002etr.3_Silent_p.R46R|ACD_uc010vjt.1_Silent_p.R36R|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	46					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCCCGCCCACGTACACCCC	0.736		NaN											0	0	0	1	0	6	12				
C16orf86	388284	broad.mit.edu	37	16	67702120	67702120	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67702120C>T	uc002ety.2	+	4	728	c.571C>T	c.(571-573)CGG>TGG	p.R191W	C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.2_RNA	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	hypothetical protein LOC388284	191											0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCAGCGCCTGCGGCCGCTGTA	0.657		NaN									OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	9	10				
TERF2	7014	broad.mit.edu	37	16	69419340	69419340	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69419340C>T	uc002exd.2	-	2	428	c.303G>A	c.(301-303)CTG>CTA	p.L101L	TERF2_uc002exe.2_Silent_p.L101L	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	101	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				GCATAACCCGCAGCAATCGGG	0.532		NaN											0	0	0	1	0	20	42				
CYB5B	80777	broad.mit.edu	37	16	69458758	69458758	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69458758G>A	uc002exg.1	+	1	261	c.172G>A	c.(172-174)GAG>AAG	p.E58K	CYB5B_uc002exf.2_Missense_Mutation_p.E58K|CYB5B_uc010cfl.1_Missense_Mutation_p.E58K	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane	54	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)				CTTCCTCAACGAGGTGGGGCC	0.602		NaN											0	0	0	1	0	15	29				
NFAT5	10725	broad.mit.edu	37	16	69687308	69687308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69687308C>T	uc002exm.1	+	4	2136	c.928C>T	c.(928-930)CAG>TAG	p.Q310*	NFAT5_uc002exh.1_Nonsense_Mutation_p.Q104*|NFAT5_uc002exi.2_Nonsense_Mutation_p.Q234*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q234*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q328*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q328*	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	310	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGATAGAACACAGCAAGGCTT	0.398		NaN											0	0	0	1	0	14	37				
KIAA0174	9798	broad.mit.edu	37	16	71961660	71961660	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:71961660G>C	uc002fbj.1	+	12	1367	c.1084G>C	c.(1084-1086)GAC>CAC	p.D362H	KIAA0174_uc010cgh.1_Missense_Mutation_p.D362H|KIAA0174_uc002fbk.1_Missense_Mutation_p.K347N|KIAA0174_uc002fbm.1_Missense_Mutation_p.D349H|KIAA0174_uc002fbl.1_Missense_Mutation_p.D318H|KIAA0174_uc002fbn.1_Missense_Mutation_p.D201H|KIAA0174_uc010cgi.1_Missense_Mutation_p.D120H|KIAA0174_uc010cgj.1_Missense_Mutation_p.D266H|KIAA0174_uc010vml.1_RNA			P53990	IST1_HUMAN	SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;	347	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1						AGCATCTGAAGACATTGACTT	0.458		NaN											0	0	0	1	0	67	125				
RFWD3	55159	broad.mit.edu	37	16	74685896	74685896	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:74685896C>T	uc002fda.2	-	3	741	c.643G>A	c.(643-645)GAT>AAT	p.D215N	RFWD3_uc010cgq.2_Missense_Mutation_p.D215N	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	215					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						CTGTCAGAATCAGAACTACTA	0.478		NaN											0	0	0	1	0	34	61				
CMIP	80790	broad.mit.edu	37	16	81739167	81739167	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:81739167T>C	uc002fgp.2	+	19	2227	c.2155T>C	c.(2155-2157)TGC>CGC	p.C719R	CMIP_uc002fgq.1_Missense_Mutation_p.C625R|CMIP_uc010vnq.1_Missense_Mutation_p.C532R|CMIP_uc002fgr.1_Missense_Mutation_p.C566R	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	685	LRR 3.					cytoplasm|nucleus					0						GCTGAACCTGTGCGAGACCCC	0.637		NaN											0	0	0	1	0	6	9				
CDH15	1013	broad.mit.edu	37	16	89261279	89261279	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:89261279G>A	uc002fmt.2	+	14	2238	c.2161G>A	c.(2161-2163)GCT>ACT	p.A721T		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	721	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTTGGAGGCTGCAGATAG	0.637		NaN											0	0	0	1	0	3	8				
KIAA0664	23277	broad.mit.edu	37	17	2604800	2604800	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:2604800C>T	uc002fuy.1	-	6	731	c.645G>A	c.(643-645)CTG>CTA	p.L215L	KIAA0664_uc002fux.1_Silent_p.L147L	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	215							binding			breast(2)	2						TGAGTACTTTCAGGCACTGCA	0.662		NaN											0	0	0	1	0	10	7				
INCA1	388324	broad.mit.edu	37	17	4892128	4892128	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:4892128C>G	uc002gaj.2	-	7	959	c.507G>C	c.(505-507)GAG>GAC	p.E169D	CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.E169D|INCA1_uc002gal.2_Missense_Mutation_p.E154D|INCA1_uc002gam.2_Missense_Mutation_p.E154D	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein	169						nucleus					0						AGGTTGCTCTCTCCTCTTCCA	0.582		NaN											0	0	0	1	0	19	10				
DHX33	56919	broad.mit.edu	37	17	5372147	5372147	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5372147C>T	uc002gca.2	-	1	35	c.33G>A	c.(31-33)AAG>AAA	p.K11K	DHX33_uc002gcb.2_5'UTR|DHX33_uc010clf.2_Silent_p.K11K	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	11						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GCCGGAATCTCTTGGCCGGCG	0.721		NaN											0	0	0	1	0	2	0				
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5440230C>A	uc002gci.2	-	8	3456	c.2901G>T	c.(2899-2901)ATG>ATT	p.M967I	NLRP1_uc002gcg.1_Missense_Mutation_p.M967I|NLRP1_uc002gck.2_Missense_Mutation_p.M967I|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Missense_Mutation_p.M967I|NLRP1_uc010clh.2_Missense_Mutation_p.M967I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	967	LRR 6.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622		NaN											1	0	5.50884e-06	1	5.59432e-06	12	12				
USP43	124739	broad.mit.edu	37	17	9580108	9580108	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:9580108C>T	uc010cod.2	+	5	879	c.879C>T	c.(877-879)TTC>TTT	p.F293F	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.F293F|USP43_uc010coe.2_Silent_p.F90F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	293					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCCAGCGGTTCCTGCGGGTTG	0.557		NaN											0	0	0	1	0	8	4				
RICH2	9912	broad.mit.edu	37	17	12860053	12860053	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:12860053C>T	uc002gnr.3	+	15	1659	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F	RICH2_uc010vvk.1_Silent_p.F444F|RICH2_uc010vvl.1_Silent_p.F444F|RICH2_uc002gns.3_Silent_p.F244F|RICH2_uc010vvm.1_Silent_p.F444F|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Silent_p.F167F	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	444	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						CAGACTGGTTCTTCCCTGGGG	0.522		NaN											0	0	0	1	0	8	12				
FAM83G	644815	broad.mit.edu	37	17	18874745	18874745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:18874745G>A	uc002guw.2	-	6	2566	c.2399C>T	c.(2398-2400)ACG>ATG	p.T800M	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	800								p.T800T(1)		ovary(1)|central_nervous_system(1)	2						GCTACCGCCCGTCCTGGCCTT	0.637		NaN											0	0	0	1	0	42	34				
STAC2	342667	broad.mit.edu	37	17	37381683	37381683	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37381683C>T	uc002hrs.2	-	1	292	c.73G>A	c.(73-75)GCC>ACC	p.A25T	STAC2_uc010cvt.2_5'UTR	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	25					intracellular signal transduction		metal ion binding			pancreas(1)	1						TCCTGGAGGGCGGAGACGGTC	0.602		NaN											0	0	0	1	0	11	10				
CDK12	51755	broad.mit.edu	37	17	37619354	37619354	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37619354C>T	uc010cvv.2	+	1	1616	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	CDK12_uc010wef.1_Missense_Mutation_p.R344W|CDK12_uc002hrw.3_Missense_Mutation_p.R344W	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	344					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GTCTCTGAGTCGGAGTCCACT	0.552		NaN								TCGA Ovarian(9;0.13)			0	0	0	1	0	18	15				
ERBB2	2064	broad.mit.edu	37	17	37864656	37864656	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37864656G>A	uc002hso.2	+	3	546	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	ERBB2_uc002hsm.2_Missense_Mutation_p.R73Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R88Q|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.R103Q|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.R73Q|ERBB2_uc002hsn.1_Missense_Mutation_p.R103Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	103	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGGATTGTGCGAGGCACCCAG	0.612		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	1	0	28	27		Valid		
PTRF	284119	broad.mit.edu	37	17	40557078	40557078	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:40557078C>T	uc002hzo.2	-	2	959	c.800G>A	c.(799-801)CGG>CAG	p.R267Q	PTRF_uc010wgi.1_Missense_Mutation_p.R249Q	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	267	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CAGGGTGTGCCGCGTCTTCTC	0.607		NaN											0	0	0	1	0	21	12				
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:46607197G>A	uc002ink.1	-	2	624	c.618C>T	c.(616-618)CTC>CTT	p.L206L		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	206	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGTTGGTGCGGAGGCCACTGG	0.607		NaN											0	0	0	1	0	48	33				
SCPEP1	59342	broad.mit.edu	37	17	55083551	55083551	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:55083551G>A	uc002iuv.3	+	13	1367	c.1314G>A	c.(1312-1314)GGG>GGA	p.G438G	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G388G	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	438					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					CTGACCAAGGGGACATGGCTC	0.522		NaN											0	0	0	1	0	25	56				
BZRAP1	9256	broad.mit.edu	37	17	56386419	56386419	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56386419C>T	uc002ivx.3	-	22	5085	c.4214G>A	c.(4213-4215)CGG>CAG	p.R1405Q	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.R1345Q|BZRAP1_uc010wnt.1_Missense_Mutation_p.R1405Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1405						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCTCCTCCGGCTGCTTCC	0.642		NaN											0	0	0	1	0	47	58				
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56774148G>A	uc002iwu.2	+	3	541	c.499G>A	c.(499-501)GAT>AAT	p.D167N	RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	167					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413		NaN						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				0	0	0	1	0	29	47				
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:63010911T>C	uc002jfc.2	-	4	807	c.598A>G	c.(598-600)AGA>GGA	p.R200G	GNA13_uc010wqh.1_Missense_Mutation_p.R105G	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	200	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GTGGGTCTTCTGGCAAGCAGA	0.353		NaN											0	0	0	1	0	26	43				
BPTF	2186	broad.mit.edu	37	17	65908474	65908474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:65908474G>A	uc002jgf.2	+	11	4535	c.4474G>A	c.(4474-4476)GAT>AAT	p.D1492N	BPTF_uc002jge.2_Missense_Mutation_p.D1618N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1618					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGTTCTTCAGATGCTGAAGG	0.433		NaN											0	0	0	1	0	33	61				
GRIN2C	2905	broad.mit.edu	37	17	72846043	72846043	+	Silent	SNP	G	G	A	rs147077649	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:72846043G>A	uc002jlt.1	-	7	1677	c.1521C>T	c.(1519-1521)ATC>ATT	p.I507I	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.I507I	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	507	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGAGGGAGCCGATGGCCATGT	0.607		NaN											0	0	0	1	0	30	50				
ICT1	3396	broad.mit.edu	37	17	73016475	73016475	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73016475G>A	uc002jmm.2	+	4	353	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	117					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					CCGTGCGGCAGAAGATAGCCA	0.507		NaN											0	0	0	1	0	20	29				
GALK1	2584	broad.mit.edu	37	17	73754661	73754661	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73754661G>C	uc010wsi.1	-	6	876	c.813C>G	c.(811-813)AGC>AGG	p.S271R	GALK1_uc002jpk.2_Missense_Mutation_p.S271R	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	271					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCTCTTTGCTCACCAGGT	0.701		NaN											0	0	0	1	0	4	8				
FBF1	85302	broad.mit.edu	37	17	73923539	73923539	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73923539C>T	uc002jqc.2	-	8	704	c.430G>A	c.(430-432)GAA>AAA	p.E144K	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E134K|FBF1_uc002jqd.1_Missense_Mutation_p.E144K	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	144											0						ATGGTACCTTCAGAGGAAAAC	0.577		NaN											0	0	0	1	0	3	3				
SRP68	6730	broad.mit.edu	37	17	74041408	74041408	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74041408C>T	uc002jqk.1	-	12	1394	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E	SRP68_uc010wsu.1_Silent_p.E352E|SRP68_uc002jql.1_Silent_p.E415E|SRP68_uc002jqj.1_Silent_p.E114E	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	453					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						TGAGGCCTATCTCTTTCTGGA	0.463		NaN											0	0	0	1	0	30	46				
EXOC7	23265	broad.mit.edu	37	17	74093986	74093986	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74093986G>A	uc002jqs.2	-	5	626	c.531C>T	c.(529-531)GAC>GAT	p.D177D	EXOC7_uc010dgv.1_Silent_p.D124D|EXOC7_uc002jqq.2_Silent_p.D177D|EXOC7_uc010wsw.1_Silent_p.D177D|EXOC7_uc010wsx.1_Silent_p.D177D|EXOC7_uc002jqr.2_Silent_p.D177D|EXOC7_uc010wsv.1_Silent_p.D136D|EXOC7_uc002jqu.2_Silent_p.D177D	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	177					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGATCATCGTCACCACTGA	0.617		NaN											0	0	0	1	0	34	77				
RHBDF2	79651	broad.mit.edu	37	17	74474947	74474947	+	Missense_Mutation	SNP	G	G	A	rs138968491		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74474947G>A	uc002jrq.1	-	6	993	c.700C>T	c.(700-702)CGC>TGC	p.R234C	RHBDF2_uc002jrp.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrr.1_Missense_Mutation_p.R86C|RHBDF2_uc010wtf.1_Missense_Mutation_p.R205C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R229C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	234	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						CTCTTGCGGCGTGGCAGGTGG	0.687		NaN											0	0	0	1	0	17	28				
TMC6	11322	broad.mit.edu	37	17	76115385	76115385	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:76115385G>A	uc002juj.1	-	13	1930	c.1804C>T	c.(1804-1806)CTG>TTG	p.L602L	TMC6_uc002jui.1_Silent_p.L181L|TMC6_uc010dhf.1_Silent_p.L435L|TMC6_uc002juk.2_Silent_p.L602L|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.L602L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	602	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAGGTCAGAGTCTGCCCA	0.622		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	1	0	33	46				
TXNDC2	84203	broad.mit.edu	37	18	9888112	9888112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:9888112G>A	uc002koi.3	+	2	2085	c.1636G>A	c.(1636-1638)GAA>AAA	p.E546K	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.E479K	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	546	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						GGAAAAACTTGAAGCAGTCAT	0.378		NaN											0	0	0	1	0	11	21				
CEP192	55125	broad.mit.edu	37	18	13057683	13057683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:13057683G>A	uc010xac.1	+	20	4288	c.4208G>A	c.(4207-4209)TGG>TAG	p.W1403*	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.W928*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.W1144*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1403										ovary(4)|pancreas(1)	5						ACTGACCGCTGGCTGCAAGTC	0.498		NaN											0	0	0	1	0	14	33				
ZNF521	25925	broad.mit.edu	37	18	22805210	22805210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:22805210C>T	uc002kvk.2	-	4	2919	c.2672G>A	c.(2671-2673)TGT>TAT	p.C891Y	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C891Y|ZNF521_uc002kvl.2_Missense_Mutation_p.C671Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	891	C2H2-type 21; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCTGCCCCACAAATGTCGCA	0.522		NaN	T	PAX5	ALL								0	0	0	1	0	41	71				
DSC1	1823	broad.mit.edu	37	18	28714075	28714075	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:28714075C>T	uc002kwn.2	-	13	2157	c.1895G>A	c.(1894-1896)CGT>CAT	p.R632H	DSC1_uc002kwm.2_Missense_Mutation_p.R632H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	632	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGCCGTTGACGAAGAATGGC	0.348		NaN											0	0	0	1	0	31	30				
DSG3	1830	broad.mit.edu	37	18	29054237	29054237	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:29054237C>T	uc002kws.2	+	15	2364	c.2255C>T	c.(2254-2256)GCC>GTC	p.A752V	DSG3_uc002kwt.2_Missense_Mutation_p.A34V	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	752	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCGGAGCAGCCACTGGAGTT	0.537		NaN											0	0	0	1	0	41	29				
MAPRE2	10982	broad.mit.edu	37	18	32682030	32682030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:32682030C>T	uc002kyg.2	+	4	697	c.517C>T	c.(517-519)CGA>TGA	p.R173*	MAPRE2_uc010xcb.1_Nonsense_Mutation_p.R130*|MAPRE2_uc010xcc.1_Nonsense_Mutation_p.R161*|MAPRE2_uc002kyf.2_Nonsense_Mutation_p.R173*|MAPRE2_uc002kyh.2_Nonsense_Mutation_p.R120*|MAPRE2_uc010xcd.1_Nonsense_Mutation_p.R130*	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	173					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						TGTAGAGGCACGACAAGGGCA	0.453		NaN											0	0	0	1	0	18	14				
KIAA1468	57614	broad.mit.edu	37	18	59888694	59888694	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:59888694T>G	uc002lil.2	+	5	1037	c.822T>G	c.(820-822)CTT>CTG	p.L274L	KIAA1468_uc002lik.1_Silent_p.L274L|KIAA1468_uc010xel.1_Silent_p.L274L|KIAA1468_uc002lim.2_5'UTR	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	274	LisH.						binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				ACTATAAGCTTACATCAATAA	0.294		NaN											0	0	0	1	0	30	17				
MED16	10025	broad.mit.edu	37	19	876999	876999	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:876999G>T	uc002lqd.1	-	9	1686	c.1535C>A	c.(1534-1536)ACG>AAG	p.T512K	MED16_uc010drw.1_Missense_Mutation_p.T337K|MED16_uc002lqe.2_Missense_Mutation_p.T501K|MED16_uc002lqf.2_Missense_Mutation_p.T501K|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.T357K|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	512					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCGCGTGTACTCCTC	0.697		NaN											1	0	0.00909568	1	0.00912667	4	3				
SLC25A41	284427	broad.mit.edu	37	19	6427193	6427193	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:6427193C>T	uc010dus.2	-	6	947	c.861G>A	c.(859-861)TCG>TCA	p.S287S	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.S149S	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	287	Solcar 3.|Helical; Name=5; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GCGTCACAGACGACAGACTGA	0.627		NaN											0	0	0	1	0	3	5				
ZNF557	79230	broad.mit.edu	37	19	7075710	7075710	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:7075710G>A	uc002mgb.2	+	4	540	c.55G>A	c.(55-57)GAG>AAG	p.E19K	ZNF557_uc002mga.2_Missense_Mutation_p.E26K|ZNF557_uc002mgc.2_Missense_Mutation_p.E26K	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		AGGACACACAGAGGGCGGAGA	0.522		NaN											0	0	0	1	0	30	16				
CCDC151	115948	broad.mit.edu	37	19	11533473	11533473	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:11533473G>A	uc002mrs.2	-	9	1316	c.1173C>T	c.(1171-1173)CTC>CTT	p.L391L	CCDC151_uc002mrr.2_Silent_p.L326L|CCDC151_uc010dxz.2_Silent_p.L331L	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	391	Potential.									ovary(1)	1						TCTCGCTCTTGAGCGTCTCCA	0.657		NaN											0	0	0	1	0	11	7				
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:13411423C>T	uc010dze.2	-	18	2459	c.2223G>A	c.(2221-2223)CAG>CAA	p.Q741Q	CACNA1A_uc010dzc.2_Silent_p.Q266Q|CACNA1A_uc002mwy.3_Silent_p.Q740Q|CACNA1A_uc010xne.1_Silent_p.Q269Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	741	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTGGCTTTCTGTAGGGCAA	0.522		NaN											0	0	0	1	0	5	66				
OR7A5	26659	broad.mit.edu	37	19	14938996	14938996	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:14938996C>T	uc002mzw.2	-	1	281	c.58G>A	c.(58-60)GAA>AAA	p.E20K	OR7A5_uc010xoa.1_Missense_Mutation_p.E20K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						AGTCCAGGTTCTTGTGAAAAT	0.458		NaN											0	0	0	1	0	24	20				
RASAL3	64926	broad.mit.edu	37	19	15562865	15562865	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15562865C>T	uc002nbe.2	-	17	2969	c.2883G>A	c.(2881-2883)CTG>CTA	p.L961L	WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Intron	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	961	Potential.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0						CCAGGTTTTTCAGACTGTGCC	0.577		NaN											0	0	0	1	0	25	45				
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	T	rs142743091		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:19650526G>T	uc002nmv.3	+	2	188	c.103G>T	c.(103-105)GGC>TGC	p.G35C	CILP2_uc002nmw.3_Missense_Mutation_p.G35C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GACTGCACTGGGCCTGGAAAG	0.667		NaN											1	0	1.42536e-11	1	1.48066e-11	23	62				
ZNF714	148206	broad.mit.edu	37	19	21300833	21300833	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:21300833G>A	uc002npo.3	+	6	1726	c.1366G>A	c.(1366-1368)GAA>AAA	p.E456K	ZNF714_uc002npl.2_Missense_Mutation_p.E301K|ZNF714_uc010ecp.1_Missense_Mutation_p.E407K|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	456	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTACAAATGTGAAGAATGTGG	0.368		NaN											0	0	0	1	0	21	43				
UPK1A	11045	broad.mit.edu	37	19	36159496	36159496	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36159496C>T	uc002oaw.2	+	2	225	c.225C>T	c.(223-225)TTC>TTT	p.F75F	UPK1A_uc010eeh.2_Silent_p.F75F|uc002oax.1_Missense_Mutation_p.M17I	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	75	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCCTTCTTCATGGTAGCCA	0.597		NaN											0	0	0	1	0	7	13				
MLL4	9757	broad.mit.edu	37	19	36214671	36214671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36214671G>A	uc010eei.2	+	9	3097	c.3097G>A	c.(3097-3099)GAT>AAT	p.D1033N		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1033					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGATTCCGATGAATCTCC	0.672		NaN											0	0	0	1	0	5	8		Valid		
TMEM149	79713	broad.mit.edu	37	19	36231306	36231306	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36231306C>T	uc002obc.2	-	3	418	c.317G>A	c.(316-318)GGC>GAC	p.G106D	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.G106D|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.G186D	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	106	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGGTTCTGCCCCCGCCCGC	0.706		NaN											0	0	0	1	0	5	20				
SUPT5H	6829	broad.mit.edu	37	19	39936594	39936594	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:39936594G>A	uc002olo.3	+	2	243	c.64G>A	c.(64-66)GAG>AAG	p.E22K	SUPT5H_uc010xvb.1_Missense_Mutation_p.E22K|SUPT5H_uc002olp.3_Missense_Mutation_p.E22K|SUPT5H_uc002olq.3_Missense_Mutation_p.E22K|SUPT5H_uc002oln.3_Missense_Mutation_p.E22K|SUPT5H_uc002olr.3_Missense_Mutation_p.E22K	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	22	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGTGACGGCGAGGAGGCCGA	0.657		NaN											0	0	0	1	0	6	16				
GSK3A	2931	broad.mit.edu	37	19	42744259	42744259	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42744259G>A	uc002otb.1	-	2	438	c.319C>T	c.(319-321)CTA>TTA	p.L107L	GSK3A_uc002ota.1_Silent_p.L25L|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	107					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				CCTTGGCCTAGAGTGGCTACG	0.587		NaN											0	0	0	1	0	18	40				
MEGF8	1954	broad.mit.edu	37	19	42839208	42839208	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42839208G>A	uc002otl.3	+	4	1215	c.580G>A	c.(580-582)GAG>AAG	p.E194K	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	194	Extracellular (Potential).|EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				ATGCCGCTGTGAGCCTGGCTT	0.478		NaN											0	0	0	1	0	9	16				
KLC3	147700	broad.mit.edu	37	19	45852790	45852790	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45852790G>C	uc002pbf.1	+	8	1188	c.1073G>C	c.(1072-1074)CGG>CCG	p.R358P	KLC3_uc010ejy.1_Missense_Mutation_p.R357P|KLC3_uc002pbg.1_Missense_Mutation_p.R372P	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	358	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACTATGCCCGGGCCCTGAGC	0.637		NaN											0	0	0	1	0	11	60				
ERCC2	2068	broad.mit.edu	37	19	45872219	45872219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45872219T>C	uc002pbj.2	-	4	262	c.215A>G	c.(214-216)TAC>TGC	p.Y72C	ERCC2_uc010ejz.2_Missense_Mutation_p.Y72C|ERCC2_uc002pbk.2_Missense_Mutation_p.Y48C|ERCC2_uc002pbl.3_Missense_Mutation_p.Y48C|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	72	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTTGAGCAGTAGATGAGTTT	0.577		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	28	50		Valid		
CCDC8	83987	broad.mit.edu	37	19	46914757	46914757	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:46914757C>T	uc002pep.2	-	1	2163	c.1311G>A	c.(1309-1311)AGG>AGA	p.R437R		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	437						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCCTCTGCCCTCTGGCCAG	0.612		NaN											0	0	0	1	0	31	53				
SULT2A1	6822	broad.mit.edu	37	19	48374720	48374720	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:48374720A>G	uc002phr.2	-	6	990	c.850T>C	c.(850-852)TGG>CGG	p.W284R		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	284					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CGTTATTCCCATGGGAACAGC	0.433		NaN											0	0	0	1	0	15	34				
SPHK2	56848	broad.mit.edu	37	19	49132163	49132163	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:49132163C>T	uc002pjr.2	+	7	1464	c.1098C>T	c.(1096-1098)CTC>CTT	p.L366L	SPHK2_uc010xzt.1_Silent_p.L307L|SPHK2_uc002pjs.2_Silent_p.L366L|SPHK2_uc002pjt.2_Silent_p.L160L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.L330L|SPHK2_uc002pjw.2_Silent_p.L428L	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	366					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCTGGGCCTCGCCACACTGC	0.667		NaN											0	0	0	1	0	32	43				
RCN3	57333	broad.mit.edu	37	19	50046469	50046469	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50046469G>A	uc002poj.2	+	7	1433	c.986G>A	c.(985-987)TGA>TAA	p.*329*		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	329						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GATGAGCTGTGAGCACCGCGC	0.652		NaN											0	0	0	1	0	8	10				
RRAS	6237	broad.mit.edu	37	19	50139972	50139972	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50139972C>A	uc002pop.1	-	4	402	c.357G>T	c.(355-357)GTG>GTT	p.V119V		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	119					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		AGAGCTTGCCCACCTCGTTGA	0.627		NaN											1	0	5.3912e-06	1	5.4938e-06	17	31				
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50243401C>T	uc002ppm.2	-	10	1548	c.1537G>A	c.(1537-1539)GAG>AAG	p.E513K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	513							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647		NaN											0	0	0	1	0	22	65				
FUZ	80199	broad.mit.edu	37	19	50315567	50315567	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50315567C>T	uc002ppq.1	-	3	364	c.259G>A	c.(259-261)GAG>AAG	p.E87K	FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Missense_Mutation_p.E37K|FUZ_uc010ybd.1_Missense_Mutation_p.E87K	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	87					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		ATGCCCACCTCAGATGACAGA	0.423		NaN											0	0	0	1	0	6	28				
SIGLEC5	8778	broad.mit.edu	37	19	52132666	52132666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:52132666C>T	uc002pxe.2	-	3	784	c.645G>A	c.(643-645)ATG>ATA	p.M215I		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	215	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGGCGTTTCATCTGACAGG	0.632		NaN											0	0	0	1	0	13	38				
ZNF665	79788	broad.mit.edu	37	19	53668818	53668818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:53668818G>A	uc010eqm.1	-	4	1025	c.925C>T	c.(925-927)CGA>TGA	p.R309*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	244	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGACTTGCA	0.428		NaN											0	0	0	1	0	59	136				
RRM2	6241	broad.mit.edu	37	2	10269168	10269168	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10269168G>A	uc002rah.2	+	9	1095	c.904G>A	c.(904-906)GAG>AAG	p.E302K		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	302					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTTCCTAGGAGTTCCTCAC	0.438		NaN											0	0	0	1	0	37	86				
C2orf48	348738	broad.mit.edu	37	2	10350668	10350668	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10350668C>T	uc002rai.1	+	4	714	c.425C>T	c.(424-426)ACA>ATA	p.T142I		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	hypothetical protein LOC348738	142											0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CTGGACTCCACACAGGCCTGC	0.567		NaN											0	0	0	1	0	31	61				
LAPTM4A	9741	broad.mit.edu	37	2	20237361	20237361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:20237361G>C	uc002rdm.2	-	3	755	c.247C>G	c.(247-249)CTT>GTT	p.L83V	LAPTM4A_uc002rdn.2_Missense_Mutation_p.L41V|LAPTM4A_uc010yjx.1_Missense_Mutation_p.L73V	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	83	Helical; (Potential).				transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAAAAAGAACACAGGCA	0.289		NaN											0	0	0	1	0	13	21				
ITSN2	50618	broad.mit.edu	37	2	24521660	24521660	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:24521660T>C	uc002rfe.2	-	13	1626	c.1368A>G	c.(1366-1368)CGA>CGG	p.R456R	ITSN2_uc002rff.2_Silent_p.R456R|ITSN2_uc002rfg.2_Silent_p.R456R|ITSN2_uc010eyd.2_Silent_p.R481R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	456	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGACGTTGTCGTTCAAGTT	0.338		NaN											0	0	0	1	0	25	64				
GPR113	165082	broad.mit.edu	37	2	26533881	26533881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:26533881G>T	uc002rhe.3	-	11	2715	c.2715C>A	c.(2713-2715)TAC>TAA	p.Y905*	GPR113_uc010yky.1_Nonsense_Mutation_p.Y836*|GPR113_uc002rhb.1_Nonsense_Mutation_p.Y508*|GPR113_uc010eyk.1_Nonsense_Mutation_p.Y706*|GPR113_uc002rhc.1_Nonsense_Mutation_p.Y508*|GPR113_uc002rhd.1_RNA	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	905	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAGGTAGGTAGAGCCCCA	0.607		NaN											1	0	1.08611e-07	1	1.11449e-07	12	8				
PPP1CB	5500	broad.mit.edu	37	2	29004678	29004678	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29004678G>C	uc002rmg.2	+	5	650	c.490G>C	c.(490-492)GTG>CTG	p.V164L	PPP1CB_uc010ymj.1_Missense_Mutation_p.V136L|PPP1CB_uc010ymk.1_Missense_Mutation_p.V136L|PPP1CB_uc010yml.1_Missense_Mutation_p.V136L|PPP1CB_uc002rmh.2_Missense_Mutation_p.V164L|SPDYA_uc002rmi.2_5'Flank	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	164					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCATTGTGGATGAGAA	0.313		NaN											0	0	0	1	0	11	38				
FAM179A	165186	broad.mit.edu	37	2	29245089	29245089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29245089C>T	uc010ezl.2	+	11	1777	c.1426C>T	c.(1426-1428)CTT>TTT	p.L476F	FAM179A_uc010ymm.1_Missense_Mutation_p.L421F|FAM179A_uc002rmr.3_Missense_Mutation_p.L3F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	476							binding			ovary(3)|skin(1)	4						GGAGATGGATCTTAGAGCCTG	0.542		NaN											0	0	0	1	0	29	59				
LTBP1	4052	broad.mit.edu	37	2	33589339	33589339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:33589339G>A	uc002ros.2	+	30	4459	c.4459G>A	c.(4459-4461)GAG>AAG	p.E1487K	LTBP1_uc002rot.2_Missense_Mutation_p.E1161K|LTBP1_uc002rou.2_Missense_Mutation_p.E1160K|LTBP1_uc002rov.2_Missense_Mutation_p.E1107K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1118K|LTBP1_uc010yna.1_Missense_Mutation_p.E1065K|LTBP1_uc010ynb.1_Missense_Mutation_p.E384K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1486	EGF-like 16; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTTAATACAGAGGGCTCTTA	0.423		NaN											0	0	0	1	0	24	37				
TTC7A	57217	broad.mit.edu	37	2	47177528	47177528	+	Missense_Mutation	SNP	G	G	A	rs147914967		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:47177528G>A	uc002rvo.2	+	2	579	c.211G>A	c.(211-213)GAG>AAG	p.E71K	TTC7A_uc002rvm.2_Missense_Mutation_p.E37K|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc010fbb.2_Missense_Mutation_p.E71K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	71							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTGCTGGCTGAGGCCCTCCT	0.502		NaN											0	0	0	1	0	64	96				
ASB3	51130	broad.mit.edu	37	2	53992675	53992675	+	Missense_Mutation	SNP	G	G	C	rs146004165		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:53992675G>C	uc002rxg.1	-	2	170	c.35C>G	c.(34-36)TCT>TGT	p.S12C	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.S50C|ASB3_uc010yoo.1_Missense_Mutation_p.S12C|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	12	ANK 1.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCAACTGTAGAGCACGTGTC	0.428		NaN											0	0	0	1	0	37	76				
PNPT1	87178	broad.mit.edu	37	2	55882034	55882034	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:55882034C>T	uc002rzf.2	-	18	1548	c.1495_splice	c.e18+1	p.G499_splice	PNPT1_uc002rzg.2_Splice_Site	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATTCTTTTACCTGAATCCAT	0.204		NaN											0	0	0	1	0	20	51				
USP34	9736	broad.mit.edu	37	2	61431458	61431458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:61431458C>T	uc002sbe.2	-	74	9339	c.9317G>A	c.(9316-9318)AGC>AAC	p.S3106N	USP34_uc002sbd.2_Intron	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3106					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CCGAATATTGCTTTTCCCTCC	0.408		NaN											0	0	0	1	0	25	42				
PLEK	5341	broad.mit.edu	37	2	68592492	68592492	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:68592492A>G	uc002sen.3	+	1	171	c.9A>G	c.(7-9)CCA>CCG	p.P3P	PLEK_uc010fde.2_Silent_p.P3P	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	3					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATGGAACCAAAGCGGATCA	0.597		NaN											0	0	0	1	0	32	47				
ATP6V1B1	525	broad.mit.edu	37	2	71192177	71192177	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:71192177C>T	uc002shj.2	+	14	1555	c.1468C>T	c.(1468-1470)CCG>TCG	p.P490S	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.P473S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.P448S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	490					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GAAGCGCATTCCGCAGGCCGT	0.662		NaN									OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	37				
TTC31	64427	broad.mit.edu	37	2	74718624	74718624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:74718624C>T	uc002slt.2	+	8	724	c.701C>T	c.(700-702)TCT>TTT	p.S234F	TTC31_uc002sls.2_Missense_Mutation_p.S163F|TTC31_uc010yrv.1_Missense_Mutation_p.S90F|TTC31_uc002slu.2_Missense_Mutation_p.S90F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	234							binding				0						CTGGATCTATCTAGCACTTTT	0.542		NaN											0	0	0	1	0	88	183				
IMMT	10989	broad.mit.edu	37	2	86374830	86374830	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86374830C>T	uc002sqz.3	-	13	1916	c.1528G>A	c.(1528-1530)GAG>AAG	p.E510K	IMMT_uc002sqy.3_Missense_Mutation_p.E251K|IMMT_uc002srb.3_Missense_Mutation_p.E499K|IMMT_uc002sra.3_Missense_Mutation_p.E509K|IMMT_uc010ytd.1_Missense_Mutation_p.E498K|IMMT_uc010yte.1_Missense_Mutation_p.E463K|IMMT_uc002src.1_Missense_Mutation_p.E246K	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	510	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						CTCACCTGCTCAAATTCAGAC	0.483		NaN											0	0	0	1	0	21	29				
REEP1	65055	broad.mit.edu	37	2	86459890	86459890	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86459890G>A	uc002srh.3	-	6	597	c.453C>T	c.(451-453)TTC>TTT	p.F151F	REEP1_uc010ytg.1_Silent_p.F130F|REEP1_uc010yth.1_Silent_p.F124F|REEP1_uc010yti.1_Missense_Mutation_p.S73L	NM_022912	NP_075063	Q9H902	REEP1_HUMAN	receptor accessory protein 1 isoform 2	151					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding				0						CCTGCATGCTGAAGCTCCGCA	0.667		NaN											0	0	0	1	0	13	18				
EIF2AK3	9451	broad.mit.edu	37	2	88890382	88890382	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:88890382A>G	uc002stc.3	-	5	1158	c.956T>C	c.(955-957)GTT>GCT	p.V319A		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	319	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GAATGCCATAACTTTCCAGTC	0.428		NaN											0	0	0	1	0	33	67				
SNRNP200	23020	broad.mit.edu	37	2	96943981	96943981	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:96943981C>G	uc002svu.2	-	39	5690	c.5604G>C	c.(5602-5604)CTG>CTC	p.L1868L	SNRNP200_uc002svt.2_Silent_p.L478L|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1868	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TCACCTGCCTCAGGAGATTGT	0.552		NaN											0	0	0	1	0	29	57				
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:97779539C>T	uc010yva.1	+	1	307	c.63C>T	c.(61-63)TTC>TTT	p.F21F	ANKRD36_uc002sxn.2_Silent_p.F21F|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Silent_p.F21F|ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21											0						CGGATGGCTTCGCATTTCCCC	0.512		NaN											0	0	0	1	0	21	61				
MRPL30	51263	broad.mit.edu	37	2	99804704	99804704	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:99804704C>T	uc002szu.2	+	3	278	c.116C>T	c.(115-117)TCA>TTA	p.S39L	MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.S39L|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.S39L	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN	RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;	39					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1						TTCACCAGATCAAGAATTCCA	0.279		NaN											0	0	0	1	0	4	8				
REV1	51455	broad.mit.edu	37	2	100019151	100019151	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:100019151T>C	uc002tad.2	-	21	3709	c.3497A>G	c.(3496-3498)AAT>AGT	p.N1166S	REV1_uc002tac.2_Missense_Mutation_p.N1165S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	1166	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CTTCACATCATTGAATTCAAC	0.488		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	28	47				
SLC9A4	389015	broad.mit.edu	37	2	103142766	103142766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:103142766C>T	uc002tbz.3	+	11	2456	c.1999C>T	c.(1999-2001)CAG>TAG	p.Q667*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	667	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CGGGAATCCTCAGTCTGCAGG	0.443		NaN											0	0	0	1	0	24	44				
RANBP2	5903	broad.mit.edu	37	2	109369565	109369565	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:109369565C>T	uc002tem.3	+	13	1993	c.1867C>T	c.(1867-1869)CCT>TCT	p.P623S		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	623					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GAACAGTATTCCTGAACCTAT	0.308		NaN											0	0	0	1	0	32	74				
DPP10	57628	broad.mit.edu	37	2	116594297	116594297	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:116594297A>G	uc002tla.1	+	24	2614	c.2157A>G	c.(2155-2157)ATA>ATG	p.I719M	DPP10_uc002tlb.1_Missense_Mutation_p.I669M|DPP10_uc002tlc.1_Missense_Mutation_p.I715M|DPP10_uc002tle.2_Missense_Mutation_p.I723M|DPP10_uc002tlf.1_Missense_Mutation_p.I712M	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	719	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						AAGAAAATATATTAATAATTC	0.333		NaN											0	0	0	1	0	44	62				
TMEM177	80775	broad.mit.edu	37	2	120438762	120438762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120438762G>A	uc010flg.1	+	2	806	c.333G>A	c.(331-333)TTG>TTA	p.L111L	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.L111L|TMEM177_uc002tmd.2_Silent_p.L111L|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	111						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					CCAGTTTCTTGGGAGACCTAG	0.587		NaN											0	0	0	1	0	86	167				
PTPN4	5775	broad.mit.edu	37	2	120725491	120725491	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120725491T>C	uc002tmf.1	+	26	3408	c.2637T>C	c.(2635-2637)TAT>TAC	p.Y879Y	PTPN4_uc010flj.1_Silent_p.Y592Y|PTPN4_uc010yyr.1_Silent_p.Y512Y	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	879	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	AGCCAGTTTATCCACTAGATA	0.373		NaN											0	0	0	1	0	32	78				
ERCC3	2071	broad.mit.edu	37	2	128046431	128046431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:128046431C>T	uc002toh.1	-	7	927	c.832G>A	c.(832-834)GAG>AAG	p.E278K	ERCC3_uc002toe.1_Missense_Mutation_p.E33K|ERCC3_uc002tof.1_Missense_Mutation_p.E214K|ERCC3_uc002tog.1_Missense_Mutation_p.E214K|ERCC3_uc010flx.1_Missense_Mutation_p.E33K	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	278					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGAGTTCCTCAATCATTTCC	0.413		NaN	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	70	117				
BAZ2B	29994	broad.mit.edu	37	2	160206422	160206422	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:160206422C>T	uc002uao.2	-	28	5012	c.4660G>A	c.(4660-4662)GAA>AAA	p.E1554K	BAZ2B_uc002uap.2_Missense_Mutation_p.E1518K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTATTCTTTTCAGTCAGCGTT	0.428		NaN											0	0	0	1	0	61	115				
TBR1	10716	broad.mit.edu	37	2	162273101	162273101	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:162273101G>A	uc002ubw.1	+	1	482	c.180G>A	c.(178-180)ACG>ACA	p.T60T	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GGGGGATGACGAATCAGTCAG	0.498		NaN											0	0	0	1	0	31	60				
COBLL1	22837	broad.mit.edu	37	2	165551902	165551902	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:165551902G>A	uc010zcw.1	-	15	2439	c.2315C>T	c.(2314-2316)TCA>TTA	p.S772L	COBLL1_uc002ucp.2_Missense_Mutation_p.S705L|COBLL1_uc002ucq.2_Missense_Mutation_p.S667L|COBLL1_uc010zcx.1_Missense_Mutation_p.S713L|COBLL1_uc002ucn.2_Missense_Mutation_p.S133L|COBLL1_uc002uco.2_Missense_Mutation_p.S436L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	743										ovary(2)|pancreas(1)	3						CGGATCTTCTGAATGTATAAT	0.373		NaN											0	0	0	1	0	58	104				
TTN	7273	broad.mit.edu	37	2	179398127	179398127	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179398127G>A	uc010zfg.1	-	307	95735	c.95511C>T	c.(95509-95511)CTC>CTT	p.L31837L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L25532L|TTN_uc010zfi.1_Silent_p.L25465L|TTN_uc010zfj.1_Silent_p.L25340L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGGCCCGAGGGACAGTG	0.473		NaN											0	0	0	1	0	27	51				
TTN	7273	broad.mit.edu	37	2	179422195	179422195	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179422195C>G	uc010zfg.1	-	278	80314	c.80090G>C	c.(80089-80091)GGA>GCA	p.G26697A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G20392A|TTN_uc010zfi.1_Missense_Mutation_p.G20325A|TTN_uc010zfj.1_Missense_Mutation_p.G20200A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27624							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTGCCTCCATTTGACAC	0.458		NaN											0	0	0	1	0	24	66				
TTN	7273	broad.mit.edu	37	2	179429435	179429435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179429435C>G	uc010zfg.1	-	275	73944	c.73720G>C	c.(73720-73722)GAG>CAG	p.E24574Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18269Q|TTN_uc010zfi.1_Missense_Mutation_p.E18202Q|TTN_uc010zfj.1_Missense_Mutation_p.E18077Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25501							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCATACTCAAGGCCCTCA	0.418		NaN											0	0	0	1	0	19	30				
ITGAV	3685	broad.mit.edu	37	2	187466860	187466860	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:187466860A>T	uc002upq.2	+	2	574	c.298A>T	c.(298-300)ATT>TTT	p.I100F	ITGAV_uc010frs.2_Missense_Mutation_p.I100F|ITGAV_uc010zfv.1_Missense_Mutation_p.I54F	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	100	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTGCCAGCCAATTGAATTTGA	0.423		NaN											0	0	0	1	0	17	29				
TMEFF2	23671	broad.mit.edu	37	2	192863864	192863864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:192863864C>T	uc002utc.2	-	6	1001	c.607G>A	c.(607-609)GAT>AAT	p.D203N		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	203	Kazal-like 2.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATGCATTATCATAAGATTTC	0.363		NaN											0	0	0	1	0	29	52				
ALS2	57679	broad.mit.edu	37	2	202631985	202631985	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:202631985G>A	uc002uyo.2	-	3	498	c.142C>T	c.(142-144)CTC>TTC	p.L48F	ALS2_uc002uyp.3_Missense_Mutation_p.L48F|ALS2_uc002uyq.2_Missense_Mutation_p.L48F|ALS2_uc002uyr.2_Missense_Mutation_p.L48F	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	48					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TTCACTCCGAGGGCTGCCTGC	0.488		NaN											0	0	0	1	0	14	31				
MAP2	4133	broad.mit.edu	37	2	210558419	210558419	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:210558419G>C	uc002vde.1	+	7	1773	c.1525G>C	c.(1525-1527)GAT>CAT	p.D509H	MAP2_uc002vdc.1_Missense_Mutation_p.D509H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D505H	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	509					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAGTTACAGATTCAGCCAT	0.428		NaN											0	0	0	1	0	25	26				
SIRPB2	284759	broad.mit.edu	37	20	1458977	1458977	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:1458977C>T	uc002wfg.2	-	3	955	c.727G>A	c.(727-729)GTA>ATA	p.V243I	SIRPB2_uc002wfh.3_Missense_Mutation_p.V145I|SIRPB2_uc010zpr.1_Missense_Mutation_p.V105I	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	243	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0						TGAAACTTTACACAGTAATAG	0.512		NaN											0	0	0	1	0	24	48				
STK35	140901	broad.mit.edu	37	20	2083843	2083843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:2083843G>A	uc010gak.2	+	2	724	c.724G>A	c.(724-726)GAG>AAG	p.E242K	STK35_uc010zpu.1_Missense_Mutation_p.E109K|STK35_uc002wfw.3_Missense_Mutation_p.E109K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	242	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CGAGAACGTGGAGCTGGCGCT	0.682		NaN											0	0	0	1	0	5	11				
HSPA12B	116835	broad.mit.edu	37	20	3732653	3732653	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:3732653T>A	uc002wjd.2	+	13	2004	c.1901T>A	c.(1900-1902)CTT>CAT	p.L634H	HSPA12B_uc010zqi.1_Missense_Mutation_p.L633H|HSPA12B_uc002wje.2_Missense_Mutation_p.L547H|HSPA12B_uc010zqj.1_Missense_Mutation_p.L468H	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	634							ATP binding				0						AGCCTCGAGCTTGAGCCCGCC	0.697		NaN											0	0	0	1	0	5	7				
RASSF2	9770	broad.mit.edu	37	20	4768393	4768393	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:4768393C>T	uc002wld.2	-	9	753	c.699G>A	c.(697-699)CAG>CAA	p.Q233Q	RASSF2_uc002wlc.2_Intron|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.Q233Q|RASSF2_uc010gbh.2_5'Flank	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	233	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						CCTTCAGCTTCTGTTTCTCTG	0.542		NaN											0	0	0	1	0	16	21				
PLCB1	23236	broad.mit.edu	37	20	8722214	8722214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:8722214G>C	uc002wnb.2	+	23	2520	c.2517G>C	c.(2515-2517)AAG>AAC	p.K839N	PLCB1_uc010zrb.1_Missense_Mutation_p.K738N|PLCB1_uc002wna.2_Missense_Mutation_p.K839N|PLCB1_uc002wnc.1_Missense_Mutation_p.K738N|PLCB1_uc002wnd.1_Missense_Mutation_p.K416N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	839					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						AAGAAGTAAAGAAAGAGGTGA	0.398		NaN											0	0	0	1	0	5	20				
C20orf3	57136	broad.mit.edu	37	20	24973288	24973288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:24973288G>C	uc002wty.2	-	1	138	c.37C>G	c.(37-39)CTG>GTG	p.L13V	C20orf3_uc002wtz.2_Missense_Mutation_p.L13V|C20orf3_uc010zsw.1_Missense_Mutation_p.L13V	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	13	Cytoplasmic (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						TGCGGCCGCAGGGGCCGGCGC	0.716		NaN											0	0	0	1	0	4	1				
ACSS1	84532	broad.mit.edu	37	20	25038496	25038496	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:25038496G>A	uc002wub.2	-	1	1121	c.243C>T	c.(241-243)CTC>CTT	p.L81L	ACSS1_uc002wuc.2_Silent_p.L81L|ACSS1_uc010gdc.2_Silent_p.L81L	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	81					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTCCCACACGAGAGTGTCCC	0.657		NaN											0	0	0	1	0	18	31				
C20orf134	170487	broad.mit.edu	37	20	32255571	32255571	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:32255571G>A	uc002wzt.2	+	1	1268	c.268G>A	c.(268-270)GAC>AAC	p.D90N	NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron	NM_001024675	NP_001019846	Q5JWF8	CT134_HUMAN	hypothetical protein LOC170487	90										pancreas(1)	1						CGTGTCCCTGGACTTCGAGGG	0.672		NaN											0	0	0	1	0	14	18				
MYH7B	57644	broad.mit.edu	37	20	33574708	33574708	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:33574708G>A	uc002xbi.1	+	13	1142	c.1050G>A	c.(1048-1050)ATG>ATA	p.M350I		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	308	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTGTCTATGAACCCCTATG	0.567		NaN											0	0	0	1	0	26	33				
SPAG4	6676	broad.mit.edu	37	20	34204137	34204137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:34204137C>T	uc002xdb.1	+	1	329	c.212C>T	c.(211-213)ACA>ATA	p.T71I	SPAG4_uc010zvi.1_5'UTR	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	71					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGAGGAACCACATGGGCAGGA	0.741		NaN											0	0	0	1	0	7	10				
CTNNBL1	56259	broad.mit.edu	37	20	36322537	36322537	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:36322537G>A	uc010zvw.1	+	1	104	c.13G>A	c.(13-15)GAA>AAA	p.E5K	CTNNBL1_uc010zvv.1_5'UTR	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	5					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GGACGTGGGCGAACTTCTGAG	0.662		NaN											0	0	0	1	0	3	6				
CHD6	84181	broad.mit.edu	37	20	40049589	40049589	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:40049589G>T	uc002xka.1	-	31	5864	c.5686C>A	c.(5686-5688)CCC>ACC	p.P1896T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1896					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTAGTAGTGGGCTCCGTGAGA	0.418		NaN											1	0	3.3946e-10	1	3.50775e-10	39	42				
YWHAB	7529	broad.mit.edu	37	20	43530229	43530229	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:43530229G>A	uc002xmt.2	+	3	337	c.55G>A	c.(55-57)GAG>AAG	p.E19K	YWHAB_uc002xmu.2_Missense_Mutation_p.E19K	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	19					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				TGAGCAGGCTGAGCGATATGA	0.458		NaN											0	0	0	1	0	23	24				
PCIF1	63935	broad.mit.edu	37	20	44573628	44573628	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:44573628G>A	uc002xqs.2	+	11	1441	c.1127G>A	c.(1126-1128)CGA>CAA	p.R376Q	PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	376						nucleus				skin(1)	1						AAACGGATCCGAGAGAAGCAC	0.562		NaN											0	0	0	1	0	13	4				
GCFC1	94104	broad.mit.edu	37	21	34120941	34120941	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34120941T>C	uc002yqn.2	-	11	1982	c.1792A>G	c.(1792-1794)ATT>GTT	p.I598V	GCFC1_uc002yql.2_Missense_Mutation_p.I107V|GCFC1_uc002yqm.2_Missense_Mutation_p.I92V|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.I598V	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	598						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TGTGATTTAATACAGTCAATT	0.358		NaN											0	0	0	1	0	50	16				
CRYZL1	9946	broad.mit.edu	37	21	34962153	34962153	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34962153C>G	uc011adw.1	-	13	1205	c.1025G>C	c.(1024-1026)AGA>ACA	p.R342T	DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	342					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						TTGCTTTTTTCTTCCTTGATT	0.353		NaN											0	0	0	1	0	24	12				
RSPH1	89765	broad.mit.edu	37	21	43913146	43913146	+	Missense_Mutation	SNP	C	C	T	rs145742147	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:43913146C>T	uc002zbg.2	-	2	203	c.98G>A	c.(97-99)CGT>CAT	p.R33H	SLC37A1_uc002zbh.1_5'Flank	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	33	MORN 1.				meiosis	cytosol|nucleus				ovary(1)	1						TGCCCTCCCACGTCCGTGCCT	0.448		NaN											0	0	0	1	0	137	58				
PCNT	5116	broad.mit.edu	37	21	47821561	47821562	+	Missense_Mutation	DNP	TC	TC	GA	rs147564798		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:47821561_47821562TC>GA	uc002zji.3	+	26	4995_4996	c.4888_4889TC>GA	c.(4888-4890)TCG>GAG	p.S1630E	PCNT_uc002zjj.2_Missense_Mutation_p.S1512E	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1630	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CGAGCCTCCTTCGGGCAGCCCT	0.554		NaN											0	0	0	1	0	55	50				
SERPIND1	3053	broad.mit.edu	37	22	21134339	21134339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134339G>A	uc002ztb.1	+	2	806	c.739G>A	c.(739-741)GAG>AAG	p.E247K	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E275K	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	247					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TTACTTTGCTGAGGCCCAGAT	0.433		NaN											0	0	0	1	0	66	197				
SERPIND1	3053	broad.mit.edu	37	22	21134464	21134464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134464G>A	uc002ztb.1	+	2	931	c.864G>A	c.(862-864)ATG>ATA	p.M288I	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.M316I	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	288					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCCAGATGATGATTCTCAACT	0.423		NaN											0	0	0	1	0	70	217				
MN1	4330	broad.mit.edu	37	22	28193195	28193195	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:28193195A>C	uc003adj.2	-	1	4292	c.3337T>G	c.(3337-3339)TCG>GCG	p.S1113A		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1113							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						TCAGGGGTCGAGGTAGAGTTA	0.756		NaN	T	ETV6	AML|meningioma								0	0	0	1	0	6	16				
KDELR3	11015	broad.mit.edu	37	22	38875600	38875600	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:38875600G>A	uc003avv.2	+	3	351	c.195G>A	c.(193-195)GTG>GTA	p.V65V	KDELR3_uc003avu.2_Silent_p.V65V	NM_006855	NP_006846	O43731	ERD23_HUMAN	KDEL receptor 3 isoform a	65	Helical; (Potential).				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			ovary(2)	2	Melanoma(58;0.0286)					CCTTTTAGGTGGTTTTTCTCC	0.438		NaN											0	0	0	1	0	59	47				
SREBF2	6721	broad.mit.edu	37	22	42271711	42271711	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42271711C>G	uc003bbi.2	+	7	1538	c.1369C>G	c.(1369-1371)CTA>GTA	p.L457V	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	457	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AGGAAGCCCTCTATTGGATGA	0.502		NaN											0	0	0	1	0	36	34				
SEPT3	55964	broad.mit.edu	37	22	42392933	42392933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42392933C>T	uc003bbr.3	+	11	1177	c.1039C>T	c.(1039-1041)CCA>TCA	p.P347S	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_3'UTR|SEPT3_uc010gyr.2_Missense_Mutation_p.P283S|SEPT3_uc011apj.1_3'UTR|SEPT3_uc010gys.2_Missense_Mutation_p.P127S|WBP2NL_uc003bbt.2_5'Flank|WBP2NL_uc011apk.1_5'Flank|WBP2NL_uc003bbu.2_5'Flank	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	347					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						CACTGTCCTTCCACCTGTGCC	0.577		NaN											0	0	0	1	0	46	30				
KCNH8	131096	broad.mit.edu	37	3	19575010	19575010	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:19575010G>T	uc003cbk.1	+	16	2938	c.2743G>T	c.(2743-2745)GTG>TTG	p.V915L	KCNH8_uc010hex.1_Missense_Mutation_p.V376L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	915	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAGCACCTCTGTGTGTCCCTC	0.522		NaN											1	0	2.47907e-22	1	2.61679e-22	57	22				
NEK10	152110	broad.mit.edu	37	3	27346359	27346359	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:27346359C>T	uc003cdt.1	-	13	1181	c.907G>A	c.(907-909)GAC>AAC	p.D303N		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	303							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TTCAAGTGGTCAGAGTGGAGC	0.542		NaN											0	0	0	1	0	19	18				
GLB1	2720	broad.mit.edu	37	3	33110348	33110348	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:33110348C>T	uc003cfi.1	-	3	477	c.360G>A	c.(358-360)CTG>CTA	p.L120L	GLB1_uc003cfh.1_Silent_p.L90L|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.L168L	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	120					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				GCCCGGGCCTCAGGATAACCA	0.562		NaN											0	0	0	1	0	45	27				
XIRP1	165904	broad.mit.edu	37	3	39228107	39228107	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:39228107G>A	uc003cjk.1	-	2	3051	c.2830C>T	c.(2830-2832)CTG>TTG	p.L944L	XIRP1_uc003cji.2_Silent_p.L944L|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	944							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCACCGCAGACTGTGCAGG	0.637		NaN											0	0	0	1	0	39	14				
GPR62	118442	broad.mit.edu	37	3	51990695	51990695	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:51990695G>A	uc003dca.3	+	1	1366	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	343	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGCCCTTCTGAGGCTCCAGA	0.672		NaN											0	0	0	1	0	22	10				
ALAS1	211	broad.mit.edu	37	3	52246323	52246323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:52246323G>A	uc003dcy.1	+	11	1986	c.1649G>A	c.(1648-1650)AGA>AAA	p.R550K	ALAS1_uc003dcz.1_Missense_Mutation_p.R550K|ALAS1_uc011bec.1_Missense_Mutation_p.R567K	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	550					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTAATGAGCAGACATAACATC	0.498		NaN											0	0	0	1	0	197	72				
ROBO2	6092	broad.mit.edu	37	3	77657032	77657032	+	Silent	SNP	C	C	T	rs143136849		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:77657032C>T	uc003dpy.3	+	21	3863	c.3220C>T	c.(3220-3222)CTA>TTA	p.L1074L	ROBO2_uc003dpz.2_Silent_p.L1078L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L1078L|ROBO2_uc003dqa.2_Silent_p.L201L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1074	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.L1074L(1)|p.L1090L(1)		lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGTCCCTCTACCTCCCCC	0.423		NaN											0	0	0	1	0	10	34				
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:97726706C>T	uc011bgr.1	-	6	656	c.656G>A	c.(655-657)GGA>GAA	p.G219E		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	219	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						GGACTTGTTTCCGTGTTTCCA	0.343		NaN											0	0	0	1	0	6	13				
BBX	56987	broad.mit.edu	37	3	107474514	107474514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:107474514C>T	uc010hpr.2	+	10	1222	c.895C>T	c.(895-897)CAA>TAA	p.Q299*	BBX_uc003dwk.3_Nonsense_Mutation_p.Q299*|BBX_uc003dwl.3_Nonsense_Mutation_p.Q299*|BBX_uc010hps.1_Nonsense_Mutation_p.Q320*|BBX_uc003dwm.3_Nonsense_Mutation_p.Q299*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGCACTCTTTCAACTGGCAGA	0.368		NaN											0	0	0	1	0	25	59				
GPR156	165829	broad.mit.edu	37	3	119905579	119905579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:119905579C>T	uc011bjf.1	-	5	526	c.526G>A	c.(526-528)GAT>AAT	p.D176N	GPR156_uc011bjg.1_Missense_Mutation_p.D176N	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	176	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		AGGATCACATCAGCCATCAAC	0.502		NaN											0	0	0	1	0	32	66				
STXBP5L	9515	broad.mit.edu	37	3	121126442	121126442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121126442G>A	uc003eec.3	+	24	3152	c.3012G>A	c.(3010-3012)ATG>ATA	p.M1004I	STXBP5L_uc011bji.1_Missense_Mutation_p.M980I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1004	WD 13.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GACATATCATGATAATGAGGT	0.373		NaN											0	0	0	1	0	32	35				
POLQ	10721	broad.mit.edu	37	3	121251880	121251880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121251880G>T	uc003eee.3	-	6	1046	c.917C>A	c.(916-918)TCA>TAA	p.S306*		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	306					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTTCATTGAAGAGTCATA	0.383		NaN						DNA_polymerases_(catalytic_subunits)					1	0	5.50884e-06	1	5.59432e-06	13	30				
OSBPL11	114885	broad.mit.edu	37	3	125313607	125313607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:125313607G>A	uc003eic.2	-	1	775	c.38C>T	c.(37-39)TCG>TTG	p.S13L		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						TTCGCTCTCCGAGACTTTCAT	0.408		NaN											0	0	0	1	0	15	23				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	1	0	12	8				
ATP2C1	27032	broad.mit.edu	37	3	130694262	130694262	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:130694262G>A	uc003enl.2	+	18	1722	c.1500G>A	c.(1498-1500)TTG>TTA	p.L500L	ATP2C1_uc011blg.1_Silent_p.L534L|ATP2C1_uc011blh.1_Silent_p.L495L|ATP2C1_uc011bli.1_Silent_p.L534L|ATP2C1_uc003enk.2_Silent_p.L484L|ATP2C1_uc003enm.2_Silent_p.L500L|ATP2C1_uc003enn.2_Silent_p.L484L|ATP2C1_uc003eno.2_Silent_p.L500L|ATP2C1_uc003enp.2_Silent_p.L500L|ATP2C1_uc003enq.2_Silent_p.L500L|ATP2C1_uc003enr.2_Silent_p.L500L|ATP2C1_uc003ens.2_Silent_p.L500L|ATP2C1_uc003ent.2_Silent_p.L500L|ATP2C1_uc003enu.2_Silent_p.L178L	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	500	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GGCAGACCTTGACACTTACTC	0.463		NaN							Hailey-Hailey_disease				0	0	0	1	0	25	33				
STAG1	10274	broad.mit.edu	37	3	136076567	136076567	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:136076567C>G	uc003era.1	-	28	3352	c.3060G>C	c.(3058-3060)AAG>AAC	p.K1020N	STAG1_uc003erb.1_Missense_Mutation_p.K1020N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1020					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CTTACACTGTCTTTTTGTCCT	0.294		NaN											0	0	0	1	0	18	34				
MRPS22	56945	broad.mit.edu	37	3	139071544	139071544	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:139071544G>A	uc003etb.2	+	6	796	c.788G>A	c.(787-789)CGT>CAT	p.R263H	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R262H|MRPS22_uc003ete.2_Missense_Mutation_p.R222H	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	263						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GACCTTTTACGTTCAACAAGA	0.323		NaN											0	0	0	1	0	21	41				
MFSD1	64747	broad.mit.edu	37	3	158519993	158519993	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:158519993G>A	uc003fcl.1	+	1	82	c.52G>A	c.(52-54)GAG>AAG	p.E18K	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.E18K|MFSD1_uc011box.1_5'UTR	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	18					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGCCCTGACGAGGCCGACAG	0.682		NaN											0	0	0	1	0	4	12				
KPNA4	3840	broad.mit.edu	37	3	160219955	160219955	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:160219955A>C	uc003fdn.2	-	17	1809	c.1503T>G	c.(1501-1503)ATT>ATG	p.I501M		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4	501					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCCGCCTTGAATTGCCTCTG	0.348		NaN											0	0	0	1	0	34	45				
MYNN	55892	broad.mit.edu	37	3	169496653	169496653	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:169496653G>A	uc003fft.2	+	3	793	c.364G>A	c.(364-366)GCT>ACT	p.A122T	MYNN_uc011bpm.1_Missense_Mutation_p.A8T|MYNN_uc003ffu.2_Missense_Mutation_p.A122T|MYNN_uc003ffv.2_Intron|MYNN_uc010hwo.2_Missense_Mutation_p.A122T|MYNN_uc003ffw.1_5'Flank	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGCTTTTATTGCTAATCCTTC	0.343		NaN											0	0	0	1	0	24	56				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	20	15		Valid		
MCCC1	56922	broad.mit.edu	37	3	182804570	182804570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:182804570C>T	uc003fle.2	-	4	417	c.280G>A	c.(280-282)GAA>AAA	p.E94K	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Missense_Mutation_p.M17I|MCCC1_uc003flg.2_5'UTR|MCCC1_uc011bqp.1_Missense_Mutation_p.E47K|MCCC1_uc011bqq.1_5'UTR	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	94	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GAATATGCTTCATCTGCCTGT	0.438		NaN											0	0	0	1	0	6	5				
C3orf59	151963	broad.mit.edu	37	3	192516517	192516517	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:192516517G>A	uc011bsp.1	-	2	1455	c.1134C>T	c.(1132-1134)TTC>TTT	p.F378F		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	378											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		ACTGAGGGATGAAATAATTGG	0.532		NaN											0	0	0	1	0	19	46				
RNF168	165918	broad.mit.edu	37	3	196198864	196198864	+	Silent	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196198864T>A	uc003fwq.2	-	6	2080	c.1542A>T	c.(1540-1542)TCA>TCT	p.S514S	RNF168_uc010iah.2_Silent_p.S347S|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	514					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTTGTCCCTTGAGCCTCTCT	0.423		NaN											0	0	0	1	0	87	191				
PIGZ	80235	broad.mit.edu	37	3	196675332	196675332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196675332G>A	uc003fxh.2	-	3	583	c.436C>T	c.(436-438)CAC>TAC	p.H146Y		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	146	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGGCCAGGTGGTACACGGCC	0.667		NaN											0	0	0	1	0	13	24				
LRCH3	84859	broad.mit.edu	37	3	197597072	197597072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:197597072G>A	uc011bul.1	+	18	1920	c.1915G>A	c.(1915-1917)GAT>AAT	p.D639N	LRCH3_uc003fyj.1_Missense_Mutation_p.D639N|LRCH3_uc011bum.1_Missense_Mutation_p.D587N|LRCH3_uc011bun.1_Missense_Mutation_p.D485N|LRCH3_uc003fyk.2_Missense_Mutation_p.D234N	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	639						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ACCTACCACTGATTCTACAGA	0.403		NaN											0	0	0	1	0	47	84				
ZNF718	255403	broad.mit.edu	37	4	155410	155410	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:155410C>T	uc003fzt.3	+	8	1068	c.935C>T	c.(934-936)TCA>TTA	p.S312L	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.H92Y	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	312	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACCCTTCTCATGCGAAGAA	0.388		NaN											0	0	0	1	0	10	17				
WHSC1	7468	broad.mit.edu	37	4	1932436	1932436	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:1932436G>A	uc003gdz.3	+	6	1670	c.1494G>A	c.(1492-1494)CAG>CAA	p.Q498Q	WHSC1_uc003geb.3_Silent_p.Q498Q|WHSC1_uc003gec.3_Silent_p.Q498Q|WHSC1_uc003ged.3_Silent_p.Q498Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Silent_p.Q498Q|WHSC1_uc010icd.1_Silent_p.Q498Q|WHSC1_uc003gea.1_Silent_p.Q498Q|WHSC1_uc010ice.1_Silent_p.Q498Q|WHSC1_uc003geh.1_Silent_p.Q498Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	498	HMG box.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTGAGAAGCAGAGAGCACGCT	0.537		NaN	T	IGH@	MM								0	0	0	1	0	17	28				
POLN	353497	broad.mit.edu	37	4	2209868	2209868	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2209868G>A	uc003ger.2	-	3	560	c.560C>T	c.(559-561)TCT>TTT	p.S187F	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S187F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	187					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGAGTTCCCAGAATTTAGGTA	0.368		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	33	54				
ADD1	118	broad.mit.edu	37	4	2900171	2900171	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2900171C>G	uc003gfr.2	+	8	1085	c.897C>G	c.(895-897)CTC>CTG	p.L299L	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.L299L|ADD1_uc003gfo.2_Silent_p.L299L|ADD1_uc003gfp.2_Silent_p.L299L|ADD1_uc003gfq.2_Silent_p.L299L|ADD1_uc003gfs.2_Silent_p.L299L|ADD1_uc003gft.3_Silent_p.L299L|ADD1_uc003gfu.2_Silent_p.L84L	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	299					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTTATTCTCCGGAACCATG	0.493		NaN											0	0	0	1	0	57	94				
CNO	55330	broad.mit.edu	37	4	6718478	6718478	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:6718478C>G	uc003gjp.1	+	1	637	c.542C>G	c.(541-543)TCG>TGG	p.S181W		NM_018366	NP_060836	Q9NUP1	CNO_HUMAN	cappuccino	181					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol					0				Colorectal(103;0.0523)		AACGTGCCCTCGCTCTTTAGC	0.622		NaN											0	0	0	1	0	6	8				
NKX3-2	579	broad.mit.edu	37	4	13543785	13543785	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:13543785C>T	uc003gmx.2	-	2	910	c.834G>A	c.(832-834)AAG>AAA	p.K278K		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	278					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGGCCACCTTCTTGGCGGCGG	0.642		NaN											0	0	0	1	0	4	11				
PI4K2B	55300	broad.mit.edu	37	4	25253958	25253958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:25253958C>A	uc003grk.2	+	2	417	c.284C>A	c.(283-285)TCA>TAA	p.S95*	PI4K2B_uc011bxs.1_5'UTR	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	95						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				ATTGGTACTTCAGAGATGAAT	0.383		NaN											1	0	4.35082e-09	1	4.48012e-09	19	37				
TXK	7294	broad.mit.edu	37	4	48096182	48096182	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48096182C>T	uc003gxx.3	-	8	707	c.621G>A	c.(619-621)AAG>AAA	p.K207K	TXK_uc003gxy.1_Silent_p.K207K	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	207	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CTGAGTCATTCTTTTTTATCT	0.403		NaN											0	0	0	1	0	22	48				
FRYL	285527	broad.mit.edu	37	4	48517101	48517101	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48517101C>T	uc003gyh.1	-	56	8486	c.7881G>A	c.(7879-7881)CTG>CTA	p.L2627L	FRYL_uc003gyf.1_Silent_p.L23L|FRYL_uc003gyg.1_Silent_p.L1323L|FRYL_uc003gyi.1_Silent_p.L1515L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2627					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CTAGCTCTTTCAGAGCTAAGG	0.428		NaN											0	0	0	1	0	38	69				
CWH43	80157	broad.mit.edu	37	4	49052780	49052780	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:49052780C>T	uc003gyv.2	+	15	2117	c.1935C>T	c.(1933-1935)ATC>ATT	p.I645I	CWH43_uc011bzl.1_Silent_p.I618I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	645					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						AATTTAGGATCCCTGATGACC	0.393		NaN											0	0	0	1	0	22	41				
SCFD2	152579	broad.mit.edu	37	4	53786903	53786903	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:53786903G>T	uc003gzu.2	-	6	1830	c.1696C>A	c.(1696-1698)CAT>AAT	p.H566N	SCFD2_uc010igm.2_Missense_Mutation_p.H566N	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	566					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGTGGGTATGATTTCCAGGA	0.393		NaN											1	0	1.1804e-14	1	1.23272e-14	25	33				
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:54374161C>T	uc003hag.3	-	3	870	c.614G>A	c.(613-615)CGA>CAA	p.R205Q	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.R109Q|LNX1_uc003hah.3_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	205						cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552		NaN											0	0	0	1	0	6	21				
KIAA1211	57482	broad.mit.edu	37	4	57173841	57173841	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:57173841C>T	uc003hbk.2	+	5	652	c.261C>T	c.(259-261)ATC>ATT	p.I87I	KIAA1211_uc010iha.2_Silent_p.I80I|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	87										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGGACATCGTCCTCTCAG	0.517		NaN											0	0	0	1	0	16	28				
TECRL	253017	broad.mit.edu	37	4	65194231	65194231	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:65194231A>G	uc003hcv.2	-	3	439	c.330T>C	c.(328-330)TGT>TGC	p.C110C	TECRL_uc003hcw.2_Silent_p.C110C	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	110					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GCTTCTTACCACATTCTAGCT	0.299		NaN											0	0	0	1	0	19	40				
ALB	213	broad.mit.edu	37	4	74277802	74277802	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74277802A>T	uc003hgs.3	+	7	876	c.803A>T	c.(802-804)GAA>GTA	p.E268V	ALB_uc003hgw.3_Missense_Mutation_p.E76V|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.E268V|ALB_uc010iii.2_Missense_Mutation_p.E153V|ALB_uc003hgu.3_Missense_Mutation_p.E118V|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.E158V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	268	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTCCACACGGAATGCTGCCAT	0.458		NaN											0	0	0	1	0	32	62				
RASSF6	166824	broad.mit.edu	37	4	74453627	74453627	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74453627G>A	uc003hhd.1	-	5	531	c.408C>T	c.(406-408)GAC>GAT	p.D136D	RASSF6_uc003hhc.1_Silent_p.D104D|RASSF6_uc010iik.1_Silent_p.D104D|RASSF6_uc010iil.1_Silent_p.D92D	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	136					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATAGAGATCGTCAAATTCCC	0.383		NaN											0	0	0	1	0	19	42				
ANKRD56	345079	broad.mit.edu	37	4	77818388	77818388	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:77818388C>T	uc003hki.2	-	1	615	c.615G>A	c.(613-615)CTG>CTA	p.L205L		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	205	Ala-rich.										0						GCAGTACAGCCAGGTTGTTCT	0.731		NaN											0	0	0	1	0	4	4				
FRAS1	80144	broad.mit.edu	37	4	79434557	79434557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:79434557C>T	uc003hlb.2	+	65	10465	c.10025C>T	c.(10024-10026)TCG>TTG	p.S3342L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3337	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ATCCACATTTCGGTGCAGATC	0.433		NaN											0	0	0	1	0	46	61				
FGF5	2250	broad.mit.edu	37	4	81207685	81207685	+	Silent	SNP	G	G	A	rs3733335		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:81207685G>A	uc003hmd.2	+	3	903	c.666G>A	c.(664-666)TCG>TCA	p.S222S	FGF5_uc003hme.2_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	222					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						TCAAGCAGTCGGAGCAGCCAG	0.478		NaN											0	0	0	1	0	45	52				
HELQ	113510	broad.mit.edu	37	4	84350762	84350762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:84350762G>A	uc003hom.2	-	12	2612	c.2433C>T	c.(2431-2433)CTC>CTT	p.L811L	HELQ_uc010ikb.2_Silent_p.L744L|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	811							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						CTTTTTGTAGGAGTCCTTTTT	0.328		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	1	0	20	32				
C4orf33	132321	broad.mit.edu	37	4	130023826	130023826	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:130023826A>G	uc003igu.3	+	2	425	c.61A>G	c.(61-63)ATC>GTC	p.I21V	C4orf33_uc010ioc.1_Missense_Mutation_p.I21V|C4orf33_uc010iod.2_Missense_Mutation_p.I21V	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	21										upper_aerodigestive_tract(1)	1						GCCCGTATTTATCAGGCTGAA	0.408		NaN											0	0	0	1	0	33	80				
ACCN5	51802	broad.mit.edu	37	4	156784856	156784856	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:156784856G>C	uc003ipe.1	-	2	138	c.91C>G	c.(91-93)CCC>GCC	p.P31A		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	31	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		CGCTCAGTGGGAGATGGCAGT	0.388		NaN											0	0	0	1	0	52	47				
ANP32C	23520	broad.mit.edu	37	4	165118255	165118255	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:165118255G>A	uc011cjk.1	-	1	609	c.609C>T	c.(607-609)GAC>GAT	p.D203D	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	203	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		catcctcctcgtcccctccac	0.085		NaN											0	0	0	1	0	4	11				
ODZ3	55714	broad.mit.edu	37	4	183267920	183267920	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:183267920G>A	uc003ivd.1	+	2	386	c.349G>A	c.(349-351)GAT>AAT	p.D117N	ODZ3_uc010irv.1_Missense_Mutation_p.D117N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	117	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCAGGGTCAGATGCTGATAC	0.532		NaN											0	0	0	1	0	4	6				
ZNF622	90441	broad.mit.edu	37	5	16458679	16458679	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:16458679G>A	uc003jfq.2	-	4	1229	c.1109C>T	c.(1108-1110)TCA>TTA	p.S370L		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	370						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						GTTCTTTTCTGAGGGCAACTC	0.393		NaN											0	0	0	1	0	14	48				
LIFR	3977	broad.mit.edu	37	5	38481864	38481864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:38481864C>T	uc010ive.1	-	20	3459	c.3127G>A	c.(3127-3129)GAC>AAC	p.D1043N	LIFR_uc003jli.2_Missense_Mutation_p.D1043N	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	1043	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					CTAGGAGAGTCTGGAGACACT	0.403		NaN	T	PLAG1	salivary adenoma								0	0	0	1	0	49	89				
TTC33	23548	broad.mit.edu	37	5	40716332	40716332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:40716332G>A	uc003jma.2	-	5	852	c.704C>T	c.(703-705)TCT>TTT	p.S235F	TTC33_uc011cpm.1_Missense_Mutation_p.S127F|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	235							binding			ovary(1)	1						CCCAGAAGCAGACACAATAAC	0.428		NaN											0	0	0	1	0	24	42				
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:52096666C>T	uc003jos.2	+	2	1423	c.438C>T	c.(436-438)CTC>CTT	p.L146L	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	146					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582		NaN											0	0	0	1	0	21	24				
SLC38A9	153129	broad.mit.edu	37	5	54929659	54929659	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54929659C>T	uc003jqf.2	-	14	1554	c.1353G>A	c.(1351-1353)ATG>ATA	p.M451I	SLC38A9_uc003jqd.2_Missense_Mutation_p.M388I|SLC38A9_uc010ivx.2_Missense_Mutation_p.M388I|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Missense_Mutation_p.M322I	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	451	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATACAGTCATCATCTGGAACA	0.448		NaN											0	0	0	1	0	15	25				
CMYA5	202333	broad.mit.edu	37	5	79025761	79025761	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:79025761G>A	uc003kgc.2	+	2	1245	c.1173G>A	c.(1171-1173)CTG>CTA	p.L391L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	391						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTATGTTCCTGAGAACAACAA	0.468		NaN											0	0	0	1	0	16	9				
SRP19	6728	broad.mit.edu	37	5	112200214	112200214	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:112200214G>A	uc003kqc.2	+	3	259	c.178G>A	c.(178-180)GTA>ATA	p.V60I	SRP19_uc003kqb.1_Missense_Mutation_p.V60I|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_Silent_p.T9T	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	60					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGGACTTAACGTATTTCTTGA	0.323		NaN											0	0	0	1	0	20	21				
DTWD2	285605	broad.mit.edu	37	5	118274974	118274974	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:118274974C>T	uc003ksa.2	-	3	355	c.321G>A	c.(319-321)GTG>GTA	p.V107V		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	107											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTGTACGCAACACTTTGTTTT	0.333		NaN											0	0	0	1	0	11	4				
LMNB1	4001	broad.mit.edu	37	5	126113516	126113516	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:126113516G>A	uc003kud.1	+	1	684	c.316G>A	c.(316-318)GAG>AAG	p.E106K	LMNB1_uc003kuc.2_Missense_Mutation_p.E106K|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Intron	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	106	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GCTGCAGATCGAGCTGGGCAA	0.711		NaN											0	0	0	1	0	2	0				
FBN2	2201	broad.mit.edu	37	5	127685049	127685049	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:127685049A>G	uc003kuu.2	-	23	3418	c.2979T>C	c.(2977-2979)CGT>CGC	p.R993R	FBN2_uc003kuv.2_Silent_p.R960R	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	993	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAAACATACACGGCCAGTCC	0.453		NaN											0	0	0	1	0	8	6				
SPINK5	11005	broad.mit.edu	37	5	147449958	147449958	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147449958C>G	uc003lox.2	+	3	227	c.154C>G	c.(154-156)CAA>GAA	p.Q52E	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.Q24E|SPINK5_uc010jgr.2_Missense_Mutation_p.Q33E|SPINK5_uc003low.2_Missense_Mutation_p.Q52E|SPINK5_uc003loy.2_Missense_Mutation_p.Q52E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	52	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTTTTCAAAGTCTTGA	0.328		NaN											0	0	0	1	0	28	22				
SPINK5	11005	broad.mit.edu	37	5	147499895	147499895	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147499895G>A	uc003lox.2	+	26	2552	c.2479G>A	c.(2479-2481)GAA>AAA	p.E827K	SPINK5_uc010jgr.2_Missense_Mutation_p.E808K|SPINK5_uc003low.2_Missense_Mutation_p.E827K|SPINK5_uc003loy.2_Missense_Mutation_p.E827K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	827	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGAGGATGAAGACAGGAG	0.393		NaN											0	0	0	1	0	7	7				
CSNK1A1	1452	broad.mit.edu	37	5	148930407	148930407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:148930407C>T	uc003lqx.1	-	1	601	c.121G>A	c.(121-123)GAG>AAG	p.E41K	CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Missense_Mutation_p.E41K|CSNK1A1_uc003lqy.1_Missense_Mutation_p.E41K|CSNK1A1_uc010jha.1_Missense_Mutation_p.E41K	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	41	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGATTACCTCGCCGTTGGTG	0.547		NaN											0	0	0	1	0	25	17				
SNCB	6620	broad.mit.edu	37	5	176053748	176053748	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053748C>T	uc003mep.2	-	4	579	c.136G>A	c.(136-138)GAA>AAA	p.E46K	SNCB_uc003meq.2_Missense_Mutation_p.E46K|SNCB_uc010jke.1_Missense_Mutation_p.E46K	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	46	3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACACCTTCTCGGGTCTTG	0.577		NaN											0	0	0	1	0	31	22				
SNCB	6620	broad.mit.edu	37	5	176053750	176053750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053750C>T	uc003mep.2	-	4	577	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	SNCB_uc003meq.2_Missense_Mutation_p.R45Q|SNCB_uc010jke.1_Missense_Mutation_p.R45Q	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	45	3; approximate.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGGTCTTGCT	0.572		NaN											0	0	0	1	0	31	22				
RREB1	6239	broad.mit.edu	37	6	7182305	7182305	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7182305G>A	uc003mxc.2	+	4	551	c.161G>A	c.(160-162)AGA>AAA	p.R54K	RREB1_uc010jnw.2_Missense_Mutation_p.R54K|RREB1_uc003mxb.2_Missense_Mutation_p.R54K|RREB1_uc010jnx.2_Missense_Mutation_p.R54K|RREB1_uc003mxd.2_Missense_Mutation_p.R54K	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	54					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGATTGGCAGAAGGAACCAG	0.527		NaN											0	0	0	1	0	23	15				
DSP	1832	broad.mit.edu	37	6	7542296	7542296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7542296G>A	uc003mxp.1	+	1	427	c.148G>A	c.(148-150)GAC>AAC	p.D50N	DSP_uc003mxq.1_Missense_Mutation_p.D50N	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	50	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTGATCACCGACCAGAACTC	0.701		NaN											0	0	0	1	0	2	1				
BMP6	654	broad.mit.edu	37	6	7880494	7880494	+	Missense_Mutation	SNP	C	C	T	rs139361183		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7880494C>T	uc003mxu.3	+	7	1638	c.1460C>T	c.(1459-1461)TCG>TTG	p.S487L		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	487					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					AATGCCATCTCGGTTCTTTAC	0.448		NaN											0	0	0	1	0	56	53				
HIST1H1B	3009	broad.mit.edu	37	6	27835260	27835260	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:27835260C>T	uc003njx.2	-	1	100	c.48G>A	c.(46-48)GAG>GAA	p.E16E		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	16					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CCGGGGATTTCTCCACCGGCG	0.582		NaN											0	0	0	1	0	26	11				
GNL1	2794	broad.mit.edu	37	6	30523426	30523426	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:30523426C>T	uc003nqh.2	-	2	1173	c.145G>A	c.(145-147)GAC>AAC	p.D49N	GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.D47N|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	49					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						TCCGAGGTGTCGGTCTGTTCC	0.662		NaN											0	0	0	1	0	19	17				
HLA-C	3107	broad.mit.edu	37	6	31239458	31239458	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31239458C>T	uc003nsy.2	-	2	268	c.261G>A	c.(259-261)GAG>GAA	p.E87E	HLA-C_uc011dnj.1_Silent_p.E59E|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Silent_p.E87E|HLA-C_uc010jsl.2_Silent_p.E87E|HLA-C_uc003nta.2_Silent_p.E87E|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	87	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						ACTTCTGTGTCTCCCGGTCCC	0.687		NaN											0	0	0	1	0	16	14				
DDAH2	23564	broad.mit.edu	37	6	31695035	31695035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31695035G>A	uc003nwp.2	-	6	1468	c.837C>T	c.(835-837)CTC>CTT	p.L279L	DDAH2_uc003nwq.2_Silent_p.L279L	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	279					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	GGCGTGTGCTGAGCACCAAGC	0.592		NaN											0	0	0	1	0	50	53				
SLC44A4	80736	broad.mit.edu	37	6	31842778	31842778	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31842778G>A	uc010jti.2	-	5	336	c.270C>T	c.(268-270)AAC>AAT	p.N90N	SLC44A4_uc011dol.1_Silent_p.N14N|SLC44A4_uc011dom.1_Silent_p.N90N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	90	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	AGCTGAAGATGTTGAAGTACA	0.597		NaN											0	0	0	1	0	44	27				
EHMT2	10919	broad.mit.edu	37	6	31864542	31864542	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31864542C>T	uc003nxz.1	-	3	179	c.169G>A	c.(169-171)GAC>AAC	p.D57N	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.D114N|EHMT2_uc003nya.1_Missense_Mutation_p.D57N|EHMT2_uc003nyb.1_Missense_Mutation_p.D57N|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	57					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						TCCAGGGAGTCGGGGGTGGCC	0.582		NaN											0	0	0	1	0	30	21				
RXRB	6257	broad.mit.edu	37	6	33162525	33162525	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:33162525G>A	uc003odb.2	-	10	1715	c.1536C>T	c.(1534-1536)CTC>CTT	p.L512L	RXRB_uc003odc.2_Silent_p.L516L|RXRB_uc003odd.2_Silent_p.L416L|RXRB_uc011dqr.1_Silent_p.L326L	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	512	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTCACCAATGAGCTTGAAGA	0.557		NaN											0	0	0	1	0	16	13				
C6orf89	221477	broad.mit.edu	37	6	36882094	36882094	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:36882094G>A	uc003omx.2	+	5	722	c.438G>A	c.(436-438)CAG>CAA	p.Q146Q	C6orf89_uc003omv.2_Silent_p.Q40Q|C6orf89_uc003omw.2_Silent_p.Q153Q|C6orf89_uc011dtr.1_Silent_p.Q40Q|C6orf89_uc003omy.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	146						integral to membrane				ovary(1)	1						ACTGTGAGCAGAATGAGTCAG	0.517		NaN											0	0	0	1	0	21	21				
CCND3	896	broad.mit.edu	37	6	41903779	41903779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:41903779G>A	uc003orn.2	-	5	943	c.778C>T	c.(778-780)CAG>TAG	p.Q260*	CCND3_uc003orp.2_Nonsense_Mutation_p.Q179*|CCND3_uc011duk.1_Nonsense_Mutation_p.Q64*|CCND3_uc003orm.2_Nonsense_Mutation_p.Q210*|CCND3_uc003oro.2_Nonsense_Mutation_p.Q188*	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	260					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCTGGTCTGAGAGGCTTCC	0.627		NaN	T	IGH@	MM								0	0	0	1	0	6	3		Valid		
HMGCLL1	54511	broad.mit.edu	37	6	55304265	55304265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:55304265C>G	uc003pcn.2	-	9	1137	c.978G>C	c.(976-978)TTG>TTC	p.L326F	HMGCLL1_uc003pco.2_Missense_Mutation_p.L296F|HMGCLL1_uc010jzx.2_Missense_Mutation_p.L197F|HMGCLL1_uc011dxc.1_Missense_Mutation_p.L264F|HMGCLL1_uc011dxd.1_Missense_Mutation_p.L193F|HMGCLL1_uc011dxe.1_Missense_Mutation_p.L130F	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	326							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATATATATCAAATCCTCAG	0.418		NaN											0	0	0	1	0	30	22				
COL9A1	1297	broad.mit.edu	37	6	70944596	70944596	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:70944596C>T	uc003pfg.3	-	34	2319	c.2160G>A	c.(2158-2160)CGG>CGA	p.R720R	COL9A1_uc003pfe.3_Silent_p.R269R|COL9A1_uc003pff.3_Silent_p.R477R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	720	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CAGGAAGCCCCCGACTTCCCT	0.612		NaN											0	0	0	1	0	13	11				
LACE1	246269	broad.mit.edu	37	6	108676919	108676919	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:108676919A>G	uc003psj.2	+	4	663	c.477A>G	c.(475-477)AAA>AAG	p.K159K		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	159							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGAGGAAAAAACGGGTTCATT	0.303		NaN											0	0	0	1	0	34	16				
TRAF3IP2	10758	broad.mit.edu	37	6	111912967	111912967	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:111912967G>A	uc011ebc.1	-	3	938	c.323C>T	c.(322-324)TCT>TTT	p.S108F	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.S108F|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.S108F|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.S108F	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	117					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGAGCACCCAGAAGGGAAAGC	0.552		NaN											0	0	0	1	0	20	17				
LAMA4	3910	broad.mit.edu	37	6	112466047	112466047	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:112466047G>A	uc003pvu.2	-	19	2751	c.2442C>T	c.(2440-2442)AGC>AGT	p.S814S	LAMA4_uc003pvv.2_Silent_p.S807S|LAMA4_uc003pvt.2_Silent_p.S807S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	814	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTCTGGATGCTGGCAGAAA	0.488		NaN											0	0	0	1	0	30	12				
LAMA2	3908	broad.mit.edu	37	6	129826498	129826498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:129826498C>T	uc003qbn.2	+	60	8806	c.8701C>T	c.(8701-8703)CCA>TCA	p.P2901S	LAMA2_uc003qbo.2_Missense_Mutation_p.P2897S|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2901	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGAATTGGTCCAGTAAATAT	0.383		NaN											0	0	0	1	0	28	10				
REPS1	85021	broad.mit.edu	37	6	139265753	139265753	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:139265753G>A	uc003qii.2	-	5	1214	c.635C>T	c.(634-636)TCT>TTT	p.S212F	REPS1_uc003qig.3_Missense_Mutation_p.S212F|REPS1_uc011edr.1_Missense_Mutation_p.S212F|REPS1_uc003qij.2_Missense_Mutation_p.S212F|REPS1_uc003qik.2_Intron	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	212						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATCACCAGCAGAAGAACCTAT	0.428		NaN											0	0	0	1	0	22	28				
THBS2	7058	broad.mit.edu	37	6	169648584	169648584	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:169648584G>A	uc003qwt.2	-	4	785	c.537C>T	c.(535-537)TTC>TTT	p.F179F		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	179	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTGCTCGTAGAAGGGCTCGT	0.617		NaN											0	0	0	1	0	39	36				
MAFK	7975	broad.mit.edu	37	7	1579901	1579901	+	Missense_Mutation	SNP	G	G	A	rs143840628		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:1579901G>A	uc003skr.2	+	3	572	c.361G>A	c.(361-363)GTG>ATG	p.V121M	MAFK_uc003sks.1_RNA	NM_002360	NP_002351	O60675	MAFK_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	121					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGCGCGCACCGTGGCCCGGGG	0.682		NaN											0	0	0	1	0	3	7				
CREB5	9586	broad.mit.edu	37	7	28858777	28858777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:28858777C>T	uc003szq.2	+	11	1798	c.1408C>T	c.(1408-1410)CAG>TAG	p.Q470*	CREB5_uc003szo.2_Nonsense_Mutation_p.Q437*|CREB5_uc003szr.2_Nonsense_Mutation_p.Q463*|CREB5_uc003szs.2_Nonsense_Mutation_p.Q331*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	470					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AGCTTGCTCCCAGCAACAAGT	0.502		NaN											0	0	0	1	0	46	81				
AOAH	313	broad.mit.edu	37	7	36726373	36726373	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:36726373C>T	uc003tfh.3	-	2	555	c.154G>A	c.(154-156)GAA>AAA	p.E52K	AOAH_uc010kxf.2_Missense_Mutation_p.E52K|AOAH_uc011kba.1_Intron	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	52	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GCAAGCTGTTCTATTACAGAC	0.512		NaN											0	0	0	1	0	14	33				
NPC1L1	29881	broad.mit.edu	37	7	44556401	44556401	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:44556401G>C	uc003tlb.2	-	17	3557	c.3501C>G	c.(3499-3501)CTC>CTG	p.L1167L	NPC1L1_uc003tlc.2_Silent_p.L1140L|NPC1L1_uc011kbw.1_Silent_p.L1094L|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1167	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGAGCAGGTTGAGGAGGCCGG	0.612		NaN											0	0	0	1	0	3	12				
TNS3	64759	broad.mit.edu	37	7	47344505	47344505	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:47344505G>A	uc003tnv.2	-	21	3114	c.2747C>T	c.(2746-2748)TCG>TTG	p.S916L	TNS3_uc003tnw.2_Missense_Mutation_p.S916L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	916						focal adhesion	protein binding			ovary(4)	4						GGAGGGCGTCGAGGACGCATC	0.567		NaN											0	0	0	1	0	10	13				
ZNF107	51427	broad.mit.edu	37	7	64168093	64168093	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:64168093G>C	uc003ttd.2	+	7	2197	c.1411G>C	c.(1411-1413)GAG>CAG	p.E471Q	ZNF107_uc003tte.2_Missense_Mutation_p.E471Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	471	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTATAAATGTGAGGAATGTGG	0.363		NaN											0	0	0	1	0	19	35				
TYW1	55253	broad.mit.edu	37	7	66463931	66463931	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:66463931G>A	uc003tvn.2	+	3	412	c.263G>A	c.(262-264)GGA>GAA	p.G88E	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	88	FMN (By similarity).|Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				TCTCAGACTGGAACAGCGAAG	0.378		NaN											0	0	0	1	0	25	56				
TRIM50	135892	broad.mit.edu	37	7	72738632	72738632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:72738632G>A	uc010lbd.1	-	2	279	c.154C>T	c.(154-156)CGC>TGC	p.R52C	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R52C|TRIM50_uc003txz.1_Missense_Mutation_p.R52C	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	52	RING-type.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						ACGGGGCAGCGCAGCTCGGCA	0.677		NaN									OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	23	44				
PCLO	27445	broad.mit.edu	37	7	82583410	82583410	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:82583410C>T	uc003uhx.2	-	5	7148	c.6859G>A	c.(6859-6861)GAC>AAC	p.D2287N	PCLO_uc003uhv.2_Missense_Mutation_p.D2287N|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2218					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAAACAGTGTCAGCAACTGGC	0.393		NaN											0	0	0	1	0	43	88				
DBF4	10926	broad.mit.edu	37	7	87533643	87533643	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87533643A>G	uc003ujf.1	+	11	1465	c.961A>G	c.(961-963)AGT>GGT	p.S321G	DBF4_uc003ujh.1_Missense_Mutation_p.S61G|DBF4_uc003ujg.1_Missense_Mutation_p.S97G|DBF4_uc011khf.1_Missense_Mutation_p.S88G	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	321	DBF4-type.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTTTGCACAGAGTAACCAGTA	0.284		NaN											0	0	0	1	0	26	26				
ADAM22	53616	broad.mit.edu	37	7	87797475	87797475	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87797475A>T	uc003ujn.2	+	25	2294	c.2215A>T	c.(2215-2217)ATA>TTA	p.I739L	ADAM22_uc003ujk.1_Missense_Mutation_p.I739L|ADAM22_uc003ujl.1_Missense_Mutation_p.I739L|ADAM22_uc003ujm.2_Missense_Mutation_p.I739L|ADAM22_uc003ujo.2_Missense_Mutation_p.I739L|ADAM22_uc003ujp.1_Missense_Mutation_p.I791L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	739	Helical; (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAATATCATAATAGGCATAAT	0.363		NaN											0	0	0	1	0	14	34				
KRIT1	889	broad.mit.edu	37	7	91863905	91863905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:91863905C>T	uc003ulq.1	-	8	1018	c.847G>A	c.(847-849)GAA>AAA	p.E283K	KRIT1_uc010lev.1_Missense_Mutation_p.E76K|KRIT1_uc003ulr.1_Missense_Mutation_p.E283K|KRIT1_uc003uls.1_Missense_Mutation_p.E283K|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Missense_Mutation_p.E283K|KRIT1_uc003ulv.1_Missense_Mutation_p.E283K	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	283					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACTGTCGTTCCCTAATCATT	0.368		NaN							Familial_Cerebral_Cavernous_Angioma				0	0	0	1	0	26	43				
CDK6	1021	broad.mit.edu	37	7	92462443	92462443	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:92462443C>T	uc011khw.1	-	2	607	c.195G>A	c.(193-195)CTG>CTA	p.L65L	CDK6_uc010lez.2_Silent_p.L65L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|skin(1)	2	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706		NaN	T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	5	5				
ZAN	7455	broad.mit.edu	37	7	100364685	100364685	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:100364685C>T	uc003uwj.2	+	25	4830	c.4665C>T	c.(4663-4665)GGC>GGT	p.G1555G	ZAN_uc003uwk.2_Silent_p.G1555G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.G132G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1555	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTTCGATGGCGCCTTGCACC	0.602		NaN											0	0	0	1	0	15	39				
NAMPT	10135	broad.mit.edu	37	7	105909656	105909656	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:105909656C>T	uc003vdq.2	-	5	858	c.550G>A	c.(550-552)GAT>AAT	p.D184N	NAMPT_uc003vdr.1_Missense_Mutation_p.D184N|NAMPT_uc011klu.1_Missense_Mutation_p.D97N	NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	184					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			large_intestine(1)	1						TCCAGACCATCTAAGTTACCA	0.368		NaN											0	0	0	1	0	11	28				
DLD	1738	broad.mit.edu	37	7	107531736	107531736	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:107531736T>A	uc003vet.2	+	1	149	c.39_splice	c.e1+2	p.K13_splice	DLD_uc010ljm.1_Splice_Site|DLD_uc011kmg.1_Splice_Site_p.K13_splice|DLD_uc011kmh.1_Splice_Site_p.K13_splice|DLD_uc011kmi.1_Splice_Site	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor						branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	TTGGCCAAGGTGAGGGCCGAG	0.622		NaN											0	0	0	1	0	12	21				
FOXP2	93986	broad.mit.edu	37	7	114299688	114299688	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:114299688G>T	uc003vhb.2	+	13	1981	c.1607G>T	c.(1606-1608)CGG>CTG	p.R536L	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R561L|FOXP2_uc003vha.2_Missense_Mutation_p.R444L|FOXP2_uc011kmu.1_Missense_Mutation_p.R553L|FOXP2_uc011kmv.1_Missense_Mutation_p.R535L|FOXP2_uc010ljz.1_Missense_Mutation_p.R351L|FOXP2_uc003vhe.1_Missense_Mutation_p.R106L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	536	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TGGTTTACACGGACATTTGCT	0.343		NaN											1	0	0.00621372	1	0.00624553	9	78				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	1	0	14	30				
RBM28	55131	broad.mit.edu	37	7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:127961459G>C	uc003vmp.2	-	14	1538	c.1423C>G	c.(1423-1425)CAG>GAG	p.Q475E	RBM28_uc003vmo.2_Missense_Mutation_p.Q92E|RBM28_uc011koj.1_Missense_Mutation_p.Q334E	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	475					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						TTGAGTTTCTGATGCTTCAGC	0.433		NaN											0	0	0	1	0	15	30				
TNPO3	23534	broad.mit.edu	37	7	128630024	128630024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:128630024G>A	uc003vol.1	-	11	1863	c.1489C>T	c.(1489-1491)CAG>TAG	p.Q497*	TNPO3_uc003vom.1_Nonsense_Mutation_p.Q431*|TNPO3_uc010lly.1_Nonsense_Mutation_p.Q531*|TNPO3_uc010llz.1_Nonsense_Mutation_p.Q497*	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	497					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						CCAAGGAACTGAGGATTTCGA	0.438		NaN											0	0	0	1	0	23	50				
LUC7L2	51631	broad.mit.edu	37	7	139107066	139107066	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:139107066C>T	uc003vux.2	+	10	1533	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	LUC7L2_uc011kqs.1_Missense_Mutation_p.R384C|LUC7L2_uc011kqt.1_Missense_Mutation_p.R453C|LUC7L2_uc003vuy.2_Missense_Mutation_p.R386C|LUC7L2_uc003vva.2_Missense_Mutation_p.R334C	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	387	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CTCTGAAGAGCGCGAAGCAGG	0.468		NaN											0	0	0	1	0	22	73				
EZH2	2146	broad.mit.edu	37	7	148523641	148523641	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:148523641G>T	uc003wfd.1	-	8	978	c.812C>A	c.(811-813)TCT>TAT	p.S271Y	EZH2_uc011kug.1_Missense_Mutation_p.S262Y|EZH2_uc003wfb.1_Missense_Mutation_p.S271Y|EZH2_uc003wfc.1_Missense_Mutation_p.S232Y|EZH2_uc011kuh.1_Missense_Mutation_p.S262Y|EZH2_uc011kui.1_Missense_Mutation_p.S271Y|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	271	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTGAACAGATTTAGCATT	0.423		NaN	Mis		DLBCL								1	0	6.72482e-11	1	6.9612e-11	15	37				
AGAP3	116988	broad.mit.edu	37	7	150817139	150817139	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:150817139C>T	uc003wjg.1	+	8	1038	c.1035C>T	c.(1033-1035)ATC>ATT	p.I345I	AGAP3_uc003wje.1_Silent_p.I117I|AGAP3_uc003wjf.1_Silent_p.I345I|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.I525I|AGAP3_uc003wji.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	309	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						CCCCCAGCATCAGCCAGCGGG	0.652		NaN											0	0	0	1	0	18	12				
NOM1	64434	broad.mit.edu	37	7	156746908	156746908	+	Silent	SNP	C	C	T	rs114285170	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:156746908C>T	uc003wmy.2	+	3	1239	c.1224C>T	c.(1222-1224)TGC>TGT	p.C408C		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	408	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGGTGCCTGCGTCACTGCCT	0.542		NaN											0	0	0	1	0	4	45				
ESYT2	57488	broad.mit.edu	37	7	158557520	158557520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:158557520C>T	uc003wob.1	-	9	1159	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K	ESYT2_uc003woc.1_Missense_Mutation_p.E189K|ESYT2_uc003wod.1_Missense_Mutation_p.E365K|ESYT2_uc003woa.1_5'Flank	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	393	C2 1.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TCCTGAGCTTCAATAAAATGT	0.428		NaN											0	0	0	1	0	34	64				
CSMD1	64478	broad.mit.edu	37	8	4277529	4277529	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:4277529A>G	uc011kwk.1	-	3	751	c.361T>C	c.(361-363)TGG>CGG	p.W121R		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	121	Extracellular (Potential).|CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCGTGAACCACAGAGTGAGG	0.413		NaN											0	0	0	1	0	3	5				
RP1L1	94137	broad.mit.edu	37	8	10467275	10467275	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:10467275C>T	uc003wtc.2	-	4	4562	c.4333G>A	c.(4333-4335)GAG>AAG	p.E1445K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1445					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTGTGCCCTCTGCGGGGCAC	0.632		NaN											0	0	0	1	0	99	126				
LONRF1	91694	broad.mit.edu	37	8	12583256	12583256	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:12583256C>T	uc003wwd.1	-	11	2206	c.2143G>A	c.(2143-2145)GAG>AAG	p.E715K	LONRF1_uc011kxv.1_Missense_Mutation_p.E304K|LONRF1_uc010lsp.1_Missense_Mutation_p.E315K	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	715	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		TCCTCCCTCTCGGGCATTGAT	0.393		NaN											0	0	0	1	0	22	39				
DUSP4	1846	broad.mit.edu	37	8	29197718	29197718	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:29197718G>C	uc003xhm.2	-	2	866	c.476C>G	c.(475-477)TCT>TGT	p.S159C	DUSP4_uc003xhl.2_Missense_Mutation_p.S68C	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	159	Rhodanese.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTGGTTTTAGAACAGAATTC	0.572		NaN									OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	5				
GTF2E2	2961	broad.mit.edu	37	8	30464631	30464631	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:30464631C>T	uc003xig.2	-	6	839	c.586G>A	c.(586-588)GAT>AAT	p.D196N		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	196					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTCTTCTTATCGGGACGATTT	0.308		NaN											0	0	0	1	0	23	16				
PRKDC	5591	broad.mit.edu	37	8	48749802	48749802	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:48749802C>T	uc003xqi.2	-	58	7789	c.7732G>A	c.(7732-7734)GAG>AAG	p.E2578K	PRKDC_uc003xqj.2_Missense_Mutation_p.E2578K|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2578	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAGGATGCTCGAACATGGGG	0.373		NaN						NHEJ					0	0	0	1	0	6	16				
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:53853373C>T	uc011ldu.1	+	1	906	c.906C>T	c.(904-906)CTC>CTT	p.L302L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	302	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652		NaN											0	0	0	1	0	12	35				
TGS1	96764	broad.mit.edu	37	8	56699306	56699306	+	Missense_Mutation	SNP	C	C	A	rs146870824	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:56699306C>A	uc003xsj.3	+	4	1236	c.849C>A	c.(847-849)AAC>AAA	p.N283K	TGS1_uc010lyh.2_Missense_Mutation_p.N187K	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	283					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATGACAAGAACGATGAAAAAT	0.368		NaN											1	0	1.86633e-21	1	1.96298e-21	50	95				
IMPAD1	54928	broad.mit.edu	37	8	57905976	57905976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:57905976C>T	uc003xte.3	-	1	452	c.169G>A	c.(169-171)GAT>AAT	p.D57N		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	57						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTGCCCCCATcggccgcggcc	0.577		NaN											0	0	0	1	0	6	8				
TOX	9760	broad.mit.edu	37	8	59720693	59720693	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:59720693C>T	uc003xtw.1	-	8	1749	c.1528G>A	c.(1528-1530)GAC>AAC	p.D510N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	510						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGCAGTAGTCGTTATTCCAG	0.537		NaN									OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	21	43				
RRS1	23212	broad.mit.edu	37	8	67342183	67342183	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:67342183C>T	uc003xwa.2	+	1	921	c.817C>T	c.(817-819)CGT>TGT	p.R273C	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	273					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGAGCTGCTTCGTGTCATGAA	0.557		NaN											0	0	0	1	0	14	25				
RDH10	157506	broad.mit.edu	37	8	74231361	74231361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:74231361G>C	uc003xzi.2	+	3	816	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	RDH10_uc003xzj.2_Missense_Mutation_p.E21Q|uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	186					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TACGATGCTGGAGATTAATCA	0.383		NaN											0	0	0	1	0	45	78				
LRRCC1	85444	broad.mit.edu	37	8	86048162	86048162	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:86048162G>C	uc003ycw.2	+	14	2447	c.2293G>C	c.(2293-2295)GAA>CAA	p.E765Q	LRRCC1_uc010maa.1_Missense_Mutation_p.E466Q|LRRCC1_uc003ycx.2_Missense_Mutation_p.E672Q|LRRCC1_uc003ycy.2_Missense_Mutation_p.E745Q	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	765					cell division|mitosis	centriole|nucleus					0						TTTAAGGACAGAAAGAAAAGT	0.363		NaN											0	0	0	1	0	20	34				
RAD54B	25788	broad.mit.edu	37	8	95419768	95419768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:95419768C>T	uc003ygk.2	-	5	778	c.680G>A	c.(679-681)TGT>TAT	p.C227Y	RAD54B_uc010may.1_Missense_Mutation_p.C34Y|RAD54B_uc003ygl.1_RNA	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTAGAGAAACATTTCCTGGC	0.428		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	1	0	27	53				
OSR2	116039	broad.mit.edu	37	8	99961579	99961579	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:99961579G>C	uc003yir.2	+	2	934	c.399G>C	c.(397-399)ATG>ATC	p.M133I	OSR2_uc010mbn.2_Missense_Mutation_p.M133I|OSR2_uc003yiq.2_Missense_Mutation_p.M133I|OSR2_uc011lgx.1_Missense_Mutation_p.M254I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	133					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCCTAAGATGGGAGACCTGA	0.612		NaN											0	0	0	1	0	48	103				
FAM83H	286077	broad.mit.edu	37	8	144810877	144810877	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144810877C>G	uc003yzk.2	-	5	823	c.754G>C	c.(754-756)GAG>CAG	p.E252Q	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	252					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGATCTTCTCAAAGGACCAC	0.657		NaN											0	0	0	1	0	13	28				
PLEC	5339	broad.mit.edu	37	8	144995372	144995372	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995372C>G	uc003zaf.1	-	32	9198	c.9028G>C	c.(9028-9030)GAG>CAG	p.E3010Q	PLEC_uc003zab.1_Missense_Mutation_p.E2873Q|PLEC_uc003zac.1_Missense_Mutation_p.E2877Q|PLEC_uc003zad.2_Missense_Mutation_p.E2873Q|PLEC_uc003zae.1_Missense_Mutation_p.E2841Q|PLEC_uc003zag.1_Missense_Mutation_p.E2851Q|PLEC_uc003zah.2_Missense_Mutation_p.E2859Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2900Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3010	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCGGGGTCCTCCACGCAGCGC	0.647		NaN											0	0	0	1	0	41	76				
PLEC	5339	broad.mit.edu	37	8	144995411	144995411	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995411C>T	uc003zaf.1	-	32	9159	c.8989G>A	c.(8989-8991)GAG>AAG	p.E2997K	PLEC_uc003zab.1_Missense_Mutation_p.E2860K|PLEC_uc003zac.1_Missense_Mutation_p.E2864K|PLEC_uc003zad.2_Missense_Mutation_p.E2860K|PLEC_uc003zae.1_Missense_Mutation_p.E2828K|PLEC_uc003zag.1_Missense_Mutation_p.E2838K|PLEC_uc003zah.2_Missense_Mutation_p.E2846K|PLEC_uc003zaj.2_Missense_Mutation_p.E2887K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2997	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGAGGTTCTCGTGCGTGTTG	0.657		NaN											0	0	0	1	0	45	81				
PLEC	5339	broad.mit.edu	37	8	144995865	144995865	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995865C>G	uc003zaf.1	-	32	8705	c.8535G>C	c.(8533-8535)GAG>GAC	p.E2845D	PLEC_uc003zab.1_Missense_Mutation_p.E2708D|PLEC_uc003zac.1_Missense_Mutation_p.E2712D|PLEC_uc003zad.2_Missense_Mutation_p.E2708D|PLEC_uc003zae.1_Missense_Mutation_p.E2676D|PLEC_uc003zag.1_Missense_Mutation_p.E2686D|PLEC_uc003zah.2_Missense_Mutation_p.E2694D|PLEC_uc003zaj.2_Missense_Mutation_p.E2735D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2845	Plectin 1.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACTCAGCTTCTCATTGGTGG	0.672		NaN											0	0	0	1	0	20	39				
PLEC	5339	broad.mit.edu	37	8	144996723	144996723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144996723C>G	uc003zaf.1	-	31	7955	c.7785G>C	c.(7783-7785)GAG>GAC	p.E2595D	PLEC_uc003zab.1_Missense_Mutation_p.E2458D|PLEC_uc003zac.1_Missense_Mutation_p.E2462D|PLEC_uc003zad.2_Missense_Mutation_p.E2458D|PLEC_uc003zae.1_Missense_Mutation_p.E2426D|PLEC_uc003zag.1_Missense_Mutation_p.E2436D|PLEC_uc003zah.2_Missense_Mutation_p.E2444D|PLEC_uc003zaj.2_Missense_Mutation_p.E2485D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2595	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTTCTCCTTCTCACGCTCCA	0.637		NaN											0	0	0	1	0	9	19				
PLEC	5339	broad.mit.edu	37	8	144997295	144997295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144997295C>A	uc003zaf.1	-	31	7383	c.7213G>T	c.(7213-7215)GAG>TAG	p.E2405*	PLEC_uc003zab.1_Nonsense_Mutation_p.E2268*|PLEC_uc003zac.1_Nonsense_Mutation_p.E2272*|PLEC_uc003zad.2_Nonsense_Mutation_p.E2268*|PLEC_uc003zae.1_Nonsense_Mutation_p.E2236*|PLEC_uc003zag.1_Nonsense_Mutation_p.E2246*|PLEC_uc003zah.2_Nonsense_Mutation_p.E2254*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E2295*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2405	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCAGCCTCCTCCTGCAGGAAG	0.642		NaN											1	0	3.07112e-06	1	3.13499e-06	9	21				
PPP1R16A	84988	broad.mit.edu	37	8	145726105	145726105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:145726105G>T	uc003zdd.2	+	8	1781	c.868G>T	c.(868-870)GAC>TAC	p.D290Y	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.D290Y|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	290	ANK 5.					plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACGGGGCCGACCTGAACGC	0.721		NaN											1	0	3.09899e-07	1	3.17444e-07	9	8				
SMARCA2	6595	broad.mit.edu	37	9	2115859	2115859	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:2115859A>C	uc003zhc.2	+	25	3593	c.3494A>C	c.(3493-3495)CAG>CCG	p.Q1165P	SMARCA2_uc003zhd.2_Missense_Mutation_p.Q1165P|SMARCA2_uc010mha.2_Missense_Mutation_p.Q1098P	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1165	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGCATCGGGCAGCAGAACGAG	0.562		NaN											0	0	0	1	0	9	8		Valid		
C9orf102	375748	broad.mit.edu	37	9	98660209	98660209	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:98660209C>T	uc004avt.3	+	3	971	c.583C>T	c.(583-585)CTA>TTA	p.L195L	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	195	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				AGAGTTTTTACTAAGAAGTAT	0.338		NaN											0	0	0	1	0	31	62				
KIAA1529	57653	broad.mit.edu	37	9	100092767	100092767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100092767C>G	uc011lut.1	+	30	3314	c.2541C>G	c.(2539-2541)TTC>TTG	p.F847L	KIAA1529_uc004axe.1_Missense_Mutation_p.F847L|KIAA1529_uc004axg.1_Missense_Mutation_p.F708L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.F32L|KIAA1529_uc011lus.1_Missense_Mutation_p.F665L|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.F708L|KIAA1529_uc011luv.1_Missense_Mutation_p.F705L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TGGAGTCCTTCATAACTGAAG	0.463		NaN											0	0	0	1	0	16	36				
TRIM14	9830	broad.mit.edu	37	9	100850218	100850218	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100850218G>T	uc004ayd.2	-	6	881	c.863C>A	c.(862-864)ACG>AAG	p.T288K	TRIM14_uc004ayf.1_Missense_Mutation_p.T195K|TRIM14_uc011luz.1_Missense_Mutation_p.T66K|TRIM14_uc011lva.1_Missense_Mutation_p.T69K|TRIM14_uc004ayg.1_Missense_Mutation_p.T288K|TRIM14_uc004ayh.1_Missense_Mutation_p.T288K|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.T195K	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	288	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GCAGCGCACCGTCAGGCGATC	0.736		NaN											1	0	0.115264	1	0.115264	3	8				
LCN2	3934	broad.mit.edu	37	9	130911943	130911943	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:130911943G>A	uc004bto.1	+	1	211	c.138_splice	c.e1+1	p.Q46_splice	LCN2_uc010mxq.1_Splice_Site_p.Q46_splice|LCN2_uc011map.1_Splice_Site_p.Q46_splice	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor						apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GGACAACCAAGTAAGGGGCCA	0.637		NaN											0	0	0	1	0	18	33				
SPTAN1	6709	broad.mit.edu	37	9	131392643	131392643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:131392643G>A	uc004bvl.3	+	51	6849	c.6736G>A	c.(6736-6738)GAA>AAA	p.E2246K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2251K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2226K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E13K|SPTAN1_uc004bvp.3_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2246	Spectrin 23.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATCCCAGCTTGAAGCTACCAA	0.607		NaN											0	0	0	1	0	22	33				
ABL1	25	broad.mit.edu	37	9	133759700	133759700	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:133759700G>A	uc004bzw.2	+	11	2026	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	ABL1_uc004bzv.2_Missense_Mutation_p.E694K	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	675					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCCCTCCGGGAGTCCGGGGG	0.682		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	1	0	20	24				
TSC1	7248	broad.mit.edu	37	9	135781455	135781455	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:135781455C>T	uc004cca.2	-	15	1744	c.1510G>A	c.(1510-1512)GAC>AAC	p.D504N	TSC1_uc004ccb.3_Missense_Mutation_p.D503N|TSC1_uc011mcq.1_Missense_Mutation_p.D453N|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	504					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGGGAGAGTCAAAGCCTCCT	0.532		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	1	0	11	23		Valid		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:137328351C>T	uc004cfb.2	+	10	1442	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	RXRA_uc004cfc.1_Missense_Mutation_p.S330F	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											0	0	0	1	0	25	48		Valid		
ANAPC2	29882	broad.mit.edu	37	9	140069557	140069557	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140069557G>A	uc004clr.1	-	13	2379	c.2306C>T	c.(2305-2307)TCA>TTA	p.S769L	ANAPC2_uc004clq.1_Missense_Mutation_p.S625L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	769					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACGATCCAGTGAGAGGCTCTC	0.622		NaN											0	0	0	1	0	3	11				
MRPL41	64975	broad.mit.edu	37	9	140446839	140446839	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140446839G>A	uc004cnh.3	+	2	436	c.306G>A	c.(304-306)AAG>AAA	p.K102K	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	102					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCATCGAAAAGGACTTCAAGG	0.612		NaN											0	0	0	1	0	13	18				
NHS	4810	broad.mit.edu	37	X	17746218	17746218	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:17746218C>G	uc004cxx.2	+	6	4267	c.3929C>G	c.(3928-3930)ACT>AGT	p.T1310S	NHS_uc011mix.1_Missense_Mutation_p.T1331S|NHS_uc004cxy.2_Missense_Mutation_p.T1154S|NHS_uc004cxz.2_Missense_Mutation_p.T1133S|NHS_uc004cya.2_Missense_Mutation_p.T1033S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1310						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					GACTCACCAACTAGAGCAACA	0.443		NaN											0	0	0	1	0	49	20				
ZNF182	7569	broad.mit.edu	37	X	47842407	47842407	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:47842407G>A	uc004dir.2	-	6	577	c.231C>T	c.(229-231)CTC>CTT	p.L77L	ZNF182_uc004dis.2_Silent_p.L58L|ZNF182_uc004dit.2_Silent_p.L77L|ZNF182_uc011mlu.1_Silent_p.L58L	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CCTCCAACTTGAGGATGAGGT	0.463		NaN											0	0	0	1	0	26	4				
DGKK	139189	broad.mit.edu	37	X	50213550	50213550	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:50213550G>A	uc010njr.1	-	1	188	c.128C>T	c.(127-129)CCG>CTG	p.P43L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	43					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GAgcagcggcggagccggcgg	0.433		NaN											0	0	0	1	0	20	9				
HTATSF1	27336	broad.mit.edu	37	X	135579901	135579901	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:135579901G>A	uc004ezw.2	+	2	480	c.58G>A	c.(58-60)GAA>AAA	p.E20K	HTATSF1_uc004ezx.2_Missense_Mutation_p.E20K	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	20					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCGAATGCAAGAATTGTACGG	0.557		NaN											0	0	0	1	0	39	14				
FUNDC2	65991	broad.mit.edu	37	X	154282927	154282927	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:154282927C>A	uc004fmw.2	+	5	700	c.550C>A	c.(550-552)CTG>ATG	p.L184M		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448		NaN											1	0	2.81731e-22	1	2.9685e-22	51	25				
PLCH2	9651	broad.mit.edu	37	1	2419057	2419057	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:2419057G>A	uc001aji.1	+	8	1409	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N	PLCH2_uc010nyz.1_Missense_Mutation_p.D167N|PLCH2_uc009vle.1_Missense_Mutation_p.D167N|PLCH2_uc001ajj.1_Missense_Mutation_p.D167N|PLCH2_uc001ajk.1_Missense_Mutation_p.D167N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	379	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGATGGGCCCGACGGGGAGCC	0.567		NaN											0	0	0	1	0	4	25				
RHCE	6006	broad.mit.edu	37	1	25729193	25729193	+	Missense_Mutation	SNP	G	G	A	rs1053346		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:25729193G>A	uc001bkf.2	-	3	466	c.380C>T	c.(379-381)GCG>GTG	p.A127V	RHCE_uc001bkg.2_Missense_Mutation_p.A127V|RHCE_uc001bkh.2_Missense_Mutation_p.A127V|RHCE_uc001bki.2_Missense_Mutation_p.A127V|RHCE_uc001bkj.2_Missense_Mutation_p.A111V	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	127	Helical; (Potential).					integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCACCCGCTGAGATCAG	0.537		NaN											0	0	0	1	0	23	31				
MACF1	23499	broad.mit.edu	37	1	39824382	39824382	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824382G>C	uc010oiu.1	+	10	7408	c.7277G>C	c.(7276-7278)GGA>GCA	p.G2426A	MACF1_uc010ois.1_Missense_Mutation_p.G1924A|MACF1_uc001cda.1_Missense_Mutation_p.G1832A|MACF1_uc001cdc.1_Missense_Mutation_p.G1011A|MACF1_uc001cdb.1_Missense_Mutation_p.G1011A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3991					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACGATTAGGATCTCACCTG	0.502		NaN											0	0	0	1	0	16	38				
MACF1	23499	broad.mit.edu	37	1	39824525	39824525	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824525G>C	uc010oiu.1	+	10	7551	c.7420G>C	c.(7420-7422)GAG>CAG	p.E2474Q	MACF1_uc010ois.1_Missense_Mutation_p.E1972Q|MACF1_uc001cda.1_Missense_Mutation_p.E1880Q|MACF1_uc001cdc.1_Missense_Mutation_p.E1059Q|MACF1_uc001cdb.1_Missense_Mutation_p.E1059Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4039	Spectrin 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTCTCCAGGAGCAGCTTGC	0.512		NaN											0	0	0	1	0	15	42				
MACF1	23499	broad.mit.edu	37	1	39824885	39824885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:39824885G>A	uc010oiu.1	+	11	7644	c.7513G>A	c.(7513-7515)GAA>AAA	p.E2505K	MACF1_uc010ois.1_Missense_Mutation_p.E2003K|MACF1_uc001cda.1_Missense_Mutation_p.E1911K|MACF1_uc001cdc.1_Missense_Mutation_p.E1090K|MACF1_uc001cdb.1_Missense_Mutation_p.E1090K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4070	Spectrin 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACATAATGGAAATTGAAGG	0.423		NaN											0	0	0	1	0	16	62				
ZMPSTE24	10269	broad.mit.edu	37	1	40737653	40737653	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:40737653G>A	uc001cfg.2	+	6	926	c.715G>A	c.(715-717)GAA>AAA	p.E239K		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	239						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGAAGAAATTGAAGTAATGGC	0.373		NaN											0	0	0	1	0	18	90				
IPO13	9670	broad.mit.edu	37	1	44424184	44424184	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:44424184C>T	uc001ckx.2	+	10	2596	c.1801C>T	c.(1801-1803)CTT>TTT	p.L601F		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	601	HEAT 10.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTGTCAGCTCTTCAAGTGGA	0.552		NaN											0	0	0	1	0	9	96				
FOXD2	2306	broad.mit.edu	37	1	47904362	47904362	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:47904362C>G	uc001crm.2	+	1	2674	c.555C>G	c.(553-555)TTC>TTG	p.F185L		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	185	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		ACGACTGCTTCGTCAAGATCC	0.637		NaN											0	0	0	1	0	28	81				
INADL	10207	broad.mit.edu	37	1	62263049	62263049	+	Nonsense_Mutation	SNP	C	C	T	rs117405402	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:62263049C>T	uc001dab.2	+	11	1465	c.1351C>T	c.(1351-1353)CGA>TGA	p.R451*	INADL_uc009waf.1_Nonsense_Mutation_p.R451*|INADL_uc001daa.2_Nonsense_Mutation_p.R451*|INADL_uc001dad.3_Nonsense_Mutation_p.R148*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	451	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						AACCCTAGTTCGAAGGAAGAC	0.448		NaN											0	0	0	1	0	33	84				
PDE4B	5142	broad.mit.edu	37	1	66834533	66834533	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:66834533C>T	uc001dcn.2	+	16	1917	c.1726C>T	c.(1726-1728)CGG>TGG	p.R576W	PDE4B_uc009war.2_Missense_Mutation_p.R484W|PDE4B_uc001dco.2_Missense_Mutation_p.R576W|PDE4B_uc001dcp.2_Missense_Mutation_p.R561W|PDE4B_uc001dcq.2_Missense_Mutation_p.R404W|PDE4B_uc009was.2_Missense_Mutation_p.R343W	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	576					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GGAATTGTATCGGCAATGGAC	0.463		NaN											0	0	0	1	0	16	70				
SERBP1	26135	broad.mit.edu	37	1	67890585	67890585	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:67890585G>A	uc001ddv.2	-	4	821	c.681C>T	c.(679-681)GTC>GTT	p.V227V	SERBP1_uc001ddx.2_Silent_p.V221V|SERBP1_uc001ddy.2_Silent_p.V221V|SERBP1_uc001ddw.2_Silent_p.V227V	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	227					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						ATTCGTCTTTGACAGTTCCCC	0.368		NaN											0	0	0	1	0	34	59				
LRRC7	57554	broad.mit.edu	37	1	70504079	70504079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:70504079C>T	uc001dep.2	+	19	2488	c.2458C>T	c.(2458-2460)CCC>TCC	p.P820S	LRRC7_uc009wbg.2_Missense_Mutation_p.P104S|LRRC7_uc001deq.2_Missense_Mutation_p.P61S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	820						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGTTGGTGTTCCCCTGGAACT	0.493		NaN											0	0	0	1	0	29	59				
GBP5	115362	broad.mit.edu	37	1	89735197	89735197	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:89735197G>A	uc001dnc.2	-	3	579	c.42C>T	c.(40-42)ATC>ATT	p.I14I	GBP5_uc001dnd.2_Silent_p.I14I|GBP5_uc001dne.1_Silent_p.I14I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	14						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478		NaN											0	0	0	1	0	44	132				
BRDT	676	broad.mit.edu	37	1	92459724	92459724	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:92459724C>T	uc001dok.3	+	15	2549	c.2200C>T	c.(2200-2202)CAC>TAC	p.H734Y	BRDT_uc001dol.3_Missense_Mutation_p.H734Y|BRDT_uc010osz.1_Missense_Mutation_p.H738Y|BRDT_uc009wdf.2_Missense_Mutation_p.H661Y|BRDT_uc010ota.1_Missense_Mutation_p.H688Y|BRDT_uc010otb.1_Missense_Mutation_p.H688Y|BRDT_uc001dom.3_Missense_Mutation_p.H734Y	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCCACCAAATCACCACCAATT	0.363		NaN											0	0	0	1	0	18	83				
DNTTIP2	30836	broad.mit.edu	37	1	94343201	94343201	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:94343201G>A	uc001dqf.2	-	2	328	c.290C>T	c.(289-291)TCT>TTT	p.S97F	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATGGTGCTCAGACACAGAATA	0.458		NaN											0	0	0	1	0	11	42				
AGL	178	broad.mit.edu	37	1	100358047	100358047	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:100358047G>T	uc001dsi.1	+	24	3543	c.3143G>T	c.(3142-3144)TGT>TTT	p.C1048F	AGL_uc001dsj.1_Missense_Mutation_p.C1048F|AGL_uc001dsk.1_Missense_Mutation_p.C1048F|AGL_uc001dsl.1_Missense_Mutation_p.C1048F|AGL_uc001dsm.1_Missense_Mutation_p.C1032F|AGL_uc001dsn.1_Missense_Mutation_p.C1031F	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1048	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTCAACTGTGTGGAGTAGGA	0.368		NaN											1	0	2.32078e-09	1	2.41399e-09	15	40				
CCDC76	54482	broad.mit.edu	37	1	100614274	100614274	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:100614274C>T	uc001dsv.2	+	11	1363	c.1344C>T	c.(1342-1344)TTC>TTT	p.F448F	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	448					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AGAAGGGATTCAGTCCTGCTT	0.383		NaN											0	0	0	1	0	16	63				
EXTL2	2135	broad.mit.edu	37	1	101343047	101343047	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:101343047C>T	uc001dtk.1	-	3	755	c.418G>A	c.(418-420)GAA>AAA	p.E140K	EXTL2_uc001dtl.1_Missense_Mutation_p.E140K|EXTL2_uc010ouk.1_Missense_Mutation_p.E127K|EXTL2_uc001dtm.1_Missense_Mutation_p.E140K	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	140	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTTTCCAGTTCAGGAAAGACC	0.488		NaN											0	0	0	1	0	13	48				
KCNA3	3738	broad.mit.edu	37	1	111216259	111216259	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:111216259C>G	uc001dzv.1	-	1	1397	c.1173G>C	c.(1171-1173)CTG>CTC	p.L391L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	391						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGACGCCTTCAGCGTTTGCC	0.587		NaN											0	0	0	1	0	28	83				
PTPN22	26191	broad.mit.edu	37	1	114380755	114380755	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:114380755C>T	uc001eds.2	-	13	1397	c.1267G>A	c.(1267-1269)GAG>AAG	p.E423K	PTPN22_uc009wgq.2_Missense_Mutation_p.E368K|PTPN22_uc010owo.1_Missense_Mutation_p.E179K|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E423K|PTPN22_uc009wgs.2_Missense_Mutation_p.E296K|PTPN22_uc001edu.2_Missense_Mutation_p.E423K	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	423					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACATCCCTCAAACAAAAGA	0.388		NaN											0	0	0	1	0	19	51				
HSD3B2	3284	broad.mit.edu	37	1	119962079	119962079	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:119962079G>C	uc001ehs.2	+	2	954	c.181G>C	c.(181-183)GAC>CAC	p.D61H	HSD3B2_uc001eht.2_Missense_Mutation_p.D61H|HSD3B2_uc001ehu.2_Missense_Mutation_p.D61H	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	61					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACTTGAAGGAGACATTCTGGA	0.493		NaN											0	0	0	1	0	11	35				
HSD3B2	3284	broad.mit.edu	37	1	119965133	119965133	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:119965133C>G	uc001ehs.2	+	3	1782	c.1009C>G	c.(1009-1011)CTG>GTG	p.L337V	HSD3B2_uc001eht.2_Missense_Mutation_p.L337V|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	337					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCAGCGAGATCTGGCGTATAA	0.512		NaN											0	0	0	1	0	14	47				
HSD3B1	3283	broad.mit.edu	37	1	120056980	120056980	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:120056980C>T	uc001ehv.1	+	4	979	c.834C>T	c.(832-834)CTC>CTT	p.L278L	HSD3B1_uc001ehw.2_Silent_p.L280L	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	278					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AGTTCGGCCTCCGCCTTGATT	0.473		NaN											0	0	0	1	0	8	152				
ADAM30	11085	broad.mit.edu	37	1	120438233	120438233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:120438233C>T	uc001eij.2	-	1	881	c.727G>A	c.(727-729)GAT>AAT	p.D243N		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	243	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATACGAACATCTTGAAAGTAG	0.368		NaN											0	0	0	1	0	23	70				
PDE4DIP	9659	broad.mit.edu	37	1	144857639	144857639	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:144857639C>G	uc001elw.3	-	39	6706	c.6415G>C	c.(6415-6417)GAA>CAA	p.E2139Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E2033Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E1146Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2139					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGGGCGTTTCTGAGCCAGGA	0.488		NaN	T	PDGFRB	MPD								0	0	0	1	0	12	254				
TXNIP	10628	broad.mit.edu	37	1	145439622	145439622	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:145439622G>A	uc001enn.3	+	2	621	c.280G>A	c.(280-282)GGA>AGA	p.G94R	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.G39R	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	94					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGAGACCTGGAAACAAATA	0.398		NaN											0	0	0	1	0	33	122		Valid		
ANKRD35	148741	broad.mit.edu	37	1	145567755	145567755	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:145567755G>A	uc001eob.1	+	13	3113	c.3005G>A	c.(3004-3006)TGA>TAA	p.*1002*	NBPF10_uc001emp.3_Intron	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	1002										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAGAGGAGTGAGGCAGCCTC	0.478		NaN											0	0	0	1	0	39	117				
ECM1	1893	broad.mit.edu	37	1	150484937	150484937	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:150484937G>A	uc001eus.2	+	8	1392	c.1193G>A	c.(1192-1194)CGT>CAT	p.R398H	ECM1_uc001eut.2_Missense_Mutation_p.R273H|ECM1_uc001euu.2_Missense_Mutation_p.R427H|ECM1_uc001euv.2_Missense_Mutation_p.R425H|ECM1_uc009wlu.2_Missense_Mutation_p.R158H	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	398	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCTTTGCCCGTCGGGCTCCT	0.567		NaN											0	0	0	1	0	23	104				
FAM63A	55793	broad.mit.edu	37	1	150972348	150972348	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:150972348G>A	uc001ewf.2	-	7	2512	c.828C>T	c.(826-828)CTC>CTT	p.L276L	FAM63A_uc001ewc.2_Silent_p.L134L|FAM63A_uc010pcm.1_Silent_p.L181L|FAM63A_uc001ewd.2_Silent_p.L134L|FAM63A_uc001ewe.2_Silent_p.L110L|FAM63A_uc010pcn.1_Silent_p.L324L|FAM63A_uc001ewg.2_Silent_p.L276L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	276							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCTGTCACGAGGTTGGTGT	0.418		NaN											0	0	0	1	0	8	39				
MTX1	4580	broad.mit.edu	37	1	155181948	155181948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155181948C>T	uc001fjb.2	+	4	815	c.709C>T	c.(709-711)CGG>TGG	p.R237W	RAG1AP1_uc010pey.1_Intron|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Intron	NM_002455	NP_002446	Q13505	MTX1_HUMAN	metaxin 1 isoform 1	237					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			skin(1)	1	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTGTCAGCTCGGCAAGGGGC	0.577		NaN											0	0	0	1	0	7	80				
ASH1L	55870	broad.mit.edu	37	1	155340407	155340407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155340407C>T	uc009wqq.2	-	12	7069	c.6589G>A	c.(6589-6591)GAC>AAC	p.D2197N	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2192N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2197	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTAGTGGTCACTGTGATTA	0.408		NaN											0	0	0	1	0	21	95				
MSTO1	55154	broad.mit.edu	37	1	155582954	155582954	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155582954G>A	uc001fky.2	+	11	1246	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	MSTO1_uc001fkw.2_Missense_Mutation_p.E405K|MSTO1_uc001fkx.2_Missense_Mutation_p.E405K|MSTO1_uc001fla.2_Missense_Mutation_p.E224K|MSTO1_uc001fkz.2_Missense_Mutation_p.E336K|MSTO1_uc001fld.3_Missense_Mutation_p.E227K|MSTO1_uc009wqs.2_Missense_Mutation_p.E284K|MSTO1_uc010pgf.1_Missense_Mutation_p.E350K|MSTO1_uc001flb.2_Missense_Mutation_p.E274K|MSTO1_uc001flc.2_Missense_Mutation_p.E227K	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	misato	405					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex					0	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TGCATGTGGGGAGCCTTCTGG	0.567		NaN											0	0	0	1	0	19	84				
GON4L	54856	broad.mit.edu	37	1	155784175	155784175	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:155784175C>G	uc001flz.2	-	9	1324	c.1227G>C	c.(1225-1227)TTG>TTC	p.L409F	GON4L_uc001fly.1_Missense_Mutation_p.L409F|GON4L_uc009wrh.1_Missense_Mutation_p.L409F|GON4L_uc001fma.1_Missense_Mutation_p.L409F|GON4L_uc001fmc.2_Missense_Mutation_p.L409F|GON4L_uc001fmd.3_Missense_Mutation_p.L409F|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.L237F|GON4L_uc001fmf.2_Missense_Mutation_p.L103F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	409					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGACTGCCTCAATCTGGATT	0.393		NaN											0	0	0	1	0	24	107				
ETV3	2117	broad.mit.edu	37	1	157105486	157105486	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:157105486C>T	uc001fqr.2	-	3	350	c.61G>A	c.(61-63)GAC>AAC	p.D21N	ETV3_uc001fqt.2_Missense_Mutation_p.D21N	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	ets variant gene 3 isoform 1	21							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TAGGCCCAGTCAGGAAACTGA	0.507		NaN											0	0	0	1	0	26	79				
SPTA1	6708	broad.mit.edu	37	1	158647509	158647509	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:158647509C>T	uc001fst.1	-	7	1127	c.928G>A	c.(928-930)GAG>AAG	p.E310K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	310	Spectrin 4.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGATTTCTCTCAAGTCCCTTG	0.453		NaN											0	0	0	1	0	12	39				
ATP1A2	477	broad.mit.edu	37	1	160097482	160097482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:160097482G>A	uc001fvc.2	+	8	1021	c.889G>A	c.(889-891)GCT>ACT	p.A297T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A297T|ATP1A2_uc010piz.1_Missense_Mutation_p.A142T|ATP1A2_uc001fvd.2_Missense_Mutation_p.A33T|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	297	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGGGTCGCTGTATTCCT	0.577		NaN											0	0	0	1	0	36	141				
ADCY10	55811	broad.mit.edu	37	1	167798547	167798547	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:167798547C>T	uc001ger.2	-	26	4006	c.3708G>A	c.(3706-3708)ATG>ATA	p.M1236I	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.M1144I|ADCY10_uc010plj.1_Missense_Mutation_p.M1083I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1236					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TCATTTGCATCATAACTGCCA	0.413		NaN											0	0	0	1	0	26	89				
FMO3	2328	broad.mit.edu	37	1	171083364	171083364	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:171083364G>A	uc001ghi.2	+	7	1156	c.1045G>A	c.(1045-1047)GAG>AAG	p.E349K	FMO3_uc001ghh.2_Missense_Mutation_p.E349K|FMO3_uc010pmb.1_Missense_Mutation_p.E329K|FMO3_uc010pmc.1_Missense_Mutation_p.E286K	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	349					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGAAACAATGAGATCATTTT	0.428		NaN											0	0	0	1	0	26	59				
PRDX6	9588	broad.mit.edu	37	1	173455466	173455466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:173455466G>A	uc001giy.1	+	4	523	c.472G>A	c.(472-474)GAT>AAT	p.D158N		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	158	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						CAGGAACTTTGATGAGATTCT	0.443		NaN											0	0	0	1	0	55	181				
RC3H1	149041	broad.mit.edu	37	1	173952637	173952637	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:173952637G>C	uc001gju.3	-	3	598	c.511C>G	c.(511-513)CTC>GTC	p.L171V	RC3H1_uc010pms.1_Missense_Mutation_p.L171V|RC3H1_uc001gjv.2_Missense_Mutation_p.L171V|RC3H1_uc010pmt.1_Missense_Mutation_p.L171V	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	171					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TGGTGCTGGAGAATGAGCTCT	0.483		NaN											0	0	0	1	0	20	85				
ASTN1	460	broad.mit.edu	37	1	176833621	176833621	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:176833621G>C	uc001glc.2	-	23	3896	c.3684C>G	c.(3682-3684)CTC>CTG	p.L1228L	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1236					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						ACCAACTGCTGAGGTCCCCAA	0.522		NaN											0	0	0	1	0	15	52				
ARPC5	10092	broad.mit.edu	37	1	183599601	183599601	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183599601C>T	uc001gql.2	-	3	579	c.388G>A	c.(388-390)GAA>AAA	p.E130K		NM_005717	NP_005708	O15511	ARPC5_HUMAN	actin related protein 2/3 complex subunit 5	130					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton				0						CTTACCTTTTCATGCCATTGC	0.348		NaN											0	0	0	1	0	12	53				
RGL1	23179	broad.mit.edu	37	1	183853908	183853908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183853908C>T	uc001gqo.2	+	7	944	c.787C>T	c.(787-789)CGA>TGA	p.R263*	RGL1_uc010pof.1_Nonsense_Mutation_p.R68*|RGL1_uc001gqm.2_Nonsense_Mutation_p.R298*|RGL1_uc010pog.1_Nonsense_Mutation_p.R261*|RGL1_uc010poh.1_Nonsense_Mutation_p.R261*|RGL1_uc010poi.1_Nonsense_Mutation_p.R263*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	263	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CATTTGGTCTCGAAGGGATAA	0.458		NaN											0	0	0	1	0	22	68				
GLT25D2	23127	broad.mit.edu	37	1	183920242	183920242	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:183920242G>A	uc001gqr.2	-	8	1407	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F	GLT25D2_uc010poj.1_Silent_p.F345F|GLT25D2_uc001gqq.2_Silent_p.F82F|GLT25D2_uc001gqs.2_Silent_p.F225F	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	345					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						GGTTTATCATGAAAATCTAAT	0.403		NaN											0	0	0	1	0	72	109				
PRG4	10216	broad.mit.edu	37	1	186281364	186281364	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:186281364G>A	uc001gru.3	+	11	3902	c.3851G>A	c.(3850-3852)AGA>AAA	p.R1284K	PRG4_uc001grt.3_Missense_Mutation_p.R1243K|PRG4_uc009wyl.2_Missense_Mutation_p.R1191K|PRG4_uc009wym.2_Missense_Mutation_p.R1150K|PRG4_uc010poo.1_RNA|TPR_uc001grv.2_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1284					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCCCTGGAAGAAGGCCTGCT	0.403		NaN											0	0	0	1	0	57	71				
TPR	7175	broad.mit.edu	37	1	186313156	186313156	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:186313156G>C	uc001grv.2	-	26	3781	c.3484C>G	c.(3484-3486)CAG>GAG	p.Q1162E		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1162	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCGATCTGATCATGAAGT	0.393		NaN	T	NTRK1	papillary thyroid								0	0	0	1	0	10	48				
KCNT2	343450	broad.mit.edu	37	1	196397285	196397285	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:196397285C>G	uc001gtd.1	-	10	994	c.934G>C	c.(934-936)GAT>CAT	p.D312H	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.D312H|KCNT2_uc001gtf.1_Missense_Mutation_p.D312H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.D312H|KCNT2_uc009wyv.1_Missense_Mutation_p.D287H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	312	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						ATAAGTAAATCAATCTTCAGT	0.373		NaN											0	0	0	1	0	20	72				
CFHR2	3080	broad.mit.edu	37	1	196928035	196928035	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:196928035T>C	uc001gtq.1	+	5	715	c.638T>C	c.(637-639)ATT>ACT	p.I213T	CFHR2_uc001gtr.1_Missense_Mutation_p.I89T	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	213	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						TCACAAGAAATTATGGAAAAA	0.274		NaN											0	0	0	1	0	8	31				
CHIT1	1118	broad.mit.edu	37	1	203191375	203191375	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:203191375G>C	uc001gzn.2	-	7	780	c.684C>G	c.(682-684)CTC>CTG	p.L228L	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Silent_p.L19L|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.L219L	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	228					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GCCTCTTGTAGAGGGGGCTGT	0.577		NaN											0	0	0	1	0	19	54				
ATP2B4	493	broad.mit.edu	37	1	203693083	203693083	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:203693083C>T	uc001gzw.2	+	19	3983	c.3099C>T	c.(3097-3099)CTC>CTT	p.L1033L	ATP2B4_uc001gzv.2_Silent_p.L1033L|ATP2B4_uc009xaq.2_Silent_p.L1033L|ATP2B4_uc001gzx.2_Silent_p.L64L|ATP2B4_uc009xar.2_Intron	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1033	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGGTGTCTCTTCATTGGGA	0.532		NaN											0	0	0	1	0	24	100				
TLR5	7100	broad.mit.edu	37	1	223285449	223285449	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:223285449C>T	uc001hnv.1	-	4	1371	c.925G>A	c.(925-927)GAG>AAG	p.E309K	TLR5_uc001hnw.1_Missense_Mutation_p.E309K	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	309	Extracellular (Potential).|LRR 5.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		TTGAGTGTCTCAAAGACTCGT	0.443		NaN											0	0	0	1	0	51	62				
PARP1	142	broad.mit.edu	37	1	226566910	226566910	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:226566910C>G	uc001hqd.3	-	12	1849	c.1678G>C	c.(1678-1680)GTG>CTG	p.V560L		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	560					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ACGATGTCCACCAGGCCAAGG	0.527		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	1	0	59	109				
ACTN2	88	broad.mit.edu	37	1	236908074	236908074	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:236908074C>G	uc001hyf.2	+	12	1608	c.1404C>G	c.(1402-1404)CTC>CTG	p.L468L	ACTN2_uc001hyg.2_Silent_p.L260L|ACTN2_uc009xgi.1_Silent_p.L468L|ACTN2_uc010pxu.1_Silent_p.L157L|ACTN2_uc001hyh.2_Silent_p.L156L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	468	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCAGGAGCTCAAGTATGTGC	0.647		NaN											0	0	0	1	0	12	48				
OR1C1	26188	broad.mit.edu	37	1	247920938	247920938	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:247920938G>A	uc010pza.1	-	1	771	c.771C>T	c.(769-771)GCC>GCT	p.A257A		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAATAGACGGCGATGGCTG	0.512		NaN											0	0	0	1	0	25	53				
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr1:248308805C>G	uc010pze.1	+	1	356	c.356C>G	c.(355-357)TCT>TGT	p.S119C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453		NaN											0	0	0	1	0	116	354				
SFMBT2	57713	broad.mit.edu	37	10	7262479	7262479	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:7262479G>A	uc009xio.1	-	11	1315	c.1224C>T	c.(1222-1224)TTC>TTT	p.F408F	SFMBT2_uc001ijn.1_Silent_p.F408F|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	408	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TGTTCTTTGTGAAACCTCGAC	0.502		NaN											0	0	0	1	0	18	70				
ARHGAP12	94134	broad.mit.edu	37	10	32097634	32097634	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:32097634C>A	uc001ivz.1	-	19	2579	c.2309G>T	c.(2308-2310)AGA>ATA	p.R770I	ARHGAP12_uc001ivy.1_Missense_Mutation_p.R716I|ARHGAP12_uc009xls.2_Missense_Mutation_p.R721I|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R763I|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R738I|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R691I|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Missense_Mutation_p.R69I	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	770	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TGGCAACTGTCTGATTAGGTC	0.388		NaN											1	0	2.74695e-27	1	2.91582e-27	47	136				
MAPK8	5599	broad.mit.edu	37	10	49633961	49633961	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:49633961A>G	uc009xnz.2	+	8	943	c.719A>G	c.(718-720)CAG>CGG	p.Q240R	MAPK8_uc001jgl.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgm.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgo.2_Missense_Mutation_p.Q240R|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.Q240R|MAPK8_uc010qgk.1_Missense_Mutation_p.Q240R|MAPK8_uc001jgp.2_Missense_Mutation_p.Q240R|MAPK8_uc001jgq.2_Missense_Mutation_p.Q240R	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	240	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GTTATTGAACAGCTTGGAACA	0.318		NaN											0	0	0	1	0	9	44				
A1CF	29974	broad.mit.edu	37	10	52619618	52619618	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:52619618C>G	uc001jjj.2	-	3	271	c.83G>C	c.(82-84)GGA>GCA	p.G28A	A1CF_uc010qhn.1_5'UTR|A1CF_uc001jji.2_Missense_Mutation_p.G28A|A1CF_uc001jjh.2_5'UTR|A1CF_uc010qho.1_5'UTR|A1CF_uc009xov.2_Missense_Mutation_p.G28A|A1CF_uc001jjk.1_Missense_Mutation_p.G28A	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	28					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						CAAGCTATATCCTGTGCGCTG	0.498		NaN											0	0	0	1	0	15	43				
CDH23	64072	broad.mit.edu	37	10	73326687	73326687	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:73326687C>T	uc001jrx.3	+	7	995	c.618C>T	c.(616-618)AAC>AAT	p.N206N	CDH23_uc001jrw.3_Silent_p.N206N|CDH23_uc001jrv.2_Silent_p.N201N|CDH23_uc009xql.2_Silent_p.N251N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	206	Cadherin 2.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCACGGTCAACGCCACAGTGA	0.627		NaN											0	0	0	1	0	4	24				
KIF20B	9585	broad.mit.edu	37	10	91487639	91487639	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:91487639G>C	uc001kgs.1	+	17	2329	c.2257G>C	c.(2257-2259)GAG>CAG	p.E753Q	KIF20B_uc001kgr.1_Missense_Mutation_p.E713Q|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	753	Potential.			E -> K (in Ref. 1; BAB69456).	cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						TCAAGAGCTTGAGACATCTAA	0.244		NaN											0	0	0	1	0	4	21				
CRTAC1	55118	broad.mit.edu	37	10	99770957	99770957	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:99770957G>C	uc001kou.1	-	2	518	c.162C>G	c.(160-162)CTC>CTG	p.L54L	CRTAC1_uc001kov.2_Silent_p.L43L	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	54	FG-GAP 1; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CACCATAGTTGAGCTGGGTGG	0.537		NaN											0	0	0	1	0	35	83				
C10orf28	27291	broad.mit.edu	37	10	99969078	99969078	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:99969078G>C	uc001kow.3	+	4	1502	c.1207G>C	c.(1207-1209)GAT>CAT	p.D403H	C10orf28_uc001kox.3_Missense_Mutation_p.D403H|C10orf28_uc001koy.3_Missense_Mutation_p.D403H|C10orf28_uc009xvx.2_Missense_Mutation_p.D403H|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	403							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TAGAATAGCTGATGAGACCTC	0.398		NaN											0	0	0	1	0	41	100				
CHUK	1147	broad.mit.edu	37	10	101981902	101981902	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:101981902C>G	uc001kqp.2	-	4	407	c.352G>C	c.(352-354)GAA>CAA	p.E118Q		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	118	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ATCTGGCTTTCTTTAAGTCCA	0.348		NaN											0	0	0	1	0	4	24				
KCNIP2	30819	broad.mit.edu	37	10	103587157	103587157	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103587157C>A	uc001kub.2	-	10	1118	c.766G>T	c.(766-768)GAT>TAT	p.D256Y	KCNIP2_uc010qqg.1_Missense_Mutation_p.D200Y|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.D154Y|KCNIP2_uc001ktz.2_Missense_Mutation_p.D211Y|KCNIP2_uc009xwu.2_Missense_Mutation_p.D205Y|KCNIP2_uc009xwv.2_Missense_Mutation_p.D202Y|KCNIP2_uc001kuc.2_Missense_Mutation_p.D271Y|KCNIP2_uc001kue.2_Missense_Mutation_p.D238Y|KCNIP2_uc001kud.2_Missense_Mutation_p.D213Y|KCNIP2_uc001kuf.2_Missense_Mutation_p.D206Y|KCNIP2_uc001kua.2_Missense_Mutation_p.D187Y|KCNIP2_uc009xww.2_RNA	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	256	EF-hand 4.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGTTCTCATCCTGTGGCCAT	0.522		NaN											1	0	1.55469e-16	1	1.62693e-16	25	111				
KCNIP2	30819	broad.mit.edu	37	10	103587660	103587660	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103587660C>G	uc001kub.2	-	8	1040	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	KCNIP2_uc010qqg.1_Missense_Mutation_p.E174Q|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.E128Q|KCNIP2_uc001ktz.2_Missense_Mutation_p.E185Q|KCNIP2_uc009xwu.2_Missense_Mutation_p.E180Q|KCNIP2_uc009xwv.2_Missense_Mutation_p.E176Q|KCNIP2_uc001kuc.2_Missense_Mutation_p.E245Q|KCNIP2_uc001kue.2_Missense_Mutation_p.E212Q|KCNIP2_uc001kud.2_Missense_Mutation_p.E187Q|KCNIP2_uc001kuf.2_Missense_Mutation_p.E180Q|KCNIP2_uc001kua.2_Missense_Mutation_p.E161Q|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.E185Q|KCNIP2_uc010qqi.1_Missense_Mutation_p.E144Q	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	230	EF-hand 4.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		AAGAAGCTCTCCACGTGTTCC	0.557		NaN											0	0	0	1	0	15	58				
KCNIP2	30819	broad.mit.edu	37	10	103588900	103588900	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103588900C>G	uc001kub.2	-	4	632	c.280G>C	c.(280-282)GAG>CAG	p.E94Q	KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.W15C|KCNIP2_uc001ktz.2_Missense_Mutation_p.E49Q|KCNIP2_uc009xwu.2_Missense_Mutation_p.E44Q|KCNIP2_uc009xwv.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kuc.2_Missense_Mutation_p.E109Q|KCNIP2_uc001kue.2_Missense_Mutation_p.E76Q|KCNIP2_uc001kud.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kuf.2_Missense_Mutation_p.E44Q|KCNIP2_uc001kua.2_Missense_Mutation_p.W15C|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.E49Q|KCNIP2_uc010qqi.1_Missense_Mutation_p.E44Q	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2 isoform 2	94	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding				0		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TGCAGCTGCTCCAGACCCTCA	0.617		NaN											0	0	0	1	0	10	28				
PPRC1	23082	broad.mit.edu	37	10	103900787	103900787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:103900787C>T	uc001kum.2	+	5	2561	c.2522C>T	c.(2521-2523)TCA>TTA	p.S841L	PPRC1_uc001kun.2_Missense_Mutation_p.S721L|PPRC1_uc010qqj.1_Missense_Mutation_p.S841L|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	841	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCTGTGGCCTCATCTCCCACT	0.597		NaN											0	0	0	1	0	33	49				
SLK	9748	broad.mit.edu	37	10	105780291	105780291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:105780291C>T	uc001kxo.1	+	17	3401	c.3367C>T	c.(3367-3369)CAG>TAG	p.Q1123*	SLK_uc001kxp.1_Nonsense_Mutation_p.Q1092*	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1123	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAGAATGGCTCAGCATCAGAA	0.393		NaN											0	0	0	1	0	12	46				
SLK	9748	broad.mit.edu	37	10	105780327	105780327	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:105780327C>A	uc001kxo.1	+	17	3437	c.3403C>A	c.(3403-3405)CAG>AAG	p.Q1135K	SLK_uc001kxp.1_Missense_Mutation_p.Q1104K	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1135	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCGAGATCTTCAGTTGCAGTG	0.453		NaN											1	0	3.41278e-10	1	3.55698e-10	15	56				
GFRA1	2674	broad.mit.edu	37	10	117884737	117884737	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:117884737G>C	uc001lcj.2	-	6	1463	c.765C>G	c.(763-765)ATC>ATG	p.I255M	GFRA1_uc001lci.2_Missense_Mutation_p.I250M|GFRA1_uc009xyr.2_Missense_Mutation_p.I250M	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	255	3.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTTACCTGCAGATGTAATTCG	0.537		NaN											0	0	0	1	0	16	26				
PDZD8	118987	broad.mit.edu	37	10	119134253	119134253	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:119134253G>A	uc001lde.1	-	1	685	c.486C>T	c.(484-486)CTC>CTT	p.L162L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	162					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGGCCGCACGAGCCGGATGG	0.731		NaN											0	0	0	1	0	4	17				
BCCIP	56647	broad.mit.edu	37	10	127512238	127512238	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512238G>A	uc001ljb.3	+	1	135	c.112G>A	c.(112-114)GAC>AAC	p.D38N	BCCIP_uc001ljd.3_Missense_Mutation_p.D38N|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.D38N|BCCIP_uc001ljc.3_Missense_Mutation_p.D38N|BCCIP_uc010quj.1_Missense_Mutation_p.D38N	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	38					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				tgaggatgaagacgatgatga	0.343		NaN											0	0	0	1	0	5	59				
BCCIP	56647	broad.mit.edu	37	10	127512271	127512271	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512271G>A	uc001ljb.3	+	1	168	c.145G>A	c.(145-147)GAG>AAG	p.E49K	BCCIP_uc001ljd.3_Missense_Mutation_p.E49K|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.E49K|BCCIP_uc001ljc.3_Missense_Mutation_p.E49K|BCCIP_uc010quj.1_Missense_Mutation_p.E49K	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	49					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				aaaggatgaagaggacgaggT	0.308		NaN											0	0	0	1	0	10	53				
BCCIP	56647	broad.mit.edu	37	10	127512277	127512277	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr10:127512277G>A	uc001ljb.3	+	1	174	c.151G>A	c.(151-153)GAG>AAG	p.E51K	BCCIP_uc001ljd.3_Missense_Mutation_p.E51K|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.E51K|BCCIP_uc001ljc.3_Missense_Mutation_p.E51K|BCCIP_uc010quj.1_Missense_Mutation_p.E51K	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	51					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				tgaagaggacgaggTCATTGA	0.303		NaN											0	0	0	1	0	9	52				
DUSP8	1850	broad.mit.edu	37	11	1586886	1586886	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:1586886C>G	uc001lts.2	-	2	299	c.171G>C	c.(169-171)CGG>CGC	p.R57R		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	57	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCTGCAGCCGCCGCTTCACCA	0.647		NaN											0	0	0	1	0	18	42				
UBQLNL	143630	broad.mit.edu	37	11	5537271	5537271	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:5537271C>G	uc001maz.3	-	1	686	c.401G>C	c.(400-402)AGA>ACA	p.R134T	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	134										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGGTGCACTCTGCTGCTGTT	0.537		NaN											0	0	0	1	0	17	55				
OR52E4	390081	broad.mit.edu	37	11	5905783	5905783	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:5905783C>G	uc010qzs.1	+	1	261	c.261C>G	c.(259-261)TTC>TTG	p.F87L	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATCTTCTGGTTCAACC	0.458		NaN											0	0	0	1	0	40	106				
PIK3C2A	5286	broad.mit.edu	37	11	17112890	17112890	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:17112890G>A	uc001mmq.3	-	31	4935	c.4869C>T	c.(4867-4869)TTC>TTT	p.F1623F	PIK3C2A_uc009ygu.1_Silent_p.F226F|PIK3C2A_uc010rcw.1_Silent_p.F1243F|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1623	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	CCATTTCATTGAATGTCGGAT	0.249		NaN											0	0	0	1	0	18	57				
NELL1	4745	broad.mit.edu	37	11	21581919	21581919	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:21581919C>T	uc001mqe.2	+	17	2124	c.1971C>T	c.(1969-1971)TGC>TGT	p.C657C	NELL1_uc001mqf.2_Silent_p.C610C|NELL1_uc009yid.2_Silent_p.C685C|NELL1_uc010rdo.1_Silent_p.C600C|NELL1_uc010rdp.1_Silent_p.C370C|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	657	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTTCTGTCTGCTCCTGCAAGG	0.542		NaN											0	0	0	1	0	14	20				
KIF18A	81930	broad.mit.edu	37	11	28104452	28104452	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:28104452C>T	uc001msc.2	-	9	1395	c.1213G>A	c.(1213-1215)GAC>AAC	p.D405N		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	405	Potential.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TTTGCTTGGTCATTTTCATTA	0.264		NaN											0	0	0	1	0	4	34				
TTC17	55761	broad.mit.edu	37	11	43380573	43380573	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:43380573C>T	uc001mxi.2	+	1	83	c.69C>T	c.(67-69)CTC>CTT	p.L23L	TTC17_uc001mxh.2_Silent_p.L23L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	23							binding			ovary(5)	5						GCTGGCTCCTCAGCCTTTCCG	0.711		NaN											0	0	0	1	0	4	7				
OR4B1	119765	broad.mit.edu	37	11	48238743	48238743	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:48238743C>G	uc010rhs.1	+	1	382	c.382C>G	c.(382-384)CTT>GTT	p.L128V		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TTGCAAGCCTCTTCATTATAT	0.453		NaN											0	0	0	1	0	41	87				
OR4C6	219432	broad.mit.edu	37	11	55433227	55433227	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:55433227C>T	uc001nht.3	+	3	850	c.585C>T	c.(583-585)CTC>CTT	p.L195L	OR4C6_uc010rik.1_Silent_p.L195L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	195	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TCCTGGGCCTCTTAGTTACCC	0.443		NaN											0	0	0	1	0	35	78				
MS4A7	58475	broad.mit.edu	37	11	60154219	60154219	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:60154219C>T	uc001npe.2	+	4	457	c.312C>T	c.(310-312)ATC>ATT	p.I104I	MS4A7_uc001npf.2_Silent_p.I104I|MS4A7_uc001npg.2_Silent_p.I59I|MS4A7_uc001nph.2_Silent_p.I59I|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.I59I	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	104	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2						TCTCAATTATCTCTGGAAAAC	0.284		NaN											0	0	0	1	0	24	55				
EML3	256364	broad.mit.edu	37	11	62378910	62378910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:62378910G>A	uc001ntu.1	-	2	489	c.181C>T	c.(181-183)CCT>TCT	p.P61S	EML3_uc001ntr.1_Missense_Mutation_p.P32S|EML3_uc001nts.1_Missense_Mutation_p.P32S|EML3_uc001ntt.1_5'UTR|EML3_uc010rly.1_Missense_Mutation_p.P61S|EML3_uc009yny.1_5'Flank|ROM1_uc001ntv.2_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	61						cytoplasm|microtubule	protein binding			ovary(1)	1						TCCCCCGGAGGAGCTGGTGTG	0.602		NaN											0	0	0	1	0	8	30				
ATG2A	23130	broad.mit.edu	37	11	64670063	64670063	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:64670063G>C	uc001obx.2	-	27	3817	c.3702C>G	c.(3700-3702)CTC>CTG	p.L1234L	ATG2A_uc001obw.2_5'UTR	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1234							protein binding			ovary(1)|central_nervous_system(1)	2						TTACGTACTGGAGCAGGTTGA	0.652		NaN											0	0	0	1	0	4	10				
ADRBK1	156	broad.mit.edu	37	11	67052909	67052909	+	Silent	SNP	C	C	T	rs144172325		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:67052909C>T	uc009yrn.1	+	21	2324	c.2058C>T	c.(2056-2058)GCC>GCT	p.A686A	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	686					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGGCAGTGCCAACGGCCTCT	0.542		NaN											0	0	0	1	0	7	16				
C11orf24	53838	broad.mit.edu	37	11	68029775	68029775	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:68029775G>A	uc001onr.3	-	4	1130	c.688C>T	c.(688-690)CGT>TGT	p.R230C	C11orf24_uc001ons.2_Missense_Mutation_p.R230C	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	230	Extracellular (Potential).|Pro-rich.					integral to membrane					0						GGACTTGGACGAGTGCTCATG	0.587		NaN											0	0	0	1	0	20	60				
MRGPRF	116535	broad.mit.edu	37	11	68773667	68773667	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:68773667C>T	uc001ooo.3	-	3	478	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	MRGPRF_uc001oop.3_Silent_p.Q37Q	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	37	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCATCGCGATCTGCTCGATGG	0.642		NaN											0	0	0	1	0	11	31				
PRKRIR	5612	broad.mit.edu	37	11	76066699	76066699	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:76066699C>G	uc001oxh.1	-	4	319	c.319_splice	c.e4-1	p.S107_splice	PRKRIR_uc010rrz.1_5'UTR	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double						negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CATCTTCACTCTAAATGTCAA	0.323		NaN											0	0	0	1	0	3	8				
CAPN5	726	broad.mit.edu	37	11	76795973	76795973	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:76795973C>T	uc001oxx.2	+	2	226	c.41C>T	c.(40-42)TCA>TTA	p.S14L	CAPN5_uc009yup.2_Missense_Mutation_p.S14L|CAPN5_uc009yuq.2_Missense_Mutation_p.S50L|CAPN5_uc001oxy.2_Missense_Mutation_p.S54L	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	14					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CAGAACTACTCAGCCCTGAGG	0.637		NaN											0	0	0	1	0	11	31				
EED	8726	broad.mit.edu	37	11	85977176	85977176	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:85977176C>T	uc001pbp.2	+	8	1235	c.778C>T	c.(778-780)CTT>TTT	p.L260F	EED_uc010rtm.1_Missense_Mutation_p.L260F|EED_uc001pbq.2_Missense_Mutation_p.L260F|EED_uc001pbr.2_Missense_Mutation_p.L260F|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	260	Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCATTCTCTTAAACTTTG	0.289		NaN											0	0	0	1	0	53	101				
MAML2	84441	broad.mit.edu	37	11	96074933	96074933	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:96074933G>C	uc001pfw.1	-	1	1412	c.127C>G	c.(127-129)CGG>GGG	p.R43G		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	43					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ACAGCGATCCGAGCCCGGAGG	0.657		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	6	9				
MAML2	84441	broad.mit.edu	37	11	96074994	96074994	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:96074994G>C	uc001pfw.1	-	1	1351	c.66C>G	c.(64-66)CTC>CTG	p.L22L		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	22					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCCCTCCAAGGAGCCCCGCCC	0.682		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	3	3				
YAP1	10413	broad.mit.edu	37	11	102098267	102098267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:102098267C>T	uc001pgt.2	+	8	1601	c.1231C>T	c.(1231-1233)CGA>TGA	p.R411*	YAP1_uc001pgs.2_Nonsense_Mutation_p.R361*|YAP1_uc001pgu.2_Nonsense_Mutation_p.R395*|YAP1_uc001pgv.2_Nonsense_Mutation_p.R357*|YAP1_uc010ruo.1_Nonsense_Mutation_p.R233*|YAP1_uc001pgw.2_Nonsense_Mutation_p.R235*|YAP1_uc010rup.1_Nonsense_Mutation_p.R176*	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	411	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CAGTGTCCCTCGAACCCCAGA	0.433		NaN											0	0	0	1	0	8	17				
LAYN	143903	broad.mit.edu	37	11	111430885	111430885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:111430885G>A	uc001plr.1	+	8	1187	c.851G>A	c.(850-852)GGA>GAA	p.G284E	LAYN_uc001plp.1_Missense_Mutation_p.G276E|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Missense_Mutation_p.G131E|LAYN_uc010rwh.1_Missense_Mutation_p.G132E	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	284	Cytoplasmic (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCTCACCAGGGAAACAGCCCG	0.498		NaN											0	0	0	1	0	13	48				
OR10S1	219873	broad.mit.edu	37	11	123847570	123847570	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:123847570G>A	uc001pzm.1	-	1	829	c.829C>T	c.(829-831)CGC>TGC	p.R277C		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	277	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGGAGCGAGGCTGCAGG	0.592		NaN											0	0	0	1	0	30	72				
KIRREL3	84623	broad.mit.edu	37	11	126318913	126318913	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr11:126318913C>G	uc001qea.2	-	8	1349	c.988G>C	c.(988-990)GAC>CAC	p.D330H	KIRREL3_uc001qeb.2_Missense_Mutation_p.D330H|KIRREL3_uc001qec.1_Missense_Mutation_p.D330H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	330	Extracellular (Potential).|Ig-like C2-type 3.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGTAGACGTCAACCGTGCGG	0.577		NaN											0	0	0	1	0	12	30				
CD163L1	283316	broad.mit.edu	37	12	7526237	7526237	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:7526237C>T	uc001qsy.2	-	14	3436	c.3410_splice	c.e14-1	p.E1137_splice	CD163L1_uc010sge.1_Splice_Site_p.E1147_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1							extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GCTGTGAATTCTACAGAGAAA	0.438		NaN											0	0	0	1	0	7	118				
A2M	2	broad.mit.edu	37	12	9225252	9225252	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:9225252G>C	uc001qvk.1	-	30	4085	c.3972C>G	c.(3970-3972)CTC>CTG	p.L1324L	A2M_uc001qvj.1_Silent_p.L366L|A2M_uc009zgk.1_Silent_p.L1174L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1324					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GTCTCACCTGGAGGTAGACAC	0.507		NaN											0	0	0	1	0	50	47				
KLRC3	3823	broad.mit.edu	37	12	10587089	10587089	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:10587089C>T	uc001qyh.2	-	3	334	c.327G>A	c.(325-327)CAG>CAA	p.Q109Q	KLRC2_uc010she.1_Silent_p.Q109Q|KLRC2_uc001qyk.2_Silent_p.Q109Q	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	109	Extracellular (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						ATGTACCTTTCTGCGTTCTTG	0.279		NaN											0	0	0	1	0	13	100				
CDKN1B	1027	broad.mit.edu	37	12	12871794	12871794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:12871794G>T	uc001rat.2	+	2	983	c.511G>T	c.(511-513)GAA>TAA	p.E171*		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	171					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAACAGAACAGAAGAAAATGT	0.443		NaN							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				1	0	8.28887e-21	1	8.74467e-21	54	47				
SLC11A2	4891	broad.mit.edu	37	12	51389481	51389481	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:51389481G>C	uc001rxe.3	-	10	1018	c.921C>G	c.(919-921)TCC>TCG	p.S307S	SLC11A2_uc001rxd.3_Silent_p.S156S|SLC11A2_uc001rxc.3_Silent_p.S307S|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Silent_p.S303S|SLC11A2_uc001rxh.1_Silent_p.S307S|SLC11A2_uc001rxj.1_Silent_p.S307S|SLC11A2_uc001rxi.2_Silent_p.S307S|SLC11A2_uc001rxk.1_Silent_p.S336S|SLC11A2_uc010smy.1_Silent_p.S270S	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	307	Helical; (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						TGATGATGAAGGAAACAAAGA	0.413		NaN											0	0	0	1	0	22	29				
KRT8	3856	broad.mit.edu	37	12	53292539	53292539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:53292539C>A	uc001sbd.2	-	6	1229	c.1126G>T	c.(1126-1128)GAG>TAG	p.E376*	KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Nonsense_Mutation_p.E404*|KRT8_uc009zml.1_Nonsense_Mutation_p.E376*|KRT8_uc009zmm.1_Nonsense_Mutation_p.E376*	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	376	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCATCAGCTCCTGGTACTCA	0.642		NaN											1	0	7.63091e-17	1	8.00164e-17	40	51				
ESPL1	9700	broad.mit.edu	37	12	53677939	53677939	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:53677939G>C	uc001sck.2	+	17	3266	c.3175G>C	c.(3175-3177)GAG>CAG	p.E1059Q	ESPL1_uc001scj.2_Missense_Mutation_p.E734Q|ESPL1_uc010soe.1_Missense_Mutation_p.E270Q	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1059					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GTTCTTGCTTGAGTCTTGCAC	0.527		NaN											0	0	0	1	0	32	52				
OR6C65	403282	broad.mit.edu	37	12	55794872	55794872	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:55794872G>C	uc010spl.1	+	1	560	c.560G>C	c.(559-561)TGC>TCC	p.C187S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTGATTGCTTGCACAGACACA	0.448		NaN											0	0	0	1	0	74	105				
ANKRD52	283373	broad.mit.edu	37	12	56645860	56645860	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:56645860A>G	uc001skm.3	-	15	1621	c.1531T>C	c.(1531-1533)TCC>CCC	p.S511P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	511	ANK 15.						protein binding			ovary(2)	2						TCATGGCTGGAAGGTGTATGG	0.592		NaN											0	0	0	1	0	5	35				
LEMD3	23592	broad.mit.edu	37	12	65563434	65563434	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:65563434C>G	uc001ssl.1	+	1	64	c.58C>G	c.(58-60)CAG>GAG	p.Q20E	LEMD3_uc009zqo.1_Missense_Mutation_p.Q20E	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	20	LEM.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GCTTTTCTCTCAGCTCCGCCG	0.602		NaN											0	0	0	1	0	2	4				
C12orf74	338809	broad.mit.edu	37	12	93100662	93100662	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:93100662G>A	uc001tch.1	+	2	485	c.255G>A	c.(253-255)TCG>TCA	p.S85S	C12orf74_uc001tci.2_Silent_p.S85S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	85											0						GTTACCTTTCGAAGAGCCTGC	0.567		NaN											0	0	0	1	0	14	41				
ANKRD13A	88455	broad.mit.edu	37	12	110468561	110468561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:110468561C>T	uc001tpx.2	+	12	1605	c.1346C>T	c.(1345-1347)TCA>TTA	p.S449L	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc010sxw.1_Missense_Mutation_p.S448L|ANKRD13A_uc001tpy.2_Intron|ANKRD13A_uc001tpz.2_Missense_Mutation_p.S87L|ANKRD13A_uc001tqa.2_Missense_Mutation_p.S87L	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	449											0						CAGGCTGATTCAGGtaaaaaa	0.219		NaN											0	0	0	1	0	7	8				
CCDC63	160762	broad.mit.edu	37	12	111296402	111296402	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:111296402G>C	uc001trv.1	+	4	387	c.192G>C	c.(190-192)AAG>AAC	p.K64N	CCDC63_uc009zvt.1_5'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.K24N|CCDC63_uc001trw.1_5'UTR	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	64	Potential.									skin(6)|ovary(1)|pancreas(1)	8						AGGAGATCAAGACCCTGAAGA	0.502		NaN											0	0	0	1	0	7	19				
SBNO1	55206	broad.mit.edu	37	12	123789171	123789171	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:123789171G>C	uc010tap.1	-	28	3726	c.3726C>G	c.(3724-3726)CTC>CTG	p.L1242L	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.L1241L|SBNO1_uc010taq.1_Silent_p.L193L|SBNO1_uc001ues.1_Silent_p.L193L	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1242							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTCTAATTTGAGCTGCTTCC	0.259		NaN											0	0	0	1	0	7	20				
GPR133	283383	broad.mit.edu	37	12	131471828	131471828	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:131471828G>A	uc001uit.3	+	6	1238	c.679G>A	c.(679-681)GAG>AAG	p.E227K	GPR133_uc010tbm.1_Missense_Mutation_p.E259K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	227	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCTTTCGATGAGTTCATCAT	0.542		NaN											0	0	0	1	0	14	44				
GOLGA3	2802	broad.mit.edu	37	12	133353621	133353621	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr12:133353621C>T	uc001ukz.1	-	20	4337	c.3778G>A	c.(3778-3780)GAG>AAG	p.E1260K	GOLGA3_uc001ula.1_Missense_Mutation_p.E1260K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1260	Potential.|Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCGGGCCTCGGCCAGCTCT	0.587		NaN											0	0	0	1	0	9	15				
IFT88	8100	broad.mit.edu	37	13	21217598	21217598	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:21217598G>A	uc001unh.2	+	21	2110	c.1714G>A	c.(1714-1716)GAA>AAA	p.E572K	IFT88_uc001uni.2_Missense_Mutation_p.E563K|IFT88_uc001unj.2_Missense_Mutation_p.E562K|IFT88_uc010tcq.1_Missense_Mutation_p.E543K	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	572	TPR 9.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CATAAGATATGAATTAATGGA	0.318		NaN											0	0	0	1	0	11	42				
PARP4	143	broad.mit.edu	37	13	25016097	25016097	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:25016097C>G	uc001upl.2	-	30	3659	c.3553G>C	c.(3553-3555)GAG>CAG	p.E1185Q		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1185					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAAGGCGACTCATTCTCATCC	0.403		NaN											0	0	0	1	0	11	42				
NUPL1	9818	broad.mit.edu	37	13	25876015	25876015	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:25876015C>T	uc001uqi.2	+	1	350	c.104C>T	c.(103-105)TCT>TTT	p.S35F	NUPL1_uc001uqg.1_Missense_Mutation_p.S35F|NUPL1_uc001uqj.2_Missense_Mutation_p.S35F	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	35	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACGGGAGCGTCTAGGTAACCG	0.662		NaN											0	0	0	1	0	5	9				
LNX2	222484	broad.mit.edu	37	13	28127506	28127506	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:28127506C>T	uc001url.3	-	8	1926	c.1617G>A	c.(1615-1617)CTG>CTA	p.L539L	LNX2_uc001urm.1_Silent_p.L539L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	539	PDZ 3.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CACTGGCTTTCAGCATTGCAA	0.478		NaN											0	0	0	1	0	15	52				
KATNAL1	84056	broad.mit.edu	37	13	30782761	30782761	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:30782761C>T	uc001uss.2	-	11	1490	c.1389G>A	c.(1387-1389)TTG>TTA	p.L463L	KATNAL1_uc001ust.2_Silent_p.L463L	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	463						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCTTTAGGGCCAATTCAAAGT	0.418		NaN											0	0	0	1	0	24	55				
ZC3H13	23091	broad.mit.edu	37	13	46594682	46594682	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:46594682G>C	uc010tfw.1	-	4	356	c.350C>G	c.(349-351)TCA>TGA	p.S117*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.S117*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.S117*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	117							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCCCTCTTGAAGATTCTTT	0.284		NaN											0	0	0	1	0	11	33				
RB1	5925	broad.mit.edu	37	13	48936983	48936983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:48936983C>T	uc001vcb.2	+	8	917	c.751C>T	c.(751-753)CGA>TGA	p.R251*	RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	251					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.R251*(3)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTTCACCTCGAACACCCAG	0.343		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	1	0	17	46		Valid		
SLITRK1	114798	broad.mit.edu	37	13	84454070	84454070	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:84454070C>G	uc001vlk.2	-	1	2459	c.1573G>C	c.(1573-1575)GAC>CAC	p.D525H		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	525	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCGTGGAGGTCTATCTGGATG	0.557		NaN											0	0	0	1	0	16	46				
GPC5	2262	broad.mit.edu	37	13	92345940	92345940	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:92345940C>G	uc010tif.1	+	3	1191	c.825C>G	c.(823-825)CTC>CTG	p.L275L		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	275						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATACTGCCTCAATGTCATGC	0.547		NaN											0	0	0	1	0	5	73				
STK24	8428	broad.mit.edu	37	13	99114081	99114081	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:99114081G>A	uc001vnm.1	-	8	1271	c.1036C>T	c.(1036-1038)CCC>TCC	p.P346S	STK24_uc001vnn.1_Missense_Mutation_p.P334S|STK24_uc010tim.1_Missense_Mutation_p.P315S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	346					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGATTCTTGGGATCTTTTTCT	0.507		NaN											0	0	0	1	0	33	74				
FAM155A	728215	broad.mit.edu	37	13	108518877	108518877	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108518877C>T	uc001vql.2	-	1	584	c.68G>A	c.(67-69)CGA>CAA	p.R23Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	23						integral to membrane	binding			skin(1)	1						CTCGTTCTCTCGGGGTGCTGC	0.532		NaN											0	0	0	1	0	55	133				
LIG4	3981	broad.mit.edu	37	13	108861843	108861843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108861843C>T	uc001vqn.2	-	2	2047	c.1774G>A	c.(1774-1776)GAG>AAG	p.E592K	LIG4_uc001vqo.2_Missense_Mutation_p.E592K|LIG4_uc010agg.1_Missense_Mutation_p.E525K|LIG4_uc010agf.2_Missense_Mutation_p.E592K|LIG4_uc001vqp.2_Missense_Mutation_p.E592K	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	592					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTCATGCACTCATGCCACTCC	0.448		NaN						NHEJ					0	0	0	1	0	21	49				
TNFSF13B	10673	broad.mit.edu	37	13	108959240	108959240	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr13:108959240C>T	uc001vqr.2	+	6	1079	c.812C>T	c.(811-813)TCA>TTA	p.S271L	TNFSF13B_uc010agj.2_Missense_Mutation_p.S252L	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	271	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GCACAAATATCACTGGATGGA	0.393		NaN											0	0	0	1	0	15	38				
NID2	22795	broad.mit.edu	37	14	52485839	52485839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:52485839C>T	uc001wzo.2	-	14	3202	c.2968G>A	c.(2968-2970)GAA>AAA	p.E990K	NID2_uc010tqs.1_Missense_Mutation_p.E942K|NID2_uc010tqt.1_Missense_Mutation_p.E990K|NID2_uc001wzp.2_Missense_Mutation_p.E990K	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	990	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CCAGGAACTTCATGACCATCA	0.602		NaN											0	0	0	1	0	8	22				
FUT8	2530	broad.mit.edu	37	14	66209049	66209049	+	Missense_Mutation	SNP	C	C	T	rs149328619	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:66209049C>T	uc001xin.2	+	11	2846	c.1649C>T	c.(1648-1650)ACG>ATG	p.T550M	FUT8_uc001xio.2_Missense_Mutation_p.T550M|FUT8_uc010tsp.1_Missense_Mutation_p.T387M|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T550M|FUT8_uc001xiq.2_Missense_Mutation_p.T421M|FUT8_uc001xis.2_Missense_Mutation_p.T144M	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	550	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGAAGGACGGGCCTATAT	0.443		NaN											0	0	0	1	0	15	79				
KIAA0317	9870	broad.mit.edu	37	14	75143291	75143291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:75143291G>A	uc001xqb.2	-	6	1151	c.646C>T	c.(646-648)CAT>TAT	p.H216Y	KIAA0317_uc010tut.1_Missense_Mutation_p.H55Y|KIAA0317_uc001xqc.2_Missense_Mutation_p.H216Y	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	216					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CTTACCTCATGAATGGACAAG	0.453		NaN											0	0	0	1	0	23	113				
CCDC88C	440193	broad.mit.edu	37	14	91805717	91805717	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:91805717G>A	uc010aty.2	-	8	813	c.714C>T	c.(712-714)CCC>CCT	p.P238P	CCDC88C_uc010twk.1_Silent_p.P202P	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	238					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TGGTGGGGCTGGGAGTGGAGT	0.662		NaN											0	0	0	1	0	4	18				
TDRD9	122402	broad.mit.edu	37	14	104488586	104488586	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr14:104488586C>T	uc001yom.3	+	24	2555	c.2525C>T	c.(2524-2526)TCA>TTA	p.S842L	TDRD9_uc001yon.3_Missense_Mutation_p.S580L	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	842					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAAAAGTTTCACTTGAACTC	0.428		NaN											0	0	0	1	0	6	16				
NIPA1	123606	broad.mit.edu	37	15	23049167	23049167	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:23049167G>A	uc001yvc.2	-	5	677	c.652C>T	c.(652-654)CAT>TAT	p.H218Y	NIPA1_uc001yvd.2_Missense_Mutation_p.H48Y|NIPA1_uc001yve.2_Missense_Mutation_p.H143Y	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	218	Extracellular (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGTTGTTATGCAAGATGTCT	0.587		NaN											0	0	0	1	0	18	43				
UBE3A	7337	broad.mit.edu	37	15	25616710	25616710	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:25616710G>C	uc001zaq.2	-	4	620	c.620C>G	c.(619-621)TCA>TGA	p.S207*	uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.S184*|UBE3A_uc001zas.2_Nonsense_Mutation_p.S204*|UBE3A_uc001zat.2_Nonsense_Mutation_p.S184*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	207					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATGCTTCTGAGTCTTCTTC	0.408		NaN											0	0	0	1	0	45	141				
TJP1	7082	broad.mit.edu	37	15	30064302	30064302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:30064302G>A	uc001zcr.2	-	4	752	c.277C>T	c.(277-279)CAG>TAG	p.Q93*	TJP1_uc010azl.2_Nonsense_Mutation_p.Q81*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q97*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q93*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	93	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTAGTTGCTGAACAGCAAAA	0.348		NaN											0	0	0	1	0	12	29				
RYR3	6263	broad.mit.edu	37	15	34064217	34064217	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:34064217G>A	uc001zhi.2	+	63	8983	c.8913G>A	c.(8911-8913)CTG>CTA	p.L2971L	RYR3_uc010bar.2_Silent_p.L2971L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2971	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGAAAACCTGAAACTTGGGA	0.473		NaN											0	0	0	1	0	5	16				
CAPN3	825	broad.mit.edu	37	15	42703108	42703108	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:42703108G>C	uc001zpn.1	+	22	2596	c.2290G>C	c.(2290-2292)GAC>CAC	p.D764H	CAPN3_uc001zpk.1_Missense_Mutation_p.D531H|CAPN3_uc001zpl.1_Missense_Mutation_p.D671H|CAPN3_uc010udf.1_Missense_Mutation_p.D677H|CAPN3_uc010udg.1_Missense_Mutation_p.D629H|CAPN3_uc001zpo.1_Missense_Mutation_p.D758H|CAPN3_uc001zpp.1_Missense_Mutation_p.D672H|CAPN3_uc001zpq.1_Missense_Mutation_p.D252H|CAPN3_uc010bcv.1_Missense_Mutation_p.D99H|CAPN3_uc001zpr.1_Missense_Mutation_p.D99H|CAPN3_uc001zps.1_Missense_Mutation_p.D99H|CAPN3_uc001zpt.1_Missense_Mutation_p.D99H	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	764	Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCTCTATGACATCATTAC	0.517		NaN											0	0	0	1	0	20	49				
UBR1	197131	broad.mit.edu	37	15	43294862	43294862	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:43294862G>A	uc001zqq.2	-	32	3616	c.3550C>T	c.(3550-3552)CAT>TAT	p.H1184Y		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1184	RING-type; atypical.				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGTCAACATGAATGCGCTGC	0.413		NaN											0	0	0	1	0	13	44				
PLDN	26258	broad.mit.edu	37	15	45884353	45884353	+	Missense_Mutation	SNP	G	G	A	rs149605903		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:45884353G>A	uc001zvq.2	+	2	328	c.103G>A	c.(103-105)GAT>AAT	p.D35N	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	35					post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		CACTTCTCCAGATGAAGGGTT	0.313		NaN											0	0	0	1	0	15	38				
CEP152	22995	broad.mit.edu	37	15	49048212	49048212	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:49048212G>A	uc001zwy.2	-	20	3267	c.3233C>T	c.(3232-3234)TCT>TTT	p.S1078F	CEP152_uc001zwz.2_Missense_Mutation_p.S1078F|CEP152_uc001zxa.1_Missense_Mutation_p.S985F	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1078					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCATTTTGAAGAACAAGTCGA	0.408		NaN											0	0	0	1	0	41	99				
TLN2	83660	broad.mit.edu	37	15	63029226	63029226	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:63029226G>C	uc002alb.3	+	26	3508	c.3508G>C	c.(3508-3510)GAG>CAG	p.E1170Q		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1170	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCTCATTCAAGAGGCCAAGCA	0.577		NaN											0	0	0	1	0	14	41				
DENND4A	10260	broad.mit.edu	37	15	65983618	65983618	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:65983618C>T	uc002aph.2	-	22	3560	c.3182G>A	c.(3181-3183)GGA>GAA	p.G1061E	DENND4A_uc002api.2_Missense_Mutation_p.G1104E|DENND4A_uc002apj.3_Missense_Mutation_p.G1061E	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1061					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGCATCAGCTCCCAATTTTTC	0.378		NaN											0	0	0	1	0	5	31				
KIF23	9493	broad.mit.edu	37	15	69721528	69721528	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:69721528G>A	uc002asb.2	+	10	1165	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	KIF23_uc002asc.2_Missense_Mutation_p.E350K|KIF23_uc010bii.2_Missense_Mutation_p.E240K|KIF23_uc010ukc.1_Missense_Mutation_p.E167K|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	350	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						GACCAGAGCAGAAGGGAACAG	0.368		NaN											0	0	0	1	0	13	16				
KIF23	9493	broad.mit.edu	37	15	69737198	69737198	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:69737198G>A	uc002asb.2	+	19	2566	c.2449G>A	c.(2449-2451)GAC>AAC	p.D817N	KIF23_uc002asc.2_Missense_Mutation_p.D713N|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.D530N	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	817					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CTCTGCAGGAGACAGATGGGT	0.453		NaN											0	0	0	1	0	10	65				
BBS4	585	broad.mit.edu	37	15	73004593	73004593	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:73004593C>G	uc002avb.2	+	4	208	c.165C>G	c.(163-165)ATC>ATG	p.I55M	BBS4_uc010ukv.1_Missense_Mutation_p.I43M|BBS4_uc002avc.2_Translation_Start_Site|BBS4_uc002avd.2_Missense_Mutation_p.I63M	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	55	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						AGGCTGTTATCAAAGAACAGC	0.358		NaN							Bardet-Biedl_syndrome				0	0	0	1	0	6	25				
C15orf42	90381	broad.mit.edu	37	15	90119340	90119340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr15:90119340G>A	uc002boe.2	+	1	523	c.523G>A	c.(523-525)GAG>AAG	p.E175K		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	175					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTGGGTGCGAGGCCCAGGC	0.662		NaN											0	0	0	1	0	6	19				
FLYWCH1	84256	broad.mit.edu	37	16	2983500	2983500	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:2983500G>A	uc002csd.2	+	5	1529	c.1166G>A	c.(1165-1167)AGA>AAA	p.R389K	FLYWCH1_uc002csb.2_Missense_Mutation_p.R388K|FLYWCH1_uc002csc.2_Missense_Mutation_p.R388K|FLYWCH1_uc010bsv.2_Missense_Mutation_p.R64K	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	389						nucleus	DNA binding|metal ion binding				0						CCTCGGCCCAGAAAGCGAGCA	0.657		NaN											0	0	0	1	0	5	8				
POLR3E	55718	broad.mit.edu	37	16	22319516	22319516	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:22319516C>G	uc002dkk.2	+	4	291	c.135C>G	c.(133-135)CTC>CTG	p.L45L	POLR3E_uc002dkj.1_Silent_p.L45L|POLR3E_uc002dkm.2_Silent_p.L9L|POLR3E_uc010vbr.1_Silent_p.L45L|POLR3E_uc002dkl.2_Silent_p.L45L|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_Missense_Mutation_p.S6C	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	45					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		TTCCGCACCTCTCAGCCAAGA	0.627		NaN											0	0	0	1	0	10	43				
ERN2	10595	broad.mit.edu	37	16	23713758	23713758	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:23713758C>G	uc002dma.3	-	10	1347	c.1178G>C	c.(1177-1179)AGA>ACA	p.R393T	ERN2_uc010bxp.2_Missense_Mutation_p.R393T|ERN2_uc010bxq.1_Missense_Mutation_p.R201T	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	345	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGGGTATCTAACAGCAGT	0.582		NaN											0	0	0	1	0	52	124				
ITGAL	3683	broad.mit.edu	37	16	30506048	30506048	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:30506048C>T	uc002dyi.3	+	13	1556	c.1380C>T	c.(1378-1380)TTC>TTT	p.F460F	ITGAL_uc002dyj.3_Silent_p.F377F|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	460	FG-GAP 5.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTCTTATTTCGGTGGGGAGC	0.423		NaN											0	0	0	1	0	12	27				
PHKG2	5261	broad.mit.edu	37	16	30767535	30767535	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:30767535G>C	uc002dzk.1	+	7	682	c.589G>C	c.(589-591)GAG>CAG	p.E197Q	PHKG2_uc002dzi.1_Missense_Mutation_p.E197Q|PHKG2_uc002dzj.1_Missense_Mutation_p.E95Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	197	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			TCTAGCGCCAGAGATCCTTAA	0.587		NaN											0	0	0	1	0	36	115				
CHST6	4166	broad.mit.edu	37	16	75513367	75513367	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:75513367G>C	uc002fef.2	-	3	540	c.360C>G	c.(358-360)CTC>CTG	p.L120L	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L120L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	120	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCCACTGGAAGAGGTCGGACA	0.662		NaN											0	0	0	1	0	23	31				
ADAMTS18	170692	broad.mit.edu	37	16	77375607	77375607	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr16:77375607C>G	uc002ffc.3	-	11	2123	c.1704G>C	c.(1702-1704)TTG>TTC	p.L568F	ADAMTS18_uc010chc.1_Missense_Mutation_p.L156F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.L264F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	568	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTACCATACTCAAGCCACAAA	0.418		NaN											0	0	0	1	0	6	17				
RPA1	6117	broad.mit.edu	37	17	1747276	1747276	+	Silent	SNP	A	A	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:1747276A>T	uc002fto.2	+	3	262	c.147A>T	c.(145-147)GGA>GGT	p.G49G		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	49					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						TGAGTGATGGATTGAACACTC	0.443		NaN						NER					0	0	0	1	0	10	43				
RPA1	6117	broad.mit.edu	37	17	1780584	1780584	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:1780584C>T	uc002fto.2	+	8	781	c.666C>T	c.(664-666)TTC>TTT	p.F222F		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	222					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						GGAAGCTTTTCTCCCTAGAAC	0.532		NaN						NER					0	0	0	1	0	7	22				
RAP1GAP2	23108	broad.mit.edu	37	17	2861064	2861064	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:2861064C>G	uc010ckd.2	+	4	267	c.177C>G	c.(175-177)TTC>TTG	p.F59L	RAP1GAP2_uc010cke.2_Missense_Mutation_p.F59L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	59					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						CGTCGGAGTTCTTTGAGATGC	0.567		NaN											0	0	0	1	0	26	57				
XAF1	54739	broad.mit.edu	37	17	6663026	6663026	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:6663026G>C	uc002gdn.2	+	3	456	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	XAF1_uc010clr.1_Missense_Mutation_p.E72Q|XAF1_uc002gdm.1_Missense_Mutation_p.E12Q|XAF1_uc002gdo.2_Intron|XAF1_uc002gdp.2_Missense_Mutation_p.W49C|XAF1_uc002gdq.2_Intron|XAF1_uc002gdr.2_Intron	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	72	TRAF-type.				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						GTCCTCGCTGGAGTTTCATAA	0.438		NaN											0	0	0	1	0	12	48				
ZBTB4	57659	broad.mit.edu	37	17	7369149	7369149	+	Silent	SNP	C	C	G	rs143028324		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7369149C>G	uc002ghc.3	-	3	1222	c.972G>C	c.(970-972)CTG>CTC	p.L324L	ZBTB4_uc002ghd.3_Silent_p.L324L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	324	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGTGTCTCTTCAGACTGGACA	0.607		NaN											0	0	0	1	0	18	33				
TP53	7157	broad.mit.edu	37	17	7577511	7577511	+	Missense_Mutation	SNP	A	A	T	rs28934577		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7577511A>T	uc002gim.2	-	7	964	c.770T>A	c.(769-771)CTG>CAG	p.L257Q	TP53_uc002gig.1_Missense_Mutation_p.L257Q|TP53_uc002gih.2_Missense_Mutation_p.L257Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L125Q|TP53_uc010cng.1_Missense_Mutation_p.L125Q|TP53_uc002gii.1_Missense_Mutation_p.L125Q|TP53_uc010cnh.1_Missense_Mutation_p.L257Q|TP53_uc010cni.1_Missense_Mutation_p.L257Q|TP53_uc002gij.2_Missense_Mutation_p.L257Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L164Q|TP53_uc002gio.2_Missense_Mutation_p.L125Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	257	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L257P(8)|p.0?(7)|p.L257Q(7)|p.L257V(4)|p.L257L(2)|p.L257fs*6(2)|p.L257fs*88(1)|p.?(1)|p.L257fs*7(1)|p.T256fs*87(1)|p.L257R(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAGTCTTCCAGTGTGATGAT	0.582		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	1	0	7	26		Valid		
TP53	7157	broad.mit.edu	37	17	7579529	7579529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:7579529C>T	uc002gim.2	-	4	352	c.158G>A	c.(157-159)TGG>TAG	p.W53*	TP53_uc002gig.1_Nonsense_Mutation_p.W53*|TP53_uc002gih.2_Nonsense_Mutation_p.W53*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W53*|TP53_uc010cni.1_Nonsense_Mutation_p.W53*|TP53_uc002gij.2_Nonsense_Mutation_p.W53*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W14*|TP53_uc010cnk.1_Nonsense_Mutation_p.W68*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	53	TADII.|Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W53*(10)|p.0?(7)|p.W53C(2)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.W53fs*1(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGTGAACCATTGTTCAAT	0.592		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	1	0	49	128		Valid		
MYH1	4619	broad.mit.edu	37	17	10419630	10419630	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:10419630G>A	uc002gmo.2	-	4	328	c.234C>T	c.(232-234)TTC>TTT	p.F78F	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	78	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGTTCATGGGGAAGACTTGGT	0.468		NaN											0	0	0	1	0	16	129				
SLC46A1	113235	broad.mit.edu	37	17	26731743	26731743	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:26731743G>C	uc002hbf.1	-	2	1068	c.972C>G	c.(970-972)CTC>CTG	p.L324L	SLC46A1_uc002hbg.1_Silent_p.L324L|SLC46A1_uc010wak.1_Silent_p.L324L	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	324	Helical; (Potential).				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	AGTACTGCAGGAGCTTCAGGG	0.577		NaN											0	0	0	1	0	13	31				
SLC46A1	113235	broad.mit.edu	37	17	26732064	26732064	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:26732064G>A	uc002hbf.1	-	2	747	c.651C>T	c.(649-651)GCC>GCT	p.A217A	SLC46A1_uc002hbg.1_Silent_p.A217A|SLC46A1_uc010wak.1_Silent_p.A217A	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	217	Helical; (Potential).				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	CTATCAGCAAGGCCAAGGCCA	0.607		NaN											0	0	0	1	0	16	62				
C17orf42	79736	broad.mit.edu	37	17	29226414	29226414	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:29226414C>T	uc002hfu.2	-	4	926	c.856G>A	c.(856-858)GAA>AAA	p.E286K	C17orf42_uc002hfv.2_RNA	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	286					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATCATCAGTTCAAAATGCTTC	0.468		NaN											0	0	0	1	0	34	69				
TMEM132E	124842	broad.mit.edu	37	17	32959762	32959762	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:32959762G>C	uc002hif.2	+	7	1580	c.1252G>C	c.(1252-1254)GAG>CAG	p.E418Q		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	418	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGTGGAAAAGAGTCTCGAGG	0.567		NaN											0	0	0	1	0	18	53				
NLE1	54475	broad.mit.edu	37	17	33463472	33463472	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:33463472G>A	uc002hiy.1	-	8	901	c.873C>T	c.(871-873)AAC>AAT	p.N291N	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	291						nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				GGGCCATGGTGTTCACCCAGT	0.607		NaN											0	0	0	1	0	30	119				
KRT15	3866	broad.mit.edu	37	17	39671846	39671846	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:39671846C>T	uc002hwy.2	-	6	1316	c.1125G>A	c.(1123-1125)CTG>CTA	p.L375L	KRT15_uc002hwz.2_Silent_p.L277L|KRT15_uc002hxa.2_Silent_p.L210L|KRT15_uc002hxb.1_Silent_p.L210L	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	375	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				GGAGCTCACTCAGCTGGGCCT	0.592		NaN											0	0	0	1	0	29	56				
KRT15	3866	broad.mit.edu	37	17	39673157	39673157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:39673157C>T	uc002hwy.2	-	3	832	c.641G>A	c.(640-642)CGA>CAA	p.R214Q	KRT15_uc002hwz.2_Missense_Mutation_p.R116Q|KRT15_uc002hxa.2_Missense_Mutation_p.R49Q|KRT15_uc002hxb.1_Missense_Mutation_p.R49Q	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	214	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				ATCCAGGACTCGGCGCAAGCC	0.592		NaN											0	0	0	1	0	31	60				
MLX	6945	broad.mit.edu	37	17	40723603	40723603	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:40723603G>A	uc002iag.2	+	8	944	c.879G>A	c.(877-879)TTG>TTA	p.L293L	MLX_uc002iaf.2_Silent_p.L239L|MLX_uc002iah.2_Silent_p.L209L	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	293					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGCACCAATTGAAAAACCAGC	0.537		NaN											0	0	0	1	0	52	122				
WNK4	65266	broad.mit.edu	37	17	40933043	40933043	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:40933043G>A	uc002ibj.2	+	1	348	c.327G>A	c.(325-327)ACG>ACA	p.T109T	WNK4_uc010wgx.1_Translation_Start_Site|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	109					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCGAGGGCACGTGGACCGAGG	0.731		NaN											0	0	0	1	0	5	17				
CACNA1G	8913	broad.mit.edu	37	17	48696036	48696036	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:48696036C>T	uc002irk.1	+	33	5820	c.5448C>T	c.(5446-5448)GAC>GAT	p.D1816D	CACNA1G_uc002irj.1_Silent_p.D1782D|CACNA1G_uc002irl.1_Silent_p.D1793D|CACNA1G_uc002irm.1_Silent_p.D1782D|CACNA1G_uc002irn.1_Silent_p.D1775D|CACNA1G_uc002iro.1_Silent_p.D1782D|CACNA1G_uc002irp.1_Silent_p.D1816D|CACNA1G_uc002irq.1_Silent_p.D1793D|CACNA1G_uc002irr.1_Silent_p.D1816D|CACNA1G_uc002irs.1_Silent_p.D1805D|CACNA1G_uc002irt.1_Silent_p.D1798D|CACNA1G_uc002irv.1_Silent_p.D1805D|CACNA1G_uc002irw.1_Silent_p.D1793D|CACNA1G_uc002iru.1_Silent_p.D1782D|CACNA1G_uc002irx.1_Silent_p.D1729D|CACNA1G_uc002iry.1_Silent_p.D1718D|CACNA1G_uc002irz.1_Silent_p.D1722D|CACNA1G_uc002isa.1_Silent_p.D1695D|CACNA1G_uc002isb.1_Silent_p.D1736D|CACNA1G_uc002isc.1_Silent_p.D1718D|CACNA1G_uc002isd.1_Silent_p.D1704D|CACNA1G_uc002ise.1_Silent_p.D1684D|CACNA1G_uc002isf.1_Silent_p.D1711D|CACNA1G_uc002isg.1_Silent_p.D1677D|CACNA1G_uc002ish.1_Silent_p.D1684D|CACNA1G_uc002isi.1_Silent_p.D1672D	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1816	IV.|Extracellular (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGACTGTGACCAGGAGTCCA	0.577		NaN											0	0	0	1	0	4	27				
OR4D1	26689	broad.mit.edu	37	17	56233150	56233150	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:56233150C>T	uc010wno.1	+	1	636	c.636C>T	c.(634-636)CTC>CTT	p.L212L	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTGGTTCCTCCTCCTTCTGA	0.532		NaN											0	0	0	1	0	24	53				
CYB561	1534	broad.mit.edu	37	17	61514723	61514723	+	Silent	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:61514723G>T	uc002jap.2	-	1	588	c.186C>A	c.(184-186)ATC>ATA	p.I62I	CYB561_uc002jaq.2_Silent_p.I108I|CYB561_uc002jar.2_Silent_p.I62I|CYB561_uc002jas.2_Silent_p.I62I|CYB561_uc010ddt.2_Silent_p.I62I|CYB561_uc002jat.2_Silent_p.I62I|CYB561_uc010wpf.1_Silent_p.I62I|CYB561_uc010wpg.1_Silent_p.I33I	NM_001915	NP_001906	P49447	CY561_HUMAN	cytochrome b-561	62	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(1115;0.0689)		CCTGCAGGAAGATCAGGCCTA	0.647		NaN											1	0	6.31663e-08	1	6.54403e-08	16	47				
LRRC37A3	374819	broad.mit.edu	37	17	62864606	62864606	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:62864606G>A	uc002jey.2	-	9	3558	c.3027C>T	c.(3025-3027)CTC>CTT	p.L1009L	LRRC37A3_uc010wqg.1_Silent_p.L127L|LRRC37A3_uc010wqf.1_Silent_p.L47L|LRRC37A3_uc010dek.1_Silent_p.L15L	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1009	Extracellular (Potential).|LRR 9.					integral to membrane					0						CAGTCATCATGAGAATGTTCT	0.313		NaN											0	0	0	1	0	40	105				
LRRC37A3	374819	broad.mit.edu	37	17	62865241	62865241	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:62865241G>C	uc002jey.2	-	8	3481	c.2950C>G	c.(2950-2952)CTC>GTC	p.L984V	LRRC37A3_uc010wqg.1_Missense_Mutation_p.L102V|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L22V|LRRC37A3_uc010dek.1_Translation_Start_Site	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	984	Extracellular (Potential).|LRR 8.					integral to membrane					0						AATTTAAAGAGATATGGATCT	0.299		NaN											0	0	0	1	0	40	126				
ABCA10	10349	broad.mit.edu	37	17	67145021	67145021	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:67145021C>T	uc010dfa.1	-	40	5458	c.4579G>A	c.(4579-4581)GAT>AAT	p.D1527N	ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.D519N|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1527					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCAATTTTATCATCAACATTT	0.348		NaN											0	0	0	1	0	18	71				
MRPL38	64978	broad.mit.edu	37	17	73895341	73895341	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:73895341C>G	uc010wso.1	-	8	1129	c.904G>C	c.(904-906)GAT>CAT	p.D302H	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	302						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTAGAAATCAAAAGTGCGG	0.557		NaN											0	0	0	1	0	5	14				
RNF213	57674	broad.mit.edu	37	17	78314035	78314035	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:78314035C>T	uc002jyh.1	+	1	310	c.87C>T	c.(85-87)CTC>CTT	p.L29L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCACCCCTCGAGGCCATCC	0.632		NaN											0	0	0	1	0	11	33				
HGS	9146	broad.mit.edu	37	17	79667810	79667810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:79667810C>T	uc002kbg.2	+	20	2179	c.2102C>T	c.(2101-2103)TCA>TTA	p.S701L	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	701	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GGGAGCCAGTCAGTCTCCATG	0.637		NaN											0	0	0	1	0	13	35				
CSNK1D	1453	broad.mit.edu	37	17	80223668	80223668	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80223668C>T	uc002kej.2	-	2	397	c.81G>A	c.(79-81)ACG>ACA	p.T27T	CSNK1D_uc002kef.2_Silent_p.T27T|CSNK1D_uc002kei.2_Silent_p.T27T|CSNK1D_uc010wvj.1_5'UTR	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	27	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CAGCAATGTCCGTACCTTGGC	0.438		NaN											0	0	0	1	0	37	76				
C17orf101	79701	broad.mit.edu	37	17	80373478	80373478	+	Missense_Mutation	SNP	C	C	T	rs116051835	by1000genomes	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80373478C>T	uc002keu.1	-	2	201	c.100G>A	c.(100-102)GAG>AAG	p.E34K	C17orf101_uc002ket.1_Missense_Mutation_p.E34K|C17orf101_uc010dip.1_RNA|HEXDC_uc002kev.3_5'Flank|HEXDC_uc010diq.2_5'Flank	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	34	Cytoplasmic (Potential).					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1						CTCTGCACCTCCCGCGGGGCT	0.637		NaN											0	0	0	1	0	14	23				
FOXK2	3607	broad.mit.edu	37	17	80477922	80477922	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr17:80477922C>T	uc002kfn.2	+	1	329	c.158C>T	c.(157-159)TCG>TTG	p.S53L	FOXK2_uc002kfm.1_Missense_Mutation_p.S53L|FOXK2_uc010diu.2_Missense_Mutation_p.S53L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	53	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AAGAAGCGCTCGGTGACCATC	0.557		NaN											0	0	0	1	0	13	22				
CLUL1	27098	broad.mit.edu	37	18	627295	627295	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:627295G>C	uc002kkp.2	+	5	767	c.622G>C	c.(622-624)GAG>CAG	p.E208Q	CLUL1_uc010wys.1_Missense_Mutation_p.E260Q|CLUL1_uc002kkq.2_Missense_Mutation_p.E208Q	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	208					cell death	extracellular region				ovary(2)	2						GATGCAGCAAGAGTTTGACCA	0.408		NaN											0	0	0	1	0	52	147				
LAMA1	284217	broad.mit.edu	37	18	6966276	6966276	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:6966276G>A	uc002knm.2	-	49	7014	c.6920C>T	c.(6919-6921)TCC>TTC	p.S2307F	LAMA1_uc002knl.2_5'Flank|LAMA1_uc010wzj.1_Missense_Mutation_p.S1783F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2307	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAATGGAAGGAAGGGTCTTC	0.448		NaN											0	0	0	1	0	9	20				
KIAA0802	23255	broad.mit.edu	37	18	8825631	8825631	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:8825631G>A	uc002knr.2	+	15	4265	c.4123G>A	c.(4123-4125)GAG>AAG	p.E1375K	KIAA0802_uc002knq.2_Missense_Mutation_p.E1334K|KIAA0802_uc002kns.2_Missense_Mutation_p.E715K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1685											0						CCCTGCCATCGAGAAGGTGCA	0.607		NaN											0	0	0	1	0	10	22				
TAF4B	6875	broad.mit.edu	37	18	23915183	23915183	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:23915183G>A	uc002kvu.3	+	13	2793	c.2304G>A	c.(2302-2304)CAG>CAA	p.Q768Q	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.Q773Q	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	768	Potential.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GATTAAAGCAGAAAGCCAAAG	0.383		NaN											0	0	0	1	0	8	23				
KLHL14	57565	broad.mit.edu	37	18	30350474	30350474	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:30350474C>A	uc002kxm.1	-	2	469	c.81G>T	c.(79-81)TGG>TGT	p.W27C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	27						cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCTGCTTCCTCCACAGCAGGT	0.642		NaN											1	0	2.70639e-06	1	2.76511e-06	21	22				
ATP8B1	5205	broad.mit.edu	37	18	55368464	55368464	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr18:55368464C>T	uc002lgw.2	-	4	475	c.475G>A	c.(475-477)GAC>AAC	p.D159N	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	159	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TCCACCAGGTCTTTGATTGCA	0.463		NaN							Byler_disease				0	0	0	1	0	14	27				
PCSK4	54760	broad.mit.edu	37	19	1487786	1487786	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1487786G>A	uc002ltb.1	-	5	653	c.591C>T	c.(589-591)AAC>AAT	p.N197N	PCSK4_uc002lta.2_Missense_Mutation_p.T39I	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	197	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCACCGGTTCTCTTTGC	0.682		NaN											0	0	0	1	0	6	3				
ADAMTSL5	339366	broad.mit.edu	37	19	1508069	1508069	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1508069C>T	uc002ltd.2	-	7	973	c.529G>A	c.(529-531)GAG>AAG	p.E177K	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.E187K	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	177						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGGTCCTCGAGGGCACCC	0.682		NaN											0	0	0	1	0	6	11				
ATP8B3	148229	broad.mit.edu	37	19	1785612	1785612	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:1785612G>A	uc002ltw.2	-	26	3483	c.3249C>T	c.(3247-3249)ATC>ATT	p.I1083I	ATP8B3_uc002ltv.2_Silent_p.I1046I|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1083	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCATGGGCGATGGCTTGGA	0.607		NaN											0	0	0	1	0	6	10				
C3	718	broad.mit.edu	37	19	6678241	6678241	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:6678241C>T	uc002mfm.2	-	40	4834	c.4772G>A	c.(4771-4773)AGA>AAA	p.R1591K	C3_uc002mfl.2_Missense_Mutation_p.R327K	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1591	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGGGCTTCTCTGCACTTGAT	0.587		NaN											0	0	0	1	0	16	31				
MUC16	94025	broad.mit.edu	37	19	9057637	9057637	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:9057637C>T	uc002mkp.2	-	3	30013	c.29809G>A	c.(29809-29811)GAA>AAA	p.E9937K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9939	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGATCACTTCAGTGATGATG	0.453		NaN											0	0	0	1	0	64	115				
EPOR	2057	broad.mit.edu	37	19	11489167	11489167	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:11489167C>T	uc002mrj.1	-	8	1156	c.1020G>A	c.(1018-1020)GGG>GGA	p.G340G	EPOR_uc002mrh.2_5'UTR|EPOR_uc002mri.2_Silent_p.G167G|EPOR_uc002mrk.1_Silent_p.G167G|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Silent_p.G167G	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	340	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CCTGCATCGTCCCCCAGCAGC	0.632		NaN											0	0	0	1	0	17	21				
ZNF441	126068	broad.mit.edu	37	19	11890924	11890924	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:11890924G>A	uc010dyj.2	+	4	479	c.285G>A	c.(283-285)GAG>GAA	p.E95E	ZNF441_uc002msn.3_Silent_p.E51E	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGTGAACGAGAAAATACCTG	0.413		NaN											0	0	0	1	0	21	53				
KLF1	10661	broad.mit.edu	37	19	12997900	12997900	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:12997900G>A	uc002mvo.2	-	1	118	c.55C>T	c.(55-57)CCC>TCC	p.P19S		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	19	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGGAAGGGGCCCAGGGCG	0.657		NaN											0	0	0	1	0	23	38				
AKAP8L	26993	broad.mit.edu	37	19	15512157	15512157	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:15512157G>A	uc002naw.1	-	5	719	c.620C>T	c.(619-621)GCC>GTC	p.A207V	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A146V|AKAP8L_uc002nay.1_Missense_Mutation_p.A207V|AKAP8L_uc002naz.2_Missense_Mutation_p.A55V	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	207						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CTGGCCCCGGGCCCCCATGGG	0.692		NaN											0	0	0	1	0	13	54				
FCHO1	23149	broad.mit.edu	37	19	17889421	17889421	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:17889421C>T	uc010ebb.2	+	19	1544	c.1355C>T	c.(1354-1356)TCT>TTT	p.S452F	FCHO1_uc002nhg.3_Missense_Mutation_p.S452F|FCHO1_uc002nhh.2_Missense_Mutation_p.S452F|FCHO1_uc010xpw.1_Missense_Mutation_p.S402F|FCHO1_uc002nhi.2_5'UTR|FCHO1_uc002nhj.2_5'UTR	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	452										breast(1)	1						CCCCAAGGCTCTAGCAGCCTG	0.682		NaN											0	0	0	1	0	3	2				
IL12RB1	3594	broad.mit.edu	37	19	18174783	18174783	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:18174783G>A	uc002nhw.1	-	13	1585	c.1521C>T	c.(1519-1521)CTC>CTT	p.L507L	IL12RB1_uc010xqb.1_Silent_p.L507L|IL12RB1_uc002nhx.1_Silent_p.L547L	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	507	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						GCAGGCCACTGAGGGTAACTT	0.647		NaN											0	0	0	1	0	9	19				
ZNF93	81931	broad.mit.edu	37	19	20044424	20044424	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:20044424G>C	uc002non.2	+	4	771	c.660G>C	c.(658-660)AAG>AAC	p.K220N		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	220	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ATACACATAAGAGAATTCATA	0.368		NaN											0	0	0	1	0	11	31				
ZNF257	113835	broad.mit.edu	37	19	22271978	22271978	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:22271978C>G	uc010ecx.2	+	4	1595	c.1426C>G	c.(1426-1428)CAA>GAA	p.Q476E	ZNF257_uc010ecy.2_Missense_Mutation_p.Q444E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	476	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTACTCAACATAAAAT	0.383		NaN											0	0	0	1	0	16	31				
ETV2	2116	broad.mit.edu	37	19	36135582	36135582	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:36135582G>C	uc002oas.2	+	6	1380	c.941G>C	c.(940-942)AGA>ACA	p.R314T	ETV2_uc002oar.2_Missense_Mutation_p.R286T|ETV2_uc002oat.2_Missense_Mutation_p.R193T|ETV2_uc002oau.2_Missense_Mutation_p.R99T	NM_014209	NP_055024	O00321	ETV2_HUMAN	ets variant gene 2	285							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCGCAAGAGAAAGCCGGGC	0.672		NaN											0	0	0	1	0	4	18				
ZBTB32	27033	broad.mit.edu	37	19	36206116	36206116	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:36206116C>T	uc002oay.2	+	2	798	c.588C>T	c.(586-588)CTC>CTT	p.L196L	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	196					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAACGCCTCCAAGCCCCTG	0.587		NaN											0	0	0	1	0	18	40				
PSG3	5671	broad.mit.edu	37	19	43236942	43236942	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:43236942G>C	uc002oue.2	-	3	835	c.703C>G	c.(703-705)CTC>GTC	p.L235V	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.L257V	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	235					defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				TCACGGAGGAGATTCAGGGTG	0.537		NaN											0	0	0	1	0	98	270				
DHDH	27294	broad.mit.edu	37	19	49445720	49445720	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:49445720C>T	uc002ple.1	+	5	683	c.643C>T	c.(643-645)CTC>TTC	p.L215F		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	215					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TGTCACGGTGCTCCTGCAGTA	0.428		NaN											0	0	0	1	0	6	21				
ZNF613	79898	broad.mit.edu	37	19	52448420	52448420	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:52448420T>C	uc002pxz.1	+	6	1707	c.1284T>C	c.(1282-1284)TAT>TAC	p.Y428Y	ZNF613_uc002pya.1_Silent_p.Y392Y	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	428	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGAAACCCTATGTATGCAATG	0.423		NaN											0	0	0	1	0	30	32				
VSTM1	284415	broad.mit.edu	37	19	54545036	54545036	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:54545036G>A	uc002qcw.3	-	8	764	c.588C>T	c.(586-588)CTC>CTT	p.L196L	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.L165L	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	196						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GACTCACCGAGAGAGATACCC	0.463		NaN											0	0	0	1	0	7	10				
CNOT3	4849	broad.mit.edu	37	19	54649696	54649696	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:54649696G>A	uc002qdj.1	+	9	1065	c.754G>A	c.(754-756)GAG>AAG	p.E252K	CNOT3_uc010yel.1_Missense_Mutation_p.E252K|CNOT3_uc002qdi.2_Missense_Mutation_p.E165K|CNOT3_uc002qdk.1_Missense_Mutation_p.E252K|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	252					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGAGGATGAGATCTTCAA	0.642		NaN											0	0	0	1	0	15	25				
ZNF548	147694	broad.mit.edu	37	19	57911010	57911010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:57911010G>A	uc002qom.2	+	3	1605	c.1355G>A	c.(1354-1356)AGA>AAA	p.R452K	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.R455K	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	452	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACGAGTGCAGAGAGTGTGGG	0.468		NaN											0	0	0	1	0	18	32				
SLC27A5	10998	broad.mit.edu	37	19	59012064	59012064	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr19:59012064C>T	uc002qtc.2	-	5	1302	c.1192G>A	c.(1192-1194)GAC>AAC	p.D398N	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	398	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGTGTCCGGTCCTCTGGTTGC	0.572		NaN											0	0	0	1	0	17	22				
TPO	7173	broad.mit.edu	37	2	1460027	1460027	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:1460027G>A	uc002qww.2	+	7	883	c.792G>A	c.(790-792)GAG>GAA	p.E264E	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.E264E|TPO_uc002qwr.2_Silent_p.E264E|TPO_uc002qwx.2_Silent_p.E264E|TPO_uc010yio.1_Silent_p.E264E|TPO_uc010yip.1_Silent_p.E264E	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	264	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGACTTGTGAGAACCAAAACC	0.443		NaN											0	0	0	1	0	8	30				
HADHA	3030	broad.mit.edu	37	2	26424095	26424095	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:26424095C>G	uc002rgy.2	-	13	1445	c.1315G>C	c.(1315-1317)GAA>CAA	p.E439Q	HADHA_uc010yks.1_Missense_Mutation_p.E352Q	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	439					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCGGCCTTTTCAAAACCTTGG	0.423		NaN											0	0	0	1	0	16	39				
HADHB	3032	broad.mit.edu	37	2	26486347	26486347	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:26486347C>T	uc002rgz.2	+	4	460	c.209C>T	c.(208-210)TCA>TTA	p.S70L	HADHB_uc010yku.1_RNA|HADHB_uc010ykv.1_Missense_Mutation_p.S48L|HADHB_uc010ykw.1_Missense_Mutation_p.S70L|HADHB_uc002rha.2_Missense_Mutation_p.S70L	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	70					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGCACTTCGTAAGTATGA	0.378		NaN											0	0	0	1	0	16	57				
LBH	81606	broad.mit.edu	37	2	30457350	30457350	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:30457350C>T	uc002rne.2	+	2	314	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	limb bud and heart development homolog	36					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus					0	Acute lymphoblastic leukemia(172;0.155)					CCTCAGCCCCCGCAAGGATGG	0.498		NaN											0	0	0	1	0	16	52				
PRKD3	23683	broad.mit.edu	37	2	37513430	37513430	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513430C>G	uc002rqd.2	-	5	1355	c.800G>C	c.(799-801)AGA>ACA	p.R267T	PRKD3_uc002rqf.1_Missense_Mutation_p.R267T	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	267					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AACTTTCACTCTGCACATTAC	0.448		NaN											0	0	0	1	0	18	47				
PRKD3	23683	broad.mit.edu	37	2	37513444	37513444	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513444C>A	uc002rqd.2	-	5	1341	c.786G>T	c.(784-786)AAG>AAT	p.K262N	PRKD3_uc002rqf.1_Missense_Mutation_p.K262N	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	262					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				ACATTACCATCTTTTCCATCC	0.433		NaN											1	0	1.15088e-07	1	1.1852e-07	14	53				
LRPPRC	10128	broad.mit.edu	37	2	44170868	44170868	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:44170868G>A	uc002rtr.2	-	23	2520	c.2462C>T	c.(2461-2463)TCC>TTC	p.S821F	LRPPRC_uc010yob.1_Missense_Mutation_p.S721F	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	821	PPR 13.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TATGTTGGTGGATGGTTCTGC	0.358		NaN											0	0	0	1	0	32	108				
USP34	9736	broad.mit.edu	37	2	61622361	61622361	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:61622361G>A	uc002sbe.2	-	4	582	c.560C>T	c.(559-561)TCA>TTA	p.S187L		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	187					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TTCTTGAGTTGATATATCCTA	0.234		NaN											0	0	0	1	0	13	21				
C2orf86	51057	broad.mit.edu	37	2	63349172	63349172	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:63349172G>A	uc002sch.2	-	18	2656	c.2210C>T	c.(2209-2211)TCT>TTT	p.S737F	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S578F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S545F	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	737					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						CATTTTGAGAGAACCACCATC	0.279		NaN											0	0	0	1	0	15	59				
ATP6V1B1	525	broad.mit.edu	37	2	71189911	71189911	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:71189911G>A	uc002shj.2	+	9	877	c.790G>A	c.(790-792)GAG>AAG	p.E264K	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.E264K|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.E222K	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	264					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CTCCAGGATCGAGCGGATCAT	0.582		NaN											0	0	0	1	0	10	59				
LBX2	85474	broad.mit.edu	37	2	74725261	74725261	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:74725261G>A	uc002slv.3	-	2	395	c.390C>T	c.(388-390)GTC>GTT	p.V130V	LBX2_uc002slw.2_Silent_p.V126V	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	130	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAACCAAGTGACCACCTGCG	0.667		NaN											0	0	0	1	0	15	34				
SFTPB	6439	broad.mit.edu	37	2	85893860	85893860	+	Silent	SNP	C	C	T	rs45478492		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:85893860C>T	uc002sqh.2	-	4	279	c.273G>A	c.(271-273)ACG>ACA	p.T91T	SFTPB_uc002sqi.2_Silent_p.T103T|SFTPB_uc002sqj.2_Silent_p.T91T	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	91	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						ACTTCCTCATCGTGTCCTGGG	0.632		NaN											0	0	0	1	0	43	103				
FER1L5	90342	broad.mit.edu	37	2	97365429	97365429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:97365429C>T	uc010fia.2	+	42	4834	c.4834C>T	c.(4834-4836)CAT>TAT	p.H1612Y	FER1L5_uc002sws.3_Missense_Mutation_p.H330Y|FER1L5_uc002swt.3_Missense_Mutation_p.H330Y|FER1L5_uc010yus.1_Missense_Mutation_p.H329Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1612						integral to membrane				ovary(1)	1						CTTTGGAGCTCATTGTGGGCT	0.527		NaN											0	0	0	1	0	38	80				
TMEM131	23505	broad.mit.edu	37	2	98382950	98382950	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:98382950T>C	uc002syh.3	-	34	4793	c.4564A>G	c.(4564-4566)AAA>GAA	p.K1522E		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1522						integral to membrane				ovary(4)|central_nervous_system(2)	6						CCTTTTGTTTTCTGGGCATTT	0.393		NaN											0	0	0	1	0	15	46				
TBC1D8	11138	broad.mit.edu	37	2	101656805	101656805	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:101656805G>A	uc010fiv.2	-	6	1001	c.870C>T	c.(868-870)TTC>TTT	p.F290F	TBC1D8_uc010yvw.1_Silent_p.F305F|TBC1D8_uc002tau.3_Silent_p.F47F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	290	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GCAACCTGAAGAAAGCCCGGA	0.572		NaN											0	0	0	1	0	6	16				
RGPD4	285190	broad.mit.edu	37	2	108496500	108496500	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:108496500T>A	uc010ywk.1	+	21	5083	c.5001T>A	c.(4999-5001)GAT>GAA	p.D1667E	RGPD4_uc002tdu.2_Missense_Mutation_p.D854E|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1667					intracellular transport		binding			skin(2)	2						AAAGTGCAGATCACTTAAACG	0.453		NaN											0	0	0	1	0	35	123				
IL1F6	27179	broad.mit.edu	37	2	113763586	113763586	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:113763586C>A	uc010yxr.1	+	2	46	c.46C>A	c.(46-48)CAG>AAG	p.Q16K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	interleukin 1 family, member 6 (epsilon)	16					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding				0						GGGGAGCATTCAGGATATCAA	0.468		NaN											1	0	3.69857e-22	1	3.90991e-22	29	45				
EPB41L5	57669	broad.mit.edu	37	2	120844814	120844814	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:120844814C>G	uc002tmg.2	+	11	997	c.871C>G	c.(871-873)CAG>GAG	p.Q291E	EPB41L5_uc010flk.2_Missense_Mutation_p.Q291E|EPB41L5_uc010fll.2_Missense_Mutation_p.Q291E|EPB41L5_uc002tmh.3_Missense_Mutation_p.Q291E|EPB41L5_uc010flm.2_Missense_Mutation_p.Q95E	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	291	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AGATGATGATCAGGTAGGAAT	0.294		NaN											0	0	0	1	0	9	50				
FAM123C	205147	broad.mit.edu	37	2	131521644	131521644	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:131521644C>G	uc002trw.2	+	2	2189	c.1999C>G	c.(1999-2001)CTG>GTG	p.L667V	FAM123C_uc010fmv.2_Missense_Mutation_p.L667V|FAM123C_uc010fms.1_Missense_Mutation_p.L667V|FAM123C_uc010fmt.1_Missense_Mutation_p.L667V|FAM123C_uc010fmu.1_Missense_Mutation_p.L667V	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	667										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGTGACACTCTGGATGCAGA	0.652		NaN											0	0	0	1	0	8	17				
LRP1B	53353	broad.mit.edu	37	2	141816461	141816461	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:141816461G>C	uc002tvj.1	-	9	2371	c.1399C>G	c.(1399-1401)CAA>GAA	p.Q467E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	467	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTGTTGGTTGAGTTCTTTTT	0.358		NaN								TSP Lung(27;0.18)			0	0	0	1	0	10	42				
ARL6IP6	151188	broad.mit.edu	37	2	153591519	153591519	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:153591519C>G	uc002tyn.2	+	3	1182	c.466C>G	c.(466-468)CTA>GTA	p.L156V	ARL6IP6_uc002tym.2_RNA|ARL6IP6_uc002tyo.2_Missense_Mutation_p.L48V	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	156	Helical; (Potential).					integral to membrane					0						ATTCTGGACTCTACTTATAAT	0.363		NaN											0	0	0	1	0	25	87				
CCDC148	130940	broad.mit.edu	37	2	159195330	159195330	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:159195330C>G	uc002tzq.2	-	7	935	c.672G>C	c.(670-672)TTG>TTC	p.L224F	CCDC148_uc002tzr.2_Missense_Mutation_p.L72F|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.L171F|CCDC148_uc010foj.1_Missense_Mutation_p.L72F|CCDC148_uc010fok.1_Missense_Mutation_p.L138F|CCDC148_uc002tzs.1_Missense_Mutation_p.L224F	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	224										ovary(2)	2						TTGAAGATTTCAAATCAGGGT	0.353		NaN											0	0	0	1	0	18	52				
PLA2R1	22925	broad.mit.edu	37	2	160824175	160824175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:160824175C>T	uc002ube.1	-	20	2986	c.2779G>A	c.(2779-2781)GAA>AAA	p.E927K	PLA2R1_uc010zcp.1_Missense_Mutation_p.E927K|PLA2R1_uc002ubf.2_Missense_Mutation_p.E927K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	927	Extracellular (Potential).|C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GAACACTCTTCACTACCCCAG	0.403		NaN											0	0	0	1	0	18	87				
FAP	2191	broad.mit.edu	37	2	163076436	163076436	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:163076436C>G	uc002ucd.2	-	7	622	c.414_splice	c.e7-1	p.G138_splice	FAP_uc010zct.1_Splice_Site_p.G113_splice|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Splice_Site_p.G105_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TACAAATTCTCTAGAAGGAAA	0.294		NaN											0	0	0	1	0	16	28				
SCN3A	6328	broad.mit.edu	37	2	165956858	165956858	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:165956858C>G	uc002ucx.2	-	22	4412	c.3920G>C	c.(3919-3921)AGA>ACA	p.R1307T	SCN3A_uc002ucy.2_Missense_Mutation_p.R1258T|SCN3A_uc002ucz.2_Missense_Mutation_p.R1258T|SCN3A_uc002uda.1_Missense_Mutation_p.R1127T|SCN3A_uc002udb.1_Missense_Mutation_p.R1127T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1307	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TCTTAAAGCTCTTAATGTCCG	0.378		NaN											0	0	0	1	0	7	66				
SCN2A	6326	broad.mit.edu	37	2	166243479	166243479	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:166243479T>C	uc002udc.2	+	26	5065	c.4775T>C	c.(4774-4776)ATT>ACT	p.I1592T	SCN2A_uc002udd.2_Missense_Mutation_p.I1592T|SCN2A_uc002ude.2_Missense_Mutation_p.I1592T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1592	Helical; Name=S3 of repeat IV; (Potential).|IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TATTTCACTATTGGATGGAAT	0.343		NaN											0	0	0	1	0	18	72				
SCN1A	6323	broad.mit.edu	37	2	166901813	166901813	+	Missense_Mutation	SNP	C	C	G	rs138602926		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:166901813C>G	uc010zcz.1	-	10	1420	c.1402G>C	c.(1402-1404)GAA>CAA	p.E468Q	SCN1A_uc002udo.3_Missense_Mutation_p.E337Q|SCN1A_uc010fpk.2_Missense_Mutation_p.E337Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	468						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGGAATGTTCTGAGGCAGTT	0.458		NaN											0	0	0	1	0	8	115				
PDE11A	50940	broad.mit.edu	37	2	178528629	178528629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:178528629C>A	uc002ulq.2	-	19	2929	c.2611G>T	c.(2611-2613)GAG>TAG	p.E871*	PDE11A_uc010zfd.1_Nonsense_Mutation_p.E62*|PDE11A_uc002ulp.2_Nonsense_Mutation_p.E427*|PDE11A_uc002ulr.2_Nonsense_Mutation_p.E621*|PDE11A_uc002uls.1_Nonsense_Mutation_p.E513*|PDE11A_uc002ult.1_Nonsense_Mutation_p.E621*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.E513*	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	871	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAATCCACTCCAGTTGCAAC	0.438		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				1	0	7.93312e-07	1	8.13734e-07	13	51				
PDE11A	50940	broad.mit.edu	37	2	178545621	178545621	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:178545621C>G	uc002ulq.2	-	16	2674	c.2356G>C	c.(2356-2358)GAA>CAA	p.E786Q	PDE11A_uc002ulp.2_Missense_Mutation_p.E342Q|PDE11A_uc002ulr.2_Missense_Mutation_p.E536Q|PDE11A_uc002uls.1_Missense_Mutation_p.E428Q|PDE11A_uc002ult.1_Missense_Mutation_p.E536Q|PDE11A_uc002ulu.1_Missense_Mutation_p.E428Q	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	786	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAGAATTCAGTTCTCCTC	0.353		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	1	0	4	23				
TTN	7273	broad.mit.edu	37	2	179596906	179596906	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:179596906G>C	uc010zfg.1	-	54	13282	c.13058C>G	c.(13057-13059)TCT>TGT	p.S4353C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1014C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5280							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGCAGTAGACTCCACAAA	0.433		NaN											0	0	0	1	0	59	151				
ANKRD44	91526	broad.mit.edu	37	2	197870475	197870475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:197870475C>T	uc002uua.1	-	21	2292	c.2215G>A	c.(2215-2217)GAC>AAC	p.D739N	ANKRD44_uc002utz.3_Missense_Mutation_p.D471N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	764	ANK 22.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAACAACAGTCCTCCTCAGAA	0.522		NaN											0	0	0	1	0	10	126				
SATB2	23314	broad.mit.edu	37	2	200137286	200137286	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:200137286G>A	uc002uuy.1	-	11	2667	c.1850C>T	c.(1849-1851)TCT>TTT	p.S617F	SATB2_uc010fsq.1_Missense_Mutation_p.S499F|SATB2_uc002uuz.1_Missense_Mutation_p.S617F|SATB2_uc002uva.1_Missense_Mutation_p.S617F	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	617	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTTGTGCGAGACCGGGGCTT	0.557		NaN											0	0	0	1	0	24	66				
ABI2	10152	broad.mit.edu	37	2	204244965	204244965	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:204244965G>A	uc002vaa.2	+	3	555	c.320G>A	c.(319-321)AGA>AAA	p.R107K	ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.R107K|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.R107K|ABI2_uc010zij.1_Missense_Mutation_p.R51K|ABI2_uc002vab.2_Missense_Mutation_p.R62K|ABI2_uc010zik.1_5'UTR|ABI2_uc010zil.1_5'UTR|ABI2_uc010zim.1_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	107	t-SNARE coiled-coil homology.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						GTTGCAAGAAGAGAAATTGGT	0.299		NaN											0	0	0	1	0	17	48				
PIKFYVE	200576	broad.mit.edu	37	2	209190134	209190134	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:209190134C>G	uc002vcz.2	+	20	2757	c.2599C>G	c.(2599-2601)CAA>GAA	p.Q867E	PIKFYVE_uc010fun.1_Missense_Mutation_p.Q548E|PIKFYVE_uc002vcy.1_Missense_Mutation_p.Q811E	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	867					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TTATCATTCTCAACTAGAAAT	0.433		NaN											0	0	0	1	0	19	64				
PTH2R	5746	broad.mit.edu	37	2	209307167	209307167	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:209307167C>G	uc002vdb.2	+	5	703	c.490C>G	c.(490-492)CTC>GTC	p.L164V	PTH2R_uc010zjb.1_Missense_Mutation_p.L175V	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	164	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTGGCTATTCTCATCATTGG	0.438		NaN											0	0	0	1	0	34	82				
MAP2	4133	broad.mit.edu	37	2	210558518	210558518	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:210558518G>T	uc002vde.1	+	7	1872	c.1624G>T	c.(1624-1626)GAT>TAT	p.D542Y	MAP2_uc002vdc.1_Missense_Mutation_p.D542Y|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D538Y	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	542					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AATGAGAGTTGATGACAAAGA	0.383		NaN											1	0	2.12542e-12	1	2.21969e-12	28	64				
C2orf24	27013	broad.mit.edu	37	2	220039607	220039607	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:220039607A>G	uc002vju.3	-	5	555	c.403T>C	c.(403-405)TAT>CAT	p.Y135H	C2orf24_uc002vjv.2_Missense_Mutation_p.Y135H	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	135					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding				0		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCATCATAGAGGTACTTA	0.582		NaN											0	0	0	1	0	19	42				
EPHA4	2043	broad.mit.edu	37	2	222347094	222347094	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:222347094G>A	uc002vmq.2	-	5	1338	c.1296C>T	c.(1294-1296)GTC>GTT	p.V432V	EPHA4_uc002vmr.2_Silent_p.V432V|EPHA4_uc010zlm.1_Silent_p.V373V|EPHA4_uc010zln.1_Silent_p.V432V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	432	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGTCACAGTGACAGAAACTG	0.373		NaN											0	0	0	1	0	8	125				
ALPPL2	251	broad.mit.edu	37	2	233274450	233274450	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:233274450C>G	uc002vss.3	+	11	1520	c.1467C>G	c.(1465-1467)CCC>CCG	p.P489P		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	489					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCCTGGAGCCCTACACCGCCT	0.741		NaN											0	0	0	1	0	5	9				
INPP5D	3635	broad.mit.edu	37	2	234102561	234102561	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:234102561G>C	uc010zmo.1	+	22	2703	c.2550G>C	c.(2548-2550)GAG>GAC	p.E850D	INPP5D_uc010zmp.1_Missense_Mutation_p.E849D	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	850					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCAGGGGGAGATCAAGCTGC	0.617		NaN											0	0	0	1	0	15	50				
USP40	55230	broad.mit.edu	37	2	234429685	234429685	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:234429685C>G	uc010zmr.1	-	16	2310	c.2310G>C	c.(2308-2310)CAG>CAC	p.Q770H	USP40_uc010zmt.1_Missense_Mutation_p.Q414H	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	758					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGATTCTAACTGGCATAAAT	0.343		NaN											0	0	0	1	0	9	27				
CHGB	1114	broad.mit.edu	37	20	5903125	5903125	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:5903125T>C	uc002wmg.2	+	4	641	c.335T>C	c.(334-336)ATC>ACC	p.I112T	CHGB_uc010zqz.1_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	112						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						GAGGAGGACATCCAAGGCCCA	0.602		NaN											0	0	0	1	0	12	28				
SNRPB2	6629	broad.mit.edu	37	20	16719545	16719545	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:16719545C>A	uc002wph.1	+	5	643	c.427C>A	c.(427-429)CAG>AAG	p.Q143K	SNRPB2_uc002wpi.1_Missense_Mutation_p.Q143K	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	143						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						ACCAAATCCTCAGGTAATTTT	0.328		NaN											1	0	2.0095e-06	1	2.05715e-06	6	16				
RALGAPA2	57186	broad.mit.edu	37	20	20563711	20563711	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:20563711T>A	uc002wrz.2	-	20	2833	c.2690A>T	c.(2689-2691)GAT>GTT	p.D897V	RALGAPA2_uc010gcx.2_Missense_Mutation_p.D601V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D345V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	897					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						ATTTGAAGCATCGGTGGGACT	0.463		NaN											0	0	0	1	0	16	26				
ASXL1	171023	broad.mit.edu	37	20	31024321	31024321	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:31024321C>T	uc002wxs.2	+	12	4232	c.3806C>T	c.(3805-3807)TCG>TTG	p.S1269L	ASXL1_uc010geb.2_Missense_Mutation_p.S1160L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1269					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.L1266fs*9(1)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CTTACTACCTCGAGAACACCT	0.493		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	19	60				
NDRG3	57446	broad.mit.edu	37	20	35310978	35310978	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:35310978C>T	uc002xfw.2	-	7	469	c.387G>A	c.(385-387)CTG>CTA	p.L129L	NDRG3_uc002xfx.2_Silent_p.L117L|NDRG3_uc010zvq.1_Silent_p.L34L|NDRG3_uc010zvr.1_Silent_p.L17L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	129					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				TGATGCTTTTCAGGCTGTGAA	0.373		NaN											0	0	0	1	0	39	48				
PPP1R16B	26051	broad.mit.edu	37	20	37524349	37524349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:37524349C>T	uc002xje.2	+	4	652	c.463C>T	c.(463-465)CAG>TAG	p.Q155*	PPP1R16B_uc010ggc.2_Nonsense_Mutation_p.Q155*	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	155	ANK 2.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GATCCTCGTTCAGTAGTACGT	0.468		NaN											0	0	0	1	0	9	18				
SEMG2	6407	broad.mit.edu	37	20	43850441	43850441	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:43850441T>C	uc010ggz.2	+	2	225	c.168T>C	c.(166-168)CAT>CAC	p.H56H	SEMG2_uc002xnk.2_Silent_p.H56H|SEMG2_uc002xnl.2_Silent_p.H56H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	56					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACCAACAACATACTAAATCCA	0.403		NaN											0	0	0	1	0	25	82				
NFATC2	4773	broad.mit.edu	37	20	50140650	50140650	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:50140650C>T	uc002xwd.2	-	2	351	c.131_splice	c.e2-1	p.E44_splice	NFATC2_uc002xwc.2_Splice_Site_p.E44_splice|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Splice_Site_p.E24_splice|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Splice_Site_p.E24_splice	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,						B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TTCGGCTCTTCTGGAAAGAGA	0.537		NaN											0	0	0	1	0	13	32				
SPO11	23626	broad.mit.edu	37	20	55909876	55909876	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:55909876G>C	uc002xye.2	+	6	674	c.581G>C	c.(580-582)TGT>TCT	p.C194S	SPO11_uc002xyf.2_Missense_Mutation_p.C156S	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	194					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAAGTGAATTGTACCTGTGGT	0.343		NaN						Editing_and_processing_nucleases					0	0	0	1	0	10	33				
SYCP2	10388	broad.mit.edu	37	20	58467098	58467098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:58467098C>T	uc002yaz.2	-	23	2450	c.2311G>A	c.(2311-2313)GAG>AAG	p.E771K		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	771					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AATTCTTTCTCTGCTTTTCTA	0.333		NaN											0	0	0	1	0	15	35				
ADRM1	11047	broad.mit.edu	37	20	60878723	60878723	+	Silent	SNP	G	G	A	rs144780505		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:60878723G>A	uc002ycn.2	+	2	179	c.99G>A	c.(97-99)CTG>CTA	p.L33L	ADRM1_uc011aai.1_Silent_p.L33L|ADRM1_uc002yco.2_Silent_p.L33L|ADRM1_uc002ycp.1_5'Flank	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	33	PH.|Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGATGTCCCTGAAGGGGACCA	0.597		NaN											0	0	0	1	0	40	82				
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:61513083C>T	uc002ydr.1	-	16	4489	c.4225G>A	c.(4225-4227)GAG>AAG	p.E1409K	DIDO1_uc002yds.1_Missense_Mutation_p.E1409K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602		NaN											0	0	0	1	0	44	72				
CHRNA4	1137	broad.mit.edu	37	20	61991019	61991019	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:61991019C>T	uc002yes.2	-	2	287	c.109G>A	c.(109-111)GAG>AAG	p.E37K	CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	37	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGCCGCTCCTCGGCGTGGGCC	0.667		NaN											0	0	0	1	0	11	28				
STMN3	50861	broad.mit.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:62273466C>G	uc002yfr.1	-	4	560	c.478G>C	c.(478-480)GAG>CAG	p.E160Q	STMN3_uc011abb.1_Missense_Mutation_p.E160Q	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	160	Potential.				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCACCTTCTCGCGCAGCCGC	0.368		NaN											0	0	0	1	0	3	15				
STMN3	50861	broad.mit.edu	37	20	62275132	62275132	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr20:62275132C>G	uc002yfr.1	-	3	350	c.268G>C	c.(268-270)GAG>CAG	p.E90Q	STMN3_uc011abb.1_Missense_Mutation_p.E90Q	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	90	Potential.				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCGGCTGCCTCCAGCCGCTTT	0.642		NaN											0	0	0	1	0	13	36				
ADAMTS5	11096	broad.mit.edu	37	21	28302318	28302318	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr21:28302318C>T	uc002ymg.2	-	7	2841	c.2112G>A	c.(2110-2112)GTG>GTA	p.V704V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	704	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AGCCAGTTCTCACACACTTCC	0.493		NaN											0	0	0	1	0	48	75				
IFNGR2	3460	broad.mit.edu	37	21	34804515	34804515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr21:34804515C>G	uc002yrp.3	+	5	1241	c.593C>G	c.(592-594)TCA>TGA	p.S198*	IFNGR2_uc002yrq.3_Nonsense_Mutation_p.S217*|IFNGR2_uc010gma.2_Nonsense_Mutation_p.S119*|IFNGR2_uc002yrr.3_Nonsense_Mutation_p.S119*	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	198	Extracellular (Potential).|Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	AACTCCATTTCATTGGATAAC	0.403		NaN											0	0	0	1	0	7	80				
CECR6	27439	broad.mit.edu	37	22	17601328	17601328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:17601328C>T	uc002zmb.2	-	1	886	c.690G>A	c.(688-690)TGG>TGA	p.W230*	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	230											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CAGTGGCGATCCAGGAGCACC	0.701		NaN											0	0	0	1	0	3	6				
NF2	4771	broad.mit.edu	37	22	30057257	30057257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:30057257G>T	uc003age.3	+	8	1182	c.739G>T	c.(739-741)GAG>TAG	p.E247*	NF2_uc003afy.3_Nonsense_Mutation_p.E247*|NF2_uc003afz.3_Nonsense_Mutation_p.E164*|NF2_uc003agf.3_Nonsense_Mutation_p.E247*|NF2_uc003agb.3_Nonsense_Mutation_p.E170*|NF2_uc003agc.3_Nonsense_Mutation_p.E209*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.E247*|NF2_uc003aga.3_Nonsense_Mutation_p.E205*|NF2_uc003agh.3_Nonsense_Mutation_p.E206*|NF2_uc003agi.3_Nonsense_Mutation_p.E164*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.E209*	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	247	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(1)|p.E247fs*4(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.E247K(1)|p.L127_D382del(1)|p.L140_P252del(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						TTATGACCCTGAGAACAGACT	0.502		NaN	D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				1	0	4.00102e-26	1	4.2383e-26	42	45				
SCUBE1	80274	broad.mit.edu	37	22	43627846	43627846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:43627846C>T	uc003bdt.1	-	8	968	c.880G>A	c.(880-882)GAC>AAC	p.D294N		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	294	EGF-like 7; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGAAGTGGTCGCAGCCTCCG	0.647		NaN									OREG0026615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	4	16				
SLC6A11	6538	broad.mit.edu	37	3	10960123	10960123	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:10960123G>A	uc003bvz.2	+	8	1139	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	369					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACCCATTGCTGAGGTGGCAGA	0.567		NaN											0	0	0	1	0	9	29				
GRIP2	80852	broad.mit.edu	37	3	14563188	14563188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:14563188C>T	uc011avi.1	-	8	964	c.964G>A	c.(964-966)GAG>AAG	p.E322K	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	225	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						AAGAGTGCCTCGTGGCTGCAC	0.672		NaN											0	0	0	1	0	8	11				
SS18L2	51188	broad.mit.edu	37	3	42632421	42632421	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42632421G>C	uc003clk.1	+	1	124	c.32G>C	c.(31-33)AGG>ACG	p.R11T	SEC22C_uc003cli.2_Intron	NM_016305	NP_057389	Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on	11											0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GACTGGCTGAGGGGCAAGGCG	0.572		NaN											0	0	0	1	0	12	49				
NKTR	4820	broad.mit.edu	37	3	42680599	42680599	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42680599G>C	uc003clo.2	+	13	3550	c.3403G>C	c.(3403-3405)GAT>CAT	p.D1135H	NKTR_uc003clm.1_Missense_Mutation_p.D882H|NKTR_uc003clp.2_Missense_Mutation_p.D882H|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.D1025H|NKTR_uc003clr.1_Missense_Mutation_p.D882H|NKTR_uc003cls.2_Missense_Mutation_p.D835H	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1135					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCACTCCTGATAGGAGTTC	0.448		NaN											0	0	0	1	0	26	55				
KBTBD5	131377	broad.mit.edu	37	3	42727254	42727254	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:42727254C>T	uc003clv.1	+	1	244	c.144C>T	c.(142-144)CGC>CGT	p.R48R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	48	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGTGCCATCGCCTGGTGCTGG	0.692		NaN											0	0	0	1	0	7	28				
ZNF445	353274	broad.mit.edu	37	3	44497005	44497005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:44497005G>C	uc003cnf.2	-	3	385	c.37C>G	c.(37-39)CAG>GAG	p.Q13E	ZNF445_uc011azv.1_Missense_Mutation_p.Q13E|ZNF445_uc011azw.1_Missense_Mutation_p.Q13E	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GACTGGGCCTGAGCTGGATAG	0.567		NaN											0	0	0	1	0	5	44				
ZNF197	10168	broad.mit.edu	37	3	44683588	44683588	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:44683588G>A	uc003cnm.2	+	6	1172	c.966G>A	c.(964-966)AAG>AAA	p.K322K	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATACAGTGAAGAAAGTTTCCC	0.443		NaN											0	0	0	1	0	21	43				
KLHL18	23276	broad.mit.edu	37	3	47385224	47385224	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:47385224G>C	uc003crd.2	+	10	1644	c.1518G>C	c.(1516-1518)CTG>CTC	p.L506L	KLHL18_uc011bav.1_Silent_p.L394L	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	506	Kelch 5.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		AGTGGTGCCTGATTGTCCCCA	0.622		NaN											0	0	0	1	0	21	70				
CELSR3	1951	broad.mit.edu	37	3	48665891	48665891	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:48665891C>T	uc003cuf.1	-	52	11991	c.11991G>A	c.(11989-11991)CAG>CAA	p.Q3997Q	SLC26A6_uc003cug.2_Silent_p.Q571Q|SLC26A6_uc003cuh.2_Silent_p.Q592Q|SLC26A6_uc010hke.2_Silent_p.Q443Q|SLC26A6_uc003cuk.2_Silent_p.Q485Q|SLC26A6_uc003cui.2_Silent_p.Q592Q|SLC26A6_uc003cuj.2_Silent_p.Q592Q|SLC26A6_uc011bbp.1_Silent_p.Q556Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTCCTCTTTCTGCAGTTGCT	0.388		NaN											0	0	0	1	0	38	96				
RHOA	387	broad.mit.edu	37	3	49397643	49397643	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:49397643C>T	uc003cwu.2	-	5	857	c.581G>A	c.(580-582)TGA>TAA	p.*194*	RHOA_uc010hku.2_Silent_p.*113*|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	194					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AGCAAGGTTTCACAAGACAAG	0.403		NaN											0	0	0	1	0	36	92				
RHOA	387	broad.mit.edu	37	3	49397721	49397721	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:49397721C>G	uc003cwu.2	-	5	779	c.503G>C	c.(502-504)AGA>ACA	p.R168T	RHOA_uc010hku.2_Missense_Mutation_p.R87T|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	168					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAAACCTCTCTCACTCCATC	0.493		NaN											0	0	0	1	0	40	104		Valid		
PCBP4	57060	broad.mit.edu	37	3	51994209	51994209	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:51994209C>T	uc003dcd.1	-	5	779	c.383G>A	c.(382-384)CGA>CAA	p.R128Q	PCBP4_uc003dcb.1_Missense_Mutation_p.R94Q|PCBP4_uc003dcc.1_Missense_Mutation_p.R94Q|PCBP4_uc003dce.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcf.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcg.1_Missense_Mutation_p.R94Q|PCBP4_uc003dch.1_Missense_Mutation_p.R128Q|PCBP4_uc003dci.1_Missense_Mutation_p.R51Q|PCBP4_uc003dcj.1_Missense_Mutation_p.R128Q|PCBP4_uc003dck.1_Missense_Mutation_p.R128Q|PCBP4_uc003dcl.1_Missense_Mutation_p.R128Q	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	128	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTCACCTCTCGGATCTCCTT	0.592		NaN											0	0	0	1	0	15	56				
PBRM1	55193	broad.mit.edu	37	3	52692314	52692314	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:52692314C>G	uc003des.2	-	5	558	c.546G>C	c.(544-546)TTG>TTC	p.L182F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.L182F|PBRM1_uc003der.2_Missense_Mutation_p.L182F|PBRM1_uc003det.2_Missense_Mutation_p.L182F|PBRM1_uc003deu.2_Missense_Mutation_p.L182F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.L182F|PBRM1_uc010hmk.1_Missense_Mutation_p.L182F|PBRM1_uc003dey.2_Missense_Mutation_p.L182F|PBRM1_uc003dez.1_Missense_Mutation_p.L182F|PBRM1_uc003dfb.1_Missense_Mutation_p.L80F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	182					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGATCTCCTTCAAGTAAGCTG	0.373		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	4	51				
ITIH4	3700	broad.mit.edu	37	3	52858879	52858879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:52858879C>T	uc003dfz.2	-	7	891	c.855G>A	c.(853-855)ATG>ATA	p.M285I	ITIH4_uc011bel.1_Missense_Mutation_p.M15I|ITIH4_uc003dfy.2_Missense_Mutation_p.M149I|ITIH4_uc011bem.1_Missense_Mutation_p.M285I|ITIH4_uc011ben.1_Missense_Mutation_p.M285I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	285	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCCTGCCACTCATGGAGCCGC	0.572		NaN											0	0	0	1	0	37	71				
PRKCD	5580	broad.mit.edu	37	3	53215603	53215603	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:53215603G>T	uc003dgl.2	+	6	873	c.520G>T	c.(520-522)GTG>TTG	p.V174L	PRKCD_uc003dgm.2_Missense_Mutation_p.V174L|PRKCD_uc003dgn.2_Missense_Mutation_p.V174L|PRKCD_uc010hmt.1_5'Flank	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	174	Phorbol-ester/DAG-type 1.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTTCTGTTCTGTGTGCAAAGA	0.567		NaN											1	0	5.3912e-06	1	5.48653e-06	19	59				
DCBLD2	131566	broad.mit.edu	37	3	98538214	98538214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:98538214G>A	uc003dtd.2	-	8	1282	c.919C>T	c.(919-921)CAA>TAA	p.Q307*	DCBLD2_uc003dte.2_Nonsense_Mutation_p.Q307*	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	307	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GCTGTTATTTGAGGATCCGCG	0.448		NaN											0	0	0	1	0	14	21				
CEP97	79598	broad.mit.edu	37	3	101476575	101476575	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:101476575G>A	uc003dvk.1	+	9	1152	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	CEP97_uc010hpm.1_Silent_p.T341T|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Silent_p.T71T|CEP97_uc003dvm.1_Silent_p.T213T	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	375	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						TACACACTACGAGATATTCTC	0.398		NaN											0	0	0	1	0	21	62				
WDR52	55779	broad.mit.edu	37	3	113098284	113098284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:113098284G>A	uc003eae.1	-	17	2213	c.2167C>T	c.(2167-2169)CAG>TAG	p.Q723*		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	723	Glu-rich.									central_nervous_system(1)	1						tcctcctcctGAAATTCTTTT	0.333		NaN											0	0	0	1	0	29	72				
IGSF11	152404	broad.mit.edu	37	3	118647366	118647366	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:118647366G>A	uc003ebw.2	-	3	661	c.414C>T	c.(412-414)CTC>CTT	p.L138L	IGSF11_uc011biv.1_Silent_p.L138L|IGSF11_uc003ebx.2_Silent_p.L138L|IGSF11_uc003eby.2_Silent_p.L137L|IGSF11_uc003ebz.2_Silent_p.L137L|IGSF11_uc010hqs.2_Silent_p.L137L	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	138	Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CTAACACTGTGAGACCGGTGA	0.493		NaN											0	0	0	1	0	12	42				
GOLGB1	2804	broad.mit.edu	37	3	121414111	121414111	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:121414111C>T	uc003eei.3	-	13	5370	c.5244G>A	c.(5242-5244)GAG>GAA	p.E1748E	GOLGB1_uc010hrc.2_Silent_p.E1753E|GOLGB1_uc003eej.3_Silent_p.E1714E|GOLGB1_uc011bjm.1_Silent_p.E1634E|GOLGB1_uc010hrd.1_Silent_p.E1712E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1748	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GAGAGTCTTTCTCAGACATTA	0.378		NaN											0	0	0	1	0	42	99				
ALG1L	200810	broad.mit.edu	37	3	125649405	125649405	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:125649405G>C	uc003eig.1	-	5	507	c.343C>G	c.(343-345)CTG>GTG	p.L115V		NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	115							transferase activity, transferring glycosyl groups				0						GCTACCTGCAGAGCTGCCAGT	0.582		NaN											0	0	0	1	0	17	33				
TMCC1	23023	broad.mit.edu	37	3	129373852	129373852	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:129373852T>A	uc003emz.3	-	6	2107	c.1606A>T	c.(1606-1608)AAA>TAA	p.K536*	TMCC1_uc003emy.3_Nonsense_Mutation_p.K212*|TMCC1_uc011blc.1_Nonsense_Mutation_p.K357*|TMCC1_uc010htg.2_Nonsense_Mutation_p.K422*	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	536	Potential.					integral to membrane				skin(1)	1						TACGCGATTTTTTCTTCCATG	0.423		NaN											0	0	0	1	0	23	70				
WWTR1	25937	broad.mit.edu	37	3	149260194	149260194	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:149260194C>G	uc003exe.2	-	3	715	c.699G>C	c.(697-699)CAG>CAC	p.Q233H	WWTR1_uc003exf.2_Missense_Mutation_p.Q233H|WWTR1_uc011bns.1_Missense_Mutation_p.Q233H|WWTR1_uc003exh.2_Missense_Mutation_p.Q233H	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Potential.|Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCT	0.577		NaN											0	0	0	1	0	8	40				
IGSF10	285313	broad.mit.edu	37	3	151163897	151163897	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:151163897A>T	uc011bod.1	-	4	3872	c.3872T>A	c.(3871-3873)TTC>TAC	p.F1291Y		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1291					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGGGTGGGAAGGGAAGCTC	0.433		NaN											0	0	0	1	0	53	124				
SGEF	26084	broad.mit.edu	37	3	153870637	153870637	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:153870637C>G	uc011bog.1	+	6	1614	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C	SGEF_uc011boh.1_Missense_Mutation_p.S468C	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	468	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTAAAAATTCTAAAGAACTG	0.363		NaN											0	0	0	1	0	5	8				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	6	50		Valid		
CHRD	8646	broad.mit.edu	37	3	184103022	184103022	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr3:184103022C>T	uc003fov.2	+	14	2060	c.1814C>T	c.(1813-1815)TCA>TTA	p.S605L	CHRD_uc003fow.2_Missense_Mutation_p.S235L|CHRD_uc003fox.2_Missense_Mutation_p.S605L|CHRD_uc003foy.2_Missense_Mutation_p.S235L|CHRD_uc010hyc.2_Missense_Mutation_p.S195L|CHRD_uc011brr.1_Missense_Mutation_p.S235L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	605	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTATGGCTCAGAGGTAAGG	0.582		NaN											0	0	0	1	0	18	62				
WHSC1	7468	broad.mit.edu	37	4	1977056	1977056	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:1977056C>T	uc003gdz.3	+	20	3726	c.3550C>T	c.(3550-3552)CTG>TTG	p.L1184L	WHSC1_uc003geb.3_Silent_p.L1184L|WHSC1_uc003gec.3_Silent_p.L1184L|WHSC1_uc003ged.3_Silent_p.L1184L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.L403L|WHSC1_uc011bvh.1_Silent_p.L245L|WHSC1_uc010icf.2_Silent_p.L532L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1184	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCGATTGTCTGGGCAATGA	0.532		NaN	T	IGH@	MM								0	0	0	1	0	18	24				
WHSC2	7469	broad.mit.edu	37	4	1991499	1991499	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:1991499C>T	uc003gem.2	-	3	753	c.513G>A	c.(511-513)GTG>GTA	p.V171V	WHSC2_uc003gel.2_Silent_p.V85V|WHSC2_uc003gen.2_Silent_p.V25V	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	160					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GAAAATGCTTCACCGGGGGAG	0.612		NaN											0	0	0	1	0	50	94				
HAUS3	79441	broad.mit.edu	37	4	2238161	2238161	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:2238161C>G	uc003ges.1	-	4	1602	c.1372G>C	c.(1372-1374)GAG>CAG	p.E458Q	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E458Q|HAUS3_uc003get.1_Missense_Mutation_p.E458Q	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	458	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TTCTTATTCTCTCCCTCCAAA	0.313		NaN											0	0	0	1	0	22	33				
ZBTB49	166793	broad.mit.edu	37	4	4322918	4322918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:4322918G>A	uc003ghu.2	+	8	2348	c.2173G>A	c.(2173-2175)GAC>AAC	p.D725N	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.D208N|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.D303N	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCACGGCGGTGACCCCCTGGG	0.587		NaN											0	0	0	1	0	12	15				
MRFAP1L1	114932	broad.mit.edu	37	4	6711276	6711276	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:6711276G>A	uc003gjn.2	-	1	321	c.81C>T	c.(79-81)TTC>TTT	p.F27F	MRFAP1L1_uc003gjo.2_Silent_p.F27F	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	27											0						CCGGGAGCAGGAACTGCTCGA	0.632		NaN											0	0	0	1	0	21	32				
TBC1D14	57533	broad.mit.edu	37	4	7016174	7016174	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:7016174G>A	uc011bwg.1	+	12	1727	c.1648_splice	c.e12-1	p.M550_splice	TBC1D14_uc003gjs.3_Splice_Site_p.M550_splice|TBC1D14_uc010idh.2_Splice_Site_p.M270_splice|TBC1D14_uc011bwh.1_Splice_Site_p.M197_splice|TBC1D14_uc003gju.3_Splice_Site_p.M41_splice	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a							intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TATCTCCCTAGATGTTGACTT	0.299		NaN											0	0	0	1	0	4	7				
UGT2B10	7365	broad.mit.edu	37	4	69870721	69870721	+	Silent	SNP	A	A	G	rs111542944		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:69870721A>G	uc011cao.1	-	9	1465	c.1329T>C	c.(1327-1329)CAT>CAC	p.H443H	UGT2B10_uc011can.1_Silent_p.H359H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AGGTGAGGTCATGGGCTGCAA	0.478		NaN											0	0	0	1	0	6	96				
FRAS1	80144	broad.mit.edu	37	4	79229280	79229280	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:79229280G>C	uc003hlb.2	+	15	2035	c.1595G>C	c.(1594-1596)AGA>ACA	p.R532T	FRAS1_uc003hkw.2_Missense_Mutation_p.R532T|FRAS1_uc003hky.1_Missense_Mutation_p.R236T|FRAS1_uc003hkz.2_Missense_Mutation_p.R236T|FRAS1_uc003hla.1_Missense_Mutation_p.R43T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	532	FU 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTGGCCTGCAGAGATCCCCTC	0.577		NaN											0	0	0	1	0	5	11				
NUDT6	11162	broad.mit.edu	37	4	123814162	123814162	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:123814162C>T	uc003iew.2	-	5	804	c.772G>A	c.(772-774)GAA>AAA	p.E258K	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.E89K	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	258	Nudix hydrolase.			KTEN -> RTKH (in Ref. 4; AAA67062).		mitochondrion|nucleus	growth factor activity|hydrolase activity				0						GTTGTATTTTCAGTCTTCGCC	0.448		NaN											0	0	0	1	0	8	69				
ODZ3	55714	broad.mit.edu	37	4	183714402	183714402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:183714402G>A	uc003ivd.1	+	25	6614	c.6577G>A	c.(6577-6579)GAA>AAA	p.E2193K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2193	Extracellular (Potential).|YD 20.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGGTTGGATGAAGATGGTTT	0.483		NaN											0	0	0	1	0	20	41				
SNX25	83891	broad.mit.edu	37	4	186185662	186185662	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:186185662C>G	uc003ixh.2	+	4	499	c.310C>G	c.(310-312)CTA>GTA	p.L104V		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	104	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGTAAGATTTCTACAAACGTG	0.413		NaN											0	0	0	1	0	28	42				
TLR3	7098	broad.mit.edu	37	4	186997899	186997899	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr4:186997899G>A	uc003iyq.2	+	2	227	c.126G>A	c.(124-126)TTG>TTA	p.L42L		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	42	LRRNT.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACCTGAAGTTGACTCAGGTAC	0.498		NaN											0	0	0	1	0	4	47				
IRX1	79192	broad.mit.edu	37	5	3600251	3600251	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:3600251C>T	uc003jde.2	+	2	1241	c.1189C>T	c.(1189-1191)CCC>TCC	p.P397S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CGTTGGCGCTCCCCACGCCGC	0.662		NaN											0	0	0	1	0	7	39				
ADCY2	108	broad.mit.edu	37	5	7414870	7414870	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7414870C>T	uc003jdz.1	+	2	462	c.395C>T	c.(394-396)TCT>TTT	p.S132F		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GGCACCGTCTCTCCCTGGGAC	0.423		NaN											0	0	0	1	0	10	78				
MTRR	4552	broad.mit.edu	37	5	7878257	7878257	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7878257G>A	uc003jed.2	+	5	713	c.683G>A	c.(682-684)AGA>AAA	p.R228K	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.R201K|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	228	Hinge.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GATTCAGGAAGAAAGGATTCT	0.468		NaN											0	0	0	1	0	9	177				
MTRR	4552	broad.mit.edu	37	5	7878391	7878391	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7878391C>T	uc003jed.2	+	5	847	c.817C>T	c.(817-819)CCC>TCC	p.P273S	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.P246S|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	273	Hinge.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCCTGGTTTACCCCCAGAATA	0.423		NaN											0	0	0	1	0	41	242				
MTRR	4552	broad.mit.edu	37	5	7892992	7892992	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:7892992C>T	uc003jed.2	+	11	1634	c.1604C>T	c.(1603-1605)TCC>TTC	p.S535F	MTRR_uc003jee.3_Missense_Mutation_p.S508F|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	535	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATACATGCATCCCATGAAGAC	0.448		NaN											0	0	0	1	0	21	71				
FAM173B	134145	broad.mit.edu	37	5	10235356	10235356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:10235356G>T	uc003jeo.2	-	4	491	c.462C>A	c.(460-462)TAC>TAA	p.Y154*	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Intron	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	154						integral to membrane				kidney(1)|central_nervous_system(1)	2						CAACGTTCGAGTACTGCGAAA	0.428		NaN											1	0	0.000157383	1	0.000159539	6	42				
CDH9	1007	broad.mit.edu	37	5	26890543	26890543	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:26890543C>T	uc003jgs.1	-	8	1553	c.1384G>A	c.(1384-1386)GAA>AAA	p.E462K	CDH9_uc011cnv.1_Missense_Mutation_p.E55K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	462	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTACTTATTTCTGTGGCTGTA	0.393		NaN											0	0	0	1	0	21	126				
ADAMTS12	81792	broad.mit.edu	37	5	33596062	33596062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:33596062G>T	uc003jia.1	-	17	2794	c.2631C>A	c.(2629-2631)TGC>TGA	p.C877*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.C792*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	877	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCTTTTCATGGCACTTCTTCT	0.527		NaN								HNSCC(64;0.19)			1	0	2.94398e-08	1	3.05608e-08	17	112				
UGT3A1	133688	broad.mit.edu	37	5	35957426	35957426	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:35957426G>C	uc003jjv.1	-	5	1096	c.939C>G	c.(937-939)CTC>CTG	p.L313L	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L313L|UGT3A1_uc011cor.1_Silent_p.L279L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	313	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCTTCTTGAGGACTTCCT	0.493		NaN											0	0	0	1	0	6	85				
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:36265595G>C	uc003jkh.2	-	5	789	c.296C>G	c.(295-297)TCA>TGA	p.S99*	RANBP3L_uc011cow.1_Nonsense_Mutation_p.S124*	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	99					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299		NaN											0	0	0	1	0	15	75				
NUP155	9631	broad.mit.edu	37	5	37371053	37371053	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:37371053C>T	uc003jku.1	-	1	145	c.27G>A	c.(25-27)GCG>GCA	p.A9A	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Silent_p.A9A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	9					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGCCGGCATCGCCGCGCCCA	0.537		NaN											0	0	0	1	0	17	80				
PLCXD3	345557	broad.mit.edu	37	5	41382631	41382631	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:41382631G>A	uc003jmm.1	-	2	211	c.109C>T	c.(109-111)CAT>TAT	p.H37Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	37	PI-PLC X-box.	By similarity.			intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						AAGGAATCATGAGACCCTAGG	0.458		NaN											0	0	0	1	0	36	47				
PARP8	79668	broad.mit.edu	37	5	50091139	50091139	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:50091139C>T	uc003jon.3	+	13	1498	c.1316C>T	c.(1315-1317)TCA>TTA	p.S439L	PARP8_uc011cpz.1_Missense_Mutation_p.S331L|PARP8_uc003joo.2_Missense_Mutation_p.S439L|PARP8_uc003jop.2_Missense_Mutation_p.S439L	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	439						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCCCCAAGTCATCCAAAACT	0.438		NaN											0	0	0	1	0	22	50				
RNF180	285671	broad.mit.edu	37	5	63510308	63510308	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:63510308G>A	uc003jti.2	+	4	1265	c.1155G>A	c.(1153-1155)AGG>AGA	p.R385R	RNF180_uc003jth.3_Silent_p.R385R|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	385	Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATCTAAGAAGGAAACAACGAA	0.393		NaN											0	0	0	1	0	16	55				
AP3B1	8546	broad.mit.edu	37	5	77409639	77409639	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:77409639C>G	uc003kfj.2	-	19	2311	c.2186G>C	c.(2185-2187)GGA>GCA	p.G729A		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	729	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTCCCGTCCACTCTCACT	0.453		NaN							Hermansky-Pudlak_syndrome				0	0	0	1	0	10	92				
PAPD4	167153	broad.mit.edu	37	5	78944941	78944941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:78944941C>T	uc010jae.1	+	11	1373	c.955C>T	c.(955-957)CAG>TAG	p.Q319*	PAPD4_uc003kgb.2_Nonsense_Mutation_p.Q319*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.Q319*|PAPD4_uc003kga.2_Nonsense_Mutation_p.Q315*|PAPD4_uc003kfz.2_Intron	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	319					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAGTCACCATCAGATAAATGA	0.358		NaN											0	0	0	1	0	10	26				
ZFYVE16	9765	broad.mit.edu	37	5	79733262	79733262	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:79733262C>A	uc003kgr.3	+	4	1060	c.758C>A	c.(757-759)TCC>TAC	p.S253Y	ZFYVE16_uc010jak.1_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S253Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S253Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	253					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CGACAAAGTTCCAAAATGTTT	0.343		NaN											1	0	2.27525e-19	1	2.39063e-19	26	67				
ZFYVE16	9765	broad.mit.edu	37	5	79734015	79734015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:79734015C>G	uc003kgr.3	+	4	1813	c.1511C>G	c.(1510-1512)TCA>TGA	p.S504*	ZFYVE16_uc010jak.1_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgp.2_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgq.3_Nonsense_Mutation_p.S504*|ZFYVE16_uc003kgs.3_Nonsense_Mutation_p.S504*	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	504					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AATACTTTTTCAAGCAATGAT	0.403		NaN											0	0	0	1	0	26	53				
VCAN	1462	broad.mit.edu	37	5	82789485	82789485	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:82789485A>G	uc003kii.3	+	4	922	c.566A>G	c.(565-567)TAT>TGT	p.Y189C	VCAN_uc003kij.3_Missense_Mutation_p.Y189C|VCAN_uc010jau.2_Missense_Mutation_p.Y189C|VCAN_uc003kik.3_Missense_Mutation_p.Y189C|VCAN_uc003kih.3_Missense_Mutation_p.Y189C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	189	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTGCTGCCTATGAAGATGGA	0.522		NaN											0	0	0	1	0	30	79				
EDIL3	10085	broad.mit.edu	37	5	83239311	83239311	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:83239311C>T	uc003kio.1	-	11	1789	c.1370G>A	c.(1369-1371)AGA>AAA	p.R457K	EDIL3_uc003kip.1_Missense_Mutation_p.R447K	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	457	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AGGAAGGATTCTTATGTGTCG	0.468		NaN											0	0	0	1	0	11	42				
SPATA9	83890	broad.mit.edu	37	5	95011140	95011140	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:95011140C>T	uc003klj.1	-	3	510	c.354G>A	c.(352-354)CCG>CCA	p.P118P	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	118					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGGGTTGCCTCGGCGCATTAA	0.408		NaN											0	0	0	1	0	20	40				
RGMB	285704	broad.mit.edu	37	5	98129101	98129101	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:98129101G>A	uc003knc.2	+	5	1483	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	320					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCCCCTGAGTGAACGCATCGA	0.637		NaN											0	0	0	1	0	4	20				
MARCH3	115123	broad.mit.edu	37	5	126214081	126214081	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:126214081C>T	uc003kuf.2	-	4	854	c.399G>A	c.(397-399)CTG>CTA	p.L133L		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	133					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAGGGTTTCTCAGCCACTGCC	0.547		NaN											0	0	0	1	0	4	10				
AFF4	27125	broad.mit.edu	37	5	132270153	132270153	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:132270153G>A	uc003kyd.2	-	3	1012	c.604C>T	c.(604-606)CAC>TAC	p.H202Y	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.H202Y|AFF4_uc003kyf.3_Missense_Mutation_p.H202Y	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	202	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTATGGTGATCATTCCCA	0.488		NaN											0	0	0	1	0	21	73				
PCDHB8	56128	broad.mit.edu	37	5	140558545	140558545	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:140558545C>T	uc011dai.1	+	1	1116	c.930C>T	c.(928-930)TTC>TTT	p.F310F	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	310	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTGATTTCGAAAAATTTC	0.383		NaN											0	0	0	1	0	32	275				
SLC25A2	83884	broad.mit.edu	37	5	140682702	140682702	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:140682702C>T	uc003ljf.2	-	1	911	c.731G>A	c.(730-732)GGG>GAG	p.G244E		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	244	Helical; Name=6; (Potential).|Solcar 3.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCCTGTTTCCCATACATGGA	0.403		NaN											0	0	0	1	0	23	51				
KCTD16	57528	broad.mit.edu	37	5	143853407	143853407	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:143853407C>G	uc003lnm.1	+	4	1646	c.1017C>G	c.(1015-1017)ATC>ATG	p.I339M	KCTD16_uc003lnn.1_Missense_Mutation_p.I339M	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	339						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGACCAACATCCAGACTCTGG	0.582		NaN											0	0	0	1	0	19	63				
FAT2	2196	broad.mit.edu	37	5	150924410	150924410	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:150924410G>T	uc003lue.3	-	9	6291	c.6278C>A	c.(6277-6279)TCT>TAT	p.S2093Y	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2093	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGTGGCAGATACCTGAAA	0.443		NaN											1	0	8.16277e-20	1	8.59414e-20	36	100				
THG1L	54974	broad.mit.edu	37	5	157161651	157161651	+	Missense_Mutation	SNP	G	G	A	rs78234336		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:157161651G>A	uc003lxd.2	+	3	562	c.436G>A	c.(436-438)GAG>AAG	p.E146K	THG1L_uc011ddu.1_Intron	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	146					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATTACTTTGAGGACCAGCC	0.502		NaN											0	0	0	1	0	25	87				
ODZ2	57451	broad.mit.edu	37	5	167689355	167689355	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:167689355T>C	uc010jjd.2	+	29	7838	c.7838T>C	c.(7837-7839)GTG>GCG	p.V2613A	ODZ2_uc003lzr.3_Missense_Mutation_p.V2383A|ODZ2_uc003lzt.3_Missense_Mutation_p.V1986A|ODZ2_uc010jje.2_Missense_Mutation_p.V1877A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACTACTTTGTGAAGATTGGC	0.592		NaN											0	0	0	1	0	5	10				
UIMC1	51720	broad.mit.edu	37	5	176396246	176396246	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:176396246G>C	uc011dfp.1	-	6	677	c.510C>G	c.(508-510)ATC>ATG	p.I170M	UIMC1_uc003mfc.1_Missense_Mutation_p.I47M|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	170	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCCTGACTGATATGTGAGC	0.483		NaN											0	0	0	1	0	9	107				
AGXT2L2	85007	broad.mit.edu	37	5	177658513	177658513	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:177658513C>G	uc003miz.2	-	2	323	c.71G>C	c.(70-72)AGA>ACA	p.R24T	AGXT2L2_uc003mjc.2_5'UTR|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	24						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAAAAAGAGTCTGCAGGAAGA	0.547		NaN											0	0	0	1	0	32	94				
C5orf45	51149	broad.mit.edu	37	5	179264605	179264605	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr5:179264605C>G	uc003mla.2	-	7	862	c.818G>C	c.(817-819)AGA>ACA	p.R273T	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.R218T|C5orf45_uc003mlb.2_Missense_Mutation_p.R139T	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	273											0						GAGGCCTTCTCTTGAGGCCTG	0.632		NaN											0	0	0	1	0	31	64				
C6orf145	221749	broad.mit.edu	37	6	3723966	3723966	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:3723966C>G	uc003mvt.2	-	5	1064	c.583G>C	c.(583-585)GAG>CAG	p.E195Q		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	195					cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CTGCCATTCTCAAATCTGAAA	0.537		NaN											0	0	0	1	0	16	41				
KDM1B	221656	broad.mit.edu	37	6	18160153	18160153	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:18160153G>C	uc003ncn.1	+	3	268	c.27G>C	c.(25-27)AAG>AAC	p.K9N		NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	9					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						GGAGGACAAAGAAAAAAGCAT	0.333		NaN											0	0	0	1	0	6	22				
HIST1H2AD	3013	broad.mit.edu	37	6	26199400	26199400	+	Silent	SNP	G	G	C	rs150465023		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:26199400G>C	uc003ngw.2	-	1	72	c.72C>G	c.(70-72)CTC>CTG	p.L24L	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	24					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CAGGGAACTGGAGTCCGGCCC	0.612		NaN											0	0	0	1	0	17	31				
ZNF184	7738	broad.mit.edu	37	6	27419547	27419547	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:27419547C>T	uc003njj.2	-	5	2602	c.1791G>A	c.(1789-1791)CAG>CAA	p.Q597Q	ZNF184_uc010jqv.2_Silent_p.Q597Q|ZNF184_uc003nji.2_Silent_p.Q597Q	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	597	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGTGTATGTTCTGGTTGAATG	0.433		NaN											0	0	0	1	0	29	69				
ZNF323	64288	broad.mit.edu	37	6	28295307	28295307	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:28295307G>A	uc003nla.2	-	3	785	c.385C>T	c.(385-387)CCA>TCA	p.P129S	ZNF323_uc003nld.2_Missense_Mutation_p.P129S|ZNF323_uc010jra.2_Missense_Mutation_p.P129S|ZNF323_uc003nlb.2_5'UTR|ZNF323_uc010jrb.2_5'UTR|ZNF323_uc003nlc.2_Missense_Mutation_p.P129S	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	129					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCATGGTCTGGAGCCTGAAGG	0.423		NaN											0	0	0	1	0	23	66				
HLA-E	3133	broad.mit.edu	37	6	30458229	30458229	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:30458229G>A	uc003nqg.2	+	3	585	c.547G>A	c.(547-549)GAC>AAC	p.D183N	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.D224N	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	183	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						CTACCTGGAAGACACATGCGT	0.597		NaN											0	0	0	1	0	20	42				
BAT2	7916	broad.mit.edu	37	6	31599733	31599733	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:31599733G>A	uc003nvb.3	+	16	3532	c.3283G>A	c.(3283-3285)GAG>AAG	p.E1095K	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E1095K	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1095	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TTCAGAGTATGAGGAAATCCC	0.637		NaN											0	0	0	1	0	5	25				
TNXB	7148	broad.mit.edu	37	6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32029210G>A	uc003nzl.2	-	21	7658	c.7456C>T	c.(7456-7458)CGG>TGG	p.R2486W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2546	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCCACGCGCCGCCCCTCGTGG	0.647		NaN											0	0	0	1	0	37	84				
TNXB	7148	broad.mit.edu	37	6	32035515	32035515	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32035515C>G	uc003nzl.2	-	18	6669	c.6467G>C	c.(6466-6468)GGG>GCG	p.G2156A		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2228	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTACTTGCGCCCAGGCTCCAG	0.677		NaN											0	0	0	1	0	15	49				
ATF6B	1388	broad.mit.edu	37	6	32085730	32085730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:32085730C>T	uc003nzn.2	-	12	1363	c.1330G>A	c.(1330-1332)GAG>AAG	p.E444K	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_Missense_Mutation_p.E17K|ATF6B_uc003nzo.2_Missense_Mutation_p.E441K|ATF6B_uc003nzp.1_Missense_Mutation_p.E133K	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	444	Lumenal (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCTCTTGCTCTGAGAACCCC	0.602		NaN											0	0	0	1	0	13	19				
ITPR3	3710	broad.mit.edu	37	6	33648329	33648329	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:33648329C>G	uc011drk.1	+	33	4567	c.4348C>G	c.(4348-4350)CGG>GGG	p.R1450G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1450	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCTCCTGCCTCAGGTCTGCAG	0.647		NaN											0	0	0	1	0	14	37				
ANKS1A	23294	broad.mit.edu	37	6	34985672	34985672	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:34985672G>A	uc003ojx.3	+	11	1988	c.1846G>A	c.(1846-1848)GAA>AAA	p.E616K	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.E156K|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	616						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACCCAAAGCTGAACTCAAACT	0.582		NaN											0	0	0	1	0	44	124				
CD2AP	23607	broad.mit.edu	37	6	47544302	47544302	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:47544302G>C	uc003oyw.2	+	7	1228	c.772G>C	c.(772-774)GAG>CAG	p.E258Q		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	258					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TCAGAGTGTGGAGATAACAAA	0.303		NaN											0	0	0	1	0	21	76				
CD2AP	23607	broad.mit.edu	37	6	47544789	47544789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:47544789G>T	uc003oyw.2	+	8	1309	c.853G>T	c.(853-855)GAA>TAA	p.E285*		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	285	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGTACTAATGAAGATGAACT	0.269		NaN											1	0	3.83957e-06	1	3.91515e-06	11	113				
PKHD1	5314	broad.mit.edu	37	6	51497406	51497406	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:51497406C>T	uc003pah.1	-	65	11898	c.11622G>A	c.(11620-11622)CTG>CTA	p.L3874L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3874	Helical; (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CCAGACAGCTCAGAGCCAGCC	0.438		NaN											0	0	0	1	0	14	43				
ZNF451	26036	broad.mit.edu	37	6	57012191	57012191	+	Silent	SNP	T	T	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:57012191T>C	uc003pdm.1	+	10	1532	c.1308T>C	c.(1306-1308)TCT>TCC	p.S436S	ZNF451_uc003pdl.2_Silent_p.S436S|ZNF451_uc003pdn.1_Silent_p.S436S|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.S436S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTAAAGAATCTAGCTCACTGG	0.353		NaN											0	0	0	1	0	18	56				
PHF3	23469	broad.mit.edu	37	6	64395407	64395407	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:64395407C>G	uc003pep.1	+	3	1810	c.1784C>G	c.(1783-1785)TCT>TGT	p.S595C	PHF3_uc010kaf.1_Missense_Mutation_p.S595C|PHF3_uc003pem.2_Missense_Mutation_p.S548C|PHF3_uc010kag.1_Missense_Mutation_p.S507C|PHF3_uc010kah.1_Missense_Mutation_p.S409C|PHF3_uc003pen.2_Missense_Mutation_p.S507C|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S595C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	595					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAACTCATTCTTTGAGTGAT	0.378		NaN											0	0	0	1	0	16	58				
BAI3	577	broad.mit.edu	37	6	69640534	69640534	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:69640534G>A	uc003pev.3	+	4	1289	c.841G>A	c.(841-843)GAT>AAT	p.D281N	BAI3_uc010kak.2_Missense_Mutation_p.D281N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	281	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GGAACAAGCTGATGCTGCTAA	0.333		NaN											0	0	0	1	0	10	31				
B3GAT2	135152	broad.mit.edu	37	6	71665851	71665851	+	Missense_Mutation	SNP	C	C	G	rs9446312		TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:71665851C>G	uc003pfv.2	-	1	938	c.282G>C	c.(280-282)CAG>CAC	p.Q94H	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.Q94H	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	94	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GCTCCGCTTTCTGCACCGGGC	0.697		NaN											0	0	0	1	0	18	32				
ANKRD6	22881	broad.mit.edu	37	6	90333717	90333717	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:90333717G>C	uc003pni.3	+	12	1500	c.1159G>C	c.(1159-1161)GAG>CAG	p.E387Q	ANKRD6_uc003pne.3_Missense_Mutation_p.E387Q|ANKRD6_uc003pnf.3_Missense_Mutation_p.E352Q|ANKRD6_uc011dzy.1_Missense_Mutation_p.E387Q|ANKRD6_uc010kcd.2_Missense_Mutation_p.E328Q|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	387							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CCCACCCCATGAGTTCAGGGC	0.537		NaN											0	0	0	1	0	6	17				
RFX6	222546	broad.mit.edu	37	6	117243302	117243302	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:117243302G>C	uc003pxm.2	+	13	1488	c.1425G>C	c.(1423-1425)CAG>CAC	p.Q475H		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	475					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TGGTAGAACAGAGAGTTATTA	0.378		NaN											0	0	0	1	0	19	61				
RFX6	222546	broad.mit.edu	37	6	117252568	117252568	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:117252568C>G	uc003pxm.2	+	19	2749	c.2686C>G	c.(2686-2688)CAA>GAA	p.Q896E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	896					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						GTATCCAGCTCAAGAAACCCT	0.448		NaN											0	0	0	1	0	26	66				
THEMIS	387357	broad.mit.edu	37	6	128222209	128222209	+	Translation_Start_Site	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:128222209G>T	uc003qbi.2	-	2	188	c.-131C>A	c.(-133--129)CTCTG>CTATG		THEMIS_uc011ebt.1_Translation_Start_Site|THEMIS_uc010kfb.2_Intron	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						ACTACAGCCAGAGTGGGGTGG	0.507		NaN											1	0	0.004672	1	0.00469922	3	18				
ECT2L	345930	broad.mit.edu	37	6	139206926	139206926	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:139206926G>A	uc003qif.1	+	16	2321	c.2218G>A	c.(2218-2220)GCA>ACA	p.A740T	ECT2L_uc011edq.1_Intron	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	740	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						CTTGACCACTGCAATTGACCA	0.418		NaN											0	0	0	1	0	25	53				
NMBR	4829	broad.mit.edu	37	6	142409491	142409491	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:142409491G>C	uc003qiu.2	-	1	446	c.305C>G	c.(304-306)TCG>TGG	p.S102W		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	102	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GAAGTAGCGCGAGGCGTCCAC	0.592		NaN											0	0	0	1	0	15	23				
NUP43	348995	broad.mit.edu	37	6	150059906	150059906	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:150059906C>G	uc003qmz.2	-	5	568	c.511G>C	c.(511-513)GAT>CAT	p.D171H	NUP43_uc003qmx.3_5'Flank|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Intron	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	171	WD 4.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTACTACTATCTGCATTGTCT	0.333		NaN											0	0	0	1	0	25	85				
AKAP12	9590	broad.mit.edu	37	6	151671704	151671704	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:151671704C>T	uc011eep.1	+	4	2418	c.2178C>T	c.(2176-2178)GAC>GAT	p.D726D	AKAP12_uc003qoe.2_Silent_p.D726D|AKAP12_uc003qof.2_Silent_p.D628D|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.D621D	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	726					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGGGGACAGACGGGATCCTTG	0.587		NaN											0	0	0	1	0	40	101				
SYNE1	23345	broad.mit.edu	37	6	152477104	152477104	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:152477104C>T	uc010kiw.2	-	132	24521	c.23919G>A	c.(23917-23919)ACG>ACA	p.T7973T	SYNE1_uc010kiv.2_Silent_p.T2497T|SYNE1_uc003qos.3_Silent_p.T2497T|SYNE1_uc003qot.3_Silent_p.T7902T|SYNE1_uc003qou.3_Silent_p.T7973T|SYNE1_uc003qop.3_Silent_p.T135T|SYNE1_uc011eez.1_Silent_p.T175T|SYNE1_uc003qoq.3_Silent_p.T175T|SYNE1_uc003qor.3_Silent_p.T873T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7973	Spectrin 28.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGGTTTCTCGTAGCCTGCT	0.532		NaN								HNSCC(10;0.0054)			0	0	0	1	0	14	57				
THBS2	7058	broad.mit.edu	37	6	169648730	169648730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:169648730C>T	uc003qwt.2	-	4	639	c.391G>A	c.(391-393)GAC>AAC	p.D131N		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	131	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGGTGCCGTCAATCCAGTAG	0.652		NaN											0	0	0	1	0	27	60				
STK31	56164	broad.mit.edu	37	7	23810669	23810669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:23810669C>T	uc003sws.3	+	14	1826	c.1759C>T	c.(1759-1761)CAA>TAA	p.Q587*	STK31_uc003swt.3_Nonsense_Mutation_p.Q564*|STK31_uc011jze.1_Nonsense_Mutation_p.Q587*|STK31_uc010kuq.2_Nonsense_Mutation_p.Q564*	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	587							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TACATATAGTCAAGTACTGCA	0.348		NaN											0	0	0	1	0	30	96				
GHRHR	2692	broad.mit.edu	37	7	31018736	31018736	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:31018736G>A	uc003tbx.2	+	13	1197	c.1149G>A	c.(1147-1149)GTG>GTA	p.V383V	GHRHR_uc003tby.2_Silent_p.V319V|GHRHR_uc003tbz.2_Missense_Mutation_p.E150K	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	383	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	CCCTGGAGGTGAGGACTGAGA	0.592		NaN											0	0	0	1	0	10	46				
INHBA	3624	broad.mit.edu	37	7	41739721	41739721	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:41739721C>T	uc003thq.2	-	1	487	c.252G>A	c.(250-252)CTG>CTA	p.L84L	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.L84L|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	84					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TGATCGCGTTCAGAAGCGCCG	0.517		NaN								TSP Lung(11;0.080)			0	0	0	1	0	135	329				
CALN1	83698	broad.mit.edu	37	7	71571273	71571273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:71571273C>T	uc003twa.3	-	3	652	c.125G>A	c.(124-126)CGA>CAA	p.R42Q	CALN1_uc003twb.3_Missense_Mutation_p.R84Q|CALN1_uc003twc.3_Missense_Mutation_p.R42Q	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	42	EF-hand 1.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAAGGCCTCTCGGATTTCTAC	0.527		NaN											0	0	0	1	0	17	29				
GTF2I	2969	broad.mit.edu	37	7	74119540	74119540	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:74119540C>G	uc003uau.2	+	7	1001	c.631C>G	c.(631-633)CCA>GCA	p.P211A	GTF2I_uc003uat.2_Missense_Mutation_p.P211A|GTF2I_uc003uav.2_Missense_Mutation_p.P211A|GTF2I_uc003uaw.2_Missense_Mutation_p.P211A|GTF2I_uc003uay.2_Missense_Mutation_p.P211A|GTF2I_uc003uax.2_Missense_Mutation_p.P211A|uc003uaz.2_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	211					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AATACTATCTCCAGGTGGAAG	0.318		NaN											0	0	0	1	0	9	46				
SEMA3A	10371	broad.mit.edu	37	7	83823834	83823834	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:83823834C>T	uc003uhz.2	-	1	384	c.69G>A	c.(67-69)CAG>CAA	p.Q23Q		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	23					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCTTCCCATTCTGATAGTTTG	0.418		NaN											0	0	0	1	0	37	104				
ABCB1	5243	broad.mit.edu	37	7	87196174	87196174	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:87196174G>A	uc003uiz.1	-	7	875	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	ABCB1_uc011khc.1_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	153	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTATAGCATGAAAAAACTGT	0.418		NaN											0	0	0	1	0	9	41				
SLC26A5	375611	broad.mit.edu	37	7	103018061	103018061	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:103018061C>T	uc003vbz.2	-	18	2207	c.1971G>A	c.(1969-1971)GTG>GTA	p.V657V	SLC26A5_uc003vbt.1_Silent_p.V657V|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.V625V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	657	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CCAGAGTTTTCACTCCAACAG	0.443		NaN											0	0	0	1	0	18	43				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	1	0	9	27				
FAM71F1	84691	broad.mit.edu	37	7	128356937	128356937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:128356937C>G	uc003vno.1	+	2	373	c.320C>G	c.(319-321)TCG>TGG	p.S107W	FAM71F1_uc010llo.1_Missense_Mutation_p.S8W|FAM71F1_uc011koq.1_Silent_p.L31L|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.L28L|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.S107W	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	107										skin(1)	1						GTGACCTCCTCGGTACCCTGC	0.587		NaN											0	0	0	1	0	7	23				
TSPAN33	340348	broad.mit.edu	37	7	128806685	128806685	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:128806685G>A	uc003vop.1	+	6	755	c.526G>A	c.(526-528)GAC>AAC	p.D176N	TSPAN33_uc003voq.1_Missense_Mutation_p.D8N	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	176	Extracellular (Potential).					integral to membrane				ovary(1)	1						CTGCTCAGAAGACAACCCCAG	0.522		NaN											0	0	0	1	0	39	143				
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:141724872C>T	uc003vwy.2	+	8	959	c.905C>T	c.(904-906)GCG>GTG	p.A302V		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	302	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398		NaN											0	0	0	1	0	17	26				
MLL3	58508	broad.mit.edu	37	7	151860303	151860303	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr7:151860303G>A	uc003wla.2	-	43	10578	c.10359C>T	c.(10357-10359)TTC>TTT	p.F3453F	MLL3_uc003wkz.2_Silent_p.F2514F|MLL3_uc003wky.2_Silent_p.F962F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3453	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CGGAACTGTAGAAGGGAATCT	0.478		NaN	N		medulloblastoma								0	0	0	1	0	49	149				
C8orf79	57604	broad.mit.edu	37	8	12879157	12879157	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:12879157G>C	uc010lsq.2	+	5	1461	c.969G>C	c.(967-969)TGG>TGC	p.W323C	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.W236C|C8orf79_uc010lsr.2_Missense_Mutation_p.W197C	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	323							methyltransferase activity				0						ACTTGGAGTGGCTGAGAGCAC	0.423		NaN											0	0	0	1	0	4	41				
MSR1	4481	broad.mit.edu	37	8	16026273	16026273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:16026273C>T	uc003wwz.2	-	4	522	c.324G>A	c.(322-324)ATG>ATA	p.M108I	MSR1_uc010lsu.2_Missense_Mutation_p.M126I|MSR1_uc003wxa.2_Missense_Mutation_p.M108I|MSR1_uc003wxb.2_Missense_Mutation_p.M108I|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	108	Spacer (Probable).|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTGAAATCTCATTTCCTCTT	0.403		NaN											0	0	0	1	0	33	73				
TGS1	96764	broad.mit.edu	37	8	56695312	56695312	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:56695312G>A	uc003xsj.3	+	2	494	c.107G>A	c.(106-108)CGA>CAA	p.R36Q	TGS1_uc010lyh.2_Intron	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	36					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGCAGGGATCGAAAATTGTAC	0.313		NaN											0	0	0	1	0	21	55				
FAM110B	90362	broad.mit.edu	37	8	59059267	59059267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:59059267G>A	uc003xtj.1	+	5	1358	c.478G>A	c.(478-480)GCG>ACG	p.A160T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	160						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCACTCCTTCGCGGAGTCCCT	0.692		NaN											0	0	0	1	0	5	10				
C8orf34	116328	broad.mit.edu	37	8	69351819	69351819	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:69351819G>A	uc010lyz.2	+	2	204	c.155G>A	c.(154-156)CGT>CAT	p.R52H	C8orf34_uc010lyx.1_Missense_Mutation_p.R52H|C8orf34_uc010lyy.1_Missense_Mutation_p.R52H|C8orf34_uc003xyb.2_Missense_Mutation_p.R27H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	52					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAAGGGAACCGTGGACAACTT	0.403		NaN											0	0	0	1	0	17	38				
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:102213962C>G	uc003yka.2	-	3	423	c.8G>C	c.(7-9)CGT>CCT	p.R3P	ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	3						intracellular	zinc ion binding	p.R3P(2)		ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398		NaN											0	0	0	1	0	7	37				
FLJ43860	389690	broad.mit.edu	37	8	142490071	142490071	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:142490071G>T	uc003ywi.2	-	8	995	c.914C>A	c.(913-915)ACG>AAG	p.T305K	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	305							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCTCCTGACCGTGGCACCGTT	0.597		NaN											1	0	1.15088e-07	1	1.1852e-07	10	35				
CYHR1	50626	broad.mit.edu	37	8	145689921	145689921	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:145689921G>A	uc003zcv.2	-	2	302	c.168C>T	c.(166-168)AGC>AGT	p.S56S	CYHR1_uc003zcw.2_Silent_p.S56S|CYHR1_uc003zcx.2_Silent_p.S56S|CYHR1_uc003zcy.2_Silent_p.S56S|KIFC2_uc003zcz.2_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1 isoform 1	56						perinuclear region of cytoplasm	zinc ion binding				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTTCGTGTGTGCTCAGCCCTG	0.637		NaN											0	0	0	1	0	20	65				
DMRT3	58524	broad.mit.edu	37	9	990293	990293	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:990293C>T	uc003zgw.1	+	2	745	c.707C>T	c.(706-708)TCG>TTG	p.S236L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	236					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGGGCCCCTCGGGGACTGTT	0.572		NaN											0	0	0	1	0	18	46				
KDM4C	23081	broad.mit.edu	37	9	7174705	7174705	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:7174705G>A	uc003zkh.2	+	22	3727	c.3147G>A	c.(3145-3147)CAG>CAA	p.Q1049Q	KDM4C_uc011lmk.1_Silent_p.Q794Q|KDM4C_uc011lml.1_Silent_p.Q736Q	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	1049					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GCTCTTTCCAGAAGAAGTGCC	0.498		NaN											0	0	0	1	0	43	114				
PTPRD	5789	broad.mit.edu	37	9	8485769	8485769	+	Silent	SNP	C	C	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:8485769C>A	uc003zkk.2	-	27	3759	c.3048G>T	c.(3046-3048)GTG>GTT	p.V1016V	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.V1007V|PTPRD_uc003zkm.2_Silent_p.V1003V|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1016	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TACCTTGATCCACAGGCAGTG	0.448		NaN								TSP Lung(15;0.13)			1	0	5.9392e-07	1	6.10418e-07	4	9				
PTPRD	5789	broad.mit.edu	37	9	8633395	8633395	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:8633395C>G	uc003zkk.2	-	13	985	c.274G>C	c.(274-276)GAT>CAT	p.D92H	PTPRD_uc003zkp.2_Missense_Mutation_p.D92H|PTPRD_uc003zkq.2_Missense_Mutation_p.D92H|PTPRD_uc003zkr.2_Missense_Mutation_p.D92H|PTPRD_uc003zks.2_Missense_Mutation_p.D92H|PTPRD_uc003zkl.2_Missense_Mutation_p.D92H|PTPRD_uc003zkm.2_Missense_Mutation_p.D92H|PTPRD_uc003zkn.2_Missense_Mutation_p.D92H|PTPRD_uc003zko.2_Missense_Mutation_p.D92H|PTPRD_uc003zkt.1_Missense_Mutation_p.D92H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	92	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGGCCTCATCCCTCGGAGTC	0.443		NaN								TSP Lung(15;0.13)			0	0	0	1	0	28	72				
PSIP1	11168	broad.mit.edu	37	9	15474012	15474012	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:15474012C>T	uc003zlv.3	-	9	1183	c.853G>A	c.(853-855)GAA>AAA	p.E285K	PSIP1_uc003zlw.3_Missense_Mutation_p.E285K|PSIP1_uc003zlz.3_Missense_Mutation_p.E285K|PSIP1_uc003zma.3_Missense_Mutation_p.E276K|PSIP1_uc003zly.2_Missense_Mutation_p.E285K	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	285					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TATACCTTTTCACCTTCTTGA	0.249		NaN											0	0	0	1	0	8	46				
C9orf72	203228	broad.mit.edu	37	9	27561630	27561630	+	Silent	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:27561630G>C	uc003zqq.2	-	5	715	c.618C>G	c.(616-618)CTC>CTG	p.L206L	C9orf72_uc003zqr.1_Silent_p.L206L	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	206										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CATCATCATTGAGTACTGTAT	0.313		NaN											0	0	0	1	0	11	41				
BAG1	573	broad.mit.edu	37	9	33256861	33256861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:33256861C>T	uc003zsj.2	-	5	912	c.823G>A	c.(823-825)GAT>AAT	p.D275N	SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.D137N|BAG1_uc003zsk.2_Missense_Mutation_p.D101N	NM_004323	NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene isoform 1L	275	Interaction with PPP1R15A.|BAG.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACTCTCCTATCAAGTTTGCAG	0.428		NaN											0	0	0	1	0	22	66				
SLC28A3	64078	broad.mit.edu	37	9	86917179	86917179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:86917179G>A	uc010mpz.2	-	5	585	c.460C>T	c.(460-462)CGA>TGA	p.R154*	SLC28A3_uc011lsy.1_Nonsense_Mutation_p.R85*|SLC28A3_uc004anu.1_Nonsense_Mutation_p.R154*|SLC28A3_uc010mqb.2_Nonsense_Mutation_p.R85*	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	154	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TCATCAATTCGATGTTCGTAT	0.453		NaN											0	0	0	1	0	21	45				
ROR2	4920	broad.mit.edu	37	9	94493358	94493358	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:94493358C>T	uc004arj.1	-	7	1216	c.1017G>A	c.(1015-1017)CCG>CCA	p.P339P	ROR2_uc004ari.1_Silent_p.P199P|ROR2_uc004ark.2_Silent_p.P339P	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	339	Extracellular (Potential).|Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCAGGGCCCACGGCTGGCACT	0.612		NaN											0	0	0	1	0	33	51				
FGD3	89846	broad.mit.edu	37	9	95784614	95784614	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:95784614G>A	uc004asw.2	+	14	2128	c.1500G>A	c.(1498-1500)ACG>ACA	p.T500T	FGD3_uc004asx.2_Silent_p.T500T|FGD3_uc004asz.2_Silent_p.T500T|FGD3_uc011luc.1_Silent_p.T103T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	500					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TCTAGATCACGAGCACCAGCC	0.637		NaN											0	0	0	1	0	16	40				
ZNF462	58499	broad.mit.edu	37	9	109690005	109690005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:109690005C>T	uc004bcz.2	+	3	4101	c.3812C>T	c.(3811-3813)TCA>TTA	p.S1271L	ZNF462_uc010mto.2_Missense_Mutation_p.S1119L|ZNF462_uc004bda.2_Missense_Mutation_p.S1119L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1271	C2H2-type 11.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGGCAGTGCTCATATACCTCC	0.522		NaN											0	0	0	1	0	70	158				
ZNF462	58499	broad.mit.edu	37	9	109690177	109690177	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:109690177C>G	uc004bcz.2	+	3	4273	c.3984C>G	c.(3982-3984)CTC>CTG	p.L1328L	ZNF462_uc010mto.2_Silent_p.L1176L|ZNF462_uc004bda.2_Silent_p.L1176L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1328					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ACGGTTTGCTCCTGCATTACC	0.527		NaN											0	0	0	1	0	33	105				
KLF4	9314	broad.mit.edu	37	9	110250458	110250458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:110250458C>T	uc004bdh.2	-	3	811	c.190G>A	c.(190-192)GAC>AAC	p.D64N	KLF4_uc004bdf.1_Missense_Mutation_p.D23N|KLF4_uc004bdg.2_Missense_Mutation_p.D73N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	73					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						CTCTCCAGGTCTGTGGCCACG	0.697		NaN											0	0	0	1	0	5	20				
KIAA0368	23392	broad.mit.edu	37	9	114134882	114134882	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:114134882G>C	uc004bfe.1	-	43	4889	c.4889C>G	c.(4888-4890)TCT>TGT	p.S1630C		NM_001080398	NP_001073867			KIAA0368 protein												0						CAAAGCACAAGAGGTCTTGTA	0.363		NaN											0	0	0	1	0	5	24				
DBC1	1620	broad.mit.edu	37	9	121929416	121929416	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:121929416C>T	uc004bkc.2	-	8	2688	c.2232G>A	c.(2230-2232)CTG>CTA	p.L744L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	744					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CCGTGTTGTACAGGTCCAAGG	0.527		NaN											0	0	0	1	0	28	127				
DBC1	1620	broad.mit.edu	37	9	121930184	121930184	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:121930184C>T	uc004bkc.2	-	8	1920	c.1464G>A	c.(1462-1464)CTG>CTA	p.L488L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	488					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCAGGTACTTCAGCTCCAGGT	0.577		NaN											0	0	0	1	0	9	34				
SH2D3C	10044	broad.mit.edu	37	9	130506924	130506924	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:130506924G>A	uc004bsc.2	-	7	1861	c.1719C>T	c.(1717-1719)GGC>GGT	p.G573G	SH2D3C_uc010mxo.2_Silent_p.G413G|SH2D3C_uc004bry.2_Silent_p.G415G|SH2D3C_uc004brz.3_Silent_p.G219G|SH2D3C_uc011mak.1_Silent_p.G219G|SH2D3C_uc004bsa.2_Silent_p.G416G|SH2D3C_uc004bsb.2_Silent_p.G505G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	573					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						TGCGCAGAAGGCCCACCTCCA	0.612		NaN											0	0	0	1	0	31	93				
SETX	23064	broad.mit.edu	37	9	135153600	135153600	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:135153600G>A	uc004cbk.2	-	21	6882	c.6699C>T	c.(6697-6699)TTC>TTT	p.F2233F	SETX_uc004cbj.2_Silent_p.F1852F|SETX_uc010mzt.2_Silent_p.F1852F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2233					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCTGCAGAAGCGAGCCA	0.458		NaN											0	0	0	1	0	30	88				
FCN1	2219	broad.mit.edu	37	9	137809709	137809709	+	Silent	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:137809709C>G	uc004cfi.2	-	1	101	c.9G>C	c.(7-9)CTG>CTC	p.L3L		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	3					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGGCTCCACTCAGCTCCATGC	0.587		NaN											0	0	0	1	0	21	51				
SEC16A	9919	broad.mit.edu	37	9	139358973	139358973	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:139358973G>A	uc004chx.2	-	9	4654	c.4345C>T	c.(4345-4347)CAT>TAT	p.H1449Y	SEC16A_uc004chv.3_Missense_Mutation_p.H839Y|SEC16A_uc004chw.2_Missense_Mutation_p.H1449Y|SEC16A_uc010nbn.2_Missense_Mutation_p.H1449Y	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1271					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACAGACATGAGGCACTGAA	0.458		NaN											0	0	0	1	0	20	66				
C9orf86	55684	broad.mit.edu	37	9	139726762	139726762	+	Silent	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:139726762G>A	uc004cji.1	+	7	913	c.645G>A	c.(643-645)AAG>AAA	p.K215K	C9orf86_uc004cjm.2_Silent_p.K215K|C9orf86_uc004cjh.2_Silent_p.K215K|C9orf86_uc004cjj.1_Silent_p.K216K|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Silent_p.K215K|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Silent_p.K100K|C9orf86_uc004cjn.1_5'Flank	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	215	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CTTCCATGAAGAACAGCTTCG	0.493		NaN											0	0	0	1	0	25	58				
MXRA5	25878	broad.mit.edu	37	X	3239561	3239561	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239561C>T	uc004crg.3	-	5	4322	c.4165G>A	c.(4165-4167)GGG>AGG	p.G1389R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1389						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTAGCCTCCCAGGCTGGGCC	0.507		NaN											0	0	0	1	0	15	8				
MXRA5	25878	broad.mit.edu	37	X	3239741	3239741	+	Missense_Mutation	SNP	C	C	T	rs146955381	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239741C>T	uc004crg.3	-	5	4142	c.3985G>A	c.(3985-3987)GAT>AAT	p.D1329N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1329						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGCAACATCATCCTTAATT	0.373		NaN											0	0	0	1	0	41	35				
MXRA5	25878	broad.mit.edu	37	X	3239744	3239744	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:3239744C>T	uc004crg.3	-	5	4139	c.3982G>A	c.(3982-3984)GAT>AAT	p.D1328N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1328						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAACATCATCCTTAATTTCT	0.373		NaN											0	0	0	1	0	39	34				
PIR	8544	broad.mit.edu	37	X	15474083	15474083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:15474083G>C	uc004cwu.2	-	5	606	c.368C>G	c.(367-369)TCA>TGA	p.S123*	PIR_uc004cwv.2_Nonsense_Mutation_p.S123*	NM_003662	NP_003653	O00625	PIR_HUMAN	pirin	123					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			ovary(1)	1	Hepatocellular(33;0.183)					CATCTTCTCTGAGCTCCTCAA	0.527		NaN											0	0	0	1	0	24	146				
NHS	4810	broad.mit.edu	37	X	17750460	17750460	+	Missense_Mutation	SNP	G	G	C	rs140651691	byFrequency	TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:17750460G>C	uc004cxx.2	+	8	5107	c.4769G>C	c.(4768-4770)AGC>ACC	p.S1590T	NHS_uc011mix.1_Missense_Mutation_p.S1611T|NHS_uc004cxy.2_Missense_Mutation_p.S1434T|NHS_uc004cxz.2_Missense_Mutation_p.S1413T|NHS_uc004cya.2_Missense_Mutation_p.S1313T	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1590						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CCTGCAGCCAGCAGCAGCCGC	0.592		NaN											0	0	0	1	0	4	47				
CACNA1F	778	broad.mit.edu	37	X	49065842	49065842	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:49065842C>T	uc004dnb.2	-	42	4928	c.4866G>A	c.(4864-4866)CGG>CGA	p.R1622R	CACNA1F_uc010nip.2_Silent_p.R1611R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1622	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CCTGCAGGCTCCGCAGACCAG	0.468		NaN											0	0	0	1	0	6	10				
RRAGB	10325	broad.mit.edu	37	X	55784744	55784744	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:55784744G>A	uc004dup.2	+	11	1744	c.1093G>A	c.(1093-1095)GAT>AAT	p.D365N	RRAGB_uc004duq.2_Missense_Mutation_p.D337N	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	365					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						GGAAAGAGTGGATGGACCAAA	0.403		NaN											0	0	0	1	0	9	5				
ZNF75D	7626	broad.mit.edu	37	X	134425016	134425016	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:134425016C>G	uc004eyp.2	-	6	3397	c.742G>C	c.(742-744)GAG>CAG	p.E248Q	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.E27Q|ZNF75D_uc004eyo.2_Missense_Mutation_p.E153Q	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	248	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATTGCCACTCTTCCTCAGAA	0.393		NaN											0	0	0	1	0	8	85				
SLC9A6	10479	broad.mit.edu	37	X	135126738	135126738	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:135126738G>A	uc004ezj.2	+	16	1941	c.1865G>A	c.(1864-1866)GGA>GAA	p.G622E	SLC9A6_uc004ezk.2_Missense_Mutation_p.G654E	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	622					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGATTTATGGGAAACAGTTCT	0.468		NaN											0	0	0	1	0	23	17				
GPR112	139378	broad.mit.edu	37	X	135428058	135428058	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:135428058G>C	uc004ezu.1	+	6	2484	c.2193G>C	c.(2191-2193)TTG>TTC	p.L731F	GPR112_uc010nsb.1_Missense_Mutation_p.L526F|GPR112_uc010nsc.1_Missense_Mutation_p.L498F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	731	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TATCCAAATTGACATCACCAT	0.398		NaN											0	0	0	1	0	29	17				
GPR101	83550	broad.mit.edu	37	X	136113174	136113174	+	Silent	SNP	C	C	T			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:136113174C>T	uc011mwh.1	-	1	660	c.660G>A	c.(658-660)CGG>CGA	p.R220R		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	220	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CATGCTGCCTCCGGGCTGCAC	0.537		NaN											0	0	0	1	0	33	22				
MAGEC1	9947	broad.mit.edu	37	X	140996131	140996131	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:140996131G>C	uc004fbt.2	+	4	3227	c.2941G>C	c.(2941-2943)GAC>CAC	p.D981H	MAGEC1_uc010nsl.1_Missense_Mutation_p.D48H	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	981	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTAGACCTCACCTC	0.468		NaN								HNSCC(15;0.026)			0	0	0	1	0	52	44				
GPR50	9248	broad.mit.edu	37	X	150349067	150349067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrX:150349067G>A	uc010ntg.1	+	2	1147	c.1012G>A	c.(1012-1014)GCC>ACC	p.A338T	uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	338	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCCGCGCCCGTGCCCA	0.567		NaN											0	0	0	1	0	8	95				
RPS4Y2	140032	broad.mit.edu	37	Y	22918664	22918664	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chrY:22918664G>A	uc011nbb.1	+	2	100	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	2					translation	ribosome	rRNA binding|structural constituent of ribosome				0						TCTTTTTCAGGCCCGGGGCCC	0.433		NaN											0	0	0	1	0	6	10				
VPS13D	55187	broad.mit.edu	37	1	12460316	12460316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:12460316G>A	uc001atv.2	+	61	11854	c.11713G>A	c.(11713-11715)GAG>AAG	p.E3905K	VPS13D_uc001atw.2_Missense_Mutation_p.E3880K|VPS13D_uc001atx.2_Missense_Mutation_p.E3092K|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3904					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAGGTCATCGAGACCGGCCC	0.552		NaN											0	0	0	0.024245	0	14	32				
CASP9	842	broad.mit.edu	37	1	15831211	15831211	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:15831211C>T	uc001awn.2	-	6	858	c.763G>A	c.(763-765)GGA>AGA	p.G255R	CASP9_uc001awm.1_Missense_Mutation_p.G255R|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G99R|CASP9_uc009voi.2_Missense_Mutation_p.G99R|CASP9_uc010obm.1_Missense_Mutation_p.G172R|CASP9_uc001awq.2_Missense_Mutation_p.G172R	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	255					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACAGGGCATCCATCTGTGCCG	0.552		NaN											0	0	0	0.028581	0	15	63				
PTPRF	5792	broad.mit.edu	37	1	44086513	44086513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:44086513G>A	uc001cjr.2	+	32	5709	c.5369G>A	c.(5368-5370)GGG>GAG	p.G1790E	PTPRF_uc001cjs.2_Missense_Mutation_p.G1781E|PTPRF_uc001cju.2_Missense_Mutation_p.G1179E|PTPRF_uc009vwt.2_Missense_Mutation_p.G1350E|PTPRF_uc001cjv.2_Missense_Mutation_p.G1261E|PTPRF_uc001cjw.2_Missense_Mutation_p.G1016E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1790	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCCAGGATGGGCAGTCAAGG	0.557		NaN											0	0	0	0.013537	0	12	36				
CYP4Z1	199974	broad.mit.edu	37	1	47548040	47548040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:47548040G>A	uc001cqu.1	+	4	402	c.399G>A	c.(397-399)TGG>TGA	p.W133*		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	133	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GTTCTAAATGGAAAAAGCACC	0.458		NaN											0	0	0	0.004482	0	7	41				
LRRC7	57554	broad.mit.edu	37	1	70504189	70504189	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:70504189C>T	uc001dep.2	+	19	2598	c.2568C>T	c.(2566-2568)ACC>ACT	p.T856T	LRRC7_uc009wbg.2_Silent_p.T140T|LRRC7_uc001deq.2_Silent_p.T97T	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	856						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AAGACAGGACCGCTTTTCCTT	0.463		NaN											0	0	0	0.016723	0	13	154				
GBP1	2633	broad.mit.edu	37	1	89523877	89523877	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:89523877G>C	uc001dmx.2	-	6	892	c.672C>G	c.(670-672)CTC>CTG	p.L224L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	224					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCGGATACAGAGTCTGGGCA	0.358		NaN											0	0	0	0.016522	0	22	395				
CELSR2	1952	broad.mit.edu	37	1	109793320	109793320	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:109793320G>C	uc001dxa.3	+	1	680	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	207	Cadherin 1.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGGGCCATCGACCCGGACGA	0.617		NaN											0	0	0	0.014758	0	5	59				
GPR89A	653519	broad.mit.edu	37	1	145771648	145771648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:145771648C>T	uc001eot.2	-	11	1166	c.992G>A	c.(991-993)GGA>GAA	p.G331E	NBPF10_uc001emp.3_Intron|GPR89A_uc001eop.2_Missense_Mutation_p.G29E|GPR89A_uc001eoq.2_RNA|GPR89A_uc001eor.2_Missense_Mutation_p.G255E|GPR89A_uc010ozb.1_Missense_Mutation_p.G306E|GPR89A_uc001eos.2_Missense_Mutation_p.G211E|GPR89A_uc010ozc.1_Missense_Mutation_p.G306E|GPR89A_uc010ozd.1_Missense_Mutation_p.G278E|GPR89A_uc010oze.1_Missense_Mutation_p.G331E	NM_001097612	NP_001091081	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A isoform 1	331					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAATTGGATTCCCAGATAATT	0.343		NaN											0	0	0	0.013537	0	9	105				
RFX5	5993	broad.mit.edu	37	1	151315450	151315450	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:151315450G>T	uc001exv.1	-	11	1277	c.1063C>A	c.(1063-1065)CTT>ATT	p.L355I	RFX5_uc001exw.1_Missense_Mutation_p.L355I|RFX5_uc009wmr.1_Missense_Mutation_p.L355I|RFX5_uc010pcx.1_Missense_Mutation_p.L315I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	355						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAAGAAAGCCTGGGGGCC	0.587		NaN											1	0	3.03607e-14	0.013537	3.38016e-14	13	60				
FLG	2312	broad.mit.edu	37	1	152282251	152282251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:152282251G>C	uc001ezu.1	-	3	5147	c.5111C>G	c.(5110-5112)TCT>TGT	p.S1704C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1704	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGACTACAGATGAATCTTG	0.572		NaN							Ichthyosis				0	0	0	0.013114	0	30	349				
NTRK1	4914	broad.mit.edu	37	1	156845927	156845927	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:156845927C>T	uc001fqh.1	+	13	1613	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G	NTRK1_uc001fqf.1_Silent_p.G483G|NTRK1_uc009wsi.1_Silent_p.G218G|NTRK1_uc001fqi.1_Silent_p.G513G|NTRK1_uc009wsk.1_Silent_p.G516G	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	519	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGGGGAGGGCGCCTTTGGGA	0.632		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.014758	0	5	69				
FCRL5	83416	broad.mit.edu	37	1	157514227	157514227	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:157514227C>T	uc001fqu.2	-	5	827	c.669G>A	c.(667-669)CCG>CCA	p.P223P	FCRL5_uc009wsm.2_Silent_p.P223P|FCRL5_uc010phv.1_Silent_p.P223P|FCRL5_uc010phw.1_Silent_p.P138P|FCRL5_uc001fqv.1_Silent_p.P223P|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	223	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGAACCGGAGCGGGACATCTG	0.567		NaN											0	0	0	0.008871	0	19	114				
OR10R2	343406	broad.mit.edu	37	1	158449927	158449927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:158449927C>G	uc010pik.1	+	1	260	c.260C>G	c.(259-261)TCA>TGA	p.S87*	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	87	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GGCATTCTCTCAACATCTGAG	0.433		NaN											0	0	0	0.024334	0	27	172				
RCOR3	55758	broad.mit.edu	37	1	211433478	211433478	+	Nonsense_Mutation	SNP	C	C	A	rs145681038	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:211433478C>A	uc001hig.2	+	1	190	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Nonsense_Mutation_p.Y65*|RCOR3_uc010psw.1_Nonsense_Mutation_p.Y65*|RCOR3_uc001hif.2_Nonsense_Mutation_p.Y65*	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	7	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GAGCCGAATACCAAGCTCGGA	0.353		NaN											1	0	9.39395e-14	0.00632	1.03893e-13	25	27				
OR2L3	391192	broad.mit.edu	37	1	248224518	248224518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248224518G>A	uc001idx.1	+	1	535	c.535G>A	c.(535-537)GAT>AAT	p.D179N	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTCTTCTGTGATGTCCCAGC	0.478		NaN											0	0	0	0.008361	0	30	135				
OR2T10	127069	broad.mit.edu	37	1	248756267	248756267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:248756267G>A	uc010pzn.1	-	1	803	c.803C>T	c.(802-804)CCT>CTT	p.P268L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTTCTCAGGAGTTTGGTA	0.438		NaN											0	0	0	0.008291	0	10	53				
ADARB2	105	broad.mit.edu	37	10	1405298	1405298	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:1405298G>A	uc009xhq.2	-	3	1376	c.1002C>T	c.(1000-1002)GCC>GCT	p.A334A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	334	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTGCAGTGCGGCCTGCGCGG	0.746		NaN											0	0	0	0.009096	0	3	9				
SVIL	6840	broad.mit.edu	37	10	29821479	29821479	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:29821479T>A	uc001iut.1	-	8	2570	c.1817A>T	c.(1816-1818)AAC>ATC	p.N606I	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.N606I	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	606					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCTGCAGGCGTTGGCAGATGC	0.577		NaN											0	0	0	0.00308	0	8	27				
ATRNL1	26033	broad.mit.edu	37	10	117228809	117228809	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:117228809C>T	uc001lcg.2	+	24	4010	c.3624C>T	c.(3622-3624)GTC>GTT	p.V1208V	ATRNL1_uc010qsm.1_Silent_p.V337V|ATRNL1_uc010qsn.1_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1208	Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGTGTACGTCAGCAACTTTT	0.294		NaN											0	0	0	0.004482	0	9	67				
LDHC	3948	broad.mit.edu	37	11	18460094	18460094	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:18460094G>C	uc001mon.3	+	6	724	c.612G>C	c.(610-612)GTG>GTC	p.V204V	LDHC_uc001mom.3_Silent_p.V204V|LDHC_uc009yhp.2_Silent_p.V204V|LDHC_uc001moo.3_Silent_p.V88V|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	204					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	GGAGTGGGGTGAATGTTGCTG	0.373		NaN											0	0	0	0.013537	0	12	74				
MUC15	143662	broad.mit.edu	37	11	26587103	26587103	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:26587103T>C	uc001mqx.2	-	2	569	c.303A>G	c.(301-303)AAA>AAG	p.K101K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.K128K|MUC15_uc001mqy.2_Silent_p.K128K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	101	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGATGTGGGTTTTAGACTGC	0.453		NaN											0	0	0	0.008871	0	20	89				
CKAP5	9793	broad.mit.edu	37	11	46786765	46786765	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:46786765C>T	uc001ndi.1	-	28	3563	c.3453G>A	c.(3451-3453)AAG>AAA	p.K1151K	CKAP5_uc009ylg.1_Silent_p.K1037K|CKAP5_uc001ndj.1_Silent_p.K1151K|CKAP5_uc001ndh.1_Silent_p.K80K|SNORD67_uc001ndk.2_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1151					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTTCATCCTCCTTTAAGCTGG	0.398		NaN											0	0	0	0.024334	0	27	81				
OMP	4975	broad.mit.edu	37	11	76814355	76814355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:76814355C>T	uc010rsk.1	+	1	470	c.470C>T	c.(469-471)TCC>TTC	p.S157F	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	157					sensory perception of smell|synaptic transmission						0						CTCAAGGCCTCCGTGGTTTTT	0.602		NaN											0	0	0	0.013537	0	11	76				
NOX4	50507	broad.mit.edu	37	11	89133385	89133385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:89133385G>A	uc001pct.2	-	10	1248	c.1009C>T	c.(1009-1011)CAG>TAG	p.Q337*	NOX4_uc009yvr.2_Nonsense_Mutation_p.Q312*|NOX4_uc001pcu.2_Nonsense_Mutation_p.Q263*|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Nonsense_Mutation_p.Q337*|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Nonsense_Mutation_p.Q171*|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Nonsense_Mutation_p.Q313*|NOX4_uc009yvq.2_Nonsense_Mutation_p.Q313*	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	337	FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGACTCACCTGACCAGGTCTT	0.373		NaN											0	0	0	0.006214	0	9	98				
DSCAML1	57453	broad.mit.edu	37	11	117303215	117303215	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:117303215C>T	uc001prh.1	-	30	5214	c.5212G>A	c.(5212-5214)GAC>AAC	p.D1738N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1678	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGCCTTGTCATCTCCTGGG	0.463		NaN											0	0	0	0.001984	0	7	72				
MFRP	83552	broad.mit.edu	37	11	119216184	119216184	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216184G>T	uc001pwj.2	-	5	747	c.587C>A	c.(586-588)TCT>TAT	p.S196Y	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S196Y	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AAAAAGGCAAGAGGCCACACT	0.582		NaN											1	0	3.59834e-05	0.021553	3.66416e-05	4	45				
MFRP	83552	broad.mit.edu	37	11	119216325	119216325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216325G>C	uc001pwj.2	-	5	606	c.446C>G	c.(445-447)TCT>TGT	p.S149C	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S149C	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCTTGGGCCAGAGAGGAGGCC	0.567		NaN											0	0	0	0.001984	0	7	29				
MFRP	83552	broad.mit.edu	37	11	119216543	119216543	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr11:119216543G>C	uc001pwj.2	-	4	527	c.367C>G	c.(367-369)CAG>GAG	p.Q123E	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q123E	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	44	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCAGCTGCCTGAGAggtggtg	0.552		NaN											0	0	0	0.008291	0	10	60				
VWF	7450	broad.mit.edu	37	12	6078422	6078422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078422G>A	uc001qnn.1	-	45	7934	c.7684C>T	c.(7684-7686)CAG>TAG	p.Q2562*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2562					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAGCTCAGCTGAAAGCCCGAG	0.592		NaN											0	0	0	0.001984	0	7	23				
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:6078430G>A	uc001qnn.1	-	45	7926	c.7676C>T	c.(7675-7677)TCG>TTG	p.S2559L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592		NaN											0	0	0	0.006214	0	9	25				
STRAP	11171	broad.mit.edu	37	12	16052918	16052918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:16052918G>A	uc001rdc.3	+	8	1210	c.856G>A	c.(856-858)GAT>AAT	p.D286N	STRAP_uc010shw.1_Missense_Mutation_p.D299N|STRAP_uc001rdd.3_Missense_Mutation_p.D192N	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	286	WD 7.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				TGGTTCAGAAGATGGAACATT	0.388		NaN											0	0	0	0.008871	0	18	82				
PRICKLE1	144165	broad.mit.edu	37	12	42853914	42853914	+	Nonsense_Mutation	SNP	G	G	T	rs137985321	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:42853914G>T	uc010skv.1	-	8	2480	c.2193C>A	c.(2191-2193)TAC>TAA	p.Y731*	PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.Y731*|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	731					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CGTACTGTCCGTAGAGATCAG	0.493		NaN											1	0	1.5739e-10	0.028581	1.70676e-10	17	83				
MLL2	8085	broad.mit.edu	37	12	49444391	49444391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49444391C>A	uc001rta.3	-	11	2980	c.2980G>T	c.(2980-2982)GAG>TAG	p.E994*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	994	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGACAGGCTCAGGGTCAGTG	0.622		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	5.9392e-07	0.021553	6.19904e-07	6	35		Valid		
MLL2	8085	broad.mit.edu	37	12	49445170	49445170	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:49445170C>T	uc001rta.3	-	10	2296	c.2296G>A	c.(2296-2298)GAG>AAG	p.E766K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	766	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTGGCTCCTCAGCCTGCGGA	0.697		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.014758	0	5	39		Valid		
ITGA7	3679	broad.mit.edu	37	12	56086673	56086673	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:56086673G>A	uc001shh.2	-	21	3031	c.2811C>T	c.(2809-2811)TCC>TCT	p.S937S	ITGA7_uc001shg.2_Silent_p.S933S|ITGA7_uc010sps.1_Silent_p.S840S|ITGA7_uc009znw.2_Silent_p.S180S|ITGA7_uc009znx.2_Silent_p.S814S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	977	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CTGGCCACCAGGACATGCTGG	0.642		NaN											0	0	0	0.009096	0	4	24				
TRHDE	29953	broad.mit.edu	37	12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:73046848G>A	uc001sxa.2	+	17	2791	c.2761G>A	c.(2761-2763)GAT>AAT	p.D921N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AGATGCAATTGATGTCATAAT	0.353		NaN											0	0	0	0.021553	0	6	59				
C12orf74	338809	broad.mit.edu	37	12	93100779	93100779	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93100779C>T	uc001tch.1	+	2	602	c.372C>T	c.(370-372)CCC>CCT	p.P124P	C12orf74_uc001tci.2_Silent_p.P124P	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	124											0						CACTGGAGCCCCAAACCCGGC	0.557		NaN											0	0	0	0.001984	0	6	79				
EEA1	8411	broad.mit.edu	37	12	93244925	93244925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr12:93244925C>T	uc001tck.2	-	9	1025	c.760G>A	c.(760-762)GAA>AAA	p.E254K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	254	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TTTTTGCATTCATCTTTGAGT	0.363		NaN											0	0	0	0.004482	0	8	48				
PAN3	255967	broad.mit.edu	37	13	28794473	28794473	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:28794473C>T	uc001urz.2	+	5	528	c.520C>T	c.(520-522)CAC>TAC	p.H174Y	PAN3_uc010tdo.1_Missense_Mutation_p.H320Y|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Missense_Mutation_p.H120Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	320	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTTTCTCTCACCCATCCAT	0.458		NaN											0	0	0	0.017118	0	33	147				
TRPC4	7223	broad.mit.edu	37	13	38213252	38213252	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:38213252G>T	uc001uws.2	-	10	2371	c.2136C>A	c.(2134-2136)AAC>AAA	p.N712K	TRPC4_uc010abv.2_Missense_Mutation_p.N292K|TRPC4_uc001uwt.2_Missense_Mutation_p.N712K|TRPC4_uc010tey.1_Missense_Mutation_p.N712K|TRPC4_uc010abw.2_Missense_Mutation_p.N539K|TRPC4_uc010abx.2_Missense_Mutation_p.N717K|TRPC4_uc010aby.2_Missense_Mutation_p.N647K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	712	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCTTCACCAGGTTCCTCATAA	0.398		NaN											1	0	2.94398e-08	0.007413	3.1315e-08	18	174				
SLITRK6	84189	broad.mit.edu	37	13	86368575	86368575	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:86368575T>C	uc001vll.1	-	2	2528	c.2069A>G	c.(2068-2070)TAT>TGT	p.Y690C	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	690	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACTTCTATAGACATGAAC	0.443		NaN											0	0	0	0.01441	0	50	255				
TPP2	7174	broad.mit.edu	37	13	103326727	103326727	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:103326727G>A	uc001vpi.3	+	27	3530	c.3427G>A	c.(3427-3429)GGA>AGA	p.G1143R		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1143					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCTCAAGACGGAGCCATTTC	0.473		NaN											0	0	0	0.028581	0	17	62				
LIG4	3981	broad.mit.edu	37	13	108860901	108860901	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr13:108860901C>T	uc001vqn.2	-	2	2989	c.2716G>A	c.(2716-2718)GAA>AAA	p.E906K	LIG4_uc001vqo.2_Missense_Mutation_p.E906K|LIG4_uc010agg.1_Missense_Mutation_p.E839K|LIG4_uc010agf.2_Missense_Mutation_p.E906K|LIG4_uc001vqp.2_Missense_Mutation_p.E906K	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	906	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACTGGTTTTCTTCTTGTAAT	0.333		NaN						NHEJ					0	0	0	0.010729	0	11	25				
CPNE6	9362	broad.mit.edu	37	14	24546221	24546221	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:24546221G>A	uc001wll.2	+	14	1398	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	CPNE6_uc010tnv.1_Silent_p.T488T|CPNE6_uc001wlm.2_Silent_p.T258T|CPNE6_uc001wln.2_Silent_p.T101T	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	433	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		GCCAAGCCACGGTAGGAAGAC	0.637		NaN											0	0	0	0.014758	0	5	12				
BMP4	652	broad.mit.edu	37	14	54417548	54417548	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr14:54417548G>A	uc001xal.3	-	3	616	c.429C>T	c.(427-429)AAC>AAT	p.N143N	BMP4_uc010aoh.2_Silent_p.N143N|BMP4_uc001xao.3_Silent_p.N143N|BMP4_uc001xan.3_Silent_p.N143N	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	143					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						TGCTGCTGAGGTTAAAGAGGA	0.527		NaN											0	0	0	0.00499	0	16	43				
CYFIP1	23191	broad.mit.edu	37	15	22929892	22929892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:22929892A>G	uc001yus.2	+	6	670	c.566A>G	c.(565-567)AAG>AGG	p.K189R	CYFIP1_uc001yut.2_Missense_Mutation_p.K189R|CYFIP1_uc010aya.1_Missense_Mutation_p.K217R	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	189					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCAGCGTACAAGAGGTGAGCA	0.567		NaN											0	0	0	0.006122	0	8	26				
MAP1A	4130	broad.mit.edu	37	15	43817292	43817292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:43817292G>C	uc001zrt.2	+	4	4088	c.3621G>C	c.(3619-3621)GAG>GAC	p.E1207D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1207						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCAAGGAGACCTCCCTGG	0.522		NaN											0	0	0	0.016723	0	13	84				
SECISBP2L	9728	broad.mit.edu	37	15	49329879	49329879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:49329879C>T	uc001zxe.1	-	2	246	c.112G>A	c.(112-114)GAT>AAT	p.D38N	SECISBP2L_uc001zxd.1_Missense_Mutation_p.D38N|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.D38N	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	38										breast(1)|skin(1)	2						CTTCCATTATCATTTGGGAGA	0.423		NaN											0	0	0	0.014758	0	5	32				
TRPM7	54822	broad.mit.edu	37	15	50866552	50866552	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:50866552T>A	uc001zyt.3	-	36	5491	c.5227A>T	c.(5227-5229)ACT>TCT	p.T1743S	TRPM7_uc001zyr.2_Missense_Mutation_p.T180S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1743	Cytoplasmic (Potential).|Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCCAGAGTATTAGTTGGA	0.358		NaN											0	0	0	0.001984	0	6	88				
LARP6	55323	broad.mit.edu	37	15	71125360	71125360	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:71125360C>G	uc002ass.2	-	3	578	c.507G>C	c.(505-507)AGG>AGC	p.R169S		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	169	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						CGGGGGTGGTCCTCCTCACCT	0.547		NaN											0	0	0	0.021553	0	6	42				
CRABP1	1381	broad.mit.edu	37	15	78640302	78640302	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr15:78640302A>G	uc002bdp.2	+	4	502	c.397A>G	c.(397-399)ATT>GTT	p.I133V		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	133	Retinoic acid binding (By similarity).				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	CTGCACCAGAATTTATGTCCG	0.493		NaN											0	0	0	0.010729	0	10	63				
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:3788618G>A	uc002cvv.2	-	26	4540	c.4336C>T	c.(4336-4338)CGC>TGC	p.R1446C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1408C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446H(3)|p.R1446L(2)|p.R1446C(2)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.021553	0	5	21		Valid		
ADCY9	115	broad.mit.edu	37	16	4016470	4016470	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:4016470G>A	uc002cvx.2	-	11	3907	c.3368C>T	c.(3367-3369)GCG>GTG	p.A1123V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1123	Guanylate cyclase 2.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CTGGGCCTGCGCGGTGTTCAG	0.602		NaN											0	0	0	0.004482	0	8	81				
EMP2	2013	broad.mit.edu	37	16	10631801	10631801	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:10631801G>A	uc002czx.2	-	4	494	c.300C>T	c.(298-300)ATC>ATT	p.I100I		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	100	Helical; (Potential).				cell proliferation	integral to membrane					0						TTAGCTGGATGATGGAGGTTA	0.542		NaN											0	0	0	0.012319	0	22	79				
ACSM5	54988	broad.mit.edu	37	16	20448621	20448621	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20448621G>T	uc002dhe.2	+	12	1615	c.1468G>T	c.(1468-1470)GCC>TCC	p.A490S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	490					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						AGTGGAAAGTGCCCTGGCAGA	0.567		NaN											1	0	0.00829132	0.008291	0.00834127	10	63				
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:51174110G>C	uc010vgs.1	-	2	2054	c.2023C>G	c.(2023-2025)CCT>GCT	p.P675A	SALL1_uc010vgr.1_Missense_Mutation_p.P578A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	675					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582		NaN											0	0	0	0.010729	0	11	80				
CX3CL1	6376	broad.mit.edu	37	16	57416922	57416922	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:57416922C>T	uc002eli.2	+	3	1239	c.1172C>T	c.(1171-1173)TCA>TTA	p.S391L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	391	Cytoplasmic (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GGTAGTAATTCATATGTCCTG	0.577		NaN											0	0	0	0.013537	0	11	84				
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:67679643G>C	uc002etn.2	+	3	269	c.149G>C	c.(148-150)AGA>ACA	p.R50T	RLTPR_uc010cel.1_Missense_Mutation_p.R50T|RLTPR_uc010vjr.1_Missense_Mutation_p.R50T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	50										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTACGATGGAGAGCCTACCTG	0.667		NaN											0	0	0	0.006214	0	10	77				
COG4	25839	broad.mit.edu	37	16	70516007	70516007	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:70516007C>G	uc002ezc.2	-	16	2003	c.1992G>C	c.(1990-1992)ATG>ATC	p.M664I	COG4_uc002eza.2_Missense_Mutation_p.M1I|COG4_uc002ezb.2_Missense_Mutation_p.M120I|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.M643I|COG4_uc002eze.2_Missense_Mutation_p.M358I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	660	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TGAACTCTGCCATTTGCTGCT	0.532		NaN											0	0	0	0.008291	0	10	55				
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:71054178T>C	uc002ezr.2	-	22	3357	c.3229A>G	c.(3229-3231)ATA>GTA	p.I1077V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1077										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418		NaN											0	0	0	0.001984	0	7	49				
TP53	7157	broad.mit.edu	37	17	7576886	7576886	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7576886C>T	uc002gim.2	-	9	1154	c.960G>A	c.(958-960)AAG>AAA	p.K320K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.K320K|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.K188K|TP53_uc010cng.1_Silent_p.K188K|TP53_uc002gii.1_Silent_p.K188K|TP53_uc010cnh.1_Silent_p.K320K|TP53_uc010cni.1_Silent_p.K320K|TP53_uc002gij.2_Silent_p.K320K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	320	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).	K->A: Loss of nuclear localization; when associated with A-319 and A-321.	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.K320N(3)|p.K320fs*26(2)|p.K320*(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K320K(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGTGGTTTCTTCTTTGGCT	0.458		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.021523	0	26	41				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7577099C>G	uc002gim.2	-	8	1033	c.839G>C	c.(838-840)AGA>ACA	p.R280T	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013537	0	13	25		Valid		
KDM6B	23135	broad.mit.edu	37	17	7751845	7751845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7751845C>G	uc002giw.1	+	11	2615	c.2239C>G	c.(2239-2241)CCT>GCT	p.P747A	KDM6B_uc002gix.2_Missense_Mutation_p.P49A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	747	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						CACTACTGCTCCTGCTGTCGC	0.408		NaN											0	0	0	0.021553	0	6	48				
CNTROB	116840	broad.mit.edu	37	17	7836462	7836462	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:7836462C>T	uc002gjq.2	+	2	984	c.65C>T	c.(64-66)TCA>TTA	p.S22L	TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.S22L|CNTROB_uc002gjr.2_5'Flank	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	22					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				AGTGATTCATCAGAACCCCCT	0.602		NaN											0	0	0	0.024245	0	14	145				
NCOR1	9611	broad.mit.edu	37	17	16089958	16089958	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:16089958C>T	uc002gpo.2	-	3	392	c.152G>A	c.(151-153)AGT>AAT	p.S51N	NCOR1_uc002gpn.2_Missense_Mutation_p.S51N|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.S51N|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.S51N|NCOR1_uc010cpa.1_Missense_Mutation_p.S51N|NCOR1_uc002gpu.2_Missense_Mutation_p.S51N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	51	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATGCCTGACTCACTTCAAG	0.413		NaN											0	0	0	0.004482	0	9	61		Valid		
ULK2	9706	broad.mit.edu	37	17	19685248	19685248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:19685248C>G	uc002gwm.3	-	23	3102	c.2593G>C	c.(2593-2595)GAG>CAG	p.E865Q	ULK2_uc002gwn.2_Missense_Mutation_p.E865Q	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	865					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCACACTCTCCTGGATCTGG	0.522		NaN											0	0	0	0.013537	0	13	102				
SEZ6	124925	broad.mit.edu	37	17	27308687	27308687	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:27308687C>T	uc002hdp.2	-	2	620	c.426G>A	c.(424-426)CCG>CCA	p.P142P	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.P142P|SEZ6_uc002hdq.1_Silent_p.P17P|SEZ6_uc010crz.1_Silent_p.P142P	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	142	Pro-rich.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACTCTGACTCCGGACTCCAGG	0.647		NaN											0	0	0	0.021553	0	5	36				
MYO1D	4642	broad.mit.edu	37	17	30986217	30986217	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:30986217C>T	uc002hho.1	-	17	2273	c.2261G>A	c.(2260-2262)CGA>CAA	p.R754Q	MYO1D_uc002hhp.1_Missense_Mutation_p.R754Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	754						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCCGTAGTCTCGCATGGTCTT	0.532		NaN									OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	29	94				
PPP1R1B	84152	broad.mit.edu	37	17	37790282	37790282	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:37790282G>C	uc002hrz.2	+	5	855	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	PPP1R1B_uc002hsa.2_Missense_Mutation_p.E141Q|PPP1R1B_uc010cvx.2_Missense_Mutation_p.E97Q|PPP1R1B_uc002hsb.2_Missense_Mutation_p.E94Q|PPP1R1B_uc002hsc.2_Missense_Mutation_p.E94Q	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	130	Asp/Glu-rich (acidic).				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ggatgatgaagaagaggaaga	0.423		NaN											0	0	0	0.020292	0	13	103				
KRT14	3861	broad.mit.edu	37	17	39740032	39740032	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:39740032C>T	uc002hxf.1	-	4	968	c.907G>A	c.(907-909)GAG>AAG	p.E303K	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.E303K	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	303	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				AACCATTCCTCGGCATCCTTG	0.542		NaN											0	0	0	0.024334	0	28	249				
CCR10	2826	broad.mit.edu	37	17	40831910	40831910	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr17:40831910C>A	uc002iax.3	-	2	754	c.750G>T	c.(748-750)GTG>GTT	p.V250V	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	250	Helical; Name=6; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCACCAGAGCCACCACGACGC	0.731		NaN											1	0	0.004672	0.004672	0.00472863	3	9				
PIP5K1C	23396	broad.mit.edu	37	19	3642935	3642935	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:3642935C>T	uc002lyj.1	-	14	1709	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q	PIP5K1C_uc010xhq.1_Missense_Mutation_p.R551Q|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R551Q	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	551					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTGTGCGCCGCCTGCAGAG	0.468		NaN											0	0	0	0.010729	0	11	80				
ANGPTL4	51129	broad.mit.edu	37	19	8429403	8429403	+	Silent	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:8429403G>C	uc002mjq.1	+	1	393	c.198G>C	c.(196-198)CTG>CTC	p.L66L	ANGPTL4_uc002mjr.1_Silent_p.L66L|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	66				LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088).	angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						GCAGTCAGCTGAGCGCGCTGG	0.716		NaN											0	0	0	0.004672	0	3	5				
MUC16	94025	broad.mit.edu	37	19	9087678	9087678	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:9087678C>T	uc002mkp.2	-	1	4341	c.4137G>A	c.(4135-4137)CCG>CCA	p.P1379P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1379	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTTTTGTGGCCGGACTGGTGA	0.458		NaN											0	0	0	0.021553	0	6	86				
USHBP1	83878	broad.mit.edu	37	19	17367354	17367354	+	Silent	SNP	G	G	A	rs141680124	byFrequency	TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:17367354G>A	uc002nfs.1	-	9	1509	c.1396C>T	c.(1396-1398)CTG>TTG	p.L466L	USHBP1_uc002nfr.1_Silent_p.L92L|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L402L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	466							PDZ domain binding			ovary(1)	1						TGGGTCCCCAGAATGGCCTGC	0.612		NaN											0	0	0	0.008871	0	21	85				
LRFN1	57622	broad.mit.edu	37	19	39805227	39805227	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:39805227G>A	uc002okw.2	-	1	750	c.750C>T	c.(748-750)GGC>GGT	p.G250G		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	250	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGGGTTGCCGCCGAAGCTGA	0.697		NaN											0	0	0	0.004672	0	3	10				
PRX	57716	broad.mit.edu	37	19	40902543	40902543	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:40902543C>T	uc002onr.2	-	7	1985	c.1716G>A	c.(1714-1716)GTG>GTA	p.V572V	PRX_uc002onq.2_Silent_p.V433V|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	572	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|22.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCAGCTGCACCTCTGGAA	0.552		NaN											0	0	0	0.016723	0	13	225				
AXL	558	broad.mit.edu	37	19	41745178	41745178	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:41745178G>C	uc010ehj.2	+	9	1434	c.1244G>C	c.(1243-1245)GGA>GCA	p.G415A	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.G415A|AXL_uc010ehk.2_Missense_Mutation_p.G415A	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	415	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCTGGGGATGGACCCTGGAGC	0.617		NaN											0	0	0	0.008871	0	19	55				
PSG9	5678	broad.mit.edu	37	19	43763021	43763021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:43763021G>A	uc002owd.3	-	4	1075	c.976C>T	c.(976-978)CTA>TTA	p.L326L	PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Silent_p.L233L|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	326	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AGGACATTTAGGATGACTGGG	0.507		NaN											0	0	0	0.008291	0	11	140				
STRN4	29888	broad.mit.edu	37	19	47236403	47236403	+	Silent	SNP	G	G	A	rs146403716		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:47236403G>A	uc002pfl.2	-	5	663	c.630C>T	c.(628-630)AAC>AAT	p.N210N	STRN4_uc002pfm.2_Silent_p.N210N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	210						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCACTGCCCCGTTGAGCTCCA	0.662		NaN											0	0	0	0.001984	0	7	34				
DHDH	27294	broad.mit.edu	37	19	49442919	49442919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:49442919C>G	uc002ple.1	+	4	620	c.580C>G	c.(580-582)CCA>GCA	p.P194A		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	194					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGGCAGAAGCCAGAGAAGAT	0.562		NaN											0	0	0	0.004482	0	7	102				
ZNF615	284370	broad.mit.edu	37	19	52497324	52497324	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:52497324C>T	uc002pye.1	-	6	1297	c.1005G>A	c.(1003-1005)CAG>CAA	p.Q335Q	ZNF615_uc002pyf.1_Silent_p.Q346Q|ZNF615_uc002pyg.1_Silent_p.Q227Q|ZNF615_uc002pyh.1_Silent_p.Q346Q|ZNF615_uc010epi.1_Silent_p.Q342Q|ZNF615_uc010ydg.1_Silent_p.Q340Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	335	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTTCTGATGTGTAG	0.423		NaN											0	0	0	0.009535	0	33	101				
SAPS1	22870	broad.mit.edu	37	19	55758399	55758399	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr19:55758399G>A	uc002qjw.3	-	2	315	c.73C>T	c.(73-75)CCC>TCC	p.P25S	SAPS1_uc002qjv.2_Missense_Mutation_p.P87S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	25	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGCAGCTCGGGCAGGCTCAGG	0.612		NaN											0	0	0	0.001984	0	7	101				
DYNC2LI1	51626	broad.mit.edu	37	2	44023913	44023913	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:44023913T>G	uc002rtk.2	+	8	729	c.633T>G	c.(631-633)CAT>CAG	p.H211Q	DYNC2LI1_uc002rtj.2_Missense_Mutation_p.H211Q|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.H212Q|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.H85Q	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	211						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGTTGCACATTATTATGGAG	0.353		NaN											0	0	0	0.00499	0	15	59				
SMYD5	10322	broad.mit.edu	37	2	73446021	73446021	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:73446021G>A	uc002siw.2	+	2	158	c.129G>A	c.(127-129)CGG>CGA	p.R43R	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	43							metal ion binding				0						AGCTCATCCGGAAGGGGGAGA	0.542		NaN											0	0	0	0.008291	0	10	42				
ST6GAL2	84620	broad.mit.edu	37	2	107446656	107446656	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:107446656A>C	uc002tdq.2	-	5	1303	c.1184T>G	c.(1183-1185)ATT>AGT	p.I395S	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I395S|ST6GAL2_uc002tds.3_Missense_Mutation_p.I395S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	395	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						ACGATGCTGAATATATGGAGT	0.368		NaN											0	0	0	0.008871	0	20	86				
RANBP2	5903	broad.mit.edu	37	2	109400167	109400167	+	Missense_Mutation	SNP	A	A	G	rs141352150		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:109400167A>G	uc002tem.3	+	29	9611	c.9485A>G	c.(9484-9486)AAT>AGT	p.N3162S		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3162	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCATGGCCAATCAAGGCCAG	0.368		NaN											0	0	0	0.010729	0	10	88				
PSD4	23550	broad.mit.edu	37	2	113940254	113940254	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:113940254A>G	uc002tjc.2	+	2	404	c.221A>G	c.(220-222)CAC>CGC	p.H74R	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.H73R|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	74					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GAGCTCACACACCTGGGGAGC	0.617		NaN											0	0	0	0.014758	0	5	41				
XIRP2	129446	broad.mit.edu	37	2	168101824	168101824	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:168101824G>A	uc002udx.2	+	8	3940	c.3922G>A	c.(3922-3924)GAT>AAT	p.D1308N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1133N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1086N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1133	Xin 22.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATACAGGGTGATGTAAAAAG	0.368		NaN											0	0	0	0.016723	0	14	73				
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:179542881G>A	uc010zfg.1	-	142	30457	c.30233C>T	c.(30232-30234)CCG>CTG	p.P10078L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6739L|TTN_uc010fre.1_Missense_Mutation_p.P735L|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTTTTCGGAACAGGTGT	0.358		NaN											0	0	0	0.004482	0	7	79				
CYP20A1	57404	broad.mit.edu	37	2	204144831	204144831	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:204144831C>A	uc002uzv.3	+	8	1467	c.845C>A	c.(844-846)GCA>GAA	p.A282E	CYP20A1_uc002uzx.3_Missense_Mutation_p.A180E|CYP20A1_uc010zif.1_Missense_Mutation_p.A290E|CYP20A1_uc002uzy.3_Missense_Mutation_p.A180E|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.A12E	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	282						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						ATAATAACTGCAAAATGTAAG	0.219		NaN											1	0	5.68852e-11	0.004482	6.24989e-11	8	20				
VIL1	7429	broad.mit.edu	37	2	219292748	219292748	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:219292748C>T	uc002via.2	+	5	473	c.408C>T	c.(406-408)GTC>GTT	p.V136V	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V136V|VIL1_uc002vic.1_Silent_p.V136V	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	136	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTATGACGTCCAGAGGCTGC	0.622		NaN											0	0	0	0.014323	0	19	146				
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:223096999G>A	uc010fwo.2	-	5	956	c.590C>T	c.(589-591)TCA>TTA	p.S197L	PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	197					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.328		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.006214	0	10	92				
KIAA1486	57624	broad.mit.edu	37	2	226447640	226447640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:226447640C>T	uc002voe.2	+	4	1682	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R273W	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	503										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GGGTGGCTCCCGGTCCCGGAC	0.687		NaN											0	0	0	0.001984	0	6	24				
COL6A3	1293	broad.mit.edu	37	2	238296565	238296565	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:238296565G>A	uc002vwl.2	-	4	1257	c.972C>T	c.(970-972)CTC>CTT	p.L324L	COL6A3_uc002vwo.2_Silent_p.L118L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.L118L|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L324L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	324	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATCAAGGGCGAGGCCGATAT	0.617		NaN											0	0	0	0.001984	0	7	41				
ASXL1	171023	broad.mit.edu	37	20	31021672	31021672	+	Silent	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:31021672C>G	uc002wxs.2	+	11	2097	c.1671C>G	c.(1669-1671)ACC>ACG	p.T557T	ASXL1_uc010geb.2_Silent_p.T448T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	557					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GTGTTCACACCGAAAAGCCAC	0.537		NaN	F|N|Mis		MDS|CMML								0	0	0	0.01892	0	24	128				
ARFGEF2	10564	broad.mit.edu	37	20	47639592	47639592	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr20:47639592G>T	uc002xtx.3	+	35	4781	c.4629G>T	c.(4627-4629)CAG>CAT	p.Q1543H	ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q836H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1543					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATAGATCAGAAACTGTTTG	0.318		NaN											1	0	3.07112e-06	0.010729	3.1659e-06	9	120				
DGCR8	54487	broad.mit.edu	37	22	20073753	20073753	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:20073753G>A	uc002zri.2	+	2	617	c.267G>A	c.(265-267)CCG>CCA	p.P89P	DGCR8_uc010grz.2_Silent_p.P89P|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	89	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TCATAGACCCGAACTGTAGTG	0.567		NaN											0	0	0	0.008291	0	9	66				
THOC5	8563	broad.mit.edu	37	22	29917075	29917075	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:29917075G>C	uc003afr.2	-	14	1524	c.1189C>G	c.(1189-1191)CCT>GCT	p.P397A	THOC5_uc003afq.2_Missense_Mutation_p.P58A|THOC5_uc003afs.2_Missense_Mutation_p.P397A|THOC5_uc003aft.2_Missense_Mutation_p.P397A|THOC5_uc003afu.2_Missense_Mutation_p.P397A|THOC5_uc010gvo.2_Missense_Mutation_p.P141A	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	397					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						ACTGAGTCAGGAGACAGCAAG	0.453		NaN											0	0	0	0.016522	0	23	114				
DEPDC5	9681	broad.mit.edu	37	22	32242867	32242867	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:32242867G>A	uc003als.2	+	31	3184	c.3042G>A	c.(3040-3042)ACG>ACA	p.T1014T	DEPDC5_uc011als.1_Silent_p.T945T|DEPDC5_uc011alu.1_Silent_p.T1023T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.T1014T|DEPDC5_uc003alu.2_Silent_p.T463T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.T344T|DEPDC5_uc003alw.2_Silent_p.T312T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Silent_p.T18T	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1014					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCATTTCCACGCATTCTCTGG	0.552		NaN											0	0	0	0.028581	0	16	53				
WBP2NL	164684	broad.mit.edu	37	22	42415340	42415340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr22:42415340G>A	uc011ape.1	+	3	104	c.88G>A	c.(88-90)GAG>AAG	p.E30K	WBP2NL_uc003bbt.2_Missense_Mutation_p.E30K|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_5'Flank	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	30					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						TCCGAATGTGGAGCTCTCCTT	0.413		NaN											0	0	0	0.00308	0	6	75				
RARB	5915	broad.mit.edu	37	3	25542729	25542729	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25542729G>C	uc011awl.1	+	3	450	c.384G>C	c.(382-384)AAG>AAC	p.K128N	RARB_uc003cdi.1_Missense_Mutation_p.K9N|RARB_uc003cdh.2_Missense_Mutation_p.K121N	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	128	Nuclear receptor.|NR C4-type.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCGAGATAAGAACTGTGTTA	0.393		NaN											0	0	0	0.006214	0	8	90				
OXSM	54995	broad.mit.edu	37	3	25835785	25835785	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25835785G>A	uc003cdn.2	+	3	1287	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K	OXSM_uc011awp.1_Missense_Mutation_p.E119K|OXSM_uc010hfh.2_Missense_Mutation_p.E311K	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	394					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						AGGGGCAGTCGAGGCAGCTTT	0.438		NaN											0	0	0	0.024245	0	16	88				
SLC6A20	54716	broad.mit.edu	37	3	45800507	45800507	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:45800507C>T	uc011bai.1	-	11	1866	c.1742G>A	c.(1741-1743)CGT>CAT	p.R581H	SLC6A20_uc003cow.2_Missense_Mutation_p.R231H|SLC6A20_uc011baj.1_Missense_Mutation_p.R544H	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	581	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTGAGGCGACGCTGAACAAA	0.602		NaN											0	0	0	0.013537	0	13	43				
MAP4	4134	broad.mit.edu	37	3	47908773	47908773	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:47908773G>A	uc003csb.2	-	15	3555	c.3029C>T	c.(3028-3030)TCC>TTC	p.S1010F	MAP4_uc003csc.3_Missense_Mutation_p.S1010F|MAP4_uc003crw.2_Missense_Mutation_p.S89F|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Missense_Mutation_p.S723F|MAP4_uc003cry.2_Missense_Mutation_p.S745F|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.S730F	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1010	Tau/MAP 2.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATTGTCCTTGGAACCACACTT	0.438		NaN											0	0	0	0.016723	0	13	92				
CELSR3	1951	broad.mit.edu	37	3	48694483	48694483	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:48694483G>A	uc003cul.2	-	2	4328	c.4047C>T	c.(4045-4047)TCC>TCT	p.S1349S	CELSR3_uc003cuf.1_Silent_p.S1419S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1349	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGCTCCTCGGAGCTGAACC	0.682		NaN											0	0	0	0.014758	0	5	40				
QARS	5859	broad.mit.edu	37	3	49136834	49136834	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49136834G>A	uc003cvx.2	-	17	1562	c.1557C>T	c.(1555-1557)CTC>CTT	p.L519L	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.L374L|QARS_uc003cvy.2_Silent_p.L374L|QARS_uc011bce.1_Silent_p.L508L	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	519					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCAGGGCCGTGAGTGTAAAGA	0.557		NaN											0	0	0	0.006214	0	10	70				
GPX1	2876	broad.mit.edu	37	3	49394857	49394857	+	Silent	SNP	G	G	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:49394857G>T	uc011bcl.1	-	3	656	c.576C>A	c.(574-576)ATC>ATA	p.I192I	GPX1_uc011bcm.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	glutathione peroxidase 1 isoform 1	192					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GCAGGGCTTCGATGTCAGGCT	0.617		NaN											1	0	2.7689e-08	0.001984	2.96414e-08	7	45				
FAM116A	201627	broad.mit.edu	37	3	57658153	57658153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:57658153G>A	uc003dja.2	-	2	321	c.250C>T	c.(250-252)CAG>TAG	p.Q84*		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	84										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTGGAATGCTGAGGATAAATT	0.204		NaN											0	0	0	0.004482	0	7	57				
MRPL3	11222	broad.mit.edu	37	3	131190094	131190094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:131190094T>C	uc003eoh.2	-	7	823	c.659A>G	c.(658-660)AAA>AGA	p.K220R	MRPL3_uc011blo.1_Missense_Mutation_p.K115R|MRPL3_uc011blp.1_Missense_Mutation_p.K247R	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	220					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						TCCCCATCTTTTCATGACACC	0.408		NaN											0	0	0	0.004482	0	9	83				
DGKG	1608	broad.mit.edu	37	3	186006620	186006620	+	Silent	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:186006620C>T	uc003fqa.2	-	6	960	c.423G>A	c.(421-423)GCG>GCA	p.A141A	DGKG_uc003fqb.2_Silent_p.A141A|DGKG_uc003fqc.2_Silent_p.A141A|DGKG_uc011brx.1_Silent_p.A141A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	141					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGGGGGGTCGCAGCCACTT	0.512		NaN											0	0	0	0.01441	0	47	180				
INPP4B	8821	broad.mit.edu	37	4	143044482	143044482	+	Silent	SNP	C	C	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr4:143044482C>A	uc003iix.3	-	21	2575	c.1980G>T	c.(1978-1980)GGG>GGT	p.G660G	INPP4B_uc003iiw.3_Silent_p.G660G|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.G475G|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.G531G	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	660					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GTACTATCAACCCCACTGTGT	0.363		NaN											1	0	3.09899e-07	0.004482	3.25491e-07	8	85				
DAB2	1601	broad.mit.edu	37	5	39377092	39377092	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:39377092A>G	uc003jlx.2	-	12	2328	c.1797T>C	c.(1795-1797)TTT>TTC	p.F599F	DAB2_uc003jlw.2_Silent_p.F578F	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	599					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAGGAGCTGGAAAAATATTGC	0.572		NaN									OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013537	0	11	151				
SLC27A6	28965	broad.mit.edu	37	5	128368806	128368806	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:128368806T>A	uc003kuy.2	+	11	2087	c.1691T>A	c.(1690-1692)ATG>AAG	p.M564K	SLC27A6_uc003kuz.2_Missense_Mutation_p.M564K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	564					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CAGGAAAAAATGGAAGCAACA	0.289		NaN											0	0	0	0.021553	0	6	22				
PCDHA8	56140	broad.mit.edu	37	5	140222221	140222221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222221G>A	uc003lhs.2	+	1	1315	c.1315G>A	c.(1315-1317)GCC>ACC	p.A439T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A439T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	439	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCCACCGCCAGCTTGTC	0.667		NaN											0	0	0	0.028581	0	17	108				
PCDHA8	56140	broad.mit.edu	37	5	140222946	140222946	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:140222946G>A	uc003lhs.2	+	1	2040	c.2040G>A	c.(2038-2040)TCG>TCA	p.S680S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S680S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	680	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCGTCATCGAGGCAGTCGG	0.627		NaN											0	0	0	0.010729	0	12	99				
NSD1	64324	broad.mit.edu	37	5	176665484	176665484	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr5:176665484G>C	uc003mfr.3	+	7	4306	c.4168G>C	c.(4168-4170)GAG>CAG	p.E1390Q	NSD1_uc003mft.3_Missense_Mutation_p.E1121Q|NSD1_uc003mfs.1_Missense_Mutation_p.E1287Q|NSD1_uc011dfx.1_Missense_Mutation_p.E1038Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1390					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTGAGTCTGAGGAATTGCT	0.507		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.01892	0	23	71		Valid		
RNF182	221687	broad.mit.edu	37	6	13977507	13977507	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:13977507G>C	uc003nbe.2	+	3	575	c.157G>C	c.(157-159)GAC>CAC	p.D53H	RNF182_uc003nbf.2_Missense_Mutation_p.D53H|RNF182_uc003nbg.2_Missense_Mutation_p.D53H	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	53	RING-type.					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAAGATCATAGACTTTGGGGA	0.463		NaN											0	0	0	0.008291	0	11	164				
ZNF311	282890	broad.mit.edu	37	6	28967310	28967310	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:28967310G>A	uc003nlu.2	-	5	777	c.264C>T	c.(262-264)CTC>CTT	p.L88L	ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CATCCTTATAGAGATGCCTTT	0.398		NaN											0	0	0	0.00308	0	7	88				
ELOVL5	60481	broad.mit.edu	37	6	53160459	53160459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:53160459C>G	uc003pbq.1	-	2	487	c.39G>C	c.(37-39)AAG>AAC	p.K13N	ELOVL5_uc003pbr.1_Missense_Mutation_p.K13N|ELOVL5_uc011dwx.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbs.1_Missense_Mutation_p.K13N|ELOVL5_uc003pbu.2_Missense_Mutation_p.K13N|ELOVL5_uc011dwy.1_RNA	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	13					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)					CTAGCAATGCCTTGAAATAGG	0.363		NaN											0	0	0	0.004672	0	3	11				
UBE2J1	51465	broad.mit.edu	37	6	90053459	90053459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:90053459C>T	uc010kcb.2	-	3	221	c.48G>A	c.(46-48)ATG>ATA	p.M16I	UBE2J1_uc003pnc.2_Missense_Mutation_p.M16I	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	16	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCGCTTCTTTCATTAAACGTT	0.299		NaN											0	0	0	0.009096	0	4	32				
AKD1	221264	broad.mit.edu	37	6	109867162	109867162	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:109867162C>G	uc003ptn.2	-	26	3210	c.3133G>C	c.(3133-3135)GAT>CAT	p.D1045H	AKD1_uc011eat.1_Missense_Mutation_p.D124H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1045					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTCTCAGAATCTTCCTCAAAT	0.358		NaN											0	0	0	0.00308	0	8	88				
PTPRK	5796	broad.mit.edu	37	6	128302401	128302401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:128302401C>T	uc003qbk.2	-	25	3935	c.3568G>A	c.(3568-3570)GAA>AAA	p.E1190K	PTPRK_uc003qbj.2_Missense_Mutation_p.E1191K|PTPRK_uc010kfc.2_Missense_Mutation_p.E1197K|PTPRK_uc011ebu.1_Missense_Mutation_p.E1213K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1190	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGCAGTCTTCAGCTTGTAGT	0.428		NaN											0	0	0	0.001984	0	5	25				
LAMA2	3908	broad.mit.edu	37	6	129475825	129475825	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:129475825A>G	uc003qbn.2	+	8	1308	c.1203A>G	c.(1201-1203)AAA>AAG	p.K401K	LAMA2_uc003qbo.2_Silent_p.K401K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	401	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGACCCAAAGGGGTAAAGT	0.333		NaN											0	0	0	0.014758	0	5	50				
HBS1L	10767	broad.mit.edu	37	6	135287557	135287557	+	Missense_Mutation	SNP	T	T	C	rs1139174		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr6:135287557T>C	uc003qez.2	-	17	2160	c.1953A>G	c.(1951-1953)ATA>ATG	p.I651M	HBS1L_uc003qey.2_Missense_Mutation_p.I487M|HBS1L_uc011ecy.1_Missense_Mutation_p.I375M|HBS1L_uc011ecz.1_Missense_Mutation_p.I487M|HBS1L_uc011eda.1_Missense_Mutation_p.I609M	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	651					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCTCAAGAGCTATTGGTCTTT	0.368		NaN											0	0	0	0.007291	0	27	85				
TRIL	9865	broad.mit.edu	37	7	28996417	28996417	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:28996417C>T	uc003szt.2	-	3	1613	c.1246G>A	c.(1246-1248)GAT>AAT	p.D416N	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	416	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GGCGAGGGATCCGCGCAGGAT	0.662		NaN											0	0	0	0.024245	0	15	42				
MAGI2	9863	broad.mit.edu	37	7	79082591	79082591	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:79082591G>A	uc003ugx.2	-	1	300	c.46C>T	c.(46-48)CAT>TAT	p.H16Y	MAGI2_uc003ugy.2_Missense_Mutation_p.H16Y|uc010lea.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	16						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACACTCTCATGGACTTTGCTA	0.592		NaN											0	0	0	0.024334	0	24	124				
AKAP9	10142	broad.mit.edu	37	7	91625086	91625086	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:91625086T>C	uc003ulg.2	+	7	1127	c.902T>C	c.(901-903)TTG>TCG	p.L301S	AKAP9_uc003uld.3_Missense_Mutation_p.L301S|AKAP9_uc003ule.2_Missense_Mutation_p.L313S|AKAP9_uc003ulf.2_Missense_Mutation_p.L301S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	313	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTAGTTTCTTGCAAGAGAAA	0.318		NaN	T	BRAF	papillary thyroid								0	0	0	0.00308	0	8	27				
ASB4	51666	broad.mit.edu	37	7	95125268	95125268	+	Missense_Mutation	SNP	G	G	A	rs141186023		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:95125268G>A	uc011kij.1	+	2	386	c.386G>A	c.(385-387)CGT>CAT	p.R129H	ASB4_uc003unx.2_Missense_Mutation_p.R129H	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	129	ANK 2.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCTGTGATCGTGGGGCAAAG	0.458		NaN											0	0	0	0.016723	0	14	64				
BCAP29	55973	broad.mit.edu	37	7	107253835	107253835	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr7:107253835G>A	uc003vej.2	+	7	987	c.648G>A	c.(646-648)TCG>TCA	p.S216S	BCAP29_uc011kly.1_Silent_p.S122S|BCAP29_uc011klz.1_Silent_p.S216S|BCAP29_uc011kma.1_Silent_p.S216S	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	216	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						AGAGACTTTCGAAAGAATATG	0.323		NaN											0	0	0	0.010729	0	10	38				
NCOA2	10499	broad.mit.edu	37	8	71126156	71126156	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr8:71126156G>A	uc003xyn.1	-	4	403	c.241C>T	c.(241-243)CGT>TGT	p.R81C		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	81	Basic motif.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGATCTGACGAATTTGCTTC	0.343		NaN	T	RUNXBP2	AML								0	0	0	0.006214	0	10	21				
RPS6	6194	broad.mit.edu	37	9	19376294	19376294	+	Silent	SNP	T	T	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:19376294T>C	uc003znv.1	-	6	789	c.747A>G	c.(745-747)AAA>AAG	p.K249K	RPS6_uc003znu.1_Silent_p.K218K	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	249					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AAAAATCTTATTTCTGACTGG	0.383		NaN											0	0	0	0.004482	0	8	76				
PGM5	5239	broad.mit.edu	37	9	71098912	71098912	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:71098912C>T	uc004agr.2	+	9	1656	c.1427C>T	c.(1426-1428)ACG>ATG	p.T476M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	476					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						GTGGCGAAGACGGATAGTTTT	0.502		NaN											0	0	0	0.00499	0	17	68				
SUSD3	203328	broad.mit.edu	37	9	95841805	95841805	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:95841805G>A	uc004atb.2	+	4	514	c.478G>A	c.(478-480)GCC>ACC	p.A160T	SUSD3_uc004atc.2_Missense_Mutation_p.A147T	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	160	Cytoplasmic (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						GACGGTGCAGGCCGCATACCT	0.612		NaN											0	0	0	0.016723	0	13	32				
SMC2	10592	broad.mit.edu	37	9	106900437	106900437	+	Silent	SNP	A	A	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:106900437A>G	uc004bbv.2	+	24	3696	c.3408A>G	c.(3406-3408)ACA>ACG	p.T1136T	SMC2_uc004bbw.2_Silent_p.T1136T|SMC2_uc011lvl.1_Silent_p.T1136T|SMC2_uc004bbx.2_Silent_p.T1136T|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1136					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						CTCATTTCACACATTCTCAGG	0.343		NaN											0	0	0	0.016522	0	22	39				
SNAPC4	6621	broad.mit.edu	37	9	139273423	139273423	+	Silent	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139273423G>A	uc004chh.2	-	21	2865	c.2856C>T	c.(2854-2856)CTC>CTT	p.L952L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	952	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGCCCAGAGAGCGGTACAT	0.657		NaN											0	0	0	0.014758	0	5	6				
MAMDC4	158056	broad.mit.edu	37	9	139752992	139752992	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139752992G>A	uc004cjs.2	+	22	2865	c.2815G>A	c.(2815-2817)GAG>AAG	p.E939K	MAMDC4_uc011mej.1_Missense_Mutation_p.E276K	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1018	Extracellular (Potential).|MAM 6.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGGCACAGAGGCAGGTAC	0.706		NaN											0	0	0	0.004672	0	3	12				
MAMDC4	158056	broad.mit.edu	37	9	139754441	139754441	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr9:139754441G>C	uc004cjs.2	+	26	3347	c.3297G>C	c.(3295-3297)CAG>CAC	p.Q1099H	MAMDC4_uc011mej.1_Missense_Mutation_p.Q436H	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1178	Cytoplasmic (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGGCTGCAGAAGAAGGGGA	0.632		NaN											0	0	0	0.014758	0	5	14				
ATP7A	538	broad.mit.edu	37	X	77275742	77275742	+	Silent	SNP	G	G	C	rs150976855		TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:77275742G>C	uc004ecx.3	+	13	2788	c.2628G>C	c.(2626-2628)GGG>GGC	p.G876G		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	876	Cytoplasmic (Potential).		G -> R (in MNKD).|G -> E (in MNKD).		ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TCCATACAGGGGAGGCAATGC	0.393		NaN											0	0	0	0.013537	0	10	46				
DIAPH2	1730	broad.mit.edu	37	X	96213049	96213049	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chrX:96213049C>T	uc004efu.3	+	16	2233	c.1837C>T	c.(1837-1839)CCT>TCT	p.P613S	DIAPH2_uc004eft.3_Missense_Mutation_p.P613S	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	613	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGGAGGAGTTCCTCCTCCCCC	0.478		NaN											0	0	0	0.024245	0	16	25				
DNAJC11	55735	broad.mit.edu	37	1	6696194	6696194	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:6696194A>G	uc001aof.2	-	15	1743	c.1637T>C	c.(1636-1638)CTC>CCC	p.L546P	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.L494P|DNAJC11_uc010nzu.1_Missense_Mutation_p.L456P	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	546					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTATCCGGAGGGCCTCACT	0.607		NaN											0	0	0	0.00308	0	8	38				
WASF2	10163	broad.mit.edu	37	1	27736473	27736473	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:27736473G>A	uc001bof.1	-	8	1268	c.1052C>T	c.(1051-1053)TCA>TTA	p.S351L	WASF2_uc010ofl.1_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	351					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGATGGGGGTGAGGGTGGTGG	0.637		NaN											0	0	0	0.020292	0	13	55				
PGM1	5236	broad.mit.edu	37	1	64117350	64117350	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:64117350G>A	uc001dbh.2	+	9	1504	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	PGM1_uc010ooy.1_Missense_Mutation_p.E234K|PGM1_uc010ooz.1_Missense_Mutation_p.E449K	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	431					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						GTATGATTACGAGGAGGTGGA	0.498		NaN											0	0	0	0.006214	0	10	20				
GBP6	163351	broad.mit.edu	37	1	89845982	89845982	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:89845982G>A	uc001dnf.2	+	6	937	c.663G>A	c.(661-663)AGG>AGA	p.R221R	GBP6_uc010ost.1_Silent_p.R91R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	221							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTTCCCAGGGAGTGCATCA	0.408		NaN											0	0	0	0.00308	0	7	74				
SLC6A17	388662	broad.mit.edu	37	1	110709723	110709723	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:110709723G>A	uc009wfq.2	+	2	633	c.172G>A	c.(172-174)GAG>AAG	p.E58K		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	58	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGGATGCAGAGGACCGGCC	0.612		NaN											0	0	0	0.014758	0	5	15				
BCAS2	10286	broad.mit.edu	37	1	115118216	115118216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:115118216G>T	uc001efa.2	-	4	467	c.414C>A	c.(412-414)TAC>TAA	p.Y138*	DENND2C_uc001eez.2_RNA	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	138	Potential.				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACTCATTGTATACTTTCC	0.274		NaN											1	0	1.56452e-12	0.007413	1.70444e-12	19	49				
PHGDH	26227	broad.mit.edu	37	1	120254678	120254678	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:120254678C>T	uc001ehz.2	+	1	260	c.33C>T	c.(31-33)ATC>ATT	p.I11I	PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Silent_p.I11I|PHGDH_uc009whn.2_Silent_p.I11I	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	11					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AAGTGCTCATCAGTGACAGCC	0.552		NaN											0	0	0	0.016723	0	13	53				
GON4L	54856	broad.mit.edu	37	1	155774915	155774915	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:155774915G>A	uc001flz.2	-	11	1567	c.1470C>T	c.(1468-1470)CTC>CTT	p.L490L	GON4L_uc001fly.1_Silent_p.L490L|GON4L_uc009wrh.1_Silent_p.L490L|GON4L_uc001fma.1_Silent_p.L490L|GON4L_uc001fmc.2_Silent_p.L490L|GON4L_uc001fmd.3_Silent_p.L490L|GON4L_uc009wri.2_Silent_p.L76L|GON4L_uc009wrj.1_Silent_p.L5L|GON4L_uc001fme.2_Silent_p.L318L|GON4L_uc001fmf.2_Silent_p.L184L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	490					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATGCAATGAGACTGTCAT	0.458		NaN											0	0	0	0.007291	0	28	56				
BTG2	7832	broad.mit.edu	37	1	203276391	203276391	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:203276391C>T	uc001gzq.2	+	2	373	c.302C>T	c.(301-303)ACC>ATC	p.T101I	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	101					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGCGAGCTGACCCTGTGGGTG	0.642		NaN											0	0	0	0.021553	0	6	43		Valid		
RGS7	6000	broad.mit.edu	37	1	241094020	241094020	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:241094020A>T	uc001hyv.2	-	6	712	c.382T>A	c.(382-384)TAT>AAT	p.Y128N	RGS7_uc010pyh.1_Missense_Mutation_p.Y102N|RGS7_uc010pyj.1_Missense_Mutation_p.Y44N|RGS7_uc001hyu.2_Missense_Mutation_p.Y128N|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.Y128N	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	128					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CACTGACCATAATCTGTGTTT	0.373		NaN											0	0	0	0.01441	0	131	96				
OR6F1	343169	broad.mit.edu	37	1	247875460	247875460	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:247875460A>G	uc001idj.1	-	1	598	c.598T>C	c.(598-600)TTT>CTT	p.F200L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCAATCACAAAGGCCACAAGC	0.537		NaN											0	0	0	0.007413	0	20	144				
OR2T1	26696	broad.mit.edu	37	1	248569879	248569879	+	Missense_Mutation	SNP	T	T	A	rs138350213		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:248569879T>A	uc010pzm.1	+	1	584	c.584T>A	c.(583-585)ATA>AAA	p.I195K		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	195	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGATTATAGCAGGTTCC	0.537		NaN											0	0	0	0.020292	0	15	139				
ARHGAP21	57584	broad.mit.edu	37	10	24873643	24873643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:24873643G>A	uc001isb.2	-	26	6062	c.5575C>T	c.(5575-5577)CGC>TGC	p.R1859C	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1858	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						GTACTGGTGCGTAGGCGTTCC	0.527		NaN											0	0	0	0.006122	0	18	74				
ARHGAP21	57584	broad.mit.edu	37	10	24873919	24873919	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:24873919C>G	uc001isb.2	-	26	5786	c.5299G>C	c.(5299-5301)GAT>CAT	p.D1767H	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1766	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TTTAACCGATCTGCTATTTTC	0.463		NaN											0	0	0	0.006122	0	19	86				
ZNF438	220929	broad.mit.edu	37	10	31137576	31137576	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:31137576C>T	uc010qdz.1	-	7	2193	c.1758G>A	c.(1756-1758)CTG>CTA	p.L586L	ZNF438_uc001ivn.2_Silent_p.L537L|ZNF438_uc010qdy.1_Silent_p.L576L|ZNF438_uc001ivo.3_Silent_p.L150L|ZNF438_uc009xlg.2_Silent_p.L586L|ZNF438_uc001ivp.3_Silent_p.L576L|ZNF438_uc010qea.1_Silent_p.L586L|ZNF438_uc010qeb.1_Silent_p.L586L|ZNF438_uc010qec.1_Silent_p.L150L	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	586	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478		NaN											0	0	0	0.008361	0	31	88				
LIPA	3988	broad.mit.edu	37	10	91007301	91007301	+	Missense_Mutation	SNP	C	C	T	rs145756015		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:91007301C>T	uc001kga.3	-	2	273	c.105G>A	c.(103-105)ATG>ATA	p.M35I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.M35I	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	35					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTACCACATTCATGTTTGTTT	0.438		NaN											0	0	0	0.014758	0	4	21				
CPXM2	119587	broad.mit.edu	37	10	125526589	125526589	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:125526589T>C	uc001lhk.1	-	10	1704	c.1379A>G	c.(1378-1380)AAC>AGC	p.N460S	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	460					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGCAGCGTGTTTAAATCAGG	0.527		NaN											0	0	0	0.016723	0	12	57				
EBF3	253738	broad.mit.edu	37	10	131640400	131640400	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:131640400G>A	uc001lki.1	-	13	1384	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	451					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGCTTGTGACGTCTCTGACAC	0.597		NaN											0	0	0	0.014323	0	23	73				
PAOX	196743	broad.mit.edu	37	10	135202547	135202547	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr10:135202547C>T	uc001lmv.2	+	5	1289	c.1209C>T	c.(1207-1209)CTC>CTT	p.L403L	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.L403L|PAOX_uc001lmy.2_Missense_Mutation_p.S319L|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	541					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TTCTGTGTCTCACCCAAGTGC	0.502		NaN											0	0	0	0.016723	0	13	210				
CCKBR	887	broad.mit.edu	37	11	6290930	6290930	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:6290930C>T	uc001mcp.2	+	2	376	c.183C>T	c.(181-183)TAC>TAT	p.Y61Y	CCKBR_uc001mcq.2_Translation_Start_Site|CCKBR_uc001mcr.2_Silent_p.Y61Y|CCKBR_uc001mcs.2_Silent_p.Y61Y	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	61	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCACTCTTTACGCAGTGATCT	0.532		NaN											0	0	0	0.028581	0	17	64				
CD6	923	broad.mit.edu	37	11	60781397	60781397	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:60781397C>T	uc001nqq.2	+	8	1521	c.1298C>T	c.(1297-1299)CCC>CTC	p.P433L	CD6_uc001nqp.2_Missense_Mutation_p.P433L|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.P433L	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	433	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCAGCCCTCCCCGTAATGGTG	0.557		NaN											0	0	0	0.021553	0	6	29				
OMP	4975	broad.mit.edu	37	11	76814045	76814045	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr11:76814045C>T	uc010rsk.1	+	1	160	c.160C>T	c.(160-162)CGC>TGC	p.R54C	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	54					sensory perception of smell|synaptic transmission						0						GTCTGTGTACCGCCTCAACTT	0.637		NaN											0	0	0	0.021553	0	6	30				
IQSEC3	440073	broad.mit.edu	37	12	266745	266745	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:266745C>T	uc001qhw.1	+	4	1425	c.1419C>T	c.(1417-1419)CCC>CCT	p.P473P	IQSEC3_uc001qhu.1_Silent_p.P473P	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	776	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCACAACCCCGACACCATCT	0.602		NaN											0	0	0	0.014758	0	5	84				
GUCY2C	2984	broad.mit.edu	37	12	14767865	14767865	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:14767865C>T	uc001rcd.2	-	26	3120	c.2983G>A	c.(2983-2985)GAG>AAG	p.E995K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	995	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TAGGTAGTCTCATTTCCTCTT	0.483		NaN											0	0	0	0.009096	0	4	21				
ANKS1B	56899	broad.mit.edu	37	12	100200436	100200436	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:100200436C>T	uc001tge.1	-	4	832	c.415G>A	c.(415-417)GGA>AGA	p.G139R	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G139R	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	139	ANK 4.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGAGTGTCCATATTGAGCT	0.398		NaN											0	0	0	0.008291	0	11	35				
ZCCHC8	55596	broad.mit.edu	37	12	122958344	122958344	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr12:122958344C>G	uc001ucn.2	-	14	1955	c.1824G>C	c.(1822-1824)CAG>CAC	p.Q608H	ZCCHC8_uc001ucl.2_Missense_Mutation_p.Q219H|ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q370H|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q370H	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	608						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTTTTTCCTTCTGACAAAGTG	0.493		NaN											0	0	0	0.01441	0	52	147				
FGF14	2259	broad.mit.edu	37	13	102527614	102527614	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr13:102527614A>G	uc001vpe.2	-	2	226	c.226T>C	c.(226-228)TAT>CAT	p.Y76H	FGF14_uc001vpf.2_Missense_Mutation_p.Y81H	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	76					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCCTGCAATATAACCTGGTC	0.448		NaN											0	0	0	0.016723	0	12	45				
MBIP	51562	broad.mit.edu	37	14	36789701	36789701	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:36789701C>T	uc001wtm.2	-	1	182	c.94G>A	c.(94-96)GAA>AAA	p.E32K	MBIP_uc001wto.2_Missense_Mutation_p.E32K|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.E32K	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	32					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		CGAAAGATTTCGTAGAGCACC	0.567		NaN											0	0	0	0.004482	0	9	30				
SFTA3	253970	broad.mit.edu	37	14	36946212	36946212	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:36946212C>T	uc001wtr.2	-	3	857	c.225G>A	c.(223-225)ACG>ACA	p.T75T	SFTA3_uc001wtq.2_RNA|SFTA3_uc001wts.2_RNA	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	surfactant associated 3	75											0						GTGACAGCGTCGTGGGATGCA	0.532		NaN											0	0	0	0.006214	0	8	111				
DAAM1	23002	broad.mit.edu	37	14	59798179	59798179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr14:59798179C>T	uc001xdz.1	+	14	1938	c.1813C>T	c.(1813-1815)CAG>TAG	p.Q605*	DAAM1_uc001xea.1_Nonsense_Mutation_p.Q605*	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	605	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAGCATTCCTCAGCCCACAAA	0.453		NaN											0	0	0	0.01892	0	25	81				
CHD9	80205	broad.mit.edu	37	16	53348844	53348844	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr16:53348844A>G	uc002ehb.2	+	35	7636	c.7472A>G	c.(7471-7473)AAT>AGT	p.N2491S	CHD9_uc002egy.2_Missense_Mutation_p.N2475S|CHD9_uc002ehc.2_Missense_Mutation_p.N2476S|CHD9_uc002ehf.2_Missense_Mutation_p.N1589S|CHD9_uc010cbw.2_Missense_Mutation_p.N557S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2491					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CCAGTTATTAATCTTAAAGAT	0.428		NaN											0	0	0	0.006122	0	19	54				
SLC13A5	284111	broad.mit.edu	37	17	6606437	6606437	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:6606437C>T	uc002gdj.2	-	5	656	c.568G>A	c.(568-570)GGC>AGC	p.G190S	SLC13A5_uc010vtf.1_Missense_Mutation_p.G190S|SLC13A5_uc010clq.2_Missense_Mutation_p.G147S|SLC13A5_uc002gdk.2_Missense_Mutation_p.G173S|SLC13A5_uc002gdl.1_Missense_Mutation_p.G172S	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	190						integral to membrane	citrate transmembrane transporter activity				0						AGAGTGGGGCCTTCAAAAATC	0.627		NaN											0	0	0	0.014758	0	5	56				
ACAP1	9744	broad.mit.edu	37	17	7253548	7253548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:7253548C>G	uc002ggd.2	+	20	2270	c.2064C>G	c.(2062-2064)ATC>ATG	p.I688M	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	688	Required for interaction with GULP1.|ANK 3.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						ACGCTGACATCGTCACCCTGT	0.672		NaN											0	0	0	0.016723	0	14	37				
MYO18A	399687	broad.mit.edu	37	17	27447754	27447754	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:27447754G>A	uc002hdt.1	-	7	1766	c.1608C>T	c.(1606-1608)TAC>TAT	p.Y536Y	MYO18A_uc010wbc.1_Silent_p.Y78Y|MYO18A_uc002hds.2_Silent_p.Y78Y|MYO18A_uc010csa.1_Silent_p.Y536Y|MYO18A_uc002hdu.1_Silent_p.Y536Y|MYO18A_uc010wbd.1_Silent_p.Y205Y	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	536	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGGAGGGTGTACAGAGCCT	0.577		NaN											0	0	0	0.010729	0	9	59				
ABCC3	8714	broad.mit.edu	37	17	48755296	48755296	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:48755296C>T	uc002isl.2	+	24	3650	c.3570C>T	c.(3568-3570)ATC>ATT	p.I1190I	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1190	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTACATCATCTCCAACCGGT	0.577		NaN											0	0	0	0.008871	0	21	149				
INSR	3643	broad.mit.edu	37	19	7117211	7117211	+	Silent	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:7117211A>G	uc002mgd.1	-	22	4114	c.4005T>C	c.(4003-4005)TGT>TGC	p.C1335C	INSR_uc002mge.1_Silent_p.C1323C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1335	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTCCCTCTGACAGTGCGAGG	0.597		NaN											0	0	0	0.027356	0	29	56				
FBN3	84467	broad.mit.edu	37	19	8188893	8188893	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:8188893C>G	uc002mjf.2	-	22	2753	c.2732_splice	c.e22-1	p.D911_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AATCTCACATCTGCACGGGGG	0.617		NaN											0	0	0	0.004482	0	9	15				
CLIP3	25999	broad.mit.edu	37	19	36508845	36508845	+	Missense_Mutation	SNP	C	C	T	rs149100841		TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:36508845C>T	uc010eeq.1	-	9	1514	c.1232G>A	c.(1231-1233)CGT>CAT	p.R411H	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R411H	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	411					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCCCGTCACGCTGCTGCAA	0.612		NaN											0	0	0	0.020292	0	14	49				
ATP1A3	478	broad.mit.edu	37	19	42486133	42486133	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:42486133C>A	uc002osg.2	-	9	1273	c.1119G>T	c.(1117-1119)CAG>CAT	p.Q373H	ATP1A3_uc010xwf.1_Missense_Mutation_p.Q384H|ATP1A3_uc010xwg.1_Missense_Mutation_p.Q343H|ATP1A3_uc010xwh.1_Missense_Mutation_p.Q386H|ATP1A3_uc002osh.2_Missense_Mutation_p.Q373H	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	373	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TCATGCGGTTCTGAGTGAGGG	0.468		NaN											1	0	0.000442599	0.006214	0.000456218	8	177				
C19orf41	126123	broad.mit.edu	37	19	50666025	50666025	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:50666025G>A	uc002prp.1	-	2	365	c.278C>T	c.(277-279)ACG>ATG	p.T93M		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	93	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		TAAGTGCTGCGTTTGGTTCTT	0.567		NaN											0	0	0	0.010729	0	10	48				
SHANK1	50944	broad.mit.edu	37	19	51165497	51165497	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:51165497C>T	uc002psx.1	-	23	6230	c.6211G>A	c.(6211-6213)GGG>AGG	p.G2071R	SHANK1_uc002psw.1_Missense_Mutation_p.G1455R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2071					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCGAGGCCCCTGACAAGGCT	0.692		NaN											0	0	0	0.004672	0	3	28				
BRSK1	84446	broad.mit.edu	37	19	55816954	55816954	+	Silent	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr19:55816954G>C	uc002qkg.2	+	16	2167	c.1890G>C	c.(1888-1890)TCG>TCC	p.S630S	BRSK1_uc002qkf.2_Silent_p.S646S|BRSK1_uc002qkh.2_Silent_p.S325S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTTTCTGTCGGTGAGGGGCC	0.557		NaN											0	0	0	0.01441	0	55	162				
ROCK2	9475	broad.mit.edu	37	2	11367412	11367412	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:11367412G>A	uc002rbd.1	-	6	1285	c.836C>T	c.(835-837)TCT>TTT	p.S279F		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	279	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACACCTACAGACCACCAATC	0.363		NaN											0	0	0	0.01441	0	53	113				
ADD2	119	broad.mit.edu	37	2	70903954	70903954	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:70903954C>T	uc002sgz.2	-	13	2032	c.1567G>A	c.(1567-1569)GTC>ATC	p.V523I	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V523I|ADD2_uc002sha.2_Missense_Mutation_p.V217I|ADD2_uc002sgx.2_Missense_Mutation_p.V523I|ADD2_uc010fdt.1_Missense_Mutation_p.V523I|ADD2_uc002shc.1_Missense_Mutation_p.V523I|ADD2_uc002shd.1_Missense_Mutation_p.V217I|ADD2_uc010fdu.1_Missense_Mutation_p.V539I	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	523					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCGGCAATGACGCTCGCCAGG	0.602		NaN											0	0	0	0.013537	0	12	53				
RGPD4	285190	broad.mit.edu	37	2	108488251	108488251	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:108488251G>A	uc010ywk.1	+	20	3873	c.3791G>A	c.(3790-3792)AGT>AAT	p.S1264N	RGPD4_uc002tdu.2_Missense_Mutation_p.S451N|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1264					intracellular transport		binding			skin(2)	2						GATAGTGTCAGTAGTAGCTCA	0.403		NaN											0	0	0	0.01441	0	122	253				
INHBB	3625	broad.mit.edu	37	2	121107201	121107201	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:121107201C>T	uc002tmn.2	+	2	1021	c.975C>T	c.(973-975)ACC>ACT	p.T325T		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	325					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				TAGCACCCACCGGCTACTACG	0.617		NaN											0	0	0	0.024334	0	26	74				
XIRP2	129446	broad.mit.edu	37	2	168107280	168107280	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:168107280A>G	uc002udx.2	+	8	9396	c.9378A>G	c.(9376-9378)ATA>ATG	p.I3126M	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2951M|XIRP2_uc010fpq.2_Missense_Mutation_p.I2904M|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2951					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTATCACAATAGAATCTACTG	0.443		NaN											0	0	0	0.00499	0	18	86				
LRP2	4036	broad.mit.edu	37	2	170011072	170011072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:170011072G>A	uc002ues.2	-	66	12406	c.12193C>T	c.(12193-12195)CGA>TGA	p.R4065*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4065	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTATATTTTCGAATTCGGACA	0.378		NaN											0	0	0	0.027356	0	29	58				
TTN	7273	broad.mit.edu	37	2	179532370	179532370	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:179532370G>A	uc010zfk.1	-	6	694	c.146C>T	c.(145-147)GCA>GTA	p.A49V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11243							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACCTTTTGCTAGTTTGGG	0.294		NaN											0	0	0	0.010504	0	18	104				
TTN	7273	broad.mit.edu	37	2	179640412	179640412	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:179640412G>A	uc010zfg.1	-	28	6403	c.6179C>T	c.(6178-6180)ACG>ATG	p.T2060M	TTN_uc010zfh.1_Missense_Mutation_p.T2014M|TTN_uc010zfi.1_Missense_Mutation_p.T2014M|TTN_uc010zfj.1_Missense_Mutation_p.T2014M|TTN_uc002unb.2_Missense_Mutation_p.T2060M|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2060							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGAATCGTGATTTTGCC	0.423		NaN											0	0	0	0.028581	0	17	110				
DNER	92737	broad.mit.edu	37	2	230450646	230450646	+	Missense_Mutation	SNP	T	T	A	rs72987941	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:230450646T>A	uc002vpv.2	-	4	922	c.775A>T	c.(775-777)ACC>TCC	p.T259S	DNER_uc010zly.1_5'UTR	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	259	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.T259P(1)		lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAAGGGGGGTCACACTTCGT	0.517		NaN											0	0	0	0.009096	0	4	59				
UGT1A10	54575	broad.mit.edu	37	2	234545237	234545237	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr2:234545237C>T	uc002vur.2	+	1	115	c.69C>T	c.(67-69)GCC>GCT	p.A23A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.A23A	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1).	flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTGGCTTTGCCGAGGCAGGGA	0.597		NaN											0	0	0	0.021523	0	26	89				
MYH7B	57644	broad.mit.edu	37	20	33572681	33572681	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr20:33572681G>C	uc002xbi.1	+	10	891	c.799G>C	c.(799-801)GAG>CAG	p.E267Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	225	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAAATCATCGAGGCCAACCC	0.647		NaN											0	0	0	0.028581	0	15	50				
COL6A2	1292	broad.mit.edu	37	21	47531966	47531966	+	Silent	SNP	G	G	C	rs143583433	by1000genomes	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr21:47531966G>C	uc002zia.1	+	3	271	c.189G>C	c.(187-189)ACG>ACC	p.T63T	COL6A2_uc002zhy.1_Silent_p.T63T|COL6A2_uc002zhz.1_Silent_p.T63T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	63	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCCCCCACGGACATCCTGC	0.612		NaN											0	0	0	0.01892	0	25	55				
BCL2L13	23786	broad.mit.edu	37	22	18210180	18210180	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:18210180C>T	uc002zmw.2	+	7	1556	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	BCL2L13_uc002zmx.2_Silent_p.A284A|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.A284A|BCL2L13_uc011agk.1_Silent_p.A322A|BCL2L13_uc010gqz.2_Silent_p.A166A|BCL2L13_uc002zmz.2_Silent_p.A284A|BCL2L13_uc002zna.2_Silent_p.A166A	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	446	B; approximate.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TGTCCCCCGCCGGTGAGATGA	0.612		NaN											0	0	0	0.012319	0	23	79				
EFCAB6	64800	broad.mit.edu	37	22	43930620	43930620	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:43930620G>C	uc003bdy.1	-	30	4396	c.4181C>G	c.(4180-4182)GCA>GGA	p.A1394G	EFCAB6_uc003bdz.1_Missense_Mutation_p.A1242G|EFCAB6_uc010gzi.1_Missense_Mutation_p.A1242G	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1394	EF-hand 15.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTTCCTTTGCTTTTAGCAG	0.473		NaN											0	0	0	0.009096	0	4	53				
CELSR1	9620	broad.mit.edu	37	22	46859620	46859620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:46859620G>T	uc003bhw.1	-	2	4167	c.4167C>A	c.(4165-4167)TGC>TGA	p.C1389*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1389	Extracellular (Potential).|EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTCCTCGAAGCACTCGCAGG	0.647		NaN											1	0	0.000602214	0.014758	0.000616006	5	10				
CELSR1	9620	broad.mit.edu	37	22	46859881	46859881	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:46859881G>A	uc003bhw.1	-	2	3906	c.3906C>T	c.(3904-3906)TTC>TTT	p.F1302F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1302	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGTCGTCGAAGGGCAGCA	0.637		NaN											0	0	0	0.006214	0	10	36				
RTP3	83597	broad.mit.edu	37	3	46542025	46542025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:46542025C>G	uc003cps.1	+	2	403	c.335C>G	c.(334-336)TCA>TGA	p.S112*		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	112	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GAGAACATCTCAAGGATCCTG	0.458		NaN											0	0	0	0.021022	0	39	87				
DOCK3	1795	broad.mit.edu	37	3	51266209	51266209	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:51266209A>T	uc011bds.1	+	18	1788	c.1765A>T	c.(1765-1767)AAA>TAA	p.K589*		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	589	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGCAGCACCAAAGAGTCTTT	0.517		NaN											0	0	0	0.020292	0	14	43				
PARP14	54625	broad.mit.edu	37	3	122419588	122419588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:122419588C>G	uc003efq.3	+	6	2246	c.2187C>G	c.(2185-2187)GAC>GAG	p.D729E	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.D446E|PARP14_uc003efs.1_Missense_Mutation_p.D446E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AGGCAGTGGACATTGTCAAGC	0.408		NaN											0	0	0	0.004672	0	3	22				
MCM2	4171	broad.mit.edu	37	3	127325534	127325534	+	Silent	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:127325534C>G	uc003ejp.2	+	6	1032	c.975C>G	c.(973-975)GTC>GTG	p.V325V	MCM2_uc011bkm.1_Silent_p.V195V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.V209V	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	325					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						TCAGCATGGTCAAGTACAACT	0.612		NaN											0	0	0	0.01892	0	26	79				
CLSTN2	64084	broad.mit.edu	37	3	140140011	140140011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:140140011C>T	uc003etn.2	+	5	872	c.682C>T	c.(682-684)CAG>TAG	p.Q228*	CLSTN2_uc003etm.2_Nonsense_Mutation_p.Q228*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	228	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAAACAACACCAGTATGAGAT	0.502		NaN								HNSCC(16;0.037)			0	0	0	0.012213	0	34	97				
CLSTN2	64084	broad.mit.edu	37	3	140282913	140282913	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:140282913G>A	uc003etn.2	+	16	2783	c.2593G>A	c.(2593-2595)GAG>AAG	p.E865K		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	865	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CTTCATCCAGGAGACTGAGGC	0.562		NaN								HNSCC(16;0.037)			0	0	0	0.027356	0	27	125				
FAM131A	131408	broad.mit.edu	37	3	184062488	184062488	+	Silent	SNP	C	C	T	rs150189351	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:184062488C>T	uc003fog.2	+	3	2102	c.738C>T	c.(736-738)GGC>GGT	p.G246G	FAM131A_uc003fob.1_Silent_p.G154G|FAM131A_uc003foc.2_Silent_p.G192G|FAM131A_uc003foe.2_Silent_p.G192G	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	246						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTGCTGGGCGATGAGCTGC	0.667		NaN											0	0	0	0.006214	0	9	100				
ATP13A4	84239	broad.mit.edu	37	3	193130158	193130158	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:193130158G>A	uc003ftd.2	-	27	3125	c.3017C>T	c.(3016-3018)GCC>GTC	p.A1006V	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1006	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACTGTGCAGGCACTAAAAGG	0.398		NaN											0	0	0	0.023175	0	39	124				
UBA6	55236	broad.mit.edu	37	4	68514897	68514897	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:68514897G>A	uc003hdg.3	-	14	1189	c.1137C>T	c.(1135-1137)CTC>CTT	p.L379L	UBA6_uc003hdh.1_5'UTR	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	379					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						CAGTCCAAGAGAGCCAATGCA	0.393		NaN											0	0	0	0.020292	0	13	65				
HSD17B13	345275	broad.mit.edu	37	4	88226451	88226451	+	Silent	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:88226451A>T	uc003hqo.2	-	7	885	c.822T>A	c.(820-822)CCT>CCA	p.P274P	HSD17B13_uc010ikk.2_Silent_p.P238P	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	274						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AGGCGCGTTCAGGAAGAAACC	0.333		NaN											0	0	0	0.00308	0	8	24				
FAT4	79633	broad.mit.edu	37	4	126238269	126238269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:126238269C>T	uc003ifj.3	+	1	703	c.703C>T	c.(703-705)CAG>TAG	p.Q235*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	235	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGGCTACCTTCAGGTAAACGT	0.597		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	12	36				
FAT4	79633	broad.mit.edu	37	4	126239451	126239451	+	Silent	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:126239451C>A	uc003ifj.3	+	1	1885	c.1885C>A	c.(1885-1887)CGG>AGG	p.R629R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	629	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAGACTGACCGGAGGTCCTT	0.557		NaN											1	0	1.67942e-08	0.006122	1.78605e-08	18	51				
ELF2	1998	broad.mit.edu	37	4	139980487	139980487	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:139980487G>C	uc003ihp.1	-	9	1602	c.1396C>G	c.(1396-1398)CTG>GTG	p.L466V	ELF2_uc003ihm.1_Missense_Mutation_p.L418V|ELF2_uc003ihn.1_Missense_Mutation_p.L406V|ELF2_uc003iho.1_Missense_Mutation_p.L389V|ELF2_uc011chc.1_Missense_Mutation_p.L281V	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	478					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					GATCCAGTCAGATTTGACTTT	0.443		NaN											0	0	0	0.00499	0	18	72				
DDX60L	91351	broad.mit.edu	37	4	169344916	169344916	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr4:169344916G>A	uc003irq.3	-	15	2161	c.1940C>T	c.(1939-1941)TCG>TTG	p.S647L	DDX60L_uc003irr.1_Missense_Mutation_p.S647L|DDX60L_uc003irs.1_Missense_Mutation_p.S374L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	647							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAAATCTTTCGAAATTTTGCC	0.308		NaN											0	0	0	0.004672	0	3	9				
EMB	133418	broad.mit.edu	37	5	49699204	49699204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:49699204C>T	uc003jom.2	-	6	934	c.685G>A	c.(685-687)GAG>AAG	p.E229K	EMB_uc010ivq.2_Missense_Mutation_p.E23K|EMB_uc003jol.2_Missense_Mutation_p.E160K|EMB_uc011cpy.1_Missense_Mutation_p.E179K|EMB_uc010ivr.2_Missense_Mutation_p.E175K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	229	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATCTTCCTCCAAAAGTTGT	0.418		NaN											0	0	0	0.016723	0	13	57				
IL31RA	133396	broad.mit.edu	37	5	55212787	55212787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:55212787C>T	uc003jql.2	+	15	2199	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C	IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.R570C	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	680	Cytoplasmic (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAGGGGACCCGCCCAGAAGC	0.483		NaN											0	0	0	0.008291	0	11	49				
THBS4	7060	broad.mit.edu	37	5	79375841	79375841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:79375841G>A	uc003kgh.2	+	21	2948	c.2625G>A	c.(2623-2625)TGG>TGA	p.W875*	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	875	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGTGGGCTGGAAGGACAAGG	0.597		NaN											0	0	0	0.006214	0	9	34				
RASA1	5921	broad.mit.edu	37	5	86679590	86679590	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:86679590C>T	uc003kiw.2	+	21	2869	c.2751C>T	c.(2749-2751)ATC>ATT	p.I917I	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.I740I|RASA1_uc011ctv.1_Silent_p.I750I|RASA1_uc011ctw.1_Silent_p.I751I|RASA1_uc010jaw.2_Silent_p.I739I	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	917	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGTTCAATATCATCTCAGGTA	0.274		NaN											0	0	0	0.021553	0	5	20				
PCDHA13	56136	broad.mit.edu	37	5	140263361	140263361	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:140263361C>A	uc003lif.2	+	1	1508	c.1508C>A	c.(1507-1509)GCG>GAG	p.A503E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A503E|PCDHA13_uc003lid.2_Missense_Mutation_p.A503E	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGTGCGCTGTCGAGC	0.672		NaN											1	0	0.000132079	0.008871	0.000137198	19	65				
ZNF354B	117608	broad.mit.edu	37	5	178310335	178310335	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:178310335G>A	uc003mjl.2	+	5	1108	c.882G>A	c.(880-882)GTG>GTA	p.V294V	ZNF354B_uc003mjm.2_Silent_p.V294V	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATACTGTGGAGAAATGCT	0.378		NaN											0	0	0	0.009535	0	31	81				
ADAMTS2	9509	broad.mit.edu	37	5	178579179	178579179	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr5:178579179C>T	uc003mjw.2	-	10	1593	c.1593G>A	c.(1591-1593)GGG>GGA	p.G531G	ADAMTS2_uc011dgm.1_Silent_p.G531G	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	531	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAAGGGGGGCCCCTTCTTGG	0.592		NaN											0	0	0	0.021553	0	6	36				
OR2J2	26707	broad.mit.edu	37	6	29141694	29141694	+	Silent	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr6:29141694G>A	uc011dlm.1	+	1	384	c.282G>A	c.(280-282)TCG>TCA	p.S94S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGACCATCTCGTATGCTGGTT	0.473		NaN											0	0	0	0.006214	0	9	184				
ENPP1	5167	broad.mit.edu	37	6	132204911	132204911	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr6:132204911C>G	uc011ecf.1	+	22	2328	c.2308C>G	c.(2308-2310)CAA>GAA	p.Q770E		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	770	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCAGAGTTTTCAAGGTAAATA	0.274		NaN											0	0	0	0.010504	0	21	44				
VWC2	375567	broad.mit.edu	37	7	49951714	49951714	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr7:49951714A>T	uc003tot.1	+	4	1467	c.911A>T	c.(910-912)TAT>TTT	p.Y304F		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	304					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						CACTGTACTTATGAGGAAGGC	0.493		NaN											0	0	0	0.024245	0	14	40				
ZCWPW1	55063	broad.mit.edu	37	7	100013666	100013666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr7:100013666C>T	uc003uut.2	-	8	931	c.683G>A	c.(682-684)CGA>CAA	p.R228Q	ZCWPW1_uc011kjq.1_Missense_Mutation_p.R108Q|ZCWPW1_uc003uur.2_Missense_Mutation_p.R108Q|ZCWPW1_uc003uus.2_Missense_Mutation_p.R108Q|ZCWPW1_uc011kjr.1_Missense_Mutation_p.R228Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.R228Q|ZCWPW1_uc011kjs.1_Missense_Mutation_p.R108Q	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	228							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTTTAGTCGGTCTTCCTG	0.443		NaN											0	0	0	0.008291	0	11	130				
CSMD1	64478	broad.mit.edu	37	8	2876065	2876065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:2876065C>T	uc011kwk.1	-	52	8356	c.7966G>A	c.(7966-7968)GTG>ATG	p.V2656M	CSMD1_uc011kwj.1_Missense_Mutation_p.V1985M|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2656	Extracellular (Potential).|Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGACCCCACAAGCGTGTAG	0.498		NaN											0	0	0	0.01441	0	69	108				
ADAM2	2515	broad.mit.edu	37	8	39604116	39604116	+	Missense_Mutation	SNP	T	T	A	rs142592344	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:39604116T>A	uc003xnj.2	-	19	2124	c.2049A>T	c.(2047-2049)AAA>AAT	p.K683N	ADAM2_uc003xnk.2_Missense_Mutation_p.K664N|ADAM2_uc011lck.1_Missense_Mutation_p.K620N|ADAM2_uc003xnl.2_Missense_Mutation_p.K527N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	683	Extracellular (Potential).				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATCTCATTGGTTTGGAATGGT	0.299		NaN											0	0	0	0.01892	0	23	113				
DPY19L4	286148	broad.mit.edu	37	8	95751649	95751649	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr8:95751649G>A	uc003ygx.2	+	5	476	c.352G>A	c.(352-354)GAA>AAA	p.E118K	DPY19L4_uc003ygy.2_Missense_Mutation_p.E55K	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	118						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AGGTGTTTACGAACTGACACA	0.313		NaN											0	0	0	0.00308	0	7	103				
PDCL	5082	broad.mit.edu	37	9	125585294	125585294	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:125585294C>A	uc004bmz.1	-	3	450	c.354_splice	c.e3+1	p.K118_splice	PDCL_uc004bna.2_Splice_Site_p.K118_splice	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like						signal transduction|visual perception						0						CTGCTAATTACCTTCCCACTG	0.478		NaN											1	0	3.54561e-26	0.009718	3.92654e-26	42	60				
FAM48B2	170067	broad.mit.edu	37	X	24329557	24329557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:24329557C>T	uc011mjw.1	-	1	1876	c.1876G>A	c.(1876-1878)GGT>AGT	p.G626S		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	626											0						TGCACTGCACCGGGCCTTGCA	0.622		NaN											0	0	0	0.009096	0	4	31				
IL2RG	3561	broad.mit.edu	37	X	70331384	70331384	+	Silent	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:70331384C>T	uc004dyw.1	-	1	20	c.6G>A	c.(4-6)TTG>TTA	p.L2L	IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	2					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATGATGGCTTCAACATGGCGC	0.552		NaN							Severe_Combined_Immunodeficiency_X-linked				0	0	0	0.004482	0	9	18				
ATP7A	538	broad.mit.edu	37	X	77268496	77268496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:77268496C>T	uc004ecx.3	+	10	2453	c.2293C>T	c.(2293-2295)CTT>TTT	p.L765F		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	765	Extracellular (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TTTGATTATTCTTCTAGTTGC	0.423		NaN											0	0	0	0.01441	0	59	61				
MAGEC3	139081	broad.mit.edu	37	X	140969332	140969332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:140969332G>A	uc011mwp.1	+	4	659	c.659G>A	c.(658-660)GGC>GAC	p.G220D		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	220	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACATACACGGGCTACTTTCCT	0.438		NaN											0	0	0	0.01441	0	56	47				
CAMTA1	23261	broad.mit.edu	37	1	7724545	7724545	+	Silent	SNP	G	G	A	rs142993717		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:7724545G>A	uc001aoi.2	+	9	2145	c.1938G>A	c.(1936-1938)ACG>ACA	p.T646T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGATGCCCACGGTGAAAACGG	0.637		NaN											0	0	0	0.013726	0	33	161				
UBR4	23352	broad.mit.edu	37	1	19497352	19497352	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:19497352C>T	uc001bbi.2	-	26	3551	c.3547G>A	c.(3547-3549)GAA>AAA	p.E1183K	UBR4_uc001bbm.1_Missense_Mutation_p.E394K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1183					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTCCCTCTTCATTAAAGTTT	0.453		NaN											0	0	0	0.01441	0	48	49				
EIF4G3	8672	broad.mit.edu	37	1	21183933	21183933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:21183933C>T	uc001bec.2	-	20	3390	c.3134G>A	c.(3133-3135)CGG>CAG	p.R1045Q	EIF4G3_uc010odi.1_Missense_Mutation_p.R649Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R1044Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R765Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R1081Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R1051Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1045					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCCAGTACCCGACTGTTCTT	0.463		NaN											0	0	0	0.01441	0	101	247				
ARID1A	8289	broad.mit.edu	37	1	27059176	27059176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:27059176C>G	uc001bmv.1	+	4	2186	c.1813C>G	c.(1813-1815)CAA>GAA	p.Q605E	ARID1A_uc001bmt.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmu.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmw.1_Missense_Mutation_p.Q222E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	605					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCTATCTCAAGATTCATT	0.483		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.010729	0	12	73		Valid		
C1orf94	84970	broad.mit.edu	37	1	34663196	34663196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:34663196G>A	uc001bxs.3	+	2	520	c.121G>A	c.(121-123)GAC>AAC	p.D41N	C1orf94_uc001bxt.2_Missense_Mutation_p.D231N	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	41							protein binding				0		Myeloproliferative disorder(586;0.0393)				CATCCTAGGTGACTCCAACTT	0.542		NaN											0	0	0	0.016723	0	14	35				
PPIE	10450	broad.mit.edu	37	1	40214744	40214744	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:40214744C>G	uc001cds.1	+	8	721	c.678C>G	c.(676-678)CTC>CTG	p.L226L	PPIE_uc001cdt.1_Silent_p.L160L|PPIE_uc010oiy.1_Silent_p.L147L|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Silent_p.L226L|PPIE_uc001cdw.2_Silent_p.L226L|PPIE_uc001cdx.1_Silent_p.L142L	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	226	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTATCCTCAAGCATACGG	0.547		NaN											0	0	0	0.008871	0	16	70				
TIE1	7075	broad.mit.edu	37	1	43778257	43778257	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:43778257C>A	uc001ciu.2	+	12	1991	c.1912C>A	c.(1912-1914)CTT>ATT	p.L638I	TIE1_uc010okd.1_Missense_Mutation_p.L638I|TIE1_uc010oke.1_Missense_Mutation_p.L593I|TIE1_uc009vwq.2_Missense_Mutation_p.L594I|TIE1_uc010okf.1_Missense_Mutation_p.L283I|TIE1_uc010okg.1_Missense_Mutation_p.L283I	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	638	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCACACGTGCTTCTGCCCCC	0.657		NaN											1	0	2.44723e-14	0.024334	2.77353e-14	24	29				
MTF2	22823	broad.mit.edu	37	1	93581036	93581036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:93581036G>A	uc009wdj.2	+	6	785	c.493G>A	c.(493-495)GCA>ACA	p.A165T	MTF2_uc001dph.2_Missense_Mutation_p.A63T|MTF2_uc010oth.1_Missense_Mutation_p.A63T|MTF2_uc009wdk.2_Missense_Mutation_p.A165T|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.A63T|MTF2_uc001dpj.3_Missense_Mutation_p.A63T|MTF2_uc001dpl.3_Missense_Mutation_p.A63T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	165						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAGGGGTGGTGCACTTAAGAA	0.393		NaN											0	0	0	0.024245	0	11	33				
GNAI3	2773	broad.mit.edu	37	1	110128959	110128959	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:110128959G>A	uc001dxz.2	+	6	869	c.712G>A	c.(712-714)GAG>AAG	p.E238K		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	238					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GGCTGAGGACGAGGAGATGGT	0.413		NaN											0	0	0	0.007835	0	41	112				
PIP5K1A	8394	broad.mit.edu	37	1	151171506	151171506	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:151171506G>C	uc001exj.2	+	1	486	c.34G>C	c.(34-36)GTC>CTC	p.V12L	PIP5K1A_uc001exi.2_Missense_Mutation_p.V12L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V12L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V12L	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	12					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCGTCTTCGGTCGGTTTTTC	0.612		NaN											0	0	0	0.010771	0	44	342				
NTRK1	4914	broad.mit.edu	37	1	156844786	156844786	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:156844786A>T	uc001fqh.1	+	11	1396	c.1340A>T	c.(1339-1341)AAG>ATG	p.K447M	NTRK1_uc001fqf.1_Missense_Mutation_p.K411M|NTRK1_uc009wsi.1_Missense_Mutation_p.K146M|NTRK1_uc001fqi.1_Missense_Mutation_p.K441M|NTRK1_uc009wsk.1_Missense_Mutation_p.K441M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	447	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGGAGAAACAAGTTTGGGATC	0.577		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.017118	0	36	155				
FMO3	2328	broad.mit.edu	37	1	171086520	171086520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:171086520C>T	uc001ghi.2	+	9	1648	c.1537C>T	c.(1537-1539)CAT>TAT	p.H513Y	FMO3_uc001ghh.2_Missense_Mutation_p.H513Y|FMO3_uc010pmb.1_Missense_Mutation_p.H493Y|FMO3_uc010pmc.1_Missense_Mutation_p.H450Y	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTTTTTCCATTGGCTGAA	0.458		NaN											0	0	0	0.01441	0	62	50				
TNR	7143	broad.mit.edu	37	1	175355234	175355234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:175355234C>T	uc001gkp.1	-	6	1792	c.1711G>A	c.(1711-1713)GAG>AAG	p.E571K	TNR_uc009wwu.1_Missense_Mutation_p.E571K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	571	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTGACACCTCGTATCGGGAG	0.637		NaN											0	0	0	0.016723	0	14	206				
SEC16B	89866	broad.mit.edu	37	1	177927476	177927476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:177927476C>T	uc001gli.1	-	10	1246	c.1156G>A	c.(1156-1158)GCT>ACT	p.A386T	SEC16B_uc001glk.1_Missense_Mutation_p.A63T|SEC16B_uc001glh.1_Missense_Mutation_p.A45T|SEC16B_uc009wwz.1_Missense_Mutation_p.A45T|SEC16B_uc001glj.1_Missense_Mutation_p.A387T|SEC16B_uc001gll.3_Missense_Mutation_p.A387T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	386					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						AGCAGCTCAGCGATGTCAGAC	0.572		NaN											0	0	0	0.004482	0	9	100				
LAMC1	3915	broad.mit.edu	37	1	183087279	183087279	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:183087279G>C	uc001gpy.3	+	11	2245	c.1988G>C	c.(1987-1989)AGA>ACA	p.R663T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	663	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAGTGAGAGAAGTAAGTTA	0.353		NaN											0	0	0	0.008291	0	11	41				
PLXNA2	5362	broad.mit.edu	37	1	208234158	208234158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:208234158C>A	uc001hgz.2	-	13	3369	c.2611G>T	c.(2611-2613)GAA>TAA	p.E871*		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	871	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCCTCCTTCCGGCGGTCCA	0.602		NaN											1	0	0.00887093	0.008871	0.00911464	18	29				
RGS7	6000	broad.mit.edu	37	1	240966262	240966262	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:240966262G>A	uc001hyv.2	-	16	1631	c.1301C>T	c.(1300-1302)TCA>TTA	p.S434L	RGS7_uc010pyh.1_Missense_Mutation_p.S408L|RGS7_uc010pyj.1_Missense_Mutation_p.S350L|RGS7_uc001hyu.2_Missense_Mutation_p.S434L|RGS7_uc009xgn.1_Missense_Mutation_p.S381L|RGS7_uc001hyw.2_Missense_Mutation_p.S434L|RGS7_uc001hyt.2_Missense_Mutation_p.S266L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	434	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACGTGGGTATGAATCACTTTT	0.358		NaN											0	0	0	0.016522	0	23	94				
OR14C36	127066	broad.mit.edu	37	1	248512486	248512486	+	Missense_Mutation	SNP	G	G	C	rs142744958		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248512486G>C	uc010pzl.1	+	1	410	c.410G>C	c.(409-411)CGA>CCA	p.R137P		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGAACTCTCGAATCTGCATC	0.512		NaN											0	0	0	0.016723	0	12	102				
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr1:248637272C>T	uc001iel.1	+	1	621	c.621C>T	c.(619-621)TGC>TGT	p.C207C		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACCTGTGCTGCATCCTCA	0.537		NaN											0	0	0	0.01441	0	276	140				
KIAA1274	27143	broad.mit.edu	37	10	72300920	72300920	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr10:72300920C>T	uc001jrd.3	+	16	2252	c.1971C>T	c.(1969-1971)TTC>TTT	p.F657F	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	657										ovary(2)|central_nervous_system(1)	3						GCACTGGCTTCGTGTTCAGCT	0.632		NaN											0	0	0	0.013537	0	13	49				
OR52B2	255725	broad.mit.edu	37	11	6191265	6191265	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6191265C>T	uc010qzy.1	-	1	292	c.292G>A	c.(292-294)GCC>ACC	p.A98T		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGACACAGGCATCAAAAGCA	0.517		NaN											0	0	0	0.006122	0	18	71				
FAM160A2	84067	broad.mit.edu	37	11	6243787	6243787	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:6243787C>T	uc001mcl.3	-	6	1435	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	FAM160A2_uc001mck.3_Missense_Mutation_p.R359Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R359Q	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	359					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TGAGATACTCCGTAGGAAAAG	0.527		NaN											0	0	0	0.010504	0	17	37				
KCNA4	3739	broad.mit.edu	37	11	30033452	30033452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:30033452G>C	uc001msk.2	-	2	1926	c.774C>G	c.(772-774)TTC>TTG	p.F258L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	258						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCAACTGATAGAACTTCACCT	0.507		NaN											0	0	0	0.012319	0	19	59				
ESRRA	2101	broad.mit.edu	37	11	64082320	64082320	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64082320A>G	uc001nzq.1	+	5	856	c.679A>G	c.(679-681)ACC>GCC	p.T227A	ESRRA_uc001nzr.1_Missense_Mutation_p.T226A|ESRRA_uc001nzs.1_Missense_Mutation_p.T227A|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	227	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						AGCCGTGGCTACCCTCTGTGA	0.612		NaN											0	0	0	0.013537	0	12	21				
TM7SF2	7108	broad.mit.edu	37	11	64882277	64882277	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64882277C>G	uc001oct.2	+	6	843	c.696C>G	c.(694-696)CTC>CTG	p.L232L	TM7SF2_uc010rny.1_Silent_p.L116L|TM7SF2_uc001ocu.2_Silent_p.L232L|TM7SF2_uc001ocv.2_Silent_p.L253L|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	232					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						TCCAGTTGCTCTACGTGGGTG	0.607		NaN											0	0	0	0.010729	0	10	66				
ZNHIT2	741	broad.mit.edu	37	11	64884048	64884048	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884048C>T	uc001ocw.2	-	1	1123	c.1078G>A	c.(1078-1080)GAC>AAC	p.D360N	uc009yqb.1_5'UTR	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	360							metal ion binding			breast(1)	1						CTGGCGCAGTCTAGGGCCAGG	0.647		NaN											0	0	0	0.020292	0	15	64				
ZNHIT2	741	broad.mit.edu	37	11	64884237	64884237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:64884237C>A	uc001ocw.2	-	1	934	c.889G>T	c.(889-891)GAG>TAG	p.E297*	uc009yqb.1_Silent_p.L36L	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	297							metal ion binding			breast(1)	1						GTCGGGCCCTCGCCCAGCAGG	0.711		NaN											1	0	1.5842e-08	0.016723	1.70256e-08	13	44				
CEP164	22897	broad.mit.edu	37	11	117266864	117266864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117266864C>T	uc001prc.2	+	25	3331	c.3184C>T	c.(3184-3186)CAT>TAT	p.H1062Y	CEP164_uc001prb.2_Missense_Mutation_p.H1065Y|CEP164_uc010rxk.1_Missense_Mutation_p.H1036Y|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.H495Y	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1062					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCCAGATCTCCATATTGAGGA	0.572		NaN											0	0	0	0.008361	0	29	110				
IL10RA	3587	broad.mit.edu	37	11	117864081	117864081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:117864081C>T	uc001prv.2	+	4	570	c.493C>T	c.(493-495)CGA>TGA	p.R165*	IL10RA_uc010rxl.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxm.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxn.1_Nonsense_Mutation_p.R16*|IL10RA_uc001prw.2_Nonsense_Mutation_p.R16*	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	165	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CAGTCACTTCCGAGAGTATGA	0.557		NaN											0	0	0	0.013537	0	13	56				
OR10S1	219873	broad.mit.edu	37	11	123848028	123848028	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:123848028G>A	uc001pzm.1	-	1	371	c.371C>T	c.(370-372)ACT>ATT	p.T124I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	124	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAAGCACTCAGTGCTGGCCAG	0.542		NaN											0	0	0	0.004482	0	8	23				
EPS8	2059	broad.mit.edu	37	12	15807190	15807190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:15807190G>T	uc009zif.2	-	13	1233	c.1139C>A	c.(1138-1140)TCA>TAA	p.S380*	EPS8_uc001rdb.2_Nonsense_Mutation_p.S380*|EPS8_uc009zig.2_Nonsense_Mutation_p.S120*|EPS8_uc010shv.1_Nonsense_Mutation_p.S120*	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	380					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACTAAGTACTGAACTGGCTAG	0.383		NaN											1	0	2.61681e-11	0.020292	2.86166e-11	15	68				
ARID2	196528	broad.mit.edu	37	12	46243818	46243818	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46243818G>A	uc001ros.1	+	15	1913	c.1913_splice	c.e15-1	p.G638_splice	ARID2_uc001ror.2_Splice_Site_p.G638_splice|ARID2_uc009zkg.1_Splice_Site_p.G94_splice|ARID2_uc009zkh.1_Splice_Site_p.G265_splice|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTTTCAGGAATCCCTCA	0.333		NaN											0	0	0	0.010818	0	33	53		Valid		
SLC38A2	54407	broad.mit.edu	37	12	46765027	46765027	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:46765027C>T	uc001rpg.2	-	2	490	c.50G>A	c.(49-51)AGC>AAC	p.S17N	SLC38A2_uc001rph.2_5'UTR	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	17	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTAGCTGCTGCTGTCTTCATC	0.512		NaN											0	0	0	0.015359	0	33	121				
KRT73	319101	broad.mit.edu	37	12	53012246	53012246	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:53012246G>A	uc001sas.2	-	1	98	c.63C>T	c.(61-63)TCC>TCT	p.S21S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	21	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCACAGCGGAGCAGCCGC	0.642		NaN											0	0	0	0.009535	0	26	52				
HOXC8	3224	broad.mit.edu	37	12	54405067	54405067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:54405067G>A	uc001ser.2	+	2	810	c.631G>A	c.(631-633)GAT>AAT	p.D211N		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	211						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAACAACAAGGATAAACTGCC	0.343		NaN											0	0	0	0.00499	0	17	49				
NEUROD4	58158	broad.mit.edu	37	12	55420612	55420612	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:55420612G>C	uc001sgp.3	+	2	767	c.389G>C	c.(388-390)AGA>ACA	p.R130T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	130	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						GAGACTCTTAGACTGGCCAGG	0.502		NaN											0	0	0	0.00499	0	16	67				
DGKA	1606	broad.mit.edu	37	12	56334764	56334764	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:56334764G>A	uc001sij.2	+	13	1365	c.1101G>A	c.(1099-1101)CGG>CGA	p.R367R	DGKA_uc001sih.1_Silent_p.R255R|DGKA_uc001sii.1_Silent_p.R225R|DGKA_uc009zod.1_Silent_p.R286R|DGKA_uc001sik.2_Silent_p.R367R|DGKA_uc001sil.2_Silent_p.R367R|DGKA_uc001sim.2_Silent_p.R367R|DGKA_uc001sin.2_Silent_p.R367R|DGKA_uc009zof.2_Silent_p.R13R|DGKA_uc001sio.2_Silent_p.R109R	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	367					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	AGGCTCTGCGGGTACAGGGCT	0.542		NaN											0	0	0	0.001984	0	7	27				
ERP29	10961	broad.mit.edu	37	12	112451286	112451286	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:112451286C>T	uc001ttk.1	+	1	135	c.17C>T	c.(16-18)CCC>CTC	p.P6L	ERP29_uc001ttl.1_Missense_Mutation_p.P6L|TMEM116_uc001ttc.1_5'Flank|TMEM116_uc001ttd.1_5'Flank|TMEM116_uc001tte.1_5'Flank|TMEM116_uc001ttf.1_5'Flank|TMEM116_uc001ttg.1_5'Flank|TMEM116_uc001tth.1_5'Flank|TMEM116_uc001tti.1_5'Flank|TMEM116_uc001ttj.1_5'Flank	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	6					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						GCCGCTGTGCCCCGCGCCGCA	0.682		NaN											0	0	0	0.020292	0	14	58				
NCOR2	9612	broad.mit.edu	37	12	124820110	124820110	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:124820110T>C	uc010tay.1	-	41	6370	c.6214A>G	c.(6214-6216)ACC>GCC	p.T2072A	NCOR2_uc010taz.1_Missense_Mutation_p.T2056A|NCOR2_uc010tax.1_Missense_Mutation_p.T183A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2073					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGTCGTGGGTCAGACTGGGT	0.677		NaN											0	0	0	0.014758	0	4	21		Valid		
PIWIL1	9271	broad.mit.edu	37	12	130840202	130840202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:130840202G>A	uc001uik.2	+	12	1484	c.1394G>A	c.(1393-1395)GGT>GAT	p.G465D	PIWIL1_uc001uij.1_Missense_Mutation_p.G465D	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	465					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTCACCAAGGTGGAAAAACA	0.249		NaN											0	0	0	0.006214	0	10	106				
GPR133	283383	broad.mit.edu	37	12	131593323	131593323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr12:131593323G>A	uc001uit.3	+	18	2501	c.1942G>A	c.(1942-1944)GCA>ACA	p.A648T	GPR133_uc010tbm.1_Missense_Mutation_p.A680T|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.A167T|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	648	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGTGCCTTCGCATGGATGCT	0.517		NaN											0	0	0	0.013726	0	31	145				
SPG20	23111	broad.mit.edu	37	13	36909198	36909198	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr13:36909198G>C	uc001uvn.2	-	3	1040	c.770C>G	c.(769-771)TCT>TGT	p.S257C	SPG20_uc010ten.1_Missense_Mutation_p.S257C|SPG20_uc001uvm.2_Missense_Mutation_p.S257C|SPG20_uc001uvo.2_Missense_Mutation_p.S257C|SPG20_uc001uvq.2_Missense_Mutation_p.S257C|SPG20_uc001uvp.2_Missense_Mutation_p.S257C	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	257					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CGTATCGAGAGAATTATCCAA	0.388		NaN											0	0	0	0.017118	0	31	98				
PRMT5	10419	broad.mit.edu	37	14	23393862	23393862	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:23393862G>C	uc001whm.1	-	9	1087	c.996C>G	c.(994-996)ATC>ATG	p.I332M	PRMT5_uc001whl.1_Missense_Mutation_p.I315M|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.I226M|PRMT5_uc010tng.1_Missense_Mutation_p.I271M|PRMT5_uc010tnh.1_Missense_Mutation_p.I288M|PRMT5_uc001whn.1_Missense_Mutation_p.I161M	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	332					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGAGTATTTGATGGGGTCCT	0.478		NaN											0	0	0	0.021553	0	6	52				
YLPM1	56252	broad.mit.edu	37	14	75265975	75265975	+	Silent	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:75265975A>G	uc001xqj.3	+	5	4099	c.3975A>G	c.(3973-3975)GAA>GAG	p.E1325E	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1130	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTTCGTGAACGGGATATTC	0.443		NaN											0	0	0	0.006122	0	19	64				
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:94964104G>C	uc001ydj.2	-	3	1427	c.631C>G	c.(631-633)CGA>GGA	p.R211G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.219		NaN											0	0	0	0.010504	0	19	64				
HSP90AA1	3320	broad.mit.edu	37	14	102550835	102550835	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr14:102550835C>G	uc001yku.3	-	6	1238	c.1048G>C	c.(1048-1050)GAT>CAT	p.D350H	HSP90AA1_uc001ykv.3_Missense_Mutation_p.D472H|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D171H|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D339H	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	350					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCAAACAGATCAAAAGGAGCA	0.373		NaN											0	0	0	0.020292	0	15	61				
OTUD7A	161725	broad.mit.edu	37	15	31793915	31793915	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:31793915C>G	uc001zfq.2	-	8	1221	c.1128G>C	c.(1126-1128)CAG>CAC	p.Q376H	OTUD7A_uc001zfr.2_Missense_Mutation_p.Q383H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	376	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGGTCTCTCTGTTCCATGG	0.577		NaN											0	0	0	0.006214	0	9	57				
CASC5	57082	broad.mit.edu	37	15	40917795	40917795	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr15:40917795G>T	uc010bbs.1	+	11	5572	c.5411G>T	c.(5410-5412)AGA>ATA	p.R1804I	CASC5_uc010ucq.1_Missense_Mutation_p.R1628I|CASC5_uc001zme.2_Missense_Mutation_p.R1778I|CASC5_uc010bbt.1_Missense_Mutation_p.R1778I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1804					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAAAAATCAGAAAAAATGAG	0.333		NaN											1	0	5.9392e-07	0.021553	6.3104e-07	5	37				
CCDC101	112869	broad.mit.edu	37	16	28602255	28602255	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:28602255G>A	uc002dqf.2	+	9	949	c.764G>A	c.(763-765)CGG>CAG	p.R255Q	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	255	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CCCCCACAGCGGGTAAAGCAG	0.617		NaN											0	0	0	0.004672	0	3	13				
PARD6A	50855	broad.mit.edu	37	16	67695381	67695381	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:67695381C>A	uc002ett.2	+	2	178	c.87C>A	c.(85-87)TTC>TTA	p.F29L	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.F29L|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	29	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TCCGACGCTTCGCGCTGCCTC	0.662		NaN											1	0	3.51602e-12	0.008871	3.8905e-12	18	67				
HYDIN	54768	broad.mit.edu	37	16	71220684	71220684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr16:71220684C>A	uc002ezr.2	-	2	243	c.115G>T	c.(115-117)GAA>TAA	p.E39*	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Nonsense_Mutation_p.E39*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.E56*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.E66*|HYDIN_uc002ezw.3_Nonsense_Mutation_p.E56*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	39										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				ACTTCTTCTTCTGTAACCACC	0.413		NaN											1	0	1.08611e-07	0.010729	1.16058e-07	12	65				
SPATA22	84690	broad.mit.edu	37	17	3352265	3352265	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:3352265T>C	uc002fvm.2	-	6	745	c.508A>G	c.(508-510)AAA>GAA	p.K170E	SPATA22_uc010vrg.1_Missense_Mutation_p.K154E|SPATA22_uc010vrf.1_Missense_Mutation_p.K170E|SPATA22_uc002fvn.2_Missense_Mutation_p.K170E|SPATA22_uc002fvo.2_Missense_Mutation_p.K170E|SPATA22_uc002fvp.2_Missense_Mutation_p.K170E|SPATA22_uc010ckf.2_Missense_Mutation_p.K127E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	170											0						TCGGTTTCTTTGTTGCGAGAT	0.403		NaN											0	0	0	0.01441	0	71	175				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7578454G>A	uc002gim.2	-	5	670	c.476C>T	c.(475-477)GCC>GTC	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.006122	0	16	64		Valid		
CHD3	1107	broad.mit.edu	37	17	7808955	7808955	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7808955G>C	uc002gje.2	+	27	4305	c.4155G>C	c.(4153-4155)AAG>AAC	p.K1385N	CHD3_uc002gjd.2_Missense_Mutation_p.K1444N|CHD3_uc002gjf.2_Missense_Mutation_p.K1385N|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1385					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GACAGTCAAAGAGGCAGCTCC	0.567		NaN											0	0	0	0.021553	0	6	16				
EMILIN2	84034	broad.mit.edu	37	18	2892374	2892374	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:2892374C>T	uc002kln.2	+	4	2408	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	750					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		ACGCTCAGGTCGCATTCCAGA	0.483		NaN											0	0	0	0.008871	0	21	165				
C18orf1	753	broad.mit.edu	37	18	13645279	13645279	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:13645279C>T	uc002ksa.2	+	7	1212	c.544C>T	c.(544-546)CCT>TCT	p.P182S	C18orf1_uc002ksb.2_Missense_Mutation_p.P164S|C18orf1_uc002kse.2_Missense_Mutation_p.P145S|C18orf1_uc002ksf.2_Missense_Mutation_p.P127S|C18orf1_uc002ksg.1_Missense_Mutation_p.P105S|C18orf1_uc002ksh.1_Missense_Mutation_p.P124S|C18orf1_uc002ksi.1_Missense_Mutation_p.P106S	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	182	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		AGAGCCACCTCCTTACCAGGG	0.607		NaN											0	0	0	0.016522	0	23	225				
ASXL3	80816	broad.mit.edu	37	18	31326233	31326233	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:31326233A>G	uc010dmg.1	+	12	6476	c.6421A>G	c.(6421-6423)AAA>GAA	p.K2141E	ASXL3_uc002kxq.2_Missense_Mutation_p.K1848E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGCTGCTCAGAAAATGCAGGT	0.408		NaN											0	0	0	0.012213	0	34	83				
DCC	1630	broad.mit.edu	37	18	50976988	50976988	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:50976988C>T	uc002lfe.1	+	23	3935	c.3348C>T	c.(3346-3348)ATC>ATT	p.I1116I	DCC_uc010dpf.1_Silent_p.I751I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1116	Helical; (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGTGGTCATCGTGGCTGTGA	0.512		NaN											0	0	0	0.008291	0	9	28				
NFATC1	4772	broad.mit.edu	37	18	77170646	77170646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:77170646C>T	uc010xfg.1	+	2	824	c.371C>T	c.(370-372)TCG>TTG	p.S124L	NFATC1_uc002lnc.1_Missense_Mutation_p.S124L|NFATC1_uc010xff.1_Missense_Mutation_p.S124L|NFATC1_uc002lnd.2_Missense_Mutation_p.S124L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S124L|NFATC1_uc010xfi.1_Missense_Mutation_p.S111L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S111L|NFATC1_uc002lng.2_Missense_Mutation_p.S111L|NFATC1_uc010xfk.1_Missense_Mutation_p.S111L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	124					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GAGATAACCTCGTGCTTGGGC	0.627		NaN											0	0	0	0.004482	0	9	50				
SH3GL1	6455	broad.mit.edu	37	19	4362650	4362650	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:4362650G>A	uc002maj.2	-	8	918	c.812C>T	c.(811-813)TCC>TTC	p.S271F	SH3GL1_uc002mak.2_Missense_Mutation_p.S207F|SH3GL1_uc010xig.1_Missense_Mutation_p.S223F	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	271					central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCCCCCGTTGGACTGCTCAGG	0.642		NaN	T	MLL	AL								0	0	0	0.028581	0	16	54				
RANBP3	8498	broad.mit.edu	37	19	5931433	5931433	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:5931433A>T	uc002mdw.2	-	8	902	c.675T>A	c.(673-675)GAT>GAA	p.D225E	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.D225E|RANBP3_uc002mdy.2_Missense_Mutation_p.D157E|RANBP3_uc002mdz.2_Missense_Mutation_p.D157E|RANBP3_uc010duq.2_Missense_Mutation_p.D135E|RANBP3_uc002mea.2_Missense_Mutation_p.D97E|RANBP3_uc010xix.1_Missense_Mutation_p.D97E	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	225					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CACACACCTCATCGGCAGCTT	0.652		NaN											0	0	0	0.008871	0	20	27				
ICAM5	7087	broad.mit.edu	37	19	10402336	10402336	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:10402336G>A	uc002mnu.3	+	3	589	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	ICAM5_uc002mnv.3_Missense_Mutation_p.R50Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	175	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAACCACCCCGAGCGCGGGGC	0.731		NaN											0	0	0	0.006214	0	10	54				
UNC13A	23025	broad.mit.edu	37	19	17760337	17760337	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:17760337A>G	uc002nhd.2	-	14	1763	c.1763T>C	c.(1762-1764)ATC>ACC	p.I588T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	500					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CACGAGTGGGATAGGTTTCCT	0.572		NaN											0	0	0	0.023175	0	38	83				
PSG1	5669	broad.mit.edu	37	19	43376193	43376193	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:43376193C>G	uc002ovb.2	-	3	573	c.435G>C	c.(433-435)GAG>GAC	p.E145D	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.E145D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.E145D|PSG1_uc010eio.1_Missense_Mutation_p.E145D|PSG1_uc002oux.1_Missense_Mutation_p.E74D|PSG1_uc002ouy.1_Missense_Mutation_p.E145D|PSG1_uc002ouz.1_Missense_Mutation_p.E145D|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.E145D	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	145					female pregnancy	extracellular region		p.E145G(1)		ovary(2)	2		Prostate(69;0.00682)				GCTTAGGAGTCTCCACTGTGC	0.522		NaN											0	0	0	0.024334	0	28	330				
KLC3	147700	broad.mit.edu	37	19	45854218	45854218	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45854218G>C	uc002pbf.1	+	12	1501	c.1386G>C	c.(1384-1386)AAG>AAC	p.K462N	KLC3_uc010ejy.1_Missense_Mutation_p.K461N|KLC3_uc002pbg.1_Missense_Mutation_p.K476N	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	462						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCAGAATGAAGAGAGCCATGT	0.552		NaN											0	0	0	0.006214	0	9	94				
PPP1R13L	10848	broad.mit.edu	37	19	45895561	45895561	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:45895561C>T	uc002pbn.2	-	8	1469	c.1392G>A	c.(1390-1392)CCG>CCA	p.P464P	PPP1R13L_uc002pbm.2_Silent_p.P43P|PPP1R13L_uc002pbo.2_Silent_p.P464P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	464	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCTATCTCCGGCTCAGGCT	0.647		NaN											0	0	0	0.016723	0	13	82				
ZNF419	79744	broad.mit.edu	37	19	58005153	58005153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr19:58005153G>T	uc002qov.2	+	5	1468	c.1228G>T	c.(1228-1230)GAG>TAG	p.E410*	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Nonsense_Mutation_p.E411*|ZNF419_uc010etz.1_Nonsense_Mutation_p.E398*|ZNF419_uc010eua.1_Nonsense_Mutation_p.E397*|ZNF419_uc002qow.2_Nonsense_Mutation_p.E378*|ZNF419_uc010eub.1_Nonsense_Mutation_p.E365*|ZNF419_uc010euc.1_Nonsense_Mutation_p.E364*	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	410	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATTCTTTAGAGAGAATTCCAC	0.418		NaN											1	0	9.57634e-11	0.01892	1.03513e-10	24	120				
PIGF	5281	broad.mit.edu	37	2	46840834	46840834	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46840834C>G	uc002rvd.2	-	3	483	c.319G>C	c.(319-321)GAG>CAG	p.E107Q	PIGF_uc002rvc.2_Missense_Mutation_p.E107Q	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	107					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAAACTTACTCTATCAGTGGT	0.303		NaN											0	0	0	0.009096	0	4	15				
PIGF	5281	broad.mit.edu	37	2	46842192	46842192	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:46842192C>G	uc002rvd.2	-	2	276	c.112G>C	c.(112-114)GAA>CAA	p.E38Q	PIGF_uc002rvc.2_Missense_Mutation_p.E38Q|CRIPT_uc002rve.2_5'Flank	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	38					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTGTGTTTCCAATATTGAG	0.348		NaN											0	0	0	0.008871	0	20	118				
PELI1	57162	broad.mit.edu	37	2	64322381	64322381	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:64322381A>C	uc002scs.3	-	6	4751	c.712T>G	c.(712-714)TTA>GTA	p.L238V	PELI1_uc002sct.3_Missense_Mutation_p.L238V|PELI1_uc002scr.3_Missense_Mutation_p.L59V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	238					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						CCATCTTGTAACTGATTGGTT	0.398		NaN											0	0	0	0.01892	0	25	43				
RETSAT	54884	broad.mit.edu	37	2	85570773	85570773	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:85570773A>T	uc002spd.2	-	10	1873	c.1682T>A	c.(1681-1683)CTC>CAC	p.L561H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L500H|RETSAT_uc010fgf.2_Missense_Mutation_p.L352H	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	561					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	TGTCAGATAGAGGTTGGGGAT	0.647		NaN											0	0	0	0.016522	0	21	36				
FHL2	2274	broad.mit.edu	37	2	105979821	105979821	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:105979821G>A	uc002tcu.2	-	5	946	c.609C>T	c.(607-609)CGC>CGT	p.R203R	FHL2_uc002tdc.2_Silent_p.R89R|FHL2_uc002tdd.2_Silent_p.R203R|FHL2_uc002tct.2_Silent_p.R89R|FHL2_uc002tcv.2_Silent_p.R203R|FHL2_uc002tcw.2_Silent_p.R203R|FHL2_uc002tcx.2_Silent_p.R203R|FHL2_uc010fje.2_Silent_p.R116R|FHL2_uc002tcy.2_Silent_p.R203R|FHL2_uc002tcz.2_Silent_p.R313R|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Silent_p.R319R	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	203	LIM zinc-binding 3.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						CAAAGTCATCGCGAGCTGTGA	0.612		NaN											0	0	0	0.009096	0	4	13				
GLI2	2736	broad.mit.edu	37	2	121747574	121747574	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:121747574G>A	uc010flp.2	+	13	4114	c.4084G>A	c.(4084-4086)GCT>ACT	p.A1362T	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1034T|GLI2_uc002tmu.3_Missense_Mutation_p.A1017T	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1362					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GATGGGGGTGGCTACAGCAGG	0.697		NaN											0	0	0	0.009096	0	4	7				
PDE11A	50940	broad.mit.edu	37	2	178936981	178936981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:178936981C>T	uc002ulq.2	-	1	502	c.184G>A	c.(184-186)GCT>ACT	p.A62T	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	62					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GTGCTGTGAGCCAAGCTGCTG	0.627		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.004482	0	9	16				
REM1	28954	broad.mit.edu	37	20	30071976	30071976	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:30071976G>A	uc002wwa.2	+	5	924	c.640G>A	c.(640-642)GCT>ACT	p.A214T	NCRNA00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	214					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCGCCTGCGCTGTGGTGTT	0.617		NaN											0	0	0	0.013537	0	10	6				
ZMYND8	23613	broad.mit.edu	37	20	45905274	45905274	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:45905274C>G	uc002xta.1	-	11	1458	c.1204G>C	c.(1204-1206)GAC>CAC	p.D402H	ZMYND8_uc010ghq.1_Missense_Mutation_p.D79H|ZMYND8_uc010ghr.1_Missense_Mutation_p.D377H|ZMYND8_uc002xst.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsu.1_Missense_Mutation_p.D402H|ZMYND8_uc002xsv.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsw.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsx.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsy.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsz.1_Missense_Mutation_p.D339H|ZMYND8_uc010zxy.1_Missense_Mutation_p.D429H|ZMYND8_uc002xtb.1_Missense_Mutation_p.D422H|ZMYND8_uc002xss.2_Missense_Mutation_p.D402H|ZMYND8_uc010zxz.1_Missense_Mutation_p.D397H|ZMYND8_uc002xtc.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtd.1_Missense_Mutation_p.D397H|ZMYND8_uc002xte.1_Missense_Mutation_p.D402H|ZMYND8_uc010zya.1_Missense_Mutation_p.D402H|ZMYND8_uc002xtf.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtg.2_Missense_Mutation_p.D396H|ZMYND8_uc010ghs.1_Missense_Mutation_p.D396H	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	402							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCCGTCATGTCAAAGTTGAGC	0.582		NaN											0	0	0	0.009718	0	40	133				
C20orf135	140701	broad.mit.edu	37	20	62493636	62493636	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr20:62493636T>C	uc002ygx.1	+	1	1071	c.743T>C	c.(742-744)GTT>GCT	p.V248A	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	248							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GGCTGGTCTGTTGGCGGCTTC	0.672		NaN											0	0	0	0.00308	0	7	18				
PNPLA3	80339	broad.mit.edu	37	22	44333050	44333050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr22:44333050G>C	uc003bei.1	+	6	1050	c.877G>C	c.(877-879)GCT>CCT	p.A293P	PNPLA3_uc010gzm.1_RNA	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	293	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCTGCCTTGGCTGTGAGGCT	0.617		NaN											0	0	0	0.006214	0	10	29				
HACL1	26061	broad.mit.edu	37	3	15621475	15621475	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:15621475T>C	uc003caf.2	-	9	905	c.745A>G	c.(745-747)ATG>GTG	p.M249V	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M222V|HACL1_uc011avt.1_Missense_Mutation_p.M223V|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M167V|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	249					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						CCCTTCCCCATAGGGGTGGGC	0.443		NaN											0	0	0	0.015359	0	36	55				
GALNTL2	117248	broad.mit.edu	37	3	16268952	16268952	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:16268952G>T	uc003car.3	+	10	2340	c.1865G>T	c.(1864-1866)GGA>GTA	p.G622V	GALNTL2_uc003caq.3_Missense_Mutation_p.G355V|GALNTL2_uc003cas.3_Missense_Mutation_p.G152V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	622	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CCGTGTGATGGAAAAGCCCGC	0.428		NaN											1	0	1.10513e-12	0.014323	1.23012e-12	19	30				
ZNF35	7584	broad.mit.edu	37	3	44692638	44692638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692638G>A	uc003cnq.2	+	2	300	c.79G>A	c.(79-81)GAA>AAA	p.E27K	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	27	Globular domain.|Poly-Glu.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGAAGAAGAAGAAAACTTCCC	0.542		NaN											0	0	0	0.006214	0	10	55				
ZNF35	7584	broad.mit.edu	37	3	44692740	44692740	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:44692740G>C	uc003cnq.2	+	2	402	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	61	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGGATCAGAAGAGGAAGAAAA	0.537		NaN											0	0	0	0.014758	0	5	38				
TDGF1	6997	broad.mit.edu	37	3	46621463	46621463	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:46621463G>C	uc003cpv.2	+	5	641	c.361G>C	c.(361-363)GAC>CAC	p.D121H	LRRC2_uc003cpu.3_5'UTR	NM_003212	NP_003203	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	121					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGTGCCCCATGACACCTGGCT	0.557		NaN											0	0	0	0.010729	0	12	49				
COL7A1	1294	broad.mit.edu	37	3	48623896	48623896	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:48623896G>C	uc003ctz.2	-	26	3420	c.3419C>G	c.(3418-3420)ACA>AGA	p.T1140R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1140	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGTGAGCTGTGACCACGGC	0.592		NaN											0	0	0	0.01441	0	67	95				
HYAL2	8692	broad.mit.edu	37	3	50357493	50357493	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:50357493C>T	uc003czu.2	-	2	648	c.428G>A	c.(427-429)CGC>CAC	p.R143H	HYAL2_uc003czx.2_Missense_Mutation_p.R143H|HYAL2_uc003czv.2_Missense_Mutation_p.R143H|HYAL2_uc003czw.2_Missense_Mutation_p.R143H|HYAL2_uc010hlj.2_Missense_Mutation_p.R143H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	143						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CTGCCAGTTGCGCACCCACAC	0.592		NaN											0	0	0	0.010504	0	21	98				
GRM2	2912	broad.mit.edu	37	3	51747292	51747292	+	Silent	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:51747292C>G	uc010hlv.2	+	3	1493	c.1254C>G	c.(1252-1254)CTC>CTG	p.L418L	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	418	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCGCCGCCTCTACAAGGACT	0.587		NaN											0	0	0	0.004482	0	9	19				
ALAS1	211	broad.mit.edu	37	3	52248035	52248035	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:52248035G>C	uc003dcy.1	+	12	2100	c.1763_splice	c.e12-1	p.E588_splice	ALAS1_uc003dcz.1_Splice_Site_p.E588_splice|ALAS1_uc011bec.1_Splice_Site_p.E605_splice	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor						heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTCTCCTCAGAGAATCTGCT	0.303		NaN											0	0	0	0.010729	0	11	46				
PLXND1	23129	broad.mit.edu	37	3	129304863	129304863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:129304863C>T	uc003emx.2	-	5	1883	c.1783G>A	c.(1783-1785)GAG>AAG	p.E595K		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	595	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CTGGGGCCCTCGCTGGCACTG	0.657		NaN											0	0	0	0.016522	0	24	94				
NDUFB5	4711	broad.mit.edu	37	3	179322629	179322629	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:179322629G>T	uc003fkc.2	+	1	55	c.26G>T	c.(25-27)CGG>CTG	p.R9L	MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9L	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	9					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			skin(1)	1	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTGTTGCGGCGGGTTTCGGTT	0.607		NaN											1	0	0.00621372	0.006214	0.0064197	9	37				
FGFR3	2261	broad.mit.edu	37	4	1803704	1803704	+	Silent	SNP	T	T	C	rs2234909	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1803704T>C	uc003gdr.3	+	7	1138	c.882T>C	c.(880-882)AAT>AAC	p.N294N	FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	294	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.N294N(5)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGAGGTGAATGGCAGCAAGG	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.021553	0	6	23				
WHSC2	7469	broad.mit.edu	37	4	1985773	1985773	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:1985773C>T	uc003gem.2	-	9	1377	c.1137G>A	c.(1135-1137)GCG>GCA	p.A379A	WHSC2_uc003gek.2_Silent_p.A105A|WHSC2_uc003gel.2_Silent_p.A293A|WHSC2_uc003gen.2_Silent_p.A233A	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	368					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GCTTGAACTGCGCTGGCAACG	0.716		NaN											0	0	0	0.009096	0	4	14				
RGS12	6002	broad.mit.edu	37	4	3319746	3319746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:3319746C>T	uc003ggw.2	+	2	2753	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*	RGS12_uc003ggu.2_Nonsense_Mutation_p.R617*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.R617*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R617*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	617						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTCCCCATCGAAATGTTCG	0.582		NaN											0	0	0	0.021523	0	27	107				
EVC2	132884	broad.mit.edu	37	4	5570351	5570351	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:5570351G>A	uc003gij.2	-	20	3431	c.3377C>T	c.(3376-3378)TCG>TTG	p.S1126L	EVC2_uc011bwb.1_Missense_Mutation_p.S566L|EVC2_uc003gik.2_Missense_Mutation_p.S1046L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1126						integral to membrane				large_intestine(3)|ovary(2)	5						CGCCAGGTACGATGCCAGTCT	0.577		NaN											0	0	0	0.00308	0	6	11				
NIPAL1	152519	broad.mit.edu	37	4	48035086	48035086	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:48035086G>C	uc003gxw.2	+	4	513	c.447G>C	c.(445-447)TTG>TTC	p.L149F		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	149	Helical; (Potential).					integral to membrane					0						TGGGTGCTTTGAGTGTTCTCA	0.428		NaN											0	0	0	0.013537	0	13	43				
NHEDC1	150159	broad.mit.edu	37	4	103867833	103867833	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:103867833T>C	uc003hww.2	-	5	618	c.496A>G	c.(496-498)ATA>GTA	p.I166V	NHEDC1_uc003hwu.2_Missense_Mutation_p.I166V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	166	Helical; (Potential).					integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		CCAGCTCTTATTAGAATAATG	0.363		NaN											0	0	0	0.011902	0	45	41				
UGT8	7368	broad.mit.edu	37	4	115544466	115544466	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:115544466G>A	uc003ibs.2	+	2	952	c.430G>A	c.(430-432)GGA>AGA	p.G144R	UGT8_uc003ibt.2_Missense_Mutation_p.G144R|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	144					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGATATGTGTGGATTTGTGAT	0.448		NaN											0	0	0	0.01441	0	49	97				
HHIP	64399	broad.mit.edu	37	4	145573799	145573799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145573799G>C	uc003ijs.1	+	2	977	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	HHIP_uc003ijr.1_Missense_Mutation_p.E108Q	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	108						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAAGTTACTGGAGGAAATCAA	0.393		NaN											0	0	0	0.007413	0	19	92				
HHIP	64399	broad.mit.edu	37	4	145635380	145635380	+	Missense_Mutation	SNP	G	G	A	rs147064425		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:145635380G>A	uc003ijs.1	+	9	2082	c.1427G>A	c.(1426-1428)AGT>AAT	p.S476N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	476						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTCCAGAAAGTGAGCCATCA	0.353		NaN											0	0	0	0.008291	0	10	34				
NPY5R	4889	broad.mit.edu	37	4	164271826	164271826	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:164271826C>T	uc003iqn.2	+	4	583	c.401C>T	c.(400-402)TCA>TTA	p.S134L		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134	Helical; Name=3; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATATCAATTGCCATT	0.358		NaN											0	0	0	0.025465	0	42	159				
CLCN3	1182	broad.mit.edu	37	4	170608906	170608906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:170608906C>A	uc003isi.2	+	4	925	c.416C>A	c.(415-417)TCA>TAA	p.S139*	CLCN3_uc003ish.2_Nonsense_Mutation_p.S139*|CLCN3_uc011cjz.1_Nonsense_Mutation_p.S122*|CLCN3_uc011cka.1_Nonsense_Mutation_p.S139*|CLCN3_uc003isj.1_Nonsense_Mutation_p.S112*	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	139	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGATTGGCATCAGGTAAAGAA	0.358		NaN											1	0	4.84862e-15	0.010729	5.5286e-15	12	62				
GALNTL6	442117	broad.mit.edu	37	4	173961175	173961175	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:173961175C>T	uc003isv.2	+	13	2466	c.1730C>T	c.(1729-1731)TCT>TTT	p.S577F		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	577	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GACCCTCTCTCTGAGACTCAG	0.428		NaN											0	0	0	0.024245	0	16	71				
CDH18	1016	broad.mit.edu	37	5	19571845	19571845	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:19571845C>G	uc003jgc.2	-	7	1473	c.1096G>C	c.(1096-1098)GAT>CAT	p.D366H	CDH18_uc003jgd.2_Missense_Mutation_p.D366H|CDH18_uc011cnm.1_Missense_Mutation_p.D366H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	366	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATAGTAGCATCTTTAAAAGGA	0.403		NaN											0	0	0	0.006122	0	19	55				
GHR	2690	broad.mit.edu	37	5	42718627	42718627	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:42718627G>A	uc003jmt.2	+	10	1061	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	GHR_uc011cpq.1_Missense_Mutation_p.D153N	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	340	Cytoplasmic (Potential).|UbE motif.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACAGTGATGACTCTTGGGT	0.378		NaN											0	0	0	0.01441	0	130	143				
CWC27	10283	broad.mit.edu	37	5	64100077	64100077	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:64100077G>C	uc003jtn.1	+	10	1021	c.802G>C	c.(802-804)GAG>CAG	p.E268Q	CWC27_uc003jtl.2_Missense_Mutation_p.E268Q|CWC27_uc003jtm.2_Missense_Mutation_p.E268Q|CWC27_uc010iwt.1_Missense_Mutation_p.E268Q	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	268					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						TGAAAGTGCAGAGCATGATGA	0.368		NaN											0	0	0	0.028581	0	16	31				
F2RL1	2150	broad.mit.edu	37	5	76128611	76128611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:76128611C>G	uc003keo.2	+	2	354	c.179C>G	c.(178-180)TCT>TGT	p.S60C		NM_005242	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	60	Extracellular (Potential).				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			central_nervous_system(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ACAGTCTTTTCTGTGGATGAG	0.438		NaN											0	0	0	0.012213	0	32	71				
ZCCHC9	84240	broad.mit.edu	37	5	80600669	80600669	+	Silent	SNP	A	A	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:80600669A>C	uc003khj.2	+	2	226	c.93A>C	c.(91-93)GGA>GGC	p.G31G	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.G31G|ZCCHC9_uc003khi.2_Silent_p.G31G	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	31							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCTTTGAGGGAACAAGCCAAA	0.423		NaN											0	0	0	0.012319	0	22	50				
DCP2	167227	broad.mit.edu	37	5	112327847	112327847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:112327847C>G	uc003kqh.2	+	3	433	c.235C>G	c.(235-237)CAA>GAA	p.Q79E	DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	79					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGCTGCCTCAAGGTGAAGA	0.353		NaN											0	0	0	0.014323	0	19	82				
KCNN2	3781	broad.mit.edu	37	5	113698511	113698511	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr5:113698511G>A	uc003kqo.2	+	1	496	c.39G>A	c.(37-39)CCG>CCA	p.P13P		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	13						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCATGCGGCCGCTCAGCAACT	0.607		NaN											0	0	0	0.004482	0	8	6				
ZBTB22	9278	broad.mit.edu	37	6	33284496	33284496	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:33284496C>T	uc003oeb.2	-	2	350	c.198G>A	c.(196-198)CGG>CGA	p.R66R	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.R66R	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	66	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCCGGAACTCCCGGCCCTGCA	0.592		NaN											0	0	0	0.01441	0	48	70				
BRPF3	27154	broad.mit.edu	37	6	36168155	36168155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:36168155C>T	uc003olv.3	+	2	280	c.56C>T	c.(55-57)TCC>TTC	p.S19F	BRPF3_uc010jwb.2_Missense_Mutation_p.S19F|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.S19F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	19					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CGTTCCCCGTCCCCCTACAGT	0.627		NaN											0	0	0	0.021553	0	6	75				
MDGA1	266727	broad.mit.edu	37	6	37622222	37622222	+	Silent	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622222G>T	uc003onu.1	-	6	1989	c.810C>A	c.(808-810)CTC>CTA	p.L270L	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	270	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						GCAGCTGGGGGAGGGGATCAC	0.647		NaN											1	0	7.45023e-12	0.010504	8.19525e-12	22	41				
MDGA1	266727	broad.mit.edu	37	6	37622284	37622284	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:37622284G>C	uc003onu.1	-	6	1927	c.748C>G	c.(748-750)CTG>GTG	p.L250V	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	250	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TTCACCACCAGAGTTTCGTTC	0.617		NaN											0	0	0	0.010771	0	43	78				
TREM1	54210	broad.mit.edu	37	6	41254347	41254347	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:41254347G>A	uc003oqf.1	-	1	111	c.47C>T	c.(46-48)TCA>TTA	p.S16L	TREM1_uc003oqg.1_Missense_Mutation_p.S16L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	16					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGTCTTACCTGAGACAAAGAG	0.577		NaN											0	0	0	0.006214	0	10	79				
TDRD6	221400	broad.mit.edu	37	6	46660807	46660807	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:46660807C>G	uc003oyj.2	+	1	4942	c.4942C>G	c.(4942-4944)CAA>GAA	p.Q1648E	TDRD6_uc010jze.2_Missense_Mutation_p.Q1642E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1648					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATTATGTTCTCAAGAGGGAAA	0.383		NaN											0	0	0	0.020292	0	14	104				
DST	667	broad.mit.edu	37	6	56391242	56391242	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56391242C>T	uc003pdf.2	-	63	11717	c.11689G>A	c.(11689-11691)GAC>AAC	p.D3897N	DST_uc003pcz.3_Missense_Mutation_p.D3719N|DST_uc011dxj.1_Missense_Mutation_p.D3748N|DST_uc011dxk.1_Missense_Mutation_p.D3759N|DST_uc003pcy.3_Missense_Mutation_p.D3393N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5805					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGCTCATTGTCCTCAGCTACC	0.493		NaN											0	0	0	0.013726	0	35	127				
DST	667	broad.mit.edu	37	6	56420230	56420230	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:56420230G>T	uc003pdf.2	-	54	8720	c.8692C>A	c.(8692-8694)CTG>ATG	p.L2898M	DST_uc003pcz.3_Missense_Mutation_p.L2720M|DST_uc011dxj.1_Missense_Mutation_p.L2749M|DST_uc011dxk.1_Missense_Mutation_p.L2760M|DST_uc003pcy.3_Missense_Mutation_p.L2394M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4806					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTAACCAGTGCTGACAAA	0.408		NaN											1	0	4.11147e-13	0.017118	4.60387e-13	33	70				
ZNF451	26036	broad.mit.edu	37	6	57012841	57012841	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:57012841G>C	uc003pdm.1	+	10	2182	c.1958G>C	c.(1957-1959)CGA>CCA	p.R653P	ZNF451_uc003pdl.2_Missense_Mutation_p.R653P|ZNF451_uc003pdn.1_Missense_Mutation_p.R653P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R653P	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	653	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACATTGTACCGACATTGCCAA	0.373		NaN											0	0	0	0.01441	0	57	84				
CASP8AP2	9994	broad.mit.edu	37	6	90573429	90573429	+	Silent	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:90573429T>A	uc003pnr.2	+	7	2197	c.2001T>A	c.(1999-2001)ACT>ACA	p.T667T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T667T|CASP8AP2_uc011dzz.1_Silent_p.T667T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	667					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGACAATACTATGCATTGTG	0.418		NaN											0	0	0	0.010504	0	20	11				
PLEKHG1	57480	broad.mit.edu	37	6	151130805	151130805	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:151130805C>T	uc003qny.1	+	11	1525	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	PLEKHG1_uc011eel.1_Missense_Mutation_p.R445C|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464C|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405C	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	405	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAAGACAAACGCCTCTGGGT	0.473		NaN											0	0	0	0.020292	0	15	27				
SYNE1	23345	broad.mit.edu	37	6	152551705	152551705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:152551705G>A	uc010kiw.2	-	115	21774	c.21172C>T	c.(21172-21174)CAA>TAA	p.Q7058*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6987*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q7058*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058	Cytoplasmic (Potential).|Spectrin 22.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTGCATTTTGAACAGAAGCC	0.388		NaN								HNSCC(10;0.0054)			0	0	0	0.007413	0	15	120				
PLEKHA8	84725	broad.mit.edu	37	7	30094400	30094400	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:30094400C>G	uc003tam.1	+	8	963	c.872C>G	c.(871-873)TCA>TGA	p.S291*	PLEKHA8_uc003tao.2_Nonsense_Mutation_p.S175*|PLEKHA8_uc003tap.1_Nonsense_Mutation_p.S291*|PLEKHA8_uc003tan.2_Nonsense_Mutation_p.S291*	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	291					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CAGTCTGGATCAGACTCAAGT	0.388		NaN											0	0	0	0.014323	0	22	68				
PKD1L1	168507	broad.mit.edu	37	7	47930253	47930253	+	Silent	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:47930253T>C	uc003tny.1	-	16	2562	c.2562A>G	c.(2560-2562)CAA>CAG	p.Q854Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	854	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CACTGAGCCATTGTGCCTCAA	0.602		NaN											0	0	0	0.004482	0	9	41				
ZNF107	51427	broad.mit.edu	37	7	64168367	64168367	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:64168367A>T	uc003ttd.2	+	7	2471	c.1685A>T	c.(1684-1686)AAC>ATC	p.N562I	ZNF107_uc003tte.2_Missense_Mutation_p.N562I	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	562	C2H2-type 18; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAAGTTTTTAACCAGTCCTCA	0.348		NaN											0	0	0	0.009535	0	32	50				
ZNF804B	219578	broad.mit.edu	37	7	88965564	88965564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:88965564G>C	uc011khi.1	+	4	3806	c.3268G>C	c.(3268-3270)GAG>CAG	p.E1090Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1090						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATTCAACAGAGACCCAAGA	0.363		NaN								HNSCC(36;0.09)			0	0	0	0.00499	0	18	49				
CADPS2	93664	broad.mit.edu	37	7	122261661	122261661	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:122261661C>T	uc010lkp.2	-	5	1141	c.978G>A	c.(976-978)TCG>TCA	p.S326S	CADPS2_uc003vkg.3_Silent_p.S26S|CADPS2_uc010lkq.2_Silent_p.S326S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	326					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GACCACCTTTCGAAACTGGAA	0.368		NaN											0	0	0	0.028581	0	17	69				
ZC3HC1	51530	broad.mit.edu	37	7	129680811	129680811	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:129680811G>T	uc003vpi.2	-	3	416	c.389C>A	c.(388-390)CCA>CAA	p.P130Q	ZC3HC1_uc003vph.2_Missense_Mutation_p.P17Q|ZC3HC1_uc010lma.2_Missense_Mutation_p.P17Q	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	130	C3HC-type.				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					GTCAAAAGCTGGTTGTAAACT	0.418		NaN											1	0	8.88839e-20	0.010818	1.01971e-19	32	129				
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:150171609G>A	uc003whj.2	+	4	1522	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443		NaN											0	0	0	0.016522	0	24	110				
DPP6	1804	broad.mit.edu	37	7	154595651	154595651	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr7:154595651G>C	uc003wlk.2	+	14	1614	c.1485G>C	c.(1483-1485)GAG>GAC	p.E495D	DPP6_uc003wli.2_Missense_Mutation_p.E431D|DPP6_uc003wlm.2_Missense_Mutation_p.E433D|DPP6_uc011kvq.1_Missense_Mutation_p.E388D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	495	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTACGATGAGAAGGGGAATA	0.502		NaN											0	0	0	0.009096	0	4	12				
ADRA1A	148	broad.mit.edu	37	8	26628136	26628136	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:26628136C>T	uc003xfh.1	-	2	1367	c.931G>A	c.(931-933)GTA>ATA	p.V311I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V311I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V311I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V311I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	311	Helical; Name=7; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V311I(1)		breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGCCAAAATACTATTTTAAAA	0.393		NaN											0	0	0	0.007413	0	19	62				
FZD3	7976	broad.mit.edu	37	8	28384671	28384671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:28384671G>A	uc003xgx.2	+	5	872	c.394G>A	c.(394-396)GAT>AAT	p.D132N	FZD3_uc010lvb.2_Missense_Mutation_p.D132N	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	132	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGGTTCCCAGATTGTGATGA	0.423		NaN											0	0	0	0.009535	0	26	81				
TRPA1	8989	broad.mit.edu	37	8	72946563	72946563	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72946563T>A	uc003xza.2	-	22	2780	c.2605A>T	c.(2605-2607)ACT>TCT	p.T869S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	869	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTCAACAAAGTTTTCAAAATT	0.294		NaN											0	0	0	0.016723	0	14	53				
TRPA1	8989	broad.mit.edu	37	8	72964852	72964852	+	Missense_Mutation	SNP	G	G	A	rs147715599		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:72964852G>A	uc003xza.2	-	14	1968	c.1793C>T	c.(1792-1794)ACG>ATG	p.T598M	uc011lff.1_RNA|uc003xyy.2_RNA	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	598	ANK 15.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCTGATGATCGTAAGAACAAC	0.448		NaN											0	0	0	0.016522	0	24	72				
VPS13B	157680	broad.mit.edu	37	8	100866463	100866463	+	Missense_Mutation	SNP	G	G	T	rs149659649	byFrequency	TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:100866463G>T	uc003yiv.2	+	56	11032	c.10921G>T	c.(10921-10923)GCT>TCT	p.A3641S	VPS13B_uc003yiw.2_Missense_Mutation_p.A3616S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3641					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTATGCCGCTGGGGCCCT	0.552		NaN											1	0	2.37509e-13	0.010504	2.67556e-13	22	17				
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:102213947A>T	uc003yka.2	-	3	438	c.23T>A	c.(22-24)ATT>AAT	p.I8N	ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	8						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393		NaN											0	0	0	0.010729	0	8	36				
OPLAH	26873	broad.mit.edu	37	8	145113243	145113243	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr8:145113243G>A	uc003zar.3	-	7	930	c.848C>T	c.(847-849)TCC>TTC	p.S283F	OPLAH_uc003zat.1_Missense_Mutation_p.S61F	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	283							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACAGCACTGGAGCCGCTGAA	0.687		NaN											0	0	0	0.009096	0	4	10				
TAF1L	138474	broad.mit.edu	37	9	32633772	32633772	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:32633772G>A	uc003zrg.1	-	1	1896	c.1806C>T	c.(1804-1806)ACC>ACT	p.T602T	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	602					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCTCCAAAGGTGCCCCGAA	0.483		NaN											0	0	0	0.01441	0	55	126				
ABCA1	19	broad.mit.edu	37	9	107580989	107580989	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:107580989G>A	uc004bcl.2	-	23	3730	c.3417C>T	c.(3415-3417)CTC>CTT	p.L1139L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1139					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCAGGAACTGAGGGAGGATT	0.537		NaN											0	0	0	0.021553	0	6	84				
SVEP1	79987	broad.mit.edu	37	9	113149637	113149637	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:113149637T>C	uc010mtz.2	-	42	10325	c.9988A>G	c.(9988-9990)AGT>GGT	p.S3330G	SVEP1_uc010mty.2_Missense_Mutation_p.S1256G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3330	Sushi 32.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCTTCAAGACTGTAGCCTCTG	0.483		NaN											0	0	0	0.006122	0	19	50				
SPTAN1	6709	broad.mit.edu	37	9	131388859	131388859	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:131388859G>A	uc004bvl.3	+	48	6567	c.6454G>A	c.(6454-6456)GAG>AAG	p.E2152K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E2157K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2132K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2152	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCAGCTGGCCGAGCTGGACCG	0.597		NaN											0	0	0	0.013537	0	13	36				
COL5A1	1289	broad.mit.edu	37	9	137710579	137710579	+	Silent	SNP	G	G	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:137710579G>A	uc004cfe.2	+	55	4690	c.4308G>A	c.(4306-4308)CCG>CCA	p.P1436P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1436	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCCGGACCGGATGGCCTTC	0.697		NaN											0	0	0	0.014758	0	4	12				
NOTCH1	4851	broad.mit.edu	37	9	139393627	139393627	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139393627C>T	uc004chz.2	-	32	6019	c.6019G>A	c.(6019-6021)GTG>ATG	p.V2007M		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2007	ANK 3.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCCCTCCACGGCCAGGCGG	0.657		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.006122	0	18	27				
C9orf172	389813	broad.mit.edu	37	9	139739888	139739888	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr9:139739888C>T	uc011meh.1	+	1	1022	c.1022C>T	c.(1021-1023)TCC>TTC	p.S341F	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	341	Pro-rich.										0						GAACCGCCCTCCCGCTCCTAC	0.701		NaN											0	0	0	0.014758	0	5	17				
NLGN4X	57502	broad.mit.edu	37	X	6069450	6069450	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:6069450T>A	uc010ndh.2	-	2	559	c.58A>T	c.(58-60)ATG>TTG	p.M20L	NLGN4X_uc004crp.2_Missense_Mutation_p.M20L|NLGN4X_uc004crq.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndi.2_Missense_Mutation_p.M20L|NLGN4X_uc004crr.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndj.2_Missense_Mutation_p.M20L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	20					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GAGTTTAACATGACGCAGACC	0.498		NaN											0	0	0	0.027356	0	25	13				
CXorf66	347487	broad.mit.edu	37	X	139038603	139038603	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrX:139038603C>T	uc004fbb.2	-	3	560	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	180	Cytoplasmic (Potential).					integral to membrane					0						TGTGCCTTTTCCAGGTGAGAT	0.413		NaN											0	0	0	0.01441	0	65	149				
PCDH11Y	83259	broad.mit.edu	37	Y	4968004	4968004	+	Silent	SNP	C	C	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chrY:4968004C>T	uc004fqo.2	+	2	3119	c.2385C>T	c.(2383-2385)TTC>TTT	p.F795F	PCDH11Y_uc010nwg.1_Silent_p.F784F|PCDH11Y_uc004fql.1_Silent_p.F784F|PCDH11Y_uc004fqm.1_Silent_p.F784F|PCDH11Y_uc004fqn.1_Silent_p.F795F|PCDH11Y_uc004fqp.1_Silent_p.F566F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	795	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ATTCTCTCTTCAGTGTTGTAA	0.423		NaN											0	0	0	0.010729	0	8	130				
SAMD11	148398	broad.mit.edu	37	1	878746	878746	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:878746G>C	uc001abw.1	+	12	1758	c.1678G>C	c.(1678-1680)GAG>CAG	p.E560Q	SAMD11_uc001abx.1_Missense_Mutation_p.E423Q	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	560	SAM.					nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGGCTGTGGAGAGTACACTCG	0.657		NaN											0	0	0	0.013537	0	11	37				
AGRN	375790	broad.mit.edu	37	1	970701	970701	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:970701G>A	uc001ack.1	+	3	558	c.508G>A	c.(508-510)GAT>AAT	p.D170N		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	170					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACGCCTCCTGATGGTGAGTA	0.597		NaN											0	0	0	0.003954	0	22	113				
CCDC27	148870	broad.mit.edu	37	1	3672032	3672032	+	Missense_Mutation	SNP	G	G	A	rs139820400		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:3672032G>A	uc001akv.2	+	3	535	c.454G>A	c.(454-456)GAG>AAG	p.E152K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	152										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCACCCACTGAGGCCGATTT	0.552		NaN											0	0	0	0.01441	0	121	235				
CHD5	26038	broad.mit.edu	37	1	6181225	6181225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:6181225G>A	uc001amb.1	-	33	4952	c.4852C>T	c.(4852-4854)CGA>TGA	p.R1618*	CHD5_uc001alz.1_Nonsense_Mutation_p.R475*|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1618					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGCTCCTCTCGGGCTCTCTCC	0.647		NaN											0	0	0	0.001984	0	7	16				
ICMT	23463	broad.mit.edu	37	1	6291999	6291999	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:6291999G>A	uc001amk.2	-	4	708	c.635C>T	c.(634-636)TCT>TTT	p.S212F	ICMT_uc001aml.2_Missense_Mutation_p.S116F	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	212					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCGACGTAAGAAGGATGCCG	0.348		NaN											0	0	0	0.004656	0	22	47				
KIF1B	23095	broad.mit.edu	37	1	10335485	10335485	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:10335485G>C	uc001aqx.3	+	11	1085	c.883_splice	c.e11-1	p.S295_splice	KIF1B_uc001aqv.3_Splice_Site_p.S289_splice|KIF1B_uc001aqw.3_Splice_Site_p.S289_splice|KIF1B_uc001aqy.2_Splice_Site_p.S295_splice|KIF1B_uc001aqz.2_Splice_Site_p.S295_splice|KIF1B_uc001ara.2_Splice_Site_p.S295_splice|KIF1B_uc001arb.2_Splice_Site_p.S295_splice	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTTTAATAGAGTAAAAAGA	0.323		NaN											0	0	0	0.008291	0	11	66				
LOC440563	440563	broad.mit.edu	37	1	13183488	13183488	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:13183488G>C	uc010obg.1	-	1	480	c.385C>G	c.(385-387)CGT>GGT	p.R129G		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	129						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						GGAGGTACACGTGCTGGGAAA	0.512		NaN											0	0	0	0.01441	0	58	291				
PADI4	23569	broad.mit.edu	37	1	17681136	17681136	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:17681136G>A	uc001baj.2	+	11	1292	c.1264G>A	c.(1264-1266)GAA>AAA	p.E422K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	422					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CAGGGGCAAGGAATACCCGCT	0.572		NaN											0	0	0	0.010504	0	20	18				
PLA2G2E	30814	broad.mit.edu	37	1	20249137	20249137	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:20249137G>C	uc001bct.1	-	2	210	c.152C>G	c.(151-153)TCC>TGC	p.S51C		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	51					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCAGTGGGAGCCACCGAT	0.612		NaN											0	0	0	0.013537	0	13	80				
HSPG2	3339	broad.mit.edu	37	1	22178416	22178416	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:22178416G>A	uc001bfj.2	-	54	6914	c.6874C>T	c.(6874-6876)CGT>TGT	p.R2292C	HSPG2_uc009vqd.2_Missense_Mutation_p.R2293C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2292	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGGAGCCACGAACCTGGGCA	0.672		NaN											0	0	0	0.001984	0	7	14				
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	T	rs143590918		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:28477482G>T	uc001bpl.2	-	2	178	c.51C>A	c.(49-51)CTC>CTA	p.L17L	PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17	Helical; Name=1; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527		NaN											1	0	0.000673444	0.008291	0.0006841	8	49				
DLGAP3	58512	broad.mit.edu	37	1	35331860	35331860	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:35331860G>A	uc001byc.2	-	10	2764	c.2764C>T	c.(2764-2766)CGG>TGG	p.R922W		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	922					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCCCGGCCCCGCAGGGGCTTC	0.716		NaN									OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	11				
TFAP2E	339488	broad.mit.edu	37	1	36056363	36056363	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:36056363C>A	uc010ohy.1	+	6	1241	c.1033C>A	c.(1033-1035)CTG>ATG	p.L345M	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	345	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAAGAGCATGCTGCTGGCTGC	0.612		NaN											1	0	0.00024832	0.009096	0.000253452	3	18				
MACF1	23499	broad.mit.edu	37	1	39893741	39893741	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:39893741G>A	uc010oiu.1	+	27	12036	c.11905G>A	c.(11905-11907)GAA>AAA	p.E3969K	MACF1_uc010ois.1_Missense_Mutation_p.E3467K|MACF1_uc001cda.1_Missense_Mutation_p.E3354K|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5534	Spectrin 8.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGCTGTCAGAAAAGATAGA	0.498		NaN											0	0	0	0.000602	0	5	66				
HIVEP3	59269	broad.mit.edu	37	1	42049173	42049173	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:42049173C>T	uc001cgz.3	-	4	2509	c.1296G>A	c.(1294-1296)CTG>CTA	p.L432L	HIVEP3_uc001cha.3_Silent_p.L432L|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	432	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTGGCTGTCAGCATGGCGG	0.617		NaN											0	0	0	0.003163	0	15	33				
MPL	4352	broad.mit.edu	37	1	43805111	43805111	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:43805111G>A	uc001ciw.2	+	4	606	c.561G>A	c.(559-561)CTG>CTA	p.L187L	MPL_uc001civ.2_Silent_p.L187L|MPL_uc009vwr.2_Silent_p.L180L	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	187	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCATACAGCTGATTGCCACAG	0.577		NaN	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						0	0	0	0.007835	0	41	75				
IPP	3652	broad.mit.edu	37	1	46182672	46182672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:46182672C>T	uc001cou.2	-	7	1471	c.1204G>A	c.(1204-1206)GAG>AAG	p.E402K	IPP_uc001cos.3_Missense_Mutation_p.E402K	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	402	Kelch 3.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TTCCCTATCTCAGCTCCAACC	0.323		NaN											0	0	0	0.010729	0	11	98				
CYP4A11	1579	broad.mit.edu	37	1	47406995	47406995	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:47406995G>A	uc001cqp.3	-	1	162	c.111C>T	c.(109-111)CTC>CTT	p.L37L	CYP4A11_uc001cqq.2_Silent_p.L37L|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	37					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	TGTGCAGGTAGAGCTGAACTG	0.602		NaN											0	0	0	0.001984	0	7	130				
FOXD2	2306	broad.mit.edu	37	1	47904552	47904552	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:47904552G>A	uc001crm.2	+	1	2864	c.745G>A	c.(745-747)GCG>ACG	p.A249T		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	249	Ala-rich.|Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		cggggccgcggcggcgggggA	0.617		NaN											0	0	0	0.008291	0	11	5				
LRP8	7804	broad.mit.edu	37	1	53755276	53755276	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:53755276C>T	uc001cvi.1	-	3	472	c.330G>A	c.(328-330)GAG>GAA	p.E110E	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Silent_p.E110E|LRP8_uc001cvj.1_Silent_p.E110E|LRP8_uc001cvl.1_Silent_p.E110E	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	110	LDL-receptor class A 2.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CATCAGGACACTCCTCCTCGC	0.592		NaN											0	0	0	0.000602	0	5	14				
CDCP2	200008	broad.mit.edu	37	1	54606823	54606823	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:54606823G>C	uc001cwv.1	-	3	1559	c.711C>G	c.(709-711)TTC>TTG	p.F237L		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	237	CUB 2.					extracellular region				ovary(1)	1						AGTCGGACTTGAAGACCACCT	0.547		NaN											0	0	0	0.004482	0	8	48				
DAB1	1600	broad.mit.edu	37	1	57489208	57489208	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:57489208G>A	uc001cys.1	-	13	1565	c.891C>T	c.(889-891)CCC>CCT	p.P297P	DAB1_uc001cyt.1_Silent_p.P295P|DAB1_uc001cyq.1_Silent_p.P295P|DAB1_uc001cyr.1_Silent_p.P211P|DAB1_uc009vzw.1_Silent_p.P279P|DAB1_uc009vzx.1_Silent_p.P297P	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	330					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GCTTACCTGAGGGTACAGCAG	0.493		NaN											0	0	0	0.001984	0	7	11				
C1orf87	127795	broad.mit.edu	37	1	60505607	60505607	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:60505607C>A	uc001czs.1	-	5	821	c.729G>T	c.(727-729)AAG>AAT	p.K243N		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	243							calcium ion binding			ovary(1)|breast(1)	2						GAGAACCCCTCTTAGAAAATC	0.408		NaN											1	0	4.35082e-09	0.010504	4.58658e-09	21	122				
INADL	10207	broad.mit.edu	37	1	62237176	62237176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:62237176C>T	uc001dab.2	+	6	712	c.598C>T	c.(598-600)CAG>TAG	p.Q200*	INADL_uc009waf.1_Nonsense_Mutation_p.Q200*|INADL_uc001daa.2_Nonsense_Mutation_p.Q200*|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	200	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CATTTCCCATCAGCAAGCAAT	0.373		NaN											0	0	0	0.000602	0	5	59				
INSL5	10022	broad.mit.edu	37	1	67266883	67266883	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:67266883G>C	uc001dcw.2	-	1	57	c.22C>G	c.(22-24)CTG>GTG	p.L8V		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	insulin-like 5 precursor	8						extracellular region	hormone activity				0						AATAAAAACAGAGTGAAAATG	0.418		NaN											0	0	0	0.009096	0	4	32				
C1orf173	127254	broad.mit.edu	37	1	75097549	75097549	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:75097549G>C	uc001dgg.2	-	7	886	c.667C>G	c.(667-669)CAA>GAA	p.Q223E	C1orf173_uc001dgi.3_Missense_Mutation_p.Q17E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	223										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TTTGGAAGTTGATATGAATTC	0.403		NaN											0	0	0	0.005524	0	37	48				
EPHX4	253152	broad.mit.edu	37	1	92528691	92528691	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:92528691G>A	uc001don.2	+	7	1041	c.937G>A	c.(937-939)GAG>AAG	p.E313K		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	313						integral to membrane	hydrolase activity			central_nervous_system(1)	1						CATGGAGGTTGAGATGGCTGA	0.418		NaN											0	0	0	0.01441	0	52	81				
RPAP2	79871	broad.mit.edu	37	1	92799022	92799022	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:92799022G>C	uc001dot.2	+	9	1639	c.1530G>C	c.(1528-1530)TTG>TTC	p.L510F	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	510						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTGAAAAGTTGAGTAAAGTGT	0.333		NaN											0	0	0	0.001984	0	5	70				
EVI5	7813	broad.mit.edu	37	1	93170221	93170221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:93170221G>A	uc001dox.2	-	3	372	c.362C>T	c.(361-363)TCA>TTA	p.S121L	EVI5_uc010otf.1_Missense_Mutation_p.S121L	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	121	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AGAGGCTGATGAACTCGACAC	0.363		NaN											0	0	0	0.006214	0	9	127				
SNX7	51375	broad.mit.edu	37	1	99161250	99161250	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:99161250G>C	uc010ouc.1	+	5	868	c.816G>C	c.(814-816)CAG>CAC	p.Q272H	SNX7_uc001dsa.2_Missense_Mutation_p.Q208H|SNX7_uc010oud.1_Missense_Mutation_p.Q217H	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a	208					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AAATATCTCAGAGAATTTATA	0.313		NaN											0	0	0	0.001168	0	6	93				
S1PR1	1901	broad.mit.edu	37	1	101704981	101704981	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:101704981G>A	uc001dud.2	+	2	955	c.441G>A	c.(439-441)CTG>CTA	p.L147L	S1PR1_uc009weg.2_Silent_p.L147L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	147	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TCACAATGCTGAAAATGAAAC	0.557		NaN									OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	47	52				
STXBP3	6814	broad.mit.edu	37	1	109339276	109339276	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:109339276G>A	uc001dvy.2	+	15	1359	c.1284G>A	c.(1282-1284)CAG>CAA	p.Q428Q	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	428					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGTTGATCCAGAATGTAAAGA	0.353		NaN											0	0	0	0.001984	0	6	62				
AKNAD1	254268	broad.mit.edu	37	1	109359687	109359687	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:109359687C>T	uc001dwa.2	-	15	2631	c.2362G>A	c.(2362-2364)GAA>AAA	p.E788K	AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	788										ovary(3)	3						TTTATTTCTTCAGTGCTATCA	0.443		NaN											0	0	0	0.007291	0	30	56				
GSTM3	2947	broad.mit.edu	37	1	110280351	110280351	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:110280351A>T	uc001dyo.2	-	7	705	c.395T>A	c.(394-396)TTG>TAG	p.L132*	GSTM3_uc001dyp.2_Nonsense_Mutation_p.L129*|GSTM3_uc010ovv.1_Nonsense_Mutation_p.L132*	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	132	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TAGCTCTTCCAAGTACTGAGG	0.433		NaN											0	0	0	0.01441	0	45	93				
CHIA	27159	broad.mit.edu	37	1	111862083	111862083	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:111862083G>A	uc001eas.2	+	11	1273	c.1170G>A	c.(1168-1170)CAG>CAA	p.Q390Q	CHIA_uc001ear.2_Silent_p.Q282Q|CHIA_uc001eaq.2_Silent_p.Q282Q|CHIA_uc009wgc.2_Silent_p.Q282Q|CHIA_uc001eat.2_Silent_p.Q229Q|CHIA_uc001eav.2_Silent_p.Q229Q|CHIA_uc001eau.2_Silent_p.Q229Q|CHIA_uc009wgd.2_Silent_p.Q229Q	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	390					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCGGCCTGCAGAGTGCAAGTA	0.542		NaN											0	0	0	0.003954	0	24	29				
PDE4DIP	9659	broad.mit.edu	37	1	144879302	144879302	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:144879302G>A	uc001elw.3	-	27	4439	c.4148C>T	c.(4147-4149)TCA>TTA	p.S1383L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1339L|PDE4DIP_uc001elv.3_Missense_Mutation_p.S390L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1383	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTGTAACTGAGAGGGACCG	0.502		NaN	T	PDGFRB	MPD								0	0	0	0.01441	0	58	220				
NBPF10	100132406	broad.mit.edu	37	1	145296564	145296564	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:145296564C>G	uc001end.3	+	3	521	c.486C>G	c.(484-486)CTC>CTG	p.L162L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L162L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	162											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCCAAAAGCTCAGCCCAGGTA	0.572		NaN											0	0	0	0.006122	0	13	228				
HIST2H2AB	317772	broad.mit.edu	37	1	149859417	149859417	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:149859417G>C	uc001ete.2	-	1	50	c.50C>G	c.(49-51)TCG>TGG	p.S17W	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	17					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGCGCGACTTGGCCTT	0.622		NaN											0	0	0	0.014323	0	20	102				
ZNF687	57592	broad.mit.edu	37	1	151262298	151262298	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:151262298G>A	uc001exq.2	+	6	2877	c.2779G>A	c.(2779-2781)GAA>AAA	p.E927K	ZNF687_uc009wmo.2_Missense_Mutation_p.E927K|ZNF687_uc009wmp.2_Missense_Mutation_p.E927K	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	927	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCATCTTCAGAAGAGGAGGA	0.667		NaN											0	0	0	0.004672	0	3	5				
SLC27A3	11000	broad.mit.edu	37	1	153748380	153748380	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:153748380G>A	uc001fcz.2	+	1	613	c.548G>A	c.(547-549)GGA>GAA	p.G183E	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	183					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGCGCCGGGAGCCGGAGAT	0.741		NaN											0	0	0	0.001168	0	5	15				
CRTC2	200186	broad.mit.edu	37	1	153923847	153923847	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:153923847G>T	uc010ped.1	-	11	1363	c.1293C>A	c.(1291-1293)CCC>CCA	p.P431P	CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	431					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGCTGAGGGGCACACGGC	0.557		NaN											1	0	2.7689e-08	0.001984	2.90938e-08	7	24				
PMVK	10654	broad.mit.edu	37	1	154898934	154898934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:154898934G>A	uc001ffq.2	-	4	661	c.338C>T	c.(337-339)TCT>TTT	p.S113F		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	113					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGGATGTCAGACACTCTCCG	0.607		NaN											0	0	0	0.006122	0	18	20				
OR10R2	343406	broad.mit.edu	37	1	158450384	158450384	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:158450384C>T	uc010pik.1	+	1	717	c.717C>T	c.(715-717)CTC>CTT	p.L239L	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TTTCTTATCTCTGCATTCTGA	0.428		NaN											0	0	0	0.001855	0	14	118				
AIM2	9447	broad.mit.edu	37	1	159035839	159035839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:159035839C>T	uc001ftj.1	-	4	922	c.677G>A	c.(676-678)CGT>CAT	p.R226H		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	226	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)					ATCTAACACACGTGAGGCGCT	0.393		NaN											0	0	0	0.01441	0	59	108				
NCSTN	23385	broad.mit.edu	37	1	160318836	160318836	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:160318836G>A	uc001fvx.2	+	3	362	c.238G>A	c.(238-240)GAG>AAG	p.E80K	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.E60K|NCSTN_uc010pjf.1_Missense_Mutation_p.E80K|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	80	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGAAAGAGGAGGACCTACA	0.463		NaN											0	0	0	0.012319	0	22	68				
NCSTN	23385	broad.mit.edu	37	1	160319451	160319451	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:160319451G>A	uc001fvx.2	+	4	551	c.427G>A	c.(427-429)GAT>AAT	p.D143N	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.D123N|NCSTN_uc010pjf.1_Missense_Mutation_p.D143N|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	143	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCCCAAATGATGGGTTTGG	0.507		NaN											0	0	0	0.006122	0	18	25				
DUSP12	11266	broad.mit.edu	37	1	161726695	161726695	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:161726695G>T	uc001gbo.2	+	6	992	c.981G>T	c.(979-981)ATG>ATT	p.M327I	DUSP12_uc001gbp.2_Missense_Mutation_p.M197I	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	327					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGGATGAAATGAAAATATTGC	0.388		NaN											1	0	4.14922e-12	0.004007	4.46197e-12	16	81				
ALDH9A1	223	broad.mit.edu	37	1	165648806	165648806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:165648806G>T	uc001gdh.1	-	6	908	c.803C>A	c.(802-804)TCA>TAA	p.S268*	ALDH9A1_uc010pky.1_Nonsense_Mutation_p.S174*|ALDH9A1_uc010pkz.1_Nonsense_Mutation_p.S258*|ALDH9A1_uc010pla.1_Nonsense_Mutation_p.S174*	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	244					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TCCTTTAGCTGACATCTCCAT	0.413		NaN											1	0	3.65163e-15	0.00632	3.96004e-15	25	154				
POGK	57645	broad.mit.edu	37	1	166810266	166810266	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:166810266G>A	uc001gdt.1	+	2	193	c.73G>A	c.(73-75)GAA>AAA	p.E25K	POGK_uc010ple.1_5'UTR|POGK_uc010plf.1_5'UTR	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	25	Potential.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TCAGAGCCGGGAACTAGAGGA	0.517		NaN											0	0	0	0.009718	0	45	88				
C1orf129	80133	broad.mit.edu	37	1	170959046	170959046	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:170959046T>C	uc001ghg.2	+	11	1060	c.930T>C	c.(928-930)TGT>TGC	p.C310C	C1orf129_uc009wvy.2_Silent_p.C117C|C1orf129_uc010plz.1_Silent_p.C310C	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	310							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATAACAATTGTATGAAGGATG	0.423		NaN											0	0	0	0.01441	0	65	108				
C1orf129	80133	broad.mit.edu	37	1	170965666	170965666	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:170965666G>C	uc001ghg.2	+	14	1486	c.1356G>C	c.(1354-1356)CTG>CTC	p.L452L	C1orf129_uc009wvy.2_Silent_p.L259L|C1orf129_uc010plz.1_Silent_p.L452L	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	452							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGATGCCCTGAGAGTTCTGC	0.418		NaN											0	0	0	0.010504	0	20	109				
KLHL20	27252	broad.mit.edu	37	1	173703360	173703360	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:173703360G>A	uc001gjc.2	+	3	711	c.532G>A	c.(532-534)GAC>AAC	p.D178N	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.D160N|KLHL20_uc001gjd.2_Missense_Mutation_p.D178N	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	178	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GGCTTTTGCTGACACACATTC	0.463		NaN											0	0	0	0.001984	0	6	80				
PAPPA2	60676	broad.mit.edu	37	1	176681100	176681100	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:176681100G>A	uc001gkz.2	+	12	4945	c.3781G>A	c.(3781-3783)GAT>AAT	p.D1261N	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1261					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GAAGAAAGAGGATGAGGTTTG	0.398		NaN											0	0	0	0.001984	0	6	78				
TOR1AIP1	26092	broad.mit.edu	37	1	179887135	179887135	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:179887135G>C	uc001gnq.2	+	10	1731	c.1513G>C	c.(1513-1515)GAT>CAT	p.D505H		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	505	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						GGCCTTCAAAGATGTAGCCTT	0.428		NaN											0	0	0	0.00308	0	8	140				
APOBEC4	403314	broad.mit.edu	37	1	183616842	183616842	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:183616842C>T	uc001gqn.2	-	2	1347	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	359					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0						TTCTTCTTTTCATCTGCCTCC	0.408		NaN											0	0	0	0.00278	0	21	162				
HMCN1	83872	broad.mit.edu	37	1	186082010	186082010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:186082010G>A	uc001grq.1	+	72	11285	c.11056G>A	c.(11056-11058)GAT>AAT	p.D3686N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3686	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGACCTAGGTGATACAGCCAA	0.403		NaN											0	0	0	0.008871	0	21	74				
GPR37L1	9283	broad.mit.edu	37	1	202097339	202097339	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202097339C>T	uc001gxj.2	+	2	1164	c.1101C>T	c.(1099-1101)GTC>GTT	p.V367V		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	367	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						TGACCGTGGTCTACGCCTTCT	0.647		NaN											0	0	0	0.006214	0	9	113				
KDM5B	10765	broad.mit.edu	37	1	202700976	202700976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202700976C>T	uc001gyf.2	-	24	4117	c.4001G>A	c.(4000-4002)CGA>CAA	p.R1334Q	KDM5B_uc009xag.2_Missense_Mutation_p.R1370Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1176Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1334					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GATACAACTTCGTCCAGTTGA	0.408		NaN											0	0	0	0.001984	0	7	75				
KDM5B	10765	broad.mit.edu	37	1	202703015	202703015	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:202703015C>G	uc001gyf.2	-	23	3540	c.3424_splice	c.e23-1	p.M1142_splice	KDM5B_uc009xag.2_Splice_Site_p.M1178_splice|KDM5B_uc001gyg.1_Splice_Site_p.M984_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GAGTTGCCATCTGAAAAAGAG	0.418		NaN											0	0	0	0.012319	0	20	143				
RBBP5	5929	broad.mit.edu	37	1	205070807	205070807	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:205070807G>C	uc001hbu.1	-	6	683	c.553C>G	c.(553-555)CTT>GTT	p.L185V	RBBP5_uc010prd.1_Missense_Mutation_p.L220V|RBBP5_uc001hbv.1_Missense_Mutation_p.L185V|RBBP5_uc010pre.1_Missense_Mutation_p.L52V	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	185	WD 3.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GAAGCAACAAGATCCTGAGAA	0.393		NaN											0	0	0	0.01441	0	59	122				
C4BPA	722	broad.mit.edu	37	1	207314612	207314612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:207314612C>T	uc001hfo.2	+	10	1629	c.1435C>T	c.(1435-1437)CAA>TAA	p.Q479*		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	479	Sushi 7.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCAGCCCCTCAATGTAAAGG	0.463		NaN											0	0	0	0.008871	0	19	86				
EPRS	2058	broad.mit.edu	37	1	220208271	220208271	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:220208271C>T	uc001hly.1	-	3	486	c.216G>A	c.(214-216)CTG>CTA	p.L72L	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.L72L|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	72					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TATGTTCCATCAGATTAGAGC	0.363		NaN											0	0	0	0.01441	0	45	71				
C1orf198	84886	broad.mit.edu	37	1	231004195	231004195	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:231004195G>C	uc001hub.2	-	1	108	c.64C>G	c.(64-66)CTG>GTG	p.L22V	C1orf198_uc001huc.1_Intron|C1orf198_uc001hud.1_Intron	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	22											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGTCGTCCAGAGGCCGGTTC	0.567		NaN											0	0	0	0.001168	0	5	10				
WDR64	128025	broad.mit.edu	37	1	241951319	241951319	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:241951319G>A	uc001hzf.1	+	13	1656	c.1503G>A	c.(1501-1503)CTG>CTA	p.L501L	WDR64_uc001hzg.1_Silent_p.L414L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	948										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AATATCCTCTGATATTTGACC	0.358		NaN											0	0	0	0.005443	0	27	58				
HNRNPU	3192	broad.mit.edu	37	1	245019785	245019785	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:245019785G>C	uc001iaz.1	-	10	2104	c.1886C>G	c.(1885-1887)CCA>CGA	p.P629R	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.P353R|HNRNPU_uc001iba.1_Missense_Mutation_p.P610R|HNRNPU_uc001ibb.1_Missense_Mutation_p.P317R	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	629					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGCATGTTCTGGTAGGTCTTT	0.378		NaN											0	0	0	0.00278	0	20	137				
CNST	163882	broad.mit.edu	37	1	246810440	246810440	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:246810440G>A	uc001ibp.2	+	9	1316	c.938_splice	c.e9-1	p.E313_splice	CNST_uc001ibo.3_Splice_Site_p.E313_splice	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1						positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TTCATCTTTAGAGAGTAAAAC	0.383		NaN									OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	16	75				
C10orf18	54906	broad.mit.edu	37	10	5789126	5789126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:5789126G>A	uc001iij.2	+	15	4367	c.3742G>A	c.(3742-3744)GAA>AAA	p.E1248K	C10orf18_uc001iik.2_Missense_Mutation_p.E92K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1248										ovary(1)|central_nervous_system(1)	2						TCCAAACACTGAAAATATGAA	0.408		NaN											0	0	0	0.01441	0	48	83				
IL2RA	3559	broad.mit.edu	37	10	6104059	6104059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:6104059C>T	uc001iiz.1	-	1	215	c.56G>A	c.(55-57)TGC>TAC	p.C19Y	IL2RA_uc009xih.1_Missense_Mutation_p.C19Y	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	19					cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCTGCCTGGCAGCCAGGCAC	0.612		NaN											0	0	0	0.008291	0	9	87				
NSUN6	221078	broad.mit.edu	37	10	18940106	18940106	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:18940106C>G	uc010qcp.1	-	1	445	c.27G>C	c.(25-27)TTG>TTC	p.L9F		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	9							methyltransferase activity|RNA binding			ovary(2)	2						CCTCAGGTCTCAAAGATATCT	0.333		NaN											0	0	0	0.011902	0	41	81				
SVIL	6840	broad.mit.edu	37	10	29747377	29747377	+	Missense_Mutation	SNP	C	C	T	rs147020336		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:29747377C>T	uc001iut.1	-	37	7297	c.6544G>A	c.(6544-6546)GAC>AAC	p.D2182N	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D1096N|SVIL_uc001iuu.1_Missense_Mutation_p.D1756N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2182	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AAGTCTTCGTCGGTGAGATAG	0.597		NaN											0	0	0	0.000602	0	5	44				
ITGB1	3688	broad.mit.edu	37	10	33201009	33201009	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:33201009C>G	uc001iws.3	-	12	1649	c.1513G>C	c.(1513-1515)GAT>CAT	p.D505H	ITGB1_uc001iwp.3_Missense_Mutation_p.D505H|ITGB1_uc001iwq.3_Missense_Mutation_p.D505H|ITGB1_uc001iwr.3_Missense_Mutation_p.D505H|ITGB1_uc001iwt.3_Missense_Mutation_p.D505H|ITGB1_uc001iwu.1_Missense_Mutation_p.D505H	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	505	Extracellular (Potential).|I.|Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTAACTTCATCTGTGCTGCAT	0.398		NaN											0	0	0	0.013537	0	13	46				
GDF2	2658	broad.mit.edu	37	10	48413872	48413872	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:48413872C>T	uc001jfa.1	-	2	1159	c.996G>A	c.(994-996)CTG>CTA	p.L332L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	332					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						AGTTTACCCGCAGGGAGGTCT	0.612		NaN											0	0	0	0.00499	0	16	81				
FRMPD2	143162	broad.mit.edu	37	10	49440294	49440294	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:49440294G>A	uc001jgi.2	-	10	1139	c.1032C>T	c.(1030-1032)CTC>CTT	p.L344L	FRMPD2_uc001jgh.2_Silent_p.L313L|FRMPD2_uc001jgj.2_Silent_p.L322L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	344	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GGACCACACAGAGGTCCCTGA	0.383		NaN											0	0	0	0.008871	0	20	46				
OGDHL	55753	broad.mit.edu	37	10	50944540	50944540	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:50944540C>G	uc001jie.2	-	21	2759	c.2617G>C	c.(2617-2619)GAA>CAA	p.E873Q	OGDHL_uc009xog.2_Missense_Mutation_p.E900Q|OGDHL_uc010qgt.1_Missense_Mutation_p.E816Q|OGDHL_uc010qgu.1_Missense_Mutation_p.E664Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	873					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GCCCCATCTTCAGGAATCACC	0.637		NaN											0	0	0	0.007413	0	19	71				
NCOA4	8031	broad.mit.edu	37	10	51584673	51584673	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:51584673G>C	uc001jis.3	+	8	975	c.772G>C	c.(772-774)GAA>CAA	p.E258Q	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E274Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E274Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E158Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E92Q|NCOA4_uc001jit.2_Missense_Mutation_p.E258Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E258Q	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	258					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						AAAGGGCTTAGAAAACTGGCT	0.383		NaN	T	RET	papillary thyroid 								0	0	0	0.010504	0	21	107				
ANK3	288	broad.mit.edu	37	10	61926588	61926588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:61926588C>T	uc001jky.2	-	22	2737	c.2545G>A	c.(2545-2547)GAT>AAT	p.D849N	ANK3_uc001jkx.2_Missense_Mutation_p.D27N|ANK3_uc010qih.1_Missense_Mutation_p.D832N|ANK3_uc001jkz.3_Missense_Mutation_p.D843N|ANK3_uc001jlb.1_Missense_Mutation_p.D378N|ANK3_uc001jlc.1_Missense_Mutation_p.D510N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	849					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ATACCTTCATCATCAGACATA	0.333		NaN											0	0	0	0.004656	0	24	60				
SLC25A16	8034	broad.mit.edu	37	10	70276532	70276532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:70276532G>A	uc001joi.2	-	2	651	c.199C>T	c.(199-201)CAC>TAC	p.H67Y	SLC25A16_uc010qix.1_5'UTR|SLC25A16_uc010qiy.1_5'UTR|SLC25A16_uc001joj.2_5'UTR	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	67	Solcar 1.				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						TGGTGATTGTGAGCTTGTAAT	0.333		NaN											0	0	0	0.00245	0	15	33				
ANXA11	311	broad.mit.edu	37	10	81932588	81932588	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:81932588T>C	uc001kbq.1	-	4	855	c.30A>G	c.(28-30)CCA>CCG	p.P10P	ANXA11_uc010qlx.1_5'Flank|ANXA11_uc001kbr.1_Silent_p.P10P|ANXA11_uc001kbs.1_Silent_p.P10P|ANXA11_uc001kbt.1_Silent_p.P10P|ANXA11_uc010qly.1_5'UTR|ANXA11_uc009xsq.1_Silent_p.P10P|ANXA11_uc001kbu.1_Silent_p.P10P	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	10					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTAGCCACCTGGGGGCGGGG	0.617		NaN											0	0	0	0.009535	0	27	61				
BMPR1A	657	broad.mit.edu	37	10	88651946	88651946	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:88651946C>T	uc001kdy.2	+	5	841	c.293C>T	c.(292-294)TCA>TTA	p.S98L		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	98	Extracellular (Potential).				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						ACATTAGCTTCAGGGTGTATG	0.333		NaN	Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				0	0	0	0.004482	0	9	28				
IFIT2	3433	broad.mit.edu	37	10	91066692	91066692	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:91066692G>A	uc009xts.2	+	2	1154	c.979G>A	c.(979-981)GAT>AAT	p.D327N	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	327					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				GAAGAAAGCTGATGAGGCCAA	0.418		NaN											0	0	0	0.001168	0	6	58				
KIF20B	9585	broad.mit.edu	37	10	91469117	91469117	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:91469117C>T	uc001kgs.1	+	4	322	c.250C>T	c.(250-252)CTG>TTG	p.L84L	KIF20B_uc001kgr.1_Silent_p.L84L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	84	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						TGTGCATATTCTGGATTCACA	0.348		NaN											0	0	0	0.01441	0	61	44				
SORBS1	10580	broad.mit.edu	37	10	97096663	97096663	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:97096663G>A	uc001kkp.2	-	28	3299	c.3254C>T	c.(3253-3255)TCA>TTA	p.S1085L	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S1039L|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1085					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTGGATGCCTGAAGATGGCGT	0.562		NaN											0	0	0	0.000602	0	5	27				
SORBS1	10580	broad.mit.edu	37	10	97101052	97101052	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:97101052G>A	uc001kkp.2	-	26	2705	c.2660C>T	c.(2659-2661)TCC>TTC	p.S887F	SORBS1_uc001kkk.2_Missense_Mutation_p.S381F|SORBS1_uc001kkl.2_Missense_Mutation_p.S489F|SORBS1_uc001kkn.2_Missense_Mutation_p.S652F|SORBS1_uc001kkm.2_Missense_Mutation_p.S687F|SORBS1_uc001kko.2_Missense_Mutation_p.S909F|SORBS1_uc001kkq.2_Missense_Mutation_p.S738F|SORBS1_uc001kkr.2_Missense_Mutation_p.S593F|SORBS1_uc001kks.2_Missense_Mutation_p.S537F|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.S634F|SORBS1_uc001kkv.2_Missense_Mutation_p.S669F|SORBS1_uc001kkw.2_Missense_Mutation_p.S841F|SORBS1_uc010qoe.1_Missense_Mutation_p.S602F	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	887	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTTCTGAAGGACATTTCTAC	0.468		NaN											0	0	0	0.001168	0	6	98				
C10orf12	26148	broad.mit.edu	37	10	98742417	98742417	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:98742417G>C	uc001kmv.2	+	1	1377	c.1270G>C	c.(1270-1272)GAG>CAG	p.E424Q	C10orf12_uc009xvg.1_Missense_Mutation_p.E734Q	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	424										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTGAGGTTGAGTCTGGAGA	0.512		NaN											0	0	0	0.008291	0	10	150				
FAM178A	55719	broad.mit.edu	37	10	102689105	102689105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:102689105G>T	uc001krt.3	+	7	2616	c.2074G>T	c.(2074-2076)GAC>TAC	p.D692Y	FAM178A_uc001krs.2_Missense_Mutation_p.D692Y	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	692											0						ACTACAAGAAGACATAAGGCA	0.363		NaN											1	0	1.5739e-10	0.004007	1.67292e-10	16	10				
SEMA4G	57715	broad.mit.edu	37	10	102740934	102740934	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:102740934G>C	uc001krw.1	+	13	2037	c.1653G>C	c.(1651-1653)CTG>CTC	p.L551L	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Silent_p.L551L|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	546	Extracellular (Potential).|PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGACAGCACTGATACAGGACA	0.473		NaN											0	0	0	0.000602	0	5	35				
SFXN4	119559	broad.mit.edu	37	10	120923669	120923669	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr10:120923669C>G	uc001leb.2	-	2	196	c.151G>C	c.(151-153)GAT>CAT	p.D51H	SFXN4_uc001ldz.2_5'UTR|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	51					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TTTGTAGGATCTAATAATTCT	0.318		NaN											0	0	0	0.01441	0	49	30				
PSMA1	5682	broad.mit.edu	37	11	14529258	14529258	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:14529258C>T	uc001mlk.2	-	9	825	c.679G>A	c.(679-681)GAT>AAT	p.D227N	PSMA1_uc001mll.2_Missense_Mutation_p.D233N|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.D202N	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	227					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			upper_aerodigestive_tract(1)|skin(1)	2						GACACATCATCATCATCATAG	0.353		NaN											0	0	0	0.007291	0	26	21				
INSC	387755	broad.mit.edu	37	11	15199878	15199878	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:15199878A>C	uc001mly.2	+	5	651	c.605A>C	c.(604-606)CAG>CCG	p.Q202P	INSC_uc001mlz.2_Missense_Mutation_p.Q155P|INSC_uc001mma.2_Missense_Mutation_p.Q155P|INSC_uc010rcs.1_Missense_Mutation_p.Q155P|INSC_uc001mmb.2_Missense_Mutation_p.Q155P|INSC_uc001mmc.2_Missense_Mutation_p.Q155P	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	202					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						AGGTGCCTTCAGGTTGAGAAT	0.572		NaN											0	0	0	0.012213	0	31	15				
SPTY2D1	144108	broad.mit.edu	37	11	18636604	18636604	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:18636604G>C	uc001moy.2	-	3	1433	c.1217C>G	c.(1216-1218)TCA>TGA	p.S406*	SPTY2D1_uc010rdi.1_Nonsense_Mutation_p.S406*	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	406	Ser-rich.									breast(1)	1						CTCAGGTCCTGAGCTGGAGCT	0.592		NaN											0	0	0	0.008291	0	11	70				
SLC17A6	57084	broad.mit.edu	37	11	22360119	22360119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:22360119G>A	uc001mqk.2	+	1	453	c.40G>A	c.(40-42)GAG>AAG	p.E14K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	14	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CCCAGGAAAAGAGGGGCTAAA	0.438		NaN											0	0	0	0.00499	0	14	24				
LUZP2	338645	broad.mit.edu	37	11	24759813	24759813	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:24759813G>A	uc001mqs.2	+	4	532	c.298G>A	c.(298-300)GAG>AAG	p.E100K	LUZP2_uc009yif.2_Missense_Mutation_p.E14K|LUZP2_uc009yig.2_Missense_Mutation_p.E100K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	100	Potential.					extracellular region				ovary(1)|skin(1)	2						TCAGCTTAAGGAGACATCAGA	0.363		NaN											0	0	0	0.00308	0	6	20				
COMMD9	29099	broad.mit.edu	37	11	36302292	36302292	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:36302292G>A	uc001mwn.3	-	2	184	c.147C>T	c.(145-147)AGC>AGT	p.S49S	COMMD9_uc009ykj.2_Intron|COMMD9_uc010rfb.1_Silent_p.S49S	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	49										ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				TCACAGACAAGCTGGAACATG	0.468		NaN											0	0	0	0.001168	0	6	68				
ACCS	84680	broad.mit.edu	37	11	44098828	44098828	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:44098828G>A	uc009yks.1	+	7	701	c.557_splice	c.e7-1	p.E186_splice	EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_Splice_Site|ACCS_uc001mxx.2_Splice_Site_p.E186_splice	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						CCTGCCCCCAGAGGCTTTCCT	0.577		NaN											0	0	0	0.012319	0	21	91				
OR5T1	390155	broad.mit.edu	37	11	56043601	56043601	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:56043601G>A	uc001nio.1	+	1	487	c.487G>A	c.(487-489)GCT>ACT	p.A163T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	163	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTCCTATGTTGCTAGCATTTT	0.428		NaN											0	0	0	0.01441	0	101	170				
PCNXL3	399909	broad.mit.edu	37	11	65393495	65393495	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:65393495C>T	uc001oey.2	+	20	3349	c.3349C>T	c.(3349-3351)CCG>TCG	p.P1117S	PCNXL3_uc009yqn.2_Missense_Mutation_p.P77S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1117						integral to membrane					0						CGTGCTGAAGCCGCTGGAGTA	0.647		NaN									OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	13				
SIPA1	6494	broad.mit.edu	37	11	65412521	65412521	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:65412521C>T	uc001ofb.2	+	5	1247	c.1080C>T	c.(1078-1080)TTC>TTT	p.F360F	SIPA1_uc010rom.1_Silent_p.F360F|SIPA1_uc001ofd.2_Silent_p.F360F	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	360	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						GACCGGCCTTCATGCAGTTTC	0.622		NaN											0	0	0	0.003954	0	25	107				
CCDC87	55231	broad.mit.edu	37	11	66360334	66360334	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:66360334C>T	uc001oiq.3	-	1	221	c.153G>A	c.(151-153)GCG>GCA	p.A51A	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	51										ovary(1)|skin(1)	2						CCGTCAGCTTCGCCAGAGGGA	0.677		NaN									OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	49				
SPTBN2	6712	broad.mit.edu	37	11	66456633	66456633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:66456633G>A	uc001ojd.2	-	29	6040	c.5968C>T	c.(5968-5970)CAG>TAG	p.Q1990*	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1990	Spectrin 16.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCTGCAGCTGAGACAGCTTC	0.632		NaN											0	0	0	0.009096	0	3	14				
SSH3	54961	broad.mit.edu	37	11	67075889	67075889	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:67075889G>C	uc001okj.2	+	10	1199	c.1021G>C	c.(1021-1023)GAG>CAG	p.E341Q	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.E195Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	341	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCAGGGCTCAGAGTGGAACGC	0.657		NaN											0	0	0	0.00308	0	7	23				
MRGPRF	116535	broad.mit.edu	37	11	68773711	68773711	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:68773711C>T	uc001ooo.3	-	3	434	c.67G>A	c.(67-69)GAG>AAG	p.E23K	MRGPRF_uc001oop.3_Missense_Mutation_p.E23K	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	23	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCGGGGCCTCGCTCAGGCCA	0.667		NaN											0	0	0	0.004007	0	16	36				
TPCN2	219931	broad.mit.edu	37	11	68838873	68838873	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:68838873C>T	uc001oos.2	+	10	1061	c.945C>T	c.(943-945)TTC>TTT	p.F315F	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Silent_p.F230F|TPCN2_uc010rqg.1_Silent_p.F315F|TPCN2_uc001oot.2_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	315	Cytoplasmic (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACAGTCAGTTCCGGGGCTACC	0.597		NaN											0	0	0	0.009096	0	3	11				
PPFIA1	8500	broad.mit.edu	37	11	70200458	70200458	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:70200458G>A	uc001opo.2	+	17	2413	c.2215G>A	c.(2215-2217)GAA>AAA	p.E739K	PPFIA1_uc001opn.1_Missense_Mutation_p.E739K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	739					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATAAAGTGTGAAACCTCCCC	0.532		NaN											0	0	0	0.000602	0	5	50				
C2CD3	26005	broad.mit.edu	37	11	73825601	73825601	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:73825601C>T	uc001ouu.2	-	10	1785	c.1558G>A	c.(1558-1560)GAA>AAA	p.E520K	C2CD3_uc001ouv.2_Missense_Mutation_p.E520K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	520						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TGGGCATCTTCTGGAGTTTCT	0.443		NaN											0	0	0	0.010504	0	19	83				
MYO7A	4647	broad.mit.edu	37	11	76892492	76892492	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:76892492C>T	uc001oyb.2	+	23	3033	c.2761C>T	c.(2761-2763)CGG>TGG	p.R921W	MYO7A_uc010rsl.1_Missense_Mutation_p.R921W|MYO7A_uc010rsm.1_Missense_Mutation_p.R910W|MYO7A_uc001oyc.2_Missense_Mutation_p.R921W|MYO7A_uc001oyd.2_Missense_Mutation_p.R261W|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R132W	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	921	Potential.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GGCCGCTCGGCGGAAGAAGGA	0.617		NaN											0	0	0	0.001168	0	6	10				
C11orf82	220042	broad.mit.edu	37	11	82643638	82643638	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:82643638G>A	uc001ozt.2	+	6	1502	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	C11orf82_uc010rsr.1_Missense_Mutation_p.E119K|C11orf82_uc010rss.1_Missense_Mutation_p.E119K|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	420					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GCCATTCTCTGAAAGCCTGAA	0.443		NaN											0	0	0	0.004007	0	17	144				
CREBZF	58487	broad.mit.edu	37	11	85374910	85374910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85374910G>A	uc001pas.2	-	1	1273	c.1010C>T	c.(1009-1011)TCG>TTG	p.S337L	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	337					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GAACTCCACCGACACCTTATC	0.562		NaN									OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	21	122				
SYTL2	54843	broad.mit.edu	37	11	85438975	85438975	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85438975G>C	uc010rth.1	-	7	1699	c.1423C>G	c.(1423-1425)CAG>GAG	p.Q475E	SYTL2_uc010rtg.1_Missense_Mutation_p.Q476E|SYTL2_uc010rti.1_Missense_Mutation_p.Q475E|SYTL2_uc010rtj.1_Missense_Mutation_p.Q427E|SYTL2_uc009yvj.2_5'Flank|SYTL2_uc001pbd.2_5'Flank|SYTL2_uc001pbb.2_5'Flank|SYTL2_uc001pbc.2_5'Flank|SYTL2_uc010rtf.1_Missense_Mutation_p.Q333E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	475					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCTGGCACCTGAGATGGCTCA	0.453		NaN											0	0	0	0.00499	0	14	27				
SYTL2	54843	broad.mit.edu	37	11	85445719	85445719	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:85445719G>A	uc010rth.1	-	6	926	c.650C>T	c.(649-651)TCA>TTA	p.S217L	SYTL2_uc010rtg.1_Missense_Mutation_p.S218L|SYTL2_uc010rti.1_Missense_Mutation_p.S217L|SYTL2_uc010rtj.1_Missense_Mutation_p.S169L|SYTL2_uc001pbf.3_Missense_Mutation_p.S217L|SYTL2_uc010rtf.1_Missense_Mutation_p.S75L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	217					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTCTGCTTTGATTTCTCTAA	0.368		NaN											0	0	0	0.004878	0	35	66				
GRM5	2915	broad.mit.edu	37	11	88583124	88583124	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:88583124C>T	uc001pcq.2	-	2	1061	c.861G>A	c.(859-861)CTG>CTA	p.L287L	GRM5_uc009yvm.2_Silent_p.L287L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	287	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCATGGCCATCAGCAGACCTC	0.517		NaN											0	0	0	0.012213	0	35	50				
HEPHL1	341208	broad.mit.edu	37	11	93821974	93821974	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:93821974C>G	uc001pep.2	+	12	2291	c.2134C>G	c.(2134-2136)CAG>GAG	p.Q712E	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	712	Plastocyanin-like 4.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGCATGGGTCAGATCTATGA	0.502		NaN											0	0	0	0.004007	0	17	35				
PCSK7	9159	broad.mit.edu	37	11	117094889	117094889	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:117094889C>G	uc001pqr.2	-	8	1160	c.959G>C	c.(958-960)GGG>GCG	p.G320A		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	320	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AAAGATGCTCCCAAAGCCCTG	0.547		NaN	T	IGH@	MLCLS								0	0	0	0.00245	0	13	27				
ZNF202	7753	broad.mit.edu	37	11	123597577	123597577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:123597577C>T	uc001pzd.1	-	9	1475	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K	ZNF202_uc001pzc.1_Missense_Mutation_p.E135K|ZNF202_uc001pze.1_Missense_Mutation_p.E359K|ZNF202_uc001pzf.1_Missense_Mutation_p.E359K	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	359					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGATTGTCCTCAAAGACTATT	0.433		NaN											0	0	0	0.01441	0	79	134				
OR8B12	219858	broad.mit.edu	37	11	124412979	124412979	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:124412979G>A	uc010sam.1	-	1	572	c.572C>T	c.(571-573)TCT>TTT	p.S191F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATTCATGTAAGAGCTGTTGCA	0.458		NaN											0	0	0	0.013726	0	33	51				
ADAMTS15	170689	broad.mit.edu	37	11	130319039	130319039	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr11:130319039C>T	uc010scd.1	+	1	171	c.171C>T	c.(169-171)ATC>ATT	p.I57I		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTTTTCAGATCACAGCATTTC	0.602		NaN											0	0	0	0.008291	0	11	76				
A2M	2	broad.mit.edu	37	12	9229990	9229990	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:9229990G>A	uc001qvk.1	-	27	3416	c.3303C>T	c.(3301-3303)CTC>CTT	p.L1101L	A2M_uc001qvj.1_Silent_p.L143L|A2M_uc009zgk.1_Silent_p.L951L	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1101					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TATAGGCGGAGAGGGTCACTT	0.453		NaN											0	0	0	0.001984	0	5	10				
PRB1	5542	broad.mit.edu	37	12	11506649	11506649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:11506649G>A	uc001qzw.1	-	3	425	c.388C>T	c.(388-390)CAA>TAA	p.Q130*	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	191	7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGTCTGTTG	0.617		NaN											0	0	0	0.01441	0	46	693				
SLCO1C1	53919	broad.mit.edu	37	12	20903661	20903661	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:20903661C>T	uc001rej.3	+	15	2206	c.1851C>T	c.(1849-1851)CTC>CTT	p.L617L	SLCO1C1_uc010sii.1_Silent_p.L617L|SLCO1C1_uc010sij.1_Silent_p.L568L|SLCO1C1_uc009zip.2_Silent_p.L451L|SLCO1C1_uc001rei.2_Silent_p.L617L|SLCO1C1_uc010sik.1_Silent_p.L499L	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	617	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CTTCATGCCTCAAATGGGGAT	0.363		NaN											0	0	0	0.006122	0	17	70				
ADAMTS20	80070	broad.mit.edu	37	12	43825236	43825236	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:43825236G>A	uc010skx.1	-	22	3160	c.3160C>T	c.(3160-3162)CAC>TAC	p.H1054Y	ADAMTS20_uc001rno.1_Missense_Mutation_p.H208Y|ADAMTS20_uc001rnp.1_Missense_Mutation_p.H208Y	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1054	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTCAAGTGATCTACATTC	0.428		NaN											0	0	0	0.01441	0	63	40				
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:43944794G>A	uc010skx.1	-	2	371	c.371C>T	c.(370-372)TCG>TTG	p.S124L		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	124						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667		NaN											0	0	0	0.010729	0	10	5				
SFRS2IP	9169	broad.mit.edu	37	12	46320089	46320089	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:46320089G>A	uc001rox.2	-	11	3682	c.3395C>T	c.(3394-3396)TCA>TTA	p.S1132L	SFRS2IP_uc001row.2_Missense_Mutation_p.S817L|SFRS2IP_uc001roy.1_Missense_Mutation_p.S1206L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1132					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TGTATCAAATGAGAACTCCTG	0.443		NaN											0	0	0	0.005443	0	27	83				
KRT4	3851	broad.mit.edu	37	12	53207850	53207850	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53207850G>C	uc001saz.2	-	1	486	c.215C>G	c.(214-216)TCT>TGT	p.S72C		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						CATGGCTGCAGAGAGCGAGCT	0.627		NaN											0	0	0	0.006122	0	17	33				
KRT78	196374	broad.mit.edu	37	12	53242451	53242451	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53242451G>A	uc001sbc.1	-	1	328	c.264C>T	c.(262-264)ATC>ATT	p.I88I		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	88	Head.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						GATTCTGGTTGATGGTCACTT	0.622		NaN											0	0	0	0.003163	0	11	29				
RARG	5916	broad.mit.edu	37	12	53607319	53607319	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:53607319C>T	uc001sce.2	-	8	1464	c.979G>A	c.(979-981)GAG>AAG	p.E327K	RARG_uc001scd.2_Missense_Mutation_p.E316K|RARG_uc010sob.1_Missense_Mutation_p.E305K|RARG_uc001scf.2_Missense_Mutation_p.E327K|RARG_uc001scg.2_Missense_Mutation_p.E255K|RARG_uc010soc.1_Missense_Mutation_p.E206K|RARG_uc010sod.1_Missense_Mutation_p.E364K	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	327	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCCCTGTCTCGGTGTCATCC	0.647		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	25	17				
TRHDE	29953	broad.mit.edu	37	12	72956777	72956777	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:72956777G>C	uc001sxa.2	+	9	1894	c.1864G>C	c.(1864-1866)GAT>CAT	p.D622H		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	622	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TTTTATCTATGATATCAGTGC	0.323		NaN											0	0	0	0.01441	0	58	41				
C12orf63	374467	broad.mit.edu	37	12	97157932	97157932	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:97157932C>T	uc001tet.1	+	26	3397	c.3319C>T	c.(3319-3321)CCT>TCT	p.P1107S		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1107										skin(6)|ovary(1)	7						TTTTTAGCCTCCTCTCAGAAG	0.308		NaN											0	0	0	0.001168	0	6	23				
ATP2A2	488	broad.mit.edu	37	12	110778732	110778732	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:110778732G>C	uc001tqk.3	+	14	2593	c.2030G>C	c.(2029-2031)CGA>CCA	p.R677P	ATP2A2_uc001tql.3_Missense_Mutation_p.R677P|ATP2A2_uc010sxy.1_Missense_Mutation_p.R650P	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	677	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						TGTTTTGCTCGAGTTGAACCC	0.498		NaN											0	0	0	0.006214	0	9	24				
ARPC3	10094	broad.mit.edu	37	12	110874486	110874486	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:110874486G>A	uc001tqq.2	-	5	348	c.255C>T	c.(253-255)TGC>TGT	p.C85C		NM_005719	NP_005710	O15145	ARPC3_HUMAN	actin related protein 2/3 complex subunit 3	85					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			ovary(1)	1						TTTTGGAATTGCACTGGaaaa	0.254		NaN											0	0	0	0.00308	0	7	27				
DDX54	79039	broad.mit.edu	37	12	113599123	113599123	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:113599123C>A	uc001tup.2	-	19	2393	c.2365G>T	c.(2365-2367)GAC>TAC	p.D789Y	DDX54_uc001tuq.3_Missense_Mutation_p.D789Y	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	789					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CCTCGCCGGTCAGATGCCCCT	0.577		NaN											1	0	9.16793e-09	0.00499	9.64887e-09	15	37				
EP400	57634	broad.mit.edu	37	12	132445298	132445298	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:132445298C>T	uc001ujn.2	+	1	169	c.134C>T	c.(133-135)TCA>TTA	p.S45L	EP400_uc001ujl.2_Missense_Mutation_p.S45L|EP400_uc001ujm.2_Missense_Mutation_p.S45L|EP400_uc001ujj.1_Missense_Mutation_p.S45L|EP400_uc001ujk.2_Missense_Mutation_p.S45L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	45					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCGCTCCCTCAGCAAGCCCG	0.652		NaN											0	0	0	0.004007	0	16	12				
ZNF10	7556	broad.mit.edu	37	12	133732614	133732614	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:133732614G>C	uc009zzb.2	+	5	1229	c.782G>C	c.(781-783)AGA>ACA	p.R261T	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.R261T	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	261				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGCATACATAGAGAGAAACCC	0.393		NaN											0	0	0	0.013537	0	12	51				
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:20039688G>A	uc001umd.2	-	9	740	c.529C>T	c.(529-531)CGA>TGA	p.R177*	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.289		NaN											0	0	0	0.00499	0	17	22				
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:25283562C>T	uc001upp.2	+	18	2741	c.2554C>T	c.(2554-2556)CGC>TGC	p.R852C	ATP12A_uc010aaa.2_Missense_Mutation_p.R858C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	852	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGAAGCCTCGCCACAAGAA	0.557		NaN											0	0	0	0.001855	0	12	58				
BRCA2	675	broad.mit.edu	37	13	32915264	32915264	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:32915264G>A	uc001uub.1	+	11	6999	c.6772G>A	c.(6772-6774)GAA>AAA	p.E2258K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2258					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACATGTCCCGAAAATGAGGA	0.378		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.00499	0	18	179				
COG3	83548	broad.mit.edu	37	13	46103990	46103990	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:46103990G>A	uc001vak.2	+	21	2396	c.2295G>A	c.(2293-2295)TTG>TTA	p.L765L	COG3_uc010tfv.1_Silent_p.L602L|COG3_uc010aci.2_Silent_p.L541L	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	765					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGTGACATTGAGAAGTATGT	0.388		NaN											0	0	0	0.006999	0	38	25				
UTP14C	9724	broad.mit.edu	37	13	52605165	52605165	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:52605165C>T	uc001vgb.2	+	2	2760	c.2225C>T	c.(2224-2226)TCA>TTA	p.S742L	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	742					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAGTCTTCCTCAAGGTCAGAC	0.478		NaN											0	0	0	0.004007	0	15	143				
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:73649905G>A	uc001vje.2	+	4	1579	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	KLF5_uc001vjd.2_Missense_Mutation_p.E328K	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	419	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592		NaN											0	0	0	0.00308	0	7	54		Valid		
GRTP1	79774	broad.mit.edu	37	13	114009747	114009747	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114009747G>T	uc001vtn.2	-	3	328	c.231C>A	c.(229-231)GTC>GTA	p.V77V	GRTP1_uc010tkb.1_Translation_Start_Site|GRTP1_uc010tkc.1_Silent_p.V77V|GRTP1_uc010agv.1_RNA	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	77	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCACCATCCAGACGCGGGCAC	0.662		NaN											1	0	4.96729e-08	0.008871	5.19381e-08	21	27				
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114077230G>A	uc001vtq.1	-	7	1059	c.972C>T	c.(970-972)CTC>CTT	p.L324L	ADPRHL1_uc001vtp.1_Silent_p.L242L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	324					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617		NaN											0	0	0	0.001984	0	6	83				
TMCO3	55002	broad.mit.edu	37	13	114150069	114150069	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:114150069C>T	uc001vtu.3	+	2	534	c.173C>T	c.(172-174)TCA>TTA	p.S58L	TMCO3_uc001vtt.3_Missense_Mutation_p.S58L	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	58						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAAGCTCTCAGGGCTTCTC	0.582		NaN											0	0	0	0.010729	0	12	18				
ZNF828	283489	broad.mit.edu	37	13	115090645	115090645	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:115090645C>T	uc010ahb.2	+	3	1657	c.1328C>T	c.(1327-1329)TCA>TTA	p.S443L	ZNF828_uc001vuv.2_Missense_Mutation_p.S443L|ZNF828_uc010tko.1_Missense_Mutation_p.S443L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	443	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		AGAAAACCCTCAGGGTCACCA	0.537		NaN											0	0	0	0.01441	0	72	151				
JUB	84962	broad.mit.edu	37	14	23445703	23445703	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23445703C>G	uc001whz.2	-	4	1577	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q	JUB_uc001why.2_5'UTR	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	401	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CAGCATTTCTCAGCTGCCTCC	0.478		NaN											0	0	0	0.01441	0	49	188				
C14orf93	60686	broad.mit.edu	37	14	23456450	23456450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23456450C>G	uc001wib.1	-	7	1901	c.1591G>C	c.(1591-1593)GAA>CAA	p.E531Q	C14orf93_uc001wic.1_Missense_Mutation_p.E351Q|C14orf93_uc001wid.1_Missense_Mutation_p.E531Q|C14orf93_uc001wig.2_Missense_Mutation_p.E531Q|C14orf93_uc001wih.2_Missense_Mutation_p.E531Q|C14orf93_uc001wie.2_Missense_Mutation_p.E531Q|C14orf93_uc001wia.3_Missense_Mutation_p.E491Q|C14orf93_uc001wif.2_Missense_Mutation_p.E351Q	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	531						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ACCTTGATTTCAATGAATGAG	0.483		NaN									OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	5	35				
PABPN1	8106	broad.mit.edu	37	14	23792641	23792641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:23792641C>T	uc001wjk.2	+	4	1872	c.590C>T	c.(589-591)TCA>TTA	p.S197L	PABPN1_uc001wjh.3_Missense_Mutation_p.S224L|PABPN1_uc001wjj.2_Missense_Mutation_p.S197L	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	197	Necessary for homooligomerization.|RRM.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCTGTGGTTCAGTCAACCGT	0.428		NaN											0	0	0	0.010729	0	9	78				
ADCY4	196883	broad.mit.edu	37	14	24799114	24799114	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:24799114G>A	uc001wov.2	-	8	1175	c.1169C>T	c.(1168-1170)TCA>TTA	p.S390L	ADCY4_uc001wow.2_Missense_Mutation_p.S390L|ADCY4_uc010toh.1_Missense_Mutation_p.S76L|ADCY4_uc001wox.2_Missense_Mutation_p.S390L|ADCY4_uc001woy.2_Missense_Mutation_p.S390L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	390	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GACATCATGTGACCAAACGTC	0.597		NaN											0	0	0	0.010504	0	20	112				
G2E3	55632	broad.mit.edu	37	14	31074728	31074728	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:31074728G>C	uc001wqk.2	+	11	1182	c.1028G>C	c.(1027-1029)AGA>ACA	p.R343T	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Missense_Mutation_p.R297T	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	343					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGCAAATTTAGAAGAAATGTA	0.269		NaN											0	0	0	0.00308	0	8	28				
NID2	22795	broad.mit.edu	37	14	52520475	52520475	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:52520475G>T	uc001wzo.2	-	5	1485	c.1251C>A	c.(1249-1251)AAC>AAA	p.N417K	NID2_uc010tqs.1_Missense_Mutation_p.N417K|NID2_uc010tqt.1_Missense_Mutation_p.N417K|NID2_uc001wzp.2_Missense_Mutation_p.N417K	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	417						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					GGATGCTTCCGTTTTCGGGGT	0.557		NaN											1	0	1.5548e-18	0.005443	1.69471e-18	26	83				
SAMD4A	23034	broad.mit.edu	37	14	55169071	55169071	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:55169071G>A	uc001xbb.2	+	2	486	c.485G>A	c.(484-486)CGA>CAA	p.R162Q	SAMD4A_uc001xba.2_Missense_Mutation_p.R162Q|SAMD4A_uc001xbc.2_Missense_Mutation_p.R162Q|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Missense_Mutation_p.R62Q	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	163					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						GGCCAGAACCGAGGCCGCTCA	0.512		NaN											0	0	0	0.00632	0	27	61				
DLGAP5	9787	broad.mit.edu	37	14	55618550	55618550	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:55618550C>G	uc001xbs.2	-	17	2448	c.2231G>C	c.(2230-2232)GGA>GCA	p.G744A	DLGAP5_uc001xbt.2_Missense_Mutation_p.G744A	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	744					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						ATCTGAAATTCCTTCTTTTTT	0.368		NaN											0	0	0	0.003163	0	16	67				
C14orf37	145407	broad.mit.edu	37	14	58604778	58604778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:58604778G>C	uc001xdc.2	-	2	1410	c.1299C>G	c.(1297-1299)TTC>TTG	p.F433L	C14orf37_uc010tro.1_Missense_Mutation_p.F471L|C14orf37_uc001xdd.2_Missense_Mutation_p.F433L|C14orf37_uc001xde.2_Missense_Mutation_p.F433L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	433	Extracellular (Potential).					integral to membrane	binding				0						TGGTTTCTAAGAAAAACAGGG	0.398		NaN											0	0	0	0.00245	0	13	93				
C14orf37	145407	broad.mit.edu	37	14	58604814	58604814	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:58604814G>A	uc001xdc.2	-	2	1374	c.1263C>T	c.(1261-1263)TTC>TTT	p.F421F	C14orf37_uc010tro.1_Silent_p.F459F|C14orf37_uc001xdd.2_Silent_p.F421F|C14orf37_uc001xde.2_Silent_p.F421F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	421	Extracellular (Potential).					integral to membrane	binding				0						TGGATTCCGTGAAGTCTCCCG	0.438		NaN											0	0	0	0.013537	0	12	75				
PLEKHG3	26030	broad.mit.edu	37	14	65198192	65198192	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:65198192C>T	uc001xho.1	+	8	1232	c.963C>T	c.(961-963)TTC>TTT	p.F321F	PLEKHG3_uc001xhn.1_Silent_p.F265F|PLEKHG3_uc001xhp.2_Silent_p.F321F|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	321	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGACCTTTTTCCTCTTTGACA	0.567		NaN											0	0	0	0.005443	0	26	55				
VIPAR	63894	broad.mit.edu	37	14	77916080	77916080	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:77916080C>T	uc001xtt.1	-	6	697	c.359G>A	c.(358-360)GGA>GAA	p.G120E	VIPAR_uc001xtu.1_Missense_Mutation_p.G120E|VIPAR_uc010tvj.1_Missense_Mutation_p.G71E|VIPAR_uc001xtv.1_Missense_Mutation_p.G120E	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	120					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						CTGGAAACTTCCAGGTCTAGT	0.443		NaN											0	0	0	0.010771	0	44	72				
NRXN3	9369	broad.mit.edu	37	14	79269994	79269994	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:79269994G>C	uc001xun.2	+	6	1448	c.957G>C	c.(955-957)ATG>ATC	p.M319I	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.M453I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	692	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGGTAGCATGTACATGAAGA	0.498		NaN											0	0	0	0.01441	0	49	75				
GALC	2581	broad.mit.edu	37	14	88450815	88450815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:88450815G>A	uc001xvt.2	-	5	904	c.505C>T	c.(505-507)CAG>TAG	p.Q169*	GALC_uc010tvx.1_Nonsense_Mutation_p.Q143*|GALC_uc010tvy.1_Nonsense_Mutation_p.Q146*|GALC_uc010tvz.1_Nonsense_Mutation_p.Q113*|GALC_uc001xvu.1_Nonsense_Mutation_p.Q169*	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	169					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						GCAGTCAGCTGAAGATTGACA	0.453		NaN											0	0	0	0.008871	0	18	32				
ZC3H14	79882	broad.mit.edu	37	14	89034385	89034385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:89034385G>A	uc001xww.2	+	3	307	c.82G>A	c.(82-84)GAA>AAA	p.E28K	ZC3H14_uc010twd.1_Missense_Mutation_p.E28K|ZC3H14_uc010twe.1_Missense_Mutation_p.E28K|ZC3H14_uc001xwx.2_Missense_Mutation_p.E28K|ZC3H14_uc010twf.1_5'UTR|ZC3H14_uc001xwy.2_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	28						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						TTAAATAGATGAAGAACTTCC	0.363		NaN											0	0	0	0.00308	0	8	36				
C14orf143	90141	broad.mit.edu	37	14	90416473	90416473	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:90416473G>A	uc001xxt.2	-	3	270	c.185C>T	c.(184-186)TCT>TTT	p.S62F	C14orf143_uc001xxs.2_Missense_Mutation_p.S38F|C14orf143_uc001xxv.1_RNA|C14orf143_uc001xxw.1_Missense_Mutation_p.S38F|C14orf143_uc001xxx.1_Missense_Mutation_p.S62F	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	hypothetical protein LOC90141	62							calcium ion binding				0		all_cancers(154;0.136)		Epithelial(152;0.194)		AGACATCACAGAATCCACTTC	0.254		NaN											0	0	0	0.00308	0	6	14				
PSMC1	5700	broad.mit.edu	37	14	90735763	90735763	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:90735763G>C	uc001xyf.2	+	9	952	c.904G>C	c.(904-906)GAG>CAG	p.E302Q	PSMC1_uc001xyg.2_Missense_Mutation_p.E229Q|PSMC1_uc001xyh.2_Missense_Mutation_p.E229Q	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TTCTGGTGGTGAGAGAGAAAT	0.418		NaN											0	0	0	0.001855	0	13	77				
RAGE	5891	broad.mit.edu	37	14	102749865	102749865	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:102749865C>G	uc001ylm.2	-	2	298	c.72G>C	c.(70-72)CTG>CTC	p.L24L	RAGE_uc010txv.1_Silent_p.L24L|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	24	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TTCCATCTCTCAGGCTTTGCA	0.358		NaN											0	0	0	0.009535	0	28	42				
CINP	51550	broad.mit.edu	37	14	102822155	102822155	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:102822155C>T	uc001ylv.1	-	3	321	c.256G>A	c.(256-258)GAG>AAG	p.E86K	CINP_uc001ylu.1_RNA	NM_032630	NP_116019	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2-interacting protein	86	Potential.				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(1)	1						TCCAGTTCCTCGTTATATTCC	0.443		NaN											0	0	0	0.004007	0	16	74				
AKT1	207	broad.mit.edu	37	14	105243078	105243078	+	Silent	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105243078G>T	uc001ypk.2	-	4	759	c.205C>A	c.(205-207)CGG>AGG	p.R69R	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.R69R|AKT1_uc010axa.2_Silent_p.R69R|AKT1_uc001ypm.2_Silent_p.R69R|AKT1_uc001ypn.2_Silent_p.R69R|AKT1_uc010tyk.1_Silent_p.R7R	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	69	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GTGTTGGGCCGGGGCCGCTCC	0.672		1	Mis		breast|colorectal|ovarian|NSCLC								1	0	6.72482e-11	0.003163	7.17166e-11	14	35				
AHNAK2	113146	broad.mit.edu	37	14	105406884	105406884	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105406884C>T	uc010axc.1	-	7	15024	c.14904G>A	c.(14902-14904)AAG>AAA	p.K4968K	AHNAK2_uc001ypx.2_Silent_p.K4868K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4968						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTTTCCTTCTTCGGGGACC	0.532		NaN											0	0	0	0.00245	0	13	23				
AHNAK2	113146	broad.mit.edu	37	14	105413428	105413428	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr14:105413428C>G	uc010axc.1	-	7	8480	c.8360G>C	c.(8359-8361)AGA>ACA	p.R2787T	AHNAK2_uc001ypx.2_Missense_Mutation_p.R2687T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2787						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTTGCTCTCGGGGCCTG	0.602		NaN											0	0	0	0.01441	0	119	221				
GABRB3	2562	broad.mit.edu	37	15	26793038	26793038	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:26793038G>C	uc001zaz.2	-	9	1466	c.1324C>G	c.(1324-1326)CTA>GTA	p.L442V	GABRB3_uc010uae.1_Missense_Mutation_p.L357V|GABRB3_uc001zba.2_Missense_Mutation_p.L442V|GABRB3_uc001zbb.2_Missense_Mutation_p.L498V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	442	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACATCGGTTAGATCAGGTATT	0.458		NaN											0	0	0	0.003271	0	33	38				
GABRA5	2558	broad.mit.edu	37	15	27193135	27193135	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:27193135A>G	uc001zbd.1	+	12	1483	c.1144A>G	c.(1144-1146)ATG>GTG	p.M382V	GABRA5_uc001zbe.1_RNA	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	382	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACTGGGAAGATGTCTCACCC	0.433		NaN											0	0	0	0.000602	0	4	5				
AVEN	57099	broad.mit.edu	37	15	34159807	34159807	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:34159807G>A	uc001zhj.2	-	5	918	c.862C>T	c.(862-864)CTG>TTG	p.L288L		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	288					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTAAGCAACAGATCTAGTTCT	0.488		NaN											0	0	0	0.010818	0	32	147				
DLL4	54567	broad.mit.edu	37	15	41228778	41228778	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:41228778C>T	uc001zng.1	+	9	1913	c.1593C>T	c.(1591-1593)GCC>GCT	p.A531A		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	531	Helical; (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGGGTGGCCGTCTCGCTGG	0.672		NaN											0	0	0	0.00308	0	8	10				
TTBK2	146057	broad.mit.edu	37	15	43044650	43044650	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:43044650C>T	uc001zqo.2	-	14	3233	c.2794G>A	c.(2794-2796)GAT>AAT	p.D932N	TTBK2_uc010bcy.2_Missense_Mutation_p.D863N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	932					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTAACCATATCCTTCCGGGTT	0.428		NaN											0	0	0	0.003271	0	34	79				
ALDH1A2	8854	broad.mit.edu	37	15	58256149	58256149	+	Silent	SNP	G	G	A	rs114347273	by1000genomes	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:58256149G>A	uc002aex.2	-	9	1078	c.1020C>T	c.(1018-1020)AGC>AGT	p.S340S	ALDH1A2_uc002aey.2_Silent_p.S302S|ALDH1A2_uc010ugv.1_Silent_p.S319S|ALDH1A2_uc010ugw.1_Silent_p.S311S|ALDH1A2_uc002aew.2_Silent_p.S244S	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	340					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCCGCTCCACGCTTCTTCTCA	0.542		NaN											0	0	0	0.00632	0	26	84				
CELF6	60677	broad.mit.edu	37	15	72581516	72581516	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:72581516G>A	uc002auh.2	-	8	1303	c.993C>T	c.(991-993)TCC>TCT	p.S331S	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Silent_p.S218S|CELF6_uc010ukl.1_Silent_p.S215S|CELF6_uc010ukm.1_Silent_p.S331S|CELF6_uc002aui.2_Silent_p.S437S|CELF6_uc002auj.2_Silent_p.S218S	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	331					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						AGAGCGTGTCGGAGCCCGGCT	0.692		NaN											0	0	0	0.004672	0	3	5				
LOXL1	4016	broad.mit.edu	37	15	74240184	74240184	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:74240184G>A	uc002awc.1	+	5	1879	c.1543G>A	c.(1543-1545)GAC>AAC	p.D515N	LOXL1_uc002awd.1_RNA	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	515	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						CTACAATGCGGACATCGACTG	0.597		NaN											0	0	0	0.013537	0	10	96				
SCAPER	49855	broad.mit.edu	37	15	76673758	76673758	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:76673758G>T	uc002bby.2	-	27	3725	c.3666C>A	c.(3664-3666)TTC>TTA	p.F1222L	SCAPER_uc010bkr.2_Missense_Mutation_p.F530L|SCAPER_uc002bbx.2_Missense_Mutation_p.F976L|SCAPER_uc002bbz.1_Missense_Mutation_p.F1093L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1221						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AGCTGTTGAAGAAACGTAAAC	0.428		NaN											1	0	2.17888e-05	0.006214	2.24894e-05	8	34				
SCAPER	49855	broad.mit.edu	37	15	76673922	76673922	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:76673922G>A	uc002bby.2	-	27	3561	c.3502C>T	c.(3502-3504)CCC>TCC	p.P1168S	SCAPER_uc010bkr.2_Missense_Mutation_p.P476S|SCAPER_uc002bbx.2_Missense_Mutation_p.P922S|SCAPER_uc002bbz.1_Missense_Mutation_p.P1039S	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1167						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AGCCCTGTGGGATCCTGGCGA	0.453		NaN											0	0	0	0.009096	0	4	13				
CPEB1	64506	broad.mit.edu	37	15	83295967	83295967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:83295967C>T	uc002bit.2	-	2	484	c.347G>A	c.(346-348)CGA>CAA	p.R116Q	CPEB1_uc002biu.2_Missense_Mutation_p.R83Q|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.R56Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	56					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATGAATTCCTCGGTTTATAGG	0.403		NaN											0	0	0	0.004656	0	25	76				
SV2B	9899	broad.mit.edu	37	15	91809817	91809817	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr15:91809817C>G	uc002bqv.2	+	6	1405	c.1014C>G	c.(1012-1014)TCC>TCG	p.S338S	SV2B_uc002bqt.2_Silent_p.S338S|SV2B_uc010uqv.1_Silent_p.S187S|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	338	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCAGGTTTCCAACATCAAAA	0.368		NaN											0	0	0	0.003163	0	14	41				
LUC7L	55692	broad.mit.edu	37	16	270656	270656	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:270656C>G	uc002cgc.1	-	3	358	c.247G>C	c.(247-249)GAA>CAA	p.E83Q	LUC7L_uc002cga.1_Missense_Mutation_p.E83Q|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.E83Q	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	83							metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACATCTAATTCAAAAAACAGG	0.308		NaN											0	0	0	0.01441	0	60	98				
NARFL	64428	broad.mit.edu	37	16	783368	783368	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:783368C>A	uc002cjr.2	-	7	765	c.753G>T	c.(751-753)CTG>CTT	p.L251L	NARFL_uc002cjp.2_Silent_p.L149L|NARFL_uc002cjq.2_Silent_p.L149L|NARFL_uc002cjs.2_Silent_p.L33L|NARFL_uc010uuq.1_5'Flank	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	251					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TGGAGGCTTCCAGCTTTTTGT	0.557		NaN											1	0	0.00024832	0.009096	0.000253452	4	51				
IFT140	9742	broad.mit.edu	37	16	1618267	1618267	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:1618267G>A	uc002cmb.2	-	15	2083	c.1721C>T	c.(1720-1722)TCT>TTT	p.S574F	IFT140_uc002clz.2_Missense_Mutation_p.S225F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	574										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GCACCGCAGAGAAGCGATGCC	0.672		NaN											0	0	0	0.00308	0	6	18				
SRRM2	23524	broad.mit.edu	37	16	2817596	2817596	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:2817596G>A	uc002crk.2	+	11	7616	c.7067G>A	c.(7066-7068)AGA>AAA	p.R2356K	SRRM2_uc002crj.1_Missense_Mutation_p.R2260K|SRRM2_uc002crl.1_Missense_Mutation_p.R2356K|SRRM2_uc010bsu.1_Missense_Mutation_p.R2260K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2356	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCGGCTCCAGAACCGCCGCA	0.627		NaN											0	0	0	0.007413	0	18	155				
BTBD12	84464	broad.mit.edu	37	16	3640791	3640791	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:3640791C>G	uc002cvp.2	-	12	3475	c.2848G>C	c.(2848-2850)GAG>CAG	p.E950Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	950	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGCGCCTCCTCTGGCGCCTCC	0.657		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				0	0	0	0.013537	0	13	54				
C16orf71	146562	broad.mit.edu	37	16	4797521	4797521	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:4797521G>A	uc002cxn.2	+	9	1920	c.1458G>A	c.(1456-1458)CAG>CAA	p.Q486Q		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	486										central_nervous_system(1)	1						CCAAGGGGCAGAGCGCCCAGG	0.667		NaN											0	0	0	0.00308	0	7	20				
NOMO1	23420	broad.mit.edu	37	16	14989478	14989478	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:14989478G>C	uc002dcv.2	+	31	3711	c.3645G>C	c.(3643-3645)AAG>AAC	p.K1215N		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1215	Cytoplasmic (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						GACAAGCCAAGAAACAGAAGA	0.607		NaN											0	0	0	0.01441	0	87	515				
ABCC1	4363	broad.mit.edu	37	16	16180768	16180768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:16180768C>T	uc010bvi.2	+	18	2555	c.2380C>T	c.(2380-2382)CCC>TCC	p.P794S	ABCC1_uc010bvj.2_Missense_Mutation_p.P735S|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Missense_Mutation_p.P794S|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Missense_Mutation_p.P678S	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	794	ABC transporter 1.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTCGATGATCCCCTCTCAGC	0.592		NaN											0	0	0	0.004482	0	8	75				
DNAH3	55567	broad.mit.edu	37	16	21078642	21078642	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:21078642C>T	uc010vbe.1	-	24	3480	c.3480G>A	c.(3478-3480)CTG>CTA	p.L1160L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1160	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGTAATCATTCAGCCCTTTCT	0.443		NaN											0	0	0	0.00245	0	15	60				
PRKCB	5579	broad.mit.edu	37	16	24231400	24231400	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:24231400C>G	uc002dmd.2	+	17	2179	c.1982C>G	c.(1981-1983)TCT>TGT	p.S661C	PRKCB_uc002dme.2_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	661	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	GCTGGCTTCTCTTATACTAAC	0.433		NaN											0	0	0	0.00278	0	22	54				
GDPD3	79153	broad.mit.edu	37	16	30123483	30123483	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123483C>A	uc002dwp.2	-	6	622	c.543G>T	c.(541-543)AAG>AAT	p.K181N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.K119N|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	181	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						TGACCGAGCTCTTCTCCGAGG	0.617		NaN									OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.04858e-14	0.006214	1.13522e-14	9	71				
GDPD3	79153	broad.mit.edu	37	16	30123690	30123690	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123690C>A	uc002dwp.2	-	5	499	c.420G>T	c.(418-420)CAG>CAT	p.Q140H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.Q78H|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	140	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						TTGGAAACCTCTGGAACAGGT	0.622		NaN									OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.58986e-06	0.008291	1.64628e-06	10	88				
GDPD3	79153	broad.mit.edu	37	16	30123730	30123730	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30123730C>A	uc002dwp.2	-	5	459	c.380G>T	c.(379-381)GGG>GTG	p.G127V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.G65V|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	127	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						CCGGTCTGACCCGTGAGCAAA	0.602		NaN									OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.33987e-11	0.008291	1.43846e-11	9	93				
MAPK3	5595	broad.mit.edu	37	16	30128229	30128229	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:30128229C>T	uc002dws.2	-	7	1103	c.1003G>A	c.(1003-1005)GAC>AAC	p.D335N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.D221N|MAPK3_uc002dwv.3_Missense_Mutation_p.D291N|MAPK3_uc002dwt.2_Missense_Mutation_p.D335N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_Intron	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	335					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TCCGTCGGGTCATAGTACTGC	0.627		NaN											0	0	0	0.004007	0	16	135				
CES3	23491	broad.mit.edu	37	16	66998585	66998585	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:66998585C>T	uc002eqt.2	+	6	847	c.774C>T	c.(772-774)ATC>ATT	p.I258I	CES3_uc010cdz.2_Silent_p.I258I|CES3_uc010cea.2_RNA|CES3_uc010viw.1_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	258						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTGGGGTCATCACCACCCCAG	0.587		NaN											0	0	0	0.012213	0	32	23				
LRRC36	55282	broad.mit.edu	37	16	67404900	67404900	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:67404900G>C	uc002esv.2	+	9	1268	c.1249G>C	c.(1249-1251)GAG>CAG	p.E417Q	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.E149Q|LRRC36_uc002esx.2_Missense_Mutation_p.E296Q|LRRC36_uc010vjk.1_Missense_Mutation_p.E296Q|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	417											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGTCAATGTAGAGCAACAATT	0.433		NaN											0	0	0	0.001984	0	7	96				
WWP2	11060	broad.mit.edu	37	16	69964146	69964146	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:69964146C>T	uc002exu.1	+	14	1519	c.1430C>T	c.(1429-1431)CCG>CTG	p.P477L	WWP2_uc002exv.1_Missense_Mutation_p.P477L|WWP2_uc010vlm.1_Missense_Mutation_p.P361L|WWP2_uc010vln.1_Missense_Mutation_p.P95L|WWP2_uc002exw.1_Missense_Mutation_p.P38L|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	477	WW 4.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GATCCTCGCCCGGGGTTTGAG	0.597		NaN									OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003755	0	32	10				
AP1G1	164	broad.mit.edu	37	16	71799484	71799484	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:71799484C>G	uc010cgg.2	-	7	960	c.646G>C	c.(646-648)GTG>CTG	p.V216L	AP1G1_uc002fba.2_Missense_Mutation_p.V219L|AP1G1_uc002fbb.2_Missense_Mutation_p.V239L|AP1G1_uc010vmg.1_RNA	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	216					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				AATTGGGGCACAAGCTGCAGA	0.408		NaN											0	0	0	0.001855	0	12	32				
LRRC50	123872	broad.mit.edu	37	16	84199455	84199455	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:84199455G>A	uc002fhl.3	+	7	1111	c.930G>A	c.(928-930)GAG>GAA	p.E310E	LRRC50_uc010vnw.1_Silent_p.E58E	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	310					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						AGCAGTGGGAGAGCAGGGAGC	0.522		NaN							Kartagener_syndrome				0	0	0	0.008291	0	9	91				
ZNF276	92822	broad.mit.edu	37	16	89800365	89800365	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:89800365C>T	uc002fos.3	+	9	1490	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	ZNF276_uc010ciq.2_Missense_Mutation_p.R251W|ZNF276_uc002fop.2_Missense_Mutation_p.R373W|ZNF276_uc002foq.3_Missense_Mutation_p.R390W|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.R251W|ZNF276_uc010cis.2_Missense_Mutation_p.R224W|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.R303W|ZNF276_uc010cit.1_Missense_Mutation_p.R224W	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	465	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGTCCGGGAGCGGCCCTGCCC	0.627		NaN											0	0	0	0.013537	0	13	19				
ZNF276	92822	broad.mit.edu	37	16	89800436	89800436	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:89800436C>T	uc002fos.3	+	9	1561	c.1464C>T	c.(1462-1464)CTC>CTT	p.L488L	ZNF276_uc010ciq.2_Silent_p.L274L|ZNF276_uc002fop.2_Silent_p.L396L|ZNF276_uc002foq.3_Silent_p.L413L|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Silent_p.L274L|ZNF276_uc010cis.2_Silent_p.L247L|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Silent_p.L326L|ZNF276_uc010cit.1_Silent_p.L247L	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	488	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACGTGAAGCTCATCCACACAG	0.637		NaN											0	0	0	0.010729	0	10	19				
DEF8	54849	broad.mit.edu	37	16	90016035	90016035	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr16:90016035G>A	uc002fpn.1	+	2	251	c.162G>A	c.(160-162)ACG>ACA	p.T54T	DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	54					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677		NaN											0	0	0	0.009096	0	4	19				
GSG2	83903	broad.mit.edu	37	17	3628001	3628001	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:3628001G>C	uc002fwp.2	+	1	805	c.772G>C	c.(772-774)GAG>CAG	p.E258Q	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	258					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TGAGGATTCTGAGTTTCGGGC	0.542		NaN											0	0	0	0.001855	0	14	70				
MYBBP1A	10514	broad.mit.edu	37	17	4455916	4455916	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:4455916C>T	uc002fyb.3	-	6	629	c.567G>A	c.(565-567)TCG>TCA	p.S189S	MYBBP1A_uc002fxz.3_Silent_p.S189S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	189	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						ATGTGGCCTTCGAGACCTAAG	0.572		NaN											0	0	0	0.008291	0	8	33				
BCL6B	255877	broad.mit.edu	37	17	6927018	6927018	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:6927018G>C	uc002geg.2	+	2	85	c.28G>C	c.(28-30)GCG>CCG	p.A10P	BCL6B_uc010clt.1_Missense_Mutation_p.A10P	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	10						nucleus	zinc ion binding			skin(1)	1						CCCGGAGGGAGCGCTGGGCTA	0.662		NaN											0	0	0	0.003163	0	16	23				
ATP1B2	482	broad.mit.edu	37	17	7557505	7557505	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:7557505C>G	uc002gif.1	+	4	1065	c.482C>G	c.(481-483)TCC>TGC	p.S161C		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	161	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GGCAACTGCTCCGGCATTGGG	0.562		NaN											0	0	0	0.013114	0	45	214				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	48	15		Valid		
ARHGEF15	22899	broad.mit.edu	37	17	8222159	8222159	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:8222159C>T	uc002glc.2	+	12	2085	c.1964C>T	c.(1963-1965)TCG>TTG	p.S655L	ARHGEF15_uc002gld.2_Missense_Mutation_p.S655L|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S544L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	655					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTCTTTGCCTCGCGCCCCCGC	0.642		NaN											0	0	0	0.003755	0	33	293				
MYH10	4628	broad.mit.edu	37	17	8424198	8424198	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:8424198C>G	uc002gll.2	-	17	2274	c.2178G>C	c.(2176-2178)CAG>CAC	p.Q726H	MYH10_uc002glm.2_Missense_Mutation_p.Q757H|MYH10_uc010cnx.2_Missense_Mutation_p.Q735H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	726	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGCAATACCTCTGTCTGAATT	0.398		NaN											0	0	0	0.000602	0	5	43				
FAM18B2	201158	broad.mit.edu	37	17	15406428	15406428	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:15406428G>A	uc002goq.2	-	6	764	c.581C>T	c.(580-582)TCG>TTG	p.S194L	CDRT4_uc010vvw.1_Missense_Mutation_p.S151L|FAM18B2_uc010vvx.1_Intron	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	hypothetical protein LOC201158 isoform 1	194						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		AAACTTCCTCGAGGGATggcc	0.264		NaN											0	0	0	0.004672	0	3	20				
TRIM16	10626	broad.mit.edu	37	17	15532172	15532172	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:15532172C>T	uc002gox.2	-	9	2009	c.1452G>A	c.(1450-1452)GAG>GAA	p.E484E	TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Silent_p.E268E|TRIM16_uc002goy.2_Silent_p.E354E	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	484	B30.2/SPRY.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGAGTGGGGTCTCCATGTCAC	0.552		NaN											0	0	0	0.010504	0	21	80				
TOP3A	7156	broad.mit.edu	37	17	18188586	18188586	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:18188586C>T	uc002gsx.1	-	15	1976	c.1747G>A	c.(1747-1749)GAC>AAC	p.D583N	TOP3A_uc010cpz.1_Missense_Mutation_p.D35N|TOP3A_uc010vxr.1_Missense_Mutation_p.D113N|TOP3A_uc002gsw.1_Missense_Mutation_p.D35N|TOP3A_uc010vxs.1_Missense_Mutation_p.D481N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	583					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GCCCGGAGGTCAGGCTTAGAC	0.517		NaN											0	0	0	0.004007	0	17	61				
RPL23A	6147	broad.mit.edu	37	17	27047838	27047838	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:27047838C>T	uc002hci.2	+	2	163	c.139C>T	c.(139-141)CGG>TGG	p.R47W	RAB34_uc002hce.2_5'Flank|RAB34_uc002hcg.2_5'Flank|RAB34_uc002hcf.2_5'Flank|RAB34_uc010was.1_5'Flank|RAB34_uc010wat.1_5'Flank|RAB34_uc002hch.2_5'Flank|RAB34_uc010wau.1_5'Flank|RAB34_uc010wav.1_5'Flank|RPL23A_uc002hck.1_RNA|SNORD4A_uc002hcl.2_5'Flank|SNORD42A_uc002hcm.1_5'Flank|SNORD4B_uc002hcn.1_5'Flank	NM_000984	NP_000975	P62750	RL23A_HUMAN	ribosomal protein L23a	47					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			ovary(1)	1	Lung NSC(42;0.00431)					ACCCACCTTCCGGCGGCCGAA	0.537		NaN									OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	19	49				
CPD	1362	broad.mit.edu	37	17	28747979	28747979	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:28747979C>T	uc002hfb.1	+	3	1130	c.1115C>T	c.(1114-1116)TCT>TTT	p.S372F	CPD_uc010wbo.1_Missense_Mutation_p.S125F|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	372	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AATCGTGAGTCTTTGATCACA	0.398		NaN											0	0	0	0.001168	0	5	61				
CPD	1362	broad.mit.edu	37	17	28749808	28749808	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:28749808C>G	uc002hfb.1	+	5	1439	c.1424C>G	c.(1423-1425)TCA>TGA	p.S475*	CPD_uc010wbo.1_Nonsense_Mutation_p.S228*|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	475	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GAGGCTGTATCAACTGCTAGC	0.448		NaN											0	0	0	0.001984	0	7	117				
ATAD5	79915	broad.mit.edu	37	17	29184080	29184080	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:29184080G>A	uc002hfs.1	+	8	3089	c.2743G>A	c.(2743-2745)GAA>AAA	p.E915K	ATAD5_uc002hft.1_Missense_Mutation_p.E812K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	915					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGCTCTTGGTGAATTTTCAAC	0.353		NaN											0	0	0	0.006122	0	19	43				
ATAD5	79915	broad.mit.edu	37	17	29221167	29221167	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:29221167G>C	uc002hfs.1	+	21	5642	c.5296G>C	c.(5296-5298)GAC>CAC	p.D1766H		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1766					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCTAATTTAGAGTAAGTCTT	0.294		NaN											0	0	0	0.009096	0	4	31				
RHOT1	55288	broad.mit.edu	37	17	30525994	30525994	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:30525994G>A	uc002hgz.2	+	12	1137	c.898G>A	c.(898-900)GAA>AAA	p.E300K	RHOT1_uc002hgw.2_Missense_Mutation_p.E300K|RHOT1_uc002hgy.2_Missense_Mutation_p.E300K|RHOT1_uc002hha.2_Missense_Mutation_p.E173K|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.E173K|RHOT1_uc010wby.1_Missense_Mutation_p.E300K|RHOT1_uc002hhb.2_Missense_Mutation_p.E279K|RHOT1_uc002hgv.2_Missense_Mutation_p.E300K	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 3	300	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTGCACTACTGAATTAAATCA	0.239		NaN											0	0	0	0.005443	0	26	82				
RDM1	201299	broad.mit.edu	37	17	34251717	34251717	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:34251717C>T	uc002hkh.2	-	4	508	c.459G>A	c.(457-459)CCG>CCA	p.P153P	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.P130P|RDM1_uc002hkg.3_Silent_p.P130P|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.P153P|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.P130P|RDM1_uc002hki.2_Silent_p.P153P	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	153					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCTTTGCTTCGGAAGTGGCA	0.468		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.008361	0	32	82				
MRM1	79922	broad.mit.edu	37	17	34964210	34964210	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:34964210C>T	uc002hne.2	+	3	956	c.741C>T	c.(739-741)CTC>CTT	p.L247L	MRM1_uc002hnf.2_Silent_p.L52L	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	247					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGAGTTCCTCTGGGAACGGC	0.612		NaN											0	0	0	0.003163	0	15	87				
ACACA	31	broad.mit.edu	37	17	35614676	35614676	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:35614676G>C	uc002hnm.2	-	14	1855	c.1664C>G	c.(1663-1665)TCT>TGT	p.S555C	ACACA_uc002hnk.2_Missense_Mutation_p.S477C|ACACA_uc002hnl.2_Missense_Mutation_p.S497C|ACACA_uc002hnn.2_Missense_Mutation_p.S555C|ACACA_uc002hno.2_Missense_Mutation_p.S592C|ACACA_uc010cuz.2_Missense_Mutation_p.S555C	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	555	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACCAAACTGAGAATCAGCAAA	0.393		NaN											0	0	0	0.008291	0	11	63				
ZPBP2	124626	broad.mit.edu	37	17	38027018	38027018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:38027018G>T	uc002hte.2	+	3	343	c.190G>T	c.(190-192)GAA>TAA	p.E64*	ZPBP2_uc002htf.2_Nonsense_Mutation_p.E42*	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2	64					binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCTAAAAAAGAAATAGTGGA	0.284		NaN											1	0	3.59834e-05	0.001168	3.69621e-05	5	58				
ZPBP2	124626	broad.mit.edu	37	17	38027764	38027764	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:38027764G>C	uc002hte.2	+	4	445	c.292G>C	c.(292-294)GAT>CAT	p.D98H	ZPBP2_uc002htf.2_Missense_Mutation_p.D76H	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2	98					binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGGTGAAAGATTTTTTGGA	0.284		NaN											0	0	0	0.006122	0	17	131				
ACLY	47	broad.mit.edu	37	17	40028327	40028327	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:40028327C>T	uc002hyg.2	-	24	2914	c.2751G>A	c.(2749-2751)GGG>GGA	p.G917G	ACLY_uc002hyh.2_Silent_p.G907G|ACLY_uc002hyi.2_Silent_p.G971G|ACLY_uc010wfx.1_Silent_p.G961G|ACLY_uc010wfy.1_Silent_p.G646G	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	917				AGKD -> TAVE (in Ref. 1; CAA45614).	ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CCAGGTCTTTCCCAGCTCGCG	0.567		NaN											0	0	0	0.009096	0	4	37				
ACLY	47	broad.mit.edu	37	17	40039486	40039486	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:40039486C>A	uc002hyg.2	-	20	2318	c.2155_splice	c.e20-1	p.I719_splice	ACLY_uc002hyh.2_Splice_Site_p.I709_splice|ACLY_uc002hyi.2_Splice_Site_p.I773_splice|ACLY_uc010wfx.1_Splice_Site_p.I763_splice|ACLY_uc010wfy.1_Splice_Site_p.I448_splice	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1						ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TGCCCCCAATCTGCCAAGGAA	0.517		NaN											1	0	1.33986e-20	0.004656	1.4679e-20	26	37				
PLEKHM1	9842	broad.mit.edu	37	17	43515225	43515225	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:43515225C>T	uc002ija.2	-	12	3340	c.3170G>A	c.(3169-3171)TGA>TAA	p.*1057*	PLEKHM1_uc010wjm.1_Silent_p.*1029*|PLEKHM1_uc002ijb.2_Silent_p.*532*	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	1057					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					AGATGGGCATCAGGCGAAAAT	0.627		NaN											0	0	0	0.000602	0	5	42				
OSBPL7	114881	broad.mit.edu	37	17	45897373	45897373	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:45897373G>A	uc002ilx.1	-	3	368	c.165C>T	c.(163-165)CTC>CTT	p.L55L		NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	55	PH.				lipid transport		lipid binding				0						TCCTCTTCTTGAGCAGGTGAC	0.652		NaN											0	0	0	0.004672	0	3	24				
OSBPL7	114881	broad.mit.edu	37	17	45897592	45897592	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:45897592G>C	uc002ilx.1	-	2	256	c.53C>G	c.(52-54)TCA>TGA	p.S18*		NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	18					lipid transport		lipid binding				0						GCTGGGCTTTGAGGACTGAGC	0.637		NaN											0	0	0	0.009096	0	4	24				
ABCC3	8714	broad.mit.edu	37	17	48735563	48735563	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:48735563G>A	uc002isl.2	+	5	687	c.607G>A	c.(607-609)GAC>AAC	p.D203N	ABCC3_uc002isk.3_Missense_Mutation_p.D203N	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	203	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAAGAATGTCGACCCTGTGAG	0.567		NaN											0	0	0	0.00499	0	15	74				
TRIM25	7706	broad.mit.edu	37	17	54991173	54991173	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:54991173C>T	uc002iut.2	-	1	237	c.177G>A	c.(175-177)GCG>GCA	p.A59A	TRIM25_uc010dcj.2_5'UTR	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	59					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GCTGCGGTCGCGCCTGGTAGA	0.692		NaN											0	0	0	0.004672	0	3	7				
BZRAP1	9256	broad.mit.edu	37	17	56405156	56405156	+	Silent	SNP	G	G	A	rs148586326		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:56405156G>A	uc002ivx.3	-	1	997	c.126C>T	c.(124-126)ATC>ATT	p.I42I	BZRAP1_uc010dcs.2_Silent_p.I42I|BZRAP1_uc010wnt.1_Silent_p.I42I|uc010dct.1_5'Flank|uc010dcu.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	42						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTATCAGCGATGCTTGGGG	0.637		NaN											0	0	0	0.009096	0	4	31				
INTS2	57508	broad.mit.edu	37	17	59949655	59949655	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:59949655C>T	uc002izn.2	-	20	2849	c.2773G>A	c.(2773-2775)GAA>AAA	p.E925K	INTS2_uc002izm.2_Missense_Mutation_p.E917K	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	925					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TTTTTCAATTCTTCCCTGGTA	0.388		NaN											0	0	0	0.00245	0	14	28				
SCN4A	6329	broad.mit.edu	37	17	62018968	62018968	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:62018968C>T	uc002jds.1	-	24	4751	c.4674G>A	c.(4672-4674)GAG>GAA	p.E1558E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1558	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TGCCCGGGTTCTCCAGGTTGG	0.602		NaN											0	0	0	0.001855	0	13	28				
CACNG1	786	broad.mit.edu	37	17	65052309	65052309	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:65052309C>T	uc002jfu.2	+	4	662	c.591C>T	c.(589-591)CTC>CTT	p.L197L		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	197	Helical; (Potential).				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TCGGCGGTCTCGCCCTCCTGC	0.612		NaN											0	0	0	0.010729	0	11	63				
MAP2K6	5608	broad.mit.edu	37	17	67519677	67519677	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:67519677C>T	uc002jij.2	+	8	846	c.558C>T	c.(556-558)CTC>CTT	p.L186L		NM_002758	NP_002749	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	186	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|pancreas(1)	5	Breast(10;6.05e-10)					CTAATGTACTCATCAATGCTC	0.448		NaN											0	0	0	0.01441	0	75	136				
DNAI2	64446	broad.mit.edu	37	17	72297244	72297244	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:72297244C>T	uc002jkf.2	+	8	1023	c.924C>T	c.(922-924)ATC>ATT	p.I308I	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	308					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						TCTTGGACATCACCAAGAAGG	0.547		NaN							Kartagener_syndrome				0	0	0	0.01441	0	61	78				
TMEM104	54868	broad.mit.edu	37	17	72832682	72832682	+	Silent	SNP	C	C	T	rs147463051	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:72832682C>T	uc002jls.3	+	10	1509	c.1347C>T	c.(1345-1347)ACC>ACT	p.T449T	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.T449T	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	449	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					GCAGGGACACCCAGCTGGCCT	0.642		NaN											0	0	0	0.009096	0	4	48				
ACOX1	51	broad.mit.edu	37	17	73945836	73945836	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr17:73945836C>T	uc002jqf.2	-	10	1731	c.1441G>A	c.(1441-1443)GAA>AAA	p.E481K	ACOX1_uc010wsq.1_Missense_Mutation_p.E443K|ACOX1_uc002jqe.2_Missense_Mutation_p.E481K|ACOX1_uc010wsr.1_Missense_Mutation_p.E413K	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	481					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						GTTAGGCTTTCGGGGCTGTTG	0.572		NaN											0	0	0	0.00308	0	7	55				
GATA6	2627	broad.mit.edu	37	18	19762943	19762943	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:19762943C>G	uc002ktt.1	+	6	1824	c.1559C>G	c.(1558-1560)TCT>TGT	p.S520C	GATA6_uc002ktu.1_Missense_Mutation_p.S520C	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	520					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTTCCACCTCTTCTAACTCA	0.393		NaN											0	0	0	0.01441	0	76	51				
NPC1	4864	broad.mit.edu	37	18	21121061	21121061	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:21121061G>C	uc002kum.3	-	16	2759	c.2485C>G	c.(2485-2487)CTG>GTG	p.L829V	NPC1_uc010xaz.1_Missense_Mutation_p.L562V|NPC1_uc010xba.1_Missense_Mutation_p.L674V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	829					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTTTAGCAGAAGTGGAGAA	0.443		NaN											0	0	0	0.007413	0	18	186				
NPC1	4864	broad.mit.edu	37	18	21123451	21123451	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:21123451G>A	uc002kum.3	-	14	2487	c.2213C>T	c.(2212-2214)TCA>TTA	p.S738L	NPC1_uc010xaz.1_Missense_Mutation_p.S471L|NPC1_uc010xba.1_Missense_Mutation_p.S583L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	738	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAAAAGGATGACAGGAACAT	0.453		NaN											0	0	0	0.001855	0	11	151				
ASXL3	80816	broad.mit.edu	37	18	31323636	31323636	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:31323636C>T	uc010dmg.1	+	12	3879	c.3824C>T	c.(3823-3825)TCT>TTT	p.S1275F	ASXL3_uc002kxq.2_Missense_Mutation_p.S982F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1275	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ACTACAATTTCTGCTTGTAAT	0.393		NaN											0	0	0	0.001168	0	5	77				
MYO5B	4645	broad.mit.edu	37	18	47500910	47500910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:47500910G>A	uc002leb.2	-	10	1420	c.1132C>T	c.(1132-1134)CAT>TAT	p.H378Y	MYO5B_uc002lec.1_Missense_Mutation_p.H377Y	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	378	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AGCTTGCGATGACACAGCCAG	0.577		NaN											0	0	0	0.01441	0	49	37				
C18orf54	162681	broad.mit.edu	37	18	51898905	51898905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:51898905C>T	uc002lfn.3	+	6	1029	c.913C>T	c.(913-915)CAA>TAA	p.Q305*	C18orf54_uc002lfo.3_Nonsense_Mutation_p.Q466*	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	305						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTTAACCTTCAAGCAGTACA	0.338		NaN											0	0	0	0.00333	0	25	64				
CCDC102B	79839	broad.mit.edu	37	18	66564576	66564576	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:66564576G>A	uc002lkk.2	+	8	1397	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	CCDC102B_uc002lki.2_Missense_Mutation_p.E392K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E392K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	392	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAAATGGAAGAGCTTTTGGA	0.393		NaN											0	0	0	0.010729	0	12	83				
CNDP2	55748	broad.mit.edu	37	18	72186206	72186206	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr18:72186206G>C	uc002llm.1	+	11	1395	c.1233G>C	c.(1231-1233)TTG>TTC	p.L411F	CNDP2_uc002lln.1_Missense_Mutation_p.L327F|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	411						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AGCCAGACTTGACCAGGGAAG	0.557		NaN											0	0	0	0.005524	0	36	32				
CSNK1G2	1455	broad.mit.edu	37	19	1969891	1969891	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:1969891G>A	uc002lul.3	+	3	643	c.120G>A	c.(118-120)CTG>CTA	p.L40L	CSNK1G2_uc010dsu.2_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	40					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGTCCTGATGGTGGGCC	0.706		NaN											0	0	0	0.008291	0	8	4				
NCLN	56926	broad.mit.edu	37	19	3186161	3186161	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:3186161G>C	uc002lxi.2	+	1	287	c.133G>C	c.(133-135)GAG>CAG	p.E45Q	NCLN_uc002lxh.1_RNA	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	45	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGCACGAGTTCACCGT	0.721		NaN											0	0	0	0.00308	0	7	8				
ZNF799	90576	broad.mit.edu	37	19	12502718	12502718	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:12502718C>G	uc010dyt.2	-	4	644	c.494G>C	c.(493-495)GGA>GCA	p.G165A	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TGGTTTCTTTCCAGTGTGAAG	0.428		NaN											0	0	0	0.001168	0	6	100				
GIPC1	10755	broad.mit.edu	37	19	14591576	14591576	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:14591576G>A	uc002myt.2	-	5	573	c.303C>T	c.(301-303)ACC>ACT	p.T101T	GIPC1_uc002myu.2_Silent_p.T101T|GIPC1_uc002myv.2_Silent_p.T4T|GIPC1_uc002myw.2_Silent_p.T4T|GIPC1_uc002myx.2_Silent_p.T101T|GIPC1_uc002myy.2_Silent_p.T4T	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	101					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						GGGTGTTCAGGGTGCAGAACA	0.612		NaN									OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	6	39				
ARMC6	93436	broad.mit.edu	37	19	19168416	19168416	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:19168416G>C	uc002nld.2	+	9	1833	c.1485G>C	c.(1483-1485)CAG>CAC	p.Q495H	ARMC6_uc002nlc.2_Missense_Mutation_p.Q470H|ARMC6_uc010xql.1_Missense_Mutation_p.Q402H|ARMC6_uc002nle.2_Missense_Mutation_p.Q470H|ARMC6_uc010xqm.1_Missense_Mutation_p.Q495H	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	495							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGACAGGCCAGAGGGGCAACC	0.652		NaN											0	0	0	0.001168	0	5	29				
GMIP	51291	broad.mit.edu	37	19	19745863	19745863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:19745863C>T	uc002nnd.2	-	16	1837	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K	GMIP_uc010xrb.1_Missense_Mutation_p.E548K|GMIP_uc010xrc.1_Missense_Mutation_p.E545K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	574	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TGTTCTATCTCAGCCGTGCAC	0.597		NaN											0	0	0	0.00499	0	17	92				
ZNF208	7757	broad.mit.edu	37	19	22156691	22156691	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:22156691G>C	uc002nqp.2	-	4	1294	c.1145C>G	c.(1144-1146)TCA>TGA	p.S382*	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAGGGTTGAGGGCCACTT	0.368		NaN											0	0	0	0.003163	0	12	60				
SLC7A9	11136	broad.mit.edu	37	19	33334854	33334854	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:33334854G>A	uc002ntv.3	-	10	1098	c.981C>T	c.(979-981)CTC>CTT	p.L327L	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.L327L|SLC7A9_uc002ntw.3_Silent_p.L118L	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	327	Cytoplasmic (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCACGTAAATGAGTCTGGAAA	0.577		NaN											0	0	0	0.000602	0	5	37				
ZNF585B	92285	broad.mit.edu	37	19	37676275	37676275	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:37676275C>T	uc002ofq.2	-	5	2418	c.2164G>A	c.(2164-2166)GAG>AAG	p.E722K	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.E536K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	722	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACACTCAGCACACACG	0.463		NaN											0	0	0	0.007413	0	18	121				
HIPK4	147746	broad.mit.edu	37	19	40886303	40886303	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:40886303G>A	uc002onp.2	-	3	1880	c.1595C>T	c.(1594-1596)TCT>TTT	p.S532F		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	532						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCTCAGCAGAGGCCCCGAG	0.607		NaN											0	0	0	0.001984	0	7	68				
LIPE	3991	broad.mit.edu	37	19	42906092	42906092	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:42906092C>G	uc002otr.2	-	10	3380	c.3103G>C	c.(3103-3105)GAG>CAG	p.E1035Q	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	1035					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TGGCGCGTCTCGCGGCACAGC	0.756		NaN											0	0	0	0.004672	0	2	3				
PSG1	5669	broad.mit.edu	37	19	43382132	43382132	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43382132G>A	uc002ovb.2	-	2	501	c.363C>T	c.(361-363)ACC>ACT	p.T121T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.T121T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.T121T|PSG1_uc010eio.1_Silent_p.T121T|PSG1_uc002oux.1_Silent_p.T50T|PSG1_uc002ouy.1_Silent_p.T121T|PSG1_uc002ouz.1_Silent_p.T121T|PSG1_uc002ova.1_Silent_p.T121T|PSG1_uc002ovc.2_Silent_p.T121T|PSG1_uc002ovd.1_Silent_p.T121T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	121	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.478		NaN											0	0	0	0.01441	0	31	280				
PSG7	5676	broad.mit.edu	37	19	43430668	43430668	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43430668C>T	uc002ovl.3	-	5	1012	c.910G>A	c.(910-912)GAA>AAA	p.E304K	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.E182K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	304	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.498		NaN											0	0	0	0.01441	0	49	276				
PSG7	5676	broad.mit.edu	37	19	43439684	43439684	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:43439684A>G	uc002ovl.3	-	3	404	c.302T>C	c.(301-303)GTA>GCA	p.V101A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	101	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ATTGGAATATACTGTTTCTCA	0.418		NaN											0	0	0	0.003755	0	30	585				
ZNF230	7773	broad.mit.edu	37	19	44514752	44514752	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:44514752G>C	uc002oyb.1	+	5	812	c.561G>C	c.(559-561)CAG>CAC	p.Q187H		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	187	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GTATTCACCAGAGAGTTCACT	0.458		NaN											0	0	0	0.01441	0	53	125				
ZC3H4	23211	broad.mit.edu	37	19	47569810	47569810	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:47569810C>T	uc002pga.3	-	15	3753	c.3715G>A	c.(3715-3717)GAG>AAG	p.E1239K	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701		NaN											0	0	0	0.009096	0	4	7				
RRAS	6237	broad.mit.edu	37	19	50138855	50138855	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:50138855C>T	uc002pop.1	-	6	680	c.635G>A	c.(634-636)GGC>GAC	p.G212D		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	212					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GCAGGGGCAGCCCCCGCCCTT	0.547		NaN											0	0	0	0.01441	0	50	72				
NAPSA	9476	broad.mit.edu	37	19	50864260	50864260	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:50864260C>T	uc002prx.2	-	5	659	c.606G>A	c.(604-606)CCG>CCA	p.P202P	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	202					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTACATCCATCGGGGGCCGAA	0.532		NaN											0	0	0	0.00623	0	38	77				
SHANK1	50944	broad.mit.edu	37	19	51219704	51219704	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:51219704A>G	uc002psx.1	-	2	306	c.287T>C	c.(286-288)ATC>ACC	p.I96T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	96					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCGTCCAGATGGTGGCATC	0.637		NaN											0	0	0	0.010504	0	20	45				
LIM2	3982	broad.mit.edu	37	19	51890572	51890572	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:51890572C>T	uc002pwm.2	-	2	170	c.126G>A	c.(124-126)CTG>CTA	p.L42L	LIM2_uc002pwl.2_Silent_p.L42L	NM_001161748	NP_001155220	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	42	Extracellular (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AGTACCGCCACAGGCCCTGGT	0.667		NaN											0	0	0	0.00333	0	23	85				
DPRX	503834	broad.mit.edu	37	19	54139969	54139969	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54139969G>C	uc002qcf.1	+	3	354	c.303G>C	c.(301-303)CTG>CTC	p.L101L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GTGTCGGCCTGAGAAATGCAG	0.527		NaN											0	0	0	0.006999	0	43	85				
DPRX	503834	broad.mit.edu	37	19	54139992	54139992	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54139992G>C	uc002qcf.1	+	3	377	c.326G>C	c.(325-327)AGA>ACA	p.R109T		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACACTACCCAGATTGCCCAAC	0.542		NaN											0	0	0	0.00874	0	44	81				
DPRX	503834	broad.mit.edu	37	19	54140199	54140199	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54140199C>G	uc002qcf.1	+	3	584	c.533C>G	c.(532-534)TCT>TGT	p.S178C		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGCTTCCATTCTGGCTCTCCT	0.388		NaN											0	0	0	0.008291	0	9	176				
VSTM1	284415	broad.mit.edu	37	19	54545425	54545425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:54545425C>G	uc002qcw.3	-	6	689	c.513G>C	c.(511-513)AAG>AAC	p.K171N	VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.K140N	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	171						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCATCTACCTCTTGGTGGATT	0.507		NaN											0	0	0	0.012213	0	31	146				
ZNF587	84914	broad.mit.edu	37	19	58370965	58370965	+	Silent	SNP	C	C	T	rs146642070		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:58370965C>T	uc002qql.2	+	3	1323	c.1185C>T	c.(1183-1185)CTC>CTT	p.L395L	ZNF587_uc002qqb.2_Silent_p.L352L|ZNF587_uc010yhh.1_Silent_p.L352L|ZNF587_uc002qqi.1_Silent_p.L352L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L394L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	395	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGGCAACCTCGTTCACCATC	0.468		NaN											0	0	0	0.01441	0	103	129				
CHMP2A	27243	broad.mit.edu	37	19	59063424	59063424	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:59063424C>T	uc002qti.2	-	3	903	c.477G>A	c.(475-477)GAG>GAA	p.E159E	CHMP2A_uc002qtj.2_Silent_p.E159E|CHMP2A_uc002qtk.2_Silent_p.E159E	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	159	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCCATACCTCTCCTCTTCAT	0.517		NaN											0	0	0	0.010729	0	11	193				
CHMP2A	27243	broad.mit.edu	37	19	59063429	59063429	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr19:59063429C>T	uc002qti.2	-	3	898	c.472G>A	c.(472-474)GAG>AAG	p.E158K	CHMP2A_uc002qtj.2_Missense_Mutation_p.E158K|CHMP2A_uc002qtk.2_Missense_Mutation_p.E158K	NM_198426	NP_940818	O43633	CHM2A_HUMAN	chromatin modifying protein 2A	158	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TACCTCTCCTCTTCATCTTCC	0.512		NaN											0	0	0	0.001855	0	12	204				
MYT1L	23040	broad.mit.edu	37	2	1906969	1906969	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:1906969C>G	uc002qxe.2	-	14	2742	c.1915G>C	c.(1915-1917)GAG>CAG	p.E639Q	MYT1L_uc002qxd.2_Missense_Mutation_p.E637Q|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	639					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAATATTTCTCGAGCTCCTTG	0.498		NaN											0	0	0	0.00308	0	8	81				
MYT1L	23040	broad.mit.edu	37	2	1926917	1926917	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:1926917G>A	uc002qxe.2	-	10	1451	c.624C>T	c.(622-624)CTC>CTT	p.L208L	MYT1L_uc002qxd.2_Silent_p.L208L|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	208					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGATTTTGCCGAGGTTTAACA	0.423		NaN											0	0	0	0.007413	0	19	50				
KIDINS220	57498	broad.mit.edu	37	2	8870993	8870993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:8870993G>A	uc002qzc.2	-	30	5355	c.5173C>T	c.(5173-5175)CAG>TAG	p.Q1725*	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q1626*|KIDINS220_uc002qzb.2_Nonsense_Mutation_p.Q579*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1725	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCATTCTGAATAGTGGTT	0.463		NaN											0	0	0	0.010504	0	19	61				
TAF1B	9014	broad.mit.edu	37	2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:10045054C>T	uc002qzz.2	+	9	974	c.874C>T	c.(874-876)CGT>TGT	p.R292C	TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	292					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378		NaN											0	0	0	0.004482	0	8	136				
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:21233505C>T	uc002red.2	-	26	6363	c.6235G>A	c.(6235-6237)GAA>AAA	p.E2079K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2079	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTGCAAGGTC	0.343		NaN											0	0	0	0.012319	0	22	79				
ITSN2	50618	broad.mit.edu	37	2	24483991	24483991	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24483991G>A	uc002rfe.2	-	22	2924	c.2666C>T	c.(2665-2667)TCA>TTA	p.S889L	ITSN2_uc002rff.2_Missense_Mutation_p.S862L|ITSN2_uc002rfg.2_Missense_Mutation_p.S889L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	889					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAATAGGTGATACAGATCC	0.343		NaN											0	0	0	0.012319	0	20	49				
NCOA1	8648	broad.mit.edu	37	2	24896249	24896249	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24896249G>A	uc002rfk.2	+	5	529	c.271G>A	c.(271-273)GAT>AAT	p.D91N	NCOA1_uc010eye.2_Missense_Mutation_p.D91N|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.D91N|NCOA1_uc002rfl.2_Missense_Mutation_p.D91N	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	91									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAACAACTGATGACGATGT	0.348		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.004656	0	24	103				
NCOA1	8648	broad.mit.edu	37	2	24896300	24896300	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:24896300G>C	uc002rfk.2	+	5	580	c.322G>C	c.(322-324)GAA>CAA	p.E108Q	NCOA1_uc010eye.2_Missense_Mutation_p.E108Q|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.E108Q|NCOA1_uc002rfl.2_Missense_Mutation_p.E108Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	108									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGTGATAGAAAAGGAATC	0.338		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.012213	0	30	105				
ASXL2	55252	broad.mit.edu	37	2	26029159	26029159	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:26029159G>A	uc002rgs.2	-	3	412	c.191C>T	c.(190-192)TCC>TTC	p.S64F		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCTCTGGAGTTTGTGTG	0.388		NaN											0	0	0	0.000602	0	4	32				
DPY30	84661	broad.mit.edu	37	2	32264363	32264363	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:32264363G>C	uc002roa.1	-	3	288	c.69C>G	c.(67-69)CTC>CTG	p.L23L	MEMO1_uc010ymv.1_RNA|DPY30_uc002rob.1_Silent_p.L23L	NM_032574	NP_115963	Q9C005	DPY30_HUMAN	dpy-30-like protein	23					endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity				0	Acute lymphoblastic leukemia(172;0.155)					CGTTGTCTGTGAGACCGTACT	0.493		NaN											0	0	0	0.00499	0	16	112				
VIT	5212	broad.mit.edu	37	2	36994259	36994259	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:36994259G>A	uc002rpl.2	+	7	731	c.510G>A	c.(508-510)CAG>CAA	p.Q170Q	VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Silent_p.Q163Q|VIT_uc010ezv.2_Silent_p.Q163Q|VIT_uc010ezw.2_Silent_p.Q163Q	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	170						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				AAGCCTATCAGAGGCCACCTA	0.468		NaN											0	0	0	0.006214	0	8	33				
ARHGAP25	9938	broad.mit.edu	37	2	69045056	69045056	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:69045056C>T	uc002seu.2	+	8	1294	c.930C>T	c.(928-930)GAC>GAT	p.D310D	ARHGAP25_uc010fdg.2_Silent_p.D311D|ARHGAP25_uc010yql.1_Silent_p.D271D|ARHGAP25_uc002sev.2_Silent_p.D304D|ARHGAP25_uc002sew.2_Silent_p.D303D|ARHGAP25_uc002sex.2_Silent_p.D304D|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Silent_p.D37D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	310	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TGAGTGTGGACAACCTGGCTA	0.488		NaN											0	0	0	0.004656	0	27	37				
TACR1	6869	broad.mit.edu	37	2	75280808	75280808	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:75280808C>T	uc002sng.2	-	3	1244	c.659G>A	c.(658-660)GGA>GAA	p.G220E	TACR1_uc002snh.2_Missense_Mutation_p.G220E	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	220	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGTGTGATTCCCACTACGGT	0.552		NaN									OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	44				
LRRTM1	347730	broad.mit.edu	37	2	80529917	80529917	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:80529917G>A	uc002sok.1	-	2	1298	c.1028C>T	c.(1027-1029)GCC>GTC	p.A343V	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	343	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CTCCGGGCTGGCGCACTGCAA	0.677		NaN								HNSCC(69;0.2)			0	0	0	0.00308	0	8	13				
TGOLN2	10618	broad.mit.edu	37	2	85554310	85554310	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:85554310G>A	uc010fgd.1	-	2	834	c.545C>T	c.(544-546)TCG>TTG	p.S182L	TGOLN2_uc002soz.2_Missense_Mutation_p.S182L|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.S182L|TGOLN2_uc002spc.1_Missense_Mutation_p.S182L	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	182	Extracellular (Potential).|10.|14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						GTCCGCACCCGACTTATTAGG	0.592		NaN											0	0	0	0.01441	0	217	378				
PTCD3	55037	broad.mit.edu	37	2	86364195	86364195	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:86364195C>T	uc002sqw.2	+	23	1977	c.1911C>T	c.(1909-1911)TTC>TTT	p.F637F	PTCD3_uc002sqx.1_Silent_p.F227F	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	637						mitochondrion	protein binding			ovary(1)	1						CAAGTGCCTTCAGCTTACCTA	0.438		NaN											0	0	0	0.004656	0	27	169				
ACTR1B	10120	broad.mit.edu	37	2	98274919	98274919	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:98274919C>T	uc002syb.2	-	6	836	c.628G>A	c.(628-630)GAG>AAG	p.E210K		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	210						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						ACCTCAAACTCAGCCGAGGTA	0.617		NaN											0	0	0	0.004482	0	7	30				
AFF3	3899	broad.mit.edu	37	2	100210735	100210735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:100210735G>A	uc002tag.2	-	14	1624	c.1388C>T	c.(1387-1389)TCT>TTT	p.S463F	AFF3_uc002taf.2_Missense_Mutation_p.S488F|AFF3_uc010fiq.1_Missense_Mutation_p.S463F|AFF3_uc010yvr.1_Missense_Mutation_p.S616F|AFF3_uc002tah.1_Missense_Mutation_p.S488F	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	463					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCACTTGTTAGAGGATGCCGG	0.443		NaN											0	0	0	0.010818	0	32	214				
SEPT10	151011	broad.mit.edu	37	2	110332202	110332202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:110332202G>C	uc002tew.2	-	5	935	c.556C>G	c.(556-558)CTG>GTG	p.L186V	SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.L163V|SEPT10_uc002tey.2_Missense_Mutation_p.L186V|SEPT10_uc010ywv.1_Missense_Mutation_p.L52V|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	186					cell cycle|cell division	septin complex	GTP binding				0						AGTGTCTTCAGAGAGTGGCCT	0.383		NaN											0	0	0	0.007413	0	16	66				
TMEM87B	84910	broad.mit.edu	37	2	112858208	112858208	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:112858208C>T	uc002thm.2	+	15	1755	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	462						integral to membrane					0						GATATGCCTTCATGCCCTTAA	0.274		NaN											0	0	0	0.00308	0	7	68				
EN1	2019	broad.mit.edu	37	2	119600601	119600601	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:119600601G>C	uc002tlm.2	-	2	2108	c.1092C>G	c.(1090-1092)ATC>ATG	p.I364M		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	364					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						GGCCGTTCTTGATGCCTGTGG	0.587		NaN											0	0	0	0.00308	0	8	43				
CLASP1	23332	broad.mit.edu	37	2	122122825	122122825	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:122122825G>A	uc002tnc.2	-	35	4312	c.3922C>T	c.(3922-3924)CTG>TTG	p.L1308L	CLASP1_uc010yyv.1_Silent_p.L354L|CLASP1_uc002tmz.2_Silent_p.L393L|CLASP1_uc002tna.2_Silent_p.L354L|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.L1249L|CLASP1_uc010yza.1_Silent_p.L1241L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Silent_p.L144L|CLASP1_uc002tnf.2_Silent_p.L210L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1308	Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Potential.|Interaction with CLIP2 (By similarity).				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					AGCTCTTTCAGAAGGTCAGCC	0.572		NaN											0	0	0	0.004672	0	3	21				
POTEF	728378	broad.mit.edu	37	2	130843513	130843513	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:130843513C>G	uc010fmh.2	-	15	2052	c.1652G>C	c.(1651-1653)GGA>GCA	p.G551A		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	551						cell cortex	ATP binding			skin(3)|ovary(2)	5						TTCTGGGAATCCGACATGAGT	0.398		NaN											0	0	0	0.013726	0	32	16				
LRP1B	53353	broad.mit.edu	37	2	141533803	141533803	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:141533803C>T	uc002tvj.1	-	33	6336	c.5364G>A	c.(5362-5364)AAG>AAA	p.K1788K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1788	Extracellular (Potential).|LDL-receptor class B 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCACAGTTTCTTATCTAGAA	0.338		NaN								TSP Lung(27;0.18)			0	0	0	0.00308	0	8	34				
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:160050867G>C	uc002uag.2	+	17	3116	c.2842G>C	c.(2842-2844)GAG>CAG	p.E948Q	TANC1_uc010zcm.1_Missense_Mutation_p.E940Q|TANC1_uc010fom.1_Missense_Mutation_p.E754Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	948	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CCTTGGCCACGAGGAAGTTGT	0.557		NaN											0	0	0	0.00308	0	6	75				
MARCH7	64844	broad.mit.edu	37	2	160609027	160609027	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:160609027G>C	uc002uax.2	+	6	1850	c.1728G>C	c.(1726-1728)TTG>TTC	p.L576F	MARCH7_uc010foq.2_Missense_Mutation_p.L576F|MARCH7_uc010zcn.1_Missense_Mutation_p.L520F|MARCH7_uc010for.2_Missense_Mutation_p.L538F|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	576	RING-CH-type.						ligase activity|zinc ion binding				0						CAGGAAGTTTGCAGTATGTCC	0.383		NaN											0	0	0	0.01441	0	48	121				
DHRS9	10170	broad.mit.edu	37	2	169939910	169939910	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:169939910G>A	uc002uep.2	+	6	1889	c.385G>A	c.(385-387)GAC>AAC	p.D129N	DHRS9_uc002ueq.2_Missense_Mutation_p.D129N|DHRS9_uc010zdc.1_Missense_Mutation_p.D189N|DHRS9_uc010zdd.1_Missense_Mutation_p.D129N|DHRS9_uc010zde.1_Missense_Mutation_p.D129N	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	129					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						GACACTAGAGGACTACAGAGA	0.468		NaN											0	0	0	0.003163	0	16	119				
KBTBD10	10324	broad.mit.edu	37	2	170366331	170366331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:170366331C>T	uc002ueu.1	+	1	120	c.43C>T	c.(43-45)CAA>TAA	p.Q15*	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	15					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						GCGGCTTTACCAATCCACCCT	0.488		NaN											0	0	0	0.013114	0	47	102				
GAD1	2571	broad.mit.edu	37	2	171678617	171678617	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:171678617G>A	uc002ugi.2	+	3	525	c.103G>A	c.(103-105)GTG>ATG	p.V35M	GAD1_uc002ugh.2_Missense_Mutation_p.V35M	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	35					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGGTGCGGCGTGGCCCATGG	0.627		NaN											0	0	0	0.009096	0	4	12				
PLEKHA3	65977	broad.mit.edu	37	2	179368594	179368594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179368594C>T	uc002umn.2	+	8	1281	c.883C>T	c.(883-885)CTT>TTT	p.L295F		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	295						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAGATACTCTTCCATCCTT	0.368		NaN											0	0	0	0.004482	0	9	63				
TTN	7273	broad.mit.edu	37	2	179421813	179421813	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179421813C>A	uc010zfg.1	-	279	80588	c.80364G>T	c.(80362-80364)TGG>TGT	p.W26788C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W20483C|TTN_uc010zfi.1_Missense_Mutation_p.W20416C|TTN_uc010zfj.1_Missense_Mutation_p.W20291C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27715							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTGTTGCCATGAAAGGC	0.443		NaN											1	0	1.5739e-10	0.004007	1.67292e-10	15	17				
TTN	7273	broad.mit.edu	37	2	179641476	179641476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:179641476G>C	uc010zfg.1	-	28	5339	c.5115C>G	c.(5113-5115)TTC>TTG	p.F1705L	TTN_uc010zfh.1_Missense_Mutation_p.F1659L|TTN_uc010zfi.1_Missense_Mutation_p.F1659L|TTN_uc010zfj.1_Missense_Mutation_p.F1659L|TTN_uc002unb.2_Missense_Mutation_p.F1705L|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1705							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTTCTTGAAAAATGGTT	0.483		NaN											0	0	0	0.00308	0	8	57				
ZNF804A	91752	broad.mit.edu	37	2	185803228	185803228	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:185803228G>A	uc002uph.2	+	4	3699	c.3105G>A	c.(3103-3105)TTG>TTA	p.L1035L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1035						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AAGCATTATTGATCCCACTAG	0.413		NaN											0	0	0	0.004878	0	40	65				
WDR75	84128	broad.mit.edu	37	2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	rs116046757	byFrequency	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:190338996G>A	uc002uql.1	+	19	2194	c.2134G>A	c.(2134-2136)GAA>AAA	p.E712K	WDR75_uc002uqm.1_Missense_Mutation_p.E648K|WDR75_uc002uqn.1_Missense_Mutation_p.E490K|WDR75_uc002uqo.1_Missense_Mutation_p.E490K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363		NaN											0	0	0	0.006214	0	10	133				
MYO1B	4430	broad.mit.edu	37	2	192275892	192275892	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:192275892C>T	uc010fsg.2	+	27	3122	c.2867C>T	c.(2866-2868)CCA>CTA	p.P956L	MYO1B_uc002usq.2_Missense_Mutation_p.P898L|MYO1B_uc002usr.2_Missense_Mutation_p.P956L|MYO1B_uc002usu.2_Missense_Mutation_p.P201L|MYO1B_uc002usv.2_Missense_Mutation_p.P72L	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	956						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTTTATACCCATCTAGGTAT	0.358		NaN											0	0	0	0.012319	0	21	95				
GTF3C3	9330	broad.mit.edu	37	2	197654765	197654765	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:197654765G>A	uc002uts.2	-	5	655	c.565C>T	c.(565-567)CTA>TTA	p.L189L	GTF3C3_uc010zgu.1_Silent_p.L189L|GTF3C3_uc002utu.2_Silent_p.L189L	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	189	TPR 2.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ATCATGGCTAGAGTAGAGAAT	0.403		NaN											0	0	0	0.010729	0	11	54				
FN1	2335	broad.mit.edu	37	2	216272903	216272903	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:216272903C>T	uc002vfa.2	-	17	2712	c.2446G>A	c.(2446-2448)GAC>AAC	p.D816N	FN1_uc002vfb.2_Missense_Mutation_p.D816N|FN1_uc002vfc.2_Missense_Mutation_p.D816N|FN1_uc002vfd.2_Missense_Mutation_p.D816N|FN1_uc002vfe.2_Missense_Mutation_p.D816N|FN1_uc002vff.2_Missense_Mutation_p.D816N|FN1_uc002vfg.2_Missense_Mutation_p.D816N|FN1_uc002vfh.2_Missense_Mutation_p.D816N|FN1_uc002vfi.2_Missense_Mutation_p.D816N|FN1_uc002vfj.2_Missense_Mutation_p.D816N	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	816	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGTCGTGTCAGGAGGGGCA	0.502		NaN											0	0	0	0.000602	0	5	80				
SPHKAP	80309	broad.mit.edu	37	2	228881142	228881142	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:228881142C>T	uc002vpq.2	-	7	4475	c.4428G>A	c.(4426-4428)GTG>GTA	p.V1476V	SPHKAP_uc002vpp.2_Silent_p.V1476V|SPHKAP_uc010zlx.1_Silent_p.V1476V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1476						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACAAGCGCTCACGGCTGTGT	0.463		NaN											0	0	0	0.00333	0	23	107				
SP100	6672	broad.mit.edu	37	2	231327168	231327168	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr2:231327168C>G	uc002vqt.2	+	10	1133	c.992C>G	c.(991-993)TCT>TGT	p.S331C	SP100_uc002vqs.2_Missense_Mutation_p.S331C|SP100_uc002vqu.1_Missense_Mutation_p.S331C|SP100_uc010zmb.1_Missense_Mutation_p.S331C|SP100_uc002vqq.1_Missense_Mutation_p.S331C|SP100_uc002vqr.1_Missense_Mutation_p.S306C|SP100_uc010zmc.1_Missense_Mutation_p.S306C|SP100_uc002vqv.1_Missense_Mutation_p.S295C	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	331					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTGAGGACTCTGAAGGATCC	0.502		NaN											0	0	0	0.00278	0	21	23				
MAVS	57506	broad.mit.edu	37	20	3838392	3838392	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3838392G>A	uc002wjw.3	+	3	397	c.228G>A	c.(226-228)CTG>CTA	p.L76L	MAVS_uc002wjv.2_Silent_p.L76L|MAVS_uc010zqn.1_Silent_p.L76L|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	76	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						TTGCGGCACTGAGGGGCTGTG	0.637		NaN											0	0	0	0.013537	0	13	112				
MAVS	57506	broad.mit.edu	37	20	3838402	3838402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3838402G>A	uc002wjw.3	+	3	407	c.238G>A	c.(238-240)GAG>AAG	p.E80K	MAVS_uc002wjv.2_Missense_Mutation_p.E80K|MAVS_uc010zqn.1_Missense_Mutation_p.E80K|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	80	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GAGGGGCTGTGAGCTAGTTGA	0.632		NaN											0	0	0	0.001855	0	13	109				
MAVS	57506	broad.mit.edu	37	20	3842053	3842053	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3842053G>A	uc002wjw.3	+	4	536	c.367G>A	c.(367-369)GCT>ACT	p.A123T	MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	123	Pro-rich.|Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CCCCACACCTGCTGCGGCCCA	0.627		NaN											0	0	0	0.013537	0	12	100				
MAVS	57506	broad.mit.edu	37	20	3842137	3842137	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3842137G>C	uc002wjw.3	+	4	620	c.451G>C	c.(451-453)GAG>CAG	p.E151Q	MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_Missense_Mutation_p.E10Q|MAVS_uc002wjy.3_Intron	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	151	Pro-rich.|Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CCAGGCGCCAGAGTCCCCAGG	0.592		NaN											0	0	0	0.001984	0	6	65				
PANK2	80025	broad.mit.edu	37	20	3869936	3869936	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:3869936G>A	uc002wkc.2	+	1	195	c.189G>A	c.(187-189)CCG>CCA	p.P63P	uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	63					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						TTAGGGAGCCGACTGGACGCG	0.692		NaN											0	0	0	0.004672	0	3	5				
PLCB4	5332	broad.mit.edu	37	20	9459591	9459591	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:9459591G>A	uc002wnf.2	+	37	3619	c.3483G>A	c.(3481-3483)GTG>GTA	p.V1161V	PLCB4_uc010gbx.2_Silent_p.V1173V|PLCB4_uc002wne.2_Missense_Mutation_p.E1174K|PLCB4_uc002wnh.2_Silent_p.V1008V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1161					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AGCAGATGGTGAAATTGGAAG	0.458		NaN											0	0	0	0.00308	0	8	36				
SNAP25	6616	broad.mit.edu	37	20	10279959	10279959	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:10279959G>C	uc002wnq.1	+	7	663	c.451G>C	c.(451-453)GAG>CAG	p.E151Q	SNAP25_uc002wnr.1_Missense_Mutation_p.E151Q|SNAP25_uc002wns.1_Missense_Mutation_p.E88Q|SNAP25_uc010gca.1_Missense_Mutation_p.E151Q|SNAP25_uc010gcb.1_Missense_Mutation_p.E88Q|SNAP25_uc010gcc.1_Missense_Mutation_p.E45Q	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	151	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				skin(2)	2					Botulinum Toxin Type A(DB00083)	TGAAAACCTAGAGCAGGTGAG	0.468		NaN											0	0	0	0.01441	0	51	167				
TASP1	55617	broad.mit.edu	37	20	13514765	13514765	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:13514765G>A	uc002woi.2	-	9	816	c.699C>T	c.(697-699)GAC>GAT	p.D233D	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.D210D|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	233				D->A: 0.1% enzymatic activity; no intramolecular processing.	asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CGCCTACCGTGTCCAAAGTGC	0.512		NaN											0	0	0	0.003755	0	35	109				
ZNF133	7692	broad.mit.edu	37	20	18297183	18297183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:18297183C>G	uc010gcq.2	+	5	1993	c.1688C>G	c.(1687-1689)TCA>TGA	p.S563*	ZNF133_uc010zrv.1_Nonsense_Mutation_p.S566*|ZNF133_uc010zrw.1_Nonsense_Mutation_p.S500*|ZNF133_uc010gcr.2_Nonsense_Mutation_p.S563*|ZNF133_uc010zrx.1_Nonsense_Mutation_p.S468*|ZNF133_uc002wql.3_Nonsense_Mutation_p.S562*|ZNF133_uc010gcs.2_Nonsense_Mutation_p.S562*|ZNF133_uc010zry.1_Nonsense_Mutation_p.S468*|ZNF133_uc002wqm.2_Nonsense_Mutation_p.S563*	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	563	C2H2-type 13.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GGCAATAAGTCAGCTCTAATT	0.542		NaN											0	0	0	0.00278	0	23	51				
MYLK2	85366	broad.mit.edu	37	20	30409372	30409372	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:30409372G>A	uc002wwq.2	+	4	706	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	202					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCCTGGCAGAGAGCCAGAA	0.597		NaN											0	0	0	0.00333	0	26	63				
TGM2	7052	broad.mit.edu	37	20	36793594	36793594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:36793594C>T	uc002xhr.2	-	1	107	c.7G>A	c.(7-9)GAG>AAG	p.E3K	TGM2_uc010zvx.1_Missense_Mutation_p.E3K|TGM2_uc010zvy.1_Missense_Mutation_p.E3K|TGM2_uc002xhs.1_Missense_Mutation_p.E3K|TGM2_uc002xht.2_Missense_Mutation_p.E3K|TGM2_uc002xhu.3_Missense_Mutation_p.E3K	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	3					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TACTCACCCTCGGCCATGGTC	0.687		NaN											0	0	0	0.010504	0	18	24				
L3MBTL	26013	broad.mit.edu	37	20	42144735	42144735	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:42144735G>C	uc010zwh.1	+	7	760	c.714G>C	c.(712-714)GAG>GAC	p.E238D	L3MBTL_uc010ggk.1_Missense_Mutation_p.E170D|L3MBTL_uc002xkl.2_Missense_Mutation_p.E170D|L3MBTL_uc002xkm.2_Missense_Mutation_p.E170D|L3MBTL_uc010ggl.2_Missense_Mutation_p.E170D	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	170					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTACAGGAGAAGCAAGAAG	0.577		NaN											0	0	0	0.001984	0	6	33				
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:44258532A>T	uc002xoz.2	+	1	148	c.80A>T	c.(79-81)AAG>ATG	p.K27M	WFDC9_uc002xoy.2_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A precursor	27						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587		NaN									OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	4	40				
SLC2A10	81031	broad.mit.edu	37	20	45354112	45354112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:45354112G>A	uc002xsl.2	+	2	534	c.437G>A	c.(436-438)GGC>GAC	p.G146D		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	146	Helical; Name=5; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ATCACCGTGGGCATCCTGCTC	0.622		NaN											0	0	0	0.010504	0	20	99				
MOCS3	27304	broad.mit.edu	37	20	49576560	49576560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:49576560G>A	uc002xvy.1	+	1	1198	c.1181G>A	c.(1180-1182)TGG>TAG	p.W394*	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	394	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GAAGCAATCTGGGAAGAGAAG	0.498		NaN											0	0	0	0.01441	0	91	135				
GATA5	140628	broad.mit.edu	37	20	61040029	61040029	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:61040029C>A	uc002ycx.1	-	7	1119	c.1057G>T	c.(1057-1059)GAC>TAC	p.D353Y		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	353					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCAAGAGAGTCATCCTCCTGG	0.672		NaN											1	0	6.72482e-11	0.003163	7.17166e-11	14	24				
PRIC285	85441	broad.mit.edu	37	20	62194088	62194088	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr20:62194088G>A	uc002yfm.2	-	9	6979	c.6087C>T	c.(6085-6087)CTC>CTT	p.L2029L	PRIC285_uc002yfl.1_Silent_p.L1460L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2029					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCCAGGGCCGAGGCTGCTGG	0.697		NaN											0	0	0	0.000602	0	5	6				
ATP5J	522	broad.mit.edu	37	21	27101968	27101968	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:27101968C>A	uc002yls.2	-	2	811	c.138G>T	c.(136-138)AAG>AAT	p.K46N	ATP5J_uc002ylt.2_Missense_Mutation_p.K46N|ATP5J_uc002ylu.2_Missense_Mutation_p.K46N|ATP5J_uc002ylv.2_Missense_Mutation_p.K54N|ATP5J_uc002ylw.2_Missense_Mutation_p.K46N	NM_001685	NP_001676	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	46					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity				0						ATTCTCTAATCTTGTCCACAA	0.348		NaN											1	0	0.00024832	0.009096	0.000253452	4	25				
SFRS15	57466	broad.mit.edu	37	21	33069036	33069036	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:33069036C>T	uc002ypd.2	-	8	1231	c.805G>A	c.(805-807)GAT>AAT	p.D269N	SFRS15_uc002ype.2_Missense_Mutation_p.D269N|SFRS15_uc010glu.2_Missense_Mutation_p.D254N|SFRS15_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	269						nucleus	nucleotide binding|RNA binding				0						TCTGGCTCATCATCATAGTCA	0.423		NaN											0	0	0	0.006122	0	17	95				
GCFC1	94104	broad.mit.edu	37	21	34134491	34134491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:34134491C>T	uc002yqn.2	-	4	977	c.787G>A	c.(787-789)GAT>AAT	p.D263N	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D263N|GCFC1_uc002yqr.2_Missense_Mutation_p.D263N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	263						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TCTTCATCATCACTGGCATCA	0.403		NaN											0	0	0	0.006214	0	8	105				
MX2	4600	broad.mit.edu	37	21	42762521	42762521	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr21:42762521G>A	uc002yzf.1	+	6	866	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	254					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGTACATCCAGAGGCAGCAGA	0.557		NaN											0	0	0	0.006999	0	38	111				
DGCR2	9993	broad.mit.edu	37	22	19044633	19044633	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:19044633G>A	uc002zoq.1	-	6	916	c.668C>T	c.(667-669)TCG>TTG	p.S223L	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.S179L	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	223	Extracellular (Potential).|C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					AGACATGGCCGAGGCAAAGAT	0.592		NaN											0	0	0	0.009096	0	4	13				
CDC45	8318	broad.mit.edu	37	22	19470241	19470241	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:19470241G>C	uc002zpr.2	+	4	309	c.233G>C	c.(232-234)GGA>GCA	p.G78A	CDC45_uc011agz.1_Missense_Mutation_p.G73A|CDC45_uc011aha.1_Missense_Mutation_p.G78A|CDC45_uc002zps.2_Missense_Mutation_p.G78A|CDC45_uc002zpt.2_Intron	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	78					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						ATAAACTGTGGAGCTAATGTA	0.373		NaN											0	0	0	0.004482	0	8	132				
ZNF280A	129025	broad.mit.edu	37	22	22869392	22869392	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:22869392G>A	uc002zwe.2	-	2	816	c.563C>T	c.(562-564)CCA>CTA	p.P188L	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGGTACCCCTGGGATTCCATC	0.448		NaN											0	0	0	0.00245	0	13	141				
SMARCB1	6598	broad.mit.edu	37	22	24129380	24129380	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:24129380G>C	uc002zyb.2	+	1	231	c.24G>C	c.(22-24)AAG>AAC	p.K8N	SMARCB1_uc002zyg.2_Missense_Mutation_p.K8N|SMARCB1_uc011ajb.1_Missense_Mutation_p.K8N|SMARCB1_uc002zya.2_Missense_Mutation_p.K8N|SMARCB1_uc002zyc.2_Missense_Mutation_p.K8N|SMARCB1_uc002zyd.2_Missense_Mutation_p.K8N	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	8					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGCAAGACCTTCGGGC	0.682		NaN	D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				0	0	0	0.008291	0	11	38				
GGT5	2687	broad.mit.edu	37	22	24622208	24622208	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:24622208C>T	uc002zzo.3	-	8	1482	c.1065G>A	c.(1063-1065)GAG>GAA	p.E355E	GGT5_uc002zzp.3_Silent_p.E355E|GGT5_uc002zzr.3_Silent_p.E323E|GGT5_uc002zzq.3_Silent_p.E323E|GGT5_uc011ajm.1_Silent_p.E278E|GGT5_uc011ajn.1_RNA	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	355	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						GGGCCAGGGTCTCCCCCAGCA	0.677		NaN											0	0	0	0.001168	0	6	27				
SF3A1	10291	broad.mit.edu	37	22	30735229	30735229	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:30735229C>G	uc003ahl.2	-	10	1519	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	463					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						AAGCTGCTCTCAATATCCAGA	0.493		NaN											0	0	0	0.008291	0	9	132				
DRG1	4733	broad.mit.edu	37	22	31796663	31796663	+	Missense_Mutation	SNP	C	C	T	rs28369552		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:31796663C>T	uc003aku.2	+	2	231	c.100C>T	c.(100-102)CGT>TGT	p.R34C		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	34					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						GCTTAAGGCTCGTCTTGCTAA	0.458		NaN											0	0	0	0.003755	0	33	50				
APOL1	8542	broad.mit.edu	37	22	36661254	36661254	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:36661254G>A	uc003apf.2	+	6	540	c.372G>A	c.(370-372)ATG>ATA	p.M124I	APOL1_uc011amn.1_Missense_Mutation_p.M1I|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.M140I|APOL1_uc011amo.1_Missense_Mutation_p.M1I|APOL1_uc011amp.1_Missense_Mutation_p.M124I|APOL1_uc011amq.1_Missense_Mutation_p.M106I|APOL1_uc010gwx.2_Missense_Mutation_p.M1I	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	124					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						AAATGATCATGAAAGACAAAA	0.413		NaN											0	0	0	0.012319	0	21	68				
MYH9	4627	broad.mit.edu	37	22	36696992	36696992	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:36696992C>T	uc003apg.2	-	22	2974	c.2743G>A	c.(2743-2745)GAG>AAG	p.E915K	MYH9_uc003aph.1_Missense_Mutation_p.E779K	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	915	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGGCAGATCTCTTCTAATTCC	0.607		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.01441	0	54	76				
DMC1	11144	broad.mit.edu	37	22	38916075	38916075	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:38916075C>T	uc003avz.1	-	14	1148	c.973G>A	c.(973-975)GAA>AAA	p.E325K	DMC1_uc011anv.1_Missense_Mutation_p.E270K	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	325					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					AAGGTGGCTTCATTTTCAGGC	0.393		NaN						Homologous_recombination					0	0	0	0.003954	0	21	73				
ENTHD1	150350	broad.mit.edu	37	22	40139834	40139834	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:40139834C>T	uc003ayg.2	-	7	1925	c.1674G>A	c.(1672-1674)GCG>GCA	p.A558A		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	558	Potential.									ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ATCTAGCGATCGCACGTTTTA	0.413		NaN											0	0	0	0.00308	0	7	60				
CELSR1	9620	broad.mit.edu	37	22	46930167	46930167	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr22:46930167C>A	uc003bhw.1	-	1	2901	c.2901G>T	c.(2899-2901)TGG>TGT	p.W967C		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	967	Extracellular (Potential).|Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCCAGAGCCCAAAGGTTGT	0.597		NaN											1	0	5.26018e-13	0.012319	5.66616e-13	20	19				
CNTN6	27255	broad.mit.edu	37	3	1367574	1367574	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:1367574C>G	uc003boz.2	+	9	1289	c.1022C>G	c.(1021-1023)GCT>GGT	p.A341G	CNTN6_uc011asj.1_Missense_Mutation_p.A269G|CNTN6_uc003bpa.2_Missense_Mutation_p.A341G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	341	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAATGTAAAGCTAGTGGAAAG	0.398		NaN											0	0	0	0.006122	0	19	78				
CNTN6	27255	broad.mit.edu	37	3	1414637	1414637	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:1414637G>C	uc003boz.2	+	14	2051	c.1784G>C	c.(1783-1785)AGA>ACA	p.R595T	CNTN6_uc011asj.1_Missense_Mutation_p.R523T|CNTN6_uc003bpa.2_Missense_Mutation_p.R595T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	595					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATCATTGTTAGAGGTAAGCAT	0.353		NaN											0	0	0	0.001984	0	7	97				
LRRN1	57633	broad.mit.edu	37	3	3887485	3887485	+	Missense_Mutation	SNP	C	C	T	rs145675446	by1000genomes	TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:3887485C>T	uc003bpt.3	+	2	1921	c.1160C>T	c.(1159-1161)ACC>ATC	p.T387I	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	387	LRRCT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCCAACAAAACCAACATCCGC	0.493		NaN											0	0	0	0.007835	0	42	56				
BRPF1	7862	broad.mit.edu	37	3	9776368	9776368	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:9776368C>A	uc003bse.2	+	2	943	c.544C>A	c.(544-546)CGG>AGG	p.R182R	BRPF1_uc003bsf.2_Silent_p.R182R|BRPF1_uc003bsg.2_Silent_p.R182R|BRPF1_uc011ati.1_Silent_p.R182R	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	182	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GGTGGTCTATCGGGAGCTGGA	0.557		NaN											1	0	1.80694e-10	0.009535	1.91745e-10	30	54				
IL17RE	132014	broad.mit.edu	37	3	9945786	9945786	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:9945786C>T	uc003btu.2	+	4	336	c.219C>T	c.(217-219)GTC>GTT	p.V73V	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.V73V|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Silent_p.V73V|IL17RE_uc003btx.2_Intron|IL17RE_uc010hcq.2_Silent_p.V73V|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	73	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GTGTGCGAGTCTGGCACTGTT	0.532		NaN											0	0	0	0.01441	0	54	117				
FANCD2	2177	broad.mit.edu	37	3	10084780	10084780	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:10084780T>G	uc003buw.2	+	12	1013	c.935T>G	c.(934-936)TTG>TGG	p.L312W	FANCD2_uc003bux.1_Missense_Mutation_p.L312W|FANCD2_uc003buy.1_Missense_Mutation_p.L312W	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	312	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CATTGTGTTTTGCCATCACGG	0.428		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.012319	0	21	63				
SLC6A1	6529	broad.mit.edu	37	3	11067485	11067485	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:11067485C>T	uc010hdq.2	+	9	1287	c.876C>T	c.(874-876)ATC>ATT	p.I292I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	292	Helical; Name=6; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAACCCAGATCTTCTTCTCAT	0.517		NaN											0	0	0	0.006214	0	8	136				
RBMS3	27303	broad.mit.edu	37	3	29628627	29628627	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:29628627C>G	uc003cel.2	+	4	560	c.330C>G	c.(328-330)GAC>GAG	p.D110E	RBMS3_uc003cek.2_Missense_Mutation_p.D110E|RBMS3_uc010hfq.2_Missense_Mutation_p.D110E|RBMS3_uc003cem.2_Missense_Mutation_p.D109E|RBMS3_uc010hfr.2_Missense_Mutation_p.D110E	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	110	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TAGATTTTGACAGTCCTGCAG	0.403		NaN											0	0	0	0.000602	0	5	50				
C3orf39	84892	broad.mit.edu	37	3	43122498	43122498	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:43122498G>A	uc003cmq.1	-	2	567	c.426C>T	c.(424-426)TTC>TTT	p.F142F	C3orf39_uc003cmr.1_Silent_p.F142F	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	142						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GCTTGGGCATGAAGCGCAGGG	0.617		NaN											0	0	0	0.013537	0	11	95				
ZDHHC3	51304	broad.mit.edu	37	3	45000761	45000761	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:45000761G>C	uc003cod.2	-	2	442	c.168C>G	c.(166-168)CTC>CTG	p.L56L	ZDHHC3_uc003cog.2_Silent_p.L56L|ZDHHC3_uc011bad.1_Silent_p.L56L	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	56	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACTCCGCATAGAGGACCAGAA	0.537		NaN											0	0	0	0.004482	0	9	100				
ZDHHC3	51304	broad.mit.edu	37	3	45000794	45000794	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:45000794G>A	uc003cod.2	-	2	409	c.135C>T	c.(133-135)ATC>ATT	p.I45I	ZDHHC3_uc003cog.2_Silent_p.I45I|ZDHHC3_uc011bad.1_Silent_p.I45I	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	45	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGCACAGGCGATGCCACAGC	0.537		NaN											0	0	0	0.003163	0	14	105				
CCR3	1232	broad.mit.edu	37	3	46306895	46306895	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:46306895C>G	uc003cpg.1	+	4	789	c.246C>G	c.(244-246)CTC>CTG	p.L82L	CCR3_uc003cpi.1_Silent_p.L82L|CCR3_uc003cpj.1_Silent_p.L82L|CCR3_uc003cpk.1_Silent_p.L103L|CCR3_uc010hjb.1_Silent_p.L100L|CCR3_uc003cpl.1_Silent_p.L115L	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	82	Helical; Name=2; (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGACCTGCTCTTCCTCGTCA	0.498		NaN											0	0	0	0.013537	0	12	208				
USP4	7375	broad.mit.edu	37	3	49331930	49331930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:49331930G>A	uc003cwq.2	-	14	1872	c.1793C>T	c.(1792-1794)TCA>TTA	p.S598L	USP4_uc003cwo.2_Missense_Mutation_p.S310L|USP4_uc003cwp.2_Missense_Mutation_p.S328L|USP4_uc003cwr.2_Missense_Mutation_p.S551L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	598					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ATATAGCGCTGATGCGGAGGA	0.527		NaN											0	0	0	0.004482	0	8	80				
ACTR8	93973	broad.mit.edu	37	3	53902769	53902769	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:53902769C>G	uc003dhd.2	-	13	1911	c.1852G>C	c.(1852-1854)GAG>CAG	p.E618Q	ACTR8_uc003dhb.2_Missense_Mutation_p.E323Q|ACTR8_uc003dhc.2_Missense_Mutation_p.E507Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	618					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GCAGCCCGCTCTCGTAACATG	0.478		NaN											0	0	0	0.004482	0	9	44				
DNASE1L3	1776	broad.mit.edu	37	3	58183687	58183687	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:58183687C>A	uc003djo.1	-	6	662	c.565G>T	c.(565-567)GAC>TAC	p.D189Y	DNASE1L3_uc011bfd.1_Missense_Mutation_p.D159Y|DNASE1L3_uc003djp.1_Missense_Mutation_p.D189Y|DNASE1L3_uc003djq.1_Missense_Mutation_p.D189Y	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	189					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCATTGAAGTCACCCATGAAA	0.512		NaN											1	0	2.32078e-09	0.003163	2.4546e-09	14	30				
KCTD6	200845	broad.mit.edu	37	3	58486802	58486802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:58486802C>T	uc003dkj.3	+	3	274	c.157C>T	c.(157-159)CAA>TAA	p.Q53*	KCTD6_uc003dki.3_Nonsense_Mutation_p.Q53*|KCTD6_uc003dkk.3_Nonsense_Mutation_p.Q53*	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	53	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCGAGACCCTCAAGGCAATTA	0.453		NaN											0	0	0	0.005524	0	40	77				
NFKBIZ	64332	broad.mit.edu	37	3	101572646	101572646	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:101572646G>C	uc003dvp.2	+	5	1391	c.1276G>C	c.(1276-1278)GAA>CAA	p.E426Q	NFKBIZ_uc003dvo.2_Missense_Mutation_p.E326Q|NFKBIZ_uc010hpo.2_Missense_Mutation_p.E326Q|NFKBIZ_uc003dvq.2_Missense_Mutation_p.E304Q	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	426	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GGAGCAGGAAGAAAGCAAATT	0.403		NaN											0	0	0	0.013726	0	34	46				
PHLDB2	90102	broad.mit.edu	37	3	111603414	111603414	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:111603414C>G	uc010hqa.2	+	2	901	c.490C>G	c.(490-492)CTT>GTT	p.L164V	PHLDB2_uc003dyc.2_Missense_Mutation_p.L191V|PHLDB2_uc003dyd.2_Missense_Mutation_p.L164V|PHLDB2_uc003dyg.2_Missense_Mutation_p.L164V|PHLDB2_uc003dyh.2_Missense_Mutation_p.L164V|PHLDB2_uc003dye.3_Missense_Mutation_p.L164V|PHLDB2_uc003dyf.3_Missense_Mutation_p.L164V	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	164						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TGTCTACTCTCTTGGAGGGCT	0.542		NaN											0	0	0	0.014323	0	24	95				
PHLDB2	90102	broad.mit.edu	37	3	111603734	111603734	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:111603734C>G	uc010hqa.2	+	2	1221	c.810C>G	c.(808-810)CTC>CTG	p.L270L	PHLDB2_uc003dyc.2_Silent_p.L297L|PHLDB2_uc003dyd.2_Silent_p.L270L|PHLDB2_uc003dyg.2_Silent_p.L270L|PHLDB2_uc003dyh.2_Silent_p.L270L|PHLDB2_uc003dye.3_Silent_p.L270L|PHLDB2_uc003dyf.3_Silent_p.L270L	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	270						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TGACACCTCTCAGCTTGCCTC	0.478		NaN											0	0	0	0.001855	0	13	53				
GAP43	2596	broad.mit.edu	37	3	115395213	115395213	+	Silent	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:115395213T>C	uc003ebq.2	+	2	770	c.384T>C	c.(382-384)CCT>CCC	p.P128P	GAP43_uc003ebr.2_Silent_p.P164P	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	128					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)		CCCAGGCTCCTGCATCCTCAG	0.602		NaN											0	0	0	0.00278	0	21	35				
ALDH1L1	10840	broad.mit.edu	37	3	125828793	125828793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:125828793G>A	uc003eim.1	-	20	2531	c.2341C>T	c.(2341-2343)CGG>TGG	p.R781W	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.R680W|ALDH1L1_uc003ein.1_Missense_Mutation_p.R316W	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	781	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCACCTGGCCGAGGGACCTGA	0.597		NaN											0	0	0	0.010729	0	11	30				
TMCC1	23023	broad.mit.edu	37	3	129546893	129546893	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:129546893C>T	uc003emz.3	-	4	830	c.329G>A	c.(328-330)CGA>CAA	p.R110Q	TMCC1_uc010htg.2_5'UTR	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	110						integral to membrane				skin(1)	1						GGGTGGCACTCGAATCTGCTG	0.552		NaN											0	0	0	0.013726	0	31	67				
COL6A6	131873	broad.mit.edu	37	3	130290033	130290033	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:130290033G>A	uc010htl.2	+	6	2804	c.2773G>A	c.(2773-2775)GAT>AAT	p.D925N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	925	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGAATCCCATGATGCTGATAA	0.567		NaN											0	0	0	0.001855	0	13	65				
C3orf36	80111	broad.mit.edu	37	3	133647541	133647541	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:133647541G>C	uc003epz.1	-	1	1116	c.107C>G	c.(106-108)TCT>TGT	p.S36C		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	36										ovary(1)	1						TGAGGGGGCAGAGAGACACGT	0.587		NaN											0	0	0	0.010729	0	12	50				
ZBTB38	253461	broad.mit.edu	37	3	141163197	141163197	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:141163197G>T	uc003etw.2	+	8	2949	c.1967G>T	c.(1966-1968)GGA>GTA	p.G656V	ZBTB38_uc010hun.2_Missense_Mutation_p.G653V|ZBTB38_uc010huo.2_Missense_Mutation_p.G656V|ZBTB38_uc003ety.2_Missense_Mutation_p.G656V|ZBTB38_uc010hup.2_Missense_Mutation_p.G657V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	656					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ACCAAATGGGGAGAGGAGGCA	0.468		NaN											1	0	1.00905e-13	0.008871	1.08875e-13	20	119				
HPS3	84343	broad.mit.edu	37	3	148868438	148868438	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:148868438G>A	uc003ewu.1	+	6	1356	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K	HPS3_uc003ewt.1_Missense_Mutation_p.E406K|HPS3_uc011bnq.1_Missense_Mutation_p.E241K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	406						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTCGTGAGGAGGACCCGTA	0.512		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.008291	0	11	59				
TRIM59	286827	broad.mit.edu	37	3	160156793	160156793	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:160156793C>T	uc003fdm.2	-	3	374	c.179G>A	c.(178-180)AGA>AAA	p.R60K	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	60	RING-type.					integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGTAATACTTCTGCAATTAGG	0.358		NaN											0	0	0	0.008871	0	20	89				
ATP11B	23200	broad.mit.edu	37	3	182577088	182577088	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:182577088G>A	uc003flb.2	+	12	1398	c.1141G>A	c.(1141-1143)GAA>AAA	p.E381K		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	381	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTGTATCATGAAGAATCAGA	0.328		NaN											0	0	0	0.004007	0	16	22				
HTR3E	285242	broad.mit.edu	37	3	183824447	183824447	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:183824447C>G	uc010hxq.2	+	9	1803	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	HTR3E_uc003fml.3_Missense_Mutation_p.S431C|HTR3E_uc003fmm.2_Missense_Mutation_p.S461C|HTR3E_uc010hxr.2_Missense_Mutation_p.S472C|HTR3E_uc003fmn.2_Missense_Mutation_p.S446C	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	446	Helical; Name=4; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGCCTCCTCTATCATCACC	0.592		NaN											0	0	0	0.010818	0	32	83				
LPP	4026	broad.mit.edu	37	3	188327169	188327169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:188327169C>T	uc003frs.1	+	6	896	c.650C>T	c.(649-651)TCA>TTA	p.S217L	LPP_uc011bsg.1_Missense_Mutation_p.S217L|LPP_uc011bsi.1_Missense_Mutation_p.S217L|LPP_uc003frt.2_Missense_Mutation_p.S217L|LPP_uc011bsj.1_Missense_Mutation_p.S54L	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	217	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCACTTCTTCAAGGCCTACC	0.592		NaN	T	HMGA2|MLL|C12orf9	lipoma|leukemia								0	0	0	0.010729	0	12	91				
GP5	2814	broad.mit.edu	37	3	194117344	194117344	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr3:194117344C>T	uc003ftv.1	-	2	1699	c.1668G>A	c.(1666-1668)GAG>GAA	p.E556E		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	556	Cytoplasmic (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CAAGGGCTCTCTCTCTGATTA	0.413		NaN											0	0	0	0.006999	0	38	186				
CPLX1	10815	broad.mit.edu	37	4	780459	780459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:780459C>T	uc003gbi.2	-	4	426	c.235G>A	c.(235-237)GAG>AAG	p.E79K	CPLX1_uc003gbj.2_Missense_Mutation_p.E58K	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	79					glutamate secretion	cytosol					0				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756		NaN											0	0	0	0.001855	0	13	13				
TMEM175	84286	broad.mit.edu	37	4	947001	947001	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:947001C>A	uc003gbq.2	+	8	584	c.486C>A	c.(484-486)TTC>TTA	p.F162L	TMEM175_uc010ibl.1_Missense_Mutation_p.F162L|TMEM175_uc003gbp.1_Missense_Mutation_p.F80L|TMEM175_uc003gbr.2_Missense_Mutation_p.F80L|TMEM175_uc003gbu.2_Missense_Mutation_p.F80L|TMEM175_uc003gbs.2_Missense_Mutation_p.F45L|TMEM175_uc003gbt.2_Missense_Mutation_p.F45L|TMEM175_uc003gbv.2_Missense_Mutation_p.F45L|TMEM175_uc010ibm.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	162						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACGCATTCCACTTCCCGC	0.657		NaN											1	0	0.00909568	0.009096	0.00918149	4	25				
EVC	2121	broad.mit.edu	37	4	5749989	5749989	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:5749989G>T	uc003gil.1	+	8	1238	c.1054G>T	c.(1054-1056)GCA>TCA	p.A352S	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Missense_Mutation_p.Q472K	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	352					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAGAATGATTGCAGCCGAAGG	0.488		NaN											1	0	1.42536e-11	0.004656	1.52768e-11	25	11				
DRD5	1816	broad.mit.edu	37	4	9783854	9783854	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:9783854G>A	uc003gmb.3	+	1	597	c.201G>A	c.(199-201)CGG>CGA	p.R67R		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	67	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCATCGTGCGGAGCCGCCACC	0.647		NaN											0	0	0	0.008291	0	10	8				
DRD5	1816	broad.mit.edu	37	4	9783920	9783920	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:9783920C>T	uc003gmb.3	+	1	663	c.267C>T	c.(265-267)TTC>TTT	p.F89F		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	89	Helical; Name=2; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGACCTTTTCGTGGCGCTGC	0.632		NaN											0	0	0	0.008871	0	19	17				
LDB2	9079	broad.mit.edu	37	4	16590352	16590352	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:16590352C>G	uc003goz.2	-	4	828	c.512G>C	c.(511-513)AGA>ACA	p.R171T	LDB2_uc003gpa.2_Missense_Mutation_p.R171T|LDB2_uc003gpb.2_Missense_Mutation_p.R171T|LDB2_uc011bxh.1_Missense_Mutation_p.R171T|LDB2_uc010iee.2_Missense_Mutation_p.R171T|LDB2_uc003goy.2_Missense_Mutation_p.R47T|LDB2_uc011bxi.1_Missense_Mutation_p.R47T	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	171							LIM domain binding|transcription cofactor activity				0						TAGGATGCTTCTCGGGACTAA	0.393		NaN											0	0	0	0.001168	0	6	62				
ATP10D	57205	broad.mit.edu	37	4	47583998	47583998	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:47583998G>A	uc003gxk.1	+	21	3834	c.3670G>A	c.(3670-3672)GAC>AAC	p.D1224N	ATP10D_uc003gxl.1_Missense_Mutation_p.D472N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1224	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTCAGATACTGACATCTTTGC	0.448		NaN											0	0	0	0.004878	0	37	99				
UGT2B4	7363	broad.mit.edu	37	4	70359471	70359471	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:70359471G>C	uc003hek.3	-	2	857	c.810C>G	c.(808-810)CTC>CTG	p.L270L	UGT2B4_uc011cap.1_Silent_p.L134L|UGT2B4_uc003hel.3_Silent_p.L270L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	270					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						CATTTGGTAAGAGTGGGTGAG	0.433		NaN											0	0	0	0.006214	0	8	146				
ODAM	54959	broad.mit.edu	37	4	71063726	71063726	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:71063726C>G	uc003hfc.2	+	4	244	c.227C>G	c.(226-228)TCT>TGT	p.S76C		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	76	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						TCCCAGTTCTCTTTATCAGCT	0.478		NaN											0	0	0	0.00623	0	40	144				
NPFFR2	10886	broad.mit.edu	37	4	72994488	72994488	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:72994488G>T	uc003hgg.2	+	2	584	c.486G>T	c.(484-486)ATG>ATT	p.M162I	NPFFR2_uc010iig.1_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.M63I|NPFFR2_uc003hgh.2_Missense_Mutation_p.M60I	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	162	Helical; Name=1; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTTTGTGCATGATGGGAAATA	0.358		NaN											1	0	3.5997e-14	0.014323	3.89058e-14	22	136				
ALB	213	broad.mit.edu	37	4	74284010	74284010	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:74284010G>A	uc003hgs.3	+	12	1707	c.1634G>A	c.(1633-1635)AGA>AAA	p.R545K	ALB_uc003hgw.3_Missense_Mutation_p.R353K|ALB_uc011cbe.1_Missense_Mutation_p.R224K|ALB_uc003hgt.3_Missense_Mutation_p.R545K|ALB_uc010iii.2_Missense_Mutation_p.R430K|ALB_uc003hgu.3_Missense_Mutation_p.R395K|ALB_uc003hgv.3_Missense_Mutation_p.R224K|ALB_uc011cbf.1_Missense_Mutation_p.R435K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.R224K	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	545	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GAGAAGGAGAGACAAATCAAG	0.383		NaN											0	0	0	0.007413	0	20	39				
AGPAT9	84803	broad.mit.edu	37	4	84457852	84457852	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:84457852C>T	uc003how.2	+	2	295	c.77C>T	c.(76-78)TCG>TTG	p.S26L	AGPAT9_uc003hox.2_Missense_Mutation_p.S26L|AGPAT9_uc003hoy.2_Missense_Mutation_p.S26L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	26	Helical; (Potential).				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			skin(1)	1		Hepatocellular(203;0.114)				CTTTTACCTTCGGTCTTCGGA	0.582		NaN											0	0	0	0.001168	0	5	24				
HSD17B13	345275	broad.mit.edu	37	4	88238288	88238288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:88238288C>T	uc003hqo.2	-	3	469	c.406G>A	c.(406-408)GAG>AAG	p.E136K	HSD17B13_uc010ikk.2_Missense_Mutation_p.E100K	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	136						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTGGTAATCTCTTCATCCTTG	0.403		NaN											0	0	0	0.004289	0	39	57				
EIF4E	1977	broad.mit.edu	37	4	99802262	99802262	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:99802262G>C	uc003hue.2	-	7	2094	c.571C>G	c.(571-573)CCA>GCA	p.P191A	EIF4E_uc011cea.1_Missense_Mutation_p.P211A|EIF4E_uc011ceb.1_Missense_Mutation_p.P222A	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	191					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ACTATCTTTGGAGGAAGTCCT	0.363		NaN											0	0	0	0.008291	0	9	37				
ANK2	287	broad.mit.edu	37	4	114276668	114276668	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:114276668G>A	uc003ibe.3	+	38	6994	c.6894G>A	c.(6892-6894)GAG>GAA	p.E2298E	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.E2313E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2265					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGTCACTGAGGACTCAGAGA	0.488		NaN											0	0	0	0.008291	0	11	30				
NUDT6	11162	broad.mit.edu	37	4	123843692	123843692	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:123843692C>G	uc003iew.2	-	1	68	c.36G>C	c.(34-36)GCG>GCC	p.A12A	SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	12						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						GGGCAAGCATCGCGCGCCAGC	0.692		NaN											0	0	0	0.001984	0	7	20				
TIGD4	201798	broad.mit.edu	37	4	153691640	153691640	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691640C>A	uc003imy.2	-	2	1299	c.517G>T	c.(517-519)GAT>TAT	p.D173Y		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	173					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					GGATGATAATCATTTAAATAA	0.353		NaN											1	0	8.88839e-20	0.010818	9.72121e-20	34	72				
TIGD4	201798	broad.mit.edu	37	4	153691892	153691892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691892C>A	uc003imy.2	-	2	1047	c.265G>T	c.(265-267)GAG>TAG	p.E89*		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	89	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					ATTAATGCCTCTTCCAGATCT	0.363		NaN											1	0	4.37618e-36	0.01441	4.80258e-36	53	122				
TIGD4	201798	broad.mit.edu	37	4	153691920	153691920	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:153691920C>T	uc003imy.2	-	2	1019	c.237G>A	c.(235-237)CTG>CTA	p.L79L		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	79	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					AAGCAGTTCTCAGTCTTTTTC	0.338		NaN											0	0	0	0.007835	0	44	102				
LRAT	9227	broad.mit.edu	37	4	155665889	155665889	+	Silent	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:155665889C>G	uc003iom.1	+	1	738	c.411C>G	c.(409-411)CTC>CTG	p.L137L	uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.L137L	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	137	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AGGCACTGCTCAACGAGGAGG	0.577		NaN											0	0	0	0.012319	0	21	32				
ODZ3	55714	broad.mit.edu	37	4	183267846	183267846	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:183267846C>A	uc003ivd.1	+	2	312	c.275C>A	c.(274-276)GCA>GAA	p.A92E	ODZ3_uc010irv.1_Missense_Mutation_p.A92E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	92	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGTGAACCAGCAACTCGAAGA	0.428		NaN											1	0	5.03518e-11	0.007413	5.38765e-11	17	17				
PDLIM3	27295	broad.mit.edu	37	4	186423477	186423477	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:186423477C>T	uc003ixw.3	-	8	1190	c.1066G>A	c.(1066-1068)GAC>AAC	p.D356N	PDLIM3_uc003ixx.3_Missense_Mutation_p.D308N|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	356						sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTGACCGTGTCATAGCCCTCT	0.428		NaN											0	0	0	0.011902	0	45	86				
ADAMTS16	170690	broad.mit.edu	37	5	5237174	5237174	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:5237174G>A	uc003jdl.2	+	14	2254	c.2116G>A	c.(2116-2118)GAG>AAG	p.E706K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E706K|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TCCATGCTCGGAGGATAGCCG	0.284		NaN											0	0	0	0.003954	0	23	93				
PAPD7	11044	broad.mit.edu	37	5	6750570	6750570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:6750570C>T	uc003jdx.1	+	10	1193	c.1064C>T	c.(1063-1065)TCA>TTA	p.S355L	PAPD7_uc011cmn.1_Missense_Mutation_p.S346L|PAPD7_uc010itl.1_Missense_Mutation_p.S175L	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	355	Ser-rich.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CTCCTGTCTTCAGGCTCCTCG	0.572		NaN											0	0	0	0.008291	0	11	54				
DNAH5	1767	broad.mit.edu	37	5	13919382	13919382	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:13919382C>G	uc003jfd.2	-	7	920	c.878G>C	c.(877-879)AGA>ACA	p.R293T	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTTGGAGAGTCTTTTTTTCCA	0.517		NaN							Kartagener_syndrome				0	0	0	0.009535	0	31	202				
CARD6	84674	broad.mit.edu	37	5	40852632	40852632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:40852632C>T	uc003jmg.2	+	3	1273	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	400					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						AAACATGTATCAGTGCCAGTT	0.453		NaN											0	0	0	0.014323	0	23	47				
IL31RA	133396	broad.mit.edu	37	5	55178994	55178994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:55178994C>T	uc003jql.2	+	5	642	c.577C>T	c.(577-579)CGA>TGA	p.R193*	IL31RA_uc003jqk.2_Nonsense_Mutation_p.R193*|IL31RA_uc011cqj.1_Nonsense_Mutation_p.R51*|IL31RA_uc003jqm.2_Nonsense_Mutation_p.R161*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R193*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R161*|IL31RA_uc003jqo.2_Nonsense_Mutation_p.R51*	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	161	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATACACACTTCGATTCAGGAC	0.383		NaN											0	0	0	0.001855	0	14	31				
MAST4	375449	broad.mit.edu	37	5	66386048	66386048	+	Silent	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:66386048A>G	uc003jut.1	+	5	323	c.255A>G	c.(253-255)TCA>TCG	p.S85S	MAST4_uc003jus.2_Silent_p.S85S|MAST4_uc003juu.1_Silent_p.S92S|MAST4_uc011cra.1_Silent_p.S65S|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Silent_p.S80S|MAST4_uc003juw.2_Silent_p.S80S	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	274						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCATTTTTCATTTGCACGGA	0.328		NaN											0	0	0	0.010729	0	9	7				
TNPO1	3842	broad.mit.edu	37	5	72192888	72192888	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:72192888G>C	uc003kck.3	+	20	2395	c.2248G>C	c.(2248-2250)GAG>CAG	p.E750Q	TNPO1_uc011csj.1_Missense_Mutation_p.E700Q|TNPO1_uc003kch.2_Missense_Mutation_p.E742Q|TNPO1_uc003kci.3_Missense_Mutation_p.E742Q|TNPO1_uc003kcg.3_Missense_Mutation_p.E742Q	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	750					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCTAGGTATAGAGATGCAGCC	0.343		NaN											0	0	0	0.00499	0	16	31				
CAST	831	broad.mit.edu	37	5	96086315	96086315	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:96086315C>T	uc003klz.1	+	18	1366	c.1204C>T	c.(1204-1206)CCT>TCT	p.P402S	CAST_uc003klt.2_Missense_Mutation_p.P389S|CAST_uc003klu.2_Missense_Mutation_p.P485S|CAST_uc003klv.2_Missense_Mutation_p.P463S|CAST_uc003klw.2_Missense_Mutation_p.P466S|CAST_uc003klx.2_Missense_Mutation_p.P444S|CAST_uc003kly.2_Missense_Mutation_p.P450S|CAST_uc011cuo.1_Missense_Mutation_p.P448S|CAST_uc011cuq.1_Missense_Mutation_p.P250S|CAST_uc011cur.1_Missense_Mutation_p.P388S|CAST_uc011cus.1_Missense_Mutation_p.P389S|CAST_uc003kma.1_Missense_Mutation_p.P361S|CAST_uc011cut.1_Missense_Mutation_p.P330S|CAST_uc003kmb.2_Missense_Mutation_p.P348S|CAST_uc003kmc.2_Missense_Mutation_p.P402S|CAST_uc003kmd.2_Missense_Mutation_p.P380S|CAST_uc003kme.2_Missense_Mutation_p.P361S|CAST_uc003kmf.2_Missense_Mutation_p.P367S|CAST_uc003kmh.2_Missense_Mutation_p.P117S|CAST_uc010jbj.2_Missense_Mutation_p.P117S|CAST_uc010jbk.2_Missense_Mutation_p.P117S|CAST_uc010jbl.1_Missense_Mutation_p.P125S|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.P125S	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	402							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTCCAGCTCCTGTGTCGGA	0.488		NaN											0	0	0	0.008291	0	10	29				
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:112103071G>T	uc010jby.2	+	4	786	c.406G>T	c.(406-408)GAA>TAA	p.E136*	APC_uc011cvt.1_Nonsense_Mutation_p.E146*|APC_uc003kpz.3_Nonsense_Mutation_p.E136*|APC_uc003kpy.3_Nonsense_Mutation_p.E136*|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.|Potential.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			1	0	2.75727e-19	0.004878	3.01049e-19	35	16		Valid		
TSSK1B	83942	broad.mit.edu	37	5	112770257	112770257	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:112770257C>T	uc003kqm.2	-	1	472	c.280G>A	c.(280-282)GTC>ATC	p.V94I	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	94	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCGCCCTGGACCGCGAGCTCC	0.512		NaN											0	0	0	0.010729	0	11	24				
CEP120	153241	broad.mit.edu	37	5	122717855	122717855	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:122717855C>T	uc003ktk.2	-	15	2135	c.2053G>A	c.(2053-2055)GAG>AAG	p.E685K	CEP120_uc011cwq.1_Missense_Mutation_p.E494K|CEP120_uc010jcz.1_Missense_Mutation_p.E659K	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	685	Potential.					centrosome				ovary(1)	1						TTCCATTCCTCTGCAAGAGCC	0.353		NaN											0	0	0	0.001168	0	5	65				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917811	139917811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:139917811C>T	uc003lfs.1	+	32	7493	c.7369C>T	c.(7369-7371)CAG>TAG	p.Q2457*	ANKHD1_uc003lfr.2_Nonsense_Mutation_p.Q2457*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.Q1213*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.Q1112*|ANKHD1_uc010jfl.2_Nonsense_Mutation_p.Q833*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.Q611*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2457						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTTCATCAGCCTATGGC	0.408		NaN											0	0	0	0.009718	0	39	120				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139918544	139918544	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:139918544C>G	uc003lfs.1	+	33	7569	c.7445C>G	c.(7444-7446)TCT>TGT	p.S2482C	ANKHD1_uc003lfr.2_Missense_Mutation_p.S2482C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1238C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S1137C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S858C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S627C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2482						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATACCCTCTCATCCTCAG	0.348		NaN											0	0	0	0.004007	0	14	29				
PCDHA1	56147	broad.mit.edu	37	5	140166145	140166145	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:140166145C>T	uc003lhb.2	+	1	270	c.270C>T	c.(268-270)ATC>ATT	p.I90I	PCDHA1_uc003lha.2_Silent_p.I90I|PCDHA1_uc003lgz.2_Silent_p.I90I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	90	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGATCGCGAGG	0.577		NaN											0	0	0	0.001168	0	6	104				
PCDHA8	56140	broad.mit.edu	37	5	140222414	140222414	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:140222414C>T	uc003lhs.2	+	1	1508	c.1508C>T	c.(1507-1509)TCG>TTG	p.S503L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S503L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667		NaN											0	0	0	0.009718	0	39	30				
ADRB2	154	broad.mit.edu	37	5	148207582	148207582	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:148207582C>A	uc003lpr.1	+	1	1427	c.1188C>A	c.(1186-1188)AGC>AGA	p.S396R	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	396	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTGTGCCTAGCGATAACATTG	0.453		NaN											1	0	6.44725e-10	0.014323	6.83026e-10	22	21				
GABRP	2568	broad.mit.edu	37	5	170239053	170239053	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:170239053G>A	uc003mau.2	+	10	1312	c.1114G>A	c.(1114-1116)GAA>AAA	p.E372K	GABRP_uc011dev.1_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	372	Cytoplasmic (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCCAGCATTGAAATTTCCAG	0.413		NaN											0	0	0	0.008871	0	20	72				
UIMC1	51720	broad.mit.edu	37	5	176409576	176409576	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:176409576G>A	uc011dfp.1	-	2	208	c.41C>T	c.(40-42)TCT>TTT	p.S14F	UIMC1_uc003mfc.1_5'UTR|UIMC1_uc003mfd.1_5'UTR|UIMC1_uc003mfg.1_Missense_Mutation_p.S14F|UIMC1_uc003mfh.1_Missense_Mutation_p.S14F|UIMC1_uc010jkj.1_Missense_Mutation_p.S14F|UIMC1_uc011dfq.1_Missense_Mutation_p.S14F	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	14	Necessary for transcriptional repression.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTCCGAGATTCGGAGAC	0.373		NaN											0	0	0	0.008291	0	11	67				
BTNL8	79908	broad.mit.edu	37	5	180326337	180326337	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:180326337G>C	uc003mmp.2	+	1	261	c.27G>C	c.(25-27)CTG>CTC	p.L9L	BTNL8_uc003mmq.2_Silent_p.L9L|BTNL8_uc011dhg.1_5'UTR|BTNL8_uc010jll.2_Silent_p.L9L|BTNL8_uc010jlm.2_Silent_p.L9L	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	9						integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTGGTTCTGAGTCTCCTCA	0.453		NaN											0	0	0	0.00874	0	40	180				
TFAP2A	7020	broad.mit.edu	37	6	10404933	10404933	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:10404933G>A	uc003myr.2	-	4	824	c.572C>T	c.(571-573)TCC>TTC	p.S191F	TFAP2A_uc003myq.2_Missense_Mutation_p.S185F|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.S191F|TFAP2A_uc003myt.2_Missense_Mutation_p.S187F|TFAP2A_uc003myu.1_Missense_Mutation_p.S191F	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	191					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGGATGGCGGAGACGGCATT	0.627		NaN											0	0	0	0.003271	0	34	43				
JARID2	3720	broad.mit.edu	37	6	15468887	15468887	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:15468887C>T	uc003nbj.2	+	5	852	c.608C>T	c.(607-609)TCA>TTA	p.S203L	JARID2_uc011diu.1_Missense_Mutation_p.S67L|JARID2_uc011div.1_Missense_Mutation_p.S31L|JARID2_uc011diw.1_Missense_Mutation_p.S165L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	203					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACAATGCTTCATCTTCATGC	0.468		NaN											0	0	0	0.00499	0	16	51				
ALDH5A1	7915	broad.mit.edu	37	6	24528378	24528378	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:24528378C>T	uc003neg.2	+	8	1355	c.1327C>T	c.(1327-1329)CTG>TTG	p.L443L	ALDH5A1_uc003nef.2_Silent_p.L456L	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	443					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTTCGGGCCTCTGGCACCAGT	0.488		NaN											0	0	0	0.014323	0	22	29				
HIST1H2BE	8344	broad.mit.edu	37	6	26184092	26184092	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:26184092G>A	uc003ngt.2	+	1	69	c.69G>A	c.(67-69)CAG>CAA	p.Q23Q		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	23					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CCAAGGCGCAGAAGAAGGACG	0.577		NaN											0	0	0	0.01441	0	59	114				
ZNF193	7746	broad.mit.edu	37	6	28200360	28200360	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:28200360G>A	uc003nkq.1	+	4	704	c.589G>A	c.(589-591)GAC>AAC	p.D197N	ZNF193_uc003nkr.1_Missense_Mutation_p.D197N|ZNF193_uc010jqz.1_Missense_Mutation_p.D248N	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGACTGAGGACAGAGAGTT	0.423		NaN											0	0	0	0.001984	0	6	77				
TRIM27	5987	broad.mit.edu	37	6	28872256	28872256	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:28872256C>T	uc003nlr.2	-	8	1492	c.1133G>A	c.(1132-1134)GGA>GAA	p.G378E	TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	378	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						GGCTTTATCTCCCACCTCTAC	0.532		NaN	T	RET	papillary thyroid								0	0	0	0.003163	0	16	75				
ZBTB22	9278	broad.mit.edu	37	6	33284067	33284067	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:33284067G>A	uc003oeb.2	-	2	779	c.627C>T	c.(625-627)TTC>TTT	p.F209F	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.F209F	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCCTGGGGCTGAAGTAGTTGC	0.617		NaN											0	0	0	0.010504	0	22	35				
RNF8	9025	broad.mit.edu	37	6	37336788	37336788	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:37336788C>T	uc003onq.3	+	3	962	c.769C>T	c.(769-771)CTG>TTG	p.L257L	RNF8_uc003onr.3_Silent_p.L257L|RNF8_uc011dtx.1_Silent_p.L189L	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	257					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						GTCCAGGATTCTGAGGCTCAA	0.433		NaN											0	0	0	0.010504	0	20	90				
TRERF1	55809	broad.mit.edu	37	6	42196160	42196160	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:42196160C>T	uc003osd.2	-	18	4089	c.3526G>A	c.(3526-3528)GAG>AAG	p.E1176K	TRERF1_uc011duq.1_Missense_Mutation_p.E1093K|TRERF1_uc003osb.2_Missense_Mutation_p.E944K|TRERF1_uc003osc.2_Missense_Mutation_p.E932K|TRERF1_uc003ose.2_Missense_Mutation_p.E1196K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1176	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTTCAGCCTCTTCCATGACA	0.532		NaN											0	0	0	0.010729	0	12	148				
XPO5	57510	broad.mit.edu	37	6	43521164	43521164	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43521164C>T	uc003ovp.2	-	14	1729	c.1518G>A	c.(1516-1518)ATG>ATA	p.M506I		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	506					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAAAAAGAGTCATGGCTTCCC	0.368		NaN											0	0	0	0.004672	0	3	12				
XPO5	57510	broad.mit.edu	37	6	43528732	43528732	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43528732C>G	uc003ovp.2	-	10	1235	c.1024G>C	c.(1024-1026)GAT>CAT	p.D342H		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	342					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTTCTACATCAGAATCTGCA	0.368		NaN											0	0	0	0.00245	0	14	67				
POLH	5429	broad.mit.edu	37	6	43555015	43555015	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43555015G>A	uc003ovq.3	+	4	583	c.279G>A	c.(277-279)CGG>CGA	p.R93R	POLH_uc010jyu.2_Intron|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_5'UTR	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	93	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTAGGTACCGGGAAGCCAGTG	0.448		NaN						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				0	0	0	0.001855	0	12	158				
POLH	5429	broad.mit.edu	37	6	43555211	43555211	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:43555211G>C	uc003ovq.3	+	4	779	c.475G>C	c.(475-477)GAG>CAG	p.E159Q	POLH_uc010jyu.2_Intron|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.E60Q	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	159	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AACGGCAGAAGAGACTGTTCA	0.473		NaN						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				0	0	0	0.000602	0	5	61				
SLC25A27	9481	broad.mit.edu	37	6	46644175	46644175	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:46644175G>A	uc003oyh.2	+	9	1207	c.956G>A	c.(955-957)GGA>GAA	p.G319E	SLC25A27_uc011dwb.1_Intron|SLC25A27_uc003oyg.2_Intron|SLC25A27_uc011dwc.1_Missense_Mutation_p.G233E|SLC25A27_uc003oyi.2_Missense_Mutation_p.G249E	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	319					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			GAGATGAGTGGAGTCAGTCCA	0.368		NaN											0	0	0	0.00278	0	20	87				
CD2AP	23607	broad.mit.edu	37	6	47563717	47563717	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:47563717C>G	uc003oyw.2	+	12	1685	c.1229C>G	c.(1228-1230)CCA>CGA	p.P410R		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	410	SH3-binding (Potential).|Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACAGTGTACCCAAAGCGACCT	0.423		NaN											0	0	0	0.009535	0	29	176				
PHF3	23469	broad.mit.edu	37	6	64395311	64395311	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:64395311C>A	uc003pep.1	+	3	1714	c.1688C>A	c.(1687-1689)TCT>TAT	p.S563Y	PHF3_uc010kaf.1_Missense_Mutation_p.S563Y|PHF3_uc003pem.2_Missense_Mutation_p.S516Y|PHF3_uc010kag.1_Missense_Mutation_p.S475Y|PHF3_uc010kah.1_Missense_Mutation_p.S377Y|PHF3_uc003pen.2_Missense_Mutation_p.S475Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.S563Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	563					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTGCAATTCTGGGGTTAAA	0.343		NaN											1	0	8.24728e-16	0.004656	8.95898e-16	26	39				
FAM46A	55603	broad.mit.edu	37	6	82459924	82459924	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:82459924C>G	uc003pjg.2	-	3	1135	c.817G>C	c.(817-819)GAT>CAT	p.D273H	FAM46A_uc003pjf.2_Missense_Mutation_p.D292H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	273											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGTGATCAAAGGCTTCC	0.493		NaN											0	0	0	0.003163	0	15	68				
MDN1	23195	broad.mit.edu	37	6	90420473	90420473	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:90420473G>C	uc003pnn.1	-	50	7808	c.7692C>G	c.(7690-7692)CTC>CTG	p.L2564L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2564					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAAATTCCTGAGAGATGCAG	0.348		NaN											0	0	0	0.003163	0	15	33				
CASP8AP2	9994	broad.mit.edu	37	6	90577477	90577477	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:90577477G>C	uc003pnr.2	+	8	4664	c.4468G>C	c.(4468-4470)GAG>CAG	p.E1490Q	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1490Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1490Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1490					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGATGCATCTGAGCAAGATAT	0.408		NaN											0	0	0	0.004289	0	34	52				
BVES	11149	broad.mit.edu	37	6	105577271	105577271	+	Silent	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:105577271A>G	uc003pqw.2	-	3	491	c.334T>C	c.(334-336)TTA>CTA	p.L112L	BVES_uc003pqx.2_Silent_p.L112L|BVES_uc003pqy.2_Silent_p.L112L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	112	Helical; (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCTTGTATAAAAGATACGAC	0.348		NaN											0	0	0	0.008871	0	21	45				
GJA1	2697	broad.mit.edu	37	6	121768780	121768780	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:121768780C>A	uc003pyr.2	+	2	1037	c.787C>A	c.(787-789)CAA>AAA	p.Q263K	GJA1_uc011ebo.1_Missense_Mutation_p.Q164K|GJA1_uc011ebp.1_Missense_Mutation_p.Q51K	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	263	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGTGGGTCTCAAAAATATGC	0.517		NaN											1	0	4.96729e-08	0.008871	5.19381e-08	21	87				
PTPRK	5796	broad.mit.edu	37	6	128411102	128411102	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:128411102C>T	uc003qbk.2	-	8	1565	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	PTPRK_uc003qbj.2_Missense_Mutation_p.E400K|PTPRK_uc010kfc.2_Missense_Mutation_p.E400K|PTPRK_uc011ebu.1_Missense_Mutation_p.E400K|PTPRK_uc003qbl.1_Missense_Mutation_p.E270K|PTPRK_uc011ebv.1_Missense_Mutation_p.E400K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	400	Extracellular (Potential).|Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCCTGTATTTCAGCAATCTTT	0.383		NaN											0	0	0	0.00623	0	37	94				
L3MBTL3	84456	broad.mit.edu	37	6	130392177	130392177	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:130392177G>C	uc003qbt.2	+	13	1319	c.1149G>C	c.(1147-1149)AAG>AAC	p.K383N	L3MBTL3_uc003qbu.2_Missense_Mutation_p.K358N	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	383	MBT 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TAGACAAAAAGAATCCCTCAT	0.423		NaN											0	0	0	0.01441	0	59	289				
BCLAF1	9774	broad.mit.edu	37	6	136582453	136582453	+	Missense_Mutation	SNP	C	C	T	rs141900019		TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:136582453C>T	uc003qgx.1	-	12	2960	c.2707G>A	c.(2707-2709)GAG>AAG	p.E903K	BCLAF1_uc011edb.1_Missense_Mutation_p.E182K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E730K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E852K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E901K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	903					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCATGGTCTCTTCTTCATCT	0.373		NaN											0	0	0	0.004007	0	15	291				
BCLAF1	9774	broad.mit.edu	37	6	136589379	136589379	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:136589379C>T	uc003qgx.1	-	10	2571	c.2318G>A	c.(2317-2319)AGA>AAA	p.R773K	BCLAF1_uc011edb.1_Missense_Mutation_p.R101K|BCLAF1_uc003qgw.1_Missense_Mutation_p.R600K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R771K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R771K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	773					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTTCTTCTCTTTCCTTCTT	0.383		NaN											0	0	0	0.007413	0	19	203				
KIAA1244	57221	broad.mit.edu	37	6	138619775	138619775	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:138619775G>A	uc003qhu.2	+	22	3681	c.3681G>A	c.(3679-3681)CAG>CAA	p.Q1227Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1227					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATGTGTCTCAGAAGGCTGTTT	0.473		NaN											0	0	0	0.007291	0	28	25				
SHPRH	257218	broad.mit.edu	37	6	146242491	146242491	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:146242491C>T	uc003qlf.2	-	21	4219	c.3820G>A	c.(3820-3822)GAA>AAA	p.E1274K	SHPRH_uc003qld.2_Missense_Mutation_p.E1278K|SHPRH_uc003qle.2_Missense_Mutation_p.E1278K|SHPRH_uc003qlg.1_Missense_Mutation_p.E830K|SHPRH_uc003qlh.2_Missense_Mutation_p.E199K|SHPRH_uc003qli.1_Missense_Mutation_p.E199K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1274					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCATCTTCTATCATCTCC	0.433		NaN											0	0	0	0.009096	0	4	25				
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:158735144G>A	uc003qrf.2	+	1	1453	c.96G>A	c.(94-96)GAG>GAA	p.E32E	TULP4_uc011efo.1_Silent_p.E32E|TULP4_uc003qrg.2_Silent_p.E32E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	32					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572		NaN											0	0	0	0.001855	0	14	27				
C6orf70	55780	broad.mit.edu	37	6	170156863	170156863	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:170156863C>T	uc003qxg.1	+	5	499	c.466C>T	c.(466-468)CTT>TTT	p.L156F	C6orf70_uc011ehb.1_Missense_Mutation_p.L30F|C6orf70_uc003qxh.1_Missense_Mutation_p.L156F|C6orf70_uc010kky.1_Missense_Mutation_p.L30F	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	156						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AAGAGATCTGCTTTCATCTGA	0.308		NaN											0	0	0	0.003755	0	30	87				
CHST12	55501	broad.mit.edu	37	7	2473142	2473142	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:2473142G>A	uc003smc.2	+	2	1003	c.868G>A	c.(868-870)GAG>AAG	p.E290K	CHST12_uc003smd.2_Missense_Mutation_p.E290K	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	290	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTCGGCGCGCGAGGCCTTCCG	0.652		NaN											0	0	0	0.010729	0	11	99				
WIPF3	644150	broad.mit.edu	37	7	29915522	29915522	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:29915522G>A	uc003taj.1	+	2	167	c.167G>A	c.(166-168)GGA>GAA	p.G56E		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	56										ovary(1)	1						ATCCAGCAAGGAACTCGCCTG	0.582		NaN											0	0	0	0.006214	0	9	58				
CCDC129	223075	broad.mit.edu	37	7	31682680	31682680	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:31682680C>G	uc003tcj.1	+	11	2689	c.1696C>G	c.(1696-1698)CTG>GTG	p.L566V	CCDC129_uc011kad.1_Missense_Mutation_p.L576V|CCDC129_uc003tci.1_Missense_Mutation_p.L417V|CCDC129_uc011kae.1_Missense_Mutation_p.L592V|CCDC129_uc003tck.1_Missense_Mutation_p.L474V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	566											0						TGATCATCCTCTGGGGTTTAT	0.517		NaN											0	0	0	0.010729	0	12	223				
NT5C3	51251	broad.mit.edu	37	7	33063689	33063689	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:33063689C>G	uc003tdk.2	-	3	361	c.284G>C	c.(283-285)AGA>ACA	p.R95T	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.R56T|NT5C3_uc003tdj.2_Missense_Mutation_p.R56T	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	95				R -> K (in Ref. 11; AA sequence).	nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ATATGAAAATCTACTGAGTGT	0.338		NaN											0	0	0	0.001168	0	5	19				
ABCA13	154664	broad.mit.edu	37	7	48313605	48313605	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:48313605C>G	uc003toq.2	+	17	4367	c.4342C>G	c.(4342-4344)CTT>GTT	p.L1448V	ABCA13_uc010kyr.2_Missense_Mutation_p.L951V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1448					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAAAAACCTCTTTGTTCATC	0.264		NaN											0	0	0	0.010729	0	10	55				
ZNF479	90827	broad.mit.edu	37	7	57187752	57187752	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:57187752C>T	uc010kzo.2	-	5	1641	c.1370G>A	c.(1369-1371)AGA>AAA	p.R457K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	457	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433		NaN											0	0	0	0.00308	0	8	133				
ZNF479	90827	broad.mit.edu	37	7	57188486	57188487	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:57188486_57188487GG>AA	uc010kzo.2	-	5	906_907	c.635_636CC>TT	c.(634-636)TCC>TTT	p.S212F		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	212	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCATTTGTAGGACTTCTCCCT	0.332		NaN											0	0	0	0.004672	0	11	19				
CACNA2D1	781	broad.mit.edu	37	7	82072690	82072690	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:82072690G>A	uc003uhr.1	-	1	342	c.86C>T	c.(85-87)TCG>TTG	p.S29L		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	29	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CGTGACGGCCGAAGGGAACGG	0.488		NaN											0	0	0	0.001984	0	7	21				
ABCB1	5243	broad.mit.edu	37	7	87165842	87165842	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:87165842C>T	uc003uiz.1	-	21	2831	c.2413G>A	c.(2413-2415)GAT>AAT	p.D805N	ABCB1_uc011khc.1_Missense_Mutation_p.D741N	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	805	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTAGGGTCATCAAACCAACTC	0.343		NaN											0	0	0	0.004482	0	6	56				
TMEM130	222865	broad.mit.edu	37	7	98446226	98446226	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:98446226G>C	uc003upo.2	-	7	1288	c.1099C>G	c.(1099-1101)CAG>GAG	p.Q367E	TMEM130_uc011kiq.1_Missense_Mutation_p.Q348E|TMEM130_uc011kir.1_Missense_Mutation_p.Q367E|TMEM130_uc003upn.2_Missense_Mutation_p.Q265E	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	367	Cytoplasmic (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTTTTGCTGAGTGGCATTC	0.552		NaN											0	0	0	0.008291	0	11	96				
TRRAP	8295	broad.mit.edu	37	7	98581089	98581089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:98581089C>T	uc003upp.2	+	59	9217	c.9008C>T	c.(9007-9009)CCG>CTG	p.P3003L	TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Intron	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3003	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			cagggtaaaccgacctggtcc	0.259		NaN											0	0	0	0.012319	0	22	20				
CYP3A5	1577	broad.mit.edu	37	7	99247765	99247765	+	Silent	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:99247765G>C	uc003urq.2	-	12	1431	c.1344C>G	c.(1342-1344)CTC>CTG	p.L448L	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.L268L|CYP3A5_uc003urr.2_Silent_p.L335L|CYP3A5_uc011kiy.1_Silent_p.L438L|CYP3A5_uc003urs.2_Silent_p.L96L|CYP3A5_uc010lgg.2_Silent_p.L54L	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	448					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	TCATGTTCATGAGAGCAAACC	0.398		NaN											0	0	0	0.004482	0	9	170				
ZAN	7455	broad.mit.edu	37	7	100395059	100395059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:100395059G>C	uc003uwj.2	+	47	8503	c.8338G>C	c.(8338-8340)GAG>CAG	p.E2780Q	ZAN_uc003uwk.2_Missense_Mutation_p.E2689Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E729Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2780	VWFC 5.|Cytoplasmic (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGTGACCAGAGAGTGCATTTA	0.602		NaN											0	0	0	0.005443	0	24	39				
VGF	7425	broad.mit.edu	37	7	100806828	100806828	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:100806828C>T	uc003uxx.3	-	2	1515	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	433	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctgtcccctcggcctccttc	0.493		NaN											0	0	0	0.004672	0	3	15				
LRWD1	222229	broad.mit.edu	37	7	102106340	102106340	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:102106340G>A	uc003uzn.2	+	2	295	c.157G>A	c.(157-159)GAC>AAC	p.D53N	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	53	LRR 2.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						GCAGGAGCTTGACCTGTCTAA	0.622		NaN											0	0	0	0.00333	0	24	42				
RELN	5649	broad.mit.edu	37	7	103207108	103207108	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:103207108C>T	uc003vca.2	-	32	4847	c.4687G>A	c.(4687-4689)GAC>AAC	p.D1563N	RELN_uc010liz.2_Missense_Mutation_p.D1563N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1563					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTGGCAGGTCAATGGAAATG	0.478		NaN											0	0	0	0.010818	0	33	73				
COG5	10466	broad.mit.edu	37	7	106924162	106924162	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:106924162C>G	uc003ved.2	-	13	1947	c.1422G>C	c.(1420-1422)TTG>TTC	p.L474F	COG5_uc003vec.2_Missense_Mutation_p.L474F|COG5_uc003vee.2_Missense_Mutation_p.L474F	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	474					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GTGAGTCTTTCAAAGCCTTTT	0.368		NaN											0	0	0	0.012319	0	20	104				
PPP1R3A	5506	broad.mit.edu	37	7	113518227	113518227	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:113518227C>T	uc010ljy.1	-	4	2951	c.2920G>A	c.(2920-2922)GAA>AAA	p.E974K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	974					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GAAACTTCTTCAGGTTTAGAC	0.378		NaN											0	0	0	0.009718	0	45	76				
TFEC	22797	broad.mit.edu	37	7	115624399	115624399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:115624399G>C	uc003vhj.1	-	2	281	c.97C>G	c.(97-99)CTG>GTG	p.L33V	TFEC_uc003vhk.1_Missense_Mutation_p.L33V|TFEC_uc003vhl.3_Missense_Mutation_p.L33V|TFEC_uc011kmw.1_Missense_Mutation_p.L123V	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	33	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			TCACTGTCCAGAGTTGTGTGT	0.468		NaN											0	0	0	0.009535	0	32	148				
MET	4233	broad.mit.edu	37	7	116380132	116380132	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:116380132G>A	uc003vij.2	+	4	1708	c.1521G>A	c.(1519-1521)GGG>GGA	p.G507G	MET_uc010lkh.2_Silent_p.G507G|MET_uc011knc.1_Silent_p.G507G|MET_uc011knd.1_Silent_p.G507G|MET_uc011kne.1_Silent_p.G507G|MET_uc011knf.1_Silent_p.G507G|MET_uc011kng.1_Silent_p.G507G|MET_uc011knh.1_Silent_p.G507G|MET_uc011kni.1_Silent_p.G507G|MET_uc011knj.1_Silent_p.G77G|MET_uc011kna.1_Silent_p.G507G|MET_uc011knb.1_Silent_p.G507G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	507	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTATCACTGGGAAGAAGGTAA	0.438		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.001984	0	7	135				
GRM8	2918	broad.mit.edu	37	7	126542614	126542614	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:126542614G>A	uc003vlr.2	-	5	1449	c.1138C>T	c.(1138-1140)CAT>TAT	p.H380Y	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.H380Y|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.H101Y	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	380	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCTTTATATGACTGTTCCTT	0.353		NaN								HNSCC(24;0.065)			0	0	0	0.00308	0	6	64				
TNPO3	23534	broad.mit.edu	37	7	128610354	128610354	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:128610354C>T	uc003vol.1	-	20	2820	c.2446G>A	c.(2446-2448)GAA>AAA	p.E816K	TNPO3_uc010llx.1_Missense_Mutation_p.E227K|TNPO3_uc003vom.1_Missense_Mutation_p.E750K|TNPO3_uc010lly.1_Missense_Mutation_p.E850K|TNPO3_uc010llz.1_Missense_Mutation_p.E752K	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	816					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TTCCGTAATTCAAAGTCTTCT	0.458		NaN											0	0	0	0.013726	0	34	183				
CLEC5A	23601	broad.mit.edu	37	7	141645174	141645174	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:141645174C>T	uc003vwv.1	-	3	303	c.106G>A	c.(106-108)GAT>AAT	p.D36N	CLEC5A_uc011krm.1_Missense_Mutation_p.D36N|CLEC5A_uc003vww.1_Missense_Mutation_p.D36N|CLEC5A_uc010lnq.1_Missense_Mutation_p.D36N|CLEC5A_uc010lnr.1_RNA	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	C-type lectin, superfamily member 5	36	Extracellular (Potential).				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity				0	Melanoma(164;0.0171)					GTGAAACCATCGTTACTTTTG	0.438		NaN											0	0	0	0.003954	0	27	54				
TRPV6	55503	broad.mit.edu	37	7	142569636	142569636	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:142569636C>T	uc003wbx.1	-	15	2218	c.2002G>A	c.(2002-2004)GAG>AAG	p.E668K	TRPV6_uc003wbw.1_Missense_Mutation_p.E454K|TRPV6_uc010lou.1_Missense_Mutation_p.E539K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	668	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CAGCCCAGCTCTAGTTTTTCC	0.582		NaN											0	0	0	0.00499	0	17	57				
CNTNAP2	26047	broad.mit.edu	37	7	147869504	147869504	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:147869504G>C	uc003weu.1	+	18	3460	c.2944G>C	c.(2944-2946)GAG>CAG	p.E982Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	982	EGF-like 2.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAAATGCCTAGAGAGATACCA	0.473		NaN								HNSCC(39;0.1)			0	0	0	0.00333	0	26	119				
ZNF777	27153	broad.mit.edu	37	7	149129350	149129350	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:149129350C>T	uc003wfv.2	-	6	2176	c.2013G>A	c.(2011-2013)AAG>AAA	p.K671K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	671	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCGGAAGCTCTTCTTGCACT	0.622		NaN											0	0	0	0.007291	0	30	133				
CRYGN	155051	broad.mit.edu	37	7	151135092	151135092	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:151135092G>T	uc003wke.2	-	2	356	c.260C>A	c.(259-261)CCT>CAT	p.P87H	CRYGN_uc003wkf.2_Missense_Mutation_p.P87H|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	87	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTCCTACAGGCCGACAGGA	0.642		NaN											1	0	3.45872e-05	0.004007	3.5642e-05	16	52				
MLL3	58508	broad.mit.edu	37	7	151860518	151860518	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:151860518G>A	uc003wla.2	-	43	10363	c.10144C>T	c.(10144-10146)CGG>TGG	p.R3382W	MLL3_uc003wkz.2_Missense_Mutation_p.R2443W|MLL3_uc003wky.2_Missense_Mutation_p.R891W	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3382	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATTCTACCCGAGGTGGTGGT	0.458		NaN	N		medulloblastoma								0	0	0	0.01441	0	63	108		Valid		
PTPRN2	5799	broad.mit.edu	37	7	158282442	158282442	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr7:158282442C>T	uc003wno.2	-	2	269	c.148G>A	c.(148-150)GAG>AAG	p.E50K	PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Missense_Mutation_p.E50K|PTPRN2_uc003wnr.2_Missense_Mutation_p.E50K|PTPRN2_uc011kwa.1_Missense_Mutation_p.E73K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	50	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACACAGGCCTCGGACGCTCCG	0.731		NaN											0	0	0	0.009096	0	4	5				
CSMD1	64478	broad.mit.edu	37	8	2832056	2832056	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:2832056C>G	uc011kwk.1	-	56	9050	c.8660G>C	c.(8659-8661)AGA>ACA	p.R2887T	CSMD1_uc011kwj.1_Missense_Mutation_p.R2216T|CSMD1_uc010lrg.2_Missense_Mutation_p.R897T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2887	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCGCTCCCTCTGCAGGAGTA	0.597		NaN											0	0	0	0.010729	0	12	16				
NEIL2	252969	broad.mit.edu	37	8	11637344	11637344	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:11637344G>C	uc003wug.2	+	3	1051	c.376G>C	c.(376-378)GAT>CAT	p.D126H	NEIL2_uc003wue.2_Missense_Mutation_p.D126H|NEIL2_uc003wuf.2_Missense_Mutation_p.D65H|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	126					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CCCTGCAGGAGATGCTGGGAG	0.577		NaN						BER_DNA_glycosylases					0	0	0	0.003163	0	16	83				
PCM1	5108	broad.mit.edu	37	8	17813070	17813070	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:17813070C>T	uc003wyi.3	+	10	1802	c.1380C>T	c.(1378-1380)AGC>AGT	p.S460S	PCM1_uc011kyh.1_Silent_p.S460S|PCM1_uc003wyj.3_Silent_p.S460S|PCM1_uc003wyh.2_Silent_p.S499S|PCM1_uc010lta.1_Silent_p.S499S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	460					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AATCCAATAGCCTCACATCAT	0.458		NaN	T	RET|JAK2	papillary thyroid|CML|MPD								0	0	0	0.00308	0	7	23				
ADAM18	8749	broad.mit.edu	37	8	39537620	39537620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:39537620C>T	uc003xni.2	+	16	1696	c.1696C>T	c.(1696-1698)CAA>TAA	p.Q566*	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Nonsense_Mutation_p.Q542*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	566	Cys-rich.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAGTGACGCTCAATCTACAGT	0.383		NaN											0	0	0	0.001984	0	7	91				
MYST3	7994	broad.mit.edu	37	8	41906305	41906305	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:41906305G>C	uc010lxb.2	-	3	735	c.191C>G	c.(190-192)TCA>TGA	p.S64*	MYST3_uc010lxc.2_Nonsense_Mutation_p.S64*|MYST3_uc003xon.3_Nonsense_Mutation_p.S64*|MYST3_uc010lxd.2_Nonsense_Mutation_p.S64*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	64	Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TCCTTTATTTGAGACTTTTAA	0.368		NaN											0	0	0	0.005443	0	28	206				
DKK4	27121	broad.mit.edu	37	8	42232338	42232338	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:42232338G>A	uc003xpb.2	-	3	467	c.356C>T	c.(355-357)CCA>CTA	p.P119L		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	119					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTCCTGGACTGGGTGCCCAGT	0.443		NaN											0	0	0	0.01441	0	71	222				
ARFGEF1	10565	broad.mit.edu	37	8	68211501	68211501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:68211501T>C	uc003xxo.1	-	4	792	c.402A>G	c.(400-402)ATA>ATG	p.I134M		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	134					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCAGCCACATATTGTTTCAA	0.328		NaN											0	0	0	0.00308	0	8	15				
ZFHX4	79776	broad.mit.edu	37	8	77766229	77766229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:77766229C>T	uc003yav.2	+	10	7324	c.6937C>T	c.(6937-6939)CAA>TAA	p.Q2313*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q2358*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q2313*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCACTGATCAAGTGGTATA	0.493		NaN								HNSCC(33;0.089)			0	0	0	0.009535	0	29	136				
DCAF4L2	138009	broad.mit.edu	37	8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:88885613G>A	uc003ydz.2	-	1	684	c.587C>T	c.(586-588)GCG>GTG	p.A196V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	196										ovary(1)	1						AGAGTGATACGCGTGGATGCT	0.557		NaN											0	0	0	0.007835	0	42	77				
KIAA1429	25962	broad.mit.edu	37	8	95556077	95556077	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:95556077G>A	uc003ygo.1	-	2	170	c.157C>T	c.(157-159)CTG>TTG	p.L53L	KIAA1429_uc003ygp.2_Silent_p.L53L	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	53					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGTCTGGCAGACTGCTATGG	0.358		NaN											0	0	0	0.00874	0	38	166				
VPS13B	157680	broad.mit.edu	37	8	100866426	100866426	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:100866426G>A	uc003yiv.2	+	56	10995	c.10884G>A	c.(10882-10884)GCG>GCA	p.A3628A	VPS13B_uc003yiw.2_Silent_p.A3603A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3628					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACCACTGCGAGGCAGCTTG	0.562		NaN											0	0	0	0.000602	0	4	47				
OC90	729330	broad.mit.edu	37	8	133053363	133053363	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:133053363C>G	uc003ytg.2	-	4	337	c.337G>C	c.(337-339)GAG>CAG	p.E113Q	OC90_uc011lix.1_Missense_Mutation_p.E129Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	129	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGTCCATCTCAGCGGCCTCC	0.587		NaN											0	0	0	0.007291	0	21	81				
COL22A1	169044	broad.mit.edu	37	8	139701194	139701194	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:139701194C>A	uc003yvd.2	-	37	3275	c.2828G>T	c.(2827-2829)GGC>GTC	p.G943V	COL22A1_uc011ljo.1_Missense_Mutation_p.G243V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	943	Pro-rich.|Gly-rich.|Collagen-like 8.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCTGGGGTGCCTCTGAGGCC	0.512		NaN								HNSCC(7;0.00092)			1	0	1.15088e-07	0.004007	1.19945e-07	12	66				
TSNARE1	203062	broad.mit.edu	37	8	143396398	143396398	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:143396398G>A	uc003ywk.2	-	8	1158	c.1040C>T	c.(1039-1041)TCA>TTA	p.S347L	TSNARE1_uc011lju.1_Missense_Mutation_p.S346L|TSNARE1_uc003ywj.2_Missense_Mutation_p.S347L|TSNARE1_uc003ywl.3_Missense_Mutation_p.S127L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	347					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AATGGCATCTGAGAGCTGGGT	0.647		NaN											0	0	0	0.013537	0	11	72				
GLI4	2738	broad.mit.edu	37	8	144358969	144358969	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:144358969G>C	uc003yxx.2	+	4	1211	c.1126G>C	c.(1126-1128)GAG>CAG	p.E376Q	ZFP41_uc003yxv.2_RNA	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	376						nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACTACCGCGAGTAGCCGGG	0.736		NaN											0	0	0	0.004672	0	3	7				
SCRIB	23513	broad.mit.edu	37	8	144889748	144889748	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr8:144889748C>G	uc003yzp.1	-	16	2159	c.2152G>C	c.(2152-2154)GAG>CAG	p.E718Q	SCRIB_uc003yzo.1_Missense_Mutation_p.E718Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	718	Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAGCAGGCTCTATCAGCAGG	0.617		NaN											0	0	0	0.004482	0	7	84				
KIAA2026	158358	broad.mit.edu	37	9	5969048	5969048	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:5969048C>T	uc003zjq.3	-	3	1399	c.1183G>A	c.(1183-1185)GAA>AAA	p.E395K		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	395										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCCAGTTTTTCAGCACAGTTA	0.418		NaN											0	0	0	0.000602	0	5	19				
PTPRD	5789	broad.mit.edu	37	9	8484129	8484129	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:8484129C>T	uc003zkk.2	-	29	4114	c.3403G>A	c.(3403-3405)GAG>AAG	p.E1135K	PTPRD_uc003zkp.2_Missense_Mutation_p.E724K|PTPRD_uc003zkq.2_Missense_Mutation_p.E724K|PTPRD_uc003zkr.2_Missense_Mutation_p.E719K|PTPRD_uc003zks.2_Missense_Mutation_p.E714K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1126K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1122K|PTPRD_uc003zkn.2_Missense_Mutation_p.E724K|PTPRD_uc003zko.2_Missense_Mutation_p.E721K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1135	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTATATTCTCATTTGCAGGT	0.383		NaN								TSP Lung(15;0.13)			0	0	0	0.00308	0	6	102				
PTPRD	5789	broad.mit.edu	37	9	8518022	8518022	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:8518022T>C	uc003zkk.2	-	20	2080	c.1369A>G	c.(1369-1371)ATG>GTG	p.M457V	PTPRD_uc003zkp.2_Missense_Mutation_p.M457V|PTPRD_uc003zkq.2_Missense_Mutation_p.M457V|PTPRD_uc003zkr.2_Missense_Mutation_p.M451V|PTPRD_uc003zks.2_Missense_Mutation_p.M447V|PTPRD_uc003zkl.2_Missense_Mutation_p.M457V|PTPRD_uc003zkm.2_Missense_Mutation_p.M444V|PTPRD_uc003zkn.2_Missense_Mutation_p.M457V|PTPRD_uc003zko.2_Missense_Mutation_p.M454V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	457	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGGGATCCATTGTATAATAA	0.423		NaN								TSP Lung(15;0.13)			0	0	0	0.01441	0	61	125				
PSIP1	11168	broad.mit.edu	37	9	15486887	15486887	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:15486887C>T	uc003zlv.3	-	5	661	c.331G>A	c.(331-333)GAA>AAA	p.E111K	PSIP1_uc003zlw.3_Missense_Mutation_p.E111K|PSIP1_uc003zlz.3_Missense_Mutation_p.E111K|PSIP1_uc003zma.3_Missense_Mutation_p.E111K|PSIP1_uc003zly.2_Missense_Mutation_p.E111K	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	111					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TCCTTTTCTTCAACTTCAACA	0.318		NaN											0	0	0	0.004878	0	37	59				
C9orf93	203238	broad.mit.edu	37	9	15920318	15920318	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:15920318C>G	uc003zmd.2	+	25	3966	c.3651C>G	c.(3649-3651)ATC>ATG	p.I1217M	C9orf93_uc003zme.2_Missense_Mutation_p.I1132M|C9orf93_uc011lmu.1_Missense_Mutation_p.I1225M	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1217	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		GCACTAGAATCATGACATTAG	0.338		NaN											0	0	0	0.00308	0	8	49				
DENND4C	55667	broad.mit.edu	37	9	19324380	19324380	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:19324380C>T	uc003znq.2	+	9	1153	c.1120C>T	c.(1120-1122)CGT>TGT	p.R374C	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	374	dDENN.					integral to membrane				ovary(1)|skin(1)	2						AAGTCGAGATCGTGCCTATGC	0.279		NaN											0	0	0	0.009535	0	29	71				
SLC24A2	25769	broad.mit.edu	37	9	19619665	19619665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:19619665C>T	uc003zoa.1	-	3	1057	c.995G>A	c.(994-996)GGA>GAA	p.G332E	SLC24A2_uc003zob.1_Missense_Mutation_p.G332E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	332	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGCAGAGCTTCCACCTCGCTG	0.488		NaN											0	0	0	0.00308	0	8	103				
SHB	6461	broad.mit.edu	37	9	37948664	37948664	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:37948664C>T	uc004aax.2	-	5	1882	c.1314G>A	c.(1312-1314)CAG>CAA	p.Q438Q		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	438	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTTGCTGGTCTGGCTGTTCC	0.647		NaN											0	0	0	0.001984	0	7	68				
HNRNPK	3190	broad.mit.edu	37	9	86586835	86586835	+	Silent	SNP	C	C	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:86586835C>A	uc004ang.3	-	11	1139	c.915G>T	c.(913-915)CGG>CGT	p.R305R	HNRNPK_uc011lsw.1_Silent_p.R65R|HNRNPK_uc004and.3_Silent_p.R65R|HNRNPK_uc004ank.3_Silent_p.R305R|HNRNPK_uc004anf.3_Silent_p.R305R|HNRNPK_uc004anh.3_Silent_p.R281R|HNRNPK_uc011lsx.1_Silent_p.R281R|HNRNPK_uc004ani.3_Silent_p.R305R|HNRNPK_uc004anj.3_Silent_p.R305R|HNRNPK_uc004ann.3_Silent_p.R281R|HNRNPK_uc004anl.3_Silent_p.R305R|HNRNPK_uc004anm.3_Silent_p.R305R|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	305	5 X 4 AA repeats of G-X-G-G.|2 X 6 AA approximate repeats.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						GAGGAAGATTCCGAGCTCTGC	0.517		NaN											1	0	3.27435e-08	0.00245	3.43486e-08	13	100				
HNRNPK	3190	broad.mit.edu	37	9	86586966	86586966	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:86586966C>G	uc004ang.3	-	11	1008	c.784G>C	c.(784-786)GAC>CAC	p.D262H	HNRNPK_uc011lsw.1_Missense_Mutation_p.D22H|HNRNPK_uc004and.3_Missense_Mutation_p.D22H|HNRNPK_uc004ank.3_Missense_Mutation_p.D262H|HNRNPK_uc004anf.3_Missense_Mutation_p.D262H|HNRNPK_uc004anh.3_Missense_Mutation_p.D238H|HNRNPK_uc011lsx.1_Missense_Mutation_p.D238H|HNRNPK_uc004ani.3_Missense_Mutation_p.D262H|HNRNPK_uc004anj.3_Missense_Mutation_p.D262H|HNRNPK_uc004ann.3_Missense_Mutation_p.D238H|HNRNPK_uc004anl.3_Missense_Mutation_p.D262H|HNRNPK_uc004anm.3_Missense_Mutation_p.D262H|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	262	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						GGCATTCTGTCAAAACCACCT	0.532		NaN											0	0	0	0.003163	0	14	68				
PTCH1	5727	broad.mit.edu	37	9	98209579	98209579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:98209579C>T	uc004avk.3	-	23	4147	c.3959G>A	c.(3958-3960)AGA>AAA	p.R1320K	PTCH1_uc010mrn.2_Missense_Mutation_p.R112K|PTCH1_uc010mro.2_Missense_Mutation_p.R1169K|PTCH1_uc010mrp.2_Missense_Mutation_p.R1169K|PTCH1_uc010mrq.2_Missense_Mutation_p.R1169K|PTCH1_uc004avl.3_Missense_Mutation_p.R1169K|PTCH1_uc010mrr.2_Missense_Mutation_p.R1254K|PTCH1_uc004avm.3_Missense_Mutation_p.R1319K	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1320	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGCGTCTCTGCGCGGTCT	0.667		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.006122	0	17	77				
PTCH1	5727	broad.mit.edu	37	9	98241349	98241349	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:98241349G>A	uc004avk.3	-	8	1336	c.1148C>T	c.(1147-1149)TCA>TTA	p.S383L	PTCH1_uc010mro.2_Missense_Mutation_p.S232L|PTCH1_uc010mrp.2_Missense_Mutation_p.S232L|PTCH1_uc010mrq.2_Missense_Mutation_p.S232L|PTCH1_uc004avl.3_Missense_Mutation_p.S232L|PTCH1_uc010mrr.2_Missense_Mutation_p.S317L|PTCH1_uc004avm.3_Missense_Mutation_p.S382L|PTCH1_uc010mrs.1_Missense_Mutation_p.S103L	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	383	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTTGATGTGTGAGACATACTC	0.552		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.003954	0	26	34				
STX17	55014	broad.mit.edu	37	9	102729973	102729973	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:102729973C>T	uc004bal.3	+	7	757	c.621C>T	c.(619-621)GTC>GTT	p.V207V	STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	NM_017919	NP_060389	P56962	STX17_HUMAN	syntaxin 17	207	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAGACCATGTCAACAGTGCTG	0.493		NaN											0	0	0	0.006999	0	35	46				
OR13F1	138805	broad.mit.edu	37	9	107266864	107266864	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:107266864G>A	uc011lvm.1	+	1	321	c.321G>A	c.(319-321)ATG>ATA	p.M107I		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						CCCTTGCCATGGGCTCCACTG	0.522		NaN											0	0	0	0.00333	0	25	41				
CTNNAL1	8727	broad.mit.edu	37	9	111746665	111746665	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:111746665G>A	uc004bdo.1	-	5	733	c.691C>T	c.(691-693)CTT>TTT	p.L231F	CTNNAL1_uc010mts.1_5'Flank|CTNNAL1_uc010mtt.1_Missense_Mutation_p.L231F|CTNNAL1_uc004bdp.1_Missense_Mutation_p.L231F	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	231					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		CACTTTTCAAGAACTGCCCTA	0.348		NaN											0	0	0	0.003755	0	32	106				
EPB41L4B	54566	broad.mit.edu	37	9	112042115	112042115	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:112042115G>A	uc004bdz.1	-	2	688	c.393C>T	c.(391-393)CTC>CTT	p.L131L	EPB41L4B_uc004bea.2_Silent_p.L131L	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	131	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGCAGAGTCGAGGAACTGGA	0.443		NaN											0	0	0	0.010729	0	8	43				
CEP110	11064	broad.mit.edu	37	9	123900853	123900853	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:123900853G>C	uc004bkx.1	+	14	2264	c.2233G>C	c.(2233-2235)GAG>CAG	p.E745Q	CEP110_uc004bky.1_Missense_Mutation_p.E349Q|CEP110_uc004bkz.1_Missense_Mutation_p.E193Q|CEP110_uc004bla.1_Missense_Mutation_p.E193Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	745	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						AGCAGAACTTGAGAAGGAAAG	0.398		NaN											0	0	0	0.00245	0	13	51				
DENND1A	57706	broad.mit.edu	37	9	126143804	126143804	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:126143804C>T	uc004bnz.1	-	22	3170	c.2937G>A	c.(2935-2937)CAG>CAA	p.Q979Q	DENND1A_uc011lzl.1_Silent_p.Q797Q|DENND1A_uc004bny.1_Silent_p.Q761Q|DENND1A_uc011lzm.1_Silent_p.Q990Q|DENND1A_uc010mwh.1_Silent_p.Q400Q	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	979	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GCTTGGTTTTCTGTAACAAAT	0.647		NaN											0	0	0	0.004482	0	9	39				
CRAT	1384	broad.mit.edu	37	9	131860309	131860309	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:131860309C>T	uc004bxh.2	-	11	1729	c.1447G>A	c.(1447-1449)GAT>AAT	p.D483N	CRAT_uc004bxg.2_Missense_Mutation_p.D462N|CRAT_uc004bxk.3_Missense_Mutation_p.D462N	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	483					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CTGGAGTCATCCATGGCCTTG	0.542		NaN											0	0	0	0.006214	0	9	129				
PTGDS	5730	broad.mit.edu	37	9	139873474	139873474	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:139873474C>T	uc004cke.2	+	2	219	c.144C>T	c.(142-144)CTC>CTT	p.L48L	PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA	NM_000954	NP_000945	P41222	PTGDS_HUMAN	prostaglandin D2 synthase, brain	48					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			ovary(1)	1	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGCGGGCCTCGCCTCCAACT	0.711		NaN											0	0	0	0.009096	0	4	31				
ABCA2	20	broad.mit.edu	37	9	139908491	139908491	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr9:139908491C>T	uc011mem.1	-	27	4386	c.4238_splice	c.e27-1	p.E1413_splice	ABCA2_uc011mel.1_Splice_Site_p.E1414_splice|ABCA2_uc004ckl.1_Splice_Site_p.E1344_splice|ABCA2_uc004ckm.1_Splice_Site_p.E1444_splice|ABCA2_uc004ckn.1_Splice_Site	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCTCCACCTCTGTGCAGAGA	0.682		NaN											0	0	0	0.00308	0	7	17				
BMX	660	broad.mit.edu	37	X	15540529	15540529	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:15540529C>T	uc004cww.2	+	7	759	c.571C>T	c.(571-573)CTA>TTA	p.L191L	BMX_uc004cwx.3_Silent_p.L191L|BMX_uc004cwy.3_Silent_p.L191L	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	191					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AAGTACCACTCTAGCCCAATA	0.428		NaN											0	0	0	0.01441	0	82	24				
PORCN	64840	broad.mit.edu	37	X	48372644	48372644	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:48372644G>A	uc010nie.1	+	9	894	c.736G>A	c.(736-738)GAG>AAG	p.E246K	PORCN_uc004djr.1_Missense_Mutation_p.E241K|PORCN_uc004djs.1_Missense_Mutation_p.E235K|PORCN_uc004djt.1_Missense_Mutation_p.E164K|PORCN_uc011mlx.1_Missense_Mutation_p.E164K|PORCN_uc004dju.1_Missense_Mutation_p.E104K|PORCN_uc004djv.1_Missense_Mutation_p.E246K|PORCN_uc004djw.1_Missense_Mutation_p.E240K	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	246	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						GCGAGCCTACGAGAGTGCTGT	0.597		NaN											0	0	0	0.012319	0	19	44				
GPR173	54328	broad.mit.edu	37	X	53106308	53106308	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:53106308C>T	uc004dru.2	+	2	763	c.505C>T	c.(505-507)CGG>TGG	p.R169W		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	169	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CAAGTTTATTCGGGAGGAGGA	0.562		NaN											0	0	0	0.001984	0	6	12				
MAGEH1	28986	broad.mit.edu	37	X	55479335	55479335	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:55479335C>T	uc004dum.2	+	1	798	c.528C>T	c.(526-528)GTC>GTT	p.V176V		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	176	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AACTGAAAGTCATGCATTTTG	0.512		NaN											0	0	0	0.009718	0	43	15				
SPIN2A	54466	broad.mit.edu	37	X	57162619	57162619	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:57162619C>G	uc004dvb.2	-	2	783	c.412G>C	c.(412-414)GAG>CAG	p.E138Q		NM_019003	NP_061876	Q99865	SPI2A_HUMAN	spindlin family, member 2	138					cell cycle|gamete generation						0						TGCTCTCCCTCAAACATGTGT	0.418		NaN											0	0	0	0.00623	0	38	103				
MTMR8	55613	broad.mit.edu	37	X	63488550	63488550	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:63488550G>A	uc004dvs.2	-	14	2050	c.1982C>T	c.(1981-1983)TCT>TTT	p.S661F	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	661						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						AGTGGCCTCAGAGATGTCCAT	0.567		NaN											0	0	0	0.009096	0	4	32				
TAF7L	54457	broad.mit.edu	37	X	100542501	100542501	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:100542501C>T	uc004ehb.2	-	2	301	c.289G>A	c.(289-291)GAA>AAA	p.E97K	TAF7L_uc004eha.2_Missense_Mutation_p.E11K|TAF7L_uc004ehc.1_Missense_Mutation_p.E11K	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	97					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TTCTCAACTTCATCAGGAACT	0.348		NaN											0	0	0	0.009096	0	4	31				
BHLHB9	80823	broad.mit.edu	37	X	102004757	102004757	+	Silent	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:102004757C>T	uc010nog.2	+	4	1405	c.834C>T	c.(832-834)ATC>ATT	p.I278I	BHLHB9_uc011mrq.1_Silent_p.I278I|BHLHB9_uc011mrr.1_Silent_p.I278I|BHLHB9_uc011mrs.1_Silent_p.I278I|BHLHB9_uc011mrt.1_Silent_p.I278I|BHLHB9_uc004ejo.2_Silent_p.I278I|BHLHB9_uc011mru.1_Silent_p.I278I|BHLHB9_uc011mrv.1_Silent_p.I278I	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	278						cytoplasm|nucleus	binding			ovary(2)	2						CACAGCCTATCCCTGAGTGTC	0.483		NaN											0	0	0	0.014323	0	20	53				
SERPINA7	6906	broad.mit.edu	37	X	105281031	105281031	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:105281031G>A	uc004eme.1	-	1	35	c.19C>T	c.(19-21)CTG>TTG	p.L7L	SERPINA7_uc010npd.2_Silent_p.L7L|SERPINA7_uc010npe.1_Silent_p.L7L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	7					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	AAGAGAACCAGATACAGGAAT	0.458		NaN											0	0	0	0.00308	0	7	59				
TBC1D8B	54885	broad.mit.edu	37	X	106066677	106066677	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:106066677C>G	uc004emo.2	+	5	973	c.808C>G	c.(808-810)CCT>GCT	p.P270A	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.P270A|TBC1D8B_uc004emn.2_Missense_Mutation_p.P270A	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	270						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CCTTTATAATCCTCTACAGAT	0.313		NaN											0	0	0	0.01441	0	55	21				
VSIG1	340547	broad.mit.edu	37	X	107319443	107319443	+	Silent	SNP	A	A	G			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:107319443A>G	uc004eno.2	+	6	986	c.825A>G	c.(823-825)GAA>GAG	p.E275E	VSIG1_uc011msk.1_Silent_p.E311E	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	275	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCATCGCGGAACTTGAGTAAG	0.403		NaN											0	0	0	0.01441	0	47	18				
GLUD2	2747	broad.mit.edu	37	X	120181908	120181908	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:120181908C>T	uc004eto.2	+	1	447	c.370C>T	c.(370-372)CGC>TGC	p.R124C		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	124					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCCCATCCGGCGCGACGACGG	0.642		NaN											0	0	0	0.00499	0	18	24				
SMARCA1	6594	broad.mit.edu	37	X	128599886	128599886	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:128599886G>C	uc004eun.3	-	22	2865	c.2752C>G	c.(2752-2754)CAA>GAA	p.Q918E	SMARCA1_uc004eup.3_Missense_Mutation_p.Q906E|SMARCA1_uc011muk.1_Missense_Mutation_p.Q918E|SMARCA1_uc011mul.1_Missense_Mutation_p.Q906E	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	918					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						CGTTCAATTTGAGCCATAATT	0.328		NaN											0	0	0	0.004007	0	16	58				
HTATSF1	27336	broad.mit.edu	37	X	135593696	135593696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:135593696G>T	uc004ezw.2	+	10	2214	c.1792G>T	c.(1792-1794)GAA>TAA	p.E598*	HTATSF1_uc004ezx.2_Nonsense_Mutation_p.E598*	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	598	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAATGACTCTGAAAACTCCGA	0.388		NaN											1	0	8.58068e-18	0.007291	9.33695e-18	29	50				
L1CAM	3897	broad.mit.edu	37	X	153135920	153135920	+	Silent	SNP	G	G	A			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:153135920G>A	uc004fjb.2	-	7	837	c.729C>T	c.(727-729)CTC>CTT	p.L243L	L1CAM_uc004fjc.2_Silent_p.L243L|L1CAM_uc010nuo.2_Silent_p.L238L|L1CAM_uc004fjd.1_Silent_p.L57L|L1CAM_uc004fje.1_Silent_p.L238L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	243	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGGGAAGAGCAGGCGCG	0.602		NaN											0	0	0	0.009096	0	4	20				
TKTL1	8277	broad.mit.edu	37	X	153557916	153557916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chrX:153557916C>T	uc004fkg.2	+	13	1855	c.1669C>T	c.(1669-1671)CAG>TAG	p.Q557*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.Q551*|TKTL1_uc011mzm.1_Nonsense_Mutation_p.Q353*|TKTL1_uc004fkh.2_Nonsense_Mutation_p.Q501*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	557					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGACATTCAGGTTCATTC	0.542		NaN											0	0	0	0.00308	0	8	75				
NADK	65220	broad.mit.edu	37	1	1685647	1685647	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:1685647C>T	uc009vkw.2	-	10	1065	c.944G>A	c.(943-945)GGA>GAA	p.G315E	NADK_uc001aic.2_Missense_Mutation_p.G315E|NADK_uc001aid.3_Missense_Mutation_p.G315E|NADK_uc001aie.2_Missense_Mutation_p.G460E|NADK_uc010nyv.1_Missense_Mutation_p.G283E|NADK_uc009vkx.1_3'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CACGATCACTCCTGACAGGGA	0.701		NaN											0	0	0	0.027356	0	25	37				
NPHP4	261734	broad.mit.edu	37	1	5926434	5926434	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:5926434A>G	uc001alq.1	-	26	3909	c.3643T>C	c.(3643-3645)TCG>CCG	p.S1215P	NPHP4_uc001alr.1_Missense_Mutation_p.S157P	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1215					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACTTACGAGTAAATGATG	0.597		NaN											0	0	0	0.014758	0	4	21				
USP48	84196	broad.mit.edu	37	1	22033020	22033020	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22033020C>G	uc001bfb.2	-	17	2389	c.2151G>C	c.(2149-2151)AAG>AAC	p.K717N	USP48_uc001bfa.2_Missense_Mutation_p.K255N|USP48_uc010odq.1_Missense_Mutation_p.K729N|USP48_uc009vqc.2_Missense_Mutation_p.K651N|USP48_uc001bfc.2_Missense_Mutation_p.K717N|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	717	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGAGAGAAGTCTTTTGCTCGT	0.388		NaN											0	0	0	0.01441	0	71	143				
HSPG2	3339	broad.mit.edu	37	1	22191497	22191497	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:22191497C>G	uc001bfj.2	-	36	4505	c.4465G>C	c.(4465-4467)GAT>CAT	p.D1489H	HSPG2_uc009vqd.2_Missense_Mutation_p.D1490H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1489	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGAGCTCATCCAGGTCGGCC	0.711		NaN											0	0	0	0.014758	0	4	4				
EPHB2	2048	broad.mit.edu	37	1	23111208	23111208	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23111208G>A	uc009vqj.1	+	3	595	c.450G>A	c.(448-450)GTG>GTA	p.V150V	EPHB2_uc001bge.2_Silent_p.V150V|EPHB2_uc001bgf.2_Silent_p.V150V|EPHB2_uc010odu.1_Silent_p.V150V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	150	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCTCCCAGGTGGACCTGGGTG	0.597		NaN							Hereditary_Prostate_Cancer				0	0	0	0.001984	0	6	47				
KDM1A	23028	broad.mit.edu	37	1	23380296	23380296	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:23380296G>A	uc001bgi.2	+	4	843	c.694G>A	c.(694-696)GAG>AAG	p.E232K	KDM1A_uc001bgj.2_Missense_Mutation_p.E252K	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	232	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GCTGACATTTGAGGCTACTCT	0.333		NaN											0	0	0	0.024245	0	13	62				
RCAN3	11123	broad.mit.edu	37	1	24857725	24857725	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:24857725C>G	uc001bjj.2	+	3	526	c.213C>G	c.(211-213)CTC>CTG	p.L71L	RCAN3_uc009vrd.2_Silent_p.L71L|RCAN3_uc009vre.2_Intron|RCAN3_uc009vrf.2_Silent_p.L71L|RCAN3_uc009vrg.2_Intron	NM_013441	NP_038469	Q9UKA8	RCAN3_HUMAN	Down syndrome critical region gene 1-like 2	71					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTGAAGCACTCTTCACCATCT	0.388		NaN											0	0	0	0.024245	0	14	171				
RHCE	6006	broad.mit.edu	37	1	25729100	25729100	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:25729100C>T	uc001bkf.2	-	3	559	c.473G>A	c.(472-474)AGT>AAT	p.S158N	RHCE_uc001bkg.2_Missense_Mutation_p.S158N|RHCE_uc001bkh.2_Missense_Mutation_p.S158N|RHCE_uc001bki.2_Missense_Mutation_p.S158N|RHCE_uc001bkj.2_Missense_Mutation_p.S142N	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	158						integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATATTACTGATGACCAT	0.532		NaN											0	0	0	0.021022	0	35	178				
MAN1C1	57134	broad.mit.edu	37	1	26073233	26073233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:26073233G>T	uc001bkm.2	+	3	1042	c.712G>T	c.(712-714)GAG>TAG	p.E238*	MAN1C1_uc009vry.1_Nonsense_Mutation_p.E58*	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	238	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGAGTTCCAGGAGGCCAAGGC	0.642		NaN											1	0	2.44723e-14	0.024334	2.63928e-14	23	35				
ZBTB8A	653121	broad.mit.edu	37	1	33058581	33058581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33058581C>T	uc001bvn.2	+	3	534	c.49C>T	c.(49-51)CAG>TAG	p.Q17*	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Nonsense_Mutation_p.Q17*	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGAACGAGCAGCGCAGGCA	0.418		NaN											0	0	0	0.021523	0	25	36				
YARS	8565	broad.mit.edu	37	1	33272134	33272134	+	Silent	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:33272134T>A	uc001bvy.1	-	4	1247	c.459A>T	c.(457-459)GTA>GTT	p.V153V		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	153			Missing (in CMTDIC).		apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCACCTGCTTTACCACCTCAG	0.542		NaN											0	0	0	0.009535	0	29	141				
NT5C1A	84618	broad.mit.edu	37	1	40131908	40131908	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40131908G>A	uc001cdq.1	-	2	136	c.136C>T	c.(136-138)CCC>TCC	p.P46S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	46					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAGGCTTGGGCTGCAGAGGT	0.582		NaN											0	0	0	0.014758	0	5	93				
STIL	6491	broad.mit.edu	37	1	47716863	47716863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:47716863G>A	uc001crc.1	-	17	3964	c.3809C>T	c.(3808-3810)TCA>TTA	p.S1270L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1224L|STIL_uc010omo.1_Missense_Mutation_p.S1253L|STIL_uc001crd.1_Missense_Mutation_p.S1271L|STIL_uc001cre.1_Missense_Mutation_p.S1270L	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1270					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGTGCCTACTGAATTCATGCT	0.383		NaN											0	0	0	0.01441	0	82	70				
ZNHIT6	54680	broad.mit.edu	37	1	86172186	86172186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:86172186C>G	uc001dlh.2	-	2	795	c.661G>C	c.(661-663)GAG>CAG	p.E221Q	ZNHIT6_uc010osc.1_Missense_Mutation_p.E182Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	221	HIT-type.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						CCACAAGTCTCACACCTACAA	0.318		NaN											0	0	0	0.01441	0	64	115				
BRDT	676	broad.mit.edu	37	1	92441909	92441909	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:92441909C>A	uc001dok.3	+	5	881	c.532C>A	c.(532-534)CCT>ACT	p.P178T	BRDT_uc001dol.3_Missense_Mutation_p.P178T|BRDT_uc010osz.1_Missense_Mutation_p.P182T|BRDT_uc009wdf.2_Missense_Mutation_p.P105T|BRDT_uc010ota.1_Missense_Mutation_p.P132T|BRDT_uc010otb.1_Missense_Mutation_p.P132T|BRDT_uc001dom.3_Missense_Mutation_p.P178T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCAAGAAATTCCTTCTGTATT	0.403		NaN											1	0	4.36969e-10	0.016723	4.60926e-10	12	83				
BCAR3	8412	broad.mit.edu	37	1	94027918	94027918	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:94027918C>G	uc001dpz.2	-	12	2633	c.2358G>C	c.(2356-2358)TTG>TTC	p.L786F	BCAR3_uc001dqa.2_Missense_Mutation_p.L786F|BCAR3_uc001dqb.2_Missense_Mutation_p.L786F|BCAR3_uc001dpx.3_Missense_Mutation_p.L462F|BCAR3_uc001dpy.2_Missense_Mutation_p.L695F	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	786	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGCCCCATAGCAATCGCATTT	0.388		NaN											0	0	0	0.01441	0	74	72				
CSF1	1435	broad.mit.edu	37	1	110456967	110456967	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:110456967G>A	uc001dyu.2	+	2	539	c.126G>A	c.(124-126)ATG>ATA	p.M42I	CSF1_uc001dyt.2_Missense_Mutation_p.M42I|CSF1_uc001dyv.3_Missense_Mutation_p.M42I|CSF1_uc001dyw.3_Missense_Mutation_p.M42I	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	42	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAGCCACATGATTGGGAGTG	0.582		NaN											0	0	0	0.013537	0	13	54				
RAP1A	5906	broad.mit.edu	37	1	112246033	112246033	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:112246033C>A	uc001ebi.2	+	5	363	c.259C>A	c.(259-261)CAG>AAG	p.Q87K	RAP1A_uc001ebk.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebl.2_Missense_Mutation_p.Q87K|RAP1A_uc001ebm.2_RNA	NM_002884	NP_002875	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family precursor	87					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity				0		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TATTACAGCTCAGTCCACGTT	0.358		NaN											1	0	8.24728e-16	0.024334	8.95473e-16	23	93				
FCGR1B	2210	broad.mit.edu	37	1	120930097	120930097	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:120930097G>A	uc001eip.2	-	4	554	c.504C>T	c.(502-504)TGC>TGT	p.C168C	FCGR1B_uc001eiq.2_Silent_p.C76C|FCGR1B_uc010oxl.1_RNA|FCGR1B_uc009whr.2_Silent_p.C168C|FCGR1B_uc009whs.2_Silent_p.C169C	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor	168	Extracellular (Potential).|Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity				0	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCATGCCTGAGCAATGGTAGG	0.408		NaN											0	0	0	0.01441	0	37	230				
HORMAD1	84072	broad.mit.edu	37	1	150676596	150676596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:150676596G>A	uc001evk.1	-	12	1052	c.946C>T	c.(946-948)CAG>TAG	p.Q316*	HORMAD1_uc001evl.1_Nonsense_Mutation_p.Q309*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.Q236*	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	316					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTTATACCTGAGAATGAGAA	0.299		NaN											0	0	0	0.021553	0	5	77				
IVL	3713	broad.mit.edu	37	1	152882824	152882824	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:152882824A>T	uc001fau.2	+	2	597	c.551A>T	c.(550-552)GAG>GTG	p.E184V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	184	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|4.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggcagctggagctcccagag	0.055		NaN											0	0	0	0.004672	0	3	7				
INTS3	65123	broad.mit.edu	37	1	153744827	153744827	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153744827C>G	uc009wom.2	+	28	2953	c.2732C>G	c.(2731-2733)TCT>TGT	p.S911C	INTS3_uc001fct.2_Missense_Mutation_p.S911C|INTS3_uc001fcu.2_Missense_Mutation_p.S603C|INTS3_uc001fcv.2_Missense_Mutation_p.S705C|INTS3_uc010peb.1_Missense_Mutation_p.S705C|INTS3_uc001fcw.2_Missense_Mutation_p.S424C|INTS3_uc010pec.1_Missense_Mutation_p.S424C|INTS3_uc001fcy.2_Missense_Mutation_p.S208C|INTS3_uc001fcx.2_Missense_Mutation_p.S208C	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	912					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGGAGCTCTAGCAGCAAG	0.592		NaN									OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.020292	0	13	101				
DENND4B	9909	broad.mit.edu	37	1	153906649	153906649	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153906649C>T	uc001fdd.1	-	19	3304	c.2903G>A	c.(2902-2904)CGA>CAA	p.R968Q	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	968										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTGCCCCTCGGGCACTGCC	0.642		NaN											0	0	0	0.009096	0	4	10				
DENND4B	9909	broad.mit.edu	37	1	153910053	153910053	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910053C>G	uc001fdd.1	-	15	2544	c.2143G>C	c.(2143-2145)GAG>CAG	p.E715Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	715										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAAGAGACTCAAACAACTCA	0.607		NaN											0	0	0	0.001984	0	7	32				
DENND4B	9909	broad.mit.edu	37	1	153910278	153910278	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:153910278C>T	uc001fdd.1	-	14	2428	c.2027G>A	c.(2026-2028)GGA>GAA	p.G676E		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	676										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCTCACTTCCTGACAGCTC	0.542		NaN											0	0	0	0.027356	0	28	177				
MEX3A	92312	broad.mit.edu	37	1	156047421	156047421	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156047421C>T	uc001fnd.3	-	2	507	c.507G>A	c.(505-507)CCG>CCA	p.P169P		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	169	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCCCTCACCGGTGTCTTGA	0.587		NaN											0	0	0	0.008291	0	10	16				
IQGAP3	128239	broad.mit.edu	37	1	156521553	156521553	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:156521553G>A	uc001fpf.2	-	15	1753	c.1678C>T	c.(1678-1680)CCT>TCT	p.P560S	IQGAP3_uc009wsb.1_Missense_Mutation_p.P517S	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	560					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCGACAGGGAGGCTGACA	0.572		NaN											0	0	0	0.027356	0	25	49				
BAT2L2	23215	broad.mit.edu	37	1	171506532	171506532	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:171506532G>A	uc010pmg.1	+	15	2684	c.2418G>A	c.(2416-2418)CTG>CTA	p.L806L	BAT2L2_uc010pmh.1_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	806							protein C-terminus binding				0						CTCGTATGCTGTGGGGGTCAG	0.458		NaN											0	0	0	0.014758	0	5	31				
PIGC	5279	broad.mit.edu	37	1	172410895	172410895	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:172410895C>T	uc001gil.2	-	2	1149	c.868G>A	c.(868-870)GAA>AAA	p.E290K	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.E290K|PIGC_uc001gio.2_Missense_Mutation_p.E290K	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	290					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GACAAGTCTTCCTTGATTTCA	0.388		NaN											0	0	0	0.01441	0	49	543				
RABGAP1L	9910	broad.mit.edu	37	1	174247872	174247872	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:174247872C>G	uc001gjx.2	+	10	1473	c.1278C>G	c.(1276-1278)TTC>TTG	p.F426L	RABGAP1L_uc009wwq.1_Missense_Mutation_p.F438L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.F389L|RABGAP1L_uc001gjy.2_Missense_Mutation_p.F94L|RABGAP1L_uc001gjz.2_Missense_Mutation_p.F73L	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	426					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						TTTGGTATTTCAGCAGAAAGA	0.423		NaN											0	0	0	0.01441	0	148	320				
FAM129A	116496	broad.mit.edu	37	1	184792404	184792404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:184792404C>G	uc001gra.2	-	8	1076	c.882G>C	c.(880-882)TTG>TTC	p.L294F	FAM129A_uc001grb.1_Missense_Mutation_p.L57F|FAM129A_uc009wyh.1_Missense_Mutation_p.L122F|FAM129A_uc009wyi.1_Missense_Mutation_p.L92F	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	294					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						ATTCCTCCTTCAAGGCACTTA	0.458		NaN											0	0	0	0.020292	0	15	242				
ADORA1	134	broad.mit.edu	37	1	203134960	203134960	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:203134960G>A	uc001gze.1	+	4	1346	c.913G>A	c.(913-915)GAC>AAC	p.D305N	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.D305N|ADORA1_uc010pqg.1_Missense_Mutation_p.D237N|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.D338N	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	305	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GATTTGGAATGACCATTTCCG	0.572		NaN											0	0	0	0.004007	0	16	38				
PLXNA2	5362	broad.mit.edu	37	1	208227794	208227794	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:208227794G>C	uc001hgz.2	-	14	3586	c.2828C>G	c.(2827-2829)ACG>AGG	p.T943R		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	943	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGGACTTCGTCATGAACTC	0.592		NaN											0	0	0	0.00499	0	18	55				
USH2A	7399	broad.mit.edu	37	1	216348659	216348659	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:216348659C>T	uc001hku.1	-	21	4949	c.4562G>A	c.(4561-4563)CGT>CAT	p.R1521H	USH2A_uc001hkv.2_Missense_Mutation_p.R1521H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1521	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTATGAAACGGATTCCTTT	0.428		NaN								HNSCC(13;0.011)			0	0	0	0.00499	0	17	48				
HHIPL2	79802	broad.mit.edu	37	1	222696178	222696178	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:222696178G>A	uc001hnh.1	-	9	1998	c.1940C>T	c.(1939-1941)TCT>TTT	p.S647F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	647					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TGCACTGGAAGATTTTCTAGC	0.433		NaN											0	0	0	0.014323	0	22	150				
OBSCN	84033	broad.mit.edu	37	1	228464926	228464926	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:228464926C>T	uc009xez.1	+	24	6710	c.6666C>T	c.(6664-6666)CTC>CTT	p.L2222L	OBSCN_uc001hsn.2_Silent_p.L2222L|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2222	Ig-like 22.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCAGGAGCCTCACCATTTACC	0.637		NaN											0	0	0	0.001984	0	6	7				
OR2C3	81472	broad.mit.edu	37	1	247694861	247694861	+	Missense_Mutation	SNP	G	G	A	rs147306837		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:247694861G>A	uc009xgy.2	-	2	1315	c.953C>T	c.(952-954)GCG>GTG	p.A318V	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTAAATTTGCGCCAGCTTGCC	0.512		NaN											0	0	0	0.004007	0	16	42				
AKR1E2	83592	broad.mit.edu	37	10	4889679	4889679	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:4889679G>A	uc001ihi.2	+	10	1036	c.921_splice	c.e10-1	p.I307_splice	AKR1E2_uc001ihl.1_Intron|AKR1E2_uc009xhw.2_Splice_Site_p.I209_splice|AKR1E2_uc001ihj.2_Splice_Site|AKR1E2_uc001ihk.2_Splice_Site_p.I250_splice	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2							cytoplasm	1,5-anhydro-D-fructose reductase activity				0						CTGTTTTTCAGAACTAAAAAT	0.343		NaN											0	0	0	0.024245	0	14	106				
PFKFB3	5209	broad.mit.edu	37	10	6262698	6262698	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:6262698G>T	uc001ije.2	+	8	1085	c.701G>T	c.(700-702)CGC>CTC	p.R234L	PFKFB3_uc001ijd.2_Missense_Mutation_p.R214L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R248L|PFKFB3_uc001ijf.2_Missense_Mutation_p.R234L	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	234	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						ATCCAGAGCCGCATCGTGTAC	0.622		NaN											1	0	2.35188e-11	0.006122	2.49175e-11	16	115				
FAM171A1	221061	broad.mit.edu	37	10	15325988	15325988	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:15325988C>T	uc001iob.2	-	2	221	c.214G>A	c.(214-216)GGC>AGC	p.G72S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	72	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AAGGCGACGCCATCAGTCCCC	0.577		NaN											0	0	0	0.027356	0	29	21				
ZNF33B	7582	broad.mit.edu	37	10	43088814	43088815	+	Missense_Mutation	DNP	AT	AT	TA	rs149558146	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:43088814_43088815AT>TA	uc001jaf.1	-	5	1698_1699	c.1583_1584AT>TA	c.(1582-1584)TAT>TTA	p.Y528L	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.Y416L|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	528	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCCCACATTCATAACATTCATA	0.411		NaN											0	0	0	0.004672	0	49	104				
PPA1	5464	broad.mit.edu	37	10	71978536	71978536	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:71978536G>C	uc001jqv.1	-	3	268	c.161C>G	c.(160-162)TCT>TGT	p.S54C		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	54					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						TTTTGCATTAGACCAGCGTGG	0.403		NaN											0	0	0	0.016723	0	12	16				
OIT3	170392	broad.mit.edu	37	10	74692170	74692170	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:74692170G>T	uc001jte.1	+	9	1744	c.1526G>T	c.(1525-1527)TGT>TTT	p.C509F	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	509	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					CGTTCCCGCTGTGCCCAGGGT	0.567		NaN											1	0	3.38236e-24	0.027894	3.73145e-24	38	93				
ZMIZ1	57178	broad.mit.edu	37	10	81050724	81050724	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:81050724G>A	uc001kaf.2	+	10	1121	c.549G>A	c.(547-549)GGG>GGA	p.G183G	ZMIZ1_uc001kag.2_Silent_p.G59G|ZMIZ1_uc001kah.1_Silent_p.G59G	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	183					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGTCCTTGGGAACCCTATGG	0.567		NaN											0	0	0	0.020292	0	15	39				
RNLS	55328	broad.mit.edu	37	10	90342026	90342026	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:90342026G>T	uc001kfe.2	-	2	292	c.157C>A	c.(157-159)CAG>AAG	p.Q53K	RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.Q53K	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	53						extracellular region	oxidoreductase activity			ovary(1)	1						GCTGTGCACTGAGGATTATGA	0.433		NaN											1	0	2.80697e-09	0.010729	2.94794e-09	11	18				
NPM3	10360	broad.mit.edu	37	10	103542092	103542092	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:103542092A>C	uc001ktt.2	-	4	364	c.341T>G	c.(340-342)TTC>TGC	p.F114C		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	114							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTGGAGCTGGAAGTCATCCAG	0.592		NaN											0	0	0	0.004672	0	3	10				
C10orf79	80217	broad.mit.edu	37	10	105942272	105942272	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:105942272C>T	uc001kxw.2	-	17	2258	c.2142_splice	c.e17-1	p.K714_splice	C10orf79_uc009xxq.2_Splice_Site_p.K22_splice|C10orf79_uc001kxx.3_Splice_Site_p.K715_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217												0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TCCAAATCGCCTATATTAATA	0.323		NaN											0	0	0	0.008291	0	10	37				
RAB11FIP2	22841	broad.mit.edu	37	10	119799755	119799755	+	Silent	SNP	C	C	A	rs138355819		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:119799755C>A	uc001ldj.1	-	2	1115	c.675G>T	c.(673-675)GCG>GCT	p.A225A	RAB11FIP2_uc009xyz.1_Silent_p.A225A	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	225					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		ACATTGAATGCGCTGACGAGA	0.443		NaN											1	0	4.34086e-07	0.023175	4.50962e-07	36	134				
DMBT1	1755	broad.mit.edu	37	10	124339407	124339407	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:124339407C>T	uc001lgk.1	+	10	1099	c.993C>T	c.(991-993)GTC>GTT	p.V331V	DMBT1_uc001lgl.1_Silent_p.V331V|DMBT1_uc001lgm.1_Silent_p.V331V|DMBT1_uc009xzz.1_Silent_p.V331V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.V183V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	331	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACGCTGGTGTCATCTGCTCAG	0.527		NaN											0	0	0	0.020292	0	14	60				
C10orf137	26098	broad.mit.edu	37	10	127414265	127414265	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr10:127414265G>T	uc001liq.1	+	6	943	c.650G>T	c.(649-651)GGA>GTA	p.G217V	C10orf137_uc001lin.2_Missense_Mutation_p.G217V|C10orf137_uc001lio.1_Missense_Mutation_p.G217V|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGGTGATGGAGCCGCTCAG	0.453		NaN											1	0	9.31168e-06	0.016723	9.61141e-06	12	38				
ANO9	338440	broad.mit.edu	37	11	433382	433382	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:433382G>A	uc001lpi.2	-	4	367	c.282C>T	c.(280-282)CTC>CTT	p.L94L	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	94	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAGGCTCCAGGAGGAAAGTGC	0.647		NaN											0	0	0	0.007413	0	19	75				
CTSD	1509	broad.mit.edu	37	11	1782618	1782618	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:1782618C>T	uc001luc.1	-	2	282	c.149G>A	c.(148-150)GGC>GAC	p.G50D	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	50					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAGACGGGGCCTTTGGCAAT	0.622		NaN											0	0	0	0.024245	0	15	43				
OSBPL5	114879	broad.mit.edu	37	11	3111839	3111839	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:3111839C>G	uc001lxk.2	-	20	2505	c.2347G>C	c.(2347-2349)GAG>CAG	p.E783Q	OSBPL5_uc010qxq.1_Missense_Mutation_p.E694Q|OSBPL5_uc009ydw.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxl.2_Missense_Mutation_p.E715Q|OSBPL5_uc001lxj.2_Missense_Mutation_p.E237Q	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	783					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGCAGGACTCAGGCGTGGAT	0.667		NaN											0	0	0	0.009096	0	4	34				
RRM1	6240	broad.mit.edu	37	11	4127384	4127384	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:4127384G>C	uc001lyw.3	+	3	536	c.217G>C	c.(217-219)GAC>CAC	p.D73H	RRM1_uc009yeh.1_Intron|RRM1_uc009yei.2_Missense_Mutation_p.D33H|RRM1_uc010qyc.1_Intron	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	73	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAGCACCCTGACTATGCTAT	0.448		NaN											0	0	0	0.008871	0	18	41				
DNHD1	144132	broad.mit.edu	37	11	6588563	6588563	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:6588563C>G	uc001mdw.3	+	36	12388	c.11824C>G	c.(11824-11826)CTG>GTG	p.L3942V	DNHD1_uc001mea.3_Missense_Mutation_p.L211V|DNHD1_uc001meb.2_Missense_Mutation_p.L210V|DNHD1_uc001mec.2_Missense_Mutation_p.L210V|DNHD1_uc010rao.1_Missense_Mutation_p.L200V|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3942					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGCTTTGGCTCTGCTGCAAGC	0.597		NaN											0	0	0	0.00499	0	17	47				
ABCC8	6833	broad.mit.edu	37	11	17464306	17464306	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:17464306T>A	uc001mnc.2	-	10	1717	c.1591A>T	c.(1591-1593)ACC>TCC	p.T531S	ABCC8_uc010rcy.1_Missense_Mutation_p.T530S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	531	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGAGGCTGGTCATCTCCTTC	0.607		NaN											0	0	0	0.013537	0	13	65				
KIF18A	81930	broad.mit.edu	37	11	28057955	28057955	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:28057955G>A	uc001msc.2	-	14	2387	c.2205C>T	c.(2203-2205)ATC>ATT	p.I735I		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	735					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TGTTTGAGCTGATAGCCTGAA	0.353		NaN											0	0	0	0.01441	0	56	153				
EXT2	2132	broad.mit.edu	37	11	44129413	44129413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:44129413G>T	uc001mxz.2	+	2	485	c.151G>T	c.(151-153)GAG>TAG	p.E51*	EXT2_uc010rfo.1_Nonsense_Mutation_p.E79*|EXT2_uc001mxy.2_Nonsense_Mutation_p.E64*|EXT2_uc009ykt.2_Nonsense_Mutation_p.E51*|EXT2_uc001mya.2_Nonsense_Mutation_p.E84*	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	51	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CCATTCTATCGAGTCCTCAAA	0.532		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				1	0	3.07112e-06	0.010729	3.17679e-06	12	207				
MAPK8IP1	9479	broad.mit.edu	37	11	45924345	45924345	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:45924345G>C	uc001nbr.2	+	5	1197	c.1027G>C	c.(1027-1029)GAG>CAG	p.E343Q		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	343					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		GTCGTCCCCAGAGCGGGCTGA	0.721		NaN											0	0	0	0.009096	0	4	12				
ACP2	53	broad.mit.edu	37	11	47267305	47267305	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:47267305C>T	uc001nei.2	-	4	495	c.378G>A	c.(376-378)GGG>GGA	p.G126G	ACP2_uc010rhe.1_Silent_p.G98G|ACP2_uc009ylj.2_Silent_p.G54G|ACP2_uc010rhf.1_Silent_p.G94G|ACP2_uc010rhg.1_Silent_p.G126G|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Silent_p.G126G|ACP2_uc010rhj.1_Silent_p.G126G|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	126	Lumenal (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						AGCGCTGCATCCCGTTGGGAG	0.572		NaN											0	0	0	0.007413	0	16	127				
OR4A5	81318	broad.mit.edu	37	11	51411989	51411989	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:51411989C>T	uc001nhi.1	-	1	407	c.407G>A	c.(406-408)CGA>CAA	p.R136Q		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GCAAACCTGTCGATTCATGAT	0.478		NaN											0	0	0	0.016723	0	13	89				
OR8H3	390152	broad.mit.edu	37	11	55889867	55889867	+	Missense_Mutation	SNP	G	G	A	rs148197076		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:55889867G>A	uc001nii.1	+	1	19	c.19G>A	c.(19-21)GAC>AAC	p.D7N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TAGAAGGAATGACACAAATGT	0.323		NaN											0	0	0	0.01441	0	45	187				
OR4D9	390199	broad.mit.edu	37	11	59283252	59283252	+	Silent	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283252G>T	uc010rkv.1	+	1	867	c.867G>T	c.(865-867)CTG>CTT	p.L289L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTACACGCTGAGGAATCAGG	0.453		NaN											1	0	6.32553e-13	0.024334	6.7463e-13	27	188				
OR4D9	390199	broad.mit.edu	37	11	59283288	59283288	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:59283288G>A	uc010rkv.1	+	1	903	c.903G>A	c.(901-903)CTG>CTA	p.L301L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGAGGAAACTGAAGAGACGGC	0.388		NaN											0	0	0	0.010504	0	21	132				
VPS37C	55048	broad.mit.edu	37	11	60901556	60901556	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:60901556C>G	uc001nqv.1	-	3	277	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	VPS37C_uc001nqw.1_Missense_Mutation_p.E73Q	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	73					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0						TTCCGGAGCTCCTGGTATCTA	0.617		NaN											0	0	0	0.013114	0	43	120				
TRPT1	83707	broad.mit.edu	37	11	63991404	63991404	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:63991404C>G	uc001nyo.2	-	8	920	c.706G>C	c.(706-708)GAG>CAG	p.E236Q	TRPT1_uc010rnc.1_Missense_Mutation_p.E237Q|TRPT1_uc010rnd.1_Missense_Mutation_p.E238Q|TRPT1_uc001nyn.2_Missense_Mutation_p.E187Q|TRPT1_uc010rne.1_Missense_Mutation_p.E199Q|TRPT1_uc010rnf.1_Missense_Mutation_p.E236Q|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	236							tRNA 2'-phosphotransferase activity				0						CTCTGACACTCTGTCTCTTCA	0.398		NaN											0	0	0	0.016723	0	13	116				
FKBP2	2286	broad.mit.edu	37	11	64010754	64010754	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64010754C>T	uc001nyy.2	+	3	451	c.255C>T	c.(253-255)GTC>GTT	p.V85V	FKBP2_uc010rnh.1_Silent_p.V85V|FKBP2_uc001nyz.2_Silent_p.V85V	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	85	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						CAGGCCAGGTCATCAAGGGCT	0.622		NaN											0	0	0	0.004007	0	17	57				
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64033975C>G	uc001nzb.2	+	29	3365	c.3365C>G	c.(3364-3366)ACG>AGG	p.T1122R	PLCB3_uc009ypg.1_Missense_Mutation_p.T1122R|PLCB3_uc009yph.1_Missense_Mutation_p.T1055R|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						AGGGAACTGACGGAGATTAAC	0.652		NaN											0	0	0	0.008291	0	9	66				
SLC22A12	116085	broad.mit.edu	37	11	64360326	64360326	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64360326G>A	uc001oam.1	+	2	1225	c.478G>A	c.(478-480)GCT>ACT	p.A160T	SLC22A12_uc009ypr.1_Missense_Mutation_p.A160T|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.A160T|SLC22A12_uc001oan.1_Missense_Mutation_p.A160T|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	160	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TCTGGTGGGAGCTGCTGCGTG	0.632		NaN											0	0	0	0.014323	0	21	105				
ATG2A	23130	broad.mit.edu	37	11	64665359	64665359	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64665359C>T	uc001obx.2	-	35	5061	c.4946G>A	c.(4945-4947)GGA>GAA	p.G1649E	ATG2A_uc001obw.2_Missense_Mutation_p.G414E	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1649							protein binding			ovary(1)|central_nervous_system(1)	2						GTGTCCACCTCCTGGGGCCTC	0.697		NaN											0	0	0	0.004482	0	7	49				
PPP2R5B	5526	broad.mit.edu	37	11	64699064	64699064	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:64699064A>G	uc001oby.2	+	10	1564	c.979A>G	c.(979-981)ACC>GCC	p.T327A	PPP2R5B_uc001obz.2_Missense_Mutation_p.T327A	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	327					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CTGGCCAAAAACCTGCACCCA	0.587		NaN											0	0	0	0.004672	0	3	16				
PPFIA1	8500	broad.mit.edu	37	11	70201868	70201868	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:70201868G>A	uc001opo.2	+	18	2637	c.2439G>A	c.(2437-2439)AAG>AAA	p.K813K	PPFIA1_uc001opn.1_Silent_p.K813K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	813					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGTTTGGCAAGAAAGAAAAGG	0.547		NaN											0	0	0	0.007291	0	27	62				
RNF121	55298	broad.mit.edu	37	11	71668300	71668300	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:71668300G>C	uc001ora.2	+	2	431	c.91G>C	c.(91-93)GAG>CAG	p.E31Q	RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	31						integral to membrane	zinc ion binding				0						CTCTCCAGAAGAGCAATGGAG	0.443		NaN											0	0	0	0.024334	0	21	103				
KDM4D	55693	broad.mit.edu	37	11	94731431	94731431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:94731431C>T	uc001pfe.2	+	3	1727	c.895C>T	c.(895-897)CGA>TGA	p.R299*		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	299	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGCCACTCCGCGATGGATTGA	0.537		NaN											0	0	0	0.007413	0	19	81				
MMP10	4319	broad.mit.edu	37	11	102645984	102645984	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:102645984G>C	uc001phg.1	-	7	1023	c.1001C>G	c.(1000-1002)TCT>TGT	p.S334C		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	334	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGATGGAAGAGAGGGCCAAAA	0.353		NaN											0	0	0	0.004007	0	15	74				
ARHGAP20	57569	broad.mit.edu	37	11	110582896	110582896	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:110582896G>C	uc001pkz.1	-	2	344	c.59C>G	c.(58-60)TCC>TGC	p.S20C	ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	20					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTGTCAGGGAAGAGGAGCG	0.483		NaN											0	0	0	0.001984	0	6	6				
TTC36	143941	broad.mit.edu	37	11	118399370	118399370	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:118399370G>C	uc001ptg.1	+	2	171	c.171G>C	c.(169-171)CAG>CAC	p.Q57H	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	57	TPR 1.						binding				0						TGGAGCTGCAGGGGGTGATGG	0.607		NaN											0	0	0	0.020292	0	14	77				
OR8D1	283159	broad.mit.edu	37	11	124180599	124180599	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:124180599C>T	uc010sag.1	-	1	64	c.64G>A	c.(64-66)GAG>AAG	p.E22K		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCTGGAGCTCTGCTTGCTGT	0.453		NaN											0	0	0	0.01441	0	61	132				
HYLS1	219844	broad.mit.edu	37	11	125769668	125769668	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:125769668G>A	uc009zbv.2	+	4	939	c.405G>A	c.(403-405)CTG>CTA	p.L135L	HYLS1_uc001qcx.3_Silent_p.L135L|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	135						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GACAAAGGCTGATGAATGTAC	0.383		NaN											0	0	0	0.01441	0	52	118				
NTM	50863	broad.mit.edu	37	11	132016342	132016342	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr11:132016342C>A	uc001qgp.2	+	2	998	c.334C>A	c.(334-336)CCT>ACT	p.P112T	NTM_uc001qgm.2_Missense_Mutation_p.P112T|NTM_uc010sch.1_Missense_Mutation_p.P103T|NTM_uc010sci.1_Missense_Mutation_p.P112T|NTM_uc010scj.1_Missense_Mutation_p.P71T|NTM_uc001qgo.2_Missense_Mutation_p.P112T|NTM_uc001qgq.2_Missense_Mutation_p.P112T	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.P112H(1)		ovary(4)|central_nervous_system(1)|skin(1)	6						TGACGAGGGCCCTTACACCTG	0.577		NaN											1	0	1.49906e-05	0.020292	1.544e-05	12	88				
KLRB1	3820	broad.mit.edu	37	12	9752379	9752379	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:9752379G>T	uc010sgt.1	-	3	305	c.243C>A	c.(241-243)AGC>AGA	p.S81R		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B,	81	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						TTTTATTCCTGCTCTGTTGAA	0.264		NaN											1	0	5.73435e-26	0.01441	6.34074e-26	42	127				
WBP11	51729	broad.mit.edu	37	12	14949871	14949871	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:14949871C>T	uc001rci.2	-	5	418	c.257G>A	c.(256-258)CGT>CAT	p.R86H		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	86	Potential.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						AAAGGTTTCACGCAGCTTTTT	0.338		NaN											0	0	0	0.01892	0	24	98				
RECQL	5965	broad.mit.edu	37	12	21624414	21624414	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:21624414G>C	uc001rex.2	-	14	1963	c.1615C>G	c.(1615-1617)CGT>GGT	p.R539G	RECQL_uc001rey.2_Missense_Mutation_p.R539G	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	539					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						AGATCTTCACGAGGAAGTGTG	0.388		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.007291	0	26	133				
ITPR2	3709	broad.mit.edu	37	12	26709193	26709193	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709193C>A	uc001rhg.2	-	36	5354	c.4937G>T	c.(4936-4938)AGA>ATA	p.R1646I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1646	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACATCTTATTCTTGCATCGCT	0.458		NaN											1	0	1.14856e-27	0.01441	1.27295e-27	59	134				
ITPR2	3709	broad.mit.edu	37	12	26709224	26709224	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:26709224C>T	uc001rhg.2	-	36	5323	c.4906G>A	c.(4906-4908)GAA>AAA	p.E1636K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1636	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AACAGCAGTTCTGGACTGTAC	0.473		NaN											0	0	0	0.01441	0	46	111				
OVCH1	341350	broad.mit.edu	37	12	29598224	29598224	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:29598224G>C	uc001rix.1	-	23	2868	c.2868C>G	c.(2866-2868)GTC>GTG	p.V956V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	956	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGACTTTCAAGACAATATAGC	0.353		NaN											0	0	0	0.007835	0	40	97				
C12orf35	55196	broad.mit.edu	37	12	32133998	32133998	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:32133998C>G	uc001rks.2	+	4	523	c.109C>G	c.(109-111)CAG>GAG	p.Q37E		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	37										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CACAACATCTCAGAGTTCTTT	0.393		NaN											0	0	0	0.012319	0	23	120				
C12orf44	60673	broad.mit.edu	37	12	52470629	52470629	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:52470629G>A	uc001rzu.3	+	4	787	c.312G>A	c.(310-312)CAG>CAA	p.Q104Q	C12orf44_uc009zmd.2_Silent_p.Q104Q|uc009zme.1_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	104					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		AGTTCTACCAGAAGAAGAAGT	0.592		NaN											0	0	0	0.00632	0	28	53				
KRT79	338785	broad.mit.edu	37	12	53216964	53216964	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53216964G>C	uc001sbb.2	-	7	1236	c.1203C>G	c.(1201-1203)CTC>CTG	p.L401L	KRT79_uc001sba.2_Silent_p.L172L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	401	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GAGCATCCTTGAGTGCCAGCT	0.617		NaN											0	0	0	0.016522	0	24	43				
MFSD5	84975	broad.mit.edu	37	12	53646663	53646663	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:53646663C>A	uc001sci.1	+	2	235	c.44C>A	c.(43-45)TCC>TAC	p.S15Y	MFSD5_uc001sch.1_Missense_Mutation_p.S122Y	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	15	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3						CTCCTGGCCTCCTGCCTGGGG	0.592		NaN											1	0	8.16277e-20	0.027894	8.96414e-20	42	65				
NCKAP1L	3071	broad.mit.edu	37	12	54902260	54902260	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:54902260C>T	uc001sgc.3	+	5	530	c.451C>T	c.(451-453)CGG>TGG	p.R151W	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R101W	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	151					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GATTGAAGATCGGCGGATACT	0.423		NaN											0	0	0	0.01441	0	136	259				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:57485457T>C	uc001smz.2	+	2	1011	c.633T>C	c.(631-633)CCT>CCC	p.P211P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCTCCCCCCCTGCAGGGGGAG	0.711		NaN											0	0	0	0.020292	0	7	28				
PTPRB	5787	broad.mit.edu	37	12	70963557	70963557	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:70963557C>G	uc001swb.3	-	12	2908	c.2878G>C	c.(2878-2880)GAG>CAG	p.E960Q	PTPRB_uc010sto.1_Missense_Mutation_p.E960Q|PTPRB_uc010stp.1_Missense_Mutation_p.E870Q|PTPRB_uc001swc.3_Missense_Mutation_p.E1178Q|PTPRB_uc001swa.3_Missense_Mutation_p.E1090Q|PTPRB_uc001swd.3_Missense_Mutation_p.E1177Q|PTPRB_uc009zrr.1_Missense_Mutation_p.E1057Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	960	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AACGTGTGCTCAAAGACGTGC	0.542		NaN											0	0	0	0.012319	0	19	58				
PPP1R12A	4659	broad.mit.edu	37	12	80200075	80200075	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:80200075G>C	uc001syz.2	-	13	1961	c.1694C>G	c.(1693-1695)TCT>TGT	p.S565C	PPP1R12A_uc010suc.1_Missense_Mutation_p.S478C|PPP1R12A_uc001sza.2_Intron|PPP1R12A_uc010sud.1_Missense_Mutation_p.S565C|PPP1R12A_uc001szb.2_Missense_Mutation_p.S565C|PPP1R12A_uc001szc.2_Missense_Mutation_p.S565C	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	565	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TGGAACACTAGAACTAATCAA	0.388		NaN											0	0	0	0.01441	0	50	281				
PPFIA2	8499	broad.mit.edu	37	12	81746948	81746948	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:81746948C>G	uc001szo.1	-	17	2105	c.1944G>C	c.(1942-1944)ACG>ACC	p.T648T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	574										ovary(3)|lung(2)|pancreas(1)	6						TCATGGCTAGCGTCTGGGCAT	0.383		NaN											0	0	0	0.019004	0	33	112				
IKBIP	121457	broad.mit.edu	37	12	99028127	99028127	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:99028127C>G	uc001tfv.2	-	2	354	c.244G>C	c.(244-246)GAA>CAA	p.E82Q	IKBIP_uc001tfw.2_Intron|IKBIP_uc001tfx.2_Missense_Mutation_p.E82Q	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	82					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TCATTGGTTTCTAGTTTCAGT	0.328		NaN											0	0	0	0.004482	0	9	55				
MMAB	326625	broad.mit.edu	37	12	110002954	110002954	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:110002954C>T	uc001tou.2	-	4	391	c.318G>A	c.(316-318)AAG>AAA	p.K106K	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Silent_p.K15K|MMAB_uc001tox.2_Silent_p.K54K	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	106					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTATGGCCCTTTTCTGTGA	0.463		NaN											0	0	0	0.027894	0	38	120				
TBX5	6910	broad.mit.edu	37	12	114793706	114793706	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:114793706G>A	uc001tvo.2	-	9	1683	c.1188C>T	c.(1186-1188)ATC>ATT	p.I396I	TBX5_uc001tvp.2_Silent_p.I396I|TBX5_uc001tvq.2_Silent_p.I346I	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	396					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGTTGCAGCTGATGTCCTCTA	0.632		NaN											0	0	0	0.00499	0	15	72				
C12orf49	79794	broad.mit.edu	37	12	117175649	117175649	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:117175649G>A	uc001tvz.1	-	1	195	c.57C>T	c.(55-57)CTC>CTT	p.L19L	RNFT2_uc009zwn.2_5'Flank|RNFT2_uc001twb.3_5'Flank|RNFT2_uc001twa.3_5'Flank|C12orf49_uc009zwm.1_Missense_Mutation_p.R42C	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	19						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		AGACCAGGGCGAGCACCCACC	0.542		NaN											0	0	0	0.004482	0	7	30				
SBNO1	55206	broad.mit.edu	37	12	123830066	123830066	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:123830066G>T	uc010tap.1	-	3	289	c.289C>A	c.(289-291)CCA>ACA	p.P97T	SBNO1_uc010tao.1_Missense_Mutation_p.P96T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.P97T|SBNO1_uc001ueu.2_Missense_Mutation_p.P96T|SBNO1_uc001uev.2_Missense_Mutation_p.P95T|SBNO1_uc009zxy.1_Missense_Mutation_p.P62T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	97							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCAAGGGTGGAAGATGATTT	0.378		NaN											1	0	1.05317e-09	0.020292	1.10848e-09	14	69				
CHFR	55743	broad.mit.edu	37	12	133420656	133420656	+	Silent	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:133420656C>A	uc001ulf.2	-	16	1920	c.1836G>T	c.(1834-1836)CTG>CTT	p.L612L	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.L600L|CHFR_uc010tbs.1_Silent_p.L611L|CHFR_uc001uld.2_Silent_p.L571L|CHFR_uc010tbt.1_Silent_p.L520L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	612					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ACTGATAGGTCAGCTCACGGA	0.542		NaN											1	0	1.80694e-10	0.009535	1.9102e-10	28	31				
FAM123A	219287	broad.mit.edu	37	13	25744470	25744470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:25744470C>G	uc001uqb.2	-	1	1388	c.1288G>C	c.(1288-1290)GAG>CAG	p.E430Q	FAM123A_uc001uqa.2_Missense_Mutation_p.E311Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E311Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	430										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCGTCCACCTCGTCCGGGCTG	0.652		NaN											0	0	0	0.006214	0	9	22				
WASF3	10810	broad.mit.edu	37	13	27216530	27216530	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:27216530G>A	uc001uqv.2	+	3	348	c.123G>A	c.(121-123)CTG>CTA	p.L41L	WASF3_uc001uqw.2_Silent_p.L41L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	41					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TACGCCAGCTGAGCAGTCTGA	0.418		NaN											0	0	0	0.01441	0	69	140				
FLT1	2321	broad.mit.edu	37	13	28880827	28880827	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:28880827G>A	uc001usb.3	-	29	4088	c.3803C>T	c.(3802-3804)TCG>TTG	p.S1268L	FLT1_uc010aap.2_Missense_Mutation_p.S273L|FLT1_uc010aaq.2_Missense_Mutation_p.S393L|FLT1_uc001usa.3_Missense_Mutation_p.S486L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1268	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532		NaN											0	0	0	0.012319	0	22	45				
DCLK1	9201	broad.mit.edu	37	13	36445432	36445432	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:36445432G>A	uc001uvf.2	-	5	1102	c.869C>T	c.(868-870)TCA>TTA	p.S290L	uc001uvi.1_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	290	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTGCGGGATGATGAAGCTAT	0.507		NaN											0	0	0	0.01441	0	75	106				
ENOX1	55068	broad.mit.edu	37	13	43872592	43872592	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:43872592C>T	uc001uza.3	-	12	1636	c.1336G>A	c.(1336-1338)GAG>AAG	p.E446K	ENOX1_uc001uzb.3_Missense_Mutation_p.E446K|ENOX1_uc001uzc.3_Missense_Mutation_p.E446K|ENOX1_uc001uyz.3_Missense_Mutation_p.E55K	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	446	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AGCTCCACCTCATTCCTGTAG	0.522		NaN											0	0	0	0.016723	0	13	151				
ZC3H13	23091	broad.mit.edu	37	13	46543642	46543642	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:46543642C>T	uc010tfw.1	-	13	3043	c.3037G>A	c.(3037-3039)GAT>AAT	p.D1013N	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.D1013N|ZC3H13_uc001vat.1_Missense_Mutation_p.D1013N	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1013	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATATCAGAATCACCTTTGGAT	0.373		NaN											0	0	0	0.008291	0	10	64				
UCHL3	7347	broad.mit.edu	37	13	76124114	76124114	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:76124114C>T	uc001vjq.2	+	2	75	c.45C>T	c.(43-45)GTC>GTT	p.V15V		NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	15					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		GTTTTCAGGTCACCAACCAGG	0.622		NaN									OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	84	119				
SLITRK1	114798	broad.mit.edu	37	13	84453946	84453946	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:84453946C>T	uc001vlk.2	-	1	2583	c.1697G>A	c.(1696-1698)AGA>AAA	p.R566K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	566	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAATCCTTTCTAAAGAAGTT	0.517		NaN											0	0	0	0.004482	0	8	41				
MYO16	23026	broad.mit.edu	37	13	109777464	109777464	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:109777464C>G	uc001vqt.1	+	30	3600	c.3474C>G	c.(3472-3474)ATC>ATG	p.I1158M	MYO16_uc010agk.1_Missense_Mutation_p.I1180M|MYO16_uc010tjh.1_Missense_Mutation_p.I670M	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1158	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAAAAGTTATCAGAGGATTTT	0.383		NaN											0	0	0	0.007413	0	17	45				
MCF2L	23263	broad.mit.edu	37	13	113718683	113718683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr13:113718683C>A	uc001vsu.2	+	6	748	c.726C>A	c.(724-726)GAC>GAA	p.D242E	MCF2L_uc001vsq.2_Missense_Mutation_p.D242E|MCF2L_uc010tjr.1_Missense_Mutation_p.D185E|MCF2L_uc001vsr.2_Missense_Mutation_p.D189E|MCF2L_uc001vss.3_Missense_Mutation_p.D183E|MCF2L_uc010tjs.1_Missense_Mutation_p.D183E|MCF2L_uc001vst.1_Missense_Mutation_p.D147E	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	215	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGACCGAGGACCTGGGTGGGA	0.612		NaN											1	0	0.00621372	0.006214	0.00627899	9	73				
CMTM5	116173	broad.mit.edu	37	14	23846484	23846484	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:23846484G>A	uc010akm.2	+	1	468	c.24G>A	c.(22-24)CGG>CGA	p.R8R	CMTM5_uc001wjs.2_Silent_p.R8R|CMTM5_uc001wjt.2_Silent_p.R8R|CMTM5_uc010akn.2_Silent_p.R8R|CMTM5_uc001wju.2_Silent_p.R8R|CMTM5_uc010ako.2_RNA	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	8					chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GAGATCGCCGGGACCGGCACC	0.612		NaN											0	0	0	0.008291	0	9	54				
IRF9	10379	broad.mit.edu	37	14	24635333	24635333	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24635333G>A	uc001wmq.2	+	9	1237	c.1110G>A	c.(1108-1110)ATG>ATA	p.M370I	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Missense_Mutation_p.M154I	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	370					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CAATACAGATGGAGCAGGCCT	0.592		NaN											0	0	0	0.020292	0	13	23				
NYNRIN	57523	broad.mit.edu	37	14	24878489	24878489	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:24878489G>A	uc001wpf.3	+	4	1807	c.1489G>A	c.(1489-1491)GAT>AAT	p.D497N		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	497					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGAGCCGGGGGATCAAGGGAG	0.572		NaN											0	0	0	0.008291	0	9	37				
PCNX	22990	broad.mit.edu	37	14	71374675	71374675	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:71374675C>G	uc001xmo.2	+	1	554	c.108C>G	c.(106-108)CTC>CTG	p.L36L	PCNX_uc001xmn.3_Silent_p.L36L|PCNX_uc010are.1_Silent_p.L36L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	36	Helical; (Potential).					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGCTGCACCTCTACCTGTGGC	0.687		NaN											0	0	0	0.004482	0	6	12				
HEATR4	399671	broad.mit.edu	37	14	73967257	73967257	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:73967257C>G	uc010tub.1	-	12	2605	c.2283G>C	c.(2281-2283)AAG>AAC	p.K761N	HEATR4_uc010tua.1_Missense_Mutation_p.K714N	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GACTCACCATCTTGTCGCGGA	0.532		NaN											0	0	0	0.013114	0	41	35				
C14orf45	80127	broad.mit.edu	37	14	74523874	74523874	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:74523874C>T	uc010tup.1	+	11	1614	c.1491C>T	c.(1489-1491)ATC>ATT	p.I497I	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	497											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AAGATAAAATCTTCATCACCC	0.398		NaN											0	0	0	0.007291	0	22	77				
DICER1	23405	broad.mit.edu	37	14	95569761	95569761	+	Silent	SNP	C	C	T	rs45562437	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr14:95569761C>T	uc001ydw.2	-	22	4154	c.3972G>A	c.(3970-3972)AAG>AAA	p.K1324K	DICER1_uc010avh.1_Silent_p.K222K|DICER1_uc001ydv.2_Silent_p.K1314K|DICER1_uc001ydx.2_Silent_p.K1324K|DICER1_uc001ydy.1_Silent_p.K176K	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1324	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGATGGCATGCTTTAAAAAGG	0.428		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.014758	0	4	63				
UBE3A	7337	broad.mit.edu	37	15	25585264	25585264	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:25585264C>T	uc001zaq.2	-	10	2475	c.2475G>A	c.(2473-2475)ATG>ATA	p.M825I	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.M802I|UBE3A_uc001zas.2_Missense_Mutation_p.M822I|UBE3A_uc001zat.2_Missense_Mutation_p.M802I	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	825	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGGCTATAATCATCTTTAATT	0.393		NaN											0	0	0	0.014323	0	22	88				
RYR3	6263	broad.mit.edu	37	15	33927868	33927868	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:33927868G>A	uc001zhi.2	+	26	3299	c.3229G>A	c.(3229-3231)GAG>AAG	p.E1077K	RYR3_uc010bar.2_Missense_Mutation_p.E1077K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1077	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCCGGGTAGAGCGATCTTA	0.522		NaN											0	0	0	0.004007	0	14	31				
ITPKA	3706	broad.mit.edu	37	15	41793928	41793928	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:41793928C>T	uc001znz.2	+	3	693	c.682C>T	c.(682-684)CGC>TGC	p.R228C		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	228					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGACGCGCTGCGCGGCTGCGT	0.682		NaN											0	0	0	0.014758	0	5	13				
SPTBN5	51332	broad.mit.edu	37	15	42143103	42143103	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:42143103G>A	uc001zos.2	-	66	11098	c.10765C>T	c.(10765-10767)CCG>TCG	p.P3589S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTTCGGACGGTGCTGCAAAC	0.682		NaN											0	0	0	0.004482	0	7	7				
TP53BP1	7158	broad.mit.edu	37	15	43784619	43784619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43784619G>A	uc001zrs.2	-	2	188	c.40C>T	c.(40-42)CAG>TAG	p.Q14*	TP53BP1_uc010udp.1_Nonsense_Mutation_p.Q14*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Q19*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q19*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	14					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTATCTTGCTGAGAGAAATCT	0.453		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.009718	0	43	153				
MAP1A	4130	broad.mit.edu	37	15	43816516	43816516	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:43816516G>C	uc001zrt.2	+	4	3312	c.2845G>C	c.(2845-2847)GAG>CAG	p.E949Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	949						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAAACGTAGAGATGTCTGA	0.517		NaN											0	0	0	0.007413	0	19	115				
UNC13C	440279	broad.mit.edu	37	15	54308011	54308011	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:54308011T>A	uc002ack.2	+	1	2911	c.2911T>A	c.(2911-2913)TCT>ACT	p.S971T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	971	Potential.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTCGTCCTTCTTTCAAAGA	0.388		NaN											0	0	0	0.001984	0	5	13				
CELF6	60677	broad.mit.edu	37	15	72608198	72608198	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:72608198C>T	uc002auh.2	-	2	643	c.333G>A	c.(331-333)AAG>AAA	p.K111K	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Silent_p.K111K|CELF6_uc002aui.2_Missense_Mutation_p.D234N|CELF6_uc002auj.2_5'UTR	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	111	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						CTGGCAGGGTCTTCTGCTCGT	0.637		NaN											0	0	0	0.004672	0	3	7				
FURIN	5045	broad.mit.edu	37	15	91423194	91423194	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:91423194C>T	uc002bpu.1	+	12	1572	c.1356C>T	c.(1354-1356)ATC>ATT	p.I452I		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	452					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGTGCATCATCGACATCCTCA	0.667		NaN											0	0	0	0.001984	0	7	24				
MSLNL	401827	broad.mit.edu	37	16	824500	824500	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:824500G>A	uc002cjz.1	-	8	1741	c.1741C>T	c.(1741-1743)CCT>TCT	p.P581S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	230	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CAGGAGCCAGGGGGCCTTGTG	0.716		NaN											0	0	0	0.006214	0	7	3				
ZSCAN10	84891	broad.mit.edu	37	16	3140353	3140353	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3140353C>T	uc002ctv.1	-	5	1005	c.917G>A	c.(916-918)CGC>CAC	p.R306H	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R224H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R234H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	306	C2H2-type 1.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGCCTTCAGGCGAGACAGCTG	0.642		NaN											0	0	0	0.007413	0	19	60				
ZNF263	10127	broad.mit.edu	37	16	3333838	3333838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:3333838C>T	uc002cuq.2	+	1	352	c.20C>T	c.(19-21)TCC>TTC	p.S7F	ZNF263_uc010uww.1_Intron|ZNF263_uc002cup.2_Missense_Mutation_p.S7F	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GGCCCGGGCTCCCAGGAACGG	0.682		NaN											0	0	0	0.004482	0	8	24				
GRIN2A	2903	broad.mit.edu	37	16	9857275	9857275	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:9857275G>A	uc002czo.3	-	13	4674	c.4126C>T	c.(4126-4128)CGC>TGC	p.R1376C	GRIN2A_uc010uym.1_Missense_Mutation_p.R1376C|GRIN2A_uc010uyn.1_Silent_p.N1104N|GRIN2A_uc002czr.3_Silent_p.N1261N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1376	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAACCAAGCGTTGGTCATCC	0.562		NaN											0	0	0	0.016723	0	13	80				
SMG1	23049	broad.mit.edu	37	16	18823360	18823360	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:18823360C>G	uc002dfm.2	-	61	11074	c.10711G>C	c.(10711-10713)GCT>CCT	p.A3571P	SMG1_uc010bwb.2_Missense_Mutation_p.A3431P|SMG1_uc010bwa.2_Missense_Mutation_p.A2302P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3571					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GGAGTATCAGCTGATGTAGCA	0.453		NaN											0	0	0	0.010729	0	10	66				
CLN3	1201	broad.mit.edu	37	16	28489120	28489120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28489120G>C	uc002dpo.2	-	14	1458	c.1135C>G	c.(1135-1137)CTG>GTG	p.L379V	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.L301V|CLN3_uc010vcu.1_Missense_Mutation_p.L279V|CLN3_uc002dpn.2_Missense_Mutation_p.L280V|CLN3_uc002dpm.2_Missense_Mutation_p.L325V|CLN3_uc010vcv.1_Missense_Mutation_p.L355V|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.L379V|CLN3_uc002dpt.1_Missense_Mutation_p.L279V|CLN3_uc002dpq.1_Missense_Mutation_p.L331V|CLN3_uc010bye.1_Missense_Mutation_p.L362V|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.L252V|CLN3_uc002dpu.1_Missense_Mutation_p.L277V	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	379					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						CCCTCATACAGAATGATCAGG	0.602		NaN											0	0	0	0.007413	0	19	76				
APOB48R	55911	broad.mit.edu	37	16	28507766	28507766	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:28507766G>C	uc002dqb.1	+	3	1387	c.1377G>C	c.(1375-1377)AAG>AAC	p.K459N	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	459	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						TGCGTGGTAAGGAGGCTGAGA	0.642		NaN											0	0	0	0.004672	0	3	23				
SALL1	6299	broad.mit.edu	37	16	51173970	51173970	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51173970C>T	uc010vgs.1	-	2	2194	c.2163G>A	c.(2161-2163)TTG>TTA	p.L721L	SALL1_uc010vgr.1_Silent_p.L624L|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	721	C2H2-type 3.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGCATTTTCAAGGCGCTCT	0.517		NaN											0	0	0	0.013537	0	13	61				
SALL1	6299	broad.mit.edu	37	16	51174338	51174338	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:51174338C>T	uc010vgs.1	-	2	1826	c.1795G>A	c.(1795-1797)GAG>AAG	p.E599K	SALL1_uc010vgr.1_Missense_Mutation_p.E502K|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	599					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGCTGACTCAGGGCCCCCG	0.602		NaN											0	0	0	0.006214	0	10	50				
CNGB1	1258	broad.mit.edu	37	16	58001085	58001085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:58001085C>G	uc002emt.2	-	2	171	c.106G>C	c.(106-108)GAG>CAG	p.E36Q	CNGB1_uc010cdh.2_Missense_Mutation_p.E36Q|CNGB1_uc002emu.2_Missense_Mutation_p.E36Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	36	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GGTTCCACCTCCGCCTCCATC	0.652		NaN											0	0	0	0.020292	0	14	47				
VAC14	55697	broad.mit.edu	37	16	70796903	70796903	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:70796903G>A	uc002ezm.2	-	11	1444	c.1186C>T	c.(1186-1188)CAC>TAC	p.H396Y	VAC14_uc010cfw.2_Missense_Mutation_p.H162Y|VAC14_uc002ezn.2_Intron|uc002ezp.1_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	396					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				CCGTCGAGGTGAAGGGTCACT	0.577		NaN											0	0	0	0.001984	0	6	30				
FANCA	2175	broad.mit.edu	37	16	89809308	89809308	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:89809308G>A	uc002fou.1	-	37	3707	c.3665C>T	c.(3664-3666)CCG>CTG	p.P1222L	FANCA_uc010vpn.1_Missense_Mutation_p.P1222L|FANCA_uc010vpo.1_Missense_Mutation_p.P308L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1222					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGCCAGTCCGGGTTGGGTGC	0.552		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.020292	0	14	31				
DBNDD1	79007	broad.mit.edu	37	16	90075252	90075252	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr16:90075252C>G	uc002fqf.1	-	3	447	c.259G>C	c.(259-261)GAG>CAG	p.E87Q	DBNDD1_uc002fqe.1_Missense_Mutation_p.E107Q|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	87						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGCCAGCTCCTGGTCCGAC	0.642		NaN											0	0	0	0.004672	0	3	14				
P2RX1	5023	broad.mit.edu	37	17	3819557	3819557	+	Translation_Start_Site	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:3819557C>T	uc002fww.2	-	1	404	c.-37G>A	c.(-39--35)CCGTG>CCATG		P2RX1_uc010ckm.1_Translation_Start_Site	NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCCTGCACGGCCTCTGCT	0.677		NaN											0	0	0	0.010729	0	12	70				
KIF1C	10749	broad.mit.edu	37	17	4905823	4905823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:4905823C>G	uc002gan.1	+	7	820	c.494C>G	c.(493-495)TCT>TGT	p.S165C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	165	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						AGTCGGGGTTCTCTGCGGGTC	0.547		NaN											0	0	0	0.01441	0	146	64				
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:7574021C>A	uc002gim.2	-	10	1200	c.1006G>T	c.(1006-1008)GAG>TAG	p.E336*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E204*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E336*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	336	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGAAGCGCTCACGCCCACGG	0.438		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	5.61819e-17	0.027356	6.1417e-17	26	12		Valid		
PIPOX	51268	broad.mit.edu	37	17	27370279	27370279	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:27370279G>A	uc002hdr.1	+	1	362	c.36G>A	c.(34-36)GTG>GTA	p.V12V		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	12	FAD (Potential).				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ACGCCATTGTGATTGGGGCGG	0.597		NaN											0	0	0	0.024245	0	15	60				
TMEM132E	124842	broad.mit.edu	37	17	32955650	32955650	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:32955650C>T	uc002hif.2	+	4	1125	c.797C>T	c.(796-798)TCG>TTG	p.S266L		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	266	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATGTGACCTCGGAGCTGCTG	0.612		NaN											0	0	0	0.00308	0	7	38				
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:36484690C>T	uc002hpz.2	-	11	4783	c.4762G>A	c.(4762-4764)GCC>ACC	p.A1588T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1588	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502		NaN											0	0	0	0.01441	0	123	274				
EIF1	10209	broad.mit.edu	37	17	39846394	39846394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39846394C>T	uc002hxj.2	+	3	414	c.250C>T	c.(250-252)CAG>TAG	p.Q84*	JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_RNA	NM_005801	NP_005792	P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	84					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGAAGTAATTCAGCTACAGGG	0.458		NaN											0	0	0	0.007413	0	15	108				
HAP1	9001	broad.mit.edu	37	17	39883363	39883363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:39883363C>A	uc002hxm.1	-	10	1477	c.1465G>T	c.(1465-1467)GAG>TAG	p.E489*	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E437*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E420*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E412*	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	489	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGAGCTCCTCAGCCAGCGTC	0.577		NaN											1	0	0.004672	0.004672	0.004741	3	10				
GPATCH8	23131	broad.mit.edu	37	17	42475934	42475934	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:42475934C>T	uc002igw.1	-	8	3575	c.3511G>A	c.(3511-3513)GAG>AAG	p.E1171K	GPATCH8_uc002igv.1_Missense_Mutation_p.E1093K|GPATCH8_uc010wiz.1_Missense_Mutation_p.E1093K	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1171						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTTCTTGCTCTTCCCCCCTT	0.517		NaN											0	0	0	0.023175	0	37	194				
SP2	6668	broad.mit.edu	37	17	45993797	45993797	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:45993797C>T	uc002imk.2	+	3	497	c.360C>T	c.(358-360)ATC>ATT	p.I120I	SP2_uc002iml.2_Silent_p.I113I|uc002imm.2_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	120					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						CCACCATGATCAACAAAGGGA	0.507		NaN											0	0	0	0.012213	0	31	99				
TTLL6	284076	broad.mit.edu	37	17	46865191	46865191	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:46865191G>T	uc010wlo.1	-	12	1606	c.1571C>A	c.(1570-1572)GCT>GAT	p.A524D	TTLL6_uc002iob.2_Missense_Mutation_p.A217D|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A277D|TTLL6_uc002iod.2_Missense_Mutation_p.A371D	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	476						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						CTCCTCCCGAGCCCTGGAAGC	0.532		NaN											1	0	1.50039e-11	0.012319	1.59665e-11	20	144				
ANKFN1	162282	broad.mit.edu	37	17	54450093	54450093	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:54450093G>C	uc002iun.1	+	6	732	c.697G>C	c.(697-699)GAG>CAG	p.E233Q		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	233	Potential.									large_intestine(1)|ovary(1)	2						TGCCCAGGTGGAGAATGAAGG	0.512		NaN											0	0	0	0.008361	0	32	130				
PRR11	55771	broad.mit.edu	37	17	57262920	57262920	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57262920G>A	uc002ixf.1	+	4	478	c.399G>A	c.(397-399)CTG>CTA	p.L133L	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	133										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGGAAGCACTGAAGGTTGGTA	0.224		NaN											0	0	0	0.020292	0	14	65				
DHX40	79665	broad.mit.edu	37	17	57684430	57684430	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:57684430G>C	uc002ixn.1	+	18	2384	c.2237G>C	c.(2236-2238)AGA>ACA	p.R746T	DHX40_uc010woe.1_Missense_Mutation_p.R669T|DHX40_uc010wof.1_Missense_Mutation_p.R261T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	746							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAATGCAAAGAAGAAATGAT	0.388		NaN											0	0	0	0.007413	0	19	79				
KCNH6	81033	broad.mit.edu	37	17	61615899	61615899	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61615899C>G	uc002jay.2	+	8	1910	c.1830C>G	c.(1828-1830)TTC>TTG	p.F610L	KCNH6_uc010wpl.1_Missense_Mutation_p.F487L|KCNH6_uc010wpm.1_Missense_Mutation_p.F610L|KCNH6_uc002jaz.1_Missense_Mutation_p.F557L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	610	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CCGTCAAGTTCAAGACCACCC	0.677		NaN											0	0	0	0.006214	0	10	9				
STRADA	92335	broad.mit.edu	37	17	61784042	61784042	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:61784042C>T	uc002jbm.2	-	10	970	c.811G>A	c.(811-813)GAA>AAA	p.E271K	STRADA_uc002jbn.2_Missense_Mutation_p.E213K|STRADA_uc002jbo.2_Missense_Mutation_p.E234K|STRADA_uc002jbp.2_Missense_Mutation_p.E234K|STRADA_uc002jbq.2_Missense_Mutation_p.E213K|STRADA_uc010wpq.1_Missense_Mutation_p.E227K|STRADA_uc010wpr.1_Missense_Mutation_p.E242K|STRADA_uc010ddw.2_Missense_Mutation_p.E242K|STRADA_uc002jbr.2_Missense_Mutation_p.E210K	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	271	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						TTGGCCAGTTCACAGGCTGTG	0.488		NaN											0	0	0	0.00874	0	39	203				
CACNG4	27092	broad.mit.edu	37	17	64961111	64961111	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:64961111C>T	uc002jft.1	+	1	99	c.84C>T	c.(82-84)ATC>ATT	p.I28I		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	28	Helical; (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCATCGCCATCGGCACCGACT	0.552		NaN											0	0	0	0.006214	0	8	21				
NOL11	25926	broad.mit.edu	37	17	65733721	65733721	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65733721G>T	uc002jgd.1	+	12	1319	c.1316G>T	c.(1315-1317)GGA>GTA	p.G439V	NOL11_uc010wql.1_Missense_Mutation_p.G257V|NOL11_uc010deu.1_Missense_Mutation_p.G34V	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	439						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGTAACAGGACTTCTGGAA	0.423		NaN											1	0	1.3466e-33	0.01441	1.49588e-33	85	175				
BPTF	2186	broad.mit.edu	37	17	65908180	65908180	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr17:65908180G>C	uc002jgf.2	+	11	4241	c.4180G>C	c.(4180-4182)GAG>CAG	p.E1394Q	BPTF_uc002jge.2_Missense_Mutation_p.E1520Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1520					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGAAAATCGAGAGTCTGAAAA	0.299		NaN											0	0	0	0.014323	0	23	71				
METTL4	64863	broad.mit.edu	37	18	2544739	2544739	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:2544739A>C	uc002klh.3	-	7	1874	c.1094T>G	c.(1093-1095)TTT>TGT	p.F365C	METTL4_uc010dkj.2_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	365					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						TGGGAACACAAATTCTCCTGA	0.403		NaN											0	0	0	0.021523	0	22	82				
LAMA3	3909	broad.mit.edu	37	18	21485566	21485566	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:21485566G>A	uc002kuq.2	+	52	6782	c.6696G>A	c.(6694-6696)ATG>ATA	p.M2232I	LAMA3_uc002kur.2_Missense_Mutation_p.M2176I|LAMA3_uc002kus.3_Missense_Mutation_p.M623I|LAMA3_uc002kut.3_Missense_Mutation_p.M567I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2232	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCCAAGATGACACAAAAGA	0.448		NaN											0	0	0	0.010771	0	44	98				
CDH2	1000	broad.mit.edu	37	18	25593832	25593832	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:25593832C>G	uc002kwg.2	-	3	673	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	CDH2_uc010xbn.1_Missense_Mutation_p.E41Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	72					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TCACTGCTCTCATATTGTACT	0.368		NaN											0	0	0	0.00632	0	29	69				
PIK3C3	5289	broad.mit.edu	37	18	39584503	39584503	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:39584503G>A	uc002lap.2	+	10	1226	c.1168G>A	c.(1168-1170)GAG>AAG	p.E390K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E327K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	390					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						GGCCGATGATGAGGTGCATTA	0.443		NaN								TSP Lung(28;0.18)			0	0	0	0.001984	0	7	32				
RNF165	494470	broad.mit.edu	37	18	44030341	44030341	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:44030341C>T	uc002lcb.1	+	5	749	c.698C>T	c.(697-699)TCC>TTC	p.S233F	RNF165_uc002lby.1_Missense_Mutation_p.S166F|RNF165_uc010dnn.1_Missense_Mutation_p.S29F	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	233							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		AGACACACCTCCGCCGTACGG	0.517		NaN											0	0	0	0.008871	0	18	87				
WDR7	23335	broad.mit.edu	37	18	54688024	54688024	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:54688024G>A	uc002lgk.1	+	27	4424	c.4213G>A	c.(4213-4215)GAT>AAT	p.D1405N	WDR7_uc002lgl.1_Missense_Mutation_p.D1372N	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1405	WD 9.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTGCTCCTGATGGAAGATA	0.408		NaN											0	0	0	0.023175	0	34	143				
KCNG2	26251	broad.mit.edu	37	18	77659691	77659691	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr18:77659691G>A	uc010xfl.1	+	2	1276	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	426	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCAGCCCCGAGCCGGCCCT	0.706		NaN											0	0	0	0.016723	0	10	13				
SEMA6B	10501	broad.mit.edu	37	19	4548448	4548448	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:4548448C>G	uc010duc.1	-	12	1319	c.1281G>C	c.(1279-1281)CTG>CTC	p.L427L	SEMA6B_uc010dud.2_Silent_p.L427L|SEMA6B_uc010xih.1_Silent_p.L427L	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	427	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTCGAGTCAGCTGGTGCC	0.652		NaN											0	0	0	0.008871	0	19	22				
C3	718	broad.mit.edu	37	19	6707129	6707129	+	Missense_Mutation	SNP	G	G	A	rs117793540	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6707129G>A	uc002mfm.2	-	17	2265	c.2203C>T	c.(2203-2205)CGG>TGG	p.R735W		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	735			R -> W (in AHUS5).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCTGCCGCCGCAGCTCTGTG	0.687		NaN											0	0	0	0.016723	0	13	33				
GPR108	56927	broad.mit.edu	37	19	6731089	6731089	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:6731089C>T	uc002mfp.2	-	17	1514	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	GPR108_uc010duv.2_Missense_Mutation_p.V41M|GPR108_uc002mfn.2_Missense_Mutation_p.V145M|GPR108_uc002mfo.3_Missense_Mutation_p.V248M|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	490	Helical; Name=7; (Potential).					integral to membrane					0						CCCGTGAGCACGAAGAAGGCC	0.677		NaN											0	0	0	0.001984	0	7	27				
KRI1	65095	broad.mit.edu	37	19	10670351	10670351	+	Missense_Mutation	SNP	C	C	T	rs45518133	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:10670351C>T	uc002moy.1	-	11	988	c.979G>A	c.(979-981)GTG>ATG	p.V327M	KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.V323M	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	327	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTACGGCGCACGGAGGACGCG	0.622		NaN											0	0	0	0.016522	0	24	82				
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12792434G>T	uc002muh.1	-	1	244	c.147C>A	c.(145-147)TTC>TTA	p.F49L	DHPS_uc002muf.1_5'Flank|DHPS_uc002mug.1_5'Flank|DHPS_uc002mui.1_Missense_Mutation_p.F49L|DHPS_uc002muj.1_Missense_Mutation_p.F49L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	49					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	CGGTGGTGCCGAAGGCCTCCA	0.632		NaN											1	0	6.31663e-08	0.024245	6.5764e-08	14	44				
ASNA1	439	broad.mit.edu	37	19	12856314	12856314	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12856314G>T	uc002muv.2	+	3	447	c.433G>T	c.(433-435)GCC>TCC	p.A145S	ASNA1_uc002muw.2_Missense_Mutation_p.A144S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	145					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	CATCGATGAGGCCATGAGCTA	0.627		NaN											1	0	8.28177e-16	0.007413	8.97192e-16	20	55				
BEST2	54831	broad.mit.edu	37	19	12863496	12863496	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:12863496A>T	uc002mux.2	+	1	90	c.90A>T	c.(88-90)AAA>AAT	p.K30N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	30	Helical; (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						GCATCTACAAACTCCTGTGGC	0.527		NaN											0	0	0	0.007413	0	18	31				
C19orf57	79173	broad.mit.edu	37	19	14000730	14000730	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:14000730C>G	uc002mxl.1	-	6	998	c.939G>C	c.(937-939)CAG>CAC	p.Q313H	C19orf57_uc002mxk.1_Missense_Mutation_p.Q195H|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	313					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCTGGGGGTCTGCTGGGGGT	0.657		NaN											0	0	0	0.024245	0	15	21				
EPHX3	79852	broad.mit.edu	37	19	15338451	15338451	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:15338451C>G	uc002nap.2	-	7	1089	c.880G>C	c.(880-882)GAG>CAG	p.E294Q	EPHX3_uc002naq.2_Missense_Mutation_p.E294Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	294						extracellular region	hydrolase activity				0						GTGGTCAGCTCCTGGGGTTCC	0.532		NaN											0	0	0	0.001984	0	7	39				
IL12RB1	3594	broad.mit.edu	37	19	18174691	18174691	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:18174691C>G	uc002nhw.1	-	13	1677	c.1613G>C	c.(1612-1614)AGC>ACC	p.S538T	IL12RB1_uc010xqb.1_Missense_Mutation_p.S538T|IL12RB1_uc002nhx.1_Missense_Mutation_p.S578T	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	538	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						CTCACCGATGCTGAAGCGCTG	0.617		NaN											0	0	0	0.009096	0	3	29				
LSM14A	26065	broad.mit.edu	37	19	34685411	34685411	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:34685411G>A	uc002nvb.3	+	2	346	c.150G>A	c.(148-150)CCG>CCA	p.P50P	LSM14A_uc002nva.3_Silent_p.P50P|LSM14A_uc010xru.1_Silent_p.P50P	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	50					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					AAGACAGACCGACAGATCGTC	0.423		NaN											0	0	0	0.023175	0	35	197				
MLL4	9757	broad.mit.edu	37	19	36212267	36212267	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36212267C>T	uc010eei.2	+	3	2018	c.2018C>T	c.(2017-2019)GCT>GTT	p.A673V		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	673	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTTGGGGCTCCTGAAGCC	0.622		NaN											0	0	0	0.014758	0	5	6		Valid		
ZNF146	7705	broad.mit.edu	37	19	36727428	36727428	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36727428C>G	uc002odq.3	+	4	1609	c.86C>G	c.(85-87)TCA>TGA	p.S29*	ZNF146_uc010eet.2_Nonsense_Mutation_p.S29*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.S29*	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	29	C2H2-type 1.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					AGCCACAAATCAAACCTCACT	0.423		NaN											0	0	0	0.016522	0	23	76				
ZNF146	7705	broad.mit.edu	37	19	36728021	36728021	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:36728021C>G	uc002odq.3	+	4	2202	c.679C>G	c.(679-681)CTC>GTC	p.L227V	ZNF146_uc010eet.2_Missense_Mutation_p.L227V|ZNF146_uc010eeu.2_Missense_Mutation_p.L227V	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	227	Interaction with TERF2IP.|C2H2-type 8.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GAGCTCATCTCTCACTGTGCA	0.443		NaN											0	0	0	0.014323	0	21	154				
HNRNPUL1	11100	broad.mit.edu	37	19	41770565	41770565	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:41770565G>C	uc002oqb.3	+	1	446	c.157G>C	c.(157-159)GAA>CAA	p.E53Q	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.E53Q|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	53	Necessary for interaction with HRMT1L1.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CGCCGACGACGAACCGGGGCG	0.736		NaN											0	0	0	0.004482	0	6	19				
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:42930623C>T	uc002otr.2	-	1	956	c.679G>A	c.(679-681)GAG>AAG	p.E227K	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	227					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493		NaN											0	0	0	0.01441	0	90	71				
NLRP4	147945	broad.mit.edu	37	19	56382202	56382202	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr19:56382202C>T	uc002qmd.3	+	7	2786	c.2364C>T	c.(2362-2364)TTC>TTT	p.F788F	NLRP4_uc002qmf.2_Silent_p.F713F|NLRP4_uc010etf.2_Silent_p.F563F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	788							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGTTGGCTTTCTGCCACCTCA	0.483		NaN											0	0	0	0.01441	0	59	48				
NOL10	79954	broad.mit.edu	37	2	10799346	10799346	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:10799346C>G	uc002raq.2	-	10	833	c.708G>C	c.(706-708)TTG>TTC	p.L236F	NOL10_uc010yje.1_Missense_Mutation_p.L210F|NOL10_uc010yjf.1_Missense_Mutation_p.L186F|NOL10_uc002rap.2_Missense_Mutation_p.L236F|NOL10_uc002rar.2_Missense_Mutation_p.L86F	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	236	WD 3.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CATTAAATTTCAAAGCAGAGA	0.373		NaN											0	0	0	0.001984	0	5	17				
MYCN	4613	broad.mit.edu	37	2	16082556	16082556	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:16082556G>A	uc002rci.2	+	2	670	c.370G>A	c.(370-372)GAG>AAG	p.E124K	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E116K	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	124					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTCCGCCCGCGAGAAGCTGGA	0.642		NaN	A		neuroblastoma								0	0	0	0.006122	0	14	14				
HADHA	3030	broad.mit.edu	37	2	26437925	26437925	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26437925C>G	uc002rgy.2	-	8	926	c.796G>C	c.(796-798)GAA>CAA	p.E266Q	HADHA_uc010yks.1_Missense_Mutation_p.E179Q|HADHA_uc010ykt.1_Missense_Mutation_p.E179Q	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	266					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TACTCACTTTCCACCAATCCC	0.358		NaN											0	0	0	0.01441	0	74	146				
TMEM214	54867	broad.mit.edu	37	2	27258520	27258520	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27258520G>A	uc002ria.3	+	4	671	c.561G>A	c.(559-561)GCG>GCA	p.A187A	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Intron	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	187						integral to membrane	protein binding				0						GGCTGCTGGCGAAGGCAGCAG	0.562		NaN											0	0	0	0.013114	0	48	98				
CAD	790	broad.mit.edu	37	2	27447627	27447627	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:27447627G>A	uc002rji.2	+	10	1431	c.1269G>A	c.(1267-1269)CTG>CTA	p.L423L	CAD_uc010eyw.2_Silent_p.L423L	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	423	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTAAGGCCCTGAAGGAGGAAA	0.483		NaN											0	0	0	0.009718	0	43	212				
C2orf71	388939	broad.mit.edu	37	2	29297062	29297062	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29297062C>G	uc002rmt.1	-	1	66	c.66G>C	c.(64-66)TTG>TTC	p.L22F		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	22					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGGGCTTTTTCAAGAACTGAA	0.493		NaN											0	0	0	0.024245	0	15	100				
CLIP4	79745	broad.mit.edu	37	2	29366627	29366627	+	Missense_Mutation	SNP	C	C	G	rs138901368	byFrequency	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:29366627C>G	uc002rmv.2	+	7	940	c.701C>G	c.(700-702)CCG>CGG	p.P234R	CLIP4_uc002rmu.2_Missense_Mutation_p.P234R|CLIP4_uc010ezm.1_Missense_Mutation_p.P234R|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.P216R	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	234										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTAGATATGCCGTTAGAGATG	0.453		NaN											0	0	0	0.009535	0	30	145				
CEBPZ	10153	broad.mit.edu	37	2	37450318	37450318	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:37450318G>A	uc002rpz.2	-	3	1906	c.1876C>T	c.(1876-1878)CAT>TAT	p.H626Y		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	626					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TATACCGGATGATCATCTAGT	0.343		NaN											0	0	0	0.01441	0	55	65				
PLEK	5341	broad.mit.edu	37	2	68607517	68607517	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:68607517G>C	uc002sen.3	+	2	262	c.100G>C	c.(100-102)GAA>CAA	p.E34Q	PLEK_uc010fde.2_Missense_Mutation_p.E34Q	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	34	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATGGAATTGAATTCTATAA	0.453		NaN											0	0	0	0.01441	0	53	47				
C2orf65	130951	broad.mit.edu	37	2	74834257	74834257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:74834257G>A	uc002smy.2	-	4	637	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	C2orf65_uc010ysa.1_Nonsense_Mutation_p.Q174*|C2orf65_uc002smz.2_Nonsense_Mutation_p.Q174*	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	174					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						TCAACGACCTGAAACCTCCTG	0.443		NaN											0	0	0	0.01892	0	24	135				
C2orf89	129293	broad.mit.edu	37	2	85066332	85066332	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:85066332C>G	uc010ysl.1	-	4	1021	c.932G>C	c.(931-933)CGG>CCG	p.R311P	C2orf89_uc002sou.3_Missense_Mutation_p.R262P|C2orf89_uc002sov.2_RNA|C2orf89_uc010fgc.1_Missense_Mutation_p.R311P	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	311	Extracellular (Potential).					integral to membrane				ovary(1)	1						GGCCTTCACCCGCTTCCCTAT	0.527		NaN											0	0	0	0.012319	0	20	52				
ZNF514	84874	broad.mit.edu	37	2	95815563	95815563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:95815563G>A	uc002sue.1	-	5	1041	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	ZNF514_uc002sud.1_Nonsense_Mutation_p.Q296*	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	223	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACATCGCTGATGGCGCCTA	0.438		NaN											0	0	0	0.01441	0	48	178				
NPAS2	4862	broad.mit.edu	37	2	101584864	101584864	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:101584864C>T	uc002tap.1	+	11	1315	c.1029C>T	c.(1027-1029)TTC>TTT	p.F343F	NPAS2_uc010yvt.1_Silent_p.F408F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	343	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						AGCCCGAGTTCATCGTGTGCA	0.612		NaN											0	0	0	0.012319	0	19	79				
IL18RAP	8807	broad.mit.edu	37	2	103059778	103059778	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:103059778G>A	uc002tbx.2	+	8	1399	c.915G>A	c.(913-915)GCG>GCA	p.A305A	IL18RAP_uc010fiz.2_Silent_p.A163A	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	305	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						TACCTGAGGCGAAAAGGTAAG	0.408		NaN											0	0	0	0.010729	0	9	53				
EPB41L5	57669	broad.mit.edu	37	2	120833065	120833065	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:120833065C>G	uc002tmg.2	+	6	547	c.421C>G	c.(421-423)CTT>GTT	p.L141V	EPB41L5_uc010flk.2_Missense_Mutation_p.L141V|EPB41L5_uc010fll.2_Missense_Mutation_p.L141V|EPB41L5_uc002tmh.3_Missense_Mutation_p.L141V|EPB41L5_uc010flm.2_5'Flank	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	141	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						TTTATTTGTTCTTCAGTTAAA	0.284		NaN											0	0	0	0.020292	0	14	24				
WDR33	55339	broad.mit.edu	37	2	128520696	128520696	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:128520696C>G	uc002tpg.1	-	7	847	c.664G>C	c.(664-666)GAT>CAT	p.D222H	WDR33_uc002tph.1_Missense_Mutation_p.D222H	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	222	WD 3.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGCCGTCATCAGAGCATGTA	0.408		NaN											0	0	0	0.024334	0	25	105				
NEB	4703	broad.mit.edu	37	2	152394433	152394433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:152394433G>A	uc010fnx.2	-	112	16143	c.15952C>T	c.(15952-15954)CGT>TGT	p.R5318C	NEB_uc002txr.2_Missense_Mutation_p.R1741C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5318	Nebulin 145.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTCTGGACGATCAGGAATG	0.403		NaN											0	0	0	0.008291	0	9	42				
ACVR1C	130399	broad.mit.edu	37	2	158397605	158397605	+	Missense_Mutation	SNP	C	C	G	rs149435555		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:158397605C>G	uc002tzk.3	-	7	1465	c.1222G>C	c.(1222-1224)GGA>CGA	p.G408R	ACVR1C_uc002tzl.3_Missense_Mutation_p.G328R|ACVR1C_uc010fof.2_Missense_Mutation_p.G251R|ACVR1C_uc010foe.2_Missense_Mutation_p.G358R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	408	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						ATTTTACCTCCGACTGAACAC	0.373		NaN											0	0	0	0.021022	0	33	181				
C2orf77	129881	broad.mit.edu	37	2	170502386	170502386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:170502386G>A	uc002ufe.2	-	9	1718	c.1624C>T	c.(1624-1626)CAA>TAA	p.Q542*		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	542											0						TTTGACTTTTGAAAATTATAT	0.348		NaN											0	0	0	0.006122	0	19	58				
TTN	7273	broad.mit.edu	37	2	179471896	179471896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179471896C>T	uc010zfg.1	-	227	45953	c.45729G>A	c.(45727-45729)TGG>TGA	p.W15243*	uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W8938*|TTN_uc010zfi.1_Nonsense_Mutation_p.W8871*|TTN_uc010zfj.1_Nonsense_Mutation_p.W8746*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16170							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTGTCTCCAAGTATGCA	0.393		NaN											0	0	0	0.012213	0	32	175				
TTN	7273	broad.mit.edu	37	2	179639030	179639030	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:179639030G>C	uc010zfg.1	-	30	7185	c.6961C>G	c.(6961-6963)CAG>GAG	p.Q2321E	TTN_uc010zfh.1_Missense_Mutation_p.Q2275E|TTN_uc010zfi.1_Missense_Mutation_p.Q2275E|TTN_uc010zfj.1_Missense_Mutation_p.Q2275E|TTN_uc002unb.2_Missense_Mutation_p.Q2321E|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2321							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAGGTTCTGACGTCCACGA	0.403		NaN											0	0	0	0.021523	0	24	121				
ITGAV	3685	broad.mit.edu	37	2	187514604	187514604	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:187514604C>G	uc002upq.2	+	14	1665	c.1389C>G	c.(1387-1389)ATC>ATG	p.I463M	ITGAV_uc010frs.2_Missense_Mutation_p.I427M|ITGAV_uc010zfv.1_Missense_Mutation_p.I417M	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	463	FG-GAP 7.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATCGAGCTATCTTATACAGGT	0.289		NaN											0	0	0	0.001984	0	6	49				
ALS2CR8	79800	broad.mit.edu	37	2	203825996	203825996	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203825996G>C	uc002uzo.2	+	8	959	c.679G>C	c.(679-681)GAG>CAG	p.E227Q	ALS2CR8_uc002uzn.2_Missense_Mutation_p.E125Q|ALS2CR8_uc002uzm.2_Missense_Mutation_p.E227Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E151Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E139Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E227Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	227										large_intestine(1)|ovary(1)	2						CTGTGTAAGTGAGACTGAATT	0.413		NaN											0	0	0	0.016522	0	22	41				
ALS2CR8	79800	broad.mit.edu	37	2	203826043	203826043	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:203826043G>A	uc002uzo.2	+	8	1006	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	ALS2CR8_uc002uzn.2_Silent_p.Q140Q|ALS2CR8_uc002uzm.2_Silent_p.Q242Q|ALS2CR8_uc010zhy.1_Intron|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Silent_p.Q166Q|ALS2CR8_uc010zib.1_Silent_p.Q166Q|ALS2CR8_uc010zic.1_Silent_p.Q154Q|ALS2CR8_uc002uzp.2_Silent_p.Q242Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	242										large_intestine(1)|ovary(1)	2						AGCAAACACAGAGTGTTTGGG	0.448		NaN											0	0	0	0.010504	0	20	41				
NDUFS1	4719	broad.mit.edu	37	2	207009731	207009731	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:207009731C>T	uc002vbe.2	-	9	884	c.757G>A	c.(757-759)GTA>ATA	p.V253I	NDUFS1_uc010ziq.1_Missense_Mutation_p.V267I|NDUFS1_uc010zir.1_Missense_Mutation_p.V217I|NDUFS1_uc010zis.1_Missense_Mutation_p.V196I|NDUFS1_uc010zit.1_Missense_Mutation_p.V142I|NDUFS1_uc010ziu.1_Missense_Mutation_p.V137I	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	253					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GCATCCATTACATCAATGGAT	0.378		NaN											0	0	0	0.020292	0	14	73				
AAMP	14	broad.mit.edu	37	2	219129789	219129789	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219129789C>G	uc002vhk.2	-	10	1267	c.1183G>C	c.(1183-1185)GAC>CAC	p.D395H	AAMP_uc002vhj.2_Missense_Mutation_p.D376H|AAMP_uc010fvo.2_Missense_Mutation_p.D395H|AAMP_uc002vhl.2_Missense_Mutation_p.D396H	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	395	WD 7.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGTAGTCAGTAAGCAGG	0.607		NaN											0	0	0	0.010818	0	33	156				
PNKD	25953	broad.mit.edu	37	2	219209680	219209680	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219209680G>A	uc002vhn.2	+	10	1278	c.1134G>A	c.(1132-1134)CTG>CTA	p.L378L	PNKD_uc002vhq.2_Silent_p.L354L	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	378	Substrate (By similarity).					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGCCGGCTGAAGGATATGC	0.682		NaN											0	0	0	0.020292	0	14	42				
STK36	27148	broad.mit.edu	37	2	219544683	219544683	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219544683C>A	uc002viu.2	+	9	1282	c.1016C>A	c.(1015-1017)GCC>GAC	p.A339D	STK36_uc002viv.2_Missense_Mutation_p.A339D	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	339					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTGGCACAGCCCCTCTGCCC	0.577		NaN											1	0	3.99206e-14	0.007413	4.2957e-14	20	103				
CYP27A1	1593	broad.mit.edu	37	2	219679343	219679343	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:219679343C>T	uc002viz.3	+	8	1773	c.1339C>T	c.(1339-1341)CAC>TAC	p.H447Y		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	447					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTTCCAGCCCCACCGCTGGCT	0.607		NaN											0	0	0	0.010729	0	10	65				
SCG2	7857	broad.mit.edu	37	2	224463499	224463499	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:224463499G>A	uc002vnm.2	-	2	635	c.502C>T	c.(502-504)CCT>TCT	p.P168S		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	168					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCATACATAGGAGGGAATTGC	0.403		NaN											0	0	0	0.017118	0	36	165				
TRIP12	9320	broad.mit.edu	37	2	230656630	230656630	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:230656630C>A	uc002vpw.1	-	28	4251	c.4142G>T	c.(4141-4143)AGC>ATC	p.S1381I	TRIP12_uc002vpx.1_Missense_Mutation_p.S1429I|TRIP12_uc002vpy.1_Missense_Mutation_p.S1111I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGAGGATTGCTCTCATCATC	0.383		NaN											1	0	6.21074e-16	0.011902	6.75875e-16	39	218				
NCL	4691	broad.mit.edu	37	2	232326368	232326368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:232326368C>T	uc002vru.2	-	3	637	c.496G>A	c.(496-498)GAT>AAT	p.D166N	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	166	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcatcttcatcctcatcctcg	0.239		NaN											0	0	0	0.007413	0	20	24				
IQCA1	79781	broad.mit.edu	37	2	237396819	237396819	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:237396819T>C	uc002vvz.1	-	4	654	c.472A>G	c.(472-474)AGT>GGT	p.S158G	IQCA1_uc002vwb.2_Missense_Mutation_p.S165G|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.S158G	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	158							ATP binding			ovary(1)	1						AAAGGGATACTCTTTACAGGG	0.398		NaN											0	0	0	0.014758	0	5	20				
RBM44	375316	broad.mit.edu	37	2	238726129	238726129	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:238726129C>T	uc002vxi.3	+	3	702	c.570C>T	c.(568-570)CAC>CAT	p.H190H		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	189							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGGAATATCACAGTGCAGAAG	0.333		NaN											0	0	0	0.004482	0	8	26				
PER2	8864	broad.mit.edu	37	2	239167208	239167208	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:239167208C>T	uc002vyc.2	-	15	1942	c.1705G>A	c.(1705-1707)GAG>AAG	p.E569K	PER2_uc010znv.1_Missense_Mutation_p.E569K	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	569	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCAACTCCTCGGGGAAGCTG	0.552		NaN											0	0	0	0.008291	0	11	47				
TGM3	7053	broad.mit.edu	37	20	2320505	2320505	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:2320505G>A	uc002wfx.3	+	12	1903	c.1806G>A	c.(1804-1806)CTG>CTA	p.L602L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	602					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CATAGGTGCTGAACGAGGCTC	0.637		NaN											0	0	0	0.00308	0	6	17				
FAM113A	64773	broad.mit.edu	37	20	2819730	2819730	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:2819730T>C	uc002wgz.1	-	4	702	c.205_splice	c.e4-1	p.G69_splice	FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_Splice_Site|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Intron|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773								hydrolase activity|protein binding			ovary(2)	2						CAGCTCCCCCTACCCACCCCC	0.652		NaN											0	0	0	0.009096	0	3	19				
TRMT6	51605	broad.mit.edu	37	20	5923084	5923084	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:5923084T>C	uc002wmh.1	-	7	1138	c.1016A>G	c.(1015-1017)AAA>AGA	p.K339R	TRMT6_uc010zra.1_Missense_Mutation_p.K169R|TRMT6_uc010gbn.1_Missense_Mutation_p.K169R|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	339					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						ATAATCTTTTTTGCTTCCTCT	0.453		NaN											0	0	0	0.01441	0	78	50				
RRBP1	6238	broad.mit.edu	37	20	17599273	17599273	+	Missense_Mutation	SNP	C	C	T	rs149077359		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:17599273C>T	uc002wpv.1	-	21	2782	c.2428G>A	c.(2428-2430)GAA>AAA	p.E810K	RRBP1_uc010zrp.1_5'UTR|RRBP1_uc002wpt.1_Missense_Mutation_p.E180K|RRBP1_uc002wpu.2_Missense_Mutation_p.E584K|RRBP1_uc002wpw.1_Missense_Mutation_p.E810K|RRBP1_uc010gcl.1_Missense_Mutation_p.E584K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1243	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TTCTGGGCTTCGCTCTTGGCG	0.552		NaN											0	0	0	0.016522	0	22	50				
SLC24A3	57419	broad.mit.edu	37	20	19566112	19566112	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:19566112G>C	uc002wrl.2	+	6	733	c.536G>C	c.(535-537)GGA>GCA	p.G179A		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	179	Extracellular (Potential).|Alpha-1.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GGCGATGTGGGAGTTGGCACC	0.547		NaN											0	0	0	0.011902	0	42	154				
C20orf185	359710	broad.mit.edu	37	20	31654681	31654681	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:31654681G>A	uc002wym.1	+	9	976	c.976G>A	c.(976-978)GAG>AAG	p.E326K		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	326					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						TTTGCTCCCTGAGGTGAGTGA	0.358		NaN											0	0	0	0.008361	0	29	93				
TOP1	7150	broad.mit.edu	37	20	39741425	39741425	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:39741425G>A	uc002xjl.2	+	14	1558	c.1312G>A	c.(1312-1314)GAG>AAG	p.E438K	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	438					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TTTACAGGGTGAGAAGGACTG	0.373		NaN	T	NUP98	AML*								0	0	0	0.00308	0	8	53				
NCOA5	57727	broad.mit.edu	37	20	44692158	44692158	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:44692158C>T	uc002xrd.2	-	6	1519	c.991G>A	c.(991-993)GAG>AAG	p.E331K	NCOA5_uc002xrc.2_Missense_Mutation_p.E219K|NCOA5_uc002xre.2_Missense_Mutation_p.E331K	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				ACTCCCTCCTCAGGGCCTCCT	0.577		NaN											0	0	0	0.001984	0	7	63				
ZNFX1	57169	broad.mit.edu	37	20	47887564	47887564	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:47887564G>C	uc002xui.2	-	3	1032	c.785C>G	c.(784-786)TCT>TGT	p.S262C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	262							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCCTGCACAGAGCTGGCAGG	0.507		NaN											0	0	0	0.021523	0	26	107				
ZNF831	128611	broad.mit.edu	37	20	57828035	57828035	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57828035C>G	uc002yan.2	+	4	4030	c.4030C>G	c.(4030-4032)CTG>GTG	p.L1344V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1344						intracellular	nucleic acid binding|zinc ion binding	p.L1344L(1)		skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCTTGCAGGTCTGAATCTGCA	0.458		NaN											0	0	0	0.01892	0	25	57				
ZNF831	128611	broad.mit.edu	37	20	57829687	57829687	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:57829687C>T	uc002yan.2	+	5	4923	c.4923C>T	c.(4921-4923)GCC>GCT	p.A1641A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1641						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TTCCTGAAGCCCCTTCTAAAT	0.463		NaN											0	0	0	0.01441	0	48	88				
LSM14B	149986	broad.mit.edu	37	20	60704841	60704841	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60704841G>A	uc010gjy.1	+	4	634	c.428G>A	c.(427-429)GGA>GAA	p.G143E	LSM14B_uc010gjx.1_Missense_Mutation_p.G169E|LSM14B_uc002ybv.2_Missense_Mutation_p.G143E|LSM14B_uc010gjz.1_Missense_Mutation_p.G99E|LSM14B_uc010zzz.1_Missense_Mutation_p.G63E	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	143					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCAATTCAGGAGCTGGTTTT	0.498		NaN											0	0	0	0.014758	0	5	6				
LAMA5	3911	broad.mit.edu	37	20	60908513	60908513	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr20:60908513C>T	uc002ycq.2	-	25	3113	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1016	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGTAGTATGCGCTAGGCAGC	0.682		NaN											0	0	0	0.014758	0	5	29				
TIAM1	7074	broad.mit.edu	37	21	32559388	32559388	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:32559388G>A	uc002yow.1	-	15	3063	c.2591C>T	c.(2590-2592)TCT>TTT	p.S864F	TIAM1_uc011adk.1_Missense_Mutation_p.S864F|TIAM1_uc011adl.1_Missense_Mutation_p.S804F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	864	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTCTTCCACAGAAGAAAGTGA	0.458		NaN											0	0	0	0.01441	0	44	334				
HUNK	30811	broad.mit.edu	37	21	33296930	33296930	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:33296930C>T	uc002yph.2	+	2	772	c.412C>T	c.(412-414)CTG>TTG	p.L138L		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	138	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGCTACTACCTGGTCATGGA	0.532		NaN											0	0	0	0.011902	0	42	150				
MORC3	23515	broad.mit.edu	37	21	37741729	37741729	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:37741729C>T	uc002yvi.2	+	15	2139	c.2063C>T	c.(2062-2064)TCT>TTT	p.S688F		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	688	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						ACCGATAAATCTGCAGATGAT	0.413		NaN											0	0	0	0.01441	0	48	37				
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:38461129G>T	uc002yvz.2	+	5	474	c.369G>T	c.(367-369)AAG>AAT	p.K123N	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.K123N|TTC3_uc002ywb.2_Missense_Mutation_p.K123N|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.K123N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323		NaN											1	0	3.45872e-05	0.004007	3.53215e-05	15	62				
RIPK4	54101	broad.mit.edu	37	21	43161677	43161677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:43161677C>T	uc002yzn.1	-	8	1724	c.1676G>A	c.(1675-1677)CGA>CAA	p.R559Q		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						GTCCACGCCTCGGCGCAGCAG	0.662		NaN											0	0	0	0.006214	0	10	95				
TRPM2	7226	broad.mit.edu	37	21	45837924	45837924	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837924C>T	uc002zet.1	+	22	3474	c.3261C>T	c.(3259-3261)CTC>CTT	p.L1087L	TRPM2_uc002zeu.1_Silent_p.L1087L|TRPM2_uc002zew.1_Silent_p.L1087L|TRPM2_uc010gpt.1_Silent_p.L1087L|TRPM2_uc002zex.1_Silent_p.L873L|TRPM2_uc002zey.1_Silent_p.L600L|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1087	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCATCCTCCTCAGCCACCTGC	0.502		NaN											0	0	0	0.01892	0	22	234				
TRPM2	7226	broad.mit.edu	37	21	45837945	45837945	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:45837945C>G	uc002zet.1	+	22	3495	c.3282C>G	c.(3280-3282)ATC>ATG	p.I1094M	TRPM2_uc002zeu.1_Missense_Mutation_p.I1094M|TRPM2_uc002zew.1_Missense_Mutation_p.I1094M|TRPM2_uc010gpt.1_Missense_Mutation_p.I1094M|TRPM2_uc002zex.1_Missense_Mutation_p.I880M|TRPM2_uc002zey.1_Missense_Mutation_p.I607M|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1094	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCTCTTCATCAAGAGGGTGG	0.512		NaN											0	0	0	0.024334	0	23	226				
COL18A1	80781	broad.mit.edu	37	21	46911162	46911162	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr21:46911162C>T	uc011afs.1	+	21	3357	c.3336C>T	c.(3334-3336)GTC>GTT	p.V1112V	COL18A1_uc002zhg.2_Silent_p.V697V|COL18A1_uc002zhi.2_Silent_p.V877V	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1112	Triple-helical region 4 (COL4).			V -> L (in Ref. 5; AAA51864).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGACGGAGTCGGGCAGCCGG	0.682		NaN											0	0	0	0.001984	0	5	87				
CHEK2	11200	broad.mit.edu	37	22	29091828	29091828	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29091828C>T	uc003adu.1	-	11	1201	c.1129G>A	c.(1129-1131)GAG>AAG	p.E377K	CHEK2_uc003ads.1_Missense_Mutation_p.E156K|CHEK2_uc010gvh.1_Missense_Mutation_p.E286K|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.E420K|CHEK2_uc003adv.1_Missense_Mutation_p.E348K|CHEK2_uc003adw.1_Missense_Mutation_p.E377K|CHEK2_uc003adx.1_Missense_Mutation_p.E156K|CHEK2_uc003ady.1_Missense_Mutation_p.E377K|CHEK2_uc003adz.1_Missense_Mutation_p.E181K	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	377	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						AGAGAGGTCTCTCCCAAAATC	0.423		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.016522	0	22	74				
CHEK2	11200	broad.mit.edu	37	22	29092917	29092917	+	Nonsense_Mutation	SNP	G	G	T	rs121908703		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092917G>T	uc003adu.1	-	10	1139	c.1067C>A	c.(1066-1068)TCA>TAA	p.S356*	CHEK2_uc003ads.1_Nonsense_Mutation_p.S135*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.S265*|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Nonsense_Mutation_p.S399*|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adx.1_Nonsense_Mutation_p.S135*|CHEK2_uc003ady.1_Nonsense_Mutation_p.S356*|CHEK2_uc003adz.1_Nonsense_Mutation_p.S160*	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	356	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TTCTTGAGATGACAGTAAAAC	0.378		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				1	0	1.36491e-13	0.016723	1.46545e-13	14	38				
CHEK2	11200	broad.mit.edu	37	22	29092969	29092969	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29092969G>A	uc003adu.1	-	10	1087	c.1015C>T	c.(1015-1017)CAT>TAT	p.H339Y	CHEK2_uc003ads.1_Missense_Mutation_p.H118Y|CHEK2_uc010gvh.1_Missense_Mutation_p.H248Y|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.H382Y|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Missense_Mutation_p.H339Y|CHEK2_uc003adx.1_Missense_Mutation_p.H118Y|CHEK2_uc003ady.1_Missense_Mutation_p.H339Y|CHEK2_uc003adz.1_Missense_Mutation_p.H143Y	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	339	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCGTTTTCATGAAGGTACTAC	0.398		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.024245	0	12	33				
THOC5	8563	broad.mit.edu	37	22	29940524	29940524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:29940524G>C	uc003afr.2	-	4	500	c.165C>G	c.(163-165)TAC>TAG	p.Y55*	THOC5_uc003afs.2_Nonsense_Mutation_p.Y55*|THOC5_uc003aft.2_Nonsense_Mutation_p.Y55*|THOC5_uc003afu.2_Nonsense_Mutation_p.Y55*|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Nonsense_Mutation_p.Y55*|THOC5_uc003afw.1_5'Flank	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	55	Interaction with THOC7.|Interaction with CSF1R (By similarity).				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						AGGTGTACTTGTATAACTCAT	0.542		NaN											0	0	0	0.027356	0	29	113				
GAL3ST1	9514	broad.mit.edu	37	22	30951254	30951254	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:30951254C>G	uc003aig.1	-	4	1098	c.958G>C	c.(958-960)GAG>CAG	p.E320Q	GAL3ST1_uc003aih.1_Missense_Mutation_p.E320Q|GAL3ST1_uc003aii.1_Missense_Mutation_p.E320Q|GAL3ST1_uc010gvz.1_Missense_Mutation_p.E320Q	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	320	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CCGAAGGCCTCCACCTTGCGC	0.711		NaN											0	0	0	0.00308	0	8	13				
MYH9	4627	broad.mit.edu	37	22	36695011	36695011	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:36695011G>A	uc003apg.2	-	24	3285	c.3054C>T	c.(3052-3054)CTC>CTT	p.L1018L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1018	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGAGCTTGGCGAGGCTCTTAG	0.562		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.012319	0	22	57				
MFNG	4242	broad.mit.edu	37	22	37868558	37868558	+	Silent	SNP	G	G	A	rs11548403		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr22:37868558G>A	uc003ass.1	-	7	992	c.822C>T	c.(820-822)CTC>CTT	p.L274L	MFNG_uc011ani.1_Silent_p.L152L|MFNG_uc011anj.1_Silent_p.L260L|MFNG_uc003asr.1_RNA	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	274	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			lung(1)	1	Melanoma(58;0.0574)					CACCGTAGCTGAGGGTGACCT	0.602		NaN									OREG0026538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	29	119				
KCNH8	131096	broad.mit.edu	37	3	19479720	19479720	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:19479720C>T	uc003cbk.1	+	8	1437	c.1242C>T	c.(1240-1242)GGC>GGT	p.G414G	KCNH8_uc011awe.1_Silent_p.G414G|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.G45G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	414	Extracellular (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCTTGGGGGGCCCGTCGATCC	0.488		NaN											0	0	0	0.01441	0	55	486				
GPD1L	23171	broad.mit.edu	37	3	32188164	32188164	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:32188164C>G	uc003cew.2	+	5	616	c.556C>G	c.(556-558)CCA>GCA	p.P186A		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	186					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						TCTGCAGACTCCAAATTTTCG	0.433		NaN											0	0	0	0.01441	0	99	306				
SCN5A	6331	broad.mit.edu	37	3	38601887	38601887	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38601887C>T	uc003cio.2	-	23	4190	c.3996G>A	c.(3994-3996)CCG>CCA	p.P1332P	SCN5A_uc003cin.2_Silent_p.P1331P|SCN5A_uc003cil.3_Silent_p.P1332P|SCN5A_uc010hhi.2_Silent_p.P1332P|SCN5A_uc010hhk.2_Silent_p.P1331P|SCN5A_uc011ayr.1_Silent_p.P1278P|SCN5A_uc010hhj.1_Silent_p.P942P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCATGATGGACGGGATGGCGC	0.582		NaN											0	0	0	0.012319	0	17	44				
SCN5A	6331	broad.mit.edu	37	3	38616877	38616877	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:38616877G>A	uc003cio.2	-	20	3771	c.3577C>T	c.(3577-3579)CGG>TGG	p.R1193W	SCN5A_uc003cin.2_Missense_Mutation_p.R1192W|SCN5A_uc003cil.3_Missense_Mutation_p.R1193W|SCN5A_uc010hhi.2_Missense_Mutation_p.R1193W|SCN5A_uc010hhk.2_Missense_Mutation_p.R1192W|SCN5A_uc011ayr.1_Missense_Mutation_p.R1139W|SCN5A_uc010hhj.1_Missense_Mutation_p.R803W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1193					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R1193W(1)		ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGCGCAACCGCCACCAGACC	0.612		NaN											0	0	0	0.001984	0	7	7				
ZBTB47	92999	broad.mit.edu	37	3	42702987	42702987	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:42702987G>A	uc003clu.1	+	2	458	c.356G>A	c.(355-357)TGT>TAT	p.C119Y		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	119	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TGTGTGACATGTGGCAAAGCT	0.413		NaN											0	0	0	0.021022	0	31	49				
DHX30	22907	broad.mit.edu	37	3	47887699	47887699	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47887699G>C	uc003cru.2	+	11	1563	c.1137G>C	c.(1135-1137)CAG>CAC	p.Q379H	DHX30_uc003crt.2_Missense_Mutation_p.Q340H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	379						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGGCTGCAGAGTGATGACA	0.542		NaN											0	0	0	0.01441	0	63	122				
MAP4	4134	broad.mit.edu	37	3	47956392	47956392	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:47956392C>G	uc003csb.2	-	8	2440	c.1914G>C	c.(1912-1914)CCG>CCC	p.P638P	MAP4_uc003csc.3_Silent_p.P638P|MAP4_uc011bbf.1_Silent_p.P615P|MAP4_uc003csf.3_Silent_p.P655P	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	638					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTCCTCGGCCGGCAAGCTGC	0.443		NaN											0	0	0	0.01441	0	71	135				
RNF123	63891	broad.mit.edu	37	3	49742439	49742439	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:49742439T>C	uc003cxh.2	+	23	2068	c.1982T>C	c.(1981-1983)GTT>GCT	p.V661A	RNF123_uc010hky.1_Missense_Mutation_p.V323A|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	661						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCCTGGCTGTTGGGGGGCCA	0.677		NaN											0	0	0	0.004482	0	7	5				
BAP1	8314	broad.mit.edu	37	3	52436887	52436887	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52436887C>G	uc003ddx.2	-	15	2006	c.1891G>C	c.(1891-1893)GAG>CAG	p.E631Q	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	631	Potential.|Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E631_A634del(1)|p.E631fs*3(1)		pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCAGCAGCTCCTGCCAAAAC	0.567		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.006122	0	18	84				
SFMBT1	51460	broad.mit.edu	37	3	52939153	52939153	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:52939153C>G	uc003dgf.2	-	22	3169	c.2600G>C	c.(2599-2601)TGA>TCA	p.*867S	SFMBT1_uc010hmr.2_Nonstop_Mutation_p.*771S|SFMBT1_uc003dgg.2_Nonstop_Mutation_p.*867S|SFMBT1_uc003dgh.2_Nonstop_Mutation_p.*867S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	867					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTGTCCTTCTCAGTTGGCAAA	0.453		NaN											0	0	0	0.01441	0	59	39				
EPHA6	285220	broad.mit.edu	37	3	96706766	96706766	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:96706766G>A	uc010how.1	+	3	1086	c.1043G>A	c.(1042-1044)GGA>GAA	p.G348E	EPHA6_uc003drp.1_Missense_Mutation_p.G348E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	253	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GGAGCTGATGGAGATTGGCTG	0.428		NaN											0	0	0	0.01441	0	75	69				
MORC1	27136	broad.mit.edu	37	3	108782032	108782032	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:108782032C>T	uc003dxl.2	-	10	949	c.862G>A	c.(862-864)GAA>AAA	p.E288K	MORC1_uc011bhn.1_Missense_Mutation_p.E288K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	288	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTTTTAACTTCATCTTTAAAT	0.254		NaN											0	0	0	0.007413	0	16	109				
GSK3B	2932	broad.mit.edu	37	3	119562103	119562103	+	Silent	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:119562103T>A	uc003edo.2	-	10	2177	c.1194A>T	c.(1192-1194)TCA>TCT	p.S398S	GSK3B_uc003edn.2_Silent_p.S411S|GSK3B_uc003edm.2_Intron	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	398					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CGTTCTTACCTGACGCTGCTG	0.318		NaN											0	0	0	0.008361	0	29	63				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.007413	0	7	20				
EEFSEC	60678	broad.mit.edu	37	3	127981020	127981020	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:127981020G>A	uc003eki.2	+	3	612	c.574G>A	c.(574-576)GAG>AAG	p.E192K	EEFSEC_uc003ekj.2_Missense_Mutation_p.E192K	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	192						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						GGGGGGACCAGAGGCCCCCGA	0.557		NaN											0	0	0	0.012319	0	20	162				
H1FX	8971	broad.mit.edu	37	3	129034635	129034635	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:129034635C>G	uc003elx.2	-	1	486	c.111G>C	c.(109-111)AAG>AAC	p.K37N	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	37					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCTTGCTATTCTTCCTCTTCT	0.622		NaN											0	0	0	0.004672	0	3	9				
ARMC8	25852	broad.mit.edu	37	3	137964026	137964026	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:137964026G>A	uc003esa.1	+	13	1459	c.1092_splice	c.e13+1	p.K364_splice	ARMC8_uc003erw.2_Missense_Mutation_p.V365M|ARMC8_uc003erx.2_Missense_Mutation_p.V365M|ARMC8_uc003ery.2_Missense_Mutation_p.V337M|ARMC8_uc003erz.2_Missense_Mutation_p.V337M|ARMC8_uc011bmf.1_Splice_Site_p.K347_splice|ARMC8_uc011bmg.1_Splice_Site_p.K311_splice|ARMC8_uc011bmh.1_Splice_Site_p.K305_splice|ARMC8_uc003esb.1_Splice_Site_p.K336_splice|ARMC8_uc003esc.1_Splice_Site_p.K136_splice	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2								binding				0						CCGGAAGAAGGTGAGTCTGGG	0.517		NaN											0	0	0	0.021523	0	23	74				
MED12L	116931	broad.mit.edu	37	3	151112625	151112625	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:151112625C>T	uc003eyp.2	+	37	5723	c.5685C>T	c.(5683-5685)CTC>CTT	p.L1895L	MED12L_uc011bnz.1_Silent_p.L1755L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1895	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCGACTTCTCAGGCAAGCCC	0.522		NaN											0	0	0	0.01441	0	50	62				
SMC4	10051	broad.mit.edu	37	3	160141236	160141236	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:160141236G>A	uc003fdh.2	+	14	2156	c.2043G>A	c.(2041-2043)ATG>ATA	p.M681I	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M445I|SMC4_uc003fdi.2_Missense_Mutation_p.M656I|SMC4_uc003fdj.2_Missense_Mutation_p.M681I|SMC4_uc010hwd.2_Missense_Mutation_p.M681I|SMC4_uc003fdl.2_Missense_Mutation_p.M384I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	681	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGAAAAAGATGACCGAAATTC	0.269		NaN											0	0	0	0.01441	0	73	116				
MUC4	4585	broad.mit.edu	37	3	195518308	195518308	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:195518308C>G	uc011bto.1	-	2	603	c.143G>C	c.(142-144)GGC>GCC	p.G48A	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_5'Flank	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	48					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTTGTTGAGCCTGTTGAGGT	0.403		NaN											0	0	0	0.01441	0	49	258				
SENP5	205564	broad.mit.edu	37	3	196613274	196613274	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr3:196613274G>A	uc003fwz.3	+	2	1471	c.1222G>A	c.(1222-1224)GAT>AAT	p.D408N	SENP5_uc011bty.1_Missense_Mutation_p.D408N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	408					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTGTCAGTGATGACAGAGT	0.423		NaN											0	0	0	0.00632	0	27	107				
WHSC1	7468	broad.mit.edu	37	4	1902964	1902964	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:1902964C>G	uc003gdz.3	+	2	759	c.583C>G	c.(583-585)CCT>GCT	p.P195A	WHSC1_uc003geb.3_Missense_Mutation_p.P195A|WHSC1_uc003gec.3_Missense_Mutation_p.P195A|WHSC1_uc003ged.3_Missense_Mutation_p.P195A|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P195A|WHSC1_uc003gdy.1_Missense_Mutation_p.P195A|WHSC1_uc010icd.1_Missense_Mutation_p.P195A|WHSC1_uc003gea.1_Missense_Mutation_p.P195A|WHSC1_uc010ice.1_Missense_Mutation_p.P195A|WHSC1_uc003geg.1_Missense_Mutation_p.P195A|WHSC1_uc003geh.1_Missense_Mutation_p.P195A	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	195					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GATCTCAAGTCCTTCAGATAA	0.493		NaN	T	IGH@	MM								0	0	0	0.006214	0	8	62				
MXD4	10608	broad.mit.edu	37	4	2254191	2254191	+	Missense_Mutation	SNP	C	C	T	rs141784187	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:2254191C>T	uc003geu.1	-	4	285	c.253G>A	c.(253-255)GAC>AAC	p.D85N		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	85	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						CGGGTGCTGTCGGGGCCCAGG	0.632		NaN											0	0	0	0.006214	0	9	40				
HTT	3064	broad.mit.edu	37	4	3237489	3237489	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:3237489C>T	uc011bvq.1	+	64	8920	c.8775C>T	c.(8773-8775)CTC>CTT	p.L2925L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2923					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTGATGCTCACCTGCATGT	0.607		NaN											0	0	0	0.001984	0	7	22				
D4S234E	27065	broad.mit.edu	37	4	4419001	4419001	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:4419001G>A	uc011bvz.1	+	8	1678	c.397G>A	c.(397-399)GCG>ACG	p.A133T	D4S234E_uc011bwa.1_Missense_Mutation_p.A94T|D4S234E_uc003ghz.2_Missense_Mutation_p.A133T|D4S234E_uc003gia.2_Missense_Mutation_p.A133T|D4S234E_uc003gib.2_Missense_Mutation_p.A133T	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	133	Lumenal (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GAGCTACTACGCGGAGCAAGA	0.567		NaN											0	0	0	0.007413	0	20	108				
TBC1D1	23216	broad.mit.edu	37	4	37903928	37903928	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:37903928C>T	uc003gtb.2	+	2	555	c.212C>T	c.(211-213)TCT>TTT	p.S71F	TBC1D1_uc011byd.1_Missense_Mutation_p.S71F|TBC1D1_uc010ifd.2_Missense_Mutation_p.S71F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	71						nucleus	Rab GTPase activator activity			ovary(1)	1						GTTTCACCCTCTGGACTGAGA	0.547		NaN											0	0	0	0.01892	0	24	128				
N4BP2	55728	broad.mit.edu	37	4	40123292	40123292	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:40123292C>T	uc003guy.3	+	9	3899	c.3561C>T	c.(3559-3561)AAC>AAT	p.N1187N	N4BP2_uc010ifq.2_Silent_p.N1107N|N4BP2_uc010ifr.2_Silent_p.N1107N	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1187						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GTATTAGTAACGCTGACTCAC	0.413		NaN											0	0	0	0.01441	0	61	101				
TMPRSS11B	132724	broad.mit.edu	37	4	69101948	69101948	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:69101948G>A	uc003hdw.3	-	3	297	c.161C>T	c.(160-162)TCT>TTT	p.S54F		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	54	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TGTGACTCCAGAAATATGAAA	0.303		NaN											0	0	0	0.001984	0	6	27				
DCK	1633	broad.mit.edu	37	4	71888182	71888182	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:71888182C>T	uc003hfx.2	+	3	594	c.306C>T	c.(304-306)CTC>CTT	p.L102L	DCK_uc011cbb.1_Silent_p.L30L	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	102					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	ATGCCTGTCTCAGTCGAATAA	0.403		NaN											0	0	0	0.016522	0	24	102				
WDFY3	23001	broad.mit.edu	37	4	85742700	85742700	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:85742700G>A	uc003hpd.2	-	11	1536	c.1128C>T	c.(1126-1128)CAC>CAT	p.H376H	WDFY3_uc003hpf.2_Silent_p.H376H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	376						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.H376Y(1)		ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTCACACTGTGACCTAGAA	0.338		NaN											0	0	0	0.01892	0	24	101				
IBSP	3381	broad.mit.edu	37	4	88732815	88732815	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:88732815A>C	uc003hqx.3	+	7	805	c.707A>C	c.(706-708)GAA>GCA	p.E236A		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	236					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGTGGGTTTGAACCTACAACC	0.527		NaN											0	0	0	0.006214	0	9	41				
ADH6	130	broad.mit.edu	37	4	100130048	100130048	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:100130048C>G	uc003hup.3	-	6	699	c.605G>C	c.(604-606)GGA>GCA	p.G202A	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.G202A|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.G202A	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	202	NAD (By similarity).				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GCCGACTCCTCCCAGGCCAAA	0.458		NaN											0	0	0	0.01441	0	53	253				
TET2	54790	broad.mit.edu	37	4	106155204	106155204	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:106155204G>A	uc003hxk.2	+	3	491	c.105G>A	c.(103-105)CAG>CAA	p.Q35Q	TET2_uc011cez.1_Silent_p.Q56Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q35Q|TET2_uc003hxi.1_Silent_p.Q35Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	35					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAAGCTCCAGAATGGAAGCC	0.463		NaN	Mis N|F		MDS								0	0	0	0.020292	0	15	43				
TIGD4	201798	broad.mit.edu	37	4	153690793	153690793	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:153690793T>C	uc003imy.2	-	2	2146	c.1364A>G	c.(1363-1365)GAT>GGT	p.D455G		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	455					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					ATCCTCTTCATCAGAAGTGTA	0.398		NaN											0	0	0	0.007413	0	19	52				
WDR17	116966	broad.mit.edu	37	4	177058703	177058703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:177058703C>T	uc003iuj.2	+	10	1528	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	WDR17_uc003iuk.2_Nonsense_Mutation_p.R434*|WDR17_uc003ium.3_Nonsense_Mutation_p.R434*|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	458	WD 7.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGAACTTCCCGAAATGGTGC	0.274		NaN											0	0	0	0.006122	0	13	42				
NEIL3	55247	broad.mit.edu	37	4	178256885	178256885	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:178256885G>C	uc003iut.2	+	3	439	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	NEIL3_uc010irs.2_Missense_Mutation_p.E11Q	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	108					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAATCCACTTGAGTATAAATA	0.328		NaN						BER_DNA_glycosylases					0	0	0	0.00632	0	28	51				
ODZ3	55714	broad.mit.edu	37	4	183603124	183603124	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr4:183603124C>T	uc003ivd.1	+	10	2029	c.1992C>T	c.(1990-1992)TCC>TCT	p.S664S	ODZ3_uc003ive.1_Silent_p.S70S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	664	EGF-like 5.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAAGTGGCTCCTGCACGTGTG	0.488		NaN											0	0	0	0.007413	0	18	49				
DNAH5	1767	broad.mit.edu	37	5	13885116	13885116	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:13885116G>A	uc003jfd.2	-	19	3007	c.2965C>T	c.(2965-2967)CAC>TAC	p.H989Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	989	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTAATTGTGTGAGAGGAATGA	0.368		NaN							Kartagener_syndrome				0	0	0	0.008361	0	31	132				
NPR3	4883	broad.mit.edu	37	5	32712404	32712404	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:32712404C>G	uc003jhv.2	+	1	740	c.522C>G	c.(520-522)CTC>CTG	p.L174L	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L174L	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	174	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	ACTCGCACCTCACGCGCGTGG	0.682		NaN											0	0	0	0.008291	0	10	112				
IL7R	3575	broad.mit.edu	37	5	35867471	35867471	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:35867471G>C	uc003jjs.2	+	3	374	c.285G>C	c.(283-285)GAG>GAC	p.E95D	IL7R_uc011coo.1_Missense_Mutation_p.E95D|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	95	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTTCATCGAGACAAAGAAAT	0.383		NaN											0	0	0	0.024334	0	26	216				
OXCT1	5019	broad.mit.edu	37	5	41840601	41840601	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:41840601C>T	uc003jmn.2	-	7	1015	c.684G>A	c.(682-684)AGG>AGA	p.R228R		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	228					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	AGTTGAAATTCCTTGCACTTT	0.373		NaN											0	0	0	0.025465	0	34	177				
CENPK	64105	broad.mit.edu	37	5	64814433	64814433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:64814433G>A	uc003jts.2	-	11	891	c.679C>T	c.(679-681)CCA>TCA	p.P227S	CENPK_uc003jtt.2_Missense_Mutation_p.P197S|CENPK_uc003jtu.2_Missense_Mutation_p.P227S	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	227					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GGATCATGTGGAACATCAAAT	0.333		NaN											0	0	0	0.016723	0	13	57				
ERBB2IP	55914	broad.mit.edu	37	5	65349677	65349677	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349677C>T	uc003juk.1	+	21	2839	c.2531C>T	c.(2530-2532)TCT>TTT	p.S844F	ERBB2IP_uc003jui.1_Missense_Mutation_p.S844F|ERBB2IP_uc003juj.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqx.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S844F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S840F|ERBB2IP_uc003jul.1_Missense_Mutation_p.S840F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	844					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGTGATTGTTCTGTTGACTTA	0.393		NaN											0	0	0	0.020292	0	15	36				
ERBB2IP	55914	broad.mit.edu	37	5	65349994	65349994	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349994C>G	uc003juk.1	+	21	3156	c.2848C>G	c.(2848-2850)CAT>GAT	p.H950D	ERBB2IP_uc003jui.1_Missense_Mutation_p.H950D|ERBB2IP_uc003juj.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqx.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqy.1_Missense_Mutation_p.H950D|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.H946D|ERBB2IP_uc003jul.1_Missense_Mutation_p.H946D	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	950					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATTCAAATCATAATCCCGA	0.383		NaN											0	0	0	0.020292	0	13	63				
HSD17B4	3295	broad.mit.edu	37	5	118788291	118788291	+	Missense_Mutation	SNP	C	C	G	rs143278360		TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:118788291C>G	uc003ksj.2	+	1	144	c.21C>G	c.(19-21)TTC>TTG	p.F7L	HSD17B4_uc011cwg.1_5'UTR|HSD17B4_uc011cwh.1_Missense_Mutation_p.F7L|HSD17B4_uc011cwi.1_5'UTR|HSD17B4_uc003ksk.3_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	7	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CGCTGAGGTTCGACGGGCGGG	0.667		NaN											0	0	0	0.006122	0	15	42				
PCDHA7	56141	broad.mit.edu	37	5	140215764	140215764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:140215764C>T	uc003lhq.2	+	1	1796	c.1796C>T	c.(1795-1797)GCT>GTT	p.A599V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A599V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	599	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTTGACGCTGACTCAGGC	0.657		NaN											0	0	0	0.010504	0	21	79				
DCTN4	51164	broad.mit.edu	37	5	150097924	150097924	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:150097924G>C	uc003lsv.2	-	11	1087	c.985C>G	c.(985-987)CTT>GTT	p.L329V	DCTN4_uc003lsu.2_Missense_Mutation_p.L272V|DCTN4_uc010jhi.2_Missense_Mutation_p.L336V	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	329						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATTTGTAAGAGTCAGGAGG	0.468		NaN											0	0	0	0.027356	0	26	19				
ODZ2	57451	broad.mit.edu	37	5	167517748	167517748	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167517748T>A	uc010jjd.2	+	8	1685	c.1685T>A	c.(1684-1686)ATG>AAG	p.M562K	ODZ2_uc003lzq.2_Missense_Mutation_p.M441K|ODZ2_uc003lzr.3_Missense_Mutation_p.M330K|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GACAAAGAGATGGTTTCCTTC	0.483		NaN											0	0	0	0.01441	0	41	147				
ODZ2	57451	broad.mit.edu	37	5	167631486	167631486	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:167631486C>G	uc010jjd.2	+	19	3657	c.3657C>G	c.(3655-3657)TGC>TGG	p.C1219W	ODZ2_uc003lzr.3_Missense_Mutation_p.C996W|ODZ2_uc003lzt.3_Missense_Mutation_p.C592W|ODZ2_uc010jje.2_Missense_Mutation_p.C490W	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTCCCAGCTGCAACGGCCTTG	0.577		NaN											0	0	0	0.013537	0	11	50				
DOCK2	1794	broad.mit.edu	37	5	169122827	169122827	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:169122827C>G	uc003maf.2	+	10	944	c.864C>G	c.(862-864)CTC>CTG	p.L288L	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	288					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAAGACCTCAACAGGGATA	0.433		NaN											0	0	0	0.008871	0	18	83				
PRPF4B	8899	broad.mit.edu	37	6	4056655	4056655	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:4056655G>C	uc003mvv.2	+	12	2658	c.2567G>C	c.(2566-2568)CGT>CCT	p.R856P	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	856	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGATTTTATCGTGCTCCTGAA	0.383		NaN											0	0	0	0.012213	0	30	123				
NEDD9	4739	broad.mit.edu	37	6	11185604	11185604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:11185604G>A	uc003mzv.2	-	7	2463	c.2296C>T	c.(2296-2298)CAG>TAG	p.Q766*	NEDD9_uc010joz.2_Nonsense_Mutation_p.Q766*|NEDD9_uc003mzw.3_Nonsense_Mutation_p.Q620*	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	766					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGTCACCTGCCGTGTCAGC	0.557		NaN											0	0	0	0.012213	0	30	329				
DTNBP1	84062	broad.mit.edu	37	6	15663055	15663055	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:15663055A>T	uc003nbm.2	-	1	217	c.46T>A	c.(46-48)TTC>ATC	p.F16I	DTNBP1_uc003nbl.2_5'UTR|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.F16I|DTNBP1_uc010jph.2_5'UTR	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	16					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CCGGAGGTGAAATCCTGCTGC	0.716		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.024334	0	25	166				
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26225674G>A	uc003nhb.2	+	2	652	c.292G>A	c.(292-294)GAG>AAG	p.E98K	HIST1H3E_uc003nhc.3_Missense_Mutation_p.E98K	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592		NaN									OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	71	88				
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:26234919G>C	uc003nhd.2	-	1	298	c.243C>G	c.(241-243)ATC>ATG	p.I81M		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542		NaN											0	0	0	0.01441	0	64	134				
SCAND3	114821	broad.mit.edu	37	6	28540437	28540437	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:28540437C>T	uc003nlo.2	-	4	3847	c.3229G>A	c.(3229-3231)GAA>AAA	p.E1077K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1077					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						actaagagttcatttcgtatt	0		NaN											0	0	0	0.008361	0	30	104				
HLA-A	3105	broad.mit.edu	37	6	29913231	29913231	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:29913231G>C	uc003nol.2	+	8	1097	c.1097G>C	c.(1096-1098)TGA>TCA	p.*366S	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372S|HLA-A_uc003noo.2_Missense_Mutation_p.E367Q|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300S|HLA-A_uc003nom.2_Missense_Mutation_p.E244Q|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245S|HLA-A_uc011dmd.1_3'UTR	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	366					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCTATAGTGTGAGACAGCTGC	0.448		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.012319	0	19	65				
BAT1	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31500659C>T	uc003ntt.2	-	7	1396	c.765G>A	c.(763-765)ACG>ACA	p.T255T	BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.T62T|BAT1_uc003nts.2_Silent_p.T255T|BAT1_uc011dnn.1_Silent_p.T177T|BAT1_uc003ntu.2_Silent_p.T255T|BAT1_uc003ntv.2_Silent_p.T255T	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	255					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						GCGTCAACTTCGTCTCATCAT	0.388		NaN											0	0	0	0.007413	0	18	51				
BAT1	7919	broad.mit.edu	37	6	31503186	31503186	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:31503186C>G	uc003ntt.2	-	6	1324	c.693G>C	c.(691-693)TTG>TTC	p.L231F	BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.L231F|BAT1_uc011dnn.1_Missense_Mutation_p.L153F|BAT1_uc003ntu.2_Missense_Mutation_p.L231F|BAT1_uc003ntv.2_Missense_Mutation_p.L231F|BAT1_uc003ntw.2_Missense_Mutation_p.L231F|BAT1_uc003ntx.2_Missense_Mutation_p.L231F|BAT1_uc011dno.1_Missense_Mutation_p.L184F|BAT1_uc011dnp.1_Missense_Mutation_p.L153F	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	231	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						TCTCTTTGCTCAAGGTAGCAC	0.343		NaN											0	0	0	0.027356	0	24	110				
TNXB	7148	broad.mit.edu	37	6	32053791	32053791	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:32053791C>T	uc003nzl.2	-	7	3086	c.2884G>A	c.(2884-2886)GAG>AAG	p.E962K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1049	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCTCCCAGCTCCTGGGGGCGC	0.662		NaN											0	0	0	0.013537	0	13	18				
PFDN6	10471	broad.mit.edu	37	6	33258524	33258524	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:33258524G>C	uc003odt.1	+	5	407	c.292G>C	c.(292-294)GAG>CAG	p.E98Q	WDR46_uc003ods.2_5'Flank|WDR46_uc011dra.1_5'Flank|WDR46_uc010juo.1_5'Flank|PFDN6_uc010jup.1_Missense_Mutation_p.E98Q	NM_014260	NP_055075	O15212	PFD6_HUMAN	HLA class II region expressed gene KE2	98					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding				0						TCGGGATCTTGAGCGGCAGTC	0.562		NaN											0	0	0	0.00308	0	8	27				
HMGCLL1	54511	broad.mit.edu	37	6	55406532	55406532	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:55406532G>T	uc003pcn.2	-	4	541	c.382C>A	c.(382-384)CCA>ACA	p.P128T	HMGCLL1_uc003pco.2_Missense_Mutation_p.P98T|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxd.1_Missense_Mutation_p.P98T|HMGCLL1_uc011dxe.1_Missense_Mutation_p.P98T|HMGCLL1_uc003pcp.2_Missense_Mutation_p.P98T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	128							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATACCTGTGGTACCCATCTG	0.308		NaN											1	0	1.75199e-13	0.007291	1.87685e-13	28	125				
NT5E	4907	broad.mit.edu	37	6	86200279	86200279	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:86200279G>A	uc003pko.3	+	7	1820	c.1264G>A	c.(1264-1266)GAC>AAC	p.D422N	NT5E_uc010kbr.2_Intron	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	422					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGGCACATTTGACCTAGTCCA	0.517		NaN											0	0	0	0.014323	0	23	59				
ORC3L	23595	broad.mit.edu	37	6	88321837	88321837	+	Silent	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:88321837C>G	uc003pmh.2	+	8	788	c.744C>G	c.(742-744)CTC>CTG	p.L248L	ORC3L_uc011dzl.1_Silent_p.L248L|ORC3L_uc011dzm.1_Silent_p.L248L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.L248L|ORC3L_uc003pmi.2_Silent_p.L248L|ORC3L_uc011dzo.1_Silent_p.L105L|ORC3L_uc011dzp.1_Silent_p.L105L	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	248					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		CACTAATACTCATTTTTGGAA	0.328		NaN											0	0	0	0.012319	0	20	58				
UBE2J1	51465	broad.mit.edu	37	6	90045107	90045107	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:90045107C>G	uc010kcb.2	-	7	645	c.472G>C	c.(472-474)GAT>CAT	p.D158H	UBE2J1_uc003pnc.2_Missense_Mutation_p.D158H	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	158	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		AACAGGACATCCTTCATGGCA	0.358		NaN											0	0	0	0.012319	0	21	54				
PRDM1	639	broad.mit.edu	37	6	106552838	106552838	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:106552838G>A	uc003prd.2	+	5	1037	c.803G>A	c.(802-804)CGT>CAT	p.R268H	PRDM1_uc003pre.2_Missense_Mutation_p.R134H	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	268					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACCTCTACCGTTCTAACATT	0.478		NaN	D|N|Mis|F|S		DLBCL								0	0	0	0.01441	0	83	734				
PDSS2	57107	broad.mit.edu	37	6	107780282	107780282	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780282G>T	uc003prt.2	-	1	498	c.208C>A	c.(208-210)CGC>AGC	p.R70S	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.R70S|PDSS2_uc003pru.2_Missense_Mutation_p.R70S|PDSS2_uc003prv.2_Missense_Mutation_p.R70S	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622		NaN									OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.86212e-05	0.008291	3.93576e-05	10	56				
PDSS2	57107	broad.mit.edu	37	6	107780434	107780434	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:107780434G>A	uc003prt.2	-	1	346	c.56C>T	c.(55-57)TCC>TTC	p.S19F	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.S19F|PDSS2_uc003pru.2_Missense_Mutation_p.S19F|PDSS2_uc003prv.2_Missense_Mutation_p.S19F	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	19					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCGACGCGGGGAACCCGAGGC	0.617		NaN									OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	17	115				
REV3L	5980	broad.mit.edu	37	6	111628632	111628632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:111628632G>A	uc003puy.3	-	31	9507	c.9184C>T	c.(9184-9186)CAG>TAG	p.Q3062*	REV3L_uc003pux.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q2984*|REV3L_uc003puw.3_Nonsense_Mutation_p.Q129*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	3062					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCAACATGCTGAGGTTGGCTC	0.458		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.012213	0	28	98				
RWDD1	51389	broad.mit.edu	37	6	116914146	116914146	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:116914146G>C	uc003pxd.2	+	7	777	c.614G>C	c.(613-615)GGA>GCA	p.G205A	RWDD1_uc003pxb.2_Missense_Mutation_p.G109A|RWDD1_uc003pxc.2_Missense_Mutation_p.G109A	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	205							protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TTTGCAGCTGGAAACAACGTG	0.393		NaN											0	0	0	0.004482	0	7	44				
PTPRK	5796	broad.mit.edu	37	6	128291416	128291416	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:128291416G>A	uc003qbk.2	-	30	4643	c.4276C>T	c.(4276-4278)CGT>TGT	p.R1426C	PTPRK_uc003qbj.2_Missense_Mutation_p.R1427C|PTPRK_uc010kfc.2_Missense_Mutation_p.R1433C|PTPRK_uc011ebu.1_Missense_Mutation_p.R1449C	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1426	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGCAGAAACGGTATTGCTCC	0.373		NaN											0	0	0	0.008871	0	19	59				
PERP	64065	broad.mit.edu	37	6	138413346	138413346	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:138413346G>C	uc003qht.2	-	3	598	c.415C>G	c.(415-417)CTT>GTT	p.L139V		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	139					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TTGGCATGAAGGGTGAAGGTC	0.488		NaN											0	0	0	0.027356	0	26	102				
C7orf27	221927	broad.mit.edu	37	7	2583404	2583404	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:2583404G>A	uc003smi.2	-	5	665	c.623C>T	c.(622-624)TCC>TTC	p.S208F	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.S208F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	208					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GGTGGCCGCGGAGCACAAGGA	0.677		NaN											0	0	0	0.01441	0	44	149				
TNRC18	84629	broad.mit.edu	37	7	5353241	5353241	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:5353241G>C	uc003soi.3	-	27	7630	c.7281C>G	c.(7279-7281)CTC>CTG	p.L2427L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2427	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCATGGTGATGAGGGGTGCTG	0.721		NaN											0	0	0	0.024245	0	13	13				
RPA3	6119	broad.mit.edu	37	7	7676707	7676707	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:7676707C>G	uc003sri.2	-	8	1462	c.290G>C	c.(289-291)GGA>GCA	p.G97A	RPA3_uc003srh.2_Missense_Mutation_p.G58A	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	97					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		ATTGTAAAGTCCAAGATCTGA	0.303		NaN						Direct_reversal_of_damage|NER					0	0	0	0.00632	0	29	211				
DNAH11	8701	broad.mit.edu	37	7	21599258	21599258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:21599258G>T	uc003svc.2	+	4	761	c.730G>T	c.(730-732)GAA>TAA	p.E244*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	244	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TCATGCAATTGAATCTGTGGT	0.338		NaN							Kartagener_syndrome				1	0	6.32553e-13	0.024334	6.7463e-13	25	34				
CCDC129	223075	broad.mit.edu	37	7	31611746	31611746	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:31611746C>T	uc003tcj.1	+	6	1332	c.339C>T	c.(337-339)ATC>ATT	p.I113I	CCDC129_uc011kad.1_Silent_p.I123I|CCDC129_uc003tci.1_Silent_p.I112I|CCDC129_uc011kae.1_Silent_p.I139I|CCDC129_uc003tck.1_Silent_p.I21I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	113											0						AAACTCCCATCCTATCCAGAG	0.398		NaN											0	0	0	0.016723	0	10	82				
BBS9	27241	broad.mit.edu	37	7	33545228	33545228	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:33545228C>G	uc003tdn.1	+	20	2782	c.2269C>G	c.(2269-2271)CTG>GTG	p.L757V	BBS9_uc003tdo.1_Missense_Mutation_p.L722V|BBS9_uc003tdp.1_Missense_Mutation_p.L752V|BBS9_uc003tdq.1_Missense_Mutation_p.L717V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L281V|BBS9_uc003tds.1_Missense_Mutation_p.L180V|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	757					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AGCGGCATTTCTGCCGCTACA	0.488		NaN							Bardet-Biedl_syndrome				0	0	0	0.004007	0	17	136				
GLI3	2737	broad.mit.edu	37	7	42005585	42005585	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005585C>T	uc011kbh.1	-	15	3177	c.3086G>A	c.(3085-3087)AGC>AAC	p.S1029N	GLI3_uc011kbg.1_Missense_Mutation_p.S970N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1029					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGGTTGCAGCTGCTGAGGCT	0.711		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.021553	0	5	25				
GLI3	2737	broad.mit.edu	37	7	42005604	42005604	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:42005604G>A	uc011kbh.1	-	15	3158	c.3067C>T	c.(3067-3069)CGC>TGC	p.R1023C	GLI3_uc011kbg.1_Missense_Mutation_p.R964C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1023					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGCTGAAGCGCGGCACACGA	0.731		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.014758	0	4	22				
ABCA13	154664	broad.mit.edu	37	7	48266924	48266924	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48266924C>G	uc003toq.2	+	6	559	c.534C>G	c.(532-534)ATC>ATG	p.I178M	ABCA13_uc003top.2_Missense_Mutation_p.I178M|ABCA13_uc010kyr.2_Translation_Start_Site	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	178					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCCTCATATCTGGGATTTTC	0.428		NaN											0	0	0	0.013726	0	32	135				
ABCA13	154664	broad.mit.edu	37	7	48349571	48349571	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:48349571C>T	uc003toq.2	+	24	9374	c.9349C>T	c.(9349-9351)CTG>TTG	p.L3117L	ABCA13_uc010kys.1_Silent_p.L191L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3117					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CACCGTAGCTCTGTCTGGAAA	0.502		NaN											0	0	0	0.010504	0	21	105				
AUTS2	26053	broad.mit.edu	37	7	70249966	70249966	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:70249966C>G	uc003tvw.3	+	16	2928	c.2185C>G	c.(2185-2187)CCT>GCT	p.P729A	AUTS2_uc003tvx.3_Missense_Mutation_p.P705A|AUTS2_uc011keg.1_Missense_Mutation_p.P181A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	729										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGGGCCACCTCCTCATCACAG	0.507		NaN											0	0	0	0.00499	0	14	62				
GTF2IRD1	9569	broad.mit.edu	37	7	73933956	73933956	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:73933956C>G	uc003uaq.2	+	6	1216	c.823C>G	c.(823-825)CCT>GCT	p.P275A	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.P307A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.P275A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P275A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	275						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						GCAGGAAGCACCTTCCTGCCC	0.657		NaN											0	0	0	0.013537	0	13	55				
ABCB4	5244	broad.mit.edu	37	7	87072646	87072646	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:87072646C>T	uc003uiv.1	-	12	1421	c.1345G>A	c.(1345-1347)GAT>AAT	p.D449N	ABCB4_uc003uiw.1_Missense_Mutation_p.D449N|ABCB4_uc003uix.1_Missense_Mutation_p.D449N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	449	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCCCTCATCAGGGTCATAG	0.507		NaN											0	0	0	0.01441	0	83	268				
STAG3	10734	broad.mit.edu	37	7	99783835	99783835	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:99783835G>C	uc003utx.1	+	5	504	c.349G>C	c.(349-351)GAG>CAG	p.E117Q	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	117					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGGTAGATGAGTGGCTGGA	0.284		NaN											0	0	0	0.017118	0	30	197				
CDHR3	222256	broad.mit.edu	37	7	105672957	105672957	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:105672957C>T	uc003vdl.3	+	19	2580	c.2472C>T	c.(2470-2472)GTC>GTT	p.V824V	CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Silent_p.V811V|CDHR3_uc011klt.1_Silent_p.V736V|CDHR3_uc003vdn.2_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	824	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CACGCAGAGTCACTGCTGGGG	0.532		NaN											0	0	0	0.006122	0	16	22				
SLC26A4	5172	broad.mit.edu	37	7	107315425	107315425	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:107315425G>A	uc003vep.2	+	6	860	c.636G>A	c.(634-636)GTG>GTA	p.V212V		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	212	Helical; (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						GATTCATAGTGAGGTACTTGG	0.413		NaN							Pendred_syndrome				0	0	0	0.01441	0	57	181				
PPP1R3A	5506	broad.mit.edu	37	7	113518587	113518587	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:113518587C>T	uc010ljy.1	-	4	2591	c.2560G>A	c.(2560-2562)GAA>AAA	p.E854K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	854					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TTTTGATATTCTGTAATGACC	0.378		NaN											0	0	0	0.025465	0	38	150				
ZNF777	27153	broad.mit.edu	37	7	149152502	149152502	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:149152502C>T	uc003wfv.2	-	2	775	c.612G>A	c.(610-612)ATG>ATA	p.M204I		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCAGTAGCCTCATGGCCTGGG	0.602		NaN											0	0	0	0.024334	0	27	102				
PTPRN2	5799	broad.mit.edu	37	7	157926662	157926662	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:157926662G>C	uc003wno.2	-	9	1384	c.1263C>G	c.(1261-1263)CTC>CTG	p.L421L	PTPRN2_uc003wnp.2_Silent_p.L404L|PTPRN2_uc003wnq.2_Silent_p.L421L|PTPRN2_uc003wnr.2_Silent_p.L383L|PTPRN2_uc011kwa.1_Silent_p.L444L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	421	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCATGTCGAGGGGCCTTG	0.592		NaN											0	0	0	0.010818	0	31	81				
WDR60	55112	broad.mit.edu	37	7	158718985	158718985	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:158718985C>G	uc003woe.3	+	18	2523	c.2365C>G	c.(2365-2367)CAA>GAA	p.Q789E	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.Q421E	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	789	WD 2.									ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTTCTACTCAAGAAGGTAC	0.393		NaN											0	0	0	0.004672	0	3	18				
MYOM2	9172	broad.mit.edu	37	8	2057272	2057272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:2057272G>A	uc003wpx.3	+	25	3268	c.3130G>A	c.(3130-3132)GAT>AAT	p.D1044N	MYOM2_uc011kwi.1_Missense_Mutation_p.D469N	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1044					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTATCACCAGATGCCAGCTA	0.463		NaN											0	0	0	0.021022	0	37	45				
SPAG11B	10407	broad.mit.edu	37	8	7308402	7308402	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:7308402T>C	uc003wrk.2	-	4	478	c.311A>G	c.(310-312)TAG>TGG	p.*104W	SPAG11B_uc003wrg.1_Missense_Mutation_p.R79G|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Nonstop_Mutation_p.*51W|SPAG11B_uc003wrj.2_Missense_Mutation_p.R26G|SPAG11B_uc003wrl.2_Missense_Mutation_p.R79G	NM_016512	NP_057596	Q08648	SG11B_HUMAN	sperm associated antigen 11B isoform A	104					spermatogenesis	extracellular region					0				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATGGTATTTCTAATTCCCGGT	0.458		NaN											0	0	0	0.014323	0	22	64				
SGK223	157285	broad.mit.edu	37	8	8197120	8197120	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:8197120C>G	uc003wsh.3	-	3	2188	c.2188G>C	c.(2188-2190)GAT>CAT	p.D730H		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	730							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TTTTCCAAATCAGAGCTGCTC	0.498		NaN											0	0	0	0.015359	0	32	56				
PRKDC	5591	broad.mit.edu	37	8	48805803	48805803	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:48805803G>A	uc003xqi.2	-	32	3801	c.3744C>T	c.(3742-3744)TTC>TTT	p.F1248F	PRKDC_uc003xqj.2_Silent_p.F1248F|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1248					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGCAGGCTGAATGGCCCCC	0.617		NaN						NHEJ					0	0	0	0.014758	0	5	26				
PXDNL	137902	broad.mit.edu	37	8	52339252	52339252	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:52339252G>A	uc003xqu.3	-	13	1693	c.1592C>T	c.(1591-1593)TCA>TTA	p.S531L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	531	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCATGACATGAAATGTTTAT	0.358		NaN											0	0	0	0.021553	0	5	31				
CLVS1	157807	broad.mit.edu	37	8	62371083	62371083	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:62371083C>T	uc003xuh.2	+	5	1283	c.959C>T	c.(958-960)TCA>TTA	p.S320L	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	320					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AGAGAATGCTCACCCAAGCTG	0.443		NaN											0	0	0	0.004007	0	14	32				
TRIM55	84675	broad.mit.edu	37	8	67047319	67047319	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:67047319C>T	uc003xvv.2	+	3	662	c.436C>T	c.(436-438)CTG>TTG	p.L146L	TRIM55_uc003xvu.2_Silent_p.L146L|TRIM55_uc003xvw.2_Silent_p.L146L|TRIM55_uc003xvx.2_Silent_p.L146L	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	146						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CACCTGCTCTCTGTGCAAGGT	0.547		NaN											0	0	0	0.00499	0	17	126				
NCOA2	10499	broad.mit.edu	37	8	71053436	71053436	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:71053436G>C	uc003xyn.1	-	14	3173	c.3011C>G	c.(3010-3012)TCT>TGT	p.S1004C	NCOA2_uc011lfb.1_Missense_Mutation_p.S92C	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1004					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATGACCTGAGACTGAAGCGT	0.498		NaN	T	RUNXBP2	AML								0	0	0	0.021553	0	6	55				
ZFHX4	79776	broad.mit.edu	37	8	77766597	77766597	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:77766597G>A	uc003yav.2	+	10	7692	c.7305G>A	c.(7303-7305)ACG>ACA	p.T2435T	ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCCATGACGTCTCTCCAGA	0.458		NaN								HNSCC(33;0.089)			0	0	0	0.01441	0	117	22				
CSMD3	114788	broad.mit.edu	37	8	113318315	113318315	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr8:113318315C>A	uc003ynu.2	-	51	8151	c.7992G>T	c.(7990-7992)TTG>TTT	p.L2664F	CSMD3_uc003yns.2_Missense_Mutation_p.L1866F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2624F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2560F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2664	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTTGGATGACAATCGATATC	0.418		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	0	5.8336e-16	0.015359	6.36273e-16	33	106				
TTC39B	158219	broad.mit.edu	37	9	15188001	15188001	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:15188001C>G	uc003zlr.1	-	14	1286	c.1165G>C	c.(1165-1167)GAT>CAT	p.D389H	TTC39B_uc003zlq.1_Missense_Mutation_p.D358H|TTC39B_uc011lmp.1_Missense_Mutation_p.D290H|TTC39B_uc010mie.1_Missense_Mutation_p.D387H|TTC39B_uc011lmq.1_Missense_Mutation_p.D376H|TTC39B_uc011lmr.1_Missense_Mutation_p.D320H|TTC39B_uc010mif.1_Missense_Mutation_p.D389H|TTC39B_uc003zls.1_Missense_Mutation_p.D290H|TTC39B_uc010mig.1_Missense_Mutation_p.D358H|TTC39B_uc003zlp.1_5'UTR	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	389							binding			ovary(1)	1						CAAAGCAGATCTGAATAGTAA	0.373		NaN											0	0	0	0.008361	0	25	100				
BNC2	54796	broad.mit.edu	37	9	16437085	16437085	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:16437085G>A	uc003zml.2	-	6	1247	c.1107C>T	c.(1105-1107)TCC>TCT	p.S369S	BNC2_uc011lmw.1_Silent_p.S274S|BNC2_uc003zmm.2_Silent_p.S327S|BNC2_uc003zmq.1_Silent_p.S383S|BNC2_uc003zmr.1_Silent_p.S406S|BNC2_uc003zmp.1_Silent_p.S397S|BNC2_uc010mij.1_Silent_p.S291S|BNC2_uc011lmv.1_Silent_p.S195S|BNC2_uc003zmo.1_Silent_p.S291S|BNC2_uc003zmj.2_Silent_p.S134S|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.S134S|BNC2_uc003zmn.1_Silent_p.S134S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GAGAAACTTCGGATTCGCTGC	0.483		NaN											0	0	0	0.024245	0	14	138				
MLLT3	4300	broad.mit.edu	37	9	20414109	20414109	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:20414109C>G	uc003zoe.2	-	5	994	c.735G>C	c.(733-735)GAG>GAC	p.E245D	MLLT3_uc011lne.1_Missense_Mutation_p.E213D|MLLT3_uc011lnf.1_Missense_Mutation_p.E242D|MLLT3_uc003zof.2_Missense_Mutation_p.E46D	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GAACTATTTTCTCTTCTTTCA	0.388		NaN	T	MLL	ALL								0	0	0	0.01441	0	65	210				
MSMP	692094	broad.mit.edu	37	9	35754000	35754000	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:35754000G>C	uc003zyb.1	-	1	273	c.127C>G	c.(127-129)CAA>GAA	p.Q43E		NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN	PC3-secreted microprotein precursor	43						extracellular region					0						ACTTTACCTTGAGCTTGGAAG	0.552		NaN											0	0	0	0.01441	0	428	245				
FAM75A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	by1000genomes	TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:43625382G>A	uc011lrb.1	-	4	3334	c.3305C>T	c.(3304-3306)CCT>CTT	p.P1102L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1102						integral to membrane					0						CTTGTGAATAGGGGGAAACAT	0.483		NaN											0	0	0	0.013537	0	8	49				
FLJ46321	389763	broad.mit.edu	37	9	84607086	84607086	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:84607086G>A	uc004amn.2	+	4	1748	c.1701G>A	c.(1699-1701)CTG>CTA	p.L567L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	567						integral to membrane					0						CTCAAACCCTGCCCCAAGGTC	0.517		NaN											0	0	0	0.024334	0	25	122				
SPIN1	10927	broad.mit.edu	37	9	91090081	91090081	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:91090081G>A	uc010mqj.2	+	6	1178	c.678G>A	c.(676-678)TCG>TCA	p.S226S	SPIN1_uc004apy.2_Silent_p.S226S|SPIN1_uc004apz.2_Silent_p.S226S|SPIN1_uc010mqk.2_Silent_p.S226S	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	spindlin	226					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding				0						AAGATGGCTCGAAAAGGACTG	0.418		NaN											0	0	0	0.012319	0	21	103				
WNK2	65268	broad.mit.edu	37	9	96015214	96015214	+	Silent	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:96015214G>A	uc004ati.1	+	8	1884	c.1884G>A	c.(1882-1884)TCG>TCA	p.S628S	WNK2_uc011lud.1_Silent_p.S628S|WNK2_uc004atj.2_Silent_p.S628S|WNK2_uc004atk.2_Silent_p.S265S|WNK2_uc010mrc.1_Silent_p.S628S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	628					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACTCAGACTCGCAGAGCAGCC	0.642		NaN											0	0	0	0.009096	0	4	3				
KIAA1529	57653	broad.mit.edu	37	9	100079409	100079409	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:100079409G>A	uc011lut.1	+	21	2180	c.1407G>A	c.(1405-1407)ATG>ATA	p.M469I	KIAA1529_uc004axe.1_Missense_Mutation_p.M469I|KIAA1529_uc004axg.1_Missense_Mutation_p.M330I|KIAA1529_uc011lus.1_Missense_Mutation_p.M287I|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.M330I|KIAA1529_uc011luv.1_Missense_Mutation_p.M327I	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TCAACCTGATGGAGTCCACCC	0.612		NaN											0	0	0	0.008361	0	30	125				
MURC	347273	broad.mit.edu	37	9	103348232	103348232	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:103348232C>T	uc004bba.2	+	2	684	c.594C>T	c.(592-594)ATC>ATT	p.I198I		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	198					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				TTGATAATATCAAGAAGGCAT	0.423		NaN											0	0	0	0.01441	0	72	39				
ZNF189	7743	broad.mit.edu	37	9	104171809	104171809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:104171809C>T	uc004bbh.1	+	3	2035	c.1759C>T	c.(1759-1761)CAG>TAG	p.Q587*	ZNF189_uc004bbg.1_Nonsense_Mutation_p.Q545*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.Q573*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.Q572*	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	587	C2H2-type 15.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				TGTCAACCATCAGAAGATCCA	0.423		NaN											0	0	0	0.01892	0	25	55				
C9orf5	23731	broad.mit.edu	37	9	111812856	111812856	+	Silent	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:111812856G>C	uc004bdt.3	-	13	2003	c.1971C>G	c.(1969-1971)CTC>CTG	p.L657L	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.L649L	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	657	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		GTACCAGAGAGAGTACAAAAT	0.443		NaN											0	0	0	0.00499	0	15	76				
SUSD1	64420	broad.mit.edu	37	9	114904756	114904756	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:114904756C>T	uc004bfu.2	-	5	591	c.550G>A	c.(550-552)GAG>AAG	p.E184K	SUSD1_uc010mui.2_Missense_Mutation_p.E184K|SUSD1_uc010muj.2_Missense_Mutation_p.E184K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	184	Sushi 1.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						TCTGGAACCTCAGGAGGGGTA	0.398		NaN											0	0	0	0.01441	0	111	82				
TLR4	7099	broad.mit.edu	37	9	120475327	120475327	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:120475327G>C	uc004bjz.2	+	3	1212	c.921G>C	c.(919-921)TTG>TTC	p.L307F	TLR4_uc004bka.2_Missense_Mutation_p.L267F|TLR4_uc004bkb.2_Missense_Mutation_p.L107F	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	307	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTAATTGTTTGACAAATGTTT	0.338		NaN											0	0	0	0.008361	0	30	106				
WDR38	401551	broad.mit.edu	37	9	127617983	127617983	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:127617983C>T	uc004box.2	+	3	317	c.261C>T	c.(259-261)GTC>GTT	p.V87V	WDR38_uc011lzn.1_Silent_p.V76V|WDR38_uc011lzo.1_Silent_p.V87V|WDR38_uc011lzp.1_Intron	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	87	WD 2.										0						ACTGCACTGTCCGCCTGTGGG	0.642		NaN									OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	19	77				
PTGES2	80142	broad.mit.edu	37	9	130887585	130887585	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887585C>G	uc004bti.2	-	2	893	c.415G>C	c.(415-417)GAG>CAG	p.E139Q	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	139	Glutaredoxin.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						AACTTGATCTCAGCCCTGCGC	0.602		NaN											0	0	0	0.006122	0	18	8				
PTGES2	80142	broad.mit.edu	37	9	130887694	130887694	+	Silent	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:130887694C>T	uc004bti.2	-	2	784	c.306G>A	c.(304-306)CTG>CTA	p.L102L	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_5'UTR|PTGES2_uc004btl.2_5'UTR|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	102	Glutaredoxin.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						GGTACAGGGTCAGCTGCAGGC	0.637		NaN											0	0	0	0.023175	0	35	23				
MED27	9442	broad.mit.edu	37	9	134889766	134889766	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr9:134889766C>T	uc004cbe.1	-	3	459	c.437G>A	c.(436-438)CGT>CAT	p.R146H	MED27_uc004cbf.1_Missense_Mutation_p.R146H|MED27_uc011mco.1_Missense_Mutation_p.R146H|MED27_uc004cbg.3_Missense_Mutation_p.R146H	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTTGGTCTACGTTTGGCAGA	0.428		NaN											0	0	0	0.024334	0	24	73				
MXRA5	25878	broad.mit.edu	37	X	3238916	3238916	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:3238916G>C	uc004crg.3	-	5	4967	c.4810C>G	c.(4810-4812)CAA>GAA	p.Q1604E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1604						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTTAGTTGATGAGAAGCA	0.483		NaN											0	0	0	0.025465	0	42	82				
OFD1	8481	broad.mit.edu	37	X	13780470	13780470	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:13780470C>G	uc004cvp.3	+	18	2754	c.2395C>G	c.(2395-2397)CGA>GGA	p.R799G	OFD1_uc004cvr.3_Missense_Mutation_p.R366G|OFD1_uc011mil.1_Missense_Mutation_p.R366G|OFD1_uc004cvq.3_Missense_Mutation_p.R659G|OFD1_uc010nen.2_Missense_Mutation_p.R798G|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R758G|OFD1_uc004cvv.3_Missense_Mutation_p.R758G	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	799	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						TAGTCTTTATCGAAGACAAAC	0.343		NaN											0	0	0	0.027356	0	24	64				
FAM47B	170062	broad.mit.edu	37	X	34961687	34961687	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:34961687C>G	uc004ddi.1	+	1	757	c.739C>G	c.(739-741)CTC>GTC	p.L247V		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	247	Pro-rich.									ovary(3)|breast(1)	4						CGCATCTCATCTCCGCGTGGA	0.627		NaN											0	0	0	0.024334	0	25	63				
CDK16	5127	broad.mit.edu	37	X	47083838	47083838	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:47083838C>T	uc004dho.2	+	3	653	c.257C>T	c.(256-258)TCA>TTA	p.S86L	CDK16_uc011mli.1_Missense_Mutation_p.S92L|CDK16_uc011mlj.1_Missense_Mutation_p.S86L|CDK16_uc011mlk.1_Missense_Mutation_p.S86L|CDK16_uc011mll.1_Missense_Mutation_p.S160L	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	86							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GACCAGGCTTCAGCCACGTCC	0.607		NaN											0	0	0	0.020292	0	15	23				
ARHGEF9	23229	broad.mit.edu	37	X	62885870	62885870	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:62885870C>G	uc004dvl.2	-	7	1791	c.952G>C	c.(952-954)GAG>CAG	p.E318Q	ARHGEF9_uc004dvj.1_Missense_Mutation_p.E207Q|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Missense_Mutation_p.E297Q|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E297Q|ARHGEF9_uc011mot.1_Missense_Mutation_p.E265Q|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E325Q	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	318	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						TAGATCAGCTCCGAGCTCCTG	0.592		NaN											0	0	0	0.004007	0	16	31				
FAM123B	139285	broad.mit.edu	37	X	63411969	63411969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63411969C>A	uc004dvo.2	-	2	1471	c.1198G>T	c.(1198-1200)GAG>TAG	p.E400*		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	400	Glu-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						tcttcttcctcctccttaacc	0.343		NaN											1	0	2.35188e-11	0.006122	2.49175e-11	18	42				
FAM123B	139285	broad.mit.edu	37	X	63412290	63412290	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412290C>T	uc004dvo.2	-	2	1150	c.877G>A	c.(877-879)GTA>ATA	p.V293I		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	293					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CCTGCTACTACCTTCTCCCCT	0.557		NaN											0	0	0	0.011902	0	46	103				
FAM123B	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:63412575C>G	uc004dvo.2	-	2	865	c.592G>C	c.(592-594)GAG>CAG	p.E198Q		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	198					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTGACCCTCTCAGGCCCCTTG	0.577		NaN											0	0	0	0.004007	0	16	35				
MAGEE1	57692	broad.mit.edu	37	X	75649248	75649248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:75649248C>T	uc004ecm.1	+	1	1132	c.925C>T	c.(925-927)CAG>TAG	p.Q309*		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	309	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CACCTCCGTGCAGCCCACTGC	0.692		NaN											0	0	0	0.004672	0	3	22				
DIAPH2	1730	broad.mit.edu	37	X	96854279	96854279	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:96854279C>G	uc004efu.3	+	27	3665	c.3269C>G	c.(3268-3270)TCA>TGA	p.S1090*		NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	1090					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TTGGAAAGGTCACGCTCTCGC	0.353		NaN											0	0	0	0.00308	0	7	3				
AVPR2	554	broad.mit.edu	37	X	153171751	153171751	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chrX:153171751C>T	uc004fjh.3	+	2	862	c.791C>T	c.(790-792)GCA>GTA	p.A264V	AVPR2_uc004fjg.3_Missense_Mutation_p.A53V|AVPR2_uc004fji.2_Missense_Mutation_p.A264V	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	264	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACGTGTCAGCAGCTGTGGCC	0.657		NaN											0	0	0	0.007413	0	19	18				
CPSF3L	54973	broad.mit.edu	37	1	1248252	1248252	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:1248252G>A	uc001aee.1	-	12	1267	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Silent_p.G409G|CPSF3L_uc009vjz.1_Silent_p.G381G|CPSF3L_uc010nyj.1_Silent_p.G374G|CPSF3L_uc001aeg.1_Silent_p.G279G|CPSF3L_uc001aeh.1_Silent_p.G302G|CPSF3L_uc001aei.1_Silent_p.G305G|CPSF3L_uc001aej.1_Silent_p.G230G|CPSF3L_uc001aek.1_Silent_p.G145G	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	403						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GCTCTGCCTGGCCCACCAGCT	0.632		NaN											0	0	0	0.01441	0	59	5				
KIAA0562	9731	broad.mit.edu	37	1	3742336	3742336	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:3742336C>A	uc001aky.2	-	18	2709	c.2350G>T	c.(2350-2352)GAC>TAC	p.D784Y	KIAA0562_uc010nzm.1_RNA	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	784						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TTGCAGTGGTCACATCTTGTC	0.507		NaN											1	0	1.61004e-24	0.01441	2.02165e-24	45	32				
MFN2	9927	broad.mit.edu	37	1	12057360	12057360	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:12057360A>G	uc001atn.3	+	6	934	c.481A>G	c.(481-483)AAC>GAC	p.N161D	MFN2_uc009vni.2_Missense_Mutation_p.N161D	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	161	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCAGACTGTGAACCAGCTGGC	0.572		NaN											0	0	0	0.01441	0	50	4				
TNFRSF1B	7133	broad.mit.edu	37	1	12251959	12251959	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:12251959G>T	uc001att.2	+	4	525	c.436G>T	c.(436-438)GGC>TGC	p.G146C	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	146	TNFR-Cys 3.|Extracellular (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GTGCCGCCCGGGCTTCGGCGT	0.682		NaN											1	0	6.75472e-32	0.01441	9.01171e-32	58	5				
UBR4	23352	broad.mit.edu	37	1	19404471	19404471	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:19404471T>G	uc001bbi.2	-	104	15327	c.15323A>C	c.(15322-15324)AAG>ACG	p.K5108T	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_Missense_Mutation_p.K3T|UBR4_uc010ocv.1_Missense_Mutation_p.K631T|UBR4_uc009vph.2_Missense_Mutation_p.K742T|UBR4_uc010ocw.1_Missense_Mutation_p.K772T|UBR4_uc001bbg.2_Missense_Mutation_p.K819T|UBR4_uc001bbh.2_Missense_Mutation_p.K817T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5108					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTCCTTACCTTAAACATGTT	0.507		NaN											0	0	0	0.01441	0	43	2				
PTPRU	10076	broad.mit.edu	37	1	29638200	29638200	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:29638200G>C	uc001bru.2	+	22	3141	c.3031G>C	c.(3031-3033)GAC>CAC	p.D1011H	PTPRU_uc001brv.2_Missense_Mutation_p.D1007H|PTPRU_uc001brw.2_Missense_Mutation_p.D1001H|PTPRU_uc009vtq.2_Missense_Mutation_p.D1007H|PTPRU_uc009vtr.2_Missense_Mutation_p.D998H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1011	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CACCTACGGGGACATCAAGAT	0.607		NaN											0	0	0	0.013114	0	45	88				
UROD	7389	broad.mit.edu	37	1	45480182	45480182	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:45480182C>T	uc001cna.1	+	7	816	c.708C>T	c.(706-708)TAC>TAT	p.Y236Y	UROD_uc001cnb.1_Silent_p.Y201Y|UROD_uc010olj.1_3'UTR|UROD_uc001cnc.1_Silent_p.Y141Y	NM_000374	NP_000365	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	236						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)					CACTGCCTTACATCCGTGATG	0.542		NaN							Porphyria_Cutanea_Tarda_Type_II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	67	3				
USP24	23358	broad.mit.edu	37	1	55549036	55549036	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:55549036T>G	uc001cyg.3	-	55	6404	c.6404A>C	c.(6403-6405)CAA>CCA	p.Q2135P		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2295					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						CCTAATTCCTTGCTGTCACAA	0.393		NaN											0	0	0	0.021523	0	26	6				
INADL	10207	broad.mit.edu	37	1	62240939	62240939	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:62240939G>T	uc001dab.2	+	7	896	c.782G>T	c.(781-783)GGA>GTA	p.G261V	INADL_uc009waf.1_Missense_Mutation_p.G261V|INADL_uc001daa.2_Missense_Mutation_p.G261V|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	261	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CTAGGTTTTGGAATAGTTGGA	0.413		NaN											1	0	6.70656e-16	0.01441	7.80323e-16	61	96				
KANK4	163782	broad.mit.edu	37	1	62739459	62739459	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:62739459G>A	uc001dah.3	-	3	1694	c.1317C>T	c.(1315-1317)AGC>AGT	p.S439S	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	439										ovary(3)|skin(2)|lung(1)	6						CAGACTCCATGCTGCCTAGAA	0.562		NaN											0	0	0	0.01441	0	116	105				
SGIP1	84251	broad.mit.edu	37	1	67147961	67147961	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:67147961A>T	uc001dcr.2	+	15	1441	c.1224A>T	c.(1222-1224)AGA>AGT	p.R408S	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R175S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	408	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						TGGGACAAAGAGCAACTCCAC	0.512		NaN											0	0	0	0.004656	0	26	179				
MIER1	57708	broad.mit.edu	37	1	67436628	67436628	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:67436628A>G	uc001dde.2	+	9	1044	c.910A>G	c.(910-912)AAA>GAA	p.K304E	MIER1_uc010opf.1_Missense_Mutation_p.K268E|MIER1_uc009way.2_Missense_Mutation_p.K268E|MIER1_uc001ddc.2_Missense_Mutation_p.K304E|MIER1_uc001ddh.2_Missense_Mutation_p.K188E|MIER1_uc001ddf.2_Missense_Mutation_p.K268E|MIER1_uc001ddg.2_Missense_Mutation_p.K224E|MIER1_uc010opg.1_Missense_Mutation_p.K268E|MIER1_uc001ddj.1_Missense_Mutation_p.K251E|MIER1_uc001ddi.2_Missense_Mutation_p.K251E	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	275	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						ATCTCACATAAAAGACAATGA	0.353		NaN											0	0	0	0.01892	0	19	42				
FPGT	8790	broad.mit.edu	37	1	74670542	74670542	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:74670542G>C	uc001dgb.1	+	4	848	c.811G>C	c.(811-813)GAT>CAT	p.D271H	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	271					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGTCTACACAGATAGCCTATT	0.368		NaN											0	0	0	0.021523	0	25	21				
BARHL2	343472	broad.mit.edu	37	1	91178154	91178154	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:91178154C>A	uc001dns.2	-	3	921	c.879G>T	c.(877-879)GTG>GTT	p.V293V		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	293						nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACTCCAGGCCCACCGCTGTCT	0.617		NaN											1	0	9.16793e-09	0.00499	9.76622e-09	17	19				
CCDC18	343099	broad.mit.edu	37	1	93667528	93667528	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:93667528G>A	uc001dpq.2	+	7	1300	c.1132G>A	c.(1132-1134)GCT>ACT	p.A378T		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	260	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAAAAAGTGGCTGAAAAACT	0.308		NaN											0	0	0	0.00499	0	17	17				
ANKRD35	148741	broad.mit.edu	37	1	145561389	145561389	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:145561389C>T	uc001eob.1	+	10	1185	c.1077C>T	c.(1075-1077)GGC>GGT	p.G359G	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.G202G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	359										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAAGCAAGGCTCTAGTCTCC	0.582		NaN											0	0	0	0.010504	0	22	30				
HIST2H3D	653604	broad.mit.edu	37	1	149785176	149785176	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:149785176G>A	uc010pbl.1	-	1	61	c.61C>T	c.(61-63)CTG>TTG	p.L21L	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	21					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						TTGGTAGCCAGCTGCTTCCTC	0.667		NaN											0	0	0	0.012213	0	21	75				
SNX27	81609	broad.mit.edu	37	1	151611551	151611551	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:151611551G>A	uc001eyn.1	+	2	515	c.499G>A	c.(499-501)GTC>ATC	p.V167I	SNX27_uc001eyo.2_Missense_Mutation_p.V74I|SNX27_uc001eyp.2_5'UTR	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	167	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCATATCGGTCCCCAGATA	0.463		NaN											0	0	0	0.01441	0	49	73				
EFNA1	1942	broad.mit.edu	37	1	155104034	155104034	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:155104034G>A	uc001fhh.2	+	2	417	c.312G>A	c.(310-312)CTG>CTA	p.L104L	EFNA1_uc001fhi.2_Silent_p.L104L|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	104					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGGAGAAGCTGTCTGAGAAGT	0.582		NaN											0	0	0	0.012319	0	22	41				
CCT3	7203	broad.mit.edu	37	1	156294831	156294831	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:156294831G>C	uc001fol.1	-	6	574	c.354C>G	c.(352-354)CAC>CAG	p.H118Q	CCT3_uc001fom.1_Missense_Mutation_p.H117Q|CCT3_uc001fon.1_Missense_Mutation_p.H80Q|CCT3_uc010phj.1_Missense_Mutation_p.H72Q|CCT3_uc010phk.1_Missense_Mutation_p.H72Q|CCT3_uc010phl.1_Missense_Mutation_p.H72Q	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	118					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCACTGTTGGGTGCATCTGCT	0.433		NaN											0	0	0	0.021022	0	37	90				
FCRL4	83417	broad.mit.edu	37	1	157557731	157557731	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:157557731A>G	uc001fqw.2	-	4	622	c.486T>C	c.(484-486)AAT>AAC	p.N162N	FCRL4_uc010phy.1_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	162	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GATAATTGCCATTGTTATTTG	0.308		NaN											0	0	0	0.016723	0	13	14				
SPTA1	6708	broad.mit.edu	37	1	158590242	158590242	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:158590242G>A	uc001fst.1	-	44	6334	c.6135C>T	c.(6133-6135)TTC>TTT	p.F2045F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2045	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAAATTCCACGAACAGGTCCT	0.368		NaN											0	0	0	0.007413	0	19	50				
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:158641934C>A	uc001fst.1	-	11	1602	c.1403G>T	c.(1402-1404)CGT>CTT	p.R468L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438		NaN											1	0	7.73544e-29	0.01441	1.01254e-28	64	52				
SLAMF8	56833	broad.mit.edu	37	1	159802972	159802972	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:159802972G>A	uc001fue.3	+	3	883	c.673_splice	c.e3+1	p.A225_splice		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor							integral to membrane					0	all_hematologic(112;0.0597)					CATGAGGCAGGTATGCTAAGG	0.562		NaN											0	0	0	0.01441	0	105	62				
DCAF8	50717	broad.mit.edu	37	1	160209813	160209813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:160209813C>A	uc001fvo.2	-	4	709	c.397G>T	c.(397-399)GAG>TAG	p.E133*	DCAF8_uc001fvn.2_Nonsense_Mutation_p.E133*|DCAF8_uc009wth.2_Nonsense_Mutation_p.E133*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.E133*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.E287*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.E133*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.E133*|uc010pjd.1_3'UTR	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	133						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						AGGGCCCGCTCATCATCTGAT	0.512		NaN											1	0	3.21987e-24	0.01441	4.03392e-24	46	80				
UCK2	7371	broad.mit.edu	37	1	165860506	165860506	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:165860506C>T	uc001gdp.2	+	3	484	c.303C>T	c.(301-303)ATC>ATT	p.I101I	UCK2_uc010plb.1_Missense_Mutation_p.S11L	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	101					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCAAAGAAATCACTGAAGGGA	0.413		NaN											0	0	0	0.005524	0	37	94				
DUSP27	92235	broad.mit.edu	37	1	167096802	167096802	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:167096802T>G	uc001geb.1	+	5	2434	c.2434T>G	c.(2434-2436)TGC>GGC	p.C812G		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	812					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CGCGGAAAGTTGCAGAAGCAA	0.562		NaN											0	0	0	0.01441	0	88	51				
RCSD1	92241	broad.mit.edu	37	1	167653169	167653169	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:167653169C>A	uc001gem.2	+	2	226	c.39C>A	c.(37-39)GAC>GAA	p.D13E	RCSD1_uc010pli.1_Missense_Mutation_p.D13E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	13										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CCAATGTGGACAACTCGGCGT	0.587		NaN											1	0	2.4537e-52	0.01441	3.45635e-52	120	313				
ASTN1	460	broad.mit.edu	37	1	176863873	176863873	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:176863873G>A	uc001glc.2	-	17	2977	c.2765C>T	c.(2764-2766)ACC>ATC	p.T922I	ASTN1_uc001glb.1_Missense_Mutation_p.T922I|ASTN1_uc001gld.1_Missense_Mutation_p.T922I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	930					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CATGTGCTTGGTGCCGGAGTC	0.597		NaN											0	0	0	0.01441	0	36	142				
C1orf49	84066	broad.mit.edu	37	1	178483197	178483197	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:178483197G>A	uc001glt.1	+	2	187	c.75G>A	c.(73-75)AAG>AAA	p.K25K	C1orf49_uc001glu.1_Silent_p.K25K|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Silent_p.K33K	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	25						microtubule cytoskeleton					0						TGGAATTGAAGCCAGAGCCGA	0.507		NaN											0	0	0	0.015359	0	35	78				
QSOX1	5768	broad.mit.edu	37	1	180165664	180165664	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:180165664A>G	uc001gnz.2	+	12	1811	c.1736A>G	c.(1735-1737)GAC>GGC	p.D579G	QSOX1_uc001gny.2_Missense_Mutation_p.D579G|QSOX1_uc001goa.2_Missense_Mutation_p.D579G|QSOX1_uc001goc.2_Missense_Mutation_p.D121G|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	579					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TCAACTCTGGACCCTGGGAAG	0.642		NaN											0	0	0	0.01441	0	74	143				
GLT25D2	23127	broad.mit.edu	37	1	183933111	183933111	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:183933111C>A	uc001gqr.2	-	6	1248	c.876G>T	c.(874-876)CTG>CTT	p.L292L	GLT25D2_uc010poj.1_Silent_p.L292L|GLT25D2_uc001gqq.2_Silent_p.L29L|GLT25D2_uc001gqs.2_Silent_p.L172L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	292					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						GGGGGATGGGCAGGTAGCCAT	0.522		NaN											1	0	4.7796e-09	0.004656	5.11114e-09	24	59				
IVNS1ABP	10625	broad.mit.edu	37	1	185278644	185278644	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:185278644C>A	uc001grl.2	-	3	606	c.-17_splice	c.e3-1		IVNS1ABP_uc009wyj.2_Splice_Site|IVNS1ABP_uc009wyk.2_Splice_Site	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						ATAAATTTGGCTAGATGATGA	0.299		NaN											1	0	1.40151e-16	0.010504	1.64796e-16	22	39				
PTPRC	5788	broad.mit.edu	37	1	198713182	198713182	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:198713182G>T	uc001gur.1	+	26	2872	c.2692_splice	c.e26-1	p.A898_splice	PTPRC_uc001gus.1_Splice_Site_p.A850_splice|PTPRC_uc001gut.1_Splice_Site_p.A737_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGAAATTGTAGGCCCAGTACA	0.328		NaN											1	0	3.76114e-14	0.019004	4.29512e-14	32	24				
CACNA1S	779	broad.mit.edu	37	1	201016656	201016656	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:201016656C>T	uc001gvv.2	-	37	4767	c.4540G>A	c.(4540-4542)GGA>AGA	p.G1514R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1514	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CACCTACCTCCTATTGGAGGG	0.547		NaN											0	0	0	0.007413	0	18	46				
LMOD1	25802	broad.mit.edu	37	1	201868633	201868633	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:201868633G>A	uc001gxb.2	-	2	1756	c.1508C>T	c.(1507-1509)GCC>GTC	p.A503V	LMOD1_uc010ppu.1_Missense_Mutation_p.A452V	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	503					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						CTTAGCCACGGCCCCGGCCTT	0.582		NaN											0	0	0	0.005443	0	23	30				
RCOR3	55758	broad.mit.edu	37	1	211462527	211462527	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:211462527C>T	uc001hig.2	+	7	723	c.554C>T	c.(553-555)ACT>ATT	p.T185I	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.T243I|RCOR3_uc010psw.1_Missense_Mutation_p.T243I|RCOR3_uc001hif.2_Missense_Mutation_p.T243I	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TAGGGTAATACTGAACAACCT	0.378		NaN											0	0	0	0.013114	0	47	71				
LPGAT1	9926	broad.mit.edu	37	1	212002548	212002548	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:212002548C>A	uc001hiu.2	-	2	904	c.91G>T	c.(91-93)GTT>TTT	p.V31F	LPGAT1_uc001hiv.2_Missense_Mutation_p.V31F	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	31	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GGAATAGCAACCAGGTTGTTG	0.463		NaN											1	0	2.66069e-56	0.01441	3.77668e-56	108	141				
RPS6KC1	26750	broad.mit.edu	37	1	213224846	213224846	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:213224846G>T	uc010ptr.1	+	1	259	c.100G>T	c.(100-102)GCC>TCC	p.A34S	RPS6KC1_uc001hkd.2_Missense_Mutation_p.A34S|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_5'UTR|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc009xdh.2_RNA	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	34	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAAGGTCACCGCCCGGGTGAG	0.627		NaN											1	0	0.00136819	0.013537	0.0013882	12	24				
KIAA1383	54627	broad.mit.edu	37	1	232942439	232942439	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:232942439G>T	uc001hvh.2	+	1	1802	c.1670G>T	c.(1669-1671)AGT>ATT	p.S557I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	415										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCTGTGACAAGTCCTGCTCAT	0.413		NaN											1	0	3.62473e-10	0.012319	3.94456e-10	21	62				
GNG4	2786	broad.mit.edu	37	1	235747123	235747123	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:235747123A>G	uc001hxe.3	-	3	470	c.16T>C	c.(16-18)TCT>CCT	p.S6P	GNG4_uc009xfz.2_Missense_Mutation_p.S6P|GNG4_uc001hxh.3_Missense_Mutation_p.S6P	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	6					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CTGTTATTAGACATGCCCTCT	0.507		NaN											0	0	0	0.01441	0	70	156				
ACTN2	88	broad.mit.edu	37	1	236925893	236925893	+	Missense_Mutation	SNP	G	G	A	rs148972050		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:236925893G>A	uc001hyf.2	+	21	2863	c.2659G>A	c.(2659-2661)GCA>ACA	p.A887T	ACTN2_uc001hyg.2_Missense_Mutation_p.A679T|ACTN2_uc009xgi.1_Missense_Mutation_p.A887T|ACTN2_uc010pxu.1_Missense_Mutation_p.A576T|ACTN2_uc001hyh.2_Missense_Mutation_p.A575T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	887					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTTCTCTTCCGCACTCTACGG	0.552		NaN											0	0	0	0.00308	0	8	92				
RYR2	6262	broad.mit.edu	37	1	237753123	237753123	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:237753123C>A	uc001hyl.1	+	30	3749	c.3629C>A	c.(3628-3630)GCT>GAT	p.A1210D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1210	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGGAGTGGCTCAAGTGGGT	0.383		NaN											1	0	1.64293e-13	0.01892	1.8685e-13	23	39				
FMN2	56776	broad.mit.edu	37	1	240374392	240374392	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:240374392G>C	uc010pyd.1	+	6	4147	c.3922G>C	c.(3922-3924)GAC>CAC	p.D1308H	FMN2_uc010pye.1_Missense_Mutation_p.D1312H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1308	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TAATTTTAGAGACTCCAGTAC	0.269		NaN											0	0	0	0.013114	0	45	37				
OR2C3	81472	broad.mit.edu	37	1	247695441	247695441	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:247695441C>T	uc009xgy.2	-	2	735	c.373G>A	c.(373-375)GCT>ACT	p.A125T	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGATGGCAGCGTAGCGGTCA	0.562		NaN											0	0	0	0.004656	0	25	63				
ACBD7	414149	broad.mit.edu	37	10	15120593	15120593	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:15120593G>A	uc001inv.2	-	4	251	c.203C>T	c.(202-204)ACG>ATG	p.T68M	ACBD7_uc010qby.1_Intron	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	acyl-Coenzyme A binding domain containing 7	68	ACB.						fatty-acyl-CoA binding				0						CGCATCTTCCGTCGACAACCC	0.363		NaN											0	0	0	0.004007	0	14	48				
CUBN	8029	broad.mit.edu	37	10	16883004	16883004	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:16883004A>G	uc001ioo.2	-	61	9758	c.9706T>C	c.(9706-9708)TTT>CTT	p.F3236L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3236	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACCACAAAACGTTCCAGCC	0.368		NaN											0	0	0	0.007413	0	20	21				
VIM	7431	broad.mit.edu	37	10	17277194	17277194	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:17277194T>C	uc001iou.2	+	7	1448	c.1035T>C	c.(1033-1035)CGT>CGC	p.R345R	VIM_uc001iov.1_Silent_p.R345R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R345R|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R303R|VIM_uc001ipc.1_Silent_p.R345R	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	345	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCCAGATGCGTGAAATGGAAG	0.483		NaN											0	0	0	0.006122	0	17	43				
KIAA1217	56243	broad.mit.edu	37	10	24669846	24669846	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:24669846G>C	uc001iru.3	+	3	806	c.403G>C	c.(403-405)GAC>CAC	p.D135H	KIAA1217_uc001irs.2_Missense_Mutation_p.D55H|KIAA1217_uc001irt.3_Missense_Mutation_p.D135H|KIAA1217_uc010qcy.1_Missense_Mutation_p.D135H|KIAA1217_uc010qcz.1_Missense_Mutation_p.D135H|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	135					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CAGTCTGGGTGACCCGGTCGA	0.502		NaN											0	0	0	0.016723	0	13	46				
ARHGAP21	57584	broad.mit.edu	37	10	24910248	24910248	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:24910248A>C	uc001isb.2	-	9	1063	c.576T>G	c.(574-576)AAT>AAG	p.N192K	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.N192K|ARHGAP21_uc010qdc.1_Missense_Mutation_p.N27K|ARHGAP21_uc001isc.1_Missense_Mutation_p.N182K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	191					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TATTGCGGGCATTGCCGCTAT	0.463		NaN											0	0	0	0.001168	0	6	7				
SVIL	6840	broad.mit.edu	37	10	29760165	29760165	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:29760165A>T	uc001iut.1	-	31	6290	c.5537T>A	c.(5536-5538)GTT>GAT	p.V1846D	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.V760D|SVIL_uc001iuu.1_Missense_Mutation_p.V1420D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1846	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCCTGGAGAACCTGGACCTT	0.498		NaN											0	0	0	0.013537	0	12	10				
ZNF485	220992	broad.mit.edu	37	10	44111919	44111919	+	Missense_Mutation	SNP	C	C	T	rs138982373		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:44111919C>T	uc010qfc.1	+	5	622	c.428C>T	c.(427-429)TCG>TTG	p.S143L	ZNF485_uc010qfd.1_Missense_Mutation_p.S52L	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	143	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAATACAATTCGTCCTTTATT	0.413		NaN											0	0	0	0.00499	0	15	53				
NRBF2	29982	broad.mit.edu	37	10	64913495	64913495	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:64913495G>T	uc001jmj.3	+	4	605	c.381G>T	c.(379-381)CTG>CTT	p.L127L	NRBF2_uc010qip.1_Silent_p.L117L	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	127					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAAATGCCTGCCTGAGATTC	0.507		NaN											1	0	1.61879e-10	0.013537	1.76509e-10	12	25				
NODAL	4838	broad.mit.edu	37	10	72195635	72195635	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:72195635G>C	uc001jrc.2	-	2	340	c.298C>G	c.(298-300)CCT>GCT	p.P100A		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	100					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						AGGTCCACAGGGCTGGACAGC	0.572		NaN											0	0	0	0.010504	0	19	52				
KIAA1274	27143	broad.mit.edu	37	10	72293777	72293777	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:72293777G>T	uc001jrd.3	+	8	1251	c.970G>T	c.(970-972)GTC>TTC	p.V324F		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	324										ovary(2)|central_nervous_system(1)	3						CCTGGGCATGGTCCTGGGCAC	0.701		NaN											1	0	6.72482e-11	0.003163	7.37604e-11	15	12				
SEC24C	9632	broad.mit.edu	37	10	75523669	75523669	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:75523669T>A	uc001juw.2	+	9	1334	c.1155T>A	c.(1153-1155)TCT>TCA	p.S385S	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Silent_p.S243S|SEC24C_uc001jux.2_Silent_p.S385S|SEC24C_uc010qko.1_Silent_p.S266S|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	385					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					CTTGCACATCTGACATGGCTA	0.542		NaN											0	0	0	0.00499	0	17	9				
DUSP13	51207	broad.mit.edu	37	10	76867962	76867962	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:76867962G>A	uc001jws.2	-	2	210	c.155C>T	c.(154-156)ACG>ATG	p.T52M	DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_Translation_Start_Site|DUSP13_uc001jwt.2_Translation_Start_Site|DUSP13_uc001jwv.2_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	muscle-restricted dual specificity phosphatase	52	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTTGTTTGCCGTGGCCCTGGG	0.662		NaN											0	0	0	0.021523	0	21	39				
DLG5	9231	broad.mit.edu	37	10	79571722	79571722	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:79571722T>A	uc001jzk.2	-	22	4352	c.4282A>T	c.(4282-4284)AAC>TAC	p.N1428Y	DLG5_uc001jzi.2_Missense_Mutation_p.N183Y|DLG5_uc001jzj.2_Missense_Mutation_p.N843Y|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1428	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACGTGGGGGTTGTACTGGGCC	0.667		NaN											0	0	0	0.013726	0	31	19				
PAPSS2	9060	broad.mit.edu	37	10	89472929	89472929	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:89472929C>G	uc001kex.2	+	3	506	c.243C>G	c.(241-243)GTC>GTG	p.V81V	PAPSS2_uc001kew.2_Silent_p.V81V|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	81	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GGGACAATGTCCGTCATGGCC	0.517		NaN											0	0	0	0.01441	0	77	51				
SORBS1	10580	broad.mit.edu	37	10	97096652	97096652	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:97096652G>T	uc001kkp.2	-	28	3310	c.3265C>A	c.(3265-3267)CAA>AAA	p.Q1089K	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.Q1043K|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1089					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAGCTATCTTGGTGGATGCCT	0.562		NaN											1	0	2.00842e-17	0.010771	2.392e-17	39	19				
SLIT1	6585	broad.mit.edu	37	10	98807755	98807755	+	Splice_Site	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:98807755T>C	uc001kmw.2	-	15	1718	c.1466_splice	c.e15-1	p.A489_splice	SLIT1_uc009xvh.1_Splice_Site_p.A499_splice	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor						axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCTTTGGCTGGGAAGAGAA	0.597		NaN											0	0	0	0.010771	0	42	119				
HPS1	3257	broad.mit.edu	37	10	100185614	100185614	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:100185614C>T	uc010qpf.1	-	12	1362	c.1116G>A	c.(1114-1116)CTG>CTA	p.L372L	HPS1_uc001kpi.1_Silent_p.L372L|HPS1_uc001kpj.1_Silent_p.L279L|HPS1_uc001kpk.1_Intron|HPS1_uc010qpg.1_Silent_p.L4L|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	372					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCCACAGGGGCAGGCAGTACA	0.627		NaN							Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	22	85				
SH3PXD2A	9644	broad.mit.edu	37	10	105495534	105495534	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:105495534C>A	uc001kxj.1	-	4	402	c.262G>T	c.(262-264)GAC>TAC	p.D88Y	SH3PXD2A_uc010qqu.1_Missense_Mutation_p.D18Y	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	88	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACAGCTACGTCCCGGATGTGG	0.572		NaN											1	0	4.37601e-64	0.01441	6.2595e-64	107	63				
DCLRE1A	9937	broad.mit.edu	37	10	115596934	115596934	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:115596934C>G	uc001law.2	-	8	3767	c.2849G>C	c.(2848-2850)GGT>GCT	p.G950A		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	950					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTATTTCCCACCACACTTCTT	0.373		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.01441	0	43	43				
ATRNL1	26033	broad.mit.edu	37	10	116975551	116975551	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:116975551A>T	uc001lcg.2	+	9	1831	c.1445A>T	c.(1444-1446)TAT>TTT	p.Y482F		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	482	Kelch 4.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAGTCCATTTATGTTCATGGA	0.363		NaN											0	0	0	0.001984	0	7	27				
PNLIPRP3	119548	broad.mit.edu	37	10	118228771	118228771	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:118228771T>C	uc001lcl.3	+	9	1103	c.1002T>C	c.(1000-1002)AAT>AAC	p.N334N		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	334					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		ACTTCAAAAATATGAAGACTA	0.353		NaN											0	0	0	0.008361	0	29	16				
C10orf84	63877	broad.mit.edu	37	10	120095128	120095128	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:120095128T>C	uc001ldo.2	-	4	527	c.260A>G	c.(259-261)CAT>CGT	p.H87R	C10orf84_uc010qss.1_Missense_Mutation_p.H87R	NM_022063	NP_071346	Q9H8W3	F204A_HUMAN	hypothetical protein LOC63877	87											0		Colorectal(252;0.101)		all cancers(201;0.0244)		CTGTTCAGAATGTTTTTTATG	0.303		NaN											0	0	0	0.001984	0	5	36				
FAM175B	23172	broad.mit.edu	37	10	126519948	126519948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:126519948C>T	uc001lib.3	+	8	739	c.694C>T	c.(694-696)CGA>TGA	p.R232*		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	232	Potential.					BRISC complex	polyubiquitin binding				0						AAAGAGTGAGCGAGTTGTTGA	0.378		NaN											0	0	0	0.001168	0	6	44				
CTBP2	1488	broad.mit.edu	37	10	126683152	126683152	+	Silent	SNP	G	G	A	rs78653489		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:126683152G>A	uc009yak.2	-	7	953	c.666C>T	c.(664-666)GGC>GGT	p.G222G	CTBP2_uc009yal.2_Silent_p.G222G|CTBP2_uc001lif.3_Silent_p.G222G|CTBP2_uc001lih.3_Silent_p.G222G|CTBP2_uc001lid.3_Silent_p.G290G|CTBP2_uc001lie.3_Silent_p.G762G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	222					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCCTCTGCACGCCCAGGGACC	0.552		NaN											0	0	0	0.020292	0	14	94				
MKI67	4288	broad.mit.edu	37	10	129906934	129906934	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:129906934T>G	uc001lke.2	-	13	3365	c.3170A>C	c.(3169-3171)GAG>GCG	p.E1057A	MKI67_uc001lkf.2_Missense_Mutation_p.E697A|MKI67_uc009yav.1_Missense_Mutation_p.E632A|MKI67_uc009yaw.1_Missense_Mutation_p.E207A	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1057	16 X 122 AA approximate repeats.|1.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCTGCTGGCTCTCTGTGCGT	0.547		NaN											0	0	0	0.01441	0	172	115				
VENTX	27287	broad.mit.edu	37	10	135053570	135053570	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr10:135053570C>T	uc010quy.1	+	3	548	c.537C>T	c.(535-537)GGC>GGT	p.G179G		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	179					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TTGCCAATGGCCTGCAGCTGC	0.647		NaN											0	0	0	0.01892	0	22	53				
LRDD	55367	broad.mit.edu	37	11	800619	800619	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:800619C>A	uc001lro.1	-	12	2107	c.1965G>T	c.(1963-1965)GAG>GAT	p.E655D	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E655D|LRDD_uc001lrl.1_Missense_Mutation_p.E498D|LRDD_uc001lrm.1_Missense_Mutation_p.E342D|LRDD_uc001lrn.1_Missense_Mutation_p.E498D|LRDD_uc001lrp.1_Missense_Mutation_p.E317D	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	655					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTCAGAGGGCTCGGGGCCCC	0.677		NaN											1	0	4.75885e-15	0.00499	5.49098e-15	17	1				
MUC6	4588	broad.mit.edu	37	11	1018244	1018244	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:1018244G>C	uc001lsw.2	-	31	4608	c.4557C>G	c.(4555-4557)AAC>AAG	p.N1519K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1519	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGTGTTTTGTTTGTGCTGA	0.547		NaN											0	0	0	0.01441	0	121	11				
OR52N4	390072	broad.mit.edu	37	11	5775984	5775984	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:5775984A>C	uc001mbu.2	+	1	62	c.14A>C	c.(13-15)AAT>ACT	p.N5T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTAACACTGAATAAAACAGAC	0.358		NaN											0	0	0	0.00632	0	29	1				
OR56A1	120796	broad.mit.edu	37	11	6048854	6048854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:6048854G>T	uc010qzw.1	-	1	81	c.81C>A	c.(79-81)TTC>TTA	p.F27L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	27	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAACTCTGGAAGTTGGGGA	0.572		NaN											1	0	7.75977e-34	0.01441	1.04026e-33	64	5				
OR10A6	390093	broad.mit.edu	37	11	7949365	7949365	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:7949365G>T	uc010rbh.1	-	1	845	c.845C>A	c.(844-846)ACA>AAA	p.T282K		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCAGTGGTGTCAGAAGTGA	0.423		NaN											1	0	4.25531e-23	0.01441	5.30719e-23	49	8				
ZNF143	7702	broad.mit.edu	37	11	9522678	9522678	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:9522678G>T	uc001mhr.2	+	11	1126	c.1008G>T	c.(1006-1008)CGG>CGT	p.R336R	ZNF143_uc009yfu.2_Silent_p.R335R|ZNF143_uc010rby.1_Silent_p.R305R	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	336	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCTGCGGTCGGTCCTTTACAA	0.423		NaN											1	0	8.27458e-37	0.01441	1.12283e-36	71	10				
C11orf58	10944	broad.mit.edu	37	11	16776487	16776487	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:16776487C>A	uc001mmk.2	+	5	566	c.388C>A	c.(388-390)CCT>ACT	p.P130T	C11orf58_uc010rct.1_Missense_Mutation_p.P86T	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	130	Asp-rich.										0						tTCACCTGATCCTGAAAGTCC	0.393		NaN											1	0	1.2476e-16	0.00632	1.4701e-16	29	3				
OR8K5	219453	broad.mit.edu	37	11	55927213	55927213	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:55927213T>G	uc010rja.1	-	1	581	c.581A>C	c.(580-582)GAA>GCA	p.E194A		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAATTCTATTTCCTGTGCATT	0.333		NaN											0	0	0	0.001984	0	7	61				
OR5T1	390155	broad.mit.edu	37	11	56043760	56043760	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:56043760G>T	uc001nio.1	+	1	646	c.646G>T	c.(646-648)GGC>TGC	p.G216C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					CTACTTTGTGGGCTCTATTGA	0.408		NaN											1	0	1.14856e-27	0.01441	1.48245e-27	76	113				
FAM111B	374393	broad.mit.edu	37	11	58893494	58893494	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:58893494G>C	uc001nnl.2	+	4	2167	c.1924G>C	c.(1924-1926)GAT>CAT	p.D642H	FAM111B_uc001nnm.2_Missense_Mutation_p.D612H|FAM111B_uc010rko.1_Missense_Mutation_p.D612H	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	642							catalytic activity			ovary(2)	2						GCTTAGTTATGATACTTGTTT	0.413		NaN											0	0	0	0.006999	0	35	41				
ZP1	22917	broad.mit.edu	37	11	60635046	60635046	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:60635046C>G	uc001nqd.2	+	1	32	c.12C>G	c.(10-12)GGC>GGG	p.G4G	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	4					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						TGGCAGGAGGCTCAGCCACGA	0.667		NaN											0	0	0	0.015359	0	32	31				
MTA2	9219	broad.mit.edu	37	11	62363785	62363785	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:62363785C>G	uc001ntq.1	-	11	1363	c.982G>C	c.(982-984)GAC>CAC	p.D328H	MTA2_uc010rlx.1_Missense_Mutation_p.D155H	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	328					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AGTTTGCTGTCTGCTTCAGCA	0.468		NaN											0	0	0	0.01892	0	21	23				
SIPA1	6494	broad.mit.edu	37	11	65417137	65417137	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:65417137G>C	uc001ofb.2	+	11	2798	c.2631G>C	c.(2629-2631)CTG>CTC	p.L877L	SIPA1_uc010rom.1_Silent_p.L775L|SIPA1_uc001ofd.2_Silent_p.L877L	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	877					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						AGACACCCCTGACCCAGGTGA	0.607		NaN											0	0	0	0.01441	0	68	65				
PAAF1	80227	broad.mit.edu	37	11	73625498	73625498	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:73625498G>C	uc001ouk.1	+	8	802	c.768G>C	c.(766-768)TTG>TTC	p.L256F	PAAF1_uc001oul.1_Missense_Mutation_p.L239F|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.L239F	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	256					interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					TGCTGCTCTTGGCCCGGGAAG	0.498		NaN											0	0	0	0.013726	0	28	46				
C11orf30	56946	broad.mit.edu	37	11	76255837	76255837	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:76255837G>A	uc001oxl.2	+	19	3387	c.3244G>A	c.(3244-3246)GCT>ACT	p.A1082T	C11orf30_uc001oxm.2_Missense_Mutation_p.A984T|C11orf30_uc010rsb.1_Missense_Mutation_p.A1097T|C11orf30_uc010rsc.1_Missense_Mutation_p.A1083T|C11orf30_uc001oxn.2_Missense_Mutation_p.A1083T|C11orf30_uc010rsd.1_Missense_Mutation_p.A991T|C11orf30_uc001oxo.1_Missense_Mutation_p.A436T|C11orf30_uc010rse.1_Missense_Mutation_p.A329T|C11orf30_uc001oxp.2_Missense_Mutation_p.A182T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1082	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GTCGCTCCCAGCTTCTTCAGA	0.478		NaN											0	0	0	0.01441	0	49	55				
MTNR1B	4544	broad.mit.edu	37	11	92715238	92715238	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:92715238C>G	uc001pdk.1	+	2	952	c.849C>G	c.(847-849)CCC>CCG	p.P283P		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	283	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AAATGGCTCCCCAGATCCCTG	0.498		NaN											0	0	0	0.01441	0	116	172				
MAML2	84441	broad.mit.edu	37	11	95712374	95712374	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:95712374T>C	uc001pfw.1	-	5	4494	c.3209A>G	c.(3208-3210)AAT>AGT	p.N1070S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1070					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTCGACTGATTCAACCCTGT	0.512		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								0	0	0	0.007291	0	27	29				
MMP20	9313	broad.mit.edu	37	11	102477386	102477386	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:102477386C>T	uc001phc.2	-	6	846	c.833G>A	c.(832-834)GGG>GAG	p.G278E		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	278					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AGTGGGCTTCCCCAGGAATAC	0.537		NaN											0	0	0	0.012213	0	6	50				
MMP10	4319	broad.mit.edu	37	11	102647046	102647046	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:102647046G>T	uc001phg.1	-	6	919	c.897C>A	c.(895-897)AGC>AGA	p.S299R		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	299	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCCTCAGAGTGCTGATGGCAT	0.438		NaN											1	0	2.47316e-13	0.015359	2.80123e-13	30	51				
KIAA1826	84437	broad.mit.edu	37	11	105880543	105880543	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:105880543C>G	uc001piy.2	-	3	930	c.757G>C	c.(757-759)GAG>CAG	p.E253Q	KIAA1826_uc001piz.2_Missense_Mutation_p.E253Q	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	253	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CGCTCCTTCTCTAGCTGAAGC	0.463		NaN											0	0	0	0.01441	0	63	67				
ATM	472	broad.mit.edu	37	11	108206598	108206598	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:108206598T>A	uc001pkb.1	+	56	8563	c.8178T>A	c.(8176-8178)GCT>GCA	p.A2726A	ATM_uc009yxr.1_Silent_p.A2726A|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.A1378A	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2726	PI3K/PI4K.		A -> V (in AT).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GACAAGATGCTGTCATGCAAC	0.348		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.010504	0	20	21				
APOA4	337	broad.mit.edu	37	11	116692251	116692251	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:116692251G>C	uc001pps.1	-	3	627	c.523C>G	c.(523-525)CTG>GTG	p.L175V		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGGCCTGCAGGCTGTCGGCG	0.672		NaN											0	0	0	0.01441	0	119	122				
DSCAML1	57453	broad.mit.edu	37	11	117301499	117301499	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:117301499C>A	uc001prh.1	-	32	5807	c.5805G>T	c.(5803-5805)AAG>AAT	p.K1935N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1875	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CATCCTGGGGCTTGGGTGGTG	0.637		NaN											1	0	1.59228e-47	0.01441	2.20929e-47	93	126				
ROBO3	64221	broad.mit.edu	37	11	124738754	124738754	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:124738754C>A	uc001qbc.2	+	2	409	c.217C>A	c.(217-219)CTG>ATG	p.L73M		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	73	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCCGCCAGATCTGCTGGTCTC	0.667		NaN											1	0	2.17888e-05	0.006214	2.23526e-05	9	19				
PKNOX2	63876	broad.mit.edu	37	11	125221258	125221258	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:125221258C>A	uc001qbu.2	+	4	371	c.57C>A	c.(55-57)GTC>GTA	p.V19V	PKNOX2_uc010saz.1_Intron|PKNOX2_uc010sba.1_Intron|PKNOX2_uc010sbb.1_Missense_Mutation_p.S2Y	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	19						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCAGAATGTCCCGCCCCCAC	0.657		NaN											1	0	1.08611e-07	0.010729	1.14381e-07	11	14				
PUS3	83480	broad.mit.edu	37	11	125765537	125765537	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:125765537C>A	uc001qcy.2	-	3	624	c.526G>T	c.(526-528)GCC>TCC	p.A176S	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	176						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGGGCCCAGGCCAATATACGG	0.478		NaN											1	0	2.26627e-22	0.007835	2.82014e-22	44	37				
LRTM2	654429	broad.mit.edu	37	12	1940231	1940231	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:1940231G>A	uc001qjt.2	+	4	1004	c.198G>A	c.(196-198)GTG>GTA	p.V66V	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.V66V|LRTM2_uc010sdx.1_Silent_p.V66V|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	66	LRRNT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCCCAGACGTGCCCGCAGCCA	0.642		NaN											0	0	0	0.01441	0	94	79				
TAS2R9	50835	broad.mit.edu	37	12	10962143	10962143	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:10962143A>T	uc001qyx.2	-	1	625	c.532T>A	c.(532-534)TTC>ATC	p.F178I	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	178	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						AACTGTTTGAAAGTACCTGGA	0.378		NaN											0	0	0	0.00632	0	26	54				
SLCO1B3	28234	broad.mit.edu	37	12	21007999	21007999	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:21007999A>T	uc001rek.2	+	3	248	c.122A>T	c.(121-123)AAA>ATA	p.K41I	SLCO1B3_uc001rel.2_Missense_Mutation_p.K41I|SLCO1B3_uc010sil.1_Missense_Mutation_p.K41I|LST-3TM12_uc010sim.1_Missense_Mutation_p.K41I	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	41	Helical; Name=1; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TATATTGCTAAAGCACTAGGT	0.318		NaN											0	0	0	0.004007	0	15	20				
CAPRIN2	65981	broad.mit.edu	37	12	30863342	30863342	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:30863342C>A	uc001rji.1	-	18	3629	c.2878G>T	c.(2878-2880)GGT>TGT	p.G960C	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.G627C|CAPRIN2_uc001rjh.1_Missense_Mutation_p.G910C|CAPRIN2_uc001rjj.1_Missense_Mutation_p.G626C|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	960					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCAGAGTCACCACTGTTAAAG	0.502		NaN											1	0	7.93641e-56	0.01441	1.12365e-55	153	149				
CPNE8	144402	broad.mit.edu	37	12	39071345	39071345	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:39071345G>A	uc001rls.1	-	17	1367	c.1283C>T	c.(1282-1284)TCT>TTT	p.S428F	CPNE8_uc001rlr.1_Missense_Mutation_p.S87F	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	428	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATCCTTTACAGAAGAAGCATA	0.363		NaN											0	0	0	0.020292	0	15	29				
TMBIM6	7009	broad.mit.edu	37	12	50152022	50152022	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:50152022G>A	uc001rux.2	+	5	431	c.299G>A	c.(298-300)GGC>GAC	p.G100D	TMBIM6_uc010sml.1_Missense_Mutation_p.G100D|TMBIM6_uc001ruy.2_Missense_Mutation_p.G158D|TMBIM6_uc001ruz.2_Missense_Mutation_p.G100D	NM_003217	NP_003208	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	100	Helical; (Potential).				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0						GTTGGCCTGGGCCCTGCCCTG	0.408		NaN											0	0	0	0.01441	0	66	94				
KRT83	3889	broad.mit.edu	37	12	52709714	52709714	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:52709714C>A	uc001saf.2	-	7	1288	c.1225G>T	c.(1225-1227)GCC>TCC	p.A409S		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	409	Rod.|Coil 2.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATA	0.597		NaN											1	0	1.98135e-44	0.01441	2.72866e-44	62	68				
KRT2	3849	broad.mit.edu	37	12	53039197	53039197	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:53039197G>A	uc001sat.2	-	9	1559	c.1526C>T	c.(1525-1527)TCA>TTA	p.S509L		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	509	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CACATTTGATGAAATGGTGCT	0.537		NaN											0	0	0	0.01441	0	68	68				
ITGA5	3678	broad.mit.edu	37	12	54799117	54799117	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:54799117C>T	uc001sga.2	-	12	1126	c.1058G>A	c.(1057-1059)CGG>CAG	p.R353Q	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	353	Extracellular (Potential).|FG-GAP 5.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						GTCAGGGGTCCGATCCATGAG	0.652		NaN											0	0	0	0.00632	0	25	12				
NCKAP1L	3071	broad.mit.edu	37	12	54911366	54911366	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:54911366G>T	uc001sgc.3	+	12	1224	c.1145G>T	c.(1144-1146)TGG>TTG	p.W382L	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.W332L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	382					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GAGGTCACCTGGCTGGTTCGC	0.448		NaN											1	0	3.86236e-30	0.01441	5.11602e-30	42	43				
KIAA0748	9840	broad.mit.edu	37	12	55357674	55357674	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:55357674G>T	uc001sgn.3	-	8	617	c.507C>A	c.(505-507)GGC>GGA	p.G169G	KIAA0748_uc001sgl.3_Silent_p.G31G|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Silent_p.G31G|KIAA0748_uc010spd.1_Silent_p.G169G|KIAA0748_uc001sgo.3_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	169										ovary(1)|central_nervous_system(1)	2						CTTGGCCAAAGCCCAGACTGA	0.478		NaN											1	0	7.07328e-35	0.01441	9.50526e-35	68	64				
SILV	6490	broad.mit.edu	37	12	56349451	56349451	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:56349451A>C	uc001sip.2	-	9	1590	c.1559T>G	c.(1558-1560)CTG>CGG	p.L520R	SILV_uc001siq.2_Missense_Mutation_p.L520R|SILV_uc010spx.1_Missense_Mutation_p.L434R|SILV_uc001sir.2_Missense_Mutation_p.L520R	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	520	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						TTCCTTGGGCAGCCTGGAAGA	0.577		NaN											0	0	0	0.012213	0	30	42				
IL23A	51561	broad.mit.edu	37	12	56733306	56733306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:56733306C>T	uc001sla.2	+	2	425	c.259C>T	c.(259-261)CAG>TAG	p.Q87*		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19 precursor	87					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity				0						GGACAACAGTCAGGTACCACT	0.493		NaN											0	0	0	0.004656	0	25	28				
PIP4K2C	79837	broad.mit.edu	37	12	57989742	57989742	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:57989742G>C	uc001sou.2	+	4	572	c.441G>C	c.(439-441)CGG>CGC	p.R147R	PIP4K2C_uc001sot.2_Silent_p.R147R|PIP4K2C_uc010srs.1_Silent_p.R129R|PIP4K2C_uc010srt.1_Intron	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	147	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					CCTACGATCGGACTCTGGTCA	0.522		NaN											0	0	0	0.01441	0	52	85				
BEST3	144453	broad.mit.edu	37	12	70070774	70070774	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:70070774G>A	uc001svg.2	-	7	1016	c.789C>T	c.(787-789)GGC>GGT	p.G263G	BEST3_uc001svd.1_Silent_p.G263G|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.G157G|BEST3_uc001svh.2_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	263	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCCTGCGTAGCCTTTGGTGG	0.502		NaN											0	0	0	0.01441	0	59	49				
PPFIA2	8499	broad.mit.edu	37	12	81688795	81688795	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:81688795G>A	uc001szo.1	-	24	2905	c.2744C>T	c.(2743-2745)GCG>GTG	p.A915V	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	841										ovary(3)|lung(2)|pancreas(1)	6						CACGTACCACGCAGGCATTCC	0.348		NaN											0	0	0	0.004482	0	8	28				
CEP290	80184	broad.mit.edu	37	12	88530508	88530508	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:88530508C>T	uc001tar.2	-	6	697	c.353G>A	c.(352-354)TGC>TAC	p.C118Y	CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	118	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TTCAAGTTGGCAAATTTCATT	0.338		NaN											0	0	0	0.007413	0	20	38				
FGD6	55785	broad.mit.edu	37	12	95485582	95485582	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:95485582C>T	uc001tdp.3	-	17	3975	c.3751G>A	c.(3751-3753)GTA>ATA	p.V1251I	FGD6_uc009zsx.2_Missense_Mutation_p.V384I|FGD6_uc001tdq.1_Missense_Mutation_p.V287I	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1251	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						GCTTGGCATACAATCTGAAAA	0.328		NaN											0	0	0	0.004482	0	9	25				
PAH	5053	broad.mit.edu	37	12	103288653	103288653	+	Missense_Mutation	SNP	C	C	T	rs62508695		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:103288653C>T	uc001tjq.1	-	4	684	c.212G>A	c.(211-213)CGT>CAT	p.R71H	PAH_uc010swc.1_Missense_Mutation_p.R71H	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	71	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTTTAAACGAGAAGGTCT	0.443		NaN											0	0	0	0.016522	0	23	89				
HSP90B1	7184	broad.mit.edu	37	12	104327817	104327817	+	Silent	SNP	C	C	T	rs144387251	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:104327817C>T	uc001tkb.1	+	5	600	c.495C>T	c.(493-495)ACC>ACT	p.T165T	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Silent_p.T165T	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	165					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	ACCTTGGTACCATAGCCAAAT	0.438		NaN											0	0	0	0.012213	0	31	50				
ALDH1L2	160428	broad.mit.edu	37	12	105459055	105459055	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:105459055A>T	uc001tlc.2	-	6	903	c.776T>A	c.(775-777)ATA>AAA	p.I259K	ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	259					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						CTGTCCATTTATCTCTGTCCA	0.458		NaN											0	0	0	0.012213	0	32	51				
PITPNM2	57605	broad.mit.edu	37	12	123481053	123481053	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr12:123481053C>A	uc001uej.1	-	12	1873	c.1734G>T	c.(1732-1734)GTG>GTT	p.V578V	PITPNM2_uc001uek.1_Silent_p.V578V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	578					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GACTCTCAGACACCGGCTGGT	0.652		NaN											1	0	1.1804e-14	0.021523	1.35917e-14	23	48				
XPO4	64328	broad.mit.edu	37	13	21374421	21374421	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:21374421C>T	uc001unq.3	-	15	2057	c.2021G>A	c.(2020-2022)GGT>GAT	p.G674D		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	674					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCACTGAGAACCCTCTGTATC	0.413		NaN											0	0	0	0.010771	0	40	45				
KL	9365	broad.mit.edu	37	13	33591101	33591101	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:33591101C>G	uc001uus.2	+	1	531	c.523C>G	c.(523-525)CGC>GGC	p.R175G	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	175	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTACTACCGGCGCCTGCTGGA	0.726		NaN											0	0	0	0.013537	0	11	16				
LRCH1	23143	broad.mit.edu	37	13	47243194	47243194	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:47243194G>C	uc001vbj.2	+	3	718	c.482G>C	c.(481-483)TGC>TCC	p.C161S	LRCH1_uc010acp.2_Missense_Mutation_p.C161S|LRCH1_uc001vbk.2_Missense_Mutation_p.C161S|LRCH1_uc001vbl.3_Missense_Mutation_p.C161S	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	161	LRR 3.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTGCCTGCCTGCCTGTGTGGT	0.443		NaN											0	0	0	0.01441	0	82	107				
NEK5	341676	broad.mit.edu	37	13	52663442	52663442	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:52663442C>T	uc001vge.2	-	14	1356	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	406							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGAAGGTACTCAGCAGGCCTT	0.333		NaN											0	0	0	0.00308	0	8	14				
DIAPH3	81624	broad.mit.edu	37	13	60686272	60686272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:60686272G>A	uc001vht.2	-	3	481	c.262C>T	c.(262-264)CCT>TCT	p.P88S	DIAPH3_uc001vhw.1_Missense_Mutation_p.P77S|DIAPH3_uc010aed.1_Missense_Mutation_p.P77S|DIAPH3_uc010aee.1_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	88					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAAGTGGAGGTCTCTCTTTC	0.438		NaN											0	0	0	0.01441	0	97	129				
DZIP1	22873	broad.mit.edu	37	13	96277135	96277135	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:96277135C>G	uc001vmk.2	-	8	1711	c.859G>C	c.(859-861)GAC>CAC	p.D287H	DZIP1_uc001vml.2_Missense_Mutation_p.D287H	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	287	Potential.				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCCACCTGTCAAATAACTTC	0.294		NaN											0	0	0	0.009096	0	4	15				
DOCK9	23348	broad.mit.edu	37	13	99532221	99532221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:99532221G>T	uc001vnt.2	-	27	2932	c.2877C>A	c.(2875-2877)TAC>TAA	p.Y959*	DOCK9_uc001vnw.2_Nonsense_Mutation_p.Y958*|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010tis.1_Nonsense_Mutation_p.Y958*|DOCK9_uc010tit.1_Nonsense_Mutation_p.Y959*|DOCK9_uc010afu.1_Nonsense_Mutation_p.Y805*	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	959					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAACCATGAGTACTAAAAGA	0.239		NaN											1	0	2.35188e-11	0.006122	2.61582e-11	18	21				
NALCN	259232	broad.mit.edu	37	13	102029296	102029296	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:102029296G>T	uc001vox.1	-	5	676	c.487C>A	c.(487-489)CCA>ACA	p.P163T	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P163T|NALCN_uc001vpa.2_Missense_Mutation_p.P163T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	163	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGTCCTTGGCAGTTCAAAT	0.378		NaN											1	0	2.41591e-17	0.004656	2.87116e-17	27	36				
ERCC5	2073	broad.mit.edu	37	13	103510737	103510737	+	Missense_Mutation	SNP	G	G	A	rs146833751	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:103510737G>A	uc001vpw.2	+	6	1084	c.641G>A	c.(640-642)CGC>CAC	p.R214H	ERCC5_uc001vpu.1_Missense_Mutation_p.R668H|ERCC5_uc010tjb.1_Missense_Mutation_p.R214H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R46H	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	214					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCACCAAGCGCAGAAGAACA	0.383		NaN	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.010504	0	20	104				
F10	2159	broad.mit.edu	37	13	113803477	113803477	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr13:113803477C>A	uc001vsx.2	+	8	1170	c.1113C>A	c.(1111-1113)GGC>GGA	p.G371G	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	371	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGAGAAGGGCCGGCAGTCCA	0.637		NaN											1	0	1.06801e-11	0.009535	1.19505e-11	31	37				
OR4K17	390436	broad.mit.edu	37	14	20586121	20586121	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:20586121C>G	uc001vwo.1	+	1	556	c.556C>G	c.(556-558)CAC>GAC	p.H186D		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGGTCTCCTTCACTCAGGGTT	0.453		NaN											0	0	0	0.01441	0	60	94				
TEP1	7011	broad.mit.edu	37	14	20876347	20876347	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:20876347T>A	uc001vxe.2	-	2	292	c.252A>T	c.(250-252)ACA>ACT	p.T84T	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T84T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	84	TEP1 N-terminal 3.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTCAGAAAGTGTGGCCAGGC	0.552		NaN											0	0	0	0.01441	0	75	69				
RNASE9	390443	broad.mit.edu	37	14	21024720	21024720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:21024720C>T	uc010aho.2	-	4	668	c.509G>A	c.(508-510)TGG>TAG	p.W170*	RNASE9_uc001vxq.3_Nonsense_Mutation_p.W175*|RNASE9_uc010ahp.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahq.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahr.2_Nonsense_Mutation_p.W175*|RNASE9_uc010ahs.2_Nonsense_Mutation_p.W170*|RNASE9_uc010aht.2_Nonsense_Mutation_p.W170*|RNASE9_uc010ahu.2_Nonsense_Mutation_p.W170*	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	170						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTCATTTTGCCATGAACAAGT	0.383		NaN											0	0	0	0.003163	0	14	17				
TGM1	7051	broad.mit.edu	37	14	24723917	24723917	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:24723917C>A	uc001wod.2	-	13	2165	c.2041G>T	c.(2041-2043)GCC>TCC	p.A681S	TGM1_uc010tog.1_Missense_Mutation_p.A239S	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	681					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCTGCTTGGCCAGCACCTGC	0.627		NaN											1	0	1.7104e-27	0.01441	2.20248e-27	62	77				
SCFD1	23256	broad.mit.edu	37	14	31119826	31119826	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:31119826C>T	uc001wqm.1	+	9	749	c.725C>T	c.(724-726)ACA>ATA	p.T242I	SCFD1_uc001wqn.1_Missense_Mutation_p.T175I|SCFD1_uc010tpg.1_Missense_Mutation_p.T183I|SCFD1_uc010tph.1_Missense_Mutation_p.T57I|SCFD1_uc010amf.1_Missense_Mutation_p.T57I|SCFD1_uc010tpi.1_Missense_Mutation_p.T150I|SCFD1_uc010amd.1_Missense_Mutation_p.T74I|SCFD1_uc010ame.1_Missense_Mutation_p.T175I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	242					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCTTTTTACAGGTGATACA	0.289		NaN											0	0	0	0.007291	0	23	40				
MIPOL1	145282	broad.mit.edu	37	14	37777260	37777260	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:37777260G>C	uc001wuc.2	+	9	1127	c.624_splice	c.e9-1	p.V208_splice	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Splice_Site_p.V177_splice|MIPOL1_uc001wud.2_Splice_Site_p.V208_splice|MIPOL1_uc010ams.2_Splice_Site_p.V208_splice|MIPOL1_uc001wue.2_Splice_Site_p.V177_splice|MIPOL1_uc010amt.2_Splice_Site_p.V27_splice	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1											ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CTTTTTTCTAGGCTAGAAAAT	0.358		NaN											0	0	0	0.006999	0	38	56				
CLEC14A	161198	broad.mit.edu	37	14	38723983	38723983	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:38723983C>G	uc001wum.1	-	1	1592	c.1245G>C	c.(1243-1245)ATG>ATC	p.M415I		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	415	Helical; (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGTACTGTCATGGTCAAGA	0.557		NaN											0	0	0	0.013726	0	33	29				
EXOC5	10640	broad.mit.edu	37	14	57689135	57689135	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:57689135C>A	uc001xct.2	-	13	1548	c.1297_splice	c.e13-1	p.L433_splice	EXOC5_uc001xcs.2_Splice_Site_p.L112_splice|EXOC5_uc010trg.1_Splice_Site_p.L378_splice|EXOC5_uc010trh.1_Splice_Site_p.L368_splice	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein						exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						GATCAGAGAGCTTAAAAACAA	0.308		NaN											1	0	1.96895e-08	0.016522	2.08543e-08	22	31				
C14orf115	55237	broad.mit.edu	37	14	74824202	74824202	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:74824202C>A	uc001xpw.3	+	2	907	c.716C>A	c.(715-717)CCT>CAT	p.P239H		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	239					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TACTTTGCCCCTGTGGTGGGG	0.687		NaN											1	0	3.28156e-27	0.01441	4.20615e-27	46	76				
FLVCR2	55640	broad.mit.edu	37	14	76107313	76107313	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:76107313C>A	uc001xrs.2	+	7	1627	c.1251C>A	c.(1249-1251)GGC>GGA	p.G417G	FLVCR2_uc010tvd.1_Silent_p.G212G	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	417	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTATGACTGGCTATCTCCCAC	0.532		NaN											1	0	1.57351e-24	0.017118	1.98027e-24	35	58				
EML5	161436	broad.mit.edu	37	14	89148328	89148328	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:89148328C>T	uc001xxg.2	-	22	3216	c.3030G>A	c.(3028-3030)CTG>CTA	p.L1010L	EML5_uc001xxh.1_Silent_p.L149L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1010	WD 16.					cytoplasm|microtubule				ovary(3)	3						CACAGATGGGCAGATAAGGGT	0.408		NaN											0	0	0	0.011902	0	44	54				
ATXN3	4287	broad.mit.edu	37	14	92555107	92555107	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:92555107G>C	uc001yac.3	-	6	511	c.442C>G	c.(442-444)CTT>GTT	p.L148V	ATXN3_uc010aug.2_Missense_Mutation_p.L133V|ATXN3_uc001yad.3_Missense_Mutation_p.L93V|ATXN3_uc010auh.2_Missense_Mutation_p.L82V|ATXN3_uc001yae.3_Missense_Mutation_p.L50V|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	148	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAAAGTGCAAGATATGTATCT	0.323		NaN											0	0	0	0.01441	0	127	144				
DYNC1H1	1778	broad.mit.edu	37	14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:102498707C>A	uc001yks.2	+	52	10146	c.9982C>A	c.(9982-9984)CTG>ATG	p.L3328M		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3328	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTGCCTGCTGCTGGGGGAAAG	0.577		NaN											1	0	4.99412e-61	0.01441	7.12528e-61	186	115				
ZNF839	55778	broad.mit.edu	37	14	102792535	102792535	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:102792535G>C	uc001ylo.2	+	2	504	c.154G>C	c.(154-156)GAC>CAC	p.D52H	ZNF839_uc010awk.1_Missense_Mutation_p.D168H|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.D52H|ZNF839_uc001ylr.2_Missense_Mutation_p.D52H	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	52						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTTCCTAAGTGACTTATGCCA	0.607		NaN											0	0	0	0.006999	0	38	17				
KIF26A	26153	broad.mit.edu	37	14	104642734	104642734	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:104642734C>G	uc001yos.3	+	12	3609	c.3609C>G	c.(3607-3609)GCC>GCG	p.A1203A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1203					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CATCCGCAGCCCAGACCATCC	0.736		NaN											0	0	0	0.00499	0	16	20				
INF2	64423	broad.mit.edu	37	14	105174812	105174812	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:105174812C>A	uc001ypb.2	+	9	1918	c.1775C>A	c.(1774-1776)GCC>GAC	p.A592D	INF2_uc010tyi.1_Missense_Mutation_p.A592D|INF2_uc001ypc.2_Missense_Mutation_p.A592D|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	592	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCCCCGACGCCGAGGCTGTG	0.682		NaN									OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.34159e-35	0.01441	1.80724e-35	61	62				
KIAA0284	283638	broad.mit.edu	37	14	105354104	105354104	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:105354104G>C	uc010axb.2	+	12	3752	c.3528G>C	c.(3526-3528)CGG>CGC	p.R1176R	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1106R|KIAA0284_uc001yps.2_Silent_p.R1082R|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1176						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCCGGAAGCGGGCCGGCTCCT	0.697		NaN											0	0	0	0.008291	0	10	6				
OTUD7A	161725	broad.mit.edu	37	15	31776332	31776332	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:31776332A>G	uc001zfq.2	-	11	2039	c.1946T>C	c.(1945-1947)TTC>TCC	p.F649S	OTUD7A_uc001zfr.2_Missense_Mutation_p.F656S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	649						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTCCTCGTGGAACTGGTGCCG	0.592		NaN											0	0	0	0.012319	0	17	32				
EIF3J	8669	broad.mit.edu	37	15	44829435	44829435	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:44829435G>C	uc001ztv.2	+	1	170	c.43G>C	c.(43-45)GAC>CAC	p.D15H	uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Missense_Mutation_p.D15H|EIF3J_uc001ztw.2_Missense_Mutation_p.D15H	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	15	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGACTCCTGGGGTGAGGAGAA	0.483		NaN											0	0	0	0.004482	0	8	10				
SLC12A1	6557	broad.mit.edu	37	15	48561931	48561931	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:48561931C>A	uc001zwn.3	+	19	2588	c.2372C>A	c.(2371-2373)ACA>AAA	p.T791K	SLC12A1_uc010uew.1_Missense_Mutation_p.T597K|SLC12A1_uc010bem.2_Missense_Mutation_p.T791K|SLC12A1_uc001zwq.3_Missense_Mutation_p.T562K|SLC12A1_uc001zwr.3_Missense_Mutation_p.T518K	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	791					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTCCCTTGACAGAGATTGAG	0.408		NaN											1	0	4.3838e-07	0.016723	4.58194e-07	13	16				
ATP8B4	79895	broad.mit.edu	37	15	50211048	50211048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:50211048C>A	uc001zxu.2	-	19	2165	c.2023G>T	c.(2023-2025)GGA>TGA	p.G675*	ATP8B4_uc010ber.2_Nonsense_Mutation_p.G548*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.G485*|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	675	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTTTGTCTCCTGTTAGGACC	0.343		NaN											1	0	1.90571e-15	0.019004	2.20808e-15	33	45				
UNC13C	440279	broad.mit.edu	37	15	54803976	54803976	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:54803976A>G	uc002ack.2	+	22	5405	c.5405A>G	c.(5404-5406)CAA>CGA	p.Q1802R		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1802					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAATATTCAACAATTGCGG	0.313		NaN											0	0	0	0.010729	0	11	5				
NEDD4	4734	broad.mit.edu	37	15	56152722	56152722	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:56152722G>T	uc002adj.2	-	7	2400	c.2100C>A	c.(2098-2100)GCC>GCA	p.A700A	NEDD4_uc002adl.2_Silent_p.A281A|NEDD4_uc002adi.2_Silent_p.A628A|NEDD4_uc010ugj.1_Silent_p.A684A|NEDD4_uc010bfm.2_Silent_p.A683A|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	700	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTGATGGGAAGGCCTGGTTGC	0.423		NaN											1	0	5.50884e-06	0.013537	5.68291e-06	11	66				
VPS13C	54832	broad.mit.edu	37	15	62146695	62146695	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:62146695C>A	uc002agz.2	-	85	11297	c.11223G>T	c.(11221-11223)CAG>CAT	p.Q3741H	VPS13C_uc002aha.2_Missense_Mutation_p.Q3698H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3741					protein localization					ovary(2)	2						TCACTGATGACTGCTTCATCA	0.398		NaN											1	0	1.37143e-49	0.01441	1.92209e-49	112	135				
CSPG4	1464	broad.mit.edu	37	15	75981330	75981330	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:75981330G>A	uc002baw.2	-	3	2169	c.2076C>T	c.(2074-2076)GCC>GCT	p.A692A		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	692	CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCTGCCCCACGGCATTGGTCT	0.662		NaN											0	0	0	0.01441	0	57	84				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:78290635C>T	uc002bcy.3	-	13	2759	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	920						intracellular	protein binding|Rab GTPase activator activity	p.D903N(1)		ovary(1)|large_intestine(1)|breast(1)	3						GTAGGCGCGTCGGTTCCGGAT	0.617		NaN											0	0	0	0.001168	0	3	20				
ZNF774	342132	broad.mit.edu	37	15	90897897	90897897	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:90897897G>C	uc002bpk.3	+	2	191	c.5G>C	c.(4-6)TGG>TCG	p.W2S		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	2	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGATAATGTGGCTGGGGACT	0.483		NaN											0	0	0	0.008291	0	10	11				
RCCD1	91433	broad.mit.edu	37	15	91500713	91500713	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:91500713G>A	uc002bqj.2	+	4	817	c.537G>A	c.(535-537)GTG>GTA	p.V179V	RCCD1_uc002bqk.2_Silent_p.V179V|RCCD1_uc002bql.2_Silent_p.V179V|RCCD1_uc010bob.2_Intron	NM_033544	NP_291022	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	179	RCC1 2.			RLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLL DAAGQVFSWGGGR -> GGAAGGLVRLRFLRLRAGAGLRTR APGAQPQSAAGGRRHLPRERELELHRFRDP (in Ref. 3; AAI13827).							0	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CTGGCCAGGTGTTCTCCTGGG	0.706		NaN											0	0	0	0.009096	0	3	5				
NR2F2	7026	broad.mit.edu	37	15	96877679	96877679	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr15:96877679G>T	uc010uri.1	+	2	2041	c.817G>T	c.(817-819)GCC>TCC	p.A273S	NR2F2_uc002btp.2_Missense_Mutation_p.A140S|NR2F2_uc010urj.1_Missense_Mutation_p.A120S|NR2F2_uc010urk.1_Missense_Mutation_p.A120S	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	273	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGGCCGCCGCCGGCCTGCA	0.652		NaN											1	0	4.65686e-17	0.017118	5.51079e-17	36	50				
SOX8	30812	broad.mit.edu	37	16	1034810	1034810	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:1034810G>T	uc002ckn.2	+	3	880	c.765G>T	c.(763-765)GGG>GGT	p.G255G		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	255					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				TGGACAGCGGGCGCCAGAACA	0.682		NaN											1	0	3.65163e-15	0.00632	4.2222e-15	28	21				
PKD1	5310	broad.mit.edu	37	16	2168842	2168842	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:2168842G>A	uc002cos.1	-	4	573	c.364C>T	c.(364-366)CTG>TTG	p.L122L	PKD1_uc002cot.1_Silent_p.L122L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	122	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TTCCCACTCAGGTTTCTGCAG	0.682		NaN											0	0	0	0.006214	0	8	38				
ZSCAN10	84891	broad.mit.edu	37	16	3140433	3140433	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:3140433C>A	uc002ctv.1	-	5	925	c.837G>T	c.(835-837)GTG>GTT	p.V279V	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.V197V|ZSCAN10_uc002ctx.1_Silent_p.V207V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	279					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CGCCCTCAGCCACTTTGACCT	0.652		NaN											1	0	1.70349e-48	0.01441	2.38145e-48	95	135				
NLRC3	197358	broad.mit.edu	37	16	3613643	3613643	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:3613643C>A	uc010btn.2	-	5	1706	c.1295G>T	c.(1294-1296)GGC>GTC	p.G432V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	432	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GCACGGGGCGCCCTGCAGCAG	0.587		NaN											1	0	1.01871e-10	0.008871	1.11516e-10	19	19				
USP7	7874	broad.mit.edu	37	16	9014215	9014215	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:9014215C>T	uc002czl.2	-	5	810	c.611_splice	c.e5+1	p.A204_splice	USP7_uc010uyk.1_Splice_Site_p.A105_splice|USP7_uc010uyj.1_Splice_Site_p.A105_splice|USP7_uc002czk.2_Splice_Site_p.A188_splice|USP7_uc010uyl.1_Splice_Site	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7						interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						GAAAAACTTACGCAACTCCAT	0.378		NaN											0	0	0	0.005524	0	37	51				
NTAN1	123803	broad.mit.edu	37	16	15133844	15133844	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:15133844T>A	uc002ddd.2	-	8	626	c.621A>T	c.(619-621)CGA>CGT	p.R207R	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Silent_p.R102R	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	207						cytoplasm					0						CTGCTAAAGTTCGCGCAGCAC	0.443		NaN											0	0	0	0.01441	0	129	154				
ABCC1	4363	broad.mit.edu	37	16	16130386	16130386	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:16130386C>T	uc010bvi.2	+	7	910	c.735C>T	c.(733-735)AAC>AAT	p.N245N	ABCC1_uc010bvj.2_Silent_p.N245N|ABCC1_uc010bvk.2_Silent_p.N245N|ABCC1_uc010bvl.2_Silent_p.N245N|ABCC1_uc010bvm.2_Silent_p.N245N|ABCC1_uc002del.3_Silent_p.N129N|ABCC1_uc010bvn.2_Silent_p.N108N	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	245	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGTCCTTAAACAAGGAGGACA	0.532		NaN											0	0	0	0.01441	0	66	74				
GPR139	124274	broad.mit.edu	37	16	20084882	20084882	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:20084882G>T	uc002dgu.1	-	1	219	c.57C>A	c.(55-57)CCC>CCA	p.P19P	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	19	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)	2						AGGCCGAGCCGGGGGACCACC	0.697		NaN											1	0	1.2644e-06	0.010504	1.31674e-06	15	5				
SCNN1B	6338	broad.mit.edu	37	16	23388689	23388689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:23388689G>A	uc002dln.2	+	10	1562	c.1386G>A	c.(1384-1386)TGG>TGA	p.W462*		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	462	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGCTGACTGGCCTTCTGAGG	0.587		NaN											0	0	0	0.00623	0	34	55				
GTF3C1	2975	broad.mit.edu	37	16	27475764	27475764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:27475764C>T	uc002dov.1	-	34	5789	c.5749G>A	c.(5749-5751)GAA>AAA	p.E1917K	GTF3C1_uc002dou.2_Missense_Mutation_p.E1917K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1917						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GCGGTGTCTTCAAGAGCTGGG	0.652		NaN											0	0	0	0.01441	0	107	104				
GTF3C1	2975	broad.mit.edu	37	16	27556790	27556790	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:27556790C>G	uc002dov.1	-	2	316	c.276G>C	c.(274-276)GTG>GTC	p.V92V	GTF3C1_uc002dou.2_Silent_p.V92V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	92						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCTCCAAAGCCACCGGGTCCC	0.423		NaN											0	0	0	0.021022	0	37	39				
CLN3	1201	broad.mit.edu	37	16	28493802	28493802	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:28493802C>A	uc002dpo.2	-	11	1225	c.902G>T	c.(901-903)GGA>GTA	p.G301V	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G223V|CLN3_uc010vcu.1_Missense_Mutation_p.G201V|CLN3_uc002dpn.2_Missense_Mutation_p.G202V|CLN3_uc002dpm.2_Missense_Mutation_p.G247V|CLN3_uc010vcv.1_Missense_Mutation_p.G277V|CLN3_uc010byd.2_Missense_Mutation_p.G301V|CLN3_uc002dpp.2_Missense_Mutation_p.G301V|CLN3_uc002dpt.1_Missense_Mutation_p.G201V|CLN3_uc002dpq.1_Missense_Mutation_p.G253V|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.G174V|CLN3_uc002dpu.1_Missense_Mutation_p.G199V|CLN3_uc002dpw.1_Missense_Mutation_p.G148V|CLN3_uc010vcw.1_Missense_Mutation_p.G247V|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.G178V|CLN3_uc002dpy.1_Missense_Mutation_p.G145V	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	301					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						ACTTACAAGTCCCTGGTTAAT	0.542		NaN											1	0	9.16793e-09	0.00499	9.76622e-09	15	102				
RABEP2	79874	broad.mit.edu	37	16	28925724	28925724	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:28925724C>A	uc002drq.2	-	5	775	c.727G>T	c.(727-729)GTC>TTC	p.V243F	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.V172F|RABEP2_uc010byn.2_Missense_Mutation_p.V243F|RABEP2_uc002drr.2_Missense_Mutation_p.V243F	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	243					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CTGCTGCCGACCCCACCGCCA	0.672		NaN											1	0	3.76114e-14	0.019004	4.29512e-14	37	32				
SEPT1	1731	broad.mit.edu	37	16	30392504	30392504	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:30392504C>A	uc002dxy.2	-	7	689	c.502G>T	c.(502-504)GTC>TTC	p.V168F	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	168					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TTGCCAATGACTGGGATGATG	0.582		NaN											1	0	4.96213e-28	0.01441	6.41954e-28	56	92				
ZNF668	79759	broad.mit.edu	37	16	31073488	31073488	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:31073488C>T	uc010caf.2	-	3	1118	c.761G>A	c.(760-762)TGC>TAC	p.C254Y	ZNF668_uc002eao.2_Missense_Mutation_p.C254Y	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	254	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GCAGGCCGGGCAGCGGTAGGG	0.697		NaN											0	0	0	0.021022	0	35	39				
ZNF646	9726	broad.mit.edu	37	16	31088322	31088322	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:31088322A>G	uc002eap.2	+	2	966	c.677A>G	c.(676-678)GAG>GGG	p.E226G	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGGGGCCAGGAGCCCACCCAG	0.602		NaN											0	0	0	0.006999	0	39	42				
MYLK3	91807	broad.mit.edu	37	16	46764580	46764580	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:46764580T>C	uc002eei.3	-	5	1609	c.1493A>G	c.(1492-1494)GAA>GGA	p.E498G	MYLK3_uc010vge.1_Missense_Mutation_p.E157G|MYLK3_uc002eej.1_Missense_Mutation_p.E157G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	498					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TACCCGGTGTTCAAAAGGAGC	0.602		NaN											0	0	0	0.01441	0	46	92				
ABCC11	85320	broad.mit.edu	37	16	48248887	48248887	+	Missense_Mutation	SNP	G	G	C	rs142830864		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:48248887G>C	uc002eff.1	-	8	1503	c.1153C>G	c.(1153-1155)CTG>GTG	p.L385V	ABCC11_uc002efg.1_Missense_Mutation_p.L385V|ABCC11_uc002efh.1_Missense_Mutation_p.L385V|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	385	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATACTTGTCAGGCTCTGGACA	0.448		NaN							Cerumen_Type				0	0	0	0.008361	0	31	30				
C16orf78	123970	broad.mit.edu	37	16	49407936	49407936	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:49407936C>A	uc002efr.2	+	1	129	c.86C>A	c.(85-87)TCT>TAT	p.S29Y		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	29										central_nervous_system(1)	1						AGGCGCATGTCTGACCTCACC	0.468		NaN											1	0	3.94839e-29	0.01441	5.20512e-29	63	55				
MMP2	4313	broad.mit.edu	37	16	55523725	55523725	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:55523725G>A	uc002ehz.3	+	7	1480	c.1169G>A	c.(1168-1170)TGC>TAC	p.C390Y	MMP2_uc010vhd.1_Missense_Mutation_p.C314Y|MMP2_uc010ccc.2_Missense_Mutation_p.C340Y	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	390	Fibronectin type-II 3.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGGGCTTCTGCCCTGACCAA	0.572		NaN											0	0	0	0.021523	0	25	37				
PRSS54	221191	broad.mit.edu	37	16	58314503	58314503	+	Silent	SNP	G	G	A	rs151211769		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:58314503G>A	uc002enf.2	-	7	1208	c.813C>T	c.(811-813)GCC>GCT	p.A271A	PRSS54_uc002eng.2_Silent_p.A271A|PRSS54_uc010vie.1_Silent_p.A172A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	271					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GGGGAGGGCCGGCCCTCTCAG	0.527		NaN											0	0	0	0.013726	0	33	29				
CDH5	1003	broad.mit.edu	37	16	66436895	66436895	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:66436895C>A	uc002eom.3	+	12	2334	c.2178C>A	c.(2176-2178)GAC>GAA	p.D726E		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	726	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCCCTACGACACGCTGCACA	0.667		NaN											1	0	3.5997e-14	0.014323	4.12775e-14	23	23				
SF3B3	23450	broad.mit.edu	37	16	70605036	70605036	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:70605036G>T	uc002ezf.2	+	25	3658	c.3447G>T	c.(3445-3447)CGG>CGT	p.R1149R		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1149					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				TGCACCTGCGGTCTGAACATC	0.498		NaN											1	0	8.74965e-44	0.01441	1.20199e-43	109	113				
MARVELD3	91862	broad.mit.edu	37	16	71668682	71668682	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:71668682G>T	uc002fat.2	+	3	1245	c.1182G>T	c.(1180-1182)AAG>AAT	p.K394N	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	394	Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				TAAAAGAGAAGCCAGCAGAAA	0.493		NaN											1	0	1.07637e-12	0.021022	1.21173e-12	37	43				
CLEC18B	497190	broad.mit.edu	37	16	74452026	74452026	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:74452026T>A	uc002fct.2	-	3	587	c.387A>T	c.(385-387)GCA>GCT	p.A129A	CLEC18B_uc002fcu.2_Silent_p.A129A|CLEC18B_uc010vmu.1_Intron|CLEC18B_uc010vmw.1_Silent_p.A129A	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	129	SCP.					extracellular region	sugar binding				0						GCTGCCCCTCTGCAAACCACA	0.662		NaN											0	0	0	0.007291	0	29	36				
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:7578455C>G	uc002gim.2	-	5	669	c.475G>C	c.(475-477)GCC>CCC	p.A159P	TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCCATGGCGCGGACGCGG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	52	9		Valid		
MYH4	4622	broad.mit.edu	37	17	10353854	10353854	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:10353854G>C	uc002gmn.2	-	30	4208	c.4097C>G	c.(4096-4098)TCC>TGC	p.S1366C	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1366	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTTGGCCTTGGACATTCCCCT	0.602		NaN											0	0	0	0.01441	0	102	9				
SREBF1	6720	broad.mit.edu	37	17	17719174	17719174	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:17719174C>G	uc002gru.1	-	12	2577	c.2383G>C	c.(2383-2385)GTG>CTG	p.V795L	SREBF1_uc002grp.1_Missense_Mutation_p.V414L|SREBF1_uc002grq.1_Missense_Mutation_p.V314L|SREBF1_uc002grr.1_Missense_Mutation_p.V541L|SREBF1_uc002grs.1_Missense_Mutation_p.V771L|SREBF1_uc002grt.1_Missense_Mutation_p.V825L|MIR33B_hsa-mir-33b|MI0003646_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	795	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						AAGAGAGCACCTGGGTTCCCG	0.627		NaN											0	0	0	0.00308	0	8	21				
TOP3A	7156	broad.mit.edu	37	17	18181198	18181198	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:18181198C>A	uc002gsx.1	-	18	2847	c.2618G>T	c.(2617-2619)TGC>TTC	p.C873F	TOP3A_uc010cpz.1_Missense_Mutation_p.C325F|TOP3A_uc010vxr.1_Missense_Mutation_p.C403F|TOP3A_uc002gsw.1_Missense_Mutation_p.C325F|TOP3A_uc010vxs.1_Missense_Mutation_p.C771F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	873	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GCCTGGTGGGCATCCCAGGGA	0.642		NaN											1	0	2.14255e-21	0.01441	2.64836e-21	57	55				
RNF112	7732	broad.mit.edu	37	17	19319264	19319264	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:19319264C>T	uc010vyw.1	+	14	1871	c.1672C>T	c.(1672-1674)CTC>TTC	p.L558F	RNF112_uc010vyv.1_Missense_Mutation_p.L559F	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	558							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GGGGGCCGGGCTCATGGGCCT	0.692		NaN											0	0	0	0.00308	0	8	11				
RDM1	201299	broad.mit.edu	37	17	34251642	34251642	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:34251642G>A	uc002hkh.2	-	4	583	c.534C>T	c.(532-534)GGC>GGT	p.G178G	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.G155G|RDM1_uc002hkg.3_Silent_p.G155G|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.G178G|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.G155G|RDM1_uc002hki.2_Silent_p.G178G	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	178					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTCCACCAAGCCAATGCCAG	0.483		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.01441	0	113	10				
HSD17B1	3292	broad.mit.edu	37	17	40704977	40704977	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:40704977C>G	uc002hzw.2	+	1	994	c.26C>G	c.(25-27)ACC>AGC	p.T9S	HSD17B1_uc002hzx.2_Missense_Mutation_p.T9S|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.V202L|HSD17B1_uc010cyi.2_Missense_Mutation_p.T9S	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	9					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GTGCTCATCACCGGCTGTTCC	0.647		NaN											0	0	0	0.01441	0	55	4				
ACBD4	79777	broad.mit.edu	37	17	43220992	43220992	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:43220992G>A	uc010wjj.1	+	12	1479	c.1010G>A	c.(1009-1011)AGC>AAC	p.S337N	ACBD4_uc002iie.2_Missense_Mutation_p.S337N|ACBD4_uc002iif.2_3'UTR|ACBD4_uc002iic.2_3'UTR|ACBD4_uc010dae.2_Missense_Mutation_p.S259N	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						TGTGCCCTGAGCCTTCCTAGG	0.542		NaN											0	0	0	0.01441	0	66	0				
CBX1	10951	broad.mit.edu	37	17	46152410	46152410	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:46152410C>G	uc002ind.3	-	4	852	c.371G>C	c.(370-372)GGA>GCA	p.G124A	CBX1_uc002ine.3_Missense_Mutation_p.G124A	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	124	Chromo 2; shadow subtype.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						GTCTGTAGCTCCAATAATCCG	0.453		NaN											0	0	0	0.01441	0	87	87				
SAMD14	201191	broad.mit.edu	37	17	48195665	48195665	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:48195665C>T	uc002iqg.2	-	3	369	c.70G>A	c.(70-72)GCC>ACC	p.A24T	SAMD14_uc002iqd.2_5'Flank|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.A24T	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	24											0						TCCAGTCTGGCCGTCTCTGGC	0.662		NaN											0	0	0	0.01441	0	95	83				
COL1A1	1277	broad.mit.edu	37	17	48269225	48269225	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:48269225T>C	uc002iqm.2	-	31	2177	c.2051A>G	c.(2050-2052)GAG>GGG	p.E684G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	684	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CACACCACGCTCGCCAGGGAA	0.642		NaN	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						0	0	0	0.012319	0	19	23				
OR4D1	26689	broad.mit.edu	37	17	56232574	56232574	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:56232574C>G	uc010wno.1	+	1	60	c.60C>G	c.(58-60)ACC>ACG	p.T20T	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTCACAGACCCAAGAGCTCC	0.453		NaN											0	0	0	0.01441	0	113	97				
TANC2	26115	broad.mit.edu	37	17	61278265	61278265	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:61278265G>A	uc002jal.3	+	5	517	c.494G>A	c.(493-495)GGG>GAG	p.G165E	TANC2_uc010wpe.1_Missense_Mutation_p.G75E	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	165							binding			ovary(2)	2						TGCAGCTATGGGGCTGTTACT	0.468		NaN											0	0	0	0.01441	0	127	78				
RGS9	8787	broad.mit.edu	37	17	63221386	63221386	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:63221386G>A	uc002jfe.2	+	18	1784	c.1674G>A	c.(1672-1674)GAG>GAA	p.E558E	RGS9_uc010dem.2_Silent_p.E555E|RGS9_uc002jfd.2_Silent_p.E555E|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.E329E	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	558					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						AGAGCAGCGAGGCCTCCCTCG	0.672		NaN											0	0	0	0.01441	0	104	165				
SDK2	54549	broad.mit.edu	37	17	71426748	71426748	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:71426748C>T	uc010dfm.2	-	12	1485	c.1485G>A	c.(1483-1485)CGG>CGA	p.R495R	SDK2_uc010dfn.2_Silent_p.R174R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	495	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TGATGCGGGTCCGAGCTGAAA	0.587		NaN											0	0	0	0.004672	0	3	21				
NAT9	26151	broad.mit.edu	37	17	72769175	72769175	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:72769175C>A	uc002jlq.2	-	4	268	c.194G>T	c.(193-195)TGT>TTT	p.C65F	NAT9_uc002jlr.2_Missense_Mutation_p.C64F	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9	65	N-acetyltransferase.					protein complex	N-acetyltransferase activity				0						AATGAAGGTACACTCTGAGGA	0.567		NaN											1	0	1.99505e-19	0.012213	2.41232e-19	29	15				
FBF1	85302	broad.mit.edu	37	17	73914079	73914079	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:73914079C>A	uc002jqc.2	-	21	2548	c.2274G>T	c.(2272-2274)GAG>GAT	p.E758D	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E749D|FBF1_uc002jqd.1_Missense_Mutation_p.E759D|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Missense_Mutation_p.E69D	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	758											0						GGTGCGAGGCCTCCACGCGGG	0.657		NaN											1	0	1.42536e-11	0.004656	1.5885e-11	24	43				
C17orf56	146705	broad.mit.edu	37	17	79207838	79207838	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:79207838C>G	uc002jzu.1	-	5	340	c.318G>C	c.(316-318)GGG>GGC	p.G106G	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	106						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GATCTGGGGGCCCTGCAAAAG	0.677		NaN											0	0	0	0.00623	0	32	29				
P4HB	5034	broad.mit.edu	37	17	79801895	79801895	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr17:79801895T>C	uc002kbn.1	-	11	1717	c.1520A>G	c.(1519-1521)GAA>GGA	p.E507G	P4HB_uc002kbl.1_Missense_Mutation_p.E184G|P4HB_uc002kbm.1_Missense_Mutation_p.E184G	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	507	Prevents secretion from ER.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTATTACAGTTCATCTTTCAC	0.612		NaN											0	0	0	0.01441	0	193	130				
DSC2	1824	broad.mit.edu	37	18	28669557	28669557	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:28669557C>G	uc002kwl.3	-	5	929	c.475G>C	c.(475-477)GTT>CTT	p.V159L	DSC2_uc002kwk.3_Missense_Mutation_p.V159L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	159	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCAGATTGAACCTAGAAAGTA	0.328		NaN											0	0	0	0.004007	0	15	20				
DSC1	1823	broad.mit.edu	37	18	28720107	28720107	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:28720107G>A	uc002kwn.2	-	10	1680	c.1418C>T	c.(1417-1419)CCT>CTT	p.P473L	DSC1_uc002kwm.2_Missense_Mutation_p.P473L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	473	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCACTGGAGGGTGGCATTC	0.473		NaN											0	0	0	0.01441	0	52	61				
KLHL14	57565	broad.mit.edu	37	18	30350069	30350069	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:30350069C>A	uc002kxm.1	-	2	874	c.486G>T	c.(484-486)AAG>AAT	p.K162N		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	162						cytosol|endoplasmic reticulum membrane				ovary(1)	1						TGTGCAGGATCTTGCTGACCG	0.622		NaN											1	0	2.73361e-28	0.01441	3.55306e-28	65	74				
KLHL14	57565	broad.mit.edu	37	18	30350105	30350105	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:30350105G>A	uc002kxm.1	-	2	838	c.450C>T	c.(448-450)TCC>TCT	p.S150S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	150	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGTGTCCAGGGACAGGGTCA	0.642		NaN											0	0	0	0.01441	0	70	102				
CELF4	56853	broad.mit.edu	37	18	34852990	34852990	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:34852990G>T	uc002lae.2	-	7	1334	c.938C>A	c.(937-939)ACC>AAC	p.T313N	CELF4_uc010dnd.1_Missense_Mutation_p.T311N|CELF4_uc002lag.2_Missense_Mutation_p.T303N|CELF4_uc002laf.2_Missense_Mutation_p.T308N|CELF4_uc002lai.2_Missense_Mutation_p.T298N|CELF4_uc002lah.1_Missense_Mutation_p.T38N|CELF4_uc002laj.1_Missense_Mutation_p.D148E	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	313					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TGAGGTTGGGGTCATAGGTGC	0.662		NaN											1	0	6.21074e-16	0.011902	7.24152e-16	40	36				
ST8SIA3	51046	broad.mit.edu	37	18	55024154	55024154	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr18:55024154C>A	uc002lgn.2	+	3	670	c.313C>A	c.(313-315)CTT>ATT	p.L105I		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	105	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCAAGAAATTCTTCAGCATGT	0.318		NaN											1	0	5.35047e-06	0.01892	5.52982e-06	24	21				
SHD	56961	broad.mit.edu	37	19	4280064	4280064	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:4280064G>A	uc002lzw.2	+	1	1467	c.4G>A	c.(4-6)GCC>ACC	p.A2T	SHD_uc010dtu.2_Missense_Mutation_p.A2T	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	2											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCAAATGGCCAAGTGGCT	0.607		NaN											0	0	0	0.004482	0	8	1				
LONP1	9361	broad.mit.edu	37	19	5693378	5693379	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:5693378_5693379GG>TC	uc002mcx.2	-	17	2666_2667	c.2633_2634CC>GA	c.(2632-2634)GCC>GGA	p.A878G	LONP1_uc002mcy.2_Missense_Mutation_p.A814G|LONP1_uc010duh.2_Missense_Mutation_p.A619G|LONP1_uc010dui.2_Missense_Mutation_p.A862G|LONP1_uc002mcz.2_Missense_Mutation_p.A682G	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	878					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CGCCAGTCATGGCCAGATTCTG	0.649		NaN											0	0	0	0.004672	0	61	11				
FUT5	2527	broad.mit.edu	37	19	5866680	5866680	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:5866680C>T	uc002mdo.3	-	2	1145	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	FUT5_uc010duo.2_Missense_Mutation_p.A353T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	353	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						TTCCAGCAGGCCTTGCAGAAA	0.652		NaN											0	0	0	0.010771	0	39	7				
C3	718	broad.mit.edu	37	19	6696452	6696452	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:6696452G>T	uc002mfm.2	-	23	2950	c.2888C>A	c.(2887-2889)CCA>CAA	p.P963Q		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	963					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCTGCAGGTGGGATGTCCTC	0.572		NaN											1	0	4.4194e-11	0.013726	4.87628e-11	36	22				
VAV1	7409	broad.mit.edu	37	19	6828657	6828657	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:6828657G>T	uc002mfu.1	+	12	1214	c.1117G>T	c.(1117-1119)GTC>TTC	p.V373F	VAV1_uc010xjh.1_Missense_Mutation_p.V341F|VAV1_uc010dva.1_Missense_Mutation_p.V373F|VAV1_uc002mfv.1_Missense_Mutation_p.V318F	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	373	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CGTGAACGAGGTCAAGCGAGA	0.632		NaN											1	0	1.36615e-20	0.013726	1.67007e-20	33	520				
FBN3	84467	broad.mit.edu	37	19	8176067	8176067	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:8176067T>C	uc002mjf.2	-	32	4106	c.4085A>G	c.(4084-4086)GAC>GGC	p.D1362G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1362	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTCATCCCTGTCTGAGGGGCC	0.637		NaN											0	0	0	0.005524	0	35	197				
MYO1F	4542	broad.mit.edu	37	19	8609325	8609325	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:8609325G>A	uc002mkg.2	-	14	1494	c.1380C>T	c.(1378-1380)GTC>GTT	p.V460V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	460	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CGTCGTCCAAGACGCTCATGA	0.657		NaN											0	0	0	0.019004	0	35	115				
MUC16	94025	broad.mit.edu	37	19	9001859	9001859	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9001859T>C	uc002mkp.2	-	53	40593	c.40389A>G	c.(40387-40389)AGA>AGG	p.R13463R	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.R280R|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGCTGGAGTTCTCGAGGTTG	0.478		NaN											0	0	0	0.013537	0	8	39				
MUC16	94025	broad.mit.edu	37	19	9016999	9016999	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9016999G>A	uc002mkp.2	-	27	38200	c.37996C>T	c.(37996-37998)CCT>TCT	p.P12666S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12668	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGGCACAGGGATCCAATGG	0.537		NaN											0	0	0	0.005443	0	25	141				
MUC16	94025	broad.mit.edu	37	19	9057120	9057120	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9057120G>T	uc002mkp.2	-	3	30530	c.30326C>A	c.(30325-30327)ACC>AAC	p.T10109N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10111	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAACTGGTGGTTCCCACATT	0.488		NaN											1	0	2.87052e-16	0.005524	3.36816e-16	38	186				
MUC16	94025	broad.mit.edu	37	19	9058002	9058002	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9058002G>T	uc002mkp.2	-	3	29648	c.29444C>A	c.(29443-29445)GCC>GAC	p.A9815D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9817	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTCACTTTGGCCACCGCTGT	0.458		NaN											1	0	1.08321e-29	0.01441	1.43138e-29	73	138				
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9068085G>A	uc002mkp.2	-	3	19565	c.19361C>T	c.(19360-19362)GCG>GTG	p.A6454V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6456	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTGATGTCGCCCTATGAGG	0.498		NaN											0	0	0	0.01441	0	91	433				
MUC16	94025	broad.mit.edu	37	19	9086125	9086125	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9086125G>T	uc002mkp.2	-	1	5894	c.5690C>A	c.(5689-5691)ACT>AAT	p.T1897N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1897	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCTGTGTAAGTCATGGAAGT	0.488		NaN											1	0	2.27525e-19	0.021523	2.73919e-19	25	109				
MUC16	94025	broad.mit.edu	37	19	9090068	9090068	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9090068C>G	uc002mkp.2	-	1	1951	c.1747G>C	c.(1747-1749)GAA>CAA	p.E583Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	583	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGTTTCTTCAAGCCAAATC	0.532		NaN											0	0	0	0.01441	0	104	28				
ZNF846	162993	broad.mit.edu	37	19	9868990	9868990	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9868990C>T	uc002mmb.1	-	6	1294	c.763G>A	c.(763-765)GTC>ATC	p.V255I	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.V126I|ZNF846_uc002mmc.1_Missense_Mutation_p.V126I	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	255	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTTACAGACATAGGGCTTC	0.393		NaN											0	0	0	0.01441	0	47	107				
OLFM2	93145	broad.mit.edu	37	19	9968097	9968097	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:9968097G>A	uc002mmp.2	-	4	450	c.422C>T	c.(421-423)GCA>GTA	p.A141V	OLFM2_uc002mmo.2_Missense_Mutation_p.A63V	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	141	Potential.					extracellular region				large_intestine(1)|skin(1)	2						CCGCGTGTCTGCCTTGTACTG	0.597		NaN											0	0	0	0.01441	0	40	146				
C19orf52	90580	broad.mit.edu	37	19	11040151	11040151	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11040151G>T	uc002mqd.1	+	2	631	c.556G>T	c.(556-558)GAC>TAC	p.D186Y	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	186											0						CGACATCAACGACGACGAATT	0.672		NaN											1	0	3.45148e-53	0.01441	4.87423e-53	100	40				
SMARCA4	6597	broad.mit.edu	37	19	11143966	11143966	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11143966G>C	uc002mqf.3	+	26	3831	c.3547G>C	c.(3547-3549)GAC>CAC	p.D1183H	SMARCA4_uc010dxp.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxo.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxq.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxr.2_Missense_Mutation_p.D1183H|SMARCA4_uc002mqj.3_Missense_Mutation_p.D1183H|SMARCA4_uc010dxs.2_Missense_Mutation_p.D1183H|SMARCA4_uc010dxt.1_Missense_Mutation_p.D403H|SMARCA4_uc002mqh.3_Missense_Mutation_p.D306H|SMARCA4_uc002mqi.1_Missense_Mutation_p.D386H	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1183	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCCCCCAGGACCTGCAAGC	0.627		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.01441	0	107	48		Valid		
ZNF653	115950	broad.mit.edu	37	19	11609127	11609127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:11609127C>T	uc002mrz.1	-	2	380	c.327G>A	c.(325-327)AAG>AAA	p.K109K		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	109	Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCGCTTTGGCTTTTTGGGGA	0.498		NaN											0	0	0	0.01441	0	138	514				
ZNF878	729747	broad.mit.edu	37	19	12167103	12167103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:12167103G>C	uc002mta.1	-	1	25	c.25C>G	c.(25-27)CTG>GTG	p.L9V		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	Error:Variant_position_missing_in_C9JN71_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TACAACCCCAGATAGGACAGA	0.562		NaN											0	0	0	0.014758	0	4	4				
NANOS3	342977	broad.mit.edu	37	19	13988397	13988397	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:13988397G>A	uc002mxj.3	+	1	448	c.335G>A	c.(334-336)TGT>TAT	p.C112Y		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	93	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GACTACGTGTGTCCCCAGTGC	0.647		NaN											0	0	0	0.008361	0	30	27				
CCDC105	126402	broad.mit.edu	37	19	15121757	15121757	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:15121757G>A	uc002nae.2	+	1	219	c.120G>A	c.(118-120)GGG>GGA	p.G40G	SLC1A6_uc010xod.1_5'Flank	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	40					microtubule cytoskeleton organization	microtubule				ovary(1)	1						ATCGCTGCGGGCAGGAGGCGG	0.711		NaN											0	0	0	0.001984	0	5	12				
AKAP8L	26993	broad.mit.edu	37	19	15491178	15491178	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:15491178C>G	uc002naw.1	-	14	1795	c.1696G>C	c.(1696-1698)GCC>CCC	p.A566P	AKAP8_uc002nav.2_5'Flank|AKAP8_uc010xog.1_5'Flank|AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A505P	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	566				EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).		cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						TCGTCCAGGGCACCGCCCTCA	0.741		NaN											0	0	0	0.001984	0	7	7				
PIK3R2	5296	broad.mit.edu	37	19	18273235	18273235	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:18273235A>G	uc002nia.1	+	9	1540	c.1028A>G	c.(1027-1029)AAA>AGA	p.K343R	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	343	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						GTGAACGAGAAACTCCGGGAC	0.627		NaN											0	0	0	0.007413	0	17	38				
ZNF682	91120	broad.mit.edu	37	19	20117916	20117916	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:20117916C>A	uc002noq.2	-	4	518	c.395G>T	c.(394-396)GGA>GTA	p.G132V	ZNF682_uc002noo.2_Missense_Mutation_p.G100V|ZNF682_uc002nop.2_Missense_Mutation_p.G100V|ZNF682_uc010eck.2_Missense_Mutation_p.G56V	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						TTGGTTAAGTCCATTATAAAT	0.323		NaN											1	0	2.4375e-19	0.007291	2.92816e-19	28	43				
KIAA0355	9710	broad.mit.edu	37	19	34832392	34832392	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:34832392C>A	uc002nvd.3	+	10	2412	c.1553C>A	c.(1552-1554)GCT>GAT	p.A518D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	518										ovary(1)	1	Esophageal squamous(110;0.162)					GGCAACCAGGCTGACCTGCCT	0.428		NaN											1	0	1.27862e-28	0.01441	1.66973e-28	55	57				
PRODH2	58510	broad.mit.edu	37	19	36303753	36303753	+	Silent	SNP	C	C	G	rs142806923	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:36303753C>G	uc002obx.1	-	2	201	c.183G>C	c.(181-183)CTG>CTC	p.L61L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	61					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCTGGAGGCAGCAAGTTCA	0.587		NaN											0	0	0	0.006122	0	19	20				
APLP1	333	broad.mit.edu	37	19	36365745	36365745	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:36365745G>A	uc002oce.2	+	10	1456	c.1318G>A	c.(1318-1320)GAG>AAG	p.E440K	APLP1_uc010xsz.1_Missense_Mutation_p.E401K|APLP1_uc002ocf.2_Missense_Mutation_p.E440K|APLP1_uc002ocg.2_Missense_Mutation_p.E343K|APLP1_uc010xta.1_Missense_Mutation_p.E434K	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	440	Extracellular (Potential).|Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTGGATCCCGAGAAGGCACA	0.642		NaN											0	0	0	0.005443	0	25	26				
FAM98C	147965	broad.mit.edu	37	19	38896273	38896273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:38896273G>C	uc002oin.1	+	6	767	c.748G>C	c.(748-750)GAG>CAG	p.E250Q	FAM98C_uc002oio.1_Missense_Mutation_p.E224Q|FAM98C_uc010xtz.1_Intron	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	250										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGACCGGGCAGAGGTGTGGTG	0.607		NaN											0	0	0	0.004656	0	23	36				
LRFN1	57622	broad.mit.edu	37	19	39804639	39804639	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:39804639C>A	uc002okw.2	-	1	1338	c.1338G>T	c.(1336-1338)AGG>AGT	p.R446S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	446	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGGGCACAGGCCTCTGGGCTG	0.647		NaN											1	0	2.32078e-09	0.003163	2.49619e-09	16	39				
CEACAM4	1089	broad.mit.edu	37	19	42132180	42132180	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:42132180T>A	uc002orh.1	-	2	330	c.219A>T	c.(217-219)GCA>GCT	p.A73A	CEACAM4_uc010xwd.1_Silent_p.A73A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	73	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction					0						GGCTCCCTTCTGCCGTTTTCC	0.493		NaN											0	0	0	0.01441	0	87	54				
ZNF225	7768	broad.mit.edu	37	19	44636769	44636769	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:44636769A>T	uc002oyj.1	+	5	2245	c.2002A>T	c.(2002-2004)AAA>TAA	p.K668*	ZNF225_uc010eje.1_Nonsense_Mutation_p.K585*|ZNF225_uc010ejf.1_Nonsense_Mutation_p.K668*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	668	C2H2-type 18; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TTCATGCCTTAAAGACCAACA	0.443		NaN											0	0	0	0.016522	0	23	9				
ERCC2	2068	broad.mit.edu	37	19	45860917	45860917	+	Silent	SNP	C	C	G	rs148469762	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:45860917C>G	uc002pbj.2	-	13	1325	c.1278G>C	c.(1276-1278)CCG>CCC	p.P426P	ERCC2_uc002pbh.2_5'UTR|ERCC2_uc002pbi.2_Silent_p.P119P|ERCC2_uc010ejz.2_Silent_p.P348P|ERCC2_uc002pbk.2_Silent_p.P402P	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	426					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGCAATGGTCGGGGTTCTGT	0.642		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.013537	0	12	52				
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48845927C>G	uc002pix.1	-	6	844	c.835G>C	c.(835-837)GCC>CCC	p.A279P	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244P|TMEM143_uc010xzn.1_Missense_Mutation_p.A214P|TMEM143_uc010elw.1_Missense_Mutation_p.A179P|TMEM143_uc010xzo.1_Missense_Mutation_p.A69P	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642		NaN											0	0	0	0.005524	0	35	24				
TMEM143	55260	broad.mit.edu	37	19	48846055	48846055	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48846055T>G	uc002pix.1	-	6	716	c.707A>C	c.(706-708)AAG>ACG	p.K236T	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.K201T|TMEM143_uc010xzn.1_Missense_Mutation_p.K171T|TMEM143_uc010elw.1_Missense_Mutation_p.K136T|TMEM143_uc010xzo.1_Missense_Mutation_p.K26T|TMEM143_uc010xzp.1_3'UTR|TMEM143_uc010xzq.1_3'UTR	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	236						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GACCACCCGCTTAAAGTATCT	0.627		NaN											0	0	0	0.009535	0	26	16				
KCNJ14	3770	broad.mit.edu	37	19	48965180	48965180	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48965180G>A	uc002pje.1	+	2	604	c.199G>A	c.(199-201)GGT>AGT	p.G67S	KCNJ14_uc002pjf.1_Missense_Mutation_p.G67S	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	67	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGTAAACCTGGGTGGCCAGGG	0.677		NaN											0	0	0	0.00499	0	17	11				
TULP2	7288	broad.mit.edu	37	19	49385331	49385331	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49385331G>A	uc002pkz.2	-	12	1556	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	469					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACCGAAGCCCGAGTGACTCGA	0.547		NaN											0	0	0	0.006122	0	16	81				
TEAD2	8463	broad.mit.edu	37	19	49863219	49863219	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49863219G>T	uc002pnj.2	-	2	205	c.114C>A	c.(112-114)GGC>GGA	p.G38G	TEAD2_uc002png.2_Silent_p.G38G|TEAD2_uc002pnh.2_Silent_p.G38G|TEAD2_uc002pni.2_Silent_p.G38G|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.G38G	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	38					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CTGCATCCGGGCCCCCGTCAC	0.677		NaN											1	0	1.1397e-45	0.01441	1.57347e-45	74	32				
C19orf41	126123	broad.mit.edu	37	19	50657922	50657922	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:50657922C>T	uc002prp.1	-	6	645	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	186	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		CCAACAGCGCCTGGTTCCTCG	0.622		NaN											0	0	0	0.016522	0	21	78				
KLK15	55554	broad.mit.edu	37	19	51329189	51329189	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:51329189G>A	uc002ptl.2	-	5	665	c.634C>T	c.(634-636)CCC>TCC	p.P212S	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Missense_Mutation_p.P127S|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Missense_Mutation_p.P211S|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	212	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGACCAGGGGTCCCCCAGAG	0.542		NaN											0	0	0	0.017118	0	33	19				
UBE2S	27338	broad.mit.edu	37	19	55915730	55915730	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:55915730C>A	uc002qkx.1	-	3	636	c.268G>T	c.(268-270)GCC>TCC	p.A90S		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	90					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCGCCATTGGCGCCCACGTTC	0.617		NaN											1	0	2.37825e-27	0.010771	3.05539e-27	32	22				
ZNF773	374928	broad.mit.edu	37	19	58018245	58018245	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:58018245A>G	uc002qox.2	+	4	922	c.782A>G	c.(781-783)GAC>GGC	p.D261G	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.D260G|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	261	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CGTAATGCTGACCTCATTCAA	0.418		NaN											0	0	0	0.01892	0	24	71				
SNTG2	54221	broad.mit.edu	37	2	1168818	1168818	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:1168818C>T	uc002qwq.2	+	8	668	c.540C>T	c.(538-540)TCC>TCT	p.S180S	SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	180					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTGGGGCCTCCTCTCCCCTCT	0.473		NaN											0	0	0	0.01441	0	113	18				
PXDN	7837	broad.mit.edu	37	2	1652481	1652481	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:1652481G>T	uc002qxa.2	-	17	3135	c.3071C>A	c.(3070-3072)GCG>GAG	p.A1024E		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1024					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCTCCGCACCCACGAT	0.622		NaN											1	0	3.86212e-05	0.008291	3.94747e-05	11	0				
GEN1	348654	broad.mit.edu	37	2	17962140	17962140	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:17962140A>C	uc002rct.2	+	14	1734	c.1661A>C	c.(1660-1662)CAG>CCG	p.Q554P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.Q554P|GEN1_uc002rcu.2_Missense_Mutation_p.Q554P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	554					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGGCTATACAGCAAATTAAA	0.363		NaN						Homologous_recombination					0	0	0	0.010818	0	33	2				
BIRC6	57448	broad.mit.edu	37	2	32715215	32715215	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:32715215A>C	uc010ezu.2	+	43	8337	c.8203A>C	c.(8203-8205)AAT>CAT	p.N2735H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2735					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATGCAGCTTAATTGTAAGTT	0.358		NaN											0	0	0	0.01441	0	67	7				
OXER1	165140	broad.mit.edu	37	2	42990186	42990186	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:42990186G>A	uc002rss.2	-	1	1216	c.1134C>T	c.(1132-1134)GGC>GGT	p.G378G		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	378	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						CGCTCACTGGGCCCTGCCGGC	0.662		NaN											0	0	0	0.01441	0	51	2				
MSH2	4436	broad.mit.edu	37	2	47702220	47702220	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:47702220G>T	uc002rvy.1	+	12	1884	c.1816G>T	c.(1816-1818)GTC>TTC	p.V606F	MSH2_uc010yoh.1_Missense_Mutation_p.V540F|MSH2_uc002rvz.2_Missense_Mutation_p.V606F|MSH2_uc010fbg.2_Missense_Mutation_p.V416F|MSH2_uc010fbi.1_RNA	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	606	Interaction with EXO1.				B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGCTGTTGTCAGCTTTGC	0.393		NaN	D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				1	0	3.4345e-17	0.011902	4.07296e-17	44	7				
FAM161A	84140	broad.mit.edu	37	2	62081096	62081096	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:62081096G>A	uc010ypo.1	-	1	183	c.81C>T	c.(79-81)GTC>GTT	p.V27V	FAM161A_uc002sbm.3_Silent_p.V27V|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	27					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						CGTACTGGGCGACCCGCGCTC	0.667		NaN											0	0	0	0.006122	0	18	6				
ASTL	431705	broad.mit.edu	37	2	96798412	96798412	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:96798412C>A	uc010yui.1	-	6	504	c.504G>T	c.(502-504)CTG>CTT	p.L168L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	168					proteolysis		metalloendopeptidase activity|zinc ion binding				0						ACGTGGGCGCCAGGGAGACCA	0.652		NaN											1	0	5.34276e-22	0.01441	6.63362e-22	46	88				
TMEM131	23505	broad.mit.edu	37	2	98422040	98422040	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:98422040C>T	uc002syh.3	-	20	2411	c.2182G>A	c.(2182-2184)GAC>AAC	p.D728N		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	728						integral to membrane				ovary(4)|central_nervous_system(2)	6						GGCTCCAAGTCTTCCTTATTG	0.343		NaN											0	0	0	0.01441	0	75	102				
SLC9A4	389015	broad.mit.edu	37	2	103120009	103120009	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:103120009C>A	uc002tbz.3	+	3	1280	c.823C>A	c.(823-825)CTT>ATT	p.L275I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	275	Helical; Name=H/M6; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CGTTGTGGGGCTTGGAGGGGT	0.388		NaN											1	0	5.35047e-06	0.01892	5.52982e-06	22	32				
PSD4	23550	broad.mit.edu	37	2	113941042	113941042	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:113941042G>C	uc002tjc.2	+	2	1192	c.1009G>C	c.(1009-1011)GCC>CCC	p.A337P	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.A336P|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	337					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTCAGTGGCTGCCGCTGAGGG	0.617		NaN											0	0	0	0.009535	0	29	32				
INHBB	3625	broad.mit.edu	37	2	121107164	121107164	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:121107164G>C	uc002tmn.2	+	2	984	c.938G>C	c.(937-939)CGC>CCC	p.R313P		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	313					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				ATTGACTTCCGCCTCATCGGC	0.632		NaN											0	0	0	0.01441	0	71	91				
BIN1	274	broad.mit.edu	37	2	127821519	127821519	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:127821519G>A	uc002tns.1	-	8	1033	c.688C>T	c.(688-690)CTG>TTG	p.L230L	BIN1_uc010yzf.1_Silent_p.L175L|BIN1_uc010yzg.1_Silent_p.L230L|BIN1_uc002tnu.1_Silent_p.L199L|BIN1_uc002toa.1_Silent_p.L199L|BIN1_uc002tnt.1_Silent_p.L199L|BIN1_uc002tnv.1_Silent_p.L230L|BIN1_uc002tnw.1_Silent_p.L199L|BIN1_uc002tnx.1_Silent_p.L199L|BIN1_uc002tny.1_Silent_p.L230L|BIN1_uc002tnz.1_Silent_p.L199L|BIN1_uc002tob.1_Silent_p.L199L|BIN1_uc002toc.1_Silent_p.L199L	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	230	BAR.|Potential.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGTTCCACAGGGACGGCAGC	0.652		NaN											0	0	0	0.01441	0	51	48				
IMP4	92856	broad.mit.edu	37	2	131103212	131103212	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:131103212G>T	uc002tra.1	+	5	396	c.379G>T	c.(379-381)GCC>TCC	p.A127S		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	127	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					ACTGGTGCGAGCCTGCAAAGC	0.647		NaN											1	0	1.26454e-06	0.005443	1.31674e-06	27	34				
FAM123C	205147	broad.mit.edu	37	2	131521341	131521341	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:131521341C>G	uc002trw.2	+	2	1886	c.1696C>G	c.(1696-1698)CAG>GAG	p.Q566E	FAM123C_uc010fmv.2_Missense_Mutation_p.Q566E|FAM123C_uc010fms.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmt.1_Missense_Mutation_p.Q566E|FAM123C_uc010fmu.1_Missense_Mutation_p.Q566E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	566										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCCAGCAGGCAGGAGCTGTG	0.692		NaN											0	0	0	0.010504	0	19	26				
TUBA3D	113457	broad.mit.edu	37	2	132235813	132235813	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:132235813A>G	uc002tsu.3	+	2	187	c.80A>G	c.(79-81)GAA>GGA	p.E27G		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	27					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		TACTGCCTTGAACATGGAATT	0.532		NaN											0	0	0	0.01441	0	53	97				
THSD7B	80731	broad.mit.edu	37	2	138414682	138414682	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:138414682A>T	uc002tva.1	+	23	4240	c.4240A>T	c.(4240-4242)AAC>TAC	p.N1414Y	THSD7B_uc010zbj.1_RNA	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGGAACAATAACGAACGAAC	0.418		NaN											0	0	0	0.013726	0	30	36				
ARHGAP15	55843	broad.mit.edu	37	2	143959730	143959730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:143959730C>T	uc002tvm.3	+	3	344	c.193C>T	c.(193-195)CAG>TAG	p.Q65*	ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.Q65*	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	65					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAATCATTCACAGCATATCTT	0.244		NaN											0	0	0	0.009535	0	25	53				
DPP4	1803	broad.mit.edu	37	2	162865119	162865119	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:162865119A>G	uc002ubz.2	-	22	2501	c.1940T>C	c.(1939-1941)TTC>TCC	p.F647S	DPP4_uc010fpb.2_Missense_Mutation_p.F323S	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	647	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)	TCCACACTTGAACACGCCACT	0.463		NaN											0	0	0	0.01441	0	45	51				
SCN1A	6323	broad.mit.edu	37	2	166901824	166901824	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:166901824G>A	uc010zcz.1	-	10	1409	c.1391C>T	c.(1390-1392)GCA>GTA	p.A464V	SCN1A_uc002udo.3_Missense_Mutation_p.A333V|SCN1A_uc010fpk.2_Missense_Mutation_p.A333V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	464						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAGGCAGTTGCCGTTGCTGC	0.448		NaN											0	0	0	0.01441	0	53	91				
SCN1A	6323	broad.mit.edu	37	2	166903446	166903446	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:166903446A>G	uc010zcz.1	-	9	1229	c.1211T>C	c.(1210-1212)GTA>GCA	p.V404A	SCN1A_uc002udo.3_Missense_Mutation_p.V273A|SCN1A_uc010fpk.2_Missense_Mutation_p.V273A	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	404	Helical; Name=S6 of repeat I; (By similarity).|I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGACCAATACAAAAAATAT	0.398		NaN											0	0	0	0.01441	0	60	44				
TTN	7273	broad.mit.edu	37	2	179403929	179403929	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:179403929C>T	uc010zfg.1	-	302	91253	c.91029G>A	c.(91027-91029)AAG>AAA	p.K30343K	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K24038K|TTN_uc010zfi.1_Silent_p.K23971K|TTN_uc010zfj.1_Silent_p.K23846K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31270							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACAGAACTCTTGGTTACAT	0.458		NaN											0	0	0	0.010729	0	11	35				
TTN	7273	broad.mit.edu	37	2	179593726	179593726	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:179593726C>A	uc010zfg.1	-	62	15531	c.15307G>T	c.(15307-15309)GCC>TCC	p.A5103S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1764S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6030							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGTGTGGCCACACTGTCC	0.413		NaN											1	0	1.02788e-11	0.00499	1.15248e-11	17	15				
CERKL	375298	broad.mit.edu	37	2	182403985	182403985	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:182403985A>T	uc002unx.2	-	13	1551	c.1450T>A	c.(1450-1452)TTT>ATT	p.F484I	CERKL_uc002uny.2_Missense_Mutation_p.F458I|CERKL_uc010zfm.1_Missense_Mutation_p.F440I|CERKL_uc002unz.2_Missense_Mutation_p.F206I|CERKL_uc002uoa.2_Missense_Mutation_p.F389I|CERKL_uc002uob.2_Missense_Mutation_p.F206I|CERKL_uc002uoc.2_Missense_Mutation_p.F345I|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.F54I	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	484					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACAAATGGAAAATTGAACTAA	0.353		NaN											0	0	0	0.005443	0	26	29				
SLC40A1	30061	broad.mit.edu	37	2	190428407	190428407	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:190428407C>A	uc002uqp.3	-	7	1656	c.1305G>T	c.(1303-1305)GGG>GGT	p.G435G		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	435					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAGAATTAGACCCATTAGACA	0.408		NaN											1	0	1.67305e-13	0.00623	1.89886e-13	41	49				
MYO1B	4430	broad.mit.edu	37	2	192255219	192255219	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:192255219G>C	uc010fsg.2	+	18	2237	c.1982_splice	c.e18+1	p.R661_splice	MYO1B_uc002usq.2_Splice_Site_p.R661_splice|MYO1B_uc002usr.2_Splice_Site_p.R661_splice|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GACCAGCCAGGTAAGAAATTC	0.378		NaN											0	0	0	0.004007	0	16	20				
NRP2	8828	broad.mit.edu	37	2	206631519	206631519	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:206631519C>T	uc002vaw.2	+	15	3208	c.2417C>T	c.(2416-2418)GCT>GTT	p.A806V	NRP2_uc002vau.2_Missense_Mutation_p.A806V|NRP2_uc002vav.2_Missense_Mutation_p.A806V|NRP2_uc002vax.2_Missense_Mutation_p.A806V|NRP2_uc002vay.2_Missense_Mutation_p.A806V	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	806	Extracellular (Potential).				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CCCATCTCGGCTTTTGCAGGT	0.343		NaN									OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	24	24				
ZDBF2	57683	broad.mit.edu	37	2	207170202	207170202	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:207170202C>T	uc002vbp.2	+	5	1200	c.950C>T	c.(949-951)TCT>TTT	p.S317F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	317							nucleic acid binding|zinc ion binding			ovary(3)	3						GACATGCCTTCTAATAAAGGA	0.368		NaN											0	0	0	0.004482	0	8	15				
FN1	2335	broad.mit.edu	37	2	216240428	216240428	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:216240428G>A	uc002vfa.2	-	37	6167	c.5901C>T	c.(5899-5901)GGC>GGT	p.G1967G	FN1_uc002vfb.2_Silent_p.G1786G|FN1_uc002vfc.2_Silent_p.G1786G|FN1_uc002vfd.2_Silent_p.G1967G|FN1_uc002vfe.2_Silent_p.G1876G|FN1_uc002vff.2_Silent_p.G1876G|FN1_uc002vfg.2_Silent_p.G1786G|FN1_uc002vfh.2_Silent_p.G1786G|FN1_uc002vfi.2_Silent_p.G1967G|FN1_uc002vfj.2_Silent_p.G1877G|FN1_uc002vez.2_Silent_p.G161G|FN1_uc010zjp.1_Silent_p.G504G|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Silent_p.G329G|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1966	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTAGTCAGTGCCTGGTTGTA	0.438		NaN											0	0	0	0.004007	0	14	28				
KCNJ13	3769	broad.mit.edu	37	2	233635823	233635823	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:233635823C>T	uc002vto.2	-	1	293	c.250G>A	c.(250-252)GAT>AAT	p.D84N	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.D84N	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	84	Extracellular (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AGTTCCAGATCACCATTCATC	0.473		NaN											0	0	0	0.01441	0	57	42				
COL6A3	1293	broad.mit.edu	37	2	238275417	238275417	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr2:238275417G>C	uc002vwl.2	-	11	5698	c.5413C>G	c.(5413-5415)CTG>GTG	p.L1805V	COL6A3_uc002vwo.2_Missense_Mutation_p.L1599V|COL6A3_uc010znj.1_Missense_Mutation_p.L1198V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1805	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGTTCGGACAGCTCCTGGACG	0.517		NaN											0	0	0	0.01441	0	69	88				
ANGPT4	51378	broad.mit.edu	37	20	869075	869075	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:869075T>A	uc002wei.2	-	3	576	c.473A>T	c.(472-474)AAC>ATC	p.N158I	ANGPT4_uc010zpn.1_Missense_Mutation_p.N152I	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	158	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						TGATGTCTGGTTCAGGAGCTG	0.602		NaN											0	0	0	0.007413	0	16	100				
TMC2	117532	broad.mit.edu	37	20	2596782	2596782	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:2596782G>T	uc002wgf.1	+	15	1888	c.1873_splice	c.e15-1	p.P625_splice	TMC2_uc002wgg.1_Splice_Site_p.P609_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2							integral to membrane				ovary(3)	3						tccctctctAGCCTTCATATG	0.368		NaN											1	0	2.70662e-09	0.009535	2.90556e-09	32	43				
MAVS	57506	broad.mit.edu	37	20	3845324	3845324	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:3845324G>T	uc002wjw.3	+	6	1216	c.1047G>T	c.(1045-1047)TTG>TTT	p.L349F	MAVS_uc002wjx.3_Missense_Mutation_p.L208F|MAVS_uc002wjy.3_Missense_Mutation_p.L47F	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	349	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CATCCAAATTGCCCATCAACT	0.567		NaN											1	0	1.4374e-25	0.01441	1.82972e-25	54	156				
TMX4	56255	broad.mit.edu	37	20	7980425	7980425	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:7980425G>C	uc002wmx.1	-	4	554	c.421C>G	c.(421-423)CAA>GAA	p.Q141E		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	141					cell redox homeostasis|electron transport chain|transport	integral to membrane					0						TCGACTGATTGCCATTTCTTC	0.403		NaN											0	0	0	0.006122	0	18	54				
FLRT3	23767	broad.mit.edu	37	20	14307612	14307612	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:14307612G>A	uc002wov.1	-	3	1008	c.541C>T	c.(541-543)CGC>TGC	p.R181C	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R181C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	181	Extracellular (Potential).|LRR 6.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCATCCAAGCGTAGTTCTTCT	0.458		NaN											0	0	0	0.01892	0	23	145				
RRBP1	6238	broad.mit.edu	37	20	17639309	17639309	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:17639309C>A	uc002wpv.1	-	4	908	c.554G>T	c.(553-555)AGC>ATC	p.S185I	RRBP1_uc002wpu.2_5'UTR|RRBP1_uc002wpw.1_Missense_Mutation_p.S185I|RRBP1_uc010gcl.1_Intron	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	615	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TGCCTCTGGGCTCTGGGCCAC	0.493		NaN											1	0	1.38909e-20	0.01441	1.69439e-20	51	98				
HCK	3055	broad.mit.edu	37	20	30672193	30672193	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:30672193G>C	uc002wxh.2	+	8	854	c.683_splice	c.e8-1	p.K228_splice	HCK_uc010gdy.2_Splice_Site_p.K207_splice|HCK_uc002wxi.2_Splice_Site_p.K206_splice	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK						interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCTGTTCCAGAGGGGAACGA	0.597		NaN											0	0	0	0.010729	0	12	26				
HCK	3055	broad.mit.edu	37	20	30672279	30672279	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:30672279G>A	uc002wxh.2	+	8	939	c.768G>A	c.(766-768)GAG>GAA	p.E256E	HCK_uc010gdy.2_Silent_p.E235E|HCK_uc002wxi.2_Silent_p.E234E	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	256					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCCTGGGAGATCCCTCGGG	0.602		NaN											0	0	0	0.009535	0	30	84				
CEP250	11190	broad.mit.edu	37	20	34085680	34085680	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:34085680G>A	uc002xcm.2	+	27	4110	c.3439G>A	c.(3439-3441)GCC>ACC	p.A1147T	CEP250_uc010zve.1_Missense_Mutation_p.A515T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1147	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCCCAGGAAGCCAAGGCAGC	0.662		NaN											0	0	0	0.016723	0	14	10				
CHD6	84181	broad.mit.edu	37	20	40033665	40033665	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:40033665C>G	uc002xka.1	-	37	7894	c.7716G>C	c.(7714-7716)AAG>AAC	p.K2572N	CHD6_uc002xjz.1_Missense_Mutation_p.K109N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2572					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GGCTACTCGGCTTGTCTTCCG	0.502		NaN											0	0	0	0.01441	0	75	189				
MATN4	8785	broad.mit.edu	37	20	43933116	43933116	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:43933116C>T	uc002xnn.2	-	3	582	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	MATN4_uc002xno.2_Missense_Mutation_p.R132Q|MATN4_uc002xnp.2_Missense_Mutation_p.R132Q|MATN4_uc010zwr.1_Missense_Mutation_p.R80Q|MATN4_uc002xnr.1_Missense_Mutation_p.R132Q|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	132	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTCTGGCGGTCGCGCGCCCTC	0.731		NaN											0	0	0	0.001168	0	6	19				
ZMYND8	23613	broad.mit.edu	37	20	45912357	45912357	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:45912357T>C	uc002xta.1	-	9	1034	c.780A>G	c.(778-780)CTA>CTG	p.L260L	ZMYND8_uc010ghr.1_Silent_p.L235L|ZMYND8_uc002xst.1_Silent_p.L235L|ZMYND8_uc002xsu.1_Silent_p.L260L|ZMYND8_uc002xsv.1_Silent_p.L235L|ZMYND8_uc002xsw.1_Silent_p.L12L|ZMYND8_uc002xsx.1_Silent_p.L12L|ZMYND8_uc002xsy.1_Silent_p.L235L|ZMYND8_uc002xsz.1_Silent_p.L197L|ZMYND8_uc010zxy.1_Silent_p.L287L|ZMYND8_uc002xtb.1_Silent_p.L280L|ZMYND8_uc002xss.2_Silent_p.L260L|ZMYND8_uc010zxz.1_Silent_p.L255L|ZMYND8_uc002xtc.1_Silent_p.L280L|ZMYND8_uc002xtd.1_Silent_p.L255L|ZMYND8_uc002xte.1_Silent_p.L260L|ZMYND8_uc010zya.1_Silent_p.L260L|ZMYND8_uc002xtf.1_Silent_p.L280L|ZMYND8_uc002xtg.2_Silent_p.L254L|ZMYND8_uc010ghs.1_Silent_p.L254L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	260							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGCAAGCAGCTAGATAACATT	0.393		NaN											0	0	0	0.016723	0	14	75				
ZMYND8	23613	broad.mit.edu	37	20	45927519	45927519	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:45927519C>A	uc002xta.1	-	4	601	c.347G>T	c.(346-348)AGA>ATA	p.R116I	ZMYND8_uc010ghr.1_Missense_Mutation_p.R91I|ZMYND8_uc002xst.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsu.1_Missense_Mutation_p.R116I|ZMYND8_uc002xsv.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.R91I|ZMYND8_uc002xsz.1_Missense_Mutation_p.R91I|ZMYND8_uc010zxy.1_Missense_Mutation_p.R143I|ZMYND8_uc002xtb.1_Missense_Mutation_p.R136I|ZMYND8_uc002xss.2_Missense_Mutation_p.R116I|ZMYND8_uc010zxz.1_Missense_Mutation_p.R111I|ZMYND8_uc002xtc.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtd.1_Missense_Mutation_p.R111I|ZMYND8_uc002xte.1_Missense_Mutation_p.R116I|ZMYND8_uc010zya.1_Missense_Mutation_p.R116I|ZMYND8_uc002xtf.1_Missense_Mutation_p.R136I|ZMYND8_uc002xtg.2_Missense_Mutation_p.R110I|ZMYND8_uc010ghs.1_Missense_Mutation_p.R110I|ZMYND8_uc002xth.2_Missense_Mutation_p.R136I	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	116	PHD-type.						protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGATGTCAGTCTCAGACACTT	0.502		NaN											1	0	9.17885e-22	0.015359	1.13711e-21	36	24				
NFATC2	4773	broad.mit.edu	37	20	50048713	50048713	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:50048713G>A	uc002xwd.2	-	9	2833	c.2613C>T	c.(2611-2613)AGC>AGT	p.S871S	NFATC2_uc002xwc.2_Silent_p.S871S|NFATC2_uc010zyv.1_Silent_p.S652S|NFATC2_uc010zyw.1_Silent_p.S652S|NFATC2_uc010zyx.1_Silent_p.S851S|NFATC2_uc010zyy.1_Silent_p.S652S|NFATC2_uc010zyz.1_Silent_p.S652S|NFATC2_uc002xwe.2_Silent_p.S851S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	871					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CGGCTCTTTGGCTCGTGGCAT	0.592		NaN											0	0	0	0.01441	0	51	117				
GATA5	140628	broad.mit.edu	37	20	61050567	61050567	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:61050567C>T	uc002ycx.1	-	2	73	c.11G>A	c.(10-12)AGC>AAC	p.S4N		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	4					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CAGCGCCAGGCTCTGGTACAT	0.716		NaN											0	0	0	0.00308	0	5	13				
PTK6	5753	broad.mit.edu	37	20	62162261	62162261	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62162261C>T	uc002yfg.2	-	6	892	c.852G>A	c.(850-852)CTG>CTA	p.L284L	PTK6_uc011aay.1_Silent_p.L183L|PTK6_uc011aaz.1_Silent_p.L46L	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	284	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CCGAAACGGGCAGGACTTTCT	0.622		NaN											0	0	0	0.010818	0	32	15				
ARFRP1	10139	broad.mit.edu	37	20	62337724	62337724	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62337724C>T	uc002yga.2	-	3	816	c.249G>A	c.(247-249)CAG>CAA	p.Q83Q	ARFRP1_uc002ygc.2_Silent_p.Q83Q|ARFRP1_uc002ygh.3_Silent_p.Q83Q|ARFRP1_uc011abf.1_Silent_p.Q83Q|ARFRP1_uc011abg.1_Silent_p.Q83Q|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.Q83Q|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	83					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCACAAAGACTGCAGCTCTT	0.597		NaN											0	0	0	0.01441	0	86	218				
RGS19	10287	broad.mit.edu	37	20	62705211	62705211	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:62705211C>A	uc002yhy.2	-	6	916	c.649G>T	c.(649-651)GCC>TCC	p.A217S	RGS19_uc002yhz.2_Missense_Mutation_p.A195S|RGS19_uc002yia.2_Missense_Mutation_p.A217S|RGS19_uc002yib.2_Missense_Mutation_p.A217S	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	217	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGGCCTAGGCCTCGGAGGAG	0.667		NaN											1	0	9.21137e-24	0.01441	1.15142e-23	68	33				
ADAMTS5	11096	broad.mit.edu	37	21	28296648	28296649	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:28296648_28296649GG>TT	uc002ymg.2	-	8	3245_3246	c.2516_2517CC>AA	c.(2515-2517)CCC>CAA	p.P839Q		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	839	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATGGTTTAGTGGGGTCTGTTGC	0.45		NaN											0	0	0	0.004672	0	55	99				
HUNK	30811	broad.mit.edu	37	21	33297057	33297057	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:33297057C>T	uc002yph.2	+	2	899	c.539C>T	c.(538-540)GCC>GTC	p.A180V		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	180	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CTGCACCGGGCCGGGGTGGTC	0.612		NaN											0	0	0	0.01441	0	59	66				
MORC3	23515	broad.mit.edu	37	21	37721694	37721694	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:37721694C>A	uc002yvi.2	+	9	1167	c.1091C>A	c.(1090-1092)ACT>AAT	p.T364N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	364					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						TTCGACTATACTAATGAGTAC	0.328		NaN											1	0	1.99824e-07	0.00499	2.09645e-07	17	20				
LCA5L	150082	broad.mit.edu	37	21	40795035	40795035	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:40795035A>G	uc002yxu.2	-	5	1017	c.704T>C	c.(703-705)TTA>TCA	p.L235S	LCA5L_uc002yxv.2_Missense_Mutation_p.L235S|LCA5L_uc002yxw.1_Missense_Mutation_p.L235S|LCA5L_uc002yxx.1_Missense_Mutation_p.L97S|LCA5L_uc002yxy.2_RNA	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	235	Potential.										0		Prostate(19;1.2e-06)				AGTCTTCAGTAACTGGCTGTC	0.353		NaN											0	0	0	0.007835	0	39	55				
TMPRSS2	7113	broad.mit.edu	37	21	42845396	42845396	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr21:42845396C>A	uc002yzj.2	-	9	889	c.755G>T	c.(754-756)CGC>CTC	p.R252L	TMPRSS2_uc010gor.2_Missense_Mutation_p.R289L|TMPRSS2_uc010gos.1_Missense_Mutation_p.R252L	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	252	Extracellular (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCTGCTCTGGCGGCTTGAGTT	0.687		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								1	0	3.45872e-05	0.004007	3.54168e-05	5	12				
ARVCF	421	broad.mit.edu	37	22	19965049	19965049	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:19965049G>T	uc002zqz.2	-	9	2030	c.1759C>A	c.(1759-1761)CCC>ACC	p.P587T	ARVCF_uc002zqy.2_Missense_Mutation_p.P109T	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	587	ARM 6.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TCGGCCCCGGGCACCTCCTTG	0.677		NaN											1	0	2.17656e-39	0.01441	2.96803e-39	62	67				
RAB36	9609	broad.mit.edu	37	22	23495282	23495282	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:23495282A>G	uc002zwv.1	+	5	528	c.488A>G	c.(487-489)GAG>GGG	p.E163G	RAB36_uc010gtw.1_Missense_Mutation_p.E141G	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	163					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TTTGAAATTGAGCGCTTTGAG	0.507		NaN											0	0	0	0.01441	0	69	98				
BCR	613	broad.mit.edu	37	22	23626223	23626223	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:23626223G>C	uc002zww.2	+	9	2771	c.2175G>C	c.(2173-2175)CTG>CTC	p.L725L	BCR_uc002zwx.2_Silent_p.L725L|BCR_uc011aiy.1_Silent_p.L314L|BCR_uc010gtx.1_Silent_p.L192L|BCR_uc002zwy.1_Silent_p.L11L	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	725	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CCCGCAAGCTGCGCCACGTCT	0.657		NaN	T	ABL1| FGFR1|JAK2 	CML|ALL|AML								0	0	0	0.009096	0	4	10				
MTMR3	8897	broad.mit.edu	37	22	30416019	30416019	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:30416019G>T	uc003agv.3	+	17	2699	c.2371G>T	c.(2371-2373)GTC>TTC	p.V791F	MTMR3_uc003agu.3_Missense_Mutation_p.V791F|MTMR3_uc003agw.3_Missense_Mutation_p.V791F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	791					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTCCCTGGAGGTCCCTGTGGA	0.537		NaN											1	0	6.4771e-29	0.010771	8.51846e-29	45	64				
RNF215	200312	broad.mit.edu	37	22	30780398	30780398	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:30780398C>T	uc003ahp.2	-	5	674	c.674G>A	c.(673-675)GGC>GAC	p.G225D	RNF215_uc011akw.1_Missense_Mutation_p.G130D	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	225	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						CTTGGAGAGGCCACAGGTGGT	0.602		NaN											0	0	0	0.009718	0	42	45				
SMTN	6525	broad.mit.edu	37	22	31491427	31491427	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:31491427G>A	uc003ajl.1	+	12	1989	c.1771G>A	c.(1771-1773)GTC>ATC	p.V591I	SMTN_uc003ajk.1_Missense_Mutation_p.V591I|SMTN_uc003ajm.1_Missense_Mutation_p.V591I|SMTN_uc011ale.1_Missense_Mutation_p.V676I|SMTN_uc011alf.1_Missense_Mutation_p.V647I|SMTN_uc003ajn.1_Missense_Mutation_p.V614I|SMTN_uc011alg.1_Missense_Mutation_p.V47I|SMTN_uc003ajo.1_Missense_Mutation_p.V190I|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Missense_Mutation_p.V47I	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	591					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GGATGAAGGAGTCTTGGACAA	0.582		NaN											0	0	0	0.004656	0	24	26				
NCF4	4689	broad.mit.edu	37	22	37266564	37266564	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:37266564C>G	uc003apy.3	+	5	634	c.450C>G	c.(448-450)CTC>CTG	p.L150L	NCF4_uc003apz.3_Silent_p.L150L	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	150					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						TCCGCCGGCTCCGCCCGCGCA	0.617		NaN											0	0	0	0.006999	0	33	54				
PNPLA3	80339	broad.mit.edu	37	22	44332964	44332964	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:44332964C>T	uc003bei.1	+	6	964	c.791C>T	c.(790-792)TCA>TTA	p.S264L	PNPLA3_uc010gzm.1_RNA	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	264	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCCTGAAGTCATCCTCAGAA	0.602		NaN											0	0	0	0.016522	0	23	36				
C22orf9	23313	broad.mit.edu	37	22	45601541	45601541	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:45601541C>T	uc003bfx.1	-	4	450	c.384G>A	c.(382-384)GGG>GGA	p.G128G	C22orf9_uc010gzw.1_Intron|C22orf9_uc003bfv.1_Silent_p.G137G|C22orf9_uc003bfw.1_Silent_p.G133G|C22orf9_uc010gzx.2_Silent_p.G110G	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	128							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		TGTGAATGTCCCCGCCGTCAG	0.612		NaN											0	0	0	0.009535	0	29	43				
TUBGCP6	85378	broad.mit.edu	37	22	50658876	50658876	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:50658876T>C	uc003bkb.1	-	16	4424	c.3912A>G	c.(3910-3912)TCA>TCG	p.S1304S	TUBGCP6_uc003bka.1_Silent_p.S391S|TUBGCP6_uc010har.1_Silent_p.S1296S|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1304					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCTGAGCGCTGACTGGGACG	0.682		NaN											0	0	0	0.004007	0	15	26				
MAPK12	6300	broad.mit.edu	37	22	50694610	50694610	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:50694610C>G	uc003bkm.1	-	7	674	c.523G>C	c.(523-525)GCC>CCC	p.A175P	MAPK12_uc003bkn.2_5'UTR|MAPK12_uc003bko.2_Missense_Mutation_p.A85P|MAPK12_uc003bkl.1_Missense_Mutation_p.A165P|MAPK12_uc003bkp.2_5'Flank|MAPK12_uc003bkq.2_5'UTR	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	175	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGCCTGGCCAGGCCGAAG	0.637		NaN											0	0	0	0.005443	0	27	46				
MAPK8IP2	23542	broad.mit.edu	37	22	51044009	51044009	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr22:51044009G>T	uc003bmx.2	+	8	1978	c.1861G>T	c.(1861-1863)GAC>TAC	p.D621Y	MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D594Y|MAPK8IP2_uc011asc.1_5'UTR	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	621	SH3.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGCATCCAGACGAGCTGGA	0.652		NaN											1	0	0.00198382	0.001984	0.00200185	7	9				
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:2908487G>A	uc003bpc.2	+	7	727	c.506G>A	c.(505-507)CGC>CAC	p.R169H	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R169H	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	169	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388		NaN											0	0	0	0.01441	0	63	123				
VGLL4	9686	broad.mit.edu	37	3	11600188	11600188	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:11600188C>G	uc003bwf.2	-	6	1081	c.715G>C	c.(715-717)GAC>CAC	p.D239H	VGLL4_uc010hdx.1_Missense_Mutation_p.D245H|VGLL4_uc003bwg.2_Missense_Mutation_p.D244H|VGLL4_uc010hdv.1_Missense_Mutation_p.D155H|VGLL4_uc010hdw.1_Missense_Mutation_p.D159H|VGLL4_uc011aun.1_Missense_Mutation_p.D180H	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCAAAGTGGTCGTCCACGGAG	0.642		NaN											0	0	0	0.01441	0	123	146				
KCNH8	131096	broad.mit.edu	37	3	19389402	19389402	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:19389402C>A	uc003cbk.1	+	5	951	c.756C>A	c.(754-756)TCC>TCA	p.S252S	KCNH8_uc011awe.1_Silent_p.S252S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	252	Extracellular (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						ACGACCTGTCCACAACTCGGA	0.418		NaN											1	0	1.47544e-110	0.01441	2.12142e-110	239	113				
EFHB	151651	broad.mit.edu	37	3	19925991	19925991	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:19925991G>C	uc003cbl.3	-	11	2246	c.2050C>G	c.(2050-2052)CTC>GTC	p.L684V	EFHB_uc003cbm.2_Missense_Mutation_p.L554V	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	684					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						AGTGTCCGGAGAGTCTTTTCT	0.393		NaN											0	0	0	0.011902	0	46	124				
NEK10	152110	broad.mit.edu	37	3	27326389	27326389	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:27326389G>T	uc003cdt.1	-	22	2127	c.1853C>A	c.(1852-1854)TCT>TAT	p.S618Y	NEK10_uc003cds.1_Missense_Mutation_p.S15Y	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	618	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TTCCTTCAAAGAACTGAAATG	0.313		NaN											1	0	4.22769e-11	0.00632	4.67404e-11	25	131				
SCN5A	6331	broad.mit.edu	37	3	38649641	38649641	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:38649641C>T	uc003cio.2	-	8	1192	c.998_splice	c.e8+1	p.G333_splice	SCN5A_uc003cin.2_Splice_Site_p.G333_splice|SCN5A_uc003cil.3_Splice_Site_p.G333_splice|SCN5A_uc010hhi.2_Splice_Site_p.G333_splice|SCN5A_uc010hhk.2_Splice_Site_p.G333_splice|SCN5A_uc011ayr.1_Splice_Site_p.G333_splice|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha						blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCCACATACCCAGCGTCAG	0.522		NaN											0	0	0	0.01441	0	228	129				
CELSR3	1951	broad.mit.edu	37	3	48684347	48684347	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:48684347T>C	uc003cul.2	-	21	7425	c.7144A>G	c.(7144-7146)AGC>GGC	p.S2382G	CELSR3_uc003cuf.1_Missense_Mutation_p.S2452G|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.S365G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2382	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTATGCTGCTGCTTGTGGGC	0.572		NaN											0	0	0	0.004482	0	9	2				
HTR1F	3355	broad.mit.edu	37	3	88039908	88039908	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:88039908C>A	uc003dqr.2	+	2	167	c.9C>A	c.(7-9)TTC>TTA	p.F3L		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	3	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATGGATTTCTTAAATTCAT	0.368		NaN											1	0	6.97489e-18	0.021022	8.34281e-18	38	65				
SIDT1	54847	broad.mit.edu	37	3	113286403	113286403	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:113286403A>G	uc003eak.2	+	3	1012	c.361A>G	c.(361-363)AAC>GAC	p.N121D	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.N121D|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	121	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GAGGAGCTACAACTATCAAGA	0.468		NaN											0	0	0	0.01441	0	59	101				
LSAMP	4045	broad.mit.edu	37	3	115805390	115805390	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:115805390C>A	uc003ebt.2	-	2	669	c.169G>T	c.(169-171)GAC>TAC	p.D57Y	LSAMP_uc011bis.1_Missense_Mutation_p.D57Y	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	57	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAGTTCTTGTCTTCTACAACG	0.458		NaN											1	0	1.76056e-25	0.011902	2.23595e-25	40	27				
ARHGAP31	57514	broad.mit.edu	37	3	119128361	119128361	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:119128361C>A	uc003ecj.3	+	11	2196	c.1664C>A	c.(1663-1665)GCA>GAA	p.A555E		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	555					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCTAAGAAGGCAGGTCTTGAG	0.517		NaN											1	0	1.05317e-09	0.020292	1.13718e-09	14	29				
KALRN	8997	broad.mit.edu	37	3	124048787	124048787	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:124048787C>G	uc003ehg.2	+	8	1485	c.1358C>G	c.(1357-1359)GCA>GGA	p.A453G	KALRN_uc010hrv.1_Missense_Mutation_p.A453G|KALRN_uc003ehf.1_Missense_Mutation_p.A453G|KALRN_uc011bjy.1_Missense_Mutation_p.A453G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	453					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTAGAGCTGGCAATCCACCAC	0.562		NaN											0	0	0	0.01441	0	71	71				
PLXND1	23129	broad.mit.edu	37	3	129284333	129284333	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:129284333C>A	uc003emx.2	-	25	4471	c.4371G>T	c.(4369-4371)GAG>GAT	p.E1457D	PLXND1_uc011blb.1_Missense_Mutation_p.E125D	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1457	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGGTGTAGTACTCCAGCTTGC	0.632		NaN											1	0	2.69673e-31	0.01441	3.58059e-31	67	54				
MRPL3	11222	broad.mit.edu	37	3	131208827	131208827	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:131208827G>T	uc003eoh.2	-	5	730	c.566C>A	c.(565-567)CCA>CAA	p.P189Q	MRPL3_uc011blo.1_Missense_Mutation_p.P84Q|MRPL3_uc011blp.1_Missense_Mutation_p.P216Q	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	189					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CAAATTACCTGGTTTAATTGC	0.363		NaN											1	0	1.61879e-10	0.013537	1.76509e-10	11	17				
P2RY14	9934	broad.mit.edu	37	3	150931787	150931787	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:150931787G>A	uc003eyr.1	-	3	796	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.Y106Y	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	106	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAATGCTGACGTACATGTTGA	0.458		NaN											0	0	0	0.019004	0	38	33				
GMPS	8833	broad.mit.edu	37	3	155615800	155615800	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:155615800G>T	uc003faq.2	+	3	629	c.294G>T	c.(292-294)AAG>AAT	p.K98N	GMPS_uc011bom.1_Intron	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	98	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTATTGGCAAGCCTGTTCTTG	0.368		NaN	T	MLL	AML								1	0	1.09856e-86	0.01441	1.57546e-86	152	156				
TRIM59	286827	broad.mit.edu	37	3	160156689	160156689	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:160156689C>A	uc003fdm.2	-	3	478	c.283G>T	c.(283-285)GTC>TTC	p.V95F	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	95	B box-type.					integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGCAGGTGACAATATCTGGA	0.363		NaN											1	0	1.47244e-24	0.00623	1.85729e-24	39	58				
SLITRK3	22865	broad.mit.edu	37	3	164907895	164907895	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:164907895G>T	uc003fej.3	-	2	1168	c.724C>A	c.(724-726)CAA>AAA	p.Q242K	SLITRK3_uc003fek.2_Missense_Mutation_p.Q242K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	242	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CTCTTCAGTTGTACAATTTCA	0.463		NaN								HNSCC(40;0.11)			1	0	1.23713e-20	0.01441	1.51569e-20	47	93				
MAP3K13	9175	broad.mit.edu	37	3	185198111	185198111	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:185198111G>A	uc010hyf.2	+	14	2859	c.2593G>A	c.(2593-2595)GAC>AAC	p.D865N	MAP3K13_uc011brt.1_Missense_Mutation_p.D658N|MAP3K13_uc011bru.1_Missense_Mutation_p.D721N|MAP3K13_uc003fpi.2_Missense_Mutation_p.D865N|MAP3K13_uc010hyg.2_Missense_Mutation_p.D555N	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	865					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAATACCAGTGACCACTCAAA	0.488		NaN											0	0	0	0.01441	0	86	77				
CCDC50	152137	broad.mit.edu	37	3	191074896	191074896	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:191074896C>T	uc003fsw.2	+	2	659	c.69C>T	c.(67-69)GTC>GTT	p.V23V	CCDC50_uc003fsv.2_Silent_p.V23V	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	23						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		ATTTTGCTGTCCTGGAGGACC	0.398		NaN											0	0	0	0.008361	0	28	51				
PCYT1A	5130	broad.mit.edu	37	3	195968895	195968895	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:195968895C>T	uc003fwg.2	-	8	805	c.632G>A	c.(631-633)CGG>CAG	p.R211Q	PCYT1A_uc003fwh.2_Missense_Mutation_p.R211Q	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	211	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	ATCATAATCCCGCACAATTCG	0.488		NaN											0	0	0	0.01441	0	54	97				
ZNF141	7700	broad.mit.edu	37	4	367619	367619	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:367619C>A	uc003gaa.2	+	5	1571	c.1393C>A	c.(1393-1395)CAC>AAC	p.H465N	ZNF141_uc003gab.2_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	zinc finger protein 141	465	C2H2-type 11.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0						ACGGTTCTCACACCTGAATAA	0.333		NaN											1	0	1.47857e-17	0.01441	1.76475e-17	49	50				
FAM53A	152877	broad.mit.edu	37	4	1656734	1656734	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1656734G>A	uc011bve.1	-	4	1051	c.853C>T	c.(853-855)CCA>TCA	p.P285S	FAM53A_uc010ibw.2_Missense_Mutation_p.P285S	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	285						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCCAAGGATGGGCGTGTCCAC	0.647		NaN											0	0	0	0.007291	0	27	54				
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1803564C>T	uc003gdr.3	+	7	998	c.742C>T	c.(742-744)CGC>TGC	p.R248C	FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	248	Extracellular (Potential).		R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.567		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00308	0	6	37		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.006214	0	7	37		Valid		
STX18	53407	broad.mit.edu	37	4	4459161	4459161	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:4459161T>A	uc003gic.2	-	4	503	c.419A>T	c.(418-420)GAT>GTT	p.D140V		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	140	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTTCAAGTAATCTTCAATGAA	0.378		NaN											0	0	0	0.010818	0	32	21				
ACOX3	8310	broad.mit.edu	37	4	8383332	8383332	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:8383332C>T	uc010idk.2	-	14	1685	c.1540G>A	c.(1540-1542)GCC>ACC	p.A514T	ACOX3_uc003glc.3_Missense_Mutation_p.A514T|ACOX3_uc003gld.3_Missense_Mutation_p.A514T|ACOX3_uc003gle.1_Missense_Mutation_p.A419T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	514					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						GCTGCCAGGGCGACTTCGGAA	0.398		NaN											0	0	0	0.004656	0	27	44				
WDR1	9948	broad.mit.edu	37	4	10084738	10084738	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:10084738C>A	uc003gmf.2	-	10	1387	c.1104G>T	c.(1102-1104)GTG>GTT	p.V368V	WDR1_uc003gmg.2_Silent_p.V228V|WDR1_uc010idm.2_RNA	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	368	WD 7.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TCATCCTGGACACCTGGTTCG	0.602		NaN											1	0	5.03518e-11	0.007413	5.5447e-11	18	26				
WDR1	9948	broad.mit.edu	37	4	10100674	10100674	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:10100674C>A	uc003gmf.2	-	4	602	c.319G>T	c.(319-321)GAC>TAC	p.D107Y	WDR1_uc003gmg.2_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	107	WD 2.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAAGCAATGTCTTTGATCTTC	0.557		NaN											1	0	2.0833e-19	0.01441	2.51355e-19	50	79				
AMBN	258	broad.mit.edu	37	4	71472154	71472154	+	Missense_Mutation	SNP	G	G	A	rs141401324		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:71472154G>A	uc003hfl.2	+	13	1126	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	351					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			TGCTCCCCACGCAGGGCTCCT	0.587		NaN											0	0	0	0.008291	0	11	40				
NPFFR2	10886	broad.mit.edu	37	4	73013158	73013158	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:73013158G>A	uc003hgg.2	+	4	1296	c.1198G>A	c.(1198-1200)GAC>AAC	p.D400N	NPFFR2_uc010iig.1_Missense_Mutation_p.D182N|NPFFR2_uc003hgi.2_Missense_Mutation_p.D301N|NPFFR2_uc003hgh.2_Missense_Mutation_p.D298N|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	400	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GATGCTCTCAGACTACGCTGA	0.478		NaN											0	0	0	0.01441	0	49	49				
PARM1	25849	broad.mit.edu	37	4	75937717	75937717	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:75937717G>T	uc003hih.1	+	2	366	c.126G>T	c.(124-126)TGG>TGT	p.W42C		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	42	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						CCACCATCTGGACTAGCTCTC	0.522		NaN											1	0	2.80507e-11	0.012213	3.11363e-11	32	56				
WDFY3	23001	broad.mit.edu	37	4	85598394	85598394	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:85598394C>G	uc003hpd.2	-	67	10823	c.10415G>C	c.(10414-10416)AGA>ACA	p.R3472T	WDFY3_uc003hpc.2_Missense_Mutation_p.R227T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3472	FYVE-type.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGTGTCGTCTTTCTGTGAG	0.468		NaN											0	0	0	0.005524	0	35	71				
MMRN1	22915	broad.mit.edu	37	4	90856744	90856744	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:90856744A>G	uc003hst.2	+	6	1984	c.1913A>G	c.(1912-1914)CAA>CGA	p.Q638R	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.Q380R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	638	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGAGTGAGCAACTAAATGAT	0.378		NaN											0	0	0	0.005524	0	38	66				
GRID2	2895	broad.mit.edu	37	4	94343960	94343960	+	Silent	SNP	T	T	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:94343960T>A	uc011cdt.1	+	10	1644	c.1386T>A	c.(1384-1386)GGT>GGA	p.G462G	GRID2_uc011cdu.1_Silent_p.G367G	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	462	Extracellular (Potential).			G -> C (in Ref. 1; AAC39579).	glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATGTCTTGGGTAAGCCGAAGA	0.383		NaN											0	0	0	0.013726	0	33	33				
UNC5C	8633	broad.mit.edu	37	4	96222783	96222783	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:96222783C>T	uc003htp.1	-	3	618	c.464G>A	c.(463-465)AGC>AAC	p.S155N	UNC5C_uc010ilc.1_Missense_Mutation_p.S155N|UNC5C_uc003htq.2_Missense_Mutation_p.S155N	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	155	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCCTTCCGGCTCTTTGTGGT	0.498		NaN											0	0	0	0.01441	0	49	40				
NPNT	255743	broad.mit.edu	37	4	106858277	106858277	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:106858277C>T	uc003hya.2	+	4	582	c.377C>T	c.(376-378)TCC>TTC	p.S126F	NPNT_uc011cfc.1_Missense_Mutation_p.S143F|NPNT_uc011cfd.1_Missense_Mutation_p.S156F|NPNT_uc011cfe.1_Missense_Mutation_p.S156F|NPNT_uc010ilt.1_Missense_Mutation_p.S126F|NPNT_uc011cff.1_Missense_Mutation_p.S126F|NPNT_uc010ilu.1_Missense_Mutation_p.S22F	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	126	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCGGATGGTTCCTGCTCAAGT	0.488		NaN											0	0	0	0.019004	0	35	95				
ANK2	287	broad.mit.edu	37	4	114276414	114276414	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:114276414C>A	uc003ibe.3	+	38	6740	c.6640C>A	c.(6640-6642)CCG>ACG	p.P2214T	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P2229T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2181					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCGGCTCTCCGTGTGGCAG	0.517		NaN											1	0	1.07234e-20	0.01441	1.31671e-20	50	74				
C4orf31	79625	broad.mit.edu	37	4	121958321	121958321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:121958321G>A	uc003idq.1	-	4	1332	c.805C>T	c.(805-807)CAG>TAG	p.Q269*		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	269	Fibronectin type-III 1.										0						GGCTTTGCCTGGAAACTGCGT	0.463		NaN											0	0	0	0.01892	0	24	41				
FAT4	79633	broad.mit.edu	37	4	126336381	126336381	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:126336381C>T	uc003ifj.3	+	5	6263	c.6263C>T	c.(6262-6264)ACT>ATT	p.T2088I	FAT4_uc011cgp.1_Missense_Mutation_p.T386I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2088	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTGAGTACACTCTGCTGAAC	0.403		NaN											0	0	0	0.01441	0	97	91				
ZNF827	152485	broad.mit.edu	37	4	146807045	146807045	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:146807045C>A	uc003ikn.2	-	4	1580	c.1532G>T	c.(1531-1533)AGC>ATC	p.S511I	ZNF827_uc003ikm.2_Missense_Mutation_p.S511I|ZNF827_uc010iox.2_Missense_Mutation_p.S161I	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CCCTCCCTGGCTAGTCCTCTC	0.602		NaN											1	0	4.96213e-28	0.01441	6.41954e-28	57	47				
DCHS2	54798	broad.mit.edu	37	4	155158070	155158070	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:155158070C>A	uc003inw.2	-	25	6369	c.6369G>T	c.(6367-6369)TGG>TGT	p.W2123C		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2123	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCACGGGTCCAGTCATGGT	0.378		NaN											1	0	6.3091e-27	0.01441	8.06809e-27	58	70				
FSTL5	56884	broad.mit.edu	37	4	162463736	162463736	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:162463736C>T	uc003iqh.2	-	9	1561	c.1125G>A	c.(1123-1125)TTG>TTA	p.L375L	FSTL5_uc003iqi.2_Silent_p.L374L|FSTL5_uc010iqv.2_Silent_p.L374L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	375	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCATTCTTCAACCAGCCAA	0.443		NaN											0	0	0	0.009718	0	42	59				
WDR17	116966	broad.mit.edu	37	4	177098267	177098267	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:177098267G>A	uc003iuj.2	+	29	3781	c.3625G>A	c.(3625-3627)GAA>AAA	p.E1209K	WDR17_uc003iuk.2_Missense_Mutation_p.E1185K|WDR17_uc003ium.3_Missense_Mutation_p.E1170K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E420K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1209										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTTTCTGAGGAATTGGATGC	0.363		NaN											0	0	0	0.021523	0	21	48				
SNX25	83891	broad.mit.edu	37	4	186188167	186188167	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:186188167A>G	uc003ixh.2	+	5	646	c.457A>G	c.(457-459)AAC>GAC	p.N153D		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	153	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGATTACATTAACCAAATGCT	0.453		NaN											0	0	0	0.006999	0	37	65				
TRIML1	339976	broad.mit.edu	37	4	189068457	189068457	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:189068457C>A	uc003izm.1	+	6	1453	c.1338C>A	c.(1336-1338)TCC>TCA	p.S446S	TRIML1_uc003izn.1_Silent_p.S170S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTATCTTTTCCCCCTGCCTCC	0.562		NaN											1	0	8.69298e-16	0.006999	1.00933e-15	40	90				
SLC12A7	10723	broad.mit.edu	37	5	1064299	1064299	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:1064299G>T	uc003jbu.2	-	19	2572	c.2506C>A	c.(2506-2508)CAA>AAA	p.Q836K		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	836					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCTGGTTTTGCGGAAACGAG	0.672		NaN											1	0	2.23348e-06	0.004007	2.31698e-06	15	29				
SLC6A3	6531	broad.mit.edu	37	5	1441523	1441523	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:1441523G>T	uc003jck.2	-	3	490	c.369C>A	c.(367-369)TTC>TTA	p.F123L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	123					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTCCCTGTTGAACTGGCCGA	0.587		NaN											1	0	6.50621e-10	0.013726	7.05263e-10	33	23				
CCT5	22948	broad.mit.edu	37	5	10254301	10254301	+	Silent	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:10254301A>C	uc003jeq.2	+	2	321	c.150A>C	c.(148-150)ACA>ACC	p.T50T	CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Silent_p.T50T|CCT5_uc010its.2_Silent_p.T50T|CCT5_uc011cmr.1_Silent_p.T50T|CCT5_uc011cms.1_Silent_p.T12T|CCT5_uc011cmt.1_Silent_p.T12T	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	50					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						CAATGAGAACATCACTTGGAC	0.328		NaN											0	0	0	0.01892	0	22	33				
CTNND2	1501	broad.mit.edu	37	5	11199772	11199772	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:11199772A>C	uc003jfa.1	-	11	1908	c.1763T>G	c.(1762-1764)ATA>AGA	p.I588R	CTNND2_uc010itt.2_Missense_Mutation_p.I497R|CTNND2_uc011cmy.1_Missense_Mutation_p.I251R|CTNND2_uc011cmz.1_Missense_Mutation_p.I155R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I155R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	588	ARM 3.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTGTCTCCTTATCTGAAAGAG	0.448		NaN											0	0	0	0.007413	0	20	30				
FBXL7	23194	broad.mit.edu	37	5	15928355	15928355	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:15928355G>A	uc003jfn.1	+	3	965	c.484G>A	c.(484-486)GAG>AAG	p.E162K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	162					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCTGACGGGCGAGACCATCAA	0.662		NaN											0	0	0	0.001168	0	6	13				
ADAMTS12	81792	broad.mit.edu	37	5	33576746	33576746	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:33576746A>T	uc003jia.1	-	19	3548	c.3385T>A	c.(3385-3387)TTG>ATG	p.L1129M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1044M	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1129	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GAAGATGACAAGCCAGAACCA	0.483		NaN								HNSCC(64;0.19)			0	0	0	0.007291	0	30	68				
SPEF2	79925	broad.mit.edu	37	5	35700720	35700720	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:35700720A>C	uc003jjo.2	+	16	2375	c.2264A>C	c.(2263-2265)AAA>ACA	p.K755T	SPEF2_uc003jjq.3_Missense_Mutation_p.K750T|SPEF2_uc003jjp.1_Missense_Mutation_p.K241T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	755	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAGAAAAAAAGCACAAAAA	0.383		NaN											0	0	0	0.016723	0	12	38				
ITGA1	3672	broad.mit.edu	37	5	52183724	52183724	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:52183724C>G	uc003jou.2	+	8	903	c.851C>G	c.(850-852)TCT>TGT	p.S284C	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	284	Extracellular (Potential).|VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GATGGAGAGTCTCATGACAAT	0.423		NaN											0	0	0	0.013537	0	11	49				
DMXL1	1657	broad.mit.edu	37	5	118485427	118485427	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:118485427C>A	uc003ksd.2	+	18	4086	c.3905C>A	c.(3904-3906)CCT>CAT	p.P1302H	DMXL1_uc010jcl.1_Missense_Mutation_p.P1302H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1302										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCATTCGATCCTTCAGTGGAT	0.438		NaN											1	0	2.76378e-25	0.01441	3.50206e-25	51	20				
MEGF10	84466	broad.mit.edu	37	5	126754869	126754869	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:126754869C>T	uc003kuh.3	+	12	1725	c.1363C>T	c.(1363-1365)CGC>TGC	p.R455C	MEGF10_uc010jdc.1_Missense_Mutation_p.R455C|MEGF10_uc010jdd.1_Missense_Mutation_p.R455C|MEGF10_uc003kui.3_Missense_Mutation_p.R455C	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	455	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 8.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTTCCTCTCGCTGTGGCTG	0.458		NaN											0	0	0	0.021523	0	23	107				
C5orf56	441108	broad.mit.edu	37	5	131821922	131821922	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:131821922C>A	uc010jds.1	+	4	258	c.83C>A	c.(82-84)GCC>GAC	p.A28D	IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron			Q8N8D9	CE056_HUMAN	Homo sapiens full length insert cDNA clone ZA99C08.	Error:Variant_position_missing_in_Q8N8D9_after_alignment											0						AGCAGGCAGGCCAGGCCCCAG	0.557		NaN											1	0	2.32078e-09	0.003163	2.49619e-09	14	70				
PCDHA1	56147	broad.mit.edu	37	5	140167598	140167598	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140167598G>A	uc003lhb.2	+	1	1723	c.1723G>A	c.(1723-1725)GGT>AGT	p.G575S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.G575S	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTATTGGTGCAGTCAG	0.672		NaN											0	0	0	0.01441	0	91	44				
PCDHA6	56142	broad.mit.edu	37	5	140209725	140209725	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140209725G>A	uc003lho.2	+	1	2076	c.2049G>A	c.(2047-2049)TCG>TCA	p.S683S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S683S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	683	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGTCGGTGGGCGCCG	0.667		NaN											0	0	0	0.01441	0	80	30				
PCDHGA6	56109	broad.mit.edu	37	5	140755960	140755960	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:140755960C>A	uc003ljy.1	+	1	2310	c.2310C>A	c.(2308-2310)TTC>TTA	p.F770L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.F770L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	770	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGATTTTCCCCCAGCCCA	0.517		NaN											1	0	3.89792e-41	0.01441	5.3416e-41	80	30				
FAT2	2196	broad.mit.edu	37	5	150925116	150925116	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:150925116C>G	uc003lue.3	-	9	5585	c.5572G>C	c.(5572-5574)GTC>CTC	p.V1858L	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1858	Extracellular (Potential).|Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATGATGACTTGGGCAGGT	0.463		NaN											0	0	0	0.00499	0	17	66				
FAT2	2196	broad.mit.edu	37	5	150945387	150945387	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:150945387C>A	uc003lue.3	-	1	3119	c.3106G>T	c.(3106-3108)GTG>TTG	p.V1036L	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.V1036L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1036	Cadherin 9.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTGGTGCACGAAGGAGGCA	0.602		NaN											1	0	2.17888e-05	0.006214	2.23526e-05	9	44				
KIF4B	285643	broad.mit.edu	37	5	154393911	154393911	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:154393911G>T	uc010jih.1	+	1	652	c.492G>T	c.(490-492)CGG>CGT	p.R164R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	164	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAAATATACGGGAGGATCCTA	0.388		NaN											1	0	2.89027e-11	0.014323	3.20179e-11	19	124				
DOCK2	1794	broad.mit.edu	37	5	169101351	169101351	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:169101351G>C	uc003maf.2	+	6	452	c.372G>C	c.(370-372)CTG>CTC	p.L124L	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	124					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTACGATCTGATGGAGTGGA	0.478		NaN											0	0	0	0.01441	0	50	23				
SLC34A1	6569	broad.mit.edu	37	5	176815166	176815166	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:176815166G>T	uc003mgk.3	+	7	917	c.816G>T	c.(814-816)GAG>GAT	p.E272D		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	272	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATCACAGAGCCCTTCACGA	0.597		NaN											1	0	7.63091e-17	0.007835	9.01097e-17	41	13				
GRM6	2916	broad.mit.edu	37	5	178410002	178410002	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr5:178410002G>A	uc003mjr.2	-	9	2524	c.2345C>T	c.(2344-2346)GCC>GTC	p.A782V	GRM6_uc003mjq.2_Missense_Mutation_p.A185V	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	782	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GATGGGCTTGGCCTCGTTGAA	0.587		NaN											0	0	0	0.01441	0	78	26				
HUS1B	135458	broad.mit.edu	37	6	656803	656803	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:656803C>G	uc003mtg.2	-	1	162	c.142G>C	c.(142-144)GGC>CGC	p.G48R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	48											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TCGTGGAGGCCGCCGGAACCC	0.667		NaN											0	0	0	0.020292	0	14	7				
TUBB2A	7280	broad.mit.edu	37	6	3154784	3154784	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:3154784C>G	uc003mvc.2	-	4	737	c.651G>C	c.(649-651)CTG>CTC	p.L217L	TUBB2A_uc003mvb.2_Silent_p.L210L|TUBB2A_uc003mvd.2_Silent_p.L180L	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	217					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGGGGTGGTCAGCTTCAGGG	0.612		NaN											0	0	0	0.01441	0	49	71				
RANBP9	10048	broad.mit.edu	37	6	13644837	13644837	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:13644837G>A	uc003nbb.2	-	6	1111	c.1052C>T	c.(1051-1053)GCA>GTA	p.A351V	RANBP9_uc003nba.2_Missense_Mutation_p.A10V	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	351					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATCTATCTGTGCCTGGATTTT	0.413		NaN											0	0	0	0.01441	0	73	90				
C6orf62	81688	broad.mit.edu	37	6	24716501	24716501	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:24716501T>G	uc003nel.2	-	2	688	c.181A>C	c.(181-183)AAT>CAT	p.N61H		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	61						intracellular					0						TCATAATTATTTGTCATGACT	0.398		NaN											0	0	0	0.013726	0	34	34				
PPP1R10	5514	broad.mit.edu	37	6	30571979	30571979	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:30571979C>A	uc003nqn.1	-	14	1866	c.1314G>T	c.(1312-1314)CTG>CTT	p.L438L	PPP1R10_uc010jsc.1_Silent_p.L92L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	438	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GTCGGTCTGACAGTATCTCTC	0.542		NaN											1	0	9.04393e-38	0.01441	1.23024e-37	68	72				
TNXB	7148	broad.mit.edu	37	6	31978813	31978813	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:31978813C>T	uc011dpc.1	-	4	1585	c.676G>A	c.(676-678)GAG>AAG	p.E226K	STK19_uc003nza.2_5'Flank|STK19_uc003nzb.2_5'Flank	NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	3842	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCTGAGGCTCCCCTGAAAAC	0.637		NaN											0	0	0	0.01441	0	51	48				
MDFI	4188	broad.mit.edu	37	6	41621214	41621214	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:41621214G>T	uc003oqp.3	+	6	971	c.642G>T	c.(640-642)CTG>CTT	p.L214L	MDFI_uc003oqq.3_Silent_p.L214L|MDFI_uc010jxn.2_Silent_p.L214L	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	214	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTGCGACCTGCCCTGCGACC	0.657		NaN											1	0	3.46703e-50	0.01441	4.8714e-50	97	112				
PRPH2	5961	broad.mit.edu	37	6	42689673	42689673	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:42689673G>T	uc003osk.2	-	1	686	c.400C>A	c.(400-402)CTC>ATC	p.L134I		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	134	Lumenal (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCGTTCTTGAGCCCTTGGCCC	0.542		NaN											1	0	1.30293e-26	0.015359	1.66236e-26	33	43				
COL19A1	1310	broad.mit.edu	37	6	70890380	70890380	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:70890380G>T	uc003pfc.1	+	44	2857	c.2740G>T	c.(2740-2742)GGT>TGT	p.G914C		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	914	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TGGAGATATAGGTTTCCCTGG	0.398		NaN											1	0	2.56662e-36	0.013114	3.47432e-36	40	46				
IMPG1	3617	broad.mit.edu	37	6	76751757	76751757	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:76751757A>G	uc003pik.1	-	2	284	c.154T>C	c.(154-156)TAC>CAC	p.Y52H		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	52					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GACATTTTGTACATTTTTTCA	0.358		NaN											0	0	0	0.01441	0	59	55				
SNX14	57231	broad.mit.edu	37	6	86227735	86227735	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:86227735T>C	uc003pkr.2	-	22	2332	c.2139A>G	c.(2137-2139)CTA>CTG	p.L713L	SNX14_uc003pkp.2_Silent_p.L576L|SNX14_uc003pkq.2_Silent_p.L319L|SNX14_uc011dzg.1_Silent_p.L661L|SNX14_uc003pks.2_Silent_p.L660L|SNX14_uc003pkt.2_Silent_p.L704L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	713					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CCTCTTTCATTAGTTTTCCAG	0.254		NaN											0	0	0	0.01441	0	45	55				
SFRS13B	135295	broad.mit.edu	37	6	89808433	89808433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:89808433G>A	uc003pmy.3	-	5	844	c.650C>T	c.(649-651)TCT>TTT	p.S217F		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	serine-arginine repressor protein	217	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding				0						TATTGAGTCAGAATGTCTTCC	0.398		NaN											0	0	0	0.01441	0	76	80				
GABRR1	2569	broad.mit.edu	37	6	89910940	89910940	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:89910940G>T	uc003pna.2	-	3	673	c.218C>A	c.(217-219)ACA>AAA	p.T73K	GABRR1_uc011dzv.1_Missense_Mutation_p.T50K	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	73	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTCTGACTTTGTCAGAGGCGA	0.473		NaN											1	0	2.25582e-47	0.01441	3.12214e-47	73	105				
BACH2	60468	broad.mit.edu	37	6	90661238	90661238	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:90661238G>T	uc011eab.1	-	7	1396	c.587C>A	c.(586-588)GCC>GAC	p.A196D	BACH2_uc003pnw.2_Missense_Mutation_p.A196D|BACH2_uc010kch.2_Missense_Mutation_p.A196D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	196						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TACGGGGATGGCGGCGGCCTC	0.602		NaN											1	0	1.86277e-20	0.01441	2.26719e-20	53	57				
GRIK2	2898	broad.mit.edu	37	6	102372594	102372594	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:102372594G>A	uc003pqp.3	+	12	2116	c.1867G>A	c.(1867-1869)GGT>AGT	p.G623S	GRIK2_uc003pqo.3_Missense_Mutation_p.G623S|GRIK2_uc010kcw.2_Missense_Mutation_p.G623S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	623	Cytoplasmic (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CATGCAGCAAGGTATACGATT	0.498		NaN											0	0	0	0.004007	0	14	46				
LAMA2	3908	broad.mit.edu	37	6	129636975	129636975	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:129636975T>C	uc003qbn.2	+	26	3909	c.3804T>C	c.(3802-3804)TCT>TCC	p.S1268S	LAMA2_uc003qbo.2_Silent_p.S1268S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1268	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGGTTTCTCTACATATAATC	0.438		NaN											0	0	0	0.01441	0	62	58				
PEX3	8504	broad.mit.edu	37	6	143784110	143784110	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:143784110G>A	uc003qjl.2	+	3	525	c.263G>A	c.(262-264)AGC>AAC	p.S88N	PEX3_uc011edx.1_Missense_Mutation_p.S88N	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	88	Peroxisomal (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AATTCCGAGAGCCTCACAGCT	0.358		NaN											0	0	0	0.00874	0	38	33				
PSMB1	5689	broad.mit.edu	37	6	170862291	170862291	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:170862291C>G	uc011ehe.1	-	1	127	c.40G>C	c.(40-42)GAC>CAC	p.D14H	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	14					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	ATCCCCAAGTCTCTGCCAGGA	0.597		NaN											0	0	0	0.006214	0	7	19				
EIF3B	8662	broad.mit.edu	37	7	2404033	2404033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:2404033G>A	uc003slx.2	+	6	1109	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	EIF3B_uc003sly.2_Nonsense_Mutation_p.W342*|EIF3B_uc003slz.1_Nonsense_Mutation_p.W303*|EIF3B_uc003sma.2_Nonsense_Mutation_p.W70*	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	342	Sufficient for interaction with EIF3E.|WD 1.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGTGCGTTGGTCTCCTAAGG	0.463		NaN											0	0	0	0.01441	0	97	95				
SDK1	221935	broad.mit.edu	37	7	4153858	4153858	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:4153858G>T	uc003smx.2	+	25	3914	c.3775G>T	c.(3775-3777)GGG>TGG	p.G1259W	SDK1_uc010kso.2_Missense_Mutation_p.G535W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1259	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAACGCCGTCGGGGCTGGGCC	0.642		NaN											1	0	2.44723e-14	0.004656	2.81204e-14	26	21				
RBAK	57786	broad.mit.edu	37	7	5103373	5103373	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:5103373G>A	uc010kss.1	+	6	610	c.286G>A	c.(286-288)GAC>AAC	p.D96N	LOC389458_uc003snr.2_Missense_Mutation_p.D96N|RBAK_uc003sns.1_Missense_Mutation_p.D96N	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	96					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAAAACGAAGACAAACATTC	0.363		NaN											0	0	0	0.012319	0	19	28				
MIOS	54468	broad.mit.edu	37	7	7636000	7636000	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:7636000C>A	uc003srf.2	+	11	2617	c.2309C>A	c.(2308-2310)TCT>TAT	p.S770Y	MIOS_uc003srg.2_Missense_Mutation_p.S305Y|MIOS_uc010ktq.2_Missense_Mutation_p.S165Y	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	770											0						CCAACGAAATCTAAAGTCACA	0.468		NaN											1	0	1.52009e-12	0.003163	1.70779e-12	16	134				
AHR	196	broad.mit.edu	37	7	17379440	17379440	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:17379440G>T	uc011jxz.1	+	10	2604	c.1991G>T	c.(1990-1992)TGT>TTT	p.C664F	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	664					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCTTTCAATTGTCCACAGCAA	0.408		NaN											1	0	6.71967e-41	0.01441	9.18575e-41	81	78				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236509	26236509	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:26236509T>C	uc003sxr.3	-	5	645	c.429A>G	c.(427-429)ATA>ATG	p.I143M	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.I131M	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	143	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TATCAGTAATTATCTCAATGG	0.368		NaN	T	ETV1	prostate								0	0	0	0.01441	0	108	94				
HECW1	23072	broad.mit.edu	37	7	43503285	43503285	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:43503285C>G	uc003tid.1	+	14	3283	c.2678C>G	c.(2677-2679)GCA>GGA	p.A893G	HECW1_uc011kbi.1_Missense_Mutation_p.A859G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	893	Potential.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CGAACCATTGCAACAGAGAGG	0.498		NaN											0	0	0	0.01441	0	51	73				
WBSCR22	114049	broad.mit.edu	37	7	73101013	73101013	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:73101013A>G	uc003tyt.2	+	3	192	c.134A>G	c.(133-135)GAG>GGG	p.E45G	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.E45G|WBSCR22_uc003tyv.2_Missense_Mutation_p.E7G|WBSCR22_uc003tyw.1_5'UTR	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	45						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGAGCATTGGAGCTTCTTTAT	0.483		NaN											0	0	0	0.01441	0	86	113				
SEMA3D	223117	broad.mit.edu	37	7	84628764	84628764	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:84628764C>T	uc003uic.2	-	17	2366	c.2326G>A	c.(2326-2328)GCC>ACC	p.A776T	SEMA3D_uc010led.2_Missense_Mutation_p.A776T|SEMA3D_uc003uib.2_Missense_Mutation_p.A415T	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	776					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AACTACGTGGCTACAGCTCTA	0.393		NaN											0	0	0	0.021523	0	26	43				
ABCB1	5243	broad.mit.edu	37	7	87179515	87179515	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:87179515T>C	uc003uiz.1	-	13	1740	c.1322A>G	c.(1321-1323)CAG>CGG	p.Q441R	ABCB1_uc011khc.1_Missense_Mutation_p.Q377R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	441	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATAGAGCCTCTGCATCAGCTG	0.552		NaN											0	0	0	0.009535	0	31	47				
TRRAP	8295	broad.mit.edu	37	7	98487961	98487961	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:98487961G>A	uc003upp.2	+	4	363	c.154G>A	c.(154-156)GTC>ATC	p.V52I	TRRAP_uc011kis.1_Missense_Mutation_p.V52I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	52					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAATTAGAATGTCACGTCATC	0.328		NaN											0	0	0	0.016522	0	22	24				
SH2B2	10603	broad.mit.edu	37	7	101944428	101944428	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:101944428G>C	uc011kko.1	+	2	768	c.723G>C	c.(721-723)GGG>GGC	p.G241G		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	198	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						AACGCGAGGGGGCGCTGCGCT	0.746		NaN											0	0	0	0.00308	0	7	5				
RINT1	60561	broad.mit.edu	37	7	105190500	105190500	+	Splice_Site	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:105190500A>G	uc003vda.1	+	8	1228	c.997_splice	c.e8-2	p.P333_splice	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1						cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						CTCCTTCCTTAGCCAGAATGG	0.328		NaN											0	0	0	0.016522	0	23	30				
CTTNBP2	83992	broad.mit.edu	37	7	117424464	117424464	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:117424464C>T	uc003vjf.2	-	5	2205	c.2113G>A	c.(2113-2115)GCC>ACC	p.A705T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	705										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCAGGGGGGCAGGACCACCA	0.507		NaN											0	0	0	0.01441	0	79	66				
SMO	6608	broad.mit.edu	37	7	128850354	128850354	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:128850354G>A	uc003vor.2	+	9	1897	c.1617G>A	c.(1615-1617)AAG>AAA	p.K539K	SMO_uc003vos.2_Silent_p.K214K	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	539	Helical; Name=7; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TCTGGACCAAGGCCACGCTGC	0.607		NaN	Mis		skin basal cell 						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	47	71				
SLC13A4	26266	broad.mit.edu	37	7	135376027	135376027	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:135376027C>G	uc003vta.2	-	13	2054	c.1365G>C	c.(1363-1365)TGG>TGC	p.W455C	SLC13A4_uc003vtb.2_Missense_Mutation_p.W456C|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	455						integral to plasma membrane	sodium:sulfate symporter activity				0						GGAAGTCCTTCCACGTGATGA	0.498		NaN											0	0	0	0.013726	0	34	46				
MGAM	8972	broad.mit.edu	37	7	141747614	141747614	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:141747614C>A	uc003vwy.2	+	22	2582	c.2528C>A	c.(2527-2529)GCC>GAC	p.A843D		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	843	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTATCATTGCCCTAGATGAG	0.438		NaN											1	0	3.27435e-08	0.020292	3.45488e-08	10	16				
SSPO	23145	broad.mit.edu	37	7	149482090	149482090	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:149482090G>A	uc010lpk.2	+	20	2878	c.2878G>A	c.(2878-2880)GGC>AGC	p.G960S	SSPO_uc010lpl.1_Silent_p.Q295Q	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	960					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTCCACCAGGCACGGTGCT	0.627		NaN											0	0	0	0.012319	0	22	17				
ASB10	136371	broad.mit.edu	37	7	150878038	150878038	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:150878038C>G	uc003wjm.1	-	3	1353	c.1227G>C	c.(1225-1227)GGG>GGC	p.G409G	ASB10_uc003wjl.1_Silent_p.G409G|ASB10_uc003wjn.1_Silent_p.G349G	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	364					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGAGGGCCCCTGGCCAGA	0.682		NaN											0	0	0	0.003163	0	15	15				
PTPRN2	5799	broad.mit.edu	37	7	157874068	157874068	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:157874068C>A	uc003wno.2	-	11	1766	c.1645G>T	c.(1645-1647)GTT>TTT	p.V549F	PTPRN2_uc003wnp.2_Missense_Mutation_p.V532F|PTPRN2_uc003wnq.2_Missense_Mutation_p.V520F|PTPRN2_uc003wnr.2_Missense_Mutation_p.V511F|PTPRN2_uc011kwa.1_Missense_Mutation_p.V572F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	549	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGTCCGAGAACCCTGGAAGGG	0.448		NaN											1	0	1.05386e-31	0.01441	1.40262e-31	49	44				
VIPR2	7434	broad.mit.edu	37	7	158824638	158824638	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:158824638C>T	uc003woh.2	-	11	1278	c.1092G>A	c.(1090-1092)GGG>GGA	p.G364G	VIPR2_uc010lqx.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	364	Helical; Name=7; (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTGGAACGACCCGAGGCACA	0.607		NaN											0	0	0	0.01441	0	64	67				
DLGAP2	9228	broad.mit.edu	37	8	1497669	1497669	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:1497669G>C	uc003wpl.2	+	2	907	c.810G>C	c.(808-810)AAG>AAC	p.K270N	DLGAP2_uc003wpm.2_Missense_Mutation_p.K270N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	349					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGACGTCAAGTGCTCGGCCT	0.672		NaN											0	0	0	0.01441	0	65	7				
CSMD1	64478	broad.mit.edu	37	8	2944710	2944710	+	Silent	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:2944710A>T	uc011kwk.1	-	49	7776	c.7386T>A	c.(7384-7386)CCT>CCA	p.P2462P	CSMD1_uc011kwj.1_Silent_p.P1791P|CSMD1_uc010lrg.2_Silent_p.P530P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2462	Sushi 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGGTATCCAGGCTTGCAAA	0.522		NaN											0	0	0	0.01441	0	56	3				
PTK2B	2185	broad.mit.edu	37	8	27297834	27297834	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:27297834G>C	uc003xfn.1	+	26	2723	c.1915G>C	c.(1915-1917)GAG>CAG	p.E639Q	PTK2B_uc003xfo.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfp.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfq.1_Missense_Mutation_p.E639Q|PTK2B_uc003xfr.1_Missense_Mutation_p.E385Q	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	639	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CGGGGTGCTGGAGAAAGGAGA	0.607		NaN											0	0	0	0.008361	0	28	31				
CHRNA2	1135	broad.mit.edu	37	8	27327365	27327365	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:27327365G>A	uc010lur.2	-	3	816	c.207C>T	c.(205-207)GGC>GGT	p.G69G	CHRNA2_uc011lal.1_Silent_p.G69G|CHRNA2_uc010lus.2_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	69	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGCGGTTGTAGCCCCGGAAGA	0.622		NaN											0	0	0	0.01441	0	77	9				
GPR124	25960	broad.mit.edu	37	8	37698748	37698748	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:37698748G>T	uc003xkj.2	+	19	3255	c.2892G>T	c.(2890-2892)AGG>AGT	p.R964S	GPR124_uc010lvy.2_Missense_Mutation_p.R747S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	964	Cytoplasmic (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAACAGCAGGGCCTCCCTGG	0.637		NaN											1	0	2.75727e-19	0.021022	3.30515e-19	38	155				
BRF2	55290	broad.mit.edu	37	8	37702487	37702487	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:37702487G>A	uc003xkk.2	-	4	891	c.781C>T	c.(781-783)CCG>TCG	p.P261S		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	261					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GAGGACGCCGGGTAGGGCAGG	0.587		NaN											0	0	0	0.01441	0	141	30				
ADAM32	203102	broad.mit.edu	37	8	39103645	39103645	+	Missense_Mutation	SNP	C	C	T	rs142346085	by1000genomes	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:39103645C>T	uc003xmt.3	+	17	2107	c.1862C>T	c.(1861-1863)GCT>GTT	p.A621V	ADAM32_uc011lch.1_Missense_Mutation_p.A522V|ADAM32_uc003xmu.3_Missense_Mutation_p.A515V|ADAM32_uc003xmv.2_Missense_Mutation_p.A45V	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	621	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATAATTAAGGCTTCAGCACAT	0.368		NaN											0	0	0	0.013726	0	29	168				
OPRK1	4986	broad.mit.edu	37	8	54142079	54142079	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:54142079A>G	uc003xrh.1	-	3	1296	c.921T>C	c.(919-921)GCT>GCC	p.A307A	OPRK1_uc003xri.1_Silent_p.A307A|OPRK1_uc010lyc.1_Silent_p.A218A	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	307	Extracellular (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGAGAGAGCAGCTGTGCTGT	0.527		NaN											0	0	0	0.004656	0	27	28				
TGS1	96764	broad.mit.edu	37	8	56717578	56717578	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:56717578C>T	uc003xsj.3	+	10	2513	c.2126C>T	c.(2125-2127)GCC>GTC	p.A709V	TGS1_uc010lyh.2_Missense_Mutation_p.A613V	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	709	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTCAGTTTGCCTTAACAGGA	0.398		NaN											0	0	0	0.010771	0	42	56				
CYP7A1	1581	broad.mit.edu	37	8	59409268	59409268	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:59409268G>A	uc003xtm.3	-	3	866	c.803C>T	c.(802-804)TCC>TTC	p.S268F		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	268					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATCAAAGGTGGACAAAGTGTC	0.498		NaN							Neonatal_Giant_Cell_Hepatitis				0	0	0	0.01441	0	101	132				
EYA1	2138	broad.mit.edu	37	8	72211327	72211327	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:72211327G>C	uc003xys.3	-	8	1068	c.781C>G	c.(781-783)CCG>GCG	p.P261A	EYA1_uc003xyr.3_Missense_Mutation_p.P256A|EYA1_uc003xyt.3_Missense_Mutation_p.P228A|EYA1_uc010lzf.2_Missense_Mutation_p.P188A|EYA1_uc003xyu.2_Missense_Mutation_p.P261A|EYA1_uc011lfe.1_Missense_Mutation_p.P255A|EYA1_uc003xyv.2_Missense_Mutation_p.P139A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	261					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCAGATGGCGGTTCTTGAAGC	0.453		NaN											0	0	0	0.01441	0	51	78				
CPNE3	8895	broad.mit.edu	37	8	87568404	87568404	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:87568404T>G	uc003ydv.2	+	16	1491	c.1329T>G	c.(1327-1329)AAT>AAG	p.N443K	CPNE3_uc003ydw.1_Missense_Mutation_p.N159K	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	443	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						CTATAGTTAATGCCTCCAGGC	0.458		NaN											0	0	0	0.01441	0	62	63				
KCNS2	3788	broad.mit.edu	37	8	99441294	99441294	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:99441294G>T	uc003yin.2	+	2	1437	c.1087G>T	c.(1087-1089)GCC>TCC	p.A363S		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	363						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CACCATCCCTGCCTGCTGGTG	0.602		NaN											1	0	4.88482e-21	0.01441	6.01126e-21	52	51				
PKHD1L1	93035	broad.mit.edu	37	8	110489565	110489565	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:110489565G>A	uc003yne.2	+	53	9133	c.9029G>A	c.(9028-9030)TGC>TAC	p.C3010Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3010	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAGGATTGCTTTCCTGTA	0.413		NaN								HNSCC(38;0.096)			0	0	0	0.008361	0	31	25				
COL14A1	7373	broad.mit.edu	37	8	121279123	121279123	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:121279123G>A	uc003yox.2	+	25	3338	c.3073_splice	c.e25+1	p.V1025_splice	COL14A1_uc003yoy.2_Missense_Mutation_p.G703D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAAAAGAAGGTAAAAGAATA	0.353		NaN											0	0	0	0.01441	0	76	88				
SMARCA2	6595	broad.mit.edu	37	9	2115870	2115870	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:2115870G>T	uc003zhc.2	+	25	3604	c.3505G>T	c.(3505-3507)GTC>TTC	p.V1169F	SMARCA2_uc003zhd.2_Missense_Mutation_p.V1169F|SMARCA2_uc010mha.2_Missense_Mutation_p.V1102F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1169	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGAACGAGGTCCGGGTACT	0.572		NaN											1	0	6.94344e-10	0.006122	7.51191e-10	18	3		Valid		
INSL4	3641	broad.mit.edu	37	9	5233806	5233806	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:5233806C>A	uc003ziy.2	+	2	454	c.349C>A	c.(349-351)CGT>AGT	p.R117S		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	117					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GAGAAGTGGACGTCACAGATT	0.383		NaN											1	0	5.60225e-13	0.009535	6.31961e-13	29	5				
IFNA4	3441	broad.mit.edu	37	9	21187497	21187497	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:21187497G>A	uc003zon.2	-	1	102	c.34C>T	c.(34-36)CTG>TTG	p.L12L		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	12					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGAGCACCAGCACGGCCATC	0.502		NaN											0	0	0	0.01441	0	36	9				
B4GALT1	2683	broad.mit.edu	37	9	33166812	33166812	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:33166812A>T	uc003zsg.2	-	1	545	c.356T>A	c.(355-357)GTG>GAG	p.V119E		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	119	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGTGTGGGGCACTGGGACCGA	0.711		NaN											0	0	0	0.014323	0	21	33				
NOL6	65083	broad.mit.edu	37	9	33468850	33468850	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:33468850C>A	uc003zsz.2	-	8	1148	c.1047G>T	c.(1045-1047)GGG>GGT	p.G349G	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Silent_p.G349G|NOL6_uc010mjv.2_Silent_p.G349G|NOL6_uc011lob.1_Silent_p.G289G|NOL6_uc003ztb.1_Silent_p.G349G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	349					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGACAAGGAACCCAGTAAACC	0.572		NaN											1	0	1.1777e-47	0.01441	1.64227e-47	95	138				
FLJ46321	389763	broad.mit.edu	37	9	84607839	84607839	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:84607839G>T	uc004amn.2	+	4	2501	c.2454G>T	c.(2452-2454)GGG>GGT	p.G818G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	818						integral to membrane					0						ATGACTCAGGGGTGAGACTAG	0.458		NaN											1	0	1.47244e-24	0.00623	1.85729e-24	37	60				
ZCCHC6	79670	broad.mit.edu	37	9	88961372	88961372	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:88961372G>T	uc004aoq.2	-	3	759	c.544C>A	c.(544-546)CCT>ACT	p.P182T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P182T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P182T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	182					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGCTTCCTAGGTCTGGACCTC	0.428		NaN											1	0	7.50695e-29	0.01441	9.84955e-29	55	85				
KIAA1529	57653	broad.mit.edu	37	9	100124558	100124558	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:100124558C>A	uc011lut.1	+	40	5059	c.4286C>A	c.(4285-4287)TCT>TAT	p.S1429Y	KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Missense_Mutation_p.S1290Y|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GCCTGTGGGTCTCGGGGCAGC	0.587		NaN											1	0	2.33925e-33	0.01441	3.12839e-33	91	100				
GABBR2	9568	broad.mit.edu	37	9	101148053	101148053	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:101148053G>A	uc004ays.2	-	11	1687	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	511	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATCTTTATGAGCCTGACAAGA	0.378		NaN											0	0	0	0.010818	0	29	45				
ACTL7B	10880	broad.mit.edu	37	9	111618174	111618174	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:111618174C>A	uc004bdi.2	-	1	102	c.37G>T	c.(37-39)GCT>TCT	p.A13S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	13						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						TCACCCTGAGCCGTGCCCAGG	0.652		NaN											1	0	3.09899e-07	0.004482	3.24516e-07	7	94				
ACTL7A	10881	broad.mit.edu	37	9	111624682	111624682	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:111624682C>T	uc004bdj.1	+	1	80	c.80C>T	c.(79-81)GCC>GTC	p.A27V		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	27						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						CAGACACAGGCCCTCCAGACT	0.617		NaN											0	0	0	0.01441	0	50	63				
KIAA0368	23392	broad.mit.edu	37	9	114204677	114204677	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:114204677C>A	uc004bfe.1	-	6	832	c.832G>T	c.(832-834)GGC>TGC	p.G278C	KIAA0368_uc010muc.1_Missense_Mutation_p.G100C	NM_001080398	NP_001073867			KIAA0368 protein												0						CGAGGATAGCCCATTTTAACA	0.378		NaN											1	0	0.00198382	0.001984	0.00200185	7	14				
RNF183	138065	broad.mit.edu	37	9	116060181	116060181	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:116060181C>A	uc004bgz.2	-	2	402	c.284G>T	c.(283-285)GGC>GTC	p.G95V	RNF183_uc004bha.2_Missense_Mutation_p.G95V	NM_145051	NP_659488	Q96D59	RN183_HUMAN	ring finger protein 183	95						integral to membrane	zinc ion binding				0						CAGCTGATGGCCTTCCAGGAT	0.657		NaN											1	0	3.19069e-20	0.01441	3.8749e-20	52	40				
PTGES2	80142	broad.mit.edu	37	9	130886051	130886051	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:130886051C>T	uc004bti.2	-	4	1094	c.616G>A	c.(616-618)GGC>AGC	p.G206S	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G15S|PTGES2_uc004btl.2_Missense_Mutation_p.G15S|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	206	Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						TACTTATTGCCGAACTCGGTC	0.592		NaN											0	0	0	0.01441	0	45	50				
ZER1	10444	broad.mit.edu	37	9	131516169	131516169	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:131516169G>C	uc004bwa.1	-	3	661	c.228C>G	c.(226-228)GAC>GAG	p.D76E		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	76					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGCTGCGGGGGTCCGAAAAGA	0.627		NaN											0	0	0	0.014758	0	5	10				
GTF3C4	9329	broad.mit.edu	37	9	135553561	135553561	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:135553561G>C	uc010mzv.2	+	2	813	c.555G>C	c.(553-555)CTG>CTC	p.L185L	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	185					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGGCAGCACTGACCATGGACA	0.527		NaN											0	0	0	0.01441	0	56	51				
ADAMTS13	11093	broad.mit.edu	37	9	136323081	136323081	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:136323081G>A	uc004cdv.3	+	28	4386	c.3942G>A	c.(3940-3942)TCG>TCA	p.S1314S	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.S1258S|ADAMTS13_uc004cdu.1_Silent_p.S1227S|ADAMTS13_uc004cdw.3_Silent_p.S1258S|ADAMTS13_uc004cdx.3_Silent_p.S1227S|ADAMTS13_uc004cdz.3_Silent_p.S984S|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Silent_p.S110S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1314	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGAGCCCCTCGCTGAGTCCAG	0.607		NaN											0	0	0	0.01441	0	61	54				
COL5A1	1289	broad.mit.edu	37	9	137701072	137701072	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:137701072A>T	uc004cfe.2	+	43	3792	c.3410A>T	c.(3409-3411)CAG>CTG	p.Q1137L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1137	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACGGTCTCCAGGGGCCTGTG	0.627		NaN											0	0	0	0.016723	0	14	11				
CAMSAP1	157922	broad.mit.edu	37	9	138719397	138719397	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:138719397G>C	uc004cgr.3	-	8	1079	c.1079C>G	c.(1078-1080)CCT>CGT	p.P360R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P250R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P82R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	360						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGGTACAGGAGGCCGGCTGCT	0.562		NaN											0	0	0	0.008871	0	19	32				
NOTCH1	4851	broad.mit.edu	37	9	139418227	139418227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:139418227G>A	uc004chz.2	-	3	345	c.345C>T	c.(343-345)GGC>GGT	p.G115G		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	115	Extracellular (Potential).|EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCGCAGGTGCCCCCGTTGC	0.687		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.014323	0	19	15				
MAMDC4	158056	broad.mit.edu	37	9	139751262	139751262	+	Missense_Mutation	SNP	C	C	A	rs142680518		TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:139751262C>A	uc004cjs.2	+	15	1871	c.1821C>A	c.(1819-1821)GAC>GAA	p.D607E	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	686	MAM 4.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGACCACGACCACACCACAG	0.647		NaN											1	0	4.36969e-10	0.016723	4.74595e-10	12	16				
ENTPD8	377841	broad.mit.edu	37	9	140330634	140330634	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr9:140330634T>G	uc004cmw.2	-	7	1065	c.881A>C	c.(880-882)CAC>CCC	p.H294P	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.H294P	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	294	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGCGTGGCGTGGACACAGGG	0.657		NaN											0	0	0	0.015359	0	35	49				
TLR8	51311	broad.mit.edu	37	X	12939700	12939700	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:12939700G>C	uc004cve.2	+	2	2609	c.2541G>C	c.(2539-2541)CTG>CTC	p.L847L	TLR8_uc004cvd.2_Silent_p.L865L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	847	Helical; (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TGGCTGCCCTGGCTCACCATT	0.393		NaN											0	0	0	0.01441	0	67	9				
CDKL5	6792	broad.mit.edu	37	X	18622501	18622501	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:18622501C>A	uc004cym.2	+	12	1710	c.1457C>A	c.(1456-1458)GCC>GAC	p.A486D	CDKL5_uc004cyn.2_Missense_Mutation_p.A486D	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	486					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					AGGACCAAGGCCAAAAGCCAT	0.532		NaN											1	0	3.8688e-20	0.01441	4.68818e-20	65	11				
CDKL5	6792	broad.mit.edu	37	X	18622521	18622521	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:18622521A>G	uc004cym.2	+	12	1730	c.1477A>G	c.(1477-1479)AGT>GGT	p.S493G	CDKL5_uc004cyn.2_Missense_Mutation_p.S493G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	493					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TGGGGCACTGAGTGACTCCAA	0.517		NaN											0	0	0	0.01441	0	60	11				
MAGEB18	286514	broad.mit.edu	37	X	26157994	26157994	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:26157994G>T	uc004dbq.1	+	2	1079	c.892G>T	c.(892-894)GCC>TCC	p.A298S		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	298	MAGE.						protein binding			central_nervous_system(1)	1						CGTCCCTAGTGCCTTCCCATC	0.522		NaN											1	0	5.16669e-11	0.010729	5.67824e-11	12	1				
ZXDA	7789	broad.mit.edu	37	X	57936038	57936038	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:57936038G>A	uc004dve.2	-	1	1030	c.817C>T	c.(817-819)CTG>TTG	p.L273L		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	273	C2H2-type 1.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TGCCCGCACAGCGCCTCGGGG	0.711		NaN											0	0	0	0.006214	0	7	2				
OTUD6A	139562	broad.mit.edu	37	X	69282757	69282757	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:69282757A>T	uc004dxu.1	+	1	417	c.383A>T	c.(382-384)GAG>GTG	p.E128V		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	128										lung(1)|skin(1)	2						AAGCGCGAGGAGGAGGAGAAG	0.627		NaN											0	0	0	0.001168	0	6	1				
ATP7A	538	broad.mit.edu	37	X	77271359	77271359	+	Silent	SNP	A	A	G	rs61053012	byFrequency	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:77271359A>G	uc004ecx.3	+	12	2767	c.2607A>G	c.(2605-2607)GTA>GTG	p.V869V		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	869	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						ATTCTATGGTAGATGAGTCCC	0.378		NaN											0	0	0	0.01441	0	60	1				
PLXNB3	5365	broad.mit.edu	37	X	153037013	153037013	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:153037013G>A	uc004fii.2	+	14	2594	c.2420G>A	c.(2419-2421)TGC>TAC	p.C807Y	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Missense_Mutation_p.C489Y|PLXNB3_uc010nuk.2_Missense_Mutation_p.C830Y|PLXNB3_uc011mzd.1_Missense_Mutation_p.C446Y|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	807	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTGGGCTGCCTGTGGTGT	0.672		NaN											0	0	0	0.008361	0	29	0				
ACAP3	116983	broad.mit.edu	37	1	1233212	1233212	+	Missense_Mutation	SNP	C	C	G	rs146361230		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1233212C>G	uc001aeb.2	-	14	1192	c.1118G>C	c.(1117-1119)TGC>TCC	p.C373S	ACAP3_uc001ady.2_Missense_Mutation_p.C103S|ACAP3_uc001aea.2_Missense_Mutation_p.C331S	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	373					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CTCGCTATAGCAACTGTCAGG	0.682		NaN											0	0	0	0.013726	0	34	18				
SSU72	29101	broad.mit.edu	37	1	1479272	1479272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1479272G>A	uc001agd.2	-	4	785	c.460C>T	c.(460-462)CTC>TTC	p.L154F	SSU72_uc009vkg.1_Missense_Mutation_p.L154F	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	154					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCACAGATGAGAAACGCCCCC	0.517		NaN											0	0	0	0.003755	0	36	101				
MMEL1	79258	broad.mit.edu	37	1	2529730	2529730	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2529730C>T	uc001ajy.2	-	13	1402	c.1188G>A	c.(1186-1188)CAG>CAA	p.Q396Q	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	396	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCAGGTAGTTCTGTATGGTCC	0.582		NaN											0	0	0	0.008871	0	20	56				
MMEL1	79258	broad.mit.edu	37	1	2530149	2530149	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2530149G>C	uc001ajy.2	-	12	1336	c.1122C>G	c.(1120-1122)GTC>GTG	p.V374V	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	374	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATGCCATAGACCACCACTT	0.517		NaN											0	0	0	0.012319	0	21	72				
PINK1	65018	broad.mit.edu	37	1	20972086	20972086	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:20972086G>A	uc001bdm.2	+	5	1087	c.993G>A	c.(991-993)GTG>GTA	p.V331V	PINK1_uc001bdn.2_Silent_p.V24V	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	331	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTTTGTGTGAACACACCCA	0.577		NaN											0	0	0	0.003954	0	24	54				
ARID1A	8289	broad.mit.edu	37	1	27106421	27106421	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27106421T>G	uc001bmv.1	+	20	6405	c.6032T>G	c.(6031-6033)CTG>CGG	p.L2011R	ARID1A_uc001bmu.1_Missense_Mutation_p.L1794R|ARID1A_uc001bmx.1_Missense_Mutation_p.L857R|ARID1A_uc009vsm.1_Missense_Mutation_p.L339R|ARID1A_uc009vsn.1_Missense_Mutation_p.L253R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGCTCATCCTGGGCAAGCTG	0.547		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.003755	0	35	77		Valid		
MAP3K6	9064	broad.mit.edu	37	1	27683085	27683085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27683085C>G	uc001bny.1	-	25	3769	c.3520G>C	c.(3520-3522)GAT>CAT	p.D1174H	MAP3K6_uc009vsw.1_Missense_Mutation_p.D1166H	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1174	Potential.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTACCGATCAGTCTCTGCC	0.647		NaN											0	0	0	0.004482	0	9	53				
KIAA1522	57648	broad.mit.edu	37	1	33236326	33236326	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:33236326G>C	uc001bvv.2	+	6	1505	c.1369G>C	c.(1369-1371)GAT>CAT	p.D457H	KIAA1522_uc001bvu.1_Missense_Mutation_p.D516H|KIAA1522_uc010ohm.1_Missense_Mutation_p.D468H|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	457	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCAGTGCCTGATGGGCCATT	0.682		NaN											0	0	0	0.010729	0	12	27				
STIL	6491	broad.mit.edu	37	1	47753284	47753284	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:47753284C>T	uc001crc.1	-	10	1227	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E311K|STIL_uc010omo.1_Missense_Mutation_p.E358K|STIL_uc001crd.1_Missense_Mutation_p.E358K|STIL_uc001cre.1_Missense_Mutation_p.E358K|STIL_uc001crg.1_Missense_Mutation_p.E311K	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	358					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTTTGGCTTTCAGCGCTCAGT	0.333		NaN											0	0	0	0.00632	0	25	26				
MAGOH	4116	broad.mit.edu	37	1	53699227	53699227	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:53699227C>T	uc001cvf.1	-	3	333	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	MAGOH_uc010ont.1_Intron	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	82					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding				0						CCGGCCCACTCGGTCAGGAGG	0.453		NaN											0	0	0	0.01441	0	88	85				
PTPN22	26191	broad.mit.edu	37	1	114380326	114380326	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:114380326G>A	uc001eds.2	-	13	1826	c.1696C>T	c.(1696-1698)CTG>TTG	p.L566L	PTPN22_uc009wgq.2_Silent_p.L511L|PTPN22_uc010owo.1_Silent_p.L322L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.L566L|PTPN22_uc009wgs.2_Silent_p.L439L|PTPN22_uc001edu.2_Silent_p.L566L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	566					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAACAGAGAAGAAGGA	0.383		NaN											0	0	0	0.01441	0	77	45				
HSD3B1	3283	broad.mit.edu	37	1	120056930	120056930	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:120056930C>T	uc001ehv.1	+	4	929	c.784C>T	c.(784-786)CAC>TAC	p.H262Y	HSD3B1_uc001ehw.2_Missense_Mutation_p.H264Y	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	262					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGACACGCCTCACCAAAGCTA	0.522		NaN											0	0	0	0.01441	0	136	64				
TARS2	80222	broad.mit.edu	37	1	150479406	150479406	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479406G>A	uc001euq.2	+	18	2030	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	TARS2_uc001eur.2_Missense_Mutation_p.E593K|TARS2_uc009wlt.2_Missense_Mutation_p.E301K|TARS2_uc009wls.2_Missense_Mutation_p.E545K|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	675					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCAGAAAGAGCAAAGTAA	0.507		NaN											0	0	0	0.010818	0	29	188				
TARS2	80222	broad.mit.edu	37	1	150479442	150479442	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479442G>A	uc001euq.2	+	18	2066	c.2059G>A	c.(2059-2061)GAT>AAT	p.D687N	TARS2_uc001eur.2_Missense_Mutation_p.D605N|TARS2_uc009wlt.2_Missense_Mutation_p.D313N|TARS2_uc009wls.2_Missense_Mutation_p.D557N|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	687					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGGACTCGAGATAATCGTCG	0.522		NaN											0	0	0	0.012213	0	35	186				
CKS1B	1163	broad.mit.edu	37	1	154951211	154951211	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154951211C>T	uc001fgb.2	+	3	302	c.198C>T	c.(196-198)ATC>ATT	p.I66I	CKS1B_uc001fga.2_RNA	NM_001826	NP_001817	P61024	CKS1_HUMAN	CDC28 protein kinase 1B	66					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACCTCACATCTTGCTGTTCC	0.458		NaN											0	0	0	0.01441	0	48	3				
DCST2	127579	broad.mit.edu	37	1	154995910	154995910	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154995910G>A	uc001fgm.2	-	13	1974	c.1894C>T	c.(1894-1896)CGC>TGC	p.R632C	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	632	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGGAGGCGGAAGCAAGTG	0.612		NaN											0	0	0	0.006214	0	8	25				
DCST2	127579	broad.mit.edu	37	1	154998788	154998788	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154998788G>A	uc001fgm.2	-	10	1681	c.1601C>T	c.(1600-1602)TCC>TTC	p.S534F	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	534	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCTCCCGGGATGGGTAGTA	0.617		NaN											0	0	0	0.009535	0	26	120				
CD5L	922	broad.mit.edu	37	1	157803224	157803224	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:157803224C>G	uc001frk.3	-	5	940	c.797G>C	c.(796-798)GGC>GCC	p.G266A		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	266	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACAGACAGAGCCCCATACGCC	0.567		NaN											0	0	0	0.01441	0	47	129				
ATP1A2	477	broad.mit.edu	37	1	160094202	160094202	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:160094202C>G	uc001fvc.2	+	6	744	c.612C>G	c.(610-612)ATC>ATG	p.I204M	ATP1A2_uc001fvb.2_Missense_Mutation_p.I204M|ATP1A2_uc010piz.1_Missense_Mutation_p.I49M	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	204	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCGGATCATCTCTTCTCATG	0.567		NaN											0	0	0	0.004482	0	9	38				
XPR1	9213	broad.mit.edu	37	1	180804041	180804041	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:180804041T>G	uc001goi.2	+	10	1358	c.1166T>G	c.(1165-1167)GTA>GGA	p.V389G	XPR1_uc009wxm.2_Missense_Mutation_p.V389G|XPR1_uc009wxn.2_Missense_Mutation_p.V389G	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	389	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TTCCATAAGGTAGGCTTTGCT	0.403		NaN											0	0	0	0.00499	0	17	98				
PRG4	10216	broad.mit.edu	37	1	186270750	186270750	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270750G>A	uc001gru.3	+	4	277	c.226G>A	c.(226-228)GAG>AAG	p.E76K	PRG4_uc001grt.3_Missense_Mutation_p.E35K|PRG4_uc009wyl.2_Missense_Mutation_p.E76K|PRG4_uc009wym.2_Missense_Mutation_p.E35K|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	76	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCGCTGCTTTGAGTCCTTCGA	0.448		NaN											0	0	0	0.01441	0	114	0				
PRG4	10216	broad.mit.edu	37	1	186270756	186270756	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270756T>A	uc001gru.3	+	4	283	c.232T>A	c.(232-234)TTC>ATC	p.F78I	PRG4_uc001grt.3_Missense_Mutation_p.F37I|PRG4_uc009wyl.2_Missense_Mutation_p.F78I|PRG4_uc009wym.2_Missense_Mutation_p.F37I|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	78	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTTTGAGTCCTTCGAGAGAGG	0.463		NaN											0	0	0	0.01441	0	115	0				
KCNT2	343450	broad.mit.edu	37	1	196250089	196250089	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:196250089G>A	uc001gtd.1	-	25	2871	c.2811C>T	c.(2809-2811)ATC>ATT	p.I937I	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I863I|KCNT2_uc001gtf.1_Silent_p.I913I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I913I|KCNT2_uc001gth.1_Silent_p.I434I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	937	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CATAAGTTCTGATCCATAAGT	0.343		NaN											0	0	0	0.01441	0	91	2				
ELF3	1999	broad.mit.edu	37	1	201984345	201984345	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:201984345A>G	uc001gxg.3	+	8	4202	c.1010A>G	c.(1009-1011)TAC>TGC	p.Y337C	ELF3_uc001gxi.3_Missense_Mutation_p.Y337C|ELF3_uc001gxh.3_Missense_Mutation_p.Y337C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	337	ETS.			RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter.	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						AGGTACTACTACAAACGGGAG	0.597		NaN											0	0	0	0.01441	0	100	2		Valid		
AVPR1B	553	broad.mit.edu	37	1	206225298	206225298	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:206225298C>T	uc001hds.2	+	1	1016	c.858C>T	c.(856-858)ATC>ATT	p.I286I		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	286	Helical; Name=6; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTTGTCATCGTGCTGGCCT	0.572		NaN											0	0	0	0.01441	0	72	54				
PCNXL2	80003	broad.mit.edu	37	1	233134081	233134081	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:233134081C>G	uc001hvl.2	-	32	5942	c.5707G>C	c.(5707-5709)GGC>CGC	p.G1903R	PCNXL2_uc001hvk.1_Missense_Mutation_p.G555R|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1903						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTGGCTGCCACCACTCGGG	0.637		NaN											0	0	0	0.00333	0	21	45				
OR2T4	127074	broad.mit.edu	37	1	248525926	248525926	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:248525926G>A	uc001ieh.1	+	1	1044	c.1044G>A	c.(1042-1044)GAG>GAA	p.E348E		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	348	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGCTATGGAGTAGACCATTT	0.403		NaN											0	0	0	0.01441	0	158	6				
ITGA8	8516	broad.mit.edu	37	10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:15701026G>A	uc001ioc.1	-	10	920	c.920C>T	c.(919-921)ACG>ATG	p.T307M	ITGA8_uc010qcb.1_Missense_Mutation_p.T292M	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	307	Extracellular (Potential).|FG-GAP 4.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						CTGAATAAACGTCATATCCGT	0.318		NaN											0	0	0	0.001855	0	12	31				
WAC	51322	broad.mit.edu	37	10	28884845	28884845	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28884845C>G	uc001iuf.2	+	7	879	c.794C>G	c.(793-795)TCT>TGT	p.S265C	WAC_uc001iud.2_Missense_Mutation_p.S220C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S220C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S220C	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	265					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						ACTGTTCCTTCTAGTCCATTT	0.463		NaN											0	0	0	0.01441	0	49	127				
WAC	51322	broad.mit.edu	37	10	28906604	28906604	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906604G>C	uc001iuf.2	+	13	1850	c.1765G>C	c.(1765-1767)GAA>CAA	p.E589Q	WAC_uc001iud.2_Missense_Mutation_p.E544Q|WAC_uc001iue.2_Missense_Mutation_p.E279Q|WAC_uc001iug.2_Missense_Mutation_p.E486Q|WAC_uc001iuh.2_Missense_Mutation_p.E540Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	589					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						ATTACGCGAAGAAGCGCATAA	0.289		NaN											0	0	0	0.001855	0	14	29				
WAC	51322	broad.mit.edu	37	10	28906611	28906611	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906611A>G	uc001iuf.2	+	13	1857	c.1772A>G	c.(1771-1773)CAT>CGT	p.H591R	WAC_uc001iud.2_Missense_Mutation_p.H546R|WAC_uc001iue.2_Missense_Mutation_p.H281R|WAC_uc001iug.2_Missense_Mutation_p.H488R|WAC_uc001iuh.2_Missense_Mutation_p.H542R	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	591					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						GAAGAAGCGCATAACATGGGA	0.299		NaN											0	0	0	0.006122	0	17	29				
A1CF	29974	broad.mit.edu	37	10	52601629	52601629	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:52601629C>T	uc001jjj.2	-	5	546	c.358G>A	c.(358-360)GAA>AAA	p.E120K	A1CF_uc010qhn.1_Missense_Mutation_p.E128K|A1CF_uc001jji.2_Missense_Mutation_p.E120K|A1CF_uc001jjh.2_Missense_Mutation_p.E128K|A1CF_uc010qho.1_Missense_Mutation_p.E128K|A1CF_uc009xov.2_Missense_Mutation_p.E120K|A1CF_uc001jjk.1_Missense_Mutation_p.E120K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	120	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						TACCTAATTTCATAATTATTA	0.318		NaN											0	0	0	0.004007	0	13	36				
ANK3	288	broad.mit.edu	37	10	61830970	61830970	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61830970C>T	uc001jky.2	-	37	9861	c.9669G>A	c.(9667-9669)GTG>GTA	p.V3223V	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3223					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTGTTTCCTCCACTGTAGTCT	0.473		NaN											0	0	0	0.001168	0	6	202				
ANK3	288	broad.mit.edu	37	10	61836204	61836204	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61836204C>T	uc001jky.2	-	37	4627	c.4435G>A	c.(4435-4437)GAA>AAA	p.E1479K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1479					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTACTCCGTTCAACTGTTTCT	0.378		NaN											0	0	0	0.007291	0	30	10				
JMJD1C	221037	broad.mit.edu	37	10	64960429	64960429	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:64960429G>A	uc001jmn.2	-	11	5383	c.5083C>T	c.(5083-5085)CCT>TCT	p.P1695S	JMJD1C_uc001jml.2_Missense_Mutation_p.P1476S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P1407S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1513S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1513S|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1695					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGAGGAATGCCAGCT	0.373		NaN											0	0	0	0.00308	0	8	29				
PPRC1	23082	broad.mit.edu	37	10	103906993	103906993	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:103906993C>T	uc001kum.2	+	9	4283	c.4244C>T	c.(4243-4245)TCA>TTA	p.S1415L	PPRC1_uc001kun.2_Missense_Mutation_p.S1295L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1415	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAGCCCCTCAAGCCAGGGC	0.612		NaN											0	0	0	0.01441	0	68	35				
PDCD11	22984	broad.mit.edu	37	10	105202183	105202183	+	Missense_Mutation	SNP	G	G	A	rs140495953		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:105202183G>A	uc001kwy.1	+	32	5008	c.4921G>A	c.(4921-4923)GTG>ATG	p.V1641M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1641					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCCCGTGCCGTGGCTGAGAG	0.587		NaN											0	0	0	0.01441	0	80	43				
ACADSB	36	broad.mit.edu	37	10	124813245	124813245	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:124813245G>A	uc001lhb.2	+	11	1380	c.1263G>A	c.(1261-1263)TTG>TTA	p.L421L	ACADSB_uc010qub.1_Silent_p.L319L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATCCAGTTGAACACCATTG	0.398		NaN											0	0	0	0.005443	0	23	93				
CHST15	51363	broad.mit.edu	37	10	125801927	125801927	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:125801927T>G	uc001lhl.2	-	3	1436	c.923A>C	c.(922-924)TAT>TCT	p.Y308S	CHST15_uc001lhm.2_Missense_Mutation_p.Y308S|CHST15_uc001lhn.2_Missense_Mutation_p.Y308S|CHST15_uc010que.1_Missense_Mutation_p.Y308S|CHST15_uc001lho.2_Missense_Mutation_p.Y308S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	308	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TTCCACGGGATAGCGGTCTCG	0.537		NaN											0	0	0	0.005524	0	41	32				
FANK1	92565	broad.mit.edu	37	10	127697960	127697960	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:127697960G>C	uc001ljh.3	+	11	1095	c.991G>C	c.(991-993)GAA>CAA	p.E331Q	FANK1_uc009yan.2_Missense_Mutation_p.E357Q|FANK1_uc001lji.2_3'UTR	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	331						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CTCCTTATTAGAAGAAAGGAA	0.413		NaN											0	0	0	0.006122	0	19	51				
IGF2	3481	broad.mit.edu	37	11	2154863	2154863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:2154863G>A	uc009yde.2	-	3	293	c.190C>T	c.(190-192)CGT>TGT	p.R64C	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64C|IGF2_uc009ydf.2_Missense_Mutation_p.R120C|IGF2_uc001lvh.2_Missense_Mutation_p.R64C|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	64	C.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGATGCCACGGCTGCGACGG	0.662		NaN											0	0	0	0.010729	0	11	35				
DNHD1	144132	broad.mit.edu	37	11	6590023	6590023	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:6590023C>G	uc001mdw.3	+	39	13354	c.12790C>G	c.(12790-12792)CTG>GTG	p.L4264V	DNHD1_uc001mea.3_Missense_Mutation_p.L533V|DNHD1_uc001meb.2_Missense_Mutation_p.L532V|DNHD1_uc001mec.2_Missense_Mutation_p.L532V|DNHD1_uc010rao.1_Missense_Mutation_p.L522V|DNHD1_uc009yfg.2_5'UTR	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4264					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACTACCTCTGCTCCTCCT	0.602		NaN											0	0	0	0.00499	0	17	14				
RBMXL2	27288	broad.mit.edu	37	11	7111126	7111126	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:7111126G>A	uc001mfc.2	+	1	962	c.775G>A	c.(775-777)GAC>AAC	p.D259N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	259	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTACAGCGACCGAGACGG	0.662		NaN											0	0	0	0.014323	0	19	46				
PIK3C2A	5286	broad.mit.edu	37	11	17113138	17113138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:17113138G>A	uc001mmq.3	-	30	4774	c.4708C>T	c.(4708-4710)CGA>TGA	p.R1570*	PIK3C2A_uc009ygu.1_Nonsense_Mutation_p.R173*|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R1190*|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1570	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GTACCATTTCGGTAAGAGATG	0.388		NaN											0	0	0	0.009718	0	42	33				
TCP11L1	55346	broad.mit.edu	37	11	33078731	33078731	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33078731G>T	uc001mud.2	+	4	767	c.367G>T	c.(367-369)GAT>TAT	p.D123Y	TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Missense_Mutation_p.D123Y|TCP11L1_uc001mue.2_Missense_Mutation_p.D123Y|TCP11L1_uc001muf.1_5'Flank	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	123											0						GCTAAGTGAAGATCCCCCAGC	0.433		NaN											1	0	3.94896e-32	0.01441	4.44853e-32	70	181				
HIPK3	10114	broad.mit.edu	37	11	33369461	33369461	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33369461G>A	uc001mul.1	+	11	2478	c.2208G>A	c.(2206-2208)CAG>CAA	p.Q736Q	HIPK3_uc001mum.1_Silent_p.Q736Q|HIPK3_uc009yjv.1_Silent_p.Q736Q	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	736					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TGACCAATCAGATAACTTTAT	0.438		NaN											0	0	0	0.004878	0	39	90				
MTCH2	23788	broad.mit.edu	37	11	47653256	47653256	+	Missense_Mutation	SNP	C	C	G	rs144753500	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:47653256C>G	uc010rho.1	-	6	566	c.377G>C	c.(376-378)CGA>CCA	p.R126P	MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	126	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						GATCATCTCTCGAGTTGTCTA	0.423		NaN											0	0	0	0.010504	0	22	71				
ARAP1	116985	broad.mit.edu	37	11	72423574	72423574	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:72423574C>A	uc001osu.2	-	6	976	c.787G>T	c.(787-789)GTG>TTG	p.V263L	ARAP1_uc001osv.2_Missense_Mutation_p.V263L|ARAP1_uc001osr.2_Missense_Mutation_p.V23L|ARAP1_uc001oss.2_Missense_Mutation_p.V18L|ARAP1_uc009yth.2_Missense_Mutation_p.V18L|ARAP1_uc010rre.1_Missense_Mutation_p.V18L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	263					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						AGACTGGCCACGCGCACGGCC	0.657		NaN											1	0	3.73298e-82	0.01441	4.3766e-82	138	80				
XRRA1	143570	broad.mit.edu	37	11	74641373	74641373	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:74641373G>C	uc009yub.2	-	6	704	c.372C>G	c.(370-372)ATC>ATG	p.I124M	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_Translation_Start_Site|XRRA1_uc001ovq.3_Missense_Mutation_p.I124M|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	124	LRR 1.				response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						CTGAGGCATTGATATAAATCA	0.393		NaN											0	0	0	0.004672	0	2	5				
MOGAT2	80168	broad.mit.edu	37	11	75439964	75439964	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:75439964C>G	uc010rru.1	+	5	780	c.780C>G	c.(778-780)CTC>CTG	p.L260L	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.L178L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	260					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					CCCTCCCACTCTTTCATGGCC	0.537		NaN											0	0	0	0.01441	0	82	46				
NOX4	50507	broad.mit.edu	37	11	89184974	89184974	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:89184974A>G	uc001pct.2	-	3	482	c.243T>C	c.(241-243)GCT>GCC	p.A81A	NOX4_uc009yvr.2_Silent_p.A56A|NOX4_uc001pcu.2_Silent_p.A7A|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.A81A|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.A81A|NOX4_uc010rtv.1_Silent_p.A57A|NOX4_uc009yvq.2_Silent_p.A57A|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	81	Ferric oxidoreductase.|Helical; (Potential).				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCGGAGGTAAGCCAAGAGTG	0.408		NaN											0	0	0	0.013537	0	13	90				
CASP1	834	broad.mit.edu	37	11	104897665	104897665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:104897665C>T	uc010rve.1	-	8	1037	c.1020G>A	c.(1018-1020)TGG>TGA	p.W340*	CASP1_uc001pig.2_Nonsense_Mutation_p.W247*|CASP1_uc001pik.2_Nonsense_Mutation_p.W303*|CASP1_uc010rvf.1_Nonsense_Mutation_p.W247*|CASP1_uc010rvg.1_Nonsense_Mutation_p.W319*|CASP1_uc010rvh.1_Nonsense_Mutation_p.W199*|CASP1_uc010rvi.1_Nonsense_Mutation_p.W24*|CASP1_uc001pim.3_Nonsense_Mutation_p.W340*|CASP1_uc009yxi.2_Nonsense_Mutation_p.W319*|CASP1_uc010rvj.1_Nonsense_Mutation_p.W340*|CASP1_uc009yxj.2_Nonsense_Mutation_p.W185*|CASP1_uc010rvk.1_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	340					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGGGATGTCTCCAAGAAACAT	0.403		NaN											0	0	0	0.013114	0	46	29				
BCO2	83875	broad.mit.edu	37	11	112050172	112050172	+	Missense_Mutation	SNP	T	T	C	rs112483486	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:112050172T>C	uc001pnf.2	+	2	377	c.260T>C	c.(259-261)ATT>ACT	p.I87T	BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.I87T|BCO2_uc001pnh.2_Missense_Mutation_p.I53T|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.I53T|BCO2_uc001pni.2_Missense_Mutation_p.I53T	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	87					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTACTTCGAATTGGACCTGGG	0.493		NaN											0	0	0	0.009096	0	4	97				
SPA17	53340	broad.mit.edu	37	11	124561605	124561605	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:124561605C>A	uc001qap.2	+	4	375	c.239C>A	c.(238-240)CCT>CAT	p.P80H		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	80					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CAAGAACCACCTGAGAAAAGT	0.378		NaN											1	0	9.52127e-25	0.01441	1.06297e-24	49	32				
SRPR	6734	broad.mit.edu	37	11	126135303	126135303	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:126135303C>G	uc001qdh.2	-	10	1222	c.1171G>C	c.(1171-1173)GAG>CAG	p.E391Q	SRPR_uc010sbm.1_Missense_Mutation_p.E363Q	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	391					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGGGACTCCTGTAGGGCT	0.557		NaN											0	0	0	0.01441	0	49	31				
PDE3A	5139	broad.mit.edu	37	12	20786637	20786637	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:20786637C>A	uc001reh.1	+	7	1793	c.1771C>A	c.(1771-1773)CCA>ACA	p.P591T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	591					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGTGGCAGACCATATTCCCA	0.418		NaN											1	0	2.48551e-13	0.00499	2.66355e-13	18	27				
C12orf11	55726	broad.mit.edu	37	12	27068949	27068949	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:27068949C>T	uc001rhk.3	-	11	1771	c.1234G>A	c.(1234-1236)GAC>AAC	p.D412N	C12orf11_uc001rhj.3_Missense_Mutation_p.D37N|C12orf11_uc010sjk.1_Missense_Mutation_p.D311N	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	412					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					ATCCGGTAGTCTGTAACTCTT	0.299		NaN											0	0	0	0.012213	0	32	29				
PTHLH	5744	broad.mit.edu	37	12	28116576	28116576	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:28116576C>G	uc001rik.2	-	3	532	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	PTHLH_uc001ril.2_Missense_Mutation_p.E77Q|PTHLH_uc001rim.2_Missense_Mutation_p.E77Q|PTHLH_uc001rin.2_Missense_Mutation_p.E77Q	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	77					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)					GGGGACACCTCCGAGGTAGCT	0.507		NaN											0	0	0	0.004289	0	34	299				
DENND5B	160518	broad.mit.edu	37	12	31568364	31568364	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:31568364C>T	uc001rki.1	-	12	2675	c.2489G>A	c.(2488-2490)AGA>AAA	p.R830K	DENND5B_uc001rkh.1_Missense_Mutation_p.R865K|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	830	RUN 1.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AGATTTTCTTCTTTCTGGTCC	0.333		NaN											0	0	0	0.000602	0	4	23				
C12orf35	55196	broad.mit.edu	37	12	32140179	32140179	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:32140179G>C	uc001rks.2	+	5	5423	c.5009G>C	c.(5008-5010)GGA>GCA	p.G1670A	C12orf35_uc001rkt.2_RNA	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1670										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATAGTTTCAGGAATAAAAAGT	0.289		NaN											0	0	0	0.006214	0	10	35				
PDZRN4	29951	broad.mit.edu	37	12	41966494	41966494	+	Missense_Mutation	SNP	G	G	A	rs138042494	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:41966494G>A	uc010skn.1	+	10	1384	c.1316G>A	c.(1315-1317)CGA>CAA	p.R439Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.R380Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R378Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R265Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	638							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGCAAGATTCGAAATCATGGA	0.453		NaN											0	0	0	0.01441	0	64	32				
TUBA1C	84790	broad.mit.edu	37	12	49666750	49666750	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49666750C>A	uc001rtt.1	+	4	1190	c.1090C>A	c.(1090-1092)CCT>ACT	p.P364T	TUBA1C_uc001rts.2_Missense_Mutation_p.P329T|TUBA1C_uc010smh.1_Missense_Mutation_p.P434T|uc010smi.1_5'UTR	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	tubulin alpha 6	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0						CACTGTGGTGCCTGGCGGAGA	0.562		NaN											1	0	1.15062e-32	0.01441	1.30009e-32	74	48				
PRPH	5630	broad.mit.edu	37	12	49691240	49691240	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49691240G>C	uc001rtu.2	+	6	1172	c.1097G>C	c.(1096-1098)CGA>CCA	p.R366P		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	366	Coil 2.|Rod.						structural molecule activity				0						GAGGAGCTGCGACAGCTAAAA	0.652		NaN									OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	10	16				
AQP2	359	broad.mit.edu	37	12	50344837	50344837	+	Missense_Mutation	SNP	G	G	T	rs144443773		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:50344837G>T	uc001rvn.2	+	1	314	c.224G>T	c.(223-225)TGC>TTC	p.C75F		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	75	Cytoplasmic (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						ACTGTGGCCTGCCTGGTGGGC	0.647		NaN											1	0	3.07112e-06	0.010729	3.18171e-06	11	40				
KRT83	3889	broad.mit.edu	37	12	52713085	52713085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52713085C>G	uc001saf.2	-	2	511	c.448G>C	c.(448-450)GAG>CAG	p.E150Q		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	150	Rod.|Linker 1.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGCACTCGCGGTTTTGG	0.607		NaN											0	0	0	0.01441	0	111	62				
KRT85	3891	broad.mit.edu	37	12	52758102	52758102	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52758102G>A	uc001sag.2	-	3	798	c.678C>T	c.(676-678)GTC>GTT	p.V226V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	226	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTAGAACGACAAACTCAT	0.572		NaN											0	0	0	0.01441	0	55	42				
KRT82	3888	broad.mit.edu	37	12	52788848	52788848	+	Missense_Mutation	SNP	C	C	T	rs140708995		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52788848C>T	uc001sai.1	-	9	1568	c.1453G>A	c.(1453-1455)GAG>AAG	p.E485K		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	485	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCTGGGGCTCGCAGGGGACA	0.642		NaN											0	0	0	0.009535	0	29	73				
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56478854G>T	uc001sjh.2	+	3	503	c.310G>T	c.(310-312)GTG>TTG	p.V104L	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517		NaN											1	0	1.00155e-58	0.01441	1.16692e-58	94	70		Valid		
ZC3H10	84872	broad.mit.edu	37	12	56515127	56515127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56515127C>T	uc001sjp.1	+	3	970	c.781C>T	c.(781-783)CTG>TTG	p.L261L		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	261	Potential.						nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTCAGCAACCTGCTGGCCAC	0.552		NaN											0	0	0	0.004878	0	36	78				
TIMELESS	8914	broad.mit.edu	37	12	56818910	56818910	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56818910C>T	uc001slf.2	-	14	1773	c.1605G>A	c.(1603-1605)AAG>AAA	p.K535K		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	535					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						Ccttcttcttcttcttccttc	0.418		NaN											0	0	0	0.01441	0	67	36				
GLI1	2735	broad.mit.edu	37	12	57864227	57864227	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:57864227C>T	uc001snx.2	+	12	1782	c.1704C>T	c.(1702-1704)GGC>GGT	p.G568G	GLI1_uc009zpq.2_Silent_p.G440G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	568					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCCCCCTGGCTCCCCACCAG	0.622		NaN											0	0	0	0.003954	0	23	100				
CDK4	1019	broad.mit.edu	37	12	58143281	58143281	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:58143281G>A	uc001spv.2	-	6	866	c.639C>T	c.(637-639)CTC>CTT	p.L213L	CDK4_uc010ssb.1_Silent_p.L93L|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCCACAGAAGAGAGGCCTAA	0.408		NaN	Mis			melanoma 			Hereditary_Melanoma				0	0	0	0.00245	0	13	39				
C12orf66	144577	broad.mit.edu	37	12	64588164	64588164	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64588164G>A	uc001srw.3	-	3	855	c.796C>T	c.(796-798)CTT>TTT	p.L266F	C12orf66_uc009zql.2_Missense_Mutation_p.L213F	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	266										ovary(1)	1						AACTTGGCAAGAAGCATGTTT	0.463		NaN											0	0	0	0.01441	0	43	109				
C12orf56	115749	broad.mit.edu	37	12	64679744	64679744	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64679744C>T	uc001ssa.3	-	5	730	c.730G>A	c.(730-732)GAT>AAT	p.D244N	uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	407											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCAGCTCATCAACCCTTTGG	0.363		NaN											0	0	0	0.00308	0	8	13				
PRKAB1	5564	broad.mit.edu	37	12	120106160	120106160	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120106160G>A	uc009zwu.2	+	2	214	c.111G>A	c.(109-111)CTG>CTA	p.L37L	PRKAB1_uc001txg.2_Silent_p.L37L	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	AMP-activated protein kinase beta 1	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CCAAGATCCTGATGGACAGCC	0.647		NaN											0	0	0	0.007291	0	27	15				
CIT	11113	broad.mit.edu	37	12	120214582	120214582	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120214582G>A	uc001txi.1	-	14	1783	c.1730C>T	c.(1729-1731)TCA>TTA	p.S577L	CIT_uc001txh.1_Missense_Mutation_p.S111L|CIT_uc001txj.1_Missense_Mutation_p.S577L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	577	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCTTGCTGAGACAAGATC	0.448		NaN											0	0	0	0.01441	0	118	54				
TMEM132B	114795	broad.mit.edu	37	12	126138414	126138414	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:126138414G>A	uc001uhe.1	+	9	2403	c.2395G>A	c.(2395-2397)GGC>AGC	p.G799S	TMEM132B_uc001uhf.1_Missense_Mutation_p.G311S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	799	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCACCAAGGAGGCAGCAATGA	0.458		NaN											0	0	0	0.010818	0	31	73				
RIMBP2	23504	broad.mit.edu	37	12	130923033	130923033	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:130923033G>A	uc001uil.2	-	9	1646	c.1482C>T	c.(1480-1482)ACC>ACT	p.T494T	RIMBP2_uc001uim.2_Silent_p.T402T|RIMBP2_uc001uin.1_Silent_p.T153T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	494	Fibronectin type-III 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCCTGGACGGTAACATCTT	0.672		NaN											0	0	0	0.00245	0	15	9				
SACS	26278	broad.mit.edu	37	13	23929191	23929191	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:23929191C>G	uc001uon.2	-	8	2149	c.1560G>C	c.(1558-1560)AAG>AAC	p.K520N	SACS_uc001uoo.2_Missense_Mutation_p.K373N|SACS_uc001uop.1_Missense_Mutation_p.K307N|SACS_uc001uoq.1_Missense_Mutation_p.K373N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	520					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCAGAGCTCTTTTCCATCT	0.453		NaN											0	0	0	0.01441	0	63	112				
LAMP1	3916	broad.mit.edu	37	13	113975875	113975875	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:113975875C>T	uc001vtm.1	+	8	1228	c.947C>T	c.(946-948)CCT>CTT	p.P316L	LAMP1_uc010tka.1_Missense_Mutation_p.P263L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	316	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTTGCAGACCCTGCCTTTAAA	0.522		NaN											0	0	0	0.01441	0	90	50				
OSGEP	55644	broad.mit.edu	37	14	20916071	20916071	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:20916071C>A	uc001vxf.2	-	8	1141	c.785G>T	c.(784-786)GGA>GTA	p.G262V		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	262					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ACACCCCACTCCTCCCACAAT	0.473		NaN											1	0	5.07675e-46	0.01441	5.84216e-46	103	59				
ACIN1	22985	broad.mit.edu	37	14	23548812	23548812	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:23548812C>G	uc001wit.3	-	6	2234	c.1906G>C	c.(1906-1908)GAG>CAG	p.E636Q	ACIN1_uc001wis.3_Missense_Mutation_p.E318Q|ACIN1_uc010akg.2_Missense_Mutation_p.E636Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E596Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	636	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCTGGACTCTGATGTTGAT	0.488		NaN											0	0	0	0.01441	0	95	106				
IRF9	10379	broad.mit.edu	37	14	24631433	24631433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:24631433G>A	uc001wmq.2	+	2	207	c.80G>A	c.(79-81)GGA>GAA	p.G27E	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	27	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CAGTTTCCCGGAGTGTGCTGG	0.577		NaN											0	0	0	0.01441	0	63	76				
AKAP6	9472	broad.mit.edu	37	14	33291368	33291368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:33291368C>T	uc001wrq.2	+	13	4519	c.4349C>T	c.(4348-4350)ACC>ATC	p.T1450I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1450					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAAACATACCCCTGACTGT	0.373		NaN											0	0	0	0.007291	0	30	28				
MAP4K5	11183	broad.mit.edu	37	14	50910669	50910669	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:50910669T>G	uc001wya.2	-	19	1745	c.1425A>C	c.(1423-1425)AAA>AAC	p.K475N	MAP4K5_uc001wyb.2_Missense_Mutation_p.K475N|MAP4K5_uc010anv.1_Missense_Mutation_p.K475N|MAP4K5_uc001wyc.1_Missense_Mutation_p.K149N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	475					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGAAGTCTCGTTTGTCCTTTT	0.353		NaN											0	0	0	0.001168	0	6	7				
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:92506013C>G	uc001xzy.2	-	1	805	c.17G>C	c.(16-18)GGG>GCG	p.G6A	TRIP11_uc001xzz.3_RNA	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577		NaN	T	PDGFRB	AML								0	0	0	0.009096	0	4	9				
ATP10A	57194	broad.mit.edu	37	15	25958905	25958905	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:25958905G>A	uc010ayu.2	-	10	2366	c.2260C>T	c.(2260-2262)CGG>TGG	p.R754W		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCGGGTGCCGGATCACCACT	0.607		NaN											0	0	0	0.007291	0	31	65				
HERC2	8924	broad.mit.edu	37	15	28375401	28375401	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:28375401A>G	uc001zbj.2	-	83	12816	c.12710T>C	c.(12709-12711)GTT>GCT	p.V4237A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4237	RCC1 18.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCCTTCGAACATGGTCATC	0.552		NaN											0	0	0	0.01441	0	80	187				
CASC5	57082	broad.mit.edu	37	15	40939188	40939188	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:40939188G>A	uc010bbs.1	+	18	6249	c.6088G>A	c.(6088-6090)GAG>AAG	p.E2030K	CASC5_uc010bbt.1_Missense_Mutation_p.E2004K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2030	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TATTTAGAATGAGAGGGAGAA	0.303		NaN											0	0	0	0.012319	0	22	27				
MAP1A	4130	broad.mit.edu	37	15	43815124	43815124	+	Missense_Mutation	SNP	A	A	C	rs2584715		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815124A>C	uc001zrt.2	+	4	1920	c.1453A>C	c.(1453-1455)AAA>CAA	p.K485Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	485	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGAAGAGTCAAAATAGACAG	0.527		NaN											0	0	0	0.00308	0	8	33				
MAP1A	4130	broad.mit.edu	37	15	43815610	43815610	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815610G>A	uc001zrt.2	+	4	2406	c.1939G>A	c.(1939-1941)GAA>AAA	p.E647K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	647						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGTGAACCTGAAGTAAAGGA	0.488		NaN											0	0	0	0.004007	0	15	27				
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815622G>A	uc001zrt.2	+	4	2418	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473		NaN											0	0	0	0.004007	0	15	26				
MAP1A	4130	broad.mit.edu	37	15	43816951	43816951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43816951C>T	uc001zrt.2	+	4	3747	c.3280C>T	c.(3280-3282)CAG>TAG	p.Q1094*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1094						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTGCCAGCACAGGATAAAGC	0.542		NaN											0	0	0	0.001168	0	6	161				
DUOXA2	405753	broad.mit.edu	37	15	45408927	45408927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:45408927G>A	uc001zuo.2	+	4	834	c.554G>A	c.(553-555)TGG>TAG	p.W185*	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	185	Helical; (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCCACGCTATGGTAAGTGCTG	0.642		NaN											0	0	0	0.010504	0	19	25				
LACTB	114294	broad.mit.edu	37	15	63433729	63433729	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:63433729G>A	uc002alw.2	+	6	1408	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	457						mitochondrion	hydrolase activity				0						TTGGGATAAAGAGGGTAAATA	0.433		NaN											0	0	0	0.007291	0	30	70				
SCAPER	49855	broad.mit.edu	37	15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:76958034T>A	uc002bby.2	-	20	2664	c.2605A>T	c.(2605-2607)AAA>TAA	p.K869*	SCAPER_uc010bkr.2_Nonsense_Mutation_p.K177*|SCAPER_uc002bbx.2_Nonsense_Mutation_p.K623*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.K740*|SCAPER_uc002bca.1_Nonsense_Mutation_p.K734*	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	868						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						GCTTTTTTTTTATTTTTTTGC	0.348		NaN											0	0	0	0.009096	0	3	2				
ZNF710	374655	broad.mit.edu	37	15	90617419	90617419	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:90617419C>T	uc002bov.1	+	4	1845	c.1722C>T	c.(1720-1722)CCC>CCT	p.P574P		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCAGCAAGCCCTTCAAGTGCC	0.587		NaN											0	0	0	0.01441	0	49	29				
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:91428341C>T	uc002bpv.2	+	2	162	c.66C>T	c.(64-66)GCC>GCT	p.A22A	FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	22	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602		NaN											0	0	0	0.01441	0	78	125				
TTC23	64927	broad.mit.edu	37	15	99696485	99696485	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:99696485C>T	uc002bur.2	-	11	1542	c.1011G>A	c.(1009-1011)CTG>CTA	p.L337L	TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	337							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGGACTCTCTCAGGATCGAGG	0.502		NaN											0	0	0	0.01441	0	58	36				
PCSK6	5046	broad.mit.edu	37	15	101938609	101938609	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:101938609C>T	uc002bwy.2	-	8	1310	c.996G>A	c.(994-996)AAG>AAA	p.K332K	PCSK6_uc010bpd.2_Silent_p.K202K|PCSK6_uc010bpe.2_Silent_p.K332K|PCSK6_uc002bxa.2_Silent_p.K332K|PCSK6_uc002bxb.2_Silent_p.K332K|PCSK6_uc002bxc.1_Silent_p.K332K|PCSK6_uc002bxd.1_Silent_p.K332K|PCSK6_uc002bxe.2_Silent_p.K332K|PCSK6_uc002bxg.1_Silent_p.K332K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	332	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGC	0.557		NaN											0	0	0	0.01441	0	57	147				
SMG1	23049	broad.mit.edu	37	16	18856889	18856889	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:18856889G>A	uc002dfm.2	-	39	6444	c.6081C>T	c.(6079-6081)ATC>ATT	p.I2027I	SMG1_uc010bwb.2_Silent_p.I1887I|SMG1_uc010bwa.2_Silent_p.I758I|SMG1_uc002dfo.3_Silent_p.I325I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2027					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GAGCCGCTGTGATACTCCTCA	0.433		NaN											0	0	0	0.01441	0	85	54				
TNRC6A	27327	broad.mit.edu	37	16	24803020	24803020	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:24803020G>A	uc002dmm.2	+	6	3171	c.3057G>A	c.(3055-3057)GTG>GTA	p.V1019V	TNRC6A_uc010bxs.2_Silent_p.V766V|TNRC6A_uc010vcc.1_Silent_p.V766V|TNRC6A_uc002dmn.2_Silent_p.V766V|TNRC6A_uc002dmo.2_Silent_p.V766V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1019	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ACAAAAATGTGAACATGTGGA	0.468		NaN											0	0	0	0.010729	0	11	93				
TGFB1I1	7041	broad.mit.edu	37	16	31485480	31485480	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:31485480C>A	uc002ecd.1	+	5	359	c.333C>A	c.(331-333)ATC>ATA	p.I111I	TGFB1I1_uc002ece.1_Silent_p.I94I|TGFB1I1_uc010caq.1_Intron	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	111	Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CAGATGAAATCATGTCTCAGT	0.512		NaN											1	0	4.74835e-14	0.010818	5.11782e-14	29	24				
AMFR	267	broad.mit.edu	37	16	56436917	56436917	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:56436917C>T	uc002eiy.2	-	7	1159	c.954G>A	c.(952-954)GTG>GTA	p.V318V	AMFR_uc002eix.2_Nonsense_Mutation_p.W16*	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	318					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						TGTTTCCAACCACACGTAGAT	0.443		NaN											0	0	0	0.01441	0	69	99				
CDH8	1006	broad.mit.edu	37	16	61747750	61747750	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:61747750T>C	uc002eog.1	-	10	1901	c.1649A>G	c.(1648-1650)AAT>AGT	p.N550S		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	550	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTACCTTCATTTTTCTTGAT	0.308		NaN											0	0	0	0.00308	0	8	18				
ZCCHC14	23174	broad.mit.edu	37	16	87493735	87493735	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:87493735G>A	uc002fjz.1	-	2	189	c.162C>T	c.(160-162)ATC>ATT	p.I54I	ZCCHC14_uc002fka.1_RNA	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	54					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCTTGGAGTGATCTGAGGGA	0.443		NaN											0	0	0	0.004482	0	8	153				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	73	2		Valid		
KIAA0100	9703	broad.mit.edu	37	17	26958634	26958634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:26958634G>A	uc002hbu.2	-	23	4261	c.4162C>T	c.(4162-4164)CAG>TAG	p.Q1388*		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1388						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACGGTCACCTGACTTAGGTCA	0.527		NaN											0	0	0	0.00333	0	25	83				
ATAD5	79915	broad.mit.edu	37	17	29161248	29161248	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:29161248G>C	uc002hfs.1	+	2	495	c.149G>C	c.(148-150)AGA>ACA	p.R50T	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	50					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGGAAGACTAGAGACAGGGTT	0.368		NaN											0	0	0	0.009535	0	31	89				
MYO1D	4642	broad.mit.edu	37	17	31203816	31203816	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:31203816G>A	uc002hho.1	-	1	87	c.75C>T	c.(73-75)TTC>TTT	p.F25F	MYO1D_uc002hhp.1_Silent_p.F25F|MYO1D_uc010wcb.1_Silent_p.F25F	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	25	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGTTGGCCATGAACTCGGGCA	0.721		NaN											0	0	0	0.004672	0	3	3				
MPP2	4355	broad.mit.edu	37	17	41957217	41957217	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:41957217G>A	uc010wip.1	-	11	1478	c.1421C>T	c.(1420-1422)ACA>ATA	p.T474I	MPP2_uc002ien.1_Missense_Mutation_p.T446I|MPP2_uc010wim.1_Missense_Mutation_p.T418I|MPP2_uc002ieo.1_Missense_Mutation_p.T429I|MPP2_uc010win.1_Missense_Mutation_p.T290I|MPP2_uc010wio.1_Missense_Mutation_p.T418I	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	453	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCAATACGTGTGCCATACAG	0.627		NaN									OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004289	0	37	78				
COIL	8161	broad.mit.edu	37	17	55027348	55027348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:55027348G>A	uc002iuu.2	-	2	1286	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	419	3-4.|4 X 2 AA tandem repeats of R-G.|2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					GGATGCCCTCGTCCTCGACCT	0.478		NaN											0	0	0	0.01441	0	54	111				
ABCA6	23460	broad.mit.edu	37	17	67075206	67075206	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:67075206C>G	uc002jhw.1	-	39	4937	c.4762G>C	c.(4762-4764)GAG>CAG	p.E1588Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1588					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					TTAGAAAGCTCTAAGAATACC	0.353		NaN											0	0	0	0.010504	0	22	26				
TBC1D16	125058	broad.mit.edu	37	17	77922709	77922709	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:77922709G>T	uc002jxj.2	-	8	1619	c.1503C>A	c.(1501-1503)TTC>TTA	p.F501L	TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCCGGAAGAACTGGTTGT	0.572		NaN											1	0	4.24508e-63	0.01441	4.96144e-63	102	148				
PPP4R1	9989	broad.mit.edu	37	18	9553378	9553378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:9553378G>A	uc002koe.1	-	16	2351	c.2233C>T	c.(2233-2235)CAG>TAG	p.Q745*	PPP4R1_uc002kof.2_Nonsense_Mutation_p.Q162*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q591*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q728*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	745					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AAAAACTCCTGAAGTTGATAA	0.328		NaN											0	0	0	0.012213	0	30	37				
PSMA8	143471	broad.mit.edu	37	18	23731808	23731808	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:23731808G>C	uc002kvq.2	+	3	348	c.234G>C	c.(232-234)TTG>TTC	p.L78F	PSMA8_uc002kvo.2_Intron|PSMA8_uc002kvp.2_Intron|PSMA8_uc002kvr.2_Intron	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTGAAGTTTTGACAATTTTTA	0.358		NaN											0	0	0	0.01441	0	77	28				
ELP2	55250	broad.mit.edu	37	18	33744590	33744590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:33744590G>A	uc002kzk.1	+	18	1924	c.1914G>A	c.(1912-1914)TGG>TGA	p.W638*	ELP2_uc010xcg.1_Nonsense_Mutation_p.W703*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.W612*|ELP2_uc010xch.1_Nonsense_Mutation_p.W633*|ELP2_uc002kzn.1_Nonsense_Mutation_p.W568*|ELP2_uc002kzo.1_Nonsense_Mutation_p.W568*	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	638	WD 11.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						ATCGAACCTGGTCATTGTGGA	0.398		NaN											0	0	0	0.008361	0	29	32				
POLI	11201	broad.mit.edu	37	18	51804150	51804150	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:51804150G>C	uc002lfj.3	+	4	552	c.484G>C	c.(484-486)GAG>CAG	p.E162Q	POLI_uc010xds.1_Missense_Mutation_p.E162Q|POLI_uc002lfk.3_Missense_Mutation_p.E59Q|POLI_uc002lfl.1_Missense_Mutation_p.E94Q	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	162	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAAATGGTTGAGAAGAGACT	0.373		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.00245	0	14	17				
ZNF532	55205	broad.mit.edu	37	18	56601746	56601746	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:56601746C>A	uc002lho.2	+	5	2975	c.2428C>A	c.(2428-2430)CCC>ACC	p.P810T	ZNF532_uc002lhp.2_Missense_Mutation_p.P808T|ZNF532_uc010xeg.1_Missense_Mutation_p.P808T|ZNF532_uc002lhr.2_Missense_Mutation_p.P808T|ZNF532_uc002lhs.2_Missense_Mutation_p.P808T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCACAAATCTCCCTACACCTG	0.522		NaN											1	0	1.4709e-25	0.01441	1.64706e-25	59	91				
ZNF516	9658	broad.mit.edu	37	18	74154543	74154543	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:74154543G>T	uc010dqx.1	-	2	703	c.468C>A	c.(466-468)AGC>AGA	p.S156R	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCCTTCTTGCTGCTCCGCA	0.701		NaN											1	0	0.00024832	0.009096	0.000255142	4	4				
NFATC1	4772	broad.mit.edu	37	18	77171093	77171093	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:77171093G>T	uc010xfg.1	+	2	1271	c.818G>T	c.(817-819)CGG>CTG	p.R273L	NFATC1_uc002lnc.1_Missense_Mutation_p.R273L|NFATC1_uc010xff.1_Missense_Mutation_p.R273L|NFATC1_uc002lnd.2_Missense_Mutation_p.R273L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.R273L|NFATC1_uc010xfi.1_Missense_Mutation_p.R260L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.R260L|NFATC1_uc002lng.2_Missense_Mutation_p.R260L|NFATC1_uc010xfk.1_Missense_Mutation_p.R260L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	273	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCAACGGCCGGCAGCCGCCC	0.706		NaN											1	0	2.27111e-07	0.013537	2.37926e-07	13	40				
SEMA6B	10501	broad.mit.edu	37	19	4550226	4550226	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:4550226C>T	uc010duc.1	-	11	1218	c.1180G>A	c.(1180-1182)GAC>AAC	p.D394N	SEMA6B_uc010dud.2_Missense_Mutation_p.D394N|SEMA6B_uc010xih.1_Missense_Mutation_p.D394N	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	394	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGGATGTCATCCGGCAAG	0.642		NaN											0	0	0	0.007835	0	37	31				
ZNF560	147741	broad.mit.edu	37	19	9578205	9578205	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:9578205G>A	uc002mlp.1	-	10	1628	c.1418C>T	c.(1417-1419)TCA>TTA	p.S473L	ZNF560_uc010dwr.1_Missense_Mutation_p.S367L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						AATAACACCTGAGGATGTACC	0.393		NaN											0	0	0	0.013114	0	45	181				
ICAM5	7087	broad.mit.edu	37	19	10405105	10405105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:10405105C>A	uc002mnu.3	+	9	2084	c.2019C>A	c.(2017-2019)TGC>TGA	p.C673*	ICAM5_uc002mnv.3_Nonsense_Mutation_p.C548*	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	673	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AATCTACCTGCCCAAGTCACC	0.692		NaN											1	0	2.14255e-21	0.01441	2.37075e-21	61	34				
SMARCA4	6597	broad.mit.edu	37	19	11152120	11152120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11152120G>C	uc002mqf.3	+	30	4592	c.4308G>C	c.(4306-4308)GAG>GAC	p.E1436D	SMARCA4_uc010dxp.2_Missense_Mutation_p.E1436D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1468D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1403D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1403D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1406D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1406D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E526D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1436					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGACGACGAGAGCAAGAAGC	0.617		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.014323	0	22	11		Valid		
ZNF653	115950	broad.mit.edu	37	19	11597944	11597944	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11597944C>T	uc002mrz.1	-	5	1254	c.1201G>A	c.(1201-1203)GAG>AAG	p.E401K		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCTTCTCCTCCTTCTTTAGC	0.647		NaN											0	0	0	0.01441	0	51	84				
ZNF878	729747	broad.mit.edu	37	19	12154731	12154731	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12154731G>A	uc002mta.1	-	5	1626	c.1626C>T	c.(1624-1626)CTC>CTT	p.L542L		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	495	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TTTCATGGTAGAGAAAAGAGT	0.393		NaN											0	0	0	0.010504	0	21	39				
JUNB	3726	broad.mit.edu	37	19	12902839	12902839	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12902839C>T	uc002mvc.2	+	1	530	c.254C>T	c.(253-255)TCG>TTG	p.S85L	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	85						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						CTCGCCTCTTCGGAGCTGGAA	0.687		NaN											0	0	0	0.000602	0	4	21				
SYCE2	256126	broad.mit.edu	37	19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:13015434A>C	uc002mvr.2	-	3	193	c.178T>G	c.(178-180)TTC>GTC	p.F60V		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					cell division	central element					0						AGAGAGGAGAAGTAGAGTCCC	0.537		NaN											0	0	0	0.00308	0	8	196				
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:16790904C>T	uc002nes.2	+	2	325	c.234C>T	c.(232-234)ATC>ATT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGCCACTGATCGATTACTTCA	0.602		NaN											0	0	0	0.013114	0	45	74				
PLVAP	83483	broad.mit.edu	37	19	17487748	17487748	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17487748C>T	uc002ngk.1	-	1	400	c.350G>A	c.(349-351)CGC>CAC	p.R117H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	117	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTGGCACTGGCGGAAGCTGGC	0.428		NaN											0	0	0	0.010504	0	19	37				
SLC27A1	376497	broad.mit.edu	37	19	17611152	17611152	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611152C>A	uc002ngu.1	+	8	1322	c.1272C>A	c.(1270-1272)GTC>GTA	p.V424V	SLC27A1_uc010xpp.1_Silent_p.V245V|SLC27A1_uc002ngv.1_Silent_p.V26V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	424	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						TGGTGAAGGTCAATGAGGACA	0.662		NaN											1	0	4.22769e-11	0.00632	4.4792e-11	29	127				
SLC27A1	376497	broad.mit.edu	37	19	17611371	17611371	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611371C>G	uc002ngu.1	+	9	1451	c.1401C>G	c.(1399-1401)GTC>GTG	p.V467V	SLC27A1_uc010xpp.1_Silent_p.V288V|SLC27A1_uc002ngv.1_Silent_p.V69V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	467	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						ATGGCTATGTCAGCGAGAGCG	0.642		NaN											0	0	0	0.003163	0	16	37				
TSHZ3	57616	broad.mit.edu	37	19	31768032	31768032	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:31768032C>T	uc002nsy.3	-	2	2732	c.2667G>A	c.(2665-2667)CAG>CAA	p.Q889Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	889					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTTCCTCTTCTGGGCGGGCG	0.612		NaN											0	0	0	0.01441	0	51	50				
GPI	2821	broad.mit.edu	37	19	34884660	34884660	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:34884660C>T	uc002nvg.1	+	11	996	c.893C>T	c.(892-894)TCG>TTG	p.S298L	GPI_uc002nvf.2_Missense_Mutation_p.S337L|GPI_uc010xrv.1_Missense_Mutation_p.S309L|GPI_uc010xrw.1_Missense_Mutation_p.S270L|GPI_uc010edl.1_Missense_Mutation_p.S298L|GPI_uc002nvi.1_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	298					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					CAGCTGCTCTCGGGGGCTCAC	0.602		NaN											0	0	0	0.01441	0	74	92				
C19orf55	148137	broad.mit.edu	37	19	36256029	36256029	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:36256029G>A	uc002obq.1	+	7	794	c.721G>A	c.(721-723)GAG>AAG	p.E241K		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	241	Ser-rich.									ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCCTTCTCGGAGACCTTCAT	0.478		NaN											0	0	0	0.004007	0	16	222				
RYR1	6261	broad.mit.edu	37	19	38945908	38945908	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:38945908C>T	uc002oit.2	+	14	1604	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	RYR1_uc002oiu.2_Missense_Mutation_p.R492C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	492	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCATAGACCGCCTAAATGT	0.507		NaN											0	0	0	0.01441	0	65	105				
PRX	57716	broad.mit.edu	37	19	40901226	40901226	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:40901226C>T	uc002onr.2	-	7	3302	c.3033G>A	c.(3031-3033)GGG>GGA	p.G1011G	PRX_uc002onq.2_Silent_p.G872G|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1011					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTCGGCCCCTGCCACCT	0.647		NaN											0	0	0	0.01441	0	72	80				
RTN2	6253	broad.mit.edu	37	19	45996515	45996515	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:45996515G>T	uc002pcb.2	-	5	1164	c.936C>A	c.(934-936)CCC>CCA	p.P312P	RTN2_uc002pcc.2_Intron|RTN2_uc002pcd.2_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	312						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGAGTAGGGGGGGTGGGGC	0.562		NaN											1	0	5.61819e-17	0.005443	6.12595e-17	28	234				
GRIN2D	2906	broad.mit.edu	37	19	48919324	48919324	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:48919324C>T	uc002pjc.3	+	7	1735	c.1647C>T	c.(1645-1647)ATC>ATT	p.I549I		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	549	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTCCGAGATCGTGGACTTCT	0.662		NaN											0	0	0	0.004289	0	36	118				
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49377076G>A	uc002pky.3	+	2	855	c.586G>A	c.(586-588)GAA>AAA	p.E196K		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532		NaN											0	0	0	0.004482	0	7	129				
NTF4	4909	broad.mit.edu	37	19	49564969	49564969	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49564969C>T	uc002pmf.3	-	2	427	c.286G>A	c.(286-288)GTG>ATG	p.V96M	CGB7_uc010yah.1_Intron	NM_006179	NP_006170	P34130	NTF4_HUMAN	neurotrophin 5 preproprotein	96					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity				0		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCATCGCACACAGCCAGCTCA	0.701		NaN											0	0	0	0.005524	0	38	34				
PPFIA3	8541	broad.mit.edu	37	19	49643309	49643309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49643309C>T	uc002pmr.2	+	18	2664	c.2332C>T	c.(2332-2334)CGA>TGA	p.R778*	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.R646*|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	778						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGAGAAGGGACGAATGGGACC	0.428		NaN											0	0	0	0.01441	0	47	78				
POLD1	5424	broad.mit.edu	37	19	50905324	50905324	+	Missense_Mutation	SNP	G	G	T	rs140707092		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50905324G>T	uc002psb.3	+	5	588	c.532G>T	c.(532-534)GGG>TGG	p.G178W	POLD1_uc002psc.3_Missense_Mutation_p.G178W|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G178W	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	178					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACAGTCGCGGGGGGAGGGA	0.672		NaN						DNA_polymerases_(catalytic_subunits)					1	0	8.72198e-27	0.01441	9.79586e-27	49	53				
POLD1	5424	broad.mit.edu	37	19	50918133	50918133	+	Missense_Mutation	SNP	G	G	A	rs142017093		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50918133G>A	uc002psb.3	+	20	2506	c.2450G>A	c.(2449-2451)CGG>CAG	p.R817Q	POLD1_uc002psc.3_Missense_Mutation_p.R817Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R843Q	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	817					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCCTCCCGGCCCGACGCC	0.667		NaN						DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013114	0	46	49				
KLK15	55554	broad.mit.edu	37	19	51330209	51330209	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330209C>T	uc002ptl.2	-	3	437	c.406G>A	c.(406-408)GAG>AAG	p.E136K	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.E136K|KLK15_uc002pto.2_Missense_Mutation_p.E135K|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.E135K|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	136	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACACAGGCCTCCCCCGGGTGG	0.692		NaN											0	0	0	0.003163	0	16	97				
KLK15	55554	broad.mit.edu	37	19	51330397	51330397	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330397C>T	uc002ptl.2	-	3	249	c.218G>A	c.(217-219)GGA>GAA	p.G73E	KLK15_uc002ptm.2_Missense_Mutation_p.G73E|KLK15_uc002ptn.2_Missense_Mutation_p.G73E|KLK15_uc002pto.2_Missense_Mutation_p.G72E|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.G72E|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTTGTGCTCTCCCAGGCGCAC	0.622		NaN											0	0	0	0.008871	0	20	120				
ZNF614	80110	broad.mit.edu	37	19	52519431	52519431	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:52519431C>T	uc002pyj.2	-	5	1822	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.E177K	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGACATCTCTCATGTTGTATG	0.408		NaN											0	0	0	0.005443	0	27	291				
ZNF761	388561	broad.mit.edu	37	19	53958557	53958557	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:53958557G>A	uc010eqp.2	+	7	1254	c.796G>A	c.(796-798)GGT>AGT	p.G266S	ZNF761_uc010ydy.1_Missense_Mutation_p.G212S|ZNF761_uc002qbt.1_Missense_Mutation_p.G212S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ATGTCACACTGGTGAGAATCC	0.413		NaN											0	0	0	0.01441	0	146	234				
NLRP5	126206	broad.mit.edu	37	19	56538965	56538965	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:56538965C>T	uc002qmj.2	+	7	1366	c.1366C>T	c.(1366-1368)CGT>TGT	p.R456C	NLRP5_uc002qmi.2_Missense_Mutation_p.R437C	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	456	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGGGTTGCGTGCGATCAT	0.592		NaN											0	0	0	0.00333	0	25	36				
ROCK2	9475	broad.mit.edu	37	2	11338883	11338883	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:11338883C>T	uc002rbd.1	-	24	3377	c.2928G>A	c.(2926-2928)AGG>AGA	p.R976R		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	976	Potential.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAGTTAGTGTCCTATTAGTTT	0.279		NaN											0	0	0	0.00245	0	11	33				
RHOB	388	broad.mit.edu	37	2	20647365	20647365	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:20647365G>A	uc002rdv.2	+	1	531	c.139G>A	c.(139-141)GAG>AAG	p.E47K		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	47					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GGCCGACATTGAGGTGGACGG	0.647		NaN											0	0	0	0.005443	0	28	101		Valid		
ZNF512	84450	broad.mit.edu	37	2	27825413	27825413	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:27825413C>G	uc002rla.2	+	8	840	c.753C>G	c.(751-753)CTC>CTG	p.L251L	ZNF512_uc010ylv.1_Silent_p.L172L|ZNF512_uc010ylw.1_Silent_p.L222L|ZNF512_uc002rlb.2_Silent_p.L172L|ZNF512_uc010ylx.1_Silent_p.L172L|ZNF512_uc002rlc.2_Silent_p.L172L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.L144L	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGGGAAAGCTCAGGTGCATGC	0.463		NaN											0	0	0	0.004482	0	7	54				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874166	48874166	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:48874166A>G	uc010yol.1	+	5	2981	c.2934A>G	c.(2932-2934)ATA>ATG	p.I978M	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I1025M|GTF2A1L_uc002rws.1_Missense_Mutation_p.I321M|GTF2A1L_uc010yom.1_Missense_Mutation_p.I287M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.I321M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	978					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAACATACCTGTATCAG	0.393		NaN											0	0	0	0.00278	0	23	53				
NRXN1	9378	broad.mit.edu	37	2	50733754	50733754	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:50733754G>T	uc010fbq.2	-	13	3973	c.2496C>A	c.(2494-2496)AGC>AGA	p.S832R	NRXN1_uc002rxb.3_Missense_Mutation_p.S464R|NRXN1_uc002rxe.3_Missense_Mutation_p.S792R|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGGACCTTTGCCTGTAGAAT	0.358		NaN											1	0	2.0095e-06	0.001984	2.08764e-06	7	66				
EFEMP1	2202	broad.mit.edu	37	2	56144828	56144828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:56144828G>C	uc002rzh.2	-	4	819	c.489C>G	c.(487-489)TAC>TAG	p.Y163*	EFEMP1_uc002rzi.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc002rzj.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc010ypc.1_Nonsense_Mutation_p.Y105*	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	163					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTTTGCTCGTAGCCTGCTG	0.507		NaN											0	0	0	0.01441	0	58	225				
FAM161A	84140	broad.mit.edu	37	2	62067209	62067209	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:62067209C>T	uc010ypo.1	-	3	1032	c.930G>A	c.(928-930)CTG>CTA	p.L310L	FAM161A_uc002sbm.3_Silent_p.L310L|FAM161A_uc002sbn.3_Silent_p.L120L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.L201L	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	310	Potential.				response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TTTTCTCCTTCAGAGACCTTC	0.443		NaN											0	0	0	0.01441	0	62	268				
STAMBP	10617	broad.mit.edu	37	2	74074811	74074811	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:74074811G>T	uc002sjs.2	+	5	723	c.673G>T	c.(673-675)GTA>TTA	p.V225L	STAMBP_uc002sjt.2_Missense_Mutation_p.V225L|STAMBP_uc002sju.2_Missense_Mutation_p.V225L|STAMBP_uc002sjv.2_Missense_Mutation_p.V225L	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	225					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						TCACACAACTGTAAGGCCAGC	0.517		NaN											1	0	3.5997e-14	0.014323	3.891e-14	23	153				
LRRTM1	347730	broad.mit.edu	37	2	80529551	80529551	+	Missense_Mutation	SNP	A	A	C	rs148119501	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:80529551A>C	uc002sok.1	-	2	1664	c.1394T>G	c.(1393-1395)GTC>GGC	p.V465G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	465	Cytoplasmic (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCGCTGCGTGACAAAGCACTG	0.532		NaN								HNSCC(69;0.2)			0	0	0	0.014323	0	20	126				
C2orf29	55571	broad.mit.edu	37	2	101869621	101869621	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:101869621G>A	uc002taw.3	+	1	277	c.195G>A	c.(193-195)CCG>CCA	p.P65P		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	65					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCTTGACCCCGAAGGAGCTCT	0.527		NaN											0	0	0	0.00308	0	7	25				
IL18RAP	8807	broad.mit.edu	37	2	103063657	103063657	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:103063657G>C	uc002tbx.2	+	10	1684	c.1200G>C	c.(1198-1200)CAG>CAC	p.Q400H	IL18RAP_uc010fiz.2_Missense_Mutation_p.Q258H	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	400	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						GCAAGGATCAGACGCTTGGGG	0.557		NaN											0	0	0	0.01441	0	225	180				
CNTNAP5	129684	broad.mit.edu	37	2	125192129	125192129	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:125192129A>T	uc002tno.2	+	5	962	c.598A>T	c.(598-600)ACT>TCT	p.T200S	CNTNAP5_uc010flu.2_Missense_Mutation_p.T200S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	200	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGATGAGTACTCTCAAAGA	0.468		NaN											0	0	0	0.014323	0	22	77				
ACVR2A	92	broad.mit.edu	37	2	148676128	148676128	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:148676128T>A	uc002twg.2	+	8	1198	c.929T>A	c.(928-930)CTA>CAA	p.L310Q	ACVR2A_uc010zbn.1_Missense_Mutation_p.L202Q|ACVR2A_uc002twh.2_Missense_Mutation_p.L310Q	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	310	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATACCTGGCCTAAAAGATGGC	0.378		NaN											0	0	0	0.001855	0	5	43				
NEB	4703	broad.mit.edu	37	2	152468823	152468823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:152468823C>G	uc010fnx.2	-	74	11144	c.10953G>C	c.(10951-10953)AAG>AAC	p.K3651N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3651	Nebulin 100.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAGCTCTCTTCACTTTCT	0.458		NaN											0	0	0	0.00623	0	37	21				
NR4A2	4929	broad.mit.edu	37	2	157182439	157182439	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:157182439G>A	uc002tyz.3	-	8	2036	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	538					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGAAAGTCACGTGGTCTTTGA	0.463		NaN											0	0	0	0.00632	0	28	60				
ACVR1C	130399	broad.mit.edu	37	2	158406900	158406900	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:158406900T>C	uc002tzk.3	-	4	792	c.549A>G	c.(547-549)CTA>CTG	p.L183L	ACVR1C_uc002tzl.3_Silent_p.L103L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.L133L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	183	Cytoplasmic (Potential).|GS.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						CCAACAGAGGTAGACCTAACC	0.368		NaN											0	0	0	0.01441	0	61	32				
TANK	10010	broad.mit.edu	37	2	162088031	162088031	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:162088031C>A	uc002ubr.1	+	7	1228	c.1070C>A	c.(1069-1071)TCC>TAC	p.S357Y	TANK_uc002ubs.2_Missense_Mutation_p.S357Y	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	357						cytosol	metal ion binding|protein binding			ovary(1)	1						TCACTCGATTCCCCGGGAAAA	0.428		NaN											1	0	7.22619e-39	0.01441	8.29016e-39	55	65				
KCNH7	90134	broad.mit.edu	37	2	163256815	163256815	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:163256815G>T	uc002uch.1	-	10	2503	c.2291C>A	c.(2290-2292)ACC>AAC	p.T764N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	764	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AGGTGCATGGGTGGTTTTGAA	0.458		NaN											1	0	5.32379e-58	0.01441	6.18353e-58	136	110				
SCN1A	6323	broad.mit.edu	37	2	166850696	166850696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:166850696C>T	uc010zcz.1	-	25	4797	c.4779G>A	c.(4777-4779)TGG>TGA	p.W1593*		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1604	IV.|Helical; Name=S3 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAAAAATATTCCATCCAATGG	0.323		NaN											0	0	0	0.001855	0	13	34				
LRP2	4036	broad.mit.edu	37	2	170063662	170063662	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:170063662C>G	uc002ues.2	-	39	6781	c.6568G>C	c.(6568-6570)GAC>CAC	p.D2190H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2190	LDL-receptor class B 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGCATGTCCACTGTGACT	0.428		NaN											0	0	0	0.01441	0	106	95				
MYO3B	140469	broad.mit.edu	37	2	171259362	171259362	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:171259362G>T	uc002ufy.2	+	19	2277	c.2134G>T	c.(2134-2136)GCA>TCA	p.A712S	MYO3B_uc002ufv.2_Missense_Mutation_p.A699S|MYO3B_uc010fqb.1_Missense_Mutation_p.A699S|MYO3B_uc002ufz.2_Missense_Mutation_p.A712S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	712	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						ATGCAGTAGTGCAGGAGGTGG	0.428		NaN											1	0	4.54149e-19	0.014323	4.96642e-19	21	107				
FKBP7	51661	broad.mit.edu	37	2	179343041	179343041	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179343041G>T	uc002umk.2	-	1	315	c.186C>A	c.(184-186)GGC>GGA	p.G62G	FKBP7_uc002umm.2_Silent_p.G62G|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Silent_p.G58G|PLEKHA3_uc002umn.2_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	62	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TAGCCAGGTAGCCGTCATAAT	0.498		NaN											1	0	1.99505e-19	0.012213	2.18812e-19	33	108				
TTN	7273	broad.mit.edu	37	2	179617850	179617850	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179617850C>A	uc010zfg.1	-	45	10584	c.10360_splice	c.e45+1	p.A3454_splice	TTN_uc010zfh.1_Splice_Site_p.E3600_splice|TTN_uc010zfi.1_Splice_Site_p.E3533_splice|TTN_uc010zfj.1_Splice_Site_p.E3408_splice|TTN_uc002umz.1_Splice_Site_p.A115_splice|TTN_uc002unb.2_Splice_Site_p.E3454_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAACAATACCTTTCATTTC	0.294		NaN											1	0	1.23904e-05	0.000602	1.28011e-05	5	12				
BMPR2	659	broad.mit.edu	37	2	203420682	203420682	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:203420682C>T	uc002uzf.3	+	12	3442	c.2294C>T	c.(2293-2295)TCA>TTA	p.S765L	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	765	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ACCAAAAATTCAACAAAAGAG	0.428		NaN											0	0	0	0.00278	0	23	80				
ZDBF2	57683	broad.mit.edu	37	2	207172029	207172029	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:207172029C>T	uc002vbp.2	+	5	3027	c.2777C>T	c.(2776-2778)TCA>TTA	p.S926L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	926							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTTTTCATTCAGTGACTGGA	0.318		NaN											0	0	0	0.00499	0	18	40				
ERBB4	2066	broad.mit.edu	37	2	212285209	212285209	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:212285209G>A	uc002veg.1	-	25	3190	c.3092C>T	c.(3091-3093)CCA>CTA	p.P1031L	ERBB4_uc002veh.1_Missense_Mutation_p.P1031L|ERBB4_uc010zji.1_Missense_Mutation_p.P1021L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1021L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1031	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GATGGGAGGTGGGATGTTGAA	0.373		NaN								TSP Lung(8;0.080)			0	0	0	0.009096	0	4	70				
ATG9A	79065	broad.mit.edu	37	2	220089301	220089301	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220089301G>C	uc002vke.1	-	8	978	c.792C>G	c.(790-792)CTC>CTG	p.L264L	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L264L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	264	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATTCATTGAGAAACAGAG	0.582		NaN											0	0	0	0.00499	0	15	42				
DNPEP	23549	broad.mit.edu	37	2	220251131	220251131	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220251131C>T	uc010zlg.1	-	5	442	c.360G>A	c.(358-360)GTG>GTA	p.V120V	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.V112V|DNPEP_uc002vlf.1_Silent_p.V98V|DNPEP_uc002vlh.2_Silent_p.V59V|DNPEP_uc002vli.1_Silent_p.V59V|DNPEP_uc002vlj.2_Silent_p.V102V|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	102					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCGACGTTTCACCTGAGTGT	0.517		NaN											0	0	0	0.00333	0	23	80				
DNER	92737	broad.mit.edu	37	2	230377518	230377518	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:230377518G>A	uc002vpv.2	-	6	1275	c.1128C>T	c.(1126-1128)TTC>TTT	p.F376F	DNER_uc010zly.1_Silent_p.F104F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	376	Extracellular (Potential).|EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAACACAGGTGAAATTGCTCC	0.398		NaN											0	0	0	0.01441	0	89	72				
SNED1	25992	broad.mit.edu	37	2	242027796	242027796	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:242027796C>G	uc002wah.1	+	31	4222	c.4222C>G	c.(4222-4224)CAG>GAG	p.Q1408E	SNED1_uc002waj.1_Missense_Mutation_p.Q434E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1408					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AAGTAAGAGTCAGACACTGGA	0.512		NaN											0	0	0	0.001168	0	5	92				
ISM1	140862	broad.mit.edu	37	20	13251266	13251266	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:13251266G>T	uc010gce.1	+	2	260	c.254G>T	c.(253-255)CGA>CTA	p.R85L	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	85						extracellular region					0						CCCAGACCGCGATTCCGACAA	0.507		NaN											1	0	0.004672	0.004672	0.00474817	3	50				
KIF16B	55614	broad.mit.edu	37	20	16359942	16359942	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:16359942A>C	uc002wpg.1	-	19	2863	c.2705T>G	c.(2704-2706)CTG>CGG	p.L902R	KIF16B_uc002wpe.1_Missense_Mutation_p.L284R|KIF16B_uc002wpf.1_Missense_Mutation_p.L284R|KIF16B_uc010gch.1_Missense_Mutation_p.L902R|KIF16B_uc010gci.1_Missense_Mutation_p.L902R|KIF16B_uc010gcj.1_Missense_Mutation_p.L913R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	902	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTATATTGCAGCCTGTACTC	0.433		NaN											0	0	0	0.01441	0	83	70				
CSRP2BP	57325	broad.mit.edu	37	20	18142726	18142726	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:18142726G>C	uc002wqj.2	+	6	1567	c.945G>C	c.(943-945)TTG>TTC	p.L315F	CSRP2BP_uc002wqk.2_Missense_Mutation_p.L187F|CSRP2BP_uc010zru.1_Missense_Mutation_p.L186F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	315					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TTTCCTCCTTGAGCTCCTCTG	0.527		NaN											0	0	0	0.01441	0	101	230				
ITCH	83737	broad.mit.edu	37	20	33067581	33067581	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:33067581G>A	uc010geu.1	+	19	2120	c.1928G>A	c.(1927-1929)AGA>AAA	p.R643K	ITCH_uc002xak.2_Missense_Mutation_p.R602K|ITCH_uc010zuj.1_Missense_Mutation_p.R492K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	643	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TTTATTGGCAGATTTATTGCC	0.368		NaN											0	0	0	0.005524	0	38	30				
CEBPB	1051	broad.mit.edu	37	20	48808576	48808576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:48808576G>T	uc002xvi.1	+	1	1201	c.1006G>T	c.(1006-1008)GAG>TAG	p.E336*	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	336					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GCAGCTGCCCGAGCCCCTGCT	0.488		NaN											1	0	3.59834e-05	0.001168	3.70738e-05	6	8				
ZNF217	7764	broad.mit.edu	37	20	52199284	52199284	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:52199284G>C	uc002xwq.3	-	1	353	c.82C>G	c.(82-84)CTT>GTT	p.L28V	ZNF217_uc010gij.1_Missense_Mutation_p.L20V	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	28					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGACTGCCAAGAGAGCTGCCA	0.458		NaN											0	0	0	0.00874	0	41	55				
C20orf106	200232	broad.mit.edu	37	20	55101119	55101119	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:55101119C>G	uc002xxx.2	+	2	589	c.509C>G	c.(508-510)TCT>TGT	p.S170C	GCNT7_uc010zzg.1_5'Flank|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	170	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			GAAGAAAGCTCTAGCTGAATG	0.408		NaN											0	0	0	0.004656	0	25	50				
TPTE	7179	broad.mit.edu	37	21	10942758	10942758	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:10942758C>T	uc002yip.1	-	13	1051	c.683G>A	c.(682-684)AGG>AAG	p.R228K	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R210K|TPTE_uc002yir.1_Missense_Mutation_p.R190K|TPTE_uc010gkv.1_Missense_Mutation_p.R90K	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	228	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I228V(1)		ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTATCGCCTTTTGTTTTC	0.328		NaN											0	0	0	0.01441	0	90	510				
UBASH3A	53347	broad.mit.edu	37	21	43867194	43867194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:43867194G>T	uc002zbe.2	+	15	1912	c.1876G>T	c.(1876-1878)GAA>TAA	p.E626*	UBASH3A_uc002zbf.2_Nonsense_Mutation_p.E588*|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.V515V	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	626	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						GTGCTTCTGTGAAGAAAATAA	0.463		NaN											1	0	1.02487e-32	0.01441	1.16152e-32	69	167				
PRAME	23532	broad.mit.edu	37	22	22892514	22892514	+	Missense_Mutation	SNP	A	A	G	rs140739353	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:22892514A>G	uc002zwf.2	-	4	743	c.587T>C	c.(586-588)ATT>ACT	p.I196T	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.I180T|PRAME_uc010gtr.2_Missense_Mutation_p.I196T|PRAME_uc002zwg.2_Missense_Mutation_p.I196T|PRAME_uc002zwh.2_Missense_Mutation_p.I196T|PRAME_uc002zwi.2_Missense_Mutation_p.I196T|PRAME_uc002zwj.2_Missense_Mutation_p.I196T|PRAME_uc002zwk.2_Missense_Mutation_p.I196T	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CACTTTCTCAATGAGGTAGGA	0.458		NaN											0	0	0	0.01441	0	57	85				
EP300	2033	broad.mit.edu	37	22	41553350	41553350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:41553350G>T	uc003azl.3	+	18	3834	c.3439G>T	c.(3439-3441)GAG>TAG	p.E1147*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1147					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAAGCTCTCTGAGGTCTTTGA	0.403		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.23713e-20	0.01441	1.36486e-20	48	53		Valid		
TTLL3	26140	broad.mit.edu	37	3	9862298	9862298	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:9862298C>G	uc003btg.2	+	7	814	c.598C>G	c.(598-600)CTG>GTG	p.L200V	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.L167V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.L136V|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.L136V|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	200	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					GGATGAAGCTCTGTGTGCGTG	0.582		NaN											0	0	0	0.01441	0	66	202				
PPARG	5468	broad.mit.edu	37	3	12447409	12447409	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:12447409C>A	uc003bwx.2	+	5	739	c.648C>A	c.(646-648)GCC>GCA	p.A216A	PPARG_uc003bwr.2_Silent_p.A188A|PPARG_uc003bws.2_Silent_p.A188A|PPARG_uc003bwu.2_Silent_p.A188A|PPARG_uc003bwv.2_Silent_p.A188A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A188A|PPARG_uc003bwt.1_Silent_p.A188A|PPARG_uc003bww.1_Silent_p.A216A	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	216	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGCCACAGGCCGAGAAGGAGA	0.517		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						1	0	2.98393e-07	0.00278	3.11729e-07	22	120				
FBLN2	2199	broad.mit.edu	37	3	13660497	13660497	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:13660497C>T	uc011avb.1	+	7	2158	c.2033C>T	c.(2032-2034)CCG>CTG	p.P678L	FBLN2_uc011auz.1_Missense_Mutation_p.P704L|FBLN2_uc011ava.1_Missense_Mutation_p.P678L|FBLN2_uc011avc.1_Missense_Mutation_p.P678L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	678						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCACTGCCGCAGCCCAAT	0.622		NaN											0	0	0	0.001984	0	7	19				
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:21552450C>T	uc003cce.2	-	4	750	c.342G>A	c.(340-342)ATG>ATA	p.M114I	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GCTTATTTTTCATGGCTTCCA	0.463		NaN											0	0	0	0.01441	0	72	75				
XYLB	9942	broad.mit.edu	37	3	38401846	38401846	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:38401846C>G	uc003cic.2	+	3	266	c.157C>G	c.(157-159)CAT>GAT	p.H53D	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	53					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGTGGTGTTCATGTGCACAA	0.532		NaN											0	0	0	0.01441	0	93	96				
ZNF662	389114	broad.mit.edu	37	3	42954704	42954704	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:42954704C>G	uc003cmi.2	+	4	515	c.163C>G	c.(163-165)CTA>GTA	p.L55V	ZNF662_uc003cmk.2_Intron|ZNF662_uc003cmj.2_Intron	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ATATCCATTTCTAAAGCCTGC	0.498		NaN											0	0	0	0.004007	0	16	56				
CCR5	1234	broad.mit.edu	37	3	46415295	46415295	+	Missense_Mutation	SNP	G	G	A	rs1800943		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:46415295G>A	uc003cpo.3	+	3	1024	c.902G>A	c.(901-903)GGG>GAG	p.G301E	CCR5_uc010hjd.2_Missense_Mutation_p.G301E	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	301	Helical; Name=7; (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCCTTTGTCGGGGAGAAGTTC	0.483		NaN											0	0	0	0.01441	0	293	290				
NBEAL2	23218	broad.mit.edu	37	3	47040469	47040469	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:47040469G>A	uc003cqp.2	+	24	3584	c.3405G>A	c.(3403-3405)CTG>CTA	p.L1135L	NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1135	Leu-rich.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCTGGACCTGCTGCTGGCCC	0.667		NaN									OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	16				
BSN	8927	broad.mit.edu	37	3	49692495	49692495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:49692495G>T	uc003cxe.3	+	5	5620	c.5506G>T	c.(5506-5508)GAG>TAG	p.E1836*		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1836					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGTGCCAGAGCCAGGTGC	0.622		NaN											1	0	7.11191e-15	0.013726	7.70972e-15	33	114				
DOCK3	1795	broad.mit.edu	37	3	51264853	51264853	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51264853G>A	uc011bds.1	+	16	1540	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	506	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCACCTGCGCTTTGAGTTC	0.468		NaN											0	0	0	0.01441	0	82	103				
RAD54L2	23132	broad.mit.edu	37	3	51673632	51673632	+	Silent	SNP	C	C	T	rs139263625	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51673632C>T	uc011bdt.1	+	12	2183	c.2058C>T	c.(2056-2058)GGC>GGT	p.G686G	RAD54L2_uc003dbh.2_Silent_p.G277G|RAD54L2_uc011bdu.1_Silent_p.G380G|RAD54L2_uc003dbj.2_Silent_p.G12G	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	686						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCTACAGGGCGTTGGCTTCA	0.517		NaN											0	0	0	0.006214	0	8	41				
FLNB	2317	broad.mit.edu	37	3	58095302	58095302	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:58095302G>A	uc003djj.2	+	15	2365	c.2200_splice	c.e15-1	p.V734_splice	FLNB_uc010hne.2_Splice_Site_p.V734_splice|FLNB_uc003djk.2_Splice_Site_p.V734_splice|FLNB_uc010hnf.2_Splice_Site_p.V734_splice|FLNB_uc003djl.2_Splice_Site_p.V565_splice|FLNB_uc003djm.2_Splice_Site_p.V565_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCTTCTCTAGGTCAACATCG	0.458		NaN											0	0	0	0.01441	0	74	90				
ROBO2	6092	broad.mit.edu	37	3	77637928	77637928	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:77637928G>C	uc003dpy.3	+	17	3170	c.2527G>C	c.(2527-2529)GAA>CAA	p.E843Q	ROBO2_uc003dpz.2_Missense_Mutation_p.E847Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E847Q|ROBO2_uc003dqa.2_5'UTR	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	843	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTCATTACTGAAAACAATAA	0.373		NaN											0	0	0	0.009718	0	45	57				
IMPG2	50939	broad.mit.edu	37	3	100962599	100962599	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:100962599T>C	uc003duq.1	-	13	2779	c.2576A>G	c.(2575-2577)AAT>AGT	p.N859S	IMPG2_uc011bhe.1_Missense_Mutation_p.N722S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	859	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AACCTTGCCATTTTGCTCTTG	0.448		NaN											0	0	0	0.01441	0	51	90				
BBX	56987	broad.mit.edu	37	3	107435578	107435578	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:107435578C>T	uc010hpr.2	+	5	614	c.287C>T	c.(286-288)TCT>TTT	p.S96F	BBX_uc003dwk.3_Missense_Mutation_p.S96F|BBX_uc003dwl.3_Missense_Mutation_p.S96F|BBX_uc010hps.1_Missense_Mutation_p.S117F|BBX_uc003dwm.3_Missense_Mutation_p.S96F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	96	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGCCATCGCTCTCTTGTACGT	0.463		NaN											0	0	0	0.01441	0	111	68				
PHLDB2	90102	broad.mit.edu	37	3	111664202	111664202	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:111664202G>C	uc010hqa.2	+	9	2896	c.2485G>C	c.(2485-2487)GAG>CAG	p.E829Q	PHLDB2_uc003dyc.2_Missense_Mutation_p.E813Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.E829Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.E415Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	829						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TACTTTAAAAGAGGTAAGCTA	0.348		NaN											0	0	0	0.007291	0	27	20				
GTPBP8	29083	broad.mit.edu	37	3	112710056	112710056	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:112710056C>T	uc003dzn.2	+	1	257	c.210C>T	c.(208-210)ATC>ATT	p.I70I	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Silent_p.I70I	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	70					barrier septum formation		GTP binding				0						ACCTGCGTATCTTTGACCCAA	0.622		NaN											0	0	0	0.004656	0	25	48				
PLA1A	51365	broad.mit.edu	37	3	119344030	119344030	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119344030G>A	uc003ecu.2	+	9	1111	c.1072G>A	c.(1072-1074)GAG>AAG	p.E358K	PLA1A_uc003ecv.2_Missense_Mutation_p.E342K|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.E185K	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	358					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CACCAACATCGAGGTTACCTT	0.448		NaN											0	0	0	0.01441	0	51	27				
C3orf15	89876	broad.mit.edu	37	3	119456222	119456222	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456222G>C	uc003ede.3	+	11	1431	c.1354G>C	c.(1354-1356)GAT>CAT	p.D452H	C3orf15_uc010hqy.1_Missense_Mutation_p.D452H|C3orf15_uc010hqz.2_Missense_Mutation_p.D390H|C3orf15_uc011bjd.1_Missense_Mutation_p.D326H|C3orf15_uc011bje.1_Missense_Mutation_p.D432H|C3orf15_uc010hra.1_Missense_Mutation_p.D213H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GGCACTGTTGGATAAGAAGAA	0.279		NaN											0	0	0	0.010504	0	21	68				
C3orf15	89876	broad.mit.edu	37	3	119456227	119456227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456227G>A	uc003ede.3	+	11	1436	c.1359G>A	c.(1357-1359)AAG>AAA	p.K453K	C3orf15_uc010hqy.1_Silent_p.K453K|C3orf15_uc010hqz.2_Silent_p.K391K|C3orf15_uc011bjd.1_Silent_p.K327K|C3orf15_uc011bje.1_Silent_p.K433K|C3orf15_uc010hra.1_Silent_p.K214K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TGTTGGATAAGAAGAATAAAG	0.294		NaN											0	0	0	0.008871	0	20	69				
IQCJ	654502	broad.mit.edu	37	3	158983102	158983102	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:158983102C>T	uc003fcp.1	+	5	495	c.390C>T	c.(388-390)CTC>CTT	p.L130L	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.L103L	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	130											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGATTCTTCTCTACCTTGACC	0.512		NaN											0	0	0	0.01441	0	74	58				
IL1RAP	3556	broad.mit.edu	37	3	190366273	190366273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:190366273G>C	uc003fsm.1	+	12	1698	c.1492G>C	c.(1492-1494)GTC>CTC	p.V498L	IL1RAP_uc010hzg.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	498	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CAACATCAACGTCATTTTAGT	0.502		NaN											0	0	0	0.01441	0	59	139				
MFI2	4241	broad.mit.edu	37	3	196753550	196753550	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:196753550C>T	uc003fxk.3	-	3	398	c.285G>A	c.(283-285)GTG>GTA	p.V95V	MFI2_uc003fxl.3_Silent_p.V95V|MFI2_uc011bua.1_Silent_p.V95V	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	95	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACACTTCGCCCACCACCGGCT	0.622		NaN											0	0	0	0.004007	0	16	77				
ZNF721	170960	broad.mit.edu	37	4	436965	436965	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:436965T>C	uc003gag.2	-	3	1982	c.1291A>G	c.(1291-1293)AAC>GAC	p.N431D	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.N463D|ZNF721_uc010ibe.2_Missense_Mutation_p.N419D	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	431						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TCATTCAGGTTTGTGGACAAT	0.373		NaN											0	0	0	0.001984	0	6	44				
FGFR3	2261	broad.mit.edu	37	4	1803738	1803738	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:1803738G>A	uc003gdr.3	+	7	1172	c.916G>A	c.(916-918)GTT>ATT	p.V306I	FGFR3_uc003gdu.2_Missense_Mutation_p.V306I|FGFR3_uc003gds.3_Missense_Mutation_p.V306I|FGFR3_uc003gdq.3_Missense_Mutation_p.V306I|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	306	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACACCCTACGTTACCGTGCT	0.667		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.000602	0	5	10		Valid		
ATP10D	57205	broad.mit.edu	37	4	47538788	47538788	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47538788A>G	uc003gxk.1	+	9	1393	c.1229A>G	c.(1228-1230)TAC>TGC	p.Y410C	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.Y395C	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	410	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTGGATTTCTACAATGAAAAA	0.398		NaN											0	0	0	0.00245	0	14	16				
ATP10D	57205	broad.mit.edu	37	4	47574247	47574247	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47574247G>A	uc003gxk.1	+	17	3404	c.3240G>A	c.(3238-3240)CAG>CAA	p.Q1080Q	ATP10D_uc003gxl.1_Silent_p.Q328Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1080	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						AAGGCATGCAGGTGAGTGGAT	0.498		NaN											0	0	0	0.008361	0	29	34				
GSX2	170825	broad.mit.edu	37	4	54968033	54968033	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:54968033G>A	uc010igp.1	+	2	1123	c.859G>A	c.(859-861)GAG>AAG	p.E287K	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	287						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTCCGAGGATGAGGACTCCCT	0.647		NaN											0	0	0	0.00632	0	29	20				
REST	5978	broad.mit.edu	37	4	57777573	57777573	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:57777573A>G	uc003hch.2	+	2	1116	c.769A>G	c.(769-771)ACA>GCA	p.T257A	REST_uc003hci.2_Missense_Mutation_p.T257A|REST_uc003hcj.1_Missense_Mutation_p.T257A|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	257	C2H2-type 3.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CACATACACAACAGTGAGCGA	0.383		NaN											0	0	0	0.010771	0	45	40				
LPHN3	23284	broad.mit.edu	37	4	62800707	62800707	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:62800707G>A	uc010ihh.2	+	11	2231	c.2058G>A	c.(2056-2058)AAG>AAA	p.K686K	LPHN3_uc003hcq.3_Silent_p.K686K|LPHN3_uc003hct.2_Silent_p.K79K|LPHN3_uc003hcs.1_Silent_p.K502K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	673	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ACCTTTTGAAGACTGACATTG	0.438		NaN											0	0	0	0.00499	0	15	24				
EPHA5	2044	broad.mit.edu	37	4	66356360	66356360	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:66356360C>A	uc003hcy.2	-	5	1330	c.1137G>T	c.(1135-1137)CCG>CCT	p.P379P	EPHA5_uc003hcx.2_Silent_p.P310P|EPHA5_uc003hcz.2_Silent_p.P379P|EPHA5_uc011cah.1_Silent_p.P379P|EPHA5_uc011cai.1_Silent_p.P379P|EPHA5_uc003hda.2_Silent_p.P379P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	379	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TGTCAGCAGGCGGAATCCATT	0.458		NaN								TSP Lung(17;0.13)			1	0	0.000274275	0.004482	0.00028027	9	47				
USO1	8615	broad.mit.edu	37	4	76721825	76721825	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:76721825G>C	uc003hiu.2	+	15	1912	c.1737G>C	c.(1735-1737)GAG>GAC	p.E579D	USO1_uc003hiv.2_Missense_Mutation_p.E421D|USO1_uc003hiw.2_Missense_Mutation_p.E414D	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	579	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTCATAGAGAAACTAGGAT	0.348		NaN											0	0	0	0.005524	0	38	25				
ANKRD56	345079	broad.mit.edu	37	4	77817830	77817830	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:77817830G>T	uc003hki.2	-	1	1173	c.1173C>A	c.(1171-1173)CTC>CTA	p.L391L		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	391											0						CCAGATCTTGGAGGGACAGCT	0.577		NaN											1	0	9.78306e-22	0.009535	1.08572e-21	30	113				
DSPP	1834	broad.mit.edu	37	4	88533799	88533799	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:88533799C>G	uc003hqu.2	+	4	581	c.461C>G	c.(460-462)ACT>AGT	p.T154S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	154					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGAAGCAACACTAATGGAAAT	0.438		NaN											0	0	0	0.010504	0	22	31				
CENPE	1062	broad.mit.edu	37	4	104044225	104044225	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:104044225C>G	uc003hxb.1	-	43	7036	c.6946G>C	c.(6946-6948)GAG>CAG	p.E2316Q	CENPE_uc003hxc.1_Missense_Mutation_p.E2195Q	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2316	Kinetochore-binding domain.|Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCAAACTCTGTTGATTCA	0.264		NaN											0	0	0	0.00623	0	38	36				
PDE5A	8654	broad.mit.edu	37	4	120517758	120517758	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:120517758A>C	uc003idh.2	-	3	906	c.751T>G	c.(751-753)TTC>GTC	p.F251V	PDE5A_uc003idf.2_Missense_Mutation_p.F209V|PDE5A_uc003idg.2_Missense_Mutation_p.F199V	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	251	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCTGCATTGAACCGAGGATCC	0.328		NaN											0	0	0	0.00245	0	14	29				
OTUD4	54726	broad.mit.edu	37	4	146058794	146058794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:146058794G>A	uc003ika.3	-	21	3076	c.2938C>T	c.(2938-2940)CAA>TAA	p.Q980*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.Q979*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	1044							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CCATAAGTTTGATTATAGAAC	0.408		NaN											0	0	0	0.01441	0	73	131				
ETFDH	2110	broad.mit.edu	37	4	159627494	159627494	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:159627494G>A	uc003iqb.2	+	11	1771	c.1439G>A	c.(1438-1440)GGA>GAA	p.G480E	ETFDH_uc011cjg.1_Missense_Mutation_p.G433E|ETFDH_uc010iqr.2_Missense_Mutation_p.G77E|ETFDH_uc011cjh.1_Missense_Mutation_p.G419E|ETFDH_uc010iqs.2_Missense_Mutation_p.G402E	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	480					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ATATTGAGAGGAATGGAGCCG	0.378		NaN											0	0	0	0.014323	0	22	30				
GLRA3	8001	broad.mit.edu	37	4	175749928	175749928	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:175749928G>A	uc003ity.1	-	1	538	c.35C>T	c.(34-36)TCG>TTG	p.S12L	GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	12					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTAAAATCCCGAAACTAATGT	0.458		NaN											0	0	0	0.010504	0	21	29				
C5orf42	65250	broad.mit.edu	37	5	37183592	37183592	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:37183592C>G	uc011cpa.1	-	26	4922	c.4691G>C	c.(4690-4692)AGA>ACA	p.R1564T	C5orf42_uc011coy.1_Missense_Mutation_p.R65T|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R639T|C5orf42_uc011cpb.1_Missense_Mutation_p.R445T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1564										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTAGGTCTCTTTCAAGAAT	0.323		NaN											0	0	0	0.008871	0	20	54				
SNX18	112574	broad.mit.edu	37	5	53815261	53815261	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:53815261C>T	uc003jpj.3	+	1	1669	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	SNX18_uc011cqg.1_Silent_p.I493I|SNX18_uc003jpi.3_Silent_p.I493I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	493	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACCAGGCTATCGCCTTCACCG	0.607		NaN											0	0	0	0.013726	0	34	56				
ADAMTS6	11174	broad.mit.edu	37	5	64629868	64629868	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64629868C>A	uc003jtp.2	-	8	1931	c.1117_splice	c.e8+1	p.G373_splice	ADAMTS6_uc003jto.2_Splice_Site|ADAMTS6_uc003jtq.2_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaaCTTACCCAGTGTTCC	0.244		NaN											1	0	0.00198382	0.001984	0.00202166	6	12				
C5orf44	80006	broad.mit.edu	37	5	64954221	64954221	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64954221G>C	uc003jtz.3	+	9	921	c.591G>C	c.(589-591)CAG>CAC	p.Q197H	C5orf44_uc003jua.3_Missense_Mutation_p.Q197H|C5orf44_uc003juc.3_Missense_Mutation_p.Q191H|C5orf44_uc010iwv.2_Missense_Mutation_p.Q191H	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	197										ovary(1)	1						TGGAAGCCCAGATTCAGAATA	0.353		NaN											0	0	0	0.001984	0	7	4				
TNPO1	3842	broad.mit.edu	37	5	72192882	72192882	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:72192882G>C	uc003kck.3	+	20	2390	c.2243_splice	c.e20-1	p.G748_splice	TNPO1_uc011csj.1_Splice_Site_p.G698_splice|TNPO1_uc003kch.2_Splice_Site_p.G740_splice|TNPO1_uc003kci.3_Splice_Site_p.G740_splice|TNPO1_uc003kcg.3_Splice_Site_p.G740_splice	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATGATCTCTAGGTATAGAGAT	0.343		NaN											0	0	0	0.00333	0	25	23				
GPR98	84059	broad.mit.edu	37	5	90055402	90055402	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:90055402G>A	uc003kju.2	+	58	12213	c.12117G>A	c.(12115-12117)AAG>AAA	p.K4039K	GPR98_uc003kjt.2_Silent_p.K1745K|GPR98_uc003kjv.2_Silent_p.K1639K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4039	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGAAAAGACTGTAAGTT	0.373		NaN											0	0	0	0.009096	0	4	8				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889343	139889343	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:139889343T>C	uc003lfs.1	+	21	4011	c.3887T>C	c.(3886-3888)TTA>TCA	p.L1296S	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1315S|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1296S|ANKHD1_uc003lft.1_Missense_Mutation_p.L507S|ANKHD1_uc003lfu.1_Missense_Mutation_p.L776S|ANKHD1_uc003lfv.1_Missense_Mutation_p.L373S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L35S|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1296						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATACTGCTTTAACAATAGCA	0.408		NaN											0	0	0	0.005443	0	27	26				
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140481673A>G	uc003lio.2	+	1	1440	c.1440A>G	c.(1438-1440)TCA>TCG	p.S480S	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	480	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647		NaN											0	0	0	0.01441	0	69	105				
PCDHB5	26167	broad.mit.edu	37	5	140516673	140516673	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140516673G>A	uc003liq.2	+	1	1874	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	553	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.716		NaN											0	0	0	0.00278	0	23	56				
KIAA0141	9812	broad.mit.edu	37	5	141309811	141309811	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:141309811C>T	uc003lls.2	+	7	848	c.726C>T	c.(724-726)CTC>CTT	p.L242L	KIAA0141_uc003llt.2_Silent_p.L242L	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	242	TPR 1.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCAGCTCAGTGTTTCCA	0.473		NaN											0	0	0	0.001855	0	11	24				
ADRB2	154	broad.mit.edu	37	5	148207103	148207103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:148207103G>C	uc003lpr.1	+	1	948	c.709G>C	c.(709-711)GAG>CAG	p.E237Q	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	237	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGACAAATCTGAGGGCCGCTT	0.547		NaN											0	0	0	0.001168	0	6	100				
GABRG2	2566	broad.mit.edu	37	5	161580368	161580368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:161580368C>A	uc003lyz.3	+	9	1756	c.1398C>A	c.(1396-1398)TAC>TAA	p.Y466*	GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y514*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y474*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y371*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	466	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTACCTCTACCTGTGAGGAG	0.443		NaN											1	0	1.07363e-35	0.01441	1.2242e-35	74	114				
CLK4	57396	broad.mit.edu	37	5	178050303	178050303	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:178050303C>T	uc003mjf.1	-	2	223	c.115G>A	c.(115-117)GAG>AAG	p.E39K	CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E39K|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.E39K|CLK4_uc011dgj.1_Missense_Mutation_p.E39K|CLK4_uc003mji.2_Missense_Mutation_p.E39K|CLK4_uc010jkw.1_Missense_Mutation_p.E39K	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	39						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGCCTGTTCTCTTGTGTGCTA	0.388		NaN											0	0	0	0.01441	0	55	53				
GMDS	2762	broad.mit.edu	37	6	1624454	1624454	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:1624454C>T	uc003mtq.2	-	11	1259	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	357					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACCATCTCCCTCACCAGC	0.677		NaN											0	0	0	0.007413	0	17	15				
HIST1H2BI	8346	broad.mit.edu	37	6	26273579	26273579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:26273579A>T	uc003nhk.2	+	1	376	c.376A>T	c.(376-378)AAG>TAG	p.K126*	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	126					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CACCAGCTCCAAGTAAACTAG	0.537		NaN											0	0	0	0.004656	0	27	31				
LY6G6F	259215	broad.mit.edu	37	6	31675751	31675751	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:31675751G>A	uc003nwa.1	+	3	486	c.486G>A	c.(484-486)GGG>GGA	p.G162G	BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Silent_p.G162G	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	162	Extracellular (Potential).					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GGCAGGAAGGGAAGGGTCCCG	0.627		NaN											0	0	0	0.01441	0	51	79				
PSMB8	5696	broad.mit.edu	37	6	32809989	32809989	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:32809989C>A	uc003oce.2	-	4	502	c.459G>T	c.(457-459)AAG>AAT	p.K153N	PSMB8_uc003ocf.2_Missense_Mutation_p.K149N|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	153					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						TGGACAGCAGCTTGGAGGCTG	0.522		NaN											1	0	2.56175e-15	0.01441	2.78515e-15	48	47				
ZBTB9	221504	broad.mit.edu	37	6	33424237	33424237	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:33424237C>G	uc003oeq.2	+	2	1628	c.1360C>G	c.(1360-1362)CTC>GTC	p.L454V		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	454	C2H2-type 2; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCCTGTTTTCTCCGCCACCG	0.572		NaN											0	0	0	0.01441	0	65	54				
DAAM2	23500	broad.mit.edu	37	6	39847178	39847178	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:39847178C>T	uc003oow.2	+	14	1926	c.1770C>T	c.(1768-1770)GAC>GAT	p.D590D	DAAM2_uc010jxc.2_Silent_p.D590D|DAAM2_uc003oox.2_Silent_p.D590D	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	590	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.597		NaN											0	0	0	0.010818	0	32	39				
GNMT	27232	broad.mit.edu	37	6	42930028	42930028	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:42930028A>G	uc003otd.2	+	2	291	c.285A>G	c.(283-285)GCA>GCG	p.A95A	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	95					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGAAGTATGCACTTAAGGAGC	0.592		NaN											0	0	0	0.00632	0	29	50				
PKHD1	5314	broad.mit.edu	37	6	51887631	51887631	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:51887631G>A	uc003pah.1	-	33	5624	c.5348C>T	c.(5347-5349)TCT>TTT	p.S1783F	PKHD1_uc003pai.2_Missense_Mutation_p.S1783F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1783	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCTGAAGGCAGACACTGTAGC	0.473		NaN											0	0	0	0.005524	0	38	40				
KHDC1	80759	broad.mit.edu	37	6	73951907	73951907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:73951907G>A	uc003pgo.2	-	4	886	c.385C>T	c.(385-387)CAG>TAG	p.Q129*	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Nonsense_Mutation_p.Q56*	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	129	KH; atypical.					integral to membrane	RNA binding			skin(1)	1						CTCTCCAGCTGAATAAGGGTG	0.547		NaN											0	0	0	0.010729	0	11	58				
BACH2	60468	broad.mit.edu	37	6	90642597	90642597	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:90642597C>G	uc011eab.1	-	9	2865	c.2056G>C	c.(2056-2058)GAG>CAG	p.E686Q	BACH2_uc003pnw.2_Missense_Mutation_p.E686Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	686	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AACAGTTTCTCTTTCTCACAC	0.473		NaN											0	0	0	0.00874	0	43	33				
RTN4IP1	84816	broad.mit.edu	37	6	107040127	107040127	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:107040127C>A	uc003prj.2	-	6	1195	c.718G>T	c.(718-720)GCC>TCC	p.A240S	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A140S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	240						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTTCACTGGCATCTTGGGAG	0.398		NaN											1	0	1.86277e-20	0.01441	2.04905e-20	56	47				
ROS1	6098	broad.mit.edu	37	6	117683989	117683989	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:117683989G>C	uc003pxp.1	-	21	3357	c.3158C>G	c.(3157-3159)CCA>CGA	p.P1053R	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1053	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCCACTTGGTAATATAAA	0.348		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.013537	0	13	55				
C6orf174	387104	broad.mit.edu	37	6	127796661	127796661	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:127796661C>G	uc003qbd.2	-	6	3375	c.2510G>C	c.(2509-2511)AGC>ACC	p.S837T	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	837						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GATGATGGTGCTCGTGTCGGC	0.662		NaN											0	0	0	0.01441	0	55	148				
SAMD3	154075	broad.mit.edu	37	6	130535635	130535635	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:130535635T>C	uc003qbv.2	-	5	442	c.116A>G	c.(115-117)AAT>AGT	p.N39S	SAMD3_uc003qbx.2_Missense_Mutation_p.N39S|SAMD3_uc003qbw.2_Missense_Mutation_p.N39S|SAMD3_uc010kfg.1_Missense_Mutation_p.N39S|SAMD3_uc003qby.2_Missense_Mutation_p.N39S|SAMD3_uc003qbz.1_5'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	39	SAM.									ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCCGATCATTAAGTGCAAG	0.408		NaN											0	0	0	0.01441	0	60	58				
SMOC2	64094	broad.mit.edu	37	6	169064760	169064760	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:169064760G>A	uc003qws.1	+	12	1312	c.1292G>A	c.(1291-1293)AGA>AAA	p.R431K	SMOC2_uc003qwr.1_Missense_Mutation_p.R442K|SMOC2_uc011egu.1_Missense_Mutation_p.R108K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	431					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTAGCCCCCAGAGGTCATGCT	0.299		NaN											0	0	0	0.010729	0	10	73				
INTS1	26173	broad.mit.edu	37	7	1524940	1524940	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:1524940G>C	uc003skn.2	-	23	3243	c.3142C>G	c.(3142-3144)CTG>GTG	p.L1048V	INTS1_uc003skp.1_Missense_Mutation_p.L395V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1048					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGGGCCAGGGCTGTGGTG	0.687		NaN											0	0	0	0.00245	0	14	89				
NXPH1	30010	broad.mit.edu	37	7	8791209	8791209	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:8791209T>C	uc003srv.2	+	3	1537	c.626T>C	c.(625-627)CTC>CCC	p.L209P	NXPH1_uc011jxh.1_Missense_Mutation_p.L92P	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	209	V (Cys-rich).					extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAGAACACACTCTGCAACTAT	0.413		NaN											0	0	0	0.008291	0	10	72				
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:43484767G>A	uc003tid.1	+	11	2601	c.1996G>A	c.(1996-1998)GGG>AGG	p.G666R	HECW1_uc011kbi.1_Missense_Mutation_p.G666R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	666					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CAGGCAAGGCGGGGACCACAG	0.692		NaN											0	0	0	0.001855	0	10	78				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:72413896A>G	uc003twk.2	+	11	3364	c.3364A>G	c.(3364-3366)ACC>GCC	p.T1122A	POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637		NaN											0	0	0	0.001168	0	5	72				
SEMA3E	9723	broad.mit.edu	37	7	83035312	83035312	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:83035312C>T	uc003uhy.1	-	8	1343	c.877G>A	c.(877-879)GTT>ATT	p.V293I		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	293	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				ACTGAGCAAACGAGTCTCGCT	0.348		NaN											0	0	0	0.01441	0	63	78				
ZNF804B	219578	broad.mit.edu	37	7	88963539	88963539	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:88963539G>C	uc011khi.1	+	4	1781	c.1243G>C	c.(1243-1245)GAT>CAT	p.D415H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	415						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCTTTAGATAAAACAGA	0.368		NaN								HNSCC(36;0.09)			0	0	0	0.004482	0	9	94				
SRRT	51593	broad.mit.edu	37	7	100485476	100485476	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:100485476C>T	uc003uwy.2	+	18	2590	c.2322C>T	c.(2320-2322)GCC>GCT	p.A774A	SRRT_uc010lhl.1_Silent_p.A773A|SRRT_uc003uxa.2_Silent_p.A773A|SRRT_uc003uwz.2_Silent_p.A774A	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	774	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						CTGGCCCCGCCCAGAGTAAGA	0.532		NaN											0	0	0	0.000602	0	5	150				
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:116960744G>A	uc003viz.2	-	2	487	c.187C>T	c.(187-189)CGT>TGT	p.R63C	WNT2_uc003vja.2_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607		NaN											0	0	0	0.013726	0	35	6				
OPN1SW	611	broad.mit.edu	37	7	128415628	128415628	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128415628G>C	uc003vnt.3	-	1	217	c.217C>G	c.(217-219)CTG>GTG	p.L73V		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	73	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						ACGTTGACCAGAATGTAGTTG	0.537		NaN											0	0	0	0.01441	0	174	41				
FLNC	2318	broad.mit.edu	37	7	128481267	128481267	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128481267C>A	uc003vnz.3	+	12	2066	c.1857C>A	c.(1855-1857)GAC>GAA	p.D619E	FLNC_uc003voa.3_Missense_Mutation_p.D619E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	619	Filamin 4.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGAATGTGACGACAAGGGGG	0.627		NaN											1	0	2.48551e-13	0.00499	2.66355e-13	15	191				
C7orf33	202865	broad.mit.edu	37	7	148288208	148288208	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:148288208C>A	uc003wew.2	+	1	552	c.191C>A	c.(190-192)ACG>AAG	p.T64K		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	64										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATATGCCACGGGAAGACAT	0.473		NaN											1	0	5.77035e-48	0.01441	6.66083e-48	101	27				
MSR1	4481	broad.mit.edu	37	8	15978045	15978045	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:15978045G>T	uc003wwz.2	-	9	1302	c.1104C>A	c.(1102-1104)AGC>AGA	p.S368R	MSR1_uc010lsu.2_Missense_Mutation_p.S386R|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	368	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCACTGGCCGCTGTGGAGTA	0.517		NaN											1	0	1.61004e-24	0.01441	1.79213e-24	49	10				
KCNU1	157855	broad.mit.edu	37	8	36693884	36693884	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:36693884G>A	uc010lvw.2	+	13	1452	c.1365_splice	c.e13+1	p.K455_splice	KCNU1_uc003xjw.2_Splice_Site	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATAACAAGGTATAGTAACA	0.333		NaN											0	0	0	0.004672	0	3	21				
ZFHX4	79776	broad.mit.edu	37	8	77763532	77763532	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:77763532C>T	uc003yav.2	+	10	4627	c.4240C>T	c.(4240-4242)CTA>TTA	p.L1414L	ZFHX4_uc003yau.1_Silent_p.L1459L|ZFHX4_uc003yaw.1_Silent_p.L1414L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1414						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTCAACAGCTATATGCCTC	0.493		NaN								HNSCC(33;0.089)			0	0	0	0.001855	0	13	38				
VPS13B	157680	broad.mit.edu	37	8	100443874	100443874	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:100443874G>A	uc003yiv.2	+	22	3303	c.3192G>A	c.(3190-3192)GTG>GTA	p.V1064V	VPS13B_uc003yiw.2_Silent_p.V1064V|VPS13B_uc003yiu.1_Silent_p.V1064V|VPS13B_uc003yix.1_Silent_p.V534V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1064					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATGCAGTGAAGCATCTCA	0.308		NaN											0	0	0	0.00499	0	18	54				
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:110457235G>A	uc003yne.2	+	38	5241	c.5137G>A	c.(5137-5139)GAA>AAA	p.E1713K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1713	IPT/TIG 9.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTGAATGTGAAACATCCCC	0.443		NaN								HNSCC(38;0.096)			0	0	0	0.006214	0	9	283				
CSMD3	114788	broad.mit.edu	37	8	114327003	114327003	+	Silent	SNP	A	A	T	rs148820468		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:114327003A>T	uc003ynu.2	-	2	357	c.198T>A	c.(196-198)GGT>GGA	p.G66G	CSMD3_uc003ynt.2_Silent_p.G26G|CSMD3_uc011lhx.1_Silent_p.G66G|CSMD3_uc010mcx.1_Silent_p.G66G|CSMD3_uc003ynx.3_Silent_p.G66G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	66	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTAAAGTTCCACCACATGTAT	0.313		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.00632	0	29	63				
FAM84B	157638	broad.mit.edu	37	8	127569335	127569335	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:127569335G>C	uc003yrz.1	-	2	584	c.300C>G	c.(298-300)GGC>GGG	p.G100G		NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	100						cytoplasm|plasma membrane	protein binding				0	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGCCGCCGAGCCCGGCGCGA	0.657		NaN											0	0	0	0.01441	0	48	21				
PLEC	5339	broad.mit.edu	37	8	144992886	144992886	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:144992886C>G	uc003zaf.1	-	32	11684	c.11514G>C	c.(11512-11514)AGG>AGC	p.R3838S	PLEC_uc003zab.1_Missense_Mutation_p.R3701S|PLEC_uc003zac.1_Missense_Mutation_p.R3705S|PLEC_uc003zad.2_Missense_Mutation_p.R3701S|PLEC_uc003zae.1_Missense_Mutation_p.R3669S|PLEC_uc003zag.1_Missense_Mutation_p.R3679S|PLEC_uc003zah.2_Missense_Mutation_p.R3687S|PLEC_uc003zaj.2_Missense_Mutation_p.R3728S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3838	Globular 2.|Plectin 17.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCAGTGTCTGCCTGGAACCGG	0.662		NaN											0	0	0	0.014323	0	22	88				
GPT	2875	broad.mit.edu	37	8	145731256	145731256	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:145731256C>T	uc011lli.1	+	7	922	c.765C>T	c.(763-765)ATC>ATT	p.I255I	GPT_uc011llj.1_Silent_p.I255I|GPT_uc003zdh.3_Silent_p.I255I	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	255					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCGAGTGCATCGAGGCCGTGA	0.736		NaN											0	0	0	0.001168	0	5	12				
DMRT2	10655	broad.mit.edu	37	9	1056399	1056399	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:1056399C>G	uc003zha.2	+	4	1012	c.812C>G	c.(811-813)CCC>CGC	p.P271R	DMRT2_uc003zgx.3_Missense_Mutation_p.P38R|DMRT2_uc010mgz.2_Missense_Mutation_p.P38R|DMRT2_uc003zgy.3_Missense_Mutation_p.P115R|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P271R	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	271					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTTTCTGCCCAACCGCATG	0.473		NaN											0	0	0	0.010504	0	21	154				
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:2104016C>T	uc003zhc.2	+	23	3238	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1047					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.408		NaN											0	0	0	0.01441	0	120	93		Valid		
C9orf123	90871	broad.mit.edu	37	9	7798477	7798477	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:7798477C>T	uc003zki.2	-	2	393	c.349G>A	c.(349-351)GTA>ATA	p.V117I	C9orf123_uc003zkj.2_3'UTR			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	Error:Variant_position_missing_in_Q96GE9_after_alignment						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		TGTCCATGTACAAGTGTCTGT	0.443		NaN											0	0	0	0.00245	0	15	29				
TAF1L	138474	broad.mit.edu	37	9	32634258	32634258	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:32634258G>C	uc003zrg.1	-	1	1410	c.1320C>G	c.(1318-1320)ATC>ATG	p.I440M	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	440					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTGTGTTTGATATCCTCCC	0.468		NaN											0	0	0	0.01441	0	213	143				
ANKS6	203286	broad.mit.edu	37	9	101536318	101536318	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:101536318C>T	uc004ayu.2	-	9	1683	c.1662G>A	c.(1660-1662)CTG>CTA	p.L554L	ANKS6_uc004ayt.2_Silent_p.L253L|ANKS6_uc004ayv.1_Silent_p.L16L|ANKS6_uc004ayw.1_Silent_p.L136L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	554										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TGACTGCTTTCAGCTTGTCAC	0.582		NaN											0	0	0	0.007413	0	15	45				
NEK6	10783	broad.mit.edu	37	9	127113225	127113225	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:127113225G>A	uc004bog.2	+	10	1090	c.941G>A	c.(940-942)TGA>TAA	p.*314*	NEK6_uc004bof.2_Silent_p.*332*|NEK6_uc004boh.2_Silent_p.*348*|NEK6_uc010mwj.2_Silent_p.*267*|NEK6_uc010mwk.2_Silent_p.*314*|NEK6_uc004boi.2_Silent_p.*314*|LOC100129034_uc010mwl.2_5'Flank	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	314					apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						TCCAGCACCTGAGCGTGGATG	0.562		NaN											0	0	0	0.003954	0	25	41				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137328351C>A	uc004cfb.2	+	10	1442	c.1280C>A	c.(1279-1281)TCC>TAC	p.S427Y	RXRA_uc004cfc.1_Missense_Mutation_p.S330Y	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											1	0	5.05997e-48	0.01441	5.85891e-48	73	47		Valid		
COL5A1	1289	broad.mit.edu	37	9	137704337	137704337	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137704337G>A	uc004cfe.2	+	47	4115	c.3733G>A	c.(3733-3735)GTG>ATG	p.V1245M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1245	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACAGGAGACGTGGGCCAGAT	0.537		NaN											0	0	0	0.01441	0	45	35				
DHRSX	207063	broad.mit.edu	37	X	2209621	2209621	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:2209621C>T	uc004cqf.3	-	4	359	c.310G>A	c.(310-312)GCT>ACT	p.A104T		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	104							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCATGGAAGCCAAGTCACAG	0.398		NaN											0	0	0	0.01441	0	186	150				
STS	412	broad.mit.edu	37	X	7175544	7175544	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:7175544C>T	uc004cry.3	+	4	557	c.312C>T	c.(310-312)TTC>TTT	p.F104F		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	104	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TTTTCCTCTTCACAGCCTCTT	0.498		NaN							Ichthyosis				0	0	0	0.009096	0	4	69				
MOSPD2	158747	broad.mit.edu	37	X	14932633	14932633	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:14932633A>C	uc004cwi.2	+	11	1089	c.1001A>C	c.(1000-1002)GAA>GCA	p.E334A	MOSPD2_uc004cwj.2_Missense_Mutation_p.E271A	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	334	MSP.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					AGCCCAGCAGAAGAACTGTAC	0.299		NaN											0	0	0	0.013726	0	31	2				
RNF128	79589	broad.mit.edu	37	X	106038818	106038818	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:106038818C>G	uc004eml.2	+	7	1412	c.1162C>G	c.(1162-1164)CTA>GTA	p.L388V	RNF128_uc004emk.2_Missense_Mutation_p.L362V	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	388						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGATGAAAGTCTACAGCTGGT	0.358		NaN											0	0	0	0.01441	0	48	54				
ARHGEF6	9459	broad.mit.edu	37	X	135761777	135761777	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:135761777G>A	uc004fab.2	-	16	2209	c.1747C>T	c.(1747-1749)CCT>TCT	p.P583S	ARHGEF6_uc011mwd.1_Missense_Mutation_p.P456S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P429S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	583					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ATAATTTGAGGAGGCTCCAAG	0.473		NaN											0	0	0	0.004482	0	7	143				
SLC6A8	6535	broad.mit.edu	37	X	152959662	152959662	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:152959662G>T	uc004fib.3	+	9	1610	c.1332G>T	c.(1330-1332)GAG>GAT	p.E444D	SLC6A8_uc004fic.3_Missense_Mutation_p.E434D|SLC6A8_uc011myx.1_Missense_Mutation_p.E329D|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	444	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCCAAAGGGAGATCTCTGTGG	0.607		NaN											1	0	2.9551e-36	0.01441	3.37984e-36	100	5				
HCFC1	3054	broad.mit.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153236183G>A	uc004fjp.2	-	1	637	c.109C>T	c.(109-111)CGC>TGC	p.R37C	TMEM187_uc004fjq.2_5'Flank	NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	37					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R37C(1)		ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682		NaN											0	0	0	0.004007	0	13	4				
FLNA	2316	broad.mit.edu	37	X	153588566	153588566	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153588566C>T	uc004fkk.2	-	22	3846	c.3597G>A	c.(3595-3597)TCG>TCA	p.S1199S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.S1199S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1199	Filamin 10.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCGCCTCCGAGCAGATCT	0.677		NaN											0	0	0	0.004007	0	14	40				
GAB3	139716	broad.mit.edu	37	X	153944442	153944442	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153944442C>G	uc004fmj.1	-	2	283	c.235G>C	c.(235-237)GAA>CAA	p.E79Q	GAB3_uc004fmk.1_Missense_Mutation_p.E79Q|GAB3_uc010nve.1_Missense_Mutation_p.E79Q|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	79	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTGAAATTCCTTCCGAACA	0.502		NaN											0	0	0	0.01441	0	89	62				
KDM5D	8284	broad.mit.edu	37	Y	21878276	21878276	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrY:21878276C>G	uc004fug.2	-	15	2208	c.1920G>C	c.(1918-1920)AAG>AAC	p.K640N	KDM5D_uc011naz.1_Missense_Mutation_p.K671N|KDM5D_uc010nwy.2_Missense_Mutation_p.K583N|KDM5D_uc011nba.1_Missense_Mutation_p.K640N|KDM5D_uc004fuf.2_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	640					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)	AGGCAGCCATCTTGCAGATGA	0.552		NaN											0	0	0	0.01441	0	48	4				
AGRN	375790	broad.mit.edu	37	1	957650	957650	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:957650A>G	uc001ack.1	+	2	321	c.271A>G	c.(271-273)AAG>GAG	p.K91E		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	91	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCGGCAACAAGGTGGTGAT	0.602		NaN											0	0	0	0.235728	0	37	78				
GJB4	127534	broad.mit.edu	37	1	35227230	35227230	+	Silent	SNP	C	C	T	rs147830069		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:35227230C>T	uc001bxv.1	+	2	745	c.375C>T	c.(373-375)GGC>GGT	p.G125G	GJB4_uc001bxw.3_Silent_p.G125G	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	125	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGCGGGGCGGACTGTGGT	0.592		NaN											0	0	0	0.132662	0	14	28				
OXCT2	64064	broad.mit.edu	37	1	40236123	40236123	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:40236123C>T	uc001ceb.1	-	1	898	c.805G>A	c.(805-807)GTG>ATG	p.V269M	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.V263M	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	269					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CCCTTTATCACGCGATCTACA	0.532		NaN									OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.234183	0	22	107				
PRPF38B	55119	broad.mit.edu	37	1	109242068	109242068	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:109242068G>A	uc001dvv.3	+	6	1349	c.1067G>A	c.(1066-1068)AGA>AAA	p.R356K	PRPF38B_uc001dvw.3_Missense_Mutation_p.R245K|PRPF38B_uc010ouz.1_Missense_Mutation_p.R159K	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	356	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		gatcgagaaagagagaaagaa	0.219		NaN											0	0	0	0.038147	0	8	26				
RSBN1	54665	broad.mit.edu	37	1	114340631	114340631	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:114340631T>C	uc001edq.2	-	2	767	c.731A>G	c.(730-732)CAG>CGG	p.Q244R	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	244						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCGGCTCTCTGGGTTTTACC	0.358		NaN											0	0	0	0.11126	0	44	71				
ADAM30	11085	broad.mit.edu	37	1	120438648	120438648	+	Silent	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:120438648A>T	uc001eij.2	-	1	466	c.312T>A	c.(310-312)CCT>CCA	p.P104P		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	104					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P104L(1)		ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTGGTATGTAAGGATGATCCT	0.502		NaN											0	0	0	0.153744	0	33	35				
PDE4DIP	9659	broad.mit.edu	37	1	144922560	144922560	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:144922560T>C	uc001elw.3	-	7	1138	c.847A>G	c.(847-849)ATT>GTT	p.I283V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I349V|PDE4DIP_uc001emc.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emd.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emb.1_Missense_Mutation_p.I446V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.I70V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	283	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGTTCTGAATTGTACCATCT	0.388		NaN	T	PDGFRB	MPD								0	0	0	0.139131	0	48	383				
S100A5	6276	broad.mit.edu	37	1	153509783	153509783	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:153509783C>T	uc001fbx.2	-	4	550	c.322G>A	c.(322-324)GAC>AAC	p.D108N	S100A6_uc001fbw.1_5'Flank	NM_002962	NP_002953	P33763	S10A5_HUMAN	S100 calcium binding protein A5	90						nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTTGTTGTCCTCTAGAAAG	0.582		NaN											0	0	0	0.134883	0	31	33				
ATF6	22926	broad.mit.edu	37	1	161771931	161771931	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:161771931G>A	uc001gbr.2	+	7	845	c.778G>A	c.(778-780)GGG>AGG	p.G260R	ATF6_uc001gbq.1_Missense_Mutation_p.G260R	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	260	Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGCTGTTGCTGGGGGAGTCAC	0.532		NaN											0	0	0	0.108266	0	23	71				
VAMP4	8674	broad.mit.edu	37	1	171707494	171707494	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:171707494C>T	uc001ghx.1	-	2	275	c.61G>A	c.(61-63)GAA>AAA	p.E21K	VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.E21K	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	21	Cytoplasmic (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTACCCTTTCACTTTTCACA	0.318		NaN											0	0	0	0.038147	0	6	27				
LOC642587	642587	broad.mit.edu	37	1	209602671	209602671	+	Missense_Mutation	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:209602671A>T	uc009xcn.2	+	2	412	c.29A>T	c.(28-30)CAA>CTA	p.Q10L	LOC642587_uc010psk.1_5'Flank|MIR205_hsa-mir-205|MI0000285_5'Flank	NM_001104548	NP_001098018			hypothetical protein LOC642587												0				OV - Ovarian serous cystadenocarcinoma(81;0.0422)		GAGAGAAATCAACTATTCAGG	0.284		NaN											0	0	0	0.115264	0	2	4				
DISP1	84976	broad.mit.edu	37	1	223116445	223116445	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:223116445C>T	uc001hnu.1	+	2	427	c.280C>T	c.(280-282)CAT>TAT	p.H94Y		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	94					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTTGACTAGCCATAGCAGTCA	0.532		NaN											0	0	0	0.144211	0	29	94				
LYST	1130	broad.mit.edu	37	1	235884187	235884187	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:235884187G>C	uc001hxj.2	-	40	9509	c.9334C>G	c.(9334-9336)CAC>GAC	p.H3112D	LYST_uc001hxi.2_Missense_Mutation_p.H336D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3112					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTATATTGTGGTATACATCA	0.338		NaN							Chediak-Higashi_syndrome				0	0	0	0.219247	0	21	91				
AHCTF1	25909	broad.mit.edu	37	1	247025300	247025300	+	Silent	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:247025300T>A	uc001ibu.1	-	27	3703	c.3696A>T	c.(3694-3696)TCA>TCT	p.S1232S	AHCTF1_uc001ibv.1_Silent_p.S1241S|AHCTF1_uc009xgs.1_Silent_p.S93S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1232	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCCACAAATGAAATTCTAG	0.398		NaN											0	0	0	0.234183	0	21	21				
ARMC3	219681	broad.mit.edu	37	10	23326230	23326230	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:23326230C>G	uc001irm.3	+	19	2524	c.2441C>G	c.(2440-2442)TCC>TGC	p.S814C	ARMC3_uc010qcv.1_Missense_Mutation_p.S807C|ARMC3_uc010qcw.1_Missense_Mutation_p.S551C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	814							binding				0						ATTGGTTGCTCCCTAGTTCGC	0.532		NaN											0	0	0	0.116897	0	26	59				
BAMBI	25805	broad.mit.edu	37	10	28970934	28970934	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:28970934T>A	uc001iuj.1	+	3	790	c.387T>A	c.(385-387)CAT>CAA	p.H129Q	BAMBI_uc001iui.2_3'UTR	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	129	Extracellular (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4						GGTATCAGCATGATGGTAGCA	0.453		NaN											0	0	0	0.214465	0	38	67				
ZNF37A	7587	broad.mit.edu	37	10	38407014	38407014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:38407014C>G	uc001izk.2	+	8	1754	c.935C>G	c.(934-936)TCA>TGA	p.S312*	ZNF37A_uc001izl.2_Nonsense_Mutation_p.S312*|ZNF37A_uc001izm.2_Nonsense_Mutation_p.S312*	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	312	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						TATAAGAATTCAGACCTCATT	0.423		NaN											0	0	0	0.193644	0	36	76				
MYOZ1	58529	broad.mit.edu	37	10	75391746	75391746	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:75391746G>A	uc001jur.2	-	6	1207	c.842C>T	c.(841-843)CCT>CTT	p.P281L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	281					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					GTAGTCTACAGGCTCCCCAGA	0.532		NaN											0	0	0	0.204396	0	21	32				
RNLS	55328	broad.mit.edu	37	10	90034726	90034726	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:90034726G>A	uc001kfd.2	-	7	1075	c.940C>T	c.(940-942)CCC>TCC	p.P314S	RNLS_uc010qms.1_Missense_Mutation_p.P231S	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN	renalase isoform 2	Error:Variant_position_missing_in_Q5VYX0_after_alignment						extracellular region	oxidoreductase activity			ovary(1)	1						AGTCAGATGGGAAATCCAATC	0.348		NaN											0	0	0	0.069234	0	10	40				
SORBS1	10580	broad.mit.edu	37	10	97141472	97141472	+	Silent	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:97141472G>T	uc001kkp.2	-	16	1668	c.1623C>A	c.(1621-1623)GGC>GGA	p.G541G	SORBS1_uc001kkk.2_Silent_p.G119G|SORBS1_uc001kkl.2_Silent_p.G143G|SORBS1_uc001kkn.2_Silent_p.G328G|SORBS1_uc001kkm.2_Silent_p.G397G|SORBS1_uc001kko.2_Silent_p.G563G|SORBS1_uc001kkq.2_Silent_p.G426G|SORBS1_uc001kkr.2_Silent_p.G331G|SORBS1_uc001kks.2_Silent_p.G331G|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.G372G|SORBS1_uc001kkv.2_Silent_p.G463G|SORBS1_uc001kkw.2_Silent_p.G495G|SORBS1_uc010qoe.1_Silent_p.G340G|SORBS1_uc010qof.1_Silent_p.G693G	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	541					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGGAAGACTTGCCAGGCTGAT	0.403		NaN											1	0	2.32078e-09	0.132662	2.50046e-09	14	79				
PPRC1	23082	broad.mit.edu	37	10	103907098	103907098	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:103907098C>T	uc001kum.2	+	9	4388	c.4349C>T	c.(4348-4350)TCA>TTA	p.S1450L	PPRC1_uc001kun.2_Missense_Mutation_p.S1330L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1450	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTCTTCCTCATCCCGATCT	0.597		NaN											0	0	0	0.193644	0	34	22				
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:533875G>T	uc001lpv.2	-	3	369	c.181C>A	c.(181-183)CAG>AAG	p.Q61K	HRAS_uc010qvw.1_Missense_Mutation_p.Q61K|HRAS_uc010qvx.1_Missense_Mutation_p.Q61K|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	61	GTP.		Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(112)|p.Q61L(91)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			1	0	5.20837e-25	0.268233	5.91699e-25	41	42		Valid		
BRSK2	9024	broad.mit.edu	37	11	1463777	1463777	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:1463777C>T	uc001lti.2	+	5	857	c.471C>T	c.(469-471)ATC>ATT	p.I157I	BRSK2_uc009ycv.1_Silent_p.I157I|BRSK2_uc001lth.1_Silent_p.I157I|BRSK2_uc001ltj.2_Silent_p.I157I|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.I157I|BRSK2_uc001ltm.2_Silent_p.I203I|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	157	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACATCCGCATCGCAGACTTTG	0.622		NaN											0	0	0	0.204396	0	19	9				
OR56B4	196335	broad.mit.edu	37	11	6129922	6129922	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:6129922T>A	uc010qzx.1	+	1	914	c.914T>A	c.(913-915)CTG>CAG	p.L305Q		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCAGACTGGGCTTTCAG	0.488		NaN											0	0	0	0.139131	0	57	51				
PC	5091	broad.mit.edu	37	11	66636412	66636412	+	Silent	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:66636412G>C	uc001ojn.1	-	8	976	c.927C>G	c.(925-927)ACC>ACG	p.T309T	PC_uc001ojo.1_Silent_p.T309T|PC_uc001ojp.1_Silent_p.T309T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	309	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAACTCCACGGTGCCTGCGT	0.637		NaN											0	0	0	0.219247	0	17	49				
KBTBD3	143879	broad.mit.edu	37	11	105923955	105923955	+	Silent	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:105923955A>G	uc001pja.2	-	4	2101	c.1461T>C	c.(1459-1461)TCT>TCC	p.S487S	KBTBD3_uc001pjb.2_Silent_p.S487S|KBTBD3_uc009yxm.2_Silent_p.S408S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	483	Kelch 4.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTACTAGTTCAGACCACTGAT	0.348		NaN											0	0	0	0.204396	0	21	8				
ATM	472	broad.mit.edu	37	11	108115703	108115703	+	Missense_Mutation	SNP	A	A	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:108115703A>C	uc001pkb.1	+	7	1236	c.851A>C	c.(850-852)CAA>CCA	p.Q284P	ATM_uc009yxr.1_Missense_Mutation_p.Q284P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	284					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAATTATTTCAACTGCAAATT	0.308		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.234183	0	22	20		Valid		
LRTM2	654429	broad.mit.edu	37	12	1940432	1940432	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:1940432G>A	uc001qjt.2	+	4	1205	c.399G>A	c.(397-399)AGG>AGA	p.R133R	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.R133R|LRTM2_uc010sdx.1_Silent_p.R133R|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	133	Extracellular (Potential).|LRR 3.					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCCTGGACAGGGACCTGCTGC	0.637		NaN									OREG0005740	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	0	0	0	0.09319	0	12	61				
KCNA1	3736	broad.mit.edu	37	12	5020962	5020962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:5020962G>T	uc001qnh.2	+	2	1523	c.418G>T	c.(418-420)GAG>TAG	p.E140*		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	140					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCAAGGAGGAGGAGCGCCC	0.627		NaN											1	0	7.05477e-17	0.160694	7.90702e-17	18	45				
PIK3C2G	5288	broad.mit.edu	37	12	18644430	18644430	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:18644430G>A	uc001rdt.2	+	19	2724	c.2608G>A	c.(2608-2610)GAT>AAT	p.D870N	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D911N|PIK3C2G_uc010sic.1_Missense_Mutation_p.D689N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	870					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				GTTCTTTCAAGATGTAAATAC	0.333		NaN											0	0	0	0.11911	0	12	59				
COL2A1	1280	broad.mit.edu	37	12	48375154	48375154	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:48375154G>A	uc001rqu.2	-	37	2616	c.2435C>T	c.(2434-2436)GCA>GTA	p.A812V	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A743V	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	812	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCACTTCCTGCAGGACCAGG	0.637		NaN											0	0	0	0.184627	0	4	9				
RARG	5916	broad.mit.edu	37	12	53607337	53607337	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:53607337G>C	uc001sce.2	-	8	1446	c.961C>G	c.(961-963)CTG>GTG	p.L321V	RARG_uc001scd.2_Missense_Mutation_p.L310V|RARG_uc010sob.1_Missense_Mutation_p.L299V|RARG_uc001scf.2_Missense_Mutation_p.L321V|RARG_uc001scg.2_Missense_Mutation_p.L249V|RARG_uc010soc.1_Missense_Mutation_p.L200V|RARG_uc010sod.1_Missense_Mutation_p.L358V	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	321	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCATCTCCAGGGGCAGGAGC	0.652		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.09319	0	13	29				
LTA4H	4048	broad.mit.edu	37	12	96394858	96394858	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:96394858T>C	uc001ten.1	-	19	1813	c.1745A>G	c.(1744-1746)CAT>CGT	p.H582R	LTA4H_uc010suy.1_Missense_Mutation_p.H544R|LTA4H_uc010suz.1_3'UTR	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	582					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						AGCTTGATCATGGGATTTGTC	0.363		NaN											0	0	0	0.058154	0	9	50				
B3GNT4	79369	broad.mit.edu	37	12	122689184	122689184	+	Missense_Mutation	SNP	T	T	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:122689184T>G	uc001ubx.2	+	2	237	c.19T>G	c.(19-21)TCC>GCC	p.S7A	B3GNT4_uc001uby.2_Intron	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	7	Cytoplasmic (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCCCCAGCCTTCCGCAGCCCA	0.537		NaN											0	0	0	0.038147	0	7	26				
GPR133	283383	broad.mit.edu	37	12	131476886	131476886	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:131476886C>T	uc001uit.3	+	8	1474	c.915C>T	c.(913-915)CTC>CTT	p.L305L	GPR133_uc010tbm.1_Silent_p.L337L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	305	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGTATCCCTCAGCTTACCCA	0.502		NaN											0	0	0	0.116897	0	30	86				
MIPEP	4285	broad.mit.edu	37	13	24304530	24304530	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:24304530T>C	uc001uox.3	-	19	2199	c.2099A>G	c.(2098-2100)GAC>GGC	p.D700G		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	700					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CAGATCCAAGTCGGAAACGAG	0.413		NaN											0	0	0	0.219247	0	21	11				
BRCA2	675	broad.mit.edu	37	13	32900694	32900694	+	Missense_Mutation	SNP	T	T	C	rs80358805		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:32900694T>C	uc001uub.1	+	7	802	c.575T>C	c.(574-576)ATG>ACG	p.M192T	BRCA2_uc001uua.1_Missense_Mutation_p.M69T	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	192			M -> T (in one patient with pancreatic cancer).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATCCTGATATGTCTTGGTCA	0.393		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.139131	0	45	37				
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:48985612G>A	uc010acu.2	-	1	2042	c.948C>T	c.(946-948)TTC>TTT	p.F316F	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	316	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GAACTTCAGAGAATCTGAAGT	0.338		NaN											0	0	0	0.26419	0	24	87				
MLNR	2862	broad.mit.edu	37	13	49795318	49795318	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:49795318G>A	uc010tgj.1	+	1	845	c.845G>A	c.(844-846)CGA>CAA	p.R282Q		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	282	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGCCGCTGCGAGGCCCGGCC	0.701		NaN											0	0	0	0.204396	0	20	4				
MYCBP2	23077	broad.mit.edu	37	13	77750673	77750673	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:77750673C>T	uc001vkf.2	-	37	5408	c.5317G>A	c.(5317-5319)GAT>AAT	p.D1773N	MYCBP2_uc010aev.2_Missense_Mutation_p.D1177N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAGCTATATCACTGGGTGAG	0.363		NaN											0	0	0	0.248553	0	6	24				
FAM70B	348013	broad.mit.edu	37	13	114514838	114514838	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:114514838T>C	uc001vuh.2	+	9	970	c.943T>C	c.(943-945)TTT>CTT	p.F315L		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	315	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			ACCCACCTACTTTCCCCCGGG	0.567		NaN											0	0	0	0.204396	0	18	75				
TC2N	123036	broad.mit.edu	37	14	92278710	92278710	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:92278710A>G	uc001xzu.3	-	3	438	c.247T>C	c.(247-249)TCT>CCT	p.S83P	TC2N_uc001xzt.3_Missense_Mutation_p.S83P|TC2N_uc010auc.2_Missense_Mutation_p.S83P|TC2N_uc001xzv.3_Missense_Mutation_p.S83P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	83						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		TGAATGTAAGATAACTTAAAC	0.363		NaN											0	0	0	0.11911	0	14	19				
CDC42BPB	9578	broad.mit.edu	37	14	103440459	103440459	+	Missense_Mutation	SNP	T	T	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:103440459T>G	uc001ymi.1	-	12	1767	c.1535A>C	c.(1534-1536)GAG>GCG	p.E512A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	512	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACTGTGTCCTCAAGCTGTCG	0.532		NaN											0	0	0	0.09319	0	12	36				
TDRD9	122402	broad.mit.edu	37	14	104471727	104471727	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:104471727C>T	uc001yom.3	+	15	1728	c.1698C>T	c.(1696-1698)ATC>ATT	p.I566I	TDRD9_uc001yon.3_Silent_p.I304I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	566					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCGCACCATCCTTCTACTAA	0.532		NaN											0	0	0	0.105934	0	14	26				
MESDC2	23184	broad.mit.edu	37	15	81282111	81282111	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr15:81282111G>A	uc002bfy.1	-	1	95	c.22C>T	c.(22-24)CGC>TGC	p.R8C	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	8	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						ACGGCCTTGCGCGCCCACCTG	0.647		NaN											0	0	0	0.09319	0	13	3				
KIAA0430	9665	broad.mit.edu	37	16	15705592	15705592	+	Splice_Site	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:15705592C>T	uc002ddr.2	-	18	3668	c.3475_splice	c.e18-1	p.I1159_splice	KIAA0430_uc002ddq.2_Splice_Site_p.I993_splice|KIAA0430_uc010uzv.1_Splice_Site_p.I1155_splice|KIAA0430_uc010uzw.1_Splice_Site_p.I1158_splice	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1							peroxisome	nucleotide binding|RNA binding				0						TTCCAAGAATCTGCAAAGCAA	0.488		NaN											0	0	0	0.26419	0	24	26				
SCNN1G	6340	broad.mit.edu	37	16	23224042	23224042	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:23224042G>T	uc002dlm.1	+	9	1477	c.1338G>T	c.(1336-1338)GAG>GAT	p.E446D		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	446	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCAGGAAGAGCTGGGCTGCC	0.587		NaN											1	0	4.96729e-08	0.204396	5.25024e-08	18	71				
ERN2	10595	broad.mit.edu	37	16	23718361	23718361	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:23718361G>T	uc002dma.3	-	5	659	c.490C>A	c.(490-492)CCC>ACC	p.P164T	ERN2_uc010bxp.2_Missense_Mutation_p.P164T|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	116	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCGGCAGGGAGAGGCATGA	0.552		NaN											1	0	1.05317e-09	0.11911	1.14207e-09	13	27				
TMEM208	29100	broad.mit.edu	37	16	67262275	67262275	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:67262275G>A	uc002esi.2	+	3	226	c.120G>A	c.(118-120)GTG>GTA	p.V40V	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	40	Helical; (Potential).					integral to membrane					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ACTGCCTTGTGACGTTGGTCT	0.512		NaN											0	0	0	0.219247	0	20	54				
ZZEF1	23140	broad.mit.edu	37	17	3936218	3936218	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:3936218G>A	uc002fxe.2	-	41	6727	c.6663C>T	c.(6661-6663)GTC>GTT	p.V2221V	ZZEF1_uc002fxh.2_Silent_p.V535V|ZZEF1_uc002fxi.2_Silent_p.V456V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2221							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGGTGGCAATGACATCACGCC	0.587		NaN											0	0	0	0.248553	0	7	14				
ENO3	2027	broad.mit.edu	37	17	4859385	4859385	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:4859385C>A	uc002gab.3	+	9	1108	c.1014C>A	c.(1012-1014)AAC>AAA	p.N338K	ENO3_uc002gac.3_Missense_Mutation_p.N338K|ENO3_uc010vss.1_Missense_Mutation_p.N295K|ENO3_uc010vst.1_Missense_Mutation_p.N165K	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	338					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						AGGCCTGCAACTGTCTGCTGC	0.597		NaN											1	0	2.4624e-09	0.204396	2.63603e-09	21	54				
DNAH2	146754	broad.mit.edu	37	17	7734577	7734577	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:7734577C>T	uc002giu.1	+	79	12418	c.12404C>T	c.(12403-12405)TCC>TTC	p.S4135F	DNAH2_uc010cnm.1_Missense_Mutation_p.S1073F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4135	TPR 5.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTTTGCTTTCCTTGCAACCT	0.572		NaN											0	0	0	0.144211	0	32	158				
MYH10	4628	broad.mit.edu	37	17	8417200	8417200	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:8417200C>T	uc002gll.2	-	20	2520	c.2424G>A	c.(2422-2424)AAG>AAA	p.K808K	MYH10_uc002glm.2_Silent_p.K839K|MYH10_uc010cnx.2_Silent_p.K817K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	808	IQ.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GCTGCTGCTTCTTGGCAAAGG	0.458		NaN											0	0	0	0.219247	0	22	16				
MYH8	4626	broad.mit.edu	37	17	10298707	10298707	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:10298707T>A	uc002gmm.2	-	34	4800	c.4705A>T	c.(4705-4707)AAC>TAC	p.N1569Y	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1569	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGACTTGGTTTAACTCAAGC	0.393		NaN							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				0	0	0	0.234183	0	21	64				
ITGA2B	3674	broad.mit.edu	37	17	42462976	42462976	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:42462976C>T	uc002igt.1	-	4	549	c.517G>A	c.(517-519)GAG>AAG	p.E173K		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	173	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGGAGTACTCGGCGCGGCGG	0.617		NaN											0	0	0	0.217242	0	5	5				
DDX5	1655	broad.mit.edu	37	17	62496243	62496243	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:62496243T>C	uc002jek.2	-	13	1890	c.1643A>G	c.(1642-1644)AAT>AGT	p.N548S	DDX5_uc010deh.2_Missense_Mutation_p.N548S|DDX5_uc002jej.2_Missense_Mutation_p.N443S|DDX5_uc010wqa.1_Missense_Mutation_p.N469S	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	548					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGACACAAAATTACTTCCAAA	0.413		NaN	T	ETV4	prostate								0	0	0	0.139131	0	59	60				
RAB37	326624	broad.mit.edu	37	17	72741012	72741012	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:72741012G>T	uc002jlk.2	+	7	489	c.433G>T	c.(433-435)GCG>TCG	p.A145S	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.A138S|RAB37_uc002jld.2_Missense_Mutation_p.A138S|RAB37_uc010wrb.1_Missense_Mutation_p.A113S|RAB37_uc010wrc.1_Missense_Mutation_p.A150S|RAB37_uc010wrd.1_Missense_Mutation_p.A113S|RAB37_uc010wre.1_Missense_Mutation_p.A108S|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	145	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						GGCTTGACAGGCGGATATGAG	0.617		NaN									OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.28177e-16	0.189662	9.22037e-16	20	32				
DSC1	1823	broad.mit.edu	37	18	28737511	28737511	+	Silent	SNP	C	C	G	rs147816863		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr18:28737511C>G	uc002kwn.2	-	3	436	c.174G>C	c.(172-174)TCG>TCC	p.S58S	DSC1_uc002kwm.2_Silent_p.S58S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	58					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTAGGCTGGCCGACTTGAGAC	0.448		NaN											0	0	0	0.11911	0	14	43				
LINGO3	645191	broad.mit.edu	37	19	2290209	2290209	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:2290209C>T	uc010dsx.1	-	2	1695	c.1567G>A	c.(1567-1569)GAC>AAC	p.D523N	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	523	Extracellular (Potential).					integral to membrane					0						GTGGTGAGGTCGAGCGGCGCG	0.716		NaN											0	0	0	0.11911	0	14	11				
KHSRP	8570	broad.mit.edu	37	19	6418059	6418059	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:6418059C>T	uc002mer.3	-	10	1021	c.911G>A	c.(910-912)CGG>CAG	p.R304Q		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	304	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						GTCACGTTCCCGGAGGATGTC	0.642		NaN									OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.184627	0	5	21				
COL5A3	50509	broad.mit.edu	37	19	10099815	10099815	+	Silent	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:10099815T>C	uc002mmq.1	-	27	2216	c.2130A>G	c.(2128-2130)GGA>GGG	p.G710G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	710	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTCCCCGAGGTCCAGGATAGC	0.542		NaN											0	0	0	0.125774	0	28	50				
TSPAN16	26526	broad.mit.edu	37	19	11417292	11417292	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:11417292G>T	uc002mqv.1	+	5	613	c.463G>T	c.(463-465)GGG>TGG	p.G155W	TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	155	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						AAAGTGCTGTGGGGTGAATAA	0.438		NaN											1	0	9.04412e-07	0.099896	9.4398e-07	25	40				
NDUFA13	51079	broad.mit.edu	37	19	19646428	19646428	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:19646428C>T	uc010xqy.1	+	7	1139	c.880C>T	c.(880-882)CGC>TGC	p.R294C	YJEFN3_uc002nmt.1_Missense_Mutation_p.R212C|YJEFN3_uc010ecf.1_Missense_Mutation_p.R162C|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	CCCCTGCACCCGCGCGCTGGC	0.706		NaN											0	0	0	0.115264	0	3	9				
TSHZ3	57616	broad.mit.edu	37	19	31768141	31768141	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:31768141T>A	uc002nsy.3	-	2	2623	c.2558A>T	c.(2557-2559)AAC>ATC	p.N853I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	853					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CTCTGTCAAGTTCTTCAGCAT	0.527		NaN											0	0	0	0.249174	0	22	91				
MLL4	9757	broad.mit.edu	37	19	36229445	36229445	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:36229445G>A	uc010eei.2	+	38	8135	c.8135G>A	c.(8134-8136)CGG>CAG	p.R2712Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2712	Post-SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCTGCCGTCGGTTCCTTAAC	0.652		NaN											0	0	0	0.248553	0	6	8		Valid		
DPF1	8193	broad.mit.edu	37	19	38709576	38709576	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:38709576A>G	uc002ohl.2	-	4	529	c.502T>C	c.(502-504)TGT>CGT	p.C168R	DPF1_uc002ohm.2_Missense_Mutation_p.C168R|DPF1_uc002ohn.2_Missense_Mutation_p.C86R|DPF1_uc010xtu.1_Missense_Mutation_p.C142R|DPF1_uc010xtv.1_Missense_Mutation_p.C142R|DPF1_uc010xtw.1_Missense_Mutation_p.C142R	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	168					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCACCTGACAGTCCATAATG	0.657		NaN											0	0	0	0.268233	0	44	61				
ERCC2	2068	broad.mit.edu	37	19	45872380	45872380	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:45872380G>A	uc002pbj.2	-	3	178	c.131C>T	c.(130-132)TCA>TTA	p.S44L	ERCC2_uc010ejz.2_Missense_Mutation_p.S44L|ERCC2_uc002pbk.2_Missense_Mutation_p.S20L|ERCC2_uc002pbl.3_Missense_Mutation_p.S20L|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	44	ATP (By similarity).|Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCGGTGCCTGAGGGCATCTC	0.587		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.204396	0	18	77		Valid		
GRLF1	2909	broad.mit.edu	37	19	47422438	47422438	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:47422438G>A	uc010ekv.2	+	1	506	c.506G>A	c.(505-507)GGC>GAC	p.G169D		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	169					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GTTAGCAGGGGCATGAATAGG	0.458		NaN											0	0	0	0.125774	0	30	37				
ZNF671	79891	broad.mit.edu	37	19	58232719	58232719	+	Silent	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:58232719T>C	uc002qpz.3	-	4	834	c.735A>G	c.(733-735)AAA>AAG	p.K245K	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Silent_p.K168K|ZNF671_uc010yhf.1_Silent_p.K147K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCTCCTACCTTTCCCACATG	0.527		NaN											0	0	0	0.132662	0	16	44				
ALLC	55821	broad.mit.edu	37	2	3750104	3750104	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:3750104G>A	uc010ewt.2	+	12	1288	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	ALLC_uc002qyf.2_Missense_Mutation_p.R147Q	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	395							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CTGAGGCCCCGGGAGAAGCCC	0.597		NaN								HNSCC(21;0.051)			0	0	0	0.09319	0	12	27				
C2orf39	92749	broad.mit.edu	37	2	26624885	26624885	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:26624885C>T	uc002rhg.2	+	1	102	c.28C>T	c.(28-30)CTG>TTG	p.L10L	C2orf39_uc010eym.1_RNA	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	10											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAGAGGCCCTGGACCCGAA	0.657		NaN											0	0	0	0.038147	0	7	19				
VIT	5212	broad.mit.edu	37	2	37032673	37032673	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:37032673G>T	uc002rpl.2	+	14	1476	c.1255G>T	c.(1255-1257)GGC>TGC	p.G419C	VIT_uc002rpm.2_Missense_Mutation_p.G397C|VIT_uc010ezv.2_Missense_Mutation_p.G375C|VIT_uc010ezw.2_Missense_Mutation_p.G376C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	404	VWFA 1.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GATGGTGGATGGCTGGCCCAC	0.502		NaN											1	0	2.39556e-15	0.26419	2.6494e-15	23	106				
MPHOSPH10	10199	broad.mit.edu	37	2	71368431	71368431	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:71368431T>A	uc002sht.1	+	7	1730	c.1378T>A	c.(1378-1380)TTA>ATA	p.L460I		NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	460					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3						GCGTTTAACCTTAGACCATGA	0.378		NaN											0	0	0	0.139131	0	89	180				
FAHD2A	51011	broad.mit.edu	37	2	96072867	96072867	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:96072867G>C	uc002sur.2	+	3	603	c.424G>C	c.(424-426)GGG>CGG	p.G142R	FAHD2A_uc002sus.2_Missense_Mutation_p.G142R	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	142							hydrolase activity|metal ion binding			ovary(1)	1						CTCCATCGTGGGGCCCTATGA	0.577		NaN											0	0	0	0.153744	0	32	45				
GLI2	2736	broad.mit.edu	37	2	121747297	121747297	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:121747297C>T	uc010flp.2	+	13	3837	c.3807C>T	c.(3805-3807)TCC>TCT	p.S1269S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.S941S|GLI2_uc002tmu.3_Silent_p.S924S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1269					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TCCCCCAATCCTGCAGCAACA	0.622		NaN											0	0	0	0.083992	0	24	15				
CCDC74B	91409	broad.mit.edu	37	2	130897506	130897506	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:130897506G>A	uc002tqm.1	-	7	1027	c.965C>T	c.(964-966)ACG>ATG	p.T322M	CCDC74B_uc010yzw.1_Missense_Mutation_p.T424M|CCDC74B_uc002tqn.1_Missense_Mutation_p.T256M	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	322											0	Colorectal(110;0.1)					GGGGAAATGCGTGGCTTCTTG	0.627		NaN											0	0	0	0.249174	0	20	42				
RBM44	375316	broad.mit.edu	37	2	238726589	238726589	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:238726589G>A	uc002vxi.3	+	3	1162	c.1030G>A	c.(1030-1032)GGA>AGA	p.G344R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	343							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGATTTTTGTGGAAATAAAAT	0.308		NaN											0	0	0	0.116897	0	28	20				
CHGB	1114	broad.mit.edu	37	20	5904525	5904525	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:5904525G>T	uc002wmg.2	+	4	2041	c.1735G>T	c.(1735-1737)GAT>TAT	p.D579Y	CHGB_uc010zqz.1_Missense_Mutation_p.D262Y	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	579						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						CTTCTCTGAGGATGTGAACTG	0.502		NaN											1	0	4.14922e-12	0.146539	4.52888e-12	15	52				
SAMHD1	25939	broad.mit.edu	37	20	35579911	35579911	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:35579911C>T	uc002xgh.1	-	1	266	c.136G>A	c.(136-138)GGT>AGT	p.G46S		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	46	SAM.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				TGCTCCGGACCCCATGTCTTG	0.652		NaN											0	0	0	0.153744	0	32	148				
PSMA7	5688	broad.mit.edu	37	20	60714933	60714933	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:60714933G>A	uc002ybx.1	-	3	367	c.252C>T	c.(250-252)ATC>ATT	p.I84I	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GGGCCCTGTTGATGACTATCC	0.597		NaN											0	0	0	0.11911	0	15	21				
DIDO1	11083	broad.mit.edu	37	20	61527666	61527666	+	Missense_Mutation	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:61527666A>T	uc002ydr.1	-	8	2397	c.2133T>A	c.(2131-2133)TTT>TTA	p.F711L	DIDO1_uc002yds.1_Missense_Mutation_p.F711L|DIDO1_uc002ydt.1_Missense_Mutation_p.F711L|DIDO1_uc002ydu.1_Missense_Mutation_p.F711L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	711	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAAACAAGTTAAACATCTCCT	0.388		NaN											0	0	0	0.234183	0	23	56				
BRWD1	54014	broad.mit.edu	37	21	40569194	40569194	+	Missense_Mutation	SNP	G	G	A	rs145664878		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr21:40569194G>A	uc002yxk.1	-	41	5940	c.5801C>T	c.(5800-5802)ACG>ATG	p.T1934M	BRWD1_uc010goc.1_Missense_Mutation_p.T577M|BRWD1_uc002yxl.2_Missense_Mutation_p.T1934M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGGCAGCCGTAGCTGCACA	0.423		NaN											0	0	0	0.139131	0	56	29				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr22:29091841G>A	uc003adu.1	-	11	1188	c.1116C>T	c.(1114-1116)TCC>TCT	p.S372S	CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	372	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(1)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCAAAATCTTGGAGTGCCCAA	0.413		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.047766	0	6	51				
SLC35E4	339665	broad.mit.edu	37	22	31032724	31032724	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr22:31032724G>A	uc003ais.1	+	1	932	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	SLC35E4_uc003ait.2_Missense_Mutation_p.R84Q	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral to membrane					0						GCATGCCACCGGGGGGCACGG	0.662		NaN											0	0	0	0.080935	0	12	3				
LRRN1	57633	broad.mit.edu	37	3	3886952	3886952	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:3886952G>A	uc003bpt.3	+	2	1388	c.627G>A	c.(625-627)ATG>ATA	p.M209I	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	209	Extracellular (Potential).|LRR 6.					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCTGGATATGAACTTCAAAC	0.413		NaN											0	0	0	0.139131	0	89	158				
DCLK3	85443	broad.mit.edu	37	3	36779198	36779198	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:36779198G>A	uc003cgi.2	-	2	1444	c.953C>T	c.(952-954)CCT>CTT	p.P318L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	318						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TAGCTTTGCAGGTTGGTCATC	0.567		NaN											0	0	0	0.139131	0	53	131				
ZNF502	91392	broad.mit.edu	37	3	44762896	44762896	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:44762896C>T	uc011baa.1	+	4	842	c.587C>T	c.(586-588)TCA>TTA	p.S196L	ZNF502_uc003cns.2_Missense_Mutation_p.S196L|ZNF502_uc011bab.1_Missense_Mutation_p.S196L|ZNF502_uc003cnt.2_Missense_Mutation_p.S196L	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	196	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGTCGTAGTTCATTCCTTGTT	0.428		NaN											0	0	0	0.139131	0	70	159				
CDC25A	993	broad.mit.edu	37	3	48224431	48224431	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:48224431C>A	uc003csh.1	-	5	781	c.417G>T	c.(415-417)GAG>GAT	p.E139D	CDC25A_uc003csi.1_Missense_Mutation_p.E139D	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	139					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTTCCTTGTTCTCATCTGGGT	0.483		NaN											1	0	3.73148e-12	0.125774	4.09971e-12	29	61				
CELSR3	1951	broad.mit.edu	37	3	48682555	48682555	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:48682555G>A	uc003cul.2	-	25	8166	c.7885C>T	c.(7885-7887)CGC>TGC	p.R2629C	CELSR3_uc003cuf.1_Missense_Mutation_p.R2726C|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.R612C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2629	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTGCATGCGGTAGAGGTGC	0.657		NaN											0	0	0	0.146539	0	14	22				
C3orf63	23272	broad.mit.edu	37	3	56662575	56662575	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:56662575A>G	uc003did.3	-	18	3733	c.3632T>C	c.(3631-3633)TTA>TCA	p.L1211S	C3orf63_uc003dib.3_Missense_Mutation_p.L330S|C3orf63_uc003dic.3_Missense_Mutation_p.L835S|C3orf63_uc003die.3_Missense_Mutation_p.L1272S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1272										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TAGTTTATCTAATTTTGATCT	0.274		NaN											0	0	0	0.132662	0	16	41				
ATP13A3	79572	broad.mit.edu	37	3	194174455	194174455	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:194174455G>A	uc003fty.3	-	9	1220	c.818C>T	c.(817-819)TCA>TTA	p.S273L	ATP13A3_uc003ftz.1_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	273					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTACAAACTGAAACTCTTAC	0.348		NaN											0	0	0	0.204396	0	19	24				
TNK2	10188	broad.mit.edu	37	3	195599181	195599181	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:195599181G>C	uc003fvu.1	-	10	1960	c.1417C>G	c.(1417-1419)CGC>GGC	p.R473G	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Missense_Mutation_p.R505G|TNK2_uc003fvt.1_Missense_Mutation_p.R536G|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Missense_Mutation_p.R303G	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	473				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGCAGTGGCGGGGGTCACTG	0.677		NaN											0	0	0	0.038147	0	8	18				
PAK2	5062	broad.mit.edu	37	3	196530009	196530009	+	Missense_Mutation	SNP	A	A	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:196530009A>C	uc003fwy.3	+	4	732	c.410A>C	c.(409-411)CAG>CCG	p.Q137P		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	137	Autoregulatory region (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGTGAAGCAGAAATATCTG	0.428		NaN											0	0	0	0.203993	0	36	19				
LMLN	89782	broad.mit.edu	37	3	197712742	197712742	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:197712742C>T	uc011buo.1	+	8	932	c.910C>T	c.(910-912)CTC>TTC	p.L304F	LMLN_uc003fyt.2_Missense_Mutation_p.L252F|LMLN_uc010iar.2_Missense_Mutation_p.L304F|LMLN_uc010ias.2_Missense_Mutation_p.L252F|LMLN_uc003fyu.2_Missense_Mutation_p.L64F	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	304					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGCAGATGGCCTCCCACCTTT	0.378		NaN											0	0	0	0.189662	0	17	10				
ACOX3	8310	broad.mit.edu	37	4	8412072	8412072	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:8412072A>G	uc010idk.2	-	6	699	c.554T>C	c.(553-555)ATA>ACA	p.I185T	ACOX3_uc003glc.3_Missense_Mutation_p.I185T|ACOX3_uc003gld.3_Missense_Mutation_p.I185T|ACOX3_uc003gle.1_Missense_Mutation_p.I90T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	185					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						AGGGGAATGTATGATGAATTC	0.438		NaN											0	0	0	0.116897	0	27	16				
C4orf14	84273	broad.mit.edu	37	4	57842668	57842668	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:57842668C>T	uc003hck.2	-	1	1159	c.1084G>A	c.(1084-1086)GAT>AAT	p.D362N	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	362							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					GTGCAGTAATCGGACTCCAGG	0.607		NaN											0	0	0	0.105934	0	14	14				
HSD17B11	51170	broad.mit.edu	37	4	88312220	88312220	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:88312220C>T	uc003hqp.2	-	1	236	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	1					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GAAGAAATTTCATCCCTTTTG	0.428		NaN											0	0	0	0.09319	0	13	9				
SDHA	6389	broad.mit.edu	37	5	236602	236602	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:236602G>A	uc003jao.3	+	10	1435	c.1320G>A	c.(1318-1320)GAG>GAA	p.E440E	SDHA_uc011clv.1_Silent_p.E440E|SDHA_uc011clw.1_Silent_p.E392E|SDHA_uc003jap.3_Silent_p.E440E|SDHA_uc003jaq.3_Silent_p.E215E|SDHA_uc003jar.3_Silent_p.E34E	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	440		FAD (By similarity).			nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGGGGAGGCCGCCTGTG	0.592		NaN							Familial_Paragangliomas				0	0	0	0.189662	0	20	47				
SLC6A3	6531	broad.mit.edu	37	5	1406324	1406324	+	Silent	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:1406324C>A	uc003jck.2	-	12	1699	c.1578G>T	c.(1576-1578)CTG>CTT	p.L526L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	526	Helical; Name=11; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGGGCTGACCAGCTTCCAGC	0.672		NaN											1	0	2.42023e-17	0.183431	2.73094e-17	36	52				
GDNF	2668	broad.mit.edu	37	5	37834771	37834771	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:37834771G>A	uc011cpi.1	-	2	328	c.128C>T	c.(127-129)GCG>GTG	p.A43V	GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Intron|GDNF_uc011cpe.1_Intron|GDNF_uc011cpf.1_Intron|GDNF_uc011cpg.1_Missense_Mutation_p.A60V|GDNF_uc011cph.1_Intron	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	43					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					CGCGAAGGGCGCGCGGCGGCG	0.657		NaN											0	0	0	0.115264	0	3	16				
GPR98	84059	broad.mit.edu	37	5	89990019	89990019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:89990019C>A	uc003kju.2	+	33	7542	c.7446C>A	c.(7444-7446)TAC>TAA	p.Y2482*	GPR98_uc003kjt.2_Nonsense_Mutation_p.Y188*|GPR98_uc003kjv.2_Nonsense_Mutation_p.Y82*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2482	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGACCTACAGGAAAAACA	0.493		NaN											1	0	0.000157383	0.038147	0.000160262	8	47				
REEP5	7905	broad.mit.edu	37	5	112257852	112257852	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:112257852G>A	uc003kqe.1	-	1	180	c.36C>T	c.(34-36)TTC>TTT	p.F12F	REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.F12F|REEP5_uc011cvz.1_RNA	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	12						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCTCGTGCAGGAACCGGTCGA	0.647		NaN											0	0	0	0.184627	0	5	21				
PSD2	84249	broad.mit.edu	37	5	139193876	139193876	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:139193876C>G	uc003leu.1	+	4	1148	c.943C>G	c.(943-945)CAT>GAT	p.H315D		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	315	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCTCATCGGCTGGC	0.647		NaN											0	0	0	0.219247	0	22	38				
PCDHA2	56146	broad.mit.edu	37	5	140176494	140176494	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140176494G>A	uc003lhd.2	+	1	2051	c.1945G>A	c.(1945-1947)GTG>ATG	p.V649M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V649M|PCDHA2_uc011czy.1_Missense_Mutation_p.V649M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	649	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTACTCGTGCTGGTGAA	0.652		NaN											0	0	0	0.11911	0	15	68				
PCDHB1	29930	broad.mit.edu	37	5	140431567	140431567	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140431567C>A	uc003lik.1	+	1	589	c.512C>A	c.(511-513)ACC>AAC	p.T171N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	171	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACTACACCCTGAGTGCC	0.567		NaN											1	0	7.93312e-07	0.11911	8.33227e-07	12	75				
PCDHGA12	26025	broad.mit.edu	37	5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140811312C>T	uc003lkt.1	+	1	1155	c.986C>T	c.(985-987)GCG>GTG	p.A329V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A329V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	329	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507		NaN											0	0	0	0.139131	0	50	71				
PWWP2A	114825	broad.mit.edu	37	5	159520621	159520621	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:159520621A>G	uc011ded.1	-	2	1093	c.1036T>C	c.(1036-1038)TCT>CCT	p.S346P	PWWP2A_uc003lxv.3_Missense_Mutation_p.S346P|PWWP2A_uc011dec.1_Missense_Mutation_p.S346P	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	346											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATATTTAGAAGAGTCAGTT	0.328		NaN											0	0	0	0.047766	0	9	32				
SH3PXD2B	285590	broad.mit.edu	37	5	171773245	171773245	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:171773245C>T	uc003mbr.2	-	12	1254	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	361					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCGGCTTCGGCAGGTTGA	0.597		NaN											0	0	0	0.26419	0	25	105				
SQSTM1	8878	broad.mit.edu	37	5	179263587	179263587	+	Silent	SNP	G	G	A	rs11548636		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:179263587G>A	uc003mkw.3	+	8	1412	c.1317G>A	c.(1315-1317)CCG>CCA	p.P439P	SQSTM1_uc011dgr.1_Silent_p.P355P|SQSTM1_uc011dgs.1_Silent_p.P355P|SQSTM1_uc003mkv.3_Missense_Mutation_p.R356H|SQSTM1_uc003mkx.2_Silent_p.P355P	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	439	Interaction with NTRK1 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCCGCCGTTGTGACCAC	0.542		NaN							Paget_Disease_of_Bone				0	0	0	0.139131	0	48	56				
BTNL9	153579	broad.mit.edu	37	5	180486555	180486555	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:180486555C>T	uc003mmt.2	+	11	1532	c.1301C>T	c.(1300-1302)GCC>GTC	p.A434V		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	434	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGTCCTGGCCCCGCACCGC	0.741		NaN											0	0	0	0.146539	0	16	17				
RANBP9	10048	broad.mit.edu	37	6	13639851	13639851	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:13639851T>C	uc003nbb.2	-	9	1528	c.1469A>G	c.(1468-1470)CAT>CGT	p.H490R	RANBP9_uc003nba.2_Missense_Mutation_p.H149R	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	490					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATTCATTCCATGGCTGGGGCT	0.403		NaN											0	0	0	0.173368	0	33	45				
MICB	4277	broad.mit.edu	37	6	31477644	31477644	+	Silent	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:31477644G>C	uc003ntn.3	+	6	1226	c.1110G>C	c.(1108-1110)CTG>CTC	p.L370L	MICB_uc011dnm.1_Silent_p.L338L|MICB_uc003nto.3_Silent_p.L327L	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	370	Cytoplasmic (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						TTCAGCCTCTGATGTCAGCTA	0.577		NaN											0	0	0	0.203993	0	39	54				
FTSJD2	23070	broad.mit.edu	37	6	37429339	37429339	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:37429339G>A	uc003ons.2	+	11	1363	c.1110G>A	c.(1108-1110)GAG>GAA	p.E370E	FTSJD2_uc010jwu.2_Silent_p.E314E	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	370					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	p.E370D(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TCTCGGTGGAGGGGCAGGAGA	0.512		NaN											0	0	0	0.184627	0	5	31				
MRPS10	55173	broad.mit.edu	37	6	42179605	42179605	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:42179605C>G	uc003osa.3	-	4	283	c.237G>C	c.(235-237)TTG>TTC	p.L79F	MRPS10_uc011dup.1_Missense_Mutation_p.L38F	NM_018141	NP_060611	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	79					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome				0	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GACCTTTCACCAAAACCGAGA	0.363		NaN											0	0	0	0.108266	0	28	48				
HNRNPA2B1	3181	broad.mit.edu	37	7	26237281	26237281	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:26237281C>T	uc003sxr.3	-	3	330	c.114G>A	c.(112-114)AGG>AGA	p.R38R	HNRNPA2B1_uc003sxs.3_Silent_p.R26R	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	38	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CGTAGTAGTTCCTCAAACTTT	0.353		NaN	T	ETV1	prostate								0	0	0	0.160694	0	15	54				
GLI3	2737	broad.mit.edu	37	7	42005031	42005031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:42005031G>A	uc011kbh.1	-	15	3731	c.3640C>T	c.(3640-3642)CAG>TAG	p.Q1214*	GLI3_uc011kbg.1_Nonsense_Mutation_p.Q1155*	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1214					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CCGAGGGTCTGATAGCCCCCA	0.652		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.124865	0	47	69				
CCM2	83605	broad.mit.edu	37	7	45108111	45108111	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:45108111C>A	uc003tmo.2	+	5	688	c.542C>A	c.(541-543)TCC>TAC	p.S181Y	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S123Y|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Missense_Mutation_p.S144Y|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.S202Y	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	181	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						AGTGCAGGCTCCCTGTCGGAG	0.592		NaN							Familial_Cerebral_Cavernous_Angioma				1	0	6.1207e-33	0.131918	7.00107e-33	46	62				
POM121L12	285877	broad.mit.edu	37	7	53103824	53103824	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:53103824C>T	uc003tpz.2	+	1	476	c.460C>T	c.(460-462)CCT>TCT	p.P154S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	154											0						CTGGAGATCCCCTGGACAGAG	0.592		NaN											0	0	0	0.09319	0	13	27				
MAGI2	9863	broad.mit.edu	37	7	78130897	78130897	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:78130897A>G	uc003ugx.2	-	5	1216	c.962T>C	c.(961-963)ATT>ACT	p.I321T	MAGI2_uc003ugy.2_Missense_Mutation_p.I321T|MAGI2_uc011kgr.1_Missense_Mutation_p.I153T|MAGI2_uc011kgs.1_Missense_Mutation_p.I158T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	321	WW 1.|Interaction with DDN.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AACTCACTCAATGAAGTAGAC	0.388		NaN											0	0	0	0.146539	0	17	67				
PCLO	27445	broad.mit.edu	37	7	82580339	82580339	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:82580339C>T	uc003uhx.2	-	6	9854	c.9565G>A	c.(9565-9567)GAA>AAA	p.E3189K	PCLO_uc003uhv.2_Missense_Mutation_p.E3189K|PCLO_uc010lec.2_Missense_Mutation_p.E154K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3120					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGAAACACTTCGGATGCTGTG	0.443		NaN											0	0	0	0.080935	0	12	18				
ADAM22	53616	broad.mit.edu	37	7	87762258	87762258	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:87762258G>A	uc003ujn.2	+	12	1148	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	ADAM22_uc003ujk.1_Missense_Mutation_p.V357M|ADAM22_uc003ujl.1_Missense_Mutation_p.V357M|ADAM22_uc003ujm.2_Missense_Mutation_p.V357M|ADAM22_uc003ujo.2_Missense_Mutation_p.V357M|ADAM22_uc003ujp.1_Missense_Mutation_p.V409M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	357	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGGAGGCGTGAATGAAGT	0.398		NaN											0	0	0	0.248553	0	5	70				
ACTL6B	51412	broad.mit.edu	37	7	100244899	100244899	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:100244899G>A	uc003uvy.2	-	9	875	c.768C>T	c.(766-768)ATC>ATT	p.I256I	ACTL6B_uc003uvx.1_Silent_p.I47I|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	256					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAAGTCCTGGATCACCTCCT	0.672		NaN											0	0	0	0.249174	0	22	23				
GPR37	2861	broad.mit.edu	37	7	124386891	124386891	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:124386891G>C	uc003vli.2	-	2	2181	c.1530C>G	c.(1528-1530)ATC>ATG	p.I510M		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	510	Helical; Name=6; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CAATGTTGCAGATATTTTCAG	0.418		NaN											0	0	0	0.234183	0	22	72				
ZNF862	643641	broad.mit.edu	37	7	149558351	149558351	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:149558351T>C	uc010lpn.2	+	7	2294	c.2102T>C	c.(2101-2103)ATG>ACG	p.M701T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GGCTCAGCCATGTTGAGCTGC	0.632		NaN											0	0	0	0.115264	0	3	11				
NUB1	51667	broad.mit.edu	37	7	151042482	151042482	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:151042482G>T	uc003wjx.2	+	2	124	c.119G>T	c.(118-120)AGG>ATG	p.R40M	NUB1_uc011kvi.1_Missense_Mutation_p.R40M|NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Missense_Mutation_p.R16M|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	16					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGTTTTTAAGGGAAGACAGG	0.303		NaN											1	0	2.17888e-05	0.058154	2.24613e-05	9	21				
SGK223	157285	broad.mit.edu	37	8	8235550	8235550	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:8235550C>T	uc003wsh.3	-	2	369	c.369G>A	c.(367-369)CCG>CCA	p.P123P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	123							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCTCCTGCTTCGGGAGGGGGA	0.552		NaN											0	0	0	0.203993	0	36	19				
TEX15	56154	broad.mit.edu	37	8	30702216	30702216	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:30702216C>A	uc003xil.2	-	1	4318	c.4318G>T	c.(4318-4320)GAT>TAT	p.D1440Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1440										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACATTATCTTTTAAAAGC	0.348		NaN											1	0	0.000157383	0.038147	0.000160262	8	28				
PRKDC	5591	broad.mit.edu	37	8	48690396	48690396	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:48690396G>A	uc003xqi.2	-	85	11950	c.11893C>T	c.(11893-11895)CGC>TGC	p.R3965C	PRKDC_uc003xqj.2_Missense_Mutation_p.R3934C|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3965	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAAACTGGCGAGTTAGCCGA	0.483		NaN						NHEJ					0	0	0	0.105934	0	14	73				
SHB	6461	broad.mit.edu	37	9	37955959	37955959	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:37955959G>C	uc004aax.2	-	4	1715	c.1147C>G	c.(1147-1149)CCT>GCT	p.P383A		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	383	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGTTTGATAGGCTTAAAGCCC	0.597		NaN											0	0	0	0.184627	0	5	2				
KIAA0368	23392	broad.mit.edu	37	9	114151916	114151916	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:114151916G>T	uc004bfe.1	-	32	3901	c.3901C>A	c.(3901-3903)CGT>AGT	p.R1301S		NM_001080398	NP_001073867			KIAA0368 protein												0						AACTGGTAACGATAAAGTCGA	0.453		NaN											1	0	2.23348e-06	0.146539	2.31672e-06	17	23				
SLC46A2	57864	broad.mit.edu	37	9	115652599	115652599	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:115652599G>A	uc004bgk.2	-	1	595	c.363C>T	c.(361-363)CTC>CTT	p.L121L		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	121	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GCAGCAGCCCGAGGCGGGAGA	0.677		NaN											0	0	0	0.099896	0	28	12				
ARHGAP6	395	broad.mit.edu	37	X	11206894	11206894	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:11206894G>A	uc004cup.1	-	4	1904	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S344L|ARHGAP6_uc004cum.1_Missense_Mutation_p.S141L|ARHGAP6_uc004cun.1_Missense_Mutation_p.S164L|ARHGAP6_uc010neb.1_Missense_Mutation_p.S166L|ARHGAP6_uc011mif.1_Missense_Mutation_p.S141L	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	344	SH3-binding.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TGGGGACGTTGACTCATTCGG	0.498		NaN											0	0	0	0.204396	0	19	40				
FAM47B	170062	broad.mit.edu	37	X	34960988	34960988	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:34960988G>A	uc004ddi.1	+	1	58	c.40G>A	c.(40-42)GGC>AGC	p.G14S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	14										ovary(3)|breast(1)	4						AAGGTCCCAAGGCATGGACTC	0.622		NaN											0	0	0	0.184627	0	5	20				
SPIN4	139886	broad.mit.edu	37	X	62570455	62570455	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:62570455C>G	uc004dvf.2	-	1	764	c.244G>C	c.(244-246)GAT>CAT	p.D82H		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	82					gamete generation					ovary(1)|lung(1)	2						TACACACTATCTTTGCCATCA	0.498		NaN											0	0	0	0.150653	0	4	17				
MED12	9968	broad.mit.edu	37	X	70349240	70349240	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:70349240G>A	uc004dyy.2	+	26	3851	c.3652G>A	c.(3652-3654)GGA>AGA	p.G1218R	MED12_uc011mpq.1_Missense_Mutation_p.G1218R|MED12_uc004dyz.2_Missense_Mutation_p.G1218R|MED12_uc004dza.2_Missense_Mutation_p.G1065R|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1218					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CATCGTGGATGGAGCCGTGTT	0.577		NaN									OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.248553	0	7	20				
SMARCA1	6594	broad.mit.edu	37	X	128638781	128638781	+	Splice_Site	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:128638781T>C	uc004eun.3	-	9	1212	c.1099_splice	c.e9-1	p.D367_splice	SMARCA1_uc004eup.3_Splice_Site_p.D367_splice|SMARCA1_uc011muk.1_Splice_Site_p.D367_splice|SMARCA1_uc011mul.1_Splice_Site_p.D367_splice	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						ATCAAAGTCCTGTAGAGGGGT	0.343		NaN											0	0	0	0.083992	0	26	36				
CETN2	1069	broad.mit.edu	37	X	151997114	151997114	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:151997114C>A	uc004fgq.2	-	4	443	c.396G>T	c.(394-396)GAG>GAT	p.E132D	CETN2_uc004fgr.2_Missense_Mutation_p.E61D|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	caltractin	132	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCACCCAACTCCTTGGCCA	0.418		NaN						Direct_reversal_of_damage|NER					1	0	1.68575e-08	0.125774	1.79313e-08	28	35				
ACAP3	116983	broad.mit.edu	37	1	1233261	1233261	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:1233261C>T	uc001aeb.2	-	14	1143	c.1069G>A	c.(1069-1071)GCT>ACT	p.A357T	ACAP3_uc001ady.2_Missense_Mutation_p.A87T|ACAP3_uc001aea.2_Missense_Mutation_p.A315T	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	357	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						GCCTGCACAGCCTGGACCCAG	0.687		NaN											0	0	0	0.007413	0	18	22				
RER1	11079	broad.mit.edu	37	1	2327262	2327262	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:2327262C>T	uc001aje.1	+	2	224	c.33C>T	c.(31-33)GTC>GTT	p.V11V	RER1_uc001ajf.1_Silent_p.V11V	NM_007033	NP_008964	O15258	RER1_HUMAN	RER1 retention in endoplasmic reticulum 1	11					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane					0	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GAGAATCCGTCCATGGGAAAC	0.418		NaN											0	0	0	0.004482	0	8	37				
MTHFR	4524	broad.mit.edu	37	1	11854051	11854051	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:11854051G>A	uc001atc.1	-	9	1627	c.1443C>T	c.(1441-1443)ACC>ACT	p.T481T	MTHFR_uc001atb.1_Silent_p.T504T	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	481					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GTGAGTTGATGGTGAGGATGC	0.652		NaN											0	0	0	0.007291	0	26	61				
WDTC1	23038	broad.mit.edu	37	1	27623546	27623546	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:27623546G>C	uc009vst.2	+	11	1492	c.957G>C	c.(955-957)CAG>CAC	p.Q319H	WDTC1_uc001bno.2_Missense_Mutation_p.Q318H|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'UTR	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	319							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGAAGTCCAGAATGGCAAGA	0.463		NaN									OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	45				
USP24	23358	broad.mit.edu	37	1	55638085	55638085	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:55638085G>C	uc001cyg.3	-	3	331	c.331C>G	c.(331-333)CCA>GCA	p.P111A		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	223					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GTGGGAATTGGATCTTGTTTT	0.358		NaN											0	0	0	0.014758	0	4	13				
C8A	731	broad.mit.edu	37	1	57351743	57351743	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:57351743C>T	uc001cyo.2	+	7	1131	c.999C>T	c.(997-999)TTC>TTT	p.F333F		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	333	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ATGCCAAGTTCATCAATGACT	0.398		NaN											0	0	0	0.014323	0	24	38				
ATXN7L2	127002	broad.mit.edu	37	1	110029160	110029160	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029160G>A	uc001dxr.2	+	3	241	c.226G>A	c.(226-228)GAT>AAT	p.D76N	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	76										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCTGCCCATGATGACTTCTA	0.542		NaN											0	0	0	0.016723	0	13	24				
ATXN7L2	127002	broad.mit.edu	37	1	110029717	110029717	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029717G>C	uc001dxr.2	+	4	402	c.387G>C	c.(385-387)GTG>GTC	p.V129V	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	129										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATGTAGTGAATGGGCAGG	0.637		NaN											0	0	0	0.00308	0	8	7				
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:120510124G>C	uc001eik.2	-	8	1641	c.1385C>G	c.(1384-1386)TCA>TGA	p.S462*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.S462*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.S379*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	462	Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.016723	0	14	72				
C1orf104	284618	broad.mit.edu	37	1	155290718	155290718	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:155290718C>T	uc001fki.2	-	2	839	c.562G>A	c.(562-564)GGG>AGG	p.G188R	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	188											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCTGTGCCCCGCCGGGCGGG	0.726		NaN											0	0	0	0.004672	0	3	11				
VSIG8	391123	broad.mit.edu	37	1	159825827	159825827	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:159825827G>A	uc001fuh.2	-	6	953	c.817C>T	c.(817-819)CTG>TTG	p.L273L	C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	273	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)					AGCGCGAGCAGAGAGCCCAGG	0.468		NaN											0	0	0	0.006214	0	8	8				
PRG4	10216	broad.mit.edu	37	1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:186276451A>C	uc001gru.3	+	7	1651	c.1600A>C	c.(1600-1602)ACC>CCC	p.T534P	PRG4_uc001grt.3_Missense_Mutation_p.T493P|PRG4_uc009wyl.2_Missense_Mutation_p.T441P|PRG4_uc009wym.2_Missense_Mutation_p.T400P|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	534	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|24; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCACCACTACCAAGGAGCC	0.632		NaN											0	0	0	0.013537	0	7	51				
CFH	3075	broad.mit.edu	37	1	196697596	196697596	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:196697596G>T	uc001gtj.3	+	15	2597	c.2357G>T	c.(2356-2358)GGA>GTA	p.G786V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	786	Sushi 13.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GGAAAAGAAGGATGGATACAC	0.318		NaN											1	0	0.000442599	0.006214	0.000452892	9	25				
CR1L	1379	broad.mit.edu	37	1	207850763	207850763	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:207850763T>A	uc001hga.3	+	2	248	c.127T>A	c.(127-129)TTT>ATT	p.F43I	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	43	Sushi 1.					cytoplasm|extracellular region|membrane					0						ATGGCTTCCATTTGCCAGGCC	0.413		NaN											0	0	0	0.004482	0	8	61				
KCNH1	3756	broad.mit.edu	37	1	211192470	211192470	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:211192470G>A	uc001hib.2	-	6	857	c.687C>T	c.(685-687)TTC>TTT	p.F229F	KCNH1_uc001hic.2_Silent_p.F229F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	229	Helical; Name=Segment S1; (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCTGTATAGAAGGTCAAGA	0.438		NaN											0	0	0	0.006122	0	18	33				
CAPN9	10753	broad.mit.edu	37	1	230903408	230903408	+	Silent	SNP	C	C	T	rs147002278		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:230903408C>T	uc001htz.1	+	5	771	c.658C>T	c.(658-660)CTA>TTA	p.L220L	CAPN9_uc009xfg.1_Silent_p.L157L|CAPN9_uc001hua.1_Silent_p.L220L	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	220	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTATGAGATTCTAGAGAAGGC	0.547		NaN											0	0	0	0.004007	0	15	65				
TUBAL3	79861	broad.mit.edu	37	10	5437320	5437320	+	Silent	SNP	G	G	A	rs144348755		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:5437320G>A	uc001ihy.2	-	3	406	c.366C>T	c.(364-366)ATC>ATT	p.I122I	TUBAL3_uc001ihz.2_Silent_p.I82I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	122					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						GCACAAGGTCGATGACCTCCG	0.622		NaN											0	0	0	0.009718	0	42	67				
NRP1	8829	broad.mit.edu	37	10	33469270	33469270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:33469270C>T	uc001iwx.3	-	17	3029	c.2506G>A	c.(2506-2508)GAA>AAA	p.E836K	NRP1_uc001iwv.3_Missense_Mutation_p.E819K|NRP1_uc009xlz.2_Missense_Mutation_p.E830K|NRP1_uc001iww.3_Missense_Mutation_p.E648K|NRP1_uc001iwy.3_Missense_Mutation_p.E829K	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	836	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTTCTCCTTCACCTTCGTAT	0.488		NaN											0	0	0	0.01441	0	50	73				
RBP3	5949	broad.mit.edu	37	10	48388414	48388414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:48388414C>T	uc001jez.2	-	1	2578	c.2464G>A	c.(2464-2466)GAG>AAG	p.E822K		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	822	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GTCCACACCTCCGTGACTTTT	0.617		NaN											0	0	0	0.014758	0	4	33				
ADAMTS14	140766	broad.mit.edu	37	10	72496495	72496495	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:72496495C>T	uc001jrh.2	+	10	1545	c.1545C>T	c.(1543-1545)TTC>TTT	p.F515F	ADAMTS14_uc001jrg.2_Silent_p.F518F|ADAMTS14_uc001jri.1_Silent_p.F38F	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	515	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						ACCCGTACTTCTGCAAGACCA	0.622		NaN											0	0	0	0.016522	0	21	26				
ANKRD1	27063	broad.mit.edu	37	10	92672725	92672725	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:92672725C>A	uc001khe.1	-	9	1106	c.858G>T	c.(856-858)AAG>AAT	p.K286N		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	286	ANK 5.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				CCATCGGCGTCTTCCCAGCCT	0.448		NaN											1	0	7.11191e-15	0.013726	7.72652e-15	34	49				
NFKB2	4791	broad.mit.edu	37	10	104156527	104156527	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:104156527G>A	uc001kvb.2	+	5	455	c.190G>A	c.(190-192)GGA>AGA	p.G64R	NFKB2_uc001kva.2_Missense_Mutation_p.G64R|NFKB2_uc010qqk.1_Missense_Mutation_p.G64R|NFKB2_uc001kvd.2_Missense_Mutation_p.G64R|NFKB2_uc009xxc.2_Missense_Mutation_p.G64R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	64	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTCCCATGGAGGACTGCCCGG	0.592		NaN	T	IGH@	B-NHL								0	0	0	0.001984	0	6	76				
NAP1L4	4676	broad.mit.edu	37	11	2975819	2975819	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:2975819C>T	uc001lxc.2	-	12	1114	c.973G>A	c.(973-975)GAG>AAG	p.E325K	NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.E325K|NAP1L4_uc010qxn.1_Missense_Mutation_p.E325K	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	325					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ACTATCCGCTCACGGAAAAAG	0.483		NaN											0	0	0	0.010729	0	11	30				
C11orf40	143501	broad.mit.edu	37	11	4593489	4593489	+	Missense_Mutation	SNP	G	G	C	rs141444146		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:4593489G>C	uc010qyg.1	-	3	344	c.344C>G	c.(343-345)TCT>TGT	p.S115C		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	hypothetical protein LOC143501	115										ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGGAAATAGAGATTCCACT	0.458		NaN											0	0	0	0.013537	0	11	27				
FOLH1	2346	broad.mit.edu	37	11	49175904	49175904	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:49175904G>T	uc001ngy.2	-	16	2025	c.1764C>A	c.(1762-1764)GCC>GCA	p.A588A	FOLH1_uc001ngx.2_Silent_p.A20A|FOLH1_uc001ngz.2_Silent_p.A588A|FOLH1_uc009yly.2_Silent_p.A573A|FOLH1_uc009ylz.2_Silent_p.A573A|FOLH1_uc009yma.2_Silent_p.A280A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	588	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTATGGAATTGGCTAGCTCAA	0.383		NaN											1	0	2.27111e-07	0.013537	2.40792e-07	7	42				
OR5D18	219438	broad.mit.edu	37	11	55587651	55587651	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:55587651C>G	uc010rin.1	+	1	546	c.546C>G	c.(544-546)TTC>TTG	p.F182L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TCTGTGAGTTCTCCTCACTAC	0.428		NaN											0	0	0	0.008361	0	29	76				
TNKS1BP1	85456	broad.mit.edu	37	11	57080172	57080172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57080172C>G	uc001njr.2	-	4	2302	c.1990G>C	c.(1990-1992)GAG>CAG	p.E664Q	TNKS1BP1_uc001njs.2_Missense_Mutation_p.E664Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.E115Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	664	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TCTTGAGCCTCTGTCCTGGCT	0.642		NaN											0	0	0	0.016723	0	13	29				
UBE2L6	9246	broad.mit.edu	37	11	57327878	57327878	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57327878G>T	uc001nkn.1	-	2	151	c.55C>A	c.(55-57)CCC>ACC	p.P19T	UBE2L6_uc001nko.1_5'UTR	NM_004223	NP_004214	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	19					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						AGGTATGGGGGAGGCTTCTTC	0.592		NaN											1	0	1.3612e-06	0.003163	1.42602e-06	16	64				
STIP1	10963	broad.mit.edu	37	11	63970354	63970354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:63970354G>A	uc001nyk.1	+	11	1399	c.1252G>A	c.(1252-1254)GAG>AAG	p.E418K	STIP1_uc010rnb.1_Missense_Mutation_p.E394K	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	418	TPR 8.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						CTAGGACTGTGAGGAATGTAT	0.483		NaN											0	0	0	0.01892	0	23	68				
PLCB3	5331	broad.mit.edu	37	11	64022383	64022383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:64022383G>A	uc001nzb.2	+	4	260	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	PLCB3_uc009ypg.1_Missense_Mutation_p.R87Q|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Missense_Mutation_p.R87Q	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	87					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CCCAAGATCCGGGAAGTTCTG	0.607		NaN											0	0	0	0.004672	0	3	29				
AIP	9049	broad.mit.edu	37	11	67257650	67257650	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:67257650G>A	uc001olv.2	+	4	735	c.610G>A	c.(610-612)GAT>AAT	p.D204N		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	204	TPR 1.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0						CAAGTACTACGATGCCATTGC	0.607		NaN							Familial_Isolated_Pituitary_Adenoma_				0	0	0	0.013537	0	10	23				
SHANK2	22941	broad.mit.edu	37	11	70319408	70319408	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:70319408G>A	uc001oqc.2	-	22	5194	c.5116C>T	c.(5116-5118)CGT>TGT	p.R1706C	SHANK2_uc010rqn.1_Missense_Mutation_p.R1118C|SHANK2_uc001opz.2_Missense_Mutation_p.R1111C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.R42C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1327					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGGGCACGTCTTGTTCCT	0.642		NaN											0	0	0	0.014758	0	5	46				
MOGAT2	80168	broad.mit.edu	37	11	75442218	75442218	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:75442218G>A	uc010rru.1	+	6	892	c.892G>A	c.(892-894)GAG>AAG	p.E298K	MOGAT2_uc010rrv.1_Missense_Mutation_p.E216K	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	298					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					GCATCCCTCGGAGGAGGAGGT	0.567		NaN											0	0	0	0.00499	0	18	39				
PANX1	24145	broad.mit.edu	37	11	93911662	93911662	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:93911662A>G	uc001per.2	+	3	834	c.449A>G	c.(448-450)TAC>TGC	p.Y150C	PANX1_uc001peq.2_Missense_Mutation_p.Y150C	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	150	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACAAAGTTTACAACCGTGCA	0.498		NaN											0	0	0	0.013537	0	13	47				
PHLDB1	23187	broad.mit.edu	37	11	118516477	118516477	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:118516477G>C	uc001ptr.1	+	18	3794	c.3441G>C	c.(3439-3441)AAG>AAC	p.K1147N	PHLDB1_uc001pts.2_Missense_Mutation_p.K1147N|PHLDB1_uc001ptt.2_Missense_Mutation_p.K1100N|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.K962N|PHLDB1_uc001ptw.1_Missense_Mutation_p.K502N|PHLDB1_uc009zai.1_Missense_Mutation_p.K183N|PHLDB1_uc001ptx.1_Missense_Mutation_p.K183N|PHLDB1_uc010ryi.1_3'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1147	Potential.										0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACATGGGGAAGATCGAGGAGA	0.612		NaN											0	0	0	0.012319	0	21	46				
PANX3	116337	broad.mit.edu	37	11	124482880	124482880	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:124482880T>C	uc001qah.2	+	2	186	c.186T>C	c.(184-186)TCT>TCC	p.S62S		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	62	Extracellular (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTGCAGGGTCTCCGATCAGCT	0.572		NaN											0	0	0	0.003163	0	15	41				
CHD4	1108	broad.mit.edu	37	12	6691413	6691413	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:6691413C>G	uc001qpo.2	-	30	4569	c.4405G>C	c.(4405-4407)GAG>CAG	p.E1469Q	CHD4_uc001qpn.2_Missense_Mutation_p.E1462Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1494Q|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1469					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCCCCGGCTCACATAAATGC	0.473		NaN											0	0	0	0.008291	0	10	54				
PDE6H	5149	broad.mit.edu	37	12	15131027	15131027	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:15131027G>T	uc001rcr.2	+	2	165	c.81G>T	c.(79-81)AAG>AAT	p.K27N		NM_006205	NP_006196	Q13956	CNCG_HUMAN	phosphodiesterase 6H	27	Arg/Lys-rich (basic).				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			ovary(1)|skin(1)	2						CCAAGTTCAAGCAGAGGCAGA	0.483		NaN											1	0	2.0095e-06	0.001984	2.09687e-06	7	21				
SLCO1B1	10599	broad.mit.edu	37	12	21391927	21391927	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:21391927G>T	uc001req.3	+	15	1984	c.1880G>T	c.(1879-1881)GGC>GTC	p.G627V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	627	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTCTACTTGGGCTTGTCTTCA	0.279		NaN											1	0	0.00307968	0.00308	0.00312706	8	31				
CASC1	55259	broad.mit.edu	37	12	25302597	25302597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:25302597G>C	uc001rgl.2	-	6	614	c.532C>G	c.(532-534)CTT>GTT	p.L178V	CASC1_uc001rgk.2_Missense_Mutation_p.L184V|CASC1_uc001rgm.3_Missense_Mutation_p.L242V|CASC1_uc001rgj.2_Missense_Mutation_p.L138V|CASC1_uc010sje.1_Missense_Mutation_p.L119V|CASC1_uc010sjf.1_Missense_Mutation_p.L66V|CASC1_uc010sjg.1_Missense_Mutation_p.L178V	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	178										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CCGAATTTAAGATGAAGGAGC	0.284		NaN											0	0	0	0.008291	0	10	34				
KITLG	4254	broad.mit.edu	37	12	88900821	88900821	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:88900821C>G	uc001tav.2	-	7	881	c.698G>C	c.(697-699)GGA>GCA	p.G233A	KITLG_uc009zsn.2_Intron|KITLG_uc001taw.2_Missense_Mutation_p.G205A|KITLG_uc009zso.1_RNA	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	233	Helical; (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						GTATAAGGCTCCAAAAGCAAA	0.378		NaN							Testicular_Cancer_Familial_Clustering_of				0	0	0	0.001168	0	5	40				
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:101510519G>C	uc010svm.1	+	25	3085	c.2513G>C	c.(2512-2514)CGA>CCA	p.R838P	ANO4_uc001thw.2_Missense_Mutation_p.R803P|ANO4_uc001thx.2_Missense_Mutation_p.R838P|ANO4_uc001thy.2_Missense_Mutation_p.R358P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	838	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TTTGAGAACCGATCTGAGCCT	0.507		NaN								HNSCC(74;0.22)			0	0	0	0.007291	0	29	87				
MYBPC1	4604	broad.mit.edu	37	12	102060550	102060550	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:102060550T>C	uc001tii.2	+	21	2412	c.2310T>C	c.(2308-2310)AAT>AAC	p.N770N	MYBPC1_uc001tig.2_Intron|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Intron|MYBPC1_uc001tij.2_Intron|MYBPC1_uc010svr.1_Intron|MYBPC1_uc010svs.1_Silent_p.N770N|MYBPC1_uc010svt.1_Intron|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Intron|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	770	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTGATGAAAATGGGGAGGCTG	0.368		NaN											0	0	0	0.013537	0	12	59				
ANAPC7	51434	broad.mit.edu	37	12	110825668	110825668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:110825668C>G	uc001tqo.2	-	5	653	c.652G>C	c.(652-654)GAG>CAG	p.E218Q	ANAPC7_uc001tqp.3_Missense_Mutation_p.E218Q	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						GATGCCACCTCTGCCCCTTTT	0.473		NaN											0	0	0	0.006214	0	9	14				
DNAH10	196385	broad.mit.edu	37	12	124345622	124345622	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:124345622C>T	uc001uft.3	+	38	6484	c.6459C>T	c.(6457-6459)TAC>TAT	p.Y2153Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2153	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGAACTCTACGGCATCCTGG	0.493		NaN											0	0	0	0.010729	0	11	46				
FREM2	341640	broad.mit.edu	37	13	39263186	39263186	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:39263186C>A	uc001uwv.2	+	1	2014	c.1705C>A	c.(1705-1707)CTG>ATG	p.L569M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	569	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAACACGGGGCTGACACTGGC	0.547		NaN											1	0	3.09899e-07	0.004482	3.27253e-07	9	24				
HAUS4	54930	broad.mit.edu	37	14	23419580	23419580	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:23419580C>G	uc001whp.2	-	5	536	c.505G>C	c.(505-507)GAG>CAG	p.E169Q	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Missense_Mutation_p.E169Q|HAUS4_uc001whs.2_Missense_Mutation_p.E124Q|HAUS4_uc001wht.2_Missense_Mutation_p.E169Q|HAUS4_uc001whu.2_Missense_Mutation_p.E124Q|HAUS4_uc001whv.2_Missense_Mutation_p.E45Q|HAUS4_uc001whw.2_Missense_Mutation_p.E169Q|HAUS4_uc001whx.2_Missense_Mutation_p.E124Q	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	169					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						AGCTGCTCCTCTACTTCTTGC	0.358		NaN											0	0	0	0.00308	0	8	26				
KIAA0391	9692	broad.mit.edu	37	14	35592881	35592881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:35592881A>G	uc001wsy.1	+	2	790	c.430A>G	c.(430-432)ATC>GTC	p.I144V	KIAA0391_uc010tps.1_Missense_Mutation_p.I49V|KIAA0391_uc001wsz.1_Missense_Mutation_p.I144V|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.I144V|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	144					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGAAAGTTGGATCATTTCACA	0.398		NaN											0	0	0	0.004482	0	9	64				
SYNE2	23224	broad.mit.edu	37	14	64625483	64625483	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:64625483G>A	uc001xgm.2	+	86	16163	c.15933G>A	c.(15931-15933)GAG>GAA	p.E5311E	SYNE2_uc001xgl.2_Silent_p.E5311E|SYNE2_uc010apy.2_Silent_p.E1696E|SYNE2_uc001xgn.2_Silent_p.E273E|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Silent_p.E40E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5311	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATCATTGGAGACCTTGAGAT	0.433		NaN											0	0	0	0.016723	0	12	25				
STON2	85439	broad.mit.edu	37	14	81744349	81744349	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:81744349C>T	uc010tvu.1	-	4	1507	c.1306G>A	c.(1306-1308)GAG>AAG	p.E436K	STON2_uc001xvk.1_Missense_Mutation_p.E436K|STON2_uc010tvt.1_Missense_Mutation_p.E233K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	436	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTTTTCTTCTCAGGGATCCTC	0.527		NaN											0	0	0	0.01441	0	50	110				
TECPR2	9895	broad.mit.edu	37	14	102898165	102898165	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:102898165G>C	uc001ylw.1	+	8	1265	c.1117G>C	c.(1117-1119)GAG>CAG	p.E373Q	TECPR2_uc010awl.2_Missense_Mutation_p.E373Q|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	373							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TGGATGCTCAGAGCGTGTCCA	0.557		NaN											0	0	0	0.01892	0	25	70				
XRCC3	7517	broad.mit.edu	37	14	104177481	104177481	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:104177481G>C	uc001yny.3	-	4	324	c.-56C>G	c.(-58--54)ATCCA>ATGCA		XRCC3_uc001ynx.3_Translation_Start_Site|XRCC3_uc001ynz.3_Translation_Start_Site|XRCC3_uc001yoa.3_Translation_Start_Site|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3						DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CAGAACAATGGATGCAAATTC	0.527		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.014758	0	5	9				
FMN1	342184	broad.mit.edu	37	15	33192230	33192230	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:33192230C>T	uc001zhf.3	-	10	2935	c.2935G>A	c.(2935-2937)GAT>AAT	p.D979N		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1202	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTATATCCATCGGCTTGTCCC	0.393		NaN											0	0	0	0.009718	0	42	112				
EIF2AK4	440275	broad.mit.edu	37	15	40235658	40235658	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40235658A>G	uc001zkm.1	+	3	382	c.332A>G	c.(331-333)GAA>GGA	p.E111G	EIF2AK4_uc001zkl.2_Missense_Mutation_p.E111G	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	111	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCTCGCCTAGAAGAACTGGCC	0.338		NaN											0	0	0	0.004007	0	15	42				
BMF	90427	broad.mit.edu	37	15	40396430	40396430	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40396430C>T	uc001zkv.2	-	3	490	c.404G>A	c.(403-405)CGA>CAA	p.R135Q	BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.R135Q	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	135	BH3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGAAGCTTTCGGGCAATCTG	0.597		NaN											0	0	0	0.005443	0	28	93				
MGA	23269	broad.mit.edu	37	15	42042440	42042440	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:42042440C>G	uc010ucy.1	+	17	6816	c.6635C>G	c.(6634-6636)TCA>TGA	p.S2212*	MGA_uc010ucz.1_Nonsense_Mutation_p.S2003*|MGA_uc010uda.1_Nonsense_Mutation_p.S828*|MGA_uc001zoi.2_Nonsense_Mutation_p.S426*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2173	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGAAAATTCAGATGTGTTT	0.398		NaN											0	0	0	0.013726	0	31	66				
STRC	161497	broad.mit.edu	37	15	43896298	43896298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:43896298C>T	uc001zsf.2	-	22	4349	c.4271G>A	c.(4270-4272)TGG>TAG	p.W1424*	STRC_uc010bdl.2_Nonsense_Mutation_p.W651*|STRC_uc001zse.2_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1424					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTCCCAGCTCTGCTG	0.582		NaN											0	0	0	0.008291	0	8	27				
DUOX2	50506	broad.mit.edu	37	15	45396470	45396470	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:45396470C>T	uc010bea.2	-	19	2631	c.2428G>A	c.(2428-2430)GAG>AAG	p.E810K	DUOX2_uc001zun.2_Missense_Mutation_p.E810K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	810	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGGCAAACTCGGCCCTGCTC	0.627		NaN											0	0	0	0.016723	0	12	14				
TMC3	342125	broad.mit.edu	37	15	81625286	81625286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:81625286C>T	uc002bgo.1	-	22	2777	c.2777G>A	c.(2776-2778)CGA>CAA	p.R926Q	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	926	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						TGCATATTGTCGCACGTTCCT	0.512		NaN											0	0	0	0.006122	0	17	36				
WDR90	197335	broad.mit.edu	37	16	708543	708543	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:708543G>A	uc002cii.1	+	23	2839	c.2785G>A	c.(2785-2787)GAG>AAG	p.E929K	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E456K|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.E103K|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	929	WD 10.									ovary(1)	1		Hepatocellular(780;0.0218)				TGTCCACCCTGAGCCCTGCCC	0.662		NaN											0	0	0	0.009535	0	29	67				
RBBP6	5930	broad.mit.edu	37	16	24578570	24578570	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:24578570C>T	uc002dmh.2	+	15	2736	c.1696C>T	c.(1696-1698)CCG>TCG	p.P566S	RBBP6_uc010vcb.1_Missense_Mutation_p.P433S|RBBP6_uc002dmi.2_Missense_Mutation_p.P566S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P433S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		tcctttgtatccgcctcctcc	0.299		NaN											0	0	0	0.008871	0	21	84				
NSMCE1	197370	broad.mit.edu	37	16	27246536	27246536	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:27246536C>T	uc002doi.1	-	3	319	c.221G>A	c.(220-222)GGA>GAA	p.G74E	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	74					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						TTCCGTGACTCCTCTCTTTAT	0.493		NaN									OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	10	34				
TAOK2	9344	broad.mit.edu	37	16	29998793	29998793	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:29998793G>A	uc002dva.1	+	16	3983	c.3200G>A	c.(3199-3201)GGC>GAC	p.G1067D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.G1074D|TAOK2_uc002dvd.1_Missense_Mutation_p.G894D	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1067					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GCAGCGGGGGGCAGATGGGTG	0.692		NaN											0	0	0	0.00308	0	6	31				
HSD3B7	80270	broad.mit.edu	37	16	30997087	30997087	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:30997087C>T	uc002eaf.2	+	2	214	c.108C>T	c.(106-108)CTC>CTT	p.L36L	HSD3B7_uc010cac.2_Silent_p.L36L|HSD3B7_uc002eag.2_Silent_p.L36L|HSD3B7_uc002eah.2_Silent_p.L36L	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	36					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						AGCCCCGGCTCGGGGAGCTGC	0.642		NaN											0	0	0	0.014758	0	5	6				
SLC12A3	6559	broad.mit.edu	37	16	56901090	56901090	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:56901090G>A	uc010ccm.2	+	2	420	c.391G>A	c.(391-393)GAG>AAG	p.E131K	SLC12A3_uc002ekd.3_Missense_Mutation_p.E131K|SLC12A3_uc010ccn.2_Missense_Mutation_p.E130K	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	131	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAAGAACCCCGAGGAGCCAGT	0.652		NaN											0	0	0	0.004672	0	3	8				
GINS3	64785	broad.mit.edu	37	16	58438619	58438619	+	Missense_Mutation	SNP	G	G	C	rs144642422		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:58438619G>C	uc002enh.3	+	3	845	c.637G>C	c.(637-639)GAT>CAT	p.D213H	GINS3_uc010cdj.2_Missense_Mutation_p.D252H|GINS3_uc002enj.3_Missense_Mutation_p.D135H|GINS3_uc002eni.3_3'UTR	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	213					DNA replication	nucleus					0						AAAATTCACTGATATGGAAGA	0.478		NaN											0	0	0	0.001984	0	7	19				
PARD6A	50855	broad.mit.edu	37	16	67696467	67696467	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:67696467C>T	uc002ett.2	+	3	1049	c.958C>T	c.(958-960)CTG>TTG	p.L320L	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.L319L|PARD6A_uc002etu.2_Silent_p.L144L	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	320					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGCTCTCTGCCCTCCCT	0.637		NaN											0	0	0	0.010729	0	9	19				
ESRP2	80004	broad.mit.edu	37	16	68264333	68264333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:68264333C>G	uc010cfa.1	-	14	2241	c.2053G>C	c.(2053-2055)GCT>CCT	p.A685P	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.A675P	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	685					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						TTCATACCAGCCGTGTATGGG	0.617		NaN											0	0	0	0.014323	0	24	55				
SGK494	124923	broad.mit.edu	37	17	26940312	26940312	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940312C>G	uc002hbr.1	-	3	408	c.376G>C	c.(376-378)GAT>CAT	p.D126H	SGK494_uc010waq.1_Missense_Mutation_p.D126H|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						TGGGTGCAATCTAGCACCTTG	0.458		NaN									OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.021523	0	23	39				
SGK494	124923	broad.mit.edu	37	17	26940461	26940461	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940461C>T	uc002hbr.1	-	2	353	c.321G>A	c.(319-321)CTG>CTA	p.L107L	SGK494_uc010waq.1_Silent_p.L107L|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						GACTTACCTTCAGCTGCTGCT	0.502		NaN									OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.016522	0	20	41				
KIAA0100	9703	broad.mit.edu	37	17	26942708	26942708	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942708C>A	uc002hbu.2	-	38	6598	c.6499G>T	c.(6499-6501)GAC>TAC	p.D2167Y	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D496Y	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2167						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TTGCGGCTGTCCCTTTTGACA	0.557		NaN											1	0	6.40141e-05	0.010729	6.57577e-05	11	39				
KIAA0100	9703	broad.mit.edu	37	17	26942717	26942717	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942717C>T	uc002hbu.2	-	38	6589	c.6490G>A	c.(6490-6492)GTC>ATC	p.V2164I	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.V493I	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2164						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCCCTTTTGACAGCCATGGCA	0.567		NaN											0	0	0	0.013537	0	13	34				
KIAA0100	9703	broad.mit.edu	37	17	26943203	26943203	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26943203C>T	uc002hbu.2	-	37	6400	c.6301G>A	c.(6301-6303)GAC>AAC	p.D2101N	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D430N	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2101						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TTGTCAATGTCATCCACAGGG	0.478		NaN											0	0	0	0.008291	0	11	28				
KIAA0100	9703	broad.mit.edu	37	17	26945827	26945827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26945827C>G	uc002hbu.2	-	32	5904	c.5805G>C	c.(5803-5805)CAG>CAC	p.Q1935H	KIAA0100_uc002hbt.2_Missense_Mutation_p.Q264H	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1935						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGAGGAACCTCTGCAGTTCTA	0.478		NaN											0	0	0	0.005443	0	24	56				
SUPT6H	6830	broad.mit.edu	37	17	27008291	27008291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27008291C>G	uc002hby.2	+	12	1457	c.1367C>G	c.(1366-1368)TCA>TGA	p.S456*	SUPT6H_uc010crt.2_Nonsense_Mutation_p.S456*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	456					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GATGTCCAATCAATGGATGAG	0.443		NaN											0	0	0	0.010504	0	20	41				
TP53I13	90313	broad.mit.edu	37	17	27895814	27895814	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27895814T>C	uc002hee.2	+	1	76	c.38T>C	c.(37-39)CTG>CCG	p.L13P	ABHD15_uc002hed.1_5'Flank	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	13						cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CTGCTTCTCCTGGCAGCCCTC	0.468		NaN											0	0	0	0.020292	0	13	18				
AP2B1	163	broad.mit.edu	37	17	33966732	33966732	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:33966732G>A	uc002hjr.2	+	11	1579	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	AP2B1_uc002hjq.2_Missense_Mutation_p.E464K|AP2B1_uc010wci.1_Missense_Mutation_p.E426K|AP2B1_uc002hjs.2_Missense_Mutation_p.E407K|AP2B1_uc002hjt.2_Missense_Mutation_p.E464K|AP2B1_uc010ctv.2_Missense_Mutation_p.E464K|AP2B1_uc010wcj.1_Missense_Mutation_p.E201K	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	464					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATGCAGATGAGTTACTAGA	0.438		NaN											0	0	0	0.004007	0	16	50				
AATF	26574	broad.mit.edu	37	17	35310257	35310257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:35310257G>A	uc002hni.2	+	3	606	c.355G>A	c.(355-357)GAG>AAG	p.E119K	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	119	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				GGAATATGATGAGGACGACCT	0.498		NaN											0	0	0	0.013537	0	12	49				
CACNB1	782	broad.mit.edu	37	17	37343111	37343111	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37343111G>A	uc002hrm.1	-	5	639	c.486C>T	c.(484-486)CCC>CCT	p.P162P	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.P162P|CACNB1_uc002hro.2_Silent_p.P162P|CACNB1_uc002hrp.1_Silent_p.P162P|CACNB1_uc010web.1_Silent_p.P115P	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	162					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCAGTTTGACGGGGCTGGGAA	0.592		NaN											0	0	0	0.014323	0	22	40				
FBXL20	84961	broad.mit.edu	37	17	37431242	37431242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37431242G>C	uc010wed.1	-	10	1029	c.808C>G	c.(808-810)CAG>GAG	p.Q270E	FBXL20_uc002hrt.2_Missense_Mutation_p.Q270E|FBXL20_uc010cvu.2_Missense_Mutation_p.Q238E	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	270	LRR 8.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			GGGCAGTTCTGACCTAGAGCA	0.418		NaN											0	0	0	0.010729	0	11	48				
CDK12	51755	broad.mit.edu	37	17	37618889	37618889	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37618889G>A	uc010cvv.2	+	1	1151	c.565G>A	c.(565-567)GAG>AAG	p.E189K	CDK12_uc010wef.1_Missense_Mutation_p.E189K|CDK12_uc002hrw.3_Missense_Mutation_p.E189K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	189					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAAAGAACGGGAGCTGAAGTC	0.502		NaN								TCGA Ovarian(9;0.13)			0	0	0	0.004482	0	8	28				
COASY	80347	broad.mit.edu	37	17	40717318	40717318	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:40717318C>G	uc002hzz.2	+	7	1533	c.1376C>G	c.(1375-1377)GCT>GGT	p.A459G	COASY_uc010cyj.2_Missense_Mutation_p.A488G|COASY_uc002iab.2_Missense_Mutation_p.A164G|COASY_uc002iad.2_Missense_Mutation_p.A459G|COASY_uc002iac.2_Missense_Mutation_p.A459G|COASY_uc002iae.2_Missense_Mutation_p.A254G|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	459	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATGGATCGGGCTGTGGCTGAG	0.577		NaN											0	0	0	0.014758	0	5	94				
ITGA2B	3674	broad.mit.edu	37	17	42463435	42463435	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:42463435A>G	uc002igt.1	-	2	285	c.253T>C	c.(253-255)TTC>CTC	p.F85L		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	85	Extracellular (Potential).|FG-GAP 1.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGGCACAGGAACACGCCGCCC	0.697		NaN											0	0	0	0.004672	0	3	10				
ITGB3	3690	broad.mit.edu	37	17	45387520	45387520	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45387520T>C	uc002ilj.2	+	15	2337	c.2317T>C	c.(2317-2319)TAT>CAT	p.Y773H	ITGB3_uc010wkr.1_Intron	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	773	Cytoplasmic (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CAACCCACTGTATAAAGAGGC	0.448		NaN											0	0	0	0.00499	0	14	35				
KPNB1	3837	broad.mit.edu	37	17	45727754	45727754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45727754C>G	uc002ilt.1	+	2	379	c.43C>G	c.(43-45)CGG>GGG	p.R15G	KPNB1_uc010wkw.1_5'Flank	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	15					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CCCCCTAGATCGGCTGGAGCT	0.721		NaN											0	0	0	0.009096	0	4	12				
MRPL10	124995	broad.mit.edu	37	17	45901691	45901691	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45901691G>C	uc002ilz.2	-	5	692	c.666C>G	c.(664-666)CTC>CTG	p.L222L	OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Silent_p.L183L|MRPL10_uc002ily.2_Silent_p.L232L	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	222					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						GCTGGTGCTGGAGCAGGGAGT	0.607		NaN											0	0	0	0.020292	0	13	42				
ANKFN1	162282	broad.mit.edu	37	17	54526504	54526504	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:54526504G>A	uc002iun.1	+	10	1208	c.1173G>A	c.(1171-1173)CTG>CTA	p.L391L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	391										large_intestine(1)|ovary(1)	2						TGGAAGGTCTGCTGCAGCAGG	0.468		NaN											0	0	0	0.008871	0	17	47				
BCAS3	54828	broad.mit.edu	37	17	59067473	59067473	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:59067473A>G	uc002iyv.3	+	15	1472	c.1363A>G	c.(1363-1365)ATG>GTG	p.M455V	BCAS3_uc010wow.1_Missense_Mutation_p.M242V|BCAS3_uc002iyu.3_Missense_Mutation_p.M455V|BCAS3_uc002iyw.3_Missense_Mutation_p.M451V|BCAS3_uc002iyx.1_Missense_Mutation_p.M270V|BCAS3_uc002iyy.3_Missense_Mutation_p.M226V|BCAS3_uc002iyz.3_Missense_Mutation_p.M9V|BCAS3_uc002iza.3_Missense_Mutation_p.M9V	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	455						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTGAATCGCATGAGCCGTTT	0.512		NaN											0	0	0	0.004007	0	17	38				
LRRC37A3	374819	broad.mit.edu	37	17	62864655	62864655	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:62864655C>G	uc002jey.2	-	9	3510	c.2979_splice	c.e9-1	p.L993_splice	LRRC37A3_uc010wqg.1_Splice_Site_p.L111_splice|LRRC37A3_uc010wqf.1_Splice_Site_p.L31_splice|LRRC37A3_uc010dek.1_Splice_Site	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3							integral to membrane					0						TCCCATGTCTCTGAAGAAGAA	0.353		NaN											0	0	0	0.005443	0	21	69				
NUP85	79902	broad.mit.edu	37	17	73231679	73231679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:73231679G>A	uc002jng.1	+	19	2136	c.1876G>A	c.(1876-1878)GAC>AAC	p.D626N	NUP85_uc010dgd.1_Missense_Mutation_p.D581N|NUP85_uc010wrv.1_Missense_Mutation_p.D580N|NUP85_uc002jnh.1_Missense_Mutation_p.D229N	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	626					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCAGGATGATGACATAGAGAC	0.502		NaN											0	0	0	0.014323	0	19	31				
COLEC12	81035	broad.mit.edu	37	18	346369	346369	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:346369G>A	uc002kkm.2	-	5	1468	c.1253C>T	c.(1252-1254)TCA>TTA	p.S418L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	418	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATAATCACTGATAAGTTGGC	0.378		NaN											0	0	0	0.001984	0	7	53				
MYOM1	8736	broad.mit.edu	37	18	3119940	3119940	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:3119940G>A	uc002klp.2	-	20	3379	c.3045C>T	c.(3043-3045)AAC>AAT	p.N1015N	MYOM1_uc002klq.2_Silent_p.N919N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1015	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCCCAGCCATGTTCATGGCTG	0.502		NaN											0	0	0	0.014758	0	3	4				
LAMA3	3909	broad.mit.edu	37	18	21395492	21395492	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21395492G>C	uc002kuq.2	+	17	2088	c.2002G>C	c.(2002-2004)GAT>CAT	p.D668H	LAMA3_uc002kur.2_Missense_Mutation_p.D668H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	668	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTGTGAAGATGGATATTT	0.453		NaN											0	0	0	0.004482	0	9	36				
LAMA3	3909	broad.mit.edu	37	18	21396406	21396406	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21396406G>T	uc002kuq.2	+	18	2188	c.2102G>T	c.(2101-2103)GGA>GTA	p.G701V	LAMA3_uc002kur.2_Missense_Mutation_p.G701V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	701	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCCCTCGGGAGTGTGCCAG	0.552		NaN											1	0	2.68362e-12	0.013537	2.89174e-12	10	28				
SLC14A2	8170	broad.mit.edu	37	18	43205653	43205653	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:43205653C>G	uc010dnj.2	+	4	477	c.156C>G	c.(154-156)CTC>CTG	p.L52L	SLC14A2_uc002lbb.2_Silent_p.L52L|SLC14A2_uc002lbe.2_Silent_p.L52L	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	52						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						AAAAGGATCTCCGGTCTTCCA	0.468		NaN											0	0	0	0.010729	0	10	20				
ZNF266	10781	broad.mit.edu	37	19	9528554	9528554	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9528554G>A	uc002mll.2	-	2	331	c.65C>T	c.(64-66)TCT>TTT	p.S22F	ZNF266_uc002mlm.2_Missense_Mutation_p.S22F|ZNF266_uc002mln.2_Missense_Mutation_p.S22F|ZNF266_uc002mlo.2_Missense_Mutation_p.S22F|ZNF266_uc010dwp.2_Missense_Mutation_p.S22F|ZNF266_uc010dwq.2_Missense_Mutation_p.S22F	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCAGCCAAGAGATCAGACT	0.433		NaN											0	0	0	0.011902	0	44	89				
ZNF121	7675	broad.mit.edu	37	19	9676748	9676748	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9676748T>A	uc010xkp.1	-	4	1273	c.1041A>T	c.(1039-1041)AAA>AAT	p.K347N	ZNF121_uc010dwt.2_Missense_Mutation_p.K347N|ZNF121_uc010xkq.1_Missense_Mutation_p.K347N	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	zinc finger protein 121	347	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACGGAAGGTTTTCCCACATT	0.388		NaN											0	0	0	0.004007	0	16	36				
ANGPTL6	83854	broad.mit.edu	37	19	10204373	10204373	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10204373T>C	uc002mmx.1	-	4	1065	c.947A>G	c.(946-948)TAT>TGT	p.Y316C	ANGPTL6_uc002mmy.1_Missense_Mutation_p.Y316C	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	316	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCCCACCTTATAGTGCTGCCA	0.607		NaN											0	0	0	0.010729	0	12	57				
ICAM1	3383	broad.mit.edu	37	19	10395527	10395527	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395527C>G	uc002mnq.2	+	6	1568	c.1249C>G	c.(1249-1251)CCA>GCA	p.P417A	ICAM1_uc010xle.1_Missense_Mutation_p.P195A|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	417	Extracellular (Potential).|Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCAGCAGACTCCAATGTGCCA	0.557		NaN											0	0	0	0.003163	0	15	34				
ICAM1	3383	broad.mit.edu	37	19	10395565	10395565	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395565C>G	uc002mnq.2	+	6	1606	c.1287C>G	c.(1285-1287)CTC>CTG	p.L429L	ICAM1_uc010xle.1_Silent_p.L207L|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	429	Extracellular (Potential).|Ig-like C2-type 5.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGCCCGAGCTCAAGTGTCTAA	0.582		NaN											0	0	0	0.016723	0	13	25				
EPOR	2057	broad.mit.edu	37	19	11488763	11488763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:11488763C>T	uc002mrj.1	-	8	1560	c.1424G>A	c.(1423-1425)GGA>GAA	p.G475E	EPOR_uc002mrh.2_Missense_Mutation_p.G134E|EPOR_uc002mri.2_Missense_Mutation_p.G302E|EPOR_uc002mrk.1_Missense_Mutation_p.G302E|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Missense_Mutation_p.G302E	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	475	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CCCTTGGGCTCCCTGGGAGTC	0.592		NaN									OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.013726	0	32	85				
C19orf44	84167	broad.mit.edu	37	19	16614092	16614092	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:16614092T>G	uc002neh.1	+	3	1049	c.976T>G	c.(976-978)TTA>GTA	p.L326V	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L326V|C19orf44_uc002neg.2_Missense_Mutation_p.L326V|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	326											0						CTCAGTGTCTTTAAAGATGGG	0.562		NaN											0	0	0	0.010504	0	21	54				
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:17476312G>A	uc002ngk.1	-	3	1012	c.962C>T	c.(961-963)GCG>GTG	p.A321V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTTCTGTTTCGCCTCCTGACT	0.667		NaN											0	0	0	0.009096	0	4	33				
ZNF208	7757	broad.mit.edu	37	19	22154750	22154750	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:22154750T>C	uc002nqp.2	-	6	2851	c.2702A>G	c.(2701-2703)TAC>TGC	p.Y901C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTGTCTC	0.418		NaN											0	0	0	0.01892	0	24	47				
MAP4K1	11184	broad.mit.edu	37	19	39106878	39106878	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:39106878G>A	uc002oix.1	-	4	378	c.270C>T	c.(268-270)TGC>TGT	p.C90C	MAP4K1_uc002oiy.1_Silent_p.C90C|MAP4K1_uc010xug.1_5'Flank|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	90	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAATTCCATGCAGATCCAGA	0.488		NaN											0	0	0	0.008291	0	10	24				
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:47572355C>T	uc002pga.3	-	14	2430	c.2392G>A	c.(2392-2394)GAG>AAG	p.E798K	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677		NaN											0	0	0	0.00623	0	38	95				
ZNF667	63934	broad.mit.edu	37	19	56953098	56953098	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:56953098C>T	uc002qnd.2	-	5	1428	c.1266G>A	c.(1264-1266)AAG>AAA	p.K422K	ZNF667_uc010etl.2_Silent_p.K204K|ZNF667_uc002qne.2_Silent_p.K422K|ZNF667_uc010etm.2_Silent_p.K365K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	422	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAGAAAACATCTTCCCACATT	0.343		NaN											0	0	0	0.006214	0	10	19				
ZSCAN1	284312	broad.mit.edu	37	19	58564970	58564970	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:58564970C>T	uc002qrc.1	+	6	1025	c.778C>T	c.(778-780)CGC>TGC	p.R260C		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	260					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGAGCGGCCGCCACCAGCC	0.627		NaN											0	0	0	0.001168	0	6	39				
C2orf43	60526	broad.mit.edu	37	2	20901362	20901362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901362C>T	uc002rec.2	-	6	787	c.754G>A	c.(754-756)GAT>AAT	p.D252N	C2orf43_uc002rea.1_Missense_Mutation_p.D252N|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Missense_Mutation_p.D122N|C2orf43_uc010ykc.1_Missense_Mutation_p.D204N|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Missense_Mutation_p.D210N|C2orf43_uc010ykf.1_Missense_Mutation_p.D122N	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	252											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCGTCATCTCTCTTCACC	0.383		NaN											0	0	0	0.013114	0	40	125				
C2orf43	60526	broad.mit.edu	37	2	20901369	20901369	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901369C>T	uc002rec.2	-	6	780	c.747G>A	c.(745-747)GTG>GTA	p.V249V	C2orf43_uc002rea.1_Silent_p.V249V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Silent_p.V119V|C2orf43_uc010ykc.1_Silent_p.V201V|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Silent_p.V207V|C2orf43_uc010ykf.1_Silent_p.V119V	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	249											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTCTCTTCACCACCTCCA	0.373		NaN											0	0	0	0.011902	0	41	127				
NCOA1	8648	broad.mit.edu	37	2	24930108	24930108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:24930108C>G	uc002rfk.2	+	11	2027	c.1769C>G	c.(1768-1770)TCA>TGA	p.S590*	NCOA1_uc010eye.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.S439*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.S590*	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	590	Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATTGCCTCAATTTTAAAT	0.408		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	0.00308	0	7	46				
FAHD2B	151313	broad.mit.edu	37	2	97757424	97757424	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:97757424C>T	uc002sxm.2	-	2	171	c.20G>A	c.(19-21)AGA>AAA	p.R7K		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	7							hydrolase activity|metal ion binding				0						GAGTAATCTTCTTCTACCAGA	0.547		NaN											0	0	0	0.007413	0	20	50				
MYO7B	4648	broad.mit.edu	37	2	128393891	128393891	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:128393891G>C	uc002top.2	+	44	6090	c.6037G>C	c.(6037-6039)GAG>CAG	p.E2013Q	MYO7B_uc002tos.1_Missense_Mutation_p.E123Q|MYO7B_uc002tot.2_Missense_Mutation_p.E123Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	2013	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCTTCTTCGAGGTGAAGGT	0.612		NaN											0	0	0	0.008291	0	11	26				
LRP1B	53353	broad.mit.edu	37	2	141283479	141283479	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:141283479G>T	uc002tvj.1	-	49	8932	c.7960C>A	c.(7960-7962)CTG>ATG	p.L2654M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2654	Extracellular (Potential).|LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGTTGGCAGAACACACAGT	0.403		NaN								TSP Lung(27;0.18)			1	0	3.07112e-06	0.010729	3.19203e-06	12	37				
TTN	7273	broad.mit.edu	37	2	179415741	179415741	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179415741C>A	uc010zfg.1	-	285	84037	c.83813G>T	c.(83812-83814)AGC>ATC	p.S27938I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21633I|TTN_uc010zfi.1_Missense_Mutation_p.S21566I|TTN_uc010zfj.1_Missense_Mutation_p.S21441I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28865							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGGCGGGCTTATAGTTCC	0.388		NaN											1	0	0.000602214	0.014758	0.00061384	5	20				
TTN	7273	broad.mit.edu	37	2	179464145	179464145	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179464145A>T	uc010zfg.1	-	239	48895	c.48671T>A	c.(48670-48672)ATA>AAA	p.I16224K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919K|TTN_uc010zfi.1_Missense_Mutation_p.I9852K|TTN_uc010zfj.1_Missense_Mutation_p.I9727K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17151							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAATTTTATGGGTCCCAC	0.363		NaN											0	0	0	0.013537	0	13	35				
ZSWIM2	151112	broad.mit.edu	37	2	187713754	187713754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:187713754C>G	uc002upu.1	-	1	144	c.104G>C	c.(103-105)CGA>CCA	p.R35P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	35					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GCCCATCTCTCGTAGGAGGTA	0.597		NaN											0	0	0	0.006214	0	10	25				
ICA1L	130026	broad.mit.edu	37	2	203653802	203653802	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:203653802C>G	uc002uzh.1	-	12	1158	c.994G>C	c.(994-996)GAT>CAT	p.D332H	ICA1L_uc002uzi.1_Missense_Mutation_p.D332H	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	332											0						ACAGGTAGATCTTTTGCAACT	0.323		NaN											0	0	0	0.003163	0	14	39				
SGPP2	130367	broad.mit.edu	37	2	223423425	223423425	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:223423425C>G	uc010zlo.1	+	5	1008	c.1008C>G	c.(1006-1008)CTC>CTG	p.L336L	SGPP2_uc010zlp.1_Silent_p.L208L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphotase 2	336	Helical; (Potential).				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|skin(1)	2		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTTGATCCTCTTGGTTCGTC	0.473		NaN											0	0	0	0.020292	0	14	52				
SCG2	7857	broad.mit.edu	37	2	224463700	224463700	+	Missense_Mutation	SNP	C	C	G	rs137998511		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:224463700C>G	uc002vnm.2	-	2	434	c.301G>C	c.(301-303)GAG>CAG	p.E101Q		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	101					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAATCCCTCTCGGGCAAGTGG	0.453		NaN											0	0	0	0.021523	0	26	51				
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:3102035G>A	uc002whw.2	-	3	1420	c.1250C>T	c.(1249-1251)TCG>TTG	p.S417L	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	417						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						ATTACCTGTCGAGCAGTCCAT	0.527		NaN											0	0	0	0.001168	0	6	43				
POFUT1	23509	broad.mit.edu	37	20	30804435	30804435	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:30804435C>T	uc002wxp.2	+	4	502	c.453C>T	c.(451-453)TTC>TTT	p.F151F	POFUT1_uc002wxo.2_Silent_p.F151F|POFUT1_uc010ztt.1_Silent_p.F43F|POFUT1_uc010ztu.1_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	151					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGGCCCATTCTGGGATCAGT	0.507		NaN											0	0	0	0.010504	0	18	71				
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:39990047C>A	uc002xjy.1	-	4	2386	c.2162G>T	c.(2161-2163)AGA>ATA	p.R721I		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CAGGCCCTCTCTGGGCCTCAG	0.672		NaN											1	0	4.3838e-07	0.016723	4.61085e-07	14	15				
PKIG	11142	broad.mit.edu	37	20	43246949	43246949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:43246949C>G	uc002xmg.2	+	6	704	c.175C>G	c.(175-177)CCA>GCA	p.P59A	PKIG_uc002xmh.2_Missense_Mutation_p.P59A|PKIG_uc002xmi.2_Missense_Mutation_p.P59A	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	59							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGGAAGCGCCCCAGACAAGGA	0.547		NaN											0	0	0	0.007291	0	29	152				
SNX21	90203	broad.mit.edu	37	20	44469809	44469809	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:44469809G>C	uc002xpv.1	+	4	1068	c.979G>C	c.(979-981)GAG>CAG	p.E327Q	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.E138Q|SNX21_uc002xpx.2_Missense_Mutation_p.E317Q|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.E138Q|SNX21_uc002xpz.1_Missense_Mutation_p.E138Q	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	327					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ACCCTTTCTGGAGGCCCATGT	0.657		NaN											0	0	0	0.010818	0	32	46				
SPATA2	9825	broad.mit.edu	37	20	48522407	48522407	+	Nonsense_Mutation	SNP	G	G	A	rs145093250		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:48522407G>A	uc010gie.2	-	3	1662	c.1312C>T	c.(1312-1314)CAG>TAG	p.Q438*	SPATA2_uc002xuw.2_Nonsense_Mutation_p.Q438*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.Q301*	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	438					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCGAGGCCCTGAGTCTGGCCT	0.662		NaN											0	0	0	0.016723	0	14	52				
DIDO1	11083	broad.mit.edu	37	20	61511415	61511415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511415G>A	uc002ydr.1	-	16	6157	c.5893C>T	c.(5893-5895)CAG>TAG	p.Q1965*	DIDO1_uc002yds.1_Nonsense_Mutation_p.Q1965*	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1965	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TCGAACTGCTGAGGCTGAATG	0.577		NaN											0	0	0	0.01441	0	46	198				
DIDO1	11083	broad.mit.edu	37	20	61511882	61511882	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511882G>T	uc002ydr.1	-	16	5690	c.5426C>A	c.(5425-5427)TCC>TAC	p.S1809Y	DIDO1_uc002yds.1_Missense_Mutation_p.S1809Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1809	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGAGAATAAGGAAGGGATGGG	0.607		NaN											1	0	1.22574e-08	0.014323	1.31543e-08	20	97				
DIDO1	11083	broad.mit.edu	37	20	61512446	61512446	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512446G>A	uc002ydr.1	-	16	5126	c.4862C>T	c.(4861-4863)TCG>TTG	p.S1621L	DIDO1_uc002yds.1_Missense_Mutation_p.S1621L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1621					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTTTCGCCCGAAGCCCAGGG	0.711		NaN											0	0	0	0.001984	0	7	8				
DIDO1	11083	broad.mit.edu	37	20	61512978	61512978	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512978G>A	uc002ydr.1	-	16	4594	c.4330C>T	c.(4330-4332)CTG>TTG	p.L1444L	DIDO1_uc002yds.1_Silent_p.L1444L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1444					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTTGGGCAGGTCATCAACA	0.617		NaN											0	0	0	0.009535	0	30	109				
DEPDC5	9681	broad.mit.edu	37	22	32174116	32174116	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:32174116G>A	uc003als.2	+	8	587	c.445G>A	c.(445-447)GAG>AAG	p.E149K	DEPDC5_uc011als.1_Missense_Mutation_p.E149K|DEPDC5_uc011alu.1_Missense_Mutation_p.E149K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E149K|DEPDC5_uc003alr.1_Missense_Mutation_p.E149K|DEPDC5_uc011alt.1_Missense_Mutation_p.E121K	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	149					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GGTTAAGAATGAGAAGGTCAT	0.333		NaN											0	0	0	0.010818	0	30	65				
MGAT3	4248	broad.mit.edu	37	22	39883792	39883792	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:39883792G>A	uc003axv.3	+	2	679	c.440G>A	c.(439-441)CGG>CAG	p.R147Q	MGAT3_uc010gxy.2_Missense_Mutation_p.R147Q	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	147	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TCGGCCCGGCGGCCACCCCGG	0.766		NaN											0	0	0	0.004672	0	3	0				
SRGAP3	9901	broad.mit.edu	37	3	9146379	9146379	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:9146379G>A	uc003brf.1	-	3	1084	c.408C>T	c.(406-408)ATC>ATT	p.I136I	SRGAP3_uc003brg.1_Silent_p.I136I|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Silent_p.I136I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	136					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGAAGAGTCTGATGACATCCT	0.552		NaN	T	RAF1	pilocytic astrocytoma								0	0	0	0.00632	0	28	65				
GALNTL2	117248	broad.mit.edu	37	3	16254202	16254202	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:16254202G>A	uc003car.3	+	6	1799	c.1324G>A	c.(1324-1326)GAG>AAG	p.E442K	GALNTL2_uc003caq.3_Missense_Mutation_p.E175K	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	442	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						TCGCATTGCTGAGACCTGGCT	0.547		NaN											0	0	0	0.003163	0	13	52				
EPM2AIP1	9852	broad.mit.edu	37	3	37033451	37033451	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:37033451G>C	uc003cgk.2	-	1	1345	c.1118C>G	c.(1117-1119)TCA>TGA	p.S373*	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	373						endoplasmic reticulum					0						TTGTTTGTCTGAGAAGTGGAC	0.398		NaN											0	0	0	0.01441	0	54	124				
NKTR	4820	broad.mit.edu	37	3	42680225	42680225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:42680225G>A	uc003clo.2	+	13	3176	c.3029G>A	c.(3028-3030)CGA>CAA	p.R1010Q	NKTR_uc003clm.1_Missense_Mutation_p.R757Q|NKTR_uc003clp.2_Missense_Mutation_p.R757Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R900Q|NKTR_uc003clr.1_Missense_Mutation_p.R757Q|NKTR_uc003cls.2_Missense_Mutation_p.R710Q	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1010	Arg/Lys-rich (basic).				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCTCCAAAACGAAAGCAAGCA	0.383		NaN											0	0	0	0.010729	0	10	42				
ZNF445	353274	broad.mit.edu	37	3	44497015	44497015	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:44497015G>T	uc003cnf.2	-	3	375	c.27C>A	c.(25-27)GCC>GCA	p.A9A	ZNF445_uc011azv.1_Silent_p.A9A|ZNF445_uc011azw.1_Silent_p.A9A	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTGGATAGGCAGCATGCC	0.557		NaN											1	0	2.17888e-05	0.006214	2.24697e-05	10	47				
C3orf62	375341	broad.mit.edu	37	3	49308828	49308828	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49308828C>G	uc003cwn.2	-	3	792	c.589G>C	c.(589-591)GAA>CAA	p.E197Q	C3orf62_uc003cwm.2_Missense_Mutation_p.E46Q|hsa-mir-4271|MI0015879_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	197											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCGTTTTCAAATTCTATT	0.423		NaN											0	0	0	0.008291	0	11	55				
AMIGO3	386724	broad.mit.edu	37	3	49756821	49756821	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49756821G>T	uc003cxj.2	-	1	418	c.78C>A	c.(76-78)TTC>TTA	p.F26L	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	26	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGGGCGGGAAACCCTCGG	0.642		NaN									OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	9.31168e-06	0.016723	9.64033e-06	13	37				
DOCK3	1795	broad.mit.edu	37	3	51317569	51317569	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:51317569C>T	uc011bds.1	+	27	2879	c.2856C>T	c.(2854-2856)CTC>CTT	p.L952L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	952						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTCACTGCTCCGCCAGATGT	0.517		NaN											0	0	0	0.009096	0	3	25				
DNAH1	25981	broad.mit.edu	37	3	52398976	52398976	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:52398976G>A	uc011bef.1	+	34	5720	c.5459G>A	c.(5458-5460)GGC>GAC	p.G1820D		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1820					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGACTACGGCATCCTGGAT	0.607		NaN											0	0	0	0.004007	0	14	63				
TFG	10342	broad.mit.edu	37	3	100467340	100467340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:100467340C>T	uc003due.2	+	8	1617	c.1168C>T	c.(1168-1170)CAG>TAG	p.Q390*	TFG_uc003duf.2_Nonsense_Mutation_p.Q390*|TFG_uc003dug.2_Nonsense_Mutation_p.Q386*|TFG_uc003duh.2_Nonsense_Mutation_p.Q386*|TFG_uc003dui.2_Nonsense_Mutation_p.Q390*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	390					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						TCCCTTTGGTCAGGGCTATAC	0.498		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	0.013537	0	11	48				
CBLB	868	broad.mit.edu	37	3	105459361	105459361	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:105459361C>G	uc003dwc.2	-	7	1282	c.960G>C	c.(958-960)CTG>CTC	p.L320L	CBLB_uc011bhi.1_Silent_p.L342L|CBLB_uc003dwd.1_Silent_p.L320L|CBLB_uc003dwe.1_Silent_p.L320L|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	320	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						TGCCATCAATCAGGGCTTGAA	0.418		NaN	Mis S		AML								0	0	0	0.012319	0	20	50				
DPPA4	55211	broad.mit.edu	37	3	109056349	109056349	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:109056349C>T	uc003dxq.3	-	1	71	c.16G>A	c.(16-18)GCT>ACT	p.A6T	DPPA4_uc011bho.1_Missense_Mutation_p.A6T|DPPA4_uc011bhp.1_Missense_Mutation_p.A6T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	6						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GTAGAAGAAGCGGAGCCTCGC	0.493		NaN											0	0	0	0.004482	0	9	32				
POLQ	10721	broad.mit.edu	37	3	121228970	121228970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:121228970G>A	uc003eee.3	-	11	1861	c.1732C>T	c.(1732-1734)CAG>TAG	p.Q578*		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	578					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GCTCCAAGCTGAACAGACTCT	0.428		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.012319	0	23	62				
PLCH1	23007	broad.mit.edu	37	3	155199036	155199036	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199036C>T	uc011bok.1	-	23	5080	c.4803G>A	c.(4801-4803)AAG>AAA	p.K1601K	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.K1563K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1601					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAACTTTCTGCTTGTTGGCTT	0.547		NaN											0	0	0	0.004656	0	28	52				
PLCH1	23007	broad.mit.edu	37	3	155199541	155199541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199541G>C	uc011bok.1	-	23	4575	c.4298C>G	c.(4297-4299)TCT>TGT	p.S1433C	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1395C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1433					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTAGATAAGAAATACTTTG	0.413		NaN											0	0	0	0.004656	0	28	46				
ACTL6A	86	broad.mit.edu	37	3	179294032	179294032	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294032G>A	uc003fjw.2	+	6	677	c.504G>A	c.(502-504)CTG>CTA	p.L168L	ACTL6A_uc003fjx.2_Silent_p.L126L|ACTL6A_uc003fjy.2_Silent_p.L126L	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	168					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTACTGGGCTGATTTTGGACA	0.398		NaN											0	0	0	0.004007	0	13	26				
ACTL6A	86	broad.mit.edu	37	3	179294656	179294656	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294656G>C	uc003fjw.2	+	8	896	c.723G>C	c.(721-723)GAG>GAC	p.E241D	ACTL6A_uc003fjx.2_Missense_Mutation_p.E199D|ACTL6A_uc003fjy.2_Missense_Mutation_p.E199D	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	241					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAAGAAAAGAGAAGTTGCCTC	0.418		NaN											0	0	0	0.00632	0	28	54				
RTP1	132112	broad.mit.edu	37	3	186917517	186917517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:186917517G>A	uc003frg.2	+	2	481	c.451G>A	c.(451-453)GAG>AAG	p.E151K		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	151	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGAGAACATCGAGGGCCTGGT	0.682		NaN											0	0	0	0.014758	0	5	31				
SH3TC1	54436	broad.mit.edu	37	4	8214432	8214432	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:8214432G>C	uc003gkv.3	+	4	353	c.252G>C	c.(250-252)CTG>CTC	p.L84L	SH3TC1_uc003gkw.3_Silent_p.L8L|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	84							binding			large_intestine(2)|pancreas(1)	3						CTCCAGACCTGACCCTGCAGC	0.662		NaN											0	0	0	0.001984	0	7	23				
LIN54	132660	broad.mit.edu	37	4	83858433	83858433	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:83858433C>G	uc003hnx.3	-	9	1929	c.1551G>C	c.(1549-1551)TCG>TCC	p.S517S	LIN54_uc003hnz.3_Silent_p.S296S|LIN54_uc003hny.3_Silent_p.S116S|LIN54_uc010ijt.2_Silent_p.S428S|LIN54_uc010iju.2_Silent_p.S116S|LIN54_uc010ijv.2_Silent_p.S296S	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	517					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				GCCGACTGGCCGACTCTGATG	0.303		NaN											0	0	0	0.006214	0	10	69				
GPRIN3	285513	broad.mit.edu	37	4	90170794	90170794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:90170794C>T	uc003hsm.1	-	2	987	c.468G>A	c.(466-468)ATG>ATA	p.M156I		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	156										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTGTGATCTCATCAGGGAAT	0.517		NaN											0	0	0	0.004656	0	28	63				
LEF1	51176	broad.mit.edu	37	4	108999479	108999479	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:108999479G>A	uc003hyt.1	-	8	1560	c.905C>T	c.(904-906)CCT>CTT	p.P302L	LEF1_uc011cfj.1_Missense_Mutation_p.P159L|LEF1_uc011cfk.1_Missense_Mutation_p.P206L|LEF1_uc003hyu.1_Missense_Mutation_p.P274L|LEF1_uc003hyv.1_Missense_Mutation_p.P274L|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	302	HMG box.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCATTCAGAGGCTTCTTAAT	0.443		NaN											0	0	0	0.01441	0	72	166				
LEF1	51176	broad.mit.edu	37	4	109084785	109084785	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:109084785G>C	uc003hyt.1	-	3	1008	c.353C>G	c.(352-354)CCA>CGA	p.P118R	LEF1_uc011cfj.1_Missense_Mutation_p.P3R|LEF1_uc011cfk.1_Missense_Mutation_p.P50R|LEF1_uc003hyu.1_Missense_Mutation_p.P118R|LEF1_uc003hyv.1_Missense_Mutation_p.P118R|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	118	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATTCATATTTGGCATCATTAT	0.428		NaN											0	0	0	0.012319	0	22	70				
ANP32C	23520	broad.mit.edu	37	4	165118848	165118848	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:165118848G>A	uc011cjk.1	-	1	16	c.16C>T	c.(16-18)CGG>TGG	p.R6W	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	6											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		GAATGAATCCGTCTGCCCATC	0.552		NaN											0	0	0	0.006999	0	38	87				
SLC6A19	340024	broad.mit.edu	37	5	1219057	1219057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:1219057G>A	uc003jbw.3	+	9	1269	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	405	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCTTCACCGAGGCCATCAC	0.607		NaN											0	0	0	0.008871	0	19	36				
CTNND2	1501	broad.mit.edu	37	5	11117566	11117566	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:11117566C>A	uc003jfa.1	-	13	2418	c.2273G>T	c.(2272-2274)AGC>ATC	p.S758I	CTNND2_uc010itt.2_Missense_Mutation_p.S667I|CTNND2_uc011cmy.1_Missense_Mutation_p.S421I|CTNND2_uc011cmz.1_Missense_Mutation_p.S325I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S325I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	758	ARM 6.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ACCAACCTTGCTATCGATCTC	0.512		NaN											1	0	2.12542e-12	0.00632	2.29963e-12	29	87				
ADAMTS12	81792	broad.mit.edu	37	5	33588796	33588796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:33588796C>T	uc003jia.1	-	18	2936	c.2773G>A	c.(2773-2775)GAC>AAC	p.D925N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D840N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	925	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGCTGGCAGTCTGTGGGCGGG	0.627		NaN								HNSCC(64;0.19)			0	0	0	0.00632	0	29	77				
RICTOR	253260	broad.mit.edu	37	5	38955780	38955780	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:38955780C>T	uc003jlp.2	-	26	2550	c.2526G>A	c.(2524-2526)TTG>TTA	p.L842L	RICTOR_uc003jlo.2_Silent_p.L842L|RICTOR_uc010ivf.2_Silent_p.L557L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	842					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GTTCCTCAATCAAGTCAACAT	0.358		NaN											0	0	0	0.013537	0	12	54				
PDE4D	5144	broad.mit.edu	37	5	58270810	58270810	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:58270810T>C	uc003jsa.2	-	15	2283	c.2111A>G	c.(2110-2112)AAT>AGT	p.N704S	PDE4D_uc003jrx.2_Missense_Mutation_p.N568S|PDE4D_uc003jry.2_Missense_Mutation_p.N402S|PDE4D_uc003jrz.2_Missense_Mutation_p.N640S|PDE4D_uc003jsb.2_Missense_Mutation_p.N643S|PDE4D_uc003jrt.2_Missense_Mutation_p.N402S|PDE4D_uc003jru.2_Missense_Mutation_p.N480S|PDE4D_uc003jrv.2_Missense_Mutation_p.N574S|PDE4D_uc003jrw.2_Missense_Mutation_p.N582S|PDE4D_uc003jrs.2_Missense_Mutation_p.N413S	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	704					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCATTCACGATTGTCCTCCAA	0.532		NaN											0	0	0	0.00308	0	8	27				
FER	2241	broad.mit.edu	37	5	108290634	108290634	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:108290634G>A	uc003kop.1	+	12	1917	c.1533_splice	c.e12+1	p.D511_splice	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Splice_Site_p.D336_splice	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATATGTTGATGTACGTTTCCA	0.343		NaN											0	0	0	0.021523	0	24	48				
PCDHB1	29930	broad.mit.edu	37	5	140432632	140432632	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140432632A>G	uc003lik.1	+	1	1654	c.1577A>G	c.(1576-1578)CAA>CGA	p.Q526R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	526	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCCATTCAAGATTTTCAA	0.438		NaN											0	0	0	0.010729	0	12	39				
PCDHGA11	56105	broad.mit.edu	37	5	140801665	140801665	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140801665G>A	uc003lkq.1	+	1	1129	c.871G>A	c.(871-873)GAA>AAA	p.E291K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.E291K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.E291K	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	291	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCTTCTGAAATATTCCA	0.428		NaN											0	0	0	0.010771	0	38	92				
DIAPH1	1729	broad.mit.edu	37	5	140960344	140960344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140960344G>C	uc003llb.3	-	8	932	c.791C>G	c.(790-792)TCT>TGT	p.S264C	DIAPH1_uc003llc.3_Missense_Mutation_p.S255C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	264	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGAGCAGAAAGCAGCTT	0.418		NaN											0	0	0	0.003163	0	15	55				
RARS	5917	broad.mit.edu	37	5	167933745	167933745	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:167933745A>G	uc003lzx.2	+	11	1296	c.1255A>G	c.(1255-1257)ATA>GTA	p.I419V	RARS_uc011deo.1_Missense_Mutation_p.I213V	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	419					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTTCCAGACAATATTTGCTGC	0.398		NaN											0	0	0	0.01892	0	24	30				
SH3PXD2B	285590	broad.mit.edu	37	5	171773245	171773245	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:171773245C>T	uc003mbr.2	-	12	1254	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	361					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCGGCTTCGGCAGGTTGA	0.597		NaN											0	0	0	0.019004	0	34	68				
NHLRC1	378884	broad.mit.edu	37	6	18122075	18122075	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:18122075C>T	uc003ncl.1	-	1	777	c.763G>A	c.(763-765)GAA>AAA	p.E255K		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	255	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TGCAACCTTTCAGTTCTCCGA	0.632		NaN											0	0	0	0.006214	0	9	23				
SCAND3	114821	broad.mit.edu	37	6	28542657	28542657	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:28542657C>G	uc003nlo.2	-	3	2443	c.1825G>C	c.(1825-1827)GAA>CAA	p.E609Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	609					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTGTGCATTCTTTTTCACAA	0.413		NaN											0	0	0	0.006214	0	10	18				
TNXB	7148	broad.mit.edu	37	6	32014154	32014155	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:32014154_32014155GG>TT	uc003nzl.2	-	31	10599_10600	c.10397_10398CC>AA	c.(10396-10398)TCC>TAA	p.S3466*	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_Translation_Start_Site	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3513	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTACCGTCCAGGACAGGCGCAG	0.663		NaN											0	0	0	0.004672	0	16	23				
FKBP5	2289	broad.mit.edu	37	6	35543683	35543683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:35543683C>A	uc011dte.1	-	11	1506	c.1303G>T	c.(1303-1305)GAA>TAA	p.E435*	FKBP5_uc003okx.2_Nonsense_Mutation_p.E435*|FKBP5_uc011dtf.1_Nonsense_Mutation_p.E256*|FKBP5_uc003oky.2_Nonsense_Mutation_p.E435*	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	435					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTGACCCCTTCTGAAGTCTTC	0.448		NaN											1	0	1.86633e-21	0.01441	2.036e-21	48	160				
LRFN2	57497	broad.mit.edu	37	6	40360393	40360393	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:40360393G>A	uc003oph.1	-	3	2124	c.1659C>T	c.(1657-1659)CTC>CTT	p.L553L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	553	Helical; (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGCACCATGAGGATGACGA	0.632		NaN											0	0	0	0.008291	0	11	22				
TRERF1	55809	broad.mit.edu	37	6	42224510	42224510	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:42224510C>T	uc003osd.2	-	12	3099	c.2536G>A	c.(2536-2538)GAA>AAA	p.E846K	TRERF1_uc011duq.1_Missense_Mutation_p.E763K|TRERF1_uc003osb.2_Missense_Mutation_p.E602K|TRERF1_uc003osc.2_Missense_Mutation_p.E602K|TRERF1_uc003ose.2_Missense_Mutation_p.E866K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	846	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAAGCAAATTCAGAATTGGTC	0.438		NaN											0	0	0	0.00499	0	15	43				
PKHD1	5314	broad.mit.edu	37	6	51768474	51768474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:51768474G>A	uc003pah.1	-	43	7193	c.6917C>T	c.(6916-6918)TCT>TTT	p.S2306F	PKHD1_uc010jzn.1_Missense_Mutation_p.S289F|PKHD1_uc003pai.2_Missense_Mutation_p.S2306F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2306	PbH1 3.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCGGCACCAGAAACCTGGAT	0.413		NaN											0	0	0	0.016522	0	23	67				
BACH2	60468	broad.mit.edu	37	6	90642373	90642373	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:90642373G>A	uc011eab.1	-	9	3089	c.2280C>T	c.(2278-2280)TGC>TGT	p.C760C	BACH2_uc003pnw.2_Silent_p.C760C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	760						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCACTGCGCATTGGGAGG	0.637		NaN											0	0	0	0.013537	0	11	34				
RBM16	22828	broad.mit.edu	37	6	155153375	155153375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153375C>G	uc003qqa.2	+	21	2894	c.2662C>G	c.(2662-2664)CCA>GCA	p.P888A	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P954A|RBM16_uc011efk.1_Missense_Mutation_p.P933A|RBM16_uc003qpz.2_Missense_Mutation_p.P888A|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	888	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		AGTACAGCCACCAAATGTTCC	0.458		NaN											0	0	0	0.010818	0	33	42				
RBM16	22828	broad.mit.edu	37	6	155153393	155153393	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153393C>G	uc003qqa.2	+	21	2912	c.2680C>G	c.(2680-2682)CCT>GCT	p.P894A	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P960A|RBM16_uc011efk.1_Missense_Mutation_p.P939A|RBM16_uc003qpz.2_Missense_Mutation_p.P894A|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	894	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TCCAAATACTCCTGGACTTCT	0.453		NaN											0	0	0	0.013726	0	34	47				
MIOS	54468	broad.mit.edu	37	7	7612191	7612191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:7612191C>G	uc003srf.2	+	4	393	c.85C>G	c.(85-87)CAT>GAT	p.H29D	MIOS_uc010ktp.1_Missense_Mutation_p.H29D	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	29											0						AAGTCTTTATCATGTGGAATC	0.383		NaN											0	0	0	0.004482	0	9	28				
GLI3	2737	broad.mit.edu	37	7	42005908	42005908	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:42005908G>A	uc011kbh.1	-	15	2854	c.2763C>T	c.(2761-2763)CTC>CTT	p.L921L	GLI3_uc011kbg.1_Silent_p.L862L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	921					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGCGGGCGTGAGGCTGAGCA	0.701		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.006214	0	9	23				
ASL	435	broad.mit.edu	37	7	65553815	65553815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:65553815C>T	uc003tuo.2	+	11	851	c.740C>T	c.(739-741)TCG>TTG	p.S247L	ASL_uc003tup.2_Missense_Mutation_p.S247L|ASL_uc003tur.2_Missense_Mutation_p.S221L|ASL_uc003tuq.2_Missense_Mutation_p.S247L	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	247					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TTCTGGGCTTCGCTGTGCATG	0.587		NaN											0	0	0	0.004482	0	8	34				
FZD9	8326	broad.mit.edu	37	7	72849364	72849364	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:72849364G>A	uc003tyb.2	+	1	1256	c.1027G>A	c.(1027-1029)GGG>AGG	p.G343R		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	343	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTGGCTGCCGGGAAGAAATG	0.637		NaN											0	0	0	0.006214	0	10	47				
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73771712G>A	uc003uam.2	+	6	1447	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K	CLIP2_uc003uan.2_Missense_Mutation_p.E374K	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374	Potential.					microtubule associated complex				skin(3)	3						GCTGCTGGCTGAACGAGACCT	0.612		NaN											0	0	0	0.001984	0	6	9				
CLIP2	7461	broad.mit.edu	37	7	73811473	73811473	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73811473G>C	uc003uam.2	+	14	3117	c.2790G>C	c.(2788-2790)CTG>CTC	p.L930L	CLIP2_uc003uan.2_Silent_p.L895L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	930	Potential.					microtubule associated complex				skin(3)	3						AGAGGGACCTGAGCCGTGAGG	0.627		NaN											0	0	0	0.010729	0	11	28				
ZC3HAV1L	92092	broad.mit.edu	37	7	138711457	138711457	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:138711457G>A	uc003vum.1	-	4	895	c.883C>T	c.(883-885)CCA>TCA	p.P295S		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	295											0						GGTTTACCTGGGCAGGGCTTC	0.502		NaN											0	0	0	0.014758	0	5	93				
CUL1	8454	broad.mit.edu	37	7	148487405	148487405	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:148487405G>A	uc010lpg.2	+	16	2204	c.1678G>A	c.(1678-1680)GAA>AAA	p.E560K	CUL1_uc003wey.2_Missense_Mutation_p.E560K|CUL1_uc003wez.2_Missense_Mutation_p.E450K|CUL1_uc003wfa.2_Missense_Mutation_p.E221K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	560					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATCTAGTTGGAACGTAGTTA	0.428		NaN											0	0	0	0.007413	0	14	35				
CSMD1	64478	broad.mit.edu	37	8	3000065	3000065	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:3000065T>C	uc011kwk.1	-	41	6556	c.6166A>G	c.(6166-6168)AGC>GGC	p.S2056G	CSMD1_uc011kwj.1_Missense_Mutation_p.S1448G|CSMD1_uc010lrg.2_Missense_Mutation_p.S124G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2056	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGTTGTGCTCAGCAGGGCC	0.478		NaN											0	0	0	0.001168	0	6	36				
SCARA3	51435	broad.mit.edu	37	8	27507313	27507313	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:27507313G>C	uc003xga.1	+	2	243	c.102G>C	c.(100-102)CAG>CAC	p.Q34H	SCARA3_uc003xgb.1_Missense_Mutation_p.Q34H	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	34	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATGCACCCAGAAGGGTAAGG	0.592		NaN											0	0	0	0.00308	0	8	17				
PURG	29942	broad.mit.edu	37	8	30890034	30890034	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:30890034C>T	uc003xin.2	-	1	284	c.265G>A	c.(265-267)GAA>AAA	p.E89K	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E89K	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	89	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ATCCAGACTTCGGCTATCTTT	0.542		NaN											0	0	0	0.003163	0	16	27				
GOT1L1	137362	broad.mit.edu	37	8	37791899	37791899	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:37791899T>A	uc011lbj.1	-	9	1278	c.1178A>T	c.(1177-1179)GAG>GTG	p.E393V		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	393					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGATGCCCTCAGTGATGTA	0.408		NaN											0	0	0	0.009718	0	42	86				
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:43197470C>T	uc003xpz.1	+	11	1402	c.1359C>T	c.(1357-1359)AAC>AAT	p.N453N	POTEA_uc003xqa.1_Silent_p.N407N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	453										ovary(1)	1						TGGATTTTAACGGTAGGACCA	0.373		NaN											0	0	0	0.004656	0	21	35				
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:53853373C>T	uc011ldu.1	+	1	906	c.906C>T	c.(904-906)CTC>CTT	p.L302L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	302	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652		NaN											0	0	0	0.016723	0	11	24				
ANKRD46	157567	broad.mit.edu	37	8	101540176	101540176	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:101540176C>G	uc003yjm.2	-	4	571	c.367G>C	c.(367-369)GAT>CAT	p.D123H	ANKRD46_uc003yjn.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjo.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjp.1_Missense_Mutation_p.D123H	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	123	ANK 4.					integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CGGATGACATCTTTATTTACT	0.383		NaN											0	0	0	0.01892	0	22	67				
CSMD3	114788	broad.mit.edu	37	8	113358422	113358422	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:113358422A>G	uc003ynu.2	-	41	6505	c.6346T>C	c.(6346-6348)TCA>CCA	p.S2116P	CSMD3_uc003yns.2_Missense_Mutation_p.S1318P|CSMD3_uc003ynt.2_Missense_Mutation_p.S2076P|CSMD3_uc011lhx.1_Missense_Mutation_p.S2012P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2116	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTGAAGTCTGACATAGCACCA	0.373		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.004007	0	15	43				
C9orf23	138716	broad.mit.edu	37	9	34611268	34611268	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:34611268G>A	uc003zuu.2	-	2	307	c.26C>T	c.(25-27)TCT>TTT	p.S9F	C9orf23_uc003zuv.2_Missense_Mutation_p.S9F	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	hypothetical protein LOC138716	9							nucleic acid binding				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)		GAGCTCTACAGAGCCAGCTTT	0.577		NaN											0	0	0	0.001168	0	5	14				
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:125316096C>A	uc011lyx.1	+	1	648	c.648C>A	c.(646-648)ATC>ATA	p.I216I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						AGCTGATGATCATCACCATGG	0.502		NaN											1	0	4.67007e-22	0.00874	5.11576e-22	32	63				
RABEPK	10244	broad.mit.edu	37	9	127996161	127996161	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996161G>A	uc004bpi.2	+	9	1194	c.1021G>A	c.(1021-1023)GAG>AAG	p.E341K	RABEPK_uc004bpj.2_Missense_Mutation_p.E290K|RABEPK_uc004bpk.2_Missense_Mutation_p.E341K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E341K	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	341					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TGACTCACATGAGGAAAGCCA	0.438		NaN											0	0	0	0.009535	0	32	65				
RABEPK	10244	broad.mit.edu	37	9	127996208	127996208	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996208G>A	uc004bpi.2	+	9	1241	c.1068G>A	c.(1066-1068)ATG>ATA	p.M356I	RABEPK_uc004bpj.2_Missense_Mutation_p.M305I|RABEPK_uc004bpk.2_Missense_Mutation_p.M356I|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.M356I	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	356					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TTGGTGGGATGAATACAGAAG	0.408		NaN											0	0	0	0.007835	0	37	85				
RABEPK	10244	broad.mit.edu	37	9	127996215	127996215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996215G>A	uc004bpi.2	+	9	1248	c.1075G>A	c.(1075-1077)GAA>AAA	p.E359K	RABEPK_uc004bpj.2_Missense_Mutation_p.E308K|RABEPK_uc004bpk.2_Missense_Mutation_p.E359K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E359K	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	359					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GATGAATACAGAAGGGGAAAT	0.398		NaN											0	0	0	0.007835	0	36	86				
CRAT	1384	broad.mit.edu	37	9	131870096	131870096	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131870096G>C	uc004bxh.2	-	2	570	c.288C>G	c.(286-288)AAC>AAG	p.N96K	CRAT_uc004bxg.2_Missense_Mutation_p.N75K|CRAT_uc004bxk.3_Missense_Mutation_p.N75K|CRAT_uc004bxj.2_Missense_Mutation_p.N97K	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	96					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACTCACCCAGTTCTCCGTCT	0.637		NaN											0	0	0	0.008291	0	9	13				
ABL1	25	broad.mit.edu	37	9	133589745	133589745	+	Silent	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:133589745A>G	uc004bzv.2	+	1	478	c.39A>G	c.(37-39)AGA>AGG	p.R13R		NM_007313	NP_009297	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	Error:Variant_position_missing_in_P00519_after_alignment					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGGACCAAAGAAGGCCAAGCT	0.498		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.010504	0	21	21				
PTCHD1	139411	broad.mit.edu	37	X	23398359	23398359	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:23398359G>A	uc004dal.3	+	2	1011	c.1003G>A	c.(1003-1005)GTC>ATC	p.V335I	PTCHD1_uc010nfu.1_Missense_Mutation_p.V335I	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	335	Helical; (Potential).|SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AGTCCCTTTCGTCATGCTAGG	0.483		NaN											0	0	0	0.013537	0	10	83				
RBM10	8241	broad.mit.edu	37	X	47044531	47044531	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47044531C>A	uc004dhf.2	+	18	2407	c.2028C>A	c.(2026-2028)ATC>ATA	p.I676I	RBM10_uc004dhg.2_Silent_p.I598I|RBM10_uc004dhh.2_Silent_p.I675I|RBM10_uc010nhq.2_Silent_p.I599I|RBM10_uc004dhi.2_Silent_p.I741I	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	676					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						TCCAGCCTATCAGCTCCCTGC	0.567		NaN											1	0	3.27435e-08	0.020292	3.49971e-08	13	26				
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47485822C>T	uc004dig.3	-	7	1163	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H	CFP_uc004dih.2_Missense_Mutation_p.R346H|CFP_uc004dii.1_Missense_Mutation_p.R282H|CFP_uc010nhu.2_Missense_Mutation_p.R346H	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GGTCCTCCCGCGTGACTGCTG	0.622		NaN											0	0	0	0.020292	0	12	23				
SMC1A	8243	broad.mit.edu	37	X	53436094	53436094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:53436094C>A	uc004dsg.2	-	9	1513	c.1444G>T	c.(1444-1446)GAG>TAG	p.E482*	SMC1A_uc011moe.1_Nonsense_Mutation_p.E460*|SMC1A_uc011mof.1_Nonsense_Mutation_p.E248*	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	482	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CCTAGCTGCTCCATCACCTGG	0.562		NaN											1	0	2.27111e-07	0.013537	2.40792e-07	13	37				
PHF8	23133	broad.mit.edu	37	X	54022189	54022189	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:54022189G>A	uc004dsu.2	-	12	1441	c.1368C>T	c.(1366-1368)ATC>ATT	p.I456I	PHF8_uc004dst.2_Silent_p.I420I|PHF8_uc004dsv.2_Silent_p.I286I|PHF8_uc004dsw.2_Silent_p.I420I|PHF8_uc004dsx.2_Silent_p.I184I|PHF8_uc004dsy.2_Silent_p.I420I	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	456					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CTGTCTCCGGGATCTCATCCT	0.393		NaN											0	0	0	0.001984	0	7	20				
ZMYM3	9203	broad.mit.edu	37	X	70470474	70470474	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:70470474G>C	uc004dzh.1	-	5	968	c.881C>G	c.(880-882)TCA>TGA	p.S294*	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.S294*|ZMYM3_uc011mpu.1_Nonsense_Mutation_p.S25*|ZMYM3_uc004dzk.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzl.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzm.3_Nonsense_Mutation_p.S294*	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	294					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TGACACACTTGAGCGTAGGGA	0.587		NaN											0	0	0	0.014758	0	5	15				
NOC2L	26155	broad.mit.edu	37	1	892328	892328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:892328C>G	uc001abz.3	-	4	491	c.432G>C	c.(430-432)AAG>AAC	p.K144N	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.K144N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	144						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAACAGAATTCTTCTTCCCCT	0.592		NaN											0	0	0	0.01441	0	72	124				
PLEKHN1	84069	broad.mit.edu	37	1	906303	906303	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:906303G>C	uc001ace.2	+	5	684	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	PLEKHN1_uc001acd.2_Missense_Mutation_p.E177Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E177Q	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	217	PH 1.										0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGCCGGGCCGAGCTGGACCG	0.726		NaN											0	0	0	0.006122	0	17	11				
TTLL10	254173	broad.mit.edu	37	1	1117193	1117193	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:1117193G>T	uc001acy.2	+	9	979	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.Q276H|TTLL10_uc001acz.1_Missense_Mutation_p.Q203H	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	276	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAGGCCACAGAGGTAGACTC	0.637		NaN											1	0	2.52707e-12	0.006214	2.69921e-12	10	13				
CELA2B	51032	broad.mit.edu	37	1	15809801	15809801	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15809801C>T	uc001awl.2	+	5	424	c.399C>T	c.(397-399)CTC>CTT	p.L133L		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CCGTCTCCCTCACCGACAAGA	0.602		NaN											0	0	0	0.004878	0	32	42				
CASP9	842	broad.mit.edu	37	1	15821948	15821948	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15821948C>G	uc001awn.2	-	7	964	c.869_splice	c.e7-1	p.E290_splice	CASP9_uc001awm.1_Splice_Site_p.E290_splice|CASP9_uc001awo.2_Splice_Site_p.E140_splice|CASP9_uc001awp.2_Splice_Site_p.E134_splice|CASP9_uc009voi.2_Splice_Site_p.E134_splice|CASP9_uc010obm.1_Splice_Site_p.E207_splice|CASP9_uc001awq.2_Splice_Site_p.E207_splice	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein						activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCTTTCTGCTCTGCAGGAAGC	0.388		NaN											0	0	0	0.001168	0	5	14				
SPEN	23013	broad.mit.edu	37	1	16258553	16258553	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16258553G>A	uc001axk.1	+	11	6022	c.5818G>A	c.(5818-5820)GAG>AAG	p.E1940K	SPEN_uc010obp.1_Missense_Mutation_p.E1899K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1940	Potential.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGCTTCAGGAGGCTGCAGC	0.587		NaN											0	0	0	0.010504	0	18	73				
NBPF1	55672	broad.mit.edu	37	1	16891403	16891403	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16891403C>G	uc009vos.1	-	29	4188	c.3300G>C	c.(3298-3300)AAG>AAC	p.K1100N	uc001ayw.2_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1100	NBPF 7.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccttccccttcttTTCAATTT	0.259		NaN											0	0	0	0.00245	0	5	600				
EIF4G3	8672	broad.mit.edu	37	1	21268770	21268770	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:21268770G>A	uc001bec.2	-	9	965	c.709C>T	c.(709-711)CTA>TTA	p.L237L	EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Silent_p.L236L|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.L237L|EIF4G3_uc001bef.2_Silent_p.L236L|EIF4G3_uc001bee.2_Silent_p.L243L|EIF4G3_uc001beg.2_Silent_p.L236L|EIF4G3_uc010odk.1_Silent_p.L237L|EIF4G3_uc001beh.2_Silent_p.L248L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	237					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGAGGACTAGCCTAAGGACT	0.438		NaN											0	0	0	0.00632	0	27	108				
HSPG2	3339	broad.mit.edu	37	1	22178283	22178283	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22178283C>T	uc001bfj.2	-	54	7046	c.7006_splice	c.e54+1	p.P2336_splice	HSPG2_uc009vqd.2_Splice_Site_p.P2337_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCCCACTCACGGTAGGCTAA	0.637		NaN											0	0	0	0.003755	0	33	39				
C1QB	713	broad.mit.edu	37	1	22987517	22987517	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22987517C>T	uc001bgd.2	+	3	532	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	134	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACGTCCCCCTGCGCCGGGA	0.602		NaN											0	0	0	0.014323	0	23	84				
YTHDF2	51441	broad.mit.edu	37	1	29069930	29069930	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:29069930C>T	uc001brc.2	+	4	1645	c.1148C>T	c.(1147-1149)TCA>TTA	p.S383L	YTHDF2_uc001brd.2_Missense_Mutation_p.S380L|YTHDF2_uc010ofx.1_Missense_Mutation_p.S333L|YTHDF2_uc001bre.2_Missense_Mutation_p.S333L	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	383					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACTCCTTCAGAACCCCAC	0.498		NaN											0	0	0	0.012319	0	22	73				
BAI2	576	broad.mit.edu	37	1	32205546	32205546	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:32205546C>T	uc001btn.2	-	14	2502	c.2148G>A	c.(2146-2148)CTG>CTA	p.L716L	BAI2_uc010ogo.1_Silent_p.L358L|BAI2_uc010ogp.1_Silent_p.L649L|BAI2_uc010ogq.1_Silent_p.L716L|BAI2_uc001bto.2_Silent_p.L716L|BAI2_uc001btq.1_Silent_p.L649L|BAI2_uc010ogr.1_Missense_Mutation_p.D526N	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	716	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGTGACAATCAGAGAGCTCT	0.552		NaN											0	0	0	0.010729	0	11	48				
SYNC	81493	broad.mit.edu	37	1	33149906	33149906	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149906C>G	uc001bvt.2	-	3	1411	c.1311G>C	c.(1309-1311)GAG>GAC	p.E437D	SYNC_uc010ohl.1_Missense_Mutation_p.E437D|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament 1 isoform 1	437	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			ovary(1)	1						GCTGTTCCATCTCTTTGTTCT	0.463		NaN											0	0	0	0.01441	0	59	152				
KIAA1522	57648	broad.mit.edu	37	1	33236757	33236757	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33236757C>T	uc001bvv.2	+	6	1936	c.1800C>T	c.(1798-1800)GTC>GTT	p.V600V	KIAA1522_uc001bvu.1_Silent_p.V659V|KIAA1522_uc010ohm.1_Silent_p.V611V|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	600	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAGGTTTGTCATACCTCCTC	0.632		NaN											0	0	0	0.01441	0	68	77				
CSMD2	114784	broad.mit.edu	37	1	33992844	33992844	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33992844C>T	uc001bxn.1	-	64	9783	c.9754G>A	c.(9754-9756)GGG>AGG	p.G3252R	CSMD2_uc001bxm.1_Missense_Mutation_p.G3396R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3252	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGTCTCCCACTGGGCCGG	0.502		NaN											0	0	0	0.004482	0	7	61				
CAP1	10487	broad.mit.edu	37	1	40537148	40537148	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:40537148C>G	uc001cfa.3	+	13	1600	c.1371C>G	c.(1369-1371)TTC>TTG	p.F457L	CAP1_uc001cey.3_Missense_Mutation_p.F457L|CAP1_uc001cez.3_Missense_Mutation_p.F457L|CAP1_uc009vvz.2_Missense_Mutation_p.F457L|CAP1_uc010oje.1_Missense_Mutation_p.F374L	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	457					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGAGCAGTTCAAGACCCTAT	0.473		NaN											0	0	0	0.007413	0	18	11				
C1orf175	374977	broad.mit.edu	37	1	55118945	55118945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:55118945G>A	uc010ooe.1	+	3	670	c.346G>A	c.(346-348)GAC>AAC	p.D116N	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D116N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D116N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	116						integral to membrane	binding				0						CTCAAGGCCTGACTCACAGGG	0.403		NaN											0	0	0	0.01441	0	72	81				
PRKAA2	5563	broad.mit.edu	37	1	57171852	57171852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:57171852G>A	uc001cyk.3	+	8	1452	c.1381G>A	c.(1381-1383)GAT>AAT	p.D461N		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	461					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.D461N(1)		breast(4)|ovary(1)|stomach(1)	6						TTACCTGGTTGATAACAGGAG	0.378		NaN											0	0	0	0.009535	0	30	38				
PKN2	5586	broad.mit.edu	37	1	89236127	89236127	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:89236127G>T	uc001dmn.2	+	4	939	c.597G>T	c.(595-597)CAG>CAT	p.Q199H	PKN2_uc001dmm.1_Missense_Mutation_p.Q199H|PKN2_uc010osp.1_Missense_Mutation_p.Q199H|PKN2_uc010osq.1_Missense_Mutation_p.Q42H|PKN2_uc009wcv.2_Missense_Mutation_p.Q199H	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	199	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGCAGTCCAGACTAATGAAT	0.408		NaN											1	0	7.01153e-11	0.007291	7.40841e-11	27	38				
AGL	178	broad.mit.edu	37	1	100387187	100387187	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:100387187G>C	uc001dsi.1	+	34	4979	c.4579G>C	c.(4579-4581)GAG>CAG	p.E1527Q	AGL_uc001dsj.1_Missense_Mutation_p.E1527Q|AGL_uc001dsk.1_Missense_Mutation_p.E1527Q|AGL_uc001dsl.1_Missense_Mutation_p.E1527Q|AGL_uc001dsm.1_Missense_Mutation_p.E1511Q|AGL_uc001dsn.1_Missense_Mutation_p.E1510Q	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1527	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACTATTCTTGAGACACTTTA	0.378		NaN											0	0	0	0.006214	0	9	42				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:115256529T>C	uc009wgu.2	-	3	436	c.182A>G	c.(181-183)CAA>CGA	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			0	0	0	0.013726	0	34	137				
PDE4DIP	9659	broad.mit.edu	37	1	144874708	144874708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:144874708C>G	uc001elw.3	-	30	5191	c.4900G>C	c.(4900-4902)GAG>CAG	p.E1634Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1590Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E641Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1634	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTTCTTCTCTTCATAGTGT	0.517		NaN	T	PDGFRB	MPD								0	0	0	0.005524	0	36	314				
NOTCH2NL	388677	broad.mit.edu	37	1	145282020	145282020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145282020G>A	uc001emn.3	+	5	1070	c.700G>A	c.(700-702)GAT>AAT	p.D234N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc001emm.3_Missense_Mutation_p.D234N|NOTCH2NL_uc001emo.2_Intron|NOTCH2NL_uc010oyh.1_Intron	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	234					cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						AAAAGAACACGATGAGAATTA	0.378		NaN											0	0	0	0.010729	0	10	71				
NBPF10	100132406	broad.mit.edu	37	1	145367724	145367724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145367724G>C	uc001end.3	+	85	10580	c.10545G>C	c.(10543-10545)AAG>AAC	p.K3515N	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3440											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAATTGAAaagaaggggaagg	0.259		NaN											0	0	0	0.00499	0	14	125				
GOLPH3L	55204	broad.mit.edu	37	1	150620960	150620960	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150620960G>C	uc001evj.2	-	5	912	c.695C>G	c.(694-696)TCT>TGT	p.S232C	GOLPH3L_uc010pci.1_Missense_Mutation_p.S188C	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Golgi phosphoprotein 3-like	232						Golgi cisterna membrane				ovary(1)	1	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCACATCAGAGGAGTGGGC	0.473		NaN											0	0	0	0.003954	0	23	77				
GOLPH3L	55204	broad.mit.edu	37	1	150621093	150621093	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150621093G>T	uc001evj.2	-	5	779	c.562C>A	c.(562-564)CAT>AAT	p.H188N	GOLPH3L_uc010pci.1_Missense_Mutation_p.H144N	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Golgi phosphoprotein 3-like	188						Golgi cisterna membrane				ovary(1)	1	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACTGGATGAGTAGTCATG	0.443		NaN											1	0	5.68852e-11	0.004482	6.02676e-11	9	39				
LYSMD1	388695	broad.mit.edu	37	1	151137595	151137595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:151137595C>T	uc001ewy.2	-	1	776	c.140G>A	c.(139-141)GGA>GAA	p.G47E	LYSMD1_uc010pcr.1_Intron|SCNM1_uc010pcs.1_5'Flank|SCNM1_uc001ewz.2_5'Flank|SCNM1_uc009wmn.2_5'Flank	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	47	LysM.				cell wall macromolecule catabolic process						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGGTGTCTCCGGGCTCCAA	0.562		NaN											0	0	0	0.004656	0	26	27				
FLG	2312	broad.mit.edu	37	1	152281835	152281835	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:152281835G>C	uc001ezu.1	-	3	5563	c.5527C>G	c.(5527-5529)CAC>GAC	p.H1843D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1843	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGGCTGTGATGAGACCCT	0.532		NaN							Ichthyosis				0	0	0	0.01441	0	200	227				
DENND4B	9909	broad.mit.edu	37	1	153902811	153902811	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:153902811C>T	uc001fdd.1	-	28	4854	c.4453G>A	c.(4453-4455)GAC>AAC	p.D1485N	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1485										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCGGCAGTCAATGGCCTTG	0.547		NaN											0	0	0	0.013537	0	12	34				
KCNN3	3782	broad.mit.edu	37	1	154705586	154705586	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:154705586G>A	uc001ffp.2	-	4	1797	c.1483C>T	c.(1483-1485)CTG>TTG	p.L495L	KCNN3_uc001ffo.2_Silent_p.L190L	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	500						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGCACCCAGAAAGTTACTA	0.517		NaN											0	0	0	0.003163	0	15	53				
HCN3	57657	broad.mit.edu	37	1	155257083	155257083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:155257083C>T	uc001fjz.1	+	7	1605	c.1597C>T	c.(1597-1599)CGC>TGC	p.R533C	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R228C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	533	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCATGATGCGCCGGGCCTT	0.617		NaN											0	0	0	0.012319	0	18	63				
CD1A	909	broad.mit.edu	37	1	158227240	158227240	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158227240T>G	uc001frt.2	+	5	1446	c.913T>G	c.(913-915)TTG>GTG	p.L305V		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	305	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTTCATCATCTTGGCGGTGAT	0.413		NaN											0	0	0	0.01441	0	72	243				
OR6K6	128371	broad.mit.edu	37	1	158725183	158725183	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158725183C>T	uc001fsw.1	+	1	578	c.578C>T	c.(577-579)ACC>ATC	p.T193I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TGGATTTCCACCTTGCCTTTC	0.478		NaN											0	0	0	0.00623	0	41	45				
IGSF9	57549	broad.mit.edu	37	1	159906269	159906269	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:159906269C>T	uc001fur.2	-	6	791	c.593G>A	c.(592-594)CGA>CAA	p.R198Q	IGSF9_uc001fuq.2_Missense_Mutation_p.R198Q	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	198	Ig-like 2.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657		NaN									OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00278	0	20	50				
CD84	8832	broad.mit.edu	37	1	160523264	160523264	+	Missense_Mutation	SNP	G	G	C	rs145496946		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:160523264G>C	uc001fwh.3	-	4	688	c.664C>G	c.(664-666)CAC>GAC	p.H222D	CD84_uc001fwf.3_Missense_Mutation_p.H222D|CD84_uc001fwg.3_Missense_Mutation_p.H222D|CD84_uc009wtn.2_Missense_Mutation_p.H222D|CD84_uc001fwi.3_Missense_Mutation_p.H108D|CD84_uc001fwj.2_Missense_Mutation_p.H222D	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	222	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCGGTGTGGTGAGTACGGAAG	0.488		NaN											0	0	0	0.014323	0	21	46				
PAPPA2	60676	broad.mit.edu	37	1	176564329	176564329	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:176564329T>C	uc001gkz.2	+	3	2753	c.1589T>C	c.(1588-1590)GTG>GCG	p.V530A	PAPPA2_uc001gky.1_Missense_Mutation_p.V530A|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	530	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TACCAGGTGGTGAACATCTGT	0.527		NaN											0	0	0	0.007413	0	19	28				
SOAT1	6646	broad.mit.edu	37	1	179320465	179320465	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:179320465C>G	uc001gml.2	+	15	1527	c.1464C>G	c.(1462-1464)TTC>TTG	p.F488L	SOAT1_uc010pni.1_Missense_Mutation_p.F423L|SOAT1_uc001gmm.2_Missense_Mutation_p.F430L|SOAT1_uc010pnj.1_Missense_Mutation_p.F224L|SOAT1_uc010pnk.1_Missense_Mutation_p.F423L	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	488	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTCAACTTCATTGTCAATG	0.274		NaN											0	0	0	0.00874	0	39	97				
HMCN1	83872	broad.mit.edu	37	1	186007984	186007984	+	Missense_Mutation	SNP	C	C	T	rs149920975		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:186007984C>T	uc001grq.1	+	38	6104	c.5875C>T	c.(5875-5877)CGT>TGT	p.R1959C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1959	Ig-like C2-type 17.			R -> C (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAAAGATAATCGTCTACTCTC	0.348		NaN											0	0	0	0.004007	0	13	96				
ASPM	259266	broad.mit.edu	37	1	197070512	197070512	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:197070512T>G	uc001gtu.2	-	18	8126	c.7869A>C	c.(7867-7869)GAA>GAC	p.E2623D	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.E471D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2623					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CCTGGTGCTGTTCCTGAATCT	0.343		NaN											0	0	0	0.001855	0	13	12				
TNNI1	7135	broad.mit.edu	37	1	201380568	201380568	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:201380568G>A	uc010ppq.1	-	7	466	c.373C>T	c.(373-375)CGG>TGG	p.R125W	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.R104W	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	125					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						AGCAGGGCCCGGAGCATGGCG	0.597		NaN											0	0	0	0.004007	0	17	20				
OBSCN	84033	broad.mit.edu	37	1	228509288	228509288	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:228509288C>T	uc009xez.1	+	55	14790	c.14746C>T	c.(14746-14748)CGG>TGG	p.R4916W	OBSCN_uc001hsn.2_Missense_Mutation_p.R4916W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4916	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGATGCCCTGCGGCTGGAGTG	0.617		NaN											0	0	0	0.008871	0	17	21				
ACTN2	88	broad.mit.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:236908062C>T	uc001hyf.2	+	12	1596	c.1392C>T	c.(1390-1392)ATC>ATT	p.I464I	ACTN2_uc001hyg.2_Silent_p.I256I|ACTN2_uc009xgi.1_Silent_p.I464I|ACTN2_uc010pxu.1_Silent_p.I153I|ACTN2_uc001hyh.2_Silent_p.I152I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	464	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCAGCCATCGCGCAGGAGC	0.657		NaN											0	0	0	0.00499	0	16	37				
ZP4	57829	broad.mit.edu	37	1	238053789	238053789	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:238053789T>C	uc001hym.2	-	1	147	c.147A>G	c.(145-147)GCA>GCG	p.A49A	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	49	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGGAGACGTTGCCTCCTGGT	0.498		NaN											0	0	0	0.000602	0	4	34				
CHRM3	1131	broad.mit.edu	37	1	240071762	240071762	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071762G>C	uc001hyp.2	+	5	1790	c.1011G>C	c.(1009-1011)TGG>TGC	p.W337C		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	337	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTGACAGTTGGAACAACAATG	0.572		NaN											0	0	0	0.001984	0	7	13				
CHRM3	1131	broad.mit.edu	37	1	240071792	240071792	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071792G>A	uc001hyp.2	+	5	1820	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	347	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCCCTGGAGAACTCCGCCT	0.572		NaN											0	0	0	0.001168	0	5	9				
NLRP3	114548	broad.mit.edu	37	1	247588705	247588705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:247588705G>A	uc001icr.2	+	5	2098	c.1960G>A	c.(1960-1962)GAG>AAG	p.E654K	NLRP3_uc001ics.2_Missense_Mutation_p.E654K|NLRP3_uc001icu.2_Missense_Mutation_p.E654K|NLRP3_uc001icw.2_Missense_Mutation_p.E654K|NLRP3_uc001icv.2_Missense_Mutation_p.E654K|NLRP3_uc010pyw.1_Missense_Mutation_p.E652K|NLRP3_uc001ict.1_Missense_Mutation_p.E652K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	654					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCAAGATTGAGATCAATCT	0.498		NaN											0	0	0	0.008291	0	11	36				
FBXO18	84893	broad.mit.edu	37	10	5955750	5955750	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:5955750A>T	uc001iis.2	+	7	1347	c.1252A>T	c.(1252-1254)AAT>TAT	p.N418Y	FBXO18_uc001iir.2_Missense_Mutation_p.N344Y|FBXO18_uc009xig.2_Missense_Mutation_p.N344Y|FBXO18_uc001iit.2_Missense_Mutation_p.N469Y	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	418					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TCTTCAGGAGAATTCCTGCAC	0.398		NaN											0	0	0	0.001168	0	5	69				
PFKFB3	5209	broad.mit.edu	37	10	6258137	6258137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:6258137G>T	uc001ije.2	+	4	733	c.349G>T	c.(349-351)GAA>TAA	p.E117*	PFKFB3_uc001ijd.2_Nonsense_Mutation_p.E97*|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Nonsense_Mutation_p.E131*|PFKFB3_uc001ijf.2_Nonsense_Mutation_p.E117*	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	117	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CCTGGCGAAAGAAGGGGGACA	0.587		NaN											1	0	8.20599e-20	0.011902	8.81301e-20	41	51				
SUV39H2	79723	broad.mit.edu	37	10	14939477	14939477	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:14939477G>A	uc001inh.2	+	2	686	c.630G>A	c.(628-630)AAG>AAA	p.K210K	SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.K210K|SUV39H2_uc001inj.2_Silent_p.K210K	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	270	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3						CCCTTGTGAAGATTAAAAGAA	0.388		NaN											0	0	0	0.001855	0	12	37				
NMT2	9397	broad.mit.edu	37	10	15174885	15174885	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:15174885C>G	uc001inz.1	-	6	734	c.650G>C	c.(649-651)AGA>ACA	p.R217T	NMT2_uc001ioa.1_Missense_Mutation_p.R204T|NMT2_uc009xjo.1_Missense_Mutation_p.R217T|NMT2_uc010qbz.1_Missense_Mutation_p.R29T	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	217					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						TGAAGACACTCTGACCCCACA	0.493		NaN											0	0	0	0.003163	0	16	55				
LRRTM3	347731	broad.mit.edu	37	10	68686706	68686706	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:68686706G>A	uc001jmz.1	+	2	582	c.32G>A	c.(31-33)GGA>GAA	p.G11E	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G11E	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	11						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CTACTGAGCGGATCAGCTGTA	0.418		NaN											0	0	0	0.004007	0	13	29				
POLR3A	11128	broad.mit.edu	37	10	79740028	79740028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79740028C>A	uc001jzn.2	-	30	3989	c.3895G>T	c.(3895-3897)GAA>TAA	p.E1299*		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1299					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCAGGACTTCACCCTGCGTC	0.517		NaN											1	0	1.15088e-07	0.004007	1.20305e-07	16	22				
POLR3A	11128	broad.mit.edu	37	10	79741314	79741314	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79741314C>T	uc001jzn.2	-	29	3857	c.3763G>A	c.(3763-3765)GAG>AAG	p.E1255K		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1255					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGTTTTCTCCACCTACAGA	0.542		NaN											0	0	0	0.01441	0	127	162				
SEC31B	25956	broad.mit.edu	37	10	102249108	102249108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:102249108C>T	uc001krc.1	-	23	3174	c.3072G>A	c.(3070-3072)ATG>ATA	p.M1024I	SEC31B_uc010qpo.1_Missense_Mutation_p.M1023I|SEC31B_uc001krd.1_Missense_Mutation_p.M561I|SEC31B_uc001krf.1_Missense_Mutation_p.M456I|SEC31B_uc001kre.1_Missense_Mutation_p.M456I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1024	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGTGAGGCTCATAACTGGAG	0.537		NaN											0	0	0	0.014323	0	22	37				
BTBD16	118663	broad.mit.edu	37	10	124036305	124036305	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:124036305G>A	uc001lgc.1	+	3	270	c.19_splice	c.e3-1	p.H7_splice	BTBD16_uc001lgd.1_Silent_p.Q5Q	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16											skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTACCAAGCAGCACAAAGCTC	0.448		NaN											0	0	0	0.004672	0	3	97				
MMP21	118856	broad.mit.edu	37	10	127464241	127464241	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:127464241G>C	uc001liu.2	-	1	150	c.150C>G	c.(148-150)CTC>CTG	p.L50L		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	50					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGCAGCGTGGAGGTCGGCAA	0.682		NaN											0	0	0	0.008361	0	28	28				
DOCK1	1793	broad.mit.edu	37	10	129224163	129224163	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:129224163G>A	uc001ljt.2	+	47	4803	c.4739G>A	c.(4738-4740)AGA>AAA	p.R1580K	DOCK1_uc010qun.1_Missense_Mutation_p.R1601K|DOCK1_uc009yaq.2_Missense_Mutation_p.R575K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1580	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAAGGGATCAGAATCCATGGA	0.493		NaN											0	0	0	0.005524	0	39	191				
BNIP3	664	broad.mit.edu	37	10	133786615	133786615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:133786615G>A	uc001lkv.1	-	3	331	c.205C>T	c.(205-207)CGC>TGC	p.R69C	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.R69C	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	69					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTCTGCGAGCGAGGTGGGCTT	0.468		NaN											0	0	0	0.006999	0	39	118				
MRGPRE	116534	broad.mit.edu	37	11	3249790	3249790	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3249790G>A	uc001lxq.3	-	2	547	c.237C>T	c.(235-237)ATC>ATT	p.I79I		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	79	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCGGGGACGATGGCCACCA	0.622		NaN											0	0	0	0.01441	0	62	31				
CHRNA10	57053	broad.mit.edu	37	11	3687403	3687403	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3687403G>A	uc001lyf.2	-	5	1359	c.1287C>T	c.(1285-1287)TTC>TTT	p.F429F	CHRNA10_uc010qxt.1_Silent_p.F223F|CHRNA10_uc010qxu.1_Silent_p.F223F	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	429	Helical; (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGGCCAGGAAGAAGCGGTCCA	0.627		NaN											0	0	0	0.01441	0	49	20				
OR52B4	143496	broad.mit.edu	37	11	4388815	4388815	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:4388815G>C	uc010qye.1	-	1	711	c.711C>G	c.(709-711)CAC>CAG	p.H237Q		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGAGCTTTGTGGCAAGCAT	0.443		NaN											0	0	0	0.00308	0	8	81				
OR51B6	390058	broad.mit.edu	37	11	5373369	5373369	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:5373369T>A	uc010qzb.1	+	1	632	c.632T>A	c.(631-633)ATC>AAC	p.I211N	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTTTCTCATCATCTTTTTC	0.443		NaN											0	0	0	0.01441	0	44	28				
DBX1	120237	broad.mit.edu	37	11	20181520	20181520	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:20181520G>A	uc001mpw.1	-	1	351	c.351C>T	c.(349-351)TCC>TCT	p.S117S		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGGCCCCGAGGAGAGGATGG	0.642		NaN											0	0	0	0.009096	0	4	20				
GAS2	2620	broad.mit.edu	37	11	22759311	22759311	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:22759311C>G	uc009yie.2	+	5	776	c.470C>G	c.(469-471)GCC>GGC	p.A157G	GAS2_uc001mqm.2_Missense_Mutation_p.A157G|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.A157G	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	157					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						CGGATTGCAGCCAGGTAGGTC	0.468		NaN											0	0	0	0.013537	0	12	52				
C11orf49	79096	broad.mit.edu	37	11	47183188	47183188	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:47183188G>A	uc001ndp.2	+	9	1101	c.995G>A	c.(994-996)TGA>TAA	p.*332*	C11orf49_uc001nds.2_Intron|C11orf49_uc001ndq.2_3'UTR|C11orf49_uc001ndr.2_Silent_p.*338*|C11orf49_uc010rgx.1_Silent_p.*235*|C11orf49_uc010rgy.1_Silent_p.*323*|C11orf49_uc010rgz.1_Silent_p.*248*	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	332											0						TCGGAGACTTGAGGAGTCCAA	0.622		NaN									OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	28	10				
OR5L1	219437	broad.mit.edu	37	11	55579623	55579623	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55579623G>A	uc001nhw.1	+	1	681	c.681G>A	c.(679-681)AAG>AAA	p.K227K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				CCATCCTGAAGATGGGCTCTG	0.498		NaN											0	0	0	0.00278	0	24	73				
SPRYD5	84767	broad.mit.edu	37	11	55658689	55658689	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55658689G>C	uc010rip.1	+	7	1032	c.940G>C	c.(940-942)GAC>CAC	p.D314H	SPRYD5_uc010riq.1_Missense_Mutation_p.D171H	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	314	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TGTTGGATGTGACCCTCAAGA	0.388		NaN											0	0	0	0.01441	0	80	46				
PC	5091	broad.mit.edu	37	11	66618514	66618514	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:66618514G>C	uc001ojn.1	-	15	2269	c.2220C>G	c.(2218-2220)ATC>ATG	p.I740M	PC_uc001ojo.1_Missense_Mutation_p.I740M|PC_uc001ojp.1_Missense_Mutation_p.I740M|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	740	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCACCTTGATGCACAGGA	0.647		NaN											0	0	0	0.003755	0	37	12				
SAPS3	55291	broad.mit.edu	37	11	68363617	68363617	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:68363617G>A	uc001onw.2	+	19	2236	c.1969G>A	c.(1969-1971)GCA>ACA	p.A657T	SAPS3_uc001onv.2_Missense_Mutation_p.A657T|SAPS3_uc001ony.3_Missense_Mutation_p.A628T|SAPS3_uc001onx.2_Missense_Mutation_p.A651T|SAPS3_uc009ysh.2_Missense_Mutation_p.A577T|SAPS3_uc001onu.2_Missense_Mutation_p.A577T|SAPS3_uc010rqc.1_Missense_Mutation_p.A425T|SAPS3_uc010rqd.1_Missense_Mutation_p.A340T|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.A107T	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	657					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			AGAAGATGGAGCAAAGCAAGA	0.463		NaN											0	0	0	0.004672	0	3	75				
USP35	57558	broad.mit.edu	37	11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:77921098G>A	uc009yva.1	+	10	2443	c.2197G>A	c.(2197-2199)GAA>AAA	p.E733K	USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	733					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.333		NaN											0	0	0	0.013726	0	34	20				
NOX4	50507	broad.mit.edu	37	11	89106617	89106617	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:89106617A>G	uc001pct.2	-	12	1357	c.1118T>C	c.(1117-1119)ATA>ACA	p.I373T	NOX4_uc009yvr.2_Missense_Mutation_p.I348T|NOX4_uc001pcu.2_Missense_Mutation_p.I299T|NOX4_uc001pcw.2_Missense_Mutation_p.I66T|NOX4_uc001pcx.2_Missense_Mutation_p.I66T|NOX4_uc001pcv.2_Missense_Mutation_p.I373T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.I207T|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.I349T|NOX4_uc009yvq.2_Missense_Mutation_p.I349T	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	373	FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTCCTACTATTTTAAGATG	0.264		NaN											0	0	0	0.01441	0	104	48				
FAT3	120114	broad.mit.edu	37	11	92539552	92539552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:92539552G>A	uc001pdj.3	+	11	9135	c.9118G>A	c.(9118-9120)GAA>AAA	p.E3040K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3040	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTACTTCCTGAAGACATTCC	0.358		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.008291	0	11	5				
VPS11	55823	broad.mit.edu	37	11	118948238	118948238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:118948238G>A	uc010ryx.1	+	10	1495	c.1453G>A	c.(1453-1455)GAT>AAT	p.D485N	VPS11_uc010ryy.1_Missense_Mutation_p.D331N	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	485	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGTCCACTTTGATGTGGAGAC	0.507		NaN											0	0	0	0.005524	0	33	12				
OR10S1	219873	broad.mit.edu	37	11	123848240	123848240	+	Silent	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:123848240A>C	uc001pzm.1	-	1	159	c.159T>G	c.(157-159)GCT>GCG	p.A53A		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	53	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGATTCCCAGCCACAGTGA	0.532		NaN											0	0	0	0.00245	0	14	17				
SLC6A13	6540	broad.mit.edu	37	12	344379	344379	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:344379G>A	uc001qic.1	-	7	761	c.708C>T	c.(706-708)TTC>TTT	p.F236F	SLC6A13_uc009zdj.1_Silent_p.F236F|SLC6A13_uc010sdl.1_Silent_p.F144F|SLC6A13_uc010sdm.1_Silent_p.F117F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	236	Helical; Name=5; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGTGGCCGTGAAGTACACCA	0.433		NaN											0	0	0	0.001984	0	5	20				
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:1940449C>T	uc001qjt.2	+	4	1222	c.416C>T	c.(415-417)TCG>TTG	p.S139L	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139	Extracellular (Potential).|LRR 3.					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652		NaN											0	0	0	0.010504	0	20	58				
PZP	5858	broad.mit.edu	37	12	9346775	9346775	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:9346775C>G	uc001qvl.2	-	11	1181	c.1152G>C	c.(1150-1152)GTG>GTC	p.V384V	PZP_uc009zgl.2_Silent_p.V253V	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TGGCGTCATTCACAGAGATGA	0.408		NaN											0	0	0	0.010504	0	20	38				
SFRS2IP	9169	broad.mit.edu	37	12	46342235	46342235	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:46342235G>C	uc001rox.2	-	5	670	c.383C>G	c.(382-384)TCT>TGT	p.S128C	SFRS2IP_uc001roy.1_Missense_Mutation_p.S202C	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	128					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		ACAGCTTTTAGAATTTTCATG	0.313		NaN											0	0	0	0.001855	0	14	46				
SUOX	6821	broad.mit.edu	37	12	56397462	56397462	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56397462G>C	uc001six.2	+	6	615	c.289G>C	c.(289-291)GAG>CAG	p.E97Q	SUOX_uc001siy.2_Missense_Mutation_p.E97Q|SUOX_uc001siz.2_Missense_Mutation_p.E97Q|SUOX_uc001sja.2_Missense_Mutation_p.E97Q	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	97	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACCAGCCCTGAGACTGGGAT	0.512		NaN											0	0	0	0.007413	0	19	86				
ERBB3	2065	broad.mit.edu	37	12	56486584	56486584	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56486584G>A	uc001sjh.2	+	10	1356	c.1163G>A	c.(1162-1164)CGG>CAG	p.R388Q	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R329Q|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjj.1_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	388	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTCTTCCGGACAGTACGG	0.448		NaN											0	0	0	0.00245	0	12	123		Valid		
LRP1	4035	broad.mit.edu	37	12	57579595	57579595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:57579595C>T	uc001snd.2	+	41	7211	c.6745C>T	c.(6745-6747)CCG>TCG	p.P2249S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2249	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCACCTCTCCGGGCACCCC	0.577		NaN											0	0	0	0.01441	0	47	44				
USP15	9958	broad.mit.edu	37	12	62790135	62790135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:62790135G>C	uc001src.1	+	20	2640	c.2631G>C	c.(2629-2631)CTG>CTC	p.L877L	USP15_uc001srb.1_Silent_p.L848L	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	877					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTATAATCTGATTGCTGTTT	0.393		NaN											0	0	0	0.013537	0	12	54				
CAPS2	84698	broad.mit.edu	37	12	75676043	75676043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:75676043G>A	uc001sxk.3	-	17	1854	c.1657C>T	c.(1657-1659)CAA>TAA	p.Q553*	CAPS2_uc001sxm.3_Nonsense_Mutation_p.Q321*|CAPS2_uc009zsa.2_Nonsense_Mutation_p.Q143*|CAPS2_uc001sxi.3_Nonsense_Mutation_p.Q289*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.Q464*|CAPS2_uc001sxl.3_Nonsense_Mutation_p.Q534*	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	553							calcium ion binding			ovary(2)	2						GAAATTACTTGAGAATGCTTC	0.284		NaN											0	0	0	0.010504	0	21	106				
MYF5	4617	broad.mit.edu	37	12	81111211	81111211	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:81111211C>T	uc001szg.2	+	1	504	c.369C>T	c.(367-369)ATC>ATT	p.I123I		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	123	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						AGGTGGAGATCCTCAGGAATG	0.597		NaN											0	0	0	0.00278	0	22	134				
CCDC38	120935	broad.mit.edu	37	12	96312708	96312708	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:96312708G>C	uc001tek.1	-	3	318	c.84C>G	c.(82-84)ATC>ATG	p.I28M		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	28										skin(1)	1						CTCTGAAAAAGATCTTATAAG	0.338		NaN											0	0	0	0.001855	0	12	86				
GAS2L3	283431	broad.mit.edu	37	12	101017394	101017394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:101017394C>T	uc001thu.2	+	10	1037	c.811C>T	c.(811-813)CAA>TAA	p.Q271*	GAS2L3_uc009zty.2_Nonsense_Mutation_p.Q271*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.Q167*	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	271	GAR.				cell cycle arrest					skin(1)	1						GGATACTCTTCAAGGATTTTT	0.378		NaN											0	0	0	0.01441	0	74	59				
APPL2	55198	broad.mit.edu	37	12	105570747	105570747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:105570747C>G	uc001tlf.1	-	19	1937	c.1719G>C	c.(1717-1719)AAG>AAC	p.K573N	APPL2_uc010swt.1_Missense_Mutation_p.K530N|APPL2_uc001tlg.1_Missense_Mutation_p.K327N|APPL2_uc010swu.1_Missense_Mutation_p.K579N	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	573	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						CAACCAGTCTCTTGTTTTCTT	0.398		NaN											0	0	0	0.007291	0	30	34				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:106820987C>T	uc001tlp.2	+	13	1336	c.1114C>T	c.(1114-1116)CTT>TTT	p.L372F	POLR3B_uc001tlq.2_Missense_Mutation_p.L314F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTATCTCTTCTTTTTGAAGA	0.274		NaN											0	0	0	0.00308	0	6	19				
MVK	4598	broad.mit.edu	37	12	110024578	110024578	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:110024578T>C	uc001toy.3	+	7	835	c.651T>C	c.(649-651)CAT>CAC	p.H217H	MVK_uc009zvk.2_Silent_p.H217H|MVK_uc010sxr.1_Silent_p.H165H|MVK_uc001toz.3_Silent_p.H23H|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						TCCGATACCATCAAGGGAAGA	0.507		NaN											0	0	0	0.00308	0	7	124				
C12orf43	64897	broad.mit.edu	37	12	121454205	121454205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121454205G>C	uc001tzh.1	-	1	96	c.73C>G	c.(73-75)CGG>GGG	p.R25G	C12orf43_uc009zxa.1_Missense_Mutation_p.R25G|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.R25G|C12orf43_uc001tzi.1_Missense_Mutation_p.R25G	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	25											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGCGGCACCGCTCCAGCTCC	0.622		NaN											0	0	0	0.001168	0	5	74				
RNF34	80196	broad.mit.edu	37	12	121867872	121867872	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121867872G>C	uc001uam.1	+	7	1213	c.1099G>C	c.(1099-1101)GAA>CAA	p.E367Q	KDM2B_uc001uaq.2_3'UTR|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_3'UTR|KDM2B_uc001uas.2_3'UTR|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_3'UTR|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_RNA	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AAATGGTCCAGAAAGCAGTGC	0.483		NaN											0	0	0	0.001855	0	12	59				
ULK1	8408	broad.mit.edu	37	12	132403850	132403850	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132403850G>A	uc001uje.2	+	24	2873	c.2605G>A	c.(2605-2607)GAG>AAG	p.E869K		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	869					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGCGCCAGTGAGGCGGCGGG	0.682		NaN											0	0	0	0.003163	0	14	33				
PUS1	80324	broad.mit.edu	37	12	132426135	132426135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426135G>C	uc001ujf.2	+	5	1322	c.843G>C	c.(841-843)GTG>GTC	p.V281V	PUS1_uc001ujg.2_Silent_p.V253V|PUS1_uc001ujh.2_Silent_p.V253V|PUS1_uc001uji.2_Silent_p.V228V	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	281						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGTTTGCGGTGATCAGGGTGA	0.607		NaN											0	0	0	0.01441	0	60	56				
PUS1	80324	broad.mit.edu	37	12	132426465	132426465	+	Silent	SNP	G	G	C	rs142637371		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426465G>C	uc001ujf.2	+	5	1652	c.1173G>C	c.(1171-1173)CTG>CTC	p.L391L	PUS1_uc001ujg.2_Silent_p.L363L|PUS1_uc001ujh.2_Silent_p.L363L|PUS1_uc001uji.2_Silent_p.L338L	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	391						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCCAGTGGCTGAGCACCTTGC	0.637		NaN											0	0	0	0.012213	0	33	24				
SKA3	221150	broad.mit.edu	37	13	21736001	21736001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:21736001C>T	uc001unt.2	-	5	851	c.757G>A	c.(757-759)GAT>AAT	p.D253N	SKA3_uc001unv.2_Missense_Mutation_p.D171N|SKA3_uc001unu.2_Missense_Mutation_p.D253N	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	253					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						GATTCTGTATCTATGGCCTCC	0.363		NaN											0	0	0	0.001984	0	6	15				
FAM48A	55578	broad.mit.edu	37	13	37584737	37584737	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:37584737C>T	uc001uwg.2	-	25	2402	c.2154G>A	c.(2152-2154)CAG>CAA	p.Q718Q	FAM48A_uc010abt.2_Intron|FAM48A_uc001uwh.2_Intron|FAM48A_uc001uwi.2_Intron|FAM48A_uc001uwj.2_Intron|FAM48A_uc001uwk.2_Intron|FAM48A_uc001uwd.2_Intron|FAM48A_uc001uwe.2_Silent_p.Q202Q|FAM48A_uc001uwf.2_Silent_p.Q284Q	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	718	Gln-rich.				autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GCTGGAATCTCTGCTGAGGAA	0.463		NaN											0	0	0	0.00278	0	21	56				
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:73334716G>A	uc001vix.3	-	20	3118	c.2744C>T	c.(2743-2745)TCA>TTA	p.S915L	DIS3_uc001viy.3_Missense_Mutation_p.S885L|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	915					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328		NaN								Multiple Myeloma(4;0.011)			0	0	0	0.01441	0	53	36				
TPP2	7174	broad.mit.edu	37	13	103301811	103301811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:103301811C>G	uc001vpi.3	+	23	3030	c.2927C>G	c.(2926-2928)TCA>TGA	p.S976*		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	976					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAACATTGTCAAAGACTGAA	0.303		NaN											0	0	0	0.004007	0	12	72				
ARHGEF7	8874	broad.mit.edu	37	13	111932947	111932947	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:111932947G>C	uc001vrs.2	+	16	1961	c.1711G>C	c.(1711-1713)GAG>CAG	p.E571Q	ARHGEF7_uc001vrr.2_Missense_Mutation_p.E550Q|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E521Q|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E393Q|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E468Q|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E315Q|ARHGEF7_uc001vry.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	571	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAATGGGTGGAGCACCTACA	0.498		NaN											0	0	0	0.01441	0	75	78				
OR10G2	26534	broad.mit.edu	37	14	22102290	22102290	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102290C>A	uc010tmc.1	-	1	709	c.709G>T	c.(709-711)GAT>TAT	p.D237Y		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGCCTCCCATCAGCGGTGCGT	0.542		NaN											1	0	7.45023e-12	0.010504	7.9146e-12	21	24				
OR10G2	26534	broad.mit.edu	37	14	22102306	22102306	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102306C>T	uc010tmc.1	-	1	693	c.693G>A	c.(691-693)CTG>CTA	p.L231L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGCGTATCTTCAGGATGGCAT	0.532		NaN											0	0	0	0.006122	0	18	24				
PSMB5	5693	broad.mit.edu	37	14	23502856	23502856	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:23502856C>G	uc001wii.2	-	2	490	c.226G>C	c.(226-228)GAC>CAC	p.D76H	PSMB5_uc001wij.2_Missense_Mutation_p.D76H|PSMB5_uc010tni.1_5'UTR	NM_002797	NP_002788	P28074	PSB5_HUMAN	proteasome beta 5 subunit isoform 1	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GCCCTGGAGTCAGCTGCAACT	0.507		NaN											0	0	0	0.003163	0	14	27				
INSM2	84684	broad.mit.edu	37	14	36005008	36005008	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:36005008C>G	uc001wth.1	+	1	1761	c.1550C>G	c.(1549-1551)TCT>TGT	p.S517C		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGCGGGCCATCTGACGGGAGT	0.627		NaN											0	0	0	0.010729	0	12	22				
HIF1A	3091	broad.mit.edu	37	14	62207727	62207727	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:62207727G>A	uc001xfq.2	+	12	2318	c.1914G>A	c.(1912-1914)TTG>TTA	p.L638L	HIF1A_uc001xfr.2_Silent_p.L638L|HIF1A_uc001xfs.2_Silent_p.L639L	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	638	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTAAAATATTGATTGCATCTC	0.408		NaN											0	0	0	0.005443	0	27	28				
CYP46A1	10858	broad.mit.edu	37	14	100157465	100157465	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:100157465G>A	uc001ygo.2	+	2	167	c.167G>A	c.(166-168)GGT>GAT	p.G56D	CYP46A1_uc001ygn.1_Missense_Mutation_p.V4M	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	56					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GATGAGGTTGGTGGCCGTGTG	0.493		NaN											0	0	0	0.010771	0	38	66				
GCHFR	2644	broad.mit.edu	37	15	41056393	41056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056393C>T	uc001zmr.1	+	1	109	c.15C>T	c.(13-15)CTC>CTT	p.L5L	GCHFR_uc010ucr.1_Silent_p.L5L	NM_005258	NP_005249	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulatory	5					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				ovary(1)	1		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCTACCTGCTCATCAGCACCC	0.701		NaN											0	0	0	0.009096	0	4	1				
GCHFR	2644	broad.mit.edu	37	15	41056396	41056396	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056396C>T	uc001zmr.1	+	1	112	c.18C>T	c.(16-18)ATC>ATT	p.I6I	GCHFR_uc010ucr.1_Silent_p.I6I	NM_005258	NP_005249	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulatory	6					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				ovary(1)	1		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACCTGCTCATCAGCACCCAGA	0.701		NaN											0	0	0	0.000602	0	5	1				
UNC13C	440279	broad.mit.edu	37	15	54630580	54630580	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:54630580C>T	uc002ack.2	+	15	4606	c.4606C>T	c.(4606-4608)CCA>TCA	p.P1536S	UNC13C_uc002acl.2_Missense_Mutation_p.P366S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1536					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAAAGCCCCCCAAAAGCGAG	0.403		NaN											0	0	0	0.01441	0	53	35				
RNF111	54778	broad.mit.edu	37	15	59350651	59350651	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350651C>T	uc002afv.2	+	5	1547	c.1268C>T	c.(1267-1269)TCT>TTT	p.S423F	RNF111_uc002afs.2_Missense_Mutation_p.S423F|RNF111_uc002aft.2_Missense_Mutation_p.S423F|RNF111_uc002afu.2_Missense_Mutation_p.S423F|RNF111_uc002afw.2_Missense_Mutation_p.S423F	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	423	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		GAGCAGGCCTCTGATACTGCT	0.458		NaN											0	0	0	0.01441	0	154	113				
RNF111	54778	broad.mit.edu	37	15	59350705	59350705	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350705C>T	uc002afv.2	+	5	1601	c.1322C>T	c.(1321-1323)TCA>TTA	p.S441L	RNF111_uc002afs.2_Missense_Mutation_p.S441L|RNF111_uc002aft.2_Missense_Mutation_p.S441L|RNF111_uc002afu.2_Missense_Mutation_p.S441L|RNF111_uc002afw.2_Missense_Mutation_p.S441L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	441	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		TCAGAGACTTCAGCTACTCTT	0.448		NaN											0	0	0	0.01441	0	129	112				
RNF111	54778	broad.mit.edu	37	15	59350741	59350741	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350741C>G	uc002afv.2	+	5	1637	c.1358C>G	c.(1357-1359)TCT>TGT	p.S453C	RNF111_uc002afs.2_Missense_Mutation_p.S453C|RNF111_uc002aft.2_Missense_Mutation_p.S453C|RNF111_uc002afu.2_Missense_Mutation_p.S453C|RNF111_uc002afw.2_Missense_Mutation_p.S453C	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	453	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		ACTGGCACTTCTATAGGAGGT	0.413		NaN											0	0	0	0.01441	0	118	78				
AGBL1	123624	broad.mit.edu	37	15	86790936	86790936	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:86790936C>T	uc002blz.1	+	6	503	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	141					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACCGAGGCTACGTCACCAGCC	0.592		NaN											0	0	0	0.006214	0	10	8				
UBN1	29855	broad.mit.edu	37	16	4908646	4908646	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:4908646C>T	uc002cyb.2	+	4	753	c.414C>T	c.(412-414)TTC>TTT	p.F138F	UBN1_uc010uxw.1_Silent_p.F138F|UBN1_uc002cyc.2_Silent_p.F138F	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	138	Sufficient for interaction with HIRA.			F->E: Strongly diminishes interaction with HIRA; when associated with E-139 and L-140.	chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CCGACTCCTTCATCGATAACT	0.463		NaN											0	0	0	0.006214	0	10	16				
INO80E	283899	broad.mit.edu	37	16	30007659	30007659	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:30007659G>C	uc002dvg.1	+	1	129	c.28G>C	c.(28-30)GAC>CAC	p.D10H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.D10H|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.D10H|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	10	Potential.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1						CGGCGAAGTGGACTACAAAAA	0.652		NaN											0	0	0	0.001168	0	5	10				
TPPP3	51673	broad.mit.edu	37	16	67424463	67424463	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67424463G>C	uc002esz.2	-	2	1096	c.261C>G	c.(259-261)TTC>TTG	p.F87L	TPPP3_uc002eta.2_Missense_Mutation_p.F87L|TPPP3_uc002etb.2_Missense_Mutation_p.F87L	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	87					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTTCCCCTTGAATCTCTTGG	0.582		NaN											0	0	0	0.01441	0	158	88				
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67986272C>A	uc002euz.2	-	7	873	c.732G>T	c.(730-732)TCG>TCT	p.S244S	SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.R166L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	244					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453		NaN											1	0	1.32136e-16	0.00874	1.41522e-16	44	16				
COG8	84342	broad.mit.edu	37	16	69373430	69373430	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:69373430G>A	uc002ewy.2	-	1	97	c.26C>T	c.(25-27)TCG>TTG	p.S9L	COG8_uc002ewz.3_Missense_Mutation_p.S9L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	9					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						CGTGGCTACCGATGGGATAGT	0.652		NaN									OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	19	4				
ZC3H18	124245	broad.mit.edu	37	16	88677707	88677707	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:88677707G>A	uc002fky.2	+	8	1438	c.1238G>A	c.(1237-1239)AGA>AAA	p.R413K	ZC3H18_uc010voy.1_Missense_Mutation_p.R296K|ZC3H18_uc010voz.1_Missense_Mutation_p.R437K|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	413	Potential.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagagaacagacagcgcgag	0		NaN											0	0	0	0.010504	0	22	6				
TUBB3	10381	broad.mit.edu	37	16	90001896	90001896	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:90001896C>T	uc002fph.1	+	4	1102	c.1037C>T	c.(1036-1038)CCC>CTC	p.P346L	TUBB3_uc002fpf.2_Missense_Mutation_p.P693L|TUBB3_uc010ciz.1_Missense_Mutation_p.P274L|TUBB3_uc002fpg.1_Missense_Mutation_p.P200L|TUBB3_uc002fpi.1_Missense_Mutation_p.P274L|TUBB3_uc002fpj.1_Missense_Mutation_p.P274L|TUBB3_uc010cjb.1_Missense_Mutation_p.P200L|TUBB3_uc002fpk.1_Missense_Mutation_p.P200L	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	346					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGTGGATCCCCAACAACGTG	0.612		NaN											0	0	0	0.01441	0	139	60				
SMYD4	114826	broad.mit.edu	37	17	1703353	1703353	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1703353G>C	uc002ftm.3	-	5	1503	c.1335C>G	c.(1333-1335)CTC>CTG	p.L445L	SMYD4_uc002ftn.1_Silent_p.L300L	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	445							zinc ion binding			skin(3)|kidney(2)	5						CAGAAACACAGAGAGCACAGA	0.453		NaN											0	0	0	0.004289	0	38	33				
ATP1B2	482	broad.mit.edu	37	17	7554879	7554879	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:7554879G>C	uc002gif.1	+	1	626	c.43G>C	c.(43-45)GAG>CAG	p.E15Q		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	15	Cytoplasmic (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAGGTGGTTGAGGAGTGGAA	0.697		NaN											0	0	0	0.004672	0	2	6				
ALOXE3	59344	broad.mit.edu	37	17	8018956	8018956	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8018956G>A	uc010cnr.2	-	4	773	c.403C>T	c.(403-405)CGG>TGG	p.R135W	ALOXE3_uc002gka.2_Missense_Mutation_p.R291W|ALOXE3_uc010vuo.1_Missense_Mutation_p.R267W|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	135	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						CGGAGCTCCCGTGTCCTGTGA	0.473		NaN											0	0	0	0.007835	0	36	26				
NTN1	9423	broad.mit.edu	37	17	8926345	8926345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8926345G>A	uc002glw.3	+	2	762	c.655G>A	c.(655-657)GCC>ACC	p.A219T		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	219	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						CGGCCTCATCGCCTTCAGCAC	0.701		NaN											0	0	0	0.000602	0	5	8				
TRPV2	51393	broad.mit.edu	37	17	16327060	16327060	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:16327060C>T	uc002gpy.2	+	5	1270	c.903C>T	c.(901-903)GCC>GCT	p.A301A	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	301	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 6.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGAAGCTGGCCGCCAAGGAGG	0.597		NaN											0	0	0	0.00499	0	16	17				
PLD6	201164	broad.mit.edu	37	17	17109483	17109483	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:17109483C>T	uc002gqz.2	-	1	150	c.118G>A	c.(118-120)GAG>AAG	p.E40K	PLD6_uc010cpn.2_Intron	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	phospholipase D6	40	Cytoplasmic (Potential).				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity				0						AACAGCGCCTcgcgccgcggc	0.667		NaN											0	0	0	0.000602	0	5	3				
MLLT6	4302	broad.mit.edu	37	17	36863784	36863784	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:36863784G>A	uc002hqi.3	+	3	248	c.235G>A	c.(235-237)GAT>AAT	p.D79N	MLLT6_uc010wdr.1_Missense_Mutation_p.D79N|MLLT6_uc010cvm.1_Missense_Mutation_p.D79N	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	79					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GAAGAGGACTGATAATGGAGG	0.612		NaN	T	MLL	AL								0	0	0	0.010504	0	19	90				
CACNB1	782	broad.mit.edu	37	17	37331640	37331640	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37331640G>A	uc002hrm.1	-	14	1756	c.1603C>T	c.(1603-1605)CCT>TCT	p.P535S	CACNB1_uc002hrl.1_Missense_Mutation_p.P307S	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	535					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCCCTGCAGGGTCTCCAAGC	0.657		NaN									OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	66	357				
MED1	5469	broad.mit.edu	37	17	37564338	37564338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564338G>A	uc002hrv.3	-	17	4348	c.4136C>T	c.(4135-4137)TCA>TTA	p.S1379L	MED1_uc010wee.1_Missense_Mutation_p.S1207L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1379	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTGACTCTGAGGTCTTCTT	0.443		NaN								HNSCC(31;0.082)			0	0	0	0.01441	0	52	76				
MED1	5469	broad.mit.edu	37	17	37564821	37564821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564821G>C	uc002hrv.3	-	17	3865	c.3653C>G	c.(3652-3654)TCC>TGC	p.S1218C	MED1_uc010wee.1_Missense_Mutation_p.S1046C|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1218	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTTTAGAGGATGGAGGAGT	0.478		NaN								HNSCC(31;0.082)			0	0	0	0.005524	0	38	30				
DCAKD	79877	broad.mit.edu	37	17	43112207	43112207	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:43112207G>A	uc002ihx.2	-	1	303	c.47C>T	c.(46-48)TCA>TTA	p.S16L	DCAKD_uc010daa.1_Missense_Mutation_p.S16L|DCAKD_uc010dab.1_Missense_Mutation_p.S16L|DCAKD_uc002ihy.2_Missense_Mutation_p.S16L	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	16	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity				0		Prostate(33;0.155)				CTGGATCACTGAGCTCTTGCC	0.612		NaN											0	0	0	0.004482	0	8	46				
CDC27	996	broad.mit.edu	37	17	45199920	45199920	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:45199920G>A	uc002ild.3	-	18	2409	c.2282C>T	c.(2281-2283)TCT>TTT	p.S761F	CDC27_uc002ile.3_Missense_Mutation_p.S767F|CDC27_uc002ilf.3_Missense_Mutation_p.S760F|CDC27_uc010wkp.1_Missense_Mutation_p.S700F|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	761	TPR 9.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						CATAGCCCAAGAGAAATTCAT	0.383		NaN											0	0	0	0.012213	0	34	38				
DLX3	1747	broad.mit.edu	37	17	48068882	48068882	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48068882C>T	uc002ipy.2	-	3	1089	c.863G>A	c.(862-864)TGA>TAA	p.*288*		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GATGGGTGCTCAGTACACAGC	0.642		NaN											0	0	0	0.000602	0	5	26				
TOB1	10140	broad.mit.edu	37	17	48940478	48940478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48940478G>A	uc002isw.2	-	1	936	c.901C>T	c.(901-903)CTC>TTC	p.L301F	TOB1_uc010wmy.1_Missense_Mutation_p.L301F|TOB1_uc010wmz.1_Missense_Mutation_p.L301F	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	301					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGTACTGGAGAGGACTGAGG	0.413		NaN											0	0	0	0.01441	0	43	47				
NME1-NME2	654364	broad.mit.edu	37	17	49231768	49231768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:49231768C>T	uc002itk.2	+	2	287	c.34C>T	c.(34-36)CAA>TAA	p.Q12*	NME1_uc010dbx.1_Nonsense_Mutation_p.Q12*|NME1_uc002ith.1_Nonsense_Mutation_p.Q12*|NME1_uc002iti.1_Intron|NME1-NME2_uc002itj.2_Intron	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	Error:Variant_position_missing_in_P22392_after_alignment					cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GATCGTCTTTCAAGGCGAGGG	0.308		NaN											0	0	0	0.003755	0	31	99				
VEZF1	7716	broad.mit.edu	37	17	56060115	56060115	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:56060115C>T	uc002ivf.1	-	2	816	c.673G>A	c.(673-675)GAA>AAA	p.E225K	VEZF1_uc010dcn.1_Missense_Mutation_p.E69K	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	225					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						ATGCCTCCTTCATGAGACCTC	0.408		NaN											0	0	0	0.004007	0	16	100				
TBX2	6909	broad.mit.edu	37	17	59482604	59482604	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:59482604G>C	uc010wox.1	+	6	1374	c.1093G>C	c.(1093-1095)GAG>CAG	p.E365Q	TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.E211Q	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	365					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CCCGGAGCCTGAGCGGTTGAG	0.741		NaN											0	0	0	0.000602	0	5	9				
DDX42	11325	broad.mit.edu	37	17	61895626	61895626	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:61895626G>C	uc002jbu.2	+	19	2942	c.2685G>C	c.(2683-2685)AAG>AAC	p.K895N	DDX42_uc002jbv.2_Missense_Mutation_p.K895N|DDX42_uc002jbx.2_Missense_Mutation_p.K631N|DDX42_uc002jby.2_Missense_Mutation_p.K441N|DDX42_uc010wps.1_Missense_Mutation_p.K263N	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	895					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						GTGAGAGCAAGATGGAGCCCA	0.547		NaN											0	0	0	0.006999	0	43	63				
GPRC5C	55890	broad.mit.edu	37	17	72436224	72436224	+	Silent	SNP	C	C	T	rs148101331		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:72436224C>T	uc002jks.2	+	1	348	c.309C>T	c.(307-309)CTC>CTT	p.L103L	GPRC5C_uc002jkp.2_Silent_p.L148L|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.L115L|GPRC5C_uc002jkt.2_Silent_p.L103L|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	103	Helical; Name=2; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						TCTTCTGCCTCGTGTTTGCCT	0.607		NaN											0	0	0	0.00623	0	38	69				
CASKIN2	57513	broad.mit.edu	37	17	73503147	73503147	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:73503147C>T	uc002joc.2	-	5	858	c.308G>A	c.(307-309)CGC>CAC	p.R103H	CASKIN2_uc010wsc.1_Missense_Mutation_p.R21H|CASKIN2_uc002jod.2_Missense_Mutation_p.R103H	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	103	ANK 2.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCAGAGGCGCGCAGCAGCAG	0.662		NaN											0	0	0	0.00308	0	8	20				
UBE2O	63893	broad.mit.edu	37	17	74388108	74388108	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:74388108G>A	uc002jrm.3	-	16	3098	c.3033C>T	c.(3031-3033)ATC>ATT	p.I1011I	UBE2O_uc002jrl.3_Silent_p.I615I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1011							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CGGCTGGGTAGATGTTGGGGA	0.592		NaN											0	0	0	0.00278	0	21	25				
CBX4	8535	broad.mit.edu	37	17	77808594	77808594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:77808594C>A	uc002jxe.2	-	5	1010	c.847G>T	c.(847-849)GAG>TAG	p.E283*		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	283	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTGCCACCTCGCCGGACTTG	0.592		NaN									OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.25985e-27	0.01441	3.53978e-27	75	103				
LPIN2	9663	broad.mit.edu	37	18	2925292	2925292	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:2925292G>A	uc002klo.2	-	14	2107	c.1868C>T	c.(1867-1869)CCC>CTC	p.P623L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	623					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGCTCTGTGGGGATGGGGTC	0.547		NaN											0	0	0	0.003755	0	35	111				
MYO5B	4645	broad.mit.edu	37	18	47500848	47500848	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:47500848G>C	uc002leb.2	-	10	1482	c.1194C>G	c.(1192-1194)ATC>ATG	p.I398M	MYO5B_uc002lec.1_Missense_Mutation_p.I397M	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	398	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TGCGCGCATTGATCACCTGCT	0.582		NaN											0	0	0	0.004656	0	27	29				
ZNF407	55628	broad.mit.edu	37	18	72347227	72347227	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:72347227G>C	uc002llw.2	+	1	4309	c.4252G>C	c.(4252-4254)GAT>CAT	p.D1418H	ZNF407_uc010xfc.1_Missense_Mutation_p.D1418H|ZNF407_uc010dqu.1_Missense_Mutation_p.D1418H|ZNF407_uc002llu.2_Missense_Mutation_p.D1417H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCGCTGTGATGATTGTGGCTT	0.438		NaN											0	0	0	0.004482	0	9	31				
SH3GL1	6455	broad.mit.edu	37	19	4363857	4363857	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4363857C>T	uc002maj.2	-	6	590	c.484G>A	c.(484-486)GAG>AAG	p.E162K	SH3GL1_uc002mak.2_Missense_Mutation_p.E98K|SH3GL1_uc010xig.1_Missense_Mutation_p.E114K	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	162	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGGCGGCCCTCCAGTTTCTTC	0.627		NaN	T	MLL	AL								0	0	0	0.003271	0	32	26				
SH3GL1	6455	broad.mit.edu	37	19	4364106	4364106	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4364106C>T	uc002maj.2	-	5	550	c.444G>A	c.(442-444)GAG>GAA	p.E148E	SH3GL1_uc002mak.2_Silent_p.E84E|SH3GL1_uc010xig.1_Silent_p.E100E	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	148	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCAGGTCTTTCTCGCACAGGT	0.632		NaN	T	MLL	AL								0	0	0	0.00333	0	23	15				
C19orf45	374877	broad.mit.edu	37	19	7565879	7565879	+	Silent	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7565879G>T	uc002mgm.2	+	2	312	c.171G>T	c.(169-171)CCG>CCT	p.P57P		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	57											0						GGGAGCCGCCGAGCCTGCAGC	0.736		NaN											1	0	0.00198382	0.001984	0.00206275	7	7				
EVI5L	115704	broad.mit.edu	37	19	7928478	7928478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7928478G>A	uc002min.2	+	19	2429	c.2275G>A	c.(2275-2277)GAT>AAT	p.D759N	EVI5L_uc010xjz.1_Missense_Mutation_p.D770N	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	759						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GTCCCCGCGCGATGCGCGCTT	0.687		NaN											0	0	0	0.010729	0	9	16				
ADAMTS10	81794	broad.mit.edu	37	19	8654126	8654126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654126C>T	uc002mkj.1	-	18	2432	c.2158G>A	c.(2158-2160)GGG>AGG	p.G720R	ADAMTS10_uc002mki.1_Missense_Mutation_p.G207R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G352R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	720	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						AGACTCTCACCGGCCCCAGGT	0.637		NaN											0	0	0	0.011902	0	40	38				
ADAMTS10	81794	broad.mit.edu	37	19	8654344	8654344	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654344C>T	uc002mkj.1	-	17	2300	c.2026G>A	c.(2026-2028)GAA>AAA	p.E676K	ADAMTS10_uc002mki.1_Missense_Mutation_p.E163K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E308K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACCTTGCATTCGCCACTGACG	0.657		NaN											0	0	0	0.01441	0	95	84				
MUC16	94025	broad.mit.edu	37	19	9060229	9060229	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9060229C>T	uc002mkp.2	-	3	27421	c.27217G>A	c.(27217-27219)GAA>AAA	p.E9073K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9075	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGTAGATTCTGTCTTGATG	0.488		NaN											0	0	0	0.01441	0	98	74				
ZNF846	162993	broad.mit.edu	37	19	9868197	9868197	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9868197G>C	uc002mmb.1	-	6	2087	c.1556C>G	c.(1555-1557)TCA>TGA	p.S519*	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.S390*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	519	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCAAGTGCTGAAGATTGAGT	0.368		NaN											0	0	0	0.010771	0	43	122				
PDE4A	5141	broad.mit.edu	37	19	10561309	10561309	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:10561309C>T	uc002moj.2	+	5	759	c.651C>T	c.(649-651)GTC>GTT	p.V217V	PDE4A_uc002mok.2_Silent_p.V191V|PDE4A_uc002mol.2_Silent_p.V156V|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	217					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCACCCCTGTCTGCAAGGCCA	0.672		NaN											0	0	0	0.013537	0	10	18				
SMARCA4	6597	broad.mit.edu	37	19	11151989	11151989	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:11151989G>A	uc002mqf.3	+	30	4461	c.4177G>A	c.(4177-4179)GAG>AAG	p.E1393K	SMARCA4_uc010dxp.2_Missense_Mutation_p.E1393K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1425K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1360K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1360K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1363K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1363K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E483K	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1393					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGCCATCGAGGAGGGCAC	0.627		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.01441	0	48	48		Valid		
ZNF799	90576	broad.mit.edu	37	19	12501795	12501795	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:12501795C>G	uc010dyt.2	-	4	1567	c.1417G>C	c.(1417-1419)GAG>CAG	p.E473Q	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TATGGCTTCTCTCCAGCATGA	0.383		NaN											0	0	0	0.01441	0	49	95				
AP1M1	8907	broad.mit.edu	37	19	16337279	16337279	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:16337279C>T	uc002ndu.2	+	6	767	c.594C>T	c.(592-594)ATC>ATT	p.I198I	AP1M1_uc002ndv.2_Silent_p.I210I|AP1M1_uc010xpd.1_Silent_p.I198I	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	198	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(3)|breast(1)	4						TGGGCTCCATCAAGATGCGAG	0.652		NaN											0	0	0	0.004482	0	9	4				
ZNF254	9534	broad.mit.edu	37	19	24309978	24309978	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:24309978T>C	uc002nru.2	+	4	1310	c.1176T>C	c.(1174-1176)ACT>ACC	p.T392T	ZNF254_uc010xrk.1_Silent_p.T307T	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	392	C2H2-type 7.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AACTCTCAACTCTTACTACAC	0.353		NaN											0	0	0	0.001855	0	5	49				
ZNF536	9745	broad.mit.edu	37	19	31039401	31039401	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:31039401C>G	uc002nsu.1	+	4	3013	c.2875C>G	c.(2875-2877)CCC>GCC	p.P959A	ZNF536_uc010edd.1_Missense_Mutation_p.P959A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	959					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGAGGAGAAACCCAGTGGCAA	0.577		NaN											0	0	0	0.004482	0	9	185				
ARHGAP33	115703	broad.mit.edu	37	19	36279303	36279303	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:36279303C>T	uc002obs.1	+	21	3438	c.3353C>T	c.(3352-3354)TCT>TTT	p.S1118F	ARHGAP33_uc002obt.1_Missense_Mutation_p.S1115F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S867F	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1279					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TCCCTCCACTCTGAGGGCCAG	0.632		NaN											0	0	0	0.001168	0	6	7				
RYR1	6261	broad.mit.edu	37	19	38973699	38973699	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:38973699C>T	uc002oit.2	+	32	4783	c.4653C>T	c.(4651-4653)GTC>GTT	p.V1551V	RYR1_uc002oiu.2_Silent_p.V1551V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1551	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCTGCCGTCTTCGTCCTGC	0.587		NaN											0	0	0	0.01441	0	81	76				
SAMD4B	55095	broad.mit.edu	37	19	39866385	39866385	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39866385G>C	uc002olb.2	+	7	1798	c.763G>C	c.(763-765)GAG>CAG	p.E255Q	SAMD4B_uc002ola.2_Missense_Mutation_p.E255Q	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	255							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAGTCCAGAGGAGCTTGGGGC	0.652		NaN											0	0	0	0.01441	0	166	173				
SAMD4B	55095	broad.mit.edu	37	19	39868175	39868175	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39868175G>C	uc002olb.2	+	10	2190	c.1155G>C	c.(1153-1155)CAG>CAC	p.Q385H	SAMD4B_uc002ola.2_Missense_Mutation_p.Q385H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	385							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTGCAGCAGATCATCATCA	0.627		NaN											0	0	0	0.01441	0	49	72				
TMEM145	284339	broad.mit.edu	37	19	42827851	42827851	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:42827851C>T	uc002otk.1	+	14	1363	c.1311C>T	c.(1309-1311)TTC>TTT	p.F437F	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	437						integral to membrane					0		Prostate(69;0.00682)				ACAAGGCCTTCCCGCAGCACG	0.642		NaN											0	0	0	0.01441	0	56	75				
CEACAM8	1088	broad.mit.edu	37	19	43097978	43097978	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:43097978C>T	uc002oud.2	-	2	241	c.139G>A	c.(139-141)GAG>AAG	p.E47K	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	47	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				TCCTTCCCCTCTGCAGCATTG	0.537		NaN											0	0	0	0.01441	0	115	126				
PRKD2	25865	broad.mit.edu	37	19	47219391	47219391	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:47219391C>T	uc002pfh.2	-	2	579	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.Q79Q|PRKD2_uc002pfj.2_Silent_p.Q79Q|PRKD2_uc010xye.1_Silent_p.Q79Q|PRKD2_uc002pfk.2_5'UTR	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	79					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCCTCACCTTCTGGTCCACGA	0.657		NaN											0	0	0	0.01441	0	50	43				
SCAF1	58506	broad.mit.edu	37	19	50155955	50155955	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:50155955G>A	uc002poq.2	+	7	2433	c.2309G>A	c.(2308-2310)CGG>CAG	p.R770Q		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	770	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGTCTCGTCGGAAGGCGCTG	0.577		NaN											0	0	0	0.009096	0	4	5				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:53116885A>G	uc002pzu.3	-	2	2177	c.933T>C	c.(931-933)CAT>CAC	p.H311H	ZNF83_uc002pzv.3_Silent_p.H311H|ZNF83_uc010eps.2_Silent_p.H283H|ZNF83_uc010ept.2_Silent_p.H311H|ZNF83_uc010epu.2_Silent_p.H311H|ZNF83_uc010epv.2_Silent_p.H311H|ZNF83_uc010epw.2_Silent_p.H311H|ZNF83_uc010epx.2_Silent_p.H283H|ZNF83_uc010epy.2_Silent_p.H311H|ZNF83_uc010epz.2_Silent_p.H283H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	311	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418		NaN											0	0	0	0.004672	0	3	129				
LAIR1	3903	broad.mit.edu	37	19	54872615	54872615	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:54872615A>G	uc002qfk.1	-	3	582	c.272T>C	c.(271-273)GTA>GCA	p.V91A	LAIR1_uc002qfl.1_Missense_Mutation_p.V91A|LAIR1_uc002qfm.1_Missense_Mutation_p.V90A|LAIR1_uc002qfn.1_Missense_Mutation_p.V90A|LAIR1_uc010yex.1_Missense_Mutation_p.V84A|LAIR1_uc002qfo.2_Missense_Mutation_p.V73A	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	91	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCTTCACTTACTGAGTCAAT	0.498		NaN											0	0	0	0.008291	0	9	276				
EPS8L1	54869	broad.mit.edu	37	19	55594761	55594761	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55594761G>A	uc002qis.3	+	13	1334	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	EPS8L1_uc010ess.1_Silent_p.P392P|EPS8L1_uc010est.1_Silent_p.P410P|EPS8L1_uc010yfr.1_Silent_p.P346P|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.P283P|EPS8L1_uc002qiv.2_Silent_p.P56P|EPS8L1_uc002qiw.2_Silent_p.P157P	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	410						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCTGTCCCCGGAGGAGGGAC	0.627		NaN											0	0	0	0.00623	0	35	32				
TMEM150B	284417	broad.mit.edu	37	19	55824272	55824272	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55824272G>A	uc010esw.1	-	8	830	c.657C>T	c.(655-657)CTC>CTT	p.L219L	TMEM150B_uc010yfu.1_Silent_p.L219L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	219	Cytoplasmic (Potential).					integral to membrane					0						GCGGGGGGCTGAGGCTGGGCC	0.672		NaN											0	0	0	0.004482	0	7	13				
ZNF784	147808	broad.mit.edu	37	19	56133794	56133794	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:56133794C>G	uc002qll.1	-	2	309	c.295G>C	c.(295-297)GAC>CAC	p.D99H	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCTCGGGTCCCCACCCTGC	0.726		NaN											0	0	0	0.009096	0	4	19				
ZNF548	147694	broad.mit.edu	37	19	57908503	57908503	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:57908503G>A	uc002qom.2	+	2	353	c.103G>A	c.(103-105)GAT>AAT	p.D35N	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.D38N	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTACCGTGATGTGATGCT	0.532		NaN											0	0	0	0.01441	0	169	425				
TPO	7173	broad.mit.edu	37	2	1459852	1459852	+	Missense_Mutation	SNP	G	G	T	rs144088710		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:1459852G>T	uc002qww.2	+	7	708	c.617G>T	c.(616-618)CGG>CTG	p.R206L	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R206L|TPO_uc002qwr.2_Missense_Mutation_p.R206L|TPO_uc002qwx.2_Missense_Mutation_p.R206L|TPO_uc010yio.1_Missense_Mutation_p.R206L|TPO_uc010yip.1_Missense_Mutation_p.R206L	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	206	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGTCCGGGAGGTGACA	0.502		NaN											1	0	0.000602214	0.000602	0.000627841	4	19				
BIRC6	57448	broad.mit.edu	37	2	32626615	32626615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:32626615G>A	uc010ezu.2	+	8	1476	c.1342G>A	c.(1342-1344)GAT>AAT	p.D448N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	448					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTCAGGAGTTGATTCAAGGAG	0.398		NaN											0	0	0	0.00623	0	42	51				
CYP1B1	1545	broad.mit.edu	37	2	38301609	38301609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:38301609G>A	uc002rqo.2	-	3	1326	c.923C>T	c.(922-924)TCG>TTG	p.S308L		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	308					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	ACCACCGTGCGAGTCCCCGGC	0.542		NaN											0	0	0	0.010504	0	20	27				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906488	48906488	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:48906488G>A	uc010yol.1	+	8	3362	c.3315G>A	c.(3313-3315)AAG>AAA	p.K1105K	STON1-GTF2A1L_uc002rwp.1_Silent_p.K1152K|GTF2A1L_uc002rws.1_Silent_p.K448K|GTF2A1L_uc010yom.1_Silent_p.K414K|GTF2A1L_uc002rwt.2_Intron	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	1105					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCGAAGCAAGAACAAATGGA	0.353		NaN											0	0	0	0.005443	0	29	35				
NRXN1	9378	broad.mit.edu	37	2	50318575	50318575	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:50318575C>G	uc010fbp.2	-	3	1306	c.499G>C	c.(499-501)GAA>CAA	p.E167Q	NRXN1_uc002rxb.3_Missense_Mutation_p.E874Q|NRXN1_uc010fbq.2_Missense_Mutation_p.E1242Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E1202Q	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	167	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCATTGGATTCTTCAATGGCG	0.438		NaN											0	0	0	0.004656	0	27	126				
MTIF2	4528	broad.mit.edu	37	2	55464514	55464514	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:55464514C>A	uc002ryn.2	-	16	2658	c.1921G>T	c.(1921-1923)GTT>TTT	p.V641F	MTIF2_uc010yox.1_Missense_Mutation_p.V310F|MTIF2_uc002ryo.2_Missense_Mutation_p.V641F	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	641					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						GCCACAGGAACTTTTTTCTTC	0.373		NaN											1	0	1.08611e-07	0.010729	1.13838e-07	11	49				
IMMT	10989	broad.mit.edu	37	2	86389141	86389141	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:86389141C>T	uc002sqz.3	-	8	1242	c.854G>A	c.(853-855)AGA>AAA	p.R285K	IMMT_uc002sqy.3_Missense_Mutation_p.R26K|IMMT_uc002srb.3_Missense_Mutation_p.R274K|IMMT_uc002sra.3_Missense_Mutation_p.R284K|IMMT_uc010ytd.1_Missense_Mutation_p.R273K|IMMT_uc010yte.1_Missense_Mutation_p.R238K|IMMT_uc002src.1_Missense_Mutation_p.R26K|IMMT_uc002srd.2_Missense_Mutation_p.R285K|IMMT_uc002sre.3_Missense_Mutation_p.R273K|IMMT_uc010ytf.1_Missense_Mutation_p.R207K|IMMT_uc010fgs.1_Missense_Mutation_p.R282K	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	285	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TACTGCCTTTCTGCGTTCCTT	0.428		NaN											0	0	0	0.003163	0	12	9				
GCC2	9648	broad.mit.edu	37	2	109086467	109086467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:109086467C>T	uc002tec.2	+	6	836	c.682C>T	c.(682-684)CAG>TAG	p.Q228*	GCC2_uc002ted.2_Nonsense_Mutation_p.Q127*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	228	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						GGCTAATTCTCAGCATTACCA	0.358		NaN											0	0	0	0.011902	0	48	62				
POLR1B	84172	broad.mit.edu	37	2	113315529	113315529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:113315529G>C	uc002thw.2	+	8	1781	c.1201G>C	c.(1201-1203)GAT>CAT	p.D401H	POLR1B_uc010fkn.2_Missense_Mutation_p.D345H|POLR1B_uc002thx.2_Missense_Mutation_p.D262H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.D439H|POLR1B_uc002thy.2_Missense_Mutation_p.D262H|POLR1B_uc010yxo.1_Missense_Mutation_p.D178H	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	401					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						AATAGCTTTTGATAAGAAGGC	0.284		NaN											0	0	0	0.000602	0	5	12				
LRP1B	53353	broad.mit.edu	37	2	140995786	140995786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:140995786C>T	uc002tvj.1	-	89	14467	c.13495G>A	c.(13495-13497)GAG>AAG	p.E4499K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4499	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCTACCTCATACATGTTA	0.338		NaN								TSP Lung(27;0.18)			0	0	0	0.008291	0	11	54				
OLA1	29789	broad.mit.edu	37	2	175006600	175006600	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175006600C>G	uc002uih.2	-	5	688	c.502G>C	c.(502-504)GAA>CAA	p.E168Q	OLA1_uc002uii.2_Missense_Mutation_p.E10Q|OLA1_uc010fqq.2_Missense_Mutation_p.E168Q|OLA1_uc002uij.2_Missense_Mutation_p.E10Q|OLA1_uc002uik.2_Missense_Mutation_p.E138Q|OLA1_uc010fqr.2_Missense_Mutation_p.E168Q	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	168			E -> Q (in a breast cancer sample; somatic mutation).		ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	p.E168Q(1)		ovary(1)|breast(1)	2						GCCACCTTTTCTAGTTTATCT	0.328		NaN											0	0	0	0.010504	0	18	48				
CIR1	9541	broad.mit.edu	37	2	175213677	175213677	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175213677C>T	uc002uim.2	-	10	994	c.901G>A	c.(901-903)GGG>AGG	p.G301R	CIR1_uc002uin.2_Missense_Mutation_p.G175R|CIR1_uc002uio.2_Missense_Mutation_p.G128R|CIR1_uc002uip.2_Missense_Mutation_p.G190R	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	301	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						TTGTTATGCCCTGAACACttg	0.313		NaN											0	0	0	0.010818	0	33	66				
TTN	7273	broad.mit.edu	37	2	179424596	179424596	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:179424596C>T	uc010zfg.1	-	275	78783	c.78559G>A	c.(78559-78561)GAT>AAT	p.D26187N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19882N|TTN_uc010zfi.1_Missense_Mutation_p.D19815N|TTN_uc010zfj.1_Missense_Mutation_p.D19690N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27114							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAATATCAAATAAAGGT	0.433		NaN											0	0	0	0.012213	0	32	63				
CERKL	375298	broad.mit.edu	37	2	182438553	182438553	+	Missense_Mutation	SNP	T	T	A	rs149505471		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:182438553T>A	uc002unx.2	-	3	641	c.540A>T	c.(538-540)AAA>AAT	p.K180N	CERKL_uc002uny.2_Missense_Mutation_p.K180N|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_Translation_Start_Site|CERKL_uc002uoa.2_Missense_Mutation_p.K180N|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Translation_Start_Site|CERKL_uc002uoe.2_Missense_Mutation_p.K180N	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	180	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGTAGCTTCTTTTTTGTGAC	0.333		NaN											0	0	0	0.012319	0	19	34				
STAT4	6775	broad.mit.edu	37	2	191897696	191897696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:191897696G>C	uc002usm.1	-	21	2286	c.2032C>G	c.(2032-2034)CAG>GAG	p.Q678E	STAT4_uc002usn.1_Missense_Mutation_p.Q678E|STAT4_uc010zgk.1_Missense_Mutation_p.Q523E|STAT4_uc002uso.2_Missense_Mutation_p.Q678E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	678					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCGCAAGGCTGAGAGCTGTAG	0.368		NaN											0	0	0	0.010729	0	11	37				
FZD7	8324	broad.mit.edu	37	2	202900750	202900750	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:202900750G>C	uc002uyw.1	+	1	1441	c.1380G>C	c.(1378-1380)AAG>AAC	p.K460N		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	460	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						ACGGCACCAAGACCGAGAAGC	0.592		NaN									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	16	35				
SPHKAP	80309	broad.mit.edu	37	2	228882308	228882308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:228882308C>G	uc002vpq.2	-	7	3309	c.3262G>C	c.(3262-3264)GAG>CAG	p.E1088Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1088Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1088Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1088						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTCTTCCTCAGGAATGCTT	0.632		NaN											0	0	0	0.013537	0	10	34				
FAM110A	83541	broad.mit.edu	37	20	825768	825768	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:825768C>T	uc002wef.1	+	2	657	c.321C>T	c.(319-321)CTC>CTT	p.L107L	FAM110A_uc002weg.1_Silent_p.L107L|FAM110A_uc002weh.1_Silent_p.L107L|FAM110A_uc010fzz.2_RNA	NM_001042353	NP_001035812	Q9BQ89	F110A_HUMAN	hypothetical protein LOC83541	107						microtubule organizing center|spindle pole	protein binding				0						TGGACATCCTCAGCAGCCTCA	0.721		NaN											0	0	0	0.010729	0	9	9				
SIRPB2	284759	broad.mit.edu	37	20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:1456880C>T	uc002wfg.2	-	5	1189	c.961G>A	c.(961-963)GAA>AAA	p.E321K	SIRPB2_uc002wfh.3_Missense_Mutation_p.E223K	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	321	Cytoplasmic (Potential).					integral to membrane					0						TTGACATCTTCTTGCCCAGGG	0.597		NaN											0	0	0	0.01441	0	65	139				
NOP56	10528	broad.mit.edu	37	20	2635071	2635071	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635071G>C	uc002wgh.2	+	4	273	c.220G>C	c.(220-222)GAG>CAG	p.E74Q	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	74					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						GGTTGTTCATGAGGACCTCCG	0.542		NaN											0	0	0	0.010818	0	31	53				
NOP56	10528	broad.mit.edu	37	20	2635517	2635517	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635517G>C	uc002wgh.2	+	5	546	c.493G>C	c.(493-495)GAC>CAC	p.D165H	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	165					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						GAACCGGGTGGACAATATGAT	0.502		NaN											0	0	0	0.01441	0	132	120				
TMX4	56255	broad.mit.edu	37	20	7963265	7963265	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:7963265T>A	uc002wmx.1	-	8	816	c.683A>T	c.(682-684)CAG>CTG	p.Q228L		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	228	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						TCTCCGATTCTGCTCTATGGA	0.308		NaN											0	0	0	0.00632	0	27	57				
FLRT3	23767	broad.mit.edu	37	20	14307164	14307164	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:14307164C>T	uc002wov.1	-	3	1456	c.989G>A	c.(988-990)CGT>CAT	p.R330H	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R330H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	330	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATGAGCCCACGCACGTTGAC	0.473		NaN											0	0	0	0.007835	0	40	124				
CST9L	128821	broad.mit.edu	37	20	23549013	23549013	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:23549013C>T	uc002wtk.3	-	1	374	c.75G>A	c.(73-75)CTG>CTA	p.L25L		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	25						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGCATAGATCAGCAGGATCT	0.567		NaN											0	0	0	0.012213	0	33	21				
SNTA1	6640	broad.mit.edu	37	20	32000163	32000163	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:32000163G>C	uc002wzd.1	-	5	1251	c.979C>G	c.(979-981)CTC>GTC	p.L327V	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	327	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GTCTCGGGGAGAGACAAGTAG	0.632		NaN											0	0	0	0.004007	0	13	35				
ITCH	83737	broad.mit.edu	37	20	33026353	33026353	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:33026353C>G	uc010geu.1	+	9	911	c.719C>G	c.(718-720)TCT>TGT	p.S240C	ITCH_uc002xak.2_Missense_Mutation_p.S199C|ITCH_uc010zuj.1_Missense_Mutation_p.S89C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	240					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						GGGAATAATTCTCCATCACTC	0.483		NaN											0	0	0	0.01441	0	72	56				
RPRD1B	58490	broad.mit.edu	37	20	36662412	36662412	+	Silent	SNP	G	G	A	rs17853182		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:36662412G>A	uc002xho.3	+	1	465	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	21	CID.			Q -> H (in Ref. 5; AAH33629).						pancreas(1)	1						ACTCTCAGCAGAGCGTGCAGA	0.642		NaN											0	0	0	0.01441	0	58	91				
ELMO2	63916	broad.mit.edu	37	20	45002118	45002118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:45002118C>G	uc002xrt.1	-	16	1546	c.1336G>C	c.(1336-1338)GAA>CAA	p.E446Q	ELMO2_uc010zxq.1_Missense_Mutation_p.E178Q|ELMO2_uc002xrs.1_Missense_Mutation_p.E193Q|ELMO2_uc002xru.1_Missense_Mutation_p.E446Q|ELMO2_uc010zxr.1_Missense_Mutation_p.E458Q|ELMO2_uc010zxs.1_Missense_Mutation_p.E263Q|ELMO2_uc002xrv.1_Missense_Mutation_p.E165Q|ELMO2_uc002xrw.2_Missense_Mutation_p.E263Q	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	446	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AAGAGCTCTTCAAAGGCTCGG	0.502		NaN											0	0	0	0.004289	0	39	51				
SULF2	55959	broad.mit.edu	37	20	46313304	46313304	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:46313304C>T	uc002xto.2	-	6	1089	c.759G>A	c.(757-759)GCG>GCA	p.A253A	SULF2_uc002xtr.2_Silent_p.A253A|SULF2_uc002xtq.2_Silent_p.A253A	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	253					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CCGGGTTGGGCGCGTAGTTGT	0.632		NaN											0	0	0	0.00308	0	8	46				
SNAI1	6615	broad.mit.edu	37	20	48604577	48604577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:48604577C>T	uc002xuz.2	+	3	849	c.779C>T	c.(778-780)TCA>TTA	p.S260L		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	260					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCCGGCTGCTCAGGATGTCCC	0.617		NaN											0	0	0	0.005524	0	37	33				
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr21:28296403G>C	uc002ymg.2	-	8	3491	c.2762C>G	c.(2761-2763)GCG>GGG	p.A921G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	921	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTGCTTAAACGCAGAAGGCCT	0.483		NaN											0	0	0	0.004007	0	15	51				
GNB1L	54584	broad.mit.edu	37	22	19794230	19794230	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:19794230C>T	uc002zqe.1	-	5	862	c.468G>A	c.(466-468)CCG>CCA	p.P156P	GNB1L_uc002zqd.1_Silent_p.P12P|GNB1L_uc002zqf.1_Silent_p.P156P	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	156					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CATCTGCCTTCGGCTTCAGGG	0.622		NaN											0	0	0	0.003755	0	29	35				
RTDR1	27156	broad.mit.edu	37	22	23404081	23404081	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:23404081G>A	uc002zwt.2	-	6	854	c.696C>T	c.(694-696)GTC>GTT	p.V232V		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	232							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGATGGGGATGACGTCAAAAT	0.562		NaN											0	0	0	0.007835	0	40	29				
CABIN1	23523	broad.mit.edu	37	22	24472152	24472152	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:24472152C>A	uc002zzi.1	+	19	2794	c.2667C>A	c.(2665-2667)CTC>CTA	p.L889L	CABIN1_uc002zzj.1_Silent_p.L839L|CABIN1_uc002zzl.1_Silent_p.L889L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	889					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CATCCTCCCTCATGCTGCTGA	0.587		NaN											1	0	6.38683e-12	0.008361	6.80336e-12	26	96				
HSCB	150274	broad.mit.edu	37	22	29153094	29153094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:29153094G>C	uc003aea.2	+	6	686	c.645G>C	c.(643-645)TTG>TTC	p.L215F		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	215					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						AGGAAATTTTGACAAAGATGA	0.318		NaN											0	0	0	0.01441	0	44	98				
APOL5	80831	broad.mit.edu	37	22	36122831	36122831	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:36122831G>A	uc003aof.2	+	3	716	c.716G>A	c.(715-717)GGC>GAC	p.G239D		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	239					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						GCTATCCAGGGCATCAAGGAT	0.468		NaN											0	0	0	0.009096	0	4	178				
TTLL8	164714	broad.mit.edu	37	22	50471761	50471761	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:50471761T>G	uc011ark.1	-	10	1153	c.1153A>C	c.(1153-1155)ATC>CTC	p.I385L		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTGTCACAGATGAGCAGCGGC	0.562		NaN											0	0	0	0.004482	0	9	5				
HRH1	3269	broad.mit.edu	37	3	11301783	11301783	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:11301783G>A	uc010hdr.2	+	2	1402	c.1060G>A	c.(1060-1062)GAT>AAT	p.D354N	HRH1_uc010hds.2_Missense_Mutation_p.D354N|HRH1_uc010hdt.2_Missense_Mutation_p.D354N|HRH1_uc003bwb.3_Missense_Mutation_p.D354N	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	354	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATGTTAGGTGATAGCCAATC	0.527		NaN											0	0	0	0.013726	0	35	49				
FGD5	152273	broad.mit.edu	37	3	14922086	14922086	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14922086G>A	uc003bzc.2	+	3	2776	c.2666G>A	c.(2665-2667)GGA>GAA	p.G889E	FGD5_uc011avk.1_Missense_Mutation_p.G889E|FGD5_uc003bzd.2_5'Flank	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	889					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						CAGGTGGAAGGACAGTCCAGA	0.527		NaN											0	0	0	0.003163	0	16	22				
FGD5	152273	broad.mit.edu	37	3	14964612	14964612	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14964612G>A	uc003bzc.2	+	16	3977	c.3867G>A	c.(3865-3867)ATG>ATA	p.M1289I	FGD5_uc011avk.1_Missense_Mutation_p.M1289I|FGD5_uc003bzd.2_Missense_Mutation_p.M367I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1289	FYVE-type.			M -> T (in Ref. 5; CAE45896).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						AGGACAGGATGGCCAAGGTCT	0.607		NaN											0	0	0	0.009535	0	31	50				
SACM1L	22908	broad.mit.edu	37	3	45773624	45773624	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:45773624G>C	uc003cos.2	+	13	1285	c.1081G>C	c.(1081-1083)GAA>CAA	p.E361Q	SACM1L_uc011bag.1_Missense_Mutation_p.E258Q|SACM1L_uc011bah.1_Missense_Mutation_p.E295Q|SACM1L_uc003cot.2_5'Flank	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	361	SAC.					Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCAGGTAGCAGAAATGCAAGA	0.333		NaN											0	0	0	0.00632	0	29	63				
TCTA	6988	broad.mit.edu	37	3	49452277	49452277	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49452277C>G	uc003cwv.3	+	3	515	c.294C>G	c.(292-294)CTC>CTG	p.L98L	RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	98	Extracellular (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGAACCTCTCAAAACCCACA	0.522		NaN											0	0	0	0.001984	0	5	23				
MST1	4485	broad.mit.edu	37	3	49722087	49722087	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49722087G>T	uc003cxg.2	-	16	1844	c.1772C>A	c.(1771-1773)TCT>TAT	p.S591Y		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	577	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCACAGATCTTTAGCA	0.602		NaN											1	0	2.32078e-09	0.003163	2.44556e-09	15	53				
CACNA2D2	9254	broad.mit.edu	37	3	50403560	50403560	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:50403560A>G	uc003daq.2	-	33	2803	c.2765T>C	c.(2764-2766)CTG>CCG	p.L922P	CACNA2D2_uc003dap.2_Missense_Mutation_p.L915P|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	922	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCCAGCATCAGGTTGGCATC	0.567		NaN											0	0	0	0.004672	0	3	92				
STAB1	23166	broad.mit.edu	37	3	52547747	52547747	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52547747G>C	uc003dej.2	+	31	3359	c.3285G>C	c.(3283-3285)CAG>CAC	p.Q1095H		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1095	FAS1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGGTGCAGAATGCCAGCG	0.597		NaN											0	0	0	0.001168	0	6	17				
NT5DC2	64943	broad.mit.edu	37	3	52558714	52558714	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52558714G>A	uc003deo.2	-	14	1759	c.1335C>T	c.(1333-1335)TTC>TTT	p.F445F	NT5DC2_uc003dem.2_Silent_p.F315F|NT5DC2_uc003den.2_Silent_p.F482F|NT5DC2_uc010hmi.2_Silent_p.F457F|NT5DC2_uc010hmj.2_Silent_p.F261F	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	445							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGATGCTGCCGAACTGCGCAT	0.627		NaN											0	0	0	0.003163	0	15	38				
CGGBP1	8545	broad.mit.edu	37	3	88104763	88104763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:88104763C>T	uc003dqs.2	-	4	876	c.364G>A	c.(364-366)GAT>AAT	p.D122N	CGGBP1_uc003dqt.2_Missense_Mutation_p.D122N|CGGBP1_uc003dqu.2_Missense_Mutation_p.D122N	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCTGGGTGATCAGCCTTCTCA	0.488		NaN											0	0	0	0.010504	0	22	54				
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:108271090C>G	uc003dxb.3	-	20	2807	c.2538G>C	c.(2536-2538)TTG>TTC	p.L846F		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	846	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						CCTTAATGCTCAACTCTTTTC	0.313		NaN											0	0	0	0.013537	0	12	26				
BOC	91653	broad.mit.edu	37	3	112998700	112998700	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:112998700C>G	uc003dzx.2	+	13	2671	c.2050C>G	c.(2050-2052)CTG>GTG	p.L684V	BOC_uc003dzy.2_Missense_Mutation_p.L684V|BOC_uc003dzz.2_Missense_Mutation_p.L685V|BOC_uc003eab.2_Missense_Mutation_p.L385V|BOC_uc003eac.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	684	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			AGTCCGGGCTCTGAACATGCT	0.612		NaN											0	0	0	0.01441	0	55	118				
PLXND1	23129	broad.mit.edu	37	3	129289674	129289674	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:129289674C>T	uc003emx.2	-	19	3805	c.3705G>A	c.(3703-3705)TCG>TCA	p.S1235S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1235	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						ACTCGTTGACCGAGCAGTGGA	0.622		NaN											0	0	0	0.01441	0	115	159				
CEP70	80321	broad.mit.edu	37	3	138219388	138219388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:138219388G>A	uc003esl.2	-	15	1588	c.1390C>T	c.(1390-1392)CAA>TAA	p.Q464*	CEP70_uc011bmk.1_Nonsense_Mutation_p.Q444*|CEP70_uc011bml.1_Nonsense_Mutation_p.Q446*|CEP70_uc011bmm.1_Nonsense_Mutation_p.Q312*|CEP70_uc003esm.2_Nonsense_Mutation_p.Q464*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	464					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						TGCAAAGTTTGAAAGTGTGGC	0.323		NaN											0	0	0	0.01441	0	116	255				
RBP1	5947	broad.mit.edu	37	3	139258320	139258320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:139258320C>T	uc003eti.2	-	1	352	c.241G>A	c.(241-243)GAG>AAG	p.E81K	RBP1_uc011bmx.1_Missense_Mutation_p.E81K|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.E81K	NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	19						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	CGCAGGTACTCCTCGAAATTC	0.677		NaN											0	0	0	0.013537	0	11	8				
TNIK	23043	broad.mit.edu	37	3	170945999	170945999	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:170945999G>C	uc003fhh.2	-	3	480	c.135C>G	c.(133-135)GTC>GTG	p.V45V	TNIK_uc003fhi.2_Silent_p.V45V|TNIK_uc003fhj.2_Silent_p.V45V|TNIK_uc003fhk.2_Silent_p.V45V|TNIK_uc003fhl.2_Silent_p.V45V|TNIK_uc003fhm.2_Silent_p.V45V|TNIK_uc003fhn.2_Silent_p.V45V|TNIK_uc003fho.2_Silent_p.V45V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	45	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGCCCGTTTTGACATGACGAC	0.338		NaN											0	0	0	0.01441	0	81	42				
MCF2L2	23101	broad.mit.edu	37	3	183014889	183014889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183014889G>C	uc003fli.1	-	12	1462	c.1372C>G	c.(1372-1374)CGA>GGA	p.R458G	MCF2L2_uc003flj.1_Missense_Mutation_p.R458G|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	458					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCCCTTCTCGAGACTGGCAC	0.517		NaN											0	0	0	0.006214	0	8	90				
EIF2B5	8893	broad.mit.edu	37	3	183858320	183858320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183858320C>T	uc003fmp.2	+	7	1322	c.958C>T	c.(958-960)CCT>TCT	p.P320S	EIF2B5_uc003fmq.2_Missense_Mutation_p.P41S|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	320					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGGTCTACCCTCTCACCCC	0.577		NaN											0	0	0	0.01441	0	93	129				
LSG1	55341	broad.mit.edu	37	3	194392818	194392818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:194392818C>T	uc003fui.2	-	1	389	c.74G>A	c.(73-75)CGA>CAA	p.R25Q		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	25					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACGATGGCTTCGGCTCCGCTG	0.567		NaN											0	0	0	0.007291	0	27	47				
PACRGL	133015	broad.mit.edu	37	4	20715142	20715142	+	Silent	SNP	C	C	T	rs139070230	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:20715142C>T	uc010iek.2	+	7	980	c.589C>T	c.(589-591)CTG>TTG	p.L197L	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.L245L|PACRGL_uc003gpz.2_Silent_p.L197L|PACRGL_uc011bxm.1_Silent_p.L144L|PACRGL_uc003gqa.2_Silent_p.L99L|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.L197L|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Silent_p.L99L|PACRGL_uc003gpy.2_Silent_p.L144L	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	197							binding				0						AAACGACCATCTGAAGCATCT	0.388		NaN											0	0	0	0.008871	0	21	39				
SEPSECS	51091	broad.mit.edu	37	4	25160685	25160685	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:25160685G>C	uc003grg.2	-	2	372	c.159C>G	c.(157-159)CTC>CTG	p.L53L	uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Silent_p.L52L|SEPSECS_uc003grh.2_Intron	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	53					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	CATGTAAAAAGAGTTCAAGTG	0.383		NaN											0	0	0	0.007291	0	27	64				
FRAS1	80144	broad.mit.edu	37	4	79360104	79360104	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:79360104C>G	uc003hlb.2	+	40	5855	c.5415C>G	c.(5413-5415)TTC>TTG	p.F1805L	FRAS1_uc003hkw.2_Missense_Mutation_p.F1805L|FRAS1_uc010ijj.1_Missense_Mutation_p.F225L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1804	CSPG 6.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTGATAGCTTCTATTTCTCTG	0.388		NaN											0	0	0	0.00278	0	23	91				
PPP3CA	5530	broad.mit.edu	37	4	101984485	101984485	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:101984485T>C	uc011cen.1	-	9	1660	c.985A>G	c.(985-987)ATG>GTG	p.M329V	PPP3CA_uc003hvu.2_Missense_Mutation_p.M329V|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.M316V|PPP3CA_uc003hvs.2_Missense_Mutation_p.M262V|PPP3CA_uc010ilk.2_Missense_Mutation_p.M97V	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	329					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGATATTCATAACATTGTTC	0.363		NaN											0	0	0	0.006214	0	10	10				
FAT4	79633	broad.mit.edu	37	4	126241535	126241535	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:126241535T>A	uc003ifj.3	+	1	3969	c.3969T>A	c.(3967-3969)GAT>GAA	p.D1323E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1323	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCTTTGTTGATGTTTTGGAAA	0.368		NaN											0	0	0	0.007413	0	19	41				
PCDH10	57575	broad.mit.edu	37	4	134072451	134072451	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:134072451G>C	uc003iha.2	+	1	1982	c.1156G>C	c.(1156-1158)GAC>CAC	p.D386H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D386H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	386	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTGACCGCGACTCAGAGGA	0.587		NaN											0	0	0	0.00632	0	29	70				
MAML3	55534	broad.mit.edu	37	4	140651796	140651796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:140651796C>T	uc003ihz.1	-	4	2845	c.2093G>A	c.(2092-2094)CGA>CAA	p.R698Q	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R165Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	698	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GCCTGTGGTTCGGGGAAGTCC	0.632		NaN											0	0	0	0.000602	0	4	12				
RAPGEF2	9693	broad.mit.edu	37	4	160244690	160244690	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:160244690G>A	uc003iqg.3	+	5	897	c.587G>A	c.(586-588)GGA>GAA	p.G196E		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	196	cNMP.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGTGCATGGGAAATAGTTTT	0.378		NaN											0	0	0	0.013537	0	12	30				
CCT5	22948	broad.mit.edu	37	5	10254942	10254942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:10254942G>A	uc003jeq.2	+	3	494	c.323G>A	c.(322-324)GGA>GAA	p.G108E	CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.G108E|CCT5_uc010its.2_Missense_Mutation_p.G108E|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.G70E|CCT5_uc011cmt.1_Intron	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	108					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						GGAACCACAGGAGTGGTTGGT	0.418		NaN											0	0	0	0.010818	0	31	29				
TRIO	7204	broad.mit.edu	37	5	14497101	14497101	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:14497101G>A	uc003jff.2	+	50	8000	c.7994G>A	c.(7993-7995)GGA>GAA	p.G2665E	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2665					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCACGGGAAGGACTCAGCAAC	0.493		NaN											0	0	0	0.008291	0	11	45				
CDH6	1004	broad.mit.edu	37	5	31317518	31317518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:31317518C>G	uc003jhe.1	+	10	1875	c.1549C>G	c.(1549-1551)CCT>GCT	p.P517A	CDH6_uc003jhd.1_Missense_Mutation_p.P517A	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	517	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CAAGGATGACCCTTATAGTGG	0.398		NaN											0	0	0	0.009096	0	4	110				
RPL37	6167	broad.mit.edu	37	5	40834293	40834293	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:40834293G>A	uc003jme.1	-	3	314	c.214C>T	c.(214-216)CGC>TGC	p.R72C	SNORD72_uc003jmf.1_5'Flank	NM_000997	NP_000988	P61927	RL37_HUMAN	ribosomal protein L37	72					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome				0		Breast(839;0.238)				CTGAATCTGCGGTATACAATT	0.398		NaN											0	0	0	0.013537	0	12	71				
HEATR7B2	133558	broad.mit.edu	37	5	41057463	41057463	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:41057463C>G	uc003jmj.3	-	8	1247	c.757_splice	c.e8-1	p.S253_splice	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2								binding			ovary(6)|central_nervous_system(2)	8						GTTTTAGGCTCTAAAGTGGAA	0.433		NaN											0	0	0	0.000602	0	5	1				
MAST4	375449	broad.mit.edu	37	5	66449324	66449324	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:66449324G>A	uc003jut.1	+	25	3065	c.2997G>A	c.(2995-2997)CTG>CTA	p.L999L	MAST4_uc003juw.2_Silent_p.L927L	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1191	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGGACTGAAGGCTGGAG	0.428		NaN											0	0	0	0.001168	0	5	8				
PIK3R1	5295	broad.mit.edu	37	5	67576548	67576548	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:67576548C>G	uc003jva.2	+	6	1387	c.827C>G	c.(826-828)TCA>TGA	p.S276*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.S276*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	276	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCAGATTCTCAGCAGCCAGG	0.383		NaN	Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			0	0	0	0.008291	0	11	31		Valid		
GPR98	84059	broad.mit.edu	37	5	90074805	90074805	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:90074805G>C	uc003kju.2	+	64	13069	c.12973G>C	c.(12973-12975)GAA>CAA	p.E4325Q	GPR98_uc003kjt.2_Missense_Mutation_p.E2031Q|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4325	Extracellular (Potential).|Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCCTCTTTGAAGCAGGGGA	0.488		NaN											0	0	0	0.005443	0	28	61				
VDAC1	7416	broad.mit.edu	37	5	133326753	133326753	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:133326753C>T	uc003kyp.1	-	4	309	c.210G>A	c.(208-210)ACG>ACA	p.T70T	VDAC1_uc003kyq.1_Silent_p.T70T|VDAC1_uc003kyr.1_Silent_p.T70T	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TCTCTGTAAACGTCAGGCCGT	0.458		NaN											0	0	0	0.010729	0	12	80				
CXCL14	9547	broad.mit.edu	37	5	134910273	134910273	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:134910273G>A	uc003lay.2	-	3	774	c.309C>T	c.(307-309)AAC>AAT	p.N103N		NM_004887	NP_004878	O95715	CXL14_HUMAN	small inducible cytokine B14 precursor	103					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTTCTCGTTCCAGGCGT	0.493		NaN											0	0	0	0.006214	0	9	20				
PCDHGA2	56113	broad.mit.edu	37	5	140718701	140718701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140718701G>C	uc003ljk.1	+	1	348	c.163G>C	c.(163-165)GAG>CAG	p.E55Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E55Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	55	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGGTTTGGAGCCCCTGGC	0.617		NaN									OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	19	42				
PCDHGA8	9708	broad.mit.edu	37	5	140774463	140774463	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140774463G>A	uc003lkd.1	+	1	2981	c.2083G>A	c.(2083-2085)GTG>ATG	p.V695M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V695M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	695	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTCGTGGTGGCAGTGGC	0.607		NaN											0	0	0	0.006214	0	7	22				
PCDH12	51294	broad.mit.edu	37	5	141336156	141336156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:141336156C>T	uc003llx.2	-	1	2472	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	421	Cadherin 4.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCACTGCTCTCTGTCCAGT	0.498		NaN											0	0	0	0.005524	0	38	78				
TIMD4	91937	broad.mit.edu	37	5	156381553	156381553	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156381553C>T	uc003lwh.2	-	2	330	c.273G>A	c.(271-273)CCG>CCA	p.P91P	TIMD4_uc010jii.2_Silent_p.P91P	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	91	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517		NaN											0	0	0	0.008871	0	20	39				
CYFIP2	26999	broad.mit.edu	37	5	156788517	156788517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156788517G>A	uc003lwq.2	+	28	3088	c.2950G>A	c.(2950-2952)GAG>AAG	p.E984K	CYFIP2_uc011ddn.1_Missense_Mutation_p.E958K|CYFIP2_uc011ddo.1_Missense_Mutation_p.E788K|CYFIP2_uc003lwr.2_Missense_Mutation_p.E984K|CYFIP2_uc003lws.2_Missense_Mutation_p.E984K|CYFIP2_uc003lwt.2_Missense_Mutation_p.E887K|CYFIP2_uc011ddp.1_Missense_Mutation_p.E718K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1009					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGACATCATTGAGTACGCAGA	0.542		NaN											0	0	0	0.013537	0	11	19				
EIF4E1B	253314	broad.mit.edu	37	5	176070159	176070159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:176070159C>T	uc010jkf.1	+	4	676	c.92C>T	c.(91-93)ACA>ATA	p.T31I		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	31					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGACGCCCACAGGAGAAAAG	0.498		NaN											0	0	0	0.008871	0	19	26				
CNOT6	57472	broad.mit.edu	37	5	180000991	180000991	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:180000991A>C	uc003mlx.2	+	12	1814	c.1465A>C	c.(1465-1467)ATA>CTA	p.I489L	CNOT6_uc010jld.2_Missense_Mutation_p.I489L|CNOT6_uc010jle.2_Missense_Mutation_p.I484L	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	489					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTCAGGGTATAATAGACTA	0.418		NaN											0	0	0	0.003163	0	15	33				
GMDS	2762	broad.mit.edu	37	6	1726704	1726704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726704C>G	uc003mtq.2	-	9	1123	c.933G>C	c.(931-933)GAG>GAC	p.E311D		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	311					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTTTGCCGGTCTCTTTACATC	0.493		NaN											0	0	0	0.014323	0	19	95				
GMDS	2762	broad.mit.edu	37	6	1726724	1726724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726724C>T	uc003mtq.2	-	9	1103	c.913G>A	c.(913-915)GAA>AAA	p.E305K		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	305					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTGCCCACTTCATTTTCATTC	0.493		NaN											0	0	0	0.006122	0	18	90				
DSP	1832	broad.mit.edu	37	6	7584100	7584100	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:7584100C>T	uc003mxp.1	+	24	6884	c.6605C>T	c.(6604-6606)TCA>TTA	p.S2202L	DSP_uc003mxq.1_Missense_Mutation_p.S1603L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2202	Plectin 6.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCTTGCTTTCAGTACAGAAG	0.458		NaN											0	0	0	0.006999	0	38	52				
HIST1H3B	8358	broad.mit.edu	37	6	26031997	26031997	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26031997C>T	uc003nfs.1	-	1	292	c.292G>A	c.(292-294)GAG>AAG	p.E98K		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						AAGTAGGCCTCACAAGCCTCC	0.567		NaN											0	0	0	0.008871	0	21	65				
HIST1H1C	3006	broad.mit.edu	37	6	26056393	26056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26056393C>T	uc003nfw.2	-	1	307	c.264G>A	c.(262-264)GTG>GTA	p.V88V		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	88	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						TGCCCTTGCTCACCAGGCTCT	0.532		NaN											0	0	0	0.013726	0	34	129				
BTN1A1	696	broad.mit.edu	37	6	26501534	26501534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26501534C>G	uc003nif.3	+	1	40	c.20C>G	c.(19-21)TCC>TGC	p.S7C		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	7						extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						TTCCCAAGCTCCGGTCTCCCC	0.522		NaN											0	0	0	0.010771	0	40	55				
HSPA1A	3303	broad.mit.edu	37	6	31783561	31783561	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:31783561G>A	uc003nxj.2	+	1	271	c.28G>A	c.(28-30)GAC>AAC	p.D10N	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Missense_Mutation_p.D10N|HSPA1A_uc003nxi.1_Missense_Mutation_p.D10N|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	10					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						GATCGGCATCGACCTGGGCAC	0.647		NaN											0	0	0	0.01441	0	40	34				
HLA-DQA1	3117	broad.mit.edu	37	6	32609935	32609935	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32609935A>G	uc003obr.2	+	3	571	c.518A>G	c.(517-519)AAG>AGG	p.K173R	HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Missense_Mutation_p.K173R|HLA-DQA1_uc003obu.2_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ	172	Ig-like C1-type.|Alpha-2.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						TCCTTCTTCAAGATCAGTTAC	0.512		NaN											0	0	0	0.012319	0	18	67				
HLA-DQA2	3118	broad.mit.edu	37	6	32713754	32713754	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32713754A>G	uc003obx.2	+	3	576	c.518A>G	c.(517-519)AAG>AGG	p.K173R		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	173	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTTCTTCAAGATCAGTTAC	0.517		NaN											0	0	0	0.007291	0	26	182				
ZBTB9	221504	broad.mit.edu	37	6	33423781	33423781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:33423781C>T	uc003oeq.2	+	2	1172	c.904C>T	c.(904-906)CAG>TAG	p.Q302*		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	302	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGCGGAACTCAGCCTGGAGG	0.547		NaN											0	0	0	0.003954	0	26	61				
CCND3	896	broad.mit.edu	37	6	41908144	41908144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:41908144G>C	uc003orn.2	-	2	543	c.378C>G	c.(376-378)ATC>ATG	p.I126M	CCND3_uc003orp.2_Missense_Mutation_p.I45M|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Missense_Mutation_p.I45M|CCND3_uc003orm.2_Missense_Mutation_p.I76M|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron	NM_001760	NP_001751	P30281	CCND3_HUMAN	cyclin D3 isoform 2	126	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding				0	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTCGGTGTAGATGCACAGTT	0.617		NaN	T	IGH@	MM								0	0	0	0.00632	0	27	78		Valid		
BEND6	221336	broad.mit.edu	37	6	56880031	56880031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:56880031G>A	uc010kab.2	+	4	985	c.399G>A	c.(397-399)TGG>TGA	p.W133*	BEND6_uc003pdi.3_Nonsense_Mutation_p.W35*	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	133											0						CCACCCTCTGGAGAGCAACAA	0.478		NaN											0	0	0	0.007291	0	31	49				
OGFRL1	79627	broad.mit.edu	37	6	72011597	72011597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:72011597G>C	uc003pfx.1	+	7	1364	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	401						membrane	receptor activity				0						CAGTAATGCTGAGAACATGAA	0.458		NaN											0	0	0	0.007291	0	28	42				
HACE1	57531	broad.mit.edu	37	6	105198288	105198288	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:105198288G>C	uc003pqu.1	-	20	2548	c.2271C>G	c.(2269-2271)ATC>ATG	p.I757M	HACE1_uc010kcy.1_Missense_Mutation_p.I239M|HACE1_uc010kcz.1_Missense_Mutation_p.I542M|HACE1_uc010kcx.1_Missense_Mutation_p.I166M|HACE1_uc003pqt.1_Missense_Mutation_p.I410M	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	757	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAAGCATTGATCTGAGGCT	0.383		NaN											0	0	0	0.000602	0	4	18				
UTRN	7402	broad.mit.edu	37	6	144860468	144860468	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:144860468C>G	uc003qkt.2	+	44	6500	c.6408C>G	c.(6406-6408)CTC>CTG	p.L2136L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2136					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAAAAACTCAAATGGCTGA	0.348		NaN											0	0	0	0.013537	0	13	32				
KATNA1	11104	broad.mit.edu	37	6	149959681	149959681	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:149959681C>G	uc003qmr.1	-	1	48	c.3G>C	c.(1-3)ATG>ATC	p.M1I	KATNA1_uc003qms.2_Missense_Mutation_p.M1I|KATNA1_uc003qmt.2_Missense_Mutation_p.M1I|KATNA1_uc011eed.1_Missense_Mutation_p.M1I	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	1	Interaction with microtubule.|Interaction with KATNB1.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TAAGAAGACTCATGTTCAACT	0.333		NaN											0	0	0	0.005443	0	27	124				
NUP43	348995	broad.mit.edu	37	6	150048189	150048189	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:150048189C>T	uc003qmz.2	-	8	1116	c.1059G>A	c.(1057-1059)GTG>GTA	p.V353V	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Silent_p.V257V	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	353					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCAAAGTGTTCACAGACAGAG	0.398		NaN											0	0	0	0.00333	0	23	21				
C7orf28B	221960	broad.mit.edu	37	7	6840699	6840699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:6840699C>T	uc003sqx.1	-	14	1306	c.1273G>A	c.(1273-1275)GAA>AAA	p.E425K	C7orf28B_uc011jxd.1_Missense_Mutation_p.E282K	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960	425						lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		TCCTCATCTTCATCCACTCTG	0.438		NaN											0	0	0	0.004878	0	20	82				
RPA3	6119	broad.mit.edu	37	7	7678736	7678736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678736C>T	uc003sri.2	-	6	1311	c.139G>A	c.(139-141)GAA>AAA	p.E47K	RPA3_uc003srh.2_Missense_Mutation_p.E8K	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	47					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTTTTCCTTCTCCATCTGAA	0.299		NaN						Direct_reversal_of_damage|NER					0	0	0	0.004482	0	7	39				
RPA3	6119	broad.mit.edu	37	7	7678739	7678739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678739C>A	uc003sri.2	-	6	1308	c.136G>T	c.(136-138)GGA>TGA	p.G46*	RPA3_uc003srh.2_Nonsense_Mutation_p.G7*	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	46					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTCCTTCTCCATCTGAAAGA	0.299		NaN						Direct_reversal_of_damage|NER					1	0	1.06961e-07	0.00308	1.1241e-07	6	39				
C7orf30	115416	broad.mit.edu	37	7	23347497	23347497	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:23347497T>C	uc003swd.1	+	3	478	c.446T>C	c.(445-447)CTG>CCG	p.L149P	C7orf30_uc003swe.2_5'Flank	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	149						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			TACAAACACCTGAAATGTAAA	0.418		NaN											0	0	0	0.004672	0	3	79				
AVL9	23080	broad.mit.edu	37	7	32598734	32598734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:32598734G>A	uc003tcv.1	+	10	1019	c.873G>A	c.(871-873)ATG>ATA	p.M291I	AVL9_uc011kai.1_Missense_Mutation_p.M291I|AVL9_uc010kwj.1_Missense_Mutation_p.M132I	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	291						integral to membrane					0						ATGCTGCCATGAAGACTGAGG	0.463		NaN											0	0	0	0.010729	0	10	18				
RP9	6100	broad.mit.edu	37	7	33136118	33136118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:33136118C>G	uc003tdm.2	-	5	472	c.454G>C	c.(454-456)GAA>CAA	p.E152Q		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	152	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			ACGTCCTTTTCATGTCGTTTA	0.383		NaN											0	0	0	0.013537	0	11	41				
ABCA13	154664	broad.mit.edu	37	7	48318168	48318168	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:48318168T>C	uc003toq.2	+	18	7402	c.7377T>C	c.(7375-7377)TTT>TTC	p.F2459F	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2459					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TGCTTTTCTTTATAAATAATT	0.343		NaN											0	0	0	0.01441	0	48	79				
POM121L12	285877	broad.mit.edu	37	7	53103750	53103750	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:53103750A>G	uc003tpz.2	+	1	402	c.386A>G	c.(385-387)AAC>AGC	p.N129S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	129											0						CGTGCCTGGAACCCAGGACGG	0.642		NaN											0	0	0	0.00333	0	20	33				
ZNF479	90827	broad.mit.edu	37	7	57188660	57188660	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:57188660G>A	uc010kzo.2	-	5	733	c.462C>T	c.(460-462)AAC>AAT	p.N154N		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATATTTTGTTTTGGGTAG	0.289		NaN											0	0	0	0.003954	0	21	49				
WBSCR28	135886	broad.mit.edu	37	7	73275587	73275587	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:73275587C>G	uc003tzk.2	+	1	99	c.63C>G	c.(61-63)CTC>CTG	p.L21L	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	21						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TTACGAGGCTCTCAGTGCTGG	0.642		NaN											0	0	0	0.010729	0	12	20				
HGF	3082	broad.mit.edu	37	7	81355231	81355231	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:81355231T>C	uc003uhl.2	-	9	1308	c.1143A>G	c.(1141-1143)CCA>CCG	p.P381P	HGF_uc003uhm.2_Silent_p.P376P	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	381	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						TATCACAGTTTGGAATTTGGG	0.448		NaN											0	0	0	0.00245	0	14	79				
CROT	54677	broad.mit.edu	37	7	86988563	86988563	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:86988563G>A	uc003uit.2	+	4	402	c.157G>A	c.(157-159)GAA>AAA	p.E53K	CROT_uc003uis.3_Missense_Mutation_p.E53K|CROT_uc003uiu.2_Missense_Mutation_p.E81K	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	53					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAAACTGAAGAAATAGTTCA	0.308		NaN											0	0	0	0.00308	0	8	41				
AKAP9	10142	broad.mit.edu	37	7	91631551	91631551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:91631551G>A	uc003ulg.2	+	8	2545	c.2320G>A	c.(2320-2322)GAA>AAA	p.E774K	AKAP9_uc003ule.2_Missense_Mutation_p.E786K|AKAP9_uc003ulf.2_Missense_Mutation_p.E774K|AKAP9_uc003uli.2_Missense_Mutation_p.E399K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	786	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCACAACTTGAAGCAGAGAA	0.303		NaN	T	BRAF	papillary thyroid								0	0	0	0.013537	0	12	68				
CYP3A7	1551	broad.mit.edu	37	7	99312307	99312307	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:99312307T>C	uc003uru.2	-	8	776	c.671_splice	c.e8-1	p.K224_splice	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GAAAGACTTCTGTAGAAAAAA	0.303		NaN											0	0	0	0.003954	0	25	54				
GIGYF1	64599	broad.mit.edu	37	7	100285422	100285422	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:100285422C>T	uc003uwg.1	-	3	1259	c.250G>A	c.(250-252)GAG>AAG	p.E84K		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	84										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTTCCTCCTCAGTCAGCGGC	0.687		NaN											0	0	0	0.005443	0	23	62				
RELN	5649	broad.mit.edu	37	7	103194142	103194142	+	Missense_Mutation	SNP	G	G	C	rs141509094		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:103194142G>C	uc003vca.2	-	39	6094	c.5934C>G	c.(5932-5934)ATC>ATG	p.I1978M	RELN_uc010liz.2_Missense_Mutation_p.I1978M	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1978					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATAAAGACCGATGTTACCAC	0.363		NaN											0	0	0	0.003163	0	14	24				
PTN	5764	broad.mit.edu	37	7	136935980	136935980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:136935980G>A	uc003vtq.2	-	4	811	c.448C>T	c.(448-450)CAA>TAA	p.Q150*	PTN_uc010lmx.2_Nonsense_Mutation_p.Q150*|PTN_uc003vtr.1_Nonsense_Mutation_p.Q150*	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	150					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						GACTTACCTTGAGGTTTGGGC	0.458		NaN											0	0	0	0.01441	0	45	125				
DENND2A	27147	broad.mit.edu	37	7	140301532	140301532	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:140301532C>T	uc010lnj.2	-	1	811	c.666G>A	c.(664-666)CTG>CTA	p.L222L	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.L222L|DENND2A_uc003vvw.2_Silent_p.L222L|DENND2A_uc003vvx.2_Silent_p.L222L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	222										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CCCTGCCTTCCAGGTCCGAGG	0.637		NaN											0	0	0	0.01441	0	50	130				
SSPO	23145	broad.mit.edu	37	7	149476138	149476138	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:149476138G>C	uc010lpk.2	+	8	1016	c.1016G>C	c.(1015-1017)GGA>GCA	p.G339A	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	339	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCCAGGCGGAGGGCTGGCC	0.637		NaN											0	0	0	0.013537	0	12	23				
RP1L1	94137	broad.mit.edu	37	8	10466760	10466760	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:10466760G>A	uc003wtc.2	-	4	5077	c.4848C>T	c.(4846-4848)CTC>CTT	p.L1616L		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1616					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGAAGGCCGAGAGGTTTCGCA	0.706		NaN											0	0	0	0.001855	0	13	12				
PCM1	5108	broad.mit.edu	37	8	17813004	17813004	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:17813004G>C	uc003wyi.3	+	10	1736	c.1314G>C	c.(1312-1314)CAG>CAC	p.Q438H	PCM1_uc011kyh.1_Missense_Mutation_p.Q438H|PCM1_uc003wyj.3_Missense_Mutation_p.Q438H|PCM1_uc003wyh.2_Missense_Mutation_p.Q477H|PCM1_uc010lta.1_Missense_Mutation_p.Q477H	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	438					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		GTGTCGATCAGAGAAGTACTT	0.433		NaN	T	RET|JAK2	papillary thyroid|CML|MPD								0	0	0	0.001168	0	6	6				
TRPA1	8989	broad.mit.edu	37	8	72987642	72987642	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:72987642C>T	uc003xza.2	-	1	178	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	1	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GGCTGCGCTTCATTGACCCCA	0.657		NaN											0	0	0	0.01441	0	49	54				
COL14A1	7373	broad.mit.edu	37	8	121170472	121170472	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:121170472G>A	uc003yox.2	+	3	457	c.192G>A	c.(190-192)GTG>GTA	p.V64V		NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	64	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCTTGTGACTCCAACTT	0.368		NaN											0	0	0	0.004482	0	8	42				
FER1L6	654463	broad.mit.edu	37	8	125035748	125035748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:125035748C>T	uc003yqw.2	+	18	2404	c.2198C>T	c.(2197-2199)GCC>GTC	p.A733V	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	733	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGGCCTATGCCCGCATCGCC	0.527		NaN											0	0	0	0.001168	0	4	100				
TG	7038	broad.mit.edu	37	8	134145801	134145801	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:134145801G>C	uc003ytw.2	+	47	8126	c.8085G>C	c.(8083-8085)GAG>GAC	p.E2695D	TG_uc010mdw.2_Missense_Mutation_p.E1454D|TG_uc011ljb.1_Missense_Mutation_p.E1064D|TG_uc011ljc.1_Missense_Mutation_p.E828D	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2695					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGTGGAGAGAACTACAAGG	0.522		NaN											0	0	0	0.003755	0	37	54				
SLC45A4	57210	broad.mit.edu	37	8	142228412	142228412	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:142228412C>T	uc003ywd.1	-	4	1482	c.1174G>A	c.(1174-1176)GCC>ACC	p.A392T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A392T|SLC45A4_uc010meq.1_Missense_Mutation_p.A390T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	443					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACGGCGTTGGCGCGCCGGTAG	0.692		NaN											0	0	0	0.000602	0	5	68				
BAI1	575	broad.mit.edu	37	8	143603352	143603352	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:143603352C>T	uc003ywm.2	+	20	3234	c.3051C>T	c.(3049-3051)TTC>TTT	p.F1017F		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1017	Helical; Name=3; (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCCGCCTTCCTGCACTTCT	0.687		NaN											0	0	0	0.004672	0	3	14				
ZNF251	90987	broad.mit.edu	37	8	145947781	145947781	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:145947781C>T	uc003zdv.3	-	5	1520	c.1264G>A	c.(1264-1266)GAA>AAA	p.E422K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTACGTGTTCAGTAAGATGA	0.448		NaN											0	0	0	0.01441	0	58	68				
DOCK8	81704	broad.mit.edu	37	9	463637	463637	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:463637G>A	uc003zgf.2	+	47	6301	c.6189G>A	c.(6187-6189)CGG>CGA	p.R2063R	DOCK8_uc010mgu.2_Silent_p.R1365R|DOCK8_uc010mgv.2_Silent_p.R1963R|DOCK8_uc003zgk.2_Silent_p.R1521R	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2063					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGATCGAGCGGAAAATTCCAG	0.458		NaN											0	0	0	0.010729	0	5	61				
RANBP6	26953	broad.mit.edu	37	9	6015339	6015339	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:6015339G>C	uc003zjr.2	-	1	280	c.269C>G	c.(268-270)CCT>CGT	p.P90R	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	90					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AACATCAGCAGGCAGATTTGG	0.433		NaN											0	0	0	0.00874	0	41	97				
DENND4C	55667	broad.mit.edu	37	9	19324474	19324474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:19324474G>A	uc003znq.2	+	9	1247	c.1214G>A	c.(1213-1215)GGA>GAA	p.G405E	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	405						integral to membrane				ovary(1)|skin(1)	2						AAAGATACTGGATTAGCATTT	0.303		NaN											0	0	0	0.01441	0	83	251				
FOXB2	442425	broad.mit.edu	37	9	79634833	79634833	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:79634833C>T	uc004ako.1	+	1	263	c.263C>T	c.(262-264)GCG>GTG	p.A88V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	88	Fork-head.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						AGCTTCTGGGCGCTGCACCCC	0.642		NaN											0	0	0	0.01441	0	55	14				
PTCH1	5727	broad.mit.edu	37	9	98229643	98229643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:98229643C>T	uc004avk.3	-	15	2503	c.2315G>A	c.(2314-2316)AGA>AAA	p.R772K	PTCH1_uc010mro.2_Missense_Mutation_p.R621K|PTCH1_uc010mrp.2_Missense_Mutation_p.R621K|PTCH1_uc010mrq.2_Missense_Mutation_p.R621K|PTCH1_uc004avl.3_Missense_Mutation_p.R621K|PTCH1_uc010mrr.2_Missense_Mutation_p.R706K|PTCH1_uc004avm.3_Missense_Mutation_p.R771K	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	772	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGCCCGTCTCTCACTCGGGT	0.478		NaN							Basal_Cell_Nevus_syndrome				0	0	0	0.011902	0	43	16				
RXRA	6256	broad.mit.edu	37	9	137293649	137293649	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:137293649T>C	uc004cfb.2	+	2	362	c.200T>C	c.(199-201)GTC>GCC	p.V67A	RXRA_uc004cfa.1_Silent_p.G117G	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTTTCTCGGTCATCAGCTCC	0.642		NaN											0	0	0	0.004672	0	3	117		Valid		
STS	412	broad.mit.edu	37	X	7268123	7268123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:7268123G>A	uc004cry.3	+	10	1818	c.1573G>A	c.(1573-1575)GAA>AAA	p.E525K		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	525	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCGGTTTTATGAAATCCTCAA	0.498		NaN							Ichthyosis				0	0	0	0.003163	0	15	10				
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:30873150C>G	uc004dcj.2	-	6	1295	c.632G>C	c.(631-633)AGA>ACA	p.R211T	TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	211	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						TTGTAAAGCTCTTGGTACAGT	0.423		NaN											0	0	0	0.006122	0	18	13				
ZMYM3	9203	broad.mit.edu	37	X	70472591	70472591	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70472591G>A	uc004dzh.1	-	2	602	c.515C>T	c.(514-516)TCC>TTC	p.S172F	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.S172F|ZMYM3_uc004dzj.1_Missense_Mutation_p.S172F|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzl.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzm.3_Missense_Mutation_p.S172F	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	172					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CTGCCCAGGGGAGCCCCTTCT	0.577		NaN											0	0	0	0.00632	0	25	7				
NONO	4841	broad.mit.edu	37	X	70514379	70514379	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70514379G>A	uc004dzo.2	+	6	1360	c.650_splice	c.e6+1	p.T217_splice	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Splice_Site_p.T217_splice|NONO_uc004dzp.2_Splice_Site_p.T217_splice|NONO_uc011mpv.1_Splice_Site_p.T128_splice|NONO_uc004dzq.2_Splice_Site_p.T86_splice	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					TGCTAACCACGTAAGTGAGGG	0.473		NaN	T	TFE3	papillary renal cancer								0	0	0	0.004482	0	9	1				
TTLL10	254173	broad.mit.edu	37	1	1120466	1120466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:1120466G>C	uc001acy.2	+	13	1529	c.1378G>C	c.(1378-1380)GAC>CAC	p.D460H	TTLL10_uc010nyg.1_Missense_Mutation_p.D460H|TTLL10_uc001acz.1_Missense_Mutation_p.D387H	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	460	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTCGCCAAGGACTGGGTCTT	0.632		NaN											0	0	0	0.000978	0	10	20				
CHD5	26038	broad.mit.edu	37	1	6206323	6206323	+	Missense_Mutation	SNP	C	C	T	rs141210110		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:6206323C>T	uc001amb.1	-	11	1851	c.1751G>A	c.(1750-1752)CGC>CAC	p.R584H	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	584					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GATGCCATAGCGGTAGAAGCG	0.607		NaN											0	0	0	0.003954	0	22	66				
SPEN	23013	broad.mit.edu	37	1	16255003	16255003	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:16255003C>G	uc001axk.1	+	11	2472	c.2268C>G	c.(2266-2268)TAC>TAG	p.Y756*	SPEN_uc010obp.1_Nonsense_Mutation_p.Y715*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	756	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGGCTTTACAGCCGATCCT	0.512		NaN											0	0	0	0.004656	0	27	65				
ZBTB8A	653121	broad.mit.edu	37	1	33059171	33059171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33059171G>C	uc001bvn.2	+	3	1124	c.639G>C	c.(637-639)TTG>TTC	p.L213F	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.L213F	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCAAACATTTGAGATTGTCAC	0.403		NaN											0	0	0	0.000978	0	12	38				
ZSCAN20	7579	broad.mit.edu	37	1	33957212	33957212	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:33957212G>A	uc001bxj.3	+	6	1521	c.1354G>A	c.(1354-1356)GAA>AAA	p.E452K	ZSCAN20_uc001bxk.2_Missense_Mutation_p.E398K|ZSCAN20_uc009vui.2_Missense_Mutation_p.E452K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	452					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAATGGCAGAAGACTGTAA	0.577		NaN											0	0	0	0.002445	0	32	55				
C1orf94	84970	broad.mit.edu	37	1	34663406	34663406	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:34663406C>T	uc001bxs.3	+	2	730	c.331C>T	c.(331-333)CCT>TCT	p.P111S	C1orf94_uc001bxt.2_Missense_Mutation_p.P301S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	111							protein binding				0		Myeloproliferative disorder(586;0.0393)				TCCTGCACGTCCTGACAAGCT	0.612		NaN											0	0	0	0.007413	0	18	40				
ARTN	9048	broad.mit.edu	37	1	44402240	44402240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:44402240C>T	uc001cks.2	+	5	1248	c.466C>T	c.(466-468)CGC>TGC	p.R156C	ARTN_uc001ckv.2_Missense_Mutation_p.R164C|ARTN_uc001ckt.2_Missense_Mutation_p.R164C|ARTN_uc001cku.2_Missense_Mutation_p.R156C|ARTN_uc001ckw.2_Missense_Mutation_p.R173C	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN	neurotrophic factor artemin isoform 1 precursor	156					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCCTGCCGCCGCGCGCGCTC	0.776		NaN											0	0	0	0.000248	0	4	4				
PLK3	1263	broad.mit.edu	37	1	45269884	45269884	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:45269884T>G	uc001cmn.2	+	11	1408	c.1308T>G	c.(1306-1308)TGT>TGG	p.C436W	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	436						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CAGCCCTTTGTGCTCTGAGAA	0.552		NaN											0	0	0	0.006122	0	19	35				
DNAJC6	9829	broad.mit.edu	37	1	65874363	65874363	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:65874363C>G	uc001dcd.1	+	17	2524	c.2360C>G	c.(2359-2361)TCT>TGT	p.S787C	DNAJC6_uc010opc.1_Missense_Mutation_p.S774C|DNAJC6_uc001dce.1_Missense_Mutation_p.S844C	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	787					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						GACCTACTCTCTGGTCAAGGT	0.368		NaN											0	0	0	0.001882	0	21	56				
DDAH1	23576	broad.mit.edu	37	1	85816110	85816110	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:85816110C>G	uc001dlb.2	-	4	746	c.585G>C	c.(583-585)CAG>CAC	p.Q195H	DDAH1_uc001dlc.2_Missense_Mutation_p.Q92H|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.Q95H|DDAH1_uc009wco.2_Missense_Mutation_p.Q92H	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	195					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TAAGGGCCTTCTGTGCAGATT	0.502		NaN											0	0	0	0.00361	0	49	95				
RBM15	64783	broad.mit.edu	37	1	110882243	110882243	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:110882243G>A	uc001dzl.1	+	1	299	c.216G>A	c.(214-216)AAG>AAA	p.K72K	RBM15_uc001dzm.1_Silent_p.K72K|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	72	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCGGAGCAAGAAGTTAGGGG	0.632		NaN	T	MKL1	acute megakaryocytic leukemia								0	0	0	0.006122	0	17	26				
NOTCH2NL	388677	broad.mit.edu	37	1	145281697	145281697	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:145281697C>T	uc001emn.3	+	4	997	c.627C>T	c.(625-627)TGC>TGT	p.C209C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.C209C|NOTCH2NL_uc001emo.2_Silent_p.C209C|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	209	EGF-like 6.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						AGTGCAACTGCCTTCCAGGTA	0.542		NaN											0	0	0	0.006214	0	9	127				
FMO5	2330	broad.mit.edu	37	1	146672821	146672821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672821G>C	uc001epi.2	-	7	1485	c.1096C>G	c.(1096-1098)CTT>GTT	p.L366V	FMO5_uc001eph.3_Missense_Mutation_p.L366V|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	366						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					ATGATTGCAAGAGTTGGCCTT	0.453		NaN											0	0	0	0.00245	0	14	33				
FMO5	2330	broad.mit.edu	37	1	146672902	146672902	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:146672902G>C	uc001epi.2	-	7	1404	c.1015C>G	c.(1015-1017)CTG>GTG	p.L339V	FMO5_uc001eph.3_Missense_Mutation_p.L339V|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	339						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GAATCTTCCAGAAACGGAAAG	0.448		NaN											0	0	0	0.007413	0	18	51				
ACP6	51205	broad.mit.edu	37	1	147124335	147124335	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:147124335G>A	uc001epr.2	-	7	1262	c.798C>T	c.(796-798)AGC>AGT	p.S266S	ACP6_uc009wjj.1_3'UTR	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	266					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					GCATGGGGCAGCTTGGGAGGT	0.493		NaN											0	0	0	0.003954	0	23	49				
MCL1	4170	broad.mit.edu	37	1	150551448	150551448	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:150551448G>A	uc001euz.2	-	1	689	c.559C>T	c.(559-561)CGG>TGG	p.R187W	MCL1_uc010pch.1_Missense_Mutation_p.R77W|MCL1_uc001eva.2_Missense_Mutation_p.R187W	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	187					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCTGCTCCCGAAGGTACCGA	0.647		NaN											0	0	0	0.003954	0	24	50				
TNFAIP8L2	79626	broad.mit.edu	37	1	151131260	151131260	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:151131260C>G	uc001ewx.2	+	2	213	c.87C>G	c.(85-87)CTC>CTG	p.L29L		NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein	29					innate immune response						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCTCATCTCTTCATAGATG	0.567		NaN											0	0	0	0.004656	0	24	34				
HRNR	388697	broad.mit.edu	37	1	152188523	152188523	+	Missense_Mutation	SNP	T	T	C	rs140946102		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152188523T>C	uc001ezt.1	-	3	5658	c.5582A>G	c.(5581-5583)CAT>CGT	p.H1861R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1861	20.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGACCCATGTCGGCCACT	0.592		NaN											0	0	0	0.00361	0	46	519				
IVL	3713	broad.mit.edu	37	1	152882414	152882414	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:152882414G>A	uc001fau.2	+	2	187	c.141G>A	c.(139-141)GTG>GTA	p.V47V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	47					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGAAGGTGCCTGTCGAGC	0.502		NaN											0	0	0	0.004482	0	7	44				
YY1AP1	55249	broad.mit.edu	37	1	155649255	155649255	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:155649255C>T	uc001fln.2	-	4	292	c.268G>A	c.(268-270)GAG>AAG	p.E90K	YY1AP1_uc010pgg.1_5'Flank|YY1AP1_uc010pgh.1_Missense_Mutation_p.E13K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E162K|YY1AP1_uc001flh.2_Missense_Mutation_p.E162K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E13K|YY1AP1_uc001flk.2_Missense_Mutation_p.E13K|YY1AP1_uc001fll.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.E13K|YY1AP1_uc001fli.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.E24K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E13K|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.E24K|YY1AP1_uc010pgj.1_Missense_Mutation_p.E90K|YY1AP1_uc009wqx.2_Missense_Mutation_p.E162K|YY1AP1_uc010pgk.1_Missense_Mutation_p.E162K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	90					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGCTCCTCCTCTTCTGGGCCA	0.483		NaN											0	0	0	0.003163	0	16	52				
RGL1	23179	broad.mit.edu	37	1	183853949	183853949	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:183853949C>T	uc001gqo.2	+	7	985	c.828C>T	c.(826-828)ATC>ATT	p.I276I	RGL1_uc010pof.1_Silent_p.I81I|RGL1_uc001gqm.2_Silent_p.I311I|RGL1_uc010pog.1_Silent_p.I274I|RGL1_uc010poh.1_Silent_p.I274I|RGL1_uc010poi.1_Silent_p.I276I	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	276	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						CTCCTACGATCCGTGCCACCA	0.478		NaN											0	0	0	0.007413	0	19	39				
PRG4	10216	broad.mit.edu	37	1	186280724	186280724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:186280724G>C	uc001gru.3	+	10	3840	c.3789G>C	c.(3787-3789)AAG>AAC	p.K1263N	PRG4_uc001grt.3_Missense_Mutation_p.K1222N|PRG4_uc009wyl.2_Missense_Mutation_p.K1170N|PRG4_uc009wym.2_Missense_Mutation_p.K1129N|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1263					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ATTTTTTCAAGAGAGGTATGT	0.313		NaN											0	0	0	0.003954	0	23	44				
PTPRC	5788	broad.mit.edu	37	1	198668734	198668734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:198668734G>A	uc001gur.1	+	5	514	c.334G>A	c.(334-336)GAC>AAC	p.D112N	PTPRC_uc001gus.1_Missense_Mutation_p.D112N|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.D48N|PTPRC_uc009wzf.1_Missense_Mutation_p.D48N|PTPRC_uc010ppg.1_Missense_Mutation_p.D48N|PTPRC_uc001guu.1_Missense_Mutation_p.D155N|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	112	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CACGCACGCAGACTCGCAGAC	0.527		NaN									OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00623	0	40	97				
KIF14	9928	broad.mit.edu	37	1	200550392	200550392	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200550392G>A	uc010ppk.1	-	20	3711	c.3272C>T	c.(3271-3273)TCA>TTA	p.S1091L	KIF14_uc010ppj.1_Missense_Mutation_p.S600L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1091	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						AATCATCATTGAGAGTTTCAT	0.328		NaN											0	0	0	0.00361	0	45	79				
PHLDA3	23612	broad.mit.edu	37	1	201437713	201437713	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:201437713C>A	uc001gwq.2	-	1	587	c.202G>T	c.(202-204)GGG>TGG	p.G68W	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	68	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						ATGTGGCGCCCGGTGCTCTCC	0.687		NaN											1	0	0.00307968	0.00308	0.00528666	7	80				
PPFIA4	8497	broad.mit.edu	37	1	203015064	203015064	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:203015064C>G	uc009xaj.2	+	12	1395	c.1395C>G	c.(1393-1395)CTC>CTG	p.L465L	PPFIA4_uc010pqf.1_Silent_p.L25L			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TCCATGACCTCAATGACAAGC	0.587		NaN											0	0	0	0.004289	0	37	103				
PPP2R5A	5525	broad.mit.edu	37	1	212530372	212530372	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:212530372C>G	uc001hjb.2	+	10	1633	c.1059C>G	c.(1057-1059)TTC>TTG	p.F353L	PPP2R5A_uc010ptd.1_Missense_Mutation_p.F294L	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	353					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AGCCACTTTTCAAGCAGATAT	0.308		NaN											0	0	0	0.00333	0	24	46				
TTC13	79573	broad.mit.edu	37	1	231051946	231051946	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:231051946C>T	uc001huf.3	-	18	2117	c.2086G>A	c.(2086-2088)GGA>AGA	p.G696R	TTC13_uc009xfi.2_Missense_Mutation_p.G643R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.G642R|TTC13_uc009xfk.1_Missense_Mutation_p.G585R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	696							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TACTTGTCTCCTGTAATCGTG	0.428		NaN											0	0	0	0.00623	0	39	103				
RYR2	6262	broad.mit.edu	37	1	237838043	237838043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:237838043C>G	uc001hyl.1	+	60	8847	c.8727C>G	c.(8725-8727)GAC>GAG	p.D2909E	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2909	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTTAAGGACCTGGAACTGG	0.378		NaN											0	0	0	0.000602	0	5	19				
CHRM3	1131	broad.mit.edu	37	1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:240072502G>A	uc001hyp.2	+	5	2530	c.1751G>A	c.(1750-1752)CGC>CAC	p.R584H		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTCACAAGCGCGCACCCGAG	0.522		NaN											0	0	0	0.001368	0	12	47				
PFKFB3	5209	broad.mit.edu	37	10	6258109	6258109	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:6258109G>C	uc001ije.2	+	4	705	c.321G>C	c.(319-321)TTG>TTC	p.L107F	PFKFB3_uc001ijd.2_Missense_Mutation_p.L87F|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.L121F|PFKFB3_uc001ijf.2_Missense_Mutation_p.L107F	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	107	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						TAGCTGCCTTGAGAGATGTCA	0.592		NaN											0	0	0	0.005524	0	35	63				
APBB1IP	54518	broad.mit.edu	37	10	26800746	26800746	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:26800746G>C	uc001iss.2	+	7	923	c.602G>C	c.(601-603)CGA>CCA	p.R201P	APBB1IP_uc009xks.1_Missense_Mutation_p.R201P	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	201	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						CAGCTGGCCCGAGATGTTCTG	0.473		NaN											0	0	0	0.00278	0	22	64				
WAC	51322	broad.mit.edu	37	10	28906704	28906704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:28906704G>A	uc001iuf.2	+	13	1950	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q	WAC_uc001iud.2_Missense_Mutation_p.R577Q|WAC_uc001iue.2_Missense_Mutation_p.R312Q|WAC_uc001iug.2_Missense_Mutation_p.R519Q|WAC_uc001iuh.2_Missense_Mutation_p.R573Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	622	Potential.				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						GCAACTTTGCGAGAGCAAAGG	0.299		NaN											0	0	0	0.00308	0	6	22				
ANK3	288	broad.mit.edu	37	10	61829613	61829613	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61829613C>G	uc001jky.2	-	37	11218	c.11026G>C	c.(11026-11028)GAG>CAG	p.E3676Q	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3676					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTAGGTGTCTCTACATTTCTC	0.552		NaN											0	0	0	0.00245	0	15	52				
ANK3	288	broad.mit.edu	37	10	61959942	61959942	+	Missense_Mutation	SNP	G	G	T	rs138255802		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:61959942G>T	uc001jky.2	-	13	1628	c.1436C>A	c.(1435-1437)GCT>GAT	p.A479D	ANK3_uc010qih.1_Missense_Mutation_p.A462D|ANK3_uc001jkz.3_Missense_Mutation_p.A473D|ANK3_uc001jlb.1_Missense_Mutation_p.A8D|ANK3_uc001jlc.1_Missense_Mutation_p.A140D	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	479	ANK 13.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CACAACTTCAGCTTGGCCGGA	0.463		NaN											1	0	8.00594e-06	0.007413	1.42436e-05	16	40				
SYNPO2L	79933	broad.mit.edu	37	10	75407393	75407393	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75407393C>T	uc001jut.3	-	4	2169	c.2017G>A	c.(2017-2019)GAA>AAA	p.E673K	SYNPO2L_uc001jus.3_Missense_Mutation_p.E449K	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	673	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GCATCTTCTTCAGGACCAGAT	0.592		NaN											0	0	0	0.00361	0	44	120				
KIAA0913	23053	broad.mit.edu	37	10	75555297	75555297	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75555297G>A	uc009xrl.2	+	15	2926	c.2894G>A	c.(2893-2895)GGC>GAC	p.G965D	KIAA0913_uc001jve.2_Missense_Mutation_p.G970D|KIAA0913_uc001jvf.2_Missense_Mutation_p.G965D|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G393D|KIAA0913_uc010qkr.1_Missense_Mutation_p.G388D|KIAA0913_uc001jvj.2_Missense_Mutation_p.G388D	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	965							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					TTTCTCGCAGGCATGAAGACA	0.488		NaN											0	0	0	0.00361	0	42	107				
AP3M1	26985	broad.mit.edu	37	10	75886013	75886013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:75886013C>G	uc001jwf.2	-	7	1334	c.904G>C	c.(904-906)GGG>CGG	p.G302R	AP3M1_uc001jwg.2_Missense_Mutation_p.G302R|AP3M1_uc001jwh.2_Missense_Mutation_p.G302R|AP3M1_uc010qla.1_Missense_Mutation_p.G248R	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	302	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					ATAGTTTTCCCCATATTCTGC	0.403		NaN											0	0	0	0.001882	0	21	73				
KCNMA1	3778	broad.mit.edu	37	10	78649235	78649235	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:78649235G>A	uc001jxn.2	-	27	3612	c.3435C>T	c.(3433-3435)CTC>CTT	p.L1145L	KCNMA1_uc001jxj.2_Silent_p.L1091L|KCNMA1_uc001jxk.1_Silent_p.L763L|KCNMA1_uc009xrt.1_Silent_p.L936L|KCNMA1_uc001jxl.1_Silent_p.L770L|KCNMA1_uc001jxo.2_Silent_p.L1128L|KCNMA1_uc001jxm.2_Silent_p.L1087L|KCNMA1_uc001jxq.2_Silent_p.L1117L|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1145	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGGGGTGCTGAGGTGAGCAT	0.443		NaN											0	0	0	0.008871	0	18	54				
CYP26C1	340665	broad.mit.edu	37	10	94824180	94824180	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:94824180G>T	uc010qns.1	+	4	748	c.748G>T	c.(748-750)GCC>TCC	p.A250S	CYP26C1_uc009xud.2_Intron	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	250					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				CCTGGAGGGGGCCATTTCTGA	0.612		NaN											1	0	5.4927e-09	0.004482	9.99045e-09	8	25				
HIF1AN	55662	broad.mit.edu	37	10	102295784	102295784	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:102295784C>T	uc001krj.3	+	1	144	c.69C>T	c.(67-69)CTC>CTT	p.L23L		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	23	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGGAGCCCTCGGCCCCGCCT	0.537		NaN									OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	4				
SORCS3	22986	broad.mit.edu	37	10	106970924	106970924	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:106970924G>T	uc001kyi.1	+	17	2518	c.2291G>T	c.(2290-2292)AGC>ATC	p.S764I	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	764	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity	p.S764N(1)		ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGGGAGAGCCAGTGTGTC	0.443		NaN											1	0	2.61681e-11	0.00245	4.83155e-11	12	22				
NRAP	4892	broad.mit.edu	37	10	115349525	115349525	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:115349525C>G	uc001laj.2	-	41	5152	c.4988G>C	c.(4987-4989)AGA>ACA	p.R1663T	NRAP_uc009xyb.2_Missense_Mutation_p.R416T|NRAP_uc001lak.2_Missense_Mutation_p.R1628T|NRAP_uc001lal.3_Missense_Mutation_p.R1663T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1663	Nebulin 44.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCAACACCTCTGGTCAGGTT	0.542		NaN											0	0	0	0.001786	0	30	58				
DMBT1	1755	broad.mit.edu	37	10	124392811	124392811	+	Missense_Mutation	SNP	G	G	C	rs112645522		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:124392811G>C	uc001lgk.1	+	49	6221	c.6115G>C	c.(6115-6117)GAG>CAG	p.E2039Q	DMBT1_uc001lgl.1_Missense_Mutation_p.E2029Q|DMBT1_uc001lgm.1_Missense_Mutation_p.E1411Q|DMBT1_uc009xzz.1_Missense_Mutation_p.E2038Q|DMBT1_uc010qtx.1_Missense_Mutation_p.E759Q|DMBT1_uc009yab.1_Missense_Mutation_p.E742Q|DMBT1_uc009yac.1_Missense_Mutation_p.E333Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2039	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGGACATTGAGGTGCAAAA	0.512		NaN											0	0	0	0.005443	0	25	55				
DOCK1	1793	broad.mit.edu	37	10	128798508	128798508	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:128798508G>A	uc001ljt.2	+	10	986	c.922G>A	c.(922-924)GAG>AAG	p.E308K	DOCK1_uc010qun.1_Missense_Mutation_p.E308K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	308					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGGTCGCATGGAGCTGAGGGA	0.453		NaN											0	0	0	0.000978	0	11	37				
ZNF511	118472	broad.mit.edu	37	10	135125328	135125328	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr10:135125328G>T	uc001lml.1	+	5	688	c.663G>T	c.(661-663)AGG>AGT	p.R221S	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.R221S|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CAGGTGAGAGGCGGATCTACA	0.602		NaN											1	0	0.000132079	0.008871	0.000230509	19	72				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:534288C>T	uc001lpv.2	-	2	223	c.35G>A	c.(34-36)GGC>GAC	p.G12D	HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			0	0	0	0.006214	0	8	30		Valid		
LRDD	55367	broad.mit.edu	37	11	802583	802583	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:802583G>T	uc001lro.1	-	5	1076	c.934C>A	c.(934-936)CCA>ACA	p.P312T	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.P312T|LRDD_uc001lrl.1_Missense_Mutation_p.P166T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.P166T|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	312					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCATTTCTGGAATGAGGGCT	0.587		NaN											1	0	2.56e-06	0.000248	4.56564e-06	4	11				
TRIM21	6737	broad.mit.edu	37	11	4411526	4411526	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:4411526T>A	uc001lyy.1	-	2	227	c.114A>T	c.(112-114)GAA>GAT	p.E38D		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	38	RING-type.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAGAGATGCATTCCTGGCAGA	0.587		NaN											0	0	0	0.00623	0	37	66				
OR52L1	338751	broad.mit.edu	37	11	6008147	6008147	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6008147G>C	uc001mcd.2	-	1	69	c.14C>G	c.(13-15)TCT>TGT	p.S5C		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAAAAAAGAAACCAAAGT	0.423		NaN											0	0	0	0.00499	0	16	41				
OR2D3	120775	broad.mit.edu	37	11	6943194	6943194	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:6943194T>C	uc010rav.1	+	1	962	c.962T>C	c.(961-963)GTT>GCT	p.V321A		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	321	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAAACTAGTTGGGAGAAAG	0.398		NaN											0	0	0	0.001855	0	14	30				
E2F8	79733	broad.mit.edu	37	11	19256582	19256582	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:19256582C>T	uc001mpm.2	-	5	997	c.475G>A	c.(475-477)GAT>AAT	p.D159N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D159N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	159	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTCACGATATCGTAAATGCGT	0.423		NaN											0	0	0	0.008291	0	9	21				
COMMD9	29099	broad.mit.edu	37	11	36297787	36297787	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:36297787G>C	uc001mwn.3	-	5	393	c.356C>G	c.(355-357)TCT>TGT	p.S119C	COMMD9_uc009ykj.2_Missense_Mutation_p.S77C|COMMD9_uc009yki.1_5'Flank	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	119										ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GCGTGGCAGAGAGACTGTGGA	0.557		NaN											0	0	0	0.001855	0	12	32				
TNKS1BP1	85456	broad.mit.edu	37	11	57075938	57075938	+	Nonsense_Mutation	SNP	G	G	T	rs141792675	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:57075938G>T	uc001njr.2	-	5	4559	c.4247C>A	c.(4246-4248)TCG>TAG	p.S1416*	TNKS1BP1_uc001njs.2_Nonsense_Mutation_p.S1416*|TNKS1BP1_uc009ymd.1_Nonsense_Mutation_p.S867*	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1416	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CAAGGAAGACGAGGAGTAATC	0.607		NaN											1	0	3.1745e-13	0.008361	5.90585e-13	32	219				
OR5A1	219982	broad.mit.edu	37	11	59211229	59211229	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211229C>T	uc001nnx.1	+	1	588	c.588C>T	c.(586-588)TTC>TTT	p.F196F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						CTGACACCTTCCTCAGTCAAG	0.512		NaN											0	0	0	0.00361	0	66	142				
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:59211279C>A	uc001nnx.1	+	1	638	c.638C>A	c.(637-639)TCG>TAG	p.S213*		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GGAGGAACATCGTTCCTCCAA	0.542		NaN											1	0	4.00472e-15	0.00361	7.50757e-15	47	98				
GANAB	23193	broad.mit.edu	37	11	62396347	62396347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:62396347G>A	uc001nub.2	-	17	2107	c.2074C>T	c.(2074-2076)CAG>TAG	p.Q692*	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Nonsense_Mutation_p.Q714*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q595*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q600*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q578*	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	692					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						TCATTGTGCTGAGATGGTAAC	0.547		NaN											0	0	0	0.006999	0	40	101				
NPAS4	266743	broad.mit.edu	37	11	66192075	66192075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66192075G>A	uc001ohx.1	+	7	1890	c.1714G>A	c.(1714-1716)GAG>AAG	p.E572K	NPAS4_uc010rpc.1_Missense_Mutation_p.E362K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	572					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TTTTCTCTATGAGAAGTTGCC	0.602		NaN											0	0	0	0.005524	0	35	115				
RBM14	10432	broad.mit.edu	37	11	66384516	66384516	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:66384516G>C	uc001oit.2	+	1	464	c.325G>C	c.(325-327)GAC>CAC	p.D109H	RBM14_uc009yrh.2_Missense_Mutation_p.D109H|RBM14_uc009yri.2_Missense_Mutation_p.D109H|RBM4_uc009yrj.2_5'UTR|RBM4_uc009yrk.2_Missense_Mutation_p.D109H	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	109	RRM 2.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CATCGAGTGTGACGTGGTGAA	0.652		NaN											0	0	0	0.006122	0	16	43				
TBC1D10C	374403	broad.mit.edu	37	11	67173129	67173129	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67173129C>G	uc001ola.2	+	5	453	c.424C>G	c.(424-426)CAA>GAA	p.Q142E	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Missense_Mutation_p.Q142E|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGCACCGTCAATTCCCTCT	0.647		NaN											0	0	0	0.00499	0	16	41				
GSTP1	2950	broad.mit.edu	37	11	67353675	67353675	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:67353675G>T	uc001omf.2	+	6	686	c.437G>T	c.(436-438)GGA>GTA	p.G146V	GSTP1_uc001omg.1_Missense_Mutation_p.G127V	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	146	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TTCATTGTGGGAGACCAGGTG	0.567		NaN											1	0	2.17888e-05	0.006214	3.83922e-05	9	16				
SERPINH1	871	broad.mit.edu	37	11	75277666	75277666	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:75277666C>T	uc001owr.2	+	2	501	c.272C>T	c.(271-273)TCG>TTG	p.S91L	SERPINH1_uc009yuf.2_Missense_Mutation_p.S91L|SERPINH1_uc009yug.2_Missense_Mutation_p.S91L|SERPINH1_uc001ows.2_Missense_Mutation_p.S91L|SERPINH1_uc001owt.2_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	91					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					ACCACGGCGTCGCAGGCCAAG	0.701		NaN											0	0	0	0.001168	0	6	19				
DLG2	1740	broad.mit.edu	37	11	83641425	83641425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:83641425G>C	uc001paj.2	-	10	1430	c.1127C>G	c.(1126-1128)TCA>TGA	p.S376*	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Nonsense_Mutation_p.S343*|DLG2_uc010rsz.1_Nonsense_Mutation_p.S376*|DLG2_uc010rta.1_Nonsense_Mutation_p.S376*|DLG2_uc001pak.2_Nonsense_Mutation_p.S481*|DLG2_uc010rtb.1_Nonsense_Mutation_p.S343*|DLG2_uc001pal.1_Nonsense_Mutation_p.S376*|DLG2_uc001pam.1_Nonsense_Mutation_p.S415*	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	376						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATAGGGAGCTGAGAGGAGGAA	0.512		NaN											0	0	0	0.001882	0	19	51				
TYR	7299	broad.mit.edu	37	11	89028453	89028453	+	Silent	SNP	G	G	A	rs138750983	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:89028453G>A	uc001pcs.2	+	5	1591	c.1509G>A	c.(1507-1509)AAG>AAA	p.K503K		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	503	Cytoplasmic (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCGTCACAAGAGAAAGCAGC	0.532		NaN							Oculocutaneous_Albinism				0	0	0	0.004482	0	8	26				
DYNC2H1	79659	broad.mit.edu	37	11	103041631	103041631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103041631C>T	uc001pho.2	+	34	5312	c.5168C>T	c.(5167-5169)TCA>TTA	p.S1723L	DYNC2H1_uc001phn.1_Missense_Mutation_p.S1723L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1723	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGTGAAGTCAATGGGACGA	0.299		NaN											0	0	0	0.001984	0	7	20				
DDI1	414301	broad.mit.edu	37	11	103908506	103908506	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:103908506C>G	uc001phr.2	+	1	1199	c.956C>G	c.(955-957)TCC>TGC	p.S319C	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	319					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTCTTTCTCCATACTTGAG	0.453		NaN											0	0	0	0.002836	0	33	86				
CADM1	23705	broad.mit.edu	37	11	115085457	115085457	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:115085457G>C	uc001ppi.3	-	7	994	c.865C>G	c.(865-867)CAA>GAA	p.Q289E	CADM1_uc001ppf.3_Missense_Mutation_p.Q289E|CADM1_uc001ppk.3_Missense_Mutation_p.Q289E|CADM1_uc001ppj.3_Missense_Mutation_p.Q289E|CADM1_uc001ppl.2_Missense_Mutation_p.Q289E|CADM1_uc001pph.3_Missense_Mutation_p.Q41E	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	289	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACGGCGTGTTGAGGCATTTCA	0.473		NaN											0	0	0	0.002836	0	28	71				
CD3E	916	broad.mit.edu	37	11	118185207	118185207	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:118185207G>C	uc001psq.3	+	8	821	c.565G>C	c.(565-567)GAG>CAG	p.E189Q		NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	189	Cytoplasmic (Potential).|ITAM.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CCCAGACTATGAGGTAACGTG	0.557		NaN											0	0	0	0.004482	0	9	14				
ABCG4	64137	broad.mit.edu	37	11	119029009	119029009	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:119029009C>G	uc001pvs.2	+	10	1470	c.1134C>G	c.(1132-1134)TTC>TTG	p.F378L	ABCG4_uc009zar.2_Missense_Mutation_p.F378L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	378	Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATCCTCTTCAAGAGGACCT	0.577		NaN											0	0	0	0.00361	0	94	183				
TECTA	7007	broad.mit.edu	37	11	120980049	120980049	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:120980049G>C	uc010rzo.1	+	3	328	c.328G>C	c.(328-330)GAG>CAG	p.E110Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	110	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATTCGAGGCGAGATCTATTA	0.512		NaN											0	0	0	0.001786	0	28	58				
OR8B4	283162	broad.mit.edu	37	11	124294715	124294715	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124294715G>A	uc010sak.1	-	1	53	c.53C>T	c.(52-54)TCA>TTA	p.S18L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGGCTGTTCTGATAATCCCAC	0.478		NaN											0	0	0	0.00499	0	17	36				
SIAE	54414	broad.mit.edu	37	11	124524628	124524628	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124524628G>A	uc001qan.2	-	4	580	c.467C>T	c.(466-468)TCT>TTT	p.S156F		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor	156						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GGGAGAGACAGAGAGGATGCG	0.488		NaN											0	0	0	0.00361	0	50	114				
ROBO4	54538	broad.mit.edu	37	11	124766183	124766183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:124766183G>A	uc001qbg.2	-	4	730	c.590C>T	c.(589-591)GCA>GTA	p.A197V	ROBO4_uc010sas.1_Missense_Mutation_p.A52V|ROBO4_uc001qbh.2_Missense_Mutation_p.A87V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	197	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTCTTCTCTGCTCTTGCCAT	0.617		NaN											0	0	0	0.002299	0	21	52				
NTM	50863	broad.mit.edu	37	11	132082042	132082042	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr11:132082042G>A	uc001qgp.2	+	3	1190	c.526_splice	c.e3+1	p.A176_splice	NTM_uc001qgm.2_Splice_Site_p.A176_splice|NTM_uc010sch.1_Splice_Site_p.A167_splice|NTM_uc010sci.1_Splice_Site_p.A176_splice|NTM_uc010scj.1_Splice_Site_p.A135_splice|NTM_uc001qgo.2_Splice_Site_p.A176_splice|NTM_uc001qgq.2_Splice_Site_p.A176_splice|NTM_uc001qgr.2_Splice_Site	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1						cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						TCTCCCAAAGGTAAGAGAACA	0.453		NaN											0	0	0	0.005524	0	35	89				
KCNA1	3736	broad.mit.edu	37	12	5021124	5021124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:5021124G>A	uc001qnh.2	+	2	1685	c.580G>A	c.(580-582)GAT>AAT	p.D194N		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	194					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAGCTGAAGGATGACAAGGA	0.572		NaN											0	0	0	0.00499	0	18	30				
CHD4	1108	broad.mit.edu	37	12	6690875	6690875	+	Missense_Mutation	SNP	G	G	C	rs143753094		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6690875G>C	uc001qpo.2	-	31	4785	c.4621C>G	c.(4621-4623)CCT>GCT	p.P1541A	CHD4_uc001qpn.2_Missense_Mutation_p.P1534A|CHD4_uc001qpp.2_Missense_Mutation_p.P1566A|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1541					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGGGTGTAGGAGTTTTTGGG	0.547		NaN											0	0	0	0.008871	0	19	66				
CHD4	1108	broad.mit.edu	37	12	6692427	6692427	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:6692427G>C	uc001qpo.2	-	26	4161	c.3997C>G	c.(3997-3999)CTG>GTG	p.L1333V	CHD4_uc001qpn.2_Missense_Mutation_p.L1326V|CHD4_uc001qpp.2_Missense_Mutation_p.L1330V|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1333					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTTTGCCCAGATTTCGGGCT	0.537		NaN											0	0	0	0.00361	0	89	171				
KIAA1467	57613	broad.mit.edu	37	12	13219676	13219676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:13219676G>A	uc001rbi.2	+	6	978	c.955G>A	c.(955-957)GTT>ATT	p.V319I	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	319						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGTCCTCAGGTTTACATCAC	0.502		NaN											0	0	0	0.001368	0	12	42				
GUCY2C	2984	broad.mit.edu	37	12	14840914	14840914	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:14840914C>T	uc001rcd.2	-	2	438	c.301G>A	c.(301-303)GAA>AAA	p.E101K	GUCY2C_uc009zhz.2_Missense_Mutation_p.E101K	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	101	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCGAGGCCTTCACAGGTGCTA	0.488		NaN											0	0	0	0.00632	0	25	76				
C12orf72	254013	broad.mit.edu	37	12	31819050	31819050	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:31819050G>A	uc009zjr.2	+	3	553	c.344G>A	c.(343-345)AGA>AAA	p.R115K	C12orf72_uc001rkl.2_Missense_Mutation_p.R115K|C12orf72_uc001rkm.2_Missense_Mutation_p.R115K	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	115						cytoplasm	protein methyltransferase activity				0						GATGTTGTCAGAGGAAAATCT	0.353		NaN											0	0	0	0.001855	0	14	31				
LRRK2	120892	broad.mit.edu	37	12	40716180	40716180	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:40716180C>T	uc001rmg.3	+	37	5498	c.5377C>T	c.(5377-5379)CCT>TCT	p.P1793S	LRRK2_uc009zjw.2_Missense_Mutation_p.P631S|LRRK2_uc001rmi.2_Missense_Mutation_p.P626S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1793					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAATGGTTTCCTGGGTTGCT	0.383		NaN											0	0	0	0.002222	0	40	109				
ADAMTS20	80070	broad.mit.edu	37	12	43925874	43925874	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:43925874G>A	uc010skx.1	-	3	578	c.578C>T	c.(577-579)TCT>TTT	p.S193F		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	193						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCAGAAAAGAGTTATTTAA	0.328		NaN											0	0	0	0.001855	0	14	23				
KRT8	3856	broad.mit.edu	37	12	53298670	53298670	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:53298670G>A	uc001sbd.2	-	1	199	c.96C>T	c.(94-96)CGC>CGT	p.R32R	KRT8_uc009zmj.2_Silent_p.R32R|KRT8_uc009zmk.1_Silent_p.R60R|KRT8_uc009zml.1_Silent_p.R32R|KRT8_uc009zmm.1_Silent_p.R32R	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	32	Head.|Ser-rich.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGCTGATGCGGGAACCGG	0.667		NaN											0	0	0	0.008291	0	11	13				
TMEM194A	23306	broad.mit.edu	37	12	57453736	57453736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453736C>T	uc001smy.2	-	9	1307	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K	TMEM194A_uc001smx.2_Missense_Mutation_p.E348K|TMEM194A_uc010sra.1_Missense_Mutation_p.E162K	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	421						integral to membrane					0						GATGCTTCCTCATAGATTTCA	0.463		NaN											0	0	0	0.001368	0	13	33				
TMEM194A	23306	broad.mit.edu	37	12	57453784	57453784	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57453784C>T	uc001smy.2	-	9	1259	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	TMEM194A_uc001smx.2_Missense_Mutation_p.E332K|TMEM194A_uc010sra.1_Missense_Mutation_p.E146K	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	405						integral to membrane					0						TACTCCTGCTCATGGACAGAA	0.448		NaN											0	0	0	0.003163	0	15	46				
GLI1	2735	broad.mit.edu	37	12	57865455	57865455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57865455G>C	uc001snx.2	+	12	3010	c.2932G>C	c.(2932-2934)GCA>CCA	p.A978P	GLI1_uc009zpq.2_Missense_Mutation_p.A850P	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	978					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TGTAGTGGGGGCAAATAGGGC	0.537		NaN											0	0	0	0.003271	0	34	62				
ARHGAP9	64333	broad.mit.edu	37	12	57871349	57871349	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:57871349C>G	uc001sod.2	-	7	1055	c.862G>C	c.(862-864)GAT>CAT	p.D288H	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.D33H|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soc.2_Missense_Mutation_p.D217H|ARHGAP9_uc001soe.1_Missense_Mutation_p.D296H|ARHGAP9_uc010sro.1_Missense_Mutation_p.D217H	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	217	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCCAGGCATCCAGCCTCTGC	0.642		NaN											0	0	0	0.001882	0	20	52				
LRRIQ1	84125	broad.mit.edu	37	12	85438530	85438530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:85438530G>A	uc001tac.2	+	4	390	c.279G>A	c.(277-279)ATG>ATA	p.M93I	LRRIQ1_uc001tab.1_Missense_Mutation_p.M93I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M93I|LRRIQ1_uc001tad.2_Missense_Mutation_p.M1I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	93										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATAATCATATGCATTTAAGAA	0.259		NaN											0	0	0	0.008291	0	9	30				
UBE3B	89910	broad.mit.edu	37	12	109927779	109927779	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109927779C>G	uc001top.2	+	8	1203	c.600C>G	c.(598-600)CTC>CTG	p.L200L	UBE3B_uc001toq.2_Silent_p.L200L|UBE3B_uc001tol.1_Silent_p.L200L|UBE3B_uc001tom.2_Silent_p.L200L|UBE3B_uc001ton.2_Silent_p.L200L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L200L|UBE3B_uc001tor.2_Silent_p.L200L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TGGGACATCTCAACCAGCATG	0.428		NaN											0	0	0	0.001786	0	27	79				
UBE3B	89910	broad.mit.edu	37	12	109928922	109928922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109928922C>G	uc001top.2	+	9	1306	c.703C>G	c.(703-705)CTA>GTA	p.L235V	UBE3B_uc001toq.2_Missense_Mutation_p.L235V|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.L235V	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	235					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGCTTTTTCTCTAGCGTTACG	0.428		NaN											0	0	0	0.004656	0	19	35				
UBE3B	89910	broad.mit.edu	37	12	109937445	109937445	+	Silent	SNP	C	C	G	rs150323950	by1000genomes	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109937445C>G	uc001top.2	+	12	1551	c.948C>G	c.(946-948)CTC>CTG	p.L316L	UBE3B_uc001toq.2_Silent_p.L316L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L316L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	316					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TAGGCAACCTCCTACACTTGG	0.582		NaN											0	0	0	0.001168	0	6	12				
UBE3B	89910	broad.mit.edu	37	12	109939251	109939251	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109939251C>A	uc001top.2	+	13	1797	c.1194C>A	c.(1192-1194)TTC>TTA	p.F398L	UBE3B_uc001toq.2_Missense_Mutation_p.F398L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.F398L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	398					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GGATCTTCTTCTGTGACATCC	0.562		NaN											1	0	2.91434e-09	0.004878	5.31395e-09	37	88				
UBE3B	89910	broad.mit.edu	37	12	109961811	109961811	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:109961811C>G	uc001top.2	+	22	2996	c.2393C>G	c.(2392-2394)TCC>TGC	p.S798C	UBE3B_uc001toq.2_Missense_Mutation_p.S798C|UBE3B_uc001tos.2_Missense_Mutation_p.S225C|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S798C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	798	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CCATTTGCATCCTTCTTCCTG	0.532		NaN											0	0	0	0.008361	0	28	101				
DYNLL1	8655	broad.mit.edu	37	12	120935923	120935923	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:120935923G>C	uc001tyj.2	+	3	434	c.180G>C	c.(178-180)AGG>AGC	p.R60S	uc001tyk.1_5'Flank|DYNLL1_uc001tyl.2_Missense_Mutation_p.R60S|DYNLL1_uc001tym.2_Missense_Mutation_p.R60S	NM_001037494	NP_001032583	P63167	DYL1_HUMAN	dynein light chain 1	60					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGTGGGGAGGAACTTCGGTA	0.418		NaN											0	0	0	0.006214	0	8	29				
ZNF664	144348	broad.mit.edu	37	12	124496822	124496822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:124496822C>T	uc001ufz.2	+	6	1961	c.131C>T	c.(130-132)TCA>TTA	p.S44L	ZNF664_uc001uga.2_Missense_Mutation_p.S44L|ZNF664_uc001ugb.2_Missense_Mutation_p.S44L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	44	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTTCATATATCAGAACTTCAT	0.353		NaN											0	0	0	0.00278	0	22	86				
TMEM132B	114795	broad.mit.edu	37	12	125834167	125834167	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr12:125834167C>T	uc001uhe.1	+	2	230	c.222C>T	c.(220-222)TTC>TTT	p.F74F		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	74	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCATTCTTCATCTACCGAG	0.512		NaN											0	0	0	0.00361	0	48	97				
IFT88	8100	broad.mit.edu	37	13	21175890	21175890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:21175890C>T	uc001unh.2	+	14	1282	c.886C>T	c.(886-888)CAG>TAG	p.Q296*	IFT88_uc001uni.2_Nonsense_Mutation_p.Q287*|IFT88_uc001unj.2_Nonsense_Mutation_p.Q286*|IFT88_uc010tcq.1_Nonsense_Mutation_p.Q267*|IFT88_uc001unk.2_Intron	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	296	TPR 3.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGGCTGGTCAGTATTCAGA	0.338		NaN											0	0	0	0.001855	0	13	52				
MTUS2	23281	broad.mit.edu	37	13	29599309	29599309	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:29599309T>C	uc001usl.3	+	1	562	c.504T>C	c.(502-504)GTT>GTC	p.V168V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	158						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CCCGGCATGTTCCCAAGGATA	0.507		NaN											0	0	0	0.005443	0	26	59				
NHLRC3	387921	broad.mit.edu	37	13	39621205	39621205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:39621205G>C	uc001uxc.2	+	6	1029	c.707G>C	c.(706-708)AGA>ACA	p.R236T	NHLRC3_uc001uxd.2_Missense_Mutation_p.R169T|NHLRC3_uc001uxe.2_Missense_Mutation_p.R39T	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a	236	NHL 3.					extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GGAAATAAAAGAATCCAAGTA	0.358		NaN											0	0	0	0.001523	0	20	40				
PCDH8	5100	broad.mit.edu	37	13	53422431	53422431	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:53422431C>T	uc001vhi.2	-	1	344	c.141G>A	c.(139-141)GGG>GGA	p.G47G	PCDH8_uc001vhj.2_Silent_p.G47G	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	47	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGCCAGGGTCCCGATGACCG	0.602		NaN											0	0	0	0.00333	0	24	85				
GPC5	2262	broad.mit.edu	37	13	92560309	92560309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:92560309C>T	uc010tif.1	+	6	1765	c.1399C>T	c.(1399-1401)CAG>TAG	p.Q467*		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	467						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATGTTGTTCAGGTAAGTCC	0.313		NaN											0	0	0	0.00308	0	7	14				
GPC6	10082	broad.mit.edu	37	13	93879779	93879779	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:93879779G>A	uc001vlt.2	+	1	702	c.70G>A	c.(70-72)GAT>AAT	p.D24N	GPC6_uc010tig.1_Missense_Mutation_p.D24N	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	24						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CGCCGGGGCGGATGTGAAGGC	0.632		NaN									OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978	0	12	41				
UGGT2	55757	broad.mit.edu	37	13	96506627	96506627	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:96506627G>T	uc001vmt.2	-	35	4281	c.4111C>A	c.(4111-4113)CGT>AGT	p.R1371S	UGGT2_uc001vms.2_Missense_Mutation_p.R91S	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1371	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTCCAGAAACGATATCCATCC	0.393		NaN											1	0	0.000442599	0.006214	0.000766963	9	31				
ZNF828	283489	broad.mit.edu	37	13	115090045	115090045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr13:115090045C>T	uc010ahb.2	+	3	1057	c.728C>T	c.(727-729)TCA>TTA	p.S243L	ZNF828_uc001vuv.2_Missense_Mutation_p.S243L|ZNF828_uc010tko.1_Missense_Mutation_p.S243L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	243	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		CCTTCAGCCTCATCTCCAGAG	0.552		NaN											0	0	0	0.00623	0	40	67				
OR4M1	441670	broad.mit.edu	37	14	20248955	20248955	+	Silent	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:20248955A>T	uc010tku.1	+	1	474	c.474A>T	c.(472-474)ATA>ATT	p.I158I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCTATAATACAGGTGGCTC	0.502		NaN											0	0	0	0.006999	0	38	292				
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:24729739C>A	uc001wod.2	-	4	798	c.674G>T	c.(673-675)CGC>CTC	p.R225L	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	225			R -> P (in ARCI-TGM1).|R -> H (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587		NaN											1	0	1.2644e-06	0.001523	2.26604e-06	20	64				
FANCM	57697	broad.mit.edu	37	14	45642298	45642298	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:45642298C>G	uc001wwd.3	+	13	2300	c.2201C>G	c.(2200-2202)TCT>TGT	p.S734C	FANCM_uc010anf.2_Missense_Mutation_p.S708C|FANCM_uc001wwe.3_Missense_Mutation_p.S270C|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	734					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CTCTCTCTCTCTGAATGGAGA	0.363		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.002299	0	22	42				
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:51378884C>T	uc001wyu.2	-	14	1885	c.1758G>A	c.(1756-1758)ACG>ACA	p.T586T	PYGL_uc010tqq.1_Silent_p.T552T|PYGL_uc001wyv.2_Silent_p.T260T	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	586					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTGTACATCGTGATCACAT	0.512		NaN											0	0	0	0.001786	0	32	95				
KCNH5	27133	broad.mit.edu	37	14	63447854	63447854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:63447854G>C	uc001xfx.2	-	6	729	c.678C>G	c.(676-678)TTC>TTG	p.F226L	KCNH5_uc001xfy.2_Missense_Mutation_p.F226L|KCNH5_uc001xfz.1_Missense_Mutation_p.F168L|KCNH5_uc001xga.2_Missense_Mutation_p.F168L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	226	Helical; Name=Segment S1; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGCGGTGTAGAAGGTAAGAA	0.388		NaN											0	0	0	0.007291	0	26	29				
SYNE2	23224	broad.mit.edu	37	14	64588835	64588835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:64588835C>G	uc001xgm.2	+	69	13494	c.13264C>G	c.(13264-13266)CAG>GAG	p.Q4422E	SYNE2_uc001xgl.2_Missense_Mutation_p.Q4422E|SYNE2_uc010apy.2_Missense_Mutation_p.Q807E|SYNE2_uc010apz.1_Missense_Mutation_p.Q314E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4422	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATACAACTCAGGAATCATC	0.328		NaN											0	0	0	0.006999	0	39	56				
ACTN1	87	broad.mit.edu	37	14	69387726	69387726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:69387726C>T	uc001xkl.2	-	3	647	c.337G>A	c.(337-339)GAA>AAA	p.E113K	ACTN1_uc010ttb.1_Missense_Mutation_p.E48K|ACTN1_uc001xkm.2_Missense_Mutation_p.E113K|ACTN1_uc001xkn.2_Missense_Mutation_p.E113K|ACTN1_uc001xko.1_Missense_Mutation_p.E48K|ACTN1_uc010ttd.1_Missense_Mutation_p.E92K	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	113	CH 1.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCTTACCTTCGGCTCCGATG	0.557		NaN											0	0	0	0.008361	0	28	99				
ANGEL1	23357	broad.mit.edu	37	14	77273020	77273020	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:77273020G>A	uc001xsv.2	-	5	1232	c.1119C>T	c.(1117-1119)CTC>CTT	p.L373L	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	373										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTTCTGGGACGAGTGGTTGCA	0.577		NaN											0	0	0	0.00361	0	62	72				
SERPINA4	5267	broad.mit.edu	37	14	95033521	95033521	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95033521G>C	uc001ydk.2	+	3	930	c.864G>C	c.(862-864)GAG>GAC	p.E288D	SERPINA4_uc010avd.2_Missense_Mutation_p.E325D|SERPINA4_uc001ydl.2_Missense_Mutation_p.E288D	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	288					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		AAATGAGGGAGATTGAAGAGG	0.468		NaN											0	0	0	0.003163	0	15	27				
CLMN	79789	broad.mit.edu	37	14	95669499	95669499	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr14:95669499G>A	uc001yef.2	-	9	2303	c.2187C>T	c.(2185-2187)TTC>TTT	p.F729F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	729						integral to membrane	actin binding				0				Epithelial(152;0.193)		CATAGTGTGGGAAATAGAAGA	0.522		NaN											0	0	0	0.006122	0	18	42				
CTDSPL2	51496	broad.mit.edu	37	15	44788618	44788618	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:44788618G>A	uc001ztr.2	+	6	1148	c.732G>A	c.(730-732)GCG>GCA	p.A244A	CTDSPL2_uc001zts.2_Silent_p.A244A|CTDSPL2_uc001ztt.2_Silent_p.A244A|CTDSPL2_uc010bdv.2_Silent_p.A172A	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	244							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CAGCCCACGCGGAGGCCACCT	0.363		NaN											0	0	0	0.003163	0	14	34				
ATP8B4	79895	broad.mit.edu	37	15	50152596	50152596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50152596G>C	uc001zxu.2	-	28	3516	c.3374C>G	c.(3373-3375)TCA>TGA	p.S1125*	ATP8B4_uc010ber.2_Nonsense_Mutation_p.S998*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.S935*|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Nonsense_Mutation_p.S128*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1125	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGACCTTCTTGAGCTTGACCT	0.522		NaN											0	0	0	0.001523	0	21	55				
ATP8B4	79895	broad.mit.edu	37	15	50189570	50189570	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50189570G>C	uc001zxu.2	-	23	2758	c.2616C>G	c.(2614-2616)TTC>TTG	p.F872L	ATP8B4_uc010ber.2_Missense_Mutation_p.F745L|ATP8B4_uc010ufd.1_Missense_Mutation_p.F682L|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.F170L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	872	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAGCATAAGAATTTGCACA	0.378		NaN											0	0	0	0.00361	0	68	140				
HDC	3067	broad.mit.edu	37	15	50535004	50535004	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:50535004G>A	uc001zxz.2	-	12	1548	c.1442C>T	c.(1441-1443)TCC>TTC	p.S481F	HDC_uc001zxy.2_Missense_Mutation_p.S224F|HDC_uc010uff.1_Missense_Mutation_p.S448F	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	481					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCTGGGTTGGGAAGTACAGTG	0.552		NaN											0	0	0	0.001368	0	13	31				
IGDCC3	9543	broad.mit.edu	37	15	65667594	65667594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:65667594C>A	uc002aos.2	-	2	502	c.250G>T	c.(250-252)GAG>TAG	p.E84*		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	84	Extracellular (Potential).|Ig-like C2-type 1.									ovary(3)	3						TGGGTACTCTCTGGCAGCTCT	0.602		NaN											1	0	1.04858e-14	0.006214	1.96073e-14	9	23				
KIF23	9493	broad.mit.edu	37	15	69728485	69728485	+	Missense_Mutation	SNP	G	G	A	rs149564859		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:69728485G>A	uc002asb.2	+	13	1398	c.1281G>A	c.(1279-1281)ATG>ATA	p.M427I	KIF23_uc002asc.2_Missense_Mutation_p.M427I|KIF23_uc010bii.2_Missense_Mutation_p.M317I|KIF23_uc010ukc.1_Missense_Mutation_p.M244I|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	427					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						AGCAAGTCATGAGATTTGCGG	0.368		NaN											0	0	0	0.00499	0	15	44				
THSD4	79875	broad.mit.edu	37	15	72039333	72039333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:72039333C>G	uc002atb.1	+	12	2272	c.2193C>G	c.(2191-2193)TGC>TGG	p.C731W	THSD4_uc002ate.2_Missense_Mutation_p.C371W	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	731	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCAGCACCTGCCAACTCAAGA	0.657		NaN											0	0	0	0.006214	0	7	12				
ISLR2	57611	broad.mit.edu	37	15	74425108	74425108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:74425108C>T	uc002axd.2	+	4	782	c.13C>T	c.(13-15)CGG>TGG	p.R5W	ISLR2_uc002axe.2_Missense_Mutation_p.R5W|ISLR2_uc010bjg.2_Missense_Mutation_p.R5W|ISLR2_uc010bjf.2_Missense_Mutation_p.R5W	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	5					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GTTCCCCCTTCGGGCCCTGTG	0.622		NaN											0	0	0	0.001855	0	12	24				
DNAJA4	55466	broad.mit.edu	37	15	78566699	78566699	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:78566699C>T	uc002bdj.1	+	4	696	c.579C>T	c.(577-579)CGC>CGT	p.R193R	DNAJA4_uc002bdi.2_Silent_p.R222R|DNAJA4_uc002bdk.2_Silent_p.R166R|DNAJA4_uc002bdl.2_Silent_p.R108R|DNAJA4_uc002bdm.1_5'Flank	NM_001130182	NP_001123654	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	193	CR-type.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			skin(1)	1						CCAAGGACCGCTGCGAGAGCT	0.597		NaN											0	0	0	0.006122	0	18	36				
FSD2	123722	broad.mit.edu	37	15	83447543	83447543	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:83447543C>T	uc002bjd.2	-	6	1253	c.1086G>A	c.(1084-1086)CTG>CTA	p.L362L	FSD2_uc010uol.1_Silent_p.L362L|FSD2_uc010uom.1_Silent_p.L362L	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	362										central_nervous_system(1)	1						TGGAGCCCATCAGCTGCTCCA	0.423		NaN											0	0	0	0.004482	0	9	17				
ACAN	176	broad.mit.edu	37	15	89402347	89402347	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr15:89402347G>A	uc010upo.1	+	12	6905	c.6531G>A	c.(6529-6531)GTG>GTA	p.V2177V	ACAN_uc010upp.1_Silent_p.V2177V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2177					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGATGTGGGGACAGAGG	0.607		NaN											0	0	0	0.007413	0	19	60				
PDIA2	64714	broad.mit.edu	37	16	335191	335191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:335191C>G	uc002cgn.1	+	10	1894	c.786C>G	c.(784-786)TTC>TTG	p.F262L	PDIA2_uc010bqt.1_Missense_Mutation_p.F107L|PDIA2_uc002cgo.1_Missense_Mutation_p.F262L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	262					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCACGGAGTTCAACAGCCAGG	0.662		NaN											0	0	0	0.001984	0	7	29				
CHTF18	63922	broad.mit.edu	37	16	844108	844108	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:844108C>T	uc002cke.3	+	15	1920	c.1857C>T	c.(1855-1857)GAC>GAT	p.D619D	CHTF18_uc002ckf.3_Silent_p.D647D|CHTF18_uc010brf.2_Silent_p.D201D|CHTF18_uc002ckg.3_Silent_p.D137D	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	619					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				TGCTGGGTGACGGGGACGCGG	0.662		NaN											0	0	0	0.001855	0	13	56				
TBC1D24	57465	broad.mit.edu	37	16	2546212	2546212	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546212C>T	uc002cql.2	+	2	203	c.63C>T	c.(61-63)GAC>GAT	p.D21D	TBC1D24_uc002cqk.2_Silent_p.D21D|TBC1D24_uc002cqm.2_Silent_p.D21D|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	21					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						CCATCCAGGACCTGGGGCCCA	0.637		NaN											0	0	0	0.008871	0	20	36				
TBC1D24	57465	broad.mit.edu	37	16	2546956	2546956	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546956C>G	uc002cql.2	+	2	947	c.807C>G	c.(805-807)ATC>ATG	p.I269M	TBC1D24_uc002cqk.2_Missense_Mutation_p.I269M|TBC1D24_uc002cqm.2_Missense_Mutation_p.I269M|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	269					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						AGCAGGACATCCGCACGTTCG	0.622		NaN											0	0	0	0.006122	0	14	54				
TBC1D24	57465	broad.mit.edu	37	16	2546965	2546965	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:2546965C>T	uc002cql.2	+	2	956	c.816C>T	c.(814-816)TTC>TTT	p.F272F	TBC1D24_uc002cqk.2_Silent_p.F272F|TBC1D24_uc002cqm.2_Silent_p.F272F|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	272					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						TCCGCACGTTCGTCAGAGACA	0.622		NaN											0	0	0	0.004007	0	14	50				
TNRC6A	27327	broad.mit.edu	37	16	24816470	24816470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:24816470C>T	uc002dmm.2	+	14	4234	c.4120C>T	c.(4120-4122)CAG>TAG	p.Q1374*	TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q1121*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q1072*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q1013*|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Nonsense_Mutation_p.Q41*	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1374					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ACTCTCCCCTCAGGTAAATAA	0.438		NaN											0	0	0	0.007291	0	27	76				
GTF3C1	2975	broad.mit.edu	37	16	27475748	27475748	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:27475748G>A	uc002dov.1	-	34	5805	c.5765C>T	c.(5764-5766)GCG>GTG	p.A1922V	GTF3C1_uc002dou.2_Missense_Mutation_p.A1922V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1922						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGCTGCTCCCGCTGCAGCGGT	0.642		NaN											0	0	0	0.00361	0	46	120				
SH2B1	25970	broad.mit.edu	37	16	28878727	28878727	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:28878727G>C	uc002dri.2	+	5	1454	c.1015G>C	c.(1015-1017)GAC>CAC	p.D339H	uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.D29H|SH2B1_uc002drj.2_Missense_Mutation_p.D339H|SH2B1_uc002drk.2_Missense_Mutation_p.D339H|SH2B1_uc002drl.2_Missense_Mutation_p.D339H|SH2B1_uc010vdd.1_Missense_Mutation_p.D3H|SH2B1_uc010vde.1_Missense_Mutation_p.D339H|SH2B1_uc002drm.2_Missense_Mutation_p.D339H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	339	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						GGAGATGCCTGACCGGGAGAA	0.547		NaN											0	0	0	0.00361	0	53	145				
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:29852959G>A	uc002dui.2	+	9	1318	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E412K|MVP_uc010vea.1_Missense_Mutation_p.E6K	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	412	MVP 8.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GACCCAGGACGAAGTCCTGTG	0.617		NaN											0	0	0	0.001368	0	12	20				
ZNF768	79724	broad.mit.edu	37	16	30535908	30535908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:30535908C>T	uc002dyk.3	-	2	1729	c.1553G>A	c.(1552-1554)TGC>TAC	p.C518Y	ZNF768_uc010vex.1_Missense_Mutation_p.C487Y|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.C487Y	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	518	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GGCCTTTCCGCAGTCATCGCA	0.692		NaN											0	0	0	0.001368	0	11	32				
OGFOD1	55239	broad.mit.edu	37	16	56509430	56509430	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:56509430G>A	uc002ejb.2	+	12	1521	c.1420G>A	c.(1420-1422)GAA>AAA	p.E474K	OGFOD1_uc002ejc.2_Missense_Mutation_p.E334K	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	474							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	CTGGGAGCCAGAATATGGCGG	0.383		NaN											0	0	0	0.00361	0	41	63				
SLC9A5	6553	broad.mit.edu	37	16	67298323	67298323	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67298323C>T	uc002esm.2	+	13	1974	c.1911C>T	c.(1909-1911)TTC>TTT	p.F637F	SLC9A5_uc010cee.2_Silent_p.F342F|SLC9A5_uc010vji.1_Silent_p.F141F	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	637					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGAGGTCTTCCAGCAGAACA	0.587		NaN											0	0	0	0.006214	0	8	20				
CTCF	10664	broad.mit.edu	37	16	67654676	67654676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67654676G>A	uc002etl.2	+	6	1453	c.1163G>A	c.(1162-1164)AGC>AAC	p.S388N	CTCF_uc010cek.2_Missense_Mutation_p.S60N	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	388	C2H2-type 5.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTTATGCCAGCAGGGACACA	0.443		NaN											0	0	0	0.001523	0	22	52				
ACD	65057	broad.mit.edu	37	16	67692069	67692069	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:67692069C>T	uc002etq.3	-	10	1621	c.1284G>A	c.(1282-1284)CAG>CAA	p.Q428Q	ACD_uc002etp.3_Silent_p.Q425Q|ACD_uc002etr.3_Silent_p.Q425Q|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	428	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGTGCAGCTCTGGAGTGGGG	0.642		NaN											0	0	0	0.00499	0	13	29				
SPIRE2	84501	broad.mit.edu	37	16	89895104	89895104	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr16:89895104G>A	uc002foz.1	+	1	198	c.146G>A	c.(145-147)CGC>CAC	p.R49H	SPIRE2_uc010civ.1_5'UTR|SPIRE2_uc010ciw.1_Missense_Mutation_p.R49H	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	49	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGGGCTGCCGCGGGCTGCGG	0.552		NaN											0	0	0	0.000602	0	4	8				
ITGAE	3682	broad.mit.edu	37	17	3661136	3661136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:3661136G>C	uc002fwo.3	-	9	983	c.884C>G	c.(883-885)TCA>TGA	p.S295*		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	295	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCCGTGGCTTGAGGTGAAGAT	0.522		NaN											0	0	0	0.002522	0	44	56				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.007291	0	25	23		Valid		
MAP2K3	5606	broad.mit.edu	37	17	21204234	21204234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:21204234G>A	uc002gys.2	+	5	593	c.328G>A	c.(328-330)GAC>AAC	p.D110N	MAP2K3_uc002gyt.2_Missense_Mutation_p.D81N|MAP2K3_uc002gyu.2_Missense_Mutation_p.D81N	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	110	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTGCTCATGGACCTGGACAT	0.587		NaN											0	0	0	0.008291	0	11	80				
CSF3	1440	broad.mit.edu	37	17	38173107	38173107	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38173107C>T	uc002htp.2	+	5	559	c.519C>T	c.(517-519)TTC>TTT	p.F173F	CSF3_uc002hto.2_Silent_p.F170F|CSF3_uc002htq.2_Silent_p.F166F|CSF3_uc010wep.1_Silent_p.F130F	NM_000759	NP_000750	P09919	CSF3_HUMAN	colony stimulating factor 3 isoform a precursor	173					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			ovary(1)	1	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCGGCCTTCGCCTCTGCTT	0.647		NaN											0	0	0	0.004656	0	25	45				
NR1D1	9572	broad.mit.edu	37	17	38253437	38253437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38253437G>C	uc002htz.1	-	2	877	c.251C>G	c.(250-252)TCA>TGA	p.S84*	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_5'Flank	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	84	Poly-Ser.				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					cgaggaagatgaggaagaagg	0.478		NaN											0	0	0	0.00245	0	15	38				
TNS4	84951	broad.mit.edu	37	17	38645050	38645050	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:38645050G>C	uc010cxb.2	-	3	775	c.611C>G	c.(610-612)TCT>TGT	p.S204C		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	204	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGTTCCCAGAGAAGATGAG	0.647		NaN											0	0	0	0.00278	0	22	44				
KRTAP9-8	83901	broad.mit.edu	37	17	39394660	39394660	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:39394660G>C	uc002hwh.3	+	1	391	c.357G>C	c.(355-357)CAG>CAC	p.Q119H	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	119	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCTAAACCAGAGCTGTGGCT	0.622		NaN											0	0	0	0.005524	0	30	66				
BRIP1	83990	broad.mit.edu	37	17	59763374	59763374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:59763374C>G	uc002izk.1	-	19	2869	c.2728G>C	c.(2728-2730)GAA>CAA	p.E910Q	BRIP1_uc002izl.1_Missense_Mutation_p.E291Q	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	910	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						GAGGTCACTTCAAGTGTAGAC	0.368		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00361	0	83	101				
MED13	9969	broad.mit.edu	37	17	60111268	60111268	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:60111268A>T	uc002izo.2	-	5	771	c.694T>A	c.(694-696)TTA>ATA	p.L232I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	232					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TCACCAATTAATTTTTTTGTA	0.383		NaN											0	0	0	0.00499	0	17	49				
ABCA9	10350	broad.mit.edu	37	17	66988371	66988371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:66988371G>A	uc002jhu.2	-	28	3804	c.3661C>T	c.(3661-3663)CGA>TGA	p.R1221*	ABCA9_uc010dez.2_Nonsense_Mutation_p.R1183*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1221					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCTAGGCATCGCAGAATGAAA	0.318		NaN											0	0	0	0.001168	0	6	20				
OTOP3	347741	broad.mit.edu	37	17	72937560	72937560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:72937560G>A	uc010wrr.1	+	2	146	c.146G>A	c.(145-147)CGA>CAA	p.R49Q	OTOP3_uc010wrq.1_Missense_Mutation_p.R31Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	49						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGGAGAACCGAGTGGATGTG	0.552		NaN											0	0	0	0.000602	0	4	14				
MIF4GD	57409	broad.mit.edu	37	17	73263627	73263627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73263627C>G	uc002jnr.2	-	5	562	c.433G>C	c.(433-435)GAG>CAG	p.E145Q	MIF4GD_uc002jno.2_Missense_Mutation_p.E186Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E179Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E186Q			A9UHW6	MI4GD_HUMAN	RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;	145	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			ovary(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCTCCTCCTCCTTGCTCAAA	0.612		NaN											0	0	0	0.008871	0	19	62				
TRIM65	201292	broad.mit.edu	37	17	73887139	73887139	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:73887139G>C	uc002jpx.2	-	6	1311	c.1275C>G	c.(1273-1275)CTC>CTG	p.L425L		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	425	B30.2/SPRY.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGACGCAGAGCCCCCAGG	0.687		NaN											0	0	0	0.004482	0	9	19				
TMC6	11322	broad.mit.edu	37	17	76113638	76113638	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:76113638C>T	uc002juj.1	-	16	2235	c.2109G>A	c.(2107-2109)GCG>GCA	p.A703A	TMC6_uc002jui.1_Silent_p.A282A|TMC6_uc010dhf.1_Silent_p.A536A|TMC6_uc002juk.2_Silent_p.A703A|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.A703A	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	703	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGGGCCTGCCGCCTCCAGGT	0.667		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.000602	0	4	9				
ACTG1	71	broad.mit.edu	37	17	79479123	79479123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:79479123C>T	uc002kaj.1	-	2	194	c.169G>A	c.(169-171)GAG>AAG	p.E57K	ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Missense_Mutation_p.E14K|ACTG1_uc002kak.1_Missense_Mutation_p.E57K|ACTG1_uc010wun.1_Missense_Mutation_p.E57K|ACTG1_uc002kal.1_Missense_Mutation_p.E57K|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	57					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCTGGGCCTCGTCGCCCACG	0.642		NaN											0	0	0	0.00361	0	50	27				
ZNF750	79755	broad.mit.edu	37	17	80788479	80788479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr17:80788479G>A	uc002kga.2	-	3	2022	c.1711C>T	c.(1711-1713)CGA>TGA	p.R571*	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	571						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCGTGGTCGACCGGGGAAG	0.622		NaN											0	0	0	0.008361	0	23	36				
LAMA3	3909	broad.mit.edu	37	18	21508633	21508633	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:21508633C>T	uc002kuq.2	+	64	8426	c.8340C>T	c.(8338-8340)TTC>TTT	p.F2780F	LAMA3_uc002kur.2_Silent_p.F2724F|LAMA3_uc002kus.3_Silent_p.F1171F|LAMA3_uc002kut.3_Silent_p.F1115F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2780	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGAGTTTCACTGATTTGG	0.423		NaN											0	0	0	0.00361	0	50	72				
CD226	10666	broad.mit.edu	37	18	67563226	67563226	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:67563226C>G	uc010dqo.2	-	3	885	c.438G>C	c.(436-438)AAG>AAC	p.K146N	CD226_uc002lkm.3_Missense_Mutation_p.K146N	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	146	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				GTGTGACATTCTTTCCAGGTT	0.458		NaN											0	0	0	0.001882	0	18	32				
ADNP2	22850	broad.mit.edu	37	18	77894028	77894028	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr18:77894028G>A	uc002lnw.2	+	4	1187	c.732G>A	c.(730-732)GAG>GAA	p.E244E		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	244					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGATTTGGAGAATAAGCTTA	0.423		NaN											0	0	0	0.001855	0	14	40				
APC2	10297	broad.mit.edu	37	19	1456894	1456894	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:1456894G>A	uc002lsr.1	+	9	1067	c.859G>A	c.(859-861)GAC>AAC	p.D287N	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.D287N|APC2_uc002lsu.1_Missense_Mutation_p.D286N	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	287					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACGCGCGACCAGGAGGA	0.677		NaN											0	0	0	0.000602	0	5	1				
C19orf36	113177	broad.mit.edu	37	19	2097472	2097472	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:2097472C>T	uc002luw.1	+	3	425	c.348C>T	c.(346-348)CTC>CTT	p.L116L	C19orf36_uc002lux.1_Silent_p.L116L|C19orf36_uc010xgw.1_Silent_p.L116L	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	hypothetical protein LOC113177 isoform 3	116						extracellular region					0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGCACCTCATCCAGAACG	0.607		NaN									OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004007	0	15	42				
UHRF1	29128	broad.mit.edu	37	19	4941939	4941939	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:4941939G>C	uc002mbo.2	+	7	1237	c.1069G>C	c.(1069-1071)GAG>CAG	p.E357Q	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E370Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	357	PHD-type.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAGCGAGGACGAGTGGTGAGT	0.612		NaN											0	0	0	0.004672	0	2	4				
HNRNPM	4670	broad.mit.edu	37	19	8533687	8533687	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:8533687C>T	uc010dwe.2	+	9	944	c.864C>T	c.(862-864)TTC>TTT	p.F288F	HNRNPM_uc010dwc.1_Silent_p.F288F|HNRNPM_uc010xke.1_Silent_p.F249F|HNRNPM_uc010dwd.2_Silent_p.F249F|HNRNPM_uc002mka.2_Silent_p.F168F	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	288					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						AAGGAGATTTCTTCCCTCCTG	0.323		NaN											0	0	0	0.00632	0	24	47				
COL5A3	50509	broad.mit.edu	37	19	10116382	10116382	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10116382C>G	uc002mmq.1	-	4	532	c.446G>C	c.(445-447)CGT>CCT	p.R149P		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	149	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GACGGCCACACGGTGCCACCT	0.627		NaN											0	0	0	0.001984	0	7	23				
KEAP1	9817	broad.mit.edu	37	19	10602630	10602630	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602630C>T	uc002moq.1	-	3	1104	c.948G>A	c.(946-948)GTG>GTA	p.V316V	KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGCAGGGCATCACCTGCGTGG	0.637		NaN											0	0	0	0.008291	0	10	36				
KEAP1	9817	broad.mit.edu	37	19	10602926	10602926	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:10602926C>G	uc002moq.1	-	3	808	c.652G>C	c.(652-654)GAG>CAG	p.E218Q	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E218Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	218	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E218Q(1)		lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGAACTCCTCTTGCTTGGCC	0.557		NaN											0	0	0	0.000602	0	4	16				
ZNF439	90594	broad.mit.edu	37	19	11978815	11978815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:11978815C>T	uc002mss.2	+	3	1059	c.931C>T	c.(931-933)CGT>TGT	p.R311C	ZNF439_uc002msr.2_Missense_Mutation_p.R175C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	311	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CATGTGTCCCCGTTATGTTCG	0.413		NaN											0	0	0	0.008871	0	17	66				
CRLF1	9244	broad.mit.edu	37	19	18705144	18705144	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:18705144C>T	uc010ebt.1	-	7	1319	c.1125G>A	c.(1123-1125)AAG>AAA	p.K375K		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	375					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						ACGCGTGCTTCTTGAGCCAGC	0.577		NaN											0	0	0	0.00308	0	8	22				
SF4	57794	broad.mit.edu	37	19	19407889	19407889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:19407889C>G	uc002nmh.2	-	8	1154	c.1152G>C	c.(1150-1152)AAG>AAC	p.K384N	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.K174N|SF4_uc002nmj.2_Missense_Mutation_p.K174N|SF4_uc010xqr.1_RNA	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	384	Nuclear localization signal (Potential).				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						CCCACCGGCTCTTCCGCTTCC	0.667		NaN											0	0	0	0.007413	0	17	27				
NPHS1	4868	broad.mit.edu	37	19	36322242	36322242	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:36322242C>T	uc002oby.2	-	26	3343	c.3343G>A	c.(3343-3345)GAG>AAG	p.E1115K	NPHS1_uc010eem.1_RNA	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1115	Cytoplasmic (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCTCCTCATATTCGTTC	0.627		NaN											0	0	0	0.002445	0	32	52				
CATSPERG	57828	broad.mit.edu	37	19	38851428	38851428	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:38851428G>A	uc002oih.3	+	16	1912	c.1825G>A	c.(1825-1827)GAG>AAG	p.E609K	CATSPERG_uc002oig.3_Missense_Mutation_p.E569K|CATSPERG_uc002oif.3_Missense_Mutation_p.E249K|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	609	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CGTGCCCGTGGAGCAGCTTCT	0.577		NaN											0	0	0	0.001168	0	4	11				
RYR1	6261	broad.mit.edu	37	19	39071143	39071143	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:39071143C>T	uc002oit.2	+	101	14775	c.14645C>T	c.(14644-14646)ACG>ATG	p.T4882M	RYR1_uc002oiu.2_Missense_Mutation_p.T4877M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4882	Helical; Name=M9; (Potential).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACATGATGACGGTGAGCCCC	0.313		NaN											0	0	0	0.002299	0	23	34				
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:39995950G>C	uc002olx.2	+	6	1010	c.952G>C	c.(952-954)GAT>CAT	p.D318H	DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	318	EGF-like 3.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACATGTGCAGATGGACCCTG	0.617		NaN											0	0	0	0.006999	0	35	61				
CYP2B6	1555	broad.mit.edu	37	19	41522600	41522600	+	Silent	SNP	C	C	A	rs138937514		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:41522600C>A	uc002opr.1	+	9	1351	c.1344C>A	c.(1342-1344)CTC>CTA	p.L448L	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.L248L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	448					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AATTGTTCCTCTTCTTCACCA	0.572		NaN											1	0	4.68919e-08	0.008291	8.46595e-08	11	15				
CEACAM8	1088	broad.mit.edu	37	19	43097693	43097693	+	Missense_Mutation	SNP	G	G	A	rs146875157	byFrequency	TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:43097693G>A	uc002oud.2	-	2	526	c.424C>T	c.(424-426)CCG>TCG	p.P142S	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	142	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				AATCACTCACGATGTACGCTG	0.498		NaN											0	0	0	0.002096	0	33	64				
RTN2	6253	broad.mit.edu	37	19	45998201	45998201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:45998201C>A	uc002pcb.2	-	3	370	c.142G>T	c.(142-144)GAG>TAG	p.E48*	RTN2_uc002pcc.2_Nonsense_Mutation_p.E48*|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	48						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCTCCTCCTCGTCCTCCTCT	0.617		NaN											1	0	4.72057e-08	0.003954	8.50167e-08	25	31				
GPR4	2828	broad.mit.edu	37	19	46094676	46094676	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46094676G>C	uc002pcm.2	-	2	1394	c.449C>G	c.(448-450)TCG>TGG	p.S150W	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	150	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGGGGCGCCGAGTTGGCGCC	0.667		NaN											0	0	0	0.00333	0	23	65				
IRF2BP1	26145	broad.mit.edu	37	19	46388452	46388452	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:46388452G>C	uc002pds.1	-	1	925	c.581C>G	c.(580-582)TCC>TGC	p.S194C		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCGAAATCGGAGCCGAAGAG	0.647		NaN											0	0	0	0.002096	0	29	85				
PRRG2	5639	broad.mit.edu	37	19	50086939	50086939	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:50086939G>A	uc002pon.3	+	3	391	c.226G>A	c.(226-228)GAG>AAG	p.E76K	PRRG2_uc010yaz.1_Missense_Mutation_p.E53K	NM_000951	NP_000942	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	76	Gla.|Extracellular (Potential).					extracellular region|integral to plasma membrane	calcium ion binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TTCCTGGGAAGAGGCCAGGGA	0.577		NaN											0	0	0	0.005443	0	26	60				
GPR32	2854	broad.mit.edu	37	19	51274256	51274256	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51274256C>G	uc010ycf.1	+	1	399	c.399C>G	c.(397-399)GTC>GTG	p.V133V		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	133	Helical; Name=3; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCCTCCTTGTCTTCATCTCTG	0.577		NaN											0	0	0	0.003214	0	42	106				
KLK6	5653	broad.mit.edu	37	19	51470546	51470546	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:51470546C>T	uc002pui.2	-	4	336	c.76G>A	c.(76-78)GGA>AGA	p.G26R	KLK6_uc010eoj.2_Missense_Mutation_p.G26R|KLK6_uc002puh.2_Missense_Mutation_p.G35R|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.G26R|KLK6_uc002pum.2_Intron	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	26	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TCGCAGGGTCCGCCATGCACC	0.572		NaN											0	0	0	0.003271	0	34	16				
SIGLEC6	946	broad.mit.edu	37	19	52023405	52023405	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:52023405G>T	uc002pwy.2	-	8	1455	c.1293C>A	c.(1291-1293)TTC>TTA	p.F431L	SIGLEC6_uc002pwz.2_Missense_Mutation_p.F415L|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Missense_Mutation_p.F368L|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	431	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCACCTTGTGGAAGTGTAGGA	0.502		NaN											1	0	9.84934e-19	0.002522	1.86071e-18	42	141				
ZNF175	7728	broad.mit.edu	37	19	52090205	52090205	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:52090205G>A	uc002pxb.2	+	5	999	c.621G>A	c.(619-621)CTG>CTA	p.L207L		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	207					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTTGAAGCTGAACCTAGAAG	0.443		NaN											0	0	0	0.008871	0	18	61				
LILRA2	11027	broad.mit.edu	37	19	55086014	55086014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55086014C>G	uc002qgg.3	+	3	406	c.317C>G	c.(316-318)TCA>TGA	p.S106*	LILRA2_uc010ern.2_Nonsense_Mutation_p.S106*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.S106*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.S106*|LILRA2_uc010yff.1_Nonsense_Mutation_p.S94*|LILRA2_uc010ero.2_Nonsense_Mutation_p.S94*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.S106*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	106	Extracellular (Potential).|Ig-like C2-type 1.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		AATCACTCATCAGAGTACAGT	0.592		NaN											0	0	0	0.00245	0	15	30				
PPP1R12C	54776	broad.mit.edu	37	19	55607503	55607503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr19:55607503G>A	uc002qix.2	-	8	1085	c.1069C>T	c.(1069-1071)CAG>TAG	p.Q357*	PPP1R12C_uc010yfs.1_Nonsense_Mutation_p.Q283*|PPP1R12C_uc002qiy.2_Nonsense_Mutation_p.Q357*	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	357						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GACAAGTCCTGGAGGGAAATC	0.672		NaN											0	0	0	0.008871	0	19	40				
ADAM17	6868	broad.mit.edu	37	2	9642368	9642368	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:9642368C>T	uc002qzu.2	-	13	1765	c.1582G>A	c.(1582-1584)GAG>AAG	p.E528K	ADAM17_uc010ewy.2_Missense_Mutation_p.E528K|ADAM17_uc010ewz.2_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	528	Disintegrin.|Extracellular (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGGGCAGTCTCAAACTGACAG	0.468		NaN											0	0	0	0.00361	0	57	123				
NOL10	79954	broad.mit.edu	37	2	10712233	10712233	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:10712233C>T	uc002raq.2	-	21	2156	c.2031G>A	c.(2029-2031)CTG>CTA	p.L677L	NOL10_uc010yje.1_Silent_p.L651L|NOL10_uc010yjf.1_Silent_p.L627L|NOL10_uc002rap.2_Silent_p.L627L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478		NaN											0	0	0	0.00361	0	88	203				
APOB	338	broad.mit.edu	37	2	21228217	21228217	+	Silent	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:21228217A>G	uc002red.2	-	26	11651	c.11523T>C	c.(11521-11523)AAT>AAC	p.N3841N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3841					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCTACTGCATTTAGATCCA	0.458		NaN											0	0	0	0.003271	0	32	71				
CIB4	130106	broad.mit.edu	37	2	26806690	26806690	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:26806690C>A	uc002rhm.2	-	5	434	c.405G>T	c.(403-405)ATG>ATT	p.M135I		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	135							calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCAGACATGTCATCAC	0.567		NaN											1	0	7.41945e-09	0.005443	1.34283e-08	22	69				
DPYSL5	56896	broad.mit.edu	37	2	27162914	27162914	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:27162914C>T	uc002rhu.3	+	9	1121	c.963C>T	c.(961-963)ATC>ATT	p.I321I	DPYSL5_uc002rhv.3_Silent_p.I321I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGAACATCGTGGCATCAG	0.527		NaN											0	0	0	0.007835	0	36	87				
SLC30A6	55676	broad.mit.edu	37	2	32419022	32419022	+	Missense_Mutation	SNP	C	C	G	rs148435831		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:32419022C>G	uc002roe.1	+	8	503	c.466C>G	c.(466-468)CGG>GGG	p.R156G	SLC30A6_uc002rof.1_Missense_Mutation_p.R196G|SLC30A6_uc010ymw.1_Missense_Mutation_p.R127G|SLC30A6_uc010ezr.1_Missense_Mutation_p.R156G|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.R82G|SLC30A6_uc002roh.1_5'UTR	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	156	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTTCTATTCGGAATAAACC	0.303		NaN											0	0	0	0.002836	0	29	87				
CEBPZ	10153	broad.mit.edu	37	2	37441016	37441016	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:37441016C>G	uc002rpz.2	-	10	2566	c.2536G>C	c.(2536-2538)GAG>CAG	p.E846Q		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	846					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CCAATCAGCTCTTCAAATTCT	0.318		NaN											0	0	0	0.000978	0	12	16				
EPAS1	2034	broad.mit.edu	37	2	46583348	46583348	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583348G>A	uc002ruv.2	+	3	764	c.276G>A	c.(274-276)CTG>CTA	p.L92L		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	92	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTGTACCTGAAAGCCTTGG	0.517		NaN											0	0	0	0.00278	0	22	57				
EPAS1	2034	broad.mit.edu	37	2	46583934	46583934	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:46583934G>C	uc002ruv.2	+	4	929	c.441G>C	c.(439-441)CTG>CTC	p.L147L		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	147	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGAACCTGAGTCTCAAAA	0.458		NaN											0	0	0	0.00499	0	16	33				
GPR75	10936	broad.mit.edu	37	2	54080793	54080793	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:54080793G>A	uc002rxo.3	-	2	1372	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	367	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCCTGACTTGAAAAATATAA	0.428		NaN											0	0	0	0.001855	0	14	57				
EHBP1	23301	broad.mit.edu	37	2	63175857	63175857	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:63175857G>A	uc002sby.2	+	14	2463	c.1981G>A	c.(1981-1983)GGA>AGA	p.G661R	EHBP1_uc010fcp.2_Missense_Mutation_p.G626R|EHBP1_uc002sbz.2_Missense_Mutation_p.G626R|EHBP1_uc002scb.2_Missense_Mutation_p.G626R	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	661						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GCAGAGCTCTGGAAGGACTTC	0.468		NaN							Hereditary_Prostate_Cancer				0	0	0	0.004007	0	17	24				
SFTPB	6439	broad.mit.edu	37	2	85890579	85890579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:85890579C>T	uc002sqh.2	-	8	898	c.892G>A	c.(892-894)GAG>AAG	p.E298K	SFTPB_uc002sqi.2_Missense_Mutation_p.E306K|SFTPB_uc002sqj.2_Missense_Mutation_p.E298K|SFTPB_uc010ysw.1_5'Flank	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	298	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						AGGTGGCACTCAGAGTCTCGC	0.612		NaN											0	0	0	0.004007	0	14	28				
AFF3	3899	broad.mit.edu	37	2	100170988	100170988	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:100170988C>T	uc002tag.2	-	23	3580	c.3344G>A	c.(3343-3345)GGA>GAA	p.G1115E	AFF3_uc002taf.2_Missense_Mutation_p.G1140E	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1115					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GGATGGGGTTCCAGTGCTCCT	0.652		NaN											0	0	0	0.000248	0	4	7				
CCDC138	165055	broad.mit.edu	37	2	109411023	109411023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:109411023C>G	uc002ten.1	+	5	482	c.422C>G	c.(421-423)TCG>TGG	p.S141W	CCDC138_uc002teo.1_Missense_Mutation_p.S141W|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	141											0						ACGACCTCATCGAGACCTCGG	0.383		NaN											0	0	0	0.004289	0	32	58				
MERTK	10461	broad.mit.edu	37	2	112705072	112705072	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:112705072A>G	uc002thk.1	+	4	807	c.685A>G	c.(685-687)ATT>GTT	p.I229V	MERTK_uc002thl.1_Missense_Mutation_p.I53V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	229	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						GCCCGTCAACATTTTCTGGGT	0.507		NaN											0	0	0	0.007413	0	19	56				
IWS1	55677	broad.mit.edu	37	2	128255777	128255777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:128255777C>A	uc002ton.2	-	6	1807	c.1504G>T	c.(1504-1506)GAA>TAA	p.E502*	IWS1_uc010yzl.1_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	502	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTGTGTTTCACCTTTTTCT	0.299		NaN											1	0	2.39556e-15	0.00278	4.50243e-15	23	61				
SCN9A	6335	broad.mit.edu	37	2	167168028	167168028	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:167168028G>A	uc010fpl.2	-	2	580	c.239C>T	c.(238-240)CCC>CTC	p.P80L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	80						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCATAGTAGGGGTCCAAGTC	0.448		NaN											0	0	0	0.005524	0	38	28				
TTN	7273	broad.mit.edu	37	2	179431057	179431057	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179431057C>A	uc010zfg.1	-	275	72322	c.72098G>T	c.(72097-72099)GGA>GTA	p.G24033V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17728V|TTN_uc010zfi.1_Missense_Mutation_p.G17661V|TTN_uc010zfj.1_Missense_Mutation_p.G17536V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24960							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAACAATTCCTTTTCTTAA	0.438		NaN											1	0	2.73381e-35	0.00361	5.25953e-35	55	127				
TTN	7273	broad.mit.edu	37	2	179622543	179622543	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:179622543G>T	uc010zfi.1	-	44	10490	c.10266C>A	c.(10264-10266)ATC>ATA	p.I3422I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	titin isoform novex-1	3506							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAGGCTGGATGAAGCTGG	0.458		NaN											1	0	1.21457e-23	0.00361	2.30643e-23	86	62				
DNAH7	56171	broad.mit.edu	37	2	196698996	196698996	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:196698996C>A	uc002utj.3	-	48	9135	c.9034G>T	c.(9034-9036)GTG>TTG	p.V3012L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3012	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGTTTAATCACATAAAGACTA	0.383		NaN											1	0	3.11337e-16	0.002836	5.86659e-16	35	14				
ABCA12	26154	broad.mit.edu	37	2	215875186	215875186	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:215875186A>G	uc002vew.2	-	18	2561	c.2341T>C	c.(2341-2343)TGC>CGC	p.C781R	ABCA12_uc002vev.2_Missense_Mutation_p.C463R|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	781					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGGAGAAGCAAAATGGTGCT	0.368		NaN											0	0	0	0.00245	0	14	11				
HDLBP	3069	broad.mit.edu	37	2	242186257	242186257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:242186257C>G	uc002waz.2	-	16	2088	c.1860G>C	c.(1858-1860)GAG>GAC	p.E620D	HDLBP_uc002wba.2_Missense_Mutation_p.E620D|HDLBP_uc002wbb.2_Missense_Mutation_p.E572D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	620	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AATTGCTATTCTCTGCTGGAA	0.488		NaN											0	0	0	0.00361	0	61	144				
TGM6	343641	broad.mit.edu	37	20	2377244	2377244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:2377244C>T	uc002wfy.1	+	4	578	c.517C>T	c.(517-519)CGA>TGA	p.R173*	TGM6_uc010gal.1_Nonsense_Mutation_p.R173*	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	173					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GAAGCACATACGAGCCCAGGG	0.612		NaN											0	0	0	0.001984	0	7	39				
CDS2	8760	broad.mit.edu	37	20	5170443	5170443	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:5170443G>C	uc002wls.2	+	12	1421	c.1164G>C	c.(1162-1164)CTG>CTC	p.L388L	CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Nonstop_Mutation_p.*340S|CDS2_uc010zqu.1_Silent_p.L268L|CDS2_uc002wlv.2_Silent_p.L290L|CDS2_uc010zqv.1_Silent_p.L158L	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	388					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						GCCAGTATCTGATGGCCACCT	0.468		NaN											0	0	0	0.003214	0	45	157				
HAO1	54363	broad.mit.edu	37	20	7866353	7866353	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:7866353C>G	uc002wmw.1	-	6	996	c.972G>C	c.(970-972)CAG>CAC	p.Q324H	HAO1_uc010gbu.2_Missense_Mutation_p.Q324H	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	324	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						GTCCAGTTACCTGGAAAGCTA	0.428		NaN											0	0	0	0.00361	0	77	98				
PAK7	57144	broad.mit.edu	37	20	9561234	9561234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:9561234G>C	uc002wnl.2	-	5	1093	c.548C>G	c.(547-549)TCT>TGT	p.S183C	PAK7_uc002wnk.2_Missense_Mutation_p.S183C|PAK7_uc002wnj.2_Missense_Mutation_p.S183C|PAK7_uc010gby.1_Missense_Mutation_p.S183C	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	183	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			CTTCACCTCAGAATAGTAGGC	0.458		NaN											0	0	0	0.00361	0	70	102				
FLRT3	23767	broad.mit.edu	37	20	14307438	14307438	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:14307438C>T	uc002wov.1	-	3	1182	c.715G>A	c.(715-717)GCT>ACT	p.A239T	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.A239T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	239	Extracellular (Potential).|LRR 8.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACTGGTGCAGCAGTCAGGGAA	0.438		NaN											0	0	0	0.007413	0	18	36				
PLAGL2	5326	broad.mit.edu	37	20	30784504	30784504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:30784504G>T	uc002wxn.2	-	3	1459	c.1242C>A	c.(1240-1242)TTC>TTA	p.F414L		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTAGGTGGGAGAAGTCCACAT	0.642		NaN											1	0	0.000151284	0.001855	0.0002634	14	16				
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:33345756T>C	uc002xav.2	-	8	3366	c.795A>G	c.(793-795)CAA>CAG	p.Q265Q	NCOA6_uc002xaw.2_Silent_p.Q265Q|NCOA6_uc010gew.1_Silent_p.Q222Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						gttgttgttgttgctgctgct	0.313		NaN											0	0	0	0.000602	0	4	63				
KCNQ2	3785	broad.mit.edu	37	20	62065242	62065242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:62065242G>C	uc002yey.1	-	8	1215	c.1038C>G	c.(1036-1038)TTC>TTG	p.F346L	KCNQ2_uc002yez.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfa.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfb.1_Missense_Mutation_p.F346L|KCNQ2_uc011aax.1_Missense_Mutation_p.F346L|KCNQ2_uc002yfc.1_Missense_Mutation_p.F346L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	346	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGTGGCGTAGAATCTCCAGG	0.692		NaN											0	0	0	0.006214	0	10	51				
IFNAR1	3454	broad.mit.edu	37	21	34721714	34721714	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:34721714C>G	uc002yrn.2	+	8	1155	c.1008C>G	c.(1006-1008)GTC>GTG	p.V336V	IFNAR1_uc011adv.1_Silent_p.V267V	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	336	Fibronectin type-III 3.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTCCTCCAGTCTTTAACATTA	0.343		NaN											0	0	0	0.000978	0	12	20				
ITSN1	6453	broad.mit.edu	37	21	35144562	35144562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:35144562G>C	uc002yta.1	+	12	1508	c.1240G>C	c.(1240-1242)GAA>CAA	p.E414Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E377Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E298Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E414Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E377Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E414Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E377Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E414Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E348Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	414	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						gaagcaactggaaaagcagcg	0.383		NaN											0	0	0	0.001168	0	6	1				
PFKL	5211	broad.mit.edu	37	21	45726580	45726580	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr21:45726580C>G	uc002zel.2	+	2	161	c.102C>G	c.(100-102)GTC>GTG	p.V34V	PFKL_uc002zek.2_Silent_p.V81V|PFKL_uc011afd.1_Silent_p.V81V	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	34					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		ACGCTGCTGTCCGGGCTGTGA	0.602		NaN											0	0	0	0.00308	0	7	8				
GNB1L	54584	broad.mit.edu	37	22	19799811	19799811	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:19799811G>A	uc002zqe.1	-	4	808	c.414C>T	c.(412-414)GAC>GAT	p.D138D	GNB1L_uc002zqd.1_Translation_Start_Site|GNB1L_uc002zqf.1_Silent_p.D138D	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CTCTCACCTCGTCGCTGCCCC	0.647		NaN											0	0	0	0.001368	0	10	15				
PPM1F	9647	broad.mit.edu	37	22	22280017	22280017	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:22280017C>T	uc002zvp.1	-	7	1024	c.910G>A	c.(910-912)GAA>AAA	p.E304K	PPM1F_uc011aik.1_Missense_Mutation_p.E200K|PPM1F_uc002zvq.2_Missense_Mutation_p.E304K	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	304					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCAATGCTTCAATGCGCGCC	0.622		NaN											0	0	0	0.00499	0	14	22				
GAS2L1	10634	broad.mit.edu	37	22	29708459	29708459	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:29708459G>A	uc003afa.1	+	7	2218	c.2019G>A	c.(2017-2019)CCG>CCA	p.P673P	GAS2L1_uc010gvm.1_Silent_p.P446P|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.P673P|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	673					cell cycle arrest	cytoplasm|cytoskeleton					0						CAGTCACCCCGAGGGCTGAGC	0.637		NaN											0	0	0	0.000602	0	5	18				
EIF4ENIF1	56478	broad.mit.edu	37	22	31838041	31838041	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:31838041G>T	uc003akz.1	-	17	2434	c.2270C>A	c.(2269-2271)TCC>TAC	p.S757Y	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.S412Y|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.S437Y|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.S757Y|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.S583Y|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.S247Y	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	757						nucleus	protein binding|protein transporter activity			ovary(1)	1						TGACAGTTTGGAATTTGTAGT	0.468		NaN											1	0	5.48756e-27	0.002852	1.05298e-26	42	113				
FOXRED2	80020	broad.mit.edu	37	22	36892254	36892254	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:36892254T>G	uc003apn.3	-	6	1492	c.1384A>C	c.(1384-1386)AAT>CAT	p.N462H	FOXRED2_uc003apm.3_Missense_Mutation_p.N14H|FOXRED2_uc003apo.3_Missense_Mutation_p.N462H|FOXRED2_uc003app.3_Missense_Mutation_p.N462H	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	462					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GCCGTGGAATTCCTGGGAGAA	0.617		NaN											0	0	0	0.00245	0	14	49				
EP300	2033	broad.mit.edu	37	22	41545045	41545045	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:41545045A>G	uc003azl.3	+	13	2640	c.2245A>G	c.(2245-2247)ATG>GTG	p.M749V		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	749					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTTTCAGCCTATGGGCTATGG	0.393		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.003163	0	15	34		Valid		
CCDC134	79879	broad.mit.edu	37	22	42209302	42209302	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr22:42209302C>T	uc003bbh.1	+	5	454	c.345C>T	c.(343-345)TTC>TTT	p.F115F	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134 precursor	115						extracellular region				ovary(2)	2						CGGCCTTCTTCGGCGATGTGG	0.592		NaN											0	0	0	0.002445	0	28	83				
CCR3	1232	broad.mit.edu	37	3	46306696	46306696	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46306696A>G	uc003cpg.1	+	4	590	c.47A>G	c.(46-48)TAC>TGC	p.Y16C	CCR3_uc003cpi.1_Missense_Mutation_p.Y16C|CCR3_uc003cpj.1_Missense_Mutation_p.Y16C|CCR3_uc003cpk.1_Missense_Mutation_p.Y37C|CCR3_uc010hjb.1_Missense_Mutation_p.Y34C|CCR3_uc003cpl.1_Missense_Mutation_p.Y49C	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	16	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCACATCCTACTATGATGAC	0.478		NaN											0	0	0	0.002299	0	19	21				
CCR5	1234	broad.mit.edu	37	3	46414985	46414985	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:46414985A>G	uc003cpo.3	+	3	714	c.592A>G	c.(592-594)ATA>GTA	p.I198V	CCR5_uc010hjd.2_Missense_Mutation_p.I198V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	198	Extracellular (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GACATTAAAGATAGTCATCTT	0.438		NaN											0	0	0	0.00361	0	110	127				
FLNB	2317	broad.mit.edu	37	3	58120443	58120443	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:58120443G>T	uc003djj.2	+	27	4780	c.4615G>T	c.(4615-4617)GAC>TAC	p.D1539Y	FLNB_uc010hne.2_Missense_Mutation_p.D1570Y|FLNB_uc003djk.2_Missense_Mutation_p.D1539Y|FLNB_uc010hnf.2_Missense_Mutation_p.D1539Y|FLNB_uc003djl.2_Missense_Mutation_p.D1370Y|FLNB_uc003djm.2_Missense_Mutation_p.D1370Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1539	Filamin 14.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTACCTGTGGACTTTGCAAT	0.507		NaN											1	0	4.17463e-26	0.00361	7.98956e-26	52	70				
IQCB1	9657	broad.mit.edu	37	3	121507259	121507259	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:121507259G>A	uc010hre.1	-	12	1365	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	IQCB1_uc003eek.2_Missense_Mutation_p.R251W|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	384					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TCCATTTCCCGATAGTGTTTC	0.388		NaN											0	0	0	0.00361	0	50	211				
SEMA5B	54437	broad.mit.edu	37	3	122646791	122646791	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:122646791G>C	uc003efz.1	-	8	1000	c.696C>G	c.(694-696)GAC>GAG	p.D232E	SEMA5B_uc011bju.1_Missense_Mutation_p.D174E|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.D232E|SEMA5B_uc010hro.1_Missense_Mutation_p.D174E|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	232	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGTGGCGTGGGTCATAGGGGC	0.612		NaN											0	0	0	0.001855	0	13	87				
DNAJC13	23317	broad.mit.edu	37	3	132185188	132185188	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:132185188G>C	uc003eor.2	+	19	2079	c.2014G>C	c.(2014-2016)GAG>CAG	p.E672Q	DNAJC13_uc010htq.1_Missense_Mutation_p.E672Q	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672							heat shock protein binding			ovary(1)|breast(1)	2						TCTCGTACCTGAGAAGGATGC	0.393		NaN											0	0	0	0.007413	0	17	63				
XRN1	54464	broad.mit.edu	37	3	142151723	142151723	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:142151723C>G	uc003eus.2	-	2	155	c.88G>C	c.(88-90)GAC>CAC	p.D30H	XRN1_uc003eut.2_Missense_Mutation_p.D30H|XRN1_uc003euu.2_Missense_Mutation_p.D30H|XRN1_uc003euw.2_Missense_Mutation_p.D30H|XRN1_uc011bnh.1_5'UTR	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	30					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TACAAGTTGTCAAATTCAGGA	0.308		NaN											0	0	0	0.006214	0	10	45				
GFM1	85476	broad.mit.edu	37	3	158363446	158363446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:158363446C>T	uc003fce.2	+	2	217	c.110C>T	c.(109-111)TCA>TTA	p.S37L	GFM1_uc003fcd.2_Missense_Mutation_p.S37L|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	37					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGATGGTCTTCATCAGGGGTG	0.368		NaN											0	0	0	0.002299	0	22	65				
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:170216488C>T	uc003fgz.2	-	4	1043	c.727G>A	c.(727-729)GAG>AAG	p.E243K	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	243						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517		NaN											0	0	0	0.003163	0	15	44				
PIK3CA	5290	broad.mit.edu	37	3	178928074	178928074	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:178928074G>T	uc003fjk.2	+	8	1509	c.1352G>T	c.(1351-1353)GGA>GTA	p.G451V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	451	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G451_L456>V(1)|p.P449_L455del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTACCTCATGGATTAGAAGAT	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	0	9.65021e-13	0.002096	1.78626e-12	30	102		Valid		
ECE2	9718	broad.mit.edu	37	3	184001650	184001650	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:184001650G>C	uc003fni.3	+	8	1286	c.1248G>C	c.(1246-1248)CAG>CAC	p.Q416H	ECE2_uc011brh.1_Missense_Mutation_p.Q269H|ECE2_uc003fnl.3_Missense_Mutation_p.Q344H|ECE2_uc003fnm.3_Missense_Mutation_p.Q298H|ECE2_uc003fnk.3_Missense_Mutation_p.Q269H|ECE2_uc011bri.1_Missense_Mutation_p.Q331H|ECE2_uc010hxv.2_Missense_Mutation_p.Q60H	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	416	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAGGGAGCAGATGCAGCAGG	0.597		NaN											0	0	0	0.001984	0	7	27				
C3orf59	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:192516720G>C	uc011bsp.1	-	2	1252	c.931C>G	c.(931-933)CAG>GAG	p.Q311E		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	311											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		TTGCAGGCCTGATAGGCCTGC	0.557		NaN											0	0	0	0.000978	0	11	44				
SMR3B	10879	broad.mit.edu	37	4	71255498	71255498	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:71255498G>C	uc011cas.1	+	3	254	c.173G>C	c.(172-174)AGA>ACA	p.R58T	SMR3B_uc003hfh.2_Missense_Mutation_p.R58T	NM_006685	NP_006676	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3	58	Pro-rich.					extracellular space		p.R58K(1)		skin(1)	1		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCT	0.602		NaN											0	0	0	0.003755	0	33	47				
PDLIM5	10611	broad.mit.edu	37	4	95561504	95561504	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:95561504A>C	uc003hti.2	+	9	1337	c.1186A>C	c.(1186-1188)ACC>CCC	p.T396P	PDLIM5_uc011cdx.1_Missense_Mutation_p.T293P|PDLIM5_uc003hth.2_Missense_Mutation_p.T287P|PDLIM5_uc003htj.2_Missense_Mutation_p.T71P|PDLIM5_uc003htk.2_Missense_Mutation_p.T425P|PDLIM5_uc011cdy.1_Missense_Mutation_p.T274P|PDLIM5_uc003htl.2_Missense_Mutation_p.T71P	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	396					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTGGGACAAACCCAGCCAAG	0.493		NaN											0	0	0	0.002445	0	33	42				
CENPE	1062	broad.mit.edu	37	4	104082504	104082504	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:104082504C>G	uc003hxb.1	-	19	2043	c.1953G>C	c.(1951-1953)CTG>CTC	p.L651L	CENPE_uc003hxc.1_Silent_p.L626L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	651	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTCTCCTTCAGCTCCAGAT	0.333		NaN											0	0	0	0.000248	0	4	43				
TET2	54790	broad.mit.edu	37	4	106157172	106157172	+	Silent	SNP	T	T	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:106157172T>G	uc003hxk.2	+	3	2459	c.2073T>G	c.(2071-2073)ACT>ACG	p.T691T	TET2_uc011cez.1_Silent_p.T712T|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.T691T|TET2_uc003hxi.1_Silent_p.T691T	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	691	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCCCAAACTGAAAAACTTA	0.418		NaN	Mis N|F		MDS								0	0	0	0.00245	0	13	69				
CAMK2D	817	broad.mit.edu	37	4	114434999	114434999	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:114434999C>G	uc003ibi.2	-	11	1749	c.890G>C	c.(889-891)AGA>ACA	p.R297T	CAMK2D_uc003ibj.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibk.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibo.3_Missense_Mutation_p.R297T|CAMK2D_uc003ibm.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibn.2_Missense_Mutation_p.R297T|CAMK2D_uc003ibl.2_Missense_Mutation_p.R297T	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	297	Calmodulin-binding (By similarity).				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TAGTTTTCTTCTAGCATTAAA	0.353		NaN											0	0	0	0.000248	0	4	33				
INPP4B	8821	broad.mit.edu	37	4	142949964	142949964	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:142949964C>G	uc003iix.3	-	27	3341	c.2746G>C	c.(2746-2748)GAG>CAG	p.E916Q	INPP4B_uc003iiw.3_Missense_Mutation_p.E916Q|INPP4B_uc011chm.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	916					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TAAGTCCCCTCTGGAGGTCTG	0.393		NaN											0	0	0	0.002522	0	40	17				
DCLK2	166614	broad.mit.edu	37	4	151153948	151153948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:151153948G>A	uc003ilm.3	+	10	1634	c.1534G>A	c.(1534-1536)GTG>ATG	p.V512M	DCLK2_uc003iln.3_Missense_Mutation_p.V511M|DCLK2_uc003ilo.3_Missense_Mutation_p.V529M|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	512	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CCTCAGCATCGTGCACAGAGA	0.458		NaN											0	0	0	0.00361	0	93	67				
DCHS2	54798	broad.mit.edu	37	4	155226351	155226351	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:155226351G>A	uc003inw.2	-	16	3928	c.3928C>T	c.(3928-3930)CCA>TCA	p.P1310S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1310	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAGCACCTGGCATGATTTCA	0.343		NaN											0	0	0	0.006122	0	17	15				
C4orf27	54969	broad.mit.edu	37	4	170674911	170674911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:170674911C>T	uc003isl.3	-	2	189	c.124G>A	c.(124-126)GAA>AAA	p.E42K		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	42						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TAATGATTTTCTACTTCTTTT	0.368		NaN											0	0	0	0.008871	0	21	12				
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:187525001G>C	uc003izf.2	-	19	10867	c.10679C>G	c.(10678-10680)TCA>TGA	p.S3560*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3560	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GACGCCACCTGAGTATTCTTC	0.473		NaN								HNSCC(5;0.00058)			0	0	0	0.008361	0	29	19				
ADAMTS16	170690	broad.mit.edu	37	5	5182156	5182156	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:5182156G>T	uc003jdl.2	+	4	640	c.502_splice	c.e4-1	p.S168_splice	ADAMTS16_uc003jdk.1_Splice_Site_p.S168_splice|ADAMTS16_uc003jdj.1_Splice_Site_p.S168_splice	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ATTTTTTCCAGTCAGGCATGA	0.448		NaN											1	0	1.01871e-10	0.008871	1.87147e-10	19	69				
DNAH5	1767	broad.mit.edu	37	5	13916475	13916475	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:13916475G>C	uc003jfd.2	-	9	1221	c.1179C>G	c.(1177-1179)ATC>ATG	p.I393M	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACAGAGATGTGATCTTCTCAG	0.303		NaN							Kartagener_syndrome				0	0	0	0.00308	0	7	36				
ANKH	56172	broad.mit.edu	37	5	14746024	14746024	+	Silent	SNP	G	G	A	rs111688928		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:14746024G>A	uc003jfm.3	-	7	1201	c.870C>T	c.(868-870)TAC>TAT	p.Y290Y	ANKH_uc003jfl.3_Silent_p.Y3Y	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	290	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						TCAACCAGCCGTATGGCATGT	0.522		NaN											0	0	0	0.008871	0	18	31				
C5orf22	55322	broad.mit.edu	37	5	31535946	31535946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:31535946G>C	uc003jhj.3	+	3	450	c.323G>C	c.(322-324)AGA>ACA	p.R108T	C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	108										ovary(2)	2						CAGCAGATCAGAGAGGGCAGA	0.383		NaN											0	0	0	0.001855	0	13	37				
UGT3A1	133688	broad.mit.edu	37	5	35954391	35954391	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:35954391G>A	uc003jjv.1	-	7	1642	c.1485C>T	c.(1483-1485)CTC>CTT	p.L495L	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	495	Helical; (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCAGAGTGAGCCCCAGCA	0.587		NaN											0	0	0	0.001168	0	5	27				
SLC1A3	6507	broad.mit.edu	37	5	36671303	36671303	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:36671303G>A	uc003jkj.3	+	4	968	c.492G>A	c.(490-492)GTG>GTA	p.V164V	SLC1A3_uc011cox.1_Silent_p.V57V|SLC1A3_uc010iuy.2_Silent_p.V164V	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	164	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTGTACGAGTGACAGCTGCAG	0.473		NaN											0	0	0	0.006214	0	9	23				
C9	735	broad.mit.edu	37	5	39306727	39306727	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:39306727T>C	uc003jlv.3	-	9	1497	c.1408A>G	c.(1408-1410)AGT>GGT	p.S470G		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	470	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACTTTTTGACTAATGAGAACA	0.363		NaN											0	0	0	0.007413	0	15	41				
SSBP2	23635	broad.mit.edu	37	5	80911377	80911377	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:80911377C>G	uc003kho.2	-	4	409	c.198_splice	c.e4-1	p.C66_splice	SSBP2_uc003khn.2_Splice_Site|SSBP2_uc003khp.2_Splice_Site_p.C66_splice|SSBP2_uc011ctp.1_Splice_Site_p.C66_splice|SSBP2_uc011ctq.1_Splice_Site_p.C66_splice|SSBP2_uc011ctr.1_Splice_Site_p.C66_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2						regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCAAAATACACTAAAAAAGTA	0.328		NaN											0	0	0	0.001882	0	23	25				
GPR98	84059	broad.mit.edu	37	5	90049511	90049511	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:90049511G>C	uc003kju.2	+	54	11338	c.11242G>C	c.(11242-11244)GAG>CAG	p.E3748Q	GPR98_uc003kjt.2_Missense_Mutation_p.E1454Q|GPR98_uc003kjv.2_Missense_Mutation_p.E1348Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3748	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGGGTTGAGGACTCATA	0.448		NaN											0	0	0	0.001984	0	7	32				
SLCO4C1	353189	broad.mit.edu	37	5	101596009	101596009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:101596009G>C	uc003knm.2	-	6	1323	c.1036C>G	c.(1036-1038)CAA>GAA	p.Q346E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	346	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCCAGCTTGAATTTCTGCT	0.209		NaN											0	0	0	0.00308	0	8	6				
FBXL17	64839	broad.mit.edu	37	5	107216802	107216802	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:107216802C>T	uc011cvc.1	-	8	2308	c.1901G>A	c.(1900-1902)GGA>GAA	p.G634E	FBXL17_uc003kon.3_Missense_Mutation_p.G236E	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	634											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAGGGTGGCTCCTTGGTCTGT	0.453		NaN											0	0	0	0.001786	0	30	103				
FER	2241	broad.mit.edu	37	5	108516519	108516519	+	Missense_Mutation	SNP	G	G	A	rs151332661		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:108516519G>A	uc003kop.1	+	18	2504	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	FER_uc011cvg.1_Missense_Mutation_p.R532H	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	707	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GGAATGTCTCGTCAAGAGGAT	0.423		NaN											0	0	0	0.002299	0	23	62				
IRF1	3659	broad.mit.edu	37	5	131819667	131819667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:131819667G>C	uc003kxa.2	-	10	1188	c.954C>G	c.(952-954)ATC>ATG	p.I318M	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.I318M	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	318					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAATGGCCTGGATGGAGGGCA	0.587		NaN											0	0	0	0.008291	0	10	25				
PCDHGA6	56109	broad.mit.edu	37	5	140755384	140755384	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140755384G>C	uc003ljy.1	+	1	1734	c.1734G>C	c.(1732-1734)GCG>GCC	p.A578A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A578A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	578	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657		NaN											0	0	0	0.00361	0	46	108				
PCDHGC5	56097	broad.mit.edu	37	5	140890566	140890566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:140890566G>C	uc003lla.1	+	4	2661	c.2661G>C	c.(2659-2661)TTG>TTC	p.L887F	PCDHGA1_uc003lji.1_Missense_Mutation_p.L874F|PCDHGA2_uc003ljk.1_Missense_Mutation_p.L875F|PCDHGA3_uc003ljm.1_Missense_Mutation_p.L875F|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L635F|PCDHGB1_uc003ljo.1_Missense_Mutation_p.L870F|PCDHGA4_uc003ljq.1_Missense_Mutation_p.L874F|PCDHGB2_uc003ljs.1_Missense_Mutation_p.L874F|PCDHGA5_uc003lju.1_Missense_Mutation_p.L874F|PCDHGB3_uc003ljw.1_Missense_Mutation_p.L872F|PCDHGA6_uc003ljy.1_Missense_Mutation_p.L875F|PCDHGA7_uc003lka.1_Missense_Mutation_p.L875F|PCDHGB4_uc003lkc.1_Missense_Mutation_p.L866F|PCDHGA8_uc003lkd.1_Missense_Mutation_p.L875F|PCDHGB5_uc003lkf.1_Missense_Mutation_p.L866F|PCDHGA9_uc003lkh.1_Missense_Mutation_p.L875F|PCDHGB6_uc003lkj.1_Missense_Mutation_p.L873F|PCDHGA10_uc003lkl.1_Missense_Mutation_p.L879F|PCDHGB7_uc003lkn.1_Missense_Mutation_p.L872F|PCDHGA11_uc003lkp.1_Missense_Mutation_p.L693F|PCDHGA11_uc003lkq.1_Missense_Mutation_p.L878F|PCDHGA12_uc003lkt.1_Missense_Mutation_p.L875F|PCDHGC3_uc003lkv.1_Missense_Mutation_p.L877F|PCDHGC3_uc003lkw.1_Missense_Mutation_p.L77F|PCDHGC4_uc003lky.1_Missense_Mutation_p.L881F	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	887	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGGATTGAGCGCCCGCT	0.612		NaN											0	0	0	0.00623	0	37	129				
AFAP1L1	134265	broad.mit.edu	37	5	148709287	148709287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr5:148709287G>T	uc003lqh.2	+	16	2000	c.1869G>T	c.(1867-1869)TTG>TTT	p.L623F	AFAP1L1_uc010jgy.2_Missense_Mutation_p.L623F|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L238F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	623	Potential.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTACTTGGTAGAAAAAG	0.498		NaN											1	0	7.03913e-09	0.001368	1.27715e-08	10	23				
JARID2	3720	broad.mit.edu	37	6	15496706	15496706	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:15496706C>T	uc003nbj.2	+	7	1494	c.1250C>T	c.(1249-1251)TCA>TTA	p.S417L	JARID2_uc011diu.1_Missense_Mutation_p.S281L|JARID2_uc011div.1_Missense_Mutation_p.S245L|JARID2_uc011diw.1_Missense_Mutation_p.S379L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	417					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACCCAAAGTCATGCACTAAG	0.652		NaN											0	0	0	0.00499	0	16	47				
LY6G6F	259215	broad.mit.edu	37	6	31685471	31685471	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:31685471C>G	uc003nwb.1	+	6	1039	c.1039C>G	c.(1039-1041)CTG>GTG	p.L347V	LY6G6D_uc003nwf.1_Missense_Mutation_p.L98V|LY6G6D_uc003nwg.1_Missense_Mutation_p.L77V	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	Error:Variant_position_missing_in_Q5SQ64_after_alignment						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GGACTGCTACCTGGGAGACCT	0.597		NaN											0	0	0	0.005524	0	39	109				
RPS18	6222	broad.mit.edu	37	6	33243622	33243622	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:33243622G>A	uc003odp.1	+	3	196	c.151G>A	c.(151-153)GAC>AAC	p.D51N	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	51					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						AGCAGACATTGACCTCACCAA	0.512		NaN											0	0	0	0.006999	0	36	82				
FTSJD2	23070	broad.mit.edu	37	6	37414099	37414099	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:37414099G>T	uc003ons.2	+	4	571	c.318G>T	c.(316-318)TTG>TTT	p.L106F	FTSJD2_uc010jwu.2_Missense_Mutation_p.L106F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	106	G-patch.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GTGAAGGATTGGGTAAATACA	0.433		NaN											1	0	0.000673444	0.008291	0.00116149	10	161				
UBE2J1	51465	broad.mit.edu	37	6	90039588	90039588	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90039588C>T	uc010kcb.2	-	9	940	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	UBE2J1_uc003pnc.2_Missense_Mutation_p.R256Q	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	256	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTGCTGGGCCCGGCGCTGTCG	0.517		NaN											0	0	0	0.003163	0	15	40				
MDN1	23195	broad.mit.edu	37	6	90394614	90394614	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:90394614G>A	uc003pnn.1	-	71	11926	c.11810C>T	c.(11809-11811)CCC>CTC	p.P3937L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3937					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTTCTAGGGGGGAACGAAG	0.388		NaN											0	0	0	0.00245	0	13	30				
C6orf167	253714	broad.mit.edu	37	6	97634396	97634396	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:97634396G>A	uc003ppb.2	-	15	2476	c.2210C>T	c.(2209-2211)TCA>TTA	p.S737L	C6orf167_uc011eaf.1_Missense_Mutation_p.S697L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	737					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CGCAAGTTGTGAGAAAGGCAC	0.403		NaN											0	0	0	0.006214	0	9	21				
FYN	2534	broad.mit.edu	37	6	112035566	112035566	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:112035566G>C	uc003pvj.2	-	4	668	c.328C>G	c.(328-330)CAA>GAA	p.Q110E	FYN_uc003pvi.2_Missense_Mutation_p.Q110E|FYN_uc003pvk.2_Missense_Mutation_p.Q110E|FYN_uc003pvh.2_Missense_Mutation_p.Q110E	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	110	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAATATTTGAAATTTTTCT	0.438		NaN											0	0	0	0.004482	0	6	33				
ROS1	6098	broad.mit.edu	37	6	117662723	117662723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:117662723G>C	uc003pxp.1	-	29	4941	c.4742C>G	c.(4741-4743)TCT>TGT	p.S1581C	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1581	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGCTTGTGAGATTCTCTCCA	0.423		NaN	T	GOPC|ROS1	glioblastoma|NSCLC								0	0	0	0.00308	0	8	31				
GRM1	2911	broad.mit.edu	37	6	146708053	146708053	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:146708053T>A	uc010khw.1	+	7	2100	c.1630T>A	c.(1630-1632)TGC>AGC	p.C544S	GRM1_uc010khv.1_Missense_Mutation_p.C544S|GRM1_uc003qll.2_Missense_Mutation_p.C544S|GRM1_uc011edz.1_Missense_Mutation_p.C544S|GRM1_uc011eea.1_Missense_Mutation_p.C544S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	544	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGTGAGCTGCTGCTGGATTTG	0.408		NaN											0	0	0	0.001984	0	6	21				
MTHFD1L	25902	broad.mit.edu	37	6	151203955	151203955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151203955C>T	uc003qob.2	+	5	743	c.475C>T	c.(475-477)CAG>TAG	p.Q159*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.Q106*|MTHFD1L_uc003qoa.1_Nonsense_Mutation_p.Q159*|MTHFD1L_uc010kil.1_RNA	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	159	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTTGCCCTTCAGATCTCTGA	0.308		NaN											0	0	0	0.000978	0	11	36				
ZBTB2	57621	broad.mit.edu	37	6	151687786	151687786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:151687786C>T	uc003qoh.2	-	3	550	c.415G>A	c.(415-417)GAT>AAT	p.D139N		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AACTGATGATCTGCAATCTGA	0.547		NaN											0	0	0	0.008361	0	32	67				
ZDHHC14	79683	broad.mit.edu	37	6	158074650	158074650	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:158074650G>A	uc003qqt.2	+	8	1556	c.1059G>A	c.(1057-1059)CAG>CAA	p.Q353Q	ZDHHC14_uc003qqs.2_Silent_p.Q353Q|ZDHHC14_uc010kjn.2_Silent_p.Q8Q	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	353						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCAGTCACAGAGTGACATGG	0.607		NaN											0	0	0	0.001368	0	12	30				
SYTL3	94120	broad.mit.edu	37	6	159166530	159166530	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166530G>C	uc003qrp.2	+	11	1118	c.874G>C	c.(874-876)GAC>CAC	p.D292H	SYTL3_uc011efp.1_Missense_Mutation_p.D292H|SYTL3_uc003qro.2_Missense_Mutation_p.D224H|SYTL3_uc003qrq.2_Missense_Mutation_p.D224H|SYTL3_uc003qrr.2_Missense_Mutation_p.D292H|SYTL3_uc003qrs.2_Missense_Mutation_p.D224H|SYTL3_uc011efq.1_Missense_Mutation_p.D18H	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	292					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AATTAGCATTGACAGCACCTG	0.323		NaN											0	0	0	0.00308	0	7	21				
SYTL3	94120	broad.mit.edu	37	6	159166673	159166673	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:159166673G>C	uc003qrp.2	+	11	1261	c.1017G>C	c.(1015-1017)AAG>AAC	p.K339N	SYTL3_uc011efp.1_Missense_Mutation_p.K339N|SYTL3_uc003qro.2_Missense_Mutation_p.K271N|SYTL3_uc003qrq.2_Missense_Mutation_p.K271N|SYTL3_uc003qrr.2_Missense_Mutation_p.K339N|SYTL3_uc003qrs.2_Missense_Mutation_p.K271N|SYTL3_uc011efq.1_Missense_Mutation_p.K65N	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	339	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAGAAGAAAAGAAGAAAAAGT	0.244		NaN											0	0	0	0.004482	0	7	31				
WTAP	9589	broad.mit.edu	37	6	160169273	160169273	+	Silent	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:160169273G>C	uc003qsl.2	+	6	546	c.324G>C	c.(322-324)CTG>CTC	p.L108L	WTAP_uc010kjx.2_Silent_p.L108L|WTAP_uc003qsk.2_Silent_p.L108L|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Silent_p.L108L	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	108					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTGCCCAACTGAGATCAACAA	0.418		NaN											0	0	0	0.00245	0	12	39				
MACC1	346389	broad.mit.edu	37	7	20199869	20199869	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:20199869C>T	uc003sus.3	-	5	425	c.116_splice	c.e5-1	p.E39_splice	MACC1_uc010kug.2_Splice_Site_p.E39_splice	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5						positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TCCTGGCATTCTTGTTATTTA	0.388		NaN											0	0	0	0.001368	0	13	29				
TRA2A	29896	broad.mit.edu	37	7	23571441	23571441	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:23571441C>T	uc003swi.2	-	1	217	c.3G>A	c.(1-3)ATG>ATA	p.M1I	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	1					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CCACATCACTCATGTCGACGA	0.582		NaN											0	0	0	0.001882	0	19	40				
NEUROD6	63974	broad.mit.edu	37	7	31378699	31378699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378699C>T	uc003tch.2	-	2	537	c.184G>A	c.(184-186)GAG>AAG	p.E62K		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	62	Poly-Glu.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						ctgtcttcctcctcttcttct	0.323		NaN											0	0	0	0.00361	0	54	83				
NEUROD6	63974	broad.mit.edu	37	7	31378712	31378712	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:31378712C>T	uc003tch.2	-	2	524	c.171G>A	c.(169-171)GAG>GAA	p.E57E		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	57	Poly-Glu.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						cttcttctttctcggtttctt	0.323		NaN											0	0	0	0.00361	0	58	80				
AMPH	273	broad.mit.edu	37	7	38431490	38431490	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:38431490G>A	uc003tgu.2	-	19	1806	c.1737C>T	c.(1735-1737)AGC>AGT	p.S579S	AMPH_uc003tgv.2_Silent_p.S537S|AMPH_uc003tgt.2_Silent_p.S464S|AMPH_uc003tgw.1_Silent_p.S602S|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	579					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CCGGTGTCTCGCTGGTGGGGC	0.612		NaN											0	0	0	0.001855	0	13	25				
ZNF479	90827	broad.mit.edu	37	7	57193755	57193755	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:57193755T>A	uc010kzo.2	-	4	503	c.232A>T	c.(232-234)AAG>TAG	p.K78*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TCATTTCTCTTTATATTCTGG	0.408		NaN											0	0	0	0.003755	0	29	90				
HIP1	3092	broad.mit.edu	37	7	75190635	75190635	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:75190635C>G	uc003uds.1	-	13	1230	c.1189G>C	c.(1189-1191)GAG>CAG	p.E397Q	HIP1_uc011kfz.1_Missense_Mutation_p.E274Q	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	397	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						AGTTATACCTCAGTCTTCATG	0.378		NaN	T	PDGFRB	CMML								0	0	0	0.006999	0	39	125				
PION	54103	broad.mit.edu	37	7	76982908	76982908	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:76982908G>T	uc003ugf.2	-	17	1468	c.1389C>A	c.(1387-1389)CTC>CTA	p.L463L	PION_uc003ugg.1_Silent_p.L248L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	463					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						ATTCCTGAATGAGGTCAAATG	0.373		NaN											1	0	6.72482e-11	0.003163	1.23852e-10	15	41				
PCLO	27445	broad.mit.edu	37	7	82390090	82390090	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:82390090C>G	uc003uhx.2	-	24	15442	c.15153G>C	c.(15151-15153)GTG>GTC	p.V5051V		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4974	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CATATATTTTCACATATAAAT	0.284		NaN											0	0	0	0.000248	0	4	9				
KIAA1324L	222223	broad.mit.edu	37	7	86548627	86548627	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:86548627C>T	uc011kha.1	-	11	1585	c.1400_splice	c.e11-1	p.G467_splice	KIAA1324L_uc003uif.1_Splice_Site_p.G227_splice|KIAA1324L_uc011kgz.1_Splice_Site_p.G353_splice|KIAA1324L_uc003uie.2_Splice_Site_p.G300_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1							integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					ACCTCCCAACCTAGAAGTAAT	0.333		NaN											0	0	0	0.000978	0	11	15				
C7orf63	79846	broad.mit.edu	37	7	89887468	89887468	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:89887468G>A	uc010lep.2	+	3	488	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.Q79Q|C7orf63_uc010leo.2_Silent_p.Q79Q	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	79							binding			ovary(1)	1						AGTGTTATCAGAATGGACTTG	0.244		NaN											0	0	0	0.008291	0	11	25				
CASD1	64921	broad.mit.edu	37	7	94175012	94175012	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:94175012C>T	uc003uni.3	+	12	1859	c.1632C>T	c.(1630-1632)AAC>AAT	p.N544N	CASD1_uc003unj.3_Silent_p.N544N	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	544						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284		NaN											0	0	0	0.006214	0	10	16				
LMTK2	22853	broad.mit.edu	37	7	97821646	97821646	+	Silent	SNP	C	C	T	rs141759251		TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:97821646C>T	uc003upd.1	+	11	2162	c.1869C>T	c.(1867-1869)CAC>CAT	p.H623H		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	623					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGGACTTACACGTGACCAGTG	0.468		NaN											0	0	0	0.00499	0	17	48				
ZNF655	79027	broad.mit.edu	37	7	99158255	99158255	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:99158255G>C	uc003urh.2	+	2	466	c.73G>C	c.(73-75)GAG>CAG	p.E25Q	FAM200A_uc003urb.2_5'Flank|ZNF655_uc003urf.2_RNA|ZNF655_uc003urc.2_Missense_Mutation_p.E25Q|ZNF655_uc010lfz.2_Missense_Mutation_p.E25Q|ZNF655_uc003ure.2_RNA|ZNF655_uc010lga.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgb.2_Missense_Mutation_p.E25Q|ZNF655_uc003uri.2_Missense_Mutation_p.E25Q|ZNF655_uc010lgc.2_Missense_Mutation_p.E25Q|ZNF655_uc003urj.2_Missense_Mutation_p.E25Q	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	25					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GACCCAGTCTGAGTGTCTGTC	0.562		NaN											0	0	0	0.00333	0	22	49				
CTTNBP2	83992	broad.mit.edu	37	7	117431626	117431626	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117431626G>A	uc003vjf.2	-	4	1716	c.1624C>T	c.(1624-1626)CCT>TCT	p.P542S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	542	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATAGGAGGAGGATTTCCTCTG	0.547		NaN											0	0	0	0.005524	0	38	104				
CTTNBP2	83992	broad.mit.edu	37	7	117450981	117450981	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:117450981G>C	uc003vjf.2	-	3	344	c.252C>G	c.(250-252)TTC>TTG	p.F84L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	84										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGAGTGCCAGGAACGGGTCAT	0.458		NaN											0	0	0	0.007413	0	19	57				
FLNC	2318	broad.mit.edu	37	7	128489029	128489029	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128489029C>T	uc003vnz.3	+	28	5129	c.4920C>T	c.(4918-4920)CTC>CTT	p.L1640L	FLNC_uc003voa.3_Silent_p.L1640L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1640	Filamin 15.			L -> T (in Ref. 9; CAA49689).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCAAGTGCCTCGTCACAGGTG	0.657		NaN											0	0	0	0.002096	0	28	54				
TNPO3	23534	broad.mit.edu	37	7	128614995	128614995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:128614995G>C	uc003vol.1	-	18	2574	c.2200C>G	c.(2200-2202)CAG>GAG	p.Q734E	TNPO3_uc010llx.1_Missense_Mutation_p.Q145E|TNPO3_uc003vom.1_Missense_Mutation_p.Q668E|TNPO3_uc010lly.1_Missense_Mutation_p.Q768E|TNPO3_uc010llz.1_Missense_Mutation_p.Q670E	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	734					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TCTAGGAGCTGAAAGGTGGGG	0.428		NaN											0	0	0	0.002299	0	21	50				
TSGA14	95681	broad.mit.edu	37	7	130038848	130038848	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:130038848C>G	uc003vpz.2	-	11	1053	c.1006G>C	c.(1006-1008)GAG>CAG	p.E336Q	TSGA14_uc003vpy.2_Missense_Mutation_p.E98Q|TSGA14_uc010lmf.2_Missense_Mutation_p.E133Q|TSGA14_uc003vqa.2_Missense_Mutation_p.E264Q|TSGA14_uc011kpg.1_Missense_Mutation_p.E248Q	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	336					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					ACCTTGGACTCTCTTCCGGAG	0.587		NaN											0	0	0	0.00361	0	53	128				
MLL3	58508	broad.mit.edu	37	7	151846037	151846037	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr7:151846037C>T	uc003wla.2	-	52	13194	c.12975G>A	c.(12973-12975)CTG>CTA	p.L4325L	MLL3_uc003wkz.2_Silent_p.L3443L|MLL3_uc003wkx.2_Silent_p.L483L|MLL3_uc003wky.2_Silent_p.L1889L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4325					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGTCACCTTCAGCTCATCTG	0.542		NaN	N		medulloblastoma								0	0	0	0.000602	0	5	25				
ST18	9705	broad.mit.edu	37	8	53084872	53084872	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:53084872C>T	uc003xqz.2	-	5	705	c.549G>A	c.(547-549)CAG>CAA	p.Q183Q	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.Q148Q|ST18_uc011lds.1_Silent_p.Q88Q|ST18_uc003xra.2_Silent_p.Q183Q|ST18_uc003xrb.2_Silent_p.Q183Q	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAGGGTGGCTGAGAATCAT	0.448		NaN											0	0	0	0.007291	0	31	74				
ARFGEF1	10565	broad.mit.edu	37	8	68112663	68112663	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:68112663G>A	uc003xxo.1	-	38	5743	c.5353C>T	c.(5353-5355)CTA>TTA	p.L1785L	ARFGEF1_uc003xxl.1_Silent_p.L1239L|ARFGEF1_uc003xxm.1_Silent_p.L188L|ARFGEF1_uc003xxn.1_Silent_p.L730L|ARFGEF1_uc003xxp.1_Silent_p.L47L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1785					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTTAGTTAGAAACAAAAGC	0.433		NaN											0	0	0	0.003163	0	15	47				
PREX2	80243	broad.mit.edu	37	8	69030845	69030845	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:69030845C>T	uc003xxv.1	+	27	3414	c.3387C>T	c.(3385-3387)TGC>TGT	p.C1129C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1129					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCAGCCAGTGCAGCTCGTATT	0.448		NaN											0	0	0	0.002445	0	31	71				
LRRCC1	85444	broad.mit.edu	37	8	86041588	86041588	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:86041588C>A	uc003ycw.2	+	10	1754	c.1600C>A	c.(1600-1602)CAA>AAA	p.Q534K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.Q235K|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q441K|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q514K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	534	Potential.				cell division|mitosis	centriole|nucleus					0						AATGGAGAGACAAAAAAGGCA	0.328		NaN											1	0	3.69857e-22	0.008361	7.00529e-22	28	84				
KCNQ3	3786	broad.mit.edu	37	8	133153445	133153445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:133153445A>C	uc003ytj.2	-	10	1621	c.1396T>G	c.(1396-1398)TTA>GTA	p.L466V	KCNQ3_uc010mdt.2_Missense_Mutation_p.L466V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	466					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTATTGTTTAAGCCAACAGGC	0.443		NaN											0	0	0	0.002836	0	30	78				
PTP4A3	11156	broad.mit.edu	37	8	142437047	142437047	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:142437047G>A	uc003ywg.1	+	3	541	c.207G>A	c.(205-207)CCG>CCA	p.P69P	PTP4A3_uc003ywh.1_Silent_p.P69P|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	69						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			AGGACTGGCCGTTTGACGATG	0.672		NaN											0	0	0	0.00361	0	61	100				
FAM83H	286077	broad.mit.edu	37	8	144808670	144808670	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144808670G>A	uc003yzk.2	-	5	3030	c.2961C>T	c.(2959-2961)TTC>TTT	p.F987F	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	987					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCACTGGGAAGCCACCCT	0.697		NaN											0	0	0	0.000602	0	4	20				
PLEC	5339	broad.mit.edu	37	8	144991585	144991585	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:144991585G>T	uc003zaf.1	-	32	12985	c.12815C>A	c.(12814-12816)TCC>TAC	p.S4272Y	PLEC_uc003zab.1_Missense_Mutation_p.S4135Y|PLEC_uc003zac.1_Missense_Mutation_p.S4139Y|PLEC_uc003zad.2_Missense_Mutation_p.S4135Y|PLEC_uc003zae.1_Missense_Mutation_p.S4103Y|PLEC_uc003zag.1_Missense_Mutation_p.S4113Y|PLEC_uc003zah.2_Missense_Mutation_p.S4121Y|PLEC_uc003zaj.2_Missense_Mutation_p.S4162Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4272	Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTTGCGCACGGAGGACTTGGA	0.617		NaN											1	0	1.15088e-07	0.004007	2.06763e-07	16	34				
PLEC	5339	broad.mit.edu	37	8	145002057	145002057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr8:145002057G>C	uc003zaf.1	-	26	3945	c.3775C>G	c.(3775-3777)CTC>GTC	p.L1259V	PLEC_uc003zab.1_Missense_Mutation_p.L1122V|PLEC_uc003zac.1_Missense_Mutation_p.L1126V|PLEC_uc003zad.2_Missense_Mutation_p.L1122V|PLEC_uc003zae.1_Missense_Mutation_p.L1090V|PLEC_uc003zag.1_Missense_Mutation_p.L1100V|PLEC_uc003zah.2_Missense_Mutation_p.L1108V|PLEC_uc003zaj.2_Missense_Mutation_p.L1149V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1259	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTCCGGGAGGGTGGCCGGC	0.692		NaN											0	0	0	0.000602	0	4	5				
DOCK8	81704	broad.mit.edu	37	9	328082	328082	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:328082C>T	uc003zgf.2	+	9	1067	c.955C>T	c.(955-957)CAC>TAC	p.H319Y	DOCK8_uc011lls.1_Missense_Mutation_p.H319Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgg.2_Missense_Mutation_p.H251Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	319					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGCGAGCTCACACGCCTTC	0.458		NaN											0	0	0	0.000978	0	12	71				
RRAGA	10670	broad.mit.edu	37	9	19050318	19050318	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:19050318G>C	uc003znj.2	+	1	947	c.661G>C	c.(661-663)GAG>CAG	p.E221Q		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	221					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity				0						CCAGTGCAAAGAGCAGCGCGA	0.478		NaN											0	0	0	0.006999	0	36	117				
RUSC2	9853	broad.mit.edu	37	9	35561306	35561306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:35561306C>T	uc003zww.2	+	12	4733	c.4478C>T	c.(4477-4479)TCT>TTT	p.S1493F	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.S1493F	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1493	SH3.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCCGACTCTGGCCTGGTG	0.647		NaN											0	0	0	0.007291	0	25	87				
RECK	8434	broad.mit.edu	37	9	36110040	36110040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:36110040G>A	uc003zyv.2	+	15	1938	c.1852G>A	c.(1852-1854)GAG>AAG	p.E618K	RECK_uc003zyw.2_Missense_Mutation_p.E490K|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	618						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTGCCTCAGTGAGCACAGTTC	0.478		NaN											0	0	0	0.002096	0	34	122				
CEP78	84131	broad.mit.edu	37	9	80881596	80881596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:80881596C>G	uc004akx.2	+	15	2312	c.2036C>G	c.(2035-2037)TCT>TGT	p.S679C	CEP78_uc004aky.3_Missense_Mutation_p.S696C|CEP78_uc010mpp.2_Missense_Mutation_p.S680C|CEP78_uc004akz.1_Missense_Mutation_p.S167C	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	679					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						AGCAGATCTTCTTCAGAGAAA	0.418		NaN											0	0	0	0.001984	0	5	19				
TLE4	7091	broad.mit.edu	37	9	82335206	82335206	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:82335206G>A	uc004ald.2	+	17	2760	c.1911G>A	c.(1909-1911)GTG>GTA	p.V637V	TLE4_uc004alc.2_Silent_p.V612V|TLE4_uc010mpr.2_Silent_p.V491V|TLE4_uc004ale.2_Silent_p.V249V|TLE4_uc011lsq.1_Silent_p.V580V|TLE4_uc010mps.2_Silent_p.V536V|TLE4_uc004alf.2_Silent_p.V551V	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						AGACCTTGGTGAGGTAGGTTA	0.458		NaN											0	0	0	0.000978	0	12	40				
BICD2	23299	broad.mit.edu	37	9	95482616	95482616	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482616G>C	uc004aso.1	-	4	1085	c.1028C>G	c.(1027-1029)TCT>TGT	p.S343C	BICD2_uc004asp.1_Missense_Mutation_p.S343C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	343	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CTGGATCTCAGAGATGTTGAG	0.632		NaN											0	0	0	0.007291	0	29	38				
BICD2	23299	broad.mit.edu	37	9	95482948	95482948	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:95482948G>T	uc004aso.1	-	4	753	c.696C>A	c.(694-696)CTC>CTA	p.L232L	BICD2_uc004asp.1_Silent_p.L232L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	232	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						AGATCTCCTTGAGGCGGATGG	0.587		NaN											1	0	1.06522e-23	0.003214	2.02807e-23	44	63				
GABBR2	9568	broad.mit.edu	37	9	101125057	101125057	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:101125057G>C	uc004ays.2	-	13	1989	c.1833C>G	c.(1831-1833)ATC>ATG	p.I611M		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	611	Helical; Name=4; (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGCAGATCAGGATACACAGGT	0.592		NaN											0	0	0	0.00308	0	8	34				
TEX10	54881	broad.mit.edu	37	9	103092428	103092428	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:103092428G>C	uc004bas.2	-	6	1489	c.1274C>G	c.(1273-1275)TCC>TGC	p.S425C	TEX10_uc011lvf.1_Missense_Mutation_p.S264C|TEX10_uc011lvg.1_Missense_Mutation_p.S428C|TEX10_uc011lvh.1_Missense_Mutation_p.S360C	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	425						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGTTATTGGAGAGAACTGT	0.373		NaN											0	0	0	0.002522	0	38	95				
OR13C3	138803	broad.mit.edu	37	9	107298443	107298443	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:107298443C>A	uc004bcb.1	-	1	652	c.652G>T	c.(652-654)GCC>TCC	p.A218S		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						TCAGCACAGGCCAGCTTGAGG	0.383		NaN											1	0	2.44723e-14	0.004656	4.56443e-14	26	76				
SNX30	401548	broad.mit.edu	37	9	115567234	115567234	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115567234G>C	uc004bgj.3	+	2	483	c.335G>C	c.(334-336)AGG>ACG	p.R112T		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						ATCACCTATAGGATCACCACC	0.458		NaN											0	0	0	0.004878	0	31	84				
SLC46A2	57864	broad.mit.edu	37	9	115652749	115652749	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:115652749C>G	uc004bgk.2	-	1	445	c.213G>C	c.(211-213)CAG>CAC	p.Q71H		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	71	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						AGATGGCTCTCTGCTGTTGGT	0.632		NaN											0	0	0	0.00361	0	79	99				
AKNA	80709	broad.mit.edu	37	9	117122258	117122258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:117122258C>G	uc004biq.3	-	9	2344	c.2209G>C	c.(2209-2211)GAG>CAG	p.E737Q	AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Missense_Mutation_p.E197Q|AKNA_uc004bip.3_Missense_Mutation_p.E656Q|AKNA_uc004bir.3_Missense_Mutation_p.E737Q|AKNA_uc004bis.3_Missense_Mutation_p.E737Q|AKNA_uc010mve.2_Missense_Mutation_p.E618Q|AKNA_uc004biu.1_Missense_Mutation_p.E478Q|AKNA_uc004biv.1_Missense_Mutation_p.E737Q	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						GGCCTGTCCTCCACCTCACTG	0.622		NaN											0	0	0	0.000978	0	12	53				
MEGF9	1955	broad.mit.edu	37	9	123476225	123476225	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:123476225G>C	uc004bkj.1	-	1	388	c.388C>G	c.(388-390)CAG>GAG	p.Q130E	MEGF9_uc011lyb.1_Missense_Mutation_p.Q130E|MEGF9_uc004bkk.3_Missense_Mutation_p.Q130E	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	138	Extracellular (Potential).|Pro-rich.					integral to membrane	calcium ion binding				0						GTCGGCGCCTGAGAGGTGGTC	0.721		NaN											0	0	0	0.008871	0	18	30				
CRB2	286204	broad.mit.edu	37	9	126128232	126128232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:126128232C>T	uc004bnx.1	+	3	547	c.455C>T	c.(454-456)TCA>TTA	p.S152L	CRB2_uc004bnw.1_Missense_Mutation_p.S152L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	152	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GAGTGCGCCTCAGCGCCCTGC	0.706		NaN											0	0	0	0.004007	0	11	22				
DNM1	1759	broad.mit.edu	37	9	130984548	130984548	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:130984548G>C	uc011mau.1	+	7	1009	c.922G>C	c.(922-924)GAG>CAG	p.E308Q	DNM1_uc010mxr.2_Missense_Mutation_p.E308Q|DNM1_uc011mat.1_Missense_Mutation_p.E308Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	308					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						ACTGTCCATTGAGAAGGAGGT	0.582		NaN											0	0	0	0.001523	0	19	66				
SLC27A4	10999	broad.mit.edu	37	9	131115460	131115460	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131115460G>C	uc004but.2	+	8	1428	c.1144G>C	c.(1144-1146)GAG>CAG	p.E382Q	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	382					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						CCAGGTGGCTGAGTTCTACGG	0.622		NaN											0	0	0	0.003163	0	15	42				
ZER1	10444	broad.mit.edu	37	9	131504959	131504959	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:131504959G>A	uc004bwa.1	-	9	1858	c.1425C>T	c.(1423-1425)TAC>TAT	p.Y475Y		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	475					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGACCCGGCGGTACTGGAATT	0.632		NaN											0	0	0	0.001855	0	12	18				
ARSD	414	broad.mit.edu	37	X	2836237	2836237	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:2836237G>A	uc004cqy.2	-	5	547	c.471C>T	c.(469-471)TCC>TCT	p.S157S	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.S157S	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	157						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATCCCCGCGGGATGCACAAT	0.557		NaN											0	0	0	0.004672	0	3	6				
APOO	79135	broad.mit.edu	37	X	23898967	23898967	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:23898967C>T	uc004dax.2	-	2	343	c.112G>A	c.(112-114)GAT>AAT	p.D38N	APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	38					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0						GTTACCTCATCAACCTTCACG	0.413		NaN											0	0	0	0.006214	0	10	35				
DCAF8L2	347442	broad.mit.edu	37	X	27766328	27766328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:27766328C>G	uc011mjy.1	+	1	1403	c.1316C>G	c.(1315-1317)GCC>GGC	p.A439G		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2						GAGCTGCTAGCCAGCTACAAT	0.443		NaN											0	0	0	0.001882	0	21	37				
FAM47A	158724	broad.mit.edu	37	X	34149301	34149301	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34149301C>T	uc004ddg.2	-	1	1128	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	365										ovary(4)|central_nervous_system(1)	5						TCTTGGGAGGCGCTAGGCGGA	0.632		NaN											0	0	0	0.00245	0	15	26				
FAM47B	170062	broad.mit.edu	37	X	34962542	34962542	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:34962542C>T	uc004ddi.1	+	1	1612	c.1594C>T	c.(1594-1596)CGC>TGC	p.R532C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	532										ovary(3)|breast(1)	4						GGACAGGAGACGCCGGGCGGC	0.498		NaN											0	0	0	0.002445	0	32	74				
CXorf22	170063	broad.mit.edu	37	X	35974113	35974113	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:35974113G>A	uc004ddj.2	+	8	1269	c.1210G>A	c.(1210-1212)GGC>AGC	p.G404S	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	404										large_intestine(1)|lung(1)|ovary(1)	3						AGCACTGACAGGCACAGGACT	0.363		NaN											0	0	0	0.00333	0	21	69				
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:50339780C>G	uc004dpe.2	-	9	4423	c.4397G>C	c.(4396-4398)CGA>CCA	p.R1466P	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1466	Potential.|ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					CTCCAGCTCTCGCTGTTCAAT	0.502		NaN											0	0	0	0.005443	0	26	33				
SPANXN5	494197	broad.mit.edu	37	X	52825556	52825556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:52825556G>C	uc004drc.1	-	2	191	c.191C>G	c.(190-192)TCA>TGA	p.S64*		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	64											0	Ovarian(276;0.236)					CAGTTGATTTGAATGTATTTT	0.423		NaN											0	0	0	0.00623	0	37	95				
ITIH5L	347365	broad.mit.edu	37	X	54777522	54777522	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:54777522C>A	uc004dtj.2	-	12	3674	c.3644G>T	c.(3643-3645)AGG>ATG	p.R1215M		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1215					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						ACTGGGATGCCTGTAGCGGTG	0.627		NaN											1	0	3.59834e-05	0.001168	6.32513e-05	6	12				
FAM123B	139285	broad.mit.edu	37	X	63412575	63412575	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63412575C>T	uc004dvo.2	-	2	865	c.592G>A	c.(592-594)GAG>AAG	p.E198K		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	198					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTGACCCTCTCAGGCCCCTTG	0.577		NaN											0	0	0	0.006122	0	18	71				
MTMR8	55613	broad.mit.edu	37	X	63488786	63488786	+	Silent	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:63488786C>G	uc004dvs.2	-	14	1814	c.1746G>C	c.(1744-1746)CTG>CTC	p.L582L	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	582						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CATTCTCCATCAGGGTATTCA	0.483		NaN											0	0	0	0.00278	0	22	28				
ZMYM3	9203	broad.mit.edu	37	X	70471043	70471043	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471043C>G	uc004dzh.1	-	4	850	c.763G>C	c.(763-765)GAT>CAT	p.D255H	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D255H|ZMYM3_uc004dzj.1_Missense_Mutation_p.D255H|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzl.3_Missense_Mutation_p.D255H|ZMYM3_uc004dzm.3_Missense_Mutation_p.D255H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	255					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TCAGTGGAATCTACAACCTCA	0.537		NaN											0	0	0	0.006122	0	14	61				
ZMYM3	9203	broad.mit.edu	37	X	70471052	70471052	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70471052C>T	uc004dzh.1	-	4	841	c.754G>A	c.(754-756)GAG>AAG	p.E252K	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E252K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E252K|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E252K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E252K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	252					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TCTACAACCTCAGGTTTTGGA	0.532		NaN											0	0	0	0.008871	0	14	59				
OGT	8473	broad.mit.edu	37	X	70787373	70787373	+	Silent	SNP	T	T	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:70787373T>C	uc004eaa.1	+	20	2830	c.2613T>C	c.(2611-2613)AGT>AGC	p.S871S	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.S861S|OGT_uc004eac.2_Silent_p.S732S|OGT_uc004ead.2_Silent_p.S490S	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	871					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TTCCCAATAGTGTACTCTGGC	0.398		NaN											0	0	0	0.001523	0	19	43				
P2RY10	27334	broad.mit.edu	37	X	78216602	78216602	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:78216602G>T	uc004ede.2	+	4	954	c.585G>T	c.(583-585)TTG>TTT	p.L195F	P2RY10_uc004edf.2_Missense_Mutation_p.L195F	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	195	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CAGTTGCGTTGGTCGGGATGA	0.458		NaN											1	0	1.64113e-05	0.001523	2.89868e-05	22	61				
CPXCR1	53336	broad.mit.edu	37	X	88008581	88008581	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:88008581G>T	uc004efd.3	+	3	425	c.166G>T	c.(166-168)GCA>TCA	p.A56S	CPXCR1_uc004efc.3_Missense_Mutation_p.A56S	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	56						intracellular	zinc ion binding			ovary(3)	3						GCCAGGCACAGCAACCTCCCA	0.453		NaN											1	0	8.12818e-05	0.001984	0.000142535	7	28				
PCDH11X	27328	broad.mit.edu	37	X	91873589	91873589	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:91873589C>T	uc004efk.1	+	7	4539	c.3694C>T	c.(3694-3696)CAC>TAC	p.H1232Y	PCDH11X_uc004efl.1_Missense_Mutation_p.H1222Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1195Y|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1224Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1214Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1232	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TACTGCACTTCACCACAGCCC	0.587		NaN											0	0	0	0.00623	0	39	94				
PCDH19	57526	broad.mit.edu	37	X	99663576	99663576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:99663576G>A	uc010nmz.2	-	1	1696	c.20C>T	c.(19-21)CCG>CTG	p.P7L	PCDH19_uc004efw.3_Missense_Mutation_p.P7L|PCDH19_uc004efx.3_Missense_Mutation_p.P7L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	7					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CAGCAGCACCGGCAGCAGGAG	0.682		NaN											0	0	0	0.000248	0	3	5				
TCEAL2	140597	broad.mit.edu	37	X	101382355	101382355	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:101382355A>G	uc004eip.2	+	3	772	c.553A>G	c.(553-555)AAA>GAA	p.K185E		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GAGAAAAAGCAAACAGAAATT	0.453		NaN											0	0	0	0.00361	0	49	143				
IRS4	8471	broad.mit.edu	37	X	107975913	107975913	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:107975913C>T	uc004eoc.2	-	1	3695	c.3662G>A	c.(3661-3663)CGG>CAG	p.R1221Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1221						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TCTTGGCACCCGGCGACTGCG	0.592		NaN											0	0	0	0.00361	0	75	185				
NKAP	79576	broad.mit.edu	37	X	119077327	119077327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:119077327C>G	uc004esh.2	-	1	409	c.242G>C	c.(241-243)AGA>ACA	p.R81T		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	81	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						GGGCCGCTCTCTAGAACGCGA	0.662		NaN											0	0	0	0.004007	0	15	25				
GLUD2	2747	broad.mit.edu	37	X	120182792	120182792	+	Silent	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:120182792G>T	uc004eto.2	+	1	1331	c.1254G>T	c.(1252-1254)CTG>CTT	p.L418L		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	418					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGATCTTCCTGGAGAGAAACA	0.438		NaN											1	0	7.89702e-26	0.00361	1.50743e-25	57	187				
DCAF12L1	139170	broad.mit.edu	37	X	125685766	125685766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:125685766C>A	uc004eul.2	-	1	1077	c.826G>T	c.(826-828)GAA>TAA	p.E276*		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276	WD 3.									skin(3)|ovary(1)	4						GCTCCCAGTTCCTGGTTCTTG	0.637		NaN											1	0	0.00010058	0.001368	0.000175955	11	30				
BCORL1	63035	broad.mit.edu	37	X	129148662	129148662	+	Silent	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129148662G>A	uc004evb.1	+	4	2028	c.1914G>A	c.(1912-1914)CAG>CAA	p.Q638Q	BCORL1_uc010nrd.1_Silent_p.Q540Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	638	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGCCGAACCAGCGCAAGACAC	0.612		NaN											0	0	0	0.00632	0	28	65				
ZNF280C	55609	broad.mit.edu	37	X	129370577	129370577	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:129370577G>C	uc004evm.2	-	7	684	c.530C>G	c.(529-531)TCT>TGT	p.S177C	ZNF280C_uc010nrf.1_Missense_Mutation_p.S177C	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	177	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						TTTAGAAGTAGAAGGATGTTT	0.318		NaN											0	0	0	0.007413	0	19	52				
BRS3	680	broad.mit.edu	37	X	135572431	135572431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:135572431C>G	uc004ezv.1	+	2	723	c.574C>G	c.(574-576)CGA>GGA	p.R192G		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	192	Extracellular (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ATACACTTTTCGAGATCCCAA	0.383		NaN											0	0	0	0.003755	0	37	54				
GPR50	9248	broad.mit.edu	37	X	150349467	150349467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349467C>G	uc010ntg.1	+	2	1547	c.1412C>G	c.(1411-1413)TCC>TGC	p.S471C		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	471	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCTTCCAGCAACCCC	0.552		NaN											0	0	0	0.00361	0	138	288				
GPR50	9248	broad.mit.edu	37	X	150349531	150349531	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:150349531C>A	uc010ntg.1	+	2	1611	c.1476C>A	c.(1474-1476)TTC>TTA	p.F492L		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	492	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTGCCTTCAGTGCTGCCA	0.572		NaN											1	0	4.92795e-40	0.00361	9.50575e-40	87	196				
ATP2B3	492	broad.mit.edu	37	X	152818716	152818716	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:152818716G>T	uc004fht.1	+	11	2173	c.2047G>T	c.(2047-2049)GTG>TTG	p.V683L	ATP2B3_uc004fhs.1_Missense_Mutation_p.V683L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	683	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGACCCTGTGCGGCCCGA	0.632		NaN											1	0	0.000219431	0.00245	0.000381145	13	27				
SRPK3	26576	broad.mit.edu	37	X	153048313	153048313	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153048313G>A	uc004fil.2	+	6	594	c.562G>A	c.(562-564)GTG>ATG	p.V188M	SRPK3_uc004fik.2_Missense_Mutation_p.V254M|SRPK3_uc010nul.2_Missense_Mutation_p.V146M|SRPK3_uc004fin.2_Missense_Mutation_p.V188M|SRPK3_uc004fim.2_Missense_Mutation_p.V188M	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	188	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCCCTGCGTGAAGAGCAT	0.642		NaN											0	0	0	0.00245	0	14	20				
FLNA	2316	broad.mit.edu	37	X	153578566	153578566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153578566G>A	uc004fkk.2	-	45	7415	c.7166C>T	c.(7165-7167)GCT>GTT	p.A2389V	FLNA_uc004fki.2_Missense_Mutation_p.A432V|FLNA_uc011mzn.1_Missense_Mutation_p.A522V|FLNA_uc010nuu.1_Missense_Mutation_p.A2381V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2389	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGCGCACAGCATACTTATC	0.582		NaN											0	0	0	0.003954	0	23	58				
CTAG2	30848	broad.mit.edu	37	X	153880854	153880854	+	Silent	SNP	C	C	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:153880854C>T	uc004fmi.1	-	2	374	c.321G>A	c.(319-321)AGG>AGA	p.R107R	CTAG2_uc004fmh.1_Silent_p.R107R	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	107						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACAGGATCCTGCGGACCA	0.622		NaN											0	0	0	0.001523	0	18	35				
PQLC2	54896	broad.mit.edu	37	1	19653755	19653755	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:19653755C>G	uc001bby.2	+	8	1005	c.653C>G	c.(652-654)TCT>TGT	p.S218C	PQLC2_uc001bbz.2_Missense_Mutation_p.S153C|PQLC2_uc001bca.2_Missense_Mutation_p.S218C|PQLC2_uc001bcb.2_Missense_Mutation_p.S107C|PQLC2_uc001bcc.2_Missense_Mutation_p.S107C	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	218	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCTACTCTCTGTTCGCG	0.527		NaN											0	0	0	0.080935	0	9	81				
HDAC1	3065	broad.mit.edu	37	1	32797278	32797278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:32797278C>T	uc001bvb.1	+	11	1153	c.1090C>T	c.(1090-1092)CAG>TAG	p.Q364*	HDAC1_uc010ohf.1_Nonsense_Mutation_p.Q335*|HDAC1_uc001bvc.1_Nonsense_Mutation_p.Q120*	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	364					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGGCCACAGACAGCGACTGTT	0.552		NaN											0	0	0	0.125774	0	26	89				
CYP4Z1	199974	broad.mit.edu	37	1	47583503	47583503	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:47583503G>T	uc001cqu.1	+	12	1418	c.1415G>T	c.(1414-1416)CGC>CTC	p.R472L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	472	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						ACTCTGCTCCGCTTCAAGCTG	0.468		NaN											1	0	9.7654e-05	0.043863	0.000105708	19	35				
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:119923746C>T	uc001ehq.1	+	3	390	c.38C>T	c.(37-39)GCG>GTG	p.A13V	HAO2_uc001ehr.1_Missense_Mutation_p.A13V	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	13	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473		NaN											0	0	0	0.014758	0	4	144				
SEC22B	9554	broad.mit.edu	37	1	145103956	145103956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:145103956C>T	uc001eml.1	+	4	264	c.124C>T	c.(124-126)CGA>TGA	p.R42*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	42	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						GTAACTCTTTCGAAAGTTGAA	0.388		NaN											0	0	0	0.014758	0	3	20				
SNX27	81609	broad.mit.edu	37	1	151655862	151655862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:151655862A>G	uc001eyn.1	+	8	1196	c.1180A>G	c.(1180-1182)AAA>GAA	p.K394E	SNX27_uc001eyo.2_Missense_Mutation_p.K301E|SNX27_uc001eyp.2_Missense_Mutation_p.K208E	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	394					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTTACATCAAAGCAGAAGA	0.358		NaN											0	0	0	0.058154	0	8	23				
RGS5	8490	broad.mit.edu	37	1	163117208	163117208	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:163117208C>G	uc001gcn.2	-	5	717	c.470G>C	c.(469-471)AGA>ACA	p.R157T	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	157	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGGATTCTTTTCTGGGC	0.453		NaN											0	0	0	0.049695	0	20	46				
HMCN1	83872	broad.mit.edu	37	1	186024541	186024541	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:186024541C>T	uc001grq.1	+	45	7108	c.6879C>T	c.(6877-6879)ACC>ACT	p.T2293T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2293	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAACCATAACCAACAGTGGCA	0.443		NaN											0	0	0	0.062417	0	19	37				
SIPA1L2	57568	broad.mit.edu	37	1	232601037	232601037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:232601037G>A	uc001hvg.2	-	7	2527	c.2369C>T	c.(2368-2370)GCA>GTA	p.A790V	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	790	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTATGGGCTGCATTTTCTGC	0.488		NaN											0	0	0	0.014758	0	4	138				
LYST	1130	broad.mit.edu	37	1	235952067	235952067	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:235952067G>A	uc001hxj.2	-	13	4797	c.4622C>T	c.(4621-4623)TCA>TTA	p.S1541L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1541					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGATCCCAGTGAAATTATATG	0.408		NaN							Chediak-Higashi_syndrome				0	0	0	0.069234	0	11	20				
HEATR1	55127	broad.mit.edu	37	1	236716940	236716940	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716940A>G	uc001hyd.1	-	43	6303	c.6178T>C	c.(6178-6180)TCT>CCT	p.S2060P	HEATR1_uc009xgh.1_Missense_Mutation_p.S1222P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	2060					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCAAAGAGAGTCATCCGCC	0.493		NaN											0	0	0	0.050027	0	16	55				
HEATR1	55127	broad.mit.edu	37	1	236716964	236716964	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:236716964A>G	uc001hyd.1	-	43	6279	c.6154T>C	c.(6154-6156)TTT>CTT	p.F2052L	HEATR1_uc009xgh.1_Missense_Mutation_p.F1214L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	2052					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCCACCGAAAACTGTGCGATG	0.493		NaN											0	0	0	0.080422	0	19	58				
OR2T33	391195	broad.mit.edu	37	1	248436878	248436878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:248436878G>A	uc010pzi.1	-	1	239	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTAGTCAGCCGCCATTTTGGG	0.567		NaN											0	0	0	0.139131	0	51	163				
RPP38	10557	broad.mit.edu	37	10	15145354	15145354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:15145354G>A	uc001iny.3	+	3	754	c.41G>A	c.(40-42)CGT>CAT	p.R14H	RPP38_uc009xjm.2_Missense_Mutation_p.R14H|RPP38_uc001inx.3_Missense_Mutation_p.R14H	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	14					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						GGATCTCTCCGTAAGACGAGA	0.498		NaN											0	0	0	0.099896	0	26	70				
NPFFR1	64106	broad.mit.edu	37	10	72026088	72026088	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:72026088C>T	uc010qjk.1	-	1	67	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	23	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						GGGGTGGCCTCAGTGTTAGTC	0.557		NaN											0	0	0	0.014758	0	5	27				
DNTT	1791	broad.mit.edu	37	10	98078110	98078110	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:98078110G>A	uc001kmf.2	+	2	375	c.205G>A	c.(205-207)GAT>AAT	p.D69N	DNTT_uc001kmg.2_Missense_Mutation_p.D69N	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	69	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ATTTTGCAGTGATTCTGTCAC	0.458		NaN											0	0	0	0.139131	0	55	83				
SORCS1	114815	broad.mit.edu	37	10	108380301	108380301	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:108380301T>C	uc001kym.2	-	20	2689	c.2681A>G	c.(2680-2682)CAC>CGC	p.H894R	SORCS1_uc001kyl.2_Missense_Mutation_p.H894R|SORCS1_uc009xxs.2_Missense_Mutation_p.H894R|SORCS1_uc001kyn.1_Missense_Mutation_p.H894R|SORCS1_uc001kyo.2_Missense_Mutation_p.H894R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	894	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGAGACAGGTGCACGTGCTC	0.557		NaN											0	0	0	0.0333	0	17	30				
INPP5A	3632	broad.mit.edu	37	10	134563026	134563026	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr10:134563026C>G	uc001llp.2	+	10	986	c.738C>G	c.(736-738)CTC>CTG	p.L246L	INPP5A_uc001llo.1_Silent_p.L246L|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	246					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGCAGACGCTCTGCACAAAAG	0.612		NaN											0	0	0	0.099896	0	23	47				
QSER1	79832	broad.mit.edu	37	11	32994985	32994985	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:32994985G>A	uc001mty.2	+	11	5128	c.4861G>A	c.(4861-4863)GAT>AAT	p.D1621N	QSER1_uc001mtz.1_Missense_Mutation_p.D1382N|QSER1_uc001mua.2_Missense_Mutation_p.D1126N	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1621										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					AATTACTCGAGATTCTAAAGC	0.333		NaN											0	0	0	0.069288	0	23	30				
TYR	7299	broad.mit.edu	37	11	88911384	88911384	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr11:88911384C>T	uc001pcs.2	+	1	345	c.263C>T	c.(262-264)ACC>ATC	p.T88I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	88	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TATAATAGGACCTGCCAGTGC	0.502		NaN							Oculocutaneous_Albinism				0	0	0	0.047766	0	9	36				
KCNA6	3742	broad.mit.edu	37	12	4919301	4919301	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:4919301G>A	uc001qng.2	+	1	960	c.94G>A	c.(94-96)GGC>AGC	p.G32S		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	32						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CCCGGAGGCCGGCGGGGGCGG	0.662		NaN								HNSCC(72;0.22)			0	0	0	0.045705	0	27	56				
SP1	6667	broad.mit.edu	37	12	53776442	53776442	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:53776442C>G	uc001scw.2	+	3	808	c.711C>G	c.(709-711)CCC>CCG	p.P237P	SP1_uc010sog.1_Silent_p.P230P	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	237	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGGCTGTCCCCCTCCAAGGCC	0.488		NaN											0	0	0	0.069288	0	24	61				
C12orf45	121053	broad.mit.edu	37	12	105381948	105381948	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:105381948T>A	uc001tlb.2	+	2	152	c.119T>A	c.(118-120)ATA>AAA	p.I40K		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	40											0						TTTTCAGGTATATGGGACAGG	0.438		NaN											0	0	0	0.02938	0	7	10				
NBEA	26960	broad.mit.edu	37	13	36026232	36026232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr13:36026232C>T	uc001uvb.2	+	40	6514	c.6308C>T	c.(6307-6309)ACG>ATG	p.T2103M	NBEA_uc010abi.2_Missense_Mutation_p.T759M	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2103						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATTAGGCACGGAAGAAGAT	0.308		NaN											0	0	0	0.09319	0	9	12				
MIPOL1	145282	broad.mit.edu	37	14	37892073	37892073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:37892073C>T	uc001wuc.2	+	12	1453	c.950C>T	c.(949-951)TCT>TTT	p.S317F	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286F|MIPOL1_uc001wud.2_Missense_Mutation_p.S317F|MIPOL1_uc010ams.2_Missense_Mutation_p.S317F|MIPOL1_uc001wue.2_Missense_Mutation_p.S286F|MIPOL1_uc010amt.2_Missense_Mutation_p.S136F	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	317	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAGTTGTTATCTATGCAACAA	0.323		NaN											0	0	0	0.058154	0	7	14				
KIAA0831	22863	broad.mit.edu	37	14	55836491	55836491	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:55836491C>T	uc001xbx.1	-	10	1361	c.1325G>A	c.(1324-1326)CGG>CAG	p.R442Q	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R329Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	442					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						ATCACAAAACCGGGGACTAGG	0.587		NaN											0	0	0	0.132662	0	16	43				
SPTB	6710	broad.mit.edu	37	14	65259855	65259855	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:65259855C>T	uc001xht.2	-	13	2580	c.2526G>A	c.(2524-2526)CAG>CAA	p.Q842Q	SPTB_uc001xhr.2_Silent_p.Q842Q|SPTB_uc001xhs.2_Silent_p.Q842Q|SPTB_uc001xhu.2_Silent_p.Q842Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	842	Spectrin 6.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCCTCTGCTGACGCA	0.627		NaN											0	0	0	0.105934	0	13	50				
TTLL5	23093	broad.mit.edu	37	14	76186104	76186104	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr14:76186104A>G	uc001xrx.2	+	11	1074	c.869A>G	c.(868-870)TAT>TGT	p.Y290C	TTLL5_uc010ask.1_Missense_Mutation_p.Y290C|TTLL5_uc001xry.1_Intron	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	290	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGGAGGATTATGGAAACAAA	0.388		NaN											0	0	0	0.115264	0	2	23				
HERC2	8924	broad.mit.edu	37	15	28467317	28467317	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:28467317G>C	uc001zbj.2	-	36	5615	c.5509C>G	c.(5509-5511)CAA>GAA	p.Q1837E		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1837					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGCACCTTGAGCAGAAGCA	0.493		NaN											0	0	0	0.080935	0	8	26				
CASC5	57082	broad.mit.edu	37	15	40914878	40914878	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:40914878G>C	uc010bbs.1	+	11	2655	c.2494G>C	c.(2494-2496)GAA>CAA	p.E832Q	CASC5_uc010ucq.1_Missense_Mutation_p.E656Q|CASC5_uc001zme.2_Missense_Mutation_p.E806Q|CASC5_uc010bbt.1_Missense_Mutation_p.E806Q	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	832					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTAAAAGTTGAAAAATGTGG	0.358		NaN											0	0	0	0.02938	0	6	17				
DENND4A	10260	broad.mit.edu	37	15	65988761	65988761	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr15:65988761C>T	uc002aph.2	-	21	3271	c.2893G>A	c.(2893-2895)GTT>ATT	p.V965I	DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GTGAGGCGAACGATACTGGAA	0.383		NaN											0	0	0	0.021553	0	5	26				
NOXO1	124056	broad.mit.edu	37	16	2029466	2029466	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:2029466G>T	uc002cnx.2	-	7	797	c.793C>A	c.(793-795)CGC>AGC	p.R265S	NOXO1_uc002cnz.2_Missense_Mutation_p.R259S|NOXO1_uc002coa.2_Missense_Mutation_p.R264S|NOXO1_uc002cny.2_Missense_Mutation_p.R260S	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1 isoform c	265	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity				0						TCCAACACGCGCACGCGCGCC	0.706		NaN											1	0	2.0095e-06	0.02938	2.19789e-06	6	28				
CD19	930	broad.mit.edu	37	16	28948412	28948412	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:28948412G>A	uc002drs.2	+	8	1215	c.1153G>A	c.(1153-1155)GTC>ATC	p.V385I	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.V385I	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	385	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GAGCAGCGACGTCCAGGCGGA	0.682		NaN											0	0	0	0.014758	0	4	17				
CX3CL1	6376	broad.mit.edu	37	16	57416628	57416628	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:57416628C>T	uc002eli.2	+	3	945	c.878C>T	c.(877-879)TCA>TTA	p.S293L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	293	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCTGTCTCCTCAGAAGGGACC	0.672		NaN											0	0	0	0.043863	0	19	55				
ADAMTS18	170692	broad.mit.edu	37	16	77465414	77465414	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr16:77465414C>G	uc002ffc.3	-	3	692	c.273G>C	c.(271-273)CAG>CAC	p.Q91H	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTCTGGCATTCTGCGCCGATC	0.478		NaN											0	0	0	0.139131	0	59	160				
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:33769076G>C	uc002hjk.1	-	3	1758	c.1428C>G	c.(1426-1428)CTC>CTG	p.L476L	SLFN13_uc010wch.1_Silent_p.L476L|SLFN13_uc002hjl.2_Silent_p.L476L|SLFN13_uc010ctt.2_Silent_p.L158L|SLFN13_uc002hjm.2_Silent_p.L145L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557		NaN											0	0	0	0.132662	0	14	100				
UBTF	7343	broad.mit.edu	37	17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:42286824C>T	uc002igb.2	-	16	1868	c.1801G>A	c.(1801-1803)GGC>AGC	p.G601S	UBTF_uc002igc.2_Missense_Mutation_p.G564S|UBTF_uc010czs.2_Missense_Mutation_p.G601S|UBTF_uc002igd.2_Missense_Mutation_p.G564S|UBTF_uc010czt.2_Missense_Mutation_p.G601S|UBTF_uc002ige.2_Missense_Mutation_p.G564S	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	601	HMG box 6.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597		NaN											0	0	0	0.080935	0	11	46				
CBX1	10951	broad.mit.edu	37	17	46154251	46154251	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:46154251A>G	uc002ind.3	-	2	597	c.116T>C	c.(115-117)CTC>CCC	p.L39P	CBX1_uc002ine.3_Missense_Mutation_p.L39P	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	39	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						CCACTTTAGGAGGTACTCCAC	0.463		NaN											0	0	0	0.009096	0	3	146				
CARD14	79092	broad.mit.edu	37	17	78166304	78166304	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr17:78166304C>G	uc002jxw.1	+	9	1437	c.1242C>G	c.(1240-1242)CTC>CTG	p.L414L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L414L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.L177L|CARD14_uc010dhu.1_Silent_p.L212L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	414					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGCAGCTCAAGCAGGAAG	0.612		NaN											0	0	0	0.049695	0	19	59				
TCEB3B	51224	broad.mit.edu	37	18	44561319	44561319	+	Missense_Mutation	SNP	T	T	C	rs146911955	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561319T>C	uc002lcr.1	-	1	670	c.317A>G	c.(316-318)CAG>CGG	p.Q106R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	106					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGCCTTTTCCTGGTCCTGAAG	0.652		NaN											0	0	0	0.069234	0	11	74				
TCEB3B	51224	broad.mit.edu	37	18	44561321	44561321	+	Missense_Mutation	SNP	G	G	C	rs138936821	byFrequency	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr18:44561321G>C	uc002lcr.1	-	1	668	c.315C>G	c.(313-315)GAC>GAG	p.D105E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	105					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CCTTTTCCTGGTCCTGAAGAG	0.662		NaN											0	0	0	0.058154	0	10	71				
MPND	84954	broad.mit.edu	37	19	4357557	4357557	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:4357557C>G	uc002mae.2	+	10	1278	c.1211C>G	c.(1210-1212)CCT>CGT	p.P404R	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.P354R|MPND_uc002maf.2_Missense_Mutation_p.P404R|MPND_uc002mah.2_Missense_Mutation_p.P292R|MPND_uc002mai.2_Missense_Mutation_p.P263R	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	404							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCTCACCTTTCTGGGTG	0.672		NaN											0	0	0	0.09319	0	7	26				
KIAA1543	57662	broad.mit.edu	37	19	7675446	7675446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:7675446C>T	uc002mgv.3	+	6	946	c.845C>T	c.(844-846)CCT>CTT	p.P282L	KIAA1543_uc002mgu.3_Missense_Mutation_p.P309L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	282	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						TCTCGCCTTCCTCGTGGCTGC	0.642		NaN											0	0	0	0.139131	0	63	164				
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr19:23543307G>A	uc002nre.2	-	4	2587	c.2474C>T	c.(2473-2475)CCC>CTC	p.P825L	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.P793L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403		NaN											0	0	0	0.080935	0	11	52				
POLR1A	25885	broad.mit.edu	37	2	86258591	86258591	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258591C>G	uc002sqs.2	-	30	4819	c.4440G>C	c.(4438-4440)CTG>CTC	p.L1480L	POLR1A_uc010ytb.1_Silent_p.L846L	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1480					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GGGGCTGCGTCAGGAGGGCGG	0.632		NaN											0	0	0	0.086207	0	36	111				
POLR1A	25885	broad.mit.edu	37	2	86258707	86258707	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258707C>T	uc002sqs.2	-	30	4703	c.4324G>A	c.(4324-4326)GAT>AAT	p.D1442N	POLR1A_uc010ytb.1_Missense_Mutation_p.D808N	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1442					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						atgtcttcatcgtcgttctcc	0.393		NaN											0	0	0	0.038395	0	17	53				
POLR1A	25885	broad.mit.edu	37	2	86258743	86258743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr2:86258743C>A	uc002sqs.2	-	30	4667	c.4288G>T	c.(4288-4290)GAG>TAG	p.E1430*	POLR1A_uc010ytb.1_Nonsense_Mutation_p.E796*	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1430					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						tcctcttcctcACTCTCATAA	0.383		NaN											1	0	1.67942e-08	0.038395	1.8562e-08	18	56				
CDH26	60437	broad.mit.edu	37	20	58545166	58545166	+	Silent	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:58545166C>T	uc002ybe.2	+	3	456	c.156C>T	c.(154-156)TCC>TCT	p.S52S	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	52	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TACGGCGATCCAAGAGAAGAT	0.502		NaN											0	0	0	0.108266	0	24	112				
LSM14B	149986	broad.mit.edu	37	20	60697745	60697745	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr20:60697745C>T	uc010gjy.1	+	1	229	c.23C>T	c.(22-24)CCG>CTG	p.P8L	LSM14B_uc002ybt.2_Missense_Mutation_p.P8L|LSM14B_uc010gjx.1_Missense_Mutation_p.P8L|LSM14B_uc002ybv.2_Missense_Mutation_p.P8L|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	8					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAGGCACCCCGTATCTGGGC	0.542		NaN											0	0	0	0.021553	0	6	33				
COL18A1	80781	broad.mit.edu	37	21	46914788	46914788	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr21:46914788C>T	uc011afs.1	+	27	3658	c.3637C>T	c.(3637-3639)CGG>TGG	p.R1213W	COL18A1_uc002zhg.2_Missense_Mutation_p.R798W|COL18A1_uc002zhi.2_Missense_Mutation_p.R978W	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1213	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCATACGGACGGCCGGGGTA	0.682		NaN											0	0	0	0.047766	0	7	22				
GGT1	2678	broad.mit.edu	37	22	25011027	25011027	+	Silent	SNP	C	C	T	rs112364951	by1000genomes	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:25011027C>T	uc003aan.1	+	7	802	c.315C>T	c.(313-315)AAC>AAT	p.N105N	GGT1_uc003aas.1_Silent_p.N105N|GGT1_uc003aat.1_Silent_p.N105N|GGT1_uc003aau.1_Silent_p.N105N|GGT1_uc003aav.1_Silent_p.N105N|GGT1_uc003aaw.1_Silent_p.N105N|GGT1_uc003aax.1_Silent_p.N105N	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	105	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	AGGTCATCAACGCCCGCGAGG	0.637		NaN											0	0	0	0.009096	0	4	60				
LARGE	9215	broad.mit.edu	37	22	33780235	33780235	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:33780235C>G	uc003and.3	-	9	1527	c.948G>C	c.(946-948)TGG>TGC	p.W316C	LARGE_uc011amd.1_Missense_Mutation_p.W115C|LARGE_uc003ane.3_Missense_Mutation_p.W316C|LARGE_uc010gwp.2_Missense_Mutation_p.W316C|LARGE_uc011ame.1_Missense_Mutation_p.W248C|LARGE_uc011amf.1_Missense_Mutation_p.W316C|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	316	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CGGTCAGCCTCCACATCTGCT	0.488		NaN											0	0	0	0.059317	0	35	85				
CYTH4	27128	broad.mit.edu	37	22	37699360	37699360	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:37699360C>T	uc003arf.2	+	8	729	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CYTH4_uc003are.2_Missense_Mutation_p.R205W|CYTH4_uc011amw.1_Missense_Mutation_p.R148W|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	205	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCCAACGTCCGGGACAGGCC	0.612		NaN											0	0	0	0.058154	0	9	52				
PLXNB2	23654	broad.mit.edu	37	22	50718455	50718455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50718455G>C	uc003bkv.3	-	26	4327	c.4221C>G	c.(4219-4221)ATC>ATG	p.I1407M	PLXNB2_uc003bkt.1_Missense_Mutation_p.I199M|PLXNB2_uc003bku.1_Missense_Mutation_p.I392M	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1407	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTACAGGCAGATGGACATCC	0.607		NaN											0	0	0	0.058154	0	10	46				
TYMP	1890	broad.mit.edu	37	22	50968116	50968116	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr22:50968116C>T	uc003bmb.3	-	1	143	c.23G>A	c.(22-24)GGA>GAA	p.G8E	TYMP_uc003bmc.3_Missense_Mutation_p.G8E|TYMP_uc003bmd.3_Missense_Mutation_p.G8E|TYMP_uc010hbd.2_Missense_Mutation_p.G8E|TYMP_uc003bme.3_Missense_Mutation_p.G8E|TYMP_uc003bmf.3_Missense_Mutation_p.G8E|TYMP_uc011arz.1_Missense_Mutation_p.G8E	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	8					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGCCCCGGTTCCCGGGGTCAT	0.716		NaN											0	0	0	0.014758	0	4	25				
FGD5	152273	broad.mit.edu	37	3	14862507	14862507	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:14862507G>A	uc003bzc.2	+	1	2039	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	FGD5_uc011avk.1_Silent_p.P643P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	643					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GCGACTCCCCGGACAAGTACA	0.507		NaN											0	0	0	0.062417	0	21	45				
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:49397710C>T	uc003cwu.2	-	5	790	c.514G>A	c.(514-516)GAA>AAA	p.E172K	RHOA_uc010hku.2_Missense_Mutation_p.E91K|GPX1_uc011bcl.1_5'Flank|GPX1_uc011bcm.1_5'Flank	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	172					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTAGCCATTTCAAAAACCTCT	0.483		NaN											0	0	0	0.055883	0	20	91		Valid		
ADPRH	141	broad.mit.edu	37	3	119305346	119305346	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:119305346G>A	uc003ecs.2	+	4	811	c.513G>A	c.(511-513)GGG>GGA	p.G171G	ADPRH_uc010hqv.2_Silent_p.G171G|ADPRH_uc011bjb.1_Silent_p.G64G|ADPRH_uc003ect.2_Silent_p.G171G	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	171					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCTACCTGGGGGCCCTTGCGT	0.542		NaN											0	0	0	0.069456	0	38	115				
PLSCR1	5359	broad.mit.edu	37	3	146251317	146251317	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr3:146251317G>T	uc003evx.3	-	3	422	c.34C>A	c.(34-36)CAC>AAC	p.H12N	PLSCR1_uc003evy.3_Missense_Mutation_p.H5N|PLSCR1_uc011bnn.1_Silent_p.L3L|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.H12N	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	12	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GTTTCCGGGTGAGAAGCATTC	0.348		NaN											1	0	3.62473e-10	0.062417	4.0489e-10	22	82				
BOD1L	259282	broad.mit.edu	37	4	13601146	13601146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601146C>A	uc003gmz.1	-	10	7495	c.7378G>T	c.(7378-7380)GAA>TAA	p.E2460*	BOD1L_uc010idr.1_Nonsense_Mutation_p.E1797*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2460							DNA binding			ovary(5)|breast(1)	6						TTCTTCTCTTCTGCATTTATG	0.468		NaN									OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.39187e-15	0.049695	2.7005e-15	19	60				
BOD1L	259282	broad.mit.edu	37	4	13601587	13601587	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:13601587C>T	uc003gmz.1	-	10	7054	c.6937G>A	c.(6937-6939)GAA>AAA	p.E2313K	BOD1L_uc010idr.1_Missense_Mutation_p.E1650K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2313							DNA binding			ovary(5)|breast(1)	6						AGCCGATCTTCATCCTGGAGG	0.522		NaN											0	0	0	0.058154	0	10	6				
PCDH18	54510	broad.mit.edu	37	4	138451062	138451062	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr4:138451062C>G	uc003ihe.3	-	1	2568	c.2181G>C	c.(2179-2181)GAG>GAC	p.E727D	PCDH18_uc003ihf.3_Missense_Mutation_p.E720D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507D|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	727	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TGTCTTTCTTCTCGCGGTTAC	0.448		NaN											0	0	0	0.069288	0	23	43				
SLC6A19	340024	broad.mit.edu	37	5	1214154	1214154	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:1214154C>G	uc003jbw.3	+	6	917	c.861C>G	c.(859-861)ATC>ATG	p.I287M		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	287	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCCTCATCTCCTTCTCCA	0.622		NaN											0	0	0	0.0918	0	24	85				
IL6ST	3572	broad.mit.edu	37	5	55252048	55252048	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:55252048C>G	uc003jqq.2	-	10	1327	c.1072G>C	c.(1072-1074)GAA>CAA	p.E358Q	IL6ST_uc010iwb.2_Missense_Mutation_p.E358Q|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E69Q|IL6ST_uc003jqr.2_Nonstop_Mutation_p.*330S	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	358	Extracellular (Potential).|Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCATTGGCTTCAAAAGGAGGC	0.279		NaN	O		hepatocellular ca								0	0	0	0.02938	0	7	35				
PCDHA4	56144	broad.mit.edu	37	5	140188974	140188974	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140188974G>A	uc003lhi.2	+	1	2303	c.2202G>A	c.(2200-2202)CCG>CCA	p.P734P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P734P|PCDHA4_uc011daa.1_Silent_p.P734P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	734	Cytoplasmic (Potential).|PXXP 1.|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTCCGGGCAAGCCCA	0.682		NaN											0	0	0	0.055883	0	22	50				
PCDHA9	9752	broad.mit.edu	37	5	140229486	140229486	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140229486C>T	uc003lhu.2	+	1	2130	c.1406C>T	c.(1405-1407)CCG>CTG	p.P469L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.P469L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCGGGCTGC	0.672		NaN											0	0	0	0.09836	0	41	87				
PCDHB2	56133	broad.mit.edu	37	5	140476332	140476332	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140476332C>T	uc003lil.2	+	1	2096	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	PCDHB2_uc003lim.1_Missense_Mutation_p.P314L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	653	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.721		NaN											0	0	0	0.0918	0	24	68				
PCDHB4	56131	broad.mit.edu	37	5	140503159	140503159	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140503159G>A	uc003lip.1	+	1	1579	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	527	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGCGT	0.677		NaN											0	0	0	0.092188	0	42	85				
PCDHB15	56121	broad.mit.edu	37	5	140626734	140626734	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr5:140626734C>T	uc003lje.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	530	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.662		NaN											0	0	0	0.045705	0	33	78				
HIST1H1D	3007	broad.mit.edu	37	6	26234607	26234607	+	Silent	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:26234607T>C	uc003nhd.2	-	1	610	c.555A>G	c.(553-555)AAA>AAG	p.K185K		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	185					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TCTTGGCAGCTTTTTTTGGCT	0.522		NaN											0	0	0	0.009096	0	3	131				
VARS	7407	broad.mit.edu	37	6	31760629	31760629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:31760629C>T	uc003nxe.2	-	4	989	c.566G>A	c.(565-567)CGC>CAC	p.R189H	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	189	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GACAAACCAGCGAGTCACATT	0.547		NaN											0	0	0	0.080935	0	12	46				
GPR110	266977	broad.mit.edu	37	6	46969267	46969267	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:46969267G>A	uc003oyt.2	-	14	2829	c.2630C>T	c.(2629-2631)TCA>TTA	p.S877L	GPR110_uc011dwl.1_Missense_Mutation_p.S565L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	877	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						GAAAGGCTTTGAGAATTTGGG	0.313		NaN											0	0	0	0.080935	0	9	18				
CD164	8763	broad.mit.edu	37	6	109691643	109691643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:109691643G>C	uc003pte.2	-	5	579	c.398C>G	c.(397-399)TCT>TGT	p.S133C	CD164_uc003ptd.2_Missense_Mutation_p.S133C|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133C|CD164_uc010kdn.2_Missense_Mutation_p.S120C	NM_006016	NP_006007	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin isoform 1	133	Thr-rich.|Extracellular (Potential).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding				0		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GGAAGTTGTAGAAGGGGAGGG	0.378		NaN											0	0	0	0.014758	0	4	21				
TNFAIP3	7128	broad.mit.edu	37	6	138198247	138198247	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr6:138198247G>A	uc003qhr.2	+	6	906	c.840G>A	c.(838-840)CGG>CGA	p.R280R	TNFAIP3_uc003qhs.2_Silent_p.R280R	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	280	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAGAGACCGGGGAAGATTTG	0.358		NaN	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								0	0	0	0.146539	0	13	47				
KLHL7	55975	broad.mit.edu	37	7	23164704	23164704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:23164704G>A	uc003svs.3	+	4	648	c.355G>A	c.(355-357)GAT>AAT	p.D119N	KLHL7_uc003svr.3_Missense_Mutation_p.D97N|KLHL7_uc011jys.1_Missense_Mutation_p.D43N|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.D71N|KLHL7_uc003svp.2_Missense_Mutation_p.D97N|KLHL7_uc003svq.2_Missense_Mutation_p.D119N|KLHL7_uc011jyu.1_Missense_Mutation_p.D97N	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	119						Golgi apparatus|nucleolus|plasma membrane					0						GTCTTTGCTGGATGCAGCAAA	0.318		NaN											0	0	0	0.146539	0	16	28				
SEMA3D	223117	broad.mit.edu	37	7	84751133	84751133	+	Silent	SNP	T	T	C			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:84751133T>C	uc003uic.2	-	1	115	c.75A>G	c.(73-75)CTA>CTG	p.L25L	SEMA3D_uc010led.2_Silent_p.L25L|SEMA3D_uc010lee.1_Silent_p.L25L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	25					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TGGTCATGCTTAGCATCATCA	0.333		NaN											0	0	0	0.049695	0	19	31				
SVOPL	136306	broad.mit.edu	37	7	138310792	138310792	+	Silent	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:138310792G>A	uc011kqh.1	-	12	1185	c.1185C>T	c.(1183-1185)GCC>GCT	p.A395A	SVOPL_uc003vue.2_Silent_p.A243A	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	395	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						CAATCAGGCCGGCACTAGAAA	0.502		NaN											0	0	0	0.115264	0	3	38				
CDKN2B	1030	broad.mit.edu	37	9	22006036	22006036	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:22006036G>A	uc003zpo.2	-	2	727	c.367C>T	c.(367-369)CGG>TGG	p.R123W	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B isoform 1	123	ANK 4.				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGGTGGCCCCGCTCCTCGGCC	0.682		NaN							Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System				0	0	0	0.038147	0	6	14				
PTPN3	5774	broad.mit.edu	37	9	112145729	112145729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:112145729G>A	uc004bed.2	-	23	2468	c.2356C>T	c.(2356-2358)CGA>TGA	p.R786*	PTPN3_uc004beb.2_Nonsense_Mutation_p.R655*|PTPN3_uc004bec.2_Nonsense_Mutation_p.R610*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.R741*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.R632*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.R254*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.R499*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.R454*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	786	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGCATTTCTCGGGACACATAG	0.602		NaN											0	0	0	0.117977	0	45	73				
TTF1	7270	broad.mit.edu	37	9	135263551	135263551	+	Missense_Mutation	SNP	G	G	A	rs112758716		TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135263551G>A	uc004cbl.2	-	8	2339	c.2287C>T	c.(2287-2289)CGG>TGG	p.R763W	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.R248W	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	763					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCTTGGCCCGCAGGGCATTC	0.363		NaN											0	0	0	0.115264	0	3	38				
GFI1B	8328	broad.mit.edu	37	9	135866388	135866388	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:135866388G>A	uc004ccg.2	+	7	1095	c.944G>A	c.(943-945)CGC>CAC	p.R315H	GFI1B_uc010mzy.2_Missense_Mutation_p.R269H	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	315	C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCTTCCAGCGCAAGGTGGAC	0.647		NaN											0	0	0	0.009096	0	3	53				
CACNA1B	774	broad.mit.edu	37	9	140811877	140811877	+	Silent	SNP	C	C	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr9:140811877C>G	uc004cog.2	+	6	1105	c.960C>G	c.(958-960)CTC>CTG	p.L320L		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	320	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGACATCCTCTATAATGTGA	0.582		NaN											0	0	0	0.144211	0	27	41				
KDM6A	7403	broad.mit.edu	37	X	44870260	44870260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chrX:44870260C>T	uc004dge.3	+	5	814	c.439C>T	c.(439-441)CAG>TAG	p.Q147*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q147*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q147*|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	147	TPR 2.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAATGCATTTCAGTGGTAAGT	0.318		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.069234	0	10	4		Valid		
MIB2	142678	broad.mit.edu	37	1	1564037	1564037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:1564037C>G	uc001agg.2	+	16	2438	c.2311C>G	c.(2311-2313)CAG>GAG	p.Q771E	MIB2_uc001agh.2_Missense_Mutation_p.Q757E|MIB2_uc001agi.2_Missense_Mutation_p.Q767E|MIB2_uc001agj.2_Missense_Mutation_p.Q612E|MIB2_uc001agk.2_Missense_Mutation_p.Q706E|MIB2_uc001agl.1_Missense_Mutation_p.Q727E|MIB2_uc001agm.2_Missense_Mutation_p.Q648E|MIB2_uc010nyq.1_Missense_Mutation_p.Q727E|MIB2_uc009vkh.2_Missense_Mutation_p.Q577E|MIB2_uc001agn.2_Missense_Mutation_p.Q403E|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	771	ANK 8.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGTCATCAGCTGCTGCC	0.701		NaN											0	0	0	0.000248	0	4	5				
MEGF6	1953	broad.mit.edu	37	1	3421837	3421837	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:3421837T>C	uc001akl.2	-	17	2350	c.2123A>G	c.(2122-2124)GAC>GGC	p.D708G	MEGF6_uc001akk.2_Missense_Mutation_p.D603G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	708						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCACGGAGTCACAGGCCAC	0.692		NaN											0	0	0	0.001168	0	6	35				
NOL9	79707	broad.mit.edu	37	1	6589194	6589194	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:6589194G>C	uc001ans.2	-	10	1704	c.1685C>G	c.(1684-1686)TCT>TGT	p.S562C	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	562					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGACATCAGAGTGGGTAAT	0.468		NaN											0	0	0	0.001984	0	6	46				
RERE	473	broad.mit.edu	37	1	8424172	8424172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:8424172C>G	uc001ape.2	-	16	2494	c.1684G>C	c.(1684-1686)GAG>CAG	p.E562Q	RERE_uc001apf.2_Missense_Mutation_p.E562Q|RERE_uc010nzx.1_Missense_Mutation_p.E294Q|RERE_uc001apd.2_Missense_Mutation_p.E8Q	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	562					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCATCATCCTCTTCCTTGACG	0.587		NaN											0	0	0	0.001855	0	13	77				
SLC25A33	84275	broad.mit.edu	37	1	9633411	9633411	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:9633411C>A	uc001apw.2	+	5	646	c.423C>A	c.(421-423)ATC>ATA	p.I141I	SLC25A33_uc001apx.2_Silent_p.I74I	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	mitochondrial carrier protein MGC4399	141	Solcar 2.|Helical; Name=3; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTTTTATCACAAATTCCT	0.294		NaN											1	0	0.00116845	0.001168	0.0013894	6	20				
SRM	6723	broad.mit.edu	37	1	11116794	11116794	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:11116794C>A	uc001arz.1	-	4	493	c.402G>T	c.(400-402)AAG>AAT	p.K134N	SRM_uc001ary.1_5'UTR	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	134					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCAGGAACTTCTTGGAGACTT	0.577		NaN											1	0	6.40141e-05	0.000978	7.64982e-05	11	48				
VPS13D	55187	broad.mit.edu	37	1	12326961	12326961	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12326961C>G	uc001atv.2	+	14	1759	c.1618C>G	c.(1618-1620)CTT>GTT	p.L540V	VPS13D_uc001atw.2_Missense_Mutation_p.L540V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	540					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGAGTCTCTTCCTCGAAG	0.368		NaN											0	0	0	0.001882	0	22	42				
VPS13D	55187	broad.mit.edu	37	1	12336868	12336868	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12336868G>C	uc001atv.2	+	19	3364	c.3223G>C	c.(3223-3225)GAG>CAG	p.E1075Q	VPS13D_uc001atw.2_Missense_Mutation_p.E1075Q|VPS13D_uc001atx.2_Missense_Mutation_p.E263Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1075					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTACCAAAGAGCAAGAGTC	0.438		NaN									OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.002836	0	32	80				
ARHGEF19	128272	broad.mit.edu	37	1	16532692	16532692	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:16532692G>C	uc001ayc.1	-	7	1418	c.1281C>G	c.(1279-1281)GTC>GTG	p.V427V	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	427	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCTCTTGACCTCGGGCA	0.647		NaN											0	0	0	0.001984	0	5	14				
KLHDC7A	127707	broad.mit.edu	37	1	18808555	18808555	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:18808555C>T	uc001bax.2	+	1	1132	c.1080C>T	c.(1078-1080)TTC>TTT	p.F360F	KLHDC7A_uc009vpg.2_Silent_p.F142F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	360	Kelch 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGAGGCTTCAGCCGGAAGG	0.692		NaN											0	0	0	0.00308	0	5	23				
UBR4	23352	broad.mit.edu	37	1	19494588	19494588	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:19494588G>T	uc001bbi.2	-	28	3836	c.3832C>A	c.(3832-3834)CTG>ATG	p.L1278M	UBR4_uc001bbm.1_Missense_Mutation_p.L489M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1278					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCAGGGGCAGACTTTGGCTA	0.512		NaN											1	0	6.05902e-23	0.003755	7.72123e-23	36	78				
CLIC4	25932	broad.mit.edu	37	1	25167380	25167380	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:25167380G>A	uc001bjo.2	+	6	999	c.714G>A	c.(712-714)AAG>AAA	p.K238K	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Silent_p.K218K	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	238	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCAGTGATAAGGAGGTTGAAA	0.398		NaN											0	0	0	0.004878	0	34	78				
FAM46B	115572	broad.mit.edu	37	1	27332842	27332842	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:27332842G>A	uc010ofj.1	-	2	1043	c.871C>T	c.(871-873)CGG>TGG	p.R291W		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	291										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGGGGCCGGAAGCCCCGC	0.677		NaN											0	0	0	0.00308	0	7	33				
TAF12	6883	broad.mit.edu	37	1	28931934	28931934	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:28931934C>T	uc001bqw.2	-	4	493	c.400G>A	c.(400-402)GAA>AAA	p.E134K	TAF12_uc001bqx.2_Missense_Mutation_p.E134K|TAF12_uc001bqy.2_Missense_Mutation_p.E134K|TAF12_uc009vti.2_Missense_Mutation_p.E134K	NM_005644	NP_005635	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding	134					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGGATTTCTTCAGAGCCAAAT	0.517		NaN											0	0	0	0.003271	0	35	88				
CCDC28B	79140	broad.mit.edu	37	1	32669900	32669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:32669900G>C	uc001bul.1	+	4	577	c.445G>C	c.(445-447)GAG>CAG	p.E149Q	CCDC28B_uc001buk.2_Missense_Mutation_p.E149Q|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	149											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAAGAGGAAGAGGATGGGGT	0.582		NaN											0	0	0	0.006214	0	9	55				
CSMD2	114784	broad.mit.edu	37	1	33985159	33985159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:33985159C>T	uc001bxn.1	-	69	10452	c.10423G>A	c.(10423-10425)GAG>AAG	p.E3475K	CSMD2_uc001bxm.1_Missense_Mutation_p.E3619K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3475	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTCCGCCTCGCTGGCCATG	0.612		NaN											0	0	0	0.002222	0	44	178				
CLSPN	63967	broad.mit.edu	37	1	36202663	36202663	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36202663G>C	uc001bzi.2	-	24	3841	c.3761C>G	c.(3760-3762)TCA>TGA	p.S1254*	CLSPN_uc009vux.2_Nonsense_Mutation_p.S1190*	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1254					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTAGCAGTGAGCCTGTCTT	0.463		NaN											0	0	0	0.001523	0	21	107				
MRPS15	64960	broad.mit.edu	37	1	36927747	36927747	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36927747C>T	uc001cas.2	-	3	357	c.193G>A	c.(193-195)GAT>AAT	p.D65N		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	65				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTGGGTCATCATCCAGCCTA	0.537		NaN											0	0	0	0.002096	0	31	39				
EPHA10	284656	broad.mit.edu	37	1	38192827	38192827	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:38192827G>A	uc009vvi.2	-	8	1805	c.1719C>T	c.(1717-1719)ATC>ATT	p.I573I	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	573	Helical; (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGGGCCGAGATGGTCACTA	0.637		NaN											0	0	0	0.001168	0	6	26				
KIAA0754	643314	broad.mit.edu	37	1	39879406	39879406	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:39879406G>A	uc009vvt.1	+	1	4231	c.3469G>A	c.(3469-3471)GCC>ACC	p.A1157T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	1021	Ala-rich.|12.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAATCCGCCTCCGCAGC	0.682		NaN											0	0	0	0.001168	0	6	33				
NT5C1A	84618	broad.mit.edu	37	1	40131848	40131848	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:40131848C>G	uc001cdq.1	-	2	196	c.196G>C	c.(196-198)GAG>CAG	p.E66Q		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	66					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCTCCTCGTCCATGCGA	0.582		NaN											0	0	0	0.001855	0	13	60				
KIAA0467	23334	broad.mit.edu	37	1	43896036	43896036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896036G>C	uc001cjk.1	+	16	2221	c.1759G>C	c.(1759-1761)GAG>CAG	p.E587Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1486						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGTTTTCAGAGGCTGAGCT	0.522		NaN											0	0	0	0.008361	0	27	59				
KIAA0467	23334	broad.mit.edu	37	1	43896196	43896196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896196G>T	uc001cjk.1	+	17	2275	c.1813G>T	c.(1813-1815)GAG>TAG	p.E605*		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1504						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTGGTCACTGAGAGTGACCC	0.562		NaN											1	0	4.22769e-11	0.00632	5.26178e-11	26	53				
KIAA0467	23334	broad.mit.edu	37	1	43905590	43905590	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43905590G>C	uc001cjk.1	+	36	4846	c.4384G>C	c.(4384-4386)GAA>CAA	p.E1462Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2361						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATGTGTGGGAAAAGGGGAA	0.577		NaN											0	0	0	0.007291	0	27	45				
KIAA0467	23334	broad.mit.edu	37	1	43908143	43908143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43908143G>C	uc001cjk.1	+	43	5770	c.5308G>C	c.(5308-5310)GAC>CAC	p.D1770H		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2669						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGGCTCCAGACCTGGGGGC	0.617		NaN											0	0	0	0.00333	0	24	55				
HECTD3	79654	broad.mit.edu	37	1	45472910	45472910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45472910C>T	uc009vxk.2	-	11	1635	c.1537G>A	c.(1537-1539)GAA>AAA	p.E513K	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.E123K|HECTD3_uc010olh.1_Missense_Mutation_p.E229K	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	513	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					AGGGGCTTTTCATATTTGTCA	0.413		NaN											0	0	0	0.00278	0	20	101				
ZSWIM5	57643	broad.mit.edu	37	1	45671765	45671765	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45671765G>T	uc001cnd.2	-	1	486	c.258C>A	c.(256-258)TTC>TTA	p.F86L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	86							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GGATCCGCTCGAAGCGCTCCT	0.627		NaN											1	0	5.16669e-11	0.000978	6.42489e-11	10	24				
CYP4A11	1579	broad.mit.edu	37	1	47399996	47399996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:47399996C>T	uc001cqp.3	-	8	991	c.940G>A	c.(940-942)GAG>AAG	p.E314K	CYP4A11_uc001cqq.2_Missense_Mutation_p.E314K|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	314					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	GTGTCCACCTCAGCACGGAGG	0.547		NaN											0	0	0	0.004656	0	16	24				
CYP4A22	284541	broad.mit.edu	37	1	47610264	47610264	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:47610264G>A	uc001cqv.1	+	8	991	c.940G>A	c.(940-942)GAG>AAG	p.E314K	CYP4A22_uc009vyo.2_Missense_Mutation_p.E314K|CYP4A22_uc009vyp.2_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	314						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						CCTCCGTGCTGAGGTGGACAC	0.552		NaN											0	0	0	0.003954	0	14	129				
NRD1	4898	broad.mit.edu	37	1	52283797	52283797	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:52283797G>C	uc001ctc.3	-	12	1828	c.1506C>G	c.(1504-1506)ATC>ATG	p.I502M	NRD1_uc009vzb.2_Missense_Mutation_p.I197M|NRD1_uc001ctd.3_Missense_Mutation_p.I434M|NRD1_uc001cte.2_Missense_Mutation_p.I370M|NRD1_uc001ctf.2_Missense_Mutation_p.I434M|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.I302M	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	433					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GAATTTTTCTGATTGGAACAA	0.323		NaN											0	0	0	0.00308	0	6	31				
USP24	23358	broad.mit.edu	37	1	55595217	55595217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:55595217C>T	uc001cyg.3	-	29	3088	c.3088G>A	c.(3088-3090)GAT>AAT	p.D1030N		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1190					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATGTCATCATCAGCTGTTGGC	0.398		NaN											0	0	0	0.004482	0	9	60				
RAVER2	55225	broad.mit.edu	37	1	65243754	65243754	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:65243754C>T	uc001dbs.1	+	3	843	c.765C>T	c.(763-765)GTC>GTT	p.V255V	RAVER2_uc001dbt.1_Silent_p.V134V|RAVER2_uc010opb.1_Silent_p.V134V	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TTTCCAGTGTCCATAAACCTG	0.318		NaN											0	0	0	0.00333	0	22	49				
MIER1	57708	broad.mit.edu	37	1	67436578	67436578	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:67436578G>A	uc001dde.2	+	9	994	c.860G>A	c.(859-861)AGA>AAA	p.R287K	MIER1_uc010opf.1_Missense_Mutation_p.R251K|MIER1_uc009way.2_Missense_Mutation_p.R251K|MIER1_uc001ddc.2_Missense_Mutation_p.R287K|MIER1_uc001ddh.2_Missense_Mutation_p.R171K|MIER1_uc001ddf.2_Missense_Mutation_p.R251K|MIER1_uc001ddg.2_Missense_Mutation_p.R207K|MIER1_uc010opg.1_Missense_Mutation_p.R251K|MIER1_uc001ddj.1_Missense_Mutation_p.R234K|MIER1_uc001ddi.2_Missense_Mutation_p.R234K	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	258	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GCATCTAGAAGAACAGGTGAT	0.358		NaN											0	0	0	0.003163	0	16	61				
PIGK	10026	broad.mit.edu	37	1	77627290	77627290	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:77627290C>G	uc001dhk.2	-	7	736	c.691G>C	c.(691-693)GAT>CAT	p.D231H	PIGK_uc010orj.1_Missense_Mutation_p.D155H|PIGK_uc009wbx.2_Missense_Mutation_p.D137H|PIGK_uc001dhl.1_Missense_Mutation_p.D231H	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	231	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						GAGAGTGAATCTTCTCCCACT	0.368		NaN											0	0	0	0.00245	0	14	65				
LPHN2	23266	broad.mit.edu	37	1	82409390	82409390	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:82409390G>A	uc001dit.3	+	6	1316	c.1135G>A	c.(1135-1137)GTG>ATG	p.V379M	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.V379M|LPHN2_uc001div.2_Missense_Mutation_p.V379M|LPHN2_uc009wcd.2_Missense_Mutation_p.V379M	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	379	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAACTTTACGTGTGGAACAA	0.408		NaN											0	0	0	0.00278	0	24	91				
RBMXL1	494115	broad.mit.edu	37	1	89449287	89449287	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89449287C>A	uc009wcx.2	-	3	939	c.223G>T	c.(223-225)GAT>TAT	p.D75Y	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.D75Y	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	75	RRM.						nucleotide binding|RNA binding				0						GCTTTTCCATCTAATGACTTT	0.478		NaN									OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.48254e-18	0.00361	3.14135e-18	53	169				
GBP3	2635	broad.mit.edu	37	1	89486323	89486323	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89486323G>T	uc001dmt.2	-	2	287	c.82C>A	c.(82-84)CTG>ATG	p.L28M	GBP3_uc010oss.1_Translation_Start_Site|GBP3_uc001dmu.2_Translation_Start_Site|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	28	Helical; (Potential).					integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGGATTTTCAGAGCTTCTGGA	0.517		NaN											1	0	6.05902e-23	0.003755	7.72123e-23	37	106				
TGFBR3	7049	broad.mit.edu	37	1	92184913	92184913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:92184913G>A	uc001doh.2	-	10	1988	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	TGFBR3_uc009wde.2_Missense_Mutation_p.R285W|TGFBR3_uc010osy.1_Missense_Mutation_p.R466W|TGFBR3_uc001doi.2_Missense_Mutation_p.R507W|TGFBR3_uc001doj.2_Missense_Mutation_p.R507W	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	508	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACCGGGGCCGAGTACCGCAG	0.547		NaN											0	0	0	0.002836	0	35	62				
EVI5	7813	broad.mit.edu	37	1	93091443	93091443	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:93091443C>T	uc001dox.2	-	13	1538	c.1528G>A	c.(1528-1530)GAA>AAA	p.E510K	EVI5_uc010otf.1_Missense_Mutation_p.E521K|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	510	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCAATGAGTTCTTCCTGAAGC	0.338		NaN											0	0	0	0.001786	0	31	46				
ARHGAP29	9411	broad.mit.edu	37	1	94655506	94655506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:94655506G>A	uc001dqj.3	-	13	1784	c.1415C>T	c.(1414-1416)TCA>TTA	p.S472L	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.S38L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	472					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTTCAGTTGAATTTGTGGC	0.368		NaN											0	0	0	0.000978	0	12	60				
SLC30A7	148867	broad.mit.edu	37	1	101387384	101387384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:101387384C>G	uc001dtn.2	+	8	1016	c.829C>G	c.(829-831)CTT>GTT	p.L277V	SLC30A7_uc001dto.2_Missense_Mutation_p.L277V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	277	Helical; (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TATAGCCATTCTTATAGTTGT	0.303		NaN											0	0	0	0.001855	0	13	80				
COL11A1	1301	broad.mit.edu	37	1	103478004	103478004	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:103478004C>T	uc001dul.2	-	14	1912	c.1594G>A	c.(1594-1596)GGC>AGC	p.G532S	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G544S|COL11A1_uc001dun.2_Missense_Mutation_p.G493S|COL11A1_uc009weh.2_Missense_Mutation_p.G416S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	532	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCATTGGGCCAGGTGGGCCT	0.388		NaN											0	0	0	0.008291	0	9	24				
EPS8L3	79574	broad.mit.edu	37	1	110301959	110301959	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:110301959C>T	uc001dyr.1	-	5	451	c.306G>A	c.(304-306)GCG>GCA	p.A102A	EPS8L3_uc001dys.1_Silent_p.A102A|EPS8L3_uc001dyq.1_Silent_p.A102A|EPS8L3_uc009wfm.1_Silent_p.A68A|EPS8L3_uc009wfn.1_Silent_p.A68A|EPS8L3_uc009wfo.1_Silent_p.A49A	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	102						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ATGTGTTGAGCGCCACATTCA	0.607		NaN											0	0	0	0.00361	0	68	144				
CHIA	27159	broad.mit.edu	37	1	111854934	111854934	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:111854934G>A	uc001eas.2	+	4	281	c.178G>A	c.(178-180)GGG>AGG	p.G60R	CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	60					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGCCTTTGCTGGGAGGCAGAA	0.522		NaN											0	0	0	0.00245	0	14	119				
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:112309338G>C	uc001ebs.2	+	11	2649	c.2292G>C	c.(2290-2292)CTG>CTC	p.L764L	DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453		NaN											0	0	0	0.001984	0	5	55				
ST7L	54879	broad.mit.edu	37	1	113159453	113159453	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:113159453C>T	uc001ecd.2	-	2	575	c.270G>A	c.(268-270)TTG>TTA	p.L90L	ST7L_uc001ecc.2_5'UTR|ST7L_uc010owg.1_Silent_p.L90L|ST7L_uc010owh.1_Silent_p.L90L|ST7L_uc001ece.2_Silent_p.L90L|ST7L_uc001ecf.2_Silent_p.L73L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Silent_p.L25L|ST7L_uc001ech.2_Silent_p.L73L|ST7L_uc001eci.2_Silent_p.L90L|ST7L_uc009wgi.1_Intron|ST7L_uc010owj.1_Silent_p.L73L|CAPZA1_uc001ecj.1_5'Flank	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	90	Helical; (Potential).				negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTGATATCAATGAAGAGG	0.264		NaN											0	0	0	0.000978	0	10	105				
AMPD1	270	broad.mit.edu	37	1	115236063	115236063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:115236063C>A	uc001efe.1	-	2	112	c.28G>T	c.(28-30)GAG>TAG	p.E10*	AMPD1_uc001eff.1_Intron	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	10					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACGTTTCTCTTCAGCTGTA	0.323		NaN											1	0	1.64293e-13	0.00333	2.05545e-13	22	75				
ATP1A1	476	broad.mit.edu	37	1	116935566	116935566	+	Missense_Mutation	SNP	G	G	A	rs148719009		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:116935566G>A	uc001ege.2	+	11	1762	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	ATP1A1_uc010owv.1_Missense_Mutation_p.A444T|ATP1A1_uc010oww.1_Missense_Mutation_p.A475T|ATP1A1_uc010owx.1_Missense_Mutation_p.A444T|C1orf203_uc009whb.2_RNA	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	475	Cytoplasmic (Potential).			A -> T (in Ref. 12; CAA27390).	ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGAAAGATACGCCAAAATCGT	0.537		NaN											0	0	0	0.003163	0	14	109				
NOTCH2	4853	broad.mit.edu	37	1	120461054	120461054	+	Silent	SNP	C	C	T	rs149442704		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:120461054C>T	uc001eik.2	-	32	6160	c.5904G>A	c.(5902-5904)GCG>GCA	p.A1968A		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1968	Cytoplasmic (Potential).|ANK 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCACATCCGCTTGGCAGT	0.527		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.001368	0	11	104				
NBPF10	100132406	broad.mit.edu	37	1	145293519	145293519	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145293519C>G	uc001end.3	+	1	149	c.114C>G	c.(112-114)CTC>CTG	p.L38L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L38L|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Silent_p.L38L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	38											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCAGAAACCTCAAAGAGAAAT	0.473		NaN											0	0	0	0.00361	0	49	568				
TXNIP	10628	broad.mit.edu	37	1	145440314	145440314	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145440314G>T	uc001enn.3	+	5	961	c.620G>T	c.(619-621)CGA>CTA	p.R207L	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R152L	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	207					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATGTTCCCGAATTGTGGTC	0.453		NaN											1	0	1.43246e-33	0.007835	1.83193e-33	40	84		Valid		
ANKRD34A	284615	broad.mit.edu	37	1	145473774	145473774	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145473774C>T	uc001enq.1	+	4	1739	c.446C>T	c.(445-447)TCG>TTG	p.S149L	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	149											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGATACCTCGCCCTCAGGC	0.652		NaN											0	0	0	0.008291	0	11	47				
BCL9	607	broad.mit.edu	37	1	147096327	147096327	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:147096327G>A	uc001epq.2	+	10	4588	c.3848G>A	c.(3847-3849)AGA>AAA	p.R1283K	BCL9_uc010ozr.1_Missense_Mutation_p.R1197K	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1283	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CAAGCCCCCAGAATGGGACTA	0.587		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.004482	0	9	44				
HIST2H2BE	8349	broad.mit.edu	37	1	149858021	149858021	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:149858021G>A	uc001etc.2	-	1	212	c.170C>T	c.(169-171)TCC>TTC	p.S57F	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATGGCCTTGGACGAGATGCC	0.587		NaN											0	0	0	0.00361	0	82	172				
ANXA9	8416	broad.mit.edu	37	1	150960575	150960575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:150960575C>T	uc001ewa.2	+	11	1176	c.706C>T	c.(706-708)CAG>TAG	p.Q236*		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	236	Annexin 3.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTTTGATCAGTACCAGCG	0.557		NaN											0	0	0	0.00333	0	20	48				
ZNF687	57592	broad.mit.edu	37	1	151261860	151261860	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151261860C>T	uc001exq.2	+	5	2576	c.2478C>T	c.(2476-2478)ATC>ATT	p.I826I	ZNF687_uc009wmo.2_Silent_p.I826I|ZNF687_uc009wmp.2_Silent_p.I826I	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGCTGATCTACAAGTGCG	0.622		NaN											0	0	0	0.002852	0	41	94				
ZNF687	57592	broad.mit.edu	37	1	151262612	151262612	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262612C>A	uc001exq.2	+	7	3077	c.2979C>A	c.(2977-2979)TTC>TTA	p.F993L	ZNF687_uc009wmo.2_Missense_Mutation_p.F993L|ZNF687_uc009wmp.2_Missense_Mutation_p.F993L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	993	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAAAAGTTCCCCTGTCGCC	0.612		NaN											1	0	5.8336e-16	0.003271	7.33658e-16	14	95				
ZNF687	57592	broad.mit.edu	37	1	151262619	151262619	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262619C>A	uc001exq.2	+	7	3084	c.2986C>A	c.(2986-2988)CGC>AGC	p.R996S	ZNF687_uc009wmo.2_Missense_Mutation_p.R996S|ZNF687_uc009wmp.2_Missense_Mutation_p.R996S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	996	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCCTGTCGCCTGTGTGA	0.592		NaN											1	0	1.90571e-15	0.004289	2.39461e-15	13	94				
ZNF687	57592	broad.mit.edu	37	1	151262635	151262635	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262635C>T	uc001exq.2	+	7	3100	c.3002C>T	c.(3001-3003)TCC>TTC	p.S1001F	ZNF687_uc009wmo.2_Missense_Mutation_p.S1001F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1001F	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1001	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGAGCGCTCCTTCTGCTCC	0.597		NaN											0	0	0	0.003271	0	13	95				
ZNF687	57592	broad.mit.edu	37	1	151262637	151262637	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262637T>C	uc001exq.2	+	7	3102	c.3004T>C	c.(3004-3006)TTC>CTC	p.F1002L	ZNF687_uc009wmo.2_Missense_Mutation_p.F1002L|ZNF687_uc009wmp.2_Missense_Mutation_p.F1002L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1002	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGCGCTCCTTCTGCTCCGC	0.592		NaN											0	0	0	0.003755	0	13	96				
ZNF687	57592	broad.mit.edu	37	1	151263516	151263516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151263516C>G	uc001exq.2	+	9	3643	c.3545C>G	c.(3544-3546)TCA>TGA	p.S1182*	ZNF687_uc009wmo.2_Nonsense_Mutation_p.S1182*|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCTCCATCAAGGTCTGAC	0.617		NaN											0	0	0	0.003954	0	24	59				
TCHHL1	126637	broad.mit.edu	37	1	152058710	152058710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152058710C>T	uc001ezo.1	-	3	1513	c.1448G>A	c.(1447-1449)AGC>AAC	p.S483N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	483							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCGTTTTTGCTGTTCACAAA	0.483		NaN											0	0	0	0.00361	0	98	225				
LCE2B	26239	broad.mit.edu	37	1	152659594	152659594	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152659594G>C	uc001fai.2	+	2	329	c.275G>C	c.(274-276)TGT>TCT	p.C92S		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	92	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGACTGCTGTGAGAGTGAA	0.632		NaN											0	0	0	0.003271	0	35	108				
ADAR	103	broad.mit.edu	37	1	154574803	154574803	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:154574803C>G	uc001ffh.2	-	2	515	c.315G>C	c.(313-315)CAG>CAC	p.Q105H	ADAR_uc001ffj.2_Missense_Mutation_p.Q105H|ADAR_uc001ffi.2_Missense_Mutation_p.Q105H|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	105					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGAACCCTCTCTGGAGCCCCT	0.557		NaN											0	0	0	0.002836	0	34	61				
RAG1AP1	55974	broad.mit.edu	37	1	155109406	155109406	+	Silent	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155109406T>C	uc001fhj.3	+	3	361	c.261T>C	c.(259-261)TAT>TAC	p.Y87Y	RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Intron|RAG1AP1_uc001fhl.3_Silent_p.Y87Y	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	recombination activating gene 1 activating	87	Helical; Name=3; (Potential).|MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTTGGCATATCTGCATTACT	0.562		NaN											0	0	0	0.000602	0	5	78				
ASH1L	55870	broad.mit.edu	37	1	155313492	155313492	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155313492C>T	uc009wqq.2	-	23	8518	c.8038G>A	c.(8038-8040)GAT>AAT	p.D2680N	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2675N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2680	BAH.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGTGGCCATCAGGGGTGCGC	0.438		NaN											0	0	0	0.001984	0	7	64				
GON4L	54856	broad.mit.edu	37	1	155796774	155796774	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155796774G>A	uc001flz.2	-	3	648	c.551C>T	c.(550-552)TCA>TTA	p.S184L	GON4L_uc001fly.1_Missense_Mutation_p.S184L|GON4L_uc009wrh.1_Missense_Mutation_p.S184L|GON4L_uc001fma.1_Missense_Mutation_p.S184L|GON4L_uc001fmc.2_Missense_Mutation_p.S184L|GON4L_uc001fmd.3_Missense_Mutation_p.S184L|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.S12L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	184					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGCTGCCTGATGGCAGGGA	0.473		NaN											0	0	0	0.001855	0	13	72				
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156126258G>C	uc001fnl.2	+	3	297	c.193G>C	c.(193-195)GAC>CAC	p.D65H	SEMA4A_uc009wrq.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.D65H	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	65	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542		NaN											0	0	0	0.008361	0	28	60				
BCAN	63827	broad.mit.edu	37	1	156617443	156617443	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156617443G>C	uc001fpp.2	+	4	946	c.610G>C	c.(610-612)GAT>CAT	p.D204H	BCAN_uc001fpo.2_Missense_Mutation_p.D204H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	204	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCAATGTGATGCTGGCTG	0.647		NaN											0	0	0	0.007413	0	17	122				
ARHGEF11	9826	broad.mit.edu	37	1	156912573	156912573	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156912573C>G	uc001fqo.2	-	32	4156	c.3116_splice	c.e32-1	p.D1039_splice	ARHGEF11_uc010phu.1_Splice_Site_p.D455_splice|ARHGEF11_uc001fqn.2_Splice_Site_p.D1079_splice	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCGTTTATCTGTGTGAGGA	0.542		NaN											0	0	0	0.006999	0	38	54				
FCRL5	83416	broad.mit.edu	37	1	157514314	157514314	+	Silent	SNP	C	C	T	rs112294248		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:157514314C>T	uc001fqu.2	-	5	740	c.582G>A	c.(580-582)CTG>CTA	p.L194L	FCRL5_uc009wsm.2_Silent_p.L194L|FCRL5_uc010phv.1_Silent_p.L194L|FCRL5_uc010phw.1_Silent_p.L109L|FCRL5_uc001fqv.1_Silent_p.L194L|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	194	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTGGCTCTCAGCACTGGAC	0.557		NaN											0	0	0	0.00623	0	35	71				
OR10J3	441911	broad.mit.edu	37	1	159284102	159284102	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:159284102G>A	uc010piu.1	-	1	348	c.348C>T	c.(346-348)CTC>CTT	p.L116L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					CCATGACTGTGAGCAGGAAGC	0.507		NaN											0	0	0	0.004007	0	15	79				
ATP1A4	480	broad.mit.edu	37	1	160136489	160136489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:160136489G>T	uc001fve.3	+	8	1698	c.1219G>T	c.(1219-1221)GAG>TAG	p.E407*	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	407	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGTGTATGAGGCCGACAC	0.552		NaN											1	0	1.76689e-08	0.006214	2.15438e-08	10	71				
PVRL4	81607	broad.mit.edu	37	1	161046192	161046192	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:161046192G>C	uc001fxo.2	-	4	1103	c.804C>G	c.(802-804)CTC>CTG	p.L268L	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.L2L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	268	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCAGGCACTTGAGCATAGCTC	0.562		NaN											0	0	0	0.004482	0	9	49				
UHMK1	127933	broad.mit.edu	37	1	162468057	162468057	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:162468057C>T	uc001gcc.1	+	1	403	c.267C>T	c.(265-267)ATC>ATT	p.I89I	UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.I89I	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	89	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACAGAAACATCGGTAATTGCC	0.607		NaN											0	0	0	0.001168	0	4	22				
FAM78B	149297	broad.mit.edu	37	1	166039523	166039523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166039523C>T	uc001gdr.2	-	3	1331	c.741G>A	c.(739-741)TGG>TGA	p.W247*	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	247										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCTTGGGCCTCCACATGAGGA	0.592		NaN											0	0	0	0.00333	0	24	106				
TADA1	117143	broad.mit.edu	37	1	166845422	166845422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166845422C>A	uc001gdw.2	-	1	233	c.49G>T	c.(49-51)GAG>TAG	p.E17*	TADA1_uc009wve.2_Nonsense_Mutation_p.E17*	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	17					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						CCCAGGGCCTCGCTTAAGTTC	0.667		NaN											1	0	2.74318e-10	0.006214	3.39654e-10	9	47				
ADCY10	55811	broad.mit.edu	37	1	167871010	167871010	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:167871010C>T	uc001ger.2	-	5	624	c.326G>A	c.(325-327)CGA>CAA	p.R109Q	ADCY10_uc009wvk.2_Missense_Mutation_p.R17Q|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.R108Q|ADCY10_uc009wvm.2_Intron	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	109	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CAGCTGCTTTCGCTCCACCCT	0.493		NaN											0	0	0	0.004656	0	26	140				
GPR161	23432	broad.mit.edu	37	1	168054780	168054780	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:168054780C>T	uc001gfc.2	-	8	1893	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K	GPR161_uc001gfb.2_Missense_Mutation_p.E395K|GPR161_uc010pll.1_Missense_Mutation_p.E437K|GPR161_uc010plm.1_Missense_Mutation_p.E413K|GPR161_uc009wvo.2_Missense_Mutation_p.E544K|GPR161_uc001gfd.2_Missense_Mutation_p.E527K|GPR161_uc010pln.1_Missense_Mutation_p.E547K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	527	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					CATCTCTGCTCGGCAGCTAAA	0.667		NaN											0	0	0	0.004007	0	17	81				
FMO1	2326	broad.mit.edu	37	1	171251468	171251468	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:171251468G>C	uc009wvz.2	+	7	1315	c.1179G>C	c.(1177-1179)CTG>CTC	p.L393L	FMO1_uc010pme.1_Silent_p.L330L|FMO1_uc001ghl.2_Silent_p.L393L|FMO1_uc001ghm.2_Silent_p.L393L|FMO1_uc001ghn.2_Silent_p.L393L	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	393					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCGAGTCCTGAAAGGTAAGT	0.448		NaN											0	0	0	0.001984	0	7	51				
ACBD6	84320	broad.mit.edu	37	1	180283851	180283851	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:180283851C>G	uc001gog.2	-	7	1291	c.670G>C	c.(670-672)GAA>CAA	p.E224Q		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	224	ANK 2.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						GTTTGGCCTTCATTGTCCTAT	0.239		NaN											0	0	0	0.000978	0	11	77				
C1orf14	81626	broad.mit.edu	37	1	182921966	182921966	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:182921966C>G	uc001gpu.2	-	1	588	c.303G>C	c.(301-303)GAG>GAC	p.E101D	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	173											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		GCTGCGCCTCCTCTTCATCCT	0.602		NaN											0	0	0	0.000978	0	9	22				
TPR	7175	broad.mit.edu	37	1	186322927	186322927	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:186322927G>A	uc001grv.2	-	18	2524	c.2227C>T	c.(2227-2229)CAT>TAT	p.H743Y		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	743	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCTCTCATGAAGTGATGTT	0.353		NaN	T	NTRK1	papillary thyroid								0	0	0	0.001368	0	13	98				
KCNT2	343450	broad.mit.edu	37	1	196251455	196251455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196251455G>C	uc001gtd.1	-	24	2789	c.2729C>G	c.(2728-2730)ACG>AGG	p.T910R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T836R|KCNT2_uc001gtf.1_Missense_Mutation_p.T886R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T886R|KCNT2_uc001gth.1_Missense_Mutation_p.T407R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	910	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CAGAAGTCTCGTGATAGAAAT	0.303		NaN											0	0	0	0.00308	0	6	52				
CFHR1	3078	broad.mit.edu	37	1	196797272	196797272	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196797272C>T	uc001gtn.2	+	4	617	c.503C>T	c.(502-504)TCT>TTT	p.S168F	CFHR1_uc001gtm.2_Missense_Mutation_p.S72F	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	168	Sushi 3.				complement activation	extracellular space					0						AAATATCCATCTGGTGAGAGA	0.413		NaN											0	0	0	0.006122	0	17	26				
DDX59	83479	broad.mit.edu	37	1	200617569	200617569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200617569G>C	uc009wzk.2	-	7	1837	c.1594C>G	c.(1594-1596)CAG>GAG	p.Q532E	DDX59_uc010ppl.1_Missense_Mutation_p.Q532E	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	532	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CTCCTTACCTGATGGACATAC	0.398		NaN											0	0	0	0.00632	0	26	54				
KIF21B	23046	broad.mit.edu	37	1	200967564	200967564	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200967564C>G	uc001gvs.1	-	14	2342	c.2025G>C	c.(2023-2025)CAG>CAC	p.Q675H	KIF21B_uc001gvr.1_Missense_Mutation_p.Q675H|KIF21B_uc009wzl.1_Missense_Mutation_p.Q675H|KIF21B_uc010ppn.1_Missense_Mutation_p.Q675H	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	675	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GGATCTTGTTCTGCAGCAGAA	0.582		NaN											0	0	0	0.001786	0	28	130				
ELF3	1999	broad.mit.edu	37	1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981484C>T	uc001gxg.3	+	3	3590	c.398C>T	c.(397-399)TCT>TTT	p.S133F	ELF3_uc001gxi.3_Missense_Mutation_p.S133F|ELF3_uc001gxh.3_Missense_Mutation_p.S133F	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TCCAGCTCTTCTGATGAGCTC	0.582		NaN											0	0	0	0.004656	0	24	132		Valid		
ELF3	1999	broad.mit.edu	37	1	201981809	201981809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981809C>T	uc001gxg.3	+	4	3712	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	ELF3_uc001gxi.3_Nonsense_Mutation_p.Q174*|ELF3_uc001gxh.3_Nonsense_Mutation_p.Q174*	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	174					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						GGACGACGGTCAGCAAGCCAG	0.667		NaN											0	0	0	0.004007	0	16	77		Valid		
LAX1	54900	broad.mit.edu	37	1	203734754	203734754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:203734754C>G	uc001haa.2	+	1	471	c.61C>G	c.(61-63)CTG>GTG	p.L21V	LAX1_uc010pql.1_Intron	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	21	Extracellular (Potential).				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCAGCACTCTGCATGTGAC	0.557		NaN											0	0	0	0.001984	0	6	36				
PIK3C2B	5287	broad.mit.edu	37	1	204438482	204438482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204438482G>C	uc001haw.2	-	3	928	c.449C>G	c.(448-450)TCT>TGT	p.S150C	PIK3C2B_uc010pqv.1_Missense_Mutation_p.S150C|PIK3C2B_uc001hax.1_Missense_Mutation_p.S150C|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	150	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTCTTGCAAGAGCCCTCTAT	0.577		NaN											0	0	0	0.001168	0	6	68				
NFASC	23114	broad.mit.edu	37	1	204942505	204942505	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204942505G>A	uc001hbj.2	+	12	1565	c.1237G>A	c.(1237-1239)GAG>AAG	p.E413K	NFASC_uc001hbh.2_Missense_Mutation_p.E413K|NFASC_uc010pqz.1_Missense_Mutation_p.E407K|NFASC_uc010pra.1_Missense_Mutation_p.E424K|NFASC_uc001hbi.2_Missense_Mutation_p.E424K|NFASC_uc009xbg.1_Missense_Mutation_p.E497K|NFASC_uc010prb.1_Missense_Mutation_p.E424K|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.E234K	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	413	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCCAACGAGCATGGCTA	0.607		NaN											0	0	0	0.004007	0	16	37				
ELK4	2005	broad.mit.edu	37	1	205589767	205589767	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205589767G>T	uc001hcy.1	-	3	1657	c.407C>A	c.(406-408)TCT>TAT	p.S136Y	ELK4_uc001hcz.2_Missense_Mutation_p.S136Y	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	136						cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATTGCGGCTAGAGGTCTTGGC	0.418		NaN	T	SLC45A3	prostate								1	0	2.74318e-10	0.006214	3.39654e-10	10	107				
SLC45A3	85414	broad.mit.edu	37	1	205628644	205628644	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205628644G>C	uc001hda.1	-	5	1719	c.1380C>G	c.(1378-1380)CTC>CTG	p.L460L	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	460					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCCCCGCAGAGCGCGGGTG	0.677		NaN	T	ETV1|ETV5|ELK4|ERG	prostate 						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	24				
SLC26A9	115019	broad.mit.edu	37	1	205892252	205892252	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205892252C>T	uc001hdq.2	-	16	1845	c.1731G>A	c.(1729-1731)ATG>ATA	p.M577I	SLC26A9_uc001hdo.2_Missense_Mutation_p.M245I|SLC26A9_uc001hdp.2_Missense_Mutation_p.M577I	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	577	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTGTGGGCCTCATTCTCCGCT	0.522		NaN											0	0	0	0.003954	0	23	101				
IKBKE	9641	broad.mit.edu	37	1	206652436	206652436	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206652436C>G	uc001hdz.1	+	10	1511	c.1143C>G	c.(1141-1143)CTC>CTG	p.L381L	IKBKE_uc009xbv.1_Silent_p.L381L|IKBKE_uc001hea.1_Silent_p.L296L	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	381					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CCCTGACCCTCTTCAGCACAG	0.607		NaN											0	0	0	0.004007	0	17	43				
LGTN	1939	broad.mit.edu	37	1	206772966	206772966	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206772966C>T	uc001heh.2	-	10	1262	c.1053G>A	c.(1051-1053)AGG>AGA	p.R351R	LGTN_uc009xbw.2_Silent_p.R227R	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	351					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGATGTAATCCTAAAACCCA	0.532		NaN											0	0	0	0.00245	0	13	76				
IRF6	3664	broad.mit.edu	37	1	209974644	209974644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974644G>C	uc001hhq.1	-	3	378	c.115C>G	c.(115-117)CCC>GCC	p.P39A	IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.P39A	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	39	IRF tryptophan pentad repeat.		P -> A (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTTCCAGGGAATCTGGAAG	0.512		NaN								HNSCC(57;0.16)			0	0	0	0.004007	0	15	120				
IRF6	3664	broad.mit.edu	37	1	209974759	209974759	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974759G>C	uc001hhq.1	-	3	263	c.0C>G	c.(-2-2)ATCAT>ATGAT		IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Translation_Start_Site	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGAGGGCCATGATCTGGGGGG	0.592		NaN								HNSCC(57;0.16)			0	0	0	0.008291	0	9	98				
SMYD2	56950	broad.mit.edu	37	1	214505378	214505378	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:214505378G>A	uc010ptx.1	+	10	988	c.955G>A	c.(955-957)GAG>AAG	p.E319K	SMYD2_uc009xdj.2_3'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_Intron	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	319					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGAGCTGCTGGAGATCTGCGA	0.562		NaN									OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	7	38				
DUSP10	11221	broad.mit.edu	37	1	221876002	221876002	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:221876002C>G	uc001hmy.1	-	4	1383	c.1201G>C	c.(1201-1203)GGG>CGG	p.G401R	DUSP10_uc001hmx.1_Missense_Mutation_p.G59R|DUSP10_uc001hmz.1_Missense_Mutation_p.G59R	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	401	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		AGCCCCTTCCCACACTGGTGA	0.522		NaN											0	0	0	0.003163	0	14	42				
MIA3	375056	broad.mit.edu	37	1	222826446	222826446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:222826446C>T	uc001hnl.2	+	14	4192	c.4183C>T	c.(4183-4185)CTT>TTT	p.L1395F	MIA3_uc009xea.1_Missense_Mutation_p.L1172F|MIA3_uc001hnm.2_Missense_Mutation_p.L273F	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1395	Potential.|Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGTAGCTCTTACTCACAA	0.348		NaN											0	0	0	0.000248	0	4	48				
CABC1	56997	broad.mit.edu	37	1	227149128	227149128	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227149128C>T	uc001hqm.1	+	7	3461	c.42C>T	c.(40-42)GGC>GGT	p.G14G	CABC1_uc010pvp.1_5'UTR|CABC1_uc001hqn.1_Silent_p.G14G|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	14					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				TGGCTAAAGGCCTTGTCAAGC	0.642		NaN											0	0	0	0.001168	0	6	92				
SNAP47	116841	broad.mit.edu	37	1	227923158	227923158	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227923158G>A	uc001hrf.2	+	1	462	c.48G>A	c.(46-48)CCG>CCA	p.P16P	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P16P|SNAP47_uc001hre.2_5'UTR|JMJD4_uc001hrc.2_5'Flank|JMJD4_uc001hrb.2_5'Flank	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	16						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						CCGAGCGGCCGAGGCGCCGCG	0.761		NaN											0	0	0	0.004672	0	3	5				
C1orf35	79169	broad.mit.edu	37	1	228290054	228290054	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:228290054C>G	uc001hrx.2	-	5	498	c.404G>C	c.(403-405)CGA>CCA	p.R135P	C1orf35_uc009xew.2_RNA	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	135											0		Prostate(94;0.0488)				CTTGTCCTCTCGGGACATCGC	0.692		NaN											0	0	0	0.000602	0	4	18				
PCNXL2	80003	broad.mit.edu	37	1	233314877	233314877	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:233314877G>A	uc001hvl.2	-	16	3346	c.3111C>T	c.(3109-3111)TTC>TTT	p.F1037F	PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1037	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGGCCACAGAAGGCCGAAA	0.512		NaN											0	0	0	0.001368	0	10	57				
IRF2BP2	359948	broad.mit.edu	37	1	234744657	234744657	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:234744657G>A	uc001hwg.2	-	1	615	c.584C>T	c.(583-585)TCG>TTG	p.S195L	IRF2BP2_uc009xfw.2_5'Flank|IRF2BP2_uc001hwf.2_Missense_Mutation_p.S195L	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	195	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGGCGTGGCCGAGCCGTTCAT	0.766		NaN											0	0	0	0.001984	0	7	15				
RYR2	6262	broad.mit.edu	37	1	237819236	237819236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:237819236C>T	uc001hyl.1	+	53	8201	c.8081C>T	c.(8080-8082)TCA>TTA	p.S2694L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2694	Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGTCATCAATGGATTCT	0.413		NaN											0	0	0	0.008291	0	10	23				
CNST	163882	broad.mit.edu	37	1	246811273	246811273	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246811273G>A	uc001ibp.2	+	9	2148	c.1770G>A	c.(1768-1770)GAG>GAA	p.E590E	CNST_uc001ibo.3_Silent_p.E590E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	590					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						GTCTCCAGGAGAATCTGCCTT	0.403		NaN											0	0	0	0.001786	0	31	85				
SCCPDH	51097	broad.mit.edu	37	1	246923504	246923504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246923504C>G	uc001ibr.2	+	9	1312	c.965C>G	c.(964-966)TCA>TGA	p.S322*		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	322						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTATTTTTCAAAACAAGGC	0.299		NaN											0	0	0	0.005443	0	23	38				
OR6F1	343169	broad.mit.edu	37	1	247875277	247875277	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:247875277G>A	uc001idj.1	-	1	781	c.781C>T	c.(781-783)CGC>TGC	p.R261C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATAGAGGTGCGGACGTGAAGG	0.522		NaN											0	0	0	0.00245	0	15	71				
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:248458107C>T	uc010pzj.1	-	1	774	c.774G>A	c.(772-774)ATG>ATA	p.M258I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483		NaN											0	0	0	0.003954	0	27	126				
OPTN	10133	broad.mit.edu	37	10	13154581	13154581	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:13154581C>G	uc001ilu.1	+	6	936	c.498C>G	c.(496-498)CTC>CTG	p.L166L	OPTN_uc001ilv.1_Silent_p.L166L|OPTN_uc001ilw.1_Silent_p.L166L|OPTN_uc001ilx.1_Silent_p.L166L|OPTN_uc001ily.1_Silent_p.L166L|OPTN_uc010qbr.1_Silent_p.L109L|OPTN_uc001ilz.1_Silent_p.L166L	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	166	Interaction with Rab8.|Potential.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2						AACTGCAGCTCAAGCTGAACT	0.498		NaN											0	0	0	0.002096	0	28	88				
ACBD7	414149	broad.mit.edu	37	10	15121001	15121001	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:15121001C>T	uc001inv.2	-	2	99	c.51G>A	c.(49-51)CTG>CTA	p.L17L	ACBD7_uc010qby.1_5'UTR	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	acyl-Coenzyme A binding domain containing 7	17	ACB.						fatty-acyl-CoA binding				0						GTCTTGCTTTCAGCTTCCTCA	0.358		NaN											0	0	0	0.007835	0	33	93				
MLLT10	8028	broad.mit.edu	37	10	22002839	22002839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:22002839C>T	uc001iqs.2	+	15	2234	c.1886C>T	c.(1885-1887)TCA>TTA	p.S629L	MLLT10_uc001iqt.2_Missense_Mutation_p.S613L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S613L|MLLT10_uc001ira.2_Missense_Mutation_p.S70L|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	629	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						CTCTCTCCCTCAGCTGTGTCA	0.473		NaN	T	MLL|PICALM|CDK6	AL								0	0	0	0.001523	0	20	78				
C10orf67	256815	broad.mit.edu	37	10	23611391	23611391	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:23611391C>G	uc010qcx.1	-	3	472	c.406G>C	c.(406-408)GAG>CAG	p.E136Q		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	hypothetical protein LOC256815	136											0						AAAGATTCCTCTTTCAGTCGG	0.328		NaN											0	0	0	0.006122	0	16	103				
SVIL	6840	broad.mit.edu	37	10	29820964	29820964	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:29820964G>T	uc001iut.1	-	9	2729	c.1976C>A	c.(1975-1977)CCT>CAT	p.P659H	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	659					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGAAGTTATAGGTTGGGTTCT	0.488		NaN											1	0	1.15919e-05	0.008871	1.39568e-05	18	139				
ZNF33A	7581	broad.mit.edu	37	10	38306269	38306269	+	Missense_Mutation	SNP	G	G	A	rs582502		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:38306269G>A	uc001izh.2	+	4	383	c.205G>A	c.(205-207)GAG>AAG	p.E69K	ZNF33A_uc001izg.2_Missense_Mutation_p.E69K|ZNF33A_uc010qev.1_Missense_Mutation_p.E76K|ZNF33A_uc001izi.1_Missense_Mutation_p.E69K|ZNF33A_uc001izj.2_RNA	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						ACAAGGAGAAGAGCCATGGAA	0.433		NaN											0	0	0	0.00361	0	54	143				
ZNF33B	7582	broad.mit.edu	37	10	43089326	43089326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43089326G>A	uc001jaf.1	-	5	1187	c.1072C>T	c.(1072-1074)CAA>TAA	p.Q358*	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q246*|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	358	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGATTACATTGAAAGTGTTTC	0.418		NaN											0	0	0	0.007835	0	42	104				
RET	5979	broad.mit.edu	37	10	43601965	43601965	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43601965G>A	uc001jal.2	+	5	1199	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	RET_uc001jak.1_Missense_Mutation_p.E337K|RET_uc010qez.1_Missense_Mutation_p.E83K	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	337	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGGCCCAACGAGACCTCGGT	0.652		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	0.008291	0	11	20				
ALOX5	240	broad.mit.edu	37	10	45877975	45877975	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:45877975C>T	uc001jce.2	+	2	294	c.195C>T	c.(193-195)ATC>ATT	p.I65I	ALOX5_uc009xmt.2_Silent_p.I65I|ALOX5_uc010qfg.1_Silent_p.I65I	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	65	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGGCGAGATCCAGCTGGTCA	0.547		NaN											0	0	0	0.007413	0	17	53				
ERCC6	2074	broad.mit.edu	37	10	50690842	50690842	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:50690842G>C	uc001jhs.3	-	10	2214	c.2060C>G	c.(2059-2061)TCG>TGG	p.S687W	ERCC6_uc010qgr.1_Missense_Mutation_p.S57W|ERCC6_uc001jhr.3_Missense_Mutation_p.S87W	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	687	Helicase ATP-binding.		S -> L (in CSB).		base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GTCAAAGAGCGACCACAGCTC	0.483		NaN						Direct_reversal_of_damage|NER					0	0	0	0.004878	0	35	64				
TFAM	7019	broad.mit.edu	37	10	60145995	60145995	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:60145995G>A	uc001jkf.2	+	2	249	c.117G>A	c.(115-117)CCG>CCA	p.P39P	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.P39P	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	39					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TGTATTTACCGAGGTGGTTTT	0.338		NaN											0	0	0	0.007291	0	27	70				
MYPN	84665	broad.mit.edu	37	10	69926110	69926110	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:69926110G>A	uc001jnm.3	+	11	1845	c.1660G>A	c.(1660-1662)GCA>ACA	p.A554T	MYPN_uc001jnl.1_Missense_Mutation_p.A554T|MYPN_uc001jnn.3_Missense_Mutation_p.A279T|MYPN_uc001jno.3_Missense_Mutation_p.A554T|MYPN_uc009xps.2_Missense_Mutation_p.A554T|MYPN_uc009xpt.2_Missense_Mutation_p.A554T|MYPN_uc010qit.1_Missense_Mutation_p.A260T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	554						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CACCAACCTGGCAGCTATTGA	0.552		NaN											0	0	0	0.001855	0	11	56				
TET1	80312	broad.mit.edu	37	10	70412289	70412289	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412289G>A	uc001jok.3	+	6	4904	c.4399G>A	c.(4399-4401)GAA>AAA	p.E1467K		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1467					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AATAAGGATAGAAATAGTAGT	0.363		NaN											0	0	0	0.00278	0	19	46				
TET1	80312	broad.mit.edu	37	10	70412337	70412337	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412337C>G	uc001jok.3	+	6	4952	c.4447C>G	c.(4447-4449)CCA>GCA	p.P1483A		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1483					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TCATGGGTGTCCAATTGCTAA	0.348		NaN											0	0	0	0.001855	0	12	46				
DDX21	9188	broad.mit.edu	37	10	70719870	70719870	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70719870G>A	uc001jov.1	+	2	486	c.396G>A	c.(394-396)AAG>AAA	p.K132K	DDX21_uc001jow.1_Silent_p.K64K	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	132						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						AGCCCAAGAAGATGAAGAAAG	0.408		NaN											0	0	0	0.008291	0	11	42				
FUT11	170384	broad.mit.edu	37	10	75532615	75532615	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:75532615C>G	uc001jva.2	+	1	567	c.524C>G	c.(523-525)TCG>TGG	p.S175W	FUT11_uc001juy.1_Missense_Mutation_p.S175W|FUT11_uc001juz.1_Missense_Mutation_p.S175W	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	175	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					AGTCGCCACTCGGATTACCCG	0.687		NaN											0	0	0	0.006122	0	16	36				
DUPD1	338599	broad.mit.edu	37	10	76803619	76803619	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:76803619G>C	uc001jwq.1	-	2	357	c.357C>G	c.(355-357)TTC>TTG	p.F119L		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	119	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CACTGAGGTCGAAGGTGGGCA	0.577		NaN											0	0	0	0.007413	0	18	68				
PAPSS2	9060	broad.mit.edu	37	10	89501082	89501082	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:89501082C>T	uc001kex.2	+	9	1425	c.1162C>T	c.(1162-1164)CTG>TTG	p.L388L	PAPSS2_uc001kew.2_Silent_p.L393L	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	388	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCAATACCGTCTGACACCTCT	0.378		NaN											0	0	0	0.006214	0	9	76				
IFIT3	3437	broad.mit.edu	37	10	91099478	91099478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:91099478G>A	uc001kgf.2	+	2	1295	c.1066G>A	c.(1066-1068)GAA>AAA	p.E356K	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.E356K	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	356					type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						CCCTGATGCTGAAAAGCAACA	0.453		NaN											0	0	0	0.003954	0	27	38				
CPN1	1369	broad.mit.edu	37	10	101841262	101841262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:101841262C>G	uc001kql.2	-	1	381	c.121G>C	c.(121-123)GAA>CAA	p.E41Q		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597		NaN											0	0	0	0.001882	0	21	36				
PKD2L1	9033	broad.mit.edu	37	10	102089772	102089772	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:102089772G>A	uc001kqx.1	-	1	472	c.89C>T	c.(88-90)TCC>TTC	p.S30F	PKD2L1_uc009xwm.1_5'UTR	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	30	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCGTGTGGGGAAGGGGGACC	0.622		NaN											0	0	0	0.002222	0	39	80				
CNNM2	54805	broad.mit.edu	37	10	104678701	104678701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104678701C>G	uc001kwm.2	+	1	588	c.464C>G	c.(463-465)TCA>TGA	p.S155*	CNNM2_uc001kwn.2_Nonsense_Mutation_p.S155*|CNNM2_uc001kwl.2_Nonsense_Mutation_p.S155*	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	155					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCCGCACCTCAGACATCATC	0.502		NaN											0	0	0	0.004656	0	28	196				
CNNM2	54805	broad.mit.edu	37	10	104816644	104816644	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104816644G>A	uc001kwm.2	+	4	2120	c.1996G>A	c.(1996-1998)GAG>AAG	p.E666K	CNNM2_uc001kwn.2_Missense_Mutation_p.E666K	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	666					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAATATGATGAGAAGAACAA	0.433		NaN											0	0	0	0.005524	0	35	98				
ABLIM1	3983	broad.mit.edu	37	10	116307536	116307536	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:116307536C>G	uc010qsg.1	-	5	773	c.674_splice	c.e5-1	p.N225_splice	ABLIM1_uc010qsh.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsi.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsk.1_Splice_Site_p.N149_splice|ABLIM1_uc009xyp.2_Splice_Site_p.N159_splice|ABLIM1_uc009xyo.2_Splice_Site_p.N73_splice	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCGGCACAATCTGAAAAAGAG	0.522		NaN											0	0	0	0.004482	0	8	32				
INPP5F	22876	broad.mit.edu	37	10	121586615	121586615	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:121586615C>G	uc001leo.2	+	20	2888	c.2722C>G	c.(2722-2724)CTT>GTT	p.L908V	INPP5F_uc001lep.2_Missense_Mutation_p.L298V	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	908							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTCCCAGTCTCTTAGCAGCAC	0.488		NaN											0	0	0	0.001855	0	14	68				
TACC2	10579	broad.mit.edu	37	10	123844900	123844900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:123844900C>G	uc001lfv.2	+	4	3245	c.2885C>G	c.(2884-2886)TCG>TGG	p.S962W	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S962W|TACC2_uc010qtv.1_Missense_Mutation_p.S962W	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	962						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCGAGGGTCTCGCCTCCAGCA	0.537		NaN											0	0	0	0.002836	0	34	78				
DMBT1	1755	broad.mit.edu	37	10	124380654	124380654	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124380654C>T	uc001lgk.1	+	41	5085	c.4979C>T	c.(4978-4980)TCC>TTC	p.S1660F	DMBT1_uc001lgl.1_Missense_Mutation_p.S1650F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1032F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1660F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S363F|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1660	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATCGAGGCTCCTGGGGAACC	0.587		NaN											0	0	0	0.00361	0	101	231				
DMBT1	1755	broad.mit.edu	37	10	124390773	124390773	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124390773G>A	uc001lgk.1	+	46	6041	c.5935G>A	c.(5935-5937)GAA>AAA	p.E1979K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1969K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1351K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1979K|DMBT1_uc010qtx.1_Missense_Mutation_p.E699K|DMBT1_uc009yab.1_Missense_Mutation_p.E682K|DMBT1_uc009yac.1_Missense_Mutation_p.E273K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1979	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAATCATCGTGAAGATGCTGG	0.537		NaN											0	0	0	0.003271	0	30	139				
DHX32	55760	broad.mit.edu	37	10	127542652	127542652	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:127542652C>T	uc001ljf.1	-	4	1461	c.970G>A	c.(970-972)GAA>AAA	p.E324K	DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.E324K|DHX32_uc009yam.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	324						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTCTGTTTCATCGAGTGGC	0.388		NaN											0	0	0	0.00245	0	13	106				
MKI67	4288	broad.mit.edu	37	10	129903899	129903899	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129903899C>G	uc001lke.2	-	13	6400	c.6205G>C	c.(6205-6207)GAG>CAG	p.E2069Q	MKI67_uc001lkf.2_Missense_Mutation_p.E1709Q|MKI67_uc009yav.1_Missense_Mutation_p.E1644Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1219Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2069	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTGGGCCTCTTCCTTAGGT	0.483		NaN											0	0	0	0.00361	0	64	320				
MKI67	4288	broad.mit.edu	37	10	129904445	129904445	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129904445C>G	uc001lke.2	-	13	5854	c.5659G>C	c.(5659-5661)GAG>CAG	p.E1887Q	MKI67_uc001lkf.2_Missense_Mutation_p.E1527Q|MKI67_uc009yav.1_Missense_Mutation_p.E1462Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1037Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1887	16 X 122 AA approximate repeats.|8.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458		NaN											0	0	0	0.00874	0	42	346				
CDHR5	53841	broad.mit.edu	37	11	618014	618014	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:618014G>A	uc001lqj.2	-	14	2163	c.2058C>T	c.(2056-2058)CTC>CTT	p.L686L	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.L492L|CDHR5_uc009ycc.2_Silent_p.L520L|CDHR5_uc009ycd.2_Silent_p.L680L|CDHR5_uc001lql.2_Silent_p.L686L	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	686	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						CAAGGACGGCGAGGCCAAGGA	0.682		NaN											0	0	0	0.001984	0	7	27				
MUC5B	727897	broad.mit.edu	37	11	1157932	1157932	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:1157932C>G	uc009ycr.1	+	9	1125	c.999C>G	c.(997-999)TTC>TTG	p.F333L		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCTGACTTCTGCCGTGAGT	0.687		NaN											0	0	0	0.006214	0	8	47				
TRIM3	10612	broad.mit.edu	37	11	6470362	6470362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6470362C>T	uc001mdh.2	-	13	2518	c.2131G>A	c.(2131-2133)GAA>AAA	p.E711K	TRIM3_uc001mdi.2_Missense_Mutation_p.E711K|TRIM3_uc010raj.1_Missense_Mutation_p.E592K|TRIM3_uc009yfd.2_Missense_Mutation_p.E711K	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	711	NHL 6.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAGTGGTTCTGCAGATGTG	0.547		NaN											0	0	0	0.008871	0	18	40				
DNHD1	144132	broad.mit.edu	37	11	6592126	6592126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6592126C>T	uc001mdw.3	+	42	13948	c.13384C>T	c.(13384-13386)CGC>TGC	p.R4462C	DNHD1_uc001mea.3_Missense_Mutation_p.R731C|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.R730C|DNHD1_uc010rao.1_Missense_Mutation_p.R720C|DNHD1_uc009yfg.2_Missense_Mutation_p.R87C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4462					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACGTGATTCGCCAAGACGA	0.627		NaN											0	0	0	0.00499	0	18	42				
IPO7	10527	broad.mit.edu	37	11	9435956	9435956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9435956C>T	uc001mho.2	+	5	776	c.634C>T	c.(634-636)CAG>TAG	p.Q212*		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	212					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGCTCTTGTTCAGGTAATATC	0.343		NaN											0	0	0	0.006214	0	8	71				
SBF2	81846	broad.mit.edu	37	11	9838482	9838482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9838482G>A	uc001mib.2	-	29	4021	c.3883C>T	c.(3883-3885)CAC>TAC	p.H1295Y	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1295	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAGGCCGAGTGATCCTTGCCT	0.507		NaN											0	0	0	0.001368	0	13	59				
SBF2	81846	broad.mit.edu	37	11	10014566	10014566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10014566G>A	uc001mib.2	-	11	1276	c.1138C>T	c.(1138-1140)CAT>TAT	p.H380Y	SBF2_uc001mif.3_Missense_Mutation_p.H136Y	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	380	dDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCTCTGCATGAATTCTTATA	0.318		NaN											0	0	0	0.003271	0	32	81				
MICALCL	84953	broad.mit.edu	37	11	12341262	12341262	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:12341262C>T	uc001mkg.1	+	4	1737	c.1446C>T	c.(1444-1446)CTC>CTT	p.L482L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	482					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		ACTTTCCCCTCAGAGCACAGG	0.468		NaN											0	0	0	0.002445	0	32	111				
BTBD10	84280	broad.mit.edu	37	11	13435141	13435141	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:13435141C>T	uc001mkz.2	-	6	1001	c.744G>A	c.(742-744)CTG>CTA	p.L248L	BTBD10_uc010rcl.1_Silent_p.L256L|BTBD10_uc001mla.2_Silent_p.L232L|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.L200L|BTBD10_uc010rcn.1_Silent_p.L217L|BTBD10_uc009ygo.2_Silent_p.L200L	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	248						nucleus					0				Epithelial(150;0.0214)		ATGCTTCTCTCAGTTCAGGAA	0.328		NaN											0	0	0	0.00308	0	8	61				
HPS5	11234	broad.mit.edu	37	11	18309162	18309162	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:18309162G>A	uc001mod.1	-	18	2915	c.2637C>T	c.(2635-2637)ATC>ATT	p.I879I	HPS5_uc001moe.1_Silent_p.I765I|HPS5_uc001mof.1_Silent_p.I765I	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	879						cytosol				ovary(1)|pancreas(1)|skin(1)	3						AAAGTTGTATGATATCCGATG	0.393		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.007413	0	20	50				
MUC15	143662	broad.mit.edu	37	11	26584757	26584757	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:26584757G>C	uc001mqx.2	-	3	1016	c.750C>G	c.(748-750)GTC>GTG	p.V250V	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.V277V|MUC15_uc001mqy.2_Intron	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	250	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAAGCAATGAGACACCCAGAA	0.343		NaN											0	0	0	0.002096	0	26	63				
CCDC73	493860	broad.mit.edu	37	11	32636042	32636042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32636042G>T	uc001mtv.2	-	16	1866	c.1822C>A	c.(1822-1824)CCA>ACA	p.P608T		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	608										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					CGAGTCCCTGGAAGCAATCTG	0.333		NaN											1	0	8.12818e-05	0.001984	9.68923e-05	7	36				
QSER1	79832	broad.mit.edu	37	11	32955538	32955538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32955538C>T	uc001mty.2	+	4	2614	c.2347C>T	c.(2347-2349)CAG>TAG	p.Q783*	QSER1_uc001mtz.1_Nonsense_Mutation_p.Q544*|QSER1_uc001mua.2_Nonsense_Mutation_p.Q288*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	783	Gln-rich.							p.Q783Q(1)		ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TGATCATTCTCAGCAGCAACT	0.403		NaN											0	0	0	0.004007	0	16	104				
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:33108639C>A	uc001muh.2	-	18	1856	c.1690G>T	c.(1690-1692)GCT>TCT	p.A564S	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	564	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						ATAGAAGGAGCTACAACTGGG	0.433		NaN											1	0	1.5842e-08	0.001855	1.93326e-08	11	337				
CRY2	1408	broad.mit.edu	37	11	45891150	45891150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:45891150G>C	uc010rgn.1	+	7	1061	c.1039G>C	c.(1039-1041)GAC>CAC	p.D347H	CRY2_uc009ykw.2_Missense_Mutation_p.D265H|CRY2_uc010rgo.1_Missense_Mutation_p.D69H	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	326	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						CCCCAGGTTTGACCGCATGGA	0.592		NaN											0	0	0	0.007835	0	42	100				
DGKZ	8525	broad.mit.edu	37	11	46387826	46387826	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46387826G>A	uc001ncn.1	+	2	145	c.20G>A	c.(19-21)AGA>AAA	p.R7K	DGKZ_uc001nch.1_Intron|DGKZ_uc010rgq.1_Intron|DGKZ_uc001ncj.1_Intron|DGKZ_uc010rgr.1_Intron|DGKZ_uc001nck.1_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.1_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	7					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTCTTTAGGAGACATTTCCGG	0.682		NaN											0	0	0	0.001984	0	7	19				
DGKZ	8525	broad.mit.edu	37	11	46397143	46397143	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46397143G>A	uc001ncn.1	+	21	2561	c.2436G>A	c.(2434-2436)CAG>CAA	p.Q812Q	DGKZ_uc001nch.1_Silent_p.Q640Q|DGKZ_uc010rgq.1_Silent_p.Q567Q|DGKZ_uc001ncj.1_Silent_p.Q590Q|DGKZ_uc010rgr.1_Silent_p.Q589Q|DGKZ_uc001nck.1_Silent_p.Q402Q|DGKZ_uc001ncl.2_Silent_p.Q624Q|DGKZ_uc001ncm.2_Silent_p.Q623Q|DGKZ_uc009yky.1_Silent_p.Q624Q|DGKZ_uc010rgs.1_Silent_p.Q601Q	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	812					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCATGGTGCAGAAGGCCAAGC	0.507		NaN											0	0	0	0.004482	0	5	12				
ARFGAP2	84364	broad.mit.edu	37	11	47198344	47198344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47198344G>C	uc001ndt.2	-	1	76	c.61C>G	c.(61-63)CCA>GCA	p.P21A	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndu.2_Missense_Mutation_p.P21A|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndv.1_Missense_Mutation_p.P21A	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	21	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						TTGTTGGTTGGAACTGCGCGA	0.617		NaN											0	0	0	0.004482	0	8	44				
DDB2	1643	broad.mit.edu	37	11	47254407	47254407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254407C>T	uc001neb.2	+	4	694	c.499C>T	c.(499-501)CTC>TTC	p.L167F	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L103F|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.L31F|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	167	WD 2.				nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						GTTTAACCCTCTCAATACCAA	0.498		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.000978	0	10	112				
DDB2	1643	broad.mit.edu	37	11	47254409	47254409	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254409C>T	uc001neb.2	+	4	696	c.501C>T	c.(499-501)CTC>CTT	p.L167L	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.L103L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Silent_p.L31L|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	167	WD 2.				nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TTAACCCTCTCAATACCAACC	0.498		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.000978	0	10	112				
FNBP4	23360	broad.mit.edu	37	11	47744605	47744605	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47744605G>C	uc009ylv.2	-	15	2881	c.2728C>G	c.(2728-2730)CCT>GCT	p.P910A	FNBP4_uc001ngi.2_Missense_Mutation_p.P224A|FNBP4_uc001ngj.2_Missense_Mutation_p.P817A	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	910	Pro-rich.									ovary(1)	1						ggaggaggaggaggtggtggt	0.353		NaN											0	0	0	0.001168	0	6	6				
PTPRJ	5795	broad.mit.edu	37	11	48152048	48152048	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:48152048C>T	uc001ngp.3	+	8	1750	c.1395C>T	c.(1393-1395)GTC>GTT	p.V465V	PTPRJ_uc001ngo.3_Silent_p.V465V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	465	Extracellular (Potential).|Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TGACAGTGGTCAGCACGACGG	0.468		NaN											0	0	0	0.004007	0	16	44				
OR5L2	26338	broad.mit.edu	37	11	55595152	55595152	+	Missense_Mutation	SNP	C	C	T	rs144590289	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:55595152C>T	uc001nhy.1	+	1	458	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.488		NaN								HNSCC(27;0.073)			0	0	0	0.004878	0	35	127				
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56020545G>A	uc010rjd.1	+	1	870	c.870G>A	c.(868-870)ATG>ATA	p.M290I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	290	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403		NaN											0	0	0	0.000978	0	11	96				
OR5T1	390155	broad.mit.edu	37	11	56043552	56043552	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56043552G>A	uc001nio.1	+	1	438	c.438G>A	c.(436-438)GTG>GTA	p.V146V		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	146	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TGTATTCAGTGAGCATGTCAC	0.438		NaN											0	0	0	0.00361	0	64	200				
OR8K1	390157	broad.mit.edu	37	11	56114212	56114212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56114212G>C	uc010rjg.1	+	1	698	c.698G>C	c.(697-699)AGA>ACA	p.R233T		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GCCATTCTCAGAATGAACTCA	0.378		NaN								HNSCC(65;0.19)			0	0	0	0.001368	0	13	53				
OR5A2	219981	broad.mit.edu	37	11	59190117	59190117	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59190117C>A	uc010rkt.1	-	1	310	c.310G>T	c.(310-312)GTC>TTC	p.V104F		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCACAGAAGACAAAGTACTGA	0.507		NaN											1	0	2.37509e-13	0.001523	2.96629e-13	21	56				
OR4D11	219986	broad.mit.edu	37	11	59271544	59271544	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271544C>T	uc001noa.1	+	1	496	c.496C>T	c.(496-498)CTC>TTC	p.L166F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTTGCTGCCTCTCCCTTTCTG	0.517		NaN											0	0	0	0.00361	0	54	172				
OR4D11	219986	broad.mit.edu	37	11	59271963	59271963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271963C>T	uc001noa.1	+	1	915	c.915C>T	c.(913-915)CTC>CTT	p.L305L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGAGAAGACTCGTGCCTTCTG	0.308		NaN											0	0	0	0.008291	0	11	53				
FTH1	2495	broad.mit.edu	37	11	61732243	61732243	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732243G>C	uc001nsu.2	-	4	743	c.508C>G	c.(508-510)CTC>GTC	p.L170V		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	170					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	TTGTCAAAGAGATATTCCGCC	0.522		NaN											0	0	0	0.003954	0	24	70				
FTH1	2495	broad.mit.edu	37	11	61732561	61732561	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732561C>G	uc001nsu.2	-	3	520	c.285G>C	c.(283-285)GAG>GAC	p.E95D		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	95	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	TCAGCCCGCTCTCCCAGTCAT	0.448		NaN											0	0	0	0.002836	0	33	221				
FTH1	2495	broad.mit.edu	37	11	61732918	61732918	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732918C>G	uc001nsu.2	-	2	419	c.184G>C	c.(184-186)GAG>CAG	p.E62Q		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	62	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	TCCCTCTCCTCATGAGATTGG	0.443		NaN											0	0	0	0.008361	0	30	212				
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62289440G>A	uc001ntl.2	-	5	12749	c.12449C>T	c.(12448-12450)TCT>TTT	p.S4150F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4150					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522		NaN											0	0	0	0.00874	0	45	132				
INTS5	80789	broad.mit.edu	37	11	62414702	62414702	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62414702G>C	uc001nud.2	-	2	2903	c.2850C>G	c.(2848-2850)CTC>CTG	p.L950L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	950	Helical; (Potential).				snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CATGCTCCCGGAGAAAACCCC	0.587		NaN											0	0	0	0.00361	0	49	198				
INTS5	80789	broad.mit.edu	37	11	62415293	62415293	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62415293G>A	uc001nud.2	-	2	2312	c.2259C>T	c.(2257-2259)GTC>GTT	p.V753V	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	753					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CACGGCCGATGACTCCAGCAT	0.547		NaN											0	0	0	0.006122	0	17	62				
HNRNPUL2	221092	broad.mit.edu	37	11	62494157	62494157	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62494157C>G	uc001nuw.2	-	1	665	c.472G>C	c.(472-474)GAG>CAG	p.E158Q	HNRNPUL2_uc001nuu.1_RNA|TTC9C_uc001nux.2_5'Flank|TTC9C_uc001nuy.2_5'Flank	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	158	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						CTCCGCTCCTCGGGTTCGTCT	0.701		NaN											0	0	0	0.001368	0	13	26				
NRXN2	9379	broad.mit.edu	37	11	64410027	64410027	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64410027G>A	uc001oap.2	-	2	760	c.249C>T	c.(247-249)CTC>CTT	p.L83L	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	83	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CGCCGCGGGTGAGGAAGGGCA	0.731		NaN											0	0	0	0.00308	0	7	18				
PYGM	5837	broad.mit.edu	37	11	64520647	64520647	+	Missense_Mutation	SNP	G	G	C	rs142207594		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64520647G>C	uc001oax.3	-	12	2233	c.1416C>G	c.(1414-1416)TTC>TTG	p.F472L	PYGM_uc001oay.3_Missense_Mutation_p.F384L	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	472					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CCAGCTCATAGAAGTCTTTGA	0.577		NaN											0	0	0	0.00361	0	62	146				
ATG2A	23130	broad.mit.edu	37	11	64665196	64665196	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64665196C>T	uc001obx.2	-	36	5129	c.5014G>A	c.(5014-5016)GAG>AAG	p.E1672K	ATG2A_uc001obw.2_Missense_Mutation_p.E437K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1672							protein binding			ovary(1)|central_nervous_system(1)	2						ATGGGGACCTCAGACGTGAAG	0.647		NaN											0	0	0	0.001368	0	12	48				
ZNHIT2	741	broad.mit.edu	37	11	64884581	64884581	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64884581C>T	uc001ocw.2	-	1	590	c.545G>A	c.(544-546)GGA>GAA	p.G182E	uc009yqb.1_Missense_Mutation_p.S151F	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT domain containing 2	182							metal ion binding			breast(1)	1						CGGGACATCTCCAAGAACCCG	0.726		NaN											0	0	0	0.001984	0	5	14				
RELA	5970	broad.mit.edu	37	11	65427190	65427190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65427190G>C	uc001ofg.2	-	6	646	c.506C>G	c.(505-507)TCA>TGA	p.S169*	RELA_uc001ofh.2_Nonsense_Mutation_p.S166*|RELA_uc010ron.1_Nonsense_Mutation_p.S180*|RELA_uc009yqr.2_Nonsense_Mutation_p.S116*|RELA_uc001ofe.2_Nonsense_Mutation_p.S169*|RELA_uc001off.2_Nonsense_Mutation_p.S169*|RELA_uc009yqs.1_RNA	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	169	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						GGGCCTGCCTGATGGGTCCCG	0.587		NaN											0	0	0	0.007291	0	26	74				
BBS1	582	broad.mit.edu	37	11	66278173	66278173	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:66278173G>A	uc001oij.1	+	1	55	c.43G>A	c.(43-45)GAG>AAG	p.E15K	BBS1_uc001oii.1_Intron|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.E15K|BBS1_uc001oik.1_5'UTR|BBS1_uc001oil.1_Missense_Mutation_p.E15K	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	15					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CTGCGGAGCTGAGAGGTGAAG	0.662		NaN							Bardet-Biedl_syndrome				0	0	0	0.008291	0	9	32				
KDM2A	22992	broad.mit.edu	37	11	67022406	67022406	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67022406G>A	uc001ojw.2	+	21	4233	c.3369G>A	c.(3367-3369)TTG>TTA	p.L1123L	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.L817L|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.2_Silent_p.L247L	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1123	LRR 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						ACGTCACCTTGATCGACCTTC	0.502		NaN											0	0	0	0.001984	0	6	19				
CHKA	1119	broad.mit.edu	37	11	67888317	67888317	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67888317C>T	uc001onj.2	-	1	542	c.328G>A	c.(328-330)GAG>AAG	p.E110K	CHKA_uc001onk.2_Missense_Mutation_p.E110K	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	110					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)	ATGTGGAACTCGTCCTCGCGG	0.577		NaN											0	0	0	0.004007	0	13	47				
PPFIA1	8500	broad.mit.edu	37	11	70189871	70189871	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:70189871G>C	uc001opo.2	+	15	2002	c.1804G>C	c.(1804-1806)GAT>CAT	p.D602H	PPFIA1_uc001opn.1_Missense_Mutation_p.D602H|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	602					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACGTGTCTGATGGTGAAGA	0.532		NaN											0	0	0	0.001984	0	7	58				
ARHGEF17	9828	broad.mit.edu	37	11	73078785	73078785	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73078785G>A	uc001otu.2	+	21	6173	c.6152G>A	c.(6151-6153)CGA>CAA	p.R2051Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2051					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						ACTGTGGGTCGAGACGACAGC	0.632		NaN											0	0	0	0.004007	0	13	82				
UCP3	7352	broad.mit.edu	37	11	73718076	73718076	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73718076C>T	uc001our.2	-	2	367	c.12G>A	c.(10-12)CTG>CTA	p.L4L	UCP3_uc001ous.2_Silent_p.L4L	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	4					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					CTGAAGGCTTCAGTCCAACCA	0.602		NaN											0	0	0	0.000978	0	9	31				
C2CD3	26005	broad.mit.edu	37	11	73820130	73820130	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73820130C>A	uc001ouu.2	-	12	2138	c.1911G>T	c.(1909-1911)TGG>TGT	p.W637C		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	637						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GGTTGGAATTCCACCAGTGCT	0.433		NaN											1	0	7.07596e-05	0.006122	8.44891e-05	19	47				
C2CD3	26005	broad.mit.edu	37	11	73844510	73844510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73844510G>A	uc001ouu.2	-	6	1275	c.1048C>T	c.(1048-1050)CAT>TAT	p.H350Y	C2CD3_uc001ouv.2_Missense_Mutation_p.H350Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	350						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393		NaN											0	0	0	0.00245	0	13	20				
MAP6	4135	broad.mit.edu	37	11	75298605	75298605	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:75298605C>T	uc001owu.2	-	4	2006	c.1941G>A	c.(1939-1941)CCG>CCA	p.P647P		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	647	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					TTTCATCCTTCGGATGCTCTG	0.512		NaN											0	0	0	0.00361	0	58	129				
C11orf30	56946	broad.mit.edu	37	11	76257029	76257029	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:76257029G>C	uc001oxl.2	+	20	3605	c.3462G>C	c.(3460-3462)TTG>TTC	p.L1154F	C11orf30_uc001oxm.2_Missense_Mutation_p.L1056F|C11orf30_uc010rsb.1_Missense_Mutation_p.L1169F|C11orf30_uc010rsc.1_Missense_Mutation_p.L1155F|C11orf30_uc001oxn.2_Missense_Mutation_p.L1155F|C11orf30_uc010rsd.1_Missense_Mutation_p.L1063F|C11orf30_uc010rse.1_Missense_Mutation_p.L401F|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1154					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						AAATGTCTTTGATGGAAGCTC	0.448		NaN											0	0	0	0.00333	0	26	59				
ODZ4	26011	broad.mit.edu	37	11	78369325	78369325	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:78369325C>G	uc001ozl.3	-	34	8551	c.8088G>C	c.(8086-8088)CAG>CAC	p.Q2696H	ODZ4_uc001ozk.3_Missense_Mutation_p.Q921H|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2696	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCACGGCTCTCTGCCGGGCCA	0.657		NaN											0	0	0	0.008291	0	10	21				
CCDC81	60494	broad.mit.edu	37	11	86119250	86119250	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:86119250G>A	uc001pbx.1	+	9	1479	c.1051G>A	c.(1051-1053)GAT>AAT	p.D351N	CCDC81_uc001pbw.1_Missense_Mutation_p.D261N|CCDC81_uc010rtq.1_Missense_Mutation_p.D134N|CCDC81_uc001pby.1_Intron	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	351										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGATAGAAGATGAGAGACT	0.428		NaN											0	0	0	0.000978	0	11	35				
KBTBD3	143879	broad.mit.edu	37	11	105923824	105923824	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:105923824C>G	uc001pja.2	-	4	2232	c.1592G>C	c.(1591-1593)TGG>TCG	p.W531S	KBTBD3_uc001pjb.2_Missense_Mutation_p.W531S|KBTBD3_uc009yxm.2_Missense_Mutation_p.W452S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	527										ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTCGCCTTTCCAAACACAAGT	0.358		NaN											0	0	0	0.000602	0	5	46				
DDX10	1662	broad.mit.edu	37	11	108577549	108577549	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:108577549C>T	uc001pkm.2	+	10	1372	c.1307C>T	c.(1306-1308)CCT>CTT	p.P436L	DDX10_uc001pkl.1_Missense_Mutation_p.P436L	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	436	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGAAAGTACCTGTGAAGGAA	0.373		NaN	T	NUP98	AML*								0	0	0	0.005443	0	27	154				
ZBTB16	7704	broad.mit.edu	37	11	113934854	113934854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:113934854G>C	uc001pop.2	+	2	1096	c.832G>C	c.(832-834)GAG>CAG	p.E278Q	ZBTB16_uc001poo.1_Missense_Mutation_p.E278Q|ZBTB16_uc001poq.2_Missense_Mutation_p.E278Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	278					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGAGGCAAAGAGGGGCCTGG	0.632		NaN											0	0	0	0.004482	0	8	41				
ABCG4	64137	broad.mit.edu	37	11	119027643	119027643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:119027643G>C	uc001pvs.2	+	9	1323	c.987G>C	c.(985-987)CAG>CAC	p.Q329H	ABCG4_uc009zar.2_Missense_Mutation_p.Q329H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	329	Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCTGTGCAGAATGGGCTGT	0.582		NaN											0	0	0	0.00278	0	22	98				
POU2F3	25833	broad.mit.edu	37	11	120169015	120169015	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:120169015C>T	uc001pxc.2	+	4	276	c.174C>T	c.(172-174)CTC>CTT	p.L58L	POU2F3_uc010rzk.1_5'UTR|POU2F3_uc010rzl.1_5'UTR	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	58					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGCAGACCCTCTCCCATCGGC	0.532		NaN											0	0	0	0.002522	0	43	227				
C11orf63	79864	broad.mit.edu	37	11	122805334	122805334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:122805334C>T	uc001pym.2	+	5	1482	c.1185C>T	c.(1183-1185)CCC>CCT	p.P395P		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	395										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATAACCCTCCCAGGCAGCAAC	0.463		NaN											0	0	0	0.00308	0	8	32				
ST14	6768	broad.mit.edu	37	11	130059777	130059777	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:130059777C>T	uc001qfw.2	+	5	777	c.584C>T	c.(583-585)TCA>TTA	p.S195L	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	195	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGGTCACCTCAGTGGTGGCT	0.701		NaN											0	0	0	0.008871	0	18	85				
CACNA1C	775	broad.mit.edu	37	12	2690861	2690861	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2690861C>A	uc009zdu.1	+	14	2314	c.2001C>A	c.(1999-2001)CTC>CTA	p.L667L	CACNA1C_uc009zdv.1_Silent_p.L664L|CACNA1C_uc001qkb.2_Silent_p.L667L|CACNA1C_uc001qkc.2_Silent_p.L667L|CACNA1C_uc001qke.2_Silent_p.L667L|CACNA1C_uc001qkf.2_Silent_p.L667L|CACNA1C_uc001qjz.2_Silent_p.L667L|CACNA1C_uc001qkd.2_Silent_p.L667L|CACNA1C_uc001qkg.2_Silent_p.L667L|CACNA1C_uc009zdw.1_Silent_p.L667L|CACNA1C_uc001qkh.2_Silent_p.L667L|CACNA1C_uc001qkl.2_Silent_p.L667L|CACNA1C_uc001qkn.2_Silent_p.L667L|CACNA1C_uc001qko.2_Silent_p.L667L|CACNA1C_uc001qkp.2_Silent_p.L667L|CACNA1C_uc001qkr.2_Silent_p.L667L|CACNA1C_uc001qku.2_Silent_p.L667L|CACNA1C_uc001qkq.2_Silent_p.L667L|CACNA1C_uc001qks.2_Silent_p.L667L|CACNA1C_uc001qkt.2_Silent_p.L667L|CACNA1C_uc001qka.1_Silent_p.L202L|CACNA1C_uc001qki.1_Silent_p.L403L|CACNA1C_uc001qkj.1_Silent_p.L403L|CACNA1C_uc001qkk.1_Silent_p.L403L|CACNA1C_uc001qkm.1_Silent_p.L403L|CACNA1C_uc001qkw.2_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	667	II.|Helical; Name=S5 of repeat II; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcttctccctcctGGGGATGC	0.423		NaN											1	0	5.50884e-06	0.001368	6.64382e-06	12	86				
ITFG2	55846	broad.mit.edu	37	12	2933049	2933049	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2933049C>T	uc001qlb.1	+	11	1244	c.1180C>T	c.(1180-1182)CTG>TTG	p.L394L	ITFG2_uc010seb.1_Silent_p.L217L|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	394											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTACCAATCTGGTGAAACT	0.582		NaN											0	0	0	0.00361	0	43	97				
CD4	920	broad.mit.edu	37	12	6924060	6924060	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:6924060C>T	uc001qqv.1	+	5	754	c.509C>T	c.(508-510)TCC>TTC	p.S170F	CD4_uc009zez.1_Missense_Mutation_p.S115F|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	170	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				AAGACCCTCTCCGTGTCTCAG	0.552		NaN											0	0	0	0.001882	0	22	49				
CLEC6A	93978	broad.mit.edu	37	12	8618181	8618181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:8618181G>A	uc001qum.1	+	4	442	c.325G>A	c.(325-327)GAG>AAG	p.E109K		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	109	Extracellular (Potential).|C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)					GAACTGTGTTGAGATGGGAGC	0.363		NaN											0	0	0	0.003755	0	30	77				
CLEC12A	160364	broad.mit.edu	37	12	10124258	10124258	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:10124258C>T	uc001qwr.3	+	1	251	c.63C>T	c.(61-63)ATC>ATT	p.I21I	CLEC12A_uc001qwq.2_Silent_p.I31I|CLEC12A_uc001qws.3_Silent_p.I21I|CLEC12A_uc001qwt.2_5'UTR	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	21	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						TGGAAAAAATCCCAGAAATTG	0.318		NaN											0	0	0	0.00499	0	18	73				
BCL2L14	79370	broad.mit.edu	37	12	12247765	12247765	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:12247765C>G	uc001rac.2	+	5	1047	c.846C>G	c.(844-846)CTC>CTG	p.L282L	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.L282L|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	282					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CGGCCAAGCTCACAGCTATTG	0.552		NaN											0	0	0	0.007291	0	31	91				
PLCZ1	89869	broad.mit.edu	37	12	18876389	18876389	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:18876389C>T	uc010sid.1	-	4	414	c.223G>A	c.(223-225)GAG>AAG	p.E75K	PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	75					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGAAAATCTCAATAATTTCT	0.338		NaN											0	0	0	0.004007	0	16	65				
PDE3A	5139	broad.mit.edu	37	12	20801786	20801786	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:20801786G>A	uc001reh.1	+	13	2752	c.2730G>A	c.(2728-2730)CTG>CTA	p.L910L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	910	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCACTGACCTGAAGAAACACT	0.323		NaN											0	0	0	0.003271	0	31	64				
C12orf71	728858	broad.mit.edu	37	12	27235150	27235150	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:27235150G>T	uc001rhq.2	-	1	306	c.267C>A	c.(265-267)TTC>TTA	p.F89L		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	89											0						CCCAGGCCAGGAAGATGCTTA	0.483		NaN											1	0	0.00307968	0.00308	0.00364399	7	52				
IPO8	10526	broad.mit.edu	37	12	30833556	30833556	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:30833556C>T	uc001rjd.2	-	5	669	c.499G>A	c.(499-501)GAG>AAG	p.E167K		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	167					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTTCTCTCTCTTCTGCTTTC	0.318		NaN											0	0	0	0.007413	0	19	136				
KIF21A	55605	broad.mit.edu	37	12	39703448	39703448	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:39703448G>C	uc001rly.2	-	33	4363	c.4217C>G	c.(4216-4218)TCA>TGA	p.S1406*	KIF21A_uc001rlv.2_Nonsense_Mutation_p.S351*|KIF21A_uc001rlw.2_Nonsense_Mutation_p.S676*|KIF21A_uc001rlx.2_Nonsense_Mutation_p.S1393*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.S1353*|KIF21A_uc010skl.1_Nonsense_Mutation_p.S1369*|KIF21A_uc001rlt.2_Nonsense_Mutation_p.S26*|KIF21A_uc001rlu.2_Nonsense_Mutation_p.S26*	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1406	WD 2.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				ATAAGATGTTGATACAGTGAA	0.393		NaN											0	0	0	0.001855	0	12	49				
LRRK2	120892	broad.mit.edu	37	12	40629491	40629491	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:40629491G>A	uc001rmg.3	+	4	532	c.411G>A	c.(409-411)AAG>AAA	p.K137K		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	137					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGGACTGAAGACCTTAGATC	0.303		NaN											0	0	0	0.001855	0	12	53				
LASS5	91012	broad.mit.edu	37	12	50536906	50536906	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:50536906G>A	uc001rwd.3	-	3	402	c.385C>T	c.(385-387)CGG>TGG	p.R129W	LASS5_uc001rwc.2_Missense_Mutation_p.R48W|LASS5_uc001rwe.3_Missense_Mutation_p.R70W|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	129	Cytoplasmic (Potential).|Homeobox.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						TGATTCCTCCGATGGCGAAAC	0.478		NaN											0	0	0	0.00361	0	124	307				
METTL7A	25840	broad.mit.edu	37	12	51323733	51323733	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323733G>C	uc001rxb.2	+	2	823	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	METTL7A_uc010smv.1_Nonstop_Mutation_p.*110S	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	179						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						TGTGGCAGCTGAGTGTTCGAC	0.428		NaN											0	0	0	0.00361	0	56	188				
METTL7A	25840	broad.mit.edu	37	12	51323817	51323817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323817G>T	uc001rxb.2	+	2	907	c.619G>T	c.(619-621)GAG>TAG	p.E207*	METTL7A_uc010smv.1_3'UTR	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	207						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						CCTGACCAGAGAGAGCTGGAA	0.572		NaN											1	0	3.33393e-15	0.004878	4.18558e-15	38	127				
CSRNP2	81566	broad.mit.edu	37	12	51467852	51467852	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51467852C>T	uc001rxu.1	-	3	463	c.165G>A	c.(163-165)CTG>CTA	p.L55L		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	55					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTGCCGCTTCAGGATGGATG	0.383		NaN											0	0	0	0.00333	0	25	78				
BIN2	51411	broad.mit.edu	37	12	51686023	51686023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51686023C>G	uc001ryg.2	-	10	919	c.867G>C	c.(865-867)GAG>GAC	p.E289D	BIN2_uc009zlz.2_Missense_Mutation_p.E257D|BIN2_uc001ryh.2_Missense_Mutation_p.E165D|BIN2_uc010sng.1_Missense_Mutation_p.E263D	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	289						cytoplasm	protein binding			ovary(1)	1						CAGATTCACTCTCACTCTTCA	0.488		NaN											0	0	0	0.004289	0	37	83				
KRT6B	3854	broad.mit.edu	37	12	52843380	52843380	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:52843380G>T	uc001sak.2	-	5	998	c.950C>A	c.(949-951)TCC>TAC	p.S317Y		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	317	Rod.|Linker 12.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TAGCACCACGGATGTGTCTGA	0.527		NaN											1	0	2.75727e-19	0.004878	3.49206e-19	20	236				
HOXC11	3227	broad.mit.edu	37	12	54367563	54367563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367563G>T	uc001sem.2	+	1	654	c.538G>T	c.(538-540)GAG>TAG	p.E180*		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	180					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCCAAGGGGGAGCCCGAGGC	0.721		NaN	T	NUP98	AML								1	0	0.000157383	0.00308	0.000187454	8	33				
HOXC11	3227	broad.mit.edu	37	12	54367605	54367605	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367605G>A	uc001sem.2	+	1	696	c.580G>A	c.(580-582)GAG>AAG	p.E194K		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	194					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTCCCGGGCTGAGGCGGGTGC	0.756		NaN	T	NUP98	AML								0	0	0	0.001984	0	7	13				
HNRNPA1	3178	broad.mit.edu	37	12	54675946	54675946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54675946G>C	uc001sfl.2	+	4	456	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zng.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009znh.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zni.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfn.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.E73Q|HNRNPA1_uc009znj.1_Missense_Mutation_p.E73Q	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	118	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						AGACACTGAAGAACATCACCT	0.383		NaN											0	0	0	0.00245	0	14	35				
NFE2	4778	broad.mit.edu	37	12	54686808	54686808	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686808G>A	uc009znk.2	-	2	982	c.472C>T	c.(472-474)CTT>TTT	p.L158F	NFE2_uc001sfq.2_Missense_Mutation_p.L158F|NFE2_uc001sfr.3_Missense_Mutation_p.L158F|NFE2_uc009znl.2_Missense_Mutation_p.L158F	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	158	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						TCCAGCTCAAGAGATTCAGCA	0.572		NaN											0	0	0	0.00361	0	48	133				
NFE2	4778	broad.mit.edu	37	12	54686810	54686810	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686810G>A	uc009znk.2	-	2	980	c.470C>T	c.(469-471)TCT>TTT	p.S157F	NFE2_uc001sfq.2_Missense_Mutation_p.S157F|NFE2_uc001sfr.3_Missense_Mutation_p.S157F|NFE2_uc009znl.2_Missense_Mutation_p.S157F	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	157	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						CAGCTCAAGAGATTCAGCATC	0.567		NaN											0	0	0	0.00361	0	50	133				
GPR84	53831	broad.mit.edu	37	12	54756605	54756605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54756605C>G	uc001sfu.2	-	2	1121	c.1031G>C	c.(1030-1032)AGA>ACA	p.R344T		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	344	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						AGCCTGGACTCTGGCATCCAG	0.537		NaN											0	0	0	0.00361	0	66	150				
ERBB3	2065	broad.mit.edu	37	12	56481671	56481671	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56481671T>C	uc001sjh.2	+	6	899	c.706T>C	c.(706-708)TCA>CCA	p.S236P	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S177P|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	236	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGGGGCTGCTCAGGCCCTCA	0.547		NaN											0	0	0	0.00361	0	49	140		Valid		
MYL6	4637	broad.mit.edu	37	12	56553863	56553863	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56553863C>T	uc001sjw.1	+	4	366	c.280C>T	c.(280-282)CGG>TGG	p.R94W	MYL6_uc001sjv.2_Missense_Mutation_p.R94W|MYL6_uc001sjx.1_Missense_Mutation_p.R94W|MYL6_uc010sqd.1_Missense_Mutation_p.R187W|MYL6_uc001sjz.2_Missense_Mutation_p.R59W|MYL6_uc010sqe.1_Missense_Mutation_p.R59W	NM_021019	NP_066299	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and	94	EF-hand 2.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CGAAGGACTTCGGGTGTTTGA	0.512		NaN											0	0	0	0.005443	0	27	63				
TIMELESS	8914	broad.mit.edu	37	12	56822358	56822358	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56822358C>A	uc001slf.2	-	12	1551	c.1383G>T	c.(1381-1383)GTG>GTT	p.V461V	TIMELESS_uc001slg.2_Silent_p.V460V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	461					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TGCTCTCCCTCACAGCCTCAT	0.562		NaN											1	0	0.00136819	0.001368	0.00162558	12	42				
LEMD3	23592	broad.mit.edu	37	12	65639552	65639552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:65639552G>A	uc001ssl.1	+	11	2497	c.2491G>A	c.(2491-2493)GAG>AAG	p.E831K	LEMD3_uc009zqo.1_Missense_Mutation_p.E830K	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	831	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAATTCACGTGAGGTAAAGTA	0.313		NaN											0	0	0	0.002096	0	34	60				
MDM1	56890	broad.mit.edu	37	12	68707440	68707440	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:68707440G>C	uc001stz.2	-	10	1729	c.1593C>G	c.(1591-1593)CTC>CTG	p.L531L	MDM1_uc010stc.1_Silent_p.L496L|MDM1_uc009zqv.1_Silent_p.L251L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	531						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGGAGTAGTGAGATCATGAT	0.408		NaN											0	0	0	0.00278	0	24	158				
TBC1D15	64786	broad.mit.edu	37	12	72316827	72316827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:72316827C>T	uc001swu.2	+	18	1994	c.1985C>T	c.(1984-1986)TCA>TTA	p.S662L	TBC1D15_uc010stt.1_Missense_Mutation_p.S631L|TBC1D15_uc001swv.2_Missense_Mutation_p.S645L|TBC1D15_uc001sww.2_Missense_Mutation_p.S394L	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	640							protein binding|Rab GTPase activator activity				0						ACACCAGATTCAGACGTTGGT	0.428		NaN											0	0	0	0.006122	0	19	142				
LRRIQ1	84125	broad.mit.edu	37	12	85466779	85466779	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:85466779C>T	uc001tac.2	+	11	2901	c.2790C>T	c.(2788-2790)GTC>GTT	p.V930V	LRRIQ1_uc001tab.1_Silent_p.V930V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	930										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TGGCACAAGTCTGGATTCCAA	0.403		NaN											0	0	0	0.00499	0	17	76				
EEA1	8411	broad.mit.edu	37	12	93172980	93172980	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:93172980C>G	uc001tck.2	-	25	3830	c.3565G>C	c.(3565-3567)GAG>CAG	p.E1189Q		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1189	Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TTTCTCTTCTCCTGTTCAACA	0.388		NaN											0	0	0	0.002445	0	34	100				
DEPDC4	120863	broad.mit.edu	37	12	100657378	100657378	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100657378C>G	uc001thi.2	-	2	454	c.451G>C	c.(451-453)GAA>CAA	p.E151Q	DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.E84Q|DEPDC4_uc009ztv.1_Missense_Mutation_p.E151Q|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	151	DEP.				intracellular signal transduction						0						TTGGAATCTTCAAATTCTAAT	0.333		NaN											0	0	0	0.00499	0	18	39				
SLC17A8	246213	broad.mit.edu	37	12	100797851	100797851	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100797851G>A	uc010svi.1	+	9	1402	c.1089G>A	c.(1087-1089)ATG>ATA	p.M363I	SLC17A8_uc009ztx.2_Missense_Mutation_p.M313I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	363	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						ACATGGTTATGACAATCGTTG	0.428		NaN											0	0	0	0.001523	0	20	65				
ALDH1L2	160428	broad.mit.edu	37	12	105456731	105456731	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:105456731C>G	uc001tlc.2	-	7	983	c.856G>C	c.(856-858)GGT>CGT	p.G286R	ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	286					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						TTCTTGGCACCTTTAATTTCC	0.403		NaN											0	0	0	0.008871	0	19	55				
SVOP	55530	broad.mit.edu	37	12	109306319	109306319	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109306319G>C	uc010sxh.1	-	15	1811	c.1639C>G	c.(1639-1641)CAG>GAG	p.Q547E		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	547	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0						CACTATTCCTGAGAGCCAGAG	0.632		NaN											0	0	0	0.00361	0	67	185				
SVOP	55530	broad.mit.edu	37	12	109309593	109309593	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109309593C>G	uc010sxh.1	-	14	1578	c.1406G>C	c.(1405-1407)AGA>ACA	p.R469T		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	469	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0						AGCACCCACTCTTGCCATGCC	0.592		NaN											0	0	0	0.001168	0	4	11				
ERP29	10961	broad.mit.edu	37	12	112460294	112460294	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112460294G>C	uc001ttk.1	+	3	742	c.624G>C	c.(622-624)AAG>AAC	p.K208N	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	208					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						TCATGGGGAAGATCTTAGACC	0.542		NaN											0	0	0	0.00499	0	17	48				
TRAFD1	10906	broad.mit.edu	37	12	112585913	112585913	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112585913C>T	uc001ttp.2	+	8	1049	c.963C>T	c.(961-963)CTC>CTT	p.L321L	TRAFD1_uc001tto.2_Silent_p.L321L|TRAFD1_uc010syj.1_RNA	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	321					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						TACCTTCACTCAATACTGGCA	0.423		NaN											0	0	0	0.003163	0	15	47				
OAS3	4940	broad.mit.edu	37	12	113376424	113376424	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:113376424G>A	uc001tug.2	+	1	176	c.89G>A	c.(88-90)CGG>CAG	p.R30Q	OAS3_uc001tue.2_Missense_Mutation_p.R30Q|OAS3_uc001tuf.2_Missense_Mutation_p.R30Q	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	30	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAGAAGGCGCGGCGCGCTCTG	0.721		NaN											0	0	0	0.001984	0	6	31				
FBXW8	26259	broad.mit.edu	37	12	117402587	117402587	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:117402587G>A	uc001twg.1	+	5	845	c.763G>A	c.(763-765)GAG>AAG	p.E255K	FBXW8_uc001twf.1_Missense_Mutation_p.E189K|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	255	WD 2.						protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGAGGAGGATGAGCCTGGAAT	0.522		NaN											0	0	0	0.008871	0	19	176				
CIT	11113	broad.mit.edu	37	12	120288075	120288075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:120288075G>A	uc001txi.1	-	5	472	c.419C>T	c.(418-420)TCA>TTA	p.S140L	CIT_uc001txj.1_Missense_Mutation_p.S140L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	140	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCAAAAAATGAAACCTAGGG	0.393		NaN											0	0	0	0.00361	0	71	202				
DDX55	57696	broad.mit.edu	37	12	124104529	124104529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124104529G>C	uc001ufi.2	+	14	1669	c.1645G>C	c.(1645-1647)GAG>CAG	p.E549Q	DDX55_uc001ufk.2_Missense_Mutation_p.E402Q|DDX55_uc001ufl.2_Missense_Mutation_p.E156Q	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	549	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TATTGAAGATGAGGACATGGA	0.348		NaN											0	0	0	0.008871	0	19	73				
ATP6V0A2	23545	broad.mit.edu	37	12	124212437	124212437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124212437C>T	uc001ufr.2	+	6	877	c.629C>T	c.(628-630)TCC>TTC	p.S210F	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.S210F	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	210	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTGGATGAATCCCTTGAAGAC	0.408		NaN											0	0	0	0.001168	0	6	64				
DNAH10	196385	broad.mit.edu	37	12	124398924	124398924	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124398924G>A	uc001uft.3	+	60	10072	c.10047G>A	c.(10045-10047)CTG>CTA	p.L3349L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3349					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGCTGCTGGGGGACTGCC	0.607		NaN											0	0	0	0.003954	0	23	74				
SFRS8	6433	broad.mit.edu	37	12	132198734	132198734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:132198734G>C	uc001uja.1	+	2	477	c.337G>C	c.(337-339)GAG>CAG	p.E113Q	SFRS8_uc010tbn.1_Missense_Mutation_p.E113Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Missense_Mutation_p.K2N	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	113					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GTGTGATGAAGAGAGGTATTT	0.453		NaN											0	0	0	0.000602	0	5	35				
GOLGA3	2802	broad.mit.edu	37	12	133381374	133381374	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:133381374C>T	uc001ukz.1	-	7	2084	c.1525G>A	c.(1525-1527)GAG>AAG	p.E509K	GOLGA3_uc001ula.1_Missense_Mutation_p.E509K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E509K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	509	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACTGCTCCTCGGCCACCTGC	0.607		NaN											0	0	0	0.00632	0	28	66				
PARP4	143	broad.mit.edu	37	13	25008601	25008601	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25008601C>T	uc001upl.2	-	31	4784	c.4678G>A	c.(4678-4680)GAA>AAA	p.E1560K		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1560					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACACTATTTCATCCTCTTCT	0.398		NaN											0	0	0	0.003163	0	16	96				
MTMR6	9107	broad.mit.edu	37	13	25826037	25826037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25826037G>A	uc001uqf.3	-	12	1751	c.1432C>T	c.(1432-1434)CAC>TAC	p.H478Y	MTMR6_uc001uqe.1_Missense_Mutation_p.H478Y	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	478	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTAAATCTGTGAGATTCGGAA	0.323		NaN											0	0	0	0.008361	0	29	204				
CDK8	1024	broad.mit.edu	37	13	26928010	26928010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:26928010G>C	uc001uqr.1	+	4	475	c.449G>C	c.(448-450)AGA>ACA	p.R150T	CDK8_uc001uqs.1_Missense_Mutation_p.R150T|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	150	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTGTTGCACAGAGATTTGGTA	0.408		NaN											0	0	0	0.004482	0	7	44				
USPL1	10208	broad.mit.edu	37	13	31232711	31232711	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:31232711C>T	uc001utc.2	+	9	2929	c.2497C>T	c.(2497-2499)CCA>TCA	p.P833S	USPL1_uc001utd.2_Missense_Mutation_p.P504S|USPL1_uc001ute.1_Missense_Mutation_p.P504S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	833					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCAGGCCCTCCATCGTCTAA	0.502		NaN											0	0	0	0.00499	0	14	97				
FRY	10129	broad.mit.edu	37	13	32811517	32811517	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:32811517T>G	uc001utx.2	+	44	6308	c.5812T>G	c.(5812-5814)TCT>GCT	p.S1938A	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATACCCAGCTCTTCCTCACC	0.453		NaN											0	0	0	0.008291	0	10	42				
AKAP11	11215	broad.mit.edu	37	13	42874796	42874796	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:42874796A>G	uc001uys.1	+	8	2089	c.1914A>G	c.(1912-1914)ATA>ATG	p.I638M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	638					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAAGCAGATATTCACAAACA	0.398		NaN											0	0	0	0.00308	0	8	72				
PCDH8	5100	broad.mit.edu	37	13	53421533	53421533	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:53421533C>T	uc001vhi.2	-	1	1242	c.1039G>A	c.(1039-1041)GTC>ATC	p.V347I	PCDH8_uc001vhj.2_Missense_Mutation_p.V347I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	347	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGTCATTGACGTCTCGGATG	0.726		NaN											0	0	0	0.006214	0	8	31				
PCDH9	5101	broad.mit.edu	37	13	67802023	67802023	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:67802023C>A	uc001vik.2	-	2	1242	c.550G>T	c.(550-552)GGG>TGG	p.G184W	PCDH9_uc001vil.2_Missense_Mutation_p.G184W|PCDH9_uc010thl.1_Missense_Mutation_p.G184W|PCDH9_uc001vin.3_Missense_Mutation_p.G184W	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	184	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACACTCTGCCCATTTAACAAT	0.428		NaN											1	0	0.00198382	0.001984	0.00235119	7	141				
ITGBL1	9358	broad.mit.edu	37	13	102235651	102235651	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:102235651T>A	uc001vpb.2	+	6	1032	c.813T>A	c.(811-813)TGT>TGA	p.C271*	ITGBL1_uc010agb.2_Nonsense_Mutation_p.C222*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.C130*	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	271	V.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGTGAATGTGATGAGAGGG	0.443		NaN											0	0	0	0.002445	0	33	141				
MYO16	23026	broad.mit.edu	37	13	109613989	109613989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:109613989C>T	uc001vqt.1	+	18	2200	c.2074C>T	c.(2074-2076)CAG>TAG	p.Q692*	MYO16_uc010agk.1_Nonsense_Mutation_p.Q714*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q492*|MYO16_uc010tjh.1_Nonsense_Mutation_p.Q204*	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	692	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGACCTCCAGCTCCTGGA	0.458		NaN											0	0	0	0.002222	0	40	68				
MCF2L	23263	broad.mit.edu	37	13	113720402	113720402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:113720402G>C	uc001vsu.2	+	8	992	c.970G>C	c.(970-972)GAG>CAG	p.E324Q	MCF2L_uc001vsq.2_Missense_Mutation_p.E324Q|MCF2L_uc010tjr.1_Missense_Mutation_p.E267Q|MCF2L_uc001vsr.2_Missense_Mutation_p.E271Q|MCF2L_uc001vss.3_Missense_Mutation_p.E265Q|MCF2L_uc010tjs.1_Missense_Mutation_p.E265Q|MCF2L_uc001vst.1_Missense_Mutation_p.E229Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	297					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGTGTCCTGGAGAGCCTCAG	0.642		NaN											0	0	0	0.006214	0	9	19				
ATP4B	496	broad.mit.edu	37	13	114309237	114309237	+	Missense_Mutation	SNP	C	C	T	rs142885298	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:114309237C>T	uc001vtz.2	-	2	175	c.133G>A	c.(133-135)GTG>ATG	p.V45M	ATP4B_uc010agy.1_Missense_Mutation_p.V45M	NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	45	Helical; Signal-anchor for type II membrane protein; (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	TAGAAGGCCACGTAGTACAGG	0.428		NaN											0	0	0	0.002836	0	34	51				
PABPN1	8106	broad.mit.edu	37	14	23792231	23792231	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:23792231G>A	uc001wjk.2	+	3	1772	c.490G>A	c.(490-492)GAG>AAG	p.E164K	PABPN1_uc001wjh.3_Missense_Mutation_p.E191K|PABPN1_uc001wjj.2_Missense_Mutation_p.E164K	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	164	Necessary for homooligomerization.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTCCATTGAGGAGAAGAT	0.418		NaN											0	0	0	0.00361	0	62	132				
REC8	9985	broad.mit.edu	37	14	24648862	24648862	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24648862G>C	uc001wmr.2	+	19	1808	c.1381G>C	c.(1381-1383)GAG>CAG	p.E461Q	REC8_uc001wms.2_Missense_Mutation_p.E461Q	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	461	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		TGAACTCCCTGAGGTGCCCAT	0.627		NaN											0	0	0	0.003954	0	27	68				
KHNYN	23351	broad.mit.edu	37	14	24901328	24901328	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24901328C>G	uc001wph.3	+	3	1063	c.861C>G	c.(859-861)CTC>CTG	p.L287L	KHNYN_uc010tpc.1_Silent_p.L328L|KHNYN_uc010alw.2_Silent_p.L287L|CBLN3_uc001wpg.3_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	287										ovary(2)|liver(1)	3						AAGTGGCCCTCAGGCCACAGT	0.627		NaN									OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	8	46				
RALGAPA1	253959	broad.mit.edu	37	14	36096603	36096603	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:36096603C>G	uc001wti.2	-	33	5423	c.5032G>C	c.(5032-5034)GAA>CAA	p.E1678Q	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.E1678Q|RALGAPA1_uc010tpv.1_Missense_Mutation_p.E1691Q|RALGAPA1_uc010tpw.1_Missense_Mutation_p.E1725Q	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1678	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						AGAACATCTTCTTCATCTCTT	0.368		NaN											0	0	0	0.000978	0	11	121				
MGAT2	4247	broad.mit.edu	37	14	50088560	50088560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50088560G>A	uc001wwr.2	+	1	1072	c.574G>A	c.(574-576)GAC>AAC	p.D192N	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	192	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGGTAGTGACCCTAGAGA	0.507		NaN											0	0	0	0.002222	0	45	121				
KLHDC1	122773	broad.mit.edu	37	14	50175883	50175883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50175883G>T	uc001www.2	+	2	131	c.103G>T	c.(103-105)GAA>TAA	p.E35*	SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_5'UTR|KLHDC1_uc010tqh.1_5'UTR	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	35	Kelch 1.					cytoplasm				pancreas(1)	1	all_epithelial(31;0.00244)|Breast(41;0.00964)					TTAGTCTATTGAAGACAATGA	0.289		NaN											1	0	9.31168e-06	0.001855	1.12208e-05	13	74				
GNPNAT1	64841	broad.mit.edu	37	14	53248520	53248520	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:53248520G>A	uc001xab.2	-	4	582	c.327C>T	c.(325-327)TTC>TTT	p.F109F		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	109	Substrate binding.|N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity				0	Breast(41;0.176)					AGGAATGGATGAATTTATGTT	0.358		NaN											0	0	0	0.007291	0	30	106				
FBXO34	55030	broad.mit.edu	37	14	55817300	55817300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817300C>G	uc001xbu.2	+	2	437	c.192C>G	c.(190-192)ATC>ATG	p.I64M	FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.I64M	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	64										ovary(2)|lung(2)|skin(1)	5						CATTTGGGATCCTTTCTCCAA	0.438		NaN											0	0	0	0.00361	0	54	109				
FBXO34	55030	broad.mit.edu	37	14	55817474	55817474	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817474C>G	uc001xbu.2	+	2	611	c.366C>G	c.(364-366)TTC>TTG	p.F122L	FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.F122L	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	122										ovary(2)|lung(2)|skin(1)	5						AAATTGCATTCTTTGCATCCC	0.428		NaN											0	0	0	0.002299	0	23	34				
DAAM1	23002	broad.mit.edu	37	14	59819345	59819345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59819345G>A	uc001xdz.1	+	19	2417	c.2292G>A	c.(2290-2292)ATG>ATA	p.M764I	DAAM1_uc001xea.1_Missense_Mutation_p.M754I|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	764	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTTTGAGATGAGCCGGTGAG	0.398		NaN											0	0	0	0.000248	0	4	14				
DAAM1	23002	broad.mit.edu	37	14	59834201	59834201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59834201G>C	uc001xdz.1	+	25	3036	c.2911G>C	c.(2911-2913)GAG>CAG	p.E971Q	DAAM1_uc001xea.1_Missense_Mutation_p.E961Q|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	971	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACAACCAGATGAGTTCTTTGG	0.378		NaN											0	0	0	0.003163	0	14	62				
SIX1	6495	broad.mit.edu	37	14	61115580	61115580	+	Missense_Mutation	SNP	G	G	A	rs80356459		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:61115580G>A	uc001xfb.3	-	1	576	c.328C>T	c.(328-330)CGG>TGG	p.R110W		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	110			R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction).		branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCGCACCCGATATTTGCCC	0.632		NaN											0	0	0	0.007835	0	43	76				
GPHN	10243	broad.mit.edu	37	14	67291216	67291216	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:67291216G>A	uc001xiy.2	+	4	1347	c.226G>A	c.(226-228)GAA>AAA	p.E76K	GPHN_uc001xiw.2_Intron|GPHN_uc001xix.2_Missense_Mutation_p.E76K|GPHN_uc010tss.1_Missense_Mutation_p.E76K|GPHN_uc010tst.1_Intron|GPHN_uc010tsu.1_5'UTR	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	76	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTGGTGTGATGAAAAGGAACT	0.398		NaN	T	MLL	AL								0	0	0	0.001368	0	11	35				
PCNX	22990	broad.mit.edu	37	14	71479708	71479708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:71479708C>G	uc001xmo.2	+	11	3231	c.2785C>G	c.(2785-2787)CTC>GTC	p.L929V	PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	929						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGCTCTCTCTCCCACAGAT	0.328		NaN											0	0	0	0.006214	0	9	62				
DCAF4	26094	broad.mit.edu	37	14	73404761	73404761	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73404761C>G	uc001xng.2	+	2	295	c.75C>G	c.(73-75)CTC>CTG	p.L25L	DCAF4_uc001xnj.2_Silent_p.L25L|DCAF4_uc010ttr.1_Missense_Mutation_p.S14C|DCAF4_uc001xnh.2_Intron|DCAF4_uc010tts.1_Silent_p.L25L|DCAF4_uc010ttt.1_5'UTR|DCAF4_uc001xni.2_Silent_p.L25L|DCAF4_uc001xnk.2_Silent_p.L25L	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	25						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						GGTTCAGACTCCGTGATTCTG	0.488		NaN											0	0	0	0.004878	0	35	102				
RBM25	58517	broad.mit.edu	37	14	73576063	73576063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73576063C>T	uc001xno.2	+	14	1763	c.1555C>T	c.(1555-1557)CAG>TAG	p.Q519*	RBM25_uc010ttu.1_Nonsense_Mutation_p.Q519*|RBM25_uc001xnp.2_Nonsense_Mutation_p.Q314*	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	519	Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGTGCTCTTCAGAAAAGGTT	0.428		NaN											0	0	0	0.00874	0	37	118				
FAM161B	145483	broad.mit.edu	37	14	74411204	74411204	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:74411204G>C	uc001xpd.1	-	3	865	c.759C>G	c.(757-759)CTC>CTG	p.L253L		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						TCAAAGAAGAGAGGAGCAGTT	0.567		NaN											0	0	0	0.004656	0	26	74				
TMED8	283578	broad.mit.edu	37	14	77808143	77808143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77808143G>C	uc001xto.1	-	6	949	c.949C>G	c.(949-951)CTC>GTC	p.L317V	TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.L161V	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	317	GOLD.				transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGAAGTAGAGAGTCTTGTTG	0.577		NaN											0	0	0	0.002522	0	38	86				
AHSA1	10598	broad.mit.edu	37	14	77934848	77934848	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77934848G>A	uc001xtw.2	+	8	1001	c.841G>A	c.(841-843)GAG>AAG	p.E281K	AHSA1_uc010tvk.1_Missense_Mutation_p.E281K	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	281					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATCTTGGCCAGAGGGTAAGTA	0.279		NaN											0	0	0	0.008871	0	18	61				
EML5	161436	broad.mit.edu	37	14	89124543	89124543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:89124543C>T	uc001xxg.2	-	27	4051	c.3865G>A	c.(3865-3867)GAA>AAA	p.E1289K	EML5_uc001xxf.2_Missense_Mutation_p.E84K|EML5_uc001xxh.1_Missense_Mutation_p.E428K	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1289						cytoplasm|microtubule				ovary(3)	3						CCATCTTCTTCAGAATCAATG	0.363		NaN											0	0	0	0.005443	0	27	77				
DDX24	57062	broad.mit.edu	37	14	94528596	94528596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:94528596C>G	uc001ycj.2	-	3	1189	c.1090G>C	c.(1090-1092)GAG>CAG	p.E364Q	DDX24_uc010twq.1_Missense_Mutation_p.E321Q|DDX24_uc010twr.1_Missense_Mutation_p.E114Q	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	364	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGTCTGCTCTTTATCAAGA	0.483		NaN											0	0	0	0.002852	0	41	110				
DYNC1H1	1778	broad.mit.edu	37	14	102493971	102493971	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102493971G>C	uc001yks.2	+	47	9228	c.9064G>C	c.(9064-9066)GAA>CAA	p.E3022Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3022	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGGTCTCTTTGAAGGAGACGA	0.542		NaN											0	0	0	0.004007	0	17	44				
DYNC1H1	1778	broad.mit.edu	37	14	102502930	102502930	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102502930G>A	uc001yks.2	+	57	11023	c.10859G>A	c.(10858-10860)AGA>AAA	p.R3620K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3620	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GACGCCTTCAGAAAGAACTTA	0.468		NaN											0	0	0	0.007835	0	40	118				
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:22369079C>T	uc010tzu.1	+	1	504	c.504C>T	c.(502-504)TTC>TTT	p.F168F	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493		NaN											0	0	0	0.00361	0	68	406				
MKRN3	7681	broad.mit.edu	37	15	23811021	23811021	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:23811021A>G	uc001ywh.3	+	1	568	c.92A>G	c.(91-93)GAC>GGC	p.D31G	MKRN3_uc001ywi.2_Missense_Mutation_p.D31G|MKRN3_uc010ayi.1_Missense_Mutation_p.D31G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	31						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTGGGCCGGACCTTCCCGTC	0.667		NaN											0	0	0	0.004672	0	3	40				
OCA2	4948	broad.mit.edu	37	15	28277301	28277301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28277301G>T	uc001zbh.3	-	3	346	c.236C>A	c.(235-237)TCT>TAT	p.S79Y	OCA2_uc010ayv.2_Missense_Mutation_p.S79Y	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	79	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGGCAAAGAAGAGTGAGACCT	0.443		NaN							Oculocutaneous_Albinism				1	0	1.75199e-13	0.007291	2.18998e-13	31	82				
HERC2	8924	broad.mit.edu	37	15	28437183	28437183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28437183G>A	uc001zbj.2	-	53	8481	c.8375C>T	c.(8374-8376)TCG>TTG	p.S2792L	HERC2_uc001zbk.1_Missense_Mutation_p.S327L	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2792	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACGGAGGACGACACATTCAG	0.587		NaN									OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	53	166				
ARHGAP11A	9824	broad.mit.edu	37	15	32929006	32929006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32929006C>T	uc001zgy.1	+	12	2754	c.2032C>T	c.(2032-2034)CAA>TAA	p.Q678*	ARHGAP11A_uc010ubw.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_uc010ubx.1_Nonsense_Mutation_p.Q489*	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	678					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCACCCCTTCAAACTCAAAC	0.308		NaN											0	0	0	0.001984	0	7	29				
SCG5	6447	broad.mit.edu	37	15	32988730	32988730	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32988730C>G	uc001zha.2	+	6	676	c.559C>G	c.(559-561)CTA>GTA	p.L187V	SCG5_uc001zgz.2_Missense_Mutation_p.L186V	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	187					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CAATCCATATCTACAAGGACA	0.373		NaN											0	0	0	0.00245	0	13	26				
FAM98B	283742	broad.mit.edu	37	15	38766480	38766480	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:38766480G>C	uc001zkb.1	+	6	745	c.710G>C	c.(709-711)GGA>GCA	p.G237A	FAM98B_uc001zkc.2_Missense_Mutation_p.G237A	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	237						tRNA-splicing ligase complex	protein binding			ovary(1)	1		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CAGTCCTTTGGATGGTCTGAT	0.428		NaN											0	0	0	0.007413	0	18	188				
C15orf23	90417	broad.mit.edu	37	15	40675092	40675092	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:40675092C>T	uc001zll.2	+	1	171	c.56C>T	c.(55-57)TCT>TTT	p.S19F	C15orf23_uc010ucp.1_Missense_Mutation_p.S19F|C15orf23_uc001zlo.2_Missense_Mutation_p.S19F|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	19						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		ACATGGCTGTCTACAGAGTGC	0.592		NaN											0	0	0	0.001168	0	6	44				
NUSAP1	51203	broad.mit.edu	37	15	41648287	41648287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:41648287G>T	uc001zns.3	+	5	729	c.499G>T	c.(499-501)GAT>TAT	p.D167Y	NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.D167Y|NUSAP1_uc010bce.2_Missense_Mutation_p.D167Y|NUSAP1_uc001znt.3_Missense_Mutation_p.D152Y|NUSAP1_uc001znv.3_Missense_Mutation_p.D166Y|NUSAP1_uc001znu.3_Missense_Mutation_p.D166Y|NUSAP1_uc010ucw.1_Missense_Mutation_p.D144Y|NUSAP1_uc001znw.3_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	167					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TCTCTACACAGATGAGTCATC	0.358		NaN											1	0	0.00198382	0.001984	0.00235119	5	20				
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42021428C>T	uc010ucy.1	+	11	3905	c.3724C>T	c.(3724-3726)CGA>TGA	p.R1242*	MGA_uc010ucz.1_Nonsense_Mutation_p.R1242*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1242						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1242P(1)		ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGCTCGAGTTCGAGTATATGA	0.413		NaN											0	0	0	0.001368	0	12	46				
MGA	23269	broad.mit.edu	37	15	42028655	42028655	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028655C>G	uc010ucy.1	+	13	4374	c.4193C>G	c.(4192-4194)TCT>TGT	p.S1398C	MGA_uc010ucz.1_Missense_Mutation_p.S1398C|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1398						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGAAAATCTCTATGCCATCA	0.468		NaN											0	0	0	0.00499	0	17	56				
MGA	23269	broad.mit.edu	37	15	42028795	42028795	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028795C>T	uc010ucy.1	+	13	4514	c.4333C>T	c.(4333-4335)CAT>TAT	p.H1445Y	MGA_uc010ucz.1_Missense_Mutation_p.H1445Y|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1445						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGAGAGATTACATGGAGGCAA	0.493		NaN											0	0	0	0.001855	0	13	47				
MGA	23269	broad.mit.edu	37	15	42042799	42042799	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42042799G>C	uc010ucy.1	+	17	7175	c.6994G>C	c.(6994-6996)GAT>CAT	p.D2332H	MGA_uc010ucz.1_Missense_Mutation_p.D2123H|MGA_uc010uda.1_Missense_Mutation_p.D948H|MGA_uc001zoi.2_Missense_Mutation_p.D546H	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2293	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAGGAGGTTGATGATGTAGA	0.348		NaN											0	0	0	0.001168	0	5	19				
MAPKBP1	23005	broad.mit.edu	37	15	42092064	42092064	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092064G>T	uc001zok.3	+	3	444	c.158G>T	c.(157-159)AGA>ATA	p.R53I	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R53I|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.R53I|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	53										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCTGGAGGCAGAGGACTTGCC	0.498		NaN											1	0	4.79706e-38	0.00361	6.14024e-38	61	169				
MAPKBP1	23005	broad.mit.edu	37	15	42092078	42092078	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092078G>A	uc001zok.3	+	3	458	c.172G>A	c.(172-174)GAC>AAC	p.D58N	MAPKBP1_uc001zoj.3_Missense_Mutation_p.D58N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D58N|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	58										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACTTGCCTGTGACCCCCGATC	0.502		NaN											0	0	0	0.00361	0	57	162				
GANC	2595	broad.mit.edu	37	15	42584941	42584941	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42584941C>T	uc001zpi.2	+	5	652	c.338C>T	c.(337-339)TCA>TTA	p.S113L	GANC_uc001zph.2_Missense_Mutation_p.S113L|GANC_uc001zpj.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	113					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGGCTGATTTCATGCTCTGGG	0.413		NaN											0	0	0	0.005443	0	29	70				
UBR1	197131	broad.mit.edu	37	15	43281096	43281096	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:43281096C>G	uc001zqq.2	-	35	3984	c.3918G>C	c.(3916-3918)TTG>TTC	p.L1306F		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1306					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTGGCACTTTCAATCCAATTC	0.373		NaN											0	0	0	0.003755	0	38	105				
SQRDL	58472	broad.mit.edu	37	15	45965961	45965961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:45965961C>T	uc001zvt.2	+	6	805	c.616C>T	c.(616-618)CAG>TAG	p.Q206*	SQRDL_uc001zvu.2_Nonsense_Mutation_p.Q206*|SQRDL_uc001zvv.2_Nonsense_Mutation_p.Q206*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	206							oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGGAGCCCCTCAGAAGATCAT	0.478		NaN											0	0	0	0.003163	0	15	64				
DMXL2	23312	broad.mit.edu	37	15	51772908	51772908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772908C>G	uc002abf.2	-	24	6620	c.6395G>C	c.(6394-6396)AGA>ACA	p.R2132T	DMXL2_uc002abd.2_Missense_Mutation_p.R202T|DMXL2_uc010ufy.1_Missense_Mutation_p.R2132T|DMXL2_uc010bfa.2_Missense_Mutation_p.R1496T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2132	Potential.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CTGCAATCTTCTTCTTTCTAT	0.423		NaN											0	0	0	0.002836	0	33	136				
DMXL2	23312	broad.mit.edu	37	15	51772963	51772963	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772963C>T	uc002abf.2	-	24	6565	c.6340G>A	c.(6340-6342)GAA>AAA	p.E2114K	DMXL2_uc002abd.2_Missense_Mutation_p.E184K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2114K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1478K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2114						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TCTACCATTTCTTCCTGATCC	0.398		NaN											0	0	0	0.004656	0	25	130				
DMXL2	23312	broad.mit.edu	37	15	51772972	51772972	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772972C>G	uc002abf.2	-	24	6556	c.6331G>C	c.(6331-6333)GAT>CAT	p.D2111H	DMXL2_uc002abd.2_Missense_Mutation_p.D181H|DMXL2_uc010ufy.1_Missense_Mutation_p.D2111H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1475H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2111						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TCTTCCTGATCCAGCAGATCA	0.393		NaN											0	0	0	0.00333	0	22	125				
DMXL2	23312	broad.mit.edu	37	15	51773374	51773374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51773374C>G	uc002abf.2	-	24	6154	c.5929G>C	c.(5929-5931)GAT>CAT	p.D1977H	DMXL2_uc002abd.2_Missense_Mutation_p.D47H|DMXL2_uc010ufy.1_Missense_Mutation_p.D1977H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1341H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1977						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TCACCCCAATCAAGATTAAGA	0.408		NaN											0	0	0	0.00361	0	72	193				
ONECUT1	3175	broad.mit.edu	37	15	53081206	53081206	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:53081206G>C	uc002aci.1	-	1	1004	c.876C>G	c.(874-876)ATC>ATG	p.I292M		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		CTTTGGTATTGATCTCTTCCA	0.627		NaN											0	0	0	0.003755	0	36	101				
ALDH1A2	8854	broad.mit.edu	37	15	58285149	58285149	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:58285149G>A	uc002aex.2	-	6	736	c.678C>T	c.(676-678)ATC>ATT	p.I226I	ALDH1A2_uc002aey.2_Silent_p.I226I|ALDH1A2_uc010ugv.1_Silent_p.I205I|ALDH1A2_uc010ugw.1_Silent_p.I197I|ALDH1A2_uc002aew.2_Silent_p.I130I	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	226					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTACCTCCTTGATGAGGGCTC	0.473		NaN											0	0	0	0.00361	0	48	125				
VPS13C	54832	broad.mit.edu	37	15	62283250	62283250	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:62283250G>T	uc002agz.2	-	18	1601	c.1527C>A	c.(1525-1527)TTC>TTA	p.F509L	VPS13C_uc002aha.2_Missense_Mutation_p.F466L|VPS13C_uc002ahb.1_Missense_Mutation_p.F509L|VPS13C_uc002ahc.1_Missense_Mutation_p.F466L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	509					protein localization					ovary(2)	2						CAATGGCAGTGAAGAGTTTAT	0.299		NaN											1	0	2.32416e-17	0.002299	2.93836e-17	21	97				
ANKDD1A	348094	broad.mit.edu	37	15	65239700	65239700	+	Missense_Mutation	SNP	C	C	T	rs145708523	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:65239700C>T	uc002aoa.2	+	13	1267	c.1238C>T	c.(1237-1239)TCT>TTT	p.S413F	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.S290F	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	413	Death.				signal transduction					ovary(1)	1						CAGCTCCGTTCTGTGCTGTGG	0.592		NaN											0	0	0	0.000978	0	9	20				
NOX5	79400	broad.mit.edu	37	15	69325600	69325600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:69325600G>C	uc002ars.1	+	5	858	c.838G>C	c.(838-840)GAC>CAC	p.D280H	NOX5_uc002arp.1_Missense_Mutation_p.D262H|NOX5_uc002arq.1_Missense_Mutation_p.D234H|NOX5_uc010bid.1_Missense_Mutation_p.D245H|NOX5_uc002arr.1_Missense_Mutation_p.D252H|NOX5_uc010bie.1_Missense_Mutation_p.D80H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	280	Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						CCTCAACTTCGACTGCAGCTT	0.647		NaN											0	0	0	0.000978	0	10	40				
LRRC49	54839	broad.mit.edu	37	15	71256227	71256227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:71256227C>T	uc002asw.2	+	9	1124	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	LRRC49_uc002asu.2_Nonsense_Mutation_p.Q283*|LRRC49_uc002asx.2_Nonsense_Mutation_p.Q249*|LRRC49_uc010ukf.1_Nonsense_Mutation_p.Q298*|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Nonsense_Mutation_p.Q265*	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	293	LRRCT.					cytoplasm|microtubule				ovary(1)	1						CACTGTCCTTCAGAATATGAT	0.463		NaN											0	0	0	0.00361	0	59	140				
ISLR2	57611	broad.mit.edu	37	15	74427127	74427127	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:74427127G>C	uc002axd.2	+	4	2801	c.2032G>C	c.(2032-2034)GAT>CAT	p.D678H	ISLR2_uc002axe.2_Missense_Mutation_p.D678H|ISLR2_uc010bjg.2_Missense_Mutation_p.D678H|ISLR2_uc010bjf.2_Missense_Mutation_p.D678H	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	678	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GGAGGGCCTTGATGAAGACGC	0.667		NaN									OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.002299	0	23	52				
CYP1A1	1543	broad.mit.edu	37	15	75014950	75014950	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75014950C>T	uc002ayp.3	-	2	611	c.489G>A	c.(487-489)GTG>GTA	p.V163V	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.V163V|CYP1A1_uc010bjy.2_Silent_p.V163V|CYP1A1_uc010bjz.1_Intron	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	163					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCTCCTTGCTCACATGCTCTT	0.582		NaN							Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				0	0	0	0.002836	0	34	110				
CSPG4	1464	broad.mit.edu	37	15	75977247	75977247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75977247C>T	uc002baw.2	-	5	4372	c.4279G>A	c.(4279-4281)GAG>AAG	p.E1427K		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1427	CSPG 9.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						ATCAGCTGCTCTTCCACCTAG	0.552		NaN											0	0	0	0.008871	0	18	62				
FANCI	55215	broad.mit.edu	37	15	89835963	89835963	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89835963G>C	uc010bnp.1	+	21	2127	c.2037G>C	c.(2035-2037)AAG>AAC	p.K679N	FANCI_uc002bnm.1_Missense_Mutation_p.K679N|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.K500N|FANCI_uc002bnq.1_Missense_Mutation_p.K92N	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	679					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTGGTATAAGAATACAGTCA	0.289		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.00632	0	29	58				
FANCI	55215	broad.mit.edu	37	15	89836185	89836185	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89836185G>C	uc010bnp.1	+	22	2272	c.2182G>C	c.(2182-2184)GAT>CAT	p.D728H	FANCI_uc002bnm.1_Missense_Mutation_p.D728H|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.D549H|FANCI_uc002bnq.1_Missense_Mutation_p.D141H	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	728					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAAATCAGCAGATTTTTCTCA	0.328		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.007291	0	29	88				
C15orf42	90381	broad.mit.edu	37	15	90168528	90168528	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90168528G>C	uc002boe.2	+	20	4987	c.4987G>C	c.(4987-4989)GAT>CAT	p.D1663H	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1663					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ATTTCAAACAGATGGGGTTCC	0.592		NaN											0	0	0	0.006214	0	10	92				
TTLL13	440307	broad.mit.edu	37	15	90799463	90799463	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90799463C>T	uc002bpd.1	+	6	927	c.639C>T	c.(637-639)TTC>TTT	p.F213F	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	213	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GTGGCATCTTCATTACCCGAA	0.537		NaN											0	0	0	0.001855	0	10	126				
NGRN	51335	broad.mit.edu	37	15	90808999	90808999	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90808999C>T	uc002bpf.1	+	1	105	c.55C>T	c.(55-57)CGC>TGC	p.R19C	TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	neugrin	19					neuron differentiation	extracellular region|nucleus				large_intestine(2)|ovary(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGCCGTCACTCGCTGTGGGTT	0.692		NaN											0	0	0	0.00245	0	12	36				
MAN2A2	4122	broad.mit.edu	37	15	91456191	91456191	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:91456191C>A	uc010bnz.2	+	17	2669	c.2554C>A	c.(2554-2556)CAC>AAC	p.H852N	MAN2A2_uc002bqc.2_Missense_Mutation_p.H852N|MAN2A2_uc010uql.1_Missense_Mutation_p.H514N|MAN2A2_uc010uqm.1_Missense_Mutation_p.H431N|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	852					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGAGCACATTCACCAGGCGGT	0.567		NaN											1	0	1.10923e-09	0.00278	1.36521e-09	23	65				
LRRK1	79705	broad.mit.edu	37	15	101588736	101588736	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101588736G>A	uc002bwr.2	+	22	3492	c.3173G>A	c.(3172-3174)AGG>AAG	p.R1058K	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1058					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAGGAACAGGAAAGTCACC	0.448		NaN											0	0	0	0.004656	0	26	108				
LRRK1	79705	broad.mit.edu	37	15	101601442	101601442	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101601442G>A	uc002bwr.2	+	30	5065	c.4746G>A	c.(4744-4746)ATG>ATA	p.M1582I	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1582					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCTGGGATGAAGGTGAGCT	0.612		NaN											0	0	0	0.00245	0	13	41				
CHSY1	22856	broad.mit.edu	37	15	101718818	101718818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101718818C>T	uc002bwt.1	-	4	1667	c.1184G>A	c.(1183-1185)AGA>AAA	p.R395K	CHSY1_uc010usd.1_Missense_Mutation_p.R123K	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	395	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCCATTCCTCTTCGAGGGGG	0.542		NaN											0	0	0	0.004289	0	35	73				
TARSL2	123283	broad.mit.edu	37	15	102255153	102255153	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:102255153C>G	uc002bxm.2	-	4	635	c.580G>C	c.(580-582)GAA>CAA	p.E194Q	TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	194					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCGTGCTTTCAGCCAGTTCC	0.403		NaN											0	0	0	0.001368	0	11	62				
STUB1	10273	broad.mit.edu	37	16	731803	731803	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:731803G>C	uc002cit.2	+	4	946	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	STUB1_uc002ciu.2_Missense_Mutation_p.E107Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	179					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				GGAGCTGGAAGAGTGCCAGCG	0.627		NaN											0	0	0	0.001882	0	21	55				
HN1L	90861	broad.mit.edu	37	16	1741917	1741917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1741917G>A	uc002cmg.2	+	3	303	c.267G>A	c.(265-267)GGG>GGA	p.G89G	HN1L_uc010uvi.1_Silent_p.G117G|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Intron|HN1L_uc010uvj.1_Intron|HN1L_uc010uvk.1_Silent_p.G76G	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	89						cytoplasm|nucleus				upper_aerodigestive_tract(1)	1						CACCTGGAGGGAAGACCAGCG	0.542		NaN											0	0	0	0.007413	0	16	74				
MAPK8IP3	23162	broad.mit.edu	37	16	1810466	1810466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1810466G>C	uc002cmk.2	+	12	1507	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	MAPK8IP3_uc002cml.2_Missense_Mutation_p.E457Q|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E464Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	463	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GGGCGAGTTGGAGGCTGCTAA	0.537		NaN											0	0	0	0.005524	0	37	89				
PDPK1	5170	broad.mit.edu	37	16	2647748	2647748	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:2647748C>G	uc002cqs.2	+	14	1795	c.1651C>G	c.(1651-1653)CCG>GCG	p.P551A	PDPK1_uc002cqt.2_Missense_Mutation_p.P424A|PDPK1_uc010bsn.2_3'UTR|PDPK1_uc002cqu.2_Missense_Mutation_p.P524A	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	551					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGCCACCCGGACGCCGC	0.662		NaN											0	0	0	0.00245	0	14	35				
THOC6	79228	broad.mit.edu	37	16	3077242	3077242	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3077242C>T	uc002ctb.2	+	11	1067	c.771C>T	c.(769-771)ATC>ATT	p.I257I	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.I257I|THOC6_uc002ctc.2_Silent_p.I233I|THOC6_uc002cta.2_Silent_p.I233I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	257	WD 6.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						TCTTCCCCATCCGGGCGCCAC	0.637		NaN											0	0	0	0.004289	0	38	87				
CREBBP	1387	broad.mit.edu	37	16	3777746	3777746	+	Silent	SNP	C	C	T	rs144609433	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3777746C>T	uc002cvv.2	-	31	7506	c.7302G>A	c.(7300-7302)ACG>ACA	p.T2434T	CREBBP_uc002cvw.2_Silent_p.T2396T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2434					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTCTCTAGCGTGTCCCCCG	0.552		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.00361	0	66	131				
GSPT1	2935	broad.mit.edu	37	16	11980398	11980398	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:11980398G>A	uc002dbr.2	-	7	796	c.769C>T	c.(769-771)CAC>TAC	p.H257Y	GSPT1_uc002dbu.2_Missense_Mutation_p.H394Y|GSPT1_uc002dbt.2_Missense_Mutation_p.H395Y|GSPT1_uc010bux.2_Missense_Mutation_p.H257Y	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	G1 to S phase transition 1 isoform 3	257					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GGCATAAAGTGAATGTCCTTT	0.348		NaN											0	0	0	0.002299	0	24	64				
NOMO1	23420	broad.mit.edu	37	16	14951394	14951394	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:14951394G>C	uc002dcv.2	+	11	1168	c.1102G>C	c.(1102-1104)GAG>CAG	p.E368Q		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	368	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						ATTCCGCCTTGAGAACATAAC	0.428		NaN											0	0	0	0.006999	0	29	73				
KIAA0430	9665	broad.mit.edu	37	16	15718772	15718772	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:15718772G>C	uc002ddr.2	-	10	2317	c.2124C>G	c.(2122-2124)CTC>CTG	p.L708L	KIAA0430_uc002ddq.2_Silent_p.L564L|KIAA0430_uc010uzv.1_Silent_p.L704L|KIAA0430_uc010uzw.1_Silent_p.L706L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	707						peroxisome	nucleotide binding|RNA binding				0						TTCGGGCACTGAGGTTCTCCT	0.408		NaN											0	0	0	0.002445	0	32	66				
SMG1	23049	broad.mit.edu	37	16	18856931	18856931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:18856931C>G	uc002dfm.2	-	39	6402	c.6039G>C	c.(6037-6039)TTG>TTC	p.L2013F	SMG1_uc010bwb.2_Missense_Mutation_p.L1873F|SMG1_uc010bwa.2_Missense_Mutation_p.L744F|SMG1_uc002dfo.3_Missense_Mutation_p.L311F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2013					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGGGCTTCATCAAAGCTGTGT	0.388		NaN											0	0	0	0.003755	0	32	150				
C16orf88	400506	broad.mit.edu	37	16	19726086	19726086	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:19726086C>G	uc002dgq.2	-	2	287	c.272G>C	c.(271-273)AGA>ACA	p.R91T	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	91	Lys-rich.					nucleolus					0						CTCTGTCCGTCTAGCAGGCAG	0.473		NaN											0	0	0	0.006122	0	17	92				
DNAH3	55567	broad.mit.edu	37	16	21132097	21132097	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:21132097C>G	uc010vbe.1	-	11	1663	c.1663G>C	c.(1663-1665)GAG>CAG	p.E555Q	DNAH3_uc002die.2_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	555	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATGCTGGGCTCTCCTGGCTCA	0.507		NaN											0	0	0	0.004007	0	15	38				
VWA3A	146177	broad.mit.edu	37	16	22157565	22157565	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:22157565G>C	uc010vbq.1	+	27	2835	c.2739G>C	c.(2737-2739)GTG>GTC	p.V913V	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_5'UTR|VWA3A_uc010bxe.1_5'UTR	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	913						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		AGGGAGTGGTGAGACACATCC	0.532		NaN											0	0	0	0.008291	0	10	24				
USP31	57478	broad.mit.edu	37	16	23096215	23096215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:23096215G>A	uc002dll.2	-	11	1796	c.1796C>T	c.(1795-1797)TCC>TTC	p.S599F	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	599					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GAAACACTGGGATAAAGTGCA	0.488		NaN											0	0	0	0.00361	0	114	280				
TNRC6A	27327	broad.mit.edu	37	16	24801938	24801938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24801938C>G	uc002dmm.2	+	6	2089	c.1975C>G	c.(1975-1977)CAA>GAA	p.Q659E	TNRC6A_uc010bxs.2_Missense_Mutation_p.Q406E|TNRC6A_uc010vcc.1_Missense_Mutation_p.Q406E|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q406E|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q406E	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	659	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GACAAATGAGCAAAGCAGTGT	0.468		NaN											0	0	0	0.006122	0	19	52				
TNRC6A	27327	broad.mit.edu	37	16	24802034	24802034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24802034C>T	uc002dmm.2	+	6	2185	c.2071C>T	c.(2071-2073)CAG>TAG	p.Q691*	TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc010vcc.1_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q438*	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	691	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAAAGTCAGAGTAGAGA	0.473		NaN											0	0	0	0.00278	0	23	55				
SULT1A2	6799	broad.mit.edu	37	16	28603594	28603594	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:28603594G>A	uc002dqg.1	-	7	1116	c.765C>T	c.(763-765)TTC>TTT	p.F255F	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.F255F	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CTTTCCTCATGAAGGGGGAGA	0.602		NaN											0	0	0	0.00361	0	45	152				
SRCAP	10847	broad.mit.edu	37	16	30723652	30723652	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:30723652C>G	uc002dze.1	+	13	2270	c.1885C>G	c.(1885-1887)CTG>GTG	p.L629V	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L486V|SRCAP_uc010bzz.1_Missense_Mutation_p.L199V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	629					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCTAGACTGGCTGGTTACCAT	0.522		NaN											0	0	0	0.001168	0	6	155		Valid		
ZNF668	79759	broad.mit.edu	37	16	31075325	31075325	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31075325G>A	uc010caf.2	-	2	813	c.456C>T	c.(454-456)CTC>CTT	p.L152L	ZNF668_uc002eao.2_Silent_p.L152L|ZNF668_uc010cag.1_Silent_p.L152L	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	152	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						TGAGCTTGGAGAGCGCGCCAT	0.672		NaN											0	0	0	0.001368	0	11	16				
SLC5A2	6524	broad.mit.edu	37	16	31500575	31500575	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31500575C>G	uc002ecf.3	+	12	1600	c.1581C>G	c.(1579-1581)CTC>CTG	p.L527L	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	527	Helical; (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TGCACTACCTCTACTTCGCCA	0.642		NaN											0	0	0	0.001855	0	13	43				
ABCC11	85320	broad.mit.edu	37	16	48237196	48237196	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48237196G>C	uc002eff.1	-	13	2171	c.1821C>G	c.(1819-1821)CTC>CTG	p.L607L	ABCC11_uc002efg.1_Silent_p.L607L|ABCC11_uc002efh.1_Silent_p.L607L|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	607	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGCAGTGGAGCACCTGGA	0.582		NaN							Cerumen_Type				0	0	0	0.006214	0	8	10				
LONP2	83752	broad.mit.edu	37	16	48329968	48329968	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48329968C>T	uc002efi.1	+	9	1515	c.1426C>T	c.(1426-1428)CTA>TTA	p.L476L	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L432L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	476					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						AGATCATTATCTAAATGTGGC	0.393		NaN											0	0	0	0.00361	0	61	167				
N4BP1	9683	broad.mit.edu	37	16	48595368	48595368	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48595368C>G	uc002efp.2	-	2	1423	c.1186G>C	c.(1186-1188)GAA>CAA	p.E396Q		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	396					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GCTGAAAATTCTCTGTCTTCT	0.348		NaN											0	0	0	0.002299	0	23	47				
CHD9	80205	broad.mit.edu	37	16	53338321	53338321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53338321G>C	uc002ehb.2	+	30	6567	c.6403G>C	c.(6403-6405)GAC>CAC	p.D2135H	CHD9_uc002egy.2_Missense_Mutation_p.D2135H|CHD9_uc002ehc.2_Missense_Mutation_p.D2135H|CHD9_uc002ehf.2_Missense_Mutation_p.D1249H|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.D141H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2135	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTCTGATTCTGACTCAGATTC	0.438		NaN											0	0	0	0.001984	0	6	20				
CHD9	80205	broad.mit.edu	37	16	53352139	53352139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53352139G>A	uc002ehb.2	+	36	7764	c.7600G>A	c.(7600-7602)GAG>AAG	p.E2534K	CHD9_uc002egy.2_Missense_Mutation_p.E2518K|CHD9_uc002ehc.2_Missense_Mutation_p.E2519K|CHD9_uc002ehf.2_Missense_Mutation_p.E1632K|CHD9_uc010cbw.2_Missense_Mutation_p.E600K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2534					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GCAGCTTCATGAGGGAAGACC	0.338		NaN											0	0	0	0.001368	0	12	33				
RBL2	5934	broad.mit.edu	37	16	53498194	53498194	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53498194C>G	uc002ehi.3	+	12	1735	c.1617C>G	c.(1615-1617)GTC>GTG	p.V539V	RBL2_uc010vgv.1_Silent_p.V465V|RBL2_uc002ehj.2_Silent_p.V249V|RBL2_uc010vgw.1_Silent_p.V323V	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	539	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCTTGAGGTCGTCACTTTTT	0.323		NaN											0	0	0	0.004672	0	3	54				
IRX5	10265	broad.mit.edu	37	16	54967645	54967645	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:54967645C>T	uc002ehv.2	+	3	1312	c.1312C>T	c.(1312-1314)CAT>TAT	p.H438Y	IRX5_uc002ehw.2_Missense_Mutation_p.H372Y	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	438					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						TCCGGGGTCTCATTTCAATGG	0.592		NaN											0	0	0	0.008361	0	31	88				
CCDC135	84229	broad.mit.edu	37	16	57732921	57732921	+	Silent	SNP	C	C	T	rs116591936	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57732921C>T	uc002emi.2	+	3	452	c.363C>T	c.(361-363)AAC>AAT	p.N121N	CCDC135_uc002emj.2_Silent_p.N121N|CCDC135_uc002emk.2_Silent_p.N121N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	121						cytoplasm				central_nervous_system(1)	1						ACCCCCTGAACGAGTGTGAAG	0.647		NaN											0	0	0	0.001786	0	29	219				
CNGB1	1258	broad.mit.edu	37	16	57957231	57957231	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57957231G>C	uc002emt.2	-	18	1654	c.1589C>G	c.(1588-1590)CCA>CGA	p.P530R	CNGB1_uc010cdh.2_Missense_Mutation_p.P524R	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	530	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GGACTCTGCTGGTGACAACGC	0.582		NaN											0	0	0	0.001984	0	6	83				
PRSS54	221191	broad.mit.edu	37	16	58319877	58319877	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58319877C>T	uc002enf.2	-	5	881	c.486G>A	c.(484-486)CAG>CAA	p.Q162Q	PRSS54_uc002eng.2_Silent_p.Q162Q|PRSS54_uc010vie.1_Silent_p.Q63Q	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	162	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCCAGCAGTTCTGCAAGACTG	0.547		NaN											0	0	0	0.005443	0	28	77				
CNOT1	23019	broad.mit.edu	37	16	58621270	58621270	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58621270G>C	uc002env.2	-	5	650	c.357C>G	c.(355-357)CTC>CTG	p.L119L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L119L|CNOT1_uc002enx.2_Silent_p.L119L|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	119					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCTTAATTTGAGCACTTTAC	0.323		NaN											0	0	0	0.006122	0	15	118				
CDH5	1003	broad.mit.edu	37	16	66426236	66426236	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:66426236G>C	uc002eom.3	+	7	1323	c.1167G>C	c.(1165-1167)CTG>CTC	p.L389L	CDH5_uc002eon.1_Silent_p.L389L	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	389	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGAAGCCTCTGATTGGCACAG	0.537		NaN											0	0	0	0.006999	0	41	120				
GFOD2	81577	broad.mit.edu	37	16	67709505	67709505	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67709505C>T	uc002eub.2	-	3	1006	c.711G>A	c.(709-711)GTG>GTA	p.V237V	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.V132V	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	237						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGTTGAGTGTCACTGTGCTAC	0.587		NaN											0	0	0	0.001523	0	22	60				
EDC4	23644	broad.mit.edu	37	16	67918030	67918030	+	Silent	SNP	C	C	T	rs142793660	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67918030C>T	uc002eur.2	+	29	4351	c.4185C>T	c.(4183-4185)CTC>CTT	p.L1395L	EDC4_uc010cer.2_Silent_p.L1014L|EDC4_uc002eus.2_Silent_p.L1125L|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1395					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCATGGCCTCGTGACCCCCA	0.627		NaN									OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978	0	11	20				
PLA2G15	23659	broad.mit.edu	37	16	68293167	68293167	+	Silent	SNP	C	C	T	rs142263893		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:68293167C>T	uc002evr.2	+	6	929	c.846C>T	c.(844-846)TTC>TTT	p.F282F	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.F188F|PLA2G15_uc010vlf.1_Silent_p.F82F|PLA2G15_uc002evs.2_Silent_p.F103F	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	282					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						AGAAGGTGTTCGTGCAGACAC	0.577		NaN											0	0	0	0.001523	0	21	64				
SF3B3	23450	broad.mit.edu	37	16	70589022	70589022	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70589022G>C	uc002ezf.2	+	13	1834	c.1623G>C	c.(1621-1623)AAG>AAC	p.K541N		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	541					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CCCCTGGAAAGAAAACAATTG	0.453		NaN											0	0	0	0.003214	0	46	93				
HYDIN	54768	broad.mit.edu	37	16	70843806	70843806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70843806C>T	uc002ezr.2	-	85	14888	c.14760G>A	c.(14758-14760)CTG>CTA	p.L4920L	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4921										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GCGTGGCTTTCAGATAGAGCT	0.468		NaN											0	0	0	0.00361	0	196	479				
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:71571634G>A	uc002fan.2	+	2	1235	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N	CHST4_uc002fao.2_Missense_Mutation_p.D352N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	352	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGCCTGTGGCGATGCCATGAA	0.512		NaN									OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	14	77				
PMFBP1	83449	broad.mit.edu	37	16	72156877	72156877	+	Missense_Mutation	SNP	C	C	T	rs145484256		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:72156877C>T	uc002fcc.3	-	19	2891	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K	PMFBP1_uc002fcd.2_Missense_Mutation_p.E902K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E757K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	907										ovary(2)	2		Ovarian(137;0.179)				CCTAGTTTCTCATTGGCGACC	0.532		NaN											0	0	0	0.004656	0	25	80				
MLKL	197259	broad.mit.edu	37	16	74706420	74706420	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74706420G>C	uc002fdb.2	-	11	1839	c.1398C>G	c.(1396-1398)CTC>CTG	p.L466L	MLKL_uc002fdc.2_Silent_p.L258L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	466	Protein kinase.						ATP binding|protein binding|protein kinase activity			stomach(2)	2						AAAAGGTGGAGAGTTTCTTTA	0.408		NaN											0	0	0	0.00361	0	53	160				
WDR59	79726	broad.mit.edu	37	16	74920244	74920244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74920244C>A	uc002fdh.1	-	24	2572	c.2470G>T	c.(2470-2472)GAA>TAA	p.E824*	WDR59_uc002fdf.1_Nonsense_Mutation_p.E269*|WDR59_uc002fdg.1_Nonsense_Mutation_p.E416*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	824										ovary(1)|breast(1)	2						CGGAGCTCTTCTGGTGAGGAT	0.527		NaN											1	0	6.53348e-20	0.003755	8.28917e-20	35	86				
VAT1L	57687	broad.mit.edu	37	16	77822778	77822778	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:77822778C>G	uc002ffg.1	+	1	296	c.199C>G	c.(199-201)CAG>GAG	p.Q67E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	67							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						GCCCGAGCCTCAGGACGGCGA	0.672		NaN											0	0	0	0.001984	0	6	13				
PLCG2	5336	broad.mit.edu	37	16	81960752	81960752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:81960752C>G	uc002fgt.2	+	23	2635	c.2483C>G	c.(2482-2484)TCA>TGA	p.S828*		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	828	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GAGGACATCTCAACTGCAGAC	0.527		NaN											0	0	0	0.00361	0	59	144				
MPHOSPH6	10200	broad.mit.edu	37	16	82197748	82197748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:82197748C>T	uc002fgw.2	-	2	152	c.103G>A	c.(103-105)GAA>AAA	p.E35K		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	35	Poly-Glu.				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0						ATTTTCTTTTCTTCTTCTTCT	0.353		NaN											0	0	0	0.00278	0	22	58				
KIAA0513	9764	broad.mit.edu	37	16	85120761	85120761	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:85120761A>G	uc002fiu.2	+	12	1395	c.1175A>G	c.(1174-1176)AAC>AGC	p.N392S	KIAA0513_uc010voj.1_Missense_Mutation_p.N382S	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	392						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGATTGGCAACCTGGATGAA	0.602		NaN									OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	14	51				
IL17C	27189	broad.mit.edu	37	16	88706324	88706324	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706324C>G	uc002fla.2	+	3	487	c.438C>G	c.(436-438)CTC>CTG	p.L146L		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	146					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CAGCTGCGCTCAACTCCGTGC	0.687		NaN											0	0	0	0.000978	0	12	25				
IL17C	27189	broad.mit.edu	37	16	88706361	88706361	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706361C>T	uc002fla.2	+	3	524	c.475C>T	c.(475-477)CGC>TGC	p.R159C		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	159					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTGGTGCTGCGCCGCCGGCC	0.701		NaN											0	0	0	0.00499	0	17	38				
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89611106G>T	uc002fnj.2	+	10	1396	c.1375G>T	c.(1375-1377)GAC>TAC	p.D459Y	SPG7_uc002fnk.1_RNA	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	459	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602		NaN											1	0	9.39024e-22	0.002222	1.19346e-21	44	87				
SPIRE2	84501	broad.mit.edu	37	16	89929889	89929889	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89929889C>T	uc002foz.1	+	11	1633	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F	SPIRE2_uc010ciw.1_Silent_p.F527F|SPIRE2_uc002fpa.1_Silent_p.F479F|SPIRE2_uc010cix.1_Silent_p.F394F	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	527					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTAGGAGTTCAGCCACCCCG	0.597		NaN											0	0	0	0.001368	0	12	36				
SMG6	23293	broad.mit.edu	37	17	2202598	2202598	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:2202598G>A	uc002fub.1	-	2	1504	c.1449C>T	c.(1447-1449)GTC>GTT	p.V483V	SMG6_uc002fud.1_Silent_p.V452V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	483	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						ATGTAGGGCTGACTTCATCAT	0.512		NaN											0	0	0	0.00361	0	102	157				
OR1G1	8390	broad.mit.edu	37	17	3030061	3030061	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3030061G>C	uc002fvc.1	-	1	785	c.785C>G	c.(784-786)TCT>TGT	p.S262C		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGTTGAGGGAGAACTGAAATC	0.483		NaN											0	0	0	0.007413	0	19	35				
CAMKK1	84254	broad.mit.edu	37	17	3779565	3779565	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3779565G>A	uc002fwt.2	-	10	1042	c.948C>T	c.(946-948)TTC>TTT	p.F316F	CAMKK1_uc002fwu.2_Silent_p.F316F|CAMKK1_uc002fwv.2_Silent_p.F354F	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	316	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGGGGGCCATGAATGCTGGGG	0.627		NaN											0	0	0	0.001882	0	21	37				
MYBBP1A	10514	broad.mit.edu	37	17	4451467	4451467	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:4451467G>A	uc002fyb.3	-	12	1757	c.1695C>T	c.(1693-1695)TTC>TTT	p.F565F	MYBBP1A_uc002fxz.3_Silent_p.F565F	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	565	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GCTGCGCAGTGAAGGGTGTCA	0.662		NaN											0	0	0	0.002299	0	22	34				
EIF4A1	1973	broad.mit.edu	37	17	7480991	7480991	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7480991G>T	uc002gho.1	+	16	2198	c.873G>T	c.(871-873)AAG>AAT	p.K291N	EIF4A1_uc002ghr.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghq.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghp.1_Missense_Mutation_p.K291N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	291	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						TCACCGAGAAGATGCATGCTC	0.547		NaN											1	0	2.98393e-07	0.00278	3.61689e-07	23	107				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7577099C>G	uc002gim.2	-	8	1033	c.839G>C	c.(838-840)AGA>ACA	p.R280T	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.000978	0	12	20		Valid		
CYB5D1	124637	broad.mit.edu	37	17	7761959	7761959	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7761959G>A	uc002gjb.3	+	3	662	c.273G>A	c.(271-273)CTG>CTA	p.L91L	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.L91L	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	91	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				CCGGCTGCCTGAGGTACTGCA	0.627		NaN									OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	54	77				
PIK3R5	23533	broad.mit.edu	37	17	8794166	8794166	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:8794166C>G	uc002glt.2	-	7	613	c.546G>C	c.(544-546)CTG>CTC	p.L182L	PIK3R5_uc010vuz.1_Silent_p.L182L|PIK3R5_uc002glu.3_Intron|PIK3R5_uc010coa.1_Silent_p.L182L|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	182					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CGGGCGTACTCAGCTTATTGG	0.647		NaN											0	0	0	0.004482	0	9	29				
MYH3	4621	broad.mit.edu	37	17	10543550	10543550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:10543550G>C	uc002gmq.1	-	21	2522	c.2445C>G	c.(2443-2445)ATC>ATG	p.I815M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	815					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGTTGTACTGGATGCAGAAGA	0.478		NaN											0	0	0	0.006122	0	18	42				
ZNF624	57547	broad.mit.edu	37	17	16525625	16525625	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16525625G>C	uc010cpi.1	-	6	2658	c.2575C>G	c.(2575-2577)CAA>GAA	p.Q859E		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTTTCTCTTTGATGTATTCTT	0.323		NaN											0	0	0	0.00278	0	21	69				
CCDC144A	9720	broad.mit.edu	37	17	16612919	16612919	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16612919G>C	uc002gqk.1	+	5	1624	c.1548G>C	c.(1546-1548)TTG>TTC	p.L516F	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	516	Potential.										0						TCCTGGCTTTGAAGAAAGAAG	0.353		NaN											0	0	0	0.00361	0	61	104				
SREBF1	6720	broad.mit.edu	37	17	17716007	17716007	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:17716007G>C	uc002gru.1	-	19	3567	c.3373C>G	c.(3373-3375)CGC>GGC	p.R1125G	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R744G|SREBF1_uc002grq.1_Missense_Mutation_p.R644G|SREBF1_uc002grr.1_Missense_Mutation_p.R871G|SREBF1_uc002grs.1_Missense_Mutation_p.R1101G|SREBF1_uc002grt.1_Missense_Mutation_p.R1155G	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	1125	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						AGCAGCCGGCGATCGCCAAGC	0.706		NaN											0	0	0	0.004672	0	3	12				
ALDH3A1	218	broad.mit.edu	37	17	19642974	19642974	+	Silent	SNP	G	G	A	rs151020632		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:19642974G>A	uc010cqu.2	-	7	1293	c.963C>T	c.(961-963)CTC>CTT	p.L321L	ALDH3A1_uc010vzd.1_Silent_p.L321L|ALDH3A1_uc002gwj.2_Silent_p.L321L|ALDH3A1_uc010cqv.2_Silent_p.L320L|ALDH3A1_uc002gwk.2_Silent_p.L438L|ALDH3A1_uc002gwl.1_Silent_p.L248L	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	321					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACGTCCGTGAGGATGGTGG	0.642		NaN											0	0	0	0.004007	0	14	47				
TMEM11	8834	broad.mit.edu	37	17	21102080	21102080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:21102080C>G	uc002gyp.2	-	2	579	c.136G>C	c.(136-138)GAG>CAG	p.E46Q	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	46					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						AGCTCGTACTCAAACTGGTCT	0.557		NaN											0	0	0	0.00245	0	14	45				
DHRS13	147015	broad.mit.edu	37	17	27228278	27228278	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27228278G>A	uc002hde.3	-	4	539	c.412C>T	c.(412-414)CTG>TTG	p.L138L	DHRS13_uc002hdd.3_Silent_p.L88L|DHRS13_uc010wba.1_Silent_p.L57L	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	138						extracellular region	binding|oxidoreductase activity				0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCCGAAGCAGCAGGTTAAAC	0.602		NaN											0	0	0	0.000978	0	11	141				
TAOK1	57551	broad.mit.edu	37	17	27861196	27861196	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27861196G>A	uc002hdz.1	+	19	2616	c.2422G>A	c.(2422-2424)GAA>AAA	p.E808K	TAOK1_uc010wbe.1_Missense_Mutation_p.E660K|TAOK1_uc010wbf.1_Missense_Mutation_p.E808K	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	808	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GCTGCAGCAGGAACTGGAGCT	0.488		NaN											0	0	0	0.00361	0	58	43				
EFCAB5	374786	broad.mit.edu	37	17	28380455	28380455	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:28380455G>A	uc002het.2	+	10	1675	c.1483G>A	c.(1483-1485)GAA>AAA	p.E495K	EFCAB5_uc010wbi.1_Missense_Mutation_p.E238K|EFCAB5_uc010wbj.1_Missense_Mutation_p.E439K|EFCAB5_uc010wbk.1_Missense_Mutation_p.E152K|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E374K|EFCAB5_uc010csf.2_Missense_Mutation_p.E374K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	495							calcium ion binding			ovary(1)|skin(1)	2						TAAACTTAACGAACAGAGAAC	0.388		NaN											0	0	0	0.002836	0	33	216				
NF1	4763	broad.mit.edu	37	17	29552264	29552264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:29552264C>G	uc002hgg.2	+	17	2330	c.1997C>G	c.(1996-1998)TCT>TGT	p.S666C	NF1_uc002hgh.2_Missense_Mutation_p.S666C|NF1_uc010csn.1_Missense_Mutation_p.S526C|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	666					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAACTCCTCTATGGTCAGC	0.373		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.007413	0	16	111		Valid		
RHOT1	55288	broad.mit.edu	37	17	30519316	30519316	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:30519316C>G	uc002hgz.2	+	9	876	c.637C>G	c.(637-639)CAG>GAG	p.Q213E	RHOT1_uc002hgw.2_Missense_Mutation_p.Q213E|RHOT1_uc002hgy.2_Missense_Mutation_p.Q213E|RHOT1_uc002hha.2_Missense_Mutation_p.Q86E|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.Q86E|RHOT1_uc010wby.1_Missense_Mutation_p.Q213E|RHOT1_uc002hhb.2_Missense_Mutation_p.Q192E|RHOT1_uc002hgv.2_Missense_Mutation_p.Q213E	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 3	213	EF-hand 1.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAACTTCTTTCAGGTAATGGT	0.303		NaN											0	0	0	0.001368	0	13	59				
PEX12	5193	broad.mit.edu	37	17	33903113	33903113	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:33903113G>C	uc002hjp.2	-	3	1384	c.768C>G	c.(766-768)TTC>TTG	p.F256L		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	256	Helical; (Potential).				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGCAAGAAGAATACACCCA	0.468		NaN											0	0	0	0.007835	0	43	73				
AP2B1	163	broad.mit.edu	37	17	34036247	34036247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34036247C>T	uc002hjr.2	+	18	2606	c.2417C>T	c.(2416-2418)GCT>GTT	p.A806V	AP2B1_uc002hjq.2_Missense_Mutation_p.A820V|AP2B1_uc010wci.1_Missense_Mutation_p.A782V|AP2B1_uc002hjs.2_Missense_Mutation_p.A749V|AP2B1_uc002hjt.2_Missense_Mutation_p.A820V|AP2B1_uc010ctv.2_Missense_Mutation_p.A820V|AP2B1_uc010wcj.1_Missense_Mutation_p.A557V	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	806					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGCAGGTGGCTGTGAAAAAC	0.473		NaN											0	0	0	0.000978	0	12	67				
GAS2L2	246176	broad.mit.edu	37	17	34073061	34073061	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34073061G>A	uc002hjv.1	-	6	1483	c.1455C>T	c.(1453-1455)TTC>TTT	p.F485F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	485					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTCCCTGAACTGGAAGA	0.642		NaN											0	0	0	0.00361	0	49	87				
GAS2L2	246176	broad.mit.edu	37	17	34076186	34076186	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34076186G>C	uc002hjv.1	-	3	706	c.678C>G	c.(676-678)GTC>GTG	p.V226V		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	226	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGACACTTTGACCATGGAGA	0.592		NaN											0	0	0	0.000602	0	5	29				
ACACA	31	broad.mit.edu	37	17	35631157	35631157	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:35631157G>C	uc002hnm.2	-	9	1015	c.824C>G	c.(823-825)TCA>TGA	p.S275*	ACACA_uc002hnk.2_Nonsense_Mutation_p.S197*|ACACA_uc002hnl.2_Nonsense_Mutation_p.S217*|ACACA_uc002hnn.2_Nonsense_Mutation_p.S275*|ACACA_uc002hno.2_Nonsense_Mutation_p.S312*|ACACA_uc010cuz.2_Nonsense_Mutation_p.S275*|ACACA_uc002hnq.2_Nonsense_Mutation_p.S197*	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	275	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATACGTTTTGAAAAATCATT	0.413		NaN											0	0	0	0.008871	0	17	61				
SRCIN1	80725	broad.mit.edu	37	17	36715882	36715882	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:36715882C>T	uc002hqd.2	-	10	2189	c.1964G>A	c.(1963-1965)CGA>CAA	p.R655Q	SRCIN1_uc002hqf.1_Missense_Mutation_p.R527Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.R509Q|SRCIN1_uc002hqg.2_5'Flank	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	527	Potential.|Interaction with SNAP25 (By similarity).				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CTGCAGGCCTCGCAGGTGAAG	0.736		NaN											0	0	0	0.004482	0	8	25				
TOP2A	7153	broad.mit.edu	37	17	38551779	38551779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38551779C>T	uc002huq.2	-	29	3859	c.3733G>A	c.(3733-3735)GAA>AAA	p.E1245K		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	1245					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGGCTTCCTTCAGTATTTTCA	0.289		NaN											0	0	0	0.004482	0	7	45				
CCR7	1236	broad.mit.edu	37	17	38711414	38711414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38711414C>T	uc002huw.2	-	3	780	c.717G>A	c.(715-717)ATG>ATA	p.M239I		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	239	Helical; Name=5; (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				AACAGAAGCTCATGGCCAGCA	0.557		NaN											0	0	0	0.008291	0	11	47				
KRT10	3858	broad.mit.edu	37	17	38978738	38978738	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38978738G>A	uc002hvi.2	-	1	126	c.100C>T	c.(100-102)CTA>TTA	p.L34L	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	34	Head.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				GAAATTCTTAGGGATGACAct	0.423		NaN											0	0	0	0.00499	0	18	48				
KRT12	3859	broad.mit.edu	37	17	39022938	39022938	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39022938C>T	uc002hvk.2	-	1	525	c.501G>A	c.(499-501)GGG>GGA	p.G167G		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	167	Rod.|Linker 1.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CATCTGCAGTCCCAGTTCCTC	0.413		NaN											0	0	0	0.003214	0	46	146				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39240819C>G	uc010wfn.1	+	1	361	c.361C>G	c.(361-363)CTG>GTG	p.L121V		NM_033061	NP_149050			keratin associated protein 4-7												0						ctgctgctgcCTGCGTCCAGT	0.313		NaN											0	0	0	0.000248	0	3	3				
KRT37	8688	broad.mit.edu	37	17	39580734	39580734	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580734G>A	uc002hwp.1	-	1	89	c.42C>T	c.(40-42)TGC>TGT	p.C14C	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	14	Head.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				GAGCCATGGTGCAACCCAGAG	0.577		NaN											0	0	0	0.002445	0	30	101				
KRT37	8688	broad.mit.edu	37	17	39580750	39580750	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580750G>A	uc002hwp.1	-	1	73	c.26C>T	c.(25-27)TCA>TTA	p.S9L	uc002hwo.1_RNA	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	9	Head.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CAGAGGGCATGAGGAGGTGCT	0.577		NaN											0	0	0	0.002096	0	28	94				
ACLY	47	broad.mit.edu	37	17	40025364	40025364	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40025364G>C	uc002hyg.2	-	27	3229	c.3066C>G	c.(3064-3066)ATC>ATG	p.I1022M	ACLY_uc002hyh.2_Missense_Mutation_p.I1012M|ACLY_uc002hyi.2_Missense_Mutation_p.I1076M|ACLY_uc010wfx.1_Missense_Mutation_p.I1066M|ACLY_uc010wfy.1_Missense_Mutation_p.I751M	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	1022					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CTACATTCAGGATAAGATTTG	0.363		NaN											0	0	0	0.00245	0	13	294				
TTC25	83538	broad.mit.edu	37	17	40095357	40095357	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40095357G>C	uc002hyj.3	+	7	1079	c.990G>C	c.(988-990)CAG>CAC	p.Q330H	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	330	TPR 5.					cytoplasm	protein binding	p.Q330Q(1)		ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGAATGCCCAGATTGAGCTGG	0.537		NaN											0	0	0	0.004482	0	9	35				
PLEKHH3	79990	broad.mit.edu	37	17	40820225	40820225	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40820225C>A	uc002iau.2	-	13	2769	c.2302G>T	c.(2302-2304)GAC>TAC	p.D768Y	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.D129Y|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	768					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGGGAGGTGTCTGGCAGGTCT	0.647		NaN											1	0	1.10923e-09	0.00278	1.36521e-09	22	41				
MPP3	4356	broad.mit.edu	37	17	41879119	41879119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:41879119C>G	uc002iei.3	-	20	1874	c.1708G>C	c.(1708-1710)GAG>CAG	p.E570Q	MPP3_uc002ieh.2_Missense_Mutation_p.E595Q|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	570	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCAGCTTCTCTAAGACCACT	0.423		NaN											0	0	0	0.00361	0	46	99				
GFAP	2670	broad.mit.edu	37	17	42987985	42987985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:42987985C>G	uc002ihq.2	-	7	1229	c.1169G>C	c.(1168-1170)CGA>CCA	p.R390P	GFAP_uc002ihr.2_Missense_Mutation_p.R390P	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	390	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GTACTGACCTCGAATCTGCAG	0.622		NaN											0	0	0	0.000248	0	4	3				
C1QL1	10882	broad.mit.edu	37	17	43037561	43037561	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:43037561C>A	uc002ihv.2	-	2	1000	c.772G>T	c.(772-774)GAC>TAC	p.D258Y		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	258	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GGAGCTCAGTCGGAGTAGATG	0.657		NaN											1	0	9.39024e-22	0.002222	1.19346e-21	44	122				
MAPT	4137	broad.mit.edu	37	17	44061213	44061213	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44061213A>T	uc002ijr.3	+	6	1363	c.1043A>T	c.(1042-1044)GAG>GTG	p.E348V	MAPT_uc010dau.2_Missense_Mutation_p.E348V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	348					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				GACACAAAAGAGGCTGACCTT	0.637		NaN											0	0	0	0.005443	0	27	98				
STH	246744	broad.mit.edu	37	17	44076776	44076776	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44076776G>C	uc002ijy.2	+	1	161	c.131G>C	c.(130-132)AGA>ACA	p.R44T	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	44						cytoplasm|nucleus					0						CAGGTTGCCAGAGACAGAACC	0.388		NaN											0	0	0	0.001368	0	12	48				
KIAA1267	284058	broad.mit.edu	37	17	44144094	44144094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44144094G>A	uc002ikb.2	-	5	1742	c.1657C>T	c.(1657-1659)CAG>TAG	p.Q553*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.Q553*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	553						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				AAGACAGGCTGAAGACTATAC	0.338		NaN											0	0	0	0.001368	0	12	35				
PNPO	55163	broad.mit.edu	37	17	46023278	46023278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:46023278T>C	uc002imo.2	+	5	622	c.469T>C	c.(469-471)TAC>CAC	p.Y157H	PNPO_uc010wkz.1_Missense_Mutation_p.Y139H|PNPO_uc010wla.1_Missense_Mutation_p.Y62H|PNPO_uc010wlb.1_Intron	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	pyridoxine 5'-phosphate oxidase	157		Substrate.			pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity				0					Pyridoxal Phosphate(DB00114)	GGCTGAGTGCTACTTCCACTC	0.597		NaN											0	0	0	0.006122	0	19	42				
CACNA1G	8913	broad.mit.edu	37	17	48669297	48669297	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48669297G>T	uc002irk.1	+	13	3127	c.2755_splice	c.e13-1	p.I919_splice	CACNA1G_uc002iri.1_Splice_Site_p.I919_splice|CACNA1G_uc002irj.1_Splice_Site_p.I919_splice|CACNA1G_uc002irl.1_Splice_Site_p.I919_splice|CACNA1G_uc002irm.1_Splice_Site_p.I919_splice|CACNA1G_uc002irn.1_Splice_Site_p.I919_splice|CACNA1G_uc002iro.1_Splice_Site_p.I919_splice|CACNA1G_uc002irp.1_Splice_Site_p.I919_splice|CACNA1G_uc002irq.1_Splice_Site_p.I919_splice|CACNA1G_uc002irr.1_Splice_Site_p.I919_splice|CACNA1G_uc002irs.1_Splice_Site_p.I919_splice|CACNA1G_uc002irt.1_Splice_Site_p.I919_splice|CACNA1G_uc002irv.1_Splice_Site_p.I919_splice|CACNA1G_uc002irw.1_Splice_Site_p.I919_splice|CACNA1G_uc002iru.1_Splice_Site_p.I919_splice|CACNA1G_uc002irx.1_Splice_Site_p.I832_splice|CACNA1G_uc002iry.1_Splice_Site_p.I832_splice|CACNA1G_uc002irz.1_Splice_Site_p.I832_splice|CACNA1G_uc002isa.1_Splice_Site_p.I832_splice|CACNA1G_uc002isb.1_Splice_Site_p.I832_splice|CACNA1G_uc002isc.1_Splice_Site_p.I832_splice|CACNA1G_uc002isd.1_Splice_Site_p.I832_splice|CACNA1G_uc002ise.1_Splice_Site_p.I832_splice|CACNA1G_uc002isf.1_Splice_Site_p.I832_splice|CACNA1G_uc002isg.1_Splice_Site_p.I832_splice|CACNA1G_uc002ish.1_Splice_Site_p.I832_splice|CACNA1G_uc002isi.1_Splice_Site_p.I832_splice	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGCCCGCAGATCCTGACCC	0.582		NaN											1	0	6.31663e-08	0.003163	7.68238e-08	15	12				
CACNA1G	8913	broad.mit.edu	37	17	48678510	48678510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48678510G>A	uc002irk.1	+	19	4262	c.3890G>A	c.(3889-3891)CGC>CAC	p.R1297H	CACNA1G_uc002iri.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irj.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irl.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irm.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irn.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iro.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irp.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irq.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irr.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irs.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irt.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irv.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irw.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iru.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irx.1_Missense_Mutation_p.R1210H|CACNA1G_uc002iry.1_Missense_Mutation_p.R1210H|CACNA1G_uc002irz.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isa.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isb.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isc.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isd.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ise.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isf.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isg.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ish.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isi.1_Missense_Mutation_p.R1187H|CACNA1G_uc002isj.2_Missense_Mutation_p.R21H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1297	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCATGGAGCGCCCCAAAATT	0.592		NaN											0	0	0	0.007291	0	31	35				
C17orf67	339210	broad.mit.edu	37	17	54893199	54893199	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:54893199G>A	uc010dci.2	-	1	52	c.45C>T	c.(43-45)CTC>CTT	p.L15L	C17orf67_uc002iuq.2_RNA	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	hypothetical protein LOC339210 precursor	15						extracellular region					0	Breast(9;2.49e-06)					GCCTCTTGCTGAGTGAATCCT	0.517		NaN											0	0	0	0.006214	0	10	81				
CLTC	1213	broad.mit.edu	37	17	57743597	57743597	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57743597C>G	uc002ixq.1	+	11	2221	c.1778C>G	c.(1777-1779)CCT>CGT	p.P593R	CLTC_uc002ixp.2_Missense_Mutation_p.P593R|CLTC_uc002ixr.1_Missense_Mutation_p.P597R	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	593	Heavy chain arm.|Distal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCATGCGCCTCAAGTATGT	0.433		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	0.000978	0	10	100				
CLTC	1213	broad.mit.edu	37	17	57754433	57754433	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57754433C>G	uc002ixq.1	+	17	3123	c.2680C>G	c.(2680-2682)CTT>GTT	p.L894V	CLTC_uc002ixp.2_Missense_Mutation_p.L894V|CLTC_uc002ixr.1_Missense_Mutation_p.L898V	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	894	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGAGATTTCTTCGTGAAAA	0.458		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	0.002222	0	43	58				
MED13	9969	broad.mit.edu	37	17	60108955	60108955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60108955G>A	uc002izo.2	-	6	936	c.859C>T	c.(859-861)CAG>TAG	p.Q287*	MED13_uc002izp.2_5'Flank	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	287					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						ATGTCTGACTGAGGGACTAGA	0.468		NaN											0	0	0	0.000978	0	11	51				
MRC2	9902	broad.mit.edu	37	17	60743976	60743976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60743976C>G	uc002jad.2	+	4	1257	c.855C>G	c.(853-855)ATC>ATG	p.I285M	MRC2_uc002jac.2_Missense_Mutation_p.I285M	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	285	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGACCTACATCAACGGTGAGC	0.677		NaN											0	0	0	0.000248	0	4	18				
MRC2	9902	broad.mit.edu	37	17	60767311	60767311	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60767311G>A	uc002jad.2	+	25	4032	c.3630G>A	c.(3628-3630)CAG>CAA	p.Q1210Q	MRC2_uc002jae.2_Silent_p.Q281Q|MRC2_uc002jaf.2_Silent_p.Q76Q	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1210	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGCTGGCAGGACGGGGAGC	0.677		NaN											0	0	0	0.000602	0	5	38				
GNA13	10672	broad.mit.edu	37	17	63052692	63052692	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:63052692G>A	uc002jfc.2	-	1	229	c.20C>T	c.(19-21)TCG>TTG	p.S7L	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	7					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						CACGGACCGCGACGGCAGGAA	0.587		NaN											0	0	0	0.00361	0	94	114				
FAM20A	54757	broad.mit.edu	37	17	66550954	66550954	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66550954C>T	uc002jho.2	-	3	892	c.604G>A	c.(604-606)GAG>AAG	p.E202K	FAM20A_uc010wqp.1_Missense_Mutation_p.E64K|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	202						extracellular region					0	Breast(10;1.64e-13)					AAGGCTTTCTCATCTTGACTG	0.542		NaN											0	0	0	0.00874	0	39	39				
ABCA8	10351	broad.mit.edu	37	17	66899010	66899010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66899010G>C	uc002jhp.2	-	19	2667	c.2488C>G	c.(2488-2490)CTA>GTA	p.L830V	ABCA8_uc002jhq.2_Missense_Mutation_p.L870V|ABCA8_uc010wqq.1_Missense_Mutation_p.L870V|ABCA8_uc010wqr.1_Missense_Mutation_p.L809V|ABCA8_uc002jhr.2_Missense_Mutation_p.L870V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	830	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCAGCCATTAGAATTAATAGC	0.348		NaN											0	0	0	0.003954	0	20	106				
ABCA8	10351	broad.mit.edu	37	17	66925208	66925208	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66925208G>A	uc002jhp.2	-	8	1286	c.1107C>T	c.(1105-1107)TTC>TTT	p.F369F	ABCA8_uc002jhq.2_Silent_p.F369F|ABCA8_uc010wqq.1_Silent_p.F369F|ABCA8_uc010wqr.1_Silent_p.F308F|ABCA8_uc002jhr.2_Silent_p.F369F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	369	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTCCAAGCATGAAGGCAAAGG	0.458		NaN											0	0	0	0.00632	0	24	76				
ABCA9	10350	broad.mit.edu	37	17	66980209	66980209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66980209G>A	uc002jhu.2	-	35	4630	c.4487C>T	c.(4486-4488)TCA>TTA	p.S1496L	ABCA9_uc010dez.2_Missense_Mutation_p.S1458L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1496	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CAGCCTTCCTGACACCATGAT	0.597		NaN											0	0	0	0.004656	0	24	110				
KCTD2	23510	broad.mit.edu	37	17	73055613	73055613	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:73055613G>A	uc002jmp.2	+	4	616	c.549G>A	c.(547-549)GTG>GTA	p.V183V	KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	183						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					AGGGCCCCGTGAAGCACGTGT	0.527		NaN											0	0	0	0.003163	0	16	38				
SRP68	6730	broad.mit.edu	37	17	74056437	74056437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74056437C>T	uc002jqk.1	-	7	824	c.789G>A	c.(787-789)ATG>ATA	p.M263I	SRP68_uc010wsu.1_Missense_Mutation_p.M162I|SRP68_uc002jql.1_Missense_Mutation_p.M225I	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	263					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						ACCTCAATCTCATCTGCATGA	0.428		NaN											0	0	0	0.003954	0	19	96				
SRP68	6730	broad.mit.edu	37	17	74068563	74068563	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74068563C>T	uc002jqk.1	-	1	45	c.10G>A	c.(10-12)GAG>AAG	p.E4K	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.E4K|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	4					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						ACCTGCTTCTCAGCAGCCATC	0.463		NaN											0	0	0	0.00278	0	23	80				
UBE2O	63893	broad.mit.edu	37	17	74387651	74387651	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74387651G>A	uc002jrm.3	-	18	3317	c.3252C>T	c.(3250-3252)TTC>TTT	p.F1084F	UBE2O_uc002jrl.3_Silent_p.F688F	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1084							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GGTCACTGTCGAAGCCGGCTT	0.577		NaN											0	0	0	0.00361	0	45	121				
SFRS2	6427	broad.mit.edu	37	17	74732523	74732523	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74732523C>A	uc002jsv.2	-	2	556	c.386G>T	c.(385-387)CGA>CTA	p.R129L	SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R129L|SFRS2_uc010wtg.1_Missense_Mutation_p.R117L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	NM_003016	NP_003007	Q01130	SRSF2_HUMAN	splicing factor, arginine/serine-rich 2	129	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity				0						ACTCCGGGATCGGCTGCGGCG	0.552		NaN											1	0	1.49906e-05	0.00245	1.80187e-05	13	66				
DNAH17	8632	broad.mit.edu	37	17	76451810	76451810	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:76451810G>A	uc010dhp.1	-	8	1308	c.1086C>T	c.(1084-1086)TTC>TTT	p.F362F	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTAGGACACGAAGGCAGAGA	0.522		NaN											0	0	0	0.004482	0	9	21				
EIF4A3	9775	broad.mit.edu	37	17	78115614	78115614	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115614G>A	uc010wuc.1	-	4	349	c.276C>T	c.(274-276)TTC>TTT	p.F92F	EIF4A3_uc002jxs.2_Silent_p.F92F	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	92	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CTGAGATACTGAAGGTGGCTG	0.438		NaN											0	0	0	0.006122	0	17	42				
EIF4A3	9775	broad.mit.edu	37	17	78115643	78115643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115643G>A	uc010wuc.1	-	4	320	c.247C>T	c.(247-249)CAG>TAG	p.Q83*	EIF4A3_uc002jxs.2_Nonsense_Mutation_p.Q83*	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	83	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GTGCCGGACTGAGACCTATTC	0.478		NaN											0	0	0	0.001368	0	12	42				
RNF213	57674	broad.mit.edu	37	17	78359383	78359383	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78359383C>G	uc002jyh.1	+	36	8943	c.8720C>G	c.(8719-8721)TCC>TGC	p.S2907C	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1200										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTTTCTGTCCACATGGAAC	0.498		NaN											0	0	0	0.001368	0	10	44				
SLC38A10	124565	broad.mit.edu	37	17	79263557	79263557	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:79263557G>A	uc002jzz.1	-	2	526	c.151C>T	c.(151-153)CAC>TAC	p.H51Y	SLC38A10_uc002kab.2_Missense_Mutation_p.H51Y	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	51	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACGACTGGTGCGTCATCCAT	0.632		NaN											0	0	0	0.004007	0	15	35				
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:5398076G>A	uc002kmt.1	-	17	2502	c.2416C>T	c.(2416-2418)CGA>TGA	p.R806*	EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTTGGTTTTCGCGCAGACTCT	0.453		NaN											0	0	0	0.00361	0	45	306				
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:9255144G>A	uc002knv.2	+	9	2136	c.1879G>A	c.(1879-1881)GAA>AAA	p.E627K	ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	627						nucleus				ovary(2)|central_nervous_system(1)	3						AATAAAGGATGAAGATCATAG	0.184		NaN											0	0	0	0.00278	0	25	82				
PSMG2	56984	broad.mit.edu	37	18	12706694	12706694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:12706694C>G	uc002krk.2	+	2	246	c.203C>G	c.(202-204)TCA>TGA	p.S68*	PSMG2_uc002krg.2_Nonsense_Mutation_p.S37*|PSMG2_uc002krj.1_Nonsense_Mutation_p.S68*	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	68					proteasome assembly	nucleus	protein binding				0						GAAGGAAATTCAACAGAACTT	0.323		NaN											0	0	0	0.002299	0	22	56				
GATA6	2627	broad.mit.edu	37	18	19780746	19780746	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:19780746C>A	uc002ktt.1	+	7	2013	c.1748C>A	c.(1747-1749)TCC>TAC	p.S583Y	GATA6_uc002ktu.1_Missense_Mutation_p.S583Y	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	583					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTCACGTCCTCCGTGCGACCG	0.672		NaN											1	0	2.79863e-10	0.004656	3.46223e-10	27	253				
RBBP8	5932	broad.mit.edu	37	18	20564853	20564853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:20564853G>A	uc002ktw.2	+	8	940	c.609G>A	c.(607-609)ATG>ATA	p.M203I	RBBP8_uc002kty.2_Missense_Mutation_p.M203I|RBBP8_uc002ktz.2_Missense_Mutation_p.M203I|RBBP8_uc002kua.2_Missense_Mutation_p.M203I|RBBP8_uc002ktx.1_Missense_Mutation_p.M203I	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	203					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCTTAGAAATGAGAAAAGTTT	0.274		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.006214	0	9	61				
LAMA3	3909	broad.mit.edu	37	18	21494446	21494446	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:21494446G>C	uc002kuq.2	+	57	7488	c.7402G>C	c.(7402-7404)GAG>CAG	p.E2468Q	LAMA3_uc002kur.2_Missense_Mutation_p.E2412Q|LAMA3_uc002kus.3_Missense_Mutation_p.E859Q|LAMA3_uc002kut.3_Missense_Mutation_p.E803Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2468	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGGACCGTGAGGCTGAACT	0.537		NaN											0	0	0	0.001168	0	5	72				
DSC2	1824	broad.mit.edu	37	18	28673588	28673588	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:28673588C>G	uc002kwl.3	-	2	542	c.88G>C	c.(88-90)GAT>CAT	p.D30H	DSC2_uc002kwk.3_Missense_Mutation_p.D30H|DSC2_uc010xbo.1_Missense_Mutation_p.D30H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	30					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGCAGGCATCACTGGCAAAT	0.259		NaN											0	0	0	0.00361	0	54	135				
DSG2	1829	broad.mit.edu	37	18	29126602	29126602	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29126602C>G	uc002kwu.3	+	15	3441	c.3253C>G	c.(3253-3255)CTG>GTG	p.L1085V	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	1085	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGGCCCTCTGCCAGATTT	0.478		NaN											0	0	0	0.003954	0	24	85				
MCART2	147407	broad.mit.edu	37	18	29340499	29340499	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29340499G>T	uc002kxa.2	-	1	345	c.126C>A	c.(124-126)TTC>TTA	p.F42L		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	42	Solcar 1.|Helical; Name=1; (Potential).				transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CGACGTTGTTGAAGGCTGCAC	0.438		NaN											1	0	6.03219e-31	0.00361	7.7075e-31	49	126				
FAM59A	64762	broad.mit.edu	37	18	29848662	29848662	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29848662C>A	uc002kxl.2	-	6	1859	c.1803G>T	c.(1801-1803)GTG>GTT	p.V601V	FAM59A_uc002kxk.1_Silent_p.V600V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	601										ovary(1)|skin(1)	2						AATCAGTTTTCACTCGGTTAC	0.458		NaN											1	0	1.05317e-09	0.00245	1.29843e-09	15	46				
CELF4	56853	broad.mit.edu	37	18	34839145	34839145	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:34839145G>A	uc002lae.2	-	11	1728	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F	CELF4_uc010dnd.1_Silent_p.F442F|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Silent_p.F438F|CELF4_uc002lai.2_Silent_p.F428F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	444	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						TGACATTACCGAAAGGGAGGA	0.488		NaN											0	0	0	0.005443	0	24	61				
SLC14A2	8170	broad.mit.edu	37	18	43221187	43221187	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43221187C>A	uc010dnj.2	+	9	1326	c.1005C>A	c.(1003-1005)GCC>GCA	p.A335A	SLC14A2_uc002lbb.2_Silent_p.A335A|SLC14A2_uc002lbe.2_Silent_p.A335A	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	335						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TGTCAGTGGCCACACCCTTCG	0.577		NaN											1	0	6.81908e-15	0.00245	8.55355e-15	14	136				
TCEB3B	51224	broad.mit.edu	37	18	44559892	44559892	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44559892C>G	uc002lcr.1	-	1	2097	c.1744G>C	c.(1744-1746)GAC>CAC	p.D582H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	582	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CGTAATTCGTCTGTCTCTCTA	0.517		NaN											0	0	0	0.004482	0	8	77				
IER3IP1	51124	broad.mit.edu	37	18	44702592	44702592	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44702592G>T	uc002lcu.2	-	1	154	c.57C>A	c.(55-57)ATC>ATA	p.I19I		NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein	19	Helical; (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane					0						GCAGCACTGCGATGGCGTTGA	0.468		NaN											1	0	3.59834e-05	0.001168	4.30724e-05	6	16				
SKA1	220134	broad.mit.edu	37	18	47918545	47918545	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:47918545G>A	uc002let.2	+	7	880	c.696G>A	c.(694-696)CTG>CTA	p.L232L	SKA1_uc002leu.2_Silent_p.L232L|SKA1_uc010xdl.1_Silent_p.L186L	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	232					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						ACGTGTTACTGAATATTTTAC	0.393		NaN											0	0	0	0.003271	0	33	82				
ATP8B1	5205	broad.mit.edu	37	18	55322535	55322535	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:55322535C>T	uc002lgw.2	-	22	2822	c.2822G>A	c.(2821-2823)CGA>CAA	p.R941Q	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	941	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GTAAGACCATCGGCCATGCAC	0.433		NaN							Byler_disease				0	0	0	0.007291	0	30	96				
ZNF532	55205	broad.mit.edu	37	18	56585882	56585882	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:56585882G>A	uc002lho.2	+	4	910	c.363G>A	c.(361-363)CTG>CTA	p.L121L	ZNF532_uc002lhp.2_Silent_p.L119L|ZNF532_uc010xeg.1_Silent_p.L119L|ZNF532_uc002lhr.2_Silent_p.L119L|ZNF532_uc002lhs.2_Silent_p.L119L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGGTGACACTGAAAGACTCGA	0.493		NaN											0	0	0	0.002299	0	21	97				
SERPINB8	5271	broad.mit.edu	37	18	61647057	61647057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:61647057G>A	uc002ljv.2	+	3	360	c.191G>A	c.(190-192)GGA>GAA	p.G64E	SERPINB8_uc002ljs.1_Missense_Mutation_p.G64E|SERPINB8_uc002ljt.2_Missense_Mutation_p.G64E|SERPINB8_uc002lju.2_Missense_Mutation_p.G64E|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	64					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TACAAAGACGGAGATATTCAC	0.433		NaN									OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003755	0	33	108				
PARD6G	84552	broad.mit.edu	37	18	77917935	77917935	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:77917935C>T	uc002lny.2	-	3	1016	c.850G>A	c.(850-852)GTC>ATC	p.V284I	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	284					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTGCAGGACGCGCGGGGCG	0.731		NaN											0	0	0	0.000602	0	5	18				
ABCA7	10347	broad.mit.edu	37	19	1043124	1043124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1043124G>A	uc002lqw.3	+	8	895	c.664G>A	c.(664-666)GAG>AAG	p.E222K	ABCA7_uc010dsb.1_Missense_Mutation_p.E84K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	222	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTGTCAGAGGCCCTCTG	0.657		NaN											0	0	0	0.003163	0	15	68				
HMHA1	23526	broad.mit.edu	37	19	1068607	1068607	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1068607G>A	uc002lqz.1	+	2	516	c.285G>A	c.(283-285)CTG>CTA	p.L95L	HMHA1_uc010xgd.1_Silent_p.L111L|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	95					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCCACTGACAGCCGCCA	0.741		NaN											0	0	0	0.00308	0	8	30				
ZNF555	148254	broad.mit.edu	37	19	2853858	2853858	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2853858C>T	uc002lwo.2	+	4	1884	c.1795C>T	c.(1795-1797)CCT>TCT	p.P599S	ZNF555_uc002lwn.3_Missense_Mutation_p.P598S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTAGGACATCCTCCTGCAAA	0.388		NaN											0	0	0	0.004007	0	15	87				
ZNF556	80032	broad.mit.edu	37	19	2873567	2873567	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2873567G>C	uc002lwp.1	+	2	164	c.77G>C	c.(76-78)AGA>ACA	p.R26T	ZNF556_uc002lwq.2_Missense_Mutation_p.R26T	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCAGAGAAAACTCTAC	0.438		NaN											0	0	0	0.008361	0	30	93				
CHAF1A	10036	broad.mit.edu	37	19	4408975	4408975	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4408975C>T	uc002mal.2	+	3	279	c.179C>T	c.(178-180)TCT>TTT	p.S60F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	60	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTACTTCTGTGCAAAGT	0.473		NaN						Chromatin_Structure					0	0	0	0.00361	0	69	145				
UBXN6	80700	broad.mit.edu	37	19	4453979	4453979	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4453979C>T	uc002man.1	-	2	291	c.195G>A	c.(193-195)CAG>CAA	p.Q65Q	UBXN6_uc010dty.1_Silent_p.Q12Q|UBXN6_uc002mam.1_Silent_p.Q12Q	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	65						microtubule organizing center|nucleus	protein binding				0						GGGACTGCTTCTGCTCCAGCC	0.672		NaN											0	0	0	0.00361	0	48	127				
LONP1	9361	broad.mit.edu	37	19	5694465	5694465	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:5694465G>A	uc002mcx.2	-	15	2286	c.2253C>T	c.(2251-2253)TTC>TTT	p.F751F	LONP1_uc002mcy.2_Silent_p.F687F|LONP1_uc010duh.2_Silent_p.F492F|LONP1_uc010dui.2_Silent_p.F735F|LONP1_uc002mcz.2_Silent_p.F555F	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	751					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GCTCCACGGTGAACACGGGCT	0.642		NaN											0	0	0	0.001168	0	5	63				
EMR1	2015	broad.mit.edu	37	19	6928195	6928195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:6928195C>T	uc002mfw.2	+	17	2300	c.2262C>T	c.(2260-2262)TTC>TTT	p.F754F	EMR1_uc010dvc.2_Silent_p.F689F|EMR1_uc010dvb.2_Silent_p.F702F|EMR1_uc010xji.1_Silent_p.F613F|EMR1_uc010xjj.1_Silent_p.F577F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	754	Helical; Name=5; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCTGGAGTTTCTTGGGGCCAG	0.498		NaN											0	0	0	0.00361	0	45	116				
C19orf45	374877	broad.mit.edu	37	19	7569023	7569023	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7569023C>T	uc002mgm.2	+	3	735	c.594C>T	c.(592-594)CTC>CTT	p.L198L	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	198											0						CCAACACCCTCAAGTGGGACT	0.547		NaN											0	0	0	0.00308	0	7	34				
MAP2K7	5609	broad.mit.edu	37	19	7968919	7968919	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7968919C>G	uc002mit.2	+	1	155	c.90C>G	c.(88-90)CTC>CTG	p.L30L	MAP2K7_uc002mis.1_Silent_p.L30L|MAP2K7_uc002miv.2_Silent_p.L30L|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.L30L|MAP2K7_uc010dvv.2_5'UTR	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	30	Potential.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGATCGACCTCAACCTGGATA	0.398		NaN											0	0	0	0.004482	0	8	30				
ELAVL1	1994	broad.mit.edu	37	19	8032455	8032455	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:8032455C>G	uc002mjb.2	-	5	817	c.650G>C	c.(649-651)AGA>ACA	p.R217T		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	217					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						CCACCTGAATCTCTGCGCCTG	0.622		NaN											0	0	0	0.004482	0	8	24				
MUC16	94025	broad.mit.edu	37	19	9084097	9084097	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9084097G>A	uc002mkp.2	-	1	7922	c.7718C>T	c.(7717-7719)TCT>TTT	p.S2573F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2573	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTGGTGAAGAATGAATGGC	0.502		NaN											0	0	0	0.00632	0	28	102				
MUC16	94025	broad.mit.edu	37	19	9086405	9086405	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9086405C>T	uc002mkp.2	-	1	5614	c.5410G>A	c.(5410-5412)GAA>AAA	p.E1804K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1804	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTGTATTTTCAGTGCTTCCC	0.463		NaN											0	0	0	0.004656	0	27	69				
MUC16	94025	broad.mit.edu	37	19	9090786	9090786	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9090786G>C	uc002mkp.2	-	1	1233	c.1029C>G	c.(1027-1029)GTC>GTG	p.V343V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	343	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTGCTTCTGACCCTTTCGG	0.507		NaN											0	0	0	0.003163	0	16	51				
DNMT1	1786	broad.mit.edu	37	19	10250949	10250949	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10250949G>A	uc002mng.2	-	32	3711	c.3531C>T	c.(3529-3531)TTC>TTT	p.F1177F	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.F101F|DNMT1_uc010xlc.1_Silent_p.F1193F|DNMT1_uc002mnh.2_Silent_p.F1072F|DNMT1_uc010xld.1_Silent_p.F1177F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1177	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGTTCAGCCGGAACGCCTGGG	0.612		NaN											0	0	0	0.00499	0	17	55				
S1PR2	9294	broad.mit.edu	37	19	10335096	10335096	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10335096G>A	uc002mnl.2	-	2	597	c.486C>T	c.(484-486)CTC>CTT	p.L162L		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	162	Helical; Name=4; (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						GCAGGCCACCGAGGACCAGCG	0.627		NaN											0	0	0	0.002299	0	22	54				
TYK2	7297	broad.mit.edu	37	19	10461569	10461569	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10461569G>A	uc002moc.3	-	25	3883	c.3505C>T	c.(3505-3507)CTG>TTG	p.L1169L	TYK2_uc010dxe.2_Silent_p.L984L	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1169	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACTGTCTTCAGAATGGGTATG	0.557		NaN											0	0	0	0.00278	0	23	80				
SMARCA4	6597	broad.mit.edu	37	19	11121153	11121153	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121153G>A	uc002mqf.3	+	15	2504	c.2220G>A	c.(2218-2220)GAG>GAA	p.E740E	SMARCA4_uc010dxp.2_Silent_p.E740E|SMARCA4_uc010dxo.2_Silent_p.E740E|SMARCA4_uc002mqg.1_Silent_p.E740E|SMARCA4_uc010dxq.2_Silent_p.E740E|SMARCA4_uc010dxr.2_Silent_p.E740E|SMARCA4_uc002mqj.3_Silent_p.E740E|SMARCA4_uc010dxs.2_Silent_p.E740E|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	740					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGTCACTGAGAGAGTGGACA	0.587		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.002445	0	32	76				
SMARCA4	6597	broad.mit.edu	37	19	11121155	11121155	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121155G>A	uc002mqf.3	+	15	2506	c.2222G>A	c.(2221-2223)AGA>AAA	p.R741K	SMARCA4_uc010dxp.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxo.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqg.1_Missense_Mutation_p.R741K|SMARCA4_uc010dxq.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxr.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqj.3_Missense_Mutation_p.R741K|SMARCA4_uc010dxs.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	741					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTCACTGAGAGAGTGGACAAG	0.582		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.002836	0	33	77		Valid		
KANK2	25959	broad.mit.edu	37	19	11277264	11277264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11277264C>G	uc010dxv.2	-	15	3084	c.2526G>C	c.(2524-2526)GAG>GAC	p.E842D	KANK2_uc002mqm.2_Missense_Mutation_p.E850D|KANK2_uc002mqo.3_Missense_Mutation_p.E842D	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	842											0						ATGTAGGGCTCTCGTCATCTG	0.587		NaN											0	0	0	0.001368	0	11	71				
ZNF441	126068	broad.mit.edu	37	19	11892012	11892012	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892012C>G	uc010dyj.2	+	4	1567	c.1373C>G	c.(1372-1374)TCT>TGT	p.S458C	ZNF441_uc002msn.3_Missense_Mutation_p.S414C	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	458	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCCTTCAGGTCTTCCAATTAC	0.398		NaN											0	0	0	0.005443	0	28	43				
ZNF441	126068	broad.mit.edu	37	19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892189C>T	uc010dyj.2	+	4	1744	c.1550C>T	c.(1549-1551)TCA>TTA	p.S517L	ZNF441_uc002msn.3_Missense_Mutation_p.S473L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCCAGTTCATTTCGAAGA	0.398		NaN											0	0	0	0.001786	0	32	61				
ZNF433	163059	broad.mit.edu	37	19	12125889	12125889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12125889G>C	uc002msy.1	-	4	1964	c.1793C>G	c.(1792-1794)TCT>TGT	p.S598C	uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.S563C	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	598	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACATCCAAAAGACTTCCCACA	0.468		NaN											0	0	0	0.001786	0	30	125				
ZNF433	163059	broad.mit.edu	37	19	12126042	12126042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12126042G>T	uc002msy.1	-	4	1811	c.1640C>A	c.(1639-1641)TCA>TAA	p.S547*	uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.S512*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	547	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGAAGCTGTGAGGCAGATCT	0.453		NaN											1	0	2.4375e-19	0.007291	3.08979e-19	30	112				
ZNF791	163049	broad.mit.edu	37	19	12739289	12739289	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12739289C>G	uc002mua.2	+	4	1108	c.946C>G	c.(946-948)CAA>GAA	p.Q316E	ZNF791_uc010xml.1_Missense_Mutation_p.Q284E|ZNF791_uc010dyu.1_Missense_Mutation_p.Q207E|ZNF791_uc010xmm.1_Missense_Mutation_p.Q207E	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	316	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CACCTCCATTCAAATTCATGA	0.393		NaN											0	0	0	0.001855	0	11	54				
JUNB	3726	broad.mit.edu	37	19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12903392C>G	uc002mvc.2	+	1	1083	c.807C>G	c.(805-807)ATC>ATG	p.I269M	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	269						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						AAGAGCGCATCAAAGTGGAGC	0.682		NaN											0	0	0	0.004672	0	2	8				
GCDH	2639	broad.mit.edu	37	19	13007200	13007200	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13007200G>C	uc002mvq.2	+	8	894	c.817G>C	c.(817-819)GAG>CAG	p.E273Q	GCDH_uc010xms.1_Missense_Mutation_p.E240Q|GCDH_uc002mvp.2_Missense_Mutation_p.E273Q|GCDH_uc010xmt.1_Missense_Mutation_p.E107Q|GCDH_uc010xmu.1_Missense_Mutation_p.E229Q	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	273					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GGAGGTGCCAGAGGAGAATGT	0.632		NaN											0	0	0	0.001984	0	5	35				
TRMT1	55621	broad.mit.edu	37	19	13218411	13218411	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13218411G>A	uc002mwj.2	-	13	1810	c.1560C>T	c.(1558-1560)TTC>TTT	p.F520F	TRMT1_uc010xmy.1_Silent_p.F124F|TRMT1_uc002mwk.2_Silent_p.F491F|TRMT1_uc002mwl.3_Silent_p.F520F|TRMT1_uc010xmz.1_Silent_p.F306F	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	520							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGAGAATGCGGAACGCTGGGC	0.582		NaN											0	0	0	0.006214	0	8	11				
BRD4	23476	broad.mit.edu	37	19	15349940	15349940	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15349940C>T	uc002nar.2	-	18	3934	c.3712G>A	c.(3712-3714)GAG>AAG	p.E1238K		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1238					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGCCTTCTCACGCTCCTCT	0.662		NaN	T	NUT|C15orf55	lethal midline carcinoma of young people								0	0	0	0.001368	0	12	11				
CYP4F3	4051	broad.mit.edu	37	19	15760750	15760750	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15760750C>G	uc002nbj.2	+	7	725	c.675C>G	c.(673-675)ATC>ATG	p.I225M	CYP4F3_uc010xok.1_Missense_Mutation_p.I225M|CYP4F3_uc010xol.1_Missense_Mutation_p.I225M|CYP4F3_uc010xom.1_Missense_Mutation_p.I76M|CYP4F3_uc002nbk.2_Missense_Mutation_p.I225M|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	225					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						TTGCCGCCATCTTGGAGCTCA	0.522		NaN											0	0	0	0.00361	0	63	221				
GTPBP3	84705	broad.mit.edu	37	19	17452360	17452360	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17452360G>A	uc010eas.2	+	9	1392	c.1327G>A	c.(1327-1329)GAT>AAT	p.D443N	GTPBP3_uc010xpo.1_Missense_Mutation_p.D465N|GTPBP3_uc002ngh.3_Missense_Mutation_p.D422N|GTPBP3_uc002ngg.3_Missense_Mutation_p.D475N|GTPBP3_uc002ngi.3_Missense_Mutation_p.D109N	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	443					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GGGTTGCCTGGATGCCCTCGG	0.642		NaN											0	0	0	0.008291	0	11	72				
PGLS	25796	broad.mit.edu	37	19	17631815	17631815	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17631815G>A	uc002ngw.2	+	5	752	c.702G>A	c.(700-702)GGG>GGA	p.G234G	FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	234						cytosol	6-phosphogluconolactonase activity				0						CCCACACCGGGAAACTGTGCT	0.652		NaN											0	0	0	0.000602	0	5	9				
MAP1S	55201	broad.mit.edu	37	19	17838864	17838864	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17838864G>A	uc002nhe.1	+	5	2680	c.2671G>A	c.(2671-2673)GGT>AGT	p.G891S	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.G139S|MAP1S_uc010xpv.1_Missense_Mutation_p.G865S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	891	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GGGGCTTGCTGGTGGGGACCG	0.682		NaN											0	0	0	0.008291	0	10	26				
UBA52	7311	broad.mit.edu	37	19	18684102	18684102	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:18684102G>A	uc002njr.2	+	2	107	c.-7_splice	c.e2-1		UBA52_uc002njs.2_Splice_Site|UBA52_uc002njt.2_Splice_Site	NM_001033930	NP_001029102	P62987	RL40_HUMAN	ubiquitin and ribosomal protein L40 precursor						activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0						TCCTCCTGCAGACGCAAACAT	0.517		NaN											0	0	0	0.001984	0	6	28				
NCAN	1463	broad.mit.edu	37	19	19334931	19334931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:19334931C>G	uc002nlz.2	+	4	676	c.577C>G	c.(577-579)CGG>GGG	p.R193G	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	193	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGCAGCCCCTCGGCATCTACA	0.602		NaN											0	0	0	0.008291	0	11	41				
ZNF99	7652	broad.mit.edu	37	19	22940381	22940381	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940381C>T	uc010xrh.1	-	5	2057	c.2057G>A	c.(2056-2058)AGA>AAA	p.R686K		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTTCTAAGGGCTGA	0.348		NaN											0	0	0	0.008291	0	11	77				
ZNF99	7652	broad.mit.edu	37	19	22940551	22940551	+	Silent	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940551A>C	uc010xrh.1	-	5	1887	c.1887T>G	c.(1885-1887)CTT>CTG	p.L629L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATGTTTTCTAAGAGTTGAGG	0.363		NaN											0	0	0	0.003163	0	15	64				
ZNF91	7644	broad.mit.edu	37	19	23578152	23578152	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:23578152G>A	uc002nre.2	-	1	118	c.5C>T	c.(4-6)CCA>CTA	p.P2L	ZNF91_uc010xrj.1_Missense_Mutation_p.P2L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGGGGTTCCTGGCATCTTAGC	0.612		NaN											0	0	0	0.004656	0	21	78				
ZNF507	22847	broad.mit.edu	37	19	32873422	32873422	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32873422C>A	uc002nte.2	+	6	2682	c.2410C>A	c.(2410-2412)CAT>AAT	p.H804N	ZNF507_uc002ntd.2_Missense_Mutation_p.H804N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	804	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					TTTGAAGTCTCATATGTGGAA	0.443		NaN											1	0	6.17869e-53	0.00361	7.94403e-53	108	338				
DPY19L3	147991	broad.mit.edu	37	19	32973094	32973094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32973094G>C	uc002ntg.2	+	19	2275	c.2099G>C	c.(2098-2100)AGA>ACA	p.R700T	DPY19L3_uc002nth.1_Missense_Mutation_p.R700T|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.R122T	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	700						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					TACTTCACCAGAGTGTTCCAG	0.478		NaN											0	0	0	0.00361	0	114	199				
RHPN2	85415	broad.mit.edu	37	19	33490610	33490610	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:33490610C>T	uc002nuf.2	-	10	1173	c.1107G>A	c.(1105-1107)GTG>GTA	p.V369V	RHPN2_uc010xro.1_Silent_p.V218V|RHPN2_uc002nue.2_Silent_p.V99V	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	369	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TGCCTGGCTTCACTGCAAAGA	0.542		NaN											0	0	0	0.002096	0	27	64				
KIAA0355	9710	broad.mit.edu	37	19	34791501	34791501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:34791501G>A	uc002nvd.3	+	2	982	c.123G>A	c.(121-123)CTG>CTA	p.L41L	KIAA0355_uc010edk.1_Silent_p.L31L	NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	41										ovary(1)	1	Esophageal squamous(110;0.162)					GCCGAGCACTGAGTGCTCCCC	0.637		NaN											0	0	0	0.002299	0	24	65				
SCN1B	6324	broad.mit.edu	37	19	35523533	35523533	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35523533G>C	uc002nxp.2	+	2	333	c.142G>C	c.(142-144)GAG>CAG	p.E48Q	SCN1B_uc002nxo.1_Missense_Mutation_p.E48Q|SCN1B_uc010xsg.1_Missense_Mutation_p.E48Q	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	48	Extracellular (Potential).|Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGCCGCAGCGAGACCAACGC	0.627		NaN											0	0	0	0.00361	0	43	190				
LSR	51599	broad.mit.edu	37	19	35758329	35758329	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35758329G>A	uc002nyl.2	+	9	1829	c.1606G>A	c.(1606-1608)GAC>AAC	p.D536N	LSR_uc002nym.2_Missense_Mutation_p.D517N|LSR_uc002nyn.2_Missense_Mutation_p.D468N|LSR_uc002nyo.2_Missense_Mutation_p.D516N|LSR_uc010xsr.1_Missense_Mutation_p.D428N|LSR_uc002nyp.2_Missense_Mutation_p.D478N|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	536	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGACCTCTATGACCAAGACGA	0.687		NaN											0	0	0	0.004482	0	9	27				
ATP4A	495	broad.mit.edu	37	19	36054367	36054367	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36054367C>T	uc002oal.1	-	2	104	c.75G>A	c.(73-75)AAG>AAA	p.K25K		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	25	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGCTCATCTTGGCAGCCA	0.577		NaN											0	0	0	0.00361	0	75	280				
MLL4	9757	broad.mit.edu	37	19	36211234	36211234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36211234C>T	uc010eei.2	+	3	985	c.985C>T	c.(985-987)CAA>TAA	p.Q329*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	329					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGTCAAGGTCAAGGTCAACA	0.512		NaN											0	0	0	0.000602	0	5	26		Valid		
TMEM149	79713	broad.mit.edu	37	19	36230880	36230880	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230880T>C	uc002obc.2	-	4	553	c.452A>G	c.(451-453)GAG>GGG	p.E151G	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.E151G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.E231G	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	151	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGACAGGCTCAGGGGTCCT	0.632		NaN											0	0	0	0.006999	0	40	51				
TMEM149	79713	broad.mit.edu	37	19	36230990	36230990	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230990C>T	uc002obc.2	-	4	444	c.343_splice	c.e4-1	p.R115_splice	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Splice_Site_p.R115_splice|TMEM149_uc010xsy.1_Intron|TMEM149_uc010eej.2_Splice_Site_p.R195_splice	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor							integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCGGCCTCTGGGGATAAG	0.607		NaN											0	0	0	0.000602	0	4	46				
SPRED3	399473	broad.mit.edu	37	19	38882867	38882867	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:38882867C>T	uc002oim.2	+	3	366	c.362C>T	c.(361-363)TCC>TTC	p.S121F	SPRED3_uc002oil.1_Missense_Mutation_p.S121F	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCAccccctcctcctcctcc	0.537		NaN											0	0	0	0.00245	0	15	20				
RYR1	6261	broad.mit.edu	37	19	39017663	39017663	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39017663C>G	uc002oit.2	+	72	10787	c.10657C>G	c.(10657-10659)CTG>GTG	p.L3553V	RYR1_uc002oiu.2_Missense_Mutation_p.L3548V|RYR1_uc002oiv.1_Missense_Mutation_p.L468V|RYR1_uc010xuf.1_Missense_Mutation_p.L473V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3553					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGGGAATTTCTGCACAACAA	0.507		NaN											0	0	0	0.000978	0	11	88				
RYR1	6261	broad.mit.edu	37	19	39034011	39034011	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39034011A>C	uc002oit.2	+	85	11844	c.11714A>C	c.(11713-11715)CAG>CCG	p.Q3905P	RYR1_uc002oiu.2_Missense_Mutation_p.Q3900P|RYR1_uc002oiv.1_Missense_Mutation_p.Q814P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3905					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTACGGACACAGACAGGGAAC	0.488		NaN											0	0	0	0.007291	0	28	153				
LRFN1	57622	broad.mit.edu	37	19	39804678	39804678	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804678G>C	uc002okw.2	-	1	1299	c.1299C>G	c.(1297-1299)CTC>CTG	p.L433L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	433	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGTTCGAGGTGAGCTCGGCTG	0.652		NaN											0	0	0	0.00308	0	6	44				
LRFN1	57622	broad.mit.edu	37	19	39804803	39804803	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804803G>C	uc002okw.2	-	1	1174	c.1174C>G	c.(1174-1176)CTG>GTG	p.L392V		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	392	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCATCAGAGGCAGAGGT	0.672		NaN											0	0	0	0.001984	0	7	41				
MED29	55588	broad.mit.edu	37	19	39882056	39882056	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39882056G>C	uc002olf.2	+	1	94	c.57G>C	c.(55-57)GCG>GCC	p.A19A	PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Silent_p.A19A|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGTCTACGCGAGGAAGATGG	0.617		NaN											0	0	0	0.004482	0	9	33				
PRX	57716	broad.mit.edu	37	19	40902007	40902007	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:40902007G>C	uc002onr.2	-	7	2521	c.2252C>G	c.(2251-2253)TCA>TGA	p.S751*	PRX_uc002onq.2_Nonsense_Mutation_p.S612*|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	751	51.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGAATCTCTGACACTTTCGG	0.592		NaN											0	0	0	0.00361	0	60	236				
SPTBN4	57731	broad.mit.edu	37	19	41029487	41029487	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41029487G>C	uc002ony.2	+	17	3884	c.3798G>C	c.(3796-3798)CTG>CTC	p.L1266L	SPTBN4_uc002onx.2_Silent_p.L1266L|SPTBN4_uc002onz.2_Silent_p.L1266L|SPTBN4_uc010egx.2_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1266	Spectrin 10.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGCCTGCTGAGGCAGGGCA	0.632		NaN											0	0	0	0.00333	0	23	74				
CYP2A7	1549	broad.mit.edu	37	19	41384835	41384835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41384835C>G	uc002opm.2	-	5	1203	c.661G>C	c.(661-663)GAG>CAG	p.E221Q	CYP2A7_uc002opo.2_Missense_Mutation_p.E221Q|CYP2A7_uc002opn.2_Missense_Mutation_p.E170Q	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	221						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGAACATCTCATAGAGCTGG	0.527		NaN											0	0	0	0.006122	0	15	46				
CIC	23152	broad.mit.edu	37	19	42791575	42791575	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:42791575G>C	uc002otf.1	+	4	596	c.556G>C	c.(556-558)GAG>CAG	p.E186Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CTCATCTTCTGAGAAGGATGG	0.597		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.00632	0	26	154				
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45262794C>T	uc010xxe.1	+	9	1357	c.1287C>T	c.(1285-1287)CCC>CCT	p.P429P		NM_005178	NP_005169	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			ovary(1)|lung(1)	2	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682		NaN	T	IGH@	CLL 								0	0	0	0.001523	0	19	345				
FOSB	2354	broad.mit.edu	37	19	45976195	45976195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45976195C>T	uc002pbx.3	+	4	1534	c.942C>T	c.(940-942)TTC>TTT	p.F314F	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	314					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCTCCGCGTTCGCCGGCGCCC	0.577		NaN											0	0	0	0.00333	0	25	169				
FBXO46	23403	broad.mit.edu	37	19	46215530	46215530	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:46215530G>T	uc002pcy.2	-	2	1349	c.1224C>A	c.(1222-1224)CTC>CTA	p.L408L	FBXO46_uc002pcz.2_Silent_p.L408L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	408							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGAAAGAAGAGCTGGCCCG	0.701		NaN											1	0	2.52707e-12	0.006214	3.15063e-12	8	62				
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535945C>G	uc002pfw.2	+	5	673	c.477C>G	c.(475-477)TTC>TTG	p.F159L	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.F159L|NPAS1_uc010xyj.1_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577		NaN									OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	25	101				
NPAS1	4861	broad.mit.edu	37	19	47535976	47535976	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535976C>T	uc002pfw.2	+	5	704	c.508C>T	c.(508-510)CTG>TTG	p.L170L	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Silent_p.L170L|NPAS1_uc010xyj.1_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	170	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CTCCATCTATCTGGGTCTCTC	0.552		NaN									OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001523	0	20	75				
DHX34	9704	broad.mit.edu	37	19	47856631	47856631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47856631C>T	uc010xyn.1	+	2	685	c.344C>T	c.(343-345)ACG>ATG	p.T115M	DHX34_uc010elc.1_Missense_Mutation_p.T115M	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	115						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCCCTGCCACGCGGGGCTCT	0.642		NaN											0	0	0	0.005443	0	27	161				
NAPA	8775	broad.mit.edu	37	19	47998837	47998837	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47998837C>G	uc002pha.1	-	4	612	c.312G>C	c.(310-312)TTG>TTC	p.L104F	uc002pgz.1_RNA|NAPA_uc002phb.1_Missense_Mutation_p.L65F|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Missense_Mutation_p.L104F|NAPA_uc010elf.1_5'UTR	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	104					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGCTCGCATCAAACAGTTAA	0.567		NaN											0	0	0	0.001523	0	19	216				
CCDC114	93233	broad.mit.edu	37	19	48801464	48801464	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:48801464G>T	uc002pir.2	-	11	1946	c.1263C>A	c.(1261-1263)CTC>CTA	p.L421L	CCDC114_uc002piq.2_Silent_p.L230L|CCDC114_uc002pio.2_Silent_p.L458L|CCDC114_uc002pis.1_Silent_p.L101L|CCDC114_uc002pit.1_Silent_p.L458L	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	421										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652		NaN											1	0	3.27435e-08	0.00245	3.98906e-08	15	56				
RASIP1	54922	broad.mit.edu	37	19	49238679	49238679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49238679G>A	uc002pki.2	-	4	1150	c.953C>T	c.(952-954)TCA>TTA	p.S318L		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	318					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAAGTTTTCTGAGCGCTCCTT	0.701		NaN											0	0	0	0.004482	0	8	24				
DHDH	27294	broad.mit.edu	37	19	49436972	49436972	+	Translation_Start_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49436972C>G	uc002ple.1	+	1	34	c.-6C>G	c.(-8--4)ATCGC>ATGGC			NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase						carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCTCCGCATCGCAACCATGG	0.682		NaN											0	0	0	0.008361	0	25	54				
TRPM4	54795	broad.mit.edu	37	19	49661463	49661463	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661463G>T	uc002pmw.2	+	2	111	c.39G>T	c.(37-39)AAG>AAT	p.K13N	TRPM4_uc010emu.2_Missense_Mutation_p.K13N|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Missense_Mutation_p.K13N|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	13	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGATCCCCAAGATCTTCAAGA	0.602		NaN											1	0	3.19358e-47	0.00361	4.09871e-47	73	333				
TRPM4	54795	broad.mit.edu	37	19	49661514	49661514	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661514G>A	uc002pmw.2	+	2	162	c.90G>A	c.(88-90)CCG>CCA	p.P30P	TRPM4_uc010emu.2_Silent_p.P30P|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Silent_p.P30P|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	30	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCACAGATCCGGGGTGAGGAG	0.627		NaN											0	0	0	0.00361	0	55	317				
FCGRT	2217	broad.mit.edu	37	19	50029338	50029338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:50029338G>A	uc002poe.2	+	7	1546	c.1060G>A	c.(1060-1062)GAT>AAT	p.D354N	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.D354N|FCGRT_uc002poi.2_RNA|RCN3_uc002poj.2_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	354	Cytoplasmic (Potential).				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCAGGATGCTGATTTGAAGGA	0.577		NaN											0	0	0	0.003755	0	33	311				
SHANK1	50944	broad.mit.edu	37	19	51165245	51165245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51165245G>A	uc002psx.1	-	23	6482	c.6463C>T	c.(6463-6465)CTC>TTC	p.L2155F	SHANK1_uc002psw.1_Missense_Mutation_p.L1539F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2155	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAGAATTTGAGAGCCCGGTCG	0.612		NaN											0	0	0	0.005443	0	26	89				
ACPT	93650	broad.mit.edu	37	19	51293713	51293713	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51293713C>G	uc002pta.1	+	1	42	c.42C>G	c.(40-42)CTC>CTG	p.L14L		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	14						integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.627		NaN											0	0	0	0.000602	0	4	17				
SIGLEC8	27181	broad.mit.edu	37	19	51958762	51958762	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51958762T>C	uc002pwt.2	-	4	1028	c.961A>G	c.(961-963)AGG>GGG	p.R321G	SIGLEC8_uc010yda.1_Missense_Mutation_p.R212G|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R228G	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	321	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTTCATCCCTCACGTGCACT	0.642		NaN											0	0	0	0.001168	0	6	41				
FPR2	2358	broad.mit.edu	37	19	52272587	52272587	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52272587G>T	uc002pxr.2	+	2	721	c.676G>T	c.(676-678)GCC>TCC	p.A226S	FPR2_uc002pxs.3_Missense_Mutation_p.A226S|FPR2_uc010epf.2_Missense_Mutation_p.A226S	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	226	Helical; Name=5; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						GCTCATTGCAGCCAAGATCCA	0.498		NaN											1	0	4.67007e-22	0.00874	5.94597e-22	42	58				
PPP2R1A	5518	broad.mit.edu	37	19	52719275	52719275	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52719275C>T	uc002pyp.2	+	8	1100	c.941C>T	c.(940-942)TCA>TTA	p.S314L	PPP2R1A_uc010ydk.1_Missense_Mutation_p.S259L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S354L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.S135L	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	314	PP2A subunit B binding.|HEAT 8.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAACCTCTCAGCTGACTGT	0.547		NaN	Mis		clear cell ovarian carcinoma								0	0	0	0.002222	0	43	51				
ZNF845	91664	broad.mit.edu	37	19	53856074	53856074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:53856074G>C	uc010ydv.1	+	4	2263	c.2146G>C	c.(2146-2148)GAG>CAG	p.E716Q	ZNF845_uc010ydw.1_Missense_Mutation_p.E716Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	716				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATACTGGAGAGAAACCTTA	0.418		NaN											0	0	0	0.004289	0	37	118				
CACNG6	59285	broad.mit.edu	37	19	54496189	54496189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54496189C>T	uc002qct.2	+	1	648	c.58C>T	c.(58-60)CGG>TGG	p.R20W	CACNG6_uc002qcu.2_Missense_Mutation_p.R20W|CACNG6_uc002qcv.2_Missense_Mutation_p.R20W	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	20						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggccgcgggccggcggcgggc	0.572		NaN											0	0	0	0.000248	0	4	31				
TTYH1	57348	broad.mit.edu	37	19	54933464	54933464	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54933464G>C	uc002qfq.2	+	4	610	c.518G>C	c.(517-519)CGA>CCA	p.R173P	TTYH1_uc010yey.1_Missense_Mutation_p.R222P|TTYH1_uc002qfr.2_Missense_Mutation_p.R173P|TTYH1_uc002qft.2_Missense_Mutation_p.R173P|TTYH1_uc002qfu.1_Missense_Mutation_p.R85P	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	173	Extracellular (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCTGCCGCCCGAGGGGCTCGA	0.711		NaN											0	0	0	0.000248	0	4	9				
NCR1	9437	broad.mit.edu	37	19	55420603	55420603	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55420603G>A	uc002qib.2	+	4	394	c.356_splice	c.e4-1	p.E119_splice	NCR1_uc002qic.2_Splice_Site_p.E119_splice|NCR1_uc002qie.2_Splice_Site_p.E119_splice|NCR1_uc002qid.2_Splice_Site_p.Q24_splice|NCR1_uc002qif.2_Splice_Site_p.Q24_splice|NCR1_uc010esj.2_Splice_Site_p.E12_splice	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		TTCTCTCATAGAAATGTATGA	0.408		NaN											0	0	0	0.001168	0	5	65				
RDH13	112724	broad.mit.edu	37	19	55570559	55570559	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55570559G>A	uc002qio.3	-	2	335	c.150C>T	c.(148-150)ATC>ATT	p.I50I	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	50	NAD or NADP (By similarity).						binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TCTGCTTCCCGATGCCTGTGT	0.483		NaN											0	0	0	0.006214	0	10	8				
ZNF471	57573	broad.mit.edu	37	19	57036421	57036421	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:57036421G>A	uc002qnh.2	+	5	1118	c.985G>A	c.(985-987)GAT>AAT	p.D329N		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	329	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTTCAGTGATGGCTCGTC	0.433		NaN											0	0	0	0.003954	0	21	91				
ZNF549	256051	broad.mit.edu	37	19	58049333	58049333	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58049333G>A	uc002qpb.1	+	4	1210	c.961G>A	c.(961-963)GAA>AAA	p.E321K	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E308K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	321	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCACTTGTGGAACACCAGAG	0.438		NaN											0	0	0	0.001523	0	21	90				
ZSCAN1	284312	broad.mit.edu	37	19	58551908	58551908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58551908C>T	uc002qrc.1	+	4	708	c.461C>T	c.(460-462)TCG>TTG	p.S154L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	154					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAAGAACCATCGCAGGTGAGC	0.627		NaN											0	0	0	0.006214	0	9	172				
ZSCAN22	342945	broad.mit.edu	37	19	58850581	58850581	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850581G>C	uc002qsc.2	+	3	1512	c.1365G>C	c.(1363-1365)CAG>CAC	p.Q455H	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	455	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTGAGCACCAGAGGATCCACA	0.542		NaN											0	0	0	0.001855	0	14	116				
ZSCAN22	342945	broad.mit.edu	37	19	58850597	58850597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850597G>C	uc002qsc.2	+	3	1528	c.1381G>C	c.(1381-1383)GAG>CAG	p.E461Q	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCACACGGGAGAGAAGCCTTA	0.542		NaN											0	0	0	0.004482	0	8	110				
ZBTB45	84878	broad.mit.edu	37	19	59025544	59025544	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:59025544C>T	uc002qtd.2	-	3	1705	c.1413G>A	c.(1411-1413)AAG>AAA	p.K471K	SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qte.2_Silent_p.K471K|ZBTB45_uc002qtf.2_Silent_p.K471K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	471	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGAGCGAGCTCTTCTGCGTGA	0.682		NaN											0	0	0	0.001984	0	6	30				
TMEM18	129787	broad.mit.edu	37	2	675513	675513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:675513G>T	uc002qwl.2	-	2	269	c.175C>A	c.(175-177)CTA>ATA	p.L59I	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	59	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TACTCACCTAGACACAGAAAG	0.483		NaN											1	0	3.86212e-05	0.008291	4.61915e-05	9	113				
SNTG2	54221	broad.mit.edu	37	2	1263181	1263181	+	Missense_Mutation	SNP	C	C	G	rs145354756	by1000genomes	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:1263181C>G	uc002qwq.2	+	13	1173	c.1045C>G	c.(1045-1047)CAC>GAC	p.H349D	SNTG2_uc010ewi.2_Missense_Mutation_p.H222D	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	349	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGGACCTATCACCTCTGTGA	0.413		NaN											0	0	0	0.003755	0	30	64				
COLEC11	78989	broad.mit.edu	37	2	3660949	3660949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:3660949G>C	uc002qya.2	+	3	327	c.179G>C	c.(178-180)AGA>ACA	p.R60T	COLEC11_uc002qxz.2_Missense_Mutation_p.E31Q|COLEC11_uc002qyb.2_Intron|COLEC11_uc002qyc.2_Missense_Mutation_p.R60T|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.R34T|COLEC11_uc010ewq.2_Intron|COLEC11_uc010ewr.2_Missense_Mutation_p.R34T|COLEC11_uc010ews.2_Intron	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	60						collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGGCCTGGAAGAGTCGGCCCC	0.647		NaN											0	0	0	0.000602	0	4	17				
KLF11	8462	broad.mit.edu	37	2	10187909	10187909	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10187909C>G	uc002raf.1	+	3	607	c.445C>G	c.(445-447)CTG>GTG	p.L149V	KLF11_uc010yjc.1_Missense_Mutation_p.L132V	NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	149				VVARALS -> QWPDSD (in Ref. 3).	apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GGCCAGAGCTCTGAGCGGGGG	0.612		NaN											0	0	0	0.00278	0	23	51				
RRM2	6241	broad.mit.edu	37	2	10269373	10269373	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10269373G>C	uc002rah.2	+	10	1221	c.1030G>C	c.(1030-1032)GAG>CAG	p.E344Q		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	344					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTTCAGAGTAGAGAACCCATT	0.378		NaN											0	0	0	0.004482	0	9	53				
GREB1	9687	broad.mit.edu	37	2	11756766	11756766	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:11756766C>G	uc002rbk.1	+	21	3632	c.3332C>G	c.(3331-3333)TCG>TGG	p.S1111W	GREB1_uc002rbp.1_Missense_Mutation_p.S109W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1111	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTCTACCTCGGAGAAGAGA	0.413		NaN											0	0	0	0.00632	0	27	168				
MYCN	4613	broad.mit.edu	37	2	16082244	16082244	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:16082244G>C	uc002rci.2	+	2	358	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E12Q	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	20					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCAGACCTCGAGTTTGACTC	0.642		NaN	A		neuroblastoma								0	0	0	0.000602	0	5	41				
HADHA	3030	broad.mit.edu	37	2	26414459	26414459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26414459C>G	uc002rgy.2	-	19	2169	c.2039G>C	c.(2038-2040)AGA>ACA	p.R680T	HADHA_uc010yks.1_Missense_Mutation_p.R593T	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	680					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	ATTCACAAATCTTGTCACCAG	0.542		NaN											0	0	0	0.007835	0	38	61				
HADHB	3032	broad.mit.edu	37	2	26501592	26501592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26501592G>C	uc002rgz.2	+	8	804	c.553G>C	c.(553-555)GAT>CAT	p.D185H	HADHB_uc010ykv.1_Missense_Mutation_p.D163H|HADHB_uc010ykw.1_Missense_Mutation_p.D170H|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.D111H	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	185					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGATGCTTGATCTCAATAA	0.453		NaN											0	0	0	0.000978	0	12	81				
PPP1CB	5500	broad.mit.edu	37	2	29016810	29016810	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29016810G>C	uc002rmg.2	+	8	986	c.826G>C	c.(826-828)GAT>CAT	p.D276H	PPP1CB_uc010ymj.1_Missense_Mutation_p.D248H|PPP1CB_uc010yml.1_Missense_Mutation_p.D248H|PPP1CB_uc002rmh.2_Missense_Mutation_p.D276H|SPDYA_uc002rmi.2_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	276					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGGCGAGTTTGATAATGCTGG	0.348		NaN											0	0	0	0.00333	0	25	53				
ALK	238	broad.mit.edu	37	2	29519819	29519819	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29519819G>A	uc002rmy.2	-	9	2659	c.1752C>T	c.(1750-1752)GTC>GTT	p.V584V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	584	MAM 2.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATAGGCGGCGACATGCCAGA	0.557		NaN	T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				0	0	0	0.001368	0	12	38				
BIRC6	57448	broad.mit.edu	37	2	32678919	32678919	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:32678919C>T	uc010ezu.2	+	23	4796	c.4662C>T	c.(4660-4662)TTC>TTT	p.F1554F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1554					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGGTAGTTTCACATCTCTCA	0.383		NaN											0	0	0	0.00361	0	70	125				
EIF2AK2	5610	broad.mit.edu	37	2	37374019	37374019	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:37374019C>G	uc010ynh.1	-	4	774	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	EIF2AK2_uc010fab.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E73Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E73Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	73	DRBM 1.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTAAGTATCTCAACAGCTAAT	0.343		NaN											0	0	0	0.003954	0	26	64				
SOS1	6654	broad.mit.edu	37	2	39249913	39249913	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39249913C>G	uc002rrk.3	-	10	1697	c.1656G>C	c.(1654-1656)AGG>AGC	p.R552S	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.R166S|SOS1_uc002rrl.2_Missense_Mutation_p.R284S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	552			R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation).|R -> S (in NS4).|R -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CATCAAGCATCCTTTCCAGTG	0.403		NaN							Noonan_syndrome				0	0	0	0.008361	0	29	83				
SOS1	6654	broad.mit.edu	37	2	39250197	39250197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39250197C>T	uc002rrk.3	-	10	1413	c.1372G>A	c.(1372-1374)GAG>AAG	p.E458K	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.E72K|SOS1_uc002rrl.2_Missense_Mutation_p.E190K	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	458	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				ATGTGTCTCTCATGTTTGGCT	0.388		NaN							Noonan_syndrome				0	0	0	0.004878	0	37	75				
MAP4K3	8491	broad.mit.edu	37	2	39477777	39477777	+	Silent	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39477777A>G	uc002rro.2	-	34	2758	c.2667T>C	c.(2665-2667)GGT>GGC	p.G889G	MAP4K3_uc002rrp.2_Silent_p.G868G|MAP4K3_uc010yns.1_Silent_p.G442G	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	889					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TGTTTTCATGACCCGCCAGGA	0.378		NaN											0	0	0	0.00308	0	7	35				
MAP4K3	8491	broad.mit.edu	37	2	39505625	39505625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39505625G>A	uc002rro.2	-	24	1808	c.1717C>T	c.(1717-1719)CAG>TAG	p.Q573*	MAP4K3_uc002rrp.2_Nonsense_Mutation_p.Q552*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.Q126*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	573	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				ATCAAGTACTGATCTGAAATA	0.254		NaN											0	0	0	0.001984	0	6	37				
PLEKHH2	130271	broad.mit.edu	37	2	43937240	43937240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43937240C>T	uc010yny.1	+	12	2161	c.2078C>T	c.(2077-2079)TCA>TTA	p.S693L	PLEKHH2_uc002rte.3_Missense_Mutation_p.S693L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S692L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	693	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAACTTGCTCATCTTCCAGT	0.398		NaN											0	0	0	0.008291	0	11	100				
PLEKHH2	130271	broad.mit.edu	37	2	43992600	43992600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43992600C>T	uc010yny.1	+	30	4428	c.4345C>T	c.(4345-4347)CAG>TAG	p.Q1449*		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1449	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAACTTCCATCAGCAAAAGGC	0.468		NaN											0	0	0	0.001786	0	27	53				
SIX3	6496	broad.mit.edu	37	2	45169727	45169727	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:45169727C>T	uc002run.1	+	1	691	c.484C>T	c.(484-486)CAC>TAC	p.H162Y		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	162					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGGAGTCTCACGGCAAGCT	0.662		NaN											0	0	0	0.001984	0	6	21				
GPR75	10936	broad.mit.edu	37	2	54080974	54080974	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:54080974G>A	uc002rxo.3	-	2	1191	c.920C>T	c.(919-921)TCA>TTA	p.S307L	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	307	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTGATGGCTGATACGAGCTG	0.532		NaN											0	0	0	0.008291	0	11	41				
RAB11FIP5	26056	broad.mit.edu	37	2	73339501	73339501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339501G>A	uc002siu.3	-	1	646	c.405C>T	c.(403-405)TTC>TTT	p.F135F		NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	135					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						GGCCTGCGCCGAAGACCTCGT	0.711		NaN											0	0	0	0.008871	0	17	22				
RAB11FIP5	26056	broad.mit.edu	37	2	73339600	73339600	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339600G>A	uc002siu.3	-	1	547	c.306C>T	c.(304-306)TCC>TCT	p.S102S		NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	102	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						AGGCGGCGGCGGAGCTCGCGG	0.751		NaN											0	0	0	0.001984	0	6	14				
NAT8B	51471	broad.mit.edu	37	2	73928087	73928087	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73928087C>G	uc002sjk.1	-	2	381	c.346G>C	c.(346-348)GAG>CAG	p.E116Q		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	N-acetyltransferase 8B	116	N-acetyltransferase.				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity				0						ACCACCTTCTCTTCAGATTCA	0.537		NaN											0	0	0	0.003163	0	14	68				
BOLA3	388962	broad.mit.edu	37	2	74372361	74372361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74372361C>G	uc002skc.1	-	2	162	c.124G>C	c.(124-126)GAA>CAA	p.E42Q	BOLA3_uc002skd.1_Missense_Mutation_p.E42Q|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN	bolA-like 3 isoform 1	42						extracellular region					0						GGAAACTTTTCTTTGAGAATT	0.478		NaN											0	0	0	0.006214	0	10	74				
DCTN1	1639	broad.mit.edu	37	2	74598163	74598163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74598163C>G	uc002skx.2	-	9	1097	c.786G>C	c.(784-786)AAG>AAC	p.K262N	DCTN1_uc002skv.2_Missense_Mutation_p.K128N|DCTN1_uc002sku.2_Missense_Mutation_p.K128N|DCTN1_uc002skw.1_Missense_Mutation_p.K238N|DCTN1_uc010ffd.2_Missense_Mutation_p.K242N|DCTN1_uc002sky.2_Missense_Mutation_p.K225N	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	262	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCATTTTGCTCTTCCATTCCT	0.552		NaN											0	0	0	0.00361	0	59	373				
LOXL3	84695	broad.mit.edu	37	2	74762786	74762786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74762786C>T	uc002smp.1	-	8	1417	c.1345G>A	c.(1345-1347)GAC>AAC	p.D449N	LOXL3_uc002smo.1_Missense_Mutation_p.D88N|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.D304N|LOXL3_uc010ffn.1_Missense_Mutation_p.D304N	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	449	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						GTCCCCCAGTCATCCCCACAG	0.662		NaN											0	0	0	0.00333	0	23	114				
C2orf3	6936	broad.mit.edu	37	2	75915007	75915007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:75915007C>G	uc002sno.2	-	11	1766	c.1636G>C	c.(1636-1638)GAT>CAT	p.D546H	C2orf3_uc010ffs.2_Missense_Mutation_p.D108H|C2orf3_uc002snn.2_Missense_Mutation_p.D377H|C2orf3_uc010fft.2_Missense_Mutation_p.D221H	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	546					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						ACTTTTTTATCTGAACTACTT	0.348		NaN											0	0	0	0.004482	0	8	55				
KCMF1	56888	broad.mit.edu	37	2	85262250	85262250	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85262250C>G	uc002sox.3	+	3	640	c.296C>G	c.(295-297)TCT>TGT	p.S99C		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	99	C2H2-type.					intracellular	ligase activity|zinc ion binding			ovary(2)	2						CATGTTACTTCTGAACATGCA	0.378		NaN											0	0	0	0.00499	0	16	24				
VAMP5	10791	broad.mit.edu	37	2	85820206	85820206	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85820206C>T	uc002spu.1	+	3	360	c.277C>T	c.(277-279)CTC>TTC	p.L93F	RNF181_uc002spv.1_5'Flank	NM_006634	NP_006625	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	93	Helical; Anchor for type IV membrane protein; (Potential).				cell differentiation|vesicle-mediated transport	endomembrane system					0						GGTCGTCTTTCTCCCTCAGAG	0.592		NaN											0	0	0	0.003163	0	15	65				
SEMA4C	54910	broad.mit.edu	37	2	97529515	97529515	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:97529515G>C	uc002sxh.3	-	12	1507	c.1347C>G	c.(1345-1347)CTC>CTG	p.L449L	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.L502L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	449	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TCACAGCCTTGAGCAGCCAGC	0.617		NaN											0	0	0	0.000602	0	4	49				
TMEM131	23505	broad.mit.edu	37	2	98377308	98377308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:98377308C>G	uc002syh.3	-	37	5188	c.4959G>C	c.(4957-4959)AAG>AAC	p.K1653N	TMEM131_uc002syg.2_Missense_Mutation_p.K33N	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1653						integral to membrane				ovary(4)|central_nervous_system(2)	6						GGTTGCCGTTCTTGCCCGGGA	0.537		NaN											0	0	0	0.003163	0	15	69				
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:105859262A>C	uc002tco.1	+	1	1063	c.947A>C	c.(946-948)AAG>ACG	p.K316T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						AGTTACCTCAAGTCCGTCTTC	0.547		NaN											0	0	0	0.007413	0	19	127				
CBWD2	150472	broad.mit.edu	37	2	114220043	114220043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:114220043G>A	uc002tju.2	+	8	812	c.634G>A	c.(634-636)GAT>AAT	p.D212N	CBWD2_uc010yxw.1_Missense_Mutation_p.D176N|CBWD2_uc002tjv.2_Missense_Mutation_p.D176N|CBWD2_uc010fkv.2_RNA	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN	COBW domain-containing protein 2	212							ATP binding|protein binding				0						TCCAGAAGAAGATGTAAAGAA	0.323		NaN											0	0	0	0.002852	0	40	95				
STEAP3	55240	broad.mit.edu	37	2	120003084	120003084	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:120003084G>C	uc002tlp.2	+	3	169	c.12G>C	c.(10-12)GAG>GAC	p.E4D	STEAP3_uc002tlq.2_Missense_Mutation_p.E14D|STEAP3_uc002tlr.2_Missense_Mutation_p.E4D|STEAP3_uc010fle.2_Missense_Mutation_p.E4D	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	4	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						TGCCAGAAGAGATGGACAAGC	0.587		NaN											0	0	0	0.001168	0	5	55				
MYO7B	4648	broad.mit.edu	37	2	128388376	128388376	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:128388376G>C	uc002top.2	+	35	4805	c.4752G>C	c.(4750-4752)GAG>GAC	p.E1584D	MYO7B_uc002tor.1_Missense_Mutation_p.E437D	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1584						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCACCAGAGAAGAGGAAGC	0.637		NaN											0	0	0	0.000602	0	5	45				
MCM6	4175	broad.mit.edu	37	2	136626327	136626327	+	Silent	SNP	G	G	A	rs34276971		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136626327G>A	uc002tuw.2	-	4	545	c.469C>T	c.(469-471)CTG>TTG	p.L157L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	157					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCCAAGCACAGAAAAGTTCCG	0.517		NaN											0	0	0	0.00623	0	41	99				
CXCR4	7852	broad.mit.edu	37	2	136872950	136872950	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136872950C>T	uc002tuz.2	-	2	643	c.548G>A	c.(547-549)AGA>AAA	p.R183K	CXCR4_uc002tuy.2_Missense_Mutation_p.R187K|CXCR4_uc010fnk.2_Missense_Mutation_p.R168K	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	183	Extracellular.			R->A: Reduced coreceptor activity for several HIV-1 isolates.	activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	ACAGATATATCTGTCATCTGC	0.507		NaN											0	0	0	0.001368	0	13	84				
THSD7B	80731	broad.mit.edu	37	2	137852590	137852590	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:137852590G>A	uc002tva.1	+	3	1005	c.1005G>A	c.(1003-1005)CGG>CGA	p.R335R	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.R225R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGGAGCCGGAACGTGAAGC	0.537		NaN											0	0	0	0.00308	0	7	47				
LRP1B	53353	broad.mit.edu	37	2	141762977	141762977	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:141762977C>G	uc002tvj.1	-	15	3402	c.2430G>C	c.(2428-2430)TTG>TTC	p.L810F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	810	Extracellular (Potential).|EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGGATAGCCAAGCAAAGTG	0.433		NaN								TSP Lung(27;0.18)			0	0	0	0.006214	0	9	72				
ARHGAP15	55843	broad.mit.edu	37	2	144194515	144194515	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194515G>C	uc002tvm.3	+	8	758	c.607G>C	c.(607-609)GAA>CAA	p.E203Q	ARHGAP15_uc010zbl.1_Missense_Mutation_p.E203Q|ARHGAP15_uc002tvn.2_5'UTR	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	203					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAGAAACCTGGAATTATTCAA	0.338		NaN											0	0	0	0.001368	0	11	38				
ARHGAP15	55843	broad.mit.edu	37	2	144194548	144194548	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194548G>A	uc002tvm.3	+	8	791	c.640G>A	c.(640-642)GAA>AAA	p.E214K	ARHGAP15_uc010zbl.1_Missense_Mutation_p.E214K|ARHGAP15_uc002tvn.2_5'UTR	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	214					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCTAGCACTGAATTGCTAAG	0.333		NaN											0	0	0	0.001984	0	6	39				
STAM2	10254	broad.mit.edu	37	2	153006744	153006744	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:153006744C>T	uc002tyc.3	-	2	391	c.41_splice	c.e2-1	p.E14_splice	STAM2_uc010foa.1_Splice_Site_p.E14_splice|STAM2_uc002tyd.2_Splice_Site_p.E14_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2						cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTGGCTTTTTCTATAAAATAT	0.353		NaN											0	0	0	0.000602	0	4	29				
BAZ2B	29994	broad.mit.edu	37	2	160182266	160182266	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:160182266C>A	uc002uao.2	-	35	6459	c.6107G>T	c.(6106-6108)AGA>ATA	p.R2036I	BAZ2B_uc002uap.2_Missense_Mutation_p.R2000I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTCCATTTTTCTTTTCTTGAG	0.353		NaN											1	0	2.40579e-17	0.00623	3.03889e-17	39	84				
GRB14	2888	broad.mit.edu	37	2	165349549	165349549	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:165349549G>C	uc002ucl.2	-	14	2161	c.1620C>G	c.(1618-1620)CTC>CTG	p.L540L	GRB14_uc010zcv.1_Silent_p.L453L|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	540					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						GGCTTGTCTAGAGAGCAATCC	0.353		NaN											0	0	0	0.006122	0	18	47				
SCN2A	6326	broad.mit.edu	37	2	166198839	166198839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166198839C>T	uc002udc.2	+	15	2712	c.2422C>T	c.(2422-2424)CTC>TTC	p.L808F	SCN2A_uc002udd.2_Missense_Mutation_p.L808F|SCN2A_uc002ude.2_Missense_Mutation_p.L808F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	808	II.|Helical; Name=S2 of repeat II; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGAAATGTTTCTCAAGATAAT	0.343		NaN											0	0	0	0.004656	0	24	51				
SCN2A	6326	broad.mit.edu	37	2	166231393	166231393	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166231393G>C	uc002udc.2	+	22	4461	c.4171G>C	c.(4171-4173)GAG>CAG	p.E1391Q	SCN2A_uc002udd.2_Missense_Mutation_p.E1391Q|SCN2A_uc002ude.2_Missense_Mutation_p.E1391Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1391	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCTCTCATTGAGAGCAATCA	0.378		NaN											0	0	0	0.002299	0	22	35				
SCN1A	6323	broad.mit.edu	37	2	166898905	166898905	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166898905C>G	uc010zcz.1	-	12	2058	c.2040G>C	c.(2038-2040)AAG>AAC	p.K680N	SCN1A_uc002udo.3_Missense_Mutation_p.K560N|SCN1A_uc010fpk.2_Missense_Mutation_p.K532N	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	691						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGACCTTCTCTTTCTCATTT	0.368		NaN											0	0	0	0.00632	0	29	45				
ITGA6	3655	broad.mit.edu	37	2	173355768	173355768	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:173355768G>A	uc002uhp.1	+	21	2899	c.2696G>A	c.(2695-2697)AGA>AAA	p.R899K	ITGA6_uc010zdy.1_Missense_Mutation_p.R780K|ITGA6_uc002uho.1_Missense_Mutation_p.R899K|ITGA6_uc010fqm.1_Missense_Mutation_p.R530K	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	938	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CACAACTCAAGAAAGAAACGG	0.308		NaN											0	0	0	0.003755	0	35	191				
CIR1	9541	broad.mit.edu	37	2	175213338	175213338	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175213338C>T	uc002uim.2	-	10	1333	c.1240G>A	c.(1240-1242)GAG>AAG	p.E414K	CIR1_uc002uin.2_Missense_Mutation_p.E288K|CIR1_uc002uio.2_Missense_Mutation_p.E241K|CIR1_uc002uip.2_Missense_Mutation_p.E303K	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	414	Arg/Ser-rich (RS domain).				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						CTGCTTTGCTCTTCACCAGGA	0.507		NaN											0	0	0	0.007835	0	43	251				
WIPF1	7456	broad.mit.edu	37	2	175436406	175436406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175436406G>C	uc002uiy.2	-	6	1459	c.1127C>G	c.(1126-1128)TCA>TGA	p.S376*	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Nonsense_Mutation_p.S376*|WIPF1_uc010fqt.1_Nonsense_Mutation_p.S376*|WIPF1_uc002ujc.1_Nonsense_Mutation_p.S376*|WIPF1_uc002uiz.2_Nonsense_Mutation_p.S376*|WIPF1_uc002ujb.1_Nonsense_Mutation_p.S376*|WIPF1_uc010zep.1_Nonsense_Mutation_p.S376*	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	376	XRSGPXPPXP motif 2.|Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						TGTCATACCTGATCGGCCTGG	0.562		NaN											0	0	0	0.003954	0	22	135				
TTC30B	150737	broad.mit.edu	37	2	178417039	178417039	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:178417039C>G	uc002uln.2	-	1	486	c.453G>C	c.(451-453)GAG>GAC	p.E151D	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	151					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CGGTCTCATTCTCGCCCCCAC	0.582		NaN											0	0	0	0.00361	0	51	327				
TTN	7273	broad.mit.edu	37	2	179455083	179455083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179455083C>T	uc010zfg.1	-	253	53889	c.53665G>A	c.(53665-53667)GAG>AAG	p.E17889K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11584K|TTN_uc010zfi.1_Missense_Mutation_p.E11517K|TTN_uc010zfj.1_Missense_Mutation_p.E11392K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18816							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGGCTCACCCTCTCCT	0.408		NaN											0	0	0	0.001855	0	14	103				
TTN	7273	broad.mit.edu	37	2	179611886	179611886	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179611886G>C	uc002unb.2	-	46	15465	c.15241C>G	c.(15241-15243)CTA>GTA	p.L5081V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	1188							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTCTCTAGAGTCTCTCCT	0.552		NaN											0	0	0	0.008361	0	30	69				
DNAH7	56171	broad.mit.edu	37	2	196718190	196718190	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:196718190C>T	uc002utj.3	-	46	8759	c.8658G>A	c.(8656-8658)GAG>GAA	p.E2886E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2886					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATCGAGTTTTCTCACCTCCAA	0.463		NaN											0	0	0	0.004482	0	9	54				
STK17B	9262	broad.mit.edu	37	2	197010766	197010766	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:197010766C>T	uc002utk.2	-	4	673	c.349G>A	c.(349-351)GAA>AAA	p.E117K	STK17B_uc010fsh.2_Missense_Mutation_p.E117K	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	117	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTGAAAATTTCTCCACCTGCA	0.313		NaN											0	0	0	0.001168	0	6	9				
SATB2	23314	broad.mit.edu	37	2	200213701	200213701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200213701G>C	uc002uuy.1	-	7	1713	c.896C>G	c.(895-897)TCT>TGT	p.S299C	SATB2_uc010fsq.1_Missense_Mutation_p.S181C|SATB2_uc002uuz.1_Missense_Mutation_p.S299C|SATB2_uc002uva.1_Missense_Mutation_p.S299C|SATB2_uc002uvb.1_Missense_Mutation_p.S42C	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	299						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAGCTGGGGAGAAAGAAGACC	0.507		NaN											0	0	0	0.00333	0	23	124				
C2orf60	129450	broad.mit.edu	37	2	200803731	200803731	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200803731G>C	uc002uvi.3	-	5	677	c.411C>G	c.(409-411)TTC>TTG	p.F137L	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	137	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						CCTCTTTGAAGAATTCTGGAA	0.308		NaN											0	0	0	0.000602	0	5	36				
ALS2CR8	79800	broad.mit.edu	37	2	203839184	203839184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203839184G>A	uc002uzo.2	+	12	1739	c.1459G>A	c.(1459-1461)GAT>AAT	p.D487N	ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zib.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zic.1_Missense_Mutation_p.D399N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.D487N	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	487										large_intestine(1)|ovary(1)	2						GAGAAATGGAGATACGGTATA	0.323		NaN											0	0	0	0.004007	0	15	37				
ALS2CR8	79800	broad.mit.edu	37	2	203842024	203842024	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203842024C>G	uc002uzo.2	+	13	1807	c.1527C>G	c.(1525-1527)CTC>CTG	p.L509L	ALS2CR8_uc010zia.1_Silent_p.L433L|ALS2CR8_uc010zib.1_Silent_p.L433L|ALS2CR8_uc010zic.1_Silent_p.L421L|ALS2CR8_uc002uzp.2_Silent_p.L509L	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	509										large_intestine(1)|ovary(1)	2						GGAATATTCTCAAAGAGACCA	0.269		NaN											0	0	0	0.005443	0	26	118				
DYTN	391475	broad.mit.edu	37	2	207530676	207530676	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207530676C>A	uc002vbr.1	-	10	1175	c.1058G>T	c.(1057-1059)CGA>CTA	p.R353L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	353						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCAAATCGACAAATTCT	0.393		NaN											1	0	3.32936e-07	0.006122	4.03219e-07	17	80				
MDH1B	130752	broad.mit.edu	37	2	207615685	207615685	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207615685C>T	uc002vbs.2	-	6	1080	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R342H|MDH1B_uc010fuj.2_Missense_Mutation_p.R244H|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	342					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAAAACAGGGCGTGAATAATG	0.328		NaN											0	0	0	0.000978	0	12	46				
C2orf67	151050	broad.mit.edu	37	2	210993855	210993855	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:210993855C>G	uc002vds.2	-	3	1338	c.1130G>C	c.(1129-1131)CGA>CCA	p.R377P	C2orf67_uc002vdt.2_Missense_Mutation_p.R377P|C2orf67_uc002vdw.2_Missense_Mutation_p.R377P|C2orf67_uc002vdv.2_Missense_Mutation_p.R377P|C2orf67_uc002vdx.1_Missense_Mutation_p.R377P	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	377										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		GCTGCCAACTCGTGCTCTGTC	0.433		NaN											0	0	0	0.001855	0	14	114				
IKZF2	22807	broad.mit.edu	37	2	213872434	213872434	+	Missense_Mutation	SNP	C	C	G	rs76325907		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:213872434C>G	uc002vem.2	-	8	1400	c.1231G>C	c.(1231-1233)GAA>CAA	p.E411Q	IKZF2_uc010fuu.2_Missense_Mutation_p.E266Q|IKZF2_uc002vej.2_Missense_Mutation_p.E358Q|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.E337Q|IKZF2_uc002vel.2_Missense_Mutation_p.E332Q|IKZF2_uc010fuw.2_Missense_Mutation_p.E185Q|IKZF2_uc010fux.2_Missense_Mutation_p.E185Q|IKZF2_uc010fuy.2_Missense_Mutation_p.E339Q|IKZF2_uc002ven.2_Missense_Mutation_p.E385Q|IKZF2_uc002vei.2_Missense_Mutation_p.E189Q	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGCTGCTTTCTGAGTCAGTG	0.507		NaN											0	0	0	0.00361	0	86	171				
ATIC	471	broad.mit.edu	37	2	216213870	216213870	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216213870C>T	uc002vex.3	+	15	1731	c.1557C>T	c.(1555-1557)CTC>CTT	p.L519L	ATIC_uc010zjo.1_Silent_p.L460L|ATIC_uc002vey.3_Silent_p.L518L	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	519					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTGAGTTACTCACTGAGGCAG	0.448		NaN	T	ALK	ALCL								0	0	0	0.003755	0	34	87				
FN1	2335	broad.mit.edu	37	2	216273063	216273063	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216273063C>A	uc002vfa.2	-	16	2652	c.2386G>T	c.(2386-2388)GAT>TAT	p.D796Y	FN1_uc002vfb.2_Missense_Mutation_p.D796Y|FN1_uc002vfc.2_Missense_Mutation_p.D796Y|FN1_uc002vfd.2_Missense_Mutation_p.D796Y|FN1_uc002vfe.2_Missense_Mutation_p.D796Y|FN1_uc002vff.2_Missense_Mutation_p.D796Y|FN1_uc002vfg.2_Missense_Mutation_p.D796Y|FN1_uc002vfh.2_Missense_Mutation_p.D796Y|FN1_uc002vfi.2_Missense_Mutation_p.D796Y|FN1_uc002vfj.2_Missense_Mutation_p.D796Y	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	796	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCCCCATCCTCAGATATC	0.408		NaN											1	0	1.22574e-08	0.002299	1.49836e-08	24	67				
RNF25	64320	broad.mit.edu	37	2	219532976	219532976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219532976G>A	uc002vit.2	-	3	293	c.205C>T	c.(205-207)CAG>TAG	p.Q69*	RNF25_uc010fvw.2_5'UTR	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	69	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGGACCTGAAGCACCAGA	0.547		NaN											0	0	0	0.00333	0	26	56				
TTLL4	9654	broad.mit.edu	37	2	219603658	219603658	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219603658G>A	uc002viy.2	+	3	1629	c.1259G>A	c.(1258-1260)AGC>AAC	p.S420N	TTLL4_uc010zkl.1_Missense_Mutation_p.S255N|TTLL4_uc010fvx.2_Missense_Mutation_p.S420N	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	420					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAGCGTATCAGCATTCACCTC	0.532		NaN											0	0	0	0.007291	0	29	95				
WNT6	7475	broad.mit.edu	37	2	219738481	219738481	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219738481G>C	uc002vjc.1	+	4	1227	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	338					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTCGAAGAGAACTGCCT	0.711		NaN											0	0	0	0.004672	0	3	14				
IHH	3549	broad.mit.edu	37	2	219920403	219920403	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219920403C>T	uc002vjo.1	-	3	762	c.762G>A	c.(760-762)CTG>CTA	p.L254L		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	254					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGGCTCTCAGCCTGTGAG	0.652		NaN											0	0	0	0.007413	0	20	25				
PAX3	5077	broad.mit.edu	37	2	223065952	223065952	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:223065952G>C	uc002vmt.1	-	10	1825	c.1459C>G	c.(1459-1461)CAA>GAA	p.Q487E	PAX3_uc002vmy.1_3'UTR|PAX3_uc002vmv.1_3'UTR|PAX3_uc002vmw.1_Missense_Mutation_p.F404L|PAX3_uc002vmx.1_3'UTR	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	Error:Variant_position_missing_in_P23760_after_alignment					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAAGGATTTGAAACCAACTA	0.408		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.000978	0	10	43				
DOCK10	55619	broad.mit.edu	37	2	225642870	225642870	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:225642870G>C	uc010fwz.1	-	51	6026	c.5787C>G	c.(5785-5787)ATC>ATG	p.I1929M	DOCK10_uc002vob.2_Missense_Mutation_p.I1923M|DOCK10_uc002voa.2_Missense_Mutation_p.I585M	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1929	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGAATCCTGGATTATCTTCA	0.353		NaN											0	0	0	0.004482	0	8	30				
COL4A3	1285	broad.mit.edu	37	2	228174028	228174028	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228174028C>T	uc002vom.1	+	50	4911	c.4749C>T	c.(4747-4749)TTC>TTT	p.F1583F	COL4A3_uc002von.1_Silent_p.F1583F|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1583	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATTTTCATTCATCATGGTGA	0.473		NaN											0	0	0	0.001168	0	5	22				
SPHKAP	80309	broad.mit.edu	37	2	228883230	228883230	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228883230C>T	uc002vpq.2	-	7	2387	c.2340G>A	c.(2338-2340)ACG>ACA	p.T780T	SPHKAP_uc002vpp.2_Silent_p.T780T|SPHKAP_uc010zlx.1_Silent_p.T780T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	780						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACAAGACTCGTGTTGTGTG	0.502		NaN											0	0	0	0.00361	0	46	124				
GPR55	9290	broad.mit.edu	37	2	231775629	231775629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:231775629C>T	uc002vrg.2	-	2	242	c.49G>A	c.(49-51)GAG>AAG	p.E17K	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.E17K	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	17	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCATCAGCTCGTTGACACCG	0.527		NaN											0	0	0	0.004007	0	17	75				
DGKD	8527	broad.mit.edu	37	2	234343105	234343105	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:234343105C>T	uc002vui.1	+	4	440	c.428C>T	c.(427-429)ACT>ATT	p.T143I	DGKD_uc002vuj.1_Missense_Mutation_p.T99I|DGKD_uc010fyh.1_Missense_Mutation_p.T10I|DGKD_uc002vuk.1_Missense_Mutation_p.T10I	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	143	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCATTAAAGACTGTGCAGAAC	0.443		NaN											0	0	0	0.00245	0	15	93				
GPC1	2817	broad.mit.edu	37	2	241404929	241404929	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:241404929G>C	uc002vyw.3	+	8	1529	c.1308G>C	c.(1306-1308)CAG>CAC	p.Q436H		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	436					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGGCCAACCAGATCAACAACC	0.627		NaN											0	0	0	0.000248	0	4	42				
SEPT2	4735	broad.mit.edu	37	2	242285646	242285646	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242285646G>C	uc002wbc.2	+	11	1329	c.908G>C	c.(907-909)AGA>ACA	p.R303T	SEPT2_uc002wbd.2_Missense_Mutation_p.R303T|SEPT2_uc002wbf.2_Missense_Mutation_p.R303T|SEPT2_uc002wbg.2_Missense_Mutation_p.R303T|SEPT2_uc002wbh.2_Missense_Mutation_p.R313T|SEPT2_uc010zop.1_Missense_Mutation_p.R338T	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN	septin 2	303					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CGTTCTGAGAGACTCAAGAGA	0.517		NaN											0	0	0	0.008291	0	11	24				
PDCD1	5133	broad.mit.edu	37	2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242794494C>T	uc002wcq.3	-	3	516	c.448G>A	c.(448-450)GAA>AAA	p.E150K	PDCD1_uc010fzs.2_Intron|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	150	Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677		NaN											0	0	0	0.00499	0	15	25				
ANGPT4	51378	broad.mit.edu	37	20	854974	854974	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:854974G>C	uc002wei.2	-	8	1407	c.1304C>G	c.(1303-1305)TCA>TGA	p.S435*	ANGPT4_uc010zpn.1_Intron	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	435	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						GTCGTTGTCTGAGTCAAGGGT	0.612		NaN											0	0	0	0.005443	0	26	90				
NSFL1C	55968	broad.mit.edu	37	20	1447415	1447415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:1447415C>A	uc002wfc.2	-	1	1003	c.55G>T	c.(55-57)GAG>TAG	p.E19*	NSFL1C_uc002wfd.2_5'UTR|NSFL1C_uc002wfe.2_Nonsense_Mutation_p.E19*|NSFL1C_uc002wff.2_RNA	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	19						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						CGGTCCTCCTCGGCGCCCGTC	0.746		NaN											1	0	0.00024832	0.000248	0.000295521	3	8				
CPXM1	56265	broad.mit.edu	37	20	2776510	2776510	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:2776510C>A	uc002wgu.2	-	11	1519	c.1455G>T	c.(1453-1455)TGG>TGT	p.W485C	CPXM1_uc010gas.2_Missense_Mutation_p.W485C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	485					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						TCCGCTTCATCCACTTGATTA	0.637		NaN											1	0	1.96292e-10	0.001523	2.43673e-10	21	70				
ZNF133	7692	broad.mit.edu	37	20	18286394	18286394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:18286394C>T	uc010gcq.2	+	3	369	c.64C>T	c.(64-66)CAA>TAA	p.Q22*	ZNF133_uc010zrv.1_Nonsense_Mutation_p.Q25*|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Nonsense_Mutation_p.Q22*|ZNF133_uc010gcs.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Nonsense_Mutation_p.Q22*	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	22	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GAGCCCTGCTCAAAGGACTCT	0.512		NaN											0	0	0	0.002096	0	30	69				
C20orf26	26074	broad.mit.edu	37	20	20177312	20177312	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:20177312C>G	uc002wru.2	+	16	1765	c.1689C>G	c.(1687-1689)CTC>CTG	p.L563L	C20orf26_uc010zse.1_Silent_p.L543L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	563										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ACTTTGCCCTCAACCCCATTT	0.463		NaN											0	0	0	0.002836	0	34	97				
THBD	7056	broad.mit.edu	37	20	23028421	23028421	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:23028421C>T	uc002wss.2	-	1	1881	c.1721G>A	c.(1720-1722)AGA>AAA	p.R574K	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	574	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CGCTCAGAGTCTCTGCGGCGT	0.647		NaN											0	0	0	0.001168	0	6	8				
NCOA6	23054	broad.mit.edu	37	20	33370146	33370146	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33370146C>G	uc002xav.2	-	4	2584	c.13G>C	c.(13-15)GAC>CAC	p.D5H	NCOA6_uc002xaw.2_Missense_Mutation_p.D5H|NCOA6_uc010gew.1_Missense_Mutation_p.D5H	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	5	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TTTGGAAGGTCATCCAAAACC	0.368		NaN											0	0	0	0.001855	0	14	47				
PROCR	10544	broad.mit.edu	37	20	33762609	33762609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762609G>A	uc002xbt.2	+	2	359	c.175G>A	c.(175-177)GAA>AAA	p.E59K	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.E96K	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	59	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCACGTGCTGGAAGGCCCAGA	0.617		NaN											0	0	0	0.005443	0	27	75				
PROCR	10544	broad.mit.edu	37	20	33762683	33762683	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762683G>C	uc002xbt.2	+	2	433	c.249G>C	c.(247-249)CAG>CAC	p.Q83H	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.Q120H	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	83	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGCGCACGCAGAGTGGCCTGC	0.637		NaN											0	0	0	0.004482	0	9	14				
PROCR	10544	broad.mit.edu	37	20	33764071	33764071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33764071G>A	uc002xbt.2	+	3	607	c.423G>A	c.(421-423)GTG>GTA	p.V141V	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.V178V	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	141	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTCCTTTGTGAGTTTCCGGC	0.602		NaN											0	0	0	0.00874	0	39	120				
UQCC	55245	broad.mit.edu	37	20	33891806	33891806	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33891806G>A	uc002xcd.2	-	10	899	c.832C>T	c.(832-834)CTA>TTA	p.L278L	UQCC_uc010zuy.1_Silent_p.L179L|UQCC_uc010zuz.1_Silent_p.L123L|UQCC_uc010zva.1_Silent_p.L141L|UQCC_uc002xce.2_Silent_p.L251L|UQCC_uc002xcg.2_Silent_p.L144L|UQCC_uc010gfb.2_Silent_p.L252L|UQCC_uc010zvb.1_Silent_p.L210L|UQCC_uc002xcf.2_Silent_p.L166L|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.L91L	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	278						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTCTCCACTAGAGGGCGCCAG	0.607		NaN									OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	43	96				
CPNE1	8904	broad.mit.edu	37	20	34214245	34214245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34214245G>A	uc002xdf.2	-	18	1895	c.1532C>T	c.(1531-1533)TCA>TTA	p.S511L	CPNE1_uc002xdc.2_Missense_Mutation_p.S173L|CPNE1_uc010zvj.1_Missense_Mutation_p.S516L|CPNE1_uc002xde.2_Missense_Mutation_p.S487L|CPNE1_uc002xdg.2_Missense_Mutation_p.S455L|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S511L|CPNE1_uc002xdi.2_Missense_Mutation_p.S511L|CPNE1_uc002xdj.2_Missense_Mutation_p.S511L|CPNE1_uc002xdk.2_Missense_Mutation_p.S511L|CPNE1_uc002xdl.2_Missense_Mutation_p.S511L|CPNE1_uc002xdm.2_Missense_Mutation_p.S511L	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	511					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGAAGTATGAGACCAGTTG	0.622		NaN											0	0	0	0.002852	0	43	141				
EPB41L1	2036	broad.mit.edu	37	20	34776319	34776319	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34776319C>T	uc002xfb.2	+	9	1095	c.924C>T	c.(922-924)CTC>CTT	p.L308L	EPB41L1_uc002xeu.2_Silent_p.L246L|EPB41L1_uc010zvo.1_Silent_p.L308L|EPB41L1_uc002xev.2_Silent_p.L308L|EPB41L1_uc002xew.2_Silent_p.L211L|EPB41L1_uc002xex.2_Silent_p.L277L|EPB41L1_uc002xey.2_Silent_p.L235L|EPB41L1_uc002xez.2_Silent_p.L246L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	308	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ATGGCCTGCTCATCTACCGGG	0.562		NaN											0	0	0	0.005443	0	27	100				
CTNNBL1	56259	broad.mit.edu	37	20	36431360	36431360	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:36431360G>C	uc010zvw.1	+	12	1214	c.1123G>C	c.(1123-1125)GAC>CAC	p.D375H	CTNNBL1_uc002xhh.2_Missense_Mutation_p.D188H|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.D123H	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	375					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				TAAGTTTGTTGACATTCTTGG	0.483		NaN											0	0	0	0.003954	0	25	81				
DHX35	60625	broad.mit.edu	37	20	37662928	37662928	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662928G>C	uc002xjh.2	+	21	2046	c.2035G>C	c.(2035-2037)GAG>CAG	p.E679Q	DHX35_uc010zwa.1_Missense_Mutation_p.E524Q|DHX35_uc010zwb.1_Missense_Mutation_p.E524Q|DHX35_uc010zwc.1_Missense_Mutation_p.E648Q	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	679						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTGGCTGTTGGAGCTGGCTCC	0.448		NaN											0	0	0	0.005524	0	33	78				
DHX35	60625	broad.mit.edu	37	20	37662949	37662949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662949C>G	uc002xjh.2	+	21	2067	c.2056C>G	c.(2056-2058)CAA>GAA	p.Q686E	DHX35_uc010zwa.1_Missense_Mutation_p.Q531E|DHX35_uc010zwb.1_Missense_Mutation_p.Q531E|DHX35_uc010zwc.1_Missense_Mutation_p.Q655E	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	686						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				ACACTTTTATCAACAAGGAAC	0.448		NaN											0	0	0	0.005443	0	25	74				
ZHX3	23051	broad.mit.edu	37	20	39832342	39832342	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:39832342G>A	uc002xjs.1	-	3	1593	c.1215C>T	c.(1213-1215)CTC>CTT	p.L405L	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.L405L|ZHX3_uc002xjt.1_Silent_p.L405L|ZHX3_uc002xju.1_Silent_p.L405L|ZHX3_uc002xjv.1_Silent_p.L405L|ZHX3_uc002xjw.1_Silent_p.L405L|ZHX3_uc010ggg.1_Silent_p.L405L	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	405	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCCTGGATGAGATGCTGGA	0.542		NaN											0	0	0	0.003954	0	24	100				
C20orf111	51526	broad.mit.edu	37	20	42825868	42825868	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:42825868C>G	uc002xlk.2	-	4	840	c.703G>C	c.(703-705)GAG>CAG	p.E235Q		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	235											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTAGTCCTCAAGTGTGGAT	0.522		NaN											0	0	0	0.006214	0	10	60				
MMP9	4318	broad.mit.edu	37	20	44642135	44642135	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:44642135C>A	uc002xqz.2	+	9	1591	c.1572C>A	c.(1570-1572)ATC>ATA	p.I524I		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	524	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCGACGCCATCGCGGAGATTG	0.507		NaN									OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	4.3838e-07	0.001855	5.30031e-07	12	19				
ZMYND8	23613	broad.mit.edu	37	20	45850058	45850058	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:45850058C>A	uc002xta.1	-	20	3518	c.3264G>T	c.(3262-3264)GGG>GGT	p.G1088G	ZMYND8_uc010ghq.1_Silent_p.G719G|ZMYND8_uc010ghr.1_Silent_p.G990G|ZMYND8_uc002xst.1_Silent_p.G970G|ZMYND8_uc002xsu.1_Silent_p.G961G|ZMYND8_uc002xsv.1_Silent_p.G1016G|ZMYND8_uc002xsw.1_Silent_p.G794G|ZMYND8_uc002xsx.1_Silent_p.G794G|ZMYND8_uc002xsy.1_Silent_p.G1017G|ZMYND8_uc002xsz.1_Silent_p.G979G|ZMYND8_uc010zxy.1_Silent_p.G1115G|ZMYND8_uc002xtb.1_Silent_p.G1062G|ZMYND8_uc002xss.2_Silent_p.G1088G|ZMYND8_uc010zxz.1_Silent_p.G956G|ZMYND8_uc002xtc.1_Silent_p.G1062G|ZMYND8_uc002xtd.1_Silent_p.G1037G|ZMYND8_uc002xte.1_Silent_p.G1042G|ZMYND8_uc010zya.1_Silent_p.G1088G|ZMYND8_uc002xtf.1_Silent_p.G1108G|ZMYND8_uc002xsr.1_Silent_p.G187G	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1088							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGAGGAGCTCCCCTGGGAGG	0.547		NaN											1	0	3.6726e-16	0.003954	4.62286e-16	27	43				
NFATC2	4773	broad.mit.edu	37	20	50140246	50140246	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:50140246G>T	uc002xwd.2	-	2	754	c.534C>A	c.(532-534)TTC>TTA	p.F178L	NFATC2_uc002xwc.2_Missense_Mutation_p.F178L|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.F158L|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.F158L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	178	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TGTCAGAAATGAAGCTGGCAG	0.647		NaN											1	0	6.94344e-10	0.006122	8.58245e-10	18	57				
C20orf85	128602	broad.mit.edu	37	20	56728648	56728648	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:56728648G>C	uc002xyv.2	+	2	155	c.117G>C	c.(115-117)CAG>CAC	p.Q39H		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	39										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			ACTGGCCCCAGAACTGGGGGT	0.433		NaN											0	0	0	0.007291	0	28	91				
NPEPL1	79716	broad.mit.edu	37	20	57268911	57268911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:57268911C>T	uc010zzs.1	+	2	364	c.269C>T	c.(268-270)TCG>TTG	p.S90L	NPEPL1_uc010zzr.1_Missense_Mutation_p.S42L|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.S62L|NPEPL1_uc002xzp.2_5'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	90					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AACAGCCCCTCGGCCGCCCAC	0.682		NaN											0	0	0	0.008291	0	10	47				
DIDO1	11083	broad.mit.edu	37	20	61526493	61526493	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:61526493C>G	uc002ydr.1	-	9	2503	c.2239G>C	c.(2239-2241)GAG>CAG	p.E747Q	DIDO1_uc002yds.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydt.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydu.1_Missense_Mutation_p.E747Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	747	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAGATTTCCTCACGCAGAACA	0.413		NaN											0	0	0	0.00361	0	66	191				
PRIC285	85441	broad.mit.edu	37	20	62198551	62198551	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198551G>C	uc002yfm.2	-	7	3052	c.2160C>G	c.(2158-2160)CTC>CTG	p.L720L	PRIC285_uc002yfl.1_Silent_p.L151L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	720					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGCACAGGAAGAGGCGGTGCA	0.677		NaN											0	0	0	0.001368	0	12	49				
PRIC285	85441	broad.mit.edu	37	20	62198716	62198716	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198716G>C	uc002yfm.2	-	7	2887	c.1995C>G	c.(1993-1995)CTC>CTG	p.L665L	PRIC285_uc002yfl.1_Silent_p.L96L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	665					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCTCATCGATGAGAATGTGGG	0.706		NaN											0	0	0	0.004672	0	3	7				
PRIC285	85441	broad.mit.edu	37	20	62198913	62198913	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198913G>C	uc002yfm.2	-	7	2690	c.1798C>G	c.(1798-1800)CCT>GCT	p.P600A	PRIC285_uc002yfl.1_Missense_Mutation_p.P31A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	600					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			ACACGGAGAGGAGTGGCCTCG	0.667		NaN											0	0	0	0.000602	0	4	8				
TNFRSF6B	8771	broad.mit.edu	37	20	62329778	62329778	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62329778G>A	uc002yfy.2	+	7	1199	c.765G>A	c.(763-765)CTG>CTA	p.L255L	RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.L255L	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	255					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCTTGCAGCTGAAGCTGCGTC	0.746		NaN											0	0	0	0.006214	0	9	14				
ARFRP1	10139	broad.mit.edu	37	20	62331869	62331869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62331869C>T	uc002yga.2	-	7	1099	c.532G>A	c.(532-534)GAG>AAG	p.E178K	ARFRP1_uc002ygc.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	178					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TCGATGCCCTCGCGCACCCCT	0.701		NaN											0	0	0	0.006122	0	18	55				
NCAM2	4685	broad.mit.edu	37	21	22658708	22658708	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:22658708G>A	uc002yld.1	+	4	706	c.457G>A	c.(457-459)GAG>AAG	p.E153K	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.E178K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	153	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTATCATAATGAGGAAGTCAC	0.388		NaN											0	0	0	0.000978	0	9	63				
GRIK1	2897	broad.mit.edu	37	21	30927614	30927614	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:30927614T>C	uc002yno.1	-	16	2830	c.2366A>G	c.(2365-2367)TAC>TGC	p.Y789C	GRIK1_uc002ynn.2_Missense_Mutation_p.Y774C|GRIK1_uc011acs.1_Missense_Mutation_p.Y789C|GRIK1_uc011act.1_Missense_Mutation_p.Y650C	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	789	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTATCCCGGTAAGGAGAACC	0.403		NaN											0	0	0	0.006122	0	18	93				
TCP10L	140290	broad.mit.edu	37	21	33956596	33956596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:33956596C>G	uc002ypw.3	-	2	135	c.19G>C	c.(19-21)GAG>CAG	p.E7Q	C21orf59_uc002ypx.1_Intron|C21orf59_uc002ypy.1_Intron|C21orf59_uc002ypz.1_Intron	NM_144659	NP_653260	Q9NV44	CU077_HUMAN	T-complex 10A-2	Error:Variant_position_missing_in_Q9NV44_after_alignment											0						TCCCTGGCCTCGAGTTGACCT	0.647		NaN											0	0	0	0.00245	0	14	36				
ITSN1	6453	broad.mit.edu	37	21	35183344	35183344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:35183344G>A	uc002yta.1	+	21	2653	c.2385G>A	c.(2383-2385)TGG>TGA	p.W795*	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmg.2_Nonsense_Mutation_p.W753*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Nonsense_Mutation_p.W795*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.W674*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.W790*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.W753*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Nonsense_Mutation_p.W729*|ITSN1_uc002ytf.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	795	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						AGACAGGGTGGTTCCCTGCAA	0.483		NaN											0	0	0	0.008871	0	21	150				
CLDN14	23562	broad.mit.edu	37	21	37833718	37833718	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:37833718G>A	uc002yvk.1	-	2	418	c.276C>T	c.(274-276)GGC>GGT	p.G92G	CLDN14_uc002yvn.1_Silent_p.G92G|CLDN14_uc002yvo.1_Silent_p.G92G|CLDN14_uc002yvl.1_Silent_p.G92G|CLDN14_uc002yvm.1_Silent_p.G92G	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	92	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CGCAGGCTATGCCCGAGAGCA	0.662		NaN											0	0	0	0.004656	0	26	36				
RIPK4	54101	broad.mit.edu	37	21	43171292	43171292	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:43171292C>G	uc002yzn.1	-	3	636	c.588G>C	c.(586-588)AAG>AAC	p.K196N		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	196						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						AGAGCCGGCTCTTCTCCCTGA	0.602		NaN											0	0	0	0.001984	0	7	79				
TRPM2	7226	broad.mit.edu	37	21	45838307	45838307	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:45838307G>C	uc002zet.1	+	23	3543	c.3330G>C	c.(3328-3330)AAG>AAC	p.K1110N	TRPM2_uc002zeu.1_Missense_Mutation_p.K1110N|TRPM2_uc002zew.1_Missense_Mutation_p.K1110N|TRPM2_uc010gpt.1_Missense_Mutation_p.K1110N|TRPM2_uc002zex.1_Missense_Mutation_p.K896N|TRPM2_uc002zey.1_Missense_Mutation_p.K623N|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1110	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCCTGACAGAGAACAAGCTGG	0.642		NaN											0	0	0	0.00308	0	7	57				
CECR5	27440	broad.mit.edu	37	22	17624010	17624010	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:17624010C>T	uc002zmf.2	-	5	577	c.549G>A	c.(547-549)AGG>AGA	p.R183R	CECR5_uc002zmd.2_5'Flank|CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Silent_p.R46R|CECR5_uc002zmh.2_Silent_p.R153R	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	183							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGAAGTCATTCCTCGGGAGGG	0.567		NaN											0	0	0	0.004007	0	16	52				
CDC45	8318	broad.mit.edu	37	22	19495340	19495340	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:19495340G>C	uc002zpr.2	+	12	1084	c.1008G>C	c.(1006-1008)TTG>TTC	p.L336F	CDC45_uc011agz.1_Missense_Mutation_p.L331F|CDC45_uc011aha.1_Missense_Mutation_p.L368F|CDC45_uc002zps.2_Missense_Mutation_p.L336F|CDC45_uc002zpt.2_Missense_Mutation_p.L290F	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	336					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						ACATCTCCTTGAAGGAGAATT	0.443		NaN											0	0	0	0.00361	0	50	95				
RTN4R	65078	broad.mit.edu	37	22	20229926	20229926	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:20229926C>T	uc002zrv.2	-	2	931	c.730G>A	c.(730-732)GAG>AAG	p.E244K	RTN4R_uc002zru.2_Missense_Mutation_p.E16K	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	244	LRR 8.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GCCAGGGCCTCAGTGGGCAGC	0.642		NaN											0	0	0	0.008871	0	19	32				
SERPIND1	3053	broad.mit.edu	37	22	21138315	21138315	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:21138315G>A	uc002ztb.1	+	3	1012	c.945G>A	c.(943-945)CTG>CTA	p.L315L	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L343L	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	315					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACTTCCGGCTGAATGAGAGAG	0.493		NaN									OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	86	184				
MTMR3	8897	broad.mit.edu	37	22	30394779	30394779	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:30394779G>C	uc003agv.3	+	8	818	c.490G>C	c.(490-492)GAG>CAG	p.E164Q	MTMR3_uc003agu.3_Missense_Mutation_p.E164Q|MTMR3_uc003agw.3_Missense_Mutation_p.E164Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	164	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTAAAAACGAGGTGGAGAG	0.408		NaN											0	0	0	0.001168	0	6	21				
TCN2	6948	broad.mit.edu	37	22	31011378	31011378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:31011378G>C	uc003aip.1	+	5	829	c.671G>C	c.(670-672)AGA>ACA	p.R224T	TCN2_uc003aiq.1_Missense_Mutation_p.R220T|TCN2_uc003air.1_Missense_Mutation_p.R197T	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	224					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCCATCAGAACAGTGCGA	0.562		NaN											0	0	0	0.003271	0	34	78				
DEPDC5	9681	broad.mit.edu	37	22	32188758	32188758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32188758C>G	uc003als.2	+	12	864	c.722C>G	c.(721-723)TCA>TGA	p.S241*	DEPDC5_uc011als.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.S241*|DEPDC5_uc003alr.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alt.1_Nonsense_Mutation_p.S213*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	241					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						AACCGAGCCTCAATTCGACAG	0.363		NaN											0	0	0	0.005443	0	24	63				
SLC5A4	6527	broad.mit.edu	37	22	32627028	32627028	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32627028C>G	uc003ami.2	-	10	1058	c.1056G>C	c.(1054-1056)GTG>GTC	p.V352V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	352	Extracellular (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CACAGTGTTTCACGCATTCAG	0.493		NaN											0	0	0	0.00499	0	13	46				
MYH9	4627	broad.mit.edu	37	22	36745254	36745254	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:36745254G>C	uc003apg.2	-	2	259	c.28C>G	c.(28-30)CTC>GTC	p.L10V	MYH9_uc003api.1_Missense_Mutation_p.L10V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	10	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCCACATAGAGATACTTATCG	0.517		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.001855	0	13	42				
CARD10	29775	broad.mit.edu	37	22	37902202	37902202	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:37902202G>C	uc003asx.1	-	7	1383	c.1380C>G	c.(1378-1380)CTC>CTG	p.L460L	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.L174L|CARD10_uc003asy.1_Silent_p.L460L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	460					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CGCTCACCTTGAGGCAGGTGC	0.672		NaN											0	0	0	0.007413	0	14	30				
APOBEC3D	140564	broad.mit.edu	37	22	39378461	39378461	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39378461G>C	uc011aoe.1	+	1	57	c.3G>C	c.(1-3)ATG>ATC	p.M1I	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awo.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awp.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Missense_Mutation_p.M1I|APOBEC3D_uc011aof.1_Missense_Mutation_p.M1I	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	1					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					GGCTGAACATGAATCCACAGA	0.597		NaN											0	0	0	0.002445	0	30	19				
APOBEC3G	60489	broad.mit.edu	37	22	39483104	39483104	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39483104G>T	uc003awx.2	+	7	1455	c.1113G>T	c.(1111-1113)CTG>CTT	p.L371L	APOBEC3G_uc003awy.2_Silent_p.L304L	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	371					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					GCCAAGACCTGAGTGGGAGGC	0.483		NaN											1	0	6.07407e-21	0.007291	7.71311e-21	27	70				
TNRC6B	23112	broad.mit.edu	37	22	40661277	40661277	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:40661277C>G	uc011aor.1	+	5	1254	c.1043C>G	c.(1042-1044)TCA>TGA	p.S348*	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S348*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S152*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	348					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GAACAGCAGTCAAAGATGGAA	0.428		NaN											0	0	0	0.003954	0	24	64				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:44083357C>T	uc003bdy.1	-	11	1351	c.1136G>A	c.(1135-1137)AGA>AAA	p.R379K	EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308		NaN											0	0	0	0.006214	0	6	42				
CELSR1	9620	broad.mit.edu	37	22	46759985	46759985	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46759985C>T	uc003bhw.1	-	34	8943	c.8943G>A	c.(8941-8943)AAG>AAA	p.K2981K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2981	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAGGGCTCTTGACTGTGA	0.687		NaN											0	0	0	0.002299	0	22	50				
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46859643C>T	uc003bhw.1	-	2	4144	c.4144G>A	c.(4144-4146)GAG>AAG	p.E1382K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1382	Extracellular (Potential).|EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687		NaN											0	0	0	0.001168	0	5	15				
MLC1	23209	broad.mit.edu	37	22	50523236	50523236	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50523236C>T	uc003bjg.1	-	2	369	c.96G>A	c.(94-96)GCG>GCA	p.A32A	MLC1_uc011arl.1_Silent_p.A32A|MLC1_uc003bjh.1_Silent_p.A32A|MLC1_uc011arm.1_Silent_p.A32A|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Silent_p.A32A	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	32						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGCTCGGCTTCGCGTCTGGGG	0.637		NaN											0	0	0	0.001882	0	22	54				
TUBGCP6	85378	broad.mit.edu	37	22	50657502	50657502	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50657502C>G	uc003bkb.1	-	20	5133	c.4621G>C	c.(4621-4623)GAG>CAG	p.E1541Q	TUBGCP6_uc003bka.1_Missense_Mutation_p.E628Q|TUBGCP6_uc010har.1_Missense_Mutation_p.E1533Q|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1541					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCACCTTCTCAAAGAGCAGG	0.657		NaN											0	0	0	0.000602	0	4	47				
EDEM1	9695	broad.mit.edu	37	3	5246762	5246762	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:5246762G>C	uc003bqi.2	+	6	1185	c.1053G>C	c.(1051-1053)GTG>GTC	p.V351V	EDEM1_uc011asz.1_Silent_p.V129V|EDEM1_uc003bqh.2_Silent_p.V351V	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	351	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GCAATGTCGTGAACATTCAGA	0.517		NaN											0	0	0	0.00361	0	60	76				
C3orf24	115795	broad.mit.edu	37	3	10146088	10146088	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:10146088G>A	uc003buz.2	-	2	596	c.371C>T	c.(370-372)TCA>TTA	p.S124L	C3orf24_uc003bva.1_Missense_Mutation_p.S124L	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	hypothetical protein LOC115795	124											0				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GCAAAAGGCTGACTTGTCTGA	0.522		NaN											0	0	0	0.00278	0	23	173				
PPARG	5468	broad.mit.edu	37	3	12458253	12458253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:12458253C>G	uc003bwx.2	+	6	961	c.870C>G	c.(868-870)ATC>ATG	p.I290M	PPARG_uc003bwr.2_Missense_Mutation_p.I262M|PPARG_uc003bws.2_Missense_Mutation_p.I262M|PPARG_uc003bwu.2_Missense_Mutation_p.I262M|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	290					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGATAAAATCAAGTTCAAAC	0.473		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						0	0	0	0.00499	0	17	27				
ANKRD28	23243	broad.mit.edu	37	3	15762601	15762601	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:15762601G>C	uc003caj.1	-	8	870	c.727C>G	c.(727-729)CTT>GTT	p.L243V	ANKRD28_uc003cai.1_Missense_Mutation_p.L89V|ANKRD28_uc011avz.1_Missense_Mutation_p.L89V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.L273V|ANKRD28_uc003cam.2_Missense_Mutation_p.L276V	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	243	ANK 7.					nucleoplasm	protein binding			breast(1)	1						GCTACATGAAGAGGTGTATTT	0.328		NaN											0	0	0	0.00361	0	59	471				
TRANK1	9881	broad.mit.edu	37	3	36899292	36899292	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:36899292G>A	uc003cgj.2	-	3	441	c.139C>T	c.(139-141)CTG>TTG	p.L47L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	597					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GCCAAGAGCAGAGAGTCGTTC	0.532		NaN											0	0	0	0.002836	0	34	213				
LRRFIP2	9209	broad.mit.edu	37	3	37151043	37151043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:37151043G>A	uc003cgp.2	-	12	1007	c.584C>T	c.(583-585)TCT>TTT	p.S195F	LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	195	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CAGCAGACCAGAATTTGCAGT	0.438		NaN											0	0	0	0.00361	0	48	75				
SCN10A	6336	broad.mit.edu	37	3	38739903	38739903	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38739903G>T	uc003ciq.2	-	27	4808	c.4808C>A	c.(4807-4809)TCC>TAC	p.S1603Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1603	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCAGGCAGGGACATCATGAG	0.562		NaN											1	0	5.61819e-17	0.005443	7.09044e-17	27	124				
SCN10A	6336	broad.mit.edu	37	3	38743465	38743465	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38743465G>C	uc003ciq.2	-	26	4522	c.4522C>G	c.(4522-4524)CTG>GTG	p.L1508V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1508	IV.|Helical; Name=S2 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTTGCCCAGAATTTTCGTC	0.448		NaN											0	0	0	0.00245	0	14	94				
SCN11A	11280	broad.mit.edu	37	3	38962667	38962667	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38962667G>A	uc011ays.1	-	6	991	c.792C>T	c.(790-792)CTC>CTT	p.L264L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	264	Helical; Name=S5 of repeat I; (By similarity).|I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAGATGCTGAGGCAAAAGA	0.498		NaN											0	0	0	0.002836	0	34	252				
ENTPD3	956	broad.mit.edu	37	3	40457535	40457535	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:40457535G>C	uc003ckd.3	+	7	894	c.802G>C	c.(802-804)GAG>CAG	p.E268Q	ENTPD3_uc010hhy.2_Missense_Mutation_p.E268Q|uc003cke.3_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	268	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552		NaN											0	0	0	0.00499	0	18	36				
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:47619161C>T	uc003crp.3	-	2	531	c.355G>A	c.(355-357)GAT>AAT	p.D119N	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	119	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692		NaN											0	0	0	0.00499	0	16	82				
COL7A1	1294	broad.mit.edu	37	3	48612779	48612779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48612779C>T	uc003ctz.2	-	73	6174	c.6173G>A	c.(6172-6174)GGA>GAA	p.G2058E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2058	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCTCTCTCCTGGCCTTCC	0.697		NaN											0	0	0	0.007291	0	26	30				
CELSR3	1951	broad.mit.edu	37	3	48697852	48697852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48697852G>A	uc003cul.2	-	1	2497	c.2216C>T	c.(2215-2217)TCA>TTA	p.S739L	CELSR3_uc003cuf.1_Missense_Mutation_p.S809L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	739	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACACTGGCTGAGGCAGAGAG	0.567		NaN											0	0	0	0.007835	0	34	53				
CELSR3	1951	broad.mit.edu	37	3	48698805	48698805	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48698805C>G	uc003cul.2	-	1	1544	c.1263G>C	c.(1261-1263)GTG>GTC	p.V421V	CELSR3_uc003cuf.1_Silent_p.V491V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	421	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCTACTGTCACGGCCACCA	0.662		NaN											0	0	0	0.004289	0	36	53				
PRKAR2A	5576	broad.mit.edu	37	3	48820513	48820513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48820513G>T	uc010hki.1	-	5	689	c.448C>A	c.(448-450)CAA>AAA	p.Q150K	PRKAR2A_uc003cux.1_Missense_Mutation_p.Q150K|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Q150K	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	150	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TCGAGAACTTGAGAAAGCTGT	0.383		NaN											1	0	4.68919e-08	0.008291	5.70789e-08	10	67				
WDR6	11180	broad.mit.edu	37	3	49049462	49049462	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:49049462G>A	uc003cvj.2	+	2	723	c.585G>A	c.(583-585)CTG>CTA	p.L195L	WDR6_uc011bbx.1_Silent_p.L66L|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.L139L|WDR6_uc011bbz.1_Silent_p.L114L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	165	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGCCTGCCTGATTGGAGACG	0.567		NaN											0	0	0	0.001168	0	6	50				
SEMA3F	6405	broad.mit.edu	37	3	50211515	50211515	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50211515G>A	uc003cyj.2	+	4	502	c.304G>A	c.(304-306)GAG>AAG	p.E102K	SEMA3F_uc003cyk.2_Missense_Mutation_p.E102K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	102	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACAGCGCATCGAGGAATGCGT	0.627		NaN											0	0	0	0.004878	0	38	37				
HYAL2	8692	broad.mit.edu	37	3	50357236	50357236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50357236C>T	uc003czu.2	-	2	905	c.685G>A	c.(685-687)GAT>AAT	p.D229N	HYAL2_uc003czx.2_Missense_Mutation_p.D229N|HYAL2_uc003czv.2_Missense_Mutation_p.D229N|HYAL2_uc003czw.2_Missense_Mutation_p.D229N|HYAL2_uc010hlj.2_Missense_Mutation_p.D229N	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	229						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	ACCTCAACATCAGGGCAGCGG	0.612		NaN											0	0	0	0.004007	0	17	32				
NT5DC2	64943	broad.mit.edu	37	3	52558487	52558487	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52558487C>T	uc003deo.2	-	14	1986	c.1562G>A	c.(1561-1563)TGA>TAA	p.*521*	NT5DC2_uc003dem.2_Silent_p.*391*|NT5DC2_uc003den.2_Silent_p.*558*|NT5DC2_uc010hmi.2_Silent_p.*533*|NT5DC2_uc010hmj.2_Silent_p.*337*|STAB1_uc003dej.2_3'UTR|STAB1_uc003del.2_3'UTR	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	521							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AAGGTGCCCTCAGCGGATGTG	0.612		NaN											0	0	0	0.00361	0	98	110				
PBRM1	55193	broad.mit.edu	37	3	52643561	52643561	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52643561G>C	uc003des.2	-	16	2347	c.2335C>G	c.(2335-2337)CAA>GAA	p.Q779E	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q779E|PBRM1_uc003der.2_Missense_Mutation_p.Q747E|PBRM1_uc003det.2_Missense_Mutation_p.Q794E|PBRM1_uc003deu.2_Missense_Mutation_p.Q794E|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q779E|PBRM1_uc010hmk.1_Missense_Mutation_p.Q779E|PBRM1_uc003dey.2_Missense_Mutation_p.Q779E|PBRM1_uc003dez.1_Missense_Mutation_p.Q779E|PBRM1_uc003dfb.1_Missense_Mutation_p.Q692E|PBRM1_uc003dfa.1_Missense_Mutation_p.Q125E|PBRM1_uc003dfc.2_Missense_Mutation_p.Q146E	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	779					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Q779*(3)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAGCTCTTGAATCAGCAAA	0.448		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.003755	0	36	43				
PBRM1	55193	broad.mit.edu	37	3	52696218	52696218	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52696218C>T	uc003des.2	-	4	471	c.459G>A	c.(457-459)CAG>CAA	p.Q153Q	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.Q153Q|PBRM1_uc003der.2_Silent_p.Q153Q|PBRM1_uc003det.2_Silent_p.Q153Q|PBRM1_uc003deu.2_Silent_p.Q153Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.Q153Q|PBRM1_uc010hmk.1_Silent_p.Q153Q|PBRM1_uc003dey.2_Silent_p.Q153Q|PBRM1_uc003dez.1_Silent_p.Q153Q|PBRM1_uc003dfb.1_Silent_p.Q51Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	153					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTCCTTTCTGAACAAACT	0.418		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.001786	0	32	217				
CACNA1D	776	broad.mit.edu	37	3	53783406	53783406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:53783406C>T	uc003dgv.3	+	27	3589	c.3426C>T	c.(3424-3426)TTC>TTT	p.F1142F	CACNA1D_uc003dgu.3_Silent_p.F1162F|CACNA1D_uc003dgy.3_Silent_p.F1142F|CACNA1D_uc003dgw.3_Silent_p.F809F|CACNA1D_uc003dgx.1_Silent_p.F290F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1142	Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAGCTTTCTTCATGATGAACA	0.418		NaN											0	0	0	0.002096	0	33	44				
ERC2	26059	broad.mit.edu	37	3	55733504	55733504	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:55733504C>T	uc003dhr.1	-	16	3005	c.2749G>A	c.(2749-2751)GAT>AAT	p.D917N	ERC2_uc003dhq.1_RNA	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	917	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		tggtCATCATCATAGTTGTCT	0.383		NaN											0	0	0	0.00361	0	121	193				
MAGI1	9223	broad.mit.edu	37	3	65342307	65342307	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:65342307C>T	uc003dmn.2	-	23	4661	c.4135G>A	c.(4135-4137)GAG>AAG	p.E1379K	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1408					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCTCTGCTCCAGGAGTCTC	0.726		NaN											0	0	0	0.002299	0	22	58				
LRIG1	26018	broad.mit.edu	37	3	66434683	66434683	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66434683G>A	uc003dmx.2	-	14	1817	c.1803C>T	c.(1801-1803)TTC>TTT	p.F601F	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.F221F|LRIG1_uc003dmw.2_Silent_p.F267F|LRIG1_uc010hnz.2_Silent_p.F317F|LRIG1_uc010hoa.2_Silent_p.F625F	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	601	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGTTTTGGTGAATGATGGCA	0.547		NaN											0	0	0	0.00361	0	56	283				
LRIG1	26018	broad.mit.edu	37	3	66502041	66502041	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66502041C>T	uc003dmx.2	-	3	321	c.307G>A	c.(307-309)GAG>AAG	p.E103K	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.E103K	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	103	Extracellular (Potential).|LRR 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTGTCAACTCATTATTATTG	0.438		NaN											0	0	0	0.00361	0	51	68				
GXYLT2	727936	broad.mit.edu	37	3	73016856	73016856	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:73016856G>A	uc003dpg.2	+	6	1135	c.1135G>A	c.(1135-1137)GAA>AAA	p.E379K		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	379	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						AGCACTCTATGAAGCAATACG	0.493		NaN											0	0	0	0.008291	0	9	38				
CGGBP1	8545	broad.mit.edu	37	3	88104904	88104904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:88104904C>T	uc003dqs.2	-	4	735	c.223G>A	c.(223-225)GAA>AAA	p.E75K	CGGBP1_uc003dqt.2_Missense_Mutation_p.E75K|CGGBP1_uc003dqu.2_Missense_Mutation_p.E75K	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TTCTGCTCTTCAAATTCTGCC	0.453		NaN											0	0	0	0.003163	0	15	112				
TMEM45A	55076	broad.mit.edu	37	3	100277340	100277340	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100277340C>T	uc003dtz.1	+	4	808	c.495C>T	c.(493-495)CTC>CTT	p.L165L	TMEM45A_uc003dua.1_Silent_p.L181L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	165	Helical; (Potential).					integral to membrane				skin(2)|ovary(1)	3						TGACAGGCCTCGTTGCCTTCC	0.502		NaN											0	0	0	0.008361	0	32	178				
GPR128	84873	broad.mit.edu	37	3	100413798	100413798	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100413798G>A	uc003duc.2	+	16	2615	c.2347G>A	c.(2347-2349)GAG>AAG	p.E783K	GPR128_uc011bhc.1_Missense_Mutation_p.E484K|GPR128_uc003dud.2_Missense_Mutation_p.E306K	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	783	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						TCCGAGTACTGAGGAAATCAC	0.433		NaN											0	0	0	0.00499	0	18	69				
IMPG2	50939	broad.mit.edu	37	3	100961751	100961751	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100961751G>A	uc003duq.1	-	14	3006	c.2803C>T	c.(2803-2805)CTG>TTG	p.L935L	IMPG2_uc011bhe.1_Silent_p.L798L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	935	Extracellular (Potential).|SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TAGGGAACCAGCTACAATATA	0.403		NaN											0	0	0	0.003954	0	25	69				
PHLDB2	90102	broad.mit.edu	37	3	111667878	111667878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111667878G>A	uc010hqa.2	+	10	2998	c.2587G>A	c.(2587-2589)GAG>AAG	p.E863K	PHLDB2_uc003dyc.2_Missense_Mutation_p.E847K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E863K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyi.2_Intron	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	863						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TGTTGCCACTGAGCCTGCCAC	0.478		NaN											0	0	0	0.004007	0	16	39				
GCET2	257144	broad.mit.edu	37	3	111851948	111851948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111851948C>G	uc003dys.1	-	1	170	c.20G>C	c.(19-21)AGA>ACA	p.R7T	GCET2_uc003dyt.1_5'UTR	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN	germinal center expressed transcript 2 isoform	7						mitochondrion					0						CCTGTTTTCTCTCAGCAGAGA	0.502		NaN											0	0	0	0.002836	0	30	169				
BTLA	151888	broad.mit.edu	37	3	112185019	112185019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:112185019G>C	uc003dza.3	-	5	1009	c.806C>G	c.(805-807)TCA>TGA	p.S269*	BTLA_uc003dzb.3_Nonsense_Mutation_p.S221*	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	269	Cytoplasmic (Potential).				T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGCCAGTCTTGAGTTCGGTCC	0.418		NaN											0	0	0	0.004289	0	35	90				
KIAA2018	205717	broad.mit.edu	37	3	113378767	113378767	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:113378767G>C	uc003eam.2	-	7	2173	c.1762C>G	c.(1762-1764)CAG>GAG	p.Q588E	KIAA2018_uc003eal.2_Missense_Mutation_p.Q532E	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	588					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AAAGGATTCTGATTAGCAGCC	0.478		NaN											0	0	0	0.008871	0	21	102				
RABL3	285282	broad.mit.edu	37	3	120461334	120461334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:120461334C>T	uc003edx.2	-	1	51	c.21G>A	c.(19-21)GTG>GTA	p.V7V	GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	7	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)		CCAGTACCTTCACCCGATCCA	0.567		NaN											0	0	0	0.004482	0	9	76				
SLC15A2	6565	broad.mit.edu	37	3	121630438	121630438	+	Missense_Mutation	SNP	C	C	G	rs138471341		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:121630438C>G	uc003eep.2	+	4	506	c.353C>G	c.(352-354)TCC>TGC	p.S118C	SLC15A2_uc011bjn.1_Intron	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	118	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S118F(1)		skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATCTATCTCTCCTTGGTGTAT	0.418		NaN											0	0	0	0.00333	0	22	30				
SLC41A3	54946	broad.mit.edu	37	3	125735707	125735707	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:125735707G>C	uc003eij.2	-	7	983	c.757C>G	c.(757-759)CTG>GTG	p.L253V	SLC41A3_uc003eii.2_Missense_Mutation_p.L227V|SLC41A3_uc003eil.2_Missense_Mutation_p.L253V|SLC41A3_uc003eik.2_Missense_Mutation_p.L217V|SLC41A3_uc011bkh.1_Missense_Mutation_p.L136V|SLC41A3_uc010hsd.1_Missense_Mutation_p.L268V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	253	Helical; (Potential).					integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		AGCGGCGTCAGATACCGACTA	0.582		NaN											0	0	0	0.004672	0	3	41				
ZXDC	79364	broad.mit.edu	37	3	126193905	126193905	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:126193905G>C	uc003eiv.2	-	1	858	c.804C>G	c.(802-804)TTC>TTG	p.F268L	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.F268L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	268	C2H2-type 4.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		CCTCGCACTTGAACAGGCTCT	0.627		NaN											0	0	0	0.000248	0	3	13				
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129214429C>A	uc003emm.2	+	18	2393	c.2187C>A	c.(2185-2187)CTC>CTA	p.L729L	IFT122_uc003eml.2_Silent_p.L780L|IFT122_uc003emn.2_Silent_p.L670L|IFT122_uc003emo.2_Silent_p.L618L|IFT122_uc003emp.2_Silent_p.L579L|IFT122_uc010htc.2_Silent_p.L721L|IFT122_uc011bky.1_Silent_p.L520L|IFT122_uc003emq.2_Silent_p.L569L|IFT122_uc003emr.2_Silent_p.L481L|IFT122_uc011bla.1_Silent_p.L502L|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Silent_p.L110L|IFT122_uc011bkx.1_Silent_p.L569L|IFT122_uc010htd.1_Silent_p.L208L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	729					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						ACACCGACCTCTGCATGTTTG	0.527		NaN											1	0	2.27731e-05	0.001882	2.73277e-05	20	48				
IFT122	55764	broad.mit.edu	37	3	129231193	129231193	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129231193C>G	uc003emm.2	+	24	3131	c.2925C>G	c.(2923-2925)TTC>TTG	p.F975L	IFT122_uc003eml.2_Missense_Mutation_p.F1026L|IFT122_uc003emn.2_Missense_Mutation_p.F916L|IFT122_uc003emo.2_Missense_Mutation_p.F865L|IFT122_uc003emp.2_Missense_Mutation_p.F825L|IFT122_uc010htc.2_Missense_Mutation_p.F968L|IFT122_uc011bky.1_Missense_Mutation_p.F766L|IFT122_uc003emq.2_Missense_Mutation_p.F815L|IFT122_uc003emr.2_Missense_Mutation_p.F728L|IFT122_uc011bla.1_Missense_Mutation_p.F749L|IFT122_uc010hte.2_Missense_Mutation_p.F301L|IFT122_uc003ems.2_Missense_Mutation_p.F357L|IFT122_uc011bkx.1_Missense_Mutation_p.F816L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	975					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						AAACTCTTTTCAACATCTCCA	0.537		NaN											0	0	0	0.00361	0	45	201				
PLXND1	23129	broad.mit.edu	37	3	129290635	129290635	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129290635G>C	uc003emx.2	-	16	3230	c.3130C>G	c.(3130-3132)CCG>GCG	p.P1044A		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1044	Extracellular (Potential).|IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						ACAGGCACCGGAGCCGGCAGG	0.662		NaN											0	0	0	0.000602	0	5	27				
MSL2	55167	broad.mit.edu	37	3	135913868	135913868	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:135913868C>T	uc003eqx.1	-	1	821	c.88G>A	c.(88-90)GAG>AAG	p.E30K	MSL2_uc011bmb.1_5'Flank	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	30					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						CTGTTAATCTCAGTAAACGCC	0.493		NaN											0	0	0	0.00361	0	99	160				
ESYT3	83850	broad.mit.edu	37	3	138195290	138195290	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:138195290G>A	uc003esk.2	+	22	2806	c.2580G>A	c.(2578-2580)CTG>CTA	p.L860L		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	860	C2 3.					integral to membrane|plasma membrane					0						TTTAGGTACTGATTGACTTAT	0.353		NaN											0	0	0	0.001168	0	4	55				
MRPS22	56945	broad.mit.edu	37	3	139063001	139063001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139063001G>C	uc003etb.2	+	1	141	c.133G>C	c.(133-135)GAG>CAG	p.E45Q	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E45Q|MRPS22_uc003ete.2_5'Flank	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	45						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						TTGCTCTTTCGAGATGGGGCT	0.627		NaN											0	0	0	0.001168	0	6	23				
COPB2	9276	broad.mit.edu	37	3	139092111	139092111	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139092111C>T	uc003etf.3	-	9	1168	c.1038G>A	c.(1036-1038)AAG>AAA	p.K346K	COPB2_uc011bmv.1_Silent_p.K317K|COPB2_uc010hui.2_Silent_p.K317K	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	346					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TGCCCATATCCTTTACTGCCA	0.438		NaN											0	0	0	0.004482	0	7	104				
SPSB4	92369	broad.mit.edu	37	3	140785627	140785627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:140785627C>G	uc003ett.2	+	2	935	c.681C>G	c.(679-681)ATC>ATG	p.I227M	SPSB4_uc010hum.2_Missense_Mutation_p.I227M	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	227	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						TGCGCTACATCAACGGCCTTG	0.637		NaN											0	0	0	0.008871	0	14	37				
ATR	545	broad.mit.edu	37	3	142168301	142168301	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:142168301C>G	uc003eux.3	-	47	8027	c.7905G>C	c.(7903-7905)CAG>CAC	p.Q2635H	XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2635	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CAAGATACATCTGGCATAGTA	0.333		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.00245	0	12	72				
P2RY13	53829	broad.mit.edu	37	3	151046539	151046539	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151046539G>C	uc003eyv.2	-	2	326	c.305C>G	c.(304-306)TCT>TGT	p.S102C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	102	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTGTGAGTCAGAGAGGATTTT	0.468		NaN											0	0	0	0.001882	0	21	36				
IGSF10	285313	broad.mit.edu	37	3	151154669	151154669	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151154669G>A	uc011bod.1	-	6	7680	c.7680C>T	c.(7678-7680)ATC>ATT	p.I2560I	IGSF10_uc011bob.1_Silent_p.I587I|IGSF10_uc011boc.1_Silent_p.I539I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2560	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCCCATGTGATTTCTGGCT	0.522		NaN											0	0	0	0.00245	0	15	57				
MME	4311	broad.mit.edu	37	3	154834674	154834674	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:154834674G>A	uc010hvr.1	+	7	764	c.553G>A	c.(553-555)GAA>AAA	p.E185K	MME_uc003fab.1_Missense_Mutation_p.E185K|MME_uc003fac.1_Missense_Mutation_p.E185K|MME_uc003fad.1_Missense_Mutation_p.E185K|MME_uc003fae.1_Missense_Mutation_p.E185K	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	185	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTGGACAGCTGAAAAAGCTAT	0.284		NaN											0	0	0	0.001368	0	12	35				
GMPS	8833	broad.mit.edu	37	3	155633963	155633963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:155633963C>T	uc003faq.2	+	9	1529	c.1194C>T	c.(1192-1194)ATC>ATT	p.I398I	GMPS_uc011bom.1_Silent_p.I299I	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	398					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGAGCTCATCAGAAAGTTGA	0.393		NaN	T	MLL	AML								0	0	0	0.007835	0	36	84				
SI	6476	broad.mit.edu	37	3	164735823	164735823	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:164735823T>C	uc003fei.2	-	29	3517	c.3455A>G	c.(3454-3456)TAT>TGT	p.Y1152C		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1152	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCCATGTAATAGGGATGAAA	0.313		NaN								HNSCC(35;0.089)			0	0	0	0.004482	0	7	64				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.001523	0	20	57		Valid		
MCCC1	56922	broad.mit.edu	37	3	182763328	182763328	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182763328C>T	uc003fle.2	-	10	1093	c.956G>A	c.(955-957)GGG>GAG	p.G319E	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.G202E|MCCC1_uc003flg.2_Missense_Mutation_p.G210E|MCCC1_uc011bqp.1_Missense_Mutation_p.G272E|MCCC1_uc011bqq.1_Missense_Mutation_p.G210E	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	319	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTCCACAGTCCCTAAAAGGTA	0.363		NaN											0	0	0	0.001368	0	13	54				
MCF2L2	23101	broad.mit.edu	37	3	182923668	182923668	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182923668G>C	uc003fli.1	-	25	2970	c.2880C>G	c.(2878-2880)ATC>ATG	p.I960M		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	960					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTACCTTTGATATTATTTT	0.368		NaN											0	0	0	0.001368	0	10	21				
KLHL6	89857	broad.mit.edu	37	3	183225916	183225916	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183225916G>A	uc003flr.2	-	3	898	c.840C>T	c.(838-840)CTC>CTT	p.L280L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.L278L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	280										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACTGCCTGATGAGAGGATCTG	0.527		NaN											0	0	0	0.005443	0	28	66				
ECE2	9718	broad.mit.edu	37	3	183967544	183967544	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183967544G>T	uc003fni.3	+	1	100	c.62G>T	c.(61-63)CGC>CTC	p.R21L	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.R21L	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	21	Cytoplasmic (Potential).|Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGGTACCGCGAAGTCGAG	0.667		NaN									OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00307968	0.00308	0.00364399	8	56				
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:184870595G>C	uc003fpd.2	-	1	208	c.17C>G	c.(16-18)TCG>TGG	p.S6W		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	6											0						CGACGCCGGCGAGGCCGCCGC	0.716		NaN											0	0	0	0.000248	0	3	14				
DGKG	1608	broad.mit.edu	37	3	185879433	185879433	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:185879433T>C	uc003fqa.2	-	24	2773	c.2236A>G	c.(2236-2238)ATG>GTG	p.M746V	DGKG_uc003fqb.2_Missense_Mutation_p.M707V|DGKG_uc003fqc.2_Missense_Mutation_p.M721V|DGKG_uc011brx.1_Missense_Mutation_p.M687V	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	746					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACTTGCATTGGCAGCAGC	0.483		NaN											0	0	0	0.006214	0	8	65				
ACAP2	23527	broad.mit.edu	37	3	195102746	195102746	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:195102746C>A	uc003fun.3	-	3	358	c.117G>T	c.(115-117)GTG>GTT	p.V39V	ACAP2_uc003fuo.2_Silent_p.V39V	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	39	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TACAAAGTTTCACAAGCTGAA	0.338		NaN											1	0	1.15088e-07	0.004007	1.39853e-07	13	24				
IQCG	84223	broad.mit.edu	37	3	197652962	197652962	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652962C>T	uc003fyo.2	-	6	805	c.659G>A	c.(658-660)AGA>AAA	p.R220K	IQCG_uc003fyn.2_Missense_Mutation_p.R122K|IQCG_uc003fyp.2_Missense_Mutation_p.R220K|IQCG_uc003fyq.3_Missense_Mutation_p.R220K	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	220											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TATCTGTTTTCTTCCTTTTTC	0.244		NaN											0	0	0	0.002299	0	24	43				
IQCG	84223	broad.mit.edu	37	3	197652965	197652965	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652965C>T	uc003fyo.2	-	6	802	c.656G>A	c.(655-657)GGA>GAA	p.G219E	IQCG_uc003fyn.2_Missense_Mutation_p.G121E|IQCG_uc003fyp.2_Missense_Mutation_p.G219E|IQCG_uc003fyq.3_Missense_Mutation_p.G219E	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	219											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTGTTTTCTTCCTTTTTCCTC	0.234		NaN											0	0	0	0.008871	0	21	41				
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:1806119G>A	uc003gdr.3	+	9	1394	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	380	Helical; (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(15)|p.G380E(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00361	0	167	154		Valid		
ADRA2C	152	broad.mit.edu	37	4	3769370	3769370	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:3769370C>G	uc003ghm.2	+	1	1075	c.1037C>G	c.(1036-1038)TCG>TGG	p.S346W	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	346	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCCGCCTGTCGCGCGCCAGC	0.607		NaN											0	0	0	0.001168	0	5	2				
CLNK	116449	broad.mit.edu	37	4	10566338	10566338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:10566338G>A	uc003gmo.3	-	7	493	c.356C>T	c.(355-357)TCC>TTC	p.S119F	CLNK_uc003gmp.2_Missense_Mutation_p.S77F	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	119					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						CTGTCCAATGGAGATAGAGGT	0.453		NaN											0	0	0	0.002852	0	37	42				
PGM2	55276	broad.mit.edu	37	4	37839181	37839181	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:37839181C>T	uc011byb.1	+	4	460	c.387C>T	c.(385-387)ATC>ATT	p.I129I	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	129					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1						CCACATTTATCAGTCAGGGGA	0.458		NaN											0	0	0	0.00361	0	49	128				
SGCB	6443	broad.mit.edu	37	4	52894145	52894145	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:52894145C>G	uc003gzj.2	-	5	802	c.742G>C	c.(742-744)GAG>CAG	p.E248Q	SGCB_uc011bzp.1_Missense_Mutation_p.E178Q	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	248	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCTTTAACTCCATATTACCA	0.289		NaN											0	0	0	0.007413	0	18	90				
SRD5A3	79644	broad.mit.edu	37	4	56236183	56236183	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:56236183C>T	uc003hau.2	+	5	977	c.882C>T	c.(880-882)CTC>CTT	p.L294L	uc003hav.1_Intron|uc003haw.1_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	294	Cytoplasmic (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CTGCCTTTCTCAGCCACCAAT	0.423		NaN											0	0	0	0.004656	0	26	86				
LPHN3	23284	broad.mit.edu	37	4	62542622	62542622	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:62542622C>T	uc010ihh.2	+	3	521	c.348C>T	c.(346-348)TAC>TAT	p.Y116Y	LPHN3_uc003hcq.3_Silent_p.Y116Y|LPHN3_uc010ihg.1_Silent_p.Y184Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	116	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CCTATAAATACCTTGAAGTGC	0.398		NaN											0	0	0	0.001368	0	12	274				
SMR3A	26952	broad.mit.edu	37	4	71232530	71232530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:71232530G>A	uc003hfg.1	+	3	305	c.224G>A	c.(223-225)AGA>AAA	p.R75K	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	75	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCA	0.537		NaN											0	0	0	0.007291	0	27	173				
SHROOM3	57619	broad.mit.edu	37	4	77357273	77357273	+	Missense_Mutation	SNP	G	G	A	rs142735873		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77357273G>A	uc011cbx.1	+	1	1021	c.68G>A	c.(67-69)GGA>GAA	p.G23E		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	23					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCCACCAAGGGAAGGTACATT	0.473		NaN											0	0	0	0.00361	0	54	143				
SHROOM3	57619	broad.mit.edu	37	4	77651964	77651964	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77651964G>A	uc011cbx.1	+	4	1416	c.463G>A	c.(463-465)GAG>AAG	p.E155K	SHROOM3_uc011cbz.1_5'UTR|SHROOM3_uc003hkf.1_Missense_Mutation_p.E30K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	155					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CAGGCGCAGTGAGCCTGCAGG	0.562		NaN											0	0	0	0.00361	0	48	87				
SPARCL1	8404	broad.mit.edu	37	4	88401595	88401595	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88401595C>G	uc010ikm.2	-	10	2318	c.1746G>C	c.(1744-1746)AAG>AAC	p.K582N	SPARCL1_uc011cdc.1_Missense_Mutation_p.K457N|SPARCL1_uc003hqs.3_Missense_Mutation_p.K582N|SPARCL1_uc011cdd.1_Missense_Mutation_p.K457N	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	582					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTAGTTTTTCTTAAAGTCCC	0.423		NaN											0	0	0	0.001786	0	27	81				
PKD2	5311	broad.mit.edu	37	4	88996667	88996667	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88996667C>A	uc003hre.2	+	15	2794	c.2728C>A	c.(2728-2730)CGT>AGT	p.R910S	PKD2_uc011cdf.1_Missense_Mutation_p.R328S|PKD2_uc011cdg.1_Missense_Mutation_p.R236S|PKD2_uc011cdh.1_Missense_Mutation_p.R133S	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	910	Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACGGCTAGTACGTGAAGAGTT	0.507		NaN											1	0	2.61193e-14	0.001786	3.27344e-14	33	256				
FAM13A	10144	broad.mit.edu	37	4	89709016	89709016	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:89709016G>T	uc003hse.1	-	10	1367	c.1159C>A	c.(1159-1161)CAA>AAA	p.Q387K	FAM13A_uc003hsb.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsd.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsc.1_Missense_Mutation_p.Q47K|FAM13A_uc011cdq.1_Missense_Mutation_p.Q33K|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q201K|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	387					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TCTGAACTTTGACCTCCAGAG	0.463		NaN											1	0	1.05317e-09	0.00245	1.29843e-09	13	94				
TIGD2	166815	broad.mit.edu	37	4	90034378	90034378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:90034378G>C	uc003hsk.2	+	1	411	c.253G>C	c.(253-255)GAG>CAG	p.E85Q	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	85	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AGTTATGATAGAGTGGTTTAA	0.393		NaN											0	0	0	0.006122	0	15	65				
MTTP	4547	broad.mit.edu	37	4	100503108	100503108	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:100503108C>G	uc003hvc.3	+	3	364	c.108C>G	c.(106-108)CTC>CTG	p.L36L	MTTP_uc011cej.1_Silent_p.L63L|MTTP_uc003hvb.2_Silent_p.L36L	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	36	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGTACAAGCTCACGTACTCCA	0.458		NaN											0	0	0	0.00499	0	17	79				
CENPE	1062	broad.mit.edu	37	4	104079969	104079969	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:104079969C>T	uc003hxb.1	-	23	2766	c.2676G>A	c.(2674-2676)CTG>CTA	p.L892L	CENPE_uc003hxc.1_Silent_p.L867L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	892	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGTTCCTTCAGCTGTTCCA	0.348		NaN											0	0	0	0.001882	0	22	49				
KIAA1109	84162	broad.mit.edu	37	4	123270446	123270446	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:123270446G>T	uc003ieh.2	+	76	13459	c.13414G>T	c.(13414-13416)GAT>TAT	p.D4472Y	KIAA1109_uc003iem.2_Missense_Mutation_p.D828Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4472					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGGGACCATAGATGTCAATGC	0.368		NaN											1	0	2.4624e-09	0.008871	3.02032e-09	19	27				
PGRMC2	10424	broad.mit.edu	37	4	129193566	129193566	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193566C>G	uc003igg.2	-	2	530	c.525G>C	c.(523-525)TTG>TTC	p.L175F		NM_006320	NP_006311			progesterone receptor membrane component 2												0						GTACTGCATTCAAATCTGAGA	0.353		NaN											0	0	0	0.001984	0	5	39				
PGRMC2	10424	broad.mit.edu	37	4	129193594	129193594	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193594C>G	uc003igg.2	-	2	502	c.497G>C	c.(496-498)AGA>ACA	p.R166T		NM_006320	NP_006311			progesterone receptor membrane component 2												0						ATATTCATCTCTAAGTGCATC	0.373		NaN											0	0	0	0.001168	0	5	33				
MAML3	55534	broad.mit.edu	37	4	140641044	140641044	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:140641044C>G	uc003ihz.1	-	7	3587	c.2835G>C	c.(2833-2835)CAG>CAC	p.Q945H	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.Q413H	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	946	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					CCATAAGGCTCTGCAGCCTTG	0.567		NaN											0	0	0	0.002522	0	42	96				
TBC1D9	23158	broad.mit.edu	37	4	141555214	141555214	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:141555214G>C	uc010ioj.2	-	16	2906	c.2634C>G	c.(2632-2634)CTC>CTG	p.L878L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	878						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCAAGGAAAGAGAAGAGCAA	0.522		NaN											0	0	0	0.00308	0	8	32				
LRBA	987	broad.mit.edu	37	4	151511949	151511949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:151511949G>C	uc010ipj.2	-	40	6616	c.6142C>G	c.(6142-6144)CAG>GAG	p.Q2048E	LRBA_uc003ilt.3_Missense_Mutation_p.Q696E|LRBA_uc003ilu.3_Missense_Mutation_p.Q2037E	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2048						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TCTGAGTTCTGATTTCCTAAA	0.428		NaN											0	0	0	0.00874	0	40	45				
GUCY1A3	2982	broad.mit.edu	37	4	156632044	156632044	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:156632044G>C	uc003iov.2	+	7	1263	c.727G>C	c.(727-729)GAT>CAT	p.D243H	GUCY1A3_uc003iou.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D243H|GUCY1A3_uc003iow.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D242H|GUCY1A3_uc003iox.2_Missense_Mutation_p.D243H|GUCY1A3_uc003ioz.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqe.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D243H	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	243					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTCCATAATGATTGCAGCGA	0.502		NaN											0	0	0	0.002836	0	32	103				
RAPGEF2	9693	broad.mit.edu	37	4	160244633	160244633	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:160244633T>G	uc003iqg.3	+	5	840	c.530T>G	c.(529-531)CTC>CGC	p.L177R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	177	cNMP.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGTGATTCTCAATGGATCT	0.398		NaN											0	0	0	0.00333	0	22	46				
SC4MOL	6307	broad.mit.edu	37	4	166254535	166254535	+	Missense_Mutation	SNP	G	G	A	rs146748626	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166254535G>A	uc003ire.2	+	2	143	c.13G>A	c.(13-15)GAA>AAA	p.E5K	SC4MOL_uc010irb.2_Missense_Mutation_p.E5K|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	5					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	GGCAACAAATGAAAGTGTCAG	0.323		NaN											0	0	0	0.00333	0	21	56				
SC4MOL	6307	broad.mit.edu	37	4	166258996	166258996	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166258996A>T	uc003ire.2	+	3	441	c.311A>T	c.(310-312)AAT>ATT	p.N104I	SC4MOL_uc010irb.2_Missense_Mutation_p.N104I|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	104	Helical; (Potential).				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	CTTCTCTTTAATCACTTCTGT	0.353		NaN											0	0	0	0.001523	0	21	48				
SNX25	83891	broad.mit.edu	37	4	186244769	186244769	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186244769G>C	uc003ixh.2	+	9	1261	c.1072G>C	c.(1072-1074)GAA>CAA	p.E358Q	SNX25_uc010ish.2_Missense_Mutation_p.E129Q|SNX25_uc003ixi.2_5'UTR	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	358	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ACTTTACAAAGAAATTCAGCA	0.328		NaN											0	0	0	0.008871	0	20	31				
CCDC110	256309	broad.mit.edu	37	4	186392204	186392204	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186392204C>T	uc003ixu.3	-	2	87	c.11_splice	c.e2-1	p.E4_splice	CCDC110_uc003ixv.3_Splice_Site_p.E4_splice|CCDC110_uc011ckt.1_Splice_Site_p.E4_splice	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a							nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTGCTTTTCTGTAACAGAA	0.458		NaN											0	0	0	0.002222	0	42	74				
KLKB1	3818	broad.mit.edu	37	4	187173013	187173013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187173013C>G	uc003iyy.2	+	10	1213	c.1142C>G	c.(1141-1143)TCT>TGT	p.S381C	KLKB1_uc011clc.1_Missense_Mutation_p.S179C|KLKB1_uc011cld.1_Missense_Mutation_p.S343C	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	381					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGGGACAACTCTGGTGAGTAA	0.423		NaN											0	0	0	0.001523	0	20	109				
FAT1	2195	broad.mit.edu	37	4	187521209	187521209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187521209C>G	uc003izf.2	-	22	12134	c.11946G>C	c.(11944-11946)TTG>TTC	p.L3982F	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3982	Extracellular (Potential).|Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGCCCATTCAAATAAATGG	0.498		NaN								HNSCC(5;0.00058)			0	0	0	0.00361	0	60	114				
FAT1	2195	broad.mit.edu	37	4	187531098	187531098	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187531098C>T	uc003izf.2	-	15	10113	c.9925G>A	c.(9925-9927)GAT>AAT	p.D3309N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3309	Extracellular (Potential).|Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGCCTCCATCAGTGGCCTCT	0.443		NaN								HNSCC(5;0.00058)			0	0	0	0.008291	0	10	43				
PLEKHG4B	153478	broad.mit.edu	37	5	174135	174135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174135G>C	uc003jak.2	+	16	3306	c.3256G>C	c.(3256-3258)GCA>CCA	p.A1086P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1086	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATTCTCCAAGCAAGCTCGGC	0.582		NaN											0	0	0	0.004482	0	9	11				
PLEKHG4B	153478	broad.mit.edu	37	5	174155	174155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174155G>C	uc003jak.2	+	16	3326	c.3276G>C	c.(3274-3276)AAG>AAC	p.K1092N		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1092	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGTCAAGAGTGCATGGA	0.592		NaN											0	0	0	0.001168	0	6	7				
SLC6A3	6531	broad.mit.edu	37	5	1414876	1414876	+	Missense_Mutation	SNP	G	G	C	rs28363072		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:1414876G>C	uc003jck.2	-	8	1207	c.1086C>G	c.(1084-1086)TTC>TTG	p.F362L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	362	Helical; Name=7; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGAAGACGACGAAGCCGGAGG	0.617		NaN											0	0	0	0.00499	0	14	62				
KIAA0947	23379	broad.mit.edu	37	5	5464123	5464123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:5464123C>T	uc003jdm.3	+	13	4898	c.4676C>T	c.(4675-4677)TCA>TTA	p.S1559L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1559										ovary(1)|central_nervous_system(1)	2						TCAAAGATTTCAAACAAAGAT	0.373		NaN											0	0	0	0.00308	0	8	55				
NSUN2	54888	broad.mit.edu	37	5	6620355	6620355	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:6620355G>C	uc003jdu.2	-	7	744	c.679C>G	c.(679-681)CAA>GAA	p.Q227E	NSUN2_uc003jdt.2_Translation_Start_Site|NSUN2_uc011cmk.1_Missense_Mutation_p.Q192E|NSUN2_uc003jdv.2_Translation_Start_Site	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	227						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTCTTGGCTTGATGGACGAGC	0.522		NaN											0	0	0	0.00623	0	37	114				
ADCY2	108	broad.mit.edu	37	5	7789838	7789838	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7789838G>A	uc003jdz.1	+	20	2620	c.2553G>A	c.(2551-2553)CTG>CTA	p.L851L	ADCY2_uc011cmo.1_Silent_p.L671L|ADCY2_uc010itm.1_Silent_p.L47L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	851	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGAGAACCTGAACCGCGTGC	0.527		NaN											0	0	0	0.002096	0	33	83				
FASTKD3	79072	broad.mit.edu	37	5	7861360	7861360	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7861360C>G	uc003jeb.2	-	6	1923	c.1786G>C	c.(1786-1788)GAT>CAT	p.D596H	FASTKD3_uc011cmp.1_Missense_Mutation_p.D298H|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	596	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TTTGGACCATCAATACACAGT	0.279		NaN											0	0	0	0.00278	0	22	87				
DNAH5	1767	broad.mit.edu	37	5	13862845	13862845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:13862845G>A	uc003jfd.2	-	29	4650	c.4608C>T	c.(4606-4608)ATC>ATT	p.I1536I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1536	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCACCGCACTGATACAGATGT	0.413		NaN							Kartagener_syndrome				0	0	0	0.007291	0	26	96				
CDH10	1008	broad.mit.edu	37	5	24505321	24505321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:24505321G>C	uc003jgr.1	-	8	1625	c.1293C>G	c.(1291-1293)ATC>ATG	p.I431M	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	431	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		GAATGTTAAAGATTCTGTCAA	0.363		NaN								HNSCC(23;0.051)			0	0	0	0.006214	0	10	34				
PDZD2	23037	broad.mit.edu	37	5	32087406	32087406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:32087406C>T	uc003jhl.2	+	20	4240	c.3852C>T	c.(3850-3852)CTC>CTT	p.L1284L	PDZD2_uc003jhm.2_Silent_p.L1284L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1284					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAGTCAGGCTCCCCCATGAGG	0.622		NaN											0	0	0	0.004878	0	34	100				
NIPBL	25836	broad.mit.edu	37	5	37064931	37064931	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:37064931G>A	uc003jkl.3	+	47	8851	c.8352G>A	c.(8350-8352)CTG>CTA	p.L2784L	NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2784					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTAATAAGCTGACTAATAAAG	0.408		NaN											0	0	0	0.002299	0	23	61				
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:52371064G>A	uc003joy.2	+	23	2898	c.2755G>A	c.(2755-2757)GAA>AAA	p.E919K	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E843K|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	919	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348		NaN											0	0	0	0.003163	0	15	45				
GZMA	3001	broad.mit.edu	37	5	54398580	54398580	+	Missense_Mutation	SNP	G	G	C	rs142297007	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54398580G>C	uc003jpm.2	+	1	107	c.70G>C	c.(70-72)GAT>CAT	p.D24H		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	24					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AATTCCTGAAGGTAAGACTGA	0.408		NaN											0	0	0	0.001523	0	21	81				
DHX29	54505	broad.mit.edu	37	5	54567922	54567922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54567922C>G	uc003jpx.2	-	18	2977	c.2857G>C	c.(2857-2859)GAA>CAA	p.E953Q	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	953	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TACTTATTTTCTTTTGTTCTT	0.318		NaN											0	0	0	0.002522	0	45	31				
DHX29	54505	broad.mit.edu	37	5	54585110	54585110	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54585110C>T	uc003jpx.2	-	8	1174	c.1054G>A	c.(1054-1056)GAA>AAA	p.E352K	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	352							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTCTCTTCTTCAGTAGCAGCT	0.313		NaN											0	0	0	0.000978	0	11	86				
SLC38A9	153129	broad.mit.edu	37	5	54922343	54922343	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54922343C>G	uc003jqf.2	-	16	1866	c.1665G>C	c.(1663-1665)CTG>CTC	p.L555L	SLC38A9_uc003jqd.2_Silent_p.L492L|SLC38A9_uc010ivx.2_Silent_p.L492L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L426L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	555	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ACTGAACAATCAGGTTAGCCA	0.358		NaN											0	0	0	0.00361	0	85	90				
ERBB2IP	55914	broad.mit.edu	37	5	65349978	65349978	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:65349978C>T	uc003juk.1	+	21	3140	c.2832C>T	c.(2830-2832)TTC>TTT	p.F944F	ERBB2IP_uc003jui.1_Silent_p.F944F|ERBB2IP_uc003juj.1_Silent_p.F944F|ERBB2IP_uc011cqx.1_Silent_p.F944F|ERBB2IP_uc011cqy.1_Silent_p.F944F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.F940F|ERBB2IP_uc003jul.1_Silent_p.F940F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	944					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGGCAATTTTCAAGTTTGATT	0.403		NaN											0	0	0	0.008291	0	11	69				
BDP1	55814	broad.mit.edu	37	5	70751838	70751838	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70751838C>T	uc003kbp.1	+	1	397	c.134C>T	c.(133-135)TCC>TTC	p.S45F	BDP1_uc003kbn.1_Missense_Mutation_p.S45F|BDP1_uc003kbo.2_Missense_Mutation_p.S45F	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	45	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACTCTGCTTCCAAGCCCGCG	0.632		NaN											0	0	0	0.00245	0	12	34				
BDP1	55814	broad.mit.edu	37	5	70805391	70805391	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70805391G>T	uc003kbp.1	+	17	2735	c.2472G>T	c.(2470-2472)AGG>AGT	p.R824S	BDP1_uc003kbn.1_Missense_Mutation_p.R824S|BDP1_uc003kbo.2_Missense_Mutation_p.R824S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	824	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAACTGGAAGGAGAGAAATTT	0.413		NaN											1	0	6.72482e-11	0.003163	8.35526e-11	14	106				
HEXB	3074	broad.mit.edu	37	5	73981280	73981280	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:73981280G>A	uc003kdf.3	+	1	312	c.195G>A	c.(193-195)ATG>ATA	p.M65I	HEXB_uc003kdd.2_Intron|HEXB_uc003kde.2_Missense_Mutation_p.M65I|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	65					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGGTGAAGATGACCCCGAACC	0.697		NaN											0	0	0	0.008291	0	10	20				
SV2C	22987	broad.mit.edu	37	5	75621207	75621207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:75621207C>G	uc003kei.1	+	13	2153	c.2019C>G	c.(2017-2019)TTC>TTG	p.F673L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	673	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTTTGGCTTCTTAAATGCGC	0.463		NaN											0	0	0	0.00632	0	26	71				
ZCCHC9	84240	broad.mit.edu	37	5	80604427	80604427	+	Silent	SNP	C	C	T	rs149561750	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:80604427C>T	uc003khj.2	+	3	565	c.432C>T	c.(430-432)CCC>CCT	p.P144P	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P144P|ZCCHC9_uc003khi.2_Silent_p.P144P	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	144	CCHC-type 1.						nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CAGATTGCCCCGCCGCCCTTG	0.473		NaN											0	0	0	0.001523	0	20	51				
VCAN	1462	broad.mit.edu	37	5	82850806	82850806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:82850806C>T	uc003kii.3	+	12	10040	c.9684C>T	c.(9682-9684)CTC>CTT	p.L3228L	VCAN_uc003kij.3_Silent_p.L2241L|VCAN_uc010jau.2_Silent_p.L1474L|VCAN_uc003kik.3_Silent_p.L487L|VCAN_uc003kil.3_Silent_p.L1892L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3228	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGATAGGCCTCAATGACAAGA	0.403		NaN											0	0	0	0.00333	0	23	62				
RASA1	5921	broad.mit.edu	37	5	86564633	86564633	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:86564633C>T	uc003kiw.2	+	1	483	c.365C>T	c.(364-366)TCG>TTG	p.S122L	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.S122L	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	122					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCACTTCGTTGCTTGCT	0.473		NaN											0	0	0	0.004482	0	6	27				
FBXL17	64839	broad.mit.edu	37	5	107521822	107521822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:107521822C>T	uc011cvc.1	-	6	2148	c.1741G>A	c.(1741-1743)GAC>AAC	p.D581N	FBXL17_uc003kon.3_Missense_Mutation_p.D183N	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	581											0		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTTACCTGTCATTTATGATC	0.313		NaN											0	0	0	0.001984	0	6	45				
ZNF608	57507	broad.mit.edu	37	5	123983433	123983433	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:123983433C>T	uc003ktq.1	-	4	2767	c.2644G>A	c.(2644-2646)GAG>AAG	p.E882K	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.E882K|ZNF608_uc003ktt.1_Missense_Mutation_p.E882K	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	882						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTATCGGCCTCAGCTTTGATA	0.527		NaN											0	0	0	0.00245	0	14	87				
C5orf56	441108	broad.mit.edu	37	5	131796262	131796262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:131796262C>G	uc003kwy.1	+	4	228	c.97C>G	c.(97-99)CAA>GAA	p.Q33E	C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron	NM_001013717	NP_001013739	Q8N8D9	CE056_HUMAN	hypothetical protein LOC441108	33											0						agggaatcttcaaactcttct	0.02		NaN											0	0	0	0.003755	0	33	254				
SKP1	6500	broad.mit.edu	37	5	133502935	133502935	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:133502935C>T	uc003kzc.3	-	3	277	c.98_splice	c.e3-1	p.D33_splice	SKP1_uc003kzd.3_Splice_Site_p.D33_splice|SKP1_uc010jdv.2_Splice_Site_p.D33_splice	NM_170679	NP_733779	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1 isoform b						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCAAATCTAAGAAAACC	0.299		NaN											0	0	0	0.000978	0	12	69				
HSPA9	3313	broad.mit.edu	37	5	137902369	137902369	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:137902369C>G	uc003ldf.2	-	9	1026	c.918G>C	c.(916-918)CAG>CAC	p.Q306H	HSPA9_uc011cyw.1_Missense_Mutation_p.Q237H	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	306					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438		NaN											0	0	0	0.004656	0	22	185				
SLC35A4	113829	broad.mit.edu	37	5	139947635	139947635	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:139947635C>T	uc003lgg.1	+	3	1609	c.881C>T	c.(880-882)TCA>TTA	p.S294L	SLC35A4_uc003lgh.1_Missense_Mutation_p.S294L	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	294	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGCTCTCAGCAGTCCTG	0.592		NaN											0	0	0	0.007413	0	19	49				
PCDHA5	56143	broad.mit.edu	37	5	140202747	140202747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140202747G>A	uc003lhl.2	+	1	1387	c.1387G>A	c.(1387-1389)GTG>ATG	p.V463M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V463M|PCDHA5_uc003lhj.1_Missense_Mutation_p.V463M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	463	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTGTTCGTGAAGGAGAA	0.662		NaN											0	0	0	0.00632	0	28	94				
PCDHA6	56142	broad.mit.edu	37	5	140209836	140209836	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140209836G>A	uc003lho.2	+	1	2187	c.2160G>A	c.(2158-2160)GCG>GCA	p.A720A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.A720A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	720	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACAGCGCTGCGGTGCT	0.677		NaN											0	0	0	0.000978	0	12	79				
PCDHA8	56140	broad.mit.edu	37	5	140222611	140222611	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140222611C>G	uc003lhs.2	+	1	1705	c.1705C>G	c.(1705-1707)CGG>GGG	p.R569G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R569G	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	569	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAGCCTCGGGTGGGTGG	0.721		NaN											0	0	0	0.005524	0	36	76				
PCDHA9	9752	broad.mit.edu	37	5	140228108	140228108	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140228108G>C	uc003lhu.2	+	1	752	c.28G>C	c.(28-30)GAG>CAG	p.E10Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.E10Q	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	10					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGATCCAGAGGGTCAGCC	0.493		NaN											0	0	0	0.00361	0	50	113				
PCDHA10	56139	broad.mit.edu	37	5	140236081	140236081	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140236081C>G	uc003lhx.2	+	1	448	c.448C>G	c.(448-450)CGA>GGA	p.R150G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R150G|PCDHA10_uc011dad.1_Missense_Mutation_p.R150G	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	150	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGATTTCCACT	0.438		NaN											0	0	0	0.00361	0	66	130				
PCDHB6	56130	broad.mit.edu	37	5	140530815	140530815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140530815C>T	uc003lir.2	+	1	977	c.977C>T	c.(976-978)TCA>TTA	p.S326L	PCDHB6_uc011dah.1_Missense_Mutation_p.S190L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	326	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCAGGAAAATGC	0.468		NaN											0	0	0	0.004007	0	17	48				
PCDHB7	56129	broad.mit.edu	37	5	140554506	140554506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140554506C>T	uc003lit.2	+	1	2264	c.2090C>T	c.(2089-2091)TCG>TTG	p.S697L	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.706		NaN											0	0	0	0.003755	0	35	375				
PCDHB11	56125	broad.mit.edu	37	5	140580555	140580555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140580555T>A	uc003liy.2	+	1	1208	c.1208T>A	c.(1207-1209)TTG>TAG	p.L403*	PCDHB11_uc011daj.1_Nonsense_Mutation_p.L38*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	403	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTACACGTTGGAAACAGAG	0.478		NaN											0	0	0	0.001882	0	20	114				
PCDHB13	56123	broad.mit.edu	37	5	140596055	140596055	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140596055C>G	uc003lja.1	+	1	2547	c.2360C>G	c.(2359-2361)TCT>TGT	p.S787C		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	787	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGAAATTCTACCTTCCCC	0.428		NaN											0	0	0	0.003163	0	14	76				
PCDHGA3	56112	broad.mit.edu	37	5	140724723	140724723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140724723G>C	uc003ljm.1	+	1	1123	c.1123G>C	c.(1123-1125)GAT>CAT	p.D375H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.D135H|PCDHGA3_uc011dap.1_Missense_Mutation_p.D375H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	375	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGACCGAGATTCTGGGCA	0.448		NaN											0	0	0	0.00333	0	23	99				
PCDHGB3	56102	broad.mit.edu	37	5	140750497	140750497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140750497C>G	uc003ljw.1	+	1	536	c.536C>G	c.(535-537)TCT>TGT	p.S179C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.S179C	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	179	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCACTTCTCTTTGATTCAG	0.542		NaN											0	0	0	0.00361	0	92	170				
PCDHGB4	8641	broad.mit.edu	37	5	140769071	140769071	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140769071C>G	uc003lkc.1	+	1	1620	c.1620C>G	c.(1618-1620)CTC>CTG	p.L540L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.L540L	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	540	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAGCGCTCAGCGCGAACG	0.701		NaN											0	0	0	0.001984	0	7	50				
PCDHGB6	56100	broad.mit.edu	37	5	140788139	140788139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140788139G>A	uc003lkj.1	+	1	370	c.370G>A	c.(370-372)GAG>AAG	p.E124K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.E124K	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	124	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGATTGAGGATGTTAA	0.398		NaN											0	0	0	0.00361	0	47	88				
ARAP3	64411	broad.mit.edu	37	5	141041670	141041670	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:141041670G>A	uc003llm.2	-	20	3031	c.2953C>T	c.(2953-2955)CGT>TGT	p.R985C	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R647C|ARAP3_uc003lln.2_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	985	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TCGAGCTCACGAAAGAAGCGT	0.592		NaN											0	0	0	0.003954	0	22	103				
GRXCR2	643226	broad.mit.edu	37	5	145252372	145252372	+	Silent	SNP	G	G	A	rs150272088	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:145252372G>A	uc003lns.1	-	1	160	c.160C>T	c.(160-162)CTG>TTG	p.L54L		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	54											0						GACTCTTGCAGAAAACTGTGA	0.493		NaN											0	0	0	0.005524	0	40	92				
RBM27	54439	broad.mit.edu	37	5	145641356	145641356	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:145641356G>A	uc003lnz.3	+	13	2343	c.2177G>A	c.(2176-2178)GGA>GAA	p.G726E	RBM27_uc003lny.2_Missense_Mutation_p.G671E	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	726					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTGCACGGAGGTATCCAG	0.478		NaN											0	0	0	0.000978	0	11	39				
ARHGEF37	389337	broad.mit.edu	37	5	149006694	149006694	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149006694C>G	uc003lra.1	+	11	1584	c.1520C>G	c.(1519-1521)CCT>CGT	p.P507R		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	507	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						AGGTATGGCCCTGGGAAGCTG	0.577		NaN											0	0	0	0.003954	0	25	146				
TCOF1	6949	broad.mit.edu	37	5	149748414	149748414	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149748414G>A	uc003lry.2	+	5	622	c.514G>A	c.(514-516)GAA>AAA	p.E172K	TCOF1_uc003lrw.2_Missense_Mutation_p.E172K|TCOF1_uc011dch.1_Missense_Mutation_p.E172K|TCOF1_uc003lrz.2_Missense_Mutation_p.E172K|TCOF1_uc003lrx.2_Missense_Mutation_p.E172K|TCOF1_uc003lsa.2_Missense_Mutation_p.E172K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	172					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGGTCTCAGAAACTGAGGA	0.582		NaN											0	0	0	0.001882	0	21	54				
LARP1	23367	broad.mit.edu	37	5	154173531	154173531	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154173531G>T	uc003lvp.2	+	6	1469	c.1040G>T	c.(1039-1041)GGC>GTC	p.G347V	LARP1_uc003lvo.2_Missense_Mutation_p.G270V|LARP1_uc010jie.1_Missense_Mutation_p.G142V	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	347							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGGTCGCGGCCGGGGACGC	0.692		NaN											1	0	3.59834e-05	0.001168	4.30724e-05	6	80				
KIF4B	285643	broad.mit.edu	37	5	154393975	154393975	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154393975G>T	uc010jih.1	+	1	716	c.556G>T	c.(556-558)GAT>TAT	p.D186Y		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	186	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTGCCTTGGATACTGTTTC	0.468		NaN											1	0	0.00621372	0.006214	0.00734024	10	224				
TIMD4	91937	broad.mit.edu	37	5	156353320	156353320	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:156353320G>C	uc003lwh.2	-	6	905	c.848C>G	c.(847-849)TCT>TGT	p.S283C	TIMD4_uc010jii.2_Missense_Mutation_p.S255C|TIMD4_uc003lwg.2_Translation_Start_Site	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	283	Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGTATCAGATGCTGGGAA	0.358		NaN											0	0	0	0.008291	0	9	31				
GABRA6	2559	broad.mit.edu	37	5	161116300	161116300	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:161116300T>G	uc003lyu.2	+	5	825	c.487T>G	c.(487-489)TTT>GTT	p.F163V	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	163	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTGGTTAACTTTCCTATGGA	0.398		NaN								TCGA Ovarian(5;0.080)			0	0	0	0.004656	0	23	89				
SLIT3	6586	broad.mit.edu	37	5	168119694	168119694	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:168119694C>T	uc003mab.2	-	29	3514	c.3094G>A	c.(3094-3096)GAC>AAC	p.D1032N	SLIT3_uc010jjg.2_Missense_Mutation_p.D1039N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1032	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCACCTCGTCGCATAGCTCA	0.577		NaN											0	0	0	0.004007	0	15	36				
NSD1	64324	broad.mit.edu	37	5	176637917	176637917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176637917G>A	uc003mfr.3	+	5	2655	c.2517G>A	c.(2515-2517)CTG>CTA	p.L839L	NSD1_uc003mft.3_Silent_p.L570L|NSD1_uc003mfs.1_Silent_p.L736L|NSD1_uc011dfx.1_Silent_p.L487L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	839					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAAAACTACTGAACAATATGC	0.408		NaN	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			0	0	0	0.004007	0	16	52				
PFN3	345456	broad.mit.edu	37	5	176827416	176827416	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176827416C>T	uc003mgl.2	-	1	222	c.162G>A	c.(160-162)CCG>CCA	p.P54P		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	54					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGCCTGTCCGGCCCCGTGA	0.746		NaN											0	0	0	0.000248	0	4	5				
COL23A1	91522	broad.mit.edu	37	5	177690292	177690292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:177690292G>C	uc003mje.2	-	9	914	c.556C>G	c.(556-558)CCG>GCG	p.P186A	COL23A1_uc010jkt.2_Silent_p.L33L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	186	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGGCCCCGGAGGCCCAGCA	0.672		NaN											0	0	0	0.001855	0	11	21				
RNF130	55819	broad.mit.edu	37	5	179390562	179390562	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179390562C>T	uc003mll.1	-	8	1560	c.1153G>A	c.(1153-1155)GAA>AAA	p.E385K	RNF130_uc003mlm.1_Intron	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	385	Cytoplasmic (Potential).				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAACCATTCTTCTGTTGAC	0.448		NaN											0	0	0	0.008291	0	8	11				
GFPT2	9945	broad.mit.edu	37	5	179745840	179745840	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179745840G>C	uc003mlw.1	-	10	1009	c.911C>G	c.(910-912)TCT>TGT	p.S304C		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	304					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATGGCTCGAGATGGGTCATC	0.607		NaN											0	0	0	0.00245	0	14	37				
FLT4	2324	broad.mit.edu	37	5	180041111	180041111	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:180041111G>A	uc003mma.3	-	24	3367	c.3288C>T	c.(3286-3288)GAC>GAT	p.D1096D	FLT4_uc003mlz.3_Silent_p.D1096D	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1096	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGACCACACGTCACTCTGCG	0.622		NaN							Congenital_Hereditary_Lymphedema				0	0	0	0.003755	0	33	51				
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7229506C>T	uc003mxc.2	+	10	1564	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*	RREB1_uc003mxb.2_Nonsense_Mutation_p.Q392*|RREB1_uc010jnx.2_Nonsense_Mutation_p.Q392*	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	392					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622		NaN											0	0	0	0.00308	0	8	38				
DSP	1832	broad.mit.edu	37	6	7583844	7583844	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7583844G>C	uc003mxp.1	+	24	6628	c.6349G>C	c.(6349-6351)GAT>CAT	p.D2117H	DSP_uc003mxq.1_Missense_Mutation_p.D1518H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2117	Globular 2.|Plectin 3.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATTTGATTGATAGAGAAAC	0.443		NaN											0	0	0	0.00632	0	27	109				
NEDD9	4739	broad.mit.edu	37	6	11190647	11190647	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:11190647C>T	uc003mzv.2	-	5	1622	c.1455G>A	c.(1453-1455)ATG>ATA	p.M485I	NEDD9_uc010joz.2_Missense_Mutation_p.M485I|NEDD9_uc003mzw.3_Missense_Mutation_p.M339I	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	485					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCTCCCGCTTCATCTTGTTGT	0.522		NaN											0	0	0	0.001368	0	12	38				
SIRT5	23408	broad.mit.edu	37	6	13592071	13592071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:13592071G>A	uc003nay.2	+	5	716	c.420G>A	c.(418-420)CAG>CAA	p.Q140Q	SIRT5_uc003naw.2_Silent_p.Q140Q|SIRT5_uc003nax.2_Silent_p.Q32Q|SIRT5_uc011dit.1_Silent_p.Q140Q	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	140	NAD.|Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TCATCACCCAGAACATCGATG	0.617		NaN											0	0	0	0.001855	0	12	46				
HIST1H2BE	8344	broad.mit.edu	37	6	26184038	26184038	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:26184038G>A	uc003ngt.2	+	1	15	c.15G>A	c.(13-15)GCG>GCA	p.A5A		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	5				A -> S (in Ref. 2; CAB02545).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CTGAGCCAGCGAAATCCGCTC	0.512		NaN											0	0	0	0.007291	0	29	73				
HIST1H2AG	8969	broad.mit.edu	37	6	27101075	27101075	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:27101075G>C	uc003niw.2	+	1	259	c.225G>C	c.(223-225)AAG>AAC	p.K75N	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	75					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GCGACAACAAGAAGACCCGCA	0.662		NaN											0	0	0	0.00499	0	16	91				
ZNF311	282890	broad.mit.edu	37	6	28966565	28966565	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:28966565C>G	uc003nlu.2	-	6	874	c.361G>C	c.(361-363)GAC>CAC	p.D121H	ZNF311_uc011dlk.1_Missense_Mutation_p.D29H|ZNF311_uc003nlv.2_Missense_Mutation_p.D29H	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACACAGGGGTCTACTTCTCGC	0.448		NaN											0	0	0	0.000978	0	10	68				
OR11A1	26531	broad.mit.edu	37	6	29394644	29394644	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29394644A>G	uc003nmg.2	-	1	866	c.775T>C	c.(775-777)TTT>CTT	p.F259L		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	259	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCAACATAAAAGATCATGAGC	0.522		NaN											0	0	0	0.003163	0	15	89				
HLA-F	3134	broad.mit.edu	37	6	29694183	29694183	+	Nonstop_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29694183G>T	uc010jrl.2	+	7	1164	c.1040G>T	c.(1039-1041)TGA>TTA	p.*347L	HLA-F_uc003nnm.3_Nonstop_Mutation_p.*255L|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	347					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TCTATAGTGTGAGACAGCTTC	0.353		NaN											1	0	9.70103e-10	0.008291	1.19807e-09	9	47				
ABCF1	23	broad.mit.edu	37	6	30552094	30552094	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:30552094G>A	uc003nql.2	+	13	1323	c.1228G>A	c.(1228-1230)GAG>AAG	p.E410K	ABCF1_uc003nqk.2_Missense_Mutation_p.E411K|ABCF1_uc003nqm.2_Missense_Mutation_p.E372K|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	410	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CACAGCTGCTGAGAGGCTAGA	0.597		NaN											0	0	0	0.001523	0	19	65				
BAT4	7918	broad.mit.edu	37	6	31631705	31631705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31631705G>A	uc003nvn.2	-	2	1196	c.551C>T	c.(550-552)GCT>GTT	p.A184V	BAT4_uc003nvo.3_Missense_Mutation_p.A184V|BAT4_uc003nvp.3_Missense_Mutation_p.A184V|BAT4_uc003nvq.2_Missense_Mutation_p.A184V|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	184						intracellular	nucleic acid binding				0						AGCTTCTTCAGCGAGCTGAGC	0.642		NaN											0	0	0	0.007413	0	19	40				
LY6G6F	259215	broad.mit.edu	37	6	31685395	31685395	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31685395C>G	uc003nwb.1	+	6	963	c.963C>G	c.(961-963)GTC>GTG	p.V321V	LY6G6D_uc003nwf.1_Silent_p.V72V|LY6G6D_uc003nwg.1_Silent_p.V51V	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	Error:Variant_position_missing_in_Q5SQ64_after_alignment						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						CAGCCTGCGTCGCAGCCCATC	0.577		NaN											0	0	0	0.00361	0	74	195				
MSH5	4439	broad.mit.edu	37	6	31711763	31711763	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31711763C>G	uc003nwv.1	+	6	577	c.498C>G	c.(496-498)CTC>CTG	p.L166L	MSH5_uc003nwt.1_Silent_p.L166L|MSH5_uc003nwu.1_Silent_p.L166L|MSH5_uc003nww.1_Silent_p.L166L|MSH5_uc003nwx.1_Silent_p.L166L|MSH5_uc011dof.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	166					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						AGAAAATCCTCTTCCTCTCTT	0.517		NaN						Direct_reversal_of_damage|MMR					0	0	0	0.005524	0	37	228				
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:32026081C>T	uc003nzl.2	-	22	7781	c.7579G>A	c.(7579-7581)GAG>AAG	p.E2527K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2587	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACTGTCAGCTCCCCCAGGAGA	0.627		NaN											0	0	0	0.00308	0	8	32				
PHF1	5252	broad.mit.edu	37	6	33380560	33380560	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33380560G>A	uc003oeh.2	+	4	563	c.327G>A	c.(325-327)AAG>AAA	p.K109K	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.K109K|PHF1_uc010jux.2_Intron	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	109	PHD-type 1.				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				GCTGTGAGAAGTGTCGCCATG	0.577		NaN											0	0	0	0.008871	0	19	50				
PHF1	5252	broad.mit.edu	37	6	33383647	33383647	+	Silent	SNP	G	G	C	rs138734488		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383647G>C	uc003oeh.2	+	15	1712	c.1476G>C	c.(1474-1476)TCG>TCC	p.S492S	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R457P|PHF1_uc010jux.2_Silent_p.S292S	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	492					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				CCCCCCACTCGATGACTGCCT	0.542		NaN											0	0	0	0.003755	0	32	105				
PHF1	5252	broad.mit.edu	37	6	33383743	33383743	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383743G>A	uc003oeh.2	+	15	1808	c.1572G>A	c.(1570-1572)GGG>GGA	p.G524G	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Silent_p.G324G	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	524					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				TGTCTCCTGGGACTGGGGGAG	0.612		NaN											0	0	0	0.003755	0	36	101				
PHF1	5252	broad.mit.edu	37	6	33383754	33383754	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383754G>C	uc003oeh.2	+	15	1819	c.1583G>C	c.(1582-1584)GGA>GCA	p.G528A	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Missense_Mutation_p.G328A	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	528					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				ACTGGGGGAGGAGTCCGAGGT	0.617		NaN											0	0	0	0.00278	0	22	123				
USP49	25862	broad.mit.edu	37	6	41774070	41774070	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:41774070C>T	uc003ori.2	-	4	874	c.652G>A	c.(652-654)GAC>AAC	p.D218N		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gggcccgcgtcgcggggcgTG	0.577		NaN											0	0	0	0.00308	0	8	12				
UBR2	23304	broad.mit.edu	37	6	42655960	42655960	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:42655960G>A	uc011dur.1	+	45	4860	c.4860G>A	c.(4858-4860)CCG>CCA	p.P1620P	UBR2_uc011dus.1_Silent_p.P1265P|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.P208P|UBR2_uc011duu.1_Silent_p.P12P	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1620					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGAGGTGCCCGAAATCAGGTG	0.428		NaN											0	0	0	0.004007	0	17	119				
CUL9	23113	broad.mit.edu	37	6	43172787	43172787	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:43172787C>T	uc003ouk.2	+	23	4641	c.4566C>T	c.(4564-4566)TTC>TTT	p.F1522F	CUL9_uc003oul.2_Silent_p.F1522F|CUL9_uc010jyk.2_Silent_p.F674F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1522					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGGCAGCCTTCATGCTGGCTC	0.602		NaN											0	0	0	0.004656	0	26	59				
CAPN11	11131	broad.mit.edu	37	6	44148506	44148506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44148506G>A	uc003owt.1	+	17	1806	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	CAPN11_uc011dvn.1_Missense_Mutation_p.E244K	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	590	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGGTGTATGAGCTCCAGAG	0.602		NaN											0	0	0	0.00245	0	12	46				
HSP90AB1	3326	broad.mit.edu	37	6	44219877	44219877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44219877C>G	uc003oxa.1	+	10	1688	c.1604C>G	c.(1603-1605)TCA>TGA	p.S535*	HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.S525*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.S535*|HSP90AB1_uc011dvs.1_Nonsense_Mutation_p.S355*|HSP90AB1_uc003oxc.1_Nonsense_Mutation_p.S173*	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	535					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCTGGTCTCAGTTACCAAG	0.517		NaN											0	0	0	0.001984	0	7	38				
TDRD6	221400	broad.mit.edu	37	6	46660346	46660346	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660346G>C	uc003oyj.2	+	1	4481	c.4481G>C	c.(4480-4482)AGT>ACT	p.S1494T	TDRD6_uc010jze.2_Missense_Mutation_p.S1488T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1494					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTAATTAAAAGTGCCAGTTCA	0.348		NaN											0	0	0	0.008291	0	10	68				
TDRD6	221400	broad.mit.edu	37	6	46660716	46660716	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660716C>G	uc003oyj.2	+	1	4851	c.4851C>G	c.(4849-4851)CTC>CTG	p.L1617L	TDRD6_uc010jze.2_Silent_p.L1611L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1617	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CAAAAGCACTCTGGGCCATTC	0.423		NaN											0	0	0	0.001523	0	17	81				
TDRD6	221400	broad.mit.edu	37	6	46660747	46660747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660747C>G	uc003oyj.2	+	1	4882	c.4882C>G	c.(4882-4884)CCC>GCC	p.P1628A	TDRD6_uc010jze.2_Missense_Mutation_p.P1622A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1628					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TCTGTCGGTTCCCATGCAAGC	0.413		NaN											0	0	0	0.001882	0	22	67				
TDRD6	221400	broad.mit.edu	37	6	46661399	46661399	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46661399C>G	uc003oyj.2	+	1	5534	c.5534C>G	c.(5533-5535)TCA>TGA	p.S1845*	TDRD6_uc010jze.2_Nonsense_Mutation_p.S1839*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1845					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GATGATGAATCAAAAGAATTC	0.418		NaN											0	0	0	0.000978	0	11	71				
TDRD6	221400	broad.mit.edu	37	6	46665740	46665740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46665740G>C	uc003oyj.2	+	3	6177	c.6177G>C	c.(6175-6177)TTG>TTC	p.L2059F	TDRD6_uc010jze.2_Intron	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	2059	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGTAGGTTTTGAACCTTTCAA	0.308		NaN											0	0	0	0.002096	0	28	135				
GPR110	266977	broad.mit.edu	37	6	46996735	46996735	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46996735G>A	uc003oyt.2	-	2	262	c.63C>T	c.(61-63)TTC>TTT	p.F21F	GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Silent_p.F21F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	21	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TCACCCCCAGGAAGCCACCGT	0.517		NaN											0	0	0	0.000978	0	9	51				
PGK2	5232	broad.mit.edu	37	6	49754286	49754286	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:49754286C>T	uc003ozu.2	-	1	722	c.615G>A	c.(613-615)GTG>GTA	p.V205V		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	205					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					GAAAGGGTCTCACTGGGTTTT	0.433		NaN											0	0	0	0.006122	0	19	80				
FAM83B	222584	broad.mit.edu	37	6	54805774	54805774	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:54805774G>C	uc003pck.2	+	5	2121	c.2005G>C	c.(2005-2007)GAC>CAC	p.D669H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	669										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CCCGTTATTTGACAACTCAAA	0.343		NaN											0	0	0	0.007413	0	17	65				
KCNQ5	56479	broad.mit.edu	37	6	73751754	73751754	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73751754G>A	uc003pgk.2	+	3	932	c.585G>A	c.(583-585)CTG>CTA	p.L195L	KCNQ5_uc003pgj.3_Silent_p.L195L|KCNQ5_uc011dyh.1_Silent_p.L195L|KCNQ5_uc011dyi.1_Silent_p.L195L|KCNQ5_uc010kat.2_Silent_p.L195L|KCNQ5_uc011dyj.1_Silent_p.L195L|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	195					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAGGAAGACTGAGGTTTGCTC	0.438		NaN											0	0	0	0.007291	0	27	122				
KCNQ5	56479	broad.mit.edu	37	6	73904609	73904609	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73904609C>G	uc003pgk.2	+	14	2618	c.2271C>G	c.(2269-2271)ATC>ATG	p.I757M	KCNQ5_uc011dyh.1_Missense_Mutation_p.I776M|KCNQ5_uc011dyi.1_Missense_Mutation_p.I767M|KCNQ5_uc010kat.2_Missense_Mutation_p.I748M|KCNQ5_uc011dyj.1_Missense_Mutation_p.I647M|KCNQ5_uc011dyk.1_Missense_Mutation_p.I507M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	757					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCCCAGCCATCAAGCATCTGC	0.537		NaN											0	0	0	0.007413	0	17	34				
C6orf150	115004	broad.mit.edu	37	6	74150012	74150012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74150012G>T	uc003pgx.1	-	3	1173	c.1034C>A	c.(1033-1035)TCA>TAA	p.S345*		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	345											0						AACTTTTGCTGAAAGCCAGTT	0.393		NaN											1	0	1.2476e-16	0.00632	1.57315e-16	30	76				
CD109	135228	broad.mit.edu	37	6	74502507	74502507	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74502507C>T	uc003php.2	+	23	3285	c.2860C>T	c.(2860-2862)CTT>TTT	p.L954F	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.L954F|CD109_uc010kba.2_Missense_Mutation_p.L877F	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	954						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGAAAAAGCTCTTTCATTTAT	0.303		NaN											0	0	0	0.006214	0	10	35				
COL12A1	1303	broad.mit.edu	37	6	75831126	75831126	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:75831126G>C	uc003phs.2	-	44	7144	c.6978C>G	c.(6976-6978)TTC>TTG	p.F2326L	COL12A1_uc003pht.2_Missense_Mutation_p.F1162L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2326	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CATCAGTCAAGAACACAATAT	0.388		NaN											0	0	0	0.00632	0	25	79				
MDN1	23195	broad.mit.edu	37	6	90442463	90442463	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90442463G>A	uc003pnn.1	-	34	4871	c.4755C>T	c.(4753-4755)TTC>TTT	p.F1585F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1585					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGTCAATGAAATCCAGCA	0.438		NaN											0	0	0	0.003163	0	14	88				
CASP8AP2	9994	broad.mit.edu	37	6	90577917	90577917	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90577917G>C	uc003pnr.2	+	8	5104	c.4908G>C	c.(4906-4908)AAG>AAC	p.K1636N	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1636N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1636N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1636					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTTCAGATAAGATGGGTCATA	0.368		NaN											0	0	0	0.003163	0	14	45				
GPR63	81491	broad.mit.edu	37	6	97247300	97247300	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:97247300C>A	uc010kcl.2	-	3	786	c.308G>T	c.(307-309)TGC>TTC	p.C103F	GPR63_uc003pou.2_Missense_Mutation_p.C103F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	103	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AACCATGAGGCAAACAACCAA	0.443		NaN											1	0	3.45872e-05	0.004007	4.147e-05	16	44				
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:109769984C>T	uc003ptj.2	-	11	1869	c.1615G>A	c.(1615-1617)GAT>AAT	p.D539N	MICAL1_uc003ptk.2_Missense_Mutation_p.D539N|MICAL1_uc010kdr.2_Missense_Mutation_p.D453N|MICAL1_uc011eaq.1_Missense_Mutation_p.D558N	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	539	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622		NaN											0	0	0	0.00361	0	56	122				
RWDD1	51389	broad.mit.edu	37	6	116892761	116892761	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116892761G>A	uc003pxd.2	+	1	179	c.16G>A	c.(16-18)GAG>AAG	p.E6K	RWDD1_uc003pxb.2_5'UTR|RWDD1_uc003pxc.2_5'UTR	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	6							protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AGATTACGGCGAGGAGCAGCG	0.677		NaN											0	0	0	0.004482	0	7	36				
RWDD1	51389	broad.mit.edu	37	6	116914217	116914217	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116914217G>A	uc003pxd.2	+	7	848	c.685G>A	c.(685-687)GAT>AAT	p.D229N	RWDD1_uc003pxb.2_Missense_Mutation_p.D133N|RWDD1_uc003pxc.2_Missense_Mutation_p.D133N	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	229							protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGATGAAGATGATCCAGACTA	0.468		NaN											0	0	0	0.000978	0	12	50				
RSPH4A	345895	broad.mit.edu	37	6	116938321	116938321	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116938321G>A	uc003pxe.2	+	1	680	c.535G>A	c.(535-537)GAC>AAC	p.D179N	RSPH4A_uc010kee.2_Missense_Mutation_p.D179N	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	179					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GCTGAGATTTGACGTTTTTCA	0.502		NaN							Kartagener_syndrome				0	0	0	0.004656	0	26	155				
GPRC6A	222545	broad.mit.edu	37	6	117127555	117127555	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:117127555G>A	uc003pxj.1	-	3	1335	c.1313C>T	c.(1312-1314)CCC>CTC	p.P438L	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P438L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	438	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAAGGCGTTGGGGTTCTGACA	0.448		NaN											0	0	0	0.000978	0	12	50				
HSF2	3298	broad.mit.edu	37	6	122743440	122743440	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:122743440C>G	uc003pyu.2	+	8	1014	c.827C>G	c.(826-828)TCC>TGC	p.S276C	HSF2_uc003pyv.2_Missense_Mutation_p.S276C	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	276					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCTGATCCCTCCAAGTAAGGA	0.274		NaN											0	0	0	0.00361	0	43	165				
CTGF	1490	broad.mit.edu	37	6	132271151	132271151	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:132271151C>G	uc003qcz.2	-	4	897	c.691G>C	c.(691-693)GAG>CAG	p.E231Q		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	231	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCTGCTTCTCTAGCCTGCAG	0.537		NaN									OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004007	0	14	31				
AHI1	54806	broad.mit.edu	37	6	135679284	135679284	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:135679284C>G	uc003qgi.2	-	24	3535	c.3151G>C	c.(3151-3153)GAT>CAT	p.D1051H	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.D501H|AHI1_uc003qgh.2_Missense_Mutation_p.D1051H|AHI1_uc003qgj.2_Missense_Mutation_p.D1051H|AHI1_uc003qgk.3_RNA	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	1051	SH3.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGTGCTGTATCTACCTGATGG	0.353		NaN											0	0	0	0.00361	0	75	295				
MAP7	9053	broad.mit.edu	37	6	136681163	136681163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:136681163C>G	uc003qgz.2	-	14	2056	c.1810G>C	c.(1810-1812)GAG>CAG	p.E604Q	MAP7_uc011edf.1_Missense_Mutation_p.E589Q|MAP7_uc011edg.1_Missense_Mutation_p.E634Q|MAP7_uc010kgu.2_Missense_Mutation_p.E626Q|MAP7_uc011edh.1_Missense_Mutation_p.E589Q|MAP7_uc010kgv.2_Missense_Mutation_p.E626Q|MAP7_uc010kgs.2_Missense_Mutation_p.E458Q|MAP7_uc011edi.1_Missense_Mutation_p.E458Q|MAP7_uc010kgq.1_Missense_Mutation_p.E510Q|MAP7_uc003qha.1_Missense_Mutation_p.E567Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	604	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATAATCTCCTCAAGTCGCTAT	0.343		NaN											0	0	0	0.006122	0	18	51				
KIAA1244	57221	broad.mit.edu	37	6	138612877	138612877	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:138612877G>C	uc003qhu.2	+	19	3055	c.3055G>C	c.(3055-3057)GAA>CAA	p.E1019Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1019					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TAGGGTGTGTGAATACGTGGG	0.602		NaN											0	0	0	0.000248	0	4	13				
TAB2	23118	broad.mit.edu	37	6	149700238	149700238	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149700238G>C	uc003qmj.2	+	3	1365	c.1187G>C	c.(1186-1188)GGA>GCA	p.G396A	TAB2_uc011eec.1_Missense_Mutation_p.G364A|TAB2_uc010kia.1_Missense_Mutation_p.G396A|TAB2_uc010kib.1_Missense_Mutation_p.G396A|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	396					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GCTGCCACAGGAGATGAACAG	0.512		NaN											0	0	0	0.008291	0	10	45				
TAB2	23118	broad.mit.edu	37	6	149730837	149730837	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149730837G>C	uc003qmj.2	+	7	2242	c.2064G>C	c.(2062-2064)GAG>GAC	p.E688D	TAB2_uc011eec.1_Missense_Mutation_p.E656D|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	688	RanBP2-type.				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						AACAGTGTGAGATGCCAAGGC	0.433		NaN											0	0	0	0.005524	0	36	100				
SYNE1	23345	broad.mit.edu	37	6	152551728	152551728	+	Missense_Mutation	SNP	C	C	G	rs143639400		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:152551728C>G	uc010kiw.2	-	115	21751	c.21149G>C	c.(21148-21150)CGA>CCA	p.R7050P	SYNE1_uc010kiv.2_Missense_Mutation_p.R1574P|SYNE1_uc003qos.3_Missense_Mutation_p.R1574P|SYNE1_uc003qot.3_Missense_Mutation_p.R6979P|SYNE1_uc003qou.3_Missense_Mutation_p.R7050P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7050	Cytoplasmic (Potential).|Spectrin 22.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTCCAATTCGATGCTGTTG	0.393		NaN								HNSCC(10;0.0054)			0	0	0	0.004656	0	25	131				
SYTL3	94120	broad.mit.edu	37	6	159181754	159181754	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159181754G>A	uc003qrp.2	+	14	1635	c.1391G>A	c.(1390-1392)AGA>AAA	p.R464K	SYTL3_uc011efp.1_Missense_Mutation_p.R464K|SYTL3_uc003qro.2_Missense_Mutation_p.R396K|SYTL3_uc003qrq.2_Missense_Mutation_p.R396K|SYTL3_uc003qrr.2_Missense_Mutation_p.R464K|SYTL3_uc003qrs.2_Missense_Mutation_p.R396K|SYTL3_uc011efq.1_Missense_Mutation_p.R190K	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	464					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCACGGCCCAGAAAACTCCAA	0.567		NaN											0	0	0	0.006122	0	17	41				
SYTL3	94120	broad.mit.edu	37	6	159184504	159184504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159184504G>T	uc003qrp.2	+	16	1930	c.1686G>T	c.(1684-1686)ATG>ATT	p.M562I	SYTL3_uc011efp.1_Missense_Mutation_p.M562I|SYTL3_uc003qro.2_Missense_Mutation_p.M494I|SYTL3_uc003qrq.2_Missense_Mutation_p.M494I|SYTL3_uc003qrr.2_Missense_Mutation_p.M562I|SYTL3_uc003qrs.2_Missense_Mutation_p.M494I|SYTL3_uc011efq.1_Missense_Mutation_p.M288I	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	562	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCTTTGGAATGAACGACCGCT	0.488		NaN											1	0	1.5842e-08	0.001855	1.93326e-08	13	85				
RPS6KA2	6196	broad.mit.edu	37	6	166844058	166844058	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:166844058C>T	uc003qvb.1	-	16	1683	c.1464G>A	c.(1462-1464)CTG>CTA	p.L488L	RPS6KA2_uc011ego.1_Silent_p.L399L|RPS6KA2_uc010kkl.1_Silent_p.L399L|RPS6KA2_uc003qvc.1_Silent_p.L496L|RPS6KA2_uc003qvd.1_Silent_p.L513L	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	488	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACCACGCATCAGCTCCATTA	0.577		NaN											0	0	0	0.00245	0	14	45				
TTYH3	80727	broad.mit.edu	37	7	2701309	2701309	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2701309C>G	uc003smp.2	+	14	1695	c.1508C>G	c.(1507-1509)TCC>TGC	p.S503C	TTYH3_uc010ksn.2_Missense_Mutation_p.S223C|TTYH3_uc003smq.2_Missense_Mutation_p.S332C	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	503	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CAGTACACCTCCAGCATGAGA	0.682		NaN											0	0	0	0.004482	0	8	15				
CARD11	84433	broad.mit.edu	37	7	2957020	2957020	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2957020C>G	uc003smv.2	-	20	3012	c.2608_splice	c.e20-1	p.N870_splice		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11						positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCAGGGTGTTCTGAAATGAAT	0.562		NaN	Mis		DLBCL								0	0	0	0.007413	0	19	45				
MIOS	54468	broad.mit.edu	37	7	7622975	7622975	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:7622975C>G	uc003srf.2	+	6	1928	c.1620C>G	c.(1618-1620)ATC>ATG	p.I540M	MIOS_uc003srg.2_Missense_Mutation_p.I75M|MIOS_uc010ktq.2_5'Flank	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	540											0						CAATCCAAATCCTGAATGAAG	0.388		NaN											0	0	0	0.001855	0	12	52				
THSD7A	221981	broad.mit.edu	37	7	11468661	11468661	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:11468661C>G	uc003ssf.3	-	14	3408	c.3156G>C	c.(3154-3156)GGG>GGC	p.G1052G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1052	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACACCACTCCCACAGGACT	0.517		NaN								HNSCC(18;0.044)			0	0	0	0.00361	0	95	283				
HOXA10	3206	broad.mit.edu	37	7	27211670	27211670	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:27211670G>T	uc011jzm.1	-	2	1111	c.1081C>A	c.(1081-1083)CTT>ATT	p.L361I	MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.L45I	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	361	Homeobox.				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTCGAGTAAGGTACATATTG	0.522		NaN											1	0	1.52378e-38	0.00361	1.95217e-38	75	696				
KBTBD2	25948	broad.mit.edu	37	7	32909880	32909880	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:32909880C>G	uc003tdb.2	-	4	1608	c.949G>C	c.(949-951)GAT>CAT	p.D317H	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	317	Kelch 1.										0			GBM - Glioblastoma multiforme(11;0.0499)			ATGTAGATATCATTATCAGGA	0.413		NaN											0	0	0	0.00632	0	28	83				
C7orf25	79020	broad.mit.edu	37	7	42949965	42949965	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:42949965C>G	uc003thw.2	-	2	999	c.535G>C	c.(535-537)GAG>CAG	p.E179Q	C7orf25_uc010kxq.2_Missense_Mutation_p.E179Q|C7orf25_uc003thx.3_Missense_Mutation_p.E237Q|C7orf25_uc010kxr.2_Missense_Mutation_p.E237Q	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	179										skin(1)	1						TTCAGCTTCTCTGCCATGGGG	0.493		NaN											0	0	0	0.001368	0	13	88				
GCK	2645	broad.mit.edu	37	7	44192943	44192943	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44192943C>T	uc003tkl.2	-	2	635	c.165G>A	c.(163-165)GTG>GTA	p.V55V	GCK_uc003tkj.1_Silent_p.V54V|GCK_uc003tkk.1_Silent_p.V56V	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	55					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						GCAGCATCTTCACACTGGCCT	0.602		NaN											0	0	0	0.00361	0	65	131				
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44193018C>A	uc003tkl.2	-	2	560	c.90G>T	c.(88-90)CTG>CTT	p.L30L	GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TCACCTTCTTCAGGTCCTCCT	0.632		NaN											1	0	9.47799e-51	0.00361	1.21751e-50	83	225				
YKT6	10652	broad.mit.edu	37	7	44250704	44250704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44250704C>G	uc003tkm.2	+	6	699	c.542C>G	c.(541-543)TCT>TGT	p.S181C	YKT6_uc011kbv.1_Intron	NM_006555	NP_006546	O15498	YKT6_HUMAN	YKT6 v-SNARE protein	181	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity				0						GGAACACAGTCTAAAGCCTTC	0.502		NaN											0	0	0	0.000978	0	12	41				
ABCA13	154664	broad.mit.edu	37	7	48319282	48319282	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48319282C>T	uc003toq.2	+	18	8516	c.8491C>T	c.(8491-8493)CTG>TTG	p.L2831L	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2831				L -> R (in Ref. 1; AAP13576).	transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GAAAGGACTTCTGTTTAACAA	0.348		NaN											0	0	0	0.00361	0	48	116				
ABCA13	154664	broad.mit.edu	37	7	48559842	48559842	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48559842T>G	uc003toq.2	+	53	14028	c.14003T>G	c.(14002-14004)CTT>CGT	p.L4668R	ABCA13_uc010kys.1_Missense_Mutation_p.L1743R|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L398R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4668	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GGCACAGTACTTCTCCTCTTG	0.527		NaN											0	0	0	0.000602	0	5	43				
POM121L12	285877	broad.mit.edu	37	7	53104099	53104099	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:53104099C>T	uc003tpz.2	+	1	751	c.735C>T	c.(733-735)CTC>CTT	p.L245L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	245											0						CCTGGAGCCTCAGTTTTTGTG	0.647		NaN											0	0	0	0.004007	0	17	66				
SEPT14	346288	broad.mit.edu	37	7	55873034	55873034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:55873034G>A	uc003tqz.2	-	9	1153	c.1036C>T	c.(1036-1038)CAG>TAG	p.Q346*		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	346	Potential.				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTCCCTCTGACATTGATCA	0.303		NaN											0	0	0	0.000602	0	5	52				
AUTS2	26053	broad.mit.edu	37	7	70228261	70228261	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:70228261C>G	uc003tvw.3	+	7	1891	c.1148C>G	c.(1147-1149)TCT>TGT	p.S383C	AUTS2_uc003tvx.3_Missense_Mutation_p.S383C|AUTS2_uc011keg.1_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	383	Ser-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCCACCCCTCTGCTCAGAGC	0.607		NaN											0	0	0	0.001368	0	10	106				
TYW1B	441250	broad.mit.edu	37	7	72081725	72081725	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:72081725G>C	uc011kej.1	-	16	1876	c.1717C>G	c.(1717-1719)CTG>GTG	p.L573V	TYW1B_uc011keh.1_Missense_Mutation_p.L411V|TYW1B_uc011kei.1_Missense_Mutation_p.L199V	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	573					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0						TCGGGGATCAGATCCACCAGC	0.473		NaN											0	0	0	0.00278	0	24	86				
EIF4H	7458	broad.mit.edu	37	7	73588773	73588773	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:73588773G>A	uc003uad.1	+	1	67	c.59_splice	c.e1+1	p.G20_splice	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Splice_Site_p.G20_splice|EIF4H_uc010lbm.2_Splice_Site_p.G20_splice|EIF4H_uc003uae.1_Splice_Site_p.G20_splice|EIF4H_uc003uaf.1_Splice_Site	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						GCGGCAGAGGGTGAGGCGGGC	0.667		NaN											0	0	0	0.000978	0	9	55				
FGL2	10875	broad.mit.edu	37	7	76828608	76828608	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76828608T>G	uc003ugb.2	-	1	543	c.503A>C	c.(502-504)AAC>ACC	p.N168T	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	168					signal transduction	fibrinogen complex	receptor binding			skin(2)	2						ATTTTCTATGTTGTTCATATT	0.388		NaN											0	0	0	0.005443	0	28	88				
PION	54103	broad.mit.edu	37	7	76984619	76984619	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76984619G>A	uc003ugf.2	-	16	1328	c.1249C>T	c.(1249-1251)CTG>TTG	p.L417L	PION_uc003ugg.1_Silent_p.L202L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	417					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						GTGTTCTGCAGAAGCTGTAAT	0.502		NaN											0	0	0	0.00623	0	42	122				
PTPN12	5782	broad.mit.edu	37	7	77256781	77256781	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:77256781C>T	uc003ugh.2	+	13	1876	c.1785C>T	c.(1783-1785)CTC>CTT	p.L595L	PTPN12_uc011kgp.1_Silent_p.L476L|PTPN12_uc011kgq.1_Silent_p.L465L|PTPN12_uc010lds.2_Silent_p.L327L	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	595						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						GAACACCCCTCAGTTTTACTA	0.403		NaN											0	0	0	0.002852	0	44	134				
CACNA2D1	781	broad.mit.edu	37	7	81667445	81667445	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:81667445C>T	uc003uhr.1	-	11	1242	c.986G>A	c.(985-987)GGA>GAA	p.G329E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	329	Extracellular (Potential).|VWFA.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	atctgtaattcctttggctGT	0.294		NaN											0	0	0	0.002096	0	33	87				
ZNF804B	219578	broad.mit.edu	37	7	88966042	88966042	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:88966042C>G	uc011khi.1	+	4	4284	c.3746C>G	c.(3745-3747)TCG>TGG	p.S1249W		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCATTTTCGACTCTGACT	0.458		NaN								HNSCC(36;0.09)			0	0	0	0.001855	0	14	169				
STEAP1	26872	broad.mit.edu	37	7	89789150	89789150	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:89789150G>A	uc003ujx.2	+	2	248	c.48G>A	c.(46-48)ATG>ATA	p.M16I	STEAP1_uc010lem.2_Missense_Mutation_p.M16I	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	16					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TTTGGAAAATGAAGCCTAGGA	0.254		NaN											0	0	0	0.008291	0	10	105				
CDK14	5218	broad.mit.edu	37	7	90356077	90356077	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:90356077C>G	uc003uky.2	+	3	542	c.320C>G	c.(319-321)TCC>TGC	p.S107C	CDK14_uc003ukt.1_Missense_Mutation_p.S61C|CDK14_uc003ukv.1_Missense_Mutation_p.S61C|CDK14_uc003uku.1_Missense_Mutation_p.S61C|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.S89C|CDK14_uc010les.1_Missense_Mutation_p.S61C|CDK14_uc011khl.1_Missense_Mutation_p.P10A	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	107					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						AAGACCTCCTCCACTGGCAAA	0.458		NaN											0	0	0	0.00308	0	8	83				
CYP51A1	1595	broad.mit.edu	37	7	91761093	91761093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:91761093C>T	uc003ulm.3	-	2	448	c.286G>A	c.(286-288)GAG>AAG	p.E96K	CYP51A1_uc011khn.1_5'UTR|CYP51A1_uc003uln.3_Missense_Mutation_p.E33K|uc003ulo.1_5'Flank	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	90					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTTACCTTCTCATATGCATTT	0.318		NaN											0	0	0	0.008291	0	10	29				
CASD1	64921	broad.mit.edu	37	7	94166908	94166908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:94166908C>G	uc003uni.3	+	9	1195	c.968C>G	c.(967-969)TCT>TGT	p.S323C	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.S323C	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	323	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCACTTTATCTATTATCGGA	0.358		NaN											0	0	0	0.003954	0	27	92				
TRRAP	8295	broad.mit.edu	37	7	98548583	98548583	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98548583G>C	uc003upp.2	+	38	5607	c.5398G>C	c.(5398-5400)GAA>CAA	p.E1800Q	TRRAP_uc011kis.1_Missense_Mutation_p.E1782Q|TRRAP_uc003upr.2_Missense_Mutation_p.E1499Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1800					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAATCCAGAAGGAGATAA	0.448		NaN											0	0	0	0.00361	0	69	238				
SMURF1	57154	broad.mit.edu	37	7	98649052	98649052	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98649052G>C	uc003upu.1	-	8	1054	c.734C>G	c.(733-735)ACA>AGA	p.T245R	SMURF1_uc003upv.1_Missense_Mutation_p.T245R|SMURF1_uc003upt.2_Missense_Mutation_p.T245R	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	245	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCTGGACTGTTGTTCTTTG	0.473		NaN											0	0	0	0.00361	0	48	96				
C7orf51	222950	broad.mit.edu	37	7	100087045	100087045	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100087045C>G	uc003uvd.1	+	4	1860	c.1701C>G	c.(1699-1701)CTC>CTG	p.L567L	C7orf51_uc003uve.1_Silent_p.L349L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	567										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGAGAGCCTCAAGGCTGGGG	0.647		NaN											0	0	0	0.006122	0	18	42				
GIGYF1	64599	broad.mit.edu	37	7	100283618	100283618	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283618C>G	uc003uwg.1	-	9	2042	c.1033G>C	c.(1033-1035)GAG>CAG	p.E345Q		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	345										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCCTCCTCTAGCCCTTCG	0.687		NaN											0	0	0	0.001855	0	12	32				
GIGYF1	64599	broad.mit.edu	37	7	100283898	100283898	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283898C>G	uc003uwg.1	-	8	1862	c.853G>C	c.(853-855)GAG>CAG	p.E285Q		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	285										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGTCCTCCTCAAAGCCTTCA	0.607		NaN											0	0	0	0.001786	0	27	101				
GIGYF1	64599	broad.mit.edu	37	7	100284421	100284421	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100284421C>G	uc003uwg.1	-	7	1554	c.545G>C	c.(544-546)GGA>GCA	p.G182A		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	182										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCAGCCCCTCCCTCCTCAAA	0.557		NaN											0	0	0	0.007413	0	17	51				
PRKAR2B	5577	broad.mit.edu	37	7	106797459	106797459	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:106797459G>C	uc003vdx.2	+	9	1124	c.949G>C	c.(949-951)GAA>CAA	p.E317Q		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	317	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						TTTCATTGTAGAATCTGGAGA	0.343		NaN											0	0	0	0.00361	0	44	136				
GPR22	2845	broad.mit.edu	37	7	107115258	107115258	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107115258G>A	uc003vef.2	+	3	2099	c.753G>A	c.(751-753)AAG>AAA	p.K251K	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	251	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2						CAGGGCAGAAGAAGAAAGCAA	0.363		NaN											0	0	0	0.004482	0	8	23				
SLC26A3	1811	broad.mit.edu	37	7	107430026	107430026	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107430026G>C	uc003ver.2	-	6	889	c.678C>G	c.(676-678)CTC>CTG	p.L226L	SLC26A3_uc003ves.2_Silent_p.L191L	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	226					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						AAATGAATTTGAGTTGGGAAA	0.388		NaN											0	0	0	0.000248	0	3	34				
FOXP2	93986	broad.mit.edu	37	7	114282626	114282626	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:114282626C>T	uc003vhb.2	+	7	1311	c.937C>T	c.(937-939)CAT>TAT	p.H313Y	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.H338Y|FOXP2_uc003vha.2_Missense_Mutation_p.H221Y|FOXP2_uc011kmu.1_Missense_Mutation_p.H330Y|FOXP2_uc011kmv.1_Missense_Mutation_p.H312Y|FOXP2_uc010ljz.1_Missense_Mutation_p.H221Y|FOXP2_uc003vgx.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhd.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhc.2_Missense_Mutation_p.H338Y	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	313					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						ACCAATAACTCATCATTCCAT	0.393		NaN											0	0	0	0.002299	0	20	61				
PTPRZ1	5803	broad.mit.edu	37	7	121652699	121652699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121652699C>T	uc003vjy.2	+	12	3994	c.3599C>T	c.(3598-3600)CCA>CTA	p.P1200L	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1200	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ACTGTTCTTCCAGCTGTGCCC	0.378		NaN											0	0	0	0.00361	0	50	161				
FEZF1	389549	broad.mit.edu	37	7	121943827	121943827	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121943827G>C	uc003vkd.2	-	1	739	c.665C>G	c.(664-666)TCC>TGC	p.S222C	FEZF1_uc003vkc.2_Missense_Mutation_p.S172C|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	222					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						CTGAGCCTGGGACAGGTCTTT	0.512		NaN											0	0	0	0.005443	0	27	87				
GPR37	2861	broad.mit.edu	37	7	124386968	124386968	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:124386968G>T	uc003vli.2	-	2	2104	c.1453C>A	c.(1453-1455)CAA>AAA	p.Q485K		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	485	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CTCTCTAGTTGAATCTGCCGT	0.433		NaN											1	0	2.48779e-11	0.005443	3.09898e-11	26	102				
METTL2B	55798	broad.mit.edu	37	7	128119545	128119545	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:128119545C>T	uc003vnf.2	+	3	573	c.536C>T	c.(535-537)TCA>TTA	p.S179L	METTL2B_uc003vng.2_Missense_Mutation_p.S114L|METTL2B_uc011kop.1_Missense_Mutation_p.S43L	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	179							methyltransferase activity			skin(1)	1						CCTGGATCCTCAGCCACCTAC	0.428		NaN											0	0	0	0.00278	0	22	81				
ATP6V0A4	50617	broad.mit.edu	37	7	138447178	138447178	+	Missense_Mutation	SNP	G	G	A	rs144802156	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:138447178G>A	uc003vuf.2	-	6	657	c.419C>T	c.(418-420)ACG>ATG	p.T140M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.T140M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T140M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	140	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						ATTGGTTTCCGTCTGAAAGTC	0.393		NaN											0	0	0	0.003163	0	15	43				
TRPV6	55503	broad.mit.edu	37	7	142571845	142571845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:142571845G>A	uc003wbx.1	-	12	1719	c.1503C>T	c.(1501-1503)ATC>ATT	p.I501I	TRPV6_uc003wbw.1_Silent_p.I287I|TRPV6_uc010lou.1_Silent_p.I372I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	501	Helical; (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CAAAGCCCAGGATGACCACAG	0.537		NaN											0	0	0	0.004482	0	6	24				
C7orf29	113763	broad.mit.edu	37	7	150028006	150028006	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150028006G>A	uc003wgy.2	+	1	1069	c.513G>A	c.(511-513)GAG>GAA	p.E171E	LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	hypothetical protein LOC113763	171										ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTTGCTGGAGAGCATGGGGC	0.632		NaN											0	0	0	0.000602	0	5	27				
ABCB8	11194	broad.mit.edu	37	7	150732745	150732745	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150732745G>A	uc003wil.3	+	7	987	c.894G>A	c.(892-894)CTG>CTA	p.L298L	ABCB8_uc003wii.2_Silent_p.L318L|ABCB8_uc003wij.3_Silent_p.L281L|ABCB8_uc010lpw.1_Silent_p.L100L|ABCB8_uc010lpx.2_Silent_p.L281L|ABCB8_uc011kvd.1_Silent_p.L193L|ABCB8_uc003wim.3_Silent_p.L76L|ABCB8_uc003wik.3_Silent_p.L281L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	298	ABC transmembrane type-1.|Helical; (Potential).					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTGCTGCTGATGGTGGCCA	0.652		NaN											0	0	0	0.002836	0	35	76				
GBX1	2636	broad.mit.edu	37	7	150864185	150864185	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150864185C>T	uc011kvg.1	-	1	683	c.451G>A	c.(451-453)GAT>AAT	p.D151N		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	151	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCATCAGCTTCCAGC	0.542		NaN											0	0	0	0.00632	0	26	75				
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:157387990C>A	uc003wno.2	-	17	2557	c.2436G>T	c.(2434-2436)AGG>AGT	p.R812S	PTPRN2_uc003wnp.2_Missense_Mutation_p.R795S|PTPRN2_uc003wnq.2_Missense_Mutation_p.R783S|PTPRN2_uc003wnr.2_Missense_Mutation_p.R774S|PTPRN2_uc011kwa.1_Missense_Mutation_p.R835S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	812	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532		NaN											1	0	4.7796e-09	0.004656	5.85258e-09	24	72				
NCAPG2	54892	broad.mit.edu	37	7	158437065	158437065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:158437065G>C	uc003wnv.1	-	27	3441	c.3296C>G	c.(3295-3297)TCA>TGA	p.S1099*	NCAPG2_uc010lqu.1_Nonsense_Mutation_p.S844*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.S553*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.S542*	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	1099					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCACTTTTGAGCTTTTATG	0.358		NaN											0	0	0	0.002299	0	21	145				
FGL1	2267	broad.mit.edu	37	8	17739572	17739572	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:17739572G>C	uc003wxx.2	-	4	504	c.180C>G	c.(178-180)GTC>GTG	p.V60V	FGL1_uc003wxy.2_Silent_p.V60V|FGL1_uc003wxz.2_Silent_p.V60V|FGL1_uc003wya.2_Silent_p.V60V|FGL1_uc003wyb.2_Silent_p.V60V|FGL1_uc003wyc.2_Silent_p.V60V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V110V|FGL1_uc003wyf.2_Silent_p.V30V	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	60	Potential.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGGAACTGGACTTCATTCT	0.478		NaN											0	0	0	0.002836	0	36	83				
LGI3	203190	broad.mit.edu	37	8	22011497	22011497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22011497C>G	uc003xav.2	-	5	767	c.478G>C	c.(478-480)GAC>CAC	p.D160H	LGI3_uc010ltu.2_Missense_Mutation_p.D136H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	160					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTCAGGATGTCCAGGGGCCGG	0.572		NaN											0	0	0	0.003163	0	12	81				
C8orf58	541565	broad.mit.edu	37	8	22459311	22459311	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22459311G>C	uc003xce.2	+	3	715	c.603G>C	c.(601-603)CAG>CAC	p.Q201H	C8orf58_uc011kzl.1_Missense_Mutation_p.Q201H|C8orf58_uc003xcf.2_Missense_Mutation_p.Q201H|KIAA1967_uc003xch.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	201										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCTGGAGCAGATGGCAAGGC	0.662		NaN											0	0	0	0.002222	0	41	98				
CDCA2	157313	broad.mit.edu	37	8	25343351	25343351	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:25343351C>T	uc003xep.1	+	11	1921	c.1442C>T	c.(1441-1443)TCA>TTA	p.S481L	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S481L|CDCA2_uc003xeq.1_Missense_Mutation_p.S466L|CDCA2_uc003xer.1_Missense_Mutation_p.S144L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	481					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGACCCTTTCAGGTAGTAAC	0.279		NaN											0	0	0	0.008291	0	11	30				
RAB11FIP1	80223	broad.mit.edu	37	8	37728859	37728859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:37728859G>T	uc003xkm.1	-	4	3505	c.3461C>A	c.(3460-3462)TCA>TAA	p.S1154*	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	1154					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTCCGAGGGTGAGACCCAGGC	0.542		NaN									OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.62699e-14	0.003163	3.28945e-14	15	199				
IKBKB	3551	broad.mit.edu	37	8	42179979	42179979	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:42179979G>A	uc003xow.1	+	19	2130	c.1953G>A	c.(1951-1953)CAG>CAA	p.Q651Q	IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.Q428Q|IKBKB_uc003xox.1_Silent_p.Q372Q|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.Q649Q|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.Q592Q	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	651					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGAAGCGGCAGAAGGAGCTCT	0.567		NaN											0	0	0	0.006122	0	18	121				
POTEA	340441	broad.mit.edu	37	8	43197332	43197332	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:43197332C>G	uc003xpz.1	+	11	1264	c.1221C>G	c.(1219-1221)GTC>GTG	p.V407V	POTEA_uc003xqa.1_Silent_p.V361V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	407										ovary(1)	1						TCTTACAGGTCAAAAGCCAAA	0.318		NaN											0	0	0	0.001168	0	4	44				
PRKDC	5591	broad.mit.edu	37	8	48711931	48711931	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48711931C>T	uc003xqi.2	-	73	10194	c.10137G>A	c.(10135-10137)CAG>CAA	p.Q3379Q	PRKDC_uc003xqj.2_Silent_p.Q3379Q|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3379	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGAATGCTCTCTGGTACAGAC	0.552		NaN						NHEJ					0	0	0	0.00361	0	59	93				
PRKDC	5591	broad.mit.edu	37	8	48801695	48801695	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48801695C>A	uc003xqi.2	-	34	4217	c.4160G>T	c.(4159-4161)GGA>GTA	p.G1387V	PRKDC_uc003xqj.2_Missense_Mutation_p.G1387V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1387					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGACGTCTCCGATGTTGAA	0.463		NaN						NHEJ					1	0	2.4624e-09	0.008871	3.02032e-09	18	54				
MYBL1	4603	broad.mit.edu	37	8	67507965	67507965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:67507965C>T	uc003xwj.2	-	6	947	c.540G>A	c.(538-540)TGG>TGA	p.W180*	MYBL1_uc003xwl.2_Nonsense_Mutation_p.W180*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.W180*	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	180	HTH myb-type 3.|H-T-H motif (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAGTAGAATTCCAATGATTTT	0.333		NaN											0	0	0	0.000248	0	4	6				
TRPA1	8989	broad.mit.edu	37	8	72975076	72975076	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:72975076G>C	uc003xza.2	-	6	940	c.765C>G	c.(763-765)ATC>ATG	p.I255M		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	255	ANK 6.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GGCACATTTTGATCATTTCCA	0.388		NaN											0	0	0	0.001855	0	13	71				
LRRCC1	85444	broad.mit.edu	37	8	86022358	86022358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:86022358G>A	uc003ycw.2	+	3	473	c.319G>A	c.(319-321)GAA>AAA	p.E107K	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.E14K|LRRCC1_uc003ycy.2_Missense_Mutation_p.E87K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	107	LRR 3.				cell division|mitosis	centriole|nucleus					0						aGGACTTGAAGAACTAATTAA	0.229		NaN											0	0	0	0.008291	0	9	52				
RIPK2	8767	broad.mit.edu	37	8	90798902	90798902	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:90798902G>A	uc003yee.2	+	9	1425	c.1111G>A	c.(1111-1113)GAT>AAT	p.D371N	RIPK2_uc003yef.2_Missense_Mutation_p.D234N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	371					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAAGACAATGATTTTTTATC	0.338		NaN											0	0	0	0.001855	0	13	124				
PGCP	10404	broad.mit.edu	37	8	98155285	98155285	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98155285C>T	uc003yhw.2	+	8	1459	c.1293C>T	c.(1291-1293)TTC>TTT	p.F431F		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	431					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					AGTATTTCTTCTTCCATCACT	0.433		NaN											0	0	0	0.004007	0	16	37				
MTDH	92140	broad.mit.edu	37	8	98712020	98712020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98712020G>C	uc003yhz.2	+	7	1415	c.1087G>C	c.(1087-1089)GAT>CAT	p.D363H	MTDH_uc010mbf.2_Intron	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	363	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TACCACTTCTGATTATCAGTG	0.333		NaN											0	0	0	0.008361	0	27	183				
NIPAL2	79815	broad.mit.edu	37	8	99234791	99234791	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:99234791C>A	uc003yil.1	-	5	730	c.474G>T	c.(472-474)GTG>GTT	p.V158V	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V158V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	158	Helical; (Potential).					integral to membrane					0						GAGCAAAGTTCACCAGTAAAT	0.363		NaN											1	0	3.52763e-06	0.00499	4.258e-06	17	130				
FBXO43	286151	broad.mit.edu	37	8	101153700	101153700	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:101153700G>C	uc003yjd.2	-	2	1495	c.782C>G	c.(781-783)TCT>TGT	p.S261C	FBXO43_uc003yje.2_Missense_Mutation_p.S227C|FBXO43_uc010mbp.1_Missense_Mutation_p.S261C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	261					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATGTGTGATAGAGTCTTTAAA	0.378		NaN											0	0	0	0.002299	0	23	46				
ASAP1	50807	broad.mit.edu	37	8	131200403	131200403	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:131200403G>A	uc003yta.1	-	5	460	c.432C>T	c.(430-432)ATC>ATT	p.I144I	ASAP1_uc011liw.1_Silent_p.I137I	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	144					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						CCAAGGTGAAGATCACATTGT	0.323		NaN											0	0	0	0.00361	0	44	265				
PTK2	5747	broad.mit.edu	37	8	141754781	141754781	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:141754781G>A	uc003yvu.2	-	19	1834	c.1604C>T	c.(1603-1605)GCA>GTA	p.A535V	PTK2_uc003yvo.2_Missense_Mutation_p.A163V|PTK2_uc011ljq.1_Missense_Mutation_p.A230V|PTK2_uc003yvp.2_Missense_Mutation_p.A203V|PTK2_uc003yvq.2_Missense_Mutation_p.A61V|PTK2_uc003yvr.2_Missense_Mutation_p.A475V|PTK2_uc003yvs.2_Missense_Mutation_p.A535V|PTK2_uc003yvt.2_Missense_Mutation_p.A557V|PTK2_uc003yvv.2_Missense_Mutation_p.A435V|PTK2_uc011ljr.1_Missense_Mutation_p.A535V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	535	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCTAGATATGCAAGAGCTGT	0.383		NaN											0	0	0	0.003271	0	30	110				
CYP11B2	1585	broad.mit.edu	37	8	143999073	143999073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:143999073C>T	uc003yxk.1	-	1	187	c.184G>A	c.(184-186)GAG>AAG	p.E62K		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	62					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCAGGTGCTCATAACCCTGC	0.637		NaN							Familial_Hyperaldosteronism_type_I				0	0	0	0.001168	0	6	55				
TOP1MT	116447	broad.mit.edu	37	8	144411579	144411579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144411579C>T	uc003yxz.2	-	3	320	c.301G>A	c.(301-303)GAT>AAT	p.D101N	TOP1MT_uc011lkd.1_Missense_Mutation_p.D3N|TOP1MT_uc011lke.1_Missense_Mutation_p.D3N|TOP1MT_uc010mfb.2_Missense_Mutation_p.D3N|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	101					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TATTCATGATCTAACATCCTC	0.547		NaN											0	0	0	0.003163	0	15	121				
RHPN1	114822	broad.mit.edu	37	8	144463988	144463988	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144463988G>A	uc003yyb.2	+	14	1780	c.1647G>A	c.(1645-1647)CTG>CTA	p.L549L		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	574	PDZ.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CGGCTGGCCTGAAGGAGGGCG	0.677		NaN											0	0	0	0.00308	0	8	15				
ZNF16	7564	broad.mit.edu	37	8	146156262	146156262	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:146156262G>A	uc003zet.2	-	4	2098	c.1911C>T	c.(1909-1911)GCC>GCT	p.A637A	ZNF16_uc003zeu.2_Silent_p.A637A	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	637	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGACTGAAGGCTTTCCCAC	0.542		NaN											0	0	0	0.005443	0	28	77				
MPDZ	8777	broad.mit.edu	37	9	13224526	13224526	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:13224526G>A	uc010mia.1	-	3	297	c.240C>T	c.(238-240)CTC>CTT	p.L80L	MPDZ_uc010mhy.2_Silent_p.L80L|MPDZ_uc010mhz.2_Silent_p.L80L|MPDZ_uc011lmn.1_Silent_p.L80L|MPDZ_uc003zlb.3_Silent_p.L80L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	80					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTGGGCTGAGATGAGGAA	0.378		NaN											0	0	0	0.004656	0	27	33				
FREM1	158326	broad.mit.edu	37	9	14805073	14805073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805073C>T	uc003zlm.2	-	19	3942	c.3352G>A	c.(3352-3354)GCC>ACC	p.A1118T	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1118	CSPG 7.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AACTGGTCGGCAGTTGGTTCT	0.438		NaN											0	0	0	0.00361	0	50	60				
FREM1	158326	broad.mit.edu	37	9	14805089	14805089	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805089C>T	uc003zlm.2	-	19	3926	c.3336G>A	c.(3334-3336)CTG>CTA	p.L1112L	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1112	CSPG 7.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTCTATCCTCAGATGCCTGG	0.408		NaN											0	0	0	0.00361	0	52	64				
RPS6	6194	broad.mit.edu	37	9	19376375	19376375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:19376375C>G	uc003znv.1	-	6	708	c.666G>C	c.(664-666)GAG>GAC	p.E222D	RPS6_uc003znu.1_Missense_Mutation_p.E191D	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	222					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CCTGGCGCTTCTCCTTAGCCT	0.448		NaN											0	0	0	0.002096	0	32	52				
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971003C>T	uc003zpk.2	-	2	567	c.355G>A	c.(355-357)GAG>AAG	p.E119K	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.*174*	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	119	ANK 4.		E -> Q (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.001855	0	14	21		Valid		
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	T	rs121913381		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971036C>T	uc003zpk.2	-	2	534	c.322G>A	c.(322-324)GAT>AAT	p.D108N	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163Q	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	108			D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.000978	0	10	17		Valid		
PLAA	9373	broad.mit.edu	37	9	26905860	26905860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:26905860C>G	uc003zqd.2	-	14	2462	c.2037G>C	c.(2035-2037)CAG>CAC	p.Q679H		NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	679	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GTGATTCCCTCTGGGACATCA	0.443		NaN											0	0	0	0.001523	0	21	37				
NOL6	65083	broad.mit.edu	37	9	33467733	33467733	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:33467733C>T	uc003zsz.2	-	12	1659	c.1558G>A	c.(1558-1560)GCT>ACT	p.A520T	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.A520T|NOL6_uc010mjv.2_Missense_Mutation_p.A517T|NOL6_uc011lob.1_Missense_Mutation_p.A468T|NOL6_uc003ztb.1_Missense_Mutation_p.A520T	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	520					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTCAGCCGAGCCCCCAGGCCC	0.647		NaN											0	0	0	0.000602	0	4	37				
DCAF12	25853	broad.mit.edu	37	9	34107359	34107359	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:34107359C>T	uc003ztt.2	-	3	880	c.538G>A	c.(538-540)GAT>AAT	p.D180N		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	180						centrosome|CUL4 RING ubiquitin ligase complex					0						AAACTTACATCTCCTACACAC	0.502		NaN											0	0	0	0.00632	0	29	73				
RG9MTD3	158234	broad.mit.edu	37	9	37776350	37776350	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:37776350C>T	uc004aai.2	+	8	869	c.792C>T	c.(790-792)GTC>GTT	p.V264V	RG9MTD3_uc011lqo.1_Silent_p.V213V|RG9MTD3_uc011lqp.1_Silent_p.V186V|RG9MTD3_uc011lqq.1_Silent_p.V153V|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Silent_p.V169V	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	264							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		AATACATGGTCAGAAACCAGA	0.428		NaN											0	0	0	0.008291	0	11	12				
MAMDC2	256691	broad.mit.edu	37	9	72840940	72840940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72840940G>C	uc004ahm.2	+	14	2670	c.2053G>C	c.(2053-2055)GAG>CAG	p.E685Q	MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	685						endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						AAATGAAATTGAGTATTAAGA	0.299		NaN											0	0	0	0.004482	0	7	16				
SMC5	23137	broad.mit.edu	37	9	72962046	72962046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72962046G>C	uc004ahr.2	+	20	2750	c.2633G>C	c.(2632-2634)AGA>ACA	p.R878T	SMC5_uc011lry.1_Missense_Mutation_p.R23T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	878					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						GAAAGATCAAGAGCTTCCTGC	0.418		NaN											0	0	0	0.004482	0	7	23				
C9orf95	54981	broad.mit.edu	37	9	77683978	77683978	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:77683978C>G	uc004aju.2	-	7	1028	c.430G>C	c.(430-432)GAT>CAT	p.D144H	C9orf95_uc004ajs.3_Missense_Mutation_p.D148H|C9orf95_uc004ajr.3_Missense_Mutation_p.D144H|C9orf95_uc004ajt.3_Missense_Mutation_p.D120H	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	144					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0						ACATGGCCATCAAAGTATCCC	0.413		NaN											0	0	0	0.003163	0	15	70				
GKAP1	80318	broad.mit.edu	37	9	86368211	86368211	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:86368211C>T	uc004amy.2	-	9	1298	c.802G>A	c.(802-804)GAA>AAA	p.E268K	GKAP1_uc004amz.2_Missense_Mutation_p.E217K	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	268	Potential.				signal transduction	Golgi apparatus					0						TTCTGGATTTCAGCATCTTTC	0.323		NaN											0	0	0	0.007413	0	19	55				
STX17	55014	broad.mit.edu	37	9	102722413	102722413	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:102722413C>T	uc004bal.3	+	6	694	c.558C>T	c.(556-558)GTC>GTT	p.V186V	STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	NM_017919	NP_060389	P56962	STX17_HUMAN	syntaxin 17	186	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCAACTGGTCACTGACTTCT	0.333		NaN											0	0	0	0.002445	0	29	71				
PTPN3	5774	broad.mit.edu	37	9	112144604	112144604	+	Missense_Mutation	SNP	C	C	T	rs147420952	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144604C>T	uc004bed.2	-	24	2618	c.2506G>A	c.(2506-2508)GAG>AAG	p.E836K	PTPN3_uc004beb.2_Missense_Mutation_p.E705K|PTPN3_uc004bec.2_Missense_Mutation_p.E660K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E791K|PTPN3_uc011lwh.1_Missense_Mutation_p.E682K|PTPN3_uc011lwd.1_Missense_Mutation_p.E304K|PTPN3_uc011lwe.1_Missense_Mutation_p.E549K|PTPN3_uc011lwf.1_Missense_Mutation_p.E504K	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	836	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AGGACGGGCTCGCTGTCCACT	0.537		NaN											0	0	0	0.00308	0	8	26				
PTPN3	5774	broad.mit.edu	37	9	112144707	112144707	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144707C>T	uc004bed.2	-	24	2515	c.2403G>A	c.(2401-2403)GTG>GTA	p.V801V	PTPN3_uc004beb.2_Silent_p.V670V|PTPN3_uc004bec.2_Silent_p.V625V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V756V|PTPN3_uc011lwh.1_Silent_p.V647V|PTPN3_uc011lwd.1_Silent_p.V269V|PTPN3_uc011lwe.1_Silent_p.V514V|PTPN3_uc011lwf.1_Silent_p.V469V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	801	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GGAGATGTGTCACTGTGTGTT	0.572		NaN											0	0	0	0.00245	0	14	34				
SUSD1	64420	broad.mit.edu	37	9	114904620	114904620	+	Missense_Mutation	SNP	G	G	A	rs113511367	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:114904620G>A	uc004bfu.2	-	5	727	c.686C>T	c.(685-687)TCC>TTC	p.S229F	SUSD1_uc010mui.2_Missense_Mutation_p.S229F|SUSD1_uc010muj.2_Missense_Mutation_p.S229F	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	229	Sushi 1.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						TAATTTTGGGGACTCCCATGT	0.418		NaN											0	0	0	0.00361	0	61	111				
PRPF4	9128	broad.mit.edu	37	9	116053935	116053935	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:116053935G>C	uc004bgx.2	+	14	1614	c.1564G>C	c.(1564-1566)GAA>CAA	p.E522Q	PRPF4_uc004bgy.2_Missense_Mutation_p.E521Q	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	522						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						GTGGATGGCTGAATAGATGAC	0.453		NaN											0	0	0	0.007413	0	20	17				
NR6A1	2649	broad.mit.edu	37	9	127289083	127289083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289083C>T	uc004bor.1	-	8	1354	c.1176G>A	c.(1174-1176)ATG>ATA	p.M392I	NR6A1_uc004boq.1_Missense_Mutation_p.M387I|NR6A1_uc010mwq.1_Missense_Mutation_p.M388I	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	392					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TAATTGCTTTCATGCAAGCAT	0.498		NaN											0	0	0	0.005524	0	35	99				
NR6A1	2649	broad.mit.edu	37	9	127289100	127289100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289100C>A	uc004bor.1	-	8	1337	c.1159G>T	c.(1159-1161)GAG>TAG	p.E387*	NR6A1_uc004boq.1_Nonsense_Mutation_p.E382*|NR6A1_uc010mwq.1_Nonsense_Mutation_p.E383*	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	387					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GCATACTCCTCGTTGCTGACC	0.498		NaN											1	0	1.07637e-12	0.004878	1.34313e-12	38	93				
MAPKAP1	79109	broad.mit.edu	37	9	128347847	128347847	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:128347847C>T	uc004bpv.2	-	5	991	c.658G>A	c.(658-660)GAG>AAG	p.E220K	MAPKAP1_uc011lzt.1_Missense_Mutation_p.E23K|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.E23K|MAPKAP1_uc011lzv.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bpw.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpx.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpy.2_Missense_Mutation_p.E220K|MAPKAP1_uc004bpz.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bqa.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxc.1_Missense_Mutation_p.E92K	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	220					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						AGCTTCGGCTCCCGTCCTTCG	0.542		NaN											0	0	0	0.001786	0	29	58				
ENG	2022	broad.mit.edu	37	9	130580997	130580997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130580997G>A	uc004bsj.3	-	11	1839	c.1426C>T	c.(1426-1428)CAG>TAG	p.Q476*	ENG_uc011mam.1_Nonsense_Mutation_p.Q287*|ENG_uc004bsk.3_Nonsense_Mutation_p.Q476*|uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	476	Ser/Thr-rich.|Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						CCAGGTACCTGCACAAAGCTC	0.612		NaN							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.00361	0	52	79				
LCN2	3934	broad.mit.edu	37	9	130914210	130914210	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130914210C>T	uc004bto.1	+	4	454	c.381C>T	c.(379-381)CTC>CTT	p.L127L	LCN2_uc011map.1_Silent_p.L127L	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	127					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						CGAGTTACCTCGTCCGAGTGG	0.567		NaN											0	0	0	0.005443	0	27	57				
CERCAM	51148	broad.mit.edu	37	9	131190687	131190687	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131190687C>T	uc004buz.3	+	6	1271	c.873C>T	c.(871-873)ATC>ATT	p.I291I	CERCAM_uc004buy.1_Silent_p.I213I|CERCAM_uc010mxz.2_Silent_p.I213I|CERCAM_uc010mya.1_Silent_p.I132I	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	291					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCCACCTGATCTTAGAAGCAC	0.612		NaN											0	0	0	0.000602	0	5	26				
SPTAN1	6709	broad.mit.edu	37	9	131369932	131369932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131369932G>T	uc004bvl.3	+	32	4209	c.4096G>T	c.(4096-4098)GAG>TAG	p.E1366*	SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1366*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1346*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1366	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GTCCTCAGATGAGCTAGCCAA	0.542		NaN											1	0	1.78839e-46	0.00361	2.29321e-46	73	94				
NUP188	23511	broad.mit.edu	37	9	131768878	131768878	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131768878C>G	uc004bws.1	+	44	5193	c.5171C>G	c.(5170-5172)TCT>TGT	p.S1724C		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1724					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						AAGTCCACCTCTCTCTCCAAA	0.637		NaN									OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003214	0	46	45				
TSC1	7248	broad.mit.edu	37	9	135776115	135776115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135776115G>C	uc004cca.2	-	20	2846	c.2612C>G	c.(2611-2613)TCA>TGA	p.S871*	TSC1_uc004ccb.3_Nonsense_Mutation_p.S870*|TSC1_uc011mcq.1_Nonsense_Mutation_p.S820*|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	871	Potential.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTGGTATCTGAGTGCTTGTT	0.527		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.00361	0	54	82		Valid		
RALGDS	5900	broad.mit.edu	37	9	135979668	135979668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135979668C>G	uc004cco.2	-	10	1673	c.1653G>C	c.(1651-1653)CAG>CAC	p.Q551H	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.Q539H|RALGDS_uc004ccr.2_Missense_Mutation_p.Q550H|RALGDS_uc011mcv.1_Missense_Mutation_p.Q522H|RALGDS_uc004ccs.2_Missense_Mutation_p.Q496H|RALGDS_uc011mcw.1_Missense_Mutation_p.Q622H|RALGDS_uc004ccv.1_Missense_Mutation_p.Q320H|RALGDS_uc004ccu.1_Missense_Mutation_p.Q320H	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	551	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGCCGTTTCTGGGCTCTCT	0.662		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								0	0	0	0.004007	0	16	34				
KCNT1	57582	broad.mit.edu	37	9	138657499	138657499	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:138657499G>A	uc011mdq.1	+	13	1304	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T	KCNT1_uc011mdr.1_Silent_p.T237T|KCNT1_uc010nbf.2_Silent_p.T365T|KCNT1_uc004cgo.1_Silent_p.T159T	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	410						membrane	binding|calcium-activated potassium channel activity	p.T410M(1)		large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGTGCCCCACGGAGATGGATG	0.657		NaN											0	0	0	0.000602	0	5	10				
NOTCH1	4851	broad.mit.edu	37	9	139390629	139390629	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139390629G>A	uc004chz.2	-	34	7562	c.7562C>T	c.(7561-7563)TCC>TTC	p.S2521F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2521	Poly-Ser.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.W2521*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACGAGCTGGACCACTGGTC	0.662		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.000978	0	8	33				
NPDC1	56654	broad.mit.edu	37	9	139937506	139937506	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139937506C>T	uc004ckt.2	-	2	367	c.132G>A	c.(130-132)GGG>GGA	p.G44G	NPDC1_uc004ckr.2_Silent_p.G44G|NPDC1_uc004cks.2_Silent_p.G122G|NPDC1_uc004cku.2_Silent_p.G44G	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	44						integral to membrane					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGTCCAGGCTCCCGGGACAGG	0.697		NaN											0	0	0	0.001168	0	4	23				
TLR7	51284	broad.mit.edu	37	X	12903875	12903875	+	Missense_Mutation	SNP	C	C	A	rs143823510		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:12903875C>A	uc004cvc.2	+	3	387	c.248C>A	c.(247-249)GCG>GAG	p.A83E		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	83	Extracellular (Potential).|LRR 2.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.A83A(1)		ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	ATCTCCCCAGCGTCCTTTCAC	0.483		NaN											1	0	1.46156e-29	0.00361	1.86582e-29	51	38				
REPS2	9185	broad.mit.edu	37	X	17040287	17040287	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17040287G>A	uc004cxv.1	+	3	610	c.439G>A	c.(439-441)GAG>AAG	p.E147K	REPS2_uc004cxw.1_Missense_Mutation_p.E147K|REPS2_uc011miw.1_Missense_Mutation_p.E7K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	147	EH 1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					GAATGATGGTGAGATACGATT	0.388		NaN											0	0	0	0.00361	0	107	57				
NHS	4810	broad.mit.edu	37	X	17744900	17744900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17744900C>G	uc004cxx.2	+	6	2949	c.2611C>G	c.(2611-2613)CTT>GTT	p.L871V	NHS_uc011mix.1_Missense_Mutation_p.L892V|NHS_uc004cxy.2_Missense_Mutation_p.L715V|NHS_uc004cxz.2_Missense_Mutation_p.L694V|NHS_uc004cya.2_Missense_Mutation_p.L594V	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	871						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					GAAGCTGCCTCTTGATTTCGC	0.473		NaN											0	0	0	0.006122	0	19	53				
FAM48B2	170067	broad.mit.edu	37	X	24329257	24329257	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:24329257C>T	uc011mjw.1	-	1	2176	c.2176G>A	c.(2176-2178)GCT>ACT	p.A726T		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	726	Gln-rich.										0						AACACAGCAGCCTGGGGCTGG	0.607		NaN											0	0	0	0.000602	0	5	2				
ZNF41	7592	broad.mit.edu	37	X	47307191	47307191	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:47307191C>T	uc004dhs.3	-	4	2171	c.2104G>A	c.(2104-2106)GAG>AAG	p.E702K	ZNF41_uc004dhu.3_Missense_Mutation_p.E694K|ZNF41_uc004dht.3_Missense_Mutation_p.E574K|ZNF41_uc004dhv.3_Missense_Mutation_p.E670K|ZNF41_uc004dhw.3_Missense_Mutation_p.E662K|ZNF41_uc004dhy.3_Missense_Mutation_p.E660K|ZNF41_uc004dhx.3_Missense_Mutation_p.E660K|ZNF41_uc011mlm.1_Missense_Mutation_p.E574K	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	702						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				TTGGGCTTCTCACCTGTGTGG	0.438		NaN											0	0	0	0.002836	0	33	42				
GPR173	54328	broad.mit.edu	37	X	53106214	53106214	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:53106214C>G	uc004dru.2	+	2	669	c.411C>G	c.(409-411)CTC>CTG	p.L137L		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	137	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GCATGACACTCTGGACATGCG	0.587		NaN											0	0	0	0.005443	0	28	14				
UBQLN2	29978	broad.mit.edu	37	X	56590553	56590553	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:56590553G>C	uc004dus.2	+	1	482	c.247G>C	c.(247-249)GAT>CAT	p.D83H	UBQLN2_uc011moq.1_Missense_Mutation_p.D83H	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	83	Ubiquitin-like.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						AATCTTAAAAGATCAAGATAC	0.483		NaN											0	0	0	0.008291	0	11	25				
MED12	9968	broad.mit.edu	37	X	70339888	70339888	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:70339888G>C	uc004dyy.2	+	4	620	c.421G>C	c.(421-423)GAG>CAG	p.E141Q	MED12_uc011mpq.1_Missense_Mutation_p.E141Q|MED12_uc004dyz.2_Missense_Mutation_p.E141Q|MED12_uc004dza.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	141					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TAAGAAGGAAGAGGTGTTTGG	0.468		NaN											0	0	0	0.004289	0	38	34				
ATRX	546	broad.mit.edu	37	X	76888758	76888758	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:76888758G>C	uc004ecp.3	-	19	5303	c.5071C>G	c.(5071-5073)CAA>GAA	p.Q1691E	ATRX_uc004ecq.3_Missense_Mutation_p.Q1653E|ATRX_uc004eco.3_Missense_Mutation_p.Q1476E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1691	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTCCTTCCTTGAGCAAGATTT	0.393		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.00361	0	168	127				
TGIF2LX	90316	broad.mit.edu	37	X	89177499	89177499	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:89177499G>A	uc004efe.2	+	2	464	c.415G>A	c.(415-417)GAG>AAG	p.E139K		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCAGAGCACCGAGGCGTCTGT	0.582		NaN											0	0	0	0.001786	0	30	33				
NOX1	27035	broad.mit.edu	37	X	100118475	100118475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100118475G>A	uc004egj.2	-	3	457	c.251C>T	c.(250-252)TCA>TTA	p.S84L	uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.S84L|NOX1_uc010nne.2_Intron	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	84	Cytoplasmic (Potential).|Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						GGGACTCACTGAGCAGGTGCC	0.532		NaN											0	0	0	0.00308	0	6	21				
TIMM8A	1678	broad.mit.edu	37	X	100603636	100603636	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100603636G>C	uc004ehd.2	-	1	322	c.17C>G	c.(16-18)TCT>TGT	p.S6C	TIMM8A_uc011mri.1_Missense_Mutation_p.S6C	NM_004085	NP_004076	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8	6					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding				0						CGCGGAGGAAGAGGAGGAGGA	0.607		NaN											0	0	0	0.00333	0	21	29				
RGAG1	57529	broad.mit.edu	37	X	109695911	109695911	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:109695911C>G	uc004eor.1	+	3	2312	c.2066C>G	c.(2065-2067)TCT>TGT	p.S689C	RGAG1_uc011msr.1_Missense_Mutation_p.S689C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	689										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCCACAGTCTCTGGAGGGATG	0.512		NaN											0	0	0	0.005443	0	26	21				
UTP14A	10813	broad.mit.edu	37	X	129058892	129058892	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:129058892G>C	uc004euz.2	+	12	1498	c.1470G>C	c.(1468-1470)GAG>GAC	p.E490D	UTP14A_uc011mup.1_Missense_Mutation_p.E438D|UTP14A_uc011muq.1_Missense_Mutation_p.E436D	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	490					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TCCAGAGAGAGGAACCTGCCC	0.478		NaN											0	0	0	0.005524	0	35	99				
HTATSF1	27336	broad.mit.edu	37	X	135593382	135593382	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:135593382G>T	uc004ezw.2	+	10	1900	c.1478G>T	c.(1477-1479)GGA>GTA	p.G493V	HTATSF1_uc004ezx.2_Missense_Mutation_p.G493V	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	493	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CCCGTAAGAGGATCTGAAGAG	0.443		NaN											1	0	1.99824e-07	0.00499	2.42619e-07	18	23				
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:151138714G>A	uc004ffi.2	-	2	271	c.217C>T	c.(217-219)CGC>TGC	p.R73C	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	73	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547		NaN											0	0	0	0.004656	0	24	101				
FLNA	2316	broad.mit.edu	37	X	153599343	153599343	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:153599343G>C	uc004fkk.2	-	2	520	c.271C>G	c.(271-273)CGC>GGC	p.R91G	FLNA_uc010nuu.1_Missense_Mutation_p.R91G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	91	CH 1.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGTGCTTGCGGTGCATCTTC	0.607		NaN											0	0	0	0.003163	0	14	9				
GNB1	2782	broad.mit.edu	37	1	1721920	1721920	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:1721920C>T	uc001aif.2	-	9	945	c.613G>A	c.(613-615)GAT>AAT	p.D205N	GNB1_uc009vky.2_Missense_Mutation_p.D105N	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	205	WD 4.				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGAAGCATCACAAGCACCA	0.562		NaN											0	0	0	0.004656	0	24	48				
WDR8	49856	broad.mit.edu	37	1	3548889	3548889	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:3548889A>G	uc001ako.2	-	10	1044	c.936T>C	c.(934-936)TCT>TCC	p.S312S	WDR8_uc001akn.3_Silent_p.S312S|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	312						centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGACTGGGACAGAGGCGATCT	0.537		NaN											0	0	0	0.008361	0	26	86				
CAMTA1	23261	broad.mit.edu	37	1	7806147	7806147	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:7806147A>G	uc001aoi.2	+	18	4820	c.4613A>G	c.(4612-4614)TAC>TGC	p.Y1538C	CAMTA1_uc001aok.3_Missense_Mutation_p.Y581C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y494C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y128C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCGGAAATACAAGGTAAAC	0.413		NaN											0	0	0	0.002299	0	22	67				
UBE4B	10277	broad.mit.edu	37	1	10239490	10239490	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:10239490C>G	uc001aqs.3	+	27	4430	c.3717C>G	c.(3715-3717)ACC>ACG	p.T1239T	UBE4B_uc001aqr.3_Silent_p.T1110T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T694T|UBE4B_uc001aqu.2_Silent_p.T120T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1239	U-box.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGATGGACACCCTCATGACAG	0.572		NaN											0	0	0	0.001882	0	21	109				
UBR4	23352	broad.mit.edu	37	1	19447716	19447716	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:19447716T>C	uc001bbi.2	-	68	10112	c.10108A>G	c.(10108-10110)AGC>GGC	p.S3370G	UBR4_uc001bbk.1_Missense_Mutation_p.S1017G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3370	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTTCTTGCTCTTTTTAGTG	0.473		NaN											0	0	0	0.003755	0	28	96				
NBPF3	84224	broad.mit.edu	37	1	21800042	21800042	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:21800042C>A	uc001ber.2	+	7	1254	c.904C>A	c.(904-906)CAT>AAT	p.H302N	NBPF3_uc001bes.2_Missense_Mutation_p.H246N|NBPF3_uc009vqb.2_Missense_Mutation_p.H302N|NBPF3_uc010odm.1_Missense_Mutation_p.H232N	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	302	NBPF 1.					cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCATCCTCTCATGATGAATG	0.448		NaN											1	0	3.31034e-53	0.00361	4.5162e-53	81	255				
USP48	84196	broad.mit.edu	37	1	22074634	22074634	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22074634T>A	uc001bfb.2	-	7	1143	c.905A>T	c.(904-906)GAC>GTC	p.D302V	USP48_uc010odq.1_Missense_Mutation_p.D302V|USP48_uc009vqc.2_Missense_Mutation_p.D302V|USP48_uc001bfc.2_Missense_Mutation_p.D302V|USP48_uc001bfe.1_Missense_Mutation_p.D302V|USP48_uc001bff.2_Missense_Mutation_p.D302V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	302					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATTTACCTGTCAAAGACAAA	0.363		NaN											0	0	0	0.008871	0	20	40				
HSPG2	3339	broad.mit.edu	37	1	22155497	22155497	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22155497T>A	uc001bfj.2	-	88	12108	c.12068A>T	c.(12067-12069)AAG>ATG	p.K4023M	HSPG2_uc001bfi.2_Missense_Mutation_p.K40M|HSPG2_uc009vqd.2_Missense_Mutation_p.K4024M	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4023	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCGTCCTTGTTGAGACG	0.701		NaN											0	0	0	0.004672	0	3	6				
HSPG2	3339	broad.mit.edu	37	1	22169324	22169324	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22169324C>A	uc001bfj.2	-	67	8889	c.8849G>T	c.(8848-8850)GGG>GTG	p.G2950V	HSPG2_uc009vqd.2_Missense_Mutation_p.G2951V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2950	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGGGCCTGCCCGGGCACCAC	0.657		NaN											1	0	1.13719e-10	0.008361	1.4475e-10	30	98				
MYOM3	127294	broad.mit.edu	37	1	24401849	24401849	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:24401849G>T	uc001bin.3	-	22	2981	c.2818C>A	c.(2818-2820)CTG>ATG	p.L940M	MYOM3_uc001bim.3_Missense_Mutation_p.L597M|MYOM3_uc001bio.2_Missense_Mutation_p.L940M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	940										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGGGGTCCAGTGGGCCCTTG	0.512		NaN											1	0	3.31993e-32	0.00361	4.48219e-32	53	146				
TMEM57	55219	broad.mit.edu	37	1	25810726	25810726	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:25810726T>G	uc001bkk.2	+	7	1476	c.1274T>G	c.(1273-1275)ATG>AGG	p.M425R	TMEM57_uc009vru.2_Missense_Mutation_p.M198R|TMEM57_uc009vrv.2_Missense_Mutation_p.M67R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	425						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGAAATGGGCCAGCTT	0.572		NaN											0	0	0	0.008871	0	21	94				
DHDDS	79947	broad.mit.edu	37	1	26786621	26786621	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26786621C>G	uc001bml.2	+	8	872	c.751C>G	c.(751-753)CAT>GAT	p.H251D	DHDDS_uc001bmk.2_Missense_Mutation_p.H251D|DHDDS_uc001bmm.2_Missense_Mutation_p.H158D|DHDDS_uc001bmn.2_Missense_Mutation_p.H212D|DHDDS_uc010ofd.1_Missense_Mutation_p.H217D	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	251							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGATGAACCATAGCGTGCT	0.493		NaN											0	0	0	0.002222	0	42	134				
RPS6KA1	6195	broad.mit.edu	37	1	26885394	26885394	+	Missense_Mutation	SNP	G	G	T	rs147534995		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26885394G>T	uc001bmr.1	+	14	1344	c.1181G>T	c.(1180-1182)CGT>CTT	p.R394L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R302L|RPS6KA1_uc010off.1_Missense_Mutation_p.R378L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R403L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R237L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	394					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGCAAGCCTCGTGCCCCGCAG	0.637		NaN											1	0	4.47668e-21	0.003954	5.93084e-21	24	55				
GRIK3	2899	broad.mit.edu	37	1	37267622	37267622	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37267622C>T	uc001caz.2	-	16	2725	c.2590G>A	c.(2590-2592)GAT>AAT	p.D864N		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	864	Cytoplasmic (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGATCTCATCGGCCACGGTG	0.582		NaN											0	0	0	0.001368	0	12	33				
ZC3H12A	80149	broad.mit.edu	37	1	37941247	37941247	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37941247G>T	uc001cbb.3	+	2	300	c.150G>T	c.(148-150)ATG>ATT	p.M50I		NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	50					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGCAGATGAAGGTGGACT	0.622		NaN											1	0	1.67942e-08	0.006122	2.09658e-08	17	64				
HEYL	26508	broad.mit.edu	37	1	40105218	40105218	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40105218C>G	uc001cdp.2	-	1	131	c.80G>C	c.(79-81)AGC>ACC	p.S27T		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	27					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCCTTACCTCAGCTGGCC	0.746		NaN											0	0	0	0.000602	0	5	13				
CAP1	10487	broad.mit.edu	37	1	40525127	40525127	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40525127A>C	uc001cfa.3	+	2	338	c.109A>C	c.(109-111)AAA>CAA	p.K37Q	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.K37Q|CAP1_uc001cez.3_Missense_Mutation_p.K37Q|CAP1_uc009vvz.2_Missense_Mutation_p.K37Q|CAP1_uc010oje.1_Missense_Mutation_p.Q6H	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	37					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCTTCAAAAGGTAAGCA	0.478		NaN											0	0	0	0.006122	0	19	52				
SCMH1	22955	broad.mit.edu	37	1	41493986	41493986	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:41493986G>T	uc001cgo.2	-	16	2174	c.1863C>A	c.(1861-1863)ATC>ATA	p.I621I	SCMH1_uc010ojr.1_Silent_p.I441I|SCMH1_uc001cgp.2_Silent_p.I560I|SCMH1_uc001cgr.2_Silent_p.I538I|SCMH1_uc001cgs.2_Silent_p.I609I|SCMH1_uc001cgt.2_Silent_p.I538I|SCMH1_uc001cgq.2_Silent_p.I552I	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	621	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTTGCCATCGATCTCCTGGG	0.597		NaN											1	0	1.10923e-09	0.00278	1.39145e-09	24	63				
EBNA1BP2	10969	broad.mit.edu	37	1	43636436	43636436	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:43636436C>T	uc001cin.2	-	4	635	c.438G>A	c.(436-438)CAG>CAA	p.Q146Q	EBNA1BP2_uc001cio.2_Silent_p.Q201Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q41Q|EBNA1BP2_uc010ojx.1_Silent_p.Q201Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	146	Potential.				ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTGCATCTGCAGATCAG	0.453		NaN											0	0	0	0.00361	0	48	180				
CCDC24	149473	broad.mit.edu	37	1	44461475	44461475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461475G>A	uc001clj.2	+	8	819	c.648G>A	c.(646-648)ATG>ATA	p.M216I	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.M171I|CCDC24_uc009vxc.2_Missense_Mutation_p.M180I	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	216	Potential.										0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGAAGGCCATGGAGCAGGAGC	0.557		NaN											0	0	0	0.00361	0	45	153				
CCDC24	149473	broad.mit.edu	37	1	44461719	44461719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461719C>T	uc001clj.2	+	9	982	c.811C>T	c.(811-813)CGA>TGA	p.R271*	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.F224F|CCDC24_uc009vxc.2_Nonsense_Mutation_p.R235*	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	271											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCCTACCTTCGACCTCGAGG	0.677		NaN											0	0	0	0.002222	0	44	84				
NASP	4678	broad.mit.edu	37	1	46072194	46072194	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:46072194C>A	uc001coi.1	+	5	442	c.340C>A	c.(340-342)CAT>AAT	p.H114N	NASP_uc010olq.1_Missense_Mutation_p.H77N|NASP_uc001coh.1_Missense_Mutation_p.H116N|NASP_uc001coj.1_Missense_Mutation_p.H114N|NASP_uc010olr.1_Missense_Mutation_p.H50N|NASP_uc001cok.1_5'UTR	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	114	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAAGGTGTGCATGTGGAAGA	0.393		NaN											1	0	1.36565e-18	0.00278	1.79399e-18	22	62				
ELAVL4	1996	broad.mit.edu	37	1	50661283	50661283	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:50661283G>A	uc001csb.2	+	5	827	c.559G>A	c.(559-561)GAA>AAA	p.E187K	ELAVL4_uc001cry.3_Missense_Mutation_p.E190K|ELAVL4_uc001crz.3_Missense_Mutation_p.E187K|ELAVL4_uc001csa.3_Missense_Mutation_p.E204K|ELAVL4_uc001csc.3_Missense_Mutation_p.E187K|ELAVL4_uc009vyu.2_Missense_Mutation_p.E192K|ELAVL4_uc010omz.1_Missense_Mutation_p.E192K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	187	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GATTGAGGCAGAAGAAGCCAT	0.522		NaN											0	0	0	0.002222	0	41	108				
PRPF38A	84950	broad.mit.edu	37	1	52874277	52874277	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:52874277G>C	uc001ctv.3	+	3	530	c.327G>C	c.(325-327)CTG>CTC	p.L109L	PRPF38A_uc001ctw.3_Intron	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	109					mRNA processing|RNA splicing	spliceosomal complex					0						ACATGAGGCTGACAGGCACTG	0.453		NaN											0	0	0	0.001882	0	22	76				
HOOK1	51361	broad.mit.edu	37	1	60309252	60309252	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:60309252T>C	uc009wad.2	+	10	872	c.770T>C	c.(769-771)TTA>TCA	p.L257S	HOOK1_uc001czo.2_Missense_Mutation_p.L257S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.L215S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	257	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					CTAGAACAATTACAGGAAGAA	0.323		NaN											0	0	0	0.00245	0	15	45				
LRRC7	57554	broad.mit.edu	37	1	70504742	70504742	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:70504742G>A	uc001dep.2	+	19	3151	c.3121G>A	c.(3121-3123)GAA>AAA	p.E1041K	LRRC7_uc009wbg.2_Missense_Mutation_p.E325K|LRRC7_uc001deq.2_Missense_Mutation_p.E282K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1041						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGGATCAGTGGAAGTGAAAGC	0.448		NaN											0	0	0	0.001368	0	13	48				
FPGT	8790	broad.mit.edu	37	1	74670826	74670826	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:74670826T>C	uc001dgb.1	+	4	1132	c.1095T>C	c.(1093-1095)TAT>TAC	p.Y365Y	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	365					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						CCGAAGAATATTTGTTTTACT	0.328		NaN											0	0	0	0.002299	0	21	58				
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:77509952C>G	uc001dhi.2	+	3	500	c.325C>G	c.(325-327)CGG>GGG	p.R109G	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	109	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						GCTGCACAGTCGGCAAGGCTC	0.617		NaN											0	0	0	0.00499	0	16	69				
USP33	23032	broad.mit.edu	37	1	78177467	78177467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:78177467T>A	uc001dht.2	-	22	2811	c.2464A>T	c.(2464-2466)AAA>TAA	p.K822*	USP33_uc001dhs.2_Nonsense_Mutation_p.K543*|USP33_uc001dhu.2_Nonsense_Mutation_p.K791*|USP33_uc001dhv.2_Nonsense_Mutation_p.K627*|USP33_uc001dhw.2_Nonsense_Mutation_p.K814*	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	822	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTTCTTCTTTTTTCAATTTTC	0.328		NaN											0	0	0	0.001882	0	22	59				
OVGP1	5016	broad.mit.edu	37	1	111966296	111966296	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:111966296C>G	uc001eba.2	-	5	408	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	OVGP1_uc001eaz.2_Missense_Mutation_p.E80Q|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.E108Q	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	118					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATAAACTTTTCACGGTTGGCA	0.458		NaN											0	0	0	0.002299	0	20	72				
MAGI3	260425	broad.mit.edu	37	1	114196636	114196636	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:114196636A>G	uc001edk.2	+	15	2806	c.2625A>G	c.(2623-2625)CCA>CCG	p.P875P	MAGI3_uc001edh.3_Silent_p.P900P|MAGI3_uc001edi.3_Silent_p.P875P|MAGI3_uc010owm.1_Silent_p.P900P|MAGI3_uc001edj.2_Silent_p.P596P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	900	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCACCTCCAGGAGGTAAGG	0.443		NaN											0	0	0	0.00361	0	71	185				
CD101	9398	broad.mit.edu	37	1	117559992	117559992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:117559992C>G	uc010oxb.1	+	5	1567	c.1509C>G	c.(1507-1509)ATC>ATG	p.I503M	CD101_uc009whd.2_Missense_Mutation_p.I503M|CD101_uc010oxc.1_Missense_Mutation_p.I503M|CD101_uc010oxd.1_Missense_Mutation_p.I441M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	503	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCACTGCCATCACAGACAGTG	0.517		NaN											0	0	0	0.008361	0	30	88				
WDR3	10885	broad.mit.edu	37	1	118486119	118486119	+	Missense_Mutation	SNP	A	A	G	rs141364091	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118486119A>G	uc010oxe.1	+	11	1264	c.1198A>G	c.(1198-1200)ACT>GCT	p.T400A	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	400						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATCCTTGCCTACTCCTCAGCC	0.473		NaN											0	0	0	0.004672	0	3	100				
SPAG17	200162	broad.mit.edu	37	1	118506543	118506543	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118506543T>C	uc001ehk.2	-	48	6619	c.6551A>G	c.(6550-6552)AAT>AGT	p.N2184S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2184						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTATCATAATTGCTGCTTGT	0.333		NaN											0	0	0	0.00623	0	35	108				
NOTCH2	4853	broad.mit.edu	37	1	120462024	120462024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:120462024C>T	uc001eik.2	-	31	5948	c.5692G>A	c.(5692-5694)GAT>AAT	p.D1898N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1898	Cytoplasmic (Potential).|ANK 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACCTGCATCCAGGAGACGC	0.617		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.003954	0	25	88				
ITGA10	8515	broad.mit.edu	37	1	145541826	145541826	+	Missense_Mutation	SNP	C	C	T	rs140404631		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:145541826C>T	uc001eoa.2	+	29	3425	c.3349C>T	c.(3349-3351)CGG>TGG	p.R1117W	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R986W|ITGA10_uc009wiw.2_Missense_Mutation_p.R974W|ITGA10_uc010oyw.1_Missense_Mutation_p.R1024W	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	1117	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCAGACCCGGCCTATCCT	0.532		NaN											0	0	0	0.004878	0	34	111				
FCGR1A	2209	broad.mit.edu	37	1	149762804	149762804	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:149762804C>T	uc001esp.3	+	6	906	c.856C>T	c.(856-858)CCA>TCA	p.P286S	HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor	286	Extracellular (Potential).				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCAGTTACCAACTCCTGT	0.423		NaN											0	0	0	0.003271	0	23	64				
HORMAD1	84072	broad.mit.edu	37	1	150679028	150679028	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150679028C>A	uc001evk.1	-	10	910	c.804_splice	c.e10+1	p.S268_splice	HORMAD1_uc001evl.1_Splice_Site_p.S261_splice|HORMAD1_uc001evm.1_Splice_Site_p.S188_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATACACTTACACTTGTATAA	0.294		NaN											1	0	6.31663e-08	0.003163	7.82298e-08	13	106				
PRUNE	58497	broad.mit.edu	37	1	150990968	150990968	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150990968T>G	uc001ewh.1	+	3	294	c.158T>G	c.(157-159)GTG>GGG	p.V53G	PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	53						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGTCTTTGTGCCAGTTTTA	0.383		NaN											0	0	0	0.00361	0	47	234				
C1orf56	54964	broad.mit.edu	37	1	151020344	151020344	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:151020344G>A	uc001ewn.2	+	1	86	c.21G>A	c.(19-21)GCG>GCA	p.A7A		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	7						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGCCGGCGCGCTGCTGTGGG	0.687		NaN											0	0	0	0.00308	0	8	29				
KRTCAP2	200185	broad.mit.edu	37	1	155145217	155145217	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155145217G>A	uc001fho.2	-	2	260	c.234C>T	c.(232-234)CTC>CTT	p.L78L	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Silent_p.L78L|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	78	Helical; (Potential).					integral to membrane					0	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATACAGTGAGCGAGAACA	0.617		NaN											0	0	0	0.00245	0	13	32				
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247568C>T	uc001fjz.1	+	1	195	c.187C>T	c.(187-189)CGG>TGG	p.R63W	RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	63	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622		NaN											0	0	0	0.001368	0	10	20				
HCN3	57657	broad.mit.edu	37	1	155247576	155247576	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247576C>T	uc001fjz.1	+	1	203	c.195C>T	c.(193-195)TTC>TTT	p.F65F	RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	65	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCGGGTGTTCGGCAGCCACA	0.622		NaN											0	0	0	0.001368	0	11	18				
ASH1L	55870	broad.mit.edu	37	1	155490915	155490915	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155490915C>T	uc009wqq.2	-	2	876	c.396G>A	c.(394-396)AAG>AAA	p.K132K	ASH1L_uc001fkt.2_Silent_p.K132K|ASH1L_uc009wqr.1_Silent_p.K132K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	132					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGTTCATTCTTTTCATCCG	0.333		NaN											0	0	0	0.00361	0	78	271				
SYT11	23208	broad.mit.edu	37	1	155838178	155838178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838178G>C	uc001fmg.2	+	2	720	c.457G>C	c.(457-459)GAG>CAG	p.E153Q	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	153	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCATCTCCAGAGGAGGATGT	0.517		NaN											0	0	0	0.00361	0	47	139				
SYT11	23208	broad.mit.edu	37	1	155838197	155838197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838197G>A	uc001fmg.2	+	2	739	c.476G>A	c.(475-477)GGA>GAA	p.G159E	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	159	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTCATGCTAGGATCCCTCACC	0.537		NaN											0	0	0	0.00623	0	41	122				
SLC25A44	9673	broad.mit.edu	37	1	156180072	156180072	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156180072G>A	uc001fnp.2	+	4	1117	c.795G>A	c.(793-795)CTG>CTA	p.L265L	SLC25A44_uc010phc.1_Silent_p.L156L|SLC25A44_uc009wrr.2_Silent_p.L273L|SLC25A44_uc010phd.1_RNA|SLC25A44_uc010phe.1_RNA|PMF1_uc009wru.1_5'Flank|PMF1_uc001fnq.2_5'Flank|PMF1_uc001fnr.2_5'Flank|BGLAP_uc001fns.1_5'Flank	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	265	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					TCAGACAGCTGATGGCAGAAG	0.547		NaN											0	0	0	0.003271	0	34	69				
APOA1BP	128240	broad.mit.edu	37	1	156561602	156561602	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156561602C>T	uc001fph.2	+	1	45	c.6C>T	c.(4-6)TCC>TCT	p.S2S	APOA1BP_uc001fpg.2_Silent_p.S2S|APOA1BP_uc001fpi.2_Silent_p.S2S|APOA1BP_uc001fpj.2_5'UTR|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	2						extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGATGTCCAGGCTGCGGG	0.612		NaN											0	0	0	0.004672	0	3	14				
SH2D2A	9047	broad.mit.edu	37	1	156779017	156779017	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156779017G>T	uc001fqd.2	-	7	1120	c.980C>A	c.(979-981)TCC>TAC	p.S327Y	SH2D2A_uc001fqc.1_Missense_Mutation_p.S299Y|SH2D2A_uc009wsh.2_Missense_Mutation_p.S337Y|SH2D2A_uc001fqe.2_Missense_Mutation_p.S309Y|SH2D2A_uc010phs.1_Missense_Mutation_p.S327Y	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	327	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACAGGCCTGGACCAGCTCTT	0.602		NaN											1	0	3.82633e-55	0.00361	5.22931e-55	95	240				
CD1E	913	broad.mit.edu	37	1	158326312	158326312	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:158326312T>G	uc001fse.2	+	5	1168	c.929T>G	c.(928-930)CTG>CGG	p.L310R	CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Silent_p.P275P|CD1E_uc001fsk.2_Missense_Mutation_p.L220R|CD1E_uc001fsj.2_Missense_Mutation_p.L165R|CD1E_uc001fsc.2_Missense_Mutation_p.L121R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L66R|CD1E_uc001fsf.2_Missense_Mutation_p.L310R|CD1E_uc001fry.2_Missense_Mutation_p.L255R|CD1E_uc001fsg.2_Silent_p.P86P|CD1E_uc001fsh.2_Missense_Mutation_p.L121R|CD1E_uc001fsi.2_Silent_p.P275P|CD1E_uc009wsv.2_Missense_Mutation_p.L211R|CD1E_uc001frz.2_Missense_Mutation_p.L220R|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	310	Helical; (Potential).				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TTTCTCATCCTGATCTGTTTG	0.393		NaN											0	0	0	0.000978	0	11	37				
PPOX	5498	broad.mit.edu	37	1	161140930	161140930	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161140930A>C	uc001fyj.2	+	13	1688	c.1398A>C	c.(1396-1398)GCA>GCC	p.A466A	PPOX_uc001fyn.2_Silent_p.A174A|PPOX_uc001fyg.2_Silent_p.A466A|PPOX_uc001fyl.2_Silent_p.A432A|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.A304A|PPOX_uc001fyh.2_Silent_p.A304A|PPOX_uc010pkg.1_Silent_p.A304A|PPOX_uc009wuc.1_Silent_p.A267A|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	466					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCGCCAGGCAGCAGTCAGTG	0.512		NaN							Porphyria_Variegata				0	0	0	0.002852	0	40	174				
NR1I3	9970	broad.mit.edu	37	1	161201118	161201118	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161201118C>A	uc001fzx.2	-	6	897	c.694_splice	c.e6+1	p.V232_splice	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Splice_Site_p.V232_splice|NR1I3_uc001fzg.2_Splice_Site_p.V203_splice|NR1I3_uc001fzh.2_Splice_Site_p.V203_splice|NR1I3_uc001fzi.2_Splice_Site_p.V203_splice|NR1I3_uc001fzj.2_Splice_Site_p.V203_splice|NR1I3_uc001fzk.2_Splice_Site_p.D203_splice|NR1I3_uc001fzl.2_Splice_Site_p.D203_splice|NR1I3_uc001fzm.2_Splice_Site_p.V157_splice|NR1I3_uc001fzn.2_Splice_Site_p.D65_splice|NR1I3_uc009wug.2_Splice_Site_p.V65_splice|NR1I3_uc001fzp.2_Splice_Site_p.V232_splice|NR1I3_uc001fzo.2_Splice_Site_p.V65_splice|NR1I3_uc001fzq.2_Splice_Site_p.V128_splice|NR1I3_uc001fzr.2_Splice_Site_p.V128_splice|NR1I3_uc001fzs.2_Splice_Site_p.D65_splice|NR1I3_uc001fzt.2_Splice_Site_p.D65_splice|NR1I3_uc001fzu.2_Splice_Site_p.V99_splice|NR1I3_uc001fzv.2_Splice_Site_p.V99_splice|NR1I3_uc001fzw.2_Splice_Site_p.V232_splice|NR1I3_uc001fzy.2_Splice_Site_p.V232_splice|NR1I3_uc001fzz.2_Splice_Site_p.A232_splice|NR1I3_uc001gaa.2_Splice_Site_p.D232_splice|NR1I3_uc001gab.2_Splice_Site_p.D232_splice|NR1I3_uc001gac.2_Splice_Site_p.V203_splice|NR1I3_uc010pkm.1_Splice_Site_p.V203_splice|NR1I3_uc010pkn.1_Missense_Mutation_p.G232V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCATCTCACCACGGGCTCC	0.507		NaN											1	0	6.32553e-13	0.004656	8.10459e-13	23	102				
TNN	63923	broad.mit.edu	37	1	175086247	175086247	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:175086247G>A	uc001gkl.1	+	10	2405	c.2292G>A	c.(2290-2292)CTG>CTA	p.L764L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	764	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTGTCCTGACGGGCCTGA	0.637		NaN											0	0	0	0.00632	0	27	95				
CEP350	9857	broad.mit.edu	37	1	179989993	179989993	+	Silent	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:179989993C>A	uc001gnt.2	+	12	3467	c.3084C>A	c.(3082-3084)ATC>ATA	p.I1028I	CEP350_uc009wxl.2_Silent_p.I1027I|CEP350_uc001gnu.2_Silent_p.I862I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1028						centrosome|nucleus|spindle				ovary(4)	4						ATGAACCCATCAAAGAGTTTC	0.403		NaN											1	0	1.33834e-09	0.007413	1.67615e-09	18	46				
DHX9	1660	broad.mit.edu	37	1	182845362	182845362	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:182845362A>G	uc001gpr.2	+	17	2156	c.1993A>G	c.(1993-1995)ACT>GCT	p.T665A	DHX9_uc001gps.2_Missense_Mutation_p.T451A	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	665	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TCTGATTTATACTATGCAGAA	0.373		NaN											0	0	0	0.002522	0	43	126				
PTGS2	5743	broad.mit.edu	37	1	186648486	186648486	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:186648486C>A	uc001gsb.2	-	2	274	c.137G>T	c.(136-138)CGG>CTG	p.R46L	PTGS2_uc009wyo.2_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	46	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAATCCTGTCCGGGTACAATC	0.438		NaN											1	0	4.4004e-07	0.00333	5.43251e-07	24	55				
CFH	3075	broad.mit.edu	37	1	196712595	196712595	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:196712595G>A	uc001gtj.3	+	20	3387	c.3147G>A	c.(3145-3147)GTG>GTA	p.V1049V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1049	Sushi 18.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCTCCTGTGTGAATCCGCCCA	0.373		NaN											0	0	0	0.002299	0	22	115				
BTG2	7832	broad.mit.edu	37	1	203276382	203276382	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:203276382G>C	uc001gzq.2	+	2	364	c.293G>C	c.(292-294)AGC>ACC	p.S98T	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	98					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTGCTGCCCAGCGAGCTGACC	0.642		NaN											0	0	0	0.004007	0	17	80		Valid		
KLHDC8A	55220	broad.mit.edu	37	1	205312535	205312535	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:205312535G>C	uc001hcf.1	-	2	766	c.198C>G	c.(196-198)CCC>CCG	p.P66P	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.P66P	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	66	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCGGGCTGTGGGCAGCCGGG	0.677		NaN											0	0	0	0.006999	0	39	94				
SRGAP2	23380	broad.mit.edu	37	1	206628299	206628299	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628299G>A	uc001hdy.2	+	18	2508	c.2175G>A	c.(2173-2175)GTG>GTA	p.V725V	SRGAP2_uc001hdx.2_Silent_p.V725V|SRGAP2_uc010pru.1_Silent_p.V648V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	812					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					AAGAAAAGGTGACAGCCAGAG	0.552		NaN											0	0	0	0.003755	0	35	87				
SRGAP2	23380	broad.mit.edu	37	1	206628307	206628307	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628307G>T	uc001hdy.2	+	18	2516	c.2183G>T	c.(2182-2184)AGA>ATA	p.R728I	SRGAP2_uc001hdx.2_Missense_Mutation_p.R728I|SRGAP2_uc010pru.1_Missense_Mutation_p.R651I	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	815					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GTGACAGCCAGAGCGGGGGCC	0.537		NaN											1	0	1.58521e-26	0.005524	2.12543e-26	38	91				
TLR5	7100	broad.mit.edu	37	1	223285245	223285245	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:223285245C>T	uc001hnv.1	-	4	1575	c.1129G>A	c.(1129-1131)GAC>AAC	p.D377N	TLR5_uc001hnw.1_Missense_Mutation_p.D377N	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	377	Extracellular (Potential).|LRR 8.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AATGTTTGGTCTTGAATTATT	0.368		NaN											0	0	0	0.00278	0	25	88				
C1orf69	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:228362831G>C	uc001hsl.3	+	3	777	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	C1orf69_uc010pvw.1_Missense_Mutation_p.E37Q	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	230					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AGGCGTTCCTGAGGGGGTCCG	0.627		NaN											0	0	0	0.007291	0	28	83				
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:231342533G>A	uc009xfn.1	+	7	1858	c.1816G>A	c.(1816-1818)GAT>AAT	p.D606N		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	606	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGACATCCGATGGTGAGCA	0.502		NaN											0	0	0	0.00499	0	15	35				
CNST	163882	broad.mit.edu	37	1	246810471	246810471	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:246810471G>T	uc001ibp.2	+	9	1346	c.968G>T	c.(967-969)AGT>ATT	p.S323I	CNST_uc001ibo.3_Missense_Mutation_p.S323I	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	323					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ACAGAGTCAAGTAAAGAAAGC	0.428		NaN									OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.5548e-18	0.005443	2.03561e-18	24	85				
OR2G2	81470	broad.mit.edu	37	1	247752379	247752379	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247752379G>A	uc010pyy.1	+	1	718	c.718G>A	c.(718-720)GCA>ACA	p.A240T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGACAGAAAGCATTCGGGAC	0.393		NaN											0	0	0	0.00632	0	28	93				
OR2G3	81469	broad.mit.edu	37	1	247769738	247769738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247769738C>T	uc010pyz.1	+	1	851	c.851C>T	c.(850-852)ACT>ATT	p.T284I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGACCCCCACTTTAAATCCT	0.433		NaN											0	0	0	0.005443	0	26	98				
OR11L1	391189	broad.mit.edu	37	1	248004726	248004726	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248004726A>T	uc001idn.1	-	1	473	c.473T>A	c.(472-474)CTG>CAG	p.L158Q		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGGAAGGCAGAAAGCCTGT	0.577		NaN											0	0	0	0.002836	0	33	103				
TRIM58	25893	broad.mit.edu	37	1	248020677	248020677	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248020677C>T	uc001ido.2	+	1	177	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	43	RING-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTCCGAGTTCTGCGAGAAGT	0.711		NaN											0	0	0	0.00308	0	6	14				
VIM	7431	broad.mit.edu	37	10	17275816	17275816	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:17275816C>T	uc001iou.2	+	5	1181	c.768C>T	c.(766-768)ATC>ATT	p.I256I	VIM_uc001iov.1_Silent_p.I256I|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.I256I|VIM_uc001ioy.1_Silent_p.I256I|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.I256I|VIM_uc001ipc.1_Silent_p.I256I	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	256	Rod.|Linker 12.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATGTCCAAATCGATGTGGATG	0.537		NaN											0	0	0	0.00361	0	64	91				
SLC39A12	221074	broad.mit.edu	37	10	18242459	18242459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:18242459G>A	uc001ipo.2	+	2	527	c.254G>A	c.(253-255)TGC>TAC	p.C85Y	SLC39A12_uc001ipn.2_Missense_Mutation_p.C85Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.C85Y|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	85	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CAAGGAGATTGCAATCTGGTT	0.453		NaN											0	0	0	0.00632	0	29	63				
YME1L1	10730	broad.mit.edu	37	10	27415685	27415685	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:27415685C>A	uc001iti.2	-	10	1242	c.1060G>T	c.(1060-1062)GTT>TTT	p.V354F	YME1L1_uc001itj.2_Missense_Mutation_p.V297F|YME1L1_uc010qdl.1_Missense_Mutation_p.V264F|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	354					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						AATTCAACAACTTCCTGTAAT	0.318		NaN											1	0	8.12818e-05	0.001984	9.90901e-05	7	45				
GPRIN2	9721	broad.mit.edu	37	10	46999257	46999257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:46999257G>A	uc001jec.2	+	3	512	c.377G>A	c.(376-378)CGT>CAT	p.R126H	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	126											0						GACCTGGTCCGTAGCACCCAG	0.642		NaN											0	0	0	0.00308	0	8	55				
C10orf53	282966	broad.mit.edu	37	10	50916482	50916482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:50916482G>C	uc001jid.1	+	3	353	c.293G>C	c.(292-294)TGT>TCT	p.C98S		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	Error:Variant_position_missing_in_Q8N6V4_after_alignment											0		all_neural(218;0.107)				agcagcccgtgtaggatgaaa	0		NaN											0	0	0	0.00361	0	65	151				
HK1	3098	broad.mit.edu	37	10	71129055	71129055	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:71129055C>T	uc001jpl.3	+	6	755	c.654C>T	c.(652-654)GGC>GGT	p.G218G	HK1_uc001jpg.3_Silent_p.G206G|HK1_uc001jph.3_Silent_p.G222G|HK1_uc001jpi.3_Silent_p.G222G|HK1_uc001jpj.3_Silent_p.G253G|HK1_uc001jpk.3_Silent_p.G217G|HK1_uc009xqd.2_Silent_p.G96G	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	218	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGACCTGTGGCTATGACGACC	0.537		NaN											0	0	0	0.002299	0	18	58				
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:75609037G>A	uc001jvv.1	-	6	496	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	132	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CCCTGTGGACGATGTCATGCT	0.522		NaN									OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978	0	11	40				
PIK3AP1	118788	broad.mit.edu	37	10	98380234	98380234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:98380234G>A	uc001kmq.2	-	12	1944	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	PIK3AP1_uc001kmo.2_Missense_Mutation_p.R205W|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R428W	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	606						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATAAGCTGCCGCTGGCCTGGC	0.562		NaN											0	0	0	0.00361	0	54	77				
CHUK	1147	broad.mit.edu	37	10	101953102	101953102	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:101953102T>G	uc001kqp.2	-	19	2116	c.2061A>C	c.(2059-2061)TCA>TCC	p.S687S		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	687				TS -> DL (in Ref. 7; AAC50713).	I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CATGTTCTGCTGAAGTCGGGG	0.473		NaN											0	0	0	0.00623	0	39	95				
MGEA5	10724	broad.mit.edu	37	10	103558904	103558904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:103558904C>T	uc001ktv.2	-	9	1947	c.1504G>A	c.(1504-1506)GAT>AAT	p.D502N	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.D449N|MGEA5_uc009xws.2_Missense_Mutation_p.D449N|MGEA5_uc001ktw.2_Missense_Mutation_p.D502N|MGEA5_uc009xwt.2_Missense_Mutation_p.D265N	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	502					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCTTTATCAGTGTCCATT	0.398		NaN											0	0	0	0.00361	0	96	287				
NT5C2	22978	broad.mit.edu	37	10	104858711	104858711	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:104858711G>T	uc001kwo.2	-	10	850	c.664C>A	c.(664-666)CTT>ATT	p.L222I	NT5C2_uc010qqp.1_Missense_Mutation_p.L193I|NT5C2_uc001kwq.2_Missense_Mutation_p.L222I|NT5C2_uc001kwp.2_Missense_Mutation_p.L69I	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	222					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACTTCTCAAGATTTTCAACT	0.294		NaN											1	0	9.70103e-10	0.008291	1.21889e-09	9	27				
PCGF6	84108	broad.mit.edu	37	10	105110683	105110683	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105110683A>C	uc001kwt.2	-	1	209	c.141T>G	c.(139-141)CCT>CCG	p.P47P	PCGF6_uc001kwu.2_Silent_p.P47P|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	47	Pro-rich.				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTCAGACAGAGGCGCCGGTC	0.522		NaN											0	0	0	0.000602	0	5	9				
PNLIPRP3	119548	broad.mit.edu	37	10	118187433	118187433	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:118187433G>A	uc001lcl.3	+	1	10	c.-91G>A	c.(-93--89)TTGTG>TTATG			NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor						lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TTGCATCATTGTGAGGAAAAC	0.323		NaN											0	0	0	0.001984	0	6	31				
TACC2	10579	broad.mit.edu	37	10	123844863	123844863	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:123844863G>A	uc001lfv.2	+	4	3208	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E950K|TACC2_uc010qtv.1_Missense_Mutation_p.E950K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	950						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAGCGGCCAGAGGGAGCATG	0.522		NaN											0	0	0	0.007835	0	39	109				
C11orf35	256329	broad.mit.edu	37	11	556086	556086	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:556086C>T	uc001lpx.2	-	11	1350	c.1287G>A	c.(1285-1287)AAG>AAA	p.K429K	uc001lpy.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	429										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCGGCTTCTTGGCGCTGC	0.587		NaN											0	0	0	0.006214	0	10	10				
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:26586972G>A	uc001mqx.2	-	2	700	c.434C>T	c.(433-435)TCT>TTT	p.S145F	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172F|MUC15_uc001mqy.2_Missense_Mutation_p.S172F	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	145	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTGAAGACAGAGCAGG	0.428		NaN											0	0	0	0.004289	0	35	92				
LIN7C	55327	broad.mit.edu	37	11	27523109	27523109	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:27523109T>C	uc001mrl.2	-	3	188	c.161A>G	c.(160-162)TAT>TGT	p.Y54C	LIN7C_uc009yii.2_Intron	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	54	L27.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						GACATGTTCATATACCTGTAA	0.348		NaN											0	0	0	0.003271	0	33	56				
TCP11L1	55346	broad.mit.edu	37	11	33083105	33083105	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:33083105G>C	uc001mud.2	+	7	1205	c.805G>C	c.(805-807)GAA>CAA	p.E269Q	TCP11L1_uc009yju.2_Missense_Mutation_p.E84Q|TCP11L1_uc010rei.1_Missense_Mutation_p.E269Q|TCP11L1_uc001mue.2_Missense_Mutation_p.E269Q|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	269											0						CCAGTGGCTGGAAGAAGCCTC	0.527		NaN											0	0	0	0.001523	0	21	38				
CAPRIN1	4076	broad.mit.edu	37	11	34110948	34110948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:34110948C>G	uc001mvh.1	+	12	1427	c.1238C>G	c.(1237-1239)TCT>TGT	p.S413C	CAPRIN1_uc001mvg.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S332C	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	413					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGTTCATTCTGAATCTAGA	0.313		NaN											0	0	0	0.007291	0	26	49				
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:44331236C>T	uc001myb.2	-	1	481	c.377G>A	c.(376-378)CGA>CAA	p.R126Q		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	126					hair follicle development						0						GCAGGCGCCTCGCTGCAAGTA	0.473		NaN											0	0	0	0.000602	0	5	15				
LRP4	4038	broad.mit.edu	37	11	46895138	46895138	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46895138T>C	uc001ndn.3	-	29	4382	c.4236A>G	c.(4234-4236)GCA>GCG	p.A1412A	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1412	Extracellular (Potential).|LDL-receptor class B 16.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CGTTCAGGTCTGCTCGCCTTG	0.532		NaN											0	0	0	0.002522	0	42	94				
DDB2	1643	broad.mit.edu	37	11	47237917	47237917	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:47237917T>C	uc001neb.2	+	2	353	c.158T>C	c.(157-159)CTC>CCC	p.L53P	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L53P|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L53P|DDB2_uc001nef.2_Missense_Mutation_p.L39P|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_5'Flank	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	53					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TCAGACTGCCTCTGGGTGGGG	0.557		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.00361	0	50	148				
OR5AS1	219447	broad.mit.edu	37	11	55798060	55798060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:55798060C>T	uc010riw.1	+	1	166	c.166C>T	c.(166-168)CAA>TAA	p.Q56*		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TTCAAGCCTTCAAATTCCCAT	0.343		NaN											0	0	0	0.004007	0	15	55				
MS4A2	2206	broad.mit.edu	37	11	59863129	59863129	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:59863129A>C	uc001nop.2	+	7	837	c.735A>C	c.(733-735)TAA>TAC	p.*245Y		NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	245					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTGATTTATAAGAATCACGTG	0.428		NaN											0	0	0	0.008291	0	10	30				
ZP1	22917	broad.mit.edu	37	11	60636673	60636673	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60636673C>T	uc001nqd.2	+	2	272	c.252C>T	c.(250-252)GTC>GTT	p.V84V	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	84	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						ACCACTGGGTCACCTCCAGGC	0.587		NaN											0	0	0	0.002299	0	20	41				
CD5	921	broad.mit.edu	37	11	60889102	60889102	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60889102G>A	uc009ynk.2	+	6	928	c.825G>A	c.(823-825)CAG>CAA	p.Q275Q		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	275	Extracellular (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCAAGGTGCAGAGCCGTCTGG	0.637		NaN											0	0	0	0.00499	0	17	73				
CAPN1	823	broad.mit.edu	37	11	64977856	64977856	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:64977856G>A	uc009yqd.1	+	20	2103	c.1992G>A	c.(1990-1992)TCG>TCA	p.S664S	CAPN1_uc001odf.1_Silent_p.S664S|CAPN1_uc001odg.1_Silent_p.S664S|CAPN1_uc010roa.1_Silent_p.S405S	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	664	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCCGCTACTCGGAGCCCGACC	0.592		NaN											0	0	0	0.001855	0	12	21				
LRP5	4041	broad.mit.edu	37	11	68115341	68115341	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:68115341C>T	uc001ont.2	+	2	193	c.118C>T	c.(118-120)CGC>TGC	p.R40C	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	40	Beta-propeller 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATTTGCCAACCGCCGGGACGT	0.632		NaN											0	0	0	0.003954	0	23	190				
NUMA1	4926	broad.mit.edu	37	11	71724518	71724518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71724518G>A	uc001orl.1	-	15	4203	c.4031C>T	c.(4030-4032)TCC>TTC	p.S1344F	NUMA1_uc009ysw.1_Missense_Mutation_p.S907F|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.S1344F|NUMA1_uc001orn.2_Missense_Mutation_p.S907F|NUMA1_uc009ysx.1_Missense_Mutation_p.S1344F|NUMA1_uc001oro.1_Missense_Mutation_p.S1344F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1344	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTGCAGGGTGGAGAGGGCCTG	0.647		NaN	T	RARA	APL								0	0	0	0.001368	0	12	125				
INPPL1	3636	broad.mit.edu	37	11	71943351	71943351	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71943351C>T	uc001osf.2	+	14	1830	c.1683C>T	c.(1681-1683)CAC>CAT	p.H561H	INPPL1_uc001osg.2_Silent_p.H319H	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	561					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGAATTGTCACCTCACCTCGG	0.552		NaN											0	0	0	0.000602	0	5	9				
RSF1	51773	broad.mit.edu	37	11	77378038	77378038	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:77378038G>C	uc001oyn.2	-	16	4370	c.4250C>G	c.(4249-4251)GCA>GGA	p.A1417G	RSF1_uc001oym.2_Missense_Mutation_p.A1165G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1417					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTCTGGTGCTCCTGCCTC	0.478		NaN											0	0	0	0.00361	0	44	282				
ODZ4	26011	broad.mit.edu	37	11	78369287	78369287	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:78369287C>G	uc001ozl.3	-	34	8589	c.8126G>C	c.(8125-8127)AGA>ACA	p.R2709T	ODZ4_uc001ozk.3_Missense_Mutation_p.R934T|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2709	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TTCCCGCAGTCTCTGCTGCTC	0.667		NaN											0	0	0	0.001523	0	19	65				
MRE11A	4361	broad.mit.edu	37	11	94201031	94201031	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:94201031C>A	uc001peu.2	-	10	1235	c.1046G>T	c.(1045-1047)CGG>CTG	p.R349L	MRE11A_uc001pev.2_Missense_Mutation_p.R349L|MRE11A_uc009ywj.2_Missense_Mutation_p.R352L|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	349					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAGACGTTCCCGTTCAGCATT	0.333		NaN						Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				1	0	1.32181e-22	0.007291	1.75715e-22	27	26				
EXPH5	23086	broad.mit.edu	37	11	108464258	108464258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:108464258C>T	uc001pkk.2	-	1	117	c.6G>A	c.(4-6)ACG>ACA	p.T2T		NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	2					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAGGAACTTTCGTCATTTTCT	0.458		NaN											0	0	0	0.00499	0	17	38				
HTR3B	9177	broad.mit.edu	37	11	113775663	113775663	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:113775663C>G	uc001pok.2	+	1	75	c.8C>G	c.(7-9)TCA>TGA	p.S3*		NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	3					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GGAATGTTGTCAAGTGTAATG	0.458		NaN											0	0	0	0.00499	0	14	32				
GRIK4	2900	broad.mit.edu	37	11	120690613	120690613	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:120690613C>T	uc001pxn.2	+	6	782	c.495C>T	c.(493-495)ATC>ATT	p.I165I	GRIK4_uc009zav.1_Silent_p.I165I|GRIK4_uc009zaw.1_Silent_p.I165I|GRIK4_uc009zax.1_Silent_p.I165I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	165	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCTGCCTCATCTGTGCCAAAG	0.557		NaN											0	0	0	0.00361	0	88	150				
HSPA8	3312	broad.mit.edu	37	11	122929535	122929535	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:122929535A>G	uc001pyo.2	-	7	1405	c.1327T>C	c.(1327-1329)TAT>CAT	p.Y443H	HSPA8_uc009zbc.2_Missense_Mutation_p.Y207H|HSPA8_uc001pyp.2_Missense_Mutation_p.Y443H|HSPA8_uc010rzu.1_Missense_Mutation_p.Y366H	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	443					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCGCCTTCATAAACCTTGGTA	0.428		NaN											0	0	0	0.006122	0	18	34				
OR6M1	390261	broad.mit.edu	37	11	123676311	123676311	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:123676311G>A	uc010rzz.1	-	1	747	c.747C>T	c.(745-747)CAC>CAT	p.H249H		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTTGCTCCCGTGGGCAATGG	0.507		NaN											0	0	0	0.001368	0	13	28				
IQSEC3	440073	broad.mit.edu	37	12	278230	278230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:278230G>A	uc001qhw.1	+	9	2120	c.2114G>A	c.(2113-2115)GGA>GAA	p.G705E	IQSEC3_uc001qhu.1_Missense_Mutation_p.G705E	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1008					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCCCTGCGGAGCCCAGGGG	0.622		NaN											0	0	0	0.003214	0	44	104				
RAD51AP1	10635	broad.mit.edu	37	12	4662181	4662181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:4662181G>A	uc001qmw.2	+	8	796	c.640G>A	c.(640-642)GAG>AAG	p.E214K	RAD51AP1_uc001qmu.2_Missense_Mutation_p.E197K|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E160K|RAD51AP1_uc010sep.1_Missense_Mutation_p.E79K|RAD51AP1_uc010seq.1_Missense_Mutation_p.E79K|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	214					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGATTTTTGTGAGAGTGAGGA	0.318		NaN											0	0	0	0.006122	0	17	53				
VWF	7450	broad.mit.edu	37	12	6128469	6128469	+	Missense_Mutation	SNP	A	A	G	rs61750070		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6128469A>G	uc001qnn.1	-	28	4365	c.4115T>C	c.(4114-4116)ATC>ACC	p.I1372T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1372	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGGGCGGTCGATCTTGCTGAA	0.612		NaN											0	0	0	0.003271	0	34	85				
PLEKHG6	55200	broad.mit.edu	37	12	6436472	6436472	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6436472G>T	uc001qnr.2	+	15	1871	c.1723G>T	c.(1723-1725)GAT>TAT	p.D575Y	PLEKHG6_uc010sew.1_Missense_Mutation_p.D575Y|PLEKHG6_uc010sex.1_Missense_Mutation_p.D543Y	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	575					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						AGAAGACACAGATGAAGATGC	0.552		NaN									OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.85841e-42	0.00361	5.24556e-42	54	159				
ARHGDIB	397	broad.mit.edu	37	12	15100819	15100819	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:15100819T>C	uc001rcq.1	-	4	434	c.330A>G	c.(328-330)AAA>AAG	p.K110K	ARHGDIB_uc001rcp.1_RNA	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	110					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						TGAAGTGAATTTTGACTCTAT	0.343		NaN											0	0	0	0.008361	0	29	72				
ITPR2	3709	broad.mit.edu	37	12	26810951	26810951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:26810951G>A	uc001rhg.2	-	17	2416	c.1999C>T	c.(1999-2001)CAA>TAA	p.Q667*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	667	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TACTTAGTTTGAATGAGAATG	0.348		NaN											0	0	0	0.00632	0	28	68				
PUS7L	83448	broad.mit.edu	37	12	44148459	44148459	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:44148459A>T	uc001rnq.3	-	2	1079	c.590T>A	c.(589-591)GTA>GAA	p.V197E	PUS7L_uc001rnr.3_Missense_Mutation_p.V197E|PUS7L_uc001rns.3_Missense_Mutation_p.V197E|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	197					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATTTGGTTTTACAACAATTTC	0.323		NaN											0	0	0	0.007291	0	30	73				
DDN	23109	broad.mit.edu	37	12	49392962	49392962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:49392962C>A	uc001rsv.1	-	1	127	c.109G>T	c.(109-111)GAA>TAA	p.E37*	uc001rsw.2_Intron	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	37						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						GTCTTCACTTCTATCACCAAT	0.607		NaN											1	0	4.7546e-09	0.004007	5.94516e-09	16	30				
KRT18	3875	broad.mit.edu	37	12	53345517	53345517	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53345517T>G	uc001sbe.2	+	6	894	c.825T>G	c.(823-825)ATT>ATG	p.I275M	KRT18_uc009zmn.1_Missense_Mutation_p.I275M|KRT18_uc001sbf.1_Missense_Mutation_p.I102M|KRT18_uc001sbg.2_Missense_Mutation_p.I275M|KRT18_uc009zmo.2_Missense_Mutation_p.I275M|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	275	Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						TCCTGCAGATTGAGGAGAGCA	0.607		NaN											0	0	0	0.00308	0	8	38				
PFDN5	5204	broad.mit.edu	37	12	53689715	53689715	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53689715G>A	uc001scl.2	+	2	282	c.165G>A	c.(163-165)AAG>AAA	p.K55K	PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	55					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						TGCTGAACAAGAGCAACGAGG	0.517		NaN											0	0	0	0.001882	0	18	32				
ATP5B	506	broad.mit.edu	37	12	57037667	57037667	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:57037667G>A	uc001slr.2	-	4	666	c.561C>T	c.(559-561)ATC>ATT	p.I187I	SNORD59B_uc001sls.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	187					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CGACAACCTTGATACCAGTCA	0.428		NaN											0	0	0	0.001882	0	21	73				
FAM119B	25895	broad.mit.edu	37	12	58174278	58174278	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:58174278A>G	uc001sqg.2	+	3	655	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	177						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGCACCATCTATCTGGCCTCC	0.582		NaN											0	0	0	0.00278	0	24	40				
GNS	2799	broad.mit.edu	37	12	65116858	65116858	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:65116858G>T	uc001ssg.3	-	11	1406	c.1236C>A	c.(1234-1236)GTC>GTA	p.V412V	GNS_uc001ssf.2_Silent_p.V356V|GNS_uc010ssq.1_Silent_p.V444V|GNS_uc010ssr.1_Silent_p.V392V	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	412						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ATTCCACCAGGACATCTGATC	0.453		NaN											1	0	9.8876e-21	0.004878	1.30771e-20	33	82				
PPP1R12A	4659	broad.mit.edu	37	12	80202350	80202350	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:80202350T>C	uc001syz.2	-	11	1730	c.1463A>G	c.(1462-1464)GAT>GGT	p.D488G	PPP1R12A_uc010suc.1_Missense_Mutation_p.D401G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D488G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D488G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D488G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D488G	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	488						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TCCTTTACTATCTTTCTCCTA	0.323		NaN											0	0	0	0.002852	0	42	135				
APAF1	317	broad.mit.edu	37	12	99120994	99120994	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:99120994C>T	uc001tfz.2	+	26	4077	c.3500C>T	c.(3499-3501)CCG>CTG	p.P1167L	APAF1_uc001tfy.2_Missense_Mutation_p.P1156L|APAF1_uc001tga.2_Missense_Mutation_p.P1113L|APAF1_uc001tgb.2_Missense_Mutation_p.P1124L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.P491L	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1167					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TTGTGTGCTCCGCTTTCAGAA	0.423		NaN											0	0	0	0.004656	0	28	138				
ANKS1B	56899	broad.mit.edu	37	12	100377915	100377915	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100377915C>T	uc001tge.1	-	1	518	c.101G>A	c.(100-102)GGA>GAA	p.G34E	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G34E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	34						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGTCCGGATCCACCGCCCAG	0.582		NaN											0	0	0	0.00333	0	23	78				
ANKS1B	56899	broad.mit.edu	37	12	100378001	100378001	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100378001C>T	uc001tge.1	-	1	432	c.15G>A	c.(13-15)CAG>CAA	p.Q5Q	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.Q5Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	5	ANK 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCAGCAGCTCCTGGTCCTTCC	0.642		NaN											0	0	0	0.00245	0	13	47				
C12orf48	55010	broad.mit.edu	37	12	102569339	102569339	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:102569339A>G	uc001tjf.2	+	7	1012	c.900A>G	c.(898-900)AAA>AAG	p.K300K	C12orf48_uc001tjg.2_Silent_p.K219K|C12orf48_uc010swa.1_Silent_p.K377K|C12orf48_uc001tjh.2_Silent_p.K219K|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.K15K|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	300					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						CTTTTTGCAAAGCAATAGAGG	0.388		NaN											0	0	0	0.00632	0	30	79				
KIAA1033	23325	broad.mit.edu	37	12	105558026	105558026	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:105558026G>A	uc001tld.2	+	31	3382	c.3295G>A	c.(3295-3297)GAT>AAT	p.D1099N	KIAA1033_uc010swr.1_Missense_Mutation_p.D1100N|KIAA1033_uc010sws.1_Missense_Mutation_p.D911N	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	1099					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AGCCAGTCAAGATGAAAAACT	0.428		NaN											0	0	0	0.002836	0	33	74				
TCHP	84260	broad.mit.edu	37	12	110342545	110342545	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110342545G>T	uc001tpn.2	+	4	556	c.403G>T	c.(403-405)GCT>TCT	p.A135S	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.A135S	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	135	Glu-rich.|Potential.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						TTGATAGATTGCTGAACAACT	0.373		NaN											1	0	2.94398e-08	0.007413	3.66352e-08	18	48				
TCHP	84260	broad.mit.edu	37	12	110345365	110345365	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110345365A>T	uc001tpn.2	+	6	713	c.560A>T	c.(559-561)TAT>TTT	p.Y187F	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.Y187F	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	187	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						AACAAACGGTATGAAAATGAA	0.507		NaN											0	0	0	0.007291	0	28	83				
IFT81	28981	broad.mit.edu	37	12	110643412	110643412	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110643412C>G	uc001tqi.2	+	17	1859	c.1729C>G	c.(1729-1731)CAA>GAA	p.Q577E	IFT81_uc001tqh.2_Missense_Mutation_p.Q577E|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	577	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						CCTAGAAGTTCAACTTCGTCG	0.318		NaN											0	0	0	0.00361	0	64	192				
C12orf24	29902	broad.mit.edu	37	12	110927913	110927913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110927913G>A	uc001tqu.3	+	7	1242	c.793G>A	c.(793-795)GAA>AAA	p.E265K	C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	hypothetical protein LOC29902	265											0						GTCAATTGAAGAACAGGGAGA	0.363		NaN											0	0	0	0.005524	0	36	105				
BRAP	8315	broad.mit.edu	37	12	112097074	112097074	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:112097074C>T	uc001tsn.3	-	8	1242	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K	BRAP_uc010syh.1_Missense_Mutation_p.E171K|BRAP_uc009zvv.2_Missense_Mutation_p.E320K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	350	UBP-type.				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TGCGTTTCCTCAAAGTGCTTA	0.443		NaN											0	0	0	0.003271	0	33	108				
RBM19	9904	broad.mit.edu	37	12	114358488	114358488	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:114358488G>C	uc009zwi.2	-	19	2457	c.2313C>G	c.(2311-2313)CTC>CTG	p.L771L	RBM19_uc001tvn.3_Silent_p.L771L|RBM19_uc001tvm.2_Silent_p.L771L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	771	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCATGGAAAGGAGCACTCCTG	0.507		NaN											0	0	0	0.00361	0	110	249				
EP400	57634	broad.mit.edu	37	12	132547111	132547111	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547111G>A	uc001ujn.2	+	46	8234	c.8199G>A	c.(8197-8199)CAG>CAA	p.Q2733Q	EP400_uc001ujl.2_Silent_p.Q2732Q|EP400_uc001ujm.2_Silent_p.Q2652Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2769	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.323		NaN											0	0	0	0.008291	0	10	72				
EP400	57634	broad.mit.edu	37	12	132547117	132547117	+	Silent	SNP	G	G	A	rs151326088		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547117G>A	uc001ujn.2	+	46	8240	c.8205G>A	c.(8203-8205)CAG>CAA	p.Q2735Q	EP400_uc001ujl.2_Silent_p.Q2734Q|EP400_uc001ujm.2_Silent_p.Q2654Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2771	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.323		NaN											0	0	0	0.004482	0	9	64				
EP400	57634	broad.mit.edu	37	12	132547120	132547120	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547120G>A	uc001ujn.2	+	46	8243	c.8208G>A	c.(8206-8208)CAG>CAA	p.Q2736Q	EP400_uc001ujl.2_Silent_p.Q2735Q|EP400_uc001ujm.2_Silent_p.Q2655Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2772	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.318		NaN											0	0	0	0.008291	0	11	65				
GOLGA3	2802	broad.mit.edu	37	12	133381318	133381318	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:133381318G>A	uc001ukz.1	-	7	2140	c.1581C>T	c.(1579-1581)CTC>CTT	p.L527L	GOLGA3_uc001ula.1_Silent_p.L527L|GOLGA3_uc001ulb.2_Silent_p.L527L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	527	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTCCTTGCTGAGCATGCTCC	0.637		NaN											0	0	0	0.008361	0	28	68				
SMAD9	4093	broad.mit.edu	37	13	37422860	37422860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:37422860G>C	uc001uvw.2	-	7	1700	c.1357C>G	c.(1357-1359)CTG>GTG	p.L453V	SMAD9_uc001uvx.2_Missense_Mutation_p.L416V|SMAD9_uc010tep.1_Missense_Mutation_p.L246V	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	453	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATCTGAGTCAGAACTTTGTCC	0.507		NaN											0	0	0	0.00361	0	97	188				
FREM2	341640	broad.mit.edu	37	13	39263139	39263139	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:39263139T>C	uc001uwv.2	+	1	1967	c.1658T>C	c.(1657-1659)TTA>TCA	p.L553S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	553	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATCACCTTAGTGCCTGTG	0.582		NaN											0	0	0	0.001368	0	13	21				
DIAPH3	81624	broad.mit.edu	37	13	60240843	60240843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:60240843C>T	uc001vht.2	-	28	3676	c.3457G>A	c.(3457-3459)GAG>AAG	p.E1153K	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1153					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCCTTCTTCTCAGCTGCCTTG	0.413		NaN											0	0	0	0.002222	0	37	89				
SLITRK6	84189	broad.mit.edu	37	13	86370509	86370509	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:86370509T>G	uc001vll.1	-	2	594	c.135A>C	c.(133-135)CTA>CTC	p.L45L	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	45	LRRNT 1.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAATTTATTAGCATTGTGC	0.408		NaN											0	0	0	0.002836	0	34	48				
NALCN	259232	broad.mit.edu	37	13	101759884	101759884	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:101759884T>A	uc001vox.1	-	22	2722	c.2533A>T	c.(2533-2535)AGG>TGG	p.R845W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	845	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTCTGAACCTGTGTTCTCGC	0.502		NaN											0	0	0	0.005443	0	27	55				
FAM155A	728215	broad.mit.edu	37	13	108518492	108518492	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:108518492G>A	uc001vql.2	-	1	969	c.453C>T	c.(451-453)GAC>GAT	p.D151D		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	151						integral to membrane	binding			skin(1)	1						CCTTGCCCCGGTCGTCTTTGC	0.692		NaN											0	0	0	0.004007	0	16	26				
OR4N2	390429	broad.mit.edu	37	14	20296468	20296468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20296468T>A	uc010tkv.1	+	1	861	c.861T>A	c.(859-861)TAT>TAA	p.Y287*		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTCATTTATACCCTTCGCA	0.418		NaN											0	0	0	0.008871	0	21	70				
OR4K17	390436	broad.mit.edu	37	14	20586496	20586496	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20586496C>T	uc001vwo.1	+	1	931	c.931C>T	c.(931-933)CCT>TCT	p.P311S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATCATCACTCCTATCTTGAA	0.373		NaN											0	0	0	0.001855	0	12	38				
TEP1	7011	broad.mit.edu	37	14	20848088	20848088	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20848088C>A	uc001vxe.2	-	35	5167	c.5127_splice	c.e35+1	p.Q1709_splice	TEP1_uc010ahk.2_Splice_Site_p.Q1052_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.Q1601_splice|TEP1_uc010tlh.1_Splice_Site_p.Q47_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATTGTCATACCTGCCAAGTT	0.507		NaN											1	0	0.00400662	0.004007	0.00485406	16	56				
AP1G2	8906	broad.mit.edu	37	14	24034889	24034889	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:24034889T>C	uc001wkl.2	-	7	1004	c.667A>G	c.(667-669)ATC>GTC	p.I223V	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.I151V|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.I223V|AP1G2_uc010aks.2_Missense_Mutation_p.I151V|AP1G2_uc010akt.2_Missense_Mutation_p.I151V|AP1G2_uc010tnq.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	223					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTCCGGAGGATGTGTACCAGC	0.557		NaN											0	0	0	0.00245	0	13	52				
ZFP36L1	677	broad.mit.edu	37	14	69256333	69256333	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69256333T>G	uc001xkh.1	-	2	1064	c.934A>C	c.(934-936)AGC>CGC	p.S312R	ZFP36L1_uc001xki.1_Missense_Mutation_p.S312R	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	312	Poly-Ser.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCACTGTGGCTGCTGCTGGAG	0.597		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	47	172		Valid		
DCAF5	8816	broad.mit.edu	37	14	69521082	69521082	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69521082G>T	uc001xkp.2	-	9	2540	c.2321C>A	c.(2320-2322)CCT>CAT	p.P774H	DCAF5_uc001xkq.2_Missense_Mutation_p.P773H	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	774						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGTTTCAAAAGGGTGCTCTAC	0.597		NaN											1	0	2.47511e-08	0.008361	3.08497e-08	27	108				
SLC8A3	6547	broad.mit.edu	37	14	70512799	70512799	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:70512799C>T	uc001xly.2	-	8	3403	c.2649G>A	c.(2647-2649)AGG>AGA	p.R883R	SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	883	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602		NaN									OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	9	35				
BATF	10538	broad.mit.edu	37	14	75989032	75989032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:75989032C>T	uc001xrr.2	+	1	249	c.7C>T	c.(7-9)CAC>TAC	p.H3Y		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	3						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCCATGCCTCACAGCTCCGA	0.592		NaN											0	0	0	0.002299	0	23	63				
GALC	2581	broad.mit.edu	37	14	88459416	88459416	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:88459416C>T	uc001xvt.2	-	1	492	c.93G>A	c.(91-93)TTG>TTA	p.L31L	GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.L31L|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.L31L	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	31					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						CACACAGCAGCAAGGGCACCG	0.731		NaN											0	0	0	0.000602	0	4	9				
CCDC88C	440193	broad.mit.edu	37	14	91792370	91792370	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:91792370C>T	uc010aty.2	-	11	1180	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	361	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GCCTTGGTTTCAATTAAAATG	0.458		NaN											0	0	0	0.004482	0	8	23				
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:93412799C>T	uc001ybg.2	-	10	1067	c.778G>A	c.(778-780)GAG>AAG	p.E260K	ITPK1_uc001ybe.2_Missense_Mutation_p.E260K|ITPK1_uc001ybf.2_Missense_Mutation_p.E141K|ITPK1_uc001ybh.2_Missense_Mutation_p.E260K	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	260	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632		NaN											0	0	0	0.001882	0	20	67				
DDX24	57062	broad.mit.edu	37	14	94526714	94526714	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94526714G>C	uc001ycj.2	-	5	1742	c.1643C>G	c.(1642-1644)CCC>CGC	p.P548R	DDX24_uc010twq.1_Missense_Mutation_p.P505R|DDX24_uc010twr.1_Missense_Mutation_p.P298R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	548					RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AATGACCTTGGGCTTGCCCCT	0.468		NaN											0	0	0	0.00361	0	52	138				
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94674875C>T	uc001ycs.1	+	3	420	c.266C>T	c.(265-267)ACG>ATG	p.T89M	PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		skin(3)|upper_aerodigestive_tract(1)	4						CCCACTGAGACGCTTCGGAGA	0.388		NaN											0	0	0	0.00499	0	16	46				
DYNC1H1	1778	broad.mit.edu	37	14	102452341	102452341	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102452341C>T	uc001yks.2	+	8	1943	c.1779C>T	c.(1777-1779)GTC>GTT	p.V593V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	593	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CACTGTTTGTCAGGCCTCACA	0.527		NaN											0	0	0	0.008361	0	30	55				
DYNC1H1	1778	broad.mit.edu	37	14	102493553	102493553	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102493553T>C	uc001yks.2	+	45	8978	c.8814T>C	c.(8812-8814)GTT>GTC	p.V2938V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2938	AAA 4 (By similarity).|ATP (Potential).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGATTGGTGTTAGTGGAGCAG	0.463		NaN											0	0	0	0.00361	0	116	313				
AHNAK2	113146	broad.mit.edu	37	14	105419725	105419725	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:105419725G>A	uc010axc.1	-	7	2183	c.2063C>T	c.(2062-2064)TCA>TTA	p.S688L	AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	688						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCTGACGCCCCGAA	0.542		NaN											0	0	0	0.00361	0	78	232				
NDN	4692	broad.mit.edu	37	15	23931699	23931699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:23931699C>T	uc001ywk.2	-	1	752	c.666G>A	c.(664-666)TGG>TGA	p.W222*		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	222	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGCTTCTTCCAGGGCCGCA	0.622		NaN							Prader-Willi_syndrome				0	0	0	0.004007	0	17	45				
GABRG3	2567	broad.mit.edu	37	15	27765177	27765177	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:27765177A>T	uc001zbg.1	+	7	938	c.772A>T	c.(772-774)ATT>TTT	p.I258F		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	258	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATACTTCACCATTCAGACATA	0.353		NaN											0	0	0	0.001168	0	6	9				
MTMR10	54893	broad.mit.edu	37	15	31239408	31239408	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:31239408C>T	uc001zfh.1	-	14	1571	c.1473G>A	c.(1471-1473)TTG>TTA	p.L491L	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Silent_p.L72L|MTMR10_uc010azx.1_Silent_p.L243L|MTMR10_uc001zfi.1_Silent_p.L243L|MTMR10_uc001zfj.2_Silent_p.L409L|MTMR10_uc001zfk.2_Silent_p.L243L	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	491	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGCTGTCATACAACACTGCCA	0.507		NaN											0	0	0	0.007835	0	38	115				
AQR	9716	broad.mit.edu	37	15	35212624	35212624	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:35212624A>C	uc001ziv.2	-	14	1311	c.1130T>G	c.(1129-1131)CTC>CGC	p.L377R		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	377						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CACCTGGTGGAGTGTGTTTGA	0.318		NaN											0	0	0	0.000978	0	9	28				
C15orf52	388115	broad.mit.edu	37	15	40627555	40627555	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:40627555A>G	uc001zlh.3	-	11	1425	c.1409T>C	c.(1408-1410)CTG>CCG	p.L470P	C15orf52_uc010ucn.1_Missense_Mutation_p.L260P	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	470										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGTACTTCCAGCTCAGCCTG	0.662		NaN											0	0	0	0.004289	0	32	67				
FAM82A2	55177	broad.mit.edu	37	15	41037420	41037420	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41037420C>T	uc001zmo.1	-	5	706	c.562G>A	c.(562-564)GAC>AAC	p.D188N	FAM82A2_uc001zmp.1_Missense_Mutation_p.D188N|FAM82A2_uc001zmq.1_Missense_Mutation_p.D188N	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	188					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						TTGTCAGAGTCCCGCTCATTG	0.498		NaN											0	0	0	0.00361	0	85	106				
INO80	54617	broad.mit.edu	37	15	41280022	41280022	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280022T>G	uc001zni.2	-	30	3934	c.3721A>C	c.(3721-3723)AAG>CAG	p.K1241Q	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1241	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						ACCTCACTCTTCTCCTTGGCT	0.468		NaN											0	0	0	0.00361	0	105	346				
INO80	54617	broad.mit.edu	37	15	41280032	41280032	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280032T>C	uc001zni.2	-	30	3924	c.3711A>G	c.(3709-3711)AGA>AGG	p.R1237R	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1237	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCTCCTTGGCTCTTTGCAGAA	0.478		NaN											0	0	0	0.00361	0	103	330				
SPTBN5	51332	broad.mit.edu	37	15	42168429	42168429	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42168429C>T	uc001zos.2	-	21	4233	c.3900G>A	c.(3898-3900)CTG>CTA	p.L1300L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1335	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGCAGCCATCAGCCCCTTCT	0.627		NaN											0	0	0	0.000978	0	11	25				
SPTBN5	51332	broad.mit.edu	37	15	42170747	42170747	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42170747T>A	uc001zos.2	-	17	3491	c.3158A>T	c.(3157-3159)CAG>CTG	p.Q1053L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1088					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTGTTCCTGTACTTGCTT	0.642		NaN											0	0	0	0.008291	0	10	33				
TGM5	9333	broad.mit.edu	37	15	43531079	43531079	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:43531079G>A	uc001zrd.1	-	9	1289	c.1281C>T	c.(1279-1281)ATC>ATT	p.I427I	TGM5_uc001zrc.1_Silent_p.I84I|TGM5_uc001zre.1_Silent_p.I345I	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	427					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCTTTGTGCTGATAAAATTGC	0.507		NaN											0	0	0	0.00499	0	17	33				
SLC12A1	6557	broad.mit.edu	37	15	48559784	48559784	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:48559784G>T	uc001zwn.3	+	18	2397	c.2181G>T	c.(2179-2181)GAG>GAT	p.E727D	SLC12A1_uc010uew.1_Missense_Mutation_p.E533D|SLC12A1_uc010bem.2_Missense_Mutation_p.E727D|SLC12A1_uc001zwq.3_Missense_Mutation_p.E498D|SLC12A1_uc001zwr.3_Missense_Mutation_p.E454D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	727					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGTTAAGGAGATGAACAGTG	0.433		NaN											1	0	6.12954e-19	0.004656	8.07937e-19	26	64				
APH1B	83464	broad.mit.edu	37	15	63579740	63579740	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:63579740A>G	uc002ama.2	+	4	547	c.473A>G	c.(472-474)TAT>TGT	p.Y158C	APH1B_uc002amb.2_Intron|APH1B_uc010bgq.2_Missense_Mutation_p.Y104C|APH1B_uc010bgr.2_Missense_Mutation_p.Y104C	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	158	Helical; Name=5; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						TTCTTCCTTTATTCAGGTATG	0.423		NaN											0	0	0	0.00361	0	85	188				
CSNK1G1	53944	broad.mit.edu	37	15	64592686	64592686	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:64592686T>C	uc002anf.2	-	2	493	c.13A>G	c.(13-15)AGT>GGT	p.S5G	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anh.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anj.2_5'UTR|CSNK1G1_uc010uip.1_RNA	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	5					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						TTTTCCCTACTAGGATGGTCC	0.448		NaN											0	0	0	0.00361	0	51	148				
HCN4	10021	broad.mit.edu	37	15	73616530	73616530	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:73616530G>T	uc002avp.2	-	7	3037	c.2043C>A	c.(2041-2043)CTC>CTA	p.L681L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	681	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TCAGCGAGTAGAGGCGGCAGT	0.642		NaN											1	0	1.77063e-15	0.005443	2.29123e-15	27	65				
FBXO22	26263	broad.mit.edu	37	15	76222340	76222340	+	Silent	SNP	C	C	T	rs143480986		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:76222340C>T	uc002bbk.2	+	6	849	c.744C>T	c.(742-744)ATC>ATT	p.I248I	FBXO22_uc002bbj.1_Silent_p.I248I|FBXO22_uc002bbl.2_Silent_p.I144I	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	248					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						ATATGAATATCATCTTGGCTG	0.438		NaN											0	0	0	0.002836	0	34	97				
IREB2	3658	broad.mit.edu	37	15	78758655	78758655	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:78758655G>A	uc002bdr.2	+	5	615	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q151Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	151							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGACCTGCAGAAAGCAGGAA	0.458		NaN											0	0	0	0.001523	0	21	35				
ADAMTS7	11173	broad.mit.edu	37	15	79090340	79090340	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:79090340C>G	uc002bej.3	-	3	783	c.572G>C	c.(571-573)AGG>ACG	p.R191T	ADAMTS7_uc010und.1_Missense_Mutation_p.R191T|ADAMTS7_uc002bek.1_Missense_Mutation_p.R191T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CTGTGCCAGCCTCTCCGGGGC	0.647		NaN											0	0	0	0.001786	0	29	108				
ADAMTSL3	57188	broad.mit.edu	37	15	84651522	84651522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:84651522G>A	uc002bjz.3	+	21	3366	c.3142G>A	c.(3142-3144)GAC>AAC	p.D1048N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1048N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1048N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1048						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGATGATGACCACATTAG	0.448		NaN											0	0	0	0.003954	0	23	77				
ALPK3	57538	broad.mit.edu	37	15	85401501	85401501	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:85401501G>A	uc002ble.2	+	6	4305	c.4138G>A	c.(4138-4140)GGG>AGG	p.G1380R		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1380					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAGGAGACGGGGAGGCAAC	0.652		NaN											0	0	0	0.000248	0	4	11				
AKAP13	11214	broad.mit.edu	37	15	86123759	86123759	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:86123759A>T	uc002blv.1	+	7	2630	c.2460A>T	c.(2458-2460)ACA>ACT	p.T820T	AKAP13_uc002blt.1_Silent_p.T820T|AKAP13_uc002blu.1_Silent_p.T820T|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AACTACATACAGCTACAGATT	0.498		NaN											0	0	0	0.00361	0	76	184				
WDR93	56964	broad.mit.edu	37	15	90245001	90245001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:90245001G>C	uc002boj.2	+	2	125	c.24G>C	c.(22-24)CAG>CAC	p.Q8H	WDR93_uc002bok.3_Missense_Mutation_p.Q8H|WDR93_uc010bnr.2_Missense_Mutation_p.Q8H	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	8					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGGAAGTCAGACCCAGAAAA	0.463		NaN											0	0	0	0.00361	0	47	136				
CRTC3	64784	broad.mit.edu	37	15	91172733	91172733	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:91172733C>A	uc002bpp.2	+	11	1341	c.1235C>A	c.(1234-1236)ACC>AAC	p.T412N	CRTC3_uc002bpo.2_Missense_Mutation_p.T412N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	412					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCTTCAACCAGCCCACTG	0.567		NaN	T	MAML2	salivary gland mucoepidermoid								1	0	9.42957e-07	0.007835	1.16228e-06	44	116				
IGF1R	3480	broad.mit.edu	37	15	99459919	99459919	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:99459919A>C	uc002bul.2	+	10	2065	c.2015A>C	c.(2014-2016)AAG>ACG	p.K672T	IGF1R_uc010urq.1_Missense_Mutation_p.K672T|IGF1R_uc010bon.2_Missense_Mutation_p.K672T|IGF1R_uc010urr.1_Missense_Mutation_p.K122T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	672	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCATCAGGAAGTATGCCGAC	0.488		NaN											0	0	0	0.001523	0	19	47				
ADAMTS17	170691	broad.mit.edu	37	15	100821443	100821443	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:100821443G>A	uc002bvv.1	-	4	859	c.780C>T	c.(778-780)GTC>GTT	p.V260V	ADAMTS17_uc002bvx.1_Silent_p.V17V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	260	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATGTTCATGACGGTCAGGA	0.622		NaN											0	0	0	0.002096	0	31	119				
PCSK6	5046	broad.mit.edu	37	15	101906500	101906500	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:101906500C>T	uc002bwy.2	-	14	2073	c.1759G>A	c.(1759-1761)GAA>AAA	p.E587K	PCSK6_uc010bpd.2_Missense_Mutation_p.E383K|PCSK6_uc010bpe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxa.2_Missense_Mutation_p.E587K|PCSK6_uc002bxb.2_Missense_Mutation_p.E587K|PCSK6_uc002bxc.1_Missense_Mutation_p.E587K|PCSK6_uc002bxd.1_Missense_Mutation_p.E587K|PCSK6_uc002bxe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxf.1_Missense_Mutation_p.E87K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	587	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCATGAATTCCCAGTTTGTA	0.542		NaN											0	0	0	0.001984	0	7	61				
CCDC78	124093	broad.mit.edu	37	16	775278	775278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:775278T>C	uc002cjg.2	-	5	557	c.451A>G	c.(451-453)ACC>GCC	p.T151A	CCDC78_uc002cjf.2_5'UTR|CCDC78_uc002cji.3_Missense_Mutation_p.T225A|CCDC78_uc002cjj.3_Missense_Mutation_p.T95A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.T151A|CCDC78_uc002cjk.2_Missense_Mutation_p.T140A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	151										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				GGGTTCATGGTGTTCTTGGGC	0.632		NaN											0	0	0	0.00361	0	61	90				
RPUSD1	113000	broad.mit.edu	37	16	836923	836923	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:836923C>T	uc002cka.2	-	4	649	c.415G>A	c.(415-417)GAG>AAG	p.E139K	RPUSD1_uc002ckb.2_Missense_Mutation_p.E139K|RPUSD1_uc002ckc.2_Missense_Mutation_p.E10K|RPUSD1_uc002ckd.2_Silent_p.V104V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	139					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				TTTGGGTTCTCACAACCTGGG	0.647		NaN											0	0	0	0.002299	0	21	85				
BAIAP3	8938	broad.mit.edu	37	16	1395092	1395092	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:1395092C>G	uc002clk.1	+	21	2037	c.2037C>G	c.(2035-2037)ATC>ATG	p.I679M	BAIAP3_uc002clj.2_Missense_Mutation_p.I661M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I644M|BAIAP3_uc010uva.1_Missense_Mutation_p.I616M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I608M	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	679	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GGGATAGCATCCCTGGCCGGT	0.647		NaN											0	0	0	0.006999	0	41	111				
SRRM2	23524	broad.mit.edu	37	16	2808993	2808993	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:2808993G>A	uc002crk.2	+	6	1150	c.601G>A	c.(601-603)GAG>AAG	p.E201K	SRRM2_uc002crj.1_Missense_Mutation_p.E105K|SRRM2_uc002crl.1_Missense_Mutation_p.E201K|SRRM2_uc010bsu.1_Missense_Mutation_p.E105K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	201	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TAGCAGGTCAGAGAGCAGCTC	0.453		NaN											0	0	0	0.006122	0	18	35				
OR1F1	4992	broad.mit.edu	37	16	3254779	3254779	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:3254779T>C	uc010uwu.1	+	1	533	c.533T>C	c.(532-534)TTC>TCC	p.F178S		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTCACTTCTTCTGCGATGTG	0.507		NaN											0	0	0	0.006999	0	41	110				
NAGPA	51172	broad.mit.edu	37	16	5083318	5083318	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5083318C>T	uc002cyg.2	-	2	519	c.498G>A	c.(496-498)CAG>CAA	p.Q166Q	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Silent_p.Q24Q|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Silent_p.Q24Q|NAGPA_uc010uxx.1_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	166	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	ACTGCGCGTTCTGCAGCCCCC	0.697		NaN											0	0	0	0.003163	0	14	22				
ALG1	56052	broad.mit.edu	37	16	5123184	5123184	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5123184A>T	uc002cym.2	+	3	358	c.317A>T	c.(316-318)AAA>ATA	p.K106I	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.K106I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	106	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TACGGAGTCAAAGTTGTACTT	0.507		NaN											0	0	0	0.00499	0	16	72				
GRIN2A	2903	broad.mit.edu	37	16	9857968	9857968	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:9857968C>T	uc002czo.3	-	13	3981	c.3433G>A	c.(3433-3435)GTG>ATG	p.V1145M	GRIN2A_uc010uym.1_Missense_Mutation_p.V1145M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V988M|GRIN2A_uc002czr.3_Missense_Mutation_p.V1145M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1145	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAAGTCCACGTTCTCGGGC	0.537		NaN											0	0	0	0.00361	0	48	168				
SMG1	23049	broad.mit.edu	37	16	18864945	18864945	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:18864945C>T	uc002dfm.2	-	31	5091	c.4728G>A	c.(4726-4728)ACG>ACA	p.T1576T	SMG1_uc010bwb.2_Silent_p.T1436T|SMG1_uc010bwa.2_Silent_p.T307T	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1576	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CTTCTTCCATCGTATTAACAG	0.348		NaN											0	0	0	0.001984	0	7	25				
CP110	9738	broad.mit.edu	37	16	19539318	19539318	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19539318C>T	uc002dgl.3	+	2	362	c.115C>T	c.(115-117)CAT>TAT	p.H39Y	CP110_uc002dgk.3_Missense_Mutation_p.H39Y			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	39	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TATTCGCTTTCATGGAGTGGC	0.333		NaN											0	0	0	0.003755	0	30	78				
C16orf62	57020	broad.mit.edu	37	16	19656273	19656273	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19656273T>C	uc002dgn.1	+	23	1941	c.1929_splice	c.e23+2	p.M643_splice	C16orf62_uc002dgo.1_Splice_Site_p.M576_splice|C16orf62_uc002dgp.1_Splice_Site_p.M392_splice	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020							integral to membrane				ovary(1)	1						ATAAAAATGGTAAGTATTAGG	0.338		NaN											0	0	0	0.006122	0	16	51				
PDILT	204474	broad.mit.edu	37	16	20410448	20410448	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20410448G>T	uc002dhc.1	-	2	398	c.175C>A	c.(175-177)CAG>AAG	p.Q59K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	59					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AAGCGGGTCTGGTTCAGCATC	0.587		NaN											1	0	9.39395e-14	0.00632	1.21358e-13	27	77				
DNAH3	55567	broad.mit.edu	37	16	20975839	20975839	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20975839T>C	uc010vbe.1	-	53	9367	c.9367A>G	c.(9367-9369)ACC>GCC	p.T3123A	DNAH3_uc010vbd.1_Missense_Mutation_p.T558A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3123	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAGACAGGGGTGCCTAACTGC	0.438		NaN											0	0	0	0.00361	0	62	197				
GTF3C1	2975	broad.mit.edu	37	16	27472877	27472877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:27472877C>T	uc002dov.1	-	37	6164	c.6124G>A	c.(6124-6126)GAG>AAG	p.E2042K	GTF3C1_uc002dou.2_Missense_Mutation_p.E2017K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	2042						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGAGGGACTCCAGGCCCTGG	0.493		NaN											0	0	0	0.004656	0	23	55				
SH2B1	25970	broad.mit.edu	37	16	28883959	28883959	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28883959T>A	uc002dri.2	+	10	2269	c.1830T>A	c.(1828-1830)CCT>CCA	p.P610P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P300P|SH2B1_uc002drj.2_Silent_p.P610P|SH2B1_uc002drk.2_Silent_p.P610P|SH2B1_uc002drl.2_Silent_p.P610P|SH2B1_uc010vdd.1_Silent_p.P274P|SH2B1_uc010vde.1_Silent_p.P610P|SH2B1_uc002drm.2_Silent_p.P610P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	610	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						ACCCCATCCCTTTGGAGTCGG	0.602		NaN											0	0	0	0.002222	0	42	90				
ATP2A1	487	broad.mit.edu	37	16	28914209	28914209	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28914209C>T	uc002dro.1	+	19	2905	c.2721C>T	c.(2719-2721)ATC>ATT	p.I907I	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.I907I|ATP2A1_uc002drp.1_Silent_p.I782I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	907	Helical; Name=8; (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGTGACCATCGAGATGTGCA	0.637		NaN											0	0	0	0.003163	0	16	30				
NFATC2IP	84901	broad.mit.edu	37	16	28963486	28963486	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28963486C>G	uc002dru.2	+	2	436	c.421C>G	c.(421-423)CTA>GTA	p.L141V	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Translation_Start_Site|NFATC2IP_uc010vdg.1_Missense_Mutation_p.L141V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	141						cytoplasm|nucleus				ovary(1)	1						CCCAGATGATCTATCCCTCCT	0.542		NaN											0	0	0	0.00361	0	48	106				
TAOK2	9344	broad.mit.edu	37	16	29994162	29994162	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:29994162G>A	uc002dva.1	+	11	1722	c.939G>A	c.(937-939)AAG>AAA	p.K313K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.K313K|TAOK2_uc002dvc.1_Silent_p.K313K|TAOK2_uc010bzm.1_Silent_p.K313K|TAOK2_uc002dvd.1_Silent_p.K140K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	313					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GCAAGATGAAGAAGATCCTGT	0.602		NaN											0	0	0	0.004289	0	36	97				
PRSS36	146547	broad.mit.edu	37	16	31157215	31157215	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31157215G>A	uc002ebd.2	-	6	674	c.615C>T	c.(613-615)ACC>ACT	p.T205T	PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.T205T|PRSS36_uc010vfh.1_Silent_p.T205T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	205	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GACATTGACAGGTGGCCTCGC	0.612		NaN											0	0	0	0.001855	0	14	41				
ITGAM	3684	broad.mit.edu	37	16	31288291	31288291	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31288291C>G	uc002ebq.2	+	11	1232	c.1134C>G	c.(1132-1134)GTC>GTG	p.V378V	ITGAM_uc002ebr.2_Silent_p.V378V|ITGAM_uc010cam.1_Silent_p.V29V	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	378	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CTGGTGGAGTCTTTCTATATA	0.498		NaN											0	0	0	0.000978	0	12	18				
COQ9	57017	broad.mit.edu	37	16	57492236	57492236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57492236C>G	uc002elq.2	+	6	701	c.685C>G	c.(685-687)CAT>GAT	p.H229D	COQ9_uc002elr.2_Missense_Mutation_p.H194D|COQ9_uc002els.2_Missense_Mutation_p.H22D	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	229					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						TGACATGTGGCATTACGCTGG	0.547		NaN											0	0	0	0.000602	0	4	7				
POLR2C	5432	broad.mit.edu	37	16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57496641C>T	uc002elt.1	+	1	91	c.5C>T	c.(4-6)CCG>CTG	p.P2L	POLR2C_uc010vhq.1_Missense_Mutation_p.P2L	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	2					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						GGCGAGATGCCGTACGCCAAC	0.652		NaN									OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	14				
GPR114	221188	broad.mit.edu	37	16	57596033	57596033	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57596033T>C	uc002elx.3	+	2	113	c.28T>C	c.(28-30)TGC>CGC	p.C10R	GPR114_uc010vhr.1_Missense_Mutation_p.C10R|GPR114_uc002ely.2_Missense_Mutation_p.C10R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	10					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						CCTTTTCCTGTGCCTGTGCCT	0.552		NaN											0	0	0	0.004289	0	36	76				
CNOT1	23019	broad.mit.edu	37	16	58621689	58621689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:58621689G>A	uc002env.2	-	4	597	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q102*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q102*|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	102					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAACCTTCTGATAGTGCAAT	0.363		NaN											0	0	0	0.003954	0	24	57				
KCTD19	146212	broad.mit.edu	37	16	67323569	67323569	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:67323569G>T	uc002esu.2	-	16	2735	c.2684C>A	c.(2683-2685)GCC>GAC	p.A895D	KCTD19_uc002est.2_Missense_Mutation_p.A667D|KCTD19_uc010vjj.1_Missense_Mutation_p.A638D	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	895						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATATTTCCTGGCGAAGGGCAG	0.542		NaN											1	0	0.000219431	0.00245	0.000266672	15	64				
COG8	84342	broad.mit.edu	37	16	69370492	69370492	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:69370492C>G	uc002ewy.2	-	2	572	c.501G>C	c.(499-501)CGG>CGC	p.R167R	COG8_uc002ewz.3_Silent_p.R167R	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	167					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						AATAACTGTTCCGGACACAGG	0.522		NaN											0	0	0	0.005443	0	28	62				
DDX19B	11269	broad.mit.edu	37	16	70367484	70367484	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70367484G>A	uc002eyo.2	+	12	1568	c.1439G>A	c.(1438-1440)TGA>TAA	p.*480*	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.*454*|DDX19B_uc010vlw.1_Silent_p.*371*|DDX19B_uc002eyp.2_Silent_p.*449*|DDX19B_uc002eyq.2_Silent_p.*371*|DDX19B_uc002eyr.2_Silent_p.*329*|DDX19B_uc010vlx.1_Silent_p.*329*|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	480					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				ATAGCCAACTGAGAAGCTCCA	0.537		NaN											0	0	0	0.00361	0	130	162				
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70506488C>T	uc002eyy.2	+	14	1444	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F	FUK_uc010cft.2_Silent_p.F494F|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	462						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607		NaN											0	0	0	0.001984	0	6	17				
COG4	25839	broad.mit.edu	37	16	70543163	70543163	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70543163A>G	uc002ezc.2	-	7	984	c.973T>C	c.(973-975)TTC>CTC	p.F325L	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.F325L|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TGCTTGATGAACTTGTCTACC	0.483		NaN											0	0	0	0.006214	0	9	298				
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:84444355C>T	uc002fhx.2	+	6	588	c.499C>T	c.(499-501)CCT>TCT	p.P167S	ATP2C2_uc010chj.2_Missense_Mutation_p.P167S|ATP2C2_uc002fhy.2_Missense_Mutation_p.P184S|ATP2C2_uc002fhz.2_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	167	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CAAGATGGTTCCTCCAGAATG	0.507		NaN											0	0	0	0.002299	0	23	73				
TCF25	22980	broad.mit.edu	37	16	89962447	89962447	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:89962447C>T	uc002fpb.2	+	9	1060	c.978C>T	c.(976-978)CTC>CTT	p.L326L	TCF25_uc002fpc.2_Silent_p.L91L	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	326					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTTCAGTCTCACCAGTGGGG	0.632		NaN											0	0	0	0.00245	0	10	35				
SGSM2	9905	broad.mit.edu	37	17	2264993	2264993	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:2264993G>C	uc002fun.3	+	3	371	c.196G>C	c.(196-198)GAC>CAC	p.D66H	SGSM2_uc002fum.3_Missense_Mutation_p.D66H|SGSM2_uc010vqw.1_Missense_Mutation_p.D66H	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	66	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCTGCGCAGTGACAAGATGGC	0.607		NaN											0	0	0	0.00245	0	13	61				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	52	36		Valid		
CYB5D1	124637	broad.mit.edu	37	17	7761743	7761743	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7761743C>T	uc002gjb.3	+	2	572	c.183C>T	c.(181-183)ATC>ATT	p.I61I	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.I61I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	61	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TGAAACCCATCGTGGAAGTTG	0.542		NaN									OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	28	31				
GAS7	8522	broad.mit.edu	37	17	10101629	10101629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:10101629C>T	uc002gmg.1	-	1	240	c.79G>A	c.(79-81)GAG>AAG	p.E27K		NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	27	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGATCAGCTCGCCCGCGGCG	0.721		NaN	T	MLL	AML*								0	0	0	0.007413	0	18	56				
TOP3A	7156	broad.mit.edu	37	17	18217940	18217940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18217940G>C	uc002gsx.1	-	1	382	c.153C>G	c.(151-153)GAC>GAG	p.D51E	SMCR8_uc002gsy.3_5'Flank|TOP3A_uc010vxs.1_5'UTR|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	51	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TTGACAGCAGGTCGGCGATCC	0.652		NaN											0	0	0	0.00499	0	14	41				
CCDC144B	284047	broad.mit.edu	37	17	18513444	18513444	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18513444C>T	uc002gub.1	-	3	662	c.577G>A	c.(577-579)GAC>AAC	p.D193N	CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D193N	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2						ACTCCAGTGTCCATTTTTTCT	0.418		NaN											0	0	0	0.00361	0	65	474				
RNF112	7732	broad.mit.edu	37	17	19316617	19316617	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19316617A>C	uc010vyw.1	+	5	812	c.613A>C	c.(613-615)AGA>CGA	p.R205R	RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.R205R|RNF112_uc010vyx.1_Silent_p.R88R	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	205							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CGGCCGGCCAAGAGGAGGAGA	0.637		NaN											0	0	0	0.002299	0	22	50				
SLC47A2	146802	broad.mit.edu	37	17	19618059	19618059	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19618059G>A	uc002gwe.3	-	3	444	c.269C>T	c.(268-270)TCG>TTG	p.S90L	SLC47A2_uc002gwg.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwf.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	90	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GTCACATGCCGAAGACAAACC	0.567		NaN											0	0	0	0.00361	0	65	229				
CYTSB	92521	broad.mit.edu	37	17	20108350	20108350	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:20108350G>C	uc002gwq.2	+	4	1133	c.988G>C	c.(988-990)GAC>CAC	p.D330H	CYTSB_uc010cqx.2_Missense_Mutation_p.D330H|CYTSB_uc002gwr.2_Missense_Mutation_p.D330H|CYTSB_uc002gws.2_Missense_Mutation_p.D330H|CYTSB_uc002gwv.2_Missense_Mutation_p.D249H|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D106H|CYTSB_uc002gwt.2_Missense_Mutation_p.D249H|CYTSB_uc002gwu.2_Missense_Mutation_p.D249H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	330	Ser-rich.			D -> N (in Ref. 5; AAH50058).		nucleus					0						AGATGCTTCCGACTTTGAGCA	0.458		NaN											0	0	0	0.006214	0	7	239				
SLC46A1	113235	broad.mit.edu	37	17	26732963	26732963	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:26732963T>G	uc002hbf.1	-	1	266	c.170A>C	c.(169-171)TAC>TCC	p.Y57S	SLC46A1_uc002hbg.1_Missense_Mutation_p.Y57S|SLC46A1_uc010wak.1_Missense_Mutation_p.Y57S	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	57					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GGTGCCATTGTAGCCGAGGTC	0.692		NaN											0	0	0	0.000248	0	3	17				
TRAF4	9618	broad.mit.edu	37	17	27076071	27076071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:27076071C>T	uc002hcs.2	+	7	997	c.889C>T	c.(889-891)CGA>TGA	p.R297*	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	297	Potential.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGAGCTTCGGCGAGAGCTGGA	0.617		NaN											0	0	0	0.003271	0	34	63				
CCDC55	84081	broad.mit.edu	37	17	28506137	28506137	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:28506137A>G	uc002heu.2	+	5	358	c.330A>G	c.(328-330)GCA>GCG	p.A110A	CCDC55_uc002hev.2_Silent_p.A56A|CCDC55_uc010wbl.1_Silent_p.A56A|CCDC55_uc010wbm.1_Silent_p.A56A|CCDC55_uc002hex.2_Silent_p.A56A	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	110	Necessary for alternative splicing activity.|Potential.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						TGCTAAAAGCAGTTGAGATCA	0.274		NaN											0	0	0	0.006214	0	7	17				
RHBDL3	162494	broad.mit.edu	37	17	30632423	30632423	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:30632423A>G	uc002hhe.1	+	7	859	c.845A>G	c.(844-846)TAT>TGT	p.Y282C	RHBDL3_uc010csw.1_Missense_Mutation_p.Y274C|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.Y184C|RHBDL3_uc002hhf.1_Missense_Mutation_p.Y184C	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	282	Helical; (Potential).				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGGGTGTATGCTCTCGTC	0.567		NaN											0	0	0	0.004878	0	37	97				
MMP28	79148	broad.mit.edu	37	17	34105915	34105915	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34105915C>A	uc002hjy.1	-	3	615	c.356G>T	c.(355-357)CGT>CTT	p.R119L	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.R119L	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	119					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGTTTCTTACGCCTCATTTT	0.507		NaN											1	0	4.90274e-10	0.00623	6.17001e-10	37	104				
CCL14	6358	broad.mit.edu	37	17	34310878	34310878	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34310878T>C	uc010wcr.1	-	3	320	c.241A>G	c.(241-243)AAG>GAG	p.K81E	CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.K97E|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14 isoform 1	81					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCACTTGTCACTGGGG	0.547		NaN											0	0	0	0.003271	0	32	102				
CDC6	990	broad.mit.edu	37	17	38458227	38458227	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38458227A>G	uc002huj.1	+	12	1867	c.1657A>G	c.(1657-1659)AAT>GAT	p.N553D		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	553					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TTTAATTGGAAATATCTTAGC	0.363		NaN											0	0	0	0.00361	0	48	131				
TOP2A	7153	broad.mit.edu	37	17	38567656	38567656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38567656C>T	uc002huq.2	-	9	1141	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N	TOP2A_uc002hur.1_5'UTR	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	339					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCACAACATCAACAAGTTTA	0.358		NaN											0	0	0	0.00361	0	58	287				
KRTAP1-5	83895	broad.mit.edu	37	17	39183134	39183134	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39183134C>T	uc002hvu.2	-	1	321	c.274G>A	c.(274-276)GGA>AGA	p.G92R		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	92	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCCAGTTCCGCAGGAGCTG	0.627		NaN											0	0	0	0.001984	0	7	62				
JUP	3728	broad.mit.edu	37	17	39925391	39925391	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39925391C>T	uc002hxq.2	-	4	814	c.537G>A	c.(535-537)CTG>CTA	p.L179L	JUP_uc010wfs.1_Silent_p.L179L|JUP_uc002hxr.2_Silent_p.L179L|JUP_uc002hxs.2_Silent_p.L179L	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	179					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGAGCCCATCAGGGCCCGCC	0.657		NaN											0	0	0	0.004007	0	16	42				
ACLY	47	broad.mit.edu	37	17	40025748	40025748	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40025748T>A	uc002hyg.2	-	26	3193	c.3030A>T	c.(3028-3030)GTA>GTT	p.V1010V	ACLY_uc002hyh.2_Silent_p.V1000V|ACLY_uc002hyi.2_Silent_p.V1064V|ACLY_uc010wfx.1_Silent_p.V1054V|ACLY_uc010wfy.1_Silent_p.V739V	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	1010					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TAATCTTCTCTACTTCCAGTG	0.438		NaN											0	0	0	0.00361	0	45	107				
WNK4	65266	broad.mit.edu	37	17	40947024	40947024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40947024C>T	uc002ibj.2	+	14	2606	c.2585C>T	c.(2584-2586)CCA>CTA	p.P862L	WNK4_uc010wgx.1_Missense_Mutation_p.P526L|WNK4_uc002ibk.1_Missense_Mutation_p.P634L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	862					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCAGCTCTCCACTTCCATTC	0.582		NaN											0	0	0	0.00361	0	51	121				
C17orf57	124989	broad.mit.edu	37	17	45455230	45455230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:45455230G>A	uc002iln.2	+	13	1882	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K	C17orf57_uc002ilm.2_Missense_Mutation_p.E395K|C17orf57_uc010daz.1_Missense_Mutation_p.E443K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	491	EF-hand 1.						calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TTTATTAGATGAAGAATTCCA	0.323		NaN											0	0	0	0.00278	0	22	71				
SPATA20	64847	broad.mit.edu	37	17	48628506	48628506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:48628506C>T	uc002irf.2	+	11	1624	c.1483C>T	c.(1483-1485)CGG>TGG	p.R495W	SPATA20_uc002irc.2_Missense_Mutation_p.R162W|SPATA20_uc002ire.2_Missense_Mutation_p.R451W|SPATA20_uc002ird.2_Missense_Mutation_p.R511W|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	495					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGAAGCATCGGCCCAAGCC	0.627		NaN									OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	21				
SFRS1	6426	broad.mit.edu	37	17	56082801	56082801	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:56082801G>A	uc002ivi.2	-	4	922	c.713C>T	c.(712-714)TCT>TTT	p.S238F	SFRS1_uc002ivj.2_3'UTR	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	238	Arg/Ser-rich (RS domain).|Interacts with SAFB1.			Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		ATGACGGGGAGAATAGCGTGG	0.468		NaN											0	0	0	0.00361	0	57	178				
CLTC	1213	broad.mit.edu	37	17	57763022	57763022	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:57763022A>C	uc002ixq.1	+	30	5123	c.4680A>C	c.(4678-4680)GAA>GAC	p.E1560D	CLTC_uc002ixp.2_Missense_Mutation_p.E1560D|CLTC_uc002ixr.1_Missense_Mutation_p.E1564D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1560	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTGCAGGAAGAAAAAAGAG	0.398		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	0.007835	0	38	110				
CSHL1	1444	broad.mit.edu	37	17	61987572	61987572	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:61987572C>T	uc002jda.1	-	4	483	c.421G>A	c.(421-423)GAC>AAC	p.D141N	CSHL1_uc002jcz.1_Missense_Mutation_p.D118N|CSHL1_uc002jdb.1_Missense_Mutation_p.D47N|CSHL1_uc002jdc.1_Missense_Mutation_p.D58N|CSHL1_uc002jdd.1_Missense_Mutation_p.D79N|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Missense_Mutation_p.D58N|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Missense_Mutation_p.D47N	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141						extracellular region	hormone activity|metal ion binding				0						AGGTGATAGTCATCGCTGTCC	0.592		NaN											0	0	0	0.002222	0	38	84				
RGS9	8787	broad.mit.edu	37	17	63156668	63156668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:63156668G>A	uc002jfe.2	+	5	437	c.327G>A	c.(325-327)TGG>TGA	p.W109*	RGS9_uc010dem.2_Nonsense_Mutation_p.W109*|RGS9_uc002jfd.2_Nonsense_Mutation_p.W109*|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	109					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CGTATTTCTGGCCCACCCAGC	0.468		NaN											0	0	0	0.004007	0	17	45				
ABCA5	23461	broad.mit.edu	37	17	67257837	67257837	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:67257837G>A	uc002jif.2	-	24	4586	c.3368C>T	c.(3367-3369)GCT>GTT	p.A1123V	ABCA5_uc002jib.2_Missense_Mutation_p.A89V|ABCA5_uc002jic.2_Missense_Mutation_p.A346V|ABCA5_uc002jid.2_Missense_Mutation_p.A40V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1123V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1123					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGTGAAAGAAGCAATATAAGT	0.274		NaN											0	0	0	0.000978	0	9	25				
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72249233G>A	uc002jkc.2	+	12	1304	c.1273G>A	c.(1273-1275)GAT>AAT	p.D425N	TTYH2_uc010wqw.1_Missense_Mutation_p.D404N|TTYH2_uc002jkd.2_Missense_Mutation_p.D104N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	425	Cytoplasmic (Potential).|Poly-Asp.					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						CAGAGACTACGATGACATTGA	0.572		NaN											0	0	0	0.00361	0	72	172				
DNAI2	64446	broad.mit.edu	37	17	72308171	72308171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72308171G>C	uc002jkf.2	+	12	1623	c.1524G>C	c.(1522-1524)AAG>AAC	p.K508N	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	508					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						GGCGAGAGAAGATCCTGGAGG	0.657		NaN							Kartagener_syndrome				0	0	0	0.00632	0	24	44				
GRIN2C	2905	broad.mit.edu	37	17	72838777	72838777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72838777G>A	uc002jlt.1	-	13	3655	c.3499C>T	c.(3499-3501)CAC>TAC	p.H1167Y	GRIN2C_uc010wrh.1_RNA	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	1167	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTGGAAGGTGAGGACAGACA	0.711		NaN											0	0	0	0.001168	0	6	11				
KIAA0195	9772	broad.mit.edu	37	17	73489996	73489996	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73489996C>T	uc002jnz.3	+	18	2681	c.2406C>T	c.(2404-2406)GAC>GAT	p.D802D	KIAA0195_uc010wsa.1_Silent_p.D812D|KIAA0195_uc010wsb.1_Silent_p.D442D|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	802					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGCTCTGACGGTACCTCAT	0.692		NaN											0	0	0	0.001368	0	7	29				
LLGL2	3993	broad.mit.edu	37	17	73559178	73559178	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559178C>T	uc002joh.2	+	7	766	c.612C>T	c.(610-612)ATC>ATT	p.I204I	LLGL2_uc002jog.1_Silent_p.I204I|LLGL2_uc010dgf.1_Silent_p.I204I|LLGL2_uc002joi.2_Silent_p.I204I|LLGL2_uc010dgg.1_Silent_p.I204I|LLGL2_uc002joj.2_Silent_p.I193I|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	204	WD 4.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657		NaN											0	0	0	0.00632	0	26	36				
LLGL2	3993	broad.mit.edu	37	17	73559467	73559467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559467C>G	uc002joh.2	+	8	903	c.749C>G	c.(748-750)TCT>TGT	p.S250C	LLGL2_uc002jog.1_Missense_Mutation_p.S250C|LLGL2_uc010dgf.1_Missense_Mutation_p.S250C|LLGL2_uc002joi.2_Missense_Mutation_p.S250C|LLGL2_uc010dgg.1_Missense_Mutation_p.S250C|LLGL2_uc002joj.2_Missense_Mutation_p.S239C|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	250	WD 5.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCTGTCACTCTGACGGCAGC	0.652		NaN											0	0	0	0.007413	0	17	61				
EVPL	2125	broad.mit.edu	37	17	74003727	74003727	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74003727G>A	uc002jqi.2	-	22	5787	c.5559C>T	c.(5557-5559)ATC>ATT	p.I1853I	EVPL_uc010wss.1_Silent_p.I1875I|EVPL_uc010wst.1_Silent_p.I1323I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1853	Globular 2.|Plectin 3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTGCCCAGTGATGGGGTCCA	0.612		NaN											0	0	0	0.00361	0	58	155				
SRP68	6730	broad.mit.edu	37	17	74068493	74068493	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74068493C>T	uc002jqk.1	-	1	115	c.80G>A	c.(79-81)AGC>AAC	p.S27N	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.S27N|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	27				Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						Tccaccgccgctaccgccgcc	0.378		NaN											0	0	0	0.008361	0	25	48				
EXOC7	23265	broad.mit.edu	37	17	74085384	74085384	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74085384C>A	uc002jqs.2	-	9	1167	c.1072G>T	c.(1072-1074)GAC>TAC	p.D358Y	EXOC7_uc010dgv.1_Missense_Mutation_p.D254Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D307Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D330Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D299Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D276Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D266Y	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	358					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTCCACGTCCAGCATGTCA	0.647		NaN											1	0	4.96729e-08	0.008871	6.16165e-08	20	32				
USP36	57602	broad.mit.edu	37	17	76817134	76817134	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:76817134G>T	uc002jvz.1	-	8	1092	c.767C>A	c.(766-768)TCC>TAC	p.S256Y	USP36_uc002jwa.1_Missense_Mutation_p.S256Y|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	256					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGCACACGGAGCACTTCAC	0.607		NaN											1	0	2.0095e-06	0.001984	2.46908e-06	7	3				
CARD14	79092	broad.mit.edu	37	17	78166356	78166356	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78166356G>T	uc002jxw.1	+	9	1489	c.1294G>T	c.(1294-1296)GTG>TTG	p.V432L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.V432L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.V195L|CARD14_uc010dhu.1_Missense_Mutation_p.V230L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	432					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCGGCTGGTGCGGATGCA	0.637		NaN											1	0	1.64293e-13	0.00333	2.11895e-13	25	72				
CHMP6	79643	broad.mit.edu	37	17	78970862	78970862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78970862A>G	uc002jyw.3	+	5	482	c.404A>G	c.(403-405)GAG>GGG	p.E135G		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	135	Potential.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGCCGTGGAGTACCAGCGG	0.632		NaN											0	0	0	0.00245	0	15	41				
HGS	9146	broad.mit.edu	37	17	79668080	79668080	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79668080C>T	uc002kbg.2	+	21	2219	c.2142C>T	c.(2140-2142)CTC>CTT	p.L714L	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	714	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACAGAATCTCATGACCACCC	0.602		NaN											0	0	0	0.001523	0	20	71				
NOTUM	147111	broad.mit.edu	37	17	79916822	79916822	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79916822G>A	uc010wvg.1	-	4	794	c.522C>T	c.(520-522)AAC>AAT	p.N174N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	174						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCATGTTTGCGTTCCACCAGT	0.602		NaN											0	0	0	0.007291	0	24	60				
MYL12A	10627	broad.mit.edu	37	18	3255845	3255845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3255845A>T	uc002klr.2	+	4	840	c.445A>T	c.(445-447)AAA>TAA	p.K149*	MYL12A_uc002kls.2_Nonsense_Mutation_p.K155*	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	149	EF-hand 3.					myosin complex	calcium ion binding|protein binding				0						ACCTATTGATAAAAAGGGGAA	0.433		NaN											0	0	0	0.001368	0	13	30				
DLGAP1	9229	broad.mit.edu	37	18	3499238	3499238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3499238G>A	uc002kmf.2	-	10	2946	c.2879C>T	c.(2878-2880)ACC>ATC	p.T960I	DLGAP1_uc002kme.1_Missense_Mutation_p.T658I|DLGAP1_uc010dkn.2_Missense_Mutation_p.T668I|DLGAP1_uc010wyw.1_Missense_Mutation_p.T666I|DLGAP1_uc010wyx.1_Missense_Mutation_p.T682I|DLGAP1_uc010wyy.1_Missense_Mutation_p.T644I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	960					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GGCGCTCTCGGTGGCCGAGTT	0.731		NaN											0	0	0	0.001368	0	9	21				
CEP192	55125	broad.mit.edu	37	18	13059227	13059227	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13059227G>C	uc010xac.1	+	21	4484	c.4404G>C	c.(4402-4404)TCG>TCC	p.S1468S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S993S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.S1209S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1468										ovary(4)|pancreas(1)	5						GGCCATGTTCGACAGATGCTG	0.468		NaN											0	0	0	0.00361	0	47	112				
CEP192	55125	broad.mit.edu	37	18	13069784	13069784	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13069784C>T	uc010xac.1	+	27	5183	c.5103C>T	c.(5101-5103)CTC>CTT	p.L1701L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L1226L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.L123L|CEP192_uc002krw.2_5'UTR	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1701										ovary(4)|pancreas(1)	5						AGAATCTACTCCTTAAACCTG	0.343		NaN											0	0	0	0.001786	0	30	62				
DSG2	1829	broad.mit.edu	37	18	29102165	29102165	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29102165A>C	uc002kwu.3	+	6	831	c.643A>C	c.(643-645)AAA>CAA	p.K215Q		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	215	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTACCTAAATAAAGATACAGG	0.388		NaN											0	0	0	0.00278	0	22	44				
MEP1B	4225	broad.mit.edu	37	18	29775413	29775413	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29775413C>T	uc002kxj.3	+	5	262	c.215C>T	c.(214-216)CCT>CTT	p.P72L		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	72	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						TATAGATGGCCTCATACCATT	0.328		NaN											0	0	0	0.008871	0	16	39				
KIAA1632	57724	broad.mit.edu	37	18	43487976	43487976	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:43487976G>A	uc002lbm.2	-	24	4376	c.4276C>T	c.(4276-4278)CTA>TTA	p.L1426L	KIAA1632_uc002lbo.1_Silent_p.L1426L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.L301L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1426					autophagy						0						TGCTTTGGTAGAGAAGGGATA	0.308		NaN											0	0	0	0.00361	0	47	124				
TCEB3C	162699	broad.mit.edu	37	18	44554662	44554662	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:44554662C>T	uc010xdb.1	-	1	1788	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						CGGGTTTTGTccgcgggcgcc	0.358		NaN											0	0	0	0.008871	0	12	449				
MAPK4	5596	broad.mit.edu	37	18	48190843	48190843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:48190843C>T	uc002lev.2	+	2	1515	c.515C>T	c.(514-516)GCA>GTA	p.A172V	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A172V	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	172	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCGGGTTGGCAAGGATCGTT	0.532		NaN											0	0	0	0.00278	0	24	86				
DSEL	92126	broad.mit.edu	37	18	65178545	65178545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:65178545G>A	uc002lke.1	-	2	4555	c.3331C>T	c.(3331-3333)CAC>TAC	p.H1111Y		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1101						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGCCACAAGTGAGACAAGAGG	0.388		NaN											0	0	0	0.004007	0	16	59				
ZADH2	284273	broad.mit.edu	37	18	72913707	72913707	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:72913707C>T	uc002llx.2	-	2	1066	c.798G>A	c.(796-798)TTG>TTA	p.L266L	ZADH2_uc010dqv.2_Silent_p.L143L	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	266						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTATTACTATCAAGCGCCCTT	0.507		NaN											0	0	0	0.004656	0	26	71				
C18orf22	79863	broad.mit.edu	37	18	77794534	77794534	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:77794534G>T	uc002lns.2	+	1	177	c.39G>T	c.(37-39)GCG>GCT	p.A13A	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.A13A|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	13					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GCTCCCGCGCGGGTCTCCGGG	0.706		NaN											1	0	1.12685e-05	0.004482	1.37805e-05	9	40				
MED16	10025	broad.mit.edu	37	19	872058	872058	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:872058G>T	uc002lqd.1	-	12	2117	c.1966C>A	c.(1966-1968)CGG>AGG	p.R656R	MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R645R|MED16_uc002lqf.2_Silent_p.R645R	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	656	WD 4.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCAATTCCCGAAGCATGCCC	0.662		NaN											1	0	1.52009e-12	0.003163	1.94123e-12	14	52				
HMHA1	23526	broad.mit.edu	37	19	1073267	1073267	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1073267G>T	uc002lqz.1	+	3	772	c.541G>T	c.(541-543)GGC>TGC	p.G181C	HMHA1_uc010xgd.1_Missense_Mutation_p.G197C|HMHA1_uc010xge.1_Missense_Mutation_p.G21C|HMHA1_uc002lra.1_Missense_Mutation_p.G21C|HMHA1_uc002lrb.1_Missense_Mutation_p.G64C	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGCAGCCGGCACCCTCAT	0.522		NaN											1	0	1.96292e-10	0.001523	2.48637e-10	21	57				
CIRBP	1153	broad.mit.edu	37	19	1270999	1270999	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1270999G>A	uc002lrr.3	+	2	216	c.67G>A	c.(67-69)GAG>AAG	p.E23K	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.W5*|CIRBP_uc002lrt.2_Missense_Mutation_p.E23K|CIRBP_uc010xgl.1_Missense_Mutation_p.E23K|CIRBP_uc002lrv.3_Missense_Mutation_p.E23K|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	23	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTCGCTGGAGCAGGTCTT	0.388		NaN											0	0	0	0.00361	0	72	180				
CREB3L3	84699	broad.mit.edu	37	19	4159761	4159761	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4159761G>A	uc002lzl.2	+	4	674	c.558G>A	c.(556-558)TCG>TCA	p.S186S	CREB3L3_uc002lzm.2_Silent_p.S176S|CREB3L3_uc010xib.1_Silent_p.S177S|CREB3L3_uc010xic.1_Silent_p.S177S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	186	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTTTCGGGCAGCAGTG	0.428		NaN											0	0	0	0.002096	0	29	74				
UBXN6	80700	broad.mit.edu	37	19	4453498	4453499	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4453498_4453499TC>GT	uc002man.1	-	3	364_365	c.268_269GA>AC	c.(268-270)GAA>ACA	p.E90T	UBXN6_uc010dty.1_Missense_Mutation_p.E37T|UBXN6_uc002mam.1_Missense_Mutation_p.E37T	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	90						microtubule organizing center|nucleus	protein binding				0						GACGGTGGCTTCGGCTTGAAGT	0.629		NaN											0	0	0	0.004672	0	12	33				
KIAA1543	57662	broad.mit.edu	37	19	7676817	7676817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:7676817G>A	uc002mgv.3	+	11	1539	c.1438G>A	c.(1438-1440)GAC>AAC	p.D480N	KIAA1543_uc002mgu.3_Missense_Mutation_p.D507N|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	480	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						TGGGGCGGCCGACGGCAGCTT	0.692		NaN											0	0	0	0.007413	0	17	48				
MUC16	94025	broad.mit.edu	37	19	9064866	9064866	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9064866G>T	uc002mkp.2	-	3	22784	c.22580C>A	c.(22579-22581)TCT>TAT	p.S7527Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7529	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTAGTGTTAGATAAGGCAGG	0.483		NaN											1	0	2.65835e-16	0.007291	3.44568e-16	29	66				
OR7G2	390882	broad.mit.edu	37	19	9213259	9213259	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9213259T>C	uc010xkk.1	-	1	724	c.724A>G	c.(724-726)ATC>GTC	p.I242V		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CAGGAGGTGATCTGAGTGTAA	0.448		NaN											0	0	0	0.007291	0	30	93				
SMARCA4	6597	broad.mit.edu	37	19	11094925	11094925	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:11094925G>A	uc002mqf.3	+	2	382	c.98G>A	c.(97-99)GGT>GAT	p.G33D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G33D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G33D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqe.2_Missense_Mutation_p.G33D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	33	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTAGCCCGGGTCCCTCGCCG	0.726		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.006214	0	10	46		Valid		
NANOS3	342977	broad.mit.edu	37	19	13988429	13988429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:13988429C>T	uc002mxj.3	+	1	480	c.367C>T	c.(367-369)CAC>TAC	p.H123Y		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	104	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGAGCGCGCCCACACCCGACG	0.652		NaN											0	0	0	0.000978	0	12	22				
AKAP8	10270	broad.mit.edu	37	19	15466028	15466028	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:15466028C>T	uc002nav.2	-	14	1838	c.1777G>A	c.(1777-1779)GGA>AGA	p.G593R	AKAP8_uc010dzy.2_Missense_Mutation_p.G142R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	593					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GCGGGCGCTCCTTCCCCATCT	0.617		NaN											0	0	0	0.00874	0	39	92				
MAP1S	55201	broad.mit.edu	37	19	17837423	17837423	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:17837423C>T	uc002nhe.1	+	5	1239	c.1230C>T	c.(1228-1230)GCC>GCT	p.A410A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.A410A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.A384A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	410	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCACGCTGGCCTCTGTGTGCG	0.726		NaN											0	0	0	0.000248	0	4	7				
UPF1	5976	broad.mit.edu	37	19	18965703	18965703	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:18965703G>A	uc002nkg.2	+	10	1589	c.1314G>A	c.(1312-1314)TTG>TTA	p.L438L	UPF1_uc002nkf.2_Silent_p.L427L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	438					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGAGCGCATTGAAAACGTTTG	0.587		NaN											0	0	0	0.00499	0	16	37				
ZNF101	94039	broad.mit.edu	37	19	19790184	19790184	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:19790184G>T	uc002nni.1	+	4	496	c.386G>T	c.(385-387)CGA>CTA	p.R129L	ZNF101_uc010ecg.1_Missense_Mutation_p.R9L|ZNF101_uc002nnj.1_Missense_Mutation_p.R9L	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGACACAAACGATCTGAGTGT	0.522		NaN											1	0	1.5548e-18	0.005443	2.03561e-18	28	62				
ZNF708	7562	broad.mit.edu	37	19	21493399	21493399	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:21493399C>T	uc002npq.1	-	2	232	c.34G>A	c.(34-36)GAA>AAA	p.E12K	ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AGAGAGAATTCTATGGCCACA	0.398		NaN											0	0	0	0.002836	0	33	109				
PDCD5	9141	broad.mit.edu	37	19	33072194	33072194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33072194G>A	uc002ntm.2	+	1	91	c.27G>A	c.(25-27)CTG>CTA	p.L9L	PDCD5_uc002ntl.2_Silent_p.L9L|PDCD5_uc010ede.2_RNA	NM_004708	NP_004699	O14737	PDCD5_HUMAN	programmed cell death 5	9					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			ovary(1)|lung(1)	2	Esophageal squamous(110;0.137)					TTGAGGCGCTGAGGAGACAGA	0.736		NaN											0	0	0	0.004482	0	7	11				
ANKRD27	84079	broad.mit.edu	37	19	33106574	33106574	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33106574G>A	uc002ntn.1	-	22	2321	c.2165C>T	c.(2164-2166)CCA>CTA	p.P722L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	722					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					CTTCTGAGCTGGGGCACACTT	0.438		NaN											0	0	0	0.008361	0	25	89				
UBA2	10054	broad.mit.edu	37	19	34919421	34919421	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:34919421C>T	uc002nvk.2	+	1	154	c.84C>T	c.(82-84)ATC>ATT	p.I28I	UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	28	ATP.				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCGGCATCGGCTGCGAGC	0.736		NaN											0	0	0	0.00245	0	12	29				
LSR	51599	broad.mit.edu	37	19	35758181	35758181	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35758181C>T	uc002nyl.2	+	9	1681	c.1458C>T	c.(1456-1458)GCC>GCT	p.A486A	LSR_uc002nym.2_Silent_p.A467A|LSR_uc002nyn.2_Silent_p.A418A|LSR_uc002nyo.2_Silent_p.A466A|LSR_uc010xsr.1_Silent_p.A378A|LSR_uc002nyp.2_Silent_p.A428A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	486	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			gctggcgggccaggcggcccc	0.577		NaN											0	0	0	0.004672	0	3	6				
CD22	933	broad.mit.edu	37	19	35823632	35823632	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35823632G>A	uc010edt.2	+	3	294	c.217G>A	c.(217-219)GGG>AGG	p.G73R	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.G73R|CD22_uc010edv.2_Missense_Mutation_p.G73R|CD22_uc002nzb.3_Missense_Mutation_p.G73R	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	73	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GAAGTTTGATGGGACAAGACT	0.473		NaN											0	0	0	0.00623	0	39	99				
LGALS4	3960	broad.mit.edu	37	19	39292541	39292541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:39292541G>C	uc002ojg.2	-	10	1049	c.835C>G	c.(835-837)CGC>GGC	p.R279G		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	279	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AAGCCACAGCGAATGGACAGC	0.562		NaN											0	0	0	0.00361	0	47	113				
EID2	163126	broad.mit.edu	37	19	40030040	40030040	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40030040A>C	uc002oma.2	-	1	799	c.680T>G	c.(679-681)CTT>CGT	p.L227R		NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	CREBBP/EP300 inhibitor 2	227					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ATCGCAACCAAGTTCTTCTAT	0.413		NaN											0	0	0	0.004656	0	25	80				
PRX	57716	broad.mit.edu	37	19	40901699	40901699	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40901699G>A	uc002onr.2	-	7	2829	c.2560C>T	c.(2560-2562)CTG>TTG	p.L854L	PRX_uc002onq.2_Silent_p.L715L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	854					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632		NaN											0	0	0	0.004656	0	26	90				
CIC	23152	broad.mit.edu	37	19	42797418	42797418	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:42797418G>A	uc002otf.1	+	15	3820	c.3780G>A	c.(3778-3780)AAG>AAA	p.K1260K		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCAGCGCCAAGGGCCCTGAGA	0.667		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.004672	0	3	9				
ZNF225	7768	broad.mit.edu	37	19	44635316	44635316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44635316G>C	uc002oyj.1	+	5	792	c.549G>C	c.(547-549)AAG>AAC	p.K183N	ZNF225_uc010eje.1_Missense_Mutation_p.K100N|ZNF225_uc010ejf.1_Missense_Mutation_p.K183N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	183	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AATGTGGAAAGAGTTTCTGTT	0.403		NaN											0	0	0	0.00278	0	25	91				
ZNF180	7733	broad.mit.edu	37	19	44980836	44980836	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44980836G>C	uc002ozf.3	-	5	2144	c.1862C>G	c.(1861-1863)ACT>AGT	p.T621S	ZNF180_uc002ozh.3_Missense_Mutation_p.T278S|ZNF180_uc002ozi.3_Missense_Mutation_p.T594S|ZNF180_uc002ozg.3_Missense_Mutation_p.T620S|ZNF180_uc010ejm.2_Missense_Mutation_p.T596S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	621	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				CTGATGTTGAGTAAGGCATGA	0.398		NaN											0	0	0	0.006999	0	43	89				
ERCC2	2068	broad.mit.edu	37	19	45871992	45871992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:45871992C>G	uc002pbj.2	-	5	303	c.256G>C	c.(256-258)GAG>CAG	p.E86Q	ERCC2_uc010ejz.2_Missense_Mutation_p.E86Q|ERCC2_uc002pbk.2_Missense_Mutation_p.E62Q|ERCC2_uc002pbl.3_Missense_Mutation_p.E62Q|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	86	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTTCGAAGCTCTTCAATCACC	0.562		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001984	0	7	26		Valid		
IGFL4	444882	broad.mit.edu	37	19	46543538	46543538	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46543538C>A	uc002pdy.1	-	3	261	c.207G>T	c.(205-207)TGG>TGT	p.W69C		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	69						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGAAGCAGGGCCAGAAGGTGC	0.592		NaN											1	0	3.7963e-18	0.00333	4.96195e-18	26	57				
HIF3A	64344	broad.mit.edu	37	19	46825102	46825102	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46825102A>C	uc002peh.2	+	10	1243	c.1214A>C	c.(1213-1215)GAC>GCC	p.D405A	HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGGCCGCTGACCCCCGCCGT	0.692		NaN											0	0	0	0.003271	0	10	131				
GRLF1	2909	broad.mit.edu	37	19	47422461	47422461	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47422461C>G	uc010ekv.2	+	1	529	c.529C>G	c.(529-531)CAG>GAG	p.Q177E		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	177					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CTTTGATGACCAGCTCAAGTT	0.443		NaN											0	0	0	0.002836	0	29	100				
DHX34	9704	broad.mit.edu	37	19	47865850	47865850	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47865850G>C	uc010xyn.1	+	6	1834	c.1493G>C	c.(1492-1494)GGA>GCA	p.G498A	DHX34_uc010elc.1_Missense_Mutation_p.G413A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	498	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACGGGCCCCGGAGTCTGCTTC	0.657		NaN											0	0	0	0.001855	0	12	27				
PPFIA3	8541	broad.mit.edu	37	19	49652416	49652416	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:49652416G>A	uc002pmr.2	+	26	3608	c.3276G>A	c.(3274-3276)CAG>CAA	p.Q1092Q	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.Q951Q|PPFIA3_uc002pmt.2_Silent_p.Q231Q|PPFIA3_uc002pmu.1_Silent_p.Q141Q	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	1092	SAM 3.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCCCACGCAGAATGCACAGG	0.677		NaN											0	0	0	0.006122	0	16	38				
RCN3	57333	broad.mit.edu	37	19	50031853	50031853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50031853G>A	uc002poj.2	+	2	571	c.124G>A	c.(124-126)GAC>AAC	p.D42N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	42						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCCCTGAGCGACGCTCCCCA	0.652		NaN											0	0	0	0.00874	0	41	111				
PNKP	11284	broad.mit.edu	37	19	50365522	50365522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50365522G>A	uc002pqh.2	-	11	1098	c.1046C>T	c.(1045-1047)TCA>TTA	p.S349L	PNKP_uc002pqg.2_Missense_Mutation_p.S130L|PNKP_uc002pqi.2_Missense_Mutation_p.S310L|PNKP_uc002pqj.2_Missense_Mutation_p.S349L|PNKP_uc010enm.2_Missense_Mutation_p.S318L|PNKP_uc002pqk.2_Missense_Mutation_p.S349L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	349					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GAGAGGCCCTGAGCGGGAGAC	0.607		NaN						Other_BER_factors					0	0	0	0.00308	0	7	19				
SHANK1	50944	broad.mit.edu	37	19	51169762	51169762	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:51169762C>G	uc002psx.1	-	22	5474	c.5455G>C	c.(5455-5457)GAG>CAG	p.E1819Q	SHANK1_uc002psw.1_Missense_Mutation_p.E1203Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1819					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACTTCTGGCTCTACAGCCACC	0.726		NaN											0	0	0	0.001984	0	7	14				
LENG9	94059	broad.mit.edu	37	19	54974069	54974069	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:54974069G>A	uc010yez.1	-	1	826	c.707C>T	c.(706-708)GCC>GTC	p.A236V		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	236					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCTCCTGGGCCGCCTCCAG	0.682		NaN											0	0	0	0.001786	0	30	52				
EPS8L1	54869	broad.mit.edu	37	19	55593171	55593171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:55593171G>C	uc002qis.3	+	9	909	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	EPS8L1_uc010ess.1_Missense_Mutation_p.E251Q|EPS8L1_uc010est.1_Missense_Mutation_p.E269Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.E205Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.E142Q|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	269						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGACGACGTAGAGAGCTTTGT	0.667		NaN											0	0	0	0.008871	0	19	48				
NLRP4	147945	broad.mit.edu	37	19	56388434	56388434	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56388434G>A	uc002qmd.3	+	8	3020	c.2598G>A	c.(2596-2598)CTG>CTA	p.L866L	NLRP4_uc002qmf.2_Silent_p.L791L|NLRP4_uc010etf.2_Silent_p.L641L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	866	LRR 6.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCAAAACCTGAAGATTCTGC	0.478		NaN											0	0	0	0.00361	0	58	172				
ZNF583	147949	broad.mit.edu	37	19	56935524	56935524	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56935524A>T	uc010ygl.1	+	5	1662	c.1497A>T	c.(1495-1497)AAA>AAT	p.K499N	ZNF583_uc002qnc.2_Missense_Mutation_p.K499N|ZNF583_uc010ygm.1_Missense_Mutation_p.K499N	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	499	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTGTGGGAAAGCATTTAGCT	0.393		NaN											0	0	0	0.006999	0	41	95				
ZNF264	9422	broad.mit.edu	37	19	57716855	57716855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:57716855G>A	uc002qob.2	+	3	664	c.251G>A	c.(250-252)TGT>TAT	p.C84Y		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGACACCTGTCCAGGTAGG	0.552		NaN											0	0	0	0.00308	0	7	27				
ZNF512	84450	broad.mit.edu	37	2	27821012	27821012	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:27821012G>A	uc002rla.2	+	3	255	c.168G>A	c.(166-168)TCG>TCA	p.S56S	ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Silent_p.S55S|ZNF512_uc002rlb.2_5'UTR|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_5'UTR|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_5'UTR	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGGTTCATCGTCTGCATCTT	0.408		NaN											0	0	0	0.003755	0	32	101				
PLB1	151056	broad.mit.edu	37	2	28824168	28824168	+	Missense_Mutation	SNP	G	G	T	rs146498076	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:28824168G>T	uc002rmb.1	+	37	2576	c.2576G>T	c.(2575-2577)GGC>GTC	p.G859V	PLB1_uc010ezj.1_Missense_Mutation_p.G848V|PLB1_uc002rme.1_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	859	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTGATCGGAGGCAGCGATTTA	0.453		NaN											1	0	6.21321e-17	0.00278	8.08029e-17	21	24				
BIRC6	57448	broad.mit.edu	37	2	32626450	32626450	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32626450G>A	uc010ezu.2	+	7	1388	c.1254G>A	c.(1252-1254)ATG>ATA	p.M418I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAAACTTATGAAGGTATGTT	0.358		NaN											0	0	0	0.00361	0	148	133				
BIRC6	57448	broad.mit.edu	37	2	32738069	32738069	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32738069G>T	uc010ezu.2	+	54	10550	c.10416G>T	c.(10414-10416)ATG>ATT	p.M3472I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3472					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTGGCAGGATGAACTACATGT	0.418		NaN											1	0	1.11015e-26	0.00361	1.49105e-26	54	45				
BIRC6	57448	broad.mit.edu	37	2	32832589	32832589	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32832589G>T	uc010ezu.2	+	72	14272	c.14138G>T	c.(14137-14139)CGG>CTG	p.R4713L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4713					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGATATGAACGGTCTAGAGGC	0.423		NaN											1	0	6.93263e-47	0.00361	9.44146e-47	118	90				
PLEKHH2	130271	broad.mit.edu	37	2	43989514	43989514	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:43989514A>C	uc010yny.1	+	28	4226	c.4143A>C	c.(4141-4143)TTA>TTC	p.L1381F		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1381	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAGCCTCTTAGAATACAACT	0.368		NaN											0	0	0	0.00361	0	58	38				
XPO1	7514	broad.mit.edu	37	2	61724137	61724137	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:61724137C>T	uc002sbj.2	-	10	1493	c.765G>A	c.(763-765)CTG>CTA	p.L255L	XPO1_uc010fcl.2_Silent_p.L251L|XPO1_uc010ypn.1_Silent_p.L251L|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	255	Necessary for HTLV-1 Rex-mediated mRNA export.|HEAT 2.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.L255L(1)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGGAACATTCAGGAACTATT	0.348		NaN											0	0	0	0.00361	0	47	24				
POLR1A	25885	broad.mit.edu	37	2	86325857	86325857	+	Silent	SNP	A	A	C	rs36023304		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:86325857A>C	uc002sqs.2	-	3	688	c.309T>G	c.(307-309)TCT>TCG	p.S103S	POLR1A_uc002sqv.2_Silent_p.S103S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	103					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGTTTAAACAAGAGCCCCGAA	0.498		NaN											0	0	0	0.00361	0	80	47				
CNNM3	26505	broad.mit.edu	37	2	97483118	97483118	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:97483118G>A	uc002swy.2	+	1	1128	c.1104G>A	c.(1102-1104)TTG>TTA	p.L368L	CNNM3_uc002swz.2_Silent_p.L368L	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	368	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						TCAAGGACTTGGCCTTCGTGG	0.602		NaN											0	0	0	0.00361	0	61	51				
IL1F10	84639	broad.mit.edu	37	2	113832888	113832888	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113832888A>G	uc002tiu.2	+	5	481	c.406A>G	c.(406-408)AAG>GAG	p.K136E	IL1F10_uc002tiv.2_Missense_Mutation_p.K136E|IL1F10_uc002tiw.2_Missense_Mutation_p.K128E	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	136						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						ACAGCTCACCAAGGAGAGTGA	0.597		NaN											0	0	0	0.00361	0	93	68				
PTPN18	26469	broad.mit.edu	37	2	131127379	131127379	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:131127379C>T	uc002trc.2	+	7	626	c.525C>T	c.(523-525)ACC>ACT	p.T175T	PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.T68T|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	175	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					TGCTCAGGACCCTCAAGGTCA	0.443		NaN											0	0	0	0.003755	0	33	27				
STAM2	10254	broad.mit.edu	37	2	152980445	152980445	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:152980445T>C	uc002tyc.3	-	13	1534	c.1184A>G	c.(1183-1185)TAT>TGT	p.Y395C		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	395					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGAACTGGATATGTCTATTA	0.358		NaN											0	0	0	0.00361	0	51	39				
KCNJ3	3760	broad.mit.edu	37	2	155555300	155555300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:155555300C>T	uc002tyv.1	+	1	208	c.13C>T	c.(13-15)CGA>TGA	p.R5*	KCNJ3_uc010zce.1_Nonsense_Mutation_p.R5*	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	5	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GTCTGCACTCCGAAGGAAATT	0.602		NaN											0	0	0	0.00361	0	48	50				
BAZ2B	29994	broad.mit.edu	37	2	160245986	160245986	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:160245986C>A	uc002uao.2	-	21	3438	c.3086G>T	c.(3085-3087)CGG>CTG	p.R1029L	BAZ2B_uc002uap.2_Missense_Mutation_p.R993L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1029	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGTTTCAACCGCTCTTTTTC	0.294		NaN											1	0	0.00010058	0.001368	0.000122425	12	37				
PDE11A	50940	broad.mit.edu	37	2	178936328	178936328	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:178936328C>A	uc002ulq.2	-	1	1155	c.837G>T	c.(835-837)CAG>CAT	p.Q279H	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	279	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCAGGGGACCTGCACCTCAT	0.522		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				1	0	3.07327e-39	0.00361	4.16361e-39	91	81				
TTN	7273	broad.mit.edu	37	2	179422610	179422610	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:179422610G>T	uc010zfg.1	-	277	79991	c.79767C>A	c.(79765-79767)CTC>CTA	p.L26589L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20284L|TTN_uc010zfi.1_Silent_p.L20217L|TTN_uc010zfj.1_Silent_p.L20092L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27516							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCCCATTTGAGAGTCACAC	0.428		NaN											1	0	7.99423e-63	0.00361	1.09446e-62	130	298				
RAPH1	65059	broad.mit.edu	37	2	204360028	204360028	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:204360028T>G	uc002vad.2	-	2	274	c.49A>C	c.(49-51)AGT>CGT	p.S17R	RAPH1_uc002vae.2_Missense_Mutation_p.S17R|RAPH1_uc002vaf.2_Missense_Mutation_p.S17R	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	17					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						TCCTTGTCACTGTCTTCTTCA	0.413		NaN											0	0	0	0.00361	0	73	64				
GPR1	2825	broad.mit.edu	37	2	207041473	207041473	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:207041473G>C	uc002vbl.3	-	3	885	c.499C>G	c.(499-501)CTA>GTA	p.L167V	GPR1_uc010fue.2_Missense_Mutation_p.L167V|GPR1_uc010fuf.2_Missense_Mutation_p.L167V	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	167	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CCGCCAATTAGAGAAGCCAAA	0.433		NaN											0	0	0	0.002096	0	33	35				
PRLH	51052	broad.mit.edu	37	2	238475309	238475309	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:238475309G>A	uc010znl.1	+	1	93	c.93G>A	c.(91-93)GAG>GAA	p.E31E		NM_015893	NP_056977	P81277	PRRP_HUMAN	prolactin releasing hormone precursor	31						extracellular region					0		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACTCCATGGAGATCCGCAGTG	0.652		NaN											0	0	0	0.004672	0	3	3				
ZCCHC3	85364	broad.mit.edu	37	20	279103	279103	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:279103G>T	uc002wdf.2	+	2	897	c.873G>T	c.(871-873)GGG>GGT	p.G291G	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	292							nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAGGTTTGGGATCTGGACCG	0.647		NaN											1	0	2.48696e-23	0.003271	3.31169e-23	34	106				
TBC1D20	128637	broad.mit.edu	37	20	419827	419827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:419827C>T	uc002wds.2	-	7	1019	c.881G>A	c.(880-882)AGA>AAA	p.R294K	TBC1D20_uc002wdv.2_Missense_Mutation_p.R117K|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	294					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GTCTCCTGCTCTGCTGATCAG	0.582		NaN											0	0	0	0.000978	0	12	43				
SNPH	9751	broad.mit.edu	37	20	1286301	1286301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:1286301C>G	uc002wes.2	+	6	1324	c.1088C>G	c.(1087-1089)TCA>TGA	p.S363*	SNPH_uc002wet.2_Nonsense_Mutation_p.S407*	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	363					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GACCCCAACTCAGCAGTGGTG	0.657		NaN											0	0	0	0.007413	0	20	71				
TGM6	343641	broad.mit.edu	37	20	2413168	2413168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:2413168C>A	uc002wfy.1	+	13	2061	c.2000C>A	c.(1999-2001)TCA>TAA	p.S667*	TGM6_uc010gal.1_Silent_p.L622L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	667					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GAGAGGGCCTCAGTCCAGTTT	0.587		NaN											1	0	1.36615e-20	0.002836	1.80378e-20	34	95				
OXT	5020	broad.mit.edu	37	20	3052881	3052881	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3052881G>A	uc002wht.1	+	2	315	c.279G>A	c.(277-279)GGG>GGA	p.G93G		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	93					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)	AGGCGTGCGGGAGCGGGGGCC	0.766		NaN											0	0	0	0.001855	0	13	28				
CENPB	1059	broad.mit.edu	37	20	3766484	3766484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3766484C>T	uc002wjk.2	-	1	854	c.647G>A	c.(646-648)GGA>GAA	p.G216E	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	216					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						ACGCGGCCGTCCGTCGCCTCC	0.706		NaN											0	0	0	0.003755	0	32	116				
JAG1	182	broad.mit.edu	37	20	10639244	10639244	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:10639244T>A	uc002wnw.2	-	4	1082	c.566A>T	c.(565-567)GAC>GTC	p.D189V		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	189	Extracellular (Potential).|DSL.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ATAGTAGTAGTCATCACAGGT	0.527		NaN							Alagille_Syndrome				0	0	0	0.005524	0	37	95				
C20orf160	140706	broad.mit.edu	37	20	30602794	30602794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30602794C>T	uc002wxf.2	+	2	131	c.118C>T	c.(118-120)CAC>TAC	p.H40Y		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	40										central_nervous_system(3)|ovary(1)	4						CCGGCCCCTGCACTCGATGCC	0.637		NaN											0	0	0	0.00361	0	58	133				
SLC2A10	81031	broad.mit.edu	37	20	45355551	45355551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:45355551G>A	uc002xsl.2	+	3	1434	c.1337G>A	c.(1336-1338)AGA>AAA	p.R446K		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	446	Helical; Name=11; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ATACGAGGAAGAGCCTTCGCC	0.562		NaN											0	0	0	0.003214	0	48	137				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:46279860G>A	uc002xtk.2	+	20	3991	c.3786G>A	c.(3784-3786)CAG>CAA	p.Q1262Q	NCOA3_uc010ght.1_Silent_p.Q1253Q|NCOA3_uc002xtl.2_Silent_p.Q1258Q|NCOA3_uc002xtm.2_Silent_p.Q1257Q|NCOA3_uc002xtn.2_Silent_p.Q1261Q|NCOA3_uc010zyc.1_Silent_p.Q1057Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1262	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						agcagcagcagcagcaacagc	0.308		NaN											0	0	0	0.001168	0	5	70				
GNAS	2778	broad.mit.edu	37	20	57485061	57485061	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:57485061G>A	uc002xzw.2	+	11	3109	c.2824G>A	c.(2824-2826)GAG>AAG	p.E942K	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E240K|GNAS_uc002xzx.2_Missense_Mutation_p.E240K|GNAS_uc010gjr.2_Missense_Mutation_p.E190K|GNAS_uc002xzy.2_Missense_Mutation_p.E225K|GNAS_uc002yaa.2_Missense_Mutation_p.E285K|GNAS_uc010zzt.1_Missense_Mutation_p.E300K|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E190K|GNAS_uc002yae.2_Missense_Mutation_p.E224K	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	299					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCTCGCTGAGAAAGTCCT	0.507		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	0.00361	0	67	162				
GMEB2	26205	broad.mit.edu	37	20	62229137	62229137	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62229137G>A	uc002yfp.1	-	4	913	c.434C>T	c.(433-435)GCC>GTC	p.A145V	GMEB2_uc002yfo.1_Missense_Mutation_p.A67V|GMEB2_uc002yfq.1_Missense_Mutation_p.A145V	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	145	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CATGCGGATGGCTCTCTTCCA	0.597		NaN											0	0	0	0.005443	0	24	48				
CLDN17	26285	broad.mit.edu	37	21	31538933	31538933	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:31538933C>T	uc011acv.1	-	1	3	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	1	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GATAAAATGCCATTGCCTTTA	0.468		NaN											0	0	0	0.00245	0	15	59				
GCFC1	94104	broad.mit.edu	37	21	34131446	34131446	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:34131446A>C	uc002yqn.2	-	7	1518	c.1328T>G	c.(1327-1329)TTT>TGT	p.F443C	GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F443C	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	443						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TTCTTGCAAAAATTTATACCG	0.408		NaN											0	0	0	0.00361	0	64	156				
BRWD1	54014	broad.mit.edu	37	21	40574387	40574387	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:40574387C>T	uc002yxk.1	-	38	4588	c.4449G>A	c.(4447-4449)AGG>AGA	p.R1483R	BRWD1_uc010goc.1_Silent_p.R126R|BRWD1_uc002yxl.2_Silent_p.R1483R|BRWD1_uc010god.1_Silent_p.R401R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAAGCTGTCCTACTTGAGG	0.428		NaN											0	0	0	0.003954	0	25	50				
MX2	4600	broad.mit.edu	37	21	42780076	42780076	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:42780076G>A	uc002yzf.1	+	14	2168	c.2064G>A	c.(2062-2064)AAG>AAA	p.K688K	MX2_uc002yzg.1_Silent_p.K411K|MX2_uc010gop.1_Silent_p.K170K	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	688	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCGCTACCAAGAGAAGAATCC	0.502		NaN											0	0	0	0.00361	0	54	65				
PCNT	5116	broad.mit.edu	37	21	47769713	47769713	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:47769713C>T	uc002zji.3	+	8	1430	c.1323C>T	c.(1321-1323)AGC>AGT	p.S441S	PCNT_uc002zjj.2_Silent_p.S323S|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	441	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TCAAAGAGAGCGAGAAAGAAA	0.433		NaN											0	0	0	0.007835	0	41	66				
CCT8L2	150160	broad.mit.edu	37	22	17072837	17072837	+	Missense_Mutation	SNP	G	G	T	rs142343817		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:17072837G>T	uc002zlp.1	-	1	864	c.604C>A	c.(604-606)CGT>AGT	p.R202S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	202					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCCCAACACGCTCAGGCTTG	0.612		NaN											1	0	7.68411e-24	0.008361	1.02499e-23	29	122				
BCL2L13	23786	broad.mit.edu	37	22	18185037	18185037	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:18185037A>C	uc002zmw.2	+	6	703	c.485A>C	c.(484-486)CAA>CCA	p.Q162P	BCL2L13_uc002zmu.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmv.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_5'UTR|BCL2L13_uc011agk.1_Missense_Mutation_p.Q38P|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	162					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TTGCTACGACAAATGCTTTTG	0.398		NaN											0	0	0	0.002222	0	38	162				
TRMT2A	27037	broad.mit.edu	37	22	20103676	20103676	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:20103676C>T	uc002zrk.1	-	3	699	c.484G>A	c.(484-486)GAG>AAG	p.E162K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E162K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.E162K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E162K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	162					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						ACTGGTGGCTCACTCTCACCC	0.647		NaN											0	0	0	0.002522	0	46	51				
ZNRF3	84133	broad.mit.edu	37	22	29445244	29445244	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:29445244C>G	uc003aeg.2	+	8	940	c.775C>G	c.(775-777)CAG>GAG	p.Q259E	ZNRF3_uc003aeh.1_Missense_Mutation_p.Q259E	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	359	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						ACGTGGTCGGCAGCAGAGGGT	0.612		NaN											0	0	0	0.004878	0	38	124				
SLC35E4	339665	broad.mit.edu	37	22	31042720	31042720	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:31042720C>G	uc003ais.1	+	2	1400	c.755C>G	c.(754-756)TCT>TGT	p.S252C	SLC35E4_uc003ait.2_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	252	Leu-rich.					integral to membrane					0						GCTGGCGACTCTCGCCTCTGG	0.667		NaN											0	0	0	0.001368	0	12	47				
PLA2G6	8398	broad.mit.edu	37	22	38536057	38536057	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:38536057A>T	uc003auy.1	-	5	865	c.729T>A	c.(727-729)AAT>AAA	p.N243K	PLA2G6_uc003auz.1_Missense_Mutation_p.N243K|PLA2G6_uc003ava.1_Missense_Mutation_p.N243K|PLA2G6_uc003avb.2_Missense_Mutation_p.N243K|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	243	ANK 3.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCACCGAGCATTGCACAGCA	0.627		NaN											0	0	0	0.000978	0	11	46				
TTLL12	23170	broad.mit.edu	37	22	43570554	43570554	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:43570554C>T	uc003bdq.2	-	7	1017	c.985G>A	c.(985-987)GAG>AAG	p.E329K	TTLL12_uc003bdr.1_Missense_Mutation_p.E329K	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	329	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				GCGTCCGCCTCACTCTGGGTG	0.657		NaN											0	0	0	0.003271	0	32	105				
CHL1	10752	broad.mit.edu	37	3	367669	367669	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:367669A>T	uc003bou.2	+	4	390	c.119A>T	c.(118-120)CAG>CTG	p.Q40L	CHL1_uc003bot.2_Missense_Mutation_p.Q40L|CHL1_uc003bow.1_Missense_Mutation_p.Q40L|CHL1_uc011asi.1_Missense_Mutation_p.Q40L	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	40	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCATAAAACAGTCAAAAGTC	0.338		NaN											0	0	0	0.000978	0	12	39				
LRRN1	57633	broad.mit.edu	37	3	3886380	3886380	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886380A>T	uc003bpt.3	+	2	816	c.55A>T	c.(55-57)ATG>TTG	p.M19L	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	19						integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGGCCTACTAATGACTTCATT	0.458		NaN											0	0	0	0.008361	0	31	63				
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	G	A	rs140162397		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886395G>A	uc003bpt.3	+	2	831	c.70G>A	c.(70-72)GAG>AAG	p.E24K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	24						integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473		NaN											0	0	0	0.004289	0	37	69				
NR1D2	9975	broad.mit.edu	37	3	24018855	24018855	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:24018855G>T	uc003ccs.2	+	8	2004	c.1685G>T	c.(1684-1686)CGA>CTA	p.R562L	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R487L	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						CCAGATCTTCGATCTTTAAAC	0.373		NaN											1	0	9.55421e-19	0.00361	1.25722e-18	47	108				
SCN11A	11280	broad.mit.edu	37	3	38962614	38962614	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:38962614T>G	uc011ays.1	-	6	1044	c.845A>C	c.(844-846)AAA>ACA	p.K282T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	282	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAGATGCATTTCAGGTTCAG	0.443		NaN											0	0	0	0.00361	0	107	174				
COL7A1	1294	broad.mit.edu	37	3	48618755	48618755	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:48618755C>T	uc003ctz.2	-	51	4838	c.4837G>A	c.(4837-4839)GGA>AGA	p.G1613R	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1613	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTCTCTCCAGGAGGCCCT	0.652		NaN											0	0	0	0.00499	0	16	31				
SPATA12	353324	broad.mit.edu	37	3	57107939	57107939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:57107939C>T	uc003dij.1	+	2	892	c.217C>T	c.(217-219)CAG>TAG	p.Q73*	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	73											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GCTGACATTTCAGGGGGATGT	0.532		NaN											0	0	0	0.001786	0	32	43				
ABHD6	57406	broad.mit.edu	37	3	58255096	58255096	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58255096G>A	uc003djs.3	+	4	735	c.325G>A	c.(325-327)GAG>AAG	p.E109K	ABHD6_uc003djr.2_Missense_Mutation_p.E109K|ABHD6_uc003djt.3_Missense_Mutation_p.E109K	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	109	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GCCAGGACATGAGGGCACCAC	0.532		NaN											0	0	0	0.007413	0	13	31				
C3orf67	200844	broad.mit.edu	37	3	58856020	58856020	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58856020C>T	uc003dkt.1	-	8	765	c.356G>A	c.(355-357)AGA>AAA	p.R119K	C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_Missense_Mutation_p.R27K	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	119											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTGTTCCTCTGTTAATGAA	0.378		NaN											0	0	0	0.008871	0	20	25				
OR5AC2	81050	broad.mit.edu	37	3	97806060	97806060	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:97806060T>G	uc011bgs.1	+	1	44	c.44T>G	c.(43-45)GTT>GGT	p.V15G		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACAGAGTTTGTTCTCACAGGA	0.403		NaN											0	0	0	0.00361	0	62	149				
TOMM70A	9868	broad.mit.edu	37	3	100103344	100103344	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100103344C>T	uc003dtw.2	-	4	1146	c.714G>A	c.(712-714)GAG>GAA	p.E238E		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	238	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTTTGGCTTTCTCTTTTCCAA	0.363		NaN											0	0	0	0.003271	0	33	86				
IMPG2	50939	broad.mit.edu	37	3	100961559	100961559	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100961559C>T	uc003duq.1	-	14	3198	c.2995G>A	c.(2995-2997)GAT>AAT	p.D999N	IMPG2_uc011bhe.1_Missense_Mutation_p.D862N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	999	Extracellular (Potential).|SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTATTTATCAATAGCCAAG	0.398		NaN											0	0	0	0.002836	0	32	69				
ABHD10	55347	broad.mit.edu	37	3	111697910	111697910	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:111697910T>G	uc003dyk.3	+	1	83	c.2T>G	c.(1-3)ATG>AGG	p.M1R	ABHD10_uc011bhq.1_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	1						mitochondrion	serine-type peptidase activity				0						ACTACGAAGATGGCGGTTGCG	0.672		NaN											0	0	0	0.003163	0	12	49				
PARP14	54625	broad.mit.edu	37	3	122437771	122437771	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:122437771C>T	uc003efq.3	+	14	4832	c.4773C>T	c.(4771-4773)CAC>CAT	p.H1591H	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.H1308H|PARP14_uc003efs.1_Silent_p.H1308H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1591	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGGGCCACAGTTTATCTG	0.393		NaN											0	0	0	0.00308	0	8	38				
MYLK	4638	broad.mit.edu	37	3	123367843	123367843	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:123367843A>T	uc003ego.2	-	26	4672	c.4390T>A	c.(4390-4392)TAC>AAC	p.Y1464N	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.Y264N|MYLK_uc011bjw.1_Missense_Mutation_p.Y1464N|MYLK_uc003egp.2_Missense_Mutation_p.Y1395N|MYLK_uc003egq.2_Missense_Mutation_p.Y1464N|MYLK_uc003egr.2_Missense_Mutation_p.Y1395N|MYLK_uc003egs.2_Missense_Mutation_p.Y1288N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1464	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATGTCGTAGAAGTCAGAT	0.517		NaN											0	0	0	0.007291	0	28	114				
PPP2R3A	5523	broad.mit.edu	37	3	135721464	135721464	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:135721464A>T	uc003eqv.1	+	2	1689	c.1124A>T	c.(1123-1125)AAT>ATT	p.N375I	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	375					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						AACTCCACAAATTCCTTATAT	0.363		NaN											0	0	0	0.00333	0	25	67				
TXNDC6	347736	broad.mit.edu	37	3	138024902	138024902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:138024902C>G	uc003esg.2	-	8	608	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E109Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E133Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	194	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						ATGGTTCTCTCTTCATTTGTT	0.373		NaN											0	0	0	0.002522	0	40	129				
TRIM42	287015	broad.mit.edu	37	3	140397361	140397361	+	Missense_Mutation	SNP	G	G	A	rs144112519		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:140397361G>A	uc003eto.1	+	1	481	c.290G>A	c.(289-291)CGC>CAC	p.R97H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	97						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CGCTGCTGCCGCAATACCATC	0.542		NaN											0	0	0	0.00278	0	22	41				
XRN1	54464	broad.mit.edu	37	3	142140317	142140317	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:142140317C>T	uc003eus.2	-	9	1102	c.1035_splice	c.e9+1	p.D345_splice	XRN1_uc003eut.2_Splice_Site_p.D345_splice|XRN1_uc003euu.2_Splice_Site_p.D345_splice|XRN1_uc003euv.1_Splice_Site_p.D206_splice|XRN1_uc003euw.2_Splice_Site_p.D345_splice|XRN1_uc011bnh.1_Splice_Site_p.D135_splice	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TAGTTACTTACATCTGATAGT	0.318		NaN											0	0	0	0.001984	0	6	40				
PLOD2	5352	broad.mit.edu	37	3	145796998	145796998	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:145796998C>T	uc003evs.1	-	13	1911	c.1405G>A	c.(1405-1407)GGA>AGA	p.G469R	PLOD2_uc003evq.1_Missense_Mutation_p.G129R|PLOD2_uc011bnm.1_Missense_Mutation_p.G414R|PLOD2_uc003evr.1_Missense_Mutation_p.G469R	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	469					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	AGTGTCTTTCCTTTAATTAAG	0.348		NaN											0	0	0	0.005443	0	29	53				
HPS3	84343	broad.mit.edu	37	3	148863304	148863304	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:148863304C>T	uc003ewu.1	+	5	1274	c.1134C>T	c.(1132-1134)CTC>CTT	p.L378L	HPS3_uc003ewt.1_Silent_p.L378L|HPS3_uc011bnq.1_Silent_p.L213L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	378						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGGCAGTACTCACGCCACAAT	0.413		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.00361	0	50	107				
MED12L	116931	broad.mit.edu	37	3	151102873	151102873	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:151102873C>T	uc003eyp.2	+	34	4915	c.4877C>T	c.(4876-4878)CCT>CTT	p.P1626L	MED12L_uc011bnz.1_Missense_Mutation_p.P1486L|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.P789L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTTACTACCTTTGCCGAAA	0.388		NaN											0	0	0	0.00361	0	52	161				
SGEF	26084	broad.mit.edu	37	3	153847391	153847391	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:153847391G>A	uc011bog.1	+	4	1363	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K	SGEF_uc011boh.1_Silent_p.K384K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	384					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAACTACAAGGAAAAGGCCC	0.363		NaN											0	0	0	0.00308	0	7	16				
SLITRK3	22865	broad.mit.edu	37	3	164907052	164907052	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:164907052C>G	uc003fej.3	-	2	2011	c.1567G>C	c.(1567-1569)GCC>CCC	p.A523P	SLITRK3_uc003fek.2_Missense_Mutation_p.A523P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	523	LRR 11.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCAGCAAAGGCGTCTGTTGGC	0.522		NaN								HNSCC(40;0.11)			0	0	0	0.007413	0	19	52				
CCDC39	339829	broad.mit.edu	37	3	180372711	180372711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180372711C>G	uc010hxe.2	-	7	884	c.769G>C	c.(769-771)GAA>CAA	p.E257Q	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	257	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTCTTTTTCTCTCGTTTCC	0.294		NaN											0	0	0	0.00308	0	8	30				
CCDC39	339829	broad.mit.edu	37	3	180397161	180397161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180397161C>A	uc010hxe.2	-	1	123	c.8G>T	c.(7-9)AGC>ATC	p.S3I	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	3					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGAATTCGCTACTCATGAC	0.552		NaN											1	0	2.10328e-26	0.00361	2.81522e-26	73	194				
CCDC50	152137	broad.mit.edu	37	3	191098675	191098675	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:191098675G>A	uc003fsw.2	+	8	1258	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	CCDC50_uc003fsv.2_Missense_Mutation_p.R399Q	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	223	Lys-rich.					cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCCAAGGAGCGGGAGAAATCA	0.368		NaN											0	0	0	0.001855	0	12	20				
FYTTD1	84248	broad.mit.edu	37	3	197476889	197476889	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:197476889C>T	uc003fyi.2	+	1	266	c.47C>T	c.(46-48)TCG>TTG	p.S16L	KIAA0226_uc003fyd.3_5'Flank|KIAA0226_uc003fyf.2_5'Flank|FYTTD1_uc011bui.1_Intron|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'Flank	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	16					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GCGACTTCTTCGCCGCCGCCG	0.652		NaN											0	0	0	0.004656	0	21	19				
MFSD7	84179	broad.mit.edu	37	4	682809	682809	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:682809G>A	uc003gay.2	-	1	165	c.108C>T	c.(106-108)ATC>ATT	p.I36I	MFSD7_uc003gax.2_Silent_p.I36I|MFSD7_uc003gaz.2_Silent_p.I36I|MFSD7_uc003gba.2_Silent_p.I36I|MFSD7_uc003gbb.1_5'Flank	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	36	Helical; (Potential).				transmembrane transport	integral to membrane					0						TGAGCAGGCTGATCGCGAGCA	0.721		NaN											0	0	0	0.00245	0	13	19				
WHSC1	7468	broad.mit.edu	37	4	1957573	1957573	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:1957573A>G	uc003gdz.3	+	14	2848	c.2672A>G	c.(2671-2673)TAC>TGC	p.Y891C	WHSC1_uc003geb.3_Missense_Mutation_p.Y891C|WHSC1_uc003gec.3_Missense_Mutation_p.Y891C|WHSC1_uc003ged.3_Missense_Mutation_p.Y891C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.Y110C|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.Y239C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	891	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTGGGAACTACAGGTGTGAG	0.433		NaN	T	IGH@	MM								0	0	0	0.008361	0	30	47				
DOK7	285489	broad.mit.edu	37	4	3475151	3475151	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:3475151T>C	uc003ghd.2	+	3	189	c.119T>C	c.(118-120)GTC>GCC	p.V40A	DOK7_uc003ghe.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	40	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGATGCTGGTCTACAAGGAC	0.687		NaN											0	0	0	0.004007	0	16	94				
LDB2	9079	broad.mit.edu	37	4	16597444	16597444	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:16597444A>C	uc003goz.2	-	3	606	c.290T>G	c.(289-291)GTG>GGG	p.V97G	LDB2_uc003gpa.2_Missense_Mutation_p.V97G|LDB2_uc003gpb.2_Missense_Mutation_p.V97G|LDB2_uc011bxh.1_Missense_Mutation_p.V97G|LDB2_uc010iee.2_Missense_Mutation_p.V97G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	97							LIM domain binding|transcription cofactor activity				0						CAGGTCGGTCACCCCTCCTTC	0.493		NaN											0	0	0	0.004482	0	5	63				
PDS5A	23244	broad.mit.edu	37	4	39850583	39850583	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:39850583T>C	uc003guv.3	-	28	3767	c.3227A>G	c.(3226-3228)TAT>TGT	p.Y1076C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y1036C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1076					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						ACATACTGTATACAGTTTCTA	0.313		NaN											0	0	0	0.001168	0	6	25				
GNPDA2	132789	broad.mit.edu	37	4	44709782	44709782	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:44709782C>T	uc003gwy.2	-	6	913	c.756G>A	c.(754-756)GTG>GTA	p.V252V	GNPDA2_uc010iga.2_Silent_p.V218V|GNPDA2_uc011bzb.1_Silent_p.V182V|GNPDA2_uc003gwz.1_Silent_p.V252V	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	252					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						TAAAGTATTTCACAGTTTTAA	0.388		NaN											0	0	0	0.001368	0	10	21				
FRYL	285527	broad.mit.edu	37	4	48578237	48578237	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:48578237C>T	uc003gyh.1	-	24	3136	c.2531G>A	c.(2530-2532)AGC>AAC	p.S844N	FRYL_uc003gyk.2_Missense_Mutation_p.S844N	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ATTGATGGGGCTACTAAGGAA	0.323		NaN											0	0	0	0.00278	0	20	65				
AASDH	132949	broad.mit.edu	37	4	57215543	57215543	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57215543G>T	uc003hbn.2	-	11	2527	c.2374C>A	c.(2374-2376)CAT>AAT	p.H792N	AASDH_uc010ihb.2_Missense_Mutation_p.H307N|AASDH_uc011caa.1_Missense_Mutation_p.H639N|AASDH_uc003hbo.2_Missense_Mutation_p.H692N|AASDH_uc011cab.1_Missense_Mutation_p.H307N|AASDH_uc010ihc.2_Missense_Mutation_p.H792N|AASDH_uc003hbp.2_Missense_Mutation_p.H792N	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	792					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCATTCTATGAGAATGGGAA	0.418		NaN											1	0	1.88708e-17	0.008361	2.45826e-17	31	112				
YTHDC1	91746	broad.mit.edu	37	4	69196015	69196015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:69196015G>A	uc003hdx.2	-	8	1489	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M	YTHDC1_uc003hdy.2_Missense_Mutation_p.T361M	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	379	YTH.									upper_aerodigestive_tract(1)|ovary(1)	2						TACAGGGAGCGTGGACCATAC	0.318		NaN											0	0	0	0.003163	0	13	26				
AMBN	258	broad.mit.edu	37	4	71459051	71459051	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459051T>C	uc003hfl.2	+	2	98	c.23T>C	c.(22-24)CTT>CCT	p.L8P		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	8					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			TAGATTCCACTTTTCAAAATG	0.353		NaN											0	0	0	0.001855	0	12	83				
AMBN	258	broad.mit.edu	37	4	71459067	71459067	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459067C>T	uc003hfl.2	+	2	114	c.39C>T	c.(37-39)GAC>GAT	p.D13D		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	13					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			AAATGAAGGACCTGATACTGA	0.343		NaN											0	0	0	0.001523	0	17	98				
FRAS1	80144	broad.mit.edu	37	4	79367924	79367924	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:79367924G>A	uc003hlb.2	+	43	6340	c.5900G>A	c.(5899-5901)AGA>AAA	p.R1967K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1966	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGCCCCTCAGAGTGCAGCTG	0.433		NaN											0	0	0	0.001855	0	13	25				
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:81123531C>T	uc010ijo.2	+	8	1754	c.915C>T	c.(913-915)ATC>ATT	p.I305I	PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCGACGGCATCGCCACGGGCG	0.607		NaN									OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	17				
HNRNPD	3184	broad.mit.edu	37	4	83280703	83280703	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83280703G>A	uc003hmm.1	-	3	698	c.380C>T	c.(379-381)ACT>ATT	p.T127I	HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.T108I|HNRNPD_uc003hmo.1_Missense_Mutation_p.T127I|HNRNPD_uc003hmp.1_Missense_Mutation_p.T108I|HNRNPD_uc010ijr.1_Missense_Mutation_p.T108I|HNRNPD_uc011cci.1_Intron	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D	127	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding				0						TAACTTCAGAGTGCAGTCTAC	0.408		NaN											0	0	0	0.00632	0	28	84				
SEC31A	22872	broad.mit.edu	37	4	83778203	83778203	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83778203T>C	uc003hnf.2	-	16	1947	c.1783A>G	c.(1783-1785)ATG>GTG	p.M595V	SEC31A_uc003hne.2_Missense_Mutation_p.M328V|SEC31A_uc011ccl.1_Missense_Mutation_p.M556V|SEC31A_uc003hnl.2_Missense_Mutation_p.M556V|SEC31A_uc003hng.2_Missense_Mutation_p.M595V|SEC31A_uc003hnh.2_Missense_Mutation_p.M595V|SEC31A_uc003hni.2_Missense_Mutation_p.M595V|SEC31A_uc003hnj.2_Missense_Mutation_p.M556V|SEC31A_uc011ccm.1_Missense_Mutation_p.M590V|SEC31A_uc011ccn.1_Missense_Mutation_p.M595V|SEC31A_uc003hnk.2_Missense_Mutation_p.M556V|SEC31A_uc003hnm.2_Missense_Mutation_p.M595V|SEC31A_uc003hnn.1_Missense_Mutation_p.M595V	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	595					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GCATCGGCCATGCGGTTATCA	0.418		NaN											0	0	0	0.001882	0	23	61				
HELQ	113510	broad.mit.edu	37	4	84364763	84364763	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:84364763C>T	uc003hom.2	-	6	1649	c.1470G>A	c.(1468-1470)ACG>ACA	p.T490T	HELQ_uc010ikb.2_Silent_p.T423T|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_Intron	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	490	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TAATTTGAGTCGTTTCTAAAA	0.289		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.00245	0	15	30				
WDFY3	23001	broad.mit.edu	37	4	85687004	85687004	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:85687004T>A	uc003hpd.2	-	32	5555	c.5147A>T	c.(5146-5148)CAG>CTG	p.Q1716L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1716						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAATCTGTCTGTTCAAGCCA	0.378		NaN											0	0	0	0.002299	0	22	79				
SLC10A6	345274	broad.mit.edu	37	4	87770173	87770173	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:87770173G>A	uc003hqd.2	-	1	244	c.96C>T	c.(94-96)CTC>CTT	p.L32L		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	32	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGTGAAAACGAGCTCCAGGT	0.562		NaN											0	0	0	0.00278	0	24	61				
PPP3CA	5530	broad.mit.edu	37	4	102267947	102267947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:102267947C>T	uc011cen.1	-	1	682	c.7G>A	c.(7-9)GAG>AAG	p.E3K	PPP3CA_uc003hvu.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilj.2_Missense_Mutation_p.E3K|PPP3CA_uc003hvt.2_5'UTR|PPP3CA_uc003hvs.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilk.2_Missense_Mutation_p.E3K|uc003hvw.2_5'Flank	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	3	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTTGGGCTCGGACATCTCC	0.637		NaN											0	0	0	0.008291	0	10	33				
CENPE	1062	broad.mit.edu	37	4	104066984	104066984	+	Splice_Site	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:104066984A>T	uc003hxb.1	-	30	4503	c.4413_splice	c.e30+1	p.K1471_splice	CENPE_uc003hxc.1_Splice_Site_p.K1446_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGAAACCTACTTTAGCTAC	0.308		NaN											0	0	0	0.006122	0	19	51				
PITX2	5308	broad.mit.edu	37	4	111539518	111539518	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:111539518G>A	uc003iad.2	-	5	1299	c.717C>T	c.(715-717)CTC>CTT	p.L239L	PITX2_uc003iac.2_Silent_p.L246L|PITX2_uc003iae.2_Silent_p.L193L|PITX2_uc010iml.2_Silent_p.L110L|PITX2_uc003iaf.2_Silent_p.L239L	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	239					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCAGGCTGTTGAGACTGGAGC	0.582		NaN											0	0	0	0.00333	0	24	65				
PRDM5	11107	broad.mit.edu	37	4	121843681	121843681	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:121843681C>T	uc003idn.2	-	1	333	c.83G>A	c.(82-84)AGA>AAA	p.R28K	PRDM5_uc003ido.2_Missense_Mutation_p.R28K|PRDM5_uc010ine.2_Missense_Mutation_p.R28K|PRDM5_uc010inf.2_Missense_Mutation_p.R28K|PRDM5_uc003idp.1_Missense_Mutation_p.R28K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	28	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTTTCGCACTCTGCGGGCCGT	0.672		NaN											0	0	0	0.003163	0	11	32				
QRFPR	84109	broad.mit.edu	37	4	122250851	122250851	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:122250851T>A	uc010inj.1	-	6	1293	c.914A>T	c.(913-915)TAT>TTT	p.Y305F	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	305	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						GACATCATCATATTCCTTTTC	0.289		NaN											0	0	0	0.00308	0	8	10				
FAT4	79633	broad.mit.edu	37	4	126370445	126370445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:126370445A>C	uc003ifj.3	+	9	8274	c.8274A>C	c.(8272-8274)AAA>AAC	p.K2758N	FAT4_uc011cgp.1_Missense_Mutation_p.K1056N|FAT4_uc003ifi.1_Missense_Mutation_p.K236N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2758	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTTCAGTAAAAGTCATGATTA	0.378		NaN											0	0	0	0.00632	0	29	109				
HSPA4L	22824	broad.mit.edu	37	4	128751844	128751844	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:128751844T>C	uc003ifm.2	+	18	2471	c.2218T>C	c.(2218-2220)TGT>CGT	p.C740R	HSPA4L_uc011cgr.1_Missense_Mutation_p.C707R	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	740					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GGTTGAAAAATGTATCAGTGA	0.343		NaN											0	0	0	0.007413	0	18	32				
ABCE1	6059	broad.mit.edu	37	4	146046206	146046206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:146046206G>A	uc003ijx.2	+	17	2145	c.1705G>A	c.(1705-1707)GAT>AAT	p.D569N	ABCE1_uc003ijy.2_Missense_Mutation_p.D569N|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	569					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					ATTCAGAAGAGATCCAAACAA	0.294		NaN											0	0	0	0.001882	0	16	83				
LRBA	987	broad.mit.edu	37	4	151223937	151223937	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:151223937C>T	uc010ipj.2	-	54	8364	c.7890G>A	c.(7888-7890)TTG>TTA	p.L2630L	LRBA_uc010ipi.2_Silent_p.L152L|LRBA_uc003ils.3_Silent_p.L525L|LRBA_uc003ilt.3_Silent_p.L1278L|LRBA_uc003ilu.3_Silent_p.L2619L|LRBA_uc003ilr.3_Silent_p.L50L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2630	WD 2.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCACTTGGATCAATCTTCCTG	0.363		NaN											0	0	0	0.007413	0	18	70				
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153250906G>T	uc003ims.2	-	8	1303	c.1154C>A	c.(1153-1155)ACA>AAA	p.T385K	FBXW7_uc011cii.1_Missense_Mutation_p.T385K|FBXW7_uc003imt.2_Missense_Mutation_p.T385K|FBXW7_uc011cih.1_Missense_Mutation_p.T209K|FBXW7_uc003imq.2_Missense_Mutation_p.T305K|FBXW7_uc003imr.2_Missense_Mutation_p.T267K	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	385	WD 1.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								1	0	2.37509e-13	0.001523	3.05818e-13	20	92		Valid		
TRIM2	23321	broad.mit.edu	37	4	154243942	154243942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243942G>A	uc003ing.2	+	9	2045	c.1844G>A	c.(1843-1845)CGA>CAA	p.R615Q	TRIM2_uc003inh.2_Missense_Mutation_p.R642Q	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	615	NHL 4.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGTAGCCGAGGAAATGGG	0.473		NaN											0	0	0	0.002299	0	22	47				
TRIM2	23321	broad.mit.edu	37	4	154243969	154243969	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243969G>A	uc003ing.2	+	9	2071	c.1870_splice	c.e9+1	p.G624_splice	TRIM2_uc003inh.2_Splice_Site_p.G651_splice	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2							cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGTTTGCAGGTACACTCGAT	0.473		NaN											0	0	0	0.005443	0	25	35				
RBM46	166863	broad.mit.edu	37	4	155749131	155749131	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:155749131G>A	uc003ioo.2	+	5	1687	c.1514G>A	c.(1513-1515)GGC>GAC	p.G505D	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	505							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTATCCAGGCTATCCTTTG	0.453		NaN											0	0	0	0.00361	0	59	176				
NPY5R	4889	broad.mit.edu	37	4	164272420	164272420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:164272420G>A	uc003iqn.2	+	4	1177	c.995G>A	c.(994-996)GGG>GAG	p.G332E		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	332	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCATACCAGGGGTCCCCACT	0.398		NaN											0	0	0	0.00245	0	12	58				
PALLD	23022	broad.mit.edu	37	4	169819719	169819719	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:169819719G>A	uc011cjx.1	+	14	2537	c.2326G>A	c.(2326-2328)GAA>AAA	p.E776K	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.E759K|PALLD_uc003irv.2_Missense_Mutation_p.E377K|PALLD_uc003irw.2_Missense_Mutation_p.E261K|PALLD_uc003irx.2_5'UTR	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	983					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGTGGATGAATCAGGTGA	0.408		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.000978	0	12	57				
UFSP2	55325	broad.mit.edu	37	4	186324770	186324770	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:186324770C>T	uc003ixo.2	-	11	1318	c.1201G>A	c.(1201-1203)GGA>AGA	p.G401R	UFSP2_uc003ixn.2_Missense_Mutation_p.G276R|UFSP2_uc003ixq.2_Missense_Mutation_p.G291R|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	401						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AAAACTCCTCCCCCTATAGAA	0.338		NaN											0	0	0	0.007413	0	19	63				
FASTKD3	79072	broad.mit.edu	37	5	7867567	7867567	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:7867567T>C	uc003jeb.2	-	2	767	c.630A>G	c.(628-630)AAA>AAG	p.K210K	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	210					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CCATGCCACCTTTTCTGAGAC	0.433		NaN											0	0	0	0.002522	0	45	96				
PDZD2	23037	broad.mit.edu	37	5	32059441	32059441	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:32059441C>A	uc003jhl.2	+	13	2685	c.2297C>A	c.(2296-2298)GCC>GAC	p.A766D	PDZD2_uc003jhm.2_Missense_Mutation_p.A766D|PDZD2_uc011cnx.1_Missense_Mutation_p.A592D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	766	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGATCAGTGGCCAAGATGGAG	0.448		NaN											1	0	6.49762e-13	0.006122	8.3114e-13	17	43				
RAI14	26064	broad.mit.edu	37	5	34821857	34821857	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:34821857A>G	uc003jir.2	+	14	1211	c.1015A>G	c.(1015-1017)ATA>GTA	p.I339V	RAI14_uc010iur.2_Missense_Mutation_p.I310V|RAI14_uc011coj.1_Missense_Mutation_p.I339V|RAI14_uc010ius.1_Missense_Mutation_p.I268V|RAI14_uc003jis.2_Missense_Mutation_p.I342V|RAI14_uc003jit.2_Missense_Mutation_p.I339V|RAI14_uc011cok.1_Missense_Mutation_p.I331V	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	339						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CTTATTGGATATAAGTTCTGA	0.348		NaN											0	0	0	0.00278	0	22	97				
NIPBL	25836	broad.mit.edu	37	5	37059268	37059268	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:37059268G>A	uc003jkl.3	+	44	8184	c.7685_splice	c.e44+1	p.S2562_splice	NIPBL_uc003jkk.3_Splice_Site_p.S2562_splice|NIPBL_uc003jkn.2_Splice_Site_p.S255_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTGATAGGTAAGGTTACA	0.244		NaN											0	0	0	0.00499	0	18	77				
C9	735	broad.mit.edu	37	5	39341658	39341658	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:39341658C>T	uc003jlv.3	-	3	417	c.328G>A	c.(328-330)GGC>AGC	p.G110S		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	110	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAAAGATTACCTGTACTGCAT	0.463		NaN											0	0	0	0.00278	0	20	86				
HEATR7B2	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:41009477C>T	uc003jmj.3	-	32	3815	c.3325G>A	c.(3325-3327)GAA>AAA	p.E1109K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1109							binding			ovary(6)|central_nervous_system(2)	8						GCTGGCTTTTCAGCCAGCGCC	0.498		NaN											0	0	0	0.00361	0	49	121				
PARP8	79668	broad.mit.edu	37	5	50090057	50090057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:50090057G>A	uc003jon.3	+	12	936	c.754G>A	c.(754-756)GTT>ATT	p.V252I	PARP8_uc011cpz.1_Missense_Mutation_p.V144I|PARP8_uc003joo.2_Missense_Mutation_p.V252I|PARP8_uc003jop.2_Missense_Mutation_p.V252I	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	252						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGACATTTGTTACACAGCA	0.343		NaN											0	0	0	0.001855	0	13	48				
CDC20B	166979	broad.mit.edu	37	5	54436170	54436170	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:54436170G>C	uc003jpo.1	-	5	727	c.552C>G	c.(550-552)CTC>CTG	p.L184L	CDC20B_uc003jpn.1_Silent_p.L184L|CDC20B_uc010ivu.1_Silent_p.L184L|CDC20B_uc010ivv.1_Silent_p.L184L|CDC20B_uc003jpp.2_RNA	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	184											0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTGCTCACAGAGCTGCATTT	0.408		NaN											0	0	0	0.008871	0	18	38				
ARSB	411	broad.mit.edu	37	5	78280775	78280775	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:78280775G>A	uc003kfq.2	-	1	1583	c.297C>T	c.(295-297)CTC>CTT	p.L99L	ARSB_uc003kfr.3_Silent_p.L99L	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	99					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AGCGGCCAGTGAGCAGCTGGC	0.512		NaN											0	0	0	0.000602	0	5	10				
ZFYVE16	9765	broad.mit.edu	37	5	79733327	79733327	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:79733327G>T	uc003kgr.3	+	4	1125	c.823G>T	c.(823-825)GTT>TTT	p.V275F	ZFYVE16_uc010jak.1_Missense_Mutation_p.V275F|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V275F|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V275F|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V275F	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	275					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTAAAAGATGTTGGCTTAGT	0.418		NaN											1	0	6.00712e-18	0.002445	7.83844e-18	32	82				
GPR98	84059	broad.mit.edu	37	5	90086879	90086879	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:90086879C>A	uc003kju.2	+	70	14329	c.14233C>A	c.(14233-14235)CTG>ATG	p.L4745M	GPR98_uc003kjt.2_Missense_Mutation_p.L2451M|GPR98_uc003kjw.2_Missense_Mutation_p.L406M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4745	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGAACTGGATCTGGAGAAGAG	0.443		NaN											1	0	3.08376e-08	0.00333	3.83134e-08	25	58				
MCTP1	79772	broad.mit.edu	37	5	94245027	94245027	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:94245027T>C	uc003kkx.2	-	10	1581	c.1581A>G	c.(1579-1581)GAA>GAG	p.E527E	MCTP1_uc003kkv.2_Silent_p.E306E|MCTP1_uc003kkw.2_Silent_p.E260E|MCTP1_uc003kkz.2_Silent_p.E188E|MCTP1_uc003kku.2_Silent_p.E43E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	527	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTCCTCTTTCTTCATAAAGGT	0.368		NaN											0	0	0	0.006122	0	19	70				
CHD1	1105	broad.mit.edu	37	5	98240643	98240643	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:98240643T>G	uc003knf.2	-	2	361	c.213A>C	c.(211-213)GAA>GAC	p.E71D		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAACTTTGTTTTCTCGGGAAG	0.433		NaN											0	0	0	0.00361	0	65	98				
SLC25A46	91137	broad.mit.edu	37	5	110097170	110097170	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:110097170A>T	uc003koz.2	+	8	1012	c.945A>T	c.(943-945)CCA>CCT	p.P315P	SLC25A46_uc011cvi.1_Silent_p.P224P	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	315	Solcar 2.|Helical; Name=5; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CTTATTTTCCAGAACTTATTG	0.413		NaN											0	0	0	0.00361	0	86	215				
EPB41L4A	64097	broad.mit.edu	37	5	111506035	111506035	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:111506035C>T	uc003kpv.1	-	20	1976	c.1702G>A	c.(1702-1704)GAA>AAA	p.E568K	EPB41L4A_uc003kpp.1_Missense_Mutation_p.E195K|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	568						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTGTTCTTCGGACAATCCG	0.363		NaN											0	0	0	0.001855	0	11	37				
YTHDC2	64848	broad.mit.edu	37	5	112903525	112903525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:112903525C>T	uc003kqn.2	+	23	3406	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1075							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAATGCTCTTCAGGAACCTTC	0.318		NaN											0	0	0	0.00361	0	40	79				
ACSL6	23305	broad.mit.edu	37	5	131310491	131310491	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131310491G>T	uc010jdo.1	-	11	1036	c.953C>A	c.(952-954)TCC>TAC	p.S318Y	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.S343Y|ACSL6_uc003kvy.1_Intron|ACSL6_uc003kwb.2_Missense_Mutation_p.S308Y|ACSL6_uc003kvz.1_Intron|ACSL6_uc003kwa.1_Intron|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Intron|ACSL6_uc010jdp.1_Intron	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	318	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCAAATAGGAAATGTGCAC	0.542		NaN											1	0	0.00621372	0.006214	0.00750463	10	23				
SLC22A4	6583	broad.mit.edu	37	5	131630518	131630518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131630518G>A	uc003kwq.2	+	1	374	c.209G>A	c.(208-210)CGG>CAG	p.R70Q	uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	70	Extracellular (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCGCTGCGGCTGCGGGAC	0.726		NaN											0	0	0	0.001368	0	13	21				
GDF9	2661	broad.mit.edu	37	5	132197956	132197956	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132197956A>G	uc003kxz.1	-	2	942	c.690T>C	c.(688-690)AGT>AGC	p.S230S	GDF9_uc011cxj.1_Silent_p.S142S	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	230					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATGTGAATACTTCTCTTGT	0.408		NaN											0	0	0	0.008361	0	31	62				
AFF4	27125	broad.mit.edu	37	5	132223808	132223808	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132223808T>A	uc003kyd.2	-	15	3185	c.2777A>T	c.(2776-2778)AAG>ATG	p.K926M	AFF4_uc011cxk.1_Missense_Mutation_p.K604M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	926					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTGTGCTTTAGCTTTTT	0.274		NaN											0	0	0	0.00245	0	14	36				
C5orf15	56951	broad.mit.edu	37	5	133295523	133295523	+	Missense_Mutation	SNP	G	G	A	rs11540542		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:133295523G>A	uc003kyo.2	-	2	459	c.328C>T	c.(328-330)CCT>TCT	p.P110S		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	110	Extracellular (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGAGACAGAGGAGTAGGCGAG	0.493		NaN											0	0	0	0.006214	0	8	34				
CDC25C	995	broad.mit.edu	37	5	137622194	137622194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:137622194G>A	uc003lcp.1	-	12	1423	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	CDC25C_uc003lcq.1_Silent_p.G311G|CDC25C_uc003lcr.1_Silent_p.G384G|CDC25C_uc011cyp.1_Silent_p.G401G|CDC25C_uc003lcs.1_Silent_p.G462G	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	384	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACATTCGGGGGCCCCTCTCTG	0.478		NaN											0	0	0	0.002222	0	43	97				
PCDHA6	56142	broad.mit.edu	37	5	140209996	140209996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:140209996C>T	uc003lho.2	+	1	2347	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.P774S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	774	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTTAGCCCCAGCCTTTC	0.517		NaN											0	0	0	0.006999	0	34	75				
SLC36A2	153201	broad.mit.edu	37	5	150701700	150701700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150701700C>T	uc003lty.2	-	9	1217	c.1087G>A	c.(1087-1089)GAA>AAA	p.E363K	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.E165K|SLC36A2_uc010jhv.2_Missense_Mutation_p.E363K	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	363	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGATTTCTGCAGGGACG	0.552		NaN											0	0	0	0.00333	0	25	63				
FAT2	2196	broad.mit.edu	37	5	150931089	150931089	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150931089C>T	uc003lue.3	-	6	4248	c.4235G>A	c.(4234-4236)AGA>AAA	p.R1412K	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1412	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCGACCTTCTCCTGGTATC	0.537		NaN											0	0	0	0.002096	0	33	64				
C5orf41	153222	broad.mit.edu	37	5	172518250	172518250	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:172518250A>T	uc003mch.2	+	4	1372	c.1068A>T	c.(1066-1068)GAA>GAT	p.E356D	C5orf41_uc003mcg.2_Missense_Mutation_p.E356D|C5orf41_uc003mcf.2_Missense_Mutation_p.E356D|C5orf41_uc011dfd.1_Missense_Mutation_p.E356D	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	356	Glu-rich.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCtgaagaagatgaggagg	0.194		NaN											0	0	0	0.008291	0	9	24				
C5orf25	375484	broad.mit.edu	37	5	175717546	175717546	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:175717546G>A	uc003mds.3	+	4	1369	c.962G>A	c.(961-963)GGA>GAA	p.G321E	C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G340E|uc003mdu.1_Missense_Mutation_p.G232E			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	321	Pro-rich.										0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CACTTACCGGGAGATGTGTTA	0.547		NaN											0	0	0	0.001855	0	8	183				
OR2J3	442186	broad.mit.edu	37	6	29080151	29080151	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:29080151C>A	uc011dll.1	+	1	484	c.484C>A	c.(484-486)CAT>AAT	p.H162N		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCAGCACTTCATTCCTCCTT	0.488		NaN											1	0	2.40789e-81	0.00361	3.30237e-81	158	143				
RPL10A	4736	broad.mit.edu	37	6	35438423	35438423	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:35438423C>T	uc003okp.1	+	6	584	c.550C>T	c.(550-552)CAC>TAC	p.H184Y	RPL10A_uc003okq.1_Missense_Mutation_p.H100Y|RPL10A_uc003okr.1_Missense_Mutation_p.H100Y|RPL10A_uc003oks.1_Missense_Mutation_p.H100Y	NM_007104	NP_009035	P62906	RL10A_HUMAN	ribosomal protein L10a	184					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			ovary(1)	1						GTATAACATTCACCTGGCTGT	0.493		NaN											0	0	0	0.003214	0	45	50				
DNAH8	1769	broad.mit.edu	37	6	38942237	38942237	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:38942237G>C	uc003ooe.1	+	83	12715	c.12115G>C	c.(12115-12117)GAC>CAC	p.D4039H	DNAH8_uc003oog.1_Missense_Mutation_p.D488H	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGACCTTCTGGACATCAGTAA	0.423		NaN											0	0	0	0.002445	0	32	78				
KIF6	221458	broad.mit.edu	37	6	39507798	39507798	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:39507798A>T	uc003oot.2	-	13	1721	c.1626T>A	c.(1624-1626)AGT>AGA	p.S542R	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S333R|KIF6_uc011dua.1_Missense_Mutation_p.S542R|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	542					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGTGGAGCAAACTGGATCTTT	0.443		NaN											0	0	0	0.00361	0	123	117				
LMBRD1	55788	broad.mit.edu	37	6	70386122	70386122	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:70386122C>T	uc003pfa.2	-	16	1666	c.1551G>A	c.(1549-1551)AAG>AAA	p.K517K	LMBRD1_uc003pey.2_Silent_p.K313K|LMBRD1_uc003pez.2_Silent_p.K444K|LMBRD1_uc010kal.2_Silent_p.K444K|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	517	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TAACCGATTTCTTCCCTTTAC	0.313		NaN											0	0	0	0.001855	0	11	31				
OR2A4	79541	broad.mit.edu	37	6	132021851	132021851	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:132021851C>T	uc011ecd.1	-	1	691	c.691G>A	c.(691-693)GAA>AAA	p.E231K	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_030908	NP_112170	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTCTGAACTTCCCTTGATTGG	0.493		NaN											0	0	0	0.002522	0	35	82				
ECT2L	345930	broad.mit.edu	37	6	139164270	139164270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:139164270C>T	uc003qif.1	+	4	600	c.497C>T	c.(496-498)ACG>ATG	p.T166M	ECT2L_uc011edq.1_Missense_Mutation_p.T97M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						ACTTATGGGACGCTGAATGAA	0.458		NaN											0	0	0	0.006999	0	40	52				
C6orf97	80129	broad.mit.edu	37	6	151857488	151857488	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:151857488G>T	uc003qol.2	+	2	182	c.93G>T	c.(91-93)ACG>ACT	p.T31T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	31	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TCCCGGTCACGCGGGAGCAGT	0.428		NaN											1	0	7.92952e-12	0.003954	1.01098e-11	23	34				
LPA	4018	broad.mit.edu	37	6	160953592	160953592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:160953592G>C	uc003qtl.2	-	39	6052	c.5932C>G	c.(5932-5934)CAT>GAT	p.H1978D		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4486	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCCAAATGCTCAGCACAA	0.458		NaN											0	0	0	0.001523	0	22	43				
TNRC18	84629	broad.mit.edu	37	7	5354756	5354756	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:5354756G>C	uc003soi.3	-	26	7235	c.6886C>G	c.(6886-6888)CTG>GTG	p.L2296V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2296							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGGCACCAGAAGGGCCGGG	0.667		NaN											0	0	0	0.006214	0	8	19				
ARL4A	10124	broad.mit.edu	37	7	12728009	12728009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:12728009G>C	uc003ssp.2	+	2	407	c.130G>C	c.(130-132)GAA>CAA	p.E44Q	ARL4A_uc003ssq.2_Missense_Mutation_p.E44Q|ARL4A_uc003ssr.2_Missense_Mutation_p.E44Q|ARL4A_uc003sss.2_Missense_Mutation_p.E44Q	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	44					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GCAGTTCAATGAATTTGTAAA	0.393		NaN											0	0	0	0.008871	0	16	51				
FERD3L	222894	broad.mit.edu	37	7	19184952	19184952	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:19184952T>C	uc003suo.1	-	1	93	c.34A>G	c.(34-36)ACG>GCG	p.T12A	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCCAGCACCGTAGTGTCCACG	0.672		NaN											0	0	0	0.00245	0	13	33				
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23296615G>A	uc003swc.2	+	4	633	c.472G>A	c.(472-474)GAT>AAT	p.D158N	GPNMB_uc003swa.2_Missense_Mutation_p.D158N|GPNMB_uc003swb.2_Missense_Mutation_p.D158N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	158	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483		NaN											0	0	0	0.002836	0	33	123				
GPNMB	10457	broad.mit.edu	37	7	23313138	23313138	+	Splice_Site	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23313138A>G	uc003swc.2	+	10	1627	c.1466_splice	c.e10-2	p.D489_splice	GPNMB_uc003swb.2_Splice_Site_p.D477_splice|GPNMB_uc011jyy.1_Splice_Site_p.D431_splice|GPNMB_uc011jyz.1_Splice_Site_p.D378_splice	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a						negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TTCTGTTTTAAGACCCAGCCT	0.463		NaN									OREG0017893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.002222	0	41	86				
TRA2A	29896	broad.mit.edu	37	7	23547040	23547040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23547040G>A	uc003swi.2	-	5	854	c.640C>T	c.(640-642)CAT>TAT	p.H214Y	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.H113Y|TRA2A_uc011jzd.1_Missense_Mutation_p.H113Y	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	214	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AACTCTTACTGAGTTGGTCTG	0.378		NaN											0	0	0	0.00361	0	68	169				
HOXA11	3207	broad.mit.edu	37	7	27222475	27222475	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:27222475C>T	uc003syx.2	-	2	954	c.882G>A	c.(880-882)ATG>ATA	p.M294I	HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	294	Homeobox.				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						TTTTTTCCTTCATTCTCCTGT	0.458		NaN	T	NUP98	CML								0	0	0	0.002836	0	32	90				
C7orf41	222166	broad.mit.edu	37	7	30197062	30197062	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:30197062G>A	uc011kab.1	+	3	495	c.294G>A	c.(292-294)GGG>GGA	p.G98G	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.G98G	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	98											0						AGTTACTGGGGCTTCCGGATG	0.552		NaN											0	0	0	0.00361	0	70	216				
ELMO1	9844	broad.mit.edu	37	7	37272761	37272761	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:37272761A>T	uc003tfk.1	-	8	795	c.488T>A	c.(487-489)GTT>GAT	p.V163D	ELMO1_uc011kbc.1_Missense_Mutation_p.V67D|ELMO1_uc010kxg.1_Missense_Mutation_p.V163D	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	163					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CATCAGCTCAACGAAGGCCGT	0.498		NaN											0	0	0	0.00333	0	22	46				
PSMA2	5683	broad.mit.edu	37	7	42964312	42964312	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:42964312C>T	uc003thy.2	-	4	384	c.336G>A	c.(334-336)CAG>CAA	p.Q112Q	C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.Q34Q|PSMA2_uc003thz.1_Silent_p.Q34Q	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						AAGCTACTCTCTGTACCAGCT	0.393		NaN											0	0	0	0.00623	0	39	95				
WBSCR22	114049	broad.mit.edu	37	7	73112020	73112020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:73112020G>A	uc003tyt.2	+	11	845	c.787G>A	c.(787-789)GGC>AGC	p.G263S	WBSCR22_uc003tyu.2_Missense_Mutation_p.G280S|WBSCR22_uc003tyv.2_Missense_Mutation_p.G225S|WBSCR22_uc003tyw.1_Missense_Mutation_p.G126S	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	263						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGGCGCCAGGGCAGGTGAGT	0.607		NaN											0	0	0	0.003163	0	16	39				
CLDN12	9069	broad.mit.edu	37	7	90042400	90042400	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90042400G>A	uc003ukp.2	+	5	1046	c.410G>A	c.(409-411)GGG>GAG	p.G137E	CLDN12_uc003ukq.2_Missense_Mutation_p.G137E|CLDN12_uc010leq.2_Missense_Mutation_p.G137E|CLDN12_uc003ukr.2_Missense_Mutation_p.G137E|CLDN12_uc003uks.2_Missense_Mutation_p.G137E	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	137	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CTGGTGGCTGGGCTGCTATTT	0.498		NaN											0	0	0	0.004878	0	38	129				
FZD1	8321	broad.mit.edu	37	7	90895380	90895380	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90895380G>A	uc003ula.2	+	1	1598	c.1185G>A	c.(1183-1185)CAG>CAA	p.Q395Q		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	395	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGGCGCAGGGCACCAAGA	0.612		NaN											0	0	0	0.002096	0	33	91				
AKAP9	10142	broad.mit.edu	37	7	91694694	91694694	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91694694G>C	uc003ulg.2	+	25	6352	c.6127G>C	c.(6127-6129)GAA>CAA	p.E2043Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E2043Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1666Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2055	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGGAACAAGAAAAAAATAC	0.323		NaN	T	BRAF	papillary thyroid								0	0	0	0.00245	0	14	51				
AKAP9	10142	broad.mit.edu	37	7	91695741	91695741	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91695741G>A	uc003ulg.2	+	26	6436	c.6211G>A	c.(6211-6213)GAG>AAG	p.E2071K	AKAP9_uc003ulf.2_Missense_Mutation_p.E2071K|AKAP9_uc003uli.2_Missense_Mutation_p.E1694K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2083	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAACTTTAGGAGCAAGCCAT	0.348		NaN	T	BRAF	papillary thyroid								0	0	0	0.006122	0	19	61				
ANKIB1	54467	broad.mit.edu	37	7	91981884	91981884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91981884G>T	uc003ulw.2	+	9	1701	c.1325G>T	c.(1324-1326)GGA>GTA	p.G442V		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	442	IBR-type; degenerate.						protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACATCTGGATCTGATACA	0.443		NaN											1	0	3.1376e-36	0.00361	4.24339e-36	88	229				
ANKIB1	54467	broad.mit.edu	37	7	92027739	92027739	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92027739T>G	uc003ulw.2	+	20	3122	c.2746T>G	c.(2746-2748)TTG>GTG	p.L916V	ANKIB1_uc010lew.1_Missense_Mutation_p.L185V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	916							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCTGAGCTTTTGGAACTTGG	0.507		NaN											0	0	0	0.003163	0	16	23				
PEX1	5189	broad.mit.edu	37	7	92143223	92143223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92143223G>A	uc003uly.2	-	6	1394	c.1298C>T	c.(1297-1299)ACT>ATT	p.T433I	PEX1_uc011khr.1_Missense_Mutation_p.T225I|PEX1_uc010ley.2_Missense_Mutation_p.T433I|PEX1_uc011khs.1_Missense_Mutation_p.T111I|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	433					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCACTGGAGTTATCCTGAC	0.299		NaN											0	0	0	0.00361	0	52	122				
MUC17	140453	broad.mit.edu	37	7	100678716	100678716	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:100678716C>G	uc003uxp.1	+	3	4072	c.4019C>G	c.(4018-4020)ACA>AGA	p.T1340R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1340	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTTTAACAAGTATACCT	0.463		NaN											0	0	0	0.00361	0	115	307				
RINT1	60561	broad.mit.edu	37	7	105189056	105189056	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:105189056T>A	uc003vda.1	+	7	1126	c.895T>A	c.(895-897)TCC>ACC	p.S299T	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	299	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						TCTTCCTGCCTCCCCTTCTGT	0.433		NaN											0	0	0	0.00361	0	68	154				
PIK3CG	5294	broad.mit.edu	37	7	106508023	106508023	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:106508023A>G	uc003vdv.3	+	2	102	c.17A>G	c.(16-18)TAT>TGT	p.Y6C	PIK3CG_uc003vdu.2_Missense_Mutation_p.Y6C|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y6C	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	6					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CTGGAGAACTATAAACAGCCC	0.582		NaN											0	0	0	0.004656	0	24	72				
LRRN3	54674	broad.mit.edu	37	7	110763553	110763553	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:110763553C>G	uc003vft.3	+	4	1771	c.725C>G	c.(724-726)TCT>TGT	p.S242C	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S242C|LRRN3_uc003vfs.3_Missense_Mutation_p.S242C	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	242	Extracellular (Potential).|LRR 8.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAAAGCATCTCTTTTTACGAT	0.343		NaN											0	0	0	0.007291	0	26	61				
ING3	54556	broad.mit.edu	37	7	120610799	120610799	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:120610799A>T	uc003vjn.2	+	10	1100	c.966A>T	c.(964-966)TTA>TTT	p.L322F	ING3_uc003vjo.2_Missense_Mutation_p.L96F|ING3_uc003vjp.2_Missense_Mutation_p.L322F|ING3_uc011kns.1_Missense_Mutation_p.L307F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	322	Poly-Ser.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					CTTCTTCCTTATCATCGTGTT	0.378		NaN											0	0	0	0.007413	0	17	45				
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:138312175G>A	uc011kqh.1	-	11	1101	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	SVOPL_uc003vue.2_Silent_p.F215F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	367	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GTCTTCCCAGGAAATTGATGC	0.403		NaN											0	0	0	0.001984	0	6	23				
WEE2	494551	broad.mit.edu	37	7	141427156	141427156	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:141427156G>A	uc003vwn.2	+	10	1851	c.1445G>A	c.(1444-1446)AGA>AAA	p.R482K	FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	482	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GCTCTGGCCAGAAATACAGTT	0.458		NaN											0	0	0	0.00361	0	57	174				
OR2A12	346525	broad.mit.edu	37	7	143793100	143793100	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:143793100A>G	uc011kty.1	+	1	900	c.900A>G	c.(898-900)CTA>CTG	p.L300L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453		NaN											0	0	0	0.00361	0	83	268				
MLL3	58508	broad.mit.edu	37	7	151864230	151864230	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:151864230C>T	uc003wla.2	-	42	9969	c.9750_splice	c.e42+1	p.Q3250_splice	MLL3_uc003wkz.2_Splice_Site_p.Q2311_splice|MLL3_uc003wky.2_Splice_Site_p.Q759_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTATTTATTACCTGTTCTAGC	0.368		NaN	N		medulloblastoma								0	0	0	0.00499	0	18	57		Valid		
PAXIP1	22976	broad.mit.edu	37	7	154739621	154739621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:154739621G>T	uc003wlp.2	-	17	2957	c.2914C>A	c.(2914-2916)CTC>ATC	p.L972I	LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Missense_Mutation_p.L938I|PAXIP1_uc011kvs.1_Missense_Mutation_p.L936I	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	972	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACCTTAAAGAGTGGAGAAACG	0.448		NaN											1	0	5.10508e-28	0.00361	6.88038e-28	61	194				
NOM1	64434	broad.mit.edu	37	7	156745289	156745289	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:156745289A>G	uc003wmy.2	+	2	1124	c.1109A>G	c.(1108-1110)AAC>AGC	p.N370S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	370	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCTACTTAACAGGTGACCT	0.413		NaN											0	0	0	0.000978	0	12	34				
DLC1	10395	broad.mit.edu	37	8	13357474	13357474	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:13357474A>G	uc003wwm.2	-	2	551	c.107T>C	c.(106-108)GTA>GCA	p.V36A	DLC1_uc003wwn.2_Missense_Mutation_p.V36A|DLC1_uc011kxy.1_Missense_Mutation_p.V36A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	36					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCTGTCAGCTACTAGTCCATG	0.453		NaN											0	0	0	0.00361	0	97	164				
PSD3	23362	broad.mit.edu	37	8	18662314	18662314	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:18662314C>A	uc003wza.2	-	5	1832	c.1729G>T	c.(1729-1731)GGT>TGT	p.G577C	PSD3_uc003wyy.2_Missense_Mutation_p.G43C|PSD3_uc003wyz.2_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	577	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCTGGTACCATTACTGAGA	0.448		NaN											1	0	1.77355e-41	0.00361	2.40697e-41	75	284				
SH2D4A	63898	broad.mit.edu	37	8	19190582	19190582	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:19190582G>A	uc003wzb.2	+	3	634	c.298G>A	c.(298-300)GAG>AAG	p.E100K	SH2D4A_uc011kym.1_Missense_Mutation_p.E55K|SH2D4A_uc003wzc.2_Missense_Mutation_p.E100K	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	100						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AATTATTGCTGAGAGGGCCCG	0.458		NaN											0	0	0	0.001786	0	31	103				
PDLIM2	64236	broad.mit.edu	37	8	22442884	22442884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:22442884C>G	uc003xby.2	+	6	912	c.512C>G	c.(511-513)TCC>TGC	p.S171C	PDLIM2_uc003xbx.1_Missense_Mutation_p.S171C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S171C|PDLIM2_uc003xca.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S171C	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	171						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GACCGCCTGTCCTACTCAGGC	0.672		NaN											0	0	0	0.001168	0	5	30				
TNFRSF10A	8797	broad.mit.edu	37	8	23056919	23056919	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23056919C>T	uc003xda.2	-	8	939	c.874G>A	c.(874-876)GAG>AAG	p.E292K		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	292	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCATTGTCCTCAGCCCCAGGC	0.587		NaN											0	0	0	0.007835	0	39	58				
CHMP7	91782	broad.mit.edu	37	8	23112797	23112797	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23112797C>T	uc003xdc.2	+	4	1157	c.509C>T	c.(508-510)TCG>TTG	p.S170L	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.S60L|CHMP7_uc003xde.2_Missense_Mutation_p.S28L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	170					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TATCAGAACTCGCCCCTCTCC	0.592		NaN											0	0	0	0.004007	0	16	53				
NEFM	4741	broad.mit.edu	37	8	24775841	24775841	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:24775841G>A	uc003xed.3	+	3	2506	c.2473G>A	c.(2473-2475)GAG>AAG	p.E825K	NEFM_uc011lac.1_Missense_Mutation_p.E607K|NEFM_uc010lue.2_Missense_Mutation_p.E449K	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	825	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tgggagggaagaggagaaagG	0.229		NaN											0	0	0	0.002299	0	22	21				
EPHX2	2053	broad.mit.edu	37	8	27361273	27361273	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:27361273G>T	uc003xfu.2	+	3	420	c.339G>T	c.(337-339)AGG>AGT	p.R113S	EPHX2_uc010lut.1_Missense_Mutation_p.R113S|EPHX2_uc010luu.2_Missense_Mutation_p.R113S|EPHX2_uc010luv.2_Missense_Mutation_p.R47S|EPHX2_uc003xfv.2_Missense_Mutation_p.R60S|EPHX2_uc010luw.2_Missense_Mutation_p.R47S|EPHX2_uc011lam.1_5'Flank	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	113	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TCATGCTCAGGAAGAAAGGTA	0.493		NaN											1	0	2.64397e-27	0.005443	3.55726e-27	23	97				
C8orf41	80185	broad.mit.edu	37	8	33370001	33370001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:33370001C>T	uc003xjl.3	-	1	656	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	C8orf41_uc003xjk.3_Missense_Mutation_p.R44Q|C8orf41_uc010lvv.2_Missense_Mutation_p.R44Q|C8orf41_uc003xjm.3_Missense_Mutation_p.R44Q|C8orf41_uc003xjn.1_Missense_Mutation_p.R44Q	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	44							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		TACATTGCCTCGTCGTGCCTC	0.507		NaN											0	0	0	0.004289	0	32	151				
ADAM2	2515	broad.mit.edu	37	8	39645638	39645638	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:39645638C>A	uc003xnj.2	-	9	850	c.775G>T	c.(775-777)GTT>TTT	p.V259F	ADAM2_uc003xnk.2_Missense_Mutation_p.V240F|ADAM2_uc011lck.1_Missense_Mutation_p.V259F|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	259	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGACGTAAAACAAGATAAGAT	0.308		NaN											1	0	1.96292e-10	0.001523	2.48637e-10	22	95				
RB1CC1	9821	broad.mit.edu	37	8	53568671	53568671	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:53568671C>T	uc003xre.3	-	15	4276	c.3718G>A	c.(3718-3720)GAA>AAA	p.E1240K	RB1CC1_uc003xrf.3_Missense_Mutation_p.E1240K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1240	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGAATAGCTTCATCTTTTTCA	0.343		NaN											0	0	0	0.00361	0	80	104				
PENK	5179	broad.mit.edu	37	8	57353869	57353869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:57353869C>T	uc003xsz.2	-	2	847	c.766G>A	c.(766-768)GAA>AAA	p.E256K	PENK_uc003xta.3_Missense_Mutation_p.E256K	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	256					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCCATTTCAGGAACTTCT	0.502		NaN											0	0	0	0.00361	0	105	175				
TOX	9760	broad.mit.edu	37	8	59728257	59728257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:59728257C>G	uc003xtw.1	-	7	1253	c.1032G>C	c.(1030-1032)AAG>AAC	p.K344N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	344						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTTGAGATGTCTTCACGTCAA	0.507		NaN											0	0	0	0.00632	0	27	74				
ZFHX4	79776	broad.mit.edu	37	8	77618118	77618118	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:77618118G>T	uc003yav.2	+	2	2182	c.1795G>T	c.(1795-1797)GGC>TGC	p.G599C	ZFHX4_uc003yat.1_Missense_Mutation_p.G599C|ZFHX4_uc003yau.1_Missense_Mutation_p.G599C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G599C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTACTCCTGGCACACCAGG	0.572		NaN								HNSCC(33;0.089)			1	0	1.4374e-25	0.00361	1.92064e-25	49	66				
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:82670747G>A	uc003ycl.2	+	5	844	c.670G>A	c.(670-672)GAT>AAT	p.D224N		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						AGAGGATGATGATATCAAACA	0.318		NaN											0	0	0	0.001882	0	20	98				
NBN	4683	broad.mit.edu	37	8	90995014	90995014	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:90995014T>G	uc003yej.1	-	2	217	c.107A>C	c.(106-108)GAA>GCA	p.E36A	NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.E36A	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	36	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGATCATTTTCAATCAGAAT	0.343		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.003755	0	35	116				
RGS22	26166	broad.mit.edu	37	8	101076156	101076156	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:101076156T>C	uc003yjb.1	-	8	1035	c.840A>G	c.(838-840)GTA>GTG	p.V280V	RGS22_uc003yja.1_Silent_p.V99V|RGS22_uc003yjc.1_Silent_p.V268V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	280					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGTAGAGATACAGACACCt	0.338		NaN											0	0	0	0.001855	0	14	248				
PKHD1L1	93035	broad.mit.edu	37	8	110460573	110460573	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:110460573T>C	uc003yne.2	+	39	6082	c.5978T>C	c.(5977-5979)GTT>GCT	p.V1993A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1993	Extracellular (Potential).|IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTCCACAGTTGTATTTGAG	0.408		NaN								HNSCC(38;0.096)			0	0	0	0.001984	0	7	46				
NDUFB9	4715	broad.mit.edu	37	8	125555358	125555358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:125555358G>A	uc003yrg.3	+	2	217	c.132G>A	c.(130-132)ATG>ATA	p.M44I	NDUFB9_uc011lim.1_Missense_Mutation_p.M44I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	44					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CTTGTTTGATGAGAGCCCGGT	0.448		NaN											0	0	0	0.003163	0	14	80				
DENND3	22898	broad.mit.edu	37	8	142148141	142148141	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:142148141G>A	uc003yvy.2	+	3	444	c.166G>A	c.(166-168)GAA>AAA	p.E56K	DENND3_uc003yvw.1_Missense_Mutation_p.E69K|DENND3_uc003yvx.2_Missense_Mutation_p.E136K|DENND3_uc010mep.2_Missense_Mutation_p.E69K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	56	UDENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCCACTGAACCTAAGGA	0.572		NaN											0	0	0	0.001168	0	5	19				
RHPN1	114822	broad.mit.edu	37	8	144462009	144462009	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144462009A>G	uc003yyb.2	+	9	1089	c.956A>G	c.(955-957)GAG>GGG	p.E319G		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	319	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGGCAGCCGAGTACAGGCTA	0.667		NaN											0	0	0	0.004482	0	8	27				
EEF1D	1936	broad.mit.edu	37	8	144668447	144668447	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144668447C>T	uc011lki.1	-	3	400	c.131G>A	c.(130-132)AGC>AAC	p.S44N	EEF1D_uc003yyp.1_Intron|EEF1D_uc003yyq.1_Missense_Mutation_p.S460N|EEF1D_uc011lkj.1_Missense_Mutation_p.S409N|EEF1D_uc003yyr.2_Missense_Mutation_p.S410N|EEF1D_uc003yyt.2_Missense_Mutation_p.S410N|EEF1D_uc011lkk.1_Missense_Mutation_p.S44N|EEF1D_uc003yys.2_Missense_Mutation_p.S44N|EEF1D_uc003yyv.2_Intron|EEF1D_uc003yyu.2_Missense_Mutation_p.S44N|EEF1D_uc011lkl.1_Missense_Mutation_p.S44N	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	44				S -> T (in Ref. 1; CAA79716).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGATCACGCTGGCGCCGTT	0.493		NaN											0	0	0	0.00245	0	13	18				
TIGD5	84948	broad.mit.edu	37	8	144680461	144680461	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144680461G>A	uc003yyx.1	+	1	241	c.241G>A	c.(241-243)GCC>ACC	p.A81T	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	130					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGCCGTGTACGCCTGGTTCCT	0.701		NaN											0	0	0	0.00499	0	14	19				
NFKBIL2	4796	broad.mit.edu	37	8	145660258	145660258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145660258C>T	uc011llg.1	-	20	3036	c.3021G>A	c.(3019-3021)GTG>GTA	p.V1007V	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1007					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCACGAAGTCACCTCAGCCA	0.667		NaN											0	0	0	0.001368	0	12	60				
KIFC2	90990	broad.mit.edu	37	8	145697774	145697774	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145697774C>T	uc003zcz.2	+	15	1703	c.1638C>T	c.(1636-1638)CGC>CGT	p.R546R	KIFC2_uc003zda.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	546	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCCCGAGCGCCTGGCCGTGA	0.662		NaN											0	0	0	0.00499	0	18	42				
RECQL4	9401	broad.mit.edu	37	8	145738372	145738372	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145738372C>T	uc003zdj.2	-	16	2645	c.2613G>A	c.(2611-2613)GAG>GAA	p.E871E		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	871					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACAGGCCTCTCCCCACCCA	0.667		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	0.000602	0	5	7				
KIAA2026	158358	broad.mit.edu	37	9	6007547	6007547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:6007547G>A	uc003zjq.3	-	1	457	c.241C>T	c.(241-243)CAG>TAG	p.Q81*		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	81										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGGTAGCCCTGCTGTAGCTCG	0.662		NaN											0	0	0	0.002222	0	41	28				
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:21971209T>A	uc003zpk.2	-	2	363	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(19)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.00245	0	12	12		Valid		
DCAF12	25853	broad.mit.edu	37	9	34125208	34125208	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:34125208T>A	uc003ztt.2	-	2	488	c.146A>T	c.(145-147)TAC>TTC	p.Y49F		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	49						centrosome|CUL4 RING ubiquitin ligase complex					0						GTTCTTCAAGTAGTATACTAA	0.463		NaN											0	0	0	0.00361	0	49	47				
GNE	10020	broad.mit.edu	37	9	36276896	36276896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:36276896G>A	uc010mli.2	-	1	146	c.46C>T	c.(46-48)CCT>TCT	p.P16S	CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.D48D	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	Error:Variant_position_missing_in_Q9Y223_after_alignment					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CTTACATGAGGTCCTTGAAAG	0.408		NaN											0	0	0	0.00361	0	78	78				
SHB	6461	broad.mit.edu	37	9	38016031	38016031	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:38016031T>C	uc004aax.2	-	2	1383	c.815A>G	c.(814-816)TAT>TGT	p.Y272C		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	272	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTGTGCCTCATAGGGCTCCAT	0.557		NaN											0	0	0	0.00361	0	164	143				
C9orf3	84909	broad.mit.edu	37	9	97522147	97522147	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:97522147C>A	uc004ava.2	+	1	217	c.82C>A	c.(82-84)CTG>ATG	p.L28M	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L28M|C9orf3_uc004auy.2_Missense_Mutation_p.L28M|C9orf3_uc004auz.1_Missense_Mutation_p.L28M	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	28					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCACTATGTACTGGATTTGGA	0.443		NaN											1	0	6.32553e-13	0.004656	8.10459e-13	28	62				
EPB41L4B	54566	broad.mit.edu	37	9	112018495	112018495	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:112018495C>T	uc004bdz.1	-	9	1145	c.850G>A	c.(850-852)GGC>AGC	p.G284S	EPB41L4B_uc004bea.2_Missense_Mutation_p.G284S	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	284	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TATTCACAGCCATCTCTTCCC	0.393		NaN											0	0	0	0.00361	0	79	51				
CEP110	11064	broad.mit.edu	37	9	123852674	123852674	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:123852674G>A	uc004bkx.1	+	2	370	c.339G>A	c.(337-339)AAG>AAA	p.K113K	CEP110_uc004bkw.2_Silent_p.K113K	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	113					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						ACGGTGGCAAGAAATTTAAGG	0.313		NaN											0	0	0	0.00361	0	53	45				
C9orf96	169436	broad.mit.edu	37	9	136269137	136269137	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:136269137C>T	uc004cdk.2	+	16	1758	c.1697C>T	c.(1696-1698)GCC>GTC	p.A566V	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	566							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAACAATGCCTACCGGGGA	0.612		NaN									OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	46	38				
ACOT9	23597	broad.mit.edu	37	X	23748661	23748661	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:23748661T>A	uc004dap.2	-	5	502	c.356A>T	c.(355-357)GAT>GTT	p.D119V	ACOT9_uc004dao.2_Missense_Mutation_p.D128V|ACOT9_uc004daq.2_Missense_Mutation_p.D77V|ACOT9_uc004dar.2_Missense_Mutation_p.D59V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.D59V|ACOT9_uc004dat.1_Missense_Mutation_p.D119V	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	119					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GCTGTCAAGATCCTCAAGAAT	0.328		NaN											0	0	0	0.00361	0	55	42				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.004007	0	15	20		Valid		
ATRX	546	broad.mit.edu	37	X	76919036	76919036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:76919036G>C	uc004ecp.3	-	12	4187	c.3955C>G	c.(3955-3957)CAA>GAA	p.Q1319E	ATRX_uc004ecq.3_Missense_Mutation_p.Q1281E|ATRX_uc004eco.3_Missense_Mutation_p.Q1104E|ATRX_uc004ecr.2_Missense_Mutation_p.Q1251E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GAATTGACTTGATTTTTTGCT	0.358		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.00245	0	14	11				
MID2	11043	broad.mit.edu	37	X	107169341	107169341	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:107169341G>A	uc004enl.2	+	9	2188	c.1615G>A	c.(1615-1617)GAT>AAT	p.D539N	MID2_uc004enk.2_Missense_Mutation_p.D509N	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	539	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						CTTTAAATTGGATCCCAAAAT	0.378		NaN											0	0	0	0.004289	0	37	34				
ZCCHC12	170261	broad.mit.edu	37	X	117959285	117959285	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:117959285G>A	uc004equ.2	+	4	551	c.78G>A	c.(76-78)CTG>CTA	p.L26L		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ATTCCATGCTGAGGTCCCTGG	0.433		NaN											0	0	0	0.002222	0	45	28				
PHF6	84295	broad.mit.edu	37	X	133511786	133511786	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:133511786G>A	uc004exj.2	+	2	340	c.138_splice	c.e2+1	p.M46_splice	PHF6_uc004exk.2_Splice_Site_p.M46_splice|PHF6_uc011mvk.1_Splice_Site_p.M46_splice|PHF6_uc004exh.2_Splice_Site_p.M46_splice|PHF6_uc010nrr.2_Splice_Site_p.M46_splice|PHF6_uc004exi.2_Splice_Site_p.M46_splice	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TAAGTGCATGGTAAGTATACC	0.378		NaN											0	0	0	0.004878	0	36	30				
ZNF185	7739	broad.mit.edu	37	X	152128422	152128422	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:152128422G>T	uc010ntv.1	+	17	1623	c.1586G>T	c.(1585-1587)CGA>CTA	p.R529L	ZNF185_uc011myg.1_Missense_Mutation_p.R561L|ZNF185_uc011myh.1_Missense_Mutation_p.R532L|ZNF185_uc011myi.1_Missense_Mutation_p.R500L|ZNF185_uc011myj.1_Missense_Mutation_p.R470L|ZNF185_uc011myk.1_Missense_Mutation_p.R530L|ZNF185_uc004fgw.3_Missense_Mutation_p.R308L|ZNF185_uc004fgu.2_Missense_Mutation_p.R158L|ZNF185_uc004fgv.2_Missense_Mutation_p.R226L|ZNF185_uc004fgx.2_Missense_Mutation_p.R167L	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	529						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCAGACGAGAGAGCTGC	0.582		NaN											1	0	1.6384e-10	0.001984	2.08208e-10	5	9				
HTR1D	3352	broad.mit.edu	37	1	23519904	23519904	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:23519904G>A	uc001bgn.2	-	1	1319	c.809C>T	c.(808-810)TCC>TTC	p.S270F		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	270	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGAGAGGGGAGCCAGCCGA	0.572		NaN											0	0	0	0.021022	0	34	46				
CYP4A22	284541	broad.mit.edu	37	1	47603170	47603170	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:47603170G>T	uc001cqv.1	+	1	64	c.13G>T	c.(13-15)GTC>TTC	p.V5F	CYP4A22_uc009vyo.2_Missense_Mutation_p.V5F|CYP4A22_uc009vyp.2_Missense_Mutation_p.V5F	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	5						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						GAGTGTCTCTGTCCTGAGCCC	0.587		NaN											1	0	3.10996e-30	0.01441	4.51249e-30	43	75				
ELAVL4	1996	broad.mit.edu	37	1	50610812	50610812	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:50610812C>T	uc001csb.2	+	2	461	c.193C>T	c.(193-195)CTC>TTC	p.L65F	ELAVL4_uc001cry.3_Missense_Mutation_p.L68F|ELAVL4_uc001crz.3_Missense_Mutation_p.L65F|ELAVL4_uc001csa.3_Missense_Mutation_p.L82F|ELAVL4_uc001csc.3_Missense_Mutation_p.L65F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L70F|ELAVL4_uc010omz.1_Missense_Mutation_p.L70F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	65	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						ATTCAGGAGTCTCTTCGGGAG	0.433		NaN											0	0	0	0.003163	0	13	78				
COL11A1	1301	broad.mit.edu	37	1	103461428	103461428	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:103461428C>A	uc001dul.2	-	28	2650	c.2332G>T	c.(2332-2334)GGT>TGT	p.G778C	COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.G790C|COL11A1_uc001dun.2_Missense_Mutation_p.G739C|COL11A1_uc009weh.2_Missense_Mutation_p.G662C	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	778	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTTCACCTTTAGATCCC	0.269		NaN											1	0	8.52622e-23	0.01441	1.15769e-22	52	40				
KCNC4	3749	broad.mit.edu	37	1	110754241	110754241	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:110754241C>T	uc001dzh.2	+	1	177	c.120C>T	c.(118-120)ATC>ATT	p.I40I	KCNC4_uc001dzf.2_Silent_p.I40I|KCNC4_uc009wfr.2_Silent_p.I40I|KCNC4_uc001dzg.2_Silent_p.I40I|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	40	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGATCATCATCAACGTGGGCG	0.677		NaN											0	0	0	0.004656	0	20	35				
SPAG17	200162	broad.mit.edu	37	1	118537064	118537064	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:118537064G>T	uc001ehk.2	-	35	5211	c.5143C>A	c.(5143-5145)CGG>AGG	p.R1715R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACCTTGACCGGAGATTAGGA	0.428		NaN											1	0	6.70999e-13	0.019004	7.88157e-13	27	49				
OR6Y1	391112	broad.mit.edu	37	1	158517011	158517011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:158517011G>T	uc010pil.1	-	1	885	c.885C>A	c.(883-885)TAC>TAA	p.Y295*		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	295	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCTCAGACAGTAAATGATGG	0.458		NaN											1	0	1.81118e-26	0.01441	2.57745e-26	40	67				
KIFAP3	22920	broad.mit.edu	37	1	169951164	169951164	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:169951164C>A	uc001ggv.2	-	15	2018	c.1747G>T	c.(1747-1749)GCA>TCA	p.A583S	KIFAP3_uc010plx.1_Missense_Mutation_p.A285S	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	583	ARM 4.				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTAGCAATGCAGCACAAGAG	0.348		NaN											1	0	2.4375e-19	0.007291	3.13695e-19	23	31				
LGR6	59352	broad.mit.edu	37	1	202205106	202205106	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:202205106C>G	uc001gxu.2	+	4	413	c.413C>G	c.(412-414)CCG>CGG	p.P138R	LGR6_uc001gxv.2_Missense_Mutation_p.P86R|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.P95R|LGR6_uc009xac.1_5'Flank	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	138	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGGAGCTGCCGAGCCTGCAG	0.607		NaN											0	0	0	0.004672	0	3	56				
CHRM3	1131	broad.mit.edu	37	1	240071577	240071577	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr1:240071577G>A	uc001hyp.2	+	5	1605	c.826G>A	c.(826-828)GAG>AAG	p.E276K		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	276	Basolateral sorting signal.|Cytoplasmic (By similarity).			E->D: Loss of basolateral sorting. No effect on basolateral sorting; when associated with L-280 and L-281.|E->A: Loss of basolateral sorting.	cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GACAGAGGCAGAGACAGAAAA	0.488		NaN											0	0	0	0.008871	0	17	26				
ANKRD30A	91074	broad.mit.edu	37	10	37430754	37430754	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:37430754T>C	uc001iza.1	+	7	860	c.761T>C	c.(760-762)GTG>GCG	p.V254A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	310						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GCACCCTTGGTGGAAAGAACA	0.502		NaN											0	0	0	0.004672	0	3	50				
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:37430773G>A	uc001iza.1	+	7	879	c.780G>A	c.(778-780)ACG>ACA	p.T260T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CACCTGACACGGCTGAAAGCT	0.493		NaN											0	0	0	0.009096	0	4	50				
GPRIN2	9721	broad.mit.edu	37	10	46999113	46999113	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:46999113C>T	uc001jec.2	+	3	368	c.233C>T	c.(232-234)TCT>TTT	p.S78F	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	78											0						GCACGGGCCTCTGGCCCCAAG	0.701		NaN											0	0	0	0.008291	0	7	48				
MYST4	23522	broad.mit.edu	37	10	76603021	76603021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:76603021C>G	uc001jwn.1	+	3	899	c.406C>G	c.(406-408)CAA>GAA	p.Q136E	MYST4_uc001jwm.1_Missense_Mutation_p.Q136E|MYST4_uc001jwo.1_Missense_Mutation_p.Q136E|MYST4_uc001jwp.1_Missense_Mutation_p.Q136E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	136	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TCTCAGAAGTCAAAGTGATCT	0.498		NaN	T	CREBBP	AML								0	0	0	0.00632	0	29	22				
BTAF1	9044	broad.mit.edu	37	10	93751881	93751881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:93751881A>G	uc001khr.2	+	21	2958	c.2860A>G	c.(2860-2862)ACC>GCC	p.T954A	BTAF1_uc001kht.1_Missense_Mutation_p.T392A	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	954					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				ATTAGGATCCACCTCAGAAAA	0.358		NaN											0	0	0	0.020292	0	14	27				
PNLIPRP3	119548	broad.mit.edu	37	10	118228730	118228730	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr10:118228730C>A	uc001lcl.3	+	9	1062	c.961C>A	c.(961-963)CCA>ACA	p.P321T		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	321					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		AGAAGGTTGCCCAACAATGGG	0.358		NaN											1	0	1.22574e-08	0.014323	1.37431e-08	18	19				
NLRP6	171389	broad.mit.edu	37	11	281667	281667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:281667G>A	uc010qvs.1	+	4	1933	c.1933G>A	c.(1933-1935)GCG>ACG	p.A645T	NLRP6_uc010qvt.1_Missense_Mutation_p.A645T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	645						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCGGAGCTGGCGCTGCAGCG	0.647		NaN											0	0	0	0.01441	0	83	93				
NUP98	4928	broad.mit.edu	37	11	3744407	3744407	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:3744407G>C	uc001lyh.2	-	16	2417	c.2126C>G	c.(2125-2127)TCT>TGT	p.S709C	NUP98_uc001lyi.2_Missense_Mutation_p.S709C|NUP98_uc001lyj.1_Missense_Mutation_p.S709C|NUP98_uc001lyk.1_Missense_Mutation_p.S726C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	726					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CATATGGTAAGAATTATTTTC	0.423		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.021022	0	32	50				
SBF2	81846	broad.mit.edu	37	11	9812207	9812207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:9812207C>G	uc001mib.2	-	34	4732	c.4594G>C	c.(4594-4596)GAA>CAA	p.E1532Q	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E176Q|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1532	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCATGCTTTTCTCCTTTATCA	0.308		NaN											0	0	0	0.010771	0	33	54				
OR4A5	81318	broad.mit.edu	37	11	51411647	51411647	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:51411647G>T	uc001nhi.1	-	1	749	c.749C>A	c.(748-750)CCC>CAC	p.P250H		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GAAAATACAGGGTACAAAAAA	0.398		NaN											1	0	8.04996e-18	0.012319	1.02706e-17	19	31				
OR4C15	81309	broad.mit.edu	37	11	55322491	55322491	+	Silent	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:55322491T>C	uc010rig.1	+	1	709	c.709T>C	c.(709-711)TTA>CTA	p.L237L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGTACCCGTTACTGGAGCT	0.448		NaN								HNSCC(20;0.049)			0	0	0	0.020292	0	14	11				
OR10Q1	219960	broad.mit.edu	37	11	57996150	57996150	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:57996150G>A	uc010rkd.1	-	1	198	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGTTGGACAGGAAGAAATACA	0.532		NaN											0	0	0	0.007835	0	33	67				
MS4A1	931	broad.mit.edu	37	11	60229778	60229778	+	Translation_Start_Site	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr11:60229778C>A	uc001npp.2	+	3	347	c.-69C>A	c.(-71--67)GACTG>GAATG		MS4A1_uc009ymy.1_Intron|MS4A1_uc001npq.2_Intron|MS4A1_uc009yna.2_Translation_Start_Site|MS4A1_uc009ymz.2_Intron|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member						B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAAGGTAAGACTGCCAAAAAT	0.408		NaN											1	0	0.004672	0.004672	0.00483536	3	11				
A2M	2	broad.mit.edu	37	12	9262584	9262584	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:9262584C>A	uc001qvk.1	-	6	665	c.552G>T	c.(550-552)GAG>GAT	p.E184D	A2M_uc009zgk.1_Missense_Mutation_p.E34D	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	184					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TGAGGCCACCCTCTAACTGGA	0.463		NaN											1	0	1.57945e-13	0.011902	1.90048e-13	37	54				
TROAP	10024	broad.mit.edu	37	12	49724403	49724403	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49724403A>G	uc001rtx.3	+	13	1942	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	TROAP_uc009zlh.2_Missense_Mutation_p.Y592C|TROAP_uc001rty.2_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	592	Cys-rich.|4 X 33 AA approximate tandem repeats.|3.				cell adhesion	cytoplasm				ovary(1)	1						CTAGAGTCCTACTGTAGGATT	0.617		NaN											0	0	0	0.001168	0	5	81				
LHX5	64211	broad.mit.edu	37	12	113906970	113906970	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:113906970G>T	uc001tvj.1	-	2	928	c.354C>A	c.(352-354)GAC>GAA	p.D118E		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	118	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCTCAGGTAGTCGTCTTTGC	0.572		NaN											1	0	3.86212e-05	0.008291	4.14198e-05	11	13				
C1QTNF9	338872	broad.mit.edu	37	13	24895231	24895231	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:24895231G>T	uc001upj.2	+	4	388	c.327G>T	c.(325-327)ATG>ATT	p.M109I	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	109	Collagen-like 2.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGGGCCCATGGGAGAGAAGG	0.582		NaN											1	0	3.51602e-12	0.008871	4.0974e-12	20	19				
PCDH20	64881	broad.mit.edu	37	13	61986716	61986716	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr13:61986716C>A	uc001vid.3	-	2	1880	c.1516G>T	c.(1516-1518)GCT>TCT	p.A506S	PCDH20_uc010thj.1_Missense_Mutation_p.A506S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	479	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCCACCACAGCTACTTCATAG	0.388		NaN											1	0	9.61239e-26	0.01441	1.35489e-25	63	78				
COCH	1690	broad.mit.edu	37	14	31349663	31349663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:31349663C>T	uc001wqr.2	+	7	522	c.442C>T	c.(442-444)CGA>TGA	p.R148*	COCH_uc001wqp.2_Nonsense_Mutation_p.R148*|COCH_uc001wqq.3_Nonsense_Mutation_p.R148*|uc001wqs.2_Intron|COCH_uc001wqt.1_Translation_Start_Site	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	148					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTCAGGTAAACGACTAAAGAA	0.413		NaN											0	0	0	0.010729	0	8	12				
FAM71D	161142	broad.mit.edu	37	14	67671305	67671305	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:67671305G>A	uc001xja.1	+	5	665	c.411G>A	c.(409-411)ATG>ATA	p.M137I	FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	137										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CGGAGAACATGAGCCTGAAAG	0.493		NaN											0	0	0	0.001168	0	4	15				
ZFYVE1	53349	broad.mit.edu	37	14	73459948	73459948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:73459948G>A	uc001xnm.2	-	4	1746	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	ZFYVE1_uc010arj.2_Missense_Mutation_p.T369M	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	369						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGAAAAGTCCGTGGGAGGGTT	0.562		NaN											0	0	0	0.01441	0	47	50				
PTPN21	11099	broad.mit.edu	37	14	88983603	88983603	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:88983603G>A	uc001xwv.3	-	3	514	c.183C>T	c.(181-183)GTC>GTT	p.V61V	PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.V61V	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	61	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TGAAGTAAGTGACCTGGAAAG	0.433		NaN											0	0	0	0.006122	0	14	52				
DIO3	1735	broad.mit.edu	37	14	102028171	102028171	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:102028171C>T	uc010txq.1	+	1	484	c.260C>T	c.(259-261)TCG>TTG	p.S87L	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	87	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				ACCCTGGCGTCGCTCAAGGCG	0.662		NaN											0	0	0	0.001984	0	6	73				
PPP1R13B	23368	broad.mit.edu	37	14	104206397	104206397	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr14:104206397C>A	uc001yof.1	-	12	2639	c.2356G>T	c.(2356-2358)GCC>TCC	p.A786S	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.A653S	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	786	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GATGACGGGGCAGGCTCAGCG	0.602		NaN											1	0	1.4709e-25	0.01441	2.05371e-25	44	83				
VPS39	23339	broad.mit.edu	37	15	42454656	42454656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:42454656C>T	uc001zpd.2	-	23	2383	c.2232G>A	c.(2230-2232)ATG>ATA	p.M744I	VPS39_uc001zpc.2_Missense_Mutation_p.M733I|VPS39_uc001zpb.2_Missense_Mutation_p.M79I	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	744					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCGACAGGTACATCCGAAGCA	0.592		NaN											0	0	0	0.016723	0	12	44				
DMXL2	23312	broad.mit.edu	37	15	51741202	51741202	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:51741202G>T	uc002abf.2	-	43	9315	c.9090C>A	c.(9088-9090)AAC>AAA	p.N3030K	DMXL2_uc002abd.2_Missense_Mutation_p.N1122K|DMXL2_uc010ufy.1_Missense_Mutation_p.N3031K|DMXL2_uc010bfa.2_Missense_Mutation_p.N2394K|DMXL2_uc002abc.2_RNA	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	3030	WD 16.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CAAGAATTCTGTTAGGGATGT	0.408		NaN											1	0	2.74318e-10	0.006214	3.123e-10	8	22				
SLC24A1	9187	broad.mit.edu	37	15	65918083	65918083	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:65918083G>T	uc010ujf.1	+	2	1952	c.1665G>T	c.(1663-1665)TGG>TGT	p.W555C	SLC24A1_uc010ujd.1_Missense_Mutation_p.W555C|SLC24A1_uc010uje.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujg.1_Missense_Mutation_p.W555C|SLC24A1_uc010ujh.1_Missense_Mutation_p.W555C	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	555	Cytoplasmic (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						ACCTCACCTGGTGGCCCTTAT	0.522		NaN											1	0	1.21353e-23	0.01441	1.66299e-23	47	65				
CHRNB4	1143	broad.mit.edu	37	15	78922018	78922018	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:78922018C>A	uc002bed.1	-	5	741	c.629G>T	c.(628-630)AGG>ATG	p.R210M	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R28M	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	210	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GTTCACTGTCCTTCTCCCTGG	0.552		NaN											1	0	1.22047e-21	0.01441	1.62729e-21	67	100				
GP2	2813	broad.mit.edu	37	16	20322574	20322574	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:20322574G>T	uc002dgv.2	-	12	1668	c.1585C>A	c.(1585-1587)CTG>ATG	p.L529M	GP2_uc002dgw.2_Missense_Mutation_p.L526M|GP2_uc002dgx.2_Missense_Mutation_p.L382M|GP2_uc002dgy.2_Missense_Mutation_p.L379M	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	529						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						AGGACAGTCAGGAGGACCATA	0.522		NaN											1	0	8.30282e-39	0.01441	1.26682e-38	38	48				
ZNF267	10308	broad.mit.edu	37	16	31927534	31927534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:31927534C>G	uc002ecs.3	+	4	2173	c.1964C>G	c.(1963-1965)ACT>AGT	p.T655S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	655					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AGAAGTCATACTGGAGAGAGA	0.453		NaN											0	0	0	0.004672	0	3	86				
RPGRIP1L	23322	broad.mit.edu	37	16	53730066	53730066	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:53730066T>A	uc002ehp.2	-	3	291	c.227A>T	c.(226-228)AAA>ATA	p.K76I	RPGRIP1L_uc002eho.3_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.K76I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.K76I|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.K76I|RPGRIP1L_uc010cby.1_Missense_Mutation_p.K76I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	76	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TCATAACCTTTTAATTTTATC	0.323		NaN											0	0	0	0.021022	0	31	47				
CDYL2	124359	broad.mit.edu	37	16	80646693	80646693	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:80646693C>T	uc002ffs.2	-	5	1153	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	350						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						ATGGCCACCACGATAGGCTTC	0.562		NaN											0	0	0	0.012213	0	27	55				
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7576855G>A	uc002gim.2	-	9	1185	c.991C>T	c.(991-993)CAG>TAG	p.Q331*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	331	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.008361	0	26	44		Valid		
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	1.8453e-21	0.010771	2.43843e-21	31	32		Valid		
DNAH9	1770	broad.mit.edu	37	17	11584169	11584169	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:11584169C>A	uc002gne.2	+	19	3774	c.3706C>A	c.(3706-3708)CAA>AAA	p.Q1236K	DNAH9_uc010coo.2_Missense_Mutation_p.Q530K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1236	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACAGCAGCAATTCTGGGA	0.527		NaN											1	0	0.000978159	0.010729	0.00101949	10	17				
TOP2A	7153	broad.mit.edu	37	17	38564286	38564286	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:38564286C>G	uc002huq.2	-	12	1559	c.1433G>C	c.(1432-1434)AGA>ACA	p.R478T	TOP2A_uc002hur.1_Missense_Mutation_p.R119T	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	478					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATATTTGTCTCTCCCAACCAC	0.428		NaN											0	0	0	0.014323	0	19	37				
EME1	146956	broad.mit.edu	37	17	48452831	48452831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:48452831G>T	uc002iqs.1	+	2	335	c.262G>T	c.(262-264)GAA>TAA	p.E88*	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Nonsense_Mutation_p.E88*	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	88					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTGAAAGTGAAGATGAAGA	0.463		NaN						Direct_reversal_of_damage|Homologous_recombination					1	0	8.86878e-18	0.01441	1.12186e-17	37	53				
USP32	84669	broad.mit.edu	37	17	58268030	58268030	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:58268030C>A	uc002iyo.1	-	29	3822	c.3536G>T	c.(3535-3537)TGT>TTT	p.C1179F	USP32_uc002iyn.1_Missense_Mutation_p.C849F	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1179					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCAATTTTACAGCCTCTGCA	0.393		NaN											1	0	2.77807e-22	0.013114	3.73777e-22	39	55				
SDK2	54549	broad.mit.edu	37	17	71390398	71390398	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:71390398A>G	uc010dfm.2	-	26	3658	c.3658T>C	c.(3658-3660)TGG>CGG	p.W1220R	SDK2_uc002jjt.3_Missense_Mutation_p.W379R|SDK2_uc010dfn.2_Missense_Mutation_p.W899R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1220	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						ACCTCGCTCCAGCGCACCAGC	0.652		NaN											0	0	0	0.012319	0	16	16				
ARHGDIA	396	broad.mit.edu	37	17	79826899	79826899	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:79826899G>A	uc002kbp.2	-	5	507	c.468C>T	c.(466-468)TAC>TAT	p.Y156Y	ARHGDIA_uc002kjk.1_Silent_p.Y31Y|ARHGDIA_uc002kbq.2_Silent_p.Y156Y|ARHGDIA_uc002kbr.2_Intron|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Silent_p.Y156Y|ARHGDIA_uc010dig.1_RNA	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	156					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCAGGAACTCGTACTCCTCGG	0.652		NaN											0	0	0	0.021523	0	21	24				
NPC1	4864	broad.mit.edu	37	18	21119389	21119389	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr18:21119389G>A	uc002kum.3	-	19	3115	c.2841C>T	c.(2839-2841)TTC>TTT	p.F947F	NPC1_uc010xaz.1_Silent_p.F680F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	947					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCACCCAGTCGAAATAATCGT	0.502		NaN											0	0	0	0.00632	0	21	31				
C19orf21	126353	broad.mit.edu	37	19	758421	758421	+	Missense_Mutation	SNP	C	C	T	rs112598403		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:758421C>T	uc002lpo.2	+	2	1558	c.1475C>T	c.(1474-1476)CCG>CTG	p.P492L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	492										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGATGCCCGCAAGCCAAC	0.632		NaN											0	0	0	0.013726	0	25	4				
ZNF57	126295	broad.mit.edu	37	19	2917961	2917961	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:2917961C>T	uc002lwr.2	+	4	1490	c.1342C>T	c.(1342-1344)CAT>TAT	p.H448Y	ZNF57_uc010xha.1_Missense_Mutation_p.H416Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	448	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCCATAAATGTGA	0.443		NaN											0	0	0	0.014758	0	5	43				
ZNF57	126295	broad.mit.edu	37	19	2917975	2917975	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:2917975C>A	uc002lwr.2	+	4	1504	c.1356C>A	c.(1354-1356)CAC>CAA	p.H452Q	ZNF57_uc010xha.1_Missense_Mutation_p.H420Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	452	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACACTGTGGGAAGG	0.428		NaN											1	0	0.00024832	0.009096	0.00026251	4	43				
MUC16	94025	broad.mit.edu	37	19	9085867	9085867	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:9085867G>A	uc002mkp.2	-	1	6152	c.5948C>T	c.(5947-5949)TCC>TTC	p.S1983F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1983	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGTTGAGTGGACTGTTCAAT	0.478		NaN											0	0	0	0.01441	0	58	34				
ANGPTL6	83854	broad.mit.edu	37	19	10206748	10206748	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:10206748G>A	uc002mmx.1	-	2	610	c.492C>T	c.(490-492)TTC>TTT	p.F164F	ANGPTL6_uc002mmy.1_Silent_p.F164F	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	164					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGCTCGCGGAACTTGACGT	0.741		NaN											0	0	0	0.008871	0	11	12				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:12429722T>C	uc002mtp.2	-	4	1355	c.1117A>G	c.(1117-1119)ACG>GCG	p.T373A		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGATAACGTTTTCCCACAC	0.413		NaN											0	0	0	0.00308	0	5	167				
RPL18A	6142	broad.mit.edu	37	19	17972200	17972200	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:17972200C>A	uc002nhp.1	+	2	152	c.117C>A	c.(115-117)GTC>GTA	p.V39V	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	ribosomal protein L18a	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						ATCATGTCGTCGCCAAGTCCC	0.552		NaN											1	0	2.32078e-09	0.003163	2.62196e-09	11	9				
ZNF536	9745	broad.mit.edu	37	19	31040189	31040189	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:31040189G>T	uc002nsu.1	+	4	3801	c.3663G>T	c.(3661-3663)CTG>CTT	p.L1221L	ZNF536_uc010edd.1_Silent_p.L1221L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCCAGGGACTGGTCTCACCTT	0.647		NaN											1	0	4.62619e-21	0.019004	6.05908e-21	25	26				
ZNF573	126231	broad.mit.edu	37	19	38262256	38262256	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38262256C>T	uc002ohe.2	-	2	172	c.150G>A	c.(148-150)AGG>AGA	p.R50R	ZNF573_uc010efs.2_5'UTR|ZNF573_uc002ohd.2_Silent_p.R48R|ZNF573_uc002ohf.2_5'UTR|ZNF573_uc002ohg.2_5'UTR	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGTATAAGTCCCTCTGATTAG	0.418		NaN											0	0	0	0.006122	0	16	24				
RYR1	6261	broad.mit.edu	37	19	38966040	38966040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:38966040G>A	uc002oit.2	+	29	4373	c.4243G>A	c.(4243-4245)GTG>ATG	p.V1415M	RYR1_uc002oiu.2_Missense_Mutation_p.V1415M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1415	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACGACGTGGTGCCTGCAGA	0.607		NaN											0	0	0	0.016522	0	19	30				
GRIK5	2901	broad.mit.edu	37	19	42526200	42526200	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:42526200C>A	uc002osj.1	-	13	1631	c.1596G>T	c.(1594-1596)AAG>AAT	p.K532N	GRIK5_uc002osi.1_Missense_Mutation_p.K104N|GRIK5_uc010eib.1_Missense_Mutation_p.K451N	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	532	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGTAGCCAGGCTTGCGGCCCT	0.652		NaN											1	0	6.31663e-08	0.003163	6.97657e-08	13	18				
NOVA2	4858	broad.mit.edu	37	19	46443268	46443268	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:46443268C>T	uc002pdv.2	-	4	1380	c.1332G>A	c.(1330-1332)AAG>AAA	p.K444K		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	444	KH 3.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ACTCGCCCTTCTTGGAGATCT	0.657		NaN											0	0	0	0.01441	0	68	118				
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53855364_53855365CA>TG	uc010ydv.1	+	4	1553_1554	c.1436_1437CA>TG	c.(1435-1437)ACA>ATG	p.T479M	ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGTCAGACATCATCCCTTG	0.381		NaN											0	0	0	0.004672	0	4	94				
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	Missense_Mutation	SNP	A	A	G	rs147132093		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53958879A>G	uc010eqp.2	+	7	1576	c.1118A>G	c.(1117-1119)CAT>CGT	p.H373R	ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	373	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428		NaN											0	0	0	0.008291	0	8	232				
ZNF761	388561	broad.mit.edu	37	19	53958910	53958910	+	Silent	SNP	A	A	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:53958910A>G	uc010eqp.2	+	7	1607	c.1149A>G	c.(1147-1149)AAA>AAG	p.K383K	ZNF761_uc010ydy.1_Silent_p.K329K|ZNF761_uc002qbt.1_Silent_p.K329K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	383	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		AACCCTACAAATGTAATGAGT	0.413		NaN											0	0	0	0.006214	0	5	227				
NLRP11	204801	broad.mit.edu	37	19	56297208	56297208	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr19:56297208G>T	uc010ygf.1	-	12	3596	c.2885C>A	c.(2884-2886)ACC>AAC	p.T962N	NLRP11_uc002qlz.2_Missense_Mutation_p.T809N|NLRP11_uc002qmb.2_Missense_Mutation_p.T863N|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	962							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTGCTGGGTTTGTGTGTT	0.433		NaN											1	0	0.00074312	0.006122	0.000780013	18	28				
C2orf42	54980	broad.mit.edu	37	2	70392226	70392226	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392226C>T	uc002sgh.2	-	8	1679	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	451											0						ACTCTCACCTCTGGGGTATCT	0.428		NaN											0	0	0	0.01441	0	44	55				
C2orf42	54980	broad.mit.edu	37	2	70392294	70392294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:70392294C>G	uc002sgh.2	-	8	1611	c.1283G>C	c.(1282-1284)GGA>GCA	p.G428A		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	428											0						GGAAAAGGTTCCCAGTGGCAA	0.353		NaN											0	0	0	0.009535	0	28	30				
ZNF638	27332	broad.mit.edu	37	2	71651159	71651159	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:71651159C>A	uc002shx.2	+	22	4834	c.4515C>A	c.(4513-4515)AGC>AGA	p.S1505R	ZNF638_uc010yqw.1_Missense_Mutation_p.S1084R|ZNF638_uc002shy.2_Missense_Mutation_p.S1505R|ZNF638_uc002shz.2_Missense_Mutation_p.S1505R|ZNF638_uc002sia.2_Missense_Mutation_p.S1505R|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.S602R|ZNF638_uc002sid.2_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1505					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GGGATGACAGCAACAATAAGG	0.433		NaN											1	0	8.28177e-16	0.007413	1.02142e-15	15	28				
C2orf3	6936	broad.mit.edu	37	2	75915023	75915023	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:75915023C>T	uc002sno.2	-	11	1750	c.1620G>A	c.(1618-1620)AAG>AAA	p.K540K	C2orf3_uc010ffs.2_Silent_p.K102K|C2orf3_uc002snn.2_Silent_p.K371K|C2orf3_uc010fft.2_Silent_p.K215K	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	540					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TACTTTCCTTCTTTGAATCTT	0.338		NaN											0	0	0	0.00499	0	15	35				
CTNNA2	1496	broad.mit.edu	37	2	80101255	80101255	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:80101255G>A	uc010ysh.1	+	5	644	c.639G>A	c.(637-639)CTG>CTA	p.L213L	CTNNA2_uc010yse.1_Silent_p.L213L|CTNNA2_uc010ysf.1_Silent_p.L213L|CTNNA2_uc010ysg.1_Silent_p.L213L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	213					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGGGGCTCTGAAGAAGAATG	0.517		NaN											0	0	0	0.007291	0	26	23				
MFSD9	84804	broad.mit.edu	37	2	103353184	103353184	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:103353184C>T	uc002tcb.2	-	1	154	c.86G>A	c.(85-87)GGA>GAA	p.G29E	TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	29					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						CGCCTCGGTTCCTGTCTTCTG	0.677		NaN											0	0	0	0.012319	0	22	28				
TFCP2L1	29842	broad.mit.edu	37	2	122038802	122038802	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:122038802C>A	uc002tmx.2	-	2	201	c.108G>T	c.(106-108)CTG>CTT	p.L36L	TFCP2L1_uc010flr.2_Silent_p.L36L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	36	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TCTCGGGGGACAGCTGGGGTT	0.622		NaN											1	0	6.20995e-33	0.01441	9.09973e-33	63	115				
SCN1A	6323	broad.mit.edu	37	2	166848518	166848518	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:166848518C>A	uc010zcz.1	-	26	5252	c.5234G>T	c.(5233-5235)TGT>TTT	p.C1745F		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1756	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGGTTCCCACAGTCTCCCTT	0.468		NaN											1	0	1.07363e-35	0.01441	1.60502e-35	60	105				
XIRP2	129446	broad.mit.edu	37	2	168105238	168105238	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:168105238C>A	uc002udx.2	+	8	7354	c.7336C>A	c.(7336-7338)CTG>ATG	p.L2446M	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L2271M|XIRP2_uc010fpq.2_Missense_Mutation_p.L2224M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2271					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAAGTTGAACTGGCAACCTC	0.423		NaN											1	0	9.58827e-17	0.01441	1.19249e-16	41	59				
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:178098945G>C	uc002ulh.3	-	2	655	c.100C>G	c.(100-102)CGA>GGA	p.R34G	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.007413	0	18	7		Valid		
EEF1B2	1933	broad.mit.edu	37	2	207026135	207026135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr2:207026135G>C	uc002vbf.1	+	4	427	c.269G>C	c.(268-270)AGT>ACT	p.S90T	NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S90T|EEF1B2_uc002vbh.1_Missense_Mutation_p.S90T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	90						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						ACTACAGGAAGTGGAGCTACA	0.393		NaN											0	0	0	0.01441	0	58	80				
PCNT	5116	broad.mit.edu	37	21	47769714	47769714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr21:47769714G>A	uc002zji.3	+	8	1431	c.1324G>A	c.(1324-1326)GAG>AAG	p.E442K	PCNT_uc002zjj.2_Missense_Mutation_p.E324K|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	442	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CAAAGAGAGCGAGAAAGAAAA	0.433		NaN											0	0	0	0.007291	0	21	35				
HIRA	7290	broad.mit.edu	37	22	19393309	19393309	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:19393309C>T	uc002zpf.1	-	5	617	c.397G>A	c.(397-399)GAT>AAT	p.D133N	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.D133N|HIRA_uc010gro.1_Missense_Mutation_p.D89N|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	133	WD 3.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					TCCCACTCACCGCCTGAATGA	0.607		NaN											0	0	0	0.01892	0	22	37				
PIWIL3	440822	broad.mit.edu	37	22	25131817	25131817	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:25131817C>T	uc003abd.1	-	13	1909	c.1492G>A	c.(1492-1494)GAA>AAA	p.E498K	PIWIL3_uc011ajx.1_Missense_Mutation_p.E389K|PIWIL3_uc011ajy.1_Missense_Mutation_p.E389K|PIWIL3_uc010gut.1_Missense_Mutation_p.E498K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	498					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						AAGGGTAATTCTCTTATTTCT	0.373		NaN											0	0	0	0.01441	0	37	87				
CCDC157	550631	broad.mit.edu	37	22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:30772567T>C	uc011aku.1	+	12	2752	c.2092T>C	c.(2092-2094)TCT>CCT	p.S698P	CCDC157_uc011akv.1_Missense_Mutation_p.S698P|uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)	1						CACATCCCCATCTCGGCAGCC	0.667		NaN											0	0	0	0.010729	0	7	281				
ISX	91464	broad.mit.edu	37	22	35463109	35463109	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:35463109G>A	uc003anj.2	+	1	980	c.29G>A	c.(28-30)TGC>TAC	p.C10Y	ISX_uc011amg.1_5'UTR	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)	5						CCTGCTCTCTGCAGGGGTATG	0.602		NaN											0	0	0	0.00632	0	22	24				
SH3BP1	23616	broad.mit.edu	37	22	38061710	38061710	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr22:38061710G>T	uc003atj.1	+	17	2537	c.1650G>T	c.(1648-1650)GAG>GAT	p.E550D	PDXP_uc003atm.1_Missense_Mutation_p.E241D			Q9Y3L3	3BP1_HUMAN	SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);	Error:Variant_position_missing_in_Q9Y3L3_after_alignment					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ACCGCCTGGAGACCGACATCC	0.647		NaN											1	0	2.16659e-41	0.01441	3.34016e-41	68	150				
TGFBR2	7048	broad.mit.edu	37	3	30715617	30715617	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:30715617G>T	uc003ceo.2	+	5	1657	c.1275G>T	c.(1273-1275)ATG>ATT	p.M425I	TGFBR2_uc003cen.2_Missense_Mutation_p.M450I	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	425	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						CAAGATACATGGCTCCAGAAG	0.453		NaN											1	0	6.53348e-20	0.017118	8.48206e-20	26	6				
C3orf67	200844	broad.mit.edu	37	3	58849547	58849547	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:58849547C>T	uc003dkt.1	-	12	1364	c.955G>A	c.(955-957)GGT>AGT	p.G319S	C3orf67_uc003dks.1_Missense_Mutation_p.G134S|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.G134S|C3orf67_uc003dkw.2_Missense_Mutation_p.G214S	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	319											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GAGTCATCACCCAGAAGTAGA	0.463		NaN											0	0	0	0.007835	0	39	3				
TOPBP1	11073	broad.mit.edu	37	3	133341937	133341937	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:133341937C>G	uc003eps.2	-	19	3308	c.3176G>C	c.(3175-3177)GGA>GCA	p.G1059A	TOPBP1_uc003ept.1_Missense_Mutation_p.G63A	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1059					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						tattttaCCTCCTTTAGAGTC	0.229		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.008291	0	8	0				
HRG	3273	broad.mit.edu	37	3	186389456	186389456	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:186389456G>T	uc003fqq.2	+	4	459	c.436G>T	c.(436-438)GAT>TAT	p.D146Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	146	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GGTCCTCATAGATTTCTTTGA	0.453		NaN											1	0	1.06801e-11	0.009535	1.23489e-11	28	26				
PCYT1A	5130	broad.mit.edu	37	3	195975136	195975136	+	Silent	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr3:195975136G>A	uc003fwg.2	-	5	449	c.276C>T	c.(274-276)CAC>CAT	p.H92H	PCYT1A_uc003fwh.2_Silent_p.H92H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	92	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GAGCTCGGGCGTGACCAGAGT	0.413		NaN											0	0	0	0.001168	0	4	107				
UGT2B4	7363	broad.mit.edu	37	4	70355258	70355258	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:70355258C>T	uc003hek.3	-	3	948	c.901G>A	c.(901-903)GAA>AAA	p.E301K	UGT2B4_uc011cap.1_Missense_Mutation_p.E165K|UGT2B4_uc003hel.3_Missense_Mutation_p.E301K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	301					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						ACACCATTTTCTCCAGAGCTC	0.403		NaN											0	0	0	0.01441	0	69	16				
MAPK10	5602	broad.mit.edu	37	4	87022213	87022213	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:87022213T>G	uc003hpq.2	-	7	789	c.722A>C	c.(721-723)AAG>ACG	p.K241T	MAPK10_uc010ikg.2_Missense_Mutation_p.K203T|MAPK10_uc003hpr.2_Missense_Mutation_p.K203T|MAPK10_uc003hps.2_Missense_Mutation_p.K241T|MAPK10_uc003hpt.2_Missense_Mutation_p.K241T|MAPK10_uc003hpu.2_Missense_Mutation_p.K241T|MAPK10_uc003hpv.2_Missense_Mutation_p.K96T|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Missense_Mutation_p.K96T|MAPK10_uc011ccw.1_Missense_Mutation_p.K127T|MAPK10_uc003hpp.2_Missense_Mutation_p.K96T	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	241	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACCGTTCTCCTTGTAGCCCAT	0.498		NaN											0	0	0	0.01441	0	39	11				
EGF	1950	broad.mit.edu	37	4	110884383	110884383	+	Missense_Mutation	SNP	C	C	A	rs150311153	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:110884383C>A	uc003hzy.3	+	9	1819	c.1367C>A	c.(1366-1368)CCA>CAA	p.P456Q	EGF_uc011cfu.1_Missense_Mutation_p.P414Q|EGF_uc011cfv.1_Missense_Mutation_p.P456Q	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	456	EGF-like 4.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCTTAGCCCAGTATCCTGG	0.448		NaN											1	0	8.84886e-50	0.01441	1.39323e-49	83	19				
DCLK2	166614	broad.mit.edu	37	4	151023702	151023702	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr4:151023702G>T	uc003ilm.3	+	2	594	c.494G>T	c.(493-495)TGG>TTG	p.W165L	DCLK2_uc003iln.3_Missense_Mutation_p.W165L|DCLK2_uc003ilo.3_Missense_Mutation_p.W165L|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	165					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					AATCCAAACTGGTCTGTGAAC	0.393		NaN											1	0	2.19489e-29	0.00623	3.15382e-29	29	4				
SLC6A19	340024	broad.mit.edu	37	5	1219713	1219713	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:1219713C>T	uc003jbw.3	+	10	1528	c.1472C>T	c.(1471-1473)TCC>TTC	p.S491F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	491	Helical; Name=10; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TATGCCGGCTCCATTCCCCTG	0.592		NaN											0	0	0	0.010818	0	30	80				
ADAMTS12	81792	broad.mit.edu	37	5	33614431	33614431	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:33614431C>A	uc003jia.1	-	16	2602	c.2439G>T	c.(2437-2439)CAG>CAT	p.Q813H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q728H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	813	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGCCATCTTTCTGGATTGTGT	0.478		NaN								HNSCC(64;0.19)			1	0	3.1745e-13	0.008361	3.7586e-13	21	72				
CMYA5	202333	broad.mit.edu	37	5	79027444	79027444	+	Silent	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:79027444G>T	uc003kgc.2	+	2	2928	c.2856G>T	c.(2854-2856)GTG>GTT	p.V952V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	952						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGCATTTGTGTCAGAATTCT	0.393		NaN											1	0	1.64293e-13	0.01892	1.96092e-13	20	2				
EPB41L4A	64097	broad.mit.edu	37	5	111576460	111576460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr5:111576460G>T	uc003kpv.1	-	10	1117	c.843C>A	c.(841-843)TGC>TGA	p.C281*		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	281	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGAGGTGCTTGCAAGCAGTTT	0.343		NaN											1	0	1.48458e-05	0.017118	1.61557e-05	24	6				
TNXB	7148	broad.mit.edu	37	6	32029938	32029938	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:32029938C>A	uc003nzl.2	-	20	7366	c.7164G>T	c.(7162-7164)GTG>GTT	p.V2388V		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2450					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACTCACCTGTCACCCCGATGG	0.627		NaN											1	0	3.45872e-05	0.004007	3.73642e-05	14	16				
CDKN1A	1026	broad.mit.edu	37	6	36652020	36652020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr6:36652020C>T	uc003omm.3	+	2	264	c.142C>T	c.(142-144)CGA>TGA	p.R48*	CDKN1A_uc011dtq.1_Nonsense_Mutation_p.R82*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.R48*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.R48*	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	48					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GGCCCGTGAGCGATGGAACTT	0.662		NaN							Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.012213	0	29	58		Valid		
AMPH	273	broad.mit.edu	37	7	38500927	38500927	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:38500927C>T	uc003tgu.2	-	11	1042	c.973G>A	c.(973-975)GAG>AAG	p.E325K	AMPH_uc003tgv.2_Missense_Mutation_p.E325K|AMPH_uc003tgt.2_Missense_Mutation_p.E78K	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	325					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						AAGTTGTCCTCAAAGAAACTG	0.488		NaN											0	0	0	0.01441	0	54	79				
ZNF735	730291	broad.mit.edu	37	7	63680313	63680313	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:63680313G>A	uc011kdn.1	+	4	884	c.884G>A	c.(883-885)AGA>AAA	p.R295K		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGGAGAGAGACCCTACAAA	0.448		NaN											0	0	0	0.004672	0	3	77				
OR2A12	346525	broad.mit.edu	37	7	143793013	143793013	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:143793013G>C	uc011kty.1	+	1	813	c.813G>C	c.(811-813)AAG>AAC	p.K271N		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	271	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					AACGGAGGAAGATCCTTTCCC	0.522		NaN											0	0	0	0.001984	0	6	262				
EZH2	2146	broad.mit.edu	37	7	148511213	148511213	+	Silent	SNP	C	C	A	rs144723981		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:148511213C>A	uc003wfd.1	-	15	1840	c.1674G>T	c.(1672-1674)CCG>CCT	p.P558P	EZH2_uc011kug.1_Silent_p.P507P|EZH2_uc003wfb.1_Silent_p.P563P|EZH2_uc003wfc.1_Silent_p.P519P|EZH2_uc011kuh.1_Silent_p.P549P	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	558	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGCGGCATCCCGGAAAGCGGT	0.473		NaN	Mis		DLBCL								1	0	2.43516e-34	0.01441	3.60404e-34	65	103				
MYOM2	9172	broad.mit.edu	37	8	2040194	2040194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:2040194C>T	uc003wpx.3	+	16	1987	c.1849C>T	c.(1849-1851)CGG>TGG	p.R617W	MYOM2_uc011kwi.1_Missense_Mutation_p.R42W	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	617	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCTCCGGGTCGGGTTCTTGC	0.547		NaN											0	0	0	0.01441	0	98	131				
RP1	6101	broad.mit.edu	37	8	55542115	55542115	+	Missense_Mutation	SNP	G	G	T	rs139088785	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:55542115G>T	uc003xsd.1	+	4	5821	c.5673G>T	c.(5671-5673)TTG>TTT	p.L1891F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1891					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCAACCATTGCCTGGCAGTA	0.388		NaN											1	0	3.90053e-15	0.012213	4.73179e-15	30	50				
PRDM14	63978	broad.mit.edu	37	8	70970924	70970924	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:70970924C>T	uc003xym.2	-	6	1539	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	446	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GATCCGAAGCCGGTCCCGCTT	0.507		NaN											0	0	0	0.015359	0	29	42				
FAM91A1	157769	broad.mit.edu	37	8	124787454	124787454	+	Silent	SNP	C	C	T			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:124787454C>T	uc003yqv.2	+	3	286	c.225C>T	c.(223-225)CTC>CTT	p.L75L	FAM91A1_uc011lik.1_Silent_p.L75L|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	75										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAGATCATCTCATGCTGTACC	0.388		NaN											0	0	0	0.005524	0	35	39				
MPDZ	8777	broad.mit.edu	37	9	13121876	13121876	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:13121876C>G	uc010mia.1	-	37	5150	c.5093G>C	c.(5092-5094)AGA>ACA	p.R1698T	MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.R232T|MPDZ_uc010mib.2_Missense_Mutation_p.R403T|MPDZ_uc010mhx.2_Missense_Mutation_p.R520T|MPDZ_uc011lmm.1_Missense_Mutation_p.R557T|MPDZ_uc003zkz.3_Missense_Mutation_p.R391T|MPDZ_uc010mhy.2_Missense_Mutation_p.R1698T|MPDZ_uc010mhz.2_Missense_Mutation_p.R1665T|MPDZ_uc011lmn.1_Missense_Mutation_p.R1665T|MPDZ_uc003zlb.3_Missense_Mutation_p.R1698T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1698	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCGTCTGTCTCAGGACATT	0.473		NaN											0	0	0	0.010729	0	11	2				
NTRK2	4915	broad.mit.edu	37	9	87366903	87366903	+	Silent	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:87366903C>A	uc004aoa.1	+	14	2237	c.1299C>A	c.(1297-1299)GTC>GTA	p.V433V	NTRK2_uc004anv.1_Silent_p.V420V|NTRK2_uc004any.1_Silent_p.V433V|NTRK2_uc004anz.1_Silent_p.V433V|NTRK2_uc011lsz.1_Silent_p.V433V|NTRK2_uc011lta.1_Silent_p.V433V|NTRK2_uc004aob.1_Silent_p.V433V|NTRK2_uc011ltb.1_Silent_p.V277V|NTRK2_uc004aoc.2_5'UTR	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	433	Helical; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TTCTCTAGGTCTATGCTGTGG	0.368		NaN								TSP Lung(25;0.17)			1	0	8.73648e-17	0.019004	1.09576e-16	29	35				
PTCH1	5727	broad.mit.edu	37	9	98209683	98209683	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:98209683C>A	uc004avk.3	-	23	4043	c.3855G>T	c.(3853-3855)CAG>CAT	p.Q1285H	PTCH1_uc010mrn.2_Missense_Mutation_p.Q77H|PTCH1_uc010mro.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrp.2_Missense_Mutation_p.Q1134H|PTCH1_uc010mrq.2_Missense_Mutation_p.Q1134H|PTCH1_uc004avl.3_Missense_Mutation_p.Q1134H|PTCH1_uc010mrr.2_Missense_Mutation_p.Q1219H|PTCH1_uc004avm.3_Missense_Mutation_p.Q1284H	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1285	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGGTGGGGCTGCTGTCTCG	0.677		NaN							Basal_Cell_Nevus_syndrome				1	0	1.49228e-48	0.01441	2.32482e-48	76	85				
OR1Q1	158131	broad.mit.edu	37	9	125377931	125377931	+	Missense_Mutation	SNP	G	G	A	rs112809062		TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:125377931G>A	uc011lyy.1	+	1	915	c.915G>A	c.(913-915)ATG>ATA	p.M305I		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGAAATGGATGAGCAGAATGC	0.443		NaN											0	0	0	0.021022	0	32	24				
ZBTB43	23099	broad.mit.edu	37	9	129595162	129595162	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr9:129595162G>A	uc004bql.2	+	3	647	c.374G>A	c.(373-375)GGA>GAA	p.G125E	ZBTB43_uc010mxf.2_Missense_Mutation_p.G125E	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTTTTAGAGGGAAACCCTACA	0.483		NaN											0	0	0	0.00499	0	15	24				
GUCY2F	2986	broad.mit.edu	37	X	108708376	108708376	+	Missense_Mutation	SNP	C	C	A	rs149453194	byFrequency	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:108708376C>A	uc004eod.3	-	3	1303	c.1027G>T	c.(1027-1029)GAT>TAT	p.D343Y	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	343	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						CTTACTTGATCGAACTCCAGC	0.433		NaN											1	0	8.40228e-50	0.01441	1.33714e-49	61	7				
AFF2	2334	broad.mit.edu	37	X	148055007	148055007	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chrX:148055007A>C	uc004fcp.2	+	16	3753	c.3274A>C	c.(3274-3276)AAA>CAA	p.K1092Q	AFF2_uc004fcq.2_Missense_Mutation_p.K1082Q|AFF2_uc004fcr.2_Missense_Mutation_p.K1053Q|AFF2_uc011mxb.1_Missense_Mutation_p.K1057Q|AFF2_uc004fcs.2_Missense_Mutation_p.K1057Q|AFF2_uc011mxc.1_Missense_Mutation_p.K733Q	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1092					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTCGAGAAATTTGGCAA	0.373		NaN											0	0	0	0.01441	0	76	6				
PRKCZ	5590	broad.mit.edu	37	1	2105377	2105377	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:2105377G>C	uc001aiq.2	+	14	1488	c.1327G>C	c.(1327-1329)GAG>CAG	p.E443Q	PRKCZ_uc001air.2_Missense_Mutation_p.E260Q|PRKCZ_uc010nyw.1_Missense_Mutation_p.E339Q|PRKCZ_uc001ais.2_Missense_Mutation_p.E260Q|PRKCZ_uc009vla.2_Missense_Mutation_p.E267Q|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.E291Q	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	443	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CCTCATGTTTGAGATGATGGC	0.627		NaN									OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	51	84				
ACTRT2	140625	broad.mit.edu	37	1	2938571	2938571	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:2938571G>A	uc001ajz.2	+	1	526	c.321G>A	c.(319-321)CTG>CTA	p.L107L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	107						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACCAGCCCCTGCTTGCAACGG	0.597		NaN											0	0	0	0.010818	0	31	49				
THAP3	90326	broad.mit.edu	37	1	6688662	6688662	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:6688662C>T	uc001aoc.2	+	3	337	c.178C>T	c.(178-180)CGG>TGG	p.R60W	THAP3_uc001aod.2_Missense_Mutation_p.R60W|THAP3_uc001aoe.1_Missense_Mutation_p.R60W			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	60	THAP-type.						DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CGAGCACTTCCGGCCAGAGTG	0.607		NaN											0	0	0	0.00333	0	19	24				
CAMTA1	23261	broad.mit.edu	37	1	7724825	7724825	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:7724825G>A	uc001aoi.2	+	9	2425	c.2218G>A	c.(2218-2220)GTG>ATG	p.V740M		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCGGGCAACGTGGTGCAGGG	0.647		NaN											0	0	0	0.013114	0	36	56				
TARDBP	23435	broad.mit.edu	37	1	11078800	11078800	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:11078800A>C	uc001art.2	+	4	547	c.413A>C	c.(412-414)GAT>GCT	p.D138A	TARDBP_uc010oap.1_Missense_Mutation_p.D22A	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	138	RRM 1.			Missing: Completely abolishes RNA binding.	3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTCAAGAAAGATCTTAAGACT	0.368		NaN											0	0	0	0.00308	0	6	137				
TNFRSF8	943	broad.mit.edu	37	1	12183421	12183421	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:12183421G>C	uc001atq.2	+	9	1249	c.1027G>C	c.(1027-1029)GAG>CAG	p.E343Q	TNFRSF8_uc010obc.1_Missense_Mutation_p.E232Q|TNFRSF8_uc001atr.2_5'Flank|TNFRSF8_uc001ats.2_5'Flank	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	343	Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGAATGGCGAGGCGCCTGC	0.652		NaN											0	0	0	0.004482	0	7	14				
KDM1A	23028	broad.mit.edu	37	1	23376901	23376901	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:23376901A>G	uc001bgi.2	+	3	688	c.539A>G	c.(538-540)CAG>CGG	p.Q180R	KDM1A_uc001bgj.2_Missense_Mutation_p.Q200R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	180	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GCAGCTTTCCAGAGCCGACTT	0.448		NaN											0	0	0	0.010504	0	19	59				
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:24768670C>T	uc001bjh.2	+	4	695	c.288C>T	c.(286-288)TTC>TTT	p.F96F	NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96	Helical; (Potential).					integral to membrane					0						CCTACGCCTTCGCGCCGCTGT	0.632		NaN											0	0	0	0.01441	0	50	93				
ADC	113451	broad.mit.edu	37	1	33562402	33562402	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:33562402C>T	uc001bwr.2	+	9	1435	c.848C>T	c.(847-849)TCG>TTG	p.S283L	ADC_uc001bws.2_Missense_Mutation_p.S283L|ADC_uc009vue.2_Missense_Mutation_p.S283L|ADC_uc001bwt.1_Missense_Mutation_p.S188L|ADC_uc001bwu.2_Missense_Mutation_p.S188L|ADC_uc001bwv.2_Missense_Mutation_p.S188L|ADC_uc001bww.2_Missense_Mutation_p.S188L|ADC_uc001bwx.1_Missense_Mutation_p.S260L|ADC_uc001bwz.1_Missense_Mutation_p.S283L|ADC_uc009vuf.1_Missense_Mutation_p.S125L|ADC_uc001bwy.1_Missense_Mutation_p.S132L|ADC_uc009vug.2_Missense_Mutation_p.S283L	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	283					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TACGTGACCTCGGCCTTCACT	0.587		NaN											0	0	0	0.001984	0	6	143				
CSMD2	114784	broad.mit.edu	37	1	33987121	33987121	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:33987121G>A	uc001bxn.1	-	67	10136	c.10107C>T	c.(10105-10107)TTC>TTT	p.F3369F	CSMD2_uc001bxm.1_Silent_p.F3513F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3369	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGGTAGATGAAGGTGGCTC	0.577		NaN											0	0	0	0.005524	0	27	48				
ZMYM6	9204	broad.mit.edu	37	1	35452810	35452810	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:35452810C>G	uc001byh.2	-	16	4101	c.3873G>C	c.(3871-3873)TTG>TTC	p.L1291F	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.L1194F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1291					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGACTCAGTCAAAGCTGAAA	0.368		NaN											0	0	0	0.006122	0	14	32				
SNIP1	79753	broad.mit.edu	37	1	38003556	38003556	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:38003556G>A	uc001cbi.2	-	4	1057	c.984C>T	c.(982-984)ATC>ATT	p.I328I	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	328	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				CAAGGTCAATGATGTAGGGCT	0.433		NaN											0	0	0	0.013726	0	30	52				
CCDC18	343099	broad.mit.edu	37	1	93692001	93692001	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:93692001G>A	uc001dpq.2	+	17	2809	c.2641G>A	c.(2641-2643)GAA>AAA	p.E881K	CCDC18_uc009wdl.1_Missense_Mutation_p.E398K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	762	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAGAAATCTGAAGAGGTAAA	0.249		NaN											0	0	0	0.004007	0	12	26				
DPYD	1806	broad.mit.edu	37	1	97981460	97981460	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:97981460A>T	uc001drv.2	-	13	1699	c.1562T>A	c.(1561-1563)CTA>CAA	p.L521Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	521					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAAGAGGGGTAGTTCAGGCTT	0.388		NaN											0	0	0	0.010729	0	7	51				
DPYD	1806	broad.mit.edu	37	1	98039506	98039506	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:98039506T>C	uc001drv.2	-	11	1286	c.1149A>G	c.(1147-1149)GAA>GAG	p.E383E		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	383					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTCACACTTTTCTTCCTTAG	0.368		NaN											0	0	0	0.007413	0	16	29				
PALMD	54873	broad.mit.edu	37	1	100154591	100154591	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:100154591G>C	uc001dsg.2	+	7	1218	c.775G>C	c.(775-777)GAG>CAG	p.E259Q	PALMD_uc001dsf.2_Missense_Mutation_p.E259Q	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	259					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAGTATCATGAGCCTGTATA	0.453		NaN											0	0	0	0.013114	0	37	78				
COL11A1	1301	broad.mit.edu	37	1	103487275	103487275	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:103487275T>C	uc001dul.2	-	9	1614	c.1296A>G	c.(1294-1296)GCA>GCG	p.A432A	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.A444A|COL11A1_uc001dun.2_Silent_p.A393A|COL11A1_uc009weh.2_Silent_p.A316A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	432	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTCAACCACTGCTGGTTCTC	0.353		NaN											0	0	0	0.004878	0	26	35				
POLR3C	10623	broad.mit.edu	37	1	145609263	145609263	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:145609263C>G	uc001eoh.2	-	2	235	c.74G>C	c.(73-75)GGA>GCA	p.G25A	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.G38A|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.G25A	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	25					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CAGATGGACTCCAATTTTTTC	0.428		NaN											0	0	0	0.008871	0	16	72				
SV2A	9900	broad.mit.edu	37	1	149884828	149884828	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:149884828C>T	uc001etg.2	-	2	1056	c.565G>A	c.(565-567)GTG>ATG	p.V189M	SV2A_uc001eth.2_Missense_Mutation_p.V189M	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	189	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTGGGCAGCACGAAGCCCACC	0.582		NaN											0	0	0	0.01441	0	105	87				
RPTN	126638	broad.mit.edu	37	1	152129435	152129435	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:152129435C>T	uc001ezs.1	-	3	205	c.140G>A	c.(139-141)AGA>AAA	p.R47K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	47	S-100-like (By similarity).|EF-hand 1.					proteinaceous extracellular matrix	calcium ion binding				0						GTCATTTGGTCTCTGTTAGGA	0.433		NaN											0	0	0	0.010729	0	9	156				
S100A9	6280	broad.mit.edu	37	1	153330787	153330787	+	Missense_Mutation	SNP	C	C	T	rs140601192	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:153330787C>T	uc001fbq.2	+	2	71	c.28C>T	c.(28-30)CGC>TGC	p.R10C		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	10					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAACGCAACATAGA	0.478		NaN											0	0	0	0.01441	0	39	105				
MEX3A	92312	broad.mit.edu	37	1	156046708	156046708	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:156046708G>C	uc001fnd.3	-	2	1220	c.1220C>G	c.(1219-1221)TCT>TGT	p.S407C		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	407	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ggaggaggcagaggagaagAG	0.622		NaN											0	0	0	0.000602	0	4	5				
OR10K1	391109	broad.mit.edu	37	1	158435644	158435644	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:158435644C>G	uc010pij.1	+	1	293	c.293C>G	c.(292-294)GCC>GGC	p.A98G		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGGGCTGTGCCATCCAAATG	0.493		NaN											0	0	0	0.001168	0	4	123				
OR10X1	128367	broad.mit.edu	37	1	158549434	158549434	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:158549434C>T	uc010pin.1	-	1	256	c.256G>A	c.(256-258)GAG>AAG	p.E86K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	86	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TAGCAGGTCTCAGAGAAGGAG	0.498		NaN											0	0	0	0.008871	0	18	42				
ASPM	259266	broad.mit.edu	37	1	197072567	197072567	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:197072567C>T	uc001gtu.2	-	18	6071	c.5814G>A	c.(5812-5814)AGG>AGA	p.R1938R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1938					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TACATTGCTTCCTTCCTGCAG	0.423		NaN											0	0	0	0.01441	0	59	158				
MDM4	4194	broad.mit.edu	37	1	204501325	204501325	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:204501325C>G	uc001hba.2	+	5	456	c.294C>G	c.(292-294)CTC>CTG	p.L98L	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_5'UTR|MDM4_uc001hay.1_Silent_p.L98L|MDM4_uc001hbb.2_5'UTR|MDM4_uc010pqy.1_RNA|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	98	SWIB.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACAGCCCTCTCTATGATATGC	0.358		NaN	A		GBM|bladder|retinoblastoma								0	0	0	0.012319	0	16	38				
SYT14	255928	broad.mit.edu	37	1	210187104	210187104	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:210187104C>G	uc009xcv.2	+	3	260	c.188C>G	c.(187-189)TCA>TGA	p.S63*	SYT14_uc001hhs.3_Nonsense_Mutation_p.S108*|SYT14_uc001hht.3_Nonsense_Mutation_p.S63*|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Nonsense_Mutation_p.S108*|SYT14_uc010pso.1_Nonsense_Mutation_p.S25*	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	63	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATCTTGGTTCAGAATACAGT	0.328		NaN											0	0	0	0.004007	0	14	68				
MIA3	375056	broad.mit.edu	37	1	222833629	222833629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:222833629C>T	uc001hnl.2	+	24	5095	c.5086C>T	c.(5086-5088)CGA>TGA	p.R1696*	MIA3_uc001hnm.2_Nonsense_Mutation_p.R574*	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1696	Pro-rich.|Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		TACTCTCAATCGAAGAGATAT	0.463		NaN											0	0	0	0.004656	0	19	54				
ITPKB	3707	broad.mit.edu	37	1	226827299	226827299	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:226827299C>T	uc010pvo.1	-	6	2852	c.2512G>A	c.(2512-2514)GAG>AAG	p.E838K		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	838							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CTGAAGGCCTCGGTGACCTGC	0.567		NaN											0	0	0	0.003954	0	16	35				
NID1	4811	broad.mit.edu	37	1	236205225	236205225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:236205225C>A	uc001hxo.2	-	4	1222	c.1120G>T	c.(1120-1122)GAG>TAG	p.E374*	NID1_uc009xgd.2_Nonsense_Mutation_p.E374*	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	374					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTGTTTCCTCAACTTCATCC	0.512		NaN											1	0	4.39465e-27	0.013726	4.8072e-27	27	42				
OR2T6	254879	broad.mit.edu	37	1	248550938	248550938	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:248550938G>C	uc001iei.1	+	1	29	c.29G>C	c.(28-30)AGA>ACA	p.R10T		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTGACCAGAGGCTTTACC	0.408		NaN											0	0	0	0.010504	0	14	62				
C10orf18	54906	broad.mit.edu	37	10	5798582	5798582	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:5798582C>T	uc001iij.2	+	16	7238	c.6613C>T	c.(6613-6615)CTG>TTG	p.L2205L	C10orf18_uc001iik.2_Silent_p.L1049L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2205										ovary(1)|central_nervous_system(1)	2						TCAGAACCTTCTGAGGAAAGG	0.338		NaN											0	0	0	0.00333	0	17	36				
KIN	22944	broad.mit.edu	37	10	7829810	7829810	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:7829810C>G	uc001ijt.2	-	1	135	c.87G>C	c.(85-87)CAG>CAC	p.Q29H	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.Q29H|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	29	C2H2-type.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCTGGCACATCTGGCAATACC	0.627		NaN											0	0	0	0.01441	0	73	117				
SEPHS1	22929	broad.mit.edu	37	10	13361208	13361208	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:13361208C>G	uc001imk.2	-	9	1472	c.1113G>C	c.(1111-1113)CGG>CGC	p.R371R	SEPHS1_uc001imh.2_Silent_p.R295R|SEPHS1_uc010qbs.1_Silent_p.R323R|SEPHS1_uc001imi.2_Silent_p.R369R|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Silent_p.R304R	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	371					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						CCTCGATGATCCGGGGTTTGT	0.478		NaN											0	0	0	0.01441	0	79	195				
PIP4K2A	5305	broad.mit.edu	37	10	22830915	22830915	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:22830915C>G	uc001irl.3	-	8	1102	c.854G>C	c.(853-855)AGA>ACA	p.R285T	PIP4K2A_uc010qcu.1_Missense_Mutation_p.R145T	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	285	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						CTGTTCGGCTCTCTCCACATC	0.607		NaN											0	0	0	0.004878	0	33	56				
MPP7	143098	broad.mit.edu	37	10	28348590	28348590	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:28348590T>C	uc001iua.1	-	16	1691	c.1287A>G	c.(1285-1287)GTA>GTG	p.V429V	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.V429V|MPP7_uc009xla.2_Silent_p.V429V|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	429	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TGTTATTTTGTACATCTGTCT	0.358		NaN											0	0	0	0.009096	0	3	76				
ARHGAP12	94134	broad.mit.edu	37	10	32096725	32096725	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:32096725T>C	uc001ivz.1	-	20	2672	c.2402A>G	c.(2401-2403)TAT>TGT	p.Y801C	ARHGAP12_uc001ivy.1_Missense_Mutation_p.Y747C|ARHGAP12_uc009xls.2_Missense_Mutation_p.Y752C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Y794C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Y769C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Y722C|ARHGAP12_uc001ivw.1_RNA|ARHGAP12_uc001ivx.1_Missense_Mutation_p.Y100C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	801	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TATACTCTGATAGGTCATTCG	0.328		NaN											0	0	0	0.00245	0	12	30				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:37431050G>C	uc001iza.1	+	7	1156	c.1057G>C	c.(1057-1059)GCA>CCA	p.A353P		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGGCAGCAAAAGG	0.408		NaN											0	0	0	0.001984	0	5	74				
RET	5979	broad.mit.edu	37	10	43619223	43619223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:43619223G>A	uc001jal.2	+	17	3096	c.2906G>A	c.(2905-2907)CGG>CAG	p.R969Q	RET_uc001jak.1_Missense_Mutation_p.R969Q|RET_uc010qez.1_Missense_Mutation_p.R715Q	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	969	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCGGCCACCGGATGGAGAGG	0.597		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	0.009096	0	3	84				
HNRNPF	3185	broad.mit.edu	37	10	43883167	43883167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:43883167C>G	uc009xmh.1	-	3	653	c.166G>C	c.(166-168)GAG>CAG	p.E56Q	HNRNPF_uc001jar.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jas.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jat.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jav.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jau.2_Missense_Mutation_p.E56Q	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	56	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						ACAAAAGCCTCACCACTCTGC	0.493		NaN											0	0	0	0.010818	0	25	38				
SLC18A3	6572	broad.mit.edu	37	10	50819359	50819359	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:50819359C>T	uc001jhw.2	+	1	1013	c.573C>T	c.(571-573)TTC>TTT	p.F191F	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	191	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GCTCAGCCTTCGCCGACACGT	0.657		NaN											0	0	0	0.00308	0	6	14				
PCDH15	65217	broad.mit.edu	37	10	55581763	55581763	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:55581763A>T	uc001jju.1	-	33	6118	c.5723T>A	c.(5722-5724)CTA>CAA	p.L1908Q	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.L762Q|PCDH15_uc010qhv.1_Missense_Mutation_p.L1905Q|PCDH15_uc010qhw.1_Missense_Mutation_p.L1868Q|PCDH15_uc010qhx.1_Missense_Mutation_p.L1839Q|PCDH15_uc010qhy.1_Missense_Mutation_p.L1915Q|PCDH15_uc010qhz.1_Missense_Mutation_p.L1910Q|PCDH15_uc010qia.1_Missense_Mutation_p.L1888Q|PCDH15_uc010qib.1_Missense_Mutation_p.L1885Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1908	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTTGTGCGTAGATAGTTTTT	0.358		NaN								HNSCC(58;0.16)			0	0	0	0.001168	0	5	63				
DLG5	9231	broad.mit.edu	37	10	79590569	79590569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:79590569G>C	uc001jzk.2	-	10	1881	c.1811C>G	c.(1810-1812)TCC>TGC	p.S604C	DLG5_uc001jzj.2_Missense_Mutation_p.S359C|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S208C	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	604					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CGAGTCGTGGGAGCTGTGGGC	0.567		NaN											0	0	0	0.010729	0	10	35				
BTAF1	9044	broad.mit.edu	37	10	93778679	93778679	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:93778679C>T	uc001khr.2	+	34	4948	c.4850C>T	c.(4849-4851)TCA>TTA	p.S1617L		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1617					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CCTAAGCTCTCAGCTTTGAAA	0.353		NaN											0	0	0	0.006122	0	13	75				
CNNM2	54805	broad.mit.edu	37	10	104679843	104679843	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:104679843G>C	uc001kwm.2	+	1	1730	c.1606G>C	c.(1606-1608)GAA>CAA	p.E536Q	CNNM2_uc001kwn.2_Missense_Mutation_p.E536Q|CNNM2_uc001kwl.2_Missense_Mutation_p.E536Q	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	536	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGCTATGCTGGAAGAATTTAA	0.463		NaN											0	0	0	0.012213	0	27	94				
CNNM2	54805	broad.mit.edu	37	10	104814140	104814140	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:104814140C>G	uc001kwm.2	+	3	1944	c.1820C>G	c.(1819-1821)TCT>TGT	p.S607C	CNNM2_uc001kwn.2_Missense_Mutation_p.S607C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	607					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGATTTTTCTGCCTTTAAG	0.433		NaN									OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	8	15				
MKI67	4288	broad.mit.edu	37	10	129899669	129899669	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:129899669C>T	uc001lke.2	-	14	9753	c.9558G>A	c.(9556-9558)CAG>CAA	p.Q3186Q	MKI67_uc001lkf.2_Silent_p.Q2826Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3186					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTCCCTTTCTGATTCTGCA	0.507		NaN											0	0	0	0.004289	0	30	73				
OR52I2	143502	broad.mit.edu	37	11	4608387	4608387	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:4608387C>T	uc010qyh.1	+	1	345	c.345C>T	c.(343-345)TTC>TTT	p.F115F		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	115	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCATCTTCTGCTCAGGAG	0.512		NaN											0	0	0	0.01441	0	61	75				
OR52I2	143502	broad.mit.edu	37	11	4608419	4608419	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:4608419C>G	uc010qyh.1	+	1	377	c.377C>G	c.(376-378)GCT>GGT	p.A126G		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	126	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTAGTGCTTGTTTCACT	0.517		NaN											0	0	0	0.004878	0	33	28				
TRIM5	85363	broad.mit.edu	37	11	5686256	5686256	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:5686256G>A	uc001mbm.1	-	8	1522	c.1265C>T	c.(1264-1266)TCT>TTT	p.S422F	TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	422	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GAAAGGAACAGAAGGAGTATG	0.398		NaN											0	0	0	0.005524	0	34	34				
DNHD1	144132	broad.mit.edu	37	11	6591874	6591874	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:6591874G>C	uc001mdw.3	+	42	13696	c.13132G>C	c.(13132-13134)GAG>CAG	p.E4378Q	DNHD1_uc001mea.3_Missense_Mutation_p.E647Q|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.E646Q|DNHD1_uc010rao.1_Missense_Mutation_p.E636Q|DNHD1_uc009yfg.2_Missense_Mutation_p.E3Q	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4378					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAATGGCAGAGTGCAAGGC	0.617		NaN											0	0	0	0.004672	0	2	7				
EIF4G2	1982	broad.mit.edu	37	11	10821737	10821737	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:10821737G>C	uc001mjc.2	-	18	2436	c.2019C>G	c.(2017-2019)CTC>CTG	p.L673L	EIF4G2_uc001mjb.2_Silent_p.L467L|EIF4G2_uc009ygf.2_Silent_p.L467L|EIF4G2_uc001mjd.2_Silent_p.L635L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	673					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGTAGGAAGAGAGGAAAAT	0.413		NaN											0	0	0	0.003163	0	15	13				
E2F8	79733	broad.mit.edu	37	11	19253898	19253898	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:19253898C>T	uc001mpm.2	-	7	1471	c.949G>A	c.(949-951)GAT>AAT	p.D317N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D317N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	317	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TTAGCTATATCATACAACCTC	0.358		NaN											0	0	0	0.003271	0	30	61				
PDHX	8050	broad.mit.edu	37	11	35006268	35006268	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:35006268C>G	uc001mvt.2	+	9	1701	c.1175C>G	c.(1174-1176)TCT>TGT	p.S392C	PDHX_uc010rep.1_Missense_Mutation_p.S377C|PDHX_uc010req.1_Missense_Mutation_p.S165C	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	392					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATTGCTGACTCTGTAAAGGTA	0.358		NaN											0	0	0	0.01441	0	51	111				
LRP4	4038	broad.mit.edu	37	11	46914632	46914632	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:46914632G>A	uc001ndn.3	-	13	1735	c.1589C>T	c.(1588-1590)TCA>TTA	p.S530L		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	530	Extracellular (Potential).|LDL-receptor class B 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CGAGGTGCCTGAGTCGGTCCA	0.592		NaN											0	0	0	0.004007	0	8	33				
FNBP4	23360	broad.mit.edu	37	11	47754150	47754150	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:47754150C>T	uc009ylv.2	-	11	1912	c.1759G>A	c.(1759-1761)GAA>AAA	p.E587K	FNBP4_uc001ngj.2_Missense_Mutation_p.E494K|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	587										ovary(1)	1						TTTAGTTGTTCTGCTGCATCC	0.443		NaN											0	0	0	0.00632	0	28	63				
OR4C3	256144	broad.mit.edu	37	11	48346641	48346641	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:48346641G>C	uc010rhv.1	+	1	149	c.149G>C	c.(148-150)AGA>ACA	p.R50T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GAGGTACAGAGAGTTCTCTTT	0.478		NaN											0	0	0	0.007835	0	32	52				
OR5M11	219487	broad.mit.edu	37	11	56310058	56310058	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:56310058G>A	uc010rjl.1	-	1	676	c.676C>T	c.(676-678)CGG>TGG	p.R226W		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATTTGATCCGGAGGATGGCA	0.493		NaN											0	0	0	0.003954	0	23	48				
TMX2	51075	broad.mit.edu	37	11	57480128	57480128	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:57480128C>T	uc001nlc.1	+	1	87	c.38C>T	c.(37-39)TCG>TTG	p.S13L	CTNND1_uc001nlf.1_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.2_5'Flank|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.S13L	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	13					cell redox homeostasis	integral to membrane					0						CTCGTGTATTCGGTGCCGCGA	0.622		NaN											0	0	0	0.003163	0	10	31				
VEGFB	7423	broad.mit.edu	37	11	64002948	64002948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:64002948G>A	uc001nyw.2	+	2	119	c.79G>A	c.(79-81)GAT>AAT	p.D27N	VEGFB_uc001nyx.2_Missense_Mutation_p.D27N	NM_003377	NP_003368	P49765	VEGFB_HUMAN	vascular endothelial growth factor B precursor	27					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding				0						CTCCCAGCCTGATGCCCCTGG	0.552		NaN											0	0	0	0.007291	0	23	49				
PYGM	5837	broad.mit.edu	37	11	64514251	64514251	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:64514251G>A	uc001oax.3	-	20	3226	c.2409C>T	c.(2407-2409)ATC>ATT	p.I803I	RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Silent_p.I715I	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	803					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CTATGTTCCGGATCACCATCC	0.607		NaN											0	0	0	0.01441	0	41	58				
FOSL1	8061	broad.mit.edu	37	11	65664326	65664326	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:65664326C>A	uc001ogg.1	-	2	438	c.251G>T	c.(250-252)CGG>CTG	p.R84L	FOSL1_uc010ros.1_Intron	NM_005438	NP_005429	P15407	FOSL1_HUMAN	FOS-like antigen 1	84					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				READ - Rectum adenocarcinoma(159;0.168)		CCCCAGGGCCCGGATGACTCC	0.647		NaN											1	0	4.7796e-09	0.004656	5.04305e-09	22	64				
DPP3	10072	broad.mit.edu	37	11	66272178	66272178	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:66272178C>T	uc001oig.1	+	17	2036	c.1974C>T	c.(1972-1974)CTC>CTT	p.L658L	DPP3_uc001oif.1_Silent_p.L658L|DPP3_uc010rpe.1_Silent_p.L647L|DPP3_uc001oih.1_Missense_Mutation_p.S26L	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	658					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TCCTCACCCTCAGGGACACGG	0.597		NaN											0	0	0	0.00632	0	24	91				
CABP4	57010	broad.mit.edu	37	11	67223206	67223206	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67223206G>T	uc001olo.2	+	1	389	c.312G>T	c.(310-312)CTG>CTT	p.L104L	CABP4_uc001oln.2_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	104					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGACTCCCTGCACGACGCTG	0.677		NaN											1	0	2.56e-06	0.009096	2.65408e-06	3	22				
CABP2	51475	broad.mit.edu	37	11	67287568	67287568	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67287568G>C	uc001omc.1	-	5	545	c.443C>G	c.(442-444)ACG>AGG	p.T148R	CABP2_uc001omd.1_Missense_Mutation_p.T91R|CABP2_uc001ome.1_Missense_Mutation_p.T154R	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	148					signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CATGTCTGCCGTCTCTGCCAG	0.657		NaN											0	0	0	0.010504	0	16	68				
ALDH3B1	221	broad.mit.edu	37	11	67789327	67789327	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67789327G>A	uc010rpy.1	+	9	1053	c.937G>A	c.(937-939)GAT>AAT	p.D313N	ALDH3B1_uc001omz.2_Missense_Mutation_p.D313N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D276N|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	313					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CGATGAGAGCGATCGCTACAT	0.657		NaN											0	0	0	0.01441	0	44	46				
FOLR3	2352	broad.mit.edu	37	11	71850770	71850770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:71850770G>C	uc001ory.1	+	5	809	c.759G>C	c.(757-759)CAG>CAC	p.Q253H	FOLR3_uc001orx.1_Missense_Mutation_p.Q211H			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	209					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GCTGCATCCAGATGTGGTTTG	0.577		NaN											0	0	0	0.010729	0	11	51				
ANKRD42	338699	broad.mit.edu	37	11	82938902	82938902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:82938902C>G	uc001ozz.1	+	7	1239	c.817C>G	c.(817-819)CCT>GCT	p.P273A	ANKRD42_uc010rsv.1_Missense_Mutation_p.P301A|ANKRD42_uc001paa.2_Missense_Mutation_p.P301A|ANKRD42_uc001pab.1_Missense_Mutation_p.P300A	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	273	ANK 8.									skin(1)	1						TGGATCAACTCCTATGCATAA	0.373		NaN											0	0	0	0.009718	0	35	101				
CCDC83	220047	broad.mit.edu	37	11	85630484	85630484	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:85630484C>G	uc001pbh.1	+	11	1685	c.1173C>G	c.(1171-1173)GTC>GTG	p.V391V	CCDC83_uc001pbg.1_Silent_p.V422V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Silent_p.V291V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	391										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATTCCAGTCAAACTCTATA	0.413		NaN											0	0	0	0.006122	0	16	39				
TYR	7299	broad.mit.edu	37	11	88924428	88924428	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:88924428C>T	uc001pcs.2	+	2	960	c.878C>T	c.(877-879)CCC>CTC	p.P293L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	293	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AATGGAACGCCCGAGGGACCT	0.473		NaN							Oculocutaneous_Albinism				0	0	0	0.00623	0	34	79				
JRKL	8690	broad.mit.edu	37	11	96124929	96124929	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:96124929A>G	uc009ywu.2	+	2	1368	c.1116A>G	c.(1114-1116)GCA>GCG	p.A372A	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.A372A	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	372	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TAGCAATGGCATGGAACTTAG	0.408		NaN											0	0	0	0.000602	0	3	134				
PDGFD	80310	broad.mit.edu	37	11	104034599	104034599	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:104034599C>T	uc001phq.2	-	1	429	c.57G>A	c.(55-57)CGG>CGA	p.R19R	PDGFD_uc001php.2_Silent_p.R19R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	19					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGAAGTGTCCCGACAGCTGC	0.488		NaN									OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	5	34				
KBTBD3	143879	broad.mit.edu	37	11	105924026	105924026	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:105924026C>G	uc001pja.2	-	4	2030	c.1390G>C	c.(1390-1392)GAG>CAG	p.E464Q	KBTBD3_uc001pjb.2_Missense_Mutation_p.E464Q|KBTBD3_uc009yxm.2_Missense_Mutation_p.E385Q	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	460	Kelch 4.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTGTAATCTCTACCTCTGAT	0.373		NaN											0	0	0	0.00632	0	25	28				
ATM	472	broad.mit.edu	37	11	108236064	108236064	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236064G>C	uc001pkb.1	+	63	9385	c.9000G>C	c.(8998-9000)CAG>CAC	p.Q3000H	ATM_uc009yxr.1_Missense_Mutation_p.Q3000H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Q1652H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3000					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATATTGACCAGAGTTTCAACA	0.403		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.014323	0	15	60		Valid		
ATM	472	broad.mit.edu	37	11	108236083	108236083	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236083G>A	uc001pkb.1	+	63	9404	c.9019G>A	c.(9019-9021)GAA>AAA	p.E3007K	ATM_uc009yxr.1_Missense_Mutation_p.E3007K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1659K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3007					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAAAGTAGCTGAACGTGTCTT	0.413		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.007291	0	17	65		Valid		
ATM	472	broad.mit.edu	37	11	108236128	108236128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236128G>T	uc001pkb.1	+	63	9449	c.9064G>T	c.(9064-9066)GAA>TAA	p.E3022*	ATM_uc009yxr.1_Nonsense_Mutation_p.E3022*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1674*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3022					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGGAGTGGAAGAAGGCACTGT	0.433		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			1	0	3.01185e-09	0.003954	3.18412e-09	17	59		Valid		
ATM	472	broad.mit.edu	37	11	108236160	108236160	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236160G>A	uc001pkb.1	+	63	9481	c.9096G>A	c.(9094-9096)GTG>GTA	p.V3032V	ATM_uc009yxr.1_Silent_p.V3032V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.V1684V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3032	FATC.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGACAAGTGAATTTGCTCA	0.443		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.00499	0	12	41				
ARHGAP20	57569	broad.mit.edu	37	11	110582892	110582892	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:110582892C>T	uc001pkz.1	-	2	348	c.63G>A	c.(61-63)CTG>CTA	p.L21L	ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	21					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACACTCCTGTCAGGGAAGAGG	0.473		NaN											0	0	0	0.006214	0	7	13				
ZW10	9183	broad.mit.edu	37	11	113608339	113608339	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:113608339G>C	uc001poe.2	-	14	2008	c.1971C>G	c.(1969-1971)CTC>CTG	p.L657L	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	657					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTGCTGTATTGAGTAAAGTCC	0.433		NaN											0	0	0	0.01441	0	38	92				
DSCAML1	57453	broad.mit.edu	37	11	117306394	117306394	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:117306394C>T	uc001prh.1	-	27	5024	c.5022G>A	c.(5020-5022)AAG>AAA	p.K1674K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1614	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTTCCTCTTCTTGCGTACGA	0.597		NaN											0	0	0	0.003954	0	21	54				
GRAMD1B	57476	broad.mit.edu	37	11	123448178	123448178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:123448178G>C	uc001pyx.2	+	2	456	c.127G>C	c.(127-129)GAG>CAG	p.E43Q	GRAMD1B_uc001pyw.2_Missense_Mutation_p.E43Q|GRAMD1B_uc010rzw.1_Missense_Mutation_p.E3Q|GRAMD1B_uc010rzx.1_Missense_Mutation_p.E3Q|GRAMD1B_uc009zbe.1_Missense_Mutation_p.E39Q	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	43						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACCATGGTGGAGAAGGGCTC	0.677		NaN									OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	5	6				
C11orf61	79684	broad.mit.edu	37	11	124637361	124637361	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:124637361T>C	uc001qba.1	-	4	1414	c.1391A>G	c.(1390-1392)CAG>CGG	p.Q464R	C11orf61_uc001qaz.1_Missense_Mutation_p.Q412R|C11orf61_uc010sap.1_Missense_Mutation_p.Q184R|C11orf61_uc001qay.1_Missense_Mutation_p.Q234R	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	464											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)		TATTTCCACCTGTAATGAGGC	0.498		NaN											0	0	0	0.004672	0	3	134				
CDON	50937	broad.mit.edu	37	11	125859579	125859579	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:125859579T>G	uc009zbw.2	-	15	2854	c.2726A>C	c.(2725-2727)GAA>GCA	p.E909A	CDON_uc001qdb.3_Missense_Mutation_p.E286A|CDON_uc001qdc.3_Missense_Mutation_p.E909A	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	909	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTCCTCCTTCATTGAAGCA	0.403		NaN											0	0	0	0.001168	0	5	110				
ARHGAP32	9743	broad.mit.edu	37	11	128839034	128839034	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:128839034C>A	uc009zcp.2	-	22	6032	c.6032G>T	c.(6031-6033)GGC>GTC	p.G2011V	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G970V|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1662V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	2011	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CTGGCGCTTGCCGTGTGGTTG	0.572		NaN											1	0	6.44725e-10	0.014323	6.8566e-10	19	55				
IGSF9B	22997	broad.mit.edu	37	11	133816031	133816031	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:133816031A>T	uc001qgx.3	-	2	418	c.187T>A	c.(187-189)TTC>ATC	p.F63I	IGSF9B_uc001qgz.2_RNA	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	63	Extracellular (Potential).|Ig-like 1.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGAACTTGAACCACTCTACG	0.612		NaN											0	0	0	0.00245	0	13	21				
CACNA1C	775	broad.mit.edu	37	12	2788756	2788756	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:2788756G>A	uc009zdu.1	+	44	5695	c.5382G>A	c.(5380-5382)GAG>GAA	p.E1794E	CACNA1C_uc009zdv.1_Silent_p.E1743E|CACNA1C_uc001qkb.2_Silent_p.E1746E|CACNA1C_uc001qkc.2_Silent_p.E1765E|CACNA1C_uc001qke.2_Silent_p.E1735E|CACNA1C_uc001qkf.2_Silent_p.E1754E|CACNA1C_uc001qjz.2_Silent_p.E1746E|CACNA1C_uc001qkd.2_Silent_p.E1765E|CACNA1C_uc001qkg.2_Silent_p.E1752E|CACNA1C_uc009zdw.1_Silent_p.E1787E|CACNA1C_uc001qkh.2_Silent_p.E1754E|CACNA1C_uc001qkl.2_Silent_p.E1794E|CACNA1C_uc001qkn.2_Silent_p.E1746E|CACNA1C_uc001qko.2_Silent_p.E1766E|CACNA1C_uc001qkp.2_Silent_p.E1746E|CACNA1C_uc001qkr.2_Silent_p.E1763E|CACNA1C_uc001qku.2_Silent_p.E1746E|CACNA1C_uc001qkq.2_Silent_p.E1774E|CACNA1C_uc001qks.2_Silent_p.E1746E|CACNA1C_uc001qkt.2_Silent_p.E1765E|CACNA1C_uc001qki.1_Silent_p.E1482E|CACNA1C_uc001qkj.1_Silent_p.E1482E|CACNA1C_uc001qkk.1_Silent_p.E1482E|CACNA1C_uc001qkm.1_Silent_p.E1471E|CACNA1C_uc010sea.1_Silent_p.E437E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E64E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1794	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATCCCACGAGAAGCTGGTGG	0.657		NaN											0	0	0	0.013537	0	11	24				
CLEC4C	170482	broad.mit.edu	37	12	7883463	7883463	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:7883463C>T	uc001qtg.1	-	5	601	c.427G>A	c.(427-429)GGG>AGG	p.G143R	CLEC4C_uc001qth.1_Missense_Mutation_p.G143R|CLEC4C_uc001qti.1_Missense_Mutation_p.G112R	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	143	Extracellular (Potential).|C-type lectin.				innate immune response	integral to membrane	sugar binding			ovary(2)|skin(1)	3				Kidney(36;0.0915)		TCTGACAGCCCCAGAAAATAA	0.378		NaN											0	0	0	0.005524	0	33	76				
SLCO1C1	53919	broad.mit.edu	37	12	20874807	20874807	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:20874807G>T	uc001rej.3	+	9	1200	c.845G>T	c.(844-846)GGA>GTA	p.G282V	SLCO1C1_uc010sii.1_Missense_Mutation_p.G282V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G233V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G116V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G282V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G164V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	282	Helical; Name=6; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CTAATAGCAGGAATCATAAGT	0.438		NaN											1	0	8.34094e-07	0.008871	8.69794e-07	19	31				
SLCO1B1	10599	broad.mit.edu	37	12	21355522	21355522	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:21355522A>G	uc001req.3	+	10	1337	c.1233A>G	c.(1231-1233)TCA>TCG	p.S411S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	411	Helical; Name=9; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCAAATTCTCATGTTTTACTG	0.343		NaN											0	0	0	0.004007	0	16	23				
C12orf72	254013	broad.mit.edu	37	12	31820829	31820829	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:31820829C>T	uc009zjr.2	+	4	903	c.694C>T	c.(694-696)CAC>TAC	p.H232Y	C12orf72_uc001rkl.2_Missense_Mutation_p.H232Y|C12orf72_uc001rkm.2_Missense_Mutation_p.H232Y	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	232						cytoplasm	protein methyltransferase activity				0						CATTCAGCATCACCTGCACAA	0.488		NaN											0	0	0	0.006999	0	30	59				
LMBR1L	55716	broad.mit.edu	37	12	49498238	49498238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:49498238G>A	uc001rth.3	-	5	770	c.428C>T	c.(427-429)TCC>TTC	p.S143F	LMBR1L_uc001rtg.3_Missense_Mutation_p.S138F|LMBR1L_uc001rti.3_Missense_Mutation_p.S143F|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_Missense_Mutation_p.S16F|LMBR1L_uc010smf.1_RNA	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	143	Cytoplasmic (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						TACCTTTCTGGAGCCAGCAAA	0.299		NaN											0	0	0	0.01441	0	54	132				
BCDIN3D	144233	broad.mit.edu	37	12	50232586	50232586	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:50232586G>A	uc001rvh.2	-	2	489	c.447C>T	c.(445-447)TTC>TTT	p.F149F	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	149	Bin3-type SAM.						methyltransferase activity			ovary(1)	1						ATTGGCTTAAGAAAGAGCTCA	0.443		NaN									OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003954	0	21	47				
GRASP	160622	broad.mit.edu	37	12	52403023	52403023	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:52403023G>A	uc001rzo.1	+	2	352	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	GRASP_uc001rzp.1_5'Flank	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	99						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GAACAGCAGCGGTGAGTCACC	0.597		NaN											0	0	0	0.00623	0	37	75				
KRT2	3849	broad.mit.edu	37	12	53045825	53045825	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:53045825C>G	uc001sat.2	-	1	135	c.102G>C	c.(100-102)CGG>CGC	p.R34R		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	34	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AAGTTGATCTCCGGCTTCCAC	0.522		NaN											0	0	0	0.00245	0	10	20				
RARG	5916	broad.mit.edu	37	12	53621231	53621231	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:53621231G>A	uc001sce.2	-	3	584	c.99C>T	c.(97-99)CTC>CTT	p.L33L	RARG_uc001scf.2_Silent_p.L33L|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	33	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAGACCCCCTGAGTGCCCCTG	0.647		NaN											0	0	0	0.001984	0	6	14				
STAC3	246329	broad.mit.edu	37	12	57637672	57637672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:57637672C>A	uc001snp.2	-	12	1213	c.1018G>T	c.(1018-1020)GAA>TAA	p.E340*	STAC3_uc009zpl.2_Missense_Mutation_p.R57L|STAC3_uc001snq.2_Nonsense_Mutation_p.E301*|STAC3_uc010srm.1_Nonsense_Mutation_p.E154*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	340	SH3 2.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						CCGCCCGCTTCGTCTCCTTTC	0.562		NaN									OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.12818e-05	0.001984	8.33022e-05	5	16				
NAV3	89795	broad.mit.edu	37	12	78515755	78515755	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:78515755C>G	uc001syp.2	+	16	3958	c.3785C>G	c.(3784-3786)TCT>TGT	p.S1262C	NAV3_uc001syo.2_Missense_Mutation_p.S1262C|NAV3_uc010sub.1_Missense_Mutation_p.S762C|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1262	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AAATCTGCCTCTGCACCTAAT	0.463		NaN								HNSCC(70;0.22)			0	0	0	0.004007	0	12	35				
PPFIA2	8499	broad.mit.edu	37	12	81741427	81741427	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:81741427G>T	uc001szo.1	-	18	2278	c.2117C>A	c.(2116-2118)GCC>GAC	p.A706D	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	632										ovary(3)|lung(2)|pancreas(1)	6						TGTAACAGAGGCAGTAATGGA	0.532		NaN											1	0	7.07328e-35	0.01441	7.81707e-35	64	103				
STAB2	55576	broad.mit.edu	37	12	104044296	104044296	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:104044296G>A	uc001tjw.2	+	11	1383	c.1197G>A	c.(1195-1197)CTG>CTA	p.L399L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	399	Extracellular (Potential).|FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCTGGCCACTGAGTAAGCTGG	0.448		NaN											0	0	0	0.00499	0	14	37				
OAS3	4940	broad.mit.edu	37	12	113388756	113388756	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:113388756C>G	uc001tug.2	+	7	1720	c.1633C>G	c.(1633-1635)CTG>GTG	p.L545V		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	545	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GGATGTTAGCCTGCTGCCTGC	0.617		NaN											0	0	0	0.008871	0	16	34				
TBX3	6926	broad.mit.edu	37	12	115118866	115118866	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:115118866C>G	uc001tvt.1	-	2	1439	c.475G>C	c.(475-477)GAT>CAT	p.D159H	TBX3_uc001tvu.1_Missense_Mutation_p.D159H|TBX3_uc010syw.1_Missense_Mutation_p.D159H	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	159	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGACAGTCATCAGCAGCTATA	0.438		NaN											0	0	0	0.004289	0	32	92				
DNAH10	196385	broad.mit.edu	37	12	124401030	124401030	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:124401030C>T	uc001uft.3	+	62	10420	c.10395C>T	c.(10393-10395)TTC>TTT	p.F3465F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3465	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCTGACTTCCTCAAGCAGC	0.478		NaN											0	0	0	0.01441	0	53	78				
PIBF1	10464	broad.mit.edu	37	13	73409499	73409499	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:73409499G>C	uc001vjc.2	+	9	1521	c.1216G>C	c.(1216-1218)GAA>CAA	p.E406Q	PIBF1_uc001vja.1_Missense_Mutation_p.E406Q|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E406Q|PIBF1_uc010aep.2_5'UTR	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	406						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTATGAACGAGAAAACAGGTA	0.269		NaN											0	0	0	0.003954	0	18	48				
MYCBP2	23077	broad.mit.edu	37	13	77714227	77714227	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:77714227C>T	uc001vkf.2	-	52	7450	c.7359G>A	c.(7357-7359)CAG>CAA	p.Q2453Q	MYCBP2_uc010aev.2_Silent_p.Q1857Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTATGCCTATCTGCTCACTCT	0.423		NaN											0	0	0	0.008291	0	10	36				
FARP1	10160	broad.mit.edu	37	13	99047670	99047670	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:99047670G>A	uc001vnj.2	+	13	1690	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	FARP1_uc001vnh.2_Missense_Mutation_p.E452K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	452	Poly-Glu.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAGGAAGAGGAGGAGGTCGT	0.687		NaN											0	0	0	0.00499	0	15	22				
ITGBL1	9358	broad.mit.edu	37	13	102359164	102359164	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:102359164C>G	uc001vpb.2	+	9	1410	c.1191C>G	c.(1189-1191)CTC>CTG	p.L397L	ITGBL1_uc010agb.2_Silent_p.L348L|ITGBL1_uc001vpc.3_Silent_p.L256L	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	397	VIII.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGGAAAGCTCTGCCAACATC	0.498		NaN											0	0	0	0.008291	0	7	54				
COL4A2	1284	broad.mit.edu	37	13	111117923	111117923	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:111117923C>T	uc001vqx.2	+	25	2237	c.1948C>T	c.(1948-1950)CCT>TCT	p.P650S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	650	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCCCTCCTGGCCCCGC	0.587		NaN											0	0	0	0.010729	0	9	18				
PARP2	10038	broad.mit.edu	37	14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:20824776G>A	uc001vxc.2	+	13	1324	c.1296G>A	c.(1294-1296)ATG>ATA	p.M432I	PARP2_uc001vxd.2_Missense_Mutation_p.M419I|PARP2_uc001vxb.1_Missense_Mutation_p.M432I|PARP2_uc010tle.1_Missense_Mutation_p.M182I	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	432	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	0.01441	0	57	185				
TEP1	7011	broad.mit.edu	37	14	20848600	20848600	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:20848600G>A	uc001vxe.2	-	34	4837	c.4797C>T	c.(4795-4797)CCC>CCT	p.P1599P	TEP1_uc010ahk.2_Silent_p.P942P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.P1491P|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1599					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGTCAGCCTCGGGGAGCTTTT	0.587		NaN											0	0	0	0.001984	0	5	36				
ACIN1	22985	broad.mit.edu	37	14	23533582	23533582	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:23533582G>A	uc001wit.3	-	11	2926	c.2598C>T	c.(2596-2598)ATC>ATT	p.I866I	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.I108I|ACIN1_uc001wiq.3_Silent_p.I108I|ACIN1_uc001wir.3_Silent_p.I139I|ACIN1_uc001wis.3_Silent_p.I547I|ACIN1_uc010akg.2_Silent_p.I865I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	866					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATTCAGTGGTGATACTGATGG	0.587		NaN											0	0	0	0.01441	0	60	113				
HECTD1	25831	broad.mit.edu	37	14	31611068	31611068	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:31611068C>T	uc001wrc.1	-	18	3358	c.2869G>A	c.(2869-2871)GAA>AAA	p.E957K	HECTD1_uc001wrd.1_Missense_Mutation_p.E472K	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	957					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTTACCTTTCATCATCTTCA	0.294		NaN											0	0	0	0.001168	0	6	10				
RALGAPA1	253959	broad.mit.edu	37	14	36128344	36128344	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:36128344C>A	uc001wti.2	-	27	4260	c.3869G>T	c.(3868-3870)CGA>CTA	p.R1290L	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1290L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1303L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1337L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1290					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TCCGACCTACCGTGCAGGACC	0.368		NaN											1	0	1.60099e-16	0.004878	1.72662e-16	27	21				
POLE2	5427	broad.mit.edu	37	14	50118022	50118022	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:50118022G>A	uc001wwu.2	-	16	1299	c.1285C>T	c.(1285-1287)CGT>TGT	p.R429C	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.R143C|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.R144C	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	429					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTAGGAAAACGGACGCAGTTT	0.328		NaN											0	0	0	0.001168	0	3	37				
SOS2	6655	broad.mit.edu	37	14	50585132	50585132	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:50585132T>C	uc001wxs.3	-	23	4027	c.3929A>G	c.(3928-3930)TAC>TGC	p.Y1310C	SOS2_uc010ans.2_Missense_Mutation_p.Y145C|SOS2_uc010tql.1_Missense_Mutation_p.Y1277C|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1310					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTCCCGTTTGTAAGTCTTTGG	0.483		NaN											0	0	0	0.00874	0	35	37				
VASH1	22846	broad.mit.edu	37	14	77242469	77242469	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:77242469G>A	uc001xst.2	+	5	1695	c.765G>A	c.(763-765)AAG>AAA	p.K255K		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	255					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ACGTGCTCAAGAAGGTGAAGC	0.677		NaN											0	0	0	0.00308	0	5	13				
GALC	2581	broad.mit.edu	37	14	88459326	88459326	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:88459326G>A	uc001xvt.2	-	1	582	c.183C>T	c.(181-183)GTC>GTT	p.V61V	GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.V61V|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.V61V	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	61					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						CGCCGCCGCTGACCGCGCCGA	0.776		NaN											0	0	0	0.004482	0	5	3				
TRIP11	9321	broad.mit.edu	37	14	92471337	92471337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:92471337G>A	uc001xzy.2	-	11	3771	c.2983C>T	c.(2983-2985)CAA>TAA	p.Q995*	TRIP11_uc010auf.1_Nonsense_Mutation_p.Q731*	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	995	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TTTGTTTCTTGAAAAATATCA	0.323		NaN	T	PDGFRB	AML								0	0	0	0.000602	0	5	24				
AK7	122481	broad.mit.edu	37	14	96924468	96924468	+	Missense_Mutation	SNP	G	G	C	rs149622950	by1000genomes	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:96924468G>C	uc001yfn.2	+	12	1320	c.1276G>C	c.(1276-1278)GAA>CAA	p.E426Q		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	426	Adenylate kinase.|Potential.|Poly-Glu.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		agaagaagtcgaagaggaaga	0.393		NaN											0	0	0	0.006122	0	18	20				
AHNAK2	113146	broad.mit.edu	37	14	105407021	105407021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:105407021C>G	uc010axc.1	-	7	14887	c.14767G>C	c.(14767-14769)GAA>CAA	p.E4923Q	AHNAK2_uc001ypx.2_Missense_Mutation_p.E4823Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4923						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAAGCTCTTCTGGGCCCTGA	0.587		NaN											0	0	0	0.008291	0	11	57				
CYFIP1	23191	broad.mit.edu	37	15	22925788	22925788	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:22925788G>T	uc001yus.2	+	2	110	c.6G>T	c.(4-6)GCG>GCT	p.A2A	CYFIP1_uc001yut.2_Silent_p.A2A|CYFIP1_uc010aya.1_Silent_p.A60A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	2					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGGATGGCGGCCCAGGTGA	0.647		NaN											1	0	0.000151284	0.001855	0.000154161	10	9				
MAP1A	4130	broad.mit.edu	37	15	43819552	43819552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43819552G>A	uc001zrt.2	+	4	6348	c.5881G>A	c.(5881-5883)GAT>AAT	p.D1961N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1961						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCTATCCTGATGAGAGAAG	0.562		NaN											0	0	0	0.008361	0	23	68				
MAP1A	4130	broad.mit.edu	37	15	43820098	43820098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43820098G>T	uc001zrt.2	+	4	6894	c.6427G>T	c.(6427-6429)GAG>TAG	p.E2143*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2143						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAGAAACTGAGGCACATGT	0.592		NaN											1	0	2.00529e-23	0.00333	2.18908e-23	19	87				
MAP1A	4130	broad.mit.edu	37	15	43821274	43821274	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43821274G>A	uc001zrt.2	+	4	8070	c.7603G>A	c.(7603-7605)GAA>AAA	p.E2535K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2535						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CGACTCAGATGAAGATGGAGA	0.587		NaN											0	0	0	0.01441	0	37	160				
TRIM69	140691	broad.mit.edu	37	15	45047506	45047506	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:45047506G>C	uc001zuf.2	+	3	1310	c.415G>C	c.(415-417)GAT>CAT	p.D139H	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.D139H|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	139	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCAATGCAAGGATGCTCGGTT	0.507		NaN											0	0	0	0.004289	0	30	36				
SEMA6D	80031	broad.mit.edu	37	15	48056959	48056959	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:48056959G>A	uc010bek.2	+	12	1582	c.1222G>A	c.(1222-1224)GAT>AAT	p.D408N	SEMA6D_uc001zvw.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvx.1_Missense_Mutation_p.D408N|SEMA6D_uc001zvy.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvz.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwa.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwb.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwc.2_Missense_Mutation_p.D408N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	408	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCCATTGCCGATGAGCCCTG	0.502		NaN											0	0	0	0.000602	0	4	52				
SLC12A1	6557	broad.mit.edu	37	15	48548007	48548007	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:48548007G>A	uc001zwn.3	+	16	2159	c.1943_splice	c.e16-1	p.D648_splice	SLC12A1_uc010uew.1_Splice_Site_p.D454_splice|SLC12A1_uc010bem.2_Splice_Site_p.D648_splice|SLC12A1_uc001zwq.3_Splice_Site_p.D419_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D375_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTATCCACAGATGTGAACTG	0.423		NaN											0	0	0	0.009096	0	3	10				
PRTG	283659	broad.mit.edu	37	15	55912272	55912272	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:55912272G>T	uc002adg.2	-	20	3439	c.3391C>A	c.(3391-3393)CAT>AAT	p.H1131N		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	1131					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTGGACTCATGAGAAAACCGC	0.483		NaN											1	0	1.36615e-20	0.013726	1.48832e-20	30	44				
ALDH1A2	8854	broad.mit.edu	37	15	58357784	58357784	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:58357784G>A	uc002aex.2	-	1	123	c.65C>T	c.(64-66)TCG>TTG	p.S22L	ALDH1A2_uc002aey.2_Missense_Mutation_p.S22L|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	22					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GAGGTGCAGCGACGCCATGAG	0.662		NaN											0	0	0	0.001855	0	10	17				
HERC1	8925	broad.mit.edu	37	15	63920999	63920999	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:63920999T>C	uc002amp.2	-	70	13130	c.12982A>G	c.(12982-12984)ACC>GCC	p.T4328A		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4328	RCC1 14.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ACATGGTTGGTATGGCCTAAG	0.468		NaN											0	0	0	0.01441	0	47	99				
ANKDD1A	348094	broad.mit.edu	37	15	65209672	65209672	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:65209672G>A	uc002aoa.2	+	3	255	c.226G>A	c.(226-228)GAG>AAG	p.E76K	ANKDD1A_uc002anx.1_Missense_Mutation_p.E76K|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Missense_Mutation_p.E46K	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	76	ANK 2.				signal transduction					ovary(1)	1						TGCTGTGGACGAGGAGGATGC	0.607		NaN											0	0	0	0.009096	0	2	3				
DIS3L	115752	broad.mit.edu	37	15	66625127	66625127	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:66625127C>T	uc010ujm.1	+	16	2750	c.2735C>T	c.(2734-2736)TCA>TTA	p.S912L	DIS3L_uc002app.2_Missense_Mutation_p.S829L|DIS3L_uc010bho.2_Missense_Mutation_p.S778L	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	912					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						TTAGTCATCTCATGTGGCCCA	0.363		NaN											0	0	0	0.011902	0	37	50				
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:69238236C>G	uc002arn.1	+	2	491	c.363C>G	c.(361-363)TTC>TTG	p.F121L	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	121					multicellular organismal development	acrosomal vesicle					0						GTACCCCATTCTGGTCGATCA	0.428		NaN											0	0	0	0.007413	0	16	18				
CYP1A2	1544	broad.mit.edu	37	15	75042806	75042806	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75042806C>G	uc002ayr.1	+	2	791	c.727C>G	c.(727-729)CGC>GGC	p.R243G		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	243					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCCCATCCTTCGCTACCTGCC	0.557		NaN											0	0	0	0.01441	0	43	65				
SCAMP5	192683	broad.mit.edu	37	15	75308956	75308956	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75308956G>A	uc002azk.1	+	4	321	c.159G>A	c.(157-159)GTG>GTA	p.V53V	SCAMP5_uc002azl.1_Silent_p.V53V|SCAMP5_uc002azm.1_Silent_p.V53V|SCAMP5_uc002azn.1_Silent_p.V53V|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	53	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						CGCTGGCCGTGAACCTGGTGG	0.617		NaN											0	0	0	0.007291	0	22	64				
SNX33	257364	broad.mit.edu	37	15	75942838	75942838	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75942838C>G	uc002bau.2	+	1	1491	c.1395C>G	c.(1393-1395)CTC>CTG	p.L465L	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_Intron	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	465	BAR.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						AGAATGACCTCTTCCAGATGC	0.542		NaN											0	0	0	0.01441	0	71	118				
SCAPER	49855	broad.mit.edu	37	15	76797229	76797229	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:76797229A>G	uc002bby.2	-	23	2984	c.2925T>C	c.(2923-2925)AAT>AAC	p.N975N	SCAPER_uc010bkr.2_Silent_p.N283N|SCAPER_uc002bbx.2_Silent_p.N729N|SCAPER_uc002bbz.1_Silent_p.N846N	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	974						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CTGTGTTCACATTTGTGGCTG	0.383		NaN											0	0	0	0.006122	0	13	23				
MORF4L1	10933	broad.mit.edu	37	15	79184578	79184578	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:79184578G>A	uc002bel.2	+	9	768	c.580G>A	c.(580-582)GAA>AAA	p.E194K	MORF4L1_uc010blj.1_Missense_Mutation_p.E128K|MORF4L1_uc002bem.2_Missense_Mutation_p.E155K|MORF4L1_uc010une.1_Missense_Mutation_p.E67K	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	194	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.|Interaction with RB1-1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						GAACAGAGTTGAAGTTAAAGT	0.388		NaN											0	0	0	0.004656	0	18	28				
ZFAND6	54469	broad.mit.edu	37	15	80423554	80423554	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:80423554G>A	uc002bfe.1	+	6	708	c.397G>A	c.(397-399)GAA>AAA	p.E133K	ZFAND6_uc002bff.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfg.1_Missense_Mutation_p.E121K|ZFAND6_uc002bfh.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfi.1_Missense_Mutation_p.E133K	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	133							DNA binding|zinc ion binding				0						GCAGCCATCTGAAGAGCAAAG	0.388		NaN											0	0	0	0.008871	0	17	93				
AKAP13	11214	broad.mit.edu	37	15	86284652	86284652	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:86284652G>C	uc002blv.1	+	35	8154	c.7984G>C	c.(7984-7986)GAG>CAG	p.E2662Q	AKAP13_uc002blu.1_Missense_Mutation_p.E2666Q|AKAP13_uc002blw.1_Missense_Mutation_p.E1127Q|AKAP13_uc002blx.1_Missense_Mutation_p.E907Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2662	Interaction with ESR1.|Potential.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GAAACAGCTTGAGAGGGAACA	0.627		NaN											0	0	0	0.010504	0	14	24				
FANCI	55215	broad.mit.edu	37	15	89834929	89834929	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:89834929C>G	uc010bnp.1	+	20	2066	c.1976C>G	c.(1975-1977)TCT>TGT	p.S659C	FANCI_uc002bnm.1_Missense_Mutation_p.S659C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S480C|FANCI_uc002bnq.1_Missense_Mutation_p.S72C	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	659					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATAAGATCTCTCTACAAGAA	0.378		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.003271	0	27	55				
FANCI	55215	broad.mit.edu	37	15	89850893	89850893	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:89850893C>G	uc010bnp.1	+	34	3731	c.3641C>G	c.(3640-3642)TCT>TGT	p.S1214C	FANCI_uc002bnm.1_Missense_Mutation_p.S1154C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S974C|FANCI_uc002bnq.1_Missense_Mutation_p.S627C	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1214					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTTTCATTTCTTACGTACAG	0.443		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.007291	0	23	73				
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:99459287G>C	uc002bul.2	+	9	1973	c.1923G>C	c.(1921-1923)CTG>CTC	p.L641L	IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	641	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACGGCAACCTGAGTTACTACA	0.557		NaN											0	0	0	0.01441	0	45	51				
LINS1	55180	broad.mit.edu	37	15	101109548	101109548	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:101109548G>C	uc002bwe.2	-	8	2460	c.2169C>G	c.(2167-2169)ATC>ATG	p.I723M	LINS1_uc002bwd.2_Missense_Mutation_p.I310M|LINS1_uc002bwf.2_Missense_Mutation_p.I723M|LINS1_uc002bwg.2_Missense_Mutation_p.I723M|LINS1_uc002bwh.2_Missense_Mutation_p.I723M	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	723											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GCAAACGGCAGATGGCATCTT	0.353		NaN											0	0	0	0.010771	0	37	70				
TFAP4	7023	broad.mit.edu	37	16	4310208	4310208	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:4310208C>T	uc010uxg.1	-	6	959	c.705G>A	c.(703-705)GTG>GTA	p.V235V		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	235	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CTGGCACGATCACCGTGGGGT	0.617		NaN											0	0	0	0.00245	0	11	20				
MGRN1	23295	broad.mit.edu	37	16	4721438	4721438	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:4721438A>T	uc002cwz.2	+	9	909	c.773A>T	c.(772-774)AAC>ATC	p.N258I	MGRN1_uc002cxa.2_Missense_Mutation_p.N258I|MGRN1_uc010btx.2_Missense_Mutation_p.N259I|MGRN1_uc010btw.2_Missense_Mutation_p.N259I|MGRN1_uc002cxb.2_Missense_Mutation_p.N258I|MGRN1_uc010uxo.1_Missense_Mutation_p.N258I|MGRN1_uc010uxp.1_Missense_Mutation_p.N258I|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	258					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GGCATTGAGAACAAGAACAAC	0.587		NaN											0	0	0	0.012319	0	17	35				
GRIN2A	2903	broad.mit.edu	37	16	9858060	9858060	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:9858060C>G	uc002czo.3	-	13	3889	c.3341G>C	c.(3340-3342)AGA>ACA	p.R1114T	GRIN2A_uc010uym.1_Missense_Mutation_p.R1114T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R957T|GRIN2A_uc002czr.3_Missense_Mutation_p.R1114T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1114	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCTTGTCTCTAGGGGAGCT	0.483		NaN											0	0	0	0.007835	0	31	158				
GRIN2A	2903	broad.mit.edu	37	16	9916214	9916214	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:9916214C>G	uc002czo.3	-	10	2623	c.2075G>C	c.(2074-2076)AGA>ACA	p.R692T	GRIN2A_uc010uym.1_Missense_Mutation_p.R692T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R535T|GRIN2A_uc002czr.3_Missense_Mutation_p.R692T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	692	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGAATGTTTCTCTCCGTGCT	0.388		NaN											0	0	0	0.003271	0	27	101				
CIITA	4261	broad.mit.edu	37	16	10996617	10996617	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:10996617C>G	uc002dai.3	+	8	864	c.731C>G	c.(730-732)TCT>TGT	p.S244C	CIITA_uc002daj.3_Missense_Mutation_p.S245C|CIITA_uc002dak.3_Missense_Mutation_p.S195C|CIITA_uc002dag.2_Missense_Mutation_p.S244C|CIITA_uc002dah.2_Missense_Mutation_p.S196C|CIITA_uc010bup.1_Missense_Mutation_p.S244C	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	244					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TGGCAAATCTCTGAGGCTGGA	0.592		NaN	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								0	0	0	0.008361	0	25	46				
ABCC6	368	broad.mit.edu	37	16	16297332	16297332	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:16297332G>A	uc002den.3	-	8	970	c.933C>T	c.(931-933)TTC>TTT	p.F311F	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.F323F	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	311	ABC transmembrane type-1 1.|Helical; Name=6; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCCAGGAGGAAGGTAGAAT	0.592		NaN											0	0	0	0.004007	0	13	49				
ACSM3	6296	broad.mit.edu	37	16	20787320	20787320	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:20787320C>T	uc002dhr.2	+	3	566	c.379C>T	c.(379-381)CTG>TTG	p.L127L	ACSM3_uc002dhq.2_Silent_p.L127L|ACSM3_uc010vba.1_Silent_p.L119L	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	127					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AATTCTGATTCTGCCCAGGGT	0.463		NaN											0	0	0	0.004656	0	19	79				
TNRC6A	27327	broad.mit.edu	37	16	24802435	24802435	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:24802435G>C	uc002dmm.2	+	6	2586	c.2472G>C	c.(2470-2472)GAG>GAC	p.E824D	TNRC6A_uc010bxs.2_Missense_Mutation_p.E571D|TNRC6A_uc010vcc.1_Missense_Mutation_p.E571D|TNRC6A_uc002dmn.2_Missense_Mutation_p.E571D|TNRC6A_uc002dmo.2_Missense_Mutation_p.E571D	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	824	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ATTGCAAAGAGGAGAAGGCTG	0.507		NaN											0	0	0	0.003163	0	15	20				
IL21R	50615	broad.mit.edu	37	16	27456588	27456588	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:27456588C>T	uc002doq.1	+	7	1009	c.776C>T	c.(775-777)CCA>CTA	p.P259L	IL21R_uc002dor.1_Missense_Mutation_p.P259L|IL21R_uc002dos.1_Missense_Mutation_p.P259L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	259	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						AAGACCCATCCATTGTGGAGG	0.552		NaN	T	BCL6	NHL								0	0	0	0.00499	0	12	13				
KCTD13	253980	broad.mit.edu	37	16	29918391	29918391	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:29918391C>T	uc002duv.2	-	6	983	c.792G>A	c.(790-792)CTG>CTA	p.L264L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	264					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						TGAGGATGTTCAGGGTCTCCT	0.672		NaN											0	0	0	0.01441	0	85	33				
MAPK3	5595	broad.mit.edu	37	16	30134479	30134479	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30134479C>G	uc002dws.2	-	1	152	c.52G>C	c.(52-54)GAG>CAG	p.E18Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Missense_Mutation_p.E18Q|MAPK3_uc002dwt.2_Missense_Mutation_p.E18Q|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	18					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CCGACCCCCTCGGTTCTACGG	0.408		NaN											0	0	0	0.00278	0	20	7				
ZNF689	115509	broad.mit.edu	37	16	30616102	30616102	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30616102G>T	uc002dyx.2	-	3	1306	c.986C>A	c.(985-987)TCC>TAC	p.S329Y	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	329	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CAGGCGAGAGGAGGAGGAGAA	0.701		NaN											1	0	1.58986e-06	0.008291	1.65149e-06	6	49				
RNF40	9810	broad.mit.edu	37	16	30780218	30780218	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30780218G>C	uc002dzq.2	+	15	2280	c.2157G>C	c.(2155-2157)AAG>AAC	p.K719N	RNF40_uc010caa.2_Missense_Mutation_p.K719N|RNF40_uc010cab.2_Missense_Mutation_p.K619N|RNF40_uc010vfa.1_Missense_Mutation_p.K51N|RNF40_uc002dzr.2_Missense_Mutation_p.K719N|RNF40_uc010vfb.1_Missense_Mutation_p.K411N|RNF40_uc010vfc.1_Missense_Mutation_p.K51N	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	719	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GGGAGAGCAAGAAGATCGCGG	0.592		NaN											0	0	0	0.01441	0	122	60				
TRIM72	493829	broad.mit.edu	37	16	31226097	31226097	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:31226097C>G	uc002ebn.1	+	2	267	c.38C>G	c.(37-39)TCC>TGC	p.S13C		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	13					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						CAGGAGCTGTCCTGCCCGCTG	0.756		NaN											0	0	0	0.013537	0	8	15				
GPR56	9289	broad.mit.edu	37	16	57693505	57693505	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693505C>G	uc002emb.2	+	12	1777	c.1485C>G	c.(1483-1485)CTC>CTG	p.L495L	GPR56_uc002elz.1_Silent_p.L325L|GPR56_uc002ema.1_Silent_p.L320L|GPR56_uc002emc.2_Silent_p.L489L|GPR56_uc002emf.2_Silent_p.L489L|GPR56_uc010vhs.1_Silent_p.L495L|GPR56_uc002emd.2_Silent_p.L489L|GPR56_uc002eme.2_Silent_p.L489L|GPR56_uc010vht.1_Silent_p.L494L|GPR56_uc002emg.3_Silent_p.L489L|GPR56_uc010vhu.1_Silent_p.L314L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	495	Helical; Name=3; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						GGATGGGCCTCGAGGGGTACA	0.622		NaN											0	0	0	0.00623	0	27	75				
GPR56	9289	broad.mit.edu	37	16	57693541	57693541	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693541C>G	uc002emb.2	+	12	1813	c.1521C>G	c.(1519-1521)GTC>GTG	p.V507V	GPR56_uc002elz.1_Silent_p.V337V|GPR56_uc002ema.1_Silent_p.V332V|GPR56_uc002emc.2_Silent_p.V501V|GPR56_uc002emf.2_Silent_p.V501V|GPR56_uc010vhs.1_Silent_p.V507V|GPR56_uc002emd.2_Silent_p.V501V|GPR56_uc002eme.2_Silent_p.V501V|GPR56_uc010vht.1_Silent_p.V506V|GPR56_uc002emg.3_Silent_p.V501V|GPR56_uc010vhu.1_Silent_p.V326V	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	507	Cytoplasmic (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TGGTGGAGGTCTTTGGCACCT	0.627		NaN											0	0	0	0.006999	0	19	87				
GPR56	9289	broad.mit.edu	37	16	57693571	57693571	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693571C>G	uc002emb.2	+	12	1843	c.1551C>G	c.(1549-1551)CTC>CTG	p.L517L	GPR56_uc002elz.1_Silent_p.L347L|GPR56_uc002ema.1_Silent_p.L342L|GPR56_uc002emc.2_Silent_p.L511L|GPR56_uc002emf.2_Silent_p.L511L|GPR56_uc010vhs.1_Silent_p.L517L|GPR56_uc002emd.2_Silent_p.L511L|GPR56_uc002eme.2_Silent_p.L511L|GPR56_uc010vht.1_Silent_p.L516L|GPR56_uc002emg.3_Silent_p.L511L|GPR56_uc010vhu.1_Silent_p.L336L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	517	Cytoplasmic (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						GCTACCTACTCAAGCTGAGCG	0.622		NaN											0	0	0	0.00632	0	14	83				
CDH1	999	broad.mit.edu	37	16	68844139	68844139	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:68844139G>C	uc002ewg.1	+	6	851	c.727G>C	c.(727-729)GAG>CAG	p.E243Q	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E243Q	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	243	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.E243*(2)|p.?(2)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGCAGTTGAGGATCCAAT	0.493		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.01441	0	63	89				
CDH1	999	broad.mit.edu	37	16	68845691	68845691	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:68845691G>A	uc002ewg.1	+	7	1061	c.937G>A	c.(937-939)GAC>AAC	p.D313N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D313N	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	313	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAGCTCCCTGACAAAAATAT	0.542		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.004656	0	23	37				
GLG1	2734	broad.mit.edu	37	16	74493622	74493622	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:74493622G>C	uc002fcy.3	-	23	3152	c.3102C>G	c.(3100-3102)CTC>CTG	p.L1034L	GLG1_uc002fcx.2_Silent_p.L1034L|GLG1_uc002fcw.3_Silent_p.L1023L|GLG1_uc002fcz.3_Silent_p.L451L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1034	Extracellular (Potential).|Cys-rich GLG1 15.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GGTTGACCTTGAGGCACTCCT	0.438		NaN											0	0	0	0.004007	0	12	22				
JPH3	57338	broad.mit.edu	37	16	87677915	87677915	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:87677915G>A	uc002fkd.2	+	2	688	c.434G>A	c.(433-435)CGG>CAG	p.R145Q	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	145	MORN 6.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TACGGCGTCCGGCAGAGCGTC	0.677		NaN											0	0	0	0.01441	0	39	38				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:90126823T>G	uc010cje.2	-	9	1179	c.1159A>C	c.(1159-1161)ATG>CTG	p.M387L	PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	387						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522		NaN											0	0	0	0.004672	0	3	80				
ZNF232	7775	broad.mit.edu	37	17	5009120	5009120	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009120C>G	uc002gas.2	-	5	2007	c.1253G>C	c.(1252-1254)TGA>TCA	p.*418S	ZNF232_uc002gar.1_Nonstop_Mutation_p.*436S|ZNF232_uc002gat.2_Nonstop_Mutation_p.*445S	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	418					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CCCTTCAATTCAATGGGAAGG	0.403		NaN											0	0	0	0.010771	0	36	22				
ZNF232	7775	broad.mit.edu	37	17	5009220	5009220	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009220C>G	uc002gas.2	-	5	1907	c.1153G>C	c.(1153-1155)GAG>CAG	p.E385Q	ZNF232_uc002gar.1_Missense_Mutation_p.E403Q|ZNF232_uc002gat.2_Missense_Mutation_p.E412Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	385					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AAAGGTTTCTCTCCACTGTGA	0.443		NaN											0	0	0	0.009535	0	25	20				
ZNF232	7775	broad.mit.edu	37	17	5009367	5009367	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009367C>G	uc002gas.2	-	5	1760	c.1006G>C	c.(1006-1008)GAA>CAA	p.E336Q	ZNF232_uc002gar.1_Missense_Mutation_p.E354Q|ZNF232_uc002gat.2_Missense_Mutation_p.E363Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	336	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TTCCCACATTCATTACATTCG	0.463		NaN											0	0	0	0.010504	0	19	26				
ZNF232	7775	broad.mit.edu	37	17	5009634	5009634	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009634C>T	uc002gas.2	-	5	1493	c.739G>A	c.(739-741)GAG>AAG	p.E247K	ZNF232_uc002gar.1_Missense_Mutation_p.E265K|ZNF232_uc002gat.2_Missense_Mutation_p.E274K	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	247					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CTCAGTCTCTCCGCTTTGGGA	0.478		NaN											0	0	0	0.013114	0	38	28				
RPAIN	84268	broad.mit.edu	37	17	5324736	5324736	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5324736G>A	uc002gbq.2	+	2	772	c.202G>A	c.(202-204)GAG>AAG	p.E68K	NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.E68K|RPAIN_uc002gbp.1_Missense_Mutation_p.R121K|RPAIN_uc010vta.1_Missense_Mutation_p.E68K|RPAIN_uc010vtb.1_Missense_Mutation_p.E68K|RPAIN_uc002gbs.2_Missense_Mutation_p.R121K|RPAIN_uc002gbt.2_Missense_Mutation_p.E68K|RPAIN_uc002gbu.2_Missense_Mutation_p.R121K|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.E68K	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	68					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						GATGGAAGAAGAGTGGAATGC	0.532		NaN											0	0	0	0.007835	0	31	21				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:7577099C>T	uc002gim.2	-	8	1033	c.839G>A	c.(838-840)AGA>AAA	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.001855	0	12	9		Valid		
DNAH2	146754	broad.mit.edu	37	17	7643069	7643069	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:7643069C>T	uc002giu.1	+	8	1203	c.1189C>T	c.(1189-1191)CAC>TAC	p.H397Y	DNAH2_uc002git.2_Missense_Mutation_p.H479Y|DNAH2_uc010vuk.1_Missense_Mutation_p.H397Y	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	397	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCAGTATCACTTCGCCCG	0.488		NaN											0	0	0	0.008291	0	10	5				
KRBA2	124751	broad.mit.edu	37	17	8272483	8272483	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:8272483G>C	uc002glf.1	-	2	1454	c.1448C>G	c.(1447-1449)TCA>TGA	p.S483*	KRBA2_uc002glg.1_Nonsense_Mutation_p.S400*	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	483					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						AGTCCCTTGTGAGGTGCTGGG	0.527		NaN											0	0	0	0.010504	0	17	15				
MYH10	4628	broad.mit.edu	37	17	8422065	8422065	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:8422065C>G	uc002gll.2	-	19	2391	c.2295G>C	c.(2293-2295)CAG>CAC	p.Q765H	MYH10_uc002glm.2_Missense_Mutation_p.Q796H|MYH10_uc010cnx.2_Missense_Mutation_p.Q774H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	765	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATATCTTGCTCTGTCCAATTC	0.358		NaN											0	0	0	0.009535	0	22	21				
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:10543493G>T	uc002gmq.1	-	21	2579	c.2502C>A	c.(2500-2502)TTC>TTA	p.F834L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	834					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGATCTTGAAGAAGAGTTTCA	0.458		NaN											1	0	2.85442e-18	0.010818	3.0971e-18	29	31				
MPRIP	23164	broad.mit.edu	37	17	17083324	17083324	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:17083324G>A	uc002gqu.1	+	22	3023	c.2967G>A	c.(2965-2967)ATG>ATA	p.M989I	MPRIP_uc002gqv.1_Missense_Mutation_p.M989I|MPRIP_uc002gqw.1_Missense_Mutation_p.M744I|MPRIP_uc002gqx.1_Missense_Mutation_p.M1218I|MPRIP_uc002gqy.1_Missense_Mutation_p.M1218I|MPRIP_uc010cpl.1_Missense_Mutation_p.M175I|MPRIP_uc010cpm.1_Missense_Mutation_p.M175I	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	989						cytoplasm|cytoskeleton	actin binding				0						CAGATATAATGAAATCTAAAA	0.443		NaN											0	0	0	0.010504	0	18	13				
PROCA1	147011	broad.mit.edu	37	17	27030629	27030629	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:27030629T>C	uc002hcb.3	-	5	1167	c.964A>G	c.(964-966)AGG>GGG	p.R322G	PROCA1_uc010crv.2_Missense_Mutation_p.R248G|PROCA1_uc002hca.1_Missense_Mutation_p.R320G	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	348					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					TTTACCTTCCTGGCTTGTGAG	0.532		NaN											0	0	0	0.01441	0	58	101				
ATAD5	79915	broad.mit.edu	37	17	29196272	29196272	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:29196272C>T	uc002hfs.1	+	13	3666	c.3320C>T	c.(3319-3321)TCG>TTG	p.S1107L	ATAD5_uc002hft.1_Missense_Mutation_p.S1004L	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1107					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCAGATTTCTCGGGTGGCATA	0.393		NaN											0	0	0	0.005443	0	21	39				
LRRC37B	114659	broad.mit.edu	37	17	30348940	30348940	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:30348940C>G	uc002hgu.2	+	1	786	c.775C>G	c.(775-777)CAA>GAA	p.Q259E	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q177E|LRRC37B_uc010csu.2_Missense_Mutation_p.Q259E	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	259	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGGACTTTCTCAATTCCATCT	0.527		NaN											0	0	0	0.01441	0	57	118				
CCL1	6346	broad.mit.edu	37	17	32688819	32688819	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:32688819G>A	uc002hid.1	-	2	245	c.173C>T	c.(172-174)TCC>TTC	p.S58F		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor	58					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCTCATTGGAGCAGATGGA	0.483		NaN									OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	82	182				
MYO19	80179	broad.mit.edu	37	17	34856680	34856680	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:34856680G>A	uc010wcy.1	-	24	3359	c.2367C>T	c.(2365-2367)CTC>CTT	p.L789L	MYO19_uc002hmw.2_Silent_p.L589L|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	789	IQ 2.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCCTGGATGAGCATGACGG	0.647		NaN											0	0	0	0.009096	0	3	22				
MRM1	79922	broad.mit.edu	37	17	34958561	34958561	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:34958561G>A	uc002hne.2	+	1	537	c.322G>A	c.(322-324)GAC>AAC	p.D108N	MRM1_uc002hnf.2_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	108					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCAGAAACTGGACACAATGTG	0.697		NaN											0	0	0	0.005443	0	22	29				
TADA2A	6871	broad.mit.edu	37	17	35804849	35804849	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:35804849G>A	uc002hnt.2	+	8	740	c.583G>A	c.(583-585)GAT>AAT	p.D195N	TADA2A_uc002hnu.1_Missense_Mutation_p.D195N|TADA2A_uc002hnv.2_Missense_Mutation_p.D195N|TADA2A_uc010wdd.1_Missense_Mutation_p.D195N|TADA2A_uc002hnw.2_Missense_Mutation_p.D94N|TADA2A_uc010cvb.2_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	195					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TTTTGTTGAAGATGACTCGGA	0.264		NaN											0	0	0	0.01441	0	83	170				
SMARCE1	6605	broad.mit.edu	37	17	38787930	38787930	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:38787930C>G	uc002hux.2	-	9	854	c.730G>C	c.(730-732)GAA>CAA	p.E244Q	SMARCE1_uc010wff.1_Missense_Mutation_p.E209Q|SMARCE1_uc010wfg.1_Missense_Mutation_p.E174Q|SMARCE1_uc002huy.2_Missense_Mutation_p.E209Q|SMARCE1_uc010wfh.1_Missense_Mutation_p.E174Q|SMARCE1_uc010wfi.1_Missense_Mutation_p.E226Q	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	244	Potential.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TGAAGAAGTTCAGCTTCTAGT	0.353		NaN											0	0	0	0.00333	0	20	38				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:39274087G>C	uc002hvz.2	-	1	520	c.481C>G	c.(481-483)CTG>GTG	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.323		NaN											0	0	0	0.009096	0	3	17				
KCNH4	23415	broad.mit.edu	37	17	40317544	40317544	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40317544G>A	uc002hzb.2	-	11	2341	c.2008C>T	c.(2008-2010)CCT>TCT	p.P670S		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	670	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCATACTCAGGATAGAGCCTC	0.607		NaN											0	0	0	0.008291	0	11	41				
KCNH4	23415	broad.mit.edu	37	17	40317638	40317638	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40317638G>A	uc002hzb.2	-	11	2247	c.1914C>T	c.(1912-1914)TTC>TTT	p.F638F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	638	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTTAGCACGAAGTTTGGGT	0.592		NaN											0	0	0	0.008361	0	23	38				
KCNH4	23415	broad.mit.edu	37	17	40321612	40321612	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40321612G>A	uc002hzb.2	-	9	1806	c.1473C>T	c.(1471-1473)CGC>CGT	p.R491R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	491	Helical; Name=Segment S6; (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTCCTTCATGCGGCTGTGGT	0.637		NaN											0	0	0	0.005443	0	24	57				
TUBG2	27175	broad.mit.edu	37	17	40818450	40818450	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40818450C>T	uc010wgr.1	+	10	1362	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L	TUBG2_uc002iaq.2_Missense_Mutation_p.S211L|TUBG2_uc002iar.2_Missense_Mutation_p.S216L|TUBG2_uc002ias.2_Missense_Mutation_p.S211L|TUBG2_uc002iap.2_Missense_Mutation_p.S216L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	369					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TACCTGCCCTCGGCCCACCGG	0.607		NaN											0	0	0	0.01441	0	39	66				
MYCBPAP	84073	broad.mit.edu	37	17	48599420	48599420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:48599420G>A	uc010wmr.1	+	10	1526	c.1364G>A	c.(1363-1365)AGA>AAA	p.R455K	MYCBPAP_uc002iqx.2_Missense_Mutation_p.R455K|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	418					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGCTGGATCAGAGGCAGTAAT	0.562		NaN											0	0	0	0.00623	0	33	23				
KIAA0195	9772	broad.mit.edu	37	17	73488566	73488566	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:73488566G>C	uc002jnz.3	+	15	1883	c.1608G>C	c.(1606-1608)GGG>GGC	p.G536G	KIAA0195_uc010wsa.1_Silent_p.G546G|KIAA0195_uc010wsb.1_Silent_p.G176G	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	536					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGCCTGGGATGGAGAGCG	0.632		NaN											0	0	0	0.00308	0	5	37				
SEC14L1	6397	broad.mit.edu	37	17	75196652	75196652	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:75196652G>C	uc002jto.2	+	9	1173	c.906G>C	c.(904-906)TTG>TTC	p.L302F	SEC14L1_uc010dhc.2_Missense_Mutation_p.L302F|SEC14L1_uc010wth.1_Missense_Mutation_p.L302F|SEC14L1_uc002jtm.2_Missense_Mutation_p.L302F|SEC14L1_uc010wti.1_Missense_Mutation_p.L268F	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	302					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GTCAGTCTTTGACGTGGAGAA	0.458		NaN											0	0	0	0.01441	0	58	37				
TXNDC2	84203	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:9887461A>C	uc002koi.3	+	2	1434	c.985A>C	c.(985-987)ATC>CTC	p.I329L	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.I262L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	329	15.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						GGAGGGTGACATCCCCAAGTC	0.592		NaN											0	0	0	0.001168	0	4	143				
B4GALT6	9331	broad.mit.edu	37	18	29218639	29218639	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:29218639G>A	uc002kwz.3	-	5	853	c.556C>T	c.(556-558)CGG>TGG	p.R186W	B4GALT6_uc010dma.2_Missense_Mutation_p.R147W|B4GALT6_uc010dmb.2_Intron	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	186	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AATTCCAGCCGCTGCTTCTGG	0.358		NaN											0	0	0	0.000602	0	3	86				
RIT2	6014	broad.mit.edu	37	18	40323592	40323592	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:40323592A>T	uc002lav.2	-	5	693	c.520T>A	c.(520-522)TTT>ATT	p.F174I	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	174					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						AAGCCATGAAAAGCATCATCA	0.428		NaN											0	0	0	0.010504	0	20	33				
ZBTB7C	201501	broad.mit.edu	37	18	45567023	45567023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:45567023C>G	uc002lda.2	-	1	472	c.456G>C	c.(454-456)GAG>GAC	p.E152D	ZBTB7C_uc002ldb.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E161D|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E174D|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dny.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dob.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doc.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dod.1_Missense_Mutation_p.E174D|ZBTB7C_uc010doe.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dof.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dog.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doh.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doi.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doj.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dok.1_Missense_Mutation_p.E201D|ZBTB7C_uc010dol.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doa.1_Missense_Mutation_p.E174D|ZBTB7C_uc010don.1_Missense_Mutation_p.E160D|ZBTB7C_uc010doo.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dop.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doq.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dor.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dos.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dot.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dou.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dom.1_Missense_Mutation_p.E161D	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	152	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						cctcttcgtcctcctcatcat	0.284		NaN											0	0	0	0.000602	0	5	17				
ALPK2	115701	broad.mit.edu	37	18	56203518	56203518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:56203518C>G	uc002lhj.3	-	5	4115	c.3901G>C	c.(3901-3903)GAG>CAG	p.E1301Q	ALPK2_uc002lhk.1_Missense_Mutation_p.E632Q	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1301							ATP binding|protein serine/threonine kinase activity	p.H1301H(1)		ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TCAGCATCCTCTGGACTGTGA	0.507		NaN											0	0	0	0.009535	0	23	50				
ZNF532	55205	broad.mit.edu	37	18	56587297	56587297	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:56587297C>T	uc002lho.2	+	4	2325	c.1778C>T	c.(1777-1779)CCA>CTA	p.P593L	ZNF532_uc002lhp.2_Missense_Mutation_p.P591L|ZNF532_uc010xeg.1_Missense_Mutation_p.P591L|ZNF532_uc002lhr.2_Missense_Mutation_p.P591L|ZNF532_uc002lhs.2_Missense_Mutation_p.P591L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGTGTCAATCCAGTCCCTGTT	0.557		NaN											0	0	0	0.008291	0	10	26				
CCBE1	147372	broad.mit.edu	37	18	57363928	57363928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:57363928C>A	uc002lib.2	-	2	215	c.145G>T	c.(145-147)GAG>TAG	p.E49*		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	49					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)				ATTTTGCTCTCTGAGCAGATT	0.587		NaN									OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.32078e-09	0.003163	2.46325e-09	10	54				
NFATC1	4772	broad.mit.edu	37	18	77246380	77246380	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:77246380C>G	uc010xfg.1	+	9	2678	c.2225C>G	c.(2224-2226)TCC>TGC	p.S742C	NFATC1_uc002lnd.2_Missense_Mutation_p.S742C|NFATC1_uc002lne.2_Missense_Mutation_p.S270C|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.S270C|NFATC1_uc002lnf.2_Missense_Mutation_p.S729C|NFATC1_uc002lng.2_Missense_Mutation_p.S729C|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	742	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GACCCCAGCTCCTGCCTCGTG	0.662		NaN											0	0	0	0.01441	0	57	129				
MKNK2	2872	broad.mit.edu	37	19	2042510	2042510	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:2042510C>T	uc002lus.2	-	10	911	c.666G>A	c.(664-666)GTG>GTA	p.V222V	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Silent_p.V61V|MKNK2_uc010xgv.1_Silent_p.V91V|MKNK2_uc002lur.2_Silent_p.V222V|MKNK2_uc002lut.1_5'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	222	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGATCTTCACGGGGGAGA	0.692		NaN											0	0	0	0.001168	0	3	3				
ZNF77	58492	broad.mit.edu	37	19	2933592	2933592	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:2933592C>G	uc002lws.3	-	4	1664	c.1533G>C	c.(1531-1533)GTG>GTC	p.V511V		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	511	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCGTTCTCACGTGCACAC	0.493		NaN											0	0	0	0.009718	0	37	74				
C19orf29	58509	broad.mit.edu	37	19	3620192	3620192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:3620192C>A	uc002lyh.2	-	4	870	c.817G>T	c.(817-819)GAG>TAG	p.E273*	C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Nonsense_Mutation_p.E121*|C19orf29_uc002lyi.3_Nonsense_Mutation_p.E273*|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	273	Potential.					catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCTGCCTCCTTCTCGCGC	0.672		NaN											1	0	1.58986e-06	0.008291	1.65149e-06	7	20				
UHRF1	29128	broad.mit.edu	37	19	4910993	4910993	+	Silent	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:4910993C>A	uc002mbo.2	+	2	264	c.96C>A	c.(94-96)ATC>ATA	p.I32I	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.I45I	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	32	Ubiquitin-like.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGCGGAAGATCCAGGAGCTGT	0.622		NaN									OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.28615e-30	0.01441	3.62424e-30	55	78				
UHRF1	29128	broad.mit.edu	37	19	4911005	4911005	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:4911005C>T	uc002mbo.2	+	2	276	c.108C>T	c.(106-108)TTC>TTT	p.F36F	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.F49F	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	36	Ubiquitin-like.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGGAGCTGTTCCACGTGGAGC	0.637		NaN									OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	56	74				
CRB3	92359	broad.mit.edu	37	19	6466563	6466563	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:6466563G>A	uc002mey.2	+	4	774	c.243G>A	c.(241-243)CGG>CGA	p.R81R	CRB3_uc002mez.2_Silent_p.R81R|CRB3_uc002mfa.2_Silent_p.R81R	NM_139161	NP_631900	Q9BUF7	CRUM3_HUMAN	crumbs 3 isoform a precursor	81	Cytoplasmic (Potential).				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding				0						TGTTGGTGCGGAAGCTTCGGG	0.652		NaN											0	0	0	0.01441	0	83	98				
MYO1F	4542	broad.mit.edu	37	19	8615474	8615474	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:8615474C>T	uc002mkg.2	-	9	990	c.876G>A	c.(874-876)GGG>GGA	p.G292G	MYO1F_uc002mkh.2_Silent_p.G292G	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	292	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GGGCGTAATTCCCGTCTTCAC	0.607		NaN											0	0	0	0.011902	0	34	75				
KEAP1	9817	broad.mit.edu	37	19	10602630	10602630	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:10602630C>T	uc002moq.1	-	3	1104	c.948G>A	c.(946-948)GTG>GTA	p.V316V	KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGCAGGGCATCACCTGCGTGG	0.637		NaN											0	0	0	0.004007	0	14	22				
KEAP1	9817	broad.mit.edu	37	19	10602848	10602848	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:10602848C>T	uc002moq.1	-	3	886	c.730G>A	c.(730-732)GAG>AAG	p.E244K	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E244K	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	244	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGAAGACCTCGGACTCGCAG	0.627		NaN											0	0	0	0.00499	0	16	48				
CCDC151	115948	broad.mit.edu	37	19	11545659	11545659	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:11545659C>G	uc002mrs.2	-	1	322	c.179G>C	c.(178-180)AGA>ACA	p.R60T	CCDC151_uc010dxz.2_Missense_Mutation_p.R60T|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	60										ovary(1)	1						CCCTGCACCTCTGTGGAAGGA	0.597		NaN									OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00278	0	21	58				
ZNF441	126068	broad.mit.edu	37	19	11891595	11891595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:11891595C>T	uc010dyj.2	+	4	1150	c.956C>T	c.(955-957)TCT>TTT	p.S319F	ZNF441_uc002msn.3_Missense_Mutation_p.S275F	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	319	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCTTTCTTTCTCCCAGTTCA	0.403		NaN											0	0	0	0.007291	0	29	48				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:12187443C>G	uc002mtb.2	+	4	1651	c.1508C>G	c.(1507-1509)CCT>CGT	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGAGAAACCCTATGAGTGTA	0.413		NaN											0	0	0	0.000602	0	3	65				
WDR83	84292	broad.mit.edu	37	19	12786441	12786441	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:12786441G>T	uc002mue.3	+	11	1238	c.903G>T	c.(901-903)CAG>CAT	p.Q301H	WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Missense_Mutation_p.Q301H	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN	mitogen-activated protein kinase organizer 1	301	WD 7.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				lung(1)|breast(1)	2						GCAGCGTCCAGTGCTGGCGAG	0.647		NaN									OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	5.4927e-09	0.004482	5.78406e-09	7	14				
OR10H2	26538	broad.mit.edu	37	19	15839103	15839103	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:15839103G>A	uc002nbm.2	+	1	270	c.250G>A	c.(250-252)GAC>AAC	p.D84N		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGCTGGCCGACCTGCTGTC	0.622		NaN											0	0	0	0.00499	0	3	45				
C19orf42	79086	broad.mit.edu	37	19	16770802	16770802	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:16770802C>T	uc002ner.2	-	2	83	c.36G>A	c.(34-36)CTG>CTA	p.L12L	TMEM38A_uc002nes.2_5'Flank|C19orf42_uc002neo.1_RNA|C19orf42_uc002nep.1_RNA	NM_024104	NP_077009	Q9BQ49	CS042_HUMAN	hypothetical protein LOC79086 precursor	12						integral to membrane					0						CGGCATTCATCAGCAACGTCC	0.617		NaN											0	0	0	0.006214	0	7	26				
UPF1	5976	broad.mit.edu	37	19	18943112	18943112	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:18943112G>C	uc002nkg.2	+	1	369	c.94G>C	c.(94-96)GAG>CAG	p.E32Q	UPF1_uc002nkf.2_Missense_Mutation_p.E32Q	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	32	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACAGGGCTCCGAGTTCGAGTT	0.443		NaN											0	0	0	0.00874	0	30	35				
ZNF737	100129842	broad.mit.edu	37	19	20727954	20727954	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:20727954T>C	uc002npa.2	-	4	1235	c.1055A>G	c.(1054-1056)TAC>TGC	p.Y352C		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	352					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GGATGAGAAGTACTTAAAGGC	0.418		NaN											0	0	0	0.010504	0	20	36				
ZNF492	57615	broad.mit.edu	37	19	22847709	22847709	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:22847709T>A	uc002nqw.3	+	4	1482	c.1238T>A	c.(1237-1239)ATA>AAA	p.I413K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	413	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGATAATTCATACT	0.368		NaN											0	0	0	0.00623	0	31	56				
ZNF492	57615	broad.mit.edu	37	19	22847715	22847715	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:22847715A>G	uc002nqw.3	+	4	1488	c.1244A>G	c.(1243-1245)CAT>CGT	p.H415R		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	415	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAGATAATTCATACTGGAGAG	0.378		NaN											0	0	0	0.003755	0	27	54				
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544724T>C	uc002nre.2	-	4	1170	c.1057A>G	c.(1057-1059)AAA>GAA	p.K353E	ZNF91_uc010xrj.1_Missense_Mutation_p.K321E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	353	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373		NaN											0	0	0	0.000602	0	3	99				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544783C>T	uc002nre.2	-	4	1111	c.998G>A	c.(997-999)CGT>CAT	p.R333H	ZNF91_uc010xrj.1_Missense_Mutation_p.R301H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	333	C2H2-type 7.			R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393		NaN											0	0	0	0.00308	0	6	151				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544867T>C	uc002nre.2	-	4	1027	c.914A>G	c.(913-915)CAT>CGT	p.H305R	ZNF91_uc010xrj.1_Missense_Mutation_p.H273R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	305	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413		NaN											0	0	0	0.006214	0	9	158				
PLEKHG2	64857	broad.mit.edu	37	19	39909624	39909624	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:39909624C>G	uc010xuz.1	+	11	1569	c.1244C>G	c.(1243-1245)CCT>CGT	p.P415R	PLEKHG2_uc010xuy.1_Missense_Mutation_p.P356R|PLEKHG2_uc002olj.2_Missense_Mutation_p.P415R|PLEKHG2_uc010xva.1_Missense_Mutation_p.P222R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	415					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAACCACCCTGCCTCCATC	0.602		NaN											0	0	0	0.00245	0	13	82				
MAP3K10	4294	broad.mit.edu	37	19	40710537	40710537	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:40710537G>A	uc002ona.2	+	3	1297	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	337	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						CCGCCTCCTGGAGGGTGAGCC	0.652		NaN											0	0	0	0.003163	0	11	22				
HIPK4	147746	broad.mit.edu	37	19	40886736	40886736	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:40886736C>A	uc002onp.2	-	3	1447	c.1162G>T	c.(1162-1164)GAT>TAT	p.D388Y		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	388						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGGGTCCCATCTTCTGCGGCC	0.662		NaN											1	0	9.57592e-29	0.01441	1.04963e-28	39	41				
ARHGEF1	9138	broad.mit.edu	37	19	42407459	42407459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:42407459G>A	uc002orx.2	+	19	1850	c.1741G>A	c.(1741-1743)GAG>AAG	p.E581K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E548K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E419K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E596K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E563K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E335K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E240K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E25K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	581	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCTGCAGAAGAGCCCACAGA	0.557		NaN											0	0	0	0.001984	0	5	21				
ZNF574	64763	broad.mit.edu	37	19	42583877	42583877	+	Silent	SNP	C	C	T	rs113091672		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:42583877C>T	uc002osm.3	+	2	1288	c.1119C>T	c.(1117-1119)TTC>TTT	p.F373F	ZNF574_uc002osk.3_Silent_p.F463F	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	373	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GCCTGGCCTTCGGCACAGAGG	0.587		NaN											0	0	0	0.006214	0	7	31				
GLTSCR1	29998	broad.mit.edu	37	19	48197590	48197590	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:48197590C>G	uc002phh.3	+	8	2696	c.2502C>G	c.(2500-2502)ATC>ATG	p.I834M	GLTSCR1_uc002phi.3_Missense_Mutation_p.I592M	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	834							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGCCTGGCATCTTTGTCATCC	0.721		NaN											0	0	0	0.014323	0	19	9				
PIH1D1	55011	broad.mit.edu	37	19	49954846	49954846	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:49954846G>C	uc002pns.2	-	1	270	c.-14C>G	c.(-16--12)ATCTC>ATGTC		PIH1D1_uc010yap.1_Translation_Start_Site|PIH1D1_uc010yaq.1_Translation_Start_Site|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17						box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTGGGAAAGAGATCTAGGCGT	0.607		NaN											0	0	0	0.004482	0	4	25				
SCAF1	58506	broad.mit.edu	37	19	50155777	50155777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50155777G>A	uc002poq.2	+	7	2255	c.2131G>A	c.(2131-2133)GAC>AAC	p.D711N		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	711	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCCGGCTTGACAAGTCCGA	0.711		NaN											0	0	0	0.004007	0	15	10				
ZNF473	25888	broad.mit.edu	37	19	50548458	50548458	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50548458C>T	uc002prn.2	+	5	995	c.758C>T	c.(757-759)TCT>TTT	p.S253F	ZNF473_uc002prm.2_Missense_Mutation_p.S253F|ZNF473_uc010ybo.1_Missense_Mutation_p.S241F	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	253					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCTTCCCTTTCTGTGTATCCG	0.453		NaN											0	0	0	0.01441	0	43	223				
NR1H2	7376	broad.mit.edu	37	19	50881973	50881973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50881973C>T	uc010enw.2	+	7	946	c.670C>T	c.(670-672)CAA>TAA	p.Q224*	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.Q223*|NR1H2_uc002psa.3_Nonsense_Mutation_p.Q126*	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	223					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AACAGCGGCTCAAGAACTAAT	0.632		NaN											0	0	0	0.004656	0	27	30				
ACPT	93650	broad.mit.edu	37	19	51295390	51295390	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:51295390G>A	uc002pta.1	+	5	511	c.511G>A	c.(511-513)GAG>AAG	p.E171K		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	171	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGAGGCCACCGAGGCCGCCGA	0.582		NaN											0	0	0	0.00308	0	6	6				
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53855196T>C	uc010ydv.1	+	4	1385	c.1268T>C	c.(1267-1269)ATG>ACG	p.M423T	ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	423	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGTCAGATGTCATCCCTT	0.408		NaN											0	0	0	0.004482	0	4	237				
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53855364_53855365CA>TG	uc010ydv.1	+	4	1553_1554	c.1436_1437CA>TG	c.(1435-1437)ACA>ATG	p.T479M	ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGTCAGACATCATCCCTTG	0.381		NaN											0	0	0	0.004672	0	6	162				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53958826G>A	uc010eqp.2	+	7	1523	c.1065G>A	c.(1063-1065)AAG>AAA	p.K355K	ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418		NaN											0	0	0	0.013537	0	8	350				
LILRB5	10990	broad.mit.edu	37	19	54758713	54758713	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:54758713G>C	uc002qex.2	-	6	1251	c.1140C>G	c.(1138-1140)TTC>TTG	p.F380L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.F371L|LILRB5_uc002qey.2_Missense_Mutation_p.F380L|LILRB5_uc002qez.2_Missense_Mutation_p.F280L|LILRB5_uc002qfa.1_Missense_Mutation_p.F270L|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	380	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCATGGAGAATTCAGCCT	0.547		NaN											0	0	0	0.003755	0	27	87				
PEG3	5178	broad.mit.edu	37	19	57335838	57335838	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:57335838C>T	uc002qnu.2	-	1	537	c.186G>A	c.(184-186)AAG>AAA	p.K62K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.K62K|PEG3_uc002qnv.2_Silent_p.K62K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.K62K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	62	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATCAGGGTCTTCCGAGGCC	0.512		NaN											0	0	0	0.004007	0	12	73				
RRM2	6241	broad.mit.edu	37	2	10263127	10263127	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:10263127G>A	uc002rah.2	+	2	308	c.117G>A	c.(115-117)GGG>GGA	p.G39G		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	39					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCCTGAGCGGGACCCGCGTCC	0.751		NaN											0	0	0	0.009096	0	3	5				
KCNF1	3754	broad.mit.edu	37	2	11053189	11053189	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:11053189G>A	uc002rax.2	+	1	1127	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	213						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGGACGCCGAGGGCAACCG	0.667		NaN											0	0	0	0.00278	0	18	22				
SMC6	79677	broad.mit.edu	37	2	17877556	17877556	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:17877556C>G	uc002rco.2	-	22	2828	c.2532G>C	c.(2530-2532)GAG>GAC	p.E844D	SMC6_uc010exo.2_Missense_Mutation_p.E844D|SMC6_uc002rcn.2_Missense_Mutation_p.E844D|SMC6_uc002rcp.1_Missense_Mutation_p.E870D	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	844	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGAAAAACCTCTAGTTCTT	0.303		NaN											0	0	0	0.006214	0	9	19				
OTOF	9381	broad.mit.edu	37	2	26706333	26706333	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:26706333C>T	uc002rhk.2	-	13	1516	c.1389G>A	c.(1387-1389)CAG>CAA	p.Q463Q		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	463	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTACCTTCTGGCCAGCAA	0.567		NaN											0	0	0	0.00632	0	20	44				
GCKR	2646	broad.mit.edu	37	2	27726416	27726416	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27726416G>A	uc002rky.2	+	9	746	c.680G>A	c.(679-681)CGA>CAA	p.R227Q	GCKR_uc010ezd.2_Missense_Mutation_p.R227Q|GCKR_uc010ylu.1_Missense_Mutation_p.R37Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	227	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCAACATTCCGACAAGTAGCA	0.488		NaN											0	0	0	0.000602	0	3	63				
MRPL33	9553	broad.mit.edu	37	2	27997305	27997305	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27997305G>C	uc002rlm.1	+	3	117	c.56G>C	c.(55-57)AGA>ACA	p.R19T	MRPL33_uc002rln.1_Intron	NM_004891	NP_004882	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33 isoform a	19					translation	mitochondrion|ribosome	structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.155)					ATTCTGGTGAGAATGGTGAGC	0.423		NaN											0	0	0	0.01441	0	51	99				
MRPL33	9553	broad.mit.edu	37	2	27997348	27997348	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27997348G>A	uc002rlm.1	+	3	160	c.99G>A	c.(97-99)AAG>AAA	p.K33K	MRPL33_uc002rln.1_Intron	NM_004891	NP_004882	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33 isoform a	33					translation	mitochondrion|ribosome	structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.155)					TCAACACCAAGAGAAACCGAC	0.453		NaN											0	0	0	0.01441	0	51	88				
CLIP4	79745	broad.mit.edu	37	2	29386751	29386751	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:29386751T>G	uc002rmv.2	+	13	1828	c.1589T>G	c.(1588-1590)GTT>GGT	p.V530G	CLIP4_uc002rmu.2_Missense_Mutation_p.V530G|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	530	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GATGGTTCAGTTGGAGGTGTG	0.378		NaN											0	0	0	0.014323	0	19	109				
SRBD1	55133	broad.mit.edu	37	2	45616464	45616464	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:45616464G>A	uc002rus.2	-	21	3049	c.2973C>T	c.(2971-2973)CTC>CTT	p.L991L	SRBD1_uc010yoc.1_Silent_p.L510L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	991	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACACCCGAATGAGGTCCAGAG	0.448		NaN											0	0	0	0.01441	0	37	69				
TTC7A	57217	broad.mit.edu	37	2	47277133	47277133	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:47277133G>T	uc002rvo.2	+	17	2333	c.1965G>T	c.(1963-1965)AAG>AAT	p.K655N	TTC7A_uc002rvm.2_Missense_Mutation_p.K621N|TTC7A_uc002rvn.1_Missense_Mutation_p.K497N|TTC7A_uc010fbb.2_Missense_Mutation_p.K679N|TTC7A_uc010fbc.2_Missense_Mutation_p.K301N|TTC7A_uc002rvp.2_Missense_Mutation_p.K536N|TTC7A_uc002rvq.2_Missense_Mutation_p.K395N|TTC7A_uc002rvr.2_Missense_Mutation_p.K104N	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	655							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCACCATGAAGAAGCAGAGTG	0.572		NaN											1	0	3.41278e-10	0.00499	3.63668e-10	12	34				
FAM161A	84140	broad.mit.edu	37	2	62066591	62066591	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:62066591G>T	uc010ypo.1	-	3	1650	c.1548C>A	c.(1546-1548)CCC>CCA	p.P516P	FAM161A_uc002sbm.3_Silent_p.P516P|FAM161A_uc002sbn.3_Silent_p.P326P|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.P407P	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	516					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						AAGATACCGTGGGCACGGGAG	0.498		NaN											1	0	1.57019e-19	0.007835	1.70715e-19	30	82				
ARHGAP25	9938	broad.mit.edu	37	2	69002384	69002384	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:69002384G>A	uc002seu.2	+	2	457	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	ARHGAP25_uc010yqk.1_Silent_p.Q5Q|ARHGAP25_uc010fdg.2_Silent_p.Q31Q|ARHGAP25_uc010yql.1_Silent_p.Q31Q|ARHGAP25_uc002sev.2_Silent_p.Q24Q|ARHGAP25_uc002sew.2_Silent_p.Q24Q|ARHGAP25_uc002sex.2_Silent_p.Q24Q|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	31					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CTGGCGAGCAGATGGCTGCCT	0.597		NaN											0	0	0	0.01441	0	178	324				
AUP1	550	broad.mit.edu	37	2	74754468	74754468	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:74754468C>G	uc010yrx.1	-	9	1281	c.1155G>C	c.(1153-1155)TTG>TTC	p.L385F	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.L61F|AUP1_uc002smf.2_Missense_Mutation_p.L328F|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.L237F|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	394	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						TAGTGATAGTCAAGTCTACAC	0.527		NaN											0	0	0	0.001855	0	11	27				
MRPL19	9801	broad.mit.edu	37	2	75879657	75879657	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:75879657C>G	uc002snl.2	+	4	374	c.349C>G	c.(349-351)CTT>GTT	p.L117V	MRPL19_uc002snm.1_Missense_Mutation_p.L117V	NM_014763	NP_055578	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19 precursor	117					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0						AGGAAGTATTCTTCGTGTTAC	0.383		NaN											0	0	0	0.004289	0	32	72				
THNSL2	55258	broad.mit.edu	37	2	88485580	88485580	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:88485580C>T	uc002ssz.3	+	9	1546	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_3'UTR|THNSL2_uc002ssx.3_3'UTR|THNSL2_uc002sta.3_3'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.R465W|THNSL2_uc010fhe.2_3'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	465					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GCTGATGCTTCGGGACACCAT	0.592		NaN											0	0	0	0.009096	0	3	7				
TGFBRAP1	9392	broad.mit.edu	37	2	105924617	105924617	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:105924617G>A	uc002tcq.2	-	2	226	c.142C>T	c.(142-144)CAC>TAC	p.H48Y	TGFBRAP1_uc002tcr.3_Missense_Mutation_p.H48Y	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	48	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						AACAGGAAGTGGTAGACGAAG	0.612		NaN											0	0	0	0.000602	0	4	42				
SULT1C4	27233	broad.mit.edu	37	2	108994856	108994856	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:108994856C>T	uc002tea.1	+	1	436	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	SULT1C4_uc002tdz.2_Silent_p.Y21Y|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.Y21Y	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	21					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						GTGTCAACTACGTGAAGGGAA	0.438		NaN											0	0	0	0.01441	0	61	133				
NEB	4703	broad.mit.edu	37	2	152381062	152381062	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:152381062C>G	uc010fnx.2	-	124	17429	c.17238G>C	c.(17236-17238)AAG>AAC	p.K5746N	NEB_uc002txr.2_Missense_Mutation_p.K2169N|NEB_uc002txt.3_Missense_Mutation_p.K251N	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5746	Nebulin 157.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTGGCCTTCTTGATGTCTG	0.498		NaN											0	0	0	0.01441	0	73	124				
XIRP2	129446	broad.mit.edu	37	2	168103798	168103798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:168103798C>T	uc002udx.2	+	8	5914	c.5896C>T	c.(5896-5898)CAG>TAG	p.Q1966*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.Q1791*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.Q1744*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1791					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGATATTCATCAGGTTGCTGT	0.448		NaN											0	0	0	0.006122	0	18	20				
KBTBD10	10324	broad.mit.edu	37	2	170356086	170356086	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:170356086T>C	uc010zdh.1	+	9	830	c.772T>C	c.(772-774)TCT>CCT	p.S258P	BBS5_uc002uet.2_Missense_Mutation_p.S258P|BBS5_uc010fpw.2_Missense_Mutation_p.S237P	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Bardet-Biedl syndrome 5	Error:Variant_position_missing_in_O60662_after_alignment					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CAAAGTCTATTCTGCCAGTCC	0.333		NaN											0	0	0	0.000602	0	3	120				
MAP1D	254042	broad.mit.edu	37	2	172928567	172928567	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:172928567C>G	uc002uhk.2	+	3	400	c.327C>G	c.(325-327)CTC>CTG	p.L109L	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	109					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACGTCCTCCTCTTGGCTGGGA	0.488		NaN											0	0	0	0.009535	0	23	32				
ASNSD1	54529	broad.mit.edu	37	2	190531483	190531483	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:190531483G>A	uc002uqt.2	+	4	1059	c.625G>A	c.(625-627)GAA>AAA	p.E209K		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	209					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAATATTATTGAAGAAAATGT	0.338		NaN											0	0	0	0.004007	0	15	52				
STAT1	6772	broad.mit.edu	37	2	191841752	191841752	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:191841752C>G	uc002usj.2	-	22	2262	c.1874_splice	c.e22-1	p.E625_splice	STAT1_uc010fse.1_Splice_Site_p.E625_splice|STAT1_uc002usk.2_Splice_Site_p.E625_splice|STAT1_uc002usl.2_Splice_Site_p.E627_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AAGTCAGGTTCTAAAAAGGAG	0.403		NaN											0	0	0	0.004656	0	23	45				
CFLAR	8837	broad.mit.edu	37	2	202025318	202025318	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:202025318G>A	uc002uxb.3	+	9	1409	c.957G>A	c.(955-957)CAG>CAA	p.Q319Q	CFLAR_uc010zhk.1_Silent_p.Q223Q|CFLAR_uc002uxc.3_Silent_p.Q284Q|CFLAR_uc010zhl.1_Silent_p.Q223Q|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.Q319Q|CFLAR_uc002uxf.2_Silent_p.Q319Q|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.Q223Q|CFLAR_uc010fsz.2_Silent_p.Q74Q|CFLAR_uc002uxg.2_Silent_p.Q74Q|uc002uxh.1_5'Flank	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	319	Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						GAGGCTCCCAGAGTGTGTATG	0.537		NaN											0	0	0	0.01441	0	42	76				
NBEAL1	65065	broad.mit.edu	37	2	204016211	204016211	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:204016211A>T	uc002uzt.3	+	34	5732	c.5399A>T	c.(5398-5400)AAG>ATG	p.K1800M	NBEAL1_uc002uzs.3_Missense_Mutation_p.K510M	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1800							binding			ovary(1)|skin(1)	2						ATTCACTGGAAGCTAGCTAAT	0.313		NaN											0	0	0	0.010729	0	8	41				
ACCN4	55515	broad.mit.edu	37	2	220400035	220400035	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:220400035G>C	uc002vma.2	+	5	1556	c.1542G>C	c.(1540-1542)GAG>GAC	p.E514D	ACCN4_uc002vlz.2_Missense_Mutation_p.E533D|ACCN4_uc002vmb.2_Missense_Mutation_p.E187D	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	514	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		ACCGCAACGAGACCTACATAC	0.393		NaN											0	0	0	0.004482	0	9	9				
SP140	11262	broad.mit.edu	37	2	231110622	231110622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:231110622G>T	uc002vql.2	+	7	824	c.709G>T	c.(709-711)GAA>TAA	p.E237*	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Nonsense_Mutation_p.E237*|SP140_uc002vqn.2_Nonsense_Mutation_p.E234*|SP140_uc002vqm.2_Intron|SP140_uc010fxl.2_Nonsense_Mutation_p.E237*	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	237					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAATCAGAAGAAATGCCCAA	0.373		NaN											1	0	2.94398e-08	0.007413	3.09407e-08	11	52				
PSMF1	9491	broad.mit.edu	37	20	1106163	1106163	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:1106163C>T	uc002wel.3	+	3	320	c.152C>T	c.(151-153)TCA>TTA	p.S51L	PSMF1_uc010zpo.1_5'UTR|PSMF1_uc002wem.3_Missense_Mutation_p.S51L|PSMF1_uc010zpp.1_Missense_Mutation_p.S51L|PSMF1_uc002wen.3_Missense_Mutation_p.S51L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0						GATAAGAAGTCAGAACTGCTG	0.378		NaN											0	0	0	0.007413	0	13	37				
TM9SF4	9777	broad.mit.edu	37	20	30753246	30753246	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:30753246G>C	uc002wxj.2	+	18	2163	c.1928G>C	c.(1927-1929)TGA>TCA	p.*643S	TM9SF4_uc010zts.1_Nonstop_Mutation_p.*550S|TM9SF4_uc002wxk.2_Nonstop_Mutation_p.*626S|TM9SF4_uc010gdz.2_Nonstop_Mutation_p.*522S	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	643						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGATAGACTGATTGGAGTGG	0.537		NaN											0	0	0	0.010818	0	26	40				
POFUT1	23509	broad.mit.edu	37	20	30816133	30816133	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:30816133G>A	uc002wxp.2	+	5	659	c.610G>A	c.(610-612)GAA>AAA	p.E204K	POFUT1_uc010ztt.1_Missense_Mutation_p.E96K|POFUT1_uc010ztu.1_5'UTR	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	204					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCTAGAGGAACACAGGCC	0.557		NaN											0	0	0	0.014323	0	20	40				
PLCG1	5335	broad.mit.edu	37	20	39802354	39802354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:39802354G>A	uc002xjp.1	+	29	3578	c.3457G>A	c.(3457-3459)GAA>AAA	p.E1153K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1153K|PLCG1_uc010zwe.1_Missense_Mutation_p.E818K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	1153	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CAGTAACCCTGAATTTGCCTT	0.507		NaN									OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	46	98				
PTPRT	11122	broad.mit.edu	37	20	41385232	41385232	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:41385232G>C	uc002xkg.2	-	6	913	c.729C>G	c.(727-729)GTC>GTG	p.V243V	PTPRT_uc010ggj.2_Silent_p.V243V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	243	Extracellular (Potential).|Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTGTGGTTGACCACACGGG	0.582		NaN											0	0	0	0.004482	0	7	21				
PTPRT	11122	broad.mit.edu	37	20	41419965	41419965	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:41419965G>A	uc002xkg.2	-	3	540	c.356C>T	c.(355-357)GCC>GTC	p.A119V	PTPRT_uc010ggj.2_Missense_Mutation_p.A119V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	119	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACGTTCAAGGCCCCTGGGCT	0.597		NaN											0	0	0	0.010771	0	34	44				
RIMS4	140730	broad.mit.edu	37	20	43385652	43385652	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:43385652C>G	uc002xms.2	-	5	478	c.478G>C	c.(478-480)GAG>CAG	p.E160Q	RIMS4_uc010ggu.2_Missense_Mutation_p.E161Q	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	160	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				ATGCCATTCTCTAGCAGGTAG	0.562		NaN											0	0	0	0.01441	0	93	205				
SYS1	90196	broad.mit.edu	37	20	43995738	43995738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:43995738C>T	uc002xnv.2	+	4	712	c.454C>T	c.(454-456)CCT>TCT	p.P152S	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	152					protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CAACTCAGCCCCTAAATCCAA	0.577		NaN											0	0	0	0.005524	0	33	77				
UBE2C	11065	broad.mit.edu	37	20	44442074	44442074	+	Splice_Site	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:44442074A>G	uc002xpm.2	+	2	182	c.102_splice	c.e2-2	p.R34_splice	UBE2C_uc002xpl.2_Splice_Site_p.R34_splice|UBE2C_uc002xpn.2_5'UTR|UBE2C_uc002xpo.2_Splice_Site_p.R34_splice|UBE2C_uc002xpp.2_Splice_Site_p.R34_splice|UBE2C_uc002xpq.2_Splice_Site	NM_007019	NP_008950	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C isoform 1						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Myeloproliferative disorder(115;0.0122)				CTCTTTTTTCAGGCTACAGCA	0.542		NaN											0	0	0	0.01441	0	32	125				
SLC12A5	57468	broad.mit.edu	37	20	44684813	44684813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:44684813C>G	uc010zxl.1	+	22	2957	c.2881C>G	c.(2881-2883)CGA>GGA	p.R961G	SLC12A5_uc002xrb.2_Missense_Mutation_p.R938G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	961	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGATGAGTCACGAGGCTCAAT	0.547		NaN											0	0	0	0.006122	0	13	31				
MOCS3	27304	broad.mit.edu	37	20	49576335	49576335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:49576335C>A	uc002xvy.1	+	1	973	c.956C>A	c.(955-957)TCA>TAA	p.S319*	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	319					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						TGTGGCTCCTCAGCCACTGAT	0.587		NaN											1	0	2.89027e-11	0.014323	3.09218e-11	19	63				
GATA5	140628	broad.mit.edu	37	20	61041539	61041539	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:61041539C>T	uc002ycx.1	-	4	830	c.768G>A	c.(766-768)CGG>CGA	p.R256R		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	256	GATA-type 2.				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCTCCGAGTTCCGCCGCCACA	0.706		NaN											0	0	0	0.008291	0	7	10				
SLCO4A1	28231	broad.mit.edu	37	20	61299480	61299480	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:61299480C>A	uc002ydb.1	+	9	1960	c.1755C>A	c.(1753-1755)TTC>TTA	p.F585L	SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	585	Helical; Name=10; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTTTCATATTCGTTGTAATTT	0.488		NaN									OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.6726e-16	0.003954	3.94492e-16	23	56				
TPTE	7179	broad.mit.edu	37	21	10906963	10906963	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:10906963A>T	uc002yip.1	-	24	1966	c.1598T>A	c.(1597-1599)GTG>GAG	p.V533E	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V515E|TPTE_uc002yir.1_Missense_Mutation_p.V495E|TPTE_uc010gkv.1_Missense_Mutation_p.V395E	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	533	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTATCTCCACGGCAAAATC	0.353		NaN											0	0	0	0.001855	0	11	85				
CXADR	1525	broad.mit.edu	37	21	18933792	18933792	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:18933792C>T	uc002yki.2	+	6	949	c.831C>T	c.(829-831)ATC>ATT	p.I277I	CXADR_uc002ykh.1_Intron|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Silent_p.I250I	NM_001338	NP_001329	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277	Cytoplasmic (Potential).				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			ovary(1)	1				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATCACGATATCAGGTAATTAA	0.363		NaN											0	0	0	0.00278	0	16	25				
TIAM1	7074	broad.mit.edu	37	21	32598123	32598123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:32598123C>T	uc002yow.1	-	8	2200	c.1728G>A	c.(1726-1728)ATG>ATA	p.M576I	TIAM1_uc011adk.1_Missense_Mutation_p.M576I|TIAM1_uc011adl.1_Missense_Mutation_p.M576I|TIAM1_uc002yox.1_Missense_Mutation_p.M184I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	576					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCTTTTCATCCATGTCAATCT	0.448		NaN											0	0	0	0.003954	0	22	45				
SFRS15	57466	broad.mit.edu	37	21	33069064	33069064	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:33069064C>T	uc002ypd.2	-	8	1204	c.778_splice	c.e8-1	p.K260_splice	SFRS15_uc002ype.2_Splice_Site_p.K260_splice|SFRS15_uc010glu.2_Splice_Site_p.K245_splice|SFRS15_uc002ypf.1_Intron	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform							nucleus	nucleotide binding|RNA binding				0						CAAGCAACTTCTGGAATAATT	0.388		NaN											0	0	0	0.008361	0	23	50				
IL10RB	3588	broad.mit.edu	37	21	34640812	34640812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:34640812C>T	uc002yrk.1	+	2	262	c.163C>T	c.(163-165)CAG>TAG	p.Q55*	IL10RB_uc002yrh.1_Nonsense_Mutation_p.Q125*|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Nonsense_Mutation_p.Q57*	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	55	Extracellular (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						TTTCACAGCTCAGTACCTAAG	0.532		NaN											0	0	0	0.014323	0	20	60				
IFNAR1	3454	broad.mit.edu	37	21	34717650	34717650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:34717650C>T	uc002yrn.2	+	6	919	c.772C>T	c.(772-774)CAA>TAA	p.Q258*	IFNAR1_uc011adv.1_Nonsense_Mutation_p.Q189*	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	258	Fibronectin type-III 2.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CATGACCTTTCAAGTTCAGTG	0.378		NaN											0	0	0	0.001855	0	9	30				
ITSN1	6453	broad.mit.edu	37	21	35166747	35166747	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:35166747G>C	uc002yta.1	+	17	2195	c.1927G>C	c.(1927-1929)GAA>CAA	p.E643Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E527Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E643Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E606Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E606Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E577Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	643	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CATAGAATTAGAAAAACAAAA	0.383		NaN											0	0	0	0.00245	0	11	23				
ERG	2078	broad.mit.edu	37	21	39817505	39817505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:39817505C>G	uc010gnw.2	-	4	374	c.79G>C	c.(79-81)GAG>CAG	p.E27Q	ERG_uc002yxa.2_Missense_Mutation_p.E20Q|ERG_uc011aek.1_Intron|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Missense_Mutation_p.E27Q|ERG_uc011ael.1_Missense_Mutation_p.E27Q|ERG_uc002yxb.2_Missense_Mutation_p.E27Q|ERG_uc011aem.1_Missense_Mutation_p.E20Q|ERG_uc002yxc.3_Missense_Mutation_p.E27Q	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	27					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				TAGGCACACTCAAACAACGAC	0.502		NaN											0	0	0	0.00333	0	18	40				
IGSF5	150084	broad.mit.edu	37	21	41142978	41142978	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:41142978C>G	uc002yyo.2	+	4	657	c.554C>G	c.(553-555)TCA>TGA	p.S185*		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	185	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				GTCAGCCATTCAAGCTATTAT	0.537		NaN											0	0	0	0.004007	0	13	29				
TMPRSS3	64699	broad.mit.edu	37	21	43800263	43800263	+	Silent	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:43800263C>A	uc002zbb.2	-	10	1212	c.1011G>T	c.(1009-1011)GTG>GTT	p.V337V	TMPRSS3_uc002zay.2_Silent_p.V95V|TMPRSS3_uc002zaz.2_Silent_p.V210V|TMPRSS3_uc002zba.2_Silent_p.V210V|TMPRSS3_uc002zbc.2_Silent_p.V337V	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	337	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						ACGTCCAGCACACTTTTCCAT	0.557		NaN											1	0	1.024e-07	0.000602	1.0741e-07	3	46				
PFKL	5211	broad.mit.edu	37	21	45743762	45743762	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:45743762C>T	uc002zel.2	+	16	1670	c.1611C>T	c.(1609-1611)TTC>TTT	p.F537F	PFKL_uc002zek.2_Silent_p.F584F|PFKL_uc002zem.2_Silent_p.F124F|PFKL_uc002zen.2_Silent_p.F124F	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	537					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		GCACCGACTTCAGCCTGGGCT	0.652		NaN											0	0	0	0.008871	0	13	28				
C21orf29	54084	broad.mit.edu	37	21	45948467	45948467	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:45948467C>G	uc002zfe.1	-	6	857	c.791_splice	c.e6-1	p.E264_splice	C21orf29_uc010gpv.1_Splice_Site_p.E196_splice	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor						cell adhesion	extracellular region	structural molecule activity				0						ATGTTGGTTTCTGAGGGGAAG	0.597		NaN											0	0	0	0.006122	0	15	15				
VPREB1	7441	broad.mit.edu	37	22	22599468	22599468	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:22599468A>T	uc002zvx.1	+	2	183	c.157A>T	c.(157-159)AGC>TGC	p.S53C	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	53	Ig-like V-type.|Complementarity-determining-1.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGGTGTGTACAGCGTCTACTG	0.627		NaN											0	0	0	0.004482	0	6	430				
GSTT1	2952	broad.mit.edu	37	22	24376503	24376503	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:24376503G>A	uc002zze.3	-	5	696	c.643C>T	c.(643-645)CTG>TTG	p.L215L	GSTT1_uc002zzf.3_RNA|GSTT1_uc010gug.2_RNA|GSTT1_uc011ajl.1_Silent_p.L97L|GSTT1_uc010guh.2_RNA	NM_000853	NP_000844	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	215	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			ovary(1)	1					Glutathione(DB00143)	TTGGCCTTCAGAATGACCTCA	0.622		NaN							Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial				0	0	0	0.013726	0	28	113				
PIWIL3	440822	broad.mit.edu	37	22	25150040	25150040	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:25150040C>G	uc003abd.1	-	8	1335	c.918G>C	c.(916-918)CAG>CAC	p.Q306H	PIWIL3_uc011ajx.1_Missense_Mutation_p.Q197H|PIWIL3_uc011ajy.1_Missense_Mutation_p.Q197H|PIWIL3_uc010gut.1_Missense_Mutation_p.Q306H	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	306	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						TGTTTCCTGTCTGGGCCTGGG	0.388		NaN											0	0	0	0.01441	0	52	296				
MN1	4330	broad.mit.edu	37	22	28195117	28195117	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:28195117G>A	uc003adj.2	-	1	2370	c.1415C>T	c.(1414-1416)TCG>TTG	p.S472L		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	472							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GCCGTTCCACGAAGCGCAGCG	0.662		NaN	T	ETV6	AML|meningioma								0	0	0	0.003163	0	13	6				
MOV10L1	54456	broad.mit.edu	37	22	50530602	50530602	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:50530602G>C	uc003bjj.2	+	2	353	c.270G>C	c.(268-270)CTG>CTC	p.L90L	MOV10L1_uc003bjk.3_Silent_p.L90L|MOV10L1_uc011arp.1_Silent_p.L70L|MOV10L1_uc010han.2_Silent_p.L70L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	90					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCAATGGACTGAAAGCAATCA	0.418		NaN											0	0	0	0.004878	0	29	13				
PLXNB2	23654	broad.mit.edu	37	22	50726223	50726223	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:50726223C>A	uc003bkv.3	-	7	1588	c.1482_splice	c.e7-1	p.R494_splice		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor						regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGTGCATCTGCAGGCGCA	0.706		NaN											1	0	3.86212e-05	0.008291	3.9657e-05	8	6				
JAGN1	84522	broad.mit.edu	37	3	9935060	9935060	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9935060G>A	uc003btt.3	+	2	687	c.551G>A	c.(550-552)TGA>TAA	p.*184*	CIDEC_uc003bto.2_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1	184						endoplasmic reticulum membrane|integral to membrane				ovary(1)	1	Medulloblastoma(99;0.227)					AAGCATAAATGAAGCCTCTTT	0.488		NaN											0	0	0	0.009096	0	4	10				
IL17RE	132014	broad.mit.edu	37	3	9956431	9956431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9956431C>G	uc003btu.2	+	16	1534	c.1417C>G	c.(1417-1419)CTG>GTG	p.L473V	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Missense_Mutation_p.L473V|IL17RE_uc003btx.2_Missense_Mutation_p.L357V|IL17RE_uc010hcq.2_Missense_Mutation_p.S497C|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	473	Helical; (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GGGTGTTGTTCTGGCCCTCAC	0.617		NaN											0	0	0	0.01441	0	49	63				
CAND2	23066	broad.mit.edu	37	3	12859276	12859276	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:12859276G>A	uc003bxk.2	+	10	2894	c.2845G>A	c.(2845-2847)GAG>AAG	p.E949K	CAND2_uc003bxj.2_Missense_Mutation_p.E856K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	949	HEAT 20.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CGAGGGTGCTGAGGAGGGCAC	0.672		NaN											0	0	0	0.01441	0	91	57				
SH3BP5	9467	broad.mit.edu	37	3	15297659	15297659	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:15297659G>A	uc003bzp.1	-	9	1491	c.1302C>T	c.(1300-1302)CTC>CTT	p.L434L	SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Silent_p.L277L|SH3BP5_uc003bzr.1_Silent_p.L277L|uc003bzo.1_RNA	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	434				L->A: No change of phosphorylation or binding by phospho-JNK; when associated with A-436.	intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0						ACTGTAGGGAGAGCTGCTTCA	0.378		NaN											0	0	0	0.01441	0	170	150				
DYNC1LI1	51143	broad.mit.edu	37	3	32582547	32582547	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:32582547T>C	uc003cfb.3	-	5	808	c.720A>G	c.(718-720)GTA>GTG	p.V240V	DYNC1LI1_uc011axh.1_Silent_p.V124V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	240					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						AAACTACTAGTACTGGAATGC	0.413		NaN											0	0	0	0.004878	0	26	440				
CNOT10	25904	broad.mit.edu	37	3	32814971	32814971	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:32814971G>C	uc003cfc.1	+	19	2358	c.2103G>C	c.(2101-2103)CAG>CAC	p.Q701H	CNOT10_uc003cfd.1_Missense_Mutation_p.Q700H|CNOT10_uc003cfe.1_Missense_Mutation_p.Q674H|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Q761H|CNOT10_uc010hfw.1_Missense_Mutation_p.Q396H	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	701					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						TGGCCTTACAGATCATCAAAA	0.443		NaN											0	0	0	0.01441	0	116	315				
DLEC1	9940	broad.mit.edu	37	3	38080973	38080973	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:38080973C>T	uc003cho.1	+	1	278	c.257C>T	c.(256-258)TCG>TTG	p.S86L	DLEC1_uc003chp.1_Missense_Mutation_p.S86L|DLEC1_uc010hgv.1_Missense_Mutation_p.S86L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	86					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGCCCCTCCTCGCTGCGCACC	0.652		NaN											0	0	0	0.009535	0	26	64				
XIRP1	165904	broad.mit.edu	37	3	39228574	39228574	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:39228574C>T	uc003cjk.1	-	2	2584	c.2363G>A	c.(2362-2364)GGA>GAA	p.G788E	XIRP1_uc003cji.2_Missense_Mutation_p.G788E|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	788							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGATGCCTCCATGGTGCAG	0.622		NaN											0	0	0	0.004878	0	35	35				
XIRP1	165904	broad.mit.edu	37	3	39228623	39228623	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:39228623C>T	uc003cjk.1	-	2	2535	c.2314G>A	c.(2314-2316)GAG>AAG	p.E772K	XIRP1_uc003cji.2_Missense_Mutation_p.E772K|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	772							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGGTCCCCTCAGCTGCAGTC	0.632		NaN											0	0	0	0.013726	0	27	35				
ZNF502	91392	broad.mit.edu	37	3	44763165	44763165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:44763165C>T	uc011baa.1	+	4	1111	c.856C>T	c.(856-858)CAG>TAG	p.Q286*	ZNF502_uc003cns.2_Nonsense_Mutation_p.Q286*|ZNF502_uc011bab.1_Nonsense_Mutation_p.Q286*|ZNF502_uc003cnt.2_Nonsense_Mutation_p.Q286*	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	286	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TATTCATCATCAGAGAATTCA	0.403		NaN											0	0	0	0.01441	0	169	261				
USP4	7375	broad.mit.edu	37	3	49372916	49372916	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:49372916G>A	uc003cwq.2	-	2	294	c.215C>T	c.(214-216)TCT>TTT	p.S72F	USP4_uc003cwr.2_Missense_Mutation_p.S72F	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	72	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AAATAGCCCAGAGTTGTCTAT	0.453		NaN											0	0	0	0.01441	0	45	59				
HYAL1	3373	broad.mit.edu	37	3	50340340	50340340	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:50340340G>T	uc003czp.2	-	2	180	c.48C>A	c.(46-48)CTC>CTA	p.L16L	HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Silent_p.L16L|HYAL1_uc003czr.2_Silent_p.L16L|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Silent_p.L16L|HYAL1_uc003czt.2_Silent_p.L16L	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	16						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GGGCCATATCGAGTAAGGTCA	0.627		NaN											1	0	3.01185e-09	0.003954	3.18412e-09	21	45				
DNAH1	25981	broad.mit.edu	37	3	52417423	52417423	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:52417423G>A	uc011bef.1	+	51	8224	c.7963G>A	c.(7963-7965)GAA>AAA	p.E2655K	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2655	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCTTCCTGGAAGATATCAA	0.522		NaN											0	0	0	0.008361	0	27	46				
NEK4	6787	broad.mit.edu	37	3	52775460	52775460	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:52775460G>A	uc003dfq.3	-	13	2249	c.2060C>T	c.(2059-2061)TCA>TTA	p.S687L	NEK4_uc011bej.1_Missense_Mutation_p.S598L|NEK4_uc003dfr.2_Missense_Mutation_p.S641L	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	687					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTATCAGTTGAACTTGTAGA	0.328		NaN											0	0	0	0.01441	0	52	94				
ASB14	142686	broad.mit.edu	37	3	57312522	57312522	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:57312522C>T	uc003diq.2	-	8	1410	c.822G>A	c.(820-822)AGG>AGA	p.R274R	ASB14_uc003dip.1_Silent_p.R153R	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box-containing 14	438	ANK 11.				intracellular signal transduction						0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCAGCAGCATCCTGAGCATGA	0.453		NaN											0	0	0	0.01441	0	108	152				
PTPRG	5793	broad.mit.edu	37	3	62189597	62189597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:62189597G>C	uc003dlb.2	+	12	2847	c.2128G>C	c.(2128-2130)GAC>CAC	p.D710H	PTPRG_uc003dlc.2_Missense_Mutation_p.D710H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	710	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTTCTGAAGACAGCAGATT	0.512		NaN											0	0	0	0.00632	0	20	54				
SYNPR	132204	broad.mit.edu	37	3	63542282	63542282	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:63542282G>C	uc003dlq.2	+	3	582	c.213G>C	c.(211-213)TTG>TTC	p.L71F	SYNPR_uc003dlp.2_Missense_Mutation_p.L91F|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Missense_Mutation_p.L80F|SYNPR_uc011bfm.1_Intron	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	71	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGCTGGCATTGATTGGTGACT	0.488		NaN											0	0	0	0.013537	0	12	21				
ROBO1	6091	broad.mit.edu	37	3	78649319	78649319	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:78649319C>G	uc003dqe.2	-	30	5093	c.4885G>C	c.(4885-4887)GAA>CAA	p.E1629Q	ROBO1_uc003dqb.2_Missense_Mutation_p.E1590Q|ROBO1_uc003dqc.2_Missense_Mutation_p.E1529Q|ROBO1_uc003dqd.2_Missense_Mutation_p.E1584Q|ROBO1_uc010hoh.2_Missense_Mutation_p.E821Q	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1629	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCTGCATTTCTGCAATATTT	0.378		NaN											0	0	0	0.013537	0	9	28				
VGLL3	389136	broad.mit.edu	37	3	87018080	87018080	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:87018080A>G	uc003dqn.2	-	3	961	c.597T>C	c.(595-597)CCT>CCC	p.P199P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587		NaN											0	0	0	0.004672	0	3	153				
KIAA2018	205717	broad.mit.edu	37	3	113378792	113378792	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:113378792C>G	uc003eam.2	-	7	2148	c.1737G>C	c.(1735-1737)CAG>CAC	p.Q579H	KIAA2018_uc003eal.2_Missense_Mutation_p.Q523H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	579					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TGATTACTATCTGTTGACCTA	0.468		NaN											0	0	0	0.013537	0	8	159				
DRD3	1814	broad.mit.edu	37	3	113847752	113847752	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:113847752G>A	uc003ebd.2	-	8	1437	c.1014C>T	c.(1012-1014)TTC>TTT	p.F338F	DRD3_uc010hqn.1_Silent_p.F338F|DRD3_uc003ebb.1_Silent_p.F305F|DRD3_uc003ebc.1_Silent_p.F338F	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	338	Helical; Name=6.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGCAGACAATGAAGGCCCCTA	0.453		NaN											0	0	0	0.005524	0	32	60				
MYLK	4638	broad.mit.edu	37	3	123419015	123419015	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:123419015G>C	uc003ego.2	-	18	3582	c.3300C>G	c.(3298-3300)TTC>TTG	p.F1100L	MYLK_uc011bjw.1_Missense_Mutation_p.F1100L|MYLK_uc003egp.2_Missense_Mutation_p.F1031L|MYLK_uc003egq.2_Missense_Mutation_p.F1100L|MYLK_uc003egr.2_Missense_Mutation_p.F1031L|MYLK_uc003egs.2_Missense_Mutation_p.F924L|MYLK_uc003egt.2_Missense_Mutation_p.F291L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1100	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTTCTGCTTGAAGGCTGGGG	0.532		NaN											0	0	0	0.007835	0	36	62				
KALRN	8997	broad.mit.edu	37	3	124413237	124413237	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:124413237G>A	uc003ehg.2	+	53	7591	c.7464G>A	c.(7462-7464)GTG>GTA	p.V2488V	KALRN_uc003ehk.2_Silent_p.V791V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2487	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGGACACAGTGATACTGCAGT	0.493		NaN											0	0	0	0.01441	0	48	104				
HEG1	57493	broad.mit.edu	37	3	124739800	124739800	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:124739800G>C	uc003ehs.3	-	4	1156	c.1088C>G	c.(1087-1089)TCC>TGC	p.S363C	HEG1_uc011bke.1_Missense_Mutation_p.S363C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	363	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCAATTCTGGAGTCCTTGGG	0.527		NaN											0	0	0	0.001855	0	13	32				
ZXDC	79364	broad.mit.edu	37	3	126185066	126185066	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:126185066C>G	uc003eiv.2	-	5	1427	c.1373G>C	c.(1372-1374)TGC>TCC	p.C458S	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.C458S	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	458	C2H2-type 10.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		GAGTCTGTTGCAGGTAGAAAC	0.572		NaN											0	0	0	0.00632	0	20	43				
RUVBL1	8607	broad.mit.edu	37	3	127800229	127800229	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:127800229G>A	uc003ekh.2	-	11	1339	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Silent_p.P381P	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	412					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CAAGTTGGCCGGGGTCAGCAG	0.537		NaN											0	0	0	0.009096	0	3	48				
COL6A6	131873	broad.mit.edu	37	3	130282479	130282479	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:130282479A>G	uc010htl.2	+	2	663	c.632A>G	c.(631-633)GAG>GGG	p.E211G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	211	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAGTACAAGGAGGGAGCAGTT	0.403		NaN											0	0	0	0.001168	0	4	59				
DNAJC13	23317	broad.mit.edu	37	3	132213965	132213965	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:132213965C>G	uc003eor.2	+	35	4040	c.3975C>G	c.(3973-3975)TTC>TTG	p.F1325L		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1325	J.						heat shock protein binding			ovary(1)|breast(1)	2						AAGCTTACTTCAGACTTGCAC	0.378		NaN											0	0	0	0.008871	0	16	36				
NMD3	51068	broad.mit.edu	37	3	160968072	160968072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:160968072G>A	uc003feb.1	+	15	1458	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	NMD3_uc003fec.2_Missense_Mutation_p.E447K|NMD3_uc003fed.1_Missense_Mutation_p.E447K	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	447	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGAAGATCTTGAAGAAGATGA	0.279		NaN											0	0	0	0.003954	0	16	30				
GHSR	2693	broad.mit.edu	37	3	172165775	172165775	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:172165775G>A	uc003fib.1	-	1	429	c.429C>T	c.(427-429)TTC>TTT	p.F143F	GHSR_uc011bpv.1_Silent_p.F143F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	143	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCAGATGGCGAAGTAGCGCT	0.627		NaN											0	0	0	0.008291	0	10	29				
EHHADH	1962	broad.mit.edu	37	3	184922354	184922354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:184922354C>T	uc003fpf.2	-	6	787	c.760G>A	c.(760-762)GAG>AAG	p.E254K	EHHADH_uc011brs.1_Missense_Mutation_p.E158K	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	254	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AGAAACAGCTCCTCCTCCTTC	0.537		NaN											0	0	0	0.01441	0	44	104				
ATP13A3	79572	broad.mit.edu	37	3	194159590	194159590	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:194159590C>G	uc003fty.3	-	16	2224	c.1822G>C	c.(1822-1824)GAA>CAA	p.E608Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.E314Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	608					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTCACCATTTCTTGGTTTCCT	0.318		NaN											0	0	0	0.01441	0	40	94				
MUC20	200958	broad.mit.edu	37	3	195451911	195451911	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:195451911A>C	uc010hzo.2	+	2	563	c.437A>C	c.(436-438)GAT>GCT	p.D146A	MUC20_uc010hzp.2_Missense_Mutation_p.D111A|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTTTGCACCGATGACAGCTCT	0.557		NaN											0	0	0	0.01441	0	17	343				
LMLN	89782	broad.mit.edu	37	3	197701923	197701923	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:197701923G>A	uc011buo.1	+	3	350	c.328G>A	c.(328-330)GAG>AAG	p.E110K	LMLN_uc003fyt.2_Missense_Mutation_p.E58K|LMLN_uc010iar.2_Missense_Mutation_p.E110K|LMLN_uc010ias.2_Missense_Mutation_p.E58K|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	110					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTTGCTCCCTGAGAAAAAGAA	0.164		NaN											0	0	0	0.004878	0	28	69				
MFSD7	84179	broad.mit.edu	37	4	675782	675782	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:675782G>A	uc003gay.2	-	10	1705	c.1648C>T	c.(1648-1650)CAC>TAC	p.H550Y	MYL5_uc003gat.2_RNA|MYL5_uc003gau.2_RNA|MYL5_uc003gav.2_Silent_p.*174*|MFSD7_uc003gaw.2_Missense_Mutation_p.H292Y|MFSD7_uc003gax.2_Missense_Mutation_p.H549Y|MFSD7_uc003gaz.2_Missense_Mutation_p.H431Y|MFSD7_uc003gba.2_Missense_Mutation_p.H453Y|MFSD7_uc003gbb.1_3'UTR	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	550					transmembrane transport	integral to membrane					0						AAGGAGGAGTGAGACCCAGCC	0.657		NaN											0	0	0	0.00308	0	5	24				
GSX2	170825	broad.mit.edu	37	4	54968002	54968002	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:54968002G>C	uc010igp.1	+	2	1092	c.828G>C	c.(826-828)GGG>GGC	p.G276G	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	276						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGTGCGTCGGGAGCCAGGTGC	0.607		NaN											0	0	0	0.006214	0	10	25				
LPHN3	23284	broad.mit.edu	37	4	62758676	62758676	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:62758676G>A	uc010ihh.2	+	7	1752	c.1579G>A	c.(1579-1581)GGT>AGT	p.G527S	LPHN3_uc003hcq.3_Missense_Mutation_p.G527S|LPHN3_uc003hcs.1_Missense_Mutation_p.G356S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	527	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AGGAACTATAGGTAAGTCTGT	0.353		NaN											0	0	0	0.004672	0	2	5				
ALB	213	broad.mit.edu	37	4	74279157	74279157	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:74279157C>T	uc003hgs.3	+	8	937	c.864C>T	c.(862-864)ATC>ATT	p.I288I	ALB_uc003hgw.3_Silent_p.I96I|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.I288I|ALB_uc010iii.2_Silent_p.I173I|ALB_uc003hgu.3_Silent_p.I138I|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.I178I|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	288	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCAAGTATATCTGTGAAAATC	0.403		NaN											0	0	0	0.00623	0	31	44				
SEPT11	55752	broad.mit.edu	37	4	77917662	77917662	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:77917662C>G	uc003hkj.2	+	2	274	c.112C>G	c.(112-114)CAA>GAA	p.Q38E	SEPT11_uc010ijh.1_Missense_Mutation_p.Q30E|SEPT11_uc011cca.1_Missense_Mutation_p.Q48E	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	38					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						GTCTACTTCTCAAGGATTCTG	0.438		NaN											0	0	0	0.004007	0	10	60				
HNRPDL	9987	broad.mit.edu	37	4	83350483	83350483	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:83350483C>G	uc003hmr.2	-	1	896	c.361G>C	c.(361-363)GAG>CAG	p.E121Q	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E121Q	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	121					regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTCATATCCTCCATAGTGACG	0.587		NaN											0	0	0	0.01441	0	67	63				
AFF1	4299	broad.mit.edu	37	4	87967934	87967934	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:87967934C>T	uc003hqj.3	+	3	633	c.226C>T	c.(226-228)CAC>TAC	p.H76Y	AFF1_uc011ccx.1_Missense_Mutation_p.H17Y|AFF1_uc003hqh.1_Missense_Mutation_p.H83Y|AFF1_uc011ccy.1_Missense_Mutation_p.H83Y|AFF1_uc011ccz.1_Missense_Mutation_p.H83Y|AFF1_uc003hqk.3_Missense_Mutation_p.H76Y|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	76						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TACTAAGTCTCACACTCATCG	0.438		NaN											0	0	0	0.01441	0	70	275				
AFF1	4299	broad.mit.edu	37	4	88036278	88036278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:88036278C>T	uc003hqj.3	+	11	2679	c.2272C>T	c.(2272-2274)CCA>TCA	p.P758S	AFF1_uc011ccz.1_Missense_Mutation_p.P765S|AFF1_uc003hqk.3_Missense_Mutation_p.P758S|AFF1_uc011cda.1_Missense_Mutation_p.P396S	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	758						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACTCCTCCCCCACAAAGCTT	0.597		NaN											0	0	0	0.01441	0	50	90				
GLRB	2743	broad.mit.edu	37	4	158091590	158091590	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:158091590G>A	uc003ipj.2	+	10	1406	c.1204G>A	c.(1204-1206)GAG>AAG	p.E402K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	402	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTAGGTTGGTGAGACCAGATG	0.308		NaN											0	0	0	0.012319	0	17	7				
KIAA0947	23379	broad.mit.edu	37	5	5465303	5465303	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:5465303G>C	uc003jdm.3	+	13	6078	c.5856G>C	c.(5854-5856)GAG>GAC	p.E1952D		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1952										ovary(1)|central_nervous_system(1)	2						GAGATCAAGAGAAGGAAGTTG	0.368		NaN											0	0	0	0.004672	0	2	6				
PRDM9	56979	broad.mit.edu	37	5	23527167	23527167	+	Missense_Mutation	SNP	G	G	C	rs112679149		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:23527167G>C	uc003jgo.2	+	11	2152	c.1970G>C	c.(1969-1971)AGA>ACA	p.R657T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	657	C2H2-type 6.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CACCAGAGGAGACACACAGGG	0.607		NaN								HNSCC(3;0.000094)			0	0	0	0.000602	0	3	109				
C5orf42	65250	broad.mit.edu	37	5	37115115	37115115	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:37115115C>A	uc011cpa.1	-	50	9416	c.9185G>T	c.(9184-9186)GGA>GTA	p.G3062V	C5orf42_uc003jko.1_Missense_Mutation_p.G93V|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.G1580V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.G2155V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	3062										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTTTGGCTCCACCAGCTTT	0.348		NaN											1	0	1.55795e-14	0.012319	1.67012e-14	19	14				
MRPS30	10884	broad.mit.edu	37	5	44809390	44809390	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:44809390T>A	uc003joh.2	+	1	364	c.326T>A	c.(325-327)TTC>TAC	p.F109Y	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	109					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					TACCAGTACTTCACCAAGACC	0.498		NaN											0	0	0	0.00632	0	21	25				
MSH3	4437	broad.mit.edu	37	5	79965995	79965995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:79965995C>A	uc003kgz.2	+	4	912	c.659C>A	c.(658-660)TCA>TAA	p.S220*		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	220	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTTCCAAATCAGCTAACAAA	0.378		NaN						MMR					1	0	0.00010058	0.013537	0.000102687	13	13				
GPR98	84059	broad.mit.edu	37	5	90124866	90124866	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90124866G>A	uc003kju.2	+	77	16570	c.16474G>A	c.(16474-16476)GAT>AAT	p.D5492N	GPR98_uc003kjt.2_Missense_Mutation_p.D3198N|GPR98_uc003kjw.2_Missense_Mutation_p.D1153N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5492	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTAGAAAGTGATGAATCTCA	0.433		NaN											0	0	0	0.00874	0	35	34				
GPR98	84059	broad.mit.edu	37	5	90124959	90124959	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90124959G>T	uc003kju.2	+	77	16663	c.16567G>T	c.(16567-16569)GAT>TAT	p.D5523Y	GPR98_uc003kjt.2_Missense_Mutation_p.D3229Y|GPR98_uc003kjw.2_Missense_Mutation_p.D1184Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5523	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGGCCAGAGATTCTGGGAC	0.418		NaN											1	0	5.10314e-47	0.01441	5.65142e-47	75	53				
ARRDC3	57561	broad.mit.edu	37	5	90678672	90678672	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90678672C>G	uc003kjz.2	-	1	478	c.238G>C	c.(238-240)GAG>CAG	p.E80Q	LOC100129716_uc003kka.3_Intron	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	80					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTGAAATACTCTACTTCTTCA	0.378		NaN											0	0	0	0.01441	0	44	40				
SHROOM1	134549	broad.mit.edu	37	5	132160501	132160501	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:132160501C>G	uc003kxx.2	-	6	1852	c.1047G>C	c.(1045-1047)CAG>CAC	p.Q349H	SHROOM1_uc003kxy.1_Missense_Mutation_p.Q349H	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	349					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCTCTTTCTGAGGCAAGA	0.542		NaN											0	0	0	0.000602	0	4	22				
SEC24A	10802	broad.mit.edu	37	5	134044472	134044472	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:134044472C>G	uc003kzs.2	+	18	2909	c.2621C>G	c.(2620-2622)TCC>TGC	p.S874C	SEC24A_uc011cxu.1_Missense_Mutation_p.S638C	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	874					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCATTGACTCCCTTTCAGCT	0.468		NaN											0	0	0	0.004878	0	33	46				
ETF1	2107	broad.mit.edu	37	5	137846256	137846256	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:137846256C>G	uc003ldc.3	-	9	1246	c.1081G>C	c.(1081-1083)GAG>CAG	p.E361Q	ETF1_uc011cyv.1_Missense_Mutation_p.E347Q|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.E328Q	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	361					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCACATACCTCTTTGTCTGTG	0.398		NaN											0	0	0	0.004482	0	6	40				
CTNNA1	1495	broad.mit.edu	37	5	138269620	138269620	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:138269620C>G	uc003ldh.2	+	18	2658	c.2563C>G	c.(2563-2565)CCT>GCT	p.P855A	CTNNA1_uc011cyx.1_Missense_Mutation_p.P752A|CTNNA1_uc011cyy.1_Missense_Mutation_p.P732A|CTNNA1_uc003ldi.2_Missense_Mutation_p.P553A|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.P485A	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	855					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCAACCTTCCTGCTGTGTC	0.478		NaN											0	0	0	0.000602	0	3	39				
SH3RF2	153769	broad.mit.edu	37	5	145317639	145317639	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:145317639C>T	uc003lnt.2	+	2	386	c.148C>T	c.(148-150)CCC>TCC	p.P50S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P50S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	50	RING-type.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCGGTGCCCCGAATGCAG	0.592		NaN											0	0	0	0.009096	0	4	37				
TLX3	30012	broad.mit.edu	37	5	170736430	170736430	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:170736430G>T	uc003mbf.2	+	1	143	c.61G>T	c.(61-63)GAC>TAC	p.D21Y	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCGGCATCGACCAGATCCT	0.781		NaN	T	BCL11B	T-ALL								1	0	5.18039e-06	0.00308	5.35008e-06	6	9				
BTNL8	79908	broad.mit.edu	37	5	180338519	180338519	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:180338519T>G	uc003mmp.2	+	3	812	c.578T>G	c.(577-579)ATC>AGC	p.I193S	BTNL8_uc003mmq.2_Missense_Mutation_p.I193S|BTNL8_uc011dhg.1_Missense_Mutation_p.I68S|BTNL8_uc010jll.2_Missense_Mutation_p.I193S|BTNL8_uc010jlm.2_Missense_Mutation_p.I77S|BTNL8_uc011dhh.1_Missense_Mutation_p.I9S	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	193	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGTGGAGATCTCTCTGACC	0.552		NaN											0	0	0	0.004878	0	31	36				
DUSP22	56940	broad.mit.edu	37	6	348771	348771	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:348771T>C	uc003msx.2	+	7	877	c.438T>C	c.(436-438)TAT>TAC	p.Y146Y	DUSP22_uc011dhn.1_Silent_p.Y146Y|DUSP22_uc003msy.1_Silent_p.Y103Y	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	146					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTCTCCAGTATCGGCAGTGGC	0.517		NaN											0	0	0	0.001984	0	5	107				
CDYL	9425	broad.mit.edu	37	6	4943831	4943831	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:4943831C>T	uc003mwi.2	+	7	1466	c.1335C>T	c.(1333-1335)GTC>GTT	p.V445V	CDYL_uc003mwj.2_Silent_p.V391V|CDYL_uc003mwk.2_Silent_p.V156V|CDYL_uc011dhx.1_Silent_p.V259V|CDYL_uc011dhy.1_Silent_p.V259V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	445					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTGTAGCAGTCAATGGCCCAG	0.383		NaN											0	0	0	0.00308	0	6	83				
F13A1	2162	broad.mit.edu	37	6	6224981	6224981	+	Missense_Mutation	SNP	C	C	T	rs139164988		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:6224981C>T	uc003mwv.2	-	7	1034	c.911G>A	c.(910-912)CGG>CAG	p.R304Q	F13A1_uc011dib.1_Missense_Mutation_p.R241Q	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	304					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTCAGAGCTCCGGTATTCCAA	0.463		NaN											0	0	0	0.013114	0	38	73				
LY86	9450	broad.mit.edu	37	6	6589066	6589066	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:6589066T>A	uc003mwy.1	+	1	133	c.99T>A	c.(97-99)TGT>TGA	p.C33*	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	33					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					ACGTGGTCTGTAGCGACAGCG	0.572		NaN											0	0	0	0.008291	0	9	62				
SYCP2L	221711	broad.mit.edu	37	6	10891745	10891745	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:10891745G>C	uc003mzo.2	+	2	306	c.10_splice	c.e2-1	p.K4_splice	SYCP2L_uc011dim.1_Splice_Site	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTCCACACAGAAAAACAAAG	0.299		NaN											0	0	0	0.004482	0	5	57				
SYCP2L	221711	broad.mit.edu	37	6	10912908	10912908	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:10912908G>A	uc003mzo.2	+	13	1217	c.921G>A	c.(919-921)ATG>ATA	p.M307I	SYCP2L_uc011din.1_Missense_Mutation_p.M148I|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	307						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCTTACAGATGAGAAAACCAG	0.343		NaN											0	0	0	0.00245	0	12	51				
OR2B6	26212	broad.mit.edu	37	6	27925119	27925119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925119C>G	uc011dkx.1	+	1	101	c.101C>G	c.(100-102)TCT>TGT	p.S34C		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCTTGATTTCTTACACTGTG	0.418		NaN											0	0	0	0.012319	0	21	65				
OR2B6	26212	broad.mit.edu	37	6	27925668	27925668	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925668C>T	uc011dkx.1	+	1	650	c.650C>T	c.(649-651)TCA>TTA	p.S217L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATCCTTATATCATATGCTTTT	0.423		NaN											0	0	0	0.01441	0	40	169				
OR2B6	26212	broad.mit.edu	37	6	27925844	27925844	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925844C>T	uc011dkx.1	+	1	826	c.826C>T	c.(826-828)CTC>TTC	p.L276F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GATGGTTTCTCTCTTCTATGG	0.438		NaN											0	0	0	0.004007	0	14	67				
ZKSCAN3	80317	broad.mit.edu	37	6	28333556	28333556	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:28333556G>A	uc003nle.3	+	6	1327	c.1111G>A	c.(1111-1113)GAG>AAG	p.E371K	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.E371K|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.E223K|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	371	C2H2-type 3.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GAAGCCATATGAGTGTGAAGA	0.493		NaN											0	0	0	0.001168	0	5	80				
OR2W1	26692	broad.mit.edu	37	6	29012734	29012734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:29012734G>C	uc003nlw.2	-	1	219	c.219C>G	c.(217-219)TTC>TTG	p.F73L		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGCTGGTTGTGAAACATAGAT	0.428		NaN											0	0	0	0.000602	0	4	63				
MDC1	9656	broad.mit.edu	37	6	30672288	30672288	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:30672288C>A	uc003nrg.3	-	10	5112	c.4672G>T	c.(4672-4674)GGC>TGC	p.G1558C	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.G1165C	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1558	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TTTGTCCTGCCCCTAGTGGCC	0.582		NaN						Other_conserved_DNA_damage_response_genes					1	0	0.000157383	0.00308	0.000160071	5	201				
NFKBIL1	4795	broad.mit.edu	37	6	31516038	31516038	+	Silent	SNP	C	C	T	rs144376753		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31516038C>T	uc003nub.2	+	2	275	c.156C>T	c.(154-156)CTC>CTT	p.L52L	BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Silent_p.L29L|NFKBIL1_uc011dns.1_Silent_p.L29L|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Silent_p.L52L	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	52					cytoplasmic sequestering of transcription factor		protein binding				0						CCCAGGCCCTCCTCCAGCGAC	0.677		NaN											0	0	0	0.003954	0	19	17				
MSH5	4439	broad.mit.edu	37	6	31708290	31708290	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31708290G>A	uc003nwv.1	+	2	126	c.47G>A	c.(46-48)AGA>AAA	p.R16K	MSH5_uc003nwt.1_Missense_Mutation_p.R16K|MSH5_uc003nwu.1_Missense_Mutation_p.R16K|MSH5_uc003nww.1_Missense_Mutation_p.R16K|MSH5_uc003nwx.1_Missense_Mutation_p.R16K	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	16					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CAGGGACCGAGACCTGGGGCG	0.582		NaN						Direct_reversal_of_damage|MMR					0	0	0	0.001168	0	3	5				
MSH5	4439	broad.mit.edu	37	6	31721100	31721100	+	Missense_Mutation	SNP	C	C	T	rs142533600		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31721100C>T	uc003nwv.1	+	11	914	c.835C>T	c.(835-837)CAT>TAT	p.H279Y	MSH5_uc003nwt.1_Missense_Mutation_p.H296Y|MSH5_uc003nwu.1_Missense_Mutation_p.H279Y|MSH5_uc003nww.1_Missense_Mutation_p.H279Y|MSH5_uc003nwx.1_Missense_Mutation_p.H296Y|MSH5_uc011dof.1_5'UTR|MSH5_uc003nwy.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	279					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						ACGTCCGACTCATGACCTGGG	0.512		NaN						Direct_reversal_of_damage|MMR					0	0	0	0.01441	0	104	73				
C6orf10	10665	broad.mit.edu	37	6	32261066	32261066	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:32261066C>G	uc011dpy.1	-	12	1557	c.1384G>C	c.(1384-1386)GAG>CAG	p.E462Q	C6orf10_uc011dpx.1_Missense_Mutation_p.E244Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	462						integral to membrane				skin(1)	1						ACACTCACCTCAGTGTTCTTT	0.453		NaN											0	0	0	0.013537	0	10	233				
SYNGAP1	8831	broad.mit.edu	37	6	33393617	33393617	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:33393617C>G	uc011dri.1	+	3	427	c.232C>G	c.(232-234)CGC>GGC	p.R78G	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R63G|SYNGAP1_uc010juy.2_Missense_Mutation_p.R63G	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	78					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CGAGTCCAGTCGCAACAAACT	0.692		NaN											0	0	0	0.013114	0	34	52				
SYNGAP1	8831	broad.mit.edu	37	6	33408987	33408987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:33408987G>T	uc011dri.1	+	12	2146	c.1951G>T	c.(1951-1953)GAG>TAG	p.E651*	SYNGAP1_uc010juy.2_Nonsense_Mutation_p.E636*|SYNGAP1_uc010juz.2_Nonsense_Mutation_p.E363*	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	651					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CTTCATGAATGAGTTTCTGGA	0.373		NaN											1	0	2.18419e-29	0.01441	2.40396e-29	45	32				
GRM4	2914	broad.mit.edu	37	6	34059676	34059676	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34059676C>T	uc003oir.3	-	2	890	c.720G>A	c.(718-720)CAG>CAA	p.Q240Q	GRM4_uc011dsn.1_Silent_p.Q240Q|GRM4_uc010jvh.2_Silent_p.Q240Q|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Silent_p.Q159Q|GRM4_uc011dsl.1_Silent_p.Q100Q|GRM4_uc003oiq.2_Silent_p.Q107Q|GRM4_uc011dsm.1_Silent_p.Q71Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	240	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CACGGGACTTCTGGATGAAGG	0.637		NaN											0	0	0	0.001984	0	4	24				
C6orf106	64771	broad.mit.edu	37	6	34664291	34664291	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34664291C>T	uc003ojr.2	-	1	335	c.90G>A	c.(88-90)GAG>GAA	p.E30E	C6orf106_uc003ojs.2_Silent_p.E30E	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	30										skin(2)|ovary(1)	3						GCCTCTGGAACTCGGAGATGA	0.647		NaN											0	0	0	0.001168	0	5	21				
ANKS1A	23294	broad.mit.edu	37	6	34985689	34985689	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34985689C>T	uc003ojx.3	+	11	2005	c.1863C>T	c.(1861-1863)CGC>CGT	p.R621R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R161R|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	621						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AACTCAGCCGCAGCTTGTCCA	0.592		NaN											0	0	0	0.00333	0	20	183				
SCUBE3	222663	broad.mit.edu	37	6	35211828	35211828	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:35211828G>C	uc003okf.1	+	17	2166	c.2160G>C	c.(2158-2160)CGG>CGC	p.R720R	SCUBE3_uc003okg.1_Silent_p.R719R|SCUBE3_uc003okh.1_Silent_p.R607R	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	720					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AAGCAGGACGGACCCTATGCT	0.567		NaN											0	0	0	0.013537	0	10	22				
SCUBE3	222663	broad.mit.edu	37	6	35213161	35213161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:35213161C>A	uc003okf.1	+	19	2564	c.2558C>A	c.(2557-2559)TCT>TAT	p.S853Y	SCUBE3_uc003okg.1_Missense_Mutation_p.S852Y|SCUBE3_uc003okh.1_Missense_Mutation_p.S740Y	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	853	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TTCCTGCCATCTGAGGATGAG	0.567		NaN											1	0	3.6726e-16	0.003954	3.94492e-16	19	61				
LRFN2	57497	broad.mit.edu	37	6	40400429	40400429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:40400429C>T	uc003oph.1	-	2	889	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	142	LRR 4.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAAAAGCCTCATCTGCGATG	0.597		NaN											0	0	0	0.004878	0	33	34				
UBR2	23304	broad.mit.edu	37	6	42626436	42626436	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:42626436G>A	uc011dur.1	+	29	3116	c.3116G>A	c.(3115-3117)AGA>AAA	p.R1039K	UBR2_uc011dus.1_Missense_Mutation_p.R684K|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1039	Potential.				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGATTGCCAGACTGCGCAGA	0.408		NaN											0	0	0	0.00499	0	15	42				
KIAA0240	23506	broad.mit.edu	37	6	42796877	42796877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:42796877C>T	uc003osn.1	+	6	957	c.806C>T	c.(805-807)TCT>TTT	p.S269F	KIAA0240_uc003osm.1_Missense_Mutation_p.S269F|KIAA0240_uc011duw.1_Missense_Mutation_p.S269F|KIAA0240_uc003oso.1_Missense_Mutation_p.S269F|KIAA0240_uc003osp.1_Missense_Mutation_p.S269F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	269										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TTTGGGAACTCTAGTTCCAGT	0.453		NaN											0	0	0	0.00499	0	14	20				
XPO5	57510	broad.mit.edu	37	6	43492227	43492227	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:43492227G>C	uc003ovp.2	-	31	3670	c.3459C>G	c.(3457-3459)CTC>CTG	p.L1153L	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	1153					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AACCAGCAATGAGGCGTTTGA	0.473		NaN											0	0	0	0.004007	0	11	42				
REV3L	5980	broad.mit.edu	37	6	111696839	111696839	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:111696839C>G	uc003puy.3	-	13	3042	c.2719G>C	c.(2719-2721)GAG>CAG	p.E907Q	REV3L_uc003pux.3_Missense_Mutation_p.E829Q|REV3L_uc003puz.3_Missense_Mutation_p.E829Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	907					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGGACTGCTCAGTTTCTAAC	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.001855	0	4	57				
REV3L	5980	broad.mit.edu	37	6	111696872	111696872	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:111696872C>G	uc003puy.3	-	13	3009	c.2686G>C	c.(2686-2688)GAC>CAC	p.D896H	REV3L_uc003pux.3_Missense_Mutation_p.D818H|REV3L_uc003puz.3_Missense_Mutation_p.D818H	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	896					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGTGACAGTCTATAAAACCA	0.368		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.003163	0	6	53				
RSPH4A	345895	broad.mit.edu	37	6	116949506	116949506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:116949506C>T	uc003pxe.2	+	3	1781	c.1636C>T	c.(1636-1638)CAT>TAT	p.H546Y	RSPH4A_uc010kee.2_Missense_Mutation_p.H546Y	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	546	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						CAATTGGGTTCATCATGTACA	0.403		NaN							Kartagener_syndrome				0	0	0	0.01441	0	37	120				
KIAA1244	57221	broad.mit.edu	37	6	138483238	138483238	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138483238G>A	uc003qhu.2	+	1	15	c.15G>A	c.(13-15)CTG>CTA	p.L5L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	5					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGAAATCCTGAGGAAGCTGC	0.647		NaN											0	0	0	0.009096	0	3	22				
KIAA1244	57221	broad.mit.edu	37	6	138655797	138655797	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138655797C>A	uc003qhu.2	+	33	5814	c.5814C>A	c.(5812-5814)TTC>TTA	p.F1938L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1938					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCCGTTCTTCATCCTGCCCT	0.572		NaN											1	0	5.16669e-11	0.010729	5.51662e-11	7	36				
KIAA1244	57221	broad.mit.edu	37	6	138655808	138655808	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138655808C>T	uc003qhu.2	+	33	5825	c.5825C>T	c.(5824-5826)TCC>TTC	p.S1942F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1942					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATCCTGCCCTCCTTCCAGTCC	0.577		NaN											0	0	0	0.013537	0	7	30				
SLC22A2	6582	broad.mit.edu	37	6	160664743	160664743	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:160664743G>A	uc003qtf.2	-	7	1310	c.1140C>T	c.(1138-1140)TTC>TTT	p.F380F	SLC22A2_uc003qte.1_Silent_p.F380F	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	380	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGAGTAGAAGAAATCCAGGT	0.527		NaN											0	0	0	0.00333	0	19	52				
CARD11	84433	broad.mit.edu	37	7	2978460	2978460	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:2978460C>T	uc003smv.2	-	7	1274	c.870G>A	c.(868-870)GGG>GGA	p.G290G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	290	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGCGCTTCCCGGCCTGGG	0.632		NaN	Mis		DLBCL								0	0	0	0.010504	0	15	50				
COL28A1	340267	broad.mit.edu	37	7	7421178	7421178	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:7421178C>T	uc003src.1	-	28	2319	c.2202G>A	c.(2200-2202)CAG>CAA	p.Q734Q	COL28A1_uc011jxe.1_Silent_p.Q417Q	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	734	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CACTTACCTTCTGGCCTGGGA	0.458		NaN											0	0	0	0.01441	0	40	79				
COL28A1	340267	broad.mit.edu	37	7	7516808	7516808	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:7516808G>A	uc003src.1	-	14	1285	c.1168C>T	c.(1168-1170)CCC>TCC	p.P390S	COL28A1_uc011jxe.1_Missense_Mutation_p.P73S|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	390	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGACCACGGGGACCCTGGTTa	0.308		NaN											0	0	0	0.006214	0	8	28				
SNX13	23161	broad.mit.edu	37	7	17890577	17890577	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:17890577G>C	uc003stw.1	-	10	1061	c.848C>G	c.(847-849)TCT>TGT	p.S283C	SNX13_uc003stv.2_Missense_Mutation_p.S283C|SNX13_uc010kuc.2_Missense_Mutation_p.S80C			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	283	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTTGCAGTTAGAATCACGGAT	0.318		NaN											0	0	0	0.000602	0	3	12				
BBS9	27241	broad.mit.edu	37	7	33407465	33407465	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:33407465A>C	uc003tdn.1	+	17	2293	c.1780A>C	c.(1780-1782)AAA>CAA	p.K594Q	BBS9_uc003tdo.1_Missense_Mutation_p.K559Q|BBS9_uc003tdp.1_Missense_Mutation_p.K589Q|BBS9_uc003tdq.1_Missense_Mutation_p.K554Q|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K118Q|BBS9_uc003tds.1_Missense_Mutation_p.K17Q|BBS9_uc011kao.1_Missense_Mutation_p.K472Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	594					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TCTTGCTTCCAAAACTTCTCG	0.363		NaN							Bardet-Biedl_syndrome				0	0	0	0.013537	0	12	49				
ABCA13	154664	broad.mit.edu	37	7	48318544	48318544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:48318544G>T	uc003toq.2	+	18	7778	c.7753G>T	c.(7753-7755)GAA>TAA	p.E2585*	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2585					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTTCACATTTGAAAAGATAAA	0.308		NaN											1	0	8.00594e-06	0.007413	8.25228e-06	17	65				
FIGNL1	63979	broad.mit.edu	37	7	50513083	50513083	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:50513083G>C	uc003tpc.2	-	4	2280	c.1903C>G	c.(1903-1905)CAA>GAA	p.Q635E	FIGNL1_uc003tpb.2_Missense_Mutation_p.Q524E|FIGNL1_uc003tpd.2_Missense_Mutation_p.Q635E|FIGNL1_uc003tpe.2_Missense_Mutation_p.Q635E|FIGNL1_uc010kyy.2_Missense_Mutation_p.Q635E	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	635					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GGTCGAACTTGATCCGGTGTT	0.418		NaN											0	0	0	0.00499	0	16	39				
WBSCR17	64409	broad.mit.edu	37	7	71130439	71130439	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:71130439G>A	uc003tvy.2	+	7	1124	c.1124G>A	c.(1123-1125)CGG>CAG	p.R375Q	WBSCR17_uc003tvz.2_Missense_Mutation_p.R74Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	375	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCTTGCTCACGGGTGGCCCAC	0.517		NaN											0	0	0	0.00308	0	5	75				
SPDYE5	442590	broad.mit.edu	37	7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:75130895C>T	uc011kfy.1	+	6	906	c.770C>T	c.(769-771)CCG>CTG	p.P257L		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	257	Arg-rich.										0						TCCATGAACCCGAGGGCCAGG	0.592		NaN											0	0	0	0.010729	0	6	291				
DMTF1	9988	broad.mit.edu	37	7	86794344	86794344	+	Silent	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:86794344C>A	uc003uih.2	+	3	413	c.87C>A	c.(85-87)CTC>CTA	p.L29L	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Intron|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.L29L|DMTF1_uc003uim.1_Silent_p.L29L|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	29	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAGGGAATCTCATTCTTCACT	0.418		NaN											1	0	5.35267e-07	0.007413	5.59265e-07	15	49				
ABCB1	5243	broad.mit.edu	37	7	87150136	87150136	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87150136C>A	uc003uiz.1	-	23	3160	c.2742G>T	c.(2740-2742)CAG>CAT	p.Q914H	ABCB1_uc011khc.1_Missense_Mutation_p.Q850H	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	914	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTCAAACTTCTGCTCCTGAG	0.408		NaN											1	0	6.4771e-29	0.010771	7.11419e-29	36	64				
ABCB1	5243	broad.mit.edu	37	7	87174162	87174162	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87174162T>C	uc003uiz.1	-	17	2459	c.2041A>G	c.(2041-2043)AAG>GAG	p.K681E	ABCB1_uc011khc.1_Missense_Mutation_p.K617E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	681	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTACTAAGCTTTCTGTCTTGG	0.433		NaN											0	0	0	0.001855	0	10	100				
ABCB1	5243	broad.mit.edu	37	7	87180046	87180046	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87180046C>G	uc003uiz.1	-	11	1526	c.1108G>C	c.(1108-1110)GAT>CAT	p.D370H	ABCB1_uc011khc.1_Missense_Mutation_p.D306H	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	370	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTACATTATCAATTATCTTG	0.373		NaN											0	0	0	0.007413	0	13	37				
C7orf63	79846	broad.mit.edu	37	7	89912334	89912334	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:89912334G>C	uc010lep.2	+	13	1752	c.1501G>C	c.(1501-1503)GAT>CAT	p.D501H	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.D176H|C7orf63_uc011khj.1_Missense_Mutation_p.D483H|C7orf63_uc011khk.1_Missense_Mutation_p.D63H	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	501							binding			ovary(1)	1						TGTAAACAAAGATCTTTGTGA	0.383		NaN											0	0	0	0.012319	0	17	28				
ZNF394	84124	broad.mit.edu	37	7	99097298	99097298	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:99097298C>T	uc003uqs.2	-	1	580	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R140Q	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	140	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGCAGAGCCCGCACCACGGC	0.632		NaN											0	0	0	0.01441	0	38	99				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100349878C>T	uc003uwj.2	+	14	2315	c.2150C>T	c.(2149-2151)CCC>CTC	p.P717L	ZAN_uc003uwk.2_Missense_Mutation_p.P717L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	717	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507		NaN											0	0	0	0.004672	0	3	77				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100350361T>C	uc003uwj.2	+	14	2798	c.2633T>C	c.(2632-2634)CTC>CCC	p.L878P	ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	878	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502		NaN											0	0	0	0.00308	0	3	87				
MUC17	140453	broad.mit.edu	37	7	100678824	100678824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100678824C>T	uc003uxp.1	+	3	4180	c.4127C>T	c.(4126-4128)TCA>TTA	p.S1376L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1376	Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCTGTTCATCTCCTACA	0.493		NaN											0	0	0	0.01441	0	128	301				
MUC17	140453	broad.mit.edu	37	7	100681278	100681278	+	Missense_Mutation	SNP	A	A	C	rs145957833	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100681278A>C	uc003uxp.1	+	3	6634	c.6581A>C	c.(6580-6582)AAT>ACT	p.N2194T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2194	Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTGACCAATTCTACTGAA	0.493		NaN											0	0	0	0.003163	0	6	597				
RELN	5649	broad.mit.edu	37	7	103155835	103155835	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:103155835C>T	uc003vca.2	-	50	8076	c.7916G>A	c.(7915-7917)CGC>CAC	p.R2639H	RELN_uc010liz.2_Missense_Mutation_p.R2639H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2639					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCCACCAGCGGAAGCGAGT	0.512		NaN											0	0	0	0.004007	0	13	42				
SYPL1	6856	broad.mit.edu	37	7	105752610	105752610	+	Silent	SNP	G	G	C	rs147008337	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:105752610G>C	uc003vdp.2	-	2	181	c.99C>G	c.(97-99)CTC>CTG	p.L33L	SYPL1_uc003vdo.2_Silent_p.L15L	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	33	Cytoplasmic (Potential).|MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						TGATGAAGCCGAGTGGCTCCT	0.498		NaN											0	0	0	0.00245	0	12	21				
SYPL1	6856	broad.mit.edu	37	7	105752622	105752622	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:105752622G>C	uc003vdp.2	-	2	169	c.87C>G	c.(85-87)CTC>CTG	p.L29L	SYPL1_uc003vdo.2_Silent_p.L11L	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	29	Cytoplasmic (Potential).|MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						GTGGCTCCTTGAGCGGGTTGA	0.493		NaN											0	0	0	0.007413	0	14	22				
SLC13A1	6561	broad.mit.edu	37	7	122769443	122769443	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:122769443G>A	uc003vkm.2	-	9	1050	c.1025C>T	c.(1024-1026)CCA>CTA	p.P342L	SLC13A1_uc010lks.2_Missense_Mutation_p.P218L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	342						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTACCTTATTGGCCCAAGCTT	0.294		NaN											0	0	0	0.00333	0	21	27				
TBXAS1	6916	broad.mit.edu	37	7	139661804	139661804	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:139661804C>T	uc011kqv.1	+	10	1211	c.1047C>T	c.(1045-1047)GAC>GAT	p.D349D	TBXAS1_uc003vvh.2_Silent_p.D303D|TBXAS1_uc010lne.2_Silent_p.D235D|TBXAS1_uc011kqu.1_Silent_p.D254D|TBXAS1_uc003vvi.2_Silent_p.D303D|TBXAS1_uc003vvj.2_Silent_p.D303D|TBXAS1_uc011kqw.1_Silent_p.D283D	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	302	Lumenal (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					TCGTCAGAGACGTTTTCTCCT	0.562		NaN											0	0	0	0.007291	0	23	29				
JHDM1D	80853	broad.mit.edu	37	7	139799789	139799789	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:139799789T>C	uc003vvm.2	-	13	1677	c.1673A>G	c.(1672-1674)AAC>AGC	p.N558S	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	558					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GAGATGTTTGTTGAATTTTCC	0.398		NaN											0	0	0	0.01441	0	44	83				
TRPV5	56302	broad.mit.edu	37	7	142609893	142609893	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:142609893C>G	uc003wby.1	-	13	1807	c.1543G>C	c.(1543-1545)GAG>CAG	p.E515Q		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	515					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GTTGGGTCCTCTGTCTGGAAA	0.468		NaN											0	0	0	0.00874	0	35	71				
ZNF282	8427	broad.mit.edu	37	7	148921496	148921496	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:148921496C>G	uc003wfm.2	+	8	1878	c.1773C>G	c.(1771-1773)AAC>AAG	p.N591K	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	591	C2H2-type 3.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACCTGCAGAACCACCAGCGGC	0.632		NaN											0	0	0	0.001855	0	12	32				
ZNF282	8427	broad.mit.edu	37	7	148921658	148921658	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:148921658C>G	uc003wfm.2	+	8	2040	c.1935C>G	c.(1933-1935)CTC>CTG	p.L645L	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	645	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGGAGTCGCTCAAGGACCACC	0.597		NaN											0	0	0	0.001168	0	6	7				
SSPO	23145	broad.mit.edu	37	7	149489754	149489754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:149489754C>G	uc010lpk.2	+	39	5810	c.5810C>G	c.(5809-5811)TCC>TGC	p.S1937C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1937	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCCGGAGCTCCAACAACCCC	0.697		NaN											0	0	0	0.006122	0	14	26				
REPIN1	29803	broad.mit.edu	37	7	150068792	150068792	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:150068792C>T	uc010lpq.1	+	4	951	c.462C>T	c.(460-462)TTC>TTT	p.F154F	REPIN1_uc003whd.2_Silent_p.F143F|REPIN1_uc010lpr.1_Silent_p.F211F|REPIN1_uc003whc.2_Silent_p.F154F|REPIN1_uc003whe.2_Silent_p.F154F	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	154	C2H2-type 4.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGAGACGCTTCTGGCGACGAA	0.662		NaN											0	0	0	0.006214	0	6	6				
MLL3	58508	broad.mit.edu	37	7	151851456	151851456	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:151851456C>G	uc003wla.2	-	47	12254	c.12035G>C	c.(12034-12036)GGG>GCG	p.G4012A	MLL3_uc003wkz.2_Missense_Mutation_p.G3130A|MLL3_uc003wkx.2_Missense_Mutation_p.G170A|MLL3_uc003wky.2_Missense_Mutation_p.G1576A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4012					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACTTCTACCCCAACCACACT	0.498		NaN	N		medulloblastoma								0	0	0	0.01441	0	37	121		Valid		
FGF17	8822	broad.mit.edu	37	8	21903643	21903643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:21903643C>G	uc003xag.2	+	3	103	c.91C>G	c.(91-93)CCT>GCT	p.P31A	FGF17_uc003xah.2_Intron|FGF17_uc003xai.2_Missense_Mutation_p.P54A	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	31					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCACCCGTCTCCTAATTTTAA	0.557		NaN											0	0	0	0.005524	0	30	22				
PNMA2	10687	broad.mit.edu	37	8	26365475	26365475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:26365475G>A	uc003xez.2	-	3	1567	c.797C>T	c.(796-798)TCA>TTA	p.S266L		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	266					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cacataggctgagaccttctc	0		NaN											0	0	0	0.003163	0	13	18				
NRG1	3084	broad.mit.edu	37	8	32621582	32621582	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:32621582C>A	uc003xiv.2	+	12	2102	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.Q534K|NRG1_uc003xiw.2_Missense_Mutation_p.Q526K|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.Q271K|NRG1_uc010lvs.2_Missense_Mutation_p.Q271K|NRG1_uc010lvp.2_Missense_Mutation_p.Q483K|NRG1_uc010lvq.2_Missense_Mutation_p.Q466K|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.Q372K|NRG1_uc003xja.2_Missense_Mutation_p.Q340K	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	529	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAACGACCCAAGAGTACGA	0.542		NaN											1	0	3.07112e-06	0.010729	3.17784e-06	11	21				
IKBKB	3551	broad.mit.edu	37	8	42176072	42176072	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:42176072C>G	uc003xow.1	+	13	1420	c.1243C>G	c.(1243-1245)CAA>GAA	p.Q415E	IKBKB_uc010lxh.1_Missense_Mutation_p.Q310E|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.Q192E|IKBKB_uc003xox.1_Missense_Mutation_p.Q136E|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.Q413E|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.Q356E	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	415					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GTCTCCAGTTCAAGAGCCCAA	0.498		NaN											0	0	0	0.01441	0	47	92				
CSPP1	79848	broad.mit.edu	37	8	68044264	68044264	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:68044264G>A	uc003xxi.2	+	16	1897	c.1866G>A	c.(1864-1866)CCG>CCA	p.P622P	CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	622						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353		NaN											0	0	0	0.004289	0	28	69				
TPD52	7163	broad.mit.edu	37	8	80992661	80992661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:80992661C>A	uc003ybr.1	-	1	350	c.28G>T	c.(28-30)GAG>TAG	p.E10*	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	10					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TGGTAGTCCTCATATAAGTCC	0.463		NaN											1	0	1.55469e-16	0.00333	1.68007e-16	19	38				
C8orf37	157657	broad.mit.edu	37	8	96281381	96281381	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:96281381C>G	uc003yho.1	-	1	57	c.37G>C	c.(37-39)GAG>CAG	p.E13Q		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	hypothetical protein LOC157657	13											0	Breast(36;3.41e-05)					AACTTGGACTCGACTTCATCC	0.592		NaN									OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	82	247				
MTERFD1	51001	broad.mit.edu	37	8	97269316	97269316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:97269316G>C	uc003yhs.1	-	3	439	c.361C>G	c.(361-363)CCA>GCA	p.P121A	MTERFD1_uc003yhr.1_5'UTR|MTERFD1_uc010mbd.1_Missense_Mutation_p.P121A	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					GGCTGCATTGGAGACAATGGA	0.418		NaN											0	0	0	0.004289	0	27	134				
MRPL13	28998	broad.mit.edu	37	8	121426333	121426333	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:121426333G>C	uc003ypa.2	-	6	725	c.412C>G	c.(412-414)CTT>GTT	p.L138V	MRPL13_uc010mdf.2_RNA	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	138					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)	1	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAATTCTTAAGAATATCTTCT	0.294		NaN											0	0	0	0.000602	0	4	15				
SCRIB	23513	broad.mit.edu	37	8	144885702	144885702	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:144885702G>A	uc003yzp.1	-	24	3461	c.3454C>T	c.(3454-3456)CGT>TGT	p.R1152C	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1152C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1152	PDZ 4.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AAACCCACACGCAGCCGACCG	0.721		NaN											0	0	0	0.007291	0	21	34				
MFSD3	113655	broad.mit.edu	37	8	145736235	145736235	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:145736235C>G	uc003zdi.1	+	4	1179	c.1014C>G	c.(1012-1014)GTC>GTG	p.V338V		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	338	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCACCACAGTCACCTTCACTG	0.642		NaN											0	0	0	0.004007	0	14	37				
ZNF251	90987	broad.mit.edu	37	8	145979132	145979132	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:145979132C>T	uc003zdv.3	-	4	469	c.213G>A	c.(211-213)AAG>AAA	p.K71K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCAAAGTTCCTTCCCCTGCT	0.552		NaN											0	0	0	0.008291	0	7	13				
FOXD4	2298	broad.mit.edu	37	9	117910	117910	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:117910G>A	uc003zfz.2	-	1	508	c.210C>T	c.(208-210)ATC>ATT	p.I70I		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	70					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCCTCGATGTGCTCTC	0.716		NaN											0	0	0	0.014323	0	15	135				
SMARCA2	6595	broad.mit.edu	37	9	2110327	2110327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:2110327C>G	uc003zhc.2	+	24	3465	c.3366C>G	c.(3364-3366)TTC>TTG	p.F1122L	SMARCA2_uc003zhd.2_Missense_Mutation_p.F1122L|SMARCA2_uc010mha.2_Missense_Mutation_p.F1055L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1122	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTTCATTTTCTTGCTGAGCA	0.463		NaN											0	0	0	0.004878	0	30	41		Valid		
FAM154A	158297	broad.mit.edu	37	9	18928110	18928110	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:18928110G>A	uc003zni.1	-	4	1643	c.1365C>T	c.(1363-1365)AGC>AGT	p.S455S	FAM154A_uc010mip.1_Silent_p.S263S	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	455										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		CAGAAAGATGGCTGCTCTGCT	0.433		NaN											0	0	0	0.01441	0	51	44				
CNTNAP3	79937	broad.mit.edu	37	9	39178358	39178358	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:39178358C>G	uc004abi.2	-	5	778	c.539_splice	c.e5-1	p.K180_splice	CNTNAP3_uc004abj.2_Splice_Site_p.K180_splice|CNTNAP3_uc011lqr.1_Splice_Site|CNTNAP3_uc004abk.1_Splice_Site_p.K180_splice|CNTNAP3_uc011lqs.1_Splice_Site_p.K180_splice|CNTNAP3_uc004abl.1_Splice_Site_p.K92_splice	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor						cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCTCAGATTCTAGGAAAGAA	0.313		NaN											0	0	0	0.010771	0	32	34				
GDA	9615	broad.mit.edu	37	9	74838100	74838100	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:74838100G>A	uc004aiq.2	+	7	854	c.671G>A	c.(670-672)GGT>GAT	p.G224D	GDA_uc011lse.1_Missense_Mutation_p.G150D|GDA_uc011lsf.1_Missense_Mutation_p.G150D|GDA_uc004air.2_Missense_Mutation_p.G224D|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.G150D	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	224					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTTTGATGGGTGAACTGGGC	0.408		NaN											0	0	0	0.013537	0	8	73				
PRUNE2	158471	broad.mit.edu	37	9	79324197	79324197	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:79324197G>C	uc010mpk.2	-	8	3117	c.2993C>G	c.(2992-2994)TCA>TGA	p.S998*		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	998					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ACCATCTTTTGACTCAAAACC	0.453		NaN											0	0	0	0.00245	0	14	13				
SLC28A3	64078	broad.mit.edu	37	9	86955491	86955491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:86955491G>A	uc010mpz.2	-	1	183	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Nonsense_Mutation_p.Q20*|SLC28A3_uc010mqb.2_5'UTR	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	20	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGCTCACCTGGAAGCCCACG	0.532		NaN											0	0	0	0.003954	0	20	31				
FAM120A	23196	broad.mit.edu	37	9	96259828	96259828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:96259828C>T	uc004atw.2	+	4	905	c.880C>T	c.(880-882)CAG>TAG	p.Q294*	FAM120A_uc004atv.2_Nonsense_Mutation_p.Q294*|FAM120A_uc004atx.2_Nonsense_Mutation_p.Q76*|FAM120A_uc004aty.2_Nonsense_Mutation_p.Q76*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	294						cytoplasm|plasma membrane	RNA binding				0						ACGCAACATTCAGGACACCTC	0.433		NaN											0	0	0	0.008361	0	29	17				
NIPSNAP3A	25934	broad.mit.edu	37	9	107521388	107521388	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:107521388G>C	uc004bch.1	+	5	708	c.603G>C	c.(601-603)GAG>GAC	p.E201D	NIPSNAP3A_uc011lvt.1_Missense_Mutation_p.E201D|NIPSNAP3A_uc011lvu.1_Intron	NM_015469	NP_056284	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A	201						cytosol					0						GGTGGAATGAGAGTGCAGATA	0.388		NaN											0	0	0	0.001168	0	5	9				
TMEM38B	55151	broad.mit.edu	37	9	108457020	108457020	+	Missense_Mutation	SNP	C	C	G	rs11542697		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:108457020C>G	uc004bcu.1	+	1	196	c.79C>G	c.(79-81)CTA>GTA	p.L27V	TMEM38B_uc010mtn.1_Missense_Mutation_p.L27V	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	27	Lumenal (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						CGCGCACTATCTAGTGTCAGT	0.602		NaN											0	0	0	0.009718	0	32	71				
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900730	112900730	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:112900730G>A	uc004bei.2	+	9	3794	c.3602G>A	c.(3601-3603)AGG>AAG	p.R1201K	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R779K|AKAP2_uc011lwi.1_Missense_Mutation_p.R827K|AKAP2_uc004bem.2_Missense_Mutation_p.R827K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R787K|AKAP2_uc011lwj.1_Missense_Mutation_p.R738K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R738K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	738	Potential.						enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GAGCTGAAGAGGCAGAGACAA	0.527		NaN											0	0	0	0.001855	0	11	45				
FKBP15	23307	broad.mit.edu	37	9	115959352	115959352	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:115959352C>T	uc004bgs.2	-	9	842	c.724G>A	c.(724-726)GAG>AAG	p.E242K	FKBP15_uc010muu.1_Missense_Mutation_p.E306K|FKBP15_uc011lxd.1_Missense_Mutation_p.E174K|FKBP15_uc010mut.1_Missense_Mutation_p.E110K|FKBP15_uc004bgt.2_Missense_Mutation_p.E242K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	242	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						ATTCCATCCTCCCAGCCCTTT	0.463		NaN											0	0	0	0.003271	0	27	89				
COL27A1	85301	broad.mit.edu	37	9	117062947	117062947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:117062947C>T	uc011lxl.1	+	51	4681	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1561	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCAGGGCCCTCGGGGGCCACC	0.622		NaN											0	0	0	0.006214	0	7	21				
SPTAN1	6709	broad.mit.edu	37	9	131340465	131340465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:131340465G>T	uc004bvl.3	+	9	1275	c.1162G>T	c.(1162-1164)GAG>TAG	p.E388*	SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E388*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E400*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E388*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E388*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	388	Spectrin 5.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CAATGCAGATGAGCTTGCCAG	0.488		NaN											1	0	5.61819e-17	0.005443	6.08353e-17	21	40				
FNBP1	23048	broad.mit.edu	37	9	132658267	132658267	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:132658267C>T	uc004byw.1	-	16	1915	c.1696G>A	c.(1696-1698)GAA>AAA	p.E566K	FNBP1_uc011mbv.1_Missense_Mutation_p.E556K|FNBP1_uc011mbw.1_Missense_Mutation_p.E561K|FNBP1_uc004bza.2_Missense_Mutation_p.E500K|FNBP1_uc004byz.1_Missense_Mutation_p.E537K|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Missense_Mutation_p.E194K|FNBP1_uc004byx.1_Missense_Mutation_p.E482K|FNBP1_uc004byy.1_Missense_Mutation_p.E472K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	566	Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATCGTTCCTTCATTCTGACCT	0.448		NaN	T	MLL	AML								0	0	0	0.010818	0	23	61				
LAMC3	10319	broad.mit.edu	37	9	133948634	133948634	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:133948634G>C	uc004caa.1	+	20	3518	c.3420G>C	c.(3418-3420)GAG>GAC	p.E1140D		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1140	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTACAGGAGATTCCTCAGG	0.577		NaN											0	0	0	0.007413	0	15	33				
SARDH	1757	broad.mit.edu	37	9	136555522	136555522	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:136555522G>A	uc004cep.3	-	16	2183	c.2049C>T	c.(2047-2049)ATC>ATT	p.I683I	SARDH_uc004ceo.2_Silent_p.I683I|SARDH_uc011mdn.1_Silent_p.I683I|SARDH_uc011mdo.1_Silent_p.I515I|SARDH_uc004cen.2_Silent_p.I111I	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	683					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTGGATACTGATCATACCCA	0.652		NaN											0	0	0	0.00499	0	14	37				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:37027156C>G	uc004ddl.1	+	1	687	c.673C>G	c.(673-675)CAG>GAG	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	225										ovary(3)	3						TCTCCGCCCACAGCCTCCCAA	0.647		NaN											0	0	0	0.001168	0	5	52				
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:37027200A>C	uc004ddl.1	+	1	731	c.717A>C	c.(715-717)CCA>CCC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	239										ovary(3)	3						TGGAGCCTCCAGAGACTGGAG	0.637		NaN											0	0	0	0.004672	0	3	49				
PHF16	9767	broad.mit.edu	37	X	46913959	46913959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:46913959G>C	uc004dgx.2	+	9	1423	c.1372G>C	c.(1372-1374)GTG>CTG	p.V458L	PHF16_uc004dgy.2_Missense_Mutation_p.V458L	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	458					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						AAATGGGCTGGTGCAGCCAAA	0.433		NaN											0	0	0	0.013537	0	11	6				
PHF16	9767	broad.mit.edu	37	X	46913971	46913971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:46913971G>T	uc004dgx.2	+	9	1435	c.1384G>T	c.(1384-1386)GAG>TAG	p.E462*	PHF16_uc004dgy.2_Nonsense_Mutation_p.E462*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	462					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						GCAGCCAAAAGAGGAAAGCAT	0.443		NaN											1	0	0.00010058	0.013537	0.000102687	10	6				
PHF8	23133	broad.mit.edu	37	X	54048789	54048789	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:54048789G>A	uc004dsu.2	-	4	377	c.304C>T	c.(304-306)CGT>TGT	p.R102C	PHF8_uc004dst.2_Missense_Mutation_p.R66C|PHF8_uc004dsw.2_Missense_Mutation_p.R66C|PHF8_uc004dsy.2_Missense_Mutation_p.R66C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	102	Linker.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GAAGATCCACGGCGTTTTTTC	0.493		NaN											0	0	0	0.01441	0	43	17				
ATRX	546	broad.mit.edu	37	X	76814231	76814231	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:76814231G>A	uc004ecp.3	-	29	6645	c.6413C>T	c.(6412-6414)TCT>TTT	p.S2138F	ATRX_uc004ecq.3_Missense_Mutation_p.S2100F|ATRX_uc004eco.3_Missense_Mutation_p.S1923F	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2138	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TGGATTCCAAGAAGCGTCGAA	0.348		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.01441	0	47	22				
ODZ1	10178	broad.mit.edu	37	X	123657408	123657408	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:123657408C>G	uc004euj.2	-	17	2903	c.2839G>C	c.(2839-2841)GAG>CAG	p.E947Q	ODZ1_uc011muj.1_Missense_Mutation_p.E946Q|ODZ1_uc010nqy.2_Missense_Mutation_p.E947Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	947	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GTTCTCTTCTCAGGCAGGAAA	0.468		NaN											0	0	0	0.01441	0	39	5				
CCNL2	81669	broad.mit.edu	37	1	1325663	1325663	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:1325663C>T	uc001afi.2	-	8	985	c.953G>A	c.(952-954)GGG>GAG	p.G318E	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.G96E|CCNL2_uc001afg.1_Missense_Mutation_p.G96E|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	318					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTGTGTGCCCCCAGGCAACAG	0.572		NaN											0	0	0	1	0	22	119				
PLCH2	9651	broad.mit.edu	37	1	2435841	2435841	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2435841C>G	uc001aji.1	+	22	3714	c.3440C>G	c.(3439-3441)TCC>TGC	p.S1147C	PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.S899C|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1147					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCCTCCTCCTCCAGCATGTCA	0.662		NaN											0	0	0	1	0	8	41				
MMEL1	79258	broad.mit.edu	37	1	2541195	2541195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2541195C>T	uc001ajy.2	-	5	582	c.368G>A	c.(367-369)TGG>TAG	p.W123*	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	123	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGCCGCAGCCAGCCTCCGCA	0.607		NaN											0	0	0	1	0	18	59				
KIAA0562	9731	broad.mit.edu	37	1	3756216	3756216	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:3756216C>G	uc001aky.2	-	7	1050	c.691G>C	c.(691-693)GAT>CAT	p.D231H	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D231H	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	231	Potential.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TTGGCATAATCATAGCGTTCC	0.358		NaN											0	0	0	1	0	84	39				
NOL9	79707	broad.mit.edu	37	1	6585981	6585981	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:6585981C>G	uc001ans.2	-	12	2061	c.2042G>C	c.(2041-2043)AGA>ACA	p.R681T	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	681					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGGTTCTCTTGCTCCAAT	0.423		NaN											0	0	0	1	0	40	128				
PIK3CD	5293	broad.mit.edu	37	1	9782153	9782153	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:9782153G>C	uc001aqb.3	+	17	2384	c.2176G>C	c.(2176-2178)GAG>CAG	p.E726Q	PIK3CD_uc010oaf.1_Missense_Mutation_p.E725Q|PIK3CD_uc001aqe.3_Missense_Mutation_p.E750Q	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	726					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTACCTAGAGGCCCTCTC	0.637		NaN									OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	15	39				
VPS13D	55187	broad.mit.edu	37	1	12364770	12364770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:12364770G>C	uc001atv.2	+	26	6565	c.6424G>C	c.(6424-6426)GAG>CAG	p.E2142Q	VPS13D_uc001atw.2_Missense_Mutation_p.E2142Q|VPS13D_uc001atx.2_Missense_Mutation_p.E1330Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2142					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTGGCCAAGAGTCCAGTAG	0.522		NaN											0	0	0	1	0	39	14				
SPEN	23013	broad.mit.edu	37	1	16260296	16260296	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16260296G>A	uc001axk.1	+	11	7765	c.7561G>A	c.(7561-7563)GAC>AAC	p.D2521N	SPEN_uc010obp.1_Missense_Mutation_p.D2480N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2521	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTCCCCCAGACACAAAGGC	0.562		NaN											0	0	0	1	0	70	205				
SPEN	23013	broad.mit.edu	37	1	16262749	16262749	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16262749G>A	uc001axk.1	+	11	10218	c.10014G>A	c.(10012-10014)AAG>AAA	p.K3338K	SPEN_uc010obp.1_Silent_p.K3297K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3338	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGGACCAAGACAGCTGCTC	0.592		NaN											0	0	0	1	0	29	31				
NECAP2	55707	broad.mit.edu	37	1	16767292	16767292	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16767292C>T	uc001ayo.2	+	1	126	c.36C>T	c.(34-36)GTC>GTT	p.V12V	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Intron|NECAP2_uc001ayq.2_Silent_p.V12V	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	12					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTGTGTCAAGCCTGACG	0.627		NaN									OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	49				
PADI6	353238	broad.mit.edu	37	1	17699682	17699682	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:17699682C>A	uc001bak.1	+	2	248	c.248C>A	c.(247-249)GCC>GAC	p.A83D		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	75					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCACGTACGCCACAGTGAAG	0.597		NaN											1	0	3.45872e-05	1	3.56746e-05	17	18				
ARHGEF10L	55160	broad.mit.edu	37	1	18021748	18021748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:18021748C>T	uc001ban.2	+	28	3439	c.3280C>T	c.(3280-3282)CGG>TGG	p.R1094W	ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1055W|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1050W|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R855W|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R867W|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R797W|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R118W	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1094					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGTGCCTCGGCTGGAAGG	0.647		NaN											0	0	0	1	0	13	49				
UBR4	23352	broad.mit.edu	37	1	19436596	19436596	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:19436596C>A	uc001bbi.2	-	81	12103	c.12099G>T	c.(12097-12099)AAG>AAT	p.K4033N		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4033					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACCTTGTTCTTCTTGCTAG	0.542		NaN											1	0	1.61788e-16	1	1.78652e-16	31	87				
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22303559C>T	uc001bfk.2	+	1	142	c.27C>T	c.(25-27)CTC>CTT	p.L9L	CELA3B_uc009vqf.2_Silent_p.L8L	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	9					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						TCAGTTCCCTCCTCCTTGTGG	0.527		NaN											0	0	0	1	0	59	196				
ZBTB40	9923	broad.mit.edu	37	1	22852749	22852749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22852749G>C	uc001bft.2	+	19	4091	c.3580G>C	c.(3580-3582)GAG>CAG	p.E1194Q	ZBTB40_uc001bfu.2_Missense_Mutation_p.E1194Q|ZBTB40_uc009vqi.1_Missense_Mutation_p.E1082Q	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1194					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CACTTTGGAGGAGACCCAGCT	0.587		NaN											0	0	0	1	0	19	78				
MYOM3	127294	broad.mit.edu	37	1	24421367	24421367	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:24421367C>T	uc001bin.3	-	9	1067	c.904G>A	c.(904-906)GAG>AAG	p.E302K	MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.E302K|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	302	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGATGCTCTCAGCATCTAAC	0.577		NaN											0	0	0	1	0	9	30				
LIN28A	79727	broad.mit.edu	37	1	26752886	26752886	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:26752886C>G	uc001bmj.2	+	4	681	c.567C>G	c.(565-567)ACC>ACG	p.T189T	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	189					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						GAAAGCCAACCTACTTTCGAG	0.557		NaN											0	0	0	1	0	18	55				
PIGV	55650	broad.mit.edu	37	1	27121497	27121497	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:27121497G>C	uc001bmz.2	+	3	1303	c.972G>C	c.(970-972)CAG>CAC	p.Q324H	PIGV_uc001bmy.2_Missense_Mutation_p.Q89H|PIGV_uc009vso.2_Missense_Mutation_p.Q324H|PIGV_uc010ofg.1_Missense_Mutation_p.Q89H|PIGV_uc001bna.2_Missense_Mutation_p.Q324H	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	324	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCTCAAGCAGGTGCCCAATT	0.488		NaN											0	0	0	1	0	45	202				
COL16A1	1307	broad.mit.edu	37	1	32140871	32140871	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:32140871G>A	uc001btk.1	-	43	3179	c.2814C>T	c.(2812-2814)CTC>CTT	p.L938L	COL16A1_uc001btj.1_Silent_p.L751L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	938	Triple-helical region 4 (COL4) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTTCTGCAGTGAGCCCAGGCT	0.617		NaN											0	0	0	1	0	11	15				
KIAA1522	57648	broad.mit.edu	37	1	33237530	33237530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:33237530C>G	uc001bvv.2	+	6	2709	c.2573C>G	c.(2572-2574)TCA>TGA	p.S858*	KIAA1522_uc001bvu.1_Nonsense_Mutation_p.S917*|KIAA1522_uc010ohm.1_Nonsense_Mutation_p.S869*|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	858	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGGCCCTGTCAGGGCGGGCC	0.706		NaN											0	0	0	1	0	4	14				
CSF3R	1441	broad.mit.edu	37	1	36932897	36932897	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:36932897G>T	uc001caw.1	-	16	2152	c.1974C>A	c.(1972-1974)CTC>CTA	p.L658L	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Silent_p.L220L|CSF3R_uc009vvc.1_Silent_p.L187L|CSF3R_uc001cau.1_Silent_p.L58L|CSF3R_uc001cav.1_Silent_p.L658L|CSF3R_uc001cax.1_Silent_p.L658L|CSF3R_uc001cay.1_Missense_Mutation_p.S627Y	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	658	Box 1 motif.|Cytoplasmic (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTTGGCCAGAGGGGATTCT	0.587		NaN											1	0	2.47872e-24	1	2.78548e-24	38	35				
EPHA10	284656	broad.mit.edu	37	1	38192853	38192853	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38192853C>T	uc009vvi.2	-	8	1779	c.1693G>A	c.(1693-1695)GCC>ACC	p.A565T	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	565	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGACAATGGCGGGGCTCTGG	0.642		NaN											0	0	0	1	0	7	22				
EPHA10	284656	broad.mit.edu	37	1	38227612	38227612	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38227612C>T	uc009vvi.2	-	3	401	c.315G>A	c.(313-315)CTG>CTA	p.L105L	EPHA10_uc001cbw.3_Silent_p.L105L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	105	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGTGAACTGCAGTTCCACGA	0.617		NaN											0	0	0	1	0	71	57				
ZNF642	339559	broad.mit.edu	37	1	40961190	40961190	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:40961190G>A	uc001cfo.2	+	6	1334	c.1040G>A	c.(1039-1041)AGA>AAA	p.R347K	ZNF642_uc009vwb.2_Missense_Mutation_p.R347K|ZNF642_uc010ojk.1_Missense_Mutation_p.R348K	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	347	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CAGCATCATAGAACTCACACT	0.433		NaN											0	0	0	1	0	25	71				
EBNA1BP2	10969	broad.mit.edu	37	1	43630326	43630326	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:43630326C>G	uc001cin.2	-	8	1055	c.858G>C	c.(856-858)AAG>AAC	p.K286N	EBNA1BP2_uc001cio.2_Missense_Mutation_p.K341N|EBNA1BP2_uc001cim.2_Missense_Mutation_p.K181N|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.K341N	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	286					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGACCCTTTCTTGCCAGGCC	0.572		NaN											0	0	0	1	0	33	20				
ARTN	9048	broad.mit.edu	37	1	44401357	44401357	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44401357C>T	uc001cks.2	+	3	811	c.29C>T	c.(28-30)ACG>ATG	p.T10M	ARTN_uc001ckv.2_Missense_Mutation_p.T10M|ARTN_uc001ckt.2_Missense_Mutation_p.T10M|ARTN_uc001cku.2_Missense_Mutation_p.T10M|ARTN_uc001ckw.2_5'Flank	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN	neurotrophic factor artemin isoform 1 precursor	10					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGCCTCTCCACGCTGTCCCAC	0.597		NaN											0	0	0	1	0	7	13				
IPO13	9670	broad.mit.edu	37	1	44422329	44422329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44422329G>T	uc001ckx.2	+	4	1855	c.1060G>T	c.(1060-1062)GAG>TAG	p.E354*		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	354	HEAT 5.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCCTGTCAATGAGACCACCAG	0.547		NaN											1	0	1.49673e-21	1	1.67272e-21	39	69				
IPO13	9670	broad.mit.edu	37	1	44424502	44424502	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44424502G>A	uc001ckx.2	+	11	2764	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	657	HEAT 11.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CAGTCATCATGAGGATGATCA	0.547		NaN											0	0	0	1	0	24	39				
STIL	6491	broad.mit.edu	37	1	47717130	47717130	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:47717130G>A	uc001crc.1	-	17	3697	c.3542C>T	c.(3541-3543)TCT>TTT	p.S1181F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1135F|STIL_uc010omo.1_Missense_Mutation_p.S1164F|STIL_uc001crd.1_Missense_Mutation_p.S1182F|STIL_uc001cre.1_Missense_Mutation_p.S1181F	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1181					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCACAGTTAGAACAATTAAT	0.373		NaN											0	0	0	1	0	36	66				
FAF1	11124	broad.mit.edu	37	1	50956338	50956338	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:50956338C>G	uc009vyx.1	-	18	1639	c.1576_splice	c.e18-1	p.R526_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.R526_splice|FAF1_uc010onc.1_Splice_Site_p.R284_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1						apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GAGCTTCCCTCTGTTGATAAA	0.308		NaN											0	0	0	1	0	34	74				
C1orf168	199920	broad.mit.edu	37	1	57192183	57192183	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:57192183C>G	uc001cym.3	-	16	2273	c.1867G>C	c.(1867-1869)GAA>CAA	p.E623Q	C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	623										ovary(3)|skin(2)	5						TCTGATTCTTCAGCACCGTTT	0.299		NaN											0	0	0	1	0	20	67				
TACSTD2	4070	broad.mit.edu	37	1	59042168	59042168	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:59042168C>A	uc001cyz.3	-	1	999	c.661G>T	c.(661-663)GAT>TAT	p.D221Y		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	221	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					TAGGCGGCATCGCCGATATCC	0.652		NaN											1	0	8.12818e-05	1	8.34986e-05	7	14				
JAK1	3716	broad.mit.edu	37	1	65316594	65316594	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:65316594C>T	uc001dbu.1	-	12	1898	c.1649_splice	c.e12-1	p.E550_splice	JAK1_uc009wam.1_Splice_Site_p.E538_splice	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTGGAGATTTCTGTGGAAGAG	0.597		NaN	Mis		ALL								0	0	0	1	0	5	14				
SLC35D1	23169	broad.mit.edu	37	1	67518490	67518490	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:67518490G>C	uc001ddk.2	-	3	672	c.288C>G	c.(286-288)GTC>GTG	p.V96V	SLC35D1_uc010oph.1_Silent_p.V17V	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	96					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	CAGGAAACTTGACTACTCTGA	0.393		NaN											0	0	0	1	0	62	44				
CRYZ	1429	broad.mit.edu	37	1	75188928	75188928	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:75188928A>T	uc001dgk.2	-	4	643	c.138T>A	c.(136-138)GGT>GGA	p.G46G	CRYZ_uc001dgj.2_Silent_p.G46G|CRYZ_uc001dgl.2_Silent_p.G46G|CRYZ_uc001dgm.2_5'UTR	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	46					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	CGGGGTTGACACCACATGCAT	0.378		NaN											0	0	0	1	0	64	38				
LMO4	8543	broad.mit.edu	37	1	87805743	87805743	+	Missense_Mutation	SNP	C	C	T	rs139269304		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:87805743C>T	uc001dmi.2	+	4	1127	c.347C>T	c.(346-348)TCT>TTT	p.S116F	LMO4_uc001dmj.2_Missense_Mutation_p.S116F	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	116	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TTTACATGCTCTACCTGCCGG	0.403		NaN											0	0	0	1	0	55	45				
RPAP2	79871	broad.mit.edu	37	1	92767046	92767046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:92767046G>C	uc001dot.2	+	3	242	c.133G>C	c.(133-135)GAA>CAA	p.E45Q	RPAP2_uc009wdh.2_RNA|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	45	Potential.					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCTGAACTAGAAGCAGCTGT	0.328		NaN											0	0	0	1	0	17	24				
ABCA4	24	broad.mit.edu	37	1	94473258	94473258	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94473258T>G	uc001dqh.2	-	43	6041	c.5937A>C	c.(5935-5937)ACA>ACC	p.T1979T	ABCA4_uc001dqi.1_Silent_p.T98T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1979	ABC transporter 2.|Cytoplasmic.|ATP 2 (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAATGTGGTTGTTTTGCCGG	0.547		NaN											0	0	0	1	0	20	44				
ABCD3	5825	broad.mit.edu	37	1	94941201	94941201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94941201G>C	uc001dqn.3	+	7	637	c.535G>C	c.(535-537)GAC>CAC	p.D179H	ABCD3_uc001dqm.3_Missense_Mutation_p.D179H|ABCD3_uc010oto.1_Missense_Mutation_p.D203H|ABCD3_uc010otp.1_Missense_Mutation_p.D106H|ABCD3_uc009wdr.2_Missense_Mutation_p.D179H	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	179	ABC transmembrane type-1.|Interaction with PEX19.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGGGAATCTGGACAACAGAAT	0.303		NaN											0	0	0	1	0	16	22				
COL11A1	1301	broad.mit.edu	37	1	103488306	103488306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:103488306C>T	uc001dul.2	-	8	1555	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E425K|COL11A1_uc001dun.2_Missense_Mutation_p.E374K|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	413	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.F413V(1)		ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGCTTGTTTCTGTAATATCA	0.328		NaN											0	0	0	1	0	26	45				
KIAA1324	57535	broad.mit.edu	37	1	109715160	109715160	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715160G>T	uc001dwq.2	+	6	802	c.666G>T	c.(664-666)AAG>AAT	p.K222N	KIAA1324_uc009wex.1_Missense_Mutation_p.K222N|KIAA1324_uc009wey.2_Missense_Mutation_p.K222N|KIAA1324_uc010ovg.1_Missense_Mutation_p.K120N	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	222	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGTGGATGAAGACCACAGAGA	0.502		NaN											1	0	0.0477658	1	0.0479071	8	30				
KIAA1324	57535	broad.mit.edu	37	1	109715167	109715167	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715167G>A	uc001dwq.2	+	6	809	c.673G>A	c.(673-675)GAG>AAG	p.E225K	KIAA1324_uc009wex.1_Missense_Mutation_p.E225K|KIAA1324_uc009wey.2_Missense_Mutation_p.E225K|KIAA1324_uc010ovg.1_Missense_Mutation_p.E123K	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	225	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAAGACCACAGAGAAAGGATG	0.512		NaN											0	0	0	1	0	9	30				
AMPD2	271	broad.mit.edu	37	1	110163738	110163738	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110163738G>A	uc009wfh.1	+	2	645	c.103G>A	c.(103-105)GAG>AAG	p.E35K	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Missense_Mutation_p.E35K|AMPD2_uc010ovr.1_Silent_p.Q3Q|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	35					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGATGTGGCAGAGCCAGGCCC	0.687		NaN											0	0	0	1	0	4	4				
AMPD2	271	broad.mit.edu	37	1	110169425	110169425	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110169425G>C	uc009wfh.1	+	7	1313	c.771G>C	c.(769-771)CTG>CTC	p.L257L	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.L176L|AMPD2_uc001dyc.1_Silent_p.L257L|AMPD2_uc010ovr.1_Silent_p.L182L|AMPD2_uc010ovs.1_Silent_p.L139L|AMPD2_uc001dyd.1_Silent_p.L138L|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	257					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACATGGCCCTGTCCCTGCAGA	0.622		NaN											0	0	0	1	0	10	46				
PTPN22	26191	broad.mit.edu	37	1	114402061	114402061	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:114402061T>C	uc001eds.2	-	2	239	c.109A>G	c.(109-111)AAG>GAG	p.K37E	uc001edv.1_Intron|PTPN22_uc009wgq.2_Missense_Mutation_p.K37E|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Missense_Mutation_p.K37E|PTPN22_uc009wgr.2_Missense_Mutation_p.K37E|PTPN22_uc009wgs.2_Missense_Mutation_p.K37E|PTPN22_uc001edu.2_Missense_Mutation_p.K37E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	37	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTGTACTTGGTAGATTGC	0.363		NaN											0	0	0	1	0	65	37				
TTF2	8458	broad.mit.edu	37	1	117617798	117617798	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:117617798G>C	uc001egy.2	+	5	612	c.592G>C	c.(592-594)GAG>CAG	p.E198Q	TTF2_uc001egx.1_Missense_Mutation_p.E198Q	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	198					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAAGCAAGAAGAGGGAGCAGA	0.418		NaN											0	0	0	1	0	18	54				
FAM46C	54855	broad.mit.edu	37	1	118166265	118166265	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:118166265G>C	uc001ehe.2	+	2	974	c.775G>C	c.(775-777)GAC>CAC	p.D259H		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	259											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGGCCCACAGACCAGGAAGA	0.512		NaN								Multiple Myeloma(3;1.13e-06)			0	0	0	1	0	16	52				
NOTCH2	4853	broad.mit.edu	37	1	120539792	120539792	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539792C>T	uc001eik.2	-	4	835	c.579G>A	c.(577-579)CAG>CAA	p.Q193Q	NOTCH2_uc001eil.2_Silent_p.Q193Q|NOTCH2_uc001eim.3_Silent_p.Q110Q	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	193	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCACCATGCTGGCAGTGTC	0.567		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	1	0	13	103				
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539834A>G	uc001eik.2	-	4	793	c.537T>C	c.(535-537)TGT>TGC	p.C179C	NOTCH2_uc001eil.2_Silent_p.C179C|NOTCH2_uc001eim.3_Silent_p.C96C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	179	Extracellular (Potential).|EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	1	0	15	116				
PRKAB2	5565	broad.mit.edu	37	1	146639436	146639436	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639436G>T	uc001epe.2	-	3	378	c.233C>A	c.(232-234)CCC>CAC	p.P78H	PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.P78H	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	78					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GATAACAGTGGGCCGGGCCTG	0.527		NaN											1	0	2.48941e-46	1	2.82244e-46	92	166				
PRKAB2	5565	broad.mit.edu	37	1	146639438	146639438	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639438C>T	uc001epe.2	-	3	376	c.231G>A	c.(229-231)CGG>CGA	p.R77R	PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Silent_p.R77R	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	77					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TAACAGTGGGCCGGGCCTGCT	0.522		NaN											0	0	0	1	0	90	161				
PLEKHO1	51177	broad.mit.edu	37	1	150129184	150129184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150129184G>A	uc001ett.2	+	4	676	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	133	Interaction with capping proteins (CPs).			R->E: No effect on binding to capping proteins; when associated with E-135.|R->A: No effect on binding to capping proteins and loss of phospholipid binding; when associated with A-135 and A-137.		cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCACCCGAGCCAAGAAC	0.587		NaN											0	0	0	1	0	11	77				
APH1A	51107	broad.mit.edu	37	1	150240428	150240428	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150240428G>A	uc001ety.1	-	2	535	c.213C>T	c.(211-213)CTC>CTT	p.L71L	APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Silent_p.L71L|APH1A_uc001eua.1_Silent_p.L71L|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	anterior pharynx defective 1 homolog A isoform	71	Helical; Name=3; (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			ovary(1)|lung(1)	2	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAAATCAGGAGGCCGTACT	0.557		NaN											0	0	0	1	0	20	115				
HORMAD1	84072	broad.mit.edu	37	1	150689625	150689625	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150689625C>G	uc001evk.1	-	3	273	c.167G>C	c.(166-168)AGA>ACA	p.R56T	HORMAD1_uc001evl.1_Missense_Mutation_p.R56T|HORMAD1_uc001evm.1_Missense_Mutation_p.K6N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	56	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTAGATATCTTGTTCCATA	0.318		NaN											0	0	0	1	0	25	127				
SEMA6C	10500	broad.mit.edu	37	1	151108989	151108989	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:151108989G>C	uc001ewu.2	-	12	1341	c.1041C>G	c.(1039-1041)TTC>TTG	p.F347L	SEMA6C_uc001ewv.2_Missense_Mutation_p.F347L|SEMA6C_uc001eww.2_Missense_Mutation_p.F307L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F347L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	347	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTCCTTGAACTTGCCCT	0.567		NaN											0	0	0	1	0	43	204				
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152279938C>G	uc001ezu.1	-	3	7460	c.7424G>C	c.(7423-7425)GGA>GCA	p.G2475A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577		NaN							Ichthyosis				0	0	0	1	0	136	337				
FLG	2312	broad.mit.edu	37	1	152281452	152281452	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152281452A>T	uc001ezu.1	-	3	5946	c.5910T>A	c.(5908-5910)TCT>TCA	p.S1970S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.557		NaN							Ichthyosis				0	0	0	1	0	106	569				
FLG	2312	broad.mit.edu	37	1	152283396	152283396	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152283396A>T	uc001ezu.1	-	3	4002	c.3966T>A	c.(3964-3966)TCT>TCA	p.S1322S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1322	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.358		NaN							Ichthyosis				0	0	0	1	0	14	302				
S100A8	6279	broad.mit.edu	37	1	153362985	153362985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153362985C>G	uc001fbs.2	-	2	82	c.27G>C	c.(25-27)TTG>TTC	p.L9F		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	9					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATAGAGTTCAAGGCTTTCT	0.507		NaN											0	0	0	1	0	53	223				
ILF2	3608	broad.mit.edu	37	1	153638142	153638142	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153638142C>T	uc001fcr.2	-	7	538	c.457G>A	c.(457-459)GAA>AAA	p.E153K	ILF2_uc010pdy.1_Missense_Mutation_p.E115K|ILF2_uc009wok.2_Intron|ILF2_uc009wol.1_Missense_Mutation_p.E115K	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	153	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAAACCTTCAGAAGGATCC	0.388		NaN											0	0	0	1	0	8	145				
FDPS	2224	broad.mit.edu	37	1	155288696	155288696	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155288696C>G	uc001fkc.2	+	8	1042	c.823C>G	c.(823-825)CCT>GCT	p.P275A	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.P209A|FDPS_uc001fke.2_Missense_Mutation_p.P275A|FDPS_uc001fkf.2_Missense_Mutation_p.P209A|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	275					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTTCTACCTTCCTATAGCTGC	0.498		NaN											0	0	0	1	0	70	86				
ASH1L	55870	broad.mit.edu	37	1	155448304	155448304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155448304G>C	uc009wqq.2	-	3	4837	c.4357C>G	c.(4357-4359)CTT>GTT	p.L1453V	ASH1L_uc001fkt.2_Missense_Mutation_p.L1453V|ASH1L_uc009wqr.1_Missense_Mutation_p.L1453V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1453					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGGTTGTAAGAAAGGCCTCC	0.493		NaN											0	0	0	1	0	26	112				
BCAN	63827	broad.mit.edu	37	1	156622477	156622477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:156622477C>T	uc001fpp.2	+	8	2071	c.1735C>T	c.(1735-1737)CGA>TGA	p.R579*	BCAN_uc001fpo.2_Nonsense_Mutation_p.R579*	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	579					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGGTCCCTCGAGGAGAGAG	0.642		NaN											0	0	0	1	0	24	32				
SPTA1	6708	broad.mit.edu	37	1	158615287	158615287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158615287G>A	uc001fst.1	-	28	4193	c.3994C>T	c.(3994-3996)CAG>TAG	p.Q1332*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1332	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGTTTTACCTGATGTCTCTCC	0.448		NaN											0	0	0	1	0	43	74				
OR6N1	128372	broad.mit.edu	37	1	158735776	158735776	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158735776C>A	uc010piq.1	-	1	697	c.697G>T	c.(697-699)GGC>TGC	p.G233C		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TTCCTCTTGCCGGCAGCTGAG	0.498		NaN											1	0	3.62531e-18	1	4.02504e-18	32	104				
OR10J1	26476	broad.mit.edu	37	1	159409997	159409997	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159409997G>C	uc010piv.1	+	1	449	c.449G>C	c.(448-450)AGG>ACG	p.R150T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	150	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					ATGAACAAGAGGCTGCGTATC	0.488		NaN											0	0	0	1	0	11	155				
CCDC19	25790	broad.mit.edu	37	1	159857685	159857685	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159857685C>G	uc001fui.2	-	5	552	c.534G>C	c.(532-534)CAG>CAC	p.Q178H	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.Q93H|CCDC19_uc001ful.2_Missense_Mutation_p.Q93H|CCDC19_uc009wtc.1_Missense_Mutation_p.Q178H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	178	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGTTGGCTCTCTGCAGGAGGT	0.552		NaN											0	0	0	1	0	94	101				
PIGM	93183	broad.mit.edu	37	1	160000857	160000857	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160000857G>C	uc001fuv.1	-	1	927	c.673C>G	c.(673-675)CGG>GGG	p.R225G		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	225	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACAGCCCGATTACACAGC	0.488		NaN											0	0	0	1	0	35	127				
ATP1A2	477	broad.mit.edu	37	1	160098576	160098576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160098576G>A	uc001fvc.2	+	9	1284	c.1152G>A	c.(1150-1152)ATG>ATA	p.M384I	ATP1A2_uc001fvb.2_Missense_Mutation_p.M384I|ATP1A2_uc010piz.1_Missense_Mutation_p.M229I|ATP1A2_uc001fvd.2_Missense_Mutation_p.M120I|ATP1A2_uc009wtg.1_Missense_Mutation_p.M72I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	384	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACCGCATGACCGTCGCCC	0.592		NaN											0	0	0	1	0	28	73				
LY9	4063	broad.mit.edu	37	1	160766040	160766040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160766040G>A	uc001fwu.2	+	1	113	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	LY9_uc001fwt.2_Silent_p.Q21Q|LY9_uc010pjs.1_Silent_p.Q21Q|LY9_uc001fwv.2_Silent_p.Q21Q|LY9_uc001fww.2_Silent_p.Q21Q|LY9_uc001fwx.2_Silent_p.Q21Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	21					cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTAAGCCACAGAGGAGTCAGC	0.498		NaN											0	0	0	1	0	29	112				
LY9	4063	broad.mit.edu	37	1	160794037	160794037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160794037C>G	uc001fwu.2	+	9	1947	c.1897C>G	c.(1897-1899)CAG>GAG	p.Q633E	LY9_uc001fwv.2_Missense_Mutation_p.Q619E|LY9_uc001fww.2_Missense_Mutation_p.Q543E|LY9_uc001fwx.2_Intron|LY9_uc001fwz.2_Intron	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	633	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACGGAAACCTCAGGTGGTGAG	0.488		NaN											0	0	0	1	0	22	101				
HSD17B7	51478	broad.mit.edu	37	1	162767598	162767598	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:162767598G>A	uc001gci.2	+	4	434	c.339G>A	c.(337-339)GTG>GTA	p.V113V	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	113	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	TCAGAAAAGTGATTCATATGT	0.433		NaN											0	0	0	1	0	5	35				
GPA33	10223	broad.mit.edu	37	1	167024974	167024974	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:167024974G>C	uc001gea.1	-	5	1028	c.684C>G	c.(682-684)GTC>GTG	p.V228V		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	228	Extracellular (Potential).					integral to plasma membrane	receptor activity				0						TACGAGATCTGACGGCCACCG	0.557		NaN											0	0	0	1	0	19	78				
DCAF6	55827	broad.mit.edu	37	1	168035698	168035698	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:168035698G>C	uc001gew.2	+	17	2649	c.2407G>C	c.(2407-2409)GAT>CAT	p.D803H	DCAF6_uc001gev.2_Missense_Mutation_p.D823H|DCAF6_uc001gex.2_Missense_Mutation_p.D894H|DCAF6_uc010plk.1_Missense_Mutation_p.D863H|DCAF6_uc001gey.2_Missense_Mutation_p.D676H|DCAF6_uc001gez.2_Missense_Mutation_p.D106H	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	803					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AAAACTTGCTGATGAAGTAAG	0.289		NaN											0	0	0	1	0	4	55				
C1orf156	92342	broad.mit.edu	37	1	169762167	169762167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:169762167C>G	uc001ggn.2	-	2	948	c.670G>C	c.(670-672)GAT>CAT	p.D224H	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	224						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTACTTCATCAATCACCATA	0.373		NaN											0	0	0	1	0	35	173				
BAT2L2	23215	broad.mit.edu	37	1	171482304	171482304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171482304G>C	uc010pmg.1	+	3	543	c.277G>C	c.(277-279)GAA>CAA	p.E93Q	BAT2L2_uc001ghq.1_Missense_Mutation_p.E95Q|BAT2L2_uc001ghr.1_Missense_Mutation_p.E95Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	93							protein C-terminus binding				0						GCAACATGAAGAAGAAAAGTG	0.398		NaN											0	0	0	1	0	7	26				
BAT2L2	23215	broad.mit.edu	37	1	171501557	171501557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171501557G>C	uc010pmg.1	+	12	1590	c.1324G>C	c.(1324-1326)GAT>CAT	p.D442H	BAT2L2_uc001ghr.1_Missense_Mutation_p.D444H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	442							protein C-terminus binding				0						AGCTGATGAAGATGAAATATG	0.473		NaN											0	0	0	1	0	10	29				
MYOC	4653	broad.mit.edu	37	1	171621212	171621212	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171621212C>T	uc001ghu.2	-	1	562	c.540G>A	c.(538-540)CTG>CTA	p.L180L	MYOC_uc010pmk.1_Silent_p.L122L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	180	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCCCCTTCTCAGCCTTGCTA	0.562		NaN											0	0	0	1	0	82	275				
SLC9A11	284525	broad.mit.edu	37	1	173523900	173523900	+	Nonsense_Mutation	SNP	G	G	C	rs138213092		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:173523900G>C	uc001giz.2	-	11	1692	c.1269C>G	c.(1267-1269)TAC>TAG	p.Y423*	SLC9A11_uc009wwe.2_Intron|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	423	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GAGTCATCACGTATGAATTTA	0.328		NaN											0	0	0	1	0	27	135				
TNR	7143	broad.mit.edu	37	1	175375427	175375427	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:175375427C>G	uc001gkp.1	-	1	505	c.424G>C	c.(424-426)GAG>CAG	p.E142Q	TNR_uc009wwu.1_Missense_Mutation_p.E142Q|TNR_uc010pmz.1_Missense_Mutation_p.E142Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	142	Potential.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TCCAGCATCTCGATCCGGCTC	0.602		NaN											0	0	0	1	0	20	76				
RALGPS2	55103	broad.mit.edu	37	1	178848093	178848093	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:178848093G>C	uc001glz.2	+	10	1140	c.802G>C	c.(802-804)GAA>CAA	p.E268Q	RALGPS2_uc001gly.1_Missense_Mutation_p.E268Q|RALGPS2_uc010pnb.1_Missense_Mutation_p.E268Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	268	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						GTATATAGAAGAACTACAAAA	0.338		NaN											0	0	0	1	0	10	32				
SMG7	9887	broad.mit.edu	37	1	183515224	183515224	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:183515224G>C	uc001gqg.2	+	17	2616	c.2494G>C	c.(2494-2496)GAG>CAG	p.E832Q	SMG7_uc010pob.1_Missense_Mutation_p.E815Q|SMG7_uc001gqf.2_Missense_Mutation_p.E786Q|SMG7_uc001gqh.2_Missense_Mutation_p.E786Q|SMG7_uc001gqi.2_Missense_Mutation_p.E744Q|SMG7_uc010poc.1_Missense_Mutation_p.E790Q	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	832	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAAACTGTTTGAGCCGTCATT	0.463		NaN											0	0	0	1	0	16	55				
EDEM3	80267	broad.mit.edu	37	1	184686740	184686740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:184686740G>C	uc010pok.1	-	12	1440	c.1179C>G	c.(1177-1179)TTC>TTG	p.F393L	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.F393L	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	393					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						AGTGTACTCTGAAATCTGTGG	0.294		NaN											0	0	0	1	0	7	18				
HMCN1	83872	broad.mit.edu	37	1	186083224	186083224	+	Missense_Mutation	SNP	G	G	T	rs138705216	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:186083224G>T	uc001grq.1	+	73	11474	c.11245G>T	c.(11245-11247)GAT>TAT	p.D3749Y		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3749	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATGGAGAAAGGATGGAGCTGT	0.388		NaN											1	0	9.8876e-21	1	1.10381e-20	38	35				
F13B	2165	broad.mit.edu	37	1	197019986	197019986	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:197019986G>A	uc001gtt.1	-	10	1623	c.1579C>T	c.(1579-1581)CCT>TCT	p.P527S		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	527	Sushi 9.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATAAGAGGAGGAGATGTGCAC	0.313		NaN											0	0	0	1	0	16	21				
CAMSAP1L1	23271	broad.mit.edu	37	1	200708985	200708985	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:200708985G>C	uc001gvl.2	+	1	300	c.30G>C	c.(28-30)ATG>ATC	p.M10I	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.M10I|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.M10I	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	10						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CCAGGGAGATGAGAAAGACGT	0.592		NaN											0	0	0	1	0	7	14				
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:203276294C>G	uc001gzq.2	+	2	276	c.205C>G	c.(205-207)CGC>GGC	p.R69G	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	69					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612		NaN											0	0	0	1	0	15	19		Valid		
PIK3C2B	5287	broad.mit.edu	37	1	204400860	204400860	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204400860A>G	uc001haw.2	-	29	4696	c.4217T>C	c.(4216-4218)TTT>TCT	p.F1406S	PIK3C2B_uc010pqv.1_Missense_Mutation_p.F1378S	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1406	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAACTCCTCAAAGGTCCGCTG	0.527		NaN									OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	7	134				
PIK3C2B	5287	broad.mit.edu	37	1	204438084	204438084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204438084G>A	uc001haw.2	-	3	1326	c.847C>T	c.(847-849)CAG>TAG	p.Q283*	PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc001hax.1_Nonsense_Mutation_p.Q283*|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	283	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGGCACCTGAGGGGGCATA	0.642		NaN											0	0	0	1	0	23	79				
INTS7	25896	broad.mit.edu	37	1	212120009	212120009	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:212120009C>T	uc001hiw.1	-	18	2460	c.2355G>A	c.(2353-2355)CTG>CTA	p.L785L	INTS7_uc009xdb.1_Intron|INTS7_uc001hix.1_Silent_p.L661L|INTS7_uc001hiy.1_Silent_p.L771L|INTS7_uc010pta.1_Silent_p.L736L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	785					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGGGAACTTTCAGCAAAGCAA	0.343		NaN											0	0	0	1	0	41	25				
PTPN14	5784	broad.mit.edu	37	1	214542945	214542945	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:214542945C>T	uc001hkk.1	-	17	3397	c.3126G>A	c.(3124-3126)ACG>ACA	p.T1042T		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1042	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCGAAACTTCGTGGTGACCT	0.488		NaN											0	0	0	1	0	67	153				
IARS2	55699	broad.mit.edu	37	1	220273958	220273958	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:220273958C>G	uc001hmc.2	+	3	621	c.517C>G	c.(517-519)CAG>GAG	p.Q173E		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	173					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TAGAGAAGCTCAGAATCTTTC	0.348		NaN											0	0	0	1	0	10	37				
FAM177B	400823	broad.mit.edu	37	1	222923383	222923383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:222923383G>A	uc001hnt.2	+	6	726	c.460G>A	c.(460-462)GAG>AAG	p.E154K	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	154										ovary(1)	1						GGATGTGACAGAGGCCATTCC	0.522		NaN											0	0	0	1	0	14	53				
CNIH3	149111	broad.mit.edu	37	1	224804936	224804936	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:224804936C>T	uc001hos.1	+	1	758	c.60C>T	c.(58-60)CTC>CTT	p.L20L		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	20	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GCGCTGCGCTCATCTTCTTCG	0.557		NaN											0	0	0	1	0	37	178				
WNT3A	89780	broad.mit.edu	37	1	228210569	228210569	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228210569C>T	uc001hrq.1	+	2	351	c.273C>T	c.(271-273)GTC>GTT	p.V91V	WNT3A_uc001hrp.1_Silent_p.V91V	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	91					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				GCACCACCGTCCACGACAGCC	0.642		NaN											0	0	0	1	0	21	27				
OBSCN	84033	broad.mit.edu	37	1	228558384	228558384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228558384C>G	uc009xez.1	+	93	20215	c.20171C>G	c.(20170-20172)TCC>TGC	p.S6724C	OBSCN_uc001hsr.1_Missense_Mutation_p.S1353C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6724					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCCAGAAATCCATGCCTGCG	0.632		NaN											0	0	0	1	0	18	26				
CAPN9	10753	broad.mit.edu	37	1	230937333	230937333	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:230937333G>T	uc001htz.1	+	20	2177	c.2064G>T	c.(2062-2064)ATG>ATT	p.M688I	CAPN9_uc009xfg.1_Missense_Mutation_p.M625I|CAPN9_uc001hua.1_Missense_Mutation_p.M662I	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	688	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTTGACAATGAACATCTGAG	0.532		NaN											1	0	1.22574e-08	1	1.29716e-08	22	63				
SIPA1L2	57568	broad.mit.edu	37	1	232564265	232564265	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232564265C>G	uc001hvg.2	-	15	4460	c.4302G>C	c.(4300-4302)CAG>CAC	p.Q1434H	SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q508H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1434					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCACCACTGTCTGATGCTGAG	0.443		NaN											0	0	0	1	0	27	46				
SIPA1L2	57568	broad.mit.edu	37	1	232650028	232650028	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232650028T>C	uc001hvg.2	-	1	1216	c.1058A>G	c.(1057-1059)AAA>AGA	p.K353R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	353					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTTTTTCCTTTTCCCCACATT	0.493		NaN											0	0	0	1	0	20	87				
LYST	1130	broad.mit.edu	37	1	235887452	235887453	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:235887452_235887453GA>TT	uc001hxj.2	-	39	9365_9366	c.9190_9191TC>AA	c.(9190-9192)TCA>AAA	p.S3064K	LYST_uc001hxi.2_Missense_Mutation_p.S288K	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3064					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAGGAAAATGATGCTGGTTCC	0.317		NaN							Chediak-Higashi_syndrome				0	0	0	1	0	14	161				
ACTN2	88	broad.mit.edu	37	1	236899015	236899015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:236899015G>A	uc001hyf.2	+	8	982	c.778G>A	c.(778-780)GAG>AAG	p.E260K	ACTN2_uc001hyg.2_Missense_Mutation_p.E15K|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	260					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCGGGCGCGGAGCAGGTACT	0.498		NaN											0	0	0	1	0	26	15				
FH	2271	broad.mit.edu	37	1	241663871	241663871	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241663871G>A	uc001hyx.2	-	9	1288	c.1256C>T	c.(1255-1257)TCA>TTA	p.S419L		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	419					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.323		NaN	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				0	0	0	1	0	51	24				
KMO	8564	broad.mit.edu	37	1	241714300	241714300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241714300C>G	uc009xgp.2	+	4	333	c.268C>G	c.(268-270)CTT>GTT	p.L90V	KMO_uc001hyy.2_Missense_Mutation_p.L90V|KMO_uc009xgo.1_Missense_Mutation_p.L90V	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	90					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATCCACTCTCTTTCAGGAAA	0.398		NaN											0	0	0	1	0	51	101				
ITIH2	3698	broad.mit.edu	37	10	7786827	7786827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:7786827C>G	uc001ijs.2	+	19	2644	c.2482C>G	c.(2482-2484)CTT>GTT	p.L828V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	828					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						TTCTGTTTTACTTCATCGTGT	0.423		NaN											0	0	0	1	0	12	86				
CELF2	10659	broad.mit.edu	37	10	11047353	11047353	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:11047353G>T	uc001iki.3	+	1	95	c.3G>T	c.(1-3)ATG>ATT	p.M1I	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.M1I	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	1	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						ATAGAAGCATGCGCTGTCCCA	0.393		NaN											1	0	1.15505e-17	1	1.27961e-17	38	216				
FRMD4A	55691	broad.mit.edu	37	10	13698952	13698952	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:13698952G>C	uc001ims.2	-	22	2989	c.2637C>G	c.(2635-2637)TTC>TTG	p.F879L	FRMD4A_uc009xjf.1_Missense_Mutation_p.F879L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	879						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						AGCTCTCCTTGAACAGGCCGC	0.716		NaN											0	0	0	1	0	8	14				
HSPA14	51182	broad.mit.edu	37	10	14909867	14909867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14909867G>C	uc001inf.2	+	12	1480	c.1339G>C	c.(1339-1341)GAT>CAT	p.D447H		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	447					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						CTATGAGTCTGATGGGAAGAA	0.433		NaN											0	0	0	1	0	22	103				
DCLRE1C	64421	broad.mit.edu	37	10	14995952	14995952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14995952C>G	uc001inn.2	-	1	143	c.58G>C	c.(58-60)GAT>CAT	p.D20H	DCLRE1C_uc010qbx.1_Missense_Mutation_p.D20H|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	20					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						TTCTCCCTATCGAAGCGGTCT	0.647		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					0	0	0	1	0	22	95				
NMT2	9397	broad.mit.edu	37	10	15154865	15154865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:15154865G>C	uc001inz.1	-	10	1352	c.1268C>G	c.(1267-1269)TCA>TGA	p.S423*	NMT2_uc001ioa.1_Nonsense_Mutation_p.S410*|NMT2_uc009xjo.1_Nonsense_Mutation_p.S423*|NMT2_uc010qbz.1_Nonsense_Mutation_p.S235*	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	423					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						GTTGTAGAATGAGTAGGCGGC	0.552		NaN											0	0	0	1	0	25	137				
KIAA1217	56243	broad.mit.edu	37	10	24669900	24669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:24669900G>C	uc001iru.3	+	3	860	c.457G>C	c.(457-459)GAG>CAG	p.E153Q	KIAA1217_uc001irs.2_Missense_Mutation_p.E73Q|KIAA1217_uc001irt.3_Missense_Mutation_p.E153Q|KIAA1217_uc010qcy.1_Missense_Mutation_p.E153Q|KIAA1217_uc010qcz.1_Missense_Mutation_p.E153Q|KIAA1217_uc001irv.1_Missense_Mutation_p.E3Q|KIAA1217_uc010qda.1_RNA	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	153					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGCCATGTCTGAGGGGGATGC	0.552		NaN											0	0	0	1	0	31	29				
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:75011600G>C	uc001jts.1	-	2	406	c.195C>G	c.(193-195)CTC>CTG	p.L65L	DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank	NM_016065	NP_057149	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16 precursor	65					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537		NaN											0	0	0	1	0	57	26				
PTEN	5728	broad.mit.edu	37	10	89725134	89725134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:89725134G>A	uc001kfb.2	+	10	2148	c.1117G>A	c.(1117-1119)GAA>AAA	p.E373K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	373					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTGACAATGAACCTGATCA	0.388		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	1	0	10	17				
BTAF1	9044	broad.mit.edu	37	10	93699793	93699793	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:93699793G>C	uc001khr.2	+	3	321	c.223G>C	c.(223-225)GAG>CAG	p.E75Q	BTAF1_uc009xua.1_RNA	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	75					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AAATGTACCTGAGTGGAATCC	0.353		NaN											0	0	0	1	0	8	14				
PDE6C	5146	broad.mit.edu	37	10	95400704	95400704	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:95400704G>T	uc001kiu.3	+	14	1903	c.1765G>T	c.(1765-1767)GAT>TAT	p.D589Y		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	589					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				GTACTACACAGATCTCGAAGC	0.363		NaN											1	0	0.00244969	1	0.00248141	15	29				
HELLS	3070	broad.mit.edu	37	10	96317928	96317928	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:96317928A>T	uc001kjt.2	+	4	414	c.309A>T	c.(307-309)AAA>AAT	p.K103N	HELLS_uc001kjs.2_Missense_Mutation_p.K87N|HELLS_uc009xul.2_Missense_Mutation_p.K103N|HELLS_uc009xum.2_Missense_Mutation_p.K103N|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.K103N|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	103	Potential.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGGAGAGAAAAAAGGAGTCTT	0.269		NaN											0	0	0	1	0	20	23				
PIK3AP1	118788	broad.mit.edu	37	10	98383279	98383279	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:98383279C>A	uc001kmq.2	-	11	1813	c.1685G>T	c.(1684-1686)AGT>ATT	p.S562I	PIK3AP1_uc001kmo.2_Missense_Mutation_p.S161I|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S384I	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	562						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGCTCTTGACTTTTTTCTGC	0.343		NaN											1	0	1.00798e-23	1	1.13023e-23	58	81				
FAM178A	55719	broad.mit.edu	37	10	102672946	102672946	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:102672946C>G	uc001krt.3	+	1	621	c.79C>G	c.(79-81)CTG>GTG	p.L27V	FAM178A_uc001krq.3_RNA|FAM178A_uc001krr.1_Missense_Mutation_p.L27V|FAM178A_uc001krs.2_Missense_Mutation_p.L27V	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	27											0						GCGCTGCCATCTGAGACCCGG	0.697		NaN											0	0	0	1	0	5	2				
TACC2	10579	broad.mit.edu	37	10	124008642	124008642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124008642G>A	uc001lfv.2	+	21	8991	c.8631G>A	c.(8629-8631)CTG>CTA	p.L2877L	TACC2_uc001lfw.2_Silent_p.L1023L|TACC2_uc009xzx.2_Silent_p.L2755L|TACC2_uc010qtv.1_Silent_p.L2804L|TACC2_uc001lfx.2_Silent_p.L504L|TACC2_uc001lfy.2_Silent_p.L500L|TACC2_uc001lfz.2_Silent_p.L955L|TACC2_uc001lga.2_Silent_p.L925L|TACC2_uc009xzy.2_Silent_p.L937L|TACC2_uc001lgb.2_Silent_p.L835L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2877	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCAGGCCCTGAAGGTGCACG	0.602		NaN											0	0	0	1	0	3	5				
PLEKHA1	59338	broad.mit.edu	37	10	124175485	124175485	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124175485C>G	uc001lge.1	+	7	702	c.579C>G	c.(577-579)ATC>ATG	p.I193M	PLEKHA1_uc001lgf.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgg.1_Missense_Mutation_p.I193M|PLEKHA1_uc001lgh.2_Missense_Mutation_p.I193M	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	193	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGGTTATCAAAGCTGGAT	0.348		NaN											0	0	0	1	0	16	1				
ART1	417	broad.mit.edu	37	11	3680949	3680949	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:3680949C>A	uc001lye.1	+	3	301	c.200C>A	c.(199-201)ACG>AAG	p.T67K	ART1_uc009yeb.1_Missense_Mutation_p.T67K	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	67					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTCAACCACACGGAGTTCCAG	0.602		NaN											1	0	0.000274275	1	0.000279497	8	4				
OR52B4	143496	broad.mit.edu	37	11	4389102	4389102	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:4389102G>C	uc010qye.1	-	1	424	c.424C>G	c.(424-426)CTG>GTG	p.L142V		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTGATCAGAGCATTTGTA	0.388		NaN											0	0	0	1	0	14	31				
TUB	7275	broad.mit.edu	37	11	8120357	8120357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:8120357C>T	uc001mga.2	+	9	1200	c.1051C>T	c.(1051-1053)CAG>TAG	p.Q351*	TUB_uc010rbk.1_Nonsense_Mutation_p.Q357*|TUB_uc001mfy.2_Nonsense_Mutation_p.Q406*	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	351					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGTCAACCCTCAGAAGGCCTC	0.507		NaN									OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	17	66				
IPO7	10527	broad.mit.edu	37	11	9450610	9450610	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:9450610G>A	uc001mho.2	+	14	1600	c.1458G>A	c.(1456-1458)GTG>GTA	p.V486V		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	486					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTGTGAAGTGAAGTTCAAAA	0.388		NaN											0	0	0	1	0	27	22				
UEVLD	55293	broad.mit.edu	37	11	18555896	18555896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18555896G>A	uc001mot.2	-	11	1309	c.1229C>T	c.(1228-1230)TCT>TTT	p.S410F	UEVLD_uc001mou.2_Intron|UEVLD_uc010rde.1_Missense_Mutation_p.S280F|UEVLD_uc010rdf.1_Missense_Mutation_p.S388F|UEVLD_uc010rdg.1_Missense_Mutation_p.S280F|UEVLD_uc001mov.2_Intron	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	410					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AGCTGATACAGAATGCACTTT	0.299		NaN											0	0	0	1	0	4	44				
SPTY2D1	144108	broad.mit.edu	37	11	18637593	18637593	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18637593G>C	uc001moy.2	-	3	444	c.228C>G	c.(226-228)CTC>CTG	p.L76L	SPTY2D1_uc010rdi.1_Silent_p.L76L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	76	Potential.									breast(1)	1						TGTCATGTTTGAGCTCAATTC	0.388		NaN											0	0	0	1	0	33	38				
LUZP2	338645	broad.mit.edu	37	11	24998163	24998163	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:24998163A>T	uc001mqs.2	+	8	783	c.549A>T	c.(547-549)CAA>CAT	p.Q183H	LUZP2_uc009yif.2_Missense_Mutation_p.Q97H|LUZP2_uc009yig.2_Missense_Mutation_p.Q141H	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	183	Potential.|Leucine-zipper.					extracellular region				ovary(1)|skin(1)	2						ATCTGGAACAAAAATTAGCTG	0.343		NaN											0	0	0	1	0	9	35				
CCDC73	493860	broad.mit.edu	37	11	32632777	32632777	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:32632777C>G	uc001mtv.2	-	17	2975	c.2931G>C	c.(2929-2931)TTG>TTC	p.L977F		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	977										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TCCAGTTATTCAAAGTGTCAG	0.393		NaN											0	0	0	1	0	26	78				
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:44331236C>T	uc001myb.2	-	1	481	c.377G>A	c.(376-378)CGA>CAA	p.R126Q		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	126					hair follicle development						0						GCAGGCGCCTCGCTGCAAGTA	0.473		NaN											0	0	0	1	0	4	0				
PRDM11	56981	broad.mit.edu	37	11	45246160	45246160	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:45246160G>C	uc001myo.2	+	8	1486	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	413										upper_aerodigestive_tract(1)	1						AGGCCAATTGGAGGATGAAGA	0.577		NaN											0	0	0	1	0	38	63				
OR5D13	390142	broad.mit.edu	37	11	55540964	55540964	+	Missense_Mutation	SNP	G	G	C	rs117263837	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:55540964G>C	uc010ril.1	+	1	51	c.51G>C	c.(49-51)TTG>TTC	p.L17F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TTATTCTCTTGGGTTTTTCAG	0.383		NaN											0	0	0	1	0	37	244				
OR5M10	390167	broad.mit.edu	37	11	56344278	56344278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:56344278C>T	uc001niz.1	-	1	920	c.920G>A	c.(919-921)GGA>GAA	p.G307E		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAGGATTTTCCCCTAATCAT	0.373		NaN											0	0	0	1	0	75	251				
OSBP	5007	broad.mit.edu	37	11	59368846	59368846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:59368846G>A	uc001noc.1	-	5	1514	c.1034C>T	c.(1033-1035)TCT>TTT	p.S345F	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	345					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCTTTGCCAGAGCAGCACTG	0.393		NaN											0	0	0	1	0	13	43				
DAGLA	747	broad.mit.edu	37	11	61488339	61488339	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:61488339A>C	uc001nsa.2	+	3	395	c.284A>C	c.(283-285)CAG>CCG	p.Q95P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	95	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GACTCCATGCAGTACGTGCTC	0.542		NaN											0	0	0	1	0	20	44				
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62289440G>A	uc001ntl.2	-	5	12749	c.12449C>T	c.(12448-12450)TCT>TTT	p.S4150F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4150					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522		NaN											0	0	0	1	0	41	92				
TUT1	64852	broad.mit.edu	37	11	62348892	62348892	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62348892G>C	uc001nto.2	-	3	707	c.669C>G	c.(667-669)GCC>GCG	p.A223A		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	185					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTGCATCAGGGCCACCACTA	0.587		NaN											0	0	0	1	0	6	23				
NXF1	10482	broad.mit.edu	37	11	62561884	62561884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62561884C>G	uc001nvf.1	-	19	1742	c.1606G>C	c.(1606-1608)GTG>CTG	p.V536L	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.V579L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	536	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCATTCCGCACAAATAGCTCA	0.493		NaN											0	0	0	1	0	8	43				
SLC22A8	9376	broad.mit.edu	37	11	62760912	62760912	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62760912C>T	uc001nwo.2	-	10	1649	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.E505K|SLC22A8_uc009yom.2_Missense_Mutation_p.E382K|SLC22A8_uc010rmm.1_Missense_Mutation_p.E414K|SLC22A8_uc009yon.2_Missense_Mutation_p.E505K	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	505	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TCCAGGTCTTCGATAGTCTCT	0.597		NaN											0	0	0	1	0	24	57				
PLCB3	5331	broad.mit.edu	37	11	64026396	64026396	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64026396C>G	uc001nzb.2	+	12	1293	c.1293C>G	c.(1291-1293)TCC>TCG	p.S431S	PLCB3_uc009ypg.1_Silent_p.S431S|PLCB3_uc009yph.1_Silent_p.S364S|PLCB3_uc009ypi.2_Silent_p.S431S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	431	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						ACTGCCGCTCCATCTTTGGAG	0.637		NaN											0	0	0	1	0	9	21				
NRXN2	9379	broad.mit.edu	37	11	64457929	64457929	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64457929G>A	uc001oar.2	-	6	1237	c.798C>T	c.(796-798)TCC>TCT	p.S266S	NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCCCCCCTCGGAGAACAGTA	0.647		NaN											0	0	0	1	0	14	9				
ATG2A	23130	broad.mit.edu	37	11	64673042	64673042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64673042G>T	uc001obx.2	-	24	3572	c.3457C>A	c.(3457-3459)CTG>ATG	p.L1153M	ATG2A_uc001obw.2_5'Flank	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1153							protein binding			ovary(1)|central_nervous_system(1)	2						TACCTGAGCAGGAAGGTGGAG	0.617		NaN											1	0	5.4927e-09	1	5.81883e-09	8	3				
C11orf2	738	broad.mit.edu	37	11	64876860	64876860	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64876860G>T	uc001ocr.1	+	6	1592	c.1552G>T	c.(1552-1554)GCC>TCC	p.A518S	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A394S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	518					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GAAGGGGGGTGCCACACCACC	0.617		NaN											1	0	3.59834e-05	1	3.70396e-05	6	36				
SYVN1	84447	broad.mit.edu	37	11	64895935	64895935	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64895935C>T	uc001odb.2	-	16	1867	c.1773G>A	c.(1771-1773)GAG>GAA	p.E591E	SYVN1_uc001odc.2_Silent_p.E590E|SYVN1_uc009yqc.2_Silent_p.E539E	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	591	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						CCTCAGGCATCTCCTCTGTGC	0.642		NaN											0	0	0	1	0	16	29				
KCNK7	10089	broad.mit.edu	37	11	65360568	65360568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:65360568C>T	uc001oes.2	-	3	1056	c.832G>A	c.(832-834)GAG>AAG	p.E278K	KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	278	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CCTTGGTCCTCAGCAGTCACA	0.627		NaN											0	0	0	1	0	4	16				
SPTBN2	6712	broad.mit.edu	37	11	66458983	66458983	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66458983G>C	uc001ojd.2	-	26	5409	c.5337C>G	c.(5335-5337)CTC>CTG	p.L1779L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1779	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGCCTCGTTGAGACTGTCCT	0.672		NaN											0	0	0	1	0	8	29				
SPTBN2	6712	broad.mit.edu	37	11	66460498	66460498	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66460498G>C	uc001ojd.2	-	24	5000	c.4928C>G	c.(4927-4929)ACC>AGC	p.T1643S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1643	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTGGTGGATGGTCTGCGCGTA	0.677		NaN											0	0	0	1	0	31	80				
LRFN4	78999	broad.mit.edu	37	11	66625620	66625620	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66625620C>T	uc001ojr.2	+	1	745	c.405C>T	c.(403-405)ATC>ATT	p.I135I	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Silent_p.I135I|LRFN4_uc001ojs.2_Silent_p.I135I	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	135	LRR 4.|Extracellular (Potential).					integral to membrane					0						TGGGCCGCATCGCGCCGGGAG	0.682		NaN											0	0	0	1	0	61	17				
CORO1B	57175	broad.mit.edu	37	11	67207901	67207901	+	Missense_Mutation	SNP	C	C	G	rs149251927		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:67207901C>G	uc001olj.1	-	6	802	c.766G>C	c.(766-768)GAG>CAG	p.E256Q	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.E256Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.E256Q	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGGGTTCCTCGAGGTTTTCC	0.622		NaN											0	0	0	1	0	8	20				
ARAP1	116985	broad.mit.edu	37	11	72412771	72412771	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:72412771G>A	uc001osu.2	-	16	2414	c.2225C>T	c.(2224-2226)CCG>CTG	p.P742L	ARAP1_uc001osv.2_Missense_Mutation_p.P742L|ARAP1_uc001osr.2_Missense_Mutation_p.P502L|ARAP1_uc001oss.2_Missense_Mutation_p.P497L|ARAP1_uc009yth.2_Missense_Mutation_p.P436L|ARAP1_uc010rre.1_Missense_Mutation_p.P497L|ARAP1_uc001osw.1_Missense_Mutation_p.P30L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	742					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GCTCACGGTCGGCAGGACAAC	0.632		NaN											0	0	0	1	0	68	187				
RNF169	254225	broad.mit.edu	37	11	74547165	74547165	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:74547165C>G	uc001ovl.3	+	6	1530	c.1517C>G	c.(1516-1518)TCT>TGT	p.S506C	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	506							zinc ion binding			ovary(1)	1						CATTTCCCCTCTGTTAGCCAA	0.473		NaN											0	0	0	1	0	50	122				
GRM5	2915	broad.mit.edu	37	11	88241803	88241803	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:88241803G>A	uc001pcq.2	-	9	3796	c.3596C>T	c.(3595-3597)ACT>ATT	p.T1199I	GRM5_uc009yvm.2_Missense_Mutation_p.T1167I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	1199	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TATGATAAGAGTGTCATATTT	0.602		NaN											0	0	0	1	0	8	18				
NOX4	50507	broad.mit.edu	37	11	89133452	89133452	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:89133452G>A	uc001pct.2	-	10	1181	c.942C>T	c.(940-942)GTC>GTT	p.V314V	NOX4_uc009yvr.2_Silent_p.V289V|NOX4_uc001pcu.2_Silent_p.V240V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.V314V|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Silent_p.V148V|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Silent_p.V290V|NOX4_uc009yvq.2_Silent_p.V290V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	314	FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GATGACTCATGACCGAAATGA	0.433		NaN											0	0	0	1	0	12	54				
GRIA4	2893	broad.mit.edu	37	11	105775959	105775959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:105775959G>C	uc001pix.2	+	9	1536	c.1090G>C	c.(1090-1092)GAC>CAC	p.D364H	GRIA4_uc001piu.1_Missense_Mutation_p.D364H|GRIA4_uc001piw.2_Missense_Mutation_p.D364H|GRIA4_uc009yxk.1_Missense_Mutation_p.D364H	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	364	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGTTCAGTTTGACCACTATGG	0.393		NaN											0	0	0	1	0	20	89				
NPAT	4863	broad.mit.edu	37	11	108032032	108032032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108032032C>T	uc001pjz.3	-	17	3883	c.3781G>A	c.(3781-3783)GAT>AAT	p.D1261N	NPAT_uc010rvv.1_Missense_Mutation_p.D317N	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1261					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACTACTATCAGCAAGCCTA	0.448		NaN											0	0	0	1	0	89	85				
EXPH5	23086	broad.mit.edu	37	11	108384109	108384109	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108384109C>T	uc001pkk.2	-	6	2236	c.2125G>A	c.(2125-2127)GAA>AAA	p.E709K	EXPH5_uc010rvy.1_Missense_Mutation_p.E521K|EXPH5_uc010rvz.1_Missense_Mutation_p.E553K|EXPH5_uc010rwa.1_Missense_Mutation_p.E633K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	709					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTCTTCTTCTGAAATAGAT	0.413		NaN											0	0	0	1	0	22	54				
DRD2	1813	broad.mit.edu	37	11	113286260	113286260	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:113286260G>A	uc001pnz.2	-	4	927	c.606C>T	c.(604-606)TTC>TTT	p.F202F	DRD2_uc010rwv.1_Silent_p.F201F|DRD2_uc001poa.3_Silent_p.F202F|DRD2_uc001pob.3_Silent_p.F202F|DRD2_uc009yyr.1_Silent_p.F202F	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	202	Helical; Name=5; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGTGACAATGAAGGGCACGT	0.597		NaN											0	0	0	1	0	27	43				
DSCAML1	57453	broad.mit.edu	37	11	117332172	117332172	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:117332172C>T	uc001prh.1	-	18	3588	c.3586G>A	c.(3586-3588)GAT>AAT	p.D1196N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1136	Fibronectin type-III 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCACCCCCATCAACATAGAGG	0.602		NaN											0	0	0	1	0	27	44				
AMICA1	120425	broad.mit.edu	37	11	118071280	118071280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118071280G>T	uc001psk.2	-	7	994	c.820C>A	c.(820-822)CAG>AAG	p.Q274K	AMICA1_uc001psg.2_Missense_Mutation_p.Q84K|AMICA1_uc001psh.2_Missense_Mutation_p.Q235K|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.Q264K|AMICA1_uc001psj.2_Missense_Mutation_p.Q263K|AMICA1_uc010rxw.1_Missense_Mutation_p.Q235K|AMICA1_uc010rxx.1_Missense_Mutation_p.Q274K|AMICA1_uc001psl.1_Missense_Mutation_p.Q230K	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	274	Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCACCAACTGATTACCACCC	0.502		NaN											1	0	4.87955e-14	1	5.32458e-14	26	41				
MLL	4297	broad.mit.edu	37	11	118363895	118363895	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118363895G>A	uc001pta.2	+	16	5142	c.5119G>A	c.(5119-5121)GAT>AAT	p.D1707N	MLL_uc001ptb.2_Missense_Mutation_p.D1710N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1707	Bromo; divergent.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCAGCCTTTAGATCTAGAAGG	0.478		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	16	96		Valid		
HYOU1	10525	broad.mit.edu	37	11	118923444	118923444	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118923444C>G	uc001puu.2	-	9	1085	c.892G>C	c.(892-894)GAT>CAT	p.D298H	HYOU1_uc001put.2_Missense_Mutation_p.D263H|HYOU1_uc010ryu.1_Missense_Mutation_p.D318H|HYOU1_uc010ryv.1_Missense_Mutation_p.D187H|HYOU1_uc001pux.3_Missense_Mutation_p.D298H|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.D298H	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	298						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCCGCACATCCTTTGCTCTC	0.612		NaN											0	0	0	1	0	8	23				
ARHGEF12	23365	broad.mit.edu	37	11	120292558	120292558	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:120292558C>G	uc001pxl.1	+	6	352	c.345C>G	c.(343-345)ATC>ATG	p.I115M	ARHGEF12_uc009zat.2_Missense_Mutation_p.I96M|ARHGEF12_uc010rzn.1_Missense_Mutation_p.I12M|ARHGEF12_uc009zau.1_Missense_Mutation_p.I12M	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	115	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCGAATCATCAAGGTAAGGA	0.333		NaN	T	MLL	AML								0	0	0	1	0	12	52				
OR8G2	26492	broad.mit.edu	37	11	124096005	124096005	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:124096005C>T	uc010saf.1	+	1	608	c.608C>T	c.(607-609)TCC>TTC	p.S203F		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	203						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTCTCCTGCTCCAGCACCTAC	0.423		NaN											0	0	0	1	0	45	247				
APLP2	334	broad.mit.edu	37	11	129999042	129999042	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:129999042G>A	uc010sby.1	+	10	1553	c.1396G>A	c.(1396-1398)GAC>AAC	p.D466N	APLP2_uc001qfp.2_Missense_Mutation_p.D466N|APLP2_uc001qfq.2_Missense_Mutation_p.D410N|APLP2_uc010sbz.1_Missense_Mutation_p.D254N|APLP2_uc001qfr.2_Missense_Mutation_p.D232N|APLP2_uc001qfs.2_Missense_Mutation_p.D237N|APLP2_uc001qfv.2_Missense_Mutation_p.D357N	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	466	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TATGCTGAATGACCGCCGTCG	0.592		NaN											0	0	0	1	0	42	26				
KDM5A	5927	broad.mit.edu	37	12	442723	442723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:442723G>C	uc001qif.1	-	12	1946	c.1583C>G	c.(1582-1584)TCC>TGC	p.S528C	KDM5A_uc001qie.1_Missense_Mutation_p.S528C|KDM5A_uc010sdn.1_Missense_Mutation_p.S487C|KDM5A_uc010sdo.1_Missense_Mutation_p.S147C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	528	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						ATCAGGCTGGGATTCAAATAA	0.502		NaN	T 	NUP98	AML								0	0	0	1	0	22	45				
NOP2	4839	broad.mit.edu	37	12	6672897	6672897	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6672897C>G	uc001qpk.1	-	6	615	c.571G>C	c.(571-573)GAG>CAG	p.E191Q	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.E187Q|NOP2_uc001qpi.1_Missense_Mutation_p.E187Q|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.E224Q|NOP2_uc001qpm.1_Missense_Mutation_p.E191Q			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	191					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						ACTTCTTTCTCTTCCTCCTCG	0.547		NaN									OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	4	25				
ING4	51147	broad.mit.edu	37	12	6761554	6761554	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6761554G>C	uc001qpw.3	-	6	572	c.531C>G	c.(529-531)ACC>ACG	p.T177T	ING4_uc001qpv.3_Silent_p.T176T|ING4_uc001qpy.3_Silent_p.T173T|ING4_uc001qpx.3_Silent_p.T174T|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Silent_p.T153T|ING4_uc009zeu.2_Intron|ING4_uc009zev.2_RNA	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4 isoform 9	177					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|ovary(1)	4						CACTGCCAAAGGTCACTGAGG	0.512		NaN											0	0	0	1	0	28	112				
A2M	2	broad.mit.edu	37	12	9229519	9229519	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9229519C>T	uc001qvk.1	-	28	3478	c.3365G>A	c.(3364-3366)CGC>CAC	p.R1122H	A2M_uc001qvj.1_Missense_Mutation_p.R164H|A2M_uc009zgk.1_Missense_Mutation_p.R972H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1122					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGGGCATTGCGGACAACAGG	0.502		NaN											0	0	0	1	0	31	63				
PZP	5858	broad.mit.edu	37	12	9305844	9305844	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9305844C>T	uc001qvl.2	-	30	3899	c.3870G>A	c.(3868-3870)CAG>CAA	p.Q1290Q	PZP_uc009zgl.2_Silent_p.Q1076Q	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TAGAAAAGGTCTGTGAATCCT	0.478		NaN											0	0	0	1	0	57	77				
LOH12CR1	118426	broad.mit.edu	37	12	12588569	12588569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:12588569G>C	uc001ral.2	+	3	576	c.210G>C	c.(208-210)TTG>TTC	p.L70F	LOH12CR1_uc009zhu.2_Missense_Mutation_p.L22F	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	70										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AAGGGCTATTGAGTGGCCAGA	0.403		NaN											0	0	0	1	0	12	52				
LRMP	4033	broad.mit.edu	37	12	25260856	25260856	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:25260856G>C	uc001rgh.2	+	21	2396	c.1362G>C	c.(1360-1362)TTG>TTC	p.L454F	LRMP_uc010sja.1_Missense_Mutation_p.L454F|LRMP_uc010sjb.1_Missense_Mutation_p.L401F|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.L454F|LRMP_uc010sjd.1_Missense_Mutation_p.L401F	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	510	Helical; Anchor for type IV membrane protein; (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTGCAGCTTTGATGAGCTTCC	0.473		NaN											0	0	0	1	0	32	104				
RASSF8	11228	broad.mit.edu	37	12	26217937	26217937	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:26217937G>C	uc001rgx.2	+	3	831	c.610G>C	c.(610-612)GAG>CAG	p.E204Q	RASSF8_uc001rgy.2_Missense_Mutation_p.E204Q|RASSF8_uc001rgz.2_Missense_Mutation_p.E204Q|RASSF8_uc009zjd.1_Missense_Mutation_p.E204Q|RASSF8_uc009zje.1_Missense_Mutation_p.E204Q	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	204	Glu-rich.				signal transduction						0	Colorectal(261;0.0847)					CAACCTTGAAGAGGAAATTGT	0.363		NaN											0	0	0	1	0	7	58				
STK38L	23012	broad.mit.edu	37	12	27455101	27455101	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27455101G>C	uc001rhr.2	+	3	365	c.166G>C	c.(166-168)GAA>CAA	p.E56Q	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.E4Q	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	56					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					CATGGAAGAAGAAGGATTAGC	0.299		NaN											0	0	0	1	0	47	72				
PPFIBP1	8496	broad.mit.edu	37	12	27788022	27788022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27788022C>G	uc001ric.1	+	4	621	c.244C>G	c.(244-246)CTT>GTT	p.L82V	PPFIBP1_uc001rhy.1_Missense_Mutation_p.L82V|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L82V|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L82V|PPFIBP1_uc001ria.2_Missense_Mutation_p.L82V|PPFIBP1_uc001rid.1_Intron	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	82					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					AGCAGAAACGCTTGTTGAATG	0.413		NaN											0	0	0	1	0	23	53				
IRAK4	51135	broad.mit.edu	37	12	44180267	44180267	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:44180267G>C	uc001rnu.3	+	12	1384	c.1254G>C	c.(1252-1254)ATG>ATC	p.M418I	IRAK4_uc001rnt.3_Missense_Mutation_p.M418I|IRAK4_uc001rnx.3_Missense_Mutation_p.M294I|IRAK4_uc001rny.3_Missense_Mutation_p.M294I|IRAK4_uc010sky.1_Missense_Mutation_p.M294I|IRAK4_uc001rnv.3_Missense_Mutation_p.M294I|IRAK4_uc001rnw.3_Missense_Mutation_p.M294I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	418	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATAAAAAGATGAATGATGCTG	0.303		NaN											0	0	0	1	0	18	75				
SLC38A2	54407	broad.mit.edu	37	12	46764968	46764968	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:46764968G>A	uc001rpg.2	-	2	549	c.109C>T	c.(109-111)CTG>TTG	p.L37L	SLC38A2_uc001rph.2_5'UTR	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	37	Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CACCTTTTCAGAGCAGCTTGC	0.488		NaN											0	0	0	1	0	8	127				
AMIGO2	347902	broad.mit.edu	37	12	47472633	47472633	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:47472633G>T	uc001rpm.2	-	3	808	c.153C>A	c.(151-153)ATC>ATA	p.I51I	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.I51I|AMIGO2_uc001rpl.2_Silent_p.I51I	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	51	Extracellular (Potential).|LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TGCAGCTGACGATGTCAGTGG	0.542		NaN											1	0	1.56442e-22	1	1.75029e-22	33	62				
DDX23	9416	broad.mit.edu	37	12	49226345	49226345	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49226345G>A	uc001rsm.2	-	14	1906	c.1815C>T	c.(1813-1815)TTC>TTT	p.F605F		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	605	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TGGTGGCCGTGAACATGACTG	0.587		NaN											0	0	0	1	0	9	41				
MLL2	8085	broad.mit.edu	37	12	49424126	49424126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49424126C>T	uc001rta.3	-	42	13936	c.13936G>A	c.(13936-13938)GAA>AAA	p.E4646K		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4646					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCAGCTCTTCAGATGGGGTG	0.612		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	1	0	5	6		Valid		
NCKAP5L	57701	broad.mit.edu	37	12	50195682	50195682	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50195682C>T	uc009zlk.2	-	6	502	c.300G>A	c.(298-300)CTG>CTA	p.L100L		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	96	Potential.									central_nervous_system(1)	1						ACAGGGCACTCAGCATCTGGT	0.592		NaN											0	0	0	1	0	15	66				
LIMA1	51474	broad.mit.edu	37	12	50598415	50598415	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50598415G>C	uc001rwj.3	-	6	958	c.784C>G	c.(784-786)CTC>GTC	p.L262V	LIMA1_uc001rwg.3_5'Flank|LIMA1_uc001rwh.3_Missense_Mutation_p.L102V|LIMA1_uc001rwi.3_Missense_Mutation_p.L102V|LIMA1_uc001rwk.3_Missense_Mutation_p.L262V|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	262					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						GTTTCTGAGAGGCGTGGAAGT	0.403		NaN											0	0	0	1	0	54	62				
KRT84	3890	broad.mit.edu	37	12	52774948	52774948	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52774948G>A	uc001sah.1	-	6	1167	c.1119C>T	c.(1117-1119)AAC>AAT	p.N373N		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	373	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGCGCAGGTTGTCACAGT	0.557		NaN											0	0	0	1	0	40	144				
KRT84	3890	broad.mit.edu	37	12	52776813	52776813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52776813C>G	uc001sah.1	-	3	840	c.792G>C	c.(790-792)GAG>GAC	p.E264D		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	264	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAACTCATTCTCAGCATTGG	0.502		NaN											0	0	0	1	0	18	59				
KRT4	3851	broad.mit.edu	37	12	53204577	53204577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53204577C>T	uc001saz.2	-	3	1194	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	234						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GGCTGCTGTGCGTTTGTTGAT	0.517		NaN											0	0	0	1	0	16	53				
SP7	121340	broad.mit.edu	37	12	53723022	53723022	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53723022A>T	uc001sct.2	-	2	311	c.204T>A	c.(202-204)TTT>TTA	p.F68L	SP7_uc001scu.2_Missense_Mutation_p.F50L|SP7_uc001scv.2_Missense_Mutation_p.F68L	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAGTGCTTGTAAAGGGGGCTG	0.542		NaN											0	0	0	1	0	30	139				
ATF7	11016	broad.mit.edu	37	12	53918472	53918472	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53918472C>T	uc001sdy.2	-	9	1055	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R334Q|ATF7_uc010sol.1_Missense_Mutation_p.R313Q	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	345	Basic motif.|Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GCGCTGCCGTCGCTCATCTGG	0.622		NaN											0	0	0	1	0	8	23				
DNAJC14	85406	broad.mit.edu	37	12	56188173	56188173	+	Splice_Site	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56188173T>C	uc001shu.1	-	12	2483	c.2427_splice	c.e12-1	p.R809_splice	SARNP_uc009zoa.2_Splice_Site|SARNP_uc001shs.3_Splice_Site|SARNP_uc001sht.2_Splice_Site_p.R126_splice|SARNP_uc001shv.3_Intron	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein						protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						ATCCCAAACCTGAAGAAGGAA	0.358		NaN											0	0	0	1	0	69	234				
DNAJC14	85406	broad.mit.edu	37	12	56215880	56215880	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56215880A>G	uc001shx.1	-	7	2194	c.1990T>C	c.(1990-1992)TTT>CTT	p.F664L	DNAJC14_uc001shu.1_Missense_Mutation_p.F664L|DNAJC14_uc009zob.1_Missense_Mutation_p.F664L	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	664					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GGAGCTGCAAAGAAGTTCCCA	0.567		NaN											0	0	0	1	0	20	56				
SILV	6490	broad.mit.edu	37	12	56351734	56351734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351734G>C	uc001sip.2	-	5	635	c.604C>G	c.(604-606)CAT>GAT	p.H202D	SILV_uc001siq.2_Missense_Mutation_p.H202D|SILV_uc010spx.1_Missense_Mutation_p.H116D|SILV_uc001sir.2_Missense_Mutation_p.H202D	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	202					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GAGCTGGAATGAGCAAGAGGC	0.572		NaN											0	0	0	1	0	31	50				
SILV	6490	broad.mit.edu	37	12	56351767	56351767	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351767G>A	uc001sip.2	-	5	602	c.571C>T	c.(571-573)CGC>TGC	p.R191C	SILV_uc001siq.2_Missense_Mutation_p.R191C|SILV_uc010spx.1_Missense_Mutation_p.R105C|SILV_uc001sir.2_Missense_Mutation_p.R191C	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	191					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GATCCCCGGCGATGGTAGACA	0.572		NaN											0	0	0	1	0	27	48				
SMARCC2	6601	broad.mit.edu	37	12	56565672	56565672	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56565672C>T	uc001skb.2	-	20	1989	c.1883G>A	c.(1882-1884)GGA>GAA	p.G628E	SMARCC2_uc001skd.2_Missense_Mutation_p.G659E|SMARCC2_uc001ska.2_Missense_Mutation_p.G659E|SMARCC2_uc001skc.2_Missense_Mutation_p.G658E|SMARCC2_uc010sqf.1_Missense_Mutation_p.G548E	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	628	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGTGCGGCTTCCCACATGCTC	0.527		NaN											0	0	0	1	0	22	25		Valid		
TIMELESS	8914	broad.mit.edu	37	12	56817644	56817644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56817644G>C	uc001slf.2	-	16	2071	c.1903C>G	c.(1903-1905)CAA>GAA	p.Q635E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	635					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						GAAATGTCTTGAGAGCCAAAC	0.473		NaN											0	0	0	1	0	32	52				
TIMELESS	8914	broad.mit.edu	37	12	56818562	56818562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56818562G>C	uc001slf.2	-	15	2020	c.1852C>G	c.(1852-1854)CTC>GTC	p.L618V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	618					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						GACCTCAGGAGAGTCAGGGCC	0.597		NaN											0	0	0	1	0	38	57				
DPY19L2	283417	broad.mit.edu	37	12	64061860	64061860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:64061860G>C	uc001srp.1	-	1	495	c.314C>G	c.(313-315)TCC>TGC	p.S105C	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	105					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGTTCTGCTGGAGAACCGCCG	0.592		NaN											0	0	0	1	0	45	51				
HELB	92797	broad.mit.edu	37	12	66698778	66698778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:66698778C>G	uc001sti.2	+	2	483	c.455C>G	c.(454-456)TCA>TGA	p.S152*	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	152					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGAGGTATCAAACTACAAA	0.358		NaN											0	0	0	1	0	22	48				
CCT2	10576	broad.mit.edu	37	12	69991012	69991012	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:69991012G>T	uc001svb.1	+	11	1153	c.1059G>T	c.(1057-1059)ATG>ATT	p.M353I	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.M353I|CCT2_uc010stl.1_Missense_Mutation_p.M306I	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	353					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGAAGTCATGATTGGAGAAG	0.413		NaN											1	0	7.63117e-38	1	8.63282e-38	83	108				
ZFC3H1	196441	broad.mit.edu	37	12	72017272	72017272	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:72017272G>C	uc001swo.2	-	24	4971	c.4612C>G	c.(4612-4614)CTC>GTC	p.L1538V		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1538					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGAAGGGAGAATGTTGAAT	0.343		NaN											0	0	0	1	0	7	119				
BBS10	79738	broad.mit.edu	37	12	76740913	76740913	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:76740913C>G	uc001syd.1	-	2	936	c.852G>C	c.(850-852)CAG>CAC	p.Q284H		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	284					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						ATTGAGATGTCTGAAACTGTG	0.348		NaN							Bardet-Biedl_syndrome				0	0	0	1	0	16	20				
SYT1	6857	broad.mit.edu	37	12	79837968	79837968	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:79837968A>C	uc001sys.2	+	11	1715	c.1044A>C	c.(1042-1044)GTA>GTC	p.V348V	SYT1_uc001syt.2_Silent_p.V348V|SYT1_uc001syu.2_Silent_p.V345V|SYT1_uc001syv.2_Silent_p.V348V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	348	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						GCTTTGAAGTACCTTTTGAAC	0.353		NaN											0	0	0	1	0	27	183				
PPP1R12A	4659	broad.mit.edu	37	12	80266706	80266706	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:80266706C>G	uc001syz.2	-	2	517	c.250G>C	c.(250-252)GAC>CAC	p.D84H	PPP1R12A_uc010suc.1_5'UTR|PPP1R12A_uc001sza.2_Missense_Mutation_p.D84H|PPP1R12A_uc010sud.1_Missense_Mutation_p.D84H|PPP1R12A_uc001szb.2_Missense_Mutation_p.D84H|PPP1R12A_uc001szc.2_Missense_Mutation_p.D84H	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	84	ANK 2.					contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TCAACATTGTCATCAATGCAA	0.343		NaN											0	0	0	1	0	4	30				
ACSS3	79611	broad.mit.edu	37	12	81647169	81647169	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:81647169C>G	uc001szl.1	+	14	1894	c.1803C>G	c.(1801-1803)CTC>CTG	p.L601L	ACSS3_uc001szm.1_Silent_p.L600L|ACSS3_uc001szn.1_Silent_p.L283L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	601						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCTTAGCACTCTGTGTATTGA	0.428		NaN											0	0	0	1	0	37	161				
LRRIQ1	84125	broad.mit.edu	37	12	85449499	85449499	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85449499C>A	uc001tac.2	+	8	1039	c.928C>A	c.(928-930)CAA>AAA	p.Q310K	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q310K|LRRIQ1_uc001taa.1_Missense_Mutation_p.Q285K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	310	IQ 1.|Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TATTAAAGAGCAAATTGAAAG	0.154		NaN											1	0	5.9392e-07	1	6.22056e-07	6	35				
LRRIQ1	84125	broad.mit.edu	37	12	85517896	85517896	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85517896G>A	uc001tac.2	+	17	3717	c.3606G>A	c.(3604-3606)AAG>AAA	p.K1202K	LRRIQ1_uc001tab.1_Silent_p.K1202K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1202										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATTATTTTAAGAAATTGATGA	0.333		NaN											0	0	0	1	0	12	54				
MGAT4C	25834	broad.mit.edu	37	12	86374166	86374166	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:86374166C>A	uc001tai.3	-	8	1588	c.338G>T	c.(337-339)GGA>GTA	p.G113V	MGAT4C_uc001tal.3_Missense_Mutation_p.G113V|MGAT4C_uc001taj.3_Missense_Mutation_p.G113V|MGAT4C_uc001tak.3_Missense_Mutation_p.G113V|MGAT4C_uc010sum.1_Missense_Mutation_p.G137V|MGAT4C_uc001tah.3_Missense_Mutation_p.G113V	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	113	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TAAATAGTTTCCTTTTTTTCG	0.328		NaN											1	0	8.34094e-07	1	8.70917e-07	21	21				
NEDD1	121441	broad.mit.edu	37	12	97331111	97331111	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:97331111C>G	uc001teu.3	+	9	1396	c.1057C>G	c.(1057-1059)CTA>GTA	p.L353V	NEDD1_uc001tev.3_Missense_Mutation_p.L353V|NEDD1_uc010svc.1_Missense_Mutation_p.L264V|NEDD1_uc001tew.2_Missense_Mutation_p.L360V|NEDD1_uc001tex.2_Missense_Mutation_p.L264V	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	353					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						TGCCACAGTTCTACCACAACC	0.428		NaN											0	0	0	1	0	20	114				
UTP20	27340	broad.mit.edu	37	12	101776903	101776903	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:101776903G>C	uc001tia.1	+	59	7897	c.7741G>C	c.(7741-7743)GAC>CAC	p.D2581H		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2581					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GATAAAAGAAGACCTGGAAGA	0.418		NaN											0	0	0	1	0	21	31				
CCDC53	51019	broad.mit.edu	37	12	102433677	102433677	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:102433677C>A	uc010svw.1	-	5	563	c.404G>T	c.(403-405)AGA>ATA	p.R135I	CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.R134I	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	135						WASH complex	protein binding				0						TCTGGCATATCTTGGATCCTT	0.403		NaN											1	0	8.72158e-25	1	9.81178e-25	60	67				
STAB2	55576	broad.mit.edu	37	12	104049332	104049332	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104049332C>A	uc001tjw.2	+	15	1893	c.1707C>A	c.(1705-1707)GGC>GGA	p.G569G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	569	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TGAAGGACGGCACTCTCGATT	0.453		NaN											1	0	1.5842e-08	1	1.67477e-08	13	40				
STAB2	55576	broad.mit.edu	37	12	104142822	104142822	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104142822G>A	uc001tjw.2	+	59	6512	c.6326G>A	c.(6325-6327)AGC>AAC	p.S2109N	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2109	Extracellular (Potential).|EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GTCTCCTGCAGCTGCCAGAAG	0.587		NaN											0	0	0	1	0	22	62				
RIC8B	55188	broad.mit.edu	37	12	107209010	107209010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:107209010G>C	uc001tlx.2	+	3	794	c.669G>C	c.(667-669)GAG>GAC	p.E223D	RIC8B_uc001tlw.2_Missense_Mutation_p.E223D|RIC8B_uc001tly.2_Missense_Mutation_p.E183D|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	223					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						CACCTCAGGAGACAGACTGTG	0.478		NaN											0	0	0	1	0	47	72				
WSCD2	9671	broad.mit.edu	37	12	108603968	108603968	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:108603968G>T	uc001tms.2	+	4	1312	c.568G>T	c.(568-570)GTG>TTG	p.V190L	WSCD2_uc001tmt.2_Missense_Mutation_p.V190L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	190	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GGCGACGAACGTGAGCGAGGC	0.672		NaN											1	0	0.115264	1	0.115264	3	24				
WSB2	55884	broad.mit.edu	37	12	118476129	118476129	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:118476129G>C	uc001twr.2	-	5	722	c.624C>G	c.(622-624)GAC>GAG	p.D208E	WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.D208E	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	208	WD 3.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATGCTGCAGTCTGGGGAGA	0.512		NaN											0	0	0	1	0	14	25				
SRRM4	84530	broad.mit.edu	37	12	119559877	119559877	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:119559877C>A	uc001txa.1	+	6	759	c.467C>A	c.(466-468)TCC>TAC	p.S156Y		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	156	Ser-rich.|Lys-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						TTGTTTAGCTCCTCTAGCCCA	0.378		NaN											1	0	0.000151284	1	0.000155097	12	28				
GCN1L1	10985	broad.mit.edu	37	12	120576567	120576567	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120576567C>T	uc001txo.2	-	46	6101	c.6088G>A	c.(6088-6090)GAG>AAG	p.E2030K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2030	HEAT 17.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCAGCTGCTCGAAAGTCTTG	0.547		NaN											0	0	0	1	0	28	102				
PLA2G1B	5319	broad.mit.edu	37	12	120759997	120759997	+	Nonstop_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120759997C>A	uc001tyd.2	-	4	482	c.446G>T	c.(445-447)TGA>TTA	p.*149L	PLA2G1B_uc009zwx.2_3'UTR	NM_000928	NP_000919	P04054	PA21B_HUMAN	phospholipase A2 group IB precursor	149					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			skin(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGATATTCAACTCTGACA	0.423		NaN											1	0	7.82978e-24	1	8.78906e-24	62	181				
POP5	51367	broad.mit.edu	37	12	121018922	121018922	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:121018922G>A	uc001tys.2	-	2	191	c.159C>T	c.(157-159)TTC>TTT	p.F53F	POP5_uc001tyt.2_Silent_p.F53F	NM_015918	NP_057002	Q969H6	POP5_HUMAN	processing of precursor 5 isoform a	53					tRNA processing		protein binding|ribonuclease P activity				0	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TTGCACCCGCGAAGCCGATGG	0.677		NaN											0	0	0	1	0	11	61				
WDR66	144406	broad.mit.edu	37	12	122392093	122392093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122392093C>T	uc009zxk.2	+	10	1530	c.1388C>T	c.(1387-1389)TCA>TTA	p.S463L		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	463	WD 4.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAATACTCTCAGCCACAATG	0.438		NaN											0	0	0	1	0	36	69				
VPS33A	65082	broad.mit.edu	37	12	122750907	122750907	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122750907C>T	uc001ucd.2	-	1	162	c.49G>A	c.(49-51)GAG>AAG	p.E17K	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.E17K	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	17					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCACCGCCTCGCGCAACACG	0.677		NaN											0	0	0	1	0	8	36				
CLIP1	6249	broad.mit.edu	37	12	122825453	122825453	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122825453G>C	uc001ucg.1	-	10	2404	c.2298C>G	c.(2296-2298)CTC>CTG	p.L766L	CLIP1_uc001uch.1_Silent_p.L755L|CLIP1_uc001uci.1_Silent_p.L720L|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	766	Potential.			L -> P (in Ref. 3; AAI14214).	mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAGTAGCCTTGAGCTGTGATG	0.408		NaN											0	0	0	1	0	52	108				
DNAH10	196385	broad.mit.edu	37	12	124315201	124315201	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:124315201C>A	uc001uft.3	+	25	4171	c.4146C>A	c.(4144-4146)CTC>CTA	p.L1382L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1382	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATGTTCTCAATGAGATTG	0.368		NaN											1	0	7.93312e-07	1	8.29186e-07	13	19				
SCARB1	949	broad.mit.edu	37	12	125284769	125284769	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:125284769G>T	uc001ugo.3	-	8	1282	c.1029C>A	c.(1027-1029)TCC>TCA	p.S343S	SCARB1_uc001ugn.3_Silent_p.S343S|SCARB1_uc001ugm.3_Silent_p.S343S|SCARB1_uc010tbd.1_Silent_p.S343S|SCARB1_uc010tbe.1_Silent_p.S302S|SCARB1_uc001ugp.3_Silent_p.S343S	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	343	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGTGAGGATGGGAGAGAAACA	0.602		NaN											1	0	5.16669e-11	1	5.56034e-11	11	32				
TPTE2	93492	broad.mit.edu	37	13	20006667	20006667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:20006667G>C	uc001umd.2	-	17	1379	c.1168C>G	c.(1168-1170)CTC>GTC	p.L390V	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.L279V|TPTE2_uc001ume.2_Missense_Mutation_p.L313V|TPTE2_uc009zzm.2_Missense_Mutation_p.L61V|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.L61V	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	390						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGGAGGGAGATTCCAGTTG	0.358		NaN											0	0	0	1	0	6	24				
SACS	26278	broad.mit.edu	37	13	23930039	23930039	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:23930039T>C	uc001uon.2	-	8	1301	c.712A>G	c.(712-714)AAA>GAA	p.K238E	SACS_uc001uoo.2_Missense_Mutation_p.K91E|SACS_uc001uop.1_Missense_Mutation_p.K25E|SACS_uc001uoq.1_Missense_Mutation_p.K91E	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	238					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAATTTCTTTGCTGTCATCT	0.388		NaN											0	0	0	1	0	63	3				
FAM123A	219287	broad.mit.edu	37	13	25745097	25745097	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:25745097C>T	uc001uqb.2	-	1	761	c.661G>A	c.(661-663)GGG>AGG	p.G221R	FAM123A_uc001uqa.2_Missense_Mutation_p.G221R|FAM123A_uc001uqc.2_Missense_Mutation_p.G221R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	221										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAgccgcccccgggcgcgcgc	0.582		NaN											0	0	0	1	0	7	1				
KBTBD7	84078	broad.mit.edu	37	13	41766848	41766848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:41766848G>A	uc001uxw.1	-	1	1855	c.1546C>T	c.(1546-1548)CAG>TAG	p.Q516*	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	516	Kelch 3.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CATGCTTCCTGAAAGTCACTA	0.428		NaN											0	0	0	1	0	82	11				
C13orf18	80183	broad.mit.edu	37	13	46946326	46946326	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:46946326G>A	uc010acl.2	-	3	890	c.285C>T	c.(283-285)CTC>CTT	p.L95L	C13orf18_uc001vbf.3_Silent_p.L28L|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.L95L|C13orf18_uc001vbh.3_Silent_p.L95L|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.L95L|C13orf18_uc010tga.1_Silent_p.L28L	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	95	Ser-rich.										0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		GGGAGTCCCCGAGGCACGAAG	0.582		NaN											0	0	0	1	0	12	35				
PCDH17	27253	broad.mit.edu	37	13	58207298	58207298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:58207298G>A	uc001vhq.1	+	1	1510	c.618G>A	c.(616-618)CAG>CAA	p.Q206Q	PCDH17_uc010aec.1_Silent_p.Q206Q	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	206	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGCAACAGAATCACCATA	0.592		NaN											0	0	0	1	0	14	21				
OXGR1	27199	broad.mit.edu	37	13	97639537	97639537	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:97639537G>A	uc001vmx.1	-	4	721	c.477C>T	c.(475-477)ATC>ATT	p.I159I	OXGR1_uc010afr.1_Silent_p.I159I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	159	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CCAGTGAAATGATCCACACCA	0.478		NaN											0	0	0	1	0	4	46				
MBNL2	10150	broad.mit.edu	37	13	98043621	98043621	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:98043621C>T	uc010aft.2	+	8	1856	c.1040C>T	c.(1039-1041)TCT>TTT	p.S347F	MBNL2_uc001vmz.2_3'UTR|MBNL2_uc001vna.2_Missense_Mutation_p.S335F|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.S180F	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	347					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TGCCAAGAATCTGCATTGAGA	0.343		NaN											0	0	0	1	0	30	56				
DOCK9	23348	broad.mit.edu	37	13	99537285	99537285	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:99537285G>A	uc001vnt.2	-	21	2380	c.2325C>T	c.(2323-2325)ATC>ATT	p.I775I	DOCK9_uc001vnw.2_Silent_p.I774I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.I775I|DOCK9_uc010tis.1_Silent_p.I774I|DOCK9_uc010tit.1_Silent_p.I775I|DOCK9_uc010afu.1_Silent_p.I621I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	775	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGACCGGGATGTGCTGCT	0.512		NaN											0	0	0	1	0	10	9				
CLYBL	171425	broad.mit.edu	37	13	100518572	100518572	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:100518572T>C	uc001vok.2	+	6	727	c.713T>C	c.(712-714)CTC>CCC	p.L238P	CLYBL_uc010tix.1_3'UTR|CLYBL_uc010tiy.1_Missense_Mutation_p.L204P	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	238					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCTTTGGTCTCCAAGCCATA	0.473		NaN											0	0	0	1	0	21	67				
NALCN	259232	broad.mit.edu	37	13	102051408	102051408	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:102051408G>A	uc001vox.1	-	2	259	c.70C>T	c.(70-72)CTG>TTG	p.L24L	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Silent_p.L24L|NALCN_uc001vpa.2_Silent_p.L24L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	24	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCCGACAGAGACTCATCA	0.443		NaN											0	0	0	1	0	24	44				
SLC10A2	6555	broad.mit.edu	37	13	103718286	103718286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:103718286C>T	uc001vpy.3	-	1	911	c.314G>A	c.(313-315)TGC>TAC	p.C105Y		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	105	Extracellular (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCAGGGCAGCATCCTATAAT	0.512		NaN											0	0	0	1	0	67	6				
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:110434606T>G	uc001vqv.2	-	1	4309	c.3795A>C	c.(3793-3795)CCA>CCC	p.P1265P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.512		NaN											0	0	0	1	0	8	6				
TEP1	7011	broad.mit.edu	37	14	20856168	20856168	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:20856168G>C	uc001vxe.2	-	18	2620	c.2580C>G	c.(2578-2580)GAC>GAG	p.D860E	TEP1_uc010ahk.2_Missense_Mutation_p.D210E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.D752E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	860					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAATATTTTGTCCATTTGGC	0.507		NaN											0	0	0	1	0	14	18				
RNF31	55072	broad.mit.edu	37	14	24617000	24617001	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24617000_24617001GG>AA	uc001wmn.1	+	1	342_343	c.93_94GG>AA	c.(91-96)CTGGAG>CTAAAG	p.E32K	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Intron|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	32	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		CGTTTTCCCTGGAGCAGCTCCG	0.703		NaN											0	0	0	1	0	2	0				
RNF31	55072	broad.mit.edu	37	14	24619469	24619469	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619469G>A	uc001wmn.1	+	7	1258	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	RNF31_uc001wml.1_Missense_Mutation_p.E186K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E152K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GTTGGGAACTGAGGGTCCCCA	0.602		NaN											0	0	0	1	0	36	2				
RNF31	55072	broad.mit.edu	37	14	24619594	24619594	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619594G>A	uc001wmn.1	+	7	1383	c.1134G>A	c.(1132-1134)CTG>CTA	p.L378L	RNF31_uc001wml.1_Silent_p.L227L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.L193L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	378	RanBP2-type 2.|Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GACCTCGGCTGGCCCAGCCTC	0.567		NaN											0	0	0	1	0	53	4				
RNF31	55072	broad.mit.edu	37	14	24620038	24620038	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24620038G>A	uc001wmn.1	+	8	1678	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K	RNF31_uc001wml.1_Missense_Mutation_p.E326K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.E292K|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	477	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TGGAGATCCTGAGAAGCAGCG	0.632		NaN											0	0	0	1	0	28	1				
FOXG1	2290	broad.mit.edu	37	14	29237037	29237037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:29237037C>G	uc001wqe.2	+	1	751	c.552C>G	c.(550-552)TTC>TTG	p.F184L		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	184	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCCGCCGTTCAGCTACAACG	0.353		NaN											0	0	0	1	0	20	1				
HECTD1	25831	broad.mit.edu	37	14	31598292	31598292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:31598292G>C	uc001wrc.1	-	25	4774	c.4285C>G	c.(4285-4287)CTT>GTT	p.L1429V	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.L897V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1429	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCAGATGAAAGAACAACAATT	0.453		NaN											0	0	0	1	0	36	55				
FANCM	57697	broad.mit.edu	37	14	45668041	45668041	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:45668041G>A	uc001wwd.3	+	22	6010	c.5911G>A	c.(5911-5913)GAG>AAG	p.E1971K	FANCM_uc010anf.2_Missense_Mutation_p.E1945K|FANCM_uc001wwe.3_Missense_Mutation_p.E1507K|FANCM_uc010ang.2_Missense_Mutation_p.E1220K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1971	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TAATAAAAGTGAGGCACTCCA	0.348		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	31	5				
CNIH	10175	broad.mit.edu	37	14	54898890	54898890	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:54898890G>C	uc001xat.1	-	3	302	c.199C>G	c.(199-201)CTT>GTT	p.L67V	CNIH_uc001xav.1_Missense_Mutation_p.L67V	NM_005776	NP_005767	O95406	CNIH_HUMAN	cornichon-like	67	Helical; (Potential).				immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0				GBM - Glioblastoma multiforme(112;0.00341)		GCTGCACAAAGAAACATGACA	0.388		NaN											0	0	0	1	0	3	2				
C14orf149	112849	broad.mit.edu	37	14	59950883	59950883	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:59950883C>T	uc001xee.1	-	1	191	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	C14orf149_uc010trx.1_Missense_Mutation_p.R51Q|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	51							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CATGTAGCGCCGCTTGGCCAG	0.701		NaN									OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	5	6				
PRKCH	5583	broad.mit.edu	37	14	61995799	61995799	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:61995799G>C	uc001xfn.2	+	11	1745	c.1440G>C	c.(1438-1440)CTG>CTC	p.L480L	PRKCH_uc010tsa.1_Silent_p.L319L|PRKCH_uc010tsb.1_Silent_p.L48L	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	480	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGAGATCTGAAACTGGACA	0.453		NaN											0	0	0	1	0	36	2				
SYNE2	23224	broad.mit.edu	37	14	64467418	64467418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:64467418C>T	uc001xgm.2	+	28	3849	c.3619C>T	c.(3619-3621)CAG>TAG	p.Q1207*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q1207*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1207	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAGAGCTTCAGATGACTCT	0.294		NaN											0	0	0	1	0	17	29				
C14orf45	80127	broad.mit.edu	37	14	74514682	74514682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:74514682C>T	uc010tup.1	+	7	820	c.697C>T	c.(697-699)CAG>TAG	p.Q233*	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	233											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		TGATTATCTTCAGAAAGCTCT	0.363		NaN											0	0	0	1	0	12	17				
KIAA0317	9870	broad.mit.edu	37	14	75130693	75130693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:75130693G>A	uc001xqb.2	-	19	2783	c.2278C>T	c.(2278-2280)CAG>TAG	p.Q760*	KIAA0317_uc010tut.1_Nonsense_Mutation_p.Q599*	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	760	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GGTGGTAGCTGAGAGGAGCCT	0.562		NaN											0	0	0	1	0	18	44				
ISM2	145501	broad.mit.edu	37	14	77942212	77942212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:77942212G>C	uc001xtz.2	-	7	1516	c.1442C>G	c.(1441-1443)TCT>TGT	p.S481C	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.S393C|ISM2_uc010tvl.1_Missense_Mutation_p.S400C	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	481	AMOP.					extracellular region				skin(1)	1						GCTCTCCCCAGACAGCATGGA	0.687		NaN											0	0	0	1	0	5	40				
DIO2	1734	broad.mit.edu	37	14	80677657	80677657	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:80677657G>A	uc010tvq.1	-	2	561	c.159C>T	c.(157-159)CGC>CGT	p.R53R	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Silent_p.R53R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Silent_p.R53R|DIO2_uc010tvr.1_Silent_p.R53R|DIO2_uc010asy.2_Silent_p.R53R	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	53					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGTCAGCATGCGCCGCCACT	0.592		NaN											0	0	0	1	0	16	16				
FOXN3	1112	broad.mit.edu	37	14	89817116	89817116	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:89817116C>G	uc001xxo.3	-	3	717	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	FOXN3_uc001xxn.3_Missense_Mutation_p.E194Q|FOXN3_uc010atk.2_Missense_Mutation_p.E194Q	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	194	Fork-head.				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						TGTCTATACTCTGGGTCTATG	0.388		NaN											0	0	0	1	0	26	54				
RPS6KA5	9252	broad.mit.edu	37	14	91367073	91367073	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:91367073G>C	uc001xys.2	-	10	1342	c.1127C>G	c.(1126-1128)TCC>TGC	p.S376C	RPS6KA5_uc010twi.1_Missense_Mutation_p.S297C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.S376C|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	376	AGC-kinase C-terminal.			S->A: Loss of kinase activity, and decreases the phosphorylation of S-360 and T-581.	axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCAACAAAGGAATAGCCCTA	0.378		NaN											0	0	0	1	0	11	17				
TC2N	123036	broad.mit.edu	37	14	92253884	92253884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253884G>T	uc001xzu.3	-	10	1326	c.1135C>A	c.(1135-1137)CCA>ACA	p.P379T	TC2N_uc001xzt.3_Missense_Mutation_p.P379T|TC2N_uc010auc.2_Missense_Mutation_p.P315T|TC2N_uc001xzv.3_Missense_Mutation_p.P379T	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	379	C2.					nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GATGAGCTTGGAAGGTACCGT	0.348		NaN											1	0	3.09899e-07	1	3.2626e-07	9	31				
TC2N	123036	broad.mit.edu	37	14	92253914	92253914	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253914G>C	uc001xzu.3	-	10	1296	c.1105C>G	c.(1105-1107)CAG>GAG	p.Q369E	TC2N_uc001xzt.3_Missense_Mutation_p.Q369E|TC2N_uc010auc.2_Missense_Mutation_p.Q305E|TC2N_uc001xzv.3_Missense_Mutation_p.Q369E	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	369	C2.					nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		ATTTGTAACTGAATTCTGCTA	0.363		NaN											0	0	0	1	0	12	37				
SERPINA3	12	broad.mit.edu	37	14	95080891	95080891	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95080891A>C	uc001ydp.2	+	2	192	c.113A>C	c.(112-114)AAC>ACC	p.N38T	SERPINA3_uc001ydo.3_Missense_Mutation_p.N63T|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.N38T|SERPINA3_uc001yds.2_Missense_Mutation_p.N38T|SERPINA3_uc010avg.2_Missense_Mutation_p.N38T	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	38					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCAGGAGAACCAAGACCGA	0.587		NaN											0	0	0	1	0	28	71				
DICER1	23405	broad.mit.edu	37	14	95570291	95570291	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95570291G>C	uc001ydw.2	-	22	3624	c.3442C>G	c.(3442-3444)CAA>GAA	p.Q1148E	DICER1_uc010avh.1_Missense_Mutation_p.Q46E|DICER1_uc001ydv.2_Missense_Mutation_p.Q1138E|DICER1_uc001ydx.2_Missense_Mutation_p.Q1148E|DICER1_uc001ydy.1_5'UTR	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1148					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAGACATTTGGTCATGATTT	0.418		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	1	0	36	18				
CCNK	8812	broad.mit.edu	37	14	99959910	99959910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:99959910C>T	uc001ygi.3	+	3	387	c.257C>T	c.(256-258)TCC>TTC	p.S86F	CCNK_uc001ygg.3_Missense_Mutation_p.S86F	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	86					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATGTTTCATTCCTTCAAGCAA	0.328		NaN											0	0	0	1	0	13	14				
ASPG	374569	broad.mit.edu	37	14	104552129	104552129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:104552129G>T	uc001yoq.1	+	1	82	c.22G>T	c.(22-24)GAG>TAG	p.E8*	ASPG_uc001yoo.1_5'UTR|ASPG_uc001yop.1_Nonsense_Mutation_p.E8*|ASPG_uc001yor.1_Nonsense_Mutation_p.E8*	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	8					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GGTGGGGCCCGAGCGGAGGCT	0.746		NaN											1	0	1.12685e-05	1	1.16464e-05	9	5				
AHNAK2	113146	broad.mit.edu	37	14	105410361	105410361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105410361C>G	uc010axc.1	-	7	11547	c.11427G>C	c.(11425-11427)AAG>AAC	p.K3809N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K3709N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3809						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGACGGCATCTTGAACTTGG	0.572		NaN											0	0	0	1	0	94	204				
CRIP1	1396	broad.mit.edu	37	14	105954549	105954549	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105954549G>A	uc001yri.3	+	3	201	c.87G>A	c.(85-87)CTG>CTA	p.L29L	C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	29	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GGCCCTGCCTGAAGTGCGAGA	0.682		NaN											0	0	0	1	0	18	33				
CYFIP1	23191	broad.mit.edu	37	15	22993125	22993125	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:22993125C>T	uc001yus.2	+	26	3116	c.3012C>T	c.(3010-3012)ATC>ATT	p.I1004I	CYFIP1_uc001yut.2_Silent_p.I1004I|CYFIP1_uc010aya.1_Silent_p.I1032I|CYFIP1_uc001yuu.2_Silent_p.I573I|CYFIP1_uc001yuv.2_Silent_p.I198I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1004					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGAACGCCATCCTCTTCTGCC	0.498		NaN											0	0	0	1	0	41	23				
HERC2	8924	broad.mit.edu	37	15	28377404	28377404	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:28377404C>G	uc001zbj.2	-	81	12518	c.12412G>C	c.(12412-12414)GAG>CAG	p.E4138Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4138	RCC1 16.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAGCGCCTCCACCTTCAGA	0.567		NaN											0	0	0	1	0	3	14				
TRPM1	4308	broad.mit.edu	37	15	31352839	31352839	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:31352839C>G	uc001zfm.2	-	10	1233	c.1105G>C	c.(1105-1107)GTA>CTA	p.V369L	TRPM1_uc010azy.2_Missense_Mutation_p.V276L|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	369	Extracellular (Potential).			V -> L (in Ref. 2; BAC80200).	cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAGATACGTTTGTTCCT	0.562		NaN											0	0	0	1	0	6	11				
RYR3	6263	broad.mit.edu	37	15	33961642	33961642	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33961642C>T	uc001zhi.2	+	37	5777	c.5707C>T	c.(5707-5709)CTT>TTT	p.L1903F	RYR3_uc010bar.2_Missense_Mutation_p.L1903F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1903	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGAGGACCTTCTCCTTCA	0.458		NaN											0	0	0	1	0	20	13				
RYR3	6263	broad.mit.edu	37	15	33988667	33988667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33988667G>A	uc001zhi.2	+	39	6179	c.6109G>A	c.(6109-6111)GAG>AAG	p.E2037K	RYR3_uc010bar.2_Missense_Mutation_p.E2037K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2037	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGGAAGAGGAGTTGCTCAT	0.522		NaN											0	0	0	1	0	20	15				
RYR3	6263	broad.mit.edu	37	15	34113731	34113731	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34113731G>A	uc001zhi.2	+	80	10993	c.10923G>A	c.(10921-10923)ATG>ATA	p.M3641I	RYR3_uc010bar.2_Missense_Mutation_p.M3636I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3641					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGTGAGATGAGCCCCATGG	0.527		NaN											0	0	0	1	0	11	29				
C15orf55	256646	broad.mit.edu	37	15	34647761	34647761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34647761C>T	uc001zif.2	+	7	1623	c.1468C>T	c.(1468-1470)CAG>TAG	p.Q490*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.Q518*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.Q508*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	490						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CAGTGGCGCTCAGTTGGACTC	0.572		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	1	0	17	48				
SPRED1	161742	broad.mit.edu	37	15	38614540	38614540	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:38614540G>T	uc001zka.3	+	3	641	c.306G>T	c.(304-306)ACG>ACT	p.T102T		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	102	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGGTCTTACGTTTCAAAGTC	0.363		NaN							Legius_syndrome				1	0	1.67942e-08	1	1.77359e-08	17	76				
C15orf52	388115	broad.mit.edu	37	15	40632197	40632197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:40632197G>A	uc001zlh.3	-	2	180	c.164C>T	c.(163-165)TCC>TTC	p.S55F	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	55										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCATGGGGGACTCGGCTCT	0.612		NaN											0	0	0	1	0	18	9				
SPTBN5	51332	broad.mit.edu	37	15	42178522	42178522	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42178522A>G	uc001zos.2	-	7	1159	c.826T>C	c.(826-828)TAC>CAC	p.Y276H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	311	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTGCTCGTACTGGGTCTGC	0.622		NaN											0	0	0	1	0	3	18				
PLA2G4D	283748	broad.mit.edu	37	15	42364006	42364006	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42364006C>A	uc001zox.2	-	15	1634	c.1539G>T	c.(1537-1539)AGG>AGT	p.R513S		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	513	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGGATCCTCCTCATCAGCC	0.617		NaN											1	0	9.05144e-12	1	9.79289e-12	14	34				
CDAN1	146059	broad.mit.edu	37	15	43018340	43018340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43018340C>A	uc001zql.2	-	25	3340	c.3223G>T	c.(3223-3225)GAG>TAG	p.E1075*	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Nonsense_Mutation_p.E401*	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1075						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGATGCTGCTCAGCAGGTGGG	0.562		NaN											1	0	1.12685e-05	1	1.16464e-05	8	31				
TUBGCP4	27229	broad.mit.edu	37	15	43675567	43675567	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43675567C>G	uc001zro.2	+	7	828	c.588C>G	c.(586-588)CTC>CTG	p.L196L	TUBGCP4_uc001zrn.2_Silent_p.L196L|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	196					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATGGACTCCTCTTGGACCAGC	0.517		NaN											0	0	0	1	0	21	34				
FBN1	2200	broad.mit.edu	37	15	48703211	48703211	+	Missense_Mutation	SNP	C	C	G	rs139679866		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:48703211C>G	uc001zwx.1	-	66	8920	c.8592G>C	c.(8590-8592)ATG>ATC	p.M2864I	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2864					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTGGATTTTCATCTTCAGAT	0.328		NaN											0	0	0	1	0	11	34				
COPS2	9318	broad.mit.edu	37	15	49437194	49437194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:49437194C>T	uc001zxf.2	-	2	215	c.136G>A	c.(136-138)GAC>AAC	p.D46N	COPS2_uc001zxh.2_Missense_Mutation_p.D46N|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	46					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTTTTGGGTCATCTTCTTTT	0.323		NaN											0	0	0	1	0	27	33				
GLDN	342035	broad.mit.edu	37	15	51634220	51634220	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51634220G>A	uc002aba.2	+	1	508	c.339G>A	c.(337-339)ATG>ATA	p.M113I	GLDN_uc010bez.1_Missense_Mutation_p.M113I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	113	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACATGCTGATGATGATGACCT	0.711		NaN											0	0	0	1	0	14	37				
LEO1	123169	broad.mit.edu	37	15	52242065	52242065	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:52242065C>T	uc002abo.2	-	10	1754	c.1738G>A	c.(1738-1740)GAA>AAA	p.E580K	LEO1_uc010bfd.2_Missense_Mutation_p.E520K	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	580					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TCCTCGCCTTCCTCCTCCTCA	0.512		NaN											0	0	0	1	0	27	58				
ZNF280D	54816	broad.mit.edu	37	15	56981644	56981644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:56981644G>C	uc002adu.2	-	8	741	c.524C>G	c.(523-525)TCA>TGA	p.S175*	ZNF280D_uc002adv.2_Nonsense_Mutation_p.S162*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S175*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S203*|ZNF280D_uc010bfr.1_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AGGACGTTTTGATAAAAATGA	0.279		NaN											0	0	0	1	0	10	15				
CGNL1	84952	broad.mit.edu	37	15	57730472	57730472	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:57730472C>G	uc002aeg.2	+	2	351	c.275C>G	c.(274-276)TCT>TGT	p.S92C	CGNL1_uc010bfw.2_Missense_Mutation_p.S92C	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	92	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAATGGTTCTGTGCCAAAG	0.502		NaN											0	0	0	1	0	11	44				
RNF111	54778	broad.mit.edu	37	15	59323779	59323779	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:59323779C>G	uc002afv.2	+	2	1037	c.758C>G	c.(757-759)TCT>TGT	p.S253C	RNF111_uc002afs.2_Missense_Mutation_p.S253C|RNF111_uc002aft.2_Missense_Mutation_p.S253C|RNF111_uc002afu.2_Missense_Mutation_p.S253C|RNF111_uc002afw.2_Missense_Mutation_p.S253C	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	253	Ser-rich.|Interaction with AXIN1.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CTACCTAGTTCTAGTAGTTCC	0.408		NaN											0	0	0	1	0	6	118				
PLEKHO2	80301	broad.mit.edu	37	15	65157298	65157298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65157298G>A	uc002anv.2	+	6	818	c.684G>A	c.(682-684)GAG>GAA	p.E228E	PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Silent_p.E178E	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	228	Pro-rich.									ovary(1)|lung(1)	2						CTGTGGGGGAGAGAGCCCCAA	0.637		NaN											0	0	0	1	0	8	83				
MTFMT	123263	broad.mit.edu	37	15	65295436	65295436	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65295436C>G	uc002aof.3	-	9	1160	c.1134G>C	c.(1132-1134)CAG>CAC	p.Q378H		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	378						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	CAGTTTTTTTCTGCTTCTTCT	0.348		NaN											0	0	0	1	0	14	20				
SLC24A1	9187	broad.mit.edu	37	15	65917858	65917858	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65917858C>A	uc010ujf.1	+	2	1727	c.1440C>A	c.(1438-1440)GCC>GCA	p.A480A	SLC24A1_uc010ujd.1_Silent_p.A480A|SLC24A1_uc010uje.1_Silent_p.A480A|SLC24A1_uc010ujg.1_Silent_p.A480A|SLC24A1_uc010ujh.1_Silent_p.A480A	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	480	Cytoplasmic (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TCGTTCCAGCCCTGGGTGTCA	0.582		NaN											1	0	1.58986e-06	1	1.65835e-06	10	94				
UACA	55075	broad.mit.edu	37	15	70960935	70960935	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:70960935C>G	uc002asr.2	-	16	2192	c.2088G>C	c.(2086-2088)CAG>CAC	p.Q696H	UACA_uc010uke.1_Missense_Mutation_p.Q587H|UACA_uc002asq.2_Missense_Mutation_p.Q683H|UACA_uc010bin.1_Missense_Mutation_p.Q671H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	696	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						CTCCTGATTTCTGTTCTAATC	0.363		NaN											0	0	0	1	0	27	59				
C15orf60	283677	broad.mit.edu	37	15	73848666	73848666	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:73848666G>C	uc002avq.2	+	5	598	c.570G>C	c.(568-570)CAG>CAC	p.Q190H	C15orf60_uc010bjb.2_Missense_Mutation_p.Q162H	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	190										pancreas(1)	1						CAGAACAACAGCAAGTGTGTG	0.443		NaN											0	0	0	1	0	12	34				
CCDC33	80125	broad.mit.edu	37	15	74573088	74573088	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:74573088G>C	uc002axo.2	+	9	1363	c.969G>C	c.(967-969)AAG>AAC	p.K323N	CCDC33_uc002axp.2_Missense_Mutation_p.K145N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	526							protein binding			ovary(3)|skin(2)	5						TGTACCAGAAGATGCTGACAG	0.577		NaN											0	0	0	1	0	17	55				
LMAN1L	79748	broad.mit.edu	37	15	75108987	75108987	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75108987C>T	uc002ayt.1	+	4	455	c.453C>T	c.(451-453)ATC>ATT	p.I151I	LMAN1L_uc010bkd.2_Silent_p.I79I|LMAN1L_uc010ulo.1_Silent_p.I43I|LMAN1L_uc010bke.1_Silent_p.I151I	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	151	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GTCCTGCCATCCGTGTGCTGG	0.488		NaN											0	0	0	1	0	5	47				
PTPN9	5780	broad.mit.edu	37	15	75798197	75798197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75798197C>T	uc002bal.2	-	7	1295	c.787G>A	c.(787-789)GAG>AAG	p.E263K		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	263						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						AGGATGATCTCATCGAAGGGA	0.512		NaN											0	0	0	1	0	29	15				
SGK269	79834	broad.mit.edu	37	15	77407505	77407505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:77407505C>G	uc002bcm.2	-	6	4542	c.4234G>C	c.(4234-4236)GAA>CAA	p.E1412Q		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1412	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TCATCCTTTTCAGGGTCATCT	0.498		NaN											0	0	0	1	0	17	58				
ACAN	176	broad.mit.edu	37	15	89398590	89398590	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:89398590G>A	uc010upo.1	+	12	3148	c.2774G>A	c.(2773-2775)AGA>AAA	p.R925K	ACAN_uc010upp.1_Missense_Mutation_p.R925K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	925					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATGAAGAGAGAATTGAGTGG	0.577		NaN											0	0	0	1	0	15	32				
C15orf58	390637	broad.mit.edu	37	15	90784743	90784743	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:90784743C>T	uc002bpc.2	+	4	782	c.603C>T	c.(601-603)TTC>TTT	p.F201F		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	201					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						ACCCGGGCTTCCGTGTCGGCT	0.667		NaN											0	0	0	1	0	12	25				
PCSK6	5046	broad.mit.edu	37	15	101872078	101872078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:101872078C>A	uc002bwy.2	-	15	2331	c.2017G>T	c.(2017-2019)GAA>TAA	p.E673*	PCSK6_uc010bpd.2_Nonsense_Mutation_p.E469*|PCSK6_uc010bpe.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxa.2_Nonsense_Mutation_p.E673*|PCSK6_uc002bxb.2_Nonsense_Mutation_p.E673*	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	673					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCTCATCTTCAGGAACTTCC	0.557		NaN											1	0	0.014758	1	0.0148163	4	46				
RHBDF1	64285	broad.mit.edu	37	16	111597	111597	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:111597C>T	uc002cfl.3	-	12	1454	c.1306G>A	c.(1306-1308)GAG>AAG	p.E436K	RHBDF1_uc010uty.1_Missense_Mutation_p.E459K|RHBDF1_uc010utz.1_Missense_Mutation_p.E436K|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	436	Lumenal (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCACCGTCTCATGCTGCGAG	0.657		NaN											0	0	0	1	0	28	49				
HBQ1	3049	broad.mit.edu	37	16	230775	230776	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:230775_230776TC>AA	uc002cfz.2	+	2	357_358	c.206_207TC>AA	c.(205-207)CTC>CAA	p.L69Q		NM_005331	NP_005322	P09105	HBAT_HUMAN	theta 1 globin	69						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCGCTGAGCCTCGCCGTGGAGC	0.698		NaN											0	0	0	1	0	3	12				
PIGQ	9091	broad.mit.edu	37	16	632999	632999	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:632999C>T	uc002cho.2	+	10	1750	c.1648C>T	c.(1648-1650)CTA>TTA	p.L550L	PIGQ_uc010bqw.2_Silent_p.I570I|PIGQ_uc002chn.2_Silent_p.I570I|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.L120L|uc010uuj.1_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	550					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GGGAGCTCATCTACCCCTGGA	0.672		NaN											0	0	0	1	0	57	72				
FAM195A	84331	broad.mit.edu	37	16	697470	697470	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:697470C>T	uc002cic.1	+	3	379	c.236C>T	c.(235-237)ACG>ATG	p.T79M	FAM195A_uc002cid.1_Intron|FAM195A_uc002cie.2_Missense_Mutation_p.R8C|FAM195A_uc002cif.1_RNA|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank	NM_138418	NP_612427	Q9BUT9	F195A_HUMAN	hypothetical protein LOC84331	79											0						GCCCCCTCCACGTCCCCATCC	0.647		NaN											0	0	0	1	0	20	14				
PKD1	5310	broad.mit.edu	37	16	2153270	2153270	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153270C>A	uc002cos.1	-	23	8997	c.8788G>T	c.(8788-8790)GAC>TAC	p.D2930Y	PKD1_uc002cot.1_Missense_Mutation_p.D2930Y|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2930	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CACGCACCGTCCAGCAGCGTA	0.647		NaN											1	0	1.85244e-09	1	1.9727e-09	25	12				
PKD1	5310	broad.mit.edu	37	16	2153839	2153839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153839C>T	uc002cos.1	-	23	8428	c.8219G>A	c.(8218-8220)GGA>GAA	p.G2740E	PKD1_uc002cot.1_Missense_Mutation_p.G2740E|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2740	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGACTCGGCTCCCAGCTCTGA	0.597		NaN											0	0	0	1	0	13	4				
MMP25	64386	broad.mit.edu	37	16	3100351	3100351	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:3100351C>G	uc002cth.2	+	4	702	c.465C>G	c.(463-465)CTC>CTG	p.L155L	MMP25_uc002cti.1_Silent_p.L91L	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	155					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						AGTCAGGCCTCACATTTCATG	0.637		NaN											0	0	0	1	0	15	35				
TXNDC11	51061	broad.mit.edu	37	16	11773080	11773080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:11773080C>G	uc010buu.1	-	13	2991	c.2929G>C	c.(2929-2931)GAA>CAA	p.E977Q	TXNDC11_uc002dbg.1_Missense_Mutation_p.E950Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	977					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TTATTCCTTTCAGACACCAGT	0.478		NaN											0	0	0	1	0	14	44				
NOMO3	408050	broad.mit.edu	37	16	16349968	16349968	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:16349968C>T	uc002deq.2	+	11	1308	c.1173C>T	c.(1171-1173)ATC>ATT	p.I391I	NOMO3_uc002dep.2_Silent_p.I391I|NOMO3_uc010bvp.1_Silent_p.I224I	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	nodal modulator 3 precursor	391	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGGTCACCATCAAAATTGCAC	0.468		NaN											0	0	0	1	0	40	119				
DNAH3	55567	broad.mit.edu	37	16	20998710	20998710	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:20998710G>C	uc010vbe.1	-	47	6943	c.6943C>G	c.(6943-6945)CTG>GTG	p.L2315V	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGTCAATCAGACGATCATAG	0.413		NaN											0	0	0	1	0	42	75				
DNAH3	55567	broad.mit.edu	37	16	21065842	21065842	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:21065842T>A	uc010vbe.1	-	28	3938	c.3938A>T	c.(3937-3939)AAG>ATG	p.K1313M		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1313	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATCATTGCTCTTTTTCAGAAA	0.537		NaN											0	0	0	1	0	9	30				
IL21R	50615	broad.mit.edu	37	16	27456025	27456025	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:27456025C>A	uc002doq.1	+	6	903	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	IL21R_uc002dor.1_Missense_Mutation_p.Q224K|IL21R_uc002dos.1_Missense_Mutation_p.Q224K	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	224	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GGTCATCTTTCAGACCCAGTC	0.582		NaN	T	BCL6	NHL								1	0	0.000673444	1	0.000684208	11	40				
PRRT2	112476	broad.mit.edu	37	16	29824976	29824976	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:29824976C>T	uc002due.3	+	2	902	c.601C>T	c.(601-603)CAC>TAC	p.H201Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.H201Y|PRRT2_uc002duf.1_Missense_Mutation_p.H201Y|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	201	Extracellular (Potential).|Pro-rich.				response to biotic stimulus	integral to membrane					0						CCCTGAGCCTCACTCACCACC	0.612		NaN											0	0	0	1	0	7	11				
PPP4C	5531	broad.mit.edu	37	16	30096314	30096314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:30096314C>G	uc002dwe.2	+	9	999	c.855C>G	c.(853-855)ATC>ATG	p.I285M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.I285M|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.I206M	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	285					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						ATTTCATCATCTTTGAGGCTG	0.627		NaN											0	0	0	1	0	33	59				
ARMC5	79798	broad.mit.edu	37	16	31470893	31470893	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:31470893C>T	uc002ecc.2	+	1	577	c.48C>T	c.(46-48)CTC>CTT	p.L16L	ARMC5_uc010vfn.1_Silent_p.L111L|ARMC5_uc010vfo.1_Silent_p.L48L|ARMC5_uc002eca.3_Silent_p.L16L|ARMC5_uc010vfp.1_Silent_p.L16L|ARMC5_uc002ecb.2_Silent_p.L16L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	16							binding			pancreas(1)	1						CGTTCTGCCTCGCGCAGCTCG	0.716		NaN											0	0	0	1	0	5	8				
PHKB	5257	broad.mit.edu	37	16	47733202	47733202	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:47733202G>C	uc002eev.3	+	31	3259	c.3207G>C	c.(3205-3207)TTG>TTC	p.L1069F	PHKB_uc002eeu.3_Missense_Mutation_p.L1062F|PHKB_uc002eew.3_Missense_Mutation_p.L310F	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	1069					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCAGCTATTTGACAAAGGCGG	0.463		NaN											0	0	0	1	0	26	90				
LONP2	83752	broad.mit.edu	37	16	48368170	48368170	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:48368170C>T	uc002efi.1	+	12	1928	c.1839C>T	c.(1837-1839)ATC>ATT	p.I613I	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.I569I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	613					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						CTGAATCTATCAGTGACACTA	0.393		NaN											0	0	0	1	0	24	77				
SALL1	6299	broad.mit.edu	37	16	51175982	51175982	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:51175982C>G	uc010vgs.1	-	2	182	c.151G>C	c.(151-153)GAG>CAG	p.E51Q	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	51					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAAAGAACTCGGCACAGCAC	0.453		NaN											0	0	0	1	0	107	55				
OGFOD1	55239	broad.mit.edu	37	16	56504661	56504661	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:56504661G>A	uc002ejb.2	+	10	1344	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	OGFOD1_uc002ejc.2_Missense_Mutation_p.E275K	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	415							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	ACAGAGCAATGAGCAGACAGA	0.438		NaN											0	0	0	1	0	3	14				
CNOT1	23019	broad.mit.edu	37	16	58565903	58565903	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:58565903T>C	uc002env.2	-	42	6429	c.6136A>G	c.(6136-6138)ATA>GTA	p.I2046V	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I2041V|CNOT1_uc002ent.2_5'UTR|CNOT1_uc010vik.1_Missense_Mutation_p.I1003V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2046					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCAATAAATATCCGATGGGAA	0.423		NaN											0	0	0	1	0	99	33				
CMTM4	146223	broad.mit.edu	37	16	66651180	66651180	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66651180C>G	uc002epz.2	-	5	887	c.705G>C	c.(703-705)TAG>TAC	p.*235Y	CMTM4_uc002eqa.2_3'UTR	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	chemokine-like factor superfamily 4 isoform 1	235					chemotaxis	extracellular space|integral to membrane	cytokine activity			pancreas(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTGAACTTTTCTAGGCAAGTT	0.363		NaN											0	0	0	1	0	10	40				
DYNC1LI2	1783	broad.mit.edu	37	16	66783140	66783140	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66783140T>A	uc002eqb.1	-	3	289	c.258A>T	c.(256-258)CTA>CTT	p.L86L	DYNC1LI2_uc010vis.1_Silent_p.L86L|DYNC1LI2_uc010vit.1_Silent_p.L86L|DYNC1LI2_uc010viu.1_Intron	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	86					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AGAGATATTCTAGGCCTCTTC	0.468		NaN											0	0	0	1	0	35	62				
ELMO3	79767	broad.mit.edu	37	16	67236431	67236431	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67236431G>A	uc002esa.2	+	14	1595	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	ELMO3_uc002esb.2_Missense_Mutation_p.D501N|ELMO3_uc002esc.2_Missense_Mutation_p.D352N|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	465	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGAGGACTTCGACAAGGTGGG	0.622		NaN											0	0	0	1	0	35	86				
FHOD1	29109	broad.mit.edu	37	16	67263797	67263797	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67263797G>A	uc002esl.2	-	21	3423	c.3311C>T	c.(3310-3312)TCA>TTA	p.S1104L	LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|FHOD1_uc002esk.2_Missense_Mutation_p.S163L|FHOD1_uc010ced.2_Missense_Mutation_p.S911L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1104					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GATCTCATCTGATGTATCACT	0.582		NaN											0	0	0	1	0	7	118				
FHOD1	29109	broad.mit.edu	37	16	67273347	67273347	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67273347C>G	uc002esl.2	-	2	324	c.212G>C	c.(211-213)TGT>TCT	p.C71S	FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	71	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTGCAGAGCACAATCCTCCAA	0.557		NaN											0	0	0	1	0	11	68				
COG8	84342	broad.mit.edu	37	16	69369059	69369059	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:69369059T>C	uc002ewy.2	-	3	849	c.778A>G	c.(778-780)ACT>GCT	p.T260A	COG8_uc002ewz.3_Missense_Mutation_p.T260A	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	260					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GGAATGGCAGTCAGGATGGAC	0.517		NaN											0	0	0	1	0	8	45				
SF3B3	23450	broad.mit.edu	37	16	70603923	70603923	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:70603923G>T	uc002ezf.2	+	24	3490	c.3279G>T	c.(3277-3279)ATG>ATT	p.M1093I		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1093					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				AGGTGATCATGAACTACCATG	0.552		NaN											1	0	1.02788e-11	1	1.1109e-11	17	55				
ADAT1	23536	broad.mit.edu	37	16	75646313	75646313	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:75646313C>T	uc002feo.1	-	7	973	c.871G>A	c.(871-873)GGA>AGA	p.G291R	ADAT1_uc002fep.1_Missense_Mutation_p.G142R	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	291	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						GTTCTGTCTCCACGGCCTGGC	0.587		NaN											0	0	0	1	0	17	77				
CNTNAP4	85445	broad.mit.edu	37	16	76556045	76556045	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:76556045A>G	uc002feu.1	+	19	3031	c.2646A>G	c.(2644-2646)GAA>GAG	p.E882E	CNTNAP4_uc002fev.1_Silent_p.E746E|CNTNAP4_uc010chb.1_Silent_p.E809E|CNTNAP4_uc002fex.1_Silent_p.E885E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	882	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGAGGGTTGAAAGGAACATGA	0.522		NaN											0	0	0	1	0	48	139				
ATMIN	23300	broad.mit.edu	37	16	81077671	81077671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81077671C>G	uc002ffz.1	+	4	1586	c.1568C>G	c.(1567-1569)TCA>TGA	p.S523*	ATMIN_uc002fga.2_Nonsense_Mutation_p.S365*|ATMIN_uc010vnn.1_Nonsense_Mutation_p.S294*|ATMIN_uc002fgb.1_Nonsense_Mutation_p.S365*	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	523					response to DNA damage stimulus	nucleus	zinc ion binding				0						AGTGTTCATTCATCATATAAT	0.393		NaN											0	0	0	1	0	26	66				
ATMIN	23300	broad.mit.edu	37	16	81078172	81078172	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078172G>A	uc002ffz.1	+	4	2087	c.2069G>A	c.(2068-2070)GGA>GAA	p.G690E	ATMIN_uc002fga.2_Missense_Mutation_p.G532E|ATMIN_uc010vnn.1_Missense_Mutation_p.G461E|ATMIN_uc002fgb.1_Missense_Mutation_p.G532E	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	690					response to DNA damage stimulus	nucleus	zinc ion binding				0						GGGTGTAGGGGAAATTCTAAC	0.468		NaN											0	0	0	1	0	93	217				
ATMIN	23300	broad.mit.edu	37	16	81078303	81078303	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078303G>T	uc002ffz.1	+	4	2218	c.2200G>T	c.(2200-2202)GAT>TAT	p.D734Y	ATMIN_uc002fga.2_Missense_Mutation_p.D576Y|ATMIN_uc010vnn.1_Missense_Mutation_p.D505Y|ATMIN_uc002fgb.1_Missense_Mutation_p.D576Y	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	734					response to DNA damage stimulus	nucleus	zinc ion binding				0						CGTGAGTACTGATTCATCTGA	0.428		NaN											1	0	3.76114e-14	1	4.10857e-14	37	221				
ATMIN	23300	broad.mit.edu	37	16	81078383	81078383	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078383G>A	uc002ffz.1	+	4	2298	c.2280G>A	c.(2278-2280)TTG>TTA	p.L760L	ATMIN_uc002fga.2_Silent_p.L602L|ATMIN_uc010vnn.1_Silent_p.L531L|ATMIN_uc002fgb.1_Silent_p.L602L	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	760					response to DNA damage stimulus	nucleus	zinc ion binding				0						AAGTTCAGTTGAACAGTACAG	0.448		NaN											0	0	0	1	0	46	141				
KIAA0513	9764	broad.mit.edu	37	16	85100813	85100813	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:85100813G>C	uc002fiu.2	+	2	356	c.136G>C	c.(136-138)GAG>CAG	p.E46Q	KIAA0513_uc002fis.3_Missense_Mutation_p.E46Q|KIAA0513_uc010voj.1_Missense_Mutation_p.E46Q|KIAA0513_uc002fit.2_Missense_Mutation_p.E46Q	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	46						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		ATCAGAGAGTGAGACCACTGA	0.647		NaN											0	0	0	1	0	15	46				
FBXO31	79791	broad.mit.edu	37	16	87365010	87365010	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:87365010C>G	uc002fjw.2	-	9	1548	c.1504G>C	c.(1504-1506)GAG>CAG	p.E502Q	FBXO31_uc010vot.1_Missense_Mutation_p.E330Q|FBXO31_uc002fjv.2_Missense_Mutation_p.E394Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	502					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GATTTCAGCTCCAGCCAGACG	0.622		NaN											0	0	0	1	0	14	24				
ZFPM1	161882	broad.mit.edu	37	16	88594547	88594547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594547G>T	uc002fkv.2	+	6	646	c.613G>T	c.(613-615)GAG>TAG	p.E205*		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	205					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGTGAAGAAGGAGCCAGCAGA	0.697		NaN											1	0	0.014758	1	0.0148163	4	11				
ZFPM1	161882	broad.mit.edu	37	16	88594556	88594556	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594556G>C	uc002fkv.2	+	6	655	c.622G>C	c.(622-624)GAG>CAG	p.E208Q		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	208					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGAGCCAGCAGAGCCCACGTG	0.692		NaN											0	0	0	1	0	3	14				
CDT1	81620	broad.mit.edu	37	16	88871024	88871024	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88871024A>C	uc002flu.2	+	2	354	c.300A>C	c.(298-300)AAA>AAC	p.K100N		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	100					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGATAAAGAAATCCACCCCGG	0.687		NaN											0	0	0	1	0	20	28				
ANKRD11	29123	broad.mit.edu	37	16	89348054	89348054	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89348054C>G	uc002fmx.1	-	9	5357	c.4896G>C	c.(4894-4896)AAG>AAC	p.K1632N	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1632N|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1589N	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1632	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCAGACCCTTCTTCCGCCCGT	0.572		NaN											0	0	0	1	0	10	126				
ZNF276	92822	broad.mit.edu	37	16	89799709	89799709	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89799709G>C	uc002fos.3	+	7	1267	c.1170_splice	c.e7-1	p.K390_splice	ZNF276_uc010ciq.2_Splice_Site_p.K176_splice|ZNF276_uc002fop.2_Splice_Site_p.K298_splice|ZNF276_uc002foq.3_Splice_Site_p.K315_splice|ZNF276_uc010cir.2_Splice_Site|ZNF276_uc002for.3_Splice_Site_p.K176_splice|ZNF276_uc010cis.2_Splice_Site_p.K149_splice|ZNF276_uc002fot.3_Splice_Site|ZNF276_uc010vpm.1_Splice_Site_p.K228_splice|ZNF276_uc010cit.1_Splice_Site_p.K149_splice	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTTTTTTTCAGAGTCTCTGGT	0.428		NaN											0	0	0	1	0	31	111				
FANCA	2175	broad.mit.edu	37	16	89838145	89838145	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89838145C>T	uc002fou.1	-	23	2134	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K	FANCA_uc010vpn.1_Missense_Mutation_p.E698K	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	698					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTGATATCTCAACGCTGCTG	0.517		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	29	64				
PRPF8	10594	broad.mit.edu	37	17	1564436	1564436	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564436G>A	uc002fte.2	-	28	4473	c.4359C>T	c.(4357-4359)TTC>TTT	p.F1453F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1453						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTGTCCACCAGAACGGATTCT	0.547		NaN											0	0	0	1	0	44	4				
PRPF8	10594	broad.mit.edu	37	17	1564447	1564447	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564447G>C	uc002fte.2	-	28	4462	c.4348C>G	c.(4348-4350)CAG>GAG	p.Q1450E		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1450						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGGATTCTGCTTCAAAACC	0.542		NaN											0	0	0	1	0	45	5				
PRPF8	10594	broad.mit.edu	37	17	1564634	1564634	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564634G>A	uc002fte.2	-	27	4383	c.4269C>T	c.(4267-4269)TTC>TTT	p.F1423F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1423						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGTCCTTCTGGAAGAGGGTAT	0.458		NaN											0	0	0	1	0	101	11				
PRPF8	10594	broad.mit.edu	37	17	1564962	1564962	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564962G>C	uc002fte.2	-	26	4259	c.4145C>G	c.(4144-4146)TCT>TGT	p.S1382C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1382						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GACCCGCTGAGAATCAATGAA	0.552		NaN											0	0	0	1	0	47	6				
OR1E2	8388	broad.mit.edu	37	17	3336869	3336869	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3336869G>C	uc010vre.1	-	1	267	c.267C>G	c.(265-267)GAC>GAG	p.D89E		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	89	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						GGATGGATGGGTCTTGGTTCT	0.483		NaN											0	0	0	1	0	19	26				
ZZEF1	23140	broad.mit.edu	37	17	3992006	3992006	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3992006G>A	uc002fxe.2	-	13	2271	c.2207C>T	c.(2206-2208)ACC>ATC	p.T736I	ZZEF1_uc002fxk.1_Missense_Mutation_p.T736I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	736							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAACTGAAGGGTCCTGAGGAG	0.527		NaN											0	0	0	1	0	5	25				
ZZEF1	23140	broad.mit.edu	37	17	4013096	4013096	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4013096G>C	uc002fxe.2	-	6	1192	c.1128C>G	c.(1126-1128)CTC>CTG	p.L376L	ZZEF1_uc002fxk.1_Silent_p.L376L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	376	DOC.						calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAACAGCCCTGAGACCATGAA	0.443		NaN											0	0	0	1	0	12	43				
UBE2G1	7326	broad.mit.edu	37	17	4200037	4200037	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4200037G>A	uc002fxs.2	-	3	580	c.222C>T	c.(220-222)TTC>TTT	p.F74F		NM_003342	NP_003333	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	74					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						TTTCTGTAATGAATTTCATTT	0.348		NaN											0	0	0	1	0	126	17				
MYBBP1A	10514	broad.mit.edu	37	17	4457360	4457360	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4457360T>C	uc002fyb.3	-	4	469	c.407A>G	c.(406-408)AAC>AGC	p.N136S	MYBBP1A_uc002fxz.3_Missense_Mutation_p.N136S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	136	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TCCAAACAGGTTTGCAAAGAG	0.592		NaN											0	0	0	1	0	47	8				
SMTNL2	342527	broad.mit.edu	37	17	4498617	4498617	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4498617C>T	uc002fyf.1	+	5	1051	c.984C>T	c.(982-984)GCC>GCT	p.A328A	SMTNL2_uc002fye.2_Silent_p.A184A	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	328											0				READ - Rectum adenocarcinoma(115;0.0325)		AAACGGCGGCCGGCAAGTACG	0.677		NaN											0	0	0	1	0	3	26				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:7577099C>G	uc002gim.2	-	8	1033	c.839G>C	c.(838-840)AGA>ACA	p.R280T	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	280	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	1	0	31	3		Valid		
PFAS	5198	broad.mit.edu	37	17	8157482	8157482	+	Splice_Site	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8157482A>C	uc002gkr.2	+	3	284	c.143_splice	c.e3-2	p.A48_splice	PFAS_uc010vuv.1_Splice_Site	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTCCCTGCAGCTGAGGCCC	0.582		NaN											0	0	0	1	0	20	16				
PIK3R5	23533	broad.mit.edu	37	17	8808182	8808182	+	Silent	SNP	G	G	A	rs144885920		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8808182G>A	uc002glt.2	-	5	391	c.324C>T	c.(322-324)ACC>ACT	p.T108T	PIK3R5_uc010vuz.1_Silent_p.T108T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.T108T|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	108					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						ACCGGTGGTAGGTGCTGGCTG	0.552		NaN											0	0	0	1	0	10	28				
MYH4	4622	broad.mit.edu	37	17	10362679	10362679	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:10362679G>C	uc002gmn.2	-	15	1587	c.1476C>G	c.(1474-1476)TTC>TTG	p.F492L	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGTGGTGGTTGAAAAACTGTT	0.473		NaN											0	0	0	1	0	26	64				
MYO15A	51168	broad.mit.edu	37	17	18045033	18045033	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:18045033G>C	uc010vxh.1	+	22	5936	c.5598G>C	c.(5596-5598)CTG>CTC	p.L1866L		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1866	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGTCAGTGCTGAGTCGCCTGT	0.582		NaN									OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	32	28				
EPN2	22905	broad.mit.edu	37	17	19235231	19235231	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:19235231C>G	uc002gvd.3	+	10	1925	c.1477C>G	c.(1477-1479)CAA>GAA	p.Q493E	EPN2_uc010cql.1_Missense_Mutation_p.Q202E|EPN2_uc002gve.3_Missense_Mutation_p.Q436E|EPN2_uc002gvf.3_Missense_Mutation_p.Q208E|EPN2_uc010vyo.1_Missense_Mutation_p.Q201E|EPN2_uc010vyp.1_Missense_Mutation_p.Q429E|EPN2_uc010vyq.1_Missense_Mutation_p.Q430E|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.Q156E	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	493	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTTGAGTCTCAACCCCTGAC	0.572		NaN											0	0	0	1	0	33	134				
CCDC144NL	339184	broad.mit.edu	37	17	20768765	20768765	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20768765C>A	uc002gyf.2	-	4	749	c.629G>T	c.(628-630)AGA>ATA	p.R210I	uc002gyg.1_5'Flank|uc002gyh.1_5'Flank	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	210											0						CTTCCCCTTTCTTTTTCCTCT	0.368		NaN											1	0	1.60099e-16	1	1.76978e-16	36	45				
CCDC144NL	339184	broad.mit.edu	37	17	20796765	20796765	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20796765G>C	uc002gyf.2	-	2	475	c.355C>G	c.(355-357)CTA>GTA	p.L119V	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	119											0						TCAGGAACTAGTTGCTGAATG	0.249		NaN											0	0	0	1	0	33	30				
SLC13A2	9058	broad.mit.edu	37	17	26824194	26824194	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:26824194C>T	uc002hbh.2	+	12	1753	c.1686C>T	c.(1684-1686)CTC>CTT	p.L562L	SLC13A2_uc010wam.1_Silent_p.L518L|SLC13A2_uc010wan.1_Silent_p.L611L|SLC13A2_uc010wao.1_Silent_p.L519L|SLC13A2_uc002hbi.2_Silent_p.L491L	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	562	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCCCCTCTTCAGCCTGC	0.612		NaN											0	0	0	1	0	60	87				
PHF12	57649	broad.mit.edu	37	17	27246266	27246266	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27246266C>G	uc002hdg.1	-	6	1394	c.864G>C	c.(862-864)CAG>CAC	p.Q288H	PHF12_uc010wbb.1_Missense_Mutation_p.Q270H|PHF12_uc002hdi.1_Missense_Mutation_p.Q284H|PHF12_uc002hdj.1_Missense_Mutation_p.Q288H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.Q71H	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	288	PHD-type 2; atypical.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AATAGTCACACTGGATGAGAG	0.502		NaN											0	0	0	1	0	7	29				
ABHD15	116236	broad.mit.edu	37	17	27893107	27893107	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27893107C>A	uc002hed.1	-	1	942	c.878G>T	c.(877-879)AGC>ATC	p.S293I	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	293						extracellular region	carboxylesterase activity				0						TACCCACCTGCTGAGGGCGAT	0.617		NaN											1	0	1.33834e-09	1	1.42971e-09	16	49				
EFCAB5	374786	broad.mit.edu	37	17	28380875	28380875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:28380875G>T	uc002het.2	+	10	2095	c.1903G>T	c.(1903-1905)GAA>TAA	p.E635*	EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E378*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E579*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E292*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E514*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E514*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	635							calcium ion binding			ovary(1)|skin(1)	2						GTCAGCTGCAGAACAGGGATC	0.443		NaN											1	0	8.04996e-18	1	8.92782e-18	23	101				
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986161C>G	uc002hho.1	-	17	2329	c.2317G>C	c.(2317-2319)GAG>CAG	p.E773Q	MYO1D_uc002hhp.1_Missense_Mutation_p.E773Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	773						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCCTCCTCAAAACGGCGA	0.517		NaN									OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	15	65				
MYO1D	4642	broad.mit.edu	37	17	30986208	30986208	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986208C>A	uc002hho.1	-	17	2282	c.2270G>T	c.(2269-2271)GGG>GTG	p.G757V	MYO1D_uc002hhp.1_Missense_Mutation_p.G757V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	757						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACGTGCTTCCCGTAGTCTCG	0.537		NaN									OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.85244e-09	1	1.9727e-09	23	93				
SLFN12	55106	broad.mit.edu	37	17	33749640	33749640	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:33749640G>C	uc002hji.3	-	2	785	c.408C>G	c.(406-408)GTC>GTG	p.V136V	SLFN12_uc002hjj.3_Silent_p.V136V|SLFN12_uc010cts.2_Silent_p.V136V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	136							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCATTCATGACTTTTGCAG	0.428		NaN											0	0	0	1	0	22	54				
ACACA	31	broad.mit.edu	37	17	35468485	35468485	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35468485G>C	uc002hnm.2	-	52	6626	c.6435C>G	c.(6433-6435)ATC>ATG	p.I2145M	ACACA_uc002hnk.2_Missense_Mutation_p.I2067M|ACACA_uc002hnl.2_Missense_Mutation_p.I2087M|ACACA_uc002hnn.2_Missense_Mutation_p.I2145M|ACACA_uc002hno.2_Missense_Mutation_p.I2182M|ACACA_uc010cuy.2_Missense_Mutation_p.I790M|ACACA_uc010wdb.1_Missense_Mutation_p.I183M|ACACA_uc010wdc.1_Missense_Mutation_p.I271M	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2145	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGCCAAGTGGATGTAGACTG	0.502		NaN											0	0	0	1	0	29	47				
TADA2A	6871	broad.mit.edu	37	17	35800675	35800675	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35800675C>T	uc002hnt.2	+	6	511	c.354C>T	c.(352-354)TTC>TTT	p.F118F	TADA2A_uc002hnu.1_Silent_p.F118F|TADA2A_uc002hnv.2_Silent_p.F118F|TADA2A_uc010wdd.1_Silent_p.F118F|TADA2A_uc002hnw.2_Silent_p.F17F|TADA2A_uc010cvb.2_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	118	SANT.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TGAAGCATTTCATCAATAACC	0.458		NaN											0	0	0	1	0	12	39				
SOCS7	30837	broad.mit.edu	37	17	36523881	36523881	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:36523881C>T	uc002hqa.2	+	6	1431	c.1308C>T	c.(1306-1308)CTC>CTT	p.L436L	SOCS7_uc010cvl.2_Silent_p.L402L|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	436	Mediates interaction with SORBS3.|SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					TCCTGAGCCTCAGTTTCCGAT	0.483		NaN											0	0	0	1	0	17	42				
IKZF3	22806	broad.mit.edu	37	17	37949123	37949123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37949123G>A	uc002hsu.2	-	4	289	c.227C>T	c.(226-228)CCC>CTC	p.P76L	IKZF3_uc002htd.2_Missense_Mutation_p.P42L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.P42L|IKZF3_uc010cwe.2_Missense_Mutation_p.P76L|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.P76L|IKZF3_uc002hsx.2_Missense_Mutation_p.P76L|IKZF3_uc002hsy.2_Missense_Mutation_p.P76L|IKZF3_uc002hsz.2_Missense_Mutation_p.P76L|IKZF3_uc002hta.2_Missense_Mutation_p.P76L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	76					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTCCCATGGGTTCTGACTT	0.353		NaN											0	0	0	1	0	29	47				
HCRT	3060	broad.mit.edu	37	17	40336367	40336367	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40336367G>C	uc002hzc.1	-	2	288	c.201C>G	c.(199-201)GGC>GGG	p.G67G		NM_001524	NP_001515	O43612	OREX_HUMAN	orexin precursor	67					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle					0		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACCTCCGCTTGCCCAGCGTGA	0.726		NaN											0	0	0	1	0	6	4				
DBF4B	80174	broad.mit.edu	37	17	42828010	42828010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:42828010G>C	uc002ihf.2	+	14	1450	c.1237G>C	c.(1237-1239)GAT>CAT	p.D413H	DBF4B_uc010wjc.1_Missense_Mutation_p.D397H	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	413					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				AGAATCACTAGATGGTGTGAT	0.607		NaN											0	0	0	1	0	13	40				
KIAA1267	284058	broad.mit.edu	37	17	44159875	44159875	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:44159875C>G	uc002ikb.2	-	3	1550	c.1465G>C	c.(1465-1467)GAG>CAG	p.E489Q	KIAA1267_uc002ikc.2_Missense_Mutation_p.E489Q|KIAA1267_uc002ikd.2_Missense_Mutation_p.E489Q|KIAA1267_uc010dav.2_Missense_Mutation_p.E489Q	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	489						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GTTGTATGCTCTGGGGGAGGT	0.398		NaN											0	0	0	1	0	28	27				
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:46111232C>T	uc002imy.2	-	7	278	c.265G>A	c.(265-267)GAG>AAG	p.E89K		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat					0						CACTTACTCTCAGTCCGGCTG	0.483		NaN											0	0	0	1	0	7	5				
XYLT2	64132	broad.mit.edu	37	17	48431301	48431301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48431301G>T	uc002iqo.2	+	2	555	c.446G>T	c.(445-447)GGC>GTC	p.G149V	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	149	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					AGCGTGGAGGGCGCCCCCCAG	0.687		NaN											1	0	4.68919e-08	1	4.947e-08	9	28				
EPN3	55040	broad.mit.edu	37	17	48616645	48616645	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48616645G>C	uc002ira.3	+	5	1295	c.860G>C	c.(859-861)AGA>ACA	p.R287T	EPN3_uc010wms.1_Missense_Mutation_p.R315T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.R260T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	287						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGAGAAGAGAGAAAGGAGGAG	0.542		NaN											0	0	0	1	0	10	36				
TEX14	56155	broad.mit.edu	37	17	56693643	56693643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:56693643C>G	uc010dcz.1	-	7	796	c.678G>C	c.(676-678)CAG>CAC	p.Q226H	TEX14_uc002iwr.1_Missense_Mutation_p.Q220H|TEX14_uc002iws.1_Missense_Mutation_p.Q220H|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	226						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATAGGCCATCTGTGTCGCCC	0.478		NaN											0	0	0	1	0	10	66				
CLTC	1213	broad.mit.edu	37	17	57743482	57743482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:57743482G>A	uc002ixq.1	+	11	2106	c.1663G>A	c.(1663-1665)GAA>AAA	p.E555K	CLTC_uc002ixp.2_Missense_Mutation_p.E555K|CLTC_uc002ixr.1_Missense_Mutation_p.E559K	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	555	Heavy chain arm.|Distal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTCTTTATGGAATACAATCT	0.333		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	1	0	9	26				
TBX4	9496	broad.mit.edu	37	17	59560332	59560332	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:59560332C>T	uc002izi.2	+	8	1138	c.1093C>T	c.(1093-1095)CAC>TAC	p.H365Y	TBX4_uc010ddo.2_Missense_Mutation_p.H366Y|TBX4_uc010woy.1_Missense_Mutation_p.H366Y	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	365					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GGGGGAGGATCACTATTTCCG	0.552		NaN											0	0	0	1	0	9	26				
TANC2	26115	broad.mit.edu	37	17	61488930	61488930	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:61488930G>A	uc002jal.3	+	20	3449	c.3426G>A	c.(3424-3426)TTG>TTA	p.L1142L	TANC2_uc010wpe.1_Silent_p.L1052L|TANC2_uc002jao.3_Silent_p.L243L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1142	ANK 9.						binding			ovary(2)	2						GGGCTTGTTTGAAGGGCCATC	0.527		NaN											0	0	0	1	0	23	66				
ABCA9	10350	broad.mit.edu	37	17	67023212	67023212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:67023212G>C	uc002jhu.2	-	15	2098	c.1955C>G	c.(1954-1956)TCA>TGA	p.S652*	ABCA9_uc010dez.2_Nonsense_Mutation_p.S652*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	652	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCGGTGCCTTGAAAGAGGATC	0.438		NaN											0	0	0	1	0	24	46				
C17orf80	55028	broad.mit.edu	37	17	71231891	71231891	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:71231891G>T	uc002jjm.3	+	3	464	c.270G>T	c.(268-270)GTG>GTT	p.V90V	C17orf80_uc010wqu.1_Silent_p.V90V|C17orf80_uc010dfj.2_Silent_p.V90V|C17orf80_uc002jjk.1_Silent_p.V90V|C17orf80_uc002jjl.3_Silent_p.V90V	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	90	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			AACAGACAGTGAAGACCTTTC	0.388		NaN											1	0	5.03518e-11	1	5.42456e-11	19	36				
KIF19	124602	broad.mit.edu	37	17	72350300	72350300	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72350300G>C	uc002jkm.3	+	18	2447	c.2309_splice	c.e18-1	p.E770_splice		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TCCCGCTGCAGAGAGGAAGGA	0.587		NaN											0	0	0	1	0	21	76				
GPR142	350383	broad.mit.edu	37	17	72366737	72366737	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72366737G>C	uc010wqy.1	+	3	436	c.436G>C	c.(436-438)GAG>CAG	p.E146Q	GPR142_uc010wqx.1_Missense_Mutation_p.E58Q	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	146	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CCACTGGCCAGAGATCGCAGA	0.647		NaN											0	0	0	1	0	15	33				
KIAA0195	9772	broad.mit.edu	37	17	73491026	73491026	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73491026C>G	uc002jnz.3	+	20	2914	c.2639C>G	c.(2638-2640)TCC>TGC	p.S880C	KIAA0195_uc010wsa.1_Missense_Mutation_p.S890C|KIAA0195_uc010wsb.1_Missense_Mutation_p.S520C|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	880					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCACATCTCCCTCACACCC	0.582		NaN											0	0	0	1	0	36	80				
H3F3B	3021	broad.mit.edu	37	17	73775024	73775024	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73775024C>G	uc002jpl.2	-	3	282	c.149G>C	c.(148-150)CGA>CCA	p.R50P		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	50					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			ovary(1)	1	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAATCTCTCGAAGCGCCAC	0.652		NaN									OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	35				
UNC13D	201294	broad.mit.edu	37	17	73830498	73830498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73830498G>A	uc002jpp.2	-	23	2586	c.2206C>T	c.(2206-2208)CAG>TAG	p.Q736*	UNC13D_uc010wsk.1_Nonsense_Mutation_p.Q736*|UNC13D_uc002jpq.1_Nonsense_Mutation_p.Q386*	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	736					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGCAGCTGCCCCTGCTCC	0.692		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	1	0	10	3				
QRICH2	84074	broad.mit.edu	37	17	74274098	74274098	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:74274098G>C	uc002jrd.1	-	15	4771	c.4591C>G	c.(4591-4593)CAG>GAG	p.Q1531E	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.Q375E	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1531							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CCCAGGCACTGGGCGTGCAGC	0.627		NaN											0	0	0	1	0	24	71				
EIF4A3	9775	broad.mit.edu	37	17	78111251	78111251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:78111251G>C	uc010wuc.1	-	10	990	c.917C>G	c.(916-918)TCA>TGA	p.S306*	EIF4A3_uc002jxs.2_Nonsense_Mutation_p.S306*	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	306	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCATGCATTGAGGATACAGT	0.532		NaN											0	0	0	1	0	12	15				
PYCR1	5831	broad.mit.edu	37	17	79893381	79893381	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:79893381C>T	uc002kcr.1	-	3	428	c.150G>A	c.(148-150)GTG>GTA	p.V50V	PYCR1_uc002kcq.1_Silent_p.V50V|PYCR1_uc002kcp.2_Silent_p.V50V|PYCR1_uc002kcs.1_Silent_p.V50V|PYCR1_uc010wvd.1_Silent_p.V77V|PYCR1_uc002kct.1_Silent_p.V50V|PYCR1_uc002kcu.1_Silent_p.V50V|PYCR1_uc010wve.1_Silent_p.V3V	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	50					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GTGTCAACTTCACCCCCATCT	0.582		NaN											0	0	0	1	0	6	16				
CLUL1	27098	broad.mit.edu	37	18	641518	641518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:641518G>C	uc002kkp.2	+	7	1331	c.1186G>C	c.(1186-1188)GAG>CAG	p.E396Q	CLUL1_uc010wys.1_Missense_Mutation_p.E448Q|CLUL1_uc002kkq.2_Missense_Mutation_p.E396Q	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	396					cell death	extracellular region				ovary(2)	2						CCCAGAAACAGAGATCATCTT	0.458		NaN											0	0	0	1	0	20	29				
MYOM1	8736	broad.mit.edu	37	18	3129355	3129355	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:3129355T>A	uc002klp.2	-	18	3003	c.2669A>T	c.(2668-2670)AAC>ATC	p.N890I	MYOM1_uc002klq.2_Intron	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	890						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGGCCCAGGTTTTGAGAGCT	0.522		NaN									OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	39	122				
RAB12	201475	broad.mit.edu	37	18	8624969	8624969	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8624969G>C	uc002knp.2	+	2	543	c.260G>C	c.(259-261)AGA>ACA	p.R87T		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	87					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GTAGAGCTAAGAGGAAAGAAA	0.333		NaN											0	0	0	1	0	31	130				
KIAA0802	23255	broad.mit.edu	37	18	8793020	8793020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8793020G>C	uc002knr.2	+	8	2054	c.1912G>C	c.(1912-1914)GAG>CAG	p.E638Q	KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0						CGTTTTACCTGAGCAGAGTGT	0.527		NaN											0	0	0	1	0	40	130				
SEH1L	81929	broad.mit.edu	37	18	12948141	12948141	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:12948141C>T	uc002krr.2	+	1	159	c.21C>T	c.(19-21)ATC>ATT	p.I7I	SEH1L_uc002krq.2_Silent_p.I7I	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	7					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0						CTCGCAGCATCGCGGCGGACC	0.672		NaN											0	0	0	1	0	7	14				
IMPACT	55364	broad.mit.edu	37	18	22008854	22008854	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:22008854C>G	uc002kvh.3	+	3	299	c.187C>G	c.(187-189)CCA>GCA	p.P63A	IMPACT_uc002kvg.3_Missense_Mutation_p.P45A	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	63	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAATGAATACCCAGGTACAGC	0.353		NaN											0	0	0	1	0	12	48				
MYO5B	4645	broad.mit.edu	37	18	47404156	47404156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:47404156C>T	uc002leb.2	-	25	3661	c.3373G>A	c.(3373-3375)GAG>AAG	p.E1125K	MYO5B_uc002lea.2_Missense_Mutation_p.E266K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1125	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AGGGCATCCTCAGTGTCTCCG	0.512		NaN											0	0	0	1	0	53	28				
SERPINB2	5055	broad.mit.edu	37	18	61570328	61570328	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:61570328G>A	uc010xeu.1	+	9	1370	c.1037G>A	c.(1036-1038)AGG>AAG	p.R346K	SERPINB2_uc002ljo.2_Missense_Mutation_p.R346K|SERPINB2_uc010dqh.2_Missense_Mutation_p.R276K|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	346					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTCGGAGAGGAATGACCTG	0.507		NaN											0	0	0	1	0	8	28				
CDH7	1005	broad.mit.edu	37	18	63526160	63526160	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:63526160G>C	uc002ljz.2	+	9	1698	c.1373_splice	c.e9-1	p.Q458_splice	CDH7_uc002lka.2_Splice_Site_p.Q458_splice|CDH7_uc002lkb.2_Splice_Site_p.Q458_splice	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTATTTATTAGAGAATCCATC	0.373		NaN											0	0	0	1	0	13	20				
NETO1	81832	broad.mit.edu	37	18	70532056	70532056	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:70532056G>C	uc002lkw.2	-	3	491	c.207C>G	c.(205-207)ATC>ATG	p.I69M	NETO1_uc002lkx.1_Missense_Mutation_p.I68M|NETO1_uc002lky.1_Missense_Mutation_p.I69M|NETO1_uc002lkz.2_Missense_Mutation_p.I68M	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	69	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGATGTAGATGCATTCCC	0.473		NaN											0	0	0	1	0	17	36				
CNDP1	84735	broad.mit.edu	37	18	72226648	72226648	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72226648G>T	uc002llq.2	+	3	455	c.244G>T	c.(244-246)GCG>TCG	p.A82S	uc002llr.2_RNA	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	82					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGCCGTGGCTGCGGACACGCT	0.622		NaN											1	0	0.000602214	1	0.000612452	5	51				
ZNF407	55628	broad.mit.edu	37	18	72345042	72345042	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72345042C>A	uc002llw.2	+	1	2124	c.2067C>A	c.(2065-2067)TCC>TCA	p.S689S	ZNF407_uc010xfc.1_Silent_p.S689S|ZNF407_uc010dqu.1_Silent_p.S689S|ZNF407_uc002llu.2_Silent_p.S688S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTCTGAAGTCCAGGGTAAGCC	0.398		NaN											1	0	6.40141e-05	1	6.58264e-05	11	33				
PTBP1	5725	broad.mit.edu	37	19	804643	804643	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:804643G>A	uc002lpr.2	+	6	653	c.547G>A	c.(547-549)GTG>ATG	p.V183M	PTBP1_uc002lpp.2_Missense_Mutation_p.V183M|PTBP1_uc002lpq.2_Missense_Mutation_p.V183M|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.V153M	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	183					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCCCCGTGCTCAGGAT	0.677		NaN											0	0	0	1	0	18	25				
KLF16	83855	broad.mit.edu	37	19	1863162	1863162	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:1863162G>C	uc002luc.2	-	1	403	c.335C>G	c.(334-336)TCG>TGG	p.S112W	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	112	Ser-rich.|Ala/Pro-rich.					nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggcgcggcccgaggacgggga	0.448		NaN											0	0	0	1	0	2	0				
DOT1L	84444	broad.mit.edu	37	19	2217074	2217074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:2217074G>C	uc002lvb.3	+	21	2565	c.2529G>C	c.(2527-2529)GAG>GAC	p.E843D	DOT1L_uc002lvc.1_Missense_Mutation_p.E137D|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E137D	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	843						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTGGAGAGAAGAGCAGTG	0.687		NaN											0	0	0	1	0	6	16		Valid		
DPP9	91039	broad.mit.edu	37	19	4689638	4689638	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:4689638C>T	uc002mba.2	-	15	1951	c.1693G>A	c.(1693-1695)GGC>AGC	p.G565S		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	536					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACGATCTCGCCGGCCGCCTCA	0.652		NaN											0	0	0	1	0	2	2				
RANBP3	8498	broad.mit.edu	37	19	5927994	5927994	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:5927994C>G	uc002mdw.2	-	9	1025	c.798G>C	c.(796-798)TTG>TTC	p.L266F	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.L261F|RANBP3_uc002mdy.2_Missense_Mutation_p.L198F|RANBP3_uc002mdz.2_Missense_Mutation_p.L193F|RANBP3_uc010duq.2_Missense_Mutation_p.L171F|RANBP3_uc002mea.2_Missense_Mutation_p.L133F|RANBP3_uc010xix.1_Missense_Mutation_p.L138F	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	266					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CTCTGTCCCTCAAGTTCTGCC	0.463		NaN											0	0	0	1	0	74	55				
TUBB4	10382	broad.mit.edu	37	19	6495749	6495749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6495749G>C	uc002mfg.1	-	4	868	c.761C>G	c.(760-762)GCC>GGC	p.A254G	TUBB4_uc002mff.1_Missense_Mutation_p.A182G|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	254					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CATGTTGACGGCCAGCTTGCG	0.682		NaN											0	0	0	1	0	18	110				
TNFSF14	8740	broad.mit.edu	37	19	6665079	6665079	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6665079G>A	uc002mfk.1	-	5	963	c.581C>T	c.(580-582)TCC>TTC	p.S194F	TNFSF14_uc002mfj.1_Missense_Mutation_p.S158F	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	194	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						CCAGACCCGGGAGCTGCTGGT	0.657		NaN											0	0	0	1	0	26	56				
PNPLA6	10908	broad.mit.edu	37	19	7615490	7615490	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:7615490G>A	uc010xjq.1	+	18	2256	c.2061G>A	c.(2059-2061)CTG>CTA	p.L687L	PNPLA6_uc002mgq.1_Silent_p.L639L|PNPLA6_uc010xjp.1_Silent_p.L613L|PNPLA6_uc002mgr.1_Silent_p.L639L|PNPLA6_uc002mgs.2_Silent_p.L678L	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	678	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						AGAAGGAGCTGGTGGGCGAGT	0.662		NaN											0	0	0	1	0	17	22				
OR2Z1	284383	broad.mit.edu	37	19	8841489	8841489	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8841489C>T	uc010xkg.1	+	1	99	c.99C>T	c.(97-99)GTC>GTT	p.V33V		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TGGTGGCTGTCATGTTTGTCA	0.552		NaN											0	0	0	1	0	36	66				
MUC16	94025	broad.mit.edu	37	19	8969428	8969428	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8969428C>G	uc002mkp.2	-	79	43121	c.42917_splice	c.e79-1	p.E14306_splice	MUC16_uc010dwi.2_Splice_Site|MUC16_uc010dwj.2_Splice_Site_p.E1106_splice|MUC16_uc010xki.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACTCCATTTCTAGAATTAAA	0.403		NaN											0	0	0	1	0	24	16				
MUC16	94025	broad.mit.edu	37	19	9083460	9083460	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:9083460C>G	uc002mkp.2	-	1	8559	c.8355G>C	c.(8353-8355)GTG>GTC	p.V2785V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2785	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTAGTGGCATCACAGATGCCC	0.502		NaN											0	0	0	1	0	8	40				
TYK2	7297	broad.mit.edu	37	19	10476364	10476364	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10476364C>G	uc002moc.3	-	7	1218	c.840G>C	c.(838-840)CTG>CTC	p.L280L	TYK2_uc010dxe.2_Silent_p.L95L|TYK2_uc002mod.2_Silent_p.L280L	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	280	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCAGCCTCAGGTGGCACA	0.687		NaN											0	0	0	1	0	16	30				
TYK2	7297	broad.mit.edu	37	19	10478979	10478979	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10478979G>A	uc002moc.3	-	4	687	c.309C>T	c.(307-309)TTC>TTT	p.F103F	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F103F	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	103	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCTTATGCGGAAATATAGCA	0.557		NaN											0	0	0	1	0	76	92				
DNM2	1785	broad.mit.edu	37	19	10930726	10930726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10930726C>T	uc002mps.1	+	16	1906	c.1742C>T	c.(1741-1743)TCC>TTC	p.S581F	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.S581F|DNM2_uc002mpv.1_Missense_Mutation_p.S577F|DNM2_uc002mpu.1_Missense_Mutation_p.S577F|DNM2_uc010dxl.1_Missense_Mutation_p.S581F|DNM2_uc002mpw.2_Missense_Mutation_p.S310F|uc010xlj.1_5'Flank|MIR199A1_hsa-mir-199a-1|MI0000242_5'Flank	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	581	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTTCATGTCCAACAAGCAC	0.562		NaN											0	0	0	1	0	32	103				
SMARCA4	6597	broad.mit.edu	37	19	11138491	11138491	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11138491G>A	uc002mqf.3	+	24	3531	c.3247G>A	c.(3247-3249)GAG>AAG	p.E1083K	SMARCA4_uc010dxp.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E1083K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1083K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1083K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1083K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E303K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E206K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E286K	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1083					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGTAAATTTGAGCTTCTTGA	0.517		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	1	0	64	66		Valid		
ZNF491	126069	broad.mit.edu	37	19	11917579	11917579	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11917579C>G	uc002mso.1	+	3	1096	c.811C>G	c.(811-813)CAT>GAT	p.H271D		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	271	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGAGAGGCCTCATAAATGTAA	0.408		NaN											0	0	0	1	0	39	54				
ZNF878	729747	broad.mit.edu	37	19	12155622	12155622	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12155622G>A	uc002mta.1	-	5	735	c.735C>T	c.(733-735)CCC>CCT	p.P245P		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TACATTCATAGGGTTTTTTTG	0.388		NaN											0	0	0	1	0	114	121				
ZNF878	729747	broad.mit.edu	37	19	12156003	12156003	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12156003G>C	uc002mta.1	-	5	354	c.354C>G	c.(352-354)CTC>CTG	p.L118L		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TACTTTCAGAGAGTCTCTCCC	0.353		NaN											0	0	0	1	0	10	16				
ZNF878	729747	broad.mit.edu	37	19	12157504	12157504	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12157504C>A	uc002mta.1	-	3	216	c.216G>T	c.(214-216)CAG>CAT	p.Q72H		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGAGATTTTTCTGGGAAGGAT	0.478		NaN											1	0	2.02627e-32	1	2.28715e-32	67	88				
CC2D1A	54862	broad.mit.edu	37	19	14040949	14040949	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:14040949G>C	uc002mxo.2	+	27	3068	c.2769G>C	c.(2767-2769)CTG>CTC	p.L923L	CC2D1A_uc002mxp.2_Silent_p.L922L|CC2D1A_uc010dzh.2_Silent_p.L492L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	923					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCGGCGCCTGGGCAACGATG	0.692		NaN											0	0	0	1	0	10	46				
CYP4F8	11283	broad.mit.edu	37	19	15728816	15728816	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:15728816T>G	uc002nbi.2	+	3	268	c.204T>G	c.(202-204)ACT>ACG	p.T68T	CYP4F8_uc010xoi.1_Silent_p.T68T|CYP4F8_uc010xoj.1_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	68					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1						TGCAGGTCACTCCCACAGAGG	0.413		NaN											0	0	0	1	0	11	47				
USE1	55850	broad.mit.edu	37	19	17327021	17327021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17327021C>G	uc002nfo.2	+	4	335	c.275C>G	c.(274-276)CCT>CGT	p.P92R	USE1_uc002nfn.2_Missense_Mutation_p.P92R|USE1_uc010eal.1_Missense_Mutation_p.P92R	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	92	Cytoplasmic (Potential).				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TTCCTGGCCCCTGGCCGTGTG	0.607		NaN											0	0	0	1	0	10	45				
GTPBP3	84705	broad.mit.edu	37	19	17452366	17452366	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17452366C>G	uc010eas.2	+	9	1398	c.1333C>G	c.(1333-1335)CTC>GTC	p.L445V	GTPBP3_uc010xpo.1_Missense_Mutation_p.L467V|GTPBP3_uc002ngh.3_Missense_Mutation_p.L424V|GTPBP3_uc002ngg.3_Missense_Mutation_p.L477V|GTPBP3_uc002ngi.3_Missense_Mutation_p.L111V	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	445					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						CCTGGATGCCCTCGGCCACTA	0.657		NaN											0	0	0	1	0	20	55				
NXNL1	115861	broad.mit.edu	37	19	17571379	17571379	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17571379G>T	uc002ngs.2	-	1	347	c.300C>A	c.(298-300)TTC>TTA	p.F100L		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	100	Thioredoxin.				cell redox homeostasis	nuclear outer membrane					0						CAAAGGGCAGGAAAAGCCATT	0.378		NaN											1	0	6.38683e-12	1	6.92474e-12	26	28				
MPV17L2	84769	broad.mit.edu	37	19	18304802	18304802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:18304802C>T	uc002nid.2	+	2	368	c.316C>T	c.(316-318)CAG>TAG	p.Q106*	MPV17L2_uc010ebj.2_Nonsense_Mutation_p.Q42*	NM_032683	NP_116072	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	106	Helical; (Potential).					integral to membrane					0						CCTCGTGGATCAGCTGGTAGC	0.592		NaN											0	0	0	1	0	13	34				
SLC25A42	284439	broad.mit.edu	37	19	19218757	19218757	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:19218757G>A	uc002nlf.1	+	7	703	c.552G>A	c.(550-552)AAG>AAA	p.K184K		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	184	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AGGGGCTGAAGACTCTCTACC	0.562		NaN											0	0	0	1	0	84	66				
ZNF99	7652	broad.mit.edu	37	19	22939880	22939880	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:22939880A>T	uc010xrh.1	-	6	2451	c.2451T>A	c.(2449-2451)CTT>CTA	p.L817L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGTTTCTTAAGGGTTGAGG	0.383		NaN											0	0	0	1	0	16	102				
C19orf40	91442	broad.mit.edu	37	19	33467501	33467501	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:33467501G>C	uc002nud.3	+	5	679	c.561G>C	c.(559-561)CTG>CTC	p.L187L		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	187	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TCCAGCAACTGAGTAATGCTT	0.557		NaN						Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	30	132				
SCN1B	6324	broad.mit.edu	37	19	35530030	35530030	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:35530030A>T	uc002nxp.2	+	4	649	c.458A>T	c.(457-459)GAC>GTC	p.D153V	SCN1B_uc010xsg.1_Missense_Mutation_p.D82V|HPN_uc002nxq.1_5'Flank|HPN_uc002nxr.1_5'Flank|HPN_uc002nxs.1_5'Flank	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	153	Extracellular (Potential).				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCAACAGAGACATGGCATCC	0.363		NaN											0	0	0	1	0	97	85				
DMKN	93099	broad.mit.edu	37	19	36002341	36002341	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36002341C>A	uc002nzm.3	-	5	1073	c.890G>T	c.(889-891)AGA>ATA	p.R297I	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Missense_Mutation_p.R297I|DMKN_uc010eeb.2_Missense_Mutation_p.R297I|DMKN_uc002oaa.3_Missense_Mutation_p.R297I|DMKN_uc002oab.3_Missense_Mutation_p.R297I	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	297	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTCACCTctgctgccacc	0.318		NaN											1	0	0.004672	1	0.00472309	3	23				
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36357214C>A	uc002ocb.3	+	15	2159	c.1947C>A	c.(1945-1947)GTC>GTA	p.V649V	KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.V596V|KIRREL2_uc002ocd.3_Silent_p.V611V|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	649	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCATGGTCCCCCCCTGCA	0.627		NaN											1	0	1.37285e-15	1	1.51267e-15	17	106				
WDR62	284403	broad.mit.edu	37	19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36593683G>A	uc002odc.2	+	27	3341	c.3250G>A	c.(3250-3252)GAA>AAA	p.E1084K	WDR62_uc002odd.2_Missense_Mutation_p.E1089K	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1084					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617		NaN											0	0	0	1	0	15	54				
COX7A1	1346	broad.mit.edu	37	19	36642380	36642380	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36642380C>T	uc002odm.1	-	3	633	c.171G>A	c.(169-171)ATG>ATA	p.M57I		NM_001864	NP_001855	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1	57	Helical; (By similarity).				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACACAGCGTCATTGTCACTC	0.617		NaN											0	0	0	1	0	9	77				
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39103253G>C	uc002oix.1	-	9	771	c.663C>G	c.(661-663)CTC>CTG	p.L221L	MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607		NaN											0	0	0	1	0	30	26				
ACTN4	81	broad.mit.edu	37	19	39208629	39208629	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39208629G>A	uc002oja.1	+	11	1265	c.1206G>A	c.(1204-1206)CTG>CTA	p.L402L	ACTN4_uc010egc.1_Silent_p.L402L	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	402	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTGGCTGCTGAATGAGATCC	0.627		NaN											0	0	0	1	0	5	10				
NFKBIB	4793	broad.mit.edu	37	19	39396010	39396010	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39396010C>T	uc002ojw.2	+	3	512	c.454C>T	c.(454-456)CGG>TGG	p.R152W	NFKBIB_uc002ojx.2_Missense_Mutation_p.R120W|NFKBIB_uc002ojy.2_Missense_Mutation_p.R152W	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	152	ANK 3.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCCGCCCCCGGCGCCCCAG	0.711		NaN											0	0	0	1	0	44	21				
FCGBP	8857	broad.mit.edu	37	19	40368511	40368511	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40368511G>A	uc002omp.3	-	28	12845	c.12837C>T	c.(12835-12837)TTC>TTT	p.F4279F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4279	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGTCCGCAGAAGCCAGGGC	0.642		NaN											0	0	0	1	0	9	29				
FCGBP	8857	broad.mit.edu	37	19	40433168	40433168	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40433168G>A	uc002omp.3	-	2	1109	c.1101C>T	c.(1099-1101)ATC>ATT	p.I367I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	367	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGCCCGCTGATAGCCTTCG	0.612		NaN											0	0	0	1	0	20	42				
SPTBN4	57731	broad.mit.edu	37	19	41066206	41066206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41066206G>A	uc002ony.2	+	27	5898	c.5812G>A	c.(5812-5814)GTC>ATC	p.V1938I	SPTBN4_uc002onx.2_Missense_Mutation_p.V1938I|SPTBN4_uc002onz.2_Missense_Mutation_p.V1938I|SPTBN4_uc010egx.2_Missense_Mutation_p.V681I|SPTBN4_uc002ooa.2_Missense_Mutation_p.V614I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1938	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCTGCATGTCAGCTCCAC	0.647		NaN											0	0	0	1	0	33	120				
CYP2A6	1548	broad.mit.edu	37	19	41352802	41352802	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41352802G>C	uc002opl.3	-	5	830	c.809C>G	c.(808-810)TCC>TGC	p.S270C	CYP2A6_uc010ehe.1_Missense_Mutation_p.S66C|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	270					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GATGAGAAAGGAGTCAATGAA	0.582		NaN											0	0	0	1	0	9	76				
ZNF574	64763	broad.mit.edu	37	19	42585402	42585402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42585402G>C	uc002osm.3	+	2	2813	c.2644G>C	c.(2644-2646)GAG>CAG	p.E882Q	ZNF574_uc002osk.3_Missense_Mutation_p.E972Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGAAGCCATTGAGATCTACCC	0.642		NaN											0	0	0	1	0	50	48				
ZNF526	116115	broad.mit.edu	37	19	42728831	42728831	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42728831G>A	uc002osz.1	+	3	432	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				TGACCACACAGAATGTTGGCC	0.617		NaN											0	0	0	1	0	37	63				
MEGF8	1954	broad.mit.edu	37	19	42837807	42837807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42837807G>A	uc002otl.3	+	2	873	c.238G>A	c.(238-240)GAG>AAG	p.E80K		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	80	Extracellular (Potential).|CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CCTGGACACAGAGTGCACGTA	0.617		NaN											0	0	0	1	0	21	90				
ZNF45	7596	broad.mit.edu	37	19	44418392	44418392	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44418392C>T	uc002oxu.1	-	4	1295	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	ZNF45_uc002oxw.1_Missense_Mutation_p.R399Q|ZNF45_uc002oxv.1_Missense_Mutation_p.R399Q	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	399	C2H2-type 9.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ATTTGAGGCCCGGCAGAAGCC	0.502		NaN											0	0	0	1	0	53	85				
ZNF223	7766	broad.mit.edu	37	19	44570825	44570825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44570825C>G	uc002oyf.1	+	5	1097	c.844C>G	c.(844-846)CAC>GAC	p.H282D	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	282	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				TCAGAGAATTCACACAGGGGA	0.423		NaN											0	0	0	1	0	112	188				
ZNF223	7766	broad.mit.edu	37	19	44571219	44571219	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44571219C>G	uc002oyf.1	+	5	1491	c.1238C>G	c.(1237-1239)TCA>TGA	p.S413*	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	413	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				AGACAGGCCTCAAGTATTTTG	0.423		NaN											0	0	0	1	0	13	131				
ERCC1	2067	broad.mit.edu	37	19	45926592	45926592	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:45926592G>A	uc002pbs.1	-	2	187	c.41C>T	c.(40-42)TCA>TTA	p.S14L	ERCC1_uc002pbt.1_Missense_Mutation_p.S14L|ERCC1_uc002pbu.1_Missense_Mutation_p.S14L|ERCC1_uc002pbv.2_Missense_Mutation_p.S14L	NM_001983	NP_001974	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isofrom 2	14					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TGGCGGCCCTGAGGGCTGGGG	0.622		NaN						NER					0	0	0	1	0	5	19				
PNMAL2	57469	broad.mit.edu	37	19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:46998632C>T	uc002pes.2	-	1	538	c.91G>A	c.(91-93)GAG>AAG	p.E31K	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	31										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.03		NaN											0	0	0	1	0	18	65				
PRKD2	25865	broad.mit.edu	37	19	47195050	47195050	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47195050G>A	uc002pfh.2	-	13	1986	c.1644C>T	c.(1642-1644)GTC>GTT	p.V548V	PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'Flank|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Silent_p.V68V|PRKD2_uc002pff.2_Silent_p.V68V|PRKD2_uc002pfg.2_Silent_p.V391V|PRKD2_uc002pfi.2_Silent_p.V548V|PRKD2_uc002pfj.2_Silent_p.V548V|PRKD2_uc010xye.1_Silent_p.V548V|PRKD2_uc002pfk.2_Silent_p.V391V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	548					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGATCTGGTAGACAGTGGCAA	0.577		NaN											0	0	0	1	0	27	57				
GRLF1	2909	broad.mit.edu	37	19	47423316	47423316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423316G>C	uc010ekv.2	+	1	1384	c.1384G>C	c.(1384-1386)GAG>CAG	p.E462Q		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	462	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		TATTATGAATGAGGATTTCTA	0.403		NaN											0	0	0	1	0	17	37				
GRLF1	2909	broad.mit.edu	37	19	47423403	47423403	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423403G>C	uc010ekv.2	+	1	1471	c.1471G>C	c.(1471-1473)GAA>CAA	p.E491Q		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	491	FF 4.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AGCAAAGGAAGAATTTCAGGA	0.368		NaN											0	0	0	1	0	30	54				
GRLF1	2909	broad.mit.edu	37	19	47424472	47424472	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47424472G>C	uc010ekv.2	+	1	2540	c.2540G>C	c.(2539-2541)AGA>ACA	p.R847T		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	847					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		TTTAGCATCAGAAAGAGCCGG	0.423		NaN											0	0	0	1	0	65	84				
LIG1	3978	broad.mit.edu	37	19	48640828	48640828	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48640828G>A	uc002pia.1	-	13	1325	c.1205C>T	c.(1204-1206)TCC>TTC	p.S402F	LIG1_uc010xze.1_Missense_Mutation_p.S95F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.S334F|LIG1_uc010xzg.1_Missense_Mutation_p.S371F|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	402					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAAGACCCCGGAGGCAGTGAG	0.677		NaN						NER					0	0	0	1	0	33	25				
LIG1	3978	broad.mit.edu	37	19	48643250	48643250	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48643250G>C	uc002pia.1	-	12	1185	c.1065C>G	c.(1063-1065)CTC>CTG	p.L355L	LIG1_uc010xze.1_Silent_p.L48L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.L287L|LIG1_uc010xzg.1_Silent_p.L324L|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	355					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCACTGCCTTGAGAAGGACAC	0.622		NaN						NER					0	0	0	1	0	29	123				
LIG1	3978	broad.mit.edu	37	19	48660322	48660322	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48660322C>T	uc002pia.1	-	5	439	c.319G>A	c.(319-321)GAC>AAC	p.D107N	LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.D107N|LIG1_uc010xzg.1_Missense_Mutation_p.D77N|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	107					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGAGAGGTGTCAGAGAGGGAA	0.577		NaN						NER					0	0	0	1	0	20	136				
PLEKHA4	57664	broad.mit.edu	37	19	49341304	49341304	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49341304C>G	uc002pkx.2	-	19	2598	c.2047G>C	c.(2047-2049)GAG>CAG	p.E683Q	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_Nonstop_Mutation_p.*178S|PLEKHA4_uc010eml.2_Nonstop_Mutation_p.*584S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	683						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGCGACGCCTCAGTAGCCAGG	0.542		NaN											0	0	0	1	0	14	94				
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49481247G>C	uc002plp.2	-	10	1483	c.1242C>G	c.(1240-1242)CCC>CCG	p.P414P	GYS1_uc010xzy.1_Silent_p.P47P|GYS1_uc010emm.2_Silent_p.P350P|GYS1_uc010xzz.1_Silent_p.P334P|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542		NaN											0	0	0	1	0	13	99				
KLK5	25818	broad.mit.edu	37	19	51452167	51452167	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51452167A>G	uc002pue.2	-	5	758	c.540T>C	c.(538-540)TCT>TCC	p.S180S	KLK5_uc002puf.2_Silent_p.S180S|KLK5_uc002pug.2_Silent_p.S180S	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	180	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTGTCCCAGCAGAGGGACAAT	0.532		NaN											0	0	0	1	0	32	67				
KLK6	5653	broad.mit.edu	37	19	51466738	51466738	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51466738C>G	uc002pui.2	-	5	525	c.265G>C	c.(265-267)GTT>CTT	p.V89L	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.V98L|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_5'UTR|KLK6_uc002pul.2_Missense_Mutation_p.V89L|KLK6_uc002pum.2_5'UTR	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	89	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCCCGGACAACAGAACTCTGC	0.572		NaN											0	0	0	1	0	13	79				
ZNF836	162962	broad.mit.edu	37	19	52663800	52663800	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:52663800C>T	uc010ydi.1	-	4	434	c.60G>A	c.(58-60)GAG>GAA	p.E20E	ZNF836_uc010ydj.1_Silent_p.E20E	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTCCACTCCTCCTGAGAGA	0.438		NaN											0	0	0	1	0	55	195				
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:52942411G>A	uc002pzk.2	+	4	1798	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	579	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACACCTTGCGCGACATAGGA	0.443		NaN											0	0	0	1	0	4	23				
ZNF816A	125893	broad.mit.edu	37	19	53456059	53456059	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53456059C>G	uc002qal.1	-	4	436	c.135G>C	c.(133-135)CAG>CAC	p.Q45H	ZNF321_uc010eqj.2_Missense_Mutation_p.Q29H|ZNF321_uc002qak.1_Missense_Mutation_p.Q29H|ZNF816A_uc002qam.1_Missense_Mutation_p.Q29H	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		ATAAAGCCCTCTGTGCAGGGT	0.458		NaN											0	0	0	1	0	85	223				
ZNF665	79788	broad.mit.edu	37	19	53668107	53668107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53668107C>T	uc010eqm.1	-	4	1736	c.1636G>A	c.(1636-1638)GAT>AAT	p.D546N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	481	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCGCAATCATTACATTTG	0.388		NaN											0	0	0	1	0	175	81				
ZNF761	388561	broad.mit.edu	37	19	53958226	53958226	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53958226G>C	uc010eqp.2	+	7	923	c.465G>C	c.(463-465)CAG>CAC	p.Q155H	ZNF761_uc010ydy.1_Missense_Mutation_p.Q101H|ZNF761_uc002qbt.1_Missense_Mutation_p.Q101H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATATTTCAGACCGAAGAGA	0.388		NaN											0	0	0	1	0	79	210				
CACNG7	59284	broad.mit.edu	37	19	54444867	54444867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54444867G>C	uc002qcr.1	+	4	583	c.568G>C	c.(568-570)GAG>CAG	p.E190Q	CACNG7_uc010era.1_Missense_Mutation_p.E190Q	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	190	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTACTCAAAGAGGTGACGTC	0.443		NaN											0	0	0	1	0	13	182				
TTYH1	57348	broad.mit.edu	37	19	54937898	54937898	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54937898C>G	uc002qfq.2	+	5	779	c.687C>G	c.(685-687)CTC>CTG	p.L229L	TTYH1_uc010yey.1_Silent_p.L278L|TTYH1_uc002qfr.2_Silent_p.L229L|TTYH1_uc002qft.2_Silent_p.L229L|TTYH1_uc002qfu.1_Silent_p.L141L	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	229	Helical; Name=3; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGGTCTGCCTCTTCACCCTCC	0.647		NaN											0	0	0	1	0	15	102				
NLRP7	199713	broad.mit.edu	37	19	55435133	55435133	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55435133G>T	uc002qih.3	-	10	2994	c.2918C>A	c.(2917-2919)CCT>CAT	p.P973H	NLRP7_uc002qig.3_Missense_Mutation_p.P1002H|NLRP7_uc002qii.3_Missense_Mutation_p.P1030H|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.P1058H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	973							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ACAGCACGGAGGTGCCGTTGC	0.463		NaN											1	0	2.24893e-16	1	2.48066e-16	42	82				
RDH13	112724	broad.mit.edu	37	19	55556446	55556446	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55556446C>G	uc002qio.3	-	7	1177	c.992G>C	c.(991-993)AGA>ACA	p.R331T	RDH13_uc002qip.2_Missense_Mutation_p.R260T|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	331							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CAGAGGTTATCTGGGGAGGGG	0.647		NaN											0	0	0	1	0	15	53				
ZNF787	126208	broad.mit.edu	37	19	56600188	56600188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:56600188C>G	uc010eth.1	-	3	472	c.353G>C	c.(352-354)GGC>GCC	p.G118A		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGGCTTCTCGCCCGTGTGGAT	0.682		NaN											0	0	0	1	0	10	12				
ZNF543	125919	broad.mit.edu	37	19	57835137	57835137	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:57835137G>C	uc002qoi.1	+	2	451	c.106G>C	c.(106-108)GAG>CAG	p.E36Q		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTGTATCAGGAGGTGATGCT	0.527		NaN											0	0	0	1	0	26	66				
ZNF550	162972	broad.mit.edu	37	19	58058594	58058594	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58058594C>T	uc002qpe.1	-	2	895	c.895G>A	c.(895-897)GAG>AAG	p.E299K	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCTTCTCTCCAGTGTGG	0.478		NaN											0	0	0	1	0	12	44				
ZNF544	27300	broad.mit.edu	37	19	58772414	58772414	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772414G>C	uc010euo.2	+	7	916	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E120Q|ZNF544_uc010yhy.1_Missense_Mutation_p.E120Q|ZNF544_uc002qrt.3_Missense_Mutation_p.E6Q|ZNF544_uc002qru.3_Missense_Mutation_p.E6Q|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACTCACCTCAGAGAGACTGTT	0.458		NaN											0	0	0	1	0	28	39				
ZNF544	27300	broad.mit.edu	37	19	58772614	58772614	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772614G>C	uc010euo.2	+	7	1116	c.642G>C	c.(640-642)GAG>GAC	p.E214D	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E186D|ZNF544_uc010yhy.1_Missense_Mutation_p.E186D|ZNF544_uc002qrt.3_Missense_Mutation_p.E72D|ZNF544_uc002qru.3_Missense_Mutation_p.E72D|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGCACTGTGAGAGTCATCAGT	0.378		NaN											0	0	0	1	0	22	51				
KIDINS220	57498	broad.mit.edu	37	2	8933973	8933973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:8933973G>A	uc002qzc.2	-	12	1425	c.1243C>T	c.(1243-1245)CAG>TAG	p.Q415*	KIDINS220_uc010yiv.1_Nonsense_Mutation_p.Q181*|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.Q373*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.Q416*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	415	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACTCTTCTGATGGCTACAG	0.358		NaN											0	0	0	1	0	7	70				
NCOA1	8648	broad.mit.edu	37	2	24952432	24952432	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24952432C>G	uc002rfk.2	+	15	3207	c.2949C>G	c.(2947-2949)ATC>ATG	p.I983M	NCOA1_uc010eye.2_Missense_Mutation_p.I983M|NCOA1_uc002rfi.2_Missense_Mutation_p.I832M|NCOA1_uc002rfj.2_Missense_Mutation_p.I983M|NCOA1_uc002rfl.2_Missense_Mutation_p.I983M	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	983	Interaction with CREBBP.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTTGATCATGGAAGAAA	0.428		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	1	0	29	154				
NCOA1	8648	broad.mit.edu	37	2	24985619	24985619	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24985619C>G	uc002rfk.2	+	20	4387	c.4129C>G	c.(4129-4131)CTC>GTC	p.L1377V	NCOA1_uc010eye.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfi.2_Missense_Mutation_p.L1226V|NCOA1_uc002rfj.2_Missense_Mutation_p.L1377V|NCOA1_uc002rfl.2_Missense_Mutation_p.L1377V|NCOA1_uc010eyf.2_Intron	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1377									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGACCTTCTCAAAACAGA	0.373		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	1	0	51	261				
GPR113	165082	broad.mit.edu	37	2	26532908	26532908	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:26532908C>G	uc002rhe.3	-	13	3144	c.3144G>C	c.(3142-3144)GTG>GTC	p.V1048V	GPR113_uc010yky.1_Intron|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Intron|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Intron	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	1048	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCAACTCACCAGGGAGA	0.572		NaN											0	0	0	1	0	14	76				
C2orf53	339779	broad.mit.edu	37	2	27360495	27360495	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27360495G>T	uc002rjb.2	-	3	1283	c.703C>A	c.(703-705)CAC>AAC	p.H235N	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	235											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCACAGGTGCTGCAAAAGC	0.687		NaN											1	0	1.61879e-10	1	1.73479e-10	12	48				
GTF3C2	2976	broad.mit.edu	37	2	27559164	27559164	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27559164G>C	uc002rjv.1	-	9	1619	c.1256C>G	c.(1255-1257)TCC>TGC	p.S419C	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.S430C|GTF3C2_uc002rjw.1_Missense_Mutation_p.S419C|GTF3C2_uc010eyz.1_Missense_Mutation_p.S419C|uc002rjy.1_RNA	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	419						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGGGCTGGAGAAAAGAGC	0.617		NaN											0	0	0	1	0	33	133				
ZNF513	130557	broad.mit.edu	37	2	27603017	27603017	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27603017C>G	uc002rkk.2	-	2	354	c.154G>C	c.(154-156)GAG>CAG	p.E52Q	ZNF513_uc002rkj.2_5'UTR	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	52	Poly-Glu.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCTCCTCTTCCTCTTCC	0.562		NaN											0	0	0	1	0	17	263				
C2orf16	84226	broad.mit.edu	37	2	27804354	27804354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27804354C>T	uc002rkz.3	+	1	4966	c.4915C>T	c.(4915-4917)CGC>TGC	p.R1639C	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1639	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCGGTCCCTC	0.577		NaN											0	0	0	1	0	50	297				
SLC4A1AP	22950	broad.mit.edu	37	2	27886635	27886635	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27886635C>A	uc002rlk.3	+	1	298	c.16C>A	c.(16-18)CGC>AGC	p.R6S	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	6						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					AGCACCACTTCGCAACGCTCC	0.517		NaN											1	0	2.2871e-25	1	2.57583e-25	37	164				
BRE	9577	broad.mit.edu	37	2	28248194	28248194	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28248194G>A	uc002rlr.2	+	6	720	c.402G>A	c.(400-402)GAG>GAA	p.E134E	BRE_uc002rlp.1_Silent_p.E134E|BRE_uc002rlq.2_Silent_p.E134E|BRE_uc002rls.2_Silent_p.E134E|BRE_uc002rlt.2_Silent_p.E134E|BRE_uc002rlu.2_Silent_p.E134E|BRE_uc002rlv.2_5'UTR	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A	134	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GCCTCCGGGAGAGCTCCCGCC	0.453		NaN											0	0	0	1	0	90	42				
PLB1	151056	broad.mit.edu	37	2	28761192	28761192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28761192C>G	uc002rmb.1	+	10	562	c.562C>G	c.(562-564)CTT>GTT	p.L188V	PLB1_uc010ezj.1_Missense_Mutation_p.L199V	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	188	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACAGAATGGGCTTGCGGCGGG	0.662		NaN											0	0	0	1	0	5	35				
RASGRP3	25780	broad.mit.edu	37	2	33768679	33768679	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:33768679T>A	uc002rox.2	+	14	2006	c.1379T>A	c.(1378-1380)GTT>GAT	p.V460D	RASGRP3_uc010ync.1_Missense_Mutation_p.V460D|RASGRP3_uc002roy.2_Missense_Mutation_p.V459D	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	460	EF-hand 2.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					TCCTTCTGTGTTCTGGACAAA	0.338		NaN											0	0	0	1	0	5	19				
CRIM1	51232	broad.mit.edu	37	2	36583615	36583615	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:36583615C>T	uc002rpd.2	+	1	219	c.180C>T	c.(178-180)TGC>TGT	p.C60C		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	60	IGFBP N-terminal.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGGCGTCTGCGGCTGCTGCT	0.697		NaN											0	0	0	1	0	5	44				
C2orf56	55471	broad.mit.edu	37	2	37473327	37473327	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37473327G>C	uc002rqa.3	+	8	1000	c.925G>C	c.(925-927)GAT>CAT	p.D309H	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.D211H|C2orf56_uc010ynk.1_Missense_Mutation_p.D238H|C2orf56_uc010ynl.1_Missense_Mutation_p.D282H|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	309					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				AACAAAGACAGATACCTTCAG	0.403		NaN											0	0	0	1	0	15	92				
C2orf56	55471	broad.mit.edu	37	2	37474653	37474653	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37474653C>G	uc002rqa.3	+	9	1066	c.991C>G	c.(991-993)CTA>GTA	p.L331V	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.L233V|C2orf56_uc010ynk.1_Missense_Mutation_p.L260V|C2orf56_uc010ynl.1_Missense_Mutation_p.L304V|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	331					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				AACAGCAGATCTAACAGCTGA	0.398		NaN											0	0	0	1	0	11	175				
LRPPRC	10128	broad.mit.edu	37	2	44161983	44161983	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:44161983C>T	uc002rtr.2	-	24	2597	c.2539G>A	c.(2539-2541)GAC>AAC	p.D847N	LRPPRC_uc010yob.1_Missense_Mutation_p.D747N	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	847	PPR 13.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATAGCAGTCAATGGCGACC	0.363		NaN											0	0	0	1	0	10	77				
EPAS1	2034	broad.mit.edu	37	2	46583940	46583940	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:46583940C>G	uc002ruv.2	+	4	935	c.447C>G	c.(445-447)CTC>CTG	p.L149L		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	149	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCTGAGTCTCAAAAATGGTA	0.473		NaN											0	0	0	1	0	27	46				
SPTBN1	6711	broad.mit.edu	37	2	54883057	54883057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:54883057G>T	uc002rxu.2	+	29	6217	c.5968G>T	c.(5968-5970)GAA>TAA	p.E1990*	SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E1977*|SPTBN1_uc002rxy.2_Nonsense_Mutation_p.E135*|SPTBN1_uc010you.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1990	Spectrin 17.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ACAGATCAAGGAAAAATTACT	0.393		NaN											1	0	0.00136819	1	0.00138729	13	31				
CCDC88A	55704	broad.mit.edu	37	2	55559821	55559821	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:55559821C>A	uc002ryv.2	-	16	3578	c.2736G>T	c.(2734-2736)GTG>GTT	p.V912V	CCDC88A_uc010yoz.1_Silent_p.V912V|CCDC88A_uc010ypa.1_Silent_p.V912V|CCDC88A_uc002ryu.2_Silent_p.V195V|CCDC88A_uc002ryw.2_Silent_p.V195V	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	912	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						ACTTTTCACTCACCAAATCCT	0.353		NaN											1	0	3.07112e-06	1	3.19359e-06	10	80				
USP34	9736	broad.mit.edu	37	2	61433904	61433904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:61433904G>C	uc002sbe.2	-	71	9059	c.9037C>G	c.(9037-9039)CAG>GAG	p.Q3013E	USP34_uc002sbd.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3013					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CCTTTTCTCTGAAGATAAGGG	0.378		NaN											0	0	0	1	0	9	48				
C2orf86	51057	broad.mit.edu	37	2	63631244	63631244	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:63631244G>A	uc002sch.2	-	10	1820	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.I299I|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.I266I|C2orf86_uc002sci.1_Silent_p.I434I|C2orf86_uc010fcr.1_Silent_p.I348I	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	458					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						GGAGATCATAGATATCACTAC	0.393		NaN											0	0	0	1	0	113	55				
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:64112904G>C	uc002scm.2	+	6	1063	c.757G>C	c.(757-759)GAT>CAT	p.D253H	UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	253		Magnesium (By similarity).			glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GTCTAACATAGATAATCTGGG	0.388		NaN											0	0	0	1	0	31	172				
ATP6V1B1	525	broad.mit.edu	37	2	71189921	71189921	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71189921T>C	uc002shj.2	+	9	887	c.800T>C	c.(799-801)ATC>ACC	p.I267T	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.I267T|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.I225T	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	267					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GAGCGGATCATCACCCCGCGC	0.587		NaN											0	0	0	1	0	9	116				
DYSF	8291	broad.mit.edu	37	2	71791217	71791217	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71791217C>T	uc002sie.2	+	24	2761	c.2385C>T	c.(2383-2385)ATC>ATT	p.I795I	DYSF_uc010feg.2_Silent_p.I826I|DYSF_uc010feh.2_Silent_p.I781I|DYSF_uc002sig.3_Silent_p.I781I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I795I|DYSF_uc010fef.2_Silent_p.I812I|DYSF_uc010fei.2_Silent_p.I812I|DYSF_uc010fek.2_Silent_p.I813I|DYSF_uc010fej.2_Silent_p.I782I|DYSF_uc010fel.2_Silent_p.I782I|DYSF_uc010feo.2_Silent_p.I827I|DYSF_uc010fem.2_Silent_p.I796I|DYSF_uc010fen.2_Silent_p.I813I|DYSF_uc002sif.2_Silent_p.I796I	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	795	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						ACATCGTCATCTGGATGCTGC	0.642		NaN											0	0	0	1	0	28	118				
ALMS1	7840	broad.mit.edu	37	2	73675948	73675948	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73675948C>T	uc002sje.1	+	10	2408	c.2297C>T	c.(2296-2298)TCA>TTA	p.S766L	ALMS1_uc002sjf.1_Missense_Mutation_p.S722L|ALMS1_uc002sjg.2_Missense_Mutation_p.S152L|ALMS1_uc002sjh.1_Missense_Mutation_p.S152L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	764	5.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGTTCTTACTCACAAAGAGAA	0.458		NaN											0	0	0	1	0	134	215				
ALMS1	7840	broad.mit.edu	37	2	73676289	73676289	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73676289C>T	uc002sje.1	+	10	2749	c.2638C>T	c.(2638-2640)CAT>TAT	p.H880Y	ALMS1_uc002sjf.1_Missense_Mutation_p.H836Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H266Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H266Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	878	8.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACCCAATAGTCATCTAACTGA	0.478		NaN											0	0	0	1	0	54	98				
ALMS1	7840	broad.mit.edu	37	2	73677373	73677373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677373C>G	uc002sje.1	+	10	3833	c.3722C>G	c.(3721-3723)TCA>TGA	p.S1241*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.S1197*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.S627*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.S627*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1239	15.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GCTTCTTACTCACACACAGAG	0.473		NaN											0	0	0	1	0	70	129				
ALMS1	7840	broad.mit.edu	37	2	73677410	73677410	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677410C>T	uc002sje.1	+	10	3870	c.3759C>T	c.(3757-3759)GTC>GTT	p.V1253V	ALMS1_uc002sjf.1_Silent_p.V1209V|ALMS1_uc002sjg.2_Silent_p.V639V|ALMS1_uc002sjh.1_Silent_p.V639V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1251	16.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACCAACAGGTCTTGCCAGATA	0.483		NaN											0	0	0	1	0	72	114				
ALMS1	7840	broad.mit.edu	37	2	73677968	73677968	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677968C>G	uc002sje.1	+	10	4428	c.4317C>G	c.(4315-4317)TTC>TTG	p.F1439L	ALMS1_uc002sjf.1_Missense_Mutation_p.F1395L|ALMS1_uc002sjg.2_Missense_Mutation_p.F825L|ALMS1_uc002sjh.1_Missense_Mutation_p.F825L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1437	19.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CTGGTAGTTTCTACCAACAGG	0.488		NaN											0	0	0	1	0	107	180				
ALMS1	7840	broad.mit.edu	37	2	73678719	73678719	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678719C>G	uc002sje.1	+	10	5179	c.5068C>G	c.(5068-5070)CTG>GTG	p.L1690V	ALMS1_uc002sjf.1_Missense_Mutation_p.L1646V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1076V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1076V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1688	25.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TGAAGAAGCTCTGAAAGTTCC	0.438		NaN											0	0	0	1	0	60	110				
ALMS1	7840	broad.mit.edu	37	2	73678860	73678860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678860C>G	uc002sje.1	+	10	5320	c.5209C>G	c.(5209-5211)CTG>GTG	p.L1737V	ALMS1_uc002sjf.1_Missense_Mutation_p.L1693V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1123V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1123V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1735	34 X 47 AA approximate tandem repeat.|26.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TCAAGAAGCTCTGAAAGTTTC	0.423		NaN											0	0	0	1	0	75	120				
LOXL3	84695	broad.mit.edu	37	2	74761668	74761668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74761668C>G	uc002smp.1	-	10	1885	c.1813G>C	c.(1813-1815)GAG>CAG	p.E605Q	LOXL3_uc002smo.1_Missense_Mutation_p.E244Q|LOXL3_uc010ffm.1_Missense_Mutation_p.E549Q|LOXL3_uc002smq.1_Missense_Mutation_p.E460Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E460Q	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	605	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CCATGGCACTCGTGCCACACC	0.607		NaN											0	0	0	1	0	18	13				
C2orf65	130951	broad.mit.edu	37	2	74787419	74787419	+	Splice_Site	SNP	C	C	G	rs77403431		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74787419C>G	uc002smy.2	-	9	1399	c.1282_splice	c.e9-1	p.S428_splice	C2orf65_uc010ysa.1_Splice_Site_p.S428_splice|C2orf65_uc010ffp.2_Splice_Site_p.S77_splice|C2orf65_uc002smx.2_Splice_Site_p.S184_splice	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951						chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						CCAGCATGCTCTGAGGAAAAG	0.547		NaN											0	0	0	1	0	8	52				
LRRTM1	347730	broad.mit.edu	37	2	80529574	80529574	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:80529574G>T	uc002sok.1	-	2	1641	c.1371C>A	c.(1369-1371)CTC>CTA	p.L457L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	457	Cytoplasmic (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						TGAGCTGCCTGAGGCTGGCTG	0.557		NaN								HNSCC(69;0.2)			1	0	4.36969e-10	1	4.67295e-10	12	80				
POLR1A	25885	broad.mit.edu	37	2	86315961	86315961	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86315961G>T	uc002sqs.2	-	5	952	c.573C>A	c.(571-573)CTC>CTA	p.L191L	POLR1A_uc002sqv.2_Silent_p.L191L	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	191					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGAGAGCAATGAGCTTGCTCT	0.448		NaN											1	0	2.35188e-11	1	2.53913e-11	19	91				
KDM3A	55818	broad.mit.edu	37	2	86718100	86718100	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86718100C>G	uc002sri.3	+	24	3997	c.3670C>G	c.(3670-3672)CAA>GAA	p.Q1224E	KDM3A_uc010ytj.1_Missense_Mutation_p.Q1224E|KDM3A_uc010ytk.1_Missense_Mutation_p.Q1172E	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1224	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						ACGTCTTCATCAAGAGTATGG	0.438		NaN											0	0	0	1	0	62	43				
RNF103	7844	broad.mit.edu	37	2	86832071	86832071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86832071G>C	uc002srn.2	-	4	1922	c.953C>G	c.(952-954)TCA>TGA	p.S318*	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Nonsense_Mutation_p.S179*|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	318					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						GGGTTGTAATGAGCGCAAAAA	0.388		NaN											0	0	0	1	0	21	122				
FER1L5	90342	broad.mit.edu	37	2	97369274	97369274	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97369274G>A	uc010fia.2	+	50	5814	c.5814G>A	c.(5812-5814)ATG>ATA	p.M1938I	FER1L5_uc002sws.3_Missense_Mutation_p.M647I|FER1L5_uc002swt.3_Missense_Mutation_p.M647I|FER1L5_uc010yus.1_Missense_Mutation_p.M646I	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1938						integral to membrane				ovary(1)	1						AGGTGAAGATGAGCCTGGAGA	0.572		NaN											0	0	0	1	0	4	57				
CNNM4	26504	broad.mit.edu	37	2	97427901	97427901	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97427901G>A	uc002swx.2	+	1	1263	c.1165G>A	c.(1165-1167)GAT>AAT	p.D389N		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	389	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						GATCCGCAGCGATGCCATCCT	0.498		NaN											0	0	0	1	0	12	89				
ANKRD36	375248	broad.mit.edu	37	2	97866080	97866080	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97866080G>A	uc010yva.1	+	45	3009	c.2765G>A	c.(2764-2766)CGG>CAG	p.R922Q	ANKRD36_uc002sxo.2_Missense_Mutation_p.R338Q|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	922											0						GTGTCTTCTCGGAAAAAACCA	0.338		NaN											0	0	0	1	0	13	85				
RANBP2	5903	broad.mit.edu	37	2	109388219	109388219	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:109388219C>T	uc002tem.3	+	21	8038	c.7912C>T	c.(7912-7914)CTA>TTA	p.L2638L		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2638	Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGTATATGAACTAACTCCAAC	0.373		NaN											0	0	0	1	0	32	191				
RABL2A	11159	broad.mit.edu	37	2	114399013	114399013	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:114399013A>G	uc002tkn.3	+	7	704	c.490A>G	c.(490-492)ACC>GCC	p.T164A	RABL2A_uc010flb.2_Missense_Mutation_p.T164A|RABL2A_uc002tkl.3_Missense_Mutation_p.T83A|RABL2A_uc002tkm.3_Missense_Mutation_p.T101A|RABL2A_uc002tks.3_Missense_Mutation_p.T165A|RABL2A_uc002tkr.2_Missense_Mutation_p.T165A|RABL2A_uc002tkp.3_Missense_Mutation_p.T165A	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	164					small GTPase mediated signal transduction		GTP binding|GTPase activity			skin(1)	1						TGCTGATGGTACCAATGTTGT	0.498		NaN											0	0	0	1	0	22	71				
CNTNAP5	129684	broad.mit.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:125405445G>A	uc002tno.2	+	13	2348	c.1984G>A	c.(1984-1986)GAA>AAA	p.E662K	CNTNAP5_uc010flu.2_Missense_Mutation_p.E663K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	662	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCAGCATGGAACAGCTGGA	0.627		NaN											0	0	0	1	0	4	11				
ERCC3	2071	broad.mit.edu	37	2	128016992	128016992	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128016992T>C	uc002toh.1	-	14	2192	c.2097A>G	c.(2095-2097)GAA>GAG	p.E699E	ERCC3_uc002toe.1_Silent_p.E454E|ERCC3_uc002tof.1_Silent_p.E635E|ERCC3_uc002tog.1_Silent_p.E635E	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	699	Asp/Glu-rich (acidic).|Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGCCAAGTCTTCCTCCTCCA	0.572		NaN	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	39	66				
MYO7B	4648	broad.mit.edu	37	2	128367562	128367562	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128367562C>G	uc002top.2	+	24	3216	c.3163C>G	c.(3163-3165)CAG>GAG	p.Q1055E		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1055	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACGGTGCCCAGGTTCCACA	0.657		NaN											0	0	0	1	0	5	11				
NCKAP5	344148	broad.mit.edu	37	2	133542301	133542301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:133542301C>A	uc002ttp.2	-	14	2457	c.2083G>T	c.(2083-2085)GAG>TAG	p.E695*	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	695							protein binding				0						ATGGAAATCTCATTTCTGGTA	0.458		NaN											1	0	1.17739e-12	1	1.28065e-12	25	111				
MCM6	4175	broad.mit.edu	37	2	136603845	136603845	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:136603845G>C	uc002tuw.2	-	15	2247	c.2171C>G	c.(2170-2172)TCT>TGT	p.S724C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	724					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AATAAGGTTAGAGATTCGGCA	0.483		NaN											0	0	0	1	0	55	38				
EPC2	26122	broad.mit.edu	37	2	149528807	149528807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:149528807G>A	uc010zbt.1	+	10	1598	c.1571G>A	c.(1570-1572)CGA>CAA	p.R524Q		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	524					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGATCATGTCGACTACAGTGT	0.368		NaN											0	0	0	1	0	72	41				
NEB	4703	broad.mit.edu	37	2	152477516	152477516	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152477516C>G	uc010fnx.2	-	68	9939	c.9748G>C	c.(9748-9750)GAA>CAA	p.E3250Q		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3250	Nebulin 88.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGCTTCTTCCATGGCC	0.438		NaN											0	0	0	1	0	11	12				
CACNB4	785	broad.mit.edu	37	2	152728976	152728976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152728976C>G	uc002tya.2	-	6	621	c.553G>C	c.(553-555)GGA>CGA	p.G185R	CACNB4_uc002txy.2_Missense_Mutation_p.G151R|CACNB4_uc002txz.2_Missense_Mutation_p.G167R|CACNB4_uc010fnz.2_Missense_Mutation_p.G185R|CACNB4_uc002tyb.2_Missense_Mutation_p.G151R	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	185					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ACCATTTCTCCAAGACTTGAA	0.358		NaN											0	0	0	1	0	13	102				
GPD2	2820	broad.mit.edu	37	2	157407191	157407191	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:157407191G>A	uc002tzf.3	+	8	1264	c.904G>A	c.(904-906)GAT>AAT	p.D302N	GPD2_uc010zch.1_Missense_Mutation_p.D75N|GPD2_uc002tzd.3_Missense_Mutation_p.D302N|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	302					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						CAAAATGGATGATAAAGACGC	0.473		NaN											0	0	0	1	0	51	109				
TANC1	85461	broad.mit.edu	37	2	160027154	160027154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160027154G>T	uc002uag.2	+	10	1463	c.1189G>T	c.(1189-1191)GAA>TAA	p.E397*	TANC1_uc010fol.1_Nonsense_Mutation_p.E291*|TANC1_uc010zcm.1_Nonsense_Mutation_p.E389*|TANC1_uc010fom.1_Nonsense_Mutation_p.E203*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	397						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CCAGATAGAAGAAAACTTGAG	0.468		NaN											1	0	7.21436e-19	1	8.04496e-19	21	119				
PLA2R1	22925	broad.mit.edu	37	2	160801453	160801453	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160801453G>C	uc002ube.1	-	28	4315	c.4108C>G	c.(4108-4110)CAA>GAA	p.Q1370E	PLA2R1_uc010zcp.1_Missense_Mutation_p.Q1368E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1370	Extracellular (Potential).|C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TTTTTTTCTTGACACGGGGAT	0.423		NaN											0	0	0	1	0	33	297				
SLC4A10	57282	broad.mit.edu	37	2	162830786	162830786	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:162830786G>C	uc002ubx.3	+	24	3371	c.3187G>C	c.(3187-3189)GAT>CAT	p.D1063H	SLC4A10_uc002uby.3_Missense_Mutation_p.D1033H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1044H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1063	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						AGCTATGGAAGATGAGGGCAC	0.323		NaN											0	0	0	1	0	3	27				
SCN7A	6332	broad.mit.edu	37	2	167313506	167313506	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:167313506C>A	uc002udu.1	-	10	1291	c.1164G>T	c.(1162-1164)TTG>TTT	p.L388F	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	388	Helical; Name=S6 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGCCTAAGAACAAACTTGCCA	0.348		NaN											1	0	0.115264	1	0.115264	3	21				
LRP2	4036	broad.mit.edu	37	2	170050365	170050365	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:170050365C>T	uc002ues.2	-	47	8949	c.8736G>A	c.(8734-8736)AAG>AAA	p.K2912K		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2912	LDL-receptor class A 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACCATCACACTTGAACTCAT	0.463		NaN											0	0	0	1	0	29	134				
RAPGEF4	11069	broad.mit.edu	37	2	173891907	173891907	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:173891907G>T	uc002uhv.3	+	25	2665	c.2478G>T	c.(2476-2478)TGG>TGT	p.W826C	RAPGEF4_uc002uhw.3_Missense_Mutation_p.W682C	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	826	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCAGTTTTGGGTCGTCACTG	0.373		NaN											1	0	1.20869e-33	1	1.36582e-33	59	7				
PDE11A	50940	broad.mit.edu	37	2	178705092	178705092	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:178705092C>T	uc002ulq.2	-	6	1704	c.1386G>A	c.(1384-1386)GAG>GAA	p.E462E	PDE11A_uc002ulp.2_Silent_p.E18E|PDE11A_uc002ulr.2_Silent_p.E212E|PDE11A_uc002uls.1_Silent_p.E104E|PDE11A_uc002ult.1_Silent_p.E212E|PDE11A_uc002ulu.1_Silent_p.E104E	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	462	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGATGATTTCTCCATGCTTT	0.423		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	1	0	69	1				
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179360322G>C	uc002umn.2	+	5	948	c.550G>C	c.(550-552)GAG>CAG	p.E184Q		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	184						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428		NaN											0	0	0	1	0	22	146				
TTN	7273	broad.mit.edu	37	2	179413724	179413724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179413724C>T	uc010zfg.1	-	288	85149	c.84925G>A	c.(84925-84927)GTG>ATG	p.V28309M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V22004M|TTN_uc010zfi.1_Missense_Mutation_p.V21937M|TTN_uc010zfj.1_Missense_Mutation_p.V21812M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29236							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTTTTCACACATGCCTCT	0.423		NaN											0	0	0	1	0	49	41				
TTN	7273	broad.mit.edu	37	2	179435376	179435376	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179435376C>G	uc010zfg.1	-	275	68003	c.67779G>C	c.(67777-67779)AAG>AAC	p.K22593N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16288N|TTN_uc010zfi.1_Missense_Mutation_p.K16221N|TTN_uc010zfj.1_Missense_Mutation_p.K16096N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23520							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCGGTGCTCTTTATTTCTA	0.413		NaN											0	0	0	1	0	17	80				
TTN	7273	broad.mit.edu	37	2	179514605	179514605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179514605C>G	uc010zfg.1	-	165	32756	c.32532G>C	c.(32530-32532)AAG>AAC	p.K10844N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11771							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATGATCTTCTTGGGCTCTT	0.338		NaN											0	0	0	1	0	41	78				
NCKAP1	10787	broad.mit.edu	37	2	183817172	183817172	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:183817172G>T	uc002upc.2	-	23	2964	c.2562C>A	c.(2560-2562)AGC>AGA	p.S854R	NCKAP1_uc002upb.2_Missense_Mutation_p.S860R	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	854					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCCACATAAGGCTTTCACTTA	0.313		NaN											1	0	8.00594e-06	1	8.29128e-06	19	63				
SF3B1	23451	broad.mit.edu	37	2	198257718	198257718	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:198257718C>G	uc002uue.2	-	24	3782	c.3734G>C	c.(3733-3735)AGA>ACA	p.R1245T		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1245					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGCAACATTCTACATGGTCC	0.294		NaN											0	0	0	1	0	5	32				
KCTD18	130535	broad.mit.edu	37	2	201369515	201369515	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:201369515C>T	uc002uvs.2	-	3	845	c.328G>A	c.(328-330)GAA>AAA	p.E110K	KCTD18_uc002uvt.2_Missense_Mutation_p.E110K|KCTD18_uc002uvu.1_Missense_Mutation_p.E110K	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						GTCTCCATTTCATTGGCCAAA	0.373		NaN											0	0	0	1	0	7	30				
TRAK2	66008	broad.mit.edu	37	2	202251049	202251049	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:202251049T>C	uc002uyb.3	-	14	2301	c.1855A>G	c.(1855-1857)ACT>GCT	p.T619A		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	619				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						ACCTGAAAAGTAATACCCTCC	0.463		NaN											0	0	0	1	0	9	69				
NRP2	8828	broad.mit.edu	37	2	206659622	206659622	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:206659622T>C	uc002vaw.2	+	17	3427	c.2636T>C	c.(2635-2637)CTG>CCG	p.L879P	NRP2_uc002vax.2_Missense_Mutation_p.L874P|NRP2_uc002vay.2_Missense_Mutation_p.L857P	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	879	Helical; (Potential).				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGCGTCCTCCTGGGGGCCACC	0.612		NaN											0	0	0	1	0	25	27				
MDH1B	130752	broad.mit.edu	37	2	207621668	207621668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:207621668C>A	uc002vbs.2	-	4	422	c.367G>T	c.(367-369)GAA>TAA	p.E123*	MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Nonsense_Mutation_p.E123*|MDH1B_uc010fuj.2_Nonsense_Mutation_p.E25*|MDH1B_uc002vbt.2_RNA	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	123					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCAGGGCTTCTTCCTCCTGC	0.428		NaN											1	0	2.80697e-09	1	2.97985e-09	10	28				
ERBB4	2066	broad.mit.edu	37	2	212248420	212248420	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:212248420C>G	uc002veg.1	-	28	3945	c.3847G>C	c.(3847-3849)GAA>CAA	p.E1283Q	ERBB4_uc002veh.1_Missense_Mutation_p.E1267Q|ERBB4_uc010zji.1_Missense_Mutation_p.E1273Q|ERBB4_uc010zjj.1_Missense_Mutation_p.E1257Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1283	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGAGGTATTCAGGATTCTCT	0.502		NaN								TSP Lung(8;0.080)			0	0	0	1	0	11	31				
STK36	27148	broad.mit.edu	37	2	219544719	219544719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219544719C>G	uc002viu.2	+	9	1318	c.1052C>G	c.(1051-1053)TCA>TGA	p.S351*	STK36_uc002viv.2_Nonsense_Mutation_p.S351*	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	351					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTCAGGAATCAAGCCTCCTG	0.587		NaN											0	0	0	1	0	21	34				
CCDC108	255101	broad.mit.edu	37	2	219870931	219870931	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219870931G>C	uc002vjl.1	-	31	4818	c.4734C>G	c.(4732-4734)ATC>ATG	p.I1578M		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1578						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGTTCTTGATGGGAGGCA	0.607		NaN											0	0	0	1	0	38	8				
SLC16A14	151473	broad.mit.edu	37	2	230911034	230911034	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:230911034G>C	uc002vqd.1	-	4	1171	c.808C>G	c.(808-810)CAG>GAG	p.Q270E	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.Q270E|SLC16A14_uc002vqf.2_Missense_Mutation_p.Q270E	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	270	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCCCGGCCTGATCGGGGCAC	0.587		NaN											0	0	0	1	0	54	9				
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234072504C>T	uc010zmo.1	+	11	1545	c.1392C>T	c.(1390-1392)ATC>ATT	p.I464I	INPP5D_uc010zmp.1_Silent_p.I463I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	464					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCTGGAGATCCTCAAACACT	0.552		NaN											0	0	0	1	0	31	6				
HJURP	55355	broad.mit.edu	37	2	234749322	234749322	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234749322C>G	uc002vvg.2	-	8	2170	c.2104G>C	c.(2104-2106)GAT>CAT	p.D702H	HJURP_uc010znd.1_Missense_Mutation_p.D641H|HJURP_uc010zne.1_Missense_Mutation_p.D610H	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	702					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCACCCCATCTGAGGCACCC	0.577		NaN											0	0	0	1	0	28	36				
SNED1	25992	broad.mit.edu	37	2	242004846	242004846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:242004846G>A	uc002wah.1	+	21	2845	c.2845G>A	c.(2845-2847)GAC>AAC	p.D949N	SNED1_uc002wai.1_Missense_Mutation_p.D184N|SNED1_uc002waj.1_Missense_Mutation_p.D36N|SNED1_uc002wak.2_Missense_Mutation_p.D36N	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	949	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGTCTCCTCCGACGGCTCCTA	0.647		NaN											0	0	0	1	0	11	20				
C20orf186	149954	broad.mit.edu	37	20	31685467	31685467	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:31685467C>A	uc010zue.1	+	11	1458	c.1443C>A	c.(1441-1443)ATC>ATA	p.I481I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	481						cytoplasm|extracellular region	lipid binding				0						TCATCAGGATCCAGGTGCTGA	0.597		NaN											1	0	1.39806e-14	1	1.53379e-14	29	256				
C20orf144	128864	broad.mit.edu	37	20	32251484	32251484	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251484G>T	uc002wzs.1	+	2	305	c.273G>T	c.(271-273)CCG>CCT	p.P91P	NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	hypothetical protein LOC128864	91											0						AGCGCGAGCCGAGGATGCCGG	0.741		NaN											1	0	0.000157383	1	0.000160863	8	4				
C20orf144	128864	broad.mit.edu	37	20	32251518	32251518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251518G>C	uc002wzs.1	+	2	339	c.307G>C	c.(307-309)GAG>CAG	p.E103Q	NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	hypothetical protein LOC128864	103											0						GCGGCGGCAAGAGGCGCGGCG	0.766		NaN											0	0	0	1	0	2	3				
RALY	22913	broad.mit.edu	37	20	32661429	32661429	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32661429C>G	uc002xab.2	+	4	615	c.317C>G	c.(316-318)TCT>TGT	p.S106C	RALY_uc010zui.1_Missense_Mutation_p.S106C|RALY_uc002xac.2_Missense_Mutation_p.S106C|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S106C	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	106						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						AGAGCAGCATCTGCCATATAC	0.517		NaN											0	0	0	1	0	13	66				
MYH7B	57644	broad.mit.edu	37	20	33588881	33588881	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:33588881G>A	uc002xbi.1	+	39	5613	c.5521G>A	c.(5521-5523)GAG>AAG	p.E1841K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1799	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACGGTGCGCGAGCTCCAGGC	0.637		NaN											0	0	0	1	0	10	53				
CEP250	11190	broad.mit.edu	37	20	34086527	34086527	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34086527G>T	uc002xcm.2	+	28	4430	c.3759G>T	c.(3757-3759)TGG>TGT	p.W1253C	CEP250_uc010zve.1_Missense_Mutation_p.W621C	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1253	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGACCTGTGGAAGACTCAAC	0.532		NaN											1	0	2.22156e-40	1	2.51595e-40	82	22				
C20orf4	25980	broad.mit.edu	37	20	34828499	34828499	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34828499G>C	uc002xfc.1	+	2	802	c.709G>C	c.(709-711)GAG>CAG	p.E237Q	C20orf4_uc002xfd.1_Missense_Mutation_p.E237Q|C20orf4_uc002xfe.1_Missense_Mutation_p.E237Q	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	237											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CTATGCCCTGGAGACTGTGCT	0.577		NaN											0	0	0	1	0	12	46				
TGIF2	60436	broad.mit.edu	37	20	35207317	35207317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:35207317C>A	uc002xfn.2	+	2	313	c.140C>A	c.(139-141)TCA>TAA	p.S47*	C20orf24_uc002xfo.2_Nonsense_Mutation_p.S47*	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	47	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCTACCCCTCAGAGCAGGAG	0.517		NaN											1	0	0.000151284	1	0.000155097	12	83				
CTNNBL1	56259	broad.mit.edu	37	20	36431427	36431427	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:36431427G>A	uc010zvw.1	+	12	1281	c.1190G>A	c.(1189-1191)GGA>GAA	p.G397E	CTNNBL1_uc002xhh.2_Missense_Mutation_p.G210E|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.G145E	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	397					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				AAGAAAGTGGGAACCACTGAG	0.428		NaN											0	0	0	1	0	10	26				
RALGAPB	57148	broad.mit.edu	37	20	37191299	37191299	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37191299G>T	uc002xiw.2	+	24	3913	c.3656G>T	c.(3655-3657)TGG>TTG	p.W1219L	RALGAPB_uc002xix.2_Missense_Mutation_p.W1215L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.W997L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1219	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCTACCAGTTGGTCTATTAAT	0.403		NaN											1	0	2.59497e-14	1	2.84078e-14	42	43				
SLC32A1	140679	broad.mit.edu	37	20	37353648	37353648	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37353648C>T	uc002xjc.2	+	1	544	c.281C>T	c.(280-282)CCG>CTG	p.P94L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	94	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTCCTCTGCCGCCCTCCGGC	0.662		NaN											0	0	0	1	0	13	45				
GTSF1L	149699	broad.mit.edu	37	20	42355269	42355269	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:42355269G>A	uc002xld.2	-	1	374	c.66C>T	c.(64-66)TTC>TTT	p.F22F	GTSF1L_uc002xlc.2_Silent_p.F22F	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like isoform 1	22	CHHC-type.						metal ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGGTACTGGAATCTGCTGA	0.493		NaN											0	0	0	1	0	36	87				
KCNS1	3787	broad.mit.edu	37	20	43723710	43723710	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43723710G>A	uc002xnc.2	-	5	1779	c.1382C>T	c.(1381-1383)TCC>TTC	p.S461F	KCNS1_uc002xnd.2_Missense_Mutation_p.S461F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	461	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GTAGAAGTGGGAGAACTTGTT	0.597		NaN											0	0	0	1	0	10	131				
MATN4	8785	broad.mit.edu	37	20	43933045	43933045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43933045C>T	uc002xnn.2	-	3	653	c.466G>A	c.(466-468)GAG>AAG	p.E156K	MATN4_uc002xno.2_Missense_Mutation_p.E156K|MATN4_uc002xnp.2_Missense_Mutation_p.E156K|MATN4_uc010zwr.1_Missense_Mutation_p.E104K|MATN4_uc002xnr.1_Missense_Mutation_p.E156K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	156	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				GCCGCCACCTCGGCCACGCGG	0.746		NaN											0	0	0	1	0	4	20				
CEBPB	1051	broad.mit.edu	37	20	48807986	48807986	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:48807986A>G	uc002xvi.1	+	1	611	c.416A>G	c.(415-417)TAC>TGC	p.Y139C	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	139					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GAGTACGGCTACGTGAGCCTG	0.577		NaN											0	0	0	1	0	2	0				
LSM14B	149986	broad.mit.edu	37	20	60708371	60708371	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60708371G>C	uc010gjy.1	+	8	1218	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q	LSM14B_uc002ybv.2_Missense_Mutation_p.E312Q|LSM14B_uc010zzz.1_Missense_Mutation_p.E258Q	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	338	TFG box.				multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTGGGCCGAAGAGAGGAAGCT	0.612		NaN											0	0	0	1	0	34	44				
ZBTB46	140685	broad.mit.edu	37	20	62421402	62421402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62421402G>A	uc002ygv.1	-	2	910	c.709C>T	c.(709-711)CAG>TAG	p.Q237*	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCCGTACTGAGACGGTGAA	0.597		NaN											0	0	0	1	0	4	50				
PRPF6	24148	broad.mit.edu	37	20	62654184	62654184	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62654184G>C	uc002yho.2	+	13	1890	c.1722G>C	c.(1720-1722)AAG>AAC	p.K574N	PRPF6_uc002yhp.2_Missense_Mutation_p.K574N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	574	HAT 4.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCAGCAAGAAGAGTGTGTGGC	0.582		NaN											0	0	0	1	0	19	58				
TPTE	7179	broad.mit.edu	37	21	10942732	10942732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:10942732G>C	uc002yip.1	-	13	1077	c.709C>G	c.(709-711)CTA>GTA	p.L237V	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L219V|TPTE_uc002yir.1_Missense_Mutation_p.L199V|TPTE_uc010gkv.1_Missense_Mutation_p.L99V	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGAGGTCTAGGTCAAATCCA	0.323		NaN											0	0	0	1	0	41	289				
RNF160	26046	broad.mit.edu	37	21	30307437	30307437	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30307437G>T	uc002ymr.2	-	27	5020	c.5007C>A	c.(5005-5007)GGC>GGA	p.G1669G		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1623							ligase activity|zinc ion binding				0						TAACCGTCATGCCATTAAATA	0.313		NaN											1	0	4.36969e-10	1	4.67295e-10	13	47				
USP16	10600	broad.mit.edu	37	21	30419060	30419060	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30419060G>C	uc002ymy.2	+	14	1631	c.1429G>C	c.(1429-1431)GAA>CAA	p.E477Q	USP16_uc002ymx.2_Missense_Mutation_p.E476Q|USP16_uc002ymw.2_Missense_Mutation_p.E477Q|USP16_uc011acm.1_Missense_Mutation_p.E462Q|USP16_uc011acn.1_Missense_Mutation_p.E143Q|USP16_uc011aco.1_Missense_Mutation_p.E167Q	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	477					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						TGACCATCCTGAAGACAGTGA	0.318		NaN											0	0	0	1	0	9	51				
C21orf63	59271	broad.mit.edu	37	21	33876247	33876247	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:33876247G>C	uc002ypr.1	+	7	1281	c.871G>C	c.(871-873)GAC>CAC	p.D291H	C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.D288H|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.D196H|C21orf63_uc011adq.1_5'UTR	NM_058187	NP_478067	P58658	CU063_HUMAN	hypothetical protein LOC59271 precursor	291	Extracellular (Potential).					integral to membrane	sugar binding			ovary(2)|pancreas(1)	3						TATAAACTTCGACCCAAGCGG	0.443		NaN											0	0	0	1	0	37	112				
ITSN1	6453	broad.mit.edu	37	21	35147080	35147080	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:35147080G>T	uc002yta.1	+	13	1621	c.1353G>T	c.(1351-1353)CGG>CGT	p.R451R	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.R451R|ITSN1_uc010gmg.2_Silent_p.R414R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.R451R|ITSN1_uc010gmi.2_Silent_p.R414R|ITSN1_uc010gmj.2_Silent_p.R335R|ITSN1_uc002ysy.2_Silent_p.R451R|ITSN1_uc002ysx.2_Silent_p.R414R|ITSN1_uc002ytb.1_Silent_p.R451R|ITSN1_uc002ytc.1_Silent_p.R451R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.R414R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.R451R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.R385R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	451	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						AGTGGGAACGGAATCGAAGGC	0.368		NaN											1	0	1.5739e-10	1	1.68845e-10	17	43				
RIPK4	54101	broad.mit.edu	37	21	43187192	43187192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43187192C>G	uc002yzn.1	-	1	58	c.10G>C	c.(10-12)GAC>CAC	p.D4H		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	4						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						GTCCCGCCGTCGCCCTCCATC	0.736		NaN											0	0	0	1	0	3	6				
UBASH3A	53347	broad.mit.edu	37	21	43833142	43833142	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43833142C>G	uc002zbe.2	+	4	400	c.364C>G	c.(364-366)CAG>GAG	p.Q122E	UBASH3A_uc002zbf.2_Missense_Mutation_p.Q122E|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.Q122E	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	122						cytosol|nucleus				ovary(3)	3						GTGTGAAGACCAGAAGGTGGA	0.512		NaN											0	0	0	1	0	33	141				
RRP1	8568	broad.mit.edu	37	21	45222172	45222172	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45222172G>C	uc002zds.2	+	12	1120	c.1027G>C	c.(1027-1029)GAG>CAG	p.E343Q	RRP1_uc011aez.1_Missense_Mutation_p.E343Q|RRP1_uc010gpk.1_Missense_Mutation_p.E193Q|RRP1_uc010gpl.1_Missense_Mutation_p.E241Q|RRP1_uc010gpm.1_Missense_Mutation_p.E210Q	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	343					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCCTGAAGATGAGATCCCAGA	0.602		NaN											0	0	0	1	0	23	27				
TRAPPC10	7109	broad.mit.edu	37	21	45475622	45475622	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45475622C>G	uc002zea.2	+	5	695	c.526C>G	c.(526-528)CAG>GAG	p.Q176E	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.Q176E	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	176					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TTCTCGAACTCAGGAATCCTG	0.478		NaN											0	0	0	1	0	91	101				
GAB4	128954	broad.mit.edu	37	22	17468986	17468986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:17468986G>A	uc002zlw.2	-	3	658	c.550C>T	c.(550-552)CAG>TAG	p.Q184*	GAB4_uc010gqs.1_Nonsense_Mutation_p.Q167*	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	184										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGAGGTGCTGATGGGAGCAG	0.612		NaN											0	0	0	1	0	21	19				
PRODH	5625	broad.mit.edu	37	22	18918658	18918658	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:18918658C>A	uc010grl.2	-	2	341	c.327G>T	c.(325-327)ATG>ATT	p.M109I	PRODH_uc002zoj.3_5'UTR|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Missense_Mutation_p.M109I	NM_016335	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase 1	109					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)	1					L-Proline(DB00172)	AGGTCATCTTCATGAGCTTGT	0.557		NaN											1	0	5.3912e-06	1	5.58905e-06	17	37				
CCDC157	550631	broad.mit.edu	37	22	30766456	30766456	+	Missense_Mutation	SNP	G	G	C	rs5753102		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:30766456G>C	uc011aku.1	+	5	1222	c.562G>C	c.(562-564)GAG>CAG	p.E188Q	CCDC157_uc011akv.1_Missense_Mutation_p.E188Q	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	188										central_nervous_system(1)	1						CCAAGAGCCAGAGAGCATCCC	0.602		NaN											0	0	0	1	0	35	33				
INPP5J	27124	broad.mit.edu	37	22	31522449	31522449	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:31522449C>A	uc003aju.3	+	3	1451	c.1359C>A	c.(1357-1359)AGC>AGA	p.S453R	INPP5J_uc010gwf.2_Missense_Mutation_p.S453R|INPP5J_uc003ajv.3_Missense_Mutation_p.S86R|INPP5J_uc003ajs.3_Missense_Mutation_p.S86R|INPP5J_uc011alk.1_Missense_Mutation_p.S386R|INPP5J_uc010gwg.2_Missense_Mutation_p.S18R|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.S85R|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	453	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						GTGACGACAGCGACGGCGCAG	0.672		NaN											1	0	1.7881e-09	1	1.90818e-09	30	60				
PISD	23761	broad.mit.edu	37	22	32016599	32016599	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32016599G>T	uc003alm.3	-	7	952	c.945C>A	c.(943-945)TTC>TTA	p.F315L	PISD_uc003alk.2_Missense_Mutation_p.F281L|PISD_uc003all.2_Intron|PISD_uc011alr.1_Missense_Mutation_p.F280L|PISD_uc003aln.3_Intron	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	315					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	TCAGTGAGAAGAAGCCATGTT	0.587		NaN											1	0	3.03607e-14	1	3.32009e-14	13	24				
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:43985982C>T	uc003bdy.1	-	24	3219	c.3004G>A	c.(3004-3006)GAA>AAA	p.E1002K	EFCAB6_uc003bdz.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E850K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E228K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1002					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408		NaN											0	0	0	1	0	31	43				
LRRN1	57633	broad.mit.edu	37	3	3887605	3887605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:3887605C>G	uc003bpt.3	+	2	2041	c.1280C>G	c.(1279-1281)TCT>TGT	p.S427C	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	427	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAATGATATCTCACGACAGC	0.502		NaN											0	0	0	1	0	53	66				
SUMF1	285362	broad.mit.edu	37	3	4508701	4508701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4508701G>C	uc003bpz.1	-	1	254	c.229C>G	c.(229-231)CCG>GCG	p.P77A	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.P77A|SUMF1_uc010hby.1_Missense_Mutation_p.P77A|SUMF1_uc011ast.1_Missense_Mutation_p.P77A	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	77						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ACGGGGCCCGGAGCGTTAGCC	0.706		NaN											0	0	0	1	0	3	9				
ITPR1	3708	broad.mit.edu	37	3	4842241	4842241	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4842241C>T	uc003bqa.2	+	51	7268	c.6920C>T	c.(6919-6921)TCA>TTA	p.S2307L	ITPR1_uc010hca.1_Missense_Mutation_p.S2292L|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S1277L|ITPR1_uc010hcc.1_Missense_Mutation_p.S75L|ITPR1_uc011asv.1_Missense_Mutation_p.S31L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2355	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGATATTTTCAGTCGGGTTA	0.483		NaN											0	0	0	1	0	17	61				
ITPR1	3708	broad.mit.edu	37	3	4856165	4856165	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4856165G>T	uc003bqa.2	+	55	7824	c.7476G>T	c.(7474-7476)CTG>CTT	p.L2492L	ITPR1_uc010hca.1_Silent_p.L2477L|ITPR1_uc011asu.1_Silent_p.L503L|ITPR1_uc003bqc.2_Silent_p.L1462L|ITPR1_uc010hcc.1_Silent_p.L260L|ITPR1_uc011asv.1_Silent_p.L216L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2540	Lumenal (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGACGCTGCTGATGTGCATTG	0.537		NaN											1	0	1.30897e-18	1	1.45808e-18	31	71				
EDEM1	9695	broad.mit.edu	37	3	5241290	5241290	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:5241290C>T	uc003bqi.2	+	3	728	c.596C>T	c.(595-597)TCA>TTA	p.S199L	EDEM1_uc011asz.1_Intron|EDEM1_uc003bqh.2_Missense_Mutation_p.S199L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	199	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATGGGAAATTCATCCGAGTTC	0.408		NaN											0	0	0	1	0	28	28				
MKRN2	23609	broad.mit.edu	37	3	12611602	12611602	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:12611602G>C	uc003bxd.2	+	3	244	c.188G>C	c.(187-189)GGA>GCA	p.G63A	MKRN2_uc003bxe.2_Missense_Mutation_p.G61A|MKRN2_uc011aus.1_Missense_Mutation_p.G20A	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	63						intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						GCTGCAGCTGGAGGTGCTGTG	0.547		NaN											0	0	0	1	0	23	73				
TRIM71	131405	broad.mit.edu	37	3	32932040	32932040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:32932040G>A	uc003cff.2	+	4	1407	c.1344G>A	c.(1342-1344)CGG>CGA	p.R448R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	448					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						AGACCGTGCGGAGCCTCCTGC	0.617		NaN											0	0	0	1	0	27	43				
GLB1	2720	broad.mit.edu	37	3	33109743	33109743	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33109743G>C	uc003cfi.1	-	4	553	c.436C>G	c.(436-438)CTT>GTT	p.L146V	GLB1_uc003cfh.1_Missense_Mutation_p.L116V|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.L194V	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	146					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				GAGCGGAGAAGAATAGACTCT	0.383		NaN											0	0	0	1	0	13	39				
CLASP2	23122	broad.mit.edu	37	3	33614798	33614798	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33614798C>G	uc003cfu.2	-	25	2857	c.2503G>C	c.(2503-2505)GAT>CAT	p.D835H	CLASP2_uc003cfs.2_Missense_Mutation_p.D43H|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D436H	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	844										ovary(3)|central_nervous_system(1)	4						TTGGCGTCATCATCTGAATGC	0.393		NaN											0	0	0	1	0	32	54				
MLH1	4292	broad.mit.edu	37	3	37035095	37035095	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37035095C>T	uc003cgl.2	+	1	117	c.57C>T	c.(55-57)ATC>ATT	p.I19I	MLH1_uc011aye.1_5'Flank|EPM2AIP1_uc003cgk.2_5'Flank|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Silent_p.I19I|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	19			I -> F (in HNPCC2; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						TGAACCGCATCGCGGCGGGGG	0.567		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	1	0	15	34				
GOLGA4	2803	broad.mit.edu	37	3	37368570	37368570	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37368570G>A	uc003cgv.2	+	14	5497	c.5193G>A	c.(5191-5193)CAG>CAA	p.Q1731Q	GOLGA4_uc010hgr.1_Silent_p.Q1292Q|GOLGA4_uc003cgw.2_Silent_p.Q1753Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Q1612Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1731	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GCTGTGTGCAGAAGACATATG	0.373		NaN											0	0	0	1	0	39	104				
OXSR1	9943	broad.mit.edu	37	3	38292922	38292922	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:38292922C>G	uc003chy.2	+	16	1746	c.1404C>G	c.(1402-1404)CTC>CTG	p.L468L	OXSR1_uc010hhb.2_Silent_p.L402L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	468					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCAGGAACTCATTTCTGCTG	0.468		NaN											0	0	0	1	0	48	138				
TTC21A	199223	broad.mit.edu	37	3	39166841	39166841	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39166841G>T	uc003cjc.2	+	11	1411	c.1234G>T	c.(1234-1236)GCC>TCC	p.A412S	TTC21A_uc003cje.2_Missense_Mutation_p.A412S|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.A363S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	412							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCCTCCAAGCCCTCCTGAT	0.562		NaN									OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.75199e-13	1	1.90972e-13	29	28				
CX3CR1	1524	broad.mit.edu	37	3	39307166	39307166	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39307166C>T	uc003cjl.2	-	2	927	c.835G>A	c.(835-837)GAG>AAG	p.E279K		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	279	Helical; Name=7; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCAACCGTCTCAGTCACACTG	0.468		NaN											0	0	0	1	0	39	74				
CCR8	1237	broad.mit.edu	37	3	39374656	39374656	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39374656G>A	uc010hhr.2	+	2	972	c.834G>A	c.(832-834)CTG>CTA	p.L278L	CCR8_uc003cjm.2_Silent_p.L195L	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	278	Extracellular (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCCAACAGCTGACTTATGCCA	0.433		NaN											0	0	0	1	0	26	30				
NKTR	4820	broad.mit.edu	37	3	42687461	42687461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42687461C>T	uc003clo.2	+	17	4530	c.4383C>T	c.(4381-4383)TAC>TAT	p.Y1461Y	NKTR_uc003clp.2_Silent_p.Y1209Y|NKTR_uc011azp.1_Missense_Mutation_p.T272I|NKTR_uc003cls.2_Silent_p.Y1161Y	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1461					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCAGCAGATACAGTTGAAAAC	0.373		NaN											0	0	0	1	0	5	17				
CCDC13	152206	broad.mit.edu	37	3	42793446	42793446	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42793446C>G	uc003cly.3	-	5	669	c.585G>C	c.(583-585)CAG>CAC	p.Q195H	CCDC13_uc003clz.2_Missense_Mutation_p.Q195H|CCDC13_uc011azq.1_Missense_Mutation_p.Q195H	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	195	Potential.									ovary(1)	1						TGTCTCCCATCTGGGCCCTCG	0.592		NaN											0	0	0	1	0	6	22				
CYP8B1	1582	broad.mit.edu	37	3	42916916	42916916	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42916916C>G	uc003cmh.2	-	1	718	c.393G>C	c.(391-393)CTG>CTC	p.L131L	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.L131L	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	131					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATCCCCCCTCAGATGCTTGG	0.502		NaN											0	0	0	1	0	21	54				
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47098400G>C	uc003cqs.2	-	15	6927	c.6874C>G	c.(6874-6876)CAA>GAA	p.Q2292E	SETD2_uc003cqv.2_Missense_Mutation_p.Q2359E	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	1	0	23	20		Valid		
C3orf75	54859	broad.mit.edu	37	3	47539889	47539889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47539889C>G	uc003crk.2	-	6	678	c.559G>C	c.(559-561)GAT>CAT	p.D187H	C3orf75_uc003crj.2_Missense_Mutation_p.D114H|C3orf75_uc011bba.1_Missense_Mutation_p.D138H|C3orf75_uc003crl.1_Missense_Mutation_p.D187H	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	187											0						TCCTCCGCATCTCCACTGTCG	0.562		NaN											0	0	0	1	0	28	25				
CELSR3	1951	broad.mit.edu	37	3	48678958	48678958	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48678958C>T	uc003cul.2	-	33	9106	c.8825_splice	c.e33-1	p.D2942_splice	CELSR3_uc003cuf.1_Splice_Site_p.D3040_splice|CELSR3_uc010hkf.2_Splice_Site_p.D232_splice|CELSR3_uc010hkg.2_Splice_Site_p.D925_splice	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3						homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATCCACATCTGTGGAGCCA	0.597		NaN											0	0	0	1	0	23	17				
CELSR3	1951	broad.mit.edu	37	3	48699135	48699135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48699135G>C	uc003cul.2	-	1	1214	c.933C>G	c.(931-933)AAC>AAG	p.N311K	CELSR3_uc003cuf.1_Missense_Mutation_p.N381K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	311	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCGTGCCCGGTTCGCCGAGG	0.706		NaN											0	0	0	1	0	15	28				
NCKIPSD	51517	broad.mit.edu	37	3	48716150	48716150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48716150G>C	uc003cun.2	-	12	1906	c.1812C>G	c.(1810-1812)TTC>TTG	p.F604L	NCKIPSD_uc003cum.2_Missense_Mutation_p.F597L	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	604					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTCATGTTTGAAGATGCGCA	0.587		NaN											0	0	0	1	0	16	40				
USP19	10869	broad.mit.edu	37	3	49153551	49153551	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49153551G>C	uc003cwd.1	-	9	1258	c.1097C>G	c.(1096-1098)TCT>TGT	p.S366C	USP19_uc003cwa.2_Missense_Mutation_p.S172C|USP19_uc003cvz.3_Missense_Mutation_p.S467C|USP19_uc011bcg.1_Missense_Mutation_p.S457C|USP19_uc003cwb.2_Missense_Mutation_p.S452C|USP19_uc003cwc.1_Missense_Mutation_p.S122C|USP19_uc011bch.1_Missense_Mutation_p.S467C|USP19_uc011bci.1_Missense_Mutation_p.S452C	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	366	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCGATGCGAGAAGCCGTGAA	0.572		NaN											0	0	0	1	0	3	16				
CCDC36	339834	broad.mit.edu	37	3	49293674	49293674	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49293674G>A	uc003cwk.2	+	10	1131	c.744G>A	c.(742-744)CTG>CTA	p.L248L	CCDC36_uc011bck.1_Silent_p.L248L	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	248										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TAGGCCAGCTGAATGTGCCCA	0.507		NaN											0	0	0	1	0	37	23				
DOCK3	1795	broad.mit.edu	37	3	51418783	51418783	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:51418783C>T	uc011bds.1	+	53	5909	c.5886C>T	c.(5884-5886)GTC>GTT	p.V1962V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1962						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGGTGCGTCATCCCTCAGG	0.682		NaN											0	0	0	1	0	13	29				
NEK4	6787	broad.mit.edu	37	3	52800388	52800388	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:52800388A>C	uc003dfq.3	-	3	553	c.364T>G	c.(364-366)TTA>GTA	p.L122V	NEK4_uc011bej.1_Missense_Mutation_p.L33V|NEK4_uc003dfr.2_Missense_Mutation_p.L122V	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	122	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTTCATGTAAATACTGAGGA	0.333		NaN											0	0	0	1	0	24	15				
CCDC66	285331	broad.mit.edu	37	3	56655611	56655611	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:56655611G>A	uc003dhz.2	+	18	2899	c.2812G>A	c.(2812-2814)GAA>AAA	p.E938K	CCDC66_uc003dhy.2_Missense_Mutation_p.E574K|CCDC66_uc003dhu.2_Missense_Mutation_p.E904K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Missense_Mutation_p.E306K|C3orf63_uc003dib.3_3'UTR|C3orf63_uc003dic.3_3'UTR|C3orf63_uc003die.3_3'UTR|C3orf63_uc003did.3_3'UTR	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	938										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCCTTTAGCTGAAAATCAAGA	0.358		NaN											0	0	0	1	0	26	50				
FAM116A	201627	broad.mit.edu	37	3	57631450	57631450	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:57631450G>C	uc003dja.2	-	11	1046	c.975C>G	c.(973-975)TTC>TTG	p.F325L		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	325										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AATAAGGTCGGAAATCACTGA	0.343		NaN											0	0	0	1	0	10	29				
PXK	54899	broad.mit.edu	37	3	58395832	58395832	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:58395832G>C	uc003djz.1	+	16	1510	c.1411G>C	c.(1411-1413)GCT>CCT	p.A471P	PXK_uc003djx.1_Missense_Mutation_p.A471P|PXK_uc003djy.1_Missense_Mutation_p.A454P|PXK_uc003dka.1_Missense_Mutation_p.A471P|PXK_uc003dkb.1_Missense_Mutation_p.A388P|PXK_uc003dkc.1_Missense_Mutation_p.A454P|PXK_uc011bfe.1_Missense_Mutation_p.A438P|PXK_uc010hnj.1_Missense_Mutation_p.A438P|PXK_uc003dkd.1_Missense_Mutation_p.A334P|PXK_uc010hnk.1_Missense_Mutation_p.A245P	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	471	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAACGATCTGCTCTTGAAAA	0.408		NaN											0	0	0	1	0	11	15				
OR5H1	26341	broad.mit.edu	37	3	97852408	97852408	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:97852408C>G	uc011bgt.1	+	1	867	c.867C>G	c.(865-867)ATC>ATG	p.I289M		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						ATCCTATCATCTACAGTCTGA	0.343		NaN											0	0	0	1	0	20	84				
OR5K1	26339	broad.mit.edu	37	3	98189098	98189098	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:98189098C>G	uc003dsm.2	+	1	678	c.678C>G	c.(676-678)TTC>TTG	p.F226L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						TTACTATTTTCAAAATGAAAT	0.343		NaN											0	0	0	1	0	75	58				
HHLA2	11148	broad.mit.edu	37	3	108074154	108074154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108074154C>G	uc003dwy.3	+	5	778	c.611C>G	c.(610-612)TCA>TGA	p.S204*	HHLA2_uc011bhl.1_Nonsense_Mutation_p.S140*|HHLA2_uc010hpu.2_Nonsense_Mutation_p.S204*|HHLA2_uc003dwz.2_Nonsense_Mutation_p.S204*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	204	Ig-like C1-type.					integral to membrane				ovary(1)	1						ATTACAGGATCAAATTCATCT	0.403		NaN											0	0	0	1	0	52	32				
TRAT1	50852	broad.mit.edu	37	3	108572606	108572606	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108572606C>G	uc003dxi.1	+	6	587	c.443C>G	c.(442-444)TCT>TGT	p.S148C	TRAT1_uc010hpx.1_Missense_Mutation_p.S111C	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	148	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						GCCAGCGTTTCTAAGACCACC	0.458		NaN											0	0	0	1	0	39	74				
ATP6V1A	523	broad.mit.edu	37	3	113500007	113500007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:113500007C>G	uc003eao.2	+	3	259	c.193C>G	c.(193-195)CAG>GAG	p.Q65E	ATP6V1A_uc011bik.1_Missense_Mutation_p.Q32E	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	65					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						GGCTACTATTCAGGTGTATGA	0.378		NaN											0	0	0	1	0	36	107				
KPNA1	3836	broad.mit.edu	37	3	122160940	122160940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:122160940G>C	uc003efd.1	-	10	977	c.941C>G	c.(940-942)TCT>TGT	p.S314C	KPNA1_uc003efb.1_Missense_Mutation_p.S113C|KPNA1_uc003efc.1_Missense_Mutation_p.S113C|KPNA1_uc011bjr.1_Missense_Mutation_p.S113C|KPNA1_uc010hrh.2_Missense_Mutation_p.S113C|KPNA1_uc003efe.2_Missense_Mutation_p.S314C	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	314	Binding to RAG1.|ARM 6.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		CAAAGCAGGAGAAACCACTTT	0.338		NaN											0	0	0	1	0	25	150				
ADCY5	111	broad.mit.edu	37	3	123166643	123166643	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:123166643C>T	uc003egh.1	-	1	750	c.750G>A	c.(748-750)GTG>GTA	p.V250V		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	250	Helical; (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GGCACACGAGCACCAGCACGG	0.662		NaN											0	0	0	1	0	8	30				
HEG1	57493	broad.mit.edu	37	3	124748209	124748209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:124748209G>A	uc003ehs.3	-	2	508	c.440C>T	c.(439-441)TCT>TTT	p.S147F	HEG1_uc011bke.1_Missense_Mutation_p.S147F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	147	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GCTCTTCCCAGAGGTCTGAAC	0.483		NaN											0	0	0	1	0	20	45				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	1	0	11	20				
H1FOO	132243	broad.mit.edu	37	3	129269986	129269986	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:129269986G>C	uc003emu.2	+	5	849	c.844G>C	c.(844-846)GTG>CTG	p.V282L	H1FOO_uc003emv.2_Missense_Mutation_p.V143L	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	282					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1						CAAAAAGAAGGTGGTGGCCAA	0.408		NaN											0	0	0	1	0	15	53				
NUDT16	131870	broad.mit.edu	37	3	131101103	131101103	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:131101103G>C	uc003eof.2	+	2	294	c.253G>C	c.(253-255)GAG>CAG	p.E85Q	uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.E72Q|NUDT16_uc003eog.1_Missense_Mutation_p.E85Q	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	nudix-type motif 16	118	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding				0						TCTGACGCTCGAGGAGCTGTT	0.657		NaN											0	0	0	1	0	13	38				
PCOLCE2	26577	broad.mit.edu	37	3	142606552	142606552	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:142606552C>T	uc003evd.2	-	2	347	c.151G>A	c.(151-153)GGA>AGA	p.G51R		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	51	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						GGGTACACTCCAGGAAAACCT	0.398		NaN											0	0	0	1	0	19	30				
MLF1	4291	broad.mit.edu	37	3	158314723	158314723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:158314723G>C	uc003fcb.2	+	3	405	c.268G>C	c.(268-270)GAA>CAA	p.E90Q	MLF1_uc003fbz.2_Missense_Mutation_p.E65Q|MLF1_uc003fca.2_Missense_Mutation_p.E65Q|MLF1_uc003fbx.2_Missense_Mutation_p.E80Q|MLF1_uc003fcc.2_Missense_Mutation_p.E121Q|MLF1_uc003fby.2_Missense_Mutation_p.E16Q|MLF1_uc010hvx.2_Missense_Mutation_p.E65Q	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	90	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GCAGAAATTAGAAAGAAACTT	0.264		NaN	T	NPM1	AML								0	0	0	1	0	20	6				
SMC4	10051	broad.mit.edu	37	3	160150149	160150149	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160150149G>C	uc003fdh.2	+	22	3489	c.3376G>C	c.(3376-3378)GAT>CAT	p.D1126H	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D1101H|SMC4_uc003fdj.2_Missense_Mutation_p.D1126H|SMC4_uc010hwd.2_Missense_Mutation_p.D1068H|SMC4_uc003fdl.2_Missense_Mutation_p.D829H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	1126	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCATATGAAGATCTTCGGAA	0.338		NaN											0	0	0	1	0	16	65				
PPM1L	151742	broad.mit.edu	37	3	160786817	160786817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160786817G>A	uc003fdr.2	+	4	1056	c.955G>A	c.(955-957)GAG>AAG	p.E319K	PPM1L_uc003fds.2_Missense_Mutation_p.E140K|PPM1L_uc003fdt.2_Missense_Mutation_p.E192K|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	319	Cytoplasmic (Potential).|PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTCATCAAGGAGCGCTTGGA	0.468		NaN											0	0	0	1	0	58	45				
PRKCI	5584	broad.mit.edu	37	3	170020896	170020896	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170020896C>G	uc003fgs.2	+	18	2010	c.1772C>G	c.(1771-1773)TCT>TGT	p.S591C	PRKCI_uc003fgt.2_Missense_Mutation_p.S146C	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	591	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTTTGATGTCTGCAGAAGAA	0.333		NaN											0	0	0	1	0	8	40				
SKIL	6498	broad.mit.edu	37	3	170108880	170108880	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170108880G>C	uc003fgu.2	+	6	2440	c.1728G>C	c.(1726-1728)CAG>CAC	p.Q576H	SKIL_uc011bps.1_Missense_Mutation_p.Q556H|SKIL_uc003fgv.2_Missense_Mutation_p.Q530H|SKIL_uc003fgw.2_Missense_Mutation_p.Q576H	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	576	Potential.				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGAACAGCAGAATTTACAGA	0.313		NaN											0	0	0	1	0	31	10				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	25	84		Valid		
MCF2L2	23101	broad.mit.edu	37	3	183097188	183097188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:183097188C>G	uc003fli.1	-	3	262	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	MCF2L2_uc003flj.1_Missense_Mutation_p.E58Q|MCF2L2_uc003flp.1_Missense_Mutation_p.E93Q	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	58	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGCCATCCTCCCCTCGGCCT	0.512		NaN											0	0	0	1	0	23	9				
CHRD	8646	broad.mit.edu	37	3	184107170	184107170	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:184107170G>A	uc003fov.2	+	23	3074	c.2828G>A	c.(2827-2829)AGA>AAA	p.R943K	CHRD_uc003fow.2_Missense_Mutation_p.R573K|CHRD_uc003fox.2_Missense_Mutation_p.R942K|CHRD_uc003foy.2_Missense_Mutation_p.R573K|CHRD_uc010hyc.2_Missense_Mutation_p.R533K|CHRD_uc011brr.1_Missense_Mutation_p.R485K	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	943					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGAGACCAGAACTGATCCA	0.512		NaN											0	0	0	1	0	6	13				
AHSG	197	broad.mit.edu	37	3	186334313	186334313	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:186334313C>G	uc003fqk.3	+	3	487	c.406C>G	c.(406-408)CCA>GCA	p.P136A	AHSG_uc003fqj.2_Missense_Mutation_p.P136A|AHSG_uc003fql.3_Missense_Mutation_p.P136A|AHSG_uc003fqm.3_Missense_Mutation_p.P135A|AHSG_uc010hyp.2_Missense_Mutation_p.P99A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	136					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGATTCCAGTCCAGGTACAGA	0.413		NaN											0	0	0	1	0	4	20				
CLDN16	10686	broad.mit.edu	37	3	190120206	190120206	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:190120206T>C	uc003fsi.2	+	2	473	c.405T>C	c.(403-405)GAT>GAC	p.D135D	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	135	Extracellular (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGAGTACGATTCCATACTTG	0.488		NaN											0	0	0	1	0	28	89				
LSG1	55341	broad.mit.edu	37	3	194371614	194371614	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:194371614G>C	uc003fui.2	-	10	1730	c.1415C>G	c.(1414-1416)TCA>TGA	p.S472*		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	472					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGATATTAGTGATACAGGAGG	0.418		NaN											0	0	0	1	0	25	49				
PPP1R2	5504	broad.mit.edu	37	3	195251628	195251628	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:195251628G>A	uc003fup.2	-	3	673	c.297C>T	c.(295-297)ATC>ATT	p.I99I		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	99					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCCTGGCTAAGATGTCTGGCG	0.468		NaN											0	0	0	1	0	21	33				
CRMP1	1400	broad.mit.edu	37	4	5851128	5851128	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:5851128C>G	uc003gip.2	-	7	713	c.612G>C	c.(610-612)TTG>TTC	p.L204F	CRMP1_uc003gin.1_Missense_Mutation_p.L116F|CRMP1_uc003giq.2_Missense_Mutation_p.L204F|CRMP1_uc003gir.2_Missense_Mutation_p.L199F|CRMP1_uc003gis.2_Missense_Mutation_p.L318F	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	204					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCTGAGCTATCAAATCTCCAT	0.458		NaN											0	0	0	1	0	15	59				
BOD1L	259282	broad.mit.edu	37	4	13604756	13604756	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:13604756C>G	uc003gmz.1	-	10	3885	c.3768G>C	c.(3766-3768)TTG>TTC	p.L1256F	BOD1L_uc010idr.1_Missense_Mutation_p.L593F	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1256							DNA binding			ovary(5)|breast(1)	6						CTGTGTTTTTCAAATTCTTCT	0.393		NaN											0	0	0	1	0	6	58				
SEL1L3	23231	broad.mit.edu	37	4	25760599	25760599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:25760599G>C	uc003gru.3	-	21	3199	c.3047C>G	c.(3046-3048)TCT>TGT	p.S1016C	SEL1L3_uc003grt.2_Missense_Mutation_p.S64C|SEL1L3_uc003grv.2_Missense_Mutation_p.S423C	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	1016						integral to membrane	binding				0						GATGTTATTAGAATGGAGAGT	0.428		NaN											0	0	0	1	0	41	48				
RBPJ	3516	broad.mit.edu	37	4	26417162	26417162	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:26417162T>C	uc003grx.1	+	5	496	c.260T>C	c.(259-261)ATG>ACG	p.M87T	RBPJ_uc003gry.1_Missense_Mutation_p.M72T|RBPJ_uc003grz.1_Missense_Mutation_p.M87T|RBPJ_uc011bxt.1_Missense_Mutation_p.M87T|RBPJ_uc003gsa.1_Missense_Mutation_p.M73T|RBPJ_uc003gsb.1_Missense_Mutation_p.M74T|RBPJ_uc003gsc.1_Missense_Mutation_p.M73T	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	87					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				AAAGAACAAATGGAACGCGAT	0.388		NaN											0	0	0	1	0	37	94				
PCDH7	5099	broad.mit.edu	37	4	30723251	30723251	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30723251G>T	uc003gsk.1	+	1	1215	c.207G>T	c.(205-207)GAG>GAT	p.E69D	PCDH7_uc011bxw.1_Missense_Mutation_p.E69D|PCDH7_uc011bxx.1_Missense_Mutation_p.E69D	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	69	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TCAGCCTGGAGTCCGGTTCCG	0.647		NaN											1	0	3.59834e-05	1	3.70396e-05	6	34				
PCDH7	5099	broad.mit.edu	37	4	30724469	30724469	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30724469C>T	uc003gsk.1	+	1	2433	c.1425C>T	c.(1423-1425)GAC>GAT	p.D475D	PCDH7_uc011bxw.1_Silent_p.D428D|PCDH7_uc011bxx.1_Silent_p.D475D	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	475	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CAGCCAGCGACACCGAGGGCG	0.627		NaN											0	0	0	1	0	8	31				
WDR19	57728	broad.mit.edu	37	4	39280196	39280196	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:39280196G>C	uc003gtv.2	+	36	4109	c.3955G>C	c.(3955-3957)GAA>CAA	p.E1319Q	WDR19_uc011byi.1_Missense_Mutation_p.E1159Q	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1319					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TATGTGTTCAGAAAGATTAAA	0.443		NaN											0	0	0	1	0	23	37				
TXK	7294	broad.mit.edu	37	4	48078437	48078437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078437G>C	uc003gxx.3	-	12	1306	c.1220C>G	c.(1219-1221)TCA>TGA	p.S407*	TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonsense_Mutation_p.S94*	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	407	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TCCAAAGTCTGAAATTTTTAC	0.308		NaN											0	0	0	1	0	14	31				
TXK	7294	broad.mit.edu	37	4	48078458	48078458	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078458G>A	uc003gxx.3	-	12	1285	c.1199C>T	c.(1198-1200)TCA>TTA	p.S400L	TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.S87L	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	400	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TATGCATGTTGAACTGACCAA	0.323		NaN											0	0	0	1	0	16	38				
SLAIN2	57606	broad.mit.edu	37	4	48371957	48371957	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48371957C>T	uc003gya.3	+	2	625	c.481C>T	c.(481-483)CCT>TCT	p.P161S		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	161						centrosome					0						TTACCCAAGTCCTGATGTTGA	0.358		NaN											0	0	0	1	0	8	45				
PPAT	5471	broad.mit.edu	37	4	57272738	57272738	+	Missense_Mutation	SNP	C	C	T	rs141469911		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:57272738C>T	uc003hbr.2	-	3	527	c.325G>A	c.(325-327)GTT>ATT	p.V109I		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	109	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	GTTTCAACAACGAAGGGCTGA	0.378		NaN											0	0	0	1	0	22	50				
UBA6	55236	broad.mit.edu	37	4	68530981	68530981	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:68530981C>T	uc003hdg.3	-	10	875	c.823G>A	c.(823-825)GAC>AAC	p.D275N	UBA6_uc003hdi.2_Missense_Mutation_p.D275N|UBA6_uc003hdj.2_Missense_Mutation_p.D275N	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	275					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TCTGTGGTGTCACCAATACTA	0.299		NaN											0	0	0	1	0	14	44				
YTHDC1	91746	broad.mit.edu	37	4	69202901	69202901	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:69202901C>G	uc003hdx.2	-	4	1080	c.727G>C	c.(727-729)GAG>CAG	p.E243Q	YTHDC1_uc003hdy.2_Missense_Mutation_p.E243Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	243	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						tcctcctcctcctcctcctct	0.184		NaN											0	0	0	1	0	7	31				
MOBKL1A	92597	broad.mit.edu	37	4	71824646	71824646	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824646C>T	uc003hfw.2	+	2	260	c.70C>T	c.(70-72)CAC>TAC	p.H24Y	MOBKL1A_uc003hfv.1_Missense_Mutation_p.H24Y|MOBKL1A_uc011cba.1_Missense_Mutation_p.H29Y	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	24					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			AGAGGGTTCTCACCAGTATGA	0.413		NaN											0	0	0	1	0	59	24				
MOBKL1A	92597	broad.mit.edu	37	4	71824735	71824735	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824735C>T	uc003hfw.2	+	2	349	c.159C>T	c.(157-159)CTC>CTT	p.L53L	MOBKL1A_uc003hfv.1_Silent_p.L53L|MOBKL1A_uc011cba.1_Silent_p.L58L	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	53					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			GGGAAGATCTCAATGAATGGG	0.468		NaN											0	0	0	1	0	29	22				
SEPT11	55752	broad.mit.edu	37	4	77952017	77952017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:77952017G>T	uc003hkj.2	+	9	1330	c.1168G>T	c.(1168-1170)GAG>TAG	p.E390*	SEPT11_uc010ijh.1_Nonsense_Mutation_p.E382*|SEPT11_uc011cca.1_Nonsense_Mutation_p.E400*	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	390	Potential.				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						GGAGCTTGAGGAGGAGGTGAA	0.468		NaN											1	0	7.48243e-07	1	7.82884e-07	10	37				
SCD5	79966	broad.mit.edu	37	4	83552481	83552481	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83552481C>G	uc003hna.2	-	5	1312	c.992G>C	c.(991-993)TGA>TCA	p.*331S		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	331					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTTCCAAGTTCAAGCACTGCT	0.562		NaN											0	0	0	1	0	5	17				
COPS4	51138	broad.mit.edu	37	4	83984258	83984258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83984258C>G	uc003hoa.2	+	7	884	c.745C>G	c.(745-747)CTT>GTT	p.L249V	COPS4_uc003hob.2_Missense_Mutation_p.L249V|COPS4_uc010ijw.2_Missense_Mutation_p.L249V|COPS4_uc010ijx.2_Missense_Mutation_p.L249V	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	249	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				GCTAGCTACTCTTTTTAAGGA	0.378		NaN											0	0	0	1	0	20	55				
PTPN13	5783	broad.mit.edu	37	4	87622564	87622564	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87622564G>C	uc003hpz.2	+	7	1285	c.805G>C	c.(805-807)GAA>CAA	p.E269Q	PTPN13_uc003hpy.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E269Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E269Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	269						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGAAGATTCTGAAAATACATT	0.383		NaN											0	0	0	1	0	9	23				
SLC10A6	345274	broad.mit.edu	37	4	87749251	87749251	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87749251G>C	uc003hqd.2	-	4	804	c.656C>G	c.(655-657)TCT>TGT	p.S219C		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	219	Extracellular (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGAATTCCAAGATCCTTTCGC	0.478		NaN											0	0	0	1	0	7	40				
HERC6	55008	broad.mit.edu	37	4	89363544	89363544	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89363544G>C	uc011cdi.1	+	23	3184	c.3001G>C	c.(3001-3003)GAG>CAG	p.E1001Q	HERC6_uc011cdj.1_Missense_Mutation_p.E965Q|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	1001	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGAAAGAATGGAGGAAGCACT	0.428		NaN											0	0	0	1	0	4	18				
FAM13A	10144	broad.mit.edu	37	4	89912254	89912254	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89912254C>G	uc003hse.1	-	4	683	c.475G>C	c.(475-477)GAG>CAG	p.E159Q	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.E159Q|FAM13A_uc003hsj.2_Missense_Mutation_p.E159Q	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	159	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TCTGGCAGCTCTTTTATTAAG	0.383		NaN											0	0	0	1	0	6	20				
TBCK	93627	broad.mit.edu	37	4	107170104	107170104	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:107170104C>T	uc010ilv.2	-	8	1059	c.694G>A	c.(694-696)GAG>AAG	p.E232K	TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.E193K|TBCK_uc003hyc.2_Missense_Mutation_p.E169K|TBCK_uc003hyd.2_Missense_Mutation_p.E60K|TBCK_uc003hyf.2_Missense_Mutation_p.E232K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	232	Protein kinase.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CAACCATGCTCTTCAGCCAGA	0.219		NaN											0	0	0	1	0	18	15				
SEC24B	10427	broad.mit.edu	37	4	110384480	110384480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:110384480C>G	uc003hzk.2	+	2	612	c.557C>G	c.(556-558)TCA>TGA	p.S186*	SEC24B_uc003hzl.2_Nonsense_Mutation_p.S186*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.S217*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.S186*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.S186*	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	186					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TATGCTATGTCAACTGTTTCT	0.453		NaN											0	0	0	1	0	44	144				
PRDM5	11107	broad.mit.edu	37	4	121828712	121828712	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:121828712C>A	uc003idn.2	-	2	344	c.94G>T	c.(94-96)GGT>TGT	p.G32C	PRDM5_uc003ido.2_Missense_Mutation_p.G32C|PRDM5_uc010ine.2_Missense_Mutation_p.G32C|PRDM5_uc010inf.2_Missense_Mutation_p.G32C|PRDM5_uc003idp.1_Missense_Mutation_p.G32C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	32	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						AACTTTTCACCCTGAGTAGCA	0.358		NaN											1	0	5.35267e-07	1	5.62362e-07	20	26				
KIAA1109	84162	broad.mit.edu	37	4	123274148	123274148	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:123274148G>C	uc003ieh.2	+	79	13984	c.13939G>C	c.(13939-13941)GAA>CAA	p.E4647Q	KIAA1109_uc003iem.2_Missense_Mutation_p.E1003Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4647					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCCATTACCAGAAGATGGAAT	0.413		NaN											0	0	0	1	0	20	33				
SLC25A31	83447	broad.mit.edu	37	4	128665848	128665848	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:128665848G>T	uc003ifl.2	+	2	400	c.254G>T	c.(253-255)GGC>GTC	p.G85V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	85	Solcar 1.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						TTTTGGCGTGGCAATTTGGCA	0.318		NaN											1	0	2.23348e-06	1	2.32731e-06	17	67				
RNF150	57484	broad.mit.edu	37	4	141832307	141832307	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:141832307T>G	uc003iio.1	-	6	1843	c.1189A>C	c.(1189-1191)ACT>CCT	p.T397P	RNF150_uc010iok.1_Missense_Mutation_p.T355P|RNF150_uc003iip.1_Missense_Mutation_p.T397P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	397	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					CTGTTAGTAGTAAAGATGACG	0.463		NaN											0	0	0	1	0	5	33				
MORF4	10934	broad.mit.edu	37	4	174537200	174537200	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:174537200A>G	uc011cke.1	-	1	595	c.595T>C	c.(595-597)TTA>CTA	p.L199L		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TAATTGAGTAATAAAGCAAGG	0.428		NaN											0	0	0	1	0	22	30				
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:11411762C>A	uc003jfa.1	-	5	470	c.325G>T	c.(325-327)GGT>TGT	p.G109C	CTNND2_uc010itt.2_Missense_Mutation_p.G18C|CTNND2_uc011cmy.1_Missense_Mutation_p.G18C|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TCTTTTTGACCATCTGAAATG	0.338		NaN											1	0	9.62906e-15	1	1.05753e-14	42	27				
MYO10	4651	broad.mit.edu	37	5	16769282	16769282	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:16769282C>G	uc003jft.3	-	10	1429	c.961G>C	c.(961-963)GAG>CAG	p.E321Q	MYO10_uc010itx.2_5'Flank	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	321	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CGAACTTCCTCCTTGCTGAAC	0.418		NaN											0	0	0	1	0	7	34				
CDH6	1004	broad.mit.edu	37	5	31317550	31317550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:31317550G>C	uc003jhe.1	+	10	1907	c.1581G>C	c.(1579-1581)TTG>TTC	p.L527F	CDH6_uc003jhd.1_Missense_Mutation_p.L527F	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	527	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CGTTTTCCTTGGCCCCTGAAG	0.413		NaN											0	0	0	1	0	29	114				
PDZD2	23037	broad.mit.edu	37	5	32074700	32074700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:32074700C>T	uc003jhl.2	+	18	3876	c.3488C>T	c.(3487-3489)TCT>TTT	p.S1163F	PDZD2_uc003jhm.2_Missense_Mutation_p.S1163F|PDZD2_uc011cnx.1_Missense_Mutation_p.S989F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1163					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAGGCCACTTCTGTCAAAGTG	0.522		NaN											0	0	0	1	0	41	23				
NIPBL	25836	broad.mit.edu	37	5	37016225	37016225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:37016225G>A	uc003jkl.3	+	23	5228	c.4729G>A	c.(4729-4731)GAA>AAA	p.E1577K	NIPBL_uc003jkk.3_Missense_Mutation_p.E1577K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1577					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATAAGCCTGAATGGCCAGC	0.368		NaN											0	0	0	1	0	57	34				
EGFLAM	133584	broad.mit.edu	37	5	38407999	38407999	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:38407999G>C	uc003jlc.1	+	9	1564	c.1240G>C	c.(1240-1242)GAA>CAA	p.E414Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.E414Q|EGFLAM_uc003jle.1_Missense_Mutation_p.E180Q|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	414	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					AATTACTCTTGAATTTAGGGT	0.413		NaN											0	0	0	1	0	13	61				
HCN1	348980	broad.mit.edu	37	5	45396805	45396805	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:45396805G>A	uc003jok.2	-	4	1044	c.1019C>T	c.(1018-1020)TCT>TTT	p.S340F		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	340	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTTTCCCCAAGAATCATTCTG	0.428		NaN											0	0	0	1	0	19	59				
DHX29	54505	broad.mit.edu	37	5	54581607	54581607	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:54581607C>G	uc003jpx.2	-	9	1269	c.1149G>C	c.(1147-1149)CTG>CTC	p.L383L	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	383							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCCAATCAATCAGAAATTGTT	0.348		NaN											0	0	0	1	0	13	14				
GFM2	84340	broad.mit.edu	37	5	74035829	74035829	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:74035829C>G	uc003kdh.1	-	12	1368	c.1064G>C	c.(1063-1065)CGT>CCT	p.R355P	GFM2_uc003kdi.1_Missense_Mutation_p.R355P|GFM2_uc010izj.1_Missense_Mutation_p.R387P|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R355P|GFM2_uc010izl.1_Missense_Mutation_p.R313P	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	355					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTCATAGTTACGCTCTTCAGG	0.363		NaN											0	0	0	1	0	17	1				
WDR41	55255	broad.mit.edu	37	5	76736794	76736794	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:76736794G>A	uc003kff.1	-	9	1013	c.726C>T	c.(724-726)GTC>GTT	p.V242V	WDR41_uc011csy.1_Silent_p.V184V|WDR41_uc011csz.1_Silent_p.V187V|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242	WD 4.										0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCAGCTCTCCGACGTGGGAGC	0.453		NaN											0	0	0	1	0	11	27				
SERINC5	256987	broad.mit.edu	37	5	79473155	79473155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:79473155G>C	uc003kgj.2	-	4	568	c.439C>G	c.(439-441)CAG>GAG	p.Q147E	SERINC5_uc003kgk.2_Missense_Mutation_p.Q147E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.Q147E|SERINC5_uc011ctj.1_Missense_Mutation_p.Q147E	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	147	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AAGGTGTCCTGATCTGGAATG	0.413		NaN											0	0	0	1	0	29	4				
TTC37	9652	broad.mit.edu	37	5	94834293	94834293	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:94834293G>C	uc003klb.2	-	33	3614	c.3344C>G	c.(3343-3345)TCT>TGT	p.S1115C		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1115							binding			ovary(3)|pancreas(1)	4						CTTTAAGATAGAGCTGTAAAG	0.279		NaN											0	0	0	1	0	11	15				
GLRX	2745	broad.mit.edu	37	5	95158310	95158310	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:95158310G>C	uc003klo.3	-	1	268	c.57C>G	c.(55-57)ATC>ATG	p.I19M	GLRX_uc003kln.3_Missense_Mutation_p.I19M	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	19	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding				0		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	AGGTGGGCTTGATGAACACAA	0.547		NaN											0	0	0	1	0	19	29				
ERAP2	64167	broad.mit.edu	37	5	96219518	96219518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96219518G>C	uc003kmq.2	+	3	1308	c.598G>C	c.(598-600)GAG>CAG	p.E200Q	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.E200Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.E194Q|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	200	Lumenal (Potential).	Substrate (By similarity).			antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AACAGATTTTGAGCCAACCCA	0.433		NaN											0	0	0	1	0	15	18				
ERAP2	64167	broad.mit.edu	37	5	96249154	96249154	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96249154C>T	uc003kmq.2	+	17	3360	c.2650C>T	c.(2650-2652)CTG>TTG	p.L884L	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.L884L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.L833L|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	884	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GACCCATCTTCTGAAAAAGTT	0.413		NaN											0	0	0	1	0	7	15				
RIOK2	55781	broad.mit.edu	37	5	96503580	96503580	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96503580C>G	uc003kmz.2	-	8	1098	c.988G>C	c.(988-990)GAG>CAG	p.E330Q	RIOK2_uc003kna.3_Missense_Mutation_p.E330Q	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	330	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCAGATCCCTCTTTTGTTTCA	0.408		NaN											0	0	0	1	0	52	69				
REEP5	7905	broad.mit.edu	37	5	112238167	112238167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:112238167C>G	uc003kqe.1	-	3	405	c.261G>C	c.(259-261)CTG>CTC	p.L87L	REEP5_uc011cvw.1_Silent_p.L60L|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.L87L|REEP5_uc011cvz.1_Intron	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	87						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CCCAGTAGGTCAGCCACTGGG	0.398		NaN											0	0	0	1	0	13	28				
LOX	4015	broad.mit.edu	37	5	121413262	121413262	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:121413262G>A	uc003ksu.2	-	1	794	c.419C>T	c.(418-420)TCG>TTG	p.S140L	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	140					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTCCGCGCGCGAGGCGCCAGC	0.692		NaN											0	0	0	1	0	14	3				
PRRC1	133619	broad.mit.edu	37	5	126862374	126862374	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:126862374C>T	uc003kuk.2	+	4	738	c.558C>T	c.(556-558)ACC>ACT	p.T186T	PRRC1_uc003kuj.3_Silent_p.T186T	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	186						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAACTGGAACCACATCAGCCA	0.413		NaN											0	0	0	1	0	16	17				
EGR1	1958	broad.mit.edu	37	5	137801586	137801586	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:137801586C>A	uc003ldb.1	+	1	406	c.136C>A	c.(136-138)CCC>ACC	p.P46T	EGR1_uc011cyu.1_Missense_Mutation_p.P46T	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	46					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAACGGGGCTCCCCAGTTCCT	0.433		NaN											1	0	2.40579e-17	1	2.66234e-17	37	2				
PCDHB1	29930	broad.mit.edu	37	5	140432144	140432144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140432144G>C	uc003lik.1	+	1	1166	c.1089G>C	c.(1087-1089)CAG>CAC	p.Q363H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	363	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCACCACAGACAGTAGTAG	0.502		NaN											0	0	0	1	0	19	31				
PCDHB2	56133	broad.mit.edu	37	5	140476693	140476693	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140476693C>T	uc003lil.2	+	1	2457	c.2319C>T	c.(2317-2319)ATC>ATT	p.I773I	PCDHB2_uc003lim.1_Silent_p.I434I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	773	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCAATTATCCCCAACTTCG	0.512		NaN											0	0	0	1	0	40	10				
PCDHB5	26167	broad.mit.edu	37	5	140516663	140516663	+	Silent	SNP	G	G	A	rs149096993		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140516663G>A	uc003liq.2	+	1	1864	c.1647G>A	c.(1645-1647)CTG>CTA	p.L549L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	549	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCGTGCTGGTGCTGGACG	0.721		NaN											0	0	0	1	0	21	37				
PCDHGA7	56108	broad.mit.edu	37	5	140763490	140763490	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763490G>A	uc003lka.1	+	1	1024	c.1024G>A	c.(1024-1026)GAT>AAT	p.D342N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D342N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	342	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTAAATGATAATGCTCC	0.413		NaN											0	0	0	1	0	38	5				
PCDHGA7	56108	broad.mit.edu	37	5	140763541	140763541	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763541G>A	uc003lka.1	+	1	1075	c.1075G>A	c.(1075-1077)GAC>AAC	p.D359N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.D359N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	359	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCCTGAAGACACACCTCT	0.418		NaN											0	0	0	1	0	26	4				
SPINK5	11005	broad.mit.edu	37	5	147449904	147449904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:147449904C>T	uc003lox.2	+	3	173	c.100C>T	c.(100-102)CAG>TAG	p.Q34*	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Nonsense_Mutation_p.Q6*|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Nonsense_Mutation_p.Q34*|SPINK5_uc003loy.2_Nonsense_Mutation_p.Q34*	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	34	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAATTTCAGGCATTTAT	0.289		NaN											0	0	0	1	0	29	4				
IL17B	27190	broad.mit.edu	37	5	148754083	148754083	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:148754083G>A	uc003lqo.2	-	3	442	c.392C>T	c.(391-393)ACC>ATC	p.T131I		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	131					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGCATGGTGAAGGGGTT	0.682		NaN											0	0	0	1	0	18	17				
SLC36A3	285641	broad.mit.edu	37	5	150660605	150660605	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:150660605A>G	uc003ltw.2	-	9	1533	c.1114T>C	c.(1114-1116)TCT>CCT	p.S372P	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.S357P|SLC36A3_uc003ltx.2_Missense_Mutation_p.S413P	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	372	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGGACAGACAGGTCTACA	0.552		NaN											0	0	0	1	0	19	23				
GEMIN5	25929	broad.mit.edu	37	5	154268890	154268890	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:154268890C>G	uc003lvx.3	-	27	4433	c.4350G>C	c.(4348-4350)GAG>GAC	p.E1450D	GEMIN5_uc011ddk.1_Missense_Mutation_p.E1449D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1450					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTAATGCTCTCAGGAAATT	0.368		NaN											0	0	0	1	0	13	16				
ITK	3702	broad.mit.edu	37	5	156659373	156659373	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:156659373G>A	uc003lwo.1	+	8	819	c.737G>A	c.(736-738)CGA>CAA	p.R246Q		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	246	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTATCAGCCGAGACAAAGCT	0.269		NaN	T	SYK	peripheral T-cell lymphoma								0	0	0	1	0	16	1				
STK10	6793	broad.mit.edu	37	5	171544538	171544538	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:171544538C>T	uc003mbo.1	-	4	767	c.467G>A	c.(466-468)CGA>CAA	p.R156Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	156	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTCAGATCTCGGTGGATGAT	0.597		NaN											0	0	0	1	0	16	19				
UNC5A	90249	broad.mit.edu	37	5	176304229	176304229	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:176304229G>T	uc003mey.2	+	9	1607	c.1415G>T	c.(1414-1416)CGA>CTA	p.R472L		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	472	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATACCCCGAGGGAAGATC	0.637		NaN											1	0	7.26314e-15	1	7.98553e-15	29	2				
MAPK9	5601	broad.mit.edu	37	5	179707519	179707519	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:179707519C>G	uc003mls.3	-	2	314	c.43G>C	c.(43-45)GTG>CTG	p.V15L	MAPK9_uc003mlt.3_Missense_Mutation_p.V15L|MAPK9_uc010jlc.2_Missense_Mutation_p.V15L|MAPK9_uc003mlv.3_Missense_Mutation_p.V15L|MAPK9_uc011dgx.1_Missense_Mutation_p.V15L	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	15					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTGCCACTTGCACACTA	0.458		NaN											0	0	0	1	0	8	43				
ACOT13	55856	broad.mit.edu	37	6	24667557	24667557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24667557G>C	uc003nek.2	+	1	295	c.66G>C	c.(64-66)GAG>GAC	p.E22D	TDP2_uc003nei.2_5'Flank|TDP2_uc003nej.2_5'Flank|TDP2_uc010jpu.1_5'Flank|ACOT13_uc010jpv.2_5'UTR	NM_018473	NP_060943	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13 isoform 1	22					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity				0						GCAATTTTGAGAGAGTTTTGG	0.502		NaN									OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	13	29				
FAM65B	9750	broad.mit.edu	37	6	24843425	24843425	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24843425C>G	uc003neo.1	-	14	1761	c.1585G>C	c.(1585-1587)GAG>CAG	p.E529Q	FAM65B_uc011djs.1_Missense_Mutation_p.E508Q|FAM65B_uc011dju.1_Missense_Mutation_p.E513Q|FAM65B_uc003nep.2_Missense_Mutation_p.E479Q|FAM65B_uc011djt.1_Missense_Mutation_p.E479Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	529					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						AACAGGTGCTCAGCCCCAGCA	0.572		NaN											0	0	0	1	0	18	68				
LRRC16A	55604	broad.mit.edu	37	6	25581557	25581557	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:25581557C>T	uc011djw.1	+	31	3272	c.2896C>T	c.(2896-2898)CGG>TGG	p.R966W	LRRC16A_uc010jpx.2_Missense_Mutation_p.R966W|LRRC16A_uc010jpy.2_Missense_Mutation_p.R966W	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	966	LRR 11.|Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						ACAGGAGAAGCGGAGCTCGGG	0.463		NaN											0	0	0	1	0	15	5				
DHX16	8449	broad.mit.edu	37	6	30624524	30624524	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:30624524G>C	uc003nqz.2	-	14	2373	c.2161C>G	c.(2161-2163)CAG>GAG	p.Q721E	DHX16_uc003nqy.2_Missense_Mutation_p.Q240E|DHX16_uc011dmo.1_Missense_Mutation_p.Q661E	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	721	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						CCAGCTCGCTGATTGGCTGAG	0.542		NaN											0	0	0	1	0	18	50				
HLA-C	3107	broad.mit.edu	37	6	31237268	31237268	+	Splice_Site	SNP	A	A	C	rs111308207		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:31237268A>C	uc003nsy.2	-	6	1055	c.1048_splice	c.e6+1	p.C350_splice	HLA-C_uc011dnj.1_Splice_Site_p.C322_splice|HLA-C_uc003nsx.2_Splice_Site_p.C229_splice|HLA-C_uc003nsz.2_Splice_Site_p.C356_splice|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Splice_Site_p.S350_splice|HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Splice_Site	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GCCATCACTTACACGCAGCCT	0.557		NaN											0	0	0	1	0	5	14				
TEAD3	7005	broad.mit.edu	37	6	35443426	35443426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35443426G>A	uc003oku.3	-	11	1194	c.958C>T	c.(958-960)CAG>TAG	p.Q320*	TEAD3_uc003okt.2_Nonsense_Mutation_p.Q209*|TEAD3_uc010jvx.2_Nonsense_Mutation_p.Q260*	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	320	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGCTGTACTGAGAGCTGACC	0.612		NaN											0	0	0	1	0	18	39				
TULP1	7287	broad.mit.edu	37	6	35478728	35478728	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35478728C>G	uc003okv.3	-	5	421	c.409G>C	c.(409-411)GAG>CAG	p.E137Q	TULP1_uc003okw.3_Missense_Mutation_p.E84Q	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	137					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						AGGATTTTctctttcttttcc	0.408		NaN											0	0	0	1	0	19	31				
LHFPL5	222662	broad.mit.edu	37	6	35773514	35773514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35773514C>T	uc003olg.1	+	1	444	c.67C>T	c.(67-69)CGA>TGA	p.R23*		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	23						integral to membrane				skin(1)	1						GCGGAACTCGCGAGCCGTGGG	0.617		NaN											0	0	0	1	0	24	59				
BTBD9	114781	broad.mit.edu	37	6	38561774	38561774	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38561774A>G	uc003ooa.3	-	4	1091	c.515T>C	c.(514-516)GTC>GCC	p.V172A	BTBD9_uc003ony.3_Missense_Mutation_p.V104A|BTBD9_uc010jwv.2_Missense_Mutation_p.V104A|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.V172A	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	172	BACK.				cell adhesion						0						ACTTGAGAGGACTTCCTGAGC	0.383		NaN											0	0	0	1	0	48	137				
GLO1	2739	broad.mit.edu	37	6	38670780	38670780	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38670780G>A	uc003ooc.2	-	1	173	c.51C>T	c.(49-51)CTC>CTT	p.L17L		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	17					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	AGCAGCAACTGAGGGCGGCCT	0.692		NaN											0	0	0	1	0	10	1				
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:43322436G>C	uc003oux.2	-	4	2714	c.2636C>G	c.(2635-2637)TCT>TGT	p.S879C	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879	Potential.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438		NaN											0	0	0	1	0	67	5				
NFKBIE	4794	broad.mit.edu	37	6	44232769	44232769	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:44232769C>G	uc003oxe.1	-	1	757	c.732G>C	c.(730-732)CTG>CTC	p.L244L		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	244					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGGGCTCAGCGCCCCCA	0.662		NaN											0	0	0	1	0	3	2				
C6orf138	442213	broad.mit.edu	37	6	47847059	47847059	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:47847059A>C	uc011dwm.1	-	3	1555	c.1470T>G	c.(1468-1470)GTT>GTG	p.V490V	C6orf138_uc011dwn.1_Silent_p.V254V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	507						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						ATTTCTGCTGAACCATGGCAT	0.478		NaN											0	0	0	1	0	9	3				
TFAP2D	83741	broad.mit.edu	37	6	50740451	50740451	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:50740451A>G	uc003paf.2	+	8	1745	c.1233A>G	c.(1231-1233)AAA>AAG	p.K411K	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	411							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACTTGGAAAAACACACTACTC	0.502		NaN											0	0	0	1	0	16	28				
GSTA2	2939	broad.mit.edu	37	6	52615459	52615459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:52615459C>G	uc003pay.2	-	7	735	c.585G>C	c.(583-585)AAG>AAC	p.K195N		NM_000846	NP_000837	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	195	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GTAGAAACTTCTTCACTGTGG	0.453		NaN											0	0	0	1	0	54	38				
BAI3	577	broad.mit.edu	37	6	69949067	69949067	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:69949067C>T	uc003pev.3	+	20	3211	c.2763C>T	c.(2761-2763)ATC>ATT	p.I921I	BAI3_uc010kak.2_Silent_p.I921I|BAI3_uc011dxx.1_Silent_p.I127I|BAI3_uc003pex.1_Silent_p.I51I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	921	Helical; Name=2; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GCCTGTCTATCATCTCATCCA	0.353		NaN											0	0	0	1	0	37	44				
COL9A1	1297	broad.mit.edu	37	6	70964891	70964891	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:70964891T>G	uc003pfg.3	-	23	1732	c.1573A>C	c.(1573-1575)AGA>CGA	p.R525R	COL9A1_uc003pfe.3_Silent_p.R98R|COL9A1_uc003pff.3_Silent_p.R282R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	525	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						GGAATTCCTCTAGCACCTTCA	0.443		NaN											0	0	0	1	0	37	55				
BEND3	57673	broad.mit.edu	37	6	107391788	107391788	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:107391788G>C	uc003prs.2	-	5	1257	c.607C>G	c.(607-609)CTG>GTG	p.L203V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	203										ovary(3)	3						AGGGTGTTCAGCATGTAGAAC	0.572		NaN											0	0	0	1	0	4	27				
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:109766413C>T	uc003ptj.2	-	21	3122	c.2868G>A	c.(2866-2868)TTG>TTA	p.L956L	MICAL1_uc003ptk.2_Silent_p.L956L|MICAL1_uc010kdr.2_Silent_p.L870L|MICAL1_uc011eaq.1_Silent_p.L975L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	956	Potential.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592		NaN											0	0	0	1	0	16	19				
REV3L	5980	broad.mit.edu	37	6	111697217	111697217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:111697217C>T	uc003puy.3	-	13	2664	c.2341G>A	c.(2341-2343)GAA>AAA	p.E781K	REV3L_uc003pux.3_Missense_Mutation_p.E703K|REV3L_uc003puz.3_Missense_Mutation_p.E703K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	781					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTTTATGTTCTTGAAATTCT	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	23	33				
C6orf225	619208	broad.mit.edu	37	6	112420507	112420507	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112420507C>A	uc003pvs.2	+	3	446	c.21C>A	c.(19-21)ACC>ACA	p.T7T		NM_001033564	NP_001028736	Q4G0N7	CF225_HUMAN	hypothetical protein LOC619208	7											0						AATTTGGAACCCAGCCAAGGA	0.428		NaN											1	0	2.70639e-06	1	2.8172e-06	21	31				
STX7	8417	broad.mit.edu	37	6	132785148	132785148	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132785148C>T	uc003qdg.2	-	9	927	c.677G>A	c.(676-678)AGG>AAG	p.R226K	STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R51K	NM_003569	NP_003560	O15400	STX7_HUMAN	syntaxin 7	226	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity				0	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATCTGCTGCCCTTGACAGCTG	0.393		NaN											0	0	0	1	0	28	35				
TAAR5	9038	broad.mit.edu	37	6	132910508	132910508	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132910508G>C	uc003qdk.2	-	1	370	c.318C>G	c.(316-318)CTC>CTG	p.L106L		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	106	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGGCGGCAGAGGAAGTCCC	0.592		NaN											0	0	0	1	0	30	31				
GRM1	2911	broad.mit.edu	37	6	146350756	146350756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:146350756C>T	uc010khw.1	+	2	573	c.103C>T	c.(103-105)CAG>TAG	p.Q35*	GRM1_uc010khu.1_Nonsense_Mutation_p.Q35*|GRM1_uc010khv.1_Nonsense_Mutation_p.Q35*|GRM1_uc003qll.2_Nonsense_Mutation_p.Q35*|GRM1_uc011edz.1_Nonsense_Mutation_p.Q35*|GRM1_uc011eea.1_Nonsense_Mutation_p.Q35*	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	35	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCGTCGTCTCAGCGCTCGGT	0.582		NaN											0	0	0	1	0	44	81				
SYNE1	23345	broad.mit.edu	37	6	152583209	152583209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152583209C>G	uc010kiw.2	-	101	19532	c.18930G>C	c.(18928-18930)CAG>CAC	p.Q6310H	SYNE1_uc010kiv.2_Missense_Mutation_p.Q834H|SYNE1_uc003qos.3_Missense_Mutation_p.Q834H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6239H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6310H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6310	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAGTAGTTTCTGCTTGGTAC	0.368		NaN								HNSCC(10;0.0054)			0	0	0	1	0	15	28				
SYNE1	23345	broad.mit.edu	37	6	152599392	152599392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152599392C>G	uc010kiw.2	-	98	19007	c.18405G>C	c.(18403-18405)CAG>CAC	p.Q6135H	SYNE1_uc010kiv.2_Missense_Mutation_p.Q659H|SYNE1_uc003qos.3_Missense_Mutation_p.Q659H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6064H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6135H|SYNE1_uc010kiy.1_Missense_Mutation_p.Q314H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6135	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCACCTTCTGCTCTATTT	0.498		NaN								HNSCC(10;0.0054)			0	0	0	1	0	6	95				
TAGAP	117289	broad.mit.edu	37	6	159457377	159457377	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:159457377C>G	uc003qrz.2	-	10	2010	c.1678G>C	c.(1678-1680)GAA>CAA	p.E560Q	TAGAP_uc011eft.1_Missense_Mutation_p.E497Q|TAGAP_uc003qsa.2_Missense_Mutation_p.E382Q	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	560					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTGGGTTTCACACCCATTT	0.607		NaN											0	0	0	1	0	7	38				
RPS6KA2	6196	broad.mit.edu	37	6	166923801	166923801	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:166923801C>T	uc003qvb.1	-	4	562	c.343G>A	c.(343-345)GAA>AAA	p.E115K	RPS6KA2_uc011ego.1_Missense_Mutation_p.E26K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.E26K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E123K|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E140K|MIR1913_hsa-mir-1913|MI0008334_5'Flank	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	115	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGATTCACTTCTGCCAAGATG	0.423		NaN											0	0	0	1	0	16	26				
MEOX2	4223	broad.mit.edu	37	7	15666538	15666538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:15666538G>A	uc003stc.2	-	2	804	c.523C>T	c.(523-525)CAG>TAG	p.Q175*	MEOX2_uc011jxw.1_Nonsense_Mutation_p.Q175*	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	175					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCTTCCTGGGAGTCTGAA	0.363		NaN											0	0	0	1	0	14	60				
HOXA10	3206	broad.mit.edu	37	7	27211618	27211618	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:27211618C>T	uc011jzm.1	-	2	1163	c.1133G>A	c.(1132-1134)AGA>AAA	p.R378K	MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R62K	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	378	Homeobox.				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTTCACTTGTCTGTCCGTGAG	0.483		NaN											0	0	0	1	0	27	84				
ANLN	54443	broad.mit.edu	37	7	36438741	36438741	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:36438741G>A	uc003tff.2	+	3	430	c.226G>A	c.(226-228)GAA>AAA	p.E76K	ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.E76K|ANLN_uc010kxe.2_Missense_Mutation_p.E76K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	76	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TGACAACACTGAAGTAGAAGT	0.373		NaN											0	0	0	1	0	11	31				
AEBP1	165	broad.mit.edu	37	7	44144280	44144280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:44144280G>T	uc003tkb.2	+	1	321	c.16G>T	c.(16-18)GGG>TGG	p.G6W		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	6					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ggccgtgcgcggggcgccccT	0.368		NaN											1	0	0.004672	1	0.00472309	3	4				
ABCA13	154664	broad.mit.edu	37	7	48450206	48450206	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:48450206T>C	uc003toq.2	+	40	12185	c.12160T>C	c.(12160-12162)TGC>CGC	p.C4054R	ABCA13_uc010kys.1_Missense_Mutation_p.C1128R|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4054	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GAGGCTCAGGTGCTGCGGTCC	0.597		NaN											0	0	0	1	0	46	83				
ABCB4	5244	broad.mit.edu	37	7	87060748	87060748	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87060748C>A	uc003uiv.1	-	15	1941	c.1865G>T	c.(1864-1866)GGG>GTG	p.G622V	ABCB4_uc003uiw.1_Missense_Mutation_p.G622V|ABCB4_uc003uix.1_Missense_Mutation_p.G622V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	622	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAAGTACACCCCTTCCTTCTT	0.413		NaN											1	0	3.52763e-06	1	3.66456e-06	18	113				
SLC25A40	55972	broad.mit.edu	37	7	87485664	87485664	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87485664T>A	uc003uje.2	-	4	451	c.100A>T	c.(100-102)ACA>TCA	p.T34S		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	34	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)	1	Esophageal squamous(14;0.00202)					TCCAGGGGTGTCACTATGAAG	0.343		NaN											0	0	0	1	0	23	155				
ADAM22	53616	broad.mit.edu	37	7	87743932	87743932	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87743932C>G	uc003ujn.2	+	6	586	c.507C>G	c.(505-507)CTC>CTG	p.L169L	ADAM22_uc003uji.1_Silent_p.L168L|ADAM22_uc003ujj.1_Silent_p.L169L|ADAM22_uc003ujk.1_Silent_p.L169L|ADAM22_uc003ujl.1_Silent_p.L169L|ADAM22_uc003ujm.2_Silent_p.L169L|ADAM22_uc003ujo.2_Silent_p.L169L|ADAM22_uc003ujp.1_Silent_p.L221L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	169					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACACATATCTCATTGAGCCAG	0.398		NaN											0	0	0	1	0	11	59				
HEPACAM2	253012	broad.mit.edu	37	7	92848468	92848468	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:92848468T>A	uc003umm.2	-	2	399	c.376A>T	c.(376-378)ATT>TTT	p.I126F	HEPACAM2_uc003uml.2_Missense_Mutation_p.I114F|HEPACAM2_uc010lff.2_Missense_Mutation_p.I114F|HEPACAM2_uc011khy.1_Missense_Mutation_p.I149F	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	126	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						TTTCCCTGAATGTTGACCTTC	0.443		NaN											0	0	0	1	0	23	72				
PEG10	23089	broad.mit.edu	37	7	94293033	94293033	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:94293033G>A	uc011kie.1	+	2	610	c.393G>A	c.(391-393)GAG>GAA	p.E131E		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	55					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGAGGATGAGGATGATGACA	0.587		NaN											0	0	0	1	0	3	20				
C7orf43	55262	broad.mit.edu	37	7	99755004	99755004	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:99755004A>T	uc003utr.2	-	4	896	c.716T>A	c.(715-717)GTG>GAG	p.V239E	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'UTR|C7orf43_uc003uts.2_5'UTR	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	239											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCTTGAGCACGGTCAAGTG	0.632		NaN									OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	5	41				
AP1S1	1174	broad.mit.edu	37	7	100802372	100802372	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100802372G>A	uc003uxv.3	+	4	434	c.324G>A	c.(322-324)GAG>GAA	p.E108E		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	108					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					TCAACTTTGAGAAGGCCTACT	0.552		NaN											0	0	0	1	0	6	45				
VGF	7425	broad.mit.edu	37	7	100808035	100808035	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100808035C>T	uc003uxx.3	-	2	308	c.90G>A	c.(88-90)GCG>GCA	p.A30A		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	30					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGGAGGCTGCGCCTCAGGGC	0.652		NaN											0	0	0	1	0	4	21				
PSMC2	5701	broad.mit.edu	37	7	102996214	102996214	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:102996214G>C	uc003vbs.2	+	4	334	c.264G>C	c.(262-264)CAG>CAC	p.Q88H	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.Q88H|PSMC2_uc011klo.1_Intron	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	88					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						AGACACTCCAGAGTGAACAGC	0.453		NaN											0	0	0	1	0	31	22				
MLL5	55904	broad.mit.edu	37	7	104748167	104748167	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:104748167C>T	uc003vcm.2	+	22	3797	c.3263C>T	c.(3262-3264)ACA>ATA	p.T1088I	MLL5_uc010ljc.2_Missense_Mutation_p.T1088I|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1088					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AGGGACCTGACACCCTCGCAT	0.493		NaN											0	0	0	1	0	4	42				
LAMB1	3912	broad.mit.edu	37	7	107564523	107564523	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107564523C>G	uc003vew.2	-	34	5569	c.5234G>C	c.(5233-5235)AGA>ACA	p.R1745T	LAMB1_uc003vev.2_Missense_Mutation_p.R1769T|LAMB1_uc003veu.2_Missense_Mutation_p.R228T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1745	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCATATTTTCTTTCTAAATC	0.303		NaN											0	0	0	1	0	29	17				
LAMB1	3912	broad.mit.edu	37	7	107566684	107566684	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107566684C>G	uc003vew.2	-	32	5343	c.5008G>C	c.(5008-5010)GAA>CAA	p.E1670Q	LAMB1_uc003vev.2_Missense_Mutation_p.E1694Q|LAMB1_uc003veu.2_Missense_Mutation_p.E153Q	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1670	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAATATATTCTGCCTCCCCG	0.423		NaN											0	0	0	1	0	15	81				
NRCAM	4897	broad.mit.edu	37	7	107849877	107849877	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107849877C>G	uc003vfb.2	-	12	1534	c.1063G>C	c.(1063-1065)GTT>CTT	p.V355L	NRCAM_uc003vfc.2_Missense_Mutation_p.V349L|NRCAM_uc011kmk.1_Missense_Mutation_p.V350L|NRCAM_uc003vfd.2_Missense_Mutation_p.V331L|NRCAM_uc003vfe.2_Missense_Mutation_p.V331L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	355	Ig-like 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TTAACTCTAACAGAAATGGTA	0.338		NaN											0	0	0	1	0	47	61				
FOXP2	93986	broad.mit.edu	37	7	114299708	114299708	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:114299708C>T	uc003vhb.2	+	13	2001	c.1627C>T	c.(1627-1629)CGT>TGT	p.R543C	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R568C|FOXP2_uc003vha.2_Missense_Mutation_p.R451C|FOXP2_uc011kmu.1_Missense_Mutation_p.R560C|FOXP2_uc011kmv.1_Missense_Mutation_p.R542C|FOXP2_uc010ljz.1_Missense_Mutation_p.R358C|FOXP2_uc003vhe.1_Missense_Mutation_p.R113C	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	543	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TTACTTCAGGCGTAATGCAGC	0.318		NaN											0	0	0	1	0	17	91				
CFTR	1080	broad.mit.edu	37	7	117232152	117232152	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:117232152T>C	uc003vjd.2	+	14	2063	c.1931T>C	c.(1930-1932)CTC>CCC	p.L644P	CFTR_uc011knq.1_Missense_Mutation_p.L50P	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	644	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGCTCAAAACTCATGGGATGT	0.373		NaN							Cystic_Fibrosis				0	0	0	1	0	23	86				
AASS	10157	broad.mit.edu	37	7	121773712	121773712	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:121773712T>A	uc003vka.2	-	1	165	c.69A>T	c.(67-69)AAA>AAT	p.K23N	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.K23N|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	23					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAACACAGCTTTGTGGTGAA	0.557		NaN											0	0	0	1	0	107	72				
RNF148	378925	broad.mit.edu	37	7	122342732	122342732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122342732G>C	uc003vkk.1	-	1	290	c.73C>G	c.(73-75)CTA>GTA	p.L25V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.L25V	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	25						integral to membrane	zinc ion binding				0						CTAAGTAGTAGAAAGATACTA	0.403		NaN											0	0	0	1	0	5	27				
SLC13A1	6561	broad.mit.edu	37	7	122839945	122839945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122839945G>A	uc003vkm.2	-	1	81	c.56C>T	c.(55-57)ACT>ATT	p.T19I	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	19	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	AACCAACACAGTGAAAACCAC	0.433		NaN											0	0	0	1	0	25	21				
IQUB	154865	broad.mit.edu	37	7	123152297	123152297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123152297G>C	uc003vkn.2	-	2	675	c.98C>G	c.(97-99)TCA>TGA	p.S33*	IQUB_uc003vko.2_Nonsense_Mutation_p.S33*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.S33*|IQUB_uc003vkq.2_Nonsense_Mutation_p.S33*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	33										ovary(3)|large_intestine(1)	4						AGGCTCTTCTGAGGGAACTGG	0.398		NaN											0	0	0	1	0	20	133				
SPAM1	6677	broad.mit.edu	37	7	123594167	123594167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123594167C>G	uc003vld.2	+	4	945	c.543C>G	c.(541-543)CTC>CTG	p.L181L	SPAM1_uc003vle.2_Silent_p.L181L|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.L181L|SPAM1_uc010lku.2_Silent_p.L181L	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	181					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AACTTAGTCTCACAGAGGCCA	0.388		NaN											0	0	0	1	0	22	71				
ZNF800	168850	broad.mit.edu	37	7	127014383	127014383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:127014383G>A	uc003vlx.1	-	5	1270	c.1007C>T	c.(1006-1008)TCT>TTT	p.S336F	ZNF800_uc003vlw.1_Missense_Mutation_p.S239F|ZNF800_uc003vly.1_Missense_Mutation_p.S336F|ZNF800_uc010lla.2_Missense_Mutation_p.S336F	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTTTAGGAGAAATAGAATC	0.373		NaN											0	0	0	1	0	35	59				
CALU	813	broad.mit.edu	37	7	128407602	128407602	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:128407602G>A	uc003vns.2	+	6	888	c.736G>A	c.(736-738)GAT>AAT	p.D246N	CALU_uc003vnq.2_Missense_Mutation_p.D246N|CALU_uc003vnr.2_Missense_Mutation_p.D246N	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	246	EF-hand 5.|5 (Potential).				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0						TAAGAACCGTGATGGGAAGAT	0.493		NaN											0	0	0	1	0	18	88				
NUP205	23165	broad.mit.edu	37	7	135303333	135303333	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:135303333A>C	uc003vsw.2	+	28	3976	c.3945A>C	c.(3943-3945)TTA>TTC	p.L1315F	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1315					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTGATATTTTACAAGATGTGC	0.378		NaN											0	0	0	1	0	29	141				
DGKI	9162	broad.mit.edu	37	7	137271945	137271945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:137271945G>C	uc003vtt.2	-	13	1324	c.1323C>G	c.(1321-1323)ATC>ATG	p.I441M	DGKI_uc003vtu.2_Missense_Mutation_p.I141M	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	441	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						GGATGGAAAGGATCCAGCCCA	0.517		NaN											0	0	0	1	0	35	27				
KIAA1549	57670	broad.mit.edu	37	7	138588413	138588413	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:138588413G>A	uc011kql.1	-	8	3639	c.3590C>T	c.(3589-3591)GCC>GTC	p.A1197V	KIAA1549_uc003vuk.3_Missense_Mutation_p.A1147V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1197V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1197						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GAGCAGCTGGGCCAGCTTGCG	0.532		NaN	O	BRAF	pilocytic astrocytoma								0	0	0	1	0	6	21				
TBXAS1	6916	broad.mit.edu	37	7	139715540	139715540	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:139715540C>G	uc011kqv.1	+	12	1549	c.1385C>G	c.(1384-1386)GCT>GGT	p.A462G	TBXAS1_uc003vvh.2_Missense_Mutation_p.A416G|TBXAS1_uc010lne.2_Missense_Mutation_p.A348G|TBXAS1_uc011kqu.1_Missense_Mutation_p.A367G|TBXAS1_uc003vvi.2_Missense_Mutation_p.A416G|TBXAS1_uc003vvj.2_Missense_Mutation_p.A416G|TBXAS1_uc011kqw.1_Missense_Mutation_p.A396G	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	415	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					CGGGAGGCAGCTCAGGACTGC	0.647		NaN											0	0	0	1	0	13	85				
PRSS1	5644	broad.mit.edu	37	7	142459637	142459637	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142459637G>A	uc003wak.2	+	3	230	c.213G>A	c.(211-213)GTG>GTA	p.V71V	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V11V	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	71	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCATCCAGGTGAGACTGGGAG	0.577		NaN							Hereditary_Pancreatitis				0	0	0	1	0	12	198				
TAS2R40	259286	broad.mit.edu	37	7	142919411	142919411	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142919411C>A	uc011ksx.1	+	1	240	c.240C>A	c.(238-240)TTC>TTA	p.F80L		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	80	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					AGAACATTTTCAGTCTGCTAT	0.448		NaN											1	0	2.48779e-11	1	2.68302e-11	27	83				
OR2A14	135941	broad.mit.edu	37	7	143826871	143826871	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:143826871C>T	uc011kua.1	+	1	666	c.666C>T	c.(664-666)GCC>GCT	p.A222A		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					GCATCCTGGCCGCCATCTTGA	0.612		NaN											0	0	0	1	0	114	124				
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148463737G>A	uc010lpg.2	+	8	1400	c.874G>A	c.(874-876)GAA>AAA	p.E292K	CUL1_uc003wey.2_Missense_Mutation_p.E292K|CUL1_uc003wez.2_Missense_Mutation_p.E182K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378		NaN											0	0	0	1	0	14	54				
PDIA4	9601	broad.mit.edu	37	7	148702271	148702271	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148702271G>C	uc003wff.2	-	9	1766	c.1484C>G	c.(1483-1485)TCT>TGT	p.S495C		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	495					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GAGGGTGTCAGAGTCAAACTC	0.597		NaN											0	0	0	1	0	8	155				
ABCB8	11194	broad.mit.edu	37	7	150737621	150737621	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737621G>C	uc003wil.3	+	12	1432	c.1339G>C	c.(1339-1341)GAG>CAG	p.E447Q	ABCB8_uc010lpw.1_Missense_Mutation_p.E319Q|ABCB8_uc010lpx.2_Missense_Mutation_p.E430Q|ABCB8_uc011kvd.1_Missense_Mutation_p.E342Q|ABCB8_uc003wim.3_Missense_Mutation_p.E225Q|ABCB8_uc003wik.3_Missense_Mutation_p.E430Q	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	447						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGTCTTTGAGTACATGGC	0.622		NaN											0	0	0	1	0	33	46				
ABCB8	11194	broad.mit.edu	37	7	150737667	150737667	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737667G>T	uc003wil.3	+	12	1478	c.1385G>T	c.(1384-1386)TGC>TTC	p.C462F	ABCB8_uc010lpw.1_Missense_Mutation_p.C334F|ABCB8_uc010lpx.2_Missense_Mutation_p.C445F|ABCB8_uc011kvd.1_Missense_Mutation_p.C357F|ABCB8_uc003wim.3_Missense_Mutation_p.C240F|ABCB8_uc003wik.3_Missense_Mutation_p.C445F	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	462						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGGCTGCTGCGTCCCCAAA	0.647		NaN											1	0	1.42033e-22	1	1.59083e-22	34	48				
MLL3	58508	broad.mit.edu	37	7	151962147	151962147	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:151962147T>A	uc003wla.2	-	8	1379	c.1160A>T	c.(1159-1161)GAG>GTG	p.E387V		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	387	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACTTTGCACTCAGGACATTG	0.413		NaN	N		medulloblastoma								0	0	0	1	0	22	241		Valid		
RBM33	155435	broad.mit.edu	37	7	155534734	155534734	+	Silent	SNP	G	G	A	rs113181766		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:155534734G>A	uc010lqk.1	+	13	2639	c.2271G>A	c.(2269-2271)ACG>ACA	p.T757T	RBM33_uc011kvv.1_Silent_p.T566T	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	757							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGGGAAAGACGGAAGTGAAAG	0.547		NaN											0	0	0	1	0	9	41				
CSMD1	64478	broad.mit.edu	37	8	3009031	3009031	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:3009031G>T	uc011kwk.1	-	40	6312	c.5922C>A	c.(5920-5922)ACC>ACA	p.T1974T	CSMD1_uc011kwj.1_Silent_p.T1366T|CSMD1_uc003wqe.2_Silent_p.T1130T|CSMD1_uc010lrg.2_Silent_p.T42T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1974	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCTCCACAGGTTGCTGTTA	0.527		NaN											1	0	0.00909568	1	0.00914966	3	2				
PNOC	5368	broad.mit.edu	37	8	28196682	28196682	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:28196682C>A	uc010lva.2	+	3	460	c.252C>A	c.(250-252)CTC>CTA	p.L84L	PNOC_uc003xgp.2_Silent_p.L84L|PNOC_uc011lau.1_Silent_p.L20L	NM_006228	NP_006219	Q13519	PNOC_HUMAN	prepronociceptin precursor	84					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)	1		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGCTGCTCTCTACCAGCCGA	0.652		NaN											1	0	7.45023e-12	1	8.06909e-12	20	4				
KCNU1	157855	broad.mit.edu	37	8	36697995	36697995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:36697995G>C	uc010lvw.2	+	15	1620	c.1533G>C	c.(1531-1533)CAG>CAC	p.Q511H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	511	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTAAACAGACCTGGAAGA	0.403		NaN											0	0	0	1	0	5	34				
UBE2V2	7336	broad.mit.edu	37	8	48973350	48973350	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:48973350C>G	uc003xqm.2	+	4	421	c.400C>G	c.(400-402)CTT>GTT	p.L134V		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2v2	134					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding				0		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAATATGAAGCTTCCACAGCC	0.353		NaN						Direct_reversal_of_damage|Rad6_pathway					0	0	0	1	0	13	79				
CHD7	55636	broad.mit.edu	37	8	61654316	61654316	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:61654316C>A	uc003xue.2	+	2	802	c.325C>A	c.(325-327)CCC>ACC	p.P109T		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	109					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCACACCCCTCCCGTTCCTCA	0.567		NaN											1	0	2.32078e-09	1	2.46887e-09	16	20		Valid		
DNAJC5B	85479	broad.mit.edu	37	8	66963882	66963882	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:66963882G>C	uc003xvs.1	+	3	391	c.100G>C	c.(100-102)GAA>CAA	p.E34Q	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	34	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ATCAAATGAAGAAATTAAGAA	0.393		NaN											0	0	0	1	0	13	99				
CPA6	57094	broad.mit.edu	37	8	68536432	68536432	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:68536432C>T	uc003xxq.3	-	2	427	c.171G>A	c.(169-171)AAG>AAA	p.K57K	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.K57K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	57					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGATATTTTCTTCAGTGCAT	0.318		NaN											0	0	0	1	0	37	15				
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:70650368C>A	uc003xyl.2	-	5	2037	c.1330G>T	c.(1330-1332)GAG>TAG	p.E444*	SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Nonsense_Mutation_p.E444*|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	444	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423		NaN											1	0	2.48254e-18	1	2.75928e-18	51	35				
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71520314C>G	uc003xyo.1	-	1	291	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	TRAM1_uc011lfc.1_Missense_Mutation_p.E10Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41	Helical; (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692		NaN											0	0	0	1	0	19	4				
LACTB2	51110	broad.mit.edu	37	8	71550853	71550853	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71550853C>G	uc011lfd.1	-	6	845	c.753G>C	c.(751-753)GAG>GAC	p.E251D	LACTB2_uc003xyp.2_Missense_Mutation_p.E251D	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	251							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CATGTAAATTCTCAGGAGTAT	0.244		NaN											0	0	0	1	0	34	18				
PI15	51050	broad.mit.edu	37	8	75737667	75737667	+	Silent	SNP	C	C	T	rs147092656	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:75737667C>T	uc003yal.2	+	2	362	c.183C>T	c.(181-183)TAC>TAT	p.Y61Y	uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.Y61Y	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	61						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGAAGCGCTACATTTCGCAGA	0.443		NaN											0	0	0	1	0	49	42				
RALYL	138046	broad.mit.edu	37	8	85441685	85441685	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:85441685A>G	uc003ycq.3	+	3	545	c.129A>G	c.(127-129)TCA>TCG	p.S43S	RALYL_uc003ycr.3_Silent_p.S43S|RALYL_uc003ycs.3_Silent_p.S43S|RALYL_uc010lzy.2_Silent_p.S43S|RALYL_uc003yct.3_Silent_p.S56S	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	43	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						CCATTTTTTCAAAGTATGGAA	0.408		NaN											0	0	0	1	0	16	17				
PSKH2	85481	broad.mit.edu	37	8	87076268	87076268	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:87076268G>A	uc011lfy.1	-	2	778	c.778C>T	c.(778-780)CTG>TTG	p.L260L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	260	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			TCAAAAGGCAGGAATCCGCTA	0.403		NaN											0	0	0	1	0	37	41				
POP1	10940	broad.mit.edu	37	8	99142401	99142401	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:99142401G>C	uc003yij.3	+	5	782	c.682G>C	c.(682-684)GTC>CTC	p.V228L	POP1_uc011lgv.1_Missense_Mutation_p.V228L|POP1_uc003yik.2_Missense_Mutation_p.V228L	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	228					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGGCCAACAGTCAAGAGCCA	0.483		NaN											0	0	0	1	0	31	95				
VPS13B	157680	broad.mit.edu	37	8	100844696	100844696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100844696G>C	uc003yiv.2	+	52	9616	c.9505G>C	c.(9505-9507)GAC>CAC	p.D3169H	VPS13B_uc003yiw.2_Missense_Mutation_p.D3144H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3169					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGATGCCTGACATCAGTCA	0.522		NaN											0	0	0	1	0	16	30				
VPS13B	157680	broad.mit.edu	37	8	100866115	100866115	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100866115G>A	uc003yiv.2	+	56	10684	c.10573G>A	c.(10573-10575)GAA>AAA	p.E3525K	VPS13B_uc003yiw.2_Missense_Mutation_p.E3500K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3525					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCTTTGAATTAAAACC	0.383		NaN											0	0	0	1	0	41	178				
SPAG1	6674	broad.mit.edu	37	8	101253173	101253173	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101253173G>C	uc003yjh.1	+	19	2790	c.2704G>C	c.(2704-2706)GAG>CAG	p.E902Q	SPAG1_uc003yji.1_Missense_Mutation_p.E902Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	902					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACAGCTGTTTGAGGACCTTTC	0.333		NaN											0	0	0	1	0	10	112				
UBR5	51366	broad.mit.edu	37	8	103298599	103298599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:103298599G>C	uc003ykr.1	-	38	5237	c.5204C>G	c.(5203-5205)TCT>TGT	p.S1735C	UBR5_uc003yks.1_Missense_Mutation_p.S1735C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1735					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTGGTGTAGATGTACTGGA	0.453		NaN											0	0	0	1	0	5	61				
FZD6	8323	broad.mit.edu	37	8	104337017	104337017	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104337017G>A	uc003ylh.2	+	4	967	c.683G>A	c.(682-684)AGA>AAA	p.R228K	FZD6_uc003yli.2_Missense_Mutation_p.R228K|FZD6_uc003ylj.2_Missense_Mutation_p.R228K|FZD6_uc011lhn.1_Missense_Mutation_p.R194K|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R173K	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	228	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGAAGATTCAGATACCCAGAG	0.338		NaN											0	0	0	1	0	26	57				
RIMS2	9699	broad.mit.edu	37	8	104955043	104955043	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104955043C>T	uc003yls.2	+	12	2165	c.1924C>T	c.(1924-1926)CAT>TAT	p.H642Y	RIMS2_uc003ylp.2_Missense_Mutation_p.H864Y|RIMS2_uc003ylw.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylq.2_Missense_Mutation_p.H656Y|RIMS2_uc003ylr.2_Missense_Mutation_p.H703Y|RIMS2_uc003ylt.2_Missense_Mutation_p.H249Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	926					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGAGCCACATTGGTACAA	0.393		NaN								HNSCC(12;0.0054)			0	0	0	1	0	11	62				
ZFPM2	23414	broad.mit.edu	37	8	106815184	106815184	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:106815184C>G	uc003ymd.2	+	8	2897	c.2874C>G	c.(2872-2874)AAC>AAG	p.N958K	ZFPM2_uc011lhs.1_Missense_Mutation_p.N689K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	958					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGAAGAAAACAGACATTTGT	0.428		NaN											0	0	0	1	0	7	30				
TAF2	6873	broad.mit.edu	37	8	120768248	120768248	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:120768248G>A	uc003you.2	-	22	3146	c.2876C>T	c.(2875-2877)TCT>TTT	p.S959F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	959					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTCTCACCAGAATTCATAAG	0.323		NaN											0	0	0	1	0	29	75				
WDR67	93594	broad.mit.edu	37	8	124109655	124109655	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124109655G>C	uc003ypp.1	+	6	895	c.805G>C	c.(805-807)GAT>CAT	p.D269H	WDR67_uc011lig.1_Missense_Mutation_p.D269H|WDR67_uc011lih.1_Missense_Mutation_p.D159H|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.D269H|WDR67_uc003ypr.2_RNA	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	269						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTCTTCCTGATAGTTTTGA	0.398		NaN											0	0	0	1	0	5	72				
C8orf76	84933	broad.mit.edu	37	8	124243745	124243745	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124243745A>C	uc003yqc.1	-	4	641	c.610T>G	c.(610-612)TTC>GTC	p.F204V	C8orf76_uc003yqd.2_Missense_Mutation_p.F172V	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	204							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGGAAAGAAGGATTTGATA	0.448		NaN											0	0	0	1	0	75	97				
ZHX1	11244	broad.mit.edu	37	8	124267094	124267094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124267094G>C	uc003yqe.2	-	3	1523	c.1093C>G	c.(1093-1095)CAG>GAG	p.Q365E	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q365E|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q365E	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	365	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTATGGTCTGAGGTACAGTA	0.433		NaN											0	0	0	1	0	38	241				
WDYHV1	55093	broad.mit.edu	37	8	124453558	124453558	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124453558A>G	uc003yqn.1	+	6	646	c.521A>G	c.(520-522)AAC>AGC	p.N174S	WDYHV1_uc011lij.1_Missense_Mutation_p.N114S|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	174					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						TCCAAAATGAACCTGAACGAT	0.368		NaN											0	0	0	1	0	120	47				
RNF139	11236	broad.mit.edu	37	8	125487416	125487416	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125487416C>G	uc003yrc.2	+	1	409	c.66C>G	c.(64-66)CTC>CTG	p.L22L	uc003yrb.2_5'Flank	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	22					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGCGGCGCTCGAAGTGGCGC	0.632		NaN							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				0	0	0	1	0	8	71				
RNF139	11236	broad.mit.edu	37	8	125499414	125499414	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125499414C>G	uc003yrc.2	+	2	1867	c.1524C>G	c.(1522-1524)ATC>ATG	p.I508M		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	508	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTAACATCTACTTACAAG	0.378		NaN							Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				0	0	0	1	0	20	151				
ASAP1	50807	broad.mit.edu	37	8	131140337	131140337	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:131140337C>T	uc003yta.1	-	15	1246	c.1218_splice	c.e15-1	p.A406_splice	ASAP1_uc003ysz.1_Splice_Site_p.A217_splice|ASAP1_uc011liw.1_Splice_Site_p.A399_splice	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor						cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TGATATCCATCTGTTGGTAAA	0.363		NaN											0	0	0	1	0	25	37				
TG	7038	broad.mit.edu	37	8	133879281	133879281	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:133879281C>T	uc003ytw.2	+	1	77	c.36C>T	c.(34-36)GCC>GCT	p.A12A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	12					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTGCTGGCCTCCATCTGCT	0.547		NaN											0	0	0	1	0	3	8				
SLA	6503	broad.mit.edu	37	8	134057253	134057253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134057253C>G	uc003ytz.2	-	7	1292	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.E171Q|SLA_uc011ljf.1_Missense_Mutation_p.E46Q|SLA_uc011ljg.1_Intron|SLA_uc011ljd.1_Missense_Mutation_p.E194Q	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	154	SH2.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCAGGTCCTCCAGGCACTGG	0.517		NaN											0	0	0	1	0	8	92				
TG	7038	broad.mit.edu	37	8	134108561	134108561	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134108561C>T	uc003ytw.2	+	43	7557	c.7516C>T	c.(7516-7518)CTG>TTG	p.L2506L	TG_uc010mdw.2_Silent_p.L1265L|TG_uc011ljb.1_Silent_p.L875L|TG_uc011ljc.1_Silent_p.L639L|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2506					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGGTCGATCTGCTCATTGG	0.577		NaN											0	0	0	1	0	26	237				
TRAPPC9	83696	broad.mit.edu	37	8	140744407	140744407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:140744407C>T	uc003yvj.2	-	22	3228	c.3094G>A	c.(3094-3096)GTG>ATG	p.V1032M	TRAPPC9_uc003yvh.2_Missense_Mutation_p.V1130M	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	1032					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CAGGCCGCCACAGCCTCGCGG	0.716		NaN											0	0	0	1	0	11	17				
CHRAC1	54108	broad.mit.edu	37	8	141525224	141525224	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:141525224G>C	uc003yvl.2	+	3	473	c.275_splice	c.e3-1	p.D92_splice	CHRAC1_uc010mem.1_Splice_Site	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1						chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(1)	1	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGTTTTTAAGATATATTACC	0.333		NaN											0	0	0	1	0	14	204				
FAM83H	286077	broad.mit.edu	37	8	144810771	144810771	+	Missense_Mutation	SNP	G	G	A	rs137854442		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144810771G>A	uc003yzk.2	-	5	929	c.860C>T	c.(859-861)TCG>TTG	p.S287L	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	287					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCCGCGGCCGAGGGCACAAG	0.711		NaN											0	0	0	1	0	6	12				
FAM83H	286077	broad.mit.edu	37	8	144812730	144812730	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144812730G>A	uc003yzk.2	-	2	92	c.23C>T	c.(22-24)TCC>TTC	p.S8F	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	8					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCCTGCGAGGAGCTCTGAGA	0.677		NaN											0	0	0	1	0	8	24				
EPPK1	83481	broad.mit.edu	37	8	144942543	144942543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144942543C>T	uc003zaa.1	-	1	4892	c.4879G>A	c.(4879-4881)GAG>AAG	p.E1627K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1627	Plectin 27.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGAACGCCTCCTCCACGGTC	0.637		NaN											0	0	0	1	0	22	65				
PARP10	84875	broad.mit.edu	37	8	145059158	145059158	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145059158C>G	uc003zal.3	-	5	1120	c.1012G>C	c.(1012-1014)GGT>CGT	p.G338R	PARP10_uc003zak.3_Missense_Mutation_p.G44R|PARP10_uc011lku.1_Missense_Mutation_p.G350R|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.G338R|PARP10_uc010mfn.1_Missense_Mutation_p.G253R|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	338						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCATGGGACCTGTCCTCAGA	0.612		NaN											0	0	0	1	0	65	68				
GPAA1	8733	broad.mit.edu	37	8	145140309	145140309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140309G>T	uc003zax.2	+	10	1488	c.1378G>T	c.(1378-1380)GAG>TAG	p.E460*		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	460	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGTGGCAGAGGCTGAGGC	0.632		NaN											1	0	0.00909568	1	0.00914966	4	35				
GPAA1	8733	broad.mit.edu	37	8	145140621	145140621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140621G>T	uc003zax.2	+	11	1707	c.1597G>T	c.(1597-1599)GCG>TCG	p.A533S		NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	533	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACTGCTGCGCTTGCCAA	0.612		NaN											1	0	2.80697e-09	1	2.97985e-09	10	122				
ZNF7	7553	broad.mit.edu	37	8	146067042	146067042	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:146067042C>G	uc003zeg.3	+	5	687	c.550C>G	c.(550-552)CTT>GTT	p.L184V	ZNF7_uc010mge.2_Missense_Mutation_p.L195V|ZNF7_uc011lln.1_Missense_Mutation_p.L88V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.L88V|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TTGTCAGCCTCTTGAAAGTCA	0.537		NaN											0	0	0	1	0	13	85				
MLANA	2315	broad.mit.edu	37	9	5908664	5908664	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5908664G>C	uc003zjo.1	+	5	366	c.313G>C	c.(313-315)GAG>CAG	p.E105Q		NM_005511	NP_005502	Q16655	MAR1_HUMAN	melan-A	105	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		ACCTGCTTATGAGAAACTCTC	0.433		NaN											0	0	0	1	0	26	28				
KIAA2026	158358	broad.mit.edu	37	9	5954074	5954074	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5954074T>G	uc003zjq.3	-	4	2450	c.2234A>C	c.(2233-2235)AAA>ACA	p.K745T	KIAA2026_uc010mht.2_5'UTR	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	745	Lys-rich.									ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGATTGCTTTTTTAGAGAC	0.308		NaN											0	0	0	1	0	2	1				
PSIP1	11168	broad.mit.edu	37	9	15490123	15490123	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:15490123C>A	uc003zlv.3	-	4	480	c.150_splice	c.e4-1	p.T50_splice	PSIP1_uc003zlw.3_Splice_Site_p.T50_splice|PSIP1_uc003zlz.3_Splice_Site_p.T50_splice|PSIP1_uc003zma.3_Splice_Site_p.T50_splice|PSIP1_uc003zly.2_Splice_Site_p.T50_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAAAAAGCACTAAAAAAGAA	0.313		NaN											1	0	1.15088e-07	1	1.21289e-07	14	1				
CDKN2A	1029	broad.mit.edu	37	9	21974736	21974736	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:21974736G>C	uc003zpk.2	-	1	303	c.91C>G	c.(91-93)CTG>GTG	p.L31V	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.L31V|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	31	ANK 1.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28_V51del(1)|p.R29fs*9(1)|p.L31P(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCAGCAGCGCCCGCACC	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	1	0	10	19		Valid		
TAF1L	138474	broad.mit.edu	37	9	32630951	32630951	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:32630951C>G	uc003zrg.1	-	1	4717	c.4627G>C	c.(4627-4629)GAT>CAT	p.D1543H	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1543	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCAAGAATCTGGAACTGCC	0.388		NaN											0	0	0	1	0	8	49				
PRSS3	5646	broad.mit.edu	37	9	33797839	33797839	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:33797839G>A	uc003ztj.3	+	3	384	c.384G>A	c.(382-384)GTG>GTA	p.V128V	uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.V85V|PRSS3_uc003ztl.3_Silent_p.V71V	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	128	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCATCCAGGTGAGACTGGGAG	0.587		NaN											0	0	0	1	0	4	48				
TLN1	7094	broad.mit.edu	37	9	35698825	35698825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:35698825C>G	uc003zxt.2	-	53	7459	c.7105G>C	c.(7105-7107)GAA>CAA	p.E2369Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2369	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTAGTTCTCTCTGGGCA	0.522		NaN											0	0	0	1	0	15	30				
SMC5	23137	broad.mit.edu	37	9	72892386	72892386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:72892386C>T	uc004ahr.2	+	4	658	c.541C>T	c.(541-543)CAG>TAG	p.Q181*		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	181					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						GTTTCTCCCTCAGGTATGAGA	0.338		NaN											0	0	0	1	0	16	19				
FAM108B1	51104	broad.mit.edu	37	9	74489886	74489886	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:74489886C>T	uc004aim.1	-	2	713	c.111G>A	c.(109-111)CTG>CTA	p.L37L	FAM108B1_uc004ail.2_Silent_p.L37L	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	37						extracellular region	hydrolase activity				0						CATCACACATCAGTGTGTAAG	0.428		NaN											0	0	0	1	0	7	74				
ROR2	4920	broad.mit.edu	37	9	94487117	94487117	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:94487117G>A	uc004arj.1	-	9	1858	c.1659C>T	c.(1657-1659)TTC>TTT	p.F553F	ROR2_uc004ari.1_Silent_p.F413F	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	553	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						AACAGTAGCTGAAGATCATGC	0.637		NaN											0	0	0	1	0	31	4				
TEX10	54881	broad.mit.edu	37	9	103090142	103090142	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:103090142G>T	uc004bas.2	-	8	1943	c.1728C>A	c.(1726-1728)ATC>ATA	p.I576I	TEX10_uc011lvf.1_Silent_p.I415I|TEX10_uc011lvg.1_Silent_p.I579I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	576						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CGGTATGAATGATATCGATAA	0.418		NaN											1	0	3.01185e-09	1	3.194e-09	26	8				
OR13C3	138803	broad.mit.edu	37	9	107298330	107298330	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298330G>C	uc004bcb.1	-	1	765	c.765C>G	c.(763-765)ATC>ATG	p.I255M		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	255	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						TCATTTGCAAGATGGTGTAGA	0.413		NaN											0	0	0	1	0	57	9				
OR13C3	138803	broad.mit.edu	37	9	107298688	107298688	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298688G>A	uc004bcb.1	-	1	407	c.407C>T	c.(406-408)GCA>GTA	p.A136V		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	136	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						TGACCCCATTGCAAACCCAAA	0.453		NaN											0	0	0	1	0	53	87				
C9orf152	401546	broad.mit.edu	37	9	112963584	112963584	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:112963584C>G	uc011lwk.1	-	2	918	c.364G>C	c.(364-366)GAG>CAG	p.E122Q		NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	hypothetical protein LOC401546	122											0						CAATGCATCTCCAGGTGCGTG	0.587		NaN											0	0	0	1	0	48	47				
C9orf84	158401	broad.mit.edu	37	9	114510461	114510461	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:114510461C>T	uc004bfr.2	-	7	824	c.689G>A	c.(688-690)GGA>GAA	p.G230E	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.G294E|C9orf84_uc004bfq.2_Missense_Mutation_p.G191E|C9orf84_uc010mug.2_Missense_Mutation_p.G176E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	230										ovary(2)	2						ATCCTCAATTCCATGCTTGTT	0.353		NaN											0	0	0	1	0	19	36				
ODF2	4957	broad.mit.edu	37	9	131256844	131256844	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131256844T>A	uc011mbd.1	+	17	2119	c.1808T>A	c.(1807-1809)CTG>CAG	p.L603Q	ODF2_uc011maz.1_Missense_Mutation_p.L603Q|ODF2_uc011mbc.1_Missense_Mutation_p.L522Q|ODF2_uc004bva.2_Missense_Mutation_p.L556Q|ODF2_uc004bvb.2_Missense_Mutation_p.L579Q|ODF2_uc011mbe.1_Missense_Mutation_p.L598Q|ODF2_uc004bvc.2_Missense_Mutation_p.L579Q|ODF2_uc011mbf.1_Missense_Mutation_p.L584Q|ODF2_uc004bvd.3_Missense_Mutation_p.L603Q|ODF2_uc004bve.2_Missense_Mutation_p.L584Q|ODF2_uc004bvh.2_5'Flank	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	603	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CCTGACATCCTGAAGATCACG	0.562		NaN											0	0	0	1	0	10	21				
SPTAN1	6709	broad.mit.edu	37	9	131341958	131341958	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131341958G>A	uc004bvl.3	+	10	1377	c.1264G>A	c.(1264-1266)GAA>AAA	p.E422K	SPTAN1_uc011mbg.1_Missense_Mutation_p.E422K|SPTAN1_uc011mbh.1_Missense_Mutation_p.E434K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E422K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E422K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	422	Spectrin 5.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATCTGCAGATGAATCTGGACA	0.428		NaN											0	0	0	1	0	34	2				
FCN1	2219	broad.mit.edu	37	9	137803022	137803022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:137803022C>G	uc004cfi.2	-	8	782	c.690G>C	c.(688-690)GAG>GAC	p.E230D		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	230	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTTGTACTTCTCTGCCTCGT	0.552		NaN											0	0	0	1	0	72	173				
KIAA0649	9858	broad.mit.edu	37	9	138378236	138378236	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:138378236G>A	uc004cfr.1	+	4	2429	c.1880G>A	c.(1879-1881)AGA>AAA	p.R627K		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	627						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		AGCCAGGGGAGAGCTGAGCCC	0.662		NaN											0	0	0	1	0	4	41				
SNAPC4	6621	broad.mit.edu	37	9	139273711	139273711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139273711C>G	uc004chh.2	-	21	2577	c.2568G>C	c.(2566-2568)AAG>AAC	p.K856N		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	856					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGGCACTCTTTGAGGCTT	0.662		NaN											0	0	0	1	0	14	4				
NOTCH1	4851	broad.mit.edu	37	9	139405623	139405623	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139405623G>C	uc004chz.2	-	16	2568	c.2568C>G	c.(2566-2568)GTC>GTG	p.V856V	NOTCH1_uc004cia.1_Silent_p.V86V	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	856	Extracellular (Potential).|EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGGGGCAGACACAGGAGA	0.677		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	1	0	17	69				
COBRA1	25920	broad.mit.edu	37	9	140166654	140166654	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140166654C>T	uc004cmm.3	+	11	1670	c.1467C>T	c.(1465-1467)TTC>TTT	p.F489F		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	489					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		TCGATGGCTTCTTCCTCACCG	0.617		NaN											0	0	0	1	0	58	26				
EHMT1	79813	broad.mit.edu	37	9	140657159	140657159	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140657159G>C	uc011mfc.1	+	10	1571	c.1534G>C	c.(1534-1536)GAC>CAC	p.D512H	EHMT1_uc004coa.2_Missense_Mutation_p.D512H|EHMT1_uc004cob.1_Missense_Mutation_p.D481H|FLJ40292_uc010nco.2_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	512					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGGAGACAGACGGCCTCCA	0.537		NaN											0	0	0	1	0	6	31				
MXRA5	25878	broad.mit.edu	37	X	3229461	3229461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:3229461C>T	uc004crg.3	-	7	6940	c.6783G>A	c.(6781-6783)CTG>CTA	p.L2261L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2261	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCCACTTTCAGGTCACCCC	0.557		NaN											0	0	0	1	0	35	35				
ARHGAP6	395	broad.mit.edu	37	X	11197423	11197423	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:11197423G>A	uc004cup.1	-	7	2352	c.1479C>T	c.(1477-1479)CTC>CTT	p.L493L	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.L493L|ARHGAP6_uc004cum.1_Silent_p.L290L|ARHGAP6_uc004cun.1_Silent_p.L313L|ARHGAP6_uc010neb.1_Silent_p.L315L|ARHGAP6_uc011mif.1_Silent_p.L290L	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	493	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						ATTACGCACAGAGAGTGTTGA	0.453		NaN											0	0	0	1	0	54	4				
DDX3X	1654	broad.mit.edu	37	X	41203072	41203072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:41203072G>A	uc004dfe.2	+	8	1617	c.762G>A	c.(760-762)ATG>ATA	p.M254I	DDX3X_uc010nhf.1_Missense_Mutation_p.M238I|DDX3X_uc004dff.2_Missense_Mutation_p.M254I|DDX3X_uc011mkq.1_Missense_Mutation_p.M238I|DDX3X_uc011mkr.1_Missense_Mutation_p.M254I|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	254	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TGAGGGCCATGAAGGTAGATG	0.398		NaN								HNSCC(61;0.18)			0	0	0	1	0	20	20				
WDR45	11152	broad.mit.edu	37	X	48932868	48932868	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:48932868G>A	uc004dmk.1	-	10	1072	c.900C>T	c.(898-900)TTC>TTT	p.F300F	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Silent_p.F261F|WDR45_uc004dml.1_Silent_p.F301F|WDR45_uc004dmm.1_Silent_p.F265F|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Silent_p.F191F|WDR45_uc004dmo.1_Silent_p.F323F|WDR45_uc004dmp.1_Silent_p.F301F	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	300				FTV -> YTA (in Ref. 1; AAV80764).	autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						CAGGCACAGTGAAGCTCGCCA	0.597		NaN											0	0	0	1	0	6	12				
CCDC22	28952	broad.mit.edu	37	X	49106025	49106025	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:49106025A>T	uc004dnd.1	+	15	1847	c.1691A>T	c.(1690-1692)CAC>CTC	p.H564L	CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	564										central_nervous_system(1)	1						GCTGCTCTGCACGAGGTGAGG	0.597		NaN											0	0	0	1	0	10	11				
CCNB3	85417	broad.mit.edu	37	X	50053381	50053381	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50053381G>A	uc004dox.3	+	6	2510	c.2212G>A	c.(2212-2214)GAG>AAG	p.E738K	CCNB3_uc004doy.2_Missense_Mutation_p.E738K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	738					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GCTTTCTGCTGAGGCAGCCAC	0.428		NaN											0	0	0	1	0	29	1				
SHROOM4	57477	broad.mit.edu	37	X	50377284	50377284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377284G>A	uc004dpe.2	-	4	1815	c.1789C>T	c.(1789-1791)CAG>TAG	p.Q597*	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Nonsense_Mutation_p.Q481*	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	597					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TTCCTCCTCTGAATTTCATTA	0.582		NaN											0	0	0	1	0	27	1				
SHROOM4	57477	broad.mit.edu	37	X	50377642	50377642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377642G>A	uc004dpe.2	-	4	1457	c.1431C>T	c.(1429-1431)ACC>ACT	p.T477T	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.T361T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					CCACTTGTCTGGTCTTTCTTT	0.527		NaN											0	0	0	1	0	73	7				
HUWE1	10075	broad.mit.edu	37	X	53575134	53575134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:53575134G>A	uc004dsp.2	-	68	10538	c.10136C>T	c.(10135-10137)TCC>TTC	p.S3379F	HUWE1_uc004dsn.2_Missense_Mutation_p.S2187F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3379					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						ACTGCTGGAGGACTGTGAGGA	0.507		NaN											0	0	0	1	0	5	3				
MAGEE1	57692	broad.mit.edu	37	X	75649791	75649791	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:75649791C>A	uc004ecm.1	+	1	1675	c.1468C>A	c.(1468-1470)CCT>ACT	p.P490T		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	490						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GCCCCAAGACCCTATGGAACA	0.483		NaN											1	0	2.17888e-05	1	2.24966e-05	9	26				
RPS6KA6	27330	broad.mit.edu	37	X	83375020	83375020	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:83375020T>C	uc004eej.1	-	9	739	c.662A>G	c.(661-663)AAG>AGG	p.K221R	RPS6KA6_uc011mqt.1_Missense_Mutation_p.K221R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.K118R|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	221	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TACTGACTCCTTGCTGAGTCC	0.343		NaN											0	0	0	1	0	50	10				
MID2	11043	broad.mit.edu	37	X	107084381	107084381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:107084381T>A	uc004enl.2	+	2	1059	c.486T>A	c.(484-486)TGT>TGA	p.C162*	MID2_uc004enk.2_Nonsense_Mutation_p.C162*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	162	B box-type 1; degenerate.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TCTCCTACTGTGACCGTTGCC	0.572		NaN											0	0	0	1	0	7	23				
AMOT	154796	broad.mit.edu	37	X	112033888	112033888	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:112033888C>T	uc004epr.2	-	7	2049	c.2049G>A	c.(2047-2049)CAG>CAA	p.Q683Q	AMOT_uc004eps.2_Silent_p.Q274Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	683	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CCAAATATTTCTGCTCCCACT	0.493		NaN											0	0	0	1	0	34	103				
ODZ1	10178	broad.mit.edu	37	X	123518337	123518337	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123518337T>A	uc004euj.2	-	29	6487	c.6423A>T	c.(6421-6423)GGA>GGT	p.G2141G	ODZ1_uc011muj.1_Silent_p.G2147G|ODZ1_uc010nqy.2_Silent_p.G2148G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2141	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGGCATCTACTCCTACCCTTA	0.398		NaN											0	0	0	1	0	38	153				
ODZ1	10178	broad.mit.edu	37	X	123680941	123680941	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123680941C>G	uc004euj.2	-	15	2499	c.2435_splice	c.e15-1	p.D812_splice	ODZ1_uc011muj.1_Splice_Site_p.D811_splice|ODZ1_uc010nqy.2_Splice_Site_p.D812_splice	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3						immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GTTAAACCATCTGGAAATAAA	0.348		NaN											0	0	0	1	0	37	3				
BCORL1	63035	broad.mit.edu	37	X	129149535	129149535	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129149535G>A	uc004evb.1	+	4	2901	c.2787G>A	c.(2785-2787)CAG>CAA	p.Q929Q	BCORL1_uc010nrd.1_Silent_p.Q831Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	929					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TCAGCCCTCAGACTGGGACCC	0.537		NaN											0	0	0	1	0	13	34				
GPR119	139760	broad.mit.edu	37	X	129519381	129519381	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129519381A>C	uc011muv.1	-	1	41	c.41T>G	c.(40-42)CTG>CGG	p.L14R		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	14	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2						GAGGGAGGCCAGGACAGCAAG	0.483		NaN											0	0	0	1	0	68	136				
DKC1	1736	broad.mit.edu	37	X	153995277	153995277	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:153995277G>C	uc004fmm.2	+	6	664	c.454G>C	c.(454-456)GAG>CAG	p.E152Q	DKC1_uc010nvf.2_Missense_Mutation_p.E152Q|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	152					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCAGGCAAAGAGTATGTGGG	0.463		NaN							Congenital_Dyskeratosis				0	0	0	1	0	10	49				
AGRN	375790	broad.mit.edu	37	1	984698	984698	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:984698C>T	uc001ack.1	+	25	4431	c.4381C>T	c.(4381-4383)CGG>TGG	p.R1461W		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1461	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGAGCTGTCCCGGCACTGGCG	0.687		NaN											0	0	0	1	0	15	24				
MXRA8	54587	broad.mit.edu	37	1	1290868	1290868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:1290868G>C	uc001aew.2	-	3	369	c.338C>G	c.(337-339)TCG>TGG	p.S113W	MXRA8_uc001aex.3_Missense_Mutation_p.S113W|MXRA8_uc001aey.3_Missense_Mutation_p.S113W|MXRA8_uc010nyl.1_Missense_Mutation_p.S113W|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Missense_Mutation_p.S104W	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	113	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCGAAGGCCGAGGCCGAGAG	0.468		NaN											0	0	0	1	0	9	5				
MEGF6	1953	broad.mit.edu	37	1	3417236	3417236	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:3417236G>A	uc001akl.2	-	21	2895	c.2668C>T	c.(2668-2670)CTG>TTG	p.L890L	MEGF6_uc001akk.2_Silent_p.L785L	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	890	EGF-like 15.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCTCACACAGACACAGGCCG	0.602		NaN											0	0	0	1	0	4	7				
KCNAB2	8514	broad.mit.edu	37	1	6158568	6158568	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:6158568C>T	uc009vlv.1	+	16	1173	c.1038C>T	c.(1036-1038)TCC>TCT	p.S346S	KCNAB2_uc001alv.1_Silent_p.S346S|KCNAB2_uc001alw.1_Silent_p.S332S|KCNAB2_uc001alx.1_Silent_p.S346S|KCNAB2_uc001aly.1_Silent_p.S394S|KCNAB2_uc009vlw.1_Silent_p.S279S|KCNAB2_uc001alu.2_3'UTR	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	346						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCATCTTCCATTATCCACG	0.537		NaN											0	0	0	1	0	17	30				
LRRC41	10489	broad.mit.edu	37	1	46746887	46746887	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:46746887G>A	uc001cpn.2	-	5	1710	c.1666C>T	c.(1666-1668)CGT>TGT	p.R556C	LRRC41_uc010omb.1_Missense_Mutation_p.R556C	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	556										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGGTCAACACGAATAGAGAGG	0.597		NaN											0	0	0	1	0	34	66				
LRRC7	57554	broad.mit.edu	37	1	70504295	70504295	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:70504295G>A	uc001dep.2	+	19	2704	c.2674G>A	c.(2674-2676)GTA>ATA	p.V892I	LRRC7_uc009wbg.2_Missense_Mutation_p.V176I|LRRC7_uc001deq.2_Missense_Mutation_p.V133I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	892						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTCTCCAGGCGTACCATGGGA	0.423		NaN											0	0	0	1	0	48	82				
TTLL7	79739	broad.mit.edu	37	1	84399296	84399296	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:84399296G>A	uc001djc.2	-	9	1438	c.1042C>T	c.(1042-1044)CTG>TTG	p.L348L	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	348	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTACCTCCAGAAGCCATGGC	0.373		NaN											0	0	0	1	0	67	71				
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:100701061C>T	uc001dta.2	-	3	215	c.182G>A	c.(181-183)CGT>CAT	p.R61H	DBT_uc010oug.1_Translation_Start_Site	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333		NaN											0	0	0	1	0	8	72				
SCNM1	79005	broad.mit.edu	37	1	151141526	151141526	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:151141526G>A	uc001ewz.2	+	7	770	c.658G>A	c.(658-660)GAT>AAT	p.D220N	SCNM1_uc009wmn.2_RNA	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	220					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTTGACTCTGATGAGGAGGA	0.423		NaN											0	0	0	1	0	52	68				
HRNR	388697	broad.mit.edu	37	1	152188366	152188366	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:152188366G>A	uc001ezt.1	-	3	5815	c.5739C>T	c.(5737-5739)CAC>CAT	p.H1913H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1913	21.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTAGATCCGTGTTGTTCAC	0.557		NaN											0	0	0	1	0	65	875				
FCRL2	79368	broad.mit.edu	37	1	157739894	157739894	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:157739894G>A	uc001fre.2	-	4	416	c.357C>T	c.(355-357)ATC>ATT	p.I119I	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.I119I|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Silent_p.I119I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	119	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACCCCCTTCGATGGGCTGGA	0.527		NaN											0	0	0	1	0	40	41				
SPTA1	6708	broad.mit.edu	37	1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:158585162C>T	uc001fst.1	-	48	6831	c.6632G>A	c.(6631-6633)CGT>CAT	p.R2211H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211	Spectrin 21.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGTTAGTTGACGCTTCATCGC	0.483		NaN											0	0	0	1	0	104	85				
LY9	4063	broad.mit.edu	37	1	160769712	160769712	+	Silent	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:160769712T>A	uc001fwu.2	+	2	344	c.294T>A	c.(292-294)ATT>ATA	p.I98I	LY9_uc001fwt.2_Silent_p.I98I|LY9_uc010pjs.1_Silent_p.I98I|LY9_uc001fwv.2_Silent_p.I98I|LY9_uc001fww.2_Silent_p.I98I|LY9_uc001fwx.2_Silent_p.I98I|LY9_uc001fwy.1_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	98	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTAACCATTATGGTCAAAA	0.468		NaN											0	0	0	1	0	70	90				
ATF6	22926	broad.mit.edu	37	1	161789557	161789557	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:161789557G>A	uc001gbr.2	+	8	1111	c.1044G>A	c.(1042-1044)CTG>CTA	p.L348L	ATF6_uc001gbq.1_Silent_p.L348L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	348	Cytoplasmic (Potential).|Leucine-zipper.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACGAGCAACTGAAGAAAGAAA	0.448		NaN											0	0	0	1	0	19	27				
RASAL2	9462	broad.mit.edu	37	1	178063703	178063703	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:178063703G>A	uc001glq.2	+	1	840	c.76G>A	c.(76-78)GAC>AAC	p.D26N	RASAL2_uc009wxb.2_Missense_Mutation_p.D26N|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						GCTGGAGTCCGACTCGCCGCT	0.706		NaN											0	0	0	1	0	11	6				
TMCC2	9911	broad.mit.edu	37	1	205210828	205210828	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:205210828G>A	uc001hbz.1	+	3	847	c.403G>A	c.(403-405)GCC>ACC	p.A135T	TMCC2_uc010prf.1_Missense_Mutation_p.A57T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	135						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCTACGCCATGTCCCT	0.662		NaN											0	0	0	1	0	19	35				
TP53BP2	7159	broad.mit.edu	37	1	223984287	223984287	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:223984287C>T	uc010pvb.1	-	13	2246	c.1954G>A	c.(1954-1956)GGT>AGT	p.G652S	TP53BP2_uc001hod.2_Missense_Mutation_p.G523S|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.G291S	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	646					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ACAGGCTTACCATATACTAAT	0.398		NaN											0	0	0	1	0	34	77				
OBSCN	84033	broad.mit.edu	37	1	228399647	228399647	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:228399647C>T	uc009xez.1	+	2	207	c.163C>T	c.(163-165)CGC>TGC	p.R55C	OBSCN_uc001hsn.2_Missense_Mutation_p.R55C|uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	55	Ig-like 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGCCGGCGCGCGCTTCCGTCT	0.687		NaN											0	0	0	1	0	11	6				
RYR2	6262	broad.mit.edu	37	1	237756779	237756779	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:237756779T>A	uc001hyl.1	+	33	4399	c.4279T>A	c.(4279-4281)TAT>AAT	p.Y1427N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1427	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCACAGTACTATTACTCAGT	0.388		NaN											0	0	0	1	0	12	46				
PPPDE1	51029	broad.mit.edu	37	1	244868861	244868861	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:244868861C>G	uc001iao.2	+	5	619	c.355C>G	c.(355-357)CTT>GTT	p.L119V	PPPDE1_uc001iap.2_Missense_Mutation_p.L86V|PPPDE1_uc001iaq.1_RNA	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	119	PPPDE peptidase.									breast(3)	3						TCTGTAGATTCTTTGTGGGAA	0.522		NaN											0	0	0	1	0	55	69				
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:248084484G>A	uc010pzc.1	+	1	165	c.165G>A	c.(163-165)ACG>ACA	p.T55T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522		NaN											0	0	0	1	0	62	95				
CUBN	8029	broad.mit.edu	37	10	16883020	16883020	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:16883020C>T	uc001ioo.2	-	61	9742	c.9690G>A	c.(9688-9690)GCG>GCA	p.A3230A		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3230	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCAAGTTCGCATTTTCAC	0.368		NaN											0	0	0	1	0	14	15				
MASTL	84930	broad.mit.edu	37	10	27459681	27459681	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:27459681C>G	uc001itm.2	+	8	2432	c.1793C>G	c.(1792-1794)TCT>TGT	p.S598C	MASTL_uc001itl.2_Missense_Mutation_p.S598C|MASTL_uc009xkw.1_Missense_Mutation_p.S598C|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	598	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						AAAGAATCCTCTTTTGAAGAA	0.368		NaN											0	0	0	1	0	10	23				
RET	5979	broad.mit.edu	37	10	43623613	43623613	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:43623613G>C	uc001jal.2	+	20	3431	c.3241G>C	c.(3241-3243)GAT>CAT	p.D1081H		NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1081	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CACGAGAGCTGATGGCACTAA	0.438		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	1	0	41	82				
ERCC6	2074	broad.mit.edu	37	10	50740776	50740776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:50740776G>A	uc001jhs.3	-	2	389	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	PGBD3_uc009xoe.2_Nonsense_Mutation_p.Q79*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.Q79*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	79					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCCTGGATCTGATGTCGGTCG	0.622		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	25	33				
PRF1	5551	broad.mit.edu	37	10	72360386	72360386	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:72360386C>T	uc009xqg.2	-	2	434	c.273G>A	c.(271-273)GCG>GCA	p.A91A	PRF1_uc001jrf.3_Silent_p.A91A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	91	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AGTTGGTGAGCGCCAGAGGCA	0.657		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	1	0	18	16				
SORCS3	22986	broad.mit.edu	37	10	106916969	106916969	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:106916969A>T	uc001kyi.1	+	10	1783	c.1556A>T	c.(1555-1557)AAC>ATC	p.N519I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	519	BNR 4.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCACTTACAACAAAGGCAGG	0.512		NaN											0	0	0	1	0	27	24				
C10orf82	143379	broad.mit.edu	37	10	118424359	118424359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:118424359C>G	uc001lcr.2	-	4	429	c.374G>C	c.(373-375)AGA>ACA	p.R125T	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	125											0				all cancers(201;0.0143)		GACAGTGTATCTCGTGCCACA	0.522		NaN											0	0	0	1	0	49	64				
KNDC1	85442	broad.mit.edu	37	10	135020668	135020668	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:135020668G>A	uc001llz.1	+	20	3608	c.3607G>A	c.(3607-3609)GAG>AAG	p.E1203K	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1203					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGGGCCTGGAGCCCTGCAC	0.657		NaN											0	0	0	1	0	4	8				
PLEKHA7	144100	broad.mit.edu	37	11	16838384	16838384	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:16838384C>T	uc001mmo.2	-	11	1844	c.1829G>A	c.(1828-1830)GGG>GAG	p.G610E	PLEKHA7_uc010rcu.1_Missense_Mutation_p.G610E|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G184E|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G318E	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	610	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TGGAGAATCCCCCAGCGAGAT	0.657		NaN											0	0	0	1	0	49	5				
ALX4	60529	broad.mit.edu	37	11	44296955	44296955	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:44296955G>A	uc001myb.2	-	2	824	c.720C>T	c.(718-720)GAC>GAT	p.D240D		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	240	Homeobox.				hair follicle development						0						GCGCATACACGTCTGGGTAGT	0.617		NaN											0	0	0	1	0	106	13				
PATL1	219988	broad.mit.edu	37	11	59415362	59415362	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:59415362C>T	uc001noe.3	-	15	1901	c.1758G>A	c.(1756-1758)CAG>CAA	p.Q586Q	PATL1_uc009yms.1_Silent_p.Q556Q	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	586	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						TACACATGATCTGTACAAAGT	0.438		NaN											0	0	0	1	0	20	30				
MS4A12	54860	broad.mit.edu	37	11	60264894	60264894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:60264894G>T	uc001npr.2	+	2	160	c.103G>T	c.(103-105)GGT>TGT	p.G35C	MS4A12_uc009ynb.2_Missense_Mutation_p.G35C	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	35	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ACAGCCTCTGGGTTCAATCAA	0.507		NaN											1	0	4.81439e-37	1	5.01864e-37	80	86				
INPPL1	3636	broad.mit.edu	37	11	71949104	71949104	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:71949104G>T	uc001osf.2	+	27	3718	c.3571G>T	c.(3571-3573)GGG>TGG	p.G1191W	INPPL1_uc001osg.2_Missense_Mutation_p.G949W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1191					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CCTGCAGGGCGGGCGGGCCAG	0.657		NaN									OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.000586117	1	0.000589545	23	19				
PPME1	51400	broad.mit.edu	37	11	73958134	73958134	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:73958134A>G	uc001ouw.2	+	11	1074	c.975A>G	c.(973-975)AGA>AGG	p.R325R	PPME1_uc009yty.2_Silent_p.R209R|PPME1_uc001oux.2_Silent_p.R138R	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	325					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					GTGTTGATAGATTGGATAAAG	0.348		NaN											0	0	0	1	0	15	17				
P4HA3	283208	broad.mit.edu	37	11	74009284	74009284	+	Missense_Mutation	SNP	C	C	G	rs142768884	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:74009284C>G	uc001ouz.2	-	4	733	c.690G>C	c.(688-690)TTG>TTC	p.L230F	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L230F	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	230	TPR.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					CCAAGTGATCCAAGGCATCTT	0.413		NaN											0	0	0	1	0	48	87				
FAT3	120114	broad.mit.edu	37	11	92531924	92531924	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:92531924C>T	uc001pdj.3	+	9	5762	c.5745C>T	c.(5743-5745)CCC>CCT	p.P1915P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1915	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGAGGTACCCCCTGAACTGA	0.418		NaN								TCGA Ovarian(4;0.039)			0	0	0	1	0	25	3				
BUD13	84811	broad.mit.edu	37	11	116633513	116633513	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:116633513G>A	uc001ppn.2	-	4	826	c.792C>T	c.(790-792)CTC>CTT	p.L264L	BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Silent_p.L264L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	264	Arg-rich.									large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGCCCTTCTGAGTTGCTGTG	0.517		NaN											0	0	0	1	0	140	14				
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:13716716G>A	uc001rbt.2	-	13	3635	c.3456C>T	c.(3454-3456)ACC>ACT	p.T1152T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1152	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGATGTCGGTCAGGTCTA	0.577		NaN											0	0	0	1	0	66	33				
MCRS1	10445	broad.mit.edu	37	12	49957275	49957275	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:49957275C>G	uc001ruk.1	-	7	803	c.612G>C	c.(610-612)CAG>CAC	p.Q204H	MCRS1_uc001rui.1_Missense_Mutation_p.Q217H|MCRS1_uc001ruj.1_Missense_Mutation_p.Q191H|MCRS1_uc001rul.1_Missense_Mutation_p.Q204H|MCRS1_uc009zlj.1_Missense_Mutation_p.Q13H|MCRS1_uc001rum.1_Missense_Mutation_p.Q191H|MCRS1_uc001run.1_Missense_Mutation_p.Q204H	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	204					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						GGGCCTTGCTCTGGATGGCTG	0.597		NaN											0	0	0	1	0	6	13				
KIF5A	3798	broad.mit.edu	37	12	57963097	57963097	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:57963097G>A	uc001sor.1	+	10	1086	c.878G>A	c.(877-879)GGG>GAG	p.G293E	KIF5A_uc010srr.1_Missense_Mutation_p.G204E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	293	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GACTCTCTCGGGGGAAACTGC	0.478		NaN											0	0	0	1	0	22	71				
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:81110945C>T	uc001szg.2	+	1	238	c.103C>T	c.(103-105)CGA>TGA	p.R35*		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GTTTGTGCCGCGAGTGGCTGC	0.622		NaN											0	0	0	1	0	46	19				
TRPV4	59341	broad.mit.edu	37	12	110238434	110238434	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:110238434T>C	uc001tpj.1	-	4	937	c.842A>G	c.(841-843)TAC>TGC	p.Y281C	TRPV4_uc001tpg.1_Missense_Mutation_p.Y247C|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.Y281C|TRPV4_uc001tpl.1_Missense_Mutation_p.Y281C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	281	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AAAGTAGAAGTAGCCCCCCTC	0.612		NaN											0	0	0	1	0	61	28				
SACS	26278	broad.mit.edu	37	13	23908464	23908464	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:23908464C>T	uc001uon.2	-	10	10140	c.9551G>A	c.(9550-9552)CGC>CAC	p.R3184H	SACS_uc001uoo.2_Missense_Mutation_p.R3037H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3184					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTCTTTGCGGGATGGAAT	0.343		NaN											0	0	0	1	0	11	13				
PABPC3	5042	broad.mit.edu	37	13	25671775	25671775	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:25671775C>G	uc001upy.2	+	1	1500	c.1439C>G	c.(1438-1440)TCA>TGA	p.S480*		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	480					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCTAACACATCAACACAGACA	0.433		NaN											0	0	0	1	0	31	55				
FLT1	2321	broad.mit.edu	37	13	29012388	29012388	+	Silent	SNP	C	C	T	rs116486684	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:29012388C>T	uc001usb.3	-	4	768	c.483G>A	c.(481-483)ACG>ACA	p.T161T	FLT1_uc010aar.1_Silent_p.T161T|FLT1_uc001usc.3_Silent_p.T161T|FLT1_uc010tdp.1_Silent_p.T161T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	161	Ig-like C2-type 2.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTTAGGTGACGTAACCCGGC	0.398		NaN											0	0	0	1	0	11	11				
HS6ST3	266722	broad.mit.edu	37	13	96743176	96743176	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:96743176C>G	uc001vmw.2	+	1	84	c.60C>G	c.(58-60)GTC>GTG	p.V20V		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	20	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCTTCGTGGTCATCATGTACC	0.438		NaN											0	0	0	1	0	16	27				
COL4A2	1284	broad.mit.edu	37	13	111164350	111164350	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:111164350C>T	uc001vqx.2	+	48	5240	c.4951C>T	c.(4951-4953)CGC>TGC	p.R1651C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGACTTCCGCGCCACACC	0.617		NaN											0	0	0	1	0	34	74				
OR6S1	341799	broad.mit.edu	37	14	21108981	21108981	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:21108981T>C	uc001vxv.1	-	1	870	c.870A>G	c.(868-870)CCA>CCG	p.P290P		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CATAGATGAATGGATTCAACA	0.433		NaN											0	0	0	1	0	78	102				
FBXO34	55030	broad.mit.edu	37	14	55817949	55817949	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:55817949G>C	uc001xbu.2	+	2	1086	c.841G>C	c.(841-843)GAC>CAC	p.D281H	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.D281H	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	281										ovary(2)|lung(2)|skin(1)	5						CCGTGTCCTTGACATGGTAGC	0.552		NaN											0	0	0	1	0	88	81				
ATP10A	57194	broad.mit.edu	37	15	25969114	25969114	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:25969114G>A	uc010ayu.2	-	6	1140	c.1034C>T	c.(1033-1035)CCC>CTC	p.P345L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	345	Extracellular (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCAGACTTGGGGACATAAAA	0.373		NaN											0	0	0	1	0	44	74				
GABRA5	2558	broad.mit.edu	37	15	27126006	27126006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:27126006C>T	uc001zbd.1	+	5	439	c.100C>T	c.(100-102)CCA>TCA	p.P34S	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	34	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCACAGATGCCAACCAGTTC	0.418		NaN											0	0	0	1	0	21	39				
RFX7	64864	broad.mit.edu	37	15	56388173	56388173	+	Missense_Mutation	SNP	C	C	T	rs140370063	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:56388173C>T	uc010bfn.2	-	9	1753	c.1753G>A	c.(1753-1755)GAA>AAA	p.E585K	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.E399K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	488					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						ATGACACCTTCATTTGAAGGT	0.458		NaN											0	0	0	1	0	21	14				
C15orf27	123591	broad.mit.edu	37	15	76496330	76496330	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:76496330C>T	uc002bbq.2	+	11	1425	c.1270C>T	c.(1270-1272)CCT>TCT	p.P424S	C15orf27_uc010bkp.2_Missense_Mutation_p.P240S|C15orf27_uc002bbr.2_Missense_Mutation_p.P240S|C15orf27_uc002bbs.2_Missense_Mutation_p.P102S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	424						integral to membrane					0						TGAGCCCGGCCCTTCTCCCCC	0.701		NaN											0	0	0	1	0	28	38				
MKL2	57496	broad.mit.edu	37	16	14339510	14339510	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:14339510A>T	uc010uza.1	+	11	1360	c.1205A>T	c.(1204-1206)GAC>GTC	p.D402V	MKL2_uc002dcg.2_Missense_Mutation_p.D402V|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	391	SAP.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						AGCCTGGATGACTTAAAGGTG	0.433		NaN											0	0	0	1	0	61	94				
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:67289057C>T	uc002esm.2	+	3	687	c.624C>T	c.(622-624)GGC>GGT	p.G208G	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	208	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592		NaN											0	0	0	1	0	67	72				
MYH1	4619	broad.mit.edu	37	17	10398335	10398335	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:10398335C>T	uc002gmo.2	-	37	5473	c.5379G>A	c.(5377-5379)ACG>ACA	p.T1793T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGTCCTTCACCGTCTGTTCCA	0.557		NaN											0	0	0	1	0	119	12				
ALKBH5	54890	broad.mit.edu	37	17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:18088053G>A	uc010cpw.2	+	1	1187	c.496G>A	c.(496-498)GAG>AAG	p.E166K	uc002gsn.2_RNA|ALKBH5_uc010cpx.2_5'Flank	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	166						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672		NaN											0	0	0	1	0	45	3				
GPR179	440435	broad.mit.edu	37	17	36492872	36492872	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:36492872G>A	uc002hpz.2	-	4	1237	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	406	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGTTCCGGCGGCAGCGGTAG	0.577		NaN											0	0	0	1	0	9	11				
GSDMA	284110	broad.mit.edu	37	17	38133155	38133155	+	Silent	SNP	C	C	T	rs138595723	by1000genomes	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:38133155C>T	uc002htl.1	+	12	1300	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	GSDMA_uc002htm.1_Silent_p.D394D	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	394					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CCCTTGGGGACGAGGAGCTGA	0.597		NaN											0	0	0	1	0	24	104				
PTRF	284119	broad.mit.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:40556892C>T	uc002hzo.2	-	2	1145	c.986G>A	c.(985-987)CGC>CAC	p.R329H	PTRF_uc010wgi.1_Missense_Mutation_p.R311H	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	329					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677		NaN											0	0	0	1	0	24	66				
CDC27	996	broad.mit.edu	37	17	45247383	45247383	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247383A>C	uc002ild.3	-	4	404	c.277T>G	c.(277-279)TCT>GCT	p.S93A	CDC27_uc002ile.3_Missense_Mutation_p.S93A|CDC27_uc002ilf.3_Missense_Mutation_p.S93A|CDC27_uc010wkp.1_Missense_Mutation_p.S32A|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	93	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						ACTCCACCAGATAAGATTTGT	0.313		NaN											0	0	0	1	0	8	142				
CDK5RAP3	80279	broad.mit.edu	37	17	46053301	46053301	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:46053301G>A	uc002imr.2	+	8	804	c.720G>A	c.(718-720)GAG>GAA	p.E240E	CDK5RAP3_uc010wlc.1_Silent_p.E260E|CDK5RAP3_uc002imq.1_Silent_p.E15E|CDK5RAP3_uc002imu.2_Silent_p.E84E|CDK5RAP3_uc002ims.2_Silent_p.E153E|CDK5RAP3_uc002imv.2_Silent_p.E84E|CDK5RAP3_uc002imw.2_Silent_p.E84E|CDK5RAP3_uc002imx.2_Silent_p.E15E	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	240					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0						CGGTGTACGAGTGGAGGACAG	0.587		NaN											0	0	0	1	0	46	84				
TRIM25	7706	broad.mit.edu	37	17	54969173	54969173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:54969173G>T	uc002iut.2	-	9	1841	c.1781C>A	c.(1780-1782)GCC>GAC	p.A594D	TRIM25_uc010dcj.2_Missense_Mutation_p.A386D	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	594	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GACCTTGTCGGCAACAGCGAA	0.542		NaN											1	0	4.4004e-07	1	4.45217e-07	25	28				
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56321382C>G	uc002ivt.2	+	3	420	c.104C>G	c.(103-105)TCC>TGC	p.S35C	LPO_uc010dco.2_Missense_Mutation_p.S35C|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Intron|LPO_uc010dcp.2_Intron	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	35					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TCTGCCATCTCCGATACTGTG	0.468		NaN											0	0	0	1	0	11	32				
LPO	4025	broad.mit.edu	37	17	56342246	56342246	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56342246G>A	uc002ivt.2	+	10	1746	c.1430G>A	c.(1429-1431)CGC>CAC	p.R477H	LPO_uc010wns.1_Missense_Mutation_p.R418H|LPO_uc010dcp.2_Missense_Mutation_p.R394H|LPO_uc010dcq.2_Missense_Mutation_p.R148H|LPO_uc010dcr.2_Missense_Mutation_p.R40H	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	477					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						AGTATGTTCCGCCTGGATGAG	0.512		NaN											0	0	0	1	0	32	43				
GPR142	350383	broad.mit.edu	37	17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:72368159C>T	uc010wqy.1	+	4	809	c.809C>T	c.(808-810)TCG>TTG	p.S270L	GPR142_uc010wqx.1_Missense_Mutation_p.S182L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270	Cytoplasmic (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CGGGCCGCCTCGTCCCCAGGC	0.657		NaN											0	0	0	1	0	23	22				
PRTN3	5657	broad.mit.edu	37	19	846267	846267	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:846267G>A	uc002lqa.1	+	4	514	c.490G>A	c.(490-492)GAC>AAC	p.D164N		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	164	Peptidase S1.				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCCCACGACCCCCCAGC	0.677		NaN											0	0	0	1	0	8	8				
PTPRS	5802	broad.mit.edu	37	19	5212395	5212395	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:5212395G>A	uc002mbv.2	-	31	4956	c.4722C>T	c.(4720-4722)GTC>GTT	p.V1574V	PTPRS_uc002mbu.1_Silent_p.V1143V|PTPRS_uc010xin.1_Silent_p.V1116V|PTPRS_uc002mbw.2_Silent_p.V1536V|PTPRS_uc002mbx.2_Silent_p.V1131V|PTPRS_uc002mby.2_Silent_p.V1127V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1574	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCAGGTCTTGACTCTCCGCA	0.662		NaN											0	0	0	1	0	6	27				
MUC16	94025	broad.mit.edu	37	19	9076790	9076790	+	Silent	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:9076790A>T	uc002mkp.2	-	3	10860	c.10656T>A	c.(10654-10656)ACT>ACA	p.T3552T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3553	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGTGTGGTAGTTGAGATTG	0.547		NaN											0	0	0	1	0	90	131				
CACNA1A	773	broad.mit.edu	37	19	13409644	13409644	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:13409644G>A	uc010dze.2	-	19	3042	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	CACNA1A_uc010dzc.2_Missense_Mutation_p.R461W|CACNA1A_uc002mwy.3_Missense_Mutation_p.R935W|CACNA1A_uc010xne.1_Missense_Mutation_p.R464W	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	936	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCCCCTGCCGGTGCACGTGC	0.731		NaN											0	0	0	1	0	16	20				
ZNF257	113835	broad.mit.edu	37	19	22272043	22272043	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:22272043C>T	uc010ecx.2	+	4	1660	c.1491C>T	c.(1489-1491)AAC>AAT	p.N497N	ZNF257_uc010ecy.2_Silent_p.N465N	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	497	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTAACCGGTCTTCAC	0.393		NaN											0	0	0	1	0	32	35				
ZNF792	126375	broad.mit.edu	37	19	35451871	35451871	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35451871T>C	uc002nxh.1	-	2	448	c.61A>G	c.(61-63)ATT>GTT	p.I21V		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGTAAATGGTCACGTCC	0.547		NaN											0	0	0	1	0	76	102				
HPN	3249	broad.mit.edu	37	19	35551678	35551678	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35551678C>T	uc002nxq.1	+	10	1013	c.768C>T	c.(766-768)AAC>AAT	p.N256N	HPN_uc002nxr.1_Silent_p.N256N|HPN_uc002nxs.1_Silent_p.N98N|HPN_uc010xsh.1_Silent_p.N225N|HPN_uc002nxt.1_Silent_p.N140N|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	256	Extracellular (Potential).|Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGAACAGCAACGATATTGCCC	0.637		NaN											0	0	0	1	0	19	105				
TIMM50	92609	broad.mit.edu	37	19	39971574	39971574	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:39971574G>A	uc002olu.1	+	1	523	c.390G>A	c.(388-390)GCG>GCA	p.A130A	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	27					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGTTGGCGACGCCGCCCC	0.706		NaN											0	0	0	1	0	9	23				
MARK4	57787	broad.mit.edu	37	19	45783636	45783636	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:45783636G>A	uc002pbb.1	+	11	1016	c.1011G>A	c.(1009-1011)GTG>GTA	p.V337V	MARK4_uc002paz.1_Missense_Mutation_p.D75N|MARK4_uc002pba.1_Silent_p.V337V|MARK4_uc002pbc.1_Silent_p.V203V			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	337	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCAGAGGTGATGGTGGGTA	0.428		NaN											0	0	0	1	0	115	148				
ZNF649	65251	broad.mit.edu	37	19	52394437	52394437	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:52394437G>C	uc002pxy.2	-	5	1220	c.952C>G	c.(952-954)CAT>GAT	p.H318D	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	318	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGCATGTATGAGGCTTCTCT	0.453		NaN											0	0	0	1	0	27	37				
BRSK1	84446	broad.mit.edu	37	19	55815073	55815073	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:55815073C>T	uc002qkg.2	+	12	1442	c.1165C>T	c.(1165-1167)CGT>TGT	p.R389C	BRSK1_uc002qkf.2_Missense_Mutation_p.R405C|BRSK1_uc002qkh.2_Missense_Mutation_p.R84C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	389					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGCTGAGCCGTCACGGGAA	0.582		NaN											0	0	0	1	0	61	82				
LPIN1	23175	broad.mit.edu	37	2	11911614	11911614	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:11911614G>A	uc010yjn.1	+	5	679	c.405G>A	c.(403-405)ACG>ACA	p.T135T	LPIN1_uc010yjm.1_Silent_p.T184T|LPIN1_uc002rbt.2_Silent_p.T135T|LPIN1_uc002rbs.2_Silent_p.T135T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	135					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCCAGCACGCCAGCCCAAG	0.567		NaN											0	0	0	1	0	12	61				
GFPT1	2673	broad.mit.edu	37	2	69575328	69575328	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:69575328C>T	uc002sfh.2	-	10	1109	c.930G>A	c.(928-930)CAG>CAA	p.Q310Q		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	328					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						GGAGTTCCATCTGGAGTGTTT	0.428		NaN											0	0	0	1	0	75	73				
ANKRD36	375248	broad.mit.edu	37	2	97779652	97779652	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:97779652A>G	uc010yva.1	+	1	420	c.176A>G	c.(175-177)AAT>AGT	p.N59S	ANKRD36_uc002sxn.2_Missense_Mutation_p.N59S|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.N59S|ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	59	ANK 1.										0						TATGACGCCAATAAGAGAGAC	0.527		NaN											0	0	0	1	0	30	27				
MYO7B	4648	broad.mit.edu	37	2	128380819	128380819	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:128380819G>A	uc002top.2	+	28	3663	c.3610G>A	c.(3610-3612)GCC>ACC	p.A1204T	MYO7B_uc002toq.1_Missense_Mutation_p.A57T|MYO7B_uc002tor.1_Missense_Mutation_p.A57T	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1204	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTCATCTTGGCCACTGGAGA	0.577		NaN											0	0	0	1	0	12	43				
XIRP2	129446	broad.mit.edu	37	2	168104956	168104956	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:168104956G>A	uc002udx.2	+	8	7072	c.7054G>A	c.(7054-7056)GAT>AAT	p.D2352N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2177N|XIRP2_uc010fpq.2_Missense_Mutation_p.D2130N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2177	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ACCTCCAGTAGATGAGAAATC	0.473		NaN											0	0	0	1	0	47	131				
TTN	7273	broad.mit.edu	37	2	179579099	179579099	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:179579099G>A	uc010zfg.1	-	88	22894	c.22670C>T	c.(22669-22671)CCA>CTA	p.P7557L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4218L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8484							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATTGGCTGGTTCCACTCT	0.403		NaN											0	0	0	1	0	65	32				
FAM171B	165215	broad.mit.edu	37	2	187626350	187626350	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:187626350A>T	uc002ups.2	+	8	1393	c.1281A>T	c.(1279-1281)TTA>TTT	p.L427F	FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.2_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	427	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AGTCGCAGTTATTCAATGCCA	0.383		NaN											0	0	0	1	0	52	46				
SF3B1	23451	broad.mit.edu	37	2	198281605	198281605	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:198281605C>T	uc002uue.2	-	6	574	c.526G>A	c.(526-528)GCT>ACT	p.A176T	SF3B1_uc010fsk.1_RNA	NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	176					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAGCTTTAGCTTTTTCTGCT	0.423		NaN											0	0	0	1	0	54	125				
SERINC3	10955	broad.mit.edu	37	20	43142655	43142655	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:43142655T>C	uc002xme.2	-	2	200	c.66A>G	c.(64-66)TCA>TCG	p.S22S	SERINC3_uc002xmf.1_Silent_p.S22S|SERINC3_uc010ggs.1_Silent_p.S15S|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	22	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAGCAAACATGAGGCACCGC	0.488		NaN											0	0	0	1	0	84	49				
LAMA5	3911	broad.mit.edu	37	20	60913289	60913289	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:60913289C>T	uc002ycq.2	-	13	1822	c.1755G>A	c.(1753-1755)CAG>CAA	p.Q585Q		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	585	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACTCACACTGGCAGAGAG	0.672		NaN											0	0	0	1	0	18	23				
RIPK4	54101	broad.mit.edu	37	21	43176836	43176836	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:43176836A>C	uc002yzn.1	-	2	371	c.323T>G	c.(322-324)CTG>CGG	p.L108R		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	108						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CTCCGAAGCCAGCAGCTTTTC	0.602		NaN											0	0	0	1	0	49	50				
PCBP3	54039	broad.mit.edu	37	21	47349884	47349884	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:47349884C>G	uc002zhq.1	+	10	896	c.771C>G	c.(769-771)CTC>CTG	p.L257L	PCBP3_uc010gqb.2_Silent_p.L257L|PCBP3_uc002zhp.1_Silent_p.L257L|PCBP3_uc002zhs.1_Silent_p.L231L|PCBP3_uc002zhr.1_Silent_p.L256L|PCBP3_uc002zht.1_Silent_p.L247L	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	257					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTCCTCCCCTCGGACAGACCA	0.552		NaN											0	0	0	1	0	60	105				
SNAP29	9342	broad.mit.edu	37	22	21213484	21213484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:21213484G>A	uc011ahw.1	+	1	193	c.86G>A	c.(85-87)CGA>CAA	p.R29Q	PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank	NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	29					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGGGACGCCCGAGACCTCCCC	0.716		NaN											0	0	0	1	0	10	28				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:29091840_29091841TG>CA	uc003adu.1	-	11	1188_1189	c.1116_1117CA>TG	c.(1114-1119)TCCAAG>TCTGAG	p.K373E	CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	373	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(2)|p.S372S(1)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCCAAAATCTTGGAGTGCCCAA	0.416		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	1	0	5	76				
ANKRD28	23243	broad.mit.edu	37	3	15752761	15752761	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:15752761C>T	uc003caj.1	-	12	1347	c.1204G>A	c.(1204-1206)GAT>AAT	p.D402N	ANKRD28_uc003cai.1_Missense_Mutation_p.D248N|ANKRD28_uc011avz.1_Missense_Mutation_p.D248N|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.D432N|ANKRD28_uc003cam.2_Missense_Mutation_p.D435N	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	402						nucleoplasm	protein binding			breast(1)	1						CCAAAATCATCTGGGGTATCT	0.328		NaN											0	0	0	1	0	51	6				
MST1R	4486	broad.mit.edu	37	3	49927946	49927946	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49927946G>A	uc003cxy.3	-	18	4046	c.3782C>T	c.(3781-3783)ACC>ATC	p.T1261I	MST1R_uc011bdc.1_Missense_Mutation_p.T140I	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1261	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAATCTATAGGTCTGCAGGCT	0.572		NaN											0	0	0	1	0	36	2				
MST1R	4486	broad.mit.edu	37	3	49928679	49928679	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928679G>A	uc003cxy.3	-	17	3859	c.3595C>T	c.(3595-3597)CTG>TTG	p.L1199L	MST1R_uc011bdc.1_Silent_p.L78L	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1199	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCTGCCAGGTACTCCATG	0.612		NaN											0	0	0	1	0	63	2				
MST1R	4486	broad.mit.edu	37	3	49928719	49928719	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928719G>A	uc003cxy.3	-	17	3819	c.3555C>T	c.(3553-3555)CTC>CTT	p.L1185L	MST1R_uc011bdc.1_Silent_p.L64L	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1185	Cytoplasmic (Potential).|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAAGCTGATGAGGTCCTTCA	0.632		NaN											0	0	0	1	0	64	4				
MST1R	4486	broad.mit.edu	37	3	49929255	49929255	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49929255G>A	uc003cxy.3	-	15	3552	c.3288C>T	c.(3286-3288)GTC>GTT	p.V1096V	MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1096	Cytoplasmic (Potential).|ATP.|Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTCCGTGGTAGACAACTCCAA	0.532		NaN											0	0	0	1	0	129	11				
MBD4	8930	broad.mit.edu	37	3	129150350	129150350	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:129150350T>C	uc003emh.1	-	8	1913	c.1737A>G	c.(1735-1737)CTA>CTG	p.L579L	uc003emg.2_5'Flank|MBD4_uc003emi.1_3'UTR|MBD4_uc003emj.1_Silent_p.L573L|MBD4_uc003emk.1_Silent_p.L261L	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	579					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						GAGTTTAAGATAGACTTAATT	0.368		NaN						BER_DNA_glycosylases					0	0	0	1	0	125	9				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	1	0	20	11		Valid		
TBC1D1	23216	broad.mit.edu	37	4	38051478	38051478	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:38051478G>C	uc003gtb.2	+	11	2212	c.1869G>C	c.(1867-1869)ATG>ATC	p.M623I	TBC1D1_uc011byd.1_Missense_Mutation_p.M623I|TBC1D1_uc010ifd.2_Missense_Mutation_p.M370I|TBC1D1_uc011byf.1_Missense_Mutation_p.M494I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	623						nucleus	Rab GTPase activator activity			ovary(1)	1						GGAAACTTATGAGGTATCACT	0.507		NaN											0	0	0	1	0	124	56				
FRAS1	80144	broad.mit.edu	37	4	79205678	79205678	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:79205678T>C	uc003hlb.2	+	13	1815	c.1375T>C	c.(1375-1377)TAC>CAC	p.Y459H	FRAS1_uc003hkw.2_Missense_Mutation_p.Y459H|FRAS1_uc003hky.1_Missense_Mutation_p.Y163H|FRAS1_uc003hkz.2_Missense_Mutation_p.Y163H|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	459	FU 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ACTGGGTTTTTACCAAGCTGG	0.488		NaN											0	0	0	1	0	53	82				
PDHA2	5161	broad.mit.edu	37	4	96761293	96761293	+	Translation_Start_Site	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:96761293G>A	uc003htr.3	+	1	55	c.-8G>A	c.(-10--6)CCGTG>CCATG			NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor						glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAGCACTCCGTGAAGAATAT	0.617		NaN											0	0	0	1	0	4	16				
MTTP	4547	broad.mit.edu	37	4	100532349	100532349	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:100532349C>T	uc003hvc.3	+	14	2075	c.1819C>T	c.(1819-1821)CGT>TGT	p.R607C	MTTP_uc011cej.1_Missense_Mutation_p.R634C	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	607	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAATTATGACCGTTTCTCCAG	0.423		NaN											0	0	0	1	0	26	46				
FGG	2266	broad.mit.edu	37	4	155527888	155527888	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:155527888G>A	uc003ioj.2	-	8	1239	c.1098C>T	c.(1096-1098)CAC>CAT	p.H366H	FGG_uc003iog.2_Silent_p.H366H|FGG_uc003ioh.2_Silent_p.H374H|FGG_uc010ipx.2_Silent_p.H194H|FGG_uc010ipy.2_Silent_p.H77H|FGG_uc003ioi.2_Silent_p.H77H|FGG_uc003iok.2_Silent_p.H374H	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	366	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATGGCCAGCGTGACACTTGT	0.363		NaN											0	0	0	1	0	29	36				
ACSL1	2180	broad.mit.edu	37	4	185684329	185684329	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:185684329C>T	uc003iww.2	-	16	1807	c.1513G>A	c.(1513-1515)GAG>AAG	p.E505K	ACSL1_uc011ckm.1_Missense_Mutation_p.E334K|ACSL1_uc003iwt.1_Missense_Mutation_p.E505K|ACSL1_uc003iwu.1_Missense_Mutation_p.E505K|ACSL1_uc011ckn.1_Missense_Mutation_p.E471K|ACSL1_uc003iws.1_Missense_Mutation_p.E75K	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	505	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTCGCCCTCGCCCTCGGCA	0.478		NaN											0	0	0	1	0	8	21				
DNAH5	1767	broad.mit.edu	37	5	13753602	13753602	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:13753602A>C	uc003jfd.2	-	63	10654	c.10612T>G	c.(10612-10614)TTT>GTT	p.F3538V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3538					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGATCACGAAACTCTTGGTTA	0.383		NaN							Kartagener_syndrome				0	0	0	1	0	33	95				
NLN	57486	broad.mit.edu	37	5	65118647	65118647	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:65118647G>A	uc003juf.2	+	13	2135	c.2019G>A	c.(2017-2019)GGG>GGA	p.G673G	NLN_uc003jug.2_Silent_p.G502G|NLN_uc010iww.2_Silent_p.G350G	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	673					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAAACCTGGGGGATCTCTGG	0.408		NaN											0	0	0	1	0	28	67				
SLC30A5	64924	broad.mit.edu	37	5	68404192	68404192	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:68404192G>C	uc003jvh.2	+	5	577	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	SLC30A5_uc003jvi.2_5'UTR	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	126	Helical; (Potential).				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			central_nervous_system(1)	1		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGCTATTTGAGCACAGTGA	0.333		NaN											0	0	0	1	0	15	14				
FAM151B	167555	broad.mit.edu	37	5	79837636	79837636	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837636C>G	uc003kgv.1	+	6	959	c.816C>G	c.(814-816)ATC>ATG	p.I272M	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	272											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTGGAATCAAAGTTAATC	0.299		NaN											0	0	0	1	0	12	9				
FAM151B	167555	broad.mit.edu	37	5	79837648	79837648	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837648C>T	uc003kgv.1	+	6	971	c.828C>T	c.(826-828)CTC>CTT	p.L276L	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	276											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAGTTAATCTCTAAGAAGAAG	0.299		NaN											0	0	0	1	0	10	9				
GIN1	54826	broad.mit.edu	37	5	102442494	102442494	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:102442494C>T	uc003koa.1	-	3	341	c.259G>A	c.(259-261)GGT>AGT	p.G87S	GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Missense_Mutation_p.G87S	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	87					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGGATATACCATGATGAGCT	0.363		NaN											0	0	0	1	0	16	8				
VDAC1	7416	broad.mit.edu	37	5	133326826	133326826	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:133326826G>A	uc003kyp.1	-	4	236	c.137C>T	c.(136-138)TCA>TTA	p.S46L	VDAC1_uc003kyq.1_Missense_Mutation_p.S46L|VDAC1_uc003kyr.1_Missense_Mutation_p.S46L	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	46	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AGTGTTGGCTGAGCCTGAGCT	0.478		NaN											0	0	0	1	0	27	84				
PCDHA5	56143	broad.mit.edu	37	5	140201632	140201632	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:140201632G>A	uc003lhl.2	+	1	272	c.272G>A	c.(271-273)CGG>CAG	p.R91Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R91Q|PCDHA5_uc003lhj.1_Missense_Mutation_p.R91Q	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	91	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622		NaN											0	0	0	1	0	13	243				
SIRT5	23408	broad.mit.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:13588578G>A	uc003nay.2	+	4	427	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	SIRT5_uc003naw.2_Missense_Mutation_p.R44Q|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.R44Q	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	44	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCAGATTTTCGAAAGTTTTTT	0.403		NaN											0	0	0	1	0	35	32				
DEF6	50619	broad.mit.edu	37	6	35287672	35287672	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:35287672G>A	uc003okk.2	+	9	1498	c.1459G>A	c.(1459-1461)GCG>ACG	p.A487T	DEF6_uc010jvs.2_Missense_Mutation_p.A462T|DEF6_uc010jvt.2_Missense_Mutation_p.A232T	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	487	Glu-rich.					cytoplasm|nucleus|plasma membrane					0						CATCGAACGGGCGCAGCAGGA	0.617		NaN											0	0	0	1	0	4	5				
XPO5	57510	broad.mit.edu	37	6	43495459	43495459	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:43495459C>T	uc003ovp.2	-	26	3044	c.2833G>A	c.(2833-2835)GAG>AAG	p.E945K	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	945					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGCAGCCTCATCTTCTCCA	0.507		NaN											0	0	0	1	0	35	44				
LMBRD1	55788	broad.mit.edu	37	6	70447864	70447864	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:70447864C>G	uc003pfa.2	-	7	721	c.606G>C	c.(604-606)TTG>TTC	p.L202F	LMBRD1_uc003pey.2_5'UTR|LMBRD1_uc003pez.2_Missense_Mutation_p.L129F|LMBRD1_uc010kal.2_Missense_Mutation_p.L129F|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	202	Helical; Name=5; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						ACATTCCAATCAAGGTCAGAG	0.289		NaN											0	0	0	1	0	12	13				
MDN1	23195	broad.mit.edu	37	6	90421882	90421882	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:90421882G>A	uc003pnn.1	-	49	7640	c.7524C>T	c.(7522-7524)TAC>TAT	p.Y2508Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2508					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCGATCCAGTAAGTATTCA	0.408		NaN											0	0	0	1	0	94	115				
KPNA5	3841	broad.mit.edu	37	6	117045538	117045538	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:117045538G>A	uc003pxh.2	+	10	1130	c.999G>A	c.(997-999)CAG>CAA	p.Q333Q		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	330	NLS binding site (minor) (By similarity).|ARM 7.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCAAACACAGGTGAGTTCAA	0.279		NaN											0	0	0	1	0	14	30				
DNAH11	8701	broad.mit.edu	37	7	21751477	21751477	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:21751477C>A	uc003svc.2	+	43	7034	c.7003C>A	c.(7003-7005)CCG>ACG	p.P2335T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2335	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GGGCTGGAATCCGTGAGTATT	0.279		NaN							Kartagener_syndrome				1	0	3.32936e-07	1	3.38846e-07	19	17				
FZD9	8326	broad.mit.edu	37	7	72848451	72848451	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:72848451G>A	uc003tyb.2	+	1	343	c.114G>A	c.(112-114)CCG>CCA	p.P38P		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	38	FZ.|Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCTGCGCCGTGCCAGGCGG	0.761		NaN											0	0	0	1	0	20	17				
ZNF277	11179	broad.mit.edu	37	7	111981066	111981066	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:111981066G>A	uc003vge.2	+	11	1278	c.1149G>A	c.(1147-1149)TCG>TCA	p.S383S	ZNF277_uc003vgf.2_Silent_p.S305S|ZNF277_uc003vgg.2_Silent_p.S208S	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277	383						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4						AACACACTTCGCTGCTCCCCG	0.423		NaN											0	0	0	1	0	44	50				
ARHGEF5	7984	broad.mit.edu	37	7	144077079	144077079	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:144077079G>A	uc003wel.2	+	15	4842	c.4724G>A	c.(4723-4725)CGT>CAT	p.R1575H	ARHGEF5_uc003wem.2_Missense_Mutation_p.R376H	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1575					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					CCAGAGGTCCGTGCACAGAAC	0.572		NaN											0	0	0	1	0	88	106				
CNTNAP2	26047	broad.mit.edu	37	7	147844772	147844772	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:147844772G>A	uc003weu.1	+	17	3260	c.2744G>A	c.(2743-2745)CGC>CAC	p.R915H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	915	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCACACCCGCCTGGAGCTC	0.522		NaN								HNSCC(39;0.1)			0	0	0	1	0	55	53				
ADRA1A	148	broad.mit.edu	37	8	26627912	26627912	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:26627912G>T	uc003xfh.1	-	2	1591	c.1155C>A	c.(1153-1155)TTC>TTA	p.F385L	ADRA1A_uc003xfc.1_Missense_Mutation_p.F385L|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.F385L|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.F385L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	385	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGATCCTGTAGAAGGTCTCTC	0.557		NaN											1	0	3.33393e-45	1	3.49656e-45	106	118				
NKX6-3	157848	broad.mit.edu	37	8	41504183	41504183	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:41504183G>A	uc003xoa.2	-	2	197	c.193C>T	c.(193-195)CGG>TGG	p.R65W	NKX6-3_uc010lxa.1_Missense_Mutation_p.R65W	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	195	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCTTCTTCCGCCACTTGGTC	0.572		NaN											0	0	0	1	0	5	9				
CHD7	55636	broad.mit.edu	37	8	61712986	61712986	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:61712986A>G	uc003xue.2	+	5	2755	c.2278A>G	c.(2278-2280)ACT>GCT	p.T760A		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	760					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGCGCTACACTGAAGACCT	0.453		NaN											0	0	0	1	0	21	21		Valid		
UBR5	51366	broad.mit.edu	37	8	103305851	103305851	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:103305851G>A	uc003ykr.1	-	34	4604	c.4571C>T	c.(4570-4572)TCA>TTA	p.S1524L	UBR5_uc003yks.1_Missense_Mutation_p.S1524L	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1524					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGATCAGATGATGGTCGTGG	0.443		NaN											0	0	0	1	0	36	64				
COL22A1	169044	broad.mit.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:139606405C>T	uc003yvd.2	-	63	4917	c.4470G>A	c.(4468-4470)GCG>GCA	p.A1490A	COL22A1_uc011ljo.1_Silent_p.A770A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602		NaN								HNSCC(7;0.00092)			0	0	0	1	0	40	59				
KANK1	23189	broad.mit.edu	37	9	734746	734746	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:734746A>G	uc003zgl.1	+	11	3895	c.3246_splice	c.e11-2	p.R1082_splice	KANK1_uc003zgn.1_Splice_Site_p.R1082_splice|KANK1_uc003zgs.1_Splice_Site_p.R924_splice|KANK1_uc010mgx.1_Splice_Site_p.R37_splice|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a						negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTCTCCTTTCAGGTATGAATT	0.284		NaN											0	0	0	1	0	38	29				
SLC24A2	25769	broad.mit.edu	37	9	19573435	19573435	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:19573435C>T	uc003zoa.1	-	6	1323	c.1261G>A	c.(1261-1263)GAT>AAT	p.D421N	SLC24A2_uc003zob.1_Missense_Mutation_p.D404N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	421	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTTCAACATCTGTGCTGGTG	0.303		NaN											0	0	0	1	0	48	16				
VCP	7415	broad.mit.edu	37	9	35061086	35061086	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:35061086G>A	uc003zvy.2	-	11	1674	c.1285C>T	c.(1285-1287)CTC>TTC	p.L429F	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.L98F|VCP_uc010mki.1_Missense_Mutation_p.L384F	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	429					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGTCAATGAGATCCATCTTC	0.537		NaN											0	0	0	1	0	139	131				
RG9MTD3	158234	broad.mit.edu	37	9	37768130	37768130	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:37768130G>C	uc004aai.2	+	5	555	c.478G>C	c.(478-480)GAC>CAC	p.D160H	RG9MTD3_uc011lqo.1_Intron|RG9MTD3_uc011lqp.1_Missense_Mutation_p.D82H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.D49H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.D65H	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	160							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CAAAAAAGCTGACAGGCCATT	0.413		NaN											0	0	0	1	0	77	100				
XPA	7507	broad.mit.edu	37	9	100459547	100459547	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:100459547C>T	uc004axr.3	-	1	145	c.28G>A	c.(28-30)GAG>AAG	p.E10K	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	10	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				GCCGCCGCCTCCGGCAAAGCC	0.736		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				0	0	0	1	0	21	20				
SPTAN1	6709	broad.mit.edu	37	9	131379944	131379944	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379944G>C	uc004bvl.3	+	41	5481	c.5368G>C	c.(5368-5370)GAG>CAG	p.E1790Q	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1795Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1770Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1790	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGTGGGCTCAGAGGACTACGG	0.572		NaN											0	0	0	1	0	27	6				
SPTAN1	6709	broad.mit.edu	37	9	131379988	131379988	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379988G>T	uc004bvl.3	+	41	5525	c.5412G>T	c.(5410-5412)AAG>AAT	p.K1804N	SPTAN1_uc004bvm.3_Missense_Mutation_p.K1809N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1784N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1804	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ACCTGAGGAAGAAGCACAAGC	0.597		NaN											1	0	3.76604e-16	1	3.87879e-16	39	8				
SPTAN1	6709	broad.mit.edu	37	9	131380380	131380380	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131380380G>T	uc004bvl.3	+	42	5691	c.5578G>T	c.(5578-5580)GCT>TCT	p.A1860S	SPTAN1_uc004bvm.3_Missense_Mutation_p.A1865S|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1840S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1860	Spectrin 19.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GCAGCTGGCAGCTGCCCGGTG	0.612		NaN											1	0	6.04917e-29	1	6.26782e-29	43	4				
SPTAN1	6709	broad.mit.edu	37	9	131381226	131381226	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381226G>A	uc004bvl.3	+	43	5775	c.5662G>A	c.(5662-5664)GAG>AAG	p.E1888K	SPTAN1_uc004bvm.3_Missense_Mutation_p.E1893K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1868K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1888	Spectrin 20.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CTGGATCAATGAGAAAATGAC	0.498		NaN											0	0	0	1	0	37	6				
TOR1B	27348	broad.mit.edu	37	9	132565654	132565654	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565654G>A	uc004byk.1	+	1	223	c.163G>A	c.(163-165)GAG>AAG	p.E55K		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	55					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				CCGCTTCGCCGAGTGCTGCCG	0.602		NaN											0	0	0	1	0	21	2				
TOR1B	27348	broad.mit.edu	37	9	132565666	132565666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565666G>A	uc004byk.1	+	1	235	c.175G>A	c.(175-177)GAG>AAG	p.E59K		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	59					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				GTGCTGCCGCGAGGAGCGGCC	0.602		NaN											0	0	0	1	0	20	3				
ZCCHC5	203430	broad.mit.edu	37	X	77912861	77912861	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:77912861C>T	uc004edc.1	-	2	1353	c.1057G>A	c.(1057-1059)GAT>AAT	p.D353N		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	353							nucleic acid binding|zinc ion binding			ovary(1)	1						GTGCTTTCATCCCAGTTCAGC	0.473		NaN											0	0	0	1	0	20	3				
PABPC5	140886	broad.mit.edu	37	X	90691635	90691635	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:90691635G>A	uc004efg.2	+	2	1499	c.1059G>A	c.(1057-1059)GAG>GAA	p.E353E	PABPC5_uc004eff.1_Silent_p.E189E	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	353	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CTTTTGAAGAGGCTACCAAAG	0.517		NaN											0	0	0	1	0	29	2				
RGAG1	57529	broad.mit.edu	37	X	109697193	109697193	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:109697193A>G	uc004eor.1	+	3	3594	c.3348A>G	c.(3346-3348)GGA>GGG	p.G1116G	RGAG1_uc011msr.1_Silent_p.G1116G	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1116										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAGCCTCTGGATCAAAGCCCA	0.527		NaN											0	0	0	1	0	110	8				
HTR2C	3358	broad.mit.edu	37	X	114141244	114141244	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:114141244G>A	uc004epu.1	+	6	1371	c.643G>A	c.(643-645)GTT>ATT	p.V215I	HTR2C_uc010nqc.1_Missense_Mutation_p.V215I|HTR2C_uc004epv.1_Missense_Mutation_p.R183H	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	215	Helical; Name=5; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCCAAATTTCGTTCTTATTGG	0.468		NaN											0	0	0	1	0	191	15				
CLCNKB	1188	broad.mit.edu	37	1	16375654	16375654	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:16375654C>G	uc001axw.3	+	8	775	c.695C>G	c.(694-696)TCT>TGT	p.S232C	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.S232C|CLCNKB_uc001axy.3_Missense_Mutation_p.S63C	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCACTTCTCTGTCTGGGAT	0.637		NaN											0	0	0	0.134883	0	27	66				
ALDH4A1	8659	broad.mit.edu	37	1	19204070	19204070	+	Missense_Mutation	SNP	G	G	A	rs139430775		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:19204070G>A	uc001bbb.2	-	10	1253	c.977C>T	c.(976-978)TCG>TTG	p.S326L	ALDH4A1_uc010ocu.1_Missense_Mutation_p.S266L|ALDH4A1_uc001bbc.2_Missense_Mutation_p.S326L	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	326					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CACGTCGGCCGAGCGGTGCAC	0.672		NaN											0	0	0	0.009096	0	3	19				
GRHL3	57822	broad.mit.edu	37	1	24664503	24664503	+	Missense_Mutation	SNP	G	G	A	rs141594535		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:24664503G>A	uc001biy.2	+	7	923	c.877G>A	c.(877-879)GAC>AAC	p.D293N	GRHL3_uc001bix.2_Missense_Mutation_p.D288N|GRHL3_uc001biz.2_Missense_Mutation_p.D195N	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	288					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGTTGTCTTCGACAATGAGAA	0.572		NaN											0	0	0	0.117977	0	35	69				
GPN2	54707	broad.mit.edu	37	1	27216470	27216470	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:27216470C>T	uc001bnd.1	-	1	400	c.118G>A	c.(118-120)GTG>ATG	p.V40M		NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	ATP binding domain 1 family, member B	40							GTP binding				0						ACCACCGCCACGCGCCGGCCC	0.721		NaN											0	0	0	0.009096	0	3	12				
CSMD2	114784	broad.mit.edu	37	1	34208906	34208906	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:34208906C>T	uc001bxn.1	-	14	2057	c.2028G>A	c.(2026-2028)AAG>AAA	p.K676K	CSMD2_uc001bxm.1_Silent_p.K716K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	676	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAGCCCCTCTTCCCTGTGG	0.582		NaN											0	0	0	0.02938	0	5	20				
MTF1	4520	broad.mit.edu	37	1	38289456	38289456	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:38289456G>A	uc001cce.1	-	8	1238	c.1097C>T	c.(1096-1098)TCA>TTA	p.S366L	MTF1_uc009vvj.1_Missense_Mutation_p.S57L	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	366						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GATTGCTGGTGAAATTGTGCT	0.438		NaN											0	0	0	0.069288	0	18	34				
RHBDL2	54933	broad.mit.edu	37	1	39384795	39384795	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:39384795C>T	uc001ccu.1	-	2	318	c.90G>A	c.(88-90)ATG>ATA	p.M30I	RHBDL2_uc010oin.1_Missense_Mutation_p.M30I|RHBDL2_uc010oio.1_Missense_Mutation_p.M110I|RHBDL2_uc001ccv.2_Missense_Mutation_p.M30I	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	30					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CATCCTCTCTCATTTTCTCCT	0.488		NaN											0	0	0	0.134883	0	27	91				
CYP4A22	284541	broad.mit.edu	37	1	47603168	47603168	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:47603168C>G	uc001cqv.1	+	1	62	c.11C>G	c.(10-12)TCT>TGT	p.S4C	CYP4A22_uc009vyo.2_Missense_Mutation_p.S4C|CYP4A22_uc009vyp.2_Missense_Mutation_p.S4C	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	4						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						ATGAGTGTCTCTGTCCTGAGC	0.597		NaN											0	0	0	0.125774	0	28	70				
LRRC7	57554	broad.mit.edu	37	1	70504238	70504238	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:70504238G>A	uc001dep.2	+	19	2647	c.2617G>A	c.(2617-2619)GAA>AAA	p.E873K	LRRC7_uc009wbg.2_Missense_Mutation_p.E157K|LRRC7_uc001deq.2_Missense_Mutation_p.E114K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	873						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCATTGCCTGAAAGGAAAGA	0.458		NaN											0	0	0	0.139131	0	35	63				
CCDC18	343099	broad.mit.edu	37	1	93680450	93680450	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:93680450G>C	uc001dpq.2	+	12	2168	c.2000G>C	c.(1999-2001)AGA>ACA	p.R667T	CCDC18_uc009wdl.1_Missense_Mutation_p.R228T	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	548	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATGGCTCACAGAACTAGTCAG	0.383		NaN											0	0	0	0.058154	0	8	14				
PDE4DIP	9659	broad.mit.edu	37	1	144879256	144879256	+	Silent	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:144879256C>A	uc001elw.3	-	27	4485	c.4194G>T	c.(4192-4194)CTG>CTT	p.L1398L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1354L|PDE4DIP_uc001elv.3_Silent_p.L405L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1398					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537		NaN	T	PDGFRB	MPD								1	0	1.00905e-13	0.049695	1.09023e-13	19	102				
PDE4DIP	9659	broad.mit.edu	37	1	144882724	144882724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:144882724G>A	uc001elw.3	-	24	3586	c.3295C>T	c.(3295-3297)CAG>TAG	p.Q1099*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.Q106*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1099	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AACTCAGCCTGAAGGCTACTC	0.483		NaN	T	PDGFRB	MPD								0	0	0	0.139131	0	38	208				
RPRD2	23248	broad.mit.edu	37	1	150444774	150444774	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:150444774G>A	uc009wlr.2	+	11	3551	c.3350G>A	c.(3349-3351)AGA>AAA	p.R1117K	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1091K	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1117							protein binding			ovary(1)	1						AAGGGAAATAGAGGACATGGG	0.522		NaN											0	0	0	0.038147	0	6	19				
HORMAD1	84072	broad.mit.edu	37	1	150679139	150679139	+	Nonsense_Mutation	SNP	G	G	A	rs150156011		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:150679139G>A	uc001evk.1	-	10	800	c.694C>T	c.(694-696)CGA>TGA	p.R232*	HORMAD1_uc001evl.1_Nonsense_Mutation_p.R225*|HORMAD1_uc001evm.1_Nonsense_Mutation_p.R152*	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	232					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTTTCCATTCGTTCTCTCTCA	0.353		NaN											0	0	0	0.076483	0	18	64				
CELF3	11189	broad.mit.edu	37	1	151678328	151678328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:151678328C>T	uc001eys.1	-	11	2034	c.1240G>A	c.(1240-1242)GAC>AAC	p.D414N	CELF3_uc010pdh.1_Missense_Mutation_p.D200N|CELF3_uc001eyr.2_Missense_Mutation_p.D413N|CELF3_uc009wmy.2_Missense_Mutation_p.D364N|CELF3_uc009wmx.1_Missense_Mutation_p.D413N	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	414	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						GTGGCTCGGTCAACAAAGACT	0.438		NaN											0	0	0	0.132662	0	13	30				
TCHH	7062	broad.mit.edu	37	1	152080269	152080269	+	Silent	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:152080269T>C	uc001ezp.2	-	2	5424	c.5424A>G	c.(5422-5424)GAA>GAG	p.E1808E	TCHH_uc009wne.1_Silent_p.E1808E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1808	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTTCTTCCCTCTCCT	0.597		NaN											0	0	0	0.009096	0	3	72				
IL6R	3570	broad.mit.edu	37	1	154420627	154420627	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:154420627G>A	uc001fez.1	+	7	1413	c.976G>A	c.(976-978)GAG>AAG	p.E326K	IL6R_uc001ffa.1_Missense_Mutation_p.E326K	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	326	Extracellular (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGAGAACGAGGTGTCCAC	0.463		NaN											0	0	0	0.139131	0	38	64				
RXRG	6258	broad.mit.edu	37	1	165398029	165398029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:165398029G>T	uc001gda.2	-	2	524	c.224C>A	c.(223-225)TCT>TAT	p.S75Y		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	75	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCCCATGGCAGAGGTGATGAC	0.602		NaN											1	0	4.63292e-17	0.049695	5.06389e-17	18	28				
C1orf116	79098	broad.mit.edu	37	1	207196604	207196604	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:207196604C>T	uc001hfd.2	-	4	764	c.505G>A	c.(505-507)GAG>AAG	p.E169K	C1orf116_uc009xcb.1_5'UTR	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	169						cytoplasm|plasma membrane	receptor activity	p.E169E(1)		skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					TGTTCTTTCTCAGGCTCTGGC	0.602		NaN											0	0	0	0.083992	0	25	33				
ARID4B	51742	broad.mit.edu	37	1	235331917	235331917	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:235331917C>T	uc001hwq.2	-	24	4360	c.3862G>A	c.(3862-3864)GCT>ACT	p.A1288T	ARID4B_uc001hwr.2_Missense_Mutation_p.A1202T|ARID4B_uc001hwp.2_RNA	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1288	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATAACAGCAGCTGTTATGGAA	0.428		NaN											0	0	0	0.146539	0	14	28				
ZNF695	57116	broad.mit.edu	37	1	247151490	247151490	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr1:247151490C>T	uc009xgu.2	-	4	472	c.327G>A	c.(325-327)GTG>GTA	p.V109V	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.V109V|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Silent_p.V97V	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	109					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCAGCATCACTTTTTGGA	0.373		NaN											0	0	0	0.0918	0	27	54				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:37430948C>G	uc001iza.1	+	7	1054	c.955C>G	c.(955-957)CCA>GCA	p.P319A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGCCAGCAAAAGG	0.423		NaN											0	0	0	0.014758	0	3	75				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:37431050G>C	uc001iza.1	+	7	1156	c.1057G>C	c.(1057-1059)GCA>CCA	p.A353P		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGGCAGCAAAAGG	0.408		NaN											0	0	0	0.021553	0	4	69				
GDF2	2658	broad.mit.edu	37	10	48414156	48414156	+	Missense_Mutation	SNP	C	C	T	rs137873272		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:48414156C>T	uc001jfa.1	-	2	875	c.712G>A	c.(712-714)GAC>AAC	p.D238N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	238					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						TCCAGCGTGTCGCAGCCCTTC	0.577		NaN											0	0	0	0.146539	0	14	21				
OGDHL	55753	broad.mit.edu	37	10	50952768	50952768	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:50952768C>T	uc001jie.2	-	13	1802	c.1660G>A	c.(1660-1662)GAG>AAG	p.E554K	OGDHL_uc009xog.2_Missense_Mutation_p.E581K|OGDHL_uc010qgt.1_Missense_Mutation_p.E497K|OGDHL_uc010qgu.1_Missense_Mutation_p.E345K|OGDHL_uc009xoh.2_Missense_Mutation_p.E345K	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	554					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TAAGCCTCCTCACAGATCCGG	0.542		NaN											0	0	0	0.0918	0	21	40				
TET1	80312	broad.mit.edu	37	10	70446167	70446167	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:70446167G>A	uc001jok.3	+	11	5612	c.5107G>A	c.(5107-5109)GAG>AAG	p.E1703K		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1703					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TCCTCAAGATGAGCAGCTCCA	0.453		NaN											0	0	0	0.099896	0	22	53				
HKDC1	80201	broad.mit.edu	37	10	71008378	71008378	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:71008378G>A	uc001jpf.3	+	10	1597	c.1464G>A	c.(1462-1464)CAG>CAA	p.Q488Q	HKDC1_uc010qje.1_Silent_p.Q351Q	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	488					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TGGACGTGCAGGCCAAGATGC	0.667		NaN											0	0	0	0.069234	0	9	15				
FGF8	2253	broad.mit.edu	37	10	103534601	103534601	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:103534601G>C	uc001ktp.1	-	4	362	c.192C>G	c.(190-192)CTC>CTG	p.L64L	FGF8_uc001ktq.1_Silent_p.L75L|FGF8_uc001ktr.1_Silent_p.L46L|FGF8_uc001kts.1_Silent_p.L35L|FGF8_uc009xwr.1_5'UTR	NM_033164	NP_149354	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform E precursor	64					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GGCGGCGGCTGAGCTGATCCG	0.542		NaN											0	0	0	0.069234	0	10	19				
C10orf79	80217	broad.mit.edu	37	10	105903255	105903255	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:105903255C>T	uc001kxw.2	-	32	4203	c.4087G>A	c.(4087-4089)GAA>AAA	p.E1363K	C10orf79_uc009xxq.2_Missense_Mutation_p.E642K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1363											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TCCAAGCCTTCTGGCATGTTA	0.383		NaN											0	0	0	0.108266	0	22	53				
SORCS3	22986	broad.mit.edu	37	10	106960946	106960946	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:106960946G>A	uc001kyi.1	+	16	2423	c.2196G>A	c.(2194-2196)CTG>CTA	p.L732L	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	732	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTGTGCCCTGGGCCGAGACC	0.488		NaN											0	0	0	0.0918	0	22	45				
SORCS1	114815	broad.mit.edu	37	10	108371675	108371675	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:108371675C>T	uc001kym.2	-	22	3035	c.3027G>A	c.(3025-3027)CTG>CTA	p.L1009L	SORCS1_uc001kyl.2_Silent_p.L1009L|SORCS1_uc009xxs.2_Silent_p.L1009L|SORCS1_uc001kyn.1_Silent_p.L1009L|SORCS1_uc001kyo.2_Silent_p.L1009L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1009	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCACTTCCACCAGGGATTTTT	0.483		NaN											0	0	0	0.02938	0	6	23				
SORCS1	114815	broad.mit.edu	37	10	108923757	108923757	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:108923757G>T	uc001kym.2	-	1	536	c.528C>A	c.(526-528)GCC>GCA	p.A176A	SORCS1_uc001kyl.2_Silent_p.A176A|SORCS1_uc009xxs.2_Silent_p.A176A|SORCS1_uc001kyn.1_Silent_p.A176A|SORCS1_uc001kyo.2_Silent_p.A176A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	176	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGTGGACCATGGCTTGGTTGT	0.582		NaN											1	0	2.89027e-11	0.069288	3.09907e-11	19	36				
SMC3	9126	broad.mit.edu	37	10	112349666	112349666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:112349666G>A	uc001kze.2	+	15	1552	c.1426G>A	c.(1426-1428)GAG>AAG	p.E476K		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	476	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGGAGAGAAGAGAATGCAGA	0.358		NaN											0	0	0	0.144211	0	22	41				
WDR11	55717	broad.mit.edu	37	10	122648591	122648591	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:122648591G>A	uc010qtf.1	+	17	2361	c.2123G>A	c.(2122-2124)GGA>GAA	p.G708E	WDR11_uc010qte.1_Missense_Mutation_p.G310E|WDR11_uc001lfd.1_Missense_Mutation_p.G226E|WDR11_uc009xzn.2_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	708	WD 6.					integral to membrane					0						GTTTTCTAGGGAAGTATGGGT	0.313		NaN											0	0	0	0.069456	0	30	57				
C10orf93	255352	broad.mit.edu	37	10	134750515	134750515	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr10:134750515C>G	uc001llt.1	-	7	781	c.705G>C	c.(703-705)AAG>AAC	p.K235N		NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	235							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TGGAATTTTTCTTTTCTTCCT	0.274		NaN											0	0	0	0.014758	0	4	13				
DKK3	27122	broad.mit.edu	37	11	11986170	11986170	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:11986170G>A	uc001mju.2	-	7	951	c.894C>T	c.(892-894)ATC>ATT	p.I298I	DKK3_uc010rcf.1_Silent_p.I270I|DKK3_uc001mjv.2_Silent_p.I298I|DKK3_uc001mjw.2_Silent_p.I298I|DKK3_uc010rcg.1_Silent_p.I312I	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	298					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TGGGCAGCAGGATCTCCCCAT	0.597		NaN											0	0	0	0.055883	0	19	13				
P2RX3	5024	broad.mit.edu	37	11	57135555	57135555	+	Silent	SNP	C	C	T	rs150261482		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:57135555C>T	uc001nju.2	+	9	991	c.915C>T	c.(913-915)TTC>TTT	p.F305F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	305	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GCATCCGCTTCGACGTGCTGG	0.567		NaN											0	0	0	0.0333	0	12	76				
SLC43A3	29015	broad.mit.edu	37	11	57188794	57188794	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:57188794G>A	uc001nkg.2	-	6	824	c.414C>T	c.(412-414)ATC>ATT	p.I138I	PRG2_uc001nke.2_Silent_p.I37I|SLC43A3_uc001nkh.2_Silent_p.I138I|SLC43A3_uc010rjr.1_Silent_p.I151I|SLC43A3_uc009yme.2_Silent_p.I138I|SLC43A3_uc001nki.2_Silent_p.I138I|SLC43A3_uc009ymf.1_Silent_p.I138I|SLC43A3_uc010rjs.1_Silent_p.I138I|SLC43A3_uc009ymg.1_Silent_p.I151I	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	138	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1						TGAGAAACAGGATTCCCCCAA	0.562		NaN											0	0	0	0.0333	0	16	24				
AHNAK	79026	broad.mit.edu	37	11	62297946	62297946	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:62297946C>T	uc001ntl.2	-	5	4243	c.3943G>A	c.(3943-3945)GAG>AAG	p.E1315K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1315					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAGTGCATCTCAGGCATCTTA	0.522		NaN											0	0	0	0.047766	0	8	186				
POLD3	10714	broad.mit.edu	37	11	74340342	74340342	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:74340342C>G	uc001ovf.1	+	9	1055	c.980C>G	c.(979-981)CCT>CGT	p.P327R	POLD3_uc009yua.1_Missense_Mutation_p.P221R	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	327					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					ATCAAACTTCCTGAATCTGAT	0.388		NaN											0	0	0	0.014758	0	4	72				
FOLH1B	219595	broad.mit.edu	37	11	89405073	89405073	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:89405073G>A	uc001pda.2	+	5	726	c.200G>A	c.(199-201)GGA>GAA	p.G67E		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	67					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GTCATTCTGGGAGGTCACCGG	0.408		NaN											0	0	0	0.045705	0	17	60				
UBE4A	9354	broad.mit.edu	37	11	118257262	118257262	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:118257262A>G	uc001psw.2	+	16	2651	c.2522A>G	c.(2521-2523)CAG>CGG	p.Q841R	UBE4A_uc001psv.2_Missense_Mutation_p.Q848R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	841					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGTTTGGACAGCTGGCACGT	0.468		NaN											0	0	0	0.139131	0	48	154				
CDON	50937	broad.mit.edu	37	11	125889642	125889642	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:125889642G>A	uc009zbw.2	-	4	496	c.368C>T	c.(367-369)TCA>TTA	p.S123L	CDON_uc001qdc.3_Missense_Mutation_p.S123L|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.S123L	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	123	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTTGTGGATGAACCAAAATC	0.353		NaN											0	0	0	0.132662	0	13	30				
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Silent	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:11506602T>C	uc001qzw.1	-	3	472	c.435A>G	c.(433-435)GGA>GGG	p.G145G	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607		NaN											0	0	0	0.09319	0	10	218				
ATF7IP	55729	broad.mit.edu	37	12	14649244	14649244	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:14649244C>T	uc001rbw.2	+	14	3518	c.3360C>T	c.(3358-3360)CTC>CTT	p.L1120L	ATF7IP_uc001rbx.2_Silent_p.L1119L|ATF7IP_uc001rby.3_Silent_p.L1120L|ATF7IP_uc001rca.2_Silent_p.L1120L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1120					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GACCTCAGCTCACAGTGCATC	0.393		NaN											0	0	0	0.099896	0	20	38				
HIST4H4	121504	broad.mit.edu	37	12	14923749	14923749	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:14923749C>T	uc001rcf.3	-	1	317	c.270G>A	c.(268-270)GCG>GCA	p.A90A	HIST4H4_uc001rce.2_RNA	NM_175054	NP_778224	P62805	H4_HUMAN	histone cluster 4, H4	90					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						GGCGTTTCAGCGCGTACACCA	0.582		NaN									OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	52	46				
PKP2	5318	broad.mit.edu	37	12	33021978	33021978	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:33021978C>T	uc001rlj.3	-	4	1168	c.1053G>A	c.(1051-1053)ATG>ATA	p.M351I	PKP2_uc001rlk.3_Missense_Mutation_p.M351I|PKP2_uc010skj.1_Missense_Mutation_p.M351I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	351	ARM 1.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTCCAGAGTCATCTCCATGT	0.527		NaN											0	0	0	0.139131	0	59	54				
MLL2	8085	broad.mit.edu	37	12	49435941	49435941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:49435941G>A	uc001rta.3	-	28	6040	c.6040C>T	c.(6040-6042)CAG>TAG	p.Q2014*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2014					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GTGGACAGCTGGCCCAACTCC	0.577		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.105934	0	11	13		Valid		
SPRYD3	84926	broad.mit.edu	37	12	53460407	53460407	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:53460407A>T	uc001sbt.1	-	9	992	c.971T>A	c.(970-972)ATC>AAC	p.I324N	SPRYD3_uc010snw.1_Missense_Mutation_p.I150N	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	324										central_nervous_system(1)	1						ACAGCCCATGATGTCCCCTTT	0.587		NaN									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.069234	0	9	19				
PAN2	9924	broad.mit.edu	37	12	56720165	56720165	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:56720165G>C	uc001skx.2	-	8	1664	c.1291C>G	c.(1291-1293)CTG>GTG	p.L431V	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.L431V|PAN2_uc001sky.2_Missense_Mutation_p.L431V	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	431					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						ATGGTGCGCAGAATCTCTGCA	0.572		NaN											0	0	0	0.021553	0	4	17				
PLXNC1	10154	broad.mit.edu	37	12	94658921	94658921	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:94658921G>A	uc001tdc.2	+	21	3766	c.3517G>A	c.(3517-3519)GTG>ATG	p.V1173M	PLXNC1_uc010sut.1_Missense_Mutation_p.V220M|PLXNC1_uc009zsv.2_Translation_Start_Site	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1173	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						CAAGGGTCCCGTGGATGTAAT	0.448		NaN											0	0	0	0.139131	0	109	139				
ANO4	121601	broad.mit.edu	37	12	101442180	101442180	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:101442180G>A	uc010svm.1	+	14	1884	c.1312_splice	c.e14+1	p.A438_splice	ANO4_uc001thw.2_Splice_Site_p.A403_splice|ANO4_uc001thx.2_Splice_Site_p.A438_splice|ANO4_uc001thy.2_Splice_Site_p.A5_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GCAGTCTGGGGTAAGTGTTCT	0.373		NaN								HNSCC(74;0.22)			0	0	0	0.038395	0	13	39				
MYBPC1	4604	broad.mit.edu	37	12	102069129	102069129	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr12:102069129C>G	uc001tii.2	+	25	2950	c.2848C>G	c.(2848-2850)CTC>GTC	p.L950V	MYBPC1_uc001tig.2_Missense_Mutation_p.L957V|MYBPC1_uc010svq.1_Missense_Mutation_p.L919V|MYBPC1_uc001tih.2_Missense_Mutation_p.L957V|MYBPC1_uc001tij.2_Missense_Mutation_p.L932V|MYBPC1_uc010svr.1_Missense_Mutation_p.L932V|MYBPC1_uc010svs.1_Missense_Mutation_p.L950V|MYBPC1_uc010svt.1_Missense_Mutation_p.L920V|MYBPC1_uc010svu.1_Missense_Mutation_p.L913V|MYBPC1_uc001tik.2_Missense_Mutation_p.L906V|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	950	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						AAATGTCGCTCTCACATGGAC	0.478		NaN											0	0	0	0.146539	0	17	39				
FREM2	341640	broad.mit.edu	37	13	39266378	39266378	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:39266378G>A	uc001uwv.2	+	1	5206	c.4897G>A	c.(4897-4899)GAT>AAT	p.D1633N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1633	Extracellular (Potential).|CSPG 11.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTTTTCCTGATACGGTGTT	0.458		NaN											0	0	0	0.0333	0	16	42				
KIAA1704	55425	broad.mit.edu	37	13	45580434	45580434	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:45580434C>G	uc001uzq.2	+	3	422	c.319C>G	c.(319-321)CCA>GCA	p.P107A	KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.P107A|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	107										pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TGATTCTCCTCCAAGGTGATA	0.279		NaN											0	0	0	0.139131	0	39	124				
ATP7B	540	broad.mit.edu	37	13	52544680	52544680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:52544680C>T	uc001vfw.2	-	3	1648	c.1491G>A	c.(1489-1491)ATG>ATA	p.M497I	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.M497I|ATP7B_uc001vfy.2_Missense_Mutation_p.M386I|ATP7B_uc010tgt.1_Missense_Mutation_p.M497I|ATP7B_uc010tgu.1_Missense_Mutation_p.M497I|ATP7B_uc010tgv.1_Missense_Mutation_p.M497I|ATP7B_uc010tgw.1_Missense_Mutation_p.M465I	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	497	HMA 5.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATGCACAGGTCATGCCTTTGA	0.502		NaN							Wilson_disease				0	0	0	0.139131	0	63	106				
MYCBP2	23077	broad.mit.edu	37	13	77656085	77656085	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:77656085G>A	uc001vkf.2	-	65	11057	c.10966C>T	c.(10966-10968)CAT>TAT	p.H3656Y	MYCBP2_uc010aev.2_Missense_Mutation_p.H3060Y|MYCBP2_uc001vke.2_Missense_Mutation_p.H276Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGCTCTGATGAAGGAACTGG	0.363		NaN											0	0	0	0.076483	0	23	31				
GPC6	10082	broad.mit.edu	37	13	94958333	94958333	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:94958333G>C	uc001vlt.2	+	6	1740	c.1108G>C	c.(1108-1110)GAG>CAG	p.E370Q	GPC6_uc010tig.1_Missense_Mutation_p.E370Q	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	370						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTACAATCCTGAGGAAAGACC	0.502		NaN											0	0	0	0.076483	0	19	34				
RASA3	22821	broad.mit.edu	37	13	114758015	114758015	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr13:114758015C>T	uc001vui.2	-	22	2322	c.2191G>A	c.(2191-2193)GAG>AAG	p.E731K	RASA3_uc010tkk.1_Missense_Mutation_p.E699K|RASA3_uc001vuj.2_Missense_Mutation_p.E348K	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	731					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TAGATACGCTCCGTCTCACGG	0.527		NaN											0	0	0	0.043863	0	15	39				
RNASE13	440163	broad.mit.edu	37	14	21502251	21502251	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:21502251G>A	uc001vzj.2	-	2	335	c.197C>T	c.(196-198)TCA>TTA	p.S66L	NDRG2_uc010tll.1_Intron	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 precursor	66						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TGGGCAATCTGAATTTTGCAT	0.428		NaN											0	0	0	0.139131	0	44	37				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:23887583C>T	uc001wjx.2	-	30	4111	c.4005G>A	c.(4003-4005)TCG>TCA	p.S1335S	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662		NaN											0	0	0	0.02938	0	3	57				
TRIM9	114088	broad.mit.edu	37	14	51561204	51561204	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:51561204C>T	uc001wyx.3	-	1	1219	c.454G>A	c.(454-456)GAA>AAA	p.E152K	TRIM9_uc001wyy.2_Missense_Mutation_p.E152K|TRIM9_uc001wyz.3_Missense_Mutation_p.E152K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	152					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					ATTACCCCTTCCAGTACGCGA	0.642		NaN											0	0	0	0.021553	0	4	13				
DHRS7	51635	broad.mit.edu	37	14	60622822	60622822	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:60622822C>G	uc001xes.2	-	2	366	c.182G>C	c.(181-183)GGA>GCA	p.G61A	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.G11A|DHRS7_uc001xeu.2_Missense_Mutation_p.G61A	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	61	NAD (By similarity).						binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CTCACCAATTCCACTCGAGGC	0.463		NaN											0	0	0	0.054565	0	29	47				
PCNX	22990	broad.mit.edu	37	14	71445358	71445358	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:71445358C>T	uc001xmo.2	+	6	2750	c.2304C>T	c.(2302-2304)GTC>GTT	p.V768V	PCNX_uc001xmn.3_Silent_p.V768V|PCNX_uc010are.1_Silent_p.V768V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	768						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATGCAGTCAGTGGAGGTA	0.393		NaN											0	0	0	0.124865	0	35	45				
C14orf102	55051	broad.mit.edu	37	14	90778760	90778760	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:90778760G>C	uc001xyi.1	-	4	566	c.535C>G	c.(535-537)CTC>GTC	p.L179V	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_5'UTR	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	179	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CCTCGGTAGAGAGACTTGTAC	0.478		NaN											0	0	0	0.092188	0	31	82				
C14orf129	51527	broad.mit.edu	37	14	96852000	96852000	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:96852000G>C	uc001yfj.3	+	4	544	c.399G>C	c.(397-399)TTG>TTC	p.L133F	C14orf129_uc001yfl.2_Missense_Mutation_p.L133F	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	chromosome 14 open reading frame 129	133	Interaction with GSK3B.					cytoplasm	protein binding				0		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		TGGAAGCTTTGAAAAGAGATG	0.438		NaN											0	0	0	0.139131	0	66	62				
CYP46A1	10858	broad.mit.edu	37	14	100166436	100166436	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:100166436G>C	uc001ygo.2	+	5	441	c.441G>C	c.(439-441)CGG>CGC	p.R147R	CYP46A1_uc001ygn.1_Silent_p.R109R	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTTCAGCCGGAGGTGAGTGT	0.622		NaN											0	0	0	0.021553	0	5	24				
RAGE	5891	broad.mit.edu	37	14	102729905	102729905	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:102729905C>T	uc001ylm.2	-	4	487	c.261G>A	c.(259-261)ATG>ATA	p.M87I	RAGE_uc010txv.1_Missense_Mutation_p.M57I|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	87	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CATAAATATTCATGTCCATAA	0.308		NaN											0	0	0	0.132662	0	10	33				
TRAF3	7187	broad.mit.edu	37	14	103369714	103369714	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:103369714G>A	uc001ymc.1	+	11	1436	c.1083G>A	c.(1081-1083)GTG>GTA	p.V361V	TRAF3_uc001yme.1_Silent_p.V336V|TRAF3_uc001ymd.1_Silent_p.V361V|TRAF3_uc010txy.1_Silent_p.V278V|TRAF3_uc001ymf.1_Silent_p.V94V	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	361					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGAACCGCGTGACCGAGCTGG	0.652		NaN											0	0	0	0.11126	0	37	45				
KIF26A	26153	broad.mit.edu	37	14	104640516	104640516	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:104640516T>A	uc001yos.3	+	11	2062	c.2062T>A	c.(2062-2064)TCC>ACC	p.S688T		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	688					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGCGTGAATCCCTGGCCAC	0.687		NaN											0	0	0	0.021553	0	3	7				
AHNAK2	113146	broad.mit.edu	37	14	105409457	105409457	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr14:105409457C>T	uc010axc.1	-	7	12451	c.12331G>A	c.(12331-12333)GAT>AAT	p.D4111N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D4011N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4111						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCACACCATCCAGCTTTGCT	0.577		NaN											0	0	0	0.055883	0	17	332				
ATP10A	57194	broad.mit.edu	37	15	25959383	25959383	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:25959383C>T	uc010ayu.2	-	10	1888	c.1782G>A	c.(1780-1782)AGG>AGA	p.R594R		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	594	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAACCTCACCCTCACCTGCA	0.602		NaN											0	0	0	0.069288	0	19	26				
WDR72	256764	broad.mit.edu	37	15	54003115	54003115	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:54003115C>T	uc002acj.2	-	9	935	c.893G>A	c.(892-894)AGA>AAA	p.R298K	WDR72_uc010bfi.1_Missense_Mutation_p.R298K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	298										lung(1)|skin(1)	2				all cancers(107;0.0511)		TTTAAGCACTCTTCCATCAGC	0.388		NaN											0	0	0	0.045705	0	26	30				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:78290635C>T	uc002bcy.3	-	13	2759	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	TBC1D2B_uc010bla.2_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	920						intracellular	protein binding|Rab GTPase activator activity	p.D903N(1)		ovary(1)|large_intestine(1)|breast(1)	3						GTAGGCGCGTCGGTTCCGGAT	0.617		NaN											0	0	0	0.02938	0	4	15				
MEFV	4210	broad.mit.edu	37	16	3294272	3294272	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:3294272C>T	uc002cun.1	-	8	1781	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	581	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	ATTTCCATTTCTGAACGCAGG	0.522		NaN											0	0	0	0.116897	0	24	26				
CLEC16A	23274	broad.mit.edu	37	16	11076791	11076791	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:11076791G>T	uc002dao.2	+	10	1244	c.1014G>T	c.(1012-1014)CTG>CTT	p.L338L	CLEC16A_uc002dan.3_Silent_p.L336L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	338										ovary(1)|central_nervous_system(1)	2						AAGTCATTCTGAATGGTGATC	0.428		NaN											1	0	4.36969e-10	0.105934	4.65001e-10	10	39				
ABCC1	4363	broad.mit.edu	37	16	16180769	16180769	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:16180769C>T	uc010bvi.2	+	18	2556	c.2381C>T	c.(2380-2382)CCC>CTC	p.P794L	ABCC1_uc010bvj.2_Missense_Mutation_p.P735L|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Missense_Mutation_p.P794L|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Missense_Mutation_p.P678L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	794	ABC transporter 1.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCGATGATCCCCTCTCAGCA	0.597		NaN											0	0	0	0.049695	0	18	59				
UMOD	7369	broad.mit.edu	37	16	20344666	20344666	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:20344666G>T	uc002dgz.2	-	11	2022	c.1893C>A	c.(1891-1893)CTC>CTA	p.L631L	UMOD_uc002dha.2_Silent_p.L631L|UMOD_uc002dhb.2_Silent_p.L664L	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	631					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						AGGTGGCCGAGAGAAGCAGAG	0.542		NaN											1	0	0.000274275	0.047766	0.000281257	6	30				
ACSM5	54988	broad.mit.edu	37	16	20441100	20441100	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:20441100G>A	uc002dhe.2	+	8	1249	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	368	ATP (By similarity).				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GGAGCTGTACGAAGGCTATGG	0.617		NaN											0	0	0	0.11911	0	11	51				
CDH1	999	broad.mit.edu	37	16	68863653	68863653	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:68863653C>G	uc002ewg.1	+	15	2516	c.2392C>G	c.(2392-2394)CTT>GTT	p.L798V	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L737V	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	798	Cytoplasmic (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCCCGGTATCTTCCCCGCCC	0.522		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.0918	0	19	80				
MPHOSPH6	10200	broad.mit.edu	37	16	82183009	82183009	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:82183009C>A	uc002fgw.2	-	4	305	c.256_splice	c.e4-1	p.K86_splice		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6						M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0						GCATCAATTTCTGAAAAATAC	0.398		NaN											1	0	1.90571e-15	0.069456	2.07494e-15	34	35				
KLHDC4	54758	broad.mit.edu	37	16	87760397	87760397	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:87760397C>T	uc002fki.2	-	7	779	c.733G>A	c.(733-735)GTC>ATC	p.V245I	KLHDC4_uc010cht.1_Missense_Mutation_p.V64I|KLHDC4_uc002fkj.2_Missense_Mutation_p.V214I|KLHDC4_uc002fkk.2_Missense_Mutation_p.V64I|KLHDC4_uc002fkl.2_Missense_Mutation_p.V188I|KLHDC4_uc010chu.1_Missense_Mutation_p.V64I	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	245	Kelch 4.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCATAGACGACGATGCCGCCC	0.652		NaN											0	0	0	0.049695	0	15	30				
ANKRD11	29123	broad.mit.edu	37	16	89351818	89351818	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr16:89351818T>C	uc002fmx.1	-	9	1593	c.1132A>G	c.(1132-1134)AAT>GAT	p.N378D	ANKRD11_uc002fmy.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnc.1_Missense_Mutation_p.N378D|ANKRD11_uc002fnb.1_Missense_Mutation_p.N335D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	378						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATAAAACTATTGGATTTCGTT	0.433		NaN											0	0	0	0.050027	0	27	55				
SPATA22	84690	broad.mit.edu	37	17	3352316	3352316	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:3352316G>C	uc002fvm.2	-	6	694	c.457C>G	c.(457-459)CAA>GAA	p.Q153E	SPATA22_uc010vrg.1_Missense_Mutation_p.Q137E|SPATA22_uc010vrf.1_Missense_Mutation_p.Q153E|SPATA22_uc002fvn.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvo.2_Missense_Mutation_p.Q153E|SPATA22_uc002fvp.2_Missense_Mutation_p.Q153E|SPATA22_uc010ckf.2_Missense_Mutation_p.Q110E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	153											0						TTTTGTTGTTGAGCTCCCGAA	0.358		NaN											0	0	0	0.092188	0	35	83				
KIF1C	10749	broad.mit.edu	37	17	4905368	4905368	+	Silent	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:4905368C>G	uc002gan.1	+	6	704	c.378C>G	c.(376-378)CTC>CTG	p.L126L		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	126	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GTGAGGACCTCTTCTCTCGCG	0.413		NaN											0	0	0	0.117977	0	34	48				
DNAH2	146754	broad.mit.edu	37	17	7722612	7722612	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:7722612C>T	uc002giu.1	+	71	10915	c.10901C>T	c.(10900-10902)TCA>TTA	p.S3634L	DNAH2_uc010cnm.1_Missense_Mutation_p.S572L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3634					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCAGTTCTCACTGGATGCC	0.542		NaN											0	0	0	0.132662	0	14	47				
FAM83G	644815	broad.mit.edu	37	17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:18907093G>A	uc002guw.2	-	2	429	c.262C>T	c.(262-264)CAG>TAG	p.Q88*	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	88										ovary(1)|central_nervous_system(1)	2						TCGGGCCCCTGAGAGGGGCCC	0.701		NaN											0	0	0	0.009096	0	4	4				
PIGS	94005	broad.mit.edu	37	17	26890869	26890869	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:26890869C>T	uc002hbo.2	-	4	716	c.343G>A	c.(343-345)GAG>AAG	p.E115K	PIGS_uc002hbn.2_Missense_Mutation_p.E107K|PIGS_uc010wap.1_Missense_Mutation_p.E54K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	115	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					GCCTCCTCCTCATGGTCCAAA	0.478		NaN											0	0	0	0.139131	0	43	130				
ANKRD13B	124930	broad.mit.edu	37	17	27935029	27935029	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:27935029G>A	uc002hei.2	+	3	389	c.276G>A	c.(274-276)CGG>CGA	p.R92R	ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	92	ANK 2.										0						TGAGTACCCGGGACCTGGAGC	0.667		NaN											0	0	0	0.105934	0	11	27				
ATAD5	79915	broad.mit.edu	37	17	29162311	29162311	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162311G>A	uc002hfs.1	+	2	1558	c.1212G>A	c.(1210-1212)ATG>ATA	p.M404I	ATAD5_uc002hft.1_Missense_Mutation_p.M301I	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	404					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCAATTTATGAAAGCATTTA	0.358		NaN											0	0	0	0.09319	0	12	44				
ATAD5	79915	broad.mit.edu	37	17	29162605	29162605	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162605G>C	uc002hfs.1	+	2	1852	c.1506G>C	c.(1504-1506)AAG>AAC	p.K502N	ATAD5_uc002hft.1_Missense_Mutation_p.K399N	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	502					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACACTCAAAAGAAAGAAACAA	0.303		NaN											0	0	0	0.105934	0	12	33				
ATAD5	79915	broad.mit.edu	37	17	29162843	29162843	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29162843G>A	uc002hfs.1	+	2	2090	c.1744G>A	c.(1744-1746)GAA>AAA	p.E582K	ATAD5_uc002hft.1_Missense_Mutation_p.E479K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	582					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCTGAATCTGAAGCCAGCTT	0.378		NaN											0	0	0	0.0333	0	15	55				
NF1	4763	broad.mit.edu	37	17	29533336	29533336	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29533336C>T	uc002hgg.2	+	12	1672	c.1339C>T	c.(1339-1341)CTT>TTT	p.L447F	NF1_uc002hge.1_Missense_Mutation_p.L447F|NF1_uc002hgf.1_Missense_Mutation_p.L447F|NF1_uc002hgh.2_Missense_Mutation_p.L447F|NF1_uc010csn.1_Missense_Mutation_p.L307F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	447					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGTGAAACACTTCATAAAGC	0.413		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.139131	0	40	90		Valid		
NF1	4763	broad.mit.edu	37	17	29557904	29557904	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:29557904C>G	uc002hgg.2	+	24	3491	c.3158C>G	c.(3157-3159)TCA>TGA	p.S1053*	NF1_uc002hgh.2_Nonsense_Mutation_p.S1053*|NF1_uc010csn.1_Nonsense_Mutation_p.S913*|NF1_uc002hgi.1_Nonsense_Mutation_p.S86*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1053					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGGGAACATCAAACCAAGCA	0.358		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.02938	0	4	12		Valid		
SPACA3	124912	broad.mit.edu	37	17	31322626	31322626	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:31322626C>T	uc002hhs.1	+	2	309	c.234C>T	c.(232-234)CTC>CTT	p.L78L	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	78	Helical; Signal-anchor for type II membrane protein; (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			TCTGTCTGCTCAGCTGCCTGC	0.622		NaN											0	0	0	0.038395	0	17	47				
TUBG1	7283	broad.mit.edu	37	17	40762134	40762134	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:40762134G>C	uc002ian.2	+	2	456	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron	NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	20					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGTTGGGTTCGAGTTCTGGAA	0.627		NaN											0	0	0	0.054565	0	30	59				
BECN1	8678	broad.mit.edu	37	17	40963765	40963765	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:40963765C>G	uc002ibo.3	-	11	1227	c.1092G>C	c.(1090-1092)AAG>AAC	p.K364N	BECN1_uc010whb.1_Missense_Mutation_p.K277N|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.K364N	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	364					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CATGGTCAAACTTGTTGTCCC	0.493		NaN											0	0	0	0.059317	0	29	64				
MPP2	4355	broad.mit.edu	37	17	41958843	41958843	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:41958843C>A	uc010wip.1	-	7	988	c.931G>T	c.(931-933)GAT>TAT	p.D311Y	MPP2_uc002ien.1_Missense_Mutation_p.D283Y|MPP2_uc010wim.1_Missense_Mutation_p.D255Y|MPP2_uc002ieo.1_Missense_Mutation_p.D266Y|MPP2_uc010win.1_Missense_Mutation_p.D127Y|MPP2_uc010wio.1_Missense_Mutation_p.D255Y	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	290	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGTTGGCATCATCCTGGTTT	0.627		NaN											1	0	1.30916e-28	0.139131	1.45348e-28	37	75				
ACE	1636	broad.mit.edu	37	17	61566090	61566090	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:61566090G>C	uc002jau.1	+	16	2409	c.2387G>C	c.(2386-2388)AGA>ACA	p.R796T	ACE_uc002jav.1_Missense_Mutation_p.R222T|ACE_uc010ddv.1_Missense_Mutation_p.R23T|ACE_uc010wpj.1_Missense_Mutation_p.R222T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R106T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	796	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AAGGCGGGGAGAGCCATCCTC	0.562		NaN											0	0	0	0.064281	0	30	45				
HELZ	9931	broad.mit.edu	37	17	65141908	65141908	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:65141908C>T	uc010wqk.1	-	21	2910	c.2723G>A	c.(2722-2724)GGA>GAA	p.G908E	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G907E	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TACATCTTCTCCTCGTGCTGT	0.378		NaN											0	0	0	0.047766	0	8	38				
KCNJ2	3759	broad.mit.edu	37	17	68171221	68171221	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr17:68171221C>T	uc010dfg.2	+	2	442	c.41C>T	c.(40-42)TCA>TTA	p.S14L	KCNJ2_uc002jir.2_Missense_Mutation_p.S14L	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	14	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					ATCGTCTCTTCAGAAGAAGAC	0.517		NaN											0	0	0	0.0918	0	19	22				
EPB41L3	23136	broad.mit.edu	37	18	5394743	5394743	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:5394743G>A	uc002kmt.1	-	22	3289	c.3203C>T	c.(3202-3204)TCA>TTA	p.S1068L	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.S846L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S737L|EPB41L3_uc002kms.1_Missense_Mutation_p.S303L|EPB41L3_uc010wze.1_Missense_Mutation_p.S373L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S365L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S340L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S460L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1068	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTTGGTCACTGACATGTCAGG	0.502		NaN											0	0	0	0.099896	0	24	74				
SYT4	6860	broad.mit.edu	37	18	40854029	40854029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:40854029G>T	uc002law.2	-	2	734	c.365C>A	c.(364-366)ACC>AAC	p.T122N	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.T104N|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	122	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						GAGCTTCGGGGTTGCATTCTC	0.433		NaN											1	0	9.78306e-22	0.144211	1.08189e-21	22	49				
CCDC102B	79839	broad.mit.edu	37	18	66504371	66504371	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr18:66504371G>A	uc002lkk.2	+	4	594	c.371G>A	c.(370-372)AGA>AAA	p.R124K	CCDC102B_uc002lki.2_Missense_Mutation_p.R124K|CCDC102B_uc002lkj.1_Missense_Mutation_p.R124K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	124	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGACAACTCAGAATAAAACTA	0.458		NaN											0	0	0	0.069288	0	18	29				
ZNF57	126295	broad.mit.edu	37	19	2917729	2917729	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:2917729G>A	uc002lwr.2	+	4	1258	c.1110G>A	c.(1108-1110)GGG>GGA	p.G370G	ZNF57_uc010xha.1_Silent_p.G338G	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	370	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAATGTGGGAAAGCCTTCA	0.433		NaN											0	0	0	0.115264	0	3	60				
TJP3	27134	broad.mit.edu	37	19	3735874	3735874	+	Silent	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:3735874C>G	uc010xhv.1	+	9	1167	c.1167C>G	c.(1165-1167)CCC>CCG	p.P389P	TJP3_uc010xhs.1_Silent_p.P356P|TJP3_uc010xht.1_Silent_p.P320P|TJP3_uc010xhu.1_Silent_p.P365P|TJP3_uc010xhw.1_Silent_p.P375P	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	370						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGTTGCCCAGGGAAAGCA	0.512		NaN											0	0	0	0.139131	0	40	92				
DNMT1	1786	broad.mit.edu	37	19	10270402	10270402	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:10270402G>C	uc002mng.2	-	16	1344	c.1164C>G	c.(1162-1164)ATC>ATG	p.I388M	DNMT1_uc010xlc.1_Missense_Mutation_p.I404M|DNMT1_uc002mnh.2_Missense_Mutation_p.I283M|DNMT1_uc010xld.1_Missense_Mutation_p.I388M	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	388	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TGGCATCAAAGATGGACAGCT	0.537		NaN											0	0	0	0.049695	0	18	60				
ZNF491	126069	broad.mit.edu	37	19	11916930	11916930	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:11916930G>C	uc002mso.1	+	3	447	c.162G>C	c.(160-162)AGG>AGC	p.R54S		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	54	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCTTTAATAGGAACATCAGAA	0.393		NaN											0	0	0	0.043863	0	16	31				
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:12542283A>G	uc002mtu.2	-	4	901	c.703T>C	c.(703-705)TCT>CCT	p.S235P		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235	C2H2-type 4.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CTGTAAAAAGAAAAGGCTTTA	0.378		NaN											0	0	0	0.058154	0	7	133				
ZNF443	10224	broad.mit.edu	37	19	12542302	12542302	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:12542302C>T	uc002mtu.2	-	4	882	c.684G>A	c.(682-684)AAG>AAA	p.K228K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	228	C2H2-type 4.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						TAGAACACTGCTTACATTCAT	0.373		NaN											0	0	0	0.02938	0	6	123				
ZNF737	100129842	broad.mit.edu	37	19	20727612	20727612	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:20727612G>C	uc002npa.2	-	4	1577	c.1397C>G	c.(1396-1398)TCA>TGA	p.S466*		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	466					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGTAAGGTGTGAGGACGAGTT	0.413		NaN											0	0	0	0.064281	0	31	54				
SPRED3	399473	broad.mit.edu	37	19	38881044	38881044	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:38881044C>T	uc002oim.2	+	1	106	c.102C>T	c.(100-102)GTC>GTT	p.V34V	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Silent_p.V34V	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	34	WH1.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGTCGGGTCCGAGGGGCCA	0.731		NaN											0	0	0	0.009096	0	4	8				
SERTAD1	29950	broad.mit.edu	37	19	40928872	40928872	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:40928872G>C	uc002ont.3	-	2	741	c.582C>G	c.(580-582)CTC>CTG	p.L194L		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	194					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCCTGGTTTGAGGCCCTCAG	0.582		NaN											0	0	0	0.009096	0	4	6				
CYP2B6	1555	broad.mit.edu	37	19	41518309	41518309	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:41518309G>C	uc002opr.1	+	7	1078	c.1071G>C	c.(1069-1071)CAG>CAC	p.Q357H	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.Q157H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	357					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ATGAGATTCAGAGATTTTCCG	0.537		NaN											0	0	0	0.045705	0	26	45				
C19orf73	55150	broad.mit.edu	37	19	49622031	49622031	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:49622031G>A	uc002pmq.3	-	1	367	c.249C>T	c.(247-249)TCC>TCT	p.S83S	PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN	hypothetical protein LOC55150	83										large_intestine(1)	1						AAACGCAGCCGGAGCCAGTGG	0.657		NaN											0	0	0	0.009096	0	3	83				
KLK6	5653	broad.mit.edu	37	19	51470539	51470539	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:51470539C>T	uc002pui.2	-	4	343	c.83G>A	c.(82-84)TGC>TAC	p.C28Y	KLK6_uc010eoj.2_Missense_Mutation_p.C28Y|KLK6_uc002puh.2_Missense_Mutation_p.C37Y|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.C28Y|KLK6_uc002pum.2_Intron	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	28	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGTCTTGTCGCAGGGTCCGCC	0.587		NaN											0	0	0	0.105934	0	10	25				
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:53855196T>C	uc010ydv.1	+	4	1385	c.1268T>C	c.(1267-1269)ATG>ACG	p.M423T	ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	423	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGTCAGATGTCATCCCTT	0.408		NaN											0	0	0	0.058154	0	5	171				
ZNF761	388561	broad.mit.edu	37	19	53958360	53958360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:53958360C>A	uc010eqp.2	+	7	1057	c.599C>A	c.(598-600)TCA>TAA	p.S200*	ZNF761_uc010ydy.1_Nonsense_Mutation_p.S146*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.S146*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S146*(1)		ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TGGAATTCTTCATTACTCACA	0.373		NaN											1	0	2.46105e-21	0.045705	2.711e-21	31	62				
LILRA3	11026	broad.mit.edu	37	19	54803053	54803053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:54803053C>T	uc002qfd.2	-	4	689	c.624G>A	c.(622-624)TGG>TGA	p.W208*	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	208	Ig-like C2-type 2.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGTAGAGACCACACATAGG	0.617		NaN											0	0	0	0.064281	0	30	27				
NLRP2	55655	broad.mit.edu	37	19	55494608	55494608	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:55494608C>G	uc002qij.2	+	6	1628	c.1542C>G	c.(1540-1542)TTC>TTG	p.F514L	NLRP2_uc010yfp.1_Missense_Mutation_p.F491L|NLRP2_uc010esn.2_Missense_Mutation_p.F490L|NLRP2_uc010eso.2_Missense_Mutation_p.F511L|NLRP2_uc010esp.2_Missense_Mutation_p.F492L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	514	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGCCCTGTTCTACACCCTGG	0.562		NaN											0	0	0	0.080422	0	31	49				
A1BG	1	broad.mit.edu	37	19	58863655	58863655	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr19:58863655C>G	uc002qsd.3	-	4	669	c.607G>C	c.(607-609)GAG>CAG	p.E203Q	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	203	Ig-like V-type 2.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCACCGAGCTCCTCAATGGTC	0.607		NaN											0	0	0	0.069288	0	19	38				
NTSR2	23620	broad.mit.edu	37	2	11802346	11802346	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:11802346G>A	uc002rbq.3	-	2	719	c.645C>T	c.(643-645)TTC>TTT	p.F215F		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	215	Extracellular (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGGGAGCACGAAGGACACCA	0.642		NaN											0	0	0	0.058154	0	8	141				
CAPN13	92291	broad.mit.edu	37	2	30976054	30976054	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:30976054G>C	uc002rnn.2	-	10	1128	c.952C>G	c.(952-954)CAA>GAA	p.Q318E	CAPN13_uc002rnp.1_Missense_Mutation_p.Q318E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	318	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGAAATCTTGACACGACATC	0.453		NaN											0	0	0	0.099896	0	21	45				
PRKD3	23683	broad.mit.edu	37	2	37481367	37481367	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:37481367G>A	uc002rqd.2	-	17	3034	c.2479C>T	c.(2479-2481)CTT>TTT	p.L827F		NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	827	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GGATGACTAAGAGATTTGTCA	0.368		NaN											0	0	0	0.108266	0	23	30				
THUMPD2	80745	broad.mit.edu	37	2	39964112	39964112	+	Silent	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:39964112A>T	uc002rru.2	-	10	1312	c.1275T>A	c.(1273-1275)CCT>CCA	p.P425P	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Silent_p.P316P	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	425							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				TGGAATTGAAAGGGATGTTGC	0.418		NaN											0	0	0	0.059317	0	36	62				
SPTBN1	6711	broad.mit.edu	37	2	54895611	54895611	+	Missense_Mutation	SNP	G	G	C	rs150630405	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:54895611G>C	uc002rxu.2	+	36	7249	c.7000G>C	c.(7000-7002)GTC>CTC	p.V2334L	SPTBN1_uc010you.1_Missense_Mutation_p.V324L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2334					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CACCAGCGTCGTCACCATCAC	0.567		NaN											0	0	0	0.054565	0	24	28				
CD207	50489	broad.mit.edu	37	2	71060100	71060100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:71060100C>T	uc002shg.2	-	4	695	c.648G>A	c.(646-648)TGG>TGA	p.W216*		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	216	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						CGGCACTATACCAGGTCTTTG	0.478		NaN											0	0	0	0.146539	0	15	36				
MOGS	7841	broad.mit.edu	37	2	74691751	74691751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:74691751G>A	uc010ffj.2	-	2	614	c.451C>T	c.(451-453)CAC>TAC	p.H151Y	MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.H32Y|MOGS_uc010ffi.2_Missense_Mutation_p.H45Y|MOGS_uc010yru.1_Intron	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	151	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						AGGCCGTCGTGGAACTCCCAG	0.652		NaN											0	0	0	0.09836	0	33	55				
C2orf65	130951	broad.mit.edu	37	2	74842183	74842183	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:74842183G>A	uc002smy.2	-	3	451	c.334C>T	c.(334-336)CTG>TTG	p.L112L	C2orf65_uc010ysa.1_Silent_p.L112L|C2orf65_uc002smz.2_Silent_p.L112L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	112					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						GCCAGCCGCAGAGAAGCACCT	0.507		NaN											0	0	0	0.104719	0	32	87				
LYG2	254773	broad.mit.edu	37	2	99861855	99861855	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:99861855A>T	uc002szw.1	-	4	364	c.251T>A	c.(250-252)ATC>AAC	p.I84N	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.I84N|LYG2_uc002szx.1_Missense_Mutation_p.I84N	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	84					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						GACTTCTTTGATCAGAGTCTG	0.483		NaN											0	0	0	0.146539	0	14	44				
WDR33	55339	broad.mit.edu	37	2	128477268	128477268	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:128477268C>A	uc002tpg.1	-	16	2514	c.2331G>T	c.(2329-2331)ATG>ATT	p.M777I		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	777					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GATTCAATCCCATCAGAGGTC	0.602		NaN											1	0	0.00909568	0.009096	0.00916065	4	9				
TTN	7273	broad.mit.edu	37	2	179432361	179432361	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:179432361C>G	uc010zfg.1	-	275	71018	c.70794G>C	c.(70792-70794)AAG>AAC	p.K23598N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17293N|TTN_uc010zfi.1_Missense_Mutation_p.K17226N|TTN_uc010zfj.1_Missense_Mutation_p.K17101N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24525							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGCATTCTTTGCAATGA	0.388		NaN											0	0	0	0.076483	0	16	44				
TTN	7273	broad.mit.edu	37	2	179497730	179497730	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:179497730G>A	uc010zfg.1	-	183	35648	c.35424C>T	c.(35422-35424)ATC>ATT	p.I11808I	TTN_uc010zfh.1_Silent_p.I5503I|TTN_uc010zfi.1_Silent_p.I5436I|TTN_uc010zfj.1_Silent_p.I5311I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12735							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTATGAAGGATCAGAATAT	0.408		NaN											0	0	0	0.069288	0	20	19				
TRAK2	66008	broad.mit.edu	37	2	202264201	202264201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:202264201C>T	uc002uyb.3	-	5	825	c.379G>A	c.(379-381)GAA>AAA	p.E127K	TRAK2_uc002uyc.2_Missense_Mutation_p.E127K	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	127						early endosome|plasma membrane	GABA receptor binding				0						GCAGCGAGTTCCAGATCACGA	0.413		NaN											0	0	0	0.0333	0	12	51				
COL4A4	1286	broad.mit.edu	37	2	227924258	227924258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:227924258G>T	uc010zlt.1	-	28	2900	c.2246C>A	c.(2245-2247)TCA>TAA	p.S749*		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	749	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTCCTGGTGAGCCGGGAGG	0.552		NaN											1	0	2.37509e-13	0.055883	2.5564e-13	18	55				
TRIP12	9320	broad.mit.edu	37	2	230723895	230723895	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:230723895G>C	uc002vpw.1	-	3	603	c.494C>G	c.(493-495)TCA>TGA	p.S165*	TRIP12_uc002vpx.1_Nonsense_Mutation_p.S207*|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Nonsense_Mutation_p.S165*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGCACCAGTTGATTCAGACCC	0.502		NaN											0	0	0	0.055883	0	20	11				
SP100	6672	broad.mit.edu	37	2	231308897	231308897	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:231308897C>T	uc002vqt.2	+	4	416	c.275C>T	c.(274-276)TCT>TTT	p.S92F	SP100_uc002vqs.2_Missense_Mutation_p.S92F|SP100_uc002vqu.1_Missense_Mutation_p.S92F|SP100_uc010zmb.1_Missense_Mutation_p.S92F|SP100_uc002vqq.1_Missense_Mutation_p.S92F|SP100_uc002vqr.1_Missense_Mutation_p.S67F|SP100_uc010zmc.1_Missense_Mutation_p.S67F|SP100_uc002vqv.1_Missense_Mutation_p.S56F	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	92	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTAAGGATTCTCAAGATTCT	0.363		NaN											0	0	0	0.146539	0	14	24				
KIF1A	547	broad.mit.edu	37	2	241710491	241710491	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:241710491G>C	uc002vzy.2	-	14	1357	c.1211C>G	c.(1210-1212)TCA>TGA	p.S404*	KIF1A_uc010fzk.2_Nonsense_Mutation_p.S413*|KIF1A_uc002vzz.1_Nonsense_Mutation_p.S413*	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	404					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GAGCGAGGATGAGGGGCTCAT	0.617		NaN											0	0	0	0.132662	0	13	40				
NEU4	129807	broad.mit.edu	37	2	242757402	242757402	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr2:242757402C>T	uc010fzr.2	+	4	569	c.483C>T	c.(481-483)CCC>CCT	p.P161P	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.P161P|NEU4_uc002wcn.1_Silent_p.P173P|NEU4_uc002wco.1_Silent_p.P161P|NEU4_uc002wcp.1_Silent_p.P173P	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	161						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTGTGGGTCCCGGCCACGGCG	0.706		NaN											0	0	0	0.069234	0	9	6				
JAG1	182	broad.mit.edu	37	20	10621880	10621880	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:10621880C>G	uc002wnw.2	-	24	3445	c.2929G>C	c.(2929-2931)GAG>CAG	p.E977Q		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	977	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CAAATGTGCTCCGTAGTAAGA	0.408		NaN							Alagille_Syndrome				0	0	0	0.014758	0	4	62				
FOXA2	3170	broad.mit.edu	37	20	22563496	22563496	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:22563496G>T	uc002wsn.2	-	3	556	c.366C>A	c.(364-366)GGC>GGA	p.G122G	FOXA2_uc002wsm.2_Silent_p.G128G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	122					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					GGGCCAGGCCGCCCATGGCCC	0.756		NaN											1	0	0.00024832	0.009096	0.00025557	4	19				
CHD6	84181	broad.mit.edu	37	20	40050336	40050336	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:40050336G>C	uc002xka.1	-	31	5117	c.4939C>G	c.(4939-4941)CAA>GAA	p.Q1647E		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1647					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTACTCATTTGAGAATATGTA	0.423		NaN											0	0	0	0.105934	0	12	26				
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:43837052C>A	uc002xni.2	+	2	1171	c.1114C>A	c.(1114-1116)CGC>AGC	p.R372S	SEMG1_uc002xnj.2_Missense_Mutation_p.R312S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	372	58 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418		NaN											1	0	0.00024832	0.009096	0.00025557	4	58				
BTG3	10950	broad.mit.edu	37	21	18977218	18977218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:18977218C>A	uc002ykk.2	-	3	531	c.271G>T	c.(271-273)GAG>TAG	p.E91*	BTG3_uc002ykl.2_Nonsense_Mutation_p.E91*	NM_006806	NP_006797	Q14201	BTG3_HUMAN	B-cell translocation gene 3 isoform b	91					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm					0				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		AGAGTGAGCTCCTTTGGCAAG	0.448		NaN											1	0	2.39187e-15	0.049695	2.59426e-15	19	26				
GABPA	2551	broad.mit.edu	37	21	27130452	27130452	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:27130452G>T	uc002ylx.3	+	6	1212	c.685G>T	c.(685-687)GAT>TAT	p.D229Y	GABPA_uc002yly.3_Missense_Mutation_p.D229Y	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	229	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						CAACCAAGAAGATTTTTTTCA	0.398		NaN											1	0	8.10497e-08	0.055883	8.49666e-08	16	42				
AGPAT3	56894	broad.mit.edu	37	21	45387862	45387862	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:45387862G>C	uc002zdv.2	+	4	436	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	AGPAT3_uc002zdw.2_Missense_Mutation_p.E72Q|AGPAT3_uc002zdx.2_Missense_Mutation_p.E159Q|AGPAT3_uc002zdy.2_Missense_Mutation_p.E10Q	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	72	Cytoplasmic (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTCCTGCACGGAGTGTACACT	0.612		NaN											0	0	0	0.047766	0	8	26				
KRTAP10-3	386682	broad.mit.edu	37	21	45978005	45978005	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr21:45978005G>C	uc002zfj.1	-	1	639	c.594C>G	c.(592-594)CTC>CTG	p.L198L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	keratin associated protein 10-3	198	18 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						TGGGGCGGCAGAGGAGGGACA	0.692		NaN											0	0	0	0.02938	0	7	32				
MED15	51586	broad.mit.edu	37	22	20909408	20909408	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:20909408G>T	uc002zsp.2	+	5	504	c.424G>T	c.(424-426)GCT>TCT	p.A142S	MED15_uc002zsn.1_Missense_Mutation_p.A61S|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.A142S|MED15_uc010gso.2_Missense_Mutation_p.A142S|MED15_uc002zsr.2_Missense_Mutation_p.A116S|MED15_uc011ahs.1_Missense_Mutation_p.A116S|MED15_uc011aht.1_Missense_Mutation_p.A116S|MED15_uc002zss.2_Missense_Mutation_p.A61S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	142					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCACAGCATGGCTGTCGTGTC	0.567		NaN											1	0	2.56e-06	0.009096	2.65412e-06	3	6				
SLC7A4	6545	broad.mit.edu	37	22	21384120	21384120	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:21384120C>T	uc002zud.2	-	3	1571	c.1503G>A	c.(1501-1503)TCG>TCA	p.S501S	SLC7A4_uc002zue.2_Silent_p.S501S	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	501					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGCAGGGTCGAGTTCCCAA	0.582		NaN											0	0	0	0.021553	0	6	25				
HPS4	89781	broad.mit.edu	37	22	26860275	26860275	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:26860275C>G	uc003acl.2	-	11	1980	c.1321G>C	c.(1321-1323)GAG>CAG	p.E441Q	HPS4_uc003aci.2_Missense_Mutation_p.E436Q|HPS4_uc003acj.2_Missense_Mutation_p.E305Q|HPS4_uc003ack.2_Missense_Mutation_p.E232Q|HPS4_uc003acn.2_Missense_Mutation_p.E287Q|HPS4_uc010gvd.1_Missense_Mutation_p.E459Q|HPS4_uc003ach.2_Missense_Mutation_p.E176Q	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	441					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TCGAGCTGCTCTTGGGCTCCA	0.632		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.144211	0	27	79				
MORC2	22880	broad.mit.edu	37	22	31332626	31332626	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:31332626C>G	uc003aje.1	-	18	2787	c.1423G>C	c.(1423-1425)GAG>CAG	p.E475Q		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	537	CW-type.						ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						TCAGAAGCCTCACACCTGTAG	0.493		NaN											0	0	0	0.139131	0	40	44				
CELSR1	9620	broad.mit.edu	37	22	46787591	46787591	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:46787591G>A	uc003bhw.1	-	15	6087	c.6087C>T	c.(6085-6087)ATC>ATT	p.I2029I	CELSR1_uc011arc.1_Silent_p.I350I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2029	Extracellular (Potential).|Laminin EGF-like.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCGGCCGATGACGCCGG	0.682		NaN											0	0	0	0.021553	0	4	21				
TUBGCP6	85378	broad.mit.edu	37	22	50659293	50659293	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr22:50659293G>A	uc003bkb.1	-	16	4007	c.3495C>T	c.(3493-3495)TCC>TCT	p.S1165S	TUBGCP6_uc003bka.1_Silent_p.S252S|TUBGCP6_uc010har.1_Silent_p.S1157S|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1165	9 X 27 AA tandem repeats.|6.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCGGACACGTGTC	0.637		NaN											0	0	0	0.021553	0	4	103				
TGFBR2	7048	broad.mit.edu	37	3	30713543	30713543	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:30713543G>A	uc003ceo.2	+	4	1250	c.868G>A	c.(868-870)GAG>AAG	p.E290K	TGFBR2_uc003cen.2_Missense_Mutation_p.E315K	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	290	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TTGGAAGACAGAGAAGGACAT	0.483		NaN											0	0	0	0.139131	0	61	15				
ULK4	54986	broad.mit.edu	37	3	41746766	41746766	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:41746766G>A	uc003ckv.3	-	26	2867	c.2666C>T	c.(2665-2667)ACG>ATG	p.T889M		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	889							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATCTATGTTCGTTTCTCCTGA	0.294		NaN											0	0	0	0.139131	0	40	10				
LRRC2	79442	broad.mit.edu	37	3	46592976	46592976	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:46592976C>G	uc010hji.2	-	2	470	c.106G>C	c.(106-108)GAG>CAG	p.E36Q	LRRC2_uc003cpu.3_Missense_Mutation_p.E36Q	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	36										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCGCTCTTCTCAAGCCTTTCC	0.468		NaN											0	0	0	0.139131	0	54	23				
ARIH2	10425	broad.mit.edu	37	3	49012253	49012253	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:49012253C>T	uc003cvb.2	+	10	1204	c.892C>T	c.(892-894)CCC>TCC	p.P298S	ARIH2_uc003cvc.2_Missense_Mutation_p.P298S|ARIH2_uc003cvf.2_Missense_Mutation_p.P216S|ARIH2_uc010hkl.2_Missense_Mutation_p.P298S	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	298	RING-type 2.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P298P(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCTCAGTGTCCCAAGTGCAA	0.498		NaN											0	0	0	0.139131	0	42	8				
CBLB	868	broad.mit.edu	37	3	105377858	105377858	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:105377858C>T	uc003dwc.2	-	19	3227	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K	CBLB_uc003dwa.2_Missense_Mutation_p.E184K|CBLB_uc011bhi.1_Missense_Mutation_p.E947K	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	969	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AAGGCAAATTCTCGGAGGATG	0.468		NaN	Mis S		AML								0	0	0	0.125774	0	30	45				
VEPH1	79674	broad.mit.edu	37	3	157082155	157082155	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:157082155G>C	uc003fbj.1	-	8	1591	c.1274C>G	c.(1273-1275)TCT>TGT	p.S425C	VEPH1_uc003fbk.1_Missense_Mutation_p.S425C|VEPH1_uc010hvu.1_Missense_Mutation_p.S425C	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	425						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTTCTGATAGAGCCAGGGGT	0.348		NaN											0	0	0	0.080935	0	10	42				
PIK3CA	5290	broad.mit.edu	37	3	178922324	178922324	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr3:178922324G>A	uc003fjk.2	+	6	1250	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	365	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E365K(2)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCATGGAGGAGAACCCTTATG	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.139131	0	58	62		Valid		
HTT	3064	broad.mit.edu	37	4	3142363	3142363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:3142363C>G	uc011bvq.1	+	23	3076	c.2931C>G	c.(2929-2931)TTC>TTG	p.F977L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	975					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATCTCATTTCTCCGTCAGCA	0.473		NaN											0	0	0	0.115264	0	3	62				
WFS1	7466	broad.mit.edu	37	4	6302887	6302887	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:6302887G>A	uc003giy.2	+	8	1531	c.1365G>A	c.(1363-1365)ACG>ACA	p.T455T	WFS1_uc003gix.2_Silent_p.T455T|WFS1_uc003giz.2_Silent_p.T273T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	455					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		AGCCCTACACGCGCAGGGCCC	0.637		NaN											0	0	0	0.116897	0	22	55				
ZNF518B	85460	broad.mit.edu	37	4	10446215	10446215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:10446215G>A	uc003gmn.2	-	3	2225	c.1738C>T	c.(1738-1740)CAC>TAC	p.H580Y		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACTGCCTTGTGTTCCTCTGTC	0.393		NaN											0	0	0	0.064281	0	30	47				
N4BP2	55728	broad.mit.edu	37	4	40104376	40104376	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:40104376G>A	uc003guy.3	+	4	1249	c.911G>A	c.(910-912)GGT>GAT	p.G304D	N4BP2_uc010ifq.2_Missense_Mutation_p.G224D|N4BP2_uc010ifr.2_Missense_Mutation_p.G224D	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	304						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GATTTACCAGGTACAGGTGGG	0.473		NaN											0	0	0	0.108266	0	22	51				
CNOT6L	246175	broad.mit.edu	37	4	78650191	78650191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78650191C>T	uc011ccd.1	-	10	1200	c.1069G>A	c.(1069-1071)GCA>ACA	p.A357T	CNOT6L_uc003hks.2_Missense_Mutation_p.A357T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A200T	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	357					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.V357I(1)		large_intestine(1)	1						TGGGCATTTGCCACTATAAGC	0.388		NaN											0	0	0	0.050027	0	23	61				
CNOT6L	246175	broad.mit.edu	37	4	78650194	78650194	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78650194C>G	uc011ccd.1	-	10	1197	c.1066G>C	c.(1066-1068)GTG>CTG	p.V356L	CNOT6L_uc003hks.2_Missense_Mutation_p.V356L|CNOT6L_uc003hkt.1_Missense_Mutation_p.V199L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	356					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						GCATTTGCCACTATAAGCAGC	0.388		NaN											0	0	0	0.045705	0	22	60				
MRPL1	65008	broad.mit.edu	37	4	78815330	78815330	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:78815330C>G	uc003hku.2	+	6	794	c.596C>G	c.(595-597)GCT>GGT	p.A199G	MRPL1_uc010iji.1_Missense_Mutation_p.A122G	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	199							RNA binding				0						TTTTACGTAGCTGTTCCAGAA	0.308		NaN											0	0	0	0.139131	0	37	75				
AIMP1	9255	broad.mit.edu	37	4	107268795	107268795	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:107268795G>A	uc011cfg.1	+	7	937	c.885G>A	c.(883-885)GTG>GTA	p.V295V	AIMP1_uc003hyg.2_Silent_p.V295V|AIMP1_uc003hyh.2_Silent_p.V319V	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN	small inducible cytokine subfamily E, member 1	295					angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding				0						CCTTTGAGGTGAAAGGGAAGG	0.413		NaN											0	0	0	0.021553	0	4	44				
KIAA1109	84162	broad.mit.edu	37	4	123161005	123161005	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:123161005G>A	uc003ieh.2	+	27	4213	c.4168G>A	c.(4168-4170)GAT>AAT	p.D1390N	KIAA1109_uc003iei.1_Missense_Mutation_p.D1143N|KIAA1109_uc010ins.1_Missense_Mutation_p.D733N|KIAA1109_uc003iek.2_Missense_Mutation_p.D9N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1390					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTCAATGGCTGATAGTGAAGC	0.418		NaN											0	0	0	0.069288	0	19	33				
NPY2R	4887	broad.mit.edu	37	4	156135697	156135697	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:156135697C>T	uc003ioq.2	+	2	1101	c.606C>T	c.(604-606)GCC>GCT	p.A202A	NPY2R_uc003ior.2_Silent_p.A202A	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	202	Extracellular (Potential).			A -> P (in Ref. 4; AAB07760).	cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				AGATTGTGGCCTGTACTGAAA	0.507		NaN											0	0	0	0.058154	0	8	129				
ZFP42	132625	broad.mit.edu	37	4	188924685	188924685	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr4:188924685G>A	uc003izg.1	+	3	969	c.724G>A	c.(724-726)GAG>AAG	p.E242K	ZFP42_uc003izh.1_Missense_Mutation_p.E242K|ZFP42_uc003izi.1_Missense_Mutation_p.E242K	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	242					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCATACTGGAGAGAAGCCGTT	0.512		NaN											0	0	0	0.0333	0	15	27				
TRIM23	373	broad.mit.edu	37	5	64892995	64892995	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:64892995G>C	uc003jty.2	-	8	1278	c.1192C>G	c.(1192-1194)CAC>GAC	p.H398D	TRIM23_uc003jtw.2_Missense_Mutation_p.H398D|TRIM23_uc003jtx.2_Missense_Mutation_p.H398D	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	398	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GGTCCAATGTGAACTCGATTA	0.318		NaN											0	0	0	0.139131	0	49	57				
MSH3	4437	broad.mit.edu	37	5	79950579	79950579	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:79950579C>T	uc003kgz.2	+	1	286	c.33C>T	c.(31-33)CTC>CTT	p.L11L	DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.A59A|DHFR_uc003kgy.1_5'UTR	NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	11					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGGGCGGCCTCGCTGCCTCCA	0.697		NaN						MMR					0	0	0	0.105934	0	9	25				
SNCAIP	9627	broad.mit.edu	37	5	121767723	121767723	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:121767723G>A	uc003ksw.1	+	6	1448	c.1242G>A	c.(1240-1242)CTG>CTA	p.L414L	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Silent_p.L414L|SNCAIP_uc003ksx.1_Silent_p.L461L|SNCAIP_uc003ksy.1_Silent_p.L48L|SNCAIP_uc003ksz.1_Silent_p.L48L|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Silent_p.L48L|SNCAIP_uc003kta.1_Silent_p.L46L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L108L|SNCAIP_uc010jcx.1_Silent_p.L354L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	414					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTGCAGAACTGAGTTGTTCTA	0.403		NaN											0	0	0	0.086207	0	30	17				
PCDHB8	56128	broad.mit.edu	37	5	140558309	140558309	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140558309G>A	uc011dai.1	+	1	880	c.694G>A	c.(694-696)GAA>AAA	p.E232K	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	232	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATTGAAGTTGTCGA	0.507		NaN											0	0	0	0.124865	0	35	29				
PCDHB11	56125	broad.mit.edu	37	5	140581588	140581588	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140581588G>T	uc003liy.2	+	1	2241	c.2241G>T	c.(2239-2241)CAG>CAT	p.Q747H	PCDHB11_uc011daj.1_Missense_Mutation_p.Q382H	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	747	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCCAGAGCTACCAGT	0.582		NaN											1	0	2.18481e-45	0.139131	2.43524e-45	69	93				
PCDHGA10	56106	broad.mit.edu	37	5	140793016	140793016	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:140793016G>T	uc003lkl.1	+	1	274	c.274G>T	c.(274-276)GGC>TGC	p.G92C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.G92C	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	92	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGGGCAGGATAGA	0.602		NaN											1	0	3.19467e-53	0.139131	3.57498e-53	62	58				
RBM27	54439	broad.mit.edu	37	5	145609388	145609388	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:145609388G>C	uc003lnz.3	+	5	670	c.504G>C	c.(502-504)AAG>AAC	p.K168N	RBM27_uc003lny.2_Missense_Mutation_p.K168N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	168	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAggagtaagagtcggagta	0.428		NaN											0	0	0	0.124865	0	38	57				
SPINK5	11005	broad.mit.edu	37	5	147475436	147475436	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:147475436G>A	uc003lox.2	+	10	923	c.850G>A	c.(850-852)GAA>AAA	p.E284K	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.E256K|SPINK5_uc010jgr.2_Missense_Mutation_p.E265K|SPINK5_uc003low.2_Missense_Mutation_p.E284K|SPINK5_uc003loy.2_Missense_Mutation_p.E284K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	284	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAAAGCTGAAGAAAAAAC	0.373		NaN											0	0	0	0.124865	0	35	30				
DOCK2	1794	broad.mit.edu	37	5	169461533	169461533	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:169461533C>T	uc003maf.2	+	35	3678	c.3598C>T	c.(3598-3600)CGC>TGC	p.R1200C	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R692C	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1200	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAAGACAACCGCATGAGCTG	0.592		NaN											0	0	0	0.083992	0	19	46				
KCNIP1	30820	broad.mit.edu	37	5	170145787	170145787	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:170145787G>A	uc003mas.2	+	3	649	c.120G>A	c.(118-120)ATG>ATA	p.M40I	KCNIP1_uc003map.2_Missense_Mutation_p.M38I|KCNIP1_uc003mat.2_Missense_Mutation_p.M29I|KCNIP1_uc010jjp.2_Missense_Mutation_p.M1I|KCNIP1_uc010jjq.2_Missense_Mutation_p.M29I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	40	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGAGATGACCATGGTTT	0.512		NaN											0	0	0	0.0333	0	13	23				
RGS14	10636	broad.mit.edu	37	5	176794807	176794807	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:176794807C>T	uc003mgf.2	+	7	902	c.720C>T	c.(718-720)CTC>CTT	p.L240L	RGS14_uc003mgg.1_Silent_p.L87L|RGS14_uc003mgh.2_Silent_p.L87L|RGS14_uc003mgi.2_5'UTR	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	240					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCCTCTCCGCAAGTCCT	0.652		NaN											0	0	0	0.11911	0	11	8				
DBN1	1627	broad.mit.edu	37	5	176895189	176895189	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr5:176895189C>G	uc003mgy.2	-	3	347	c.175G>C	c.(175-177)GAG>CAG	p.E59Q	DBN1_uc003mgx.2_Missense_Mutation_p.E61Q|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_5'UTR	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	59	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGGTTCTCAAAGTGTCCC	0.552		NaN											0	0	0	0.139131	0	107	118				
DEK	7913	broad.mit.edu	37	6	18264194	18264194	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:18264194C>T	uc003ncr.1	-	2	218	c.25G>A	c.(25-27)GAG>AAG	p.E9K	DEK_uc011djf.1_Missense_Mutation_p.E9K|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	9					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCTCCCCCTCCGCAGCAGGG	0.562		NaN	T	NUP214	AML								0	0	0	0.076483	0	18	29				
PRSS16	10279	broad.mit.edu	37	6	27219016	27219016	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:27219016G>A	uc003nja.2	+	7	702	c.690G>A	c.(688-690)ATG>ATA	p.M230I	PRSS16_uc011dkt.1_Intron|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc003njd.2_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	230					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						GAAGCCTAATGAGCACCGCGA	0.672		NaN											0	0	0	0.104719	0	29	28				
HIST1H2BL	8340	broad.mit.edu	37	6	27775577	27775577	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:27775577C>T	uc003njl.2	-	1	133	c.108G>A	c.(106-108)GAG>GAA	p.E36E	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	36					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CGGAGTAGCTCTCCTTGCGGC	0.587		NaN											0	0	0	0.139131	0	77	191				
OR14J1	442191	broad.mit.edu	37	6	29274779	29274779	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:29274779C>T	uc011dln.1	+	1	313	c.313C>T	c.(313-315)CTG>TTG	p.L105L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTCATAGCTCTGGCCTCATC	0.453		NaN											0	0	0	0.139131	0	47	43				
ZFP57	346171	broad.mit.edu	37	6	29640988	29640988	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:29640988G>A	uc011dlw.1	-	4	1051	c.900C>T	c.(898-900)ACC>ACT	p.T300T	ZFP57_uc003nnl.3_Silent_p.T280T	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	216					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						ATTCAGCCTGGGTGCCTGGAA	0.557		NaN											0	0	0	0.139131	0	103	23				
MUC21	394263	broad.mit.edu	37	6	30954960	30954960	+	Silent	SNP	C	C	T	rs41288683		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:30954960C>T	uc003nsh.2	+	2	1259	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	336	Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTGAGTCCAGCACGACCTCCA	0.627		NaN											0	0	0	0.069288	0	6	169				
BACH2	60468	broad.mit.edu	37	6	90647890	90647890	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:90647890C>T	uc011eab.1	-	8	2825	c.2016G>A	c.(2014-2016)CAG>CAA	p.Q672Q	BACH2_uc003pnw.2_Silent_p.Q672Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	672						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATTCTAAATTCTGAATACAGT	0.458		NaN											0	0	0	0.139131	0	58	19				
ZBTB24	9841	broad.mit.edu	37	6	109803198	109803198	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:109803198T>C	uc003ptl.1	-	2	200	c.32A>G	c.(31-33)CAG>CGG	p.Q11R	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q11R|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.Q11R	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	11	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TACAACAAGCTGCCCAGAAGG	0.443		NaN											0	0	0	0.080422	0	29	13				
FYN	2534	broad.mit.edu	37	6	111983077	111983077	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:111983077G>A	uc003pvj.2	-	13	1819	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	FYN_uc003pvi.2_Silent_p.I438I|FYN_uc003pvk.2_Silent_p.I493I|FYN_uc003pvh.2_Silent_p.I490I	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	493	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CATGCAGAGAGATGGGGCAGT	0.567		NaN											0	0	0	0.139131	0	82	47				
SYNE1	23345	broad.mit.edu	37	6	152737694	152737694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:152737694C>G	uc010kiw.2	-	41	6480	c.5878G>C	c.(5878-5880)GAG>CAG	p.E1960Q	SYNE1_uc003qot.3_Missense_Mutation_p.E1967Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1960Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1943Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1960	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATCCTCTCTACCTCTCCA	0.502		NaN								HNSCC(10;0.0054)			0	0	0	0.02938	0	6	95				
RBM16	22828	broad.mit.edu	37	6	155154524	155154524	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:155154524A>G	uc003qqa.2	+	21	4043	c.3811A>G	c.(3811-3813)ACA>GCA	p.T1271A	TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.T1337A|RBM16_uc011efk.1_Missense_Mutation_p.T1316A|RBM16_uc003qpz.2_Missense_Mutation_p.T1271A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	1271					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		AACTGAGGGGACATAATCATC	0.373		NaN											0	0	0	0.09836	0	35	22				
TULP4	56995	broad.mit.edu	37	6	158922867	158922867	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:158922867G>A	uc003qrf.2	+	13	3529	c.2172G>A	c.(2170-2172)CTG>CTA	p.L724L	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	724					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TAGATGTCCTGACCAACCAGA	0.567		NaN											0	0	0	0.139131	0	83	34				
IGF2R	3482	broad.mit.edu	37	6	160500774	160500774	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr6:160500774G>C	uc003qta.2	+	38	5789	c.5641G>C	c.(5641-5643)GAA>CAA	p.E1881Q		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1881	13.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCACCAGGATGAAGCGGTCGT	0.458		NaN											0	0	0	0.080422	0	29	18				
MICALL2	79778	broad.mit.edu	37	7	1481960	1481960	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:1481960G>C	uc003skj.3	-	7	1726	c.1579C>G	c.(1579-1581)CAG>GAG	p.Q527E	MICALL2_uc003ski.3_Missense_Mutation_p.Q14E	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	527						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGATGCCTGAGAGGTACTG	0.667		NaN											0	0	0	0.139131	0	50	92				
IL6	3569	broad.mit.edu	37	7	22768323	22768323	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:22768323G>C	uc011jyn.1	+	4	681	c.222G>C	c.(220-222)AAG>AAC	p.K74N	uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.K74N|IL6_uc011jyp.1_5'UTR|IL6_uc003svj.3_Missense_Mutation_p.K74N|IL6_uc011jyq.1_Missense_Mutation_p.K128N	NM_000600	NP_000591	P05231	IL6_HUMAN	interleukin 6 precursor	74					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding				0					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CATGTAACAAGAGTAACATGT	0.428		NaN											0	0	0	0.014758	0	5	59				
NUPL2	11097	broad.mit.edu	37	7	23239972	23239972	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:23239972G>A	uc003svu.2	+	7	1139	c.880G>A	c.(880-882)GAA>AAA	p.E294K	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.E171K|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.E171K|NUPL2_uc011jyx.1_Missense_Mutation_p.E66K	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	294	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						TGGGAAGCCTGAAGTCACATC	0.502		NaN											0	0	0	0.047766	0	9	10				
ASB4	51666	broad.mit.edu	37	7	95165794	95165794	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:95165794G>A	uc011kij.1	+	4	1024	c.1024G>A	c.(1024-1026)GTC>ATC	p.V342I		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	342					intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAGTTGTAGTCAATGCCTA	0.408		NaN											0	0	0	0.146539	0	13	43				
SRPK2	6733	broad.mit.edu	37	7	104758350	104758350	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:104758350C>G	uc003vct.2	-	15	2189	c.2002G>C	c.(2002-2004)GAA>CAA	p.E668Q	SRPK2_uc003vcu.2_Missense_Mutation_p.E668Q|SRPK2_uc003vcv.2_Missense_Mutation_p.E679Q|uc003vcr.1_5'Flank|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	668	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GGAACCATTTCTAACATCGGG	0.458		NaN											0	0	0	0.146539	0	14	31				
COG5	10466	broad.mit.edu	37	7	106938761	106938761	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:106938761C>T	uc003ved.2	-	12	1757	c.1232G>A	c.(1231-1233)GGA>GAA	p.G411E	COG5_uc003vec.2_Missense_Mutation_p.G411E|COG5_uc003vee.2_Missense_Mutation_p.G411E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	411					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						AGGGTATTCTCCTTCAAATGC	0.323		NaN											0	0	0	0.105934	0	11	26				
MKRN1	23608	broad.mit.edu	37	7	140158900	140158900	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:140158900C>T	uc003vvt.2	-	4	903	c.678G>A	c.(676-678)GAG>GAA	p.E226E	MKRN1_uc003vvs.2_Silent_p.E162E|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.E226E|MKRN1_uc003vvu.3_Silent_p.E162E	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	226	C3H1-type 3.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					ACACACAGTTCTCCCCGTATC	0.532		NaN											0	0	0	0.139131	0	43	97				
DENND2A	27147	broad.mit.edu	37	7	140273705	140273705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:140273705G>A	uc010lnj.2	-	4	1494	c.1349C>T	c.(1348-1350)TCC>TTC	p.S450F	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S450F|DENND2A_uc003vvw.2_Missense_Mutation_p.S450F|DENND2A_uc003vvx.2_Missense_Mutation_p.S450F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	450										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GCTGATTTTGGAAGGGGACCC	0.498		NaN											0	0	0	0.139131	0	42	109				
CASP2	835	broad.mit.edu	37	7	142985599	142985599	+	Silent	SNP	G	G	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:142985599G>T	uc003wco.2	+	1	198	c.51G>T	c.(49-51)CTG>CTT	p.L17L	CASP2_uc003wcp.2_Silent_p.L17L|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_5'Flank	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	17					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					ACAAGGAGCTGATGGCCGCTG	0.682		NaN											1	0	0.00198382	0.02938	0.00201963	4	14				
MLL3	58508	broad.mit.edu	37	7	151949045	151949045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:151949045C>A	uc003wla.2	-	11	1819	c.1600G>T	c.(1600-1602)GAG>TAG	p.E534*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	534					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCAGCTATCTCCACTTCCTCA	0.358		NaN	N		medulloblastoma								1	0	2.27111e-07	0.09319	2.3633e-07	9	16		Valid		
VIPR2	7434	broad.mit.edu	37	7	158827298	158827298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr7:158827298G>A	uc003woh.2	-	9	1039	c.853C>T	c.(853-855)CGA>TGA	p.R285*	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	285	Helical; Name=5; (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCGGTATTCGTATGACCCAC	0.478		NaN											0	0	0	0.062417	0	18	47				
UBXN8	7993	broad.mit.edu	37	8	30620854	30620854	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:30620854C>T	uc003xii.2	+	9	653	c.636C>T	c.(634-636)TAC>TAT	p.Y212Y	UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	212	UBX.				single fertilization						0						TGAAGTCCTACAGCTCACAGG	0.428		NaN											0	0	0	0.139131	0	35	28				
KCNU1	157855	broad.mit.edu	37	8	36642052	36642052	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:36642052C>T	uc010lvw.2	+	1	211	c.124C>T	c.(124-126)CTG>TTG	p.L42L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	42	Helical; Name=Segment S0; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCATCATCCTGTTGATCTT	0.428		NaN											0	0	0	0.069234	0	8	19				
GGH	8836	broad.mit.edu	37	8	63939794	63939794	+	Silent	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:63939794G>C	uc003xuw.2	-	4	589	c.306C>G	c.(304-306)CTC>CTG	p.L102L		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	102	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	CTGAGCGTCTGAGGTCAACAC	0.383		NaN											0	0	0	0.131918	0	35	111				
KCNB2	9312	broad.mit.edu	37	8	73849756	73849756	+	Silent	SNP	T	T	C	rs114148959	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:73849756T>C	uc003xzb.2	+	3	2754	c.2166T>C	c.(2164-2166)AAT>AAC	p.N722N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	722	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTAAGGAAAATAGAGGCAGTG	0.537		NaN											0	0	0	0.139131	0	64	54				
SNX31	169166	broad.mit.edu	37	8	101629926	101629926	+	Silent	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:101629926A>G	uc003yjr.2	-	5	505	c.354T>C	c.(352-354)TAT>TAC	p.Y118Y	SNX31_uc011lhb.1_Silent_p.Y19Y	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	118					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATATGTCCAGATAAGCTTTCT	0.303		NaN											0	0	0	0.086207	0	32	105				
CSMD3	114788	broad.mit.edu	37	8	114185980	114185981	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:114185980_114185981GA>AT	uc003ynu.2	-	4	838_839	c.679_680TC>AT	c.(679-681)TCG>ATG	p.S227M	CSMD3_uc003ynt.2_Missense_Mutation_p.S187M|CSMD3_uc011lhx.1_Missense_Mutation_p.S227M|CSMD3_uc010mcx.1_Missense_Mutation_p.S227M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	227	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAATCCCACGAAGCTGTATTA	0.431		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.115264	0	41	138				
ATAD2	29028	broad.mit.edu	37	8	124382256	124382256	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:124382256C>T	uc003yqh.3	-	7	844	c.736G>A	c.(736-738)GAA>AAA	p.E246K	ATAD2_uc011lii.1_Missense_Mutation_p.E37K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E246K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCACCCTCTTCAGATGACTCT	0.234		NaN											0	0	0	0.139131	0	45	44				
RHPN1	114822	broad.mit.edu	37	8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:144457813C>T	uc003yyb.2	+	2	284	c.151C>T	c.(151-153)CGG>TGG	p.R51W		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	51	REM.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672		NaN											0	0	0	0.144211	0	24	20				
GPR172A	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:145583069A>G	uc003zcc.1	+	2	273	c.116A>G	c.(115-117)AAA>AGA	p.K39R	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.K39R|GPR172A_uc003zce.1_Missense_Mutation_p.K39R|GPR172A_uc010mfy.1_Missense_Mutation_p.K39R|GPR172A_uc003zcf.1_Missense_Mutation_p.K39R|GPR172A_uc011llc.1_Intron	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	39						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTGGTGGTCAAAGAGCTTCCA	0.647		NaN											0	0	0	0.115264	0	3	40				
TLE1	7088	broad.mit.edu	37	9	84235445	84235445	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:84235445G>A	uc004aly.2	-	9	1063	c.622C>T	c.(622-624)CTA>TTA	p.L208L	TLE1_uc004alz.2_Silent_p.L218L|TLE1_uc011lsr.1_Silent_p.L208L|TLE1_uc004ama.1_Silent_p.L208L|TLE1_uc011lss.1_Silent_p.L134L	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	208	CCN domain.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GTGCCTCTTAGACTGTCTGGG	0.408		NaN											0	0	0	0.043863	0	16	50				
SUSD3	203328	broad.mit.edu	37	9	95840160	95840160	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:95840160G>A	uc004atb.2	+	3	346	c.310G>A	c.(310-312)GTG>ATG	p.V104M	SUSD3_uc004atc.2_Missense_Mutation_p.V91M	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3	104	Helical; (Potential).					integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						TGGCTTCAAGGTGGCCGTGAT	0.597		NaN											0	0	0	0.059317	0	27	33				
ZNF462	58499	broad.mit.edu	37	9	109688322	109688322	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:109688322C>G	uc004bcz.2	+	3	2418	c.2129C>G	c.(2128-2130)ACC>AGC	p.T710S	ZNF462_uc010mto.2_Missense_Mutation_p.T558S|ZNF462_uc004bda.2_Missense_Mutation_p.T558S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	710					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATTAACCAAACCAAACAGCAG	0.453		NaN											0	0	0	0.086207	0	36	70				
AK1	203	broad.mit.edu	37	9	130630320	130630320	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130630320G>A	uc004bsm.3	-	7	705	c.552C>T	c.(550-552)TCC>TCT	p.S184S		NM_000476	NP_000467	P00568	KAD1_HUMAN	adenylate kinase 1	184					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding				0						TGCAGACCTGGGAGAAGACAC	0.662		NaN											0	0	0	0.076483	0	20	41				
ST6GALNAC4	27090	broad.mit.edu	37	9	130670821	130670821	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130670821C>G	uc004bss.2	-	6	1035	c.759G>C	c.(757-759)GAG>GAC	p.E253D	ST6GALNAC4_uc004bst.2_Missense_Mutation_p.E169D	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN	sialyltransferase 7D isoform a	253	Lumenal (Potential).				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity				0						GCCGGCCCTTCTCAAAGTAGT	0.647		NaN											0	0	0	0.139131	0	44	48				
FAM102A	399665	broad.mit.edu	37	9	130742369	130742369	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:130742369G>A	uc004bsx.1	-	1	127	c.48C>T	c.(46-48)TTC>TTT	p.F16F		NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	16										ovary(1)	1						CCTCCAGGGTGAAAGTAGTTT	0.522		NaN											0	0	0	0.139131	0	51	107				
AGPAT2	10555	broad.mit.edu	37	9	139571568	139571568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:139571568C>A	uc004cii.1	-	3	439	c.337G>T	c.(337-339)GAG>TAG	p.E113*	AGPAT2_uc004cij.1_Nonsense_Mutation_p.E113*	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	113					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		ACGCAGCGCTCCGGAAGGACC	0.547		NaN											1	0	0.00621372	0.058154	0.00630312	9	22				
COBRA1	25920	broad.mit.edu	37	9	140151344	140151344	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr9:140151344G>A	uc004cmm.3	+	4	638	c.435G>A	c.(433-435)GTG>GTA	p.V145V		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	145					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CCGTGGAGGTGAAGCGGCAGA	0.567		NaN											0	0	0	0.058154	0	7	35				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:37027156C>G	uc004ddl.1	+	1	687	c.673C>G	c.(673-675)CAG>GAG	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	225										ovary(3)	3						TCTCCGCCCACAGCCTCCCAA	0.647		NaN											0	0	0	0.021553	0	4	72				
MSN	4478	broad.mit.edu	37	X	64959692	64959692	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:64959692G>A	uc004dwf.2	+	13	1869	c.1671G>A	c.(1669-1671)AAG>AAA	p.K557K		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	557					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						ACAAATACAAGACCCTGCGCC	0.547		NaN	T	ALK	ALCL								0	0	0	0.139131	0	43	58				
ACRC	93953	broad.mit.edu	37	X	70823836	70823836	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:70823836G>A	uc004eae.2	+	8	1210	c.709G>A	c.(709-711)GAC>AAC	p.D237N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	237	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					TGTTCCCGACGACAGCAGTGA	0.537		NaN											0	0	0	0.139131	0	248	47				
PAK3	5063	broad.mit.edu	37	X	110439755	110439755	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:110439755G>A	uc004epa.2	+	13	1366	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	PAK3_uc010npt.1_Missense_Mutation_p.E432K|PAK3_uc010npu.1_Missense_Mutation_p.E432K|PAK3_uc004eoy.1_Missense_Mutation_p.E187K|PAK3_uc004eoz.2_Missense_Mutation_p.E432K|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.E468K|PAK3_uc010npw.1_Missense_Mutation_p.E453K	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	447	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						GATGGCACCTGAGGTGGTGAC	0.468		NaN								TSP Lung(19;0.15)			0	0	0	0.139131	0	49	57				
KLHL13	90293	broad.mit.edu	37	X	117053581	117053581	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:117053581G>C	uc004eql.2	-	4	535	c.473C>G	c.(472-474)TCT>TGT	p.S158C	KLHL13_uc004eqk.2_Missense_Mutation_p.S107C|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.S152C|KLHL13_uc011mtp.1_Missense_Mutation_p.S160C|KLHL13_uc004eqm.2_Missense_Mutation_p.S107C|KLHL13_uc011mtq.1_Missense_Mutation_p.S142C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	158	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						CATATTAAGAGAAAGCTTTGC	0.383		NaN											0	0	0	0.099896	0	23	43				
CDR1	1038	broad.mit.edu	37	X	139866322	139866322	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:139866322C>T	uc004fbg.1	-	1	402	c.210G>A	c.(208-210)TCG>TCA	p.S70S	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	70	23 X 6 AA approximate repeats.|12.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCATAGCTTCCGAAAAATCCA	0.458		NaN											0	0	0	0.115264	0	3	48				
SPANXN2	494119	broad.mit.edu	37	X	142795255	142795255	+	Silent	SNP	C	C	T			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:142795255C>T	uc004fbz.2	-	2	1177	c.423G>A	c.(421-423)CTG>CTA	p.L141L		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	141										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGAGTCCAGGTCTTCGT	0.517		NaN											0	0	0	0.105934	0	6	227				
MAGEA6	4105	broad.mit.edu	37	X	151870055	151870055	+	Missense_Mutation	SNP	T	T	C	rs140963484	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151870055T>C	uc004ffq.1	+	3	939	c.745T>C	c.(745-747)TAT>CAT	p.Y249H	MAGEA6_uc004ffr.1_Missense_Mutation_p.Y249H|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	249	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACCCAATATTTCGTGCA	0.547		NaN											0	0	0	0.083992	0	21	89				
MAGEA3	4102	broad.mit.edu	37	X	151935357	151935357	+	Silent	SNP	T	T	C	rs35014597	byFrequency	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151935357T>C	uc004fgp.2	-	3	1019	c.810A>G	c.(808-810)GAA>GAG	p.E270E		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	270	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGAATTCATAACATG	0.532		NaN											0	0	0	0.038147	0	4	145				
MAGEA3	4102	broad.mit.edu	37	X	151935363	151935363	+	Silent	SNP	A	A	G	rs35137903	by1000genomes	TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:151935363A>G	uc004fgp.2	-	3	1013	c.804T>C	c.(802-804)TGT>TGC	p.C268C		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	268	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATTCATAACATGCAGGAT	0.517		NaN											0	0	0	0.080935	0	7	138				
HCFC1	3054	broad.mit.edu	37	X	153224926	153224926	+	Silent	SNP	G	G	A			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:153224926G>A	uc004fjp.2	-	9	1989	c.1461C>T	c.(1459-1461)CTC>CTT	p.L487L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	487					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTCACTTTGAGAACAGCAG	0.612		NaN											0	0	0	0.049695	0	16	26				
ARHGEF19	128272	broad.mit.edu	37	1	16531255	16531255	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:16531255C>T	uc001ayc.1	-	12	2043	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.E113K	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	636	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACTCACTCCTTCCGCCGA	0.617		NaN											0	0	0	0.010729	0	10	20				
LUZP1	7798	broad.mit.edu	37	1	23418665	23418665	+	Missense_Mutation	SNP	C	C	T	rs141739515	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:23418665C>T	uc001bgk.2	-	4	2474	c.2090G>A	c.(2089-2091)CGA>CAA	p.R697Q	LUZP1_uc010odv.1_Missense_Mutation_p.R697Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R697Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R697Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	697						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTGCCCCTCGGGTTTTAGC	0.463		NaN											0	0	0	0.008871	0	19	382				
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:29070328G>A	uc001brc.2	+	4	2043	c.1546G>A	c.(1546-1548)GAG>AAG	p.E516K	YTHDF2_uc001brd.2_Missense_Mutation_p.E513K|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466K|YTHDF2_uc001bre.2_Missense_Mutation_p.E466K	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	516	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478		NaN											0	0	0	0.02938	0	6	94				
CMPK1	51727	broad.mit.edu	37	1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:47840885C>T	uc001cri.2	+	5	714	c.565C>T	c.(565-567)CAG>TAG	p.Q189*	CMPK1_uc010omp.1_Nonsense_Mutation_p.Q140*|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	157					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)	GACCTACCTTCAGTCAACAAA	0.368		NaN											0	0	0	0.008291	0	10	164				
LRRC7	57554	broad.mit.edu	37	1	70505042	70505042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:70505042G>A	uc001dep.2	+	19	3451	c.3421G>A	c.(3421-3423)GAT>AAT	p.D1141N	LRRC7_uc009wbg.2_Missense_Mutation_p.D425N|LRRC7_uc001deq.2_Missense_Mutation_p.D382N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						centrosome|focal adhesion|nucleolus	protein binding	p.D1141N(1)		ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GCCCCCAACTGATAGGTACGG	0.572		NaN											0	0	0	0.025465	0	40	112				
COL11A1	1301	broad.mit.edu	37	1	103404632	103404632	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:103404632C>T	uc001dul.2	-	44	3715	c.3397G>A	c.(3397-3399)GAG>AAG	p.E1133K	COL11A1_uc001duk.2_Missense_Mutation_p.E329K|COL11A1_uc001dum.2_Missense_Mutation_p.E1145K|COL11A1_uc001dun.2_Missense_Mutation_p.E1094K|COL11A1_uc009weh.2_Missense_Mutation_p.E1017K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1133	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCCCGGCTCACCAATTTCA	0.333		NaN											0	0	0	0.017118	0	32	81				
DENND2C	163259	broad.mit.edu	37	1	115166229	115166229	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:115166229C>T	uc001efd.1	-	5	1544	c.842G>A	c.(841-843)CGA>CAA	p.R281Q	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R281Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	281										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCGATTTCGAAAGTGCTG	0.303		NaN											0	0	0	0.009096	0	4	42				
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:149871751G>A	uc001etf.2	+	2	260	c.139G>A	c.(139-141)GAG>AAG	p.E47K		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	47						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677		NaN											0	0	0	0.009096	0	4	36				
SEMA4A	64218	broad.mit.edu	37	1	156145022	156145022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:156145022C>G	uc001fnl.2	+	13	1684	c.1580C>G	c.(1579-1581)TCT>TGT	p.S527C	SEMA4A_uc009wrq.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnm.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnn.2_Missense_Mutation_p.S395C|SEMA4A_uc001fno.2_Missense_Mutation_p.S527C	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	527	Extracellular (Potential).|PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TGCCTCCTGTCTGCCCCCAAC	0.617		NaN											0	0	0	0.01441	0	68	192				
OR10K1	391109	broad.mit.edu	37	1	158435847	158435847	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:158435847C>G	uc010pij.1	+	1	496	c.496C>G	c.(496-498)CTG>GTG	p.L166V		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTATTTCATCTGCCCTTCCA	0.547		NaN											0	0	0	0.01441	0	64	180				
USP21	27005	broad.mit.edu	37	1	161132715	161132715	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:161132715G>A	uc010pke.1	+	7	1277	c.900G>A	c.(898-900)CAG>CAA	p.Q300Q	USP21_uc010pkc.1_Silent_p.Q300Q|USP21_uc010pkd.1_Silent_p.Q300Q|USP21_uc010pkf.1_Silent_p.Q300Q	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	300					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGCCAGCAGGATGCCCAAG	0.557		NaN											0	0	0	0.004482	0	9	78				
TPR	7175	broad.mit.edu	37	1	186283842	186283842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:186283842G>A	uc001grv.2	-	50	7252	c.6955C>T	c.(6955-6957)CAA>TAA	p.Q2319*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2319					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTTTGGTTGACTACTACTA	0.333		NaN	T	NTRK1	papillary thyroid								0	0	0	0.02938	0	6	58				
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:205069074G>A	uc001hbu.1	-	8	1001	c.871C>T	c.(871-873)CAT>TAT	p.H291Y	RBBP5_uc010prd.1_Missense_Mutation_p.H326Y|RBBP5_uc001hbv.1_Missense_Mutation_p.H291Y|RBBP5_uc010pre.1_Missense_Mutation_p.H158Y	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291	WD 5.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458		NaN											0	0	0	0.01441	0	47	196				
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:5995118C>T	uc001iiv.2	-	7	826	c.744G>A	c.(742-744)CCG>CCA	p.P248P	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	248	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						CCCAAGTCACCGGCAGAGCCT	0.557		NaN											0	0	0	0.013537	0	12	82				
ERCC6	2074	broad.mit.edu	37	10	50708622	50708622	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:50708622C>G	uc001jhs.3	-	7	1801	c.1647G>C	c.(1645-1647)CTG>CTC	p.L549L	ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	549	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TGCTGTAGCTCAGACCTGCCA	0.483		NaN						Direct_reversal_of_damage|NER					0	0	0	0.020292	0	13	114				
SRGN	5552	broad.mit.edu	37	10	70863778	70863778	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:70863778G>A	uc001joz.2	+	3	465	c.379G>A	c.(379-381)GAT>AAT	p.D127N		NM_002727	NP_002718	P10124	SRGN_HUMAN	serglycin precursor	127					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen					0						AGACGAAAGTGATGCTTTCCA	0.483		NaN											0	0	0	0.00308	0	8	90				
H2AFY2	55506	broad.mit.edu	37	10	71871382	71871382	+	Silent	SNP	C	C	T	rs145574275	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:71871382C>T	uc001jqm.2	+	9	1521	c.1062C>T	c.(1060-1062)TTC>TTT	p.F354F	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	354	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TCCTGCTCTTCGACAGCGAGA	0.602		NaN											0	0	0	0.008291	0	11	46				
MRGPRX2	117194	broad.mit.edu	37	11	19077358	19077358	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:19077358G>A	uc001mph.2	-	2	680	c.592C>T	c.(592-594)CTC>TTC	p.L198F		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	198	Helical; Name=5; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GACCCACAGAGAACCATGAAT	0.517		NaN											0	0	0	0.02938	0	7	63				
CELF1	10658	broad.mit.edu	37	11	47493803	47493803	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:47493803C>T	uc001nfl.2	-	12	1450	c.1440G>A	c.(1438-1440)AAG>AAA	p.K480K	CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Silent_p.K477K|CELF1_uc001nfn.2_Silent_p.K476K|CELF1_uc001nfo.1_Silent_p.K506K|CELF1_uc010rhm.1_Silent_p.K479K|CELF1_uc001nfp.2_Silent_p.K508K|CELF1_uc001nfq.1_Silent_p.K480K|CELF1_uc001nfr.1_Silent_p.K480K	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	480					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						TGCTGTCATTCTTCGAACGTT	0.527		NaN											0	0	0	0.0333	0	18	270				
OR4X2	119764	broad.mit.edu	37	11	48267202	48267202	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:48267202G>A	uc001ngs.1	+	1	547	c.547G>A	c.(547-549)GAC>AAC	p.D183N		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCTGCTCTGACACCTTCCT	0.483		NaN											0	0	0	0.028581	0	15	266				
OR5D18	219438	broad.mit.edu	37	11	55587678	55587678	+	Silent	SNP	T	T	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:55587678T>A	uc010rin.1	+	1	573	c.573T>A	c.(571-573)TCT>TCA	p.S191S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TTTCTTGCTCTGATACTTACA	0.398		NaN											0	0	0	0.0333	0	16	133				
OR5M1	390168	broad.mit.edu	37	11	56380343	56380343	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:56380343G>A	uc001nja.1	-	1	636	c.636C>T	c.(634-636)TTC>TTT	p.F212F		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GAAGAATGATGAAGAGAGAGC	0.473		NaN											0	0	0	0.028581	0	16	98				
ATG2A	23130	broad.mit.edu	37	11	64669802	64669802	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:64669802G>C	uc001obx.2	-	28	3949	c.3834C>G	c.(3832-3834)ATC>ATG	p.I1278M	ATG2A_uc001obw.2_Missense_Mutation_p.I43M	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1278							protein binding			ovary(1)|central_nervous_system(1)	2						CACGCTGGTTGATGAGGGCCG	0.672		NaN											0	0	0	0.004672	0	3	18				
C11orf30	56946	broad.mit.edu	37	11	76171016	76171016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:76171016C>T	uc001oxl.2	+	6	601	c.458C>T	c.(457-459)CCA>CTA	p.P153L	C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Missense_Mutation_p.P168L|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Missense_Mutation_p.P154L|C11orf30_uc010rsb.1_Missense_Mutation_p.P168L|C11orf30_uc010rsc.1_Missense_Mutation_p.P168L|C11orf30_uc001oxn.2_Missense_Mutation_p.P154L|C11orf30_uc010rsd.1_Missense_Mutation_p.P167L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	153	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						ACGTCAACCCCAACCTCTACC	0.458		NaN											0	0	0	0.012213	0	33	179				
GUCY1A2	2977	broad.mit.edu	37	11	106558346	106558346	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:106558346G>C	uc001pjg.1	-	8	2518	c.2128C>G	c.(2128-2130)CTT>GTT	p.L710V	GUCY1A2_uc010rvo.1_Missense_Mutation_p.L731V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.L741V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	710					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GACGAAGAAAGAGAAGGCTTT	0.488		NaN											0	0	0	0.024245	0	16	154				
FDXACB1	91893	broad.mit.edu	37	11	111746739	111746739	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:111746739C>A	uc001pmc.3	-	5	1079	c.782G>T	c.(781-783)AGG>ATG	p.R261M	ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R112M	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	261					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						ACACTTCAGCCTTTTTAGCGG	0.423		NaN											1	0	1.67942e-08	0.006122	1.75023e-08	19	108				
NLRX1	79671	broad.mit.edu	37	11	119045225	119045225	+	Missense_Mutation	SNP	C	C	T	rs149154497		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:119045225C>T	uc001pvu.2	+	6	1128	c.913C>T	c.(913-915)CGC>TGC	p.R305C	NLRX1_uc010rzc.1_Missense_Mutation_p.R127C|NLRX1_uc001pvv.2_Missense_Mutation_p.R305C|NLRX1_uc001pvw.2_Missense_Mutation_p.R305C|NLRX1_uc001pvx.2_Missense_Mutation_p.R305C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	305	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTACGTGGGCCGCTATGGTGA	0.567		NaN											0	0	0	0.010729	0	12	194				
PZP	5858	broad.mit.edu	37	12	9313698	9313698	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:9313698C>G	uc001qvl.2	-	23	2832	c.2803G>C	c.(2803-2805)GAG>CAG	p.E935Q	PZP_uc009zgl.2_Missense_Mutation_p.E721Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.L166L	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GACAACTGCTCAGACACATTA	0.353		NaN											0	0	0	0.010818	0	31	86				
RECQL	5965	broad.mit.edu	37	12	21624476	21624476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:21624476G>A	uc001rex.2	-	14	1901	c.1553C>T	c.(1552-1554)TCT>TTT	p.S518F	RECQL_uc001rey.2_Missense_Mutation_p.S518F	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	518					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCCCATCCAAGAATCAATCAG	0.423		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.028581	0	16	159				
DENND5B	160518	broad.mit.edu	37	12	31604940	31604940	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:31604940G>A	uc001rki.1	-	5	1749	c.1563C>T	c.(1561-1563)GTC>GTT	p.V521V	DENND5B_uc001rkh.1_Silent_p.V556V|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.V543V|DENND5B_uc001rkk.1_Silent_p.V443V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	521	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CAGTCTGAATGACAAATGCTT	0.443		NaN											0	0	0	0.010729	0	11	103				
SPATS2	65244	broad.mit.edu	37	12	49883353	49883353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:49883353G>A	uc001rud.2	+	5	1200	c.211G>A	c.(211-213)GAA>AAA	p.E71K	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E71K|SPATS2_uc001ruf.2_Missense_Mutation_p.E71K|SPATS2_uc001rug.2_Missense_Mutation_p.E71K	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	71						cytoplasm				breast(1)	1						AGCATTCATGGAAGGTAATCC	0.328		NaN											0	0	0	0.008291	0	10	43				
KRT79	338785	broad.mit.edu	37	12	53225239	53225239	+	Missense_Mutation	SNP	C	C	A	rs140032117	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:53225239C>A	uc001sbb.2	-	2	682	c.649G>T	c.(649-651)GAC>TAC	p.D217Y	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	217	Rod.|Coil 1B.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						AGCTCTGAGTCCAGCCTCCCC	0.622		NaN											1	0	2.09667e-21	0.017118	2.25294e-21	31	115				
NCKAP1L	3071	broad.mit.edu	37	12	54901657	54901657	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:54901657C>G	uc001sgc.3	+	4	406	c.327C>G	c.(325-327)CTC>CTG	p.L109L	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L59L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	109					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ATGAACTTCTCAACACCATTG	0.423		NaN											0	0	0	0.01441	0	42	158				
CDK2	1017	broad.mit.edu	37	12	56361840	56361840	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:56361840G>A	uc001sit.3	+	3	439	c.202G>A	c.(202-204)GAT>AAT	p.D68N	CDK2_uc001siu.3_Missense_Mutation_p.D68N|CDK2_uc010spy.1_Missense_Mutation_p.D42N	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	68	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TAGGCTGCTGGATGTCATTCA	0.443		NaN											0	0	0	0.024245	0	16	104				
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:106820980A>T	uc001tlp.2	+	13	1329	c.1107A>T	c.(1105-1107)TTA>TTT	p.L369F	POLR3B_uc001tlq.2_Missense_Mutation_p.L311F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	369					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTAGCTTTTATCTCTTCTTT	0.269		NaN											0	0	0	0.00308	0	6	12				
TCTN1	79600	broad.mit.edu	37	12	111072480	111072480	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111072480C>T	uc009zvs.2	+	6	826	c.718C>T	c.(718-720)CTG>TTG	p.L240L	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.L180L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Intron|TCTN1_uc001trn.3_Silent_p.L240L|TCTN1_uc001trj.1_Silent_p.L184L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	240					multicellular organismal development	extracellular region					0						TCTAGCGTTTCTGGTGAACCA	0.343		NaN											0	0	0	0.009096	0	4	20				
CUX2	23316	broad.mit.edu	37	12	111785494	111785494	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111785494G>C	uc001tsa.1	+	22	3979	c.3826G>C	c.(3826-3828)GAG>CAG	p.E1276Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGGAACTGGAGCTTCAGGA	0.617		NaN											0	0	0	0.006214	0	10	66				
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr13:110434606T>G	uc001vqv.2	-	1	4309	c.3795A>C	c.(3793-3795)CCA>CCC	p.P1265P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.512		NaN											0	0	0	0.020292	0	8	12				
SUPT16H	11198	broad.mit.edu	37	14	21852042	21852042	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:21852042C>T	uc001wao.2	-	1	384	c.45G>A	c.(43-45)AAG>AAA	p.K15K	SUPT16H_uc001wap.2_Silent_p.K15K|SUPT16H_uc001waq.1_Silent_p.K15K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	15					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTACAGTCTCTTCACTCGCC	0.547		NaN											0	0	0	0.006214	0	8	74				
SMEK1	55671	broad.mit.edu	37	14	91937257	91937257	+	Missense_Mutation	SNP	C	C	G	rs148837810		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937257C>G	uc001xzn.2	-	10	2406	c.1584G>C	c.(1582-1584)AAG>AAC	p.K528N	SMEK1_uc001xzm.2_Missense_Mutation_p.K515N|SMEK1_uc001xzo.2_Missense_Mutation_p.K515N|SMEK1_uc010atz.2_Missense_Mutation_p.K289N|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	528						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TAATGTAGTTCTTTATGTGGT	0.358		NaN											0	0	0	0.007413	0	18	65				
SMEK1	55671	broad.mit.edu	37	14	91937337	91937337	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937337C>T	uc001xzn.2	-	10	2326	c.1504G>A	c.(1504-1506)GAT>AAT	p.D502N	SMEK1_uc001xzm.2_Missense_Mutation_p.D489N|SMEK1_uc001xzo.2_Missense_Mutation_p.D489N|SMEK1_uc010atz.2_Missense_Mutation_p.D263N|SMEK1_uc001xzp.1_RNA	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	502						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTCTGAAAATCATCTAAAAGA	0.289		NaN											0	0	0	0.020292	0	11	47				
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:93125804C>G	uc001yap.2	+	7	2477	c.2325C>G	c.(2323-2325)CTC>CTG	p.L775L	RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582		NaN											0	0	0	0.008291	0	9	76				
IQCH	64799	broad.mit.edu	37	15	67793052	67793052	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:67793052G>A	uc002aqo.1	+	21	3099	c.3052G>A	c.(3052-3054)GAT>AAT	p.D1018N	IQCH_uc002aqq.1_Missense_Mutation_p.D675N|IQCH_uc002aqp.1_3'UTR|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	1018										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		ACAGTCCAAAGATGATAAAAA	0.328		NaN											0	0	0	0.00308	0	7	57				
LBXCOR1	390598	broad.mit.edu	37	15	68118511	68118511	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:68118511G>A	uc002aqy.1	+	2	318	c.318G>A	c.(316-318)GAG>GAA	p.E106E		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	115					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GCTATAATGAGATCCACAACC	0.632		NaN											0	0	0	0.010729	0	10	80				
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:69238236C>G	uc002arn.1	+	2	491	c.363C>G	c.(361-363)TTC>TTG	p.F121L	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	121					multicellular organismal development	acrosomal vesicle					0						GTACCCCATTCTGGTCGATCA	0.428		NaN											0	0	0	0.013537	0	11	70				
PARP6	56965	broad.mit.edu	37	15	72552921	72552921	+	Silent	SNP	C	C	T	rs28625945		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:72552921C>T	uc002auc.2	-	9	1113	c.654G>A	c.(652-654)AAG>AAA	p.K218K	PARP6_uc002aua.2_Silent_p.K83K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.K218K	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	218							NAD+ ADP-ribosyltransferase activity				0						CTTTGGGGTTCTTCATGGTAC	0.582		NaN											0	0	0	0.01441	0	69	442				
ISLR2	57611	broad.mit.edu	37	15	74425216	74425216	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:74425216G>C	uc002axd.2	+	4	890	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	ISLR2_uc002axe.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjg.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjf.2_Missense_Mutation_p.E41Q	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	41	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGCTTACAAAGAGTTGCGTGA	0.637		NaN											0	0	0	0.010729	0	10	89				
SRCAP	10847	broad.mit.edu	37	16	30731577	30731577	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:30731577G>T	uc002dze.1	+	19	3297	c.2912G>T	c.(2911-2913)CGC>CTC	p.R971L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R828L|SRCAP_uc010bzz.1_Missense_Mutation_p.R541L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	971					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGCCTCTCTCGCCGGGTACTG	0.567		NaN											1	0	5.44703e-19	0.036044	5.81689e-19	43	212		Valid		
TMCO7	79613	broad.mit.edu	37	16	68901008	68901008	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:68901008G>A	uc002ewi.3	+	4	891	c.879G>A	c.(877-879)ATG>ATA	p.M293I	TMCO7_uc002ewh.2_Missense_Mutation_p.M293I	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	293						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGACACAGATGAGGTGTCGGG	0.502		NaN											0	0	0	0.008291	0	11	109				
SDR42E1	93517	broad.mit.edu	37	16	82033729	82033729	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:82033729C>G	uc002fgu.2	-	3	297	c.169G>C	c.(169-171)GAC>CAC	p.D57H		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	57					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						TGGCGGATGTCTCCTTGTATA	0.498		NaN											0	0	0	0.020292	0	13	156				
SMYD4	114826	broad.mit.edu	37	17	1704306	1704306	+	Missense_Mutation	SNP	C	C	T	rs151287405		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:1704306C>T	uc002ftm.3	-	5	550	c.382G>A	c.(382-384)GAC>AAC	p.D128N	SMYD4_uc002ftn.1_5'UTR	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	128							zinc ion binding			skin(3)|kidney(2)	5						CTGTTAATGTCTTTAAGACAC	0.418		NaN											0	0	0	0.020292	0	14	137				
P2RX1	5023	broad.mit.edu	37	17	3801112	3801112	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3801112G>C	uc002fww.2	-	12	1637	c.1196C>G	c.(1195-1197)TCC>TGC	p.S399C		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	399	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGAGCATCAGGATGTCCTCAT	0.642		NaN											0	0	0	0.006214	0	8	17				
ZZEF1	23140	broad.mit.edu	37	17	3954291	3954291	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3954291G>A	uc002fxe.2	-	36	5711	c.5647C>T	c.(5647-5649)CGG>TGG	p.R1883W	ZZEF1_uc002fxh.2_Missense_Mutation_p.R197W|ZZEF1_uc002fxi.2_Missense_Mutation_p.R118W|ZZEF1_uc002fxj.1_Missense_Mutation_p.R496W	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1883							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCACTGATCCGAATGGTTACC	0.532		NaN											0	0	0	0.016522	0	23	49				
ZZEF1	23140	broad.mit.edu	37	17	3977490	3977490	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3977490C>T	uc002fxe.2	-	24	3703	c.3639G>A	c.(3637-3639)CTG>CTA	p.L1213L		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1213							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGCGTCCCATCAGCCGGGAGA	0.572		NaN											0	0	0	0.016723	0	13	197				
NEURL4	84461	broad.mit.edu	37	17	7225069	7225069	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7225069G>A	uc002gga.1	-	18	2916	c.2909C>T	c.(2908-2910)TCC>TTC	p.S970F	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.S968F|NEURL4_uc002ggc.1_Missense_Mutation_p.S316F	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	970	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGCCGCAGGGAACCTGCCCA	0.642		NaN											0	0	0	0.004482	0	9	48				
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7578272G>A	uc002gim.2	-	6	771	c.577C>T	c.(577-579)CAT>TAT	p.H193Y	TP53_uc002gig.1_Missense_Mutation_p.H193Y|TP53_uc002gih.2_Missense_Mutation_p.H193Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61Y|TP53_uc010cng.1_Missense_Mutation_p.H61Y|TP53_uc002gii.1_Missense_Mutation_p.H61Y|TP53_uc010cnh.1_Missense_Mutation_p.H193Y|TP53_uc010cni.1_Missense_Mutation_p.H193Y|TP53_uc002gij.2_Missense_Mutation_p.H193Y|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100Y|TP53_uc002gio.2_Missense_Mutation_p.H61Y|TP53_uc010vug.1_Missense_Mutation_p.H154Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGATAAGATGCTGAGGAGGG	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.0333	0	18	41		Valid		
SMCR7	125170	broad.mit.edu	37	17	18167607	18167607	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167607G>A	uc002gst.2	+	4	1105	c.894G>A	c.(892-894)GAG>GAA	p.E298E	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.E309E	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	298						integral to membrane	protein binding				0	all_neural(463;0.228)					AACGCCTGGAGCTCACTGTGG	0.682		NaN											0	0	0	0.02938	0	7	92				
SMCR7	125170	broad.mit.edu	37	17	18167950	18167950	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167950G>C	uc002gst.2	+	4	1448	c.1237G>C	c.(1237-1239)GAG>CAG	p.E413Q	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.E424Q	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	413						integral to membrane	protein binding				0	all_neural(463;0.228)					CGGCAGCCTGGAGCAGGCCAG	0.622		NaN											0	0	0	0.021553	0	6	55				
TNFAIP1	7126	broad.mit.edu	37	17	26669328	26669328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:26669328C>T	uc002hax.1	+	6	593	c.574C>T	c.(574-576)CGC>TGC	p.R192C	TNFAIP1_uc002hay.2_Missense_Mutation_p.R192C|TNFAIP1_uc010waf.1_Missense_Mutation_p.R88C	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	192					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTCTCCCTGCGCTTCAACGG	0.547		NaN											0	0	0	0.004482	0	9	41				
RNF135	84282	broad.mit.edu	37	17	29325811	29325811	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:29325811C>G	uc002hfz.2	+	5	1037	c.901C>G	c.(901-903)CAG>GAG	p.Q301E	RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	ring finger protein 135 isoform 1	301	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		skin(2)	2		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TTCTACCAGCCAGGTCTTATG	0.557		NaN											0	0	0	0.02938	0	7	72				
ERBB2	2064	broad.mit.edu	37	17	37881392	37881392	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:37881392A>G	uc002hso.2	+	21	2822	c.2584A>G	c.(2584-2586)ACA>GCA	p.T862A	ERBB2_uc002hsm.2_Missense_Mutation_p.T832A|ERBB2_uc010cwa.2_Missense_Mutation_p.T847A|ERBB2_uc002hsp.2_Missense_Mutation_p.T665A|ERBB2_uc010cwb.2_Missense_Mutation_p.T862A|ERBB2_uc010wek.1_Missense_Mutation_p.T586A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	862	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T862A(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCAAAATTACAGACTTCGG	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.028581	0	15	72		Valid		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:39261693A>T	uc010wfp.1	+	1	53	c.53A>T	c.(52-54)GAC>GTC	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament					0						TGCGGCCAAGACCTCTGTCAG	0.627		NaN											0	0	0	0.006214	0	9	43				
PLEKHH3	79990	broad.mit.edu	37	17	40823447	40823447	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:40823447C>T	uc002iau.2	-	8	1673	c.1206G>A	c.(1204-1206)CAG>CAA	p.Q402Q	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.Q402Q	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	402					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACAGCAGCTCCTGCCGTTGGC	0.677		NaN											0	0	0	0.021553	0	5	41				
WFIKKN2	124857	broad.mit.edu	37	17	48917592	48917592	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:48917592G>A	uc002isv.3	+	2	1637	c.943G>A	c.(943-945)GAG>AAG	p.E315K	WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222K	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	315						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657		NaN											0	0	0	0.006214	0	9	71				
TEX2	55852	broad.mit.edu	37	17	62248557	62248557	+	Silent	SNP	G	G	C	rs112066687		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62248557G>C	uc002jec.2	-	7	2747	c.2574C>G	c.(2572-2574)CTC>CTG	p.L858L	TEX2_uc002jed.2_Silent_p.L865L|TEX2_uc002jee.2_Silent_p.L858L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	858					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAAGTAGGGGAGCTAGAGGA	0.493		NaN											0	0	0	0.014758	0	5	38				
DDX5	1655	broad.mit.edu	37	17	62502215	62502215	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62502215C>T	uc002jek.2	-	1	270	c.23G>A	c.(22-24)CGA>CAA	p.R8Q	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.R8Q|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	8					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCGCGGTCTCGGTCACTCGA	0.652		NaN	T	ETV4	prostate								0	0	0	0.014758	0	4	9				
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:76547693C>G	uc002jvv.1	-	12	1527	c.1421G>C	c.(1420-1422)CGA>CCA	p.R474P						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.338		NaN											0	0	0	0.00308	0	7	95				
TUBB6	84617	broad.mit.edu	37	18	12308761	12308761	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:12308761G>A	uc002kqw.2	+	2	178	c.133G>A	c.(133-135)GAG>AAG	p.E45K	TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E45K|TUBB6_uc002kqy.2_Missense_Mutation_p.E45K	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	45					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GCTGCAGCTGGAGAGAATCAA	0.662		NaN											0	0	0	0.0333	0	16	76				
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:71797676G>A	uc002lle.2	-	4	658	c.322C>T	c.(322-324)CCA>TCA	p.P108S	FBXO15_uc002llf.2_Missense_Mutation_p.P184S	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	108										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433		NaN											0	0	0	0.004482	0	8	74				
FSD1	79187	broad.mit.edu	37	19	4305978	4305978	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:4305978G>A	uc002lzy.2	+	2	204	c.51G>A	c.(49-51)GTG>GTA	p.V17V	FSD1_uc010xie.1_Intron|FSD1_uc010xif.1_Intron|FSD1_uc002lzz.2_Silent_p.V17V	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	17	Potential.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGCTGTGAAGAATGAAG	0.418		NaN											0	0	0	0.014323	0	19	58				
C19orf57	79173	broad.mit.edu	37	19	14000230	14000230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:14000230G>A	uc002mxl.1	-	6	1498	c.1439C>T	c.(1438-1440)TCT>TTT	p.S480F	C19orf57_uc002mxk.1_Missense_Mutation_p.S362F|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	480					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGCACAACAGAGGCTTGCGG	0.607		NaN											0	0	0	0.010729	0	11	116				
UNC13A	23025	broad.mit.edu	37	19	17746845	17746845	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:17746845G>A	uc002nhd.2	-	26	3467	c.3467C>T	c.(3466-3468)CCC>CTC	p.P1156L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1068					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTTGAGGCAGGGAGTGTAGGA	0.448		NaN											0	0	0	0.021553	0	6	20				
ZNF257	113835	broad.mit.edu	37	19	22271790	22271790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:22271790C>G	uc010ecx.2	+	4	1407	c.1238C>G	c.(1237-1239)TCA>TGA	p.S413*	ZNF257_uc010ecy.2_Nonsense_Mutation_p.S381*	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	413	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACTGGTCCTCAGCTCTTACT	0.398		NaN											0	0	0	0.006214	0	10	33				
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:44792882G>C	uc002oza.3	-	5	809	c.706C>G	c.(706-708)CAT>GAT	p.H236D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H232D|ZNF235_uc010xwx.1_Missense_Mutation_p.H150D	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358		NaN											0	0	0	0.00308	0	7	96				
PIH1D1	55011	broad.mit.edu	37	19	49954759	49954759	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:49954759C>T	uc002pns.2	-	1	357	c.73G>A	c.(73-75)GAG>AAG	p.E25K	PIH1D1_uc010yap.1_Missense_Mutation_p.E25K|PIH1D1_uc010yaq.1_Missense_Mutation_p.E25K|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	25					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGCAGCTCCTCAAATCGCGCC	0.602		NaN											0	0	0	0.02938	0	6	90				
ZNF615	284370	broad.mit.edu	37	19	52497183	52497183	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:52497183G>C	uc002pye.1	-	6	1438	c.1146C>G	c.(1144-1146)ACC>ACG	p.T382T	ZNF615_uc002pyf.1_Silent_p.T393T|ZNF615_uc002pyg.1_Silent_p.T274T|ZNF615_uc002pyh.1_Silent_p.T393T|ZNF615_uc010epi.1_Silent_p.T389T|ZNF615_uc010ydg.1_Silent_p.T387T	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	382	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTCTTCAAGGTGAAGCCTT	0.398		NaN											0	0	0	0.006214	0	10	93				
C2orf77	129881	broad.mit.edu	37	2	170502423	170502423	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:170502423G>C	uc002ufe.2	-	9	1681	c.1587C>G	c.(1585-1587)CTC>CTG	p.L529L		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	529											0						TATAAAAAGGGAGCTGGACTC	0.408		NaN											0	0	0	0.016522	0	25	71				
SPHKAP	80309	broad.mit.edu	37	2	228882660	228882660	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:228882660C>T	uc002vpq.2	-	7	2957	c.2910G>A	c.(2908-2910)ATG>ATA	p.M970I	SPHKAP_uc002vpp.2_Missense_Mutation_p.M970I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M970I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	970						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTTGGGTGTCATCAGAAACT	0.527		NaN											0	0	0	0.016723	0	13	98				
HTR2B	3357	broad.mit.edu	37	2	231978477	231978477	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:231978477G>A	uc002vro.2	-	3	1024	c.519C>T	c.(517-519)TTC>TTT	p.F173F	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	173	Helical; Name=4; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TAATCTTGATGAATGCTGTAG	0.428		NaN											0	0	0	0.016723	0	12	229				
EIF4E2	9470	broad.mit.edu	37	2	233421234	233421234	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:233421234G>C	uc002vta.2	+	2	207	c.129G>C	c.(127-129)AAG>AAC	p.K43N	EIF4E2_uc002vtb.1_Missense_Mutation_p.K43N|EIF4E2_uc002vsz.2_Missense_Mutation_p.K43N|EIF4E2_uc010zmi.1_Missense_Mutation_p.K43N	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	43					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCAGTAGCAAGAGAAAGGTGA	0.408		NaN											0	0	0	0.009096	0	4	23				
GBX2	2637	broad.mit.edu	37	2	237074842	237074842	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:237074842G>T	uc002vvw.1	-	2	800	c.762C>A	c.(760-762)TTC>TTA	p.F254L	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	254	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCTCGCTGGTGAAGGCAGTCC	0.672		NaN											1	0	0.000274275	0.004482	0.000280767	8	61				
NINL	22981	broad.mit.edu	37	20	25472060	25472060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:25472060G>A	uc002wux.1	-	11	1486	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	NINL_uc010gdn.1_Missense_Mutation_p.A471V|NINL_uc010gdo.1_Missense_Mutation_p.A254V|NINL_uc010ztf.1_Missense_Mutation_p.A487V	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	471					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CCACTCCAGCGCGGCCCTCTG	0.692		NaN											0	0	0	0.010729	0	10	76				
ZNF334	55713	broad.mit.edu	37	20	45140739	45140739	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:45140739C>T	uc002xsc.2	-	2	187	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TTTTCATTTTCATGTTCTCTT	0.403		NaN											0	0	0	0.004482	0	8	71				
LSS	4047	broad.mit.edu	37	21	47614422	47614422	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr21:47614422C>T	uc002zij.2	-	20	2050	c.1971G>A	c.(1969-1971)ATG>ATA	p.M657I	LSS_uc011afv.1_Missense_Mutation_p.M646I|LSS_uc002zil.2_Missense_Mutation_p.M657I|LSS_uc002zik.2_Missense_Mutation_p.M577I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	657					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CCATCAGCCCCATCATGGCCC	0.632		NaN											0	0	0	0.009096	0	4	34				
ZNF280A	129025	broad.mit.edu	37	22	22869055	22869055	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:22869055G>A	uc002zwe.2	-	2	1153	c.900C>T	c.(898-900)TGC>TGT	p.C300C	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CGCAGCTGAGGCATTTAAAGG	0.413		NaN											0	0	0	0.013726	0	35	179				
NIPSNAP1	8508	broad.mit.edu	37	22	29966488	29966488	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:29966488G>A	uc003afx.3	-	2	205	c.132C>T	c.(130-132)TTC>TTT	p.F44F	NIPSNAP1_uc011akp.1_Silent_p.F24F	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1	44								p.?(1)		skin(1)	1						AGAGGGAGCGGAACCAGCTGC	0.552		NaN											0	0	0	0.014758	0	4	32				
SLC5A1	6523	broad.mit.edu	37	22	32506039	32506039	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:32506039C>T	uc003amc.2	+	15	2066	c.1834C>T	c.(1834-1836)CTA>TTA	p.L612L	SLC5A1_uc011alz.1_Silent_p.L485L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	612	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						ATTTTGTGGGCTAGAGCAGCA	0.468		NaN											0	0	0	0.028581	0	15	74				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44083357C>T	uc003bdy.1	-	11	1351	c.1136G>A	c.(1135-1137)AGA>AAA	p.R379K	EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308		NaN											0	0	0	0.004482	0	9	31				
LDOC1L	84247	broad.mit.edu	37	22	44892894	44892894	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44892894G>C	uc003beu.1	-	2	880	c.543C>G	c.(541-543)CTC>CTG	p.L181L		NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	181										ovary(1)	1		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCGCATGCCGGAGCGGAGACT	0.622		NaN											0	0	0	0.006122	0	19	29				
C3orf20	84077	broad.mit.edu	37	3	14756871	14756871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:14756871G>A	uc003byy.2	+	9	1793	c.1389G>A	c.(1387-1389)TGG>TGA	p.W463*	C3orf20_uc003byz.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bza.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	463						cytoplasm|integral to membrane		p.W463*(1)		ovary(3)|skin(1)	4						TCCACAAGTGGAGCTGGACTT	0.537		NaN											0	0	0	0.02938	0	7	68				
TMPPE	643853	broad.mit.edu	37	3	33134911	33134911	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:33134911G>A	uc003cfk.2	-	2	968	c.777C>T	c.(775-777)GTC>GTT	p.V259V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.V122V	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	259						integral to membrane	metal ion binding				0						CCAGAGGAGCGACAGCCGTCC	0.537		NaN											0	0	0	0.030593	0	24	86				
SCN5A	6331	broad.mit.edu	37	3	38591869	38591869	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:38591869A>G	uc003cio.2	-	28	6188	c.5994T>C	c.(5992-5994)AGT>AGC	p.S1998S	SCN5A_uc003cin.2_Silent_p.S1997S|SCN5A_uc003cil.3_Silent_p.S1998S|SCN5A_uc010hhi.2_Silent_p.S1980S|SCN5A_uc010hhk.2_Silent_p.S1965S|SCN5A_uc011ayr.1_Silent_p.S1944S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1998					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGATCTTCACTGTGGCTGT	0.597		NaN											0	0	0	0.0333	0	15	91				
PHLDB2	90102	broad.mit.edu	37	3	111604194	111604194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:111604194G>A	uc010hqa.2	+	2	1681	c.1270G>A	c.(1270-1272)GAC>AAC	p.D424N	PHLDB2_uc003dyc.2_Missense_Mutation_p.D451N|PHLDB2_uc003dyd.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyg.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyh.2_Missense_Mutation_p.D424N|PHLDB2_uc003dye.3_Missense_Mutation_p.D424N|PHLDB2_uc003dyf.3_Missense_Mutation_p.D424N	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	424						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGGACGTGATGACCTGATGGA	0.522		NaN											0	0	0	0.008291	0	10	113				
PARP9	83666	broad.mit.edu	37	3	122259634	122259634	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:122259634G>A	uc010hri.2	-	8	1700	c.1555C>T	c.(1555-1557)CTG>TTG	p.L519L	PARP9_uc003eff.3_Silent_p.L484L|PARP9_uc011bjs.1_Silent_p.L484L|PARP9_uc003efg.2_Silent_p.L64L|PARP9_uc003efi.2_Silent_p.L484L|PARP9_uc003efh.2_Silent_p.L519L|PARP9_uc003efj.2_Silent_p.L484L	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	519					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		AATCCCATCAGATTGATGGCA	0.438		NaN											0	0	0	0.004482	0	9	161				
COL6A6	131873	broad.mit.edu	37	3	130293317	130293317	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:130293317G>A	uc010htl.2	+	7	3526	c.3495G>A	c.(3493-3495)AAG>AAA	p.K1165K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1165	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATGAACTGAAGAAGGTCAATA	0.463		NaN											0	0	0	0.028581	0	17	61				
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:133524732G>A	uc003epx.1	+	1	56	c.40G>A	c.(40-42)GGT>AGT	p.G14S		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta	14						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						AGATGGCGGCGGTGCCGGGGG	0.672		NaN											0	0	0	0.010504	0	21	61				
PLD1	5337	broad.mit.edu	37	3	171404524	171404524	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:171404524G>A	uc003fhs.2	-	16	1934	c.1818C>T	c.(1816-1818)CTC>CTT	p.L606L	PLD1_uc003fht.2_Intron	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	606	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACGGGTGAAAGAGTTTGAAGT	0.368		NaN											0	0	0	0.007413	0	17	185				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.02938	0	6	87		Valid		
FXR1	8087	broad.mit.edu	37	3	180675620	180675620	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:180675620A>G	uc003fkq.2	+	10	916	c.894A>G	c.(892-894)GGA>GGG	p.G298G	FXR1_uc003fkp.2_Silent_p.G213G|FXR1_uc003fkr.2_Silent_p.G298G|FXR1_uc011bqj.1_Silent_p.G212G|FXR1_uc003fks.2_Silent_p.G212G|FXR1_uc011bqk.1_Silent_p.G249G|FXR1_uc011bql.1_Silent_p.G285G	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	298	KH 2.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAGTAATTGGAAAAAATGGCA	0.343		NaN											0	0	0	0.008291	0	10	76				
PTPN13	5783	broad.mit.edu	37	4	87671842	87671842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:87671842C>G	uc003hpz.2	+	18	3350	c.2870C>G	c.(2869-2871)GCT>GGT	p.A957G	PTPN13_uc003hpy.2_Missense_Mutation_p.A957G|PTPN13_uc003hqa.2_Missense_Mutation_p.A957G|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	957						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGACAAAGCTTCATGGGAG	0.423		NaN											0	0	0	0.008291	0	11	32				
SLC25A31	83447	broad.mit.edu	37	4	128651894	128651894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:128651894G>T	uc003ifl.2	+	1	340	c.194G>T	c.(193-195)GGC>GTC	p.G65V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	65	Solcar 1.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						CGGTACAAAGGCATGGTGGAC	0.677		NaN											1	0	0.000602214	0.014758	0.000609258	5	33				
ADAM29	11086	broad.mit.edu	37	4	175899002	175899002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:175899002C>T	uc003iuc.2	+	5	2996	c.2326C>T	c.(2326-2328)CAG>TAG	p.Q776*	ADAM29_uc003iud.2_Nonsense_Mutation_p.Q776*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q776*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q776*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	776	Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|5.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCCTTCTCAGAGTCAACC	0.567		NaN											0	0	0	0.020292	0	14	115				
PRDM9	56979	broad.mit.edu	37	5	23526534	23526534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:23526534G>A	uc003jgo.2	+	11	1519	c.1337G>A	c.(1336-1338)AGC>AAC	p.S446N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	446					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GATCCACACAGCCGTAATGAC	0.473		NaN								HNSCC(3;0.000094)			0	0	0	0.01441	0	69	67				
PDZD2	23037	broad.mit.edu	37	5	32091004	32091004	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:32091004G>A	uc003jhl.2	+	20	7838	c.7450G>A	c.(7450-7452)GAG>AAG	p.E2484K	PDZD2_uc003jhm.2_Missense_Mutation_p.E2484K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2484					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAAGCTCCAGGAGCTGAGAGC	0.592		NaN											0	0	0	0.010729	0	12	171				
SPINK5	11005	broad.mit.edu	37	5	147481356	147481356	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:147481356G>A	uc003lox.2	+	15	1388	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K	SPINK5_uc010jgs.1_Missense_Mutation_p.E411K|SPINK5_uc010jgr.2_Missense_Mutation_p.E420K|SPINK5_uc003low.2_Missense_Mutation_p.E439K|SPINK5_uc003loy.2_Missense_Mutation_p.E439K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	439	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTGTAGTGAATACCGCAA	0.428		NaN											0	0	0	0.004482	0	8	76				
TBC1D9B	23061	broad.mit.edu	37	5	179290667	179290667	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:179290667G>A	uc003mlh.2	-	22	3571	c.3534C>T	c.(3532-3534)GGC>GGT	p.G1178G	TBC1D9B_uc003mli.2_Silent_p.G1161G|TBC1D9B_uc003mlj.2_Silent_p.G1160G|TBC1D9B_uc003mlf.2_Silent_p.G252G|TBC1D9B_uc003mlg.2_Silent_p.G337G|TBC1D9B_uc011dgv.1_Silent_p.G337G	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1178						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCCGCCCACCAGCA	0.627		NaN											0	0	0	0.010729	0	12	54				
PHACTR1	221692	broad.mit.edu	37	6	13273104	13273104	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:13273104G>C	uc010jpc.2	+	11	1736	c.1404G>C	c.(1402-1404)CAG>CAC	p.Q468H	PHACTR1_uc003nag.1_Missense_Mutation_p.Q468H|PHACTR1_uc003nah.1_Missense_Mutation_p.Q468H|TBC1D7_uc003naj.2_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	468	RPEL 3.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCTGAGCCAGAGGCCAACTG	0.458		NaN											0	0	0	0.010504	0	21	289				
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:26188994C>T	uc003ngu.2	-	1	311	c.311G>A	c.(310-312)TGA>TAA	p.*104*		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	104					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537		NaN											0	0	0	0.004482	0	8	61				
NOTCH4	4855	broad.mit.edu	37	6	32163377	32163377	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32163377G>A	uc003obb.2	-	30	5988	c.5849C>T	c.(5848-5850)CCC>CTC	p.P1950L	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P610L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1950	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CCAATCACAGGGCCAGTCATC	0.647		NaN											0	0	0	0.013537	0	13	111				
PSMB8	5696	broad.mit.edu	37	6	32810816	32810816	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32810816C>T	uc003oce.2	-	2	241	c.198G>A	c.(196-198)CAG>CAA	p.Q66Q	PSMB8_uc003ocf.2_Silent_p.Q62Q|PSMB8_uc011dqh.1_Silent_p.Q66Q	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						CCATCTCAATCTGAACGTTCC	0.507		NaN											0	0	0	0.004482	0	7	69				
TDRD6	221400	broad.mit.edu	37	6	46657366	46657366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:46657366G>C	uc003oyj.2	+	1	1501	c.1501G>C	c.(1501-1503)GAG>CAG	p.E501Q	TDRD6_uc010jze.2_Missense_Mutation_p.E495Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	501					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAATCCTTCTGAGTTTTGGAT	0.413		NaN											0	0	0	0.036044	0	45	125				
RTN4IP1	84816	broad.mit.edu	37	6	107067168	107067168	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:107067168G>C	uc003prj.2	-	4	1006	c.529C>G	c.(529-531)CAA>GAA	p.Q177E	RTN4IP1_uc010kdd.2_Missense_Mutation_p.Q177E|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q77E	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	177						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAGGCAGCTTGAGTATGAGTG	0.413		NaN											0	0	0	0.008291	0	10	78				
GPRC6A	222545	broad.mit.edu	37	6	117128203	117128203	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:117128203C>T	uc003pxj.1	-	3	687	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	GPRC6A_uc003pxk.1_Missense_Mutation_p.R222Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R222Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	222	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGAGCCAATCGTCCATAGTC	0.408		NaN											0	0	0	0.016723	0	13	194				
UST	10090	broad.mit.edu	37	6	149262491	149262491	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:149262491G>A	uc003qmg.2	+	3	664	c.368G>A	c.(367-369)AGA>AAA	p.R123K		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	123	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTGCTTCTGAGAATCTTGTCG	0.438		NaN											0	0	0	0.004482	0	9	159				
FKBP14	55033	broad.mit.edu	37	7	30066007	30066007	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30066007G>A	uc003tal.1	-	1	262	c.118C>T	c.(118-120)CGC>TGC	p.R40C	PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TTGGTCTTGCGATGGCAGATG	0.468		NaN											0	0	0	0.004482	0	8	119				
AQP1	358	broad.mit.edu	37	7	30962182	30962182	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30962182G>T	uc003tbv.1	+	3	610	c.553G>T	c.(553-555)GAC>TAC	p.D185Y	AQP1_uc011kac.1_Missense_Mutation_p.D245Y|AQP1_uc010kwf.1_Missense_Mutation_p.D102Y|AQP1_uc010kwg.1_Missense_Mutation_p.D66Y|AQP1_uc010kwh.1_Missense_Mutation_p.D134Y	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	185	Extracellular.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	ctcACAGATTGACTACACTGG	0.313		NaN											1	0	5.26018e-13	0.012319	5.54885e-13	19	307				
AMPH	273	broad.mit.edu	37	7	38431407	38431407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:38431407T>C	uc003tgu.2	-	19	1889	c.1820A>G	c.(1819-1821)GAC>GGC	p.D607G	AMPH_uc003tgv.2_Missense_Mutation_p.D565G|AMPH_uc003tgt.2_Missense_Mutation_p.D492G|AMPH_uc003tgw.1_Missense_Mutation_p.D630G|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	607					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TGCTAGCTGGTCAGCAGCCCC	0.547		NaN											0	0	0	0.02938	0	5	45				
RABGEF1	27342	broad.mit.edu	37	7	66240337	66240337	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:66240337G>A	uc011kee.1	+	3	509	c.345G>A	c.(343-345)GTG>GTA	p.V115V	RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.V101V|RABGEF1_uc003tvh.2_Silent_p.V101V|RABGEF1_uc003tvi.2_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	279					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TTACCACAGTGAAGAAATTCT	0.468		NaN											0	0	0	0.021553	0	6	66				
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:100468309C>T	uc003uww.2	+	6	1113	c.943C>T	c.(943-945)CGC>TGC	p.R315C	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	315	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617		NaN											0	0	0	0.02938	0	6	44				
AKR1B15	441282	broad.mit.edu	37	7	134260673	134260673	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:134260673G>A	uc011kpr.1	+	8	1036	c.737G>A	c.(736-738)AGA>AAA	p.R246K	AKR1B15_uc011kps.1_Missense_Mutation_p.R218K	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	246							oxidoreductase activity			ovary(1)	1						TCTCCGGATAGACCTTGGTGA	0.478		NaN											0	0	0	0.009096	0	4	26				
CLCN1	1180	broad.mit.edu	37	7	143018480	143018480	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143018480G>A	uc003wcr.1	+	4	543	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	152	Helical; (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CCTACGCGCAGATGCAGCCCA	0.617		NaN											0	0	0	0.021553	0	6	46				
FAM115C	285966	broad.mit.edu	37	7	143421796	143421796	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143421796G>C	uc003wdf.2	+	7	2594	c.2511G>C	c.(2509-2511)CTG>CTC	p.L837L	FAM115C_uc003wdg.2_Silent_p.L556L|FAM115C_uc011ktk.1_Silent_p.L837L|FAM115C_uc003wdh.2_Silent_p.L837L|FAM115C_uc011ktm.1_Silent_p.L837L|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Intron|FAM115C_uc003wdi.1_Intron	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	Error:Variant_position_missing_in_A6NFQ2_after_alignment											0						TACAGGTACTGAGCAGAAATT	0.572		NaN											0	0	0	0.021553	0	4	35				
DPP6	1804	broad.mit.edu	37	7	154680984	154680984	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:154680984G>A	uc003wlk.2	+	24	2436	c.2307G>A	c.(2305-2307)ATG>ATA	p.M769I	DPP6_uc003wli.2_Missense_Mutation_p.M705I|DPP6_uc003wlm.2_Missense_Mutation_p.M707I|DPP6_uc011kvq.1_Missense_Mutation_p.M662I	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	769	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGTGCAGATGACCAAGGTAG	0.537		NaN											0	0	0	0.009096	0	4	24				
PBK	55872	broad.mit.edu	37	8	27667830	27667830	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:27667830C>T	uc003xgi.2	-	8	1162	c.961G>A	c.(961-963)GAT>AAT	p.D321N	ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D332N	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	321	PDZ-interaction.|Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CACTAGACATCTGTTTCCAGA	0.358		NaN											0	0	0	0.02938	0	7	106				
POP1	10940	broad.mit.edu	37	8	99148933	99148933	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:99148933C>G	uc003yij.3	+	8	1335	c.1235C>G	c.(1234-1236)TCT>TGT	p.S412C	POP1_uc011lgv.1_Missense_Mutation_p.S412C|POP1_uc003yik.2_Missense_Mutation_p.S412C	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	412					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTACCATACTCTTGGATCTCT	0.358		NaN											0	0	0	0.00308	0	8	67				
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:125113410C>T	uc003yqw.2	+	38	5162	c.4956C>T	c.(4954-4956)AAC>AAT	p.N1652N	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1652	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGGGCAACTTCAACTGGC	0.433		NaN											0	0	0	0.006214	0	9	79				
ST3GAL1	6482	broad.mit.edu	37	8	134477108	134477108	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:134477108C>T	uc003yuk.2	-	7	1425	c.596G>A	c.(595-597)GGA>GAA	p.G199E	ST3GAL1_uc003yum.2_Missense_Mutation_p.G199E	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	199	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GACATTATCTCCCAGCTCCCG	0.582		NaN											0	0	0	0.024245	0	14	145				
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:33998823C>G	uc003ztq.1	-	3	252	c.139G>C	c.(139-141)GAT>CAT	p.D47H	UBAP2_uc011loc.1_Missense_Mutation_p.D9H|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Missense_Mutation_p.D9H|UBAP2_uc011lof.1_Missense_Mutation_p.D9H|UBAP2_uc011log.1_Missense_Mutation_p.D46H|UBAP2_uc003ztr.2_Missense_Mutation_p.D9H	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	47										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328		NaN											0	0	0	0.0333	0	16	93				
VCP	7415	broad.mit.edu	37	9	35062058	35062058	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35062058C>T	uc003zvy.2	-	9	1412	c.1023G>A	c.(1021-1023)GTG>GTA	p.V341V	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V10V|VCP_uc010mki.1_Silent_p.V296V	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	341					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATAACAATCACATGTGCCC	0.527		NaN											0	0	0	0.016723	0	14	85				
TLN1	7094	broad.mit.edu	37	9	35716479	35716479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35716479C>T	uc003zxt.2	-	20	2887	c.2533G>A	c.(2533-2535)GAG>AAG	p.E845K		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	845					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTTCCCCCTCAGCATCAGCC	0.572		NaN											0	0	0	0.004482	0	9	138				
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:73235278C>T	uc004aid.2	-	15	2051	c.1807G>A	c.(1807-1809)GAT>AAT	p.D603N	TRPM3_uc004ahu.2_Missense_Mutation_p.D433N|TRPM3_uc004ahv.2_Missense_Mutation_p.D405N|TRPM3_uc004ahw.2_Missense_Mutation_p.D475N|TRPM3_uc004ahx.2_Missense_Mutation_p.D462N|TRPM3_uc004ahy.2_Missense_Mutation_p.D465N|TRPM3_uc004ahz.2_Missense_Mutation_p.D452N|TRPM3_uc004aia.2_Missense_Mutation_p.D450N|TRPM3_uc004aib.2_Missense_Mutation_p.D440N|TRPM3_uc004aic.2_Missense_Mutation_p.D603N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	628	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AAGGGAATATCATCCTGTAAT	0.318		NaN											0	0	0	0.010504	0	20	209				
FLJ46321	389763	broad.mit.edu	37	9	84606383	84606383	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:84606383C>T	uc004amn.2	+	4	1045	c.998C>T	c.(997-999)TCT>TTT	p.S333F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	333						integral to membrane					0						CTAGGTGGCTCTGGTGGGTCA	0.483		NaN											0	0	0	0.008291	0	9	161				
TTC16	158248	broad.mit.edu	37	9	130479144	130479144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:130479144G>A	uc004brq.1	+	2	107	c.40G>A	c.(40-42)GGC>AGC	p.G14S	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.G14S|TTC16_uc004brr.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	14							binding				0						GGTTGACCAGGGCCCCTCACG	0.602		NaN											0	0	0	0.00308	0	7	43				
COL5A1	1289	broad.mit.edu	37	9	137655583	137655583	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:137655583C>T	uc004cfe.2	+	20	2416	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	678	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGGGAGCCCGTAAGTCTGT	0.587		NaN											0	0	0	0.00308	0	8	78				
ZBED1	9189	broad.mit.edu	37	X	2407457	2407457	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:2407457T>C	uc004cqg.2	-	2	1505	c.1304A>G	c.(1303-1305)AAC>AGC	p.N435S	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.N435S	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	435						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTTGATGTTGAGCGTGGT	0.587		NaN											0	0	0	0.016723	0	13	88				
MAGIX	79917	broad.mit.edu	37	X	49022469	49022469	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:49022469C>G	uc010nin.1	+	6	783	c.736C>G	c.(736-738)CGC>GGC	p.R246G	MAGIX_uc010nio.1_Missense_Mutation_p.R170G|MAGIX_uc004dmt.2_Missense_Mutation_p.R165G|MAGIX_uc004dmu.2_Missense_Mutation_p.R187G|MAGIX_uc004dmw.2_Missense_Mutation_p.R174G	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	246											0						AACGGGGTCTCGCAGCAGCAG	0.637		NaN											0	0	0	0.014758	0	5	34				
H6PD	9563	broad.mit.edu	37	1	9324107	9324107	+	Missense_Mutation	SNP	C	C	T	rs35863691	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:9324107C>T	uc001apt.2	+	5	1828	c.1555C>T	c.(1555-1557)CGG>TGG	p.R519W		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	519	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGTAGCGGCCGGTTGTTCTT	0.637		NaN											0	0	0	0.00278	0	23	233				
PLA2G2A	5320	broad.mit.edu	37	1	20302318	20302318	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:20302318C>T	uc001bcu.2	-	5	529	c.311G>A	c.(310-312)AGA>AAA	p.R104K	PLA2G2A_uc001bcv.2_Missense_Mutation_p.R104K|PLA2G2A_uc010oda.1_Missense_Mutation_p.R104K|PLA2G2A_uc010odb.1_Missense_Mutation_p.R104K	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	104					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGACTTCTGCAGGAGTC	0.398		NaN											0	0	0	0.008291	0	10	39				
KIF2C	11004	broad.mit.edu	37	1	45226006	45226006	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:45226006C>T	uc001cmg.3	+	15	1537	c.1422C>T	c.(1420-1422)TTC>TTT	p.F474F	KIF2C_uc010olb.1_Silent_p.F433F|KIF2C_uc010olc.1_Silent_p.F361F|KIF2C_uc001cmh.3_Silent_p.F420F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	474	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ACGCGTGCTTCCAAATTATTC	0.527		NaN											0	0	0	0.003755	0	33	23				
ZCCHC11	23318	broad.mit.edu	37	1	52941116	52941116	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:52941116C>T	uc001ctx.2	-	13	2349	c.2115G>A	c.(2113-2115)CGG>CGA	p.R705R	ZCCHC11_uc001cty.2_Silent_p.R705R|ZCCHC11_uc001ctz.2_Silent_p.R705R|ZCCHC11_uc009vze.1_Silent_p.R705R|ZCCHC11_uc009vzf.1_Silent_p.R464R|ZCCHC11_uc001cub.2_Silent_p.R705R	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	705					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGGCAAAATACCGATAAGCTG	0.418		NaN											0	0	0	0.007413	0	19	55				
GBP4	115361	broad.mit.edu	37	1	89661003	89661003	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:89661003C>T	uc001dnb.2	-	3	456	c.340G>A	c.(340-342)GAG>AAG	p.E114K		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	114	GTP (By similarity).					cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCCAGGCCCTCGGTGTCCAGA	0.522		NaN											0	0	0	0.01441	0	55	111				
SLC44A3	126969	broad.mit.edu	37	1	95360474	95360474	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:95360474G>C	uc001dqv.3	+	15	2065	c.1958G>C	c.(1957-1959)AGA>ACA	p.R653T	SLC44A3_uc001dqx.3_Missense_Mutation_p.R652T|SLC44A3_uc010otq.1_Missense_Mutation_p.R585T|SLC44A3_uc010otr.1_Missense_Mutation_p.R617T|SLC44A3_uc001dqw.3_Missense_Mutation_p.R605T|SLC44A3_uc010ots.1_Missense_Mutation_p.R573T|SLC44A3_uc009wds.2_Missense_Mutation_p.R556T|SLC44A3_uc010ott.1_Missense_Mutation_p.R572T	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	653						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCCATTGTGAGATAGATACCC	0.393		NaN											0	0	0	0.00632	0	23	40				
OLFM3	118427	broad.mit.edu	37	1	102271652	102271652	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:102271652C>G	uc001duf.2	-	5	810	c.739G>C	c.(739-741)GCA>CCA	p.A247P	OLFM3_uc001dug.2_Missense_Mutation_p.A227P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.A152P|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	247	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTCTCAGATGCTAAAGGGTCT	0.398		NaN											0	0	0	0.007413	0	15	135				
WDR47	22911	broad.mit.edu	37	1	109538452	109538452	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:109538452G>C	uc001dwj.2	-	8	1817	c.1441C>G	c.(1441-1443)CAA>GAA	p.Q481E	WDR47_uc001dwl.2_Missense_Mutation_p.Q489E|WDR47_uc001dwi.2_Missense_Mutation_p.Q482E|WDR47_uc001dwk.2_Missense_Mutation_p.Q453E|WDR47_uc010ovf.1_Missense_Mutation_p.Q408E	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	481										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAAGCTTTTGAATGGACCTA	0.313		NaN											0	0	0	0.00278	0	24	78				
KCND3	3752	broad.mit.edu	37	1	112525046	112525046	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:112525046C>T	uc001ebu.1	-	2	783	c.303G>A	c.(301-303)GGG>GGA	p.G101G	KCND3_uc001ebv.1_Silent_p.G101G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	101	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTGCAGCTTCCCCGTGCGGT	0.607		NaN											0	0	0	0.003755	0	30	139				
ATP1A1	476	broad.mit.edu	37	1	116932065	116932065	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932065C>T	uc001ege.2	+	8	1098	c.759C>T	c.(757-759)ACC>ACT	p.T253T	ATP1A1_uc010owv.1_Silent_p.T222T|ATP1A1_uc010oww.1_Silent_p.T253T|ATP1A1_uc010owx.1_Silent_p.T222T	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	253	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTTAAGGCACCGCACGTGGTA	0.473		NaN											0	0	0	0.01441	0	46	193				
ATP1A1	476	broad.mit.edu	37	1	116932235	116932235	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932235C>G	uc001ege.2	+	8	1268	c.929C>G	c.(928-930)TCT>TGT	p.S310C	ATP1A1_uc010owv.1_Missense_Mutation_p.S279C|ATP1A1_uc010oww.1_Missense_Mutation_p.S310C|ATP1A1_uc010owx.1_Missense_Mutation_p.S279C	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	310	Extracellular (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCATCCTTTCTCTCATCCTT	0.507		NaN											0	0	0	0.007413	0	16	56				
TARS2	80222	broad.mit.edu	37	1	150459941	150459941	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150459941G>C	uc001euq.2	+	1	22	c.15G>C	c.(13-15)CAG>CAC	p.Q5H	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.Q5H|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.Q5H	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	5					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCTGTATCAGAGGTGGCGGT	0.552		NaN											0	0	0	0.004656	0	21	225				
TARS2	80222	broad.mit.edu	37	1	150460385	150460385	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150460385G>A	uc001euq.2	+	2	125	c.118G>A	c.(118-120)GAG>AAG	p.E40K	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E40K|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.E40K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	40					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCTTTTTGAGGAGCTGTG	0.507		NaN											0	0	0	0.007835	0	38	263				
TARS2	80222	broad.mit.edu	37	1	150463886	150463886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150463886G>C	uc001euq.2	+	5	536	c.529G>C	c.(529-531)GAG>CAG	p.E177Q	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E177Q|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.E177Q	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	177					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGGGCTCAGAGCTGCCTGT	0.552		NaN											0	0	0	0.004289	0	34	254				
ADAMTSL4	54507	broad.mit.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150532263G>A	uc001eux.2	+	18	3206	c.2970G>A	c.(2968-2970)ACG>ACA	p.T990T	ADAMTSL4_uc009wlw.2_Silent_p.T1013T|ADAMTSL4_uc010pcg.1_Silent_p.T951T|ADAMTSL4_uc009wlx.2_Silent_p.T153T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	990	TSP type-1 6.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637		NaN									OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	28	533				
PIP5K1A	8394	broad.mit.edu	37	1	151205150	151205150	+	Missense_Mutation	SNP	C	C	G	rs148159537	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:151205150C>G	uc001exj.2	+	7	1062	c.610C>G	c.(610-612)CTG>GTG	p.L204V	PIP5K1A_uc001exi.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L192V|PIP5K1A_uc001exk.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	204	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGAATTTCTGCAGAAGCT	0.498		NaN											0	0	0	0.003954	0	19	152				
FLG	2312	broad.mit.edu	37	1	152280743	152280743	+	Missense_Mutation	SNP	C	C	G	rs71625185		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152280743C>G	uc001ezu.1	-	3	6655	c.6619G>C	c.(6619-6621)GGG>CGG	p.G2207R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2207	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGCGACCCTGAGTGCCTA	0.572		NaN							Ichthyosis				0	0	0	0.009535	0	29	572				
FLG	2312	broad.mit.edu	37	1	152286605	152286605	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152286605C>G	uc001ezu.1	-	3	793	c.757G>C	c.(757-759)GAA>CAA	p.E253Q	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	253					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTGTTTTCTTCTAATAGA	0.378		NaN							Ichthyosis				0	0	0	0.01441	0	68	381				
FLG	2312	broad.mit.edu	37	1	152287125	152287125	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152287125G>A	uc001ezu.1	-	3	273	c.237C>T	c.(235-237)TTC>TTT	p.F79F	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	79	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAACTTGAATACCATCA	0.378		NaN							Ichthyosis				0	0	0	0.004656	0	26	174				
FCRL2	79368	broad.mit.edu	37	1	157738266	157738266	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:157738266T>A	uc001fre.2	-	5	880	c.821A>T	c.(820-822)TAC>TTC	p.Y274F	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.Y274F|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	274	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCTCTACAGTAATATTTGCC	0.498		NaN											0	0	0	0.00245	0	14	169				
XPR1	9213	broad.mit.edu	37	1	180775611	180775611	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:180775611C>T	uc001goi.2	+	6	791	c.599C>T	c.(598-600)GCT>GTT	p.A200V	XPR1_uc009wxm.2_Missense_Mutation_p.A200V|XPR1_uc009wxn.2_Missense_Mutation_p.A200V	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	200	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TCTTTCTAGGCTGTAGTGACC	0.368		NaN											0	0	0	0.005443	0	22	69				
CFHR2	3080	broad.mit.edu	37	1	196920122	196920122	+	Missense_Mutation	SNP	C	C	T	rs111586074		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:196920122C>T	uc001gtq.1	+	3	471	c.394C>T	c.(394-396)CGG>TGG	p.R132W	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	132	Sushi 2.					extracellular region				skin(2)|ovary(1)	3						ATGTGTAGAACGGGGCTGGTC	0.373		NaN											0	0	0	0.01441	0	57	39				
RPS6KC1	26750	broad.mit.edu	37	1	213414318	213414318	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:213414318C>G	uc010ptr.1	+	11	1658	c.1499C>G	c.(1498-1500)TCT>TGT	p.S500C	RPS6KC1_uc001hkd.2_Missense_Mutation_p.S488C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S319C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S35C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S319C	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	500					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGCCAGATTCTGGTTCAAGT	0.413		NaN											0	0	0	0.00278	0	19	34				
CENPF	1063	broad.mit.edu	37	1	214820493	214820493	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:214820493T>C	uc001hkm.2	+	13	7754	c.7580T>C	c.(7579-7581)CTG>CCG	p.L2527P		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2623	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCAGTAGACTGAAAAATCAA	0.388		NaN											0	0	0	0.000602	0	4	56				
EXOC8	149371	broad.mit.edu	37	1	231472540	231472540	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:231472540C>T	uc001huq.2	-	1	1039	c.952G>A	c.(952-954)GAA>AAA	p.E318K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	318	Poly-Glu.				exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTGGTTCTTCTTCTTCGTCA	0.557		NaN											0	0	0	0.01441	0	49	68				
LYST	1130	broad.mit.edu	37	1	235952011	235952011	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:235952011G>C	uc001hxj.2	-	13	4853	c.4678C>G	c.(4678-4680)CTT>GTT	p.L1560V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1560					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGAAAGATAAGAGTGGCATTG	0.358		NaN							Chediak-Higashi_syndrome				0	0	0	0.00499	0	11	46				
FMN2	56776	broad.mit.edu	37	1	240286571	240286571	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:240286571C>T	uc010pyd.1	+	2	1933	c.1708C>T	c.(1708-1710)CTT>TTT	p.L570F	FMN2_uc010pye.1_Missense_Mutation_p.L570F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	570					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCATGGGTCTTCTCCTTCC	0.502		NaN											0	0	0	0.012319	0	19	81				
OR2T4	127074	broad.mit.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:248525601T>C	uc001ieh.1	+	1	719	c.719T>C	c.(718-720)CTC>CCC	p.L240P		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	240	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483		NaN											0	0	0	0.006122	0	14	203				
GTPBP4	23560	broad.mit.edu	37	10	1042070	1042070	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:1042070G>C	uc001ift.2	+	4	419	c.348G>C	c.(346-348)CTG>CTC	p.L116L	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_Silent_p.L69L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	116					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATGTGCGACTGATGAAGTATG	0.413		NaN											0	0	0	0.004672	0	3	12				
TET1	80312	broad.mit.edu	37	10	70404903	70404903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:70404903C>T	uc001jok.3	+	4	2922	c.2417C>T	c.(2416-2418)TCT>TTT	p.S806F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	806					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GCTATGAGCTCTGTTGCTACT	0.358		NaN											0	0	0	0.003755	0	29	79				
KCNMA1	3778	broad.mit.edu	37	10	78669798	78669798	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:78669798C>G	uc001jxn.2	-	25	3250	c.3073G>C	c.(3073-3075)GAA>CAA	p.E1025Q	KCNMA1_uc001jxj.2_Missense_Mutation_p.E971Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.E643Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.E816Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.E650Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.E1008Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.E967Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.E997Q	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1025	Calcium bowl.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGGTACAGTTCTGTATCAGGG	0.473		NaN											0	0	0	0.003271	0	29	17				
DLG5	9231	broad.mit.edu	37	10	79565534	79565534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:79565534G>A	uc001jzk.2	-	27	5123	c.5053C>T	c.(5053-5055)CGC>TGC	p.R1685C	DLG5_uc001jzi.2_Missense_Mutation_p.R440C|DLG5_uc001jzj.2_Missense_Mutation_p.R1100C|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1685					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AAGGACCGGCGTGCAGCCGCT	0.552		NaN											0	0	0	0.01441	0	83	37				
OR52E8	390079	broad.mit.edu	37	11	5878060	5878060	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:5878060G>T	uc010qzr.1	-	1	873	c.873C>A	c.(871-873)GCC>GCA	p.A291A	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATTGAGGGCTGGTGGGA	0.423		NaN											1	0	2.02624e-56	0.01441	2.25348e-56	85	145				
NLRP14	338323	broad.mit.edu	37	11	7064578	7064578	+	Missense_Mutation	SNP	G	G	A	rs147389856	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:7064578G>A	uc001mfb.1	+	4	1644	c.1321G>A	c.(1321-1323)GTG>ATG	p.V441M		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	441	NACHT.		V -> M.		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATGACTTACGTGTTTTACAG	0.438		NaN											0	0	0	0.01441	0	63	91				
NAV2	89797	broad.mit.edu	37	11	19735319	19735319	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:19735319C>T	uc010rdm.1	+	1	439	c.78C>T	c.(76-78)CAC>CAT	p.H26H	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.H26H|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	26						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCATCCTGCACGTgcccccgg	0.537		NaN											0	0	0	0.003954	0	20	16				
ZFP91	80829	broad.mit.edu	37	11	58379117	58379117	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:58379117G>C	uc001nmx.3	+	6	931	c.763G>C	c.(763-765)GAA>CAA	p.E255Q	ZFP91_uc001nmy.3_Missense_Mutation_p.E254Q|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	255	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gaaggtaaaagaagagaagga	0.209		NaN											0	0	0	0.003163	0	15	18				
STX3	6809	broad.mit.edu	37	11	59540702	59540702	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540702G>A	uc001nog.2	+	2	239	c.49G>A	c.(49-51)GAT>AAT	p.D17N	STX3_uc010rkx.1_Missense_Mutation_p.D17N|STX3_uc010rky.1_5'UTR	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	17	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						GACACAGGATGATGATACTGA	0.348		NaN											0	0	0	0.01441	0	72	168				
STX3	6809	broad.mit.edu	37	11	59540705	59540705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540705G>A	uc001nog.2	+	2	242	c.52G>A	c.(52-54)GAT>AAT	p.D18N	STX3_uc010rkx.1_Missense_Mutation_p.D18N|STX3_uc010rky.1_5'UTR	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	18	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						ACAGGATGATGATACTGATGC	0.348		NaN											0	0	0	0.01441	0	73	171				
RCE1	9986	broad.mit.edu	37	11	66611253	66611253	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:66611253G>A	uc001ojk.1	+	2	253	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	RCE1_uc001ojl.1_5'UTR	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	70					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						GTCATCAAGCGACGCTTCACC	0.672		NaN											0	0	0	0.008871	0	18	40				
GRM5	2915	broad.mit.edu	37	11	88323888	88323888	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:88323888C>T	uc001pcq.2	-	6	1771	c.1571G>A	c.(1570-1572)CGA>CAA	p.R524Q	GRM5_uc009yvm.2_Missense_Mutation_p.R524Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	524	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCTCCCTTTCGGATCACCTA	0.378		NaN											0	0	0	0.003271	0	28	69				
EXPH5	23086	broad.mit.edu	37	11	108381102	108381102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:108381102G>A	uc001pkk.2	-	6	5243	c.5132C>T	c.(5131-5133)TCA>TTA	p.S1711L	EXPH5_uc010rvy.1_Missense_Mutation_p.S1523L|EXPH5_uc010rvz.1_Missense_Mutation_p.S1555L|EXPH5_uc010rwa.1_Missense_Mutation_p.S1635L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1711					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCATGCTTTGATGGTGATTC	0.443		NaN											0	0	0	0.004878	0	38	94				
CACNA1C	775	broad.mit.edu	37	12	2760832	2760832	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:2760832C>T	uc009zdu.1	+	34	4429	c.4116C>T	c.(4114-4116)TCC>TCT	p.S1372S	CACNA1C_uc009zdv.1_Silent_p.S1321S|CACNA1C_uc001qkb.2_Silent_p.S1324S|CACNA1C_uc001qkc.2_Silent_p.S1324S|CACNA1C_uc001qke.2_Silent_p.S1313S|CACNA1C_uc001qkf.2_Silent_p.S1313S|CACNA1C_uc001qjz.2_Silent_p.S1324S|CACNA1C_uc001qkd.2_Silent_p.S1324S|CACNA1C_uc001qkg.2_Silent_p.S1311S|CACNA1C_uc009zdw.1_Silent_p.S1346S|CACNA1C_uc001qkh.2_Silent_p.S1313S|CACNA1C_uc001qkl.2_Silent_p.S1372S|CACNA1C_uc001qkn.2_Silent_p.S1324S|CACNA1C_uc001qko.2_Silent_p.S1344S|CACNA1C_uc001qkp.2_Silent_p.S1324S|CACNA1C_uc001qkr.2_Silent_p.S1341S|CACNA1C_uc001qku.2_Silent_p.S1324S|CACNA1C_uc001qkq.2_Silent_p.S1352S|CACNA1C_uc001qks.2_Silent_p.S1324S|CACNA1C_uc001qkt.2_Silent_p.S1324S|CACNA1C_uc001qki.1_Silent_p.S1060S|CACNA1C_uc001qkj.1_Silent_p.S1060S|CACNA1C_uc001qkk.1_Silent_p.S1060S|CACNA1C_uc001qkm.1_Silent_p.S1049S|CACNA1C_uc010sea.1_Silent_p.S15S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1372	Extracellular (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCGCATCTCCATCACCTTCT	0.612		NaN											0	0	0	0.013726	0	28	136				
ACSM4	341392	broad.mit.edu	37	12	7459281	7459281	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:7459281C>T	uc001qsx.1	+	2	354	c.354C>T	c.(352-354)GCC>GCT	p.A118A		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	118					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						ACCGTTTGGCCGTGATTCTGC	0.512		NaN											0	0	0	0.012213	0	25	11				
CLEC4E	26253	broad.mit.edu	37	12	8691854	8691854	+	Missense_Mutation	SNP	G	G	A	rs137962363		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:8691854G>A	uc001quo.1	-	3	344	c.179C>T	c.(178-180)CCT>CTT	p.P60L		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	60	Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					GAAATTCTCAGGTAGCTGAAA	0.358		NaN											0	0	0	0.008291	0	10	230				
PLCZ1	89869	broad.mit.edu	37	12	18854476	18854476	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:18854476C>T	uc010sid.1	-	9	1167	c.976G>A	c.(976-978)GTA>ATA	p.V326I	PLCZ1_uc001rdv.3_Missense_Mutation_p.V222I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V67I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V108I|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	326					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AACTTTTTTACCCCTGTTTCC	0.264		NaN											0	0	0	0.01441	0	46	32				
PRKAG1	5571	broad.mit.edu	37	12	49406886	49406886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49406886G>C	uc001rsy.2	-	2	86	c.17C>G	c.(16-18)TCT>TGT	p.S6C	uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Missense_Mutation_p.S6C|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Missense_Mutation_p.S6C	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	6					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1						GCTATCTGAAGAAATGACCTG	0.423		NaN											0	0	0	0.009718	0	38	23				
MLL2	8085	broad.mit.edu	37	12	49443634	49443634	+	Missense_Mutation	SNP	G	G	A	rs112921115		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49443634G>A	uc001rta.3	-	11	3737	c.3737C>T	c.(3736-3738)ACG>ATG	p.T1246M		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1246					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACTAACATCCGTAGAGACCCC	0.602		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.01441	0	97	80		Valid		
MLL2	8085	broad.mit.edu	37	12	49446856	49446856	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49446856C>T	uc001rta.3	-	8	955	c.955_splice	c.e8-1	p.A319_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCGGCACGCCTAAGGGAAGG	0.532		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.01441	0	47	111		Valid		
KRT18	3875	broad.mit.edu	37	12	53343177	53343177	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:53343177A>T	uc001sbe.2	+	2	289	c.220A>T	c.(220-222)ATG>TTG	p.M74L	KRT18_uc009zmn.1_Missense_Mutation_p.M74L|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.M74L|KRT18_uc009zmo.2_Missense_Mutation_p.M74L|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	74	Head.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						TCTGGCAGGAATGGGAGGCAT	0.662		NaN											0	0	0	0.012213	0	30	55				
OR6C74	254783	broad.mit.edu	37	12	55641322	55641322	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:55641322C>A	uc010spg.1	+	1	251	c.251C>A	c.(250-252)GCA>GAA	p.A84E		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GTTAGTATGGCAACAGGTGAT	0.398		NaN											1	0	1.61879e-10	0.013537	1.6751e-10	10	266				
NUDT4	11163	broad.mit.edu	37	12	93793095	93793095	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:93793095T>G	uc001tcm.2	+	5	881	c.483T>G	c.(481-483)GAT>GAG	p.D161E	NUDT4_uc010sup.1_Missense_Mutation_p.D161E|NUDT4_uc001tcn.2_Missense_Mutation_p.D109E|NUDT4_uc010suq.1_Missense_Mutation_p.D110E|NUDT4_uc001tco.2_Missense_Mutation_p.D109E	NM_019094	NP_061967	Q9NZJ9	NUDT4_HUMAN	nudix-type motif 4 isoform alpha	161					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0						CCCTTCCGGATAATAATGCCT	0.478		NaN											0	0	0	0.008291	0	8	283				
GOLGA2B	55592	broad.mit.edu	37	12	100551433	100551433	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:100551433C>A	uc001tgs.2	-	4	607	c.163G>T	c.(163-165)GCC>TCC	p.A55S	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.A55S|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						ATGAGCCAGGCGCTGGCAGTG	0.622		NaN											1	0	3.73148e-12	0.007291	3.87813e-12	22	47				
EID3	493861	broad.mit.edu	37	12	104697751	104697751	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:104697751C>T	uc001tkw.2	+	1	203	c.39C>T	c.(37-39)TCC>TCT	p.S13S	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						CGGGCTGCTCCGACGACCTCA	0.662		NaN											0	0	0	0.000602	0	5	22				
POLR3B	55703	broad.mit.edu	37	12	106890641	106890641	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:106890641G>A	uc001tlp.2	+	25	3151	c.2929G>A	c.(2929-2931)GTT>ATT	p.V977I	POLR3B_uc001tlq.2_Missense_Mutation_p.V919I	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	977					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TGAGGACCTCGTTCGCCATGG	0.488		NaN											0	0	0	0.01441	0	42	102				
GLTP	51228	broad.mit.edu	37	12	110318126	110318126	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110318126G>C	uc001tpm.2	-	1	168	c.54C>G	c.(52-54)ATC>ATG	p.I18M	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	18						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCCCGGTCTCGATCTGCTTGT	0.627		NaN											0	0	0	0.00499	0	12	24				
GIT2	9815	broad.mit.edu	37	12	110397701	110397701	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110397701G>C	uc001tps.2	-	12	1215	c.1050C>G	c.(1048-1050)CTC>CTG	p.L350L	GIT2_uc001tpq.2_Silent_p.L350L|GIT2_uc001tpv.2_Silent_p.L352L|GIT2_uc001tpu.2_Silent_p.L350L|GIT2_uc001tpt.2_Silent_p.L350L|GIT2_uc010sxu.1_Silent_p.L288L|GIT2_uc001tpw.2_Silent_p.L350L|GIT2_uc010sxv.1_Silent_p.L350L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	350					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TGGCGTCACTGAGAATGTCAA	0.463		NaN											0	0	0	0.005443	0	22	59				
C12orf51	283450	broad.mit.edu	37	12	112696955	112696955	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:112696955C>G	uc009zwc.2	-	12	1710	c.1692G>C	c.(1690-1692)CTG>CTC	p.L564L	C12orf51_uc010syk.1_Silent_p.L387L|C12orf51_uc001tts.2_Silent_p.L387L|C12orf51_uc001ttt.3_Silent_p.L385L	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GCTGAGGCATCAGGGCATCCG	0.483		NaN											0	0	0	0.01441	0	41	694				
SFRS9	8683	broad.mit.edu	37	12	120901878	120901878	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:120901878C>T	uc001tyi.2	-	3	543	c.397G>A	c.(397-399)GAA>AAA	p.E133K		NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	133	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCCAGCTTCTCGCATGTGA	0.507		NaN											0	0	0	0.01441	0	45	149				
VPS33A	65082	broad.mit.edu	37	12	122723263	122723263	+	Silent	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:122723263A>G	uc001ucd.2	-	10	1286	c.1173T>C	c.(1171-1173)AAT>AAC	p.N391N	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	391					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCTCAATGTAATTGTTGACCT	0.259		NaN											0	0	0	0.01441	0	53	114				
RIMBP2	23504	broad.mit.edu	37	12	130926783	130926783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:130926783C>T	uc001uil.2	-	8	1227	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	RIMBP2_uc001uim.2_Missense_Mutation_p.E263K|RIMBP2_uc001uin.1_Missense_Mutation_p.E14K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	355	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGAGCTTCTCGATGAGGGCT	0.612		NaN											0	0	0	0.006122	0	14	72				
OR4K2	390431	broad.mit.edu	37	14	20345191	20345191	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:20345191C>T	uc001vwh.1	+	1	765	c.765C>T	c.(763-765)ATC>ATT	p.I255I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCATGCATCTTCATCTACA	0.408		NaN											0	0	0	0.00278	0	21	92				
PROX2	283571	broad.mit.edu	37	14	75330507	75330507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:75330507G>A	uc001xqr.1	-	1	31	c.31C>T	c.(31-33)CAG>TAG	p.Q11*	PROX2_uc001xqq.1_5'UTR	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		ATCTGGGGCTGAGGAGAAAGC	0.542		NaN											0	0	0	0.007291	0	22	69				
C14orf179	112752	broad.mit.edu	37	14	76548711	76548711	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:76548711G>A	uc010asm.1	+	6	402	c.368_splice	c.e6+1	p.S123_splice	C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Silent_p.R123R|C14orf179_uc001xsg.2_Splice_Site_p.S128_splice|C14orf179_uc010tve.1_Splice_Site	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN	hypothetical protein LOC112752 isoform 2						cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)		CCCCTCCCAGGTAGGTTAAAT	0.453		NaN											0	0	0	0.01441	0	84	217				
DICER1	23405	broad.mit.edu	37	14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:95590756G>A	uc001ydw.2	-	9	1335	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C	DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	385	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.00874	0	39	56				
AQR	9716	broad.mit.edu	37	15	35202345	35202345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:35202345C>T	uc001ziv.2	-	17	1835	c.1654G>A	c.(1654-1656)GAA>AAA	p.E552K		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	552						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCTTCCCATTCATCTTTGATG	0.368		NaN											0	0	0	0.01441	0	45	104				
KIAA0101	9768	broad.mit.edu	37	15	64669028	64669028	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:64669028G>C	uc002ank.2	-	3	336	c.204C>G	c.(202-204)TTC>TTG	p.F68L	KIAA0101_uc002anl.2_Intron	NM_014736	NP_055551	Q15004	PAF_HUMAN	hypothetical protein LOC9768 isoform 1	68				F->A: Loss of binding to PCNA.		mitochondrion|nucleus				central_nervous_system(1)	1						ACAACCTAAAGAATTCTCCAA	0.403		NaN											0	0	0	0.013726	0	32	21				
STARD5	80765	broad.mit.edu	37	15	81605711	81605711	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:81605711G>T	uc002bgm.2	-	6	612	c.528C>A	c.(526-528)TTC>TTA	p.F176L	STARD5_uc002bgn.2_Missense_Mutation_p.F69L	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	176	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1						GGTCGGTATGGAAGAATGTGA	0.567		NaN											1	0	1.67211e-32	0.01441	1.84242e-32	42	96				
AEN	64782	broad.mit.edu	37	15	89169733	89169733	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:89169733C>T	uc002bmt.2	+	2	444	c.293C>T	c.(292-294)GCT>GTT	p.A98V	AEN_uc010bnl.2_Missense_Mutation_p.A98V|AEN_uc010bnm.1_Missense_Mutation_p.A98V	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	98					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						AGAAGGCCTGCTCCCGGGAAA	0.662		NaN											0	0	0	0.006122	0	16	47				
NOXO1	124056	broad.mit.edu	37	16	2029284	2029284	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029284C>G	uc002cnx.2	-	8	904	c.900G>C	c.(898-900)CTG>CTC	p.L300L	NOXO1_uc002cnz.2_Silent_p.L294L|NOXO1_uc002coa.2_Silent_p.L299L|NOXO1_uc002cny.2_Silent_p.L295L	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1 isoform c	300					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity				0						CCGTCCCGCTCAGGAGAGCGC	0.776		NaN											0	0	0	0.000602	0	3	2				
NOXO1	124056	broad.mit.edu	37	16	2029448	2029448	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029448C>G	uc002cnx.2	-	7	815	c.811G>C	c.(811-813)GAC>CAC	p.D271H	NOXO1_uc002cnz.2_Missense_Mutation_p.D265H|NOXO1_uc002coa.2_Missense_Mutation_p.D270H|NOXO1_uc002cny.2_Missense_Mutation_p.D266H	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1 isoform c	271	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity				0						CAGCCGCGGTCTGACGTTTCC	0.721		NaN											0	0	0	0.004672	0	3	14				
ZNF19	7567	broad.mit.edu	37	16	71509173	71509173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:71509173G>T	uc010cgc.1	-	6	1783	c.1277C>A	c.(1276-1278)TCC>TAC	p.S426Y	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.S414Y|ZNF19_uc002fal.1_Missense_Mutation_p.S414Y|ZNF19_uc002fam.1_Missense_Mutation_p.S426Y	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	426	C2H2-type 10; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACCTAGCTGGGAAGAAGTCCC	0.328		NaN											1	0	0.00448238	0.004482	0.00457857	9	31				
DHX38	9785	broad.mit.edu	37	16	72138398	72138398	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:72138398G>A	uc002fcb.2	+	15	2379	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	675	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				GTGGCTCGGCGCTCAGACCTG	0.612		NaN											0	0	0	0.008291	0	8	28				
PLCG2	5336	broad.mit.edu	37	16	81914556	81914556	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:81914556G>A	uc002fgt.2	+	8	842	c.690G>A	c.(688-690)CTG>CTA	p.L230L	PLCG2_uc010chg.1_Silent_p.L230L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	230					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TGTTCATCCTGGGGTGAGGCA	0.537		NaN											0	0	0	0.01441	0	68	102				
SMTNL2	342527	broad.mit.edu	37	17	4497118	4497118	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:4497118G>C	uc002fyf.1	+	4	799	c.732G>C	c.(730-732)GAG>GAC	p.E244D	SMTNL2_uc002fye.2_Missense_Mutation_p.E100D	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	244											0				READ - Rectum adenocarcinoma(115;0.0325)		CTTCCACAGAGAAGAATTCCT	0.577		NaN											0	0	0	0.013537	0	10	71				
SLC47A1	55244	broad.mit.edu	37	17	19451306	19451306	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:19451306G>C	uc002gvy.1	+	4	401	c.315G>C	c.(313-315)GGG>GGC	p.G105G	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.G105G|SLC47A1_uc010vyz.1_Silent_p.G82G|SLC47A1_uc010cqp.1_Silent_p.G105G|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	105	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGACGTACGGGAGCCAGAACC	0.592		NaN											0	0	0	0.00278	0	23	37				
LGALS9	3965	broad.mit.edu	37	17	25967775	25967775	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:25967775C>T	uc002gzp.2	+	3	427	c.309C>T	c.(307-309)TTC>TTT	p.F103F	LGALS9_uc002gzq.2_Silent_p.F103F|LGALS9_uc002gzr.2_Silent_p.F46F|LGALS9_uc010waa.1_Silent_p.F46F|LGALS9_uc002gzs.2_Silent_p.F103F	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	103	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACCTCTGCTTCCTGGTGCAGA	0.572		NaN											0	0	0	0.009535	0	30	57				
PHF12	57649	broad.mit.edu	37	17	27237353	27237353	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27237353G>A	uc002hdg.1	-	11	2780	c.2250C>T	c.(2248-2250)ATC>ATT	p.I750I	PHF12_uc010wbb.1_Silent_p.I732I|PHF12_uc002hdi.1_Silent_p.I746I|PHF12_uc002hdh.1_Silent_p.I533I	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	750					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAGAAACTTGATCAGCTTCT	0.493		NaN											0	0	0	0.01441	0	103	5				
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27254016C>T	uc002hdg.1	-	3	844	c.314G>A	c.(313-315)CGC>CAC	p.R105H	PHF12_uc010wbb.1_Missense_Mutation_p.R87H|PHF12_uc002hdi.1_Missense_Mutation_p.R101H|PHF12_uc002hdj.1_Missense_Mutation_p.R105H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101H|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	105	PHD-type 1.|Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493		NaN											0	0	0	0.005443	0	23	125				
CPD	1362	broad.mit.edu	37	17	28776730	28776730	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:28776730C>T	uc002hfb.1	+	13	3048	c.3033C>T	c.(3031-3033)CTC>CTT	p.L1011L	CPD_uc010wbo.1_Silent_p.L764L|CPD_uc010wbp.1_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1011	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CAGAATTTCTCTGCCTGAACT	0.428		NaN											0	0	0	0.01441	0	124	93				
ACACA	31	broad.mit.edu	37	17	35506883	35506883	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:35506883T>C	uc002hnm.2	-	45	5664	c.5473A>G	c.(5473-5475)ATT>GTT	p.I1825V	ACACA_uc002hnk.2_Missense_Mutation_p.I1747V|ACACA_uc002hnl.2_Missense_Mutation_p.I1767V|ACACA_uc002hnn.2_Missense_Mutation_p.I1825V|ACACA_uc002hno.2_Missense_Mutation_p.I1862V|ACACA_uc010cuy.2_Missense_Mutation_p.I470V|ACACA_uc010wdc.1_5'UTR	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1825	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAATCCCAATGGCCCGGCAC	0.428		NaN											0	0	0	0.003954	0	26	62				
KRT35	3886	broad.mit.edu	37	17	39635732	39635732	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:39635732C>G	uc002hws.2	-	3	621	c.578G>C	c.(577-579)CGG>CCG	p.R193P		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	193	Rod.|Coil 1B.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CACCAGCTGCCGCAGGGACAC	0.587		NaN											0	0	0	0.01441	0	79	76				
KIAA1267	284058	broad.mit.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:44144914C>A	uc002ikb.2	-	4	1737	c.1652_splice	c.e4+1	p.T551_splice	KIAA1267_uc002ikc.2_Splice_Site_p.T551_splice|KIAA1267_uc002ikd.2_Splice_Site_p.T551_splice|KIAA1267_uc010dav.2_Splice_Site_p.T551_splice	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058							MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CTAAAACTTACGTGTTAATAA	0.413		NaN											1	0	6.17242e-35	0.01441	6.83272e-35	43	48				
RSAD1	55316	broad.mit.edu	37	17	48561095	48561095	+	Missense_Mutation	SNP	C	C	T	rs148371199		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:48561095C>T	uc002iqw.1	+	7	1137	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	RSAD1_uc010wmq.1_Intron	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	361					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCTGGGGCTACGCACCGATGT	0.537		NaN											0	0	0	0.003163	0	12	53				
MKS1	54903	broad.mit.edu	37	17	56283666	56283666	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:56283666C>G	uc002ivr.1	-	17	1641	c.1566G>C	c.(1564-1566)CAG>CAC	p.Q522H	MKS1_uc010wnq.1_Missense_Mutation_p.Q319H|MKS1_uc002ivs.1_Missense_Mutation_p.R450T	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	522					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						GAATGGAACTCTGCTGGCTGA	0.562		NaN											0	0	0	0.01441	0	52	170				
TBX2	6909	broad.mit.edu	37	17	59480480	59480480	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:59480480A>G	uc010wox.1	+	3	1003	c.722A>G	c.(721-723)GAC>GGC	p.D241G	TBX2_uc002ize.2_Missense_Mutation_p.D231G|TBX2_uc002izg.2_Missense_Mutation_p.D87G	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	241	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CGAGCCAACGACATCCTGAAG	0.632		NaN											0	0	0	0.003755	0	32	80				
STRADA	92335	broad.mit.edu	37	17	61787907	61787907	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:61787907G>A	uc002jbm.2	-	8	684	c.525C>T	c.(523-525)ATC>ATT	p.I175I	STRADA_uc002jbn.2_Silent_p.I117I|STRADA_uc002jbo.2_Silent_p.I138I|STRADA_uc002jbp.2_Silent_p.I138I|STRADA_uc002jbq.2_Silent_p.I117I|STRADA_uc010wpq.1_Silent_p.I131I|STRADA_uc010wpr.1_Silent_p.I146I|STRADA_uc010ddw.2_Silent_p.I146I|STRADA_uc002jbr.2_Silent_p.I117I	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	175	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						CCCCCTGCAGGATGTAAGCAA	0.502		NaN											0	0	0	0.006122	0	15	43				
BPTF	2186	broad.mit.edu	37	17	65942274	65942274	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:65942274C>T	uc002jgf.2	+	21	7511	c.7450C>T	c.(7450-7452)CAC>TAC	p.H2484Y	BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2610					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGCAGACTCACCAGATTCA	0.493		NaN											0	0	0	0.014323	0	19	64				
SRP68	6730	broad.mit.edu	37	17	74037019	74037019	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:74037019G>A	uc002jqk.1	-	14	1600	c.1565C>T	c.(1564-1566)TCA>TTA	p.S522L	SRP68_uc010wsu.1_Missense_Mutation_p.S421L|SRP68_uc002jql.1_Missense_Mutation_p.S484L|SRP68_uc002jqj.1_Missense_Mutation_p.S183L	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	522					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						GCACTTCTCTGACCGCACTTG	0.582		NaN											0	0	0	0.01441	0	68	80				
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:13826367G>A	uc010xaf.1	+	1	603	c.603G>A	c.(601-603)CTG>CTA	p.L201L		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	201	Helical; Name=5; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						TGTTCCTCCTGGTGTCTCTGT	0.587		NaN											0	0	0	0.01441	0	174	519				
OSBPL1A	114876	broad.mit.edu	37	18	21948276	21948276	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:21948276C>A	uc002kve.2	-	3	356	c.182G>T	c.(181-183)AGA>ATA	p.R61I		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	61	ANK 1.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GACCACTTGTCTGTGTCCAAA	0.318		NaN											1	0	2.14674e-31	0.01441	2.34369e-31	38	77				
FECH	2235	broad.mit.edu	37	18	55221549	55221549	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:55221549G>T	uc002lgq.3	-	9	1137	c.1020C>A	c.(1018-1020)GAC>GAA	p.D340E	FECH_uc002lgp.3_Missense_Mutation_p.D346E|FECH_uc002lgr.3_Missense_Mutation_p.D198E	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	340					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TTTCAATATGGTCACTGGTAA	0.453		NaN											1	0	2.61193e-14	0.009535	2.7385e-14	31	180				
MED16	10025	broad.mit.edu	37	19	886012	886012	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:886012C>T	uc002lqd.1	-	5	788	c.637G>A	c.(637-639)GTG>ATG	p.V213M	MED16_uc010drw.1_Missense_Mutation_p.V38M|MED16_uc002lqe.2_Missense_Mutation_p.V202M|MED16_uc002lqf.2_Missense_Mutation_p.V202M|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.V202M|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	213	WD 2.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGGCCACGCGGCCGCGC	0.716		NaN											0	0	0	0.004672	0	3	18				
DOT1L	84444	broad.mit.edu	37	19	2191089	2191089	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:2191089T>A	uc002lvb.3	+	5	379	c.343T>A	c.(343-345)TAC>AAC	p.Y115N		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	115						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGGTCTACAACCACTC	0.642		NaN											0	0	0	0.013537	0	13	10		Valid		
SAFB2	9667	broad.mit.edu	37	19	5600272	5600272	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:5600272C>G	uc002mcd.2	-	12	1772	c.1560_splice	c.e12-1	p.K520_splice		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AATTACAGTTCTATTTAAAGA	0.413		NaN											0	0	0	0.000602	0	4	19				
CCDC151	115948	broad.mit.edu	37	19	11537068	11537068	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:11537068C>G	uc002mrs.2	-	7	1002	c.859G>C	c.(859-861)GAG>CAG	p.E287Q	CCDC151_uc002mrr.2_Missense_Mutation_p.E222Q|CCDC151_uc010dxz.2_Missense_Mutation_p.E227Q	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	287	Potential.									ovary(1)	1						AAGGTCTCCTCTAGGTACTGC	0.622		NaN											0	0	0	0.006214	0	8	33				
C19orf56	51398	broad.mit.edu	37	19	12779345	12779345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779345C>T	uc002mud.2	-	3	491	c.243G>A	c.(241-243)ATG>ATA	p.M81I	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	81	Helical; (Potential).					integral to membrane					0						TGAAGCTACTCATCATTTGCT	0.537		NaN											0	0	0	0.00278	0	19	33				
C19orf56	51398	broad.mit.edu	37	19	12779348	12779348	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779348C>T	uc002mud.2	-	3	488	c.240G>A	c.(238-240)ATG>ATA	p.M80I	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	80	Helical; (Potential).					integral to membrane					0						AGCTACTCATCATTTGCTTCG	0.542		NaN											0	0	0	0.00333	0	19	34				
C19orf56	51398	broad.mit.edu	37	19	12779429	12779429	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779429C>T	uc002mud.2	-	3	407	c.159G>A	c.(157-159)CTG>CTA	p.L53L	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	53	Helical; (Potential).					integral to membrane					0						CACACCACTTCAGCTAGGGAA	0.522		NaN											0	0	0	0.007413	0	15	37				
IL27RA	9466	broad.mit.edu	37	19	14150702	14150702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:14150702C>T	uc002mxx.2	+	4	937	c.514C>T	c.(514-516)CAG>TAG	p.Q172*		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	172	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						CCGAAGATGTCAGGAGGCGGC	0.587		NaN											0	0	0	0.013114	0	34	230				
SLC25A42	284439	broad.mit.edu	37	19	19216402	19216402	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19216402C>T	uc002nlf.1	+	5	397	c.246C>T	c.(244-246)CTC>CTT	p.L82L	SLC25A42_uc010xqn.1_Silent_p.L134L	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	82	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACACCTACCTCAACGAGGGAT	0.627		NaN											0	0	0	0.012319	0	18	37				
SLC25A42	284439	broad.mit.edu	37	19	19217162	19217162	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19217162C>T	uc002nlf.1	+	6	616	c.465C>T	c.(463-465)GTC>GTT	p.V155V	SLC25A42_uc010xqn.1_Silent_p.V207V	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	155	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGGACCTGGTCAGAGCGCGGA	0.662		NaN											0	0	0	0.003954	0	25	62				
PLAUR	5329	broad.mit.edu	37	19	44169569	44169569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44169569G>T	uc002oxf.1	-	3	439	c.209C>A	c.(208-210)TCA>TAA	p.S70*	PLAUR_uc002oxd.1_Nonsense_Mutation_p.S70*|PLAUR_uc002oxe.1_Nonsense_Mutation_p.S65*|PLAUR_uc002oxg.1_Nonsense_Mutation_p.S70*	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	70	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTCTTCTCTGAGTGGGTACA	0.542		NaN											1	0	1.8453e-21	0.010771	1.96942e-21	33	61				
ZNF226	7769	broad.mit.edu	37	19	44681738	44681738	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44681738A>G	uc002oyp.2	+	6	2467	c.2323A>G	c.(2323-2325)AGA>GGA	p.R775G	ZNF226_uc002oyq.2_Missense_Mutation_p.R658G|ZNF226_uc002oyr.2_Missense_Mutation_p.R658G|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.R775G|ZNF226_uc002oyt.2_Missense_Mutation_p.R775G	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	775	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGTTCATCACAGAATCCATGT	0.368		NaN											0	0	0	0.000602	0	5	56				
SPHK2	56848	broad.mit.edu	37	19	49132307	49132307	+	Silent	SNP	A	A	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49132307A>C	uc002pjr.2	+	7	1608	c.1242A>C	c.(1240-1242)TCA>TCC	p.S414S	SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tggcccactcacccctgcatc	0.338		NaN											0	0	0	0.001984	0	5	20				
HSD17B14	51171	broad.mit.edu	37	19	49334931	49334931	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49334931C>T	uc002pkv.1	-	5	629	c.363G>A	c.(361-363)TTG>TTA	p.L121L	HSD17B14_uc010emk.1_Silent_p.L121L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	121					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TCACCTTGGTCAAGGTGTACG	0.587		NaN											0	0	0	0.006999	0	36	95				
ZNF615	284370	broad.mit.edu	37	19	52496893	52496893	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:52496893G>C	uc002pye.1	-	6	1728	c.1436C>G	c.(1435-1437)ACT>AGT	p.T479S	ZNF615_uc002pyf.1_Missense_Mutation_p.T490S|ZNF615_uc002pyg.1_Missense_Mutation_p.T371S|ZNF615_uc002pyh.1_Missense_Mutation_p.T490S|ZNF615_uc010epi.1_Missense_Mutation_p.T486S|ZNF615_uc010ydg.1_Missense_Mutation_p.T484S	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTCTCTGCAGTATGAGTTCG	0.438		NaN											0	0	0	0.004672	0	3	20				
NLRP4	147945	broad.mit.edu	37	19	56369402	56369402	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:56369402C>T	uc002qmd.3	+	3	1065	c.643C>T	c.(643-645)CCT>TCT	p.P215S	NLRP4_uc002qmf.2_Missense_Mutation_p.P140S|NLRP4_uc010etf.2_Missense_Mutation_p.P46S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	215	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCCGCTGCTCCTATAACAGA	0.537		NaN											0	0	0	0.005524	0	34	80				
ZNF776	284309	broad.mit.edu	37	19	58265972	58265972	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:58265972G>C	uc002qpx.2	+	3	1697	c.1474G>C	c.(1474-1476)GAA>CAA	p.E492Q	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.E492Q	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	492	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGAGTGTGGAGAATGTGGAAA	0.428		NaN											0	0	0	0.010818	0	29	68				
APOB	338	broad.mit.edu	37	2	21258577	21258577	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:21258577G>A	uc002red.2	-	7	825	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	233	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACAAGGGGCGGGTCTATGAA	0.498		NaN											0	0	0	0.00632	0	23	29				
DHX57	90957	broad.mit.edu	37	2	39085813	39085813	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:39085813C>G	uc002rrf.2	-	6	1676	c.1577G>C	c.(1576-1578)CGA>CCA	p.R526P	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.R526P	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	526							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CTGTTTCATTCGGAACTGCTT	0.408		NaN											0	0	0	0.01441	0	63	295				
FOXN2	3344	broad.mit.edu	37	2	48602364	48602364	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48602364G>A	uc002rwh.1	+	7	1393	c.1078G>A	c.(1078-1080)GAT>AAT	p.D360N		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	360					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTATGAAGATGATCCTCTTGG	0.413		NaN											0	0	0	0.014323	0	21	74				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874053	48874053	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48874053C>G	uc010yol.1	+	5	2868	c.2821C>G	c.(2821-2823)CAT>GAT	p.H941D	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.H988D|GTF2A1L_uc002rws.1_Missense_Mutation_p.H284D|GTF2A1L_uc010yom.1_Missense_Mutation_p.H250D|GTF2A1L_uc002rwt.2_Missense_Mutation_p.H284D	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	941					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CACAAGCCCTCATGGGGCTCT	0.438		NaN											0	0	0	0.00499	0	14	55				
LHCGR	3973	broad.mit.edu	37	2	48925887	48925887	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48925887T>C	uc002rwu.3	-	9	803	c.733A>G	c.(733-735)ATT>GTT	p.I245V	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	245	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCCTCTGAATGGACTCTAGG	0.413		NaN							Familial_Male-Limited_Precocious_Puberty				0	0	0	0.003271	0	29	45				
ELMOD3	84173	broad.mit.edu	37	2	85604471	85604471	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:85604471G>A	uc002spf.3	+	12	1277	c.612G>A	c.(610-612)GCG>GCA	p.A204A	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.A204A|ELMOD3_uc002sph.3_Silent_p.A204A|ELMOD3_uc010ysn.1_Silent_p.A204A|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	204	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						TTACAGGAGCGAATCCAGCCA	0.587		NaN											0	0	0	0.00245	0	12	61				
UGGT1	56886	broad.mit.edu	37	2	128945037	128945037	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128945037G>A	uc002tps.2	+	40	4669	c.4491G>A	c.(4489-4491)ATG>ATA	p.M1497I	UGGT1_uc002tpr.2_Missense_Mutation_p.M1473I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1497	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						ATAATCCGATGACCAAAGAGC	0.463		NaN											0	0	0	0.010729	0	10	80				
MCM6	4175	broad.mit.edu	37	2	136603937	136603937	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:136603937C>T	uc002tuw.2	-	15	2155	c.2079G>A	c.(2077-2079)GTG>GTA	p.V693V		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	693					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TGATCCCGTTCACAGGAGCAG	0.443		NaN											0	0	0	0.01441	0	154	146				
SCN9A	6335	broad.mit.edu	37	2	167056103	167056103	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:167056103C>T	uc010fpl.2	-	27	5354	c.5013G>A	c.(5011-5013)GAG>GAA	p.E1671E	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1682	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCCAAAGGTCTCAAAATTGA	0.428		NaN											0	0	0	0.01441	0	61	114				
FRZB	2487	broad.mit.edu	37	2	183730874	183730874	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:183730874C>T	uc002upa.1	-	1	625	c.407G>A	c.(406-408)TGC>TAC	p.C136Y		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	136	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CAGCTCCTCGCAGGCCAGGTT	0.637		NaN											0	0	0	0.006214	0	9	23				
ANKAR	150709	broad.mit.edu	37	2	190554293	190554293	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:190554293C>G	uc002uqw.1	+	2	429	c.429C>G	c.(427-429)ATC>ATG	p.I143M	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.I214M	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	214						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTAATGAAATCTATGATGAAG	0.303		NaN											0	0	0	0.003271	0	28	85				
SATB2	23314	broad.mit.edu	37	2	200173580	200173580	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:200173580G>A	uc002uuy.1	-	10	2460	c.1643C>T	c.(1642-1644)CCC>CTC	p.P548L	SATB2_uc010fsq.1_Missense_Mutation_p.P430L|SATB2_uc002uuz.1_Missense_Mutation_p.P548L|SATB2_uc002uva.1_Missense_Mutation_p.P548L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	548	CUT 2.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCATGCTGGGGAAGGTTCAG	0.587		NaN											0	0	0	0.007835	0	39	97				
NOP58	51602	broad.mit.edu	37	2	203152401	203152401	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:203152401G>T	uc002uzb.2	+	6	603	c.453G>T	c.(451-453)TTG>TTT	p.L151F		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	151					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						GATATAGATTGAAGTTTAGCG	0.348		NaN											1	0	1.51926e-22	0.01441	1.62875e-22	37	119				
MARCH4	57574	broad.mit.edu	37	2	217124125	217124125	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:217124125G>T	uc002vgb.2	-	4	2910	c.1143C>A	c.(1141-1143)ATC>ATA	p.I381I		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	381						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGATGTGCAGGATGGTATAAG	0.627		NaN											1	0	6.29468e-14	0.004878	6.57077e-14	33	41				
WNT6	7475	broad.mit.edu	37	2	219736442	219736442	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219736442G>A	uc002vjc.1	+	3	752	c.537G>A	c.(535-537)GGG>GGA	p.G179G		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	179					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACTTCGGGGACGAGAAGT	0.547		NaN											0	0	0	0.001984	0	5	12				
CCDC108	255101	broad.mit.edu	37	2	219886644	219886644	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219886644T>C	uc002vjl.1	-	18	3072	c.2988A>G	c.(2986-2988)GAA>GAG	p.E996E	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	996						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCTCCTTTTCCTTTGCCT	0.597		NaN											0	0	0	0.01441	0	118	19				
UGT1A3	54659	broad.mit.edu	37	2	234638530	234638530	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:234638530C>T	uc002vuy.2	+	1	758	c.758C>T	c.(757-759)TCT>TTT	p.S253F	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.S253F	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	253					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGTCATGCATCTGTGTGGCTG	0.507		NaN											0	0	0	0.00623	0	33	213				
CEP250	11190	broad.mit.edu	37	20	34063379	34063379	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:34063379C>T	uc002xcm.2	+	16	2295	c.1624C>T	c.(1624-1626)CTG>TTG	p.L542L	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	542	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTCAGTGAACTGATCACTCT	0.552		NaN											0	0	0	0.01441	0	76	199				
PRIC285	85441	broad.mit.edu	37	20	62198304	62198304	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198304C>T	uc002yfm.2	-	7	3299	c.2407G>A	c.(2407-2409)GAG>AAG	p.E803K	PRIC285_uc002yfl.1_Missense_Mutation_p.E234K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	803					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGCGCAATCTCAGCCAGATTC	0.662		NaN											0	0	0	0.004289	0	29	137				
PRIC285	85441	broad.mit.edu	37	20	62198314	62198314	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198314C>T	uc002yfm.2	-	7	3289	c.2397G>A	c.(2395-2397)CTG>CTA	p.L799L	PRIC285_uc002yfl.1_Silent_p.L230L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	799					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGCCAGATTCAGCCAGGACG	0.672		NaN											0	0	0	0.003271	0	27	131				
RIPK4	54101	broad.mit.edu	37	21	43161772	43161772	+	Silent	SNP	G	G	A	rs143300354		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr21:43161772G>A	uc002yzn.1	-	8	1629	c.1581C>T	c.(1579-1581)AAC>AAT	p.N527N		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	527						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						TGACCGAGGCGTTCTTCTCCA	0.627		NaN											0	0	0	0.010729	0	12	55				
GGT1	2678	broad.mit.edu	37	22	25023476	25023476	+	Silent	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:25023476C>A	uc003aan.1	+	12	1585	c.1098C>A	c.(1096-1098)ATC>ATA	p.I366I	GGT1_uc003aas.1_Silent_p.I366I|GGT1_uc003aat.1_Silent_p.I366I|GGT1_uc003aau.1_Silent_p.I366I|GGT1_uc003aav.1_Silent_p.I366I|GGT1_uc003aaw.1_Silent_p.I366I|GGT1_uc003aax.1_Silent_p.I366I|GGT1_uc003aay.1_Silent_p.I22I	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	366	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CTCACCCGATCTCCTACTACA	0.642		NaN											1	0	6.68952e-21	0.013114	7.10762e-21	35	81				
SSTR3	6753	broad.mit.edu	37	22	37603104	37603104	+	Missense_Mutation	SNP	G	G	A	rs146500640	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:37603104G>A	uc003ara.2	-	2	801	c.739C>T	c.(739-741)CGG>TGG	p.R247W	SSTR3_uc003arb.2_Missense_Mutation_p.R247W	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	247	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CGCCGCCGCCGCTGGCACGAG	0.672		NaN											0	0	0	0.00333	0	16	31				
PMM1	5372	broad.mit.edu	37	22	41982104	41982104	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982104C>T	uc003bal.2	-	2	243	c.181G>A	c.(181-183)GAG>AAG	p.E61K		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	61					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						CCCAGCTGCTCAGCGATCTTA	0.567		NaN											0	0	0	0.01441	0	53	129				
PMM1	5372	broad.mit.edu	37	22	41982185	41982185	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982185C>G	uc003bal.2	-	2	162	c.100G>C	c.(100-102)GAG>CAG	p.E34Q		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	34					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						GCGGCCACCTCAGGGTCAATT	0.562		NaN											0	0	0	0.01441	0	43	149				
ITPR1	3708	broad.mit.edu	37	3	4712527	4712527	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:4712527G>C	uc003bqa.2	+	20	2469	c.2121G>C	c.(2119-2121)GAG>GAC	p.E707D	ITPR1_uc010hca.1_Missense_Mutation_p.E692D|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E692D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	707	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAACAAAGAGATTCGCAGCA	0.517		NaN											0	0	0	0.004482	0	9	35				
SLC6A6	6533	broad.mit.edu	37	3	14508095	14508095	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:14508095G>C	uc010heg.2	+	14	1095	c.804G>C	c.(802-804)CCG>CCC	p.P268P	SLC6A6_uc003byq.2_Silent_p.P268P|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	268					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						TGACGCTGCCGGGCGCGGGCG	0.617		NaN											0	0	0	0.004289	0	31	41				
NR2C2	7182	broad.mit.edu	37	3	15045491	15045491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:15045491C>T	uc003bzj.3	+	2	287	c.70C>T	c.(70-72)CAG>TAG	p.Q24*	NR2C2_uc003bzi.2_Nonsense_Mutation_p.Q24*	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	24					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TCAGCGCATTCAGGTACCTGC	0.527		NaN											0	0	0	0.00632	0	23	129				
BAP1	8314	broad.mit.edu	37	3	52439230	52439230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52439230G>A	uc003ddx.2	-	11	1127	c.1012C>T	c.(1012-1014)CCT>TCT	p.P338S	BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	338					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCTGGAGGCTTCACCACT	0.587		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.01441	0	85	106				
SEMA3G	56920	broad.mit.edu	37	3	52474095	52474095	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52474095G>T	uc003dea.1	-	11	1163	c.1163C>A	c.(1162-1164)GCA>GAA	p.A388E		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	388	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCTGGCTGTGCGGTCATCTT	0.622		NaN											1	0	1.15088e-07	0.004007	1.18575e-07	15	20				
CADM2	253559	broad.mit.edu	37	3	86115879	86115879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:86115879C>G	uc003dqj.2	+	10	1880	c.1254C>G	c.(1252-1254)ATC>ATG	p.I418M	CADM2_uc003dqk.2_Missense_Mutation_p.I387M|CADM2_uc003dql.2_Missense_Mutation_p.I420M|uc003dqm.1_5'Flank	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	418	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAGCCATTATCAATGCTGAAG	0.393		NaN											0	0	0	0.007291	0	28	36				
ZNF80	7634	broad.mit.edu	37	3	113955575	113955575	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:113955575C>T	uc010hqo.2	-	1	851	c.347G>A	c.(346-348)CGC>CAC	p.R116H	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	116	C2H2-type 3; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTGCGACCTGCGGTTGAAGAC	0.542		NaN											0	0	0	0.008871	0	16	29				
HPS3	84343	broad.mit.edu	37	3	148871395	148871395	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:148871395G>A	uc003ewu.1	+	7	1500	c.1360G>A	c.(1360-1362)GAA>AAA	p.E454K	HPS3_uc003ewt.1_Missense_Mutation_p.E454K|HPS3_uc011bnq.1_Missense_Mutation_p.E289K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	454						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAGAACCTGAAGCCATTCC	0.438		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.014323	0	20	57				
TXK	7294	broad.mit.edu	37	4	48082134	48082134	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:48082134T>A	uc003gxx.3	-	11	1054	c.968A>T	c.(967-969)CAT>CTT	p.H323L	TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.H10L	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	323	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TAGCTTTGAATGAGATAATTT	0.373		NaN											0	0	0	0.004482	0	8	30				
PPEF2	5470	broad.mit.edu	37	4	76797581	76797581	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:76797581G>A	uc003hix.2	-	11	1536	c.1179C>T	c.(1177-1179)TCC>TCT	p.S393S	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.S393S	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	393	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAGTTCCACGGAGCTCCGCA	0.657		NaN											0	0	0	0.004007	0	15	21				
ANK2	287	broad.mit.edu	37	4	114284603	114284603	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:114284603G>A	uc003ibe.3	+	40	10966	c.10866G>A	c.(10864-10866)GAG>GAA	p.E3622E	ANK2_uc003ibd.3_Silent_p.E1528E|ANK2_uc003ibf.3_Silent_p.E1537E|ANK2_uc011cgc.1_Silent_p.E713E|ANK2_uc003ibg.3_Silent_p.E521E|ANK2_uc003ibh.3_Silent_p.E211E|ANK2_uc011cgd.1_Silent_p.E924E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3589	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTGGCTAGAGAGGGATGGGA	0.428		NaN											0	0	0	0.012319	0	17	123				
FGG	2266	broad.mit.edu	37	4	155531252	155531252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:155531252C>T	uc003ioj.2	-	5	640	c.499G>A	c.(499-501)GAC>AAC	p.D167N	FGG_uc003iog.2_Missense_Mutation_p.D167N|FGG_uc003ioh.2_Missense_Mutation_p.D167N|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D167N	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	167					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCACCGTGTCTTTGCAAGGT	0.363		NaN											0	0	0	0.004878	0	33	47				
CCDC110	256309	broad.mit.edu	37	4	186380148	186380148	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186380148T>C	uc003ixu.3	-	6	1669	c.1593A>G	c.(1591-1593)CAA>CAG	p.Q531Q	CCDC110_uc003ixv.3_Silent_p.Q494Q|CCDC110_uc011ckt.1_Silent_p.Q531Q	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	531	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTAAAGAAAGTTGTATATTTT	0.264		NaN											0	0	0	0.014323	0	23	8				
IRX1	79192	broad.mit.edu	37	5	3600252	3600252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:3600252C>T	uc003jde.2	+	2	1242	c.1190C>T	c.(1189-1191)CCC>CTC	p.P397L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GTTGGCGCTCCCCACGCCGCG	0.662		NaN											0	0	0	0.003163	0	12	63				
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:7861273G>C	uc003jeb.2	-	6	2010	c.1873C>G	c.(1873-1875)CAA>GAA	p.Q625E	FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TGAACAACTTGATAACCGAGT	0.323		NaN											0	0	0	0.01441	0	53	68				
RAD17	5884	broad.mit.edu	37	5	68684860	68684860	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:68684860G>A	uc003jwo.2	+	9	990	c.928_splice	c.e9-1	p.N310_splice	RAD17_uc003jwg.2_Splice_Site_p.N299_splice|RAD17_uc003jwh.2_Splice_Site_p.N299_splice|RAD17_uc003jwi.2_Splice_Site_p.N299_splice|RAD17_uc003jwj.2_Splice_Site_p.N299_splice|RAD17_uc003jwk.2_Splice_Site_p.N299_splice|RAD17_uc003jwl.2_Splice_Site_p.N299_splice|RAD17_uc003jwm.2_Splice_Site_p.N134_splice|RAD17_uc003jwn.2_Splice_Site_p.N213_splice	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		tcttattttaGAATGGAGGAA	0.279		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.009096	0	4	34				
LYSMD3	116068	broad.mit.edu	37	5	89815210	89815210	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:89815210G>A	uc003kjr.2	-	3	495	c.347C>T	c.(346-348)TCC>TTC	p.S116F	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.F96F	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	116	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TTCGGTCAAGGAACTGAACTT	0.398		NaN											0	0	0	0.007291	0	25	58				
CLTB	1212	broad.mit.edu	37	5	175823491	175823491	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:175823491G>A	uc003meh.2	-	6	682	c.507C>T	c.(505-507)ATC>ATT	p.I169I	CLTB_uc003mei.2_Intron|CLTB_uc011dfn.1_Intron	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	169					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CGTAGCCGATGATATCAGCAT	0.348		NaN											0	0	0	0.012319	0	19	32				
RGS14	10636	broad.mit.edu	37	5	176793178	176793178	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:176793178A>T	uc003mgf.2	+	3	250	c.68A>T	c.(67-69)GAG>GTG	p.E23V	RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	23					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTGCAGAGCTGAGCAGC	0.682		NaN											0	0	0	0.001855	0	9	33				
HIST1H3I	8354	broad.mit.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:27839778C>G	uc003njy.2	-	1	322	c.316G>C	c.(316-318)GAG>CAG	p.E106Q		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						TTGGTATCCTCAAATAGCCCC	0.572		NaN											0	0	0	0.01441	0	58	82				
CDSN	1041	broad.mit.edu	37	6	31084799	31084799	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:31084799G>C	uc003nsm.1	-	2	620	c.593C>G	c.(592-594)TCT>TGT	p.S198C	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	198	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						GGTCTGGGAAGAGGAAGAGCT	0.572		NaN											0	0	0	0.01441	0	11	106				
FAM46A	55603	broad.mit.edu	37	6	82459570	82459570	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:82459570C>T	uc003pjg.2	-	3	1489	c.1171G>A	c.(1171-1173)GAC>AAC	p.D391N	FAM46A_uc003pjf.2_Missense_Mutation_p.D410N	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	391											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ACATTTTGGTCAGCTAACACC	0.453		NaN											0	0	0	0.01441	0	52	10				
CASP8AP2	9994	broad.mit.edu	37	6	90573259	90573259	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:90573259G>A	uc003pnr.2	+	7	2027	c.1831G>A	c.(1831-1833)GAA>AAA	p.E611K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E611K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E611K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	611					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCCATAAGTGAACATATCTT	0.423		NaN											0	0	0	0.009535	0	23	2				
FUT9	10690	broad.mit.edu	37	6	96651476	96651476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:96651476G>A	uc003pop.3	+	3	786	c.445G>A	c.(445-447)GAG>AAG	p.E149K		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	149	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAGTGGCATTGAGCACTTGTT	0.453		NaN											0	0	0	0.00333	0	21	29				
SMPD2	6610	broad.mit.edu	37	6	109763792	109763792	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:109763792G>C	uc003pti.2	+	6	849	c.455G>C	c.(454-456)CGT>CCT	p.R152P	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	152					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTAGCACATCGTGTGGCCCAA	0.542		NaN											0	0	0	0.008291	0	8	90				
GPER	2852	broad.mit.edu	37	7	1131766	1131766	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:1131766G>A	uc010ksd.1	+	2	791	c.402G>A	c.(400-402)TCG>TCA	p.S134S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.S134S|GPER_uc003ska.1_Silent_p.S134S|GPER_uc003skb.2_Silent_p.S134S	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	134	Helical; Name=3; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CCTTCATGTCGCTCTTCCTGC	0.607		NaN											0	0	0	0.004289	0	31	118				
TNRC18	84629	broad.mit.edu	37	7	5410707	5410707	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:5410707G>A	uc003soi.3	-	11	3867	c.3518C>T	c.(3517-3519)CCG>CTG	p.P1173L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1173	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGAGGCGGCAGCTCTGT	0.706		NaN											0	0	0	0.008871	0	18	62				
FAM188B	84182	broad.mit.edu	37	7	30891838	30891838	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:30891838G>C	uc003tbt.2	+	11	1631	c.1554G>C	c.(1552-1554)TCG>TCC	p.S518S	FAM188B_uc010kwe.2_Silent_p.S489S|AQP1_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	518											0						TTAGGGCTTCGAGAACACAGC	0.463		NaN											0	0	0	0.00333	0	18	113				
BBS9	27241	broad.mit.edu	37	7	33376191	33376191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:33376191G>A	uc003tdn.1	+	10	1668	c.1155G>A	c.(1153-1155)ATG>ATA	p.M385I	BBS9_uc003tdo.1_Missense_Mutation_p.M385I|BBS9_uc003tdp.1_Missense_Mutation_p.M385I|BBS9_uc003tdq.1_Missense_Mutation_p.M385I|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.M263I	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	385					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ATGTAGAAATGAAAGAACTTC	0.333		NaN							Bardet-Biedl_syndrome				0	0	0	0.009096	0	4	29				
PURB	5814	broad.mit.edu	37	7	44924070	44924070	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:44924070C>A	uc003tme.2	-	1	891	c.878G>T	c.(877-879)CGA>CTA	p.R293L		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	293					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding				0						CCCACCACGTCGCTCATAAAG	0.587		NaN											1	0	2.29192e-23	0.01441	2.46822e-23	41	148				
FZD1	8321	broad.mit.edu	37	7	90896136	90896136	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:90896136C>T	uc003ula.2	+	1	2354	c.1941C>T	c.(1939-1941)GTC>GTT	p.V647V		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	647	PDZ-binding.|Cytoplasmic (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGACTACAGTCTGAGACCCGG	0.627		NaN											0	0	0	0.004289	0	32	89				
ACHE	43	broad.mit.edu	37	7	100490233	100490233	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100490233C>T	uc003uxd.2	-	2	1431	c.1275G>A	c.(1273-1275)CTG>CTA	p.L425L	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L425L|ACHE_uc003uxf.2_Silent_p.L425L|ACHE_uc003uxg.2_Silent_p.L425L|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Silent_p.L425L	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	425					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGGCCTCCCTCAGGCGTGCCG	0.697		NaN											0	0	0	0.006214	0	8	33				
ACHE	43	broad.mit.edu	37	7	100491541	100491541	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100491541C>A	uc003uxd.2	-	1	469	c.313G>T	c.(313-315)GAC>TAC	p.D105Y	ACHE_uc003uxe.2_Missense_Mutation_p.D105Y|ACHE_uc003uxf.2_Missense_Mutation_p.D105Y|ACHE_uc003uxg.2_Missense_Mutation_p.D105Y|ACHE_uc003uxh.2_Missense_Mutation_p.D105Y|ACHE_uc003uxi.2_Missense_Mutation_p.D105Y|ACHE_uc003uxj.1_Missense_Mutation_p.D224Y	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	105					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TATAGGGTGTCCACATATTGG	0.592		NaN											1	0	1.81118e-26	0.01441	1.95937e-26	45	167				
ATP6V1H	51606	broad.mit.edu	37	8	54708314	54708314	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:54708314G>C	uc003xrl.2	-	9	915	c.763C>G	c.(763-765)CAA>GAA	p.Q255E	ATP6V1H_uc003xrk.2_Missense_Mutation_p.Q215E|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Q255E|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Q237E|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Q175E|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Q191E	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	255					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCACACATTTGAGGACTGAAT	0.403		NaN											0	0	0	0.01441	0	62	81				
TRPA1	8989	broad.mit.edu	37	8	72981353	72981353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:72981353G>A	uc003xza.2	-	3	524	c.349C>T	c.(349-351)CTT>TTT	p.L117F		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	117	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTGCTGAGAAGAAACTTAACG	0.413		NaN											0	0	0	0.009718	0	44	187				
KIAA1429	25962	broad.mit.edu	37	8	95523769	95523769	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:95523769G>A	uc003ygo.1	-	13	3047	c.3034C>T	c.(3034-3036)CTT>TTT	p.L1012F	KIAA1429_uc003ygp.2_Missense_Mutation_p.L1012F|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1012					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448		NaN											0	0	0	0.007413	0	18	209				
PABPC1	26986	broad.mit.edu	37	8	101719200	101719200	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:101719200G>A	uc003yjs.1	-	10	1866	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	PABPC1_uc011lhc.1_Silent_p.I422I|PABPC1_uc011lhd.1_Silent_p.I409I|PABPC1_uc003yjt.1_Silent_p.I451I|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	454					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAGCTGGGCGGATAGCACCGG	0.433		NaN											0	0	0	0.010504	0	20	120				
TRPS1	7227	broad.mit.edu	37	8	116616194	116616194	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:116616194C>G	uc003ynz.2	-	3	2422	c.1963G>C	c.(1963-1965)GAT>CAT	p.D655H	TRPS1_uc011lhy.1_Missense_Mutation_p.D659H|TRPS1_uc003yny.2_Missense_Mutation_p.D668H|TRPS1_uc010mcy.2_Missense_Mutation_p.D655H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	655	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCTGCCCATCCGATCCTTGC	0.463		NaN							Langer-Giedion_syndrome				0	0	0	0.003163	0	15	94				
TG	7038	broad.mit.edu	37	8	133913623	133913623	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:133913623G>C	uc003ytw.2	+	16	3500	c.3459G>C	c.(3457-3459)AAG>AAC	p.K1153N	TG_uc010mdw.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1153	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTGCTCAAGAGTGGAGTCC	0.607		NaN											0	0	0	0.01441	0	66	136				
KIFC2	90990	broad.mit.edu	37	8	145697780	145697780	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145697780C>G	uc003zcz.2	+	15	1709	c.1644C>G	c.(1642-1644)GCC>GCG	p.A548A	KIFC2_uc003zda.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	548	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCGCCTGGCCGTGAGGCAGG	0.657		NaN											0	0	0	0.001168	0	5	23				
GPT	2875	broad.mit.edu	37	8	145732224	145732224	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145732224C>T	uc011lli.1	+	11	1555	c.1398C>T	c.(1396-1398)TTC>TTT	p.F466F	GPT_uc003zdh.3_Silent_p.F466F|MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	466					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTACCACTTCCGGTGAGGCC	0.637		NaN											0	0	0	0.010771	0	40	9				
ACO1	48	broad.mit.edu	37	9	32450097	32450097	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:32450097G>C	uc003zqw.3	+	21	2813	c.2658G>C	c.(2656-2658)AAG>AAC	p.K886N	ACO1_uc003zqx.3_Missense_Mutation_p.K886N|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	886					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGATCCGCAAGATGGCCAAGT	0.592		NaN											0	0	0	0.014323	0	21	42				
UBAP2	55833	broad.mit.edu	37	9	33943441	33943441	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:33943441G>A	uc003ztq.1	-	15	1805	c.1692C>T	c.(1690-1692)ATC>ATT	p.I564I	UBAP2_uc011loc.1_Silent_p.I473I|UBAP2_uc011lod.1_Silent_p.I297I|UBAP2_uc011loe.1_Silent_p.I319I|UBAP2_uc011lof.1_Silent_p.I489I|UBAP2_uc011log.1_Silent_p.I510I|UBAP2_uc003ztr.2_Silent_p.I436I|UBAP2_uc003zts.2_Silent_p.I197I	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	564										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATACAAGCTGATGGGAATCT	0.393		NaN											0	0	0	0.008361	0	27	60				
UBAP2	55833	broad.mit.edu	37	9	34017107	34017107	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34017107G>A	uc003ztq.1	-	2	153	c.40C>T	c.(40-42)CGG>TGG	p.R14W	UBAP2_uc011loc.1_5'UTR|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_5'UTR|UBAP2_uc011lof.1_5'UTR|UBAP2_uc011log.1_Missense_Mutation_p.R13W|UBAP2_uc003ztr.2_5'UTR	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	14										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGTTTTTCCCGAGCACCTCGA	0.353		NaN											0	0	0	0.006122	0	15	80				
DNAJB5	25822	broad.mit.edu	37	9	34996695	34996695	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34996695C>G	uc003zvt.2	+	3	783	c.645C>G	c.(643-645)ATC>ATG	p.I215M	DNAJB5_uc003zvs.2_Missense_Mutation_p.I249M|DNAJB5_uc011los.1_Missense_Mutation_p.I287M	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	215					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATAGTCATCAAGCGTGGCT	0.552		NaN											0	0	0	0.013537	0	11	34				
FAM75A6	389730	broad.mit.edu	37	9	43624988	43624988	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:43624988C>G	uc011lrb.1	-	4	3728	c.3699G>C	c.(3697-3699)CAG>CAC	p.Q1233H		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1233						integral to membrane					0						CTTGAAACTTCTGTTTGTGCT	0.502		NaN											0	0	0	0.01441	0	86	507				
APBA1	320	broad.mit.edu	37	9	72131394	72131394	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:72131394C>T	uc004ahh.2	-	2	1009	c.733G>A	c.(733-735)GAG>AAG	p.E245K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	245	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CTGTCGGACTCGCCGTCGGAG	0.701		NaN											0	0	0	0.012319	0	16	27				
FAM120A	23196	broad.mit.edu	37	9	96214620	96214620	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:96214620C>G	uc004atw.2	+	1	448	c.423C>G	c.(421-423)CCC>CCG	p.P141P	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Silent_p.T124T|FAM120A_uc004atv.2_Silent_p.P141P	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	141						cytoplasm|plasma membrane	RNA binding				0						TCCTGCCGCCCGTCTGCATGG	0.567		NaN											0	0	0	0.00308	0	6	41				
FPGS	2356	broad.mit.edu	37	9	130570856	130570856	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:130570856C>T	uc004bsg.1	+	10	892	c.842C>T	c.(841-843)CCG>CTG	p.P281L	FPGS_uc004bsh.1_Missense_Mutation_p.P98L|FPGS_uc011mal.1_Missense_Mutation_p.P255L|FPGS_uc004bsi.1_Missense_Mutation_p.P231L	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	281					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	TACCTGTGTCCGATGCTGGAG	0.692		NaN											0	0	0	0.013537	0	9	20				
TOR1A	1861	broad.mit.edu	37	9	132584943	132584943	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:132584943C>T	uc004byl.2	-	2	438	c.361G>A	c.(361-363)GAG>AAG	p.E121K	TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Missense_Mutation_p.E121K	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	121					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				AGACCACCCTCGTAAATATTC	0.488		NaN											0	0	0	0.005524	0	39	150				
VAV2	7410	broad.mit.edu	37	9	136634579	136634579	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:136634579G>A	uc004ces.2	-	28	2440	c.2394C>T	c.(2392-2394)CTC>CTT	p.L798L	VAV2_uc004cer.2_Intron	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	798					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AAGCAAAGCTGAGGCCCTGAG	0.632		NaN											0	0	0	0.000602	0	5	24				
GATA1	2623	broad.mit.edu	37	X	48650333	48650333	+	Silent	SNP	G	G	A	rs145355350		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:48650333G>A	uc004dkq.3	+	3	394	c.303G>A	c.(301-303)ACG>ACA	p.T101T		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	101					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						ACGGCAAGACGGGGCTCTACC	0.612		NaN	Mis|F		megakaryoblastic leukemia of Downs Syndrome								0	0	0	0.004878	0	38	4				
AWAT2	158835	broad.mit.edu	37	X	69262998	69262998	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:69262998A>T	uc004dxt.1	-	5	574	c.568T>A	c.(568-570)TGC>AGC	p.C190S		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	190						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						CTGTATCTGCACTCAGCCAGT	0.547		NaN											0	0	0	0.009096	0	3	6				
NXF5	55998	broad.mit.edu	37	X	101095527	101095527	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:101095527T>C	uc011mrk.1	-	10	1002	c.642A>G	c.(640-642)CTA>CTG	p.L214L	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	214	LRR 3.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						CTTCTAGCCATAGCTCTTCGA	0.577		NaN											0	0	0	0.010504	0	14	70				
WDR44	54521	broad.mit.edu	37	X	117578414	117578414	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:117578414C>G	uc004eqn.2	+	19	3029	c.2604C>G	c.(2602-2604)AAC>AAG	p.N868K	WDR44_uc004eqo.2_Missense_Mutation_p.N860K|WDR44_uc011mtr.1_Missense_Mutation_p.N779K|WDR44_uc010nqi.2_Missense_Mutation_p.N578K	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	868						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CAGAAGGGAACGAGAAAAGTG	0.388		NaN											0	0	0	0.011902	0	44	52				
ACAP3	116983	broad.mit.edu	37	1	1235580	1235580	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1235580G>A	uc001aeb.2	-	7	599	c.525C>T	c.(523-525)ATC>ATT	p.I175I	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.I133I|ACAP3_uc001aec.1_Silent_p.I133I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	175					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						GCAGAACATTGATCTGCCAGA	0.632		NaN											0	0	0	0.013537	0	13	15				
TAS1R3	83756	broad.mit.edu	37	1	1267925	1267925	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1267925G>A	uc010nyk.1	+	3	1014	c.1014G>A	c.(1012-1014)GTG>GTA	p.V338V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	338	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCCAGTACGTGAAGACGCACC	0.701		NaN											0	0	0	0.004482	0	9	27				
TAS1R3	83756	broad.mit.edu	37	1	1268955	1268955	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1268955G>A	uc010nyk.1	+	6	1670	c.1670G>A	c.(1669-1671)CGC>CAC	p.R557H		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	557	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCTTCCGCCGCAGGTCTCGG	0.657		NaN											0	0	0	0.010729	0	11	31				
LRRC47	57470	broad.mit.edu	37	1	3697705	3697705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:3697705G>A	uc001akx.1	-	7	1727	c.1699C>T	c.(1699-1701)CCG>TCG	p.P567S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCTTGGACGGGTACACCACC	0.652		NaN											0	0	0	0.006122	0	18	45				
H6PD	9563	broad.mit.edu	37	1	9305294	9305294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:9305294C>T	uc001apt.2	+	2	574	c.301C>T	c.(301-303)CAG>TAG	p.Q101*		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	101	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACAAGGATCAGTTCCTGCA	0.617		NaN											0	0	0	0.019004	0	39	29				
VPS13D	55187	broad.mit.edu	37	1	12401928	12401928	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:12401928C>T	uc001atv.2	+	41	8859	c.8718C>T	c.(8716-8718)ACC>ACT	p.T2906T	VPS13D_uc001atw.2_Silent_p.T2881T|VPS13D_uc001atx.2_Silent_p.T2093T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2905					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCACCCTGACCACCACACCCA	0.572		NaN											0	0	0	0.008871	0	18	70				
SPEN	23013	broad.mit.edu	37	1	16265886	16265886	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:16265886C>T	uc001axk.1	+	15	11163	c.10959C>T	c.(10957-10959)ATC>ATT	p.I3653I	SPEN_uc010obp.1_Silent_p.I3612I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3653	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCCAACATCTCTCCCCACC	0.557		NaN											0	0	0	0.01441	0	57	138				
UBR4	23352	broad.mit.edu	37	1	19439182	19439182	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19439182G>A	uc001bbi.2	-	78	11641	c.11637C>T	c.(11635-11637)GTC>GTT	p.V3879V	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3879					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATGTTCTGTGACAGCCGAGG	0.582		NaN											0	0	0	0.011902	0	44	112				
HTR6	3362	broad.mit.edu	37	1	19992501	19992501	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19992501G>A	uc001bcl.2	+	1	722	c.255G>A	c.(253-255)CTG>CTA	p.L85L		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	85	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGGCCATGCTGAACGCGCTGT	0.667		NaN											0	0	0	0.00308	0	8	36				
RAP1GAP	5909	broad.mit.edu	37	1	21940120	21940120	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:21940120C>A	uc001bex.2	-	9	732	c.474_splice	c.e9+1	p.K158_splice	RAP1GAP_uc001bev.2_Splice_Site_p.K158_splice|RAP1GAP_uc001bew.2_Splice_Site_p.K222_splice|RAP1GAP_uc001bey.2_Splice_Site_p.K158_splice	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGAGACCTCACCTTTGCCATC	0.597		NaN											1	0	1.16021e-09	0.007291	1.21631e-09	28	36				
MYOM3	127294	broad.mit.edu	37	1	24408602	24408602	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:24408602G>C	uc001bin.3	-	18	2332	c.2169C>G	c.(2167-2169)CCC>CCG	p.P723P	MYOM3_uc001bim.3_Silent_p.P380P|MYOM3_uc001bio.2_Silent_p.P723P|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	723	Fibronectin type-III 4.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACGACGCTTGGGGGGTTTCC	0.592		NaN											0	0	0	0.00308	0	8	18				
SEPN1	57190	broad.mit.edu	37	1	26135144	26135144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:26135144G>A	uc010oer.1	+	7	666	c.611G>A	c.(610-612)CGC>CAC	p.R204H	SEPN1_uc010oes.1_Missense_Mutation_p.R170H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	204						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCACCCGCCACTTCCAG	0.657		NaN											0	0	0	0.015359	0	34	58				
ARID1A	8289	broad.mit.edu	37	1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27059194C>T	uc001bmv.1	+	4	2204	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q228*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.006122	0	19	69		Valid		
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27948152C>T	uc001boj.2	-	3	492	c.346G>A	c.(346-348)GAG>AAG	p.E116K	FGR_uc001bok.2_Missense_Mutation_p.E116K|FGR_uc001bol.2_Missense_Mutation_p.E116K|FGR_uc001bom.2_Missense_Mutation_p.E116K	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	116	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592		NaN											0	0	0	0.00245	0	14	44				
PTPRU	10076	broad.mit.edu	37	1	29585795	29585795	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:29585795C>G	uc001bru.2	+	4	610	c.500C>G	c.(499-501)TCC>TGC	p.S167C	PTPRU_uc001brv.2_Missense_Mutation_p.S167C|PTPRU_uc001brw.2_Missense_Mutation_p.S167C|PTPRU_uc009vtq.2_Missense_Mutation_p.S167C|PTPRU_uc009vtr.2_Missense_Mutation_p.S167C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	167	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCTCATCTCCCCAGACCGC	0.642		NaN											0	0	0	0.00308	0	7	38				
SPOCD1	90853	broad.mit.edu	37	1	32257898	32257898	+	Silent	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:32257898A>T	uc001bts.1	-	15	2938	c.2880T>A	c.(2878-2880)TCT>TCA	p.S960S	SPOCD1_uc001btr.1_Silent_p.S48S|SPOCD1_uc001btt.2_Silent_p.S265S|SPOCD1_uc001btu.2_Silent_p.S960S|SPOCD1_uc001btv.2_Silent_p.S453S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	960	SPOC.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTGCTCCACAGAGGCCAGCC	0.667		NaN											0	0	0	0.004482	0	8	11				
RBBP4	5928	broad.mit.edu	37	1	33134689	33134689	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:33134689T>C	uc001bvr.2	+	6	876	c.717T>C	c.(715-717)CAT>CAC	p.H239H	RBBP4_uc001bvs.2_Silent_p.H238H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Silent_p.H204H	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	239	WD 3.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTACTCCATGAGTCTCTGT	0.413		NaN											0	0	0	0.01441	0	53	70				
GJB4	127534	broad.mit.edu	37	1	35227557	35227557	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:35227557C>T	uc001bxv.1	+	2	1072	c.702C>T	c.(700-702)TGC>TGT	p.C234C	GJB4_uc001bxw.3_Silent_p.C234C	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	234	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGATACGTGCCCACCATATG	0.612		NaN											0	0	0	0.005443	0	26	47				
THRAP3	9967	broad.mit.edu	37	1	36754808	36754808	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:36754808A>C	uc001cae.3	+	5	1412	c.1188A>C	c.(1186-1188)AAA>AAC	p.K396N	THRAP3_uc001caf.3_Missense_Mutation_p.K396N|THRAP3_uc001cag.1_Missense_Mutation_p.K396N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	396					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCTCCCAAAACTGATTCTG	0.418		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.005443	0	29	68				
DPH2	1802	broad.mit.edu	37	1	44435913	44435913	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:44435913G>A	uc001ckz.2	+	1	261	c.66G>A	c.(64-66)CTG>CTA	p.L22L	DPH2_uc001cla.2_Silent_p.L22L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	22					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCAGGACTGCTTACTCCTC	0.632		NaN											0	0	0	0.015359	0	35	35				
LRRC42	115353	broad.mit.edu	37	1	54417905	54417905	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:54417905G>T	uc001cwj.1	+	2	433	c.233G>T	c.(232-234)CGA>CTA	p.R78L	LRRC42_uc001cwl.1_Missense_Mutation_p.R78L|LRRC42_uc001cwk.1_Missense_Mutation_p.R78L|LRRC42_uc009vzm.1_Missense_Mutation_p.R78L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	78											0						ACATACACCCGAGAGGGGAAT	0.483		NaN											1	0	2.24059e-21	0.00632	2.43367e-21	30	97				
TMEM61	199964	broad.mit.edu	37	1	55452006	55452006	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:55452006C>A	uc001cyd.2	+	2	526	c.252C>A	c.(250-252)GGC>GGA	p.G84G		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	84	Helical; (Potential).					integral to membrane					0						TGCTCATTGGCCTGCTGTGGT	0.647		NaN											1	0	3.01185e-09	0.003954	3.15139e-09	26	94				
DOCK7	85440	broad.mit.edu	37	1	62939693	62939693	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:62939693G>C	uc001daq.2	-	47	6173	c.6139C>G	c.(6139-6141)CAT>GAT	p.H2047D	DOCK7_uc001dan.2_Missense_Mutation_p.H1910D|DOCK7_uc001dao.2_Missense_Mutation_p.H1908D|DOCK7_uc001dap.2_Missense_Mutation_p.H2027D|DOCK7_uc001dam.2_Missense_Mutation_p.H1229D|DOCK7_uc010oov.1_Missense_Mutation_p.H788D|DOCK7_uc001dar.1_Missense_Mutation_p.H221D	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2058	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AGTTTATTATGATGTCTGAAG	0.368		NaN											0	0	0	0.00499	0	14	29				
TNNI3K	51086	broad.mit.edu	37	1	74737353	74737353	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:74737353C>T	uc001dgf.1	+	5	456	c.405C>T	c.(403-405)CTC>CTT	p.L135L	TNNI3K_uc001dgc.1_Silent_p.L236L|TNNI3K_uc001dgd.2_Silent_p.L236L|TNNI3K_uc001dge.1_Silent_p.L236L	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	135	ANK 3.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ACGGTGGCCTCACTGCCCTCC	0.433		NaN											0	0	0	0.005524	0	38	57				
WDR63	126820	broad.mit.edu	37	1	85592370	85592370	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:85592370C>G	uc001dkt.2	+	20	2480	c.2289C>G	c.(2287-2289)ATC>ATG	p.I763M	WDR63_uc009wcl.2_Missense_Mutation_p.I724M	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	763	WD 5.									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAACTATGATCACCTACATCA	0.383		NaN											0	0	0	0.007291	0	27	46				
LPPR5	163404	broad.mit.edu	37	1	99387566	99387566	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:99387566G>A	uc001dsb.2	-	4	892	c.670C>T	c.(670-672)CCA>TCA	p.P224S	LPPR5_uc001dsc.2_Missense_Mutation_p.P224S	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	224						integral to membrane	hydrolase activity				0						CATAGAACTGGCTTAGCAAGT	0.368		NaN											0	0	0	0.013537	0	13	36				
PSMA5	5686	broad.mit.edu	37	1	109957934	109957934	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:109957934C>G	uc001dxn.2	-	3	233	c.148G>C	c.(148-150)GTG>CTG	p.V50L	PSMA5_uc010ovj.1_5'UTR	NM_002790	NP_002781	P28066	PSA5_HUMAN	proteasome alpha 5 subunit	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTCTTCTCCACAGCTAGGCAC	0.433		NaN											0	0	0	0.00632	0	29	31				
GSTM4	2948	broad.mit.edu	37	1	110199865	110199865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:110199865G>A	uc001dyf.2	+	3	455	c.141G>A	c.(139-141)CTG>CTA	p.L47L	GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.L47L|GSTM4_uc001dyh.2_Silent_p.L47L|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	47	Glutathione binding (By similarity).|GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCAGTGGCTGAATGAAAAAT	0.567		NaN											0	0	0	0.012319	0	19	44				
PRPF3	9129	broad.mit.edu	37	1	150307445	150307445	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150307445G>T	uc001eum.3	+	7	930	c.768G>T	c.(766-768)CTG>CTT	p.L256L	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L215L|PRPF3_uc010pcb.1_Silent_p.L207L|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	256					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTACACCACTGATCCTGGATG	0.448		NaN											1	0	0.000308642	0.003163	0.000315036	14	11				
TARS2	80222	broad.mit.edu	37	1	150471769	150471769	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150471769G>T	uc001euq.2	+	13	1624	c.1617G>T	c.(1615-1617)AAG>AAT	p.K539N	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.K457N|TARS2_uc009wlt.2_Missense_Mutation_p.K165N|TARS2_uc009wls.2_Missense_Mutation_p.K409N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	539					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATGGACCTAAGGTAAGCTTGG	0.348		NaN											1	0	2.24722e-20	0.01441	2.43599e-20	48	80				
F11R	50848	broad.mit.edu	37	1	160970508	160970508	+	Missense_Mutation	SNP	G	G	A	rs116727809	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:160970508G>A	uc009wtt.2	-	4	571	c.301C>T	c.(301-303)CGG>TGG	p.R101W	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.R101W|F11R_uc009wtu.2_Missense_Mutation_p.R101W|F11R_uc010pjw.1_Missense_Mutation_p.R105W|F11R_uc001fxf.3_Missense_Mutation_p.R101W	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	101	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGTCTTCCCGTGTCACGGAC	0.542		NaN											0	0	0	0.016723	0	13	38				
TNR	7143	broad.mit.edu	37	1	175334312	175334312	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:175334312G>A	uc001gkp.1	-	10	2502	c.2421C>T	c.(2419-2421)AAC>AAT	p.N807N	TNR_uc009wwu.1_Silent_p.N807N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	807	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGGGCTGTAGTTAAGAATGA	0.532		NaN											0	0	0	0.010729	0	11	28				
PAPPA2	60676	broad.mit.edu	37	1	176659286	176659286	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:176659286C>T	uc001gkz.2	+	5	3315	c.2151C>T	c.(2149-2151)CTC>CTT	p.L717L	PAPPA2_uc001gky.1_Silent_p.L717L|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	717	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GCATTGTCCTCAGCCCAGCAT	0.423		NaN											0	0	0	0.016522	0	24	60				
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:181745299C>T	uc001gow.2	+	38	5367	c.5202C>T	c.(5200-5202)TCC>TCT	p.S1734S	CACNA1E_uc009wxs.2_Silent_p.S1622S|CACNA1E_uc001gox.1_Silent_p.S960S|CACNA1E_uc009wxt.2_Silent_p.S960S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1734	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GGGACTCCTCCATCCTGGGGC	0.607		NaN											0	0	0	0.001168	0	6	117				
RGS16	6004	broad.mit.edu	37	1	182572448	182572448	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:182572448C>A	uc001gpl.3	-	2	225	c.71G>T	c.(70-72)GGG>GTG	p.G24V	RGS16_uc010pnv.1_Missense_Mutation_p.G24V	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	24					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						AAGAAAGATCCCCAGACGTGT	0.478		NaN											1	0	3.65163e-15	0.00632	3.87316e-15	26	36				
IVNS1ABP	10625	broad.mit.edu	37	1	185269206	185269206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:185269206G>A	uc001grl.2	-	13	2049	c.1426C>T	c.(1426-1428)CAA>TAA	p.Q476*	IVNS1ABP_uc001gri.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc001grj.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.Q258*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Nonsense_Mutation_p.Q136*	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	476	Kelch 3.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						AGTCCTTTTTGACCATATGGA	0.323		NaN											0	0	0	0.007413	0	19	30				
HMCN1	83872	broad.mit.edu	37	1	186057737	186057737	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:186057737G>C	uc001grq.1	+	63	9807	c.9578_splice	c.e63-1	p.E3193_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCTACCTCTAGAAAATTCTGA	0.338		NaN											0	0	0	0.006214	0	9	15				
ASPM	259266	broad.mit.edu	37	1	197072405	197072405	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:197072405G>C	uc001gtu.2	-	18	6233	c.5976C>G	c.(5974-5976)ATC>ATG	p.I1992M	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1992	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTTTTTTCATGATTTTCCACT	0.338		NaN											0	0	0	0.005443	0	29	80				
CR2	1380	broad.mit.edu	37	1	207644106	207644106	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207644106T>C	uc001hfw.2	+	7	1341	c.1247T>C	c.(1246-1248)ATC>ACC	p.I416T	CR2_uc001hfv.2_Missense_Mutation_p.I416T|CR2_uc009xch.2_Missense_Mutation_p.I416T|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	416	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCTCCTAACATCCTCAATGGG	0.408		NaN											0	0	0	0.006122	0	16	41				
SLC30A1	7779	broad.mit.edu	37	1	211751728	211751728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:211751728C>T	uc001hio.1	-	1	372	c.227G>A	c.(226-228)CGA>CAA	p.R76Q		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	76	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	p.R76L(1)		ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TACCTCGGCTCGGATCCAGCC	0.662		NaN											0	0	0	0.00308	0	8	13				
MARK1	4139	broad.mit.edu	37	1	220825429	220825429	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:220825429C>G	uc001hmn.3	+	15	2270	c.1673C>G	c.(1672-1674)TCT>TGT	p.S558C	MARK1_uc009xdw.2_Missense_Mutation_p.S558C|MARK1_uc010pun.1_Missense_Mutation_p.S558C|MARK1_uc001hmm.3_Missense_Mutation_p.S536C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	558					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		ATGTCCACTTCTGGTCATCCT	0.493		NaN											0	0	0	0.01892	0	25	46				
EXO1	9156	broad.mit.edu	37	1	242052811	242052811	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:242052811T>G	uc001hzh.2	+	16	2990	c.2450T>G	c.(2449-2451)GTC>GGC	p.V817G	EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.V817G|EXO1_uc009xgq.2_Missense_Mutation_p.V816G	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	817	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTGTCCCCAGTCAGAGATAAC	0.373		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.012319	0	22	65				
SCCPDH	51097	broad.mit.edu	37	1	246927628	246927628	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:246927628T>C	uc001ibr.2	+	10	1418	c.1071T>C	c.(1069-1071)AAT>AAC	p.N357N		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	357						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ACAAACCAAATATCAAAATTT	0.383		NaN											0	0	0	0.013726	0	33	38				
SEC61A2	55176	broad.mit.edu	37	10	12197894	12197894	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:12197894A>T	uc001ile.2	+	7	727	c.580A>T	c.(580-582)AAG>TAG	p.K194*	SEC61A2_uc010qbq.1_Nonsense_Mutation_p.K172*|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Nonsense_Mutation_p.K194*	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	194	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				CATTGTCTGGAAGGCCTTTAG	0.512		NaN											0	0	0	0.009718	0	45	91				
RUFY2	55680	broad.mit.edu	37	10	70105549	70105549	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:70105549C>T	uc001job.2	-	18	2229	c.1902G>A	c.(1900-1902)CAG>CAA	p.Q634Q	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Silent_p.Q189Q	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	648						nucleus	metal ion binding			ovary(1)	1						ATGAGCATCTCTGAATGAGCA	0.408		NaN											0	0	0	0.005443	0	29	78				
CDH23	64072	broad.mit.edu	37	10	73574927	73574927	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:73574927G>C	uc001jrx.3	+	68	10334	c.9957G>C	c.(9955-9957)GAG>GAC	p.E3319D	CDH23_uc001jsg.3_Missense_Mutation_p.E1079D|CDH23_uc001jsh.3_Missense_Mutation_p.E1044D|CDH23_uc001jsi.3_Missense_Mutation_p.E1044D|CDH23_uc001jsj.3_Missense_Mutation_p.E216D|CDH23_uc010qjr.1_Missense_Mutation_p.E181D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3319	Cytoplasmic (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCGCTGCCGAGGCCACTGCCT	0.662		NaN											0	0	0	0.009096	0	4	9				
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:75457454T>C	uc009xri.2	-	1	101	c.60A>G	c.(58-60)CAA>CAG	p.Q20Q	AGAP5_uc001juu.3_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	20					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CCGACCCCTGTTGCTGGTCAA	0.607		NaN											0	0	0	0.009096	0	4	62				
ZMIZ1	57178	broad.mit.edu	37	10	81049571	81049571	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:81049571G>A	uc001kaf.2	+	9	1037	c.465G>A	c.(463-465)CAG>CAA	p.Q155Q	ZMIZ1_uc001kag.2_Silent_p.Q31Q|ZMIZ1_uc001kah.1_Silent_p.Q31Q	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	155					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTGGCAGCAGAACACCAACC	0.592		NaN											0	0	0	0.004482	0	7	42				
SNCG	6623	broad.mit.edu	37	10	88719796	88719796	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:88719796G>A	uc001keb.2	+	3	369	c.202G>A	c.(202-204)GAG>AAG	p.E68K	MMRN2_uc001kea.2_5'Flank|MMRN2_uc010qmn.1_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein	68				E -> K (in Ref. 1; AAB64109).		microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding				0						CGCCGTGAGCGAGGCTGTGGT	0.677		NaN											0	0	0	0.014758	0	5	6				
IFIT2	3433	broad.mit.edu	37	10	91061883	91061883	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:91061883G>A	uc009xts.2	+	1	178	c.3G>A	c.(1-3)ATG>ATA	p.M1I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	1					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				CTGCAACCATGAGGTAAATAT	0.468		NaN											0	0	0	0.016723	0	14	36				
IDE	3416	broad.mit.edu	37	10	94294474	94294474	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:94294474T>C	uc001kia.2	-	3	428	c.352A>G	c.(352-354)ACA>GCA	p.T118A		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	118					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTTCTTTGTTCCCAAAAAA	0.348		NaN											0	0	0	0.00499	0	18	40				
CYP2C9	1559	broad.mit.edu	37	10	96707616	96707616	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:96707616G>C	uc001kka.3	+	4	587	c.562G>C	c.(562-564)GAT>CAT	p.D188H	CYP2C9_uc009xut.2_Missense_Mutation_p.D188H	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	188					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAAACGTTTTGATTATAAAGA	0.383		NaN											0	0	0	0.005443	0	28	54				
TM9SF3	56889	broad.mit.edu	37	10	98307747	98307747	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98307747C>T	uc001kmm.3	-	8	1177	c.960_splice	c.e8-1	p.E320_splice	TM9SF3_uc010qot.1_Splice_Site_p.E320_splice|TM9SF3_uc001kmn.1_Splice_Site_p.E89_splice	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor							integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGATCCCCTCCTAAAAAGGCA	0.318		NaN											0	0	0	0.012213	0	34	42				
TM9SF3	56889	broad.mit.edu	37	10	98312731	98312731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98312731C>T	uc001kmm.3	-	6	963	c.746G>A	c.(745-747)AGA>AAA	p.R249K	TM9SF3_uc010qot.1_Missense_Mutation_p.R249K|TM9SF3_uc001kmn.1_Missense_Mutation_p.R18K	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	249						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATAATCTTTTCTTAATGTTCT	0.299		NaN											0	0	0	0.016723	0	13	26				
PITX3	5309	broad.mit.edu	37	10	103990676	103990676	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:103990676C>T	uc001kuu.1	-	4	658	c.504G>A	c.(502-504)AAG>AAA	p.K168K		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	168					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGGAAAGGTCTTGGCGGCGA	0.697		NaN											0	0	0	0.001168	0	4	6				
GBF1	8729	broad.mit.edu	37	10	104121532	104121532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:104121532G>A	uc001kux.1	+	14	1786	c.1546G>A	c.(1546-1548)GAG>AAG	p.E516K	GBF1_uc001kuy.1_Missense_Mutation_p.E516K|GBF1_uc001kuz.1_Missense_Mutation_p.E517K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATGCCTTATGAGATGAAGGA	0.468		NaN											0	0	0	0.003954	0	26	45				
OBFC1	79991	broad.mit.edu	37	10	105657330	105657330	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105657330C>T	uc001kxl.2	-	6	804	c.729G>A	c.(727-729)GTG>GTA	p.V243V	OBFC1_uc001kxm.2_Silent_p.V243V|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	243					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CACTGTGAATCACAGGCTGAT	0.517		NaN											0	0	0	0.010504	0	19	34				
SLK	9748	broad.mit.edu	37	10	105785423	105785423	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105785423A>G	uc001kxo.1	+	19	3687	c.3653A>G	c.(3652-3654)CAG>CGG	p.Q1218R	SLK_uc001kxp.1_Missense_Mutation_p.Q1187R	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1218					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATCAACACAGAGCCGGATT	0.433		NaN											0	0	0	0.008361	0	32	26				
TACC2	10579	broad.mit.edu	37	10	123846947	123846947	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:123846947T>C	uc001lfv.2	+	4	5292	c.4932T>C	c.(4930-4932)CCT>CCC	p.P1644P	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1644P|TACC2_uc010qtv.1_Silent_p.P1644P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1644						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGACTGTGCCTGAGGCCAACA	0.592		NaN											0	0	0	0.003163	0	15	19				
DMBT1	1755	broad.mit.edu	37	10	124399947	124399947	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:124399947A>T	uc001lgk.1	+	52	7053	c.6947A>T	c.(6946-6948)TAT>TTT	p.Y2316F	DMBT1_uc001lgl.1_Missense_Mutation_p.Y2306F|DMBT1_uc001lgm.1_Missense_Mutation_p.Y1688F|DMBT1_uc009xzz.1_Missense_Mutation_p.Y2315F|DMBT1_uc010qtx.1_Missense_Mutation_p.Y1036F|DMBT1_uc009yab.1_Missense_Mutation_p.Y1019F|DMBT1_uc009yac.1_Missense_Mutation_p.Y610F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2316	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTTTGACTTATGATCTAATC	0.448		NaN											0	0	0	0.00308	0	7	15				
PHRF1	57661	broad.mit.edu	37	11	608824	608824	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:608824G>A	uc001lqe.2	+	14	3499	c.3368G>A	c.(3367-3369)TGC>TAC	p.C1123Y	PHRF1_uc010qwc.1_Missense_Mutation_p.C1122Y|PHRF1_uc010qwd.1_Missense_Mutation_p.C1121Y|PHRF1_uc010qwe.1_Missense_Mutation_p.C1119Y|PHRF1_uc009ybz.1_Missense_Mutation_p.C913Y|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1123	Arg-rich.						RNA polymerase binding|zinc ion binding				0						GGAAGGGAGTGCTCCCCCACC	0.632		NaN											0	0	0	0.009096	0	4	29				
DCHS1	8642	broad.mit.edu	37	11	6643027	6643027	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:6643027T>C	uc001mem.1	-	21	10290	c.9880A>G	c.(9880-9882)ACG>GCG	p.T3294A	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3294	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTCCGTGTCATCAGGT	0.667		NaN											0	0	0	0.006214	0	9	11				
DENND5A	23258	broad.mit.edu	37	11	9167352	9167352	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:9167352G>A	uc001mhl.2	-	17	3123	c.2868C>T	c.(2866-2868)TAC>TAT	p.Y956Y	DENND5A_uc001mhk.2_Silent_p.Y299Y|DENND5A_uc010rbw.1_Silent_p.Y956Y|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	956	PLAT.									liver(1)	1						TCAGAATGTGGTACGGGATCA	0.498		NaN											0	0	0	0.01441	0	179	234				
BTBD10	84280	broad.mit.edu	37	11	13410595	13410595	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:13410595G>T	uc001mkz.2	-	9	1468	c.1211C>A	c.(1210-1212)TCC>TAC	p.S404Y	BTBD10_uc010rcl.1_Missense_Mutation_p.S412Y|BTBD10_uc001mla.2_Missense_Mutation_p.S388Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S356Y	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	404						nucleus					0				Epithelial(150;0.0214)		CTTCTCCCAGGACATTCGAAT	0.448		NaN											1	0	1.7489e-18	0.011902	1.87704e-18	43	105				
TPH1	7166	broad.mit.edu	37	11	18048081	18048081	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:18048081A>C	uc001mnp.2	-	6	785	c.759T>G	c.(757-759)ACT>ACG	p.T253T	TPH1_uc009yhe.2_RNA	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	253					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCACATATTGAGTGCAGTGAA	0.413		NaN											0	0	0	0.009718	0	43	50				
OR8J1	219477	broad.mit.edu	37	11	56127857	56127857	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:56127857C>T	uc010rjh.1	+	1	135	c.135C>T	c.(133-135)ATC>ATT	p.I45I		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACCTGGGCATCATCACCCTCA	0.498		NaN											0	0	0	0.01441	0	58	81				
OR9Q1	219956	broad.mit.edu	37	11	57947216	57947216	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:57947216G>A	uc001nmj.2	+	3	616	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				GTGCTGCTCAGTTCTTTCTGT	0.532		NaN											0	0	0	0.01441	0	53	79				
MS4A6E	245802	broad.mit.edu	37	11	60105401	60105401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:60105401G>A	uc001npd.2	+	2	349	c.335G>A	c.(334-336)AGA>AAA	p.R112K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	112	Extracellular (Potential).					integral to membrane	receptor activity				0						GACTGCCATAGAGCCAAAGCC	0.373		NaN											0	0	0	0.013726	0	36	56				
AHNAK	79026	broad.mit.edu	37	11	62301534	62301534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62301534C>A	uc001ntl.2	-	5	655	c.355G>T	c.(355-357)GAG>TAG	p.E119*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	119					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGTACTCCTCATCATCCCCG	0.602		NaN											1	0	3.86212e-05	0.008291	3.96452e-05	11	22				
TAF6L	10629	broad.mit.edu	37	11	62553845	62553845	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62553845C>T	uc001nvc.2	+	10	1175	c.1074C>T	c.(1072-1074)GTC>GTT	p.V358V	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	358					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						GACACAAAGTCTATGGAGCCA	0.512		NaN									OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	27	123				
MRPL48	51642	broad.mit.edu	37	11	73498985	73498985	+	Translation_Start_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73498985T>A	uc001ouh.3	+	1	69	c.-31T>A	c.(-33--29)GTTTG>GTATG		MRPL48_uc009ytt.2_Translation_Start_Site|MRPL48_uc010rri.1_Translation_Start_Site|MRPL48_uc009ytu.2_Translation_Start_Site	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor						translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						GGTCTTCGGTTTGCACAGCTA	0.612		NaN											0	0	0	0.016723	0	13	16				
DNAJB13	374407	broad.mit.edu	37	11	73681096	73681096	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73681096C>T	uc001ouo.2	+	8	1639	c.888C>T	c.(886-888)ATC>ATT	p.I296I		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	296					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					TCTTCGACATCCAGTTCCCCA	0.577		NaN											0	0	0	0.007291	0	29	150				
POLD3	10714	broad.mit.edu	37	11	74323962	74323962	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:74323962T>C	uc001ovf.1	+	5	374	c.299T>C	c.(298-300)GTG>GCG	p.V100A	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	100					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					AGCATCCATGTGTACAGCATC	0.453		NaN											0	0	0	0.01441	0	60	74				
TRPC6	7225	broad.mit.edu	37	11	101359784	101359784	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:101359784C>G	uc001pgk.3	-	4	1602	c.1177G>C	c.(1177-1179)GAG>CAG	p.E393Q	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	393	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAAGATTCTCATACCAAATG	0.433		NaN											0	0	0	0.003954	0	25	40				
PPP2R1B	5519	broad.mit.edu	37	11	111636068	111636068	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111636068A>G	uc001plx.1	-	2	239	c.155T>C	c.(154-156)CTA>CCA	p.L52P	PPP2R1B_uc001plw.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.L52P	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	52	HEAT 1.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCCAAGTGCTAGGGCAATTGT	0.363		NaN											0	0	0	0.01441	0	48	92				
FDXACB1	91893	broad.mit.edu	37	11	111749797	111749797	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111749797C>T	uc001pmc.3	-	1	357	c.60G>A	c.(58-60)CTG>CTA	p.L20L	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	20					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GGGTTTCGCTCAGAGCGGCGG	0.667		NaN									OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	34				
MLL	4297	broad.mit.edu	37	11	118374637	118374637	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:118374637C>G	uc001pta.2	+	27	8044	c.8021C>G	c.(8020-8022)TCA>TGA	p.S2674*	MLL_uc001ptb.2_Nonsense_Mutation_p.S2677*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2674					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTAAGCACTTCAGATGAAGAC	0.463		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.004656	0	26	37		Valid		
B4GALNT3	283358	broad.mit.edu	37	12	569632	569632	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:569632C>A	uc001qii.1	+	1	90	c.90C>A	c.(88-90)GCC>GCA	p.A30A		NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	30	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGCGCTCGCCGTGGTGTCTG	0.542		NaN											1	0	0.000602214	0.014758	0.000611236	3	5				
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:4702231C>T	uc001qmx.2	+	4	342	c.182C>T	c.(181-183)GCG>GTG	p.A61V	DYRK4_uc009zeh.1_Missense_Mutation_p.A176V|DYRK4_uc001qmy.1_Missense_Mutation_p.A61V	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	61						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458		NaN											0	0	0	0.007291	0	29	101				
NCAPD2	9918	broad.mit.edu	37	12	6637881	6637881	+	Silent	SNP	G	G	A	rs149244253	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:6637881G>A	uc001qoo.2	+	26	3382	c.3336G>A	c.(3334-3336)GCG>GCA	p.A1112A	NCAPD2_uc010sfd.1_Silent_p.A1067A	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1112					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GGAAAACAGCGGGGCTGGTGA	0.597		NaN											0	0	0	0.00308	0	8	68				
PTPN6	5777	broad.mit.edu	37	12	7064630	7064630	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:7064630C>T	uc001qsb.2	+	6	971	c.729C>T	c.(727-729)GGC>GGT	p.G243G	PTPN6_uc001qsa.1_Silent_p.G245G|PTPN6_uc010sfr.1_Silent_p.G204G|PTPN6_uc009zfl.1_Silent_p.G243G|PTPN6_uc010sfs.1_Silent_p.G231G	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	243					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						CCAAGGCTGGCTTCTGGGAGG	0.632		NaN											0	0	0	0.006122	0	19	109				
C12orf36	283422	broad.mit.edu	37	12	13526188	13526188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:13526188C>G	uc001rbs.1	-	3	585	c.367G>C	c.(367-369)GAG>CAG	p.E123Q		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)		ACATCTTCCTCAATTTTCTGC	0.408		NaN											0	0	0	0.013726	0	30	95				
C12orf77	196415	broad.mit.edu	37	12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:25149195G>C	uc001rgf.2	-	2	287	c.82C>G	c.(82-84)CAA>GAA	p.Q28E		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	28											0						TCCAGAATTTGAATATTATTT	0.443		NaN											0	0	0	0.00245	0	14	71				
TMTC1	83857	broad.mit.edu	37	12	29786270	29786270	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:29786270C>A	uc001rjb.2	-	6	1089	c.615_splice	c.e6-1	p.R205_splice	TMTC1_uc001riz.2_Splice_Site|TMTC1_uc001rja.2_Splice_Site_p.R49_splice|TMTC1_uc001rjc.1_Splice_Site_p.R267_splice	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat							integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTGAGGAATCTATAAAGAGA	0.443		NaN											1	0	1.96292e-10	0.010504	2.06183e-10	22	35				
LRRK2	120892	broad.mit.edu	37	12	40687375	40687375	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40687375G>C	uc001rmg.3	+	21	2839	c.2718G>C	c.(2716-2718)AAG>AAC	p.K906N	LRRK2_uc001rmh.1_Missense_Mutation_p.K528N|LRRK2_uc009zjw.2_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	906					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTGAAAAAGAAATCTAATT	0.323		NaN											0	0	0	0.003163	0	15	12				
LRRK2	120892	broad.mit.edu	37	12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40728880C>T	uc001rmg.3	+	40	5990	c.5869C>T	c.(5869-5871)CGC>TGC	p.R1957C	LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1957C(1)|p.R1964C(1)		ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527		NaN											0	0	0	0.00499	0	16	53				
CNTN1	1272	broad.mit.edu	37	12	41337465	41337465	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:41337465T>C	uc001rmm.1	+	13	1559	c.1446T>C	c.(1444-1446)TAT>TAC	p.Y482Y	CNTN1_uc009zjy.1_Silent_p.Y482Y|CNTN1_uc001rmn.1_Silent_p.Y471Y|CNTN1_uc001rmo.2_Silent_p.Y482Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	482	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGTATCTATACATGCTTTG	0.333		NaN											0	0	0	0.012319	0	18	55				
SLC38A2	54407	broad.mit.edu	37	12	46757568	46757568	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:46757568A>C	uc001rpg.2	-	12	1435	c.995T>G	c.(994-996)TTT>TGT	p.F332C	SLC38A2_uc010sli.1_Missense_Mutation_p.F170C|SLC38A2_uc001rph.2_Missense_Mutation_p.F232C	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	332	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATAGCAAAAAATGAAATCTT	0.343		NaN											0	0	0	0.01892	0	25	28				
C1QL4	338761	broad.mit.edu	37	12	49726986	49726986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:49726986C>G	uc001rtz.1	-	2	1279	c.568G>C	c.(568-570)GAC>CAC	p.D190H		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	190	C1q.					collagen					0						TAGTTCTGGTCCGCGTCCTGA	0.637		NaN											0	0	0	0.013537	0	11	24				
LIMA1	51474	broad.mit.edu	37	12	50571654	50571654	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:50571654T>A	uc001rwj.3	-	11	1647	c.1473A>T	c.(1471-1473)CCA>CCT	p.P491P	LIMA1_uc001rwg.3_Silent_p.P189P|LIMA1_uc001rwh.3_Silent_p.P330P|LIMA1_uc001rwi.3_Silent_p.P332P|LIMA1_uc001rwk.3_Silent_p.P492P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	491				P -> Q (in Ref. 2; AAF67491).	actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						CTTCTACCCCTGGGCTGTGAG	0.522		NaN											0	0	0	0.013726	0	33	107				
DIP2B	57609	broad.mit.edu	37	12	51065124	51065124	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:51065124G>A	uc001rwv.2	+	5	739	c.583G>A	c.(583-585)GGA>AGA	p.G195R	DIP2B_uc001rwu.2_Missense_Mutation_p.G195R|DIP2B_uc009zls.1_Missense_Mutation_p.G77R	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	195	Ser-rich.					nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTGTCCCACGGAGAGGTCAA	0.483		NaN											0	0	0	0.01441	0	60	43				
SCN8A	6334	broad.mit.edu	37	12	52115497	52115497	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:52115497C>G	uc001ryw.2	+	12	1981	c.1803C>G	c.(1801-1803)CTC>CTG	p.L601L	SCN8A_uc010snl.1_Silent_p.L466L|SCN8A_uc001ryx.1_Silent_p.L466L|SCN8A_uc001ryz.1_Silent_p.L466L|SCN8A_uc001ryy.2_Silent_p.L466L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	601					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGACTCCCTCTTCATCCCCA	0.622		NaN											0	0	0	0.014758	0	5	11				
PA2G4	5036	broad.mit.edu	37	12	56500804	56500804	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:56500804A>G	uc001sjm.2	+	3	667	c.248A>G	c.(247-249)AAT>AGT	p.N83S	PA2G4_uc009zol.2_Missense_Mutation_p.N83S|PA2G4_uc009zom.2_Missense_Mutation_p.N83S	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	83					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATTTCGGTAAATAACTGTGTA	0.428		NaN											0	0	0	0.00632	0	29	69				
PIP4K2C	79837	broad.mit.edu	37	12	57992965	57992965	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:57992965C>T	uc001sou.2	+	5	762	c.631C>T	c.(631-633)CTT>TTT	p.L211F	PIP4K2C_uc001sot.2_Missense_Mutation_p.L211F|PIP4K2C_uc010srs.1_Missense_Mutation_p.L193F|PIP4K2C_uc010srt.1_Missense_Mutation_p.L163F	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	211	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					TAGCCACCGTCTTCCTGTGCA	0.537		NaN											0	0	0	0.006122	0	18	36				
SLC16A7	9194	broad.mit.edu	37	12	60168667	60168667	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:60168667C>G	uc001sqs.2	+	5	890	c.591C>G	c.(589-591)CCC>CCG	p.P197P	SLC16A7_uc001sqt.2_Silent_p.P197P|SLC16A7_uc001squ.2_Silent_p.P197P|SLC16A7_uc009zqi.2_Silent_p.P98P|SLC16A7_uc010ssi.1_Silent_p.P98P	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	197	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCATGAGACCCCTTGGACCCA	0.403		NaN											0	0	0	0.008361	0	30	18				
GRIP1	23426	broad.mit.edu	37	12	66932910	66932910	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:66932910C>G	uc001stk.2	-	4	607	c.366G>C	c.(364-366)AAG>AAC	p.K122N	GRIP1_uc010sta.1_Missense_Mutation_p.K66N|GRIP1_uc001stl.1_Missense_Mutation_p.K66N|GRIP1_uc001stm.2_Missense_Mutation_p.K122N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	122	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCCACATTCTTCAGCAAGC	0.378		NaN											0	0	0	0.004482	0	6	117				
NTN4	59277	broad.mit.edu	37	12	96077360	96077360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:96077360C>T	uc001tei.2	-	6	1757	c.1308G>A	c.(1306-1308)GTG>GTA	p.V436V	NTN4_uc009ztf.2_Silent_p.V436V|NTN4_uc009ztg.2_Silent_p.V399V	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	436	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCCAGTATCCCACCATGCACC	0.597		NaN											0	0	0	0.013537	0	12	30				
C12orf63	374467	broad.mit.edu	37	12	97114276	97114276	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:97114276G>C	uc001tet.1	+	17	2251	c.2173G>C	c.(2173-2175)GAG>CAG	p.E725Q		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	725										skin(6)|ovary(1)	7						TGGCGAGCTGGAGATTGTGGT	0.587		NaN											0	0	0	0.014758	0	5	10				
ANKS1B	56899	broad.mit.edu	37	12	100377945	100377945	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:100377945G>T	uc001tge.1	-	1	488	c.71C>A	c.(70-72)TCT>TAT	p.S24Y	ANKS1B_uc001tgf.1_Translation_Start_Site|ANKS1B_uc009ztt.1_Missense_Mutation_p.S24Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	24	ANK 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTCCTGCCAGACAGGAGTTT	0.612		NaN											1	0	0.000602214	0.014758	0.000611236	5	16				
UTP20	27340	broad.mit.edu	37	12	101685532	101685532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:101685532G>A	uc001tia.1	+	9	1060	c.904G>A	c.(904-906)GAT>AAT	p.D302N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	302					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ATCGCTCTTGGATCTACACAC	0.328		NaN											0	0	0	0.006214	0	8	20				
UBE3B	89910	broad.mit.edu	37	12	109935699	109935699	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:109935699G>A	uc001top.2	+	10	1393	c.790G>A	c.(790-792)GTG>ATG	p.V264M	UBE3B_uc001toq.2_Missense_Mutation_p.V264M|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.V264M	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GCCTGCTCTGGTGACTCATCT	0.468		NaN											0	0	0	0.014323	0	23	46				
IFT81	28981	broad.mit.edu	37	12	110643430	110643430	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110643430G>C	uc001tqi.2	+	17	1877	c.1747G>C	c.(1747-1749)GAT>CAT	p.D583H	IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	583	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TCGTGCTACTGATGAGATGAA	0.313		NaN											0	0	0	0.009535	0	32	75				
RAD9B	144715	broad.mit.edu	37	12	110956514	110956514	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110956514T>C	uc001trf.3	+	7	767	c.629T>C	c.(628-630)GTT>GCT	p.V210A	RAD9B_uc001trg.3_Missense_Mutation_p.V210A|RAD9B_uc010sya.1_Missense_Mutation_p.V141A|RAD9B_uc001tre.3_Missense_Mutation_p.V138A|RAD9B_uc001trd.3_Missense_Mutation_p.V52A	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B	207					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						GAGATGTTTGTTGGCTCAGAT	0.289		NaN											0	0	0	0.006214	0	10	23				
RNF10	9921	broad.mit.edu	37	12	120995374	120995374	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:120995374T>C	uc001typ.3	+	6	1339	c.856T>C	c.(856-858)TAT>CAT	p.Y286H	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.Y192H	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	286					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCACATCAGTATGTTGTTGG	0.448		NaN											0	0	0	0.005524	0	38	77				
TMEM120B	144404	broad.mit.edu	37	12	122213008	122213008	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122213008C>G	uc001ubc.3	+	11	1022	c.878C>G	c.(877-879)TCC>TGC	p.S293C	TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	293						integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTTGAGCTCTCCAGCCACGAG	0.517		NaN											0	0	0	0.016723	0	12	14				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493		NaN											0	0	0	0.00874	0	17	120				
MPHOSPH9	10198	broad.mit.edu	37	12	123645694	123645694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645694C>G	uc001uel.2	-	18	3021	c.2914G>C	c.(2914-2916)GAA>CAA	p.E972Q	MPHOSPH9_uc010tal.1_Missense_Mutation_p.E426Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E426Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	972	Potential.				M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGTCCTTTTCTTTTGTAAGT	0.343		NaN											0	0	0	0.004007	0	16	34				
MPHOSPH9	10198	broad.mit.edu	37	12	123645916	123645916	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645916C>T	uc001uel.2	-	18	2799	c.2692G>A	c.(2692-2694)GAG>AAG	p.E898K	MPHOSPH9_uc010tal.1_Missense_Mutation_p.E352K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E352K	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	898					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGCTTTCTCAGAATAAGTT	0.373		NaN											0	0	0	0.004656	0	24	69				
MPHOSPH9	10198	broad.mit.edu	37	12	123645931	123645931	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645931C>G	uc001uel.2	-	18	2785	c.2678_splice	c.e18-1	p.E893_splice	MPHOSPH9_uc010tal.1_Splice_Site_p.E347_splice|MPHOSPH9_uc010tam.1_Splice_Site|MPHOSPH9_uc001uem.2_Splice_Site_p.E347_splice	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAGTTTTTTCTGTCAGAGAG	0.368		NaN											0	0	0	0.003954	0	23	61				
CENPJ	55835	broad.mit.edu	37	13	25484207	25484207	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:25484207C>T	uc001upt.3	-	4	839	c.586G>A	c.(586-588)GAT>AAT	p.D196N	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	196					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTGATCATCAGGCAGTAAA	0.478		NaN											0	0	0	0.01441	0	50	59				
LPAR6	10161	broad.mit.edu	37	13	48985570	48985570	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:48985570T>C	uc010acu.2	-	1	2084	c.990A>G	c.(988-990)CTA>CTG	p.L330L	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.L330L|LPAR6_uc001vcf.2_Silent_p.L330L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						TTAAGGTCTGTAGGTTATGCT	0.358		NaN											0	0	0	0.01441	0	66	22				
PCDH9	5101	broad.mit.edu	37	13	67799881	67799881	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67799881C>T	uc001vik.2	-	2	3384	c.2692G>A	c.(2692-2694)GAA>AAA	p.E898K	PCDH9_uc001vil.2_Missense_Mutation_p.E898K|PCDH9_uc010thl.1_Missense_Mutation_p.E898K|PCDH9_uc001vin.3_Missense_Mutation_p.E898K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	898	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATAGGTTCATGAACTGCA	0.438		NaN											0	0	0	0.01441	0	82	113				
PCDH9	5101	broad.mit.edu	37	13	67800603	67800603	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67800603G>C	uc001vik.2	-	2	2662	c.1970C>G	c.(1969-1971)TCT>TGT	p.S657C	PCDH9_uc001vil.2_Missense_Mutation_p.S657C|PCDH9_uc010thl.1_Missense_Mutation_p.S657C|PCDH9_uc001vin.3_Missense_Mutation_p.S657C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	657	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTGCAGTAGAGGAACGAGG	0.438		NaN											0	0	0	0.006999	0	41	137				
SLITRK1	114798	broad.mit.edu	37	13	84455102	84455102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:84455102G>A	uc001vlk.2	-	1	1427	c.541C>T	c.(541-543)CAC>TAC	p.H181Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	181	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGTCGAGGTGGGTGATGGGC	0.537		NaN											0	0	0	0.01441	0	55	97				
GPC5	2262	broad.mit.edu	37	13	92345689	92345689	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:92345689G>A	uc010tif.1	+	3	940	c.574G>A	c.(574-576)GAA>AAA	p.E192K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	192						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAATACTCAGAATGCATCCG	0.483		NaN											0	0	0	0.01441	0	57	111				
FARP1	10160	broad.mit.edu	37	13	99083499	99083499	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:99083499A>C	uc001vnj.2	+	18	2444	c.2108A>C	c.(2107-2109)CAC>CCC	p.H703P	FARP1_uc001vnh.2_Missense_Mutation_p.H703P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	703	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACACCACCCGCCGAGC	0.647		NaN											0	0	0	0.006214	0	4	10				
ZIC2	7546	broad.mit.edu	37	13	100634397	100634397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:100634397G>A	uc001von.2	+	1	79	c.79G>A	c.(79-81)GCG>ACG	p.A27T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	27	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTccgccgcggcggcggcggc	0.612		NaN											0	0	0	0.014758	0	4	4				
MYO16	23026	broad.mit.edu	37	13	109858981	109858981	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:109858981G>C	uc001vqt.1	+	35	5500	c.5374G>C	c.(5374-5376)GAG>CAG	p.E1792Q	MYO16_uc010agk.1_Missense_Mutation_p.E1814Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1792					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGGCTCTCAGAGAATGAAAG	0.512		NaN											0	0	0	0.00499	0	18	100				
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:110434606T>G	uc001vqv.2	-	1	4309	c.3795A>C	c.(3793-3795)CCA>CCC	p.P1265P		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.512		NaN											0	0	0	0.007413	0	11	24				
ARHGAP5	394	broad.mit.edu	37	14	32562753	32562753	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:32562753C>G	uc001wrl.2	+	2	3117	c.2878C>G	c.(2878-2880)CAA>GAA	p.Q960E	ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	960					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAACCCATCAAAGTGAAGA	0.358		NaN											0	0	0	0.01441	0	53	44				
INSM2	84684	broad.mit.edu	37	14	36004326	36004326	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:36004326G>C	uc001wth.1	+	1	1079	c.868G>C	c.(868-870)GAG>CAG	p.E290Q		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGTGCGCGTAGAGTACCGCTG	0.672		NaN											0	0	0	0.010504	0	21	27				
KLHL28	54813	broad.mit.edu	37	14	45414407	45414407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:45414407T>C	uc001wvq.2	-	2	971	c.725A>G	c.(724-726)CAT>CGT	p.H242R	KLHL28_uc001wvr.2_Missense_Mutation_p.H242R|KLHL28_uc001wvt.3_Missense_Mutation_p.H242R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	242										ovary(1)	1						ACGAATAAGATGATTTGCTTC	0.373		NaN											0	0	0	0.016522	0	24	66				
HSPA2	3306	broad.mit.edu	37	14	65008896	65008896	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65008896G>A	uc001xhj.2	+	2	1405	c.1329G>A	c.(1327-1329)GTG>GTA	p.V443V	HSPA2_uc001xhk.3_Silent_p.V443V	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	443					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCGTACTGGTGCAGGTATACG	0.607		NaN											0	0	0	0.013537	0	13	82				
PLEKHG3	26030	broad.mit.edu	37	14	65197646	65197646	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65197646C>G	uc001xho.1	+	6	965	c.696C>G	c.(694-696)CTC>CTG	p.L232L	PLEKHG3_uc001xhn.1_Silent_p.L176L|PLEKHG3_uc001xhp.2_Silent_p.L232L|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	232	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGCATCCTCAAGTACCACC	0.642		NaN											0	0	0	0.010504	0	21	66				
MPP5	64398	broad.mit.edu	37	14	67787792	67787792	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:67787792G>A	uc001xjc.2	+	13	2022	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	MPP5_uc001xjd.2_Missense_Mutation_p.R485Q|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	519	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CGGAGTAGGCGAGACCAAGAA	0.448		NaN											0	0	0	0.00623	0	39	71				
GOLGA5	9950	broad.mit.edu	37	14	93273263	93273263	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:93273263C>G	uc001yaz.1	+	3	909	c.727C>G	c.(727-729)CAA>GAA	p.Q243E		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	243	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTCTTTAAATCAAGAAATGGC	0.378		NaN	T	RET	papillary thyroid								0	0	0	0.016723	0	14	70				
KIAA1409	57578	broad.mit.edu	37	14	94156520	94156520	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94156520G>A	uc001ybv.1	+	44	6878	c.6795G>A	c.(6793-6795)CTG>CTA	p.L2265L	KIAA1409_uc001ybs.1_Silent_p.L2243L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2420						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GGCTGCTGCTGGGTTCCCTCA	0.473		NaN											0	0	0	0.006999	0	41	63				
DDX24	57062	broad.mit.edu	37	14	94528602	94528602	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94528602C>T	uc001ycj.2	-	3	1183	c.1084G>A	c.(1084-1086)GAT>AAT	p.D362N	DDX24_uc010twq.1_Missense_Mutation_p.D319N|DDX24_uc010twr.1_Missense_Mutation_p.D112N	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	362	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGCTCTTTATCAAGATTTTCC	0.483		NaN											0	0	0	0.01441	0	50	105				
EML1	2009	broad.mit.edu	37	14	100380990	100380990	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:100380990T>C	uc001ygs.2	+	15	1777	c.1708T>C	c.(1708-1710)TGG>CGG	p.W570R	EML1_uc010tww.1_Missense_Mutation_p.W558R|EML1_uc001ygr.2_Missense_Mutation_p.W589R	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	570	WD 6.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCACTCTCTGGGACGCTGT	0.463		NaN											0	0	0	0.00499	0	18	36				
CDC42BPB	9578	broad.mit.edu	37	14	103465928	103465928	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:103465928G>A	uc001ymi.1	-	5	802	c.570C>T	c.(568-570)TCC>TCT	p.S190S		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	190	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTGATGGATGGAGTCAATGG	0.448		NaN											0	0	0	0.01441	0	54	85				
XRCC3	7517	broad.mit.edu	37	14	104165252	104165252	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:104165252G>A	uc001yny.3	-	10	1304	c.924C>T	c.(922-924)CTC>CTT	p.L308L	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L308L|XRCC3_uc001ynz.3_Silent_p.L308L|XRCC3_uc001yoa.3_Silent_p.L308L	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	308					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGGCAGCCGAGGGCAGCCT	0.672		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.001984	0	7	5				
KIAA0284	283638	broad.mit.edu	37	14	105360120	105360120	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105360120T>C	uc010axb.2	+	16	4429	c.4205T>C	c.(4204-4206)CTG>CCG	p.L1402P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1332P|KIAA0284_uc001yps.2_Missense_Mutation_p.L1343P|KIAA0284_uc001ypt.2_Missense_Mutation_p.L70P	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1437						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AACCTGATGCTGAACCCGGTG	0.657		NaN											0	0	0	0.006214	0	10	12				
CDCA4	55038	broad.mit.edu	37	14	105477759	105477759	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105477759C>G	uc001yqa.2	-	2	604	c.508G>C	c.(508-510)GAG>CAG	p.E170Q	CDCA4_uc001yqb.2_Missense_Mutation_p.E170Q	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	170						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TTTTTAGTCTCCAGCGTTTCA	0.547		NaN											0	0	0	0.004482	0	7	70				
BRF1	2972	broad.mit.edu	37	14	105685546	105685546	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105685546G>C	uc001yqp.2	-	13	1764	c.1401C>G	c.(1399-1401)GCC>GCG	p.A467A	BRF1_uc010tyo.1_Silent_p.A352A|BRF1_uc010typ.1_Silent_p.A374A|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.A263A|BRF1_uc001yqo.2_Silent_p.A229A|BRF1_uc010axg.1_Silent_p.A440A|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	467					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTCACGCGGGCTTCCGACT	0.647		NaN											0	0	0	0.015359	0	32	57				
APBA2	321	broad.mit.edu	37	15	29400577	29400577	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:29400577C>T	uc001zck.2	+	12	2229	c.2022C>T	c.(2020-2022)AGC>AGT	p.S674S	APBA2_uc010azj.2_Silent_p.S662S|APBA2_uc010uat.1_Silent_p.S662S|APBA2_uc001zcl.2_Silent_p.S662S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	674	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGGCTTCAGCGTGCAGAATG	0.607		NaN											0	0	0	0.00632	0	27	90				
FSIP1	161835	broad.mit.edu	37	15	39910077	39910077	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:39910077C>T	uc001zki.2	-	11	1776	c.1558G>A	c.(1558-1560)GAC>AAC	p.D520N		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	520										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATAAAATAGTCTTTTGTGTCA	0.408		NaN											0	0	0	0.01441	0	55	52				
EIF2AK4	440275	broad.mit.edu	37	15	40268620	40268620	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:40268620G>A	uc001zkm.1	+	12	1874	c.1824G>A	c.(1822-1824)CAG>CAA	p.Q608Q	EIF2AK4_uc010bbj.1_Silent_p.Q337Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	608	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CGCAGGTGCAGAACAAGTTGG	0.617		NaN											0	0	0	0.012319	0	22	20				
INO80	54617	broad.mit.edu	37	15	41319809	41319809	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:41319809A>G	uc001zni.2	-	25	3246	c.3033T>C	c.(3031-3033)TGT>TGC	p.C1011C	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1011	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GACTGGCCACACACAAAAAAG	0.473		NaN											0	0	0	0.016723	0	13	37				
MGA	23269	broad.mit.edu	37	15	42003336	42003336	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42003336C>G	uc001zog.1	+	8	2964	c.2873C>G	c.(2872-2874)ACT>AGT	p.T958S	MGA_uc010ucy.1_Missense_Mutation_p.T958S|MGA_uc010ucz.1_Missense_Mutation_p.T958S	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	958						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTGTGCCAACTTTGGATGAA	0.433		NaN											0	0	0	0.004656	0	25	101				
PLA2G4D	283748	broad.mit.edu	37	15	42374548	42374548	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42374548C>T	uc001zox.2	-	9	807	c.712G>A	c.(712-714)GGG>AGG	p.G238R		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	238					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTGAGGTACCCAGCTGAGTTG	0.448		NaN											0	0	0	0.007413	0	17	47				
ELL3	80237	broad.mit.edu	37	15	44067580	44067580	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:44067580C>T	uc001zsw.1	-	6	973	c.570_splice	c.e6-1	p.R190_splice	ELL3_uc001zsv.1_Splice_Site_p.R144_splice|ELL3_uc001zsx.1_Splice_Site_p.R75_splice|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTGGCTTCTAGGATATTT	0.458		NaN									OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	15	18				
SEMA6D	80031	broad.mit.edu	37	15	48063558	48063558	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:48063558C>T	uc010bek.2	+	19	3158	c.2798C>T	c.(2797-2799)CCT>CTT	p.P933L	SEMA6D_uc001zvw.2_Missense_Mutation_p.P871L|SEMA6D_uc001zvy.2_Missense_Mutation_p.P933L|SEMA6D_uc001zvz.2_Missense_Mutation_p.P877L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P871L|SEMA6D_uc001zwc.2_Missense_Mutation_p.P858L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	933	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACTCCCCTCCTTCAACTCTC	0.517		NaN											0	0	0	0.01441	0	48	127				
ONECUT1	3175	broad.mit.edu	37	15	53081358	53081358	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:53081358C>A	uc002aci.1	-	1	852	c.724G>T	c.(724-726)GTG>TTG	p.V242L		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	242					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTGATGGGCACCATGCCGGCC	0.706		NaN											1	0	4.25531e-23	0.01441	4.64996e-23	54	50				
DPP8	54878	broad.mit.edu	37	15	65782623	65782623	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:65782623C>G	uc002aov.2	-	6	2356	c.778G>C	c.(778-780)GAA>CAA	p.E260Q	DPP8_uc002aow.2_Missense_Mutation_p.E260Q|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E244Q|DPP8_uc002aoy.2_Missense_Mutation_p.E260Q|DPP8_uc002aoz.2_Missense_Mutation_p.E244Q|DPP8_uc010bhj.2_Missense_Mutation_p.E260Q|DPP8_uc002apa.2_Missense_Mutation_p.E157Q|DPP8_uc010bhk.1_Missense_Mutation_p.E2Q	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	260					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						GCATCTTCTTCCATGTTGGCT	0.353		NaN											0	0	0	0.008291	0	11	54				
DIS3L	115752	broad.mit.edu	37	15	66587330	66587330	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587330G>A	uc010ujm.1	+	2	159	c.144G>A	c.(142-144)GGG>GGA	p.G48G	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Silent_p.G48G|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	48					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						TTTCAGATGGGAAACTCTTGT	0.368		NaN											0	0	0	0.016723	0	14	25				
DIS3L	115752	broad.mit.edu	37	15	66587451	66587451	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587451C>G	uc010ujm.1	+	2	280	c.265C>G	c.(265-267)CAA>GAA	p.Q89E	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q6E|DIS3L_uc002apq.2_Missense_Mutation_p.Q89E|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	89					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GACAGCTTGTCAAGCTGTGCA	0.433		NaN											0	0	0	0.007291	0	28	68				
HCN4	10021	broad.mit.edu	37	15	73615332	73615332	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:73615332G>A	uc002avp.2	-	8	4096	c.3102C>T	c.(3100-3102)CCC>CCT	p.P1034P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1034	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		AGGTTCTTGGGGGGCCTGGGC	0.721		NaN											0	0	0	0.004672	0	3	3				
ARID3B	10620	broad.mit.edu	37	15	74836783	74836783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74836783C>T	uc002aye.2	+	2	707	c.506C>T	c.(505-507)TCC>TTC	p.S169F	ARID3B_uc002ayc.2_Missense_Mutation_p.S169F|ARID3B_uc002ayd.2_Missense_Mutation_p.S169F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCTTCTGTCTCCACAGCAGGA	0.522		NaN											0	0	0	0.013537	0	11	30				
C15orf39	56905	broad.mit.edu	37	15	75498410	75498410	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:75498410G>A	uc002azp.3	+	2	341	c.21G>A	c.(19-21)CTG>CTA	p.L7L	C15orf39_uc002azq.3_Silent_p.L7L|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	7											0						AGCGACCCCTGAGAACCCTGG	0.602		NaN											0	0	0	0.008291	0	11	8				
ADAMTSL3	57188	broad.mit.edu	37	15	84539658	84539658	+	Missense_Mutation	SNP	G	G	A	rs139499552	by1000genomes	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:84539658G>A	uc002bjz.3	+	9	1131	c.907G>A	c.(907-909)GAG>AAG	p.E303K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E303K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E303K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	303						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGGCTCCGAGAGGCAAAC	0.438		NaN											0	0	0	0.01441	0	55	42				
HBA2	3040	broad.mit.edu	37	16	227392	227392	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:227392G>A	uc002cfw.2	+	3	477	c.411G>A	c.(409-411)CTG>CTA	p.L137L	HBA1_uc002cfx.1_Silent_p.L137L|HBA1_uc002cfy.1_Silent_p.L105L|HBQ1_uc002cfz.2_5'Flank	NM_000558	NP_000549	P69905	HBA_HUMAN	alpha 1 globin	137			L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> M (in Chicago).|L -> R (in Toyama).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GCACCGTGCTGACCTCCAAAT	0.672		NaN									OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.00308	0	8	10				
RHBDL1	9028	broad.mit.edu	37	16	726418	726418	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:726418C>T	uc002cis.1	+	1	344	c.317C>T	c.(316-318)CCG>CTG	p.P106L	RHBDL1_uc002cir.1_Missense_Mutation_p.P41L|RHBDL1_uc010uun.1_Missense_Mutation_p.P41L	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	106					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				CCCCTGGACCCGGCCAAGCTG	0.667		NaN											0	0	0	0.014758	0	5	4				
MAPK8IP3	23162	broad.mit.edu	37	16	1817831	1817831	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:1817831C>T	uc002cmk.2	+	28	3552	c.3432C>T	c.(3430-3432)TTC>TTT	p.F1144F	MAPK8IP3_uc002cml.2_Silent_p.F1138F|MAPK8IP3_uc010uvl.1_Silent_p.F1145F	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1144					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GTTTCTCCTTCGTACGCATCA	0.667		NaN											0	0	0	0.004672	0	3	44				
CREBBP	1387	broad.mit.edu	37	16	3807879	3807879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:3807879C>G	uc002cvv.2	-	18	3744	c.3540G>C	c.(3538-3540)AAG>AAC	p.K1180N	CREBBP_uc002cvw.2_Missense_Mutation_p.K1142N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1180					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCTGCAAGCTTACTGCAAA	0.473		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.016522	0	24	18		Valid		
GRIN2A	2903	broad.mit.edu	37	16	9923389	9923389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:9923389A>G	uc002czo.3	-	9	2446	c.1898T>C	c.(1897-1899)GTA>GCA	p.V633A	GRIN2A_uc010uym.1_Missense_Mutation_p.V633A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V476A|GRIN2A_uc002czr.3_Missense_Mutation_p.V633A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	633	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGGCCCATACAGATACCAT	0.493		NaN											0	0	0	0.010771	0	46	16				
CLEC16A	23274	broad.mit.edu	37	16	11051690	11051690	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:11051690G>A	uc002dao.2	+	2	362	c.132G>A	c.(130-132)CGG>CGA	p.R44R	CLEC16A_uc002dan.3_Silent_p.R44R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	44										ovary(1)|central_nervous_system(1)	2						AACAGAACCGGAACCTGCTAG	0.428		NaN											0	0	0	0.00623	0	38	26				
RBBP6	5930	broad.mit.edu	37	16	24578652	24578652	+	Missense_Mutation	SNP	C	C	T	rs144821029		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:24578652C>T	uc002dmh.2	+	15	2818	c.1778C>T	c.(1777-1779)CCA>CTA	p.P593L	RBBP6_uc010vcb.1_Missense_Mutation_p.P460L|RBBP6_uc002dmi.2_Missense_Mutation_p.P593L|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P460L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	593					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGCCAGCCACCACCCGCTGGG	0.299		NaN											0	0	0	0.01441	0	145	65				
NSMCE1	197370	broad.mit.edu	37	16	27246541	27246541	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:27246541C>T	uc002doi.1	-	3	314	c.216G>A	c.(214-216)AAG>AAA	p.K72K	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	72					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						TGACTCCTCTCTTTATCTCAA	0.478		NaN									OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.012213	0	34	15				
ZNF423	23090	broad.mit.edu	37	16	49672418	49672418	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:49672418G>A	uc002efs.2	-	5	943	c.645C>T	c.(643-645)ACC>ACT	p.T215T	ZNF423_uc010vgn.1_Silent_p.T98T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592		NaN											0	0	0	0.01892	0	24	7				
SLC12A3	6559	broad.mit.edu	37	16	56906306	56906306	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:56906306A>G	uc010ccm.2	+	7	925	c.896A>G	c.(895-897)AAC>AGC	p.N299S	SLC12A3_uc002ekd.3_Missense_Mutation_p.N299S|SLC12A3_uc010ccn.2_Missense_Mutation_p.N298S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	299	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTTTGCCAACTATTTAGTG	0.557		NaN											0	0	0	0.00499	0	16	10				
CNGB1	1258	broad.mit.edu	37	16	57949211	57949211	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:57949211T>C	uc002emt.2	-	23	2311	c.2246A>G	c.(2245-2247)GAT>GGT	p.D749G	CNGB1_uc010cdh.2_Missense_Mutation_p.D743G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	749	Helical; Name=H3; (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ATAGAGAAAATCCAAGGGCAG	0.587		NaN											0	0	0	0.004656	0	17	12				
DPEP3	64180	broad.mit.edu	37	16	68009695	68009695	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:68009695G>A	uc002evc.3	-	10	1609	c.1515C>T	c.(1513-1515)ATC>ATT	p.I505I	DPEP3_uc010cex.2_Silent_p.I504I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	480					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGAAGGTTGGGATGGTGGCAG	0.582		NaN											0	0	0	0.010729	0	12	3				
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:89789220G>A	uc002fos.3	+	2	584	c.487G>A	c.(487-489)GGT>AGT	p.G163S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592		NaN											0	0	0	0.007291	0	31	23				
DEF8	54849	broad.mit.edu	37	16	90015915	90015915	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:90015915G>A	uc002fpn.1	+	2	131	c.42G>A	c.(40-42)GCG>GCA	p.A14A	DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	14					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCTGGCAGGCGATGCAGGTAT	0.662		NaN											0	0	0	0.012319	0	21	24				
PFN1	5216	broad.mit.edu	37	17	4849962	4849962	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:4849962C>T	uc002gaa.2	-	2	422	c.286G>A	c.(286-288)GCC>ACC	p.A96T	PFN1_uc002fzz.2_Missense_Mutation_p.A60T	NM_005022	NP_005013	P07737	PROF1_HUMAN	profilin 1	96					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding				0						AAGGTGGGGGCCCCACCGGTG	0.532		NaN											0	0	0	0.016522	0	23	87				
NLRP1	22861	broad.mit.edu	37	17	5445293	5445293	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:5445293C>T	uc002gci.2	-	6	3138	c.2583G>A	c.(2581-2583)CTG>CTA	p.L861L	NLRP1_uc002gcg.1_Silent_p.L861L|NLRP1_uc002gck.2_Silent_p.L861L|NLRP1_uc002gcj.2_Silent_p.L861L|NLRP1_uc002gcl.2_Silent_p.L861L|NLRP1_uc002gch.3_Silent_p.L861L|NLRP1_uc010clh.2_Silent_p.L861L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	861					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GGTTGGCTCTCAGCCCAAAGG	0.572		NaN											0	0	0	0.001984	0	7	22				
DLG4	1742	broad.mit.edu	37	17	7094036	7094036	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7094036C>G	uc002get.3	-	22	3496	c.2295G>C	c.(2293-2295)GAG>GAC	p.E765D	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E662D|DLG4_uc010cly.2_Missense_Mutation_p.E719D|DLG4_uc010vto.1_Missense_Mutation_p.E762D	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	722					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						ATCAGAGTCTCTCTCGGGCTG	0.617		NaN											0	0	0	0.013537	0	12	53				
MPDU1	9526	broad.mit.edu	37	17	7490058	7490058	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7490058C>T	uc002ghw.2	+	4	567	c.351C>T	c.(349-351)TGC>TGT	p.C117C	MPDU1_uc010vub.1_Silent_p.C38C|MPDU1_uc002ghx.2_Silent_p.C117C|MPDU1_uc010vuc.1_Intron	NM_004870	NP_004861	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	117	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)	1						TCACCATCTGCTTCCTGGTCA	0.557		NaN											0	0	0	0.014323	0	22	61				
PER1	5187	broad.mit.edu	37	17	8044493	8044493	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:8044493C>T	uc002gkd.2	-	23	4004	c.3766G>A	c.(3766-3768)GGC>AGC	p.G1256S	PER1_uc010cns.2_Missense_Mutation_p.G130S|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1256	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TTGGCCCCGCCTTGGGCCTCC	0.642		NaN	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					0	0	0	0.01441	0	57	156				
USP43	124739	broad.mit.edu	37	17	9604544	9604544	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:9604544C>G	uc010cod.2	+	11	1644	c.1644C>G	c.(1642-1644)TTC>TTG	p.F548L	USP43_uc002gma.3_Missense_Mutation_p.F237L|USP43_uc010vva.1_Missense_Mutation_p.F548L|USP43_uc010coe.2_Missense_Mutation_p.F345L|USP43_uc002gmc.3_Missense_Mutation_p.S25C	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	548					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GTTTTCAGTTCTACACCAAGG	0.657		NaN											0	0	0	0.014758	0	4	6				
TBC1D26	353149	broad.mit.edu	37	17	15641362	15641362	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:15641362G>T	uc010cov.2	+	6	500	c.250G>T	c.(250-252)GAC>TAC	p.D84Y	TBC1D26_uc010cou.1_Missense_Mutation_p.D84Y|TBC1D26_uc002gpb.3_RNA	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	84						intracellular	Rab GTPase activator activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GATGCTTGCAGACTGGACAAA	0.522		NaN											1	0	2.14674e-31	0.01441	2.36011e-31	48	49				
NOS2	4843	broad.mit.edu	37	17	26097944	26097944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:26097944C>T	uc002gzu.2	-	15	2068	c.1804G>A	c.(1804-1806)GGA>AGA	p.G602R	NOS2_uc010crh.1_Missense_Mutation_p.G602R|NOS2_uc010wab.1_Intron	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	602	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCACCTCTCCATTGCCAGGG	0.612		NaN											0	0	0	0.004482	0	8	14				
CORO6	84940	broad.mit.edu	37	17	27945821	27945821	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:27945821C>T	uc002hel.2	-	4	622	c.620G>A	c.(619-621)GGC>GAC	p.G207D	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	207	WD 3.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CACCACTTGGCCTTTTCTGGG	0.597		NaN											0	0	0	0.006214	0	10	27				
NF1	4763	broad.mit.edu	37	17	29557345	29557345	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:29557345G>A	uc002hgg.2	+	23	3391	c.3058G>A	c.(3058-3060)GAA>AAA	p.E1020K	NF1_uc002hgh.2_Missense_Mutation_p.E1020K|NF1_uc010csn.1_Missense_Mutation_p.E880K|NF1_uc002hgi.1_Missense_Mutation_p.E53K	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1020					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAATTAGTTGAAGTAATGAT	0.333		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.013726	0	36	42		Valid		
SYNRG	11276	broad.mit.edu	37	17	35914064	35914064	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:35914064T>A	uc002hoa.2	-	14	1844	c.1761A>T	c.(1759-1761)AAA>AAT	p.K587N	SYNRG_uc010wde.1_Missense_Mutation_p.K509N|SYNRG_uc010wdf.1_Missense_Mutation_p.K509N|SYNRG_uc002hoc.2_Missense_Mutation_p.K508N|SYNRG_uc002hoe.2_Missense_Mutation_p.K509N|SYNRG_uc002hod.2_Missense_Mutation_p.K509N|SYNRG_uc010wdg.1_Missense_Mutation_p.K426N|SYNRG_uc002hob.2_Missense_Mutation_p.K587N|SYNRG_uc002hof.2_Missense_Mutation_p.K299N|SYNRG_uc010cvd.1_Missense_Mutation_p.K387N	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	587	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AAGTTTTGTCTTTTGTTGGTG	0.408		NaN											0	0	0	0.01441	0	79	33				
FZD2	2535	broad.mit.edu	37	17	42635140	42635140	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42635140G>A	uc002igx.1	+	1	216	c.84G>A	c.(82-84)GAG>GAA	p.E28E		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	28	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCACGGGGAGAAGGGCATCT	0.567		NaN											0	0	0	0.004007	0	15	34				
ADAM11	4185	broad.mit.edu	37	17	42853520	42853520	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42853520G>A	uc002ihh.2	+	18	1511	c.1511G>A	c.(1510-1512)CGA>CAA	p.R504Q	ADAM11_uc010wjd.1_Missense_Mutation_p.R304Q|ADAM11_uc002ihi.2_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	504	Extracellular (Potential).|Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GTGTCCTGCCGAGAGGCCGTG	0.697		NaN											0	0	0	0.01441	0	62	77				
KIF18B	146909	broad.mit.edu	37	17	43012728	43012728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:43012728C>T	uc010wji.1	-	3	471	c.370G>A	c.(370-372)GGG>AGG	p.G124R	KIF18B_uc002iht.2_Missense_Mutation_p.G124R|KIF18B_uc010wjh.1_Missense_Mutation_p.G124R	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CCGGGGTCCCCCTCCCTTCCC	0.627		NaN											0	0	0	0.00632	0	29	19				
NSF	4905	broad.mit.edu	37	17	44788430	44788430	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:44788430G>A	uc002iku.2	+	14	1676	c.1572G>A	c.(1570-1572)CTG>CTA	p.L524L	NSF_uc010wke.1_Silent_p.L430L|NSF_uc010wkf.1_Silent_p.L430L|NSF_uc010wkg.1_Silent_p.L519L	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	524					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GGGAGCTGCTGGTGCAGCAGA	0.443		NaN											0	0	0	0.008361	0	28	24				
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46607197G>A	uc002ink.1	-	2	624	c.618C>T	c.(616-618)CTC>CTT	p.L206L		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	206	Homeobox.					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGTTGGTGCGGAGGCCACTGG	0.607		NaN											0	0	0	0.006999	0	38	115				
MTMR4	9110	broad.mit.edu	37	17	56582854	56582854	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:56582854C>T	uc002iwj.2	-	11	1192	c.1082G>A	c.(1081-1083)AGC>AAC	p.S361N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	361	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCATCTGGCTACACACAGC	0.498		NaN											0	0	0	0.010729	0	12	45				
RECQL5	9400	broad.mit.edu	37	17	73623551	73623551	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:73623551C>A	uc010dgl.2	-	20	3083	c.2927G>T	c.(2926-2928)CGG>CTG	p.R976L	RECQL5_uc010dgk.2_Missense_Mutation_p.R949L|RECQL5_uc002jot.3_Missense_Mutation_p.R172L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	976					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTCTCGCACCGGGCCCGGCC	0.632		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					1	0	4.17593e-13	0.007835	4.42062e-13	41	47				
TMC6	11322	broad.mit.edu	37	17	76122887	76122887	+	Silent	SNP	G	G	A	rs145198906		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:76122887G>A	uc002juj.1	-	1	153	c.27C>T	c.(25-27)CTC>CTT	p.L9L	TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Silent_p.L9L|TMC6_uc010dhg.1_Silent_p.L9L|TMC6_uc002jul.1_Silent_p.L9L|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Silent_p.L9L|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Silent_p.L9L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	9	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGGACATCGAGGATGAAGG	0.667		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.001984	0	6	23				
NDC80	10403	broad.mit.edu	37	18	2578122	2578122	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:2578122G>A	uc002kli.2	+	5	640	c.458G>A	c.(457-459)AGA>AAA	p.R153K		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	153	Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						GAGGTTCCAAGAATCTTTAAA	0.363		NaN											0	0	0	0.01441	0	61	61				
LAMA1	284217	broad.mit.edu	37	18	7013975	7013975	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:7013975T>C	uc002knm.2	-	23	3296	c.3202A>G	c.(3202-3204)AAA>GAA	p.K1068E	LAMA1_uc010wzj.1_Missense_Mutation_p.K544E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1068	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAAATTTTGACTTGCAC	0.572		NaN											0	0	0	0.001168	0	5	27				
CHMP1B	57132	broad.mit.edu	37	18	11852005	11852005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:11852005C>G	uc002kqe.2	+	1	617	c.495C>G	c.(493-495)AAC>AAG	p.N165K	GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	chromatin modifying protein 1B	165					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding				0						TCGACCTCAACATGGAGCTGC	0.627		NaN											0	0	0	0.004007	0	16	15				
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:12358835C>A	uc002kqz.1	-	8	973	c.860G>T	c.(859-861)GGA>GTA	p.G287V		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547		NaN											1	0	7.07596e-05	0.006122	7.24985e-05	15	59				
RIOK3	8780	broad.mit.edu	37	18	21046190	21046190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:21046190G>A	uc002kui.3	+	6	1254	c.637G>A	c.(637-639)GAA>AAA	p.E213K	RIOK3_uc010dls.2_Missense_Mutation_p.E213K|RIOK3_uc010xas.1_Missense_Mutation_p.E197K|RIOK3_uc010xat.1_Silent_p.Q4Q	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	213					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCTACTCAGAAGAACGTCG	0.353		NaN											0	0	0	0.010504	0	19	46				
MALT1	10892	broad.mit.edu	37	18	56390406	56390406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:56390406C>T	uc002lhm.1	+	10	1403	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	MALT1_uc002lhn.1_Missense_Mutation_p.S371L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	382	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	p.S371L(1)		ovary(2)|lung(1)|central_nervous_system(1)	4						AAAGTGGTTTCACTGTTGGAT	0.393		NaN	T	BIRC3	MALT								0	0	0	0.014323	0	21	34				
NFATC1	4772	broad.mit.edu	37	18	77210968	77210968	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:77210968G>C	uc010xfg.1	+	5	2057	c.1604G>C	c.(1603-1605)GGA>GCA	p.G535A	NFATC1_uc002lnc.1_Missense_Mutation_p.G535A|NFATC1_uc010xff.1_Missense_Mutation_p.G535A|NFATC1_uc002lnd.2_Missense_Mutation_p.G535A|NFATC1_uc002lne.2_Missense_Mutation_p.G63A|NFATC1_uc010xfh.1_Missense_Mutation_p.G535A|NFATC1_uc010xfi.1_Missense_Mutation_p.G522A|NFATC1_uc010xfj.1_Missense_Mutation_p.G63A|NFATC1_uc002lnf.2_Missense_Mutation_p.G522A|NFATC1_uc002lng.2_Missense_Mutation_p.G522A|NFATC1_uc010xfk.1_Missense_Mutation_p.G522A	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	535	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GACTGTGCCGGAATCCTGAAA	0.562		NaN											0	0	0	0.013114	0	46	81				
MIDN	90007	broad.mit.edu	37	19	1257191	1257191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:1257191G>A	uc002lrp.2	+	8	1842	c.1327G>A	c.(1327-1329)GGC>AGC	p.G443S		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	443						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGCCTCCGGCTTGGGCCT	0.682		NaN											0	0	0	0.008361	0	29	18				
EEF2	1938	broad.mit.edu	37	19	3982047	3982047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:3982047G>A	uc002lze.2	-	6	878	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	265						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTCAAAGTACCTGGCAA	0.592		NaN											0	0	0	0.009535	0	31	29				
MPND	84954	broad.mit.edu	37	19	4359177	4359177	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4359177C>T	uc002mae.2	+	11	1321	c.1254C>T	c.(1252-1254)TTC>TTT	p.F418F	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.F398F|MPND_uc002maf.2_Silent_p.F448F|MPND_uc002mah.2_Silent_p.F306F|MPND_uc002mai.2_Silent_p.F307F	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	418							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGAGTTCTACAAGGGTT	0.612		NaN											0	0	0	0.012213	0	31	38				
SH3GL1	6455	broad.mit.edu	37	19	4366967	4366967	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4366967C>A	uc002maj.2	-	2	176	c.70G>T	c.(70-72)GCC>TCC	p.A24S	SH3GL1_uc002mak.2_Missense_Mutation_p.A24S|SH3GL1_uc010xig.1_Missense_Mutation_p.A24S	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	24	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCCCTCGGCCCCTCCGACC	0.597		NaN	T	MLL	AL								1	0	1.48734e-19	0.013114	1.60585e-19	45	143				
ARHGEF18	23370	broad.mit.edu	37	19	7518413	7518413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:7518413C>G	uc002mgi.2	+	7	1605	c.1352C>G	c.(1351-1353)TCA>TGA	p.S451*	ARHGEF18_uc010xjm.1_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgh.2_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgj.1_Nonsense_Mutation_p.S94*	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	451	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GATATCATCTCACAAGTGGAC	0.522		NaN											0	0	0	0.008871	0	21	74				
YIPF2	78992	broad.mit.edu	37	19	11038321	11038321	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:11038321G>A	uc002mqb.2	-	4	388	c.264C>T	c.(262-264)GAC>GAT	p.D88D	YIPF2_uc002mqc.2_Silent_p.D88D|C19orf52_uc002mqd.1_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	88	Cytoplasmic (Potential).					integral to membrane|transport vesicle					0						AGGTGTCCACGTCAAAGAAGC	0.517		NaN											0	0	0	0.012319	0	22	25				
TRMT1	55621	broad.mit.edu	37	19	13220477	13220477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13220477C>A	uc002mwj.2	-	10	1448	c.1198G>T	c.(1198-1200)GAG>TAG	p.E400*	TRMT1_uc010xmy.1_Nonsense_Mutation_p.E4*|TRMT1_uc002mwk.2_Nonsense_Mutation_p.E371*|TRMT1_uc002mwl.3_Nonsense_Mutation_p.E400*|TRMT1_uc010xmz.1_Nonsense_Mutation_p.E186*	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	400							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGGATGGGCTCTGCCCACATG	0.652		NaN											1	0	4.54149e-19	0.014323	4.89361e-19	21	56				
TRMT1	55621	broad.mit.edu	37	19	13223540	13223540	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13223540C>A	uc002mwj.2	-	6	1099	c.849G>T	c.(847-849)AAG>AAT	p.K283N	TRMT1_uc002mwk.2_Missense_Mutation_p.K283N|TRMT1_uc002mwl.3_Missense_Mutation_p.K283N|TRMT1_uc010xmz.1_Missense_Mutation_p.K69N	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	283							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCCGGCTCTTGAGGGCCA	0.642		NaN											1	0	1.02788e-11	0.00499	1.08599e-11	16	78				
TRMT1	55621	broad.mit.edu	37	19	13226568	13226568	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13226568C>G	uc002mwj.2	-	3	575	c.325G>C	c.(325-327)GAG>CAG	p.E109Q	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E109Q|TRMT1_uc002mwl.3_Missense_Mutation_p.E109Q|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	109							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTCCTTCTCTCCTGGAACC	0.502		NaN											0	0	0	0.013114	0	45	141				
MRI1	84245	broad.mit.edu	37	19	13882933	13882933	+	Splice_Site	SNP	A	A	G	rs112124892	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13882933A>G	uc002mxe.2	+	6	1016	c.950_splice	c.e6-2	p.G317_splice	MRI1_uc002mxf.2_Splice_Site_p.G270_splice|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit						L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TCTCCCCTGCAGGGATTGGAG	0.542		NaN											0	0	0	0.013726	0	33	28				
DCAF15	90379	broad.mit.edu	37	19	14065247	14065247	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:14065247A>C	uc002mxt.2	+	2	234	c.228A>C	c.(226-228)GCA>GCC	p.A76A	PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	76										central_nervous_system(1)	1						TCCTCTATGCAGGGTGAGGCT	0.657		NaN											0	0	0	0.006214	0	10	38				
CPAMD8	27151	broad.mit.edu	37	19	17132940	17132940	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:17132940G>A	uc002nfb.2	-	2	317	c.285C>T	c.(283-285)GTC>GTT	p.V95V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	48						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TCACGCTGATGACTTCCTCCA	0.602		NaN											0	0	0	0.010729	0	11	8				
CRLF1	9244	broad.mit.edu	37	19	18705189	18705189	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:18705189C>G	uc010ebt.1	-	7	1274	c.1080G>C	c.(1078-1080)TCG>TCC	p.S360S		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	360					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						GCACCGGCCCCGAGCTCGGCT	0.617		NaN											0	0	0	0.014758	0	4	7				
ZNF792	126375	broad.mit.edu	37	19	35450251	35450251	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35450251C>T	uc002nxh.1	-	4	895	c.508G>A	c.(508-510)GAG>AAG	p.E170K		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAACTCAGAGCCTTTC	0.502		NaN											0	0	0	0.01441	0	132	188				
DMKN	93099	broad.mit.edu	37	19	35993780	35993780	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35993780G>A	uc002nzm.3	-	10	1326	c.1143C>T	c.(1141-1143)GTC>GTT	p.V381V	DMKN_uc002nzi.3_5'Flank|DMKN_uc002nzj.2_Silent_p.V55V|DMKN_uc002nzk.3_Silent_p.V28V|DMKN_uc002nzl.3_Silent_p.V94V|DMKN_uc002nzo.3_Silent_p.V370V|DMKN_uc002nzn.3_Silent_p.V340V|DMKN_uc002nzw.2_Silent_p.V37V|DMKN_uc002nzr.2_Silent_p.V37V|DMKN_uc002nzp.2_Silent_p.V75V|DMKN_uc002nzq.2_Silent_p.V57V|DMKN_uc002nzt.2_Silent_p.V28V|DMKN_uc002nzs.2_Silent_p.V28V|DMKN_uc002nzu.2_Silent_p.V28V|DMKN_uc002nzv.2_Silent_p.V28V|DMKN_uc010xsv.1_Silent_p.V28V|DMKN_uc010xsw.1_Silent_p.V77V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	381						extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGGGGGCGGGACCTGGTTCT	0.607		NaN											0	0	0	0.006122	0	16	37				
SHKBP1	92799	broad.mit.edu	37	19	41086561	41086561	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41086561A>G	uc002oob.2	+	8	701	c.652A>G	c.(652-654)AGG>GGG	p.R218G	SHKBP1_uc002ooc.2_Missense_Mutation_p.R218G|SHKBP1_uc002ood.2_Missense_Mutation_p.R218G|SHKBP1_uc010xvl.1_Missense_Mutation_p.R141G|SHKBP1_uc002ooe.2_Missense_Mutation_p.R55G|SHKBP1_uc002oof.2_Missense_Mutation_p.R55G|SHKBP1_uc010xvm.1_Missense_Mutation_p.R55G|SHKBP1_uc010xvn.1_Missense_Mutation_p.R96G	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	218						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTGCTACAGGTGCTTGGG	0.582		NaN											0	0	0	0.007291	0	30	62				
CYP2A7	1549	broad.mit.edu	37	19	41383229	41383229	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41383229A>G	uc002opm.2	-	7	1569	c.1027T>C	c.(1027-1029)TTT>CTT	p.F343L	CYP2A7_uc002opo.2_Missense_Mutation_p.F343L|CYP2A7_uc002opn.2_Missense_Mutation_p.F292L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGTCCTCAAACTTGGGCTGC	0.542		NaN											0	0	0	0.01441	0	51	65				
MEGF8	1954	broad.mit.edu	37	19	42856512	42856512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:42856512G>A	uc002otl.3	+	18	3688	c.3053G>A	c.(3052-3054)TGC>TAC	p.C1018Y	MEGF8_uc002otm.3_Missense_Mutation_p.C626Y	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1085	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTGGCCCGGTGCCACCCGCGG	0.701		NaN											0	0	0	0.00308	0	8	6				
ZNF222	7673	broad.mit.edu	37	19	44536804	44536804	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:44536804C>T	uc002oyc.2	+	4	1160	c.977C>T	c.(976-978)TCA>TTA	p.S326L	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S366L|ZNF222_uc002oyd.2_Missense_Mutation_p.S272L	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				AAATGGTCCTCATATCTTTTG	0.413		NaN											0	0	0	0.01441	0	70	117				
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:45867687T>C	uc002pbj.2	-	8	760	c.713A>G	c.(712-714)AAC>AGC	p.N238S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001984	0	7	24		Valid		
GPR77	27202	broad.mit.edu	37	19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:47844630G>A	uc010ela.1	+	2	792	c.574G>A	c.(574-576)GGC>AGC	p.G192S	GPR77_uc002pgk.1_Missense_Mutation_p.G192S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	192	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGACTACGGCGGCTCCTCCAG	0.667		NaN											0	0	0	0.012213	0	33	45				
GYS1	2997	broad.mit.edu	37	19	49496351	49496351	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49496351A>C	uc002plp.2	-	1	260	c.19T>G	c.(19-21)TTG>GTG	p.L7V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.L7V|GYS1_uc010xzz.1_5'UTR|GYS1_uc010yaa.1_RNA|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank|RUVBL2_uc010yac.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	7					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GACATGGACAAAGTGCGGTTT	0.612		NaN									OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	58	104				
HRC	3270	broad.mit.edu	37	19	49658510	49658510	+	Translation_Start_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49658510G>T	uc002pmv.2	-	1	172	c.-15C>A	c.(-17--13)TGCTG>TGATG		TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein						muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CGGACAGGCAGCACTGGCTCC	0.612		NaN											1	0	9.31168e-06	0.016723	9.6132e-06	14	13				
TEAD2	8463	broad.mit.edu	37	19	49852004	49852004	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49852004C>T	uc002pnj.2	-	8	782	c.691G>A	c.(691-693)GTA>ATA	p.V231I	TEAD2_uc002png.2_Missense_Mutation_p.V234I|TEAD2_uc002pnh.2_Missense_Mutation_p.V235I|TEAD2_uc002pni.2_Missense_Mutation_p.V234I|TEAD2_uc010yao.1_Missense_Mutation_p.V103I|TEAD2_uc010emw.2_Missense_Mutation_p.V234I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	231	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGAACTCTACCAGCTGCAAC	0.607		NaN											0	0	0	0.01441	0	53	56				
LIM2	3982	broad.mit.edu	37	19	51883515	51883515	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:51883515C>G	uc002pwm.2	-	5	506	c.462G>C	c.(460-462)GGG>GGC	p.G154G	LIM2_uc002pwl.2_Silent_p.G196G	NM_001161748	NP_001155220	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa isoform	154	Helical; (Potential).				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TGTAGAAAATCCCTGCATGAG	0.537		NaN											0	0	0	0.004672	0	3	22				
ZNF615	284370	broad.mit.edu	37	19	52497266	52497266	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:52497266C>T	uc002pye.1	-	6	1355	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	ZNF615_uc002pyf.1_Missense_Mutation_p.E366K|ZNF615_uc002pyg.1_Missense_Mutation_p.E247K|ZNF615_uc002pyh.1_Missense_Mutation_p.E366K|ZNF615_uc010epi.1_Missense_Mutation_p.E362K|ZNF615_uc010ydg.1_Missense_Mutation_p.E360K	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGCCTCTTCTCAATGAAGCCT	0.398		NaN											0	0	0	0.01441	0	49	101				
MYADM	91663	broad.mit.edu	37	19	54377621	54377621	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54377621A>C	uc002qcl.2	+	3	986	c.838A>C	c.(838-840)AGC>CGC	p.S280R	MYADM_uc002qcm.2_Missense_Mutation_p.S280R|MYADM_uc002qcn.2_Missense_Mutation_p.S280R|MYADM_uc002qco.2_Missense_Mutation_p.S280R|MYADM_uc002qcp.2_Missense_Mutation_p.S280R	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGTAAGCTGCAGCCGCAGCCA	0.617		NaN											0	0	0	0.004007	0	15	52				
CNOT3	4849	broad.mit.edu	37	19	54647749	54647749	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54647749A>G	uc002qdj.1	+	6	577	c.266A>G	c.(265-267)GAA>GGA	p.E89G	CNOT3_uc010yel.1_Missense_Mutation_p.E89G|CNOT3_uc002qdi.2_Missense_Mutation_p.E2G|CNOT3_uc002qdk.1_Missense_Mutation_p.E89G|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	89					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGCAAATGGAACGGTTCAAA	0.557		NaN											0	0	0	0.012213	0	33	56				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NaN											1	0	0.000602214	0.014758	0.000611236	5	24				
YWHAQ	10971	broad.mit.edu	37	2	9728302	9728302	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:9728302C>T	uc002qzw.2	-	3	738	c.574G>A	c.(574-576)GCT>ACT	p.A192T	YWHAQ_uc002qzx.2_Missense_Mutation_p.A192T	NM_006826	NP_006817	P27348	1433T_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	192					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACCGTTTTAGCCAGCGTGCAG	0.413		NaN											0	0	0	0.008361	0	30	19				
GREB1	9687	broad.mit.edu	37	2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:11772057C>T	uc002rbk.1	+	27	4934	c.4634C>T	c.(4633-4635)CCG>CTG	p.P1545L	GREB1_uc002rbp.1_Missense_Mutation_p.P543L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.343		NaN											0	0	0	0.016723	0	12	23				
RAD51AP2	729475	broad.mit.edu	37	2	17697446	17697446	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:17697446C>T	uc002rcl.1	-	1	2261	c.2237G>A	c.(2236-2238)CGA>CAA	p.R746Q	RAD51AP2_uc010exn.1_Missense_Mutation_p.R737Q	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	746										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGTATCCTCGGTTGTTCTG	0.323		NaN											0	0	0	0.00623	0	40	15				
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:20405117G>T	uc002rdo.1	-	2	434	c.135C>A	c.(133-135)TCC>TCA	p.S45S	SDC1_uc002rdp.1_Silent_p.S45S|SDC1_uc010exv.2_Silent_p.S45S|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	45	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532		NaN											1	0	5.08636e-23	0.01441	5.5469e-23	62	30				
REL	5966	broad.mit.edu	37	2	61149024	61149024	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:61149024C>T	uc002sam.1	+	11	1438	c.1214C>T	c.(1213-1215)GCA>GTA	p.A405V	REL_uc002san.1_Missense_Mutation_p.A373V	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	405					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GCCTCAATGGCACCTCTGCCT	0.507		NaN	A		Hodgkin Lymphoma								0	0	0	0.005443	0	26	67				
AFTPH	54812	broad.mit.edu	37	2	64779951	64779951	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:64779951T>C	uc002sdc.2	+	1	1375	c.1343T>C	c.(1342-1344)TTT>TCT	p.F448S	AFTPH_uc002scz.2_Missense_Mutation_p.F448S|AFTPH_uc002sda.2_Missense_Mutation_p.F448S|AFTPH_uc002sdb.2_Missense_Mutation_p.F448S	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	448					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						ACTCCACCTTTTGTTACTGGT	0.398		NaN											0	0	0	0.005524	0	40	135				
ST3GAL5	8869	broad.mit.edu	37	2	86090551	86090551	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:86090551A>G	uc002sqq.1	-	2	269	c.140T>C	c.(139-141)CTG>CCG	p.L47P	ST3GAL5_uc010ysy.1_Missense_Mutation_p.L47P|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L47P|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L24P	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	47	Cytoplasmic (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						GTACCATTGCAGGGAAGGCCT	0.512		NaN											0	0	0	0.004007	0	15	56				
VWA3B	200403	broad.mit.edu	37	2	98779342	98779342	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:98779342C>T	uc002syo.2	+	8	1281	c.1017C>T	c.(1015-1017)CTC>CTT	p.L339L	VWA3B_uc010yvh.1_Silent_p.L189L|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.L339L|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	339										ovary(3)|large_intestine(2)|skin(1)	6						ACGTGTTTCTCGTTTGGCAAG	0.637		NaN											0	0	0	0.004656	0	26	17				
TTL	150465	broad.mit.edu	37	2	113258822	113258822	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:113258822T>C	uc002thu.2	+	4	688	c.509T>C	c.(508-510)CTC>CCC	p.L170P	TTL_uc010fkm.1_5'Flank	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	170	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCAGAGCTTCTCGATTTCATA	0.458		NaN	T	ETV6	ALL								0	0	0	0.008871	0	21	55				
SCTR	6344	broad.mit.edu	37	2	120221747	120221747	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:120221747G>A	uc002tma.2	-	6	814	c.588C>T	c.(586-588)GAC>GAT	p.D196D	SCTR_uc002tlz.2_Silent_p.D18D	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	196	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity	p.D196N(1)		ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	AGAGCACGGCGTCCTTGATGA	0.582		NaN											0	0	0	0.00499	0	18	61				
PROC	5624	broad.mit.edu	37	2	128185988	128185988	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128185988G>A	uc002tok.2	+	9	925	c.852G>A	c.(850-852)GAG>GAA	p.E284E	PROC_uc002tol.2_Silent_p.E305E|PROC_uc010yzi.1_Silent_p.E340E|PROC_uc010yzj.1_Silent_p.E179E|PROC_uc010yzk.1_Silent_p.E339E|PROC_uc002tom.2_Silent_p.E318E	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	284	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACATCAAGGAGGTCTTCGTCC	0.632		NaN											0	0	0	0.00632	0	30	34				
MYO7B	4648	broad.mit.edu	37	2	128324290	128324290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128324290C>T	uc002top.2	+	5	411	c.358C>T	c.(358-360)CAG>TAG	p.Q120*		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	120	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGCAGGTACAGCTCTACTA	0.592		NaN											0	0	0	0.009096	0	4	17				
LIMS2	55679	broad.mit.edu	37	2	128399647	128399647	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128399647G>A	uc002tpa.2	-	6	803	c.637C>T	c.(637-639)CTG>TTG	p.L213L	LIMS2_uc002tou.2_Silent_p.L21L|LIMS2_uc002tov.2_Silent_p.L61L|LIMS2_uc002tow.2_Silent_p.L61L|LIMS2_uc002tox.2_Silent_p.L237L|LIMS2_uc010fmb.2_Silent_p.L123L|LIMS2_uc002toy.2_Silent_p.L208L|LIMS2_uc010yzm.1_Silent_p.L235L|LIMS2_uc002toz.2_Silent_p.L208L|LIMS2_uc002tpb.2_Silent_p.L208L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	213	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCTTGCCCAGCGCGTTGACC	0.667		NaN											0	0	0	0.004672	0	3	12				
SAP130	79595	broad.mit.edu	37	2	128699689	128699689	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128699689C>G	uc002tpp.2	-	20	3170	c.3038G>C	c.(3037-3039)AGA>ACA	p.R1013T	SAP130_uc002tpn.2_Missense_Mutation_p.R773T|SAP130_uc002tpo.2_Missense_Mutation_p.R793T|SAP130_uc010fmd.2_Missense_Mutation_p.R1048T	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	1013	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CATGGAGTCTCTGGCTTCACT	0.413		NaN											0	0	0	0.007291	0	31	71				
RAB3GAP1	22930	broad.mit.edu	37	2	135922214	135922214	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:135922214G>A	uc002tuj.2	+	23	2682	c.2657G>A	c.(2656-2658)GGA>GAA	p.G886E	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G886E|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G711E|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	886						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCGGTGCAGGAAGAGGACAT	0.498		NaN											0	0	0	0.006214	0	10	22				
LYPD6B	130576	broad.mit.edu	37	2	150061768	150061768	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:150061768T>C	uc002twv.1	+	4	480	c.79T>C	c.(79-81)TAT>CAT	p.Y27H	LYPD6B_uc002tww.1_5'UTR|LYPD6B_uc002twx.1_5'UTR	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	3						anchored to membrane|plasma membrane					0						TCACCATAGATATAAGAGTTC	0.433		NaN											0	0	0	0.01441	0	52	43				
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:170151164G>C	uc002ues.2	-	5	697	c.484C>G	c.(484-486)CAG>GAG	p.Q162E	LRP2_uc010zdf.1_Missense_Mutation_p.Q162E	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	162	LDL-receptor class A 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACACTTCTGACTGGTGTTA	0.318		NaN											0	0	0	0.004656	0	25	25				
GPR155	151556	broad.mit.edu	37	2	175304649	175304649	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:175304649G>A	uc002uit.2	-	16	2680	c.2289C>T	c.(2287-2289)ATC>ATT	p.I763I	GPR155_uc002uiu.2_Silent_p.I763I|GPR155_uc002uiv.2_Silent_p.I763I|GPR155_uc010fqs.2_Silent_p.I735I	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	763	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						CAATGTTTCGGATACAGAGGT	0.343		NaN											0	0	0	0.007413	0	17	77				
TTN	7273	broad.mit.edu	37	2	179587113	179587113	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:179587113A>G	uc010zfg.1	-	74	18893	c.18669T>C	c.(18667-18669)ACT>ACC	p.T6223T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2884T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7150							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACAAATGAAGTCTGTAGAT	0.413		NaN											0	0	0	0.012213	0	35	24				
PIKFYVE	200576	broad.mit.edu	37	2	209142384	209142384	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:209142384A>T	uc002vcz.2	+	5	723	c.565A>T	c.(565-567)AGT>TGT	p.S189C	PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S189C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S189C|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	189	FYVE-type.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GATTTTCTGCAGTCGTTGCTG	0.383		NaN											0	0	0	0.009535	0	27	107				
TNS1	7145	broad.mit.edu	37	2	218712961	218712961	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:218712961C>T	uc002vgt.2	-	17	2302	c.1904G>A	c.(1903-1905)CGA>CAA	p.R635Q	TNS1_uc002vgr.2_Missense_Mutation_p.R635Q|TNS1_uc002vgs.2_Missense_Mutation_p.R635Q|TNS1_uc010zjv.1_Missense_Mutation_p.R635Q|TNS1_uc010fvj.1_Missense_Mutation_p.R703Q|TNS1_uc010fvk.1_Missense_Mutation_p.R760Q|TNS1_uc010fvi.1_Missense_Mutation_p.R322Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	635						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTCCCCCTCGGACCGGAGC	0.542		NaN											0	0	0	0.001168	0	6	59				
OBSL1	23363	broad.mit.edu	37	2	220434968	220434968	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:220434968G>A	uc010fwk.2	-	1	1044	c.987C>T	c.(985-987)CTC>CTT	p.L329L	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L329L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	329	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGGCACTGAGCGTCTGGC	0.692		NaN											0	0	0	0.00308	0	8	8				
ATG16L1	55054	broad.mit.edu	37	2	234198934	234198934	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234198934T>C	uc002vty.2	+	14	1622	c.1365T>C	c.(1363-1365)ATT>ATC	p.I455I	ATG16L1_uc002vtx.1_Silent_p.I292I|ATG16L1_uc002vua.2_Silent_p.I436I|ATG16L1_uc002vub.2_Silent_p.I313I|ATG16L1_uc002vtz.2_Silent_p.I276I|ATG16L1_uc002vud.3_Silent_p.I371I	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	455	WD 4.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCAATGATATTGTCTGCACAG	0.413		NaN											0	0	0	0.00623	0	37	68				
UGT1A10	54575	broad.mit.edu	37	2	234545483	234545483	+	Silent	SNP	A	A	C	rs45580232		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234545483A>C	uc002vur.2	+	1	361	c.315A>C	c.(313-315)ATA>ATC	p.I105I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.I105I	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	105					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACAAAGTATATTTTCTCTAT	0.388		NaN											0	0	0	0.006122	0	19	73				
DEFB125	245938	broad.mit.edu	37	20	76978	76978	+	Missense_Mutation	SNP	G	G	A	rs140898692		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:76978G>A	uc002wcw.2	+	2	391	c.391G>A	c.(391-393)GAG>AAG	p.E131K		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	131					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CACTACTCCCGAGACTACTAT	0.428		NaN											0	0	0	0.01441	0	55	324				
ADAM33	80332	broad.mit.edu	37	20	3655249	3655249	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:3655249G>A	uc002wit.2	-	6	589	c.502C>T	c.(502-504)CGG>TGG	p.R168W	ADAM33_uc002wir.1_Missense_Mutation_p.R168W|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R168W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R180W|ADAM33_uc010zqh.1_Missense_Mutation_p.R168W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	168	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						TGCTCCATCCGAAAGATCTCG	0.607		NaN											0	0	0	0.00632	0	29	139				
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:4168011G>A	uc002wkm.1	+	7	1826	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	SMOX_uc002wkk.1_Missense_Mutation_p.R519H|SMOX_uc002wkl.1_Missense_Mutation_p.R489H|SMOX_uc002wkn.1_Missense_Mutation_p.R177H|SMOX_uc002wkp.2_Missense_Mutation_p.R572H|SMOX_uc010zqo.1_Missense_Mutation_p.R466H|SMOX_uc002wko.1_Missense_Mutation_p.R542H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632		NaN											0	0	0	0.010818	0	32	54				
PCNA	5111	broad.mit.edu	37	20	5098271	5098271	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:5098271C>T	uc002wlp.2	-	4	630	c.427G>A	c.(427-429)GAA>AAA	p.E143K	PCNA_uc002wlq.2_Missense_Mutation_p.E143K	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	143					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			lung(1)	1						CGTGCAAATTCACCAGAAGGC	0.383		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.013726	0	29	118				
RRBP1	6238	broad.mit.edu	37	20	17600979	17600979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17600979C>T	uc002wpv.1	-	19	2599	c.2245G>A	c.(2245-2247)GAG>AAG	p.E749K	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.E119K|RRBP1_uc002wpu.2_Missense_Mutation_p.E523K|RRBP1_uc002wpw.1_Missense_Mutation_p.E749K|RRBP1_uc010gcl.1_Missense_Mutation_p.E523K|RRBP1_uc010gcm.1_3'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1182	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TTTAGCTTCTCTACAATCTCT	0.517		NaN											0	0	0	0.01441	0	56	89				
RRBP1	6238	broad.mit.edu	37	20	17602568	17602568	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17602568G>C	uc002wpv.1	-	15	2227	c.1873C>G	c.(1873-1875)CTG>GTG	p.L625V	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_5'UTR|RRBP1_uc002wpu.2_Missense_Mutation_p.L399V|RRBP1_uc002wpw.1_Missense_Mutation_p.L625V|RRBP1_uc010gcl.1_Missense_Mutation_p.L399V|RRBP1_uc010gcm.1_Missense_Mutation_p.L78V	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1058	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						GCCTCAATCAGACAGAGCTGC	0.612		NaN											0	0	0	0.012319	0	22	76				
CST8	10047	broad.mit.edu	37	20	23472362	23472362	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:23472362G>A	uc002wth.1	+	2	415	c.58G>A	c.(58-60)GCC>ACC	p.A20T		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	20						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCCCTGGTGGCCAGGAAAGA	0.557		NaN											0	0	0	0.01441	0	47	89				
MAP1LC3A	84557	broad.mit.edu	37	20	33147580	33147580	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33147580C>A	uc002xaq.1	+	4	398	c.244C>A	c.(244-246)CTG>ATG	p.L82M	MAP1LC3A_uc002xap.1_Missense_Mutation_p.L86M	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	82					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						CTTCTTCCTGCTGGTGAACCA	0.632		NaN											1	0	1.11057e-38	0.01441	1.22344e-38	81	173				
ACSS2	55902	broad.mit.edu	37	20	33507279	33507279	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33507279C>T	uc002xbd.2	+	8	997	c.876C>T	c.(874-876)CTC>CTT	p.L292L	ACSS2_uc002xbc.2_Silent_p.L197L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.L305L|ACSS2_uc002xbe.2_5'UTR|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	292					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCATGAGCTCATGCAAGAGG	0.557		NaN											0	0	0	0.01441	0	55	154				
BPI	671	broad.mit.edu	37	20	36937359	36937359	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:36937359C>T	uc002xib.2	+	3	347	c.285C>T	c.(283-285)CCC>CCT	p.P95P		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	95					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TCCAGCTTCCCAGTTCCCAGA	0.448		NaN											0	0	0	0.01441	0	51	107				
SLC32A1	140679	broad.mit.edu	37	20	37353467	37353467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:37353467C>T	uc002xjc.2	+	1	363	c.100C>T	c.(100-102)CAG>TAG	p.Q34*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	34	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GATGGGTTTTCAGGCGGCCAC	0.632		NaN											0	0	0	0.008871	0	19	19				
CHD6	84181	broad.mit.edu	37	20	40044106	40044106	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:40044106G>C	uc002xka.1	-	34	6837	c.6659C>G	c.(6658-6660)TCC>TGC	p.S2220C	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2220					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TGATGAGCAGGAGAGGTCCAT	0.612		NaN											0	0	0	0.003163	0	16	31				
DNTTIP1	116092	broad.mit.edu	37	20	44430092	44430092	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:44430092A>G	uc002xpk.2	+	6	561	c.493A>G	c.(493-495)AAA>GAA	p.K165E		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	165	Nuclear localization signal (Potential).					nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				CCCCCTTCCTAAAAAGGTAAA	0.378		NaN											0	0	0	0.014323	0	22	120				
ADNP	23394	broad.mit.edu	37	20	49510909	49510909	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:49510909G>A	uc002xvt.1	-	5	687	c.342C>T	c.(340-342)TTC>TTT	p.F114F	ADNP_uc002xvu.1_Silent_p.F114F	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	114	C2H2-type 2; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TGTCTGCATTGAAGGTACAGT	0.393		NaN											0	0	0	0.010771	0	43	115				
BCAS1	8537	broad.mit.edu	37	20	52645077	52645077	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:52645077A>T	uc002xws.2	-	4	915	c.577T>A	c.(577-579)TTT>ATT	p.F193I	BCAS1_uc010zzb.1_Missense_Mutation_p.F96I|BCAS1_uc010gim.2_Missense_Mutation_p.F96I|BCAS1_uc002xwt.2_Missense_Mutation_p.F193I|BCAS1_uc010gil.1_Missense_Mutation_p.F193I|BCAS1_uc010zzc.1_Missense_Mutation_p.F96I	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	193						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTCAAAAAAGCTGGAGTCC	0.562		NaN											0	0	0	0.01441	0	74	110				
TFAP2C	7022	broad.mit.edu	37	20	55206484	55206484	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:55206484A>G	uc002xya.2	+	2	515	c.272A>G	c.(271-273)CAC>CGC	p.H91R	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	91	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			AACCCCCTGCACCAGCCGGCG	0.741		NaN											0	0	0	0.004672	0	3	7				
LSM14B	149986	broad.mit.edu	37	20	60706476	60706476	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:60706476C>T	uc010gjy.1	+	7	1106	c.900C>T	c.(898-900)CCC>CCT	p.P300P	LSM14B_uc002ybv.2_Silent_p.P274P|LSM14B_uc010zzz.1_Silent_p.P220P	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	300					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAAGCGCCCGCTGAGGAAG	0.527		NaN											0	0	0	0.010504	0	21	25				
TIAM1	7074	broad.mit.edu	37	21	32525013	32525013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:32525013C>A	uc002yow.1	-	20	3779	c.3307G>T	c.(3307-3309)GAA>TAA	p.E1103*	TIAM1_uc011adk.1_Nonsense_Mutation_p.E1103*|TIAM1_uc011adl.1_Nonsense_Mutation_p.E1043*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1103	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTCCATCTTCTAGAGTTTTA	0.378		NaN											1	0	9.57634e-11	0.01892	1.00784e-10	25	57				
MORC3	23515	broad.mit.edu	37	21	37741384	37741384	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:37741384A>G	uc002yvi.2	+	15	1794	c.1718A>G	c.(1717-1719)GAT>GGT	p.D573G		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	573					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GGTGATGATGATGATGAAGAT	0.378		NaN											0	0	0	0.011902	0	45	50				
HLCS	3141	broad.mit.edu	37	21	38139583	38139583	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:38139583C>T	uc010gnb.2	-	7	2656	c.1455G>A	c.(1453-1455)CTG>CTA	p.L485L	HLCS_uc002yvs.2_Silent_p.L485L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	485					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTGAAACATCAGCCTGCCGA	0.567		NaN											0	0	0	0.00245	0	14	56				
HMGN1	3150	broad.mit.edu	37	21	40715063	40715063	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:40715063C>T	uc002yxo.2	-	6	482	c.278G>A	c.(277-279)GGA>GAA	p.G93E	HMGN1_uc002yxp.2_Missense_Mutation_p.E57K|HMGN1_uc002yxq.2_Missense_Mutation_p.E57K|HMGN1_uc002yxr.2_RNA	NM_004965	NP_004956	P05114	HMGN1_HUMAN	high-mobility group nucleosome binding domain 1	93					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(1)	1		Prostate(19;8.69e-07)				TTCTTTCTCTCCTGCTTCATC	0.368		NaN											0	0	0	0.006214	0	9	44				
DSCAM	1826	broad.mit.edu	37	21	42218552	42218552	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:42218552G>A	uc002yyq.1	-	1	488	c.36C>T	c.(34-36)TTC>TTT	p.F12F	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	12					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCATTCGCGAAGCTCTGGA	0.502		NaN											0	0	0	0.014758	0	5	2				
RSPH1	89765	broad.mit.edu	37	21	43916272	43916272	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:43916272A>G	uc002zbg.2	-	1	130	c.25T>C	c.(25-27)TTG>CTG	p.L9L	SLC37A1_uc002zbh.1_RNA	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	9					meiosis	cytosol|nucleus				ovary(1)	1						TCCTCCTCCAACTCCTCCGAG	0.657		NaN											0	0	0	0.004007	0	13	36				
DIP2A	23181	broad.mit.edu	37	21	47953951	47953951	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:47953951G>A	uc002zjo.2	+	12	1647	c.1464G>A	c.(1462-1464)GGG>GGA	p.G488G	DIP2A_uc011afy.1_Silent_p.G424G|DIP2A_uc011afz.1_Silent_p.G484G|DIP2A_uc002zjl.2_Silent_p.G488G|DIP2A_uc002zjm.2_Silent_p.G488G|DIP2A_uc010gql.2_Silent_p.G445G|DIP2A_uc002zjn.2_Silent_p.G488G|DIP2A_uc002zjp.1_Silent_p.G233G	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	488					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGATTGATGGGAAGCATCTAG	0.562		NaN											0	0	0	0.009096	0	4	16				
CLTCL1	8218	broad.mit.edu	37	22	19222205	19222205	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222205C>T	uc002zpb.2	-	7	1069	c.994G>A	c.(994-996)GAT>AAT	p.D332N	CLTCL1_uc011agv.1_Missense_Mutation_p.D332N|CLTCL1_uc011agw.1_Missense_Mutation_p.D332N	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	332	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ACAATGTTATCTTCCTCAACA	0.502		NaN	T	NaN	ALCL								0	0	0	0.01441	0	48	30				
CLTCL1	8218	broad.mit.edu	37	22	19222208	19222208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222208C>T	uc002zpb.2	-	7	1066	c.991G>A	c.(991-993)GAA>AAA	p.E331K	CLTCL1_uc011agv.1_Missense_Mutation_p.E331K|CLTCL1_uc011agw.1_Missense_Mutation_p.E331K	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	331	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATGTTATCTTCCTCAACACAA	0.507		NaN	T	NaN	ALCL								0	0	0	0.01441	0	50	31				
LZTR1	8216	broad.mit.edu	37	22	21351029	21351029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:21351029G>T	uc002zto.2	+	19	2367	c.2264G>T	c.(2263-2265)CGG>CTG	p.R755L	LZTR1_uc002ztn.2_Missense_Mutation_p.R714L|LZTR1_uc011ahy.1_Missense_Mutation_p.R736L|LZTR1_uc002ztp.2_Missense_Mutation_p.R61L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACAACAACCGGCTGCAGGCG	0.617		NaN											1	0	0.00121646	0.008871	0.00123238	19	9				
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24582315G>T	uc002zzn.1	+	10	1618	c.1574G>T	c.(1573-1575)GGA>GTA	p.G525V		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	525	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AACAGGACCGGAGGTCTGGAG	0.652		NaN											1	0	3.59834e-05	0.001168	3.70076e-05	5	19				
MTMR3	8897	broad.mit.edu	37	22	30394794	30394794	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:30394794G>C	uc003agv.3	+	8	833	c.505G>C	c.(505-507)GGT>CGT	p.G169R	MTMR3_uc003agu.3_Missense_Mutation_p.G169R|MTMR3_uc003agw.3_Missense_Mutation_p.G169R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	169	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATGGGTTTTGATAT	0.428		NaN											0	0	0	0.009096	0	4	12				
MYH9	4627	broad.mit.edu	37	22	36745173	36745173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:36745173C>G	uc003apg.2	-	2	340	c.109G>C	c.(109-111)GAC>CAC	p.D37H	MYH9_uc003api.1_Missense_Mutation_p.D37H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	37	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCACTCTTGTCGGAAGGCACC	0.552		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.016723	0	12	18				
CARD10	29775	broad.mit.edu	37	22	37904564	37904564	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:37904564C>T	uc003asx.1	-	5	1038	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.E59E|CARD10_uc003asy.1_Silent_p.E345E	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	345	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CCCACTGCAGCTCCCCCTGCA	0.697		NaN											0	0	0	0.009096	0	4	4				
FAM83F	113828	broad.mit.edu	37	22	40415995	40415995	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:40415995G>A	uc003ayk.1	+	3	856	c.762G>A	c.(760-762)GTG>GTA	p.V254V		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	254										breast(1)	1						GTGACAAAGTGGCCACTGGAT	0.587		NaN											0	0	0	0.009718	0	41	20				
ACO2	50	broad.mit.edu	37	22	41913629	41913629	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:41913629C>G	uc003bac.2	+	7	956	c.934C>G	c.(934-936)CGG>GGG	p.R312G	ACO2_uc003bad.2_Missense_Mutation_p.R337G	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	312					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CAAGACCGGCCGGGAAGGTGA	0.567		NaN									OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	15				
SERHL2	253190	broad.mit.edu	37	22	42952596	42952596	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:42952596T>A	uc003bcr.2	+	6	525	c.423_splice	c.e6+2	p.D141_splice	SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Splice_Site_p.D127_splice|SERHL2_uc010gyz.2_Splice_Site_p.D77_splice|SERHL2_uc010gyy.2_Splice_Site|SERHL2_uc011apo.1_Splice_Site|RRP7B_uc003bcs.2_RNA	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2							perinuclear region of cytoplasm|peroxisome	hydrolase activity				0						GAATCAGATGTGAGAAGCGGG	0.562		NaN											0	0	0	0.01441	0	38	83				
ITPR1	3708	broad.mit.edu	37	3	4730215	4730215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:4730215G>A	uc003bqa.2	+	31	4060	c.3712G>A	c.(3712-3714)GCT>ACT	p.A1238T	ITPR1_uc010hca.1_Missense_Mutation_p.A1223T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.A169T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1247	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AATGAGGTTGGCTCATGAATT	0.468		NaN											0	0	0	0.008361	0	30	106				
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8607273A>C	uc003bqq.2	+	5	993	c.879A>C	c.(877-879)GCA>GCC	p.A293A	LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632		NaN											0	0	0	0.008291	0	7	18				
OXTR	5021	broad.mit.edu	37	3	8809375	8809375	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8809375C>T	uc003brc.2	-	3	1121	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	167	Helical; Name=4; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCGCGCTGGCCACCAGGCAG	0.716		NaN											0	0	0	0.012319	0	21	12				
BRPF1	7862	broad.mit.edu	37	3	9785587	9785587	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9785587T>C	uc003bse.2	+	8	3016	c.2617_splice	c.e8+2	p.G873_splice	BRPF1_uc003bsf.2_Splice_Site_p.G879_splice|BRPF1_uc003bsg.2_Splice_Site_p.G872_splice|BRPF1_uc011ati.1_Splice_Site_p.D873_splice	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CAAGCAAAGGTCTGAATCCCA	0.602		NaN											0	0	0	0.003163	0	15	20				
CRELD1	78987	broad.mit.edu	37	3	9976525	9976525	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9976525G>C	uc003bug.2	+	3	299	c.181G>C	c.(181-183)GAG>CAG	p.E61Q	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.E61Q|CRELD1_uc003buh.2_Missense_Mutation_p.E61Q|CRELD1_uc003bui.2_Missense_Mutation_p.E61Q|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	61	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CCAGGGCCTGGAGAGAACCAT	0.363		NaN											0	0	0	0.001984	0	7	15				
FANCD2	2177	broad.mit.edu	37	3	10106445	10106445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10106445G>C	uc003buw.2	+	23	2132	c.2054G>C	c.(2053-2055)GGA>GCA	p.G685A	FANCD2_uc003bux.1_Missense_Mutation_p.G685A|FANCD2_uc003buy.1_Missense_Mutation_p.G685A|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	685					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCACTGTACGGACTGGAAGAA	0.498		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.007291	0	28	97				
FANCD2	2177	broad.mit.edu	37	3	10107147	10107147	+	Missense_Mutation	SNP	C	C	A	rs35817402		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10107147C>A	uc003buw.2	+	24	2316	c.2238C>A	c.(2236-2238)AAC>AAA	p.N746K	FANCD2_uc003bux.1_Missense_Mutation_p.N746K|FANCD2_uc003buy.1_Missense_Mutation_p.N746K|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	746					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACAGCATAACGGAAACTTGG	0.443		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	2.35188e-11	0.006122	2.48e-11	18	63				
ATP2B2	491	broad.mit.edu	37	3	10400558	10400558	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10400558G>A	uc003bvt.2	-	14	2392	c.1953C>T	c.(1951-1953)CGC>CGT	p.R651R	ATP2B2_uc003bvv.2_Silent_p.R606R|ATP2B2_uc003bvw.2_Silent_p.R606R|ATP2B2_uc010hdo.2_Silent_p.R356R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	651	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTCCCGGTCGCGGGGCCGGA	0.632		NaN											0	0	0	0.013537	0	12	34				
WNT7A	7476	broad.mit.edu	37	3	13916528	13916528	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:13916528C>T	uc003bye.1	-	2	519	c.214G>A	c.(214-216)GAG>AAG	p.E72K		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	72			E -> K (in LPHAS).		activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AACTGACACTCGTCCAGGCCC	0.597		NaN											0	0	0	0.00499	0	18	35				
TOP2B	7155	broad.mit.edu	37	3	25639947	25639947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:25639947C>T	uc003cdj.2	-	36	4717	c.4717G>A	c.(4717-4719)GAT>AAT	p.D1573N	TOP2B_uc011awm.1_Missense_Mutation_p.D430N|TOP2B_uc010hff.1_Missense_Mutation_p.D439N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1578					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GAATCCTGATCAAAAGATGTC	0.383		NaN											0	0	0	0.006122	0	19	15				
ZCWPW2	152098	broad.mit.edu	37	3	28562512	28562512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:28562512G>A	uc003ceh.2	+	9	982	c.814G>A	c.(814-816)GAG>AAG	p.E272K	ZCWPW2_uc003cei.2_Missense_Mutation_p.E272K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E77K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	272							zinc ion binding			ovary(2)	2						TTTACTAAAAGAGCTGGAGCA	0.368		NaN											0	0	0	0.00308	0	8	32				
DALRD3	55152	broad.mit.edu	37	3	49053759	49053759	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:49053759C>G	uc003cvk.1	-	9	1181	c.1161G>C	c.(1159-1161)CTG>CTC	p.L387L	DALRD3_uc003cvl.1_Silent_p.L387L|DALRD3_uc003cvm.1_Silent_p.L220L|DALRD3_uc010hko.1_Silent_p.L220L|DALRD3_uc011bca.1_Silent_p.L387L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	387					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCTGTCAGCCAGAGCCAGGA	0.547		NaN											0	0	0	0.004672	0	3	28				
DUSP7	1849	broad.mit.edu	37	3	52089928	52089928	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52089928G>C	uc003dct.2	-	1	534	c.455C>G	c.(454-456)TCC>TGC	p.S152C	DUSP7_uc010hma.2_Missense_Mutation_p.S152C	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	152	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGAGCACGGAGGCGGGAGC	0.721		NaN											0	0	0	0.004672	0	3	4				
PBRM1	55193	broad.mit.edu	37	3	52598157	52598157	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52598157T>C	uc003des.2	-	23	3796	c.3784A>G	c.(3784-3786)AAT>GAT	p.N1262D	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N1262D|PBRM1_uc003der.2_Missense_Mutation_p.N1230D|PBRM1_uc003det.2_Missense_Mutation_p.N1277D|PBRM1_uc003deu.2_Missense_Mutation_p.N1277D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N1262D|PBRM1_uc010hmk.1_Missense_Mutation_p.N1237D|PBRM1_uc003dey.2_Missense_Mutation_p.N1237D|PBRM1_uc003dez.1_Missense_Mutation_p.N1261D	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1262	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGCTCTCATTGTAGCGGCTC	0.413		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	0.010818	0	34	28				
DCP1A	55802	broad.mit.edu	37	3	53346282	53346282	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:53346282C>T	uc003dgs.3	-	5	592	c.499G>A	c.(499-501)GAG>AAG	p.E167K	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	167					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTCTCATACTCATCCTTGGCT	0.577		NaN											0	0	0	0.008871	0	19	24				
CACNA2D3	55799	broad.mit.edu	37	3	54925415	54925415	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:54925415C>T	uc003dhf.2	+	25	2232	c.2184C>T	c.(2182-2184)CTC>CTT	p.L728L	CACNA2D3_uc003dhg.1_Silent_p.L634L|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	728	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGCCTTCCTCGGCACTCGCA	0.532		NaN											0	0	0	0.012319	0	20	30				
CCDC66	285331	broad.mit.edu	37	3	56598036	56598036	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:56598036G>A	uc003dhz.2	+	4	514	c.427G>A	c.(427-429)GAA>AAA	p.E143K	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E109K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E143K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	143										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CATCACAGCTGAAAACATGAA	0.393		NaN											0	0	0	0.01892	0	23	29				
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:57542432C>T	uc003diw.3	+	1	452	c.326C>T	c.(325-327)TCA>TTA	p.S109L	PDE12_uc003div.2_Missense_Mutation_p.S109L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	109							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657		NaN											0	0	0	0.008871	0	20	12				
PXK	54899	broad.mit.edu	37	3	58368279	58368279	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:58368279G>C	uc003djz.1	+	4	339	c.240G>C	c.(238-240)TTG>TTC	p.L80F	PXK_uc003djx.1_Missense_Mutation_p.L80F|PXK_uc003djy.1_Missense_Mutation_p.L63F|PXK_uc003dka.1_Missense_Mutation_p.L80F|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Missense_Mutation_p.L63F|PXK_uc011bfe.1_Missense_Mutation_p.L47F|PXK_uc010hnj.1_Missense_Mutation_p.L47F|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAAAAAATTGATTGGTAACA	0.343		NaN											0	0	0	0.004482	0	6	48				
GXYLT2	727936	broad.mit.edu	37	3	72957678	72957678	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:72957678G>A	uc003dpg.2	+	2	436	c.436G>A	c.(436-438)GAA>AAA	p.E146K		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	146	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CATCTTCACTGAAGACTCTCT	0.463		NaN											0	0	0	0.012213	0	29	29				
HTR1F	3355	broad.mit.edu	37	3	88040157	88040157	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:88040157A>G	uc003dqr.2	+	2	416	c.258A>G	c.(256-258)AGA>AGG	p.R86R		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	86	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATATTGTGAGAGAGAGCTGGA	0.468		NaN											0	0	0	0.014758	0	5	79				
OR5H15	403274	broad.mit.edu	37	3	97887646	97887646	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:97887646T>G	uc011bgu.1	+	1	103	c.103T>G	c.(103-105)TAT>GAT	p.Y35D		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTGGTAATATATCTCATCAC	0.408		NaN											0	0	0	0.01441	0	135	141				
DRD3	1814	broad.mit.edu	37	3	113847578	113847578	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:113847578C>G	uc003ebd.2	-	8	1611	c.1188G>C	c.(1186-1188)AAG>AAC	p.K396N	DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	396	Cytoplasmic.			K -> L (in Ref. 7; AAH95510).	activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGACAGGATCTTGAGGAAGG	0.527		NaN											0	0	0	0.01441	0	95	169				
CASR	846	broad.mit.edu	37	3	122003997	122003997	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:122003997G>C	uc003eev.3	+	7	3568	c.3196G>C	c.(3196-3198)GGT>CGT	p.G1066R	CASR_uc003eew.3_Missense_Mutation_p.G1076R	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1066	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCATCAGTGGTGGAGGCAG	0.532		NaN											0	0	0	0.016522	0	23	51				
DNAJC13	23317	broad.mit.edu	37	3	132169586	132169586	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:132169586C>G	uc003eor.2	+	6	497	c.432C>G	c.(430-432)ACC>ACG	p.T144T	DNAJC13_uc010htq.1_Silent_p.T144T	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	144							heat shock protein binding			ovary(1)|breast(1)	2						ATCCTGCAACCAACAGAGTAC	0.358		NaN											0	0	0	0.012319	0	21	32				
SMC4	10051	broad.mit.edu	37	3	160137191	160137191	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:160137191A>G	uc003fdh.2	+	12	1830	c.1717A>G	c.(1717-1719)AAA>GAA	p.K573E	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.K337E|SMC4_uc003fdi.2_Missense_Mutation_p.K548E|SMC4_uc003fdj.2_Missense_Mutation_p.K573E|SMC4_uc010hwd.2_Missense_Mutation_p.K573E|SMC4_uc003fdl.2_Missense_Mutation_p.K276E	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	573	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAAACTTTAAAAGTTTGGT	0.308		NaN											0	0	0	0.014323	0	23	55				
TRA2B	6434	broad.mit.edu	37	3	185638917	185638917	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:185638917G>A	uc003fpv.2	-	6	973	c.697C>T	c.(697-699)CGG>TGG	p.R233W	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R133W|TRA2B_uc003fpw.2_Missense_Mutation_p.R233W	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	233	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						TAGTAGTCCCGATCATCATAG	0.428		NaN											0	0	0	0.01441	0	53	39				
TMEM44	93109	broad.mit.edu	37	3	194344402	194344402	+	Missense_Mutation	SNP	C	C	G	rs143204807		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:194344402C>G	uc010hzn.2	-	4	550	c.381G>C	c.(379-381)AAG>AAC	p.K127N	TMEM44_uc003fue.2_Missense_Mutation_p.K127N|TMEM44_uc003fud.2_Missense_Mutation_p.K127N|TMEM44_uc003fuf.2_Missense_Mutation_p.K127N|TMEM44_uc011bsv.1_Missense_Mutation_p.K127N|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	127	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GCCGCCTCCTCTTCCTCTCTC	0.617		NaN											0	0	0	0.006214	0	10	39				
MUC4	4585	broad.mit.edu	37	3	195517279	195517279	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:195517279G>A	uc011bto.1	-	2	1632	c.1172C>T	c.(1171-1173)TCA>TTA	p.S391L	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S273L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	396					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAACACCTTTGATGTTACCAG	0.453		NaN											0	0	0	0.01441	0	104	86				
TACC3	10460	broad.mit.edu	37	4	1739043	1739043	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:1739043A>G	uc003gdo.2	+	9	1932	c.1824A>G	c.(1822-1824)GCA>GCG	p.A608A	TACC3_uc010ibz.2_Silent_p.A608A|TACC3_uc003gdp.2_Silent_p.A248A|TACC3_uc010ica.2_Silent_p.A25A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	608						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCTTGGGAGCACTGGACATTC	0.527		NaN											0	0	0	0.00308	0	7	24				
HTT	3064	broad.mit.edu	37	4	3182340	3182340	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:3182340G>T	uc011bvq.1	+	37	4862	c.4717G>T	c.(4717-4719)GTG>TTG	p.V1573L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1571					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAAAGAGGTGGTGGTGTCAAT	0.453		NaN											1	0	1.61788e-16	0.012213	1.71939e-16	35	34				
ZBTB49	166793	broad.mit.edu	37	4	4301680	4301680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:4301680C>T	uc003ghu.2	+	2	183	c.8C>T	c.(7-9)CCT>CTT	p.P3L	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGCATGGACCCTGTTGCTACC	0.468		NaN											0	0	0	0.009718	0	43	55				
TBC1D14	57533	broad.mit.edu	37	4	6969151	6969151	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:6969151G>A	uc011bwg.1	+	3	922	c.843G>A	c.(841-843)AAG>AAA	p.K281K	TBC1D14_uc003gjs.3_Silent_p.K281K	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	281						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						GAATACAGAAGGTACACAAGA	0.393		NaN											0	0	0	0.016522	0	21	58				
TAPT1	202018	broad.mit.edu	37	4	16164972	16164972	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16164972C>G	uc010ied.1	-	14	1744	c.1663G>C	c.(1663-1665)GAG>CAG	p.E555Q	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.E444Q	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	555						integral to membrane	growth hormone-releasing hormone receptor activity				0						CTGTCTATCTCTAACAAATCT	0.433		NaN											0	0	0	0.012319	0	22	72				
TAPT1	202018	broad.mit.edu	37	4	16175863	16175863	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16175863C>G	uc010ied.1	-	11	1281	c.1200G>C	c.(1198-1200)CGG>CGC	p.R400R	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.R289R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	400						integral to membrane	growth hormone-releasing hormone receptor activity				0						AGCCCATCCTCCGTGCTACAG	0.328		NaN											0	0	0	0.014758	0	5	4				
ANAPC4	29945	broad.mit.edu	37	4	25384988	25384988	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:25384988A>G	uc003gro.2	+	4	470	c.341A>G	c.(340-342)CAT>CGT	p.H114R	ANAPC4_uc003grp.2_5'UTR	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				TCCTGTATGCATTGGATGGAA	0.363		NaN											0	0	0	0.008871	0	18	55				
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:39448239G>A	uc003gua.2	+	4	1990	c.1893G>A	c.(1891-1893)CTG>CTA	p.L631L	KLB_uc011byj.1_Silent_p.L622L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	631	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GTGAGGGGCTGAAGCTTGGCA	0.627		NaN											0	0	0	0.007413	0	20	61				
N4BP2	55728	broad.mit.edu	37	4	40123217	40123217	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:40123217T>C	uc003guy.3	+	9	3824	c.3486T>C	c.(3484-3486)ATT>ATC	p.I1162I	N4BP2_uc010ifq.2_Silent_p.I1082I|N4BP2_uc010ifr.2_Silent_p.I1082I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1162						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGAAAGAAATTATTAGCCAAA	0.378		NaN											0	0	0	0.00632	0	30	73				
YTHDC1	91746	broad.mit.edu	37	4	69182123	69182123	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:69182123T>C	uc003hdx.2	-	16	2221	c.1868A>G	c.(1867-1869)TAT>TGT	p.Y623C	YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	623	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						ATGGTGCTGATAGTAAGGATG	0.448		NaN											0	0	0	0.01441	0	68	72				
ANKRD17	26057	broad.mit.edu	37	4	74124115	74124115	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:74124115C>G	uc003hgp.2	-	1	388	c.271G>C	c.(271-273)GAC>CAC	p.D91H	ANKRD17_uc003hgq.2_Missense_Mutation_p.D91H|ANKRD17_uc003hgr.2_Missense_Mutation_p.D91H	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	91					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ttgtcgctgtcgctgctgcTT	0.403		NaN											0	0	0	0.004007	0	14	37				
SHROOM3	57619	broad.mit.edu	37	4	77670237	77670237	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:77670237G>A	uc011cbx.1	+	6	4774	c.3821G>A	c.(3820-3822)GGA>GAA	p.G1274E	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1052E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1274					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GCTGGTCCTGGATCTAGGTAT	0.423		NaN											0	0	0	0.01441	0	66	60				
PTPN13	5783	broad.mit.edu	37	4	87671723	87671723	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:87671723C>T	uc003hpz.2	+	18	3231	c.2751C>T	c.(2749-2751)CTC>CTT	p.L917L	PTPN13_uc003hpy.2_Silent_p.L917L|PTPN13_uc003hqa.2_Silent_p.L917L|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	917						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCACCCTCAACAAACTTG	0.478		NaN											0	0	0	0.007291	0	30	91				
BANK1	55024	broad.mit.edu	37	4	102946407	102946407	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:102946407G>A	uc003hvy.3	+	9	1609	c.1335G>A	c.(1333-1335)CAG>CAA	p.Q445Q	BANK1_uc003hvx.3_Silent_p.Q430Q|BANK1_uc010ill.2_Silent_p.Q312Q|BANK1_uc003hvz.3_Silent_p.Q415Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	445					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATACGGGCAGAGTGCAGATG	0.463		NaN											0	0	0	0.016522	0	25	64				
SEC24D	9871	broad.mit.edu	37	4	119678896	119678896	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:119678896G>T	uc003ici.3	-	11	1673	c.1401C>A	c.(1399-1401)ACC>ACA	p.T467T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.T468T|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	467					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						TTTCCAGCATGGTCTTCAGTT	0.358		NaN											1	0	2.20262e-25	0.013726	2.41176e-25	33	26				
PCDH10	57575	broad.mit.edu	37	4	134071531	134071531	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:134071531T>C	uc003iha.2	+	1	1062	c.236T>C	c.(235-237)ATA>ACA	p.I79T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.I79T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	79	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGAGAAAATAGACCGCGAA	0.552		NaN											0	0	0	0.005443	0	28	68				
OTUD4	54726	broad.mit.edu	37	4	146071800	146071800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:146071800G>C	uc003ika.3	-	13	1067	c.929C>G	c.(928-930)TCA>TGA	p.S310*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.S309*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	374							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AGGTAGTGCTGATGGGGCTTT	0.423		NaN											0	0	0	0.004007	0	16	70				
TRIM2	23321	broad.mit.edu	37	4	154216911	154216911	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:154216911C>T	uc003ing.2	+	6	1353	c.1152C>T	c.(1150-1152)AAC>AAT	p.N384N	TRIM2_uc003inh.2_Silent_p.N411N	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	384	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCCTGGACAACAAGAACGGCA	0.567		NaN											0	0	0	0.004007	0	15	27				
DCHS2	54798	broad.mit.edu	37	4	155156345	155156345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:155156345C>G	uc003inw.2	-	25	8094	c.8094G>C	c.(8092-8094)GTG>GTC	p.V2698V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2698					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCGGCAGTCACCATCACAT	0.552		NaN											0	0	0	0.012319	0	23	39				
CTSO	1519	broad.mit.edu	37	4	156850779	156850779	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:156850779T>C	uc003ipg.2	-	6	802	c.753A>G	c.(751-753)CAA>CAG	p.Q251Q		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	251					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCAGATAATCTTGCCAGCTCA	0.413		NaN											0	0	0	0.004007	0	16	46				
ADCY2	108	broad.mit.edu	37	5	7707855	7707855	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:7707855G>C	uc003jdz.1	+	9	1372	c.1305G>C	c.(1303-1305)TTG>TTC	p.L435F	ADCY2_uc011cmo.1_Missense_Mutation_p.L255F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	435	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGAGCACTTGAATGGCGCTT	0.408		NaN											0	0	0	0.01441	0	90	56				
SEMA5A	9037	broad.mit.edu	37	5	9119187	9119187	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:9119187C>T	uc003jek.2	-	15	2560	c.1848G>A	c.(1846-1848)CAG>CAA	p.Q616Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	616	TSP type-1 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GCTGCCGCACCTGGAAGCCGA	0.652		NaN											0	0	0	0.00308	0	6	12				
WDR70	55100	broad.mit.edu	37	5	37379640	37379640	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:37379640G>A	uc003jkv.2	+	2	133	c.75G>A	c.(73-75)ATG>ATA	p.M25I	WDR70_uc010iva.1_Missense_Mutation_p.M25I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	25										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCACCATGGGCTTCACGG	0.622		NaN											0	0	0	0.007291	0	30	40				
SFRS12	140890	broad.mit.edu	37	5	65474672	65474672	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:65474672C>G	uc003juo.2	+	13	2163	c.1503C>G	c.(1501-1503)CTC>CTG	p.L501L	SFRS12_uc003jun.2_Silent_p.L617L|SFRS12_uc010iwy.2_Silent_p.L500L	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	501					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		AAGAAAACCTCTCTACCAAAA	0.398		NaN											0	0	0	0.014323	0	22	51				
BDP1	55814	broad.mit.edu	37	5	70818196	70818196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:70818196G>A	uc003kbp.1	+	23	5335	c.5072G>A	c.(5071-5073)AGA>AAA	p.R1691K	BDP1_uc003kbo.2_Missense_Mutation_p.R1691K|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1691					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATTTGGGAAGAGCACACAGT	0.398		NaN											0	0	0	0.01441	0	80	65				
EPB41L4A	64097	broad.mit.edu	37	5	111601977	111601977	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:111601977G>A	uc003kpv.1	-	5	660	c.386C>T	c.(385-387)CCC>CTC	p.P129L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.P129L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	129	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACGGGACAGGGCAGACGGCC	0.453		NaN											0	0	0	0.014758	0	5	6				
SRP19	6728	broad.mit.edu	37	5	112228423	112228423	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:112228423G>A	uc011cvv.1	+	4	1417	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S	SRP19_uc011cvu.1_Missense_Mutation_p.G373S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CTCCTCCTTTGGCAAGAACTC	0.493		NaN											0	0	0	0.00499	0	18	44				
P4HA2	8974	broad.mit.edu	37	5	131530659	131530659	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:131530659T>A	uc003kwh.2	-	14	2061	c.1497A>T	c.(1495-1497)ACA>ACT	p.T499T	P4HA2_uc003kwg.2_Silent_p.T497T|P4HA2_uc003kwi.2_Silent_p.T497T|P4HA2_uc003kwk.2_Silent_p.T497T|P4HA2_uc003kwl.2_Silent_p.T499T|P4HA2_uc003kwj.2_Silent_p.T497T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	499	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CAGCATGTCTTGTTCGGTAGT	0.532		NaN											0	0	0	0.010504	0	21	49				
KDM3B	51780	broad.mit.edu	37	5	137750823	137750823	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:137750823A>G	uc003lcy.1	+	12	3402	c.3202A>G	c.(3202-3204)ACA>GCA	p.T1068A	KDM3B_uc010jew.1_Missense_Mutation_p.T724A|KDM3B_uc011cys.1_Missense_Mutation_p.T100A	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1068					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TATTTCAGAGACAGAAGAGAT	0.413		NaN											0	0	0	0.010729	0	10	37				
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140553173G>A	uc003lit.2	+	1	931	c.757G>A	c.(757-759)GAA>AAA	p.E253K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	253	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517		NaN											0	0	0	0.016522	0	22	63				
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140720625C>T	uc003ljk.1	+	1	2272	c.2087C>T	c.(2086-2088)GCG>GTG	p.A696V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A696V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672		NaN											0	0	0	0.001168	0	6	151				
SLC6A7	6534	broad.mit.edu	37	5	149588987	149588987	+	Missense_Mutation	SNP	C	C	T	rs144483863	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:149588987C>T	uc003lrr.2	+	14	2091	c.1720C>T	c.(1720-1722)CGG>TGG	p.R574W		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	574	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACAGGCCAGCCGGCCGGCCAT	0.622		NaN											0	0	0	0.004007	0	15	44				
ANXA6	309	broad.mit.edu	37	5	150483166	150483166	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:150483166C>T	uc003ltl.1	-	25	2079	c.1927G>A	c.(1927-1929)GAG>AAG	p.E643K	ANXA6_uc011dcp.1_Missense_Mutation_p.E611K|ANXA6_uc003ltm.1_Missense_Mutation_p.E637K|ANXA6_uc003ltn.1_Missense_Mutation_p.E430K|ANXA6_uc003lto.1_Missense_Mutation_p.E230K	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	643	Annexin 8.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATATTTCTCAATGAATTCC	0.507		NaN											0	0	0	0.001984	0	7	15				
EBF1	1879	broad.mit.edu	37	5	158223455	158223455	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:158223455C>T	uc010jip.2	-	9	1109	c.807G>A	c.(805-807)CCG>CCA	p.P269P	EBF1_uc011ddw.1_Silent_p.P137P|EBF1_uc011ddx.1_Silent_p.P270P|EBF1_uc003lxl.3_Silent_p.P238P	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	269	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCACTCGGGCTGATGG	0.463		NaN	T	HMGA2	lipoma								0	0	0	0.008361	0	30	7				
F12	2161	broad.mit.edu	37	5	176831360	176831360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:176831360C>T	uc003mgo.3	-	9	904	c.855G>A	c.(853-855)CTG>CTA	p.L285L	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	285	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCCAGCTCAGCCGGTCGC	0.697		NaN							Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006122	0	19	4				
TRIM38	10475	broad.mit.edu	37	6	25967107	25967107	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:25967107A>G	uc003nfm.2	+	3	792	c.357A>G	c.(355-357)CCA>CCG	p.P119P	TRIM38_uc003nfn.2_Silent_p.P119P	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	119	B box-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						AGCGGGCACCACAGCACAAAG	0.557		NaN											0	0	0	0.00245	0	13	81				
HIST1H4D	8360	broad.mit.edu	37	6	26189297	26189297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:26189297C>G	uc003ngu.2	-	1	8	c.8G>C	c.(7-9)GGC>GCC	p.G3A		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	3					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				CTTACCGCGGCCAGACATCTT	0.512		NaN											0	0	0	0.01441	0	82	39				
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:28265744G>A	uc003nky.2	+	6	1215	c.845G>A	c.(844-846)GGA>GAA	p.G282E	PGBD1_uc003nkz.2_Missense_Mutation_p.G282E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						GAACAAAGTGGAGAAGCCTCA	0.353		NaN											0	0	0	0.004482	0	9	76				
MDC1	9656	broad.mit.edu	37	6	30673833	30673833	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:30673833G>A	uc003nrg.3	-	10	3567	c.3127C>T	c.(3127-3129)CCT>TCT	p.P1043S	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P650S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1043	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GGGGCTTCAGGTACTGTAGGA	0.532		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.013114	0	46	36				
B3GALT4	8705	broad.mit.edu	37	6	33246314	33246314	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33246314T>A	uc003odr.2	+	1	1398	c.1118T>A	c.(1117-1119)ATA>AAA	p.I373K		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	373	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						TGTCGAGCAATAGCCTGGCTT	0.637		NaN											0	0	0	0.008871	0	19	121				
ITPR3	3710	broad.mit.edu	37	6	33636829	33636829	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33636829G>T	uc011drk.1	+	18	2304	c.2085G>T	c.(2083-2085)ACG>ACT	p.T695T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	695	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGTGGCTCACGTGGACTGACA	0.587		NaN											1	0	8.34094e-07	0.008871	8.62746e-07	21	83				
UHRF1BP1	54887	broad.mit.edu	37	6	34791100	34791100	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:34791100C>A	uc003oju.3	+	4	547	c.313C>A	c.(313-315)CCC>ACC	p.P105T	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	105										ovary(3)	3						TGGACAGTCTCCCATTGCCCT	0.413		NaN											1	0	1.19451e-25	0.01441	1.31058e-25	46	211				
C6orf222	389384	broad.mit.edu	37	6	36287297	36287297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36287297C>G	uc003oly.2	-	11	1937	c.1759G>C	c.(1759-1761)GCT>CCT	p.A587P		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	587										skin(2)|ovary(1)|breast(1)	4						GAGGAGTGAGCCACCTGGCTG	0.552		NaN											0	0	0	0.01441	0	74	24				
STK38	11329	broad.mit.edu	37	6	36492140	36492140	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36492140A>G	uc003omg.2	-	3	872	c.284T>C	c.(283-285)ATA>ACA	p.I95T	STK38_uc003omh.2_Missense_Mutation_p.I95T|STK38_uc003omi.2_Missense_Mutation_p.I95T	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	95	Protein kinase.|ATP (By similarity).				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TCCTCTGCCTATTACTTTTAA	0.378		NaN											0	0	0	0.01441	0	96	24				
TBC1D22B	55633	broad.mit.edu	37	6	37280749	37280749	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:37280749C>T	uc003onn.2	+	9	1184	c.1038C>T	c.(1036-1038)AGC>AGT	p.S346S	TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003ono.1_Silent_p.S4S|TBC1D22B_uc003onp.2_Silent_p.S4S	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	346	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGCTGCGAAGCATTGAGGCTG	0.478		NaN											0	0	0	0.01441	0	98	20				
CD2AP	23607	broad.mit.edu	37	6	47512341	47512341	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47512341G>A	uc003oyw.2	+	4	776	c.320_splice	c.e4-1	p.K107_splice		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACTTTCTTTAGAGACCAAGAA	0.289		NaN											0	0	0	0.004007	0	17	84				
GPR115	221393	broad.mit.edu	37	6	47682609	47682609	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47682609A>G	uc003oza.1	+	6	1886	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	GPR115_uc003oyz.1_Missense_Mutation_p.Y600C|GPR115_uc003ozb.1_Missense_Mutation_p.Y541C	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	543	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GAGAAAGGCTACATGAGACCT	0.483		NaN											0	0	0	0.01441	0	147	84				
DDX43	55510	broad.mit.edu	37	6	74104758	74104758	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:74104758A>G	uc003pgw.2	+	1	474	c.130A>G	c.(130-132)AGT>GGT	p.S44G	OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	44						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						TGAGGGATATAGTGTCGGCAG	0.627		NaN									OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.01441	0	67	22				
IRAK1BP1	134728	broad.mit.edu	37	6	79577521	79577521	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:79577521C>T	uc003pim.2	+	1	333	c.228C>T	c.(226-228)AGC>AGT	p.S76S	IRAK1BP1_uc010kbg.1_RNA	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	76	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GAGTGAGCAGCACCAAGGAGG	0.627		NaN											0	0	0	0.007413	0	19	4				
BACH2	60468	broad.mit.edu	37	6	90660532	90660532	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:90660532C>T	uc011eab.1	-	7	2102	c.1293G>A	c.(1291-1293)GTG>GTA	p.V431V	BACH2_uc003pnw.2_Silent_p.V431V|BACH2_uc010kch.2_Silent_p.V431V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	431						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGAAGATCACGCTCCTCC	0.592		NaN											0	0	0	0.01441	0	59	14				
ASCC3	10973	broad.mit.edu	37	6	101037582	101037582	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:101037582A>T	uc003pqk.2	-	36	5807	c.5478T>A	c.(5476-5478)CAT>CAA	p.H1826Q		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1826	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAACTGTTTGATGCTTCAAAT	0.348		NaN											0	0	0	0.01441	0	89	36				
BEND3	57673	broad.mit.edu	37	6	107390828	107390828	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:107390828C>T	uc003prs.2	-	5	2217	c.1567G>A	c.(1567-1569)GGT>AGT	p.G523S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	523										ovary(3)	3						GAGCGGCGACCCGGCCGCTCG	0.637		NaN											0	0	0	0.005443	0	26	9				
REV3L	5980	broad.mit.edu	37	6	111714085	111714085	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:111714085A>G	uc003puy.3	-	5	979	c.656T>C	c.(655-657)ATA>ACA	p.I219T	REV3L_uc003pux.3_Missense_Mutation_p.I141T|REV3L_uc003puz.3_Missense_Mutation_p.I141T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	219					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACCTTGGTATTTCATCTTG	0.313		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.006999	0	40	17				
NCOA7	135112	broad.mit.edu	37	6	126236524	126236524	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:126236524C>G	uc010kes.2	+	13	2591	c.2142C>G	c.(2140-2142)GTC>GTG	p.V714V	NCOA7_uc003qae.3_Silent_p.V714V|NCOA7_uc003qah.2_Silent_p.V703V|NCOA7_uc003qai.2_Silent_p.V714V|NCOA7_uc010ket.2_Silent_p.V599V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	714					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTCCCGATGTCTATGGAAAAG	0.453		NaN											0	0	0	0.01441	0	81	28				
TMEM181	57583	broad.mit.edu	37	6	159052852	159052852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159052852G>A	uc003qrm.3	+	17	1782	c.1771G>A	c.(1771-1773)GAG>AAG	p.E591K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	591					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGTGACTATGAGGAAATGCC	0.537		NaN											0	0	0	0.001168	0	6	4				
FNDC1	84624	broad.mit.edu	37	6	159657323	159657323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159657323C>G	uc010kjv.2	+	12	4244	c.4044C>G	c.(4042-4044)ATC>ATG	p.I1348M	FNDC1_uc010kjw.1_Missense_Mutation_p.I1233M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1348						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGAATTATCAATGGCCCTC	0.393		NaN											0	0	0	0.004007	0	16	19				
FBXL18	80028	broad.mit.edu	37	7	5529800	5529800	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:5529800A>T	uc003soo.2	-	5	2138	c.2044T>A	c.(2044-2046)TTG>ATG	p.L682M	FBXL18_uc003son.3_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	682										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCTTCTCGCAACTCTGTGAAC	0.647		NaN											0	0	0	0.00499	0	16	24				
ICA1	3382	broad.mit.edu	37	7	8198209	8198209	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:8198209A>T	uc003srm.2	-	7	720	c.653T>A	c.(652-654)CTT>CAT	p.L218H	ICA1_uc010ktr.2_Missense_Mutation_p.L218H|ICA1_uc003srl.2_Missense_Mutation_p.L206H|ICA1_uc003srn.3_Missense_Mutation_p.L144H|ICA1_uc003srp.3_Missense_Mutation_p.L217H|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L218H|ICA1_uc003srr.2_Missense_Mutation_p.L217H|ICA1_uc003sro.3_Missense_Mutation_p.L218H|ICA1_uc011jxg.1_Missense_Mutation_p.L218H|ICA1_uc003srs.1_Missense_Mutation_p.L218H	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	218	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.L218F(1)		central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CGCTCCAAGAAGATCCACTTT	0.373		NaN											0	0	0	0.01441	0	58	80				
ISPD	729920	broad.mit.edu	37	7	16415851	16415851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:16415851G>A	uc010ktx.2	-	3	550	c.550C>T	c.(550-552)CGA>TGA	p.R184*	ISPD_uc010kty.2_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	184					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						ACAAGAGGTCGAATGGCTCCT	0.433		NaN								Multiple Myeloma(15;0.18)			0	0	0	0.008291	0	8	47				
NFE2L3	9603	broad.mit.edu	37	7	26225326	26225326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:26225326G>A	uc003sxq.2	+	4	2280	c.2008G>A	c.(2008-2010)GGA>AGA	p.G670R		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	670					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						TACCCATGATGGAAGTATCTT	0.423		NaN											0	0	0	0.01441	0	56	88				
AKAP9	10142	broad.mit.edu	37	7	91712680	91712680	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:91712680T>G	uc003ulg.2	+	33	8582	c.8357T>G	c.(8356-8358)CTG>CGG	p.L2786R	AKAP9_uc003ulf.2_Missense_Mutation_p.L2778R|AKAP9_uc003uli.2_Missense_Mutation_p.L2409R|AKAP9_uc003ulj.2_Missense_Mutation_p.L556R|AKAP9_uc003ulk.2_Missense_Mutation_p.L61R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2798					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATGGGACTCTGAAGATCAGT	0.393		NaN	T	BRAF	papillary thyroid								0	0	0	0.004878	0	37	54				
PEX1	5189	broad.mit.edu	37	7	92118691	92118691	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:92118691G>A	uc003uly.2	-	23	3779	c.3683C>T	c.(3682-3684)GCT>GTT	p.A1228V	PEX1_uc011khr.1_Missense_Mutation_p.A1020V|PEX1_uc010ley.2_Missense_Mutation_p.A1171V|PEX1_uc011khs.1_Missense_Mutation_p.A906V	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1228					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTGACTAATAGCCAGTCTGGT	0.363		NaN											0	0	0	0.00499	0	18	24				
TRRAP	8295	broad.mit.edu	37	7	98495469	98495469	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:98495469G>C	uc003upp.2	+	8	822	c.613G>C	c.(613-615)GAG>CAG	p.E205Q	TRRAP_uc011kis.1_Missense_Mutation_p.E205Q|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	205					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGGAGCGTGAGGACAGTGA	0.468		NaN											0	0	0	0.016522	0	23	118				
SYPL1	6856	broad.mit.edu	37	7	105752637	105752637	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:105752637G>A	uc003vdp.2	-	2	154	c.72C>T	c.(70-72)ATC>ATT	p.I24I	SYPL1_uc003vdo.2_Silent_p.I6I	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	24	Cytoplasmic (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						GGTTGAGGTTGATCTGGAAGC	0.507		NaN											0	0	0	0.013537	0	10	13				
COG5	10466	broad.mit.edu	37	7	107194757	107194757	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:107194757G>C	uc003ved.2	-	3	883	c.358C>G	c.(358-360)CAA>GAA	p.Q120E	COG5_uc003vec.2_Missense_Mutation_p.Q120E|COG5_uc003vee.2_Missense_Mutation_p.Q120E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	120					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CCAGTTGCTTGTGCCAGTAAA	0.299		NaN											0	0	0	0.012319	0	20	27				
UBE3C	9690	broad.mit.edu	37	7	156979626	156979626	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:156979626G>T	uc010lqs.2	+	10	1554	c.1242G>T	c.(1240-1242)AGG>AGT	p.R414S	UBE3C_uc003wnf.2_Missense_Mutation_p.R371S|UBE3C_uc003wng.2_Missense_Mutation_p.R414S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	414					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGGTGTGGAGGGACTCTGCGA	0.562		NaN											1	0	0.00909568	0.009096	0.00914631	4	46				
PPP1R3B	79660	broad.mit.edu	37	8	8998903	8998903	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:8998903C>G	uc003wsn.3	-	2	424	c.259G>C	c.(259-261)GAT>CAT	p.D87H	PPP1R3B_uc003wso.3_Missense_Mutation_p.D86H	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	87					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AATGGCATATCTAGCGGGTCA	0.517		NaN											0	0	0	0.004878	0	36	66				
PPP3CC	5533	broad.mit.edu	37	8	22355531	22355531	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:22355531G>T	uc003xbs.2	+	4	717	c.390G>T	c.(388-390)TGG>TGT	p.W130C	PPP3CC_uc003xbr.1_Missense_Mutation_p.W130C|PPP3CC_uc011kzi.1_Missense_Mutation_p.W130C|PPP3CC_uc003xbt.2_Missense_Mutation_p.W130C	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	130					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATTTATGGAGTTTAAAGA	0.249		NaN											1	0	1.49906e-05	0.00245	1.54466e-05	13	23				
FGFR1	2260	broad.mit.edu	37	8	38279401	38279401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:38279401G>A	uc003xlp.2	-	8	1937	c.995C>T	c.(994-996)TCC>TTC	p.S332F	FGFR1_uc011lbo.1_Missense_Mutation_p.S330F|FGFR1_uc011lbp.1_Missense_Mutation_p.S243F|FGFR1_uc011lbq.1_Missense_Mutation_p.S241F|FGFR1_uc010lwk.2_Missense_Mutation_p.S324F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S172F|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.S363F|FGFR1_uc011lbv.1_Missense_Mutation_p.S330F|FGFR1_uc011lbw.1_Missense_Mutation_p.S243F|FGFR1_uc011lbx.1_Missense_Mutation_p.S243F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	332	Ig-like C2-type 3.|Extracellular (Potential).		S -> C (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTCCTCAAAGGAGACATTTCT	0.488		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	0.004482	0	9	37				
PRKDC	5591	broad.mit.edu	37	8	48771464	48771464	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:48771464C>T	uc003xqi.2	-	48	6348	c.6291G>A	c.(6289-6291)CTG>CTA	p.L2097L	PRKDC_uc003xqj.2_Silent_p.L2097L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2097					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGGCCGTCAGGGGCGCCA	0.577		NaN						NHEJ					0	0	0	0.009096	0	4	83				
CHD7	55636	broad.mit.edu	37	8	61749497	61749497	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:61749497T>G	uc003xue.2	+	17	4588	c.4111T>G	c.(4111-4113)TTA>GTA	p.L1371V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCAGGAGGTTTAGGCATTAA	0.488		NaN											0	0	0	0.010818	0	33	95		Valid		
UQCRB	7381	broad.mit.edu	37	8	97244136	97244136	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:97244136C>T	uc003yhq.3	-	3	228	c.124G>A	c.(124-126)GAA>AAA	p.E42K	UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	42					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)					TTTACATCTTCATCCTCGTAT	0.363		NaN											0	0	0	0.009535	0	32	35				
RIMS2	9699	broad.mit.edu	37	8	104897639	104897639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:104897639C>G	uc003yls.2	+	2	387	c.146C>G	c.(145-147)TCA>TGA	p.S49*	RIMS2_uc003ylp.2_Nonsense_Mutation_p.S271*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.S79*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	302					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATCTCCATCAGATTATGCT	0.418		NaN								HNSCC(12;0.0054)			0	0	0	0.008871	0	19	55				
ADCY8	114	broad.mit.edu	37	8	131896844	131896844	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:131896844G>A	uc003ytd.3	-	8	2331	c.2075C>T	c.(2074-2076)TCA>TTA	p.S692L	ADCY8_uc010mds.2_Missense_Mutation_p.S692L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	692	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAACATCAGTGAGAATGGCTT	0.458		NaN								HNSCC(32;0.087)			0	0	0	0.013114	0	47	71				
PLEC	5339	broad.mit.edu	37	8	144992514	144992514	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:144992514C>G	uc003zaf.1	-	32	12056	c.11886G>C	c.(11884-11886)CAG>CAC	p.Q3962H	PLEC_uc003zab.1_Missense_Mutation_p.Q3825H|PLEC_uc003zac.1_Missense_Mutation_p.Q3829H|PLEC_uc003zad.2_Missense_Mutation_p.Q3825H|PLEC_uc003zae.1_Missense_Mutation_p.Q3793H|PLEC_uc003zag.1_Missense_Mutation_p.Q3803H|PLEC_uc003zah.2_Missense_Mutation_p.Q3811H|PLEC_uc003zaj.2_Missense_Mutation_p.Q3852H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3962	Globular 2.|Plectin 20.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTAGCCACGCTGGTAAGCCA	0.682		NaN											0	0	0	0.004672	0	3	5				
CYC1	1537	broad.mit.edu	37	8	145152190	145152190	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:145152190A>G	uc003zaz.3	+	7	972	c.929A>G	c.(928-930)AAG>AGG	p.K310R	CYC1_uc003zay.2_Missense_Mutation_p.K251R	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	310					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCGGCACAAGTGGTCAGTC	0.582		NaN											0	0	0	0.006122	0	19	25				
RANBP6	26953	broad.mit.edu	37	9	6014801	6014801	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6014801C>T	uc003zjr.2	-	1	818	c.807G>A	c.(805-807)TTG>TTA	p.L269L	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	269					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACTTCAAACTCAACTGTAGAG	0.448		NaN											0	0	0	0.017118	0	37	59				
KDM4C	23081	broad.mit.edu	37	9	6893118	6893118	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6893118C>T	uc003zkh.2	+	8	1387	c.807C>T	c.(805-807)TTC>TTT	p.F269F	KDM4C_uc010mhu.2_Silent_p.F291F|KDM4C_uc010mhw.2_Silent_p.F269F|KDM4C_uc011lmi.1_Silent_p.F269F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.F269F|KDM4C_uc011lmk.1_Silent_p.F88F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	269	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CTGGAGAATTCATGATCACTT	0.338		NaN											0	0	0	0.01441	0	48	56				
PTPRD	5789	broad.mit.edu	37	9	8460538	8460538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:8460538C>T	uc003zkk.2	-	32	4459	c.3748G>A	c.(3748-3750)GTG>ATG	p.V1250M	PTPRD_uc003zkp.2_Missense_Mutation_p.V839M|PTPRD_uc003zkq.2_Missense_Mutation_p.V839M|PTPRD_uc003zkr.2_Missense_Mutation_p.V834M|PTPRD_uc003zks.2_Missense_Mutation_p.V829M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1241M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1237M|PTPRD_uc003zkn.2_Missense_Mutation_p.V839M|PTPRD_uc003zko.2_Missense_Mutation_p.V836M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1250	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTGACACCACGGGGTCGGAG	0.433		NaN								TSP Lung(15;0.13)			0	0	0	0.012319	0	20	37				
MPDZ	8777	broad.mit.edu	37	9	13109990	13109990	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:13109990G>C	uc010mhy.2	-	43	5867	c.5816C>G	c.(5815-5817)ACT>AGT	p.T1939S	MPDZ_uc003zkx.3_Missense_Mutation_p.T163S|MPDZ_uc003zky.3_Missense_Mutation_p.T502S|MPDZ_uc010mib.2_Missense_Mutation_p.T673S|MPDZ_uc010mhx.2_Missense_Mutation_p.T790S|MPDZ_uc011lmm.1_Missense_Mutation_p.T827S|MPDZ_uc003zkz.3_Missense_Mutation_p.T661S|MPDZ_uc010mhz.2_Missense_Mutation_p.T1935S|MPDZ_uc011lmn.1_Missense_Mutation_p.T1906S|MPDZ_uc003zlb.3_Missense_Mutation_p.T1939S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1968					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCAGCCCAGTGAAAGAAAG	0.453		NaN											0	0	0	0.010729	0	12	22				
NFIB	4781	broad.mit.edu	37	9	14307393	14307393	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:14307393C>T	uc003zle.2	-	2	592	c.157G>A	c.(157-159)GAA>AAA	p.E53K	NFIB_uc003zlf.2_Missense_Mutation_p.E53K|NFIB_uc011lmo.1_Missense_Mutation_p.E53K	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	53	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCTCTTTCTTCATCCTTTGAC	0.448		NaN	T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								0	0	0	0.001984	0	7	66				
DNAJB5	25822	broad.mit.edu	37	9	34997058	34997058	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:34997058C>A	uc003zvt.2	+	4	987	c.849C>A	c.(847-849)ATC>ATA	p.I283I	DNAJB5_uc003zvs.2_Silent_p.I317I|DNAJB5_uc011los.1_Silent_p.I355I	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	283					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCCCACTATCGACGGCCGAG	0.557		NaN											1	0	1.41504e-22	0.011902	1.54006e-22	41	199				
C9orf85	138241	broad.mit.edu	37	9	74526714	74526714	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:74526714T>A	uc004ain.2	+	1	292	c.64T>A	c.(64-66)TTC>ATC	p.F22I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	22											0						TACGTTTAGCTTCAAAAATGA	0.532		NaN											0	0	0	0.008361	0	32	150				
ALDH1A1	216	broad.mit.edu	37	9	75533668	75533668	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:75533668T>G	uc004ajd.2	-	8	871	c.818A>C	c.(817-819)AAG>ACG	p.K273T	ALDH1A1_uc011lsh.1_Missense_Mutation_p.K194T|ALDH1A1_uc011lsg.1_Missense_Mutation_p.K99T	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	273					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAGGGCTCTTTCCTCCAAG	0.468		NaN											0	0	0	0.017118	0	35	63				
GKAP1	80318	broad.mit.edu	37	9	86395319	86395319	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:86395319T>C	uc004amy.2	-	7	1059	c.563A>G	c.(562-564)GAT>GGT	p.D188G	GKAP1_uc004amz.2_Missense_Mutation_p.D188G|GKAP1_uc011lsu.1_RNA	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	188					signal transduction	Golgi apparatus					0						ACTAATGTGATCTGTAAATGA	0.244		NaN											0	0	0	0.016723	0	13	40				
ZCCHC6	79670	broad.mit.edu	37	9	88967636	88967636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:88967636G>C	uc004aoq.2	-	2	694	c.479C>G	c.(478-480)ACA>AGA	p.T160R	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aou.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aov.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aow.2_Missense_Mutation_p.T160R|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T160R	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	160					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTCTAGGCTTGTTAGGTCTTT	0.408		NaN											0	0	0	0.01441	0	52	126				
SECISBP2	79048	broad.mit.edu	37	9	91963047	91963047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:91963047G>A	uc004aqj.1	+	12	1736	c.1656G>A	c.(1654-1656)GTG>GTA	p.V552V	SECISBP2_uc011ltk.1_Silent_p.V551V|SECISBP2_uc004aqk.1_Silent_p.V479V|SECISBP2_uc010mqo.1_Silent_p.V257V|SECISBP2_uc011ltl.1_Silent_p.V484V	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	552					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AAAATGCTGTGAGTCCAGCTT	0.388		NaN											0	0	0	0.016723	0	14	59				
FANCC	2176	broad.mit.edu	37	9	97887396	97887396	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:97887396A>C	uc004avh.2	-	10	1230	c.968T>G	c.(967-969)GTA>GGA	p.V323G	FANCC_uc004avi.3_Missense_Mutation_p.V323G|uc004avj.2_5'Flank	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	323					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				CAGAGCTTCTACAAAGCACTG	0.438		NaN	D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.009096	0	4	35				
TRIM14	9830	broad.mit.edu	37	9	100862212	100862212	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:100862212C>T	uc004ayd.2	-	3	555	c.537_splice	c.e3+1	p.Q179_splice	TRIM14_uc004ayf.1_Splice_Site_p.Q86_splice|TRIM14_uc004ayg.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayh.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayi.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayj.1_Splice_Site_p.Q86_splice	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha							cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCCAGCATTACCTGAAGCCTC	0.502		NaN											0	0	0	0.005443	0	29	21				
OR13C2	392376	broad.mit.edu	37	9	107367139	107367139	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:107367139A>G	uc011lvq.1	-	1	770	c.770T>C	c.(769-771)TTC>TCC	p.F257S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CATGTACATGAAGAGGATGGT	0.438		NaN											0	0	0	0.010818	0	34	89				
SVEP1	79987	broad.mit.edu	37	9	113171084	113171084	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:113171084T>C	uc010mtz.2	-	38	7133	c.6796A>G	c.(6796-6798)AAA>GAA	p.K2266E	SVEP1_uc010mty.2_Missense_Mutation_p.K192E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2266	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGGGGAGGTTTTCCACAGTCG	0.488		NaN											0	0	0	0.005524	0	37	123				
KIAA0368	23392	broad.mit.edu	37	9	114246813	114246813	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:114246813G>T	uc004bfe.1	-	2	100	c.100C>A	c.(100-102)CAG>AAG	p.Q34K	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			KIAA0368 protein												0						GGAGGTGGCTGGTGCTCCCAA	0.622		NaN											1	0	1.06961e-07	0.00308	1.11059e-07	8	22				
CDK5RAP2	55755	broad.mit.edu	37	9	123163060	123163060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:123163060G>A	uc004bkf.2	-	35	5592	c.5411C>T	c.(5410-5412)TCA>TTA	p.S1804L	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S813L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1089L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1725L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1574L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1804	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTCGGGGAGTGAGACTCTCCA	0.587		NaN											0	0	0	0.006999	0	41	45				
RC3H2	54542	broad.mit.edu	37	9	125613386	125613386	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:125613386C>G	uc010mwc.1	-	20	3595	c.3354G>C	c.(3352-3354)CAG>CAC	p.Q1118H	uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	1118						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CACCTAAACTCTGTTTCTTCT	0.383		NaN											0	0	0	0.01441	0	46	147				
TBC1D13	54662	broad.mit.edu	37	9	131568173	131568173	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568173C>T	uc010myj.2	+	10	1077	c.954C>T	c.(952-954)TTC>TTT	p.F318F	TBC1D13_uc010myk.2_Silent_p.F193F|TBC1D13_uc010myl.2_Silent_p.F137F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	318	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						TCTTTGCCTTCCGCTGGCTGA	0.607		NaN											0	0	0	0.00499	0	16	13				
TBC1D13	54662	broad.mit.edu	37	9	131568242	131568242	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568242C>G	uc010myj.2	+	10	1146	c.1023C>G	c.(1021-1023)CTC>CTG	p.L341L	TBC1D13_uc010myk.2_Silent_p.L216L|TBC1D13_uc010myl.2_Silent_p.L160L	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	341	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						GGGACTCCCTCTTCGCCGATG	0.582		NaN											0	0	0	0.00499	0	17	27				
LRRC8A	56262	broad.mit.edu	37	9	131670865	131670865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131670865G>A	uc004bwl.3	+	3	1676	c.1422G>A	c.(1420-1422)CTG>CTA	p.L474L	LRRC8A_uc010myp.2_Silent_p.L474L|LRRC8A_uc010myq.2_Silent_p.L474L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	474	LRR 5.				pre-B cell differentiation	integral to membrane					0						TCAAGGAGCTGTGGCTCTACC	0.622		NaN											0	0	0	0.014758	0	5	29				
ASS1	445	broad.mit.edu	37	9	133370345	133370345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133370345C>G	uc004bzm.2	+	14	1418	c.1062C>G	c.(1060-1062)CTC>CTG	p.L354L	ASS1_uc004bzn.2_Silent_p.L354L|ASS1_uc010mza.2_Silent_p.L430L|ASS1_uc004bzo.2_Silent_p.L335L|ASS1_uc010mzb.2_Silent_p.L392L|ASS1_uc004bzp.2_Silent_p.L354L|ASS1_uc010mzc.2_Silent_p.L354L	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	354					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTCCGTCCTCAAGGGCCAGG	0.592		NaN											0	0	0	0.008291	0	11	30				
ABL1	25	broad.mit.edu	37	9	133738201	133738201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133738201C>T	uc004bzw.2	+	4	604	c.601C>T	c.(601-603)CAT>TAT	p.H201Y	ABL1_uc004bzv.2_Missense_Mutation_p.H220Y|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	201	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTTGGTTCATCATCATTCAAC	0.567		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.010504	0	22	47				
BAT2L1	84726	broad.mit.edu	37	9	134308042	134308042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:134308042G>A	uc004can.3	+	2	209	c.154G>A	c.(154-156)GCT>ACT	p.A52T	BAT2L1_uc004cam.1_Missense_Mutation_p.A52T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	52							protein binding				0						TGGGAAAGTTGCTGCAGCCCG	0.522		NaN											0	0	0	0.00499	0	17	55				
C9orf96	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136253248C>T	uc004cdk.2	+	5	373	c.312C>T	c.(310-312)CTC>CTT	p.L104L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	104	Protein kinase.						ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572		NaN											0	0	0	0.01892	0	23	25				
SARDH	1757	broad.mit.edu	37	9	136599158	136599158	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136599158C>T	uc004cep.3	-	2	272	c.138G>A	c.(136-138)CTG>CTA	p.L46L	SARDH_uc004ceo.2_Silent_p.L46L|SARDH_uc011mdn.1_Silent_p.L46L|SARDH_uc011mdo.1_Intron	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	46					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCTCCTTCAGGGTCCGCT	0.692		NaN											0	0	0	0.010729	0	11	29				
COL5A1	1289	broad.mit.edu	37	9	137711985	137711985	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:137711985C>A	uc004cfe.2	+	58	4852	c.4470C>A	c.(4468-4470)CTC>CTA	p.L1490L	uc004cff.2_RNA	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1490	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGATCGGGCTCATCGGTCCTC	0.637		NaN											1	0	3.08376e-08	0.01892	3.21423e-08	22	62				
SFRS17A	8227	broad.mit.edu	37	X	1719917	1719917	+	Missense_Mutation	SNP	C	C	A	rs149256056	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:1719917C>A	uc004cqa.2	+	5	1714	c.1518C>A	c.(1516-1518)GAC>GAA	p.D506E	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	506					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAGGCCGACGGCGCTCCCA	0.716		NaN											1	0	0.00621372	0.006214	0.00627157	9	32				
VCX	26609	broad.mit.edu	37	X	7811787	7811787	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:7811787G>A	uc004crz.2	+	3	570	c.351G>A	c.(349-351)GAG>GAA	p.E117E		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	117	2.|10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGAGTCAGGAGAGCGAGGTGG	0.637		NaN											0	0	0	0.01441	0	95	48				
KAL1	3730	broad.mit.edu	37	X	8538598	8538598	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:8538598A>G	uc004csf.2	-	7	1154	c.1004T>C	c.(1003-1005)ATG>ACG	p.M335T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	335	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						ACTGCTGACCATCCAGCTCCA	0.517		NaN											0	0	0	0.003163	0	14	4				
KLHL15	80311	broad.mit.edu	37	X	24006301	24006301	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24006301C>T	uc004dba.3	-	4	1808	c.1552G>A	c.(1552-1554)GAG>AAG	p.E518K		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	518	Kelch 4.									ovary(1)|breast(1)	2						TGATCAGTCTCTGGGTTGTAT	0.478		NaN											0	0	0	0.01441	0	110	28				
EIF2S3	1968	broad.mit.edu	37	X	24084129	24084129	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24084129G>C	uc004dbc.2	+	8	808	c.787G>C	c.(787-789)GAT>CAT	p.D263H		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	263						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						TAGATCTTTTGATGTCAACAA	0.308		NaN											0	0	0	0.004656	0	27	46				
TAB3	257397	broad.mit.edu	37	X	30873457	30873457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:30873457G>A	uc004dcj.2	-	6	988	c.325C>T	c.(325-327)CCT>TCT	p.P109S	TAB3_uc004dck.2_Missense_Mutation_p.P109S|TAB3_uc010ngl.2_Missense_Mutation_p.P109S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	109					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GCATGCTGAGGATCAATATGT	0.453		NaN											0	0	0	0.008361	0	31	5				
DMD	1756	broad.mit.edu	37	X	32382783	32382783	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:32382783G>T	uc004dda.1	-	36	5314	c.5070C>A	c.(5068-5070)CAC>CAA	p.H1690Q	DMD_uc004dcw.2_Missense_Mutation_p.H346Q|DMD_uc004dcx.2_Missense_Mutation_p.H349Q|DMD_uc004dcz.2_Missense_Mutation_p.H1567Q|DMD_uc004dcy.1_Missense_Mutation_p.H1686Q|DMD_uc004ddb.1_Missense_Mutation_p.H1682Q|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1690	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTTGTGATGTGGTCCACAT	0.363		NaN											1	0	1.35964e-18	0.01441	1.46215e-18	52	12				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.008361	0	29	13		Valid		
MAGIX	79917	broad.mit.edu	37	X	49022416	49022416	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:49022416C>T	uc010nin.1	+	6	730	c.683C>T	c.(682-684)CCG>CTG	p.P228L	MAGIX_uc010nio.1_Missense_Mutation_p.P152L|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.P169L|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	228											0						TCCGTAGTCCCGTCATGGCCA	0.602		NaN											0	0	0	0.007291	0	28	9				
FAM120C	54954	broad.mit.edu	37	X	54143101	54143101	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:54143101T>A	uc004dsz.3	-	10	2272	c.2189A>T	c.(2188-2190)AAA>ATA	p.K730I	FAM120C_uc011moh.1_Missense_Mutation_p.K730I	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	730										ovary(1)|central_nervous_system(1)	2						TTCAACTGCTTTGCCTAGCCA	0.527		NaN											0	0	0	0.007835	0	40	14				
ARHGEF9	23229	broad.mit.edu	37	X	62926191	62926191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:62926191C>T	uc004dvl.2	-	3	1167	c.328G>A	c.(328-330)GAG>AAG	p.E110K	ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.E89K|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E89K|ARHGEF9_uc011mot.1_Missense_Mutation_p.E57K|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E117K	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	110	Interaction with GPHN (By similarity).|DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						CTCATTATCTCATTGATGACA	0.532		NaN											0	0	0	0.009096	0	4	5				
P2RY10	27334	broad.mit.edu	37	X	78216656	78216656	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:78216656C>T	uc004ede.2	+	4	1008	c.639C>T	c.(637-639)ATC>ATT	p.I213I	P2RY10_uc004edf.2_Silent_p.I213I	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	213	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CAGTGATCATCATCGCATGGT	0.478		NaN											0	0	0	0.01892	0	24	35				
POF1B	79983	broad.mit.edu	37	X	84560911	84560911	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:84560911A>G	uc004eer.2	-	13	1469	c.1323T>C	c.(1321-1323)TCT>TCC	p.S441S	POF1B_uc004ees.2_Silent_p.S441S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	441	Potential.						actin binding				0						TGCAAGTCTCAGAAACCTACA	0.363		NaN											0	0	0	0.007835	0	42	12				
GPRASP1	9737	broad.mit.edu	37	X	101911854	101911854	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:101911854T>C	uc004ejj.3	+	5	3814	c.3013T>C	c.(3013-3015)TGG>CGG	p.W1005R	GPRASP1_uc004eji.3_Missense_Mutation_p.W1005R|GPRASP1_uc010nod.2_Missense_Mutation_p.W1005R	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1005	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGTGGGGTCCTGGTTCTGGGC	0.512		NaN											0	0	0	0.01441	0	87	20				
CAPN6	827	broad.mit.edu	37	X	110489911	110489911	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:110489911T>C	uc004epc.1	-	13	1988	c.1820A>G	c.(1819-1821)GAT>GGT	p.D607G	CAPN6_uc011msu.1_Missense_Mutation_p.D352G	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	607	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AGACTTCAGATCACGGCAGTC	0.512		NaN											0	0	0	0.01441	0	53	9				
CNGA2	1260	broad.mit.edu	37	X	150912796	150912796	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:150912796C>T	uc004fey.1	+	7	2045	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	607	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCAACATGGAAACCT	0.572		NaN											0	0	0	0.01441	0	84	32				
NLGN4Y	22829	broad.mit.edu	37	Y	16835002	16835002	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrY:16835002C>T	uc004ftg.2	+	3	730	c.478C>T	c.(478-480)CAT>TAT	p.H160Y	NLGN4Y_uc004fte.2_5'UTR|NLGN4Y_uc011nas.1_Missense_Mutation_p.H180Y|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.H160Y|NLGN4Y_uc004fti.3_Missense_Mutation_p.H180Y	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	160	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						TCCAGATATTCATGAACAGAA	0.413		NaN											0	0	0	0.014758	0	5	40				
SCNN1D	6339	broad.mit.edu	37	1	1222339	1222339	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:1222339G>C	uc001adu.1	+	7	1235	c.611G>C	c.(610-612)AGA>ACA	p.R204T	SCNN1D_uc001adt.1_Missense_Mutation_p.R368T|SCNN1D_uc001adw.2_Missense_Mutation_p.R270T|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R204T	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCCGGGTCAGAGTGGGGTTC	0.701		NaN											0	0	0	0.175082	0	19	18				
PLEKHM2	23207	broad.mit.edu	37	1	16053704	16053704	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:16053704G>A	uc010obo.1	+	9	1364	c.1137G>A	c.(1135-1137)CCG>CCA	p.P379P		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	379					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGAGGGGCCGAGCAGCACCA	0.687		NaN											0	0	0	0.217242	0	6	12				
ZC3H12A	80149	broad.mit.edu	37	1	37945897	37945897	+	Silent	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37945897G>T	uc001cbb.3	+	3	600	c.450G>T	c.(448-450)GGG>GGT	p.G150G	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	150					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGCCATGGGAACAAGGAGG	0.632		NaN											1	0	2.7689e-08	0.248553	3.11215e-08	6	41				
ZC3H12A	80149	broad.mit.edu	37	1	37945923	37945923	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37945923G>A	uc001cbb.3	+	3	626	c.476G>A	c.(475-477)GGC>GAC	p.G159D	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	159					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTGCCGGGGCATCCTGCTG	0.637		NaN											0	0	0	0.047766	0	8	43				
ZC3H12A	80149	broad.mit.edu	37	1	37946006	37946006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:37946006C>T	uc001cbb.3	+	3	709	c.559C>T	c.(559-561)CCT>TCT	p.P187S	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	187					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGGAGCAGCCTCGGCCCGA	0.627		NaN											0	0	0	0.115264	0	3	29				
KDM4A	9682	broad.mit.edu	37	1	44137208	44137208	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137208G>C	uc001cjx.2	+	11	1562	c.1396G>C	c.(1396-1398)GAG>CAG	p.E466Q	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	466					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						CAAATTTGAAGAGCTTAAAAA	0.428		NaN											0	0	0	0.038147	0	5	76				
KDM4A	9682	broad.mit.edu	37	1	44137256	44137256	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137256G>C	uc001cjx.2	+	11	1610	c.1444G>C	c.(1444-1446)GCA>CCA	p.A482P	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	482					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GGAAGAACAAGCAGCAGCTGC	0.448		NaN											0	0	0	0.058154	0	7	95				
KDM4A	9682	broad.mit.edu	37	1	44137463	44137463	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:44137463G>C	uc001cjx.2	+	11	1817	c.1651G>C	c.(1651-1653)GAT>CAT	p.D551H	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	551					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TGCCAAAGGGGATGGCAGGGT	0.562		NaN											0	0	0	0.160694	0	15	114				
RPS8	6202	broad.mit.edu	37	1	45242394	45242394	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:45242394G>A	uc001cmi.2	+	3	182	c.159G>A	c.(157-159)AAG>AAA	p.K53K	SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	53					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GAGGTAACAAGAAATACCGTG	0.562		NaN											0	0	0	0.058154	0	10	39				
STIL	6491	broad.mit.edu	37	1	47725990	47725990	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:47725990C>G	uc001crc.1	-	16	3203	c.3048G>C	c.(3046-3048)AAG>AAC	p.K1016N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.K970N|STIL_uc010omo.1_Missense_Mutation_p.K999N|STIL_uc001crd.1_Missense_Mutation_p.K1017N|STIL_uc001cre.1_Missense_Mutation_p.K1016N|STIL_uc001crf.1_Missense_Mutation_p.K629N|STIL_uc001crg.1_Missense_Mutation_p.K952N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1016					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTGCATTTTTCTTCACTTTAG	0.308		NaN											0	0	0	0.246493	0	41	10				
PPFIA4	8497	broad.mit.edu	37	1	203024673	203024673	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:203024673C>A	uc001gyz.2	+	3	1018	c.425C>A	c.(424-426)TCC>TAC	p.S142Y	PPFIA4_uc009xaj.2_Missense_Mutation_p.S773Y|PPFIA4_uc010pqf.1_Missense_Mutation_p.S355Y|PPFIA4_uc001gza.2_Missense_Mutation_p.S142Y|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	142					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						AAGCGTGGTTCCATCCCCACC	0.652		NaN											1	0	0.000673444	0.069234	0.000704526	11	33				
THNSL1	79896	broad.mit.edu	37	10	25314303	25314303	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:25314303G>C	uc001isi.3	+	3	2480	c.2151G>C	c.(2149-2151)AAG>AAC	p.K717N	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	717					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCAAGAGAAGATGGAGTACC	0.388		NaN											0	0	0	0.058154	0	9	40				
ZNF365	22891	broad.mit.edu	37	10	64415128	64415128	+	Missense_Mutation	SNP	C	C	T	rs79964532		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:64415128C>T	uc001jmd.1	+	4	462	c.128C>T	c.(127-129)TCA>TTA	p.S43L	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	43										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACAAAGTCAACACATCTA	0.408		NaN											0	0	0	0.038147	0	7	16				
PSAP	5660	broad.mit.edu	37	10	73587834	73587834	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:73587834G>A	uc001jsm.2	-	6	761	c.657C>T	c.(655-657)GTC>GTT	p.V219V		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	219	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						CCAAGGCCTGGACAAAGGTGG	0.552		NaN											0	0	0	0.184627	0	5	50				
TLL2	7093	broad.mit.edu	37	10	98136543	98136543	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr10:98136543C>T	uc001kml.1	-	18	2580	c.2354G>A	c.(2353-2355)GGG>GAG	p.G785E		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	785	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGCCAGGGTCCCCTCCACACT	0.572		NaN											0	0	0	0.203993	0	35	15				
OR51S1	119692	broad.mit.edu	37	11	4869946	4869946	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:4869946G>A	uc010qyo.1	-	1	493	c.493C>T	c.(493-495)CTG>TTG	p.L165L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	165	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGGGGCAGATGGAGACCC	0.557		NaN											0	0	0	0.09319	0	12	44				
MMP26	56547	broad.mit.edu	37	11	5009489	5009489	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:5009489C>T	uc001lzv.2	+	1	66	c.48C>T	c.(46-48)TTC>TTT	p.F16F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	16					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTGGTGTTTCGCCGTTCCAG	0.502		NaN									OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.26419	0	21	31				
ABCC8	6833	broad.mit.edu	37	11	17436131	17436131	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:17436131G>A	uc001mnc.2	-	19	2444	c.2318C>T	c.(2317-2319)TCG>TTG	p.S773L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	773	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTTTCTGCGAAGCATAGGC	0.547		NaN											0	0	0	0.099896	0	26	37				
DTX4	23220	broad.mit.edu	37	11	58962721	58962721	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:58962721G>C	uc001nns.2	+	7	1672	c.1415G>C	c.(1414-1416)GGG>GCG	p.G472A	DTX4_uc001nnr.2_Missense_Mutation_p.G366A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	472					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				ACCATTTATGGGGTGAAGACA	0.532		NaN											0	0	0	0.105934	0	13	35				
ANKRD13D	338692	broad.mit.edu	37	11	67068497	67068497	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:67068497G>A	uc001okc.1	+	12	1360	c.849G>A	c.(847-849)CCG>CCA	p.P283P	ANKRD13D_uc001okd.1_Silent_p.P370P|ANKRD13D_uc001oke.1_Silent_p.P283P|ANKRD13D_uc001okg.1_Silent_p.P66P|ANKRD13D_uc001okh.1_Silent_p.P66P|ANKRD13D_uc001oki.1_Silent_p.P20P|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	283										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGAGCACCCGCTCTCCCTGG	0.612		NaN											0	0	0	0.11911	0	15	46				
FAT3	120114	broad.mit.edu	37	11	92088561	92088561	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:92088561G>A	uc001pdj.3	+	1	3300	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1095	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTATAGACGACGAGAGTGG	0.453		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.184627	0	5	24				
FOLR4	390243	broad.mit.edu	37	11	94039818	94039818	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:94039818C>T	uc010rud.1	+	2	278	c.278C>T	c.(277-279)GCT>GTT	p.A93V		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	93						extracellular region	folic acid binding|receptor activity			ovary(1)	1						TTCATCCAGGCTATCTGCTTC	0.567		NaN											0	0	0	0.160694	0	18	43				
GRIA4	2893	broad.mit.edu	37	11	105795422	105795422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:105795422G>T	uc001pix.2	+	12	2220	c.1774G>T	c.(1774-1776)GAG>TAG	p.E592*	GRIA4_uc001piw.2_Nonsense_Mutation_p.E592*	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	592	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GCCTCCCAATGAGTTTGGCAT	0.468		NaN											1	0	1.12685e-05	0.047766	1.19728e-05	9	15				
ZC3H12C	85463	broad.mit.edu	37	11	110035202	110035202	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr11:110035202G>A	uc009yxw.2	+	6	1443	c.1392G>A	c.(1390-1392)CTG>CTA	p.L464L	ZC3H12C_uc010rwc.1_Silent_p.L465L|ZC3H12C_uc010rwd.1_Silent_p.L465L|ZC3H12C_uc001pkr.3_Silent_p.L433L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	464							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AAGGAGGACTGGTGAAAAGCA	0.512		NaN											0	0	0	0.115264	0	3	23				
KCNA6	3742	broad.mit.edu	37	12	4920041	4920041	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:4920041C>T	uc001qng.2	+	1	1700	c.834C>T	c.(832-834)CTC>CTT	p.L278L		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	278	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CTTTTGAGCTCCTGGTGCGCT	0.557		NaN								HNSCC(72;0.22)			0	0	0	0.0918	0	25	71				
MLL2	8085	broad.mit.edu	37	12	49434618	49434618	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:49434618G>A	uc001rta.3	-	31	6935	c.6935C>T	c.(6934-6936)TCA>TTA	p.S2312L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2312	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GTGGGTGCCTGAGGAGGGTGA	0.617		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.038147	0	8	22		Valid		
CPSF6	11052	broad.mit.edu	37	12	69652453	69652453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:69652453C>T	uc001sut.3	+	6	888	c.778C>T	c.(778-780)CCT>TCT	p.P260S	CPSF6_uc001suu.3_Missense_Mutation_p.P297S|CPSF6_uc010stk.1_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	260	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCAGGTTCTGCCTCCTCCTCT	0.577		NaN											0	0	0	0.099896	0	27	842				
UBE2N	7334	broad.mit.edu	37	12	93803827	93803827	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:93803827C>T	uc001tcp.2	-	4	813	c.447G>A	c.(445-447)ATG>ATA	p.M149I		NM_003348	NP_003339	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	149					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity				0						AAATATTATTCATGGCATATA	0.348		NaN						Direct_reversal_of_damage|Rad6_pathway					0	0	0	0.038147	0	8	14				
FBXO21	23014	broad.mit.edu	37	12	117628253	117628253	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:117628253C>T	uc001twk.2	-	1	48	c.9G>A	c.(7-9)GCG>GCA	p.A3A	FBXO21_uc001twj.2_Silent_p.A3A|FBXO21_uc009zwq.2_Silent_p.A3A	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	3					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		cgactgctgccgccgccATCT	0.478		NaN											0	0	0	0.115264	0	2	2				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr12:122812709C>T	uc001ucg.1	-	16	3140	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1012	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493		NaN											0	0	0	0.249174	0	10	68				
SPATA13	221178	broad.mit.edu	37	13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:24868942G>A	uc001upg.1	+	9	1678	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	SPATA13_uc001upd.1_Missense_Mutation_p.R1049H|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.R370H|SPATA13_uc010tcz.1_Missense_Mutation_p.R308H|SPATA13_uc010tda.1_Missense_Mutation_p.R368H|SPATA13_uc001uph.2_Missense_Mutation_p.R346H|SPATA13_uc010tdb.1_Missense_Mutation_p.R284H|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424	DH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498		NaN											0	0	0	0.150653	0	4	35				
RBM26	64062	broad.mit.edu	37	13	79928636	79928636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:79928636G>C	uc001vkz.2	-	13	1944	c.1930C>G	c.(1930-1932)CCA>GCA	p.P644A	RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	642					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGGTACTGGACCCAGCCGC	0.463		NaN											0	0	0	0.173368	0	36	9				
DCUN1D2	55208	broad.mit.edu	37	13	114138370	114138370	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:114138370T>C	uc001vtr.1	-	2	44	c.5A>G	c.(4-6)CAT>CGT	p.H2R	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	2											0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TTTAAGCTTATGCTTTGGGAT	0.493		NaN											0	0	0	0.139131	0	57	13				
FBN1	2200	broad.mit.edu	37	15	48905226	48905226	+	Silent	SNP	G	G	T	rs141651917	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:48905226G>T	uc001zwx.1	-	3	556	c.228C>A	c.(226-228)GGC>GGA	p.G76G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	76					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTGATTTCCGCCAGGTAAGG	0.393		NaN											1	0	0.00316338	0.132662	0.00321059	14	54				
ATP8B4	79895	broad.mit.edu	37	15	50158634	50158634	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:50158634G>A	uc001zxu.2	-	26	3217	c.3075C>T	c.(3073-3075)ATC>ATT	p.I1025I	ATP8B4_uc010ber.2_Silent_p.I898I|ATP8B4_uc010ufd.1_Silent_p.I835I|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.I28I	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1025	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCTCCCCCAGATGAAGACGT	0.388		NaN											0	0	0	0.204396	0	19	44				
ATP8B4	79895	broad.mit.edu	37	15	50189507	50189507	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:50189507G>A	uc001zxu.2	-	23	2821	c.2679C>T	c.(2677-2679)TTC>TTT	p.F893F	ATP8B4_uc010ber.2_Silent_p.F766F|ATP8B4_uc010ufd.1_Silent_p.F703F|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Silent_p.F191F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	893	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGAAACCACAGAAGAAACCAA	0.299		NaN											0	0	0	0.083992	0	26	81				
KIAA1370	56204	broad.mit.edu	37	15	52903959	52903959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:52903959G>A	uc002acg.3	-	4	370	c.217C>T	c.(217-219)CGA>TGA	p.R73*	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Translation_Start_Site|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.R80*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	73											0				all cancers(107;0.0803)		GACCTAGTTCGTCTGGCTTGG	0.398		NaN											0	0	0	0.11911	0	13	43				
ZNF280D	54816	broad.mit.edu	37	15	56961028	56961028	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:56961028C>G	uc002adu.2	-	14	1755	c.1538G>C	c.(1537-1539)GGA>GCA	p.G513A	ZNF280D_uc002adv.2_Missense_Mutation_p.G500A|ZNF280D_uc010bfq.2_Missense_Mutation_p.G513A|ZNF280D_uc002adw.1_Missense_Mutation_p.G541A|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CACTTTTGTTCCAGGAGGCAA	0.318		NaN											0	0	0	0.038147	0	7	26				
SCAPER	49855	broad.mit.edu	37	15	76994184	76994184	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:76994184A>T	uc002bby.2	-	19	2482	c.2423T>A	c.(2422-2424)TTT>TAT	p.F808Y	SCAPER_uc010bkr.2_Missense_Mutation_p.F116Y|SCAPER_uc002bbx.2_Missense_Mutation_p.F562Y|SCAPER_uc002bbz.1_Missense_Mutation_p.F679Y|SCAPER_uc002bca.1_Missense_Mutation_p.F673Y	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	807	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AACATGGCTAAAAAGATATAC	0.358		NaN											0	0	0	0.11911	0	13	19				
HOMER2	9455	broad.mit.edu	37	15	83532988	83532988	+	Silent	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:83532988C>A	uc002bjg.2	-	4	504	c.318G>T	c.(316-318)GTG>GTT	p.V106V	HOMER2_uc002bjh.2_Silent_p.V106V|HOMER2_uc002bjj.2_Silent_p.V106V|HOMER2_uc002bji.2_Silent_p.V106V	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	106	Potential.|WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						CAGCTTCTTTCACCTCCTGGA	0.388		NaN											1	0	2.0095e-06	0.248553	2.20397e-06	6	23				
BNC1	646	broad.mit.edu	37	15	83933066	83933066	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr15:83933066T>C	uc002bjt.1	-	4	1025	c.937A>G	c.(937-939)AAA>GAA	p.K313E	BNC1_uc010uos.1_Missense_Mutation_p.K301E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	313					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCTTCTTTTTTAGTAATAGCA	0.438		NaN											0	0	0	0.09319	0	12	47				
POLR3E	55718	broad.mit.edu	37	16	22320249	22320249	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:22320249G>A	uc002dkk.2	+	5	325	c.169G>A	c.(169-171)GAG>AAG	p.E57K	POLR3E_uc002dkj.1_Missense_Mutation_p.E57K|POLR3E_uc002dkm.2_Missense_Mutation_p.E21K|POLR3E_uc010vbr.1_Missense_Mutation_p.E57K|POLR3E_uc002dkl.2_Missense_Mutation_p.E57K|POLR3E_uc010vbs.1_Missense_Mutation_p.E21K|POLR3E_uc010vbt.1_Intron	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	57					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		CCTCCAGGTAGAGCTTGAGAT	0.627		NaN											0	0	0	0.09319	0	13	33				
IRX5	10265	broad.mit.edu	37	16	54966775	54966775	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:54966775G>A	uc002ehv.2	+	2	615	c.615G>A	c.(613-615)CAG>CAA	p.Q205Q	IRX5_uc010cca.1_Silent_p.Q257Q|IRX5_uc002ehw.2_Silent_p.Q139Q	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	205					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						ACGAGCCCCAGAAGCCCGAGG	0.592		NaN											0	0	0	0.11911	0	14	41				
ZZEF1	23140	broad.mit.edu	37	17	3974013	3974013	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:3974013C>T	uc002fxe.2	-	26	4104	c.4040G>A	c.(4039-4041)CGC>CAC	p.R1347H	ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1347							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATCTGGAGTGCGATACACCAG	0.393		NaN											0	0	0	0.160694	0	18	42				
CNTROB	116840	broad.mit.edu	37	17	7838454	7838454	+	Silent	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:7838454C>A	uc002gjq.2	+	5	1504	c.585C>A	c.(583-585)ACC>ACA	p.T195T	CNTROB_uc002gjp.2_Silent_p.T195T|CNTROB_uc002gjr.2_Silent_p.T97T|CNTROB_uc010vum.1_5'Flank	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	195					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CAGAGCATACCCGCCGCAAGG	0.502		NaN											1	0	0.004672	0.115264	0.00470661	3	19				
ITGA3	3675	broad.mit.edu	37	17	48149456	48149456	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:48149456C>T	uc010dbl.2	+	7	1530	c.1066C>T	c.(1066-1068)CAC>TAC	p.H356Y	ITGA3_uc010dbm.2_Missense_Mutation_p.H356Y	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	356	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						CTTCCCTGCTCACCCCTCACT	0.562		NaN											0	0	0	0.189662	0	19	43				
WFIKKN2	124857	broad.mit.edu	37	17	48917902	48917902	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:48917902G>A	uc002isv.3	+	2	1947	c.1253G>A	c.(1252-1254)GGC>GAC	p.G418D	WFIKKN2_uc010dbu.2_Missense_Mutation_p.G325D	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	418	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTCTATGGTGGCTGCGAGGGC	0.667		NaN											0	0	0	0.175082	0	18	35				
CA10	56934	broad.mit.edu	37	17	49710985	49710985	+	Missense_Mutation	SNP	C	C	A	rs149523462		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:49710985C>A	uc002itw.3	-	8	1802	c.816G>T	c.(814-816)CAG>CAT	p.Q272H	CA10_uc002itu.3_Missense_Mutation_p.Q201H|CA10_uc002itv.3_Missense_Mutation_p.Q278H|CA10_uc002itx.3_Missense_Mutation_p.Q272H|CA10_uc002ity.3_Missense_Mutation_p.Q272H|CA10_uc002itz.2_Missense_Mutation_p.Q272H	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	272					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ATGGCTGGTTCTGGCTGAGCA	0.498		NaN											1	0	2.23348e-06	0.146539	2.43003e-06	15	46				
TRIP10	9322	broad.mit.edu	37	19	6750343	6750343	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:6750343G>T	uc002mfs.2	+	13	1502	c.1436G>T	c.(1435-1437)CGG>CTG	p.R479L	TRIP10_uc010dux.1_Missense_Mutation_p.R423L|TRIP10_uc002mfr.2_Missense_Mutation_p.R423L|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R242L	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	479	Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						CTTAGCAACCGGGGAGACAGC	0.667		NaN											1	0	0.00185496	0.105934	0.00192576	13	47				
APLP1	333	broad.mit.edu	37	19	36369487	36369487	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:36369487G>A	uc002oce.2	+	14	1716	c.1578G>A	c.(1576-1578)GGG>GGA	p.G526G	APLP1_uc010xsz.1_Silent_p.G487G|APLP1_uc002ocf.2_Silent_p.G527G|APLP1_uc002ocg.2_Silent_p.G430G|APLP1_uc010xta.1_Silent_p.G520G	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	526	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGGTAGGGTCCACAGAAC	0.308		NaN											0	0	0	0.047766	0	8	28				
ACTN4	81	broad.mit.edu	37	19	39191751	39191751	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:39191751C>T	uc002oja.1	+	3	446	c.387C>T	c.(385-387)ATC>ATT	p.I129I	ACTN4_uc010egc.1_Silent_p.I129I	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	129	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGTCTCCATCGGGGCAGAAG	0.532		NaN											0	0	0	0.160694	0	16	30				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:40367841T>G	uc002omp.3	-	29	13127	c.13119A>C	c.(13117-13119)GCA>GCC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4373	TIL 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627		NaN											0	0	0	0.146539	0	7	29				
NKPD1	284353	broad.mit.edu	37	19	45656276	45656276	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:45656276G>C	uc010xxi.1	-	4	1419	c.1419C>G	c.(1417-1419)CTC>CTG	p.L473L		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGATGGCGTTGAGCACGCCCA	0.672		NaN											0	0	0	0.115264	0	3	7				
NKPD1	284353	broad.mit.edu	37	19	45656867	45656867	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:45656867G>T	uc010xxi.1	-	4	828	c.828C>A	c.(826-828)TTC>TTA	p.F276L		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGATGAAAAGGAACTGCACGT	0.662		NaN											1	0	0.00024832	0.150653	0.000261795	3	7				
SAE1	10055	broad.mit.edu	37	19	47646815	47646815	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:47646815C>T	uc002pgc.2	+	2	219	c.163C>T	c.(163-165)CTC>TTC	p.L55F	SAE1_uc002pgd.2_Missense_Mutation_p.L55F|SAE1_uc010ekx.2_Missense_Mutation_p.L55F|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	55					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGCCAAGAATCTCATCTTGGC	0.522		NaN											0	0	0	0.189662	0	17	80				
CLEC11A	6320	broad.mit.edu	37	19	51228559	51228559	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:51228559C>T	uc002psy.2	+	4	985	c.807C>T	c.(805-807)CGC>CGT	p.R269R		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	269	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GCTCACCCCGCCCCGAGCTCG	0.726		NaN											0	0	0	0.069234	0	9	7				
ZNF615	284370	broad.mit.edu	37	19	52498046	52498046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:52498046G>A	uc002pye.1	-	6	575	c.283C>T	c.(283-285)CAA>TAA	p.Q95*	ZNF615_uc002pyf.1_Nonsense_Mutation_p.Q106*|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Nonsense_Mutation_p.Q106*|ZNF615_uc010epi.1_Nonsense_Mutation_p.Q102*|ZNF615_uc010ydg.1_Nonsense_Mutation_p.Q100*	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAATACTTTGATTTTGCAAG	0.348		NaN											0	0	0	0.249174	0	20	20				
VSTM1	284415	broad.mit.edu	37	19	54544246	54544246	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:54544246C>A	uc002qcw.3	-	9	856	c.680G>T	c.(679-681)GGA>GTA	p.G227V	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.G196V	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTCATGAGATCCTGGGGGCTC	0.557		NaN											1	0	1.5739e-10	0.146539	1.79874e-10	15	14				
FIZ1	84922	broad.mit.edu	37	19	56104596	56104596	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr19:56104596G>A	uc002qli.3	-	3	801	c.711C>T	c.(709-711)TTC>TTT	p.F237F	FIZ1_uc002qlj.3_Silent_p.F237F	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	237	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGGCGCGTTGAAGTCGCGCT	0.587		NaN											0	0	0	0.150653	0	3	4				
TRMT61B	55006	broad.mit.edu	37	2	29073986	29073986	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr2:29073986G>C	uc002rmm.2	-	5	1296	c.1264C>G	c.(1264-1266)CAA>GAA	p.Q422E	TRMT61B_uc002rmn.2_Missense_Mutation_p.Q422E|TRMT61B_uc010ezk.2_Intron	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	422							tRNA (adenine-N1-)-methyltransferase activity				0						ATTTTCTCTTGAGAATCTAGT	0.363		NaN											0	0	0	0.108266	0	26	6				
PLEKHH2	130271	broad.mit.edu	37	2	43927132	43927132	+	Silent	SNP	A	A	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr2:43927132A>G	uc010yny.1	+	8	1118	c.1035A>G	c.(1033-1035)AGA>AGG	p.R345R	PLEKHH2_uc002rte.3_Silent_p.R345R|PLEKHH2_uc002rtf.3_Silent_p.R344R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	345						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATAAAGAGACCAGAACACA	0.428		NaN											0	0	0	0.105934	0	13	47				
ASXL1	171023	broad.mit.edu	37	20	31024350	31024350	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:31024350G>A	uc002wxs.2	+	12	4261	c.3835G>A	c.(3835-3837)GTG>ATG	p.V1279M	ASXL1_uc010geb.2_Missense_Mutation_p.V1170M	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1279					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ATCTCCAAATGTGATCTCCTT	0.512		NaN	F|N|Mis		MDS|CMML								0	0	0	0.173368	0	36	26				
PHF20	51230	broad.mit.edu	37	20	34389477	34389477	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:34389477C>T	uc002xek.1	+	2	144	c.33C>T	c.(31-33)ATC>ATT	p.I11I	PHF20_uc002xei.1_Silent_p.I11I|PHF20_uc010gfo.1_Silent_p.I11I|PHF20_uc002xej.1_5'UTR|PHF20_uc002xeh.2_RNA	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GACGAGGAATCAGCTTTGAAG	0.398		NaN											0	0	0	0.11911	0	12	36				
PCK1	5105	broad.mit.edu	37	20	56137883	56137883	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr20:56137883G>A	uc002xyn.3	+	4	701	c.538G>A	c.(538-540)GTC>ATC	p.V180I	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	180					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGGCACGCCCGTCCTGGAAGC	0.562		NaN											0	0	0	0.248553	0	5	37				
MRAP	56246	broad.mit.edu	37	21	33671325	33671325	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:33671325G>A	uc002ypj.2	+	3	230	c.43G>A	c.(43-45)GAA>AAA	p.E15K	MRAP_uc002ypk.2_Missense_Mutation_p.E15K|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.E15K	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	15	Cytoplasmic (Potential).				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0						CTACAGCTATGAATACTACCT	0.597		NaN											0	0	0	0.038147	0	7	28				
DSCAM	1826	broad.mit.edu	37	21	41452089	41452089	+	Silent	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:41452089G>T	uc002yyq.1	-	25	4862	c.4410C>A	c.(4408-4410)ACC>ACA	p.T1470T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1470	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTCCTAAGGTCTTTGCTT	0.428		NaN											1	0	0.00307968	0.038147	0.00314915	8	92				
COL18A1	80781	broad.mit.edu	37	21	46875522	46875522	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:46875522G>C	uc011afs.1	+	1	99	c.78G>C	c.(76-78)CTG>CTC	p.L26L	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L26L	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	26					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAACCTGCTGAACCTGAACT	0.642		NaN											0	0	0	0.219247	0	20	92				
PCNT	5116	broad.mit.edu	37	21	47847643	47847643	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr21:47847643C>T	uc002zji.3	+	34	7535	c.7428C>T	c.(7426-7428)CTC>CTT	p.L2476L	PCNT_uc002zjj.2_Silent_p.L2358L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2476					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGCCCCGACTCAGTGGCTCAG	0.602		NaN											0	0	0	0.11911	0	14	71				
RBM9	23543	broad.mit.edu	37	22	36141976	36141976	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:36141976G>A	uc003aon.3	-	13	1417	c.1305C>T	c.(1303-1305)GGC>GGT	p.G435G	RBM9_uc003aog.3_Silent_p.G341G|RBM9_uc003aol.3_Silent_p.G360G|RBM9_uc003aoj.3_Silent_p.G364G|RBM9_uc003aok.3_Missense_Mutation_p.A348V|RBM9_uc003aoh.3_Missense_Mutation_p.A351V|RBM9_uc003aom.3_Silent_p.G342G|RBM9_uc010gwu.2_Missense_Mutation_p.A351V|RBM9_uc003aoo.3_Silent_p.G434G	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	374	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0						TTACCACAGCGCCAACTCCAT	0.443		NaN											0	0	0	0.219247	0	17	269				
CELSR1	9620	broad.mit.edu	37	22	46765614	46765614	+	Missense_Mutation	SNP	G	G	A	rs62226999		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:46765614G>A	uc003bhw.1	-	26	7847	c.7847C>T	c.(7846-7848)GCG>GTG	p.A2616V	CELSR1_uc011arc.1_Silent_p.C1081C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2616	Helical; Name=5; (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GATGGGCCCCGCAAAGCTCCA	0.622		NaN											0	0	0	0.217242	0	6	27				
ATP2B2	491	broad.mit.edu	37	3	10417249	10417249	+	Silent	SNP	C	C	T	rs113465029		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:10417249C>T	uc003bvt.2	-	11	1720	c.1281G>A	c.(1279-1281)CCG>CCA	p.P427P	ATP2B2_uc003bvv.2_Silent_p.P382P|ATP2B2_uc003bvw.2_Silent_p.P382P|ATP2B2_uc010hdo.2_Silent_p.P132P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	427	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CAGGCAGCCACGGCTTCTTGT	0.577		NaN											0	0	0	0.132662	0	16	43				
CNTN3	5067	broad.mit.edu	37	3	74350837	74350837	+	Missense_Mutation	SNP	G	G	C	rs144093273	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:74350837G>C	uc003dpm.1	-	14	1986	c.1906C>G	c.(1906-1908)CGG>GGG	p.R636G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	636	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAAGGTGTCCGAGCCTGGATA	0.433		NaN											0	0	0	0.080935	0	11	32				
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:119886517G>A	uc011bjf.1	-	9	1807	c.1807C>T	c.(1807-1809)CGG>TGG	p.R603W	GPR156_uc011bjg.1_Missense_Mutation_p.R599W	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.|Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592		NaN											0	0	0	0.132662	0	16	43				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr3:126707544T>G	uc003ejg.2	+	1	43	c.39T>G	c.(37-39)GGT>GGG	p.G13G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.567		NaN											0	0	0	0.09319	0	8	17				
UGT2A3	79799	broad.mit.edu	37	4	69811101	69811101	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:69811101C>G	uc003hef.2	-	2	818	c.787G>C	c.(787-789)GAA>CAA	p.E263Q	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	263	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TGAGGAAATTCAAAATCCCAA	0.373		NaN											0	0	0	0.069234	0	11	37				
ANK2	287	broad.mit.edu	37	4	114280167	114280167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:114280167G>T	uc003ibe.3	+	38	10493	c.10393G>T	c.(10393-10395)GAG>TAG	p.E3465*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Nonsense_Mutation_p.E767*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E3480*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3432					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAAGTAAGGAGCATTTCTT	0.458		NaN											1	0	9.31168e-06	0.105934	9.97156e-06	14	37				
FBXW7	55294	broad.mit.edu	37	4	153244232	153244232	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr4:153244232T>C	uc003ims.2	-	12	2074	c.1925A>G	c.(1924-1926)GAT>GGT	p.D642G	FBXW7_uc011cii.1_Missense_Mutation_p.D642G|FBXW7_uc003imt.2_Missense_Mutation_p.D642G|FBXW7_uc011cih.1_Missense_Mutation_p.D466G|FBXW7_uc003imq.2_Missense_Mutation_p.D562G|FBXW7_uc003imr.2_Missense_Mutation_p.D524G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	642	WD 7.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCCATCATCTGAGCTGGT	0.428		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.146539	0	16	59		Valid		
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:55063741C>T	uc003jqg.3	+	7	441	c.367C>T	c.(367-369)CGG>TGG	p.R123W	DDX4_uc010ivz.2_Intron|DDX4_uc003jqh.3_Missense_Mutation_p.R123W|DDX4_uc003jqj.2_Missense_Mutation_p.R24W	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333		NaN											0	0	0	0.11911	0	11	31				
GPR98	84059	broad.mit.edu	37	5	89923175	89923175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:89923175G>T	uc003kju.2	+	7	916	c.820G>T	c.(820-822)GAG>TAG	p.E274*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	274	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGGTTCCTGAGGAAGACCA	0.383		NaN											1	0	1.3612e-06	0.132662	1.50507e-06	13	67				
GPR98	84059	broad.mit.edu	37	5	89923397	89923397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:89923397G>A	uc003kju.2	+	7	1138	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	348	Calx-beta 3.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAATAGTTGATGACACCAT	0.378		NaN											0	0	0	0.163468	0	32	97				
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:94030836C>A	uc003kkr.3	+	21	3076	c.2996C>A	c.(2995-2997)ACC>AAC	p.T999N	ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348		NaN											1	0	0.00307968	0.038147	0.00314915	5	57				
PCDHA5	56143	broad.mit.edu	37	5	140202795	140202795	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:140202795C>T	uc003lhl.2	+	1	1435	c.1435C>T	c.(1435-1437)CGG>TGG	p.R479W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R479W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R479W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	479	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCACGGGACGCGGA	0.662		NaN											0	0	0	0.125774	0	28	37				
PCDHA9	9752	broad.mit.edu	37	5	140230125	140230125	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:140230125C>T	uc003lhu.2	+	1	2769	c.2045C>T	c.(2044-2046)GCG>GTG	p.A682V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A682V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTCGCGGGCGTCAGTGGGT	0.657		NaN											0	0	0	0.175082	0	19	27				
SQSTM1	8878	broad.mit.edu	37	5	179263552	179263552	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr5:179263552C>T	uc003mkw.3	+	8	1377	c.1282C>T	c.(1282-1284)CTG>TTG	p.L428L	SQSTM1_uc011dgr.1_Silent_p.L344L|SQSTM1_uc011dgs.1_Silent_p.L344L|SQSTM1_uc003mkv.3_Silent_p.L344L|SQSTM1_uc003mkx.2_Silent_p.L344L	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	428	Interaction with NTRK1 (By similarity).|UBA.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAGCGGCTCTGGACACCAT	0.552		NaN							Paget_Disease_of_Bone				0	0	0	0.108266	0	24	60				
SLC17A3	10786	broad.mit.edu	37	6	25861865	25861865	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:25861865G>T	uc003nfi.3	-	4	488	c.378C>A	c.(376-378)AGC>AGA	p.S126R	SLC17A3_uc003nfk.3_Missense_Mutation_p.S204R|SLC17A3_uc011djz.1_Missense_Mutation_p.S204R|SLC17A3_uc011dka.1_Missense_Mutation_p.S126R	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	126	Helical; (Potential).				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						ATAAAGCAATGCTGCAGAGTC	0.418		NaN											1	0	1.66031e-10	0.0918	1.88168e-10	24	56				
KHDRBS2	202559	broad.mit.edu	37	6	62757854	62757854	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:62757854T>A	uc003peg.2	-	3	512	c.265A>T	c.(265-267)AAG>TAG	p.K89*		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	89	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTAGCCTCTTCAAGGAGTTT	0.353		NaN											0	0	0	0.204396	0	21	39				
B3GAT2	135152	broad.mit.edu	37	6	71665845	71665845	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:71665845C>T	uc003pfv.2	-	1	944	c.288G>A	c.(286-288)GCG>GCA	p.A96A	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.A96A	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	96	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGGTCAGCTCCGCTTTCTGCA	0.697		NaN											0	0	0	0.058154	0	7	16				
TMEM200A	114801	broad.mit.edu	37	6	130762085	130762085	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:130762085T>C	uc003qca.2	+	3	1389	c.518T>C	c.(517-519)CTA>CCA	p.L173P	TMEM200A_uc010kfh.2_Missense_Mutation_p.L173P|TMEM200A_uc010kfi.2_Missense_Mutation_p.L173P|TMEM200A_uc003qcb.2_Missense_Mutation_p.L173P	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	173	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTCACACGCTAAGAATCAAG	0.423		NaN											0	0	0	0.09319	0	10	29				
C7orf26	79034	broad.mit.edu	37	7	6634164	6634164	+	Silent	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:6634164C>T	uc003sqo.1	+	3	513	c.513C>T	c.(511-513)TTC>TTT	p.F171F	C7orf26_uc003sqp.1_Silent_p.F152F|C7orf26_uc003sqq.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	171										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGCAGATATTCAGTGCCAGCC	0.502		NaN											0	0	0	0.058154	0	9	121				
SP4	6671	broad.mit.edu	37	7	21469484	21469484	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:21469484G>C	uc003sva.2	+	3	882	c.701G>C	c.(700-702)AGA>ACA	p.R234T	SP4_uc003svb.2_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	234					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						GTCCAAATTAGACCTGGTGTT	0.443		NaN											0	0	0	0.132662	0	16	116				
ZNF92	168374	broad.mit.edu	37	7	64864186	64864186	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:64864186C>T	uc003ttz.2	+	4	1302	c.1159C>T	c.(1159-1161)CAT>TAT	p.H387Y	ZNF92_uc003tua.2_Missense_Mutation_p.H318Y|ZNF92_uc010kzu.2_Missense_Mutation_p.H355Y|ZNF92_uc003tub.2_Missense_Mutation_p.H311Y	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	387	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				CCTTACTAAACATAAAAGAAT	0.358		NaN											0	0	0	0.175082	0	19	22				
SEMA3A	10371	broad.mit.edu	37	7	83591109	83591109	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:83591109G>C	uc003uhz.2	-	17	2209	c.1894C>G	c.(1894-1896)CAA>GAA	p.Q632E		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	632	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						AGAAGGCCTTGATCTGTCCTG	0.398		NaN											0	0	0	0.146539	0	17	21				
COL1A2	1278	broad.mit.edu	37	7	94043017	94043017	+	Missense_Mutation	SNP	G	G	A	rs147074348		TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:94043017G>A	uc003ung.1	+	27	2044	c.1573G>A	c.(1573-1575)GAT>AAT	p.D525N	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	525					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGGTCCTGATGGAAACAA	0.453		NaN								HNSCC(75;0.22)			0	0	0	0.175082	0	16	25				
PSMC2	5701	broad.mit.edu	37	7	103007921	103007921	+	Silent	SNP	G	G	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103007921G>C	uc003vbs.2	+	10	976	c.906G>C	c.(904-906)CTG>CTC	p.L302L	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.L165L	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TGTTGGAACTGATCAATCAGC	0.453		NaN											0	0	0	0.132662	0	14	55				
PSMC2	5701	broad.mit.edu	37	7	103007988	103007988	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103007988G>A	uc003vbs.2	+	10	1043	c.973G>A	c.(973-975)GAT>AAT	p.D325N	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.D188N	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	325					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TAACAGACCTGATACTTTGGA	0.403		NaN											0	0	0	0.080935	0	11	48				
PSMC2	5701	broad.mit.edu	37	7	103008039	103008039	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008039G>A	uc003vbs.2	+	10	1094	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.E205K	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	342					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TAGAAAAATTGAATTTAGCTT	0.358		NaN											0	0	0	0.09319	0	13	44				
PSMC2	5701	broad.mit.edu	37	7	103008218	103008218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008218G>A	uc003vbs.2	+	11	1176	c.1106G>A	c.(1105-1107)AGA>AAA	p.R369K	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R232K	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						AGAGATATCAGATTTGAACTG	0.363		NaN											0	0	0	0.189662	0	19	57				
PSMC2	5701	broad.mit.edu	37	7	103008346	103008346	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008346G>A	uc003vbs.2	+	12	1217	c.1147G>A	c.(1147-1149)GCT>ACT	p.A383T	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A246T	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	383					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TTTGAAAGGTGCTGAGATTAG	0.413		NaN											0	0	0	0.146539	0	17	65				
PSMC2	5701	broad.mit.edu	37	7	103008392	103008392	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008392G>A	uc003vbs.2	+	12	1263	c.1193G>A	c.(1192-1194)AGA>AAA	p.R398K	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R261K	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	398					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TTTGCCATCAGAGCACGGCGA	0.423		NaN											0	0	0	0.146539	0	16	77				
PSMC2	5701	broad.mit.edu	37	7	103008417	103008417	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:103008417G>A	uc003vbs.2	+	12	1288	c.1218G>A	c.(1216-1218)GAG>GAA	p.E406E	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.E269E	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	406					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TTGCTACCGAGAAGGATTTCT	0.423		NaN											0	0	0	0.146539	0	17	66				
CTHRC1	115908	broad.mit.edu	37	8	104388121	104388121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr8:104388121G>A	uc003ylk.2	+	2	405	c.306G>A	c.(304-306)TGG>TGA	p.W102*	CTHRC1_uc011lhq.1_Nonsense_Mutation_p.W102*	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	102						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AGGAGTCCTGGACACCCAACT	0.453		NaN											0	0	0	0.058154	0	10	64				
ZFP37	7539	broad.mit.edu	37	9	115806366	115806366	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:115806366C>G	uc004bgm.1	-	4	560	c.532G>C	c.(532-534)GAG>CAG	p.E178Q	ZFP37_uc011lwz.1_Missense_Mutation_p.E193Q|ZFP37_uc011lxa.1_Missense_Mutation_p.E179Q	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCACATGACTCAAATTTAAGA	0.333		NaN											0	0	0	0.047766	0	9	38				
PAPPA	5069	broad.mit.edu	37	9	118982346	118982346	+	Silent	SNP	C	C	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:118982346C>A	uc004bjn.2	+	5	2430	c.2049C>A	c.(2047-2049)GGC>GGA	p.G683G	PAPPA_uc011lxp.1_Silent_p.G378G|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	683					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AAGTTCTGGGCCACACAACGG	0.562		NaN											1	0	2.6416e-12	0.235728	3.07058e-12	37	57				
GPR21	2844	broad.mit.edu	37	9	125797575	125797575	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr9:125797575G>A	uc011lzk.1	+	1	730	c.730G>A	c.(730-732)GCC>ACC	p.A244T	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	244	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GGAAGTGCAGGCCTGTCCTGA	0.488		NaN											0	0	0	0.219247	0	20	61				
ARSD	414	broad.mit.edu	37	X	2825476	2825476	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:2825476C>T	uc004cqy.2	-	10	1694	c.1618G>A	c.(1618-1620)GTG>ATG	p.V540M	ARSD_uc004cqz.1_RNA	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	540						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGCTATCACGGCGTGGTAC	0.647		NaN											0	0	0	0.150653	0	4	10				
DMD	1756	broad.mit.edu	37	X	32235148	32235148	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:32235148C>T	uc004dda.1	-	44	6567	c.6323G>A	c.(6322-6324)CGT>CAT	p.R2108H	DMD_uc004dcw.2_Missense_Mutation_p.R764H|DMD_uc004dcx.2_Missense_Mutation_p.R767H|DMD_uc004dcz.2_Missense_Mutation_p.R1985H|DMD_uc004dcy.1_Missense_Mutation_p.R2104H|DMD_uc004ddb.1_Missense_Mutation_p.R2100H|DMD_uc010ngo.1_Missense_Mutation_p.R17H|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2108	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATAATGAAAACGCCGCCATTT	0.348		NaN											0	0	0	0.11911	0	13	11				
KIAA1210	57481	broad.mit.edu	37	X	118223492	118223492	+	Silent	SNP	G	G	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:118223492G>A	uc004era.3	-	11	1701	c.1701C>T	c.(1699-1701)GGC>GGT	p.G567G		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	567										ovary(4)|skin(1)	5						CAGCTCTATCGCCCAGGCCAT	0.473		NaN											0	0	0	0.108266	0	28	47				
UBR4	23352	broad.mit.edu	37	1	19487443	19487443	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19487443C>T	uc001bbi.2	-	38	5378	c.5374G>A	c.(5374-5376)GTA>ATA	p.V1792I	UBR4_uc001bbm.1_Missense_Mutation_p.V1003I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1792					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCCTCTACTGTGCGGCAG	0.542		NaN											0	0	0	0.001984	0	7	46				
MRTO4	51154	broad.mit.edu	37	1	19584362	19584362	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19584362G>C	uc001bbs.2	+	6	632	c.377G>C	c.(376-378)CGA>CCA	p.R126P		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	126					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTACGCCCGAGCTGGTAAC	0.592		NaN											0	0	0	0.014323	0	23	123				
TAF12	6883	broad.mit.edu	37	1	28931969	28931969	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:28931969C>T	uc001bqw.2	-	4	458	c.365G>A	c.(364-366)CGC>CAC	p.R122H	TAF12_uc001bqx.2_Missense_Mutation_p.R122H|TAF12_uc001bqy.2_Missense_Mutation_p.R122H|TAF12_uc009vti.2_Missense_Mutation_p.R122H	NM_005644	NP_005635	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding	122					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCACTGGCGCTCTGCAAG	0.512		NaN											0	0	0	0.020292	0	14	80				
DMRTA2	63950	broad.mit.edu	37	1	50884577	50884577	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:50884577G>A	uc010ona.1	-	2	1485	c.1389C>T	c.(1387-1389)CTC>CTT	p.L463L	DMRTA2_uc010onb.1_Silent_p.L463L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	463	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCAGGGGGCTGAGGCCGAGCG	0.756		NaN											0	0	0	0.021553	0	6	6				
LPPR4	9890	broad.mit.edu	37	1	99771657	99771657	+	Silent	SNP	C	C	T	rs35971915		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:99771657C>T	uc001dse.2	+	7	1489	c.1383C>T	c.(1381-1383)TCC>TCT	p.S461S	LPPR4_uc010oue.1_Silent_p.S403S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	461							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAGTTGTCCTTGCAAGTTA	0.502		NaN											0	0	0	0.023175	0	39	94				
OLFM3	118427	broad.mit.edu	37	1	102312479	102312479	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:102312479C>G	uc001duf.2	-	1	122	c.51G>C	c.(49-51)ATG>ATC	p.M17I	OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	17						extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTTGAGATCATTGCCATGG	0.507		NaN											0	0	0	0.014323	0	24	91				
FAM40A	85369	broad.mit.edu	37	1	110581817	110581817	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:110581817C>T	uc001dza.1	+	4	368	c.349C>T	c.(349-351)CTG>TTG	p.L117L	FAM40A_uc001dyz.1_Silent_p.L22L|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	117						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GTGGACTGAGCTGGATACCAA	0.517		NaN											0	0	0	0.013537	0	13	46				
TXNIP	10628	broad.mit.edu	37	1	145438895	145438895	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145438895G>C	uc001enn.3	+	1	434	c.93G>C	c.(91-93)GTG>GTC	p.V31V	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	31					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGCCGGGTGATAGTGGAGG	0.517		NaN											0	0	0	0.001984	0	7	91				
TXNIP	10628	broad.mit.edu	37	1	145439609	145439609	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145439609G>C	uc001enn.3	+	2	608	c.267G>C	c.(265-267)GTG>GTC	p.V89V	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V34V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	89					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGATGGTGATCATGAGAC	0.403		NaN											0	0	0	0.007413	0	17	131				
TXNIP	10628	broad.mit.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145440274G>A	uc001enn.3	+	5	921	c.580G>A	c.(580-582)GAG>AAG	p.E194K	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E139K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478		NaN											0	0	0	0.012319	0	21	149		Valid		
PIAS3	10401	broad.mit.edu	37	1	145584822	145584822	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145584822C>A	uc001eoc.1	+	13	1697	c.1606C>A	c.(1606-1608)CAG>AAG	p.Q536K	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.Q205K	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	536					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCATTTCTTCAGACAGAGAG	0.423		NaN											1	0	7.11191e-15	0.013726	7.61477e-15	30	76				
SETDB1	9869	broad.mit.edu	37	1	150923371	150923371	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:150923371A>G	uc001evu.2	+	13	2208	c.2018A>G	c.(2017-2019)TAT>TGT	p.Y673C	SETDB1_uc009wmf.2_Missense_Mutation_p.Y674C|SETDB1_uc001evv.2_Missense_Mutation_p.Y673C|SETDB1_uc009wmg.1_Missense_Mutation_p.Y673C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAGCCCTATAAGCCTTTT	0.463		NaN											0	0	0	0.012213	0	35	83				
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:151108092C>G	uc001ewu.2	-	14	1708	c.1408G>C	c.(1408-1410)GAG>CAG	p.E470Q	SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	470	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602		NaN											0	0	0	0.01441	0	67	122				
NUP210L	91181	broad.mit.edu	37	1	154112367	154112367	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:154112367C>G	uc001fdw.2	-	5	700	c.628G>C	c.(628-630)GAG>CAG	p.E210Q	NUP210L_uc010peh.1_Missense_Mutation_p.E210Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	210						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTTTCTCCTCTTTTTCCATC	0.338		NaN											0	0	0	0.01441	0	105	243				
FMOD	2331	broad.mit.edu	37	1	203316731	203316731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:203316731C>T	uc001gzr.2	-	2	804	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	223					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCAGTGACCGGAGGCCCCT	0.567		NaN											0	0	0	0.01441	0	72	189				
PTPN14	5784	broad.mit.edu	37	1	214567095	214567095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:214567095A>C	uc001hkk.1	-	10	1143	c.872T>G	c.(871-873)ATT>AGT	p.I291S	PTPN14_uc010pty.1_Missense_Mutation_p.I192S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	291	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAACCGAGAAATATACTTGGC	0.343		NaN											0	0	0	0.021523	0	20	67				
JMJD4	65094	broad.mit.edu	37	1	227921241	227921241	+	Silent	SNP	G	G	A	rs117793265	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:227921241G>A	uc001hrb.2	-	4	834	c.834C>T	c.(832-834)TCC>TCT	p.S278S	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.S278S	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	278	JmjC.										0		Prostate(94;0.0885)				AGAGTGCTGGGGAGGTCACGT	0.642		NaN											0	0	0	0.012319	0	21	61				
OBSCN	84033	broad.mit.edu	37	1	228473945	228473945	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:228473945C>T	uc009xez.1	+	34	9215	c.9171C>T	c.(9169-9171)CCC>CCT	p.P3057P	OBSCN_uc001hsn.2_Silent_p.P3057P|OBSCN_uc001hsq.1_Silent_p.P313P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3057	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATGCCCAGCCCGGGGGCTACC	0.667		NaN											0	0	0	0.021553	0	6	26				
GPR158	57512	broad.mit.edu	37	10	25885648	25885648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:25885648C>G	uc001isj.2	+	10	2135	c.2075C>G	c.(2074-2076)TCT>TGT	p.S692C	GPR158_uc001isk.2_Missense_Mutation_p.S67C	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	692	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGGGCCGATCTGGATCCTAC	0.443		NaN											0	0	0	0.020292	0	14	42				
MKX	283078	broad.mit.edu	37	10	28032225	28032225	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:28032225G>A	uc001ity.3	-	2	345	c.120C>T	c.(118-120)CGC>CGT	p.R40R	MKX_uc001itx.3_Silent_p.R40R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	40					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCACCTCGGGGCGGGCGTGAG	0.726		NaN											0	0	0	0.008291	0	10	33				
HKDC1	80201	broad.mit.edu	37	10	71002944	71002944	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:71002944G>A	uc001jpf.3	+	7	831	c.698G>A	c.(697-699)GGC>GAC	p.G233D	HKDC1_uc010qje.1_Missense_Mutation_p.G96D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	233					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TCAGGAACTGGCACCAATGCG	0.562		NaN											0	0	0	0.014323	0	21	114				
PRF1	5551	broad.mit.edu	37	10	72358594	72358594	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:72358594T>C	uc009xqg.2	-	3	1044	c.883A>G	c.(883-885)ACC>GCC	p.T295A	PRF1_uc001jrf.3_Missense_Mutation_p.T295A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	295	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TCCCGGTAGGTTTGGTGGAAG	0.607		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.021523	0	27	73				
TACC2	10579	broad.mit.edu	37	10	123846852	123846852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:123846852G>T	uc001lfv.2	+	4	5197	c.4837G>T	c.(4837-4839)GAT>TAT	p.D1613Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D1613Y|TACC2_uc010qtv.1_Missense_Mutation_p.D1613Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1613						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACATGGAGAAGATGGTCCCGG	0.582		NaN											1	0	4.35082e-09	0.010504	4.52144e-09	22	69				
MRPL23	6150	broad.mit.edu	37	11	1977518	1977518	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:1977518G>A	uc001lux.2	+	5	421	c.330G>A	c.(328-330)CTG>CTA	p.L110L		NM_021134	NP_066957	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	110					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|ovary(1)	3		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCCAGATCTGTTTCCCGAGA	0.622		NaN											0	0	0	0.01892	0	24	167				
TRIM5	85363	broad.mit.edu	37	11	5686559	5686559	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:5686559C>T	uc001mbm.1	-	8	1219	c.962G>A	c.(961-963)AGC>AAC	p.S321N	TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	321	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCGGAGAGCTCACTTGTCT	0.408		NaN											0	0	0	0.020292	0	13	69				
STK33	65975	broad.mit.edu	37	11	8483449	8483449	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:8483449C>A	uc001mgi.1	-	4	1380	c.461G>T	c.(460-462)AGC>ATC	p.S154I	STK33_uc001mgj.1_Missense_Mutation_p.S154I|STK33_uc001mgk.1_Missense_Mutation_p.S154I|STK33_uc010rbn.1_Missense_Mutation_p.S113I|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	154	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CACAGCAGAGCTTCCAGCCTT	0.338		NaN											1	0	4.84862e-15	0.010729	5.2178e-15	11	39				
AMPD3	272	broad.mit.edu	37	11	10514903	10514903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:10514903C>T	uc001mio.1	+	7	1282	c.947C>T	c.(946-948)ACA>ATA	p.T316I	AMPD3_uc010rbz.1_Missense_Mutation_p.T157I|AMPD3_uc001min.1_Missense_Mutation_p.T325I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T323I|AMPD3_uc009yfy.2_Missense_Mutation_p.T316I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	316					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGTGGACACACACATCCAT	0.577		NaN											0	0	0	0.009718	0	44	160				
PAMR1	25891	broad.mit.edu	37	11	35454248	35454248	+	Missense_Mutation	SNP	C	C	T	rs148541461		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:35454248C>T	uc001mwg.2	-	11	1862	c.1819G>A	c.(1819-1821)GTG>ATG	p.V607M	PAMR1_uc001mwf.2_Missense_Mutation_p.V624M|PAMR1_uc010rew.1_Missense_Mutation_p.V496M|PAMR1_uc010rex.1_Missense_Mutation_p.V567M	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	607	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGGCTCCTCACGTCTGCCAGG	0.617		NaN											0	0	0	0.008291	0	10	56				
SPRYD5	84767	broad.mit.edu	37	11	55653304	55653304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:55653304G>T	uc010rip.1	+	2	492	c.400G>T	c.(400-402)GAG>TAG	p.E134*	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	134						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GTGGGCTGCTGAGGAACGCCG	0.478		NaN											1	0	2.0095e-06	0.001984	2.06803e-06	7	36				
C11orf80	79703	broad.mit.edu	37	11	66605889	66605889	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:66605889G>A	uc001ojf.2	+	15	1727	c.1720G>A	c.(1720-1722)GAT>AAT	p.D574N	C11orf80_uc001ojg.2_Missense_Mutation_p.D341N|C11orf80_uc001ojh.2_Missense_Mutation_p.D342N|C11orf80_uc001oji.2_Missense_Mutation_p.D342N|C11orf80_uc010rpl.1_Missense_Mutation_p.D208N|C11orf80_uc001ojj.2_Missense_Mutation_p.D172N	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	419											0						GGACGCACCTGATAACAGCAG	0.443		NaN											0	0	0	0.008291	0	11	58				
ACY3	91703	broad.mit.edu	37	11	67414351	67414351	+	Missense_Mutation	SNP	G	G	C	rs145934175		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:67414351G>C	uc001omq.2	-	3	335	c.164C>G	c.(163-165)CCG>CGG	p.P55R		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	55					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	TGTGGCTGCCGGGTTGGCCAG	0.662		NaN											0	0	0	0.004482	0	8	24				
ODZ4	26011	broad.mit.edu	37	11	78399233	78399233	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:78399233G>T	uc001ozl.3	-	29	5589	c.5126C>A	c.(5125-5127)CCT>CAT	p.P1709H	ODZ4_uc009yvb.1_Missense_Mutation_p.P293H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1709	YD 4.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CTGGCCAGTAGGGAAGGTCAC	0.507		NaN											1	0	2.81731e-10	0.010818	2.9715e-10	31	182				
SIK2	23235	broad.mit.edu	37	11	111558772	111558772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:111558772A>T	uc001plt.2	+	4	482	c.364A>T	c.(364-366)AAA>TAA	p.K122*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	122	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						AGCCAGGCGAAAATTCTGGCA	0.403		NaN											0	0	0	0.020292	0	13	56				
MLL	4297	broad.mit.edu	37	11	118382708	118382708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:118382708C>G	uc001pta.2	+	31	11128	c.11105C>G	c.(11104-11106)TCA>TGA	p.S3702*	MLL_uc001ptb.2_Nonsense_Mutation_p.S3705*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3702	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAAGCTCGATCAAATGCCCGC	0.428		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.001984	0	7	38		Valid		
OR8D1	283159	broad.mit.edu	37	11	124179947	124179947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124179947C>T	uc010sag.1	-	1	716	c.716G>A	c.(715-717)GGA>GAA	p.G239E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTGCATGTTCCAAAAGCTTT	0.517		NaN											0	0	0	0.028581	0	17	57				
OR8B2	26595	broad.mit.edu	37	11	124252654	124252654	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124252654C>T	uc010sai.1	-	1	586	c.586G>A	c.(586-588)GAG>AAG	p.E196K		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAACCACCTCGTTGACATAG	0.433		NaN											0	0	0	0.007413	0	18	83				
ARHGAP32	9743	broad.mit.edu	37	11	128840032	128840032	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:128840032C>T	uc009zcp.2	-	22	5034	c.5034G>A	c.(5032-5034)TTG>TTA	p.L1678L	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.L637L|ARHGAP32_uc001qez.2_Silent_p.L1329L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1678	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAAGGGGTCTCAACTGGACTG	0.512		NaN											0	0	0	0.014323	0	23	103				
CD69	969	broad.mit.edu	37	12	9913402	9913402	+	Silent	SNP	A	A	G	rs149884332	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:9913402A>G	uc001qwk.2	-	1	96	c.15T>C	c.(13-15)AAT>AAC	p.N5N	CD69_uc010sgu.1_Silent_p.N5N|CD69_uc010sgv.1_Silent_p.N5N	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	5	Cytoplasmic (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						CTACGAAACAATTTTCAGAGC	0.408		NaN											0	0	0	0.024245	0	14	88				
CPNE8	144402	broad.mit.edu	37	12	39047685	39047685	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:39047685C>T	uc001rls.1	-	20	1778	c.1694G>A	c.(1693-1695)TGA>TAA	p.*565*	CPNE8_uc001rlr.1_Silent_p.*224*	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	565										pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAGCACAGTCATATTTGAGT	0.458		NaN											0	0	0	0.001984	0	7	30				
ARID2	196528	broad.mit.edu	37	12	46125015	46125015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:46125015C>T	uc001ros.1	+	3	202	c.202C>T	c.(202-204)CAG>TAG	p.Q68*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q68*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	68	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGAAGAATCAGTGGGGAGA	0.378		NaN											0	0	0	0.028581	0	16	64		Valid		
H1FNT	341567	broad.mit.edu	37	12	48723522	48723522	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:48723522G>A	uc001rrm.2	+	1	760	c.448G>A	c.(448-450)GCG>ACG	p.A150T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						GACCCCAGCCGCGCCCCGGAG	0.706		NaN											0	0	0	0.001984	0	7	24				
MLL2	8085	broad.mit.edu	37	12	49444142	49444142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:49444142T>A	uc001rta.3	-	11	3229	c.3229A>T	c.(3229-3231)AAA>TAA	p.K1077*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1077	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTGAAACTTTCTCAGTCTCC	0.617		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.014758	0	5	24				
SILV	6490	broad.mit.edu	37	12	56349288	56349288	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56349288G>C	uc001sip.2	-	9	1753	c.1722C>G	c.(1720-1722)ACC>ACG	p.T574T	SILV_uc001siq.2_Silent_p.T574T|SILV_uc010spx.1_Silent_p.T488T|SILV_uc001sir.2_Silent_p.T574T	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	574	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CCAGGCTGTTGGTATCAGCCA	0.582		NaN											0	0	0	0.024245	0	16	73				
ANKRD52	283373	broad.mit.edu	37	12	56647181	56647181	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56647181C>T	uc001skm.3	-	10	1081	c.991G>A	c.(991-993)GAG>AAG	p.E331K		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	331	ANK 10.						protein binding			ovary(2)	2						CAATCAATCTCGCTGCCTGTG	0.532		NaN											0	0	0	0.006122	0	17	72				
BEST3	144453	broad.mit.edu	37	12	70070717	70070717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:70070717G>A	uc001svg.2	-	7	1073	c.846C>T	c.(844-846)TTC>TTT	p.F282F	BEST3_uc001svd.1_Silent_p.F282F|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.F176F|BEST3_uc001svh.2_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	282	Helical; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCATAGAAGAAGAATTGTA	0.473		NaN											0	0	0	0.00632	0	28	147				
NDUFA12	55967	broad.mit.edu	37	12	95397387	95397387	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:95397387G>T	uc001tdl.2	-	1	125	c.70C>A	c.(70-72)CTA>ATA	p.L24I		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	13kDa differentiation-associated protein	24					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	AAAACCCGTAGATAGCCTCGG	0.637		NaN											1	0	5.91797e-21	0.012213	6.43389e-21	30	168				
C12orf63	374467	broad.mit.edu	37	12	97159026	97159026	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:97159026A>G	uc001tet.1	+	27	3664	c.3586A>G	c.(3586-3588)AAA>GAA	p.K1196E		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1196										skin(6)|ovary(1)	7						TATTATGCAAAAAAACTGATA	0.343		NaN											0	0	0	0.014758	0	5	27				
ANO4	121601	broad.mit.edu	37	12	101333128	101333128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:101333128G>A	uc010svm.1	+	4	768	c.196G>A	c.(196-198)GAA>AAA	p.E66K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.E31K|ANO4_uc001thx.2_Missense_Mutation_p.E66K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	66	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TGATGAATTAGAAGCTGTCAG	0.413		NaN								HNSCC(74;0.22)			0	0	0	0.024334	0	26	74				
DTX1	1840	broad.mit.edu	37	12	113532886	113532886	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:113532886G>A	uc001tuk.1	+	7	1762	c.1426G>A	c.(1426-1428)GGG>AGG	p.G476R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	476					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGCCATCTACGGGGAGAAGAC	0.652		NaN											0	0	0	0.016723	0	14	82				
LRRC43	254050	broad.mit.edu	37	12	122670812	122670812	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:122670812G>A	uc009zxm.2	+	3	512	c.487G>A	c.(487-489)GAG>AAG	p.E163K	LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	163	LRR 1.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGAATCAAGGAGGTGGATGC	0.562		NaN											0	0	0	0.004672	0	3	11				
POU4F1	5457	broad.mit.edu	37	13	79176005	79176005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:79176005C>G	uc001vkv.2	-	2	1039	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	269	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGAACGCCTCGAGCTCGCGC	0.587		NaN											0	0	0	0.014758	0	5	23				
RAB20	55647	broad.mit.edu	37	13	111176499	111176499	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:111176499G>A	uc001vqy.2	-	2	423	c.218C>T	c.(217-219)GCG>GTG	p.A73V		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607		NaN											0	0	0	0.008361	0	29	81				
NDRG2	57447	broad.mit.edu	37	14	21486650	21486650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:21486650G>C	uc001vyy.2	-	14	977	c.827C>G	c.(826-828)TCA>TGA	p.S276*	NDRG2_uc010tll.1_Nonsense_Mutation_p.S272*|NDRG2_uc001vyt.2_Nonsense_Mutation_p.S189*|NDRG2_uc001vyu.2_Nonsense_Mutation_p.S233*|NDRG2_uc001vyv.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyw.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzb.2_Nonsense_Mutation_p.S216*|NDRG2_uc001vyx.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vza.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyz.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzd.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzg.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzf.2_Nonsense_Mutation_p.S262*|NDRG2_uc010aig.2_Nonsense_Mutation_p.S265*	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	276					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GTCCAGTTTTGAGTTACATTC	0.577		NaN											0	0	0	0.00308	0	8	31				
RIPK3	11035	broad.mit.edu	37	14	24808466	24808466	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:24808466C>G	uc001wpb.2	-	3	436	c.226G>C	c.(226-228)GAA>CAA	p.E76Q	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.E76Q	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	76	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		ATAACCCCTTCTAGGCGCAGC	0.572		NaN											0	0	0	0.016522	0	22	91				
ZFYVE26	23503	broad.mit.edu	37	14	68228128	68228128	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:68228128C>T	uc001xka.2	-	35	6682	c.6543G>A	c.(6541-6543)GTG>GTA	p.V2181V	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.V27V|ZFYVE26_uc001xkc.3_Silent_p.V2181V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2181					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTGTGCCTCACGTAGAAGC	0.517		NaN											0	0	0	0.021553	0	6	24				
NUMB	8650	broad.mit.edu	37	14	73753886	73753886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:73753886C>G	uc001xny.1	-	9	907	c.587G>C	c.(586-588)CGT>CCT	p.R196P	NUMB_uc010aro.1_Missense_Mutation_p.R196P|NUMB_uc010arp.1_Missense_Mutation_p.R185P|NUMB_uc010arq.1_Missense_Mutation_p.R196P|NUMB_uc010arr.1_Missense_Mutation_p.R185P|NUMB_uc001xoa.1_Missense_Mutation_p.R196P|NUMB_uc001xnz.1_Missense_Mutation_p.R185P|NUMB_uc001xob.1_Missense_Mutation_p.R185P|NUMB_uc001xod.1_Missense_Mutation_p.R196P|NUMB_uc001xoc.1_Missense_Mutation_p.R196P|NUMB_uc010ars.1_Missense_Mutation_p.R185P|NUMB_uc001xof.1_Missense_Mutation_p.R160P|NUMB_uc001xog.2_Missense_Mutation_p.R185P|NUMB_uc001xoh.1_Missense_Mutation_p.R185P|NUMB_uc010ttz.1_5'Flank	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	196					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGTTGTGACACGGAATGATCC	0.448		NaN											0	0	0	0.028581	0	14	83				
BAG5	9529	broad.mit.edu	37	14	104027261	104027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:104027261C>G	uc001yni.1	-	2	475	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E122Q|BAG5_uc001ynj.1_Missense_Mutation_p.E81Q|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	81	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCTCCAACTCTTTGAGAAGA	0.428		NaN											0	0	0	0.008361	0	24	109				
PLCB2	5330	broad.mit.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:40594185G>C	uc001zld.2	-	7	856	c.555C>G	c.(553-555)CTC>CTG	p.L185L	PLCB2_uc010bbo.2_Silent_p.L185L|PLCB2_uc010ucm.1_Silent_p.L185L|PLCB2_uc001zle.3_Silent_p.L185L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567		NaN											0	0	0	0.020292	0	15	62				
INO80	54617	broad.mit.edu	37	15	41388442	41388442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:41388442G>A	uc001zni.2	-	2	280	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCCAAGTACTGAAGATAGAGG	0.483		NaN											0	0	0	0.021553	0	5	51				
TLN2	83660	broad.mit.edu	37	15	62993399	62993399	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:62993399T>G	uc002alb.3	+	14	1682	c.1682T>G	c.(1681-1683)GTT>GGT	p.V561G		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	561					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCTTCAGTTGTTAACCTCACA	0.403		NaN											0	0	0	0.014758	0	5	43				
MYO9A	4649	broad.mit.edu	37	15	72186022	72186022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72186022C>G	uc002atl.3	-	26	5613	c.5140G>C	c.(5140-5142)GAG>CAG	p.E1714Q	MYO9A_uc002atn.1_Missense_Mutation_p.E1695Q|MYO9A_uc002atk.2_Missense_Mutation_p.E438Q|MYO9A_uc002atm.1_Missense_Mutation_p.E438Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1714	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AAACTTACCTCTCTTTGGCCT	0.368		NaN											0	0	0	0.001984	0	7	34				
SENP8	123228	broad.mit.edu	37	15	72432366	72432366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72432366G>C	uc002atp.2	+	2	501	c.402G>C	c.(400-402)GAG>GAC	p.E134D		NM_145204	NP_660205	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	134	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2						AGGTAGCAGAGAAACTGGAGG	0.453		NaN											0	0	0	0.010729	0	11	74				
MCTP2	55784	broad.mit.edu	37	15	94857556	94857556	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:94857556C>T	uc002btj.2	+	2	576	c.511C>T	c.(511-513)CAT>TAT	p.H171Y	MCTP2_uc010urg.1_Missense_Mutation_p.H171Y|MCTP2_uc002bti.2_Missense_Mutation_p.H171Y|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.H171Y|MCTP2_uc002btg.3_Missense_Mutation_p.H171Y|MCTP2_uc002bth.3_Missense_Mutation_p.H171Y	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	171					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACATCTCAACATTTTGAAGA	0.318		NaN											0	0	0	0.009096	0	4	21				
CHSY1	22856	broad.mit.edu	37	15	101718791	101718791	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:101718791G>A	uc002bwt.1	-	4	1694	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	CHSY1_uc010usd.1_Missense_Mutation_p.A132V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	404	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGTCCAAGGCTTCCCTCTG	0.532		NaN											0	0	0	0.007413	0	19	91				
ALG1	56052	broad.mit.edu	37	16	5123174	5123174	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:5123174T>C	uc002cym.2	+	3	348	c.307T>C	c.(307-309)TAC>CAC	p.Y103H	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Y103H|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	103	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AGTTTTCCAGTACGGAGTCAA	0.517		NaN											0	0	0	0.028581	0	15	50				
PLCG2	5336	broad.mit.edu	37	16	81888168	81888168	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:81888168G>A	uc002fgt.2	+	3	465	c.313G>A	c.(313-315)GTC>ATC	p.V105I	PLCG2_uc010chg.1_Missense_Mutation_p.V105I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	105	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CACTCAGTTCGTCCTCAGCAC	0.498		NaN											0	0	0	0.023175	0	35	121				
ATP1B2	482	broad.mit.edu	37	17	7557218	7557218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7557218G>A	uc002gif.1	+	3	884	c.301G>A	c.(301-303)GAA>AAA	p.E101K		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	101	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAGTGACACTGAAAGCTGGGA	0.498		NaN											0	0	0	0.006122	0	19	84				
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7577082C>A	uc002gim.2	-	8	1050	c.856G>T	c.(856-858)GAA>TAA	p.E286*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E286*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E154*|TP53_uc010cng.1_Nonsense_Mutation_p.E154*|TP53_uc002gii.1_Nonsense_Mutation_p.E154*|TP53_uc010cnh.1_Nonsense_Mutation_p.E286*|TP53_uc010cni.1_Nonsense_Mutation_p.E286*|TP53_uc002gij.2_Nonsense_Mutation_p.E286*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	6.94344e-10	0.006122	7.25128e-10	19	53		Valid		
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7578534C>G	uc002gim.2	-	5	590	c.396G>C	c.(394-396)AAG>AAC	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	132	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.013537	0	11	54		Valid		
RICH2	9912	broad.mit.edu	37	17	12819241	12819241	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819241G>C	uc002gnr.3	+	5	627	c.300G>C	c.(298-300)GAG>GAC	p.E100D	RICH2_uc010vvk.1_Missense_Mutation_p.E100D|RICH2_uc010vvl.1_Missense_Mutation_p.E100D|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E100D|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	100	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCTGTGGAGAGACGGAGGACA	0.493		NaN											0	0	0	0.013537	0	12	27				
RICH2	9912	broad.mit.edu	37	17	12819326	12819326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819326G>A	uc002gnr.3	+	5	712	c.385G>A	c.(385-387)GAG>AAG	p.E129K	RICH2_uc010vvk.1_Missense_Mutation_p.E129K|RICH2_uc010vvl.1_Missense_Mutation_p.E129K|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E129K|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	129	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTTGCTGGCGGAGGTAAGCAG	0.512		NaN											0	0	0	0.00308	0	8	26				
LGALS9C	654346	broad.mit.edu	37	17	18394613	18394613	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:18394613G>A	uc002gtw.2	+	7	673	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q	LGALS9C_uc010vyb.1_Silent_p.Q113Q	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	201							sugar binding			ovary(1)	1						ACACGGTGCAGAGTGCCTCTG	0.542		NaN											0	0	0	0.010818	0	30	168				
ACCN1	40	broad.mit.edu	37	17	32483149	32483149	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:32483149C>T	uc002hhu.2	-	1	677	c.403G>A	c.(403-405)GAG>AAG	p.E135K		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	135	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CGCAGGGCCTCCAGCACGGAG	0.597		NaN											0	0	0	0.027356	0	26	119				
KRT9	3857	broad.mit.edu	37	17	39727637	39727637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:39727637G>A	uc002hxe.3	-	1	674	c.608C>T	c.(607-609)CCT>CTT	p.P203L	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	203	Rod.|Linker 1.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				GTTATAATAAGGGGAGTAGTT	0.443		NaN											0	0	0	0.007291	0	30	143				
MFSD11	79157	broad.mit.edu	37	17	74774367	74774367	+	Missense_Mutation	SNP	C	C	T	rs3198672		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774367C>T	uc002jta.2	+	14	2256	c.1283C>T	c.(1282-1284)TCT>TTT	p.S428F	MFSD11_uc002jtb.2_Missense_Mutation_p.S428F|MFSD11_uc010dha.2_Missense_Mutation_p.S376F|MFSD11_uc002jtc.2_Missense_Mutation_p.S428F|MFSD11_uc002jtd.3_Missense_Mutation_p.S428F|MFSD11_uc010dhb.2_Missense_Mutation_p.S376F|MFSD11_uc002jte.2_Missense_Mutation_p.S428F	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	428	Helical; (Potential).					integral to membrane				ovary(1)	1						GGAACAATTTCTTTCTTCACT	0.493		NaN											0	0	0	0.010729	0	11	79				
MFSD11	79157	broad.mit.edu	37	17	74774374	74774374	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774374C>T	uc002jta.2	+	14	2263	c.1290C>T	c.(1288-1290)TTC>TTT	p.F430F	MFSD11_uc002jtb.2_Silent_p.F430F|MFSD11_uc010dha.2_Silent_p.F378F|MFSD11_uc002jtc.2_Silent_p.F430F|MFSD11_uc002jtd.3_Silent_p.F430F|MFSD11_uc010dhb.2_Silent_p.F378F|MFSD11_uc002jte.2_Silent_p.F430F	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	430	Helical; (Potential).					integral to membrane				ovary(1)	1						TTTCTTTCTTCACTGTGGAAT	0.498		NaN											0	0	0	0.016723	0	11	81				
P4HB	5034	broad.mit.edu	37	17	79803505	79803505	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79803505C>G	uc002kbn.1	-	9	1488	c.1291G>C	c.(1291-1293)GAG>CAG	p.E431Q	P4HB_uc002kbl.1_Missense_Mutation_p.E108Q|P4HB_uc002kbm.1_Missense_Mutation_p.E108Q	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	431	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCCTCCACCTCGTTGGCAGTC	0.582		NaN											0	0	0	0.009096	0	4	25				
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79804359C>T	uc002kbn.1	-	7	1199	c.1002G>A	c.(1000-1002)CTG>CTA	p.L334L	P4HB_uc002kbl.1_Silent_p.L11L|P4HB_uc002kbm.1_Silent_p.L11L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTCTGCCGTCAGCTCCTCCG	0.632		NaN											0	0	0	0.007291	0	28	129				
VAPA	9218	broad.mit.edu	37	18	9931810	9931810	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:9931810C>T	uc002kok.2	+	2	382	c.83C>T	c.(82-84)CCC>CTC	p.P28L	VAPA_uc002koj.2_Missense_Mutation_p.P28L	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	28	Cytoplasmic (Potential).|MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						TTTACAGGCCCCTTCACAGAT	0.333		NaN											0	0	0	0.010504	0	21	88				
CABLES1	91768	broad.mit.edu	37	18	20832925	20832925	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:20832925C>A	uc002kuc.2	+	8	1448	c.1448C>A	c.(1447-1449)ACA>AAA	p.T483K	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.T218K	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	483	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGTTACAGACAACAGTGATT	0.438		NaN											1	0	5.50884e-06	0.013537	5.6419e-06	11	44				
KEAP1	9817	broad.mit.edu	37	19	10610363	10610363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:10610363C>G	uc002moq.1	-	2	503	c.347G>C	c.(346-348)CGG>CCG	p.R116P	KEAP1_uc002mor.1_Missense_Mutation_p.R116P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	116	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCCTGCTCCCGCAGCCCGTT	0.612		NaN											0	0	0	0.008291	0	11	58				
CACNA1A	773	broad.mit.edu	37	19	13476201	13476201	+	Silent	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:13476201A>G	uc010dze.2	-	5	950	c.714T>C	c.(712-714)CTT>CTC	p.L238L	CACNA1A_uc002mwy.3_Silent_p.L238L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	238	I.|Helical; Name=S5 of repeat I; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGCAAAAATAAGGATTGCAA	0.458		NaN											0	0	0	0.016723	0	14	95				
CPAMD8	27151	broad.mit.edu	37	19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17088246C>T	uc002nfb.2	-	15	1863	c.1831G>A	c.(1831-1833)GTC>ATC	p.V611I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	564						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTCTCCCTGACGTAGAAGACC	0.592		NaN											0	0	0	0.00499	0	16	94				
PLVAP	83483	broad.mit.edu	37	19	17476791	17476791	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17476791C>T	uc002ngk.1	-	3	533	c.483G>A	c.(481-483)CTG>CTA	p.L161L		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	161	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCTTCTGATTCAGCATGAAGA	0.572		NaN											0	0	0	0.010729	0	12	58				
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17487766C>T	uc002ngk.1	-	1	382	c.332G>A	c.(331-333)CGC>CAC	p.R111H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	111	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGCATTGATGCGGTCCAGGTC	0.488		NaN											0	0	0	0.010729	0	12	66				
IL12RB1	3594	broad.mit.edu	37	19	18174767	18174767	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18174767C>T	uc002nhw.1	-	13	1601	c.1537G>A	c.(1537-1539)GGT>AGT	p.G513S	IL12RB1_uc010xqb.1_Missense_Mutation_p.G513S|IL12RB1_uc002nhx.1_Missense_Mutation_p.G553S	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	513	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TAGGCTACACCAGCCCGCAGG	0.637		NaN											0	0	0	0.001984	0	6	29				
ISYNA1	51477	broad.mit.edu	37	19	18547041	18547041	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18547041G>A	uc002njd.1	-	7	826	c.776C>T	c.(775-777)TCG>TTG	p.S259L	ISYNA1_uc002nja.1_Missense_Mutation_p.S131L|ISYNA1_uc002njb.1_Missense_Mutation_p.S177L|ISYNA1_uc002njc.1_Missense_Mutation_p.S109L|ISYNA1_uc010xqh.1_Missense_Mutation_p.S57L|ISYNA1_uc002nje.1_Missense_Mutation_p.S205L|ISYNA1_uc002njf.1_Missense_Mutation_p.S109L	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	259					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						CGTGGAGGGCGACACCTCCAG	0.677		NaN											0	0	0	0.001984	0	7	48				
MLL4	9757	broad.mit.edu	37	19	36221656	36221656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:36221656G>A	uc010eei.2	+	27	5325	c.5325G>A	c.(5323-5325)TGG>TGA	p.W1775*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1775	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCGCTGCTGGTATCGGTGCC	0.597		NaN											0	0	0	0.008291	0	11	70		Valid		
ZNF404	342908	broad.mit.edu	37	19	44378165	44378165	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:44378165C>T	uc002oxs.3	-	2	201	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				CCTGATGGTACGCATTTACTT	0.318		NaN											0	0	0	0.008291	0	11	51				
IRF2BP1	26145	broad.mit.edu	37	19	46387808	46387808	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:46387808C>T	uc002pds.1	-	1	1569	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TACGGGCCGCCGGGTGCCACC	0.721		NaN											0	0	0	0.008291	0	10	53				
GRLF1	2909	broad.mit.edu	37	19	47440647	47440647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:47440647G>T	uc010ekv.2	+	2	3808	c.3808G>T	c.(3808-3810)GAG>TAG	p.E1270*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1270	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AAGATGTATTGAGTACATTGA	0.433		NaN											1	0	2.94398e-08	0.007413	3.04451e-08	16	65				
PPFIA3	8541	broad.mit.edu	37	19	49649227	49649227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:49649227G>T	uc002pmr.2	+	22	3105	c.2773G>T	c.(2773-2775)GAG>TAG	p.E925*	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.E793*|PPFIA3_uc002pmt.2_Nonsense_Mutation_p.E73*|PPFIA3_uc002pmu.1_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	925						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GATGACACACGAGGAGATGGA	0.647		NaN									OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.64293e-13	0.01892	1.75026e-13	24	130				
MYBPC2	4606	broad.mit.edu	37	19	50939937	50939937	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:50939937G>C	uc002psf.2	+	5	460	c.409G>C	c.(409-411)GAG>CAG	p.E137Q		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	137	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTACCGCCTCGAGGTCAAAGC	0.612		NaN											0	0	0	0.021523	0	24	115				
ADAM17	6868	broad.mit.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:9637283G>A	uc002qzu.2	-	14	1926	c.1743C>T	c.(1741-1743)TTC>TTT	p.F581F	ADAM17_uc010ewy.2_Silent_p.F581F|ADAM17_uc010ewz.2_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	581	Extracellular (Potential).|Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507		NaN											0	0	0	0.008361	0	31	79				
IFT172	26160	broad.mit.edu	37	2	27706492	27706492	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:27706492G>C	uc002rku.2	-	6	488	c.437C>G	c.(436-438)TCT>TGT	p.S146C	IFT172_uc002rkw.2_Missense_Mutation_p.S146C|IFT172_uc010yls.1_Missense_Mutation_p.S125C|IFT172_uc010ezc.2_Missense_Mutation_p.S146C|IFT172_uc002rkv.2_Missense_Mutation_p.S146C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	146	WD 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATAGATGGTAGATGATTTATT	0.368		NaN											0	0	0	0.00499	0	16	47				
SPTBN1	6711	broad.mit.edu	37	2	54870186	54870186	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:54870186C>G	uc002rxu.2	+	19	4174	c.3925C>G	c.(3925-3927)CTG>GTG	p.L1309V	SPTBN1_uc002rxx.2_Missense_Mutation_p.L1296V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1309	Spectrin 10.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGCCAGAAATCTGCACAGTAA	0.413		NaN											0	0	0	0.00499	0	18	92				
LONRF2	164832	broad.mit.edu	37	2	100903457	100903457	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:100903457C>G	uc002tal.3	-	11	2629	c.1989G>C	c.(1987-1989)TGG>TGC	p.W663C	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	663	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						GAGACGCGAACCAGGAAACAG	0.498		NaN											0	0	0	0.006214	0	10	67				
ARHGEF4	50649	broad.mit.edu	37	2	131704110	131704110	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:131704110C>T	uc002tsa.1	+	4	849	c.329C>T	c.(328-330)CCA>CTA	p.P110L	ARHGEF4_uc010fmw.1_Missense_Mutation_p.P756L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.P110L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.P110L|ARHGEF4_uc002trz.1_Missense_Mutation_p.P756L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	110	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ATTACCTCTCCAGAGTCTTTG	0.522		NaN											0	0	0	0.006122	0	18	129				
TTN	7273	broad.mit.edu	37	2	179666927	179666927	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:179666927T>C	uc002und.2	-	3	458	c.233A>G	c.(232-234)TAT>TGT	p.Y78C	TTN_uc010zfg.1_Missense_Mutation_p.Y78C|TTN_uc010zfh.1_Missense_Mutation_p.Y78C|TTN_uc010zfi.1_Missense_Mutation_p.Y78C|TTN_uc010zfj.1_Missense_Mutation_p.Y78C|TTN_uc002unb.2_Missense_Mutation_p.Y78C			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	78							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGGGAATATCGTCCACT	0.562		NaN											0	0	0	0.01892	0	21	108				
MFF	56947	broad.mit.edu	37	2	228195544	228195544	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:228195544G>A	uc002vos.2	+	4	659	c.241G>A	c.(241-243)GAG>AAG	p.E81K	MFF_uc002vot.2_Missense_Mutation_p.E55K|MFF_uc002vou.2_Missense_Mutation_p.E81K|MFF_uc002vov.2_Missense_Mutation_p.E55K|MFF_uc002vow.2_Missense_Mutation_p.E55K|MFF_uc002vox.2_Missense_Mutation_p.E55K|MFF_uc002voy.2_Missense_Mutation_p.E81K|MFF_uc002voz.2_Missense_Mutation_p.E55K	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	81	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						GCAAGTTCCGGAGAGGATTGT	0.388		NaN											0	0	0	0.006214	0	9	29				
TRIB3	57761	broad.mit.edu	37	20	377161	377161	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:377161G>A	uc002wdm.2	+	4	1410	c.904G>A	c.(904-906)GAA>AAA	p.E302K	TRIB3_uc002wdn.2_Missense_Mutation_p.E329K	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	302	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCAGCTGAACGGCTCAC	0.687		NaN											0	0	0	0.00499	0	17	101				
KIF16B	55614	broad.mit.edu	37	20	16360474	16360474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:16360474G>A	uc002wpg.1	-	19	2331	c.2173C>T	c.(2173-2175)CAG>TAG	p.Q725*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q107*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q107*|KIF16B_uc010gch.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gci.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.Q736*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	725	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TGAAATATCTGAAACTTCTCA	0.443		NaN											0	0	0	0.008361	0	29	108				
MYT1	4661	broad.mit.edu	37	20	62836958	62836958	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:62836958G>A	uc002yii.2	+	6	566	c.202G>A	c.(202-204)GAG>AAG	p.E68K	MYT1_uc002yih.2_Missense_Mutation_p.E68K|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	68					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCTGAGGCTGAGCACCTGGT	0.622		NaN											0	0	0	0.028581	0	15	74				
KRTAP26-1	388818	broad.mit.edu	37	21	31691783	31691783	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:31691783T>A	uc002ynw.2	-	1	825	c.571A>T	c.(571-573)AGT>TGT	p.S191C		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	191						intermediate filament				ovary(1)	1						TGGCAACCACTGAACAGAGGC	0.532		NaN											0	0	0	0.01441	0	54	314				
HUNK	30811	broad.mit.edu	37	21	33371331	33371331	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:33371331G>A	uc002yph.2	+	11	2339	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	660					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GTGAAAAGCCGAGGCCGGTTC	0.612		NaN											0	0	0	0.024245	0	16	97				
AGPAT3	56894	broad.mit.edu	37	21	45389127	45389127	+	Silent	SNP	G	G	A	rs115875072	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:45389127G>A	uc002zdv.2	+	5	699	c.477G>A	c.(475-477)CTG>CTA	p.L159L	AGPAT3_uc002zdw.2_Silent_p.L159L|AGPAT3_uc002zdx.2_Silent_p.L246L|AGPAT3_uc002zdy.2_Silent_p.L97L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	159	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCGAAGGGCTGAGGCGCCTGT	0.632		NaN											0	0	0	0.008361	0	29	86				
ARVCF	421	broad.mit.edu	37	22	19960805	19960805	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:19960805G>A	uc002zqz.2	-	14	2546	c.2275C>T	c.(2275-2277)CGC>TGC	p.R759C	ARVCF_uc002zqy.2_Missense_Mutation_p.R275C	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	759	ARM 9.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TGTGCATTGCGCACATTCCGC	0.637		NaN											0	0	0	0.014758	0	5	20				
MYO18B	84700	broad.mit.edu	37	22	26193971	26193971	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:26193971A>G	uc003abz.1	+	12	2678	c.2428A>G	c.(2428-2430)ATG>GTG	p.M810V	MYO18B_uc003aca.1_Missense_Mutation_p.M691V|MYO18B_uc010guy.1_Missense_Mutation_p.M691V|MYO18B_uc010guz.1_Missense_Mutation_p.M691V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.M323V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCAGGGTGCCATGGAGATGCT	0.617		NaN											0	0	0	0.021553	0	6	128				
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:37465272C>G	uc003aqs.1	-	16	2095	c.1981G>C	c.(1981-1983)GAA>CAA	p.E661Q	TMPRSS6_uc003aqt.1_Missense_Mutation_p.E652Q	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGTCCTCTTCGTGGTACGGG	0.692		NaN											0	0	0	0.014758	0	4	21				
PICK1	9463	broad.mit.edu	37	22	38470962	38470962	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:38470962C>G	uc003auq.2	+	13	1461	c.1071C>G	c.(1069-1071)GTC>GTG	p.V357V	PICK1_uc003aur.2_Silent_p.V357V|PICK1_uc003aus.2_Silent_p.V357V|PICK1_uc003aut.2_Silent_p.V357V	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	357	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					ATGCCGACGTCTTCCCCATCG	0.532		NaN											0	0	0	0.024245	0	16	59				
CACNA1I	8911	broad.mit.edu	37	22	40030684	40030684	+	Missense_Mutation	SNP	C	C	A	rs61417992		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:40030684C>A	uc003ayc.2	+	5	695	c.695C>A	c.(694-696)GCG>GAG	p.A232E	CACNA1I_uc003ayd.2_Missense_Mutation_p.A232E|CACNA1I_uc003aye.2_Missense_Mutation_p.A147E|CACNA1I_uc003ayf.2_Missense_Mutation_p.A147E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	232	I.|Helical; Name=S5 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGCTCTGGGCGGGCCTGCTG	0.562		NaN											1	0	3.62473e-10	0.012319	3.80417e-10	21	134				
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635868G>C	uc003cnl.1	+	3	516	c.183G>C	c.(181-183)CAG>CAC	p.Q61H		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438		NaN											0	0	0	0.016723	0	14	42				
ZNF660	285349	broad.mit.edu	37	3	44635933	44635933	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635933G>C	uc003cnl.1	+	3	581	c.248G>C	c.(247-249)TGT>TCT	p.C83S		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	83	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTAAGGAGTGTGGAAAAGCT	0.443		NaN											0	0	0	0.00499	0	15	44				
PRICKLE2	166336	broad.mit.edu	37	3	64132828	64132828	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:64132828G>A	uc003dmf.2	-	7	1924	c.1338C>T	c.(1336-1338)TTC>TTT	p.F446F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	446						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGGGTTGCTGAAGTGCTTGC	0.582		NaN											0	0	0	0.008361	0	30	79				
ABI3BP	25890	broad.mit.edu	37	3	100566463	100566463	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:100566463G>A	uc003dun.2	-	17	1590	c.1505C>T	c.(1504-1506)CCT>CTT	p.P502L	ABI3BP_uc003duo.2_Missense_Mutation_p.P544L|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	502	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TGTCCATGTAGGTTCAGGGCT	0.373		NaN											0	0	0	0.01441	0	86	113				
SENP7	57337	broad.mit.edu	37	3	101060534	101060534	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:101060534T>C	uc003dut.2	-	15	2307	c.2196A>G	c.(2194-2196)CCA>CCG	p.P732P	SENP7_uc003duu.2_Silent_p.P667P|SENP7_uc003duv.2_Silent_p.P699P|SENP7_uc003duw.2_Silent_p.P666P|SENP7_uc003dux.2_Silent_p.P568P	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	732					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATTCTTCATCTGGATTAGATG	0.433		NaN											0	0	0	0.027356	0	28	38				
GOLIM4	27333	broad.mit.edu	37	3	167750586	167750586	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:167750586C>T	uc003ffe.2	-	9	1242	c.898G>A	c.(898-900)GAA>AAA	p.E300K	GOLIM4_uc011bpe.1_Missense_Mutation_p.E300K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E272K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E272K	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	300	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TTTGTGTCTTCTGCTCTTCCA	0.483		NaN											0	0	0	0.01441	0	57	78				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:178936095A>G	uc003fjk.2	+	10	1794	c.1637A>G	c.(1636-1638)CAG>CGG	p.Q546R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.00632	0	27	32		Valid		
RFC4	5984	broad.mit.edu	37	3	186512453	186512453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:186512453C>T	uc003fqz.2	-	5	627	c.404G>A	c.(403-405)CGC>CAC	p.R135H	RFC4_uc011bsc.1_Missense_Mutation_p.R135H|RFC4_uc011bsd.1_Missense_Mutation_p.R135H	NM_002916	NP_002907	P35249	RFC4_HUMAN	replication factor C 4	135					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTACTCTGAGCGACTTCCTGA	0.303		NaN											0	0	0	0.016723	0	13	56				
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:7770734G>A	uc003gkg.1	-	16	2276	c.2003C>T	c.(2002-2004)TCT>TTT	p.S668F	AFAP1_uc011bwk.1_Missense_Mutation_p.S752F|LOC84740_uc003gkd.3_Intron	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GAACACTGGAGACTTAACGGA	0.547		NaN											0	0	0	0.013726	0	32	175				
SEL1L3	23231	broad.mit.edu	37	4	25836912	25836912	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:25836912G>C	uc003gru.3	-	3	919	c.767C>G	c.(766-768)TCC>TGC	p.S256C		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	256						integral to membrane	binding				0						TTCTCCACTGGAGGCATAAGG	0.488		NaN											0	0	0	0.021523	0	26	100				
COX7B2	170712	broad.mit.edu	37	4	46737107	46737107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:46737107G>C	uc003gxf.2	-	3	283	c.103C>G	c.(103-105)CAT>GAT	p.H35D	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	35	Helical; (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						TATTTATCATGAAAATCTGGT	0.423		NaN											0	0	0	0.004482	0	8	76				
LIN54	132660	broad.mit.edu	37	4	83905979	83905979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:83905979C>T	uc003hnx.3	-	2	397	c.19G>A	c.(19-21)GAG>AAG	p.E7K	LIN54_uc003hnz.3_Missense_Mutation_p.E7K|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.E7K|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.E7K	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	7					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CTATTCACCTCAGCTGGCACC	0.393		NaN											0	0	0	0.010771	0	42	104				
FHDC1	85462	broad.mit.edu	37	4	153864366	153864366	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:153864366G>A	uc003inf.2	+	1	232	c.157G>A	c.(157-159)GAG>AAG	p.E53K		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	53					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TTCAAGGGAAGAGTGTCCTTC	0.458		NaN											0	0	0	0.00308	0	6	18				
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:187540391G>C	uc003izf.2	-	10	7537	c.7349C>G	c.(7348-7350)TCA>TGA	p.S2450*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2450	Extracellular (Potential).|Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGCAGGTTTGAGAGGGTGAT	0.433		NaN								HNSCC(5;0.00058)			0	0	0	0.01892	0	25	136				
KIAA0947	23379	broad.mit.edu	37	5	5464640	5464640	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:5464640C>G	uc003jdm.3	+	13	5415	c.5193C>G	c.(5191-5193)CTC>CTG	p.L1731L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1731	Pro-rich.									ovary(1)|central_nervous_system(1)	2						CTGGCCGACTCCCACCCTGTG	0.597		NaN											0	0	0	0.001984	0	7	47				
WDR70	55100	broad.mit.edu	37	5	37379600	37379600	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:37379600C>T	uc003jkv.2	+	2	93	c.35C>T	c.(34-36)TCA>TTA	p.S12L	WDR70_uc010iva.1_Missense_Mutation_p.S12L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	12										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGACAGGCTCAGACGCGTCG	0.662		NaN											0	0	0	0.016522	0	23	93				
CCDC125	202243	broad.mit.edu	37	5	68603838	68603838	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68603838G>A	uc003jvv.1	-	4	514	c.471C>T	c.(469-471)GCC>GCT	p.A157A	CCDC125_uc003jvx.1_Silent_p.A156A|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Silent_p.A32A|CCDC125_uc003jvz.1_3'UTR	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157	Potential.					cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGACTTGTGGCTTTGCCCA	0.333		NaN											0	0	0	0.00308	0	7	47				
CCDC125	202243	broad.mit.edu	37	5	68616398	68616398	+	Translation_Start_Site	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68616398A>C	uc003jvv.1	-	1	13	c.-30T>G	c.(-32--28)ATTTT>ATGTT		CCDC125_uc003jvx.1_Translation_Start_Site|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Translation_Start_Site	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CATAAGAAAAAATGGGCTGTC	0.308		NaN											0	0	0	0.008291	0	11	25				
FAM169A	26049	broad.mit.edu	37	5	74077445	74077445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:74077445G>C	uc003kdm.2	-	13	1896	c.1853C>G	c.(1852-1854)TCT>TGT	p.S618C	FAM169A_uc010izm.2_Missense_Mutation_p.S558C|FAM169A_uc003kdl.2_Missense_Mutation_p.S436C	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	618											0						TTGCTCGGAAGATGCTTCAGA	0.468		NaN											0	0	0	0.010504	0	21	134				
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:102432327C>T	uc003koa.1	-	7	1294	c.1212G>A	c.(1210-1212)CTG>CTA	p.L404L	GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	404					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413		NaN											0	0	0	0.011902	0	47	179				
ISOC1	51015	broad.mit.edu	37	5	128430720	128430720	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:128430720C>T	uc003kva.2	+	1	279	c.261C>T	c.(259-261)TTC>TTT	p.F87F		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	87						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCAAGGGCTTCGCGGTGAGCG	0.622		NaN											0	0	0	0.009096	0	4	23				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139838425	139838425	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:139838425G>A	uc003lfs.1	+	8	1582	c.1458G>A	c.(1456-1458)ATG>ATA	p.M486I	ANKHD1_uc003lfq.1_Missense_Mutation_p.M486I|ANKHD1_uc003lfr.2_Missense_Mutation_p.M486I|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.M475I|ANKHD1_uc003lfo.2_Missense_Mutation_p.M486I|ANKHD1_uc010jfk.2_Missense_Mutation_p.M486I	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	486						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAATGGTGGCACTAC	0.398		NaN											0	0	0	0.008291	0	11	79				
PCDHA11	56138	broad.mit.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140250913G>A	uc003lia.2	+	1	3083	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R742H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	742	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677		NaN											0	0	0	0.020292	0	15	56				
C5orf41	153222	broad.mit.edu	37	5	172517948	172517948	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:172517948C>T	uc003mch.2	+	4	1070	c.766C>T	c.(766-768)CAC>TAC	p.H256Y	C5orf41_uc003mcg.2_Missense_Mutation_p.H256Y|C5orf41_uc003mcf.2_Missense_Mutation_p.H256Y|C5orf41_uc011dfd.1_Missense_Mutation_p.H256Y	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	256							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCCAGATTCACACAGATGC	0.468		NaN											0	0	0	0.020292	0	14	56				
NUP153	9972	broad.mit.edu	37	6	17675190	17675190	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:17675190G>A	uc003ncd.1	-	5	998	c.798C>T	c.(796-798)TAC>TAT	p.Y266Y	NUP153_uc011dje.1_Silent_p.Y266Y|NUP153_uc010jpl.1_Silent_p.Y266Y	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	266					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCCCACCGTATGTTGTTT	0.373		NaN											0	0	0	0.00499	0	17	60				
GPLD1	2822	broad.mit.edu	37	6	24429286	24429286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:24429286G>C	uc003ned.1	-	25	2608	c.2497C>G	c.(2497-2499)CAC>GAC	p.H833D		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	833	FG-GAP 7.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CTATAGACGTGAAGTGCCCCG	0.458		NaN											0	0	0	0.00308	0	8	48				
MDC1	9656	broad.mit.edu	37	6	30675515	30675515	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:30675515C>T	uc003nrg.3	-	8	3281	c.2841G>A	c.(2839-2841)CAG>CAA	p.Q947Q	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	947				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						GCTCCCCTCTCTGTGTATCTC	0.592		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.014323	0	24	98				
COL11A2	1302	broad.mit.edu	37	6	33142356	33142356	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:33142356C>T	uc003ocx.1	-	31	2606	c.2378G>A	c.(2377-2379)GGC>GAC	p.G793D	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G707D|COL11A2_uc003ocz.1_Missense_Mutation_p.G686D	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	793	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						ACCCAGCTTGCCCTGTGGAGG	0.617		NaN											0	0	0	0.009096	0	3	37				
DNAH8	1769	broad.mit.edu	37	6	38854693	38854693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:38854693C>T	uc003ooe.1	+	55	8335	c.7735C>T	c.(7735-7737)CGA>TGA	p.R2579*		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGGAGGTGGTCGAAATGATAT	0.378		NaN											0	0	0	0.007413	0	20	72				
PKHD1	5314	broad.mit.edu	37	6	51524597	51524597	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:51524597T>C	uc003pah.1	-	61	10603	c.10327A>G	c.(10327-10329)AGT>GGT	p.S3443G		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3443	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCATTTACACTGCTAAAGACA	0.413		NaN											0	0	0	0.021523	0	27	101				
MANEA	79694	broad.mit.edu	37	6	96053848	96053848	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:96053848G>A	uc003poo.1	+	5	1096	c.956G>A	c.(955-957)GGA>GAA	p.G319E		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	319	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GGTTTTGATGGAATTTACACA	0.338		NaN											0	0	0	0.008291	0	10	40				
NCOA7	135112	broad.mit.edu	37	6	126210736	126210736	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:126210736C>T	uc010kes.2	+	11	1985	c.1536C>T	c.(1534-1536)AAC>AAT	p.N512N	NCOA7_uc003qae.3_Silent_p.N512N|NCOA7_uc003qah.2_Silent_p.N501N|NCOA7_uc003qai.2_Silent_p.N512N|NCOA7_uc010ket.2_Silent_p.N397N	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	512				LNIHEDL->ANAHEDA: No action on the E2- induced ESR1 binding.	cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACACACTGAACATACATGAAG	0.388		NaN											0	0	0	0.020292	0	14	63				
CNKSR3	154043	broad.mit.edu	37	6	154732170	154732170	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:154732170G>C	uc003qpy.2	-	11	1682	c.1177C>G	c.(1177-1179)CGG>GGG	p.R393G		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	393	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTCGTCTCCGGCTTTCCTGG	0.483		NaN											0	0	0	0.016723	0	14	150				
SEMA3D	223117	broad.mit.edu	37	7	84651768	84651768	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:84651768C>T	uc003uic.2	-	11	1393	c.1353G>A	c.(1351-1353)CAG>CAA	p.Q451Q	SEMA3D_uc010led.2_Silent_p.Q451Q|SEMA3D_uc003uib.2_Silent_p.Q90Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	451	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CCACCACTATCTGTGTCAGTC	0.403		NaN											0	0	0	0.019004	0	34	160				
MEPCE	56257	broad.mit.edu	37	7	100028509	100028509	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:100028509C>A	uc003uuw.2	+	1	981	c.868C>A	c.(868-870)CTC>ATC	p.L290I	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	290							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGCCCCTCTCACCCCCTT	0.667		NaN											1	0	4.34311e-12	0.015359	4.60369e-12	36	102				
DOCK4	9732	broad.mit.edu	37	7	111580178	111580178	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:111580178G>A	uc003vfx.2	-	11	1233	c.964C>T	c.(964-966)CTG>TTG	p.L322L	DOCK4_uc003vfy.2_Silent_p.L322L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L322L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TATACTTTCAGAATGAGGTCA	0.493		NaN											0	0	0	0.013537	0	12	67				
CREB3L2	64764	broad.mit.edu	37	7	137590506	137590506	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:137590506G>A	uc003vtw.2	-	6	1252	c.857C>T	c.(856-858)CCC>CTC	p.P286L	CREB3L2_uc003vtx.1_Missense_Mutation_p.P286L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P223L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	286	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						TTTTGACAGGGGCAATTTGGT	0.522		NaN	T	FUS	fibromyxoid sarcoma								0	0	0	0.015359	0	34	161				
VIPR2	7434	broad.mit.edu	37	7	158935195	158935195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:158935195G>A	uc003woh.2	-	2	280	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	32	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCCTCCTGTATTTCCAGA	0.398		NaN											0	0	0	0.021523	0	23	99				
MTUS1	57509	broad.mit.edu	37	8	17611479	17611479	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:17611479T>G	uc003wxv.2	-	2	2312	c.1838A>C	c.(1837-1839)GAA>GCA	p.E613A	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E613A|MTUS1_uc010lsz.2_Missense_Mutation_p.E613A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	613						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GTCAACATCTTCCTGATTCGA	0.428		NaN											0	0	0	0.015359	0	33	125				
PREX2	80243	broad.mit.edu	37	8	68956794	68956794	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:68956794G>C	uc003xxv.1	+	8	939	c.912G>C	c.(910-912)GTG>GTC	p.V304V	PREX2_uc003xxu.1_Silent_p.V304V|PREX2_uc011lez.1_Silent_p.V239V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	304	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACACGGAGGTGATGGAAGTGG	0.413		NaN											0	0	0	0.024245	0	13	120				
FAM164A	51101	broad.mit.edu	37	8	79609675	79609675	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:79609675C>G	uc003ybd.2	+	6	640	c.538C>G	c.(538-540)CCT>GCT	p.P180A		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	180										ovary(1)	1						GTCAAATTCTCCTGGAACTGC	0.368		NaN											0	0	0	0.006214	0	9	55				
CNBD1	168975	broad.mit.edu	37	8	88218312	88218312	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:88218312C>T	uc003ydy.2	+	5	571	c.523C>T	c.(523-525)CTG>TTG	p.L175L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	175										ovary(3)	3						TGATAAGCATCTGAAAACACT	0.398		NaN											0	0	0	0.014758	0	5	30				
ATAD2	29028	broad.mit.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:124383508C>G	uc003yqh.3	-	5	715	c.607G>C	c.(607-609)GAA>CAA	p.E203Q	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E203Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308		NaN											0	0	0	0.004482	0	8	28				
SCRIB	23513	broad.mit.edu	37	8	144886946	144886946	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:144886946A>T	uc003yzp.1	-	21	2808	c.2801T>A	c.(2800-2802)CTG>CAG	p.L934Q	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.L934Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	934	PDZ 2.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCGGTCAGCAGGGAGACGGC	0.602		NaN											0	0	0	0.014758	0	4	22				
DOCK8	81704	broad.mit.edu	37	9	336580	336580	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:336580A>T	uc003zgf.2	+	12	1398	c.1286_splice	c.e12-2	p.G429_splice	DOCK8_uc011lls.1_Splice_Site_p.G429_splice|DOCK8_uc010mgu.2_Splice_Site|DOCK8_uc010mgv.2_Splice_Site_p.G361_splice|DOCK8_uc003zgg.2_Splice_Site_p.G361_splice|DOCK8_uc003zgh.2_Splice_Site	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTTCTTAAAGGGAGAAGCT	0.423		NaN											0	0	0	0.013537	0	13	51				
RFX3	5991	broad.mit.edu	37	9	3330299	3330299	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:3330299C>T	uc003zhr.2	-	5	746	c.434G>A	c.(433-435)GGT>GAT	p.G145D	RFX3_uc010mhd.2_Missense_Mutation_p.G145D|RFX3_uc003zhs.1_Missense_Mutation_p.G145D|RFX3_uc003zht.1_Missense_Mutation_p.G145D|RFX3_uc010mhe.1_Missense_Mutation_p.G145D	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	145					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGAGTGACCAGAATTCTC	0.458		NaN											0	0	0	0.00308	0	7	63				
TBC1D2	55357	broad.mit.edu	37	9	100991351	100991351	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:100991351C>G	uc011lvb.1	-	5	1041	c.861G>C	c.(859-861)CAG>CAC	p.Q287H	TBC1D2_uc004ayq.2_Missense_Mutation_p.Q287H|TBC1D2_uc004ayr.2_Missense_Mutation_p.Q69H|TBC1D2_uc004ayo.3_Missense_Mutation_p.Q287H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	287						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGTTGTTCTGGCGCTTGG	0.532		NaN											0	0	0	0.016723	0	14	89				
GOLGA1	2800	broad.mit.edu	37	9	127642825	127642825	+	Missense_Mutation	SNP	C	C	T	rs146171341	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:127642825C>T	uc004bpc.2	-	23	2630	c.2288G>A	c.(2287-2289)CGG>CAG	p.R763Q	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	763						Golgi cisterna membrane				ovary(1)	1						CCATGGTATCCGAGGGTTTGA	0.502		NaN											0	0	0	0.01892	0	23	169				
NUP188	23511	broad.mit.edu	37	9	131760889	131760889	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:131760889C>T	uc004bws.1	+	32	3524	c.3502C>T	c.(3502-3504)CGG>TGG	p.R1168W	NUP188_uc004bwu.2_Missense_Mutation_p.R511W	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1168					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TATCCTCCTCCGGCAGTGGAA	0.567		NaN											0	0	0	0.028581	0	14	90				
MAMDC4	158056	broad.mit.edu	37	9	139754396	139754396	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:139754396C>G	uc004cjs.2	+	26	3302	c.3252C>G	c.(3250-3252)CTC>CTG	p.L1084L	MAMDC4_uc011mej.1_Silent_p.L421L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1163	Helical; (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTATTGCTCATGCTCCTGG	0.647		NaN											0	0	0	0.006122	0	16	32				
TLR7	51284	broad.mit.edu	37	X	12906301	12906301	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:12906301G>C	uc004cvc.2	+	3	2813	c.2674G>C	c.(2674-2676)GAT>CAT	p.D892H		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	892	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CTGTTGCTATGATGCTTTTAT	0.433		NaN											0	0	0	0.00632	0	29	187				
GLRA2	2742	broad.mit.edu	37	X	14550396	14550396	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:14550396G>C	uc010nep.2	+	3	436	c.104G>C	c.(103-105)GGA>GCA	p.G35A	GLRA2_uc010neq.2_Missense_Mutation_p.G35A|GLRA2_uc004cwe.3_Missense_Mutation_p.G35A|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.G13A	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	35	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCAGGTCTGGAAAACAACCT	0.413		NaN											0	0	0	0.010504	0	21	78				
PHEX	5251	broad.mit.edu	37	X	22094533	22094533	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:22094533G>C	uc004dah.2	+	4	580	c.377G>C	c.(376-378)AGG>ACG	p.R126T	PHEX_uc011mjr.1_Missense_Mutation_p.R126T|PHEX_uc011mjs.1_Missense_Mutation_p.R29T	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	126	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ATCAGTAGAAGGCGGGACACC	0.383		NaN											0	0	0	0.021553	0	5	35				
DGKK	139189	broad.mit.edu	37	X	50117981	50117981	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:50117981C>T	uc010njr.1	-	26	3550	c.3490G>A	c.(3490-3492)GAT>AAT	p.D1164N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1164					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					AGCTTTTCATCCAGGAAAGCT	0.473		NaN											0	0	0	0.014758	0	5	26				
FGD1	2245	broad.mit.edu	37	X	54496484	54496484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:54496484G>A	uc004dtg.2	-	4	1800	c.1066C>T	c.(1066-1068)CCA>TCA	p.P356S	FGD1_uc011moi.1_Missense_Mutation_p.P114S	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	356					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGGGGCACTGGGATTTCTCTG	0.478		NaN											0	0	0	0.004482	0	9	33				
TRPC5	7224	broad.mit.edu	37	X	111019559	111019559	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:111019559T>C	uc004epl.1	-	11	3823	c.2904A>G	c.(2902-2904)CAA>CAG	p.Q968Q		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	968	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GAGTTGTAACTTGTTCTTCCT	0.423		NaN											0	0	0	0.014758	0	5	62				
DOCK11	139818	broad.mit.edu	37	X	117814457	117814457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:117814457G>A	uc004eqp.2	+	49	5536	c.5473G>A	c.(5473-5475)GAG>AAG	p.E1825K	DOCK11_uc004eqq.2_Missense_Mutation_p.E1604K	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1825	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						AAATGCCAAAGAGCTTGATCC	0.289		NaN											0	0	0	0.016723	0	13	66				
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:139866027G>C	uc004fbg.1	-	1	697	c.505C>G	c.(505-507)CGT>GGT	p.R169G	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	169	5.|6 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423		NaN											0	0	0	0.01441	0	63	266				
MAGEA8	4107	broad.mit.edu	37	X	149013352	149013352	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:149013352T>C	uc004fdw.1	+	3	521	c.306T>C	c.(304-306)GCT>GCC	p.A102A		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	102											0	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACCCAGCTCACCTGGAGT	0.557		NaN											0	0	0	0.007291	0	30	145				
PIK3CD	5293	broad.mit.edu	37	1	9775949	9775949	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:9775949A>G	uc001aqb.3	+	5	621	c.413A>G	c.(412-414)GAC>GGC	p.D138G	PIK3CD_uc010oaf.1_Missense_Mutation_p.D138G|PIK3CD_uc001aqe.3_Missense_Mutation_p.D138G	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	138					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGTGAACGACTTTCGCGCC	0.687		NaN											0	0	0	0.047766	0	9	38				
FBXO42	54455	broad.mit.edu	37	1	16579618	16579618	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:16579618G>A	uc001ayg.2	-	8	1110	c.894C>T	c.(892-894)ATC>ATT	p.I298I	FBXO42_uc001aye.3_Silent_p.I16I|FBXO42_uc001ayf.2_Silent_p.I205I	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	298	Kelch 4.									upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACCCTCCGAGGATTAAGATAG	0.438		NaN											0	0	0	0.124865	0	41	16				
HSPG2	3339	broad.mit.edu	37	1	22202880	22202880	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:22202880C>T	uc001bfj.2	-	23	2885	c.2845G>A	c.(2845-2847)GAG>AAG	p.E949K	HSPG2_uc009vqd.2_Missense_Mutation_p.E950K	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	949	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGACCAGGCTCCTCAGAGGCC	0.667		NaN											0	0	0	0.009096	0	4	16				
MACF1	23499	broad.mit.edu	37	1	39799983	39799983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:39799983C>T	uc010oiu.1	+	1	3174	c.3043C>T	c.(3043-3045)CAG>TAG	p.Q1015*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2580					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAATCCAGGAGGTTCA	0.378		NaN											0	0	0	0.139131	0	92	39				
MACF1	23499	broad.mit.edu	37	1	39838193	39838193	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:39838193G>A	uc010oiu.1	+	16	8589	c.8458G>A	c.(8458-8460)GAA>AAA	p.E2820K	MACF1_uc010ois.1_Missense_Mutation_p.E2318K|MACF1_uc001cda.1_Missense_Mutation_p.E2226K|MACF1_uc001cdc.1_Missense_Mutation_p.E1405K|MACF1_uc001cdb.1_Missense_Mutation_p.E1405K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4385					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGGTGGAAGAAATCAATTG	0.403		NaN											0	0	0	0.055883	0	22	59				
STIL	6491	broad.mit.edu	37	1	47767248	47767248	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:47767248G>A	uc001crc.1	-	5	593	c.438C>T	c.(436-438)TTC>TTT	p.F146F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.F146F|STIL_uc010omo.1_Silent_p.F146F|STIL_uc001crd.1_Silent_p.F146F|STIL_uc001cre.1_Silent_p.F146F|STIL_uc001crg.1_Silent_p.F146F	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	146					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAGCTGAACTGAAGTCATCTA	0.348		NaN											0	0	0	0.139131	0	46	29				
FOXE3	2301	broad.mit.edu	37	1	47882467	47882467	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:47882467C>T	uc001crk.2	+	1	724	c.480C>T	c.(478-480)TTC>TTT	p.F160F		NM_012186	NP_036318	Q13461	FOXE3_HUMAN	forkhead box E3	160	Fork-head.				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		ACGGCAGCTTCCTGCGGCGCC	0.542		NaN											0	0	0	0.064281	0	35	21				
INADL	10207	broad.mit.edu	37	1	62263087	62263087	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:62263087A>G	uc001dab.2	+	11	1503	c.1389A>G	c.(1387-1389)CCA>CCG	p.P463P	INADL_uc009waf.1_Silent_p.P463P|INADL_uc001daa.2_Silent_p.P463P|INADL_uc001dad.3_Silent_p.P160P	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	463					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CACTTGAACCACCTTCAGACA	0.448		NaN											0	0	0	0.139131	0	122	58				
IL23R	149233	broad.mit.edu	37	1	67666436	67666436	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:67666436G>A	uc001ddo.2	+	5	593	c.508G>A	c.(508-510)GAG>AAG	p.E170K	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.E127K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.E15K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E29K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Missense_Mutation_p.E29K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Missense_Mutation_p.E29K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.E29K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	170	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						GACAGAAGAAGAGCAACAGTA	0.289		NaN											0	0	0	0.139131	0	54	29				
IL23R	149233	broad.mit.edu	37	1	67666498	67666498	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:67666498G>A	uc001ddo.2	+	5	655	c.570G>A	c.(568-570)AAG>AAA	p.K190K	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Silent_p.K147K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Silent_p.K35K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Silent_p.K49K|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_Silent_p.K49K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_Silent_p.K49K|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Silent_p.K49K|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	190	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						AAGGTGGCAAGAAGTACTTGG	0.373		NaN											0	0	0	0.139131	0	80	44				
FUBP1	8880	broad.mit.edu	37	1	78429366	78429366	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:78429366C>T	uc001dii.2	-	13	1165	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.R380Q	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	359	Gly-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						ACCTCTTCCTCGACCACCAGG	0.428		NaN											0	0	0	0.0918	0	26	41				
COL11A1	1301	broad.mit.edu	37	1	103461433	103461433	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:103461433G>C	uc001dul.2	-	28	2645	c.2327C>G	c.(2326-2328)TCT>TGT	p.S776C	COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.S788C|COL11A1_uc001dun.2_Missense_Mutation_p.S737C|COL11A1_uc009weh.2_Missense_Mutation_p.S660C	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	776	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCACCTTTAGATCCCTTGAG	0.269		NaN											0	0	0	0.055883	0	18	119				
COL11A1	1301	broad.mit.edu	37	1	103468019	103468019	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:103468019C>G	uc001dul.2	-	23	2380	c.2062G>C	c.(2062-2064)GGG>CGG	p.G688R	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G700R|COL11A1_uc001dun.2_Missense_Mutation_p.G649R|COL11A1_uc009weh.2_Missense_Mutation_p.G572R	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	688	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGGCCCAGGCTCCCCT	0.423		NaN											0	0	0	0.047766	0	7	7				
ATXN7L2	127002	broad.mit.edu	37	1	110031674	110031674	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:110031674C>T	uc001dxr.2	+	7	1004	c.989C>T	c.(988-990)ACC>ATC	p.T330I	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	330										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCAGCAGCACCTTCTCTGTT	0.617		NaN											0	0	0	0.139131	0	87	26				
KCNC4	3749	broad.mit.edu	37	1	110766110	110766110	+	Silent	SNP	C	C	T	rs139324520		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:110766110C>T	uc001dzh.2	+	2	1260	c.1203C>T	c.(1201-1203)TAC>TAT	p.Y401Y	KCNC4_uc001dzf.2_Silent_p.Y401Y|KCNC4_uc009wfr.2_Silent_p.Y401Y|KCNC4_uc001dzg.2_Silent_p.Y401Y|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	401	Helical; Name=Segment S5; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGATCTACTACGCTGAGCGCA	0.592		NaN											0	0	0	0.064281	0	35	120				
PDZK1	5174	broad.mit.edu	37	1	145747150	145747150	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:145747150G>T	uc001eon.1	+	3	204	c.107G>T	c.(106-108)CGG>CTG	p.R36L	NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Missense_Mutation_p.R36L|PDZK1_uc010oza.1_Missense_Mutation_p.R36L	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	36	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CACCTGGTCCGGGTGGTTGAG	0.502		NaN											1	0	1.10923e-09	0.076483	1.16626e-09	22	491				
BCL9	607	broad.mit.edu	37	1	147095710	147095710	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:147095710C>T	uc001epq.2	+	10	3971	c.3231C>T	c.(3229-3231)CTC>CTT	p.L1077L	BCL9_uc010ozr.1_Silent_p.L991L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1077	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TGCCAACCCTCAGCCCAATGG	0.493		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.139131	0	104	219				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:155887393T>G	uc001fmi.1	-	11	1361	c.1337A>C	c.(1336-1338)CAG>CCG	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	446	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.448		NaN											0	0	0	0.105934	0	7	39				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:156777073T>G	uc001fqd.2	-	8	1207	c.1067A>C	c.(1066-1068)CAC>CCC	p.H356P	SH2D2A_uc001fqc.1_Missense_Mutation_p.H328P|SH2D2A_uc009wsh.2_Missense_Mutation_p.H366P|SH2D2A_uc001fqe.2_Missense_Mutation_p.H338P|SH2D2A_uc010phs.1_Missense_Mutation_p.H356P	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	356	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597		NaN											0	0	0	0.080935	0	5	22				
SERPINC1	462	broad.mit.edu	37	1	173881128	173881128	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:173881128C>G	uc001gjt.2	-	3	552	c.433G>C	c.(433-435)GAG>CAG	p.E145Q		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GATGTTTTCTCAGATATGGTG	0.433		NaN											0	0	0	0.09836	0	43	115				
PPP1R12B	4660	broad.mit.edu	37	1	202549682	202549682	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:202549682C>G	uc001gya.1	+	24	3087	c.2943C>G	c.(2941-2943)TCC>TCG	p.S981S	PPP1R12B_uc001gxz.1_3'UTR|PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Silent_p.S207S	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	981					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAAACTGTCCAAGTAGGCTA	0.478		NaN											0	0	0	0.104719	0	44	28				
ZC3H11A	9877	broad.mit.edu	37	1	203798669	203798669	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:203798669A>G	uc001hac.2	+	8	1005	c.389A>G	c.(388-390)AAT>AGT	p.N130S	ZC3H11A_uc001had.2_Missense_Mutation_p.N130S|ZC3H11A_uc001hae.2_Missense_Mutation_p.N130S|ZC3H11A_uc001haf.2_Missense_Mutation_p.N130S|ZC3H11A_uc010pqm.1_Missense_Mutation_p.N76S|ZC3H11A_uc001hag.1_Missense_Mutation_p.N130S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	130							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCAGTCCAATCCTTCCCCT	0.483		NaN											0	0	0	0.139131	0	121	55				
CENPF	1063	broad.mit.edu	37	1	214825065	214825065	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:214825065G>C	uc001hkm.2	+	15	8170	c.7996G>C	c.(7996-7998)GAG>CAG	p.E2666Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2762	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAATTGAAGGAGCTCACACT	0.348		NaN											0	0	0	0.117977	0	46	20				
TMEM63A	9725	broad.mit.edu	37	1	226055673	226055673	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:226055673C>T	uc001hpm.1	-	7	679	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	TMEM63A_uc010pvi.1_Silent_p.Q143Q	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	143						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TGATGTGCCTCTGGAAGGACA	0.542		NaN											0	0	0	0.139131	0	52	46				
ZNF678	339500	broad.mit.edu	37	1	227842637	227842637	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:227842637G>C	uc001hqw.1	+	4	1031	c.686G>C	c.(685-687)AGA>ACA	p.R229T	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	284					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				CAACATAAGAGAATTCATACT	0.378		NaN											0	0	0	0.086207	0	41	221				
OBSCN	84033	broad.mit.edu	37	1	228399583	228399583	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:228399583C>T	uc009xez.1	+	2	143	c.99C>T	c.(97-99)ATC>ATT	p.I33I	OBSCN_uc001hsn.2_Silent_p.I33I|uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	33	Ig-like 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGCCAGATCGTGGGTAATC	0.692		NaN											0	0	0	0.02938	0	7	18				
SIPA1L2	57568	broad.mit.edu	37	1	232574863	232574863	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:232574863G>C	uc001hvg.2	-	13	4180	c.4022C>G	c.(4021-4023)TCT>TGT	p.S1341C	SIPA1L2_uc001hvf.2_Missense_Mutation_p.S415C	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1341	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTGGAATGAGAGGATATCTC	0.582		NaN											0	0	0	0.043863	0	19	76				
LYST	1130	broad.mit.edu	37	1	235969730	235969730	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:235969730G>C	uc001hxj.2	-	6	2881	c.2706C>G	c.(2704-2706)CTC>CTG	p.L902L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L902L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	902					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGCCACACAGAGGAATAGGT	0.438		NaN							Chediak-Higashi_syndrome				0	0	0	0.139131	0	68	187				
RYR2	6262	broad.mit.edu	37	1	237794757	237794757	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:237794757G>A	uc001hyl.1	+	42	6591	c.6471G>A	c.(6469-6471)CAG>CAA	p.Q2157Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2157	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTACCAGCACCCTAATC	0.448		NaN											0	0	0	0.069456	0	33	28				
ZNF672	79894	broad.mit.edu	37	1	249142042	249142042	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:249142042C>G	uc001iex.2	+	4	1264	c.569C>G	c.(568-570)CCC>CGC	p.P190R		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCCGGAGCCCCACGCGACCC	0.716		NaN											0	0	0	0.02938	0	6	17				
ST8SIA6	338596	broad.mit.edu	37	10	17373460	17373460	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:17373460C>T	uc001ipd.2	-	5	469	c.469G>A	c.(469-471)GAA>AAA	p.E157K	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	157	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						TTTTTGCTTTCCACCTCGTAA	0.393		NaN											0	0	0	0.062417	0	22	63				
MLLT10	8028	broad.mit.edu	37	10	21962602	21962602	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:21962602G>A	uc001iqs.2	+	11	1723	c.1375G>A	c.(1375-1377)GAA>AAA	p.E459K	MLLT10_uc001iqt.2_Missense_Mutation_p.E459K|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.E459K|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001irb.2_RNA|MLLT10_uc001iqz.2_Missense_Mutation_p.E214K	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	459	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2						TTCTGGCATAGAAGAAGAAAC	0.398		NaN	T	MLL|PICALM|CDK6	AL								0	0	0	0.139131	0	86	200				
C10orf68	79741	broad.mit.edu	37	10	33000562	33000562	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:33000562T>A	uc001iwn.3	+	7	867	c.394T>A	c.(394-396)TCA>ACA	p.S132T	C10orf68_uc001iwl.1_Missense_Mutation_p.S140T|C10orf68_uc001iwm.1_Missense_Mutation_p.S108T|C10orf68_uc010qei.1_Missense_Mutation_p.S59T	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	132										skin(2)|ovary(1)	3						TGATGAAGAATCAGGTGAAAA	0.338		NaN											0	0	0	0.09319	0	11	57				
ANKRD30A	91074	broad.mit.edu	37	10	37508817	37508817	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:37508817G>A	uc001iza.1	+	34	4108	c.4009G>A	c.(4009-4011)GAA>AAA	p.E1337K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAGAAAGCAGAAACAGAAGT	0.279		NaN											0	0	0	0.115264	0	2	12				
RET	5979	broad.mit.edu	37	10	43620387	43620387	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:43620387C>A	uc001jal.2	+	18	3186	c.2996C>A	c.(2995-2997)GCG>GAG	p.A999E	RET_uc001jak.1_Missense_Mutation_p.A999E|RET_uc010qez.1_Missense_Mutation_p.A745E	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	999	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCGGTGTTTGCGGACATCAGC	0.557		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				1	0	4.4004e-07	0.083992	4.57955e-07	21	69				
SYT15	83849	broad.mit.edu	37	10	46967428	46967428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:46967428G>A	uc001jea.2	-	4	802	c.649C>T	c.(649-651)CAG>TAG	p.Q217*	SYT15_uc001jdz.2_Nonsense_Mutation_p.Q217*|SYT15_uc001jeb.2_Nonsense_Mutation_p.Q95*|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	217	Cytoplasmic (Potential).|C2 1.					integral to membrane|plasma membrane					0						GGCTGTACCTGAAAGATGAAG	0.602		NaN											0	0	0	0.02938	0	7	67				
MYOZ1	58529	broad.mit.edu	37	10	75391879	75391879	+	Missense_Mutation	SNP	G	G	T	rs149293567		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:75391879G>T	uc001jur.2	-	6	1074	c.709C>A	c.(709-711)CGC>AGC	p.R237S		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	237					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					AAGGTCATGCGTTTGGAGGCC	0.473		NaN											1	0	0.000673444	0.069234	0.000680095	11	60				
TRIM8	81603	broad.mit.edu	37	10	104404923	104404923	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:104404923G>T	uc001kvz.2	+	1	672	c.549G>T	c.(547-549)GAG>GAT	p.E183D		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	183	Potential.					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGACGTGGAGATCCGAAGGA	0.587		NaN											1	0	1.33987e-11	0.069234	1.42339e-11	10	11				
C10orf79	80217	broad.mit.edu	37	10	105927390	105927390	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:105927390C>T	uc001kxw.2	-	22	2913	c.2797G>A	c.(2797-2799)GAG>AAG	p.E933K	C10orf79_uc009xxq.2_Missense_Mutation_p.E241K|C10orf79_uc001kxx.3_Missense_Mutation_p.E934K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	933	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTAAGACACTCTGCTTCAATC	0.358		NaN											0	0	0	0.0333	0	17	40				
DMBT1	1755	broad.mit.edu	37	10	124348677	124348677	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:124348677T>A	uc001lgk.1	+	17	2107	c.2001T>A	c.(1999-2001)GAT>GAA	p.D667E	DMBT1_uc001lgl.1_Missense_Mutation_p.D657E|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D667E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	667	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGTCCTGGATGATGTGCGCT	0.587		NaN											0	0	0	0.139131	0	110	94				
DMBT1	1755	broad.mit.edu	37	10	124402857	124402857	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:124402857C>T	uc001lgk.1	+	53	7291	c.7185C>T	c.(7183-7185)GTC>GTT	p.V2395V	DMBT1_uc001lgl.1_Silent_p.V2385V|DMBT1_uc001lgm.1_Silent_p.V1767V|DMBT1_uc009xzz.1_Silent_p.V2394V|DMBT1_uc010qtx.1_Silent_p.V1115V|DMBT1_uc009yab.1_Silent_p.V1098V|DMBT1_uc009yac.1_Silent_p.V689V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2395					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGTGGACGTCGTCCTGGGTC	0.647		NaN											0	0	0	0.0333	0	17	41				
TCERG1L	256536	broad.mit.edu	37	10	132891546	132891546	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:132891546C>A	uc001lkp.2	-	12	1726	c.1640G>T	c.(1639-1641)CGG>CTG	p.R547L		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	547	FF 2.									large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCTCTGATCCCGGCCGTATTT	0.443		NaN											1	0	0.000157383	0.038147	0.000160124	8	96				
LSP1	4046	broad.mit.edu	37	11	1905742	1905742	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:1905742G>C	uc001lui.2	+	7	823	c.648G>C	c.(646-648)AAG>AAC	p.K216N	LSP1_uc001luj.2_Missense_Mutation_p.K344N|LSP1_uc001luk.2_Missense_Mutation_p.K154N|LSP1_uc001lul.2_Missense_Mutation_p.K154N|LSP1_uc001lum.2_Missense_Mutation_p.K154N	NM_002339	NP_002330	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 1	216					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACAGTGTGAAGAAATCCCAGC	0.572		NaN											0	0	0	0.105934	0	14	43				
SPON1	10418	broad.mit.edu	37	11	14276159	14276159	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:14276159T>A	uc001mle.2	+	9	1514	c.976T>A	c.(976-978)TGG>AGG	p.W326R		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	326	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		TAGTCCCGACTGGAACGTAGG	0.542		NaN											0	0	0	0.132662	0	14	42				
LDLRAD3	143458	broad.mit.edu	37	11	36248840	36248840	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:36248840G>A	uc001mwk.1	+	5	697	c.660G>A	c.(658-660)CTG>CTA	p.L220L	LDLRAD3_uc010rey.1_Silent_p.L171L|LDLRAD3_uc010rez.1_Silent_p.L99L|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	220	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGTCCCGCCTGGTGGTCCTGG	0.627		NaN											0	0	0	0.045705	0	34	41				
OR5D13	390142	broad.mit.edu	37	11	55541543	55541543	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:55541543G>A	uc010ril.1	+	1	630	c.630G>A	c.(628-630)GTG>GTA	p.V210V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TCAATGAGGTGAGCAGCCTAA	0.403		NaN											0	0	0	0.069288	0	24	124				
GIF	2694	broad.mit.edu	37	11	59609985	59609985	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:59609985C>G	uc001noi.2	-	4	490	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	148					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						AAGGTCGCCTCAGAGTTCTTC	0.577		NaN											0	0	0	0.055883	0	22	61				
SLC22A25	387601	broad.mit.edu	37	11	62951183	62951183	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:62951183C>G	uc001nwr.1	-	5	937	c.937G>C	c.(937-939)GAC>CAC	p.D313H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.D313H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	313	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						GTTAGGATGTCTTCAGCATTC	0.438		NaN											0	0	0	0.139131	0	94	173				
SF1	7536	broad.mit.edu	37	11	64544068	64544068	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:64544068C>T	uc001obb.1	-	2	439	c.62G>A	c.(61-63)CGC>CAC	p.R21H	SF1_uc010rnn.1_5'UTR|SF1_uc001oaz.1_Missense_Mutation_p.R146H|SF1_uc001oba.1_Missense_Mutation_p.R21H|SF1_uc001obc.1_Missense_Mutation_p.R21H|SF1_uc001obd.1_Missense_Mutation_p.R21H|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Missense_Mutation_p.R21H	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	21				R->K: No effect.|R->A: Decreases interaction with U2AF2 and spliceosome assembly.	nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TTGGTTCCAGCGGCTCCTCTT	0.428		NaN											0	0	0	0.09836	0	41	71				
ADRBK1	156	broad.mit.edu	37	11	67051208	67051208	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:67051208C>T	uc009yrn.1	+	16	1625	c.1359C>T	c.(1357-1359)TTC>TTT	p.F453F	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	453	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCCCCTTTTTCCGCTCCCTGG	0.542		NaN											0	0	0	0.049695	0	20	80				
ANKRD13D	338692	broad.mit.edu	37	11	67068616	67068616	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:67068616T>C	uc001okc.1	+	12	1479	c.968T>C	c.(967-969)ATT>ACT	p.I323T	ANKRD13D_uc001okd.1_Missense_Mutation_p.I410T|ANKRD13D_uc001oke.1_Missense_Mutation_p.I323T|ANKRD13D_uc001okg.1_Missense_Mutation_p.I106T|ANKRD13D_uc001okh.1_Missense_Mutation_p.I106T|ANKRD13D_uc001oki.1_Missense_Mutation_p.I60T|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	323										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCGTCAAAATTGGTGAGAGG	0.632		NaN											0	0	0	0.058154	0	10	35				
AQP11	282679	broad.mit.edu	37	11	77301521	77301521	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:77301521G>A	uc001oyj.2	+	1	842	c.484G>A	c.(484-486)GAC>AAC	p.D162N	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	162						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CATCCGAGTCGACTTGCTCAA	0.567		NaN											0	0	0	0.050027	0	35	76				
DYNC2H1	79659	broad.mit.edu	37	11	103049829	103049829	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:103049829G>T	uc001pho.2	+	39	6358	c.6214G>T	c.(6214-6216)GAT>TAT	p.D2072Y	DYNC2H1_uc001phn.1_Missense_Mutation_p.D2072Y|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2072	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTCTGGATGATAATCGACT	0.388		NaN											1	0	5.50884e-06	0.09319	5.66109e-06	12	44				
HTR3A	3359	broad.mit.edu	37	11	113856847	113856847	+	Missense_Mutation	SNP	C	C	T	rs139246177		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:113856847C>T	uc010rxb.1	+	6	906	c.673C>T	c.(673-675)CGG>TGG	p.R225W	HTR3A_uc010rxa.1_Missense_Mutation_p.R225W|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Missense_Mutation_p.R204W	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	219	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCTACTTTCGGGAGTTCAG	0.478		NaN											0	0	0	0.139131	0	53	131				
DDX6	1656	broad.mit.edu	37	11	118625512	118625512	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:118625512C>T	uc001pub.2	-	13	1722	c.1361G>A	c.(1360-1362)GGA>GAA	p.G454E	DDX6_uc001pua.2_Missense_Mutation_p.G154E|DDX6_uc001puc.2_Missense_Mutation_p.G454E	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	454	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		AATTTCTGTTCCCAGCTGCTC	0.423		NaN	T	IGH@	B-NHL								0	0	0	0.134883	0	31	55				
BCL9L	283149	broad.mit.edu	37	11	118779098	118779098	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:118779098T>C	uc001pug.2	-	2	1258	c.293A>G	c.(292-294)CAG>CGG	p.Q98R	BCL9L_uc009zal.2_Missense_Mutation_p.Q93R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	98					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACCCCTGCCTGGGGGTTCTT	0.647		NaN											0	0	0	0.116897	0	28	42				
ETS1	2113	broad.mit.edu	37	11	128354726	128354726	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:128354726G>A	uc010sbs.1	-	5	1038	c.722C>T	c.(721-723)ACC>ATC	p.T241I	ETS1_uc001qej.2_Missense_Mutation_p.T285I|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T241I	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	241				MCMGRTSR -> FLPPPLPP (in Ref. 6; AAA52409).	cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ACCACGACTGGTCCTCCCCAT	0.418		NaN											0	0	0	0.076483	0	21	63				
LEPREL2	10536	broad.mit.edu	37	12	6948245	6948245	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:6948245C>T	uc001qra.1	+	16	2021	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	LEPREL2_uc001qqz.1_Missense_Mutation_p.R470W|LEPREL2_uc001qrb.1_Missense_Mutation_p.R470W|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	663	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCGTGACTCGGGGACGGCG	0.677		NaN											0	0	0	0.021553	0	6	25				
TAS2R20	259295	broad.mit.edu	37	12	11150218	11150218	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:11150218T>A	uc001qzm.2	-	1	257	c.257A>T	c.(256-258)AAT>ATT	p.N86I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	86	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						TGCCCAGGCATTAGAAATAAA	0.343		NaN											0	0	0	0.139131	0	62	56				
PLEKHA5	54477	broad.mit.edu	37	12	19406895	19406895	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:19406895C>T	uc001reb.2	+	4	335	c.249C>T	c.(247-249)ACC>ACT	p.T83T	PLEKHA5_uc010sie.1_Silent_p.T83T|PLEKHA5_uc001rea.2_Silent_p.T83T|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc010sif.1_5'UTR|PLEKHA5_uc010sig.1_5'UTR|PLEKHA5_uc010sih.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	83	WW 2.						1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAAAGTGACCTGCAAACATC	0.323		NaN											0	0	0	0.139131	0	109	79				
C12orf71	728858	broad.mit.edu	37	12	27235288	27235288	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:27235288A>G	uc001rhq.2	-	1	168	c.129T>C	c.(127-129)GAT>GAC	p.D43D		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	43											0						TGGAAGGTGCATCTTCCCAGG	0.547		NaN											0	0	0	0.058154	0	9	43				
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:31237922G>C	uc001rjt.1	+	5	751	c.500G>C	c.(499-501)AGA>ACA	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.009096	0	3	14				
NELL2	4753	broad.mit.edu	37	12	45173749	45173749	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:45173749G>C	uc001rog.2	-	4	987	c.392C>G	c.(391-393)TCA>TGA	p.S131*	NELL2_uc001rof.3_Nonsense_Mutation_p.S130*|NELL2_uc001roh.2_Nonsense_Mutation_p.S131*|NELL2_uc009zkd.2_Nonsense_Mutation_p.S130*|NELL2_uc010skz.1_Nonsense_Mutation_p.S181*|NELL2_uc010sla.1_Nonsense_Mutation_p.S154*|NELL2_uc001roi.1_Nonsense_Mutation_p.S131*|NELL2_uc010slb.1_Nonsense_Mutation_p.S130*|NELL2_uc001roj.2_Nonsense_Mutation_p.S131*	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	131	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTGACTGCCTGAGCGGTAATG	0.468		NaN											0	0	0	0.116897	0	28	132				
PLEKHA9	51054	broad.mit.edu	37	12	45567959	45567959	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:45567959C>G	uc001rom.1	-	3	727	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	PLEKHA9_uc009zke.2_Missense_Mutation_p.E64Q	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		TAGAGCAGCTCAGAGGTGAAG	0.443		NaN											0	0	0	0.139131	0	50	154				
AQP6	363	broad.mit.edu	37	12	50368531	50368531	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:50368531C>T	uc001rvr.1	+	3	901	c.564C>T	c.(562-564)ATC>ATT	p.I188I	AQP6_uc001rvp.1_Silent_p.I14I|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	188	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CTCCCCAGATCCACTTCACTG	0.607		NaN									OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.059317	0	33	21				
RACGAP1	29127	broad.mit.edu	37	12	50390835	50390835	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:50390835G>C	uc001rvt.2	-	12	1342	c.1032C>G	c.(1030-1032)GTC>GTG	p.V344V	RACGAP1_uc009zlm.1_Silent_p.V344V|RACGAP1_uc001rvs.2_Silent_p.V344V|RACGAP1_uc001rvu.2_Silent_p.V344V	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	344					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						CTCCAATCTTGACAGGTGTTC	0.443		NaN											0	0	0	0.069288	0	22	78				
DNAJC14	85406	broad.mit.edu	37	12	56216185	56216185	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:56216185G>A	uc001shx.1	-	6	2074	c.1870C>T	c.(1870-1872)CGG>TGG	p.R624W	DNAJC14_uc001shu.1_Missense_Mutation_p.R624W|DNAJC14_uc009zob.1_Missense_Mutation_p.R624W	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	624					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CCTGGAATCCGAGAACCAAAT	0.453		NaN									OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.0918	0	23	87				
IKZF4	64375	broad.mit.edu	37	12	56427078	56427078	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:56427078A>T	uc001sjb.1	+	8	1129	c.970A>T	c.(970-972)AAG>TAG	p.K324*	IKZF4_uc010sqa.1_Nonsense_Mutation_p.K277*|IKZF4_uc001sjc.1_Nonsense_Mutation_p.K324*|IKZF4_uc001sjd.1_Nonsense_Mutation_p.K222*|IKZF4_uc009zoi.1_Nonsense_Mutation_p.K279*|IKZF4_uc001sje.1_Nonsense_Mutation_p.K283*	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	324					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACCAAACGCAAGCGTTCCAC	0.502		NaN											0	0	0	0.144211	0	26	247				
OS9	10956	broad.mit.edu	37	12	58110272	58110272	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:58110272G>C	uc001spj.2	+	8	1029	c.970G>C	c.(970-972)GGA>CGA	p.G324R	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.G324R|OS9_uc001spl.2_Missense_Mutation_p.G324R|OS9_uc001spm.2_Missense_Mutation_p.G324R|OS9_uc001spn.2_Missense_Mutation_p.G325R|OS9_uc010sry.1_Missense_Mutation_p.G292R|OS9_uc010srz.1_Missense_Mutation_p.G265R	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	324					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCAGGCCCCAGGAGGGGAGGA	0.597		NaN											0	0	0	0.115264	0	2	6				
APPL2	55198	broad.mit.edu	37	12	105593247	105593247	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:105593247G>A	uc001tlf.1	-	10	985	c.767C>T	c.(766-768)TCT>TTT	p.S256F	APPL2_uc010swt.1_Missense_Mutation_p.S213F|APPL2_uc001tlg.1_Missense_Mutation_p.S10F|APPL2_uc010swu.1_Missense_Mutation_p.S262F|APPL2_uc009zuq.2_Missense_Mutation_p.S213F	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	256	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTCATCAACAGAAAGTAATTC	0.473		NaN											0	0	0	0.092188	0	40	29				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:106820975C>T	uc001tlp.2	+	13	1324	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTTTTTTAGCTTTTATCTCT	0.274		NaN											0	0	0	0.021553	0	4	9				
ACACB	32	broad.mit.edu	37	12	109702055	109702055	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:109702055A>G	uc001tob.2	+	50	6925	c.6806A>G	c.(6805-6807)GAC>GGC	p.D2269G	ACACB_uc001toc.2_Missense_Mutation_p.D2269G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.D935G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2269	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GATCTCTCCGACAAGGACCGA	0.552		NaN									OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.059317	0	33	123				
UBE3B	89910	broad.mit.edu	37	12	109939197	109939197	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:109939197G>A	uc001top.2	+	13	1743	c.1140G>A	c.(1138-1140)TTG>TTA	p.L380L	UBE3B_uc001toq.2_Silent_p.L380L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L380L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	380					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CAATGCACTTGATCACCAAAC	0.557		NaN											0	0	0	0.139131	0	111	76				
KNTC1	9735	broad.mit.edu	37	12	123024233	123024233	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:123024233A>G	uc001ucv.2	+	5	540	c.377A>G	c.(376-378)CAG>CGG	p.Q126R	KNTC1_uc010taf.1_Missense_Mutation_p.Q126R	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	126					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCATTTGTTCAGAAAGCTAAC	0.264		NaN											0	0	0	0.115264	0	3	1				
EP400	57634	broad.mit.edu	37	12	132502842	132502842	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr12:132502842C>T	uc001ujn.2	+	20	4233	c.4198C>T	c.(4198-4200)CCG>TCG	p.P1400S	EP400_uc001ujl.2_Missense_Mutation_p.P1399S|EP400_uc001ujm.2_Missense_Mutation_p.P1400S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1436					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1400W(1)		central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAAAAGATACCGCGGAAACT	0.502		NaN											0	0	0	0.134883	0	31	47				
N6AMT2	221143	broad.mit.edu	37	13	21331724	21331724	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:21331724T>A	uc001uno.1	-	2	95	c.14A>T	c.(13-15)GAA>GTA	p.E5V	N6AMT2_uc009zzr.1_Missense_Mutation_p.E5V|N6AMT2_uc001unp.2_RNA	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2	5							methyltransferase activity|nucleic acid binding				0		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCATCATCTTCCAAATCACT	0.403		NaN											0	0	0	0.080935	0	11	79				
RNF17	56163	broad.mit.edu	37	13	25416223	25416223	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:25416223C>G	uc001upr.2	+	19	2568	c.2527C>G	c.(2527-2529)CTT>GTT	p.L843V	RNF17_uc010tdd.1_Missense_Mutation_p.L702V|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.L843V|RNF17_uc001ups.2_Missense_Mutation_p.L782V|RNF17_uc010aac.2_Missense_Mutation_p.L41V|RNF17_uc010aad.2_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	843					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGATTCTCTTGGTGCTCC	0.333		NaN											0	0	0	0.038147	0	7	70				
SMAD9	4093	broad.mit.edu	37	13	37439763	37439763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:37439763G>C	uc001uvw.2	-	5	1257	c.914C>G	c.(913-915)TCA>TGA	p.S305*	SMAD9_uc001uvx.2_Nonsense_Mutation_p.S268*|SMAD9_uc010tep.1_Nonsense_Mutation_p.S98*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	305	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCTGTTATTTGAAGGGTCGGT	0.453		NaN											0	0	0	0.076483	0	23	45				
LHFP	10186	broad.mit.edu	37	13	39918097	39918097	+	Missense_Mutation	SNP	C	C	G	rs142420975		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:39918097C>G	uc001uxf.2	-	4	1090	c.579G>C	c.(577-579)AAG>AAC	p.K193N		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	193						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GCTTCTGTTTCTTGCCCGAAA	0.557		NaN	T	HMGA2	lipoma								0	0	0	0.124865	0	45	43				
PCDH8	5100	broad.mit.edu	37	13	53420180	53420180	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:53420180C>T	uc001vhi.2	-	1	2595	c.2392G>A	c.(2392-2394)GGA>AGA	p.G798R	PCDH8_uc001vhj.2_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	798	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCGAGGCTccgccgcccgcc	0.637		NaN											0	0	0	0.009096	0	4	12				
DCT	1638	broad.mit.edu	37	13	95114445	95114445	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:95114445T>A	uc001vlv.3	-	5	1291	c.864_splice	c.e5-1	p.S288_splice	DCT_uc010afh.2_Splice_Site_p.S288_splice	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1						epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCATCCAAGCTAAGATTTGTA	0.239		NaN											0	0	0	0.047766	0	9	47				
NALCN	259232	broad.mit.edu	37	13	101944717	101944717	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:101944717C>G	uc001vox.1	-	8	989	c.800G>C	c.(799-801)GGA>GCA	p.G267A	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.G267A|NALCN_uc001vpa.2_Missense_Mutation_p.G267A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	267	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATACTAGTTCCTGTCATGAC	0.433		NaN											0	0	0	0.076483	0	23	28				
MCF2L	23263	broad.mit.edu	37	13	113729380	113729380	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:113729380G>A	uc001vsu.2	+	11	1378	c.1356G>A	c.(1354-1356)GCG>GCA	p.A452A	MCF2L_uc001vsq.2_Silent_p.A452A|MCF2L_uc010tjr.1_Silent_p.A395A|MCF2L_uc001vsr.2_Silent_p.A399A|MCF2L_uc001vss.3_Silent_p.A393A|MCF2L_uc010tjs.1_Silent_p.A393A|MCF2L_uc001vst.1_Silent_p.A357A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	425	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACTACGCGGTAGACTCCA	0.657		NaN											0	0	0	0.125774	0	28	62				
RNASE4	6038	broad.mit.edu	37	14	21167916	21167916	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:21167916G>C	uc001vxy.3	+	2	949	c.386G>C	c.(385-387)AGA>ACA	p.R129T	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R129T	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	129					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCGAGCACTAGACGTGTTGTC	0.527		NaN											0	0	0	0.139131	0	88	104				
BAZ1A	11177	broad.mit.edu	37	14	35227931	35227931	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:35227931C>G	uc001wsk.2	-	25	4933	c.4365G>C	c.(4363-4365)TTG>TTC	p.L1455F	BAZ1A_uc001wsl.2_Missense_Mutation_p.L1423F	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1455	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAACAAGTTTCAAAAAAGGCC	0.373		NaN											0	0	0	0.069288	0	24	62				
ZFYVE26	23503	broad.mit.edu	37	14	68264823	68264823	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:68264823C>T	uc001xka.2	-	11	2295	c.2156G>A	c.(2155-2157)AGA>AAA	p.R719K	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R719K|ZFYVE26_uc010tta.1_Missense_Mutation_p.R719K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	719					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGTCCATCTCTGCTTCCTGA	0.557		NaN											0	0	0	0.139131	0	62	71				
VASH1	22846	broad.mit.edu	37	14	77242405	77242405	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:77242405G>A	uc001xst.2	+	5	1631	c.701G>A	c.(700-702)CGC>CAC	p.R234H		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	234					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCCGCCTTCCGCACGCTCAGC	0.672		NaN											0	0	0	0.038147	0	7	19				
FLRT2	23768	broad.mit.edu	37	14	86089433	86089433	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:86089433A>G	uc001xvr.2	+	2	2342	c.1575A>G	c.(1573-1575)ACA>ACG	p.T525T	FLRT2_uc010atd.2_Silent_p.T525T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	525	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCAGCAACACAGCGTCCAGCC	0.577		NaN											0	0	0	0.055883	0	21	143				
MOAP1	64112	broad.mit.edu	37	14	93650482	93650482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:93650482C>A	uc001ybj.2	-	3	476	c.106G>T	c.(106-108)GAG>TAG	p.E36*	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	36					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agagcctcctcgatttctgcc	0		NaN											1	0	7.97055e-49	0.139131	8.90698e-49	122	147				
BCL11B	64919	broad.mit.edu	37	14	99641436	99641436	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:99641436C>T	uc001yga.2	-	4	2004	c.1737G>A	c.(1735-1737)GCG>GCA	p.A579A	BCL11B_uc001ygb.2_Silent_p.A508A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	579	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cgccgccccccgcgcccggga	0.557		NaN	T	TLX3	T-ALL								0	0	0	0.047766	0	8	19				
HSP90AA1	3320	broad.mit.edu	37	14	102549376	102549376	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr14:102549376C>T	uc001yku.3	-	9	1940	c.1750G>A	c.(1750-1752)GAA>AAA	p.E584K	HSP90AA1_uc001ykv.3_Missense_Mutation_p.E706K|HSP90AA1_uc001ykw.1_Missense_Mutation_p.E405K|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E573K	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	584					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	CATACCTTTTCAACTTTTTTC	0.194		NaN											0	0	0	0.050027	0	35	34				
HERC2	8924	broad.mit.edu	37	15	28456214	28456214	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:28456214G>T	uc001zbj.2	-	44	7109	c.7003C>A	c.(7003-7005)CAC>AAC	p.H2335N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2335					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTATCCTGGTGGGAGAGCAGC	0.502		NaN											1	0	1.56452e-12	0.043863	1.67073e-12	19	116				
SEMA6D	80031	broad.mit.edu	37	15	48057100	48057100	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:48057100C>T	uc010bek.2	+	13	1634	c.1274C>T	c.(1273-1275)TCA>TTA	p.S425L	SEMA6D_uc001zvw.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S425L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S425L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S425L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S425L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	425	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACGGCCATCTCAGTGGACCAT	0.512		NaN											0	0	0	0.055883	0	22	60				
MYO9A	4649	broad.mit.edu	37	15	72122642	72122642	+	Missense_Mutation	SNP	C	C	T	rs142345927	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:72122642C>T	uc002atl.3	-	40	7321	c.6848G>A	c.(6847-6849)CGT>CAT	p.R2283H	MYO9A_uc002atj.2_Missense_Mutation_p.R214H|MYO9A_uc002atk.2_Missense_Mutation_p.R1078H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2283	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R2283H(1)		ovary(1)|pancreas(1)|skin(1)	3						TCGACGAATACGCCCCTTTCC	0.443		NaN											0	0	0	0.009096	0	4	89				
ULK3	25989	broad.mit.edu	37	15	75134485	75134485	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:75134485G>A	uc010bkf.1	-	3	401	c.295C>T	c.(295-297)CTG>TTG	p.L99L	ULK3_uc010ulp.1_Silent_p.L9L|ULK3_uc010ulq.1_Silent_p.L110L|ULK3_uc010ulr.1_Intron|ULK3_uc002ayv.2_Silent_p.L99L|ULK3_uc010uls.1_Intron|ULK3_uc010ult.1_Silent_p.L9L|ULK3_uc010ulu.1_Silent_p.L9L	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51-like kinase 3	99	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						AAGCGAGACAGGTCGCCCCCT	0.547		NaN											0	0	0	0.014758	0	5	104				
AEN	64782	broad.mit.edu	37	15	89173447	89173447	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:89173447G>A	uc002bmt.2	+	4	1051	c.900G>A	c.(898-900)ATG>ATA	p.M300I	AEN_uc010bnm.1_Missense_Mutation_p.M300I	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	300					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						AACAGTACATGGAGGACCAGT	0.647		NaN											0	0	0	0.014758	0	5	8				
GRIN2A	2903	broad.mit.edu	37	16	9857673	9857673	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:9857673C>A	uc002czo.3	-	13	4276	c.3728G>T	c.(3727-3729)GGG>GTG	p.G1243V	GRIN2A_uc010uym.1_Missense_Mutation_p.G1243V|GRIN2A_uc010uyn.1_Missense_Mutation_p.G1086V|GRIN2A_uc002czr.3_Missense_Mutation_p.G1243V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1243	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAGAGGTTCCCCATCCGCAG	0.572		NaN											1	0	1.50372e-20	0.139131	1.63136e-20	68	52				
NDE1	54820	broad.mit.edu	37	16	15758666	15758666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:15758666G>A	uc002ddt.1	+	1	74	c.31G>A	c.(31-33)GAG>AAG	p.E11K	NDE1_uc010uzy.1_Missense_Mutation_p.E11K|NDE1_uc002dds.2_Missense_Mutation_p.E11K	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	11	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TTTCAGCTCCGAGGAGGAAGA	0.408		NaN											0	0	0	0.139131	0	46	98				
XYLT1	64131	broad.mit.edu	37	16	17211827	17211827	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:17211827C>T	uc002dfa.2	-	11	2318	c.2233G>A	c.(2233-2235)GAC>AAC	p.D745N		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	745	Lumenal (Potential).			D->G: Abolishes enzyme activity but does not affect UDP-binding.|D->E: No effect.	glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCATCCCAGTCAGTGCCGACC	0.547		NaN											0	0	0	0.105934	0	11	56				
KIAA0556	23247	broad.mit.edu	37	16	27761548	27761548	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:27761548G>A	uc002dow.2	+	16	3291	c.3267G>A	c.(3265-3267)GTG>GTA	p.V1089V		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1089										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TCCGAGGCGTGAAGGACATCA	0.502		NaN											0	0	0	0.086207	0	41	72				
ATXN2L	11273	broad.mit.edu	37	16	28840778	28840778	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:28840778G>A	uc002drc.2	+	7	966	c.798G>A	c.(796-798)GTG>GTA	p.V266V	uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.V266V|ATXN2L_uc002drb.2_Silent_p.V266V|ATXN2L_uc002dqy.2_Silent_p.V266V|ATXN2L_uc002dra.2_Silent_p.V266V|ATXN2L_uc002dqz.2_Silent_p.V266V|ATXN2L_uc010vdb.1_Silent_p.V266V|ATXN2L_uc002dre.2_Silent_p.V266V|ATXN2L_uc002drf.2_Intron	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	266						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACTACGGTGTGAAGACTACCT	0.458		NaN											0	0	0	0.02938	0	6	58				
SEZ6L2	26470	broad.mit.edu	37	16	29900017	29900017	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:29900017G>A	uc002duq.3	-	6	1123	c.883C>T	c.(883-885)CGG>TGG	p.R295W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dur.3_Missense_Mutation_p.R225W|SEZ6L2_uc002dus.3_Missense_Mutation_p.R181W|SEZ6L2_uc010vec.1_Missense_Mutation_p.R295W|SEZ6L2_uc010ved.1_Missense_Mutation_p.R251W	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	295	Sushi 1.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TGGGCCGGCCGGGGAGGGAAG	0.642		NaN											0	0	0	0.099896	0	23	30				
STX4	6810	broad.mit.edu	37	16	31051055	31051055	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:31051055G>C	uc002eal.2	+	10	1049	c.825G>C	c.(823-825)TTG>TTC	p.L275F	STX4_uc002eak.2_Missense_Mutation_p.L273F|STX4_uc002eam.2_Missense_Mutation_p.L197F|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	275	Cytoplasmic (Potential).|Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						AGAAAGTCTTGATTGCCATCT	0.572		NaN											0	0	0	0.139131	0	80	181				
KARS	3735	broad.mit.edu	37	16	75670391	75670391	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:75670391C>T	uc002feq.2	-	4	491	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	KARS_uc002fer.2_Missense_Mutation_p.R176Q|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	148					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	CCCCTCTCCTCGAAGATCATA	0.453		NaN											0	0	0	0.09836	0	38	223				
ADAMTS18	170692	broad.mit.edu	37	16	77356322	77356322	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:77356322C>G	uc002ffc.3	-	14	2493	c.2074G>C	c.(2074-2076)GAA>CAA	p.E692Q	ADAMTS18_uc010chc.1_Missense_Mutation_p.E280Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E388Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	692	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AAAAAAAATTCAAAGTTCTCA	0.393		NaN											0	0	0	0.038395	0	17	102				
CENPN	55839	broad.mit.edu	37	16	81045675	81045675	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:81045675G>A	uc002ffx.2	+	2	921	c.131G>A	c.(130-132)AGA>AAA	p.R44K	CENPN_uc002ffw.3_Missense_Mutation_p.R44K|CENPN_uc010vnl.1_Missense_Mutation_p.R44K|CENPN_uc010vnm.1_Missense_Mutation_p.R44K|CENPN_uc002ffy.3_Missense_Mutation_p.R44K	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	44					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						TTCCGACAGAGAAAGGAATCT	0.418		NaN											0	0	0	0.069234	0	11	79				
PKD1L2	114780	broad.mit.edu	37	16	81194496	81194496	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:81194496C>T	uc002fgh.1	-	22	3492	c.3492G>A	c.(3490-3492)CGG>CGA	p.R1164R	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1164	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTTGTGAATGCCGGGGCAGCA	0.562		NaN											0	0	0	0.009096	0	3	51				
ZC3H18	124245	broad.mit.edu	37	16	88644047	88644047	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:88644047G>C	uc002fky.2	+	2	716	c.516G>C	c.(514-516)CAG>CAC	p.Q172H	ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Missense_Mutation_p.Q172H|ZC3H18_uc010vpa.1_Missense_Mutation_p.Q172H	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	172						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTGGTGTTCAGAGTGTGGGAG	0.557		NaN											0	0	0	0.058154	0	7	60				
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:88870299C>G	uc002flu.2	+	1	114	c.60C>G	c.(58-60)ATC>ATG	p.I20M		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	20	PIP-box K+4 motif.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.572		NaN											0	0	0	0.115264	0	2	7				
TCF25	22980	broad.mit.edu	37	16	89952289	89952289	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr16:89952289G>C	uc002fpb.2	+	4	545	c.463G>C	c.(463-465)GAG>CAG	p.E155Q	TCF25_uc002fpc.2_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	155					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCGCATCCTAGAGAGGATTGA	0.458		NaN											0	0	0	0.139131	0	48	60				
VPS53	55275	broad.mit.edu	37	17	556596	556596	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:556596C>T	uc002frn.2	-	7	690	c.543G>A	c.(541-543)GTG>GTA	p.V181V	VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Silent_p.V181V|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.V152V|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	181					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGACATTCATCACACCCTGAA	0.448		NaN											0	0	0	0.076483	0	23	265				
P2RX5	5026	broad.mit.edu	37	17	3593444	3593444	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:3593444C>T	uc002fwi.2	-	6	818	c.534G>A	c.(532-534)GAG>GAA	p.E178E	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.E178E|P2RX5_uc010vrx.1_Silent_p.E118E|P2RX5_uc002fwj.2_Silent_p.E154E|P2RX5_uc002fwk.2_Silent_p.E178E|P2RX5_uc002fwl.2_Silent_p.E154E	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	178	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GGAATGGCTCCCTGAAAACCA	0.577		NaN											0	0	0	0.139131	0	50	190				
ZNF232	7775	broad.mit.edu	37	17	5009425	5009425	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:5009425G>A	uc002gas.2	-	5	1702	c.948C>T	c.(946-948)AGC>AGT	p.S316S	ZNF232_uc002gar.1_Silent_p.S334S|ZNF232_uc002gat.2_Silent_p.S343S	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	316	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CGAGGTTTGAGCTCTGTTTGA	0.433		NaN											0	0	0	0.080935	0	11	206				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.0333	0	17	25		Valid		
C17orf68	80169	broad.mit.edu	37	17	8141719	8141719	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:8141719C>G	uc002gkq.3	-	3	485	c.426G>C	c.(424-426)CTG>CTC	p.L142L	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	142					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CCTCACAGCTCAGGACGCCAG	0.488		NaN											0	0	0	0.074837	0	36	224				
MYH13	8735	broad.mit.edu	37	17	10235464	10235464	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10235464G>T	uc002gmk.1	-	20	2340	c.2250C>A	c.(2248-2250)CTC>CTA	p.L750L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	750	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CGATGGAGTTGAGGAGCTTCT	0.552		NaN											1	0	1.05317e-09	0.11911	1.11017e-09	14	130				
MYH1	4619	broad.mit.edu	37	17	10415489	10415489	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10415489G>C	uc002gmo.2	-	13	1262	c.1168C>G	c.(1168-1170)CTC>GTC	p.L390V	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	390	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGATTTTGGAGATAGGCTGCC	0.453		NaN											0	0	0	0.139131	0	238	219				
MYH3	4621	broad.mit.edu	37	17	10542949	10542949	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:10542949G>C	uc002gmq.1	-	22	2930	c.2853C>G	c.(2851-2853)CTC>CTG	p.L951L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	951	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGTCTTTCTTGAGCTCTGAGC	0.478		NaN											0	0	0	0.139131	0	117	297				
LGALS9	3965	broad.mit.edu	37	17	25967659	25967659	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:25967659C>T	uc002gzp.2	+	3	311	c.193C>T	c.(193-195)CGG>TGG	p.R65W	LGALS9_uc002gzq.2_Missense_Mutation_p.R65W|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.R65W	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	65	Galectin 1.	Beta-galactoside 1.			positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTTCAACCCTCGGTTTGAAGA	0.537		NaN											0	0	0	0.139131	0	48	69				
SUPT6H	6830	broad.mit.edu	37	17	27000441	27000441	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:27000441G>A	uc002hby.2	+	2	112	c.22G>A	c.(22-24)GAG>AAG	p.E8K	SUPT6H_uc010crt.2_Missense_Mutation_p.E8K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	8	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TGTGGAAAGCGAGGCTGAGGA	0.468		NaN											0	0	0	0.09319	0	9	36				
MYO18A	399687	broad.mit.edu	37	17	27447636	27447636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:27447636G>C	uc002hdt.1	-	7	1884	c.1726C>G	c.(1726-1728)CAG>GAG	p.Q576E	MYO18A_uc010wbc.1_Missense_Mutation_p.Q118E|MYO18A_uc002hds.2_Missense_Mutation_p.Q118E|MYO18A_uc010csa.1_Missense_Mutation_p.Q576E|MYO18A_uc002hdu.1_Missense_Mutation_p.Q576E|MYO18A_uc010wbd.1_Missense_Mutation_p.Q245E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	576	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACTCTCACCTGAATGGAGGCT	0.562		NaN											0	0	0	0.132662	0	16	26				
EFCAB5	374786	broad.mit.edu	37	17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:28405274G>A	uc002het.2	+	15	2971	c.2779G>A	c.(2779-2781)GAA>AAA	p.E927K	EFCAB5_uc010cse.2_Missense_Mutation_p.E682K|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	927							calcium ion binding			ovary(1)|skin(1)	2						CCCTGGTCACGAAGTGAGATT	0.413		NaN											0	0	0	0.083992	0	25	71				
SPACA3	124912	broad.mit.edu	37	17	31324480	31324480	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:31324480C>T	uc002hhs.1	+	4	595	c.520C>T	c.(520-522)CTC>TTC	p.L174F	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	174	Extracellular (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GAATCCTAATCTCAAGGATAC	0.413		NaN											0	0	0	0.139131	0	55	101				
SPACA3	124912	broad.mit.edu	37	17	31324482	31324482	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:31324482C>T	uc002hhs.1	+	4	597	c.522C>T	c.(520-522)CTC>CTT	p.L174L	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	174	Extracellular (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			ATCCTAATCTCAAGGATACCG	0.413		NaN											0	0	0	0.139131	0	56	102				
MYO19	80179	broad.mit.edu	37	17	34869487	34869487	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:34869487C>T	uc010wcy.1	-	11	1794	c.802G>A	c.(802-804)GAG>AAG	p.E268K	MYO19_uc002hmw.2_Missense_Mutation_p.E268K|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.E134K|MYO19_uc002hmx.2_Missense_Mutation_p.E268K	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	268	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCTCCTCTCTGGGTTGGGC	0.602		NaN											0	0	0	0.038147	0	8	34				
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.139131	0	101	153		Valid		
WNK4	65266	broad.mit.edu	37	17	40939370	40939370	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:40939370C>A	uc002ibj.2	+	7	1572	c.1551C>A	c.(1549-1551)ATC>ATA	p.I517I	WNK4_uc010wgx.1_Silent_p.I181I|WNK4_uc002ibk.1_Silent_p.I289I|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	517					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGCTGCCATCCAGCGAAAGC	0.617		NaN											1	0	6.04164e-23	0.045705	6.57189e-23	32	34				
DDX42	11325	broad.mit.edu	37	17	61869830	61869830	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:61869830G>A	uc002jbu.2	+	4	537	c.280G>A	c.(280-282)GAA>AAA	p.E94K	DDX42_uc002jbv.2_Missense_Mutation_p.E94K|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	94					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CATTCCTGCTGAAAACTCACC	0.418		NaN											0	0	0	0.139131	0	48	68				
ABCA9	10350	broad.mit.edu	37	17	66979930	66979930	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:66979930C>T	uc002jhu.2	-	36	4703	c.4560G>A	c.(4558-4560)ATG>ATA	p.M1520I	ABCA9_uc010dez.2_Missense_Mutation_p.M1482I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1520	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCTTCAGCTTCATCTCCAGCA	0.468		NaN											0	0	0	0.055883	0	21	78				
FBF1	85302	broad.mit.edu	37	17	73924184	73924184	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:73924184C>T	uc002jqc.2	-	7	602	c.328G>A	c.(328-330)GAG>AAG	p.E110K	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E100K|FBF1_uc002jqd.1_Missense_Mutation_p.E110K	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	110											0						TTGGGCAGCTCTCCTTTCCCA	0.537		NaN											0	0	0	0.014758	0	5	38				
TMC8	147138	broad.mit.edu	37	17	76134203	76134203	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76134203C>G	uc002jup.2	+	12	1849	c.1467C>G	c.(1465-1467)CTC>CTG	p.L489L	TMC8_uc002juq.2_Silent_p.L266L|TMC8_uc010wtr.1_Missense_Mutation_p.L195V|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	489	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGATGGGCCTCTTCTACTGCC	0.612		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.054565	0	34	61				
SYNGR2	9144	broad.mit.edu	37	17	76167089	76167089	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76167089C>T	uc002juu.1	+	2	318	c.291C>T	c.(289-291)AAC>AAT	p.N97N	SYNGR2_uc002jut.2_Silent_p.N97N|SYNGR2_uc002juv.1_Silent_p.N97N|SYNGR2_uc010dhi.1_Intron	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	97	MARVEL.					integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AGATCAGCAACGCCACTGACC	0.582		NaN											0	0	0	0.146539	0	17	65				
DNAH17	8632	broad.mit.edu	37	17	76445638	76445638	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:76445638A>T	uc010dhp.1	-	14	2291	c.2069T>A	c.(2068-2070)ATC>AAC	p.I690N	DNAH17_uc002jvq.2_5'UTR|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCCTCTGGATGGCTTTCTC	0.617		NaN											0	0	0	0.009096	0	4	11				
BAHCC1	57597	broad.mit.edu	37	17	79414364	79414364	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr17:79414364G>A	uc002kaf.2	+	9	3466	c.3466G>A	c.(3466-3468)GAA>AAA	p.E1156K	BAHCC1_uc002kae.2_Missense_Mutation_p.E386K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	1156							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGGGCTACAAGAACTGCAATG	0.697		NaN											0	0	0	0.115264	0	3	10				
ADCYAP1	116	broad.mit.edu	37	18	907685	907685	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:907685G>C	uc010dkg.2	+	3	255	c.136G>C	c.(136-138)GAC>CAC	p.D46H	ADCYAP1_uc010dkh.2_Missense_Mutation_p.D46H	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	46					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						GTACGGCGAGGACGGAAACCC	0.502		NaN											0	0	0	0.115264	0	2	5				
SMCHD1	23347	broad.mit.edu	37	18	2732308	2732308	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:2732308C>G	uc002klm.3	+	25	3283	c.3094C>G	c.(3094-3096)CCC>GCC	p.P1032A	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1032					chromosome organization		ATP binding				0						TAAGTTGCTTCCCAGTAGCCA	0.383		NaN											0	0	0	0.064281	0	35	95				
SMCHD1	23347	broad.mit.edu	37	18	2732428	2732428	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:2732428C>G	uc002klm.3	+	25	3403	c.3214C>G	c.(3214-3216)CAA>GAA	p.Q1072E	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1072					chromosome organization		ATP binding				0						TCTTATTTTTCAAATGTATGA	0.303		NaN											0	0	0	0.11911	0	13	36				
VAPA	9218	broad.mit.edu	37	18	9914267	9914267	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:9914267C>T	uc002kok.2	+	1	313	c.14C>T	c.(13-15)TCA>TTA	p.S5L	VAPA_uc002koj.2_Missense_Mutation_p.S5L	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	5	Cytoplasmic (Potential).				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						GCGTCCGCCTCAGGGGCCATG	0.597		NaN											0	0	0	0.009096	0	4	17				
CTAGE1	64693	broad.mit.edu	37	18	19995722	19995722	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:19995722C>T	uc002ktv.1	-	1	2157	c.2053G>A	c.(2053-2055)GGA>AGA	p.G685R		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	685	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAGGAGGTCCTCTTCTTATG	0.507		NaN											0	0	0	0.139131	0	73	122				
LAMA3	3909	broad.mit.edu	37	18	21399954	21399954	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:21399954C>G	uc002kuq.2	+	19	2383	c.2297C>G	c.(2296-2298)TCA>TGA	p.S766*	LAMA3_uc002kur.2_Nonsense_Mutation_p.S766*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	766					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATGACCTCAGTACAGGTA	0.527		NaN											0	0	0	0.047766	0	9	67				
MOCOS	55034	broad.mit.edu	37	18	33800081	33800081	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:33800081C>T	uc002kzq.3	+	9	1884	c.1861C>T	c.(1861-1863)CAC>TAC	p.H621Y		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	621					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GGTTGTGAATCACAATGGTGT	0.537		NaN											0	0	0	0.076483	0	23	30				
ZNF236	7776	broad.mit.edu	37	18	74607060	74607060	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr18:74607060C>G	uc002lmi.2	+	10	1701	c.1503C>G	c.(1501-1503)ATC>ATG	p.I501M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	501	C2H2-type 10.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCGCCACATCCGCATCCACA	0.647		NaN											0	0	0	0.11126	0	42	55				
DAZAP1	26528	broad.mit.edu	37	19	1434835	1434835	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:1434835G>C	uc002lsn.2	+	12	1337	c.1148G>C	c.(1147-1149)GGC>GCC	p.G383A	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.G382A|DAZAP1_uc002lsl.1_Missense_Mutation_p.G382A	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	383	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTcggggggcccccccgcc	0.592		NaN											0	0	0	0.11911	0	6	8				
ZFR2	23217	broad.mit.edu	37	19	3819086	3819086	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:3819086C>T	uc002lyw.2	-	12	1900	c.1888G>A	c.(1888-1890)GAG>AAG	p.E630K		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	630						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGTCCTCCTCGGCCAGTGTG	0.687		NaN											0	0	0	0.02938	0	5	21				
ZBTB7A	51341	broad.mit.edu	37	19	4048230	4048230	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:4048230C>T	uc002lzh.2	-	3	1350	c.1275G>A	c.(1273-1275)CTG>CTA	p.L425L	ZBTB7A_uc002lzi.2_Silent_p.L425L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	425	C2H2-type 2.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCACCTTCAGCTTGTCCT	0.697		NaN											0	0	0	0.09319	0	11	21				
ZBTB7A	51341	broad.mit.edu	37	19	4054074	4054074	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:4054074A>T	uc002lzh.2	-	2	1232	c.1157T>A	c.(1156-1158)ATC>AAC	p.I386N	ZBTB7A_uc002lzi.2_Missense_Mutation_p.I386N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	386	C2H2-type 1.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGCAGATGGGGCACTT	0.637		NaN											0	0	0	0.045705	0	29	43				
KIAA1543	57662	broad.mit.edu	37	19	7682676	7682676	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:7682676C>G	uc002mgv.3	+	17	3584	c.3483C>G	c.(3481-3483)CTC>CTG	p.L1161L	KIAA1543_uc002mgu.3_Silent_p.L1188L|KIAA1543_uc002mgw.2_Silent_p.L291L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	1161	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						TCCTGATCCTCTTTCGCGACT	0.637		NaN											0	0	0	0.043863	0	19	40				
MUC16	94025	broad.mit.edu	37	19	9015637	9015637	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:9015637C>G	uc002mkp.2	-	29	38390	c.38186G>C	c.(38185-38187)AGA>ACA	p.R12729T	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12731	SEA 5.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGCAGGACTCTCTCTGTGGT	0.532		NaN											0	0	0	0.099896	0	26	150				
MUC16	94025	broad.mit.edu	37	19	9076183	9076183	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:9076183G>C	uc002mkp.2	-	3	11467	c.11263C>G	c.(11263-11265)CAG>GAG	p.Q3755E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3756	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGCCCCCTGAGGAGCTGAG	0.522		NaN											0	0	0	0.144211	0	30	138				
TYK2	7297	broad.mit.edu	37	19	10488945	10488945	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:10488945G>A	uc002moc.3	-	3	516	c.138C>T	c.(136-138)TTC>TTT	p.F46F	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	46	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGACTCACTGAAAGTGACCC	0.622		NaN											0	0	0	0.134883	0	29	45				
ILF3	3609	broad.mit.edu	37	19	10793282	10793282	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:10793282G>A	uc002mpn.2	+	13	1767	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	484					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGACTCGGCTGAGGAGACCGA	0.647		NaN											0	0	0	0.058154	0	9	33				
MAST1	22983	broad.mit.edu	37	19	12975882	12975882	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:12975882C>T	uc002mvm.2	+	14	1656	c.1528C>T	c.(1528-1530)CAC>TAC	p.H510Y		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	510	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CTCCATGGGTCACATCAAGCT	0.577		NaN											0	0	0	0.069234	0	9	82				
CYP4F11	57834	broad.mit.edu	37	19	16038102	16038102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:16038102G>A	uc002nbu.2	-	5	481	c.445C>T	c.(445-447)CGG>TGG	p.R149W	CYP4F11_uc010eab.1_Missense_Mutation_p.R149W|CYP4F11_uc002nbt.2_Missense_Mutation_p.R149W	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	149					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						GTCAACATCCGACGGTGGCGG	0.537		NaN											0	0	0	0.058154	0	10	131				
ZNF714	148206	broad.mit.edu	37	19	21300143	21300143	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:21300143G>C	uc002npo.3	+	6	1036	c.676G>C	c.(676-678)GAG>CAG	p.E226Q	ZNF714_uc002npl.2_Missense_Mutation_p.E71Q|ZNF714_uc010ecp.1_Missense_Mutation_p.E177Q|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATACTGGAGAGAAACCCTA	0.408		NaN											0	0	0	0.014758	0	5	68				
RBM42	79171	broad.mit.edu	37	19	36128214	36128214	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:36128214G>A	uc002oan.2	+	9	1366	c.1290G>A	c.(1288-1290)AAG>AAA	p.K430K	RBM42_uc010eef.2_Silent_p.K376K|RBM42_uc002oao.2_Silent_p.K408K|RBM42_uc002oap.2_Silent_p.K400K|RBM42_uc002oaq.2_Silent_p.K401K|RBM42_uc010eeg.2_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	430	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGCTTCAAGGACCCCAGCG	0.647		NaN											0	0	0	0.139131	0	91	112				
ZNF569	148266	broad.mit.edu	37	19	37916855	37916855	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:37916855G>A	uc002ogi.2	-	5	711	c.153C>T	c.(151-153)TTC>TTT	p.F51F	ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.F75F	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGTTTGGTGAACGGATAGC	0.443		NaN											0	0	0	0.139131	0	58	774				
MEGF8	1954	broad.mit.edu	37	19	42873014	42873014	+	Silent	SNP	G	G	A	rs145990797		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:42873014G>A	uc002otl.3	+	36	6935	c.6300G>A	c.(6298-6300)CCG>CCA	p.P2100P	MEGF8_uc002otm.3_Silent_p.P1708P|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2167	Extracellular (Potential).|PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTGGGCGTCCGGGGGCCTCCT	0.642		NaN											0	0	0	0.139131	0	68	31				
PSG6	5675	broad.mit.edu	37	19	43585239	43585239	+	Missense_Mutation	SNP	A	A	T	rs142667584		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:43585239A>T	uc002ovi.2	-	2	317	c.224T>A	c.(223-225)CTC>CAC	p.L75H	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.L75H|PSG2_uc002ovq.3_Missense_Mutation_p.L75H|PSG2_uc010eiq.1_Missense_Mutation_p.L75H|PSG2_uc002ovs.3_Missense_Mutation_p.L75H|PSG2_uc002ovt.3_Missense_Mutation_p.L75H			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	75	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GTAATGGTAGAGGTCCCTGAT	0.433		NaN											0	0	0	0.11126	0	33	346				
XRCC1	7515	broad.mit.edu	37	19	44057007	44057007	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:44057007C>G	uc002owt.2	-	8	885	c.765G>C	c.(763-765)AAG>AAC	p.K255N	XRCC1_uc010xwp.1_Missense_Mutation_p.K224N	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	255					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TGGGGGTCTTCTTTTCTTCTT	0.498		NaN						Other_BER_factors					0	0	0	0.115264	0	3	43				
NANOS2	339345	broad.mit.edu	37	19	46417599	46417599	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:46417599C>T	uc002pdu.2	-	1	438	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	118					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTGCTGGCCACCGTTAAGCGG	0.672		NaN											0	0	0	0.055883	0	21	23				
SAE1	10055	broad.mit.edu	37	19	47706939	47706939	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:47706939C>T	uc002pgc.2	+	8	946	c.890C>T	c.(889-891)TCC>TTC	p.S297F	SAE1_uc002pgd.2_Missense_Mutation_p.P249S|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.S123F|SAE1_uc002pge.2_Missense_Mutation_p.S233F	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	297					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TACTGCTTCTCCGAGATGGCC	0.463		NaN											0	0	0	0.139131	0	78	42				
MEIS3	56917	broad.mit.edu	37	19	47910626	47910626	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:47910626G>T	uc002pgu.2	-	9	1365	c.918C>A	c.(916-918)ATC>ATA	p.I306I	MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Silent_p.I105I|MEIS3_uc002pgp.2_Silent_p.I138I|MEIS3_uc002pgq.2_Silent_p.I387I|MEIS3_uc002pgr.2_Silent_p.I174I|MEIS3_uc002pgt.2_Silent_p.I289I|MEIS3_uc002pgv.2_Silent_p.I335I|MEIS3_uc002pgs.2_Silent_p.I352I|MEIS3_uc010eld.2_Silent_p.I352I	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	306	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGACTTGCAGGATGGTGAGCC	0.597		NaN											1	0	3.95532e-38	0.139131	4.38408e-38	59	29				
SCAF1	58506	broad.mit.edu	37	19	50154733	50154733	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:50154733C>T	uc002poq.2	+	7	1211	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	363					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGGCTTGTCGGGAAGGCAA	0.721		NaN											0	0	0	0.021553	0	4	7				
C19orf51	352909	broad.mit.edu	37	19	55676784	55676784	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:55676784C>T	uc002qji.1	-	4	310	c.276G>A	c.(274-276)CTG>CTA	p.L92L	C19orf51_uc002qjj.1_Silent_p.L139L|C19orf51_uc002qjk.1_Silent_p.L38L|C19orf51_uc002qjl.1_Silent_p.L160L			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	92											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCTGAAGATCAGCATGTGTC	0.547		NaN											0	0	0	0.139131	0	43	21				
TMEM150B	284417	broad.mit.edu	37	19	55831502	55831502	+	Missense_Mutation	SNP	G	G	A	rs61737281	by1000genomes	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:55831502G>A	uc010esw.1	-	6	402	c.229C>T	c.(229-231)CTC>TTC	p.L77F	TMEM150B_uc010yfu.1_Missense_Mutation_p.L77F|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.L77F	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	77	Cytoplasmic (Potential).					integral to membrane					0						CAGTCCCGGAGCTGGTGGTAA	0.612		NaN											0	0	0	0.021553	0	5	149				
NLRP4	147945	broad.mit.edu	37	19	56392885	56392885	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:56392885G>C	uc002qmd.3	+	10	3339	c.2917G>C	c.(2917-2919)GAG>CAG	p.E973Q	NLRP4_uc002qmf.2_Missense_Mutation_p.E898Q|NLRP4_uc010etf.2_Missense_Mutation_p.E748Q	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	973							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGACGGCTGAGGAAGAGAG	0.433		NaN											0	0	0	0.144211	0	32	21				
PEG3	5178	broad.mit.edu	37	19	57327167	57327167	+	Silent	SNP	A	A	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:57327167A>G	uc002qnu.2	-	7	2994	c.2643T>C	c.(2641-2643)CCT>CCC	p.P881P	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.P852P|PEG3_uc002qnv.2_Silent_p.P881P|PEG3_uc002qnw.2_Silent_p.P757P|PEG3_uc002qnx.2_Silent_p.P755P|PEG3_uc010etr.2_Silent_p.P881P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	881					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCCTTCACAAGGGTTCTCTC	0.443		NaN											0	0	0	0.069288	0	24	110				
ZNF587	84914	broad.mit.edu	37	19	58371262	58371262	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:58371262C>T	uc002qql.2	+	3	1620	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	ZNF587_uc002qqb.2_Silent_p.C451C|ZNF587_uc010yhh.1_Silent_p.C451C|ZNF587_uc002qqi.1_Silent_p.C451C|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.C493C	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	494	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTATGAATGCAGTGAATGTG	0.413		NaN											0	0	0	0.104719	0	42	230				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:58385762C>G	uc002qqo.2	-	3	1268	c.996G>C	c.(994-996)TCG>TCC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332	C2H2-type 5.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						ATTTGCTAAACGATTTCCCAC	0.358		NaN											0	0	0	0.115264	0	2	12				
ZFP36L2	678	broad.mit.edu	37	2	43452168	43452168	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:43452168T>C	uc002rsv.3	-	2	1066	c.775A>G	c.(775-777)AGC>GGC	p.S259G	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	259					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGAGAAGCTGAGGCTGTGG	0.682		NaN											0	0	0	0.038147	0	7	12				
DUSP11	8446	broad.mit.edu	37	2	73993695	73993695	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:73993695G>C	uc002sjp.2	-	8	827	c.785C>G	c.(784-786)TCA>TGA	p.S262*		NM_003584	NP_003575	O75319	DUS11_HUMAN	dual specificity phosphatase 11	215					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			skin(1)	1						AAAATCACTTGACCTGGGTAC	0.378		NaN											0	0	0	0.139131	0	74	43				
SUCLG1	8802	broad.mit.edu	37	2	84670479	84670479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:84670479C>T	uc002son.2	-	3	440	c.247G>A	c.(247-249)GTT>ATT	p.V83I	SUCLG1_uc010ysk.1_Missense_Mutation_p.V70I	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	83					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	GTTCCTCCAACGAGTTTGGTG	0.498		NaN											0	0	0	0.139131	0	47	29				
AFF3	3899	broad.mit.edu	37	2	100209756	100209756	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:100209756C>G	uc002tag.2	-	14	2603	c.2367G>C	c.(2365-2367)TTG>TTC	p.L789F	AFF3_uc002taf.2_Missense_Mutation_p.L814F|AFF3_uc010fiq.1_Missense_Mutation_p.L789F|AFF3_uc010yvr.1_Missense_Mutation_p.L942F|AFF3_uc002tah.1_Missense_Mutation_p.L814F	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	789					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CAGGGGCGCTCAATACCCCTG	0.577		NaN											0	0	0	0.069288	0	22	40				
SLC5A7	60482	broad.mit.edu	37	2	108626840	108626840	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:108626840T>C	uc002tdv.2	+	9	1542	c.1266T>C	c.(1264-1266)CTT>CTC	p.L422L	SLC5A7_uc010ywm.1_Silent_p.L175L|SLC5A7_uc010fjj.2_Silent_p.L422L|SLC5A7_uc010ywn.1_Silent_p.L309L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	422	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	CCCAGCTGCTTTGTGTACTCT	0.498		NaN											0	0	0	0.139131	0	53	45				
IWS1	55677	broad.mit.edu	37	2	128253576	128253576	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:128253576C>G	uc002ton.2	-	7	2017	c.1714G>C	c.(1714-1716)GAG>CAG	p.E572Q	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	572					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CAGCTCACCTCAGCAGCTTCA	0.468		NaN											0	0	0	0.139131	0	119	85				
XIRP2	129446	broad.mit.edu	37	2	168100730	168100730	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:168100730G>C	uc002udx.2	+	8	2846	c.2828G>C	c.(2827-2829)GGA>GCA	p.G943A	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G768A|XIRP2_uc010fpq.2_Missense_Mutation_p.G721A|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	768	Xin 12.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTTGACAGAGGAGATGTGAAG	0.343		NaN											0	0	0	0.134883	0	32	36				
MYO3B	140469	broad.mit.edu	37	2	171356164	171356164	+	Silent	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:171356164C>G	uc002ufy.2	+	27	3278	c.3135C>G	c.(3133-3135)CTC>CTG	p.L1045L	MYO3B_uc002ufv.2_Silent_p.L1032L|MYO3B_uc010fqb.1_Silent_p.L1032L|MYO3B_uc002ufz.2_Silent_p.L1045L|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1045	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						AGGTTTTTCTCAAATATTACC	0.388		NaN											0	0	0	0.069234	0	9	60				
INO80D	54891	broad.mit.edu	37	2	206869542	206869542	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:206869542C>T	uc002vaz.3	-	11	3039	c.2634G>A	c.(2632-2634)GTG>GTA	p.V878V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CTCCAAGTGGCACCTCAAGTT	0.547		NaN											0	0	0	0.055883	0	21	35				
INPP5D	3635	broad.mit.edu	37	2	234079249	234079249	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:234079249C>T	uc010zmo.1	+	15	2052	c.1899C>T	c.(1897-1899)TTC>TTT	p.F633F	INPP5D_uc010zmp.1_Silent_p.F632F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	633					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTACACTTCGGTAAGAGCA	0.323		NaN											0	0	0	0.132662	0	16	18				
COL6A3	1293	broad.mit.edu	37	2	238277740	238277740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr2:238277740G>A	uc002vwl.2	-	10	4651	c.4366C>T	c.(4366-4368)CGA>TGA	p.R1456*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1250*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R849*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1456	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAAAATCTCGAATATGTGCA	0.458		NaN											0	0	0	0.055883	0	21	15				
RBCK1	10616	broad.mit.edu	37	20	390664	390664	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:390664C>T	uc002wdp.3	+	2	855	c.162C>T	c.(160-162)GAC>GAT	p.D54D	RBCK1_uc010zpl.1_Silent_p.D54D|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Intron|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron|RBCK1_uc002wdo.2_RNA	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	54	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAACGCAGGACATCAGGTGAG	0.517		NaN											0	0	0	0.076483	0	24	41				
BFSP1	631	broad.mit.edu	37	20	17492687	17492687	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:17492687G>C	uc002wpo.2	-	4	600	c.561C>G	c.(559-561)ATC>ATG	p.I187M	BFSP1_uc002wpp.2_Missense_Mutation_p.I62M|BFSP1_uc010zrn.1_Missense_Mutation_p.I48M|BFSP1_uc010zro.1_Missense_Mutation_p.I48M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	187	Rod.|Linker 12.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						GCAGGATGCTGATATAGGTCT	0.473		NaN											0	0	0	0.038395	0	17	62				
TMEM90B	79953	broad.mit.edu	37	20	24524190	24524190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:24524190G>A	uc002wtw.1	+	2	1090	c.457G>A	c.(457-459)GAG>AAG	p.E153K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	153	Poly-Glu.|Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						TGTGGAGGAGGAGGAGGAGTT	0.542		NaN											0	0	0	0.139131	0	44	114				
KIAA1755	85449	broad.mit.edu	37	20	36870149	36870149	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:36870149G>C	uc002xhy.1	-	3	656	c.384C>G	c.(382-384)CTC>CTG	p.L128L	KIAA1755_uc002xhz.1_Silent_p.L128L	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	128										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				CCACTGTGCAGAGGTCCAGGG	0.537		NaN											0	0	0	0.11126	0	42	135				
PPP1R16B	26051	broad.mit.edu	37	20	37547022	37547022	+	Missense_Mutation	SNP	A	A	C	rs61752055	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:37547022A>C	uc002xje.2	+	11	1606	c.1417A>C	c.(1417-1419)AAG>CAG	p.K473Q	PPP1R16B_uc010ggc.2_Missense_Mutation_p.K431Q	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	473					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.K473Q(1)		upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAGCAGCTACAAGGAACAGAG	0.642		NaN											0	0	0	0.014758	0	5	122				
SLC12A5	57468	broad.mit.edu	37	20	44676189	44676189	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44676189C>G	uc010zxl.1	+	15	2029	c.1953C>G	c.(1951-1953)ATC>ATG	p.I651M	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.I628M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	651	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGACTCATCTACAAGTACA	0.318		NaN											0	0	0	0.043863	0	18	156				
SLC12A5	57468	broad.mit.edu	37	20	44676672	44676672	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44676672C>G	uc010zxl.1	+	16	2105	c.2029C>G	c.(2029-2031)CGC>GGC	p.R677G	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R654G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	677					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGTGCGGCTCGCTATGCCCT	0.602		NaN											0	0	0	0.009096	0	4	17				
CDH22	64405	broad.mit.edu	37	20	44806753	44806753	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44806753C>T	uc002xrm.2	-	10	2148	c.1747G>A	c.(1747-1749)GAC>AAC	p.D583N	CDH22_uc010ghk.1_Missense_Mutation_p.D583N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	583	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GGCCCACTGTCTACCACCAGG	0.632		NaN											0	0	0	0.021553	0	6	37				
ZNF831	128611	broad.mit.edu	37	20	57767194	57767194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:57767194G>A	uc002yan.2	+	1	1120	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	374						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CGCCGAGTCCGAGGGGGAggg	0.527		NaN											0	0	0	0.02938	0	6	12				
CDH4	1002	broad.mit.edu	37	20	60511869	60511869	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:60511869C>T	uc002ybn.1	+	16	2633	c.2619C>T	c.(2617-2619)AGC>AGT	p.S873S	CDH4_uc002ybp.1_Silent_p.S799S|uc002ybr.1_5'Flank	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	873	Ser-rich.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGAGGGGAGCGGCTCCACCG	0.622		NaN											0	0	0	0.02938	0	7	48				
EEF1A2	1917	broad.mit.edu	37	20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:62121972C>T	uc002yfd.1	-	5	990	c.889G>A	c.(889-891)GAG>AAG	p.E297K	EEF1A2_uc002yfe.1_Missense_Mutation_p.E297K|EEF1A2_uc010gkg.1_Missense_Mutation_p.E297K	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	297						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627		NaN											0	0	0	0.092188	0	38	104				
GRIK1	2897	broad.mit.edu	37	21	31062135	31062135	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:31062135C>A	uc002yno.1	-	3	921	c.457G>T	c.(457-459)GAT>TAT	p.D153Y	GRIK1_uc002ynn.2_Missense_Mutation_p.D153Y|GRIK1_uc011acs.1_Missense_Mutation_p.D153Y|GRIK1_uc011act.1_Missense_Mutation_p.D97Y|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.D153Y	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	153	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCTGCATAATCTGGGTAAAGG	0.473		NaN											1	0	3.90494e-43	0.139131	4.35183e-43	90	140				
RUNX1	861	broad.mit.edu	37	21	36206817	36206817	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:36206817C>A	uc002yuh.2	-	4	2192	c.614G>T	c.(613-615)CGG>CTG	p.R205L	RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Missense_Mutation_p.R232L|RUNX1_uc010gmv.2_Missense_Mutation_p.R232L|RUNX1_uc002yuj.3_Missense_Mutation_p.R100L|RUNX1_uc002yuk.3_Missense_Mutation_p.R232L|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Missense_Mutation_p.R232L|RUNX1_uc002yuo.1_Missense_Mutation_p.R205L	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	205	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GGCTGTGCGCCGCAGCTGCTC	0.597		NaN	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				1	0	7.73544e-29	0.139131	8.50483e-29	59	45				
DSCAM	1826	broad.mit.edu	37	21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:41465774C>T	uc002yyq.1	-	21	4176	c.3724G>A	c.(3724-3726)GAC>AAC	p.D1242N	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1242	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAACGAGTCGGGAGAGGCC	0.478		NaN											0	0	0	0.069288	0	21	41				
PCNT	5116	broad.mit.edu	37	21	47809235	47809235	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr21:47809235C>T	uc002zji.3	+	19	3836	c.3729C>T	c.(3727-3729)CTC>CTT	p.L1243L	PCNT_uc002zjj.2_Silent_p.L1125L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1243					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAAGCTTTCTCATGAGCCCAG	0.577		NaN											0	0	0	0.059317	0	31	83				
SUSD2	56241	broad.mit.edu	37	22	24579560	24579560	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr22:24579560A>T	uc002zzn.1	+	3	429	c.385A>T	c.(385-387)ACT>TCT	p.T129S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	129	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CATCCCCTTCACTGTGTCACT	0.642		NaN											0	0	0	0.139131	0	45	30				
EMID1	129080	broad.mit.edu	37	22	29628275	29628275	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr22:29628275G>A	uc003aen.2	+	8	776	c.701G>A	c.(700-702)CGG>CAG	p.R234Q	EMID1_uc003aem.2_Missense_Mutation_p.R236Q|EMID1_uc003aeo.2_Missense_Mutation_p.R236Q|EMID1_uc003aep.2_Missense_Mutation_p.R236Q	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	234	Collagen-like.					collagen					0						AGCCCTGGCCGGGCTGGAGCT	0.701		NaN											0	0	0	0.134883	0	31	25				
PLCL2	23228	broad.mit.edu	37	3	17051752	17051752	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:17051752C>T	uc011awc.1	+	5	995	c.890C>T	c.(889-891)ACG>ATG	p.T297M	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.1_Missense_Mutation_p.T179M	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	305					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						GGTTTAAAAACGAGCAAAATT	0.348		NaN											0	0	0	0.125774	0	30	83				
NKTR	4820	broad.mit.edu	37	3	42679721	42679721	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:42679721G>C	uc003clo.2	+	13	2672	c.2525G>C	c.(2524-2526)AGA>ACA	p.R842T	NKTR_uc003clm.1_Missense_Mutation_p.R589T|NKTR_uc003clp.2_Missense_Mutation_p.R589T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R732T|NKTR_uc003clr.1_Missense_Mutation_p.R589T|NKTR_uc003cls.2_Missense_Mutation_p.R542T	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	842					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAAAAAAACAGAGGTGAAGAA	0.413		NaN											0	0	0	0.146539	0	14	50				
BSN	8927	broad.mit.edu	37	3	49698687	49698687	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:49698687G>A	uc003cxe.3	+	6	9523	c.9409G>A	c.(9409-9411)GAT>AAT	p.D3137N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3137					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGTCCCCGCTGATAGCCGTGC	0.622		NaN											0	0	0	0.038395	0	15	44				
IP6K1	9807	broad.mit.edu	37	3	49770248	49770248	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:49770248C>T	uc003cxm.1	-	4	907	c.592G>A	c.(592-594)GAG>AAG	p.E198K	IP6K1_uc003cxn.1_Missense_Mutation_p.E33K|IP6K1_uc011bcv.1_Missense_Mutation_p.E33K|IP6K1_uc003cxo.2_Missense_Mutation_p.E198K	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	198					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						TCCTTGGACTCGGAGCGCATG	0.567		NaN											0	0	0	0.038395	0	18	44				
ADAMTS9	56999	broad.mit.edu	37	3	64607948	64607948	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:64607948G>A	uc003dmg.2	-	18	2644	c.2612C>T	c.(2611-2613)CCA>CTA	p.P871L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.P843L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P700L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P871L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	871	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCTTCAATTGGAATATTGAA	0.438		NaN											0	0	0	0.038395	0	18	47				
TOMM70A	9868	broad.mit.edu	37	3	100105732	100105732	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:100105732C>T	uc003dtw.2	-	2	847	c.415G>A	c.(415-417)GAG>AAG	p.E139K		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	139	TPR 1.|Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTAATAGCCTCAGTATAGCAC	0.383		NaN											0	0	0	0.069288	0	24	103				
ARHGAP31	57514	broad.mit.edu	37	3	119134233	119134233	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:119134233G>C	uc003ecj.3	+	12	3989	c.3457G>C	c.(3457-3459)GAC>CAC	p.D1153H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1153					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CTGTAAAGCAGACCCCTGGAG	0.537		NaN											0	0	0	0.105934	0	14	63				
PLS1	5357	broad.mit.edu	37	3	142403175	142403175	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:142403175G>T	uc010huv.2	+	8	985	c.826G>T	c.(826-828)GTG>TTG	p.V276L	PLS1_uc003euz.2_Missense_Mutation_p.V276L|PLS1_uc003eva.2_Missense_Mutation_p.V276L	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1	276	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						GCTGCGATGGGTGAACTACCA	0.413		NaN											1	0	5.39261e-20	0.139131	5.83486e-20	56	53				
MED12L	116931	broad.mit.edu	37	3	151112453	151112453	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:151112453G>C	uc003eyp.2	+	37	5551	c.5513G>C	c.(5512-5514)AGA>ACA	p.R1838T	MED12L_uc011bnz.1_Missense_Mutation_p.R1698T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1838					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGGCTCCAGATTGGACCCT	0.463		NaN											0	0	0	0.11126	0	39	156				
RTP2	344892	broad.mit.edu	37	3	187419823	187419823	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:187419823C>T	uc003fro.1	-	1	523	c.94G>A	c.(94-96)GAC>AAC	p.D32N		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	32	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGGTTGGGGTCTATGATGAGC	0.577		NaN											0	0	0	0.092188	0	38	181				
SENP5	205564	broad.mit.edu	37	3	196612107	196612107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr3:196612107G>C	uc003fwz.3	+	2	304	c.55G>C	c.(55-57)GAG>CAG	p.E19Q	SENP5_uc011bty.1_Missense_Mutation_p.E19Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	19					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGCCTTTTCTGAGAAATGGAA	0.383		NaN											0	0	0	0.076483	0	24	76				
LIMCH1	22998	broad.mit.edu	37	4	41668680	41668680	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:41668680C>G	uc003gvu.3	+	16	2293	c.2239C>G	c.(2239-2241)CAA>GAA	p.Q747E	LIMCH1_uc003gvv.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q747E|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q735E|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q576E|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q588E|LIMCH1_uc003gvz.3_Missense_Mutation_p.Q1132E|LIMCH1_uc011byu.1_Missense_Mutation_p.Q581E|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q593E|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q581E|LIMCH1_uc011byv.1_Missense_Mutation_p.Q498E|LIMCH1_uc011byw.1_Missense_Mutation_p.Q47E	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	747					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TCTCAATTCTCAAGGTAAAGA	0.393		NaN											0	0	0	0.058154	0	9	40				
GABRG1	2565	broad.mit.edu	37	4	46099350	46099350	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:46099350C>T	uc003gxb.2	-	2	273	c.121G>A	c.(121-123)GAT>AAT	p.D41N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	41	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCATCTTCATCATCTGCCTTA	0.328		NaN											0	0	0	0.139131	0	60	58				
PRKG2	5593	broad.mit.edu	37	4	82126175	82126175	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:82126175T>C	uc003hmh.2	-	1	41	c.27A>G	c.(25-27)AAA>AAG	p.K9K	PRKG2_uc011cch.1_Silent_p.K9K	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	9					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GCTTAGAATGTTTAGGTTTCA	0.502		NaN											0	0	0	0.058154	0	10	40				
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:103730859C>A	uc003hwk.2	-	4	551	c.90G>T	c.(88-90)ATG>ATT	p.M30I	UBE2D3_uc003hwi.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.M30I|UBE2D3_uc011cet.1_Missense_Mutation_p.M30I|UBE2D3_uc011ceu.1_Missense_Mutation_p.M30I|UBE2D3_uc003hwo.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwp.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwq.2_Missense_Mutation_p.M32I|UBE2D3_uc003hwr.2_Missense_Mutation_p.M30I	NM_181887	NP_871616	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 1	30					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GCCAATGAAACACTAGAAAAA	0.284		NaN											1	0	0.000157383	0.038147	0.000160124	7	40				
ANK2	287	broad.mit.edu	37	4	114251565	114251565	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:114251565G>A	uc003ibe.3	+	27	3164	c.3064G>A	c.(3064-3066)GAA>AAA	p.E1022K	ANK2_uc003ibd.3_Missense_Mutation_p.E1013K|ANK2_uc003ibf.3_Missense_Mutation_p.E1022K|ANK2_uc011cgc.1_Missense_Mutation_p.E231K|ANK2_uc003ibg.3_Missense_Mutation_p.E50K|ANK2_uc003ibc.2_Missense_Mutation_p.E998K|ANK2_uc011cgb.1_Missense_Mutation_p.E1037K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAATGGTGGAAGGAGAAGG	0.537		NaN											0	0	0	0.09836	0	39	17				
EDNRA	1909	broad.mit.edu	37	4	148406959	148406959	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:148406959C>A	uc003iky.2	+	2	818	c.126C>A	c.(124-126)GGC>GGA	p.G42G	EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Silent_p.G42G|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Silent_p.G42G	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	42	Extracellular (Potential).				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTTTTCGTGGCACAGAGCTCA	0.448		NaN											1	0	4.54149e-19	0.069288	4.90097e-19	24	123				
KIAA0922	23240	broad.mit.edu	37	4	154544213	154544213	+	Silent	SNP	C	C	T	rs140734056	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr4:154544213C>T	uc003inm.3	+	29	4072	c.4020C>T	c.(4018-4020)GAC>GAT	p.D1340D	KIAA0922_uc010ipp.2_Silent_p.D1341D|KIAA0922_uc010ipq.2_Silent_p.D1109D	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1340	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCATGGTGGACGCCCAGCACT	0.682		NaN											0	0	0	0.047766	0	8	57				
EXOC3	11336	broad.mit.edu	37	5	464494	464494	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:464494C>T	uc003jba.2	+	10	1871	c.1743C>T	c.(1741-1743)AAC>AAT	p.N581N		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	592					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTATTTCAACGATTTTGCCA	0.443		NaN											0	0	0	0.049695	0	19	209				
NDUFS6	4726	broad.mit.edu	37	5	1801637	1801637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:1801637G>A	uc003jcy.2	+	1	129	c.106G>A	c.(106-108)GGG>AGG	p.G36R	MRPL36_uc003jcx.3_5'Flank	NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	36					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	CTCGCCGACCGGGGAGAAGGT	0.721		NaN											0	0	0	0.069234	0	11	9				
ADCY2	108	broad.mit.edu	37	5	7520895	7520895	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:7520895G>A	uc003jdz.1	+	3	520	c.453G>A	c.(451-453)CTG>CTA	p.L151L		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	151	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ACACCATGCTGCCCTTCAACA	0.522		NaN											0	0	0	0.045705	0	32	150				
CDH10	1008	broad.mit.edu	37	5	24509787	24509787	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:24509787G>C	uc003jgr.1	-	7	1476	c.1144C>G	c.(1144-1146)CCT>GCT	p.P382A	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	382	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTAAAAACAGGAGGTTCATCC	0.393		NaN								HNSCC(23;0.051)			0	0	0	0.0333	0	17	124				
ADAMTS12	81792	broad.mit.edu	37	5	33614470	33614470	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:33614470C>G	uc003jia.1	-	16	2563	c.2400G>C	c.(2398-2400)CAG>CAC	p.Q800H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q715H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	800	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGTTAGTCACCTGGAATAGAA	0.438		NaN								HNSCC(64;0.19)			0	0	0	0.038147	0	6	90				
CAPSL	133690	broad.mit.edu	37	5	35910153	35910153	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:35910153C>G	uc003jjt.1	-	4	435	c.340G>C	c.(340-342)GAG>CAG	p.E114Q	CAPSL_uc003jju.1_Missense_Mutation_p.E114Q	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	114	EF-hand 3.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATGATTACCTCTTTTCTGGCT	0.353		NaN											0	0	0	0.139131	0	55	144				
EGFLAM	133584	broad.mit.edu	37	5	38435313	38435313	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:38435313G>C	uc003jlc.1	+	16	2565	c.2241G>C	c.(2239-2241)AAG>AAC	p.K747N	EGFLAM_uc003jlb.1_Missense_Mutation_p.K747N|EGFLAM_uc003jle.1_Missense_Mutation_p.K513N|EGFLAM_uc003jlf.1_Missense_Mutation_p.K113N	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	747	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					ATGTGAAGAAGAACTCGGGTG	0.463		NaN											0	0	0	0.125774	0	30	113				
ZNF131	7690	broad.mit.edu	37	5	43122240	43122240	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:43122240G>C	uc011cpw.1	+	2	121	c.85G>C	c.(85-87)GAG>CAG	p.E29Q	ZNF131_uc010ivl.1_Missense_Mutation_p.E29Q|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.E29Q|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_RNA|ZNF131_uc010ivm.1_RNA|ZNF131_uc003jnm.2_Missense_Mutation_p.E29Q	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	29						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGAACAGCGAGAGCAGGACCG	0.517		NaN											0	0	0	0.139131	0	89	88				
POLK	51426	broad.mit.edu	37	5	74877153	74877153	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74877153G>A	uc003kdw.2	+	7	910	c.814G>A	c.(814-816)GAA>AAA	p.E272K	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E272K|POLK_uc003keb.2_Missense_Mutation_p.E272K|POLK_uc010izq.2_Missense_Mutation_p.E272K|POLK_uc003kec.2_Missense_Mutation_p.E182K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E182K|POLK_uc003kee.2_Missense_Mutation_p.E272K|POLK_uc003kef.2_Missense_Mutation_p.E182K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	272	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTGAACTTTGAAGAACAAAA	0.408		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.076483	0	24	38				
POLK	51426	broad.mit.edu	37	5	74892196	74892196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74892196G>A	uc003kdw.2	+	13	1774	c.1678G>A	c.(1678-1680)GAA>AAA	p.E560K	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.E362K|POLK_uc003kec.2_Missense_Mutation_p.E470K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.E470K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	560					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAACCTCTAGAAATGTCTCA	0.358		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.083992	0	24	23				
POC5	134359	broad.mit.edu	37	5	74970365	74970365	+	Silent	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:74970365C>A	uc003keh.3	-	12	1820	c.1623G>T	c.(1621-1623)CGG>CGT	p.R541R	POC5_uc010izu.2_Silent_p.R365R|POC5_uc003keg.3_Silent_p.R516R	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	541					cell cycle	centriole				lung(1)	1						GATGAATGGTCCGGGGATATT	0.398		NaN											1	0	8.92586e-32	0.139131	9.8667e-32	92	79				
ACOT12	134526	broad.mit.edu	37	5	80640791	80640791	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:80640791G>A	uc003khl.3	-	8	898	c.843C>T	c.(841-843)ATC>ATT	p.I281I	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	281	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAGCACTGTTGATGTGACGCC	0.493		NaN											0	0	0	0.104719	0	44	46				
UBE2B	7320	broad.mit.edu	37	5	133724024	133724024	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:133724024G>T	uc003kzh.2	+	5	667	c.250G>T	c.(250-252)GAT>TAT	p.D84Y		NM_003337	NP_003328	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	84					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTATGCTGATGGTAGCAT	0.348		NaN						Direct_reversal_of_damage|Rad6_pathway					1	0	4.96729e-08	0.049695	5.18271e-08	20	44				
PCDHAC2	56134	broad.mit.edu	37	5	140348520	140348520	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:140348520C>T	uc003lii.2	+	1	2409	c.2169C>T	c.(2167-2169)ATC>ATT	p.I723I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.I723I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	723	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGACAATCATCATTTTGA	0.433		NaN											0	0	0	0.11911	0	14	85				
PCDHAC2	56134	broad.mit.edu	37	5	140348753	140348753	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:140348753C>T	uc003lii.2	+	1	2642	c.2402C>T	c.(2401-2403)TCA>TTA	p.S801L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.S801L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	801	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGGCTCAGGGAGTGAC	0.552		NaN											0	0	0	0.116897	0	28	54				
RBM22	55696	broad.mit.edu	37	5	150080509	150080509	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:150080509C>G	uc003lst.2	-	1	161	c.39G>C	c.(37-39)CAG>CAC	p.Q13H		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	13					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCCAGTTCTGCCTGTTGT	0.637		NaN									OREG0016939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.064281	0	33	31				
MSX2	4488	broad.mit.edu	37	5	174156555	174156555	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:174156555C>T	uc003mcy.2	+	2	861	c.773C>T	c.(772-774)CCA>CTA	p.P258L		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	258					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TATGCCACGCCAGTGGGATAT	0.547		NaN											0	0	0	0.108266	0	27	58				
SLC35B3	51000	broad.mit.edu	37	6	8417151	8417151	+	Missense_Mutation	SNP	C	C	G	rs145512512		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:8417151C>G	uc010joe.2	-	9	1117	c.951G>C	c.(949-951)TTG>TTC	p.L317F	SLC35B3_uc003mya.2_Missense_Mutation_p.L285F|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.L317F|SLC35B3_uc011did.1_Missense_Mutation_p.L317F|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	317	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					AAATTTTAATCAAAGCCAGAA	0.348		NaN											0	0	0	0.139131	0	45	65				
JARID2	3720	broad.mit.edu	37	6	15452374	15452374	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:15452374C>T	uc003nbj.2	+	4	705	c.461C>T	c.(460-462)ACA>ATA	p.T154I	JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.T116I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	154					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGCCTAAGACAGAAGATTTT	0.488		NaN											0	0	0	0.144211	0	31	74				
SLC17A2	10246	broad.mit.edu	37	6	25918715	25918715	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:25918715C>T	uc011dkb.1	-	5	732	c.649G>A	c.(649-651)GGT>AGT	p.G217S	SLC17A2_uc011dkc.1_Missense_Mutation_p.G217S|SLC17A2_uc003nfl.2_Missense_Mutation_p.G217S			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	217	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						AGTGACTCACCAAAGATGTAG	0.443		NaN											0	0	0	0.069234	0	11	59				
FLOT1	10211	broad.mit.edu	37	6	30698322	30698322	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30698322G>C	uc003nrm.2	-	11	1136	c.972C>G	c.(970-972)GCC>GCG	p.A324A	FLOT1_uc011dmr.1_Silent_p.A276A	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	324						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						CTATGGCAAAGGCCTCAGCTT	0.567		NaN											0	0	0	0.0918	0	25	249				
VARS2	57176	broad.mit.edu	37	6	30884992	30884992	+	Silent	SNP	G	G	A	rs59234326	by1000genomes	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30884992G>A	uc003nsc.1	+	8	1496	c.864G>A	c.(862-864)TCG>TCA	p.S288S	VARS2_uc003nsd.2_Silent_p.S288S|VARS2_uc011dmx.1_Silent_p.S288S|VARS2_uc011dmy.1_Silent_p.S148S|VARS2_uc011dmz.1_Silent_p.S318S|VARS2_uc011dna.1_Silent_p.S288S|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	288					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CAGCCATCTCGGACATTGAGG	0.438		NaN											0	0	0	0.139131	0	105	119				
VARS2	57176	broad.mit.edu	37	6	30889068	30889068	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:30889068G>C	uc003nsc.1	+	16	2250	c.1618G>C	c.(1618-1620)GAG>CAG	p.E540Q	VARS2_uc011dmx.1_Missense_Mutation_p.E540Q|VARS2_uc011dmy.1_Missense_Mutation_p.E400Q|VARS2_uc011dmz.1_Missense_Mutation_p.E570Q|VARS2_uc011dna.1_Missense_Mutation_p.E538Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	540					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CCTGGTTGTAGAGGACCATGC	0.612		NaN											0	0	0	0.0918	0	25	61				
ATP6V1G2	534	broad.mit.edu	37	6	31513918	31513918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:31513918G>A	uc003nua.2	-	2	442	c.151C>T	c.(151-153)CGA>TGA	p.R51*	BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Nonsense_Mutation_p.R10*|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	NM_130463	NP_569730	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	51					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding				0						TCGTGCTCTCGCTCTCTGCGG	0.582		NaN											0	0	0	0.139131	0	52	117				
BAT2	7916	broad.mit.edu	37	6	31601375	31601375	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:31601375G>A	uc003nvb.3	+	17	4788	c.4539G>A	c.(4537-4539)AGG>AGA	p.R1513R	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.R1513R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1513	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CCTCTCCTAGGCCCCCAACCC	0.612		NaN											0	0	0	0.09319	0	12	40				
TULP1	7287	broad.mit.edu	37	6	35471368	35471368	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:35471368C>T	uc003okv.3	-	13	1303	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	TULP1_uc003okw.3_Missense_Mutation_p.E378K	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	431					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						CTCTCGTTCTCCGCACTCATG	0.637		NaN											0	0	0	0.115264	0	2	5				
CYP39A1	51302	broad.mit.edu	37	6	46620303	46620303	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:46620303G>T	uc003oyf.1	-	1	221	c.17C>A	c.(16-18)CCA>CAA	p.P6Q	CYP39A1_uc011dwa.1_Missense_Mutation_p.P6Q|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.1_5'Flank|SLC25A27_uc003oyg.2_5'Flank|SLC25A27_uc003oyh.2_5'Flank|SLC25A27_uc011dwc.1_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	6					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						AATCACTGTTGGGGAAATTAG	0.483		NaN											1	0	5.42381e-49	0.139131	6.07763e-49	88	264				
RNGTT	8732	broad.mit.edu	37	6	89388140	89388140	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:89388140T>C	uc003pmr.2	-	14	1660	c.1440_splice	c.e14-1	p.G480_splice	RNGTT_uc003pms.2_Splice_Site_p.G457_splice|RNGTT_uc011dzu.1_Splice_Site_p.G397_splice|RNGTT_uc003pmt.2_Intron	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GGAAGTAACCTACAAAGAAAA	0.254		NaN											0	0	0	0.076483	0	22	31				
ASCC3	10973	broad.mit.edu	37	6	101214503	101214503	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:101214503T>C	uc003pqk.2	-	10	2004	c.1675A>G	c.(1675-1677)ATC>GTC	p.I559V	ASCC3_uc011eai.1_Missense_Mutation_p.I461V|ASCC3_uc003pql.2_Missense_Mutation_p.I559V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	559	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCACAATGATGCCTAGTGGC	0.383		NaN											0	0	0	0.09836	0	42	74				
GRIK2	2898	broad.mit.edu	37	6	102483434	102483434	+	Silent	SNP	T	T	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:102483434T>C	uc003pqp.3	+	14	2553	c.2304T>C	c.(2302-2304)ACT>ACC	p.T768T	GRIK2_uc003pqo.3_Silent_p.T768T|GRIK2_uc010kcw.2_Silent_p.T768T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	768	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GCGTTGGCACTCCCATGGGTA	0.443		NaN											0	0	0	0.131918	0	47	134				
PPIL4	85313	broad.mit.edu	37	6	149867087	149867087	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:149867087C>T	uc003qmo.1	-	1	85	c.55G>A	c.(55-57)GAA>AAA	p.E19K	PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.E19K	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	19	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GGCCGTTCTTCGGTGTACAAG	0.647		NaN											0	0	0	0.014758	0	5	9				
SYNE1	23345	broad.mit.edu	37	6	152686043	152686043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr6:152686043G>A	uc010kiw.2	-	63	10686	c.10084C>T	c.(10084-10086)CAG>TAG	p.Q3362*	SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3369*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3362*|SYNE1_uc010kja.1_Nonsense_Mutation_p.Q67*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3362	Spectrin 7.|HAT 6.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGCAGCTGCTGCTGAATA	0.458		NaN								HNSCC(10;0.0054)			0	0	0	0.064281	0	37	93				
MAD1L1	8379	broad.mit.edu	37	7	2188842	2188842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:2188842C>G	uc003slh.1	-	11	1284	c.1018G>C	c.(1018-1020)GAG>CAG	p.E340Q	MAD1L1_uc003sle.1_Missense_Mutation_p.E69Q|MAD1L1_uc003slf.1_Missense_Mutation_p.E340Q|MAD1L1_uc003slg.1_Missense_Mutation_p.E340Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.E340Q|MAD1L1_uc003sli.1_Missense_Mutation_p.E248Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.E293Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.E340Q	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	340	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGCTGCAGCTCAACCACGAAT	0.547		NaN											0	0	0	0.09319	0	12	34				
ANLN	54443	broad.mit.edu	37	7	36438775	36438775	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:36438775C>T	uc003tff.2	+	3	464	c.260C>T	c.(259-261)CCA>CTA	p.P87L	ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Missense_Mutation_p.P87L|ANLN_uc010kxe.2_Missense_Mutation_p.P87L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	87	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						AATAAACAACCAGTTGAGTCG	0.418		NaN											0	0	0	0.105934	0	14	51				
POLD2	5425	broad.mit.edu	37	7	44156568	44156568	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:44156568C>T	uc010kxz.2	-	7	1278	c.628G>A	c.(628-630)GAG>AAG	p.E210K	POLD2_uc003tke.3_Missense_Mutation_p.E210K|POLD2_uc010kya.2_Missense_Mutation_p.E210K|POLD2_uc003tkf.3_Missense_Mutation_p.E210K	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	210					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						AGCAGGCTCTCGCCTCCACCG	0.692		NaN											0	0	0	0.09319	0	12	20				
TYW1	55253	broad.mit.edu	37	7	66463173	66463173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:66463173C>G	uc003tvn.2	+	2	275	c.126C>G	c.(124-126)ATC>ATG	p.I42M	SBDS_uc003tvm.1_5'Flank|TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	42					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGATTGTCATCAAGACGCAGG	0.318		NaN											0	0	0	0.092188	0	39	118				
BAZ1B	9031	broad.mit.edu	37	7	72892759	72892759	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:72892759C>T	uc003tyc.2	-	7	1377	c.1032G>A	c.(1030-1032)AAG>AAA	p.K344K		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	344	Mediates the tyrosine-protein kinase activity.|Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACTCAATGACTTCTTCAAGT	0.423		NaN											0	0	0	0.059317	0	30	78				
SEMA3C	10512	broad.mit.edu	37	7	80418743	80418743	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:80418743G>C	uc003uhj.2	-	12	1795	c.1233C>G	c.(1231-1233)ATC>ATG	p.I411M	SEMA3C_uc011kgw.1_Missense_Mutation_p.I429M	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	411	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						GGATTGGGTAGATGGAATTGT	0.453		NaN											0	0	0	0.139131	0	47	56				
BAIAP2L1	55971	broad.mit.edu	37	7	97944889	97944889	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:97944889G>T	uc003upj.2	-	7	785	c.522C>A	c.(520-522)ATC>ATA	p.I174I		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	174	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGAATTTCTGGATTTCACTCT	0.383		NaN											1	0	2.20262e-25	0.054565	2.40875e-25	35	119				
SMURF1	57154	broad.mit.edu	37	7	98645380	98645380	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:98645380C>A	uc003upu.1	-	11	1477	c.1157G>T	c.(1156-1158)AGA>ATA	p.R386I	SMURF1_uc003upv.1_Missense_Mutation_p.R360I|SMURF1_uc003upt.2_Missense_Mutation_p.R360I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	386					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTTCGTGTCTGAGGACTTT	0.562		NaN											1	0	1.77791e-30	0.139131	1.96002e-30	70	264				
SMURF1	57154	broad.mit.edu	37	7	98645441	98645441	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:98645441C>A	uc003upu.1	-	11	1416	c.1096G>T	c.(1096-1098)GAC>TAC	p.D366Y	SMURF1_uc003upv.1_Missense_Mutation_p.D340Y|SMURF1_uc003upt.2_Missense_Mutation_p.D340Y	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	366					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			AGCTCCTCGTCCTCCAGAGAG	0.562		NaN											1	0	1.52378e-38	0.139131	1.69355e-38	69	290				
ZKSCAN1	7586	broad.mit.edu	37	7	99621898	99621898	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:99621898C>T	uc003usk.1	+	3	767	c.548C>T	c.(547-549)TCG>TTG	p.S183L	ZKSCAN1_uc003usj.2_Missense_Mutation_p.S182L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S147L|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	183					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCAAACATTCGTCTCGGAAA	0.532		NaN											0	0	0	0.038395	0	17	57				
ACHE	43	broad.mit.edu	37	7	100491073	100491073	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:100491073C>T	uc003uxd.2	-	1	937	c.781G>A	c.(781-783)GGT>AGT	p.G261S	ACHE_uc003uxe.2_Missense_Mutation_p.G261S|ACHE_uc003uxf.2_Missense_Mutation_p.G261S|ACHE_uc003uxg.2_Missense_Mutation_p.G261S|ACHE_uc003uxh.2_Missense_Mutation_p.G261S|ACHE_uc003uxi.2_Missense_Mutation_p.G261S|ACHE_uc003uxj.1_Missense_Mutation_p.G380S	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	261					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TTGGGGGCACCGCTCTGCAGC	0.726		NaN											0	0	0	0.105934	0	14	51				
GPR22	2845	broad.mit.edu	37	7	107114751	107114751	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:107114751G>T	uc003vef.2	+	3	1592	c.246G>T	c.(244-246)ATG>ATT	p.M82I	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	82	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2						TTATTACAATGAATCTTCATG	0.363		NaN											1	0	5.22555e-25	0.139131	5.69934e-25	58	94				
ST7	7982	broad.mit.edu	37	7	116869839	116869839	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:116869839C>G	uc011knn.1	+	14	1371	c.1366C>G	c.(1366-1368)CTT>GTT	p.L456V	ST7_uc003vio.2_Silent_p.P531P|ST7_uc003viq.2_Silent_p.P508P|ST7_uc011knm.1_Silent_p.P511P|ST7_uc003vir.2_Silent_p.P474P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGTTTGCCCCCTTAAACTTTG	0.498		NaN											0	0	0	0.139131	0	89	448				
IMPDH1	3614	broad.mit.edu	37	7	128038653	128038653	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:128038653C>T	uc011kol.1	-	7	740	c.634G>A	c.(634-636)GTC>ATC	p.V212I	IMPDH1_uc011kom.1_Missense_Mutation_p.V207I|IMPDH1_uc003vmt.2_Missense_Mutation_p.V187I|IMPDH1_uc003vmu.2_Missense_Mutation_p.V297I|IMPDH1_uc003vmw.2_Missense_Mutation_p.V287I|IMPDH1_uc011kon.1_Missense_Mutation_p.V264I|IMPDH1_uc003vmv.2_Missense_Mutation_p.V261I|IMPDH1_uc003vmx.2_Missense_Mutation_p.V220I|IMPDH1_uc003vmy.2_Missense_Mutation_p.V228I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	212	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAATCATTGACGATAGGCAGC	0.542		NaN									OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.069234	0	11	158				
TMEM139	135932	broad.mit.edu	37	7	142983872	142983872	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:142983872C>T	uc010lov.2	+	4	740	c.601C>T	c.(601-603)CAC>TAC	p.H201Y	CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.H201Y|TMEM139_uc003wcl.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcm.2_Missense_Mutation_p.H201Y|TMEM139_uc003wcn.2_RNA	NM_153345	NP_699176	Q8IV31	TM139_HUMAN	transmembrane protein 139 precursor	201	Cytoplasmic (Potential).					integral to membrane					0	Melanoma(164;0.059)					CTGCTTTGGTCACCCTGATGA	0.502		NaN											0	0	0	0.139131	0	70	67				
FAM115A	9747	broad.mit.edu	37	7	143573631	143573631	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr7:143573631G>A	uc003wdo.1	-	2	204	c.71C>T	c.(70-72)GCT>GTT	p.A24V	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A24V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	24											0	Melanoma(164;0.0903)					ACATGGAACAGCATCTTCGGG	0.527		NaN											0	0	0	0.009096	0	4	60				
BLK	640	broad.mit.edu	37	8	11405588	11405588	+	Silent	SNP	C	C	A	rs149393791	byFrequency	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:11405588C>A	uc003wty.2	+	4	804	c.223C>A	c.(223-225)CGG>AGG	p.R75R	BLK_uc003wtz.2_Silent_p.R4R	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	75	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TATGAATGATCGGGACCTGCA	0.567		NaN											1	0	5.26018e-13	0.062417	5.63197e-13	21	33				
WRN	7486	broad.mit.edu	37	8	30933803	30933803	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:30933803G>A	uc003xio.3	+	8	1627	c.839G>A	c.(838-840)AGG>AAG	p.R280K		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	280					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACCCACGGAGGTTAAATATT	0.328		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	0.099896	0	28	30				
KCNU1	157855	broad.mit.edu	37	8	36644853	36644853	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:36644853G>A	uc010lvw.2	+	2	312	c.225G>A	c.(223-225)AGG>AGA	p.R75R	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	75	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATCGCTAGGAGCCATGTAA	0.428		NaN											0	0	0	0.038147	0	8	17				
TACC1	6867	broad.mit.edu	37	8	38677879	38677879	+	Nonsense_Mutation	SNP	C	C	T	rs149014810	by1000genomes	TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:38677879C>T	uc010lwp.2	+	3	1496	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*	TACC1_uc011lby.1_Nonsense_Mutation_p.R178*|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Nonsense_Mutation_p.R178*|TACC1_uc003xmc.3_Nonsense_Mutation_p.R178*|TACC1_uc011lbz.1_Nonsense_Mutation_p.R389*|TACC1_uc003xmb.3_Nonsense_Mutation_p.R328*|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Nonsense_Mutation_p.R373*|TACC1_uc011lcb.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcc.1_Nonsense_Mutation_p.R178*|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Nonsense_Mutation_p.R178*|TACC1_uc010lwq.2_Nonsense_Mutation_p.R178*	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	373	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCCAGTGGCACGAGACGGGCC	0.527		NaN											0	0	0	0.050027	0	32	205				
PRKDC	5591	broad.mit.edu	37	8	48740729	48740729	+	Silent	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:48740729C>T	uc003xqi.2	-	63	8634	c.8577G>A	c.(8575-8577)CAG>CAA	p.Q2859Q	PRKDC_uc003xqj.2_Silent_p.Q2859Q|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2859	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGACTTTACCTGAATACAAG	0.383		NaN						NHEJ					0	0	0	0.132662	0	16	11				
EFCAB1	79645	broad.mit.edu	37	8	49637345	49637345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:49637345C>T	uc003xqo.2	-	6	752	c.592G>A	c.(592-594)GAA>AAA	p.E198K	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.E146K|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	198							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				ACTTGAGCTTCAAATTCCATC	0.313		NaN											0	0	0	0.083992	0	24	14				
NSMAF	8439	broad.mit.edu	37	8	59506850	59506850	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:59506850C>G	uc003xtt.2	-	23	2107	c.1893_splice	c.e23-1	p.E631_splice	NSMAF_uc011lee.1_Splice_Site_p.E662_splice	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				AGTAACTGCTCTGCTCAAAAA	0.388		NaN											0	0	0	0.009096	0	4	43				
C8orf34	116328	broad.mit.edu	37	8	69358639	69358639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:69358639C>G	uc010lyz.2	+	3	342	c.293C>G	c.(292-294)TCA>TGA	p.S98*	C8orf34_uc010lyx.1_Nonsense_Mutation_p.S98*|C8orf34_uc010lyy.1_Nonsense_Mutation_p.S98*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.S73*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	98					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTAAAAAATCAAAAAGTGAC	0.328		NaN											0	0	0	0.02938	0	6	77				
ZFHX4	79776	broad.mit.edu	37	8	77764196	77764196	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:77764196C>G	uc003yav.2	+	10	5291	c.4904C>G	c.(4903-4905)TCT>TGT	p.S1635C	ZFHX4_uc003yau.1_Missense_Mutation_p.S1680C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1635C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1635						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATTTAATCTCTGCTCAACCT	0.418		NaN								HNSCC(33;0.089)			0	0	0	0.139131	0	54	31				
FBXO43	286151	broad.mit.edu	37	8	101154324	101154324	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:101154324G>A	uc003yjd.2	-	2	871	c.158C>T	c.(157-159)TCT>TTT	p.S53F	FBXO43_uc003yje.2_Missense_Mutation_p.S19F|FBXO43_uc010mbp.1_Missense_Mutation_p.S53F	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	53					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATTGGAGGAGAGTCCGCCCC	0.423		NaN											0	0	0	0.139131	0	95	39				
TAF2	6873	broad.mit.edu	37	8	120770342	120770342	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:120770342C>T	uc003you.2	-	21	3009	c.2739G>A	c.(2737-2739)ATG>ATA	p.M913I		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	913					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTCTGAATCATATTAAGTA	0.284		NaN											0	0	0	0.043863	0	17	155				
ATAD2	29028	broad.mit.edu	37	8	124371897	124371897	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:124371897C>T	uc003yqh.3	-	10	1294	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K	ATAD2_uc011lii.1_Missense_Mutation_p.E187K|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E396K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTTTTAATTCATCTTTCCGA	0.358		NaN											0	0	0	0.021553	0	6	67				
FAM135B	51059	broad.mit.edu	37	8	139380157	139380157	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:139380157G>C	uc003yuy.2	-	2	241	c.70C>G	c.(70-72)CAG>GAG	p.Q24E	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	24										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCCTCTCTGAAAGAGATCC	0.328		NaN								HNSCC(54;0.14)			0	0	0	0.139131	0	57	34				
MAPK15	225689	broad.mit.edu	37	8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr8:144803252G>C	uc003yzj.2	+	10	1041	c.1000G>C	c.(1000-1002)GAG>CAG	p.E334Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652		NaN											0	0	0	0.014758	0	4	27				
MPDZ	8777	broad.mit.edu	37	9	13119644	13119644	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:13119644C>T	uc010mia.1	-	38	5293	c.5236G>A	c.(5236-5238)GAT>AAT	p.D1746N	MPDZ_uc003zkx.3_Missense_Mutation_p.D11N|MPDZ_uc003zky.3_Missense_Mutation_p.D280N|MPDZ_uc010mib.2_Missense_Mutation_p.D451N|MPDZ_uc010mhx.2_Missense_Mutation_p.D568N|MPDZ_uc011lmm.1_Missense_Mutation_p.D605N|MPDZ_uc003zkz.3_Missense_Mutation_p.D439N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1746N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1713N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1713N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1746N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1746	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCCAGTATCGTTTCTACAC	0.348		NaN											0	0	0	0.047766	0	9	58				
PIGO	84720	broad.mit.edu	37	9	35094274	35094274	+	Silent	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094274G>T	uc003zwd.2	-	3	990	c.594C>A	c.(592-594)TCC>TCA	p.S198S	PIGO_uc003zwc.1_Silent_p.S198S|PIGO_uc003zwe.2_Silent_p.S198S|PIGO_uc003zwf.2_Silent_p.S198S|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	198					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACATTGAAGGATGGGAAGA	0.502		NaN											1	0	6.44725e-10	0.069288	6.81376e-10	12	32				
PIGO	84720	broad.mit.edu	37	9	35094283	35094283	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094283G>T	uc003zwd.2	-	3	981	c.585C>A	c.(583-585)TTC>TTA	p.F195L	PIGO_uc003zwc.1_Missense_Mutation_p.F195L|PIGO_uc003zwe.2_Missense_Mutation_p.F195L|PIGO_uc003zwf.2_Missense_Mutation_p.F195L|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	195					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGATGGGAAGAAGAAAGCTT	0.498		NaN											1	0	4.35082e-09	0.055883	4.56278e-09	10	30				
PIGO	84720	broad.mit.edu	37	9	35094310	35094310	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35094310G>A	uc003zwd.2	-	3	954	c.558C>T	c.(556-558)TTC>TTT	p.F186F	PIGO_uc003zwc.1_Silent_p.F186F|PIGO_uc003zwe.2_Silent_p.F186F|PIGO_uc003zwf.2_Silent_p.F186F|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	186					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGCACCAGGGAAAAGGTCTT	0.502		NaN											0	0	0	0.144211	0	20	31				
CREB3	10488	broad.mit.edu	37	9	35735135	35735135	+	Silent	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:35735135G>C	uc003zxv.2	+	5	918	c.465G>C	c.(463-465)CGG>CGC	p.R155R	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_Silent_p.R74R	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	179	Cytoplasmic (Potential).|Basic motif.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		AACGTGTGCGGAGGAAGATTC	0.348		NaN											0	0	0	0.134883	0	30	28				
RASEF	158158	broad.mit.edu	37	9	85613323	85613323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:85613323C>G	uc004amo.1	-	13	2023	c.1762G>C	c.(1762-1764)GAA>CAA	p.E588Q		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	588					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						ACTGTTCGTTCTCCATCCACA	0.453		NaN											0	0	0	0.139131	0	179	84				
FOXE1	2304	broad.mit.edu	37	9	100617151	100617151	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:100617151G>C	uc004axu.2	+	1	1615	c.955G>C	c.(955-957)GAG>CAG	p.E319Q		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	319					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				TGGCGGCGTGGAGACCACGGT	0.751		NaN											0	0	0	0.069234	0	8	3				
C9orf156	51531	broad.mit.edu	37	9	100667150	100667150	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:100667150G>C	uc004axv.1	-	5	1268	c.1191C>G	c.(1189-1191)TTC>TTG	p.F397L	C9orf156_uc004axw.1_Missense_Mutation_p.F294L|C9orf156_uc004axx.1_Missense_Mutation_p.F251L	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	397					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				CAGTAAAGTAGAAAAGGCGGT	0.527		NaN											0	0	0	0.139131	0	72	76				
OR13C8	138802	broad.mit.edu	37	9	107332253	107332253	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:107332253G>A	uc011lvo.1	+	1	805	c.805G>A	c.(805-807)GAT>AAT	p.D269N		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGCCTCTGTTGATTCAGGTAA	0.453		NaN											0	0	0	0.086207	0	39	85				
EXD3	54932	broad.mit.edu	37	9	140250821	140250821	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr9:140250821C>G	uc004cmp.2	-	8	853	c.657_splice	c.e8-1	p.R219_splice	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Splice_Site|EXD3_uc004cmq.1_Splice_Site|EXD3_uc010ncg.1_Splice_Site_p.R158_splice	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						AGGGTACCGTCTGTGGGGAGA	0.438		NaN											0	0	0	0.021553	0	6	8				
NYX	60506	broad.mit.edu	37	X	41333009	41333009	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:41333009C>G	uc004dfh.2	+	2	733	c.303C>G	c.(301-303)ATC>ATG	p.I101M	NYX_uc011mku.1_Missense_Mutation_p.I96M	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	101	LRR 2.		Missing (in CSNB1A).		response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						TGTCCTTCATCACGCCCGGCG	0.716		NaN											0	0	0	0.115264	0	2	6				
CHST7	56548	broad.mit.edu	37	X	46433799	46433799	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:46433799G>A	uc004dgt.2	+	1	608	c.433G>A	c.(433-435)GAC>AAC	p.D145N		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	145	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						GTATCCGGGCGACGCCGAGAG	0.557		NaN											0	0	0	0.064281	0	33	16				
GNL3L	54552	broad.mit.edu	37	X	54578731	54578731	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:54578731G>C	uc004dth.1	+	13	1327	c.1188G>C	c.(1186-1188)AAG>AAC	p.K396N	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	396					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						GCAGCGGGAAGATCAGCTTCT	0.502		NaN											0	0	0	0.038395	0	18	55				
UPRT	139596	broad.mit.edu	37	X	74494400	74494400	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:74494400G>A	uc004ecb.1	+	1	440	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	UPRT_uc010nlu.1_Missense_Mutation_p.R104Q|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.R104Q|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	104					nucleoside metabolic process	cytoplasm|nucleus					0						GAACTCTCCCGGCAGATCGGG	0.562		NaN											0	0	0	0.009096	0	4	7				
C1GALT1C1	29071	broad.mit.edu	37	X	119760538	119760538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:119760538C>T	uc004esy.2	-	3	831	c.484G>A	c.(484-486)GAT>AAT	p.D162N	C1GALT1C1_uc004esz.2_Missense_Mutation_p.D162N	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	162	Lumenal (Potential).					integral to membrane					0						TGTGATGGATCCTTTTTTAAC	0.383		NaN											0	0	0	0.116897	0	27	46				
MAGEC2	51438	broad.mit.edu	37	X	141291225	141291225	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:141291225C>G	uc004fbu.1	-	3	897	c.549G>C	c.(547-549)AAG>AAC	p.K183N		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	183	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CACGGGCTCTCTTGAGTATCA	0.483		NaN								HNSCC(46;0.14)			0	0	0	0.139131	0	112	73				
TMLHE	55217	broad.mit.edu	37	X	154736681	154736681	+	Silent	SNP	G	G	A			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chrX:154736681G>A	uc004fnn.2	-	6	1039	c.873C>T	c.(871-873)CTC>CTT	p.L291L	TMLHE_uc004fno.2_Silent_p.L291L|TMLHE_uc004fnp.3_Silent_p.L291L	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	291					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTTACTGAGGAGTTCAAATT	0.418		NaN											0	0	0	0.139131	0	90	48				
SCNN1D	6339	broad.mit.edu	37	1	1221398	1221398	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:1221398C>T	uc001adu.1	+	6	783	c.159C>T	c.(157-159)CCC>CCT	p.P53P	SCNN1D_uc001adt.1_Silent_p.P217P|SCNN1D_uc001adw.2_Silent_p.P119P|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.P53P	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGGAGCTGCCCGCCTCGTTCC	0.612		NaN											0	0	0	0.009096	0	3	6				
CASZ1	54897	broad.mit.edu	37	1	10715772	10715772	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:10715772G>A	uc001aro.2	-	9	1919	c.1599C>T	c.(1597-1599)GAC>GAT	p.D533D	CASZ1_uc001arp.1_Silent_p.D533D|CASZ1_uc009vmx.2_Silent_p.D557D	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTGCAGTCGTCCAGCGGGC	0.612		NaN											0	0	0	0.058154	0	10	47				
MAD2L2	10459	broad.mit.edu	37	1	11740482	11740482	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:11740482G>A	uc001asp.2	-	3	275	c.87C>T	c.(85-87)CTC>CTT	p.L29L	MAD2L2_uc009vnc.2_Silent_p.L29L|MAD2L2_uc001asq.3_Silent_p.L29L	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	MAD2 homolog	29	Mediates interaction with REV1 and REV3L and homodimerization.|HORMA.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAGAGGATGAGATGCACAG	0.572		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.139131	0	50	144				
KDM1A	23028	broad.mit.edu	37	1	23408824	23408824	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:23408824A>G	uc001bgi.2	+	18	2487	c.2338A>G	c.(2338-2340)ATC>GTC	p.I780V	KDM1A_uc001bgj.2_Missense_Mutation_p.I804V	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	780	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GGCTCAGCCAATCACTCCTGG	0.527		NaN											0	0	0	0.049695	0	19	51				
MYOM3	127294	broad.mit.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:24419481G>A	uc001bin.3	-	10	1209	c.1046C>T	c.(1045-1047)TCG>TTG	p.S349L	MYOM3_uc001bim.3_Missense_Mutation_p.S6L|MYOM3_uc001bio.2_Missense_Mutation_p.S349L|MYOM3_uc001bip.1_Missense_Mutation_p.S6L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	349	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAAGGGCGAGGGCACCCG	0.458		NaN											0	0	0	0.047766	0	9	28				
ARID1A	8289	broad.mit.edu	37	1	27097694	27097694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:27097694C>T	uc001bmv.1	+	12	3656	c.3283C>T	c.(3283-3285)CAG>TAG	p.Q1095*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q712*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1095	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTGAAAAAGCAGTATATCCA	0.483		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.105934	0	13	74		Valid		
KIAA0319L	79932	broad.mit.edu	37	1	35917362	35917362	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:35917362C>T	uc001byx.2	-	13	2187	c.1929G>A	c.(1927-1929)GTG>GTA	p.V643V	KIAA0319L_uc001byw.2_Silent_p.V85V|KIAA0319L_uc010ohv.1_Silent_p.V285V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	643	PKD 4.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTCGAGCTGCACCCCATCAG	0.507		NaN									OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	71	111				
KIAA0754	643314	broad.mit.edu	37	1	39879235	39879235	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:39879235A>C	uc009vvt.1	+	1	4060	c.3298A>C	c.(3298-3300)ACC>CCC	p.T1100P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	964	7.|Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGAGGA	0.731		NaN											0	0	0	0.02938	0	4	80				
ACOT11	26027	broad.mit.edu	37	1	55072835	55072835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:55072835G>A	uc001cxm.1	+	14	1481	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	ACOT11_uc001cxj.1_Missense_Mutation_p.E345K|ACOT11_uc001cxl.1_Missense_Mutation_p.E467K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	467	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GCAGGTAGACGAGGACGACGC	0.647		NaN											0	0	0	0.047766	0	9	28				
WLS	79971	broad.mit.edu	37	1	68697918	68697918	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:68697918A>T	uc001def.1	-	1	336	c.65T>A	c.(64-66)CTC>CAC	p.L22H	WLS_uc001dee.2_Missense_Mutation_p.L22H|WLS_uc001deg.1_Missense_Mutation_p.L22H|WLS_uc001deh.1_Missense_Mutation_p.L22H	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	22					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						TTGGAACACGAGCAGAATCCC	0.488		NaN											0	0	0	0.049695	0	15	72				
TMEM167B	56900	broad.mit.edu	37	1	109635586	109635586	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:109635586C>T	uc001dwn.2	+	2	177	c.85C>T	c.(85-87)CGT>TGT	p.R29C	TMEM167B_uc009weu.2_Intron	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B precursor	29	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GAAAGTACCTCGTCTCAAAAC	0.453		NaN											0	0	0	0.139131	0	90	297				
GPR61	83873	broad.mit.edu	37	1	110086286	110086287	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086286_110086287CC>TA	uc001dxy.2	+	2	1325_1326	c.642_643CC>TA	c.(640-645)GTCCTT>GTTATT	p.L215I		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	215	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTTGCTGTCCTTTACTTTCT	0.609		NaN											0	0	0	0.115264	0	25	902				
GPR61	83873	broad.mit.edu	37	1	110086421	110086421	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086421C>G	uc001dxy.2	+	2	1460	c.777C>G	c.(775-777)CTC>CTG	p.L259L		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	259	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGAATCTCTCAGCAGCCGCT	0.672		NaN											0	0	0	0.083992	0	24	673				
GPR61	83873	broad.mit.edu	37	1	110086532	110086532	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086532C>T	uc001dxy.2	+	2	1571	c.888C>T	c.(886-888)TTC>TTT	p.F296F		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	296	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGACAGTTCCTGCTCTGTT	0.607		NaN											0	0	0	0.076483	0	24	536				
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086556C>G	uc001dxy.2	+	2	1595	c.912C>G	c.(910-912)TTC>TTG	p.F304L		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577		NaN											0	0	0	0.069288	0	22	705				
GPR61	83873	broad.mit.edu	37	1	110086651	110086651	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086651C>G	uc001dxy.2	+	2	1690	c.1007C>G	c.(1006-1008)TCC>TGC	p.S336C		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	336	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCTTCACTTCCAACCCTTTC	0.532		NaN											0	0	0	0.125774	0	25	742				
GPR61	83873	broad.mit.edu	37	1	110086715	110086715	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086715C>G	uc001dxy.2	+	2	1754	c.1071C>G	c.(1069-1071)GTC>GTG	p.V357V		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAGTTTGTCTGCTTCTTCA	0.562		NaN											0	0	0	0.0333	0	16	498				
GPR61	83873	broad.mit.edu	37	1	110086724	110086724	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086724C>T	uc001dxy.2	+	2	1763	c.1080C>T	c.(1078-1080)TTC>TTT	p.F360F		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	360	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGCTTCTTCAAGCCAGCTC	0.557		NaN											0	0	0	0.146539	0	14	466				
GSTM5	2949	broad.mit.edu	37	1	110255280	110255280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110255280C>G	uc001dyn.2	+	2	148	c.77C>G	c.(76-78)TCA>TGA	p.S26*	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	26	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACACAGACTCAAGCTATGTG	0.607		NaN											0	0	0	0.049695	0	20	690				
KCNA10	3744	broad.mit.edu	37	1	111061247	111061247	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:111061247C>T	uc001dzt.1	-	1	551	c.163G>A	c.(163-165)GAA>AAA	p.E55K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	55						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTGGTGCTTTCGCTGATGAGG	0.582		NaN											0	0	0	0.11911	0	14	79				
ANKRD35	148741	broad.mit.edu	37	1	145561860	145561860	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:145561860G>A	uc001eob.1	+	10	1656	c.1548G>A	c.(1546-1548)CCG>CCA	p.P516P	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.P359P	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	516										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAGACCGGTCATGGAGG	0.627		NaN											0	0	0	0.139131	0	57	201				
ECM1	1893	broad.mit.edu	37	1	150482400	150482400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:150482400C>T	uc001eus.2	+	4	425	c.226C>T	c.(226-228)CAG>TAG	p.Q76*	ECM1_uc010pce.1_Intron|ECM1_uc010pcf.1_Intron|ECM1_uc001eut.2_Nonsense_Mutation_p.Q76*|ECM1_uc001euu.2_Nonsense_Mutation_p.Q105*|ECM1_uc001euv.2_Nonsense_Mutation_p.Q103*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	76					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTATAGTGCAGCCCCCTCC	0.617		NaN											0	0	0	0.080935	0	12	75				
CHRNB2	1141	broad.mit.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:154544295G>A	uc001ffg.2	+	5	1260	c.996G>A	c.(994-996)GCG>GCA	p.A332A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	332	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642		NaN											0	0	0	0.014758	0	5	34				
SH2D2A	9047	broad.mit.edu	37	1	156784028	156784028	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:156784028C>T	uc001fqd.2	-	4	507	c.367G>A	c.(367-369)GAG>AAG	p.E123K	SH2D2A_uc001fqc.1_Missense_Mutation_p.E95K|SH2D2A_uc009wsh.2_Missense_Mutation_p.E133K|SH2D2A_uc001fqe.2_Missense_Mutation_p.E105K|SH2D2A_uc010phs.1_Missense_Mutation_p.E123K|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	123	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGCGCTCTCGCTGAACCGC	0.692		NaN											0	0	0	0.047766	0	7	40				
CD1C	911	broad.mit.edu	37	1	158261130	158261130	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158261130T>A	uc001fru.2	+	2	560	c.268T>A	c.(268-270)TTC>ATC	p.F90I	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	90	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GTTATTTCGTTTCTACCTCTT	0.398		NaN											0	0	0	0.055883	0	21	110				
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158589083G>C	uc001fst.1	-	45	6658	c.6459C>G	c.(6457-6459)GTC>GTG	p.V2153V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2153					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473		NaN											0	0	0	0.02938	0	7	239				
OR6K6	128371	broad.mit.edu	37	1	158725151	158725151	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158725151C>T	uc001fsw.1	+	1	546	c.546C>T	c.(544-546)CTC>CTT	p.L182L		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					GTGGCTTCCTCCTTGTGCTTC	0.478		NaN											0	0	0	0.0918	0	26	144				
FASLG	356	broad.mit.edu	37	1	172628518	172628518	+	Silent	SNP	G	G	A	rs143516344	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:172628518G>A	uc001gis.2	+	1	334	c.177G>A	c.(175-177)CCG>CCA	p.P59P	FASLG_uc001git.2_Silent_p.P59P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	59	Pro-rich.|Poly-Pro.|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						ctccgccgccgccgccaccac	0.333		NaN											0	0	0	0.099896	0	25	13				
ELF3	1999	broad.mit.edu	37	1	201982087	201982087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982087C>G	uc001gxg.3	+	5	3803	c.611C>G	c.(610-612)TCT>TGT	p.S204C	ELF3_uc001gxi.3_Missense_Mutation_p.S204C|ELF3_uc001gxh.3_Missense_Mutation_p.S204C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	204					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						ACTGGTGCTTCTCGGAGCTCC	0.647		NaN											0	0	0	0.069234	0	11	40		Valid		
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982405G>C	uc001gxg.3	+	6	3976	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	ELF3_uc001gxi.3_Missense_Mutation_p.E262Q|ELF3_uc001gxh.3_Missense_Mutation_p.E262Q	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						GGACTGTCTCGAGGGCAAGAA	0.632		NaN											0	0	0	0.083992	0	25	85		Valid		
KLHL12	59349	broad.mit.edu	37	1	202880190	202880190	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880190C>G	uc001gyo.1	-	5	909	c.709G>C	c.(709-711)GAT>CAT	p.D237H	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.D87H|KLHL12_uc010pqc.1_Missense_Mutation_p.D275H|KLHL12_uc009xah.1_Missense_Mutation_p.D237H	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	237					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTCAGCATCTATTACATCT	0.438		NaN											0	0	0	0.139131	0	86	122				
KLHL12	59349	broad.mit.edu	37	1	202880307	202880307	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880307C>G	uc001gyo.1	-	5	792	c.592G>C	c.(592-594)GAG>CAG	p.E198Q	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.E48Q|KLHL12_uc010pqc.1_Missense_Mutation_p.E236Q|KLHL12_uc009xah.1_Missense_Mutation_p.E198Q	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	198				FE -> LG (in Ref. 3; BAD96792).	Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGACAGCCTCAAAGACTGGC	0.473		NaN											0	0	0	0.139131	0	87	132				
PIK3C2B	5287	broad.mit.edu	37	1	204401357	204401357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204401357C>A	uc001haw.2	-	28	4605	c.4126G>T	c.(4126-4128)GAG>TAG	p.E1376*	PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.E1348*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1376	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAGATCTTCTCATGGCGGCAG	0.537		NaN									OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.46703e-50	0.139131	4.17363e-50	103	124				
NFASC	23114	broad.mit.edu	37	1	204956661	204956661	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204956661T>C	uc001hbj.2	+	22	2914	c.2586T>C	c.(2584-2586)TAT>TAC	p.Y862Y	NFASC_uc010pra.1_Silent_p.Y965Y|NFASC_uc001hbi.2_Silent_p.Y965Y|NFASC_uc010prb.1_Silent_p.Y980Y|NFASC_uc010prc.1_Silent_p.Y536Y|NFASC_uc001hbk.1_Silent_p.Y775Y|NFASC_uc001hbl.1_Silent_p.Y112Y|NFASC_uc001hbm.1_Silent_p.Y8Y|NFASC_uc001hbn.1_Silent_p.Y8Y	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	865	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCTCAAATATGTGGCCTGTA	0.488		NaN											0	0	0	0.069288	0	19	138				
DISP1	84976	broad.mit.edu	37	1	223175804	223175804	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:223175804A>G	uc001hnu.1	+	8	1212	c.1065A>G	c.(1063-1065)GGA>GGG	p.G355G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GGACACTGGGAAACTACATCG	0.502		NaN									OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.038147	0	7	174				
CELF2	10659	broad.mit.edu	37	10	11207533	11207533	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:11207533G>A	uc001iki.3	+	2	230	c.138G>A	c.(136-138)CAG>CAA	p.Q46Q	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Silent_p.Q46Q|CELF2_uc001ikk.2_Silent_p.Q53Q|CELF2_uc001ikl.3_Silent_p.Q53Q|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Silent_p.Q22Q|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Silent_p.Q22Q|CELF2_uc001ikp.3_Silent_p.Q22Q|CELF2_uc010qbn.1_Silent_p.Q30Q|CELF2_uc009xiw.1_Silent_p.Q22Q|CELF2_uc010qbo.1_5'UTR|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	46	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TTGTCGGACAGATCCCCCGGT	0.522		NaN											0	0	0	0.099896	0	27	91				
PDSS1	23590	broad.mit.edu	37	10	26998684	26998684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:26998684C>T	uc001isv.2	+	5	500	c.454C>T	c.(454-456)CAT>TAT	p.H152Y	PDSS1_uc001isw.2_Missense_Mutation_p.H152Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	152					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						CAATATTCATCATAACAACTC	0.393		NaN											0	0	0	0.134883	0	27	112				
ANKRD30A	91074	broad.mit.edu	37	10	37506789	37506789	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:37506789G>C	uc001iza.1	+	33	3181	c.3082G>C	c.(3082-3084)GAA>CAA	p.E1028Q		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1084	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAGAGTGTAGAAAGTAATTT	0.284		NaN											0	0	0	0.047766	0	8	30				
OGDHL	55753	broad.mit.edu	37	10	50947854	50947854	+	Silent	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:50947854G>T	uc001jie.2	-	17	2314	c.2172C>A	c.(2170-2172)CCC>CCA	p.P724P	OGDHL_uc009xog.2_Silent_p.P751P|OGDHL_uc010qgt.1_Silent_p.P667P|OGDHL_uc010qgu.1_Silent_p.P515P	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	724					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CCAGGGCATTGGGGCTGGCCA	0.572		NaN											1	0	4.3838e-07	0.105934	5.05735e-07	14	27				
CTNNA3	29119	broad.mit.edu	37	10	69281696	69281696	+	Silent	SNP	G	G	C	rs74142830	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:69281696G>C	uc009xpn.1	-	5	606	c.483C>G	c.(481-483)CTC>CTG	p.L161L	CTNNA3_uc001jmw.2_Silent_p.L161L|CTNNA3_uc001jmx.3_Silent_p.L161L|CTNNA3_uc009xpo.1_Silent_p.L21L|CTNNA3_uc001jna.2_Silent_p.L173L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	161					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CAACATTTTTGAGAGACTCAA	0.383		NaN											0	0	0	0.115264	0	3	76				
HK1	3098	broad.mit.edu	37	10	71144659	71144659	+	Silent	SNP	G	G	A	rs148999865		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:71144659G>A	uc001jpl.3	+	12	1928	c.1827G>A	c.(1825-1827)ACG>ACA	p.T609T	HK1_uc001jpg.3_Silent_p.T597T|HK1_uc001jph.3_Silent_p.T613T|HK1_uc001jpi.3_Silent_p.T613T|HK1_uc001jpj.3_Silent_p.T644T|HK1_uc001jpk.3_Silent_p.T608T|HK1_uc009xqd.2_Silent_p.T487T	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	609	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GCCAGCAGACGAGTCTGGACG	0.587		NaN											0	0	0	0.047766	0	9	173				
DNAJB12	54788	broad.mit.edu	37	10	74100797	74100797	+	Missense_Mutation	SNP	C	C	T	rs147227290		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:74100797C>T	uc010qjv.1	-	4	841	c.691G>A	c.(691-693)GAC>AAC	p.D231N	DNAJB12_uc001jsz.2_Missense_Mutation_p.D231N|DNAJB12_uc001jta.2_Missense_Mutation_p.D231N	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	197					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GGGGAGATGTCGGCCTCAAAG	0.607		NaN											0	0	0	0.047766	0	9	36				
USP54	159195	broad.mit.edu	37	10	75301468	75301468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:75301468G>A	uc001juo.2	-	6	618	c.601C>T	c.(601-603)CGA>TGA	p.R201*	USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Nonsense_Mutation_p.R201*|USP54_uc010qkl.1_Nonsense_Mutation_p.R201*|USP54_uc001juq.1_Translation_Start_Site	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	201					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GGTTTCTCTCGTCTTTCCAGC	0.453		NaN											0	0	0	0.0333	0	16	53				
COMTD1	118881	broad.mit.edu	37	10	76993969	76993969	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:76993969C>T	uc001jxb.2	-	7	735	c.651G>A	c.(649-651)GGG>GGA	p.G217G	COMTD1_uc001jxc.1_Missense_Mutation_p.E309K	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing	217						integral to membrane	O-methyltransferase activity				0	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCAGCACCTTCCCGCGCCACA	0.706		NaN											0	0	0	0.021553	0	5	46				
PLCE1	51196	broad.mit.edu	37	10	96018855	96018855	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:96018855C>G	uc001kjk.2	+	13	4396	c.3762C>G	c.(3760-3762)CTC>CTG	p.L1254L	PLCE1_uc010qnx.1_Silent_p.L1238L|PLCE1_uc001kjm.2_Silent_p.L946L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1254					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CAGCCCCACTCTACACCAACC	0.478		NaN											0	0	0	0.09836	0	36	132				
DNTT	1791	broad.mit.edu	37	10	98064410	98064410	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:98064410C>T	uc001kmf.2	+	1	326	c.156C>T	c.(154-156)CTC>CTT	p.L52L	DNTT_uc001kmg.2_Silent_p.L52L	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	52	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGCGTTCCTCATGGAGCTGG	0.493		NaN											0	0	0	0.047766	0	8	35				
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:102738085G>C	uc010qpt.1	+	6	912	c.469G>C	c.(469-471)GAG>CAG	p.E157Q	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.E157Q|SEMA4G_uc001krx.2_Missense_Mutation_p.E157Q|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	157	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532		NaN											0	0	0	0.021553	0	6	20				
PDCD4	27250	broad.mit.edu	37	10	112641289	112641289	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:112641289G>C	uc001kzh.2	+	3	585	c.342G>C	c.(340-342)AAG>AAC	p.K114N	PDCD4_uc001kzg.2_Missense_Mutation_p.K103N|PDCD4_uc010qre.1_Missense_Mutation_p.K100N	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	114					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GACTACCAAAGAAAGGTTGGT	0.433		NaN											0	0	0	0.049695	0	19	91				
MKI67	4288	broad.mit.edu	37	10	129904961	129904961	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904961C>T	uc001lke.2	-	13	5338	c.5143G>A	c.(5143-5145)GAG>AAG	p.E1715K	MKI67_uc001lkf.2_Missense_Mutation_p.E1355K|MKI67_uc009yav.1_Missense_Mutation_p.E1290K|MKI67_uc009yaw.1_Missense_Mutation_p.E865K	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1715	6.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGAAGAGCTCGATGAAGCCG	0.498		NaN											0	0	0	0.0333	0	15	58				
MKI67	4288	broad.mit.edu	37	10	129904991	129904991	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904991C>T	uc001lke.2	-	13	5308	c.5113G>A	c.(5113-5115)GAA>AAA	p.E1705K	MKI67_uc001lkf.2_Missense_Mutation_p.E1345K|MKI67_uc009yav.1_Missense_Mutation_p.E1280K|MKI67_uc009yaw.1_Missense_Mutation_p.E855K	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1705	6.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGGGACTTCAGACTTTCCC	0.468		NaN											0	0	0	0.11911	0	14	64				
C10orf93	255352	broad.mit.edu	37	10	134752189	134752189	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:134752189C>G	uc001llt.1	-	5	516	c.440G>C	c.(439-441)GGA>GCA	p.G147A	C10orf93_uc001llu.2_Missense_Mutation_p.G147A	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	147							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		GTGACGATATCCAGGCTTGAG	0.537		NaN											0	0	0	0.043863	0	18	100				
TRIM5	85363	broad.mit.edu	37	11	5687293	5687293	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:5687293C>G	uc001mbm.1	-	6	1043	c.786G>C	c.(784-786)TTG>TTC	p.L262F	TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L262F|TRIM5_uc001mbo.2_Missense_Mutation_p.L262F|TRIM5_uc001mbp.2_Missense_Mutation_p.L262F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	262					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGGCTTCTTCAAGGTCACGT	0.398		NaN											0	0	0	0.132662	0	15	41				
CCKBR	887	broad.mit.edu	37	11	6292495	6292495	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:6292495C>T	uc001mcp.2	+	5	1259	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C	CCKBR_uc001mcq.2_Missense_Mutation_p.R284C|CCKBR_uc001mcr.2_Missense_Mutation_p.R356C|CCKBR_uc001mcs.2_Missense_Mutation_p.R425C|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	356	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACACGTGGCGCGCCTTTGA	0.567		NaN											0	0	0	0.146539	0	16	58				
MICAL2	9645	broad.mit.edu	37	11	12248632	12248632	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:12248632C>G	uc001mjz.2	+	15	2237	c.1949C>G	c.(1948-1950)TCT>TGT	p.S650C	MICAL2_uc010rch.1_Missense_Mutation_p.S650C|MICAL2_uc001mka.2_Missense_Mutation_p.S650C|MICAL2_uc010rci.1_Missense_Mutation_p.S650C|MICAL2_uc001mkb.2_Missense_Mutation_p.S650C|MICAL2_uc001mkc.2_Missense_Mutation_p.S650C|MICAL2_uc001mkd.2_Missense_Mutation_p.S479C|MICAL2_uc010rcj.1_Missense_Mutation_p.S52C	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	650						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCATCCATTTCTAATAACTAT	0.448		NaN											0	0	0	0.047766	0	5	27				
C11orf41	25758	broad.mit.edu	37	11	33631370	33631370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:33631370G>T	uc001mup.3	+	14	4388	c.4264G>T	c.(4264-4266)GGA>TGA	p.G1422*		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1416						integral to membrane				ovary(2)	2						CAAGAGGAAGGGATATTACGA	0.517		NaN											1	0	2.17888e-05	0.058154	2.49417e-05	9	18				
CHST1	8534	broad.mit.edu	37	11	45671793	45671793	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:45671793G>C	uc001mys.1	-	4	1352	c.681C>G	c.(679-681)CTC>CTG	p.L227L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	227	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGACCTTGAGGTTTAATC	0.687		NaN											0	0	0	0.043863	0	19	26				
OR4X2	119764	broad.mit.edu	37	11	48267481	48267481	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48267481C>T	uc001ngs.1	+	1	826	c.826C>T	c.(826-828)CCT>TCT	p.P276S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATCCTGAACCCTGTCATCTA	0.483		NaN											0	0	0	0.0333	0	16	28				
OR4S1	256148	broad.mit.edu	37	11	48328337	48328337	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48328337C>T	uc010rhu.1	+	1	563	c.563C>T	c.(562-564)GCA>GTA	p.A188V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTGGCCTGTGCAGACACCTAC	0.463		NaN											0	0	0	0.045705	0	32	23				
SERPING1	710	broad.mit.edu	37	11	57379282	57379282	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:57379282C>T	uc001nkp.1	+	7	1313	c.1122C>T	c.(1120-1122)CTC>CTT	p.L374L	SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Silent_p.L322L|SERPING1_uc010rjv.1_Silent_p.L379L|SERPING1_uc001nkr.1_Silent_p.L374L|SERPING1_uc009ymi.1_Silent_p.L383L|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Silent_p.L65L	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	374				MEQALS -> TGTGSQ (in Ref. 19; AA sequence).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						AACAGGCTCTCAGCCCTTCTG	0.522		NaN							Hereditary_Angioedema				0	0	0	0.139131	0	78	121				
STIP1	10963	broad.mit.edu	37	11	63971071	63971071	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:63971071G>A	uc001nyk.1	+	13	1683	c.1536G>A	c.(1534-1536)CAG>CAA	p.Q512Q	STIP1_uc010rnb.1_Silent_p.Q488Q	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	512	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						AACAGATGCAGAAGGACCCCC	0.597		NaN											0	0	0	0.069234	0	10	43				
KAT5	10524	broad.mit.edu	37	11	65481068	65481068	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:65481068G>A	uc001ofi.2	+	6	696	c.446G>A	c.(445-447)CGG>CAG	p.R149Q	KAT5_uc001ofj.2_Missense_Mutation_p.R97Q|KAT5_uc001ofk.2_Missense_Mutation_p.R182Q|KAT5_uc010roo.1_Missense_Mutation_p.R130Q|KAT5_uc001ofl.2_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	149					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						CTGCAGAAACGGAAGGTGGAG	0.547		NaN											0	0	0	0.076483	0	24	81				
CD248	57124	broad.mit.edu	37	11	66083095	66083095	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66083095C>T	uc001ohm.1	-	1	1421	c.1404G>A	c.(1402-1404)GTG>GTA	p.V468V		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	468	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGGCAGGGATCACAGGAGGCT	0.622		NaN											0	0	0	0.080422	0	34	125				
SPTBN2	6712	broad.mit.edu	37	11	66473242	66473242	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66473242C>T	uc001ojd.2	-	13	1792	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	574	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCCACCAGCTCGTGCAGCTGC	0.667		NaN											0	0	0	0.069234	0	11	29				
PPFIA1	8500	broad.mit.edu	37	11	70194497	70194497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:70194497G>T	uc001opo.2	+	16	2332	c.2134G>T	c.(2134-2136)GAA>TAA	p.E712*	PPFIA1_uc001opn.1_Nonsense_Mutation_p.E712*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	712					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCCAGCTCGGGAAGTGGACAG	0.602		NaN											1	0	2.73361e-28	0.139131	3.26413e-28	64	163				
INTS4	92105	broad.mit.edu	37	11	77629999	77629999	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:77629999G>C	uc001oys.2	-	15	1818	c.1790C>G	c.(1789-1791)TCA>TGA	p.S597*	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	597					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAAACAGCTGATGACACCAG	0.458		NaN											0	0	0	0.099896	0	24	158				
MTMR2	8898	broad.mit.edu	37	11	95591730	95591730	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:95591730G>C	uc001pfu.2	-	6	788	c.535C>G	c.(535-537)CTA>GTA	p.L179V	MTMR2_uc001pfv.2_Missense_Mutation_p.L107V|MTMR2_uc001pfs.2_Missense_Mutation_p.L107V|MTMR2_uc001pft.2_Missense_Mutation_p.L107V|MTMR2_uc010ruj.1_Missense_Mutation_p.L162V	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	179						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCATTAGATTCTCAAAT	0.318		NaN											0	0	0	0.139131	0	40	160				
PHB2	11331	broad.mit.edu	37	12	7076925	7076925	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7076925G>A	uc001qsd.2	-	6	835	c.625C>T	c.(625-627)CGG>TGG	p.R209W	PHB2_uc010sft.1_Intron|PHB2_uc010sfu.1_3'UTR|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	209	Potential.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						AATTGGGCCCGCTGGGCCTCC	0.587		NaN											0	0	0	0.139131	0	53	193				
GDF3	9573	broad.mit.edu	37	12	7842947	7842947	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7842947C>G	uc001qte.2	-	2	658	c.622G>C	c.(622-624)GAA>CAA	p.E208Q		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	208					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCTCTATCTTCTTTGACCAGT	0.493		NaN											0	0	0	0.062417	0	23	49				
FOXJ2	55810	broad.mit.edu	37	12	8205417	8205417	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:8205417G>C	uc001qtu.2	+	11	2781	c.1696G>C	c.(1696-1698)GAT>CAT	p.D566H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	566					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GGAGATCCCTGATGACTTCGA	0.532		NaN											0	0	0	0.009096	0	4	11				
KIAA1467	57613	broad.mit.edu	37	12	13208508	13208508	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:13208508G>A	uc001rbi.2	+	2	84	c.61G>A	c.(61-63)GAG>AAG	p.E21K	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	21						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACCTAGGGGAGTATGATCC	0.473		NaN											0	0	0	0.0333	0	16	45				
RERG	85004	broad.mit.edu	37	12	15262116	15262116	+	Silent	SNP	C	C	T	rs147938337	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15262116C>T	uc001rcs.2	-	4	668	c.528G>A	c.(526-528)AAG>AAA	p.K176K	RERG_uc001rct.2_Silent_p.K176K|RERG_uc010shu.1_Silent_p.K157K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	176					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1						GTCGCCTCGTCTTGCCCTGCA	0.522		NaN											0	0	0	0.069456	0	37	86				
PTPRO	5800	broad.mit.edu	37	12	15733754	15733754	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15733754G>C	uc001rcv.1	+	22	3295	c.3121G>C	c.(3121-3123)GAG>CAG	p.E1041Q	PTPRO_uc001rcw.1_Missense_Mutation_p.E1013Q|PTPRO_uc001rcx.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcy.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcz.1_Missense_Mutation_p.E202Q|PTPRO_uc001rda.1_Missense_Mutation_p.E202Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1041	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TCAGTGTAATGAGAAAAGGAG	0.448		NaN											0	0	0	0.11911	0	13	54				
SLCO1B1	10599	broad.mit.edu	37	12	21358897	21358897	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:21358897A>G	uc001req.3	+	11	1531	c.1427A>G	c.(1426-1428)AAC>AGC	p.N476S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	476	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTCTGTGGAAACAATGGAATA	0.383		NaN											0	0	0	0.11911	0	15	49				
CNTN1	1272	broad.mit.edu	37	12	41337481	41337481	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:41337481A>T	uc001rmm.1	+	13	1575	c.1462A>T	c.(1462-1464)AAT>TAT	p.N488Y	CNTN1_uc009zjy.1_Missense_Mutation_p.N488Y|CNTN1_uc001rmn.1_Missense_Mutation_p.N477Y|CNTN1_uc001rmo.2_Missense_Mutation_p.N488Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	488	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTGCAGAAAATAACAGAGG	0.333		NaN											0	0	0	0.02938	0	6	30				
SLC38A1	81539	broad.mit.edu	37	12	46598164	46598164	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:46598164G>C	uc001rpa.2	-	11	1000	c.742C>G	c.(742-744)CCA>GCA	p.P248A	SLC38A1_uc001rpb.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpc.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpd.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpe.2_Missense_Mutation_p.P248A|SLC38A1_uc010slh.1_Missense_Mutation_p.P221A|SLC38A1_uc009zkj.1_Missense_Mutation_p.P248A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	248	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTAGCTCTGGAACAATGCAG	0.323		NaN											0	0	0	0.116897	0	29	140				
VDR	7421	broad.mit.edu	37	12	48240460	48240460	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:48240460C>T	uc001rqm.2	-	9	1169	c.887G>A	c.(886-888)CGC>CAC	p.R296H	VDR_uc001rql.2_Missense_Mutation_p.R346H|VDR_uc001rqn.2_Missense_Mutation_p.R296H|VDR_uc010slq.1_Missense_Mutation_p.R264H	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	296	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCACTGACGCGGTACTTGTA	0.542		NaN											0	0	0	0.108266	0	28	33				
MLL2	8085	broad.mit.edu	37	12	49434818	49434818	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:49434818G>C	uc001rta.3	-	31	6735	c.6735C>G	c.(6733-6735)CTC>CTG	p.L2245L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2245	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCGGGGTTTGAGGAATGGGT	0.657		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.043863	0	18	52				
KRT6B	3854	broad.mit.edu	37	12	52845415	52845415	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:52845415G>C	uc001sak.2	-	1	496	c.448C>G	c.(448-450)CTG>GTG	p.L150V		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	150	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAATTTGCAGGTTGAGGGGA	0.612		NaN											0	0	0	0.049695	0	17	122				
KRT73	319101	broad.mit.edu	37	12	53004528	53004528	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:53004528C>T	uc001sas.2	-	7	1237	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	401	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCAGGGCGCCCTCCAGCTC	0.637		NaN											0	0	0	0.11911	0	13	69				
ITGA5	3678	broad.mit.edu	37	12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:54799103G>A	uc001sga.2	-	12	1140	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	358	Extracellular (Potential).|FG-GAP 5.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						TCCTGAGGCCGCCCGTCAGGG	0.647		NaN											0	0	0	0.021553	0	6	26				
OR6C65	403282	broad.mit.edu	37	12	55794819	55794819	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:55794819C>A	uc010spl.1	+	1	507	c.507C>A	c.(505-507)TCC>TCA	p.S169S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTGTGACTCCAGCACTATTG	0.438		NaN											1	0	8.06951e-73	0.139131	9.7672e-73	145	195				
BAZ2A	11176	broad.mit.edu	37	12	56998908	56998908	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:56998908G>A	uc001slq.1	-	14	2897	c.2703C>T	c.(2701-2703)GTC>GTT	p.V901V	BAZ2A_uc001slp.1_Silent_p.V899V|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.V869V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	901	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TCAGCAGCCTGACCAGCAGGT	0.557		NaN											0	0	0	0.058154	0	9	55				
BEST3	144453	broad.mit.edu	37	12	70066697	70066697	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70066697C>G	uc001svg.2	-	8	1143	c.916G>C	c.(916-918)GAA>CAA	p.E306Q	BEST3_uc001svd.1_Missense_Mutation_p.E306Q|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.E93Q|BEST3_uc010stm.1_Missense_Mutation_p.E200Q|BEST3_uc001svh.2_Missense_Mutation_p.E93Q	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	306	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTTAGTTTCAAAATCATCA	0.274		NaN											0	0	0	0.080935	0	10	39				
PTPRB	5787	broad.mit.edu	37	12	70938355	70938355	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70938355G>A	uc001swb.3	-	20	4852	c.4822C>T	c.(4822-4824)CCC>TCC	p.P1608S	PTPRB_uc010sto.1_Missense_Mutation_p.P1518S|PTPRB_uc010stp.1_Missense_Mutation_p.P1518S|PTPRB_uc001swc.3_Missense_Mutation_p.P1826S|PTPRB_uc001swa.3_Missense_Mutation_p.P1738S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1608	Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTAGTGATGGGTAAAGAAAAA	0.408		NaN											0	0	0	0.09319	0	12	15				
LGR5	8549	broad.mit.edu	37	12	71977759	71977759	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:71977759C>G	uc001swl.2	+	18	2017	c.1969C>G	c.(1969-1971)CTG>GTG	p.L657V	LGR5_uc001swm.2_Missense_Mutation_p.L633V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	657	Helical; Name=3; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CCTGCTTACTCTGGCAGCCCT	0.448		NaN											0	0	0	0.108266	0	27	95				
PAH	5053	broad.mit.edu	37	12	103246654	103246654	+	Nonsense_Mutation	SNP	G	G	A	rs5030850		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:103246654G>A	uc001tjq.1	-	8	1253	c.781C>T	c.(781-783)CGA>TGA	p.R261*		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	261			R -> P (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGAAGACTCGGAAGGCCAGG	0.542		NaN											0	0	0	0.021553	0	5	82				
IFT81	28981	broad.mit.edu	37	12	110581342	110581342	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:110581342G>C	uc001tqi.2	+	9	1067	c.937G>C	c.(937-939)GAA>CAA	p.E313Q	IFT81_uc001tqh.2_Missense_Mutation_p.E313Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.E313Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	313	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TCTTGAACTTGAATCTAAAGT	0.308		NaN											0	0	0	0.083992	0	22	115				
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:117662862C>T	uc001twm.1	-	25	4471	c.3785G>A	c.(3784-3786)CGA>CAA	p.R1262Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1262	NADP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGAAGCTTCGGAAAGGGGC	0.617		NaN											0	0	0	0.11126	0	42	160				
ZCCHC8	55596	broad.mit.edu	37	12	122958378	122958378	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:122958378G>A	uc001ucn.2	-	14	1921	c.1790C>T	c.(1789-1791)TCC>TTC	p.S597F	ZCCHC8_uc001ucl.2_Missense_Mutation_p.S208F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.S359F	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	597						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGGACTGGAGGCATGTCC	0.488		NaN											0	0	0	0.139131	0	52	201				
ATP6V0A2	23545	broad.mit.edu	37	12	124236904	124236904	+	Silent	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:124236904A>T	uc001ufr.2	+	17	2378	c.2130A>T	c.(2128-2130)GGA>GGT	p.G710G		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	710	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGAAGAGGGAAATCACCAGG	0.398		NaN											0	0	0	0.09319	0	12	48				
POLE	5426	broad.mit.edu	37	12	133210898	133210898	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:133210898C>G	uc001uks.1	-	43	5922	c.5878G>C	c.(5878-5880)GAT>CAT	p.D1960H	POLE_uc001ukq.1_Missense_Mutation_p.D170H|POLE_uc001ukr.1_Missense_Mutation_p.D764H|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1960					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		tcctccccatctctttcctcc	0.333		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.038395	0	17	62				
RNF6	6049	broad.mit.edu	37	13	26793668	26793668	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:26793668T>C	uc001uqo.2	-	3	410	c.119A>G	c.(118-120)TAT>TGT	p.Y40C	RNF6_uc001uqn.1_Missense_Mutation_p.Y40C|RNF6_uc010aak.2_Missense_Mutation_p.Y40C|RNF6_uc001uqp.2_Missense_Mutation_p.Y40C|RNF6_uc001uqq.2_Missense_Mutation_p.Y40C|RNF6_uc010tdk.1_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	40					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTGATAATAGGCCTCTTC	0.408		NaN											0	0	0	0.116897	0	29	67				
SLC46A3	283537	broad.mit.edu	37	13	29287107	29287107	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:29287107C>T	uc001usi.2	-	2	1740	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	SLC46A3_uc001usg.2_Missense_Mutation_p.R182Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R257Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R257Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R182Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	257	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GAGCAAAAATCGTCTCTTACC	0.338		NaN											0	0	0	0.047766	0	9	27				
DGKH	160851	broad.mit.edu	37	13	42623082	42623082	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:42623082C>G	uc001uyl.1	+	1	194	c.173C>G	c.(172-174)TCG>TGG	p.S58W	DGKH_uc010tfh.1_Missense_Mutation_p.S58W|DGKH_uc001uym.1_Missense_Mutation_p.S58W	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	58					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGTCTACCTCGGGGCAGATC	0.398		NaN											0	0	0	0.115264	0	2	6				
PCDH20	64881	broad.mit.edu	37	13	61987145	61987145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:61987145C>T	uc001vid.3	-	2	1451	c.1087G>A	c.(1087-1089)GTT>ATT	p.V363I	PCDH20_uc010thj.1_Missense_Mutation_p.V363I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	336	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCTTGTGGAACTTTCTGACTG	0.433		NaN											0	0	0	0.144211	0	31	76				
LMO7	4008	broad.mit.edu	37	13	76427499	76427499	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:76427499C>A	uc001vjv.2	+	25	4697	c.3937C>A	c.(3937-3939)CAG>AAG	p.Q1313K	LMO7_uc010thv.1_Missense_Mutation_p.Q1264K|LMO7_uc010thw.1_Missense_Mutation_p.Q1190K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1598						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGCTTCACAGTCAGGCTC	0.542		NaN											1	0	7.03913e-09	0.09319	8.16318e-09	11	37				
MYCBP2	23077	broad.mit.edu	37	13	77825302	77825302	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:77825302C>T	uc001vkf.2	-	16	2342	c.2251G>A	c.(2251-2253)GAC>AAC	p.D751N	MYCBP2_uc010aev.2_Missense_Mutation_p.D155N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	751	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGACTCTGTCTGGCCGTCCA	0.468		NaN											0	0	0	0.0333	0	15	42				
OR11H12	440153	broad.mit.edu	37	14	19377844	19377844	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:19377844T>C	uc010tkp.1	+	1	251	c.251T>C	c.(250-252)TTA>TCA	p.L84S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCCTTTTTAGAGATATGG	0.418		NaN											0	0	0	0.139131	0	67	120				
DDHD1	80821	broad.mit.edu	37	14	53539349	53539349	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:53539349A>C	uc001xai.2	-	6	1699	c.1469T>G	c.(1468-1470)ATA>AGA	p.I490R	DDHD1_uc001xaj.2_Missense_Mutation_p.I497R|DDHD1_uc001xah.2_Missense_Mutation_p.I490R|DDHD1_uc001xag.2_Missense_Mutation_p.I72R	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	490					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					ATAATACATTATGTCCATTGC	0.338		NaN											0	0	0	0.0333	0	17	52				
SAMD4A	23034	broad.mit.edu	37	14	55203778	55203778	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:55203778G>C	uc001xbb.2	+	3	750	c.749G>C	c.(748-750)CGA>CCA	p.R250P	SAMD4A_uc001xbc.2_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	251					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						CCTTTGAAACGATCTGTGTCC	0.502		NaN											0	0	0	0.139131	0	69	135				
EIF2B2	8892	broad.mit.edu	37	14	75469786	75469786	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:75469786C>T	uc001xrc.1	+	1	175	c.93C>T	c.(91-93)TCC>TCT	p.S31S		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	31					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CGCGCAGCTCCGAGGAAATGG	0.667		NaN											0	0	0	0.043863	0	19	39				
C14orf148	122945	broad.mit.edu	37	14	77861083	77861083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:77861083G>C	uc001xtr.2	-	6	1118	c.971C>G	c.(970-972)TCA>TGA	p.S324*		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	324					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGACTACTTGAGAGATGCTG	0.443		NaN											0	0	0	0.132662	0	14	60				
GALC	2581	broad.mit.edu	37	14	88411957	88411957	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:88411957C>T	uc001xvt.2	-	14	2009	c.1610G>A	c.(1609-1611)AGA>AAA	p.R537K	GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.R511K|GALC_uc010tvy.1_Missense_Mutation_p.R514K|GALC_uc010tvz.1_Missense_Mutation_p.R481K	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	537					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TGTAATGGGTCTCTGGTTGAG	0.428		NaN											0	0	0	0.139131	0	45	93				
MOAP1	64112	broad.mit.edu	37	14	93649993	93649993	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:93649993C>A	uc001ybj.2	-	3	965	c.595G>T	c.(595-597)GAT>TAT	p.D199Y	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	199					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttctctacatctggcacctgc	0		NaN											1	0	1.5548e-18	0.108266	1.85155e-18	28	103				
PPP4R4	57718	broad.mit.edu	37	14	94732160	94732160	+	Missense_Mutation	SNP	C	C	G	rs147765941		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:94732160C>G	uc001ycs.1	+	22	2468	c.2314C>G	c.(2314-2316)CGA>GGA	p.R772G		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	772						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						CAAACTGATTCGAAGCCAGTC	0.368		NaN											0	0	0	0.080935	0	12	111				
DICER1	23405	broad.mit.edu	37	14	95562205	95562205	+	Silent	SNP	G	G	A	rs145027662	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:95562205G>A	uc001ydw.2	-	24	5234	c.5052C>T	c.(5050-5052)CTC>CTT	p.L1684L	DICER1_uc010avh.1_Silent_p.L582L|DICER1_uc001ydv.2_Silent_p.L1674L|DICER1_uc001ydx.2_Silent_p.L1684L|DICER1_uc001ydy.1_Silent_p.L536L	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1684	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAAAAGCCTGGAGAAGGTAAG	0.393		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.045705	0	31	45				
C14orf68	283600	broad.mit.edu	37	14	100793638	100793638	+	Silent	SNP	C	C	T	rs147080547		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:100793638C>T	uc001yhc.2	+	4	331	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	C14orf68_uc001yhd.2_Translation_Start_Site	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	86					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGCTCCGGTACGGCAACCCTG	0.687		NaN											0	0	0	0.047766	0	7	122				
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:38643647G>A	uc001zka.3	+	7	1452	c.1117G>A	c.(1117-1119)GAG>AAG	p.E373K		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	373	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423		NaN							Legius_syndrome				0	0	0	0.086207	0	42	104				
DISP2	85455	broad.mit.edu	37	15	40659556	40659556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:40659556C>G	uc001zlk.1	+	8	1332	c.1243C>G	c.(1243-1245)CTG>GTG	p.L415V		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	415					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGCACTTTCTGCTTGACAG	0.587		NaN											0	0	0	0.139131	0	86	276				
ONECUT1	3175	broad.mit.edu	37	15	53081070	53081070	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:53081070T>C	uc002aci.1	-	1	1140	c.1012A>G	c.(1012-1014)AGC>GGC	p.S338G		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	338	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTGAGTTTGCTCCAGGGTTTG	0.652		NaN											0	0	0	0.062417	0	19	44				
ZNF280D	54816	broad.mit.edu	37	15	56950642	56950642	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:56950642C>T	uc002adu.2	-	17	2254	c.2037G>A	c.(2035-2037)AAG>AAA	p.K679K	ZNF280D_uc002adv.2_Silent_p.K666K|ZNF280D_uc010bfq.2_Silent_p.K679K|ZNF280D_uc002adw.1_Silent_p.K707K|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAATGCTTCTTAAAAATAC	0.229		NaN											0	0	0	0.02938	0	5	38				
FAM96A	84191	broad.mit.edu	37	15	64380955	64380955	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64380955C>T	uc002amt.1	-	2	460	c.220G>A	c.(220-222)GAA>AAA	p.E74K	FAM96A_uc002amu.1_Missense_Mutation_p.E74K|FAM96A_uc010uin.1_Missense_Mutation_p.E74K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	74					chromosome segregation						0						TATTCTTCTTCATTTATCTCC	0.378		NaN											0	0	0	0.047766	0	8	45				
FAM96A	84191	broad.mit.edu	37	15	64381003	64381003	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64381003C>T	uc002amt.1	-	2	412	c.172G>A	c.(172-174)GAA>AAA	p.E58K	FAM96A_uc002amu.1_Missense_Mutation_p.E58K|FAM96A_uc010uin.1_Missense_Mutation_p.E58K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	58					chromosome segregation						0						ACTTCCAGTTCTTCTAAAGTA	0.363		NaN											0	0	0	0.105934	0	11	59				
IQCH	64799	broad.mit.edu	37	15	67649729	67649729	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:67649729G>C	uc002aqo.1	+	7	731	c.684G>C	c.(682-684)GTG>GTC	p.V228V	IQCH_uc010ujv.1_Silent_p.V60V|IQCH_uc002aqn.1_Silent_p.V55V|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	228										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CAGCAGAAGTGAAGTTCTTTC	0.383		NaN											0	0	0	0.080935	0	10	44				
NOX5	79400	broad.mit.edu	37	15	69320560	69320560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:69320560C>G	uc002ars.1	+	3	200	c.180C>G	c.(178-180)TTC>TTG	p.F60L	NOX5_uc002arp.1_Missense_Mutation_p.F42L|NOX5_uc002arq.1_Missense_Mutation_p.F42L|NOX5_uc010bid.1_Missense_Mutation_p.F53L|NOX5_uc002arr.1_Missense_Mutation_p.F60L|NOX5_uc010bie.1_5'UTR	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	60	Cytoplasmic (Potential).|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.|EF-hand 2.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						CACAGTCCTTCTTTGCAGAGC	0.577		NaN											0	0	0	0.050027	0	29	159				
ADAMTSL3	57188	broad.mit.edu	37	15	84657546	84657546	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:84657546G>A	uc002bjz.3	+	22	4044	c.3820G>A	c.(3820-3822)GAA>AAA	p.E1274K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1274K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E1274K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1274	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGATGTGGAAAGTTCTTC	0.318		NaN											0	0	0	0.080935	0	9	64				
SEMA4B	10509	broad.mit.edu	37	15	90771388	90771388	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:90771388A>T	uc002boy.2	+	15	2310	c.2027A>T	c.(2026-2028)GAG>GTG	p.E676V	SEMA4B_uc002boz.2_Missense_Mutation_p.E676V|SEMA4B_uc010uqd.1_Missense_Mutation_p.E514V|SEMA4B_uc002bpa.2_Missense_Mutation_p.E514V|SEMA4B_uc010bnv.1_Missense_Mutation_p.E314V	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTGGTGGAGGACGGGGTG	0.622		NaN											0	0	0	0.069234	0	11	14				
CHD2	1106	broad.mit.edu	37	15	93467681	93467681	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467681G>A	uc002bsp.2	+	3	768	c.193G>A	c.(193-195)GAA>AAA	p.E65K	CHD2_uc002bsm.1_Missense_Mutation_p.E65K|CHD2_uc002bsn.2_Missense_Mutation_p.E65K|CHD2_uc002bso.1_Missense_Mutation_p.E65K|CHD2_uc010urb.1_Missense_Mutation_p.E78K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	65	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGTCAGTCGGAATCTGAGAG	0.522		NaN											0	0	0	0.139131	0	55	111				
CHD2	1106	broad.mit.edu	37	15	93467687	93467687	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467687G>A	uc002bsp.2	+	3	774	c.199G>A	c.(199-201)GAG>AAG	p.E67K	CHD2_uc002bsm.1_Missense_Mutation_p.E67K|CHD2_uc002bsn.2_Missense_Mutation_p.E67K|CHD2_uc002bso.1_Missense_Mutation_p.E67K|CHD2_uc010urb.1_Missense_Mutation_p.E80K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	67	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTCGGAATCTGAGAGCGAATC	0.522		NaN											0	0	0	0.139131	0	63	106				
SPSB3	90864	broad.mit.edu	37	16	1828497	1828497	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:1828497G>A	uc002cmr.2	-	2	276	c.243C>T	c.(241-243)TTC>TTT	p.F81F	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Silent_p.F81F|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Silent_p.F136F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	81					intracellular signal transduction						0						GGCTGCTACAGAAGGAGGCCT	0.697		NaN											0	0	0	0.080935	0	12	28				
ABCC1	4363	broad.mit.edu	37	16	16232288	16232288	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:16232288G>A	uc010bvi.2	+	30	4535	c.4360G>A	c.(4360-4362)GAT>AAT	p.D1454N	ABCC1_uc010bvj.2_Missense_Mutation_p.D1395N|ABCC1_uc010bvk.2_Missense_Mutation_p.D1398N|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Missense_Mutation_p.D1339N|ABCC1_uc002del.3_Missense_Mutation_p.D1348N	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1454	ABC transporter 2.|Cytoplasmic.			DE->LL: Impairs leukotriene C4 transport.	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTTGTGTTGGATGAGGCCAC	0.602		NaN											0	0	0	0.069234	0	10	32				
SRCAP	10847	broad.mit.edu	37	16	30749639	30749639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:30749639G>A	uc002dze.1	+	34	8663	c.8278G>A	c.(8278-8280)GAA>AAA	p.E2760K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2555K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2760	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGTGGTAGAGGAAAAGGAACT	0.627		NaN											0	0	0	0.038147	0	7	71		Valid		
STX4	6810	broad.mit.edu	37	16	31051064	31051064	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31051064C>G	uc002eal.2	+	10	1058	c.834C>G	c.(832-834)ATC>ATG	p.I278M	STX4_uc002eak.2_Missense_Mutation_p.I276M|STX4_uc002eam.2_Missense_Mutation_p.I200M|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	278	Helical; Anchor for type IV membrane protein; (Potential).|Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						TGATTGCCATCTGTGTGTCCA	0.587		NaN											0	0	0	0.139131	0	49	185				
ITGAD	3681	broad.mit.edu	37	16	31422500	31422500	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31422500G>A	uc002ebv.1	+	13	1509	c.1460G>A	c.(1459-1461)CGA>CAA	p.R487Q	ITGAD_uc010cap.1_Missense_Mutation_p.R487Q	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	487	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GAGCAGACCCGAGGGGGCCAG	0.642		NaN											0	0	0	0.099896	0	25	97				
HEATR3	55027	broad.mit.edu	37	16	50118104	50118104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50118104G>T	uc002efw.2	+	9	1354	c.1192G>T	c.(1192-1194)GAG>TAG	p.E398*	HEATR3_uc002efx.2_Nonsense_Mutation_p.E312*	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	398							binding			ovary(1)|skin(1)	2						CGCATTTATGGAGAATTCCTT	0.502		NaN											1	0	5.50884e-06	0.09319	6.32232e-06	12	155				
BRD7	29117	broad.mit.edu	37	16	50354583	50354583	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50354583C>G	uc002egf.1	-	15	1670	c.1603G>C	c.(1603-1605)GAC>CAC	p.D535H	BRD7_uc002ege.1_Missense_Mutation_p.D536H	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	535					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				CCTTCAGAGTCAAAAACTTCA	0.433		NaN											0	0	0	0.0918	0	26	410				
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:54966652C>T	uc002ehv.2	+	2	492	c.492C>T	c.(490-492)TTC>TTT	p.F164F	IRX5_uc010cca.1_Silent_p.F216F|IRX5_uc002ehw.2_Silent_p.F98F	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	164	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCACCTGGTTCGCCAACGCGC	0.597		NaN											0	0	0	0.116897	0	28	205				
CDH11	1009	broad.mit.edu	37	16	64981702	64981702	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:64981702G>T	uc002eoi.2	-	13	2629	c.2195C>A	c.(2194-2196)CCC>CAC	p.P732H	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P606H	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	732	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGAGCCGTGGGGTCATTGTC	0.562		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			1	0	1.50598e-64	0.139131	1.81785e-64	151	79				
TERF2	7014	broad.mit.edu	37	16	69419321	69419321	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:69419321A>G	uc002exd.2	-	2	447	c.322T>C	c.(322-324)TCG>CCG	p.S108P	TERF2_uc002exe.2_Missense_Mutation_p.S108P	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	108	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TCAATCCGCGACAGACACTGC	0.488		NaN											0	0	0	0.139131	0	45	346				
HYDIN	54768	broad.mit.edu	37	16	70908274	70908274	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:70908274C>T	uc002ezr.2	-	64	11007	c.10879G>A	c.(10879-10881)GAA>AAA	p.E3627K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3628										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTTATGTCTTCCTGGCTGGTG	0.507		NaN											0	0	0	0.076483	0	19	223				
KIAA0753	9851	broad.mit.edu	37	17	6526348	6526348	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:6526348G>C	uc002gde.3	-	6	1317	c.958C>G	c.(958-960)CAG>GAG	p.Q320E	KIAA0753_uc010vtd.1_5'Flank|KIAA0753_uc010clo.2_Missense_Mutation_p.Q21E|KIAA0753_uc010vte.1_Missense_Mutation_p.Q21E	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	320						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		TCAGTAAACTGAGTGACAAAC	0.498		NaN											0	0	0	0.105934	0	13	35				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.117977	0	39	25		Valid		
DNAH2	146754	broad.mit.edu	37	17	7680153	7680153	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7680153G>A	uc002giu.1	+	31	5018	c.5004G>A	c.(5002-5004)CTG>CTA	p.L1668L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1668	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGCCTGCTGACAGCGAAGG	0.448		NaN											0	0	0	0.038395	0	14	6				
DNAH9	1770	broad.mit.edu	37	17	11700983	11700983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:11700983G>A	uc002gne.2	+	43	8361	c.8293G>A	c.(8293-8295)GAG>AAG	p.E2765K	DNAH9_uc010coo.2_Missense_Mutation_p.E2059K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2765					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTATTGGGGAGCCCAAATA	0.498		NaN											0	0	0	0.058154	0	10	33				
KIAA0100	9703	broad.mit.edu	37	17	26966617	26966617	+	Silent	SNP	G	G	C	rs147060997	by1000genomes	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966617G>C	uc002hbu.2	-	10	1158	c.1059C>G	c.(1057-1059)CTC>CTG	p.L353L	KIAA0100_uc002hbv.2_Silent_p.L353L|KIAA0100_uc010crr.1_3'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	353						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGAGGGAGTTGAGGCAGACAA	0.473		NaN											0	0	0	0.11911	0	14	147				
PHF12	57649	broad.mit.edu	37	17	27235835	27235835	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27235835C>T	uc002hdg.1	-	12	2954	c.2424G>A	c.(2422-2424)GTG>GTA	p.V808V	PHF12_uc010wbb.1_Silent_p.V790V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	808					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCACATGTTCACAGCTCCTC	0.507		NaN											0	0	0	0.058154	0	8	64				
PIPOX	51268	broad.mit.edu	37	17	27379941	27379941	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27379941G>A	uc002hdr.1	+	3	593	c.267G>A	c.(265-267)CAG>CAA	p.Q89Q		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	89					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TTAACAGGCAGACTGGATTAC	0.323		NaN											0	0	0	0.059317	0	35	21				
ACACA	31	broad.mit.edu	37	17	35479509	35479509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:35479509G>A	uc002hnm.2	-	49	6162	c.5971C>T	c.(5971-5973)CGA>TGA	p.R1991*	ACACA_uc002hnk.2_Nonsense_Mutation_p.R1913*|ACACA_uc002hnl.2_Nonsense_Mutation_p.R1933*|ACACA_uc002hnn.2_Nonsense_Mutation_p.R1991*|ACACA_uc002hno.2_Nonsense_Mutation_p.R2028*|ACACA_uc010cuy.2_Nonsense_Mutation_p.R636*|ACACA_uc010wdb.1_Nonsense_Mutation_p.R29*|ACACA_uc010wdc.1_Nonsense_Mutation_p.R117*	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1991	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTACTGTTCGGGTTTCTACA	0.463		NaN											0	0	0	0.099896	0	24	117				
KRT39	390792	broad.mit.edu	37	17	39120762	39120762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39120762C>T	uc002hvo.1	-	2	523	c.487G>A	c.(487-489)GAG>AAG	p.E163K	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	163	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGAATTCTCGGCCTTGGTA	0.443		NaN											0	0	0	0.069456	0	38	131				
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39406130G>A	uc002hwi.2	+	1	192	c.158G>A	c.(157-159)CGC>CAC	p.R53H	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	6.|15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642		NaN											0	0	0	0.038147	0	7	121				
FKBP10	60681	broad.mit.edu	37	17	39973408	39973408	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39973408G>A	uc002hxv.2	+	2	669	c.344G>A	c.(343-345)CGA>CAA	p.R115Q	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	115	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AACGAGCGGCGACGCCTCATT	0.647		NaN											0	0	0	0.132662	0	16	68				
HOXB4	3214	broad.mit.edu	37	17	46654260	46654260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46654260C>G	uc002inp.2	-	2	642	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGGCGATCTCCACCCTCCGG	0.602		NaN											0	0	0	0.064281	0	35	136				
HOXB8	3218	broad.mit.edu	37	17	46691841	46691841	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46691841C>T	uc002inw.2	-	1	461	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGCACGCCACGGCGCACGGG	0.662		NaN											0	0	0	0.11911	0	13	46				
EPN3	55040	broad.mit.edu	37	17	48618226	48618226	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48618226C>T	uc002ira.3	+	7	1487	c.1052C>T	c.(1051-1053)TCA>TTA	p.S351L	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S379L|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S324L	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	351	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCGATCCCCTCAGGAACCGTC	0.632		NaN											0	0	0	0.09319	0	12	43				
WFIKKN2	124857	broad.mit.edu	37	17	48918001	48918001	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48918001G>C	uc002isv.3	+	2	2046	c.1352G>C	c.(1351-1353)CGG>CCG	p.R451P	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R358P	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	451	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCAAGCCTCGGCAGAAGCTC	0.647		NaN											0	0	0	0.021553	0	6	81				
CACNG4	27092	broad.mit.edu	37	17	64961035	64961035	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:64961035G>C	uc002jft.1	+	1	23	c.8G>C	c.(7-9)CGA>CCA	p.R3P		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	3	Cytoplasmic (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCATGGTGCGATGCGACCGC	0.453		NaN											0	0	0	0.014758	0	5	8				
AFMID	125061	broad.mit.edu	37	17	76187059	76187059	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76187059G>C	uc002jva.3	+	2	87	c.72G>C	c.(70-72)GAG>GAC	p.E24D	AFMID_uc002juy.3_RNA|AFMID_uc010dhj.2_Missense_Mutation_p.E24D|AFMID_uc002jvb.3_Missense_Mutation_p.E24D|AFMID_uc002juz.3_Missense_Mutation_p.E24D	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	24						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAGCTGGAGAATCAGTACT	0.572		NaN											0	0	0	0.080935	0	11	20				
DNAH17	8632	broad.mit.edu	37	17	76435210	76435210	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76435210C>T	uc010dhp.1	-	18	2989	c.2767G>A	c.(2767-2769)GAC>AAC	p.D923N	DNAH17_uc002jvq.2_Missense_Mutation_p.D208N|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCACGTCCAGGGCGTTC	0.552		NaN											0	0	0	0.11911	0	14	45				
PYCR1	5831	broad.mit.edu	37	17	79891091	79891091	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:79891091C>G	uc002kcr.1	-	7	1237	c.959G>C	c.(958-960)TGA>TCA	p.*320S	PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Nonstop_Mutation_p.*347S|PYCR1_uc002kct.1_Nonstop_Mutation_p.*320S|PYCR1_uc002kcu.1_Nonstop_Mutation_p.*289S	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	320					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CAGGACGTGTCAATCCTTGCC	0.622		NaN											0	0	0	0.074837	0	32	48				
RALBP1	10928	broad.mit.edu	37	18	9535846	9535846	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:9535846G>C	uc002kob.2	+	10	2102	c.1879G>C	c.(1879-1881)GAG>CAG	p.E627Q	RALBP1_uc002koc.2_Missense_Mutation_p.E627Q	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	627					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						CGGCGTCCTTGAGCCAAAAGC	0.657		NaN											0	0	0	0.014758	0	4	9				
FAM59A	64762	broad.mit.edu	37	18	29867522	29867522	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:29867522C>T	uc002kxl.2	-	4	1094	c.1038G>A	c.(1036-1038)GTG>GTA	p.V346V	FAM59A_uc002kxk.1_Silent_p.V346V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	346										ovary(1)|skin(1)	2						AGTCGGTTTTCACATCACGGA	0.557		NaN											0	0	0	0.076483	0	24	109				
ASXL3	80816	broad.mit.edu	37	18	31318552	31318552	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:31318552C>G	uc010dmg.1	+	11	1239	c.1184C>G	c.(1183-1185)TCT>TGT	p.S395C	ASXL3_uc002kxq.2_Missense_Mutation_p.S102C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTTCCAGTTTCTGCACAGACA	0.488		NaN											0	0	0	0.115264	0	3	39				
SLC39A6	25800	broad.mit.edu	37	18	33689640	33689640	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:33689640C>T	uc010dmy.2	-	10	2474	c.2184G>A	c.(2182-2184)CAG>CAA	p.Q728Q		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	728	Helical; Name=6; (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TCCCAGCATTCTGTAAAAAGA	0.343		NaN											0	0	0	0.059317	0	32	166				
STARD6	147323	broad.mit.edu	37	18	51851180	51851180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:51851180G>C	uc010xdt.1	-	6	545	c.545C>G	c.(544-546)TCA>TGA	p.S182*		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	182	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTCAATTATTGATGGGGACAA	0.358		NaN											0	0	0	0.047766	0	8	41				
CSNK1G2	1455	broad.mit.edu	37	19	1978449	1978449	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:1978449C>T	uc002lul.3	+	5	760	c.237C>T	c.(235-237)ATC>ATT	p.I79I	CSNK1G2_uc010dsu.2_Silent_p.I31I	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	79	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCCGATCAAGTCCCGGG	0.597		NaN											0	0	0	0.009096	0	4	13				
SH2D3A	10045	broad.mit.edu	37	19	6752630	6752630	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:6752630A>G	uc002mft.2	-	10	1899	c.1705T>C	c.(1705-1707)TCG>CCG	p.S569P	SH2D3A_uc010xjg.1_Missense_Mutation_p.S476P	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	569					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						AGGCGCTGCGACAGGACGCCG	0.667		NaN											0	0	0	0.115264	0	2	4				
TIMM44	10469	broad.mit.edu	37	19	7992973	7992973	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:7992973C>T	uc002miz.2	-	11	1119	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	TIMM44_uc002mja.2_Missense_Mutation_p.D113N|TIMM44_uc010dvx.1_RNA|CTXN1_uc002miy.3_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	373					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						TCGACGTTGTCAATGTCTAGG	0.637		NaN											0	0	0	0.02938	0	6	26				
ACTL9	284382	broad.mit.edu	37	19	8808334	8808334	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:8808334C>T	uc002mkl.2	-	1	839	c.718G>A	c.(718-720)GGC>AGC	p.G240S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						AGGGGCAGGCCGGCCTGGAGC	0.657		NaN											0	0	0	0.11911	0	14	45				
MUC16	94025	broad.mit.edu	37	19	9083641	9083641	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9083641G>C	uc002mkp.2	-	1	8378	c.8174C>G	c.(8173-8175)TCT>TGT	p.S2725C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2725	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGTGGAAGAAGGATGGAG	0.468		NaN											0	0	0	0.134883	0	29	119				
DHPS	1725	broad.mit.edu	37	19	12790678	12790678	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12790678G>A	uc002muh.1	-	3	528	c.431C>T	c.(430-432)GCG>GTG	p.A144V	DHPS_uc002muf.1_Missense_Mutation_p.A21V|DHPS_uc002mug.1_Missense_Mutation_p.A102V|DHPS_uc002mui.1_Missense_Mutation_p.A144V|DHPS_uc002muj.1_Missense_Mutation_p.A144V|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	144					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	GTATGTGGGCGCCAGGCACTT	0.597		NaN											0	0	0	0.144211	0	32	62				
MAST1	22983	broad.mit.edu	37	19	12954349	12954349	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12954349C>T	uc002mvm.2	+	4	383	c.255C>T	c.(253-255)GAC>GAT	p.D85D	MAST1_uc002mvk.2_Silent_p.D81D|MAST1_uc002mvl.2_Intron	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	85					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCAGGGCGGACGGACGCCGGT	0.667		NaN											0	0	0	0.038147	0	6	62				
CD97	976	broad.mit.edu	37	19	14517528	14517528	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:14517528G>C	uc002myl.2	+	16	2188	c.2065G>C	c.(2065-2067)GAG>CAG	p.E689Q	CD97_uc002mym.2_Missense_Mutation_p.E640Q|CD97_uc002myn.2_Missense_Mutation_p.E596Q	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	689	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						GTTGGACTTTGAGCAGGGCTT	0.622		NaN									OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.069456	0	35	191				
EPS15L1	58513	broad.mit.edu	37	19	16552747	16552747	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:16552747G>A	uc002ndz.1	-	3	127	c.121C>T	c.(121-123)CTT>TTT	p.L41F	EPS15L1_uc002ndx.2_Missense_Mutation_p.L41F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.L41F|EPS15L1_uc010eah.1_Missense_Mutation_p.L41F|EPS15L1_uc002nec.1_Missense_Mutation_p.L41F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	41	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						TTTAGAAAAAGCGCAGCTTCA	0.517		NaN									OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.054565	0	32	160				
USHBP1	83878	broad.mit.edu	37	19	17373412	17373412	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17373412C>T	uc002nfs.1	-	4	704	c.591G>A	c.(589-591)ACG>ACA	p.T197T	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.T133T|USHBP1_uc010eam.1_Silent_p.T125T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	197	Potential.						PDZ domain binding			ovary(1)	1						GGGAGGCCTGCGTGCGGACCA	0.657		NaN											0	0	0	0.11126	0	42	58				
SLC5A5	6528	broad.mit.edu	37	19	17983432	17983432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983432G>A	uc002nhr.3	+	1	651	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	102	Helical; (Potential).		A -> P.		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGTCCTCACCGCCCTGCTCTT	0.662		NaN											0	0	0	0.02938	0	5	72				
SLC5A5	6528	broad.mit.edu	37	19	17983483	17983483	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983483G>A	uc002nhr.3	+	1	702	c.355G>A	c.(355-357)GAG>AAG	p.E119K		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	119	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CAGCACCTACGAGGTACCGGA	0.667		NaN											0	0	0	0.02938	0	6	52				
NUDT19	390916	broad.mit.edu	37	19	33202726	33202726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:33202726G>T	uc010edf.2	+	3	991	c.991G>T	c.(991-993)GAA>TAA	p.E331*		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	331						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					AAAGACTGAGGAAATCATGAA	0.348		NaN											1	0	1.58986e-06	0.069234	1.82938e-06	11	60				
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:35434793G>A	uc010edp.1	+	5	1301	c.923G>A	c.(922-924)AGA>AAA	p.R308K	ZNF30_uc002nxf.2_Missense_Mutation_p.R227K|ZNF30_uc010edq.1_Missense_Mutation_p.R309K|ZNF30_uc010edr.1_Missense_Mutation_p.R309K	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	308	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448		NaN											0	0	0	0.049695	0	19	97				
RYR1	6261	broad.mit.edu	37	19	38966027	38966027	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:38966027C>G	uc002oit.2	+	29	4360	c.4230C>G	c.(4228-4230)CTC>CTG	p.L1410L	RYR1_uc002oiu.2_Silent_p.L1410L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1410	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCCCCGACTCCCTCACGACG	0.622		NaN											0	0	0	0.009096	0	4	34				
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:39995950G>C	uc002olx.2	+	6	1010	c.952G>C	c.(952-954)GAT>CAT	p.D318H	DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	318	EGF-like 3.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACATGTGCAGATGGACCCTG	0.617		NaN											0	0	0	0.139131	0	45	104				
ADCK4	79934	broad.mit.edu	37	19	41206059	41206059	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41206059C>T	uc002oor.2	-	12	1358	c.1056G>A	c.(1054-1056)ACG>ACA	p.T352T	ADCK4_uc002oop.1_Silent_p.T29T|ADCK4_uc002ooq.1_Silent_p.T311T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	352	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCAGACACAGCGTCAGGAGCT	0.557		NaN											0	0	0	0.055883	0	21	24				
CYP2A6	1548	broad.mit.edu	37	19	41354576	41354576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41354576C>A	uc002opl.3	-	3	457	c.436G>T	c.(436-438)GAG>TAG	p.E146*	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	146					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATGCGCTCCTCGATGCCTCGC	0.692		NaN											1	0	4.7546e-09	0.146539	5.52832e-09	15	64				
ZFP112	7771	broad.mit.edu	37	19	44832455	44832455	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44832455G>C	uc010ejj.2	-	5	1986	c.1873C>G	c.(1873-1875)CAA>GAA	p.Q625E	ZFP112_uc002ozc.3_Missense_Mutation_p.Q619E|ZFP112_uc010xwy.1_Missense_Mutation_p.Q642E|ZFP112_uc010xwz.1_Missense_Mutation_p.Q624E	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	625	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TGATGGCCTTGAAGGTGTGAA	0.458		NaN											0	0	0	0.0918	0	25	171				
ZNF229	7772	broad.mit.edu	37	19	44936420	44936420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44936420G>C	uc002oze.1	-	5	649	c.215C>G	c.(214-216)TCA>TGA	p.S72*	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Nonsense_Mutation_p.S72*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				CTCACCCACTGAGAGTAGGTT	0.468		NaN											0	0	0	0.083992	0	22	144				
FKRP	79147	broad.mit.edu	37	19	47259808	47259808	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:47259808C>G	uc002pfn.2	+	4	1398	c.1101C>G	c.(1099-1101)ATC>ATG	p.I367M	FKRP_uc002pfp.2_Missense_Mutation_p.I367M	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	367						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTGGGCATCTACTTGGAGG	0.701		NaN											0	0	0	0.02938	0	7	25				
NUCB1	4924	broad.mit.edu	37	19	49425626	49425626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:49425626C>G	uc002plb.3	+	13	1403	c.1331C>G	c.(1330-1332)TCA>TGA	p.S444*	NUCB1_uc002plc.2_Nonsense_Mutation_p.S444*|NUCB1_uc002pld.2_Nonsense_Mutation_p.S107*	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	444						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTGGACACTTCAGAAAAGAAA	0.547		NaN											0	0	0	0.139131	0	42	92				
ZNF28	7576	broad.mit.edu	37	19	53303586	53303586	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:53303586G>A	uc002qad.2	-	4	1632	c.1512C>T	c.(1510-1512)TTC>TTT	p.F504F	ZNF28_uc002qac.2_Silent_p.F451F|ZNF28_uc010eqe.2_Silent_p.F450F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATCACTCCGGAAAGCCTTGT	0.393		NaN											0	0	0	0.054565	0	30	161				
ZNF671	79891	broad.mit.edu	37	19	58238866	58238866	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:58238866C>G	uc002qpz.3	-	1	130	c.31G>C	c.(31-33)GAT>CAT	p.D11H	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCAGAGCATCAGACGCGTCT	0.667		NaN											0	0	0	0.038147	0	8	41				
SNTG2	54221	broad.mit.edu	37	2	1079260	1079260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:1079260C>G	uc002qwq.2	+	2	257	c.129C>G	c.(127-129)ATC>ATG	p.I43M	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.I43M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	43					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTATGACATCCGGCTGAAGC	0.473		NaN											0	0	0	0.069288	0	21	97				
APOB	338	broad.mit.edu	37	2	21225673	21225673	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:21225673T>C	uc002red.2	-	29	12749	c.12621A>G	c.(12619-12621)AAA>AAG	p.K4207K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4207					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATCCCAGGTTTCCCCGGAA	0.433		NaN											0	0	0	0.09319	0	12	65				
ASXL2	55252	broad.mit.edu	37	2	25982476	25982476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:25982476C>G	uc002rgs.2	-	8	1035	c.814G>C	c.(814-816)GAG>CAG	p.E272Q	ASXL2_uc002rgt.1_Missense_Mutation_p.E12Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGTGTCTCAACGTCAATG	0.423		NaN											0	0	0	0.139131	0	64	104				
SLC4A1AP	22950	broad.mit.edu	37	2	27888132	27888132	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:27888132G>T	uc002rlk.3	+	2	1273	c.991G>T	c.(991-993)GAT>TAT	p.D331Y	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	331						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TGGTAGCCAAGATGATGAGAT	0.398		NaN											1	0	5.35356e-11	0.076483	6.29079e-11	21	106				
PRKD3	23683	broad.mit.edu	37	2	37487476	37487476	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487476C>T	uc002rqd.2	-	14	2491	c.1936G>A	c.(1936-1938)GAA>AAA	p.E646K	PRKD3_uc002rqe.1_Missense_Mutation_p.E246K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	646	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AAGACTCGTTCTGGGGTTTCA	0.393		NaN											0	0	0	0.09319	0	12	46				
PRKD3	23683	broad.mit.edu	37	2	37487528	37487528	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487528C>G	uc002rqd.2	-	14	2440	c.1885_splice	c.e14-1	p.N629_splice	PRKD3_uc002rqe.1_Splice_Site_p.N229_splice	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GGTGCAAATTCTGAAGAGAGG	0.388		NaN											0	0	0	0.038147	0	7	37				
PSME4	23198	broad.mit.edu	37	2	54167130	54167130	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54167130C>T	uc002rxp.2	-	4	564	c.508G>A	c.(508-510)GAA>AAA	p.E170K	PSME4_uc010yop.1_Missense_Mutation_p.E56K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAATATTTTCTACAGAACTG	0.343		NaN											0	0	0	0.139131	0	56	57				
SPTBN1	6711	broad.mit.edu	37	2	54856191	54856191	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54856191C>T	uc002rxu.2	+	14	2169	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L	SPTBN1_uc002rxv.1_Silent_p.L640L|SPTBN1_uc002rxx.2_Silent_p.L627L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	640	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCCGCCGCCTCTGGAAGTTCT	0.592		NaN											0	0	0	0.086207	0	37	132				
SNRNP200	23020	broad.mit.edu	37	2	96957605	96957605	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:96957605C>T	uc002svu.2	-	17	2280	c.2194G>A	c.(2194-2196)GGA>AGA	p.G732R	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	732	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GCTGTCTTTCCAGTCTCCTTC	0.567		NaN											0	0	0	0.105934	0	13	52				
MAP4K4	9448	broad.mit.edu	37	2	102493575	102493575	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:102493575C>T	uc002tbg.2	+	24	2972	c.2917C>T	c.(2917-2919)CTT>TTT	p.L973F	MAP4K4_uc002tbc.2_Missense_Mutation_p.L1054F|MAP4K4_uc002tbd.2_Missense_Mutation_p.L946F|MAP4K4_uc002tbe.2_Missense_Mutation_p.L892F|MAP4K4_uc002tbf.2_Missense_Mutation_p.L1007F|MAP4K4_uc010yvy.1_Missense_Mutation_p.L969F|MAP4K4_uc002tbh.2_Missense_Mutation_p.L891F|MAP4K4_uc002tbi.2_Missense_Mutation_p.L776F|MAP4K4_uc010yvz.1_Missense_Mutation_p.L1013F|MAP4K4_uc002tbk.2_Missense_Mutation_p.L428F|MAP4K4_uc002tbl.2_Missense_Mutation_p.L159F	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	973	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AATGGACGTACTTGAGGGCTT	0.433		NaN											0	0	0	0.083992	0	24	37				
RANBP2	5903	broad.mit.edu	37	2	109384816	109384816	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:109384816C>G	uc002tem.3	+	20	7947	c.7821C>G	c.(7819-7821)ATC>ATG	p.I2607M		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2607					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AATCTTCAATCAACTACACAT	0.328		NaN											0	0	0	0.139131	0	69	220				
PCDP1	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:120413990G>A	uc002tmb.2	+	25	2701	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	823						cilium	calmodulin binding				0	Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473		NaN											0	0	0	0.080935	0	10	45				
LIMS2	55679	broad.mit.edu	37	2	128399744	128399744	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128399744C>A	uc002tpa.2	-	6	706	c.540G>T	c.(538-540)CTG>CTT	p.L180L	LIMS2_uc002tou.2_5'UTR|LIMS2_uc002tov.2_Silent_p.L28L|LIMS2_uc002tow.2_Silent_p.L28L|LIMS2_uc002tox.2_Silent_p.L204L|LIMS2_uc010fmb.2_Silent_p.L90L|LIMS2_uc002toy.2_Silent_p.L175L|LIMS2_uc010yzm.1_Silent_p.L202L|LIMS2_uc002toz.2_Silent_p.L175L|LIMS2_uc002tpb.2_Silent_p.L175L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	180	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCACCCTTCAGCTCGCGGG	0.692		NaN											1	0	0.00307968	0.038147	0.00348035	8	11				
GPR17	2840	broad.mit.edu	37	2	128408752	128408752	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128408752C>A	uc010yzn.1	+	4	1138	c.527C>A	c.(526-528)GCA>GAA	p.A176E	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.A176E|GPR17_uc010yzo.1_Missense_Mutation_p.A148E|GPR17_uc002tpd.2_Missense_Mutation_p.A148E	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	176	Helical; Name=4; (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCTCTACGCACACCTGGCC	0.642		NaN											1	0	3.30712e-30	0.139131	3.9596e-30	65	96				
WDR33	55339	broad.mit.edu	37	2	128464101	128464101	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128464101C>G	uc002tpg.1	-	22	3990	c.3807G>C	c.(3805-3807)CAG>CAC	p.Q1269H		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1269					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGCACTCTCTGAGCAGGTC	0.517		NaN											0	0	0	0.0333	0	17	79				
LRP1B	53353	broad.mit.edu	37	2	140990860	140990860	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:140990860T>C	uc002tvj.1	-	91	14667	c.13695A>G	c.(13693-13695)TTA>TTG	p.L4565L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4565	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATATATAATTTTGCAT	0.333		NaN								TSP Lung(27;0.18)			0	0	0	0.125774	0	26	14				
NEB	4703	broad.mit.edu	37	2	152510589	152510589	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:152510589C>T	uc010fnx.2	-	52	7023	c.6832G>A	c.(6832-6834)GAA>AAA	p.E2278K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2278	Nebulin 60.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAAAGCTTCTTCCCATCCA	0.333		NaN											0	0	0	0.080935	0	12	38				
PRPF40A	55660	broad.mit.edu	37	2	153515522	153515522	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:153515522C>G	uc002tyh.3	-	24	2530	c.2508G>C	c.(2506-2508)GAG>GAC	p.E836D	PRPF40A_uc002tyg.3_Missense_Mutation_p.E292D|PRPF40A_uc010zcd.1_Missense_Mutation_p.E787D	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	863					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TATAACTTCTCTCTGAGTAGC	0.323		NaN											0	0	0	0.014758	0	5	15				
SCN3A	6328	broad.mit.edu	37	2	166003408	166003408	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166003408C>T	uc002ucx.2	-	12	2004	c.1512G>A	c.(1510-1512)AAG>AAA	p.K504K	SCN3A_uc002ucy.2_Silent_p.K504K|SCN3A_uc002ucz.2_Silent_p.K504K|SCN3A_uc002uda.1_Silent_p.K373K|SCN3A_uc002udb.1_Silent_p.K373K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	504						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTCTTCTTTTCTTCCTTCGGT	0.438		NaN											0	0	0	0.069456	0	38	148				
SCN3A	6328	broad.mit.edu	37	2	166019259	166019259	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166019259C>G	uc002ucx.2	-	8	1266	c.774G>C	c.(772-774)CTG>CTC	p.L258L	SCN3A_uc002ucy.2_Silent_p.L258L|SCN3A_uc002ucz.2_Silent_p.L258L|SCN3A_uc002uda.1_Silent_p.L127L|SCN3A_uc002udb.1_Silent_p.L127L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	258	Helical; Name=S5 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CAAACACGCTCAGACAGAACA	0.483		NaN											0	0	0	0.083992	0	23	82				
GALNT3	2591	broad.mit.edu	37	2	166627186	166627186	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166627186T>A	uc010fph.1	-	2	412	c.25A>T	c.(25-27)AAA>TAA	p.K9*	GALNT3_uc010fpi.1_Nonsense_Mutation_p.K9*|GALNT3_uc002udi.2_Nonsense_Mutation_p.K9*	NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	9	Cytoplasmic (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3						ATGTGTAATTTTACTAGTCGC	0.284		NaN											0	0	0	0.069456	0	35	46				
SCN9A	6335	broad.mit.edu	37	2	167151173	167151173	+	Splice_Site	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:167151173C>T	uc010fpl.2	-	8	1243	c.902_splice	c.e8-1	p.K301_splice	uc002udp.2_RNA|SCN9A_uc002udr.1_Splice_Site_p.K172_splice|SCN9A_uc002uds.1_Splice_Site_p.K172_splice|SCN9A_uc002udt.1_Splice_Site_p.K172_splice	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAAAATATTCTGTTGAAGAA	0.303		NaN											0	0	0	0.021553	0	6	31				
CDCA7	83879	broad.mit.edu	37	2	174231089	174231089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:174231089C>T	uc002uid.1	+	7	1008	c.877C>T	c.(877-879)CGA>TGA	p.R293*	CDCA7_uc002uic.1_Nonsense_Mutation_p.R372*|CDCA7_uc010zej.1_Nonsense_Mutation_p.R328*|CDCA7_uc010zek.1_Nonsense_Mutation_p.R251*	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	293	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTGGGGCGTTCGAGGCCAGTT	0.522		NaN											0	0	0	0.064281	0	38	71				
TTN	7273	broad.mit.edu	37	2	179451491	179451491	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179451491G>A	uc010zfg.1	-	257	56657	c.56433C>T	c.(56431-56433)ACC>ACT	p.T18811T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12506T|TTN_uc010zfi.1_Silent_p.T12439T|TTN_uc010zfj.1_Silent_p.T12314T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19738							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTTCTTGGTCATTTCAG	0.448		NaN											0	0	0	0.139131	0	57	82				
TTN	7273	broad.mit.edu	37	2	179473525	179473525	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179473525T>C	uc010zfg.1	-	223	44733	c.44509A>G	c.(44509-44511)ACT>GCT	p.T14837A	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T8532A|TTN_uc010zfi.1_Missense_Mutation_p.T8465A|TTN_uc010zfj.1_Missense_Mutation_p.T8340A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCCAAAGTGTAGTTTATG	0.378		NaN											0	0	0	0.055883	0	20	83				
ITGA4	3676	broad.mit.edu	37	2	182360109	182360109	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:182360109G>C	uc002unu.2	+	13	2114	c.1351G>C	c.(1351-1353)GGT>CGT	p.G451R		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	451	FG-GAP 7.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTAGCAGTTGGTGCTTTTCG	0.348		NaN											0	0	0	0.11126	0	40	75				
CLK1	1195	broad.mit.edu	37	2	201726128	201726128	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:201726128C>T	uc002uwe.2	-	3	404	c.223G>A	c.(223-225)GAG>AAG	p.E75K	CLK1_uc010zhi.1_Missense_Mutation_p.E117K|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	75					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TTTCTGTACTCATCAATGTAG	0.373		NaN											0	0	0	0.083992	0	26	88				
ICA1L	130026	broad.mit.edu	37	2	203650663	203650663	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203650663C>G	uc002uzh.1	-	13	1475	c.1311G>C	c.(1309-1311)CAG>CAC	p.Q437H	ICA1L_uc002uzi.1_Missense_Mutation_p.Q437H	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	437											0						TCTTTGGACTCTGTGAAGGCA	0.328		NaN											0	0	0	0.104719	0	38	79				
WDR12	55759	broad.mit.edu	37	2	203765749	203765749	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203765749G>A	uc002uzl.2	-	3	980	c.230C>T	c.(229-231)TCA>TTA	p.S77L	WDR12_uc010ftt.2_Missense_Mutation_p.S77L	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	77					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TGAACTTACTGATGAGATGTT	0.383		NaN											0	0	0	0.021553	0	6	33				
PARD3B	117583	broad.mit.edu	37	2	206480357	206480357	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:206480357G>A	uc002var.1	+	23	3645	c.3438G>A	c.(3436-3438)CCG>CCA	p.P1146P	PARD3B_uc002vao.1_Silent_p.P1045P|PARD3B_uc002vap.1_Silent_p.P1084P|PARD3B_uc002vaq.1_Silent_p.P1077P|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1146	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCCACCCCCGCCAGCTCCCC	0.617		NaN											0	0	0	0.062417	0	22	76				
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:207041526C>A	uc002vbl.3	-	3	832	c.446G>T	c.(445-447)CGA>CTA	p.R149L	GPR1_uc010fue.2_Missense_Mutation_p.R149L|GPR1_uc010fuf.2_Missense_Mutation_p.R149L	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463		NaN											1	0	1.67942e-08	0.038395	1.94251e-08	17	48				
GMPPA	29926	broad.mit.edu	37	2	220367145	220367145	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:220367145G>A	uc002vlr.2	+	6	539	c.471G>A	c.(469-471)GAG>GAA	p.E157E	GMPPA_uc002vls.2_Silent_p.E157E|GMPPA_uc002vlt.2_Silent_p.E157E|GMPPA_uc002vlu.2_Silent_p.E157E|GMPPA_uc002vlv.2_Silent_p.E157E|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.E157E	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	157					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCATCGTTGAGAATCCACAGA	0.582		NaN											0	0	0	0.069234	0	10	24				
SPHKAP	80309	broad.mit.edu	37	2	228883342	228883342	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228883342C>T	uc002vpq.2	-	7	2275	c.2228G>A	c.(2227-2229)AGA>AAA	p.R743K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R743K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R743K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	743						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCCCTCCTTCTGATGGTCTC	0.473		NaN											0	0	0	0.014758	0	5	125				
SPHKAP	80309	broad.mit.edu	37	2	228973649	228973649	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228973649G>A	uc002vpq.2	-	3	192	c.145C>T	c.(145-147)CGC>TGC	p.R49C	SPHKAP_uc002vpp.2_Missense_Mutation_p.R49C|SPHKAP_uc010zlx.1_Missense_Mutation_p.R49C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	49						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTGCTGCGAAGAACCTGG	0.413		NaN											0	0	0	0.124865	0	46	67				
DGKD	8527	broad.mit.edu	37	2	234358738	234358738	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:234358738G>A	uc002vui.1	+	16	2011	c.1999G>A	c.(1999-2001)GAG>AAG	p.E667K	DGKD_uc002vuj.1_Missense_Mutation_p.E623K|DGKD_uc010fyh.1_Missense_Mutation_p.E534K|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCCACAGCGAGAGCTTCGG	0.622		NaN											0	0	0	0.038147	0	6	38				
AGAP1	116987	broad.mit.edu	37	2	236617866	236617866	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:236617866C>T	uc002vvs.2	+	2	802	c.207C>T	c.(205-207)GTC>GTT	p.V69V	AGAP1_uc002vvt.2_Silent_p.V69V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	69	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GTCGATCTGTCCCGGAGCTCA	0.557		NaN											0	0	0	0.139131	0	43	151				
ASB18	401036	broad.mit.edu	37	2	237150037	237150037	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:237150037C>T	uc010znh.1	-	2	214	c.214G>A	c.(214-216)GAC>AAC	p.D72N	ASB18_uc010fyp.1_Missense_Mutation_p.D43N	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	72					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCAGATGGTCGAGGTCCCCT	0.517		NaN											0	0	0	0.099896	0	26	28				
ANO7	50636	broad.mit.edu	37	2	242128095	242128095	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:242128095G>A	uc002wax.2	+	1	172	c.69G>A	c.(67-69)GTG>GTA	p.V23V	ANO7_uc002waw.2_Silent_p.V23V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	23	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GTCCCGCAGTGAGGACGGGAC	0.677		NaN											0	0	0	0.108266	0	26	34				
MCM8	84515	broad.mit.edu	37	20	5937805	5937805	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937805G>C	uc002wmi.2	+	6	897	c.520G>C	c.(520-522)GAG>CAG	p.E174Q	MCM8_uc002wmj.2_Missense_Mutation_p.E174Q|MCM8_uc002wmk.2_Missense_Mutation_p.E174Q|MCM8_uc002wml.2_Missense_Mutation_p.E174Q|MCM8_uc010gbp.2_Missense_Mutation_p.E174Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	174					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GCATGCAGCTGAGTTACAAGC	0.368		NaN											0	0	0	0.038147	0	6	42				
MCM8	84515	broad.mit.edu	37	20	5937835	5937835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937835G>A	uc002wmi.2	+	6	927	c.550G>A	c.(550-552)GAT>AAT	p.D184N	MCM8_uc002wmj.2_Missense_Mutation_p.D184N|MCM8_uc002wmk.2_Missense_Mutation_p.D184N|MCM8_uc002wml.2_Missense_Mutation_p.D184N|MCM8_uc010gbp.2_Missense_Mutation_p.D184N	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	184					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						ATTGTCTAATGATGGAGAAAC	0.383		NaN											0	0	0	0.038147	0	6	36				
MCM8	84515	broad.mit.edu	37	20	5937839	5937839	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937839G>A	uc002wmi.2	+	6	931	c.554G>A	c.(553-555)GGA>GAA	p.G185E	MCM8_uc002wmj.2_Missense_Mutation_p.G185E|MCM8_uc002wmk.2_Missense_Mutation_p.G185E|MCM8_uc002wml.2_Missense_Mutation_p.G185E|MCM8_uc010gbp.2_Missense_Mutation_p.G185E	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	185					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCTAATGATGGAGAAACAATG	0.383		NaN											0	0	0	0.02938	0	5	37				
RBBP9	10741	broad.mit.edu	37	20	18474623	18474623	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:18474623G>A	uc002wqy.2	-	3	303	c.227C>T	c.(226-228)TCT>TTT	p.S76F		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	76						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						GATGGCCCCAGAACTGTGGCC	0.493		NaN											0	0	0	0.083992	0	23	125				
SPAG4	6676	broad.mit.edu	37	20	34206013	34206013	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:34206013C>G	uc002xdb.1	+	5	660	c.543C>G	c.(541-543)TTC>TTG	p.F181L	SPAG4_uc010zvi.1_Missense_Mutation_p.F104L	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	181	Helical; (Potential).				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGCATTCTGGCTGGGGC	0.557		NaN											0	0	0	0.108266	0	23	105				
BCAS1	8537	broad.mit.edu	37	20	52645063	52645063	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645063G>A	uc002xws.2	-	4	929	c.591C>T	c.(589-591)TTC>TTT	p.F197F	BCAS1_uc010zzb.1_Silent_p.F100F|BCAS1_uc010gim.2_Silent_p.F100F|BCAS1_uc002xwt.2_Silent_p.F197F|BCAS1_uc010gil.1_Silent_p.F197F|BCAS1_uc010zzc.1_Silent_p.F100F	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	197						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCTTGAAGAATTTGTCAA	0.557		NaN											0	0	0	0.059317	0	33	205				
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645101G>A	uc002xws.2	-	4	891	c.553C>T	c.(553-555)CCC>TCC	p.P185S	BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.1_Missense_Mutation_p.P88S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592		NaN											0	0	0	0.069288	0	24	154				
DIDO1	11083	broad.mit.edu	37	20	61537316	61537316	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:61537316G>A	uc002ydr.1	-	6	1775	c.1511C>T	c.(1510-1512)TCG>TTG	p.S504L	DIDO1_uc002yds.1_Missense_Mutation_p.S504L|DIDO1_uc002ydt.1_Missense_Mutation_p.S504L|DIDO1_uc002ydu.1_Missense_Mutation_p.S504L|DIDO1_uc002ydv.1_Missense_Mutation_p.S504L|DIDO1_uc002ydw.1_Missense_Mutation_p.S504L|DIDO1_uc002ydx.1_Missense_Mutation_p.S504L|DIDO1_uc011aao.1_Missense_Mutation_p.S504L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	504					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCTCGCCCACGACGGCGTGCT	0.532		NaN											0	0	0	0.069234	0	10	203				
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:16337172C>T	uc002yjx.2	-	4	3940	c.3342G>A	c.(3340-3342)ACG>ACA	p.T1114T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438		NaN											0	0	0	0.139131	0	53	85				
GABPA	2551	broad.mit.edu	37	21	27137078	27137078	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:27137078G>C	uc002ylx.3	+	9	1643	c.1116G>C	c.(1114-1116)GAG>GAC	p.E372D	GABPA_uc002yly.3_Missense_Mutation_p.E372D	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	372	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						TGAACTATGAGAAACTCAGTC	0.333		NaN											0	0	0	0.047766	0	9	50				
KRTAP19-5	337972	broad.mit.edu	37	21	31874326	31874326	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:31874326C>T	uc011ada.1	-	1	83	c.83G>A	c.(82-84)GGA>GAA	p.G28E		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament	protein binding				0						GCTGCCACATCCACAGCCATA	0.597		NaN											0	0	0	0.139131	0	92	147				
CRYAA	1409	broad.mit.edu	37	21	44592274	44592274	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:44592274G>T	uc002zdd.1	+	3	475	c.406G>T	c.(406-408)GAT>TAT	p.D136Y		NM_000394	NP_000385	P02489	CRYAA_HUMAN	crystallin, alpha A	136					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			breast(1)|central_nervous_system(1)	2						CCTGTCTGCCGATGGCATGCT	0.657		NaN											1	0	0.000422831	0.146539	0.000482769	17	74				
PDXK	8566	broad.mit.edu	37	21	45161560	45161560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:45161560G>A	uc002zdm.3	+	3	353	c.155G>A	c.(154-156)TGG>TAG	p.W52*	PDXK_uc010gpj.2_Nonsense_Mutation_p.W52*|PDXK_uc002zdn.3_Nonsense_Mutation_p.W52*|PDXK_uc002zdq.3_Intron	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	52					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TATGCCCACTGGAAGGGCCAA	0.577		NaN											0	0	0	0.021553	0	5	83				
COMT	1312	broad.mit.edu	37	22	19951777	19951777	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:19951777C>G	uc002zqu.2	+	5	819	c.570C>G	c.(568-570)CTC>CTG	p.L190L	COMT_uc002zqt.2_Silent_p.L190L|COMT_uc002zqv.2_Silent_p.L190L|COMT_uc002zqw.2_Silent_p.L190L|COMT_uc011ahd.1_Silent_p.L190L|COMT_uc002zqx.2_Silent_p.L190L	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	190					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TGGTCTTCCTCGACCACTGGA	0.592		NaN											0	0	0	0.134883	0	31	70				
SEZ6L	23544	broad.mit.edu	37	22	26761376	26761376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:26761376G>T	uc003acb.2	+	13	2794	c.2638G>T	c.(2638-2640)GAA>TAA	p.E880*	SEZ6L_uc003acc.2_Nonsense_Mutation_p.E880*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.E816*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Nonsense_Mutation_p.E653*|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	880	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGGGCTGCCTGAAAATGGATA	0.522		NaN											1	0	1.50986e-39	0.139131	1.81266e-39	100	128				
CARD10	29775	broad.mit.edu	37	22	37898637	37898637	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:37898637G>A	uc003asx.1	-	11	1762	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.R301W|CARD10_uc003asy.1_Missense_Mutation_p.R587W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	587					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CCACAGCCCCGAGCCAGGAGG	0.617		NaN											0	0	0	0.105934	0	13	41				
TRIOBP	11078	broad.mit.edu	37	22	38155170	38155170	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:38155170C>T	uc003atr.2	+	17	6494	c.6223C>T	c.(6223-6225)CTT>TTT	p.L2075F	TRIOBP_uc003atu.2_Missense_Mutation_p.L1903F|TRIOBP_uc003atv.2_Missense_Mutation_p.L362F|TRIOBP_uc003atw.2_Missense_Mutation_p.L362F|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2075	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGTTCAGGCTCTTCGGGCCCA	0.652		NaN											0	0	0	0.021553	0	5	28				
TBC1D22A	25771	broad.mit.edu	37	22	47507475	47507475	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:47507475A>C	uc003bib.2	+	12	1536	c.1401A>C	c.(1399-1401)GAA>GAC	p.E467D	TBC1D22A_uc010haf.2_Missense_Mutation_p.E437D|TBC1D22A_uc003bic.2_Missense_Mutation_p.E408D|TBC1D22A_uc003bie.2_Missense_Mutation_p.E389D|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.E420D	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	467						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGAAGGAAATACTAGAAG	0.358		NaN											0	0	0	0.105934	0	12	43				
SETD5	55209	broad.mit.edu	37	3	9517349	9517349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:9517349C>A	uc003brt.2	+	23	4338	c.3903C>A	c.(3901-3903)AGC>AGA	p.S1301R	SETD5_uc003bru.2_Missense_Mutation_p.S1203R|SETD5_uc003brv.2_Missense_Mutation_p.S1190R|SETD5_uc010hck.2_Missense_Mutation_p.S783R|SETD5_uc003brx.2_Missense_Mutation_p.S970R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1301	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTATTCCAGCCCCGCCCACC	0.547		NaN											1	0	6.94344e-10	0.038395	8.11595e-10	13	52				
MLH1	4292	broad.mit.edu	37	3	37092133	37092133	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:37092133G>C	uc003cgl.2	+	19	2320	c.2260G>C	c.(2260-2262)GAG>CAG	p.E754Q	MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Missense_Mutation_p.E513Q|MLH1_uc010hge.2_Missense_Mutation_p.E685Q|MLH1_uc003cgn.3_Missense_Mutation_p.E513Q|MLH1_uc011ayc.1_Missense_Mutation_p.E656Q|MLH1_uc011ayd.1_Missense_Mutation_p.E513Q|MLH1_uc003cgo.2_Missense_Mutation_p.E513Q|MLH1_uc010hgk.2_Missense_Mutation_p.E341Q|MLH1_uc010hgn.2_Missense_Mutation_p.L250F|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_3'UTR|MLH1_uc010hgp.2_Missense_Mutation_p.E137Q|MLH1_uc010hgq.2_RNA	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	754					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CAAAGTCTTTGAGAGGTGTTA	0.383		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.11911	0	13	51				
CELSR3	1951	broad.mit.edu	37	3	48697790	48697790	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:48697790C>T	uc003cul.2	-	1	2559	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	CELSR3_uc003cuf.1_Missense_Mutation_p.E830K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGTACTCCTTCATTGTG	0.567		NaN											0	0	0	0.0333	0	17	53				
GRM2	2912	broad.mit.edu	37	3	51751819	51751819	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:51751819C>T	uc010hlv.2	+	5	2770	c.2531C>T	c.(2530-2532)TCC>TTC	p.S844F	GRM2_uc003dbo.3_Missense_Mutation_p.S226F|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	844	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGGGCCAGCTCCAGCCTTGGC	0.627		NaN											0	0	0	0.105934	0	13	44				
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:96706267C>T	uc010how.1	+	3	587	c.544C>T	c.(544-546)CGT>TGT	p.R182C	EPHA6_uc003drp.1_Missense_Mutation_p.R182C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	87	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CAACTGGCTTCGTACAAACTG	0.428		NaN											0	0	0	0.076483	0	24	150				
FILIP1L	11259	broad.mit.edu	37	3	99567199	99567199	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:99567199G>A	uc003dtm.2	-	5	3784	c.3321C>T	c.(3319-3321)GTC>GTT	p.V1107V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.V1107V|FILIP1L_uc010hpf.2_Silent_p.V683V|FILIP1L_uc010hpg.2_Silent_p.V867V|FILIP1L_uc003dtn.2_Silent_p.V867V|FILIP1L_uc003dtp.1_Silent_p.V867V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1107						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TACTGCTGGTGACTTTATTGG	0.458		NaN											0	0	0	0.069456	0	37	153				
ZBTB11	27107	broad.mit.edu	37	3	101378715	101378715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:101378715C>T	uc003dve.3	-	6	2188	c.1958G>A	c.(1957-1959)TGT>TAT	p.C653Y		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	653	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACATATGGAACATATAAATTC	0.413		NaN											0	0	0	0.049695	0	21	86				
GTPBP8	29083	broad.mit.edu	37	3	112709949	112709949	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:112709949G>A	uc003dzn.2	+	1	150	c.103G>A	c.(103-105)GAG>AAG	p.E35K	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.E35K	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	35					barrier septum formation		GTP binding				0						AGCTTTTGCTGAGGTGCTGCG	0.632		NaN											0	0	0	0.0918	0	24	59				
IQCB1	9657	broad.mit.edu	37	3	121491405	121491405	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:121491405C>G	uc010hre.1	-	14	1781	c.1566G>C	c.(1564-1566)ATG>ATC	p.M522I	IQCB1_uc003eek.2_Missense_Mutation_p.M389I|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	522					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		AGCACATACTCATTAGCTGTT	0.443		NaN											0	0	0	0.125774	0	25	103				
MUC13	56667	broad.mit.edu	37	3	124646788	124646788	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:124646788C>G	uc003ehq.1	-	2	126	c.102G>C	c.(100-102)GCG>GCC	p.A34A		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	34	Thr-rich.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						GACCACTAGTCGCAGTTTCTG	0.453		NaN											0	0	0	0.0918	0	25	100				
COL6A6	131873	broad.mit.edu	37	3	130289928	130289928	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:130289928G>A	uc010htl.2	+	6	2699	c.2668G>A	c.(2668-2670)GAG>AAG	p.E890K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	890	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTATACTGCTGAGGCACTGGG	0.537		NaN											0	0	0	0.009096	0	4	22				
CCDC39	339829	broad.mit.edu	37	3	180349347	180349347	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:180349347C>T	uc010hxe.2	-	14	2023	c.1908G>A	c.(1906-1908)GAG>GAA	p.E636E	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	636					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTCAGCTTCTCAATTTTAC	0.338		NaN											0	0	0	0.108266	0	27	20				
MCCC1	56922	broad.mit.edu	37	3	182788887	182788887	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182788887C>G	uc003fle.2	-	7	798	c.661G>C	c.(661-663)GAA>CAA	p.E221Q	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.E104Q|MCCC1_uc003flg.2_Missense_Mutation_p.E112Q|MCCC1_uc011bqp.1_Missense_Mutation_p.E174Q|MCCC1_uc011bqq.1_Missense_Mutation_p.E112Q	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	221	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AATTCTTGTTCTGATCTAACA	0.383		NaN											0	0	0	0.105934	0	12	58				
MCCC1	56922	broad.mit.edu	37	3	182789047	182789047	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182789047C>G	uc003fle.2	-	6	727	c.590G>C	c.(589-591)AGA>ACA	p.R197T	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R80T|MCCC1_uc003flg.2_Missense_Mutation_p.R88T|MCCC1_uc011bqp.1_Missense_Mutation_p.R150T|MCCC1_uc011bqq.1_Missense_Mutation_p.R88T	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	197	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATAGCCAATTCTCCTGGCGTG	0.483		NaN											0	0	0	0.125774	0	30	75				
MCCC1	56922	broad.mit.edu	37	3	182790262	182790262	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182790262C>G	uc003fle.2	-	5	520	c.383G>C	c.(382-384)GGA>GCA	p.G128A	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.G19A|MCCC1_uc011bqp.1_Missense_Mutation_p.G81A|MCCC1_uc011bqq.1_Missense_Mutation_p.G19A	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	128	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AAAACCGCATCCTGGATGGAT	0.398		NaN											0	0	0	0.02938	0	7	39				
AHSG	197	broad.mit.edu	37	3	186337720	186337720	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:186337720C>G	uc003fqk.3	+	6	831	c.750C>G	c.(748-750)TTC>TTG	p.F250L	AHSG_uc003fql.3_Missense_Mutation_p.F251L|AHSG_uc003fqm.3_Missense_Mutation_p.F249L|AHSG_uc010hyp.2_Missense_Mutation_p.F213L	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	250	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCATGGTGTTCCAAACACAGG	0.458		NaN											0	0	0	0.038395	0	16	49				
TNK2	10188	broad.mit.edu	37	3	195594701	195594701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:195594701G>C	uc003fvu.1	-	12	2966	c.2423C>G	c.(2422-2424)TCA>TGA	p.S808*	TNK2_uc003fvq.1_Nonsense_Mutation_p.S215*|TNK2_uc003fvr.1_Nonsense_Mutation_p.S333*|TNK2_uc003fvs.1_Nonsense_Mutation_p.S840*|TNK2_uc003fvt.1_Nonsense_Mutation_p.S886*|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	808	Pro-rich.|EBD domain (By similarity).			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGTGAGCTTGAGAGCCGGGG	0.711		NaN											0	0	0	0.038147	0	7	41				
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:3441290C>T	uc003ggw.2	+	18	5127	c.4223C>T	c.(4222-4224)GCT>GTT	p.A1408V	RGS12_uc003ggz.2_Missense_Mutation_p.A760V|RGS12_uc003gha.2_Missense_Mutation_p.A750V|RGS12_uc010icv.2_Missense_Mutation_p.A607V|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662		NaN											0	0	0	0.021553	0	6	24				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:9784028T>C	uc003gmb.3	+	1	771	c.375T>C	c.(373-375)ACT>ACC	p.T125T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	125	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622		NaN											0	0	0	0.115264	0	3	27				
C4orf19	55286	broad.mit.edu	37	4	37592524	37592524	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:37592524G>A	uc003gsw.3	+	4	1030	c.847G>A	c.(847-849)GGG>AGG	p.G283R	RELL1_uc003gsz.2_3'UTR|C4orf19_uc003gsy.3_Missense_Mutation_p.G283R	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	283											0						CGATGGAGATGGGGATGGGGA	0.532		NaN											0	0	0	0.139131	0	68	92				
EXOC1	55763	broad.mit.edu	37	4	56768625	56768625	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:56768625G>A	uc003hbe.1	+	18	2611	c.2453G>A	c.(2452-2454)GGA>GAA	p.G818E	EXOC1_uc003hbf.1_Missense_Mutation_p.G818E|EXOC1_uc003hbg.1_Missense_Mutation_p.G803E	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	818					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GAGTACCCTGGAAAGGAAGTA	0.388		NaN											0	0	0	0.058154	0	10	46				
POLR2B	5431	broad.mit.edu	37	4	57860643	57860643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:57860643C>T	uc003hcl.1	+	4	360	c.317C>T	c.(316-318)TCA>TTA	p.S106L	POLR2B_uc011cae.1_Missense_Mutation_p.S99L|POLR2B_uc011caf.1_Missense_Mutation_p.S31L	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GGTGCTCCTTCACCAATGATG	0.338		NaN											0	0	0	0.038147	0	8	24				
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:62845433C>G	uc010ihh.2	+	15	2927	c.2754C>G	c.(2752-2754)ATC>ATG	p.I918M	LPHN3_uc003hcq.3_Missense_Mutation_p.I918M|LPHN3_uc003hct.2_Missense_Mutation_p.I311M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	905	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ACCTCTGCATCAGTCTCTTTG	0.458		NaN											0	0	0	0.11911	0	13	184				
TET2	54790	broad.mit.edu	37	4	106156981	106156981	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:106156981G>A	uc003hxk.2	+	3	2268	c.1882G>A	c.(1882-1884)GAG>AAG	p.E628K	TET2_uc011cez.1_Missense_Mutation_p.E649K|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E628K|TET2_uc003hxi.1_Missense_Mutation_p.E628K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	628	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L590_H650del(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACACAGCTGGAGCACAAGTC	0.478		NaN	Mis N|F		MDS								0	0	0	0.014758	0	5	29				
KIAA1109	84162	broad.mit.edu	37	4	123277009	123277009	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:123277009G>C	uc003ieh.2	+	81	14409	c.14364G>C	c.(14362-14364)AAG>AAC	p.K4788N	KIAA1109_uc003iem.2_Missense_Mutation_p.K1144N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4788					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTACTGTGAAGAATTCTAGTT	0.363		NaN											0	0	0	0.043863	0	19	29				
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:159547979G>A	uc003ipz.2	+	10	845	c.763G>A	c.(763-765)GAA>AAA	p.E255K	RXFP1_uc010iqj.1_Missense_Mutation_p.E84K|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255K|RXFP1_uc011cjb.1_Missense_Mutation_p.E201K|RXFP1_uc010iqk.2_Missense_Mutation_p.E123K|RXFP1_uc011cjc.1_Missense_Mutation_p.E174K|RXFP1_uc011cjd.1_Missense_Mutation_p.E174K|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282K|RXFP1_uc010iqm.2_Missense_Mutation_p.E222K|RXFP1_uc011cjf.1_Missense_Mutation_p.E125K|RXFP1_uc010iqn.2_Missense_Mutation_p.E201K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255	Extracellular (Potential).|LRR 5.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264		NaN											0	0	0	0.069234	0	10	14				
KIAA0947	23379	broad.mit.edu	37	5	5489267	5489267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:5489267C>T	uc003jdm.3	+	19	6847	c.6625C>T	c.(6625-6627)CCA>TCA	p.P2209S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2209										ovary(1)|central_nervous_system(1)	2						TTCAGATATACCATGGGGTAT	0.383		NaN											0	0	0	0.038147	0	7	42				
ADAMTS12	81792	broad.mit.edu	37	5	33683979	33683979	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:33683979G>A	uc003jia.1	-	4	979	c.816C>T	c.(814-816)CTC>CTT	p.L272L	ADAMTS12_uc010iuq.1_Silent_p.L272L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	272	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCATGATGGTGAGGATGTAGG	0.468		NaN								HNSCC(64;0.19)			0	0	0	0.050027	0	30	83				
MCTP1	79772	broad.mit.edu	37	5	94248593	94248593	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:94248593C>T	uc003kkx.2	-	9	1439	c.1439G>A	c.(1438-1440)AGA>AAA	p.R480K	MCTP1_uc003kkv.2_Missense_Mutation_p.R259K|MCTP1_uc003kkw.2_Missense_Mutation_p.R213K|MCTP1_uc003kkz.2_Missense_Mutation_p.R141K|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	480	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTGAGGTCTCTCCCTTCAAT	0.468		NaN											0	0	0	0.139131	0	56	39				
RGMB	285704	broad.mit.edu	37	5	98115321	98115321	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:98115321A>G	uc003knc.2	+	4	699	c.297A>G	c.(295-297)AAA>AAG	p.K99K	RGMB_uc003knb.2_Silent_p.K99K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	58					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAATCCAGAAATGCACCACGG	0.493		NaN											0	0	0	0.139131	0	91	82				
RAD50	10111	broad.mit.edu	37	5	131925368	131925368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925368G>C	uc003kxi.2	+	9	1678	c.1291G>C	c.(1291-1293)GAG>CAG	p.E431Q	RAD50_uc003kxh.2_Missense_Mutation_p.E292Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	431	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGATAGATGAGATAAGAGA	0.284		NaN						Homologous_recombination					0	0	0	0.038147	0	7	20				
RAD50	10111	broad.mit.edu	37	5	131925439	131925439	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925439G>A	uc003kxi.2	+	9	1749	c.1362G>A	c.(1360-1362)CAG>CAA	p.Q454Q	RAD50_uc003kxh.2_Silent_p.Q315Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	454	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGAAGCAGAATGAGCTGA	0.353		NaN						Homologous_recombination					0	0	0	0.080935	0	10	18				
RAD50	10111	broad.mit.edu	37	5	131925448	131925448	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925448G>A	uc003kxi.2	+	9	1758	c.1371G>A	c.(1369-1371)CTG>CTA	p.L457L	RAD50_uc003kxh.2_Silent_p.L318L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	457	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAATGAGCTGAAAAATGTGA	0.343		NaN						Homologous_recombination					0	0	0	0.080935	0	10	21				
RAD50	10111	broad.mit.edu	37	5	131925479	131925479	+	Missense_Mutation	SNP	G	G	A	rs145031602	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925479G>A	uc003kxi.2	+	9	1789	c.1402G>A	c.(1402-1404)GAA>AAA	p.E468K	RAD50_uc003kxh.2_Missense_Mutation_p.E329K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	468	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGCAGTTGGAAGGATCTTC	0.318		NaN						Homologous_recombination					0	0	0	0.132662	0	11	18				
SIL1	64374	broad.mit.edu	37	5	138386694	138386694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:138386694G>A	uc003ldm.2	-	3	303	c.286C>T	c.(286-288)CAG>TAG	p.Q96*	SIL1_uc003ldn.2_Nonsense_Mutation_p.Q95*|SIL1_uc003ldo.2_Nonsense_Mutation_p.Q96*|SIL1_uc003ldp.2_Nonsense_Mutation_p.Q96*	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	96	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCCAGTCTGAAGATTCAGC	0.493		NaN							Marinesco-Sj_gren_syndrome				0	0	0	0.139131	0	47	82				
PCDHGA1	56114	broad.mit.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140711698G>A	uc003lji.1	+	1	1447	c.1447G>A	c.(1447-1449)GAG>AAG	p.E483K	PCDHGA1_uc011dan.1_Missense_Mutation_p.E483K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCAATGAGAATGCACA	0.537		NaN											0	0	0	0.092188	0	39	97				
PCDHGA5	56110	broad.mit.edu	37	5	140745310	140745310	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140745310C>G	uc003lju.1	+	1	1413	c.1413C>G	c.(1411-1413)ATC>ATG	p.I471M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.I471M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	471	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTCTATCTTCTCTGTGA	0.542		NaN											0	0	0	0.054565	0	33	120				
PCDHGA8	9708	broad.mit.edu	37	5	140772943	140772943	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140772943G>C	uc003lkd.1	+	1	1461	c.563G>C	c.(562-564)GGA>GCA	p.G188A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G188A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	188	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGAGCCATAAAC	0.632		NaN											0	0	0	0.080935	0	12	32				
PECI	10455	broad.mit.edu	37	6	4131046	4131046	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:4131046G>A	uc003mwf.2	-	3	304	c.267C>T	c.(265-267)AAC>AAT	p.N89N	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Silent_p.N59N|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	89	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATTTGGCCTTGTTGATCAAGT	0.448		NaN											0	0	0	0.117977	0	39	139				
DSP	1832	broad.mit.edu	37	6	7583321	7583321	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:7583321C>A	uc003mxp.1	+	24	6105	c.5826C>A	c.(5824-5826)CTC>CTA	p.L1942L	DSP_uc003mxq.1_Silent_p.L1343L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1942	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGATAAACTCAGACAGCGCC	0.522		NaN											1	0	8.24728e-16	0.099896	9.79503e-16	26	52				
HIVEP1	3096	broad.mit.edu	37	6	12123020	12123020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:12123020G>A	uc003nac.2	+	4	3171	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	998					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAGAACCTGAGCACAGCCC	0.463		NaN											0	0	0	0.038147	0	7	209				
NOL7	51406	broad.mit.edu	37	6	13620657	13620657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:13620657C>T	uc003naz.2	+	7	672	c.640C>T	c.(640-642)CTT>TTT	p.L214F		NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	214						mitochondrion|nucleolus					0	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GTTCCTGTCTCTTGCCAACAA	0.333		NaN											0	0	0	0.038395	0	15	53				
CAP2	10486	broad.mit.edu	37	6	17426839	17426839	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:17426839A>G	uc003ncb.2	+	3	383	c.140A>G	c.(139-141)GAA>GGA	p.E47G	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.E47G|CAP2_uc011djb.1_Missense_Mutation_p.E47G|CAP2_uc011djc.1_Missense_Mutation_p.E47G|CAP2_uc011djd.1_Missense_Mutation_p.E47G	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	47					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCCTCCGTGGAAGCCTTTGAC	0.448		NaN											0	0	0	0.059317	0	30	56				
TRIM38	10475	broad.mit.edu	37	6	25972225	25972225	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:25972225G>A	uc003nfm.2	+	5	1071	c.636G>A	c.(634-636)CTG>CTA	p.L212L	TRIM38_uc003nfn.2_Silent_p.L194L|TRIM38_uc010jqd.2_5'Flank	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	212					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						TGAGTAGACTGAGGGACTATG	0.488		NaN											0	0	0	0.144211	0	32	58				
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26031885C>G	uc003nfs.1	-	1	404	c.404G>C	c.(403-405)AGA>ACA	p.R135T		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CATTTACGCTCTTTCTCCGCG	0.453		NaN											0	0	0	0.049695	0	20	71				
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26123851C>T	uc003ngk.3	-	1	304	c.282G>A	c.(280-282)GAG>GAA	p.E94E	HIST1H2BC_uc003ngl.2_Silent_p.E94E|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						CCGTCTGGATCTCCCTGGAGG	0.597		NaN											0	0	0	0.083992	0	24	153				
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:29576387G>A	uc003nmt.3	-	16	2319	c.1983C>T	c.(1981-1983)TTC>TTT	p.F661F	GABBR1_uc003nmp.3_Silent_p.F544F|GABBR1_uc003nms.3_Silent_p.F544F|GABBR1_uc003nmu.3_Silent_p.F599F|GABBR1_uc011dlr.1_Silent_p.F484F|GABBR1_uc011dls.1_3'UTR	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	661	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CCTGGCAGACGAAAGGAAACT	0.547		NaN											0	0	0	0.132662	0	15	73				
LSM2	57819	broad.mit.edu	37	6	31766264	31766264	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31766264G>A	uc003nxg.2	-	3	301	c.92C>T	c.(91-93)TCT>TTT	p.S31F	VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated	31					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding				0						CTGATCCACAGAATGGAGGGT	0.473		NaN											0	0	0	0.125774	0	28	55				
EHMT2	10919	broad.mit.edu	37	6	31847893	31847893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31847893C>G	uc003nxz.1	-	28	3611	c.3601G>C	c.(3601-3603)GAG>CAG	p.E1201Q	EHMT2_uc003nxv.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxw.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxx.1_Missense_Mutation_p.E399Q|EHMT2_uc003nxy.1_Missense_Mutation_p.E999Q|EHMT2_uc011don.1_Missense_Mutation_p.E1224Q|EHMT2_uc003nya.1_Missense_Mutation_p.E1167Q|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1201					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GAGCCGAGCTCGGGCAGCAGC	0.652		NaN											0	0	0	0.014758	0	5	45				
ZBTB12	221527	broad.mit.edu	37	6	31867740	31867740	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31867740T>A	uc003nyd.1	-	2	1519	c.1343A>T	c.(1342-1344)GAG>GTG	p.E448V	EHMT2_uc011don.1_5'Flank|EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACACTGGCCTCCAGCACGTT	0.652		NaN											0	0	0	0.045705	0	30	42				
C6orf10	10665	broad.mit.edu	37	6	32261160	32261160	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261160C>G	uc011dpy.1	-	12	1463	c.1290G>C	c.(1288-1290)AAG>AAC	p.K430N	C6orf10_uc011dpx.1_Missense_Mutation_p.K212N	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	430						integral to membrane				skin(1)	1						CTGCCTCAGTCTTCTCTACTT	0.468		NaN											0	0	0	0.069456	0	39	213				
C6orf10	10665	broad.mit.edu	37	6	32261600	32261600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261600C>G	uc011dpy.1	-	12	1023	c.850G>C	c.(850-852)GAG>CAG	p.E284Q	C6orf10_uc011dpx.1_Missense_Mutation_p.E66Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	284						integral to membrane				skin(1)	1						TTGTCTTTCTCTAAATCAGTG	0.388		NaN											0	0	0	0.038147	0	8	280				
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:33283569G>A	uc003oeb.2	-	2	1277	c.1125C>T	c.(1123-1125)GTC>GTT	p.V375V	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.V375V	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACAGAAGTTGACCTGCTCCT	0.602		NaN											0	0	0	0.125774	0	28	131				
C6orf222	389384	broad.mit.edu	37	6	36298448	36298448	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:36298448G>C	uc003oly.2	-	2	198	c.20C>G	c.(19-21)CCA>CGA	p.P7R		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	7										skin(2)|ovary(1)|breast(1)	4						GGGCCTCCTTGGGCACCTTGG	0.478		NaN											0	0	0	0.11911	0	12	80				
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:38840895C>G	uc003ooe.1	+	49	7400	c.6800C>G	c.(6799-6801)TCT>TGT	p.S2267C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATCAGCAGCTCTGCTCTCAGC	0.502		NaN											0	0	0	0.083992	0	22	94				
TCTE1	202500	broad.mit.edu	37	6	44254253	44254253	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:44254253C>T	uc003oxi.2	-	3	450	c.294G>A	c.(292-294)AAG>AAA	p.K98K	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	98										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGCATCTGCTTCAGGATAG	0.582		NaN											0	0	0	0.049695	0	20	112				
SNAP91	9892	broad.mit.edu	37	6	84303326	84303326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:84303326G>C	uc011dze.1	-	17	1884	c.1567C>G	c.(1567-1569)CCT>GCT	p.P523A	SNAP91_uc011dzd.1_Missense_Mutation_p.P26A|SNAP91_uc003pkb.2_Missense_Mutation_p.P486A|SNAP91_uc003pkc.2_Missense_Mutation_p.P521A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P521A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	523	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		gcaggagaaggagcagTTGCG	0.264		NaN											0	0	0	0.014758	0	3	6				
AIM1	202	broad.mit.edu	37	6	106968294	106968294	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:106968294C>G	uc003prh.2	+	2	2474	c.1987C>G	c.(1987-1989)CAA>GAA	p.Q663E		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	663							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCACTCCTCAAAGGCCAGA	0.493		NaN											0	0	0	0.146539	0	16	68				
RFX6	222546	broad.mit.edu	37	6	117241560	117241560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:117241560C>G	uc003pxm.2	+	12	1333	c.1270C>G	c.(1270-1272)CAA>GAA	p.Q424E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	424					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CATTGGCTCTCAAGCCCTTCT	0.383		NaN											0	0	0	0.108266	0	27	123				
C6orf204	387119	broad.mit.edu	37	6	118845073	118845073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:118845073C>G	uc003pxz.1	-	4	1619	c.1031G>C	c.(1030-1032)GGA>GCA	p.G344A	C6orf204_uc003pya.1_Missense_Mutation_p.G347A|C6orf204_uc003pyb.2_Missense_Mutation_p.G344A|C6orf204_uc011ebj.1_Missense_Mutation_p.G242A|C6orf204_uc003pyc.2_Missense_Mutation_p.G347A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	344						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		ACGAGATGATCCAGTCAAAAC	0.269		NaN											0	0	0	0.062417	0	18	77				
MAP7	9053	broad.mit.edu	37	6	136667001	136667001	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:136667001C>T	uc003qgz.2	-	17	2478	c.2232G>A	c.(2230-2232)CAG>CAA	p.Q744Q	MAP7_uc011edf.1_Silent_p.Q729Q|MAP7_uc011edg.1_Silent_p.Q774Q|MAP7_uc010kgu.2_Silent_p.Q766Q|MAP7_uc011edh.1_Silent_p.Q729Q|MAP7_uc010kgv.2_Silent_p.Q766Q|MAP7_uc010kgs.2_Silent_p.Q598Q|MAP7_uc011edi.1_Silent_p.Q598Q|MAP7_uc010kgq.1_Silent_p.Q650Q|MAP7_uc003qha.1_Silent_p.Q707Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	744					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TACCTGCAGTCTGCTGTGTCT	0.488		NaN											0	0	0	0.047766	0	8	31				
MTRF1L	54516	broad.mit.edu	37	6	153316427	153316427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:153316427C>A	uc003qpi.3	-	3	472	c.367G>T	c.(367-369)GAA>TAA	p.E123*	MTRF1L_uc003qpl.3_Nonsense_Mutation_p.E123*|MTRF1L_uc011efa.1_Nonsense_Mutation_p.E123*|MTRF1L_uc003qpj.3_5'UTR|MTRF1L_uc003qpk.3_Nonsense_Mutation_p.E123*	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	123						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCATCTGTTTCTTCTGAGGGA	0.294		NaN											1	0	0.00198382	0.02938	0.00224765	5	18				
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:160431725C>A	uc003qta.2	+	4	569	c.421C>A	c.(421-423)CCT>ACT	p.P141T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	141	1.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGGAACTCCTGAATTTGT	0.333		NaN											1	0	9.70103e-10	0.069234	1.13094e-09	9	33				
MAP3K4	4216	broad.mit.edu	37	6	161527688	161527688	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:161527688C>G	uc003qtn.2	+	20	4141	c.3999C>G	c.(3997-3999)CAC>CAG	p.H1333Q	MAP3K4_uc010kkc.1_Missense_Mutation_p.H1329Q|MAP3K4_uc003qto.2_Missense_Mutation_p.H1283Q|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.H786Q|MAP3K4_uc003qtp.2_Missense_Mutation_p.H269Q|MAP3K4_uc003qtq.2_Missense_Mutation_p.H22Q	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1333					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGTTATGCACGTTGGCTTGA	0.398		NaN											0	0	0	0.014758	0	4	47				
RADIL	55698	broad.mit.edu	37	7	4917471	4917471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:4917471G>T	uc003snj.1	-	2	473	c.300C>A	c.(298-300)TAC>TAA	p.Y100*	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	100	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGTCCAGGGCGTACCGCTCCA	0.682		NaN											1	0	2.61681e-11	0.11911	3.08311e-11	14	95				
DNAH11	8701	broad.mit.edu	37	7	21920409	21920409	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:21920409G>A	uc003svc.2	+	76	12337	c.12306G>A	c.(12304-12306)CTG>CTA	p.L4102L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4102	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGGGAGACTGAGGTTTGGCC	0.478		NaN							Kartagener_syndrome				0	0	0	0.092188	0	39	117				
MGC87042	256227	broad.mit.edu	37	7	22533267	22533267	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:22533267C>T	uc003svh.2	-	3	313	c.216G>A	c.(214-216)CTG>CTA	p.L72L	MGC87042_uc010kum.1_Silent_p.L91L			Q6NZ63	STEAL_HUMAN	SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;	72	Helical; (Potential).					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0						TTACTTCCCTCAGAAGAGTGT	0.403		NaN											0	0	0	0.132662	0	12	86				
C7orf30	115416	broad.mit.edu	37	7	23349004	23349004	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:23349004G>C	uc003swd.1	+	4	579	c.547G>C	c.(547-549)GAA>CAA	p.E183Q	C7orf30_uc003swe.2_RNA	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	183						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			GATGCTTCCAGAAACCAGAGA	0.388		NaN											0	0	0	0.043863	0	18	93				
PPP1R9A	55607	broad.mit.edu	37	7	94919414	94919414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:94919414G>A	uc003unp.2	+	16	3378	c.3096G>A	c.(3094-3096)ATG>ATA	p.M1032I	PPP1R9A_uc010lfj.2_Missense_Mutation_p.M1308I|PPP1R9A_uc011kif.1_Missense_Mutation_p.M1230I|PPP1R9A_uc003unq.2_Missense_Mutation_p.M1187I|PPP1R9A_uc011kig.1_Missense_Mutation_p.M1024I|PPP1R9A_uc003unr.2_Missense_Mutation_p.M321I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1032	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCTTGGAATGACAGCATCCC	0.413		NaN								HNSCC(28;0.073)			0	0	0	0.080935	0	11	51				
LAMB4	22798	broad.mit.edu	37	7	107674733	107674733	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:107674733G>C	uc010ljo.1	-	31	4822	c.4738C>G	c.(4738-4740)CAA>GAA	p.Q1580E	LAMB4_uc003vey.2_Missense_Mutation_p.Q1580E|LAMB4_uc010ljp.1_Missense_Mutation_p.Q549E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1580	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGAGTGATTTGAGCTTGTTGT	0.328		NaN											0	0	0	0.11126	0	42	81				
POT1	25913	broad.mit.edu	37	7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:124503594G>A	uc003vlm.2	-	8	957	c.356C>T	c.(355-357)TCA>TTA	p.S119L	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	119					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						ATACTTGCTTGAAGTGCGAGG	0.423		NaN											0	0	0	0.105934	0	14	102				
NUP205	23165	broad.mit.edu	37	7	135262738	135262738	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:135262738C>T	uc003vsw.2	+	6	874	c.843C>T	c.(841-843)ATC>ATT	p.I281I	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	281					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTTTTGATATCAGTTTTATAG	0.363		NaN											0	0	0	0.069234	0	10	52				
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:143701978G>T	uc003wdt.1	+	1	889	c.889G>T	c.(889-891)GAA>TAA	p.E297*		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433		NaN											1	0	1.02788e-11	0.0333	1.21427e-11	16	64				
ABP1	26	broad.mit.edu	37	7	150554983	150554983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:150554983G>A	uc003why.1	+	3	5643	c.1425G>A	c.(1423-1425)ATG>ATA	p.M475I	ABP1_uc003whz.1_Missense_Mutation_p.M475I|ABP1_uc003wia.1_Missense_Mutation_p.M475I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	475					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	ACGGGGTGATGGAGGCCAAGA	0.577		NaN											0	0	0	0.086207	0	38	71				
TRIM35	23087	broad.mit.edu	37	8	27168708	27168708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:27168708G>C	uc003xfl.1	-	1	127	c.45C>G	c.(43-45)TTC>TTG	p.F15L	PTK2B_uc003xfn.1_5'Flank|PTK2B_uc003xfo.1_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.F15L|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	15					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACTCCTCCTTGAAGGAGCGGG	0.706		NaN											0	0	0	0.021553	0	5	5				
TRAM1	23471	broad.mit.edu	37	8	71508503	71508503	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:71508503C>G	uc003xyo.1	-	5	650	c.480G>C	c.(478-480)CTG>CTC	p.L160L	TRAM1_uc011lfc.1_Silent_p.L129L	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	160	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTTACGTCATCAGGTTATGGG	0.363		NaN											0	0	0	0.038395	0	19	79				
KCNB2	9312	broad.mit.edu	37	8	73848919	73848919	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:73848919C>T	uc003xzb.2	+	3	1917	c.1329C>T	c.(1327-1329)GCC>GCT	p.A443A		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	443	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTGAGCGGGCCAAAAGGAACG	0.458		NaN											0	0	0	0.069288	0	21	95				
FABP9	646480	broad.mit.edu	37	8	82373707	82373707	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:82373707C>G	uc011lfo.1	-	1	52	c.52G>C	c.(52-54)GAG>CAG	p.E18Q		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	18							lipid binding|transporter activity				0			Epithelial(68;0.186)			ATGTAATCCTCAAAGTTTTCA	0.393		NaN											0	0	0	0.116897	0	26	127				
TMEM67	91147	broad.mit.edu	37	8	94767171	94767171	+	Missense_Mutation	SNP	C	C	T	rs146838062		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:94767171C>T	uc011lgk.1	+	1	100	c.29C>T	c.(28-30)GCA>GTA	p.A10V	TMEM67_uc010mau.2_Missense_Mutation_p.A10V|TMEM67_uc010mav.2_Missense_Mutation_p.A10V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.A10V|TMEM67_uc003yga.3_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	10	Helical; (Potential).				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGGGGTGGCAATGGCGGTT	0.642		NaN											0	0	0	0.099896	0	23	107				
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:105463544C>T	uc003yly.3	-	2	482	c.353G>A	c.(352-354)CGA>CAA	p.R118Q		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522		NaN											0	0	0	0.02938	0	7	42				
RECQL4	9401	broad.mit.edu	37	8	145737627	145737627	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145737627C>T	uc003zdj.2	-	19	3168	c.3136G>A	c.(3136-3138)GAG>AAG	p.E1046K		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1046					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	0.105934	0	11	37				
ARHGAP39	80728	broad.mit.edu	37	8	145770988	145770988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145770988C>G	uc003zdt.1	-	7	2721	c.2166G>C	c.(2164-2166)TGG>TGC	p.W722C	ARHGAP39_uc011llk.1_Missense_Mutation_p.W722C|ARHGAP39_uc003zds.1_Missense_Mutation_p.W722C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	722	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						ACTCGCTGCTCCAGGCCAGCA	0.592		NaN											0	0	0	0.09319	0	12	33				
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:6592946C>G	uc003zkc.2	-	10	1499	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507		NaN											0	0	0	0.038395	0	18	90				
MPDZ	8777	broad.mit.edu	37	9	13176368	13176368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:13176368G>C	uc010mia.1	-	19	2755	c.2698C>G	c.(2698-2700)CTG>GTG	p.L900V	MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Missense_Mutation_p.L900V|MPDZ_uc010mhz.2_Missense_Mutation_p.L900V|MPDZ_uc011lmn.1_Missense_Mutation_p.L900V|MPDZ_uc003zlb.3_Missense_Mutation_p.L900V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	900					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTCCTCCAGAGACATATGC	0.378		NaN											0	0	0	0.009096	0	4	26				
ZCCHC7	84186	broad.mit.edu	37	9	37126696	37126696	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:37126696C>T	uc003zzq.2	+	2	540	c.367C>T	c.(367-369)CTT>TTT	p.L123F	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.L122F|ZCCHC7_uc010mlt.2_Missense_Mutation_p.L122F|ZCCHC7_uc003zzs.1_Missense_Mutation_p.L122F	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	123							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TTCTTCTTCTCTTCAATCTAA	0.368		NaN											0	0	0	0.083992	0	25	196				
TRPM3	80036	broad.mit.edu	37	9	73230868	73230868	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:73230868C>G	uc004aid.2	-	17	2690	c.2446G>C	c.(2446-2448)GAG>CAG	p.E816Q	TRPM3_uc004ahu.2_Missense_Mutation_p.E646Q|TRPM3_uc004ahv.2_Missense_Mutation_p.E618Q|TRPM3_uc004ahw.2_Missense_Mutation_p.E688Q|TRPM3_uc004ahx.2_Missense_Mutation_p.E675Q|TRPM3_uc004ahy.2_Missense_Mutation_p.E678Q|TRPM3_uc004ahz.2_Missense_Mutation_p.E665Q|TRPM3_uc004aia.2_Missense_Mutation_p.E663Q|TRPM3_uc004aib.2_Missense_Mutation_p.E653Q|TRPM3_uc004aic.2_Missense_Mutation_p.E816Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	841	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GTGGGCTTCTCTGGTTCTTCT	0.458		NaN											0	0	0	0.062417	0	21	77				
ALG2	85365	broad.mit.edu	37	9	101980827	101980827	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:101980827C>T	uc004azf.2	-	2	710	c.640G>A	c.(640-642)GAA>AAA	p.E214K	ALG2_uc004azg.2_Missense_Mutation_p.E121K	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	214					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				TCCAGCTTTTCAGGAACAACT	0.448		NaN											0	0	0	0.0918	0	26	69				
ORM2	5005	broad.mit.edu	37	9	117093120	117093120	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:117093120G>A	uc004bil.2	+	3	422	c.306G>A	c.(304-306)GAG>GAA	p.E102E	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	102				E -> D (in Ref. 3; BAG35159).	acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)				TCCAGCGGGAGAATGGGACCG	0.542		NaN											0	0	0	0.064281	0	32	18				
SETX	23064	broad.mit.edu	37	9	135205429	135205429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135205429G>A	uc004cbk.2	-	10	1739	c.1556C>T	c.(1555-1557)TCT>TTT	p.S519F	SETX_uc004cbj.2_Missense_Mutation_p.S138F|SETX_uc010mzt.2_Missense_Mutation_p.S138F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	519					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACAGTGAAGATATCATTGC	0.448		NaN											0	0	0	0.014758	0	5	142				
TSC1	7248	broad.mit.edu	37	9	135778175	135778175	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135778175C>G	uc004cca.2	-	18	2443	c.2209_splice	c.e18-1	p.K737_splice	TSC1_uc004ccb.3_Splice_Site_p.K736_splice|TSC1_uc011mcq.1_Splice_Site_p.K686_splice|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGATCTTTCTAGCAGAGAC	0.423		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.117977	0	45	24		Valid		
SEC16A	9919	broad.mit.edu	37	9	139358996	139358996	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139358996G>A	uc004chx.2	-	9	4631	c.4322C>T	c.(4321-4323)TCT>TTT	p.S1441F	SEC16A_uc004chv.3_Missense_Mutation_p.S831F|SEC16A_uc004chw.2_Missense_Mutation_p.S1441F|SEC16A_uc010nbn.2_Missense_Mutation_p.S1441F	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1263					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTTCAGGAGAAGTTGGTCT	0.438		NaN											0	0	0	0.132662	0	16	44				
C9orf172	389813	broad.mit.edu	37	9	139739870	139739870	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139739870C>T	uc011meh.1	+	1	1004	c.1004C>T	c.(1003-1005)CCA>CTA	p.P335L	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	335	Pro-rich.										0						CGCACCTTCCCAATCCAGGAA	0.692		NaN											0	0	0	0.021553	0	6	22				
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139741083C>G	uc011meh.1	+	1	2217	c.2217C>G	c.(2215-2217)ATC>ATG	p.I739M	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739											0						TCTCGCGCATCGCGCGTGTCG	0.706		NaN											0	0	0	0.021553	0	6	11				
NRARP	441478	broad.mit.edu	37	9	140196037	140196037	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:140196037C>T	uc004cmo.2	-	1	667	c.344G>A	c.(343-345)TGA>TAA	p.*115*	C9orf167_uc011mew.1_Intron	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	115					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway						0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGGCGGGCATCACCGGCCGCT	0.731		NaN											0	0	0	0.009096	0	4	6				
SCML2	10389	broad.mit.edu	37	X	18283889	18283889	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:18283889G>A	uc004cyl.2	-	8	921	c.764C>T	c.(763-765)TCT>TTT	p.S255F	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.S255F|SCML2_uc011miz.1_Missense_Mutation_p.S189F|SCML2_uc010nfc.2_5'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	255					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					GGAAGGAGAAGACTCTGTTTT	0.363		NaN											0	0	0	0.069288	0	24	26				
RPGR	6103	broad.mit.edu	37	X	38147258	38147258	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:38147258C>T	uc004ded.1	-	14	1777	c.1609G>A	c.(1609-1611)GCT>ACT	p.A537T	RPGR_uc004deb.2_Missense_Mutation_p.A537T|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	537	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCAGTAAGAGCTGTATCCTGC	0.338		NaN											0	0	0	0.069288	0	23	52				
KDM6A	7403	broad.mit.edu	37	X	44966654	44966654	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:44966654G>A	uc004dge.3	+	27	4254	c.3879_splice	c.e27-1	p.K1293_splice	KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CCCCACAATAGGTATTGTCTT	0.368		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.069288	0	22	21		Valid		
IGBP1	3476	broad.mit.edu	37	X	69353901	69353901	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:69353901C>T	uc004dxv.2	+	1	603	c.104C>T	c.(103-105)TCC>TTC	p.S35F	IGBP1_uc004dxw.2_Missense_Mutation_p.S35F	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	35					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						CCCGCCGGTTCCCGGATAGTC	0.562		NaN									OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.043863	0	14	39				
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:70356862A>C	uc004dyy.2	+	38	5733	c.5534A>C	c.(5533-5535)AAC>ACC	p.N1845T	MED12_uc011mpq.1_Missense_Mutation_p.N1845T|MED12_uc004dyz.2_Missense_Mutation_p.N1845T|MED12_uc004dza.2_Missense_Mutation_p.N1692T|MED12_uc010nla.2_Missense_Mutation_p.N471T	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567		NaN											0	0	0	0.080935	0	4	17				
RBM41	55285	broad.mit.edu	37	X	106359927	106359927	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:106359927C>T	uc004emz.2	-	2	109	c.78G>A	c.(76-78)CTG>CTA	p.L26L	RBM41_uc004emy.1_Silent_p.L26L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	26							nucleotide binding|RNA binding			ovary(1)	1						GGAGGCTTTTCAGCTGCCTCT	0.443		NaN											0	0	0	0.055883	0	18	42				
PGRMC1	10857	broad.mit.edu	37	X	118374364	118374364	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:118374364G>A	uc004erb.2	+	2	537	c.421G>A	c.(421-423)GAC>AAC	p.D141N	PGRMC1_uc011mts.1_Intron	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	141	Cytochrome b5 heme-binding.|Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						TGAGTACGATGACCTTTCTGA	0.483		NaN											0	0	0	0.125774	0	29	97				
GPR101	83550	broad.mit.edu	37	X	136112888	136112888	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:136112888C>T	uc011mwh.1	-	1	946	c.946G>A	c.(946-948)GGC>AGC	p.G316S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	316	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCCATGCTGCCGTCGCTGGCC	0.597		NaN											0	0	0	0.074837	0	39	283				
RNF207	388591	broad.mit.edu	37	1	6270478	6270478	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:6270478G>C	uc001amg.2	+	10	1096	c.922G>C	c.(922-924)GAG>CAG	p.E308Q	RNF207_uc001amh.2_Nonstop_Mutation_p.*196S|RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	308						intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAACAAGGCTGAGTTCCTGGA	0.647		NaN											0	0	0	0.00308	0	6	109				
APITD1	378708	broad.mit.edu	37	1	10500432	10500432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:10500432G>A	uc001are.2	+	4	654	c.238G>A	c.(238-240)GAA>AAA	p.E80K	APITD1_uc001arf.2_Missense_Mutation_p.E80K|APITD1_uc001arg.2_Intron|APITD1_uc001arh.2_Missense_Mutation_p.E41K	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	80					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AATTAACACTGAAGATGTGAA	0.393		NaN											0	0	0	0.001984	0	4	65				
FBXO2	26232	broad.mit.edu	37	1	11708827	11708827	+	Missense_Mutation	SNP	C	C	G	rs149264736		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:11708827C>G	uc001asj.2	-	6	1157	c.815G>C	c.(814-816)GGG>GCG	p.G272A	FBXO2_uc009vna.2_Missense_Mutation_p.G275A	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	F-box only protein 2	272	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity				0	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCCCCCCGTGCTCGAA	0.667		NaN											0	0	0	0.000978	0	9	127				
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:16074093C>T	uc001axc.2	+	6	1136	c.998C>T	c.(997-999)TCG>TTG	p.S333L		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607		NaN											0	0	0	0.000602	0	5	134				
CROCC	9696	broad.mit.edu	37	1	17265447	17265447	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17265447C>G	uc001azt.2	+	12	1487	c.1418C>G	c.(1417-1419)TCT>TGT	p.S473C	CROCC_uc009voy.1_Missense_Mutation_p.S176C|CROCC_uc009voz.1_Missense_Mutation_p.S236C|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	473					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGAGCGGCTCTGAGCGCACC	0.711		NaN											0	0	0	0.008291	0	6	109				
PADI2	11240	broad.mit.edu	37	1	17410286	17410286	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17410286C>G	uc001baf.2	-	9	1067	c.985G>C	c.(985-987)GAG>CAG	p.E329Q	PADI2_uc010ocm.1_Missense_Mutation_p.E213Q|PADI2_uc001bag.1_Missense_Mutation_p.E329Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	329					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGGTTTTCTCCACAAGGTTC	0.542		NaN											0	0	0	0.001855	0	11	124				
TMEM57	55219	broad.mit.edu	37	1	25824881	25824881	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:25824881A>G	uc001bkk.2	+	11	2121	c.1919A>G	c.(1918-1920)TAC>TGC	p.Y640C	TMEM57_uc009vru.2_Missense_Mutation_p.Y413C|TMEM57_uc009vrv.2_Missense_Mutation_p.Y282C	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	640						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTACTCTTCCAAA	0.542		NaN											0	0	0	0.007413	0	16	147				
RCC1	1104	broad.mit.edu	37	1	28863401	28863401	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:28863401G>A	uc001bqg.1	+	9	1165	c.1080G>A	c.(1078-1080)GTG>GTA	p.V360V	SNHG3-RCC1_uc001bqa.1_Silent_p.V360V|SNHG3-RCC1_uc001bqb.1_Silent_p.V360V|SNHG3-RCC1_uc001bqc.1_Silent_p.V360V|RCC1_uc001bqe.1_Silent_p.V377V|RCC1_uc001bqf.1_Silent_p.V391V	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	360	RCC1 6.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGCTGTGACCAAGGATG	0.587		NaN											0	0	0	0.00333	0	21	344				
INPP5B	3633	broad.mit.edu	37	1	38397639	38397639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:38397639G>A	uc001ccg.1	-	7	572	c.478C>T	c.(478-480)CGC>TGC	p.R160C	INPP5B_uc009vvk.1_Missense_Mutation_p.R101C|INPP5B_uc001cch.2_Missense_Mutation_p.R101C|INPP5B_uc001ccf.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACAACCGCGCGGCGTTGGC	0.612		NaN											0	0	0	0.000602	0	5	101				
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40432551G>A	uc001cev.2	+	8	1094	c.913G>A	c.(913-915)GGC>AGC	p.G305S	MFSD2A_uc010ojb.1_Missense_Mutation_p.G253S|MFSD2A_uc001ceu.2_Missense_Mutation_p.G292S|MFSD2A_uc010ojc.1_Missense_Mutation_p.G136S|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	305					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CATGAGCCACGGCCCATACAT	0.562		NaN											0	0	0	0.00245	0	12	188				
CAP1	10487	broad.mit.edu	37	1	40536608	40536608	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40536608C>T	uc001cfa.3	+	12	1530	c.1301C>T	c.(1300-1302)TCT>TTT	p.S434F	CAP1_uc001cey.3_Missense_Mutation_p.S434F|CAP1_uc001cez.3_Missense_Mutation_p.S434F|CAP1_uc009vvz.2_Missense_Mutation_p.S434F|CAP1_uc010oje.1_Missense_Mutation_p.S351F	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	434	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGCCAAATCTTCCGAGATG	0.408		NaN											0	0	0	0.001368	0	10	179				
ZNF643	65243	broad.mit.edu	37	1	40928137	40928137	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40928137G>C	uc001cfn.1	+	5	778	c.481G>C	c.(481-483)GAT>CAT	p.D161H	ZNF643_uc001cfl.1_Missense_Mutation_p.D59H|ZNF643_uc001cfm.1_Missense_Mutation_p.D27H	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			CTTACAGAATGATATTTCGTG	0.323		NaN											0	0	0	0.003163	0	15	162				
B4GALT2	8704	broad.mit.edu	37	1	44450629	44450629	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:44450629C>T	uc001clg.2	+	4	1012	c.642C>T	c.(640-642)TTC>TTT	p.F214F	B4GALT2_uc001clh.2_Silent_p.F148F|B4GALT2_uc010okl.1_Silent_p.F243F|B4GALT2_uc001cli.2_Silent_p.F214F	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	214	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTTCATCTTCAGCGATGTGG	0.587		NaN											0	0	0	0.001168	0	5	108				
AKR1A1	10327	broad.mit.edu	37	1	46027485	46027485	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46027485C>T	uc001cod.2	+	3	483	c.19C>T	c.(19-21)CTA>TTA	p.L7L	AKR1A1_uc009vxw.2_Silent_p.L7L|AKR1A1_uc001coe.2_Silent_p.L7L	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	7					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					TTCCTGTGTTCTACTGCACAC	0.502		NaN											0	0	0	0.003163	0	10	129				
POMGNT1	55624	broad.mit.edu	37	1	46661728	46661728	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46661728C>T	uc001cpe.2	-	5	540	c.376G>A	c.(376-378)GAG>AAG	p.E126K	POMGNT1_uc010olx.1_Missense_Mutation_p.E104K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.E126K|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.E110K	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	126	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGGCCCTGCTCCCGGGCCTCA	0.572		NaN											0	0	0	0.001168	0	6	90				
LRRC41	10489	broad.mit.edu	37	1	46744891	46744891	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46744891C>T	uc001cpn.2	-	9	2226	c.2182G>A	c.(2182-2184)GAG>AAG	p.E728K	LRRC41_uc010omb.1_3'UTR	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	728	LRR 6.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GATGAATCCTCTGAGAAAACA	0.542		NaN											0	0	0	0.00308	0	6	44				
DMRTB1	63948	broad.mit.edu	37	1	53927289	53927289	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:53927289T>C	uc001cvq.1	+	2	776	c.721T>C	c.(721-723)TCC>CCC	p.S241P		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	241	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCGGCATGTGTCCCGCAGCCA	0.662		NaN											0	0	0	0.000602	0	4	73				
LRRC7	57554	broad.mit.edu	37	1	70503871	70503871	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:70503871T>C	uc001dep.2	+	19	2280	c.2250T>C	c.(2248-2250)AAT>AAC	p.N750N	LRRC7_uc009wbg.2_Silent_p.N34N|LRRC7_uc001deq.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	750						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCCAGGCAATATACCACAGC	0.502		NaN											0	0	0	0.007835	0	37	189				
GBP5	115362	broad.mit.edu	37	1	89730587	89730587	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:89730587C>G	uc001dnc.2	-	8	1468	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	GBP5_uc001dnd.2_Missense_Mutation_p.E311Q|GBP5_uc001dne.1_Missense_Mutation_p.E311Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	311						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTGCATTCTCTATGCAAGGC	0.483		NaN											0	0	0	0.001855	0	10	78				
EPHX4	253152	broad.mit.edu	37	1	92515897	92515897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:92515897C>T	uc001don.2	+	5	732	c.628C>T	c.(628-630)CAG>TAG	p.Q210*		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	210						integral to membrane	hydrolase activity			central_nervous_system(1)	1						ACACCCTGCTCAGCTGTTGAA	0.328		NaN											0	0	0	0.001168	0	6	104				
MAGI3	260425	broad.mit.edu	37	1	114128166	114128166	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:114128166T>G	uc001edk.2	+	4	892	c.711T>G	c.(709-711)CCT>CCG	p.P237P	MAGI3_uc001edh.3_Silent_p.P237P|MAGI3_uc001edi.3_Silent_p.P237P|MAGI3_uc010owm.1_Silent_p.P237P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	237	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCTCTTCCTGAAGAGGAAG	0.383		NaN											0	0	0	0.001368	0	11	57				
TBX15	6913	broad.mit.edu	37	1	119427557	119427557	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:119427557C>T	uc001ehl.1	-	8	1604	c.1289G>A	c.(1288-1290)AGC>AAC	p.S430N	TBX15_uc009whj.1_Missense_Mutation_p.S254N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	536						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGAGAGGCGCTCAGTTTTTC	0.522		NaN											0	0	0	0.000602	0	4	43				
ANKRD35	148741	broad.mit.edu	37	1	145561190	145561190	+	Missense_Mutation	SNP	C	C	T	rs80055280	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:145561190C>T	uc001eob.1	+	10	986	c.878C>T	c.(877-879)CCG>CTG	p.P293L	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P136L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGAAGACCCGTGCTCGGAG	0.547		NaN											0	0	0	0.001984	0	6	49				
PLEKHO1	51177	broad.mit.edu	37	1	150131673	150131673	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150131673C>G	uc001ett.2	+	6	1463	c.1185C>G	c.(1183-1185)CTC>CTG	p.L395L	PLEKHO1_uc001etr.2_Silent_p.L223L|PLEKHO1_uc001ets.2_Silent_p.L212L|PLEKHO1_uc001etu.2_Silent_p.L223L	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	395	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCCCACCTCAGACAGACCA	0.587		NaN											0	0	0	0.008291	0	8	41				
C1orf54	79630	broad.mit.edu	37	1	150248191	150248191	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150248191G>C	uc001eud.2	+	3	210	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	C1orf54_uc001euc.2_Missense_Mutation_p.E58Q|C1orf54_uc001eue.2_Missense_Mutation_p.E58Q|C1orf54_uc001euf.2_Missense_Mutation_p.E58Q|C1orf54_uc001eug.2_Missense_Mutation_p.E58Q	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	58						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATATTTGAGTCAGAGGA	0.294		NaN											0	0	0	0.008291	0	9	78				
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015476G>A	uc001ewl.2	+	5	651	c.478G>A	c.(478-480)GAA>AAA	p.E160K	BNIPL_uc009wmi.2_Missense_Mutation_p.E78K|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	160					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.517		NaN											0	0	0	0.003163	0	14	169				
BNIPL	149428	broad.mit.edu	37	1	151015532	151015532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015532G>A	uc001ewl.2	+	5	707	c.534G>A	c.(532-534)TGG>TGA	p.W178*	BNIPL_uc009wmi.2_Nonsense_Mutation_p.W96*|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	178					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACATCACTGGAGGGTGTTCC	0.542		NaN											0	0	0	0.006214	0	7	113				
BNIPL	149428	broad.mit.edu	37	1	151015865	151015865	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015865G>A	uc001ewl.2	+	6	847	c.674G>A	c.(673-675)AGA>AAA	p.R225K	BNIPL_uc009wmi.2_Missense_Mutation_p.R143K|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	225	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCTACCCAGAAGCAGCATC	0.463		NaN											0	0	0	0.008361	0	25	432				
TMOD4	29765	broad.mit.edu	37	1	151147246	151147246	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151147246G>T	uc001exc.3	-	2	296	c.106C>A	c.(106-108)CAG>AAG	p.Q36K	TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.Q36K	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	36					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATCTCCTGTAGTTCGCAG	0.532		NaN											1	0	0.00024832	0.009096	0.000257078	4	46				
FLG	2312	broad.mit.edu	37	1	152282137	152282137	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152282137G>T	uc001ezu.1	-	3	5261	c.5225C>A	c.(5224-5226)CCC>CAC	p.P1742H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1742	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGATGGGGCCCAGCCTG	0.587		NaN							Ichthyosis				1	0	6.3237e-29	0.00361	7.04358e-29	50	456				
FLG	2312	broad.mit.edu	37	1	152287154	152287154	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152287154C>G	uc001ezu.1	-	3	244	c.208G>C	c.(208-210)GAC>CAC	p.D70H	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	70	EF-hand 2.|Potential.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGTGAAGTCAATTTTCTTG	0.408		NaN							Ichthyosis				0	0	0	0.001168	0	5	72				
C1orf189	388701	broad.mit.edu	37	1	154173021	154173021	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154173021C>T	uc001fee.1	-	3	144	c.118G>A	c.(118-120)GGC>AGC	p.G40S		NM_001010979	NP_001010979	Q5VU69	CA189_HUMAN	hypothetical protein LOC388701	40											0	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTCTGGCCCAATGCCATT	0.507		NaN											0	0	0	0.006122	0	15	401				
UBAP2L	9898	broad.mit.edu	37	1	154234112	154234112	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154234112G>A	uc001fep.3	+	24	3008	c.2841G>A	c.(2839-2841)GTG>GTA	p.V947V	UBAP2L_uc009wot.2_Silent_p.V947V|UBAP2L_uc010pek.1_Silent_p.V939V|UBAP2L_uc010pel.1_Silent_p.V957V|UBAP2L_uc010pen.1_Silent_p.V861V|UBAP2L_uc001feq.2_Silent_p.V143V|UBAP2L_uc001fer.2_Silent_p.V143V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	947					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCAGTGTGAATGCATCGG	0.512		NaN											0	0	0	0.006214	0	8	205				
KCNN3	3782	broad.mit.edu	37	1	154698406	154698406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154698406G>A	uc001ffp.2	-	5	2001	c.1687C>T	c.(1687-1689)CAG>TAG	p.Q563*	KCNN3_uc001ffo.2_Nonsense_Mutation_p.Q258*	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	568	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGGTGAGCTGAGTGTCCATC	0.522		NaN											0	0	0	0.001855	0	10	54				
ZBTB7B	51043	broad.mit.edu	37	1	154987500	154987500	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154987500C>T	uc001fgk.3	+	3	522	c.364C>T	c.(364-366)CTC>TTC	p.L122F	ZBTB7B_uc009wpa.2_Missense_Mutation_p.L122F|ZBTB7B_uc001fgj.3_Missense_Mutation_p.L156F|ZBTB7B_uc010peq.1_Missense_Mutation_p.L156F|ZBTB7B_uc001fgl.3_Missense_Mutation_p.L122F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	122					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGCTGTGCTCCAGGCTGC	0.607		NaN											0	0	0	0.006214	0	6	67				
NTRK1	4914	broad.mit.edu	37	1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:156845889C>T	uc001fqh.1	+	13	1575	c.1519C>T	c.(1519-1521)CGC>TGC	p.R507C	NTRK1_uc001fqf.1_Missense_Mutation_p.R471C|NTRK1_uc009wsi.1_Missense_Mutation_p.R206C|NTRK1_uc001fqi.1_Missense_Mutation_p.R501C|NTRK1_uc009wsk.1_Missense_Mutation_p.R504C	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507	Cytoplasmic (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCACATCAAGCGCCGGGACAT	0.602		NaN	T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			0	0	0	0.006122	0	14	187				
KIRREL	55243	broad.mit.edu	37	1	158063421	158063421	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158063421G>C	uc001frn.3	+	13	1992	c.1588G>C	c.(1588-1590)GAC>CAC	p.D530H	KIRREL_uc010pib.1_Missense_Mutation_p.D430H|KIRREL_uc009wsq.2_Missense_Mutation_p.D366H|KIRREL_uc001fro.3_Missense_Mutation_p.D344H|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	530	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					AGGTCGCAAAGACGTGACCCT	0.607		NaN											0	0	0	0.009096	0	3	45				
CD1E	913	broad.mit.edu	37	1	158325252	158325252	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158325252A>G	uc001fse.2	+	3	757	c.518A>G	c.(517-519)AAT>AGT	p.N173S	CD1E_uc010pid.1_Missense_Mutation_p.N171S|CD1E_uc010pie.1_Missense_Mutation_p.N74S|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.N173S|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.N173S|CD1E_uc001fry.2_Missense_Mutation_p.N173S|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.N173S|CD1E_uc009wsv.2_Missense_Mutation_p.N74S|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	173					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					AAAGTGCTCAATCGCTACCTA	0.498		NaN											0	0	0	0.001168	0	5	72				
OR6K3	391114	broad.mit.edu	37	1	158687408	158687408	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158687408C>A	uc010pip.1	-	1	546	c.546G>T	c.(544-546)CTG>CTT	p.L182L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CACAGAAAGGCAGTGTGGAAA	0.512		NaN											1	0	0.00198382	0.001984	0.0020327	7	114				
BLZF1	8548	broad.mit.edu	37	1	169351299	169351299	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:169351299G>A	uc001gfx.1	+	6	1235	c.798_splice	c.e6-1	p.K266_splice	BLZF1_uc001gfy.2_Splice_Site_p.K266_splice|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1						cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					GTTCTATGCAGATTATTGGAG	0.358		NaN											0	0	0	0.010504	0	19	242				
RASAL2	9462	broad.mit.edu	37	1	178423706	178423706	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:178423706G>C	uc001glr.2	+	10	1815	c.1690G>C	c.(1690-1692)GAT>CAT	p.D564H	RASAL2_uc001glq.2_Missense_Mutation_p.D712H|RASAL2_uc009wxc.2_Missense_Mutation_p.D78H	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	564					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CCCAGGCTTTGATGGTTACAT	0.423		NaN											0	0	0	0.00308	0	8	89				
HMCN1	83872	broad.mit.edu	37	1	186094827	186094827	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:186094827A>G	uc001grq.1	+	82	12820	c.12591A>G	c.(12589-12591)ACA>ACG	p.T4197T	HMCN1_uc001grs.1_5'Flank	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4197	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAATCCCCACACCAGCAATTA	0.403		NaN											0	0	0	0.000978	0	7	100				
CRB1	23418	broad.mit.edu	37	1	197390669	197390669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197390669G>A	uc001gtz.2	+	6	1846	c.1711G>A	c.(1711-1713)GAG>AAG	p.E571K	CRB1_uc010poz.1_Missense_Mutation_p.E502K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E459K|CRB1_uc010ppb.1_Missense_Mutation_p.E571K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.E52K|CRB1_uc001gub.1_Missense_Mutation_p.E220K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	571	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GCATTTCGTGGAGGTAATATT	0.448		NaN											0	0	0	0.00308	0	6	159				
DENND1B	163486	broad.mit.edu	37	1	197641247	197641247	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197641247T>G	uc001guf.3	-	5	554	c.216A>C	c.(214-216)GTA>GTC	p.V72V	DENND1B_uc010ppe.1_Silent_p.V72V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.V62V	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	72	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TGTCTGTCAGTACAAAGGTAA	0.358		NaN											0	0	0	0.000978	0	9	43				
CACNA1S	779	broad.mit.edu	37	1	201061110	201061110	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201061110C>T	uc001gvv.2	-	4	758	c.531G>A	c.(529-531)TCG>TCA	p.S177S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	177	Helical; Name=S4 of repeat I; (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGGCACCCCCGACACCAGCC	0.612		NaN											0	0	0	0.00308	0	8	39				
USH2A	7399	broad.mit.edu	37	1	215901707	215901707	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:215901707C>T	uc001hku.1	-	61	12118	c.11731G>A	c.(11731-11733)GAG>AAG	p.E3911K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3911	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGACTCCTCTTCAATGCCA	0.448		NaN								HNSCC(13;0.011)			0	0	0	0.009096	0	4	47				
BPNT1	10380	broad.mit.edu	37	1	220240712	220240712	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:220240712G>C	uc001hma.2	-	6	578	c.406C>G	c.(406-408)CTT>GTT	p.L136V	BPNT1_uc010pug.1_Missense_Mutation_p.L81V|BPNT1_uc010puh.1_Missense_Mutation_p.L100V|BPNT1_uc001hmb.3_Missense_Mutation_p.L136V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		ATTCCAATAAGAACTGTTACA	0.308		NaN											0	0	0	0.001168	0	6	92				
CAPN2	824	broad.mit.edu	37	1	223959545	223959545	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:223959545C>T	uc001hob.3	+	19	2162	c.1938C>T	c.(1936-1938)ATC>ATT	p.I646I	CAPN2_uc010puy.1_Silent_p.I568I|CAPN2_uc001hoc.2_Silent_p.I227I	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	646	Domain IV.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		ACCAAGTCATCGTTGCTCGGT	0.428		NaN											0	0	0	0.00499	0	16	221				
TMEM63A	9725	broad.mit.edu	37	1	226034879	226034879	+	Silent	SNP	C	C	T	rs138912199		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226034879C>T	uc001hpm.1	-	24	2536	c.2286G>A	c.(2284-2286)TCG>TCA	p.S762S		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	762						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CTGTCCTCTCCGAGGCCAAGC	0.597		NaN											0	0	0	0.004007	0	12	198				
PARP1	142	broad.mit.edu	37	1	226564877	226564877	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226564877C>T	uc001hqd.3	-	13	2044	c.1873G>A	c.(1873-1875)GCT>ACT	p.A625T		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	625					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGTGCCAAGCGTTCCCGGTT	0.458		NaN						Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					0	0	0	0.00361	0	84	241				
CDC42BPA	8476	broad.mit.edu	37	1	227261689	227261689	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:227261689A>G	uc001hqr.2	-	19	3554	c.2611T>C	c.(2611-2613)TTT>CTT	p.F871L	CDC42BPA_uc001hqq.2_Missense_Mutation_p.F135L|CDC42BPA_uc001hqs.2_Missense_Mutation_p.F790L|CDC42BPA_uc009xes.2_Missense_Mutation_p.F871L|CDC42BPA_uc010pvs.1_Missense_Mutation_p.F871L|CDC42BPA_uc001hqp.2_Missense_Mutation_p.F27L|CDC42BPA_uc001hqu.1_Missense_Mutation_p.F27L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	871					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCGCAAAACGACGCATT	0.378		NaN											0	0	0	0.00245	0	10	221				
NID1	4811	broad.mit.edu	37	1	236180524	236180524	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:236180524G>A	uc001hxo.2	-	10	2280	c.2178C>T	c.(2176-2178)ATC>ATT	p.I726I	NID1_uc009xgd.2_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	726	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATTATTGCAGATTGTGTGGC	0.438		NaN											0	0	0	0.000978	0	9	208				
ZP4	57829	broad.mit.edu	37	1	238049174	238049174	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:238049174G>A	uc001hym.2	-	7	852	c.852C>T	c.(850-852)AGC>AGT	p.S284S	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	284	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTAGCTGCAGCTGACATGGA	0.478		NaN											0	0	0	0.000602	0	5	68				
FMN2	56776	broad.mit.edu	37	1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:240370862G>A	uc010pyd.1	+	5	2975	c.2750G>A	c.(2749-2751)GGA>GAA	p.G917E	FMN2_uc010pye.1_Missense_Mutation_p.G921E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	917	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTTCCCGGAGCGGGCATA	0.657		NaN											0	0	0	0.008871	0	14	291				
OR13G1	441933	broad.mit.edu	37	1	247836307	247836307	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247836307C>A	uc001idi.1	-	1	37	c.37G>T	c.(37-39)GGC>TGC	p.G13C		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGGTGAGGCCCAGAATAATG	0.413		NaN											1	0	1.01871e-10	0.008871	1.11723e-10	14	78				
OR6F1	343169	broad.mit.edu	37	1	247875997	247875997	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247875997G>C	uc001idj.1	-	1	61	c.61C>G	c.(61-63)CAA>GAA	p.Q21E		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAGAGTTTGAGAACCAGGA	0.473		NaN											0	0	0	0.008871	0	16	207				
OR2T33	391195	broad.mit.edu	37	1	248436919	248436919	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248436919G>A	uc010pzi.1	-	1	198	c.198C>T	c.(196-198)CTC>CTT	p.L66L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGTCCATGAGGGAAAGTT	0.547		NaN											0	0	0	0.000978	0	10	198				
OR2G6	391211	broad.mit.edu	37	1	248685808	248685808	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248685808C>T	uc001ien.1	+	1	861	c.861C>T	c.(859-861)CCC>CCT	p.P287P		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTAAACCCCATTATCTACA	0.448		NaN											0	0	0	0.004007	0	15	45				
GDI2	2665	broad.mit.edu	37	10	5808246	5808246	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:5808246G>A	uc001iil.3	-	10	1440	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	GDI2_uc001iim.3_Silent_p.I338I|GDI2_uc009xid.2_Silent_p.I387I	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	383					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						GGAGGTCACTGATGCTAACAA	0.502		NaN											0	0	0	0.001168	0	5	93				
UPF2	26019	broad.mit.edu	37	10	11994119	11994119	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:11994119C>T	uc001ila.2	-	14	3454	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K	UPF2_uc001ilb.2_Missense_Mutation_p.E994K|UPF2_uc001ilc.2_Missense_Mutation_p.E994K|UPF2_uc009xiz.1_Missense_Mutation_p.E994K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	994	Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				ATGGATTCTTCCAGAGAATTA	0.368		NaN											0	0	0	0.005443	0	20	198				
MCM10	55388	broad.mit.edu	37	10	13225054	13225055	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:13225054_13225055GG>AA	uc001ima.2	+	8	1156_1157	c.1055_1056GG>AA	c.(1054-1056)GGG>GAA	p.G352E	MCM10_uc001imb.2_Missense_Mutation_p.G351E|MCM10_uc001imc.2_Missense_Mutation_p.G351E	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ACTGTCGTAGGGATCCTCAATG	0.46		NaN											0	0	0	0.004672	0	14	122				
C10orf111	221060	broad.mit.edu	37	10	15138479	15138479	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:15138479C>G	uc001inw.2	-	2	619	c.345G>C	c.(343-345)ATG>ATC	p.M115I	RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	NM_153244	NP_694976	Q8N326	CJ111_HUMAN	hypothetical protein LOC221060	115	Helical; (Potential).					integral to membrane					0						GGAGGAGGCTCATTAGGTCAG	0.488		NaN											0	0	0	0.000602	0	4	65				
PIP4K2A	5305	broad.mit.edu	37	10	22830755	22830755	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:22830755G>C	uc001irl.3	-	8	1262	c.1014C>G	c.(1012-1014)GTC>GTG	p.V338V	PIP4K2A_uc010qcu.1_Silent_p.V198V	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	338	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						TAATTCCATAGACGTCGATGT	0.517		NaN											0	0	0	0.004482	0	6	88				
GPR158	57512	broad.mit.edu	37	10	25464659	25464659	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:25464659G>C	uc001isj.2	+	1	370	c.310G>C	c.(310-312)GAG>CAG	p.E104Q	LOC100128811_uc010qde.1_Missense_Mutation_p.S98W	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	104	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CGGCCGCTACGAGTTGGCGGG	0.677		NaN											0	0	0	0.004482	0	5	81				
APBB1IP	54518	broad.mit.edu	37	10	26800720	26800720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:26800720G>A	uc001iss.2	+	7	897	c.576G>A	c.(574-576)CTG>CTA	p.L192L	APBB1IP_uc009xks.1_Silent_p.L192L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	192	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						CAAAGTCACTGATGGTGGATG	0.473		NaN											0	0	0	0.00308	0	6	127				
YME1L1	10730	broad.mit.edu	37	10	27423784	27423784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:27423784G>A	uc001iti.2	-	7	1020	c.838C>T	c.(838-840)CAA>TAA	p.Q280*	YME1L1_uc001itj.2_Nonsense_Mutation_p.Q223*|YME1L1_uc010qdl.1_Nonsense_Mutation_p.Q190*|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	280					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						GTGAGTGCTTGAGCTTTCAGA	0.368		NaN											0	0	0	0.00308	0	6	92				
CUL2	8453	broad.mit.edu	37	10	35317752	35317752	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:35317752T>A	uc001ixv.2	-	16	1813	c.1603A>T	c.(1603-1605)AAA>TAA	p.K535*	CUL2_uc009xma.2_Nonsense_Mutation_p.K404*|CUL2_uc010qer.1_Nonsense_Mutation_p.K554*|CUL2_uc001ixw.2_Nonsense_Mutation_p.K535*|CUL2_uc010qes.1_Nonsense_Mutation_p.K472*	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	535					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						TGTACACTTTTTTCTAATTCC	0.323		NaN											0	0	0	0.004672	0	3	39				
BMS1	9790	broad.mit.edu	37	10	43293936	43293936	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:43293936G>C	uc001jaj.2	+	12	2468	c.2110G>C	c.(2110-2112)GAA>CAA	p.E704Q		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	704					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TAATGAAGAAGAAGATGATGA	0.438		NaN											0	0	0	0.004482	0	7	75				
VDAC2	7417	broad.mit.edu	37	10	76982062	76982062	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:76982062C>T	uc001jwz.2	+	8	796	c.637C>T	c.(637-639)CTT>TTT	p.L213F	VDAC2_uc010qld.1_Missense_Mutation_p.L174F|VDAC2_uc001jxa.2_Missense_Mutation_p.L228F|VDAC2_uc010qle.1_Missense_Mutation_p.L174F	NM_003375	NP_003366	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	213	Beta stranded; (By similarity).					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGTGAAGATCTTGACACTTC	0.358		NaN											0	0	0	0.000978	0	9	97				
ATRNL1	26033	broad.mit.edu	37	10	117040926	117040926	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:117040926G>T	uc001lcg.2	+	14	2548	c.2162G>T	c.(2161-2163)AGC>ATC	p.S721I		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	721	PSI 3.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAACTTACCAGCTGTAAAAGC	0.353		NaN											1	0	2.31682e-05	0.003163	2.44935e-05	11	66				
EBF3	253738	broad.mit.edu	37	10	131671831	131671831	+	Silent	SNP	G	G	A	rs147554322		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:131671831G>A	uc001lki.1	-	8	725	c.666C>T	c.(664-666)GAC>GAT	p.D222D		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	222					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCACGTGGCCGTCCACGTTGA	0.522		NaN											0	0	0	0.004672	0	3	48				
MUC5B	727897	broad.mit.edu	37	11	1154305	1154305	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1154305G>A	uc009ycr.1	+	3	277	c.151G>A	c.(151-153)GGG>AGG	p.G51R		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGGCCCAGCGGTGAGTCTGA	0.667		NaN											0	0	0	0.00308	0	6	26				
MUC5B	727897	broad.mit.edu	37	11	1263825	1263825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1263825G>C	uc009ycr.1	+	47	7920	c.7794G>C	c.(7792-7794)TGG>TGC	p.W2598C	MUC5B_uc001ltb.2_Missense_Mutation_p.W1908C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1905	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCTGGATCCTCACAA	0.637		NaN											0	0	0	0.006122	0	14	209				
KCNQ1	3784	broad.mit.edu	37	11	2610039	2610039	+	Missense_Mutation	SNP	G	G	C	rs148266527		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:2610039G>C	uc001lwn.2	+	10	1456	c.1348G>C	c.(1348-1350)GAG>CAG	p.E450Q	KCNQ1_uc009ydp.1_Missense_Mutation_p.E234Q|KCNQ1_uc001lwo.2_Missense_Mutation_p.E323Q	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	450	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCCCCAGAAGAGCGGCGGCT	0.562		NaN											0	0	0	0.000602	0	4	15				
OR56A4	120793	broad.mit.edu	37	11	6023979	6023979	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:6023979G>C	uc010qzv.1	-	1	400	c.400C>G	c.(400-402)CCC>GCC	p.P134A		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACCTTGGGGATGACGGTG	0.567		NaN											0	0	0	0.001855	0	11	94				
OR10A6	390093	broad.mit.edu	37	11	7950137	7950137	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:7950137C>G	uc010rbh.1	-	1	73	c.73G>C	c.(73-75)GGG>CGG	p.G25R		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCCCCTGGAGCTCA	0.438		NaN											0	0	0	0.009096	0	4	89				
SBF2	81846	broad.mit.edu	37	11	9851008	9851008	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:9851008C>T	uc001mib.2	-	28	3826	c.3688G>A	c.(3688-3690)GAA>AAA	p.E1230K		NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1230	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTCTTGTTCTATGCTACTG	0.368		NaN											0	0	0	0.001984	0	5	93				
NAV2	89797	broad.mit.edu	37	11	20113769	20113769	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113769G>T	uc001mpr.3	+	28	6040	c.5679G>T	c.(5677-5679)CTG>CTT	p.L1893L	NAV2_uc001mpp.2_Silent_p.L1826L|NAV2_uc009yhx.2_Silent_p.L954L|NAV2_uc009yhz.2_Silent_p.L535L|NAV2_uc001mpu.2_Silent_p.L328L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1949	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TAGAGAAGCTGAAAGCTGAGA	0.498		NaN											1	0	0.00198382	0.001984	0.0020327	6	91				
NAV2	89797	broad.mit.edu	37	11	20113776	20113776	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113776G>A	uc001mpr.3	+	28	6047	c.5686G>A	c.(5686-5688)GAG>AAG	p.E1896K	NAV2_uc001mpp.2_Missense_Mutation_p.E1829K|NAV2_uc009yhx.2_Missense_Mutation_p.E957K|NAV2_uc009yhz.2_Missense_Mutation_p.E538K|NAV2_uc001mpu.2_Missense_Mutation_p.E331K	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1952	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCTGAAAGCTGAGAATGATCG	0.507		NaN											0	0	0	0.00308	0	6	97				
DCDC1	341019	broad.mit.edu	37	11	31329201	31329201	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:31329201G>A	uc001msv.2	-	4	621	c.419C>T	c.(418-420)CCA>CTA	p.P140L	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	140					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TTGACCCACTGGAGCACTGAC	0.358		NaN											0	0	0	0.003163	0	12	95				
COMMD9	29099	broad.mit.edu	37	11	36297736	36297736	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:36297736G>A	uc001mwn.3	-	5	444	c.407C>T	c.(406-408)TCA>TTA	p.S136L	COMMD9_uc009ykj.2_Missense_Mutation_p.S94L|COMMD9_uc009yki.1_5'Flank	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	136	COMM.									ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GATGCTGTCTGAGGAGGTTTT	0.552		NaN											0	0	0	0.001168	0	5	92				
TSPAN18	90139	broad.mit.edu	37	11	44948255	44948255	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:44948255G>A	uc001mye.3	+	7	807	c.646G>A	c.(646-648)GAG>AAG	p.E216K	TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.E216K	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	tetraspanin 18 isoform 2	216	Extracellular (Potential).					integral to membrane					0						CAACACCTTCGAGACCTACGT	0.592		NaN									OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00333	0	19	252				
OR5T3	390154	broad.mit.edu	37	11	56020432	56020432	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:56020432T>C	uc010rjd.1	+	1	757	c.757T>C	c.(757-759)TTG>CTG	p.L253L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	253	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTTCATTCTGTTGTCCATTCT	0.413		NaN											0	0	0	0.004007	0	14	184				
TNKS1BP1	85456	broad.mit.edu	37	11	57076793	57076793	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57076793C>G	uc001njr.2	-	5	3704	c.3392G>C	c.(3391-3393)AGA>ACA	p.R1131T	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1131T|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R582T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1131	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ACCACTCACTCTGTCGTTGCC	0.577		NaN											0	0	0	0.00499	0	13	144				
SLC43A1	8501	broad.mit.edu	37	11	57259332	57259332	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57259332G>A	uc001nkk.2	-	9	993	c.875C>T	c.(874-876)TCT>TTT	p.S292F	SLC43A1_uc001nkl.2_Missense_Mutation_p.S292F	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	292					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						TAAGGGGACAGACCCTGGGGA	0.607		NaN									OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	37				
OR6Q1	219952	broad.mit.edu	37	11	57799186	57799186	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57799186C>T	uc010rjz.1	+	1	762	c.762C>T	c.(760-762)CTC>CTT	p.L254L	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGTGAGCCTCTTCTATGGCA	0.522		NaN											0	0	0	0.00333	0	18	128				
FAM111B	374393	broad.mit.edu	37	11	58893123	58893123	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:58893123C>G	uc001nnl.2	+	4	1796	c.1553C>G	c.(1552-1554)ACT>AGT	p.T518S	FAM111B_uc001nnm.2_Missense_Mutation_p.T488S|FAM111B_uc010rko.1_Missense_Mutation_p.T488S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	518							catalytic activity			ovary(2)	2						GTAACCTTCACTTATACAGAG	0.373		NaN											0	0	0	0.004007	0	13	147				
CDC42BPG	55561	broad.mit.edu	37	11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:64595223C>T	uc001obs.3	-	31	4000	c.4000G>A	c.(4000-4002)GAG>AAG	p.E1334K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1334	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						ATGGAGTTCTCGCTGAACACT	0.637		NaN											0	0	0	0.004482	0	7	84				
LTBP3	4054	broad.mit.edu	37	11	65318916	65318916	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:65318916C>T	uc001oej.2	-	10	1847	c.1578G>A	c.(1576-1578)CAG>CAA	p.Q526Q	LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.Q409Q|LTBP3_uc001oei.2_Silent_p.Q526Q|LTBP3_uc010roj.1_Silent_p.Q227Q|LTBP3_uc010rok.1_Silent_p.Q437Q	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	526						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TTGGGTGGCTCTGCTGCACTG	0.652		NaN											0	0	0	0.001168	0	5	55				
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66063113G>A	uc001ohl.2	+	2	1508	c.1396G>A	c.(1396-1398)GGT>AGT	p.G466S		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral to membrane				central_nervous_system(1)	1						GGATGGGCAGGGTGCTCTCTG	0.652		NaN											0	0	0	0.001984	0	5	27				
ZDHHC24	254359	broad.mit.edu	37	11	66313210	66313210	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66313210G>A	uc001oin.1	-	1	462	c.265C>T	c.(265-267)CTG>TTG	p.L89L	ACTN3_uc010rpi.1_5'Flank|ACTN3_uc001oio.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Silent_p.L89L	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	89						integral to membrane	acyltransferase activity|zinc ion binding				0						CCCTGGCCCAGACCGCGGCCG	0.701		NaN											0	0	0	0.004672	0	3	14				
RNF169	254225	broad.mit.edu	37	11	74545750	74545750	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74545750A>G	uc001ovl.3	+	5	885	c.872A>G	c.(871-873)CAG>CGG	p.Q291R	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	291							zinc ion binding			ovary(1)	1						GAAAGGAGTCAGAGCTGTAGT	0.443		NaN											0	0	0	0.009096	0	4	58				
SLCO2B1	11309	broad.mit.edu	37	11	74873787	74873787	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74873787C>T	uc001owb.2	+	2	491	c.104C>T	c.(103-105)CCA>CTA	p.P35L	SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.P13L	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	35	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	AAAGCCAGCCCAGACCCTCAG	0.547		NaN											0	0	0	0.001368	0	12	147				
NCAM1	4684	broad.mit.edu	37	11	113130955	113130955	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:113130955G>A	uc001pns.2	+	2	213	c.181G>A	c.(181-183)GAG>AAG	p.E61K				P13591	NCAM1_HUMAN	SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;	681	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCTGAGTATGAGGTCTACGT	0.567		NaN											0	0	0	0.006214	0	8	88				
USP2	9099	broad.mit.edu	37	11	119244114	119244114	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:119244114C>T	uc001pwm.3	-	2	372	c.77G>A	c.(76-78)GGC>GAC	p.G26D	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	26	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGCACCATAGCCCGACTTGGC	0.597		NaN											0	0	0	0.001168	0	5	35				
ARHGEF12	23365	broad.mit.edu	37	11	120312861	120312861	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:120312861A>G	uc001pxl.1	+	15	1259	c.1252A>G	c.(1252-1254)ACT>GCT	p.T418A	ARHGEF12_uc009zat.2_Missense_Mutation_p.T399A|ARHGEF12_uc010rzn.1_Missense_Mutation_p.T315A|ARHGEF12_uc009zau.1_Missense_Mutation_p.T315A	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	418	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCCAAAGAAACTCGTCGCAT	0.358		NaN	T	MLL	AML								0	0	0	0.009096	0	4	50				
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414362C>T	uc001pxx.2	+	13	1871	c.1791C>T	c.(1789-1791)TTC>TTT	p.F597F		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	597	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512		NaN											0	0	0	0.006214	0	7	185				
SORL1	6653	broad.mit.edu	37	11	121414368	121414368	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414368C>G	uc001pxx.2	+	13	1877	c.1797C>G	c.(1795-1797)ATC>ATG	p.I599M		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	599	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTCACCATCTTTGGCTCGA	0.512		NaN											0	0	0	0.00308	0	7	181				
ADIPOR2	79602	broad.mit.edu	37	12	1895205	1895205	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:1895205C>T	uc001qjm.2	+	8	1325	c.1128C>T	c.(1126-1128)ATC>ATT	p.I376I	ADIPOR2_uc001qjn.2_Silent_p.I376I	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	376	Extracellular (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCATGATCGGCGGGGGCT	0.532		NaN											0	0	0	0.001984	0	7	117				
PRMT8	56341	broad.mit.edu	37	12	3692332	3692332	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:3692332A>G	uc001qmf.2	+	8	1304	c.937A>G	c.(937-939)ATT>GTT	p.I313V	PRMT8_uc009zed.2_Missense_Mutation_p.I304V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.I127V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	313					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTATTTTAATATTGAATTTAC	0.478		NaN											0	0	0	0.000602	0	4	20				
CLSTN3	9746	broad.mit.edu	37	12	7290563	7290563	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:7290563C>G	uc001qsr.2	+	8	1501	c.1223C>G	c.(1222-1224)TCT>TGT	p.S408C	CLSTN3_uc001qss.2_Missense_Mutation_p.S420C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	408	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GACGGCTTCTCTCACTACTCG	0.577		NaN											0	0	0	0.006122	0	15	105				
SLCO1B3	28234	broad.mit.edu	37	12	21036424	21036424	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:21036424T>A	uc001rek.2	+	12	1696	c.1570T>A	c.(1570-1572)TGC>AGC	p.C524S	SLCO1B3_uc001rel.2_Missense_Mutation_p.C524S|SLCO1B3_uc010sil.1_Missense_Mutation_p.C524S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.C349S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	524	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CTTGGGTGAATGCCCAAGAGA	0.338		NaN											0	0	0	0.001984	0	5	79				
DDX11	1663	broad.mit.edu	37	12	31242861	31242861	+	Silent	SNP	A	A	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:31242861A>C	uc001rjt.1	+	9	1173	c.922A>C	c.(922-924)AGG>CGG	p.R308R	DDX11_uc010sjw.1_3'UTR|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.R308R|DDX11_uc001rjs.1_Silent_p.R308R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.R308R|DDX11_uc001rjw.1_Silent_p.R282R|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	308	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAAGAGGAGGAGGCAGGAGAA	0.587		NaN								Multiple Myeloma(12;0.14)			0	0	0	0.001984	0	3	14				
LRRK2	120892	broad.mit.edu	37	12	40631899	40631899	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:40631899G>A	uc001rmg.3	+	5	686	c.565G>A	c.(565-567)GAG>AAG	p.E189K		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	189					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGCTGTTTGAGAGAGGTAT	0.318		NaN											0	0	0	0.004482	0	8	59				
ARID2	196528	broad.mit.edu	37	12	46230554	46230554	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46230554C>T	uc001ros.1	+	8	803	c.803C>T	c.(802-804)TCT>TTT	p.S268F	ARID2_uc001ror.2_Missense_Mutation_p.S268F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTGGGAGTCTTTATTTCAT	0.348		NaN											0	0	0	0.00308	0	7	74		Valid		
ARID2	196528	broad.mit.edu	37	12	46298835	46298835	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46298835G>C	uc001ros.1	+	21	5482	c.5482G>C	c.(5482-5484)GAA>CAA	p.E1828Q	ARID2_uc009zkg.1_Missense_Mutation_p.E1284Q|ARID2_uc009zkh.1_Missense_Mutation_p.E1455Q|ARID2_uc001rou.1_3'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1828					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAGGAACAAGAAAAAGACTC	0.388		NaN											0	0	0	0.009096	0	3	34		Valid		
C12orf41	54934	broad.mit.edu	37	12	49054188	49054188	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49054188C>T	uc001rrx.2	-	8	1263	c.1188G>A	c.(1186-1188)GAG>GAA	p.E396E	C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Silent_p.E579E|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_Silent_p.E27E|C12orf41_uc001rrv.2_Intron	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	396										ovary(2)	2						TGGGCTGAAGCTCAGCAGCAC	0.493		NaN											0	0	0	0.001168	0	5	35				
MLL2	8085	broad.mit.edu	37	12	49445757	49445757	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49445757G>C	uc001rta.3	-	10	1709	c.1709C>G	c.(1708-1710)TCT>TGT	p.S570C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	570	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGACAGGCGAGATGCTTCAGG	0.592		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.001368	0	12	151		Valid		
LARP4	113251	broad.mit.edu	37	12	50829320	50829320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:50829320C>T	uc001rwp.1	+	5	592	c.448C>T	c.(448-450)CAG>TAG	p.Q150*	LARP4_uc001rwo.1_Nonsense_Mutation_p.Q156*|LARP4_uc001rwq.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rwr.1_Nonsense_Mutation_p.Q150*|LARP4_uc001rws.1_Nonsense_Mutation_p.Q149*|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Nonsense_Mutation_p.Q150*|LARP4_uc001rwn.2_Nonsense_Mutation_p.Q80*	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	150	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(1)	1						GGATAGTGATCAGTTCATCCC	0.299		NaN											0	0	0	0.00308	0	5	47				
TFCP2	7024	broad.mit.edu	37	12	51500367	51500367	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:51500367G>A	uc001rxw.2	-	8	1317	c.858C>T	c.(856-858)GTC>GTT	p.V286V	TFCP2_uc001rxv.1_Silent_p.V286V|TFCP2_uc009zlx.1_Silent_p.V235V|TFCP2_uc001rxx.2_Silent_p.V286V|TFCP2_uc009zly.1_Silent_p.V188V	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	286	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGAGTTATTGACATACGTGA	0.398		NaN											0	0	0	0.001984	0	5	55				
KRT72	140807	broad.mit.edu	37	12	52984645	52984645	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:52984645G>C	uc001sar.2	-	6	1150	c.1064C>G	c.(1063-1065)TCA>TGA	p.S355*	KRT72_uc001saq.2_Nonsense_Mutation_p.S355*|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Nonsense_Mutation_p.S167*	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	355	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCTATCTCTGAGCGGATCCT	0.488		NaN											0	0	0	0.00245	0	12	98				
RARG	5916	broad.mit.edu	37	12	53605514	53605514	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53605514G>C	uc001sce.2	-	10	1796	c.1311C>G	c.(1309-1311)AGC>AGG	p.S437R	RARG_uc001scd.2_Missense_Mutation_p.S426R|RARG_uc010sob.1_Missense_Mutation_p.S415R|RARG_uc001scf.2_Missense_Mutation_p.S437R|RARG_uc001scg.2_Missense_Mutation_p.S365R|RARG_uc010soc.1_Missense_Mutation_p.S316R	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	437					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCATCCTCGCTAGAGGCAT	0.637		NaN											0	0	0	0.004672	0	3	23				
ATF7	11016	broad.mit.edu	37	12	53994749	53994749	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53994749C>A	uc001sdy.2	-	1	57	c.36G>T	c.(34-36)CCG>CCT	p.P12P	ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Silent_p.P12P|ATF7_uc010sol.1_Silent_p.P12P|ATF7_uc001sea.3_Silent_p.P12P|ATF7_uc001seb.3_Silent_p.P12P	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	12	C2H2-type.|Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GTCCACAGCCCGGGGCATTGC	0.433		NaN											1	0	0.00198382	0.001984	0.0020327	5	38				
ZBTB39	9880	broad.mit.edu	37	12	57398642	57398642	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:57398642G>C	uc001sml.1	-	2	146	c.60C>G	c.(58-60)CTC>CTG	p.L20L	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						GGCACTTGTTGAGTTCCTTCA	0.557		NaN											0	0	0	0.008291	0	9	206				
NUP107	57122	broad.mit.edu	37	12	69121157	69121157	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:69121157G>C	uc001suf.2	+	20	1837	c.1722G>C	c.(1720-1722)AAG>AAC	p.K574N	NUP107_uc001sug.2_Missense_Mutation_p.K421N|NUP107_uc010stj.1_Missense_Mutation_p.K545N	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	574					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTTTTAAAGACATACATAC	0.269		NaN											0	0	0	0.000602	0	4	83				
LGR5	8549	broad.mit.edu	37	12	71960693	71960693	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:71960693G>A	uc001swl.2	+	11	1118	c.1070_splice	c.e11+1	p.L357_splice	LGR5_uc001swm.2_Splice_Site_p.L333_splice|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled							integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TCCAAGTGCTGTGCGTATCAG	0.393		NaN											0	0	0	0.001984	0	6	89				
EEA1	8411	broad.mit.edu	37	12	93226360	93226360	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:93226360C>G	uc001tck.2	-	11	1447	c.1182G>C	c.(1180-1182)GAG>GAC	p.E394D		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	394	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GCTGCTTAAACTCCGCCTTTA	0.358		NaN											0	0	0	0.000978	0	9	201				
FGD6	55785	broad.mit.edu	37	12	95566467	95566467	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:95566467G>A	uc001tdp.3	-	3	2719	c.2495C>T	c.(2494-2496)TCT>TTT	p.S832F	FGD6_uc009zsx.2_5'UTR	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	832				S -> P (in Ref. 3; CAD98096).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CTCCTCATCAGAGGGAAGGTC	0.433		NaN											0	0	0	0.000978	0	10	163				
NUAK1	9891	broad.mit.edu	37	12	106500216	106500216	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:106500216G>C	uc001tlj.1	-	2	1708	c.328C>G	c.(328-330)CTC>GTC	p.L110V		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	110	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GGATGGTTGAGAGATGACATG	0.373		NaN											0	0	0	0.009096	0	3	33				
IFT81	28981	broad.mit.edu	37	12	110641690	110641690	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:110641690G>C	uc001tqi.2	+	15	1709	c.1579G>C	c.(1579-1581)GAA>CAA	p.E527Q	IFT81_uc001tqh.2_Missense_Mutation_p.E527Q|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	527	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						ggagtgtgatgaaaagaaatc	0.194		NaN											0	0	0	0.004482	0	9	36				
XPO4	64328	broad.mit.edu	37	13	21442787	21442787	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:21442787G>C	uc001unq.3	-	2	159	c.123C>G	c.(121-123)TTC>TTG	p.F41L	XPO4_uc010tcr.1_Intron	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	41					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAATGATAAGAATATGTGCT	0.338		NaN											0	0	0	0.004482	0	7	195				
PARP4	143	broad.mit.edu	37	13	25008866	25008866	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:25008866C>T	uc001upl.2	-	31	4519	c.4413G>A	c.(4411-4413)TTG>TTA	p.L1471L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1471					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTTGGCAGTCAAAGAGGCTG	0.493		NaN											0	0	0	0.004482	0	8	18				
RXFP2	122042	broad.mit.edu	37	13	32313816	32313816	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:32313816C>T	uc001utt.2	+	1	138	c.67C>T	c.(67-69)CAT>TAT	p.H23Y	RXFP2_uc010aba.2_Missense_Mutation_p.H6Y	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	23	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTCTACTTCATTTCATCGT	0.333		NaN											0	0	0	0.001168	0	5	88				
LCP1	3936	broad.mit.edu	37	13	46708313	46708313	+	Silent	SNP	C	C	T	rs111548644		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:46708313C>T	uc001vaz.3	-	14	1701	c.1575G>A	c.(1573-1575)GTG>GTA	p.V525V	LCP1_uc010ack.2_Silent_p.V94V|LCP1_uc001vay.3_Silent_p.V122V|LCP1_uc001vba.3_Silent_p.V525V	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	525	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGTTTCATTCACCCAGTTGA	0.393		NaN	T	BCL6	NHL 								0	0	0	0.001368	0	11	93				
DACH1	1602	broad.mit.edu	37	13	72053440	72053440	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:72053440C>T	uc010thn.1	-	9	2154	c.1731G>A	c.(1729-1731)TTG>TTA	p.L577L	DACH1_uc010tho.1_Silent_p.L429L|DACH1_uc010thp.1_Silent_p.L375L	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	629	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGCAACTTTCAACAGCCCCT	0.358		NaN											0	0	0	0.006214	0	8	132				
DZIP1	22873	broad.mit.edu	37	13	96274734	96274734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:96274734G>A	uc001vmk.2	-	9	1825	c.973C>T	c.(973-975)CAA>TAA	p.Q325*	DZIP1_uc001vml.2_Nonsense_Mutation_p.Q325*	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	325	Potential.				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTGACAGTTGCTATAAGATA	0.373		NaN											0	0	0	0.00499	0	12	125				
MBNL2	10150	broad.mit.edu	37	13	97999162	97999162	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:97999162A>G	uc010aft.2	+	5	1461	c.645A>G	c.(643-645)GTA>GTG	p.V215V	MBNL2_uc001vmz.2_Silent_p.V215V|MBNL2_uc001vna.2_Silent_p.V215V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	215	C3H1-type 4.				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACAACACCGTAACCGTTTGTA	0.537		NaN											0	0	0	0.004007	0	14	102				
UBAC2	337867	broad.mit.edu	37	13	99992667	99992667	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:99992667G>C	uc001voa.3	+	7	1139	c.655G>C	c.(655-657)GAA>CAA	p.E219Q	UBAC2_uc010tiu.1_Missense_Mutation_p.E241Q|UBAC2_uc001vob.3_Missense_Mutation_p.E192Q|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Missense_Mutation_p.E106Q|UBAC2_uc001voc.2_Missense_Mutation_p.E184Q|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_Missense_Mutation_p.E23Q	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2 isoform 1	219	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGACACTTGAACCCATCTT	0.527		NaN											0	0	0	0.000602	0	4	94				
ZIC2	7546	broad.mit.edu	37	13	100637333	100637333	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:100637333G>A	uc001von.2	+	2	1209	c.1209G>A	c.(1207-1209)ACG>ACA	p.T403T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	403	C2H2-type 5.		T -> K (in HPE5).		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCCTACACGCACCCCAGCT	0.667		NaN											0	0	0	0.004007	0	13	124				
EFNB2	1948	broad.mit.edu	37	13	107147270	107147270	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:107147270C>A	uc001vqi.2	-	4	597	c.572G>T	c.(571-573)GGA>GTA	p.G191V		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	191	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGAACTTCTTCCATTTGTACC	0.393		NaN											1	0	5.01169e-05	0.00499	5.26492e-05	13	225				
CARS2	79587	broad.mit.edu	37	13	111296814	111296814	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:111296814C>T	uc001vrd.2	-	13	1374	c.1334G>A	c.(1333-1335)AGA>AAA	p.R445K	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	445					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGCAGGACTTCTCGGCCCTTC	0.423		NaN											0	0	0	0.001984	0	5	65				
TOX4	9878	broad.mit.edu	37	14	21960463	21960463	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:21960463G>A	uc001waz.2	+	6	922	c.819G>A	c.(817-819)AAG>AAA	p.K273K	TOX4_uc001way.2_Silent_p.K143K|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.K250K|TOX4_uc010tlv.1_Silent_p.K143K	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	273	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGTATATAAGAGGAAAACTG	0.358		NaN											0	0	0	0.006214	0	8	84				
MIPOL1	145282	broad.mit.edu	37	14	37969203	37969203	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:37969203G>C	uc001wuc.2	+	13	1625	c.1122G>C	c.(1120-1122)GAG>GAC	p.E374D	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.E343D|MIPOL1_uc001wud.2_Missense_Mutation_p.E374D|MIPOL1_uc010ams.2_Missense_Mutation_p.E374D|MIPOL1_uc001wue.2_Missense_Mutation_p.E343D|MIPOL1_uc010amt.2_Missense_Mutation_p.E193D	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	374	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAACAGAGAGAACATTGTTT	0.348		NaN											0	0	0	0.001168	0	5	101				
PSMC6	5706	broad.mit.edu	37	14	53187697	53187697	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:53187697T>G	uc010tqx.1	+	11	938	c.938T>G	c.(937-939)ATA>AGA	p.I313R	PSMC6_uc001wzy.2_5'Flank	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					GATAGAAAAATACGTGAGTTA	0.368		NaN											0	0	0	0.001855	0	10	192				
WDHD1	11169	broad.mit.edu	37	14	55429799	55429799	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:55429799G>C	uc001xbm.1	-	19	2480	c.2402C>G	c.(2401-2403)TCT>TGT	p.S801C	WDHD1_uc010aom.1_Missense_Mutation_p.S318C|WDHD1_uc001xbn.1_Missense_Mutation_p.S678C	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	801						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CCGAGAGCGAGAAGCATATTT	0.383		NaN											0	0	0	0.001984	0	6	73				
KTN1	3895	broad.mit.edu	37	14	56122763	56122763	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:56122763G>A	uc001xcb.2	+	30	3107	c.2805G>A	c.(2803-2805)TTG>TTA	p.L935L	KTN1_uc001xce.2_Silent_p.L935L|KTN1_uc001xcc.2_Silent_p.L935L|KTN1_uc001xcd.2_Silent_p.L912L|KTN1_uc010trb.1_Silent_p.L935L|KTN1_uc001xcf.1_Silent_p.L912L|KTN1_uc010aoq.2_Silent_p.L230L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	935	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						ATTCTAGGTTGAAAGAAAAGG	0.348		NaN	T	RET	papillary thryoid								0	0	0	0.000602	0	4	21				
RTN1	6252	broad.mit.edu	37	14	60213112	60213112	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:60213112G>C	uc001xen.1	-	2	538	c.329C>G	c.(328-330)TCT>TGT	p.S110C		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	110					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGATGTCAGAAATGAGAGA	0.458		NaN											0	0	0	0.001984	0	6	57				
NEK9	91754	broad.mit.edu	37	14	75590902	75590902	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:75590902C>T	uc001xrl.2	-	2	398	c.244G>A	c.(244-246)GAA>AAA	p.E82K		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	82	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AAATCGACTTCCTTCCACACA	0.473		NaN											0	0	0	0.001984	0	6	60				
SERPINA11	256394	broad.mit.edu	37	14	94914814	94914814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:94914814G>T	uc001ydd.1	-	2	358	c.298C>A	c.(298-300)CTG>ATG	p.L100M		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	100					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AGGCCCTCCAGGATCAGAGCT	0.617		NaN											1	0	0.000442599	0.006214	0.000457261	9	77				
PAPOLA	10914	broad.mit.edu	37	14	97003351	97003351	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:97003351G>A	uc001yfq.2	+	12	1279	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	PAPOLA_uc001yfr.2_Missense_Mutation_p.E357K|PAPOLA_uc010twv.1_Missense_Mutation_p.E357K|PAPOLA_uc010avp.2_Missense_Mutation_p.E107K	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	357					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAGTAAGGCAGAGTGGTCCAA	0.313		NaN											0	0	0	0.001984	0	5	51				
C14orf177	283598	broad.mit.edu	37	14	99183486	99183486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:99183486G>T	uc001yfz.1	+	4	672	c.253G>T	c.(253-255)GAA>TAA	p.E85*		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	85											0		Melanoma(154;0.128)				CCAGAGACATGAAGAAACTTC	0.453		NaN											1	0	1.06961e-07	0.00308	1.1503e-07	5	70				
C14orf73	91828	broad.mit.edu	37	14	103574805	103574805	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:103574805G>T	uc001ymk.2	+	10	2003	c.1927G>T	c.(1927-1929)GAC>TAC	p.D643Y		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	643											0		Melanoma(154;0.155)	Epithelial(46;0.221)			CTACAAAGATGACATCCAGCG	0.602		NaN											1	0	7.41877e-09	0.001882	8.0303e-09	21	315				
HERC2	8924	broad.mit.edu	37	15	28408392	28408392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:28408392G>A	uc001zbj.2	-	69	10700	c.10594C>T	c.(10594-10596)CAG>TAG	p.Q3532*		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3532					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGGCCTGAGGCTCCGGA	0.502		NaN											0	0	0	0.00308	0	7	108				
C15orf23	90417	broad.mit.edu	37	15	40675233	40675233	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:40675233G>A	uc001zll.2	+	1	312	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	C15orf23_uc010ucp.1_Missense_Mutation_p.R66Q|C15orf23_uc001zlo.2_Missense_Mutation_p.R66Q|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	66						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GGGCAGGACCGGCGGGCTCCT	0.592		NaN											0	0	0	0.008291	0	10	136				
SNAP23	8773	broad.mit.edu	37	15	42821985	42821985	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:42821985C>G	uc001zpz.1	+	7	629	c.538C>G	c.(538-540)CAA>GAA	p.Q180E	SNAP23_uc001zqa.1_Missense_Mutation_p.Q127E	NM_003825	NP_003816	O00161	SNP23_HUMAN	synaptosomal-associated protein 23 isoform	180	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding				0		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GATTGATGCTCAAAATCCACA	0.403		NaN											0	0	0	0.000602	0	5	72				
DMXL2	23312	broad.mit.edu	37	15	51772766	51772766	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:51772766G>C	uc002abf.2	-	24	6762	c.6537C>G	c.(6535-6537)CTC>CTG	p.L2179L	DMXL2_uc002abd.2_Silent_p.L249L|DMXL2_uc010ufy.1_Silent_p.L2179L|DMXL2_uc010bfa.2_Silent_p.L1543L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2179						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GCAAAAATTTGAGTTCCATCC	0.393		NaN											0	0	0	0.00308	0	6	64				
TRIP4	9325	broad.mit.edu	37	15	64689913	64689913	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:64689913G>A	uc002anm.2	+	4	557	c.514G>A	c.(514-516)GAT>AAT	p.D172N		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	172	C4-type.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						TCACCCTTGTGATTGCCTGGG	0.498		NaN											0	0	0	0.001168	0	6	84				
SMAD6	4091	broad.mit.edu	37	15	67073574	67073574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:67073574G>A	uc002aqf.2	+	4	2115	c.1192G>A	c.(1192-1194)GAC>AAC	p.D398N	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.D137N	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	398	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						CAAGGAGCCCGACGGCGTGTG	0.711		NaN											0	0	0	0.00308	0	5	36				
UACA	55075	broad.mit.edu	37	15	70959792	70959792	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:70959792C>G	uc002asr.2	-	16	3335	c.3231G>C	c.(3229-3231)CAG>CAC	p.Q1077H	UACA_uc010uke.1_Missense_Mutation_p.Q968H|UACA_uc002asq.2_Missense_Mutation_p.Q1064H|UACA_uc010bin.1_Missense_Mutation_p.Q1052H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1077	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						CCGTGTATTTCTGTGACAAGT	0.358		NaN											0	0	0	0.001984	0	7	51				
AGBL1	123624	broad.mit.edu	37	15	86814885	86814885	+	Missense_Mutation	SNP	C	C	G	rs147544569	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:86814885C>G	uc002blz.1	+	14	1965	c.1885C>G	c.(1885-1887)CTT>GTT	p.L629V	AGBL1_uc002bma.1_Missense_Mutation_p.L360V|AGBL1_uc002bmb.1_Missense_Mutation_p.L323V	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	629					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GAAGGAGGCTCTTCTTGGCAA	0.388		NaN											0	0	0	0.003163	0	10	125				
ACAN	176	broad.mit.edu	37	15	89403660	89403660	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89403660C>T	uc010upo.1	+	13	7310	c.6936C>T	c.(6934-6936)CAC>CAT	p.H2312H	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2312					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGCGAGCACTGTAACATAG	0.627		NaN											0	0	0	0.000602	0	3	31				
MFGE8	4240	broad.mit.edu	37	15	89442994	89442994	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89442994C>A	uc002bng.3	-	7	1032	c.919G>T	c.(919-921)GCC>TCC	p.A307S	MFGE8_uc002bnf.3_Missense_Mutation_p.A195S|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Missense_Mutation_p.A299S|MFGE8_uc010upq.1_Missense_Mutation_p.A263S|MFGE8_uc010upr.1_Missense_Mutation_p.A307S	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	307	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAGTTACGGGCCCCCTGGGTG	0.542		NaN											1	0	8.12818e-05	0.001984	8.50307e-05	7	50				
KIF7	374654	broad.mit.edu	37	15	90189215	90189215	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:90189215C>T	uc002bof.2	-	8	1908	c.1831G>A	c.(1831-1833)GAG>AAG	p.E611K	KIF7_uc010upw.1_Missense_Mutation_p.E98K	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	611					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGTTCACCTCAGTCAGCAAC	0.517		NaN											0	0	0	0.00499	0	13	160				
BLM	641	broad.mit.edu	37	15	91333991	91333991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91333991G>C	uc002bpr.2	+	15	3033	c.2936G>C	c.(2935-2937)AGA>ACA	p.R979T	BLM_uc010uqh.1_Missense_Mutation_p.R979T|BLM_uc010uqi.1_Missense_Mutation_p.R604T|BLM_uc010bnx.2_Missense_Mutation_p.R979T|BLM_uc002bps.1_Missense_Mutation_p.R541T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	979	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTGGCAGAGCTGGAAGA	0.438		NaN	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				0	0	0	0.004482	0	9	105				
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91769716C>T	uc002bqv.2	+	1	614	c.223C>T	c.(223-225)CGG>TGG	p.R75W	SV2B_uc002bqt.2_Missense_Mutation_p.R75W|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	75	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587		NaN											0	0	0	0.001168	0	4	32				
ITFG3	83986	broad.mit.edu	37	16	312519	312520	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:312519_312520TC>CT	uc002cgf.2	+	8	1133_1134	c.938_939TC>CT	c.(937-939)CTC>CCT	p.L313P	ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Missense_Mutation_p.L313P|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.L313P	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GAGAGCATGCTCAATGCCACCA	0.649		NaN											0	0	0	0.004672	0	11	88				
UNKL	64718	broad.mit.edu	37	16	1417786	1417786	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:1417786C>G	uc010brn.1	-	7	798	c.780G>C	c.(778-780)CTG>CTC	p.L260L	UNKL_uc002cln.2_Silent_p.L52L|UNKL_uc002clo.2_Silent_p.L49L|UNKL_uc002clp.2_Silent_p.L52L			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	550	Ser-rich.					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				GGCCGGCACTCAGGATGGGGG	0.642		NaN											0	0	0	0.004672	0	3	9				
TBC1D24	57465	broad.mit.edu	37	16	2546157	2546157	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:2546157C>G	uc002cql.2	+	2	148	c.8C>G	c.(7-9)TCT>TGT	p.S3C	TBC1D24_uc002cqk.2_Missense_Mutation_p.S3C|TBC1D24_uc002cqm.2_Missense_Mutation_p.S3C|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	3					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						GCTATGGACTCTCCAGGATAC	0.597		NaN											0	0	0	0.004656	0	16	109				
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:4511851C>T	uc002cwm.2	-	6	986	c.830G>A	c.(829-831)AGA>AAA	p.R277K	NMRAL1_uc002cwn.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwo.2_Missense_Mutation_p.R277K|NMRAL1_uc002cwp.2_Missense_Mutation_p.R313K	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						GGGGTTGAGTCTCAGGGTCAG	0.617		NaN											0	0	0	0.001855	0	12	232				
CLEC16A	23274	broad.mit.edu	37	16	11137897	11137897	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11137897G>A	uc002dao.2	+	16	2013	c.1783G>A	c.(1783-1785)GAA>AAA	p.E595K	CLEC16A_uc002dan.3_Missense_Mutation_p.E577K	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	595								p.0?(1)		ovary(1)|central_nervous_system(1)	2						TGCGAGAGAAGAAAGTGTTCA	0.443		NaN											0	0	0	0.001368	0	10	73				
TXNDC11	51061	broad.mit.edu	37	16	11824584	11824584	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11824584C>G	uc010buu.1	-	4	678	c.616G>C	c.(616-618)GAG>CAG	p.E206Q	TXNDC11_uc002dbg.1_Missense_Mutation_p.E206Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	206	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						ACAAACTTCTCAATGTAAACA	0.343		NaN											0	0	0	0.000602	0	5	115				
ABCC1	4363	broad.mit.edu	37	16	16219752	16219752	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:16219752C>T	uc010bvi.2	+	26	3978	c.3803C>T	c.(3802-3804)TCA>TTA	p.S1268L	ABCC1_uc010bvj.2_Missense_Mutation_p.S1209L|ABCC1_uc010bvk.2_Missense_Mutation_p.S1212L|ABCC1_uc010bvl.2_Missense_Mutation_p.S1268L|ABCC1_uc010bvm.2_Missense_Mutation_p.S1153L|ABCC1_uc002del.3_Missense_Mutation_p.S1162L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1268	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAGTATTCAGAGACTGAG	0.537		NaN											0	0	0	0.00308	0	6	54				
MAPK3	5595	broad.mit.edu	37	16	30134420	30134420	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30134420G>A	uc002dws.2	-	1	211	c.111C>T	c.(109-111)GAC>GAT	p.D37D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Silent_p.D37D|MAPK3_uc002dwt.2_Silent_p.D37D|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	37					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GCGGGCCCACGTCGAACGGCT	0.627		NaN											0	0	0	0.001168	0	4	42				
SRCAP	10847	broad.mit.edu	37	16	30735318	30735318	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30735318C>G	uc002dze.1	+	25	4958	c.4573C>G	c.(4573-4575)CTG>GTG	p.L1525V	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L1320V|SRCAP_uc010bzz.1_Missense_Mutation_p.L1095V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1525	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGGTCACCCTCTGTTGTTGGC	0.587		NaN											0	0	0	0.001168	0	5	41		Valid		
CHD9	80205	broad.mit.edu	37	16	53338213	53338213	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:53338213G>A	uc002ehb.2	+	30	6459	c.6295G>A	c.(6295-6297)GAA>AAA	p.E2099K	CHD9_uc002egy.2_Missense_Mutation_p.E2099K|CHD9_uc002ehc.2_Missense_Mutation_p.E2099K|CHD9_uc002ehf.2_Missense_Mutation_p.E1213K|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.E105K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2099					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGGAAAATGTGAAACAGACAG	0.448		NaN											0	0	0	0.004672	0	3	23				
FUK	197258	broad.mit.edu	37	16	70500855	70500855	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:70500855C>T	uc002eyy.2	+	6	540	c.482C>T	c.(481-483)CCT>CTT	p.P161L	FUK_uc010vmb.1_Missense_Mutation_p.P144L|FUK_uc010cft.2_Missense_Mutation_p.P193L|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	161						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCTGCAAATCCTGGTGAGCCT	0.647		NaN											0	0	0	0.008291	0	9	77				
PLCG2	5336	broad.mit.edu	37	16	81929432	81929432	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:81929432G>C	uc002fgt.2	+	13	1245	c.1093G>C	c.(1093-1095)GAT>CAT	p.D365H	PLCG2_uc010chg.1_Missense_Mutation_p.D365H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	365	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GGACGGGCCCGATGGGAAGCC	0.607		NaN											0	0	0	0.00308	0	6	87				
OR1D2	4991	broad.mit.edu	37	17	2995465	2995465	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:2995465T>A	uc010vrb.1	-	1	826	c.826A>T	c.(826-828)ATG>TTG	p.M276L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	276	Helical; Name=7; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACAGCATACATCACTGTGGCT	0.483		NaN											0	0	0	0.000978	0	9	113				
ASGR2	433	broad.mit.edu	37	17	7017471	7017471	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7017471C>T	uc002gep.3	-	2	354	c.89G>A	c.(88-90)AGG>AAG	p.R30K	ASGR2_uc002gem.1_5'UTR|ASGR2_uc002gen.1_Intron|ASGR2_uc002geo.1_Missense_Mutation_p.R30K|ASGR2_uc002ger.3_Missense_Mutation_p.R30K|ASGR2_uc002geq.3_Intron|ASGR2_uc010clw.2_Intron|ASGR2_uc010vtl.1_Intron	NM_001181	NP_001172	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	30	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)	GGGATTCAGCCTGCGAGTGCC	0.493		NaN											0	0	0	0.001855	0	11	115				
DVL2	1856	broad.mit.edu	37	17	7131015	7131015	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7131015G>A	uc002gez.1	-	11	1472	c.1190C>T	c.(1189-1191)TCC>TTC	p.S397F	DVL2_uc010vtr.1_Missense_Mutation_p.S391F	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	397					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						GCTCATGGAGGAGGAACCTGG	0.597		NaN											0	0	0	0.004672	0	3	37				
SAT2	112483	broad.mit.edu	37	17	7530510	7530510	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7530510G>C	uc002gic.2	-	3	394	c.153C>G	c.(151-153)TTC>TTG	p.F51L	SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SHBG_uc010cmu.2_Intron|SAT2_uc002gib.1_RNA|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	diamine N-acetyltransferase 2	51	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)			0				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AACAGTGATAGAAAGGATTGT	0.547		NaN											0	0	0	0.00308	0	7	80				
DNAH2	146754	broad.mit.edu	37	17	7643790	7643790	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7643790T>C	uc002giu.1	+	9	1443	c.1429T>C	c.(1429-1431)TCA>CCA	p.S477P	DNAH2_uc002git.2_Missense_Mutation_p.S559P|DNAH2_uc010vuk.1_Missense_Mutation_p.S477P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	477	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGATCACCTCAGCCTTCGA	0.667		NaN											0	0	0	0.004007	0	13	219				
DNAH2	146754	broad.mit.edu	37	17	7674653	7674653	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7674653C>T	uc002giu.1	+	27	4382	c.4368C>T	c.(4366-4368)ATC>ATT	p.I1456I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1456	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCAGAATATCTTCCTAGGAG	0.512		NaN											0	0	0	0.00632	0	20	152				
SPDYE4	388333	broad.mit.edu	37	17	8659711	8659711	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:8659711C>T	uc010cnz.1	-	3	561	c.384G>A	c.(382-384)CTG>CTA	p.L128L		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	speedy homolog E4	128											0						CTGACACCCTCAGGTCTTTGT	0.527		NaN											0	0	0	0.004007	0	14	156				
TOM1L2	146691	broad.mit.edu	37	17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:17754256G>A	uc002grz.3	-	13	1446	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V	TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	430					intracellular protein transport	intracellular					0	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587		NaN											0	0	0	0.004007	0	14	121				
EPN2	22905	broad.mit.edu	37	17	19186762	19186762	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19186762G>C	uc002gvd.3	+	3	778	c.330G>C	c.(328-330)CAG>CAC	p.Q110H	EPN2_uc002gvc.2_Missense_Mutation_p.Q110H|EPN2_uc010vyn.1_Missense_Mutation_p.Q110H|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.Q110H|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.Q110H|EPN2_uc010vyp.1_Missense_Mutation_p.Q110H|EPN2_uc010vyq.1_Missense_Mutation_p.Q110H|EPN2_uc002gvh.1_Missense_Mutation_p.Q110H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	110	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGGACTTCCAGTACATTGACC	0.567		NaN											0	0	0	0.004482	0	7	87				
ULK2	9706	broad.mit.edu	37	17	19689285	19689285	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19689285C>G	uc002gwm.3	-	21	2725	c.2216G>C	c.(2215-2217)TGT>TCT	p.C739S	ULK2_uc002gwn.2_Missense_Mutation_p.C739S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	739					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CATGTGGGTACAAGTGGGGGC	0.478		NaN											0	0	0	0.001984	0	7	62				
NLK	51701	broad.mit.edu	37	17	26449721	26449721	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:26449721G>A	uc010crj.2	+	2	763	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	184	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGGTCTTCCGGGAATTGAAG	0.393		NaN											0	0	0	0.00308	0	7	90				
ATAD5	79915	broad.mit.edu	37	17	29220310	29220310	+	Splice_Site	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29220310A>T	uc002hfs.1	+	21	4787	c.4441_splice	c.e21-2	p.H1481_splice		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTGTTTTTCAGCACAAAATC	0.294		NaN											0	0	0	0.00361	0	61	253				
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29857477C>T	uc002hgn.1	+	14	2016	c.1787C>T	c.(1786-1788)TCG>TTG	p.S596L	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582		NaN											0	0	0	0.001855	0	11	146				
CCT6B	10693	broad.mit.edu	37	17	33285634	33285634	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:33285634G>A	uc002hig.2	-	3	375	c.281C>T	c.(280-282)TCA>TTA	p.S94L	CCT6B_uc010ctg.2_Missense_Mutation_p.S94L|CCT6B_uc010wcc.1_Intron|ZNF830_uc002hih.3_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	94				S -> T (in Ref. 1; BAA11347).	chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				TAGAACATTTGAAGTAGTACC	0.353		NaN											0	0	0	0.000602	0	4	62				
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39659272G>A	uc002hwu.1	-	4	877	c.814C>T	c.(814-816)CGC>TGC	p.R272C	KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.2_Missense_Mutation_p.R165C|KRT13_uc010wfr.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.2_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602		NaN											0	0	0	0.00361	0	45	701				
KRT17	3872	broad.mit.edu	37	17	39777261	39777261	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39777261G>C	uc002hxh.2	-	5	1038	c.917C>G	c.(916-918)ACC>AGC	p.T306S	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	306	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				GGCCTGCATGGTGCGCCGGAG	0.602		NaN							Steatocystoma_Multiplex				0	0	0	0.00245	0	11	99				
SLC25A39	51629	broad.mit.edu	37	17	42397441	42397441	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:42397441G>A	uc002ign.2	-	12	1162	c.1008C>T	c.(1006-1008)ATC>ATT	p.I336I	SLC25A39_uc002igm.2_Silent_p.I328I|SLC25A39_uc002igo.2_Silent_p.I328I|SLC25A39_uc010wiw.1_Silent_p.I313I|SLC25A39_uc010czu.2_Silent_p.I204I	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	336	Solcar 3.|Helical; Name=6; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGATCATGATGGCACAGG	0.617		NaN											0	0	0	0.007413	0	15	130				
SPAG9	9043	broad.mit.edu	37	17	49043730	49043730	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:49043730G>A	uc002itc.2	-	30	4078	c.3869C>T	c.(3868-3870)TCA>TTA	p.S1290L	SPAG9_uc002itb.2_Missense_Mutation_p.S1276L|SPAG9_uc002itd.2_Missense_Mutation_p.S1280L|SPAG9_uc002ita.2_Missense_Mutation_p.S1146L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1290					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGAAGTTCTGATTCTCCACC	0.418		NaN											0	0	0	0.003163	0	12	160				
NOG	9241	broad.mit.edu	37	17	54672146	54672146	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:54672146G>A	uc002iup.2	+	1	1087	c.562G>A	c.(562-564)GAG>AAG	p.E188K		NM_005450	NP_005441	Q13253	NOGG_HUMAN	noggin precursor	188					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity				0	Breast(9;5.24e-08)					CTCCGTGCCCGAGGGCATGGT	0.687		NaN											0	0	0	0.000602	0	3	33				
MED13	9969	broad.mit.edu	37	17	60032756	60032756	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60032756G>C	uc002izo.2	-	26	6032	c.5955C>G	c.(5953-5955)TTC>TTG	p.F1985L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1985					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TGTTGGGATTGAAAGCTAAAT	0.244		NaN											0	0	0	0.008291	0	9	53				
MED13	9969	broad.mit.edu	37	17	60059762	60059762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059762G>T	uc002izo.2	-	16	3679	c.3602C>A	c.(3601-3603)TCA>TAA	p.S1201*		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1201					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TCCAAAGGGTGAAAATAAATT	0.388		NaN											1	0	1.06961e-07	0.00308	1.1503e-07	8	134				
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059866G>T	uc002izo.2	-	16	3575	c.3498C>A	c.(3496-3498)CTC>CTA	p.L1166L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AGGTAGCCCTGAGAGCTTCAA	0.348		NaN											1	0	2.27111e-07	0.001368	2.43194e-07	13	134				
CD300LB	124599	broad.mit.edu	37	17	72518922	72518922	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:72518922G>C	uc002jkx.2	-	4	685	c.672C>G	c.(670-672)ATC>ATG	p.I224M		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	187	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						AGTTCATGTAGATAGGCTGTT	0.537		NaN											0	0	0	0.000978	0	9	116				
TMC8	147138	broad.mit.edu	37	17	76136966	76136966	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76136966G>C	uc002jup.2	+	16	2336	c.1954G>C	c.(1954-1956)GAG>CAG	p.E652Q	TMC8_uc002juq.2_Missense_Mutation_p.E429Q	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	652	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCTGCCGGAGCCAGGCCC	0.682		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.009096	0	3	34				
DNAH17	8632	broad.mit.edu	37	17	76548800	76548800	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76548800T>C	uc002jvv.1	-	11	1478	c.1372A>G	c.(1372-1374)ACA>GCA	p.T458A						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATAATGTCGTTTCAGCG	0.428		NaN											0	0	0	0.000978	0	11	279				
ABHD3	171586	broad.mit.edu	37	18	19239256	19239256	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:19239256C>T	uc002ktl.2	-	6	857	c.717G>A	c.(715-717)TTG>TTA	p.L239L	ABHD3_uc002ktm.2_Silent_p.L186L|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_Silent_p.L44L|ABHD3_uc002ktn.2_Silent_p.L16L	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	239						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CAGCTGCCATCAAAGGCGTTT	0.393		NaN											0	0	0	0.001984	0	7	108				
SLC39A6	25800	broad.mit.edu	37	18	33706705	33706705	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:33706705C>G	uc010dmy.2	-	2	556	c.266G>C	c.(265-267)AGA>ACA	p.R89T	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	89	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TATATGGATTCTTTTAATCTT	0.169		NaN											0	0	0	0.009096	0	4	27				
SYT4	6860	broad.mit.edu	37	18	40850420	40850420	+	Silent	SNP	G	G	A	rs117568424	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:40850420G>A	uc002law.2	-	4	1533	c.1164C>T	c.(1162-1164)ATC>ATT	p.I388I	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.I370I|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	388	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						CTAACTGCCCGATTACCTCAT	0.473		NaN											0	0	0	0.001168	0	6	145				
ACAA2	10449	broad.mit.edu	37	18	47320775	47320775	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:47320775G>A	uc002ldw.3	-	5	849	c.452C>T	c.(451-453)TCA>TTA	p.S151L	ACAA2_uc002ldx.3_Missense_Mutation_p.S148L	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	151					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						ATCTGTTAATGATACCCATAA	0.328		NaN											0	0	0	0.009096	0	3	44				
ZNF407	55628	broad.mit.edu	37	18	72343115	72343115	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343115C>T	uc002llw.2	+	1	197	c.140C>T	c.(139-141)TCT>TTT	p.S47F	ZNF407_uc010xfc.1_Missense_Mutation_p.S47F|ZNF407_uc010dqu.1_Missense_Mutation_p.S47F|ZNF407_uc002llu.2_Missense_Mutation_p.S46F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCTGAGAATTCTATGGGCAAA	0.388		NaN											0	0	0	0.004672	0	3	33				
ZNF407	55628	broad.mit.edu	37	18	72343658	72343658	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343658C>T	uc002llw.2	+	1	740	c.683C>T	c.(682-684)TCA>TTA	p.S228L	ZNF407_uc010xfc.1_Missense_Mutation_p.S228L|ZNF407_uc010dqu.1_Missense_Mutation_p.S228L|ZNF407_uc002llu.2_Missense_Mutation_p.S227L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	228	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGCAGCTCAGCACTACAT	0.438		NaN											0	0	0	0.004007	0	17	151				
ZNF407	55628	broad.mit.edu	37	18	72343946	72343946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343946G>A	uc002llw.2	+	1	1028	c.971G>A	c.(970-972)GGA>GAA	p.G324E	ZNF407_uc010xfc.1_Missense_Mutation_p.G324E|ZNF407_uc010dqu.1_Missense_Mutation_p.G324E|ZNF407_uc002llu.2_Missense_Mutation_p.G323E	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAATGTGGGAAGCACGTTT	0.343		NaN											0	0	0	0.001368	0	10	114				
ELAVL1	1994	broad.mit.edu	37	19	8056716	8056716	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:8056716C>G	uc002mjb.2	-	2	152	c.-15_splice	c.e2-1			NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1						3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TTTCAAAAATCTGCCAAGAGA	0.373		NaN											0	0	0	0.001984	0	6	30				
CC2D1A	54862	broad.mit.edu	37	19	14028882	14028882	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14028882G>A	uc002mxo.2	+	7	1048	c.749_splice	c.e7-1	p.G250_splice	CC2D1A_uc002mxn.2_Splice_Site_p.G149_splice|CC2D1A_uc002mxp.2_Splice_Site_p.G250_splice|CC2D1A_uc010dzh.2_Splice_Site|CC2D1A_uc002mxq.1_5'Flank	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTCCCTTCCAGGTCCCTGCAG	0.517		NaN											0	0	0	0.006214	0	7	42				
OR7C1	26664	broad.mit.edu	37	19	14910386	14910386	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910386G>A	uc010xnz.1	-	1	563	c.563C>T	c.(562-564)GCC>GTC	p.A188V		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	188	Extracellular (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						GTCAGAACAGGCGAGCTTCAG	0.423		NaN											0	0	0	0.000978	0	8	113				
OR7C1	26664	broad.mit.edu	37	19	14910475	14910475	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910475G>C	uc010xnz.1	-	1	474	c.474C>G	c.(472-474)CTC>CTG	p.L158L		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	158	Helical; Name=4; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TCAAGGTCTCGAGCAGGGAAC	0.522		NaN											0	0	0	0.004482	0	8	157				
OR7C1	26664	broad.mit.edu	37	19	14910879	14910879	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910879G>T	uc010xnz.1	-	1	70	c.70C>A	c.(70-72)CAG>AAG	p.Q24K		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	24	Extracellular (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGAATGAACTGAATCTCTGAC	0.468		NaN											1	0	3.59834e-05	0.001168	3.78812e-05	6	159				
OR7A17	26333	broad.mit.edu	37	19	14992003	14992003	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14992003G>C	uc010xob.1	-	1	165	c.165C>G	c.(163-165)CTC>CTG	p.L55L		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					TGGGGGTGTGGAGGTGGGAGT	0.498		NaN											0	0	0	0.00308	0	6	81				
AKAP8L	26993	broad.mit.edu	37	19	15508413	15508413	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:15508413C>T	uc002naw.1	-	11	1422	c.1323G>A	c.(1321-1323)AAG>AAA	p.K441K	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.K380K	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	441						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						CCTCTGTCTTCTTGGTCTTGT	0.502		NaN											0	0	0	0.001984	0	5	38				
CRLF1	9244	broad.mit.edu	37	19	18709341	18709341	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709341C>T	uc010ebt.1	-	4	792	c.598G>A	c.(598-600)GAC>AAC	p.D200N		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	200	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						AGAGCCAGGTCCTTGGGGATG	0.622		NaN											0	0	0	0.007413	0	13	148				
CRLF1	9244	broad.mit.edu	37	19	18709383	18709383	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709383C>T	uc010ebt.1	-	4	750	c.556G>A	c.(556-558)GAG>AAG	p.E186K		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	186	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						GTGTGGTACTCCTCACATGTG	0.632		NaN											0	0	0	0.001882	0	20	150				
CRLF1	9244	broad.mit.edu	37	19	18709656	18709656	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709656C>G	uc010ebt.1	-	3	647	c.453G>C	c.(451-453)TTG>TTC	p.L151F		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	151	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						AGCGGCAGGTCAAGTCCTTCA	0.607		NaN											0	0	0	0.000978	0	8	90				
C19orf12	83636	broad.mit.edu	37	19	30199175	30199175	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:30199175G>A	uc002nsk.2	-	2	577	c.146C>T	c.(145-147)CCG>CTG	p.P49L	C19orf12_uc002nsj.2_Missense_Mutation_p.P60L|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	49	Helical; (Potential).					integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGCGAGTCCCGGTGGGCCGCC	0.572		NaN											0	0	0	0.002836	0	23	106				
RGS9BP	388531	broad.mit.edu	37	19	33167295	33167295	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:33167295G>C	uc002ntp.1	+	1	983	c.126G>C	c.(124-126)AAG>AAC	p.K42N	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	RGS9 anchor protein	42	Potential.|Cytoplasmic (Potential).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)	1	Esophageal squamous(110;0.137)					AGCTGCAAAAGACGCGCCAGA	0.701		NaN											0	0	0	0.004672	0	3	27				
ZFP30	22835	broad.mit.edu	37	19	38126715	38126715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38126715C>T	uc002ogv.1	-	6	1243	c.727G>A	c.(727-729)GAA>AAA	p.E243K	ZFP30_uc002ogw.1_Missense_Mutation_p.E243K|ZFP30_uc002ogx.1_Missense_Mutation_p.E243K|ZFP30_uc010xtt.1_Missense_Mutation_p.E242K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	243	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTACATTCATACGGCTTC	0.388		NaN											0	0	0	0.010504	0	19	52				
KCNK6	9424	broad.mit.edu	37	19	38817601	38817601	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38817601C>T	uc002oic.2	+	2	801	c.691C>T	c.(691-693)CGG>TGG	p.R231W	KCNK6_uc002oid.2_Missense_Mutation_p.R97W	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	231						voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCAGCCCTACCGGGCCCTCTA	0.627		NaN											0	0	0	0.00499	0	16	125				
PLEKHG2	64857	broad.mit.edu	37	19	39915786	39915786	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:39915786C>T	uc010xuz.1	+	19	4338	c.4013C>T	c.(4012-4014)ACG>ATG	p.T1338M	PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.T1116M	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1338					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TATGCCACGACGGTTAACATC	0.692		NaN											0	0	0	0.000602	0	4	40				
ATP1A3	478	broad.mit.edu	37	19	42490310	42490310	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:42490310C>T	uc002osg.2	-	5	583	c.429G>A	c.(427-429)AAG>AAA	p.K143K	ATP1A3_uc010xwf.1_Silent_p.K154K|ATP1A3_uc010xwg.1_Silent_p.K113K|ATP1A3_uc010xwh.1_Silent_p.K156K|ATP1A3_uc002osh.2_Silent_p.K143K	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	143	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TCTTGGAGCTCTTGGCCTCCT	0.607		NaN											0	0	0	0.006122	0	15	155				
PSG8	440533	broad.mit.edu	37	19	43259327	43259327	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:43259327C>A	uc002ouo.2	-	4	899	c.801G>T	c.(799-801)GAG>GAT	p.E267D	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.E106D|PSG8_uc002ouh.2_Missense_Mutation_p.E267D|PSG8_uc010ein.2_Missense_Mutation_p.E145D|PSG8_uc002ouj.3_Missense_Mutation_p.E49D|PSG8_uc002ouk.3_Missense_Mutation_p.E106D|PSG8_uc002oul.3_Missense_Mutation_p.E267D|PSG8_uc002oum.3_Missense_Mutation_p.E174D|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.E174D	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	267	Ig-like C2-type 2.					extracellular region					0		Prostate(69;0.00899)				AGGTGTAGTTCTCACTCTTAG	0.483		NaN											1	0	4.59853e-10	0.005443	5.02115e-10	17	253				
ZNF285	26974	broad.mit.edu	37	19	44891132	44891132	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:44891132C>T	uc002ozd.3	-	4	1362	c.1275G>A	c.(1273-1275)GAG>GAA	p.E425E	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.E432E	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TATATGGTTTCTCCCCTGTGT	0.493		NaN											0	0	0	0.006214	0	8	67				
SFRS16	11129	broad.mit.edu	37	19	45563675	45563675	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:45563675G>A	uc002pak.2	+	9	837	c.739G>A	c.(739-741)GAG>AAG	p.E247K	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E185K|SFRS16_uc002pam.2_Missense_Mutation_p.E247K|SFRS16_uc002pan.1_RNA	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	247					mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGAGGAGGCAGAGGCCATCAA	0.587		NaN											0	0	0	0.008291	0	8	105				
PPFIA3	8541	broad.mit.edu	37	19	49643260	49643260	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49643260G>A	uc002pmr.2	+	18	2615	c.2283G>A	c.(2281-2283)AAG>AAA	p.K761K	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.K629K|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	761						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGAAGAAGAGCATCAAGT	0.557		NaN											0	0	0	0.004482	0	8	161				
DKKL1	27120	broad.mit.edu	37	19	49867919	49867919	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49867919G>A	uc002pnk.2	+	2	305	c.91G>A	c.(91-93)GCT>ACT	p.A31T	TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	31					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCTGCAGCTCCTATCCA	0.622		NaN											0	0	0	0.008291	0	8	89				
VRK3	51231	broad.mit.edu	37	19	50510925	50510925	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50510925C>T	uc002prg.2	-	5	546	c.448G>A	c.(448-450)GAA>AAA	p.E150K	VRK3_uc002prh.1_Missense_Mutation_p.E150K|VRK3_uc002pri.1_Missense_Mutation_p.E100K|VRK3_uc010ens.2_Missense_Mutation_p.E150K|VRK3_uc010ybl.1_Missense_Mutation_p.E100K|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.E100K|VRK3_uc002prk.1_Missense_Mutation_p.E150K|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.E150K|VRK3_uc010ybn.1_Missense_Mutation_p.E150K	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	150						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAAAGCTTCAAGTGAGGTG	0.582		NaN											0	0	0	0.00308	0	7	152				
C19orf41	126123	broad.mit.edu	37	19	50666221	50666221	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50666221C>A	uc002prp.1	-	1	318	c.231G>T	c.(229-231)GTG>GTT	p.V77V		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	77	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		AACACGCACCCACTTTCCCCA	0.682		NaN											1	0	0.000157383	0.00308	0.000163955	5	69				
ZNF347	84671	broad.mit.edu	37	19	53644299	53644299	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:53644299C>T	uc002qbb.1	-	5	1851	c.1782G>A	c.(1780-1782)GAG>GAA	p.E594E	ZNF347_uc010eql.1_Silent_p.E595E|ZNF347_uc002qbc.1_Silent_p.E595E	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TATAAGGTTTCTCTCCAGTAT	0.388		NaN											0	0	0	0.010504	0	17	151				
PRKCG	5582	broad.mit.edu	37	19	54410095	54410095	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:54410095C>A	uc002qcq.1	+	18	2322	c.2040C>A	c.(2038-2040)TTC>TTA	p.F680L	PRKCG_uc010yeg.1_Missense_Mutation_p.F680L|PRKCG_uc010yeh.1_Missense_Mutation_p.F531L	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	680	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGACTTCGTGCACCCGG	0.687		NaN									OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.80697e-09	0.000978	3.05159e-09	10	139				
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:56896256C>G	uc002qmz.1	-	5	689	c.530G>C	c.(529-531)AGA>ACA	p.R177T	ZNF582_uc002qmy.2_Missense_Mutation_p.R208T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328		NaN											0	0	0	0.004672	0	3	41				
SLC27A5	10998	broad.mit.edu	37	19	59022230	59022230	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:59022230G>A	uc002qtc.2	-	2	866	c.756C>T	c.(754-756)CTC>CTT	p.L252L		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	252	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGTATGGCTGAGGTAGAAGC	0.632		NaN											0	0	0	0.004672	0	3	37				
UBXN2A	165324	broad.mit.edu	37	2	24194153	24194153	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:24194153G>A	uc010exy.2	+	4	517	c.49G>A	c.(49-51)GAA>AAA	p.E17K	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.E17K|UBXN2A_uc010ykj.1_Missense_Mutation_p.E17K	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	17											0						TAGGGTTTGTGAAACAGGATC	0.308		NaN											0	0	0	0.004482	0	7	100				
MAPRE3	22924	broad.mit.edu	37	2	27248831	27248831	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27248831C>G	uc002rhw.2	+	6	861	c.708C>G	c.(706-708)ATC>ATG	p.I236M	MAPRE3_uc002rhx.2_Missense_Mutation_p.I221M	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family,	236	APC-binding.|EB1 C-terminal.|DCTN1-binding.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGCTCATCTGCCAGGAGC	0.537		NaN											0	0	0	0.003163	0	12	90				
C2orf16	84226	broad.mit.edu	37	2	27805353	27805353	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27805353C>T	uc002rkz.3	+	1	5965	c.5914C>T	c.(5914-5916)CCC>TCC	p.P1972S	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1972										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					ACATAAAAATCCCAAAGCAGG	0.507		NaN											0	0	0	0.003954	0	19	188				
CCDC121	79635	broad.mit.edu	37	2	27850025	27850025	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27850025C>G	uc002rle.2	-	2	823	c.642G>C	c.(640-642)CAG>CAC	p.Q214H	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.Q378H|CCDC121_uc002rld.2_Missense_Mutation_p.Q376H|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	214	Potential.										0	Acute lymphoblastic leukemia(172;0.155)					CCGTTAGTTTCTGGGCTTGCT	0.478		NaN											0	0	0	0.004482	0	9	38				
SLC4A1AP	22950	broad.mit.edu	37	2	27900720	27900720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27900720G>A	uc002rlk.3	+	8	1974	c.1692G>A	c.(1690-1692)CTG>CTA	p.L564L		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	564						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					CTTTTGAACTGAGGAAAGAAC	0.358		NaN											0	0	0	0.000978	0	10	68				
NLRC4	58484	broad.mit.edu	37	2	32475775	32475775	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32475775G>C	uc002roi.2	-	4	1404	c.1158C>G	c.(1156-1158)TTC>TTG	p.F386L	NLRC4_uc002roj.1_Missense_Mutation_p.F386L|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	386	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTCCGAATGAAGTCACTTG	0.468		NaN											0	0	0	0.008291	0	9	56				
BIRC6	57448	broad.mit.edu	37	2	32668572	32668572	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32668572G>T	uc010ezu.2	+	20	4386	c.4252G>T	c.(4252-4254)GAC>TAC	p.D1418Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGCAAATGTGACCCATGTCA	0.333		NaN											1	0	0.004672	0.004672	0.00477731	3	19				
BIRC6	57448	broad.mit.edu	37	2	32670646	32670646	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32670646G>A	uc010ezu.2	+	21	4528	c.4394G>A	c.(4393-4395)GGA>GAA	p.G1465E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1465					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GATCTGGCTGGATGCAGTACA	0.378		NaN											0	0	0	0.00499	0	13	39				
BIRC6	57448	broad.mit.edu	37	2	32673888	32673888	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32673888G>A	uc010ezu.2	+	22	4644	c.4510G>A	c.(4510-4512)GAT>AAT	p.D1504N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1504					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTCACCATTTGATCCAGTCCT	0.313		NaN											0	0	0	0.006122	0	14	54				
ATL2	64225	broad.mit.edu	37	2	38570616	38570616	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:38570616C>G	uc002rqq.2	-	2	187	c.157G>C	c.(157-159)GAG>CAG	p.E53Q	ATL2_uc010ynm.1_Missense_Mutation_p.E35Q|ATL2_uc010ynn.1_Missense_Mutation_p.E35Q|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.E53Q|ATL2_uc002rqr.2_Intron	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	53	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TTCATAACCTCATCAGAATTT	0.338		NaN											0	0	0	0.006214	0	7	65				
NRXN1	9378	broad.mit.edu	37	2	50850623	50850623	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:50850623C>T	uc010fbq.2	-	6	2539	c.1062G>A	c.(1060-1062)ATG>ATA	p.M354I	NRXN1_uc002rxb.3_Missense_Mutation_p.M1I|NRXN1_uc002rxe.3_Missense_Mutation_p.M321I|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTGTGAAGCATCAGTCCAT	0.433		NaN											0	0	0	0.00632	0	22	181				
GPR75	10936	broad.mit.edu	37	2	54081274	54081274	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081274T>C	uc002rxo.3	-	2	891	c.620A>G	c.(619-621)TAT>TGT	p.Y207C	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	207	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCGACCACATAGAGAGACAA	0.507		NaN											0	0	0	0.00308	0	7	117				
GPR75	10936	broad.mit.edu	37	2	54081280	54081280	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081280G>C	uc002rxo.3	-	2	885	c.614C>G	c.(613-615)TCT>TGT	p.S205C	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	205	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACATAGAGAGACAAAATGGC	0.493		NaN											0	0	0	0.004482	0	8	114				
SERTAD2	9792	broad.mit.edu	37	2	64863402	64863402	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:64863402C>T	uc002sde.1	-	2	901	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	202					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						GTGCCAGCCTCGCTGGAGGTC	0.567		NaN											0	0	0	0.005443	0	24	77				
C2orf68	388969	broad.mit.edu	37	2	85836116	85836116	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:85836116G>C	uc002sqc.2	-	4	525	c.453C>G	c.(451-453)CTC>CTG	p.L151L	USP39_uc002sqb.2_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	151										central_nervous_system(1)	1						TACGCAACTTGAGGGCTTCTC	0.552		NaN											0	0	0	0.006214	0	7	115				
TEKT4	150483	broad.mit.edu	37	2	95537570	95537570	+	Silent	SNP	C	C	T	rs66467545		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:95537570C>T	uc002stw.1	+	1	339	c.246C>T	c.(244-246)CGC>CGT	p.R82R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	82					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						TGGCGCAGCGCACGCAGCAAG	0.692		NaN											0	0	0	0.001984	0	4	24				
C2orf55	343990	broad.mit.edu	37	2	99413948	99413948	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:99413948C>T	uc002szf.1	-	8	2763	c.2469G>A	c.(2467-2469)GCG>GCA	p.A823A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	823	Pro-rich.										0						TCCAGGGTGGCGCAGGCTGCC	0.587		NaN											0	0	0	0.004007	0	12	101				
NEB	4703	broad.mit.edu	37	2	152553184	152553184	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:152553184T>C	uc010fnx.2	-	17	1727	c.1536A>G	c.(1534-1536)CTA>CTG	p.L512L	NEB_uc010fny.1_Silent_p.L66L	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	512	Nebulin 12.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGCTTGTAGCAGAACAG	0.403		NaN											0	0	0	0.001168	0	5	59				
TTN	7273	broad.mit.edu	37	2	179482573	179482573	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179482573G>A	uc010zfg.1	-	202	40025	c.39801C>T	c.(39799-39801)GCC>GCT	p.A13267A	TTN_uc010zfh.1_Silent_p.A6962A|TTN_uc010zfi.1_Silent_p.A6895A|TTN_uc010zfj.1_Silent_p.A6770A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGATTTTGGGCTCTCACTC	0.463		NaN											0	0	0	0.004482	0	9	96				
TTN	7273	broad.mit.edu	37	2	179497319	179497319	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179497319C>G	uc010zfg.1	-	184	35934	c.35710G>C	c.(35710-35712)GAA>CAA	p.E11904Q	TTN_uc010zfh.1_Missense_Mutation_p.E5599Q|TTN_uc010zfi.1_Missense_Mutation_p.E5532Q|TTN_uc010zfj.1_Missense_Mutation_p.E5407Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12831							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCATCTTCAAAAGCAGCT	0.388		NaN											0	0	0	0.001855	0	14	113				
TTN	7273	broad.mit.edu	37	2	179575936	179575936	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179575936C>G	uc010zfg.1	-	94	24519	c.24295G>C	c.(24295-24297)GAC>CAC	p.D8099H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4760H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9026							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTGTCTTTCAATGGC	0.423		NaN											0	0	0	0.00333	0	17	227				
TTN	7273	broad.mit.edu	37	2	179577067	179577067	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179577067G>T	uc010zfg.1	-	92	24074	c.23850C>A	c.(23848-23850)TCC>TCA	p.S7950S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4611S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8877							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCTGAACAGGAATCTTTTC	0.388		NaN											1	0	4.47668e-21	0.003954	4.9752e-21	20	243				
CCDC141	285025	broad.mit.edu	37	2	179720159	179720159	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179720159T>A	uc002unf.1	-	9	1307	c.1250A>T	c.(1249-1251)AAA>ATA	p.K417I		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	417							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCACATGTTTTTGCAAATC	0.343		NaN											0	0	0	0.000602	0	4	73				
NEUROD1	4760	broad.mit.edu	37	2	182543034	182543034	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:182543034G>A	uc002uof.2	-	2	790	c.554C>T	c.(553-555)GCG>GTG	p.A185V	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGGCAGCCCGCAACCAGGTT	0.612		NaN											0	0	0	0.001168	0	6	59				
NUP35	129401	broad.mit.edu	37	2	183993048	183993048	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:183993048C>T	uc002upf.2	+	2	177	c.74C>T	c.(73-75)TCT>TTT	p.S25F	NUP35_uc010zfs.1_Missense_Mutation_p.S7F|NUP35_uc010zft.1_5'UTR|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	25					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0						TCACCCACATCTCCAAAGCCA	0.418		NaN											0	0	0	0.000602	0	5	55				
WDR75	84128	broad.mit.edu	37	2	190333285	190333285	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:190333285G>A	uc002uql.1	+	15	1773	c.1713G>A	c.(1711-1713)CTG>CTA	p.L571L	WDR75_uc002uqm.1_Silent_p.L507L|WDR75_uc002uqn.1_Silent_p.L349L|WDR75_uc002uqo.1_Silent_p.L349L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	571	WD 9.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GGAATCTGCTGAGCTGTGCAT	0.388		NaN											0	0	0	0.008291	0	8	130				
FAM126B	285172	broad.mit.edu	37	2	201853102	201853102	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:201853102C>T	uc002uws.3	-	11	1062	c.874G>A	c.(874-876)GAT>AAT	p.D292N	FAM126B_uc002uwu.2_Missense_Mutation_p.D210N|FAM126B_uc002uwv.2_Missense_Mutation_p.D292N	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	292						intracellular				ovary(1)	1						TGTGTAGAATCAGGAGCATCA	0.378		NaN											0	0	0	0.000978	0	9	89				
MAP2	4133	broad.mit.edu	37	2	210560669	210560669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:210560669G>A	uc002vde.1	+	7	4023	c.3775G>A	c.(3775-3777)GAC>AAC	p.D1259N	MAP2_uc002vdc.1_Missense_Mutation_p.D1259N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.D1255N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1259					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCAGATAACTGACCTGGGTGT	0.483		NaN											0	0	0	0.003163	0	14	84				
TMEM169	92691	broad.mit.edu	37	2	216965210	216965210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:216965210C>G	uc010zjr.1	+	4	1165	c.839C>G	c.(838-840)TCA>TGA	p.S280*	TMEM169_uc010zjs.1_Nonsense_Mutation_p.S280*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S280*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S280*	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	280	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAATATCTCAAGCACTCTC	0.512		NaN											0	0	0	0.00308	0	7	84				
IHH	3549	broad.mit.edu	37	2	219925066	219925066	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:219925066G>A	uc002vjo.1	-	1	124	c.124C>T	c.(124-126)CGC>TGC	p.R42C	hsa-mir-3131|MI0014151_5'Flank	NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	42					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGAGTTTGCGTGGCGGTCGC	0.692		NaN											0	0	0	0.004672	0	3	47				
ABCB6	10058	broad.mit.edu	37	2	220077977	220077977	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:220077977G>A	uc002vkc.1	-	12	2068	c.1791C>T	c.(1789-1791)TTC>TTT	p.F597F	ABCB6_uc010fwe.1_Silent_p.F551F	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	597	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCATAGCTGAAGTGCACGT	0.537		NaN											0	0	0	0.001984	0	6	45				
FASTKD5	60493	broad.mit.edu	37	20	3128235	3128235	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3128235G>C	uc002whz.2	-	2	1793	c.1482C>G	c.(1480-1482)CTC>CTG	p.L494L	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	494					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						ACCCTGGACTGAGAGCGAAAT	0.473		NaN											0	0	0	0.001168	0	6	74				
ATRN	8455	broad.mit.edu	37	20	3562848	3562848	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562848G>A	uc002wim.2	+	16	2701	c.2611G>A	c.(2611-2613)GAT>AAT	p.D871N	ATRN_uc002wil.2_Missense_Mutation_p.D871N	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	871	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GTGCTGGGAAGATATGTCCCC	0.468		NaN											0	0	0	0.00245	0	12	94				
ATRN	8455	broad.mit.edu	37	20	3562949	3562949	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562949G>A	uc002wim.2	+	16	2802	c.2712G>A	c.(2710-2712)CTG>CTA	p.L904L	ATRN_uc002wil.2_Silent_p.L904L	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	904	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						CTCGGGGACTGAAGGCTGCAA	0.453		NaN											0	0	0	0.006214	0	10	176				
ABHD12	26090	broad.mit.edu	37	20	25275652	25275652	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:25275652G>A	uc002wuq.2	-	13	1310	c.1172C>T	c.(1171-1173)CCA>CTA	p.P391L	ABHD12_uc002wur.2_Missense_Mutation_p.P390L|PYGB_uc002wup.2_Intron	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform b	Error:Variant_position_missing_in_Q8N2K0_after_alignment						integral to membrane	acylglycerol lipase activity			skin(1)	1						GCTGGAACCTGGGCCCTGCTG	0.473		NaN									OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	9	211				
PIGU	128869	broad.mit.edu	37	20	33222438	33222438	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33222438G>C	uc002xas.2	-	6	710	c.510C>G	c.(508-510)TTC>TTG	p.F170L	PIGU_uc010zul.1_Missense_Mutation_p.F170L|PIGU_uc002xat.2_Missense_Mutation_p.F150L|PIGU_uc010gev.1_RNA	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	170	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0						TAGTCAAAATGAAGAAAGCAA	0.403		NaN											0	0	0	0.008291	0	7	91				
NCOA6	23054	broad.mit.edu	37	20	33356291	33356291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33356291C>A	uc002xav.2	-	6	3061	c.490G>T	c.(490-492)GGA>TGA	p.G164*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.G164*|NCOA6_uc010gew.1_Nonsense_Mutation_p.G164*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	164	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						ATAGGAAATCCCGCCTCCATC	0.458		NaN											1	0	3.52763e-06	0.00499	3.7613e-06	14	125				
SRC	6714	broad.mit.edu	37	20	36022668	36022668	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:36022668G>A	uc002xgx.2	+	7	990	c.541G>A	c.(541-543)GAG>AAG	p.E181K	SRC_uc002xgy.2_Missense_Mutation_p.E181K	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	181	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGAGAAAGTGAGACCACGAA	0.448		NaN											0	0	0	0.006214	0	8	85				
L3MBTL	26013	broad.mit.edu	37	20	42161536	42161536	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42161536G>C	uc010zwh.1	+	12	1388	c.1342G>C	c.(1342-1344)GAC>CAC	p.D448H	L3MBTL_uc002xkl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkm.2_Missense_Mutation_p.D380H|L3MBTL_uc010ggl.2_Missense_Mutation_p.D380H|L3MBTL_uc002xkn.1_Missense_Mutation_p.D139H|L3MBTL_uc002xko.2_Missense_Mutation_p.D32H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	380	MBT 2.|Interaction with monomethylated and dimethylated peptides.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGCACTTTGACAACTGGGA	0.582		NaN											0	0	0	0.004482	0	9	93				
L3MBTL	26013	broad.mit.edu	37	20	42162962	42162962	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42162962G>A	uc010zwh.1	+	15	1618	c.1572G>A	c.(1570-1572)GAG>GAA	p.E524E	L3MBTL_uc002xkl.2_Silent_p.E456E|L3MBTL_uc002xkm.2_Silent_p.E456E|L3MBTL_uc010ggl.2_Silent_p.E456E|L3MBTL_uc002xkn.1_Silent_p.E215E|L3MBTL_uc002xko.2_Silent_p.E108E	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	456	MBT 3.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGAAGCTGGAGGCTGTGGACC	0.632		NaN											0	0	0	0.004482	0	6	101				
NCOA3	8202	broad.mit.edu	37	20	46255875	46255875	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255875G>A	uc002xtk.2	+	6	692	c.487G>A	c.(487-489)GAA>AAA	p.E163K	NCOA3_uc010ght.1_Missense_Mutation_p.E163K|NCOA3_uc002xtl.2_Missense_Mutation_p.E163K|NCOA3_uc002xtm.2_Missense_Mutation_p.E163K|NCOA3_uc002xtn.2_Missense_Mutation_p.E163K|NCOA3_uc010zyc.1_5'UTR	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	163	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TATCTTACATGAAGAAGACAG	0.313		NaN											0	0	0	0.001168	0	4	67				
NCOA3	8202	broad.mit.edu	37	20	46255881	46255881	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255881G>A	uc002xtk.2	+	6	698	c.493G>A	c.(493-495)GAC>AAC	p.D165N	NCOA3_uc010ght.1_Missense_Mutation_p.D165N|NCOA3_uc002xtl.2_Missense_Mutation_p.D165N|NCOA3_uc002xtm.2_Missense_Mutation_p.D165N|NCOA3_uc002xtn.2_Missense_Mutation_p.D165N|NCOA3_uc010zyc.1_5'UTR	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	165	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						ACATGAAGAAGACAGAAAGGA	0.308		NaN											0	0	0	0.009096	0	4	63				
CSE1L	1434	broad.mit.edu	37	20	47706239	47706239	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47706239G>A	uc002xty.2	+	19	2271	c.2137G>A	c.(2137-2139)GAA>AAA	p.E713K	CSE1L_uc010zyg.1_Missense_Mutation_p.E496K|CSE1L_uc010ghx.2_Missense_Mutation_p.E657K|CSE1L_uc010ghy.2_Missense_Mutation_p.E334K|CSE1L_uc010zyh.1_Missense_Mutation_p.E362K	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	713					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGCATTCTTAGAACGCGGTTC	0.418		NaN											0	0	0	0.006214	0	7	108				
STAU1	6780	broad.mit.edu	37	20	47734330	47734330	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47734330C>T	uc002xud.2	-	11	1904	c.1493G>A	c.(1492-1494)AGA>AAA	p.R498K	STAU1_uc002xua.2_Missense_Mutation_p.R417K|STAU1_uc002xub.2_Missense_Mutation_p.R423K|STAU1_uc002xuc.2_Missense_Mutation_p.R417K|STAU1_uc002xue.2_Missense_Mutation_p.R417K|STAU1_uc002xuf.2_Missense_Mutation_p.R423K|STAU1_uc002xug.2_Missense_Mutation_p.R498K	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	498						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCCTGGACTCTGGAAAGATA	0.498		NaN											0	0	0	0.006214	0	9	68				
APCDD1L	164284	broad.mit.edu	37	20	57042196	57042196	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:57042196G>T	uc002xze.1	-	3	893	c.707C>A	c.(706-708)CCC>CAC	p.P236H	APCDD1L_uc010zzp.1_Missense_Mutation_p.P247H	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	236						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTAGCCCGTGGGCCGGTAGTG	0.731		NaN											1	0	3.32936e-07	0.006122	3.5575e-07	14	81				
TIAM1	7074	broad.mit.edu	37	21	32617916	32617916	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:32617916G>T	uc002yow.1	-	7	1944	c.1472C>A	c.(1471-1473)CCC>CAC	p.P491H	TIAM1_uc011adk.1_Missense_Mutation_p.P491H|TIAM1_uc011adl.1_Missense_Mutation_p.P491H|TIAM1_uc002yox.1_Missense_Mutation_p.P99H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	491	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGCGTGTTTGGGGATGCTGTT	0.552		NaN											1	0	4.096e-09	0.001168	4.44327e-09	5	56				
UMODL1	89766	broad.mit.edu	37	21	43496222	43496222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43496222G>A	uc002zaf.1	+	2	185	c.185G>A	c.(184-186)GGC>GAC	p.G62D	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.G62D|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	62	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						GTGTCCTGCGGCGGCTGGATC	0.607		NaN											0	0	0	0.001168	0	5	77				
ABCG1	9619	broad.mit.edu	37	21	43691217	43691217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43691217C>G	uc002zaq.2	+	3	430	c.324C>G	c.(322-324)TTC>TTG	p.F108L	ABCG1_uc002zan.2_Missense_Mutation_p.F110L|ABCG1_uc002zam.2_Missense_Mutation_p.F86L|ABCG1_uc002zao.2_Missense_Mutation_p.F105L|ABCG1_uc002zap.2_Missense_Mutation_p.F108L|ABCG1_uc002zar.2_Missense_Mutation_p.F119L|ABCG1_uc011aev.1_Missense_Mutation_p.F119L	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	108	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CCGGGAAGTTCAATAGTGGTG	0.473		NaN											0	0	0	0.003163	0	12	125				
CRYBB3	1417	broad.mit.edu	37	22	25599847	25599847	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:25599847C>G	uc003abo.1	+	4	384	c.312C>G	c.(310-312)CTC>CTG	p.L104L		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	104	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens				0						TTCTGTCCCTCCGGCCTCTGA	0.582		NaN											0	0	0	0.002836	0	27	260				
PLA2G3	50487	broad.mit.edu	37	22	31533774	31533774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:31533774G>A	uc003aka.2	-	4	1117	c.988C>T	c.(988-990)CAG>TAG	p.Q330*		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	330					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						ATAGGGTCCTGGAGGGCTGTG	0.627		NaN											0	0	0	0.003163	0	12	176				
MYH9	4627	broad.mit.edu	37	22	36712697	36712697	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:36712697C>T	uc003apg.2	-	12	1476	c.1245G>A	c.(1243-1245)GAG>GAA	p.E415E	MYH9_uc003aph.1_Silent_p.E279E	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	415	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGGCCAAGGCCTCGATGGCAA	0.478		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.001168	0	5	59				
ADSL	158	broad.mit.edu	37	22	40755278	40755278	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:40755278C>G	uc003ayp.3	+	6	728	c.669C>G	c.(667-669)GAC>GAG	p.D223E	ADSL_uc003ays.3_Missense_Mutation_p.D223E|ADSL_uc003ayq.3_Missense_Mutation_p.D223E|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.D208E|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	223					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						AGCAGCTTGACAAGATGGTGA	0.443		NaN											0	0	0	0.00499	0	13	186				
SCUBE1	80274	broad.mit.edu	37	22	43619192	43619192	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:43619192G>A	uc003bdt.1	-	11	1326	c.1238C>T	c.(1237-1239)ACC>ATC	p.T413I		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	413					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGGGGGGAGGTCTTGGCGCG	0.642		NaN											0	0	0	0.008871	0	15	205				
HRH1	3269	broad.mit.edu	37	3	11301168	11301168	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:11301168C>T	uc010hdr.2	+	2	787	c.445C>T	c.(445-447)CTG>TTG	p.L149L	HRH1_uc010hds.2_Silent_p.L149L|HRH1_uc010hdt.2_Silent_p.L149L|HRH1_uc003bwb.3_Silent_p.L149L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	149	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCCACCATTCTGGGGGCCTG	0.542		NaN											0	0	0	0.001168	0	6	97				
NUP210	23225	broad.mit.edu	37	3	13401814	13401814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:13401814G>T	uc003bxv.1	-	15	2193	c.2110C>A	c.(2110-2112)CAG>AAG	p.Q704K	NUP210_uc003bxx.2_Missense_Mutation_p.Q376K	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	704	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CAGTGTTGCTGATAATTCCGG	0.567		NaN											1	0	1.96292e-10	0.010504	2.14802e-10	18	79				
ARPP21	10777	broad.mit.edu	37	3	35729240	35729240	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:35729240C>A	uc003cgb.2	+	6	535	c.271C>A	c.(271-273)CAT>AAT	p.H91N	ARPP21_uc003cga.2_Missense_Mutation_p.H91N|ARPP21_uc011axy.1_Missense_Mutation_p.H91N|ARPP21_uc003cgf.2_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	91						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GGAATCAATTCATTTACAGCT	0.338		NaN											1	0	1.15088e-07	0.004007	1.23503e-07	11	92				
TRANK1	9881	broad.mit.edu	37	3	36896768	36896768	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:36896768C>A	uc003cgj.2	-	3	2965	c.2663G>T	c.(2662-2664)CGC>CTC	p.R888L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1438					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GAACAGAGAGCGCAGATCGCT	0.542		NaN											1	0	9.95505e-16	0.002299	1.1039e-15	21	133				
VILL	50853	broad.mit.edu	37	3	38048129	38048129	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38048129G>A	uc003chj.2	+	19	2681	c.2395G>A	c.(2395-2397)GAA>AAA	p.E799K	VILL_uc003chl.2_Missense_Mutation_p.E799K	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	799	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGCGCCGGGAACAACTGAT	0.657		NaN											0	0	0	0.00278	0	21	74				
DLEC1	9940	broad.mit.edu	37	3	38163892	38163892	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38163892C>G	uc003cho.1	+	37	5278	c.5257C>G	c.(5257-5259)CAC>GAC	p.H1753D	DLEC1_uc003chp.1_Silent_p.L1711L|DLEC1_uc010hgv.1_Missense_Mutation_p.H1756D|DLEC1_uc003chr.1_Missense_Mutation_p.H824D|DLEC1_uc003chs.1_Silent_p.L268L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1753					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGTTGCCTCACCAGCCCTG	0.602		NaN											0	0	0	0.006214	0	7	121				
TRAK1	22906	broad.mit.edu	37	3	42226217	42226217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226217C>A	uc003cky.2	+	4	620	c.404C>A	c.(403-405)TCG>TAG	p.S135*	TRAK1_uc011azh.1_Nonsense_Mutation_p.S135*|TRAK1_uc011azi.1_Nonsense_Mutation_p.S135*|TRAK1_uc003ckz.3_Nonsense_Mutation_p.S61*|TRAK1_uc011azj.1_Nonsense_Mutation_p.S61*|TRAK1_uc003cla.2_Nonsense_Mutation_p.S77*	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	135	Potential.|HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ATCGGCCAGTCGTTGTTGAAG	0.507		NaN											1	0	1.36491e-13	0.001855	1.50684e-13	12	180				
TRAK1	22906	broad.mit.edu	37	3	42226284	42226284	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226284C>T	uc003cky.2	+	4	687	c.471C>T	c.(469-471)ATC>ATT	p.I157I	TRAK1_uc011azh.1_Silent_p.I157I|TRAK1_uc011azi.1_Silent_p.I157I|TRAK1_uc003ckz.3_Silent_p.I83I|TRAK1_uc011azj.1_Silent_p.I83I|TRAK1_uc003cla.2_Silent_p.I99I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	157	Potential.|HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TGGAACACATCAGGGAGGAGG	0.582		NaN											0	0	0	0.000978	0	10	165				
PTH1R	5745	broad.mit.edu	37	3	46942574	46942574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:46942574G>A	uc003cqm.2	+	11	1251	c.1048G>A	c.(1048-1050)GGG>AGG	p.G350R	PTH1R_uc003cqn.2_Missense_Mutation_p.G350R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	350	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GGCCAACACCGGGTAGGTCCA	0.627		NaN							Ollier_disease_/_Maffuci_syndrome				0	0	0	0.004672	0	3	15				
QARS	5859	broad.mit.edu	37	3	49137079	49137079	+	Missense_Mutation	SNP	G	G	A	rs141072684		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:49137079G>A	uc003cvx.2	-	16	1395	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R319C|QARS_uc003cvy.2_Missense_Mutation_p.R319C|QARS_uc011bce.1_Missense_Mutation_p.R453C	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TAGGAAGAGCGTCTGGGGTGG	0.572		NaN											0	0	0	0.00499	0	16	44				
ITIH3	3699	broad.mit.edu	37	3	52836749	52836749	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52836749C>T	uc003dfv.2	+	13	1672	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTGCAGGAGCGGGACTACAT	0.602		NaN											0	0	0	0.006214	0	8	97				
SLMAP	7871	broad.mit.edu	37	3	57908654	57908654	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:57908654G>A	uc003dje.1	+	21	2503	c.2298G>A	c.(2296-2298)TTG>TTA	p.L766L	SLMAP_uc003djd.1_Silent_p.L749L|SLMAP_uc003djf.1_Silent_p.L728L|SLMAP_uc003djg.1_Silent_p.L360L|SLMAP_uc011bez.1_Silent_p.L234L|SLMAP_uc011bfa.1_Silent_p.L300L|SLMAP_uc003dji.1_Silent_p.L300L|SLMAP_uc011bfb.1_Silent_p.L300L|SLMAP_uc011bfc.1_Silent_p.L259L	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	766	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AACTGAAGTTGAAGTTTGAAA	0.368		NaN											0	0	0	0.009096	0	4	77				
CNTN3	5067	broad.mit.edu	37	3	74535680	74535680	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:74535680T>C	uc003dpm.1	-	3	365	c.285A>G	c.(283-285)ACA>ACG	p.T95T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	95	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTAAGTTCCTGTATCCCAAT	0.373		NaN											0	0	0	0.001984	0	5	88				
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:81586104C>T	uc003dqg.2	-	14	2044	c.1761G>A	c.(1759-1761)ATG>ATA	p.M587I	GBE1_uc011bgm.1_Missense_Mutation_p.M546I	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413		NaN							Glycogen_Storage_Disease_type_IV				0	0	0	0.001168	0	5	88				
OR5H2	79310	broad.mit.edu	37	3	98002337	98002337	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98002337A>G	uc003dsj.1	+	1	606	c.606A>G	c.(604-606)CTA>CTG	p.L202L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						TTAATTTTCTAATGGTTTTTA	0.308		NaN											0	0	0	0.003163	0	13	42				
OR5K2	402135	broad.mit.edu	37	3	98217064	98217064	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98217064T>C	uc011bgx.1	+	1	540	c.540T>C	c.(538-540)GAT>GAC	p.D180D		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TTTACTGTGATACTCTTCCCT	0.403		NaN											0	0	0	0.004007	0	13	272				
CLDND1	56650	broad.mit.edu	37	3	98235645	98235645	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98235645T>C	uc003dsp.2	-	5	1500	c.620A>G	c.(619-621)AAT>AGT	p.N207S	CLDND1_uc003dso.2_Intron|CLDND1_uc003dsq.2_Missense_Mutation_p.N207S|CLDND1_uc003dss.2_Missense_Mutation_p.N207S|CLDND1_uc003dsr.2_Missense_Mutation_p.N112S|CLDND1_uc003dst.2_Missense_Mutation_p.N230S|CLDND1_uc003dsu.2_Missense_Mutation_p.N207S|CLDND1_uc003dsv.2_Missense_Mutation_p.N207S	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN	claudin domain containing 1 protein isoform a	207						integral to membrane				ovary(1)	1						ACCGGATACATTGTCAGGGAG	0.478		NaN											0	0	0	0.00499	0	14	69				
RG9MTD1	54931	broad.mit.edu	37	3	101283942	101283942	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:101283942G>C	uc003duz.2	+	2	465	c.317G>C	c.(316-318)AGA>ACA	p.R106T		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	106					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						TTGCTTGGCAGAGAAGTACCA	0.373		NaN											0	0	0	0.001368	0	9	116				
KIAA1524	57650	broad.mit.edu	37	3	108273331	108273331	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:108273331T>C	uc003dxb.3	-	18	2485	c.2216A>G	c.(2215-2217)GAA>GGA	p.E739G		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	739	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TTCAGTACTTTCATTTCTGAA	0.323		NaN											0	0	0	0.004672	0	2	8				
SLC35A5	55032	broad.mit.edu	37	3	112299549	112299549	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:112299549C>T	uc003dze.2	+	6	830	c.585C>T	c.(583-585)TTC>TTT	p.F195F		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	195						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						GCCTTCTTTTCAGAAGTGAGT	0.463		NaN											0	0	0	0.000978	0	10	70				
ZXDC	79364	broad.mit.edu	37	3	126157291	126157291	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:126157291G>A	uc003eiv.2	-	10	2558	c.2504C>T	c.(2503-2505)TCA>TTA	p.S835L	ZXDC_uc010hsh.2_RNA	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	835	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		GCCTCCAGATGAGGGGAGCAC	0.627		NaN											0	0	0	0.000602	0	4	33				
NPHP3	27031	broad.mit.edu	37	3	132418250	132418250	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:132418250C>T	uc003epe.1	-	13	2009	c.1932G>A	c.(1930-1932)GTG>GTA	p.V644V	NPHP3_uc003epd.1_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	644					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CTCTTACATTCACTGGCAGTG	0.323		NaN											0	0	0	0.00308	0	6	58				
SLCO2A1	6578	broad.mit.edu	37	3	133661560	133661560	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:133661560C>T	uc003eqa.3	-	11	1788	c.1514G>A	c.(1513-1515)GGA>GAA	p.G505E	SLCO2A1_uc003eqb.3_Missense_Mutation_p.G429E|SLCO2A1_uc011blv.1_Missense_Mutation_p.G324E	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	505	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AGGGCACGATCCTGTCTTTGC	0.532		NaN											0	0	0	0.008361	0	22	122				
TIPARP	25976	broad.mit.edu	37	3	156395594	156395594	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:156395594G>A	uc003fav.2	+	2	356	c.108G>A	c.(106-108)TTG>TTA	p.L36L	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.L36L	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	36							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCACTCCATTGAAGACTTGTT	0.448		NaN											0	0	0	0.006214	0	8	76				
PIK3CA	5290	broad.mit.edu	37	3	178927486	178927486	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:178927486G>A	uc003fjk.2	+	7	1406	c.1249G>A	c.(1249-1251)GAG>AAG	p.E417K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	417	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGGTGCTAAAGAGGTAAAGTA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.003163	0	14	91		Valid		
MFN1	55669	broad.mit.edu	37	3	179080190	179080190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:179080190G>A	uc003fjs.2	+	5	582	c.456G>A	c.(454-456)TTG>TTA	p.L152L	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L180L|MFN1_uc010hxc.2_Silent_p.L5L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	152	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACAAAGATTTGAAAGCTGGCT	0.383		NaN											0	0	0	0.006214	0	7	94				
MCCC1	56922	broad.mit.edu	37	3	182769981	182769981	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:182769981G>A	uc003fle.2	-	9	1058	c.921C>T	c.(919-921)GTC>GTT	p.V307V	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.V190V|MCCC1_uc003flg.2_Silent_p.V198V|MCCC1_uc011bqp.1_Silent_p.V260V|MCCC1_uc011bqq.1_Silent_p.V198V	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	307	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TAGCAGCTCTGACTGCAGCTT	0.348		NaN											0	0	0	0.008291	0	7	81				
TNK2	10188	broad.mit.edu	37	3	195608974	195608974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:195608974G>A	uc003fvu.1	-	6	1378	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	TNK2_uc003fvs.1_Nonsense_Mutation_p.Q311*|TNK2_uc003fvt.1_Nonsense_Mutation_p.Q342*|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Nonsense_Mutation_p.Q109*|TNK2_uc010hzx.1_Intron	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	279	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGTCATTCTGAGGTAGTGCT	0.602		NaN											0	0	0	0.00308	0	6	77				
GAK	2580	broad.mit.edu	37	4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:844870G>A	uc003gbm.3	-	26	3710	c.3511C>T	c.(3511-3513)CAA>TAA	p.Q1171*	GAK_uc003gbn.3_Nonsense_Mutation_p.Q1092*|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Nonsense_Mutation_p.Q396*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.Q1024*	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.264		NaN											0	0	0	0.000602	0	5	64				
HTT	3064	broad.mit.edu	37	4	3214330	3214330	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:3214330G>A	uc011bvq.1	+	50	6819	c.6674G>A	c.(6673-6675)CGG>CAG	p.R2225Q		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2223					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTGGCCCGGGCCCTGGCA	0.552		NaN											0	0	0	0.008871	0	17	235				
C4orf50	389197	broad.mit.edu	37	4	5961300	5961300	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:5961300G>A	uc003git.1	-	7	723	c.633C>T	c.(631-633)GTC>GTT	p.V211V		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	211										pancreas(2)|breast(1)	3						GTTCCACAGTGACCGCTGCCA	0.577		NaN											0	0	0	0.001984	0	5	44				
KIAA0232	9778	broad.mit.edu	37	4	6843853	6843853	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:6843853G>A	uc003gjr.3	+	4	754	c.291G>A	c.(289-291)AAG>AAA	p.K97K	KIAA0232_uc003gjq.3_Silent_p.K97K	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	97							ATP binding			ovary(2)	2						GAAAGAGTAAGAAAAAATGTT	0.388		NaN											0	0	0	0.000978	0	10	104				
BOD1L	259282	broad.mit.edu	37	4	13605601	13605601	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605601C>G	uc003gmz.1	-	10	3040	c.2923G>C	c.(2923-2925)GAG>CAG	p.E975Q	BOD1L_uc010idr.1_Missense_Mutation_p.E312Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	975	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GAAGCAGTCTCTAATACAGGT	0.378		NaN											0	0	0	0.00499	0	12	177				
BOD1L	259282	broad.mit.edu	37	4	13605643	13605643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605643C>T	uc003gmz.1	-	10	2998	c.2881G>A	c.(2881-2883)GAA>AAA	p.E961K	BOD1L_uc010idr.1_Missense_Mutation_p.E298K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	961	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GGTTTGTCTTCAACTTTAGAC	0.398		NaN											0	0	0	0.006214	0	9	143				
UGDH	7358	broad.mit.edu	37	4	39512009	39512009	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:39512009G>C	uc003guk.1	-	5	943	c.627C>G	c.(625-627)CTC>CTG	p.L209L	UGDH_uc011byp.1_Silent_p.L112L|UGDH_uc003gul.1_Silent_p.L142L	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	209					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	TATTAGTGGTGAGGATCTTTT	0.423		NaN											0	0	0	0.008291	0	7	119				
DCAF4L1	285429	broad.mit.edu	37	4	41984112	41984112	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:41984112C>G	uc003gwk.2	+	1	400	c.303C>G	c.(301-303)ATC>ATG	p.I101M		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	101										skin(1)	1						AGTACGGCATCATCAGCCTGC	0.557		NaN											0	0	0	0.001984	0	6	62				
GABRA2	2555	broad.mit.edu	37	4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	rs76519302		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:46334652G>T	uc003gxc.3	-	3	908	c.235C>A	c.(235-237)CCT>ACT	p.P79T	GABRA2_uc010igc.2_Missense_Mutation_p.P79T|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Missense_Mutation_p.P79T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	79	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTGAGACAGGGCCAAAACTG	0.328		NaN											1	0	1.33987e-11	0.008291	1.47268e-11	7	123				
TEC	7006	broad.mit.edu	37	4	48169865	48169865	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:48169865C>T	uc003gxz.2	-	7	692	c.601G>A	c.(601-603)GAG>AAG	p.E201K		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	201	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						TGGCCTCTCTCTAATCTGAGA	0.403		NaN											0	0	0	0.008291	0	10	141				
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:55958791G>A	uc003has.2	-	22	3364	c.3062C>T	c.(3061-3063)TCG>TTG	p.S1021L	KDR_uc003hat.1_Missense_Mutation_p.S1021L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1021	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.00308	0	7	59				
CEP135	9662	broad.mit.edu	37	4	56819371	56819371	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:56819371G>C	uc003hbi.2	+	3	468	c.234G>C	c.(232-234)TTG>TTC	p.L78F	CEP135_uc003hbh.1_Missense_Mutation_p.L78F|CEP135_uc010igz.1_5'Flank	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	78	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					ATGCAAGATTGAGTAGAGAAA	0.308		NaN											0	0	0	0.000602	0	5	67				
AMBN	258	broad.mit.edu	37	4	71468378	71468378	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:71468378C>T	uc003hfl.2	+	7	644	c.569C>T	c.(568-570)TCA>TTA	p.S190L		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	190	1.				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			CAAGGTCCATCAGTAAGTACA	0.219		NaN											0	0	0	0.004482	0	5	95				
GC	2638	broad.mit.edu	37	4	72634130	72634130	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:72634130C>G	uc003hge.2	-	3	302	c.149G>C	c.(148-150)AGA>ACA	p.R50T	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.R50T|GC_uc010iif.2_Missense_Mutation_p.R69T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	50	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGGAAATTTTCTACTGTACAG	0.388		NaN											0	0	0	0.000602	0	4	59				
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:88766951G>A	uc003hqy.2	+	4	970	c.931G>A	c.(931-933)GAA>AAA	p.E311K	MEPE_uc010ikn.2_Missense_Mutation_p.E198K	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	311					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448		NaN											0	0	0	0.004482	0	8	41				
INTS12	57117	broad.mit.edu	37	4	106614625	106614625	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:106614625C>T	uc003hxw.2	-	5	586	c.328G>A	c.(328-330)GAA>AAA	p.E110K	INTS12_uc010ilr.2_Missense_Mutation_p.E110K	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	110					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAACTCCTTCAGTGATGTCT	0.378		NaN											0	0	0	0.008291	0	9	158				
HADH	3033	broad.mit.edu	37	4	108911132	108911132	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:108911132C>T	uc003hyq.2	+	1	193	c.44C>T	c.(43-45)TCG>TTG	p.S15L	HADH_uc010ilx.2_Missense_Mutation_p.S15L|HADH_uc010ily.2_5'UTR	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	15					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GTGTCCTCCTCGTCCACCGCC	0.687		NaN											0	0	0	0.004672	0	3	37				
SPATA5	166378	broad.mit.edu	37	4	123977578	123977578	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:123977578G>C	uc003iez.3	+	12	2189	c.2116G>C	c.(2116-2118)GAA>CAA	p.E706Q		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	706					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						TGGTGAATCTGAAAGAGCAGT	0.378		NaN											0	0	0	0.00308	0	5	55				
TRIM2	23321	broad.mit.edu	37	4	154237060	154237060	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:154237060C>T	uc003ing.2	+	8	1811	c.1610C>T	c.(1609-1611)ACA>ATA	p.T537I	TRIM2_uc003inh.2_Missense_Mutation_p.T564I	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	537	NHL 2.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCGGCCCACAGGAGTGGCT	0.448		NaN											0	0	0	0.006214	0	7	89				
NPY5R	4889	broad.mit.edu	37	4	164271709	164271709	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164271709C>T	uc003iqn.2	+	4	466	c.284C>T	c.(283-285)TCA>TTA	p.S95L		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	95	Helical; Name=2; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTTTTGCTCACCTTTCACA	0.408		NaN											0	0	0	0.007413	0	18	286				
TKTL2	84076	broad.mit.edu	37	4	164393349	164393349	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164393349C>T	uc003iqp.3	-	1	1699	c.1538G>A	c.(1537-1539)GGA>GAA	p.G513E		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	513						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAGTAACTCCAGCTCCAAT	0.458		NaN											0	0	0	0.006122	0	17	140				
ODZ3	55714	broad.mit.edu	37	4	183673159	183673159	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:183673159T>C	uc003ivd.1	+	19	3873	c.3836T>C	c.(3835-3837)GTG>GCG	p.V1279A	ODZ3_uc003ive.1_Missense_Mutation_p.V692A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1279	NHL 2.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAAGGCCGTGGAAGCCACA	0.463		NaN											0	0	0	0.001168	0	5	23				
TRIO	7204	broad.mit.edu	37	5	14399069	14399069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:14399069C>T	uc003jff.2	+	30	4510	c.4504C>T	c.(4504-4506)CGA>TGA	p.R1502*	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Nonsense_Mutation_p.R1453*|TRIO_uc003jfh.1_Nonsense_Mutation_p.R1151*	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1502	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AACCTTAATTCGAAAGGGTCG	0.398		NaN											0	0	0	0.001855	0	11	137				
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:39392476C>G	uc003jlx.2	-	4	852	c.321G>C	c.(319-321)GAG>GAC	p.E107D	DAB2_uc003jlw.2_Missense_Mutation_p.E107D	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458		NaN											0	0	0	0.009096	0	3	48				
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:45303797C>T	uc003jok.2	-	6	1547	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	508	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTTTTACCCACGGCTCCTTCT	0.393		NaN											0	0	0	0.004007	0	14	92				
GZMA	3001	broad.mit.edu	37	5	54404206	54404206	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404206G>A	uc003jpm.2	+	4	648	c.611G>A	c.(610-612)GGA>GAA	p.G204E		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	204	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCGAGGTGGAAGAGACTCG	0.378		NaN											0	0	0	0.006214	0	7	87				
GZMA	3001	broad.mit.edu	37	5	54404209	54404209	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404209G>A	uc003jpm.2	+	4	651	c.614G>A	c.(613-615)AGA>AAA	p.R205K		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	205	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CGAGGTGGAAGAGACTCGTGC	0.383		NaN											0	0	0	0.008291	0	8	89				
CD180	4064	broad.mit.edu	37	5	66479570	66479570	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:66479570C>G	uc003juy.2	-	3	1249	c.1101G>C	c.(1099-1101)GAG>GAC	p.E367D		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	367	Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTCCTAGTTTCTCCAAGCAGC	0.453		NaN											0	0	0	0.004007	0	14	123				
ARSB	411	broad.mit.edu	37	5	78260315	78260315	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:78260315C>T	uc003kfq.2	-	3	1900	c.614G>A	c.(613-615)GGA>GAA	p.G205E	ARSB_uc003kfr.3_Missense_Mutation_p.G205E	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	205					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATTTTTATATCCTGTTGCAAC	0.373		NaN											0	0	0	0.004482	0	9	60				
CHD1	1105	broad.mit.edu	37	5	98209411	98209411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:98209411G>A	uc003knf.2	-	25	3605	c.3457C>T	c.(3457-3459)CGA>TGA	p.R1153*	CHD1_uc010jbn.2_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCAGCATCTCGAGCAATTGCA	0.338		NaN											0	0	0	0.008291	0	10	90				
TNFAIP8	25816	broad.mit.edu	37	5	118728967	118728967	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:118728967C>T	uc003ksh.2	+	3	1176	c.488C>T	c.(487-489)TCA>TTA	p.S163L	TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.2_Missense_Mutation_p.S153L|TNFAIP8_uc011cwf.1_Missense_Mutation_p.S157L|TNFAIP8_uc003ksi.2_Missense_Mutation_p.S163L	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	163					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GATCATTTTTCAGATTGTGAA	0.388		NaN											0	0	0	0.001984	0	7	122				
PCDHB7	56129	broad.mit.edu	37	5	140552992	140552992	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140552992C>G	uc003lit.2	+	1	750	c.576C>G	c.(574-576)CCC>CCG	p.P192P		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	192	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATCTATCCCGAATTGGTGC	0.493		NaN											0	0	0	0.001984	0	6	84				
PCDHB7	56129	broad.mit.edu	37	5	140553379	140553379	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140553379C>T	uc003lit.2	+	1	1137	c.963C>T	c.(961-963)GCC>GCT	p.A321A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	321	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCAGGCCAAAGACGGCG	0.428		NaN											0	0	0	0.00308	0	6	78				
PCDHB9	56127	broad.mit.edu	37	5	140567301	140567301	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140567301G>C	uc003liw.1	+	1	409	c.409G>C	c.(409-411)GAG>CAG	p.E137Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	137	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCACAAAGAGATGGTCTT	0.403		NaN											0	0	0	0.001168	0	4	73				
PCDHGB3	56102	broad.mit.edu	37	5	140751513	140751513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140751513C>T	uc003ljw.1	+	1	1552	c.1552C>T	c.(1552-1554)CGA>TGA	p.R518*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.R518*|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	518	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGAGCCTTCGA	0.677		NaN											0	0	0	0.001168	0	5	73				
HTR4	3360	broad.mit.edu	37	5	147928367	147928367	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:147928367C>T	uc003lpn.2	-	4	381	c.217G>A	c.(217-219)GTG>ATG	p.V73M	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.V73M|HTR4_uc003lpj.1_Missense_Mutation_p.V73M|HTR4_uc003lpk.2_Missense_Mutation_p.V73M|HTR4_uc011dby.1_Missense_Mutation_p.V73M|HTR4_uc003lpl.2_Missense_Mutation_p.V73M|HTR4_uc003lpm.2_Missense_Mutation_p.V73M|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.V73M	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	73	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AAGGGCATCACCAGCACCGAA	0.408		NaN											0	0	0	0.001984	0	5	66				
ARSI	340075	broad.mit.edu	37	5	149677553	149677553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:149677553G>A	uc003lrv.2	-	2	1523	c.934C>T	c.(934-936)CGA>TGA	p.R312*		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	312						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCGTCCTCGGAGCGGCCAG	0.592		NaN											0	0	0	0.004482	0	9	78				
DOCK2	1794	broad.mit.edu	37	5	169494582	169494582	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:169494582G>T	uc003maf.2	+	45	4616	c.4536G>T	c.(4534-4536)ATG>ATT	p.M1512I	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.M1004I|DOCK2_uc003mah.2_Missense_Mutation_p.M68I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1512	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGATGATGATAAACCAGT	0.498		NaN											1	0	5.18039e-06	0.00308	5.50003e-06	7	103				
SH3PXD2B	285590	broad.mit.edu	37	5	171765985	171765985	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:171765985G>A	uc003mbr.2	-	13	2295	c.2124C>T	c.(2122-2124)CGC>CGT	p.R708R		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	708					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTCCTGGGCGCGGCCAGGCC	0.627		NaN											0	0	0	0.001984	0	6	40				
UIMC1	51720	broad.mit.edu	37	5	176370462	176370462	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:176370462C>T	uc011dfp.1	-	10	1638	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K	UIMC1_uc003mfc.1_Missense_Mutation_p.E368K|UIMC1_uc003mfd.1_Missense_Mutation_p.E121K|UIMC1_uc003mfg.1_Missense_Mutation_p.E210K|UIMC1_uc003mfe.1_RNA|UIMC1_uc003mff.1_Missense_Mutation_p.E121K	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	491	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCTACTTCCTTCTCAGCA	0.433		NaN											0	0	0	0.004482	0	8	100				
ADAMTS2	9509	broad.mit.edu	37	5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:178541064G>T	uc003mjw.2	-	22	3440	c.3440C>A	c.(3439-3441)TCC>TAC	p.S1147Y	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1147					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557		NaN											1	0	2.62699e-14	0.003163	2.90658e-14	12	135				
MYLK4	340156	broad.mit.edu	37	6	2683270	2683270	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:2683270G>C	uc003mty.3	-	7	969	c.672C>G	c.(670-672)CTC>CTG	p.L224L		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	224	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGTCCAAGTGGAGAATGTACA	0.488		NaN											0	0	0	0.003954	0	21	124				
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:26199108C>G	uc003ngw.2	-	1	364	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488		NaN											0	0	0	0.003163	0	14	83				
HIST1H2AG	8969	broad.mit.edu	37	6	27101102	27101102	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27101102C>A	uc003niw.2	+	1	286	c.252C>A	c.(250-252)CTC>CTA	p.L84L	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	84					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						CGCGTCATCTCCAACTGGCCA	0.627		NaN											1	0	1.10923e-09	0.00278	1.20853e-09	18	144				
HIST1H3H	8357	broad.mit.edu	37	6	27777942	27777942	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27777942C>T	uc003njm.2	+	1	101	c.91C>T	c.(91-93)CCG>TCG	p.P31S	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GAAGAGCGCTCCGGCCACCGG	0.657		NaN											0	0	0	0.001168	0	5	67				
HLA-G	3135	broad.mit.edu	37	6	29797699	29797699	+	Silent	SNP	G	G	A	rs139184078		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:29797699G>A	uc003nnw.2	+	6	1180	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	HLA-G_uc011dmb.1_Silent_p.K306K|HLA-G_uc003raj.3_Silent_p.K339K|HLA-G_uc003nnz.3_Silent_p.K242K|HLA-G_uc010jrn.2_Silent_p.K150K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_RNA	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	334	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						TGTGGAGAAAGAAGAGCTCAG	0.572		NaN											0	0	0	0.00245	0	13	89				
APOM	55937	broad.mit.edu	37	6	31625244	31625244	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31625244T>G	uc003nvl.2	+	4	504	c.431T>G	c.(430-432)TTT>TGT	p.F144C	APOM_uc003nvk.2_Missense_Mutation_p.F72C	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	144					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						TACCAGCGCTTTCTCCTCTAC	0.562		NaN											0	0	0	0.001168	0	5	75				
HSPA1A	3303	broad.mit.edu	37	6	31785445	31785445	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31785445G>A	uc003nxj.2	+	1	2155	c.1912G>A	c.(1912-1914)GAG>AAG	p.E638K	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.E473K|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	638					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						CCCCACCATTGAGGAGGTAGA	0.547		NaN											0	0	0	0.00308	0	6	83				
CUL7	9820	broad.mit.edu	37	6	43012542	43012542	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:43012542C>G	uc003otq.2	-	16	3423	c.3120G>C	c.(3118-3120)AAG>AAC	p.K1040N	CUL7_uc010jyg.2_Missense_Mutation_p.K319N|CUL7_uc011dvb.1_Missense_Mutation_p.K1124N|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1040					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGCAGGTCTTGCCCAGAG	0.597		NaN											0	0	0	0.00308	0	7	97				
MED23	9439	broad.mit.edu	37	6	131923477	131923477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:131923477G>T	uc003qcs.1	-	17	2150	c.1976C>A	c.(1975-1977)TCA>TAA	p.S659*	MED23_uc003qcq.2_Nonsense_Mutation_p.S665*|MED23_uc011eca.1_Nonsense_Mutation_p.S300*|MED23_uc003qct.1_Nonsense_Mutation_p.S665*|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	659					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTGTACCTCTGAGCTACCTAA	0.403		NaN											1	0	5.18039e-06	0.00308	5.50003e-06	6	70				
VIP	7432	broad.mit.edu	37	6	153073417	153073417	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:153073417C>T	uc003qpe.2	+	2	277	c.105C>T	c.(103-105)CTC>CTT	p.L35L	VIP_uc003qpf.2_Silent_p.L35L|VIP_uc010kjd.2_Silent_p.L35L	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	35					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCTGCTCTCAGGTAAGTTC	0.423		NaN											0	0	0	0.001168	0	6	41				
SLC22A2	6582	broad.mit.edu	37	6	160663435	160663435	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:160663435C>G	uc003qtf.2	-	8	1450	c.1280_splice	c.e8-1	p.D427_splice	SLC22A2_uc003qte.1_Splice_Site_p.D427_splice	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2						body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATTGTAGATCTAAGAGGGAA	0.448		NaN											0	0	0	0.004482	0	8	65				
RNASET2	8635	broad.mit.edu	37	6	167352457	167352457	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:167352457C>T	uc003qve.2	-	6	779	c.372G>A	c.(370-372)CAG>CAA	p.Q124Q	RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Silent_p.Q32Q|RNASET2_uc003qvg.2_Silent_p.Q61Q|RNASET2_uc003qvi.1_Missense_Mutation_p.R12K	NM_003730	NP_003721	O00584	RNT2_HUMAN	ribonuclease T2 precursor	124					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GCGCATCCACCTGGGCGGCGC	0.498		NaN											0	0	0	0.001368	0	9	110				
EIF2AK1	27102	broad.mit.edu	37	7	6080762	6080762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6080762C>T	uc003spp.2	-	9	1026	c.880G>A	c.(880-882)GAA>AAA	p.E294K	EIF2AK1_uc003spq.2_Missense_Mutation_p.E293K|EIF2AK1_uc011jwm.1_Missense_Mutation_p.E170K|EIF2AK1_uc003spr.1_Missense_Mutation_p.E86K	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	294	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGTCAGATTCTCCAAAGCGT	0.408		NaN											0	0	0	0.003163	0	15	125				
RAC1	5879	broad.mit.edu	37	7	6431604	6431604	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6431604C>G	uc003spx.2	+	3	398	c.157C>G	c.(157-159)CTG>GTG	p.L53V	RAC1_uc003spw.2_Missense_Mutation_p.L53V	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	53					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACCGGTGAATCTGGGCTTATG	0.413		NaN											0	0	0	0.006214	0	9	129				
MEOX2	4223	broad.mit.edu	37	7	15652020	15652020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:15652020G>A	uc003stc.2	-	3	1188	c.907C>T	c.(907-909)CAC>TAC	p.H303Y	MEOX2_uc011jxw.1_Missense_Mutation_p.H303Y	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	303					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATCATAAGTGCGCATGCTCT	0.478		NaN											0	0	0	0.004482	0	8	64				
AHR	196	broad.mit.edu	37	7	17382605	17382605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:17382605C>T	uc011jxz.1	+	11	3077	c.2464C>T	c.(2464-2466)CAG>TAG	p.Q822*	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAATAACACTCAGACTACCAC	0.368		NaN											0	0	0	0.00278	0	20	135				
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:31862716C>T	uc003tcm.1	-	14	2022	c.1553G>A	c.(1552-1554)CGG>CAG	p.R518Q	PDE1C_uc003tcn.1_Missense_Mutation_p.R518Q|PDE1C_uc003tco.1_Missense_Mutation_p.R578Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R518Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R518Q	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	518	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCATCTCTCCCGATTGATGTG	0.473		NaN											0	0	0	0.000978	0	11	185				
MYO1G	64005	broad.mit.edu	37	7	45016619	45016619	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:45016619C>T	uc003tmh.2	-	2	291	c.147G>A	c.(145-147)GTG>GTA	p.V49V	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	49	Myosin head-like.		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes).			myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						GGTAGGGGTTCACGGACACCA	0.627		NaN											0	0	0	0.004007	0	13	94				
WBSCR17	64409	broad.mit.edu	37	7	71036334	71036334	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:71036334C>G	uc003tvy.2	+	6	1027	c.1027C>G	c.(1027-1029)CTG>GTG	p.L343V	WBSCR17_uc003tvz.2_Missense_Mutation_p.L42V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	343	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATTGGTCTTCTGGATCCTGG	0.498		NaN											0	0	0	0.008291	0	9	154				
CALCR	799	broad.mit.edu	37	7	93108727	93108727	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:93108727C>T	uc003umv.1	-	4	459	c.198G>A	c.(196-198)ATG>ATA	p.M66I	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.M48I|CALCR_uc003umw.2_Missense_Mutation_p.M48I	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	48	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTGCATCCATCATCTTCTTTC	0.413		NaN											0	0	0	0.002299	0	16	209				
STAG3	10734	broad.mit.edu	37	7	99796487	99796487	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:99796487G>A	uc003utx.1	+	14	1529	c.1374G>A	c.(1372-1374)GAG>GAA	p.E458E	STAG3_uc010lgs.1_Silent_p.E246E|STAG3_uc011kjk.1_Silent_p.E400E|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	458					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAGTGCGAGATAAGAATGA	0.547		NaN											0	0	0	0.000978	0	9	125				
CTTNBP2	83992	broad.mit.edu	37	7	117431578	117431578	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:117431578G>A	uc003vjf.2	-	4	1764	c.1672C>T	c.(1672-1674)CCA>TCA	p.P558S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	558	Pro-rich.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTGTGGTGGAGAAGGAGTT	0.502		NaN											0	0	0	0.008291	0	9	140				
CADPS2	93664	broad.mit.edu	37	7	122130198	122130198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:122130198G>A	uc010lkp.2	-	11	1952	c.1789C>T	c.(1789-1791)CCT>TCT	p.P597S	CADPS2_uc003vkg.3_Missense_Mutation_p.P297S|CADPS2_uc010lkq.2_Missense_Mutation_p.P597S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	597					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TGAATTGCAGGAACTGGTTTA	0.368		NaN											0	0	0	0.001168	0	5	83				
POT1	25913	broad.mit.edu	37	7	124503433	124503433	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:124503433C>T	uc003vlm.2	-	8	1118	c.517G>A	c.(517-519)GAA>AAA	p.E173K	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.E42K|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	173					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						CCGTCCACTTCTGCTTTGCCC	0.388		NaN											0	0	0	0.006122	0	14	96				
SMO	6608	broad.mit.edu	37	7	128845541	128845541	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:128845541G>T	uc003vor.2	+	4	1118	c.838G>T	c.(838-840)GGC>TGC	p.G280C	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	280	Helical; Name=2; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GGGCAGCATTGGCTGGCTGGC	0.582		NaN	Mis		skin basal cell 								1	0	4.26978e-12	0.00333	4.70335e-12	19	79				
LUC7L2	51631	broad.mit.edu	37	7	139026236	139026236	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:139026236C>G	uc011kqt.1	+	1	340	c.106C>G	c.(106-108)CGG>GGG	p.R36G	LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.R36G	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	Error:Variant_position_missing_in_Q9Y383_after_alignment							enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CGCGGCCTATCGGTACCTTGT	0.657		NaN									OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	76				
SLC37A3	84255	broad.mit.edu	37	7	140051177	140051177	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051177C>T	uc003vvo.2	-	9	944	c.778G>A	c.(778-780)GAA>AAA	p.E260K	SLC37A3_uc003vvp.2_Missense_Mutation_p.E260K|SLC37A3_uc010lnh.2_Missense_Mutation_p.E260K|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	260					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TATTCGTCTTCATTTTCACCA	0.378		NaN											0	0	0	0.00245	0	10	127				
SLC37A3	84255	broad.mit.edu	37	7	140051237	140051237	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051237C>G	uc003vvo.2	-	9	884	c.718G>C	c.(718-720)GAG>CAG	p.E240Q	SLC37A3_uc003vvp.2_Missense_Mutation_p.E240Q|SLC37A3_uc010lnh.2_Missense_Mutation_p.E240Q|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	240					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TCTTCTGCCTCAATACCCGAG	0.229		NaN											0	0	0	0.009096	0	4	82				
BRAF	673	broad.mit.edu	37	7	140494157	140494157	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140494157G>A	uc003vwc.3	-	8	1152	c.1091C>T	c.(1090-1092)TCA>TTA	p.S364L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	364					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGGAGCTGATGAGGATCGGTC	0.408		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				0	0	0	0.004007	0	13	123				
C7orf34	135927	broad.mit.edu	37	7	142636653	142636653	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:142636653G>A	uc003wca.2	+	1	51	c.10G>A	c.(10-12)GAG>AAG	p.E4K		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	Error:Variant_position_missing_in_Q96L11_after_alignment						extracellular region					0	Melanoma(164;0.059)					AATGGGGCAGGAGGTGCACGG	0.627		NaN											0	0	0	0.001984	0	5	36				
FASTK	10922	broad.mit.edu	37	7	150777000	150777000	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:150777000G>A	uc003wix.1	-	2	190	c.92C>T	c.(91-93)TCA>TTA	p.S31L	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.S31L|FASTK_uc003wja.1_5'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	31					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGAGTTGGGTGATGGAGACCC	0.582		NaN											0	0	0	0.001168	0	5	9				
RHEB	6009	broad.mit.edu	37	7	151188091	151188091	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:151188091G>A	uc003wkh.1	-	2	475	c.62C>T	c.(61-63)TCA>TTA	p.S21L		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Ras homolog enriched in brain precursor	21	GTP.				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			large_intestine(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATCGTCAATGAGGATTTCCC	0.323		NaN											0	0	0	0.009096	0	4	69				
LZTS1	11178	broad.mit.edu	37	8	20110556	20110556	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:20110556C>T	uc003wzr.2	-	2	997	c.886G>A	c.(886-888)GAG>AAG	p.E296K	LZTS1_uc010ltg.1_Missense_Mutation_p.E296K	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	296	Potential.				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCCGCTCCTCGTAGGCCAGG	0.677		NaN											0	0	0	0.001984	0	5	47				
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:24776021G>A	uc003xed.3	+	3	2686	c.2653G>A	c.(2653-2655)GAG>AAG	p.E885K	NEFM_uc011lac.1_Missense_Mutation_p.E667K|NEFM_uc010lue.2_Missense_Mutation_p.E509K	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	885	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428		NaN											0	0	0	0.006214	0	7	140				
GNRH1	2796	broad.mit.edu	37	8	25280738	25280738	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:25280738C>T	uc003xem.3	-	2	950	c.109G>A	c.(109-111)GAT>AAT	p.D37N	PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Missense_Mutation_p.D37N	NM_001083111	NP_001076580	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 precursor	37					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TTTTCGGCATCTCTCTTTCCT	0.408		NaN											0	0	0	0.001855	0	11	142				
KIF13B	23303	broad.mit.edu	37	8	28974498	28974498	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:28974498G>A	uc003xhh.3	-	31	3746	c.3687C>T	c.(3685-3687)TCC>TCT	p.S1229S	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1229					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGCACCGCGGAGTCCCAGG	0.577		NaN											0	0	0	0.001168	0	5	101				
CHD7	55636	broad.mit.edu	37	8	61735145	61735145	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61735145G>A	uc003xue.2	+	12	3518	c.3041G>A	c.(3040-3042)GGA>GAA	p.G1014E	CHD7_uc003xuf.2_Missense_Mutation_p.G127E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1014	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATTTGAAAGGAATCCATGGC	0.408		NaN											0	0	0	0.006122	0	15	223		Valid		
CHD7	55636	broad.mit.edu	37	8	61749458	61749458	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61749458G>A	uc003xue.2	+	17	4549	c.4072G>A	c.(4072-4074)GAT>AAT	p.D1358N		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1358	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTGATTCTGATAGGTTTGT	0.483		NaN											0	0	0	0.00361	0	53	198		Valid		
TRIM55	84675	broad.mit.edu	37	8	67040613	67040613	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:67040613T>C	uc003xvv.2	+	2	469	c.243T>C	c.(241-243)TGT>TGC	p.C81C	TRIM55_uc003xvu.2_Silent_p.C81C|TRIM55_uc003xvw.2_Silent_p.C81C|TRIM55_uc003xvx.2_Silent_p.C81C	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	81						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCCCATCCTGTAGACATGAAG	0.498		NaN											0	0	0	0.00361	0	61	197				
SLCO5A1	81796	broad.mit.edu	37	8	70744345	70744345	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:70744345G>A	uc003xyl.2	-	2	1271	c.564C>T	c.(562-564)TTC>TTT	p.F188F	SLCO5A1_uc010lzb.2_Silent_p.F188F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.F188F|SLCO5A1_uc010lzc.2_Silent_p.F188F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	188	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGGCCGCCGAAGTAGCTGA	0.642		NaN											0	0	0	0.001168	0	4	76				
NBN	4683	broad.mit.edu	37	8	90990452	90990452	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90990452C>T	uc003yej.1	-	5	690	c.580G>A	c.(580-582)GAA>AAA	p.E194K	NBN_uc003yei.1_Missense_Mutation_p.E112K|NBN_uc011lgb.1_Missense_Mutation_p.E194K	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	194					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATACCTTTCAATTTGTGGA	0.323		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.000602	0	5	71				
NBN	4683	broad.mit.edu	37	8	90993657	90993657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90993657C>T	uc003yej.1	-	3	376	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	NBN_uc003yei.1_Missense_Mutation_p.R7Q|NBN_uc011lgb.1_Missense_Mutation_p.R89Q	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	89					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCAAAGTTCGGGAAAAGCC	0.333		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.004482	0	8	173				
SLC26A7	115111	broad.mit.edu	37	8	92374633	92374633	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:92374633G>C	uc003yex.2	+	13	1645	c.1367G>C	c.(1366-1368)GGA>GCA	p.G456A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.G456A|SLC26A7_uc003yfa.2_Missense_Mutation_p.G456A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	456	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCAATGTGGGACTGCTGTTT	0.393		NaN											0	0	0	0.003755	0	27	302				
ESRP1	54845	broad.mit.edu	37	8	95658419	95658419	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:95658419C>A	uc003ygq.3	+	4	582	c.399C>A	c.(397-399)TTC>TTA	p.F133L	ESRP1_uc003ygr.3_Missense_Mutation_p.F133L|ESRP1_uc003ygs.3_Missense_Mutation_p.F133L|ESRP1_uc003ygt.3_Missense_Mutation_p.F133L|ESRP1_uc003ygu.3_Missense_Mutation_p.F133L|ESRP1_uc003ygv.2_5'UTR|ESRP1_uc003ygw.2_5'UTR	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	133					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						CTGAATGCTTCTATTCCTTTT	0.363		NaN											1	0	0.000157383	0.00308	0.000163955	7	119				
MTDH	92140	broad.mit.edu	37	8	98718973	98718973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:98718973C>T	uc003yhz.2	+	8	1595	c.1267C>T	c.(1267-1269)CAA>TAA	p.Q423*	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	423	Lung-homing for mammary tumors (By similarity).|Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCCTGATGATCAAAAGGTGAG	0.323		NaN											0	0	0	0.004482	0	8	209				
LRP12	29967	broad.mit.edu	37	8	105511661	105511661	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:105511661C>T	uc003yma.2	-	4	454	c.359G>A	c.(358-360)AGA>AAA	p.R120K	LRP12_uc003ymb.2_Missense_Mutation_p.R101K	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	120	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCACAAGCTCTGTAACTTTC	0.373		NaN											0	0	0	0.001984	0	7	102				
PKHD1L1	93035	broad.mit.edu	37	8	110487424	110487424	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110487424C>T	uc003yne.2	+	51	8787	c.8683C>T	c.(8683-8685)CAC>TAC	p.H2895Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2895	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGCAAATCACATTAACTG	0.338		NaN								HNSCC(38;0.096)			0	0	0	0.004656	0	23	35				
PKHD1L1	93035	broad.mit.edu	37	8	110495274	110495274	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110495274C>G	uc003yne.2	+	57	9620	c.9516C>G	c.(9514-9516)CTC>CTG	p.L3172L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3172	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACTAAGCTCTCAGAAACTG	0.388		NaN								HNSCC(38;0.096)			0	0	0	0.001984	0	5	38				
CSMD3	114788	broad.mit.edu	37	8	114326926	114326926	+	Missense_Mutation	SNP	G	G	T	rs111400281		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:114326926G>T	uc003ynu.2	-	2	434	c.275C>A	c.(274-276)ACA>AAA	p.T92K	CSMD3_uc003ynt.2_Missense_Mutation_p.T52K|CSMD3_uc011lhx.1_Missense_Mutation_p.T92K|CSMD3_uc010mcx.1_Missense_Mutation_p.T92K|CSMD3_uc003ynx.3_Missense_Mutation_p.T92K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	92	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATTACCCATGTGCAGTTTGC	0.343		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	0	4.68919e-08	0.008291	5.06473e-08	11	150				
EIF2C2	27161	broad.mit.edu	37	8	141549523	141549523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:141549523C>A	uc003yvn.2	-	16	2105	c.2065G>T	c.(2065-2067)GAG>TAG	p.E689*	EIF2C2_uc010men.2_Nonsense_Mutation_p.E612*|EIF2C2_uc010meo.2_Nonsense_Mutation_p.E689*	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	689	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ATACAGGCCTCACGGATGGCC	0.567		NaN											1	0	2.17888e-05	0.006214	2.30841e-05	6	111				
C9orf46	55848	broad.mit.edu	37	9	5358254	5358254	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:5358254G>C	uc003zjc.2	-	6	633	c.429C>G	c.(427-429)TTC>TTG	p.F143L	C9orf46_uc003zjd.2_Missense_Mutation_p.F143L	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	hypothetical protein LOC55848	143						integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)		TGTCTATGAAGAATCTACTCT	0.338		NaN											0	0	0	0.004482	0	6	112				
CNTLN	54875	broad.mit.edu	37	9	17457539	17457539	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:17457539G>A	uc003zmz.2	+	19	3155	c.3129G>A	c.(3127-3129)TTG>TTA	p.L1043L	CNTLN_uc003zmy.2_Silent_p.L1044L|CNTLN_uc010mio.2_Silent_p.L723L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1044	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTTGGATTTGGCTGGGCTTC	0.254		NaN											0	0	0	0.000602	0	4	62				
ADAMTSL1	92949	broad.mit.edu	37	9	18776929	18776929	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:18776929C>T	uc003zne.3	+	19	2829	c.2702C>T	c.(2701-2703)GCG>GTG	p.A901V		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	901	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTGCCCGGCGCGCAGGGTC	0.652		NaN											0	0	0	0.009096	0	4	39				
DDX58	23586	broad.mit.edu	37	9	32500809	32500809	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:32500809G>A	uc003zra.2	-	2	393	c.235C>T	c.(235-237)CAT>TAT	p.H79Y	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	79	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAACCTGCATGGTCTAGGGCA	0.418		NaN											0	0	0	0.001984	0	6	114				
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:86004545G>A	uc004ams.1	-	2	428	c.226C>T	c.(226-228)CGC>TGC	p.R76C	FRMD3_uc004amr.1_Missense_Mutation_p.R62C	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TCCACATAGCGAATGCCAAAG	0.498		NaN											0	0	0	0.00308	0	5	95				
NTRK2	4915	broad.mit.edu	37	9	87338522	87338522	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:87338522C>T	uc004aoa.1	+	9	1556	c.618C>T	c.(616-618)CTC>CTT	p.L206L	NTRK2_uc004anv.1_Silent_p.L206L|NTRK2_uc004any.1_Silent_p.L206L|NTRK2_uc004anz.1_Silent_p.L206L|NTRK2_uc011lsz.1_Silent_p.L206L|NTRK2_uc011lta.1_Silent_p.L206L|NTRK2_uc004aob.1_Silent_p.L206L|NTRK2_uc011ltb.1_Silent_p.L50L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	206	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						CACCTAACCTCACTGTGGAGG	0.408		NaN								TSP Lung(25;0.17)			0	0	0	0.004482	0	7	73				
TMEFF1	8577	broad.mit.edu	37	9	103312381	103312381	+	Silent	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:103312381A>T	uc004baz.1	+	7	824	c.714A>T	c.(712-714)ACA>ACT	p.T238T	TMEFF1_uc004bay.1_Silent_p.T312T	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	238	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				TTACAGATACAGATGACACTA	0.343		NaN											0	0	0	0.001168	0	6	75				
SMC2	10592	broad.mit.edu	37	9	106894344	106894344	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:106894344C>T	uc004bbv.2	+	22	3334	c.3046C>T	c.(3046-3048)CTT>TTT	p.L1016F	SMC2_uc004bbw.2_Missense_Mutation_p.L1016F|SMC2_uc011lvl.1_Missense_Mutation_p.L1016F|SMC2_uc004bbx.2_Missense_Mutation_p.L1016F|SMC2_uc004bby.2_RNA	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1016	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						ATCCAAAATTCTTACAACTAT	0.308		NaN											0	0	0	0.009096	0	4	34				
GAPVD1	26130	broad.mit.edu	37	9	128088742	128088742	+	Missense_Mutation	SNP	C	C	T	rs144122272	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:128088742C>T	uc010mwx.2	+	12	2232	c.1906C>T	c.(1906-1908)CGT>TGT	p.R636C	GAPVD1_uc011lzs.1_Missense_Mutation_p.R636C|GAPVD1_uc004bpp.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpq.2_Missense_Mutation_p.R636C|GAPVD1_uc004bpr.2_Missense_Mutation_p.R615C|GAPVD1_uc004bps.2_Missense_Mutation_p.R636C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R495C	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	636					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GTTTGAAATTCGTGACATGAT	0.368		NaN											0	0	0	0.001168	0	5	89				
DOLPP1	57171	broad.mit.edu	37	9	131843433	131843433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:131843433C>G	uc004bxc.2	+	1	51	c.23C>G	c.(22-24)TCG>TGG	p.S8W	DOLPP1_uc004bxd.2_Missense_Mutation_p.S8W|DOLPP1_uc004bxe.2_RNA	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	8					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						GGACAGTGCTCGCTCCCCGCT	0.672		NaN											0	0	0	0.00499	0	11	91				
ABL1	25	broad.mit.edu	37	9	133759972	133759972	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:133759972G>A	uc004bzw.2	+	11	2298	c.2295G>A	c.(2293-2295)AAG>AAA	p.K765K	ABL1_uc004bzv.2_Silent_p.K784K	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	765	Nuclear localization signal 3 (Potential).				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGCCTCGGAAGAGGGCAGGGG	0.582		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.00308	0	5	60				
BAT2L1	84726	broad.mit.edu	37	9	134351676	134351676	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:134351676G>A	uc004can.3	+	15	4215	c.4160G>A	c.(4159-4161)CGG>CAG	p.R1387Q	BAT2L1_uc010mzj.1_Missense_Mutation_p.R970Q|BAT2L1_uc004cao.3_Missense_Mutation_p.R745Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1387							protein binding				0						AGCGAGCGGCGGGAGCGGCGG	0.667		NaN									OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	2	2				
FRMPD4	9758	broad.mit.edu	37	X	12724949	12724949	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:12724949C>G	uc004cuz.1	+	12	1708	c.1202C>G	c.(1201-1203)TCT>TGT	p.S401C	FRMPD4_uc011mij.1_Missense_Mutation_p.S393C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	401	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CCTCAGCTCTCTGCACTACAA	0.428		NaN											0	0	0	0.004007	0	10	138				
ZRSR2	8233	broad.mit.edu	37	X	15818001	15818001	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:15818001C>G	uc004cxg.3	+	3	173	c.128C>G	c.(127-129)TCA>TGA	p.S43*		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	43					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					CTAGGACTCTCACAGAAGGAG	0.328		NaN											0	0	0	0.000602	0	5	66				
CTPS2	56474	broad.mit.edu	37	X	16707722	16707722	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:16707722G>A	uc004cxk.2	-	8	1467	c.723C>T	c.(721-723)GTC>GTT	p.V241V	CTPS2_uc004cxl.2_Silent_p.V241V|CTPS2_uc004cxm.2_Silent_p.V241V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	241					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					GGATACATATGACCTAAGTGG	0.388		NaN											0	0	0	0.004482	0	8	123				
PPEF1	5475	broad.mit.edu	37	X	18822166	18822166	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:18822166G>A	uc004cyq.2	+	14	1703	c.1222G>A	c.(1222-1224)GAA>AAA	p.E408K	PPEF1_uc004cyp.2_Missense_Mutation_p.E380K|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.E408K|PPEF1_uc011mja.1_Missense_Mutation_p.E343K|PPEF1_uc011mjb.1_Missense_Mutation_p.E352K	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	408	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					ATGTAAGCCCGAAGGGTATGA	0.433		NaN											0	0	0	0.000978	0	8	99				
SH3KBP1	30011	broad.mit.edu	37	X	19764521	19764521	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:19764521G>A	uc004czm.2	-	3	517	c.201C>T	c.(199-201)AAC>AAT	p.N67N	SH3KBP1_uc004czl.2_Silent_p.N30N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	67					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CTGGAGCTTTGTTGGTGAGAG	0.398		NaN											0	0	0	0.008871	0	16	139				
DMD	1756	broad.mit.edu	37	X	32328262	32328262	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:32328262G>C	uc004dda.1	-	42	6298	c.6054C>G	c.(6052-6054)CTC>CTG	p.L2018L	DMD_uc004dcw.2_Silent_p.L674L|DMD_uc004dcx.2_Silent_p.L677L|DMD_uc004dcz.2_Silent_p.L1895L|DMD_uc004dcy.1_Silent_p.L2014L|DMD_uc004ddb.1_Silent_p.L2010L|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2018	Spectrin 14.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGAGCATTGAGAAGTTGTT	0.393		NaN											0	0	0	0.001984	0	5	83				
SSX3	10214	broad.mit.edu	37	X	48214125	48214125	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48214125G>C	uc004djd.1	-	3	220	c.126C>G	c.(124-126)GTC>GTG	p.V42V	SSX3_uc004dje.2_Silent_p.V42V|SSX3_uc010nic.2_Silent_p.V42V	NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						TTTTCTCCGAGACTTTCATCT	0.398		NaN											0	0	0	0.006214	0	9	127				
GRIPAP1	56850	broad.mit.edu	37	X	48855860	48855860	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48855860C>G	uc004dly.1	-	2	134	c.99G>C	c.(97-99)AAG>AAC	p.K33N	GRIPAP1_uc004dma.2_Missense_Mutation_p.K33N	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	33	Potential.					early endosome				breast(2)|kidney(1)	3						CAACACCATTCTTGCGTAGTT	0.552		NaN											0	0	0	0.001984	0	4	67				
ITIH5L	347365	broad.mit.edu	37	X	54784222	54784222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:54784222G>A	uc004dtj.2	-	8	2315	c.2285C>T	c.(2284-2286)CCT>CTT	p.P762L		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	762	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						AGGTTTCACAGGTGGGACTTG	0.532		NaN											0	0	0	0.00308	0	7	97				
VSIG4	11326	broad.mit.edu	37	X	65253645	65253645	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:65253645C>G	uc004dwh.2	-	2	210	c.83G>C	c.(82-84)AGT>ACT	p.S28T	VSIG4_uc004dwi.2_Missense_Mutation_p.S28T|VSIG4_uc010nkq.1_Missense_Mutation_p.S28T|VSIG4_uc004dwj.2_Missense_Mutation_p.S28T|VSIG4_uc011moy.1_Missense_Mutation_p.S28T|VSIG4_uc004dwk.2_Missense_Mutation_p.S28T|VSIG4_uc004dwl.2_5'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	28	Ig-like 1.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						TCCTGTTACACTCTCTGGCAC	0.532		NaN											0	0	0	0.006214	0	7	96				
MAGEE2	139599	broad.mit.edu	37	X	75004685	75004685	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:75004685G>T	uc004ecj.1	-	1	387	c.202C>A	c.(202-204)CTG>ATG	p.L68M		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	68										ovary(1)|skin(1)	2						AGGACCTCCAGGTCATTCGGG	0.567		NaN											1	0	0.00024832	0.009096	0.000257078	4	71				
LPAR4	2846	broad.mit.edu	37	X	78010591	78010591	+	Silent	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010591T>A	uc010nme.2	+	2	630	c.225T>A	c.(223-225)GCT>GCA	p.A75A		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	75	Helical; Name=2; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						GTGAGACTGCTATTTTTATCA	0.393		NaN											0	0	0	0.008291	0	10	209				
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010794C>G	uc010nme.2	+	2	833	c.428C>G	c.(427-429)CCT>CGT	p.P143R		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	143	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						ATTGTCTATCCTTTTCGATCT	0.463		NaN											0	0	0	0.001168	0	5	122				
XKRX	402415	broad.mit.edu	37	X	100169786	100169786	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100169786A>T	uc004egn.2	-	3	1496	c.891T>A	c.(889-891)AAT>AAA	p.N297K	XKRX_uc011mre.1_Missense_Mutation_p.N93K	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	297						integral to membrane|plasma membrane				breast(1)	1						TCTCAATGTTATTGGGCATCT	0.493		NaN											0	0	0	0.008291	0	9	162				
BTK	695	broad.mit.edu	37	X	100617172	100617172	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100617172C>T	uc004ehg.2	-	7	770	c.577G>A	c.(577-579)GAG>AAG	p.E193K	BTK_uc010nnn.2_Missense_Mutation_p.E193K|BTK_uc010nno.2_Missense_Mutation_p.E227K|BTK_uc004ehi.2_Missense_Mutation_p.E193K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	193					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TGGTCCTCCTCAGGCGTTGGG	0.468		NaN							Agammaglobulinemia_X-linked				0	0	0	0.004482	0	7	116				
RNF128	79589	broad.mit.edu	37	X	105970542	105970542	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:105970542T>C	uc004eml.2	+	1	649	c.399T>C	c.(397-399)CAT>CAC	p.H133H	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	133	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACAAGATCCATCTGGCTTATG	0.597		NaN											0	0	0	0.00308	0	6	78				
ALG13	79868	broad.mit.edu	37	X	110970869	110970869	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:110970869G>A	uc011msy.1	+	18	2152	c.2118G>A	c.(2116-2118)ATG>ATA	p.M706I	ALG13_uc011msx.1_Missense_Mutation_p.M602I|ALG13_uc011msz.1_Missense_Mutation_p.M628I|ALG13_uc011mta.1_Missense_Mutation_p.M602I|ALG13_uc011mtb.1_Missense_Mutation_p.M602I			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	706					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						ACCGCCAGATGAGTTGTGTGA	0.358		NaN											0	0	0	0.009096	0	3	25				
KIAA1210	57481	broad.mit.edu	37	X	118284333	118284333	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118284333T>C	uc004era.3	-	1	210	c.210A>G	c.(208-210)GCA>GCG	p.A70A		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	70										ovary(4)|skin(1)	5						GGTCAGTCACTGCAGCTGGGC	0.547		NaN											0	0	0	0.009096	0	3	20				
UPF3B	65109	broad.mit.edu	37	X	118977197	118977197	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118977197C>G	uc004erz.1	-	5	614	c.537G>C	c.(535-537)GAG>GAC	p.E179D	UPF3B_uc004esa.1_Missense_Mutation_p.E179D	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	179	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						CTAGCAGTGTCTCTGGAGTAG	0.328		NaN											0	0	0	0.008291	0	7	154				
CUL4B	8450	broad.mit.edu	37	X	119670883	119670883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:119670883G>A	uc004esw.2	-	17	2436	c.1999C>T	c.(1999-2001)CAG>TAG	p.Q667*	CUL4B_uc010nqq.2_Nonsense_Mutation_p.Q368*|CUL4B_uc004esv.2_Nonsense_Mutation_p.Q649*	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	667					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTCTGATTCTGCATATACTAT	0.348		NaN											0	0	0	0.001855	0	11	105				
DCAF12L2	340578	broad.mit.edu	37	X	125299261	125299261	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:125299261G>T	uc004euk.1	-	1	674	c.647C>A	c.(646-648)ACC>AAC	p.T216N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	216	WD 2.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CAGAGCCACGGTGCCGTCGCG	0.637		NaN											1	0	7.07596e-05	0.006122	7.41786e-05	15	76				
ATP2B3	492	broad.mit.edu	37	X	152821836	152821836	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:152821836G>A	uc004fht.1	+	13	2412	c.2286G>A	c.(2284-2286)CTG>CTA	p.L762L	ATP2B3_uc004fhs.1_Silent_p.L762L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	762	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTGCTGGCCCGGTCGT	0.652		NaN											0	0	0	0.004672	0	3	24				
HCFC1	3054	broad.mit.edu	37	X	153224215	153224215	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153224215C>A	uc004fjp.2	-	10	2136	c.1608G>T	c.(1606-1608)GTG>GTT	p.V536V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	536					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCAATCACCTGCAGCA	0.677		NaN											1	0	0.00909568	0.009096	0.00928169	3	23				
FLNA	2316	broad.mit.edu	37	X	153596245	153596245	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153596245C>T	uc004fkk.2	-	3	836	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	FLNA_uc010nuu.1_Missense_Mutation_p.R196Q	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	196	CH 2.|Actin-binding.		R -> W (in OPD1).|R -> G (in OPD2).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGCCCGGCCGCTCTG	0.692		NaN											0	0	0	0.006214	0	7	54				
CHD5	26038	broad.mit.edu	37	1	6188917	6188917	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:6188917G>C	uc001amb.1	-	23	3700	c.3600C>G	c.(3598-3600)CTC>CTG	p.L1200L	CHD5_uc001alz.1_Silent_p.L57L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1200					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCCTTGAAGAGTTCCTCCG	0.667		NaN											0	0	0	0.248553	0	6	69				
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:11105485C>T	uc001aru.2	-	4	545	c.524G>A	c.(523-525)CGT>CAT	p.R175H	MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCGCTTGTTACGGTGCAGGAC	0.687		NaN											0	0	0	0.788014	0	29	47				
UBR4	23352	broad.mit.edu	37	1	19491418	19491418	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:19491418C>T	uc001bbi.2	-	32	4390	c.4386G>A	c.(4384-4386)GTG>GTA	p.V1462V	UBR4_uc001bbm.1_Silent_p.V673V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1462					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGCAGGCGCACAGGTTCCA	0.577		NaN											0	0	0	0.435327	0	11	59				
MACF1	23499	broad.mit.edu	37	1	39801075	39801075	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:39801075C>G	uc010oiu.1	+	1	4266	c.4135C>G	c.(4135-4137)CAA>GAA	p.Q1379E	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2944					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAAATCAAGGGGAAGT	0.378		NaN											0	0	0	0.361761	0	8	81				
KCNQ4	9132	broad.mit.edu	37	1	41285143	41285143	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:41285143C>T	uc001cgh.1	+	5	915	c.833C>T	c.(832-834)ACG>ATG	p.T278M	KCNQ4_uc001cgi.1_Missense_Mutation_p.T278M	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	278					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGGTGGGGGACGGTGCGTGAG	0.627		NaN											0	0	0	0.361761	0	9	149				
ZFYVE9	9372	broad.mit.edu	37	1	52740153	52740153	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:52740153C>G	uc001cto.2	+	8	2815	c.2643C>G	c.(2641-2643)TTC>TTG	p.F881L	ZFYVE9_uc001ctp.2_Missense_Mutation_p.F822L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	881					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TTTGTCTATTCTCTGGGAGTA	0.398		NaN											0	0	0	0.307466	0	6	190				
INADL	10207	broad.mit.edu	37	1	62614061	62614061	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:62614061G>C	uc001dab.2	+	42	5491	c.5377G>C	c.(5377-5379)GAG>CAG	p.E1793Q	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.E577Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1793					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						AGAAGACACAGAGTGAGTATT	0.478		NaN											0	0	0	0.819951	0	35	95				
TNNI3K	51086	broad.mit.edu	37	1	74954930	74954930	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:74954930G>A	uc001dgf.1	+	22	2230	c.2179G>A	c.(2179-2181)GAG>AAG	p.E727K	TNNI3K_uc001dge.1_Missense_Mutation_p.E828K	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	727						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGCAACATTGAGGTAAAAGC	0.373		NaN											0	0	0	0.217242	0	6	63				
ZNHIT6	54680	broad.mit.edu	37	1	86173471	86173471	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:86173471T>C	uc001dlh.2	-	1	631	c.497A>G	c.(496-498)AAG>AGG	p.K166R	ZNHIT6_uc010osc.1_Missense_Mutation_p.K127R	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	166	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						ACCAACAAACTTCTCCTCCTG	0.408		NaN											0	0	0	0.819951	0	29	237				
C1orf183	55924	broad.mit.edu	37	1	112269624	112269624	+	Missense_Mutation	SNP	G	G	A	rs112881255		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:112269624G>A	uc001ebo.1	-	2	1018	c.860C>T	c.(859-861)TCA>TTA	p.S287L	C1orf183_uc001ebp.1_Missense_Mutation_p.S272L	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	287										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		ATCAAATCCTGAGGGTGAGTG	0.597		NaN											0	0	0	0.859065	0	34	310				
AMPD1	270	broad.mit.edu	37	1	115220970	115220970	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:115220970G>C	uc001efe.1	-	8	1160	c.1076C>G	c.(1075-1077)TCT>TGT	p.S359C	AMPD1_uc001eff.1_Missense_Mutation_p.S355C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	359					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACATCCAGAGAATCAACAGT	0.428		NaN											0	0	0	0.639603	0	19	150				
LYSMD1	388695	broad.mit.edu	37	1	151134376	151134376	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:151134376C>G	uc001ewy.2	-	2	1017	c.381G>C	c.(379-381)GAG>GAC	p.E127D	LYSMD1_uc010pcr.1_Missense_Mutation_p.E79D	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	127					cell wall macromolecule catabolic process						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTCCTGTCTCTTGTTTCT	0.507		NaN											0	0	0	0.335167	0	10	70				
FLG	2312	broad.mit.edu	37	1	152282758	152282758	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:152282758G>C	uc001ezu.1	-	3	4640	c.4604C>G	c.(4603-4605)TCA>TGA	p.S1535*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGTCCTGACTGCCCATG	0.567		NaN							Ichthyosis				0	0	0	0.870114	0	47	377				
SEMA4A	64218	broad.mit.edu	37	1	156131202	156131202	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:156131202C>G	uc001fnl.2	+	9	980	c.876C>G	c.(874-876)CTC>CTG	p.L292L	SEMA4A_uc009wrq.2_Silent_p.L292L|SEMA4A_uc001fnm.2_Silent_p.L292L|SEMA4A_uc001fnn.2_Silent_p.L160L|SEMA4A_uc001fno.2_Silent_p.L292L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	292	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCAGCTGCTCTGCACCCAGC	0.667		NaN											0	0	0	0.520397	0	16	102				
PAPPA2	60676	broad.mit.edu	37	1	176564215	176564215	+	Missense_Mutation	SNP	C	C	T	rs116090626	by1000genomes	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:176564215C>T	uc001gkz.2	+	3	2639	c.1475C>T	c.(1474-1476)TCG>TTG	p.S492L	PAPPA2_uc001gky.1_Missense_Mutation_p.S492L|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	492	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GAGATTCTGTCGCCTTTGCAG	0.522		NaN											0	0	0	0.608945	0	21	35				
TLR5	7100	broad.mit.edu	37	1	223284277	223284277	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:223284277G>T	uc001hnv.1	-	4	2543	c.2097C>A	c.(2095-2097)TTC>TTA	p.F699L	TLR5_uc001hnw.1_Missense_Mutation_p.F699L	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	699	Cytoplasmic (Potential).|TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		CTTTGCTGCTGAAGCACAAAT	0.438		NaN											1	0	0.000602214	0.184627	0.000619927	4	90				
FBXO28	23219	broad.mit.edu	37	1	224318184	224318184	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:224318184G>C	uc001hoh.2	+	2	319	c.278G>C	c.(277-279)AGA>ACA	p.R93T	FBXO28_uc009xef.2_Missense_Mutation_p.R93T|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	93	F-box.									ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTTTGTAAAAGAATGGACTTG	0.373		NaN											0	0	0	0.307466	0	8	74				
RYR2	6262	broad.mit.edu	37	1	237947659	237947659	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:237947659C>T	uc001hyl.1	+	90	12767	c.12647C>T	c.(12646-12648)GCG>GTG	p.A4216V	RYR2_uc010pya.1_Missense_Mutation_p.A631V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGGTCAGCGAATAAGGAA	0.542		NaN											0	0	0	0.729181	0	25	40				
GDF2	2658	broad.mit.edu	37	10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:48414152G>A	uc001jfa.1	-	2	879	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	239					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GATGTCCAGCGTGTCGCAGCC	0.582		NaN											0	0	0	0.639603	0	24	36				
PPP3CB	5532	broad.mit.edu	37	10	75214224	75214224	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:75214224G>C	uc001jue.2	-	10	1267	c.1132C>G	c.(1132-1134)CTG>GTG	p.L378V	PPP3CB_uc001juf.2_Missense_Mutation_p.L378V|PPP3CB_uc001jug.2_Missense_Mutation_p.L378V|PPP3CB_uc001jui.2_Missense_Mutation_p.L396V|PPP3CB_uc001juh.2_Missense_Mutation_p.L292V|PPP3CB_uc010qkj.1_Missense_Mutation_p.L6V	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	378										skin(1)	1	Prostate(51;0.0119)					CAAATACTCAGAACATTTACC	0.303		NaN											0	0	0	0.435327	0	10	110				
KIF20B	9585	broad.mit.edu	37	10	91511157	91511157	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:91511157A>G	uc001kgs.1	+	24	4223	c.4151A>G	c.(4150-4152)CAG>CGG	p.Q1384R	KIF20B_uc001kgr.1_Missense_Mutation_p.Q1344R|KIF20B_uc001kgt.1_Missense_Mutation_p.Q595R|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1384					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						CTAGAAGAACAGGAACAAACT	0.358		NaN											0	0	0	0.769981	0	27	223				
UBTD1	80019	broad.mit.edu	37	10	99327844	99327844	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:99327844G>A	uc001knv.1	+	2	437	c.244G>A	c.(244-246)GAC>AAC	p.D82N		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	82											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAAGCCAACGACCACGAGCT	0.637		NaN											0	0	0	0.870114	0	34	76				
INPP5F	22876	broad.mit.edu	37	10	121551496	121551496	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:121551496C>T	uc001leo.2	+	5	726	c.560C>T	c.(559-561)TCC>TTC	p.S187F	INPP5F_uc001len.3_Missense_Mutation_p.S187F	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	187	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGACCAATTCCGTGCAGAGG	0.507		NaN											0	0	0	0.750413	0	27	179				
UROS	7390	broad.mit.edu	37	10	127483469	127483469	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:127483469C>T	uc001liw.3	-	8	773	c.640G>A	c.(640-642)GAC>AAC	p.D214N	UROS_uc001liv.3_Missense_Mutation_p.D95N|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.D214N|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	214					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TCGATATTGTCACCAGATAAC	0.373		NaN											0	0	0	0.335167	0	8	82				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:534288C>T	uc001lpv.2	-	2	223	c.35G>A	c.(34-36)GGC>GAC	p.G12D	HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			0	0	0	0.870114	0	39	13		Valid		
OSBPL5	114879	broad.mit.edu	37	11	3147784	3147784	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:3147784C>T	uc001lxk.2	-	3	296	c.138G>A	c.(136-138)GGG>GGA	p.G46G	OSBPL5_uc010qxq.1_5'UTR|OSBPL5_uc009ydw.2_Silent_p.G46G|OSBPL5_uc001lxl.2_Silent_p.G46G|OSBPL5_uc009ydx.2_Silent_p.G70G|OSBPL5_uc001lxm.1_RNA	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	46					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATGTCCTTCCCTGCAAGAG	0.667		NaN											0	0	0	0.184627	0	4	26				
DKK3	27122	broad.mit.edu	37	11	12030017	12030017	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12030017A>T	uc001mju.2	-	1	170	c.113T>A	c.(112-114)CTC>CAC	p.L38H	DKK3_uc010rcf.1_Missense_Mutation_p.L38H|DKK3_uc001mjv.2_Missense_Mutation_p.L38H|DKK3_uc001mjw.2_Missense_Mutation_p.L38H|DKK3_uc010rcg.1_Missense_Mutation_p.L38H|DKK3_uc001mjx.2_Missense_Mutation_p.L38H	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	38	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		CGGGTAGCTGAGAGCCGGGCC	0.701		NaN											0	0	0	0.779181	0	30	5				
TEAD1	7003	broad.mit.edu	37	11	12946588	12946588	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12946588G>C	uc001mkj.3	+	11	1623	c.958G>C	c.(958-960)GAA>CAA	p.E320Q	TEAD1_uc001mkk.3_Missense_Mutation_p.E239Q|TEAD1_uc009ygl.2_Missense_Mutation_p.E156Q	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	335	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAAGTAGTAGAAAAAGTAGA	0.433		NaN											0	0	0	0.115264	0	3	59				
KCNC1	3746	broad.mit.edu	37	11	17793941	17793941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:17793941G>A	uc001mnk.3	+	2	1355	c.1300G>A	c.(1300-1302)GTC>ATC	p.V434I	KCNC1_uc009yhc.1_Missense_Mutation_p.V434I	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	434	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GCCCGTGCCCGTCATCGTGAA	0.577		NaN											0	0	0	0.539581	0	15	86				
SPRYD5	84767	broad.mit.edu	37	11	55658785	55658785	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:55658785C>T	uc010rip.1	+	7	1128	c.1036C>T	c.(1036-1038)CAT>TAT	p.H346Y	SPRYD5_uc010riq.1_Missense_Mutation_p.H203Y	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	346	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TTGGGAGGTTCATATGGGGGA	0.428		NaN											0	0	0	0.411799	0	12	96				
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:65403111C>T	uc001oey.2	+	32	5296	c.5296C>T	c.(5296-5298)CGC>TGC	p.R1766C	PCNXL3_uc001oez.2_Missense_Mutation_p.R653C	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1766						integral to membrane					0						GCAGGCGCTTCGCAACATGAT	0.677		NaN											0	0	0	0.307466	0	8	21				
ABCC9	10060	broad.mit.edu	37	12	21958155	21958155	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:21958155C>T	uc001rfi.1	-	38	4623	c.4603G>A	c.(4603-4605)GCC>ACC	p.A1535T	ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.A1499T|ABCC9_uc001rfg.2_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1535	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCTTGTGGGCGAGCAAATTT	0.438		NaN											0	0	0	0.335167	0	8	48				
SOX5	6660	broad.mit.edu	37	12	23699264	23699264	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:23699264C>G	uc001rfw.2	-	12	1685	c.1583G>C	c.(1582-1584)AGT>ACT	p.S528T	SOX5_uc001rfx.2_Missense_Mutation_p.S515T|SOX5_uc001rfy.2_Missense_Mutation_p.S407T|SOX5_uc001rfv.2_Missense_Mutation_p.S142T|SOX5_uc010siv.1_Missense_Mutation_p.S515T|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Missense_Mutation_p.S480T	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	528					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						AGAATCTCCACTCAGATTGAA	0.343		NaN											0	0	0	0.27861	0	7	109				
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517		NaN											0	0	0	0.870114	0	63	106		Valid		
ACSS3	79611	broad.mit.edu	37	12	81568654	81568654	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:81568654G>A	uc001szl.1	+	8	1277	c.1186G>A	c.(1186-1188)GCA>ACA	p.A396T	ACSS3_uc001szm.1_Missense_Mutation_p.A395T|ACSS3_uc001szn.1_Missense_Mutation_p.A78T	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	396						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGCACCAACTGCAATTAGAGC	0.512		NaN											0	0	0	0.435327	0	14	46				
DDX51	317781	broad.mit.edu	37	12	132624237	132624237	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:132624237C>T	uc001ujy.3	-	14	1956	c.1917G>A	c.(1915-1917)CTG>CTA	p.L639L		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	639	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCAGCGGCTGCAGCAGCTTGC	0.612		NaN											0	0	0	0.115264	0	3	30				
SLC7A7	9056	broad.mit.edu	37	14	23244697	23244697	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:23244697T>C	uc001wgr.3	-	7	1189	c.1051A>G	c.(1051-1053)ATC>GTC	p.I351V	SLC7A7_uc001wgs.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgt.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgu.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgv.3_Missense_Mutation_p.I351V	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	351					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCAACATGGATCATGCAGATG	0.473		NaN											0	0	0	0.608945	0	20	107				
ARHGAP5	394	broad.mit.edu	37	14	32563175	32563175	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:32563175A>G	uc001wrl.2	+	2	3539	c.3300A>G	c.(3298-3300)AAA>AAG	p.K1100K	ARHGAP5_uc001wrm.2_Silent_p.K1100K|ARHGAP5_uc001wrn.2_Silent_p.K1100K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1100					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAATTTTCAAACAGAAGGGCT	0.383		NaN											0	0	0	0.788014	0	30	57				
ARF6	382	broad.mit.edu	37	14	50360895	50360895	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:50360895G>A	uc001wxg.3	+	2	1062	c.441G>A	c.(439-441)AGG>AGA	p.R147R		NM_001663	NP_001654	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	147					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding				0	all_epithelial(31;0.000822)|Breast(41;0.0117)					TTCGGGACAGGAACTGGTATG	0.542		NaN											0	0	0	0.307466	0	6	44				
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:63175164G>A	uc001xfx.2	-	11	2080	c.2029C>T	c.(2029-2031)CGT>TGT	p.R677C	KCNH5_uc001xfy.2_Missense_Mutation_p.S611L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	677	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458		NaN											0	0	0	0.115264	0	3	62				
MAP3K9	4293	broad.mit.edu	37	14	71199958	71199958	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:71199958C>T	uc001xmm.2	-	11	2128	c.2128G>A	c.(2128-2130)GAT>AAT	p.D710N	MAP3K9_uc010ttk.1_Missense_Mutation_p.D438N|MAP3K9_uc001xmk.2_Missense_Mutation_p.D443N|MAP3K9_uc001xml.2_Missense_Mutation_p.D724N	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	710					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCATCGCCATCCTCT	0.433		NaN											0	0	0	0.361761	0	6	75				
EIF2B2	8892	broad.mit.edu	37	14	75470268	75470268	+	Missense_Mutation	SNP	G	G	A	rs17849324		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:75470268G>A	uc001xrc.1	+	3	381	c.299G>A	c.(298-300)AGC>AAC	p.S100N		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	100				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CATGGACGCAGCGACGAGAGT	0.527		NaN											0	0	0	0.834066	0	30	73				
SPTLC2	9517	broad.mit.edu	37	14	78023407	78023407	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023407G>A	uc001xub.2	-	7	1121	c.933C>T	c.(931-933)CTC>CTT	p.L311L		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCACAAGGATGAGAATTTTCT	0.393		NaN											0	0	0	0.27861	0	5	60				
SPTLC2	9517	broad.mit.edu	37	14	78023409	78023409	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023409G>A	uc001xub.2	-	7	1119	c.931C>T	c.(931-933)CTC>TTC	p.L311F		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	311						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAAGGATGAGAATTTTCTTC	0.393		NaN											0	0	0	0.248553	0	4	59				
KIF26A	26153	broad.mit.edu	37	14	104618365	104618365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:104618365C>T	uc001yos.3	+	3	302	c.302C>T	c.(301-303)TCT>TTT	p.S101F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	101					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTGCCTCTCTGCCCTGCTT	0.672		NaN											0	0	0	0.27861	0	6	53				
C15orf55	256646	broad.mit.edu	37	15	34647806	34647806	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34647806G>A	uc001zif.2	+	7	1668	c.1513G>A	c.(1513-1515)GAT>AAT	p.D505N	C15orf55_uc010ucc.1_Missense_Mutation_p.D533N|C15orf55_uc010ucd.1_Missense_Mutation_p.D523N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	505						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGAAGATGGGGATGGGCGGCT	0.582		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.335167	0	8	69				
C15orf55	256646	broad.mit.edu	37	15	34648553	34648553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34648553G>T	uc001zif.2	+	7	2415	c.2260G>T	c.(2260-2262)GAG>TAG	p.E754*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.E782*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.E772*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	754						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GTGTGTAACTGAGTATCAGGA	0.532		NaN	T	BRD3|BRD4	lethal midline carcinoma								1	0	0.00307968	0.27861	0.00314712	7	79				
VPS13C	54832	broad.mit.edu	37	15	62228840	62228840	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:62228840C>G	uc002agz.2	-	48	5785	c.5711G>C	c.(5710-5712)AGA>ACA	p.R1904T	VPS13C_uc002aha.2_Missense_Mutation_p.R1861T|VPS13C_uc002ahb.1_Missense_Mutation_p.R1904T|VPS13C_uc002ahc.1_Missense_Mutation_p.R1861T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1904					protein localization					ovary(2)	2						TTTTCTCACTCTTACAGTCTC	0.348		NaN											0	0	0	0.335167	0	8	48				
C15orf32	145858	broad.mit.edu	37	15	93015655	93015655	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:93015655G>C	uc002brc.1	+	1	749	c.277G>C	c.(277-279)GAT>CAT	p.D93H	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	93										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ctcacgagtggATGGTTTGAT	0.279		NaN											0	0	0	0.479597	0	12	63				
UQCRC2	7385	broad.mit.edu	37	16	21968590	21968590	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:21968590A>C	uc002djx.2	+	2	204	c.68A>C	c.(67-69)AAA>ACA	p.K23T	UQCRC2_uc002djy.2_Missense_Mutation_p.K23T|UQCRC2_uc010bxa.2_RNA	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	23					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		CCCAAAGTTAAAGCCACAGCT	0.448		NaN											0	0	0	0.779181	0	26	33				
CMIP	80790	broad.mit.edu	37	16	81712168	81712168	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:81712168G>A	uc002fgp.2	+	10	1395	c.1323G>A	c.(1321-1323)ATG>ATA	p.M441I	CMIP_uc002fgq.1_Missense_Mutation_p.M347I|CMIP_uc010vnq.1_Missense_Mutation_p.M254I|CMIP_uc002fgr.1_Missense_Mutation_p.M288I	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	407						cytoplasm|nucleus					0						GCAGCACCATGAGCATCGAGC	0.572		NaN											0	0	0	0.479597	0	13	17				
ACAP1	9744	broad.mit.edu	37	17	7240683	7240683	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:7240683G>C	uc002ggd.2	+	2	312	c.106G>C	c.(106-108)GAA>CAA	p.E36Q		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	36	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						GACCCGTCTGGAAAAGGTGAC	0.557		NaN											0	0	0	0.115264	0	3	107				
CRLF3	51379	broad.mit.edu	37	17	29119551	29119551	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:29119551C>T	uc002hfr.3	-	6	975	c.866G>A	c.(865-867)CGA>CAA	p.R289Q	CRLF3_uc010wbr.1_Missense_Mutation_p.R173Q	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	289					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm					0		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TATATTTCTTCGACTGCTCAG	0.418		NaN											0	0	0	0.870114	0	41	141				
PEX12	5193	broad.mit.edu	37	17	33903110	33903110	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:33903110G>A	uc002hjp.2	-	3	1387	c.771C>T	c.(769-771)TTC>TTT	p.F257F		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	257	Helical; (Potential).				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAACTGCAAGAAGAATACAC	0.468		NaN											0	0	0	0.812448	0	37	68				
CDK12	51755	broad.mit.edu	37	17	37687082	37687082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:37687082C>T	uc010cvv.2	+	14	4572	c.3986C>T	c.(3985-3987)TCC>TTC	p.S1329F	CDK12_uc002hrw.3_Missense_Mutation_p.S1320F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1329					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ATGGAGTACTCCACCCGACCC	0.562		NaN								TCGA Ovarian(9;0.13)			0	0	0	0.870114	0	50	62				
TBKBP1	9755	broad.mit.edu	37	17	45787901	45787901	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:45787901G>A	uc002ilu.2	+	9	2606	c.1757G>A	c.(1756-1758)TGC>TAC	p.C586Y		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	586					innate immune response						0						ATCCGCAGCTGCCCCCTCTGC	0.602		NaN											0	0	0	0.150653	0	4	65				
CACNA1G	8913	broad.mit.edu	37	17	48699087	48699087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:48699087C>G	uc002irk.1	+	35	6364	c.5992C>G	c.(5992-5994)CTA>GTA	p.L1998V	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.L1975V|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.L1927V|CACNA1G_uc002iru.1_Missense_Mutation_p.L1964V|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.L1900V|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1998	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCTGCTCTCTAGCTCTGAC	0.522		NaN											0	0	0	0.307466	0	6	54				
WDR7	23335	broad.mit.edu	37	18	54547217	54547217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:54547217C>G	uc002lgk.1	+	21	3558	c.3347C>G	c.(3346-3348)TCT>TGT	p.S1116C	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S1083C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1116										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ATTTCTACATCTTACGAGGAA	0.358		NaN											0	0	0	0.217242	0	5	59				
PCSK4	54760	broad.mit.edu	37	19	1487828	1487828	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1487828G>A	uc002ltb.1	-	5	611	c.549C>T	c.(547-549)TAC>TAT	p.Y183Y	PCSK4_uc002lta.2_Missense_Mutation_p.T25M	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	183	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGGGTCGTAGTCATTGA	0.692		NaN											0	0	0	0.150653	0	3	3				
SCAMP4	113178	broad.mit.edu	37	19	1924163	1924163	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1924163G>C	uc002luj.2	+	7	677	c.570G>C	c.(568-570)TGG>TGC	p.W190C	SCAMP4_uc002luk.2_Missense_Mutation_p.W156C|SCAMP4_uc010dss.2_Missense_Mutation_p.W146C	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	190	Cytoplasmic (Potential).				protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGGAGTGGAACACGGGCA	0.612		NaN											0	0	0	0.150653	0	4	26				
CYP4F2	8529	broad.mit.edu	37	19	16008382	16008382	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:16008382C>G	uc002nbs.1	-	2	90	c.40G>C	c.(40-42)GTG>CTG	p.V14L	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	14					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						GATGCTGCCACTGGCCAGAGG	0.672		NaN											0	0	0	0.38729	0	11	46				
ACTN4	81	broad.mit.edu	37	19	39200089	39200089	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39200089G>A	uc002oja.1	+	7	765	c.706G>A	c.(706-708)GAC>AAC	p.D236N	ACTN4_uc010egc.1_Missense_Mutation_p.D236N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	236	Actin-binding.|CH 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAATACCTCGACATCCCCAA	0.557		NaN											0	0	0	0.592651	0	17	81				
FBXO27	126433	broad.mit.edu	37	19	39516171	39516171	+	Missense_Mutation	SNP	G	G	C	rs151102214		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39516171G>C	uc002okh.2	-	6	814	c.732C>G	c.(730-732)ATC>ATG	p.I244M		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	244	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCCCATCTTGATGTTGGAGA	0.572		NaN											0	0	0	0.115264	0	3	52				
ERCC2	2068	broad.mit.edu	37	19	45854898	45854898	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:45854898G>C	uc002pbj.2	-	23	2319	c.2272C>G	c.(2272-2274)CAG>GAG	p.Q758E	ERCC2_uc002pbh.2_Missense_Mutation_p.Q321E|ERCC2_uc002pbi.2_Missense_Mutation_p.Q451E|ERCC2_uc010ejz.2_Missense_Mutation_p.Q680E	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	758					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGAGCTGCTGAGCAATCTGC	0.592		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.870114	0	39	283		Valid		
ZNF808	388558	broad.mit.edu	37	19	53056856	53056856	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53056856A>G	uc010epq.1	+	5	864	c.687A>G	c.(685-687)AAA>AAG	p.K229K	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAGAGAAAAATCTTTCCCAT	0.373		NaN											0	0	0	0.150653	0	4	229				
VN1R4	317703	broad.mit.edu	37	19	53770826	53770826	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53770826G>A	uc010ydu.1	-	1	93	c.93C>T	c.(91-93)TCC>TCT	p.S31S		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	31	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		TGCAGTAAAAGGAGAGATAAT	0.507		NaN								HNSCC(26;0.072)			0	0	0	0.217242	0	6	78				
ZNF776	284309	broad.mit.edu	37	19	58265941	58265941	+	Silent	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:58265941T>C	uc002qpx.2	+	3	1666	c.1443T>C	c.(1441-1443)ATT>ATC	p.I481I	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	481	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATTCACTCTGGAG	0.448		NaN											0	0	0	0.184627	0	3	111				
ITSN2	50618	broad.mit.edu	37	2	24521611	24521611	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:24521611G>C	uc002rfe.2	-	13	1675	c.1417C>G	c.(1417-1419)CAA>GAA	p.Q473E	ITSN2_uc002rff.2_Missense_Mutation_p.Q473E|ITSN2_uc002rfg.2_Missense_Mutation_p.Q473E|ITSN2_uc010eyd.2_Missense_Mutation_p.Q498E	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	473	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTCTTTTGATTGAGAAGC	0.368		NaN											0	0	0	0.457914	0	11	101				
AFTPH	54812	broad.mit.edu	37	2	64778744	64778744	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:64778744G>C	uc002sdc.2	+	1	168	c.136G>C	c.(136-138)GAT>CAT	p.D46H	AFTPH_uc002scz.2_Missense_Mutation_p.D46H|AFTPH_uc002sda.2_Missense_Mutation_p.D46H|AFTPH_uc002sdb.2_Missense_Mutation_p.D46H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	46					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						AGGGTTTGTTGATTTCGATAC	0.408		NaN											0	0	0	0.870114	0	99	132				
LOC285033	285033	broad.mit.edu	37	2	96906235	96906235	+	Silent	SNP	T	T	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:96906235T>A	uc002svp.1	+	1	259	c.174T>A	c.(172-174)TCT>TCA	p.S58S	LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Silent_p.S135S	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	hypothetical protein LOC285033	58											0						TCAACTCTTCTCAGGACCAGA	0.537		NaN											0	0	0	0.27861	0	5	88				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:97869979G>T	uc010yva.1	+	50	3284	c.3040G>T	c.(3040-3042)GAT>TAT	p.D1014Y	ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014											0						AGGAAAAAAGGATGGAGAAAA	0.289		NaN											1	0	0.004672	0.115264	0.00473971	3	9				
AFF3	3899	broad.mit.edu	37	2	100210557	100210557	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:100210557C>G	uc002tag.2	-	14	1802	c.1566G>C	c.(1564-1566)GAG>GAC	p.E522D	AFF3_uc002taf.2_Missense_Mutation_p.E547D|AFF3_uc010fiq.1_Missense_Mutation_p.E522D|AFF3_uc010yvr.1_Missense_Mutation_p.E675D|AFF3_uc002tah.1_Missense_Mutation_p.E547D	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	522					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGCTCTTGATCTCCTTCTCTC	0.602		NaN											0	0	0	0.248553	0	6	132				
LY75	4065	broad.mit.edu	37	2	160628465	160628465	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160628465G>T	uc002ubb.3	-	39	5588	c.5519C>A	c.(5518-5520)TCT>TAT	p.S1840Y	LY75_uc010fos.2_Missense_Mutation_p.S1784Y|CD302_uc002uba.2_Missense_Mutation_p.S199Y|CD302_uc010zco.1_Missense_Mutation_p.S141Y	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		GGTGAAACGAGAATCAGAATG	0.368		NaN											1	0	2.42023e-17	0.779181	2.54761e-17	28	59				
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160808060C>G	uc002ube.1	-	24	3538	c.3331G>C	c.(3331-3333)GAT>CAT	p.D1111H	PLA2R1_uc010zcp.1_Missense_Mutation_p.D1111H|PLA2R1_uc002ubf.2_Missense_Mutation_p.D1111H	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1111	Extracellular (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						GGATACATATCAGATGTATTT	0.363		NaN											0	0	0	0.115264	0	3	88				
SCN1A	6323	broad.mit.edu	37	2	166848014	166848014	+	Missense_Mutation	SNP	C	C	A	rs3749029		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:166848014C>A	uc010zcz.1	-	26	5756	c.5738G>T	c.(5737-5739)CGT>CTT	p.R1913L		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1924						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388		NaN											1	0	6.04164e-23	0.750413	6.4078e-23	28	64				
SF3B1	23451	broad.mit.edu	37	2	198265573	198265573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:198265573C>T	uc002uue.2	-	18	2632	c.2584G>A	c.(2584-2586)GAA>AAA	p.E862K		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	862	HEAT 7.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTACTGTTCGGCTTCATCT	0.373		NaN											0	0	0	0.479597	0	13	82				
GIGYF2	26058	broad.mit.edu	37	2	233710441	233710441	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:233710441G>A	uc002vti.3	+	28	3643	c.3306_splice	c.e28-1	p.S1102_splice	GIGYF2_uc002vtj.3_Splice_Site_p.S1123_splice|GIGYF2_uc002vtk.3_Splice_Site_p.S1102_splice|GIGYF2_uc002vth.3_Splice_Site_p.S1096_splice|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Splice_Site_p.S435_splice	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b						cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTGCTTTAGTAAATCTGTA	0.353		NaN											0	0	0	0.520397	0	16	44				
RAE1	8480	broad.mit.edu	37	20	55929795	55929795	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:55929795G>A	uc002xyg.2	+	3	459	c.118G>A	c.(118-120)GAT>AAT	p.D40N	RAE1_uc010gis.1_Missense_Mutation_p.M1I|RAE1_uc010git.1_Missense_Mutation_p.D40N|RAE1_uc002xyh.2_Missense_Mutation_p.D40N|RAE1_uc002xyi.2_Missense_Mutation_p.D40N	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	40					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATCTCCTGATGATAGCATTGG	0.398		NaN											0	0	0	0.411799	0	9	89				
CDH4	1002	broad.mit.edu	37	20	60318751	60318751	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:60318751C>T	uc002ybn.1	+	3	316	c.302C>T	c.(301-303)ACG>ATG	p.T101M	CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.T27M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	101					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGGCGTTCACGGTGACTGCA	0.607		NaN											0	0	0	0.217242	0	5	12				
AGPAT3	56894	broad.mit.edu	37	21	45401024	45401024	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr21:45401024G>A	uc002zdv.2	+	9	1220	c.998G>A	c.(997-999)GGA>GAA	p.G333E	AGPAT3_uc002zdw.2_Missense_Mutation_p.G333E|AGPAT3_uc002zdx.2_Missense_Mutation_p.G420E|AGPAT3_uc002zdy.2_Missense_Mutation_p.G271E	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	333	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGCCAGCGGATCACCTCTC	0.572		NaN											0	0	0	0.479597	0	13	96				
HIC2	23119	broad.mit.edu	37	22	21800133	21800133	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:21800133A>G	uc002zur.3	+	3	1179	c.949A>G	c.(949-951)AGC>GGC	p.S317G	HIC2_uc002zus.3_Missense_Mutation_p.S317G	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	317					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAACCACCTGAGCCTGCTGGA	0.657		NaN											0	0	0	0.248553	0	7	20				
DEPDC5	9681	broad.mit.edu	37	22	32241198	32241198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:32241198G>A	uc003als.2	+	30	3111	c.2969G>A	c.(2968-2970)CGG>CAG	p.R990Q	DEPDC5_uc011als.1_Missense_Mutation_p.R921Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R999Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R990Q|DEPDC5_uc003alu.2_Missense_Mutation_p.R439Q|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.R320Q|DEPDC5_uc003alw.2_Missense_Mutation_p.R288Q|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	990					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ATTCGCAGGCGGCATCGCTCG	0.607		NaN											0	0	0	0.520397	0	16	19				
EP300	2033	broad.mit.edu	37	22	41564853	41564853	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:41564853G>A	uc003azl.3	+	25	4549	c.4154G>A	c.(4153-4155)TGC>TAC	p.C1385Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1385					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.C1385F(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GGCTCTGACTGCCCTCCACCC	0.473		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.706142	0	23	143		Valid		
XRCC6	2547	broad.mit.edu	37	22	42042976	42042976	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:42042976C>T	uc003bao.1	+	7	920	c.850C>T	c.(850-852)CCT>TCT	p.P284S	XRCC6_uc003bap.1_Missense_Mutation_p.P243S|XRCC6_uc011apc.1_Missense_Mutation_p.P234S|XRCC6_uc003baq.1_Missense_Mutation_p.P284S|XRCC6_uc003bar.1_Missense_Mutation_p.P284S|XRCC6_uc003bas.1_Missense_Mutation_p.P234S	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	284	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						TCTCAAGCCTCCTCCAATAAA	0.433		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	0.750413	0	25	217				
FBLN1	2192	broad.mit.edu	37	22	45927195	45927195	+	Missense_Mutation	SNP	C	C	A	rs147266682		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:45927195C>A	uc003bgj.1	+	5	682	c.535C>A	c.(535-537)CGC>AGC	p.R179S	FBLN1_uc003bgg.1_Missense_Mutation_p.R179S|FBLN1_uc003bgh.2_Missense_Mutation_p.R179S|FBLN1_uc010gzz.2_Missense_Mutation_p.R217S|FBLN1_uc003bgi.1_Missense_Mutation_p.R179S	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	179	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGAATGACCGCTGCCGAGG	0.398		NaN											1	0	9.80977e-26	0.796494	1.04837e-25	29	43				
GRM7	2917	broad.mit.edu	37	3	7456742	7456742	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:7456742G>A	uc003bqm.2	+	5	1340	c.1066G>A	c.(1066-1068)GAA>AAA	p.E356K	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E356K|GRM7_uc003bql.2_Missense_Mutation_p.E356K|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	356	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CCGTACACTTGAAAACAACAG	0.403		NaN											0	0	0	0.435327	0	12	31				
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:48699002C>G	uc003cul.2	-	1	1347	c.1066G>C	c.(1066-1068)GAG>CAG	p.E356Q	CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	356	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672		NaN											0	0	0	0.457914	0	12	51				
SEMA5B	54437	broad.mit.edu	37	3	122634684	122634684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:122634684C>T	uc003efz.1	-	13	2046	c.1742G>A	c.(1741-1743)CGT>CAT	p.R581H	SEMA5B_uc011bju.1_Missense_Mutation_p.R523H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R581H|SEMA5B_uc010hro.1_Missense_Mutation_p.R523H	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	581	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGTGCTGCAACGTTGCTGCTT	0.622		NaN											0	0	0	0.788014	0	32	44				
MRPL3	11222	broad.mit.edu	37	3	131220433	131220433	+	Silent	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:131220433T>C	uc003eoh.2	-	2	383	c.219A>G	c.(217-219)TTA>TTG	p.L73L	MRPL3_uc011blo.1_5'UTR|MRPL3_uc011blp.1_Silent_p.L100L	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	73					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						GTTTACTTGCTAATTGGGCTT	0.398		NaN											0	0	0	0.870114	0	96	184				
WDR49	151790	broad.mit.edu	37	3	167254660	167254660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:167254660G>A	uc003fev.1	-	7	1202	c.896C>T	c.(895-897)ACG>ATG	p.T299M	WDR49_uc003feu.1_Missense_Mutation_p.T124M|WDR49_uc011bpd.1_Missense_Mutation_p.T363M|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	299	WD 5.									large_intestine(1)|ovary(1)|skin(1)	3						CAATTTACCCGTAACAAGAGT	0.373		NaN											0	0	0	0.520397	0	14	26				
PDGFRA	5156	broad.mit.edu	37	4	54248502	54248502	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54248502G>A	uc003haa.2	+	4	414	c.228G>A	c.(226-228)CCG>CCA	p.P76P	FIP1L1_uc003gzx.3_Silent_p.P61P|FIP1L1_uc011bzt.1_Silent_p.P76P|FIP1L1_uc003gzy.2_Silent_p.P76P|FIP1L1_uc011bzu.1_Silent_p.P61P|FIP1L1_uc003gzz.2_Silent_p.P61P|FIP1L1_uc003hab.2_Silent_p.P64P|FIP1L1_uc003hac.2_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCAAAACCGGTAACATAAG	0.348		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.361761	0	9	69				
PDGFRA	5156	broad.mit.edu	37	4	54257217	54257217	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54257217G>C	uc003haa.2	+	8	733	c.547G>C	c.(547-549)GAT>CAT	p.D183H	FIP1L1_uc003gzx.3_Missense_Mutation_p.D168H|FIP1L1_uc011bzt.1_Missense_Mutation_p.D183H|FIP1L1_uc003gzy.2_Missense_Mutation_p.D183H|FIP1L1_uc011bzu.1_Missense_Mutation_p.D168H|FIP1L1_uc003gzz.2_Missense_Mutation_p.D168H|FIP1L1_uc003hab.2_Missense_Mutation_p.D171H|FIP1L1_uc003hac.2_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTTTAATGAAGATACCTGGAA	0.303		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.184627	0	4	58				
CXCL11	6373	broad.mit.edu	37	4	76956259	76956259	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:76956259C>G	uc003hjm.2	-	3	295	c.202G>C	c.(202-204)GAA>CAA	p.E68Q	ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	NM_005409	NP_005400	O14625	CXL11_HUMAN	small inducible cytokine B11 precursor	68					cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity				0			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTTATTTTCTTTCAGGGTA	0.333		NaN											0	0	0	0.435327	0	11	73				
LRBA	987	broad.mit.edu	37	4	151357947	151357947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:151357947G>A	uc010ipj.2	-	46	7357	c.6883C>T	c.(6883-6885)CAA>TAA	p.Q2295*	LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Nonsense_Mutation_p.Q185*|LRBA_uc003ilt.3_Nonsense_Mutation_p.Q943*|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q2284*	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2295	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTGGAACTTGATCATCTTCC	0.393		NaN											0	0	0	0.435327	0	11	38				
SLC9A3	6550	broad.mit.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:485324G>A	uc003jbe.2	-	4	810	c.698C>T	c.(697-699)TCT>TTT	p.S233F	SLC9A3_uc011clx.1_Missense_Mutation_p.S233F	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	233	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632		NaN											0	0	0	0.740014	0	26	74				
SRD5A1	6715	broad.mit.edu	37	5	6656219	6656219	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:6656219G>T	uc003jdw.2	+	3	679	c.489G>T	c.(487-489)TTG>TTT	p.L163F	SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.L116F	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	163	Helical; (Potential).				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	CGGGCATGTTGATAAACATCC	0.388		NaN											1	0	1.10513e-12	0.624587	1.15462e-12	16	30				
CTNND2	1501	broad.mit.edu	37	5	10981933	10981933	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:10981933C>T	uc003jfa.1	-	21	3514	c.3369G>A	c.(3367-3369)TTG>TTA	p.L1123L	CTNND2_uc010itt.2_Silent_p.L1032L|CTNND2_uc011cmy.1_Silent_p.L786L|CTNND2_uc011cmz.1_Silent_p.L690L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L715L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1123					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AATTCCTATACAAAGTTGAAA	0.343		NaN											0	0	0	0.435327	0	10	125				
ERBB2IP	55914	broad.mit.edu	37	5	65310528	65310528	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:65310528G>A	uc003juk.1	+	7	816	c.508G>A	c.(508-510)GAA>AAA	p.E170K	ERBB2IP_uc003juh.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jui.1_Missense_Mutation_p.E170K|ERBB2IP_uc003juj.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqz.1_Missense_Mutation_p.E170K|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jul.1_Missense_Mutation_p.E170K	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	170	LRR 7.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGCTTAGAGAAAACCAGTT	0.184		NaN											0	0	0	0.307466	0	7	24				
DMXL1	1657	broad.mit.edu	37	5	118485340	118485340	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:118485340C>T	uc003ksd.2	+	18	3999	c.3818C>T	c.(3817-3819)TCT>TTT	p.S1273F	DMXL1_uc010jcl.1_Missense_Mutation_p.S1273F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1273										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACTCCAGTTCTGGGTTACAT	0.403		NaN											0	0	0	0.27861	0	7	69				
PCDHA7	56141	broad.mit.edu	37	5	140214244	140214244	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140214244C>G	uc003lhq.2	+	1	276	c.276C>G	c.(274-276)CGC>CGG	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R92R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	92	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587		NaN											0	0	0	0.870114	0	83	570				
PCDHA9	9752	broad.mit.edu	37	5	140228356	140228356	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140228356C>G	uc003lhu.2	+	1	1000	c.276C>G	c.(274-276)CGC>CGG	p.R92R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.R92R	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	92	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587		NaN											0	0	0	0.870114	0	46	19				
PCDHB11	56125	broad.mit.edu	37	5	140580672	140580672	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140580672C>G	uc003liy.2	+	1	1325	c.1325C>G	c.(1324-1326)TCT>TGT	p.S442C	PCDHB11_uc011daj.1_Missense_Mutation_p.S77C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	442	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTTGGTCTCTGACGTCAAT	0.572		NaN											0	0	0	0.870114	0	40	228				
THG1L	54974	broad.mit.edu	37	5	157159883	157159883	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:157159883G>A	uc003lxd.2	+	2	325	c.199G>A	c.(199-201)GAG>AAG	p.E67K	THG1L_uc011ddu.1_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	67					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTTTGCTGAGAAGCACAA	0.473		NaN											0	0	0	0.27861	0	6	81				
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Missense_Mutation	SNP	C	C	G	rs141600148	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:26158562C>G	uc003ngr.2	+	1	214	c.165C>G	c.(163-165)ATC>ATG	p.I55M	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.I55M	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						ACACCGGCATCTCTTCCAAGG	0.562		NaN											0	0	0	0.729181	0	30	245				
MDC1	9656	broad.mit.edu	37	6	30672587	30672587	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:30672587G>C	uc003nrg.3	-	10	4813	c.4373C>G	c.(4372-4374)TCC>TGC	p.S1458C	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1065C	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Pro-rich.|Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.567		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.870114	0	41	149				
IP6K3	117283	broad.mit.edu	37	6	33694647	33694647	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:33694647G>C	uc010jvf.2	-	5	986	c.450C>G	c.(448-450)CTC>CTG	p.L150L	IP6K3_uc003ofb.2_Silent_p.L150L	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						CTGGAGTGTTGAGGTGGGGCT	0.647		NaN											0	0	0	0.307466	0	6	129				
DAAM2	23500	broad.mit.edu	37	6	39869784	39869784	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:39869784G>A	uc003oow.2	+	25	3334	c.3178G>A	c.(3178-3180)GAG>AAG	p.E1060K	DAAM2_uc003oox.2_Missense_Mutation_p.E1059K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1060					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTACCCGGGAGCGGGCAAT	0.612		NaN											0	0	0	0.435327	0	12	32				
ABCC10	89845	broad.mit.edu	37	6	43400565	43400565	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:43400565C>T	uc003ouy.1	+	3	1062	c.847C>T	c.(847-849)CGG>TGG	p.R283W	ABCC10_uc003ouz.1_Missense_Mutation_p.R240W|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	283						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCTTTGGACGGTGCTATCT	0.627		NaN											0	0	0	0.184627	0	4	50				
PLA2G7	7941	broad.mit.edu	37	6	46684211	46684211	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:46684211G>T	uc010jzf.2	-	4	555	c.286C>A	c.(286-288)CTT>ATT	p.L96I	PLA2G7_uc010jzg.1_Missense_Mutation_p.L96I|PLA2G7_uc011dwd.1_Missense_Mutation_p.L51I|PLA2G7_uc011dwe.1_Intron	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	96					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			GGGATCCAAAGGGTGTCAAGG	0.373		NaN											1	0	2.74318e-10	0.335167	2.84478e-10	7	73				
C6orf211	79624	broad.mit.edu	37	6	151779478	151779478	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:151779478G>A	uc003qok.1	+	3	422	c.163G>A	c.(163-165)GAA>AAA	p.E55K	C6orf211_uc011ees.1_5'UTR	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	55							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CGTGGAAGCTGAAAAGAAAGC	0.348		NaN											0	0	0	0.575678	0	16	155				
WTAP	9589	broad.mit.edu	37	6	160174530	160174530	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:160174530T>C	uc003qsl.2	+	7	713	c.491T>C	c.(490-492)CTT>CCT	p.L164P	WTAP_uc003qso.2_Missense_Mutation_p.L45P	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	164					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGTCGAATGCTTATCCAGGAG	0.438		NaN											0	0	0	0.639603	0	23	45				
EVX1	2128	broad.mit.edu	37	7	27285709	27285709	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:27285709G>A	uc003szd.1	+	3	1375	c.889G>A	c.(889-891)GCC>ACC	p.A297T	EVX1_uc011jzn.1_Missense_Mutation_p.A115T|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	297	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						CTCCGCCGCCGCCTCGCCCTT	0.776		NaN											0	0	0	0.184627	0	4	15				
CASD1	64921	broad.mit.edu	37	7	94163033	94163033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:94163033C>T	uc003uni.3	+	7	774	c.547C>T	c.(547-549)CAA>TAA	p.Q183*	CASD1_uc003unh.2_Nonsense_Mutation_p.Q183*|CASD1_uc003unj.3_Nonsense_Mutation_p.Q183*	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	183						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCGCTTTCTCAATATAAAAT	0.318		NaN											0	0	0	0.520397	0	14	55				
RELN	5649	broad.mit.edu	37	7	103185777	103185777	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:103185777C>G	uc003vca.2	-	42	6477	c.6317G>C	c.(6316-6318)AGA>ACA	p.R2106T	RELN_uc010liz.2_Missense_Mutation_p.R2106T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2106					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTACCATCTGAAACGGAC	0.453		NaN											0	0	0	0.479597	0	12	42				
ZNF786	136051	broad.mit.edu	37	7	148768420	148768420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:148768420G>A	uc003wfh.2	-	4	1581	c.1444C>T	c.(1444-1446)CAG>TAG	p.Q482*	ZNF786_uc011kuk.1_Nonsense_Mutation_p.Q445*|ZNF786_uc003wfi.2_Nonsense_Mutation_p.Q396*	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	482	C2H2-type 7; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGGGCACTGAAAGGGCTTC	0.652		NaN											0	0	0	0.150653	0	3	21				
SLC7A2	6542	broad.mit.edu	37	8	17422584	17422584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:17422584C>T	uc011kyc.1	+	12	2075	c.1906C>T	c.(1906-1908)CAA>TAA	p.Q636*	SLC7A2_uc011kyd.1_Nonsense_Mutation_p.Q675*|SLC7A2_uc011kye.1_Nonsense_Mutation_p.Q676*|SLC7A2_uc011kyf.1_Nonsense_Mutation_p.Q636*	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	636	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCTGCCATTCAAGCAAATGA	0.428		NaN											0	0	0	0.307466	0	7	28				
TRIM35	23087	broad.mit.edu	37	8	27145409	27145409	+	Silent	SNP	G	G	A	rs143436239		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:27145409G>A	uc003xfl.1	-	6	1222	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	380	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCTCAGCGCCCGAGTCCT	0.692		NaN											0	0	0	0.500413	0	14	27				
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:36766906G>A	uc010lvw.2	+	21	2271	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468		NaN											0	0	0	0.435327	0	12	286				
TOPORS	10210	broad.mit.edu	37	9	32543241	32543241	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:32543241A>C	uc003zrb.2	-	3	1449	c.1282T>G	c.(1282-1284)TCA>GCA	p.S428A	TOPORS_uc003zrc.2_Missense_Mutation_p.S361A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	428					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACCTGCTCTGAGCTTGAGTAA	0.453		NaN											0	0	0	0.870114	0	77	27				
COL27A1	85301	broad.mit.edu	37	9	117002529	117002529	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:117002529C>T	uc011lxl.1	+	20	2757	c.2757C>T	c.(2755-2757)GGC>GGT	p.G919G	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	919	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GCCCCCCTGGCGACAATGGCC	0.502		NaN											0	0	0	0.870114	0	65	24				
FANCB	2187	broad.mit.edu	37	X	14882865	14882865	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:14882865G>A	uc004cwg.1	-	3	1036	c.768C>T	c.(766-768)CTC>CTT	p.L256L	FANCB_uc004cwh.1_Silent_p.L256L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	256					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TAAGGGCAATGAGAGATATTC	0.373		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.150653	0	4	50				
NXF3	56000	broad.mit.edu	37	X	102334549	102334549	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:102334549G>C	uc004eju.2	-	14	1253	c.1182C>G	c.(1180-1182)TTC>TTG	p.F394L	NXF3_uc010noi.1_Missense_Mutation_p.F244L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	394	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGCTATCCTTGAAGAACTTGC	0.507		NaN											0	0	0	0.624587	0	17	89				
GUCY2F	2986	broad.mit.edu	37	X	108628509	108628509	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:108628509G>A	uc004eod.3	-	16	3235	c.2959C>T	c.(2959-2961)CCG>TCG	p.P987S	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	987	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GCAACAACCGGCCCTATAGAG	0.473		NaN											0	0	0	0.870114	0	51	18				
RPL10	6134	broad.mit.edu	37	X	153627864	153627864	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:153627864A>G	uc004fkm.2	+	4	307	c.119A>G	c.(118-120)AAG>AGG	p.K40R	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.K40R|RPL10_uc004fkn.1_Missense_Mutation_p.K40R|RPL10_uc004fkp.1_Missense_Mutation_p.K40R|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCGGAAAAAGGCAAAAGTG	0.522		NaN									OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.217242	0	3	116				
ZBTB40	9923	broad.mit.edu	37	1	22838486	22838486	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:22838486A>T	uc001bft.2	+	12	2831	c.2320A>T	c.(2320-2322)ACC>TCC	p.T774S	ZBTB40_uc001bfu.2_Missense_Mutation_p.T774S|ZBTB40_uc009vqi.1_Missense_Mutation_p.T662S|ZBTB40_uc001bfv.1_Missense_Mutation_p.T403S	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	774					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGCAGTGAGACCAAGGATTC	0.537		NaN											0	0	0	0.003954	0	21	21				
OSCP1	127700	broad.mit.edu	37	1	36886081	36886081	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:36886081C>G	uc001cap.2	-	9	1067	c.985G>C	c.(985-987)GAG>CAG	p.E329Q	OSCP1_uc001caq.2_Missense_Mutation_p.E319Q	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	329					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						acatactcctcttcttcaTCG	0.249		NaN									OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	51	197				
ST6GALNAC3	256435	broad.mit.edu	37	1	76877711	76877711	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:76877711G>A	uc001dhh.2	+	3	395	c.232G>A	c.(232-234)GAC>AAC	p.D78N	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.D78N|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.D13N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	78	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						ACTGGACTGTGACCTTTGTGC	0.413		NaN											0	0	0	0.00361	0	47	49				
DPH5	51611	broad.mit.edu	37	1	101490988	101490988	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:101490988G>A	uc001dts.2	-	2	159	c.12C>T	c.(10-12)CTC>CTT	p.L4L	DPH5_uc001dtr.2_Silent_p.L4L|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.L4L|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Silent_p.L4L|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA|uc001dua.2_5'Flank|uc001dub.2_5'Flank	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	4					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CCAACCCGATGAGATAAAGCA	0.488		NaN											0	0	0	0.004007	0	15	45				
POLR3C	10623	broad.mit.edu	37	1	145601614	145601614	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:145601614G>A	uc001eoh.2	-	7	953	c.792C>T	c.(790-792)AGC>AGT	p.S264S	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S277S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.S264S	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	264					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCACAATCTCGCTGCTTGTCT	0.453		NaN											0	0	0	0.001984	0	6	34				
RPRD2	23248	broad.mit.edu	37	1	150444932	150444932	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:150444932C>T	uc009wlr.2	+	11	3709	c.3508C>T	c.(3508-3510)CGG>TGG	p.R1170W	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1144W	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1170							protein binding			ovary(1)	1						ATACAAGGAACGGGCACCTCA	0.532		NaN											0	0	0	0.00499	0	15	60				
ATP8B2	57198	broad.mit.edu	37	1	154320946	154320946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:154320946G>A	uc001fex.2	+	27	3325	c.3325G>A	c.(3325-3327)GTC>ATC	p.V1109I		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1095	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCACAGTCGTCTGCATCAT	0.607		NaN											0	0	0	0.010729	0	11	31				
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:158650498C>G	uc001fst.1	-	5	752	c.553G>C	c.(553-555)GAG>CAG	p.E185Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	185	Spectrin 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448		NaN											0	0	0	0.005524	0	33	58				
KIFAP3	22920	broad.mit.edu	37	1	169923248	169923248	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:169923248C>T	uc001ggv.2	-	19	2448	c.2177G>A	c.(2176-2178)GGA>GAA	p.G726E	KIFAP3_uc010plx.1_Missense_Mutation_p.G428E	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	726					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCAATTAATCCATCTAGAAA	0.343		NaN											0	0	0	0.007291	0	30	96				
CFHR4	10877	broad.mit.edu	37	1	196887480	196887480	+	Missense_Mutation	SNP	C	C	G	rs80010185	by1000genomes	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196887480C>G	uc001gto.2	+	6	1009	c.940C>G	c.(940-942)CTA>GTA	p.L314V	CFHR4_uc009wyy.2_Missense_Mutation_p.L560V|CFHR4_uc001gtp.2_Missense_Mutation_p.L561V	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	314	Sushi 5.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						TACATCAGTTCTATCATTTCA	0.363		NaN											0	0	0	0.00874	0	33	241				
CFHR2	3080	broad.mit.edu	37	1	196918666	196918666	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:196918666C>T	uc001gtq.1	+	2	217	c.140C>T	c.(139-141)ACA>ATA	p.T47I	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	47	Sushi 1.					extracellular region				skin(2)|ovary(1)	3						CAAGTTCCTACAGGGGAAGTT	0.358		NaN											0	0	0	0.008291	0	11	70				
TMEM206	55248	broad.mit.edu	37	1	212553312	212553312	+	Missense_Mutation	SNP	C	C	T	rs141387916		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:212553312C>T	uc001hjc.3	-	5	731	c.563G>A	c.(562-564)CGC>CAC	p.R188H	TMEM206_uc010pte.1_Missense_Mutation_p.R249H	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	188	Extracellular (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTTGTTCAGGCGGAACTGGAG	0.522		NaN											0	0	0	0.002299	0	22	90				
GNG4	2786	broad.mit.edu	37	1	235715501	235715501	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:235715501C>T	uc001hxe.3	-	4	590	c.136G>A	c.(136-138)GAA>AAA	p.E46K	GNG4_uc009xfz.2_Missense_Mutation_p.E46K|GNG4_uc001hxh.3_Missense_Mutation_p.E46K	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	46					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			ACGTGAGCTTCACAGTAGGCC	0.542		NaN											0	0	0	0.00361	0	82	69				
CHML	1122	broad.mit.edu	37	1	241798859	241798859	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:241798859T>G	uc001hzd.2	-	1	374	c.210A>C	c.(208-210)GAA>GAC	p.E70D	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	70					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CAGTACTTTCTTCCCCAATGT	0.418		NaN											0	0	0	0.00361	0	60	203				
TRIM58	25893	broad.mit.edu	37	1	248023982	248023982	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248023982G>A	uc001ido.2	+	2	532	c.484G>A	c.(484-486)GCC>ACC	p.A162T		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	162						intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GACTCAGGAGGCCAACGTGGG	0.483		NaN											0	0	0	0.008291	0	9	47				
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr1:248737333G>C	uc001iep.1	-	1	726	c.726C>G	c.(724-726)GCC>GCG	p.A242A		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567		NaN											0	0	0	0.008361	0	26	140				
HSPA14	51182	broad.mit.edu	37	10	14891755	14891755	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:14891755G>A	uc001inf.2	+	6	553	c.412G>A	c.(412-414)GAT>AAT	p.D138N	HSPA14_uc010qbw.1_Missense_Mutation_p.D138N	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	138					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						AGATGCAAATGATGTAGTTAT	0.338		NaN											0	0	0	0.007413	0	13	87				
OIT3	170392	broad.mit.edu	37	10	74690368	74690368	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:74690368C>T	uc001jte.1	+	8	1658	c.1440C>T	c.(1438-1440)GTC>GTT	p.V480V	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	480	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					AGGTCCCTGTCTTCAAGTTTG	0.438		NaN											0	0	0	0.00361	0	60	131				
MGEA5	10724	broad.mit.edu	37	10	103560119	103560119	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:103560119A>T	uc001ktv.2	-	8	1518	c.1075T>A	c.(1075-1077)TTA>ATA	p.L359I	MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Missense_Mutation_p.L359I|MGEA5_uc009xwt.2_Missense_Mutation_p.L122I	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	359					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTTTCTAATTTTATCTGG	0.343		NaN											0	0	0	0.010504	0	19	45				
DOCK1	1793	broad.mit.edu	37	10	128925983	128925983	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr10:128925983C>T	uc001ljt.2	+	27	2803	c.2739C>T	c.(2737-2739)ACC>ACT	p.T913T	DOCK1_uc010qun.1_Silent_p.T934T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	913					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCTCCGGACCGTGAACCGAA	0.483		NaN											0	0	0	0.001984	0	4	68				
EXT2	2132	broad.mit.edu	37	11	44146519	44146519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:44146519C>G	uc001mxz.2	+	5	1258	c.924C>G	c.(922-924)TAC>TAG	p.Y308*	EXT2_uc010rfo.1_Nonsense_Mutation_p.Y336*|EXT2_uc001mxy.2_Nonsense_Mutation_p.Y321*|EXT2_uc009ykt.2_Nonsense_Mutation_p.Y308*|EXT2_uc001mya.2_Nonsense_Mutation_p.Y341*	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	308	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						TCTTCGATTACCCACAGGTGC	0.488		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				0	0	0	0.007413	0	17	38				
OR4C46	119749	broad.mit.edu	37	11	51516060	51516060	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:51516060C>A	uc010ric.1	+	1	779	c.779C>A	c.(778-780)GCA>GAA	p.A260E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGAGACCTGCAGCTACTTTA	0.423		NaN											1	0	3.17567e-06	0.008361	3.27979e-06	19	49				
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:64029989G>A	uc001nzb.2	+	18	2149	c.2149G>A	c.(2149-2151)GAG>AAG	p.E717K	PLCB3_uc009ypg.1_Missense_Mutation_p.E717K|PLCB3_uc009yph.1_Missense_Mutation_p.E650K|PLCB3_uc009ypi.2_Missense_Mutation_p.E717K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	717	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CCCCTTCACTGAGGTCATCGT	0.647		NaN											0	0	0	0.00499	0	17	35				
SLCO1C1	53919	broad.mit.edu	37	12	20859006	20859006	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:20859006T>C	uc001rej.3	+	5	750	c.395T>C	c.(394-396)TTC>TCC	p.F132S	SLCO1C1_uc010sii.1_Missense_Mutation_p.F132S|SLCO1C1_uc010sij.1_Missense_Mutation_p.F132S|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.F132S|SLCO1C1_uc010sik.1_Missense_Mutation_p.F14S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	132	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CCTCAGTTCTTCATGGAGCAG	0.388		NaN											0	0	0	0.00361	0	53	76				
KIF21A	55605	broad.mit.edu	37	12	39730925	39730925	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:39730925C>A	uc001rly.2	-	17	2537	c.2391G>T	c.(2389-2391)CAG>CAT	p.Q797H	KIF21A_uc001rlw.2_Missense_Mutation_p.Q114H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q784H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q784H|KIF21A_uc010skl.1_Missense_Mutation_p.Q784H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	797					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTTTTCAACTGAGCAATCT	0.333		NaN											1	0	2.55716e-62	0.00361	3.06859e-62	108	45				
SFRS2IP	9169	broad.mit.edu	37	12	46318787	46318787	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:46318787C>T	uc001rox.2	-	12	3917	c.3630G>A	c.(3628-3630)CCG>CCA	p.P1210P	SFRS2IP_uc001row.2_Silent_p.P895P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1210					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CATTCATTTGCGGTTGCATCA	0.378		NaN											0	0	0	0.012319	0	18	50				
CPSF6	11052	broad.mit.edu	37	12	69652373	69652373	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:69652373G>C	uc001sut.3	+	6	808	c.698G>C	c.(697-699)GGA>GCA	p.G233A	CPSF6_uc001suu.3_Missense_Mutation_p.G270A|CPSF6_uc010stk.1_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	233	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTTTTAGCTGGACAGACTCCA	0.458		NaN											0	0	0	0.004656	0	22	32				
DDX55	57696	broad.mit.edu	37	12	124104079	124104079	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:124104079C>T	uc001ufi.2	+	13	1458	c.1434C>T	c.(1432-1434)GAC>GAT	p.D478D	DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.D331D|DDX55_uc001ufl.2_Silent_p.D85D	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	478							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGCCCGTGGACGTTAATACCG	0.393		NaN											0	0	0	0.012319	0	21	61				
PCDH17	27253	broad.mit.edu	37	13	58207677	58207677	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:58207677G>T	uc001vhq.1	+	1	1889	c.997G>T	c.(997-999)GCC>TCC	p.A333S	PCDH17_uc010aec.1_Missense_Mutation_p.A333S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	333	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTATCCCAGCCCACTGCAA	0.627		NaN											1	0	1.64293e-13	0.00333	1.83194e-13	21	51				
GPC5	2262	broad.mit.edu	37	13	92345804	92345804	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr13:92345804A>T	uc010tif.1	+	3	1055	c.689A>T	c.(688-690)AAT>ATT	p.N230I		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	230						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGGCACTCAATCTGGGCATT	0.542		NaN											0	0	0	0.003954	0	27	6				
AKAP6	9472	broad.mit.edu	37	14	33291375	33291375	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:33291375C>T	uc001wrq.2	+	13	4526	c.4356C>T	c.(4354-4356)GAC>GAT	p.D1452D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1452					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATACCCCTGACTGTTTGGGAG	0.363		NaN											0	0	0	0.003954	0	24	19				
DACT1	51339	broad.mit.edu	37	14	59113073	59113073	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr14:59113073G>A	uc001xdw.2	+	4	1896	c.1732G>A	c.(1732-1734)GTC>ATC	p.V578I	DACT1_uc010trv.1_Missense_Mutation_p.V297I|DACT1_uc001xdx.2_Missense_Mutation_p.V541I|DACT1_uc010trw.1_Missense_Mutation_p.V297I	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	578					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GAACATGGGCGTCGTGAAGAA	0.657		NaN											0	0	0	0.00308	0	7	19				
FMN1	342184	broad.mit.edu	37	15	33091032	33091032	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:33091032C>T	uc001zhf.3	-	15	3434	c.3434G>A	c.(3433-3435)CGG>CAG	p.R1145Q		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1368	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTACTCTCCCGTTTCCAAAT	0.408		NaN											0	0	0	0.001368	0	11	14				
COX5A	9377	broad.mit.edu	37	15	75221462	75221462	+	Missense_Mutation	SNP	C	C	T	rs150174803		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr15:75221462C>T	uc002azi.3	-	2	352	c.212G>A	c.(211-213)CGT>CAT	p.R71H		NM_004255	NP_004246	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va precursor	71					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding				0						ATTACCTTTACGCAATTCCCA	0.413		NaN											0	0	0	0.00361	0	48	72				
CRAMP1L	57585	broad.mit.edu	37	16	1706030	1706030	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:1706030G>T	uc010uvh.1	+	9	1272	c.1272G>T	c.(1270-1272)GTG>GTT	p.V424V	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	424						nucleus	DNA binding				0						TCTGCACAGTGCACTGGCAGG	0.667		NaN											1	0	2.27111e-07	0.001368	2.38467e-07	11	6				
PRSS36	146547	broad.mit.edu	37	16	31150574	31150574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:31150574G>A	uc002ebd.2	-	15	2512	c.2453C>T	c.(2452-2454)TCC>TTC	p.S818F	PRSS36_uc010vff.1_Missense_Mutation_p.S593F|PRSS36_uc010vfg.1_Missense_Mutation_p.S813F|PRSS36_uc010vfh.1_Missense_Mutation_p.S715F	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	818					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						CCAGTGTGGGGAGCCACTGGG	0.632		NaN											0	0	0	0.001368	0	10	61				
CDH16	1014	broad.mit.edu	37	16	66948291	66948291	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:66948291A>G	uc002eql.2	-	7	681	c.608T>C	c.(607-609)CTG>CCG	p.L203P	CDH16_uc010cdy.2_Missense_Mutation_p.L203P|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	203	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTCCTCTCCAGGGCGTGGTC	0.607		NaN											0	0	0	0.00333	0	25	7				
PKD1L2	114780	broad.mit.edu	37	16	81173269	81173269	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr16:81173269G>A	uc002fgh.1	-	33	5466	c.5466C>T	c.(5464-5466)ATC>ATT	p.I1822I	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1822	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCCCACCAGGATGCACCACC	0.622		NaN											0	0	0	0.001168	0	5	2				
YBX2	51087	broad.mit.edu	37	17	7193038	7193038	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7193038G>A	uc002gfq.2	-	7	912	c.855C>T	c.(853-855)TTC>TTT	p.F285F		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	285	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0						GCCTGGGGCGGAAAGGCCTAA	0.672		NaN											0	0	0	0.00361	0	56	27				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	51	20		Valid		
LHX1	3975	broad.mit.edu	37	17	35300098	35300098	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:35300098G>A	uc002hnh.1	+	5	1887	c.891G>A	c.(889-891)CCG>CCA	p.P297P		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	297					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				ACTTCTTCCCGCAAGGCCCCC	0.637		NaN											0	0	0	0.001984	0	6	5				
KCTD2	23510	broad.mit.edu	37	17	73055695	73055695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:73055695G>T	uc002jmp.2	+	4	698	c.631G>T	c.(631-633)GAA>TAA	p.E211*	KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	211						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					CTGGAAATTCGAACAGGTACA	0.537		NaN											1	0	3.27435e-08	0.00245	3.49634e-08	13	15				
CARD14	79092	broad.mit.edu	37	17	78169063	78169063	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78169063C>T	uc002jxw.1	+	10	1625	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.A477V|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.A240V|CARD14_uc010dhu.1_Missense_Mutation_p.A275V	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	477					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGCCCCGCGCCCCCCAGC	0.657		NaN											0	0	0	0.010729	0	10	12				
NPTX1	4884	broad.mit.edu	37	17	78444649	78444649	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr17:78444649G>T	uc002jyp.1	-	5	1421	c.1263C>A	c.(1261-1263)ACC>ACA	p.T421T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	421	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			AGGTCCACTTGGTGGCCCCTC	0.642		NaN											1	0	8.16277e-20	0.006999	9.35009e-20	37	19				
GNA15	2769	broad.mit.edu	37	19	3151744	3151744	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:3151744C>T	uc002lxf.2	+	4	783	c.525C>T	c.(523-525)TAC>TAT	p.Y175Y		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	175					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGGGCTACGTCCCCACAG	0.637		NaN											0	0	0	0.00361	0	41	74				
PRAM1	84106	broad.mit.edu	37	19	8563950	8563950	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:8563950C>T	uc002mkd.2	-	2	762	c.742G>A	c.(742-744)GAG>AAG	p.E248K	PRAM1_uc002mkc.2_Missense_Mutation_p.E248K	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	296	Pro-rich.						lipid binding|protein binding				0						TGAGCGGCCTCGCTGAACTCA	0.632		NaN											0	0	0	0.001855	0	12	20				
ZNF431	170959	broad.mit.edu	37	19	21365524	21365524	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:21365524G>C	uc002npp.2	+	5	565	c.418G>C	c.(418-420)GAG>CAG	p.E140Q	ZNF431_uc010ecq.2_Missense_Mutation_p.E49Q|ZNF431_uc010ecr.2_Missense_Mutation_p.E141Q	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGTGAACATGAGAATTTACA	0.368		NaN											0	0	0	0.001855	0	12	34				
ZNF607	84775	broad.mit.edu	37	19	38189554	38189554	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:38189554G>C	uc002ohc.1	-	5	2074	c.1478C>G	c.(1477-1479)ACT>AGT	p.T493S	ZNF607_uc002ohb.1_Missense_Mutation_p.T492S	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	493	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCGATGTATAGTGAGTTTATG	0.393		NaN											0	0	0	0.010818	0	26	99				
ZNF780A	284323	broad.mit.edu	37	19	40580998	40580998	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:40580998C>T	uc002omy.2	-	6	1576	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E451K|ZNF780A_uc010xvh.1_Missense_Mutation_p.E452K	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	451	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCCATCTCACATTCCCTA	0.403		NaN											0	0	0	0.00361	0	44	167				
C19orf48	84798	broad.mit.edu	37	19	51301486	51301486	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:51301486C>T	uc002ptf.2	-	5	1142	c.220G>A	c.(220-222)GAC>AAC	p.D74N	C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.D74N	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	74										ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TAGGCCTGGTCACAATAGGGA	0.632		NaN											0	0	0	0.002299	0	23	129				
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52909178G>A	uc002pzh.2	+	5	460	c.34G>A	c.(34-36)GAT>AAT	p.D12N	ZNF528_uc002pzi.2_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458		NaN											0	0	0	0.009718	0	39	234				
ZNF534	147658	broad.mit.edu	37	19	52942185	52942185	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:52942185A>G	uc002pzk.2	+	4	1572	c.1511A>G	c.(1510-1512)GAG>GGG	p.E504G	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.E491G	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATACTGGAGAGAAGCTTTAC	0.398		NaN											0	0	0	0.000602	0	5	28				
NLRP9	338321	broad.mit.edu	37	19	56243996	56243996	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:56243996C>G	uc002qly.2	-	2	1229	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	401	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAATTCCCTCTGCAGCCAAA	0.458		NaN											0	0	0	0.003954	0	20	143				
ZNF71	58491	broad.mit.edu	37	19	57133733	57133733	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr19:57133733G>A	uc002qnm.3	+	3	1316	c.1078G>A	c.(1078-1080)GGC>AGC	p.G360S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	360	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CAGCGAGTGCGGCAAGGCCTT	0.627		NaN											0	0	0	0.012319	0	21	98				
BIRC6	57448	broad.mit.edu	37	2	32640936	32640936	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:32640936C>G	uc010ezu.2	+	10	2711	c.2577C>G	c.(2575-2577)CTC>CTG	p.L859L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	859					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTACCTCGCTCATTTTGCTTC	0.388		NaN											0	0	0	0.00333	0	22	26				
ANAPC1	64682	broad.mit.edu	37	2	112541911	112541911	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:112541911G>T	uc002thi.2	-	41	5231	c.4984C>A	c.(4984-4986)CTT>ATT	p.L1662I		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1662					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						TGCTTTAAAAGATGGAGTTCT	0.438		NaN											1	0	3.80469e-20	0.009535	4.43881e-20	21	148				
MARCO	8685	broad.mit.edu	37	2	119752005	119752005	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:119752005C>T	uc002tln.1	+	17	1604	c.1472C>T	c.(1471-1473)ACG>ATG	p.T491M	MARCO_uc010yyf.1_Missense_Mutation_p.T413M	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	491	SRCR.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TGTCGGGGCACGGAGAGTACC	0.552		NaN											0	0	0	0.007413	0	17	60				
TTN	7273	broad.mit.edu	37	2	179404371	179404371	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179404371G>A	uc010zfg.1	-	301	90941	c.90717C>T	c.(90715-90717)GAC>GAT	p.D30239D	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D23934D|TTN_uc010zfi.1_Silent_p.D23867D|TTN_uc010zfj.1_Silent_p.D23742D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31166							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTTGGATGTCATCATATT	0.507		NaN											0	0	0	0.00623	0	38	56				
TTN	7273	broad.mit.edu	37	2	179528611	179528611	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:179528611T>G	uc010zfk.1	-	15	1369	c.821A>C	c.(820-822)GAG>GCG	p.E274A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGGATAACCTCTTTGGAAGC	0.418		NaN											0	0	0	0.003271	0	30	115				
ZDBF2	57683	broad.mit.edu	37	2	207169716	207169716	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr2:207169716T>C	uc002vbp.2	+	5	714	c.464T>C	c.(463-465)ATT>ACT	p.I155T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	155							nucleic acid binding|zinc ion binding			ovary(3)	3						GTTCATAAAATTGGGGCCAGT	0.448		NaN											0	0	0	0.001855	0	14	10				
PCSK2	5126	broad.mit.edu	37	20	17339006	17339006	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr20:17339006G>A	uc002wpm.2	+	3	637	c.317G>A	c.(316-318)CGA>CAA	p.R106Q	PCSK2_uc002wpl.2_Missense_Mutation_p.R87Q|PCSK2_uc010zrm.1_Missense_Mutation_p.R71Q	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	106					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATTTGACCGAAAAAAGCGA	0.388		NaN											0	0	0	0.005443	0	22	52				
ADAMTS5	11096	broad.mit.edu	37	21	28302365	28302365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr21:28302365C>T	uc002ymg.2	-	7	2794	c.2065G>A	c.(2065-2067)GAA>AAA	p.E689K		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	689	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AGCCTACATTCAGTGCCATCG	0.478		NaN											0	0	0	0.00874	0	38	102				
COMT	1312	broad.mit.edu	37	22	19951164	19951164	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:19951164C>T	uc002zqu.2	+	4	614	c.365C>T	c.(364-366)TCA>TTA	p.S122L	COMT_uc002zqt.2_Missense_Mutation_p.S122L|COMT_uc002zqv.2_Missense_Mutation_p.S122L|COMT_uc002zqw.2_Missense_Mutation_p.S122L|COMT_uc011ahd.1_Missense_Mutation_p.S122L|COMT_uc002zqx.2_Missense_Mutation_p.S122L	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	122		S-adenosyl-L-methionine.			neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TGTGGCTACTCAGCTGTGCGC	0.647		NaN											0	0	0	0.003755	0	33	38				
MTMR3	8897	broad.mit.edu	37	22	30415660	30415660	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:30415660G>A	uc003agv.3	+	17	2340	c.2012G>A	c.(2011-2013)AGA>AAA	p.R671K	MTMR3_uc003agu.3_Missense_Mutation_p.R671K|MTMR3_uc003agw.3_Missense_Mutation_p.R671K	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	671					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGCCCACCAGAGTGCCGGGG	0.622		NaN											0	0	0	0.00361	0	53	38				
ELFN2	114794	broad.mit.edu	37	22	37769638	37769638	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:37769638T>A	uc003asq.3	-	3	2723	c.1937A>T	c.(1936-1938)GAC>GTC	p.D646V		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	646	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GTCGGGCACGTCCAGGCTAAA	0.672		NaN											0	0	0	0.001168	0	5	10				
CYB5R3	1727	broad.mit.edu	37	22	43032743	43032743	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr22:43032743G>A	uc003bcz.2	-	2	215	c.131C>T	c.(130-132)CCG>CTG	p.P44L	CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.P34L|CYB5R3_uc011aps.1_Missense_Mutation_p.P77L|CYB5R3_uc003bcy.2_Missense_Mutation_p.P21L|CYB5R3_uc003bcx.2_Missense_Mutation_p.P21L	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	44	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GAGCCGCAGCGGGTACTTGAT	0.632		NaN											0	0	0	0.004482	0	7	7				
OGG1	4968	broad.mit.edu	37	3	9798767	9798767	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:9798767G>A	uc003bsi.2	+	7	1314	c.971G>A	c.(970-972)CGC>CAC	p.R324H	OGG1_uc003bsh.2_3'UTR|OGG1_uc003bsj.2_Missense_Mutation_p.A330T|OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.A95T|OGG1_uc010hcm.1_Missense_Mutation_p.A117T|OGG1_uc003bsq.1_Missense_Mutation_p.A39T|OGG1_uc003bsr.1_Missense_Mutation_p.R89H	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	324					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					GCCGACCTGCGCCAATCCCGC	0.602		NaN						BER_DNA_glycosylases					0	0	0	0.012213	0	32	110				
PPARG	5468	broad.mit.edu	37	3	12475606	12475606	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:12475606C>T	uc003bwx.2	+	7	1571	c.1480C>T	c.(1480-1482)CAC>TAC	p.H494Y	PPARG_uc003bwr.2_Missense_Mutation_p.H466Y|PPARG_uc003bws.2_Missense_Mutation_p.H466Y|PPARG_uc003bwu.2_Missense_Mutation_p.H466Y|PPARG_uc003bwv.2_3'UTR	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	494	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CATGAGTCTTCACCCGCTCCT	0.502		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						0	0	0	0.012213	0	29	16				
GLYCTK	132158	broad.mit.edu	37	3	52326880	52326880	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:52326880G>T	uc003ddo.2	+	5	1406	c.1310G>T	c.(1309-1311)TGG>TTG	p.W437L	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Missense_Mutation_p.W101L	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	437					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TTGAGAAGGTGGCCGCTGGGG	0.662		NaN											1	0	1.81118e-26	0.00361	2.13279e-26	44	34				
OR5K1	26339	broad.mit.edu	37	3	98188871	98188871	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:98188871G>T	uc003dsm.2	+	1	451	c.451G>T	c.(451-453)GCT>TCT	p.A151S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						GGCCTTCATAGCTGGAAACCT	0.443		NaN											1	0	4.14481e-20	0.00623	4.79125e-20	39	76				
TAGLN3	29114	broad.mit.edu	37	3	111719695	111719695	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:111719695C>T	uc003dym.2	+	3	635	c.257C>T	c.(256-258)GCT>GTT	p.A86V	TAGLN3_uc003dyl.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyn.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyo.2_Missense_Mutation_p.A86V	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN	transgelin 3	86	CH.				central nervous system development|muscle organ development						0						TCAAAGATGGCTTTTAAGCAG	0.488		NaN											0	0	0	0.00361	0	60	225				
GRAMD1C	54762	broad.mit.edu	37	3	113627845	113627845	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:113627845A>C	uc003eaq.3	+	9	906	c.830A>C	c.(829-831)AAA>ACA	p.K277T	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.K110T|GRAMD1C_uc003eas.2_Missense_Mutation_p.K72T	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	277						integral to membrane				ovary(2)|skin(1)	3						AAACAGACCAAAAAGAGTCTC	0.363		NaN											0	0	0	0.00361	0	77	20				
PARP15	165631	broad.mit.edu	37	3	122354758	122354758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:122354758C>A	uc003efm.2	+	12	1914	c.1848C>A	c.(1846-1848)TAC>TAA	p.Y616*	PARP15_uc003efn.2_Nonsense_Mutation_p.Y421*|PARP15_uc003efo.1_Nonsense_Mutation_p.Y363*|PARP15_uc003efp.1_Nonsense_Mutation_p.Y382*|PARP15_uc011bjt.1_Nonsense_Mutation_p.Y313*	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	594	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		AGCACATGTACGTTGTGCGAG	0.483		NaN											1	0	1.33834e-09	0.007413	1.44129e-09	19	65				
CEP63	80254	broad.mit.edu	37	3	134278206	134278206	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:134278206A>G	uc003eqo.1	+	15	2337	c.1888A>G	c.(1888-1890)AAT>GAT	p.N630D	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	630					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						GCTAGATACAAATGAAGCCAA	0.403		NaN											0	0	0	0.008871	0	21	60				
SI	6476	broad.mit.edu	37	3	164697153	164697153	+	Silent	SNP	T	T	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr3:164697153T>A	uc003fei.2	-	48	5543	c.5481A>T	c.(5479-5481)TCA>TCT	p.S1827S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1827	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTGATCTTCATGACCAGTTGA	0.318		NaN								HNSCC(35;0.089)			0	0	0	0.008361	0	28	117				
WDR1	9948	broad.mit.edu	37	4	10079467	10079467	+	Silent	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:10079467G>A	uc003gmf.2	-	13	1762	c.1479C>T	c.(1477-1479)ACC>ACT	p.T493T	WDR1_uc003gmg.2_Silent_p.T353T|WDR1_uc010idm.2_RNA	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	493	WD 9.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGGCCACGTCGGTCACGGGGC	0.652		NaN											0	0	0	0.000602	0	5	8				
PCDH7	5099	broad.mit.edu	37	4	30726012	30726012	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:30726012C>T	uc003gsk.1	+	1	3976	c.2968C>T	c.(2968-2970)CCT>TCT	p.P990S	PCDH7_uc011bxw.1_Missense_Mutation_p.P943S|PCDH7_uc011bxx.1_Missense_Mutation_p.P990S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	990	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GCCCGGCAGTCCTGACCTGGC	0.507		NaN											0	0	0	0.006122	0	18	41				
PRKG2	5593	broad.mit.edu	37	4	82058586	82058586	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:82058586G>T	uc003hmh.2	-	12	1609	c.1595C>A	c.(1594-1596)GCC>GAC	p.A532D	PRKG2_uc011ccf.1_Missense_Mutation_p.A112D|PRKG2_uc011ccg.1_Missense_Mutation_p.A112D|PRKG2_uc011cch.1_Missense_Mutation_p.A503D	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	532	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						ACCTAAGCAGGCCTCCAGAAG	0.338		NaN											1	0	4.59853e-10	0.005443	5.03839e-10	23	64				
GRID2	2895	broad.mit.edu	37	4	94344056	94344056	+	Silent	SNP	C	C	T	rs78407646	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr4:94344056C>T	uc011cdt.1	+	10	1740	c.1482C>T	c.(1480-1482)CAC>CAT	p.H494H	GRID2_uc011cdu.1_Silent_p.H399H	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	494	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACCGGATCACAAATACGGAA	0.398		NaN											0	0	0	0.012319	0	19	39				
MAP1B	4131	broad.mit.edu	37	5	71492471	71492471	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:71492471G>A	uc003kbw.3	+	5	3530	c.3289G>A	c.(3289-3291)GAG>AAG	p.E1097K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1114K|MAP1B_uc010iyx.1_Missense_Mutation_p.E971K|MAP1B_uc010iyy.1_Missense_Mutation_p.E971K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1097						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGAGAGCGAGGCCACCGC	0.522		NaN											0	0	0	0.004482	0	8	14				
CAMK4	814	broad.mit.edu	37	5	110784840	110784840	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:110784840C>G	uc011cvj.1	+	8	663	c.564C>G	c.(562-564)CTC>CTG	p.L188L	CAMK4_uc003kpf.2_Silent_p.L188L|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	188	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTTTGGACTCTCTAAAATTG	0.299		NaN											0	0	0	0.004482	0	9	29				
FAM170A	340069	broad.mit.edu	37	5	118969677	118969677	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:118969677C>A	uc003ksm.2	+	3	444	c.234C>A	c.(232-234)GAC>GAA	p.D78E	FAM170A_uc003ksl.2_Missense_Mutation_p.D78E|FAM170A_uc003ksn.2_Missense_Mutation_p.D78E|FAM170A_uc003kso.2_Missense_Mutation_p.D31E	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	78						intracellular	zinc ion binding			skin(1)	1						TACATCGAGACAGCCCCCAGC	0.502		NaN											1	0	0.00198382	0.001984	0.00201582	7	35				
RAPGEF6	51735	broad.mit.edu	37	5	130834176	130834176	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:130834176T>C	uc003kvn.1	-	12	1585	c.1379A>G	c.(1378-1380)AAA>AGA	p.K460R	RAPGEF6_uc003kvp.1_Missense_Mutation_p.K510R|RAPGEF6_uc003kvo.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdi.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdj.1_Missense_Mutation_p.K460R|RAPGEF6_uc003kvq.2_Missense_Mutation_p.K177R|RAPGEF6_uc003kvr.2_Missense_Mutation_p.K460R|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.K460R	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	460	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCCAATAGTTTGATCCCAAC	0.318		NaN											0	0	0	0.00361	0	64	23				
CSF1R	1436	broad.mit.edu	37	5	149449851	149449851	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr5:149449851T>G	uc003lrl.2	-	8	1408	c.1213A>C	c.(1213-1215)AGC>CGC	p.S405R	CSF1R_uc011dcd.1_Missense_Mutation_p.S257R|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.S405R	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	405	Ig-like C2-type 5.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CATATGACGCTTACCTCTGGG	0.597		NaN											0	0	0	0.007835	0	32	21				
PECI	10455	broad.mit.edu	37	6	4133898	4133898	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:4133898C>T	uc003mwf.2	-	2	135	c.98G>A	c.(97-99)AGA>AAA	p.R33K	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.R3K|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA|uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	33					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CATTGCTGTTCTATTCATGTG	0.413		NaN											0	0	0	0.00361	0	48	32				
HIVEP1	3096	broad.mit.edu	37	6	12120592	12120592	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:12120592C>T	uc003nac.2	+	4	743	c.564C>T	c.(562-564)TCC>TCT	p.S188S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	188					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACTACGTCCCCCTCCTATA	0.448		NaN											0	0	0	0.003755	0	31	45				
CLIC5	53405	broad.mit.edu	37	6	45917028	45917028	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:45917028G>T	uc003oxv.3	-	3	847	c.741C>A	c.(739-741)ATC>ATA	p.I247I	CLIC5_uc003oxu.3_Silent_p.I88I|CLIC5_uc003oxx.2_Silent_p.I88I	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	247					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GGAACTCCTCGATCTTATTGA	0.532		NaN											1	0	8.4185e-14	0.012213	9.47082e-14	29	73				
NMBR	4829	broad.mit.edu	37	6	142397093	142397093	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:142397093G>A	uc003qiu.2	-	3	1006	c.865C>T	c.(865-867)CGG>TGG	p.R289W		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	289	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGAAAGACCGATACATGTAA	0.428		NaN											0	0	0	0.002299	0	23	27				
STXBP5	134957	broad.mit.edu	37	6	147648378	147648378	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:147648378C>T	uc003qlz.2	+	18	2207	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	STXBP5_uc010khz.1_Silent_p.P682P|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.P353P|STXBP5_uc003qma.2_Silent_p.P29P	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	682	WD 10.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAGAGAACCCCGATCTCCTC	0.418		NaN											0	0	0	0.003271	0	27	23				
GLCCI1	113263	broad.mit.edu	37	7	8110599	8110599	+	Silent	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:8110599C>A	uc003srk.2	+	6	1574	c.1015C>A	c.(1015-1017)CGG>AGG	p.R339R		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	339											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCTCATTACCGGAGCAGTAG	0.493		NaN											1	0	2.70639e-06	0.002299	2.81823e-06	21	60				
UPK3B	80761	broad.mit.edu	37	7	76140331	76140331	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:76140331C>T	uc003ufq.2	+	1	587	c.362C>T	c.(361-363)GCC>GTC	p.A121V	UPK3B_uc003ufo.2_Missense_Mutation_p.A66V|UPK3B_uc010ldk.1_Missense_Mutation_p.A66V	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	uroplakin 3B isoform a	121	Lumenal (Potential).				negative regulation of gene expression	integral to membrane|plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(862;0.204)				CTTGCCAGCGCCAGCGATACC	0.632		NaN											0	0	0	0.000602	0	5	19				
SLC25A40	55972	broad.mit.edu	37	7	87476434	87476434	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:87476434C>A	uc003uje.2	-	8	812	c.461G>T	c.(460-462)GGT>GTT	p.G154V		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	154	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)	1	Esophageal squamous(14;0.00202)					AGTTACTGCACCAACTAATAC	0.303		NaN											1	0	5.1993e-48	0.00361	6.18029e-48	116	108				
TECPR1	25851	broad.mit.edu	37	7	97862830	97862830	+	Silent	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97862830C>G	uc003upg.2	-	11	1780	c.1575G>C	c.(1573-1575)CCG>CCC	p.P525P	TECPR1_uc003uph.1_Silent_p.P455P	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	525						integral to membrane	protein binding			pancreas(1)	1						CCACCCCATACGGCTCCTCCA	0.667		NaN											0	0	0	0.000602	0	5	12				
BAIAP2L1	55971	broad.mit.edu	37	7	97922840	97922840	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:97922840A>G	uc003upj.2	-	14	1792	c.1529T>C	c.(1528-1530)ATT>ACT	p.I510T		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	510	Binds F-actin.			Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia.	filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTCATCGAATGATGGGTGC	0.567		NaN											0	0	0	0.00361	0	153	90				
EXOC4	60412	broad.mit.edu	37	7	133314839	133314839	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:133314839T>C	uc003vrk.2	+	10	1494	c.1459T>C	c.(1459-1461)TTT>CTT	p.F487L	EXOC4_uc011kpo.1_Missense_Mutation_p.F386L|EXOC4_uc003vrl.2_Missense_Mutation_p.F97L|EXOC4_uc011kpp.1_Missense_Mutation_p.F19L	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	487					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AGGAACAAAATTTGTCTGCAA	0.343		NaN											0	0	0	0.00361	0	104	61				
CNTNAP2	26047	broad.mit.edu	37	7	147869367	147869367	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr7:147869367G>A	uc003weu.1	+	18	3323	c.2807G>A	c.(2806-2808)TGC>TAC	p.C936Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	936	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCTGGGCTGCATCCGCTCC	0.532		NaN								HNSCC(39;0.1)			0	0	0	0.004482	0	9	65				
SORBS3	10174	broad.mit.edu	37	8	22412401	22412401	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:22412401C>T	uc003xbv.2	+	3	468	c.128C>T	c.(127-129)TCC>TTC	p.S43F	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	43					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AATGGTGGCTCCAACACCCTT	0.657		NaN											0	0	0	0.010771	0	39	57				
ZFHX4	79776	broad.mit.edu	37	8	77766952	77766952	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:77766952G>A	uc003yav.2	+	10	8047	c.7660G>A	c.(7660-7662)GGT>AGT	p.G2554S	ZFHX4_uc003yau.1_Missense_Mutation_p.G2599S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2554S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2554						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGGAATAGCGGTGAAGACCA	0.458		NaN								HNSCC(33;0.089)			0	0	0	0.001368	0	12	29				
SLC10A5	347051	broad.mit.edu	37	8	82606405	82606405	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:82606405T>G	uc011lfs.1	-	1	803	c.803A>C	c.(802-804)CAT>CCT	p.H268P		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	268	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AACAGGAATATGGAATGTACC	0.363		NaN											0	0	0	0.000602	0	4	123				
STK3	6788	broad.mit.edu	37	8	99468111	99468111	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:99468111C>G	uc003yip.2	-	11	1576	c.1435G>C	c.(1435-1437)GAT>CAT	p.D479H	STK3_uc003yio.2_Missense_Mutation_p.D507H	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	479	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCATCGCATCCAGAATGGGC	0.423		NaN											0	0	0	0.00278	0	20	25				
RSPO2	340419	broad.mit.edu	37	8	108972969	108972969	+	Silent	SNP	A	A	G	rs113070894		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:108972969A>G	uc003yms.2	-	4	1018	c.360T>C	c.(358-360)CAT>CAC	p.H120H	RSPO2_uc003ymq.2_Silent_p.H53H|RSPO2_uc003ymr.2_Silent_p.H57H	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	120	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AACGGCCTCTATGCAAATAAA	0.358		NaN											0	0	0	0.004289	0	30	46				
SLC30A8	169026	broad.mit.edu	37	8	118159254	118159254	+	Missense_Mutation	SNP	C	C	A	rs148043363	byFrequency	TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:118159254C>A	uc003yoh.2	+	2	363	c.133C>A	c.(133-135)CTG>ATG	p.L45M	SLC30A8_uc010mcz.2_Translation_Start_Site|SLC30A8_uc011lia.1_Translation_Start_Site|SLC30A8_uc003yog.2_Translation_Start_Site	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	45	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACCAGAGGAGCTGGAGTCAGG	0.502		NaN											1	0	4.16155e-14	0.00874	4.72392e-14	43	95				
PARP10	84875	broad.mit.edu	37	8	145057980	145057980	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr8:145057980C>T	uc003zal.3	-	8	1886	c.1778_splice	c.e8-1	p.E593_splice	PARP10_uc003zak.3_Splice_Site_p.E290_splice|PARP10_uc011lku.1_Splice_Site_p.E605_splice|PARP10_uc011lkv.1_Splice_Site|PARP10_uc003zam.2_Splice_Site_p.E584_splice	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10							Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGACCTCCTCTGGGGGCAGG	0.632		NaN											0	0	0	0.008291	0	9	35				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.00245	0	10	2		Valid		
ZCCHC6	79670	broad.mit.edu	37	9	88937354	88937354	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:88937354C>A	uc004aoq.2	-	14	3129	c.2914G>T	c.(2914-2916)GGT>TGT	p.G972C	ZCCHC6_uc010mqe.2_5'Flank|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.G972C	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	972	CCHC-type 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTTAGATGACCCTCTCGTTTG	0.408		NaN											1	0	3.41278e-10	0.00499	3.77202e-10	15	36				
DAPK1	1612	broad.mit.edu	37	9	90262309	90262309	+	Silent	SNP	G	G	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:90262309G>T	uc004apc.2	+	14	1458	c.1320G>T	c.(1318-1320)GTG>GTT	p.V440V	DAPK1_uc004ape.2_Silent_p.V440V|DAPK1_uc004apd.2_Silent_p.V440V|DAPK1_uc011ltg.1_Silent_p.V440V|DAPK1_uc011lth.1_Silent_p.V177V|DAPK1_uc004apf.1_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	440	ANK 2.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CTTTGGATGTGAAAGACAAGG	0.522		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				1	0	6.94344e-10	0.006122	7.54202e-10	15	47				
CKS2	1164	broad.mit.edu	37	9	91926143	91926143	+	Translation_Start_Site	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:91926143C>T	uc004aqh.2	+	1	31	c.-64C>T	c.(-66--62)GACGT>GATGT		hsa-mir-3153|MI0014180_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	CDC28 protein kinase 2						cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity				0						CTGGGCTGGACGTGGTTTTGT	0.607		NaN											0	0	0	0.001984	0	7	22				
ABL1	25	broad.mit.edu	37	9	133729585	133729585	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr9:133729585T>G	uc004bzw.2	+	2	217	c.214T>G	c.(214-216)TTT>GTT	p.F72V	ABL1_uc004bzv.2_Missense_Mutation_p.F91V	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	72	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTGTATGATTTTGTGGCCAG	0.488		NaN	T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								0	0	0	0.009096	0	4	89				
ZCCHC18	644353	broad.mit.edu	37	X	103359015	103359015	+	Silent	SNP	C	C	T			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chrX:103359015C>T	uc011msh.1	+	3	1529	c.213C>T	c.(211-213)GTC>GTT	p.V71V	MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	71							nucleic acid binding|zinc ion binding				0						TCAATGAGGTCCTGCCAGATT	0.507		NaN											0	0	0	0.003954	0	24	7				
PTCHD2	57540	broad.mit.edu	37	1	11596632	11596632	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11596632C>T	uc001ash.3	+	21	4206	c.4068C>T	c.(4066-4068)TTC>TTT	p.F1356F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1356	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGACTTCCTTCCTCAAGGCCC	0.672		NaN											0	0	0	0.00499	0	15	14				
AGTRAP	57085	broad.mit.edu	37	1	11810185	11810185	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:11810185C>T	uc001asv.2	+	5	540	c.416C>T	c.(415-417)GCA>GTA	p.A139V	AGTRAP_uc001ast.2_3'UTR|AGTRAP_uc001asu.2_3'UTR|AGTRAP_uc001asw.2_Missense_Mutation_p.A132V|AGTRAP_uc001asx.2_3'UTR	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	139	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	stomach(2)	2	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGACTCAGCAGAGGCGCCC	0.607		NaN											0	0	0	0.004007	0	14	35				
EPHA8	2046	broad.mit.edu	37	1	22902808	22902808	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902808G>A	uc001bfx.1	+	3	383	c.258G>A	c.(256-258)ACG>ACA	p.T86T	EPHA8_uc001bfw.2_Silent_p.T86T	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	86	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTGCGCACGAGCTGGGTCC	0.617		NaN											0	0	0	0.01441	0	50	83				
EPHA8	2046	broad.mit.edu	37	1	22902965	22902965	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:22902965G>C	uc001bfx.1	+	3	540	c.415G>C	c.(415-417)GAA>CAA	p.E139Q	EPHA8_uc001bfw.2_Missense_Mutation_p.E139Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	139	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCACACAAGAAAGCCAGTT	0.612		NaN											0	0	0	0.011902	0	42	60				
ARID1A	8289	broad.mit.edu	37	1	27100988	27100988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27100988C>T	uc001bmv.1	+	18	4643	c.4270C>T	c.(4270-4272)CAG>TAG	p.Q1424*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1423*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1041*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q270*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1424					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTTCCCCTCAGCAAGATGT	0.622		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.006999	0	40	68				
ARID1A	8289	broad.mit.edu	37	1	27101586	27101586	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:27101586C>T	uc001bmv.1	+	18	5241	c.4868C>T	c.(4867-4869)TCG>TTG	p.S1623L	ARID1A_uc001bmt.1_Missense_Mutation_p.S1622L|ARID1A_uc001bmu.1_Missense_Mutation_p.S1406L|ARID1A_uc001bmw.1_Missense_Mutation_p.S1240L|ARID1A_uc001bmx.1_Missense_Mutation_p.S469L|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1623					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCTGCCTCGCACATAGCA	0.602		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	52	78				
FAM76A	199870	broad.mit.edu	37	1	28086093	28086093	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:28086093G>A	uc001boq.2	+	8	894	c.792G>A	c.(790-792)ATG>ATA	p.M264I	FAM76A_uc009vtb.2_Missense_Mutation_p.M264I|FAM76A_uc001bor.2_Missense_Mutation_p.M298I|FAM76A_uc001bos.2_Missense_Mutation_p.M269I|FAM76A_uc001bot.2_Missense_Mutation_p.M235I|FAM76A_uc010ofm.1_Missense_Mutation_p.M184I	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN	hypothetical protein LOC199870 isoform 3	264	Potential.										0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCAAAATGAACCAGATGG	0.413		NaN											0	0	0	0.00333	0	22	45				
LRRC41	10489	broad.mit.edu	37	1	46745288	46745288	+	Splice_Site	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:46745288T>C	uc001cpn.2	-	8	2065	c.2021_splice	c.e8-1	p.E674_splice	LRRC41_uc010omb.1_Intron	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein											ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGTAATCTCTGTCAAGAAAA	0.502		NaN											0	0	0	0.01441	0	59	115				
MCOLN3	55283	broad.mit.edu	37	1	85498432	85498432	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:85498432G>C	uc001dkp.2	-	6	772	c.679C>G	c.(679-681)CTG>GTG	p.L227V	MCOLN3_uc001dkq.2_Missense_Mutation_p.L171V|MCOLN3_uc001dkr.2_Missense_Mutation_p.L227V|MCOLN3_uc001dks.3_Missense_Mutation_p.L72V	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	227						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGTCTGCAGATTAATGGCT	0.408		NaN											0	0	0	0.01441	0	104	75				
DBT	1629	broad.mit.edu	37	1	100701034	100701034	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:100701034G>C	uc001dta.2	-	3	242	c.209C>G	c.(208-210)TCA>TGA	p.S70*	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	70	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCAATGTCTGAGAGCTTGAA	0.289		NaN											0	0	0	0.01441	0	41	87				
OLFM3	118427	broad.mit.edu	37	1	102462345	102462345	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:102462345G>C	uc001dug.2	-	1	446	c.28C>G	c.(28-30)CTC>GTC	p.L10V	OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCAGCAGGAGGTTGAGAAGG	0.433		NaN											0	0	0	0.005524	0	34	67				
TRIM46	80128	broad.mit.edu	37	1	155154488	155154488	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155154488C>T	uc001fhs.1	+	9	1832	c.1749C>T	c.(1747-1749)GGC>GGT	p.G583G	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G457G|TRIM46_uc001fhu.1_Silent_p.G560G|TRIM46_uc009wpg.1_Silent_p.G570G|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	583	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCCTGGGCGACGTGGCTG	0.562		NaN											0	0	0	0.001855	0	14	25				
SCAMP3	10067	broad.mit.edu	37	1	155230165	155230165	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155230165C>T	uc001fjs.2	-	4	597	c.344G>A	c.(343-345)CGA>CAA	p.R115Q	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjv.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjt.2_Missense_Mutation_p.R89Q	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	115	Cytoplasmic (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGCTCCCTTCGGTCCAACTC	0.582		NaN											0	0	0	0.01441	0	59	94				
ARHGEF2	9181	broad.mit.edu	37	1	155922418	155922418	+	Splice_Site	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:155922418C>A	uc001fmt.2	-	15	2102	c.1984_splice	c.e15+1	p.V662_splice	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.V634_splice|ARHGEF2_uc001fms.2_Splice_Site_p.V661_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.V706_splice	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTCCCTCACCCTCACGGAT	0.607		NaN											1	0	2.46105e-21	0.010818	2.69399e-21	30	49				
ASTN1	460	broad.mit.edu	37	1	176833476	176833476	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:176833476C>T	uc001glc.2	-	23	4041	c.3829G>A	c.(3829-3831)GAG>AAG	p.E1277K	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1285					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GTCTGCTCCTCACACGTCTTC	0.577		NaN											0	0	0	0.01441	0	74	102				
CFHR5	81494	broad.mit.edu	37	1	196965186	196965186	+	Silent	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:196965186C>A	uc001gts.3	+	6	953	c.825C>A	c.(823-825)CTC>CTA	p.L275L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	275	Sushi 5.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						TACCTGAACTCGAGTACGGTT	0.348		NaN											1	0	7.82978e-24	0.01441	8.642e-24	59	108				
CYB5R1	51706	broad.mit.edu	37	1	202936373	202936373	+	Translation_Start_Site	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:202936373G>C	uc001gyt.2	-	1	32	c.-39C>G	c.(-41--37)ATCTG>ATGTG		CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			CAAGCCGACAGATCCCACAAT	0.348		NaN											0	0	0	0.00245	0	10	20				
LYST	1130	broad.mit.edu	37	1	235973532	235973532	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:235973532G>T	uc001hxj.2	-	5	761	c.586C>A	c.(586-588)CCT>ACT	p.P196T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P196T	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	196					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGTTTAGGAAACGATGTT	0.428		NaN							Chediak-Higashi_syndrome				1	0	9.11151e-29	0.01441	1.01408e-28	87	162				
KIAA1279	26128	broad.mit.edu	37	10	70765492	70765492	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:70765492G>C	uc001joy.2	+	4	706	c.610G>C	c.(610-612)GAA>CAA	p.E204Q		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	204					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						TTACAGATTTGAAAAGGTTTA	0.209		NaN											0	0	0	0.00499	0	17	29				
PPP3CB	5532	broad.mit.edu	37	10	75239146	75239146	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:75239146C>T	uc001jue.2	-	2	350	c.215G>A	c.(214-216)AGA>AAA	p.R72K	PPP3CB_uc001juf.2_Missense_Mutation_p.R72K|PPP3CB_uc001jug.2_Missense_Mutation_p.R72K|PPP3CB_uc001jui.2_Missense_Mutation_p.R72K|PPP3CB_uc001juh.2_5'UTR	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	72	Catalytic.									skin(1)	1	Prostate(51;0.0119)					ATTGATAATTCTAAGCGCAAT	0.403		NaN											0	0	0	0.01441	0	115	226				
COMTD1	118881	broad.mit.edu	37	10	76993951	76993951	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:76993951C>T	uc001jxb.2	-	7	753	c.669G>A	c.(667-669)CCG>CCA	p.P223P	COMTD1_uc001jxc.1_Missense_Mutation_p.E315K	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing	223						integral to membrane	O-methyltransferase activity				0	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					CGTCCCCTTTCGGAGGTTGCA	0.697		NaN											0	0	0	0.010818	0	26	54				
SLC18A2	6571	broad.mit.edu	37	10	119013596	119013596	+	Silent	SNP	T	T	C	rs11568720		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:119013596T>C	uc001ldd.1	+	5	592	c.561T>C	c.(559-561)ATT>ATC	p.I187I	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	187	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCCTGCTGATTGCCAGGTCGC	0.607		NaN											0	0	0	0.01441	0	70	138				
NUP98	4928	broad.mit.edu	37	11	3704662	3704662	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:3704662C>T	uc001lyh.2	-	30	4977	c.4686G>A	c.(4684-4686)GAG>GAA	p.E1562E	NUP98_uc001lyi.2_Silent_p.E1488E|NUP98_uc001lyg.2_Silent_p.E527E	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1579					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAACAGCCTTCTCACGTATGC	0.537		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.005524	0	34	17				
SBF2	81846	broad.mit.edu	37	11	10022460	10022460	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:10022460C>T	uc001mib.2	-	8	999	c.861_splice	c.e8+1	p.L287_splice	SBF2_uc001mif.3_Splice_Site_p.L43_splice	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAATACTTACAAGTTCATGG	0.363		NaN											0	0	0	0.00333	0	24	13				
OR4A15	81328	broad.mit.edu	37	11	55136137	55136137	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:55136137G>A	uc010rif.1	+	1	778	c.778G>A	c.(778-780)GGG>AGG	p.G260R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	260	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAGTTTGGAAGGGAAACGAAA	0.428		NaN											0	0	0	0.01441	0	89	106				
OR9G9	504191	broad.mit.edu	37	11	56468004	56468004	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:56468004G>T	uc010rjn.1	+	1	141	c.141G>T	c.(139-141)TTG>TTT	p.L47F		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCATCGTGTTGATCTGTAATG	0.502		NaN											1	0	3.73148e-12	0.007291	3.95447e-12	18	99				
SLC22A8	9376	broad.mit.edu	37	11	62763286	62763286	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:62763286G>C	uc001nwo.2	-	7	1027	c.891C>G	c.(889-891)CTC>CTG	p.L297L	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.L297L|SLC22A8_uc009yom.2_Silent_p.L174L|SLC22A8_uc010rmm.1_Silent_p.L206L|SLC22A8_uc009yon.2_Silent_p.L297L	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	297	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						GGTTGAGTTTGAGCTCCTTCG	0.582		NaN											0	0	0	0.01441	0	60	98				
MEN1	4221	broad.mit.edu	37	11	64571830	64571830	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:64571830G>C	uc001obj.2	-	10	1897	c.1824C>G	c.(1822-1824)CTC>CTG	p.L608L	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.L608L|MEN1_uc001obl.2_Silent_p.L568L|MEN1_uc001obm.2_Silent_p.L603L|MEN1_uc001obn.2_Silent_p.L608L|MEN1_uc001obo.2_Silent_p.L608L|MEN1_uc001obp.2_Silent_p.L603L|MEN1_uc001obq.2_Silent_p.L608L|MEN1_uc001obr.2_Silent_p.L608L	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	608					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GCTGCCGCTTGAGGAAAGACA	0.577		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				0	0	0	0.01441	0	114	177				
GSTP1	2950	broad.mit.edu	37	11	67353963	67353963	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:67353963G>C	uc001omf.2	+	7	797	c.548G>C	c.(547-549)CGC>CCC	p.R183P	GSTP1_uc001omg.1_Missense_Mutation_p.R164P	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	183	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TATGTGGGGCGCCTCAGTGCC	0.617		NaN											0	0	0	0.00278	0	22	38				
PIWIL4	143689	broad.mit.edu	37	11	94310554	94310554	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr11:94310554A>G	uc001pfa.2	+	4	620	c.409A>G	c.(409-411)AGA>GGA	p.R137G	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	137					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTAGCATCTAGAAGGCTGAG	0.383		NaN											0	0	0	0.009096	0	4	52				
CACNA1C	775	broad.mit.edu	37	12	2602373	2602373	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:2602373G>T	uc009zdu.1	+	7	1247	c.934G>T	c.(934-936)GAC>TAC	p.D312Y	CACNA1C_uc009zdv.1_Missense_Mutation_p.D309Y|CACNA1C_uc001qkb.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkc.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qke.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkf.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qjz.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkd.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkg.2_Missense_Mutation_p.D312Y|CACNA1C_uc009zdw.1_Missense_Mutation_p.D312Y|CACNA1C_uc001qkh.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkl.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkn.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qko.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkp.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkr.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qku.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkq.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qks.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkt.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkj.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkk.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkm.1_Missense_Mutation_p.D48Y	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	312	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAGAAGATGACCCTTCCCC	0.592		NaN											1	0	2.87052e-16	0.005524	3.0665e-16	39	65				
TULP3	7289	broad.mit.edu	37	12	3000150	3000150	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:3000150G>C	uc010seh.1	+	1	118	c.37G>C	c.(37-39)GAC>CAC	p.D13H	TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D13H|TULP3_uc010sei.1_5'UTR	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	13					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCAGCGGCGACAGGTCAGA	0.711		NaN											0	0	0	0.00308	0	7	13				
GPRC5A	9052	broad.mit.edu	37	12	13062090	13062090	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:13062090G>C	uc001rba.2	+	2	1557	c.907G>C	c.(907-909)GAG>CAG	p.E303Q	GPRC5A_uc001raz.2_Missense_Mutation_p.E303Q	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	303	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CTACTCTCAAGAGGAAATCAC	0.398		NaN											0	0	0	0.003954	0	21	37				
PYROXD1	79912	broad.mit.edu	37	12	21608984	21608984	+	Silent	SNP	G	G	A	rs137912595		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:21608984G>A	uc001rew.2	+	7	832	c.705G>A	c.(703-705)TTG>TTA	p.L235L	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	235							oxidoreductase activity			ovary(1)	1						GAAGTGCATTGGGACCAGATT	0.308		NaN											0	0	0	0.01441	0	43	64				
SLC38A2	54407	broad.mit.edu	37	12	46757598	46757598	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:46757598C>A	uc001rpg.2	-	12	1405	c.965G>T	c.(964-966)AGA>ATA	p.R322I	SLC38A2_uc010sli.1_Missense_Mutation_p.R160I|SLC38A2_uc001rph.2_Missense_Mutation_p.R222I	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	322	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATCATTCTTCTACGGCTGCG	0.338		NaN											1	0	1.33986e-20	0.004656	1.46067e-20	25	56				
ASB8	140461	broad.mit.edu	37	12	48547243	48547243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48547243G>A	uc001rrh.2	-	2	206	c.37C>T	c.(37-39)CAG>TAG	p.Q13*	ASB8_uc010slr.1_Nonsense_Mutation_p.Q9*	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	13					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						TATTTGCTCTGAATGCTCTGC	0.448		NaN											0	0	0	0.01441	0	55	81				
ZNF641	121274	broad.mit.edu	37	12	48736909	48736909	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:48736909C>T	uc001rrn.1	-	6	1329	c.1164G>A	c.(1162-1164)GTG>GTA	p.V388V	ZNF641_uc001rro.1_Silent_p.V374V|ZNF641_uc010sls.1_Silent_p.V365V	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	388	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						GCCAGTGTCTCACAAGGTGGT	0.597		NaN											0	0	0	0.00499	0	14	179				
GPD1	2819	broad.mit.edu	37	12	50500080	50500080	+	Missense_Mutation	SNP	G	G	A	rs34783513	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:50500080G>A	uc001rvz.2	+	4	403	c.370G>A	c.(370-372)GAG>AAG	p.E124K	GPD1_uc001rwa.2_Missense_Mutation_p.E101K	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	124					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGGGGTAGACGAGGGCCCCAA	0.622		NaN											0	0	0	0.004672	0	3	31				
KRT2	3849	broad.mit.edu	37	12	53045870	53045870	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:53045870G>A	uc001sat.2	-	1	90	c.57C>T	c.(55-57)TTC>TTT	p.F19F		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	19	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGAAGCCCCGGAAtcctcctc	0.498		NaN											0	0	0	0.000602	0	5	9				
ERBB3	2065	broad.mit.edu	37	12	56487277	56487277	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:56487277C>T	uc001sjh.2	+	12	1616	c.1423C>T	c.(1423-1425)CGG>TGG	p.R475W	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R416W|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R43W	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	475	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAGGTGCTTCGGGGGCCTAC	0.547		NaN											0	0	0	0.01441	0	91	61				
TMEM194A	23306	broad.mit.edu	37	12	57472424	57472425	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:57472424_57472425GG>AA	uc001smy.2	-	1	150_151	c.104_105CC>TT	c.(103-105)TCC>TTT	p.S35F	TMEM194A_uc001smx.2_Missense_Mutation_p.S35F|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	35	Helical; (Potential).					integral to membrane					0						CCAAGCAGCCGGAGAGGATCAA	0.673		NaN											0	0	0	0.004672	0	57	181				
LEMD3	23592	broad.mit.edu	37	12	65564407	65564407	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65564407G>T	uc001ssl.1	+	1	1037	c.1031G>T	c.(1030-1032)GGA>GTA	p.G344V	LEMD3_uc009zqo.1_Missense_Mutation_p.G344V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	344					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GAGCAGGGAGGAGGGTGTGAT	0.627		NaN											1	0	2.32416e-17	0.014323	2.50294e-17	22	71				
TRHDE	29953	broad.mit.edu	37	12	73012710	73012710	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:73012710C>T	uc001sxa.2	+	13	2256	c.2226C>T	c.(2224-2226)ATC>ATT	p.I742I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	742	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TGGAGATTATCAGATACCTGT	0.398		NaN											0	0	0	0.007291	0	29	62				
KRR1	11103	broad.mit.edu	37	12	75905329	75905329	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:75905329C>T	uc001sxt.2	-	1	90	c.49G>A	c.(49-51)GAA>AAA	p.E17K	KRR1_uc009zsc.2_Missense_Mutation_p.E17K|KRR1_uc010stx.1_Missense_Mutation_p.E17K	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	17					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						TTACGAAATTCACTTTTTCCA	0.502		NaN											0	0	0	0.01441	0	46	100				
SLC17A8	246213	broad.mit.edu	37	12	100797869	100797869	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:100797869T>C	uc010svi.1	+	9	1420	c.1107T>C	c.(1105-1107)ATT>ATC	p.I369I	SLC17A8_uc009ztx.2_Silent_p.I319I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	369	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TTGTACCTATTGGAGGACAAT	0.403		NaN											0	0	0	0.012213	0	31	67				
MED13L	23389	broad.mit.edu	37	12	116403955	116403955	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:116403955C>G	uc001tvw.2	-	29	6374	c.6319G>C	c.(6319-6321)GAG>CAG	p.E2107Q		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAAGATTCTCAGCTTTGGCA	0.488		NaN											0	0	0	0.01441	0	75	135				
BRCA2	675	broad.mit.edu	37	13	32912514	32912514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:32912514C>G	uc001uub.1	+	11	4249	c.4022C>G	c.(4021-4023)TCA>TGA	p.S1341*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1341					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCAGTGATTCAAGTAAAAAT	0.303		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.00333	0	25	46				
CAB39L	81617	broad.mit.edu	37	13	49933858	49933858	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:49933858G>A	uc001vcw.2	-	4	885	c.387C>T	c.(385-387)CTC>CTT	p.L129L	CAB39L_uc001vcx.2_Silent_p.L129L|CAB39L_uc010adf.2_Silent_p.L126L	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	129					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ACCCTTTGAGGAGCATAAACA	0.393		NaN											0	0	0	0.013726	0	30	79				
KLHL1	57626	broad.mit.edu	37	13	70681661	70681661	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:70681661G>C	uc001vip.2	-	1	965	c.171C>G	c.(169-171)CTC>CTG	p.L57L	KLHL1_uc010thm.1_Silent_p.L57L|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	57	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTGGCTTTTGAGCAGGCGAC	0.473		NaN											0	0	0	0.01441	0	49	92				
DACH1	1602	broad.mit.edu	37	13	72146982	72146982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:72146982G>C	uc010thn.1	-	5	1712	c.1289C>G	c.(1288-1290)TCA>TGA	p.S430*	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	482					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTAATAACTGATGTCTCAAC	0.398		NaN											0	0	0	0.010771	0	42	83				
SLITRK5	26050	broad.mit.edu	37	13	88329086	88329086	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:88329086G>A	uc001vln.2	+	2	1662	c.1443G>A	c.(1441-1443)CAG>CAA	p.Q481Q	SLITRK5_uc010tic.1_Silent_p.Q240Q	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	481	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGGCCTGCAGAGCCTGCAGT	0.537		NaN											0	0	0	0.01441	0	49	70				
GPC5	2262	broad.mit.edu	37	13	92797155	92797155	+	Missense_Mutation	SNP	G	G	A	rs143874024		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:92797155G>A	uc010tif.1	+	7	1840	c.1474G>A	c.(1474-1476)GAA>AAA	p.E492K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	492						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGCATGGTTGAACAAGTCAG	0.468		NaN											0	0	0	0.01441	0	48	91				
FAM70B	348013	broad.mit.edu	37	13	114498181	114498181	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr13:114498181G>A	uc001vuh.2	+	4	340	c.313G>A	c.(313-315)GTG>ATG	p.V105M		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	105	Helical; (Potential).					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CTGCGCCATCGTGGACGGCGT	0.527		NaN											0	0	0	0.01441	0	52	57				
MIA2	117153	broad.mit.edu	37	14	39717074	39717074	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:39717074T>C	uc001wux.2	+	4	1490	c.1296T>C	c.(1294-1296)ATT>ATC	p.I432I	MIA2_uc010amy.1_Silent_p.I363I	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	432						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CGATAAAAATTATAGAAACAG	0.318		NaN											0	0	0	0.01441	0	54	74				
ARID4A	5926	broad.mit.edu	37	14	58831658	58831658	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:58831658C>G	uc001xdp.2	+	20	3105	c.2851C>G	c.(2851-2853)CTG>GTG	p.L951V	ARID4A_uc001xdo.2_Missense_Mutation_p.L951V|ARID4A_uc001xdq.2_Missense_Mutation_p.L951V|ARID4A_uc010apg.1_Missense_Mutation_p.L629V	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	951	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TGCAATGCCTCTGATCGGGCC	0.408		NaN											0	0	0	0.01441	0	57	125				
SNAPC1	6617	broad.mit.edu	37	14	62244847	62244847	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:62244847C>G	uc001xft.2	+	6	855	c.751C>G	c.(751-753)CAA>GAA	p.Q251E		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	251	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGGAAATTCACAAGAAACGGA	0.294		NaN											0	0	0	0.010504	0	18	48				
VTI1B	10490	broad.mit.edu	37	14	68123177	68123177	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:68123177C>T	uc001xjt.2	-	4	892	c.496G>A	c.(496-498)GAG>AAG	p.E166K	VTI1B_uc010aqp.2_Missense_Mutation_p.E105K|VTI1B_uc001xju.2_Missense_Mutation_p.E125K	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	166	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCCCCCAGCTCTTCTATGATT	0.522		NaN											0	0	0	0.01441	0	86	168				
CATSPERB	79820	broad.mit.edu	37	14	92074642	92074642	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074642G>A	uc001xzs.1	-	22	2845	c.2705C>T	c.(2704-2706)TCA>TTA	p.S902L	CATSPERB_uc010aub.1_Missense_Mutation_p.S424L	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	902					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATTTACCTTTGACATGTGAAA	0.308		NaN											0	0	0	0.009535	0	27	51				
CATSPERB	79820	broad.mit.edu	37	14	92074649	92074649	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:92074649G>A	uc001xzs.1	-	22	2838	c.2698C>T	c.(2698-2700)CAC>TAC	p.H900Y	CATSPERB_uc010aub.1_Missense_Mutation_p.H422Y	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	900					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTGACATGTGAAACATGTTT	0.299		NaN											0	0	0	0.013726	0	29	54				
KIAA1409	57578	broad.mit.edu	37	14	94155051	94155051	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94155051C>A	uc001ybv.1	+	43	6685	c.6602C>A	c.(6601-6603)ACC>AAC	p.T2201N	KIAA1409_uc001ybs.1_Missense_Mutation_p.T2179N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2356						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CATGAAGATACCTTTGGGGGA	0.502		NaN											1	0	1.60099e-16	0.004878	1.71719e-16	38	69				
PPP4R4	57718	broad.mit.edu	37	14	94711948	94711948	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr14:94711948C>T	uc001ycs.1	+	13	1523	c.1369C>T	c.(1369-1371)CTT>TTT	p.L457F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	457						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						TATAGATCATCTTCCAGAAAT	0.308		NaN											0	0	0	0.01441	0	66	90				
OCA2	4948	broad.mit.edu	37	15	28231760	28231760	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:28231760C>T	uc001zbh.3	-	12	1322	c.1212G>A	c.(1210-1212)ACG>ACA	p.T404T	OCA2_uc010ayv.2_Silent_p.T380T	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	404	Cytoplasmic (Potential).		T -> M (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGAAAAATCCCGTTTCTGAAA	0.303		NaN							Oculocutaneous_Albinism				0	0	0	0.01441	0	67	132				
MTMR15	22909	broad.mit.edu	37	15	31197051	31197051	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:31197051A>G	uc001zff.2	+	2	476	c.185A>G	c.(184-186)GAA>GGA	p.E62G	MTMR15_uc001zfc.3_Missense_Mutation_p.E62G|MTMR15_uc010azw.2_Missense_Mutation_p.E62G|MTMR15_uc001zfd.3_Missense_Mutation_p.E62G|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	62	UBZ-type.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CACCTTGATGAAATGTGTGCT	0.403		NaN						Direct_reversal_of_damage|Editing_and_processing_nucleases					0	0	0	0.00499	0	17	60				
RYR3	6263	broad.mit.edu	37	15	33795931	33795931	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:33795931G>A	uc001zhi.2	+	3	341	c.271G>A	c.(271-273)GGC>AGC	p.G91S	RYR3_uc010bar.2_Missense_Mutation_p.G91S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	91	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAATGGCGGCGAAGGGGT	0.483		NaN											0	0	0	0.001168	0	4	15				
BUB1B	701	broad.mit.edu	37	15	40488917	40488917	+	Missense_Mutation	SNP	C	C	G	rs61733369	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:40488917C>G	uc001zkx.3	+	9	1442	c.1230C>G	c.(1228-1230)TTC>TTG	p.F410L	BUB1B_uc010ucl.1_Missense_Mutation_p.F273L	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	410					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TAGGGGAATTCTCCTTTGAAG	0.408		NaN	Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				0	0	0	0.01441	0	51	94				
SLC27A2	11001	broad.mit.edu	37	15	50519375	50519375	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:50519375G>A	uc001zxw.2	+	7	1689	c.1457G>A	c.(1456-1458)CGG>CAG	p.R486Q	SLC27A2_uc010bes.2_Missense_Mutation_p.R433Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.R251Q	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	486	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GATACATTCCGGTTGGTTTTT	0.403		NaN											0	0	0	0.010818	0	30	58				
CPLX3	594855	broad.mit.edu	37	15	75122674	75122674	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:75122674T>C	uc002ayu.1	+	3	550	c.456T>C	c.(454-456)GCT>GCC	p.A152A		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	complexin 3 precursor	152						cell junction|synapse	syntaxin binding				0						AGCAATCAGCTGAGAAGTGTC	0.602		NaN											0	0	0	0.00245	0	14	29				
RLBP1	6017	broad.mit.edu	37	15	89760379	89760379	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr15:89760379G>A	uc002bnl.2	-	5	698	c.318C>T	c.(316-318)AAC>AAT	p.N106N		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	106					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACGGCCCACGTTGAACTTCC	0.657		NaN											0	0	0	0.008871	0	18	41				
SETD1A	9739	broad.mit.edu	37	16	30995215	30995215	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:30995215G>A	uc002ead.1	+	19	5681	c.4995G>A	c.(4993-4995)AAG>AAA	p.K1665K	HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1665	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CCCAGAAGAAGATCGTGATCT	0.582		NaN											0	0	0	0.010729	0	11	14				
ABCC12	94160	broad.mit.edu	37	16	48138177	48138177	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:48138177G>A	uc002efc.1	-	20	3122	c.2776C>T	c.(2776-2778)CAC>TAC	p.H926Y	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	926	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTCTGCGTGAAACGGCAGC	0.488		NaN											0	0	0	0.01441	0	83	160				
CA5A	763	broad.mit.edu	37	16	87921738	87921738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr16:87921738G>A	uc002fkn.1	-	7	971	c.915C>T	c.(913-915)TCC>TCT	p.S305S		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	305					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AATGTCTCTAGGACCTTGTGC	0.458		NaN											0	0	0	0.01441	0	41	66				
TRPV3	162514	broad.mit.edu	37	17	3432259	3432259	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:3432259G>A	uc002fvt.1	-	10	1595	c.1273C>T	c.(1273-1275)CTG>TTG	p.L425L	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.L409L|TRPV3_uc010vri.1_Silent_p.L380L|TRPV3_uc010vrj.1_Silent_p.L409L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.L409L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.L425L|TRPV3_uc002fvu.2_Silent_p.L425L|TRPV3_uc010vrn.1_Silent_p.L7L	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	425	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	AGCGTGTGCAGCGGCTCCAGG	0.517		NaN											0	0	0	0.01441	0	111	164				
WDR16	146845	broad.mit.edu	37	17	9545099	9545099	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:9545099C>T	uc002gly.2	+	13	1703	c.1634C>T	c.(1633-1635)TCT>TTT	p.S545F	WDR16_uc002glz.2_Missense_Mutation_p.S477F|WDR16_uc010coc.2_Missense_Mutation_p.S555F	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	545	WD 10.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGTTCCCTGTCTGGGTCGATA	0.463		NaN											0	0	0	0.013114	0	38	25				
MYH13	8735	broad.mit.edu	37	17	10231294	10231294	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:10231294A>G	uc002gmk.1	-	22	2670	c.2580T>C	c.(2578-2580)TTT>TTC	p.F860F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	860	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGGTCCTCTCAAAGTCTTCCT	0.547		NaN									OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00623	0	37	20				
LRRC37B	114659	broad.mit.edu	37	17	30358451	30358451	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:30358451G>C	uc002hgu.2	+	5	1961	c.1950G>C	c.(1948-1950)TGG>TGC	p.W650C	LRRC37B_uc010wbx.1_Missense_Mutation_p.W568C|LRRC37B_uc010csu.2_Intron	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	650	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTCAGGCCTGGCACGGAATGC	0.328		NaN											0	0	0	0.00333	0	16	145				
ZNF830	91603	broad.mit.edu	37	17	33289624	33289624	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:33289624G>C	uc002hih.3	+	1	1076	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	347	Potential.				cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				AAAGGAAGAAGAGAATGCTGA	0.423		NaN											0	0	0	0.01441	0	104	68				
MMP28	79148	broad.mit.edu	37	17	34094869	34094869	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:34094869G>C	uc002hjy.1	-	9	1329	c.1070C>G	c.(1069-1071)TCA>TGA	p.S357*	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	357	Hemopexin-like 1.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACGGGGCTCTGAGACGTTGCC	0.527		NaN											0	0	0	0.007413	0	15	26				
CDK12	51755	broad.mit.edu	37	17	37687065	37687065	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:37687065G>C	uc010cvv.2	+	14	4555	c.3969G>C	c.(3967-3969)TTG>TTC	p.L1323F	CDK12_uc002hrw.3_Missense_Mutation_p.L1314F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1323					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ACCAGGCCTTGAGACCAATGG	0.562		NaN								TCGA Ovarian(9;0.13)			0	0	0	0.01441	0	101	96				
MED24	9862	broad.mit.edu	37	17	38209839	38209839	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:38209839T>C	uc002htt.2	-	2	326	c.13A>G	c.(13-15)AAC>GAC	p.N5D	MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.N30D|MED24_uc002htu.2_Missense_Mutation_p.N5D|MED24_uc010cwn.2_Missense_Mutation_p.N5D|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.N30D|MED24_uc010wfc.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	5					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					TGCTTCAGGTTGACCACCTTC	0.488		NaN											0	0	0	0.01441	0	68	184				
KRT15	3866	broad.mit.edu	37	17	39674601	39674601	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:39674601A>G	uc002hwy.2	-	1	670	c.479T>C	c.(478-480)ATT>ACT	p.I160T	KRT15_uc002hwz.2_Silent_p.L23L|KRT15_uc002hxa.2_Silent_p.L23L|KRT15_uc002hxb.1_Silent_p.L23L	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	160	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				GAGCTCTTCAATGGTCTTGAA	0.537		NaN											0	0	0	0.01441	0	82	81				
STAT5B	6777	broad.mit.edu	37	17	40379652	40379652	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:40379652G>C	uc002hzh.2	-	3	349	c.180C>G	c.(178-180)CTC>CTG	p.L60L	STAT5B_uc002hzi.3_Silent_p.L60L	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	60					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCCTCCAGGAGCTGGGTGG	0.502		NaN											0	0	0	0.01441	0	47	35				
SCN4A	6329	broad.mit.edu	37	17	62029011	62029011	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:62029011C>T	uc002jds.1	-	14	2703	c.2626G>A	c.(2626-2628)GAG>AAG	p.E876K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	876					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTCTCATCCTCGGGGGCAGTC	0.657		NaN											0	0	0	0.009096	0	4	13				
TIMP2	7077	broad.mit.edu	37	17	76866987	76866987	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:76866987G>A	uc002jwf.2	-	3	635	c.333C>T	c.(331-333)CTC>CTT	p.L111L	TIMP2_uc002jwe.2_Silent_p.L34L|TIMP2_uc010wty.1_Silent_p.L34L	NM_003255	NP_003246	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2 precursor	111	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CACCTGCAATGAGATATTCCT	0.582		NaN											0	0	0	0.01441	0	90	103				
PYCR1	5831	broad.mit.edu	37	17	79891201	79891201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr17:79891201C>T	uc002kcr.1	-	7	1127	c.849G>A	c.(847-849)AAG>AAA	p.K283K	PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Silent_p.K283K|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Silent_p.K310K|PYCR1_uc002kct.1_Silent_p.K283K|PYCR1_uc002kcu.1_Silent_p.K252K	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	283					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GGATGGTCTTCTTGATGGCGG	0.642		NaN											0	0	0	0.00333	0	22	54				
PIK3C3	5289	broad.mit.edu	37	18	39584344	39584344	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr18:39584344G>A	uc002lap.2	+	10	1067	c.1009G>A	c.(1009-1011)GTT>ATT	p.V337I	PIK3C3_uc010xcl.1_Missense_Mutation_p.V274I	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	337				FLKCVN -> ILTSVI (in Ref. 1; CAA87094).	cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						CTTGAAATGTGTTAATTGGGA	0.413		NaN								TSP Lung(28;0.18)			0	0	0	0.01441	0	44	15				
PRKCSH	5589	broad.mit.edu	37	19	11559788	11559788	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:11559788C>T	uc002mrt.2	+	15	1661	c.1325C>T	c.(1324-1326)TCT>TTT	p.S442F	PRKCSH_uc002mru.2_Missense_Mutation_p.S439F|PRKCSH_uc010xlz.1_Missense_Mutation_p.S449F|PRKCSH_uc010dya.2_Missense_Mutation_p.S224F|PRKCSH_uc010dyb.2_Missense_Mutation_p.S439F	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	442	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CTCGGGGGCTCTCCCACCAGC	0.642		NaN											0	0	0	0.01441	0	77	145				
CYP4F11	57834	broad.mit.edu	37	19	16045054	16045054	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16045054C>T	uc002nbu.2	-	2	201	c.165G>A	c.(163-165)CCG>CCA	p.P55P	CYP4F11_uc010eab.1_Silent_p.P55P|CYP4F11_uc002nbt.2_Silent_p.P55P	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	55					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGTTCTGTTTCGGGGGTTGAG	0.612		NaN											0	0	0	0.006999	0	34	70				
SIN3B	23309	broad.mit.edu	37	19	16982110	16982110	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:16982110C>T	uc002ney.1	+	15	2603	c.2589C>T	c.(2587-2589)ATC>ATT	p.I863I	SIN3B_uc002nez.1_Silent_p.I831I|SIN3B_uc010xpi.1_Silent_p.I421I	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	863					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						AGGGCAGCATCGACCCCACGC	0.612		NaN											0	0	0	0.01441	0	48	65				
RFXANK	8625	broad.mit.edu	37	19	19308943	19308943	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19308943G>C	uc002nls.2	+	7	971	c.466G>C	c.(466-468)GAG>CAG	p.E156Q	RFXANK_uc002nlt.2_Missense_Mutation_p.E133Q|RFXANK_uc002nlu.2_Missense_Mutation_p.E134Q|RFXANK_uc002nlv.2_Missense_Mutation_p.E156Q|RFXANK_uc002nlw.2_Missense_Mutation_p.E155Q	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	156	ANK 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			CCTGGCAAAAGAGCGAGAGAG	0.597		NaN											0	0	0	0.01441	0	74	165				
NR2C2AP	126382	broad.mit.edu	37	19	19313302	19313302	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19313302G>C	uc002nlx.2	-	3	581	c.212C>G	c.(211-213)TCC>TGC	p.S71C	NR2C2AP_uc010xqq.1_5'Flank|NR2C2AP_uc002nly.2_Missense_Mutation_p.S71C	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	TR4 orphan receptor associated protein TRA16	71					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				ovary(1)	1			Epithelial(12;0.00235)			CCGGCGACTGGAGAAGCCACC	0.617		NaN											0	0	0	0.00278	0	22	68				
ZNF14	7561	broad.mit.edu	37	19	19822176	19822176	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:19822176C>T	uc002nnk.1	-	4	2068	c.1914G>A	c.(1912-1914)ATG>ATA	p.M638I		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				CTTTCTCTCCCATATGAGTCC	0.413		NaN											0	0	0	0.003271	0	32	69				
GPI	2821	broad.mit.edu	37	19	34884827	34884827	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34884827C>G	uc002nvg.1	+	12	1021	c.918C>G	c.(916-918)CAC>CAG	p.H306Q	GPI_uc002nvf.2_Missense_Mutation_p.H345Q|GPI_uc010xrv.1_Missense_Mutation_p.H317Q|GPI_uc010xrw.1_Missense_Mutation_p.H278Q|GPI_uc010edl.1_Missense_Mutation_p.H306Q|GPI_uc002nvi.1_5'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	306					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					AGGACCAGCACTTCCGCACGA	0.627		NaN											0	0	0	0.01441	0	106	454				
UBA2	10054	broad.mit.edu	37	19	34949727	34949727	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:34949727A>G	uc002nvk.2	+	13	1369	c.1299A>G	c.(1297-1299)GCA>GCG	p.A433A	UBA2_uc010xrx.1_Silent_p.A306A|UBA2_uc002nvl.2_Silent_p.A337A	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	433					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCCTTGTGCACTGGATCCTC	0.433		NaN											0	0	0	0.01441	0	164	106				
ZNF546	339327	broad.mit.edu	37	19	40521413	40521413	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:40521413G>A	uc002oms.2	+	7	2492	c.2236G>A	c.(2236-2238)GAG>AAG	p.E746K	ZNF546_uc002omt.2_Missense_Mutation_p.E720K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATACTGGTGAGAAACCTTA	0.398		NaN											0	0	0	0.01441	0	150	79				
ZFP112	7771	broad.mit.edu	37	19	44833549	44833549	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:44833549C>T	uc010ejj.2	-	5	892	c.779G>A	c.(778-780)TGT>TAT	p.C260Y	ZFP112_uc002ozc.3_Missense_Mutation_p.C254Y|ZFP112_uc010xwy.1_Missense_Mutation_p.C277Y|ZFP112_uc010xwz.1_Missense_Mutation_p.C259Y	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	260	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						ATACCCAGTACATGGATAGGG	0.423		NaN											0	0	0	0.010771	0	44	243				
PNMAL2	57469	broad.mit.edu	37	19	46998590	46998590	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998590G>A	uc002pes.2	-	1	580	c.133C>T	c.(133-135)CCC>TCC	p.P45S	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	45										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gtgcccaggggcaggagggtc	0		NaN											0	0	0	0.00874	0	39	168				
PNMAL2	57469	broad.mit.edu	37	19	46998594	46998594	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:46998594G>A	uc002pes.2	-	1	576	c.129C>T	c.(127-129)CTC>CTT	p.L43L	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	43										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaggggcaggagggtcggct	0		NaN											0	0	0	0.007835	0	38	165				
ZNF347	84671	broad.mit.edu	37	19	53644201	53644201	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:53644201T>A	uc002qbb.1	-	5	1949	c.1880A>T	c.(1879-1881)TAT>TTT	p.Y627F	ZNF347_uc010eql.1_Missense_Mutation_p.Y628F|ZNF347_uc002qbc.1_Missense_Mutation_p.Y628F	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	627	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		ATACTCATTATACTTGTAAGG	0.378		NaN											0	0	0	0.01441	0	198	114				
ZNF134	7693	broad.mit.edu	37	19	58131830	58131830	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr19:58131830A>G	uc002qpn.2	+	3	442	c.343A>G	c.(343-345)ATT>GTT	p.I115V	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	115						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGAGGCCTCAATTGTGAAGAA	0.463		NaN											0	0	0	0.01441	0	94	63				
APOB	338	broad.mit.edu	37	2	21233836	21233836	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:21233836G>A	uc002red.2	-	26	6032	c.5904C>T	c.(5902-5904)GTC>GTT	p.V1968V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1968					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCAGGGCACTGACTTTGTGTT	0.453		NaN											0	0	0	0.01441	0	56	105				
OTOF	9381	broad.mit.edu	37	2	26717812	26717812	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:26717812C>T	uc002rhk.2	-	9	1022	c.895G>A	c.(895-897)GAG>AAG	p.E299K		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	299	Cytoplasmic (Potential).|C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTGACCTCGTTGTAATAG	0.572		NaN											0	0	0	0.009535	0	30	82				
AGBL5	60509	broad.mit.edu	37	2	27276416	27276416	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:27276416G>A	uc002rie.2	+	3	579	c.362G>A	c.(361-363)CGC>CAC	p.R121H	AGBL5_uc002ric.2_Missense_Mutation_p.R121H|AGBL5_uc002rid.2_Missense_Mutation_p.R121H|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGGGAACGCATTCGAGAC	0.498		NaN											0	0	0	0.006999	0	35	109				
CDC42EP3	10602	broad.mit.edu	37	2	37873446	37873446	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:37873446G>A	uc002rqi.1	-	2	1278	c.285C>T	c.(283-285)TTC>TTT	p.F95F		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	95					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				GCGTTTCTGTGAACACAGAGT	0.532		NaN											0	0	0	0.01441	0	59	128				
OXER1	165140	broad.mit.edu	37	2	42990228	42990228	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:42990228G>A	uc002rss.2	-	1	1174	c.1092C>T	c.(1090-1092)CAC>CAT	p.H364H		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	364	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						CCCGGCTCTGGTGGAGGAAGT	0.657		NaN											0	0	0	0.003271	0	31	39				
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808503	48808503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:48808503C>A	uc010yol.1	+	1	778	c.731C>A	c.(730-732)TCA>TAA	p.S244*	STON1_uc002rwo.3_Nonsense_Mutation_p.S244*|STON1_uc010fbm.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.S244*|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Nonsense_Mutation_p.S244*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	244					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCAAGACTCACTTAGAAGT	0.433		NaN											1	0	3.07002e-29	0.01441	3.43119e-29	51	80				
UGP2	7360	broad.mit.edu	37	2	64114602	64114602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:64114602G>T	uc002scm.2	+	8	1444	c.1138G>T	c.(1138-1140)GAG>TAG	p.E380*	UGP2_uc002scl.2_Nonsense_Mutation_p.E369*|UGP2_uc010ypx.1_Nonsense_Mutation_p.E389*	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	380					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						CAAAAGTTTTGAGAATTCTCT	0.423		NaN											1	0	6.84511e-11	0.003271	7.1685e-11	36	79				
SPRED2	200734	broad.mit.edu	37	2	65571896	65571896	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:65571896C>T	uc002sdr.3	-	2	696	c.161G>A	c.(160-162)CGA>CAA	p.R54Q	SPRED2_uc010fcw.2_Missense_Mutation_p.R51Q|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	54	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						AAAGCCGCTTCGTCCATTGCC	0.512		NaN											0	0	0	0.003163	0	14	22				
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:160006935G>A	uc002uag.2	+	7	824	c.550G>A	c.(550-552)GCA>ACA	p.A184T	TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.A183T|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGCAGCACCGCATCTCCTAG	0.527		NaN											0	0	0	0.007291	0	26	51				
TLK1	9874	broad.mit.edu	37	2	172016855	172016855	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:172016855C>T	uc002ugn.2	-	1	556	c.84G>A	c.(82-84)GCG>GCA	p.A28A	TLK1_uc002ugo.2_Silent_p.A28A|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_RNA	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	28					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TGGCCGCCGCCGCCGAGCCCG	0.507		NaN											0	0	0	0.009096	0	4	50				
COL3A1	1281	broad.mit.edu	37	2	189876410	189876410	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:189876410G>C	uc002uqj.1	+	51	4428	c.4311G>C	c.(4309-4311)GTG>GTC	p.V1437V		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1437	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAAGGCTGTGAGACTACCTA	0.393		NaN											0	0	0	0.005524	0	36	83				
ZDBF2	57683	broad.mit.edu	37	2	207171761	207171761	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:207171761C>G	uc002vbp.2	+	5	2759	c.2509C>G	c.(2509-2511)CTT>GTT	p.L837V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	837							nucleic acid binding|zinc ion binding			ovary(3)	3						TGATATTCCTCTTCATTCAGG	0.358		NaN											0	0	0	0.008361	0	29	46				
DOCK10	55619	broad.mit.edu	37	2	225796298	225796298	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:225796298C>G	uc010fwz.1	-	2	450	c.211G>C	c.(211-213)GAT>CAT	p.D71H	DOCK10_uc002vob.2_Missense_Mutation_p.D65H|DOCK10_uc002vod.1_Missense_Mutation_p.D71H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	71							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AACAAGAGATCTTGAAGAGGA	0.428		NaN											0	0	0	0.00308	0	7	18				
COL6A3	1293	broad.mit.edu	37	2	238305397	238305397	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:238305397T>C	uc002vwl.2	-	2	349	c.64A>G	c.(64-66)ACA>GCA	p.T22A	COL6A3_uc002vwo.2_Missense_Mutation_p.T22A|COL6A3_uc010znj.1_Missense_Mutation_p.T22A|COL6A3_uc002vwq.2_Missense_Mutation_p.T22A|COL6A3_uc002vwr.2_Missense_Mutation_p.T22A|COL6A3_uc010znk.1_Missense_Mutation_p.T22A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	22					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATGAGTTGTAGGAAAGCCT	0.418		NaN											0	0	0	0.01441	0	54	89				
ANKMY1	51281	broad.mit.edu	37	2	241421610	241421610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:241421610C>A	uc002vyz.1	-	15	2837	c.2608G>T	c.(2608-2610)GAG>TAG	p.E870*	ANKMY1_uc002vza.1_Nonsense_Mutation_p.E646*|ANKMY1_uc010fzd.1_Nonsense_Mutation_p.E959*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E631*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E649*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E693*	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	870							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGCCCCTGCTCCTTCACATCC	0.612		NaN											1	0	1.30998e-17	0.005524	1.41649e-17	34	70				
PASK	23178	broad.mit.edu	37	2	242082263	242082263	+	Missense_Mutation	SNP	G	G	A	rs144572631		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr2:242082263G>A	uc002wao.1	-	2	277	c.185C>T	c.(184-186)ACA>ATA	p.T62I	PASK_uc010zol.1_Nonsense_Mutation_p.Q11*|PASK_uc010zom.1_Missense_Mutation_p.T62I|PASK_uc010fzl.1_Missense_Mutation_p.T62I|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.T62I	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	62					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGAGCGCTGTCCTGCTCTG	0.562		NaN											0	0	0	0.009096	0	4	50				
PAK7	57144	broad.mit.edu	37	20	9561367	9561367	+	Missense_Mutation	SNP	C	C	A	rs144997856		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:9561367C>A	uc002wnl.2	-	5	960	c.415G>T	c.(415-417)GCT>TCT	p.A139S	PAK7_uc002wnk.2_Missense_Mutation_p.A139S|PAK7_uc002wnj.2_Missense_Mutation_p.A139S|PAK7_uc010gby.1_Missense_Mutation_p.A139S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	139	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GTGTAGTCAGCAGTAGTATCG	0.537		NaN											1	0	4.68919e-08	0.008291	4.87236e-08	10	183				
SSTR4	6754	broad.mit.edu	37	20	23017195	23017195	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:23017195T>G	uc002wsr.2	+	1	1139	c.1075T>G	c.(1075-1077)TGC>GGC	p.C359G		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	359	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGGGCAGGGTGCATGTGCCC	0.652		NaN											0	0	0	0.013114	0	40	28				
HCK	3055	broad.mit.edu	37	20	30676371	30676371	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:30676371G>T	uc002wxh.2	+	10	1187	c.1016G>T	c.(1015-1017)GGA>GTA	p.G339V	HCK_uc010gdy.2_Missense_Mutation_p.G318V|HCK_uc002wxi.2_Missense_Mutation_p.G317V	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	339	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCATATAGGAAGCTTGCTG	0.378		NaN											1	0	6.38683e-12	0.008361	6.74166e-12	29	99				
RBM39	9584	broad.mit.edu	37	20	34312571	34312571	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:34312571T>C	uc002xeb.2	-	8	952	c.608A>G	c.(607-609)GAT>GGT	p.D203G	RBM39_uc002xdz.2_Missense_Mutation_p.D179G|RBM39_uc002xea.2_Missense_Mutation_p.D46G|RBM39_uc010gfn.2_Missense_Mutation_p.D46G|RBM39_uc010zvm.1_Missense_Mutation_p.D181G|RBM39_uc002xeg.2_Missense_Mutation_p.D181G|RBM39_uc002xec.2_Missense_Mutation_p.D203G|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.D46G|RBM39_uc002xef.2_Missense_Mutation_p.D46G|RBM39_uc010zvn.1_Missense_Mutation_p.D46G	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	203	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGAGCTAACATCGACGAACTC	0.413		NaN											0	0	0	0.01441	0	73	184				
DLGAP4	22839	broad.mit.edu	37	20	35060846	35060846	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:35060846C>A	uc002xff.2	+	3	1161	c.726C>A	c.(724-726)TTC>TTA	p.F242L	DLGAP4_uc010zvp.1_Missense_Mutation_p.F242L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	242					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CACGCTACTTCATGCACGCCT	0.637		NaN											1	0	2.77807e-22	0.013114	3.05358e-22	41	125				
SLC12A5	57468	broad.mit.edu	37	20	44669042	44669042	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:44669042A>G	uc010zxl.1	+	7	788	c.712A>G	c.(712-714)AAG>GAG	p.K238E	SLC12A5_uc002xra.2_Missense_Mutation_p.K215E|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.K215E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	238	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCATCTTCAAGGCAGAAGA	0.547		NaN											0	0	0	0.01441	0	91	282				
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:45216772G>C	uc002xsf.1	-	8	1085	c.1047C>G	c.(1045-1047)TTC>TTG	p.F349L	SLC13A3_uc010ghn.1_Missense_Mutation_p.F318L|SLC13A3_uc010zxw.1_Missense_Mutation_p.F299L|SLC13A3_uc002xsg.1_Missense_Mutation_p.F302L|SLC13A3_uc010gho.1_Intron|SLC13A3_uc010zxx.1_Missense_Mutation_p.F251L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	349	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592		NaN											0	0	0	0.003163	0	14	58				
KCNB1	3745	broad.mit.edu	37	20	47990422	47990422	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr20:47990422C>G	uc002xur.1	-	2	1839	c.1675G>C	c.(1675-1677)GAA>CAA	p.E559Q	KCNB1_uc002xus.1_Missense_Mutation_p.E559Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	559	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTTCAAGTTCTTCCTTTGGT	0.493		NaN											0	0	0	0.01441	0	81	174				
RNF160	26046	broad.mit.edu	37	21	30307608	30307608	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:30307608T>C	uc002ymr.2	-	27	4849	c.4836A>G	c.(4834-4836)TCA>TCG	p.S1612S		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1566							ligase activity|zinc ion binding				0						TATGATAGACTGAACAAGCCA	0.343		NaN											0	0	0	0.00245	0	15	34				
HUNK	30811	broad.mit.edu	37	21	33368255	33368255	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:33368255G>T	uc002yph.2	+	10	1840	c.1480G>T	c.(1480-1482)GAC>TAC	p.D494Y		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	494					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGCTTCCCCGACAAAGGTGG	0.602		NaN											1	0	7.48243e-07	0.006214	7.71444e-07	10	24				
UBASH3A	53347	broad.mit.edu	37	21	43838679	43838679	+	Missense_Mutation	SNP	C	C	T	rs141628178	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:43838679C>T	uc002zbe.2	+	7	1043	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	UBASH3A_uc002zbf.2_Missense_Mutation_p.T298M|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.T298M	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	336	SH3.					cytosol|nucleus				ovary(3)	3						GAAAACTACACGGATCGAGCC	0.612		NaN											0	0	0	0.014323	0	20	28				
LSS	4047	broad.mit.edu	37	21	47648499	47648499	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr21:47648499C>A	uc002zij.2	-	2	108	c.29G>T	c.(28-30)CGA>CTA	p.R10L	LSS_uc011afv.1_Missense_Mutation_p.R10L|LSS_uc002zil.2_Missense_Mutation_p.R10L|LSS_uc002zik.2_5'UTR|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	10					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					GGGGCCCCCTCGGCGCCGCAG	0.746		NaN											1	0	1.23904e-05	0.000602	1.26278e-05	5	8				
PEX26	55670	broad.mit.edu	37	22	18567938	18567938	+	Missense_Mutation	SNP	C	C	T	rs149153003	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:18567938C>T	uc002znp.3	+	5	937	c.728C>T	c.(727-729)GCG>GTG	p.A243V	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A243V|PEX26_uc002znt.2_Intron	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	243	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						TGGGACTCTGCGGTGAGCCAC	0.542		NaN											0	0	0	0.000602	0	5	85				
CDC45	8318	broad.mit.edu	37	22	19504100	19504100	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19504100G>A	uc002zpr.2	+	16	1567	c.1491G>A	c.(1489-1491)CTG>CTA	p.L497L	CDC45_uc011aha.1_Silent_p.L529L|CDC45_uc002zps.2_Silent_p.L497L|CDC45_uc002zpt.2_Silent_p.L451L	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	497					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						CTGCCCCCCTGAGCATGGAGC	0.632		NaN											0	0	0	0.00333	0	22	35				
COMT	1312	broad.mit.edu	37	22	19951738	19951738	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:19951738G>A	uc002zqu.2	+	5	780	c.531G>A	c.(529-531)AAG>AAA	p.K177K	COMT_uc002zqt.2_Silent_p.K177K|COMT_uc002zqv.2_Silent_p.K177K|COMT_uc002zqw.2_Silent_p.K177K|COMT_uc011ahd.1_Silent_p.K177K|COMT_uc002zqx.2_Silent_p.K177K	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	177					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CCCAGCTGAAGAAGAAGTATG	0.592		NaN											0	0	0	0.01441	0	61	111				
OSM	5008	broad.mit.edu	37	22	30659991	30659991	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:30659991C>T	uc003ahb.2	-	3	692	c.640G>A	c.(640-642)GAG>AAG	p.E214K		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TTCGGGCTCTCCCCCCACTTG	0.637		NaN											0	0	0	0.004878	0	39	59				
WNT7B	7477	broad.mit.edu	37	22	46319096	46319096	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr22:46319096C>T	uc003bgo.2	-	4	1064	c.690G>A	c.(688-690)GAG>GAA	p.E230E	WNT7B_uc010haa.2_Silent_p.E234E	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	230					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGTTGTACTTCTCCTTCAGCA	0.642		NaN											0	0	0	0.003271	0	31	43				
TGM4	7047	broad.mit.edu	37	3	44943289	44943289	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:44943289G>C	uc003coc.3	+	8	910	c.837G>C	c.(835-837)CTG>CTC	p.L279L		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	279					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTCAGTGCTGAGAGCGTTGG	0.587		NaN											0	0	0	0.003163	0	15	33				
SETD2	29072	broad.mit.edu	37	3	47147508	47147508	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:47147508G>A	uc003cqs.2	-	6	4871	c.4818C>T	c.(4816-4818)TTC>TTT	p.F1606F	SETD2_uc003cqv.2_Silent_p.F1595F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1606	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGGGCCATGAAATAGTAAT	0.378		NaN	N|F|S|Mis		clear cell renal carcinoma								0	0	0	0.01441	0	55	130				
ROBO1	6091	broad.mit.edu	37	3	78676636	78676636	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:78676636C>T	uc003dqe.2	-	26	3918	c.3710G>A	c.(3709-3711)CGA>CAA	p.R1237Q	ROBO1_uc003dqb.2_Missense_Mutation_p.R1198Q|ROBO1_uc003dqc.2_Missense_Mutation_p.R1137Q|ROBO1_uc003dqd.2_Missense_Mutation_p.R1192Q|ROBO1_uc010hoh.2_Missense_Mutation_p.R429Q|ROBO1_uc011bgl.1_Missense_Mutation_p.R809Q	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1237	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGTGGGGCCTCGTTCATCTTC	0.507		NaN											0	0	0	0.00499	0	18	28				
TFG	10342	broad.mit.edu	37	3	100463742	100463742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:100463742C>T	uc003due.2	+	7	1236	c.787C>T	c.(787-789)CAG>TAG	p.Q263*	TFG_uc003duf.2_Nonsense_Mutation_p.Q263*|TFG_uc003dug.2_Nonsense_Mutation_p.Q259*|TFG_uc003duh.2_Nonsense_Mutation_p.Q259*|TFG_uc003dui.2_Nonsense_Mutation_p.Q263*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	263					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						GGCTCCACCTCAGCAGCCTCA	0.463		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	0.01441	0	49	112				
EEFSEC	60678	broad.mit.edu	37	3	128060617	128060617	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:128060617G>T	uc003eki.2	+	5	1366	c.1328G>T	c.(1327-1329)CGG>CTG	p.R443L	EEFSEC_uc003ekj.2_Missense_Mutation_p.R388L	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	443						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						AACACGTGCCGGCTAGCCTTC	0.602		NaN											1	0	2.74695e-27	0.01441	3.04454e-27	47	73				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	38	10				
FGFR3	2261	broad.mit.edu	37	4	1805533	1805533	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1805533C>T	uc003gdr.3	+	8	1301	c.1045C>T	c.(1045-1047)CAT>TAT	p.H349Y	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.H349Y|FGFR3_uc010icb.1_Missense_Mutation_p.H157Y|FGFR3_uc003gdt.1_Missense_Mutation_p.H178Y	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	349	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGGTTTTCTCATCACTCTGC	0.612		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	96	30				
FGFR3	2261	broad.mit.edu	37	4	1806112	1806112	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1806112C>T	uc003gdr.3	+	9	1387	c.1131C>T	c.(1129-1131)CTC>CTT	p.L377L	FGFR3_uc003gdu.2_Silent_p.L379L|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.L377L	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	377	Helical; (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.L377L(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CAGGCATCCTCAGCTACGGGG	0.687		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.01441	0	334	70				
C4orf21	55345	broad.mit.edu	37	4	113545020	113545020	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:113545020C>G	uc003iau.2	-	4	326	c.115G>C	c.(115-117)GAT>CAT	p.D39H	C4orf21_uc003iaw.2_Missense_Mutation_p.D39H	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCTTTGTCATCATATAAAATT	0.254		NaN											0	0	0	0.009718	0	39	9				
SH3RF1	57630	broad.mit.edu	37	4	170038745	170038745	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038745G>C	uc003isa.1	-	9	2041	c.1706C>G	c.(1705-1707)CCT>CGT	p.P569R	SH3RF1_uc010irc.1_Missense_Mutation_p.P269R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	569						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTAGCCTGAGGACTTGTCTG	0.582		NaN											0	0	0	0.01441	0	79	89				
SH3RF1	57630	broad.mit.edu	37	4	170038769	170038769	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038769G>A	uc003isa.1	-	9	2017	c.1682C>T	c.(1681-1683)TCA>TTA	p.S561L	SH3RF1_uc010irc.1_Missense_Mutation_p.S261L	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	561						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGAGCTGCTGATACCACAGC	0.587		NaN											0	0	0	0.01441	0	74	90				
SH3RF1	57630	broad.mit.edu	37	4	170038903	170038903	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:170038903G>A	uc003isa.1	-	9	1883	c.1548C>T	c.(1546-1548)GTC>GTT	p.V516V	SH3RF1_uc010irc.1_Silent_p.V216V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	516	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACATAGGGACTTTAGCTT	0.527		NaN											0	0	0	0.005443	0	26	38				
KIAA1430	57587	broad.mit.edu	37	4	186111756	186111756	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:186111756C>T	uc003ixf.3	-	2	742	c.595G>A	c.(595-597)GAT>AAT	p.D199N	KIAA1430_uc003ixg.2_Missense_Mutation_p.D199N	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	199	Ser-rich.										0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGAGACGAATCAGATAGATGG	0.318		NaN											0	0	0	0.00499	0	18	4				
TRIML1	339976	broad.mit.edu	37	4	189061706	189061706	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:189061706C>G	uc003izm.1	+	2	548	c.433C>G	c.(433-435)CTT>GTT	p.L145V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	145	Potential.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATCCTGAATCTTTTGCGTGT	0.478		NaN											0	0	0	0.01441	0	100	34				
ADAMTS16	170690	broad.mit.edu	37	5	5237159	5237159	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:5237159G>A	uc003jdl.2	+	14	2239	c.2101G>A	c.(2101-2103)GGG>AGG	p.G701R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701R|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	701	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AGTCAAAGATGGGACTCCATG	0.308		NaN											0	0	0	0.007835	0	42	96				
RAI14	26064	broad.mit.edu	37	5	34823332	34823332	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823332G>C	uc003jir.2	+	15	1581	c.1385G>C	c.(1384-1386)CGA>CCA	p.R462P	RAI14_uc010iur.2_Missense_Mutation_p.R433P|RAI14_uc011coj.1_Missense_Mutation_p.R462P|RAI14_uc003jis.2_Missense_Mutation_p.R465P|RAI14_uc003jit.2_Missense_Mutation_p.R462P|RAI14_uc011cok.1_Missense_Mutation_p.R454P	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	462	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CTCCAATCCCGAAGGGCAGAA	0.443		NaN											0	0	0	0.005524	0	37	67				
RAI14	26064	broad.mit.edu	37	5	34823439	34823439	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34823439G>C	uc003jir.2	+	15	1688	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	RAI14_uc010iur.2_Missense_Mutation_p.E469Q|RAI14_uc011coj.1_Missense_Mutation_p.E498Q|RAI14_uc003jis.2_Missense_Mutation_p.E501Q|RAI14_uc003jit.2_Missense_Mutation_p.E498Q|RAI14_uc011cok.1_Missense_Mutation_p.E490Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	498	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					GGCTATGAAAGAAGTCCTTAG	0.438		NaN											0	0	0	0.006999	0	37	49				
RAI14	26064	broad.mit.edu	37	5	34824386	34824386	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:34824386G>C	uc003jir.2	+	15	2635	c.2439G>C	c.(2437-2439)GAG>GAC	p.E813D	RAI14_uc010iur.2_Missense_Mutation_p.E784D|RAI14_uc011coj.1_Missense_Mutation_p.E813D|RAI14_uc003jis.2_Missense_Mutation_p.E816D|RAI14_uc003jit.2_Missense_Mutation_p.E813D|RAI14_uc011cok.1_Missense_Mutation_p.E805D	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	813	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CTGTGAAAGAGAAAGAGAAGG	0.413		NaN											0	0	0	0.01441	0	60	128				
C5orf42	65250	broad.mit.edu	37	5	37173929	37173929	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37173929G>A	uc011cpa.1	-	32	6330	c.6099C>T	c.(6097-6099)TTC>TTT	p.F2033F	C5orf42_uc011coy.1_Silent_p.F533F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.F1108F|C5orf42_uc003jkr.1_Silent_p.F66F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2033										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAGCCGTGAATTCATTTC	0.403		NaN											0	0	0	0.01441	0	64	91				
GDNF	2668	broad.mit.edu	37	5	37816164	37816164	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:37816164C>T	uc011cpi.1	-	3	425	c.225G>A	c.(223-225)CTG>CTA	p.L75L	GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Silent_p.L23L|GDNF_uc011cpe.1_Silent_p.L49L|GDNF_uc011cpf.1_Silent_p.L49L|GDNF_uc011cpg.1_Silent_p.L92L|GDNF_uc011cph.1_Silent_p.L66L	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	75					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					GTGACCTTTTCAGTCTTTTAA	0.438		NaN											0	0	0	0.00874	0	41	89				
NNT	23530	broad.mit.edu	37	5	43628317	43628317	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:43628317A>G	uc003joe.2	+	7	1047	c.792A>G	c.(790-792)GAA>GAG	p.E264E	NNT_uc003jof.2_Silent_p.E264E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	264	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	CAGCTTTGGAACAGTTCAAGT	0.413		NaN											0	0	0	0.01441	0	72	138				
SKIV2L2	23517	broad.mit.edu	37	5	54640370	54640370	+	Silent	SNP	A	A	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:54640370A>G	uc003jpy.3	+	9	1193	c.927A>G	c.(925-927)ACA>ACG	p.T309T	SKIV2L2_uc011cqi.1_Silent_p.T208T	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	309					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTACACAGATTATCGGC	0.348		NaN											0	0	0	0.007413	0	16	35				
POC5	134359	broad.mit.edu	37	5	74984960	74984960	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:74984960C>T	uc003keh.3	-	9	1203	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	POC5_uc010izu.2_Missense_Mutation_p.E219K|POC5_uc003keg.3_Missense_Mutation_p.E311K	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	336	Potential.				cell cycle	centriole				lung(1)	1						CTTTGAATCTCAGCTTTTGCA	0.308		NaN											0	0	0	0.000602	0	5	11				
RASA1	5921	broad.mit.edu	37	5	86670043	86670043	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:86670043C>T	uc003kiw.2	+	14	1958	c.1840C>T	c.(1840-1842)CCA>TCA	p.P614S	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P437S|RASA1_uc011ctv.1_Missense_Mutation_p.P447S|RASA1_uc011ctw.1_Missense_Mutation_p.P448S|RASA1_uc010jaw.2_Missense_Mutation_p.P436S	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	614	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTTACTAATCCATATTGTAA	0.338		NaN											0	0	0	0.004656	0	27	30				
C5orf48	389320	broad.mit.edu	37	5	125967431	125967431	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967431C>A	uc003kub.1	+	1	18	c.5C>A	c.(4-6)GCT>GAT	p.A2D		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	2										ovary(1)	1						TCAGGAATGGCTTCAGGGAAA	0.378		NaN											1	0	4.7796e-09	0.004656	4.98578e-09	25	76				
C5orf48	389320	broad.mit.edu	37	5	125967495	125967495	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:125967495C>G	uc003kub.1	+	1	82	c.69C>G	c.(67-69)CTC>CTG	p.L23L		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	23										ovary(1)	1						ATGAGAGTCTCTATAAATCTG	0.398		NaN											0	0	0	0.007291	0	27	66				
FBN2	2201	broad.mit.edu	37	5	127654607	127654607	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:127654607C>T	uc003kuu.2	-	35	4997	c.4558G>A	c.(4558-4560)GGT>AGT	p.G1520S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1520	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTCATAACCATCATCGCAG	0.378		NaN											0	0	0	0.005443	0	29	83				
PCDHGA5	56110	broad.mit.edu	37	5	140744002	140744002	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:140744002G>A	uc003lju.1	+	1	105	c.105G>A	c.(103-105)ATG>ATA	p.M35I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.M35I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	35	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTCGATGCCGGAGGAGC	0.667		NaN											0	0	0	0.003954	0	27	37				
FAM193B	54540	broad.mit.edu	37	5	176951275	176951275	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:176951275G>A	uc003mhs.3	-	8	3697	c.2108C>T	c.(2107-2109)CCA>CTA	p.P703L	FAM193B_uc003mhr.2_Missense_Mutation_p.S240L|FAM193B_uc003mht.2_Missense_Mutation_p.S362L|FAM193B_uc003mhu.2_Missense_Mutation_p.S415L|FAM193B_uc003mhv.2_Missense_Mutation_p.S362L|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0						TGCTGGGCCTGAGGGCTGCAC	0.667		NaN											0	0	0	0.000602	0	5	5				
CANX	821	broad.mit.edu	37	5	179151700	179151700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr5:179151700C>T	uc003mkk.2	+	13	1738	c.1561C>T	c.(1561-1563)CAA>TAA	p.Q521*	CANX_uc011dgp.1_Nonsense_Mutation_p.Q556*|CANX_uc003mkl.2_Nonsense_Mutation_p.Q521*|CANX_uc011dgq.1_Nonsense_Mutation_p.Q413*	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	521	Cytoplasmic (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATGCACCTCAACCGGATGT	0.239		NaN											0	0	0	0.00623	0	38	74				
VARS	7407	broad.mit.edu	37	6	31760563	31760563	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:31760563G>A	uc003nxe.2	-	4	1055	c.632C>T	c.(631-633)TCA>TTA	p.S211L	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	211	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCTGGCTCCTGAGTATAGAAC	0.562		NaN											0	0	0	0.01441	0	68	25				
GPR110	266977	broad.mit.edu	37	6	46977913	46977913	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:46977913G>C	uc003oyt.2	-	11	1457	c.1258C>G	c.(1258-1260)CTT>GTT	p.L420V	GPR110_uc011dwl.1_Missense_Mutation_p.L108V	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	420	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TTCAGAGGAAGAGCTGTCGGA	0.438		NaN											0	0	0	0.010818	0	32	103				
PRIM2	5558	broad.mit.edu	37	6	57512667	57512667	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:57512667G>A	uc003pdx.2	+	15	1582	c.1495G>A	c.(1495-1497)GAA>AAA	p.E499K		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	499					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATGGATATGGAAGGACTAGA	0.388		NaN											0	0	0	0.01441	0	70	620				
ANKRD6	22881	broad.mit.edu	37	6	90327727	90327727	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:90327727C>G	uc003pni.3	+	9	1110	c.769C>G	c.(769-771)CTT>GTT	p.L257V	ANKRD6_uc003pne.3_Missense_Mutation_p.L257V|ANKRD6_uc003pnf.3_Missense_Mutation_p.L257V|ANKRD6_uc011dzy.1_Missense_Mutation_p.L257V|ANKRD6_uc010kcd.2_Intron|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	257	ANK 8.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GGAAGTTGCTCTTCTCCTTAC	0.542		NaN											0	0	0	0.01441	0	65	47				
C6orf182	285753	broad.mit.edu	37	6	109471320	109471320	+	Splice_Site	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr6:109471320G>C	uc010kdk.2	+	6	918	c.341_splice	c.e6-1	p.D114_splice	C6orf182_uc003psv.3_Intron|C6orf182_uc003psw.3_Splice_Site_p.D114_splice|C6orf182_uc003psx.3_Splice_Site_p.D114_splice|C6orf182_uc010kdl.2_Splice_Site_p.D114_splice|C6orf182_uc003psy.3_Splice_Site_p.D114_splice	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753							microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		ttatttcATAGATATAAGTAT	0.194		NaN											0	0	0	0.01441	0	55	25				
PMS2	5395	broad.mit.edu	37	7	6045538	6045538	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:6045538C>G	uc003spl.2	-	2	235	c.148G>C	c.(148-150)GGT>CGT	p.G50R	PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.G50R|PMS2_uc010ktf.1_Missense_Mutation_p.G50R	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	50					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTAGTGGCACCAGCATCCAGA	0.398		NaN	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.01441	0	175	379				
TMEM195	392636	broad.mit.edu	37	7	15430465	15430465	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:15430465C>T	uc003stb.1	-	7	912	c.742G>A	c.(742-744)GGG>AGG	p.G248R		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	248					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TTTTACTTACCAAAAATTTTA	0.264		NaN											0	0	0	0.007291	0	29	43				
AGR3	155465	broad.mit.edu	37	7	16913467	16913467	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:16913467C>T	uc003sts.2	-	3	183	c.110G>A	c.(109-111)GGA>GAA	p.G37E		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	37						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATCTCCCCATCCTGAAATAGA	0.353		NaN											0	0	0	0.007291	0	26	47				
DFNA5	1687	broad.mit.edu	37	7	24784190	24784190	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24784190G>C	uc010kus.1	-	3	483	c.395C>G	c.(394-396)TCT>TGT	p.S132C	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.S132C|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.S132C|DFNA5_uc003sxc.2_Missense_Mutation_p.S132C	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	132					sensory perception of sound					ovary(1)	1						CCTCTCGGCAGAGTCTCTGAT	0.493		NaN											0	0	0	0.01441	0	59	73				
OSBPL3	26031	broad.mit.edu	37	7	24856260	24856260	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:24856260G>A	uc003sxf.2	-	18	2401	c.1996C>T	c.(1996-1998)CCA>TCA	p.P666S	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P630S|OSBPL3_uc003sxh.2_Missense_Mutation_p.P635S|OSBPL3_uc003sxi.2_Missense_Mutation_p.P599S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	666					lipid transport		lipid binding|protein binding			skin(1)	1						GTGCCAATTGGAACAATTTCC	0.398		NaN											0	0	0	0.01441	0	74	116				
AKAP9	10142	broad.mit.edu	37	7	91603051	91603051	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:91603051T>C	uc003ulg.2	+	2	300	c.75T>C	c.(73-75)GCT>GCC	p.A25A	AKAP9_uc003uld.3_Silent_p.A25A|AKAP9_uc003ule.2_Silent_p.A37A|AKAP9_uc003ulf.2_Silent_p.A25A	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	37					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGAAAAGCTCAGTCGGATG	0.368		NaN	T	BRAF	papillary thyroid								0	0	0	0.008871	0	17	34				
ZNF394	84124	broad.mit.edu	37	7	99096378	99096378	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:99096378C>T	uc003uqs.2	-	2	705	c.544G>A	c.(544-546)GAG>AAG	p.E182K	ZNF394_uc003uqt.2_Intron|ZNF394_uc003uqu.1_Missense_Mutation_p.E182K	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	182	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCGCACTCTCTCTGCAGAAG	0.577		NaN											0	0	0	0.010504	0	20	44				
MLL5	55904	broad.mit.edu	37	7	104753361	104753361	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:104753361C>G	uc003vcm.2	+	27	5692	c.5158C>G	c.(5158-5160)CCG>GCG	p.P1720A	MLL5_uc010ljc.2_Missense_Mutation_p.P1720A|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P454A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1720	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ACCACCCCCTCCGCCGCCACC	0.552		NaN											0	0	0	0.00874	0	41	46				
SLC26A4	5172	broad.mit.edu	37	7	107335098	107335098	+	Silent	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:107335098G>T	uc003vep.2	+	12	1598	c.1374G>T	c.(1372-1374)CTG>CTT	p.L458L	SLC26A4_uc011kmb.1_Silent_p.L45L|SLC26A4_uc011kmc.1_Silent_p.L19L|SLC26A4_uc011kmd.1_Silent_p.L27L	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	458	Helical; (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TTGCCAACCTGAAAGGGATGT	0.418		NaN							Pendred_syndrome				1	0	6.61955e-31	0.01441	7.42954e-31	40	75				
FLNC	2318	broad.mit.edu	37	7	128470904	128470904	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:128470904C>T	uc003vnz.3	+	1	422	c.213C>T	c.(211-213)ATC>ATT	p.I71I	FLNC_uc003voa.3_Silent_p.I71I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	71	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCCGGCTCATCGCGCTGCTCG	0.637		NaN											0	0	0	0.003163	0	16	35				
GIMAP8	155038	broad.mit.edu	37	7	150174632	150174632	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150174632C>T	uc003whj.2	+	5	2092	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	588						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAAGCCCTTCGGCGCATTTT	0.463		NaN											0	0	0	0.01441	0	61	86				
SLC4A2	6522	broad.mit.edu	37	7	150767332	150767332	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:150767332C>T	uc003wit.3	+	10	1604	c.1348C>T	c.(1348-1350)CTG>TTG	p.L450L	SLC4A2_uc011kve.1_Silent_p.L441L|SLC4A2_uc003wiu.3_Silent_p.L436L|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	450	Cytoplasmic (Potential).			LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGGCTCCCTGCTGGGGCA	0.642		NaN											0	0	0	0.01441	0	46	72				
GALNT11	63917	broad.mit.edu	37	7	151791435	151791435	+	Silent	SNP	C	C	T	rs138436495	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr7:151791435C>T	uc010lqg.1	+	2	353	c.123C>T	c.(121-123)CCC>CCT	p.P41P	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.P41P|GALNT11_uc003wkv.1_Silent_p.P41P|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	41	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGAATGTGCCCGTCAAGGGGT	0.473		NaN											0	0	0	0.013537	0	12	284				
BMP1	649	broad.mit.edu	37	8	22052270	22052270	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:22052270C>T	uc003xbg.2	+	12	1721	c.1477C>T	c.(1477-1479)CTG>TTG	p.L493L	BMP1_uc003xba.2_Silent_p.L493L|BMP1_uc003xbb.2_Silent_p.L493L|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.L242L|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.L242L|BMP1_uc011kzc.1_Silent_p.L242L|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	493	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTACGACTATCTGGAGGTGCG	0.617		NaN											0	0	0	0.003755	0	31	52				
DDHD2	23259	broad.mit.edu	37	8	38095721	38095721	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:38095721C>A	uc003xlb.2	+	5	993	c.616C>A	c.(616-618)CAT>AAT	p.H206N	DDHD2_uc003xla.2_Missense_Mutation_p.H206N|DDHD2_uc003xlc.2_Missense_Mutation_p.H206N|DDHD2_uc011lbl.1_Intron	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	206					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TGTTGACATTCATTGTGGTAA	0.418		NaN											1	0	3.03874e-20	0.003271	3.2992e-20	32	63				
EIF3E	3646	broad.mit.edu	37	8	109240615	109240615	+	Silent	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:109240615C>G	uc003ymu.2	-	7	631	c.603G>C	c.(601-603)GTG>GTC	p.V201V	EIF3E_uc003ymt.2_Silent_p.V152V|EIF3E_uc003ymv.2_Silent_p.V108V|EIF3E_uc010mci.1_Silent_p.V201V	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	201					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTGGAGAACTCACAGACTAAA	0.328		NaN											0	0	0	0.004289	0	37	75				
OC90	729330	broad.mit.edu	37	8	133047065	133047065	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:133047065C>T	uc003ytg.2	-	9	696	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	OC90_uc011lix.1_Silent_p.Q232Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	248					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCACTCCTTCCTGATCGTGGC	0.567		NaN											0	0	0	0.01441	0	49	99				
FRMPD1	22844	broad.mit.edu	37	9	37746352	37746352	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:37746352G>A	uc004aag.1	+	16	4367	c.4323G>A	c.(4321-4323)GGG>GGA	p.G1441G	FRMPD1_uc004aah.1_Silent_p.G1441G	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1441						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CTTCCTGGGGGGTTGGAAACA	0.572		NaN											0	0	0	0.006214	0	10	19				
CDC14B	8555	broad.mit.edu	37	9	99381613	99381613	+	Silent	SNP	G	G	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:99381613G>C	uc004awj.2	-	1	500	c.48C>G	c.(46-48)CCC>CCG	p.P16P	CDC14B_uc004awk.2_Silent_p.P16P|CDC14B_uc004awl.2_RNA	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	16	Nucleolar localization signal (Probable).				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GCCGCGAGCAGGGGGGCGCGG	0.677		NaN											0	0	0	0.013537	0	12	5				
KIF12	113220	broad.mit.edu	37	9	116854869	116854869	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr9:116854869G>A	uc004bif.2	-	14	1474	c.1236C>T	c.(1234-1236)CCC>CCT	p.P412P	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	545	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GGGGTGCCCAGGGTGGGGGCC	0.652		NaN											0	0	0	0.013537	0	11	5				
RPGR	6103	broad.mit.edu	37	X	38135986	38135986	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:38135986C>G	uc004deb.2	-	16	2113	c.1945G>C	c.(1945-1947)GAT>CAT	p.D649H	RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCATCCACATCTTCTAGTTTT	0.353		NaN											0	0	0	0.005524	0	40	21				
KDM6A	7403	broad.mit.edu	37	X	44966676	44966676	+	Silent	SNP	G	G	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44966676G>A	uc004dge.3	+	27	4275	c.3900G>A	c.(3898-3900)CTG>CTA	p.L1300L	KDM6A_uc011mkz.1_Silent_p.L1352L|KDM6A_uc011mla.1_Silent_p.L1255L|KDM6A_uc011mlb.1_Silent_p.L1307L|KDM6A_uc011mlc.1_Silent_p.L1004L|KDM6A_uc011mld.1_Silent_p.L939L	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1300					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAAGAACTCTGAAGCAATGTC	0.373		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.01441	0	66	18				
KDM6A	7403	broad.mit.edu	37	X	44969330	44969330	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:44969330G>T	uc004dge.3	+	28	4387	c.4012G>T	c.(4012-4014)GTT>TTT	p.V1338F	KDM6A_uc011mkz.1_Missense_Mutation_p.V1390F|KDM6A_uc011mla.1_Missense_Mutation_p.V1293F|KDM6A_uc011mlb.1_Missense_Mutation_p.V1345F|KDM6A_uc011mlc.1_Missense_Mutation_p.V1042F|KDM6A_uc011mld.1_Missense_Mutation_p.V977F	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1338					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						ACAGGTGGAGGTTTTTGATCT	0.338		NaN	D|N|F|S		renal|oesophageal SCC|MM								1	0	1.08052e-11	0.004289	1.13604e-11	36	23				
CCDC120	90060	broad.mit.edu	37	X	48925201	48925201	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:48925201C>T	uc010nik.2	+	10	1953	c.1446C>T	c.(1444-1446)CTC>CTT	p.L482L	CCDC120_uc011mmq.1_Silent_p.L470L|CCDC120_uc004dmf.2_Silent_p.L482L|CCDC120_uc010nil.2_Silent_p.L482L|CCDC120_uc011mmr.1_Silent_p.L482L|CCDC120_uc011mms.1_Silent_p.L470L	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	482	Pro-rich.						protein binding			pancreas(1)	1						ATGGGCTCCTCACCATGCTCC	0.711		NaN											0	0	0	0.00278	0	21	9				
MED12	9968	broad.mit.edu	37	X	70351453	70351453	+	Silent	SNP	C	C	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:70351453C>T	uc004dyy.2	+	29	4300	c.4101C>T	c.(4099-4101)ATC>ATT	p.I1367I	MED12_uc011mpq.1_Silent_p.I1367I|MED12_uc004dyz.2_Silent_p.I1367I|MED12_uc004dza.2_Silent_p.I1214I|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1367					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					AGCTCATGATCAAGCAGACCC	0.562		NaN											0	0	0	0.010818	0	27	11				
RLIM	51132	broad.mit.edu	37	X	73812256	73812256	+	Silent	SNP	T	T	C			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chrX:73812256T>C	uc004ebu.2	-	5	1184	c.894A>G	c.(892-894)GCA>GCG	p.A298A	RLIM_uc004ebw.2_Silent_p.A298A	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	298					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTGAAGAACCTGCTCCTTGAG	0.488		NaN											0	0	0	0.003755	0	34	15				
CLCN6	1185	broad.mit.edu	37	1	11867207	11867207	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:11867207A>G	uc001ate.3	+	2	220	c.107A>G	c.(106-108)CAG>CGG	p.Q36R	MTHFR_uc001atc.1_5'Flank|MTHFR_uc001atd.1_5'Flank|MTHFR_uc009vnd.1_5'Flank|CLCN6_uc009vne.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnf.1_Missense_Mutation_p.Q36R|CLCN6_uc009vng.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnh.1_Missense_Mutation_p.Q36R|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.Q36R	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	36	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAACACAGGAGGAGGAG	0.473		NaN											0	0	0	0.010818	0	23	14				
ARID1A	8289	broad.mit.edu	37	1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:27100375C>T	uc001bmv.1	+	17	4460	c.4087C>T	c.(4087-4089)CAA>TAA	p.Q1363*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1362*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1363*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q980*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q209*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1363	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.01441	0	121	96		Valid		
ROR1	4919	broad.mit.edu	37	1	64643579	64643579	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:64643579C>T	uc001dbj.2	+	9	2254	c.1855C>T	c.(1855-1857)CGC>TGC	p.R619C	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	619	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCTTGCAGCTCGCAATATTTT	0.453		NaN											0	0	0	0.016723	0	13	28				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510286	77510286	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:77510286C>A	uc001dhi.2	+	3	834	c.659C>A	c.(658-660)ACT>AAT	p.T220N	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	220	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						AAGCAGGAGACTGGCAAAGAC	0.527		NaN											1	0	5.35356e-11	0.016522	5.80548e-11	20	216				
IFI44	10561	broad.mit.edu	37	1	79115948	79115948	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:79115948G>A	uc001dip.3	+	2	192	c.68G>A	c.(67-69)CGG>CAG	p.R23Q	IFI44_uc010orr.1_Missense_Mutation_p.R23Q|IFI44_uc010ors.1_Intron	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	interferon-induced, hepatitis C-associated	23					response to virus	cytoplasm				ovary(1)|central_nervous_system(1)	2						GGAGGGAAGCGGCTTAGCCTT	0.403		NaN											0	0	0	0.012319	0	19	55				
DPYD	1806	broad.mit.edu	37	1	98187182	98187182	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:98187182C>A	uc001drv.2	-	5	504	c.367G>T	c.(367-369)GGT>TGT	p.G123C	DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G123C	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	123					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAAGTCAGACCAAGTGGGTTG	0.348		NaN											1	0	4.34086e-07	0.023175	4.58813e-07	32	51				
DENND4B	9909	broad.mit.edu	37	1	153915377	153915377	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:153915377G>A	uc001fdd.1	-	3	948	c.547C>T	c.(547-549)CCC>TCC	p.P183S		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	183	MABP.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGTTGCGGGGCAGCCGGCAG	0.632		NaN											0	0	0	0.009096	0	3	43				
ELF3	1999	broad.mit.edu	37	1	201983142	201983142	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201983142C>T	uc001gxg.3	+	7	4183	c.991C>T	c.(991-993)CGG>TGG	p.R331W	ELF3_uc001gxi.3_Missense_Mutation_p.R331W|ELF3_uc001gxh.3_Missense_Mutation_p.R331W	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	331	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						GAAGCTGAGCCGGGCCATGAG	0.607		NaN											0	0	0	0.024245	0	13	9		Valid		
PRSS38	339501	broad.mit.edu	37	1	228005156	228005156	+	Silent	SNP	G	G	A	rs139000968	by1000genomes	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:228005156G>A	uc001hrh.2	+	3	558	c.558G>A	c.(556-558)ACG>ACA	p.T186T		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	186	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						GCTGGGCTACGGGATGGGGAC	0.527		NaN											0	0	0	0.020292	0	12	74				
LYST	1130	broad.mit.edu	37	1	235922848	235922848	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:235922848C>T	uc001hxj.2	-	23	6480	c.6305G>A	c.(6304-6306)CGT>CAT	p.R2102H	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2102					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTTCTAGAACGCAGCATATG	0.378		NaN							Chediak-Higashi_syndrome				0	0	0	0.00499	0	14	66				
OR2T12	127064	broad.mit.edu	37	1	248458734	248458735	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:248458734_248458735CC>AA	uc010pzj.1	-	1	146_147	c.146_147GG>TT	c.(145-147)TGG>TTT	p.W49F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCGGTGGTCCCAGTGAATCAG	0.535		NaN											0	0	0	0.004672	0	22	33				
C10orf2	56652	broad.mit.edu	37	10	102749592	102749592	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr10:102749592G>C	uc001ksf.2	+	2	2110	c.1435G>C	c.(1435-1437)GAG>CAG	p.E479Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.E479Q|C10orf2_uc001ksi.2_Missense_Mutation_p.E25Q|C10orf2_uc010qpv.1_Missense_Mutation_p.E25Q|C10orf2_uc001ksh.2_RNA	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	479	SF4 helicase.		E -> K (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGACCGCTTTGAGGACCTGCC	0.532		NaN											0	0	0	0.01441	0	45	144				
SFXN4	119559	broad.mit.edu	37	10	120925084	120925084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr10:120925084C>A	uc001leb.2	-	1	121	c.76G>T	c.(76-78)GAG>TAG	p.E26*	SFXN4_uc001ldz.2_5'Flank|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	26					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGTTGGGCTCAATGAAGGCG	0.433		NaN											1	0	4.3838e-07	0.016723	4.60437e-07	12	26				
CDHR5	53841	broad.mit.edu	37	11	617954	617954	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:617954C>T	uc001lqj.2	-	14	2223	c.2118G>A	c.(2116-2118)CCG>CCA	p.P706P	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.P512P|CDHR5_uc009ycc.2_Silent_p.P540P|CDHR5_uc009ycd.2_Silent_p.P700P|CDHR5_uc001lql.2_Silent_p.P706P	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	706	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TGGGCCTCACCGGAGCTTTGC	0.672		NaN											0	0	0	0.010729	0	9	12				
MRGPRE	116534	broad.mit.edu	37	11	3249921	3249921	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:3249921C>T	uc001lxq.3	-	2	416	c.106G>A	c.(106-108)GGT>AGT	p.G36S		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	36	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGCCCACCGAGGCCGAGC	0.652		NaN											0	0	0	0.006214	0	9	76				
C11orf16	56673	broad.mit.edu	37	11	8947502	8947502	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:8947502G>A	uc001mhb.3	-	5	836	c.712C>T	c.(712-714)CAC>TAC	p.H238Y	C11orf16_uc001mhc.3_Missense_Mutation_p.H238Y	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	238										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGGGCCCAGTGAAGGGGCCTG	0.607		NaN											0	0	0	0.013537	0	10	88				
TIGD3	220359	broad.mit.edu	37	11	65123927	65123927	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:65123927C>T	uc001odo.3	+	2	811	c.648C>T	c.(646-648)CTC>CTT	p.L216L		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	216	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						TGGGTGGGCTCCAGGCTGCCC	0.637		NaN											0	0	0	0.00308	0	8	129				
SSH3	54961	broad.mit.edu	37	11	67077777	67077777	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:67077777G>A	uc001okj.2	+	13	1828	c.1650G>A	c.(1648-1650)CTG>CTA	p.L550L	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Silent_p.L404L	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	550					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTGGAGCTGGAGAGCACCT	0.622		NaN											0	0	0	0.028581	0	12	72				
PRCP	5547	broad.mit.edu	37	11	82611320	82611320	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:82611320G>C	uc001ozs.2	-	1	238	c.125C>G	c.(124-126)CCG>CGG	p.P42R	PRCP_uc001ozr.2_Missense_Mutation_p.P42R|C11orf82_uc001ozt.2_5'Flank|C11orf82_uc010rsr.1_5'Flank|C11orf82_uc010rss.1_5'Flank|C11orf82_uc009yvd.2_5'Flank	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	42					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						GGCTACAGCCGGGAGGGATGT	0.637		NaN											0	0	0	0.028581	0	13	85				
KBTBD3	143879	broad.mit.edu	37	11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:105929784C>T	uc001pja.2	-	3	681	c.41G>A	c.(40-42)CGA>CAA	p.R14Q	KBTBD3_uc001pjb.2_Missense_Mutation_p.R14Q|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	10										ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328		NaN											0	0	0	0.014758	0	4	35				
CHEK1	1111	broad.mit.edu	37	11	125513987	125513987	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr11:125513987G>A	uc009zbo.2	+	10	1817	c.925G>A	c.(925-927)GAA>AAA	p.E309K	CHEK1_uc010sbh.1_Missense_Mutation_p.E325K|CHEK1_uc010sbi.1_Missense_Mutation_p.E309K|CHEK1_uc001qcf.3_Missense_Mutation_p.E309K|CHEK1_uc009zbp.2_Missense_Mutation_p.E309K|CHEK1_uc001qcg.3_Missense_Mutation_p.E309K|CHEK1_uc009zbq.2_Missense_Mutation_p.E309K|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'UTR	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	309					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ATGCCTCAGTGAAGAAAATGT	0.378		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.007835	0	38	26				
VWF	7450	broad.mit.edu	37	12	6105241	6105241	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:6105241G>C	uc001qnn.1	-	35	6240	c.5990C>G	c.(5989-5991)GCA>GGA	p.A1997G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1997	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCCCTGCCTTGCTCCAGGGCT	0.522		NaN											0	0	0	0.00499	0	14	24				
PRR4	11272	broad.mit.edu	37	12	11000981	11000981	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:11000981G>A	uc001qyz.3	-	2	129	c.90C>T	c.(88-90)TTC>TTT	p.F30F	PRR4_uc009zhp.2_Silent_p.F43F|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA|PRR4_uc009zhq.1_RNA	NM_007244	NP_009175	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal) isoform 2	30					visual perception	extracellular space					0						CTGGTATGGTGAAAGTAAAGT	0.358		NaN											0	0	0	0.007413	0	15	15				
ATF7IP	55729	broad.mit.edu	37	12	14577646	14577646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:14577646C>T	uc001rbw.2	+	2	955	c.797C>T	c.(796-798)TCT>TTT	p.S266F	ATF7IP_uc010shs.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbu.2_Missense_Mutation_p.S266F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbx.2_Missense_Mutation_p.S266F|ATF7IP_uc010sht.1_Missense_Mutation_p.S266F|ATF7IP_uc001rby.3_Missense_Mutation_p.S266F|ATF7IP_uc001rbz.1_Missense_Mutation_p.S266F|ATF7IP_uc001rca.2_Missense_Mutation_p.S266F|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	266					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GAACTGGCCTCTGATGATCTG	0.483		NaN											0	0	0	0.010818	0	29	86				
PRPF40B	25766	broad.mit.edu	37	12	50026812	50026812	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:50026812G>A	uc001rur.1	+	6	362	c.298G>A	c.(298-300)GAG>AAG	p.E100K	PRPF40B_uc001rup.1_Missense_Mutation_p.E122K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E94K|PRPF40B_uc001rus.1_Missense_Mutation_p.E43K	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	100	WW 1.				mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CCTATGGAGTGAGCATGTGGC	0.582		NaN											0	0	0	0.014758	0	4	10				
KRT7	3855	broad.mit.edu	37	12	52627328	52627328	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:52627328C>G	uc001saa.1	+	1	375	c.248C>G	c.(247-249)TCC>TGC	p.S83C	KRT7_uc009zmf.1_Missense_Mutation_p.S83C	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	83	Head.			SL -> FS (in Ref. 3; CAB41416).	cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCCGACCCCTCCCTCCAGCGG	0.677		NaN											0	0	0	0.00499	0	16	64				
NAV3	89795	broad.mit.edu	37	12	78360077	78360077	+	Silent	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:78360077T>C	uc001syp.2	+	4	656	c.483T>C	c.(481-483)GCT>GCC	p.A161A	NAV3_uc001syo.2_Silent_p.A161A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	161	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GTCTATCTGCTGAAGGTAAGA	0.338		NaN								HNSCC(70;0.22)			0	0	0	0.010504	0	18	22				
NTS	4922	broad.mit.edu	37	12	86272345	86272345	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:86272345G>A	uc001tag.2	+	3	465	c.358G>A	c.(358-360)GAG>AAG	p.E120K		NM_006183	NP_006174	P30990	NEUT_HUMAN	neurotensin/neuromedin N preproprotein	120					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity				0						TCAACACTGGGAGGTATAGCA	0.333		NaN											0	0	0	0.00308	0	6	41				
GPR109A	338442	broad.mit.edu	37	12	123186957	123186957	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr12:123186957C>T	uc001ucx.1	-	1	948	c.874G>A	c.(874-876)GTG>ATG	p.V292M	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	292	Helical; Name=7; (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TAGTACACCACGGGGTCCAGC	0.527		NaN											0	0	0	0.021553	0	4	44				
KL	9365	broad.mit.edu	37	13	33635874	33635874	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:33635874G>A	uc001uus.2	+	4	2666	c.2658G>A	c.(2656-2658)CTG>CTA	p.L886L	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	886	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACGACCAGCTGAGGGTGTATT	0.488		NaN											0	0	0	0.007413	0	18	67				
POU4F1	5457	broad.mit.edu	37	13	79175873	79175873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:79175873C>T	uc001vkv.2	-	2	1171	c.937G>A	c.(937-939)GAG>AAG	p.E313K	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	313	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCGACTCGAACCTGCAG	0.647		NaN											0	0	0	0.008291	0	6	18				
TPP2	7174	broad.mit.edu	37	13	103326724	103326724	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr13:103326724G>A	uc001vpi.3	+	27	3527	c.3424G>A	c.(3424-3426)GAC>AAC	p.D1142N		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1142					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAGGCTCAAGACGGAGCCAT	0.478		NaN											0	0	0	0.027356	0	24	39				
SLC7A7	9056	broad.mit.edu	37	14	23249162	23249162	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:23249162C>T	uc001wgr.3	-	3	736	c.598G>A	c.(598-600)GTT>ATT	p.V200I	SLC7A7_uc001wgs.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgt.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgu.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgv.3_Missense_Mutation_p.V200I	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	200	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATGCCTGCAACGATGACCGCG	0.299		NaN											0	0	0	0.016522	0	18	53				
MYH6	4624	broad.mit.edu	37	14	23866174	23866174	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:23866174C>A	uc001wjv.2	-	18	2233	c.2166G>T	c.(2164-2166)CAG>CAT	p.Q722H		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	722	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATACCCACCTCTGCCGGAAGT	0.627		NaN											1	0	8.88839e-20	0.010818	9.76554e-20	22	60				
DDX24	57062	broad.mit.edu	37	14	94527268	94527268	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:94527268C>T	uc001ycj.2	-	4	1487	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	DDX24_uc010twq.1_Missense_Mutation_p.R420Q|DDX24_uc010twr.1_Missense_Mutation_p.R213Q	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	463	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCTGAGCTGCCGAAGGTTCCT	0.488		NaN											0	0	0	0.004482	0	7	34				
CLMN	79789	broad.mit.edu	37	14	95688091	95688091	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:95688091C>T	uc001yef.2	-	4	377	c.261G>A	c.(259-261)TCG>TCA	p.S87S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	87	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		TACGATGCGACGAGGATTTGT	0.443		NaN											0	0	0	0.006214	0	8	43				
PAPOLA	10914	broad.mit.edu	37	14	97003321	97003321	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:97003321A>G	uc001yfq.2	+	12	1249	c.1039A>G	c.(1039-1041)ATC>GTC	p.I347V	PAPOLA_uc001yfr.2_Missense_Mutation_p.I347V|PAPOLA_uc010twv.1_Missense_Mutation_p.I347V|PAPOLA_uc010avp.2_Missense_Mutation_p.I97V	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	347					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGGTCTTGCTATCACAGATGA	0.308		NaN											0	0	0	0.016723	0	10	24				
HSP90AA1	3320	broad.mit.edu	37	14	102549453	102549453	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr14:102549453T>C	uc001yku.3	-	9	1863	c.1673A>G	c.(1672-1674)AAA>AGA	p.K558R	HSP90AA1_uc001ykv.3_Missense_Mutation_p.K680R|HSP90AA1_uc001ykw.1_Missense_Mutation_p.K379R|HSP90AA1_uc001ykx.1_Missense_Mutation_p.K547R	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	558					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ctgcttctttttctcttcttc	0.224		NaN											0	0	0	0.004482	0	9	15				
ATP10A	57194	broad.mit.edu	37	15	25947187	25947187	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:25947187C>T	uc010ayu.2	-	13	2742	c.2636G>A	c.(2635-2637)CGT>CAT	p.R879H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	879	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCCGCTTGACGCAATTTAGA	0.527		NaN											0	0	0	0.016522	0	22	76				
SLC12A1	6557	broad.mit.edu	37	15	48541868	48541868	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:48541868C>A	uc001zwn.3	+	14	1997	c.1781C>A	c.(1780-1782)TCT>TAT	p.S594Y	SLC12A1_uc010uew.1_Missense_Mutation_p.S400Y|SLC12A1_uc010bem.2_Missense_Mutation_p.S594Y|SLC12A1_uc001zwq.3_Missense_Mutation_p.S365Y|SLC12A1_uc001zwr.3_Missense_Mutation_p.S321Y	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	594	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATGCCAAATCTCCAGGTAAG	0.388		NaN											1	0	1.08611e-07	0.010729	1.16269e-07	10	48				
CGNL1	84952	broad.mit.edu	37	15	57730261	57730261	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:57730261G>A	uc002aeg.2	+	2	140	c.64G>A	c.(64-66)GCA>ACA	p.A22T	CGNL1_uc010bfw.2_Missense_Mutation_p.A22T	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	22	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTGAGACTCGCAAGTGATGA	0.493		NaN											0	0	0	0.01441	0	70	179				
DPP8	54878	broad.mit.edu	37	15	65756226	65756226	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:65756226G>A	uc002aov.2	-	15	3470	c.1892C>T	c.(1891-1893)ACT>ATT	p.T631I	DPP8_uc002aow.2_Missense_Mutation_p.T631I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.T615I|DPP8_uc002aoy.2_Missense_Mutation_p.T631I|DPP8_uc002aoz.2_Missense_Mutation_p.T615I|DPP8_uc010bhj.2_Missense_Mutation_p.T631I|DPP8_uc002apa.2_Missense_Mutation_p.T528I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.T200I	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	631					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TTCTGGAGGAGTATAGTCAGG	0.378		NaN											0	0	0	0.007413	0	17	26				
PTPN9	5780	broad.mit.edu	37	15	75762295	75762295	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:75762295G>T	uc002bal.2	-	12	1913	c.1405C>A	c.(1405-1407)CCA>ACA	p.P469T		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	469	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						CCATAGTCTGGCCAGCTCAAG	0.507		NaN											1	0	5.01169e-05	0.00499	5.16638e-05	15	48				
IREB2	3658	broad.mit.edu	37	15	78790398	78790398	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:78790398C>T	uc002bdr.2	+	22	2967	c.2805C>T	c.(2803-2805)AGC>AGT	p.S935S	IREB2_uc010unb.1_Silent_p.S685S	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	935							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGTATTCAGCGTGATTGCTT	0.363		NaN											0	0	0	0.014758	0	5	53				
ADAMTS7	11173	broad.mit.edu	37	15	79060507	79060507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr15:79060507C>A	uc002bej.3	-	17	2824	c.2613G>T	c.(2611-2613)CAG>CAT	p.Q871H	ADAMTS7_uc010und.1_Missense_Mutation_p.Q447H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	871	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TGCACTTCCTCTGTTGGTCAT	0.453		NaN											1	0	5.18039e-06	0.00308	5.37345e-06	7	18				
CCDC78	124093	broad.mit.edu	37	16	775266	775266	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:775266C>T	uc002cjg.2	-	5	569	c.463G>A	c.(463-465)GAG>AAG	p.E155K	CCDC78_uc002cjf.2_Missense_Mutation_p.E4K|CCDC78_uc002cji.3_Missense_Mutation_p.E229K|CCDC78_uc002cjj.3_Missense_Mutation_p.E99K|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.E155K|CCDC78_uc002cjk.2_Missense_Mutation_p.E144K|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	155										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				TGCTCATTCTCGGGGTTCATG	0.627		NaN											0	0	0	0.010818	0	22	108				
SRRM2	23524	broad.mit.edu	37	16	2818182	2818182	+	Silent	SNP	G	G	C	rs149616150	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:2818182G>C	uc002crk.2	+	11	8202	c.7653G>C	c.(7651-7653)TCG>TCC	p.S2551S	SRRM2_uc002crj.1_Silent_p.S2455S|SRRM2_uc002crl.1_Silent_p.S2551S|SRRM2_uc010bsu.1_Silent_p.S2455S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2551	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						cgtcgtcgtcgtcctcctcct	0.368		NaN											0	0	0	0.013537	0	11	10				
CREBBP	1387	broad.mit.edu	37	16	3779153	3779153	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr16:3779153C>T	uc002cvv.2	-	31	6099	c.5895G>A	c.(5893-5895)GAG>GAA	p.E1965E	CREBBP_uc002cvw.2_Silent_p.E1927E	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1965					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGCTGGGCCTCACGCTCGA	0.711		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.004672	0	3	6				
ABR	29	broad.mit.edu	37	17	1028677	1028677	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:1028677G>A	uc002fsd.2	-	2	197	c.87C>T	c.(85-87)TAC>TAT	p.Y29Y	ABR_uc002fse.2_Translation_Start_Site|ABR_uc010cjq.1_Silent_p.Y41Y	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	29					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCTCCGTCGTACTCGTCCG	0.592		NaN											0	0	0	0.01441	0	44	142				
CYTSB	92521	broad.mit.edu	37	17	20108086	20108086	+	Missense_Mutation	SNP	G	G	A	rs144644210		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:20108086G>A	uc002gwq.2	+	4	869	c.724G>A	c.(724-726)GAT>AAT	p.D242N	CYTSB_uc010cqx.2_Missense_Mutation_p.D242N|CYTSB_uc002gwr.2_Missense_Mutation_p.D242N|CYTSB_uc002gws.2_Missense_Mutation_p.D242N|CYTSB_uc002gwv.2_Missense_Mutation_p.D161N|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D18N|CYTSB_uc002gwt.2_Missense_Mutation_p.D161N|CYTSB_uc002gwu.2_Missense_Mutation_p.D161N	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	242						nucleus					0						AGAGCTTTCCGATCTAGAGGA	0.498		NaN											0	0	0	0.008361	0	28	110				
NBR1	4077	broad.mit.edu	37	17	41343528	41343528	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:41343528A>T	uc010czd.2	+	10	1143	c.1003A>T	c.(1003-1005)ATC>TTC	p.I335F	NBR1_uc010diz.2_Missense_Mutation_p.I335F|NBR1_uc010whu.1_Missense_Mutation_p.I335F|NBR1_uc010whv.1_Missense_Mutation_p.I335F|NBR1_uc010whw.1_Missense_Mutation_p.I314F|NBR1_uc010whx.1_Missense_Mutation_p.I144F	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	335					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GTGGAATTCAATCCATGGACT	0.478		NaN											0	0	0	0.009096	0	3	11				
CACNA1G	8913	broad.mit.edu	37	17	48649340	48649340	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:48649340G>A	uc002irk.1	+	5	1060	c.688G>A	c.(688-690)GTC>ATC	p.V230I	CACNA1G_uc002iri.1_Missense_Mutation_p.V230I|CACNA1G_uc002irj.1_Missense_Mutation_p.V230I|CACNA1G_uc002irl.1_Missense_Mutation_p.V230I|CACNA1G_uc002irm.1_Missense_Mutation_p.V230I|CACNA1G_uc002irn.1_Missense_Mutation_p.V230I|CACNA1G_uc002iro.1_Missense_Mutation_p.V230I|CACNA1G_uc002irp.1_Missense_Mutation_p.V230I|CACNA1G_uc002irq.1_Missense_Mutation_p.V230I|CACNA1G_uc002irr.1_Missense_Mutation_p.V230I|CACNA1G_uc002irs.1_Missense_Mutation_p.V230I|CACNA1G_uc002irt.1_Missense_Mutation_p.V230I|CACNA1G_uc002irv.1_Missense_Mutation_p.V230I|CACNA1G_uc002irw.1_Missense_Mutation_p.V230I|CACNA1G_uc002iru.1_Missense_Mutation_p.V230I|CACNA1G_uc002irx.1_Missense_Mutation_p.V143I|CACNA1G_uc002iry.1_Missense_Mutation_p.V143I|CACNA1G_uc002irz.1_Missense_Mutation_p.V143I|CACNA1G_uc002isa.1_Missense_Mutation_p.V143I|CACNA1G_uc002isb.1_Missense_Mutation_p.V143I|CACNA1G_uc002isc.1_Missense_Mutation_p.V143I|CACNA1G_uc002isd.1_Missense_Mutation_p.V143I|CACNA1G_uc002ise.1_Missense_Mutation_p.V143I|CACNA1G_uc002isf.1_Missense_Mutation_p.V143I|CACNA1G_uc002isg.1_Missense_Mutation_p.V143I|CACNA1G_uc002ish.1_Missense_Mutation_p.V143I|CACNA1G_uc002isi.1_Missense_Mutation_p.V143I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	230	I.|Helical; Name=S5 of repeat I; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCGTCGGCGTCCAGCTGTG	0.587		NaN											0	0	0	0.016723	0	14	32				
KCNJ2	3759	broad.mit.edu	37	17	68172154	68172154	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:68172154G>A	uc010dfg.2	+	2	1375	c.974G>A	c.(973-975)CGC>CAC	p.R325H	KCNJ2_uc002jir.2_Missense_Mutation_p.R325H	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	325	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					TGGGGCCACCGCTATGAGCCT	0.493		NaN											0	0	0	0.013537	0	12	57				
ESCO1	114799	broad.mit.edu	37	18	19112474	19112474	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:19112474G>A	uc002kth.1	-	11	3269	c.2335C>T	c.(2335-2337)CGT>TGT	p.R779C	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	779					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTCTTCCGACGCATCATGCTG	0.408		NaN											0	0	0	0.008291	0	9	103				
ESCO1	114799	broad.mit.edu	37	18	19154691	19154691	+	Silent	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:19154691T>C	uc002kth.1	-	4	1048	c.114A>G	c.(112-114)AAA>AAG	p.K38K	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	38					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTGGACCTGATTTTTTTGCTA	0.338		NaN											0	0	0	0.019004	0	36	29				
DCC	1630	broad.mit.edu	37	18	50731606	50731606	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr18:50731606G>A	uc002lfe.1	+	10	2181	c.1594G>A	c.(1594-1596)GAA>AAA	p.E532K	DCC_uc010xdr.1_Missense_Mutation_p.E380K|DCC_uc010dpf.1_Missense_Mutation_p.E187K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	532	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGCCAGTAGAAAACCTGCA	0.388		NaN											0	0	0	0.01441	0	47	163				
FSTL3	10272	broad.mit.edu	37	19	681360	681360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:681360G>A	uc002lpk.1	+	4	568	c.533G>A	c.(532-534)CGG>CAG	p.R178Q	FSTL3_uc010drt.1_RNA	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	178	Follistatin-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGCCCGCGGCCACAGTCG	0.701		NaN	T	CCND1	B-CLL								0	0	0	0.006214	0	6	11				
ZNF414	84330	broad.mit.edu	37	19	8576365	8576365	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8576365C>T	uc002mkf.2	-	6	1048	c.930G>A	c.(928-930)GCG>GCA	p.A310A	ZNF414_uc002mke.3_Intron|ZNF414_uc010dwf.2_Silent_p.A299A	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN	zinc finger protein 414 isoform 2	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTCACCTGCACGCACCTGAGG	0.687		NaN											0	0	0	0.013537	0	10	21				
ADAMTS10	81794	broad.mit.edu	37	19	8665902	8665902	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8665902G>A	uc002mkj.1	-	6	994	c.720C>T	c.(718-720)TAC>TAT	p.Y240Y	ADAMTS10_uc002mkk.1_Translation_Start_Site	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	240	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGGTCTCCACGTAGCGCTCTC	0.622		NaN											0	0	0	0.021022	0	35	104				
MUC16	94025	broad.mit.edu	37	19	8996396	8996396	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:8996396C>G	uc002mkp.2	-	61	41380	c.41176G>C	c.(41176-41178)GAG>CAG	p.E13726Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E543Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13728	Extracellular (Potential).|SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCTCAGCTCCCAATACAGC	0.567		NaN											0	0	0	0.01441	0	54	108				
ZNF844	284391	broad.mit.edu	37	19	12187307	12187307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:12187307G>C	uc002mtb.2	+	4	1515	c.1372G>C	c.(1372-1374)GAT>CAT	p.D458H	ZNF844_uc010dym.1_Missense_Mutation_p.D301H	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGCCTTCAGATCTGCCTCA	0.423		NaN											0	0	0	0.009096	0	4	105				
CD97	976	broad.mit.edu	37	19	14512345	14512345	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:14512345C>T	uc002myl.2	+	10	1168	c.1045C>T	c.(1045-1047)CCC>TCC	p.P349S	CD97_uc002mym.2_Missense_Mutation_p.P300S|CD97_uc002myn.2_Missense_Mutation_p.P256S	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	349	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						GCCTAAAGGCCCCTTCACCTA	0.612		NaN											0	0	0	0.013537	0	11	71				
ZNF529	57711	broad.mit.edu	37	19	37038913	37038913	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:37038913C>T	uc002oeh.3	-	5	749	c.547G>A	c.(547-549)GAC>AAC	p.D183N	ZNF529_uc010xth.1_Missense_Mutation_p.D183N|ZNF529_uc010xti.1_Missense_Mutation_p.D165N|ZNF529_uc002oeg.3_Missense_Mutation_p.D78N	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AACTCTAAGTCACAACTGAAG	0.363		NaN											0	0	0	0.014323	0	23	24				
CYP2A6	1548	broad.mit.edu	37	19	41354273	41354273	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:41354273C>T	uc002opl.3	-	4	526	c.505G>A	c.(505-507)GAT>AAT	p.D169N	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	169					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAGGTGGGATCGATATTGGCG	0.542		NaN											0	0	0	0.00632	0	17	95				
CEACAM4	1089	broad.mit.edu	37	19	42131981	42131981	+	Missense_Mutation	SNP	C	C	T	rs118076769	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:42131981C>T	uc002orh.1	-	2	529	c.418G>A	c.(418-420)GTA>ATA	p.V140I	CEACAM4_uc010xwd.1_Missense_Mutation_p.V140I	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	140	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0						TCACGGTGTACGTGGAGCTGG	0.562		NaN											0	0	0	0.01441	0	39	199				
ZNF534	147658	broad.mit.edu	37	19	52954586	52954586	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:52954586G>A	uc002pzj.1	+	5	543	c.418G>A	c.(418-420)GTT>ATT	p.V140I	ZNF534_uc010epo.1_Missense_Mutation_p.V97I|ZNF578_uc002pzm.2_5'Flank|ZNF578_uc002pzn.2_5'Flank|ZNF578_uc002pzp.3_5'Flank|ZNF578_uc002pzo.1_5'Flank|ZNF578_uc010epp.1_5'Flank			Q76KX8	ZN534_HUMAN	SubName: Full=Putative uncharacterized protein;	Error:Variant_position_missing_in_Q76KX8_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTCCTTCCGTTTCTGCTTC	0.682		NaN											0	0	0	0.014758	0	4	8				
TPO	7173	broad.mit.edu	37	2	1497623	1497623	+	Silent	SNP	C	C	T	rs148782927	by1000genomes	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr2:1497623C>T	uc002qww.2	+	11	1909	c.1818C>T	c.(1816-1818)CCC>CCT	p.P606P	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.P549P|TPO_uc002qwr.2_Silent_p.P606P|TPO_uc002qwx.2_Silent_p.P549P|TPO_uc010yio.1_Silent_p.P433P|TPO_uc010yip.1_Silent_p.P606P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	606	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGAGACCCCCGCTGACCTGA	0.577		NaN											0	0	0	0.010729	0	11	17				
DEFB126	81623	broad.mit.edu	37	20	126332	126332	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:126332G>A	uc002wcx.2	+	2	353	c.335G>A	c.(334-336)TGA>TAA	p.*112*		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	112					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CCCACTGGTTGAACATTCCAG	0.408		NaN											0	0	0	0.011902	0	33	178				
RALGAPB	57148	broad.mit.edu	37	20	37117126	37117126	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:37117126C>T	uc002xiw.2	+	2	308	c.51C>T	c.(49-51)GGC>GGT	p.G17G	RALGAPB_uc010zvz.1_Silent_p.G17G|RALGAPB_uc002xix.2_Silent_p.G17G|RALGAPB_uc002xiy.1_Silent_p.G17G	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	17					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						ATGATCAAGGCCATACCAGTG	0.493		NaN											0	0	0	0.019004	0	31	154				
TOMM34	10953	broad.mit.edu	37	20	43572202	43572202	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:43572202G>A	uc002xmy.2	-	6	857	c.717C>T	c.(715-717)GTC>GTT	p.V239V	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	239	TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				ACTGCTTCAGGACCAAATAGC	0.493		NaN											0	0	0	0.008871	0	17	84				
SFRS15	57466	broad.mit.edu	37	21	33065763	33065763	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr21:33065763T>C	uc002ypd.2	-	12	1783	c.1357A>G	c.(1357-1359)AGA>GGA	p.R453G	SFRS15_uc002ype.2_Missense_Mutation_p.R453G|SFRS15_uc010glu.2_Missense_Mutation_p.R438G|SFRS15_uc002ypf.1_Missense_Mutation_p.R127G	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	453						nucleus	nucleotide binding|RNA binding				0						CTTCGAGATCTAGAACCAGAT	0.453		NaN											0	0	0	0.013726	0	25	11				
MN1	4330	broad.mit.edu	37	22	28193514	28193514	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr22:28193514C>T	uc003adj.2	-	1	3973	c.3018G>A	c.(3016-3018)ACG>ACA	p.T1006T		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1006							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						AGGATGGCGACGTGAGCGCCT	0.701		NaN	T	ETV6	AML|meningioma								0	0	0	0.00632	0	24	64				
MAPK11	5600	broad.mit.edu	37	22	50705688	50705688	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr22:50705688G>A	uc003bkr.2	-	5	503	c.445C>T	c.(445-447)CGG>TGG	p.R149W	MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.P129L|MAPK11_uc010haz.2_Missense_Mutation_p.R41W	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	149	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCTACCCGGTGGATGATC	0.587		NaN											0	0	0	0.001984	0	4	22				
SLC6A1	6529	broad.mit.edu	37	3	11058951	11058951	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:11058951C>T	uc010hdq.2	+	3	465	c.54C>T	c.(52-54)AGC>AGT	p.S18S		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	18	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGAGGTCAGCGAGGCCCCTG	0.637		NaN											0	0	0	0.013537	0	12	65				
NUP210	23225	broad.mit.edu	37	3	13376966	13376966	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13376966C>T	uc003bxv.1	-	28	3914	c.3831G>A	c.(3829-3831)GAG>GAA	p.E1277E		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1277	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGACTTGGATCTCATCCGAGA	0.627		NaN											0	0	0	0.017118	0	25	184				
NUP210	23225	broad.mit.edu	37	3	13376980	13376980	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13376980C>T	uc003bxv.1	-	28	3900	c.3817G>A	c.(3817-3819)GAA>AAA	p.E1273K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1273	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TCCGAGAGTTCTCTGGCCAGG	0.632		NaN											0	0	0	0.024334	0	15	164				
NUP210	23225	broad.mit.edu	37	3	13377022	13377022	+	Missense_Mutation	SNP	C	C	T	rs146409293		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377022C>T	uc003bxv.1	-	28	3858	c.3775G>A	c.(3775-3777)GCT>ACT	p.A1259T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1259	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGGTCCACAGCCTTGACCACC	0.617		NaN											0	0	0	0.013537	0	9	110				
NUP210	23225	broad.mit.edu	37	3	13377029	13377029	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377029C>T	uc003bxv.1	-	28	3851	c.3768G>A	c.(3766-3768)GTG>GTA	p.V1256V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1256	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CAGCCTTGACCACCACCCTCA	0.602		NaN											0	0	0	0.008291	0	8	112				
NUP210	23225	broad.mit.edu	37	3	13377074	13377074	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13377074C>T	uc003bxv.1	-	28	3806	c.3723G>A	c.(3721-3723)ATG>ATA	p.M1241I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1241	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CGAGCACGTTCATGGCAAAGT	0.602		NaN											0	0	0	0.010729	0	9	99				
PTPRG	5793	broad.mit.edu	37	3	61989042	61989042	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:61989042C>T	uc003dlb.2	+	4	1109	c.390C>T	c.(388-390)GAC>GAT	p.D130D	PTPRG_uc003dlc.2_Silent_p.D130D	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	130	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTCTGAAAGACGACTATTTTG	0.438		NaN											0	0	0	0.007291	0	22	72				
FAM19A1	407738	broad.mit.edu	37	3	68466476	68466476	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:68466476G>A	uc003dnd.2	+	3	381	c.165G>A	c.(163-165)AAG>AAA	p.K55K	FAM19A1_uc003dne.2_Silent_p.K55K|FAM19A1_uc003dng.2_Silent_p.K55K	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine	55						endoplasmic reticulum|extracellular region				ovary(1)	1		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GTTGTAACAAGAATCGCATTG	0.468		NaN											0	0	0	0.00632	0	27	41				
MORC1	27136	broad.mit.edu	37	3	108682322	108682322	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:108682322G>C	uc003dxl.2	-	27	2825	c.2738C>G	c.(2737-2739)TCT>TGT	p.S913C	MORC1_uc011bhn.1_Missense_Mutation_p.S892C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	913	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTTATCCTCAGAGATTTTTCT	0.294		NaN											0	0	0	0.01441	0	38	55				
C3orf15	89876	broad.mit.edu	37	3	119445049	119445049	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:119445049G>A	uc003ede.3	+	7	791	c.714G>A	c.(712-714)GTG>GTA	p.V238V	C3orf15_uc010hqy.1_Silent_p.V238V|C3orf15_uc010hqz.2_Silent_p.V176V|C3orf15_uc011bjd.1_Silent_p.V112V|C3orf15_uc011bje.1_Silent_p.V218V|C3orf15_uc010hra.1_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	238						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AAGCTGAGGTGGAGATGATAG	0.532		NaN											0	0	0	0.024245	0	14	28				
ZIC1	7545	broad.mit.edu	37	3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:147127954G>A	uc003ewe.2	+	1	774	c.55G>A	c.(55-57)GCG>ACG	p.A19T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	19					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A19A(1)		ovary(1)|central_nervous_system(1)	2						CACCTTTGGCGCGTCCCGCCA	0.741		NaN											0	0	0	0.020292	0	12	37				
ARPM1	84517	broad.mit.edu	37	3	169485270	169485270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:169485270C>T	uc003ffs.1	-	2	1444	c.1069G>A	c.(1069-1071)GCA>ACA	p.A357T	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	357						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTAAATTCTGCAGCAGTGATC	0.398		NaN											0	0	0	0.00499	0	14	195				
TP63	8626	broad.mit.edu	37	3	189455639	189455639	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:189455639T>C	uc003fry.2	+	2	262	c.173T>C	c.(172-174)ATC>ACC	p.I58T	TP63_uc003frx.2_Missense_Mutation_p.I58T|TP63_uc003frz.2_Missense_Mutation_p.I58T|TP63_uc010hzc.1_Missense_Mutation_p.I58T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	58	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCATATCTGGGATTTT	0.403		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			0	0	0	0.028581	0	14	51				
CRMP1	1400	broad.mit.edu	37	4	5837699	5837699	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:5837699G>A	uc003gip.2	-	12	1325	c.1224C>T	c.(1222-1224)GAC>GAT	p.D408D	CRMP1_uc003gin.1_Silent_p.D320D|CRMP1_uc003giq.2_Silent_p.D408D|CRMP1_uc003gir.2_Silent_p.D403D|CRMP1_uc003gis.2_Silent_p.D522D	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	408					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		AGATGACCACGTCGGCATCCG	0.517		NaN											0	0	0	0.015359	0	33	84				
LGI2	55203	broad.mit.edu	37	4	25005321	25005321	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:25005321C>A	uc003grf.2	-	8	1489	c.1390G>T	c.(1390-1392)GCC>TCC	p.A464S		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464	EAR 6.					extracellular region					0		Breast(46;0.173)				AGGGTCATGGCCCCCCGGGAT	0.512		NaN											1	0	3.00307e-07	0.008361	3.19434e-07	27	146				
TBC1D1	23216	broad.mit.edu	37	4	38016441	38016441	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:38016441G>A	uc003gtb.2	+	3	1072	c.729G>A	c.(727-729)TCG>TCA	p.S243S	TBC1D1_uc011byd.1_Silent_p.S243S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S114S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	243						nucleus	Rab GTPase activator activity			ovary(1)	1						GCCTGCGCTCGCTGGCCTTTA	0.672		NaN											0	0	0	0.001984	0	7	7				
FRYL	285527	broad.mit.edu	37	4	48549697	48549697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:48549697G>A	uc003gyh.1	-	41	5583	c.4978C>T	c.(4978-4980)CGA>TGA	p.R1660*	FRYL_uc003gyg.1_Nonsense_Mutation_p.R356*|FRYL_uc003gyi.1_Nonsense_Mutation_p.R549*|FRYL_uc003gyj.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1660					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCAACAGTTCGGATGTTACTA	0.418		NaN											0	0	0	0.013537	0	12	37				
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:55140704G>A	uc003han.3	+	11	1896	c.1565G>A	c.(1564-1566)CGT>CAT	p.R522H	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R416H|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	522	Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.009535	0	27	83				
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:186545479G>A	uc003iyl.2	-	13	1950	c.1092C>T	c.(1090-1092)AAC>AAT	p.N364N	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.N464N|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.N268N|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.N478N|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517		NaN											0	0	0	0.009096	0	3	55				
SLC9A3	6550	broad.mit.edu	37	5	482184	482184	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:482184C>T	uc003jbe.2	-	8	1557	c.1445G>A	c.(1444-1446)CGC>CAC	p.R482H	SLC9A3_uc011clx.1_Missense_Mutation_p.R473H	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	482	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACTTACGCGCCCGTGCAG	0.692		NaN											0	0	0	0.014758	0	3	25				
SLC9A3	6550	broad.mit.edu	37	5	484634	484634	+	Splice_Site	SNP	C	C	T	rs144524702		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:484634C>T	uc003jbe.2	-	5	1044	c.932_splice	c.e5+1	p.A311_splice	SLC9A3_uc011clx.1_Splice_Site_p.A311_splice	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen							cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGGGACTCACGCGAGGATGG	0.642		NaN											0	0	0	0.010504	0	17	31				
SLC6A18	348932	broad.mit.edu	37	5	1232401	1232401	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:1232401C>T	uc003jby.1	+	2	351	c.228C>T	c.(226-228)CTC>CTT	p.L76L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	76	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGTCGAGCTCGCCATCGGCC	0.667		NaN											0	0	0	0.014758	0	3	38				
MAP3K1	4214	broad.mit.edu	37	5	56177590	56177590	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:56177590C>T	uc003jqw.3	+	14	3064	c.2563C>T	c.(2563-2565)CGT>TGT	p.R855C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	855					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GATGCGTCGCCGTTTGATGGC	0.478		NaN											0	0	0	0.010729	0	8	80				
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	G	T	rs138372925		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:126781188G>T	uc003kuh.3	+	21	2893	c.2531G>T	c.(2530-2532)CGA>CTA	p.R844L	MEGF10_uc003kui.3_Missense_Mutation_p.R844L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	844	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438		NaN											1	0	1.51926e-22	0.01441	1.68024e-22	39	45				
KDM3B	51780	broad.mit.edu	37	5	137761242	137761242	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:137761242A>G	uc003lcy.1	+	17	4582	c.4382A>G	c.(4381-4383)GAT>GGT	p.D1461G	KDM3B_uc010jew.1_Missense_Mutation_p.D1117G|KDM3B_uc011cys.1_Missense_Mutation_p.D493G	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1461					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AAAGTTCGGGATTTCTGGGAT	0.453		NaN											0	0	0	0.01441	0	51	43				
PCDHGA2	56113	broad.mit.edu	37	5	140719540	140719540	+	Silent	SNP	C	C	T	rs149528645		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140719540C>T	uc003ljk.1	+	1	1187	c.1002C>T	c.(1000-1002)ATC>ATT	p.I334I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.I334I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	334	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTTATCGTCACGGTTC	0.428		NaN											0	0	0	0.013114	0	41	135				
PCDHGB1	56104	broad.mit.edu	37	5	140730581	140730581	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140730581G>A	uc003ljo.1	+	1	754	c.754G>A	c.(754-756)GTA>ATA	p.V252I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.V252I	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	252	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAAACGTACCGTGGGG	0.522		NaN											0	0	0	0.007413	0	17	66				
PCDHGA8	9708	broad.mit.edu	37	5	140774130	140774130	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr5:140774130C>T	uc003lkd.1	+	1	2648	c.1750C>T	c.(1750-1752)CGT>TGT	p.R584C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R584C	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	584	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGCAGAGCGTGGCTACCT	0.672		NaN											0	0	0	0.01441	0	47	146				
KIAA0319	9856	broad.mit.edu	37	6	24596319	24596319	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:24596319A>G	uc011djo.1	-	3	820	c.583T>C	c.(583-585)TTC>CTC	p.F195L	KIAA0319_uc011djp.1_Missense_Mutation_p.F150L|KIAA0319_uc003neh.1_Missense_Mutation_p.F195L|KIAA0319_uc011djq.1_Missense_Mutation_p.F186L|KIAA0319_uc011djr.1_Missense_Mutation_p.F195L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	195	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						GAGGAGTTGAAGGCCCCCTCG	0.632		NaN											0	0	0	0.006122	0	13	23				
HIST1H1E	3008	broad.mit.edu	37	6	26156830	26156830	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:26156830A>G	uc003ngq.2	+	1	272	c.212A>G	c.(211-213)TAT>TGT	p.Y71C	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	71	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						GCCGCTGGCTATGACGTGGAG	0.627		NaN											0	0	0	0.006122	0	15	30				
MUC21	394263	broad.mit.edu	37	6	30954151	30954151	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:30954151G>A	uc003nsh.2	+	2	450	c.199G>A	c.(199-201)GTG>ATG	p.V67M	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	67	Ser-rich.|3.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AGGGTCCAGCGTGACCTCCAA	0.572		NaN											0	0	0	0.01441	0	68	180				
RNF5	6048	broad.mit.edu	37	6	32146400	32146400	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:32146400G>T	uc003oaj.3	+	1	239	c.112G>T	c.(112-114)GTG>TTG	p.V38L	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	38	RING-type.				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCGGGAAGCTGTGGTCAGTGT	0.612		NaN											1	0	1.57019e-19	0.007835	1.71387e-19	29	97				
B3GALT4	8705	broad.mit.edu	37	6	33245984	33245984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:33245984C>A	uc003odr.2	+	1	1068	c.788C>A	c.(787-789)TCA>TAA	p.S263*		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	263	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CCCTATGCCTCAGGCACGGGG	0.637		NaN											1	0	2.47511e-08	0.008361	2.66673e-08	30	39				
LEMD2	221496	broad.mit.edu	37	6	33740447	33740447	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:33740447C>G	uc011drm.1	-	9	1483	c.1470G>C	c.(1468-1470)TGG>TGC	p.W490C	LEMD2_uc010jvg.2_Missense_Mutation_p.W199C|LEMD2_uc011drl.1_Missense_Mutation_p.W188C|LEMD2_uc003ofe.2_Missense_Mutation_p.W188C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	490						integral to nuclear inner membrane				central_nervous_system(1)	1						TAGTCCATCTCCACACCAGCA	0.622		NaN											0	0	0	0.027894	0	35	37				
FAM135A	57579	broad.mit.edu	37	6	71234834	71234834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:71234834C>T	uc003pfj.2	+	13	2180	c.2047C>T	c.(2047-2049)CGA>TGA	p.R683*	FAM135A_uc003pfi.2_Nonsense_Mutation_p.R487*|FAM135A_uc003pfh.2_Nonsense_Mutation_p.R470*|FAM135A_uc003pfl.2_Nonsense_Mutation_p.R350*|FAM135A_uc003pfn.2_Nonsense_Mutation_p.R113*|FAM135A_uc003pfo.1_Nonsense_Mutation_p.R54*	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	683										central_nervous_system(1)	1						GACAGAGCTTCGACAAGAGGA	0.353		NaN											0	0	0	0.023175	0	34	42				
LAMA2	3908	broad.mit.edu	37	6	129380937	129380937	+	Missense_Mutation	SNP	C	C	T	rs140199131		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:129380937C>T	uc003qbn.2	+	3	397	c.292C>T	c.(292-294)CCG>TCG	p.P98S	LAMA2_uc003qbo.2_Missense_Mutation_p.P98S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	98	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAGAGACACCCGATTACAAA	0.328		NaN											0	0	0	0.004482	0	9	44				
ALDH8A1	64577	broad.mit.edu	37	6	135263702	135263702	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:135263702C>T	uc003qew.2	-	3	340	c.287G>A	c.(286-288)GGG>GAG	p.G96E	ALDH8A1_uc003qex.2_Missense_Mutation_p.G96E|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G96E	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	96					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TAAGGTTTTCCCTGTAAGAAG	0.522		NaN											0	0	0	0.007413	0	18	573				
PLEKHG1	57480	broad.mit.edu	37	6	151055093	151055093	+	Silent	SNP	A	A	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:151055093A>G	uc003qny.1	+	3	588	c.276A>G	c.(274-276)AGA>AGG	p.R92R	PLEKHG1_uc011eel.1_Silent_p.R132R|PLEKHG1_uc011eem.1_Silent_p.R151R|PLEKHG1_uc003qnz.2_Silent_p.R92R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	92					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGCAGTGGAGAGTGGACTCAA	0.602		NaN											0	0	0	0.001984	0	5	31				
SERAC1	84947	broad.mit.edu	37	6	158564168	158564168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:158564168G>A	uc003qrc.2	-	8	800	c.658C>T	c.(658-660)CAA>TAA	p.Q220*	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	220					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCTCTGTTTGAGGTAAGGAA	0.373		NaN											0	0	0	0.015359	0	27	52				
PARK2	5071	broad.mit.edu	37	6	162864342	162864342	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:162864342C>T	uc003qtx.3	-	2	305	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.Q57Q|PARK2_uc003qtz.3_Silent_p.Q57Q|PARK2_uc010kke.1_Silent_p.Q57Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	57	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGAGACTCACCTGCACAGTCC	0.567		NaN											0	0	0	0.028581	0	15	53				
FZD9	8326	broad.mit.edu	37	7	72850005	72850005	+	Silent	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:72850005C>T	uc003tyb.2	+	1	1897	c.1668C>T	c.(1666-1668)CGC>CGT	p.R556R		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	556	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCCTGCCGCGCCCCCGGGA	0.652		NaN											0	0	0	0.00308	0	7	51				
CYP3A7	1551	broad.mit.edu	37	7	99314836	99314836	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:99314836C>T	uc003uru.2	-	6	590	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R162R(1)		ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTCTGCTTCCCGCCTCAGATT	0.502		NaN											0	0	0	0.025465	0	26	104				
MUC17	140453	broad.mit.edu	37	7	100686998	100686998	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:100686998C>T	uc003uxp.1	+	3	12354	c.12301C>T	c.(12301-12303)CGG>TGG	p.R4101W	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4101	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCAGCACACGGACCACTTC	0.562		NaN											0	0	0	0.007291	0	28	102				
AASS	10157	broad.mit.edu	37	7	121741434	121741434	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:121741434C>T	uc003vka.2	-	12	1493	c.1397G>A	c.(1396-1398)CGG>CAG	p.R466Q	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R466Q|AASS_uc011knw.1_5'UTR	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	466					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCTGCTCTCCCGGAGTGTCTG	0.318		NaN											0	0	0	0.014323	0	17	59				
ZNF786	136051	broad.mit.edu	37	7	148768943	148768943	+	Silent	SNP	T	T	C			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:148768943T>C	uc003wfh.2	-	4	1058	c.921A>G	c.(919-921)CCA>CCG	p.P307P	ZNF786_uc011kuk.1_Silent_p.P270P|ZNF786_uc003wfi.2_Silent_p.P221P	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGTCCACTGGGAGGGAGC	0.697		NaN											0	0	0	0.006122	0	15	22				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:12957624C>G	uc003wwm.2	-	9	2666	c.2222G>C	c.(2221-2223)AGC>ACC	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCTGCTGCTGCTGGTCTGCGT	0.627		NaN											0	0	0	0.009096	0	3	90				
MTMR7	9108	broad.mit.edu	37	8	17157445	17157445	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:17157445C>T	uc003wxm.2	-	14	2148	c.1909G>A	c.(1909-1911)GGT>AGT	p.G637S	MTMR7_uc011kya.1_Missense_Mutation_p.G271S|MTMR7_uc011kyb.1_Missense_Mutation_p.G228S	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	637							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		TGCTCACCACCACTTGGAGAC	0.498		NaN											0	0	0	0.01441	0	70	66				
FZD3	7976	broad.mit.edu	37	8	28385479	28385479	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:28385479G>T	uc003xgx.2	+	5	1680	c.1202G>T	c.(1201-1203)CGA>CTA	p.R401L	FZD3_uc010lvb.2_Missense_Mutation_p.R401L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	401	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AACAGAGTTCGAATTGAGATT	0.403		NaN											1	0	1.17611e-34	0.01441	1.3094e-34	82	83				
FUT10	84750	broad.mit.edu	37	8	33247281	33247281	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:33247281G>A	uc003xje.2	-	4	768	c.412C>T	c.(412-414)CGG>TGG	p.R138W	FUT10_uc003xjc.2_Missense_Mutation_p.R145W|FUT10_uc003xjd.2_Missense_Mutation_p.R110W|FUT10_uc011lbi.1_Missense_Mutation_p.R188W|FUT10_uc003xjf.2_Missense_Mutation_p.R76W|FUT10_uc003xjg.2_Missense_Mutation_p.R110W|FUT10_uc003xjh.2_Missense_Mutation_p.R138W	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	138	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGGGCTTTCCGAGGCAGAGGT	0.388		NaN											0	0	0	0.007835	0	37	71				
PXDNL	137902	broad.mit.edu	37	8	52384861	52384861	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:52384861C>A	uc003xqu.3	-	8	799	c.698G>T	c.(697-699)AGC>ATC	p.S233I		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	233	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATTCGGGGGCTCTCTGCAAC	0.408		NaN											1	0	8.34094e-07	0.008871	8.70585e-07	17	133				
VPS13B	157680	broad.mit.edu	37	8	100865842	100865842	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:100865842G>A	uc003yiv.2	+	56	10411	c.10300G>A	c.(10300-10302)GAG>AAG	p.E3434K	VPS13B_uc003yiw.2_Missense_Mutation_p.E3409K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3434					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGGGGAAGAGCCTGTGGC	0.527		NaN											0	0	0	0.01441	0	45	58				
PKHD1L1	93035	broad.mit.edu	37	8	110498987	110498987	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:110498987G>A	uc003yne.2	+	59	9921	c.9817G>A	c.(9817-9819)GAG>AAG	p.E3273K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3273	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTTGGTCTGAGGACTCTTT	0.423		NaN								HNSCC(38;0.096)			0	0	0	0.01441	0	59	336				
CSMD3	114788	broad.mit.edu	37	8	113694839	113694839	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:113694839G>A	uc003ynu.2	-	16	2668	c.2509C>T	c.(2509-2511)CCT>TCT	p.P837S	CSMD3_uc003yns.2_Missense_Mutation_p.P109S|CSMD3_uc003ynt.2_Missense_Mutation_p.P797S|CSMD3_uc011lhx.1_Missense_Mutation_p.P733S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	837	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGTATTCCAGGATCAGGGCAT	0.358		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.007413	0	15	164				
C8orf85	441376	broad.mit.edu	37	8	117950663	117950663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:117950663C>T	uc003yof.2	+	1	200	c.181C>T	c.(181-183)CGA>TGA	p.R61*		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	61	Ala/Arg-rich.										0						GGACCTCAGACGACGGCTGAC	0.607		NaN											0	0	0	0.014758	0	4	35				
FER1L6	654463	broad.mit.edu	37	8	125082841	125082841	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:125082841C>T	uc003yqw.2	+	30	4172	c.3966_splice	c.e30+2	p.K1322_splice	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAATTTAAGGCAGGTTCCATT	0.418		NaN											0	0	0	0.027894	0	33	109				
FLJ43860	389690	broad.mit.edu	37	8	142481169	142481169	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr8:142481169C>G	uc003ywi.2	-	16	2073	c.1992G>C	c.(1990-1992)TTG>TTC	p.L664F	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	664							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGTGGCACATCAAGAGCTGGT	0.592		NaN											0	0	0	0.01441	0	77	338				
C9orf46	55848	broad.mit.edu	37	9	5431965	5431965	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:5431965A>T	uc003zjc.2	-	3	217	c.13T>A	c.(13-15)TTT>ATT	p.F5I	C9orf46_uc003zjd.2_Missense_Mutation_p.F5I	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	hypothetical protein LOC55848	5						integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)		GATTTTGAAAATATAAACCCC	0.313		NaN											0	0	0	0.021553	0	5	5				
RUSC2	9853	broad.mit.edu	37	9	35547012	35547012	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:35547012G>A	uc003zww.2	+	2	749	c.494G>A	c.(493-495)CGG>CAG	p.R165Q	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R165Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	165						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCAGTCGGGCTGGAGTG	0.622		NaN											0	0	0	0.016522	0	22	69				
NOL8	55035	broad.mit.edu	37	9	95081520	95081520	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:95081520C>T	uc004arv.2	-	5	737	c.400G>A	c.(400-402)GAA>AAA	p.E134K	NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E66K|NOL8_uc004arx.2_Missense_Mutation_p.E134K	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	134					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						CCTGGCACTTCTGTCCCTGGC	0.463		NaN											0	0	0	0.016723	0	12	30				
NOTCH1	4851	broad.mit.edu	37	9	139399897	139399897	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr9:139399897T>A	uc004chz.2	-	25	4451	c.4451A>T	c.(4450-4452)AAT>ATT	p.N1484I	NOTCH1_uc004cia.1_Missense_Mutation_p.N714I	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1484	Extracellular (Potential).|LNR 1.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGGGGTCATTGAAGTTGAG	0.622		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	0.020292	0	9	36				
CLCN4	1183	broad.mit.edu	37	X	10188760	10188760	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chrX:10188760G>A	uc004csy.3	+	12	2465	c.2035G>A	c.(2035-2037)GAA>AAA	p.E679K	CLCN4_uc011mid.1_Missense_Mutation_p.E585K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	679	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTTCACGGAGGAACCCCCCGA	0.567		NaN											0	0	0	0.01441	0	109	35				
XAGE5	170627	broad.mit.edu	37	X	52844174	52844174	+	Silent	SNP	C	C	T	rs146352090		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chrX:52844174C>T	uc004drd.1	+	4	302	c.237C>T	c.(235-237)TGC>TGT	p.C79C		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	79										ovary(1)	1						GGGATGAATGCGGAGATAGTC	0.438		NaN											0	0	0	0.008361	0	26	47				
C8A	731	broad.mit.edu	37	1	57373628	57373628	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:57373628G>A	uc001cyo.2	+	9	1355	c.1223_splice	c.e9-1	p.E408_splice		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CTTGATGGCAGAAAGGGCCAG	0.488		NaN											0	0	0	0.049695	0	14	38				
OR6N2	81442	broad.mit.edu	37	1	158746645	158746645	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:158746645G>A	uc010pir.1	-	1	781	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TTCTTTAGCCGCACATACATG	0.433		NaN											0	0	0	0.09319	0	12	38				
DNM3	26052	broad.mit.edu	37	1	171890908	171890908	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:171890908C>T	uc001gie.2	+	2	358	c.182C>T	c.(181-183)TCG>TTG	p.S61L	DNM3_uc001gid.3_Missense_Mutation_p.S61L|DNM3_uc009wwb.2_Missense_Mutation_p.S61L|DNM3_uc001gif.2_Missense_Mutation_p.S61L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	61					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CCTCGAGGGTCGGGCATTGTA	0.433		NaN											0	0	0	0.080935	0	9	10				
PROX1	5629	broad.mit.edu	37	1	214184960	214184960	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr1:214184960A>C	uc001hkh.2	+	4	2202	c.1930A>C	c.(1930-1932)AAC>CAC	p.N644H		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	644	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGCCATCAACGATGGGGT	0.443		NaN											0	0	0	0.139131	0	64	8				
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:37430773G>A	uc001iza.1	+	7	879	c.780G>A	c.(778-780)ACG>ACA	p.T260T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CACCTGACACGGCTGAAAGCT	0.493		NaN											0	0	0	0.115264	0	3	51				
KIF11	3832	broad.mit.edu	37	10	94405356	94405356	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:94405356C>G	uc001kic.2	+	18	2812	c.2504C>G	c.(2503-2505)TCT>TGT	p.S835C	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	835					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						CAGTGGGTATCTTCCTTAAAT	0.343		NaN											0	0	0	0.0333	0	14	20				
PGAM1	5223	broad.mit.edu	37	10	99190742	99190742	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:99190742C>G	uc001knh.2	+	3	483	c.445C>G	c.(445-447)CAG>GAG	p.Q149E	PGAM1_uc009xvo.2_Intron|PGAM1_uc010qov.1_Missense_Mutation_p.Q134E	NM_002629	NP_002620	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1	149					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding				0		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CACAGAAGATCAGCTACCCTC	0.433		NaN											0	0	0	0.0918	0	15	28				
SEC23IP	11196	broad.mit.edu	37	10	121663630	121663630	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr10:121663630G>A	uc001leu.1	+	4	1014	c.942G>A	c.(940-942)ACG>ACA	p.T314T	SEC23IP_uc010qtc.1_Silent_p.T103T	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	314	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTCTTGGCACGGATGGAGGGC	0.453		NaN											0	0	0	0.014758	0	4	53				
KRTAP5-5	439915	broad.mit.edu	37	11	1651442	1651442	+	Silent	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:1651442G>T	uc001lty.2	+	1	410	c.372G>T	c.(370-372)GGG>GGT	p.G124G		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.692		NaN											1	0	0.00116845	0.021553	0.00122948	3	21				
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:1651459G>T	uc001lty.2	+	1	427	c.389G>T	c.(388-390)GGC>GTC	p.G130V		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692		NaN											1	0	0.00116845	0.021553	0.00122948	3	18				
NUP98	4928	broad.mit.edu	37	11	3794864	3794864	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:3794864C>G	uc001lyh.2	-	6	892	c.601G>C	c.(601-603)GAG>CAG	p.E201Q	NUP98_uc001lyi.2_Missense_Mutation_p.E201Q|NUP98_uc001lyj.1_Missense_Mutation_p.E201Q|NUP98_uc001lyk.1_Missense_Mutation_p.E201Q|NUP98_uc010qxv.1_Missense_Mutation_p.E164Q	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	201	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTACTGACCTCTAGTGACTTG	0.343		NaN	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								0	0	0	0.105934	0	11	8				
OR52B6	340980	broad.mit.edu	37	11	5602231	5602231	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:5602231A>C	uc010qzi.1	+	1	125	c.125A>C	c.(124-126)CAA>CCA	p.Q42P	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	42	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGGAGCAACTACATATC	0.502		NaN											0	0	0	0.038147	0	7	12				
OR5A2	219981	broad.mit.edu	37	11	59189895	59189895	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:59189895A>C	uc010rkt.1	-	1	532	c.532T>G	c.(532-534)TTT>GTT	p.F178V		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCACAGAAAAAGTGGTTGATC	0.483		NaN											0	0	0	0.009096	0	3	65				
OR6X1	390260	broad.mit.edu	37	11	123624493	123624493	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:123624493A>G	uc010rzy.1	-	1	734	c.734T>C	c.(733-735)GTT>GCT	p.V245A		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGGGAGACAACTGTCAGGTG	0.453		NaN											0	0	0	0.09319	0	13	22				
SLC37A2	219855	broad.mit.edu	37	11	124952197	124952197	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr11:124952197C>A	uc001qbn.2	+	10	1194	c.943C>A	c.(943-945)CTC>ATC	p.L315I	SLC37A2_uc010sau.1_Missense_Mutation_p.L315I|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	315	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTACACCTTCCTCTACTGGCT	0.587		NaN											1	0	9.45814e-24	0.074837	1.06688e-23	30	48				
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Silent	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:11506602T>C	uc001qzw.1	-	3	472	c.435A>G	c.(433-435)GGA>GGG	p.G145G	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607		NaN											0	0	0	0.009096	0	4	144				
BCL2L14	79370	broad.mit.edu	37	12	12232321	12232321	+	Missense_Mutation	SNP	G	G	A	rs142096906	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:12232321G>A	uc001rac.2	+	2	283	c.82G>A	c.(82-84)GCC>ACC	p.A28T	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Missense_Mutation_p.A28T|BCL2L14_uc001rae.2_Missense_Mutation_p.A28T	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	28					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CAAAATCCTCGCCTACTACAC	0.488		NaN											0	0	0	0.083992	0	22	29				
PAN2	9924	broad.mit.edu	37	12	56716212	56716212	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr12:56716212C>T	uc001skx.2	-	19	3077	c.2704G>A	c.(2704-2706)GAT>AAT	p.D902N	PAN2_uc001skw.2_Missense_Mutation_p.D50N|PAN2_uc001skz.2_Missense_Mutation_p.D901N|PAN2_uc001sky.2_Missense_Mutation_p.D898N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	902					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CTAACCTTATCAATAGGTTCA	0.408		NaN											0	0	0	0.132662	0	12	42				
MTMR6	9107	broad.mit.edu	37	13	25840079	25840079	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:25840079C>T	uc001uqf.3	-	5	788	c.469G>A	c.(469-471)GAA>AAA	p.E157K	MTMR6_uc001uqe.1_Missense_Mutation_p.E157K	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	157	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGTAAGTTTCACAAATCTGT	0.353		NaN											0	0	0	0.09319	0	11	17				
AKAP11	11215	broad.mit.edu	37	13	42876628	42876628	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:42876628C>G	uc001uys.1	+	8	3921	c.3746C>G	c.(3745-3747)TCA>TGA	p.S1249*		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1249					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAAACCCCTCAGACGAAAAT	0.363		NaN											0	0	0	0.038395	0	16	5				
IRS2	8660	broad.mit.edu	37	13	110436504	110436504	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr13:110436504C>T	uc001vqv.2	-	1	2411	c.1897G>A	c.(1897-1899)GGA>AGA	p.G633R		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	633					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TCGATGTCTCCGTAGTCCTCT	0.711		NaN											0	0	0	0.047766	0	5	5				
HOMEZ	57594	broad.mit.edu	37	14	23746018	23746018	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:23746018G>T	uc001wja.2	-	2	567	c.419C>A	c.(418-420)TCT>TAT	p.S140Y	HOMEZ_uc001wjb.2_Missense_Mutation_p.S142Y	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGAGTAAAAGAGAGAAGGGA	0.537		NaN											1	0	1.58521e-26	0.080422	1.80253e-26	34	89				
TGM1	7051	broad.mit.edu	37	14	24731538	24731538	+	Silent	SNP	G	G	A	rs150913268	by1000genomes	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:24731538G>A	uc001wod.2	-	2	145	c.21C>T	c.(19-21)TCC>TCT	p.S7S	TGM1_uc010tog.1_5'UTR	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	7	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGCCCACATCGGAACGTGGCC	0.632		NaN											0	0	0	0.146539	0	15	47				
GNPNAT1	64841	broad.mit.edu	37	14	53251332	53251332	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:53251332G>C	uc001xab.2	-	2	292	c.37C>G	c.(37-39)CTA>GTA	p.L13V		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	13					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity				0	Breast(41;0.176)					TCTTTGAGTAGACTTGGGTCA	0.363		NaN											0	0	0	0.038395	0	13	18				
SMOC1	64093	broad.mit.edu	37	14	70418941	70418941	+	Silent	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:70418941C>A	uc001xls.1	+	2	439	c.186C>A	c.(184-186)TCC>TCA	p.S62S	SMOC1_uc001xlt.1_Silent_p.S62S	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	62	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATGGCAGGTCCTACGAGTCCA	0.562		NaN											1	0	9.62906e-15	0.086207	1.07754e-14	32	75				
ADAM20	8748	broad.mit.edu	37	14	70991613	70991613	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:70991613G>A	uc001xme.2	-	2	257	c.12C>T	c.(10-12)CTC>CTT	p.L4L		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	Error:Variant_position_missing_in_O43506_after_alignment					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCCTGGTGGAGCTGGACCA	0.522		NaN											0	0	0	0.139131	0	67	46				
MTA1	9112	broad.mit.edu	37	14	105936438	105936438	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr14:105936438G>C	uc001yqx.2	+	21	2221	c.2034G>C	c.(2032-2034)AAG>AAC	p.K678N	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.K443N|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	678					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGGAAACCAAGCGTGCTGCCC	0.716		NaN											0	0	0	0.116897	0	21	48				
HERC2	8924	broad.mit.edu	37	15	28458889	28458889	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr15:28458889G>A	uc001zbj.2	-	42	6891	c.6785C>T	c.(6784-6786)CCA>CTA	p.P2262L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2262					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCACCTACTGGTTTCAGCTG	0.478		NaN											0	0	0	0.146539	0	14	22				
MYO5A	4644	broad.mit.edu	37	15	52632551	52632551	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr15:52632551C>T	uc002aby.2	-	32	4325	c.4081G>A	c.(4081-4083)GAG>AAG	p.E1361K	MYO5A_uc002abx.3_Missense_Mutation_p.E1334K|MYO5A_uc010ugd.1_Missense_Mutation_p.E83K|MYO5A_uc002abz.1_RNA|MYO5A_uc002aca.1_Missense_Mutation_p.E113K|MYO5A_uc002acb.1_Missense_Mutation_p.E86K|MYO5A_uc002acc.1_Missense_Mutation_p.E110K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1361	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCTCATTCTCATGGCTCCTC	0.632		NaN											0	0	0	0.139131	0	55	411				
CACNG3	10368	broad.mit.edu	37	16	24268126	24268126	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:24268126C>T	uc002dmf.2	+	1	1251	c.51C>T	c.(49-51)GCC>GCT	p.A17A		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	17	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CTGTAGGAGCCTTTGCCGCTT	0.473		NaN											0	0	0	0.043863	0	17	801				
SEZ6L2	26470	broad.mit.edu	37	16	29883848	29883848	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:29883848C>G	uc002duq.3	-	15	2729	c.2489_splice	c.e15-1	p.V830_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.V773_splice|SEZ6L2_uc002dur.3_Splice_Site_p.V760_splice|SEZ6L2_uc002dus.3_Splice_Site_p.V729_splice|SEZ6L2_uc010vec.1_Splice_Site_p.V843_splice|SEZ6L2_uc010ved.1_Splice_Site_p.V799_splice	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform							endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GTCTGGGTCACTACAGGAGGA	0.657		NaN											0	0	0	0.062417	0	15	64				
DOC2A	8448	broad.mit.edu	37	16	30018508	30018508	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30018508C>T	uc002dvm.2	-	6	740	c.640G>A	c.(640-642)GAG>AAG	p.E214K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E214K|DOC2A_uc002dvn.2_Missense_Mutation_p.E214K|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E214K|DOC2A_uc002dvp.2_Missense_Mutation_p.E214K|DOC2A_uc002dvq.2_Missense_Mutation_p.E214K	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	214					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						ACCTGGCGCTCGAGGCAGATG	0.627		NaN											0	0	0	0.09319	0	9	229				
ZNF768	79724	broad.mit.edu	37	16	30536523	30536523	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30536523C>T	uc002dyk.3	-	2	1114	c.938G>A	c.(937-939)GGC>GAC	p.G313D	ZNF768_uc010vex.1_Missense_Mutation_p.G282D|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.G282D	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	313					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GGGCCGCTCGCCAGTGTGGGT	0.607		NaN											0	0	0	0.038395	0	14	49				
ZNF768	79724	broad.mit.edu	37	16	30537018	30537018	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30537018C>A	uc002dyk.3	-	2	619	c.443G>T	c.(442-444)AGA>ATA	p.R148I	ZNF768_uc010vex.1_Missense_Mutation_p.R117I|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R117I	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	148					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GGATTCATATCTAGAGCTCTC	0.527		NaN											1	0	8.10497e-08	0.055883	8.72367e-08	22	77				
ZNF768	79724	broad.mit.edu	37	16	30537349	30537349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30537349C>T	uc002dyk.3	-	2	288	c.112G>A	c.(112-114)GAG>AAG	p.E38K	ZNF768_uc010vex.1_Missense_Mutation_p.E7K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E7K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	38	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						gaaatttcctctTCCTCATTC	0.408		NaN											0	0	0	0.080422	0	29	139				
ZNF747	65988	broad.mit.edu	37	16	30545884	30545884	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:30545884G>A	uc002dyn.2	-	1	311	c.117C>T	c.(115-117)TTC>TTT	p.F39F	ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.F39F|ZNF747_uc010vey.1_Silent_p.F39F|uc002dyp.1_5'Flank	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN	zinc finger protein 747	39	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						CCACGTCGGCGAAGCTCACGG	0.731		NaN											0	0	0	0.047766	0	5	10				
ABCC11	85320	broad.mit.edu	37	16	48234386	48234387	+	Nonsense_Mutation	DNP	CC	CC	TA			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:48234386_48234387CC>TA	uc002eff.1	-	14	2232_2233	c.1882_1883GG>TA	c.(1882-1884)GGA>TAA	p.G628*	ABCC11_uc002efg.1_Nonsense_Mutation_p.G628*|ABCC11_uc002efh.1_Nonsense_Mutation_p.G628*|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	628	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCCCCGCTCTCCAATCTGCAGA	0.594		NaN							Cerumen_Type				0	0	0	0.115264	0	6	47				
CDH13	1012	broad.mit.edu	37	16	83711918	83711918	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:83711918G>A	uc002fgx.2	+	10	1510	c.1390G>A	c.(1390-1392)GTC>ATC	p.V464I	CDH13_uc010vns.1_Missense_Mutation_p.V511I|CDH13_uc010vnt.1_Missense_Mutation_p.V210I|CDH13_uc010vnu.1_Missense_Mutation_p.V425I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	464	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACAGCCACCGTCCACATCAC	0.577		NaN											0	0	0	0.132662	0	13	69				
SGSM2	9905	broad.mit.edu	37	17	2279473	2279473	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:2279473G>A	uc002fun.3	+	18	2567	c.2392G>A	c.(2392-2394)GAC>AAC	p.D798N	SGSM2_uc002fum.3_Missense_Mutation_p.D843N|SGSM2_uc010vqw.1_Missense_Mutation_p.D798N|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	798	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCACCGCATAGACAAGGATGT	0.607		NaN											0	0	0	0.043863	0	15	76				
PLD2	5338	broad.mit.edu	37	17	4718857	4718857	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:4718857G>A	uc002fzc.2	+	13	1361	c.1260G>A	c.(1258-1260)CTG>CTA	p.L420L	PLD2_uc010vsj.1_Silent_p.L277L|PLD2_uc002fzd.2_Silent_p.L420L	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	420					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	AGAGGGCGCTGATGCTGCTGC	0.577		NaN									OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	47	165				
RPAIN	84268	broad.mit.edu	37	17	5331461	5331461	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:5331461G>T	uc002gbq.2	+	6	1130	c.560G>T	c.(559-561)TGT>TTT	p.C187F	RPAIN_uc010vsz.1_Missense_Mutation_p.C187F|RPAIN_uc002gbp.1_Missense_Mutation_p.C203F|RPAIN_uc010vta.1_3'UTR|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Missense_Mutation_p.C203F|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	187	RIP-type.				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						AGTGCACATTGTCCCCACACA	0.463		NaN											1	0	6.3237e-29	0.139131	7.24912e-29	48	53				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:7578454G>A	uc002gim.2	-	5	670	c.476C>T	c.(475-477)GCC>GTC	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.139131	0	48	8		Valid		
FLII	2314	broad.mit.edu	37	17	18155374	18155374	+	Silent	SNP	C	C	T	rs145214604		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:18155374C>T	uc002gsr.1	-	11	1236	c.1185G>A	c.(1183-1185)TCG>TCA	p.S395S	FLII_uc002gsq.1_Silent_p.S267S|FLII_uc010cpy.1_Silent_p.S384S|FLII_uc010vxn.1_Silent_p.S364S|FLII_uc010vxo.1_Silent_p.S341S|FLII_uc002gss.1_Silent_p.S395S	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	395	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GGTTCTGCAGCGAGAAGTCGA	0.652		NaN											0	0	0	0.139131	0	43	43				
SLFN13	146857	broad.mit.edu	37	17	33769022	33769022	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:33769022C>T	uc002hjk.1	-	3	1812	c.1482G>A	c.(1480-1482)TTG>TTA	p.L494L	SLFN13_uc010wch.1_Silent_p.L494L|SLFN13_uc002hjl.2_Silent_p.L494L|SLFN13_uc010ctt.2_Silent_p.L176L|SLFN13_uc002hjm.2_Silent_p.L163L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	494						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCTGCTTCAAAGTAAAGG	0.582		NaN											0	0	0	0.069234	0	5	67				
ITGA3	3675	broad.mit.edu	37	17	48155574	48155574	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:48155574G>A	uc010dbl.2	+	18	2687	c.2223G>A	c.(2221-2223)TCG>TCA	p.S741S	ITGA3_uc010dbm.2_Silent_p.S741S	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	741	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCCCAAGGTCGAGTCACCAGG	0.572		NaN											0	0	0	0.021553	0	5	87				
TEX2	55852	broad.mit.edu	37	17	62230483	62230483	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:62230483T>G	uc002jec.2	-	10	3135	c.2962A>C	c.(2962-2964)ATG>CTG	p.M988L	TEX2_uc002jed.2_Missense_Mutation_p.M995L|TEX2_uc002jee.2_Missense_Mutation_p.M988L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	988					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ACAAACCTCATAATCTTACTT	0.383		NaN											0	0	0	0.038147	0	6	31				
BPTF	2186	broad.mit.edu	37	17	65941562	65941562	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:65941562G>A	uc002jgf.2	+	21	6799	c.6738G>A	c.(6736-6738)CAG>CAA	p.Q2246Q	BPTF_uc002jge.2_Silent_p.Q2372Q|BPTF_uc002jgg.2_Silent_p.Q46Q|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2372					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTCACCCCAGATGCAGGTAC	0.448		NaN											0	0	0	0.064281	0	27	58				
UTS2R	2837	broad.mit.edu	37	17	80333364	80333364	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr17:80333364G>A	uc010wvl.1	+	1	1164	c.1164G>A	c.(1162-1164)CCG>CCA	p.P388P		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	388	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCAGGGCCCCGGCGTGAGCAC	0.761		NaN											0	0	0	0.021553	0	5	8				
RAB12	201475	broad.mit.edu	37	18	8624998	8624998	+	Splice_Site	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr18:8624998T>C	uc002knp.2	+	2	570	c.287_splice	c.e2+2	p.W96_splice		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						ACAGATCTGGTAAGTGGGAGA	0.358		NaN											0	0	0	0.139131	0	45	96				
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:7810561G>A	uc002mht.2	-	4	658	c.591C>T	c.(589-591)ACC>ACT	p.T197T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	197	Extracellular (Probable).|5.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CCTTCAGCCGGGTCAGCTCCT	0.567		NaN											0	0	0	0.02938	0	5	174				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:7810767G>A	uc002mht.2	-	4	452	c.385C>T	c.(385-387)CGG>TGG	p.R129W	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						GCCTTCAGCCGGGTCAGCTCC	0.567		NaN											0	0	0	0.02938	0	5	292				
ICAM5	7087	broad.mit.edu	37	19	10402342	10402342	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:10402342G>A	uc002mnu.3	+	3	595	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	ICAM5_uc002mnv.3_Missense_Mutation_p.R52Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	177	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCCCGAGCGCGGGGCGCGGTG	0.736		NaN											0	0	0	0.080935	0	7	23				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:12155673A>C	uc002mta.1	-	5	684	c.684T>G	c.(682-684)AGT>AGG	p.S228R		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	181	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACTGGGAAAACTGAATGCTT	0.403		NaN											0	0	0	0.021553	0	4	158				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:12501446T>C	uc010dyt.2	-	4	1916	c.1766A>G	c.(1765-1767)GAA>GGA	p.E589G	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCCTTACATTCATACGGGTT	0.413		NaN											0	0	0	0.115264	0	3	41				
KLHL26	55295	broad.mit.edu	37	19	18778894	18778894	+	Silent	SNP	G	G	A	rs150852328	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:18778894G>A	uc002njz.1	+	3	714	c.687G>A	c.(685-687)GCG>GCA	p.A229A		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	229	BACK.									ovary(1)	1						TGTTCCGCGCGGCCGTCCGCT	0.582		NaN											0	0	0	0.11911	0	14	22				
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:22155282T>C	uc002nqp.2	-	5	2403	c.2254A>G	c.(2254-2256)AAG>GAG	p.K752E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373		NaN											0	0	0	0.115264	0	3	58				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:23544867T>C	uc002nre.2	-	4	1027	c.914A>G	c.(913-915)CAT>CGT	p.H305R	ZNF91_uc010xrj.1_Missense_Mutation_p.H273R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	305	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413		NaN											0	0	0	0.021553	0	6	151				
SLC8A2	6543	broad.mit.edu	37	19	47935695	47935695	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:47935695C>G	uc002pgx.2	-	9	2396	c.2118G>C	c.(2116-2118)GAG>GAC	p.E706D	SLC8A2_uc010xyq.1_Missense_Mutation_p.E462D|SLC8A2_uc010xyr.1_Missense_Mutation_p.E169D|SLC8A2_uc010ele.2_Missense_Mutation_p.E706D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	706	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCCTCGTCCCCTG	0.602		NaN											0	0	0	0.021553	0	5	144				
CPT1C	126129	broad.mit.edu	37	19	50216744	50216744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:50216744G>A	uc002ppj.2	+	19	2499	c.2294G>A	c.(2293-2295)GGA>GAA	p.G765E	CPT1C_uc002ppk.2_Missense_Mutation_p.G754E|CPT1C_uc010eng.2_Missense_Mutation_p.G765E|CPT1C_uc010enh.2_Missense_Mutation_p.G765E|CPT1C_uc010eni.1_Missense_Mutation_p.G333E	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	765	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCAGGCGGGACAGCATTTT	0.542		NaN											0	0	0	0.125774	0	23	101				
ZNF836	162962	broad.mit.edu	37	19	52659075	52659075	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:52659075C>A	uc010ydi.1	-	5	2235	c.1861G>T	c.(1861-1863)GAC>TAC	p.D621Y	ZNF836_uc010ydj.1_Missense_Mutation_p.D621Y	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	621	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTCCACTGTCATTGAAGACC	0.423		NaN											1	0	3.59834e-05	0.021553	3.84368e-05	4	148				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53116804G>A	uc002pzu.3	-	2	2258	c.1014C>T	c.(1012-1014)ATC>ATT	p.I338I	ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	338	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413		NaN											0	0	0	0.021553	0	5	205				
ZNF347	84671	broad.mit.edu	37	19	53644380	53644380	+	Silent	SNP	T	T	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53644380T>C	uc002qbb.1	-	5	1770	c.1701A>G	c.(1699-1701)AAA>AAG	p.K567K	ZNF347_uc010eql.1_Silent_p.K568K|ZNF347_uc002qbc.1_Silent_p.K568K	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGTTTTTCTCCAG	0.413		NaN											0	0	0	0.02938	0	6	250				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:53958826G>A	uc010eqp.2	+	7	1523	c.1065G>A	c.(1063-1065)AAG>AAA	p.K355K	ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418		NaN											0	0	0	0.038147	0	6	263				
ZNF329	79673	broad.mit.edu	37	19	58639722	58639722	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr19:58639722G>A	uc002qrn.2	-	4	1386	c.1149C>T	c.(1147-1149)AAC>AAT	p.N383N	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	383	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGTGAGAGTTTCTGTTGA	0.498		NaN											0	0	0	0.09836	0	35	102				
GPAT2	150763	broad.mit.edu	37	2	96698049	96698049	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:96698049C>T	uc002svf.2	-	2	282	c.59G>A	c.(58-60)CGA>CAA	p.R20Q	GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.R20Q|GPAT2_uc002svh.2_Missense_Mutation_p.R20Q	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	20					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CATTACCTCTCGGCCACTGGG	0.572		NaN											0	0	0	0.058154	0	6	44				
IL18R1	8809	broad.mit.edu	37	2	103013325	103013325	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:103013325G>A	uc002tbw.3	+	11	1755	c.1605G>A	c.(1603-1605)TTG>TTA	p.L535L	IL18R1_uc010ywc.1_Silent_p.L534L|IL18R1_uc010ywd.1_Silent_p.L379L|IL18R1_uc010fiy.2_Silent_p.L535L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	535	Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						CGGAAGTCTTGCCTGTTCTTT	0.413		NaN											0	0	0	0.080935	0	9	21				
SULT1C4	27233	broad.mit.edu	37	2	108994731	108994731	+	Translation_Start_Site	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:108994731C>T	uc002tea.1	+	1	311	c.-62C>T	c.(-64--60)AACGC>AATGC		SULT1C4_uc002tdz.2_Translation_Start_Site|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Translation_Start_Site	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						CTATCCACAACGCAGCCATAT	0.488		NaN											0	0	0	0.02938	0	7	29				
CHD6	84181	broad.mit.edu	37	20	40049547	40049547	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr20:40049547C>G	uc002xka.1	-	31	5906	c.5728G>C	c.(5728-5730)GAT>CAT	p.D1910H		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1910					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTGGTTTCATCTTGGAAGCCT	0.517		NaN											0	0	0	0.125774	0	23	42				
PREX1	57580	broad.mit.edu	37	20	47266680	47266680	+	Missense_Mutation	SNP	G	G	A	rs41283554		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr20:47266680G>A	uc002xtw.1	-	24	2905	c.2882C>T	c.(2881-2883)CCG>CTG	p.P961L	PREX1_uc002xtv.1_Missense_Mutation_p.P258L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCACACAGCGGGTGGGGCTC	0.592		NaN											0	0	0	0.124865	0	33	132				
IFNAR2	3455	broad.mit.edu	37	21	34621017	34621017	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr21:34621017C>G	uc002yrd.2	+	6	726	c.398C>G	c.(397-399)TCT>TGT	p.S133C	IFNAR2_uc002yrb.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrc.2_Missense_Mutation_p.S133C|IFNAR2_uc002yre.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrf.2_Missense_Mutation_p.S133C|IFNAR2_uc002yrg.2_Missense_Mutation_p.S2C|IL10RB_uc002yrh.1_5'UTR|IL10RB_uc002yri.1_5'UTR	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	133	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	tGCACAGTGTCTTTTGAACCA	0.194		NaN											0	0	0	0.043863	0	17	80				
EDEM1	9695	broad.mit.edu	37	3	5249807	5249807	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:5249807C>T	uc003bqi.2	+	8	1500	c.1368C>T	c.(1366-1368)ATC>ATT	p.I456I	EDEM1_uc011asz.1_Silent_p.I234I|EDEM1_uc003bqh.2_Silent_p.I456I	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	456	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AAGATGCCATCTGCCTTCATG	0.512		NaN											0	0	0	0.139131	0	47	93				
IRAK2	3656	broad.mit.edu	37	3	10264330	10264330	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:10264330T>G	uc003bve.1	+	9	1100	c.1024T>G	c.(1024-1026)TTG>GTG	p.L342V		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	342	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						CTCTAATGTCTTGCTGGACCA	0.453		NaN											0	0	0	0.139131	0	64	259				
SEC13	6396	broad.mit.edu	37	3	10342968	10342968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:10342968C>G	uc003bvn.2	-	9	1065	c.946G>C	c.(946-948)GAG>CAG	p.E316Q	SEC13_uc003bvl.2_Missense_Mutation_p.E248Q|SEC13_uc003bvm.2_Missense_Mutation_p.E302Q|SEC13_uc003bvp.2_Missense_Mutation_p.E319Q|SEC13_uc003bvo.2_Missense_Mutation_p.E362Q|SEC13_uc003bvq.1_Intron	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	316					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						TGCTGGCCCTCTGTCACTGAT	0.607		NaN											0	0	0	0.125774	0	24	236				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:32031962A>G	uc011axg.1	+	2	1940	c.1391A>G	c.(1390-1392)CAT>CGT	p.H464R		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGACCTTCCATCACAATTCA	0.418		NaN											0	0	0	0.021553	0	4	110				
PDCD6IP	10015	broad.mit.edu	37	3	33870428	33870428	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:33870428G>A	uc003cfx.2	+	7	956	c.801G>A	c.(799-801)CAG>CAA	p.Q267Q	PDCD6IP_uc003cfy.2_Silent_p.Q272Q|PDCD6IP_uc011axw.1_Silent_p.Q48Q	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	267	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						CAAAACAGCAGAAGAAATTTG	0.388		NaN											0	0	0	0.0333	0	13	43				
COL6A6	131873	broad.mit.edu	37	3	130285707	130285707	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:130285707G>A	uc010htl.2	+	4	1475	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	482	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCAGTATGCTGACAGCTGGGA	0.478		NaN											0	0	0	0.059317	0	27	124				
ACPL2	92370	broad.mit.edu	37	3	141011518	141011518	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:141011518A>G	uc003etu.2	+	8	1213	c.914A>G	c.(913-915)AAT>AGT	p.N305S	ACPL2_uc003etv.2_Missense_Mutation_p.N305S|ACPL2_uc011bna.1_Missense_Mutation_p.N267S|ACPL2_uc011bnb.1_Missense_Mutation_p.N288S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	305						extracellular region	acid phosphatase activity			skin(1)	1						TTCTGCCACAATGTCAGCTTT	0.517		NaN											0	0	0	0.105934	0	12	79				
LSG1	55341	broad.mit.edu	37	3	194373664	194373664	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:194373664C>T	uc003fui.2	-	8	1282	c.967G>A	c.(967-969)GAA>AAA	p.E323K		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	323					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CCGTCTTCTTCTGAGCACGTC	0.527		NaN											0	0	0	0.009096	0	4	70				
MUC4	4585	broad.mit.edu	37	3	195512118	195512118	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr3:195512118G>A	uc011bto.1	-	2	6793	c.6333C>T	c.(6331-6333)ACC>ACT	p.T2111T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	886	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGCGGTGGCGTGAC	0.572		NaN											0	0	0	0.115264	0	3	5				
BMP2K	55589	broad.mit.edu	37	4	79832995	79832995	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:79832995C>T	uc003hlk.2	+	16	3460	c.3294C>T	c.(3292-3294)GTC>GTT	p.V1098V	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1098						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						ACAATACTGTCCTGCCAGGGC	0.517		NaN											0	0	0	0.02938	0	5	46				
HNRPDL	9987	broad.mit.edu	37	4	83348369	83348369	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:83348369C>T	uc003hmr.2	-	5	1530	c.995G>A	c.(994-996)CGA>CAA	p.R332Q	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.R332Q	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	332	Gly-rich.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				CGTACCACCTCGTCCACCAGC	0.438		NaN											0	0	0	0.139131	0	66	165				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:146059006G>A	uc003ika.3	-	21	2864	c.2726C>T	c.(2725-2727)ACT>ATT	p.T909I	OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	973							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463		NaN											0	0	0	0.09319	0	10	71				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr4:146059041A>G	uc003ika.3	-	21	2829	c.2691T>C	c.(2689-2691)CAT>CAC	p.H897H	OTUD4_uc003ijz.3_Silent_p.H896H	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	961							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478		NaN											0	0	0	0.080935	0	9	86				
HCN1	348980	broad.mit.edu	37	5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:45262592C>T	uc003jok.2	-	8	2129	c.2104G>A	c.(2104-2106)GCG>ACG	p.A702T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	702	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTGCAGACCGCGGTGGTGTAG	0.592		NaN											0	0	0	0.0333	0	15	4				
DDX4	54514	broad.mit.edu	37	5	55088541	55088541	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:55088541G>A	uc003jqg.3	+	17	1449	c.1375G>A	c.(1375-1377)GAA>AAA	p.E459K	DDX4_uc010ivz.2_Missense_Mutation_p.E439K|DDX4_uc003jqh.3_Missense_Mutation_p.E425K|DDX4_uc003jqj.2_Missense_Mutation_p.E310K	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	459	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGTCCAGAAATGAAGAA	0.378		NaN											0	0	0	0.062417	0	16	24				
DDX4	54514	broad.mit.edu	37	5	55094390	55094390	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:55094390C>G	uc003jqg.3	+	18	1680	c.1606C>G	c.(1606-1608)CGA>GGA	p.R536G	DDX4_uc010ivz.2_Missense_Mutation_p.R516G|DDX4_uc003jqh.3_Missense_Mutation_p.R502G|DDX4_uc003jqj.2_Missense_Mutation_p.R387G	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	536	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGAAATTCTGCGAAACATAGG	0.343		NaN											0	0	0	0.105934	0	12	18				
ADAMTS6	11174	broad.mit.edu	37	5	64756014	64756014	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:64756014G>C	uc003jtp.2	-	4	1428	c.614C>G	c.(613-615)TCT>TGT	p.S205C	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	205					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCCACAATGAGAGTGATCATA	0.408		NaN											0	0	0	0.144211	0	24	29				
DMGDH	29958	broad.mit.edu	37	5	78294073	78294073	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:78294073C>G	uc003kfs.2	-	16	2439	c.2433G>C	c.(2431-2433)AAG>AAC	p.K811N		NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	811					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AAGCCAGACTCTTCTGGATGC	0.473		NaN											0	0	0	0.02938	0	7	11				
TSSK1B	83942	broad.mit.edu	37	5	112769745	112769745	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:112769745G>A	uc003kqm.2	-	1	984	c.792C>T	c.(790-792)GAC>GAT	p.D264D	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	264	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGATCTCGTCGATGTGGA	0.617		NaN											0	0	0	0.014758	0	4	32				
PCDHA2	56146	broad.mit.edu	37	5	140175132	140175132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:140175132G>A	uc003lhd.2	+	1	689	c.583G>A	c.(583-585)GTG>ATG	p.V195M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V195M|PCDHA2_uc011czy.1_Missense_Mutation_p.V195M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	195	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTCTCTCGTGCTGGGGAA	0.463		NaN											0	0	0	0.116897	0	24	34				
PCDHGA9	56107	broad.mit.edu	37	5	140784367	140784367	+	Silent	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:140784367C>T	uc003lkh.1	+	1	1848	c.1848C>T	c.(1846-1848)CTC>CTT	p.L616L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L616L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	616	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAGGGCTCTTCTCGGTGG	0.597		NaN											0	0	0	0.076483	0	21	20				
TCOF1	6949	broad.mit.edu	37	5	149755460	149755460	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr5:149755460G>C	uc003lry.2	+	12	1989	c.1881G>C	c.(1879-1881)ATG>ATC	p.M627I	TCOF1_uc003lrw.2_Missense_Mutation_p.M627I|TCOF1_uc011dch.1_Missense_Mutation_p.M627I|TCOF1_uc003lrz.2_Missense_Mutation_p.M627I|TCOF1_uc003lrx.2_Missense_Mutation_p.M550I|TCOF1_uc003lsa.2_Missense_Mutation_p.M550I|TCOF1_uc011dci.1_Missense_Mutation_p.M116I	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	627					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCAGCCATGACTGCAGCTC	0.627		NaN											0	0	0	0.058154	0	7	18				
NHLRC1	378884	broad.mit.edu	37	6	18121856	18121856	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18121856C>G	uc003ncl.1	-	1	996	c.982G>C	c.(982-984)GAT>CAT	p.D328H		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	328	NHL 5.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCCTGGTGATCAAAGGTCACA	0.483		NaN											0	0	0	0.139131	0	61	76				
NHLRC1	378884	broad.mit.edu	37	6	18122765	18122765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18122765C>A	uc003ncl.1	-	1	87	c.73G>T	c.(73-75)GAG>TAG	p.E25*		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	25					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ACCTTGCACTCGAGCAGGCTG	0.711		NaN											1	0	9.39395e-14	0.116897	1.0348e-13	22	40				
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr6:18122786C>T	uc003ncl.1	-	1	66	c.52G>A	c.(52-54)GAG>AAG	p.E18K		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711		NaN											0	0	0	0.083992	0	18	33				
CPVL	54504	broad.mit.edu	37	7	29070210	29070210	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:29070210C>G	uc003szv.2	-	12	1422	c.1303G>C	c.(1303-1305)GCG>CCG	p.A435P	CPVL_uc003szw.2_Missense_Mutation_p.A435P|CPVL_uc003szx.2_Missense_Mutation_p.A435P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	435					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						AAGTCACCCGCTTGCCGGATG	0.478		NaN											0	0	0	0.139131	0	167	185				
NOD1	10392	broad.mit.edu	37	7	30485764	30485764	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:30485764C>G	uc003tav.2	-	9	2969	c.2446G>C	c.(2446-2448)GAG>CAG	p.E816Q		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	816					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CACCCAACCTCAGAGATTGAT	0.488		NaN											0	0	0	0.074837	0	29	398				
AOAH	313	broad.mit.edu	37	7	36657936	36657936	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:36657936C>G	uc003tfh.3	-	10	1119	c.718G>C	c.(718-720)GAT>CAT	p.D240H	AOAH_uc010kxf.2_Missense_Mutation_p.D240H|AOAH_uc011kba.1_Missense_Mutation_p.D208H	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	240					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GGAACTCCATCTTTTGGATCG	0.308		NaN											0	0	0	0.09319	0	10	71				
ZNF92	168374	broad.mit.edu	37	7	64863839	64863840	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:64863839_64863840CC>AT	uc003ttz.2	+	4	955_956	c.812_813CC>AT	c.(811-813)ACC>AAT	p.T271N	ZNF92_uc003tua.2_Missense_Mutation_p.T202N|ZNF92_uc010kzu.2_Missense_Mutation_p.T239N|ZNF92_uc003tub.2_Missense_Mutation_p.T195N	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	271	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				CGGTCCTCAACCCTTACTAAAC	0.351		NaN											0	0	0	0.115264	0	3	53				
CYP3A7	1551	broad.mit.edu	37	7	99308460	99308460	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:99308460A>C	uc003uru.2	-	10	1026	c.921T>G	c.(919-921)TAT>TAG	p.Y307*	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	307					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCGTGGTTTCATAGCCAGCAA	0.413		NaN											0	0	0	0.108266	0	24	40				
MUC17	140453	broad.mit.edu	37	7	100682156	100682156	+	Missense_Mutation	SNP	A	A	G	rs139444589	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:100682156A>G	uc003uxp.1	+	3	7512	c.7459A>G	c.(7459-7461)ATG>GTG	p.M2487V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2487	Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTATGACCACTTC	0.493		NaN											0	0	0	0.132662	0	6	428				
MUC17	140453	broad.mit.edu	37	7	100682158	100682158	+	Missense_Mutation	SNP	G	G	C	rs147944556		TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:100682158G>C	uc003uxp.1	+	3	7514	c.7461G>C	c.(7459-7461)ATG>ATC	p.M2487I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2487	Extracellular (Potential).|40.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTATGACCACTTCTA	0.493		NaN											0	0	0	0.132662	0	6	416				
CAV2	858	broad.mit.edu	37	7	116139888	116139888	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr7:116139888C>G	uc003vid.2	+	1	445	c.53C>G	c.(52-54)TCC>TGC	p.S18C	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_Intron|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_Intron|CAV2_uc003via.2_Intron|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.S18C	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	18	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GACGACGACTCCTACAGCCAC	0.682		NaN											0	0	0	0.115264	0	2	2				
RP1L1	94137	broad.mit.edu	37	8	10466059	10466059	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:10466059C>T	uc003wtc.2	-	4	5778	c.5549G>A	c.(5548-5550)GGT>GAT	p.G1850D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1850					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACACCTTCTGACTC	0.642		NaN											0	0	0	0.02938	0	6	197				
ZNF395	55893	broad.mit.edu	37	8	28210752	28210752	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:28210752G>A	uc003xgq.2	-	5	845	c.757C>T	c.(757-759)CAT>TAT	p.H253Y	ZNF395_uc003xgt.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgr.2_Missense_Mutation_p.H253Y|ZNF395_uc003xgs.2_Missense_Mutation_p.H253Y	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	253					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCAAAGCCATGATCAGTTTGG	0.587		NaN											0	0	0	0.045705	0	23	21				
ENPP2	5168	broad.mit.edu	37	8	120598469	120598469	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr8:120598469C>G	uc003yot.1	-	15	1410	c.1324G>C	c.(1324-1326)GAG>CAG	p.E442Q	ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.E81Q|ENPP2_uc003yos.1_Missense_Mutation_p.E494Q|ENPP2_uc010mdd.1_Missense_Mutation_p.E442Q	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	442					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGATATCCTCAATTCTTCTG	0.413		NaN											0	0	0	0.108266	0	25	60				
KIAA0368	23392	broad.mit.edu	37	9	114206748	114206748	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:114206748A>C	uc004bfe.1	-	5	714	c.714T>G	c.(712-714)AAT>AAG	p.N238K	KIAA0368_uc010muc.1_Missense_Mutation_p.N60K	NM_001080398	NP_001073867			KIAA0368 protein												0						TTATACGTTTATTCAGATGGA	0.388		NaN											0	0	0	0.080935	0	9	35				
C5	727	broad.mit.edu	37	9	123742496	123742496	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:123742496G>T	uc004bkv.2	-	28	3553	c.3523C>A	c.(3523-3525)CTG>ATG	p.L1175M		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1175					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTCAAGCAGAAAGTTGTCA	0.408		NaN											1	0	1.04858e-14	0.058154	1.16417e-14	7	50				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:130207140A>G	uc004bqw.3	+	5	1575	c.1161A>G	c.(1159-1161)AAA>AAG	p.K387K	ZNF79_uc011maf.1_Silent_p.K363K|ZNF79_uc011mag.1_Silent_p.K363K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CTGGGGAGAAACCCTACAAGT	0.532		NaN											0	0	0	0.02938	0	3	72				
C9orf119	375757	broad.mit.edu	37	9	131038427	131038427	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:131038427G>A	uc004bup.2	+	1	3	c.3G>A	c.(1-3)ATG>ATA	p.M1I	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.M1I	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	1					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GCGTGGCTATGCAGCGGCGTG	0.627		NaN											0	0	0	0.139131	0	45	57				
WDR34	89891	broad.mit.edu	37	9	131397988	131397988	+	Silent	SNP	C	C	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr9:131397988C>A	uc004bvq.1	-	5	886	c.762G>T	c.(760-762)CTG>CTT	p.L254L	WDR34_uc004bvs.1_Silent_p.L245L|WDR34_uc004bvr.1_Silent_p.L254L	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	254	WD 1.					cytoplasm				central_nervous_system(2)|skin(1)	3						TGCGCCACAGCAGCGGGTCCT	0.692		NaN											1	0	0.00909568	0.009096	0.00949993	3	38				
WNK3	65267	broad.mit.edu	37	X	54321158	54321158	+	Missense_Mutation	SNP	C	C	G	rs149832313	byFrequency	TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chrX:54321158C>G	uc004dtd.1	-	8	1960	c.1521G>C	c.(1519-1521)AGG>AGC	p.R507S	WNK3_uc004dtc.1_Missense_Mutation_p.R507S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	507					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ACTGAGAATCCCTGCGTTCTT	0.478		NaN											0	0	0	0.134883	0	27	2				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chrX:140994960G>A	uc004fbt.2	+	4	2056	c.1770G>A	c.(1768-1770)CTG>CTA	p.L590L	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567		NaN								HNSCC(15;0.026)			0	0	0	0.02938	0	6	249				
SAMD11	148398	broad.mit.edu	37	1	879384	879384	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:879384G>A	uc001abw.1	+	14	1977	c.1897G>A	c.(1897-1899)GGC>AGC	p.G633S	SAMD11_uc001abx.1_Missense_Mutation_p.G496S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	633						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGAGAACTCGGCACAGGAGA	0.682		NaN											0	0	0	0.01441	0	53	45				
TPRG1L	127262	broad.mit.edu	37	1	3544178	3544178	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:3544178G>A	uc001akm.2	+	4	666	c.585G>A	c.(583-585)CCG>CCA	p.P195P	TPRG1L_uc009vlj.2_Silent_p.P136P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction|synaptic vesicle					0	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGAACACCCGATGGCTGGCG	0.532		NaN											0	0	0	0.007413	0	17	161				
CHD5	26038	broad.mit.edu	37	1	6196893	6196893	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:6196893G>C	uc001amb.1	-	16	2569	c.2469C>G	c.(2467-2469)CTC>CTG	p.L823L	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	823	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATAGGAGGTGAGCAGCACGT	0.567		NaN											0	0	0	0.004289	0	28	41				
PRDM2	7799	broad.mit.edu	37	1	14075874	14075874	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:14075874G>A	uc001avi.2	+	6	1259	c.403G>A	c.(403-405)GAG>AAG	p.E135K	PRDM2_uc001avg.2_Missense_Mutation_p.E135K|PRDM2_uc001avh.2_Missense_Mutation_p.E135K|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	135	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCGGGCGAGGAGCTCCTGGT	0.537		NaN											0	0	0	0.000602	0	5	37				
UBR4	23352	broad.mit.edu	37	1	19528304	19528304	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19528304G>A	uc001bbi.2	-	2	186	c.182C>T	c.(181-183)TCA>TTA	p.S61L		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	61					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGATTTCTGATTCACTGTA	0.219		NaN											0	0	0	0.001984	0	6	48				
PQLC2	54896	broad.mit.edu	37	1	19653762	19653762	+	Silent	SNP	C	C	T	rs139194294	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19653762C>T	uc001bby.2	+	8	1012	c.660C>T	c.(658-660)TTC>TTT	p.F220F	PQLC2_uc001bbz.2_Silent_p.F155F|PQLC2_uc001bca.2_Silent_p.F220F|PQLC2_uc001bcb.2_Silent_p.F109F|PQLC2_uc001bcc.2_Silent_p.F109F	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	220	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCTGTTCGCGCTGGTGA	0.552		NaN											0	0	0	0.01441	0	51	69				
HNRNPR	10236	broad.mit.edu	37	1	23648144	23648144	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23648144C>T	uc001bgr.3	-	7	847	c.688G>A	c.(688-690)GAA>AAA	p.E230K	HNRNPR_uc001bgp.3_Missense_Mutation_p.E230K|HNRNPR_uc009vqk.2_Missense_Mutation_p.E129K|HNRNPR_uc001bgs.3_Missense_Mutation_p.E129K|HNRNPR_uc010odw.1_Missense_Mutation_p.E192K|HNRNPR_uc010odx.1_Missense_Mutation_p.E70K|HNRNPR_uc009vql.2_Missense_Mutation_p.E91K	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	230	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGGCGAATTTCATAGCTGTCA	0.383		NaN											0	0	0	0.01441	0	78	92				
ASAP3	55616	broad.mit.edu	37	1	23767922	23767922	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23767922G>A	uc001bha.2	-	9	916	c.792C>T	c.(790-792)CTC>CTT	p.L264L	ASAP3_uc010odz.1_Silent_p.L133L|ASAP3_uc010oea.1_Silent_p.L255L|ASAP3_uc001bhb.2_5'Flank	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	264	Potential.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GGGAGTCCCGGAGCTGGGTCA	0.597		NaN											0	0	0	0.003163	0	11	22				
CSMD2	114784	broad.mit.edu	37	1	34042907	34042907	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:34042907G>A	uc001bxn.1	-	50	7600	c.7571C>T	c.(7570-7572)CCT>CTT	p.P2524L	CSMD2_uc001bxm.1_Missense_Mutation_p.P2522L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2524	Sushi 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGACAGAGAGGGATGGCTTC	0.577		NaN											0	0	0	0.01441	0	47	61				
EIF2C3	192669	broad.mit.edu	37	1	36520571	36520571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520571C>T	uc001bzp.2	+	18	2555	c.2299C>T	c.(2299-2301)CAT>TAT	p.H767Y	EIF2C3_uc001bzq.2_Missense_Mutation_p.H533Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	767	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCACACTATCATGTTTTATG	0.348		NaN											0	0	0	0.01441	0	46	84				
EIF2C3	192669	broad.mit.edu	37	1	36520721	36520721	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520721C>T	uc001bzp.2	+	18	2705	c.2449C>T	c.(2449-2451)CAT>TAT	p.H817Y	EIF2C3_uc001bzq.2_Missense_Mutation_p.H583Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	817	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCAGATATCATCTTGTGGA	0.423		NaN											0	0	0	0.000602	0	3	11				
MANEAL	149175	broad.mit.edu	37	1	38265848	38265848	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:38265848C>T	uc001cby.2	+	4	1428	c.1347C>T	c.(1345-1347)ATC>ATT	p.I449I	MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Silent_p.I227I	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	449	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCACTTCATCAAAGAGAAGG	0.582		NaN											0	0	0	0.007835	0	35	59				
ERMAP	114625	broad.mit.edu	37	1	43296669	43296669	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:43296669G>A	uc001cic.1	+	4	586	c.316G>A	c.(316-318)GAG>AAG	p.E106K	ERMAP_uc010ojw.1_Missense_Mutation_p.E167K|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.E106K|ERMAP_uc001cif.1_Missense_Mutation_p.E16K	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	106	Ig-like V-type.|Extracellular (Potential).		DAQEGSVTLQI -> CPRGKCHSADP (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGATGCCCAAGAGGGAAGTGT	0.532		NaN											0	0	0	0.001984	0	5	67				
NASP	4678	broad.mit.edu	37	1	46080036	46080036	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:46080036C>A	uc001coi.1	+	9	1766	c.1664C>A	c.(1663-1665)TCT>TAT	p.S555Y	NASP_uc001coh.1_Missense_Mutation_p.S557Y|NASP_uc001coj.1_Missense_Mutation_p.S216Y|NASP_uc010olr.1_Missense_Mutation_p.S491Y|NASP_uc001col.1_Missense_Mutation_p.S63Y	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	555	TPR 2.|Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGTGTTGAATCTGGTAATGCA	0.378		NaN											1	0	9.65021e-13	0.010818	1.02374e-12	25	42				
PRKACB	5567	broad.mit.edu	37	1	84668421	84668421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:84668421C>T	uc001djj.2	+	8	962	c.698C>T	c.(697-699)GCA>GTA	p.A233V	PRKACB_uc001djl.2_Missense_Mutation_p.A280V|PRKACB_uc010ort.1_Missense_Mutation_p.A240V|PRKACB_uc001djn.2_Missense_Mutation_p.A237V|PRKACB_uc010oru.1_Missense_Mutation_p.A221V|PRKACB_uc001djp.2_Missense_Mutation_p.A239V|PRKACB_uc001djq.2_Missense_Mutation_p.A203V|PRKACB_uc010orv.1_Missense_Mutation_p.A220V|PRKACB_uc001dji.2_Missense_Mutation_p.A233V|PRKACB_uc001djk.2_Missense_Mutation_p.A280V|PRKACB_uc009wcf.1_Missense_Mutation_p.A239V	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	233	Protein kinase.			A -> V (in Ref. 3; CAI56774).	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATGAAATGGCAGCTGGCTAT	0.373		NaN											0	0	0	0.007413	0	15	193				
CLCA2	9635	broad.mit.edu	37	1	86921014	86921014	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:86921014C>T	uc001dlr.3	+	14	2798	c.2636C>T	c.(2635-2637)TCT>TTT	p.S879F		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	879	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTGCTGTATCTAACATTGCC	0.423		NaN											0	0	0	0.007291	0	21	275				
PTBP2	58155	broad.mit.edu	37	1	97278831	97278831	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:97278831G>C	uc001drq.2	+	14	1713	c.1467_splice	c.e14-1	p.Q489_splice	PTBP2_uc001drn.2_Missense_Mutation_p.R495T|PTBP2_uc001dro.2_Missense_Mutation_p.R490T|PTBP2_uc010otz.1_Missense_Mutation_p.R506T|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.R438T|PTBP2_uc001drr.2_Splice_Site_p.Q494_splice|PTBP2_uc010oua.1_Missense_Mutation_p.R498T|PTBP2_uc001dru.2_Splice_Site|PTBP2_uc001drs.1_Missense_Mutation_p.R109T|PTBP2_uc001drt.2_Splice_Site_p.Q108_splice	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTTTCAGAAGAGATCACAAA	0.323		NaN											0	0	0	0.009096	0	3	53				
STXBP3	6814	broad.mit.edu	37	1	109339242	109339242	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:109339242G>T	uc001dvy.2	+	15	1325	c.1250G>T	c.(1249-1251)GGA>GTA	p.G417V	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	417					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCTATTTAAGGAACTACGGAA	0.338		NaN											1	0	1.68575e-08	0.007291	1.75581e-08	26	27				
AMIGO1	57463	broad.mit.edu	37	1	110050083	110050083	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:110050083C>T	uc001dxx.3	-	2	1834	c.1452G>A	c.(1450-1452)TCG>TCA	p.S484S		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	484	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGAGAAGACCGAGCTGACTG	0.582		NaN											0	0	0	0.008871	0	16	214				
DDX20	11218	broad.mit.edu	37	1	112298569	112298569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:112298569C>T	uc001ebs.2	+	1	380	c.23C>T	c.(22-24)TCG>TTG	p.S8L	C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	8					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGAAGCCTCGGGAGCCTTA	0.632		NaN											0	0	0	0.004007	0	13	29				
TTF2	8458	broad.mit.edu	37	1	117633952	117633952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:117633952C>G	uc001egy.2	+	16	2611	c.2591C>G	c.(2590-2592)TCA>TGA	p.S864*		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	864					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAGGCAGGTCAGCTCTGCAA	0.393		NaN											0	0	0	0.013114	0	42	77				
NBPF9	400818	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:144220816A>G	uc010oxr.1	+	19	2193	c.2189A>G	c.(2188-2190)GAG>GGG	p.E730G	NBPF9_uc010oxn.1_Missense_Mutation_p.E601G|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.E518G|NBPF9_uc001ekg.1_Missense_Mutation_p.E30G|NBPF9_uc001ekk.1_Missense_Mutation_p.E274G|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.E30G|uc010oxz.1_Missense_Mutation_p.E518G	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	703	NBPF 5.					cytoplasm					0						GATGAGAAAGAGCCTGAAGTC	0.483		NaN											0	0	0	0.001984	0	5	278				
NBPF10	100132406	broad.mit.edu	37	1	145360624	145360624	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:145360624G>A	uc001end.3	+	76	9509	c.9474G>A	c.(9472-9474)TCG>TCA	p.S3158S	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3083											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGTTATTCGACTCCTTCAG	0.478		NaN											0	0	0	0.004482	0	8	24				
HRNR	388697	broad.mit.edu	37	1	152190860	152190860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152190860G>A	uc001ezt.1	-	3	3321	c.3245C>T	c.(3244-3246)ACA>ATA	p.T1082I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1082	12.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGATGTAGAACCGTG	0.552		NaN											0	0	0	0.01441	0	197	517				
LCE1D	353134	broad.mit.edu	37	1	152770489	152770489	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770489G>A	uc009wnp.2	+	2	262	c.219G>A	c.(217-219)CTG>CTA	p.L73L		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	73	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGCCTGAGCCACCACA	0.711		NaN											0	0	0	0.00308	0	8	22				
LCE1D	353134	broad.mit.edu	37	1	152770614	152770614	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770614G>A	uc009wnp.2	+	2	387	c.344G>A	c.(343-345)TGA>TAA	p.*115*		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	115					cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGCTGCTGAAGTGGACCT	0.602		NaN											0	0	0	0.01441	0	39	2				
INTS3	65123	broad.mit.edu	37	1	153745426	153745426	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:153745426G>A	uc009wom.2	+	30	3141	c.2920G>A	c.(2920-2922)GAG>AAG	p.E974K	INTS3_uc001fct.2_Missense_Mutation_p.E974K|INTS3_uc001fcu.2_Missense_Mutation_p.E666K|INTS3_uc001fcv.2_Missense_Mutation_p.E768K|INTS3_uc010peb.1_Missense_Mutation_p.E834K|INTS3_uc001fcw.2_Missense_Mutation_p.E487K|INTS3_uc010pec.1_Missense_Mutation_p.E487K|INTS3_uc001fcy.2_Missense_Mutation_p.E337K|INTS3_uc001fcx.2_Missense_Mutation_p.E271K	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	975					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCCTGGCGGAGGAATATGA	0.572		NaN											0	0	0	0.006122	0	17	138				
ADAR	103	broad.mit.edu	37	1	154557296	154557296	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154557296G>C	uc001ffh.2	-	15	3867	c.3667C>G	c.(3667-3669)CTC>GTC	p.L1223V	ADAR_uc001ffj.2_Missense_Mutation_p.L1178V|ADAR_uc001ffi.2_Missense_Mutation_p.L1197V|ADAR_uc001ffk.2_Missense_Mutation_p.L928V	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1223					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACTGGGCAGAGATAAAAGTTC	0.483		NaN											0	0	0	0.01441	0	71	190				
ADAR	103	broad.mit.edu	37	1	154571024	154571024	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154571024G>A	uc001ffh.2	-	3	1839	c.1639C>T	c.(1639-1641)CCC>TCC	p.P547S	ADAR_uc001ffj.2_Missense_Mutation_p.P547S|ADAR_uc001ffi.2_Missense_Mutation_p.P547S|ADAR_uc001ffk.2_Missense_Mutation_p.P252S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	547	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCAGCTGGGGGAAACTCTCGG	0.473		NaN											0	0	0	0.00245	0	12	167				
KIRREL	55243	broad.mit.edu	37	1	158061194	158061194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158061194G>A	uc001frn.3	+	11	1723	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	KIRREL_uc010pib.1_Missense_Mutation_p.R340H|KIRREL_uc009wsq.2_Missense_Mutation_p.R276H|KIRREL_uc001fro.3_Missense_Mutation_p.R254H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	440	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					ACCCTGGAACGCTATACAGTG	0.567		NaN											0	0	0	0.006999	0	41	120				
OR6Y1	391112	broad.mit.edu	37	1	158517192	158517192	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158517192G>A	uc010pil.1	-	1	704	c.704C>T	c.(703-705)TCT>TTT	p.S235F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCCCTGAGCAGAAGGGATCCT	0.522		NaN											0	0	0	0.01441	0	55	95				
OR10J1	26476	broad.mit.edu	37	1	159409658	159409658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159409658C>T	uc010piv.1	+	1	110	c.110C>T	c.(109-111)ACC>ATC	p.T37I	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	37	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGATCACCCTTTTTGGC	0.418		NaN											0	0	0	0.01441	0	177	124				
IGSF9	57549	broad.mit.edu	37	1	159897219	159897219	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159897219G>A	uc001fur.2	-	21	3654	c.3456C>T	c.(3454-3456)TTC>TTT	p.F1152F	IGSF9_uc001fuq.2_Silent_p.F1136F|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F298F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	1152	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCGGCGGCGGAAGGCCAGGA	0.632		NaN											0	0	0	0.01441	0	46	106				
BLZF1	8548	broad.mit.edu	37	1	169345923	169345923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169345923G>C	uc001gfx.1	+	3	611	c.174G>C	c.(172-174)GAG>GAC	p.E58D	BLZF1_uc001gfw.2_Missense_Mutation_p.E58D|BLZF1_uc001gfy.2_Missense_Mutation_p.E58D|BLZF1_uc009wvp.1_Missense_Mutation_p.E35D	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	58					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					TTCCATCAGAGAGCCCAGGAG	0.413		NaN											0	0	0	0.014323	0	20	83				
BLZF1	8548	broad.mit.edu	37	1	169346158	169346158	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169346158G>C	uc001gfx.1	+	3	846	c.409G>C	c.(409-411)GAA>CAA	p.E137Q	BLZF1_uc001gfw.2_Missense_Mutation_p.E137Q|BLZF1_uc001gfy.2_Missense_Mutation_p.E137Q|BLZF1_uc009wvp.1_Missense_Mutation_p.E114Q	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	137	Potential.				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					CAAGAATTCTGAAAGAAGGTT	0.383		NaN											0	0	0	0.010818	0	25	49				
SCYL3	57147	broad.mit.edu	37	1	169825055	169825055	+	Silent	SNP	C	C	T	rs75739679	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169825055C>T	uc001ggs.2	-	12	1554	c.1356G>A	c.(1354-1356)TCG>TCA	p.S452S	SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	452					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAAGATTGGCGAGATCTGAC	0.428		NaN											0	0	0	0.000602	0	4	133				
TPR	7175	broad.mit.edu	37	1	186326652	186326652	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:186326652G>A	uc001grv.2	-	14	1898	c.1601C>T	c.(1600-1602)TCA>TTA	p.S534L	TPR_uc010pop.1_Missense_Mutation_p.S610L	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	534	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TAGATGCTGTGATATTACCTC	0.403		NaN	T	NTRK1	papillary thyroid								0	0	0	0.013114	0	44	83				
CFH	3075	broad.mit.edu	37	1	196643008	196643008	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:196643008G>C	uc001gtj.3	+	3	506	c.266G>C	c.(265-267)GGA>GCA	p.G89A	CFH_uc001gti.3_Missense_Mutation_p.G89A|CFH_uc009wyw.2_Missense_Mutation_p.G89A|CFH_uc009wyx.2_Missense_Mutation_p.G89A	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	89	Sushi 2.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GGACATCCTGGAGATACTCCT	0.363		NaN											0	0	0	0.004007	0	13	199				
LAD1	3898	broad.mit.edu	37	1	201351425	201351425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:201351425C>G	uc001gwm.2	-	9	1738	c.1503G>C	c.(1501-1503)GAG>GAC	p.E501D		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	501						basement membrane	structural molecule activity				0						ACTGAGTCCTCTCGGTTGCAG	0.607		NaN											0	0	0	0.01441	0	107	59				
ATP2B4	493	broad.mit.edu	37	1	203676348	203676348	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:203676348G>A	uc001gzw.2	+	9	2195	c.1311G>A	c.(1309-1311)GTG>GTA	p.V437V	ATP2B4_uc001gzv.2_Silent_p.V437V|ATP2B4_uc009xaq.2_Silent_p.V437V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	437	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTACTCTGTGAAGGTGAGAC	0.468		NaN											0	0	0	0.001984	0	7	115				
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:207112588C>T	uc001hez.2	-	3	448	c.264G>A	c.(262-264)CCG>CCA	p.P88P	PIGR_uc009xbz.2_Silent_p.P88P	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	88	Ig-like V-type 1.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TGCCGTTCTCCGGGAAGTTGG	0.592		NaN											0	0	0	0.009096	0	4	91				
NSL1	25936	broad.mit.edu	37	1	212911828	212911828	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212911828C>T	uc001hjn.2	-	6	802	c.768G>A	c.(766-768)CTG>CTA	p.L256L	NSL1_uc001hjm.2_3'UTR|NSL1_uc010pti.1_Silent_p.L215L	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	NSL1, MIND kinetochore complex component isoform	256					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTCTTTTCAGTACCATGT	0.398		NaN											0	0	0	0.005443	0	20	176				
EPRS	2058	broad.mit.edu	37	1	220174523	220174523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:220174523G>T	uc001hly.1	-	17	2408	c.2138C>A	c.(2137-2139)TCA>TAA	p.S713*	EPRS_uc010puf.1_Nonsense_Mutation_p.S464*|EPRS_uc001hlz.1_Nonsense_Mutation_p.S720*|EPRS_uc009xdt.1_Nonsense_Mutation_p.S301*	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	713	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTTGACCCTGATGTTGGCAT	0.373		NaN											1	0	2.81731e-10	0.010818	2.95744e-10	29	65				
NSUN6	221078	broad.mit.edu	37	10	18840786	18840786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:18840786G>T	uc010qcp.1	-	9	1455	c.1037C>A	c.(1036-1038)TCA>TAA	p.S346*		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	346							methyltransferase activity|RNA binding			ovary(2)	2						TGGCTGATATGATGCCACTTC	0.423		NaN											1	0	0.00198382	0.001984	0.00201395	5	155				
ARMC4	55130	broad.mit.edu	37	10	28276464	28276464	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:28276464G>C	uc009xky.2	-	3	331	c.233C>G	c.(232-234)ACA>AGA	p.T78R	ARMC4_uc001itz.2_Missense_Mutation_p.T78R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	78							binding			ovary(4)|skin(2)	6						TGATTTGACTGTTGTTTCACt	0.318		NaN											0	0	0	0.006214	0	8	22				
VCL	7414	broad.mit.edu	37	10	75849105	75849105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:75849105C>T	uc001jwd.2	+	9	1268	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*	VCL_uc009xrr.2_Nonsense_Mutation_p.Q141*|VCL_uc010qky.1_Nonsense_Mutation_p.Q299*|VCL_uc001jwe.2_Nonsense_Mutation_p.Q392*|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	392	N-terminal globular head.|3 X 112 AA tandem repeats.|2.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CGATGCTGCTCAGGTAGTCAC	0.423		NaN											0	0	0	0.01441	0	35	8				
PKD2L1	9033	broad.mit.edu	37	10	102056962	102056962	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:102056962C>T	uc001kqx.1	-	6	1343	c.960G>A	c.(958-960)CTG>CTA	p.L320L	PKD2L1_uc009xwm.1_Silent_p.L273L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	320	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACTCCACCACCAGCCTATAGG	0.582		NaN											0	0	0	0.000602	0	4	52				
PDCD11	22984	broad.mit.edu	37	10	105191938	105191938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:105191938G>A	uc001kwy.1	+	22	3508	c.3421G>A	c.(3421-3423)GAG>AAG	p.E1141K		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1141					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCCCCATGGAGAAGATTAA	0.438		NaN											0	0	0	0.00278	0	17	69				
SORCS1	114815	broad.mit.edu	37	10	108371749	108371749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:108371749G>C	uc001kym.2	-	22	2961	c.2953C>G	c.(2953-2955)CCA>GCA	p.P985A	SORCS1_uc001kyl.2_Missense_Mutation_p.P985A|SORCS1_uc009xxs.2_Missense_Mutation_p.P985A|SORCS1_uc001kyn.1_Missense_Mutation_p.P985A|SORCS1_uc001kyo.2_Missense_Mutation_p.P985A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	985	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCAGGTTTGGAGAAAAGGAC	0.458		NaN											0	0	0	0.004878	0	33	7				
MKI67	4288	broad.mit.edu	37	10	129904104	129904104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:129904104C>G	uc001lke.2	-	13	6195	c.6000G>C	c.(5998-6000)AAG>AAC	p.K2000N	MKI67_uc001lkf.2_Missense_Mutation_p.K1640N|MKI67_uc009yav.1_Missense_Mutation_p.K1575N|MKI67_uc009yaw.1_Missense_Mutation_p.K1150N	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2000	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAAGGATATCTTGAGTCGTT	0.493		NaN											0	0	0	0.01441	0	168	41				
KRTAP5-4	387267	broad.mit.edu	37	11	1642643	1642643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:1642643C>G	uc009ycy.1	-	4	906	c.819G>C	c.(817-819)AAG>AAC	p.K273N		NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	287						keratin filament					0		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCTCAGATCTTACACTGGC	0.547		NaN											0	0	0	0.006214	0	9	159				
TRPM5	29850	broad.mit.edu	37	11	2427906	2427906	+	Missense_Mutation	SNP	C	C	T	rs148532424		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:2427906C>T	uc001lwm.3	-	21	3245	c.3236G>A	c.(3235-3237)CGG>CAG	p.R1079Q	TRPM5_uc010qxl.1_Missense_Mutation_p.R1079Q|TRPM5_uc009ydn.2_Missense_Mutation_p.R1081Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	1079	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGGTTTTCCGCAGCACCTC	0.617		NaN											0	0	0	0.01441	0	74	96				
OR51F1	256892	broad.mit.edu	37	11	4790271	4790271	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:4790271T>C	uc010qyl.1	-	1	877	c.877A>G	c.(877-879)ATC>GTC	p.I293V		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	293						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACACTGTCGATGATGGGGTTG	0.448		NaN											0	0	0	0.01441	0	56	69				
OR2D3	120775	broad.mit.edu	37	11	6942471	6942471	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:6942471G>C	uc010rav.1	+	1	239	c.239G>C	c.(238-240)AGA>ACA	p.R80T		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	80	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTTTCTTAGAAATCTCTCC	0.408		NaN											0	0	0	0.01441	0	55	58				
MRGPRX3	117195	broad.mit.edu	37	11	18159013	18159013	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:18159013C>G	uc001mnu.2	+	3	625	c.264C>G	c.(262-264)ATC>ATG	p.I88M		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	88	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TACGCCTCATCAATATCCGCC	0.547		NaN											0	0	0	0.00874	0	42	50				
ABTB2	25841	broad.mit.edu	37	11	34181459	34181459	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:34181459G>C	uc001mvl.1	-	13	2272	c.2042C>G	c.(2041-2043)TCT>TGT	p.S681C		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	681							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTACCTGTTAGAAGCTGTCAC	0.488		NaN											0	0	0	0.009535	0	27	22				
SERPING1	710	broad.mit.edu	37	11	57367761	57367761	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:57367761A>G	uc001nkp.1	+	3	652	c.461A>G	c.(460-462)TAC>TGC	p.Y154C	SERPING1_uc001nkq.1_Missense_Mutation_p.Y154C|SERPING1_uc010rju.1_Missense_Mutation_p.Y102C|SERPING1_uc010rjv.1_Missense_Mutation_p.Y159C|SERPING1_uc001nkr.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymi.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymj.1_Missense_Mutation_p.Y154C|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	154					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CTGAAGCTCTACCACGCCTTC	0.542		NaN							Hereditary_Angioedema				0	0	0	0.00245	0	10	169				
DAGLA	747	broad.mit.edu	37	11	61507077	61507077	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:61507077C>T	uc001nsa.2	+	17	1908	c.1797C>T	c.(1795-1797)CTC>CTT	p.L599L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	599	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GCACTCCACTCTACCCGCCCG	0.657		NaN											0	0	0	0.01441	0	48	63				
KRTAP5-7	440050	broad.mit.edu	37	11	71238815	71238815	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:71238815G>T	uc001oqq.1	+	1	503	c.469G>T	c.(469-471)GTC>TTC	p.V157F		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	157	7 X 4 AA repeats of C-C-X-P.|7.					keratin filament					0						TAGCTGCTGTGTCCCCGTGTG	0.323		NaN											1	0	2.45186e-53	0.01441	2.679e-53	136	202				
FAT3	120114	broad.mit.edu	37	11	92087838	92087838	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:92087838G>A	uc001pdj.3	+	1	2577	c.2560G>A	c.(2560-2562)GAA>AAA	p.E854K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	854	Cadherin 8.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCAAGTGGAAGCCAGAGA	0.393		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004656	0	22	27				
KIAA1377	57562	broad.mit.edu	37	11	101868342	101868342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:101868342G>C	uc001pgm.2	+	11	3592	c.3322G>C	c.(3322-3324)GAT>CAT	p.D1108H	KIAA1377_uc001pgn.2_Missense_Mutation_p.D1064H|KIAA1377_uc010run.1_Missense_Mutation_p.D909H	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	1108							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAGAGAAGATAGAACCAG	0.428		NaN											0	0	0	0.001168	0	5	88				
DLAT	1737	broad.mit.edu	37	11	111896985	111896985	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:111896985G>A	uc001pmo.2	+	2	1002	c.343G>A	c.(343-345)GAG>AAG	p.E115K	DLAT_uc009yyk.1_Missense_Mutation_p.E115K|DLAT_uc010rwr.1_Missense_Mutation_p.E115K	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	115	Lipoyl-binding 1.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GGAAAAAAAAGAGGGGGACAA	0.303		NaN											0	0	0	0.006214	0	5	19				
USP28	57646	broad.mit.edu	37	11	113672370	113672370	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:113672370C>T	uc001poh.2	-	24	2926	c.2893G>A	c.(2893-2895)GAA>AAA	p.E965K	USP28_uc001pog.2_Missense_Mutation_p.E641K|USP28_uc010rwy.1_Missense_Mutation_p.E808K|USP28_uc001poi.2_Missense_Mutation_p.E288K	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	965					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCATTTGTTTCAAAAAGAGAA	0.363		NaN											0	0	0	0.005443	0	20	34				
PHLDB1	23187	broad.mit.edu	37	11	118485345	118485345	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:118485345C>T	uc001ptr.1	+	4	485	c.132C>T	c.(130-132)AGC>AGT	p.S44S	PHLDB1_uc010ryh.1_Silent_p.S44S|PHLDB1_uc001pts.2_Silent_p.S44S|PHLDB1_uc001ptt.2_Silent_p.S44S|PHLDB1_uc001ptu.1_RNA	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	44											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCTGGTGAGCCTGGGCAGTG	0.572		NaN											0	0	0	0.00499	0	17	23				
SORL1	6653	broad.mit.edu	37	11	121485651	121485651	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:121485651C>G	uc001pxx.2	+	41	5571	c.5491C>G	c.(5491-5493)CTG>GTG	p.L1831V	SORL1_uc010rzp.1_Missense_Mutation_p.L677V|SORL1_uc010rzq.1_Missense_Mutation_p.L446V	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1831	Extracellular (Potential).|Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATAGCCCTCTGGCATTTGA	0.527		NaN											0	0	0	0.003163	0	14	180				
UBASH3B	84959	broad.mit.edu	37	11	122672000	122672000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:122672000G>C	uc001pyi.3	+	11	1915	c.1555G>C	c.(1555-1557)GAG>CAG	p.E519Q		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	519	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCTCCATCAGAGTTAGCTGC	0.488		NaN											0	0	0	0.008871	0	16	206				
OR8B2	26595	broad.mit.edu	37	11	124253209	124253209	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:124253209C>T	uc010sai.1	-	1	31	c.31G>A	c.(31-33)GAA>AAA	p.E11K	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAATAAATTCAGTCACTAAG	0.373		NaN											0	0	0	0.010818	0	12	138				
PRDM10	56980	broad.mit.edu	37	11	129785719	129785719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:129785719G>C	uc001qfm.2	-	17	2606	c.2374C>G	c.(2374-2376)CTG>GTG	p.L792V	PRDM10_uc001qfj.2_Missense_Mutation_p.L706V|PRDM10_uc001qfk.2_Missense_Mutation_p.L702V|PRDM10_uc001qfl.2_Missense_Mutation_p.L706V|PRDM10_uc010sbx.1_Missense_Mutation_p.L702V|PRDM10_uc001qfn.2_Missense_Mutation_p.L788V|PRDM10_uc009zcs.1_5'UTR	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	792	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGTTCTTCAGAATGTGGGCT	0.532		NaN											0	0	0	0.001984	0	6	123				
APLP2	334	broad.mit.edu	37	11	130003611	130003611	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:130003611C>G	uc010sby.1	+	12	1829	c.1672C>G	c.(1672-1674)CAA>GAA	p.Q558E	APLP2_uc001qfp.2_Missense_Mutation_p.Q558E|APLP2_uc001qfq.2_Missense_Mutation_p.Q502E|APLP2_uc010sbz.1_Missense_Mutation_p.Q346E|APLP2_uc001qfr.2_Missense_Mutation_p.Q324E|APLP2_uc001qfs.2_Missense_Mutation_p.Q329E|APLP2_uc001qfv.2_Missense_Mutation_p.Q449E	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	558	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCAAGAAATTCAAGAGGAAAT	0.478		NaN											0	0	0	0.009096	0	4	78				
C12orf4	57102	broad.mit.edu	37	12	4639192	4639192	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:4639192C>G	uc001qms.2	-	4	437	c.349G>C	c.(349-351)GAA>CAA	p.E117Q	C12orf4_uc001qmt.2_Missense_Mutation_p.E117Q	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	117											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGGGTTCTTCAGGCCTTGCA	0.343		NaN											0	0	0	0.001168	0	6	96				
KLRC4	8302	broad.mit.edu	37	12	10562024	10562024	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10562024C>G	uc001qye.2	-	1	333	c.151G>C	c.(151-153)GAT>CAT	p.D51H	KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_Intron	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	51	Cytoplasmic (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0						CCTTGATGATCCGAAGAAGCA	0.353		NaN											0	0	0	0.003163	0	10	140				
TAS2R9	50835	broad.mit.edu	37	12	10962188	10962188	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10962188C>G	uc001qyx.2	-	1	580	c.487G>C	c.(487-489)GAA>CAA	p.E163Q	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	163	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GTAATGTTTTCTTCATGACTG	0.378		NaN											0	0	0	0.00308	0	8	61				
MANSC1	54682	broad.mit.edu	37	12	12491411	12491411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:12491411C>T	uc001rai.1	-	3	565	c.307G>A	c.(307-309)GAG>AAG	p.E103K	MANSC1_uc010shm.1_Missense_Mutation_p.E37K|MANSC1_uc001raj.1_Missense_Mutation_p.E69K|MANSC1_uc009zht.1_Missense_Mutation_p.E22K	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	103	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CAGGCTTCCTCGTTGGGACAG	0.383		NaN											0	0	0	0.001984	0	5	159				
PIK3C2G	5288	broad.mit.edu	37	12	18552648	18552648	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:18552648G>A	uc001rdt.2	+	15	2175	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E728K|PIK3C2G_uc010sic.1_Missense_Mutation_p.E506K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	687					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				CTGCAATAATGAAAACTGCTC	0.388		NaN											0	0	0	0.005443	0	24	48				
ABCC9	10060	broad.mit.edu	37	12	22063765	22063765	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:22063765G>C	uc001rfi.1	-	7	1179	c.1159C>G	c.(1159-1161)CTG>GTG	p.L387V	ABCC9_uc001rfh.2_Missense_Mutation_p.L387V|ABCC9_uc001rfj.1_Missense_Mutation_p.L387V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	387	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATACCAGCAGAGCTCCACGG	0.393		NaN											0	0	0	0.008871	0	7	105				
FMNL3	91010	broad.mit.edu	37	12	50044977	50044977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50044977C>T	uc001ruv.1	-	16	2005	c.1771G>A	c.(1771-1773)GAA>AAA	p.E591K	FMNL3_uc001ruw.1_Missense_Mutation_p.E540K|FMNL3_uc001rut.1_Missense_Mutation_p.E157K|FMNL3_uc001ruu.1_Missense_Mutation_p.E441K	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	591	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						TCATCAAGTTCGCTGAAGACA	0.512		NaN											0	0	0	0.008291	0	10	141				
LIMA1	51474	broad.mit.edu	37	12	50642443	50642443	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50642443G>A	uc001rwj.3	-	2	266	c.92C>T	c.(91-93)TCA>TTA	p.S31L	LIMA1_uc001rwk.3_Missense_Mutation_p.S31L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	31					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						AATAGCCGATGACTTGTTCTT	0.438		NaN											0	0	0	0.010771	0	41	50				
KRT79	338785	broad.mit.edu	37	12	53227849	53227849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53227849C>T	uc001sbb.2	-	1	229	c.196G>A	c.(196-198)GGG>AGG	p.G66R		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	66	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TTGTGGCCCCCCAAGTTATAG	0.642		NaN											0	0	0	0.007291	0	28	31				
ESPL1	9700	broad.mit.edu	37	12	53676185	53676185	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53676185C>G	uc001sck.2	+	14	2848	c.2757C>G	c.(2755-2757)CTC>CTG	p.L919L	ESPL1_uc001scj.2_Silent_p.L594L|ESPL1_uc010soe.1_Silent_p.L130L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	919					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CAAACAACCTCTCACACTCCC	0.572		NaN											0	0	0	0.001168	0	5	63				
TIMELESS	8914	broad.mit.edu	37	12	56825382	56825382	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56825382C>T	uc001slf.2	-	8	862	c.694G>A	c.(694-696)GAG>AAG	p.E232K	TIMELESS_uc001slg.2_Missense_Mutation_p.E231K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	232					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						GCCAGCTGCTCGGGGTTCTAG	0.517		NaN											0	0	0	0.000602	0	4	60				
CDK4	1019	broad.mit.edu	37	12	58144834	58144834	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144834G>C	uc001spv.2	-	4	621	c.394C>G	c.(394-396)CAT>GAT	p.H132D	CDK4_uc010ssb.1_Missense_Mutation_p.H12D|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	132	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAATTGGCATGAAGGAAATCT	0.488		NaN	Mis			melanoma 			Hereditary_Melanoma				0	0	0	0.001168	0	6	75				
CDK4	1019	broad.mit.edu	37	12	58144855	58144855	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144855G>C	uc001spv.2	-	4	600	c.373C>G	c.(373-375)CTA>GTA	p.L125V	CDK4_uc010ssb.1_Missense_Mutation_p.L5V|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	125	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGGCCTCTTAGAAACTGGCGC	0.483		NaN	Mis			melanoma 			Hereditary_Melanoma				0	0	0	0.000602	0	4	68				
SLC6A15	55117	broad.mit.edu	37	12	85266414	85266414	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:85266414G>C	uc001szv.2	-	8	1762	c.1269C>G	c.(1267-1269)CTC>CTG	p.L423L	SLC6A15_uc010sul.1_Silent_p.L316L|SLC6A15_uc001szw.1_Silent_p.L131L	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	423	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						TACAGGAATTGAGATGAAGAG	0.318		NaN											0	0	0	0.012213	0	29	48				
PLXNC1	10154	broad.mit.edu	37	12	94543416	94543416	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:94543416C>G	uc001tdc.2	+	1	918	c.669C>G	c.(667-669)CTC>CTG	p.L223L		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	223	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TGGGGCGCCTCAAGCTGTGCG	0.687		NaN											0	0	0	0.004672	0	3	3				
SYCP3	50511	broad.mit.edu	37	12	102122982	102122982	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:102122982C>T	uc001tiq.2	-	8	694	c.562G>A	c.(562-564)GAG>AAG	p.E188K	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.E188K|SYCP3_uc001tis.2_Missense_Mutation_p.E188K	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	188	Potential.|Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						TTCTCCAACTCTTCCATACTC	0.289		NaN											0	0	0	0.007291	0	25	37				
HCFC2	29915	broad.mit.edu	37	12	104487163	104487163	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:104487163G>A	uc001tkj.3	+	10	1388	c.1285_splice	c.e10-1	p.I429_splice	HCFC2_uc009zul.2_Splice_Site	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						ATTTCTTGTAGATCAATGATA	0.279		NaN											0	0	0	0.001984	0	7	49				
MMAB	326625	broad.mit.edu	37	12	110002929	110002929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:110002929G>A	uc001tou.2	-	4	416	c.343C>T	c.(343-345)CAG>TAG	p.Q115*	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Nonsense_Mutation_p.Q24*|MMAB_uc001tox.2_Nonsense_Mutation_p.Q63*	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	115					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACTTTCTGAAGCTCTTCG	0.408		NaN											0	0	0	0.003954	0	19	226				
NAA25	80018	broad.mit.edu	37	12	112512548	112512548	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:112512548T>C	uc001ttm.2	-	9	817	c.797A>G	c.(796-798)TAT>TGT	p.Y266C	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Y238C|NAA25_uc009zwa.1_Missense_Mutation_p.Y266C	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	266						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ATAAGTCAGATAGAACTGCCA	0.398		NaN											0	0	0	0.01441	0	72	106				
OASL	8638	broad.mit.edu	37	12	121465572	121465572	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:121465572G>C	uc001tzj.1	-	4	712	c.706C>G	c.(706-708)CTT>GTT	p.L236V	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	236					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAGTTCAAGAGCATAGAGA	0.473		NaN											0	0	0	0.009096	0	3	78				
GPR81	27198	broad.mit.edu	37	12	123214255	123214255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214255C>G	uc001ucz.2	-	1	875	c.632G>C	c.(631-633)AGA>ACA	p.R211T	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	211	Cytoplasmic (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCGAGCCTGTCTGGCCAGCTG	0.527		NaN											0	0	0	0.012213	0	28	38				
GPR81	27198	broad.mit.edu	37	12	123214498	123214498	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214498C>T	uc001ucz.2	-	1	632	c.389G>A	c.(388-390)CGG>CAG	p.R130Q	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	130	Cytoplasmic (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGCCGCCACCCGGGTGGAGAT	0.602		NaN											0	0	0	0.01441	0	43	54				
FLT3	2322	broad.mit.edu	37	13	28601286	28601286	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:28601286C>G	uc001urw.2	-	17	2228	c.2146G>C	c.(2146-2148)GAG>CAG	p.E716Q	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.E716Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	716	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAAATCTCTGTCCAAGTC	0.358		NaN	Mis|O		AML|ALL								0	0	0	0.014323	0	18	244				
FRY	10129	broad.mit.edu	37	13	32757127	32757127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:32757127G>C	uc001utx.2	+	24	3506	c.3010G>C	c.(3010-3012)GAA>CAA	p.E1004Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGGTAGAAGAACTTCATCC	0.313		NaN											0	0	0	0.001984	0	7	78				
ITM2B	9445	broad.mit.edu	37	13	48832951	48832951	+	Missense_Mutation	SNP	C	C	G	rs11556901		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48832951C>G	uc001vbz.3	+	5	806	c.583C>G	c.(583-585)CAG>GAG	p.Q195E		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	195	BRICHOS.|Lumenal (Potential).				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding				0		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTATTTGCCTCAGTCCTATCT	0.373		NaN											0	0	0	0.001984	0	5	61				
RB1	5925	broad.mit.edu	37	13	48934194	48934194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48934194C>T	uc001vcb.2	+	7	815	c.649C>T	c.(649-651)CAG>TAG	p.Q217*	RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	217					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.Q217*(2)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATTTCATTTCAGTTAATGCT	0.308		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.01441	0	67	17		Valid		
CKAP2	26586	broad.mit.edu	37	13	53039469	53039469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53039469C>T	uc001vgv.2	+	6	1545	c.1348C>T	c.(1348-1350)CTG>TTG	p.L450L	CKAP2_uc001vgt.2_Silent_p.L449L|CKAP2_uc001vgu.2_Silent_p.L449L|CKAP2_uc010tha.1_Silent_p.L401L	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	450					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ACTGAATGACCTGATTAAAAA	0.303		NaN											0	0	0	0.001984	0	5	173				
PCDH8	5100	broad.mit.edu	37	13	53420766	53420766	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53420766C>G	uc001vhi.2	-	1	2009	c.1806G>C	c.(1804-1806)CAG>CAC	p.Q602H	PCDH8_uc001vhj.2_Missense_Mutation_p.Q602H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	602	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CATGGTCGTTCTGGTCCAGCA	0.662		NaN											0	0	0	0.00308	0	5	10				
DZIP1	22873	broad.mit.edu	37	13	96246297	96246297	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:96246297T>C	uc001vmk.2	-	16	2433	c.1581A>G	c.(1579-1581)TTA>TTG	p.L527L	DZIP1_uc001vmj.2_Silent_p.L3L|DZIP1_uc001vml.2_Silent_p.L508L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	527					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAGCTTTCCTTAAATGCATTT	0.333		NaN											0	0	0	0.012213	0	34	66				
GAS6	2621	broad.mit.edu	37	13	114523972	114523972	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:114523972C>T	uc001vud.2	-	15	2055	c.1902G>A	c.(1900-1902)GCG>GCA	p.A634A	GAS6_uc001vug.2_Silent_p.A335A|GAS6_uc001vuf.2_Silent_p.A361A	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	677	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGGTGACTGGCGCTGAAGTCA	0.672		NaN											0	0	0	0.001984	0	4	67				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	0.004672	0	3	14				
SALL2	6297	broad.mit.edu	37	14	21993420	21993420	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:21993420C>T	uc001wbe.2	-	2	724	c.442G>A	c.(442-444)GGA>AGA	p.G148R	SALL2_uc010tly.1_Missense_Mutation_p.G146R|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	148							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGGTTGCTCCCAGCTTGGGA	0.652		NaN											0	0	0	0.01441	0	46	73				
HECTD1	25831	broad.mit.edu	37	14	31626439	31626439	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:31626439C>T	uc001wrc.1	-	11	2182	c.1693G>A	c.(1693-1695)GAT>AAT	p.D565N	HECTD1_uc001wrd.1_Missense_Mutation_p.D80N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	565					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACATCAGAATCACAAACTTCT	0.338		NaN											0	0	0	0.01441	0	74	87				
KTN1	3895	broad.mit.edu	37	14	56142555	56142555	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:56142555G>A	uc001xcb.2	+	42	4076	c.3774G>A	c.(3772-3774)TTG>TTA	p.L1258L	KTN1_uc001xce.2_Silent_p.L1201L|KTN1_uc001xcc.2_Silent_p.L1258L|KTN1_uc001xcd.2_Silent_p.L1207L|KTN1_uc010trb.1_Silent_p.L1230L|KTN1_uc001xcf.1_Silent_p.L1207L|KTN1_uc010aoq.2_Silent_p.L496L|KTN1_uc010trc.1_Silent_p.L235L|KTN1_uc001xcg.2_Silent_p.L191L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	1258	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TTTTACAGTTGAAGGCACAGT	0.368		NaN	T	RET	papillary thryoid								0	0	0	0.014323	0	22	32				
KIAA0586	9786	broad.mit.edu	37	14	58954657	58954657	+	Silent	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:58954657T>G	uc001xdv.3	+	22	3402	c.3129T>G	c.(3127-3129)ACT>ACG	p.T1043T	KIAA0586_uc010trr.1_Silent_p.T1160T|KIAA0586_uc001xdt.3_Silent_p.T1075T|KIAA0586_uc001xdu.3_Silent_p.T1104T|KIAA0586_uc010trs.1_Silent_p.T1034T|KIAA0586_uc010trt.1_Silent_p.T979T|KIAA0586_uc010tru.1_Silent_p.T979T	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1043										ovary(1)	1						TTACCCCTACTACTACACCTC	0.418		NaN											0	0	0	0.010729	0	10	19				
SYNE2	23224	broad.mit.edu	37	14	64619413	64619413	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:64619413G>C	uc001xgm.2	+	85	16001	c.15771G>C	c.(15769-15771)AAG>AAC	p.K5257N	SYNE2_uc001xgl.2_Missense_Mutation_p.K5257N|SYNE2_uc010apy.2_Missense_Mutation_p.K1642N|SYNE2_uc001xgn.2_Missense_Mutation_p.K219N|SYNE2_uc001xgo.2_RNA	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5257	Spectrin 3.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTTCAAAAGAGAAGCAGTG	0.373		NaN											0	0	0	0.001984	0	5	85				
ZFYVE26	23503	broad.mit.edu	37	14	68260378	68260378	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:68260378C>G	uc001xka.2	-	14	2639	c.2500G>C	c.(2500-2502)GAG>CAG	p.E834Q	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E834Q	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	834					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGTGACTCAGGTGGGGAG	0.552		NaN											0	0	0	0.01441	0	44	24				
PSEN1	5663	broad.mit.edu	37	14	73637508	73637508	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:73637508G>A	uc001xnr.2	+	4	375	c.91G>A	c.(91-93)GAC>AAC	p.D31N	PSEN1_uc001xnv.2_Missense_Mutation_p.D27N|PSEN1_uc010ark.2_Missense_Mutation_p.D27N|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.D31N	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	31	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTATAGAATGACAATAGAGA	0.483		NaN											0	0	0	0.000602	0	4	39				
LIN52	91750	broad.mit.edu	37	14	74567922	74567922	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74567922T>C	uc001xpp.2	+	5	286	c.276T>C	c.(274-276)TAT>TAC	p.Y92Y	LIN52_uc010asb.2_Intron	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	lin-52 homolog	92										breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00471)		ACCTAGCCTATCAGCTGGGGC	0.488		NaN											0	0	0	0.012213	0	28	71				
C14orf115	55237	broad.mit.edu	37	14	74825046	74825046	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74825046G>C	uc001xpw.3	+	2	1751	c.1560G>C	c.(1558-1560)CTG>CTC	p.L520L		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	520					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GGCAGGTGCTGAGTGGGCATC	0.672		NaN											0	0	0	0.01441	0	43	100				
GSTZ1	2954	broad.mit.edu	37	14	77797454	77797454	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:77797454C>G	uc001xtj.2	+	9	849	c.567C>G	c.(565-567)ATC>ATG	p.I189M	GSTZ1_uc001xtk.2_Missense_Mutation_p.I147M|GSTZ1_uc010ass.2_Missense_Mutation_p.I134M|GSTZ1_uc001xtm.2_Missense_Mutation_p.I134M	NM_145870	NP_665877	O43708	MAAI_HUMAN	glutathione transferase zeta 1 isoform 1	189	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCAGCTCCATCAACAAGAGGC	0.567		NaN											0	0	0	0.01441	0	54	47				
SERPINA9	327657	broad.mit.edu	37	14	94936059	94936059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:94936059G>C	uc001ydf.2	-	2	334	c.173C>G	c.(172-174)CCT>CGT	p.P58R	SERPINA9_uc001yde.2_Missense_Mutation_p.P58R|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.P58R|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	40					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTGTGAGGCAGGGGTGCTCTT	0.577		NaN											0	0	0	0.013537	0	10	73				
RAGE	5891	broad.mit.edu	37	14	102718331	102718331	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:102718331C>G	uc001ylm.2	-	5	511	c.285G>C	c.(283-285)GGG>GGC	p.G95G	RAGE_uc010txv.1_Silent_p.G65G|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	95	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GGTATCTTCTCCCTGTACAAT	0.318		NaN											0	0	0	0.001168	0	5	71				
KIF26A	26153	broad.mit.edu	37	14	104642805	104642805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:104642805G>A	uc001yos.3	+	12	3680	c.3680G>A	c.(3679-3681)CGC>CAC	p.R1227H		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1227					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCTGTGCTCGCCTGGGCCAG	0.701		NaN											0	0	0	0.00499	0	16	21				
NUSAP1	51203	broad.mit.edu	37	15	41657646	41657646	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:41657646G>C	uc001zns.3	+	7	937	c.707G>C	c.(706-708)AGA>ACA	p.R236T	NUSAP1_uc001znq.3_Missense_Mutation_p.R41T|NUSAP1_uc001znr.3_Missense_Mutation_p.R235T|NUSAP1_uc010bce.2_Missense_Mutation_p.R236T|NUSAP1_uc001znt.3_Missense_Mutation_p.R221T|NUSAP1_uc001znv.3_Missense_Mutation_p.R234T|NUSAP1_uc001znu.3_Missense_Mutation_p.R235T|NUSAP1_uc010ucw.1_Missense_Mutation_p.R212T|NUSAP1_uc001znw.3_Missense_Mutation_p.R40T	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	236					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTACCTCCAAGAGGAAGACTC	0.493		NaN											0	0	0	0.00308	0	6	6				
SHC4	399694	broad.mit.edu	37	15	49255156	49255156	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:49255156G>T	uc001zxb.1	-	1	486	c.57C>A	c.(55-57)TTC>TTA	p.F19L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	19	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGGGGTGCCCGAAGAGTCCTA	0.592		NaN											1	0	4.85316e-53	0.01441	5.28836e-53	81	27				
IGDCC4	57722	broad.mit.edu	37	15	65702611	65702611	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:65702611C>T	uc002aou.1	-	3	678	c.468G>A	c.(466-468)GAG>GAA	p.E156E		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	156	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane		p.E156V(1)		ovary(1)|pancreas(1)|skin(1)	3						CTGTCCCGTTCTCCTCCACCG	0.577		NaN											0	0	0	0.000602	0	3	59				
MPI	4351	broad.mit.edu	37	15	75183866	75183866	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:75183866C>T	uc002azc.1	+	3	296	c.291C>T	c.(289-291)CTC>CTT	p.L97L	MPI_uc010ulv.1_Silent_p.L97L|MPI_uc010ulw.1_Silent_p.L47L|MPI_uc002azd.1_Silent_p.L97L|MPI_uc010ulx.1_Silent_p.L47L|MPI_uc002aze.1_Silent_p.L97L	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	97					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						TGCCCTTCCTCTTCAAAGTGC	0.527		NaN											0	0	0	0.006122	0	18	108				
UNC45A	55898	broad.mit.edu	37	15	91483695	91483695	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:91483695C>G	uc002bqg.2	+	6	1019	c.679C>G	c.(679-681)CAG>GAG	p.Q227E	UNC45A_uc002bqd.2_Missense_Mutation_p.Q212E|UNC45A_uc010uqo.1_Missense_Mutation_p.Q219E|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.Q227E	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	227					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTGAGCATCAGTCACGGGT	0.433		NaN											0	0	0	0.00308	0	6	37				
WDR90	197335	broad.mit.edu	37	16	700002	700002	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:700002G>A	uc002cii.1	+	3	168	c.114G>A	c.(112-114)CTG>CTA	p.L38L	WDR90_uc002cig.1_Silent_p.L38L|WDR90_uc002cih.1_Silent_p.L38L|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	38										ovary(1)	1		Hepatocellular(780;0.0218)				ACAAGACCCTGAAGGGCGCCG	0.667		NaN											0	0	0	0.008291	0	11	53				
TIGD7	91151	broad.mit.edu	37	16	3349173	3349173	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3349173C>T	uc002cus.2	-	1	2228	c.1442G>A	c.(1441-1443)AGA>AAA	p.R481K	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	481					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CAAACTCTCTCTTACAGCAGA	0.393		NaN											0	0	0	0.01441	0	74	15				
CREBBP	1387	broad.mit.edu	37	16	3820785	3820785	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3820785G>C	uc002cvv.2	-	14	2870	c.2666C>G	c.(2665-2667)TCA>TGA	p.S889*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.S851*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	889					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACAGGAGTTGATGGCTGAGT	0.642		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.00308	0	6	35		Valid		
GP2	2813	broad.mit.edu	37	16	20331027	20331027	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20331027C>G	uc002dgv.2	-	7	1014	c.931G>C	c.(931-933)GAC>CAC	p.D311H	GP2_uc002dgw.2_Missense_Mutation_p.D308H|GP2_uc002dgx.2_Missense_Mutation_p.D164H|GP2_uc002dgy.2_Missense_Mutation_p.D161H	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	311	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						AGGATGGTGTCTCTGATGATG	0.438		NaN											0	0	0	0.01441	0	117	23				
ACSM2B	348158	broad.mit.edu	37	16	20552067	20552067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20552067G>T	uc002dhj.3	-	14	1748	c.1538C>A	c.(1537-1539)TCG>TAG	p.S513*	ACSM2B_uc002dhk.3_Nonsense_Mutation_p.S513*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	513					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						TAGGAACTGCGAGGCCAGGAT	0.478		NaN											1	0	8.16569e-41	0.01441	8.77867e-41	67	13				
ZNF689	115509	broad.mit.edu	37	16	30616005	30616005	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616005G>C	uc002dyx.2	-	3	1403	c.1083C>G	c.(1081-1083)CTC>CTG	p.L361L	ZNF689_uc010bzy.2_Missense_Mutation_p.S17C	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	361	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCTGGTGCTGGAGCAGCGTGC	0.687		NaN											0	0	0	0.009096	0	2	9				
ZNF689	115509	broad.mit.edu	37	16	30616651	30616651	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616651G>A	uc002dyx.2	-	3	757	c.437C>T	c.(436-438)TCC>TTC	p.S146F	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGGGCCCCCGGACGTCTGCCT	0.602		NaN											0	0	0	0.003163	0	12	76				
KCTD19	146212	broad.mit.edu	37	16	67323532	67323532	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:67323532C>G	uc002esu.2	-	16	2772	c.2721G>C	c.(2719-2721)CAG>CAC	p.Q907H	KCTD19_uc002est.2_Missense_Mutation_p.Q679H|KCTD19_uc010vjj.1_Missense_Mutation_p.Q650H	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	907						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACAGGCCCCTCTGGATGAGCA	0.562		NaN											0	0	0	0.01441	0	60	15				
CDH13	1012	broad.mit.edu	37	16	83704469	83704469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:83704469C>T	uc002fgx.2	+	9	1296	c.1176C>T	c.(1174-1176)ACC>ACT	p.T392T	CDH13_uc010vns.1_Silent_p.T439T|CDH13_uc010vnt.1_Silent_p.T138T|CDH13_uc010vnu.1_Silent_p.T353T	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	392	Cadherin 3.			T -> A (in Ref. 4; AAH28624/AAH30653).	adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATGACCCCACCACAGGTGCAT	0.498		NaN											0	0	0	0.01441	0	47	6				
MYO1C	4641	broad.mit.edu	37	17	1370776	1370776	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:1370776G>A	uc002fsp.2	-	30	3283	c.3063C>T	c.(3061-3063)GGC>GGT	p.G1021G	MYO1C_uc002fsn.2_Silent_p.G1002G|MYO1C_uc002fso.2_Silent_p.G986G	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	1021					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTCACCTGCCCTGGTTGA	0.677		NaN											0	0	0	0.010729	0	10	68				
TEKT1	83659	broad.mit.edu	37	17	6703366	6703366	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:6703366G>A	uc002gdt.2	-	8	1347	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C	TEKT1_uc010vth.1_Missense_Mutation_p.R267C	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	413					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				GCATCAGGGCGGAGGCCCCCA	0.488		NaN											0	0	0	0.01441	0	63	105				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	63	11		Valid		
PIGL	9487	broad.mit.edu	37	17	16137360	16137360	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:16137360C>G	uc002gpv.2	+	2	343	c.311C>G	c.(310-312)TCC>TGC	p.S104C	PIGL_uc010vwd.1_Missense_Mutation_p.S104C	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	104	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ATTCCACTCTCCAGTGTAATG	0.333		NaN											0	0	0	0.01441	0	79	8				
FAM83G	644815	broad.mit.edu	37	17	18880947	18880947	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:18880947C>G	uc002guw.2	-	5	2199	c.2032G>C	c.(2032-2034)GAT>CAT	p.D678H	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	678										ovary(1)|central_nervous_system(1)	2						TTCAACGCATCTGCTTCTTCT	0.652		NaN											0	0	0	0.013537	0	10	60				
MAPK7	5598	broad.mit.edu	37	17	19285429	19285429	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:19285429C>T	uc002gvn.2	+	5	2199	c.1813C>T	c.(1813-1815)CCT>TCT	p.P605S	MAPK7_uc002gvo.2_Missense_Mutation_p.P466S|MAPK7_uc002gvq.2_Missense_Mutation_p.P605S|MAPK7_uc002gvp.2_Missense_Mutation_p.P605S|uc010vyt.1_5'Flank	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	605	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACCTACCAGTCCTCCTCCTGG	0.423		NaN											0	0	0	0.003163	0	13	0				
DHRS7B	25979	broad.mit.edu	37	17	21086979	21086979	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:21086979G>A	uc002gyo.2	+	4	409	c.382G>A	c.(382-384)GAG>AAG	p.E128K		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	128	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						AGCAGCAGCTGAGATCCTGCA	0.498		NaN											0	0	0	0.009535	0	27	37				
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:29857477C>T	uc002hgn.1	+	14	2016	c.1787C>T	c.(1786-1788)TCG>TTG	p.S596L	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582		NaN											0	0	0	0.01441	0	67	61				
RAD51L3	5892	broad.mit.edu	37	17	33430494	33430494	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:33430494G>A	uc002hir.2	-	7	902	c.646C>T	c.(646-648)CTG>TTG	p.L216L	RFFL_uc002hiq.2_Silent_p.L57L|RAD51L3_uc010ctj.2_Missense_Mutation_p.S34F|RAD51L3_uc010wcd.1_Silent_p.L236L|RAD51L3_uc002his.2_Silent_p.L104L|RAD51L3_uc010ctk.2_Silent_p.L97L|RAD51L3_uc010wce.1_Silent_p.L97L|RAD51L3_uc002hit.2_Silent_p.L97L|RAD51L3_uc002hiu.2_Silent_p.L39L	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	216					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGACCTCCCAGAAGTGGGGAA	0.592		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.01441	0	47	66				
MED1	5469	broad.mit.edu	37	17	37587411	37587411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:37587411C>G	uc002hrv.3	-	9	818	c.606G>C	c.(604-606)AAG>AAC	p.K202N	MED1_uc010wee.1_Missense_Mutation_p.K30N|MED1_uc002hru.2_Missense_Mutation_p.K202N	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	202	Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATGAAGAATCTTATCCAAGG	0.393		NaN								HNSCC(31;0.082)			0	0	0	0.01441	0	83	114				
KRT33A	3883	broad.mit.edu	37	17	39502796	39502796	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39502796C>A	uc002hwk.1	-	6	1038	c.1001G>T	c.(1000-1002)CGG>CTG	p.R334L		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	334	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CTGGTTCTGCCGCTCCAGGTC	0.632		NaN											1	0	5.78178e-49	0.01441	6.24931e-49	84	108				
KRT34	3885	broad.mit.edu	37	17	39538044	39538044	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39538044G>C	uc002hwm.2	-	2	490	c.478C>G	c.(478-480)CTG>GTG	p.L160V		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	160	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TTGGCACACAGAATCTGAAAA	0.483		NaN											0	0	0	0.01441	0	39	45				
UBTF	7343	broad.mit.edu	37	17	42284923	42284923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:42284923C>T	uc002igb.2	-	19	2135	c.2068G>A	c.(2068-2070)GAG>AAG	p.E690K	UBTF_uc002igc.2_Missense_Mutation_p.E653K|UBTF_uc010czs.2_Missense_Mutation_p.E690K|UBTF_uc002igd.2_Missense_Mutation_p.E653K|UBTF_uc010czt.2_Missense_Mutation_p.E690K	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	690	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		tcttcatcctcgtcctcgtca	0.428		NaN											0	0	0	0.004007	0	16	26				
MAPT	4137	broad.mit.edu	37	17	44067367	44067368	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067367_44067368CC>AT	uc002ijr.3	+	8	1626_1627	c.1306_1307CC>AT	c.(1306-1308)CCT>ATT	p.P436I	MAPT_uc010dau.2_Missense_Mutation_p.P436I|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	436					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CCCAGAGCCACCTTCCTCTCCT	0.515		NaN											0	0	0	0.004672	0	126	151				
MAPT	4137	broad.mit.edu	37	17	44067427	44067427	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067427G>A	uc002ijr.3	+	8	1686	c.1366G>A	c.(1366-1368)GAG>AAG	p.E456K	MAPT_uc010dau.2_Missense_Mutation_p.E456K|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	456					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				TGGAGCAAAGGAGATGAAACT	0.453		NaN											0	0	0	0.00623	0	31	44				
TTLL6	284076	broad.mit.edu	37	17	46863537	46863537	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:46863537C>T	uc010wlo.1	-	13	1785	c.1750G>A	c.(1750-1752)GCC>ACC	p.A584T	TTLL6_uc002iob.2_Missense_Mutation_p.A277T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A337T|TTLL6_uc002iod.2_Missense_Mutation_p.A431T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	536						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0						TGTTTGGAGGCTTGGGTGGCG	0.587		NaN											0	0	0	0.01441	0	231	305				
SPOP	8405	broad.mit.edu	37	17	47699430	47699430	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:47699430C>A	uc010dbk.2	-	4	711	c.79_splice	c.e4-1	p.I27_splice	SPOP_uc002ipb.2_Splice_Site_p.I27_splice|SPOP_uc002ipc.2_Splice_Site_p.I27_splice|SPOP_uc002ipd.2_Splice_Site_p.I27_splice|SPOP_uc002ipe.2_Splice_Site_p.I27_splice|SPOP_uc002ipf.2_Splice_Site_p.I27_splice|SPOP_uc002ipg.2_Splice_Site_p.I27_splice	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein						mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CTACCTTGATCTGTTGATAGA	0.398		NaN								Prostate(2;0.17)			1	0	5.03518e-11	0.007413	5.31344e-11	14	21				
UTP18	51096	broad.mit.edu	37	17	49337968	49337968	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:49337968G>A	uc002its.2	+	1	72	c.23G>A	c.(22-24)CGA>CAA	p.R8Q	MBTD1_uc002itr.3_5'Flank|MBTD1_uc002itq.3_5'Flank	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	8					rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CGGAGGAGACGAATGAAACTG	0.687		NaN											0	0	0	0.006214	0	7	19				
MARCH10	162333	broad.mit.edu	37	17	60813767	60813767	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:60813767C>A	uc010ddr.2	-	6	1700	c.1462G>T	c.(1462-1464)GAC>TAC	p.D488Y	MARCH10_uc002jag.3_Missense_Mutation_p.D488Y|MARCH10_uc010dds.2_Missense_Mutation_p.D526Y|MARCH10_uc002jah.2_Missense_Mutation_p.D487Y|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	488							ligase activity|zinc ion binding				0						ATTGACAAGTCTACTGGAATA	0.433		NaN											1	0	6.31663e-08	0.003163	6.56209e-08	13	133				
GPR142	350383	broad.mit.edu	37	17	72368385	72368385	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:72368385G>A	uc010wqy.1	+	4	1035	c.1035G>A	c.(1033-1035)CGG>CGA	p.R345R	GPR142_uc010wqx.1_Silent_p.R257R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	345	Cytoplasmic (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGAGGGGCCGGAGTGGGCTGC	0.627		NaN											0	0	0	0.00632	0	27	33				
NUP85	79902	broad.mit.edu	37	17	73231773	73231773	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73231773G>A	uc002jng.1	+	19	2230	c.1970G>A	c.(1969-1971)TGA>TAA	p.*657*	NUP85_uc010dgd.1_Silent_p.*612*|NUP85_uc010wrv.1_Silent_p.*611*|NUP85_uc002jnh.1_Silent_p.*260*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	657					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GAAGGTTCCTGAGAACTGCTT	0.398		NaN											0	0	0	0.008291	0	8	70				
SAP30BP	29115	broad.mit.edu	37	17	73695901	73695901	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695901G>A	uc002jpe.2	+	5	400	c.346G>A	c.(346-348)GAA>AAA	p.E116K	SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E100K	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	116					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCGCCTGATGAAATCAAGAT	0.428		NaN											0	0	0	0.01441	0	73	175				
SAP30BP	29115	broad.mit.edu	37	17	73695932	73695932	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695932G>C	uc002jpe.2	+	5	431	c.377G>C	c.(376-378)AGA>ACA	p.R126T	SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R110T	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	126					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCTGGCAGATGTTCAAAT	0.453		NaN											0	0	0	0.01441	0	53	152				
EIF4A3	9775	broad.mit.edu	37	17	78111277	78111277	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:78111277C>T	uc010wuc.1	-	10	964	c.891G>A	c.(889-891)ATG>ATA	p.M297I	EIF4A3_uc002jxs.2_Missense_Mutation_p.M297I	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	297	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGCTTCCCTCATTTTCTCCG	0.517		NaN											0	0	0	0.00632	0	24	24				
NDC80	10403	broad.mit.edu	37	18	2578034	2578034	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2578034G>C	uc002kli.2	+	5	552	c.370G>C	c.(370-372)GAC>CAC	p.D124H		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	124	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1						CTCTGTTAAAGACTTCCTGAA	0.368		NaN											0	0	0	0.006214	0	8	246				
LPIN2	9663	broad.mit.edu	37	18	2921615	2921615	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2921615G>A	uc002klo.2	-	18	2597	c.2358C>T	c.(2356-2358)TTC>TTT	p.F786F		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	786	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACTCAATTTTGAACTTCTCTG	0.393		NaN											0	0	0	0.004482	0	8	204				
EPB41L3	23136	broad.mit.edu	37	18	5489114	5489114	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:5489114C>A	uc002kmt.1	-	2	155	c.69G>T	c.(67-69)GCG>GCT	p.A23A	EPB41L3_uc010wzh.1_Silent_p.A23A|EPB41L3_uc002kmu.1_Silent_p.A23A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A45A|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	23					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						cctgcgcccccgccgccTCCT	0.517		NaN											1	0	1.30293e-26	0.003271	1.397e-26	31	57				
PPP4R1	9989	broad.mit.edu	37	18	9570582	9570582	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:9570582C>T	uc002koe.1	-	11	1264	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.T228T|PPP4R1_uc002kod.1_Silent_p.T365T|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	382					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						GGTCTTCCATCGTGTTTTCCA	0.478		NaN											0	0	0	0.01441	0	161	79				
AFG3L2	10939	broad.mit.edu	37	18	12367072	12367072	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:12367072G>C	uc002kqz.1	-	5	557	c.444C>G	c.(442-444)CTC>CTG	p.L148L		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	148	Helical; (Potential).				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	GAGCAGTCCAGAGGAAGAACA	0.453		NaN											0	0	0	0.013537	0	11	192				
ANKRD30B	374860	broad.mit.edu	37	18	14764040	14764040	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:14764040T>C	uc010dlo.2	+	7	1356	c.1176T>C	c.(1174-1176)AAT>AAC	p.N392N	ANKRD30B_uc010xak.1_RNA	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	392										ovary(1)|skin(1)	2						GAACATCTAATATGATTGCAT	0.383		NaN											0	0	0	0.004289	0	32	9				
ZNF521	25925	broad.mit.edu	37	18	22807046	22807046	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:22807046G>A	uc002kvk.2	-	4	1083	c.836C>T	c.(835-837)GCG>GTG	p.A279V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A279V|ZNF521_uc002kvl.2_Missense_Mutation_p.A59V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	279					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGAGGGCCGCTCGGTCCTC	0.557		NaN	T	PAX5	ALL								0	0	0	0.004672	0	3	55				
DSC3	1825	broad.mit.edu	37	18	28588292	28588292	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28588292G>A	uc002kwj.3	-	10	1618	c.1463C>T	c.(1462-1464)TCA>TTA	p.S488L	DSC3_uc002kwi.3_Missense_Mutation_p.S488L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	488	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTGATCTTTGACCCCACTGC	0.403		NaN											0	0	0	0.001168	0	5	22				
DSG4	147409	broad.mit.edu	37	18	28972175	28972175	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28972175A>G	uc002kwq.2	+	8	1012	c.877A>G	c.(877-879)ATT>GTT	p.I293V	DSG4_uc002kwr.2_Missense_Mutation_p.I293V	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	293	Cadherin 3.|Extracellular (Potential).		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTACAAGCAATTGATCTTGA	0.343		NaN											0	0	0	0.008291	0	9	54				
MC4R	4160	broad.mit.edu	37	18	58038604	58038604	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:58038604C>T	uc002lie.1	-	1	1398	c.979G>A	c.(979-981)GAC>AAC	p.D327N		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	327	Cytoplasmic (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				CTAGACAAGTCACAAAGGCCT	0.418		NaN											0	0	0	0.01441	0	41	23				
ATP9B	374868	broad.mit.edu	37	18	77089190	77089190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:77089190G>C	uc002lmx.2	+	16	1837	c.1823G>C	c.(1822-1824)AGG>ACG	p.R608T	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.R608T|ATP9B_uc002lmz.1_Missense_Mutation_p.R302T	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	608	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGGTCAGCAGGGACCTCACC	0.622		NaN											0	0	0	0.001168	0	6	16				
PIAS4	51588	broad.mit.edu	37	19	4028756	4028756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4028756G>C	uc002lzg.2	+	6	721	c.711G>C	c.(709-711)AAG>AAC	p.K237N		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	237	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCCCAAGAGGCCGTGCC	0.647		NaN											0	0	0	0.006214	0	7	32				
PLIN4	729359	broad.mit.edu	37	19	4511893	4511893	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4511893C>G	uc002mar.1	-	3	2037	c.2037G>C	c.(2035-2037)CTG>CTC	p.L679L	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	679	18.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0						TGGTGCCGGTCAGCACGGTCT	0.577		NaN											0	0	0	0.00245	0	11	252				
UHRF1	29128	broad.mit.edu	37	19	4944248	4944248	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4944248C>G	uc002mbo.2	+	8	1346	c.1178C>G	c.(1177-1179)TCA>TGA	p.S393*	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Nonsense_Mutation_p.S406*	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	393	Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACATCGTCCTCACAGCGGGAC	0.652		NaN											0	0	0	0.001168	0	4	39				
GPR108	56927	broad.mit.edu	37	19	6732095	6732095	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:6732095C>T	uc002mfp.2	-	13	1243	c.1197G>A	c.(1195-1197)AAG>AAA	p.K399K	GPR108_uc010duv.2_5'UTR|GPR108_uc002mfn.2_Silent_p.K70K|GPR108_uc002mfo.3_Silent_p.K157K|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	399						integral to membrane					0						ACAAAATCTCCTTCCACAGCA	0.652		NaN											0	0	0	0.001855	0	12	4				
ZNF823	55552	broad.mit.edu	37	19	11833886	11833886	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:11833886C>G	uc002msm.2	-	4	589	c.463G>C	c.(463-465)GAA>CAA	p.E155Q	ZNF823_uc010xmd.1_5'UTR|ZNF823_uc010dyi.1_Missense_Mutation_p.E111Q	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGGGGCCTTTCATGTGTCTGG	0.468		NaN								HNSCC(68;0.2)			0	0	0	0.001855	0	13	68				
ABHD8	79575	broad.mit.edu	37	19	17405223	17405223	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:17405223C>A	uc002ngb.3	-	4	1263	c.1023G>T	c.(1021-1023)ATG>ATT	p.M341I		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	341							hydrolase activity				0						GGCCGCTCATCATGGCCCGGA	0.632		NaN											1	0	8.34094e-07	0.008871	8.57619e-07	18	158				
ZNF536	9745	broad.mit.edu	37	19	31039136	31039136	+	Silent	SNP	G	G	A	rs149881182	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:31039136G>A	uc002nsu.1	+	4	2748	c.2610G>A	c.(2608-2610)TCG>TCA	p.S870S	ZNF536_uc010edd.1_Silent_p.S870S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GAGATCACTCGGGGCAGGCCA	0.582		NaN											0	0	0	0.009535	0	31	40				
SARS2	54938	broad.mit.edu	37	19	39421292	39421292	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:39421292T>C	uc002oka.2	-	1	245	c.85A>G	c.(85-87)AGT>GGT	p.S29G	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Missense_Mutation_p.S29G|SARS2_uc002okb.2_Missense_Mutation_p.S29G|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Missense_Mutation_p.S29G|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	29					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTTGGACTATCGTTGGAG	0.607		NaN									OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	88				
AXL	558	broad.mit.edu	37	19	41737167	41737167	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:41737167G>C	uc010ehj.2	+	6	937	c.747G>C	c.(745-747)CTG>CTC	p.L249L	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.L249L|AXL_uc010ehk.2_Silent_p.L249L	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	249	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CTCCAGGCCTGAGCGGCATCT	0.622		NaN											0	0	0	0.001168	0	4	77				
ZNF221	7638	broad.mit.edu	37	19	44470975	44470975	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:44470975C>G	uc002oxx.2	+	6	1649	c.1321C>G	c.(1321-1323)CAG>GAG	p.Q441E	ZNF221_uc010ejb.1_Missense_Mutation_p.Q441E|ZNF221_uc010xws.1_Missense_Mutation_p.Q441E	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	441	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				ATCTTCCCATCAGAGATCCCA	0.433		NaN											0	0	0	0.008291	0	9	87				
MARK4	57787	broad.mit.edu	37	19	45805792	45805792	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45805792C>T	uc002pbb.1	+	17	2088	c.2083C>T	c.(2083-2085)CTG>TTG	p.L695L	MARK4_uc002pba.1_3'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	695					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGCCGTTCCTGCTGGCCTG	0.726		NaN											0	0	0	0.001984	0	4	6				
CD3EAP	10849	broad.mit.edu	37	19	45912513	45912513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45912513G>C	uc002pbq.1	+	3	1775	c.1287G>C	c.(1285-1287)GAG>GAC	p.E429D	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.E431D	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	429					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaaagagaGAGGTCACA	0.537		NaN											0	0	0	0.010504	0	22	10				
QPCTL	54814	broad.mit.edu	37	19	46206179	46206179	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:46206179C>G	uc010xxr.1	+	7	1242	c.1021C>G	c.(1021-1023)CTC>GTC	p.L341V	QPCTL_uc010ekn.2_Missense_Mutation_p.L247V	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	341					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CGTGCTCCATCTCATCTCCAC	0.597		NaN											0	0	0	0.01441	0	86	125				
CARD8	22900	broad.mit.edu	37	19	48734962	48734962	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:48734962C>T	uc002pie.3	-	4	495	c.182G>A	c.(181-183)GGA>GAA	p.G61E	CARD8_uc002pii.3_Missense_Mutation_p.G166E|CARD8_uc010xzi.1_Missense_Mutation_p.G61E|CARD8_uc010els.2_Missense_Mutation_p.G99E|CARD8_uc010xzj.1_Missense_Mutation_p.G166E|CARD8_uc010xzk.1_Missense_Mutation_p.G85E|CARD8_uc002pif.3_Missense_Mutation_p.G61E|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.G116E|CARD8_uc010xzl.1_Missense_Mutation_p.G116E|CARD8_uc010xzm.1_Missense_Mutation_p.G166E	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	61					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATCCACATTTCCTTCAGGCCC	0.363		NaN											0	0	0	0.01441	0	52	55				
ZNF578	147660	broad.mit.edu	37	19	52994576	52994576	+	Splice_Site	SNP	G	G	C	rs61191258		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:52994576G>C	uc002pzp.3	+	3	124	c.-120_splice	c.e3-1			NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATATTTTGTAGATATCTCTTC	0.169		NaN											0	0	0	0.009096	0	3	2				
FCAR	2204	broad.mit.edu	37	19	55401022	55401023	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55401022_55401023CC>TA	uc002qhr.1	+	5	854_855	c.657_658CC>TA	c.(655-660)ATCCAC>ATTAAC	p.H220N	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.H171N|FCAR_uc010esi.1_Missense_Mutation_p.H97N|FCAR_uc002qhu.1_Missense_Mutation_p.H124N|FCAR_uc002qhv.1_Missense_Mutation_p.H198N|FCAR_uc002qhw.1_Missense_Mutation_p.H208N|FCAR_uc002qhx.1_Missense_Mutation_p.H112N|FCAR_uc002qhy.1_Missense_Mutation_p.H186N|FCAR_uc002qhz.1_Nonsense_Mutation_p.P183*|FCAR_uc002qia.1_Missense_Mutation_p.H111N	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	220	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		CAGACTCCATCCACCAAGATTA	0.515		NaN											0	0	0	0.004672	0	52	606				
C19orf51	352909	broad.mit.edu	37	19	55677318	55677318	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55677318C>T	uc002qji.1	-	3	170	c.136G>A	c.(136-138)GAG>AAG	p.E46K	C19orf51_uc002qjj.1_Missense_Mutation_p.E93K|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.E114K			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	46											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATCTAGCTCGGGGTTGCTG	0.632		NaN									OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005524	0	34	36				
ZNF667	63934	broad.mit.edu	37	19	56953734	56953734	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:56953734A>T	uc002qnd.2	-	5	792	c.630T>A	c.(628-630)AAT>AAA	p.N210K	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.N210K|ZNF667_uc010etm.2_Missense_Mutation_p.N153K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	210	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGTTCTTTGATTGAAGCTTT	0.378		NaN											0	0	0	0.007413	0	17	152				
SLC27A5	10998	broad.mit.edu	37	19	59011880	59011880	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:59011880C>T	uc002qtc.2	-	5	1486	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	459	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACACTCACTCGGAGGAGGCA	0.607		NaN											0	0	0	0.000602	0	4	31				
CCDC88A	55704	broad.mit.edu	37	2	55563882	55563882	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:55563882G>C	uc002ryv.2	-	14	2433	c.1591C>G	c.(1591-1593)CTA>GTA	p.L531V	CCDC88A_uc010yoz.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypa.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypb.1_Missense_Mutation_p.L433V|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	531	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TCCTTCATTAGATCCTTGCTT	0.299		NaN											0	0	0	0.010729	0	11	90				
KCNIP3	30818	broad.mit.edu	37	2	96048223	96048223	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:96048223C>T	uc002sup.2	+	7	769	c.654C>T	c.(652-654)TTC>TTT	p.F218F	KCNIP3_uc002suq.2_Silent_p.F192F	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	218	EF-hand 4.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		TGGAGAGGTTCTTCGAGGTGA	0.657		NaN											0	0	0	0.012213	0	25	24				
PSD4	23550	broad.mit.edu	37	2	113940993	113940993	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:113940993C>T	uc002tjc.2	+	2	1143	c.960C>T	c.(958-960)TTC>TTT	p.F320F	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.F319F|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	320					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CCCCTCCATTCCCTGTGCCCA	0.607		NaN											0	0	0	0.000602	0	4	84				
PLA2R1	22925	broad.mit.edu	37	2	160833209	160833209	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160833209G>A	uc002ube.1	-	16	2631	c.2424C>T	c.(2422-2424)TTC>TTT	p.F808F	PLA2R1_uc010zcp.1_Silent_p.F808F|PLA2R1_uc002ubf.2_Silent_p.F808F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	808	Extracellular (Potential).				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						ACTGGTACCAGAACGGAATCT	0.353		NaN											0	0	0	0.006214	0	6	92				
PLA2R1	22925	broad.mit.edu	37	2	160840459	160840459	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160840459G>C	uc002ube.1	-	13	2370	c.2163C>G	c.(2161-2163)CTC>CTG	p.L721L	PLA2R1_uc010zcp.1_Silent_p.L721L|PLA2R1_uc002ubf.2_Silent_p.L721L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	721	Extracellular (Potential).|C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TTGAATGTAAGAGCTCATTCA	0.353		NaN											0	0	0	0.009096	0	4	63				
SCN9A	6335	broad.mit.edu	37	2	167159806	167159806	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:167159806T>G	uc010fpl.2	-	7	1036	c.695A>C	c.(694-696)AAG>ACG	p.K232T	SCN9A_uc002udr.1_Missense_Mutation_p.K103T|SCN9A_uc002uds.1_Missense_Mutation_p.K103T|SCN9A_uc002udt.1_Missense_Mutation_p.K103T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	232	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACAATTGTCTTCAGGCCTGA	0.393		NaN											0	0	0	0.004289	0	32	34				
NOSTRIN	115677	broad.mit.edu	37	2	169681198	169681198	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:169681198G>A	uc002ueg.2	+	3	172	c.168G>A	c.(166-168)CTG>CTA	p.L56L	NOSTRIN_uc002uef.2_Silent_p.L56L|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Intron|NOSTRIN_uc002ueh.2_5'UTR|NOSTRIN_uc002uej.2_5'UTR	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	56	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						CAAGCAAGCTGAGCAAAGCAT	0.323		NaN											0	0	0	0.006214	0	8	88				
DFNB59	494513	broad.mit.edu	37	2	179319144	179319144	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179319144C>T	uc002umi.3	+	3	653	c.297C>T	c.(295-297)GAC>GAT	p.D99D	DFNB59_uc002umj.3_Silent_p.D99D	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	99					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGTAAATGACGTTGGGATTA	0.338		NaN											0	0	0	0.00308	0	6	119				
TTN	7273	broad.mit.edu	37	2	179438342	179438342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179438342C>G	uc010zfg.1	-	275	65037	c.64813G>C	c.(64813-64815)GTA>CTA	p.V21605L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300L|TTN_uc010zfi.1_Missense_Mutation_p.V15233L|TTN_uc010zfj.1_Missense_Mutation_p.V15108L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22532							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAGGCTACATTTGTCCAT	0.413		NaN											0	0	0	0.001855	0	11	398				
TTN	7273	broad.mit.edu	37	2	179588019	179588019	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179588019G>T	uc010zfg.1	-	72	18207	c.17983C>A	c.(17983-17985)CAT>AAT	p.H5995N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H2656N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6922							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACAGAATGATCACTTAAT	0.388		NaN											1	0	9.16793e-09	0.00499	9.5738e-09	14	36				
TTN	7273	broad.mit.edu	37	2	179612864	179612864	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179612864G>C	uc002unb.2	-	46	14487	c.14263C>G	c.(14263-14265)CTA>GTA	p.L4755V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTCTAGAGGACAACTT	0.388		NaN											0	0	0	0.00333	0	17	28				
MFSD6	54842	broad.mit.edu	37	2	191362263	191362263	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:191362263C>G	uc002urz.2	+	7	2314	c.1990C>G	c.(1990-1992)CGC>GGC	p.R664G	MFSD6_uc010zge.1_Missense_Mutation_p.R126G	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	664					transmembrane transport	integral to membrane				ovary(2)	2						TGTCATGCCACGCATTGAGCC	0.502		NaN											0	0	0	0.003163	0	12	145				
SDPR	8436	broad.mit.edu	37	2	192701216	192701216	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:192701216C>G	uc002utb.2	-	2	1041	c.711G>C	c.(709-711)AAG>AAC	p.K237N		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	237	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TATCCACTTTCTTCAGGCTGG	0.463		NaN											0	0	0	0.006122	0	18	226				
HSPD1	3329	broad.mit.edu	37	2	198358053	198358053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:198358053C>G	uc002uui.2	-	7	1001	c.864G>C	c.(862-864)TTG>TTC	p.L288F	HSPD1_uc002uuj.2_Missense_Mutation_p.L286F|HSPD1_uc010zgx.1_Missense_Mutation_p.L279F|HSPD1_uc010fsm.2_Missense_Mutation_p.L99F|HSPD1_uc002uuk.2_Missense_Mutation_p.L288F	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	288					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ATTACCTATTCAAGACGAGTG	0.393		NaN											0	0	0	0.00499	0	13	184				
NOP58	51602	broad.mit.edu	37	2	203164980	203164980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:203164980C>G	uc002uzb.2	+	13	1442	c.1292C>G	c.(1291-1293)TCT>TGT	p.S431C		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	431					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						TACGATCCTTCTGGTGACTCC	0.333		NaN											0	0	0	0.010729	0	11	89				
PLEKHM3	389072	broad.mit.edu	37	2	208795681	208795681	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:208795681G>A	uc002vcl.2	-	5	2345	c.1855C>T	c.(1855-1857)CGG>TGG	p.R619W	PLEKHM3_uc002vcm.2_Missense_Mutation_p.R619W	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	619					intracellular signal transduction		metal ion binding			ovary(1)	1						ACCGCTGCCCGGCAGCTGAAC	0.622		NaN											0	0	0	0.001168	0	5	99				
ZNF142	7701	broad.mit.edu	37	2	219508869	219508869	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219508869C>T	uc002vin.2	-	8	2806	c.2370G>A	c.(2368-2370)GAG>GAA	p.E790E	ZNF142_uc002vil.2_Silent_p.E751E|ZNF142_uc010fvt.2_Silent_p.E627E|ZNF142_uc002vim.2_Silent_p.E627E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	790					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGTGCTGTCTCAGCAGGTG	0.532		NaN											0	0	0	0.008291	0	6	198				
CYP27A1	1593	broad.mit.edu	37	2	219679356	219679356	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219679356G>C	uc002viz.3	+	8	1786	c.1352G>C	c.(1351-1353)AGA>ACA	p.R451T		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	451					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGCTGGCTGAGAAACAGCCAG	0.607		NaN											0	0	0	0.001984	0	6	60				
ANKZF1	55139	broad.mit.edu	37	2	220100580	220100580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:220100580C>T	uc002vkg.2	+	12	2128	c.1954C>T	c.(1954-1956)CTC>TTC	p.L652F	ANKZF1_uc002vkh.2_Missense_Mutation_p.L442F|ANKZF1_uc002vki.2_Missense_Mutation_p.L652F	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	652	Potential.					intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTTGCCGCCCTCAGTGACCG	0.622		NaN											0	0	0	0.01441	0	46	93				
ZCCHC3	85364	broad.mit.edu	37	20	279194	279194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279194G>A	uc002wdf.2	+	2	988	c.964G>A	c.(964-966)GAG>AAG	p.E322K	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	323							nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGGGGGCCGAGAGGGGCTA	0.632		NaN											0	0	0	0.00874	0	43	64				
ZCCHC3	85364	broad.mit.edu	37	20	279302	279302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279302G>A	uc002wdf.2	+	2	1096	c.1072G>A	c.(1072-1074)GAG>AAG	p.E358K	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	359	CCHC-type 2.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGTGCGGGGAGGAGGGGCA	0.607		NaN											0	0	0	0.01441	0	54	77				
CD93	22918	broad.mit.edu	37	20	23065965	23065965	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:23065965G>T	uc002wsv.2	-	1	1013	c.865C>A	c.(865-867)CCA>ACA	p.P289T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	289	EGF-like 1.|Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGAATCCTGGTCGGCAGCCG	0.637		NaN											1	0	8.34094e-07	0.008871	8.57619e-07	18	258				
MYLK2	85366	broad.mit.edu	37	20	30412081	30412081	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:30412081T>A	uc002wwq.2	+	6	1000	c.898T>A	c.(898-900)TGT>AGT	p.C300S	MYLK2_uc002wws.2_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	300	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGGCAGTCTGTACCTGCAT	0.562		NaN											0	0	0	0.007291	0	23	41				
EMILIN3	90187	broad.mit.edu	37	20	39990291	39990291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:39990291G>C	uc002xjy.1	-	4	2142	c.1918C>G	c.(1918-1920)CAA>GAA	p.Q640E		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	640	Potential.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CTGGAGCCTTGGCTGCTGACC	0.632		NaN											0	0	0	0.009096	0	3	34				
LAMA5	3911	broad.mit.edu	37	20	60909254	60909254	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:60909254C>T	uc002ycq.2	-	22	2794	c.2727G>A	c.(2725-2727)ATG>ATA	p.M909I		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	909	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGTGCCATCTGCGCGT	0.672		NaN											0	0	0	0.007835	0	32	21				
DIDO1	11083	broad.mit.edu	37	20	61512799	61512799	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:61512799C>T	uc002ydr.1	-	16	4773	c.4509G>A	c.(4507-4509)CAG>CAA	p.Q1503Q	DIDO1_uc002yds.1_Silent_p.Q1503Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1503					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGGCGGCCCTCTGCTGCCTGA	0.587		NaN											0	0	0	0.01441	0	67	142				
KCNQ2	3785	broad.mit.edu	37	20	62038153	62038153	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:62038153G>C	uc002yey.1	-	17	2640	c.2463C>G	c.(2461-2463)TAC>TAG	p.Y821*	KCNQ2_uc002yez.1_Nonsense_Mutation_p.Y790*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.Y803*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.Y793*	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	821	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCACGGCCGCGTAGCAGCTGT	0.642		NaN											0	0	0	0.010504	0	15	10				
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:62120282T>G	uc002yfd.1	-	6	1354	c.1253A>C	c.(1252-1254)TAC>TCC	p.Y418S	EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667		NaN											0	0	0	0.010504	0	9	32				
TPTE	7179	broad.mit.edu	37	21	10951278	10951278	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:10951278A>G	uc002yip.1	-	10	802	c.434T>C	c.(433-435)GTA>GCA	p.V145A	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V127A|TPTE_uc002yir.1_Missense_Mutation_p.V107A|TPTE_uc010gkv.1_Missense_Mutation_p.V7A	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	145	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTACAAATACTCGAAGAAG	0.244		NaN											0	0	0	0.001855	0	11	124				
UBASH3A	53347	broad.mit.edu	37	21	43838515	43838515	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:43838515G>A	uc002zbe.2	+	7	879	c.843G>A	c.(841-843)CTG>CTA	p.L281L	UBASH3A_uc002zbf.2_Silent_p.L243L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L243L	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	281	SH3.					cytosol|nucleus				ovary(3)	3						TCTAGACCCTGAGAGCCCTAT	0.522		NaN											0	0	0	0.013537	0	11	199				
UPB1	51733	broad.mit.edu	37	22	24906761	24906761	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:24906761G>C	uc003aaf.2	+	4	530	c.409G>C	c.(409-411)GAA>CAA	p.E137Q	UPB1_uc003aae.2_Missense_Mutation_p.E69Q|UPB1_uc011ajt.1_Missense_Mutation_p.E137Q	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	137	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					TCCTTGGACAGAATTTGCTGA	0.502		NaN											0	0	0	0.014323	0	17	55				
SYN3	8224	broad.mit.edu	37	22	33402582	33402582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:33402582C>T	uc003amx.2	-	1	225	c.66G>A	c.(64-66)ATG>ATA	p.M22I	SYN3_uc003amy.2_Missense_Mutation_p.M22I|SYN3_uc003amz.2_Missense_Mutation_p.M22I	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	22	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						GCAGGTCCGTCATATAGCCAT	0.607		NaN									OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.01441	0	74	19				
MYH9	4627	broad.mit.edu	37	22	36695028	36695028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695028C>A	uc003apg.2	-	24	3268	c.3037G>T	c.(3037-3039)GAG>TAG	p.E1013*		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1013	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTAGATTTCTCCTCCTCTTCT	0.527		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				1	0	3.61183e-13	0.01441	3.84176e-13	44	14				
MYH9	4627	broad.mit.edu	37	22	36695058	36695058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695058C>T	uc003apg.2	-	24	3238	c.3007G>A	c.(3007-3009)GAG>AAG	p.E1003K		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1003	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GTGGTGAACTCAGCTATTCTG	0.498		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.01441	0	60	18				
MYH9	4627	broad.mit.edu	37	22	36697638	36697638	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36697638C>G	uc003apg.2	-	21	2804	c.2573G>C	c.(2572-2574)AGA>ACA	p.R858T	MYH9_uc003aph.1_Missense_Mutation_p.R722T	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	858	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTGCTTCTCTCTGACCTTCAC	0.617		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.005443	0	26	11				
MYH9	4627	broad.mit.edu	37	22	36700183	36700183	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36700183C>G	uc003apg.2	-	19	2479	c.2248G>C	c.(2248-2250)GAC>CAC	p.D750H	MYH9_uc003aph.1_Missense_Mutation_p.D614H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	750	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGATTGCTGTCGAGCTCCAGG	0.597		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.010771	0	34	7				
GTPBP1	9567	broad.mit.edu	37	22	39104929	39104929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:39104929G>A	uc003awg.2	+	2	426	c.272G>A	c.(271-273)GGA>GAA	p.G91E		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	91					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GAGGGATGCGGAGAGACCATA	0.393		NaN											0	0	0	0.01441	0	41	16				
EP300	2033	broad.mit.edu	37	22	41568628	41568628	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:41568628G>C	uc003azl.3	+	28	4973	c.4578G>C	c.(4576-4578)GAG>GAC	p.E1526D		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1526	Poly-Glu.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGGAAGAAGAGAGAAAACGAG	0.388		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.004482	0	7	26		Valid		
CYP2D6	1565	broad.mit.edu	37	22	42523483	42523483	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:42523483C>T	uc003bce.2	-	7	1229	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R74H|CYP2D6_uc003bcf.2_Missense_Mutation_p.R329H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	380							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						TTCGATGTCACGGGATGTCAT	0.612		NaN											0	0	0	0.009096	0	3	32				
IRAK2	3656	broad.mit.edu	37	3	10254974	10254974	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10254974C>G	uc003bve.1	+	5	688	c.612C>G	c.(610-612)GTC>GTG	p.V204V		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	204					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						CAGACGTGGTCCAGGCAACCG	0.527		NaN											0	0	0	0.003163	0	14	66				
TATDN2	9797	broad.mit.edu	37	3	10301923	10301923	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10301923A>G	uc003bvg.2	+	3	1098	c.517A>G	c.(517-519)AGG>GGG	p.R173G	TATDN2_uc003bvf.2_Missense_Mutation_p.R173G|TATDN2_uc011atr.1_Missense_Mutation_p.R173G|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	173						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						GGTCCAGAAAAGGAAGAGGGA	0.473		NaN											0	0	0	0.01441	0	47	41				
NUP210	23225	broad.mit.edu	37	3	13381432	13381432	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:13381432G>A	uc003bxv.1	-	25	3476	c.3393C>T	c.(3391-3393)CTC>CTT	p.L1131L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1131	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TCCCGATGGCGAGGCCCTGTA	0.493		NaN											0	0	0	0.01441	0	79	109				
RFTN1	23180	broad.mit.edu	37	3	16475483	16475483	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:16475483G>A	uc003cay.2	-	3	489	c.207C>T	c.(205-207)CTC>CTT	p.L69L	RFTN1_uc010hes.2_Silent_p.L33L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	69						plasma membrane				ovary(3)|central_nervous_system(1)	4						ACAGCTCCAGGAGCTGGGCGG	0.652		NaN											0	0	0	0.00333	0	23	30				
TRANK1	9881	broad.mit.edu	37	3	36874032	36874032	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:36874032C>G	uc003cgj.2	-	12	5562	c.5260G>C	c.(5260-5262)GAA>CAA	p.E1754Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2304	Potential.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGCAGCTTTTCAAACTCCTCC	0.522		NaN											0	0	0	0.003755	0	35	33				
SCN11A	11280	broad.mit.edu	37	3	38988357	38988357	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:38988357G>A	uc011ays.1	-	2	508	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	103					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTGGCACTGAAGCGGTAGA	0.363		NaN											0	0	0	0.009535	0	26	56				
TGM4	7047	broad.mit.edu	37	3	44926861	44926861	+	Missense_Mutation	SNP	G	G	A	rs141141838		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:44926861G>A	uc003coc.3	+	2	137	c.64G>A	c.(64-66)GTT>ATT	p.V22I	TGM4_uc003coa.2_Missense_Mutation_p.V22I|TGM4_uc003cob.2_RNA	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	22					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGACAACGCCGTTTCTCACCA	0.517		NaN											0	0	0	0.004007	0	12	32				
ITIH4	3700	broad.mit.edu	37	3	52859944	52859944	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:52859944G>A	uc003dfz.2	-	6	753	c.717C>T	c.(715-717)ATC>ATT	p.I239I	ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Silent_p.I103I|ITIH4_uc011bem.1_Silent_p.I239I|ITIH4_uc011ben.1_Silent_p.I239I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	239					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATCATAGCGGATAATGAGGT	0.572		NaN											0	0	0	0.008291	0	8	81				
EPHA3	2042	broad.mit.edu	37	3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:89259649G>A	uc003dqy.2	+	3	1018	c.793G>A	c.(793-795)GAA>AAA	p.E265K	EPHA3_uc003dqx.1_Missense_Mutation_p.E265K|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	265	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTATGAAGAAAGAGGTTT	0.403		NaN								TSP Lung(6;0.00050)			0	0	0	0.01441	0	112	147				
RPL24	6152	broad.mit.edu	37	3	101404687	101404687	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:101404687C>G	uc003dvh.1	-	3	210	c.167G>C	c.(166-168)AGA>ACA	p.R56T	RPL24_uc003dvi.1_Missense_Mutation_p.R56T	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						GTGCTTCCTTCTGTAGAGGAC	0.458		NaN											0	0	0	0.01441	0	44	49				
CBLB	868	broad.mit.edu	37	3	105377987	105377987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:105377987C>T	uc003dwc.2	-	19	3098	c.2776G>A	c.(2776-2778)GAG>AAG	p.E926K	CBLB_uc003dwa.2_Missense_Mutation_p.E141K|CBLB_uc011bhi.1_Missense_Mutation_p.E904K	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	926	Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AATGCCGCCTCAGGCCCATGG	0.493		NaN	Mis S		AML								0	0	0	0.006214	0	9	115				
KALRN	8997	broad.mit.edu	37	3	124048774	124048774	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:124048774G>T	uc003ehg.2	+	8	1472	c.1345G>T	c.(1345-1347)GAC>TAC	p.D449Y	KALRN_uc010hrv.1_Missense_Mutation_p.D449Y|KALRN_uc003ehf.1_Missense_Mutation_p.D449Y|KALRN_uc011bjy.1_Missense_Mutation_p.D449Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	449					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGAGATGCAAGACCTAGAGCT	0.572		NaN											1	0	0.00074312	0.006122	0.000756323	15	117				
COPG	22820	broad.mit.edu	37	3	128973917	128973917	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:128973917C>T	uc003els.2	+	7	589	c.489C>T	c.(487-489)TCC>TCT	p.S163S	COPG_uc010htb.2_Silent_p.S69S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	163					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TCGTGTCTTCCTTGGTGTGTA	0.483		NaN											0	0	0	0.008871	0	17	33				
ACAD11	84129	broad.mit.edu	37	3	132347277	132347277	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:132347277C>G	uc003eov.3	-	8	1357	c.977G>C	c.(976-978)AGA>ACA	p.R326T	ACAD11_uc011blr.1_5'Flank|ACAD11_uc003eoy.2_Missense_Mutation_p.R326T	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	326						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						CAGAAGATATCTGCTATATAC	0.348		NaN											0	0	0	0.004482	0	7	96				
TOPBP1	11073	broad.mit.edu	37	3	133362970	133362970	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:133362970T>C	uc003eps.2	-	11	1874	c.1742A>G	c.(1741-1743)AAA>AGA	p.K581R		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	581	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						GGACATGATTTTCCCAGCATT	0.403		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.006999	0	38	48				
WDR49	151790	broad.mit.edu	37	3	167248966	167248966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:167248966C>T	uc003fev.1	-	9	1405	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	WDR49_uc003feu.1_Missense_Mutation_p.E192K|WDR49_uc011bpd.1_Missense_Mutation_p.E431K|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367	WD 6.									large_intestine(1)|ovary(1)|skin(1)	3						TTTTTGCCCTCAGTGTCAATC	0.408		NaN											0	0	0	0.001168	0	6	112				
TNFSF10	8743	broad.mit.edu	37	3	172229441	172229441	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:172229441C>G	uc003fid.2	-	3	374	c.279G>C	c.(277-279)TTG>TTC	p.L93F	TNFSF10_uc003fie.2_Intron	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	93	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGTTCTCAAAATCATCT	0.313		NaN											0	0	0	0.007291	0	22	14				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.004878	0	30	50		Valid		
CHRD	8646	broad.mit.edu	37	3	184104518	184104518	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:184104518C>T	uc003fov.2	+	16	2417	c.2171C>T	c.(2170-2172)CCG>CTG	p.P724L	CHRD_uc003fow.2_Missense_Mutation_p.P354L|CHRD_uc003fox.2_Missense_Mutation_p.P724L|CHRD_uc003foy.2_Missense_Mutation_p.P354L|CHRD_uc010hyc.2_Missense_Mutation_p.P314L|CHRD_uc011brr.1_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	724	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACTACGACCCGCTCTGCTCA	0.672		NaN											0	0	0	0.013537	0	12	16				
DGKG	1608	broad.mit.edu	37	3	185985533	185985533	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:185985533C>T	uc003fqa.2	-	13	1687	c.1150G>A	c.(1150-1152)GAC>AAC	p.D384N	DGKG_uc003fqb.2_Missense_Mutation_p.D345N|DGKG_uc003fqc.2_Missense_Mutation_p.D384N|DGKG_uc011brx.1_Missense_Mutation_p.D345N	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	384	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCCACCGTCACACAACGTT	0.522		NaN											0	0	0	0.01441	0	56	101				
CPN2	1370	broad.mit.edu	37	3	194062300	194062300	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:194062300C>T	uc003fts.2	-	2	1222	c.1132G>A	c.(1132-1134)GAG>AAG	p.E378K		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	378	LRR 12.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGATGCCCTCCGGAAGTGTG	0.602		NaN											0	0	0	0.01441	0	52	76				
SORCS2	57537	broad.mit.edu	37	4	7398029	7398029	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:7398029G>C	uc003gkb.3	+	2	495	c.495G>C	c.(493-495)CTG>CTC	p.L165L	SORCS2_uc011bwi.1_5'UTR	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	165	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						TCTTGATCCTGACGAAGTACT	0.517		NaN											0	0	0	0.005443	0	18	35				
TEC	7006	broad.mit.edu	37	4	48151605	48151605	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:48151605C>G	uc003gxz.2	-	11	1066	c.975G>C	c.(973-975)GAG>GAC	p.E325D		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	325	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						ATTCAATAATCTCAGGAATGG	0.343		NaN											0	0	0	0.000602	0	3	88				
KDR	3791	broad.mit.edu	37	4	55948135	55948135	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:55948135G>A	uc003has.2	-	29	4138	c.3836C>T	c.(3835-3837)TCT>TTT	p.S1279F	KDR_uc003hat.1_Missense_Mutation_p.S1279F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1279	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGATGGAGATAATTTGGT	0.388		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.001855	0	9	102				
NAAA	27163	broad.mit.edu	37	4	76862017	76862017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:76862017G>A	uc003hjb.2	-	1	150	c.86C>T	c.(85-87)TCG>TTG	p.S29L	NAAA_uc003hja.2_Missense_Mutation_p.S29L|NAAA_uc003hjc.3_Missense_Mutation_p.S29L|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_5'Flank|NAAA_uc010iiz.1_Missense_Mutation_p.S29L	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	29					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						TGCTGGGGGCGAGGCGGCTGA	0.756		NaN											0	0	0	0.008291	0	10	6				
HERC6	55008	broad.mit.edu	37	4	89361189	89361189	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:89361189G>C	uc011cdi.1	+	21	2902	c.2719G>C	c.(2719-2721)GAC>CAC	p.D907H	HERC6_uc011cdj.1_Missense_Mutation_p.D871H|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	907	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACTGATTATGACTGGAAACA	0.378		NaN											0	0	0	0.007291	0	22	31				
FAM190A	401145	broad.mit.edu	37	4	91230198	91230198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:91230198C>G	uc003hsv.3	+	2	1103	c.763C>G	c.(763-765)CAG>GAG	p.Q255E	FAM190A_uc003hsu.3_Missense_Mutation_p.Q255E|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q255E	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	255										large_intestine(1)|ovary(1)	2						TACCACAGCTCAGACACCTTC	0.433		NaN											0	0	0	0.01441	0	49	61				
BDH2	56898	broad.mit.edu	37	4	104003301	104003301	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:104003301C>A	uc003hwz.2	-	9	726	c.621G>T	c.(619-621)AAG>AAT	p.K207N	BDH2_uc003hxa.2_RNA	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	207					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ATCTTCCCGTCTTTTGTCTCT	0.458		NaN											1	0	2.17888e-05	0.006214	2.2289e-05	8	85				
TET2	54790	broad.mit.edu	37	4	106157401	106157401	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106157401G>C	uc003hxk.2	+	3	2688	c.2302G>C	c.(2302-2304)GAT>CAT	p.D768H	TET2_uc011cez.1_Missense_Mutation_p.D789H|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.D768H|TET2_uc003hxi.1_Missense_Mutation_p.D768H	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	768	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAGCAACAATGATCAGCAAAG	0.383		NaN	Mis N|F		MDS								0	0	0	0.01441	0	42	54				
TET2	54790	broad.mit.edu	37	4	106158369	106158369	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158369G>C	uc003hxk.2	+	3	3656	c.3270G>C	c.(3268-3270)AAG>AAC	p.K1090N	TET2_uc011cez.1_Missense_Mutation_p.K1111N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K1090N|TET2_uc003hxi.1_Missense_Mutation_p.K1090N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	1090					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.K1090fs*16(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCAGAAAAGACACCAACCA	0.393		NaN	Mis N|F		MDS								0	0	0	0.003271	0	30	26				
TET2	54790	broad.mit.edu	37	4	106158415	106158415	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158415G>C	uc003hxk.2	+	3	3702	c.3316G>C	c.(3316-3318)GAG>CAG	p.E1106Q	TET2_uc011cez.1_Missense_Mutation_p.E1127Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E1106Q|TET2_uc003hxi.1_Missense_Mutation_p.E1106Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	1106					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAATTTTATAGAGTCACCTTC	0.373		NaN	Mis N|F		MDS								0	0	0	0.00623	0	35	45				
INPP4B	8821	broad.mit.edu	37	4	143045828	143045828	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:143045828C>G	uc003iix.3	-	20	2401	c.1806G>C	c.(1804-1806)CTG>CTC	p.L602L	INPP4B_uc003iiw.3_Silent_p.L602L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.L417L|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.L473L	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	602					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCACAAATGTCAGGGACTGCT	0.537		NaN											0	0	0	0.013726	0	32	48				
MAP9	79884	broad.mit.edu	37	4	156289749	156289749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:156289749G>C	uc003ios.2	-	5	961	c.697C>G	c.(697-699)CTT>GTT	p.L233V	MAP9_uc011cin.1_Missense_Mutation_p.L232V|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.L232V|MAP9_uc010iqb.1_Missense_Mutation_p.L160V	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	233					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCAGGATCAAGGTTTTCAGAG	0.378		NaN											0	0	0	0.003954	0	22	35				
ANXA10	11199	broad.mit.edu	37	4	169108570	169108570	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:169108570T>C	uc003irm.2	+	12	1105	c.960T>C	c.(958-960)GAT>GAC	p.D320D	ANXA10_uc003irn.2_Silent_p.D192D	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	320							calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GTGCTGGTGATGCTGAGGACT	0.338		NaN											0	0	0	0.00874	0	32	42				
NEIL3	55247	broad.mit.edu	37	4	178274823	178274823	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:178274823G>A	uc003iut.2	+	8	1518	c.1401G>A	c.(1399-1401)CCG>CCA	p.P467P	NEIL3_uc010irs.2_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	467					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATAAAAAACCGAAAACAGCCC	0.353		NaN						BER_DNA_glycosylases					0	0	0	0.009718	0	35	51				
ODZ3	55714	broad.mit.edu	37	4	183713719	183713719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:183713719G>A	uc003ivd.1	+	25	5931	c.5894G>A	c.(5893-5895)AGA>AAA	p.R1965K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1965	Extracellular (Potential).|YD 10.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATAGCACAAGAGTCAGTTTT	0.418		NaN											0	0	0	0.01441	0	57	47				
PLEKHG4B	153478	broad.mit.edu	37	5	169623	169623	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:169623C>T	uc003jak.2	+	12	2627	c.2577C>T	c.(2575-2577)CAC>CAT	p.H859H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	859	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCACGACTTCCACC	0.567		NaN											0	0	0	0.01441	0	62	163				
CDH9	1007	broad.mit.edu	37	5	26988259	26988259	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:26988259A>G	uc003jgs.1	-	2	351	c.182T>C	c.(181-183)TTC>TCC	p.F61S	CDH9_uc010iug.2_Missense_Mutation_p.F61S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	61	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTCCAATAAGAAGAACTGATT	0.383		NaN											0	0	0	0.007413	0	14	34				
RNASEN	29102	broad.mit.edu	37	5	31526792	31526792	+	Missense_Mutation	SNP	G	G	A	rs149389256	by1000genomes	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:31526792G>A	uc003jhg.2	-	4	607	c.248C>T	c.(247-249)CCA>CTA	p.P83L	RNASEN_uc003jhh.2_Missense_Mutation_p.P83L|RNASEN_uc003jhi.2_Missense_Mutation_p.P83L|RNASEN_uc010iui.1_Missense_Mutation_p.P74L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	83	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AGGCATGGGTGGGGGGAAGGG	0.577		NaN											0	0	0	0.004672	0	3	50				
PAIP1	10605	broad.mit.edu	37	5	43527531	43527531	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:43527531C>G	uc003job.2	-	11	1634	c.1387G>C	c.(1387-1389)GAA>CAA	p.E463Q	PAIP1_uc003joa.2_Missense_Mutation_p.E384Q|PAIP1_uc010ivp.2_Nonstop_Mutation_p.*352Y|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E351Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	463	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					TAAGCTTCTTCTATCTCTGGG	0.333		NaN											0	0	0	0.006214	0	7	98		Valid		
ISL1	3670	broad.mit.edu	37	5	50685565	50685565	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:50685565G>C	uc003jor.2	+	4	1112	c.564G>C	c.(562-564)CTG>CTC	p.L188L		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	188	Homeobox.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGACTGTGCTGAACGAGAAGC	0.667		NaN											0	0	0	0.004482	0	9	43				
BDP1	55814	broad.mit.edu	37	5	70818248	70818248	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70818248G>C	uc003kbp.1	+	23	5387	c.5124G>C	c.(5122-5124)CAG>CAC	p.Q1708H	BDP1_uc003kbo.2_Missense_Mutation_p.Q1708H|BDP1_uc003kbq.1_Intron	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1708					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAACAGATCAGAGCAAGGAAG	0.388		NaN											0	0	0	0.00499	0	15	98				
BDP1	55814	broad.mit.edu	37	5	70820129	70820129	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70820129G>C	uc003kbp.1	+	25	6014	c.5751G>C	c.(5749-5751)CAG>CAC	p.Q1917H	BDP1_uc003kbo.2_Missense_Mutation_p.Q1917H|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1917					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTCTGCTCAGATTGAGGAAA	0.383		NaN											0	0	0	0.008291	0	8	51				
MAN2A1	4124	broad.mit.edu	37	5	109026163	109026163	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:109026163C>G	uc003kou.1	+	1	1008	c.45C>G	c.(43-45)TTC>TTG	p.F15L	MAN2A1_uc003kot.1_RNA	NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	15	Helical; Signal-anchor for type II membrane protein; (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTGCGATCTTCTGTGTGGTGA	0.582		NaN											0	0	0	0.006122	0	15	5				
CAMK4	814	broad.mit.edu	37	5	110710590	110710590	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:110710590C>T	uc011cvj.1	+	4	382	c.283C>T	c.(283-285)CGC>TGC	p.R95C	CAMK4_uc003kpf.2_Missense_Mutation_p.R95C|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	95	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTCTTCTTCGCCTCTCACA	0.393		NaN											0	0	0	0.006214	0	9	33				
ACSL6	23305	broad.mit.edu	37	5	131307298	131307298	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:131307298G>A	uc010jdo.1	-	14	1387	c.1304C>T	c.(1303-1305)GCA>GTA	p.A435V	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.A460V|ACSL6_uc003kvy.1_Missense_Mutation_p.A460V|ACSL6_uc003kwb.2_Missense_Mutation_p.A425V|ACSL6_uc003kvz.1_Missense_Mutation_p.A360V|ACSL6_uc003kwa.1_Missense_Mutation_p.A446V|ACSL6_uc003kvw.1_Missense_Mutation_p.A81V|ACSL6_uc010jdn.1_Missense_Mutation_p.A450V	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	435	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTGGGGCTGCTCCAGTAAC	0.522		NaN											0	0	0	0.00278	0	19	3				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139917031	139917031	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:139917031G>A	uc003lfs.1	+	31	7209	c.7085G>A	c.(7084-7086)CGA>CAA	p.R2362Q	ANKHD1_uc003lfr.2_Missense_Mutation_p.R2362Q|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R1118Q|ANKHD1_uc003lfw.2_Missense_Mutation_p.R1017Q|ANKHD1_uc010jfl.2_Missense_Mutation_p.R738Q|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R516Q	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2362						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAAGATCGAAAGATACCT	0.547		NaN											0	0	0	0.01441	0	44	27				
PCDHB7	56129	broad.mit.edu	37	5	140553317	140553317	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140553317C>T	uc003lit.2	+	1	1075	c.901C>T	c.(901-903)CTT>TTT	p.L301F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	301	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L301P(1)		ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGCAGTCTTCATCTTAA	0.408		NaN											0	0	0	0.01441	0	73	12				
PCDHGB3	56102	broad.mit.edu	37	5	140750463	140750463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140750463C>T	uc003ljw.1	+	1	502	c.502C>T	c.(502-504)CAG>TAG	p.Q168*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.Q168*	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	168	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTCGCTGCAGCAGTACTA	0.512		NaN											0	0	0	0.001855	0	9	214				
FAT2	2196	broad.mit.edu	37	5	150925437	150925437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:150925437C>A	uc003lue.3	-	9	5264	c.5251G>T	c.(5251-5253)GAA>TAA	p.E1751*	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1751	Cadherin 15.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCATTTTCATCAATTATG	0.408		NaN											1	0	5.35267e-07	0.007413	5.53201e-07	18	147				
PANK3	79646	broad.mit.edu	37	5	167991021	167991021	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:167991021C>T	uc003lzz.1	-	4	985	c.685G>A	c.(685-687)GAA>AAA	p.E229K		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	pantothenate kinase 3	229					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCAAAACTTTCACAGCCAGTC	0.383		NaN											0	0	0	0.013726	0	25	173				
ZNF354A	6940	broad.mit.edu	37	5	178152427	178152427	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178152427C>G	uc003mjj.2	-	4	404	c.206G>C	c.(205-207)GGA>GCA	p.G69A		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	69	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGGATCTTCTCCTTGCTGCAA	0.493		NaN											0	0	0	0.008361	0	21	133				
RUFY1	80230	broad.mit.edu	37	5	178977723	178977723	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178977723G>A	uc003mka.1	+	1	153	c.153G>A	c.(151-153)CGG>CGA	p.R51R		NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	51					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACCTGCGGAGCGCAACGA	0.652		NaN								HNSCC(44;0.11)			0	0	0	0.008291	0	7	1				
DTNBP1	84062	broad.mit.edu	37	6	15523430	15523430	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:15523430G>C	uc003nbm.2	-	10	1003	c.832C>G	c.(832-834)CAG>GAG	p.Q278E	DTNBP1_uc003nbl.2_Missense_Mutation_p.Q197E|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	278	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ATCTCATTCTGACAGGTACTG	0.488		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.001168	0	4	185				
HIST1H3H	8357	broad.mit.edu	37	6	27778040	27778040	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:27778040C>G	uc003njm.2	+	1	199	c.189C>G	c.(187-189)ATC>ATG	p.I63M	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	63					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AGCTGCTGATCAGAAAGCTGC	0.617		NaN											0	0	0	0.001168	0	4	71				
BAT2	7916	broad.mit.edu	37	6	31602332	31602332	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31602332G>C	uc003nvb.3	+	20	5182	c.4933G>C	c.(4933-4935)GAA>CAA	p.E1645Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E1645Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1645	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GGCTGGCACAGAAGTGAGTGA	0.582		NaN											0	0	0	0.00278	0	20	3				
EHMT2	10919	broad.mit.edu	37	6	31855876	31855876	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31855876G>C	uc003nxz.1	-	13	1697	c.1687C>G	c.(1687-1689)CCT>GCT	p.P563A	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P354A|EHMT2_uc011don.1_Missense_Mutation_p.P586A|EHMT2_uc003nya.1_Missense_Mutation_p.P529A	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	563					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGGGGTGCAGGAGCTGCAGTG	0.652		NaN											0	0	0	0.004672	0	3	22				
PBX2	5089	broad.mit.edu	37	6	32156277	32156277	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:32156277G>A	uc003oav.1	-	3	571	c.300C>T	c.(298-300)CTC>CTT	p.L100L	PBX2_uc003oaw.2_Silent_p.L100L	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	100							transcription factor binding			ovary(1)	1						TCCGAATGCTGAGGCCTAGCA	0.617		NaN											0	0	0	0.009535	0	25	5				
REV3L	5980	broad.mit.edu	37	6	111697267	111697267	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697267G>T	uc003puy.3	-	13	2614	c.2291C>A	c.(2290-2292)GCT>GAT	p.A764D	REV3L_uc003pux.3_Missense_Mutation_p.A686D|REV3L_uc003puz.3_Missense_Mutation_p.A686D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	764					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTTTCATCAGCAGTGCTATT	0.368		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					1	0	1.14069e-49	0.01441	1.23961e-49	96	17				
REV3L	5980	broad.mit.edu	37	6	111697396	111697396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697396G>C	uc003puy.3	-	13	2485	c.2162C>G	c.(2161-2163)TCT>TGT	p.S721C	REV3L_uc003pux.3_Missense_Mutation_p.S643C|REV3L_uc003puz.3_Missense_Mutation_p.S643C	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	721					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTCCTTCAGAGGATACTTT	0.353		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	50	7				
REV3L	5980	broad.mit.edu	37	6	111697611	111697611	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697611G>A	uc003puy.3	-	13	2270	c.1947C>T	c.(1945-1947)ATC>ATT	p.I649I	REV3L_uc003pux.3_Silent_p.I571I|REV3L_uc003puz.3_Silent_p.I571I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	649					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATACTGGGAGGATCTCTTTCT	0.313		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.00333	0	23	2				
LAMA2	3908	broad.mit.edu	37	6	129777521	129777521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:129777521G>A	uc003qbn.2	+	47	6854	c.6749G>A	c.(6748-6750)GGA>GAA	p.G2250E	LAMA2_uc003qbo.2_Missense_Mutation_p.G2250E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2250	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCCTGGATGGACCCAAAGCC	0.478		NaN											0	0	0	0.01441	0	104	26				
CARD11	84433	broad.mit.edu	37	7	2978453	2978453	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:2978453T>A	uc003smv.2	-	7	1281	c.877A>T	c.(877-879)AGC>TGC	p.S293C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	293	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGGCAGGCTGCGCTTCCCG	0.632		NaN	Mis		DLBCL								0	0	0	0.000602	0	4	84				
ACTB	60	broad.mit.edu	37	7	5568878	5568878	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:5568878C>G	uc003sos.3	-	2	313	c.277G>C	c.(277-279)GAG>CAG	p.E93Q	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.E93Q|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	93					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACACGCAGCTCATTGTAGAAG	0.617		NaN											0	0	0	0.001168	0	5	94				
DNAH11	8701	broad.mit.edu	37	7	21934388	21934388	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:21934388C>T	uc003svc.2	+	79	12950	c.12919C>T	c.(12919-12921)CGT>TGT	p.R4307C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4307					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TCGGGAAATACGTATATCACT	0.368		NaN							Kartagener_syndrome				0	0	0	0.008291	0	11	10				
C7orf30	115416	broad.mit.edu	37	7	23340550	23340550	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:23340550G>C	uc003swd.1	+	2	381	c.349G>C	c.(349-351)GAA>CAA	p.E117Q		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	117						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			GGTTCCTCCAGAAATGAGATA	0.408		NaN											0	0	0	0.01441	0	112	133				
PDE1C	5137	broad.mit.edu	37	7	31890295	31890295	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:31890295C>T	uc003tcm.1	-	8	1280	c.811G>A	c.(811-813)GAG>AAG	p.E271K	PDE1C_uc003tcn.1_Missense_Mutation_p.E271K|PDE1C_uc003tco.1_Missense_Mutation_p.E331K|PDE1C_uc003tcr.2_Missense_Mutation_p.E271K|PDE1C_uc003tcs.2_Missense_Mutation_p.E271K	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	271	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCGGTATGCTCGTAGTCATGG	0.443		NaN											0	0	0	0.003163	0	11	156				
EPDR1	54749	broad.mit.edu	37	7	37960519	37960519	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:37960519C>T	uc003tfp.2	+	1	357	c.338C>T	c.(337-339)TCG>TTG	p.S113L	EPDR1_uc003tfq.2_Missense_Mutation_p.S113L|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GGCTTGCCCTCGGGCCGGGGA	0.736		NaN											0	0	0	0.013537	0	12	11				
DDC	1644	broad.mit.edu	37	7	50531017	50531017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:50531017G>A	uc003tpf.3	-	14	1441	c.1355C>T	c.(1354-1356)TCT>TTT	p.S452F	DDC_uc010kza.2_Missense_Mutation_p.S367F|DDC_uc003tpg.3_Missense_Mutation_p.S452F	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	452					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACCGTGCGAGAACAGATGGC	0.537		NaN											0	0	0	0.003271	0	30	30				
COBL	23242	broad.mit.edu	37	7	51095966	51095966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:51095966C>T	uc003tpr.3	-	10	3012	c.2827G>A	c.(2827-2829)GAT>AAT	p.D943N	COBL_uc003tps.2_Missense_Mutation_p.D1000N|COBL_uc011kcl.1_Missense_Mutation_p.D943N|COBL_uc003tpp.3_Missense_Mutation_p.D729N|COBL_uc003tpq.3_Missense_Mutation_p.D884N|COBL_uc003tpo.3_Missense_Mutation_p.D485N	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	943										skin(3)|ovary(2)	5	Glioma(55;0.08)					ACTGCCAAATCTTCCCCGTGG	0.562		NaN											0	0	0	0.000602	0	4	93				
SEMA3D	223117	broad.mit.edu	37	7	84671602	84671602	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:84671602C>G	uc003uic.2	-	8	902	c.862_splice	c.e8-1	p.N288_splice	SEMA3D_uc010led.2_Splice_Site_p.N288_splice|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CTACATCATTCTGACATGAAA	0.373		NaN											0	0	0	0.01441	0	86	97				
ADAM22	53616	broad.mit.edu	37	7	87760697	87760697	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:87760697G>C	uc003ujn.2	+	11	1018	c.939G>C	c.(937-939)ATG>ATC	p.M313I	ADAM22_uc003ujj.1_Missense_Mutation_p.M313I|ADAM22_uc003ujk.1_Missense_Mutation_p.M313I|ADAM22_uc003ujl.1_Missense_Mutation_p.M313I|ADAM22_uc003ujm.2_Missense_Mutation_p.M313I|ADAM22_uc003ujo.2_Missense_Mutation_p.M313I|ADAM22_uc003ujp.1_Missense_Mutation_p.M365I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	313	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTGAGTTTATGAAATACAGGA	0.363		NaN											0	0	0	0.000602	0	3	88				
ANKIB1	54467	broad.mit.edu	37	7	91972349	91972349	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:91972349G>C	uc003ulw.2	+	6	1175	c.799G>C	c.(799-801)GAG>CAG	p.E267Q		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	267							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGGACAGGGAGAAATTACT	0.383		NaN											0	0	0	0.008291	0	10	155				
MET	4233	broad.mit.edu	37	7	116398529	116398529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398529C>G	uc003vij.2	+	9	2306	c.2119C>G	c.(2119-2121)CTT>GTT	p.L707V	MET_uc010lkh.2_Missense_Mutation_p.L707V|MET_uc011kng.1_Missense_Mutation_p.L707V|MET_uc011knh.1_Missense_Mutation_p.L707V|MET_uc011kni.1_Missense_Mutation_p.L707V|MET_uc011knj.1_Missense_Mutation_p.L277V	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	707	Extracellular (Potential).|IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAACAGTATTCTTGAATGTTA	0.328		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.009096	0	4	111				
MET	4233	broad.mit.edu	37	7	116398545	116398545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398545C>G	uc003vij.2	+	9	2322	c.2135C>G	c.(2134-2136)CCA>CGA	p.P712R	MET_uc010lkh.2_Missense_Mutation_p.P712R|MET_uc011kng.1_Missense_Mutation_p.P712R|MET_uc011knh.1_Missense_Mutation_p.P712R|MET_uc011kni.1_Missense_Mutation_p.P712R|MET_uc011knj.1_Missense_Mutation_p.P282R	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	712	Extracellular (Potential).|IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTTATACCCCAGCCCAAACC	0.338		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.001168	0	4	123				
C7orf58	79974	broad.mit.edu	37	7	120906763	120906763	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:120906763C>T	uc003vjq.3	+	20	2981	c.2534C>T	c.(2533-2535)TCA>TTA	p.S845L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	845						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AATTTCAGATCACGTCCCCTA	0.403		NaN											0	0	0	0.001984	0	5	87				
AKR1B10	57016	broad.mit.edu	37	7	134216707	134216707	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:134216707G>C	uc003vrr.2	+	3	602	c.282G>C	c.(280-282)GAG>GAC	p.E94D		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	94					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						AAGCCTTTGAGAAGACCCTCA	0.468		NaN											0	0	0	0.004482	0	8	136				
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:148484180G>A	uc010lpg.2	+	13	1973	c.1447G>A	c.(1447-1449)GAT>AAT	p.D483N	CUL1_uc003wey.2_Missense_Mutation_p.D483N|CUL1_uc003wez.2_Missense_Mutation_p.D373N|CUL1_uc003wfa.2_Missense_Mutation_p.D144N	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	483					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCAAGTGACGATGCCGAAGC	0.413		NaN											0	0	0	0.01441	0	47	41				
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:150649632C>T	uc003wic.2	-	6	1451	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	KCNH2_uc003wib.2_Missense_Mutation_p.E140K|KCNH2_uc011kux.1_Missense_Mutation_p.E384K|KCNH2_uc003wid.2_Missense_Mutation_p.E140K|KCNH2_uc003wie.2_Missense_Mutation_p.E480K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	480	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.E480E(1)		skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597		NaN											0	0	0	0.004482	0	7	121				
GALNTL5	168391	broad.mit.edu	37	7	151699831	151699831	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151699831G>A	uc003wkp.2	+	6	914	c.691G>A	c.(691-693)GAG>AAG	p.E231K	GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.E120K	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	231	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGCCACTGTGAGGTGAACAG	0.502		NaN											0	0	0	0.00623	0	36	39				
MLL3	58508	broad.mit.edu	37	7	151949650	151949650	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151949650G>T	uc003wla.2	-	10	1669	c.1450C>A	c.(1450-1452)CAT>AAT	p.H484N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	484	DHHC-type.|PHD-type 3.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATATTACAATGAAGCATGTCT	0.368		NaN	N		medulloblastoma								1	0	6.02846e-25	0.003271	6.44643e-25	28	33		Valid		
DUSP26	78986	broad.mit.edu	37	8	33454844	33454844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:33454844C>T	uc003xjp.2	-	2	523	c.190G>A	c.(190-192)GAG>AAG	p.E64K	DUSP26_uc003xjq.2_Missense_Mutation_p.E64K	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	64	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCCAGACCTCGTCGGCATGG	0.557		NaN											0	0	0	0.001855	0	12	2				
PRKDC	5591	broad.mit.edu	37	8	48761858	48761858	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:48761858C>A	uc003xqi.2	-	55	7194	c.7137G>T	c.(7135-7137)ATG>ATT	p.M2379I	PRKDC_uc003xqj.2_Missense_Mutation_p.M2379I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2379					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACACAGCATTCATGAACCTGG	0.542		NaN						NHEJ					1	0	1.15088e-07	0.004007	1.19251e-07	14	132				
NSMAF	8439	broad.mit.edu	37	8	59522183	59522183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:59522183G>A	uc003xtt.2	-	10	881	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	NSMAF_uc011lee.1_Nonsense_Mutation_p.Q254*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.Q223*	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	223	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGAGGGGCTGAAAATACAGG	0.532		NaN											0	0	0	0.004289	0	31	37				
KCNB2	9312	broad.mit.edu	37	8	73849046	73849046	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:73849046C>G	uc003xzb.2	+	3	2044	c.1456C>G	c.(1456-1458)CAC>GAC	p.H486D		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	486	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CGACGATAATCACCTGTCGCC	0.512		NaN											0	0	0	0.004007	0	16	163				
PI15	51050	broad.mit.edu	37	8	75761397	75761397	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:75761397G>T	uc003yal.2	+	6	865	c.686G>T	c.(685-687)TGT>TTT	p.C229F	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.C229F	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	229						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGGGTACCATGTTCATCTTGT	0.393		NaN											1	0	4.4782e-45	0.01441	4.8273e-45	78	100				
MMP16	4325	broad.mit.edu	37	8	89180039	89180039	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:89180039A>T	uc003yeb.3	-	4	850	c.568T>A	c.(568-570)TCT>ACT	p.S190T	MMP16_uc003yec.2_Missense_Mutation_p.S190T	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	190	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TGGAAACCAGATGCAAAAATA	0.438		NaN											0	0	0	0.006999	0	37	36				
UBR5	51366	broad.mit.edu	37	8	103358508	103358508	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358508C>T	uc003ykr.1	-	7	725	c.692G>A	c.(691-693)GGA>GAA	p.G231E	UBR5_uc003yks.1_Missense_Mutation_p.G231E	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	231					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCATCATCTCCATCTTCATC	0.433		NaN											0	0	0	0.01441	0	84	197				
UBR5	51366	broad.mit.edu	37	8	103358578	103358578	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358578C>T	uc003ykr.1	-	7	655	c.622G>A	c.(622-624)GAA>AAA	p.E208K	UBR5_uc003yks.1_Missense_Mutation_p.E208K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	208					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTCTGAAGTTCTCGAATAATG	0.353		NaN											0	0	0	0.01441	0	46	90				
UBR5	51366	broad.mit.edu	37	8	103373849	103373849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103373849C>T	uc003ykr.1	-	2	101	c.68G>A	c.(67-69)CGA>CAA	p.R23Q	UBR5_uc003yks.1_Missense_Mutation_p.R23Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	23					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAAACTTCTCGTAACCTTTA	0.269		NaN											0	0	0	0.005443	0	24	40				
DPYS	1807	broad.mit.edu	37	8	105436556	105436556	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105436556A>C	uc003yly.3	-	7	1283	c.1154T>G	c.(1153-1155)ATT>AGT	p.I385S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	385					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTAAAAATTTTGGCTGC	0.353		NaN											0	0	0	0.010818	0	30	42				
LRP12	29967	broad.mit.edu	37	8	105509596	105509596	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105509596C>T	uc003yma.2	-	5	1279	c.1184G>A	c.(1183-1185)TGT>TAT	p.C395Y	LRP12_uc003ymb.2_Missense_Mutation_p.C376Y|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	395	Extracellular (Potential).|LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCCATCACAACGCTGCTG	0.463		NaN											0	0	0	0.006214	0	8	118				
DOCK8	81704	broad.mit.edu	37	9	434934	434934	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:434934G>C	uc003zgf.2	+	39	5150	c.5038G>C	c.(5038-5040)GAG>CAG	p.E1680Q	DOCK8_uc010mgu.2_Missense_Mutation_p.E982Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1580Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1138Q	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1680	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCATGCTGGAGGACCACAG	0.488		NaN											0	0	0	0.007413	0	14	46				
DMRT1	1761	broad.mit.edu	37	9	841870	841870	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:841870C>G	uc003zgv.2	+	1	181	c.32C>G	c.(31-33)TCT>TGT	p.S11C	DMRT1_uc003zgu.1_Missense_Mutation_p.S11C	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	11					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGCAAGCCCTCTACACCGTCG	0.692		NaN											0	0	0	0.004482	0	7	15				
PDCD1LG2	80380	broad.mit.edu	37	9	5534978	5534978	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:5534978G>A	uc003zjg.3	+	3	562	c.289G>A	c.(289-291)GAA>AAA	p.E97K	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.E97K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.E97K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	97	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		AGTGAGGGACGAAGGACAGTA	0.507		NaN											0	0	0	0.00632	0	26	38				
PTPRD	5789	broad.mit.edu	37	9	8499822	8499822	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:8499822C>T	uc003zkk.2	-	24	2858	c.2147G>A	c.(2146-2148)CGC>CAC	p.R716H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCGACTTTGCGAGGAGGACC	0.448		NaN								TSP Lung(15;0.13)			0	0	0	0.004878	0	30	51				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414340G>A	uc003zoe.2	-	5	763	c.504C>T	c.(502-504)AGC>AGT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.144		NaN	T	MLL	ALL								0	0	0	0.004672	0	3	20				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.004672	0	3	18				
RUSC2	9853	broad.mit.edu	37	9	35555321	35555321	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555321G>A	uc003zww.2	+	3	2534	c.2279G>A	c.(2278-2280)AGA>AAA	p.R760K	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R760K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	760						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTGGCAGAGGTGCCAGG	0.667		NaN											0	0	0	0.01441	0	56	59				
RUSC2	9853	broad.mit.edu	37	9	35555344	35555344	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555344G>A	uc003zww.2	+	3	2557	c.2302G>A	c.(2302-2304)GAG>AAG	p.E768K	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E768K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	768						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGGGTCTGAGCCAGAGAC	0.657		NaN											0	0	0	0.01441	0	87	88				
RUSC2	9853	broad.mit.edu	37	9	35560379	35560379	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560379G>A	uc003zww.2	+	10	3997	c.3742G>A	c.(3742-3744)GAA>AAA	p.E1248K	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1248K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1248	Poly-Glu.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggagacagaagaggtggc	0.517		NaN											0	0	0	0.013537	0	8	18				
RUSC2	9853	broad.mit.edu	37	9	35560391	35560391	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560391G>A	uc003zww.2	+	10	4009	c.3754G>A	c.(3754-3756)GAG>AAG	p.E1252K	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1252K	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1252						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggtggcagaggcagCCGG	0.502		NaN											0	0	0	0.008871	0	15	23				
SLC28A3	64078	broad.mit.edu	37	9	86900922	86900922	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:86900922G>T	uc010mpz.2	-	13	1510	c.1385C>A	c.(1384-1386)TCT>TAT	p.S462Y	SLC28A3_uc011lsy.1_Missense_Mutation_p.S393Y|SLC28A3_uc004anu.1_Missense_Mutation_p.S462Y	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	462	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTCATAAAAGACAGCAGGGC	0.498		NaN											1	0	5.35356e-11	0.00278	5.63458e-11	18	31				
DAPK1	1612	broad.mit.edu	37	9	90296407	90296407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:90296407G>A	uc004apc.2	+	20	2228	c.2090G>A	c.(2089-2091)GGA>GAA	p.G697E	DAPK1_uc004apd.2_Missense_Mutation_p.G697E|DAPK1_uc011ltg.1_Missense_Mutation_p.G697E|DAPK1_uc011lth.1_Missense_Mutation_p.G434E|DAPK1_uc004apf.1_Missense_Mutation_p.G251E	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	697					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GGCCACTCGGGATCCGGGAAA	0.552		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	0.01441	0	77	75				
IPPK	64768	broad.mit.edu	37	9	95418779	95418779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:95418779C>T	uc004asl.1	-	3	461	c.184G>A	c.(184-186)GTC>ATC	p.V62I		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	62					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						TCCTTCATGACATTTTTCCCA	0.433		NaN											0	0	0	0.01441	0	55	79				
SMC2	10592	broad.mit.edu	37	9	106882409	106882409	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:106882409G>A	uc004bbv.2	+	16	2386	c.2098G>A	c.(2098-2100)GAG>AAG	p.E700K	SMC2_uc004bbu.1_Missense_Mutation_p.E700K|SMC2_uc004bbw.2_Missense_Mutation_p.E700K|SMC2_uc011lvl.1_Missense_Mutation_p.E700K|SMC2_uc004bbx.2_Missense_Mutation_p.E700K	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	700	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						GGCTCTAGAAGAGGAATTAGC	0.353		NaN											0	0	0	0.01441	0	80	95				
OR13C2	392376	broad.mit.edu	37	9	107367631	107367631	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:107367631G>A	uc011lvq.1	-	1	278	c.278C>T	c.(277-279)TCC>TTC	p.S93F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCCAGAAAGGGAAATGGTCTT	0.517		NaN											0	0	0	0.01441	0	51	59				
SVEP1	79987	broad.mit.edu	37	9	113341490	113341490	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:113341490C>G	uc010mtz.2	-	1	671	c.334G>C	c.(334-336)GAC>CAC	p.D112H	SVEP1_uc010mua.1_Missense_Mutation_p.D112H|SVEP1_uc004beu.2_Missense_Mutation_p.D112H|uc004bew.1_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	112	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ACGGGGAAGTCGGACAGCAGC	0.642		NaN											0	0	0	0.004672	0	2	1				
TLR4	7099	broad.mit.edu	37	9	120476771	120476771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:120476771C>G	uc004bjz.2	+	3	2656	c.2365C>G	c.(2365-2367)CTC>GTC	p.L789V	TLR4_uc004bka.2_Missense_Mutation_p.L749V|TLR4_uc004bkb.2_Missense_Mutation_p.L589V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	789	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTACCGCCTTCTCAGCAGGAA	0.552		NaN											0	0	0	0.01441	0	50	55				
PBX3	5090	broad.mit.edu	37	9	128677988	128677988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:128677988G>T	uc004bqb.2	+	3	414	c.298G>T	c.(298-300)GAG>TAG	p.E100*	PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Nonsense_Mutation_p.E25*|PBX3_uc011lzx.1_Nonsense_Mutation_p.E11*|PBX3_uc004bqe.2_5'UTR	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	100					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AGGAGCCCAGGAGGAGGACCC	0.413		NaN											1	0	0.000673444	0.008291	0.000687153	11	12				
ZBTB34	403341	broad.mit.edu	37	9	129642198	129642198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642198C>G	uc004bqm.3	+	2	605	c.508C>G	c.(508-510)CAG>GAG	p.Q170E		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATATTGCTCTCAGGGACGGCA	0.592		NaN											0	0	0	0.01441	0	40	46				
ZBTB34	403341	broad.mit.edu	37	9	129642324	129642324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642324G>C	uc004bqm.3	+	2	731	c.634G>C	c.(634-636)GAG>CAG	p.E212Q		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTGAATATGAGATTCAGAT	0.577		NaN											0	0	0	0.001984	0	6	45				
FAM129B	64855	broad.mit.edu	37	9	130280190	130280190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:130280190G>C	uc004brh.2	-	6	822	c.620C>G	c.(619-621)CCT>CGT	p.P207R	FAM129B_uc004bri.2_Missense_Mutation_p.P194R|FAM129B_uc004brj.3_Missense_Mutation_p.P207R	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	207							protein binding				0						TGTGAACGCAGGGCCCTCTAC	0.612		NaN											0	0	0	0.00278	0	21	17				
GOLGA2	2801	broad.mit.edu	37	9	131023520	131023520	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131023520C>T	uc011maw.1	-	16	1283	c.1270G>A	c.(1270-1272)GAG>AAG	p.E424K	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.E325K|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	424	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CATTCCTTCTCCTCTCTCAAT	0.607		NaN											0	0	0	0.007413	0	16	160				
SPTAN1	6709	broad.mit.edu	37	9	131346753	131346753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131346753G>C	uc004bvl.3	+	17	2499	c.2386G>C	c.(2386-2388)GAG>CAG	p.E796Q	SPTAN1_uc011mbg.1_Missense_Mutation_p.E796Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.E808Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E796Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E796Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	796	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGTTGAGGATGAGGAGACGTG	0.562		NaN											0	0	0	0.00245	0	13	26				
SPTAN1	6709	broad.mit.edu	37	9	131348070	131348070	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348070G>A	uc004bvl.3	+	19	2717	c.2604G>A	c.(2602-2604)CTG>CTA	p.L868L	SPTAN1_uc011mbg.1_Silent_p.L868L|SPTAN1_uc011mbh.1_Silent_p.L880L|SPTAN1_uc004bvm.3_Silent_p.L868L|SPTAN1_uc004bvn.3_Silent_p.L868L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	868	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TTCACGAGCTGAACCAAAAGT	0.527		NaN											0	0	0	0.009535	0	28	61				
SPTAN1	6709	broad.mit.edu	37	9	131348091	131348091	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348091G>A	uc004bvl.3	+	19	2738	c.2625G>A	c.(2623-2625)CTG>CTA	p.L875L	SPTAN1_uc011mbg.1_Silent_p.L875L|SPTAN1_uc011mbh.1_Silent_p.L887L|SPTAN1_uc004bvm.3_Silent_p.L875L|SPTAN1_uc004bvn.3_Silent_p.L875L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	875	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGGAGGCACTGAAAGCCAAAG	0.537		NaN											0	0	0	0.004289	0	31	51				
BRD3	8019	broad.mit.edu	37	9	136917464	136917464	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:136917464G>A	uc004cew.2	-	3	503	c.315C>T	c.(313-315)TTC>TTT	p.F105F	BRD3_uc004cex.2_Silent_p.F105F	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	105	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACATGGTGTTGAAGTCCTGCA	0.398		NaN	T	NUT|C15orf55	lethal midline carcinoma of young people								0	0	0	0.000602	0	5	52				
UAP1L1	91373	broad.mit.edu	37	9	139973451	139973451	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:139973451G>A	uc010ncb.2	+	4	726	c.694G>A	c.(694-696)GCG>ACG	p.A232T	UAP1L1_uc004cla.3_Missense_Mutation_p.A109T	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	232							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCTCTACTGCGCGCTGGAGGA	0.652		NaN											0	0	0	0.01441	0	37	36				
TUBB2C	10383	broad.mit.edu	37	9	140137804	140137804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:140137804C>G	uc004cmh.1	+	4	1236	c.1134C>G	c.(1132-1134)TTC>TTG	p.F378L	TUBB2C_uc004cmg.1_Missense_Mutation_p.F232L	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	378					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGGAGCTGTTCAAGCGCATCT	0.597		NaN											0	0	0	0.01441	0	82	171				
SHROOM2	357	broad.mit.edu	37	X	9863321	9863321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:9863321C>T	uc004csu.1	+	4	1463	c.1373C>T	c.(1372-1374)CCT>CTT	p.P458L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	458					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GACAGCCCTCCTCAGGTGAGG	0.677		NaN											0	0	0	0.001984	0	6	26				
MID1	4281	broad.mit.edu	37	X	10427830	10427830	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:10427830C>G	uc004cte.3	-	8	1494	c.1303G>C	c.(1303-1305)GAT>CAT	p.D435H	MID1_uc004ctd.3_Missense_Mutation_p.D146H|MID1_uc004ctg.3_Missense_Mutation_p.D435H|MID1_uc004cth.3_Missense_Mutation_p.D397H|MID1_uc004ctk.3_Missense_Mutation_p.D435H|MID1_uc004cti.3_Missense_Mutation_p.D435H|MID1_uc004ctj.3_Missense_Mutation_p.D435H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.D107H|MID1_uc004cta.3_Missense_Mutation_p.D191H|MID1_uc004ctb.3_Missense_Mutation_p.D95H|MID1_uc004ctc.3_Missense_Mutation_p.D202H	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	435	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						ATCCAGCTATCAGCCGAATTA	0.463		NaN											0	0	0	0.013537	0	9	144				
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:37027200A>C	uc004ddl.1	+	1	731	c.717A>C	c.(715-717)CCA>CCC	p.P239P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	239										ovary(3)	3						TGGAGCCTCCAGAGACTGGAG	0.637		NaN											0	0	0	0.004672	0	3	71				
HUWE1	10075	broad.mit.edu	37	X	53617425	53617425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:53617425C>G	uc004dsp.2	-	35	4532	c.4130G>C	c.(4129-4131)AGA>ACA	p.R1377T	HUWE1_uc004dsn.2_Missense_Mutation_p.R202T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1377	UIM.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCAATTGCTCTCATCATCTG	0.443		NaN											0	0	0	0.01441	0	103	9				
OTUD6A	139562	broad.mit.edu	37	X	69282408	69282408	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:69282408C>G	uc004dxu.1	+	1	68	c.34C>G	c.(34-36)CTG>GTG	p.L12V		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	12										lung(1)|skin(1)	2						GCAGCGCATACTGCGCCGCCA	0.532		NaN											0	0	0	0.004672	0	3	10				
BRWD3	254065	broad.mit.edu	37	X	79936980	79936980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:79936980C>G	uc004edt.2	-	40	4777	c.4514G>C	c.(4513-4515)GGG>GCG	p.G1505A	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1101A|BRWD3_uc004edp.2_Missense_Mutation_p.G1334A|BRWD3_uc004edq.2_Missense_Mutation_p.G1101A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1101A|BRWD3_uc004edr.2_Missense_Mutation_p.G1175A|BRWD3_uc004eds.2_Missense_Mutation_p.G1101A|BRWD3_uc004edu.2_Missense_Mutation_p.G1175A|BRWD3_uc004edv.2_Missense_Mutation_p.G1101A|BRWD3_uc004edw.2_Missense_Mutation_p.G1101A|BRWD3_uc004edx.2_Missense_Mutation_p.G1101A|BRWD3_uc004edy.2_Missense_Mutation_p.G1101A|BRWD3_uc004edz.2_Missense_Mutation_p.G1175A|BRWD3_uc004eea.2_Missense_Mutation_p.G1175A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1101A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1505										ovary(4)	4						TAGTGAAAGCCCTTCAGCAGC	0.373		NaN											0	0	0	0.000602	0	5	33				
PCDH19	57526	broad.mit.edu	37	X	99663097	99663097	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:99663097C>G	uc010nmz.2	-	1	2175	c.499G>C	c.(499-501)GAG>CAG	p.E167Q	PCDH19_uc004efw.3_Missense_Mutation_p.E167Q|PCDH19_uc004efx.3_Missense_Mutation_p.E167Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	167	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GGCGTGAGCTCGTAAGTCTGC	0.637		NaN											0	0	0	0.005524	0	39	5				
MORC4	79710	broad.mit.edu	37	X	106243186	106243186	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:106243186C>T	uc004emu.3	-	1	257	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	MORC4_uc004emv.3_Missense_Mutation_p.R5Q|MORC4_uc004emw.3_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	5							ATP binding|zinc ion binding			ovary(1)	1						gggggccccTCGGTACAGGAG	0.448		NaN											0	0	0	0.00308	0	6	0				
BCORL1	63035	broad.mit.edu	37	X	129149373	129149373	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149373C>G	uc004evb.1	+	4	2739	c.2625C>G	c.(2623-2625)CTC>CTG	p.L875L	BCORL1_uc010nrd.1_Silent_p.L777L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	875					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGCCATCTCTCAGCTCCAGCG	0.602		NaN											0	0	0	0.000602	0	5	30				
BCORL1	63035	broad.mit.edu	37	X	129149590	129149590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149590C>T	uc004evb.1	+	4	2956	c.2842C>T	c.(2842-2844)CAG>TAG	p.Q948*	BCORL1_uc010nrd.1_Nonsense_Mutation_p.Q850*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	948					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TCGAATGAATCAGGGGCCTGA	0.567		NaN											0	0	0	0.006214	0	8	49				
ENOX2	10495	broad.mit.edu	37	X	129790591	129790591	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129790591C>G	uc004evw.2	-	11	1598	c.1180G>C	c.(1180-1182)GAA>CAA	p.E394Q	ENOX2_uc004evx.2_Missense_Mutation_p.E365Q|ENOX2_uc004evy.2_Missense_Mutation_p.E365Q|ENOX2_uc004evv.2_Missense_Mutation_p.E221Q	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	394	Potential.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						GTCATTTCTTCTATTTCATCA	0.269		NaN											0	0	0	0.01441	0	46	4				
CNGA2	1260	broad.mit.edu	37	X	150911830	150911830	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:150911830C>A	uc004fey.1	+	7	1079	c.855C>A	c.(853-855)ATC>ATA	p.I285I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	285	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGTCATCATCCACTGGA	0.493		NaN											1	0	3.13773e-49	0.01441	3.40063e-49	111	22				
F8	2157	broad.mit.edu	37	X	154227805	154227805	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:154227805C>G	uc004fmt.2	-	2	385	c.214G>C	c.(214-216)GAA>CAA	p.E72Q	F8_uc011mzx.1_Missense_Mutation_p.E37Q	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	72	Plastocyanin-like 1.|F5/8 type A 1.		E -> K (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCGTGAATTCTACAAACAGA	0.388		NaN											0	0	0	0.007291	0	23	91				
TAS1R3	83756	broad.mit.edu	37	1	1268136	1268136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:1268136C>T	uc010nyk.1	+	3	1225	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	409	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CAACACTCTTCAGTGCAACGC	0.637		NaN											0	0	0	0.006122	0	15	51				
C1orf86	199990	broad.mit.edu	37	1	2125221	2125221	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2125221C>T	uc001aiy.2	-	3	353	c.327G>A	c.(325-327)GGG>GGA	p.G109G	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.G105D	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	109											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ATTCCAGGTGCCCTCCTGCCC	0.701		NaN											0	0	0	0.003163	0	16	28				
MMEL1	79258	broad.mit.edu	37	1	2526322	2526322	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2526322G>A	uc001ajy.2	-	17	1809	c.1595C>T	c.(1594-1596)TCA>TTA	p.S532L	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	532	Potential.|Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGGTCCTCTGAGAAGTTCAG	0.607		NaN											0	0	0	0.00361	0	47	41				
PER3	8863	broad.mit.edu	37	1	7902801	7902801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:7902801G>C	uc001aoo.2	+	21	3767	c.3592G>C	c.(3592-3594)GAA>CAA	p.E1198Q	PER3_uc001aop.2_Missense_Mutation_p.E1207Q|PER3_uc010nzw.1_Missense_Mutation_p.E887Q	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	1198	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTGGTAGAAGACAGCTG	0.453		NaN											0	0	0	0.00278	0	20	55				
DFFA	1676	broad.mit.edu	37	1	10529339	10529339	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:10529339C>G	uc001arj.2	-	2	291	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	DFFA_uc001ark.2_Missense_Mutation_p.E65Q	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	65	CIDE-N.				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTGCCATCCTCTGCCAGGACC	0.428		NaN											0	0	0	0.007291	0	26	61				
EXOSC10	5394	broad.mit.edu	37	1	11132177	11132177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:11132177C>A	uc001asa.2	-	20	2259	c.2209G>T	c.(2209-2211)GAA>TAA	p.E737*	EXOSC10_uc001asb.2_Nonsense_Mutation_p.E712*	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	737					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTGACAGCTTCTTTAGAGTCT	0.453		NaN											1	0	5.78141e-17	0.013114	6.17496e-17	34	70				
PLOD1	5351	broad.mit.edu	37	1	12020784	12020784	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:12020784G>A	uc001atm.2	+	10	1148	c.1057G>A	c.(1057-1059)GAG>AAG	p.E353K	PLOD1_uc010obb.1_Missense_Mutation_p.E400K	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	353					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGGGCCCTGAGGTGCGGAT	0.627		NaN											0	0	0	0.00361	0	58	39				
ATP13A2	23400	broad.mit.edu	37	1	17323611	17323611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:17323611C>T	uc001baa.2	-	12	1289	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	ATP13A2_uc001bab.2_Missense_Mutation_p.E362K|ATP13A2_uc001bac.2_Missense_Mutation_p.E362K|ATP13A2_uc009vpa.1_Missense_Mutation_p.E80K|ATP13A2_uc001bad.1_Missense_Mutation_p.E80K	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	367	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CGGTGTGTCTCTGCACAGTAG	0.652		NaN											0	0	0	0.00361	0	130	68				
UBR4	23352	broad.mit.edu	37	1	19497282	19497282	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:19497282G>C	uc001bbi.2	-	26	3621	c.3617C>G	c.(3616-3618)TCT>TGT	p.S1206C	UBR4_uc001bbm.1_Missense_Mutation_p.S417C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1206					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCACCTGCTAGAGCCAATAGC	0.428		NaN											0	0	0	0.00361	0	71	37				
MYOM3	127294	broad.mit.edu	37	1	24387794	24387794	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:24387794C>T	uc001bin.3	-	34	4103	c.3940G>A	c.(3940-3942)GAG>AAG	p.E1314K	MYOM3_uc001bil.3_Missense_Mutation_p.E207K|MYOM3_uc001bim.3_Missense_Mutation_p.E971K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1314										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGCATCCTCAAAAGCTATA	0.502		NaN											0	0	0	0.001368	0	10	27				
RHD	6007	broad.mit.edu	37	1	25599110	25599110	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:25599110C>T	uc001bjz.2	+	1	130	c.72C>T	c.(70-72)CTC>CTT	p.L24L	RHD_uc010oep.1_Silent_p.L24L|RHD_uc001bkc.2_Silent_p.L24L|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.L24L|RHD_uc001bkb.2_Silent_p.L24L|RHD_uc009vrn.2_Silent_p.L24L|RHD_uc009vro.2_Silent_p.L24L|RHD_uc009vrp.2_Silent_p.L24L	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	24	Helical; (Potential).					integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGCAGCTCTCATTCTCCTCT	0.532		NaN											0	0	0	0.010729	0	9	45				
SF3A3	10946	broad.mit.edu	37	1	38450421	38450421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:38450421C>T	uc001cci.2	-	5	458	c.334G>A	c.(334-336)GAA>AAA	p.E112K	SF3A3_uc010oik.1_Missense_Mutation_p.E59K	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	112					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGGAGTTCCTCAAATTCC	0.353		NaN											0	0	0	0.013114	0	35	86				
MACF1	23499	broad.mit.edu	37	1	39782127	39782127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:39782127G>C	uc010ois.1	+	29	3734	c.3529G>C	c.(3529-3531)GAG>CAG	p.E1177Q	MACF1_uc001cda.1_Missense_Mutation_p.E1085Q|MACF1_uc001cdc.1_Missense_Mutation_p.E264Q|MACF1_uc009vvq.1_Missense_Mutation_p.E234Q|MACF1_uc001cdb.1_Missense_Mutation_p.E264Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1177					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAAGGTTATGAGATTAAGCT	0.433		NaN											0	0	0	0.00361	0	82	50				
EBNA1BP2	10969	broad.mit.edu	37	1	43637293	43637293	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:43637293G>A	uc001cin.2	-	3	377	c.180C>T	c.(178-180)TTC>TTT	p.F60F	EBNA1BP2_uc001cio.2_Silent_p.F115F|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'UTR|EBNA1BP2_uc010ojx.1_Silent_p.F115F|EBNA1BP2_uc010ojy.1_RNA	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	60					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATCCCGCTTGAATTCTGCCA	0.522		NaN											0	0	0	0.00361	0	146	109				
BEND5	79656	broad.mit.edu	37	1	49208411	49208411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:49208411C>T	uc001crx.3	-	4	822	c.778G>A	c.(778-780)GAA>AAA	p.E260K	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.E91K	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	260										skin(1)	1						TCGAGACATTCTGACTTTACT	0.443		NaN											0	0	0	0.000602	0	3	76				
EPS15	2060	broad.mit.edu	37	1	51913720	51913720	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:51913720T>A	uc001csq.1	-	9	741	c.649A>T	c.(649-651)ACG>TCG	p.T217S	EPS15_uc009vyz.1_Missense_Mutation_p.T217S	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	217					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						ATACTGACCGTTTTTCTCTTA	0.463		NaN	T	MLL	ALL								0	0	0	0.002299	0	19	59				
GADD45A	1647	broad.mit.edu	37	1	68152235	68152235	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:68152235G>A	uc001ddz.1	+	3	644	c.349G>A	c.(349-351)GAG>AAG	p.E117K	GADD45A_uc009wbb.1_Missense_Mutation_p.E83K|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron	NM_001924	NP_001915	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	117					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			ovary(1)	1						CGAGGGCGCCGAGCAGCCCCC	0.706		NaN											0	0	0	0.00632	0	19	9				
CTH	1491	broad.mit.edu	37	1	70897772	70897772	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:70897772G>T	uc001dfd.2	+	8	875	c.731G>T	c.(730-732)GGA>GTA	p.G244V	CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.G200V|CTH_uc010oqq.1_Missense_Mutation_p.G212V	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	244					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCAGCTCTTGGAGCAGTTCCA	0.438		NaN											1	0	1.02788e-11	0.00499	1.07691e-11	14	35				
C1orf173	127254	broad.mit.edu	37	1	75037069	75037069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:75037069G>C	uc001dgg.2	-	14	4544	c.4325C>G	c.(4324-4326)TCA>TGA	p.S1442*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1442	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCTAGCCCTGAGGTCTTCCG	0.612		NaN											0	0	0	0.00361	0	58	159				
MAGI3	260425	broad.mit.edu	37	1	114128143	114128143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:114128143G>A	uc001edk.2	+	4	869	c.688G>A	c.(688-690)GAA>AAA	p.E230K	MAGI3_uc001edh.3_Missense_Mutation_p.E230K|MAGI3_uc001edi.3_Missense_Mutation_p.E230K|MAGI3_uc010owm.1_Missense_Mutation_p.E230K	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	230	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAAGATGGAAAGAATGGA	0.418		NaN											0	0	0	0.006122	0	17	34				
DENND2C	163259	broad.mit.edu	37	1	115147614	115147614	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147614C>T	uc001efd.1	-	11	2298	c.1596G>A	c.(1594-1596)GAG>GAA	p.E532E	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.E475E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	532	UDENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTAAGTCTCTCTTCCATGT	0.343		NaN											0	0	0	0.001368	0	12	12				
DENND2C	163259	broad.mit.edu	37	1	115147649	115147649	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147649C>T	uc001efd.1	-	11	2263	c.1561G>A	c.(1561-1563)GAT>AAT	p.D521N	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D464N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	521	UDENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCATGATCATCCTGAAAA	0.363		NaN											0	0	0	0.001168	0	6	8				
SPAG17	200162	broad.mit.edu	37	1	118624183	118624183	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118624183T>C	uc001ehk.2	-	14	1913	c.1845A>G	c.(1843-1845)AAA>AAG	p.K615K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	615						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAGTTTCCCTTTTTCATCAA	0.448		NaN											0	0	0	0.009096	0	3	87				
SPAG17	200162	broad.mit.edu	37	1	118640379	118640379	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118640379C>T	uc001ehk.2	-	7	993	c.925G>A	c.(925-927)GAA>AAA	p.E309K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATTTGTTTCAGGTTTCTCA	0.373		NaN											0	0	0	0.001855	0	13	31				
NBPF9	400818	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144828683C>G	uc009wig.1	+	23	2804	c.2728C>G	c.(2728-2730)CAG>GAG	p.Q910E	NBPF9_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF9_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF9_uc010oxr.1_Missense_Mutation_p.Q937E|NBPF9_uc010oxt.1_Missense_Mutation_p.Q725E|NBPF9_uc001ekg.1_Missense_Mutation_p.Q237E|NBPF9_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Q570E|uc001elr.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	910	NBPF 7.					cytoplasm					0						ATTTGAGGAACAGCACATCAG	0.438		NaN											0	0	0	0.003954	0	7	235				
NBPF9	400818	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144828688C>T	uc009wig.1	+	23	2809	c.2733C>T	c.(2731-2733)CAC>CAT	p.H911H	NBPF9_uc010oxn.1_Silent_p.H809H|NBPF9_uc010oxo.1_Silent_p.H836H|NBPF9_uc010oxr.1_Silent_p.H938H|NBPF9_uc010oxt.1_Silent_p.H726H|NBPF9_uc001ekg.1_Silent_p.H238H|NBPF9_uc001ekk.1_Silent_p.H482H|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Silent_p.H238H|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Silent_p.H571H|uc001elr.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	911	NBPF 7.					cytoplasm					0						AGGAACAGCACATCAGCTTCG	0.433		NaN											0	0	0	0.005443	0	8	228				
PDE4DIP	9659	broad.mit.edu	37	1	144857625	144857625	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144857625G>A	uc001elw.3	-	39	6720	c.6429C>T	c.(6427-6429)ATC>ATT	p.I2143I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.I2037I|PDE4DIP_uc001elv.3_Silent_p.I1150I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2143					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCTCTGTTGATTATGGGCG	0.468		NaN	T	PDGFRB	MPD								0	0	0	0.013114	0	35	289				
PDE4DIP	9659	broad.mit.edu	37	1	144871718	144871718	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144871718C>A	uc001elw.3	-	32	5535	c.5244G>T	c.(5242-5244)ATG>ATT	p.M1748I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.M755I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1748	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGCAGCATCTGTAGCT	0.582		NaN	T	PDGFRB	MPD								1	0	0.00229938	0.002299	0.00233481	10	184				
PDE4DIP	9659	broad.mit.edu	37	1	144882662	144882662	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144882662G>C	uc001elw.3	-	24	3648	c.3357C>G	c.(3355-3357)CTC>CTG	p.L1119L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.L126L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1119	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGTTCTTTGAGGAGGTTGA	0.453		NaN	T	PDGFRB	MPD								0	0	0	0.005443	0	24	186				
GABPB2	126626	broad.mit.edu	37	1	151065682	151065682	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151065682G>T	uc001ewr.2	+	4	622	c.291G>T	c.(289-291)GTG>GTT	p.V97V	GABPB2_uc010pcp.1_Silent_p.V113V|GABPB2_uc001ews.2_Silent_p.V57V|GABPB2_uc001ewt.2_5'UTR	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	97	ANK 3.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTGCAGATGTGAATGCCAAGG	0.443		NaN											1	0	2.51308e-46	0.00361	2.75103e-46	90	168				
ZNF687	57592	broad.mit.edu	37	1	151258795	151258795	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151258795G>C	uc001exq.2	+	2	126	c.28G>C	c.(28-30)GAT>CAT	p.D10H	ZNF687_uc001exp.1_Missense_Mutation_p.D19H|ZNF687_uc009wmo.2_Missense_Mutation_p.D10H|ZNF687_uc009wmp.2_Missense_Mutation_p.D10H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTGATTTTGATGACCTCCT	0.517		NaN											0	0	0	0.00361	0	216	139				
HRNR	388697	broad.mit.edu	37	1	152191810	152191810	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152191810G>A	uc001ezt.1	-	3	2371	c.2295C>T	c.(2293-2295)CAC>CAT	p.H765H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	765	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGTCGGCCGTGGCCCGAAG	0.592		NaN											0	0	0	0.003271	0	32	167				
HRNR	388697	broad.mit.edu	37	1	152193146	152193146	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193146G>C	uc001ezt.1	-	3	1035	c.959C>G	c.(958-960)TCC>TGC	p.S320C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	320	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCTGGAGGAGTGCCC	0.607		NaN											0	0	0	0.007291	0	27	119				
HRNR	388697	broad.mit.edu	37	1	152193539	152193539	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193539G>T	uc001ezt.1	-	3	642	c.566C>A	c.(565-567)TCT>TAT	p.S189Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	189	2.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGCCTGAAGACTGATGGGA	0.537		NaN											1	0	2.32416e-17	0.002299	2.49044e-17	5	75				
CLK2	1196	broad.mit.edu	37	1	155234440	155234440	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155234440G>A	uc001fjy.2	-	9	1349	c.1059C>T	c.(1057-1059)ATC>ATT	p.I353I	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Silent_p.I352I|CLK2_uc001fjx.2_Silent_p.I125I|CLK2_uc009wqm.2_Silent_p.I353I	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	353	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTACCAAGGATGACTTCTG	0.552		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.00361	0	37	156				
YY1AP1	55249	broad.mit.edu	37	1	155630385	155630385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155630385G>T	uc001fln.2	-	11	1478	c.1454C>A	c.(1453-1455)TCA>TAA	p.S485*	YY1AP1_uc001flg.2_Nonsense_Mutation_p.S224*|YY1AP1_uc010pgg.1_Nonsense_Mutation_p.S324*|YY1AP1_uc010pgh.1_Nonsense_Mutation_p.S428*|YY1AP1_uc010pgi.1_Nonsense_Mutation_p.S577*|YY1AP1_uc001flh.2_Nonsense_Mutation_p.S557*|YY1AP1_uc009wqt.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flk.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fll.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqv.2_Nonsense_Mutation_p.S156*|YY1AP1_uc001flm.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fli.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqu.2_Nonsense_Mutation_p.S272*|YY1AP1_uc001flj.2_Nonsense_Mutation_p.S419*|YY1AP1_uc009wqw.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flo.2_Nonsense_Mutation_p.S373*|YY1AP1_uc001flp.2_Nonsense_Mutation_p.S439*|YY1AP1_uc010pgj.1_3'UTR	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	485					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGGGCTTCTGAATGAGTTGA	0.552		NaN											1	0	3.52435e-65	0.00361	3.89036e-65	114	69				
KIAA0907	22889	broad.mit.edu	37	1	155891202	155891202	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155891202C>T	uc001fmi.1	-	10	1254	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	KIAA0907_uc001fmj.1_Silent_p.P410P|KIAA0907_uc009wrk.1_Silent_p.P267P|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.D377N	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	410	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGTGTTATCGGGTATTGTG	0.493		NaN											0	0	0	0.005443	0	23	100				
KIAA0907	22889	broad.mit.edu	37	1	155903521	155903521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155903521G>A	uc001fmi.1	-	2	182	c.158C>T	c.(157-159)TCA>TTA	p.S53L	KIAA0907_uc001fmj.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrk.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S53L|KIAA0907_uc001fmm.2_Missense_Mutation_p.S53L|KIAA0907_uc001fmo.2_Missense_Mutation_p.S53L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	53											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAGGCTCCTGAAGGAGCAGC	0.592		NaN											0	0	0	0.006214	0	10	22				
SMG5	23381	broad.mit.edu	37	1	156230257	156230257	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156230257G>C	uc001foc.3	-	15	2417	c.2268C>G	c.(2266-2268)CTC>CTG	p.L756L	SMG5_uc009wrv.2_Silent_p.L241L	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	756					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					CTAAGGTGCTGAGCAGGGGCC	0.562		NaN											0	0	0	0.00361	0	49	161				
SMG5	23381	broad.mit.edu	37	1	156247764	156247764	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247764C>G	uc001foc.3	-	3	398	c.249G>C	c.(247-249)TGG>TGC	p.W83C		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	83					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ATACCTTTCTCCACAGCAGCT	0.493		NaN											0	0	0	0.009535	0	29	143				
SMG5	23381	broad.mit.edu	37	1	156247778	156247778	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247778C>T	uc001foc.3	-	3	384	c.235G>A	c.(235-237)GAG>AAG	p.E79K		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	79					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AGCAGCTCCTCAGCCTTTCTC	0.502		NaN											0	0	0	0.007291	0	28	118				
CCT3	7203	broad.mit.edu	37	1	156279057	156279057	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156279057G>A	uc001fol.1	-	14	1791	c.1571C>T	c.(1570-1572)TCA>TTA	p.S524L	CCT3_uc001fom.1_Missense_Mutation_p.S523L|CCT3_uc001fon.1_Missense_Mutation_p.S486L|CCT3_uc010phj.1_Missense_Mutation_p.S478L|CCT3_uc010phk.1_Missense_Mutation_p.S478L|CCT3_uc010phl.1_Missense_Mutation_p.S478L	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	524					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TTTGTGGCCTGAAACGATGTC	0.512		NaN											0	0	0	0.00623	0	37	183				
C1orf66	51093	broad.mit.edu	37	1	156698908	156698908	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156698908C>T	uc001fpu.2	+	1	646	c.12C>T	c.(10-12)ATC>ATT	p.I4I	ISG20L2_uc001fps.1_5'Flank|ISG20L2_uc001fpt.1_5'Flank|C1orf66_uc001fpv.2_Silent_p.I4I	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	4						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCGGGCATCTCCGCCCGAG	0.642		NaN											0	0	0	0.008291	0	10	36				
OR10X1	128367	broad.mit.edu	37	1	158549345	158549345	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158549345T>A	uc010pin.1	-	1	345	c.345A>T	c.(343-345)TTA>TTT	p.L115F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	115	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGCACATCTGTAAGCTACAAC	0.478		NaN											0	0	0	0.005443	0	23	129				
OR6N2	81442	broad.mit.edu	37	1	158747168	158747168	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158747168G>A	uc010pir.1	-	1	258	c.258C>T	c.(256-258)CTC>CTT	p.L86L		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TCTTCTCACTGAGAATATTAG	0.453		NaN											0	0	0	0.006214	0	9	232				
IFI16	3428	broad.mit.edu	37	1	158985757	158985757	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158985757G>C	uc001ftf.1	+	4	968	c.361G>C	c.(361-363)GAG>CAG	p.E121Q	IFI16_uc001ftg.2_Missense_Mutation_p.E121Q|IFI16_uc010pis.1_Missense_Mutation_p.E121Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	121	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TGAAGGAGCAGAGGCAACTCC	0.522		NaN											0	0	0	0.004878	0	33	84				
CADM3	57863	broad.mit.edu	37	1	159161793	159161793	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161793G>A	uc001ftl.2	+	2	298	c.156G>A	c.(154-156)GTG>GTA	p.V52V	CADM3_uc009wsx.1_Silent_p.V86V|CADM3_uc009wsy.1_Silent_p.V52V|CADM3_uc001ftk.2_Silent_p.V86V	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	52	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					AGTGCCAAGTGAAAGATCACG	0.512		NaN											0	0	0	0.00361	0	91	57				
CADM3	57863	broad.mit.edu	37	1	159161862	159161862	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161862G>A	uc001ftl.2	+	2	367	c.225G>A	c.(223-225)AAG>AAA	p.K75K	CADM3_uc009wsx.1_Silent_p.K109K|CADM3_uc009wsy.1_Silent_p.K75K|CADM3_uc001ftk.2_Silent_p.K109K	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	75	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TTGGGGAGAAGAGAGGTAGTA	0.527		NaN											0	0	0	0.00361	0	55	36				
COPA	1314	broad.mit.edu	37	1	160267134	160267134	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160267134C>G	uc009wti.2	-	21	2656	c.2262G>C	c.(2260-2262)CAG>CAC	p.Q754H	COPA_uc001fvv.3_Missense_Mutation_p.Q763H	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	754					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTACTCTGTCCACAGT	0.453		NaN											0	0	0	0.00361	0	39	338				
USP21	27005	broad.mit.edu	37	1	161130796	161130796	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161130796G>A	uc010pke.1	+	3	743	c.366G>A	c.(364-366)ATG>ATA	p.M122I	USP21_uc010pkc.1_Missense_Mutation_p.M122I|USP21_uc010pkd.1_Missense_Mutation_p.M122I|USP21_uc010pkf.1_Missense_Mutation_p.M122I	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	122					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCGTCCAATGGGGATTGCCT	0.632		NaN											0	0	0	0.00632	0	24	209				
ATF6	22926	broad.mit.edu	37	1	161789498	161789498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161789498G>C	uc001gbr.2	+	8	1052	c.985G>C	c.(985-987)GAA>CAA	p.E329Q	ATF6_uc001gbq.1_Missense_Mutation_p.E329Q	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	329	Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GAAGAAGAAAGAATATATGCT	0.413		NaN											0	0	0	0.001984	0	7	93				
DUSP27	92235	broad.mit.edu	37	1	167096654	167096654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:167096654C>A	uc001geb.1	+	5	2286	c.2286C>A	c.(2284-2286)TGC>TGA	p.C762*		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	762					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CGGCTAGCTGCCTGGGGGATG	0.562		NaN											1	0	6.13486e-44	0.00361	6.7046e-44	102	33				
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:169847945G>A	uc001ggs.2	-	3	379	c.181C>T	c.(181-183)CGT>TGT	p.R61C	SCYL3_uc001ggt.2_Missense_Mutation_p.R61C|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408		NaN											0	0	0	0.00361	0	113	41				
FMO2	2327	broad.mit.edu	37	1	171174608	171174608	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171174608G>T	uc001ghk.1	+	7	1135	c.1018G>T	c.(1018-1020)GAT>TAT	p.D340Y	FMO2_uc010pmd.1_Missense_Mutation_p.D120Y	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	340					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCTTGAAGATTCACTCGT	0.418		NaN											1	0	0.000673444	0.008291	0.000686996	10	27				
FMO4	2329	broad.mit.edu	37	1	171292305	171292305	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171292305G>C	uc001gho.2	+	4	512	c.295G>C	c.(295-297)GAC>CAC	p.D99H		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	99					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAGCACTTTGACCTCCTGAA	0.373		NaN											0	0	0	0.00874	0	32	44				
FMO4	2329	broad.mit.edu	37	1	171293307	171293307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293307G>C	uc001gho.2	+	5	569	c.352G>C	c.(352-354)GAC>CAC	p.D118H		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	118					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGCGTCCAGACTTCTCCGA	0.463		NaN											0	0	0	0.00361	0	123	247				
FMO4	2329	broad.mit.edu	37	1	171293376	171293376	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293376G>C	uc001gho.2	+	5	638	c.421G>C	c.(421-423)GAT>CAT	p.D141H		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	141					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCTGTCTTTGATGCTGTTAT	0.478		NaN											0	0	0	0.00361	0	260	469				
TNN	63923	broad.mit.edu	37	1	175087808	175087808	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:175087808C>G	uc001gkl.1	+	11	2611	c.2498C>G	c.(2497-2499)TCT>TGT	p.S833C		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	833	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACTACACGTCTGCCAACGGA	0.612		NaN											0	0	0	0.00361	0	125	42				
MR1	3140	broad.mit.edu	37	1	181019244	181019244	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:181019244G>C	uc001goq.1	+	3	431	c.426G>C	c.(424-426)CTG>CTC	p.L142L	MR1_uc001gop.2_Silent_p.L142L|MR1_uc001gor.1_Intron|MR1_uc001gos.1_Silent_p.L142L|MR1_uc010pns.1_Silent_p.L142L	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	142	Extracellular (Potential).|Ligand-binding.|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGGATTTCCTGATCTTCAATA	0.498		NaN											0	0	0	0.009718	0	39	47				
UCHL5	51377	broad.mit.edu	37	1	193028361	193028361	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:193028361G>A	uc001gsm.2	-	1	161	c.30C>T	c.(28-30)CTC>CTT	p.L10L	UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Silent_p.L10L|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Silent_p.L10L|UCHL5_uc001gsq.2_Silent_p.L10L|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_5'UTR|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	10					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3						CGCTTTCCATGAGGCACCACT	0.677		NaN											0	0	0	0.004007	0	13	41				
CRB1	23418	broad.mit.edu	37	1	197398672	197398672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:197398672G>T	uc001gtz.2	+	8	2905	c.2770G>T	c.(2770-2772)GAG>TAG	p.E924*	CRB1_uc010poz.1_Nonsense_Mutation_p.E900*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.E812*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.E405*|CRB1_uc001gub.1_Nonsense_Mutation_p.E573*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	924	Extracellular (Potential).|EGF-like 14.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						AGCCTGTGAGGAGGTTCAGTG	0.547		NaN											1	0	8.16721e-17	0.010818	8.70905e-17	28	62				
ZNF281	23528	broad.mit.edu	37	1	200376276	200376276	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:200376276G>C	uc001gve.2	-	2	2665	c.2558C>G	c.(2557-2559)TCT>TGT	p.S853C	ZNF281_uc001gvf.1_Missense_Mutation_p.S853C|ZNF281_uc001gvg.1_Missense_Mutation_p.S817C	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	853					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TTCTCCATTAGAGTTAGTGAT	0.418		NaN											0	0	0	0.00333	0	24	48				
ADIPOR1	51094	broad.mit.edu	37	1	202917512	202917512	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:202917512C>T	uc001gyq.3	-	3	445	c.178G>A	c.(178-180)GAA>AAA	p.E60K	ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E60K	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	60	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCCTCCTCTTCTTCCTGGGGC	0.507		NaN											0	0	0	0.001368	0	11	48				
USH2A	7399	broad.mit.edu	37	1	216465553	216465553	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216465553C>G	uc001hku.1	-	10	2191	c.1804G>C	c.(1804-1806)GGA>CGA	p.G602R	USH2A_uc001hkv.2_Missense_Mutation_p.G602R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	602	Laminin EGF-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAACTCCTCCTCCCCCTCTG	0.423		NaN								HNSCC(13;0.011)			0	0	0	0.011902	0	35	173				
ESRRG	2104	broad.mit.edu	37	1	216850701	216850701	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216850701G>A	uc001hkw.1	-	2	355	c.189C>T	c.(187-189)GAC>GAT	p.D63D	ESRRG_uc001hky.1_Silent_p.D40D|ESRRG_uc009xdp.1_Silent_p.D40D|ESRRG_uc001hkz.1_Silent_p.D40D|ESRRG_uc010puc.1_Silent_p.D40D|ESRRG_uc001hla.1_Silent_p.D40D|ESRRG_uc001hlb.1_Silent_p.D40D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D40D|ESRRG_uc001hld.1_Silent_p.D40D|ESRRG_uc001hkx.1_Silent_p.D68D|ESRRG_uc009xdo.1_Silent_p.D40D|ESRRG_uc001hle.1_Silent_p.D40D	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	63					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCCACTGGCGTCTGAAGAGC	0.572		NaN											0	0	0	0.007835	0	39	77				
SLC30A10	55532	broad.mit.edu	37	1	220089088	220089088	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:220089088C>A	uc001hlw.2	-	4	1372	c.1161G>T	c.(1159-1161)TTG>TTT	p.L387F	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.L142F|SLC30A10_uc001hlx.2_Missense_Mutation_p.L162F	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	387	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GGGGTTCCTTCAAGTCCACAT	0.517		NaN											1	0	2.79863e-10	0.004656	2.90899e-10	25	130				
C1orf65	164127	broad.mit.edu	37	1	223566977	223566977	+	Missense_Mutation	SNP	G	G	A	rs143800669		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:223566977G>A	uc001hoa.2	+	1	263	c.160G>A	c.(160-162)GAA>AAA	p.E54K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	54								p.E54K(1)		central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		TGCGGAGAGCGAAGCTGGGGC	0.736		NaN											0	0	0	0.00361	0	45	15				
GALNT2	2590	broad.mit.edu	37	1	230415081	230415081	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:230415081G>C	uc010pwa.1	+	16	1665	c.1593G>C	c.(1591-1593)CTG>CTC	p.L531L	GALNT2_uc010pvy.1_Silent_p.L493L|GALNT2_uc001htu.2_Silent_p.L143L	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	531	Lumenal (Potential).|Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACTCCAAGCTGAGGCACGTGG	0.582		NaN											0	0	0	0.012319	0	18	60				
ARID4B	51742	broad.mit.edu	37	1	235383127	235383127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383127C>A	uc001hwq.2	-	16	2062	c.1564G>T	c.(1564-1566)GAA>TAA	p.E522*	ARID4B_uc001hwr.2_Nonsense_Mutation_p.E522*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E522*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E203*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	522	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTTTTTCTTCCTCAGCTTCT	0.338		NaN											1	0	3.5997e-14	0.002299	3.80161e-14	17	58				
ARID4B	51742	broad.mit.edu	37	1	235383646	235383646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383646C>T	uc001hwq.2	-	15	1876	c.1378G>A	c.(1378-1380)GAA>AAA	p.E460K	ARID4B_uc001hwr.2_Missense_Mutation_p.E460K|ARID4B_uc001hws.3_Missense_Mutation_p.E460K|ARID4B_uc001hwt.3_Missense_Mutation_p.E141K	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	460	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTTCTTTCAATTTCATCC	0.308		NaN											0	0	0	0.004482	0	8	31				
TBCE	6905	broad.mit.edu	37	1	235611710	235611710	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235611710C>G	uc001hwz.1	+	16	1569	c.1446C>G	c.(1444-1446)CTC>CTG	p.L482L	TBCE_uc001hxa.1_Silent_p.L482L|TBCE_uc010pxr.1_Silent_p.L533L|TBCE_uc001hxb.1_Silent_p.L369L|B3GALNT2_uc001hxc.2_3'UTR	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	482					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CACGTCTTCTCAAAGTTCCTG	0.403		NaN											0	0	0	0.004289	0	28	117				
FH	2271	broad.mit.edu	37	1	241663770	241663770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:241663770G>C	uc001hyx.2	-	9	1389	c.1357C>G	c.(1357-1359)CTA>GTA	p.L453V		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	453					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCAACATTAGAGACTCATTC	0.388		NaN	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				0	0	0	0.00361	0	134	70				
OR1C1	26188	broad.mit.edu	37	1	247920818	247920818	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:247920818C>T	uc010pza.1	-	1	891	c.891G>A	c.(889-891)ATG>ATA	p.M297I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTCCCCTCTTCATATCCCTGT	0.428		NaN											0	0	0	0.00361	0	61	46				
PFKP	5214	broad.mit.edu	37	10	3155563	3155563	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:3155563G>A	uc001igp.2	+	13	1261	c.1225_splice	c.e13-1	p.T409_splice	PFKP_uc001igq.2_Splice_Site_p.T401_splice|PFKP_uc009xhr.2_Splice_Site_p.T371_splice|PFKP_uc009xhs.1_Splice_Site_p.T193_splice|PFKP_uc009xht.2_Splice_Site_p.T147_splice|PFKP_uc009xhu.2_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGTTTTGCAGACCAATTGCA	0.607		NaN											0	0	0	0.001984	0	6	35				
FAM171A1	221061	broad.mit.edu	37	10	15326105	15326105	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:15326105C>G	uc001iob.2	-	2	105	c.98_splice	c.e2-1	p.E33_splice		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor							integral to membrane				ovary(2)|breast(1)|skin(1)	4						AACGTCACCTCTGGAGGTAGA	0.527		NaN											0	0	0	0.003163	0	15	65				
YME1L1	10730	broad.mit.edu	37	10	27437904	27437904	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437904G>A	uc001iti.2	-	2	281	c.99C>T	c.(97-99)CTC>CTT	p.L33L	YME1L1_uc001itj.2_Silent_p.L33L|YME1L1_uc010qdl.1_Silent_p.L33L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L33L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	33					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ACACTCCACTGAGAGAAACAG	0.408		NaN											0	0	0	0.00361	0	49	199				
YME1L1	10730	broad.mit.edu	37	10	27437951	27437951	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437951G>A	uc001iti.2	-	2	234	c.52C>T	c.(52-54)CAT>TAT	p.H18Y	YME1L1_uc001itj.2_Missense_Mutation_p.H18Y|YME1L1_uc010qdl.1_Missense_Mutation_p.H18Y|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Missense_Mutation_p.H18Y	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	18					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTGATGAGATGACTCAGAGGA	0.343		NaN											0	0	0	0.00361	0	33	157				
YME1L1	10730	broad.mit.edu	37	10	27437957	27437957	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437957G>A	uc001iti.2	-	2	228	c.46C>T	c.(46-48)CTG>TTG	p.L16L	YME1L1_uc001itj.2_Silent_p.L16L|YME1L1_uc010qdl.1_Silent_p.L16L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L16L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	16					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						AGATGACTCAGAGGAACTGTA	0.338		NaN											0	0	0	0.006999	0	28	139				
WAC	51322	broad.mit.edu	37	10	28897142	28897142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:28897142C>G	uc001iuf.2	+	8	1032	c.947C>G	c.(946-948)TCA>TGA	p.S316*	WAC_uc001iud.2_Nonsense_Mutation_p.S271*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.S271*|WAC_uc001iug.2_Nonsense_Mutation_p.S213*|WAC_uc001iuh.2_Nonsense_Mutation_p.S271*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	316					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						AAACCCGTATCACATTCTTGC	0.433		NaN											0	0	0	0.00361	0	66	107				
PARD3	56288	broad.mit.edu	37	10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:34805961G>A	uc010qej.1	-	3	349	c.349C>T	c.(349-351)CAG>TAG	p.Q117*	PARD3_uc010qek.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qel.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qem.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qen.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeo.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qep.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixp.1_5'UTR|PARD3_uc001ixq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixr.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixt.1_5'UTR|PARD3_uc001ixu.1_Nonsense_Mutation_p.Q117*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	117					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473		NaN											0	0	0	0.00361	0	46	78				
PCDH15	65217	broad.mit.edu	37	10	55569091	55569091	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:55569091G>A	uc010qhs.1	-	37	5129	c.4734C>T	c.(4732-4734)CGC>CGT	p.R1578R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.R1571R|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCCTCAAGGCGTCTCTGCC	0.428		NaN								HNSCC(58;0.16)			0	0	0	0.010729	0	9	31				
DDX21	9188	broad.mit.edu	37	10	70733307	70733307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70733307G>C	uc001jov.1	+	10	1645	c.1555G>C	c.(1555-1557)GAG>CAG	p.E519Q	DDX21_uc001jow.1_Missense_Mutation_p.E451Q	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	519	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						ATAGGATGTAGAGTCCTACAT	0.443		NaN											0	0	0	0.010771	0	35	22				
HKDC1	80201	broad.mit.edu	37	10	70992797	70992797	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70992797G>T	uc001jpf.3	+	4	536	c.403G>T	c.(403-405)GCA>TCA	p.A135S	HKDC1_uc010qje.1_5'UTR	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	135					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TGACTGTCTGGCAGATTTCAT	0.468		NaN											1	0	7.93312e-07	0.00245	8.15589e-07	14	48				
COX15	1355	broad.mit.edu	37	10	101480768	101480768	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101480768G>C	uc001kqb.3	-	6	1425	c.808C>G	c.(808-810)CTG>GTG	p.L270V	COX15_uc001kqc.3_Missense_Mutation_p.L270V|COX15_uc010qpj.1_Missense_Mutation_p.L91V	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	270	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGAACACCAGACCTGCTGTT	0.463		NaN											0	0	0	0.006214	0	7	13				
ABCC2	1244	broad.mit.edu	37	10	101567904	101567904	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101567904A>C	uc001kqf.2	+	13	1872	c.1733A>C	c.(1732-1734)AAG>ACG	p.K578T		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	578	ABC transmembrane type-1 1.|Extracellular (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATGCACAAAAGGCCTTCACC	0.463		NaN											0	0	0	0.008871	0	20	107				
PNLIPRP1	5407	broad.mit.edu	37	10	118365052	118365052	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:118365052G>C	uc001lco.1	+	12	1345	c.1327G>C	c.(1327-1329)GAA>CAA	p.E443Q	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E443Q	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	443	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		GCAAAAGGGAGAAGAGAAGAC	0.403		NaN											0	0	0	0.00361	0	38	44				
SLC18A2	6571	broad.mit.edu	37	10	119014792	119014792	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:119014792C>A	uc001ldd.1	+	7	736	c.705C>A	c.(703-705)GGC>GGA	p.G235G	SLC18A2_uc009xyy.1_Silent_p.G32G	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	235	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCAGTGGGCCCCCCCTTCG	0.572		NaN											1	0	6.33695e-27	0.007835	6.8685e-27	33	66				
C10orf137	26098	broad.mit.edu	37	10	127413965	127413965	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:127413965G>C	uc001liq.1	+	5	882	c.589G>C	c.(589-591)GAG>CAG	p.E197Q	C10orf137_uc001lin.2_Missense_Mutation_p.E197Q|C10orf137_uc001lio.1_Missense_Mutation_p.E197Q|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAGAGCAAAGAGCACTGGTA	0.348		NaN											0	0	0	0.008291	0	8	21				
PTPRE	5791	broad.mit.edu	37	10	129877885	129877885	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:129877885G>T	uc001lkb.2	+	20	2233	c.1954G>T	c.(1954-1956)GCC>TCC	p.A652S	PTPRE_uc009yat.2_Missense_Mutation_p.A663S|PTPRE_uc009yau.2_Missense_Mutation_p.A652S|PTPRE_uc001lkd.2_Missense_Mutation_p.A594S|PTPRE_uc010quq.1_Intron	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	652	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCGAGTAAAAGCCGAGGGACT	0.458		NaN											1	0	0.004672	0.004672	0.00472216	3	40				
KNDC1	85442	broad.mit.edu	37	10	135038330	135038330	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:135038330C>G	uc001llz.1	+	30	5187	c.5186C>G	c.(5185-5187)TCC>TGC	p.S1729C		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1729					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CACCAGGTCTCCAGCGAGAAG	0.577		NaN											0	0	0	0.011902	0	36	10				
MUC5B	727897	broad.mit.edu	37	11	1272679	1272679	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:1272679G>A	uc009ycr.1	+	52	15661	c.15535G>A	c.(15535-15537)GTG>ATG	p.V5179M	MUC5B_uc001ltb.2_Missense_Mutation_p.V4860M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4857	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TATAGCCACCGTGATGGTGCC	0.632		NaN											0	0	0	0.004289	0	32	138				
OR52I1	390037	broad.mit.edu	37	11	4616239	4616239	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:4616239C>G	uc010qyi.1	+	1	971	c.971C>G	c.(970-972)TCA>TGA	p.S324*		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	324	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACCTGGGTTCATGAACACAA	0.433		NaN											0	0	0	0.00632	0	24	89				
PIK3C2A	5286	broad.mit.edu	37	11	17172072	17172072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:17172072G>A	uc001mmq.3	-	3	1366	c.1300C>T	c.(1300-1302)CAG>TAG	p.Q434*	PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.Q54*|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.Q434*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.Q434*	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	434					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ACTGGTAGCTGAAATCCTTCA	0.403		NaN											0	0	0	0.008361	0	25	102				
CCDC73	493860	broad.mit.edu	37	11	32705116	32705116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:32705116G>C	uc001mtv.2	-	7	439	c.395C>G	c.(394-396)TCT>TGT	p.S132C	CCDC73_uc001mtw.1_Missense_Mutation_p.S132C|CCDC73_uc009yjt.2_Missense_Mutation_p.S132C	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	132	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					AGAGTATTTAGAAACCTTGAA	0.328		NaN											0	0	0	0.004878	0	29	7				
AMBRA1	55626	broad.mit.edu	37	11	46529801	46529801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:46529801G>C	uc010rgu.1	-	9	2639	c.2279C>G	c.(2278-2280)TCT>TGT	p.S760C	AMBRA1_uc010rgt.1_Missense_Mutation_p.S326C|AMBRA1_uc009ylc.1_Missense_Mutation_p.S731C|AMBRA1_uc001ncu.1_Missense_Mutation_p.S670C|AMBRA1_uc001ncv.2_Missense_Mutation_p.S763C|AMBRA1_uc001ncw.2_Missense_Mutation_p.S641C|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	760					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCTGAGGAAGAGGAGGAGGT	0.517		NaN											0	0	0	0.008361	0	24	67				
OR4A5	81318	broad.mit.edu	37	11	51412330	51412330	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:51412330T>C	uc001nhi.1	-	1	66	c.66A>G	c.(64-66)CAA>CAG	p.Q22Q		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ATAATGCTTTTTGCACACCAG	0.428		NaN											0	0	0	0.001368	0	10	35				
OR4D11	219986	broad.mit.edu	37	11	59271357	59271357	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59271357C>T	uc001noa.1	+	1	309	c.309C>T	c.(307-309)CTC>CTT	p.L103L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGATATTTCTCTTCCACCTCC	0.468		NaN											0	0	0	0.00361	0	109	59				
STX3	6809	broad.mit.edu	37	11	59560641	59560641	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59560641C>T	uc001nog.2	+	7	726	c.536C>T	c.(535-537)TCT>TTT	p.S179F	STX3_uc010rkx.1_Missense_Mutation_p.S179F|STX3_uc010rky.1_Missense_Mutation_p.S82F|STX3_uc009ymt.1_Missense_Mutation_p.S82F	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	179	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						ATCTTCACTTCTGGGGTGAGT	0.562		NaN											0	0	0	0.002299	0	20	14				
TMEM132A	54972	broad.mit.edu	37	11	60702234	60702234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:60702234G>A	uc001nqj.2	+	9	2027	c.1834G>A	c.(1834-1836)GAG>AAG	p.E612K	TMEM132A_uc001nqi.2_Missense_Mutation_p.E613K|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	612	Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CACCTCCATTGAGGTAAGCAG	0.667		NaN											0	0	0	0.006999	0	34	19				
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293224C>G	uc001ntl.2	-	5	8965	c.8665G>C	c.(8665-8667)GAC>CAC	p.D2889H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2889					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517		NaN											0	0	0	0.00361	0	74	257				
AHNAK	79026	broad.mit.edu	37	11	62293741	62293741	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293741C>T	uc001ntl.2	-	5	8448	c.8148G>A	c.(8146-8148)CTG>CTA	p.L2716L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2716					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGGTCCTTTCAGGTTTAAGT	0.473		NaN											0	0	0	0.00361	0	58	181				
AHNAK	79026	broad.mit.edu	37	11	62293851	62293851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293851C>G	uc001ntl.2	-	5	8338	c.8038G>C	c.(8038-8040)GAT>CAT	p.D2680H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2680					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTTAACATCAGGGCCTTCA	0.498		NaN											0	0	0	0.00361	0	53	159				
AHNAK	79026	broad.mit.edu	37	11	62295310	62295310	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62295310C>G	uc001ntl.2	-	5	6879	c.6579G>C	c.(6577-6579)TTG>TTC	p.L2193F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2193					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGGGCCTTTCAAGTTTAAGT	0.473		NaN											0	0	0	0.00361	0	106	352				
EEF1G	1937	broad.mit.edu	37	11	62327634	62327634	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62327634C>G	uc001ntm.1	-	9	1208	c.1062G>C	c.(1060-1062)AAG>AAC	p.K354N	EEF1G_uc010rlw.1_Missense_Mutation_p.K404N|EEF1G_uc001ntn.1_Missense_Mutation_p.K234N	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	354	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						CGAAGGCATTCTTCCTCAGCT	0.517		NaN											0	0	0	0.011902	0	45	19				
COX8A	1351	broad.mit.edu	37	11	63742235	63742235	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:63742235C>G	uc001nye.2	+	1	157	c.83C>G	c.(82-84)TCG>TGG	p.S28W		NM_004074	NP_004065	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIa precursor	28	Mitochondrial matrix (By similarity).				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0						AAGATCCATTCGTTGCCGCCG	0.687		NaN											0	0	0	0.001368	0	12	20				
CTTN	2017	broad.mit.edu	37	11	70281143	70281143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:70281143G>A	uc001opv.3	+	18	1734	c.1528G>A	c.(1528-1530)GAG>AAG	p.E510K	CTTN_uc001opu.2_Missense_Mutation_p.E473K|CTTN_uc001opw.3_Missense_Mutation_p.E473K|CTTN_uc010rqm.1_Missense_Mutation_p.E194K|CTTN_uc001opx.2_Missense_Mutation_p.E194K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	510	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGCGATGATGAGATCTCATT	0.557		NaN											0	0	0	0.00361	0	42	145				
TSKU	25987	broad.mit.edu	37	11	76506762	76506762	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76506762C>T	uc001oxt.2	+	2	274	c.102C>T	c.(100-102)TTC>TTT	p.F34F		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	34	LRRNT.					extracellular region					0	Ovarian(111;0.112)					TCGGCCTTTTCGACAGCTTCA	0.662		NaN											0	0	0	0.003271	0	32	87				
TSKU	25987	broad.mit.edu	37	11	76507100	76507100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76507100C>T	uc001oxt.2	+	2	612	c.440C>T	c.(439-441)TCA>TTA	p.S147L		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	147	LRR 4.					extracellular region					0	Ovarian(111;0.112)					CGGGAGGTCTCAGTGTCTGCC	0.652		NaN											0	0	0	0.007291	0	27	117				
ODZ4	26011	broad.mit.edu	37	11	78381538	78381538	+	Missense_Mutation	SNP	T	T	C	rs76161186		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:78381538T>C	uc001ozl.3	-	32	6315	c.5852A>G	c.(5851-5853)GAC>GGC	p.D1951G	ODZ4_uc001ozk.3_Missense_Mutation_p.D176G|ODZ4_uc009yvb.1_Missense_Mutation_p.D535G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1951	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGAGAGGCGGTCATTCTTGTC	0.547		NaN											0	0	0	0.001984	0	6	122				
FOLH1B	219595	broad.mit.edu	37	11	89424091	89424091	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:89424091C>A	uc001pda.2	+	11	1267	c.741C>A	c.(739-741)GTC>GTA	p.V247V		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	247					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ATCACAGTGTCTATGAAACAT	0.373		NaN											1	0	0.00307968	0.00308	0.00312232	5	44				
USP28	57646	broad.mit.edu	37	11	113694393	113694393	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:113694393C>T	uc001poh.2	-	12	1250	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q	USP28_uc001pog.2_Missense_Mutation_p.R114Q|USP28_uc010rwy.1_Missense_Mutation_p.R281Q|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R406Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	406					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTATTTCGAATAAGCTC	0.284		NaN											0	0	0	0.00245	0	11	4				
SIAE	54414	broad.mit.edu	37	11	124518069	124518069	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:124518069G>A	uc001qan.2	-	6	838	c.725C>T	c.(724-726)TCC>TTC	p.S242F		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor	242						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GTATGGAATGGACCTGAAATC	0.443		NaN											0	0	0	0.003954	0	23	25				
ARHGAP32	9743	broad.mit.edu	37	11	128936700	128936700	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:128936700G>C	uc009zcp.2	-	6	553	c.553C>G	c.(553-555)CTG>GTG	p.L185V	ARHGAP32_uc009zcq.1_Missense_Mutation_p.L145V|ARHGAP32_uc001qfb.2_Translation_Start_Site	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	185	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TAAATACACAGATGAAGATGT	0.373		NaN											0	0	0	0.000602	0	5	28				
ADAMTS8	11095	broad.mit.edu	37	11	130275534	130275534	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130275534G>A	uc001qgg.3	-	9	2947	c.2589C>T	c.(2587-2589)TCC>TCT	p.S863S	ADAMTS8_uc001qgf.2_Silent_p.S344S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	863	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGCCTGGCCGGAGGGGTCCC	0.672		NaN											0	0	0	0.009096	0	3	68				
SNX19	399979	broad.mit.edu	37	11	130785702	130785702	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130785702G>C	uc001qgk.3	-	1	681	c.133C>G	c.(133-135)CTG>GTG	p.L45V	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.L45V|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	45					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGTTGACCAGAAGGTGTATG	0.587		NaN											0	0	0	0.002299	0	20	71				
VPS26B	112936	broad.mit.edu	37	11	134113161	134113161	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:134113161G>C	uc001qhe.2	+	4	1150	c.694G>C	c.(694-696)GAG>CAG	p.E232Q		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	232					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGCCAAGTACGAGATCATGGA	0.537		NaN											0	0	0	0.006214	0	9	22				
ENO2	2026	broad.mit.edu	37	12	7031509	7031509	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:7031509C>G	uc001qru.1	+	11	1401	c.1179C>G	c.(1177-1179)ATC>ATG	p.I393M	ENO2_uc009zfi.1_Missense_Mutation_p.I393M|ENO2_uc010sfq.1_Missense_Mutation_p.I350M|ENO2_uc001qrv.1_Missense_Mutation_p.I393M|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	393					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						TGTTTCAGATCAAGACTGGTG	0.547		NaN											0	0	0	0.013114	0	38	62				
DDX47	51202	broad.mit.edu	37	12	12978977	12978977	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:12978977C>G	uc001rav.2	+	13	1677	c.1079C>G	c.(1078-1080)TCC>TGC	p.S360C	DDX47_uc001rax.2_Missense_Mutation_p.S360C|DDX47_uc001ray.2_Missense_Mutation_p.S311C	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	360	Helicase C-terminal.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGGCGCTCCGGAAAGGCT	0.254		NaN											0	0	0	0.000602	0	5	47				
DDX47	51202	broad.mit.edu	37	12	12980212	12980212	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:12980212A>T	uc001rav.2	+	14	1737	c.1139A>T	c.(1138-1140)CAC>CTC	p.H380L	DDX47_uc001rax.2_Missense_Mutation_p.H380L|DDX47_uc001ray.2_Missense_Mutation_p.H331L	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CGCATAGAACACTTAATTGGG	0.473		NaN											0	0	0	0.003755	0	35	111				
GSG1	83445	broad.mit.edu	37	12	13243611	13243611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:13243611C>T	uc001rbn.2	-	2	363	c.190G>A	c.(190-192)GAG>AAG	p.E64K	GSG1_uc001rbj.2_Missense_Mutation_p.E51K|GSG1_uc001rbk.2_Missense_Mutation_p.E51K|GSG1_uc001rbl.2_Missense_Mutation_p.E51K|GSG1_uc001rbm.2_Missense_Mutation_p.E51K|GSG1_uc001rbo.2_Missense_Mutation_p.E64K|GSG1_uc001rbp.2_Missense_Mutation_p.E64K|GSG1_uc001rbq.1_Missense_Mutation_p.E64K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	51						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGACCTTTCTCGCACAGGGGC	0.542		NaN											0	0	0	0.00361	0	56	95				
PDE3A	5139	broad.mit.edu	37	12	20803462	20803462	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:20803462C>G	uc001reh.1	+	14	2875	c.2853C>G	c.(2851-2853)ATC>ATG	p.I951M		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	951	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCTGATATCAATGGTCCAG	0.348		NaN											0	0	0	0.003271	0	32	31				
ST8SIA1	6489	broad.mit.edu	37	12	22408294	22408294	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:22408294T>A	uc001rfo.3	-	3	893	c.411A>T	c.(409-411)AAA>AAT	p.K137N	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	137	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CCACCGCGCATTTCTTCAATG	0.478		NaN											0	0	0	0.00361	0	108	107				
BCAT1	586	broad.mit.edu	37	12	25031487	25031487	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:25031487G>A	uc001rgd.3	-	5	929	c.487C>T	c.(487-489)CGT>TGT	p.R163C	BCAT1_uc001rgc.2_Missense_Mutation_p.R162C|BCAT1_uc010six.1_Missense_Mutation_p.R175C|BCAT1_uc010siy.1_Missense_Mutation_p.R126C|BCAT1_uc001rge.3_Missense_Mutation_p.R102C	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	163					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGTAGGACGAATATACAGA	0.373		NaN											0	0	0	0.008361	0	23	26				
MLL2	8085	broad.mit.edu	37	12	49447270	49447270	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:49447270G>A	uc001rta.3	-	6	828	c.828C>T	c.(826-828)TGC>TGT	p.C276C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	276	PHD-type 2.|PHD-type 1.|RING-type 2; degenerate.|Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGCAGGCTTGGCACACTTTGC	0.557		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.00308	0	6	16				
BCDIN3D	144233	broad.mit.edu	37	12	50232675	50232675	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:50232675C>T	uc001rvh.2	-	2	400	c.358G>A	c.(358-360)GAA>AAA	p.E120K	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	120	Bin3-type SAM.						methyltransferase activity			ovary(1)	1						CATTCTTTTTCGGCTCGCTTC	0.488		NaN									OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	17	50				
DIP2B	57609	broad.mit.edu	37	12	51117053	51117053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51117053C>G	uc001rwv.2	+	27	3391	c.3235C>G	c.(3235-3237)CCA>GCA	p.P1079A	DIP2B_uc009zlt.2_Missense_Mutation_p.P509A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1079						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CGTCAGACCTCCACATGCTCA	0.522		NaN											0	0	0	0.013114	0	36	98				
DIP2B	57609	broad.mit.edu	37	12	51118560	51118560	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51118560C>T	uc001rwv.2	+	28	3447	c.3291C>T	c.(3289-3291)GTC>GTT	p.V1097V	DIP2B_uc009zlt.2_Silent_p.V527V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1097						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TTTTCTAGGTCAGCAAAGCAG	0.532		NaN											0	0	0	0.00245	0	8	53				
DIP2B	57609	broad.mit.edu	37	12	51121551	51121551	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51121551C>G	uc001rwv.2	+	29	3622	c.3466C>G	c.(3466-3468)CTT>GTT	p.L1156V	DIP2B_uc009zlt.2_Missense_Mutation_p.L586V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1156						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GTTGGCATATCTTGATTTTAG	0.433		NaN											0	0	0	0.00361	0	42	114				
METTL7A	25840	broad.mit.edu	37	12	51319290	51319290	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51319290C>T	uc001rxb.2	+	1	757	c.469C>T	c.(469-471)CTC>TTC	p.L157F	METTL7A_uc010smv.1_Intron	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	157						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						GGAGCGGATTCTCCGCGAGGT	0.562		NaN											0	0	0	0.007413	0	18	36				
POU6F1	5463	broad.mit.edu	37	12	51585471	51585471	+	Silent	SNP	G	G	A	rs150600315	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585471G>A	uc001rxy.2	-	4	660	c.468C>T	c.(466-468)ATC>ATT	p.I156I	POU6F1_uc001rxz.2_Silent_p.I156I|POU6F1_uc001rya.2_Silent_p.I156I	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	156	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGAGCCGCCGGATCTTAAAGT	0.572		NaN											0	0	0	0.00361	0	43	93				
POU6F1	5463	broad.mit.edu	37	12	51585498	51585498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585498G>C	uc001rxy.2	-	4	633	c.441C>G	c.(439-441)ATC>ATG	p.I147M	POU6F1_uc001rxz.2_Missense_Mutation_p.I147M|POU6F1_uc001rya.2_Missense_Mutation_p.I147M	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	147	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAAACTCCCGGATCTCTTCTA	0.557		NaN											0	0	0	0.00361	0	52	118				
POU6F1	5463	broad.mit.edu	37	12	51586129	51586129	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586129G>A	uc001rxy.2	-	3	567	c.375C>T	c.(373-375)GTC>GTT	p.V125V	POU6F1_uc001rxz.2_Silent_p.V125V|POU6F1_uc001rya.2_Silent_p.V125V	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	125	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCAACTGGCTGACGGTGGGGG	0.582		NaN											0	0	0	0.00361	0	52	176				
POU6F1	5463	broad.mit.edu	37	12	51586207	51586207	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586207G>A	uc001rxy.2	-	3	489	c.297C>T	c.(295-297)GTC>GTT	p.V99V	POU6F1_uc001rxz.2_Silent_p.V99V|POU6F1_uc001rya.2_Silent_p.V99V	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	99	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCTGGCAATGACCACAGCAG	0.607		NaN											0	0	0	0.00361	0	50	147				
KRT18	3875	broad.mit.edu	37	12	53345344	53345344	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53345344C>A	uc001sbe.2	+	5	806	c.737C>A	c.(736-738)GCC>GAC	p.A246D	KRT18_uc009zmn.1_Missense_Mutation_p.A246D|KRT18_uc001sbf.1_Missense_Mutation_p.A73D|KRT18_uc001sbg.2_Missense_Mutation_p.A246D|KRT18_uc009zmo.2_Missense_Mutation_p.A246D|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	246	Interaction with DNAJB6.|Linker 12.|Rod.|Necessary for interaction with PNN.			A -> S (in Ref. 8; CAA31369).	anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						CAGGACCTCGCCAAGATCATG	0.562		NaN											1	0	7.93312e-07	0.00245	8.15589e-07	12	30				
RARG	5916	broad.mit.edu	37	12	53607440	53607440	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607440C>G	uc001sce.2	-	8	1343	c.858G>C	c.(856-858)ATG>ATC	p.M286I	RARG_uc001scd.2_Missense_Mutation_p.M275I|RARG_uc010sob.1_Missense_Mutation_p.M264I|RARG_uc001scf.2_Missense_Mutation_p.M286I|RARG_uc001scg.2_Missense_Mutation_p.M214I|RARG_uc010soc.1_Missense_Mutation_p.M165I|RARG_uc010sod.1_Missense_Mutation_p.M323I	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	286	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGAGAAGGTCATGGTGTCCT	0.607		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	91	65				
RARG	5916	broad.mit.edu	37	12	53607956	53607956	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607956C>G	uc001sce.2	-	7	1185	c.700G>C	c.(700-702)GCT>CCT	p.A234P	RARG_uc001scd.2_Missense_Mutation_p.A223P|RARG_uc010sob.1_Missense_Mutation_p.A212P|RARG_uc001scf.2_Missense_Mutation_p.A234P|RARG_uc001scg.2_Missense_Mutation_p.A162P|RARG_uc010soc.1_Missense_Mutation_p.A113P|RARG_uc010sod.1_Missense_Mutation_p.A271P	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	234	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACTTGGTAGCCAGCTCACTG	0.567		NaN											0	0	0	0.010771	0	41	113				
HOXC9	3225	broad.mit.edu	37	12	54394234	54394234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54394234G>A	uc001sep.2	+	2	360	c.262G>A	c.(262-264)GCC>ACC	p.A88T	HOXC9_uc001seq.2_Missense_Mutation_p.A88T	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	88					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						CCACCTCGGCGCCGACACGCG	0.711		NaN											0	0	0	0.007835	0	33	19				
NFE2	4778	broad.mit.edu	37	12	54686942	54686942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54686942G>C	uc009znk.2	-	2	848	c.338C>G	c.(337-339)TCA>TGA	p.S113*	NFE2_uc001sfq.2_Nonsense_Mutation_p.S113*|NFE2_uc001sfr.3_Nonsense_Mutation_p.S113*|NFE2_uc009znl.2_Nonsense_Mutation_p.S113*	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	113	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GAGCAGGCCTGAGAGGCTCAG	0.592		NaN											0	0	0	0.00361	0	44	108				
SMARCC2	6601	broad.mit.edu	37	12	56572315	56572315	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:56572315C>G	uc001skb.2	-	14	1289	c.1183G>C	c.(1183-1185)GAG>CAG	p.E395Q	SMARCC2_uc001skd.2_Missense_Mutation_p.E395Q|SMARCC2_uc001ska.2_Missense_Mutation_p.E395Q|SMARCC2_uc001skc.2_Missense_Mutation_p.E395Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.E284Q	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	395					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTCATCCTCATCCTACGAG	0.527		NaN											0	0	0	0.00361	0	77	45		Valid		
CAND1	55832	broad.mit.edu	37	12	67700122	67700122	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:67700122C>G	uc001stn.2	+	10	3111	c.2674C>G	c.(2674-2676)CTG>GTG	p.L892V	CAND1_uc001sto.2_Missense_Mutation_p.L402V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	892	HEAT 21.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCCTGAATATCTGCCGTTTGT	0.418		NaN											0	0	0	0.007413	0	15	113				
STAB2	55576	broad.mit.edu	37	12	104123937	104123937	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:104123937A>C	uc001tjw.2	+	49	5312	c.5126A>C	c.(5125-5127)GAT>GCT	p.D1709A	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1709	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ATATCCAGTGATATCATCAGT	0.333		NaN											0	0	0	0.012213	0	27	42				
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:120875952C>T	uc001tyf.1	+	1	49	c.23C>T	c.(22-24)TCG>TTG	p.S8L		NM_004373	NP_004364	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637		NaN											0	0	0	0.003954	0	21	6				
HIP1R	9026	broad.mit.edu	37	12	123338615	123338615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:123338615C>T	uc001udj.1	+	8	662	c.603C>T	c.(601-603)ATC>ATT	p.I201I	HIP1R_uc001udg.1_Silent_p.I189I|HIP1R_uc001udi.1_Silent_p.I201I	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	201					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACACGGCCATCGCCGTATCCC	0.602		NaN											0	0	0	0.00361	0	88	246				
EP400	57634	broad.mit.edu	37	12	132547196	132547196	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:132547196G>A	uc001ujn.2	+	46	8319	c.8284G>A	c.(8284-8286)GGC>AGC	p.G2762S	EP400_uc001ujl.2_Missense_Mutation_p.G2761S|EP400_uc001ujm.2_Missense_Mutation_p.G2681S|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2798					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGATCCAGGGCCAGGCCCA	0.418		NaN											0	0	0	0.00361	0	51	48				
ZDHHC20	253832	broad.mit.edu	37	13	21955650	21955650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:21955650C>T	uc001uob.2	-	11	1093	c.980G>A	c.(979-981)AGT>AAT	p.S327N	ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Missense_Mutation_p.S265N	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	328						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTGATTCACTAAGTGGTTT	0.378		NaN											0	0	0	0.009718	0	35	14				
ATP12A	479	broad.mit.edu	37	13	25274960	25274960	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25274960C>T	uc001upp.2	+	13	1968	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	ATP12A_uc010aaa.2_Missense_Mutation_p.P600L	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	594	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAACTTTCCGACCTCCAAC	0.488		NaN											0	0	0	0.00361	0	61	28				
PABPC3	5042	broad.mit.edu	37	13	25671754	25671754	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25671754C>T	uc001upy.2	+	1	1479	c.1418C>T	c.(1417-1419)ACG>ATG	p.T473M		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCATGTCAACGCAGCGTGTT	0.423		NaN											0	0	0	0.00278	0	20	88				
RNF6	6049	broad.mit.edu	37	13	26788716	26788716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:26788716C>T	uc001uqo.2	-	5	1594	c.1303G>A	c.(1303-1305)GAA>AAA	p.E435K	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.E435K|RNF6_uc001uqp.2_Missense_Mutation_p.E435K|RNF6_uc001uqq.2_Missense_Mutation_p.E435K|RNF6_uc010tdk.1_Missense_Mutation_p.E79K	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	435					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTATTGCTTTCAATAGTGACT	0.438		NaN											0	0	0	0.00361	0	39	126				
BRCA2	675	broad.mit.edu	37	13	32911868	32911868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32911868G>C	uc001uub.1	+	11	3603	c.3376G>C	c.(3376-3378)GAA>CAA	p.E1126Q		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1126					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGTCAGTTTGAATTTACTCA	0.343		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.003163	0	15	28				
BRCA2	675	broad.mit.edu	37	13	32912648	32912648	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32912648G>T	uc001uub.1	+	11	4383	c.4156G>T	c.(4156-4158)GAT>TAT	p.D1386Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATTTGTCAGATTTAACTTT	0.338		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			1	0	0.00136819	0.001368	0.00139357	10	36				
BRCA2	675	broad.mit.edu	37	13	32913201	32913201	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32913201G>C	uc001uub.1	+	11	4936	c.4709G>C	c.(4708-4710)AGA>ACA	p.R1570T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1570					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTAAAGTACAGAGAGGCCTGT	0.383		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.008871	0	16	86				
BRCA2	675	broad.mit.edu	37	13	32914175	32914175	+	Missense_Mutation	SNP	G	G	A	rs146351301	by1000genomes	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914175G>A	uc001uub.1	+	11	5910	c.5683G>A	c.(5683-5685)GAG>AAG	p.E1895K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1895					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGGTTGTTACGAGGCATTGGA	0.338		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.008291	0	10	48				
BRCA2	675	broad.mit.edu	37	13	32914223	32914223	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914223G>A	uc001uub.1	+	11	5958	c.5731G>A	c.(5731-5733)GAT>AAT	p.D1911N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1911					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAGATAATGATGAATGTAG	0.338		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.001368	0	11	38				
SCEL	8796	broad.mit.edu	37	13	78163292	78163292	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163292C>T	uc001vki.2	+	10	729	c.559C>T	c.(559-561)CAC>TAC	p.H187Y	SCEL_uc001vkj.2_Missense_Mutation_p.H187Y|SCEL_uc010thx.1_Missense_Mutation_p.H165Y	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	187					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCAGGTGTTCACCCTCCAAT	0.393		NaN											0	0	0	0.006122	0	14	70				
SCEL	8796	broad.mit.edu	37	13	78163298	78163298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163298C>T	uc001vki.2	+	10	735	c.565C>T	c.(565-567)CCA>TCA	p.P189S	SCEL_uc001vkj.2_Missense_Mutation_p.P189S|SCEL_uc010thx.1_Missense_Mutation_p.P167S	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	189					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTTCACCCTCCAATACCTCC	0.393		NaN											0	0	0	0.008871	0	15	75				
DZIP1	22873	broad.mit.edu	37	13	96238358	96238358	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:96238358C>T	uc001vmk.2	-	21	3103	c.2251G>A	c.(2251-2253)GAA>AAA	p.E751K	DZIP1_uc001vmi.2_5'UTR|DZIP1_uc001vmj.2_Missense_Mutation_p.E227K|DZIP1_uc001vml.2_Missense_Mutation_p.E732K|DZIP1_uc001vmm.2_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	751					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACATCTTTTCAACTTTTTCA	0.308		NaN											0	0	0	0.008291	0	10	26				
NALCN	259232	broad.mit.edu	37	13	101735186	101735186	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:101735186C>G	uc001vox.1	-	33	3928	c.3739G>C	c.(3739-3741)GTT>CTT	p.V1247L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1247	Helical; Name=S2 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGGTGAAAACAACTGACATT	0.493		NaN											0	0	0	0.00632	0	26	106				
TPP2	7174	broad.mit.edu	37	13	103275268	103275268	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:103275268C>T	uc001vpi.3	+	6	765	c.662C>T	c.(661-663)TCT>TTT	p.S221F		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	221					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAGTAAATCTACCGTGTTG	0.343		NaN											0	0	0	0.003954	0	23	109				
CARS2	79587	broad.mit.edu	37	13	111340160	111340160	+	Missense_Mutation	SNP	G	G	A	rs143602497		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:111340160G>A	uc001vrd.2	-	5	519	c.479C>T	c.(478-480)ACG>ATG	p.T160M	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	160					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CAGGTACACCGTGGGTGGGAG	0.507		NaN											0	0	0	0.00361	0	47	131				
PROZ	8858	broad.mit.edu	37	13	113814360	113814360	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:113814360C>T	uc001vta.1	+	2	110	c.103C>T	c.(103-105)CTG>TTG	p.L35L	PROZ_uc010agr.1_Silent_p.L57L	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	35					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AAACGACGTTCTGGTGAGGTG	0.517		NaN											0	0	0	0.00361	0	72	233				
FAM70B	348013	broad.mit.edu	37	13	114503880	114503880	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:114503880C>T	uc001vuh.2	+	6	531	c.504C>T	c.(502-504)TGC>TGT	p.C168C		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	168						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TCTATGCCTGCGGGAGGTGAG	0.647		NaN											0	0	0	0.004289	0	20	12				
PSME1	5720	broad.mit.edu	37	14	24606976	24606976	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24606976G>A	uc001wmg.2	+	6	454	c.360G>A	c.(358-360)GAG>GAA	p.E120E	PSME1_uc001wmh.2_Silent_p.E120E	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		TGAAGCCTGAGATCAAGGATG	0.512		NaN											0	0	0	0.007835	0	29	48				
TGM1	7051	broad.mit.edu	37	14	24727513	24727513	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24727513G>A	uc001wod.2	-	9	1504	c.1380C>T	c.(1378-1380)GCC>GCT	p.A460A	TGM1_uc010tog.1_Silent_p.A18A	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	460					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGGGGTGTGGCATCCACCA	0.592		NaN											0	0	0	0.003954	0	21	29				
NUBPL	80224	broad.mit.edu	37	14	32068580	32068580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:32068580C>T	uc001wrk.3	+	4	432	c.377C>T	c.(376-378)TCA>TTA	p.S126L	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.S30L	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	126					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CCGGAATTATCACAGAGTAAG	0.234		NaN											0	0	0	0.004007	0	17	26				
ARHGAP5	394	broad.mit.edu	37	14	32560834	32560834	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:32560834C>G	uc001wrl.2	+	2	1198	c.959C>G	c.(958-960)TCA>TGA	p.S320*	ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	320	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATACATTCTCAAAACATATA	0.299		NaN											0	0	0	0.007413	0	15	19				
CFL2	1073	broad.mit.edu	37	14	35182587	35182587	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:35182587C>G	uc001wsg.3	-	2	325	c.184G>C	c.(184-186)GAT>CAT	p.D62H	CFL2_uc010tpn.1_Missense_Mutation_p.D45H|CFL2_uc001wsh.3_Missense_Mutation_p.D62H|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Intron	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	62	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCTACAGTATCACCAATGTCA	0.398		NaN											0	0	0	0.003954	0	20	28				
C14orf106	55320	broad.mit.edu	37	14	45693269	45693269	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:45693269C>T	uc001wwf.2	-	11	2980	c.2521G>A	c.(2521-2523)GAA>AAA	p.E841K		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	841					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TGAAGAGTTTCTTTGACGGAA	0.358		NaN											0	0	0	0.001168	0	5	12				
L2HGDH	79944	broad.mit.edu	37	14	50735964	50735964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:50735964C>G	uc001wxu.2	-	7	902	c.823G>C	c.(823-825)GAT>CAT	p.D275H	L2HGDH_uc010tqn.1_Missense_Mutation_p.D275H|L2HGDH_uc010tqo.1_Missense_Mutation_p.D275H	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	275					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTCGAGGATCAGGAGTGCAG	0.408		NaN											0	0	0	0.00361	0	52	72				
NID2	22795	broad.mit.edu	37	14	52477650	52477650	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:52477650G>A	uc001wzo.2	-	18	3900	c.3666C>T	c.(3664-3666)GTC>GTT	p.V1222V	NID2_uc010tqs.1_Silent_p.V1174V|NID2_uc010tqt.1_Silent_p.V1222V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1222	LDL-receptor class B 2.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTAGAAGAGGACCTTGCGCT	0.532		NaN											0	0	0	0.002836	0	32	53				
C14orf135	64430	broad.mit.edu	37	14	60585115	60585115	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:60585115G>C	uc001xer.3	+	6	1467	c.945G>C	c.(943-945)TTG>TTC	p.L315F	C14orf135_uc001xeq.2_Missense_Mutation_p.L315F|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	549	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CTGTGCTTTTGACATCATGGA	0.338		NaN											0	0	0	0.000602	0	5	9				
SYNE2	23224	broad.mit.edu	37	14	64545285	64545285	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64545285G>C	uc001xgm.2	+	55	11354	c.11124G>C	c.(11122-11124)CAG>CAC	p.Q3708H	SYNE2_uc001xgl.2_Missense_Mutation_p.Q3708H|SYNE2_uc010apy.2_Missense_Mutation_p.Q70H|SYNE2_uc010apw.1_Missense_Mutation_p.Q414H|SYNE2_uc010apx.1_Missense_Mutation_p.Q100H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3708	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTGCAGCAGAAAAGCAAAA	0.358		NaN											0	0	0	0.00308	0	8	12				
SYNE2	23224	broad.mit.edu	37	14	64680977	64680977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64680977G>C	uc001xgm.2	+	106	19352	c.19122G>C	c.(19120-19122)CAG>CAC	p.Q6374H	SYNE2_uc001xgl.2_Missense_Mutation_p.Q6374H|SYNE2_uc010apy.2_Missense_Mutation_p.Q2759H|SYNE2_uc001xgn.2_Missense_Mutation_p.Q1336H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Q344H|SYNE2_uc001xgq.2_Missense_Mutation_p.Q739H|SYNE2_uc001xgr.2_Missense_Mutation_p.Q157H|SYNE2_uc010tsi.1_Missense_Mutation_p.Q8H|SYNE2_uc001xgs.2_Missense_Mutation_p.Q8H|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6374	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGAAATCCAGACTGATTCTT	0.512		NaN											0	0	0	0.00361	0	43	56				
C14orf4	64207	broad.mit.edu	37	14	77492329	77492329	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77492329G>A	uc001xsy.2	-	1	2706	c.1807C>T	c.(1807-1809)CTG>TTG	p.L603L		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	603	Pro-rich.					nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		TGGGGTCCCAGAGGTgggggc	0.507		NaN											0	0	0	0.009096	0	3	4				
KIAA1737	85457	broad.mit.edu	37	14	77580381	77580381	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77580381C>T	uc001xtd.2	+	4	1099	c.920C>T	c.(919-921)TCA>TTA	p.S307L	KIAA1737_uc001xtc.1_Missense_Mutation_p.S209L	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	307											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GATATCTTTTCAGAGCAGCGG	0.478		NaN											0	0	0	0.010504	0	19	36				
ADCK1	57143	broad.mit.edu	37	14	78397944	78397944	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:78397944C>G	uc001xui.2	+	10	1389	c.1290C>G	c.(1288-1290)CTC>CTG	p.L430L	ADCK1_uc001xuj.2_Silent_p.L362L|ADCK1_uc001xul.2_Silent_p.L137L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	437	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGATGCTGCTCATCTTGAAGA	0.602		NaN											0	0	0	0.003954	0	25	43				
AKT1	207	broad.mit.edu	37	14	105242100	105242100	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105242100G>A	uc001ypk.2	-	5	878	c.324C>T	c.(322-324)GAC>GAT	p.D108D	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.D108D|AKT1_uc010axa.2_Silent_p.D108D|AKT1_uc001ypm.2_Silent_p.D108D|AKT1_uc001ypn.2_Silent_p.D108D|AKT1_uc010tyk.1_Silent_p.D46D	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	108	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		breast|colorectal|ovarian|NSCLC								0	0	0	0.007291	0	21	7				
AHNAK2	113146	broad.mit.edu	37	14	105419487	105419487	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105419487C>T	uc010axc.1	-	7	2421	c.2301G>A	c.(2299-2301)AAG>AAA	p.K767K	AHNAK2_uc001ypx.2_Silent_p.K667K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	767						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGCATCTTCAAACTGG	0.617		NaN											0	0	0	0.00361	0	46	25				
UBE3A	7337	broad.mit.edu	37	15	25615955	25615955	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:25615955C>G	uc001zaq.2	-	4	1375	c.1375G>C	c.(1375-1377)GAA>CAA	p.E459Q	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E436Q|UBE3A_uc001zas.2_Missense_Mutation_p.E456Q|UBE3A_uc001zat.2_Missense_Mutation_p.E436Q	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	459	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTATCCATTTCTAGAACCTCA	0.353		NaN											0	0	0	0.000602	0	5	17				
KLF13	51621	broad.mit.edu	37	15	31619856	31619856	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:31619856C>G	uc001zfo.2	+	1	774	c.441C>G	c.(439-441)CTC>CTG	p.L147L		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	147					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding				0		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		AGCCCGGCCTCAGACAAAGGG	0.642		NaN											0	0	0	0.000602	0	4	6				
RYR3	6263	broad.mit.edu	37	15	34130198	34130198	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:34130198C>A	uc001zhi.2	+	89	12087	c.12017C>A	c.(12016-12018)CCA>CAA	p.P4006Q	RYR3_uc010bar.2_Missense_Mutation_p.P4001Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4006					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACACATGCCAAACGATTCC	0.463		NaN											1	0	2.46799e-47	0.00361	2.70616e-47	78	114				
INO80	54617	broad.mit.edu	37	15	41339643	41339643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41339643C>G	uc001zni.2	-	23	2911	c.2698G>C	c.(2698-2700)GAA>CAA	p.E900Q	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	900	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TTTGCCATTTCTGCTGGAGAT	0.373		NaN											0	0	0	0.003755	0	26	21				
RPAP1	26015	broad.mit.edu	37	15	41816160	41816160	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41816160C>T	uc001zod.2	-	17	2369	c.2245G>A	c.(2245-2247)GAG>AAG	p.E749K	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	749						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGCTGGCCTCAGCAGAATCA	0.587		NaN											0	0	0	0.00308	0	8	14				
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132996	42132996	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:42132996G>C	uc010bco.2	+	4	345	c.244G>C	c.(244-246)GAC>CAC	p.D82H	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	82	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GAAAGTCTTTGACCAGGACCT	0.597		NaN											0	0	0	0.005443	0	26	93				
USP8	9101	broad.mit.edu	37	15	50757369	50757369	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:50757369G>A	uc001zym.3	+	8	1167	c.667G>A	c.(667-669)GAA>AAA	p.E223K	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.E223K|USP8_uc001zyn.3_Missense_Mutation_p.E223K|USP8_uc010ufh.1_Missense_Mutation_p.E146K|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	223	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGTGTTCCTGAAGAAGCCAT	0.378		NaN											0	0	0	0.00632	0	21	63				
LIPC	3990	broad.mit.edu	37	15	58838000	58838000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:58838000G>C	uc010bga.1	+	7	1242	c.634G>C	c.(634-636)GAT>CAT	p.D212H	LIPC_uc010bfz.1_Missense_Mutation_p.D212H|LIPC_uc002afa.1_Missense_Mutation_p.D212H|LIPC_uc010bgb.1_Missense_Mutation_p.D110H|LIPC_uc010ugy.1_Missense_Mutation_p.D151H	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	212					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTTTCTCCAGATGATGCCAA	0.537		NaN											0	0	0	0.00361	0	189	128				
VPS13C	54832	broad.mit.edu	37	15	62212771	62212771	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62212771G>A	uc002agz.2	-	56	7212	c.7138C>T	c.(7138-7140)CAT>TAT	p.H2380Y	VPS13C_uc002aha.2_Missense_Mutation_p.H2337Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H2380Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H2337Y|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2380					protein localization					ovary(2)	2						GAAGAAATATGAATTGCCATT	0.313		NaN											0	0	0	0.012319	0	14	9				
VPS13C	54832	broad.mit.edu	37	15	62254674	62254674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62254674C>A	uc002agz.2	-	34	3573	c.3499G>T	c.(3499-3501)GAG>TAG	p.E1167*	VPS13C_uc002aha.2_Nonsense_Mutation_p.E1124*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1167*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1124*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1167					protein localization					ovary(2)	2						AAATCCCCCTCAGTAGCATCT	0.388		NaN											1	0	1.18608e-55	0.00361	1.30706e-55	121	92				
FBXL22	283807	broad.mit.edu	37	15	63893794	63893794	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:63893794G>A	uc002amn.2	+	2	649	c.635G>A	c.(634-636)AGA>AAA	p.R212K	uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	212											0						CGCACGGGCAGAAGGAGCCAC	0.716		NaN											0	0	0	0.006214	0	8	3				
SMAD3	4088	broad.mit.edu	37	15	67477081	67477081	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:67477081C>G	uc002aqj.2	+	7	1186	c.888C>G	c.(886-888)CTC>CTG	p.L296L	SMAD3_uc010ujr.1_Silent_p.L191L|SMAD3_uc010ujs.1_Silent_p.L252L|SMAD3_uc010ujt.1_Silent_p.L101L	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	296	Sufficient for interaction with XPO4.|MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCGTGCGGCTCTACTACATCG	0.587		NaN											0	0	0	0.008361	0	24	87				
C15orf59	388135	broad.mit.edu	37	15	74032703	74032703	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:74032703G>A	uc002avy.2	-	2	782	c.437C>T	c.(436-438)ACG>ATG	p.T146M		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	146										pancreas(1)	1						GGGGATGGGCGTGCCACCATT	0.667		NaN											0	0	0	0.004656	0	19	64				
CSK	1445	broad.mit.edu	37	15	75092810	75092810	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75092810G>C	uc010bkb.1	+	7	703	c.520G>C	c.(520-522)GAG>CAG	p.E174Q	CSK_uc002ays.2_Missense_Mutation_p.E174Q|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	174					blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						AAAGGTCATGGAGGGCACAGT	0.622		NaN									OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007413	0	14	35				
GOLGA6D	653643	broad.mit.edu	37	15	75580671	75580671	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75580671G>C	uc010uma.1	+	7	565	c.530G>C	c.(529-531)TGT>TCT	p.C177S	uc010umb.1_5'Flank	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	golgi autoantigen, golgin subfamily a, 6D	177	Potential.										0						CGGGCTCTCTGTGCTGTGTCT	0.557		NaN											0	0	0	0.010729	0	6	110				
IMP3	55272	broad.mit.edu	37	15	75932413	75932413	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75932413C>T	uc002bat.2	-	2	1041	c.97G>A	c.(97-99)GTG>ATG	p.V33M	IMP3_uc010bkl.1_Missense_Mutation_p.V33M	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	33	Arg-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding				0						CGCCGCAGCACGCGCAGCTCG	0.657		NaN											0	0	0	0.010729	0	8	21				
MESDC2	23184	broad.mit.edu	37	15	81282044	81282044	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:81282044C>A	uc002bfy.1	-	1	162	c.89G>T	c.(88-90)GGG>GTG	p.G30V	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	30	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						CGCGCAGGACCCAGGCGGTGG	0.567		NaN											1	0	3.5997e-14	0.002299	3.80161e-14	21	44				
SEMA4B	10509	broad.mit.edu	37	15	90764303	90764303	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:90764303C>G	uc002boy.2	+	6	856	c.573C>G	c.(571-573)TTC>TTG	p.F191L	SEMA4B_uc002boz.2_Missense_Mutation_p.F191L|SEMA4B_uc010uqd.1_Missense_Mutation_p.F29L|SEMA4B_uc002bpa.2_Missense_Mutation_p.F29L|SEMA4B_uc010bnv.1_5'Flank	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACCCGAATTTCAAGTCCACTG	0.572		NaN									OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	11	5				
FURIN	5045	broad.mit.edu	37	15	91423349	91423349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:91423349C>T	uc002bpu.1	+	13	1618	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	468					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTCGAGGTGCGGAAGACCGT	0.667		NaN											0	0	0	0.001855	0	10	40				
OR4F15	390649	broad.mit.edu	37	15	102358647	102358647	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:102358647C>G	uc010uts.1	+	1	258	c.258C>G	c.(256-258)TTC>TTG	p.F86L		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGATATTTTCAAGAAGCACA	0.463		NaN											0	0	0	0.010504	0	22	84				
RAB40C	57799	broad.mit.edu	37	16	677451	677451	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:677451C>T	uc002chr.2	+	6	791	c.675C>T	c.(673-675)TTC>TTT	p.F225F	RAB40C_uc002chq.2_Silent_p.F206F|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	225	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TCAAGTCCTTCTCGATGGCCA	0.652		NaN											0	0	0	0.00361	0	54	172				
CASKIN1	57524	broad.mit.edu	37	16	2237255	2237255	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:2237255C>A	uc010bsg.1	-	8	779	c.747G>T	c.(745-747)GTG>GTT	p.V249V		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	249	ANK 6.				signal transduction	cytoplasm				skin(2)	2						AGGTGTTCCTCACGTGGGCAT	0.632		NaN											1	0	6.00712e-18	0.012213	6.46845e-18	27	73				
THOC6	79228	broad.mit.edu	37	16	3076366	3076366	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:3076366G>C	uc002ctb.2	+	6	659	c.363G>C	c.(361-363)AGG>AGC	p.R121S	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R121S|THOC6_uc002ctc.2_Missense_Mutation_p.R97S|THOC6_uc002cta.2_Missense_Mutation_p.R97S	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	121				R -> S (in Ref. 1; BAG36782).	intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CCTTCCCCAGGACCAGCCTGG	0.572		NaN											0	0	0	0.007413	0	15	40				
DNAH3	55567	broad.mit.edu	37	16	21128567	21128567	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:21128567G>C	uc010vbe.1	-	12	1771	c.1771C>G	c.(1771-1773)CAA>GAA	p.Q591E	DNAH3_uc002die.2_Missense_Mutation_p.Q531E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	591	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGAAAGTTTGAATCAAAAAA	0.363		NaN											0	0	0	0.000602	0	4	58				
ERN2	10595	broad.mit.edu	37	16	23724503	23724503	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:23724503C>T	uc002dma.3	-	1	319	c.150G>A	c.(148-150)GCG>GCA	p.A50A	ERN2_uc010bxp.2_Silent_p.A50A|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	2					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGACCGCACTCGCCATAGCGC	0.736		NaN											0	0	0	0.004482	0	7	5				
XPO6	23214	broad.mit.edu	37	16	28145186	28145186	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:28145186C>T	uc002dpa.1	-	11	2013	c.1512G>A	c.(1510-1512)CTG>CTA	p.L504L	XPO6_uc002dpb.1_Silent_p.L490L|XPO6_uc010vcp.1_Silent_p.L504L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	504					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CGTGCGTGGGCAGGAGCTCCA	0.587		NaN											0	0	0	0.00361	0	72	48				
RNF40	9810	broad.mit.edu	37	16	30775620	30775620	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30775620C>G	uc002dzq.2	+	5	686	c.563C>G	c.(562-564)TCC>TGC	p.S188C	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.S188C|RNF40_uc010cab.2_Missense_Mutation_p.S188C|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.S188C|RNF40_uc010vfb.1_Intron	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	188					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			ATGGAGTTCTCCAAGGCAGCT	0.627		NaN											0	0	0	0.007413	0	14	57				
RNF40	9810	broad.mit.edu	37	16	30776275	30776275	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30776275C>G	uc002dzq.2	+	6	789	c.666C>G	c.(664-666)CTC>CTG	p.L222L	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.L222L|RNF40_uc010cab.2_Silent_p.L222L|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L222L|RNF40_uc010vfb.1_Intron	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	222	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GTGAGCCCCTCAGTGAGGCGG	0.602		NaN											0	0	0	0.010504	0	16	81				
LONP2	83752	broad.mit.edu	37	16	48286132	48286132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:48286132C>G	uc002efi.1	+	2	413	c.324C>G	c.(322-324)TTC>TTG	p.F108L	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.F108L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	108	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						TATGCCGTTTCCAGATTGTAC	0.502		NaN											0	0	0	0.008871	0	17	16				
IRX6	79190	broad.mit.edu	37	16	55363210	55363210	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:55363210G>C	uc002ehy.2	+	5	1853	c.1320G>C	c.(1318-1320)CCG>CCC	p.P440P	IRX6_uc002ehx.2_Silent_p.P440P	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	440						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GCCAGTACCCGTCTGGAGCAG	0.627		NaN											0	0	0	0.009096	0	3	51				
CCDC135	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:57731954G>A	uc002emi.2	+	2	182	c.93G>A	c.(91-93)ATG>ATA	p.M31I	CCDC135_uc002emj.2_Missense_Mutation_p.M31I|CCDC135_uc002emk.2_Missense_Mutation_p.M31I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	31	Potential.					cytoplasm				central_nervous_system(1)	1						TGGAGAAAATGATGAGGCCAG	0.438		NaN											0	0	0	0.008291	0	10	13				
CDH5	1003	broad.mit.edu	37	16	66423281	66423281	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66423281A>C	uc002eom.3	+	5	793	c.637A>C	c.(637-639)AAA>CAA	p.K213Q	CDH5_uc002eon.1_Missense_Mutation_p.K213Q	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	213	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACAATAACGAAAAGCTTGGA	0.443		NaN											0	0	0	0.006122	0	14	32				
CDH5	1003	broad.mit.edu	37	16	66431938	66431938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66431938G>A	uc002eom.3	+	9	1570	c.1414G>A	c.(1414-1416)GAG>AAG	p.E472K		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	472	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGTTTTGGATGAGAATGACAA	0.542		NaN											0	0	0	0.00361	0	72	96				
SLC7A6	9057	broad.mit.edu	37	16	68325477	68325477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68325477C>T	uc002evt.1	+	8	1244	c.935C>T	c.(934-936)ACG>ATG	p.T312M	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.T312M|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	312	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGACCAGACGTTTGGCATG	0.502		NaN											0	0	0	0.00361	0	67	79				
PRMT7	54496	broad.mit.edu	37	16	68389659	68389659	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68389659G>C	uc002evy.1	+	17	1960	c.1684G>C	c.(1684-1686)GAG>CAG	p.E562Q	PRMT7_uc010vlg.1_Missense_Mutation_p.E512Q|PRMT7_uc002evz.1_Missense_Mutation_p.E334Q|PRMT7_uc010cfd.1_Missense_Mutation_p.E54Q	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	562					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGGAAGCTGAGCCCCACCC	0.677		NaN											0	0	0	0.006214	0	10	8				
COG8	84342	broad.mit.edu	37	16	69368866	69368866	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69368866G>C	uc002ewy.2	-	3	1042	c.971C>G	c.(970-972)TCA>TGA	p.S324*	COG8_uc002ewz.3_Nonsense_Mutation_p.S324*	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	324					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						CAGGAATTGTGAGACCTTCTG	0.592		NaN											0	0	0	0.005443	0	25	59				
COG8	84342	broad.mit.edu	37	16	69370435	69370435	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69370435C>T	uc002ewy.2	-	2	629	c.558G>A	c.(556-558)AGG>AGA	p.R186R	COG8_uc002ewz.3_Silent_p.R186R	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	186					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						AAGAGTATTTCCTCTCCAGTC	0.488		NaN											0	0	0	0.001368	0	9	36				
COG8	84342	broad.mit.edu	37	16	69373450	69373450	+	Silent	SNP	C	C	T	rs142062440		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69373450C>T	uc002ewy.2	-	1	77	c.6G>A	c.(4-6)GCG>GCA	p.A2A	COG8_uc002ewz.3_Silent_p.A2A|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	2					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						TCGCCGCGGTCGCCATCTTCC	0.622		NaN									OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008871	0	17	25				
BANP	54971	broad.mit.edu	37	16	88017774	88017774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:88017774C>G	uc002fkr.2	+	4	468	c.244C>G	c.(244-246)CTG>GTG	p.L82V	BANP_uc002fkp.2_Missense_Mutation_p.L91V|BANP_uc002fkq.2_Missense_Mutation_p.L91V|BANP_uc010vow.1_Missense_Mutation_p.L90V|BANP_uc002fks.3_Missense_Mutation_p.L90V|BANP_uc002fko.1_Translation_Start_Site|BANP_uc010vov.1_Missense_Mutation_p.L96V	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	83	Potential.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AAAGCTGGATCTGGTCACGAA	0.527		NaN											0	0	0	0.000602	0	4	5				
ANKRD11	29123	broad.mit.edu	37	16	89352493	89352493	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89352493G>A	uc002fmx.1	-	8	1307	c.846C>T	c.(844-846)CTC>CTT	p.L282L	ANKRD11_uc002fmy.1_Silent_p.L282L|ANKRD11_uc002fnc.1_Silent_p.L282L|ANKRD11_uc002fnb.1_Silent_p.L239L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	282	ANK 4.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCCTAACAGGAGGTTCACCA	0.587		NaN											0	0	0	0.00361	0	68	74				
SMYD4	114826	broad.mit.edu	37	17	1690794	1690794	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:1690794C>G	uc002ftm.3	-	6	1810	c.1642G>C	c.(1642-1644)GTG>CTG	p.V548L	SMYD4_uc002ftn.1_Missense_Mutation_p.V403L	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	548	SET.						zinc ion binding			skin(3)|kidney(2)	5						ATGAAGGACACGCTGGTGTTG	0.577		NaN											0	0	0	0.004672	0	3	18				
CAMTA2	23125	broad.mit.edu	37	17	4876991	4876991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4876991C>T	uc002gah.1	-	13	2198	c.2090G>A	c.(2089-2091)TGG>TAG	p.W697*	CAMTA2_uc010cku.1_Nonsense_Mutation_p.W720*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.W696*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.W699*|CAMTA2_uc010ckv.1_Nonsense_Mutation_p.W344*	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	697					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AGGACCCTTCCAGGTGGAGCG	0.612		NaN											0	0	0	0.012319	0	17	103				
GPR172B	55065	broad.mit.edu	37	17	4937171	4937171	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4937171C>G	uc002gap.3	-	3	1326	c.613G>C	c.(613-615)GTC>CTC	p.V205L	GPR172B_uc002gao.3_Missense_Mutation_p.V205L|GPR172B_uc010ckw.2_Missense_Mutation_p.V83L|GPR172B_uc010ckx.2_Missense_Mutation_p.V205L	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	205	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0						GCTGAAGTGACCAGAAGGGCA	0.622		NaN											0	0	0	0.004878	0	30	189				
C17orf74	201243	broad.mit.edu	37	17	7330189	7330189	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7330189C>T	uc002ggw.2	+	3	952	c.879C>T	c.(877-879)GTC>GTT	p.V293V	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	293						integral to membrane					0		Prostate(122;0.157)				CCTCTTGGGTCCCCGTGGGGC	0.677		NaN											0	0	0	0.008871	0	18	102				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7578275G>A	uc002gim.2	-	6	768	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	192	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	87	8		Valid		
DNAH2	146754	broad.mit.edu	37	17	7696168	7696168	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7696168G>A	uc002giu.1	+	46	7353	c.7339G>A	c.(7339-7341)GCA>ACA	p.A2447T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2447	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAACATGTCCGCACAGGTGTG	0.647		NaN											0	0	0	0.000602	0	4	167				
PER1	5187	broad.mit.edu	37	17	8045717	8045717	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8045717C>T	uc002gkd.2	-	21	3557	c.3319G>A	c.(3319-3321)GAG>AAG	p.E1107K	PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1107					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						gccccagcctcagcctcggAA	0.443		NaN	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					0	0	0	0.012213	0	30	1				
PER1	5187	broad.mit.edu	37	17	8048196	8048196	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8048196C>G	uc002gkd.2	-	18	2572	c.2334G>C	c.(2332-2334)CTG>CTC	p.L778L	PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.L762L	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	778	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CGGCCTTGGTCAGCCCCACTG	0.433		NaN	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					0	0	0	0.008871	0	19	2				
RCVRN	5957	broad.mit.edu	37	17	9808346	9808346	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:9808346C>T	uc002gme.1	-	1	339	c.152G>A	c.(151-153)AGC>AAC	p.S51N		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	51	EF-hand 1.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						GGCGTAGATGCTCTGGAACTG	0.602		NaN											0	0	0	0.001984	0	6	12				
SUPT6H	6830	broad.mit.edu	37	17	27011877	27011877	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:27011877C>G	uc002hby.2	+	19	2475	c.2385C>G	c.(2383-2385)TTC>TTG	p.F795L	SUPT6H_uc010crt.2_Missense_Mutation_p.F795L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	795					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ACCCTGTGTTCTGCGCCCTGG	0.443		NaN											0	0	0	0.00361	0	93	42				
ZNF207	7756	broad.mit.edu	37	17	30678846	30678846	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:30678846A>G	uc002hhh.3	+	2	231	c.83A>G	c.(82-84)CAG>CGG	p.Q28R	ZNF207_uc002hhj.3_Missense_Mutation_p.Q28R|ZNF207_uc002hhi.3_Missense_Mutation_p.Q28R|ZNF207_uc010csz.2_Missense_Mutation_p.Q31R|ZNF207_uc002hhk.1_Missense_Mutation_p.Q28R	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	28	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCCTTATTCAGCACCAAAAA	0.343		NaN											0	0	0	0.007835	0	38	47				
GGNBP2	79893	broad.mit.edu	37	17	34937963	34937963	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:34937963G>A	uc002hnb.2	+	9	1459	c.1210G>A	c.(1210-1212)GAG>AAG	p.E404K	GGNBP2_uc002hna.2_Missense_Mutation_p.E404K|GGNBP2_uc002hnc.1_Missense_Mutation_p.E233K	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	404					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTAAGCCAAGAGAAGGTAAT	0.279		NaN											0	0	0	0.004656	0	22	35				
MLLT6	4302	broad.mit.edu	37	17	36875796	36875796	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:36875796C>T	uc002hqi.3	+	13	1982	c.1969C>T	c.(1969-1971)CGG>TGG	p.R657W	MLLT6_uc002hqj.2_Missense_Mutation_p.R92W|MLLT6_uc002hqk.3_5'UTR	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	657					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CTGCAGCTTCCGGTGTCGGGG	0.657		NaN	T	MLL	AL								0	0	0	0.010504	0	16	35				
TCAP	8557	broad.mit.edu	37	17	37822334	37822334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:37822334C>T	uc002hsh.2	+	2	490	c.476C>T	c.(475-477)TCC>TTC	p.S159F	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	telethonin	159					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding				0	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGTCCCGCTCCATGTCCCAG	0.657		NaN											0	0	0	0.00361	0	129	166				
GSDMA	284110	broad.mit.edu	37	17	38130640	38130640	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:38130640T>G	uc002htl.1	+	9	984	c.866T>G	c.(865-867)CTT>CGT	p.L289R	GSDMA_uc002htm.1_Missense_Mutation_p.L289R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	289					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CTCAGCAAACTTCTAGGGAAG	0.512		NaN											0	0	0	0.004672	0	3	20				
KLHL10	317719	broad.mit.edu	37	17	40004197	40004197	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:40004197G>C	uc010cxr.2	+	5	1607	c.1465G>C	c.(1465-1467)GAT>CAT	p.D489H	KLHL10_uc010wfw.1_Missense_Mutation_p.D401H	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	489	Kelch 5.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				AGGTGGCTTTGATGGAGCTAA	0.483		NaN											0	0	0	0.00361	0	86	113				
EFCAB3	146779	broad.mit.edu	37	17	60493508	60493508	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:60493508A>G	uc002izu.1	+	10	1213	c.1135A>G	c.(1135-1137)ACA>GCA	p.T379A	EFCAB3_uc010wpc.1_Missense_Mutation_p.T431A	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	379							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTCTACTTATACATGGTCCTG	0.408		NaN											0	0	0	0.00361	0	46	54				
TACO1	51204	broad.mit.edu	37	17	61678640	61678640	+	Silent	SNP	C	C	T	rs141350830		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:61678640C>T	uc002jbd.2	+	1	398	c.198C>T	c.(196-198)GTC>GTT	p.V66V		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	66					regulation of translation	mitochondrion					0						GGTCCAAAGTCAGGCACATCA	0.637		NaN											0	0	0	0.00632	0	25	36				
SMURF2	64750	broad.mit.edu	37	17	62543775	62543775	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:62543775G>C	uc002jep.1	-	17	2402	c.2014C>G	c.(2014-2016)CTT>GTT	p.L672V	SMURF2_uc002jeq.1_Missense_Mutation_p.L431V|SMURF2_uc002jer.1_Missense_Mutation_p.L431V	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	672	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACAAACTGAAGCAATCTTGCT	0.517		NaN											0	0	0	0.00361	0	101	106				
FAM20A	54757	broad.mit.edu	37	17	66535515	66535515	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:66535515C>T	uc002jho.2	-	10	1612	c.1324G>A	c.(1324-1326)GAA>AAA	p.E442K	FAM20A_uc010wqp.1_Missense_Mutation_p.E304K|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.E153K	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	442						extracellular region					0	Breast(10;1.64e-13)					ATGGAGATTTCATCATGGGAG	0.527		NaN											0	0	0	0.00361	0	36	159				
SDK2	54549	broad.mit.edu	37	17	71391400	71391400	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:71391400G>A	uc010dfm.2	-	25	3486	c.3486C>T	c.(3484-3486)ATC>ATT	p.I1162I	SDK2_uc002jjt.3_Silent_p.I321I|SDK2_uc010dfn.2_Silent_p.I841I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1162	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion	integral to membrane				ovary(2)	2						CCAGGTCCTCGATGGTGTAGT	0.652		NaN											0	0	0	0.010729	0	11	59				
FDXR	2232	broad.mit.edu	37	17	72860373	72860373	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:72860373G>A	uc002jly.2	-	9	986	c.899C>T	c.(898-900)TCC>TTC	p.S300F	FDXR_uc010wri.1_Missense_Mutation_p.S248F|FDXR_uc010wrj.1_Missense_Mutation_p.S298F|FDXR_uc002jlw.2_Missense_Mutation_p.S57F|FDXR_uc002jlx.2_Missense_Mutation_p.S306F|FDXR_uc002jmc.2_Missense_Mutation_p.S272F|FDXR_uc010wrk.1_Missense_Mutation_p.S331F|FDXR_uc010wrl.1_Missense_Mutation_p.S343F|FDXR_uc002jma.2_Missense_Mutation_p.S301F|FDXR_uc010wrm.1_Missense_Mutation_p.S260F|FDXR_uc002jlz.2_Missense_Mutation_p.S292F|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	300					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					CCAGGCACGGGAGGCCGATGC	0.692		NaN											0	0	0	0.00623	0	35	41				
CDK3	1018	broad.mit.edu	37	17	73998377	73998377	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:73998377C>T	uc010dgt.2	+	5	440	c.364C>T	c.(364-366)CGG>TGG	p.R122W	CDK3_uc002jqg.3_Missense_Mutation_p.R150W	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	122	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCACTCACATCGGGTCATCCA	0.627		NaN											0	0	0	0.00361	0	77	82				
UBE2O	63893	broad.mit.edu	37	17	74396299	74396299	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:74396299C>T	uc002jrm.3	-	8	1149	c.1084G>A	c.(1084-1086)GAG>AAG	p.E362K	UBE2O_uc002jrn.3_Missense_Mutation_p.E362K|UBE2O_uc002jrl.3_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	362							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						TTGGCTGGCTCTACCTTGGCT	0.582		NaN											0	0	0	0.00361	0	53	84				
NPTX1	4884	broad.mit.edu	37	17	78449360	78449360	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:78449360G>T	uc002jyp.1	-	2	761	c.603C>A	c.(601-603)ATC>ATA	p.I201I		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	201					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGGCGGTCTCGATCTTGACCC	0.667		NaN											1	0	1.90571e-15	0.004289	2.01907e-15	32	53				
TMEM105	284186	broad.mit.edu	37	17	79287597	79287597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:79287597G>A	uc002kad.1	-	3	794	c.244C>T	c.(244-246)CGA>TGA	p.R82*		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	82						integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCATGTCTTCGCCTTCTTATC	0.662		NaN											0	0	0	0.00361	0	133	116				
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:13092445C>T	uc010xac.1	+	34	6253	c.6173C>T	c.(6172-6174)TCA>TTA	p.S2058L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2058										ovary(4)|pancreas(1)	5						ATTATACTTTCAGTAATTGGA	0.333		NaN											0	0	0	0.010729	0	12	49				
ROCK1	6093	broad.mit.edu	37	18	18625257	18625257	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:18625257G>A	uc002kte.2	-	5	1527	c.586C>T	c.(586-588)CAC>TAC	p.H196Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	196	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					CTTTACCTGTGAATAAAACCC	0.343		NaN											0	0	0	0.00308	0	6	31				
ZNF521	25925	broad.mit.edu	37	18	22806745	22806745	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:22806745C>T	uc002kvk.2	-	4	1384	c.1137G>A	c.(1135-1137)AAG>AAA	p.K379K	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.K379K|ZNF521_uc002kvl.2_Silent_p.K159K	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	379					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCCTCGACTCTTTGGGATTG	0.532		NaN	T	PAX5	ALL								0	0	0	0.007291	0	20	77				
SS18	6760	broad.mit.edu	37	18	23612474	23612474	+	Silent	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:23612474A>T	uc002kvm.2	-	10	1197	c.1119T>A	c.(1117-1119)GGT>GGA	p.G373G	SS18_uc002kvn.2_Silent_p.G342G|SS18_uc010xbf.1_Silent_p.G291G|SS18_uc010xbg.1_Silent_p.G290G|SS18_uc010xbh.1_Silent_p.G290G|SS18_uc010xbi.1_Silent_p.G350G	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	373	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GATACTGAGGACCTGGACCAC	0.493		NaN	T	SSX1| SSX2	synovial sarcoma								0	0	0	0.003954	0	22	57				
GALNT1	2589	broad.mit.edu	37	18	33243615	33243615	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:33243615C>T	uc010dmu.2	+	3	216	c.163C>T	c.(163-165)CAT>TAT	p.H55Y	GALNT1_uc002kyz.3_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.H55Y|GALNT1_uc002kzb.2_Missense_Mutation_p.H55Y	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	55	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						ACAAAAGCCTCATGAAGGTCC	0.328		NaN											0	0	0	0.003163	0	12	13				
KIAA0427	9811	broad.mit.edu	37	18	46287980	46287980	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:46287980G>A	uc002ldc.2	+	9	1576	c.1291G>A	c.(1291-1293)GCT>ACT	p.A431T	KIAA0427_uc002ldd.2_Missense_Mutation_p.A433T|KIAA0427_uc002lde.3_Missense_Mutation_p.A60T	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	431	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CGCCTTCACCGCTGCCAAGCT	0.617		NaN											0	0	0	0.007835	0	35	100				
LIPG	9388	broad.mit.edu	37	18	47101864	47101864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47101864C>T	uc002ldv.2	+	5	949	c.697C>T	c.(697-699)CAG>TAG	p.Q233*	LIPG_uc002ldu.1_Nonsense_Mutation_p.Q233*|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	233					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						CATTGGTATTCAGATGCCTGT	0.532		NaN											0	0	0	0.007835	0	37	51				
CCDC11	220136	broad.mit.edu	37	18	47777950	47777950	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47777950C>G	uc002lee.2	-	4	769	c.678G>C	c.(676-678)CTG>CTC	p.L226L		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	226	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGTTCTCCATCAGCTCTTTCT	0.552		NaN											0	0	0	0.00623	0	36	63				
SOCS6	9306	broad.mit.edu	37	18	67992252	67992252	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:67992252G>A	uc002lkr.1	+	2	664	c.348G>A	c.(346-348)GTG>GTA	p.V116V	SOCS6_uc010dqq.2_Silent_p.V116V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	116					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTAAAGACGTGAGAGCTCAGA	0.597		NaN											0	0	0	0.010504	0	19	54				
SHC2	25759	broad.mit.edu	37	19	418997	418997	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:418997C>G	uc002loq.3	-	12	1680	c.1680G>C	c.(1678-1680)CAG>CAC	p.Q560H	SHC2_uc002lop.3_Missense_Mutation_p.Q301H	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	560	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCGTTCTGCAGGTGGT	0.677		NaN											0	0	0	0.001168	0	6	7				
POLRMT	5442	broad.mit.edu	37	19	619263	619263	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:619263G>A	uc002lpf.1	-	14	3156	c.3100C>T	c.(3100-3102)CGC>TGC	p.R1034C		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1034	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTGGCGTACGAGATAG	0.637		NaN											0	0	0	0.000602	0	4	114				
CNN2	1265	broad.mit.edu	37	19	1037770	1037770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1037770G>C	uc002lqu.2	+	7	1164	c.801G>C	c.(799-801)CAG>CAC	p.Q267H	ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Missense_Mutation_p.Q228H|CNN2_uc010xgb.1_Missense_Mutation_p.Q256H|CNN2_uc010xgc.1_Missense_Mutation_p.Q288H|ABCA7_uc010dsa.2_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	267	Calponin-like 3.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGGCAGATATATGACC	0.662		NaN											0	0	0	0.00361	0	41	69				
MUM1	84939	broad.mit.edu	37	19	1360523	1360523	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1360523G>C	uc010xgm.1	+	4	672	c.603G>C	c.(601-603)GAG>GAC	p.E201D	MUM1_uc010dsi.2_Missense_Mutation_p.E133D|MUM1_uc002lrz.2_Missense_Mutation_p.E202D|MUM1_uc002lsb.2_Missense_Mutation_p.E133D|MUM1_uc002lsc.1_Missense_Mutation_p.E133D			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	201					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAGATGAGAGTGGGTCCA	0.537		NaN									OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	9	15				
LRRC8E	80131	broad.mit.edu	37	19	7964521	7964521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7964521C>T	uc002mir.2	+	3	1215	c.1114C>T	c.(1114-1116)CAG>TAG	p.Q372*		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	372						integral to membrane				lung(1)|pancreas(1)	2						CCTCATCGATCAGTACGACTC	0.572		NaN											0	0	0	0.010504	0	17	49				
TIMM44	10469	broad.mit.edu	37	19	7992542	7992542	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7992542C>T	uc002miz.2	-	12	1241	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	TIMM44_uc002mja.2_Silent_p.P153P|CTXN1_uc002miy.3_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	413					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CCTCACTCACCGGGTCACCCT	0.627		NaN											0	0	0	0.00361	0	106	88				
DNM2	1785	broad.mit.edu	37	19	10934516	10934516	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934516G>A	uc002mps.1	+	17	1998	c.1834G>A	c.(1834-1836)GAC>AAC	p.D612N	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.D612N|DNM2_uc002mpv.1_Missense_Mutation_p.D608N|DNM2_uc002mpu.1_Missense_Mutation_p.D608N|DNM2_uc010dxl.1_Missense_Mutation_p.D612N|DNM2_uc002mpw.2_Missense_Mutation_p.D341N|DNM2_uc002mpx.1_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	612	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCCAGGAAGACGTGGACAG	0.667		NaN											0	0	0	0.00361	0	39	52				
DNM2	1785	broad.mit.edu	37	19	10934530	10934530	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934530G>C	uc002mps.1	+	17	2012	c.1848G>C	c.(1846-1848)TGG>TGC	p.W616C	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.W616C|DNM2_uc002mpv.1_Missense_Mutation_p.W612C|DNM2_uc002mpu.1_Missense_Mutation_p.W612C|DNM2_uc010dxl.1_Missense_Mutation_p.W616C|DNM2_uc002mpw.2_Missense_Mutation_p.W345C|DNM2_uc002mpx.1_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	616	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGACAGCTGGAAGGCCTCGT	0.657		NaN											0	0	0	0.00361	0	30	49				
ZNF442	79973	broad.mit.edu	37	19	12474396	12474396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12474396G>C	uc002mtr.1	-	3	661	c.50C>G	c.(49-51)TCT>TGT	p.S17C	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						ATTAGTCTGAGAGTCAGGAAG	0.488		NaN											0	0	0	0.004482	0	8	140				
MAN2B1	4125	broad.mit.edu	37	19	12767436	12767436	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12767436G>A	uc002mub.2	-	13	1669	c.1593C>T	c.(1591-1593)AGC>AGT	p.S531S	MAN2B1_uc010dyv.1_Silent_p.S530S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	531					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						AAACGCCTTCGCTGACCGGCA	0.602		NaN											0	0	0	0.00361	0	106	68				
CASP14	23581	broad.mit.edu	37	19	15164702	15164702	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:15164702G>T	uc010dzv.1	+	4	644	c.336G>T	c.(334-336)CTG>CTT	p.L112L	CASP14_uc002naf.2_Silent_p.L112L	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	112					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						TCGAGGCCCTGAACAACAAGA	0.562		NaN											1	0	3.11337e-16	0.002836	3.31456e-16	29	48				
CHERP	10523	broad.mit.edu	37	19	16652774	16652774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16652774C>G	uc002nei.1	-	2	180	c.106G>C	c.(106-108)GAG>CAG	p.E36Q	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.E4Q	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	36	SURP motif.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TTCTGCTTCTCCATAGTCATC	0.532		NaN											0	0	0	0.00278	0	21	40				
CHERP	10523	broad.mit.edu	37	19	16653168	16653168	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16653168C>G	uc002nei.1	-	1	96	c.22G>C	c.(22-24)GAT>CAT	p.D8H	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	8					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GTCTCACCATCGGGGGGCAGC	0.726		NaN											0	0	0	0.004482	0	3	14				
MAP1S	55201	broad.mit.edu	37	19	17831750	17831750	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:17831750C>T	uc002nhe.1	+	2	133	c.124C>T	c.(124-126)CGG>TGG	p.R42W	MAP1S_uc010eaz.1_Intron|MAP1S_uc010eba.1_Missense_Mutation_p.R42W|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R16W	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	42	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						ACCAGGCATCCGGTCTTGGGA	0.582		NaN											0	0	0	0.010729	0	8	128				
ZNF253	56242	broad.mit.edu	37	19	19990934	19990934	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:19990934G>A	uc002noj.2	+	3	297	c.205G>A	c.(205-207)GAG>AAG	p.E69K	ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	69	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAAAGACATGAGATGATTGC	0.373		NaN											0	0	0	0.001984	0	7	33				
ZNF253	56242	broad.mit.edu	37	19	19990939	19990939	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:19990939G>A	uc002noj.2	+	3	302	c.210G>A	c.(208-210)ATG>ATA	p.M70I	ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	70	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GACATGAGATGATTGCCAAAC	0.373		NaN											0	0	0	0.001168	0	6	33				
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21606279C>T	uc002npx.2	+	2	714	c.434C>T	c.(433-435)TCT>TTT	p.S145F	ZNF493_uc002npw.2_Missense_Mutation_p.S273F|ZNF493_uc002npy.2_Missense_Mutation_p.S145F	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	145	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGGCACATCTTTCTACCAA	0.348		NaN											0	0	0	0.00499	0	16	3				
ZNF493	284443	broad.mit.edu	37	19	21607244	21607244	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607244C>T	uc002npx.2	+	2	1679	c.1399C>T	c.(1399-1401)CAT>TAT	p.H467Y	ZNF493_uc002npw.2_Missense_Mutation_p.H595Y|ZNF493_uc002npy.2_Missense_Mutation_p.H467Y	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	467	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAAGATAATTCATACTGATAA	0.333		NaN											0	0	0	0.00308	0	7	1				
ZNF493	284443	broad.mit.edu	37	19	21607722	21607722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607722C>T	uc002npx.2	+	2	2157	c.1877C>T	c.(1876-1878)TCA>TTA	p.S626L	ZNF493_uc002npw.2_Missense_Mutation_p.S754L|ZNF493_uc002npy.2_Missense_Mutation_p.S626L	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	626	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGGCGGTCTTCACATCTTAGT	0.373		NaN											0	0	0	0.004482	0	9	4				
ZNF493	284443	broad.mit.edu	37	19	21607760	21607760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607760C>T	uc002npx.2	+	2	2195	c.1915C>T	c.(1915-1917)CAT>TAT	p.H639Y	ZNF493_uc002npw.2_Missense_Mutation_p.H767Y|ZNF493_uc002npy.2_Missense_Mutation_p.H639Y	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TATTGGAATTCATACTGAAGA	0.378		NaN											0	0	0	0.00245	0	12	6				
ZNF91	7644	broad.mit.edu	37	19	23544994	23544994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:23544994C>G	uc002nre.2	-	4	900	c.787G>C	c.(787-789)GAG>CAG	p.E263Q	ZNF91_uc010xrj.1_Missense_Mutation_p.E231Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGATTTTCTCTTTAGCACAG	0.378		NaN											0	0	0	0.002836	0	29	42				
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:30934886C>T	uc002nsu.1	+	2	555	c.417C>T	c.(415-417)TTC>TTT	p.F139F	ZNF536_uc010edd.1_Silent_p.F139F	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	139	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637		NaN											0	0	0	0.00361	0	207	50				
GPI	2821	broad.mit.edu	37	19	34884965	34884965	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:34884965C>T	uc002nvg.1	+	12	1159	c.1056C>T	c.(1054-1056)TTC>TTT	p.F352F	GPI_uc002nvf.2_Silent_p.F391F|GPI_uc010xrv.1_Silent_p.F363F|GPI_uc010xrw.1_Silent_p.F324F|GPI_uc010edl.1_Silent_p.F352F|GPI_uc002nvi.1_Silent_p.F15F	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	352					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					CTGCGTACTTCCAGCAGGTAC	0.577		NaN											0	0	0	0.00361	0	42	50				
ZNF585B	92285	broad.mit.edu	37	19	37676214	37676214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:37676214C>G	uc002ofq.2	-	5	2479	c.2225G>C	c.(2224-2226)GGA>GCA	p.G742A	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.G556A	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTGTCTCCAGTGTGTGT	0.478		NaN											0	0	0	0.001368	0	10	203				
SIPA1L3	23094	broad.mit.edu	37	19	38633219	38633219	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:38633219C>T	uc002ohk.2	+	12	3911	c.3402C>T	c.(3400-3402)GTC>GTT	p.V1134V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1134					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTAGGCCTGTCAGCTTCCCAG	0.542		NaN									OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	337	316				
RYR1	6261	broad.mit.edu	37	19	39055650	39055650	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39055650G>A	uc002oit.2	+	91	12806	c.12676G>A	c.(12676-12678)GAG>AAG	p.E4226K	RYR1_uc002oiu.2_Missense_Mutation_p.E4221K|RYR1_uc002oiv.1_Missense_Mutation_p.E1135K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4226					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGAGGGCGGCGAGGCTGAGAA	0.642		NaN											0	0	0	0.003163	0	11	20				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:40580552T>G	uc002omy.2	-	6	2022	c.1797A>C	c.(1795-1797)CAA>CAC	p.Q599H	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q599H|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q600H	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	599	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403		NaN											0	0	0	0.00308	0	6	211				
ZNF780A	284323	broad.mit.edu	37	19	40580582	40580582	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:40580582C>T	uc002omy.2	-	6	1992	c.1767G>A	c.(1765-1767)GAG>GAA	p.E589E	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.E589E|ZNF780A_uc010xvh.1_Silent_p.E590E	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	589	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393		NaN											0	0	0	0.000602	0	4	251				
CYP2A6	1548	broad.mit.edu	37	19	41351241	41351241	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:41351241T>C	uc002opl.3	-	7	1140	c.1119A>G	c.(1117-1119)AGA>AGG	p.R373R	CYP2A6_uc010ehe.1_Silent_p.R169R	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	373					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CCTTTTTGACTCTGCGGGCCA	0.572		NaN											0	0	0	0.008291	0	5	270				
CIC	23152	broad.mit.edu	37	19	42796294	42796294	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:42796294G>C	uc002otf.1	+	12	2983	c.2943G>C	c.(2941-2943)CTG>CTC	p.L981L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	981	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				TGCCGCCCCTGAGCCCAGCCA	0.652		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.00361	0	80	64				
ZNF230	7773	broad.mit.edu	37	19	44514657	44514657	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44514657G>C	uc002oyb.1	+	5	717	c.466G>C	c.(466-468)GAT>CAT	p.D156H		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	156	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGCCATCTTTGATCCTCCTCA	0.453		NaN											0	0	0	0.00361	0	79	117				
ZNF223	7766	broad.mit.edu	37	19	44571265	44571265	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44571265C>G	uc002oyf.1	+	5	1537	c.1284C>G	c.(1282-1284)TTC>TTG	p.F428L	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	428	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				AAAAACCATTCAAATGTGAGG	0.408		NaN											0	0	0	0.00361	0	60	66				
CEACAM19	56971	broad.mit.edu	37	19	45175238	45175238	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:45175238C>T	uc002ozo.3	+	1	515	c.35C>T	c.(34-36)TCA>TTA	p.S12L	CEACAM19_uc002ozp.3_Missense_Mutation_p.S12L	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	12						integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GGCTGCTTCTCAAAGAGCCTC	0.562		NaN											0	0	0	0.00499	0	12	17				
GIPR	2696	broad.mit.edu	37	19	46178078	46178078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:46178078G>A	uc002pcu.1	+	7	726	c.627G>A	c.(625-627)TGG>TGA	p.W209*	GIPR_uc002pct.1_Nonsense_Mutation_p.W209*|GIPR_uc010xxp.1_Nonsense_Mutation_p.W173*|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	209	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTGCGCTGTGGAACCAGGTGG	0.577		NaN											0	0	0	0.004656	0	20	61				
TULP2	7288	broad.mit.edu	37	19	49392787	49392787	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:49392787C>T	uc002pkz.2	-	7	767	c.616G>A	c.(616-618)GAA>AAA	p.E206K		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	206					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCCAAGTTTTCATATACACAG	0.502		NaN											0	0	0	0.00361	0	65	135				
ZNF766	90321	broad.mit.edu	37	19	52785369	52785369	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52785369C>T	uc002pyr.1	+	2	67	c.24C>T	c.(22-24)CAC>CAT	p.H8H	ZNF766_uc002pys.1_Silent_p.H8H|ZNF766_uc002pyt.1_Silent_p.H23H	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTTAGGGACACTTGACATTCA	0.438		NaN											0	0	0	0.00361	0	147	163				
ZNF480	147657	broad.mit.edu	37	19	52824897	52824897	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52824897T>A	uc010ydl.1	+	5	464	c.394T>A	c.(394-396)TTT>ATT	p.F132I	ZNF480_uc002pyv.2_Missense_Mutation_p.F55I|ZNF480_uc010ydm.1_Missense_Mutation_p.F89I|ZNF480_uc010epn.2_5'UTR|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGGAGTATCCTTTCACTTACA	0.378		NaN											0	0	0	0.006122	0	14	78				
ZNF761	388561	broad.mit.edu	37	19	53959484	53959484	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:53959484G>C	uc010eqp.2	+	7	2181	c.1723G>C	c.(1723-1725)GAG>CAG	p.E575Q	ZNF761_uc010ydy.1_Missense_Mutation_p.E521Q|ZNF761_uc002qbt.1_Missense_Mutation_p.E521Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TCATAGTGGAGAGAACCCTTA	0.383		NaN											0	0	0	0.010729	0	11	91				
USP29	57663	broad.mit.edu	37	19	57642777	57642777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:57642777G>A	uc002qny.2	+	4	3090	c.2734G>A	c.(2734-2736)GAA>AAA	p.E912K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	912					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTCAGGGGGAATACGAAGG	0.468		NaN											0	0	0	0.00361	0	76	92				
ZNF544	27300	broad.mit.edu	37	19	58772798	58772799	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:58772798_58772799GG>AT	uc010euo.2	+	7	1300_1301	c.826_827GG>AT	c.(826-828)GGA>ATA	p.G276I	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.G248I|ZNF544_uc010yhy.1_Missense_Mutation_p.G248I|ZNF544_uc002qrt.3_Missense_Mutation_p.G134I|ZNF544_uc002qru.3_Missense_Mutation_p.G134I|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TAAGGATTATGGAAACCTCTTC	0.411		NaN											0	0	0	0.004672	0	13	82				
LAPTM4A	9741	broad.mit.edu	37	2	20251207	20251207	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251207G>C	uc002rdm.2	-	1	583	c.75C>G	c.(73-75)GTC>GTG	p.V25V	LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.V25V	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	25					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCGGTGCGGACATGGCAAC	0.667		NaN											0	0	0	0.002299	0	17	16				
LAPTM4A	9741	broad.mit.edu	37	2	20251240	20251240	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251240G>A	uc002rdm.2	-	1	550	c.42C>T	c.(40-42)TTC>TTT	p.F14F	LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.F14F	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	14					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGCTGTAGAACCGGTCAC	0.642		NaN											0	0	0	0.00499	0	13	15				
SDC1	6382	broad.mit.edu	37	2	20405149	20405149	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20405149C>T	uc002rdo.1	-	2	402	c.103G>A	c.(103-105)GAT>AAT	p.D35N	SDC1_uc002rdp.1_Missense_Mutation_p.D35N|SDC1_uc010exv.2_Missense_Mutation_p.D35N|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	35	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCAGAGCCATCTTGATCTTCA	0.557		NaN											0	0	0	0.00361	0	50	114				
ASXL2	55252	broad.mit.edu	37	2	25990551	25990551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:25990551G>A	uc002rgs.2	-	7	897	c.676C>T	c.(676-678)CAA>TAA	p.Q226*	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	226	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGTTTTGAGGGCTGCCT	0.418		NaN											0	0	0	0.00361	0	77	12				
TMEM214	54867	broad.mit.edu	37	2	27260564	27260564	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:27260564G>A	uc002ria.3	+	9	1256	c.1146G>A	c.(1144-1146)AAG>AAA	p.K382K	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.K337K	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	382						integral to membrane	protein binding				0						CTGAGATGAAGAAAGAGGTGA	0.547		NaN											0	0	0	0.004656	0	23	98				
EIF2AK2	5610	broad.mit.edu	37	2	37366873	37366873	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:37366873C>T	uc010ynh.1	-	6	974	c.417G>A	c.(415-417)CAG>CAA	p.Q139Q	EIF2AK2_uc010fab.1_Silent_p.Q139Q|EIF2AK2_uc010yng.1_Silent_p.Q139Q|EIF2AK2_uc010fac.2_Silent_p.Q139Q|EIF2AK2_uc010fad.2_Silent_p.Q139Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	139	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TATATTCTTTCTGTCCCATTT	0.323		NaN											0	0	0	0.006214	0	8	41				
SOCS5	9655	broad.mit.edu	37	2	46986049	46986049	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:46986049C>T	uc002rvf.2	+	2	544	c.380C>T	c.(379-381)TCC>TTC	p.S127F	SOCS5_uc010yoe.1_Missense_Mutation_p.S96F|SOCS5_uc002rvg.2_Missense_Mutation_p.S127F	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	127					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAAAAACATTCCTGTTCTACA	0.443		NaN											0	0	0	0.007413	0	18	37				
FOXN2	3344	broad.mit.edu	37	2	48573386	48573386	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:48573386G>A	uc002rwh.1	+	3	348	c.33G>A	c.(31-33)AAG>AAA	p.K11K		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	11					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTCCAGATAAGAGAGCTGAAA	0.423		NaN											0	0	0	0.00361	0	76	15				
SPTBN1	6711	broad.mit.edu	37	2	54858547	54858547	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:54858547G>A	uc002rxu.2	+	16	3612	c.3363G>A	c.(3361-3363)ATG>ATA	p.M1121I	SPTBN1_uc002rxx.2_Missense_Mutation_p.M1108I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1121	Spectrin 8.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			ACCAGAAGATGAGGGACATGG	0.587		NaN											0	0	0	0.00361	0	75	130				
CCDC88A	55704	broad.mit.edu	37	2	55523009	55523009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:55523009G>A	uc002ryv.2	-	31	6114	c.5272C>T	c.(5272-5274)CGA>TGA	p.R1758*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.R1731*|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Nonsense_Mutation_p.R49*|CCDC88A_uc010fbw.2_Nonsense_Mutation_p.R260*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.R1013*|CCDC88A_uc002rys.2_Nonsense_Mutation_p.R716*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.R1042*|CCDC88A_uc010fby.1_Nonsense_Mutation_p.R610*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1759					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TCAGTTTTTCGAGGACCAGGT	0.438		NaN											0	0	0	0.00874	0	36	43				
SLC1A4	6509	broad.mit.edu	37	2	65217170	65217170	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:65217170C>T	uc010yqa.1	+	1	715	c.393C>T	c.(391-393)CTC>CTT	p.L131L	SLC1A4_uc010ypy.1_Intron|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Silent_p.L131L	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	131	Helical; (Potential).				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	CCTCGGCGCTCGCCGTGGCCT	0.687		NaN											0	0	0	0.004656	0	21	3				
DYSF	8291	broad.mit.edu	37	2	71730410	71730410	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71730410C>T	uc002sie.2	+	4	679	c.303C>T	c.(301-303)TTC>TTT	p.F101F	DYSF_uc010feg.2_Silent_p.F101F|DYSF_uc010feh.2_Silent_p.F101F|DYSF_uc002sig.3_Silent_p.F101F|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.F101F|DYSF_uc010fef.2_Silent_p.F101F|DYSF_uc010fei.2_Silent_p.F101F|DYSF_uc010fek.2_Silent_p.F102F|DYSF_uc010fej.2_Silent_p.F102F|DYSF_uc010fel.2_Silent_p.F102F|DYSF_uc010feo.2_Silent_p.F102F|DYSF_uc010fem.2_Silent_p.F102F|DYSF_uc010fen.2_Silent_p.F102F|DYSF_uc002sif.2_Silent_p.F102F	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	101	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCGCCAGCTTCAATGCCCCCC	0.577		NaN											0	0	0	0.00361	0	219	31				
DYSF	8291	broad.mit.edu	37	2	71776507	71776507	+	Missense_Mutation	SNP	C	C	T	rs144931729	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71776507C>T	uc002sie.2	+	17	1884	c.1508C>T	c.(1507-1509)TCG>TTG	p.S503L	DYSF_uc010feg.2_Missense_Mutation_p.S534L|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S503L|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Missense_Mutation_p.S535L|DYSF_uc010fem.2_Missense_Mutation_p.S504L|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Missense_Mutation_p.S504L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	503	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GTCAAGCCTTCGAAAGCCTCA	0.577		NaN											0	0	0	0.010771	0	36	6				
TET3	200424	broad.mit.edu	37	2	74326619	74326619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74326619C>T	uc002skb.3	+	8	3079	c.3079C>T	c.(3079-3081)CGG>TGG	p.R1027W		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1027							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTGCCGCCAGCGGCAGCTGGA	0.637		NaN											0	0	0	0.003954	0	19	15				
BOLA3	388962	broad.mit.edu	37	2	74369455	74369455	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74369455C>G	uc002skc.1	-	3	240	c.202G>C	c.(202-204)GAA>CAA	p.E68Q	BOLA3_uc002skd.1_Intron	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN	bolA-like 3 isoform 1	68						extracellular region					0						TCTTCTGATTCAATTTTAATT	0.423		NaN											0	0	0	0.010771	0	34	65				
MOGS	7841	broad.mit.edu	37	2	74689799	74689799	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689799C>G	uc010ffj.2	-	4	1280	c.1117G>C	c.(1117-1119)GAG>CAG	p.E373Q	MOGS_uc010ffh.2_Missense_Mutation_p.E98Q|MOGS_uc010yrt.1_Missense_Mutation_p.E254Q|MOGS_uc010ffi.2_Missense_Mutation_p.E267Q	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	373	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						AAGGTCTTCTCAAAGCGCTCT	0.587		NaN											0	0	0	0.010818	0	33	108				
MOGS	7841	broad.mit.edu	37	2	74689864	74689864	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689864C>G	uc010ffj.2	-	4	1215	c.1052G>C	c.(1051-1053)AGA>ACA	p.R351T	MOGS_uc010ffh.2_Missense_Mutation_p.R76T|MOGS_uc010yrt.1_Missense_Mutation_p.R232T|MOGS_uc010ffi.2_Missense_Mutation_p.R245T	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	351	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						GCCTGCCAGTCTTGGCAGGGC	0.532		NaN											0	0	0	0.00361	0	69	93				
TGOLN2	10618	broad.mit.edu	37	2	85554607	85554607	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:85554607T>C	uc010fgd.1	-	2	537	c.248A>G	c.(247-249)AAG>AGG	p.K83R	TGOLN2_uc002soz.2_Missense_Mutation_p.K83R|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.K83R|TGOLN2_uc002spc.1_Missense_Mutation_p.K83R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	83	Extracellular (Potential).|14 X 14 AA tandem repeats.|3.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CGCACCCGACTTGTTGGGGGT	0.602		NaN											0	0	0	0.004482	0	7	533				
REV1	51455	broad.mit.edu	37	2	100052376	100052376	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:100052376C>G	uc002tad.2	-	7	1453	c.1241G>C	c.(1240-1242)AGA>ACA	p.R414T	REV1_uc002tac.2_Missense_Mutation_p.R414T	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	414					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						GCTCTGATGTCTGGGAGAATT	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.00361	0	39	119				
NPAS2	4862	broad.mit.edu	37	2	101591943	101591943	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101591943G>A	uc002tap.1	+	14	1592	c.1306G>A	c.(1306-1308)GAG>AAG	p.E436K	NPAS2_uc010yvt.1_Missense_Mutation_p.E501K|NPAS2_uc010fit.1_Missense_Mutation_p.E14K	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	436					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						GCTGATGGCAGAGGCCAGCAC	0.577		NaN											0	0	0	0.00361	0	156	253				
C2orf29	55571	broad.mit.edu	37	2	101885518	101885518	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101885518G>C	uc002taw.3	+	6	1337	c.1255G>C	c.(1255-1257)GAT>CAT	p.D419H		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	419					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TACAGCTGTTGATCTACCTCC	0.279		NaN											0	0	0	0.001168	0	5	24				
IMP4	92856	broad.mit.edu	37	2	131103254	131103254	+	Missense_Mutation	SNP	G	G	A	rs146322628	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131103254G>A	uc002tra.1	+	5	438	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	141	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					GGTCGTTCACGAGCATCGGGG	0.667		NaN											0	0	0	0.00361	0	48	36				
FAM123C	205147	broad.mit.edu	37	2	131520411	131520411	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131520411G>A	uc002trw.2	+	2	956	c.766G>A	c.(766-768)GAT>AAT	p.D256N	FAM123C_uc010fmv.2_Missense_Mutation_p.D256N|FAM123C_uc010fms.1_Missense_Mutation_p.D256N|FAM123C_uc010fmt.1_Missense_Mutation_p.D256N|FAM123C_uc010fmu.1_Missense_Mutation_p.D256N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	256										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTGTTCGCAGATGAGAGCTC	0.647		NaN											0	0	0	0.00361	0	58	54				
LRP1B	53353	broad.mit.edu	37	2	141625324	141625324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:141625324G>C	uc002tvj.1	-	27	5386	c.4414C>G	c.(4414-4416)CCC>GCC	p.P1472A	LRP1B_uc010fnl.1_Missense_Mutation_p.P654A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1472	Extracellular (Potential).|LDL-receptor class B 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCAAAGGGATGGGAAAGG	0.428		NaN								TSP Lung(27;0.18)			0	0	0	0.009096	0	4	78				
NEB	4703	broad.mit.edu	37	2	152468805	152468805	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:152468805C>G	uc010fnx.2	-	74	11162	c.10971G>C	c.(10969-10971)CTG>CTC	p.L3657L		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3657	Nebulin 100.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGTCACTCAGGATTTCTC	0.473		NaN											0	0	0	0.00361	0	49	6				
HOXD13	3239	broad.mit.edu	37	2	176958267	176958267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:176958267G>A	uc002ukf.1	+	1	736	c.649G>A	c.(649-651)GAG>AAG	p.E217K		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	217					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCTCCGGGGAGCCTCGGCA	0.617		NaN	T	NUP98	AML*								0	0	0	0.00361	0	67	12				
COL5A2	1290	broad.mit.edu	37	2	189931201	189931201	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:189931201G>A	uc002uqk.2	-	23	1753	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	493					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGGCCTATCGGACCCTGAAT	0.478		NaN											0	0	0	0.00361	0	51	136				
AOX1	316	broad.mit.edu	37	2	201469496	201469496	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:201469496G>T	uc002uvx.2	+	9	848	c.747G>T	c.(745-747)CTG>CTT	p.L249L		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	249	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGACCCTGAAGGAACTGC	0.448		NaN											1	0	3.27315e-48	0.00361	3.59501e-48	85	41				
ICOS	29851	broad.mit.edu	37	2	204820542	204820542	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820542A>T	uc002vam.2	+	2	309	c.242A>T	c.(241-243)AAA>ATA	p.K81I	ICOS_uc010zip.1_Missense_Mutation_p.K81I|ICOS_uc010fua.2_Missense_Mutation_p.K81I	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	81	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0						AAGAGTCTGAAATTCTGCCAT	0.388		NaN											0	0	0	0.010818	0	29	63				
ICOS	29851	broad.mit.edu	37	2	204820544	204820544	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820544T>C	uc002vam.2	+	2	311	c.244T>C	c.(244-246)TTC>CTC	p.F82L	ICOS_uc010zip.1_Missense_Mutation_p.F82L|ICOS_uc010fua.2_Missense_Mutation_p.F82L	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	82	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0						GAGTCTGAAATTCTGCCATTC	0.388		NaN											0	0	0	0.010818	0	28	61				
BARD1	580	broad.mit.edu	37	2	215645993	215645993	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:215645993G>C	uc002veu.2	-	4	740	c.605C>G	c.(604-606)TCT>TGT	p.S202C	BARD1_uc010zjm.1_Missense_Mutation_p.S58C	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	202					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTTCCAGATCTTGCAGA	0.368		NaN							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				0	0	0	0.001984	0	7	15				
OBSL1	23363	broad.mit.edu	37	2	220432452	220432452	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:220432452G>A	uc010fwk.2	-	3	1579	c.1522C>T	c.(1522-1524)CTC>TTC	p.L508F	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.L508F|OBSL1_uc002vmj.2_Missense_Mutation_p.L95F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	508					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TTTACTCTGAGAAGCGTAGTG	0.597		NaN											0	0	0	0.005443	0	22	66				
MFF	56947	broad.mit.edu	37	2	228205033	228205033	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:228205033G>C	uc002vos.2	+	6	873	c.455G>C	c.(454-456)AGA>ACA	p.R152T	MFF_uc002vot.2_Missense_Mutation_p.R126T|MFF_uc002vou.2_Missense_Mutation_p.R152T|MFF_uc002vov.2_Missense_Mutation_p.R126T|MFF_uc002vow.2_Missense_Mutation_p.R126T|MFF_uc002vox.2_Missense_Mutation_p.R126T|MFF_uc002voy.2_Missense_Mutation_p.R152T|MFF_uc002voz.2_Missense_Mutation_p.R126T	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	152	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						AGACTAAAAAGAGAGCGGTCT	0.413		NaN											0	0	0	0.00874	0	28	18				
USP40	55230	broad.mit.edu	37	2	234386116	234386116	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:234386116G>A	uc010zmr.1	-	31	3666	c.3666C>T	c.(3664-3666)ATC>ATT	p.I1222I	USP40_uc002vul.2_Silent_p.I206I	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1210					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CACTGGAGAGGATGTAGCTGC	0.602		NaN											0	0	0	0.006122	0	15	45				
IDH3B	3420	broad.mit.edu	37	20	2639436	2639436	+	Missense_Mutation	SNP	G	G	C	rs140692628		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2639436G>C	uc002wgp.2	-	12	1128	c.1119C>G	c.(1117-1119)ATC>ATG	p.I373M	IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.I221M	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	373					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	TGACAGACTTGATGAAGTCGG	0.552		NaN											0	0	0	0.00874	0	31	45				
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2640753G>C	uc002wgp.2	-	9	847	c.838C>G	c.(838-840)CTG>GTG	p.L280V	IDH3B_uc002wgq.2_Missense_Mutation_p.L280V|IDH3B_uc002wgr.2_Missense_Mutation_p.L128V	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	280					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CCAGCAGCCAGATTGTCAATA	0.517		NaN											0	0	0	0.009718	0	38	55				
SEC23B	10483	broad.mit.edu	37	20	18535017	18535017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:18535017G>A	uc002wqz.1	+	18	2574	c.2131G>A	c.(2131-2133)GAG>AAG	p.E711K	SEC23B_uc002wra.1_Missense_Mutation_p.E711K|SEC23B_uc002wrb.1_Missense_Mutation_p.E711K|SEC23B_uc010zsb.1_Missense_Mutation_p.E693K|SEC23B_uc002wrc.1_Missense_Mutation_p.E711K	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	711					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						CATCAACACGGAGCATGGAGG	0.458		NaN											0	0	0	0.00361	0	78	63				
C20orf26	26074	broad.mit.edu	37	20	20177385	20177385	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20177385T>G	uc002wru.2	+	16	1838	c.1762T>G	c.(1762-1764)TAC>GAC	p.Y588D	C20orf26_uc010zse.1_Missense_Mutation_p.Y568D	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	588										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ATCCTGTCTCTACTACCGTGT	0.473		NaN											0	0	0	0.010504	0	18	56				
C20orf26	26074	broad.mit.edu	37	20	20257987	20257987	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20257987G>C	uc002wru.2	+	22	2757	c.2681G>C	c.(2680-2682)GGA>GCA	p.G894A	C20orf26_uc010zse.1_Missense_Mutation_p.G874A|C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	894										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GGAGCCGCCGGAGTCACTATG	0.652		NaN											0	0	0	0.007291	0	28	58				
ENTPD6	955	broad.mit.edu	37	20	25203528	25203528	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25203528G>C	uc002wuj.2	+	12	1280	c.1100G>C	c.(1099-1101)AGA>ACA	p.R367T	ENTPD6_uc010zsz.1_Missense_Mutation_p.R149T|ENTPD6_uc002wum.2_Missense_Mutation_p.R350T|ENTPD6_uc010zta.1_Missense_Mutation_p.R367T|ENTPD6_uc002wun.2_Missense_Mutation_p.R333T|ENTPD6_uc002wuk.2_Missense_Mutation_p.R366T|ENTPD6_uc002wul.2_Missense_Mutation_p.R366T|ENTPD6_uc010ztb.1_Missense_Mutation_p.R339T|ENTPD6_uc010ztc.1_Missense_Mutation_p.R339T|ENTPD6_uc002wuo.2_Missense_Mutation_p.R119T|ENTPD6_uc010ztd.1_Missense_Mutation_p.R115T|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	367	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						CTTCAAAACAGAGTGCACAGG	0.582		NaN											0	0	0	0.00361	0	116	65				
NINL	22981	broad.mit.edu	37	20	25459797	25459797	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25459797C>T	uc002wux.1	-	16	2037	c.1963G>A	c.(1963-1965)GAG>AAG	p.E655K	NINL_uc010gdn.1_Missense_Mutation_p.E655K|NINL_uc010gdo.1_Missense_Mutation_p.E438K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	655	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTCTCCTTCTCAAAGTTCCTT	0.537		NaN											0	0	0	0.00333	0	19	71				
CBFA2T2	9139	broad.mit.edu	37	20	32210977	32210977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:32210977G>C	uc002wzg.1	+	6	1131	c.594G>C	c.(592-594)CAG>CAC	p.Q198H	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.Q189H|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.Q169H|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	198	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CGGCCAAGCAGACCCCATCCC	0.582		NaN											0	0	0	0.004289	0	32	129				
NCOA6	23054	broad.mit.edu	37	20	33364229	33364229	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33364229C>T	uc002xav.2	-	5	2829	c.258G>A	c.(256-258)CAG>CAA	p.Q86Q	NCOA6_uc002xaw.2_Silent_p.Q86Q|NCOA6_uc010gew.1_Silent_p.Q86Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	86	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GCTCCACCTTCTGTACTTTTA	0.453		NaN											0	0	0	0.00278	0	19	51				
UQCC	55245	broad.mit.edu	37	20	33891825	33891825	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33891825C>T	uc002xcd.2	-	10	880	c.813G>A	c.(811-813)GGG>GGA	p.G271G	UQCC_uc010zuy.1_Silent_p.G172G|UQCC_uc010zuz.1_Silent_p.G116G|UQCC_uc010zva.1_Silent_p.G134G|UQCC_uc002xce.2_Silent_p.G244G|UQCC_uc002xcg.2_Silent_p.G137G|UQCC_uc010gfb.2_Silent_p.G245G|UQCC_uc010zvb.1_Silent_p.G203G|UQCC_uc002xcf.2_Silent_p.G159G|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.G84G	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	271						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGCTCACCTCCCCTGTCAGAA	0.592		NaN									OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	71	53				
CHD6	84181	broad.mit.edu	37	20	40127937	40127937	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:40127937C>T	uc002xka.1	-	6	1091	c.913G>A	c.(913-915)GAG>AAG	p.E305K	CHD6_uc002xkd.2_Missense_Mutation_p.E283K|CHD6_uc002xkc.2_Missense_Mutation_p.E340K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	305	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CCACCAACCTCCTGGACAGTC	0.403		NaN											0	0	0	0.006122	0	13	5				
TOX2	84969	broad.mit.edu	37	20	42694696	42694696	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:42694696C>A	uc002xlf.3	+	6	1268	c.1251C>A	c.(1249-1251)CCC>CCA	p.P417P	TOX2_uc010ggo.2_Silent_p.P435P|TOX2_uc002xle.3_Silent_p.P393P|TOX2_uc010ggp.2_Silent_p.P393P|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.P313P	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCACCCCCATGGCACTCC	0.677		NaN											1	0	2.47907e-22	0.00361	2.6826e-22	48	25				
ZMYND8	23613	broad.mit.edu	37	20	45875047	45875047	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:45875047C>G	uc002xta.1	-	14	2183	c.1929G>C	c.(1927-1929)GAG>GAC	p.E643D	ZMYND8_uc010ghq.1_Missense_Mutation_p.E320D|ZMYND8_uc010ghr.1_Missense_Mutation_p.E618D|ZMYND8_uc002xst.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsu.1_Missense_Mutation_p.E643D|ZMYND8_uc002xsv.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsw.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsx.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsy.1_Missense_Mutation_p.E618D|ZMYND8_uc002xsz.1_Missense_Mutation_p.E580D|ZMYND8_uc010zxy.1_Missense_Mutation_p.E670D|ZMYND8_uc002xtb.1_Missense_Mutation_p.E663D|ZMYND8_uc002xss.2_Missense_Mutation_p.E643D|ZMYND8_uc010zxz.1_Missense_Mutation_p.E638D|ZMYND8_uc002xtc.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtd.1_Missense_Mutation_p.E638D|ZMYND8_uc002xte.1_Missense_Mutation_p.E643D|ZMYND8_uc010zya.1_Missense_Mutation_p.E643D|ZMYND8_uc002xtf.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtg.2_Missense_Mutation_p.E637D|ZMYND8_uc010ghs.1_Missense_Mutation_p.E637D	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	643							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTCTTTAATCTCCACTGGGT	0.512		NaN											0	0	0	0.00361	0	42	158				
PARD6B	84612	broad.mit.edu	37	20	49354553	49354553	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:49354553G>A	uc002xvo.2	+	2	469	c.226G>A	c.(226-228)GAT>AAT	p.D76N		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	76	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						AAATAATGATGATAATTATCA	0.338		NaN											0	0	0	0.00361	0	41	22				
ZNF831	128611	broad.mit.edu	37	20	57768706	57768706	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:57768706G>A	uc002yan.2	+	1	2632	c.2632G>A	c.(2632-2634)GAG>AAG	p.E878K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	878						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCAGGTGGGCGAGCCTCTGGA	0.657		NaN											0	0	0	0.007413	0	14	86				
CDH4	1002	broad.mit.edu	37	20	60509192	60509192	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60509192G>C	uc002ybn.1	+	15	2472	c.2458G>C	c.(2458-2460)GAT>CAT	p.D820H	CDH4_uc002ybp.1_Missense_Mutation_p.D746H	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	820	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTCGCGTGGATGAGCGGCC	0.677		NaN											0	0	0	0.004007	0	11	74				
LAMA5	3911	broad.mit.edu	37	20	60921967	60921967	+	Splice_Site	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60921967A>C	uc002ycq.2	-	7	1139	c.1072_splice	c.e7+1	p.S358_splice		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGCACTCACACTGGCACT	0.687		NaN											0	0	0	0.007835	0	33	52				
CABLES2	81928	broad.mit.edu	37	20	60968519	60968519	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60968519G>A	uc002ycv.2	-	6	864	c.857C>T	c.(856-858)TCG>TTG	p.S286L		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	286					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTGGTGCCGACTTGGTGGG	0.637		NaN											0	0	0	0.00361	0	45	151				
RNF160	26046	broad.mit.edu	37	21	30339132	30339132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30339132C>G	uc002ymr.2	-	10	1832	c.1819G>C	c.(1819-1821)GAG>CAG	p.E607Q	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	561							ligase activity|zinc ion binding				0						TCAATCTTCTCTCCTTCTGAA	0.348		NaN											0	0	0	0.001855	0	13	7				
GRIK1	2897	broad.mit.edu	37	21	30934029	30934029	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30934029C>G	uc002yno.1	-	15	2736	c.2272G>C	c.(2272-2274)GAG>CAG	p.E758Q	GRIK1_uc002ynn.2_Missense_Mutation_p.E743Q|GRIK1_uc011acs.1_Missense_Mutation_p.E758Q|GRIK1_uc011act.1_Missense_Mutation_p.E619Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	758	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTCACATACTCAATGCTGGTG	0.547		NaN											0	0	0	0.00361	0	48	31				
GRIK1	2897	broad.mit.edu	37	21	31066295	31066295	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:31066295C>T	uc002yno.1	-	2	670	c.206G>A	c.(205-207)CGA>CAA	p.R69Q	GRIK1_uc002ynn.2_Missense_Mutation_p.R69Q|GRIK1_uc011acs.1_Missense_Mutation_p.R69Q|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.R69Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	69	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGGGTTCGGTTTCTGTT	0.398		NaN											0	0	0	0.012213	0	26	71				
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:34926321C>T	uc002yse.1	+	3	4833	c.4784C>T	c.(4783-4785)TCT>TTT	p.S1595F	SON_uc002ysb.1_Missense_Mutation_p.S1595F|SON_uc002ysc.2_Missense_Mutation_p.S1595F|SON_uc002ysd.2_Missense_Mutation_p.S586F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S586F	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1595					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						ACTCTATCTTCTACTGGTCCT	0.413		NaN											0	0	0	0.007291	0	25	51				
SLC5A3	6526	broad.mit.edu	37	21	35468011	35468011	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:35468011C>T	uc002yto.2	+	2	1026	c.514C>T	c.(514-516)CTG>TTG	p.L172L	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	172	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						GACTGCTTTGCTGACTGTCAC	0.473		NaN											0	0	0	0.004878	0	29	84				
COL18A1	80781	broad.mit.edu	37	21	46876059	46876059	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:46876059C>G	uc011afs.1	+	1	636	c.615C>G	c.(613-615)CTC>CTG	p.L205L	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L205L	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	205					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCACCACTCACGGGGCCCT	0.687		NaN											0	0	0	0.010504	0	18	52				
IL17RA	23765	broad.mit.edu	37	22	17579721	17579721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:17579721G>A	uc002zly.2	+	4	500	c.367G>A	c.(367-369)GAA>AAA	p.E123K	IL17RA_uc010gqt.2_Missense_Mutation_p.E123K	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	123	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAACACCAATGAACGTTTGTG	0.512		NaN											0	0	0	0.008361	0	26	102				
CLTCL1	8218	broad.mit.edu	37	22	19196576	19196576	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:19196576C>G	uc002zpb.2	-	21	3373	c.3298G>C	c.(3298-3300)GAG>CAG	p.E1100Q	CLTCL1_uc011agv.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpe.2_Missense_Mutation_p.E60Q|CLTCL1_uc002zpd.1_Missense_Mutation_p.E60Q	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1100	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TTGCATCTCTCCGCAAACTCA	0.517		NaN	T	NaN	ALCL								0	0	0	0.00308	0	7	16				
RTN4R	65078	broad.mit.edu	37	22	20230351	20230351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:20230351G>C	uc002zrv.2	-	2	506	c.305C>G	c.(304-306)ACT>AGT	p.T102S	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	102	LRR 2.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GGCCAGGCCAGTGAAGGCAGC	0.637		NaN											0	0	0	0.00361	0	48	25				
SNAP29	9342	broad.mit.edu	37	22	21213633	21213633	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:21213633G>A	uc011ahw.1	+	1	342	c.235G>A	c.(235-237)GAG>AAG	p.E79K	PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank	NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	79	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGCCTCTTCCGAGGTGAGCCT	0.612		NaN											0	0	0	0.003755	0	27	44				
AP1B1	162	broad.mit.edu	37	22	29738343	29738343	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:29738343C>T	uc003afj.2	-	12	1651	c.1467G>A	c.(1465-1467)GTG>GTA	p.V489V	AP1B1_uc003afi.2_Silent_p.V489V|AP1B1_uc003afk.2_Silent_p.V489V|AP1B1_uc003afl.2_Silent_p.V489V|AP1B1_uc011ako.1_Silent_p.V42V	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	489					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAAAGAGTTTCACAATGGCTG	0.582		NaN											0	0	0	0.00361	0	61	19				
ASCC2	84164	broad.mit.edu	37	22	30185085	30185085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:30185085C>A	uc003agr.2	-	20	2296	c.2191G>T	c.(2191-2193)GAA>TAA	p.E731*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.E731*|ASCC2_uc011akr.1_Nonsense_Mutation_p.E655*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TTGTTGGCTTCCTTCTTCCTG	0.622		NaN											1	0	2.43435e-39	0.00361	2.65603e-39	119	403				
SLC5A4	6527	broad.mit.edu	37	22	32616910	32616910	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:32616910C>T	uc003ami.2	-	14	1767	c.1765G>A	c.(1765-1767)GAA>AAA	p.E589K		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	589	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						ATATTACCTTCTTCAACACCA	0.408		NaN											0	0	0	0.00361	0	47	65				
RASD2	23551	broad.mit.edu	37	22	35947637	35947637	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:35947637A>G	uc003anx.2	+	3	564	c.359A>G	c.(358-360)AAG>AGG	p.K120R	RASD2_uc003any.2_Missense_Mutation_p.K120R	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	120					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CTGGAGGTCAAGTCCTGCCTG	0.597		NaN											0	0	0	0.003755	0	28	98				
MYH9	4627	broad.mit.edu	37	22	36681357	36681357	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36681357C>T	uc003apg.2	-	38	5524	c.5293G>A	c.(5293-5295)GAC>AAC	p.D1765N		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1765	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGGTTCAGGTCGGTGTTGATC	0.617		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	0.007835	0	36	118				
TXN2	25828	broad.mit.edu	37	22	36876824	36876824	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36876824G>C	uc003apk.1	-	2	138	c.61C>G	c.(61-63)CAG>GAG	p.Q21E	TXN2_uc003apl.1_RNA	NM_012473	NP_036605	Q99757	THIOM_HUMAN	thioredoxin 2 precursor	21					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity				0						CACTGACCCTGAGAGGGCTTC	0.577		NaN											0	0	0	0.00333	0	23	78				
FOXRED2	80020	broad.mit.edu	37	22	36900716	36900716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36900716C>T	uc003apn.3	-	2	733	c.625G>A	c.(625-627)GAG>AAG	p.E209K	FOXRED2_uc003apo.3_Missense_Mutation_p.E209K|FOXRED2_uc003app.3_Missense_Mutation_p.E209K	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	209					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						ACAAAGTCCTCAGGGTCCACG	0.527		NaN											0	0	0	0.00361	0	63	44				
RPL3	6122	broad.mit.edu	37	22	39712783	39712783	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:39712783C>G	uc003axi.2	-	4	497	c.429G>C	c.(427-429)AAG>AAC	p.K143N	RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_5'UTR|RPL3_uc010gxx.2_Missense_Mutation_p.K91N|RPL3_uc003axg.2_Missense_Mutation_p.K91N|RPL3_uc003axk.1_5'UTR	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					CCAGCTGCTTCTTGCCATCCT	0.547		NaN									OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.007291	0	29	106				
FAM83F	113828	broad.mit.edu	37	22	40417887	40417887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:40417887G>A	uc003ayk.1	+	4	1467	c.1373G>A	c.(1372-1374)AGC>AAC	p.S458N		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	458										breast(1)	1						GGCATGGCCAGCTCTGTCTCC	0.657		NaN											0	0	0	0.010504	0	14	80				
EP300	2033	broad.mit.edu	37	22	41537064	41537064	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:41537064C>G	uc003azl.3	+	10	2286	c.1891C>G	c.(1891-1893)CAC>GAC	p.H631D		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	631	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GGAATACTACCACCTTCTAGC	0.373		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	0.006122	0	16	15		Valid		
TCF20	6942	broad.mit.edu	37	22	42607575	42607575	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:42607575G>C	uc003bcj.1	-	1	3871	c.3737C>G	c.(3736-3738)TCT>TGT	p.S1246C	TCF20_uc003bck.1_Missense_Mutation_p.S1246C|TCF20_uc003bnt.2_Missense_Mutation_p.S1246C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						GTTTTGAGAAGAATGATCCTC	0.483		NaN											0	0	0	0.00333	0	21	60				
CYB5R3	1727	broad.mit.edu	37	22	43032768	43032768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43032768G>A	uc003bcz.2	-	2	190	c.106C>T	c.(106-108)CTC>TTC	p.L36F	CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.L26F|CYB5R3_uc011aps.1_Missense_Mutation_p.L69F|CYB5R3_uc003bcy.2_Missense_Mutation_p.L13F|CYB5R3_uc003bcx.2_Missense_Mutation_p.L13F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	36					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	GGGCTCTCGAGGGTGATGGCT	0.627		NaN											0	0	0	0.003271	0	33	28				
TMEM40	55287	broad.mit.edu	37	3	12783978	12783978	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:12783978C>G	uc003bxg.1	-	5	457	c.330G>C	c.(328-330)TTG>TTC	p.L110F	TMEM40_uc003bxh.1_Missense_Mutation_p.L80F|TMEM40_uc003bxi.1_Missense_Mutation_p.L34F|TMEM40_uc011auv.1_Missense_Mutation_p.L126F	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	110						integral to membrane					0						GCTCATCCTTCAAAACGTCAG	0.517		NaN											0	0	0	0.00361	0	74	98				
GRIP2	80852	broad.mit.edu	37	3	14583429	14583429	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:14583429G>T	uc011avi.1	-	1	160	c.160C>A	c.(160-162)CAT>AAT	p.H54N	GRIP2_uc011avh.1_5'Flank|GRIP2_uc003byv.1_5'Flank	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	Error:Variant_position_missing_in_Q9C0E4_after_alignment					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GGCTCGCCATGAAGACCCTGG	0.572		NaN											1	0	1.33987e-11	0.008291	1.40155e-11	8	12				
MRPS25	64432	broad.mit.edu	37	3	15094937	15094937	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094937C>G	uc003bzl.2	-	3	394	c.279G>C	c.(277-279)AAG>AAC	p.K93N	MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.K93N	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	93					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CCTTATTGCTCTTGGTCTCCA	0.488		NaN											0	0	0	0.00278	0	18	58				
MRPS25	64432	broad.mit.edu	37	3	15094945	15094945	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094945C>G	uc003bzl.2	-	3	386	c.271G>C	c.(271-273)GAG>CAG	p.E91Q	MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.E91Q	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	91					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CTCTTGGTCTCCACATCCACC	0.473		NaN											0	0	0	0.00278	0	17	58				
EFHB	151651	broad.mit.edu	37	3	19975088	19975088	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:19975088C>A	uc003cbl.3	-	1	619	c.423G>T	c.(421-423)GGG>GGT	p.G141G	EFHB_uc003cbm.2_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	141					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						CTCTCCTGCTCCCTGCAGCCT	0.493		NaN											1	0	4.26978e-12	0.00333	4.48055e-12	21	82				
SCN5A	6331	broad.mit.edu	37	3	38622656	38622656	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:38622656C>G	uc003cio.2	-	17	3188	c.2994G>C	c.(2992-2994)CAG>CAC	p.Q998H	SCN5A_uc003cin.2_Missense_Mutation_p.Q998H|SCN5A_uc003cil.3_Missense_Mutation_p.Q998H|SCN5A_uc010hhi.2_Missense_Mutation_p.Q998H|SCN5A_uc010hhk.2_Missense_Mutation_p.Q998H|SCN5A_uc011ayr.1_Missense_Mutation_p.Q998H|SCN5A_uc010hhj.1_Missense_Mutation_p.Q609H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	998					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGCTGGCCCTGGGCGGCAA	0.672		NaN											0	0	0	0.003163	0	14	15				
HHATL	57467	broad.mit.edu	37	3	42734575	42734575	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:42734575G>A	uc003clw.2	-	12	1531	c.1384C>T	c.(1384-1386)CTC>TTC	p.L462F	HHATL_uc003clx.2_Missense_Mutation_p.L462F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	462	Helical; (Potential).				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCACCTGTGAGTAGCAGGCGC	0.567		NaN											0	0	0	0.009096	0	4	264				
BSN	8927	broad.mit.edu	37	3	49698105	49698105	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49698105G>A	uc003cxe.3	+	6	8941	c.8827G>A	c.(8827-8829)GAG>AAG	p.E2943K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2943	Potential.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTGCTCCGGGAGCTGGACCG	0.657		NaN											0	0	0	0.008291	0	7	22				
C3orf54	389119	broad.mit.edu	37	3	49842359	49842359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49842359C>A	uc003cxq.1	+	2	936	c.803C>A	c.(802-804)GCA>GAA	p.A268E		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	266											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCACGCTTTGCAGCTCTCATG	0.597		NaN											1	0	1.23719e-20	0.00361	1.33658e-20	70	216				
SEMA3B	7869	broad.mit.edu	37	3	50314055	50314055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:50314055C>T	uc003cyu.2	+	19	2410	c.2168C>T	c.(2167-2169)TCG>TTG	p.S723L	SEMA3B_uc003cyt.2_Missense_Mutation_p.S722L|SEMA3B_uc003cyv.2_Missense_Mutation_p.S610L|SEMA3B_uc003cyw.2_Missense_Mutation_p.S446L|SEMA3B_uc010hli.2_Missense_Mutation_p.S615L|SEMA3B_uc003cyx.2_Missense_Mutation_p.S609L|SEMA3B_uc003cyy.2_Missense_Mutation_p.S380L|SEMA3B_uc011bdo.1_Missense_Mutation_p.S380L|C3orf45_uc003cyz.2_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	723					axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCCTGGAGTCGCGGAGAAAG	0.721		NaN											0	0	0	0.00499	0	14	8				
ACY1	95	broad.mit.edu	37	3	52019910	52019910	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:52019910G>C	uc003dcp.2	+	5	368	c.307G>C	c.(307-309)GAG>CAG	p.E103Q	ABHD14B_uc003dcn.2_5'Flank|ACY1_uc011bea.1_Missense_Mutation_p.E193Q|ACY1_uc011beb.1_Missense_Mutation_p.E103Q|ACY1_uc003dcq.2_Missense_Mutation_p.E103Q	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	103					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CAAGGATTCTGAGGGCTACAT	0.552		NaN											0	0	0	0.010729	0	9	19				
ACTR8	93973	broad.mit.edu	37	3	53905383	53905383	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:53905383C>A	uc003dhd.2	-	11	1502	c.1443G>T	c.(1441-1443)CTG>CTT	p.L481L	ACTR8_uc003dhb.2_Silent_p.L186L|ACTR8_uc003dhc.2_Silent_p.L370L	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	481					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGCCGGCCATCAGGCCATCTC	0.547		NaN											1	0	2.65435e-51	0.00361	2.92023e-51	87	78				
FAM3D	131177	broad.mit.edu	37	3	58631354	58631354	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:58631354C>G	uc003dkq.2	-	5	443	c.146_splice	c.e5-1	p.Q49_splice		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TTTTTAACCTCTGGGGAGGAA	0.587		NaN											0	0	0	0.00361	0	57	34				
SHQ1	55164	broad.mit.edu	37	3	72890342	72890342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:72890342C>G	uc003dpf.2	-	4	447	c.340G>C	c.(340-342)GAG>CAG	p.E114Q	SHQ1_uc010hod.2_Missense_Mutation_p.E25Q	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	114					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGGAATCTCAGAAGCACCT	0.338		NaN											0	0	0	0.001368	0	13	21				
CNTN3	5067	broad.mit.edu	37	3	74344388	74344388	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:74344388C>G	uc003dpm.1	-	18	2482	c.2402_splice	c.e18-1	p.E801_splice		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor						cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGTAGGCTCTGTTCGGAAA	0.353		NaN											0	0	0	0.006999	0	37	23				
ST3GAL6	10402	broad.mit.edu	37	3	98510824	98510824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:98510824C>T	uc003dsz.2	+	9	1132	c.896C>T	c.(895-897)TCT>TTT	p.S299F	ST3GAL6_uc003dsy.2_Missense_Mutation_p.S213F|ST3GAL6_uc003dta.2_Missense_Mutation_p.S181F|ST3GAL6_uc003dtb.2_Missense_Mutation_p.S155F|ST3GAL6_uc003dtc.2_Missense_Mutation_p.S299F|ST3GAL6_uc010hpd.2_Missense_Mutation_p.S352F	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	299	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						GCCACCATGTCTTTGATGAAT	0.373		NaN											0	0	0	0.009535	0	23	53				
IMPG2	50939	broad.mit.edu	37	3	101038512	101038512	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:101038512G>A	uc003duq.1	-	2	453	c.250C>T	c.(250-252)CTG>TTG	p.L84L	IMPG2_uc011bhe.1_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	84	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TTAGGAAACAGAATAGATCTC	0.428		NaN											0	0	0	0.00632	0	27	85				
CBLB	868	broad.mit.edu	37	3	105421029	105421029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:105421029G>C	uc003dwc.2	-	12	2190	c.1868C>G	c.(1867-1869)TCA>TGA	p.S623*	CBLB_uc011bhi.1_Nonsense_Mutation_p.S645*|CBLB_uc003dwd.1_Nonsense_Mutation_p.S623*|CBLB_uc003dwe.1_Nonsense_Mutation_p.S623*	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	623	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						ATTGACATTTGAACTCGCTGT	0.502		NaN	Mis S		AML								0	0	0	0.010504	0	21	51				
CCDC80	151887	broad.mit.edu	37	3	112358139	112358139	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:112358139C>T	uc003dzf.2	-	2	832	c.614G>A	c.(613-615)AGC>AAC	p.S205N	CCDC80_uc011bhv.1_Missense_Mutation_p.S205N|CCDC80_uc003dzg.2_Missense_Mutation_p.S205N|CCDC80_uc003dzh.1_Missense_Mutation_p.S205N	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	205										ovary(2)	2						CTGGCCCTCGCTGGTGATCCT	0.577		NaN											0	0	0	0.00361	0	59	61				
IQCB1	9657	broad.mit.edu	37	3	121509013	121509013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121509013C>A	uc010hre.1	-	11	1251	c.1036G>T	c.(1036-1038)GAG>TAG	p.E346*	IQCB1_uc003eek.2_Nonsense_Mutation_p.E213*|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	346	Potential.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TTGAGGTCCTCTTCTTCCTTC	0.373		NaN											1	0	6.02501e-08	0.00623	6.21359e-08	34	104				
SLC15A2	6565	broad.mit.edu	37	3	121642098	121642098	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121642098G>A	uc003eep.2	+	11	1140	c.987G>A	c.(985-987)AGG>AGA	p.R329R	SLC15A2_uc011bjn.1_Silent_p.R298R	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	329					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAGCCATCAGGATGAATAGGA	0.403		NaN											0	0	0	0.008871	0	18	63				
ZNF148	7707	broad.mit.edu	37	3	124952313	124952313	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:124952313C>A	uc003ehx.3	-	9	1743	c.1257G>T	c.(1255-1257)GAG>GAT	p.E419D	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E419D|ZNF148_uc010hsa.2_Missense_Mutation_p.E419D|ZNF148_uc003eia.3_Missense_Mutation_p.E419D|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	419					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						AAACTTTGCTCTCTTCATATG	0.373		NaN											1	0	4.36969e-10	0.001855	4.53484e-10	13	49				
COL6A6	131873	broad.mit.edu	37	3	130292929	130292929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:130292929G>A	uc010htl.2	+	7	3138	c.3107G>A	c.(3106-3108)AGA>AAA	p.R1036K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1036	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGCCTCAACAGAGTGCGAATA	0.418		NaN											0	0	0	0.004672	0	3	12				
SLCO2A1	6578	broad.mit.edu	37	3	133670119	133670119	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:133670119G>A	uc003eqa.3	-	6	1068	c.794C>T	c.(793-795)TCA>TTA	p.S265L	SLCO2A1_uc003eqb.3_Missense_Mutation_p.S189L|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.S97L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	265	Helical; Name=6; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						CAATAAAGCTGAAGAAATGAG	0.493		NaN											0	0	0	0.012213	0	33	33				
PPP2R3A	5523	broad.mit.edu	37	3	135820922	135820922	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:135820922T>C	uc003eqv.1	+	11	3566	c.3001T>C	c.(3001-3003)TAT>CAT	p.Y1001H	PPP2R3A_uc011blz.1_Missense_Mutation_p.Y265H|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Y380H	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	1001	EF-hand 2.				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GGAGTACTTCTATGAGGAGCA	0.468		NaN											0	0	0	0.00333	0	22	29				
PAQR9	344838	broad.mit.edu	37	3	142682017	142682017	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:142682017G>A	uc003evg.2	-	1	162	c.162C>T	c.(160-162)TTC>TTT	p.F54F	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	54	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						AGCACTCCACGAAGTCGTCGG	0.687		NaN											0	0	0	0.00308	0	7	5				
TM4SF4	7104	broad.mit.edu	37	3	149220466	149220466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:149220466G>C	uc003exd.1	+	5	826	c.595G>C	c.(595-597)GAT>CAT	p.D199H		NM_004617	NP_004608	P48230	T4S4_HUMAN	transmembrane 4 superfamily member 4	199	Cytoplasmic (Potential).					integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTTCTAGGGAGATGGACCCGT	0.403		NaN											0	0	0	0.00361	0	63	42				
SI	6476	broad.mit.edu	37	3	164733762	164733762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:164733762C>T	uc003fei.2	-	32	3928	c.3866G>A	c.(3865-3867)GGA>GAA	p.G1289E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1289	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTATCTCATTCCTTCTCCTCT	0.403		NaN								HNSCC(35;0.089)			0	0	0	0.010504	0	17	69				
MECOM	2122	broad.mit.edu	37	3	168834306	168834306	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:168834306C>A	uc003ffi.3	-	7	1059	c.790G>T	c.(790-792)GAT>TAT	p.D264Y	MECOM_uc010hwk.1_Missense_Mutation_p.D287Y|MECOM_uc003ffj.3_Missense_Mutation_p.D329Y|MECOM_uc011bpi.1_Missense_Mutation_p.D265Y|MECOM_uc003ffn.3_Missense_Mutation_p.D264Y|MECOM_uc003ffk.2_Missense_Mutation_p.D264Y|MECOM_uc003ffl.2_Missense_Mutation_p.D424Y|MECOM_uc011bpj.1_Missense_Mutation_p.D452Y|MECOM_uc011bpk.1_Missense_Mutation_p.D254Y|MECOM_uc010hwn.2_Missense_Mutation_p.D452Y	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	264					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GACGTTTTATCCATAGCTGGG	0.478		NaN											1	0	5.8336e-16	0.003271	6.19057e-16	35	31				
LRRIQ4	344657	broad.mit.edu	37	3	169539844	169539844	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:169539844C>T	uc003fgb.2	+	1	135	c.135C>T	c.(133-135)TTC>TTT	p.F45F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	45	LRR 1.										0						TGGAGATCTTCACATTCACAG	0.398		NaN											0	0	0	0.012319	0	15	60				
TBL1XR1	79718	broad.mit.edu	37	3	176755921	176755921	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:176755921G>C	uc003fiw.3	-	12	1347	c.1087C>G	c.(1087-1089)CTC>GTC	p.L363V	TBL1XR1_uc003fix.3_Missense_Mutation_p.L363V|TBL1XR1_uc011bpz.1_Missense_Mutation_p.L35V	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	363	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GAGGCCAAGAGATTGCCAGTT	0.383		NaN											0	0	0	0.008361	0	21	23				
USP13	8975	broad.mit.edu	37	3	179371085	179371085	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:179371085C>T	uc003fkh.2	+	1	153	c.72C>T	c.(70-72)ATC>ATT	p.I24I	USP13_uc003fkf.2_Silent_p.I24I	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	24					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGAGACATCGGCGAGCTGC	0.692		NaN											0	0	0	0.000602	0	4	3				
CHRD	8646	broad.mit.edu	37	3	184099750	184099750	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:184099750C>G	uc003fov.2	+	6	887	c.641C>G	c.(640-642)TCA>TGA	p.S214*	CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Nonsense_Mutation_p.S214*|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	214	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCGCTTCTCAGACTCCAAT	0.527		NaN											0	0	0	0.004656	0	22	50				
ACAP2	23527	broad.mit.edu	37	3	195063325	195063325	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195063325C>G	uc003fun.3	-	6	644	c.403G>C	c.(403-405)GAA>CAA	p.E135Q	ACAP2_uc003fuo.2_Missense_Mutation_p.E135Q	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	135	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AACGCATTTTCTTTTTCTTCA	0.328		NaN											0	0	0	0.001855	0	14	5				
TFRC	7037	broad.mit.edu	37	3	195780393	195780393	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195780393G>A	uc003fvz.3	-	18	2219	c.1936C>T	c.(1936-1938)CGT>TGT	p.R646C	TFRC_uc003fwa.3_Missense_Mutation_p.R646C|TFRC_uc010hzy.2_Missense_Mutation_p.R565C|TFRC_uc011btr.1_Missense_Mutation_p.R364C	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	646	Cell attachment site; required for binding to transferrin.|Extracellular (Potential).|Ligand-binding.			R->A,H: No binding to transferrin.|R->K: 5% binding to transferrin.	cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AAGTCTCCACGAGCAGAATAC	0.403		NaN	T	BCL6	NHL								0	0	0	0.00361	0	68	59				
GAK	2580	broad.mit.edu	37	4	844837	844837	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:844837C>G	uc003gbm.3	-	26	3743	c.3544G>C	c.(3544-3546)GAT>CAT	p.D1182H	GAK_uc003gbn.3_Missense_Mutation_p.D1103H|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Missense_Mutation_p.D407H|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.D1035H	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1182					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GACAACAGATCTTCAAAGTCG	0.363		NaN											0	0	0	0.012319	0	19	49				
POLN	353497	broad.mit.edu	37	4	2172884	2172884	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:2172884C>G	uc003ger.2	-	10	1399	c.1399G>C	c.(1399-1401)GAA>CAA	p.E467Q	POLN_uc010ich.1_Missense_Mutation_p.E58Q|POLN_uc011bvi.1_Missense_Mutation_p.E467Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	467					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAATGAGCTTCTTGCTCCAAT	0.323		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.00874	0	34	18				
OTOP1	133060	broad.mit.edu	37	4	4199382	4199382	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:4199382G>A	uc003ghp.1	-	5	1209	c.1179C>T	c.(1177-1179)CTC>CTT	p.L393L		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	393	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCCACCAAGAGGTCCGAGT	0.597		NaN											0	0	0	0.00361	0	55	62				
TBC1D1	23216	broad.mit.edu	37	4	38138896	38138896	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:38138896G>A	uc003gtb.2	+	20	3790	c.3447G>A	c.(3445-3447)CGG>CGA	p.R1149R	TBC1D1_uc011byd.1_Silent_p.R1140R|TBC1D1_uc010ifd.2_Silent_p.R936R|TBC1D1_uc003gtd.2_Silent_p.R161R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1149						nucleus	Rab GTPase activator activity			ovary(1)	1						TGCGGCGGCGGAGCGCAGAGC	0.647		NaN											0	0	0	0.004007	0	16	193				
N4BP2	55728	broad.mit.edu	37	4	40104488	40104488	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:40104488G>A	uc003guy.3	+	4	1361	c.1023G>A	c.(1021-1023)GTG>GTA	p.V341V	N4BP2_uc010ifq.2_Silent_p.V261V|N4BP2_uc010ifr.2_Silent_p.V261V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	341	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GGAAGGATGTGAGTTACTGCC	0.502		NaN											0	0	0	0.00333	0	21	37				
LPHN3	23284	broad.mit.edu	37	4	62849139	62849139	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:62849139C>T	uc010ihh.2	+	16	3023	c.2850C>T	c.(2848-2850)TTC>TTT	p.F950F	LPHN3_uc003hcq.3_Silent_p.F950F|LPHN3_uc003hct.2_Silent_p.F343F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	937	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TACATTTCTTCTTCTTGGCTG	0.438		NaN											0	0	0	0.001855	0	10	18				
FRAS1	80144	broad.mit.edu	37	4	79437102	79437102	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:79437102G>A	uc003hlb.2	+	66	10764	c.10324G>A	c.(10324-10326)GAT>AAT	p.D3442N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3437	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTGGACCTTTGATGCTTATTA	0.557		NaN											0	0	0	0.008291	0	11	27				
WDFY3	23001	broad.mit.edu	37	4	85741262	85741262	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:85741262G>A	uc003hpd.2	-	12	2077	c.1669C>T	c.(1669-1671)CTT>TTT	p.L557F	WDFY3_uc003hpf.2_Missense_Mutation_p.L557F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	557						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCCTTGAAGAAGCACTGTC	0.378		NaN											0	0	0	0.011902	0	35	145				
MMRN1	22915	broad.mit.edu	37	4	90857267	90857267	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:90857267T>C	uc003hst.2	+	6	2507	c.2436T>C	c.(2434-2436)GAT>GAC	p.D812D	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.D554D	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	812					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTCCCAGAGATGAGAAACTAA	0.383		NaN											0	0	0	0.010729	0	9	30				
RAP1GDS1	5910	broad.mit.edu	37	4	99325699	99325699	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:99325699G>C	uc003htx.3	+	7	899	c.709G>C	c.(709-711)GAA>CAA	p.E237Q	RAP1GDS1_uc003htw.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E188Q|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E189Q|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E146Q	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	237							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAAACAAATAGAACATGATAA	0.318		NaN	T	NUP98	T-ALL								0	0	0	0.004482	0	9	25				
ANK2	287	broad.mit.edu	37	4	114278820	114278820	+	Missense_Mutation	SNP	G	G	A	rs149963885	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:114278820G>A	uc003ibe.3	+	38	9146	c.9046G>A	c.(9046-9048)GAG>AAG	p.E3016K	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E318K|ANK2_uc011cgb.1_Missense_Mutation_p.E3031K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2983					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCATCTTTCGAGCCTACTAT	0.398		NaN											0	0	0	0.00361	0	42	76				
SYNPO2	171024	broad.mit.edu	37	4	119951529	119951529	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:119951529G>A	uc003icm.3	+	4	1795	c.1599G>A	c.(1597-1599)ACG>ACA	p.T533T	SYNPO2_uc010ina.2_Silent_p.T533T|SYNPO2_uc010inb.2_Silent_p.T533T|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.T461T	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	533						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TGAGAACCACGACTTCTTACC	0.507		NaN											0	0	0	0.003954	0	23	20				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:146059006G>A	uc003ika.3	-	21	2864	c.2726C>T	c.(2725-2727)ACT>ATT	p.T909I	OTUD4_uc003ijz.3_Missense_Mutation_p.T908I	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	973							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463		NaN											0	0	0	0.009096	0	4	133				
MORF4	10934	broad.mit.edu	37	4	174537213	174537213	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:174537213C>G	uc011cke.1	-	1	582	c.582G>C	c.(580-582)AAG>AAC	p.K194N		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AAGCAAGGCTCTTCTCATTCA	0.438		NaN											0	0	0	0.007291	0	25	46				
ADAMTS16	170690	broad.mit.edu	37	5	5239991	5239991	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5239991G>A	uc003jdl.2	+	16	2614	c.2476G>A	c.(2476-2478)GAG>AAG	p.E826K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E826K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	826	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TAATGAGCCCGAGAACTTAAT	0.517		NaN											0	0	0	0.009535	0	27	118				
KIAA0947	23379	broad.mit.edu	37	5	5460802	5460802	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5460802C>T	uc003jdm.3	+	13	1577	c.1355C>T	c.(1354-1356)TCT>TTT	p.S452F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	452										ovary(1)|central_nervous_system(1)	2						CTGAGAGAATCTTCTGCCACA	0.408		NaN											0	0	0	0.006214	0	7	27				
RICTOR	253260	broad.mit.edu	37	5	38947495	38947495	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:38947495C>T	uc003jlp.2	-	32	4209	c.4185G>A	c.(4183-4185)TTG>TTA	p.L1395L	RICTOR_uc003jlo.2_Silent_p.L1419L|RICTOR_uc010ivf.2_Silent_p.L1110L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1395					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.L1395L(1)		ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TAATAGGACTCAATAAATCTT	0.373		NaN											0	0	0	0.010818	0	34	30				
MAP1B	4131	broad.mit.edu	37	5	71494799	71494799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:71494799C>T	uc003kbw.3	+	5	5858	c.5617C>T	c.(5617-5619)CAA>TAA	p.Q1873*	MAP1B_uc010iyw.1_Nonsense_Mutation_p.Q1890*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.Q1747*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.Q1747*	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1873						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTATGCCTATCAAAAGCCTGA	0.473		NaN											0	0	0	0.010818	0	29	7				
CHD1	1105	broad.mit.edu	37	5	98236691	98236691	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:98236691T>C	uc003knf.2	-	6	831	c.683A>G	c.(682-684)GAT>GGT	p.D228G		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	228					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACTTCTTTTATCATTATCATA	0.363		NaN											0	0	0	0.00499	0	15	20				
PPP2CA	5515	broad.mit.edu	37	5	133536147	133536147	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:133536147C>T	uc003kze.2	-	5	1015	c.617G>A	c.(616-618)CGT>CAT	p.R206H		NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	206					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CCAACCACCACGGTCATCTGG	0.413		NaN											0	0	0	0.00874	0	36	12				
PURA	5813	broad.mit.edu	37	5	139494256	139494256	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:139494256C>T	uc003lfa.2	+	1	549	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_005859	NP_005850	Q00577	PURA_HUMAN	purine-rich element binding protein A	164					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACCAGCGCGGCCGCTT	0.692		NaN											0	0	0	0.001855	0	11	30				
WDR55	54853	broad.mit.edu	37	5	140048746	140048746	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140048746G>A	uc003lgr.3	+	6	857	c.743G>A	c.(742-744)CGC>CAC	p.R248H	WDR55_uc011czl.1_Missense_Mutation_p.R87H	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	248					rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGTGACCGCTTTGCCCTG	0.532		NaN											0	0	0	0.00308	0	8	72				
PCDHA2	56146	broad.mit.edu	37	5	140175513	140175513	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140175513G>A	uc003lhd.2	+	1	1070	c.964G>A	c.(964-966)GCA>ACA	p.A322T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A322T|PCDHA2_uc011czy.1_Missense_Mutation_p.A322T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	322	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCACTGCAACTGACAA	0.378		NaN											0	0	0	0.010729	0	12	35				
PCDHB16	57717	broad.mit.edu	37	5	140563916	140563916	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140563916C>T	uc003liv.2	+	1	2937	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	594	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGGACGGCGACTCGGGCC	0.706		NaN											0	0	0	0.001168	0	4	52				
PCDHB9	56127	broad.mit.edu	37	5	140569002	140569002	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140569002C>T	uc003liw.1	+	3	2111	c.2111C>T	c.(2110-2112)TCG>TTG	p.S704L	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	704	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCCTCTCGGTGCTCCTG	0.701		NaN											0	0	0	0.00361	0	99	204				
PCDHGB5	56101	broad.mit.edu	37	5	140779598	140779598	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140779598G>A	uc003lkf.1	+	1	1904	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R635H|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGCCCGCCAGCGCCTG	0.687		NaN											0	0	0	0.00245	0	15	29				
DIAPH1	1729	broad.mit.edu	37	5	140953172	140953172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140953172G>A	uc003llb.3	-	16	2386	c.2245C>T	c.(2245-2247)CCA>TCA	p.P749S	DIAPH1_uc003llc.3_Missense_Mutation_p.P740S|DIAPH1_uc010jgc.1_Missense_Mutation_p.P188S	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	749	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGAGGTGGAGGCATACCC	0.587		NaN											0	0	0	0.003163	0	14	34				
ARHGAP26	23092	broad.mit.edu	37	5	142435652	142435652	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:142435652G>T	uc011dbj.1	+	16	1467	c.1432_splice	c.e16+1	p.K478_splice	ARHGAP26_uc003lmt.2_Splice_Site_p.K478_splice|ARHGAP26_uc003lmw.2_Splice_Site_p.K478_splice	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGCAGCAAGTAAGTCTTTT	0.353		NaN											1	0	2.05212e-20	0.005524	2.21333e-20	33	55				
ARSI	340075	broad.mit.edu	37	5	149676860	149676860	+	Missense_Mutation	SNP	G	G	A	rs142267983		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:149676860G>A	uc003lrv.2	-	2	2216	c.1627C>T	c.(1627-1629)CGT>TGT	p.R543C		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	543						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTGCGACGACCCCGGGAG	0.547		NaN											0	0	0	0.00361	0	42	96				
ODZ2	57451	broad.mit.edu	37	5	167642220	167642220	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:167642220G>A	uc010jjd.2	+	21	3994	c.3994G>A	c.(3994-3996)GAA>AAA	p.E1332K	ODZ2_uc003lzr.3_Missense_Mutation_p.E1102K|ODZ2_uc003lzt.3_Missense_Mutation_p.E705K|ODZ2_uc010jje.2_Missense_Mutation_p.E596K	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCCTTTGATGAAGCCCGCTG	0.557		NaN											0	0	0	0.00361	0	105	23				
RANBP17	64901	broad.mit.edu	37	5	170319554	170319554	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170319554C>G	uc003mba.2	+	4	436	c.420C>G	c.(418-420)CTC>CTG	p.L140L	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Silent_p.L140L|RANBP17_uc011dew.1_Silent_p.L140L	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	140					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGTTTCTCCAGGTAAGAA	0.348		NaN	T	TRD@	ALL								0	0	0	0.009535	0	25	69				
RANBP17	64901	broad.mit.edu	37	5	170610195	170610195	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170610195G>A	uc003mba.2	+	17	1906	c.1890G>A	c.(1888-1890)GTG>GTA	p.V630V	RANBP17_uc003mbb.2_Intron|RANBP17_uc003mbd.2_5'UTR|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_5'UTR	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	630					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAAACTTGTGAAGATAGATG	0.264		NaN	T	TRD@	ALL								0	0	0	0.002299	0	18	1				
BMP6	654	broad.mit.edu	37	6	7727603	7727603	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727603C>T	uc003mxu.3	+	1	593	c.415C>T	c.(415-417)CTG>TTG	p.L139L		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	139					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CATGCTGGATCTGTACAACGC	0.597		NaN											0	0	0	0.012319	0	19	55				
BMP6	654	broad.mit.edu	37	6	7727750	7727750	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727750C>T	uc003mxu.3	+	1	740	c.562C>T	c.(562-564)CTG>TTG	p.L188L		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	188					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CAAGAGCCTTCTGGCCCCCGG	0.711		NaN											0	0	0	0.004007	0	13	23				
TXNDC5	81567	broad.mit.edu	37	6	7891866	7891866	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7891866G>A	uc003mxv.2	-	5	752	c.720C>T	c.(718-720)GTC>GTT	p.V240V	TXNDC5_uc003mxw.2_Silent_p.V197V|TXNDC5_uc010jnz.2_Silent_p.V132V|TXNDC5_uc010joa.1_Silent_p.V132V	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	240	Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TGCCAATCTTGACAGTTTCGG	0.493		NaN											0	0	0	0.00623	0	35	128				
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:13711709G>T	uc003nbb.2	-	1	88	c.29C>A	c.(28-30)CCG>CAG	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.517		NaN											1	0	0.00448238	0.004482	0.00453746	8	69				
SOX4	6659	broad.mit.edu	37	6	21595158	21595158	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:21595158G>T	uc003ndi.2	+	1	1187	c.393G>T	c.(391-393)AGG>AGT	p.R131S		NM_003107	NP_003098	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity				0	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACCGGCCCAGGAAGAAGGTGA	0.557		NaN											1	0	2.0095e-06	0.001984	2.06271e-06	5	215				
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:24145869G>A	uc010jpq.1	+	4	520	c.283G>A	c.(283-285)GAA>AAA	p.E95K		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0						AGCATTTGGCGAAGCCGATTT	0.507		NaN											0	0	0	0.00361	0	47	208				
HIST1H2BE	8344	broad.mit.edu	37	6	26184245	26184245	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26184245C>T	uc003ngt.2	+	1	222	c.222C>T	c.(220-222)ATC>ATT	p.I74I		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						TCGAGCGCATCGCCGGCGAGG	0.607		NaN											0	0	0	0.00361	0	292	26				
BTN3A1	11119	broad.mit.edu	37	6	26408131	26408131	+	Missense_Mutation	SNP	C	C	G	rs140260146		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26408131C>G	uc003nhv.2	+	4	1034	c.666C>G	c.(664-666)ATC>ATG	p.I222M	BTN3A1_uc011dkj.1_Missense_Mutation_p.I222M|BTN3A1_uc011dkk.1_Missense_Mutation_p.I170M|BTN3A1_uc010jqj.2_Missense_Mutation_p.I222M	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	222	Ig-like V-type 2.|Extracellular (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CCTGTACCATCAGAAGTTCCC	0.557		NaN											0	0	0	0.00361	0	221	16				
BTN1A1	696	broad.mit.edu	37	6	26505305	26505305	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26505305C>G	uc003nif.3	+	3	600	c.580C>G	c.(580-582)CCT>GCT	p.P194A		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	194	Extracellular (Potential).|Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						GTCCAGGAATCCTGATGAAGA	0.502		NaN											0	0	0	0.00361	0	88	6				
HIST1H4I	8294	broad.mit.edu	37	6	27107240	27107240	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:27107240C>G	uc003niy.1	+	1	153	c.153C>G	c.(151-153)ATC>ATG	p.I51M	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CTGGCCTCATCTATGAGGAGA	0.637		NaN	T	BCL6	NHL								0	0	0	0.00361	0	185	141				
BAT2	7916	broad.mit.edu	37	6	31591626	31591626	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:31591626C>T	uc003nvb.3	+	3	479	c.230C>T	c.(229-231)TCA>TTA	p.S77L	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.S77L|BAT2_uc003nve.2_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	77	4 X 57 AA type A repeats.|1-1.					cytoplasm|nucleus	protein binding				0						CCCAATGTCTCACTAGTGCCA	0.547		NaN											0	0	0	0.004656	0	19	89				
PHF1	5252	broad.mit.edu	37	6	33380128	33380128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:33380128C>T	uc003oeh.2	+	2	324	c.88C>T	c.(88-90)CGG>TGG	p.R30W	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R30W|PHF1_uc010jux.2_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	30					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				CCCCAGGCCTCGGCTTTGGGA	0.607		NaN											0	0	0	0.002836	0	28	7				
FGD2	221472	broad.mit.edu	37	6	36982667	36982667	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:36982667G>A	uc010jwp.1	+	8	1054	c.883_splice	c.e8-1	p.E295_splice	FGD2_uc003ong.2_Splice_Site_p.E17_splice|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.E101_splice	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						CAACCCCCTAGGAGCGGCTGC	0.652		NaN											0	0	0	0.007291	0	24	292				
CYP39A1	51302	broad.mit.edu	37	6	46593206	46593206	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46593206C>T	uc003oyf.1	-	7	1084	c.880G>A	c.(880-882)GAT>AAT	p.D294N	CYP39A1_uc011dwa.1_Missense_Mutation_p.D274N|CYP39A1_uc010jzd.1_Missense_Mutation_p.D122N	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	294					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TTGTGGATATCAGGATGAGAA	0.343		NaN											0	0	0	0.00361	0	142	112				
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46682224A>G	uc010jzf.2	-	5	712	c.443T>C	c.(442-444)GTT>GCT	p.V148A	PLA2G7_uc010jzg.1_Missense_Mutation_p.V148A|PLA2G7_uc011dwd.1_Missense_Mutation_p.V103A|PLA2G7_uc011dwe.1_Missense_Mutation_p.V21A	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	148					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368		NaN											0	0	0	0.00361	0	58	477				
KLHL31	401265	broad.mit.edu	37	6	53516582	53516582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516582C>T	uc003pcb.3	-	3	1860	c.1719G>A	c.(1717-1719)TGG>TGA	p.W573*	uc003pcc.1_5'UTR	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	573	Kelch 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					CGCCCTCGTTCCAGCCCCCCA	0.687		NaN											0	0	0	0.004007	0	15	41				
KLHL31	401265	broad.mit.edu	37	6	53516760	53516760	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516760C>G	uc003pcb.3	-	3	1682	c.1541G>C	c.(1540-1542)AGA>ACA	p.R514T	uc003pcc.1_Missense_Mutation_p.S51C	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					CACGTACACTCTGTCGCTCAG	0.716		NaN											0	0	0	0.000602	0	3	10				
DST	667	broad.mit.edu	37	6	56505039	56505039	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56505039G>T	uc003pdf.2	-	17	2321	c.2293C>A	c.(2293-2295)CCC>ACC	p.P765T	DST_uc003pcz.3_Missense_Mutation_p.P587T|DST_uc011dxj.1_Missense_Mutation_p.P616T|DST_uc011dxk.1_Missense_Mutation_p.P627T|DST_uc011dxl.1_Missense_Mutation_p.P616T|DST_uc003pcy.3_Missense_Mutation_p.P261T|DST_uc003pdb.2_Missense_Mutation_p.P261T|DST_uc003pdc.3_Missense_Mutation_p.P261T|DST_uc003pdd.3_Missense_Mutation_p.P261T|DST_uc003pde.2_Missense_Mutation_p.P703T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	587					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGAAGGGGTTTTCGGATC	0.368		NaN											1	0	8.12818e-05	0.001984	8.31751e-05	7	35				
DST	667	broad.mit.edu	37	6	56716381	56716381	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56716381G>C	uc003pdf.2	-	4	467	c.439C>G	c.(439-441)CGC>GGC	p.R147G	DST_uc011dxj.1_Translation_Start_Site|DST_uc011dxk.1_Missense_Mutation_p.R9G|DST_uc011dxl.1_Translation_Start_Site	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAGAGCAGCGATAGGACGCG	0.478		NaN									OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004482	0	6	13				
PHF3	23469	broad.mit.edu	37	6	64416024	64416024	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:64416024C>T	uc003pep.1	+	11	3499	c.3473C>T	c.(3472-3474)GCA>GTA	p.A1158V	PHF3_uc010kah.1_Missense_Mutation_p.A972V|PHF3_uc003pen.2_Missense_Mutation_p.A1070V|PHF3_uc011dxs.1_Missense_Mutation_p.A427V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGCAGATGCATTATCTTCA	0.398		NaN											0	0	0	0.001368	0	12	27				
BAI3	577	broad.mit.edu	37	6	70034888	70034888	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:70034888G>A	uc003pev.3	+	21	3387	c.2939G>A	c.(2938-2940)AGA>AAA	p.R980K	BAI3_uc010kak.2_Missense_Mutation_p.R980K|BAI3_uc011dxx.1_Missense_Mutation_p.R186K|BAI3_uc003pex.1_Missense_Mutation_p.R110K	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	980	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CGGCTTATAAGAAAACGCTTT	0.398		NaN											0	0	0	0.008871	0	17	50				
KCNQ5	56479	broad.mit.edu	37	6	73904395	73904395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:73904395G>A	uc003pgk.2	+	14	2404	c.2057G>A	c.(2056-2058)AGA>AAA	p.R686K	KCNQ5_uc011dyh.1_Missense_Mutation_p.R705K|KCNQ5_uc011dyi.1_Missense_Mutation_p.R696K|KCNQ5_uc010kat.2_Missense_Mutation_p.R677K|KCNQ5_uc011dyj.1_Missense_Mutation_p.R576K|KCNQ5_uc011dyk.1_Missense_Mutation_p.R436K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	686					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AACATCTCGAGAGGCCTGCAG	0.488		NaN											0	0	0	0.00361	0	71	70				
DDX43	55510	broad.mit.edu	37	6	74119057	74119057	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:74119057G>A	uc003pgw.2	+	10	1610	c.1266G>A	c.(1264-1266)CAG>CAA	p.Q422Q		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	422	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CAGATAGGCAGACAGTTATGA	0.383		NaN											0	0	0	0.00361	0	47	138				
LCA5	167691	broad.mit.edu	37	6	80223183	80223183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:80223183C>T	uc003pix.2	-	3	901	c.466G>A	c.(466-468)GAA>AAA	p.E156K	LCA5_uc003piy.2_Missense_Mutation_p.E156K|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.E156K	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	156	Potential.				protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTGAGATTTCATTTTCGGCA	0.378		NaN											0	0	0	0.012319	0	18	16				
SLC35A1	10559	broad.mit.edu	37	6	88210332	88210332	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88210332C>G	uc011dzj.1	+	3	380	c.301C>G	c.(301-303)CAG>GAG	p.Q101E	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.Q101E|SLC35A1_uc010kby.2_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	101	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTATGCTGTTCAGAACAACAT	0.413		NaN											0	0	0	0.004289	0	30	23				
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88299660G>A	uc003pme.2	-	1	76	c.16C>T	c.(16-18)CGC>TGC	p.R6C	ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672		NaN									OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	0	0	0	0.00361	0	45	25				
GJA10	84694	broad.mit.edu	37	6	90605283	90605283	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90605283C>G	uc011eaa.1	+	1	1096	c.1096C>G	c.(1096-1098)CAG>GAG	p.Q366E		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	366	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TACAATGTCTCAGTCCTGGCT	0.552		NaN											0	0	0	0.00361	0	95	65				
BACH2	60468	broad.mit.edu	37	6	90661329	90661329	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90661329C>T	uc011eab.1	-	7	1305	c.496G>A	c.(496-498)GAA>AAA	p.E166K	BACH2_uc003pnw.2_Missense_Mutation_p.E166K|BACH2_uc010kch.2_Missense_Mutation_p.E166K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	166	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCTCCTCTTCATCCTCCTCC	0.612		NaN											0	0	0	0.00361	0	57	41				
ZBTB24	9841	broad.mit.edu	37	6	109802504	109802504	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:109802504C>G	uc003ptl.1	-	2	894	c.726G>C	c.(724-726)AAG>AAC	p.K242N	ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.K242N|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.K242N	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CATCCTCGGTCTTGGGATCAT	0.463		NaN											0	0	0	0.00361	0	55	104				
TUBE1	51175	broad.mit.edu	37	6	112400898	112400898	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400898C>T	uc003pvq.2	-	6	500	c.386G>A	c.(385-387)AGA>AAA	p.R129K	TUBE1_uc003pvr.2_Missense_Mutation_p.R54K	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	129					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGCCGACTTTCTGAATTTCTC	0.368		NaN											0	0	0	0.012319	0	20	28				
TUBE1	51175	broad.mit.edu	37	6	112400906	112400906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400906C>A	uc003pvq.2	-	6	492	c.378G>T	c.(376-378)GAG>GAT	p.E126D	TUBE1_uc003pvr.2_Missense_Mutation_p.E51D	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	126					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCTGAATTTCTCTAAAATCT	0.358		NaN											1	0	1.01871e-10	0.008871	1.06056e-10	20	25				
LAMA4	3910	broad.mit.edu	37	6	112452258	112452258	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112452258C>T	uc003pvu.2	-	29	4189	c.3880G>A	c.(3880-3882)GAT>AAT	p.D1294N	LAMA4_uc003pvv.2_Missense_Mutation_p.D1287N|LAMA4_uc003pvt.2_Missense_Mutation_p.D1287N	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1294	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCTTTACATCCATGATGACA	0.458		NaN											0	0	0	0.005443	0	23	42				
DSE	29940	broad.mit.edu	37	6	116757927	116757927	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:116757927A>C	uc003pws.2	+	6	2490	c.2296A>C	c.(2296-2298)AAC>CAC	p.N766H	DSE_uc011ebg.1_Missense_Mutation_p.N785H|DSE_uc003pwt.2_Missense_Mutation_p.N766H|DSE_uc003pwu.2_Missense_Mutation_p.N433H	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	766					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCGAGTCCGGAACACAGCTAG	0.478		NaN											0	0	0	0.00632	0	24	43				
LAMA2	3908	broad.mit.edu	37	6	129634083	129634083	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:129634083A>T	uc003qbn.2	+	23	3357	c.3252A>T	c.(3250-3252)AAA>AAT	p.K1084N	LAMA2_uc003qbo.2_Missense_Mutation_p.K1084N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1084	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCATCCAAAATTCTCTGGTG	0.473		NaN											0	0	0	0.010729	0	12	18				
HBS1L	10767	broad.mit.edu	37	6	135318567	135318567	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:135318567C>T	uc003qez.2	-	6	974	c.767G>A	c.(766-768)GGA>GAA	p.G256E	HBS1L_uc003qey.2_Missense_Mutation_p.G92E|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.G92E|HBS1L_uc011eda.1_Missense_Mutation_p.G214E	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	256					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCTTCCCTCCTTGCCGCTT	0.542		NaN											0	0	0	0.004878	0	29	57				
MAP3K5	4217	broad.mit.edu	37	6	136882784	136882784	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:136882784C>T	uc003qhc.2	-	28	4236	c.3875_splice	c.e28-1	p.E1292_splice	MAP3K5_uc011edj.1_Splice_Site_p.E539_splice	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase						activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGGAATTTCTAGAACAGAA	0.358		NaN											0	0	0	0.004482	0	9	15				
LRP11	84918	broad.mit.edu	37	6	150174190	150174190	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:150174190G>A	uc003qng.2	-	2	1044	c.720C>T	c.(718-720)ATC>ATT	p.I240I	LRP11_uc003qnh.1_Silent_p.I240I	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	240	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CATACTGGACGATGGCGTGGT	0.562		NaN											0	0	0	0.00361	0	37	32				
SYNE1	23345	broad.mit.edu	37	6	152737832	152737832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152737832G>A	uc010kiw.2	-	41	6342	c.5740C>T	c.(5740-5742)CAA>TAA	p.Q1914*	SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1921*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1914*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1897*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1914	Cytoplasmic (Potential).|Potential.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAGCATTTTGAAGAGCATCA	0.458		NaN								HNSCC(10;0.0054)			0	0	0	0.006214	0	9	21				
SYNE1	23345	broad.mit.edu	37	6	152765587	152765587	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152765587C>T	uc010kiw.2	-	30	4398	c.3796G>A	c.(3796-3798)GAA>AAA	p.E1266K	SYNE1_uc003qot.3_Missense_Mutation_p.E1273K|SYNE1_uc003qou.3_Missense_Mutation_p.E1266K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1249K|SYNE1_uc003qow.2_Missense_Mutation_p.E561K|SYNE1_uc003qox.1_Missense_Mutation_p.E782K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1266	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAGATTTTCAGTATCCAAG	0.368		NaN								HNSCC(10;0.0054)			0	0	0	0.012213	0	25	38				
SYNE1	23345	broad.mit.edu	37	6	152768689	152768689	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152768689C>G	uc010kiw.2	-	29	4175	c.3573G>C	c.(3571-3573)TTG>TTC	p.L1191F	SYNE1_uc003qot.3_Missense_Mutation_p.L1198F|SYNE1_uc003qou.3_Missense_Mutation_p.L1191F|SYNE1_uc010kjb.1_Missense_Mutation_p.L1174F|SYNE1_uc003qow.2_Missense_Mutation_p.L486F|SYNE1_uc003qox.1_Missense_Mutation_p.L707F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1191	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTTCTGTCAAAACTTTCA	0.458		NaN								HNSCC(10;0.0054)			0	0	0	0.009535	0	26	41				
PAPOLB	56903	broad.mit.edu	37	7	4899851	4899851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:4899851C>G	uc003snk.2	-	1	1775	c.1591G>C	c.(1591-1593)GAA>CAA	p.E531Q	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	530					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ATGCTGTTTTCACAGCCTGCA	0.468		NaN											0	0	0	0.00361	0	54	44				
DNAH11	8701	broad.mit.edu	37	7	21840770	21840770	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:21840770C>T	uc003svc.2	+	63	10094	c.10063C>T	c.(10063-10065)CTG>TTG	p.L3355L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3355	Potential.|Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GGATCGAAATCTGAGCAGACT	0.373		NaN							Kartagener_syndrome				0	0	0	0.004672	0	3	10				
MPP6	51678	broad.mit.edu	37	7	24681456	24681456	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:24681456T>G	uc003swx.2	+	4	538	c.239T>G	c.(238-240)TTG>TGG	p.L80W	MPP6_uc003swy.2_Missense_Mutation_p.L80W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	80	L27 2.				protein complex assembly		protein binding				0						GTGGCAGAATTGGTTGGTATA	0.378		NaN											0	0	0	0.00245	0	11	113				
TAX1BP1	8887	broad.mit.edu	37	7	27825064	27825064	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:27825064G>C	uc003szl.2	+	7	966	c.808G>C	c.(808-810)GAA>CAA	p.E270Q	TAX1BP1_uc011jzo.1_Missense_Mutation_p.E270Q|TAX1BP1_uc003szk.2_Missense_Mutation_p.E270Q|TAX1BP1_uc011jzp.1_Missense_Mutation_p.E113Q	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	270	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AGAACAACTTGAATGTCAGTT	0.214		NaN											0	0	0	0.00361	0	45	62				
NT5C3	51251	broad.mit.edu	37	7	33066465	33066465	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33066465G>A	uc003tdk.2	-	2	293	c.216C>T	c.(214-216)ATC>ATT	p.I72I	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.I33I|NT5C3_uc003tdj.2_Silent_p.I33I	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	72					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			TAAGACCACAGATAATTTCTT	0.264		NaN											0	0	0	0.003163	0	13	63				
BBS9	27241	broad.mit.edu	37	7	33644572	33644572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33644572G>A	uc003tdn.1	+	22	3130	c.2617G>A	c.(2617-2619)GAG>AAG	p.E873K	BBS9_uc003tdo.1_Missense_Mutation_p.E838K|BBS9_uc003tdp.1_Missense_Mutation_p.E868K|BBS9_uc003tdq.1_Missense_Mutation_p.E833K|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.E397K|BBS9_uc003tds.1_Missense_Mutation_p.E296K|BBS9_uc003tdt.2_Intron	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	873					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TCTCACTGCAGAGACACCCAG	0.453		NaN							Bardet-Biedl_syndrome				0	0	0	0.004007	0	15	18				
POU6F2	11281	broad.mit.edu	37	7	39500145	39500145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:39500145G>A	uc003thb.1	+	9	1445	c.1403_splice	c.e9-1	p.N468_splice		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CATCTCCACAGATCCTCAAAC	0.453		NaN											0	0	0	0.005443	0	21	27				
BLVRA	644	broad.mit.edu	37	7	43830958	43830958	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:43830958A>G	uc003tir.2	+	4	328	c.245A>G	c.(244-246)GAC>GGC	p.D82G	BLVRA_uc010kxv.2_Missense_Mutation_p.D82G	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	82					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	AGCCATGAGGACTACATCAGG	0.323		NaN											0	0	0	0.00361	0	103	55				
H2AFV	94239	broad.mit.edu	37	7	44880509	44880509	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:44880509G>A	uc003tma.2	-	3	339	c.184C>T	c.(184-186)CTC>TTC	p.L62F	H2AFV_uc003tlz.2_Missense_Mutation_p.L62F|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Missense_Mutation_p.L62F|H2AFV_uc003tmd.2_Missense_Mutation_p.L36F	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	H2A histone family, member V isoform 1	62					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCTGCAGTGAGGTACTCCAGA	0.502		NaN											0	0	0	0.00361	0	86	40				
TBRG4	9238	broad.mit.edu	37	7	45142089	45142089	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:45142089A>C	uc003tmv.2	-	7	1304	c.1178T>G	c.(1177-1179)GTA>GGA	p.V393G	TBRG4_uc003tmu.2_Missense_Mutation_p.V218G|TBRG4_uc003tmw.2_Missense_Mutation_p.V283G|TBRG4_uc003tmx.2_Missense_Mutation_p.V283G|TBRG4_uc011kcd.1_Missense_Mutation_p.V404G	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	393					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CTTCTCATGTACCTGGGCAAG	0.597		NaN											0	0	0	0.003954	0	24	168				
DDC	1644	broad.mit.edu	37	7	50537777	50537777	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50537777G>C	uc003tpf.3	-	12	1220	c.1134C>G	c.(1132-1134)ATC>ATG	p.I378M	DDC_uc010kza.2_Missense_Mutation_p.I293M|DDC_uc003tpg.3_Missense_Mutation_p.I378M	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	378					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACCTTGCGGATATAAGCCT	0.338		NaN											0	0	0	0.009535	0	27	139				
GRB10	2887	broad.mit.edu	37	7	50737442	50737442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50737442G>C	uc003tpi.2	-	4	512	c.481C>G	c.(481-483)CCG>GCG	p.P161A	GRB10_uc003tph.3_Missense_Mutation_p.P103A|GRB10_uc003tpj.2_Missense_Mutation_p.P161A|GRB10_uc003tpk.2_Missense_Mutation_p.P161A|GRB10_uc010kzb.2_Missense_Mutation_p.P103A|GRB10_uc003tpl.2_Missense_Mutation_p.P155A|GRB10_uc003tpm.2_Missense_Mutation_p.P103A|GRB10_uc003tpn.2_Missense_Mutation_p.P103A	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	161					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					GCCTGGCTCGGAGGTAAAGAA	0.592		NaN							Russell-Silver_syndrome				0	0	0	0.00623	0	34	31				
ELN	2006	broad.mit.edu	37	7	73474260	73474260	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73474260C>T	uc003tzw.2	+	23	1568	c.1477C>T	c.(1477-1479)CCT>TCT	p.P493S	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.P487S|ELN_uc003tzz.2_Missense_Mutation_p.P406S|ELN_uc003tzo.2_Missense_Mutation_p.P454S|ELN_uc003tzp.2_Missense_Mutation_p.P398S|ELN_uc003tzq.2_Missense_Mutation_p.P351S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.P468S|ELN_uc003tzt.2_Missense_Mutation_p.P492S|ELN_uc003tzu.2_Missense_Mutation_p.P473S|ELN_uc003tzv.2_Missense_Mutation_p.P458S|ELN_uc003tzx.2_Missense_Mutation_p.P477S|ELN_uc011kff.1_Missense_Mutation_p.P487S|ELN_uc003tzy.2_Missense_Mutation_p.P463S	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	516	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCGTGGCTCCTGGTGTCGG	0.547		NaN	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						0	0	0	0.00361	0	130	179				
FGL2	10875	broad.mit.edu	37	7	76828885	76828885	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:76828885C>G	uc003ugb.2	-	1	266	c.226G>C	c.(226-228)GAG>CAG	p.E76Q	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	76	Potential.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						AACACCTCCTCGATCCTGCTG	0.507		NaN											0	0	0	0.009535	0	27	85				
SEMA3E	9723	broad.mit.edu	37	7	82997265	82997265	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:82997265C>T	uc003uhy.1	-	17	2431	c.1965G>A	c.(1963-1965)CAG>CAA	p.Q655Q		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	655	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GCTCTACTGTCTGGCAAAAAT	0.443		NaN											0	0	0	0.009718	0	38	62				
ADAM22	53616	broad.mit.edu	37	7	87757967	87757967	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:87757967G>C	uc003ujn.2	+	9	808	c.729G>C	c.(727-729)CTG>CTC	p.L243L	ADAM22_uc003uji.1_Silent_p.L242L|ADAM22_uc003ujj.1_Silent_p.L243L|ADAM22_uc003ujk.1_Silent_p.L243L|ADAM22_uc003ujl.1_Silent_p.L243L|ADAM22_uc003ujm.2_Silent_p.L243L|ADAM22_uc003ujo.2_Silent_p.L243L|ADAM22_uc003ujp.1_Silent_p.L295L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	243	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACATTGAACTGATGATTGTGA	0.383		NaN											0	0	0	0.007835	0	31	51				
C7orf64	84060	broad.mit.edu	37	7	92158136	92158136	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:92158136G>A	uc003ulz.2	+	1	50	c.9G>A	c.(7-9)TCG>TCA	p.S3S	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.S3S|C7orf64_uc003uma.2_Silent_p.S3S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	3							nucleotide binding			ovary(2)	2						AGATGGCGTCGAGCGGCGGGG	0.567		NaN											0	0	0	0.003271	0	28	35				
TRRAP	8295	broad.mit.edu	37	7	98522777	98522777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98522777G>A	uc003upp.2	+	22	3075	c.2866G>A	c.(2866-2868)GAG>AAG	p.E956K	TRRAP_uc011kis.1_Missense_Mutation_p.E956K|TRRAP_uc003upr.2_Missense_Mutation_p.E648K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	956					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGCCAACACTGAGCCCTACTA	0.507		NaN											0	0	0	0.00361	0	44	68				
TRRAP	8295	broad.mit.edu	37	7	98534849	98534849	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98534849G>A	uc003upp.2	+	29	4391	c.4182G>A	c.(4180-4182)CTG>CTA	p.L1394L	TRRAP_uc011kis.1_Silent_p.L1394L|TRRAP_uc003upr.2_Silent_p.L1086L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1394					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAAAGCCCTGAATTCCACCA	0.363		NaN											0	0	0	0.00361	0	49	203				
PILRA	29992	broad.mit.edu	37	7	99995535	99995535	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:99995535G>T	uc003uuo.1	+	4	919	c.707G>T	c.(706-708)AGG>ATG	p.R236M	PILRA_uc011kjo.1_Missense_Mutation_p.R163M|PILRA_uc003uup.1_Missense_Mutation_p.R163M|PILRA_uc003uuq.1_Intron	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	236	Cytoplasmic (Potential).				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCCAGCCAGGTGAGTGCTG	0.612		NaN											1	0	4.65686e-17	0.003755	4.98194e-17	32	126				
TFR2	7036	broad.mit.edu	37	7	100231073	100231073	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100231073C>T	uc003uvv.1	-	4	621	c.580G>A	c.(580-582)GAC>AAC	p.D194N	TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.D23N	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	194	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TAGTGCGTGTCGGTCCACACG	0.512		NaN											0	0	0	0.00333	0	20	29				
ZAN	7455	broad.mit.edu	37	7	100363105	100363105	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100363105C>T	uc003uwj.2	+	23	4563	c.4398C>T	c.(4396-4398)TTC>TTT	p.F1466F	ZAN_uc003uwk.2_Silent_p.F1466F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.F43F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1466	TIL 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCGGGCTTCGTCCTCAGTG	0.627		NaN											0	0	0	0.004007	0	16	25				
FEZF1	389549	broad.mit.edu	37	7	121942239	121942239	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:121942239C>T	uc003vkd.2	-	4	1314	c.1240G>A	c.(1240-1242)GAC>AAC	p.D414N	FEZF1_uc003vkc.2_Missense_Mutation_p.D364N|uc010lko.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	414	C2H2-type 6.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						TTCTTGAGGTCAAAGTTCCTG	0.527		NaN											0	0	0	0.010771	0	42	141				
IQUB	154865	broad.mit.edu	37	7	123092843	123092843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:123092843G>C	uc003vkn.2	-	13	2907	c.2330C>G	c.(2329-2331)TCA>TGA	p.S777*	IQUB_uc011kny.1_Nonsense_Mutation_p.S110*|IQUB_uc003vko.2_Nonsense_Mutation_p.S777*|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	777										ovary(3)|large_intestine(1)	4						TGTTGTGTCTGAGTGATACTT	0.398		NaN											0	0	0	0.008871	0	18	19				
RBM28	55131	broad.mit.edu	37	7	127978389	127978389	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:127978389C>T	uc003vmp.2	-	5	571	c.456G>A	c.(454-456)AAG>AAA	p.K152K	RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Silent_p.K99K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	152	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						AACCGCGCATCTTCCCATCTG	0.418		NaN											0	0	0	0.00499	0	14	51				
KIAA1147	57189	broad.mit.edu	37	7	141364706	141364706	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:141364706C>A	uc003vwk.2	-	7	1101	c.1101G>T	c.(1099-1101)CAG>CAT	p.Q367H		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	hypothetical protein LOC57189	367										ovary(1)	1	Melanoma(164;0.0171)					GCCACTACCTCTGCTCGTTGA	0.597		NaN											1	0	9.16793e-09	0.00499	9.48456e-09	11	19				
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:144097329C>T	uc011kue.1	-	5	921	c.921G>A	c.(919-921)CAG>CAA	p.Q307Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307	Homeobox.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552		NaN											0	0	0	0.002836	0	30	60				
NOS3	4846	broad.mit.edu	37	7	150696118	150696118	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150696118G>A	uc003wif.2	+	8	1197	c.901G>A	c.(901-903)GAA>AAA	p.E301K	NOS3_uc011kuy.1_Missense_Mutation_p.E95K|NOS3_uc011kuz.1_Missense_Mutation_p.E301K|NOS3_uc011kva.1_Missense_Mutation_p.E301K|NOS3_uc011kvb.1_Missense_Mutation_p.E301K	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	301	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGATCCCCCAGAACTCTTCCT	0.657		NaN											0	0	0	0.00361	0	44	227				
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714325G>C	uc011kvc.1	-	9	2163	c.2087C>G	c.(2086-2088)TCT>TGT	p.S696C	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	696	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592		NaN											0	0	0	0.00632	0	23	31				
ATG9B	285973	broad.mit.edu	37	7	150714331	150714331	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714331G>A	uc011kvc.1	-	9	2157	c.2081C>T	c.(2080-2082)TCG>TTG	p.S694L	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	694	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAGACAGCGAGGCCTCAGT	0.582		NaN											0	0	0	0.00632	0	24	35				
WDR60	55112	broad.mit.edu	37	7	158672547	158672547	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:158672547C>T	uc003woe.3	+	5	904	c.746C>T	c.(745-747)TCT>TTT	p.S249F	WDR60_uc010lqv.2_RNA	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	249										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AATTCATTCTCTGACAAAGGG	0.398		NaN											0	0	0	0.001368	0	12	11				
NEFM	4741	broad.mit.edu	37	8	24771416	24771416	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:24771416C>T	uc003xed.3	+	1	143	c.110C>T	c.(109-111)TCG>TTG	p.S37L	NEFM_uc011lac.1_Missense_Mutation_p.S37L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	37	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCTTCCGCTCGCAGTCGTGG	0.697		NaN											0	0	0	0.012319	0	17	13				
CHRNA6	8973	broad.mit.edu	37	8	42611280	42611280	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:42611280C>T	uc003xpj.2	-	5	1108	c.1062G>A	c.(1060-1062)CTG>CTA	p.L354L	CHRNA6_uc011lcw.1_Silent_p.L339L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	354	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCCACCTCATCAGCAGGACCT	0.587		NaN											0	0	0	0.00361	0	53	38				
ST18	9705	broad.mit.edu	37	8	53062480	53062480	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53062480G>C	uc003xqz.2	-	11	2020	c.1864C>G	c.(1864-1866)CGA>GGA	p.R622G	ST18_uc011ldq.1_Missense_Mutation_p.R269G|ST18_uc011ldr.1_Missense_Mutation_p.R587G|ST18_uc011lds.1_Missense_Mutation_p.R527G|ST18_uc003xra.2_Missense_Mutation_p.R622G|ST18_uc003xrb.2_Missense_Mutation_p.R622G	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	622						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGATTCGATTTTTTTTC	0.413		NaN											0	0	0	0.00499	0	16	77				
ST18	9705	broad.mit.edu	37	8	53084386	53084386	+	Silent	SNP	G	G	A	rs144551525		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53084386G>A	uc003xqz.2	-	5	1191	c.1035C>T	c.(1033-1035)ATC>ATT	p.I345I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.I310I|ST18_uc011lds.1_Silent_p.I250I|ST18_uc003xra.2_Silent_p.I345I|ST18_uc003xrb.2_Silent_p.I345I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	345						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCCATGTCGATAACTTTGG	0.403		NaN											0	0	0	0.00361	0	37	159				
RP1	6101	broad.mit.edu	37	8	55537511	55537511	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55537511G>A	uc003xsd.1	+	4	1217	c.1069G>A	c.(1069-1071)GGT>AGT	p.G357S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	357					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTAAAACTGGTCCTTCTAA	0.363		NaN											0	0	0	0.00308	0	7	18				
RP1	6101	broad.mit.edu	37	8	55540055	55540055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55540055C>T	uc003xsd.1	+	4	3761	c.3613C>T	c.(3613-3615)CCA>TCA	p.P1205S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1205					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACATGGTTCCAATAGATCT	0.423		NaN											0	0	0	0.002299	0	20	77				
NCOA2	10499	broad.mit.edu	37	8	71036267	71036267	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:71036267C>T	uc003xyn.1	-	21	4307	c.4145G>A	c.(4144-4146)AGC>AAC	p.S1382N	NCOA2_uc011lfb.1_Missense_Mutation_p.S470N	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1382					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGTACATGCTGGTGTTTGC	0.473		NaN	T	RUNXBP2	AML								0	0	0	0.00361	0	40	23				
FAM92A1	137392	broad.mit.edu	37	8	94740514	94740514	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:94740514T>C	uc010maq.2	+	8	962	c.859T>C	c.(859-861)TTT>CTT	p.F287L	FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.F94L	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	287											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGAAGAAAATTTTCTTAAGTA	0.328		NaN											0	0	0	0.010818	0	28	9				
ODF1	4956	broad.mit.edu	37	8	103572771	103572771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572771C>G	uc003ykt.2	+	2	520	c.412C>G	c.(412-414)CAA>GAA	p.Q138E		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	138					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAACCCGATCAAGTCAAAGT	0.448		NaN											0	0	0	0.00361	0	130	55				
ODF1	4956	broad.mit.edu	37	8	103572958	103572958	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572958C>G	uc003ykt.2	+	2	707	c.599C>G	c.(598-600)TCT>TGT	p.S200C		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	200					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGATCGAGTCTCCTTGCTAC	0.343		NaN											0	0	0	0.00361	0	29	19				
ATP6V1C1	528	broad.mit.edu	37	8	104064968	104064968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:104064968C>G	uc003ykz.3	+	6	636	c.391C>G	c.(391-393)CAG>GAG	p.Q131E	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q56E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q131E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q56E	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	131					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGGAGTAACTCAGATTGATAA	0.318		NaN											0	0	0	0.008291	0	9	74				
GSDMC	56169	broad.mit.edu	37	8	130789625	130789625	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:130789625G>C	uc003ysr.2	-	2	1091	c.209C>G	c.(208-210)TCT>TGT	p.S70C		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	70						mitochondrion				ovary(2)|skin(1)	3						TAGGACTGAAGAACTTGGCTC	0.443		NaN											0	0	0	0.010771	0	34	73				
OC90	729330	broad.mit.edu	37	8	133044290	133044290	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133044290C>A	uc003ytg.2	-	11	869	c.869G>T	c.(868-870)AGA>ATA	p.R290I	OC90_uc011lix.1_Missense_Mutation_p.R290I	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	306					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGGTGAATCTGTCACAGGC	0.547		NaN											1	0	1.47857e-17	0.00361	1.58694e-17	41	275				
TMEM71	137835	broad.mit.edu	37	8	133771110	133771110	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133771110G>C	uc003ytp.2	-	2	245	c.16C>G	c.(16-18)CAA>GAA	p.Q6E	TMEM71_uc003ytn.2_Missense_Mutation_p.Q6E|TMEM71_uc003yto.2_Missense_Mutation_p.Q6E	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	6						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GACATCAGTTGAGATATTCGG	0.348		NaN											0	0	0	0.00361	0	50	254				
EPPK1	83481	broad.mit.edu	37	8	144940345	144940345	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144940345C>T	uc003zaa.1	-	2	15100	c.15087G>A	c.(15085-15087)GTG>GTA	p.V5029V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5029	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCACGTCCACGGGCACGC	0.692		NaN											0	0	0	0.009718	0	34	663				
EPPK1	83481	broad.mit.edu	37	8	144943935	144943935	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144943935C>G	uc003zaa.1	-	1	3500	c.3487G>C	c.(3487-3489)GAG>CAG	p.E1163Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1163						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACGTCCTCCAGCAGGCCC	0.672		NaN											0	0	0	0.001168	0	5	23				
HSF1	3297	broad.mit.edu	37	8	145535411	145535411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:145535411C>G	uc003zbt.3	+	8	919	c.749C>G	c.(748-750)TCC>TGC	p.S250C	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	250	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TACAGCAGCTCCAGCCTCTAC	0.692		NaN											0	0	0	0.00361	0	41	163				
KIAA1432	57589	broad.mit.edu	37	9	5772683	5772683	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:5772683G>A	uc003zji.2	+	23	3592	c.3499G>A	c.(3499-3501)GAG>AAG	p.E1167K	KIAA1432_uc003zjl.3_Missense_Mutation_p.E1130K|ERMP1_uc011lme.1_Intron	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1246						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTCAGAGCTGGAGCACATTTC	0.468		NaN											0	0	0	0.008871	0	19	128				
RANBP6	26953	broad.mit.edu	37	9	6015556	6015556	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:6015556C>G	uc003zjr.2	-	1	63	c.52G>C	c.(52-54)GAG>CAG	p.E18Q	RANBP6_uc011lmf.1_Missense_Mutation_p.E18Q|RANBP6_uc003zjs.2_5'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	18					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGGTAAAACTCTTGCTTTTCT	0.552		NaN											0	0	0	0.003755	0	30	304				
KIAA1797	54914	broad.mit.edu	37	9	20946772	20946772	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:20946772G>A	uc003zog.1	+	32	3991	c.3628G>A	c.(3628-3630)GAG>AAG	p.E1210K	KIAA1797_uc003zoh.1_Missense_Mutation_p.E646K	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1210						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TACAGAGGCTGAGGATGTTAT	0.448		NaN											0	0	0	0.00361	0	97	3				
IFNA4	3441	broad.mit.edu	37	9	21186998	21186998	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:21186998G>A	uc003zon.2	-	1	601	c.533C>T	c.(532-534)TCA>TTA	p.S178L		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	178					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTTTGTTGAAAACGAGAG	0.378		NaN											0	0	0	0.00361	0	324	34				
TEK	7010	broad.mit.edu	37	9	27203074	27203074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:27203074C>G	uc003zqi.3	+	13	2608	c.2166C>G	c.(2164-2166)AAC>AAG	p.N722K	TEK_uc011lno.1_Missense_Mutation_p.N679K|TEK_uc011lnp.1_Missense_Mutation_p.N575K|TEK_uc003zqj.1_Missense_Mutation_p.N656K	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	722	Extracellular (Potential).|Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGTCAAGCAACCCAGCCTTTT	0.473		NaN											0	0	0	0.001855	0	10	79				
NOL6	65083	broad.mit.edu	37	9	33466615	33466615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:33466615C>T	uc003zsz.2	-	16	2144	c.2043G>A	c.(2041-2043)CTG>CTA	p.L681L	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L678L|NOL6_uc011lob.1_Silent_p.L629L|NOL6_uc003ztb.1_Silent_p.L681L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	681					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.L681L(1)		ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGACACGGTCAGTGGGAGAC	0.622		NaN									OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	94	71				
GNE	10020	broad.mit.edu	37	9	36246323	36246323	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246323C>G	uc010mlh.2	-	3	536	c.321G>C	c.(319-321)ATG>ATC	p.M107I	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M107I|GNE_uc011lpl.1_Missense_Mutation_p.M48I|GNE_uc010mli.2_Missense_Mutation_p.M138I|GNE_uc010mlj.2_Missense_Mutation_p.M102I	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	107	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CATGAACAATCATGATATCAG	0.522		NaN											0	0	0	0.007413	0	18	108				
GNE	10020	broad.mit.edu	37	9	36246416	36246416	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246416C>G	uc010mlh.2	-	3	443	c.228G>C	c.(226-228)GTG>GTC	p.V76V	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.V76V|GNE_uc011lpl.1_Silent_p.V17V|GNE_uc010mli.2_Silent_p.V107V|GNE_uc010mlj.2_Silent_p.V71V	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	76	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CTTCTCCCCTCACAATTGTGT	0.438		NaN											0	0	0	0.007291	0	24	173				
GNE	10020	broad.mit.edu	37	9	36249349	36249349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36249349C>T	uc010mlh.2	-	2	219	c.4G>A	c.(4-6)GAG>AAG	p.E2K	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.E2K|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.E33K|GNE_uc010mlj.2_Intron	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	2	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CCATTCTTCTCCATGATTTGC	0.353		NaN											0	0	0	0.007413	0	17	134				
DAPK1	1612	broad.mit.edu	37	9	90283556	90283556	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:90283556G>C	uc004apc.2	+	19	2106	c.1968G>C	c.(1966-1968)GAG>GAC	p.E656D	DAPK1_uc004apd.2_Missense_Mutation_p.E656D|DAPK1_uc011ltg.1_Missense_Mutation_p.E656D|DAPK1_uc011lth.1_Missense_Mutation_p.E393D|DAPK1_uc004apf.1_Missense_Mutation_p.E210D	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	656					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AACAGCACGAGCACGTAGCAG	0.428		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	0.00361	0	58	209				
SPTLC1	10558	broad.mit.edu	37	9	94843181	94843181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:94843181G>A	uc004arl.1	-	4	363	c.325C>T	c.(325-327)CTT>TTT	p.L109F	SPTLC1_uc011ltv.1_Missense_Mutation_p.L109F|SPTLC1_uc004arm.1_Missense_Mutation_p.L109F|SPTLC1_uc004arn.1_Missense_Mutation_p.L109F	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	109	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AACAATCCAAGAAAATTAAAT	0.373		NaN											0	0	0	0.008871	0	18	48				
FOXE1	2304	broad.mit.edu	37	9	100616407	100616407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:100616407G>A	uc004axu.2	+	1	871	c.211G>A	c.(211-213)GAG>AAG	p.E71K		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	71	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				GCACGCGCCCGAGCGCCGCCT	0.572		NaN											0	0	0	0.00245	0	12	14				
TMEM38B	55151	broad.mit.edu	37	9	108536171	108536171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:108536171C>T	uc004bcu.1	+	6	803	c.686C>T	c.(685-687)TCT>TTT	p.S229F	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	229	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						ACACAGACTTCTACTATGACA	0.358		NaN											0	0	0	0.009535	0	23	73				
IKBKAP	8518	broad.mit.edu	37	9	111659293	111659293	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:111659293G>T	uc004bdm.3	-	24	3047	c.2527C>A	c.(2527-2529)CAT>AAT	p.H843N	IKBKAP_uc004bdl.2_Missense_Mutation_p.H494N|IKBKAP_uc011lwc.1_Missense_Mutation_p.H729N|IKBKAP_uc010mtq.2_Missense_Mutation_p.H494N	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	843					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TTCTTTACATGAGATGTAAGT	0.433		NaN											1	0	3.8784e-16	0.012319	4.12237e-16	17	76				
ZFP37	7539	broad.mit.edu	37	9	115805645	115805645	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115805645G>A	uc004bgm.1	-	4	1281	c.1253C>T	c.(1252-1254)TCA>TTA	p.S418L	ZFP37_uc011lwz.1_Missense_Mutation_p.S433L|ZFP37_uc011lxa.1_Missense_Mutation_p.S419L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	418	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGTAAGAGATGAGTTATACCT	0.388		NaN											0	0	0	0.00361	0	49	36				
ZFP37	7539	broad.mit.edu	37	9	115806039	115806039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115806039G>A	uc004bgm.1	-	4	887	c.859C>T	c.(859-861)CAA>TAA	p.Q287*	ZFP37_uc011lwz.1_Nonsense_Mutation_p.Q302*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.Q288*	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	287						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ACACAAGCTTGAGGTTTTTCA	0.403		NaN											0	0	0	0.00361	0	61	51				
TRIM32	22954	broad.mit.edu	37	9	119461344	119461344	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:119461344G>A	uc004bjx.2	+	2	1481	c.1323G>A	c.(1321-1323)CTG>CTA	p.L441L	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L441L	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	441	NHL 2.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						GCCAGGGGCTGATTGGTGTGA	0.547		NaN							Bardet-Biedl_syndrome				0	0	0	0.00361	0	63	211				
DAB2IP	153090	broad.mit.edu	37	9	124535708	124535708	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:124535708G>A	uc004bln.2	+	12	2886	c.2817G>A	c.(2815-2817)CTG>CTA	p.L939L	DAB2IP_uc004blo.2_Silent_p.L843L|DAB2IP_uc004blp.2_Silent_p.L372L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	967					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GTACCCGCCTGAGGCAGCAGT	0.657		NaN											0	0	0	0.012319	0	16	8				
LMX1B	4010	broad.mit.edu	37	9	129455807	129455807	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129455807G>C	uc004bqj.2	+	5	727	c.677G>C	c.(676-678)CGA>CCA	p.R226P	LMX1B_uc004bqi.2_Missense_Mutation_p.R226P|LMX1B_uc011maa.1_Missense_Mutation_p.R226P	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	226	Homeobox.		R -> P (in NPS).		dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCCAGGTCCGAGAGACACTG	0.612		NaN							Nail-Patella_Syndrome				0	0	0	0.00361	0	48	39				
RALGPS1	9649	broad.mit.edu	37	9	129728131	129728131	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129728131C>A	uc004bqo.1	+	3	333	c.66C>A	c.(64-66)AGC>AGA	p.S22R	RALGPS1_uc011mab.1_Missense_Mutation_p.S22R|RALGPS1_uc011mac.1_Missense_Mutation_p.S22R|RALGPS1_uc004bqq.3_Missense_Mutation_p.S22R	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	22	Poly-Ser.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						AGGGCAGCAGCAGCTCGGACT	0.542		NaN											1	0	0.000375601	0.00278	0.000383754	19	77				
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129958857G>A	uc004bqo.1	+	13	1409	c.1142G>A	c.(1141-1143)CGA>CAA	p.R381Q	RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CGCAGCCCCCGAAGGGGCCTG	0.577		NaN											0	0	0	0.004878	0	31	75				
GARNL3	84253	broad.mit.edu	37	9	130152935	130152935	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130152935G>T	uc011mae.1	+	27	3160	c.2759G>T	c.(2758-2760)GGT>GTT	p.G920V	GARNL3_uc011mad.1_Missense_Mutation_p.G898V|GARNL3_uc010mxi.2_Missense_Mutation_p.G150V	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	920					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TCGGATGAAGGTGGACCCAAG	0.537		NaN											1	0	2.70572e-37	0.00361	2.94236e-37	79	71				
LRSAM1	90678	broad.mit.edu	37	9	130265177	130265177	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130265177G>A	uc004brb.1	+	26	2516	c.2171G>A	c.(2170-2172)TGA>TAA	p.*724*	LRSAM1_uc010mxk.1_Silent_p.*697*|LRSAM1_uc004brc.1_Silent_p.*724*|LRSAM1_uc004brd.1_Silent_p.*724*|LRSAM1_uc004bre.1_Silent_p.*304*|LRSAM1_uc004brg.1_Silent_p.*155*	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	724					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						CACAGCAGCTGAGTGCTGCCC	0.697		NaN											0	0	0	0.00308	0	8	6				
TTC16	158248	broad.mit.edu	37	9	130489656	130489656	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130489656C>T	uc004brq.1	+	12	1743	c.1676C>T	c.(1675-1677)CCT>CTT	p.P559L	PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.P546L|TTC16_uc004brr.1_Missense_Mutation_p.P409L|TTC16_uc010mxn.1_Missense_Mutation_p.P155L	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	559							binding				0						AAGGCCACCCCTGAGATTCCG	0.493		NaN											0	0	0	0.007413	0	15	11				
SARDH	1757	broad.mit.edu	37	9	136531911	136531911	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:136531911G>A	uc004cep.3	-	20	2711	c.2577C>T	c.(2575-2577)TTC>TTT	p.F859F	SARDH_uc004ceo.2_Silent_p.F859F|SARDH_uc011mdn.1_Silent_p.F859F|SARDH_uc011mdo.1_Silent_p.F691F|SARDH_uc004cen.2_Silent_p.F309F	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	859					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTCGATGGCGAACCCAAAGT	0.597		NaN											0	0	0	0.004672	0	3	11				
KCNT1	57582	broad.mit.edu	37	9	138606490	138606490	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:138606490G>A	uc011mdq.1	+	2	252	c.178G>A	c.(178-180)GAG>AAG	p.E60K	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Intron	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	60						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGACTCCGAGGTGCTGCC	0.716		NaN											0	0	0	0.004656	0	19	39				
C9orf142	286257	broad.mit.edu	37	9	139887394	139887394	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:139887394G>C	uc004cki.2	+	3	224	c.198G>C	c.(196-198)CTG>CTC	p.L66L		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	hypothetical protein LOC286257	66											0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTTTTGGCCTGAGTGCGGCTG	0.662		NaN											0	0	0	0.004878	0	30	130				
BCOR	54880	broad.mit.edu	37	X	39930340	39930340	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:39930340C>T	uc004den.3	-	6	3416	c.3124G>A	c.(3124-3126)GAG>AAG	p.E1042K	BCOR_uc004dep.3_Missense_Mutation_p.E1042K|BCOR_uc004deo.3_Missense_Mutation_p.E1024K|BCOR_uc004dem.3_Missense_Mutation_p.E1042K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1042					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTGCACATCTCGGAGTCTTTG	0.488		NaN											0	0	0	0.009535	0	30	2				
CHST7	56548	broad.mit.edu	37	X	46434158	46434158	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:46434158G>A	uc004dgt.2	+	1	967	c.792G>A	c.(790-792)TTG>TTA	p.L264L		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	264	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						TGCCCCTGTTGCGTGATCCAG	0.657		NaN											0	0	0	0.004672	0	3	12				
ITIH5L	347365	broad.mit.edu	37	X	54783526	54783526	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:54783526G>T	uc004dtj.2	-	8	3011	c.2981C>A	c.(2980-2982)CCT>CAT	p.P994H		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	994	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GATGGCCTCAGGGAGGATGCT	0.547		NaN											1	0	1.00905e-13	0.008871	1.06394e-13	18	22				
ITGB1BP2	26548	broad.mit.edu	37	X	70521663	70521663	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:70521663C>G	uc004dzr.1	+	1	36	c.7C>G	c.(7-9)CTA>GTA	p.L3V	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	3					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					TTCCATGTCTCTACTCTGTCG	0.507		NaN											0	0	0	0.00361	0	46	1				
SLC16A2	6567	broad.mit.edu	37	X	73745728	73745728	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:73745728G>T	uc004ebt.2	+	4	1558	c.1392G>T	c.(1390-1392)CAG>CAT	p.Q464H	SLC16A2_uc010nlr.1_Missense_Mutation_p.Q139H	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	390	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	TCTACTTGCAGGTGAGTGTGA	0.488		NaN											1	0	1.50039e-11	0.012319	1.56697e-11	20	23				
CSTF2	1478	broad.mit.edu	37	X	100088252	100088252	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:100088252G>A	uc004egh.2	+	11	1349	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	CSTF2_uc010nnd.2_Missense_Mutation_p.E451K|CSTF2_uc004egi.2_Missense_Mutation_p.E414K	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	431	5; approximate.|12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						CAGAGGATTAGAGGCCCGTGC	0.587		NaN											0	0	0	0.00499	0	14	3				
ARMCX5	64860	broad.mit.edu	37	X	101857861	101857861	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:101857861G>C	uc004ejg.2	+	6	1673	c.792G>C	c.(790-792)TTG>TTC	p.L264F	ARMCX5_uc004ejh.2_Missense_Mutation_p.L264F	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	264							binding			ovary(1)	1						TTCGACCTTTGACCAAGATCC	0.483		NaN											0	0	0	0.007835	0	30	52				
H2BFWT	158983	broad.mit.edu	37	X	103267744	103267744	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:103267744G>C	uc004elr.2	-	1	513	c.489C>G	c.(487-489)CTC>CTG	p.L163L		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	163					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						TGGTGTACCTGAGGACAGCCT	0.632		NaN											0	0	0	0.005524	0	34	7				
GPR101	83550	broad.mit.edu	37	X	136112978	136112978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:136112978C>A	uc011mwh.1	-	1	856	c.856G>T	c.(856-858)GCC>TCC	p.A286S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCTTGGCCTTCAGGCTG	0.612		NaN											1	0	7.28744e-38	0.00361	7.93789e-38	89	77				
PLXNB3	5365	broad.mit.edu	37	X	153044065	153044065	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:153044065C>G	uc004fii.2	+	35	5735	c.5561C>G	c.(5560-5562)TCT>TGT	p.S1854C	PLXNB3_uc010nuk.2_Missense_Mutation_p.S1877C|PLXNB3_uc011mzd.1_Missense_Mutation_p.S1493C|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1854	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACTACACTTCTGCTCCCCAC	0.612		NaN											0	0	0	0.000602	0	4	8				
GLTPD1	80772	broad.mit.edu	37	1	1262754	1262754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:1262754G>A	uc001aeo.2	+	3	671	c.256G>A	c.(256-258)GAG>AAG	p.E86K	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	86						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCCACGAGCTGAGCAA	0.706		NaN											0	0	0	0.000602	0	5	15				
PRAMEF12	390999	broad.mit.edu	37	1	12835183	12835183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:12835183C>T	uc001aui.2	+	1	200	c.173C>T	c.(172-174)GCC>GTC	p.A58V		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	58										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTGCAGGCCTGGCCCTTC	0.577		NaN											0	0	0	0.00499	0	17	76				
UBR4	23352	broad.mit.edu	37	1	19473366	19473366	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:19473366G>T	uc001bbi.2	-	52	7762	c.7758C>A	c.(7756-7758)AAC>AAA	p.N2586K	UBR4_uc001bbk.1_Missense_Mutation_p.N240K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2586					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGACAAGGTTGTTGGGGCGCA	0.517		NaN											1	0	9.86323e-18	0.003954	1.13853e-17	25	155				
GRIK3	2899	broad.mit.edu	37	1	37271789	37271789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:37271789C>A	uc001caz.2	-	14	2365	c.2230G>T	c.(2230-2232)GAG>TAG	p.E744*	GRIK3_uc001cba.1_Nonsense_Mutation_p.E744*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	744	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGACGTACTCGATGGTGGTG	0.637		NaN											1	0	1.66031e-10	0.003954	1.83714e-10	21	34				
RLF	6018	broad.mit.edu	37	1	40704314	40704314	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:40704314C>A	uc001cfc.3	+	8	3971	c.3940C>A	c.(3940-3942)CAT>AAT	p.H1314N	RLF_uc001cfd.3_Missense_Mutation_p.H1005N	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1314	C2H2-type 10.				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATTGTATTCATAAAACTTG	0.368		NaN											1	0	1.12685e-05	0.004482	1.17721e-05	8	37				
TNNI3K	51086	broad.mit.edu	37	1	74801782	74801782	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:74801782G>C	uc001dgf.1	+	7	682	c.631G>C	c.(631-633)GGA>CGA	p.G211R	TNNI3K_uc001dgc.1_Missense_Mutation_p.G312R|TNNI3K_uc001dgd.2_Missense_Mutation_p.G312R|TNNI3K_uc001dge.1_Missense_Mutation_p.G312R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	211	ANK 5.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTGCAAAAGGATTCTTGAA	0.358		NaN											0	0	0	0.014323	0	23	41				
RPF1	80135	broad.mit.edu	37	1	84944970	84944970	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:84944970G>T	uc001djv.3	+	1	51	c.6G>T	c.(4-6)GCG>GCT	p.A2A		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	RNA processing factor 1	2					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding				0						AGACCATGGCGAAAGCCGGGG	0.552		NaN											1	0	1.61879e-10	0.013537	1.80187e-10	11	19				
RPL5	6125	broad.mit.edu	37	1	93300335	93300335	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:93300335G>A	uc001doz.2	+	4	268	c.190_splice	c.e4-1	p.I64_splice	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.I14_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5						endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCTTACTATAGATTGCTTATG	0.388		NaN											0	0	0	0.01441	0	67	80				
MYBPHL	343263	broad.mit.edu	37	1	109838858	109838858	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:109838858G>A	uc001dxk.1	-	6	915	c.865C>T	c.(865-867)CGG>TGG	p.R289W	MYBPHL_uc010ovh.1_Missense_Mutation_p.R266W|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	289	Ig-like C2-type 2.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCACTCACCCGGGGAGAGGCG	0.562		NaN											0	0	0	0.009718	0	43	102				
SPAG17	200162	broad.mit.edu	37	1	118623868	118623868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:118623868G>C	uc001ehk.2	-	15	2133	c.2065C>G	c.(2065-2067)CGA>GGA	p.R689G		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	689						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAGGTTCTCGGTTGCTTTCA	0.363		NaN											0	0	0	0.00333	0	22	126				
ANKRD35	148741	broad.mit.edu	37	1	145563013	145563013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:145563013C>T	uc001eob.1	+	10	2809	c.2701C>T	c.(2701-2703)CGC>TGC	p.R901C	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R744C	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	901	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCGGGGGCGCTCCGAGCA	0.667		NaN											0	0	0	0.004482	0	9	36				
GPR89B	51463	broad.mit.edu	37	1	147400669	147400669	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:147400669C>G	uc001epv.3	+	1	164	c.20C>G	c.(19-21)TCC>TGC	p.S7C	GPR89B_uc010ozs.1_Missense_Mutation_p.S7C|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	7	Helical; (Potential).				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(923;0.0276)					CTGATCGACTCCAGCATCATG	0.662		NaN											0	0	0	0.005443	0	24	58				
HIST2H2AC	8338	broad.mit.edu	37	1	149858559	149858559	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:149858559G>T	uc001etd.2	+	1	35	c.35G>T	c.(34-36)CGC>CTC	p.R12L	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582		NaN											1	0	3.76054e-38	0.01441	4.5369e-38	74	111				
ATP1A4	480	broad.mit.edu	37	1	160143967	160143967	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143967G>C	uc001fve.3	+	14	2537	c.2058G>C	c.(2056-2058)CAG>CAC	p.Q686H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q189H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	686	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			agcttgatcagatcctccaga	0.199		NaN											0	0	0	0.012319	0	18	70				
ATP1A4	480	broad.mit.edu	37	1	160143998	160143998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143998G>C	uc001fve.3	+	14	2568	c.2089G>C	c.(2089-2091)GCT>CCT	p.A697P	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.A200P	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	697	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gatcgtgtttgctcgGACCTC	0.264		NaN											0	0	0	0.006122	0	16	79				
ATP1A4	480	broad.mit.edu	37	1	160146388	160146388	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160146388G>C	uc001fve.3	+	17	3065	c.2586G>C	c.(2584-2586)CAG>CAC	p.Q862H	ATP1A4_uc001fvf.3_Intron|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q365H|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	862	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTATGGACAGATTGGTGCGC	0.527		NaN											0	0	0	0.00499	0	15	45				
HSPA6	3310	broad.mit.edu	37	1	161495361	161495361	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:161495361G>C	uc001gap.2	+	2	1573	c.913G>C	c.(913-915)GAG>CAG	p.E305Q	HSPA6_uc001gaq.2_Missense_Mutation_p.E305Q	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	305					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCGCTTTGAGGAACTGTG	0.627		NaN											0	0	0	0.010504	0	20	19				
ZBTB37	84614	broad.mit.edu	37	1	173839474	173839474	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:173839474T>G	uc009wwp.1	+	3	387	c.111T>G	c.(109-111)AAT>AAG	p.N37K	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.N37K|ZBTB37_uc001gjq.3_Missense_Mutation_p.N37K|ZBTB37_uc001gjr.2_Missense_Mutation_p.N37K	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	37	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGTGGTCAATGTGCAAGGAC	0.507		NaN											0	0	0	0.004878	0	39	92				
HMCN1	83872	broad.mit.edu	37	1	185987360	185987360	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:185987360G>C	uc001grq.1	+	34	5575	c.5346G>C	c.(5344-5346)AAG>AAC	p.K1782N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1782	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATGGATTCAAGATTTTATTAA	0.398		NaN											0	0	0	0.008361	0	30	90				
CFHR5	81494	broad.mit.edu	37	1	196967415	196967415	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:196967415T>A	uc001gts.3	+	7	1256	c.1128T>A	c.(1126-1128)AAT>AAA	p.N376K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	376	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						GGAAATGGAATCCTGAAGTAG	0.294		NaN											0	0	0	0.013537	0	10	29				
ZP4	57829	broad.mit.edu	37	1	238048117	238048117	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:238048117G>T	uc001hym.2	-	10	1342	c.1342C>A	c.(1342-1344)CAG>AAG	p.Q448K	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	448	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGCAGGCTGGCAGACTGAC	0.498		NaN											1	0	2.74318e-10	0.006214	3.0175e-10	9	23				
OR2T12	127064	broad.mit.edu	37	1	248458286	248458286	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248458286T>A	uc010pzj.1	-	1	595	c.595A>T	c.(595-597)ATC>TTC	p.I199F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACACAGCAGATGTACATGGCG	0.537		NaN											0	0	0	0.004007	0	15	79				
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248685648G>A	uc001ien.1	+	1	701	c.701G>A	c.(700-702)CGC>CAC	p.R234H		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473		NaN											0	0	0	0.008871	0	21	58				
SLC39A12	221074	broad.mit.edu	37	10	18292239	18292239	+	Silent	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:18292239C>A	uc001ipo.2	+	12	2172	c.1899C>A	c.(1897-1899)ATC>ATA	p.I633I	SLC39A12_uc001ipn.2_Silent_p.I596I|SLC39A12_uc001ipp.2_Silent_p.I632I|SLC39A12_uc010qck.1_Silent_p.I499I|uc001ipq.1_RNA	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	633	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						AAGACTGGATCTTCACAGTCA	0.393		NaN											1	0	1.13049e-35	0.01441	1.35514e-35	93	112				
WAPAL	23063	broad.mit.edu	37	10	88259960	88259960	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:88259960C>A	uc001kdo.2	-	3	1482	c.1040G>T	c.(1039-1041)AGT>ATT	p.S347I	WAPAL_uc001kdn.2_Missense_Mutation_p.S390I|WAPAL_uc009xsw.2_Missense_Mutation_p.S347I	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	347	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						CCCTCTAAAACTGGTCCCACA	0.463		NaN											1	0	7.88023e-25	0.01441	9.21002e-25	45	48				
OR51M1	390059	broad.mit.edu	37	11	5410829	5410829	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:5410829G>T	uc010qzc.1	+	1	201	c.201G>T	c.(199-201)CTG>CTT	p.L67L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	67						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTCGTCTGCACACACCCA	0.463		NaN											1	0	1.33834e-09	0.007413	1.46356e-09	20	75				
DBX1	120237	broad.mit.edu	37	11	20178183	20178183	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:20178183C>T	uc001mpw.1	-	4	726	c.726G>A	c.(724-726)GCG>GCA	p.A242A		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCGGGGGACGCACGGGGGC	0.622		NaN											0	0	0	0.007413	0	19	18				
OR4P4	81300	broad.mit.edu	37	11	55406051	55406051	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55406051C>T	uc010rij.1	+	1	218	c.218C>T	c.(217-219)TCC>TTC	p.S73F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGCTACACATCCACAGTGACC	0.398		NaN											0	0	0	0.01441	0	49	99				
OR5W2	390148	broad.mit.edu	37	11	55681672	55681672	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55681672G>T	uc010rir.1	-	1	387	c.387C>A	c.(385-387)CCC>CCA	p.P129P		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TATAGAGCAGGGGGTTGATGA	0.463		NaN											1	0	2.20262e-25	0.013726	2.5905e-25	34	47				
MPEG1	219972	broad.mit.edu	37	11	58979792	58979792	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:58979792C>G	uc001nnu.3	-	1	703	c.547G>C	c.(547-549)GAG>CAG	p.E183Q		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	183	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				TGGTTGTTCTCTAGACGGTCA	0.507		NaN											0	0	0	0.004289	0	36	90				
RASGRP2	10235	broad.mit.edu	37	11	64494818	64494818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64494818C>A	uc009ypu.2	-	16	2013	c.1786G>T	c.(1786-1788)GAG>TAG	p.E596*	RASGRP2_uc001oat.2_Nonsense_Mutation_p.E499*|RASGRP2_uc001oau.2_Nonsense_Mutation_p.E452*|RASGRP2_uc009ypv.2_Nonsense_Mutation_p.E596*|RASGRP2_uc009ypw.2_Nonsense_Mutation_p.E596*	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	596					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						GTCTGTACCTCCTCCTCACGG	0.597		NaN											1	0	3.09899e-07	0.004482	3.36925e-07	9	49				
PYGM	5837	broad.mit.edu	37	11	64519519	64519519	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64519519A>G	uc001oax.3	-	14	2462	c.1645T>C	c.(1645-1647)TAC>CAC	p.Y549H	PYGM_uc001oay.3_Missense_Mutation_p.Y461H	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	549					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CTCTCTAGGTAGGCAGCAAAC	0.517		NaN											0	0	0	0.01441	0	50	118				
PCNXL3	399909	broad.mit.edu	37	11	65392689	65392689	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:65392689T>C	uc001oey.2	+	17	2967	c.2967T>C	c.(2965-2967)TGT>TGC	p.C989C	PCNXL3_uc009yqn.2_5'UTR|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	989	Helical; (Potential).					integral to membrane					0						CAGTCTTCTGTGGCCTCCTGG	0.642		NaN											0	0	0	0.004482	0	7	16				
BUD13	84811	broad.mit.edu	37	11	116628530	116628531	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:116628530_116628531CC>AA	uc001ppn.2	-	8	1669_1670	c.1635_1636GG>TT	c.(1633-1638)ATGGCC>ATTTCC	p.545_546MA>IS	BUD13_uc001ppo.2_Missense_Mutation_p.411_412MA>IS	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	545_546										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGAAGTTGGCCATAGGGTCCC	0.45		NaN											0	0	0	0.004672	0	89	153				
OPCML	4978	broad.mit.edu	37	11	132307139	132307139	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:132307139C>T	uc001qgs.2	-	4	691	c.641G>A	c.(640-642)CGG>CAG	p.R214Q	OPCML_uc001qgu.2_Missense_Mutation_p.R207Q|OPCML_uc010sck.1_Missense_Mutation_p.R214Q|OPCML_uc001qgt.2_Missense_Mutation_p.R213Q|OPCML_uc010scl.1_Missense_Mutation_p.R173Q	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	214	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTACTTTCCGCACATCGGG	0.542		NaN											0	0	0	0.008871	0	16	68				
ABCD2	225	broad.mit.edu	37	12	40013068	40013068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:40013068C>T	uc001rmb.2	-	1	776	c.350G>A	c.(349-351)AGA>AAA	p.R117K		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	117	ABC transmembrane type-1.|Interaction with PEX19.|Helical; (Potential).				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						AAGAAAGGTTCTTGAGATTAG	0.413		NaN											0	0	0	0.012319	0	23	62				
KSR2	283455	broad.mit.edu	37	12	117914394	117914394	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:117914394C>T	uc001two.2	-	17	2425	c.2370G>A	c.(2368-2370)GAG>GAA	p.E790E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	819	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGTTTGTCCTCCCGCCTGG	0.602		NaN											0	0	0	0.009096	0	3	7				
CLIP1	6249	broad.mit.edu	37	12	122818658	122818658	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:122818658C>T	uc001ucg.1	-	13	2733	c.2627_splice	c.e13-1	p.E876_splice	CLIP1_uc001uch.1_Splice_Site_p.E865_splice|CLIP1_uc001uci.1_Splice_Site_p.E830_splice|CLIP1_uc001ucj.1_Splice_Site_p.E451_splice	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTACAGTTTCTATTTAGGAT	0.343		NaN											0	0	0	0.000602	0	5	17				
DNAH10	196385	broad.mit.edu	37	12	124265822	124265822	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124265822C>G	uc001uft.3	+	6	659	c.634C>G	c.(634-636)CAA>GAA	p.Q212E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	212	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGTAATATTCAAAGAACCAT	0.313		NaN											0	0	0	0.01441	0	68	100				
DNAH10	196385	broad.mit.edu	37	12	124359912	124359912	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124359912G>A	uc001uft.3	+	46	7744	c.7719G>A	c.(7717-7719)AAG>AAA	p.K2573K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2573	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAATGGGAAAGGCTGGAGGAG	0.438		NaN											0	0	0	0.001984	0	7	32				
ARHGEF7	8874	broad.mit.edu	37	13	111929950	111929950	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr13:111929950A>C	uc001vrs.2	+	14	1749	c.1499A>C	c.(1498-1500)TAT>TCT	p.Y500S	ARHGEF7_uc001vrr.2_Missense_Mutation_p.Y479S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.Y450S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.Y322S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.Y397S|ARHGEF7_uc010tjp.1_Missense_Mutation_p.Y244S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	500	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AATGAAAGATATCTTCTACTC	0.279		NaN											0	0	0	0.004656	0	25	44				
OR4M1	441670	broad.mit.edu	37	14	20249177	20249177	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:20249177T>A	uc010tku.1	+	1	696	c.696T>A	c.(694-696)GGT>GGA	p.G232G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGCTCAGGTGAGAATACCA	0.463		NaN											0	0	0	0.01441	0	61	167				
NUBPL	80224	broad.mit.edu	37	14	32315779	32315779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:32315779C>T	uc001wrk.3	+	9	851	c.796C>T	c.(796-798)CTT>TTT	p.L266F	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.L170F	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	266					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AGCACAGACCCTTGGTCTTGA	0.428		NaN											0	0	0	0.001168	0	6	12				
STOML1	9399	broad.mit.edu	37	15	74281034	74281034	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:74281034C>T	uc002awe.2	-	4	571	c.500G>A	c.(499-501)CGC>CAC	p.R167H	STOML1_uc002awf.2_Missense_Mutation_p.R167H|STOML1_uc010bje.2_Missense_Mutation_p.R167H|STOML1_uc010uld.1_Missense_Mutation_p.R125H|STOML1_uc002awh.2_Missense_Mutation_p.R117H|STOML1_uc002awg.2_Missense_Mutation_p.R117H|STOML1_uc002awi.2_Missense_Mutation_p.R80H	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	167	Cytoplasmic (Potential).					integral to membrane	sterol binding			skin(1)	1						GGCTGTCATGCGTGTGGCTGT	0.602		NaN											0	0	0	0.007835	0	43	34				
SRRM2	23524	broad.mit.edu	37	16	2813316	2813316	+	Silent	SNP	C	C	T	rs137907192	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:2813316C>T	uc002crk.2	+	11	3336	c.2787C>T	c.(2785-2787)AGC>AGT	p.S929S	SRRM2_uc002crj.1_Silent_p.S833S|SRRM2_uc002crl.1_Silent_p.S929S|SRRM2_uc010bsu.1_Silent_p.S833S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	929	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GACAAAGAAGCCATTCTGGCT	0.493		NaN											0	0	0	0.001984	0	6	93				
A2BP1	54715	broad.mit.edu	37	16	7645613	7645613	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:7645613C>T	uc002cys.2	+	8	1519	c.531C>T	c.(529-531)CAC>CAT	p.H177H	A2BP1_uc010buf.1_Silent_p.H177H|A2BP1_uc002cyr.1_Silent_p.H176H|A2BP1_uc002cyt.2_Silent_p.H177H|A2BP1_uc010uxz.1_Silent_p.H220H|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.H177H|A2BP1_uc010uyb.1_Silent_p.H177H|A2BP1_uc002cyw.2_Silent_p.H197H|A2BP1_uc002cyy.2_Silent_p.H197H|A2BP1_uc002cyx.2_Silent_p.H197H|A2BP1_uc010uyc.1_Silent_p.H197H	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	177	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AGAAATTACACGGCACCGTGG	0.448		NaN											0	0	0	0.00333	0	23	92				
DNAH3	55567	broad.mit.edu	37	16	21061283	21061283	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:21061283C>T	uc010vbe.1	-	30	4295	c.4295G>A	c.(4294-4296)GGG>GAG	p.G1432E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1432	ATP (Potential).|AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTGCCAGTCCCAGCTGGACC	0.522		NaN											0	0	0	0.001855	0	13	67				
SHCBP1	79801	broad.mit.edu	37	16	46638001	46638001	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:46638001G>T	uc002eec.3	-	7	1018	c.978C>A	c.(976-978)TCC>TCA	p.S326S		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	326										ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCTGACCGCTGGAACGGACAC	0.493		NaN											1	0	4.4004e-07	0.00333	4.72917e-07	25	92				
CNOT1	23019	broad.mit.edu	37	16	58620581	58620581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:58620581G>A	uc002env.2	-	7	798	c.505C>T	c.(505-507)CAA>TAA	p.Q169*	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q169*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q169*|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	169					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACCTTCTTGATTTCCACTG	0.473		NaN											0	0	0	0.01441	0	119	165				
WWOX	51741	broad.mit.edu	37	16	78198152	78198152	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:78198152C>T	uc002ffk.2	+	5	607	c.482C>T	c.(481-483)GCG>GTG	p.A161V	WWOX_uc010vnk.1_Missense_Mutation_p.A48V|WWOX_uc002ffl.2_Missense_Mutation_p.A161V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.A161V	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	161	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGGCAAGGGCGAGTGAAGCA	0.448		NaN											0	0	0	0.000602	0	4	28				
SMYD4	114826	broad.mit.edu	37	17	1690224	1690224	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:1690224C>A	uc002ftm.3	-	7	1932	c.1764G>T	c.(1762-1764)AAG>AAT	p.K588N	SMYD4_uc002ftn.1_Missense_Mutation_p.K443N	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	588							zinc ion binding			skin(3)|kidney(2)	5						GAGACCTCAGCTTCTGCTGCC	0.542		NaN											1	0	1.49906e-05	0.00245	1.55736e-05	13	18				
CCDC42	146849	broad.mit.edu	37	17	8638796	8638796	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:8638796T>C	uc002gln.2	-	5	853	c.626A>G	c.(625-627)GAA>GGA	p.E209G	CCDC42_uc002glo.2_Intron	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	209	Potential.			Missing (in Ref. 2; AAH29224).						ovary(1)	1						ATCATCCTTTTCCTCCATGTA	0.562		NaN											0	0	0	0.00308	0	8	35				
BRIP1	83990	broad.mit.edu	37	17	59821938	59821938	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:59821938T>C	uc002izk.1	-	15	2253	c.2112A>G	c.(2110-2112)TTA>TTG	p.L704L	BRIP1_uc002izl.1_Silent_p.L85L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	704					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						AACGTTCTTTTAATTTTTCTA	0.308		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.01441	0	66	108				
PTPN2	5771	broad.mit.edu	37	18	12794331	12794331	+	Silent	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:12794331A>T	uc002krp.2	-	9	1388	c.1194T>A	c.(1192-1194)ATT>ATA	p.I398I	PTPN2_uc002krl.2_Intron|PTPN2_uc002krn.2_Intron|PTPN2_uc002kro.2_Intron|PTPN2_uc002krm.2_Intron	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	398					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				CGCCAACCAAAATGACTGACA	0.398		NaN											0	0	0	0.012319	0	20	79				
WDR7	23335	broad.mit.edu	37	18	54694285	54694285	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:54694285G>A	uc002lgk.1	+	28	4531	c.4320G>A	c.(4318-4320)CAG>CAA	p.Q1440Q	WDR7_uc002lgl.1_Silent_p.Q1407Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1440										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCACCTCAGCTGCGCTGCA	0.607		NaN											0	0	0	0.007835	0	41	32				
GALR1	2587	broad.mit.edu	37	18	74980672	74980672	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:74980672C>T	uc002lms.3	+	3	1361	c.864C>T	c.(862-864)GCC>GCT	p.A288A		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	288	Helical; Name=7; (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAATCACCGCCCACTGCCTGG	0.493		NaN											0	0	0	0.01441	0	49	28				
AP3D1	8943	broad.mit.edu	37	19	2121015	2121015	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:2121015C>A	uc002luz.2	-	14	1550	c.1327G>T	c.(1327-1329)GAC>TAC	p.D443Y	AP3D1_uc002luy.2_Missense_Mutation_p.D352Y|AP3D1_uc002lva.2_Missense_Mutation_p.D443Y	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	443	HEAT 9.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCACGTCCAGCATTTGG	0.652		NaN											1	0	4.3838e-07	0.001855	4.72917e-07	12	50				
FBN3	84467	broad.mit.edu	37	19	8161817	8161817	+	Silent	SNP	G	G	A	rs138081025		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:8161817G>A	uc002mjf.2	-	42	5382	c.5361C>T	c.(5359-5361)TAC>TAT	p.Y1787Y		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1787	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ACTTGCAGCGGTAGCTACCGG	0.607		NaN											0	0	0	0.00278	0	25	55				
GATAD2A	54815	broad.mit.edu	37	19	19612809	19612809	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:19612809G>A	uc010xqt.1	+	10	1844	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H	GATAD2A_uc010xqu.1_Missense_Mutation_p.R140H|GATAD2A_uc010xqv.1_Missense_Mutation_p.R531H|GATAD2A_uc010xqw.1_Intron	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	511					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTGGCGTTCCGCTCAGGAGAG	0.667		NaN											0	0	0	0.012319	0	18	69				
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:30934886C>A	uc002nsu.1	+	2	555	c.417C>A	c.(415-417)TTC>TTA	p.F139L	ZNF536_uc010edd.1_Missense_Mutation_p.F139L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	139	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637		NaN											1	0	4.87955e-14	0.005443	5.59802e-14	25	67				
TSHZ3	57616	broad.mit.edu	37	19	31769796	31769796	+	Silent	SNP	T	T	C	rs61747216	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:31769796T>C	uc002nsy.3	-	2	968	c.903A>G	c.(901-903)CAA>CAG	p.Q301Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	301					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GAGGCACTTTTTGGTAGTGTT	0.537		NaN											0	0	0	0.009718	0	44	96				
TTC9B	148014	broad.mit.edu	37	19	40722099	40722099	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:40722099C>T	uc002onc.2	-	3	709	c.691G>A	c.(691-693)GGG>AGG	p.G231R		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	231							binding				0						GTCTGGGACCCAGCCCCACTG	0.597		NaN											0	0	0	0.003271	0	32	63				
ZNF574	64763	broad.mit.edu	37	19	42583136	42583136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:42583136C>G	uc002osm.3	+	2	547	c.378C>G	c.(376-378)TAC>TAG	p.Y126*	ZNF574_uc002osk.3_Nonsense_Mutation_p.Y216*	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	126	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CCATCCACTACGAGTGTGTGG	0.632		NaN											0	0	0	0.00278	0	25	80				
IZUMO1	284359	broad.mit.edu	37	19	49248950	49248950	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:49248950C>A	uc002pkj.2	-	2	715	c.167G>T	c.(166-168)AGG>ATG	p.R56M	IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	56	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATTCTCTACCCTTTCCATCAT	0.552		NaN											1	0	6.1244e-12	0.007835	6.94099e-12	41	106				
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:50370414A>G	uc002pqh.2	-	1	100	c.48T>C	c.(46-48)CCT>CCC	p.P16P	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721		NaN						Other_BER_factors					0	0	0	0.001855	0	12	39				
SHANK1	50944	broad.mit.edu	37	19	51171701	51171701	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:51171701G>A	uc002psx.1	-	22	3535	c.3516C>T	c.(3514-3516)AGC>AGT	p.S1172S	SHANK1_uc002psw.1_Silent_p.S556S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1172					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCTGCCCTGGCTGCTGCGGC	0.522		NaN											0	0	0	0.004007	0	11	15				
PXDN	7837	broad.mit.edu	37	2	1652948	1652948	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:1652948C>T	uc002qxa.2	-	17	2668	c.2604G>A	c.(2602-2604)CGG>CGA	p.R868R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	868					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCTCCTGGCCCGGGAGTCAT	0.662		NaN											0	0	0	0.010729	0	10	21				
TTC15	51112	broad.mit.edu	37	2	3425691	3425691	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:3425691C>T	uc002qxm.1	+	4	1410	c.1204C>T	c.(1204-1206)CGT>TGT	p.R402C	TTC15_uc002qxn.1_Missense_Mutation_p.R402C|TTC15_uc010ewm.1_Missense_Mutation_p.R402C	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	402							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CCTGTGCGGACGTCTCCTCAC	0.587		NaN											0	0	0	0.006214	0	9	22				
C2orf86	51057	broad.mit.edu	37	2	63660991	63660991	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:63660991A>G	uc002sch.2	-	9	1159	c.713T>C	c.(712-714)GTT>GCT	p.V238A	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.V79A|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.V46A|C2orf86_uc002sci.1_Missense_Mutation_p.V214A|C2orf86_uc010fcr.1_Missense_Mutation_p.V128A	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	238					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						CCAGCAAACAACTCTATCATG	0.433		NaN											0	0	0	0.008871	0	16	27				
DYSF	8291	broad.mit.edu	37	2	71894600	71894600	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:71894600G>A	uc002sie.2	+	47	5671	c.5295G>A	c.(5293-5295)GTG>GTA	p.V1765V	DYSF_uc010feg.2_Silent_p.V1796V|DYSF_uc010feh.2_Silent_p.V1772V|DYSF_uc002sig.3_Silent_p.V1751V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1786V|DYSF_uc010fef.2_Silent_p.V1803V|DYSF_uc010fei.2_Silent_p.V1782V|DYSF_uc010fek.2_Silent_p.V1783V|DYSF_uc010fej.2_Silent_p.V1773V|DYSF_uc010fel.2_Silent_p.V1752V|DYSF_uc010feo.2_Silent_p.V1797V|DYSF_uc010fem.2_Silent_p.V1787V|DYSF_uc010fen.2_Silent_p.V1804V|DYSF_uc002sif.2_Silent_p.V1766V|DYSF_uc010yqy.1_Silent_p.V646V|DYSF_uc010yqz.1_Silent_p.V526V	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1765	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CGGAGCACGTGGAGTCACGGC	0.652		NaN											0	0	0	0.007413	0	20	42				
CNGA3	1261	broad.mit.edu	37	2	98986521	98986521	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:98986521C>T	uc002syt.2	+	2	500	c.83C>T	c.(82-84)GCT>GTT	p.A28V	CNGA3_uc002syu.2_Missense_Mutation_p.A28V	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	28					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CTCAATCGCGCTGAAAATGGC	0.502		NaN											0	0	0	0.007413	0	19	27				
TBC1D8	11138	broad.mit.edu	37	2	101670703	101670703	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:101670703G>A	uc010fiv.2	-	4	584	c.453C>T	c.(451-453)TTC>TTT	p.F151F	TBC1D8_uc010yvw.1_Silent_p.F166F|TBC1D8_uc002tau.3_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	151	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CGGGGAAGTTGAACCTGGCCT	0.622		NaN											0	0	0	0.001984	0	7	12				
LRP1B	53353	broad.mit.edu	37	2	141812708	141812708	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:141812708C>A	uc002tvj.1	-	10	2501	c.1529G>T	c.(1528-1530)GGA>GTA	p.G510V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	510	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCACTTCCCAAGTTGAA	0.433		NaN								TSP Lung(27;0.18)			1	0	1.58986e-06	0.008291	1.69888e-06	10	62				
TANC1	85461	broad.mit.edu	37	2	160074029	160074029	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:160074029G>A	uc002uag.2	+	20	3540	c.3266G>A	c.(3265-3267)AGA>AAA	p.R1089K	TANC1_uc010zcm.1_Missense_Mutation_p.R1081K|TANC1_uc010fom.1_Missense_Mutation_p.R895K|TANC1_uc010fon.2_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1089	ANK 6.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCCGCAGGAAGAGGGAAGCTG	0.522		NaN											0	0	0	0.004289	0	35	202				
SCN1A	6323	broad.mit.edu	37	2	166870384	166870384	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:166870384C>A	uc010zcz.1	-	18	3560	c.3542G>T	c.(3541-3543)TGT>TTT	p.C1181F	SCN1A_uc002udo.3_Missense_Mutation_p.C1061F|SCN1A_uc010fpk.2_Missense_Mutation_p.C1033F	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1192						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTGATTTGACAACACTTGAA	0.388		NaN											1	0	1.76847e-28	0.01441	2.09306e-28	70	100				
PDE11A	50940	broad.mit.edu	37	2	178545579	178545579	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:178545579T>G	uc002ulq.2	-	16	2716	c.2398A>C	c.(2398-2400)ATC>CTC	p.I800L	PDE11A_uc002ulp.2_Missense_Mutation_p.I356L|PDE11A_uc002ulr.2_Missense_Mutation_p.I550L|PDE11A_uc002uls.1_Missense_Mutation_p.I442L|PDE11A_uc002ult.1_Missense_Mutation_p.I550L|PDE11A_uc002ulu.1_Missense_Mutation_p.I442L	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	800	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGGTTTTTGATGTTCCAATCG	0.318		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.004482	0	7	39				
TTN	7273	broad.mit.edu	37	2	179575634	179575634	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179575634G>T	uc010zfg.1	-	95	24682	c.24458C>A	c.(24457-24459)CCC>CAC	p.P8153H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4814H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9080							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAAAGAAGGGTGGGTTCTT	0.483		NaN											1	0	0.00621372	0.006214	0.00634953	8	92				
TTN	7273	broad.mit.edu	37	2	179644785	179644785	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644785A>T	uc010zfg.1	-	22	3895	c.3671T>A	c.(3670-3672)TTA>TAA	p.L1224*	TTN_uc010zfh.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfi.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfj.1_Nonsense_Mutation_p.L1178*|TTN_uc002unb.2_Nonsense_Mutation_p.L1224*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1224							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTAATTAAGGCTTGTtc	0.308		NaN											0	0	0	0.003271	0	35	61				
TTN	7273	broad.mit.edu	37	2	179644787	179644787	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644787G>T	uc010zfg.1	-	22	3893	c.3669C>A	c.(3667-3669)GCC>GCA	p.A1223A	TTN_uc010zfh.1_Silent_p.A1177A|TTN_uc010zfi.1_Silent_p.A1177A|TTN_uc010zfj.1_Silent_p.A1177A|TTN_uc002unb.2_Silent_p.A1223A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1223							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTAATTAAGGCTTGTtctt	0.313		NaN											1	0	1.56442e-22	0.012213	1.81706e-22	33	62				
ANKRD44	91526	broad.mit.edu	37	2	197889932	197889932	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:197889932T>A	uc002uua.1	-	17	1712	c.1635A>T	c.(1633-1635)CCA>CCT	p.P545P	ANKRD44_uc002utz.3_Silent_p.P277P	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	570	ANK 17.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTAAGTGGAGTGGACTCTTAG	0.383		NaN											0	0	0	0.009535	0	30	51				
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:198265453C>T	uc002uue.2	-	18	2752	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	902					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318		NaN											0	0	0	0.003954	0	25	50				
MAP2	4133	broad.mit.edu	37	2	210559447	210559447	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:210559447T>C	uc002vde.1	+	7	2801	c.2553T>C	c.(2551-2553)ACT>ACC	p.T851T	MAP2_uc002vdc.1_Silent_p.T851T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T847T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	851					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCCCGGTAACTGATGAAAACC	0.493		NaN											0	0	0	0.001855	0	13	68				
SMARCAL1	50485	broad.mit.edu	37	2	217300080	217300080	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:217300080C>T	uc002vgc.3	+	9	1835	c.1505C>T	c.(1504-1506)CCA>CTA	p.P502L	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.P502L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.P502L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	502	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGGTGGCTGCCATCTCTGAGC	0.547		NaN							Schimke_Immuno-Osseous_Dysplasia				0	0	0	0.003163	0	13	62				
TNS1	7145	broad.mit.edu	37	2	218713307	218713307	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:218713307A>G	uc002vgt.2	-	17	1956	c.1558T>C	c.(1558-1560)TCT>CCT	p.S520P	TNS1_uc002vgr.2_Missense_Mutation_p.S520P|TNS1_uc002vgs.2_Missense_Mutation_p.S520P|TNS1_uc010zjv.1_Missense_Mutation_p.S520P|TNS1_uc010fvj.1_Missense_Mutation_p.S588P|TNS1_uc010fvk.1_Missense_Mutation_p.S645P|TNS1_uc010fvi.1_Missense_Mutation_p.S207P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	520						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGAGAAGAGAGTGTGCCC	0.592		NaN											0	0	0	0.004007	0	14	62				
IHH	3549	broad.mit.edu	37	2	219924972	219924972	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:219924972C>T	uc002vjo.1	-	1	218	c.218G>A	c.(217-219)CGC>CAC	p.R73H	hsa-mir-3131|MI0014151_5'Flank	NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	73					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGGAGCTGCGAGCGATCTT	0.612		NaN											0	0	0	0.012213	0	32	54				
KIF1A	547	broad.mit.edu	37	2	241715279	241715279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:241715279C>T	uc002vzy.2	-	11	1093	c.947G>A	c.(946-948)CGG>CAG	p.R316Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R316Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R316Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	316	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGTTTTCCCGGAGGAGCCA	0.577		NaN											0	0	0	0.001168	0	6	24				
NEU4	129807	broad.mit.edu	37	2	242757712	242757712	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:242757712C>T	uc010fzr.2	+	4	879	c.793C>T	c.(793-795)CGC>TGC	p.R265C	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.R265C|NEU4_uc002wcn.1_Missense_Mutation_p.R277C|NEU4_uc002wco.1_Missense_Mutation_p.R265C|NEU4_uc002wcp.1_Missense_Mutation_p.R277C	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	265						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCCGCAGAGCGCGTGGCTTC	0.697		NaN											0	0	0	0.000602	0	4	3				
ZNF341	84905	broad.mit.edu	37	20	32349815	32349815	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:32349815G>A	uc002wzy.2	+	8	1196	c.1176G>A	c.(1174-1176)CAG>CAA	p.Q392Q	ZNF341_uc002wzx.2_Silent_p.Q385Q|ZNF341_uc010geq.2_Silent_p.Q302Q|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGACCGTACAGGTCATGGCCC	0.567		NaN											0	0	0	0.007835	0	37	77				
CPNE1	8904	broad.mit.edu	37	20	34219095	34219095	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:34219095C>T	uc002xdf.2	-	12	1165	c.802G>A	c.(802-804)GTA>ATA	p.V268I	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.V273I|CPNE1_uc002xde.2_Missense_Mutation_p.V244I|CPNE1_uc002xdg.2_Missense_Mutation_p.V268I|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.V268I|CPNE1_uc002xdi.2_Missense_Mutation_p.V268I|CPNE1_uc002xdj.2_Missense_Mutation_p.V268I|CPNE1_uc002xdk.2_Missense_Mutation_p.V268I|CPNE1_uc002xdl.2_Missense_Mutation_p.V268I|CPNE1_uc002xdm.2_Missense_Mutation_p.V268I|CPNE1_uc010gfk.1_Missense_Mutation_p.V268I	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	268					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTGTTTCTACCTGCAAATGA	0.493		NaN											0	0	0	0.01441	0	64	157				
KIAA0406	9675	broad.mit.edu	37	20	36611923	36611923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:36611923C>T	uc002xhl.2	-	9	3414	c.3205G>A	c.(3205-3207)GGG>AGG	p.G1069R	KIAA0406_uc002xhm.2_Missense_Mutation_p.G1069R	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	1069							binding				0		Myeloproliferative disorder(115;0.00874)				CCGCTGGCCCCGTGCAGCTGC	0.652		NaN											0	0	0	0.001855	0	12	32				
CDH4	1002	broad.mit.edu	37	20	60508129	60508129	+	Missense_Mutation	SNP	G	G	A	rs142330895		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:60508129G>A	uc002ybn.1	+	14	2340	c.2326G>A	c.(2326-2328)GTC>ATC	p.V776I	CDH4_uc002ybp.1_Missense_Mutation_p.V702I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	776	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGAGGACGACGTCCGCGACAA	0.657		NaN											0	0	0	0.003954	0	21	56				
PWP2	5822	broad.mit.edu	37	21	45542227	45542227	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:45542227G>A	uc002zeb.2	+	14	1896	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	602						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCAAGCACGCGGCCAAGGGGA	0.582		NaN											0	0	0	0.006214	0	10	43				
ITGB2	3689	broad.mit.edu	37	21	46306766	46306766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:46306766C>T	uc002zgd.2	-	14	2176	c.2132G>A	c.(2131-2133)GGC>GAC	p.G711D	ITGB2_uc002zge.2_Missense_Mutation_p.G711D|ITGB2_uc002zgf.3_Missense_Mutation_p.G711D|ITGB2_uc011afl.1_Missense_Mutation_p.G633D|ITGB2_uc010gpw.2_Missense_Mutation_p.G654D|ITGB2_uc002zgg.2_Missense_Mutation_p.G711D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	711	Helical; (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCACGATGCCTGCCACGGT	0.612		NaN											0	0	0	0.004482	0	7	57				
IL5RA	3568	broad.mit.edu	37	3	3139839	3139839	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:3139839T>G	uc011ask.1	-	7	1147	c.503A>C	c.(502-504)CAG>CCG	p.Q168P	IL5RA_uc010hbq.2_Missense_Mutation_p.Q168P|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.Q168P|IL5RA_uc011asl.1_Missense_Mutation_p.Q168P|IL5RA_uc011asm.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbt.2_Missense_Mutation_p.Q168P|IL5RA_uc011asn.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbu.2_Missense_Mutation_p.Q168P	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	168	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGAAAATACTGCGTGTCCTC	0.408		NaN											0	0	0	0.006122	0	17	76				
PRRT3	285368	broad.mit.edu	37	3	9989043	9989043	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:9989043G>C	uc003bul.2	-	4	1944	c.1814C>G	c.(1813-1815)TCG>TGG	p.S605W	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	605	Helical; (Potential).					integral to membrane					0						CCAGGCGCACGACAAGCCCTG	0.711		NaN											0	0	0	0.000602	0	4	23				
ZNF385D	79750	broad.mit.edu	37	3	21465483	21465483	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:21465483T>G	uc003cce.2	-	7	1334	c.926A>C	c.(925-927)AAA>ACA	p.K309T		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	309						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						CTTCTGTAGTTTGTTGTAAGG	0.423		NaN											0	0	0	0.00499	0	12	84				
LRRFIP2	9209	broad.mit.edu	37	3	37100399	37100399	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:37100399A>C	uc003cgp.2	-	26	2175	c.1752T>G	c.(1750-1752)ATT>ATG	p.I584M	MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.I366M|LRRFIP2_uc003cgr.2_Missense_Mutation_p.I287M|LRRFIP2_uc003cgs.3_Missense_Mutation_p.I287M|LRRFIP2_uc003cgt.3_Missense_Mutation_p.I263M	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	584	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						TCAGTTTTCTAATCTGAAATG	0.438		NaN											0	0	0	0.004482	0	9	59				
PLCD1	5333	broad.mit.edu	37	3	38050562	38050562	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:38050562A>T	uc003chn.2	-	11	1818	c.1694T>A	c.(1693-1695)GTG>GAG	p.V565E	PLCD1_uc003chm.2_Missense_Mutation_p.V586E	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	565	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCACATCTCCACGGGGCTGTA	0.642		NaN											0	0	0	0.009096	0	4	29				
TRAK1	22906	broad.mit.edu	37	3	42244140	42244140	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:42244140T>C	uc003cky.2	+	13	1856	c.1640T>C	c.(1639-1641)CTG>CCG	p.L547P	TRAK1_uc011azh.1_Missense_Mutation_p.L547P|TRAK1_uc011azi.1_Missense_Mutation_p.L547P|TRAK1_uc003ckz.3_Missense_Mutation_p.L473P|TRAK1_uc011azj.1_Missense_Mutation_p.L473P|TRAK1_uc003cla.2_Missense_Mutation_p.L489P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	547					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ATCATGTCCCTGGGCACGCAC	0.622		NaN											0	0	0	0.014323	0	22	54				
MST1R	4486	broad.mit.edu	37	3	49932949	49932949	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:49932949G>T	uc003cxy.3	-	13	3259	c.2995C>A	c.(2995-2997)CTG>ATG	p.L999M	MST1R_uc011bdc.1_Translation_Start_Site	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	999	Cytoplasmic (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCTGGTCCAGGGATGCCAGG	0.567		NaN											1	0	1.75199e-13	0.007291	1.99769e-13	29	57				
TLR9	54106	broad.mit.edu	37	3	52256636	52256636	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:52256636G>A	uc003dda.1	-	2	2330	c.1696C>T	c.(1696-1698)CAC>TAC	p.H566Y	TLR9_uc003ddb.2_Missense_Mutation_p.H663Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	566	LRR 18.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGAAGTTGTGGCCCACGCCC	0.627		NaN											0	0	0	0.00245	0	14	38				
CNTN3	5067	broad.mit.edu	37	3	74414794	74414794	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:74414794A>G	uc003dpm.1	-	8	1086	c.1006T>C	c.(1006-1008)TAT>CAT	p.Y336H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	336	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCCCAATAAAGACTGTCC	0.448		NaN											0	0	0	0.01441	0	91	201				
IFT57	55081	broad.mit.edu	37	3	107881334	107881334	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:107881334C>G	uc003dwx.3	-	11	1528	c.1280G>C	c.(1279-1281)GGC>GCC	p.G427A		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	427					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAATAAAAGCCTGTTGCTGG	0.343		NaN											0	0	0	0.01441	0	46	57				
PODXL2	50512	broad.mit.edu	37	3	127379999	127379999	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:127379999G>A	uc003ejq.2	+	3	1152	c.1128G>A	c.(1126-1128)ACG>ACA	p.T376T		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	376	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						GGGATTCTACGCAGGTAAAGT	0.582		NaN											0	0	0	0.010729	0	12	44				
PIK3CB	5291	broad.mit.edu	37	3	138474750	138474750	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:138474750T>C	uc011bmq.1	-	2	243	c.243A>G	c.(241-243)GCA>GCG	p.A81A		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	81	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GATTCACACATGCAAACATAT	0.368		NaN											0	0	0	0.010504	0	21	99				
IGSF10	285313	broad.mit.edu	37	3	151161553	151161553	+	Missense_Mutation	SNP	G	G	C	rs143471166		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:151161553G>C	uc011bod.1	-	5	5182	c.5182C>G	c.(5182-5184)CTG>GTG	p.L1728V	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1728	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCAAACAGATTGGATGCG	0.517		NaN											0	0	0	0.007835	0	41	47				
DHX36	170506	broad.mit.edu	37	3	154018863	154018863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:154018863T>C	uc003ezy.3	-	10	1352	c.1271A>G	c.(1270-1272)CAA>CGA	p.Q424R	DHX36_uc010hvq.2_Missense_Mutation_p.Q424R|DHX36_uc003ezz.3_Missense_Mutation_p.Q424R	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	424						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATGCCCTTGCATGAAACC	0.328		NaN											0	0	0	0.01441	0	60	83				
TP63	8626	broad.mit.edu	37	3	189349307	189349307	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:189349307G>A	uc003fry.2	+	1	92	c.3G>A	c.(1-3)ATG>ATA	p.M1I	TP63_uc003frx.2_Missense_Mutation_p.M1I|TP63_uc003frz.2_Missense_Mutation_p.M1I|TP63_uc010hzc.1_Missense_Mutation_p.M1I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	1	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAAGGAAATGAATTTTGAAA	0.373		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			0	0	0	0.01441	0	61	127				
SLC34A2	10568	broad.mit.edu	37	4	25677925	25677925	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:25677925A>T	uc003grr.2	+	13	1708	c.1627A>T	c.(1627-1629)ACG>TCG	p.T543S	SLC34A2_uc003grs.2_Missense_Mutation_p.T542S|SLC34A2_uc010iev.2_Missense_Mutation_p.T542S	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	543	Helical; Name=M7; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GATCCCGCTGACGGTGTTTGG	0.607		NaN											0	0	0	0.01441	0	48	73				
TMPRSS11B	132724	broad.mit.edu	37	4	69101967	69101967	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:69101967G>T	uc003hdw.3	-	3	278	c.142C>A	c.(142-144)CAA>AAA	p.Q48K		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	48	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						AAATCACCTTGATAATAGTAA	0.328		NaN											1	0	2.56e-06	0.009096	2.68944e-06	3	18				
ANK2	287	broad.mit.edu	37	4	114170923	114170923	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:114170923G>A	uc003ibe.3	+	10	995	c.895G>A	c.(895-897)GGG>AGG	p.G299R	ANK2_uc003ibd.3_Missense_Mutation_p.G278R|ANK2_uc003ibf.3_Missense_Mutation_p.G299R|ANK2_uc003ibc.2_Missense_Mutation_p.G275R|ANK2_uc011cgb.1_Missense_Mutation_p.G314R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	299	ANK 9.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCAGGATGGGTTGACACC	0.458		NaN											0	0	0	0.001168	0	5	22				
FGA	2243	broad.mit.edu	37	4	155508016	155508016	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:155508016C>A	uc003iod.1	-	5	623	c.565G>T	c.(565-567)GCT>TCT	p.A189S	FGA_uc003ioe.1_Missense_Mutation_p.A189S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	189	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTTCACGAGCTAAAGCCCTA	0.418		NaN											1	0	0.00198382	0.001984	0.00203832	6	75				
GUCY1A3	2982	broad.mit.edu	37	4	156631990	156631990	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:156631990G>A	uc003iov.2	+	7	1209	c.673G>A	c.(673-675)GTA>ATA	p.V225I	GUCY1A3_uc003iou.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V225I|GUCY1A3_uc003iow.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.V224I|GUCY1A3_uc003iox.2_Missense_Mutation_p.V225I|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.V225I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	225					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGCTGCTCACGTATTATATGA	0.448		NaN											0	0	0	0.00632	0	29	74				
HMGB2	3148	broad.mit.edu	37	4	174253977	174253977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:174253977C>T	uc011ckc.1	-	3	586	c.466G>A	c.(466-468)GAA>AAA	p.E156K	HMGB2_uc003ita.3_Missense_Mutation_p.E156K|HMGB2_uc003itb.2_Missense_Mutation_p.E156K|HMGB2_uc003itc.2_3'UTR	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	156	HMG box 2.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGTACCTTTTCATATTTCTCC	0.363		NaN											0	0	0	0.01441	0	85	116				
NPR3	4883	broad.mit.edu	37	5	32780872	32780872	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:32780872G>A	uc003jhv.2	+	5	1458	c.1240G>A	c.(1240-1242)GGG>AGG	p.G414R	NPR3_uc010iuo.2_Missense_Mutation_p.G198R|NPR3_uc011cnz.1_Missense_Mutation_p.G198R|NPR3_uc003jhu.2_Missense_Mutation_p.G414R	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	414	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGACCGATATGGGGATTTCTC	0.547		NaN											0	0	0	0.01441	0	70	148				
BDP1	55814	broad.mit.edu	37	5	70761989	70761989	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:70761989A>G	uc003kbp.1	+	5	989	c.726A>G	c.(724-726)CCA>CCG	p.P242P	BDP1_uc003kbn.1_Silent_p.P242P|BDP1_uc003kbo.2_Silent_p.P242P	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	242	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGATGGGCCATTACTGGTTC	0.368		NaN											0	0	0	0.009718	0	41	53				
ZNF608	57507	broad.mit.edu	37	5	123983756	123983756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:123983756G>C	uc003ktq.1	-	4	2444	c.2321C>G	c.(2320-2322)ACT>AGT	p.T774S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.T774S|ZNF608_uc003ktt.1_Missense_Mutation_p.T774S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	774						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGAACAACAGTTGTTGTGAG	0.552		NaN											0	0	0	0.000602	0	5	81				
GRM6	2916	broad.mit.edu	37	5	178416401	178416401	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416401C>T	uc003mjr.2	-	5	1197	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	340	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGTACTGGTCAAATCCTACA	0.527		NaN											0	0	0	0.013537	0	13	68				
GRM6	2916	broad.mit.edu	37	5	178416406	178416406	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416406C>T	uc003mjr.2	-	5	1192	c.1013G>A	c.(1012-1014)GGA>GAA	p.G338E	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	338	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGGTCAAATCCTACAGACAG	0.532		NaN											0	0	0	0.008291	0	11	66				
TFAP2A	7020	broad.mit.edu	37	6	10410399	10410399	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:10410399G>A	uc003myr.2	-	2	467	c.215C>T	c.(214-216)CCT>CTT	p.P72L	TFAP2A_uc003myq.2_Missense_Mutation_p.P66L|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Missense_Mutation_p.P72L|TFAP2A_uc003myt.2_Missense_Mutation_p.P68L|TFAP2A_uc003myu.1_Missense_Mutation_p.P72L|TFAP2A_uc003myv.1_Missense_Mutation_p.P58L|TFAP2A_uc011dii.1_Missense_Mutation_p.P68L|uc003myw.2_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	72	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.P66R(1)		ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGGGAGTAAGGATCTTGCGA	0.672		NaN											0	0	0	0.004482	0	8	63				
OR2W1	26692	broad.mit.edu	37	6	29012935	29012935	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:29012935A>G	uc003nlw.2	-	1	18	c.18T>C	c.(16-18)TAT>TAC	p.Y6Y		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTAAAGAACTATAATTGCTTT	0.284		NaN											0	0	0	0.00632	0	28	51				
CCHCR1	54535	broad.mit.edu	37	6	31110378	31110378	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:31110378C>T	uc003nsr.3	-	18	2463	c.2340G>A	c.(2338-2340)ATG>ATA	p.M780I	CCHCR1_uc011dne.1_Missense_Mutation_p.M766I|CCHCR1_uc003nsq.3_Missense_Mutation_p.M833I|CCHCR1_uc003nsp.3_Missense_Mutation_p.M869I	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	780					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CTTAGCTGCTCATCTGGGGAT	0.577		NaN											0	0	0	0.004007	0	17	36				
PGC	5225	broad.mit.edu	37	6	41712175	41712175	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:41712175G>A	uc003ora.1	-	3	337	c.288C>T	c.(286-288)AAC>AAT	p.N96N		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	96					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCACCCACAAGTTGGAGGAGC	0.612		NaN											0	0	0	0.014323	0	21	50				
TRERF1	55809	broad.mit.edu	37	6	42203985	42203985	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:42203985C>A	uc003osd.2	-	16	3587	c.3024G>T	c.(3022-3024)CAG>CAT	p.Q1008H	TRERF1_uc011duq.1_Missense_Mutation_p.Q925H|TRERF1_uc003osb.2_Missense_Mutation_p.Q764H|TRERF1_uc003osc.2_Missense_Mutation_p.Q764H|TRERF1_uc003ose.2_Missense_Mutation_p.Q1028H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1008	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCTGAGGGCTGGCCCAGGG	0.627		NaN											1	0	2.0095e-06	0.001984	2.13509e-06	6	14				
DPPA5	340168	broad.mit.edu	37	6	74063929	74063929	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:74063929C>T	uc003pgs.1	-	1	25	c.20G>A	c.(19-21)CGT>CAT	p.R7H		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	7					multicellular organismal development	cytoplasm	RNA binding				0						GATATGTCTACGTGCCGGGAG	0.572		NaN											0	0	0	0.009096	0	4	29				
TPBG	7162	broad.mit.edu	37	6	83075858	83075858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:83075858G>T	uc003pjn.3	+	3	2116	c.1180G>T	c.(1180-1182)GAT>TAT	p.D394Y	TPBG_uc010kbj.2_Missense_Mutation_p.D394Y|TPBG_uc003pjo.2_Missense_Mutation_p.D394Y	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	394	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGCCTGCAGGGATCACATGGA	0.423		NaN											1	0	1.50039e-11	0.012319	1.68008e-11	19	63				
C6orf97	80129	broad.mit.edu	37	6	151907137	151907137	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:151907137G>A	uc003qol.2	+	7	1295	c.1206G>A	c.(1204-1206)GAG>GAA	p.E402E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	402	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		ATATGTTGGAGACTCTTCAGG	0.473		NaN											0	0	0	0.000602	0	4	13				
ETV1	2115	broad.mit.edu	37	7	13971355	13971355	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:13971355C>G	uc011jxq.1	-	9	1313	c.574G>C	c.(574-576)GAA>CAA	p.E192Q	ETV1_uc011jxn.1_Missense_Mutation_p.E152Q|ETV1_uc011jxo.1_Missense_Mutation_p.E89Q|ETV1_uc011jxp.1_Missense_Mutation_p.E134Q|ETV1_uc003ssw.3_Missense_Mutation_p.E192Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E174Q|ETV1_uc011jxs.1_Missense_Mutation_p.E174Q|ETV1_uc010ktv.2_Missense_Mutation_p.E61Q	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	192					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						TTACAGGGTTCAGAAAGCTGG	0.468		NaN	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								0	0	0	0.004482	0	6	34				
EVX1	2128	broad.mit.edu	37	7	27282715	27282715	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:27282715G>C	uc003szd.1	+	1	552	c.66G>C	c.(64-66)AAG>AAC	p.K22N	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.K22N	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TGGTTGGCAAGAGAGTCTCAA	0.652		NaN											0	0	0	0.001168	0	4	8				
CCDC129	223075	broad.mit.edu	37	7	31683174	31683174	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:31683174C>T	uc003tcj.1	+	11	3183	c.2190C>T	c.(2188-2190)CCC>CCT	p.P730P	CCDC129_uc011kad.1_Silent_p.P740P|CCDC129_uc003tci.1_Silent_p.P581P|CCDC129_uc011kae.1_Silent_p.P756P|CCDC129_uc003tck.1_Silent_p.P638P	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	730											0						GGACTGGTCCCAGAGGAACAT	0.507		NaN											0	0	0	0.004007	0	16	50				
TXNDC3	51314	broad.mit.edu	37	7	37904018	37904018	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:37904018A>G	uc003tfn.2	+	9	895	c.523A>G	c.(523-525)AGA>GGA	p.R175G		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	175	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						AGAAATTAAAAGAAAAGTAAG	0.274		NaN							Kartagener_syndrome				0	0	0	0.004672	0	3	12				
ZMIZ2	83637	broad.mit.edu	37	7	44795867	44795867	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:44795867A>G	uc003tlr.2	+	2	142	c.19A>G	c.(19-21)ATG>GTG	p.M7V	ZMIZ2_uc003tlq.2_Missense_Mutation_p.M7V|ZMIZ2_uc003tls.2_Missense_Mutation_p.M7V	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	7					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CATGAACCCCATGAAACCTGC	0.607		NaN											0	0	0	0.008871	0	19	35				
ADCY1	107	broad.mit.edu	37	7	45726145	45726145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:45726145G>A	uc003tne.3	+	14	2346	c.2328_splice	c.e14-1	p.G776_splice		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTTCCCCCAGGGGTGGTGCC	0.612		NaN											0	0	0	0.001855	0	12	30				
ZNF804B	219578	broad.mit.edu	37	7	88963715	88963715	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:88963715T>C	uc011khi.1	+	4	1957	c.1419T>C	c.(1417-1419)TAT>TAC	p.Y473Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	473						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTATCTCTTATGGCTGCAACC	0.433		NaN								HNSCC(36;0.09)			0	0	0	0.003954	0	25	59				
CSMD1	64478	broad.mit.edu	37	8	2824091	2824091	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:2824091C>G	uc011kwk.1	-	58	9493	c.9103_splice	c.e58+1	p.I3035_splice	CSMD1_uc011kwj.1_Splice_Site_p.I2364_splice|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTTACTAACTTGTGCAGTC	0.443		NaN											0	0	0	0.000602	0	5	12				
ZFHX4	79776	broad.mit.edu	37	8	77767234	77767234	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:77767234C>T	uc003yav.2	+	10	8329	c.7942C>T	c.(7942-7944)CAC>TAC	p.H2648Y	ZFHX4_uc003yau.1_Missense_Mutation_p.H2693Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2648Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2648	C2H2-type 17.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTAGAAAGCCACATTCGCTC	0.542		NaN								HNSCC(33;0.089)			0	0	0	0.008291	0	9	53				
TRHR	7201	broad.mit.edu	37	8	110131363	110131363	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110131363C>T	uc003ymz.3	+	2	892	c.876C>T	c.(874-876)CTC>CTT	p.L292L		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	292	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACTCATTTCTCTCCAGTCCTT	0.428		NaN											0	0	0	0.01441	0	118	206				
PKHD1L1	93035	broad.mit.edu	37	8	110439238	110439238	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110439238C>T	uc003yne.2	+	25	2957	c.2853C>T	c.(2851-2853)CCC>CCT	p.P951P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	951	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGCCTCCCCGCTGCTGTGT	0.438		NaN								HNSCC(38;0.096)			0	0	0	0.004007	0	17	85				
NOV	4856	broad.mit.edu	37	8	120428805	120428805	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:120428805C>T	uc003yoq.2	+	1	254	c.33C>T	c.(31-33)CTC>CTT	p.L11L		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	11					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTTTGTCTCCGAAAGCAGT	0.542		NaN									OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	6	13				
FER1L6	654463	broad.mit.edu	37	8	125072849	125072849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:125072849C>G	uc003yqw.2	+	24	3252	c.3046C>G	c.(3046-3048)CAG>GAG	p.Q1016E	uc003yqy.1_RNA	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1016	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGATCGGCCTCAGGCTCTCAT	0.542		NaN											0	0	0	0.00333	0	25	39				
DOCK8	81704	broad.mit.edu	37	9	429743	429743	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:429743C>T	uc003zgf.2	+	36	4627	c.4515C>T	c.(4513-4515)TTC>TTT	p.F1505F	DOCK8_uc010mgu.2_Silent_p.F807F|DOCK8_uc010mgv.2_Silent_p.F1405F|DOCK8_uc003zgk.2_Silent_p.F963F	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1505	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AACAGTGTTTCGACCTATGTC	0.502		NaN											0	0	0	0.01441	0	60	18				
RLN1	6013	broad.mit.edu	37	9	5339616	5339616	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:5339616A>T	uc003zjb.1	-	1	258	c.131T>A	c.(130-132)ATT>AAT	p.I44N		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	44					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GCAAATGGCAATCTGCGCGCG	0.527		NaN											0	0	0	0.009096	0	4	56				
MPDZ	8777	broad.mit.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:13205963C>A	uc010mia.1	-	10	1483	c.1426G>T	c.(1426-1428)GTC>TTC	p.V476F	MPDZ_uc010mhy.2_Missense_Mutation_p.V476F|MPDZ_uc010mhz.2_Missense_Mutation_p.V476F|MPDZ_uc011lmn.1_Missense_Mutation_p.V476F|MPDZ_uc003zlb.3_Missense_Mutation_p.V476F	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418		NaN											1	0	2.56e-06	0.009096	2.68944e-06	4	39				
ARID3C	138715	broad.mit.edu	37	9	34622477	34622477	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:34622477T>C	uc011lon.1	-	5	915	c.915A>G	c.(913-915)GCA>GCG	p.A305A	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	305	REKLES.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TAGGTCCCAGTGCCAGGCCCA	0.582		NaN											0	0	0	0.010771	0	44	34				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:35906559A>C	uc003zyr.1	+	1	371	c.275A>C	c.(274-276)CAC>CCC	p.H92P	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane					0						caccaccaccacccccgccac	0.393		NaN											0	0	0	0.013537	0	7	8				
DFNB31	25861	broad.mit.edu	37	9	117186682	117186682	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:117186682G>C	uc004biz.3	-	6	1997	c.1348C>G	c.(1348-1350)CGT>GGT	p.R450G	DFNB31_uc004bix.2_Missense_Mutation_p.R99G|DFNB31_uc004biy.3_Missense_Mutation_p.R67G|DFNB31_uc004bja.3_Missense_Mutation_p.R450G	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	450					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CTGCCACCACGGTACTCATCC	0.632		NaN											0	0	0	0.010729	0	12	56				
TSC1	7248	broad.mit.edu	37	9	135777087	135777087	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:135777087C>A	uc004cca.2	-	19	2626	c.2392_splice	c.e19-1	p.T798_splice	TSC1_uc004ccb.3_Splice_Site_p.T797_splice|TSC1_uc011mcq.1_Splice_Site_p.T747_splice|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAGCTTCGTCTGCCCAAAGA	0.547		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	7.73544e-29	0.01441	9.21355e-29	68	42		Valid		
SNAPC4	6621	broad.mit.edu	37	9	139276292	139276292	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:139276292G>A	uc004chh.2	-	17	2310	c.2301C>T	c.(2299-2301)GCC>GCT	p.A767A		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	767					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCTGCACTACGGCGGGTCTCT	0.642		NaN											0	0	0	0.006214	0	9	36				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.005443	0	27	12		Valid		
GPR173	54328	broad.mit.edu	37	X	53106253	53106253	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:53106253G>A	uc004dru.2	+	2	708	c.450G>A	c.(448-450)CTG>CTA	p.L150L		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	150	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CCTGGACCCTGTCTGTGGCCA	0.587		NaN											0	0	0	0.010729	0	12	19				
MAGEA10	4109	broad.mit.edu	37	X	151303231	151303231	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:151303231C>T	uc004ffk.2	-	5	1270	c.862G>A	c.(862-864)GGC>AGC	p.G288S	MAGEA10_uc004ffl.2_Missense_Mutation_p.G288S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	288	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCACTGCCAGGCACCTGC	0.522		NaN											0	0	0	0.01441	0	69	36				
ENO1	2023	broad.mit.edu	37	1	8934961	8934961	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:8934961T>C	uc001apj.1	-	2	158	c.7A>G	c.(7-9)ATT>GTT	p.I3V	ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Missense_Mutation_p.I3V|ENO1_uc009vmi.1_Missense_Mutation_p.I3V|ENO1_uc009vmj.1_Missense_Mutation_p.I3V|ENO1_uc009vmk.1_5'UTR|ENO1_uc009vml.1_Missense_Mutation_p.I3V|ENO1_uc009vmm.1_RNA	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	3					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATCTTGAGAATAGACATGGTG	0.448		NaN											0	0	0	0.007835	0	38	38				
BAT2L2	23215	broad.mit.edu	37	1	171510162	171510162	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:171510162G>T	uc010pmg.1	+	16	3817	c.3551G>T	c.(3550-3552)GGA>GTA	p.G1184V	BAT2L2_uc010pmh.1_Missense_Mutation_p.G161V	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1184							protein C-terminus binding				0						CCAGATCAAGGATACAGAGGT	0.493		NaN											1	0	4.36969e-10	0.001855	5.34073e-10	13	64				
HMCN1	83872	broad.mit.edu	37	1	185972852	185972852	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:185972852C>G	uc001grq.1	+	29	4580	c.4351C>G	c.(4351-4353)CCA>GCA	p.P1451A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1451					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTCAAGTTCCACCCACCAT	0.433		NaN											0	0	0	0.00308	0	7	119				
CENPF	1063	broad.mit.edu	37	1	214814730	214814730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:214814730C>T	uc001hkm.2	+	12	3223	c.3049C>T	c.(3049-3051)CAG>TAG	p.Q1017*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1017	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTATCTGATCAGTACAAGCA	0.333		NaN											0	0	0	0.006122	0	16	79				
OR2B11	127623	broad.mit.edu	37	1	247614709	247614709	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:247614709C>T	uc010pyx.1	-	1	576	c.576G>A	c.(574-576)TCG>TCA	p.S192S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCAGCACACGACAGCTTGA	0.562		NaN											0	0	0	0.001984	0	7	32				
OR11L1	391189	broad.mit.edu	37	1	248005058	248005058	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:248005058G>A	uc001idn.1	-	1	141	c.141C>T	c.(139-141)ACC>ACT	p.T47T		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCACCACGGTGATGATGA	0.522		NaN											0	0	0	0.013537	0	10	27				
WAC	51322	broad.mit.edu	37	10	28908493	28908493	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:28908493G>A	uc001iuf.2	+	14	1987	c.1902G>A	c.(1900-1902)AAG>AAA	p.K634K	WAC_uc001iud.2_Silent_p.K589K|WAC_uc001iue.2_Silent_p.K324K|WAC_uc001iug.2_Silent_p.K531K|WAC_uc001iuh.2_Silent_p.K585K	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	634	Potential.				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2						AACAAATTAAGGAACTTGAAA	0.318		NaN											0	0	0	0.001855	0	11	25				
LYZL2	119180	broad.mit.edu	37	10	30915167	30915167	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:30915167G>A	uc001ivk.2	-	3	316	c.303C>T	c.(301-303)AGC>AGT	p.S101S		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	55					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TGTTGTAGCCGCTCTCATAAT	0.557		NaN											0	0	0	0.010504	0	19	50				
ADK	132	broad.mit.edu	37	10	76349059	76349059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:76349059G>C	uc001jwi.2	+	8	818	c.746G>C	c.(745-747)AGA>ACA	p.R249T	ADK_uc010qlb.1_Missense_Mutation_p.R192T|ADK_uc001jwj.2_Missense_Mutation_p.R232T|ADK_uc010qlc.1_Missense_Mutation_p.R214T|ADK_uc001jwl.2_Missense_Mutation_p.R19T	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	249					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	ACTTTTGCTAGAGAGCAAGGC	0.338		NaN											0	0	0	0.003163	0	13	67				
GRID1	2894	broad.mit.edu	37	10	87487630	87487630	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:87487630G>T	uc001kdl.1	-	10	1616	c.1515C>A	c.(1513-1515)ATC>ATA	p.I505I	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.I76I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	505	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGAGCTCCCCGATCATCCCGT	0.532		NaN								Multiple Myeloma(13;0.14)			1	0	3.52763e-06	0.00499	4.12077e-06	13	51				
SORCS3	22986	broad.mit.edu	37	10	106918731	106918731	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106918731C>A	uc001kyi.1	+	11	1938	c.1711C>A	c.(1711-1713)CCA>ACA	p.P571T		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	571	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGACAGCCCCAGGACTTGT	0.383		NaN											1	0	1.06961e-07	0.00308	1.28354e-07	7	49				
SORCS3	22986	broad.mit.edu	37	10	106937850	106937850	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106937850G>T	uc001kyi.1	+	14	2155	c.1928G>T	c.(1927-1929)TGG>TTG	p.W643L	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	643	BNR 6.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCCACTCTTGGGACAAGTAT	0.463		NaN											1	0	0.000219431	0.00245	0.000249698	12	54				
OR5I1	10798	broad.mit.edu	37	11	55703362	55703362	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:55703362T>A	uc010ris.1	-	1	515	c.515A>T	c.(514-516)GAC>GTC	p.D172V		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AACATTTTTGTCACAATATTT	0.428		NaN											0	0	0	0.006122	0	17	39				
CTSW	1521	broad.mit.edu	37	11	65650570	65650570	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:65650570C>T	uc001ogc.1	+	8	818	c.776C>T	c.(775-777)CCC>CTC	p.P259L	CTSW_uc001ogb.1_Missense_Mutation_p.P259L	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	259					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		ACTTATGGCCCCATCACCGTG	0.607		NaN											0	0	0	0.01441	0	60	177				
BBS1	582	broad.mit.edu	37	11	66297375	66297375	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:66297375G>A	uc001oij.1	+	14	1437	c.1425G>A	c.(1423-1425)CTG>CTA	p.L475L	BBS1_uc001oii.1_Silent_p.L512L|BBS1_uc010rpg.1_Silent_p.L378L|BBS1_uc001oik.1_Silent_p.L399L|BBS1_uc001oil.1_Silent_p.L346L|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Silent_p.L143L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	475					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						AGTCCAGCCTGAGCCCCCTGT	0.667		NaN							Bardet-Biedl_syndrome				0	0	0	0.001168	0	5	17				
FAT3	120114	broad.mit.edu	37	11	92085844	92085844	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:92085844C>G	uc001pdj.3	+	1	583	c.566C>G	c.(565-567)TCC>TGC	p.S189C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	189	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATATTGGTTCCAATGGAGAA	0.408		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004482	0	8	33				
HEPHL1	341208	broad.mit.edu	37	11	93844208	93844208	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:93844208C>T	uc001pep.2	+	18	3342	c.3185C>T	c.(3184-3186)ACC>ATC	p.T1062I	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1062	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGGAGACAACCTACACGGTC	0.512		NaN											0	0	0	0.001168	0	5	18				
ATM	472	broad.mit.edu	37	11	108188181	108188181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:108188181G>A	uc001pkb.1	+	43	6665	c.6280G>A	c.(6280-6282)GAA>AAA	p.E2094K	ATM_uc009yxr.1_Missense_Mutation_p.E2094K|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E746K|ATM_uc001pkg.1_Missense_Mutation_p.E451K	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2094	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGGTGTCCTGAACTAGAAGA	0.378		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.006999	0	35	124		Valid		
ARHGAP32	9743	broad.mit.edu	37	11	128839161	128839161	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:128839161C>G	uc009zcp.2	-	22	5905	c.5905G>C	c.(5905-5907)GAG>CAG	p.E1969Q	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E928Q|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1620Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1969	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTTCTTCCTCCTTGTAGCAG	0.537		NaN											0	0	0	0.00333	0	20	97				
NUP107	57122	broad.mit.edu	37	12	69121136	69121136	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:69121136A>C	uc001suf.2	+	20	1816	c.1701A>C	c.(1699-1701)GAA>GAC	p.E567D	NUP107_uc001sug.2_Missense_Mutation_p.E414D|NUP107_uc010stj.1_Missense_Mutation_p.E538D	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	567					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAAGGAGGAAGTTTCTATTG	0.234		NaN											0	0	0	0.003163	0	14	61				
UTP20	27340	broad.mit.edu	37	12	101679598	101679598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:101679598G>T	uc001tia.1	+	4	421	c.265G>T	c.(265-267)GTT>TTT	p.V89F	UTP20_uc009ztz.1_Missense_Mutation_p.V89F	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	89					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AAACGAGATAGTTCAGAGTTT	0.358		NaN											1	0	3.80469e-20	0.009535	5.0222e-20	30	80				
CCDC60	160777	broad.mit.edu	37	12	119909888	119909888	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:119909888A>G	uc001txe.2	+	3	725	c.260A>G	c.(259-261)CAG>CGG	p.Q87R	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	87	Potential.									ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAACAACTTCAGAAACTGAAA	0.423		NaN											0	0	0	0.009535	0	27	99				
NCOR2	9612	broad.mit.edu	37	12	124846735	124846735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:124846735G>A	uc010tba.1	-	22	3154	c.3037C>T	c.(3037-3039)CAG>TAG	p.Q1013*	NCOR2_uc010tay.1_Nonsense_Mutation_p.Q1012*|NCOR2_uc010taz.1_Nonsense_Mutation_p.Q996*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.Q1013*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.Q995*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.Q1013*	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1013					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCAGGCTGCTGAGGGGCGTCG	0.721		NaN											0	0	0	0.004482	0	6	18		Valid		
PDS5B	23047	broad.mit.edu	37	13	33315272	33315272	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:33315272G>C	uc010abf.2	+	22	2619	c.2461G>C	c.(2461-2463)GAG>CAG	p.E821Q	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	821					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTATCTCCTGAGACAATGGT	0.299		NaN											0	0	0	0.00499	0	12	44				
NALCN	259232	broad.mit.edu	37	13	101944345	101944345	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:101944345G>C	uc001vox.1	-	9	1232	c.1043C>G	c.(1042-1044)ACC>AGC	p.T348S	NALCN_uc001voy.2_Missense_Mutation_p.T63S|NALCN_uc001voz.2_Missense_Mutation_p.T348S|NALCN_uc001vpa.2_Missense_Mutation_p.T348S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	348	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGTACCTGGGTGGTGGCTGT	0.468		NaN											0	0	0	0.006122	0	13	101				
SRP54	6729	broad.mit.edu	37	14	35480773	35480773	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:35480773G>A	uc001wso.2	+	8	895	c.544G>A	c.(544-546)GAA>AAA	p.E182K	SRP54_uc010tpp.1_Missense_Mutation_p.E133K|SRP54_uc010tpq.1_Missense_Mutation_p.E118K	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	182	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATTTAAAAATGAAAATTTTGA	0.313		NaN											0	0	0	0.008361	0	25	72				
NIN	51199	broad.mit.edu	37	14	51206189	51206189	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:51206189A>G	uc001wym.2	-	26	5656	c.5465T>C	c.(5464-5466)ATA>ACA	p.I1822T	NIN_uc001wyi.2_Missense_Mutation_p.I1822T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.I1109T|NIN_uc010tqp.1_Missense_Mutation_p.I1828T|NIN_uc001wyo.2_Missense_Mutation_p.I1822T|NIN_uc001wyn.2_RNA	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1822					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGAGTAGCTATCTCTGGGGC	0.463		NaN	T	PDGFRB	MPD								0	0	0	0.006122	0	15	47				
SIX4	51804	broad.mit.edu	37	14	61186531	61186531	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:61186531C>T	uc001xfc.2	-	2	1496	c.1496G>A	c.(1495-1497)AGC>AAC	p.S499N	SIX4_uc010app.1_Missense_Mutation_p.S491N	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	499						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAATCCAATGCTCCCATTAAG	0.478		NaN											0	0	0	0.004656	0	20	84				
GOLGA5	9950	broad.mit.edu	37	14	93299497	93299497	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:93299497C>A	uc001yaz.1	+	10	1932	c.1750C>A	c.(1750-1752)CAG>AAG	p.Q584K	GOLGA5_uc001yba.1_5'UTR	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	584	Cytoplasmic (Potential).|Potential.			QS -> PV (in Ref. 8; CAB36967).	Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAATAGCAGTCAGTCTGAGTT	0.378		NaN	T	RET	papillary thyroid								1	0	2.48696e-23	0.003271	3.31594e-23	26	79				
DICER1	23405	broad.mit.edu	37	14	95560364	95560364	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:95560364T>C	uc001ydw.2	-	25	5407	c.5225A>G	c.(5224-5226)AAC>AGC	p.N1742S	DICER1_uc010avh.1_Missense_Mutation_p.N640S|DICER1_uc001ydv.2_Missense_Mutation_p.N1732S|DICER1_uc001ydx.2_Missense_Mutation_p.N1742S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1742	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGATGGTGTTGTTGACCAG	0.512		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.013726	0	27	51				
TLN2	83660	broad.mit.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:62939540C>T	uc002alb.3	+	1	31	c.31C>T	c.(31-33)CGC>TGC	p.R11C	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	11					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATTTGTGTGCGCCACTGCAA	0.488		NaN											0	0	0	0.008361	0	26	84				
IREB2	3658	broad.mit.edu	37	15	78780657	78780657	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:78780657G>A	uc002bdr.2	+	15	2092	c.1930G>A	c.(1930-1932)GAT>AAT	p.D644N	IREB2_uc010unb.1_Missense_Mutation_p.D394N	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	644							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGAATATAGATTTCCAGAC	0.363		NaN											0	0	0	0.012319	0	17	77				
KIAA1024	23251	broad.mit.edu	37	15	79750503	79750503	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:79750503G>A	uc002bew.1	+	2	2089	c.2014G>A	c.(2014-2016)GGA>AGA	p.G672R	KIAA1024_uc010unk.1_Missense_Mutation_p.G672R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	672						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGGCTCCCACGGACCCAAACT	0.547		NaN											0	0	0	0.01441	0	100	236				
HDGFRP3	50810	broad.mit.edu	37	15	83876119	83876119	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:83876119G>A	uc002bjs.1	-	1	203	c.48C>T	c.(46-48)TTC>TTT	p.F16F		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	16	PWWP.				cell proliferation	nucleus	growth factor activity				0						TCATCTTGGCGAAGACCAGGT	0.582		NaN											0	0	0	0.009096	0	3	16				
CREBBP	1387	broad.mit.edu	37	16	3807992	3807992	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:3807992C>G	uc002cvv.2	-	18	3631	c.3427G>C	c.(3427-3429)GAC>CAC	p.D1143H	CREBBP_uc002cvw.2_Missense_Mutation_p.D1105H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1143	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCCCTGTGTCCAGCTTCCGC	0.463		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				0	0	0	0.010729	0	9	31		Valid		
ACSM5	54988	broad.mit.edu	37	16	20432694	20432694	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:20432694C>A	uc002dhe.2	+	5	885	c.738C>A	c.(736-738)AGC>AGA	p.S246R		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	246					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						CCCAGAGCAGCTACGGACTGG	0.408		NaN											1	0	0.00829132	0.008291	0.00927503	9	33				
SLC12A3	6559	broad.mit.edu	37	16	56920342	56920342	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:56920342C>G	uc010ccm.2	+	16	2021	c.1992C>G	c.(1990-1992)ACC>ACG	p.T664T	SLC12A3_uc002ekd.3_Silent_p.T664T|SLC12A3_uc010ccn.2_Silent_p.T663T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	664	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGTGGGCACCTTCACCCGGA	0.572		NaN											0	0	0	0.004007	0	12	100				
PRMT7	54496	broad.mit.edu	37	16	68349908	68349908	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:68349908A>G	uc002evy.1	+	3	302	c.26A>G	c.(25-27)AAT>AGT	p.N9S	PRMT7_uc002evx.1_Missense_Mutation_p.N9S|PRMT7_uc010vlg.1_Missense_Mutation_p.N9S	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	9					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGTCGGGCCAATCCGACCACG	0.532		NaN											0	0	0	0.012319	0	13	53				
SPIRE2	84501	broad.mit.edu	37	16	89916779	89916779	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:89916779G>A	uc002foz.1	+	3	408	c.356G>A	c.(355-357)CGC>CAC	p.R119H	SPIRE2_uc010civ.1_Missense_Mutation_p.R34H|SPIRE2_uc010ciw.1_Missense_Mutation_p.R119H|SPIRE2_uc002fpa.1_Missense_Mutation_p.R71H|SPIRE2_uc010cix.1_5'UTR	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	119	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCGAGGAGCGCGAACTCAGC	0.701		NaN											0	0	0	0.00308	0	6	13				
PRDM7	11105	broad.mit.edu	37	16	90127012	90127012	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:90127012C>A	uc010cje.2	-	9	990	c.970G>T	c.(970-972)GAT>TAT	p.D324Y	PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.D118Y	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	324	SET.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTTCATCATCCCGGGCACAG	0.542		NaN											1	0	4.68919e-08	0.008291	5.67865e-08	8	92				
DPH1	1801	broad.mit.edu	37	17	1939321	1939321	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:1939321G>T	uc002fts.2	+	4	369	c.351G>T	c.(349-351)GTG>GTT	p.V117V	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.V112V|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Silent_p.V127V|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	117					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						CTTGCTGTGTGGATGACTTCA	0.652		NaN											1	0	0.00316338	0.003163	0.00356894	13	79				
ABCA9	10350	broad.mit.edu	37	17	67029998	67029998	+	Missense_Mutation	SNP	T	T	C	rs138456095	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67029998T>C	uc002jhu.2	-	9	1288	c.1145A>G	c.(1144-1146)TAT>TGT	p.Y382C	ABCA9_uc010dez.2_Missense_Mutation_p.Y382C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	382					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ATTCACATCATAGTCCAAATG	0.289		NaN											0	0	0	0.011902	0	35	149				
ABCA6	23460	broad.mit.edu	37	17	67079441	67079441	+	Missense_Mutation	SNP	C	C	G	rs143326198	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67079441C>G	uc002jhw.1	-	35	4562	c.4387G>C	c.(4387-4389)GAG>CAG	p.E1463Q		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1463	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ACACCTCTCTCTGTGTTTTTA	0.453		NaN											0	0	0	0.003271	0	25	48				
DSG2	1829	broad.mit.edu	37	18	29126318	29126318	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:29126318G>C	uc002kwu.3	+	15	3157	c.2969G>C	c.(2968-2970)AGA>ACA	p.R990T	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	990	Desmoglein repeat 4.|Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483		NaN											0	0	0	0.006214	0	10	27				
PIK3C3	5289	broad.mit.edu	37	18	39607448	39607448	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:39607448G>A	uc002lap.2	+	14	1584	c.1526G>A	c.(1525-1527)AGA>AAA	p.R509K	PIK3C3_uc010xcl.1_Missense_Mutation_p.R446K|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	509					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						ACTCAGCAGAGAGATCCAAAG	0.328		NaN								TSP Lung(28;0.18)			0	0	0	0.001984	0	6	71				
MALT1	10892	broad.mit.edu	37	18	56414989	56414989	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:56414989A>G	uc002lhm.1	+	17	2648	c.2390A>G	c.(2389-2391)CAT>CGT	p.H797R	MALT1_uc002lhn.1_Missense_Mutation_p.H786R	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	797					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						GCTTCATGTCATTTTAGTAGA	0.398		NaN	T	BIRC3	MALT								0	0	0	0.01441	0	49	170				
TMEM146	257062	broad.mit.edu	37	19	5727329	5727329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:5727329C>A	uc002mda.2	+	3	238	c.177C>A	c.(175-177)TGC>TGA	p.C59*	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	59	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AACATCCTTGCGAGAAAAATA	0.328		NaN											1	0	1.17739e-12	0.005443	1.49438e-12	25	78				
GIPR	2696	broad.mit.edu	37	19	46180989	46180989	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:46180989C>G	uc002pcu.1	+	10	975	c.876C>G	c.(874-876)GTC>GTG	p.V292V	GIPR_uc002pct.1_Silent_p.V292V|GIPR_uc010xxp.1_Silent_p.V256V|GIPR_uc010xxq.1_Intron	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	292	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCAACGAAGTCAAGGCCATTT	0.562		NaN											0	0	0	0.01441	0	60	249				
PLA2G4C	8605	broad.mit.edu	37	19	48601511	48601511	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:48601511C>T	uc002phx.2	-	6	851	c.453G>A	c.(451-453)CCG>CCA	p.P151P	PLA2G4C_uc002phw.2_Silent_p.P86P|PLA2G4C_uc010elr.2_Silent_p.P151P|PLA2G4C_uc010xzd.1_Silent_p.P161P|PLA2G4C_uc002phy.3_Silent_p.P151P	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	151	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATGAGACTCCGGCAGCTTTG	0.498		NaN											0	0	0	0.009096	0	4	47				
HSD17B14	51171	broad.mit.edu	37	19	49316806	49316806	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:49316806G>A	uc002pkv.1	-	8	812	c.546C>T	c.(544-546)ATC>ATT	p.I182I	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	182					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTCCTGGGGAGATACTAGAGG	0.607		NaN											0	0	0	0.001984	0	6	28				
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:54692102C>A	uc002qdq.2	-	4	441	c.175G>T	c.(175-177)GGG>TGG	p.G59W	MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.G41W|MBOAT7_uc002qdr.2_Missense_Mutation_p.G59W|MBOAT7_uc002qds.2_Missense_Mutation_p.R28L|MBOAT7_uc010yen.1_Missense_Mutation_p.R28L|MBOAT7_uc002qdt.3_Missense_Mutation_p.G59W|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	59	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622		NaN											1	0	3.67414e-24	0.012213	4.94884e-24	25	100				
MSGN1	343930	broad.mit.edu	37	2	17998336	17998336	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:17998336G>A	uc010yjt.1	+	1	551	c.551G>A	c.(550-552)CGC>CAC	p.R184H		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTAACCGCGGCAGAGAG	0.577		NaN											0	0	0	0.006122	0	13	49				
PLEKHH2	130271	broad.mit.edu	37	2	43939394	43939394	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:43939394A>T	uc010yny.1	+	15	2415	c.2332A>T	c.(2332-2334)ACT>TCT	p.T778S	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T777S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	778	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATACTATCTGACTGCAGATTC	0.408		NaN											0	0	0	0.003755	0	27	132				
USP34	9736	broad.mit.edu	37	2	61566811	61566811	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:61566811C>T	uc002sbe.2	-	17	2528	c.2506G>A	c.(2506-2508)GTA>ATA	p.V836I		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	836					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TTATGAACTACAGGTCCTGAA	0.328		NaN											0	0	0	0.001168	0	6	18				
DYSF	8291	broad.mit.edu	37	2	71892312	71892312	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:71892312G>A	uc002sie.2	+	46	5454	c.5078G>A	c.(5077-5079)CGG>CAG	p.R1693Q	DYSF_uc010feg.2_Missense_Mutation_p.R1724Q|DYSF_uc010feh.2_Missense_Mutation_p.R1700Q|DYSF_uc002sig.3_Missense_Mutation_p.R1679Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1714Q|DYSF_uc010fef.2_Missense_Mutation_p.R1731Q|DYSF_uc010fei.2_Missense_Mutation_p.R1710Q|DYSF_uc010fek.2_Missense_Mutation_p.R1711Q|DYSF_uc010fej.2_Missense_Mutation_p.R1701Q|DYSF_uc010fel.2_Missense_Mutation_p.R1680Q|DYSF_uc010feo.2_Missense_Mutation_p.R1725Q|DYSF_uc010fem.2_Missense_Mutation_p.R1715Q|DYSF_uc010fen.2_Missense_Mutation_p.R1732Q|DYSF_uc002sif.2_Missense_Mutation_p.R1694Q|DYSF_uc010yqy.1_Missense_Mutation_p.R574Q|DYSF_uc010yqz.1_Missense_Mutation_p.R454Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1693	Cytoplasmic (Potential).		R -> Q (in MMD1).|R -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AACCAGTGGCGGGACCAGCTC	0.562		NaN											0	0	0	0.01441	0	42	167				
AFF3	3899	broad.mit.edu	37	2	100209852	100209852	+	Silent	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:100209852T>C	uc002tag.2	-	14	2507	c.2271A>G	c.(2269-2271)CTA>CTG	p.L757L	AFF3_uc002taf.2_Silent_p.L782L|AFF3_uc010fiq.1_Silent_p.L757L|AFF3_uc010yvr.1_Silent_p.L910L|AFF3_uc002tah.1_Silent_p.L782L	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	757					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CACTGTCCTTTAGAGGGGAGA	0.577		NaN											0	0	0	0.004007	0	14	46				
RGPD3	653489	broad.mit.edu	37	2	107040980	107040980	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:107040980G>T	uc010ywi.1	-	20	3500	c.3443C>A	c.(3442-3444)GCA>GAA	p.A1148E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1148	RanBD1 1.				intracellular transport		binding			ovary(1)	1						AAATTTTGCTGCCAATCGCTC	0.453		NaN											1	0	1.06801e-11	0.009535	1.34264e-11	29	170				
RANBP2	5903	broad.mit.edu	37	2	109379691	109379691	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:109379691A>G	uc002tem.3	+	20	2824	c.2698_splice	c.e20-2	p.G900_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCTGTCTTTTAGGGCCCAGTC	0.398		NaN											0	0	0	0.006122	0	16	39				
NXPH2	11249	broad.mit.edu	37	2	139429145	139429145	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:139429145C>A	uc002tvi.2	-	2	142	c.142G>T	c.(142-144)GTG>TTG	p.V48L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	48	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTGAGTGCACCACGTTGCCG	0.542		NaN											1	0	5.43694e-19	0.005524	7.1057e-19	33	132				
LRP2	4036	broad.mit.edu	37	2	170097513	170097513	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:170097513C>G	uc002ues.2	-	25	4243	c.4030G>C	c.(4030-4032)GAG>CAG	p.E1344Q	LRP2_uc010zdf.1_Missense_Mutation_p.E1207Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1344	LDL-receptor class A 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGGGGACTCATCTGTCCCA	0.483		NaN											0	0	0	0.008361	0	28	78				
MAP1D	254042	broad.mit.edu	37	2	172928446	172928446	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:172928446A>G	uc002uhk.2	+	3	279	c.206A>G	c.(205-207)AAG>AGG	p.K69R	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	69					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AAGCACATAAAGAAGCCAGAC	0.458		NaN											0	0	0	0.001168	0	4	19				
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:179629296C>T	uc010zfg.1	-	42	10170	c.9946G>A	c.(9946-9948)GAC>AAC	p.D3316N	TTN_uc010zfh.1_Missense_Mutation_p.D3270N|TTN_uc010zfi.1_Missense_Mutation_p.D3270N|TTN_uc010zfj.1_Missense_Mutation_p.D3270N|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.D3316N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3316							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATAGTCATTCTTGGCT	0.453		NaN											0	0	0	0.004007	0	12	136				
XRCC5	7520	broad.mit.edu	37	2	216992289	216992289	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:216992289A>G	uc002vfy.2	+	8	969	c.829A>G	c.(829-831)ACA>GCA	p.T277A	XRCC5_uc002vfz.2_Missense_Mutation_p.T163A	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	277	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACTTGGACAGTTGTGGA	0.308		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	0.001855	0	12	47				
SIRPB2	284759	broad.mit.edu	37	20	1460373	1460373	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:1460373C>T	uc002wfg.2	-	2	651	c.423G>A	c.(421-423)TCG>TCA	p.S141S	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Silent_p.S3S	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	141	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane					0						TGCCTTCATCCGATTTCATTT	0.478		NaN											0	0	0	0.01441	0	79	192				
ITCH	83737	broad.mit.edu	37	20	33028050	33028050	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:33028050C>A	uc010geu.1	+	10	1085	c.893C>A	c.(892-894)TCT>TAT	p.S298Y	ITCH_uc002xak.2_Missense_Mutation_p.S257Y|ITCH_uc010zuj.1_Missense_Mutation_p.S147Y	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	298					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						ACAAATACATCTGAAGGAGCA	0.448		NaN											1	0	2.35188e-11	0.006122	2.90139e-11	17	59				
C20orf132	140699	broad.mit.edu	37	20	35743603	35743603	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:35743603C>T	uc010zvu.1	-	21	2629	c.2538G>A	c.(2536-2538)ATG>ATA	p.M846I	C20orf132_uc002xgk.2_Missense_Mutation_p.M468I	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)				ACAGGGTCCTCATCATGGCAG	0.458		NaN											0	0	0	0.001984	0	7	60				
SMTN	6525	broad.mit.edu	37	22	31486843	31486843	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:31486843C>T	uc003ajl.1	+	9	1133	c.915C>T	c.(913-915)CCC>CCT	p.P305P	SMTN_uc003ajk.1_Silent_p.P305P|SMTN_uc003ajm.1_Silent_p.P305P|SMTN_uc011ale.1_Silent_p.P359P|SMTN_uc011alf.1_Silent_p.P361P|SMTN_uc003ajn.1_Silent_p.P297P|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	305					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TGCTCAGCCCCCGCCAACCAG	0.622		NaN											0	0	0	0.01441	0	71	177				
DEPDC5	9681	broad.mit.edu	37	22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:32239701G>A	uc003als.2	+	29	2819	c.2677G>A	c.(2677-2679)GTC>ATC	p.V893I	DEPDC5_uc011als.1_Missense_Mutation_p.V824I|DEPDC5_uc011alu.1_Missense_Mutation_p.V902I|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.V893I|DEPDC5_uc003alu.2_Missense_Mutation_p.V342I|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.V223I|DEPDC5_uc003alw.2_Missense_Mutation_p.V191I|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	893					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CTCAGAGTTCGTCTCCTGCTG	0.498		NaN											0	0	0	0.01441	0	47	103				
ENTHD1	150350	broad.mit.edu	37	22	40161511	40161511	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:40161511G>A	uc003ayg.2	-	6	1187	c.936C>T	c.(934-936)CTC>CTT	p.L312L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	312										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GTGTTTCCAAGAGGTTTTCTG	0.413		NaN											0	0	0	0.01441	0	41	128				
LHFPL4	375323	broad.mit.edu	37	3	9547837	9547837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:9547837C>T	uc003bry.2	-	3	743	c.457G>A	c.(457-459)GAG>AAG	p.E153K		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	153						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					CGGATGGTCTCGGCATCCCAG	0.612		NaN											0	0	0	0.01441	0	71	101				
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:18427954C>T	uc003cbh.2	-	8	3091	c.1356G>A	c.(1354-1356)TTG>TTA	p.L452L	SATB1_uc003cbi.2_Silent_p.L452L|SATB1_uc003cbj.2_Silent_p.L452L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	452					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						AGGCAGCATTCAAGCTCCTTT	0.547		NaN											0	0	0	0.013537	0	8	175				
EFHB	151651	broad.mit.edu	37	3	19947209	19947209	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:19947209T>C	uc003cbl.3	-	6	1517	c.1321A>G	c.(1321-1323)AGT>GGT	p.S441G	EFHB_uc003cbm.2_Missense_Mutation_p.S311G	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	441					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						CTATGGAAACTTGATGGGTTA	0.398		NaN											0	0	0	0.00632	0	27	43				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:32031962A>G	uc011axg.1	+	2	1940	c.1391A>G	c.(1390-1392)CAT>CGT	p.H464R		NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGACCTTCCATCACAATTCA	0.418		NaN											0	0	0	0.001984	0	7	138				
MAP4	4134	broad.mit.edu	37	3	47958161	47958161	+	Missense_Mutation	SNP	T	T	C	rs142423472	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:47958161T>C	uc003csb.2	-	7	1682	c.1156A>G	c.(1156-1158)ATA>GTA	p.I386V	MAP4_uc003csc.3_Missense_Mutation_p.I386V|MAP4_uc011bbf.1_Missense_Mutation_p.I363V|MAP4_uc003csf.3_Missense_Mutation_p.I403V	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	386	17 X 14 AA tandem repeats.|26 residues 2.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCCATTTTTATAGGAGATGCC	0.453		NaN											0	0	0	0.00874	0	38	162				
MORC1	27136	broad.mit.edu	37	3	108812380	108812380	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:108812380G>T	uc003dxl.2	-	8	679	c.592C>A	c.(592-594)CTG>ATG	p.L198M	MORC1_uc011bhn.1_Missense_Mutation_p.L198M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	198					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TAAATAACCAGCAAAGTACCT	0.363		NaN											1	0	1.55795e-14	0.012319	2.01617e-14	17	41				
PLCH1	23007	broad.mit.edu	37	3	155206449	155206449	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:155206449C>A	uc011bok.1	-	19	2780	c.2503G>T	c.(2503-2505)GGC>TGC	p.G835C	PLCH1_uc011boj.1_Missense_Mutation_p.G835C|PLCH1_uc011bol.1_Missense_Mutation_p.G817C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	835					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATACCTACCAGGCACTAAG	0.418		NaN											1	0	2.35188e-11	0.006122	2.90139e-11	15	31				
CYTL1	54360	broad.mit.edu	37	4	5016903	5016903	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:5016903G>A	uc003gig.2	-	4	411	c.386C>T	c.(385-387)ACG>ATG	p.T129M		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	129					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGGCAGGACCGTAGTCACTGG	0.483		NaN											0	0	0	0.003954	0	18	49				
LRRC66	339977	broad.mit.edu	37	4	52862091	52862091	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:52862091C>T	uc003gzi.2	-	4	1110	c.1097G>A	c.(1096-1098)GGC>GAC	p.G366D		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	366						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CTCTTTTTTGCCGGCAGCCTG	0.592		NaN											0	0	0	0.001168	0	6	27				
SHROOM3	57619	broad.mit.edu	37	4	77700119	77700119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:77700119T>C	uc011cbx.1	+	11	6733	c.5780T>C	c.(5779-5781)ATG>ACG	p.M1927T	SHROOM3_uc003hkg.2_Missense_Mutation_p.M1705T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1927	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TTCGTGAAAATGAAGTCCACG	0.547		NaN											0	0	0	0.005443	0	24	82				
ANK2	287	broad.mit.edu	37	4	114286340	114286340	+	Splice_Site	SNP	T	T	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:114286340T>G	uc003ibe.3	+	41	11132	c.11032_splice	c.e41+2	p.G3678_splice	ANK2_uc003ibd.3_Splice_Site_p.G1584_splice|ANK2_uc003ibf.3_Splice_Site_p.G1593_splice|ANK2_uc011cgc.1_Splice_Site_p.G769_splice|ANK2_uc003ibg.3_Splice_Site_p.G577_splice|ANK2_uc003ibh.3_Splice_Site_p.G267_splice|ANK2_uc011cgd.1_Splice_Site_p.G980_splice	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAGTGAAGGTCAAACtgtgt	0.294		NaN											0	0	0	0.001984	0	7	49				
DCHS2	54798	broad.mit.edu	37	4	155191121	155191121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:155191121G>A	uc003inw.2	-	19	5143	c.5143C>T	c.(5143-5145)CAG>TAG	p.Q1715*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1715	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTCCTGAATTGAGTCA	0.338		NaN											0	0	0	0.005443	0	21	69				
ADAMTS6	11174	broad.mit.edu	37	5	64537939	64537939	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:64537939T>C	uc003jtp.2	-	15	2739	c.1925A>G	c.(1924-1926)TAT>TGT	p.Y642C	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.Y263C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	642					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ACCTCCAGTATAGGGTTTCCA	0.378		NaN											0	0	0	0.010729	0	9	40				
AQPEP	206338	broad.mit.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:115323525C>T	uc003kro.2	+	4	1158	c.994C>T	c.(994-996)CGG>TGG	p.R332W	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	332	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CATCTGGGCCCGGAAAGATGC	0.418		NaN											0	0	0	0.00245	0	13	75				
PCDHGA2	56113	broad.mit.edu	37	5	140718896	140718896	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140718896G>C	uc003ljk.1	+	1	543	c.358G>C	c.(358-360)GAG>CAG	p.E120Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E120Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	120	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATTCAGTAGAGGTGGAAAT	0.458		NaN											0	0	0	0.001984	0	5	54				
PCDHGB2	56103	broad.mit.edu	37	5	140740084	140740084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140740084G>A	uc003ljs.1	+	1	382	c.382G>A	c.(382-384)GAT>AAT	p.D128N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D128N	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	128	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATAAATGATAATACCCC	0.398		NaN											0	0	0	0.00245	0	14	29				
FAM8A1	51439	broad.mit.edu	37	6	17601039	17601039	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:17601039C>T	uc003ncc.2	+	1	522	c.399C>T	c.(397-399)AGC>AGT	p.S133S		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	133						integral to membrane					0	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGGCACAGCGGCCTGGCCG	0.637		NaN											0	0	0	0.00245	0	12	49				
HIST1H2AC	8334	broad.mit.edu	37	6	26124513	26124513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:26124513G>C	uc003ngm.2	+	1	141	c.53G>C	c.(52-54)CGC>CCC	p.R18P	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R18P	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	18					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGAAATCCCGCTCTTCTCGC	0.597		NaN											0	0	0	0.006122	0	13	38				
C6orf142	90523	broad.mit.edu	37	6	53989534	53989534	+	Silent	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:53989534C>A	uc003pcg.3	+	3	596	c.483C>A	c.(481-483)CCC>CCA	p.P161P	C6orf142_uc003pcf.2_Silent_p.P161P|C6orf142_uc003pch.3_Silent_p.P99P|C6orf142_uc011dwz.1_Silent_p.P120P|C6orf142_uc011dxa.1_Silent_p.P172P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	161						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTGTCCGGCCCAAGTCTCTAG	0.527		NaN											1	0	1.75199e-13	0.007291	2.24526e-13	23	68				
C6orf182	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:109484117C>T	uc010kdk.2	+	13	1904	c.1327C>T	c.(1327-1329)CGA>TGA	p.R443*	C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Nonsense_Mutation_p.R443*|C6orf182_uc003psy.3_Nonsense_Mutation_p.R443*	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	443						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TCATCCAATACGAGTTCATAA	0.358		NaN											0	0	0	0.001168	0	6	30				
THBS2	7058	broad.mit.edu	37	6	169632172	169632172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:169632172G>A	uc003qwt.2	-	14	2302	c.2054C>T	c.(2053-2055)GCG>GTG	p.A685V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	685	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCGTCGCCCGCGTAGCCTGT	0.622		NaN											0	0	0	0.012213	0	30	89				
SCIN	85477	broad.mit.edu	37	7	12680101	12680101	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:12680101C>G	uc003ssn.3	+	11	1750	c.1540C>G	c.(1540-1542)CAA>GAA	p.Q514E	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q267E	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	514	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACGCCTCTTTCAAGTCCGGAG	0.458		NaN											0	0	0	0.009096	0	3	21				
CNTNAP2	26047	broad.mit.edu	37	7	146829367	146829367	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:146829367T>A	uc003weu.1	+	8	1630	c.1114T>A	c.(1114-1116)TAT>AAT	p.Y372N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	372	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGGAACCCTATACGGTGCC	0.448		NaN								HNSCC(39;0.1)			0	0	0	0.013114	0	37	95				
SSPO	23145	broad.mit.edu	37	7	149522398	149522398	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:149522398C>T	uc010lpk.2	+	101	14025	c.14025C>T	c.(14023-14025)ACC>ACT	p.T4675T	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4675	TIL 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTATTCACCCTGGACTGTG	0.637		NaN											0	0	0	0.01441	0	67	135				
DEFA5	1670	broad.mit.edu	37	8	6914048	6914048	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:6914048C>A	uc003wra.1	-	1	212	c.172G>T	c.(172-174)GGT>TGT	p.G58C		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	58					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGTCTCCTACCTGAGGTTCTA	0.338		NaN											1	0	3.07112e-06	0.010729	3.61953e-06	8	77				
PLAT	5327	broad.mit.edu	37	8	42045071	42045071	+	Silent	SNP	G	G	A	rs114679748	by1000genomes	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:42045071G>A	uc003xos.2	-	6	593	c.384C>T	c.(382-384)TAC>TAT	p.Y128Y	PLAT_uc010lxf.1_Silent_p.Y45Y|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.Y82Y|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	128	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGGTCCTCGTAGCACGTGG	0.632		NaN											0	0	0	0.00499	0	13	42				
HSPA5	3309	broad.mit.edu	37	9	127999293	127999293	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:127999293C>G	uc004bpn.2	-	8	1799	c.1543G>C	c.(1543-1545)GAC>CAC	p.D515H		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	515					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	GTACCCTTGTCTTCAGCTGTC	0.438		NaN								Prostate(1;0.17)			0	0	0	0.01441	0	37	145				
LCN15	389812	broad.mit.edu	37	9	139656658	139656658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:139656658C>T	uc004cjd.2	-	5	527	c.502G>A	c.(502-504)GTC>ATC	p.V168I		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	168					lipid metabolic process	extracellular region	binding|transporter activity				0						GGCAGCATGACCATCATGTCC	0.657		NaN											0	0	0	0.00308	0	3	8				
FRMPD4	9758	broad.mit.edu	37	X	12736410	12736410	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:12736410C>T	uc004cuz.1	+	16	3971	c.3465C>T	c.(3463-3465)ACC>ACT	p.T1155T	FRMPD4_uc011mij.1_Silent_p.T1147T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1155					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CTGACGTGACCTGTGCATCTT	0.562		NaN											0	0	0	0.01441	0	60	52				
ZNF645	158506	broad.mit.edu	37	X	22291514	22291514	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:22291514C>T	uc004dai.1	+	1	455	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	136	C2H2-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TCATATCAAACGCCGCCATAA	0.438		NaN											0	0	0	0.013537	0	11	22				
EPHA2	1969	broad.mit.edu	37	1	16464437	16464437	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:16464437T>C	uc001aya.1	-	5	1360	c.1223A>G	c.(1222-1224)TAC>TGC	p.Y408C	EPHA2_uc010oca.1_Missense_Mutation_p.Y408C	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	408	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTGAAGGTGTAGTTCATGTG	0.627		NaN											0	0	0	0.00361	0	46	36				
ARHGEF10L	55160	broad.mit.edu	37	1	17939589	17939589	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:17939589G>A	uc001ban.2	+	8	805	c.646G>A	c.(646-648)GCC>ACC	p.A216T	ARHGEF10L_uc009vpe.1_Intron|ARHGEF10L_uc001bao.2_Intron|ARHGEF10L_uc001bap.2_Intron|ARHGEF10L_uc010ocr.1_Intron|ARHGEF10L_uc001baq.2_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	216					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAGAGATACGCCAGGACTAA	0.547		NaN											0	0	0	0.002836	0	28	126				
EIF4G3	8672	broad.mit.edu	37	1	21186926	21186926	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:21186926C>G	uc001bec.2	-	19	3284	c.3028G>C	c.(3028-3030)GAG>CAG	p.E1010Q	EIF4G3_uc010odi.1_Missense_Mutation_p.E614Q|EIF4G3_uc010odj.1_Missense_Mutation_p.E1009Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.E730Q|EIF4G3_uc001bed.2_Missense_Mutation_p.E1010Q|EIF4G3_uc001bef.2_Missense_Mutation_p.E1046Q|EIF4G3_uc001bee.2_Missense_Mutation_p.E1016Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1010	eIF3/EIF4A-binding (By similarity).|Potential.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCCTTTGCTCTTCTTGTTCT	0.428		NaN											0	0	0	0.00361	0	58	63				
BAI2	576	broad.mit.edu	37	1	32222088	32222088	+	Missense_Mutation	SNP	G	G	A	rs145025368		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:32222088G>A	uc001btn.2	-	4	704	c.350C>T	c.(349-351)GCG>GTG	p.A117V	BAI2_uc010ogp.1_Missense_Mutation_p.A105V|BAI2_uc010ogq.1_Missense_Mutation_p.A117V|BAI2_uc001bto.2_Missense_Mutation_p.A117V|BAI2_uc001btq.1_Missense_Mutation_p.A105V|BAI2_uc010ogr.1_Missense_Mutation_p.A105V	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	117	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGGCCACCGCCTCCTCGGG	0.687		NaN											0	0	0	0.004672	0	3	14				
CYP4B1	1580	broad.mit.edu	37	1	47279201	47279201	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:47279201C>G	uc001cqm.3	+	5	627	c.543C>G	c.(541-543)TTC>TTG	p.F181L	CYP4B1_uc009vyl.1_Missense_Mutation_p.F18L|CYP4B1_uc001cqn.3_Missense_Mutation_p.F181L|CYP4B1_uc009vym.2_Missense_Mutation_p.F166L|CYP4B1_uc010omk.1_Missense_Mutation_p.F18L|CYP4B1_uc010oml.1_Missense_Mutation_p.F18L	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	181					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					TTGACATCTTCTGCGATGTGG	0.572		NaN											0	0	0	0.008871	0	17	80				
SLC44A5	204962	broad.mit.edu	37	1	75862289	75862289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:75862289G>A	uc001dgu.2	-	3	175	c.31C>T	c.(31-33)CCC>TCC	p.P11S	SLC44A5_uc001dgt.2_Missense_Mutation_p.P11S|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc010oqz.1_Missense_Mutation_p.P50S|SLC44A5_uc010ora.1_Intron|SLC44A5_uc010orb.1_5'UTR	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	11	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TCCTCAGAGGGAGTATCTGCT	0.363		NaN											0	0	0	0.00361	0	63	51				
ARHGAP29	9411	broad.mit.edu	37	1	94697113	94697113	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:94697113G>C	uc001dqj.3	-	2	424	c.55C>G	c.(55-57)CAA>GAA	p.Q19E	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.Q19E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	19					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGAGTTGACCTGATGCC	0.388		NaN											0	0	0	0.005443	0	20	154				
DBT	1629	broad.mit.edu	37	1	100706396	100706396	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:100706396C>A	uc001dta.2	-	2	129	c.96G>T	c.(94-96)TTG>TTT	p.L32F	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	32					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATTTGGCTTCAAAACATGAA	0.323		NaN											1	0	5.82388e-19	0.00361	6.16791e-19	45	56				
ATP1A1	476	broad.mit.edu	37	1	116941293	116941293	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:116941293G>A	uc001ege.2	+	16	2514	c.2175G>A	c.(2173-2175)TTG>TTA	p.L725L	ATP1A1_uc010owv.1_Silent_p.L694L|ATP1A1_uc010oww.1_Silent_p.L725L|ATP1A1_uc010owx.1_Silent_p.L694L|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	725	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCAGCTTTGAAGAAAGCAG	0.483		NaN											0	0	0	0.004878	0	31	160				
PDE4DIP	9659	broad.mit.edu	37	1	144946680	144946680	+	Missense_Mutation	SNP	C	C	T	rs144942272		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:144946680C>T	uc001elw.3	-	5	872	c.581G>A	c.(580-582)CGG>CAG	p.R194Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R260Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R194Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R194Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	194	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTTTCTCCCGAGATAGCTG	0.458		NaN	T	PDGFRB	MPD								0	0	0	0.004482	0	8	67				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367739A>G	uc001end.3	+	85	10595	c.10560A>G	c.(10558-10560)AAA>AAG	p.K3520K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3445											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.244		NaN											0	0	0	0.009096	0	3	50				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254		NaN											0	0	0	0.006214	0	7	45				
ECM1	1893	broad.mit.edu	37	1	150484939	150484939	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:150484939C>T	uc001eus.2	+	8	1394	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W	ECM1_uc001eut.2_Missense_Mutation_p.R274W|ECM1_uc001euu.2_Missense_Mutation_p.R428W|ECM1_uc001euv.2_Missense_Mutation_p.R426W|ECM1_uc009wlu.2_Missense_Mutation_p.R159W	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	399	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTTGCCCGTCGGGCTCCTTA	0.567		NaN											0	0	0	0.00278	0	21	100				
FLG2	388698	broad.mit.edu	37	1	152325463	152325463	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:152325463C>T	uc001ezw.3	-	3	4872	c.4799G>A	c.(4798-4800)GGC>GAC	p.G1600D	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1600							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGGCTTGGCCGTAAGTGTG	0.507		NaN											0	0	0	0.00361	0	145	131				
F5	2153	broad.mit.edu	37	1	169510442	169510442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:169510442G>C	uc001ggg.1	-	13	4031	c.3886C>G	c.(3886-3888)CCA>GCA	p.P1296A		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1296	2-13.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.522		NaN											0	0	0	0.00361	0	151	173				
RYR2	6262	broad.mit.edu	37	1	237944916	237944916	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr1:237944916A>T	uc001hyl.1	+	89	12052	c.11932A>T	c.(11932-11934)ATG>TTG	p.M3978L	RYR2_uc010pya.1_Missense_Mutation_p.M393L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3978	Helical; Name=M2; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGAAGGATATGGTGGTCAT	0.318		NaN											0	0	0	0.000602	0	3	5				
ITGA8	8516	broad.mit.edu	37	10	15760899	15760899	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:15760899C>G	uc001ioc.1	-	2	210	c.210_splice	c.e2-1	p.T70_splice	ITGA8_uc010qcb.1_Splice_Site_p.T70_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GACACTCGCTCTGCAAAAGAG	0.607		NaN											0	0	0	0.00874	0	39	55				
FAM13C	220965	broad.mit.edu	37	10	61012730	61012730	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:61012730C>T	uc001jkn.2	-	13	1495	c.1361G>A	c.(1360-1362)CGT>CAT	p.R454H	FAM13C_uc001jko.2_Missense_Mutation_p.R356H|FAM13C_uc010qid.1_Missense_Mutation_p.R370H|FAM13C_uc010qie.1_Missense_Mutation_p.R371H|FAM13C_uc010qif.1_Missense_Mutation_p.R476H	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	454										ovary(2)	2						TCCCTGTGGACGGTCTTCATC	0.483		NaN											0	0	0	0.003271	0	29	53				
PDE6C	5146	broad.mit.edu	37	10	95396758	95396758	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:95396758C>G	uc001kiu.3	+	11	1558	c.1420C>G	c.(1420-1422)CAA>GAA	p.Q474E		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	474					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TTAGAAATTTCAAGAGAAGTT	0.289		NaN											0	0	0	0.008871	0	17	10				
NRAP	4892	broad.mit.edu	37	10	115401142	115401142	+	Silent	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:115401142A>G	uc001laj.2	-	13	1469	c.1305T>C	c.(1303-1305)GTT>GTC	p.V435V	NRAP_uc001lak.2_Silent_p.V400V|NRAP_uc001lal.3_Silent_p.V435V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	435	Nebulin 10.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCAGGCTGCCAACTTTCATAG	0.458		NaN											0	0	0	0.00361	0	51	26				
SEC23IP	11196	broad.mit.edu	37	10	121652431	121652431	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:121652431C>G	uc001leu.1	+	1	209	c.137C>G	c.(136-138)TCT>TGT	p.S46C	SEC23IP_uc010qtc.1_Missense_Mutation_p.L13V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	46	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCCTCCGCTTCTCCGGCCTCC	0.622		NaN											0	0	0	0.00361	0	50	9				
TACC2	10579	broad.mit.edu	37	10	123845062	123845062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr10:123845062G>C	uc001lfv.2	+	4	3407	c.3047G>C	c.(3046-3048)GGA>GCA	p.G1016A	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.G1016A|TACC2_uc010qtv.1_Missense_Mutation_p.G1016A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1016						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGCATCCAGGAGCTTCTGAA	0.557		NaN											0	0	0	0.007413	0	16	10				
MUC5B	727897	broad.mit.edu	37	11	1268537	1268537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:1268537C>A	uc009ycr.1	+	50	12137	c.12011C>A	c.(12010-12012)TCG>TAG	p.S4004*	MUC5B_uc001ltb.2_Nonsense_Mutation_p.S3479*	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3476	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGGCCACCTCGGGCATCTTG	0.672		NaN											1	0	2.87052e-16	0.005524	3.02731e-16	24	130				
TRPM5	29850	broad.mit.edu	37	11	2443523	2443523	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2443523G>A	uc001lwm.3	-	2	155	c.146C>T	c.(145-147)CCG>CTG	p.P49L	TRPM5_uc010qxl.1_Missense_Mutation_p.P49L|TRPM5_uc009ydn.2_Missense_Mutation_p.P49L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACAGACGGGGCCACTCC	0.662		NaN											0	0	0	0.004289	0	33	60				
NAP1L4	4676	broad.mit.edu	37	11	2975840	2975840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:2975840C>A	uc001lxc.2	-	12	1093	c.952G>T	c.(952-954)GAA>TAA	p.E318*	NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Nonsense_Mutation_p.E318*|NAP1L4_uc010qxn.1_Nonsense_Mutation_p.E318*	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	318					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TGTCCAATTTCAAAATCAGAG	0.448		NaN											1	0	7.11191e-15	0.002836	7.46899e-15	32	37				
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:3380678C>T	uc001lxt.2	-	6	1738	c.1560G>A	c.(1558-1560)AAG>AAA	p.K520K	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.K497K|ZNF195_uc001lxs.2_Silent_p.K448K|ZNF195_uc010qxr.1_Silent_p.K501K|ZNF195_uc009ydz.2_Silent_p.K475K|ZNF195_uc001lxu.2_Silent_p.K452K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403		NaN											0	0	0	0.009096	0	4	171				
HPS5	11234	broad.mit.edu	37	11	18322409	18322409	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:18322409C>T	uc001mod.1	-	9	1229	c.951G>A	c.(949-951)CAG>CAA	p.Q317Q	HPS5_uc001moe.1_Silent_p.Q203Q|HPS5_uc001mof.1_Silent_p.Q203Q	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	317						cytosol				ovary(1)|pancreas(1)|skin(1)	3						CTTGAACATTCTGAGGAATGA	0.323		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.003954	0	20	19				
ARHGAP1	392	broad.mit.edu	37	11	46700690	46700690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:46700690G>A	uc001ndd.2	-	13	1286	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	406	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGTGATGGCCGCATCCTTGGC	0.552		NaN											0	0	0	0.009096	0	4	107				
OR4X2	119764	broad.mit.edu	37	11	48267009	48267009	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:48267009C>T	uc001ngs.1	+	1	354	c.354C>T	c.(352-354)ATC>ATT	p.I118I		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	118	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGTGGCCATCTGCAAGCCCC	0.512		NaN											0	0	0	0.011902	0	44	47				
VWCE	220001	broad.mit.edu	37	11	61039180	61039180	+	Silent	SNP	C	C	T	rs141642839		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:61039180C>T	uc001nra.2	-	14	2031	c.1752G>A	c.(1750-1752)TCG>TCA	p.S584S	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	584	VWFC 4.					extracellular region	calcium ion binding			ovary(1)	1						GGTCACCAGGCGACCAGATCT	0.557		NaN											0	0	0	0.001984	0	6	40				
GANAB	23193	broad.mit.edu	37	11	62397103	62397103	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:62397103G>C	uc001nub.2	-	15	1824	c.1791C>G	c.(1789-1791)CCC>CCG	p.P597P	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.P619P|GANAB_uc001nuc.2_Silent_p.P500P|GANAB_uc010rma.1_Silent_p.P505P|GANAB_uc010rmb.1_Silent_p.P483P	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	597					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CCAGGACAAAGGGGCGTTCCA	0.597		NaN											0	0	0	0.00499	0	14	35				
DKFZp761E198	91056	broad.mit.edu	37	11	65547046	65547046	+	Silent	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:65547046T>C	uc001ofo.3	-	1	777	c.747A>G	c.(745-747)GCA>GCG	p.A249A		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	249	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		GCTTGAAGAGTGCCGGTGGCT	0.642		NaN											0	0	0	0.001168	0	5	6				
CCDC87	55231	broad.mit.edu	37	11	66360121	66360121	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:66360121C>T	uc001oiq.3	-	1	434	c.366G>A	c.(364-366)CTG>CTA	p.L122L	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	122										ovary(1)|skin(1)	2						GCTCGCTGCTCAGCAGCACGT	0.627		NaN									OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	48	57				
LRP5	4041	broad.mit.edu	37	11	68171050	68171050	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:68171050G>C	uc001ont.2	+	8	1759	c.1684G>C	c.(1684-1686)GAC>CAC	p.D562H	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	562	YWTD 8.|Beta-propeller 2.|LDL-receptor class B 10.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CTACTGGACTGACTGGCAGCG	0.597		NaN											0	0	0	0.005524	0	35	61				
MYO7A	4647	broad.mit.edu	37	11	76873903	76873903	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:76873903C>G	uc001oyb.2	+	14	1831	c.1559C>G	c.(1558-1560)ACA>AGA	p.T520R	MYO7A_uc010rsl.1_Missense_Mutation_p.T520R|MYO7A_uc010rsm.1_Missense_Mutation_p.T509R|MYO7A_uc001oyc.2_Missense_Mutation_p.T520R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	520	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						CCCCAGGGCACAGACACCACC	0.587		NaN											0	0	0	0.00361	0	70	73				
FAT3	120114	broad.mit.edu	37	11	92616246	92616246	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:92616246G>A	uc001pdj.3	+	23	12641	c.12624G>A	c.(12622-12624)CCG>CCA	p.P4208P	FAT3_uc001pdi.3_Silent_p.P648P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4208	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGCATCCCGTTCCGGAACC	0.657		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004007	0	14	96				
HYOU1	10525	broad.mit.edu	37	11	118919580	118919580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:118919580C>T	uc001puu.2	-	18	2204	c.2011G>A	c.(2011-2013)GAG>AAG	p.E671K	HYOU1_uc001put.2_Missense_Mutation_p.E636K|HYOU1_uc010ryu.1_Missense_Mutation_p.E629K|HYOU1_uc010ryv.1_Missense_Mutation_p.E560K|HYOU1_uc001pux.3_Missense_Mutation_p.E671K|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	671						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCCCTGCCTCTGCCTTCTCA	0.612		NaN											0	0	0	0.00361	0	46	40				
CCDC153	283152	broad.mit.edu	37	11	119061144	119061144	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:119061144G>C	uc010rze.1	-	7	586	c.498C>G	c.(496-498)CTC>CTG	p.L166L		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	166											0						GCTTGGCCAAGAGCCTGTCCA	0.562		NaN											0	0	0	0.00361	0	74	56				
TECTA	7007	broad.mit.edu	37	11	120989224	120989224	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:120989224G>C	uc010rzo.1	+	6	1000	c.1000G>C	c.(1000-1002)GAC>CAC	p.D334H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	334	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACACTTTTGACGGCTTCCT	0.557		NaN											0	0	0	0.003163	0	15	93				
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr11:133789947G>A	uc001qgx.3	-	18	3904	c.3673C>T	c.(3673-3675)CGC>TGC	p.R1225C		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCCCGGGCGAGGCCGGGCA	0.677		NaN											0	0	0	0.009535	0	27	18				
CHD4	1108	broad.mit.edu	37	12	6707456	6707456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:6707456C>T	uc001qpo.2	-	11	1782	c.1618G>A	c.(1618-1620)GAG>AAG	p.E540K	CHD4_uc001qpn.2_Missense_Mutation_p.E533K|CHD4_uc001qpp.2_Missense_Mutation_p.E537K	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	540	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACTGCCGCTCTGGCCGCCCC	0.572		NaN											0	0	0	0.00361	0	123	115				
KLRC4	8302	broad.mit.edu	37	12	10560257	10560257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:10560257G>C	uc001qye.2	-	4	654	c.472C>G	c.(472-474)CTA>GTA	p.L158V	KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C,	158	Extracellular (Potential).				cellular defense response	integral to membrane	binding|receptor activity				0						ATTATCTATAGAAAGCAGATC	0.274		NaN											0	0	0	0.00361	0	61	180				
ANO6	196527	broad.mit.edu	37	12	45823019	45823019	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:45823019G>C	uc001roo.2	+	20	2993	c.2658G>C	c.(2656-2658)ATG>ATC	p.M886I	ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.M907I|ANO6_uc010slg.1_Missense_Mutation_p.M868I	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	886	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TCAAAGATATGACGAAAAATA	0.388		NaN											0	0	0	0.004007	0	13	36				
ANKRD52	283373	broad.mit.edu	37	12	56641847	56641847	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:56641847G>C	uc001skm.3	-	18	2028	c.1938C>G	c.(1936-1938)ATC>ATG	p.I646M		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	646	ANK 18.						protein binding			ovary(2)	2						TGCGCTCCTTGATGAGGGCAG	0.637		NaN											0	0	0	0.008291	0	10	15				
GNS	2799	broad.mit.edu	37	12	65110565	65110565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:65110565G>A	uc001ssg.3	-	14	1785	c.1615C>T	c.(1615-1617)CGC>TGC	p.R539C	GNS_uc001ssf.2_Missense_Mutation_p.R483C|GNS_uc010ssq.1_Missense_Mutation_p.R571C|GNS_uc010ssr.1_Missense_Mutation_p.R519C	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	539						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACTGCCGCGATTGCTGAAC	0.473		NaN											0	0	0	0.010504	0	15	53				
TMTC2	160335	broad.mit.edu	37	12	83081401	83081401	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:83081401C>T	uc001szt.2	+	1	468	c.36C>T	c.(34-36)CTC>CTT	p.L12L	TMTC2_uc001szr.1_Silent_p.L12L|TMTC2_uc001szs.1_Silent_p.L12L|TMTC2_uc010suk.1_5'UTR	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	12						endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CTCTGGGGCTCGCCTTGTATC	0.627		NaN									OREG0022010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001368	0	11	25				
OAS2	4939	broad.mit.edu	37	12	113440781	113440781	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:113440781C>A	uc001tuj.2	+	6	1193	c.1053C>A	c.(1051-1053)TTC>TTA	p.F351L	OAS2_uc001tui.1_Missense_Mutation_p.F351L	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	351	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						TGGATAAGTTCATCAAGGAGT	0.507		NaN											1	0	2.37301e-105	0.00361	2.63551e-105	169	189				
WSB2	55884	broad.mit.edu	37	12	118480669	118480669	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:118480669C>T	uc001twr.2	-	4	634	c.536G>A	c.(535-537)CGC>CAC	p.R179H	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.R179H	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	179	WD 2.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCCAGATGCGAAGAGTCTT	0.458		NaN											0	0	0	0.009718	0	39	146				
GALNT9	50614	broad.mit.edu	37	12	132685671	132685671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:132685671C>G	uc001ukc.3	-	8	1515	c.1399G>C	c.(1399-1401)GAG>CAG	p.E467Q	GALNT9_uc009zyr.2_Missense_Mutation_p.E241Q|GALNT9_uc001ukb.2_Missense_Mutation_p.E324Q|GALNT9_uc001uka.2_Missense_Mutation_p.E101Q	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	467	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGTGCTACCTCTCCGTACGTG	0.607		NaN											0	0	0	0.004482	0	6	21				
FRY	10129	broad.mit.edu	37	13	32821530	32821530	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:32821530C>T	uc001utx.2	+	48	7395	c.6899C>T	c.(6898-6900)CCT>CTT	p.P2300L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTGTTTTACCTTCATACCAG	0.433		NaN											0	0	0	0.00361	0	67	88				
FREM2	341640	broad.mit.edu	37	13	39262725	39262725	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:39262725T>A	uc001uwv.2	+	1	1553	c.1244T>A	c.(1243-1245)GTG>GAG	p.V415E		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	415	CSPG 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGGAGGTAGTGGATCTAGAA	0.532		NaN											0	0	0	0.007413	0	18	55				
OR4K14	122740	broad.mit.edu	37	14	20482654	20482654	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:20482654G>T	uc010tky.1	-	1	699	c.699C>A	c.(697-699)AGC>AGA	p.S233R		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTTGGATGTGCTACCGGCAG	0.502		NaN											1	0	0.00307968	0.00308	0.00310442	8	15				
SLC7A8	23428	broad.mit.edu	37	14	23596404	23596404	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:23596404C>T	uc001wiz.2	-	11	2316	c.1590G>A	c.(1588-1590)GCG>GCA	p.A530A	SLC7A8_uc001wiw.2_Silent_p.A147A|SLC7A8_uc001wix.2_Silent_p.A327A|SLC7A8_uc010tnk.1_Silent_p.A306A|SLC7A8_uc010tnl.1_Silent_p.A425A|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_3'UTR	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	530					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGCTGCCCCGCCACGTCCT	0.617		NaN											0	0	0	0.003271	0	27	74				
CLEC14A	161198	broad.mit.edu	37	14	38724762	38724762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:38724762C>T	uc001wum.1	-	1	813	c.466G>A	c.(466-468)GGC>AGC	p.G156S		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	156	Extracellular (Potential).|C-type lectin.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCCTTCCAGCCTGCGGGCTCG	0.572		NaN											0	0	0	0.003755	0	30	32				
DAAM1	23002	broad.mit.edu	37	14	59820639	59820639	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:59820639G>C	uc001xdz.1	+	20	2468	c.2343G>C	c.(2341-2343)AAG>AAC	p.K781N	DAAM1_uc001xea.1_Missense_Mutation_p.K771N|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	781	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCAAAAAGAAGTTTGCAG	0.348		NaN											0	0	0	0.00245	0	11	47				
VTI1B	10490	broad.mit.edu	37	14	68120200	68120200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:68120200C>T	uc001xjt.2	-	5	952	c.556G>A	c.(556-558)GAA>AAA	p.E186K	VTI1B_uc010aqp.2_Missense_Mutation_p.E125K|VTI1B_uc001xju.2_Missense_Mutation_p.E145K	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	186	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CTCAAGTTTTCACTTGTGTTT	0.333		NaN											0	0	0	0.00245	0	12	46				
SIPA1L1	26037	broad.mit.edu	37	14	72196849	72196849	+	Silent	SNP	G	G	A	rs141905323		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:72196849G>A	uc001xms.2	+	18	5103	c.4755G>A	c.(4753-4755)TCG>TCA	p.S1585S	SIPA1L1_uc001xmt.2_Silent_p.S1564S|SIPA1L1_uc001xmu.2_Silent_p.S1564S|SIPA1L1_uc001xmv.2_Silent_p.S1585S|SIPA1L1_uc010ttm.1_Silent_p.S1039S|SIPA1L1_uc001xmw.2_Silent_p.S350S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1585					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAACACTGTCGGACGAGAGCA	0.557		NaN											0	0	0	0.001984	0	6	88				
BTBD7	55727	broad.mit.edu	37	14	93714878	93714878	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:93714878G>C	uc001ybo.2	-	9	2391	c.2065C>G	c.(2065-2067)CAG>GAG	p.Q689E	BTBD7_uc010aur.2_Missense_Mutation_p.Q214E|BTBD7_uc010two.1_Missense_Mutation_p.Q509E|BTBD7_uc001ybp.2_Missense_Mutation_p.Q338E	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	689										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTCGAATCTGAATTTCATAG	0.517		NaN											0	0	0	0.00623	0	29	32				
DICER1	23405	broad.mit.edu	37	14	95562743	95562743	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr14:95562743G>C	uc001ydw.2	-	24	4696	c.4514C>G	c.(4513-4515)TCT>TGT	p.S1505C	DICER1_uc010avh.1_Missense_Mutation_p.S403C|DICER1_uc001ydv.2_Missense_Mutation_p.S1495C|DICER1_uc001ydx.2_Missense_Mutation_p.S1505C|DICER1_uc001ydy.1_Missense_Mutation_p.S357C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1505					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCATCCCAAGAGCTGTAGTC	0.408		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.00333	0	24	55				
APBA2	321	broad.mit.edu	37	15	29346371	29346371	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:29346371A>G	uc001zck.2	+	3	491	c.284A>G	c.(283-285)GAG>GGG	p.E95G	APBA2_uc010azj.2_Missense_Mutation_p.E95G|APBA2_uc010uat.1_Missense_Mutation_p.E95G|APBA2_uc001zcl.2_Missense_Mutation_p.E95G|APBA2_uc010uas.1_Missense_Mutation_p.E95G	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	95	Poly-Glu.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGAGGAGGAGGGCATCACC	0.607		NaN											0	0	0	0.009096	0	3	170				
TMEM87A	25963	broad.mit.edu	37	15	42512293	42512293	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:42512293C>T	uc010udd.1	-	16	1603	c.1444G>A	c.(1444-1446)GAA>AAA	p.E482K		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	482	Poly-Glu.					integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCCTTTTGTTCATCCTCCTCC	0.318		NaN											0	0	0	0.004289	0	27	91				
DENND4A	10260	broad.mit.edu	37	15	66015201	66015201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:66015201G>A	uc002aph.2	-	12	1951	c.1573C>T	c.(1573-1575)CAG>TAG	p.Q525*	DENND4A_uc002api.2_Nonsense_Mutation_p.Q525*|DENND4A_uc002apj.3_Nonsense_Mutation_p.Q525*|DENND4A_uc010ujj.1_Nonsense_Mutation_p.Q525*	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GCCAATTGCTGATGCAAATTA	0.308		NaN											0	0	0	0.00308	0	7	27				
PAQR5	54852	broad.mit.edu	37	15	69677202	69677202	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:69677202C>T	uc002arz.2	+	5	744	c.366C>T	c.(364-366)GCC>GCT	p.A122A	PAQR5_uc002asa.2_Silent_p.A122A	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	122	Helical; Name=3; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						ACTATGGTGCCGTCAACCTCT	0.562		NaN											0	0	0	0.006122	0	16	19				
BTBD1	53339	broad.mit.edu	37	15	83698894	83698894	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:83698894C>T	uc002bjn.2	-	5	1252	c.1049G>A	c.(1048-1050)CGA>CAA	p.R350Q	BTBD1_uc002bjo.2_Missense_Mutation_p.R350Q	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	350						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		ATACCTGATTCGATCACTCGT	0.448		NaN											0	0	0	0.00361	0	187	388				
BTBD1	53339	broad.mit.edu	37	15	83735836	83735836	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:83735836G>A	uc002bjn.2	-	1	271	c.68C>T	c.(67-69)GCG>GTG	p.A23V	BTBD1_uc002bjo.2_Missense_Mutation_p.A23V	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	23						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		cggcggccccgcggggcccgg	0.582		NaN											0	0	0	0.009096	0	4	5				
MPG	4350	broad.mit.edu	37	16	135661	135661	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:135661G>A	uc002cfn.2	+	5	1100	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	MPG_uc002cfm.2_Missense_Mutation_p.R244Q|MPG_uc002cfo.2_Missense_Mutation_p.R256Q|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	261					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGCAGCCCGGGTGGGCGTC	0.657		NaN						BER_DNA_glycosylases					0	0	0	0.009096	0	4	6				
BTBD12	84464	broad.mit.edu	37	16	3639978	3639978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:3639978C>A	uc002cvp.2	-	12	4288	c.3661G>T	c.(3661-3663)GCG>TCG	p.A1221S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1221	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TCCGGCAGCGCCCCCTCATCC	0.607		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				1	0	5.35267e-07	0.007413	5.46146e-07	17	45				
ERCC4	2072	broad.mit.edu	37	16	14021928	14021928	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:14021928G>A	uc002dce.2	+	4	637	c.628G>A	c.(628-630)GAA>AAA	p.E210K	ERCC4_uc010bva.2_Missense_Mutation_p.E210K	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	210					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GCACAAACCTGAAGTTGTAGA	0.343		NaN	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.007835	0	29	77				
TAOK2	9344	broad.mit.edu	37	16	29996729	29996729	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:29996729G>A	uc002dva.1	+	14	2401	c.1618G>A	c.(1618-1620)GAA>AAA	p.E540K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E540K|TAOK2_uc002dvc.1_Missense_Mutation_p.E540K|TAOK2_uc010bzm.1_Missense_Mutation_p.E547K|TAOK2_uc002dvd.1_Missense_Mutation_p.E367K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	540	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GGCAGAGGCAGAAAAGCTGGC	0.672		NaN											0	0	0	0.000602	0	5	6				
ZNF267	10308	broad.mit.edu	37	16	31927296	31927296	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:31927296T>C	uc002ecs.3	+	4	1935	c.1726T>C	c.(1726-1728)TAC>CAC	p.Y576H		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	576	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AGAAAAACCATACAAATGTAA	0.383		NaN											0	0	0	0.006122	0	14	42				
MYLK3	91807	broad.mit.edu	37	16	46771856	46771856	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46771856C>T	uc002eei.3	-	3	884	c.768G>A	c.(766-768)GAG>GAA	p.E256E	MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	256					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTGAGGTTCTCGCTGGGTG	0.647		NaN											0	0	0	0.001368	0	11	42				
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46772020C>T	uc002eei.3	-	3	720	c.604G>A	c.(604-606)GAG>AAG	p.E202K	MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637		NaN											0	0	0	0.00308	0	6	13				
MYLK3	91807	broad.mit.edu	37	16	46773969	46773969	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773969C>T	uc002eei.3	-	2	684	c.568G>A	c.(568-570)GAG>AAG	p.E190K	MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	190					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCACTCACCTTCCCCAGGC	0.502		NaN											0	0	0	0.00333	0	12	155				
MYLK3	91807	broad.mit.edu	37	16	46773981	46773981	+	Missense_Mutation	SNP	C	C	T	rs55813660		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:46773981C>T	uc002eei.3	-	2	672	c.556G>A	c.(556-558)GAG>AAG	p.E186K	MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'Flank	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	186					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCCCAGGCTCCCTGGCATCA	0.473		NaN											0	0	0	0.003954	0	12	165				
CDH11	1009	broad.mit.edu	37	16	64981662	64981662	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:64981662A>C	uc002eoi.2	-	13	2669	c.2235T>G	c.(2233-2235)TAT>TAG	p.Y745*	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Nonsense_Mutation_p.Y619*	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	745	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCTGCCTTCATAACCGTAGA	0.527		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			0	0	0	0.008871	0	16	57				
C16orf55	124045	broad.mit.edu	37	16	89735693	89735693	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:89735693G>C	uc002fnw.1	+	3	209	c.209_splice	c.e3-1	p.E70_splice	C16orf55_uc010vpk.1_Splice_Site_p.E71_splice|C16orf55_uc002fny.1_Splice_Site	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045												0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTTTCCTCTAGAGAAACCTGA	0.458		NaN											0	0	0	0.004482	0	8	32				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	54	16		Valid		
MYH10	4628	broad.mit.edu	37	17	8379127	8379127	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:8379127C>G	uc002gll.2	-	41	6022	c.5926G>C	c.(5926-5928)GAG>CAG	p.E1976Q	MYH10_uc002glm.2_Missense_Mutation_p.E2007Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1985Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1976	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CAACTTTACTCTGACTGGGGT	0.562		NaN											0	0	0	0.00361	0	151	67				
SUZ12	23512	broad.mit.edu	37	17	30323833	30323833	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:30323833C>G	uc002hgs.2	+	15	2033	c.1811C>G	c.(1810-1812)TCT>TGT	p.S604C	SUZ12_uc002hgt.2_Missense_Mutation_p.S581C	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	604	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAAGAGTTTTCTGATGTTAAT	0.294		NaN	T	JAZF1	endometrial stromal tumours								0	0	0	0.00361	0	38	32				
GAS2L2	246176	broad.mit.edu	37	17	34077315	34077315	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34077315C>T	uc002hjv.1	-	2	436	c.408G>A	c.(406-408)GAG>GAA	p.E136E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	136	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAAGTCCTCCGTCTCGA	0.662		NaN											0	0	0	0.00632	0	27	260				
GAS2L2	246176	broad.mit.edu	37	17	34079717	34079717	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:34079717G>T	uc002hjv.1	-	1	181	c.153C>A	c.(151-153)GAC>GAA	p.D51E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	51	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGGCTGCGTCGATGTCCA	0.607		NaN											1	0	4.09166e-32	0.00361	4.44592e-32	60	87				
ACACA	31	broad.mit.edu	37	17	35615271	35615271	+	Silent	SNP	T	T	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:35615271T>G	uc002hnm.2	-	13	1605	c.1414A>C	c.(1414-1416)AGA>CGA	p.R472R	ACACA_uc002hnk.2_Silent_p.R394R|ACACA_uc002hnl.2_Silent_p.R414R|ACACA_uc002hnn.2_Silent_p.R472R|ACACA_uc002hno.2_Silent_p.R509R|ACACA_uc010cuz.2_Silent_p.R472R	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	472	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTGATTCTATATAGAGGA	0.403		NaN											0	0	0	0.009535	0	23	110				
ERBB2	2064	broad.mit.edu	37	17	37868200	37868200	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:37868200C>T	uc002hso.2	+	8	1159	c.921C>T	c.(919-921)GAC>GAT	p.D307D	ERBB2_uc002hsm.2_Silent_p.D277D|ERBB2_uc010cwa.2_Silent_p.D292D|ERBB2_uc002hsp.2_Silent_p.D110D|ERBB2_uc010cwb.2_Silent_p.D307D|ERBB2_uc010wek.1_Silent_p.D31D|ERBB2_uc002hsl.2_Silent_p.D277D|ERBB2_uc002hsn.1_Silent_p.D307D	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	307	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTCTACGGACGTGGGATCCT	0.577		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.010729	0	9	949				
TUBG2	27175	broad.mit.edu	37	17	40817733	40817733	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:40817733G>A	uc010wgr.1	+	8	987	c.731G>A	c.(730-732)CGC>CAC	p.R244H	TUBG2_uc002iaq.2_Missense_Mutation_p.R86H|TUBG2_uc002iar.2_Missense_Mutation_p.R91H|TUBG2_uc002ias.2_Missense_Mutation_p.R86H|TUBG2_uc002iap.2_Missense_Mutation_p.R91H	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	244					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACCACCCTGCGCTACCCCGGC	0.637		NaN											0	0	0	0.00361	0	78	162				
VAT1	10493	broad.mit.edu	37	17	41168155	41168155	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:41168155C>T	uc002icm.1	-	6	1225	c.1105G>A	c.(1105-1107)GAT>AAT	p.D369N	VAT1_uc010cyw.1_Missense_Mutation_p.D235N|VAT1_uc010whk.1_Missense_Mutation_p.D301N	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	369						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCATGGCATCAGCCACCTGG	0.567		NaN											0	0	0	0.008291	0	9	424				
BCAS3	54828	broad.mit.edu	37	17	59152341	59152341	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:59152341C>T	uc002iyv.3	+	21	2244	c.2135C>T	c.(2134-2136)TCT>TTT	p.S712F	BCAS3_uc002iyu.3_Missense_Mutation_p.S697F|BCAS3_uc002iyw.3_Missense_Mutation_p.S693F|BCAS3_uc002iyy.3_Missense_Mutation_p.S468F|BCAS3_uc002iyz.3_Missense_Mutation_p.S266F|BCAS3_uc002iza.3_Missense_Mutation_p.S251F	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	712						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTTAGCTTCTGACCATAGT	0.378		NaN											0	0	0	0.00361	0	64	112				
ABCA8	10351	broad.mit.edu	37	17	66899519	66899519	+	Silent	SNP	G	G	A	rs144614574		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr17:66899519G>A	uc002jhp.2	-	18	2579	c.2400C>T	c.(2398-2400)CTC>CTT	p.L800L	ABCA8_uc002jhq.2_Silent_p.L840L|ABCA8_uc010wqq.1_Silent_p.L840L|ABCA8_uc010wqr.1_Silent_p.L779L|ABCA8_uc002jhr.2_Silent_p.L840L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	800						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GCTGTCGCCAGAGAGCCACAC	0.433		NaN											0	0	0	0.00361	0	69	133				
DSG2	1829	broad.mit.edu	37	18	29125912	29125912	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:29125912C>A	uc002kwu.3	+	15	2751	c.2563C>A	c.(2563-2565)CAA>AAA	p.Q855K	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	855	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGAGCAGAGACAAAAACCTGC	0.388		NaN											1	0	0.000566183	0.00499	0.000573032	4	95				
C18orf34	374864	broad.mit.edu	37	18	30804901	30804901	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:30804901C>G	uc002kxn.2	-	16	1799	c.1657_splice	c.e16-1	p.K553_splice	C18orf34_uc010dme.1_Splice_Site_p.K67_splice|C18orf34_uc010xbr.1_Splice_Site_p.K553_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.K553_splice|C18orf34_uc002kxp.2_Splice_Site_p.K553_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1											ovary(1)	1						ATAGTTTTTTCTGCCAGCAAA	0.328		NaN											0	0	0	0.004007	0	13	50				
SEC11C	90701	broad.mit.edu	37	18	56816747	56816747	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:56816747C>T	uc002lht.2	+	2	146	c.90C>T	c.(88-90)CTC>CTT	p.L30L	SEC11C_uc010dpo.1_Silent_p.L30L|SEC11C_uc010xej.1_Silent_p.L30L	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	SEC11-like 3	30	Helical; Signal-anchor for type II membrane protein; (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity				0		Colorectal(73;0.175)				CATTCCAGCTCTATTACCAGG	0.448		NaN											0	0	0	0.00361	0	59	57				
ZCCHC2	54877	broad.mit.edu	37	18	60241918	60241918	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:60241918C>T	uc002lip.3	+	13	2604	c.2604C>T	c.(2602-2604)ATC>ATT	p.I868I	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.I338I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	868					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						CGGACCCCATCACAAAATCTG	0.507		NaN											0	0	0	0.004878	0	33	117				
VPS4B	9525	broad.mit.edu	37	18	61058250	61058250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr18:61058250C>G	uc002lix.2	-	11	1553	c.1293G>C	c.(1291-1293)TTG>TTC	p.L431F		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	431					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						TCTTTAATTTCAACAAGTCAT	0.353		NaN											0	0	0	0.012213	0	24	39				
C19orf26	255057	broad.mit.edu	37	19	1231042	1231042	+	Silent	SNP	C	C	A	rs75463186		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:1231042C>A	uc002lrm.2	-	9	1469	c.1194G>T	c.(1192-1194)TCG>TCT	p.S398S		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGGGGGGGCGAAGGGGGGC	0.716		NaN								HNSCC(14;0.022)			1	0	2.0095e-06	0.001984	2.04204e-06	6	28				
MUC16	94025	broad.mit.edu	37	19	9071151	9071151	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9071151G>C	uc002mkp.2	-	3	16499	c.16295C>G	c.(16294-16296)TCT>TGT	p.S5432C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5434	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTATGTCCAGACCCGGAAGT	0.522		NaN											0	0	0	0.001984	0	6	369				
MUC16	94025	broad.mit.edu	37	19	9076312	9076312	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:9076312T>C	uc002mkp.2	-	3	11338	c.11134A>G	c.(11134-11136)ACA>GCA	p.T3712A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3713	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCATGATCTGTAGAAACCATT	0.458		NaN											0	0	0	0.004878	0	32	123				
CARM1	10498	broad.mit.edu	37	19	11031771	11031771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:11031771C>G	uc002mpz.2	+	14	1709	c.1583C>G	c.(1582-1584)TCC>TGC	p.S528C	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.S311C	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	528	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GCCAGTGGCTCCAGCGTGGGC	0.662		NaN											0	0	0	0.003163	0	11	44				
BEST2	54831	broad.mit.edu	37	19	12864153	12864153	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12864153G>C	uc002mux.2	+	2	232	c.232G>C	c.(232-234)GTC>CTC	p.V78L		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	78	Helical; (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CCTCATCCCTGTCTCCTTCGT	0.552		NaN											0	0	0	0.00278	0	20	124				
ZNF257	113835	broad.mit.edu	37	19	22271633	22271633	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:22271633C>G	uc010ecx.2	+	4	1250	c.1081C>G	c.(1081-1083)CAA>GAA	p.Q361E	ZNF257_uc010ecy.2_Missense_Mutation_p.Q329E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTACTCAACATAAGAT	0.398		NaN											0	0	0	0.006122	0	13	37				
SIPA1L3	23094	broad.mit.edu	37	19	38655151	38655151	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:38655151C>G	uc002ohk.2	+	15	4322	c.3813C>G	c.(3811-3813)AGC>AGG	p.S1271R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1271					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCCAGCAGCAACACCCTCT	0.622		NaN											0	0	0	0.00361	0	72	139				
HNRNPUL1	11100	broad.mit.edu	37	19	41782119	41782119	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:41782119C>T	uc002oqb.3	+	5	991	c.702C>T	c.(700-702)CTC>CTT	p.L234L	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.L134L|HNRNPUL1_uc002oqa.3_Silent_p.L134L|HNRNPUL1_uc010ehm.2_Silent_p.L234L|HNRNPUL1_uc002oqc.3_Silent_p.L191L|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.L134L|HNRNPUL1_uc010ehn.2_Silent_p.L134L|HNRNPUL1_uc010eho.2_Silent_p.L134L|HNRNPUL1_uc010xvy.1_Silent_p.L134L|HNRNPUL1_uc010ehp.2_Silent_p.L90L|HNRNPUL1_uc010ehl.1_Silent_p.L134L	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	234	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						GCTATCCGCTCACAATTGAGG	0.512		NaN											0	0	0	0.00361	0	101	138				
PPP5C	5536	broad.mit.edu	37	19	46888119	46888119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:46888119T>C	uc002pem.2	+	7	917	c.857T>C	c.(856-858)CTT>CCT	p.L286P	PPP5C_uc010xya.1_Missense_Mutation_p.L153P|PPP5C_uc002pen.2_Missense_Mutation_p.L264P|PPP5C_uc010xyb.1_Missense_Mutation_p.L144P	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	286	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATCCTCACCCTTTTCGGCTTC	0.527		NaN											0	0	0	0.000602	0	3	139				
ZNF83	55769	broad.mit.edu	37	19	53116283	53116283	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:53116283G>C	uc002pzu.3	-	2	2779	c.1535C>G	c.(1534-1536)TCT>TGT	p.S512C	ZNF83_uc002pzv.3_Missense_Mutation_p.S512C|ZNF83_uc010eps.2_Missense_Mutation_p.S484C|ZNF83_uc010ept.2_Missense_Mutation_p.S512C|ZNF83_uc010epu.2_Missense_Mutation_p.S512C|ZNF83_uc010epv.2_Missense_Mutation_p.S512C|ZNF83_uc010epw.2_Missense_Mutation_p.S512C|ZNF83_uc010epx.2_Missense_Mutation_p.S484C|ZNF83_uc010epy.2_Missense_Mutation_p.S512C|ZNF83_uc010epz.2_Missense_Mutation_p.S484C	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACATGTGTTAGATTTCTTTCC	0.348		NaN											0	0	0	0.00361	0	44	75				
ZNF71	58491	broad.mit.edu	37	19	57133450	57133450	+	Silent	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:57133450C>G	uc002qnm.3	+	3	1033	c.795C>G	c.(793-795)ACC>ACG	p.T265T		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACGCACACCGGGGAGAAGC	0.672		NaN											0	0	0	0.010504	0	20	94				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:57955885C>G	uc002qoq.2	+	3	1623	c.1369C>G	c.(1369-1371)CAG>GAG	p.Q457E	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	457	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423		NaN											0	0	0	0.009096	0	3	151				
GEN1	348654	broad.mit.edu	37	2	17961316	17961316	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:17961316G>C	uc002rct.2	+	13	1409	c.1336G>C	c.(1336-1338)GAA>CAA	p.E446Q	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E446Q|GEN1_uc002rcu.2_Missense_Mutation_p.E446Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	446					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCATTGTTTGAAGCAGCATA	0.303		NaN						Homologous_recombination					0	0	0	0.00361	0	52	6				
PUM2	23369	broad.mit.edu	37	2	20508104	20508104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:20508104C>G	uc002rds.1	-	5	783	c.760G>C	c.(760-762)GGC>CGC	p.G254R	PUM2_uc002rdt.1_Missense_Mutation_p.G254R|PUM2_uc002rdr.2_Missense_Mutation_p.G193R|PUM2_uc010yjy.1_Missense_Mutation_p.G254R|PUM2_uc002rdu.1_Missense_Mutation_p.G254R|PUM2_uc010yjz.1_Missense_Mutation_p.G193R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	254	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAAAAGGCCTACAGTAGCT	0.433		NaN											0	0	0	0.00361	0	111	22				
XPO1	7514	broad.mit.edu	37	2	61706062	61706062	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:61706062C>G	uc002sbj.2	-	25	3837	c.3109G>C	c.(3109-3111)GAG>CAG	p.E1037Q	XPO1_uc010fcl.2_Missense_Mutation_p.E1033Q|XPO1_uc010ypn.1_Missense_Mutation_p.E1033Q|XPO1_uc002sbk.2_Missense_Mutation_p.E598Q|XPO1_uc002sbg.2_Missense_Mutation_p.E234Q|XPO1_uc002sbh.2_Missense_Mutation_p.E684Q	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	1037	HEAT 10.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATTTCTCTCTCTTCCAAAAAC	0.388		NaN											0	0	0	0.00361	0	52	44				
STARD7	56910	broad.mit.edu	37	2	96859074	96859074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:96859074C>G	uc002svm.3	-	4	967	c.566G>C	c.(565-567)AGA>ACA	p.R189T	STARD7_uc002svl.2_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	START domain containing 7 precursor	189	START.					mitochondrion					0						CCATTTTTTTCTATACTCTGT	0.443		NaN											0	0	0	0.00361	0	43	95				
BUB1	699	broad.mit.edu	37	2	111413469	111413469	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:111413469A>C	uc002tgc.2	-	16	1835	c.1723T>G	c.(1723-1725)TTT>GTT	p.F575V	BUB1_uc010yxh.1_Missense_Mutation_p.F555V|BUB1_uc010fkb.2_Missense_Mutation_p.F575V	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	575					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TCATCCAAAAACTCTTCAGCA	0.438		NaN											0	0	0	0.004482	0	7	228				
MYO7B	4648	broad.mit.edu	37	2	128389955	128389955	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:128389955G>A	uc002top.2	+	38	5359	c.5306G>A	c.(5305-5307)CGC>CAC	p.R1769H	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1769	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACTGCAGCCGCCGAATCCAG	0.682		NaN											0	0	0	0.006999	0	31	79				
MBD5	55777	broad.mit.edu	37	2	149226442	149226442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:149226442G>C	uc002twm.3	+	9	1918	c.930G>C	c.(928-930)ATG>ATC	p.M310I	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.M310I|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	310						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCAGTAATGAAAAAACCAA	0.448		NaN											0	0	0	0.004656	0	23	73				
TTN	7273	broad.mit.edu	37	2	179411950	179411950	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179411950G>A	uc010zfg.1	-	289	86822	c.86598C>T	c.(86596-86598)CAC>CAT	p.H28866H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H22561H|TTN_uc010zfi.1_Silent_p.H22494H|TTN_uc010zfj.1_Silent_p.H22369H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29793							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCACCATCGTGGTAGGGTT	0.443		NaN											0	0	0	0.004482	0	8	225				
TTN	7273	broad.mit.edu	37	2	179556797	179556797	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179556797C>G	uc010zfg.1	-	118	28200	c.27976G>C	c.(27976-27978)GAG>CAG	p.E9326Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5987Q|TTN_uc010fre.1_Missense_Mutation_p.E437Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10253							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTCCTCTGGCACGGGT	0.453		NaN											0	0	0	0.001855	0	12	35				
TTN	7273	broad.mit.edu	37	2	179582433	179582433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179582433G>A	uc010zfg.1	-	84	21660	c.21436C>T	c.(21436-21438)CAA>TAA	p.Q7146*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3807*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8073							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGACACTTGAAGAGGTTCT	0.398		NaN											0	0	0	0.003163	0	14	17				
TTN	7273	broad.mit.edu	37	2	179590304	179590304	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:179590304G>T	uc010zfg.1	-	68	17119	c.16895C>A	c.(16894-16896)TCC>TAC	p.S5632Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2293Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6559							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTTCTATGGATGCTTGTAA	0.423		NaN											1	0	1.66031e-10	0.003954	1.71497e-10	25	29				
SP100	6672	broad.mit.edu	37	2	231281027	231281027	+	Missense_Mutation	SNP	G	G	A	rs151275724	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:231281027G>A	uc002vqt.2	+	1	157	c.16G>A	c.(16-18)GGC>AGC	p.G6S	SP100_uc002vqs.2_Missense_Mutation_p.G6S|SP100_uc002vqu.1_Missense_Mutation_p.G6S|SP100_uc010zmb.1_Missense_Mutation_p.G6S|SP100_uc002vqq.1_Missense_Mutation_p.G6S|SP100_uc002vqr.1_Missense_Mutation_p.G6S|SP100_uc010zmc.1_Missense_Mutation_p.G6S|SP100_uc002vqv.1_5'Flank	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	6	Poly-Gly.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGTGGGGGCGGCGACCTGAG	0.592		NaN											0	0	0	0.004482	0	6	23				
FARP2	9855	broad.mit.edu	37	2	242433449	242433449	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:242433449G>A	uc002wbi.1	+	27	3191	c.3074G>A	c.(3073-3075)AGC>AAC	p.S1025N		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1025	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGGGCCAGCAGCTCAGCC	0.632		NaN											0	0	0	0.009535	0	30	65				
RALGAPA2	57186	broad.mit.edu	37	20	20506951	20506951	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:20506951G>C	uc002wrz.2	-	28	3781	c.3638C>G	c.(3637-3639)TCC>TGC	p.S1213C	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S917C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S661C|RALGAPA2_uc002wsa.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1213					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						CTCCCAGTAGGAAACCAGCAA	0.408		NaN											0	0	0	0.001368	0	9	31				
ZNF337	26152	broad.mit.edu	37	20	25656896	25656896	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:25656896G>C	uc002wva.2	-	4	1550	c.1028C>G	c.(1027-1029)TCA>TGA	p.S343*	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.S311*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.S343*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.S343*	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTCTCTCCTGAGTGTATTCT	0.498		NaN											0	0	0	0.003755	0	35	53				
NCOA6	23054	broad.mit.edu	37	20	33364214	33364214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:33364214C>T	uc002xav.2	-	5	2844	c.273G>A	c.(271-273)TGG>TGA	p.W91*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.W91*|NCOA6_uc010gew.1_Nonsense_Mutation_p.W91*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	91	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GCACGCTGTTCCAGGGCTCCA	0.473		NaN											0	0	0	0.013114	0	39	64				
PHF20	51230	broad.mit.edu	37	20	34526618	34526618	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526618G>T	uc002xek.1	+	16	2412	c.2301_splice	c.e16-1	p.Q767_splice		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20						regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CCTCTCAACAGAAGCCGGGAG	0.542		NaN											1	0	4.89347e-83	0.00361	5.38711e-83	148	247				
PHF20	51230	broad.mit.edu	37	20	34526935	34526935	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr20:34526935G>A	uc002xek.1	+	16	2728	c.2617G>A	c.(2617-2619)GAG>AAG	p.E873K		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CCCCCTCCATGAGAACGGCGA	0.632		NaN											0	0	0	0.006999	0	38	59				
TRAPPC10	7109	broad.mit.edu	37	21	45479022	45479022	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:45479022C>T	uc002zea.2	+	6	886	c.717C>T	c.(715-717)TTC>TTT	p.F239F	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Silent_p.F239F	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	239					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGCAGCAGTTCGAGGACGCCC	0.473		NaN											0	0	0	0.008361	0	22	51				
PCNT	5116	broad.mit.edu	37	21	47768968	47768968	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr21:47768968G>C	uc002zji.3	+	7	1182	c.1075G>C	c.(1075-1077)GAA>CAA	p.E359Q	PCNT_uc002zjj.2_Missense_Mutation_p.E241Q|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	359	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTTATGTTTAGAAAATCTACG	0.323		NaN											0	0	0	0.00361	0	41	112				
CECR2	27443	broad.mit.edu	37	22	17976513	17976513	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:17976513G>C	uc010gqw.1	+	2	300	c.174G>C	c.(172-174)CTG>CTC	p.L58L	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	100					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CCAACCCTCTGAGGGAAGCCA	0.567		NaN											0	0	0	0.010504	0	20	93				
TRIOBP	11078	broad.mit.edu	37	22	38119384	38119384	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:38119384A>C	uc003atr.2	+	7	1092	c.821A>C	c.(820-822)GAA>GCA	p.E274A	TRIOBP_uc003atu.2_Missense_Mutation_p.E102A|TRIOBP_uc003atq.1_Missense_Mutation_p.E274A|TRIOBP_uc003ats.1_Missense_Mutation_p.E102A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	274					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TCTACACGTGAAATCCCCAGA	0.592		NaN											0	0	0	0.012319	0	19	75				
POLDIP3	84271	broad.mit.edu	37	22	42999052	42999052	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:42999052C>G	uc003bcu.2	-	2	273	c.174G>C	c.(172-174)CAG>CAC	p.Q58H	POLDIP3_uc011app.1_5'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.Q58H|POLDIP3_uc011apq.1_Missense_Mutation_p.Q58H|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Missense_Mutation_p.Q58H	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	58					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						GGCCAATCTTCTGCCGGGCAT	0.557		NaN											0	0	0	0.00361	0	49	96				
PARVB	29780	broad.mit.edu	37	22	44532339	44532339	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:44532339G>A	uc003ben.2	+	7	686	c.634_splice	c.e7-1	p.K212_splice	PARVB_uc003bem.2_Splice_Site_p.K245_splice|PARVB_uc010gzn.2_Splice_Site_p.K160_splice|PARVB_uc003beo.2_Splice_Site_p.K175_splice	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGGGTTTTCAGAAACGGGAAG	0.542		NaN											0	0	0	0.005443	0	25	69				
HDAC10	83933	broad.mit.edu	37	22	50686355	50686355	+	Missense_Mutation	SNP	G	G	A	rs139748706		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr22:50686355G>A	uc003bkg.2	-	13	1674	c.1301C>T	c.(1300-1302)GCG>GTG	p.A434V	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.A160V|HDAC10_uc003bkf.2_Missense_Mutation_p.A160V|HDAC10_uc010hav.2_Missense_Mutation_p.A414V|HDAC10_uc003bkh.2_Missense_Mutation_p.A227V|HDAC10_uc003bki.2_Missense_Mutation_p.A384V|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_Missense_Mutation_p.A68V	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	434					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGCTGACGCTTCCTGTTG	0.652		NaN											0	0	0	0.006122	0	17	32				
CLASP2	23122	broad.mit.edu	37	3	33552094	33552094	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:33552094T>A	uc003cfu.2	-	36	4627	c.4273A>T	c.(4273-4275)ACC>TCC	p.T1425S	CLASP2_uc003cfs.2_Missense_Mutation_p.T632S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1434										ovary(3)|central_nervous_system(1)	4						AGGTTTAGGGTTTCCTTGGAC	0.398		NaN											0	0	0	0.001855	0	8	72				
WDR48	57599	broad.mit.edu	37	3	39093559	39093559	+	Missense_Mutation	SNP	G	G	T	rs147741658		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:39093559G>T	uc003cit.2	+	1	53	c.43G>T	c.(43-45)GTG>TTG	p.V15L	WDR48_uc011ayt.1_Missense_Mutation_p.V15L|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Missense_Mutation_p.V15L|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	15					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCGGAGGAAAGTGCAGGTATG	0.662		NaN											1	0	6.50621e-10	0.002836	6.66555e-10	27	60				
LZTFL1	54585	broad.mit.edu	37	3	45879482	45879482	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:45879482C>T	uc003cox.1	-	2	203	c.65G>A	c.(64-66)CGT>CAT	p.R22H	LZTFL1_uc003coy.1_Missense_Mutation_p.R5H|LZTFL1_uc011bak.1_Intron	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	22											0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TCTCTTTGAACGAGCAAAACG	0.393		NaN											0	0	0	0.00308	0	6	65				
CADPS	8618	broad.mit.edu	37	3	62739220	62739220	+	Missense_Mutation	SNP	C	C	T	rs150415917	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:62739220C>T	uc003dll.2	-	3	1144	c.784G>A	c.(784-786)GCA>ACA	p.A262T	CADPS_uc003dlm.2_Missense_Mutation_p.A262T|CADPS_uc003dln.2_Missense_Mutation_p.A262T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	262					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGGAGGCTGCGCTGGCTGTC	0.537		NaN											0	0	0	0.00361	0	60	63				
TMF1	7110	broad.mit.edu	37	3	69097297	69097297	+	Missense_Mutation	SNP	T	T	C	rs76863529	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:69097297T>C	uc003dnn.2	-	2	806	c.559A>G	c.(559-561)ATG>GTG	p.M187V	TMF1_uc011bfx.1_Missense_Mutation_p.M187V	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	187					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCACCTTCATATCCGATTCT	0.393		NaN											0	0	0	0.00361	0	42	144				
ARHGAP31	57514	broad.mit.edu	37	3	119134219	119134219	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:119134219C>G	uc003ecj.3	+	12	3975	c.3443C>G	c.(3442-3444)TCT>TGT	p.S1148C		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1148					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ATGACCTCATCTTACTGTAAA	0.532		NaN											0	0	0	0.00632	0	27	46				
PIK3R4	30849	broad.mit.edu	37	3	130449257	130449257	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:130449257G>C	uc003enj.2	-	5	2061	c.1480C>G	c.(1480-1482)CTG>GTG	p.L494V		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	494	HEAT 2.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AGGAATCTCAGAGCTGTTTCT	0.299		NaN											0	0	0	0.00623	0	34	51				
TOPBP1	11073	broad.mit.edu	37	3	133362908	133362908	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:133362908C>T	uc003eps.2	-	11	1936	c.1804G>A	c.(1804-1806)GAA>AAA	p.E602K		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	602	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						GCTTCCACTTCACACCCCAGC	0.423		NaN						Other_conserved_DNA_damage_response_genes					0	0	0	0.00361	0	54	102				
CHST2	9435	broad.mit.edu	37	3	142840195	142840195	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:142840195C>T	uc003evm.2	+	2	1426	c.537C>T	c.(535-537)TTC>TTT	p.F179F		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	179	PAPS (Probable).|Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCTCGTCGTTCTTCGGCGAGC	0.617		NaN											0	0	0	0.004656	0	26	29				
OTOL1	131149	broad.mit.edu	37	3	161221324	161221324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:161221324C>A	uc011bpb.1	+	4	1028	c.1028C>A	c.(1027-1029)TCG>TAG	p.S343*		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	343	C1q.					collagen					0						GTGCCCCGGTCGGCTTTCAGC	0.517		NaN											1	0	5.35356e-11	0.00278	5.55266e-11	18	31				
SOX2	6657	broad.mit.edu	37	3	181430953	181430953	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:181430953G>T	uc003fkx.2	+	1	1232	c.805G>T	c.(805-807)GAC>TAC	p.D269Y	SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	sex-determining region Y-box 2	269					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CCAGGCCGGGGACCTCCGGGA	0.682		NaN	A		NSCLC|oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						1	0	1.95512e-22	0.00361	2.09716e-22	47	84				
TBC1D19	55296	broad.mit.edu	37	4	26675453	26675453	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:26675453C>T	uc003gsf.3	+	11	1029	c.759C>T	c.(757-759)CCC>CCT	p.P253P	TBC1D19_uc010iew.2_Silent_p.P253P|TBC1D19_uc011bxu.1_Silent_p.P188P	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	253	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				AAGGAAGTCCCACGGCACTGA	0.408		NaN											0	0	0	0.001984	0	5	43				
PDGFRA	5156	broad.mit.edu	37	4	55139760	55139760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:55139760C>T	uc003han.3	+	10	1752	c.1421C>T	c.(1420-1422)ACG>ATG	p.T474M	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T368M|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	474	Ig-like C2-type 5.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AACATCATCACGGAGATCCAC	0.493		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00361	0	47	58				
C4orf14	84273	broad.mit.edu	37	4	57840060	57840060	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:57840060G>C	uc003hck.2	-	2	1348	c.1273C>G	c.(1273-1275)CAG>GAG	p.Q425E		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	425							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					ACATTAAGCTGATTTTGTTCT	0.368		NaN											0	0	0	0.003271	0	30	121				
SCARB2	950	broad.mit.edu	37	4	77102129	77102129	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:77102129C>G	uc003hju.1	-	3	740	c.401G>C	c.(400-402)AGA>ACA	p.R134T	SCARB2_uc011cbu.1_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	134	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			ATTTAATGTTCTAATTAAGTC	0.318		NaN											0	0	0	0.011902	0	38	18				
DKK2	27123	broad.mit.edu	37	4	107956668	107956668	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:107956668C>G	uc003hyi.2	-	1	786	c.81G>C	c.(79-81)CAG>CAC	p.Q27H	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.Q27H	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	27					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AACTGCCGATCTGTGAGCTCT	0.647		NaN											0	0	0	0.009096	0	4	166				
SMAD1	4086	broad.mit.edu	37	4	146463782	146463782	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:146463782A>G	uc003ikc.2	+	4	1123	c.707A>G	c.(706-708)CAG>CGG	p.Q236R	SMAD1_uc003ikd.2_Missense_Mutation_p.Q236R|SMAD1_uc010iov.2_Missense_Mutation_p.Q236R|SMAD1_uc011cic.1_Intron	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	236					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					CCCATGACCCAGGATGGCTCT	0.468		NaN											0	0	0	0.010504	0	19	384				
TLL1	7092	broad.mit.edu	37	4	166935664	166935664	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:166935664C>G	uc003irh.1	+	8	1641	c.994C>G	c.(994-996)CTA>GTA	p.L332V	TLL1_uc011cjn.1_Missense_Mutation_p.L332V|TLL1_uc011cjo.1_Missense_Mutation_p.L156V	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	332	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCGAACCCGTCTAAGCAAAGG	0.463		NaN											0	0	0	0.000602	0	4	184				
TLR3	7098	broad.mit.edu	37	4	187004826	187004826	+	Silent	SNP	C	C	T	rs149490656		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:187004826C>T	uc003iyq.2	+	4	2087	c.1986C>T	c.(1984-1986)AAC>AAT	p.N662N	TLR3_uc011ckz.1_Silent_p.N385N|TLR3_uc003iyr.2_Silent_p.N385N	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	662	Lumenal (Potential).|LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTGGATTAACGAGACCCATA	0.443		NaN											0	0	0	0.00361	0	89	65				
KIAA0947	23379	broad.mit.edu	37	5	5476116	5476116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:5476116G>C	uc003jdm.3	+	17	6666	c.6444G>C	c.(6442-6444)TGG>TGC	p.W2148C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2148										ovary(1)|central_nervous_system(1)	2						TGGATAAATGGATAAAATACA	0.313		NaN											0	0	0	0.009096	0	3	38				
ADCY2	108	broad.mit.edu	37	5	7773125	7773125	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:7773125C>T	uc003jdz.1	+	18	2362	c.2295C>T	c.(2293-2295)ATC>ATT	p.I765I	ADCY2_uc011cmo.1_Silent_p.I585I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	765	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						AGATGTTGATCATGATGGTGG	0.527		NaN											0	0	0	0.00361	0	47	199				
ITGA2	3673	broad.mit.edu	37	5	52351969	52351969	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:52351969C>T	uc003joy.2	+	9	1229	c.1086C>T	c.(1084-1086)TTC>TTT	p.F362F	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.F286F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	362	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACAAATTTTCAGCATTGAAG	0.299		NaN											0	0	0	0.010504	0	19	54				
RAB3C	115827	broad.mit.edu	37	5	58021940	58021940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:58021940C>T	uc003jrp.2	+	3	461	c.364C>T	c.(364-366)CAA>TAA	p.Q122*		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	122					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAATGCAGTACAAGATTGGTA	0.398		NaN											0	0	0	0.005443	0	26	48				
CDK7	1022	broad.mit.edu	37	5	68531243	68531243	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68531243G>C	uc003jvs.3	+	2	270	c.89G>C	c.(88-90)AGA>ACA	p.R30T	CDK7_uc010ixd.1_Missense_Mutation_p.R30T|CDK7_uc003jvt.3_5'UTR|CDK7_uc003jvu.3_5'UTR	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	30	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TACAAGGCCAGAGATAAGAAC	0.333		NaN						NER					0	0	0	0.007413	0	16	42				
CCDC125	202243	broad.mit.edu	37	5	68616096	68616096	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:68616096C>G	uc003jvv.1	-	1	315	c.272G>C	c.(271-273)AGA>ACA	p.R91T	CCDC125_uc003jvx.1_Missense_Mutation_p.R91T|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.R91T	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	91						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ATTGGAAATTCTGGACACTTG	0.418		NaN											0	0	0	0.00361	0	71	139				
RIOK2	55781	broad.mit.edu	37	5	96500768	96500768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:96500768G>A	uc003kmz.2	-	9	1591	c.1481C>T	c.(1480-1482)TCA>TTA	p.S494L		NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	494	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGGAATTGTTGAACAGCTTAC	0.358		NaN											0	0	0	0.010818	0	27	58				
CSNK1G3	1456	broad.mit.edu	37	5	122881389	122881389	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:122881389C>G	uc003ktm.2	+	2	751	c.32C>G	c.(31-33)TCA>TGA	p.S11*	CSNK1G3_uc003ktl.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003ktn.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc003kto.2_Nonsense_Mutation_p.S11*|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Nonsense_Mutation_p.S11*	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGGACAAATCAGATGATAGA	0.408		NaN											0	0	0	0.001368	0	11	33				
CHSY3	337876	broad.mit.edu	37	5	129520128	129520128	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:129520128G>A	uc003kvd.2	+	3	1293	c.1293G>A	c.(1291-1293)ATG>ATA	p.M431I		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	431	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGCCCTGATGAGCAAGCTCA	0.502		NaN											0	0	0	0.010729	0	9	86				
KLHL3	26249	broad.mit.edu	37	5	136969816	136969816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:136969816G>A	uc010jek.2	-	12	1804	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	KLHL3_uc011cyc.1_Missense_Mutation_p.R189C|KLHL3_uc003lbr.3_Missense_Mutation_p.R372C|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.R189C	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	454	Kelch 4.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGACACTGGCGGGAAGCTCCA	0.557		NaN											0	0	0	0.004672	0	3	92				
WNT8A	7478	broad.mit.edu	37	5	137426224	137426224	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:137426224G>A	uc003lcd.1	+	6	523	c.518G>A	c.(517-519)AGA>AAA	p.R173K	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.R191K|WNT8A_uc011cyk.1_Missense_Mutation_p.R191K	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	173					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGGCAGTGAGAGCCACCATG	0.453		NaN											0	0	0	0.004656	0	21	30				
PCDHA10	56139	broad.mit.edu	37	5	140237156	140237156	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140237156C>T	uc003lhx.2	+	1	1523	c.1523C>T	c.(1522-1524)TCG>TTG	p.S508L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.S508L|PCDHA10_uc011dad.1_Missense_Mutation_p.S508L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	508	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTGCACGCG	0.692		NaN											0	0	0	0.00361	0	44	116				
PCDHB9	56127	broad.mit.edu	37	5	140569145	140569145	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140569145G>A	uc003liw.1	+	3	2254	c.2254G>A	c.(2254-2256)GAG>AAG	p.E752K	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	752	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.622		NaN											0	0	0	0.00361	0	71	170				
PCDHB9	56127	broad.mit.edu	37	5	140569220	140569220	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140569220C>T	uc003liw.1	+	3	2329	c.2329C>T	c.(2329-2331)CAT>TAT	p.H777Y	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	777	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCGCCCCATAGGGGTGG	0.463		NaN											0	0	0	0.00361	0	45	96				
PCDHGA10	56106	broad.mit.edu	37	5	140793096	140793096	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:140793096G>A	uc003lkl.1	+	1	354	c.354G>A	c.(352-354)GTG>GTA	p.V118V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V118V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	118	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACAGGGTGAAACTTTTTG	0.463		NaN											0	0	0	0.010504	0	19	32				
GPR151	134391	broad.mit.edu	37	5	145894805	145894805	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:145894805G>C	uc003lod.1	-	1	872	c.872C>G	c.(871-873)TCT>TGT	p.S291C		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	291	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGACTTGAGACAGGGCTAT	0.502		NaN											0	0	0	0.007413	0	17	38				
ZFP2	80108	broad.mit.edu	37	5	178359437	178359437	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:178359437A>T	uc003mjn.1	+	5	1632	c.1123A>T	c.(1123-1125)ATT>TTT	p.I375F	ZFP2_uc010jky.2_Missense_Mutation_p.I375F|ZFP2_uc010jkx.1_Missense_Mutation_p.I375F	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	375	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GCATCAGGTCATTCACACTGG	0.423		NaN											0	0	0	0.010729	0	9	82				
MAML1	9794	broad.mit.edu	37	5	179201773	179201773	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr5:179201773G>T	uc003mkm.2	+	5	3209	c.2946G>T	c.(2944-2946)GGG>GGT	p.G982G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	982					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGTGGGCTCTCTAGTG	0.627		NaN											1	0	1.37657e-19	0.012319	1.46406e-19	22	52				
BTN2A2	10385	broad.mit.edu	37	6	26393028	26393028	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:26393028T>C	uc003nhq.2	+	8	1491	c.1405T>C	c.(1405-1407)TAC>CAC	p.Y469H	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.Y353H|BTN2A2_uc011dkh.1_Missense_Mutation_p.Y259H|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.Y469H|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	469	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						ATCGCACATCTACACATGTCC	0.542		NaN											0	0	0	0.001368	0	10	80				
TNXB	7148	broad.mit.edu	37	6	31977552	31977552	+	Silent	SNP	C	C	G	rs77471377		TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:31977552C>G	uc011dpc.1	-	12	2352	c.1443G>C	c.(1441-1443)CGG>CGC	p.R481R		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4097	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGGCCGCTCCCGGTTGCCGT	0.667		NaN											0	0	0	0.001168	0	3	31				
CUL7	9820	broad.mit.edu	37	6	43011253	43011253	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:43011253G>A	uc003otq.2	-	17	3591	c.3288C>T	c.(3286-3288)CTC>CTT	p.L1096L	CUL7_uc010jyg.2_Silent_p.L375L|CUL7_uc011dvb.1_Silent_p.L1180L|CUL7_uc010jyh.2_Silent_p.L89L|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1096					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGGTGAGTGAGACGGCGCA	0.647		NaN											0	0	0	0.00361	0	79	12				
RIMS1	22999	broad.mit.edu	37	6	73110200	73110200	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:73110200G>C	uc003pga.2	+	34	4940	c.4863G>C	c.(4861-4863)GTG>GTC	p.V1621V	RIMS1_uc011dyb.1_Silent_p.V1018V|RIMS1_uc003pgc.2_Silent_p.V1036V|RIMS1_uc010kaq.2_Silent_p.V941V|RIMS1_uc011dyc.1_Silent_p.V746V|RIMS1_uc010kar.2_Silent_p.V689V|RIMS1_uc011dyd.1_Silent_p.V755V|RIMS1_uc003pgf.2_Silent_p.V621V|RIMS1_uc003pgg.2_Silent_p.V517V|RIMS1_uc003pgi.2_Silent_p.V437V|RIMS1_uc003pgh.2_Silent_p.V488V|RIMS1_uc003pgd.2_Silent_p.V687V|RIMS1_uc003pge.2_Silent_p.V661V|RIMS1_uc011dye.1_Silent_p.V427V|RIMS1_uc011dyf.1_Silent_p.V245V|RIMS1_uc011dyg.1_Silent_p.V148V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1621	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCTGCAGGTGATTGTCTGGG	0.478		NaN											0	0	0	0.010729	0	11	43				
DOPEY1	23033	broad.mit.edu	37	6	83818645	83818645	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:83818645C>G	uc003pjs.1	+	5	597	c.337C>G	c.(337-339)CTT>GTT	p.L113V	DOPEY1_uc011dyy.1_Missense_Mutation_p.L113V|DOPEY1_uc010kbl.1_Missense_Mutation_p.L113V	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	113					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTATTTCCTCTTCTTGCAAA	0.313		NaN											0	0	0	0.007291	0	24	56				
KLHL32	114792	broad.mit.edu	37	6	97561859	97561859	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:97561859C>T	uc010kcm.1	+	7	1300	c.828C>T	c.(826-828)GTC>GTT	p.V276V	KLHL32_uc003poy.2_Silent_p.V276V|KLHL32_uc011ead.1_Silent_p.V240V|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.V207V|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	276										ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CACAGCCTGTCTGGCAGACTC	0.542		NaN											0	0	0	0.004878	0	31	43				
FIG4	9896	broad.mit.edu	37	6	110110816	110110816	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:110110816G>A	uc003ptt.2	+	19	2331	c.2116G>A	c.(2116-2118)GTT>ATT	p.V706I	FIG4_uc011eau.1_Missense_Mutation_p.V429I	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	706					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCTAAGACCGTTGGAATTGA	0.358		NaN											0	0	0	0.007291	0	22	63				
SYNE1	23345	broad.mit.edu	37	6	152772267	152772267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:152772267G>A	uc010kiw.2	-	26	3703	c.3101C>T	c.(3100-3102)TCT>TTT	p.S1034F	SYNE1_uc003qot.3_Missense_Mutation_p.S1041F|SYNE1_uc003qou.3_Missense_Mutation_p.S1034F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1017F|SYNE1_uc003qow.2_Missense_Mutation_p.S329F|SYNE1_uc003qox.1_Missense_Mutation_p.S550F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1034	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTACAGAGGCTAAGAA	0.443		NaN								HNSCC(10;0.0054)			0	0	0	0.00623	0	37	70				
EZR	7430	broad.mit.edu	37	6	159192335	159192335	+	Missense_Mutation	SNP	G	G	C	rs139648265	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:159192335G>C	uc003qrt.3	-	8	1115	c.900C>G	c.(898-900)ATC>ATG	p.I300M	EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Missense_Mutation_p.I268M|EZR_uc003qru.3_Missense_Mutation_p.I300M	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	300	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCACCTCGATGGTGTCAG	0.597		NaN											0	0	0	0.007413	0	17	46				
PNLDC1	154197	broad.mit.edu	37	6	160239602	160239602	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:160239602C>T	uc003qsx.1	+	16	1311	c.1140C>T	c.(1138-1140)CCC>CCT	p.P380P	PNLDC1_uc003qsy.1_Silent_p.P391P	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	380	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACCCCGTGCCCGAGTCATCCT	0.552		NaN											0	0	0	0.012319	0	18	37				
DLL1	28514	broad.mit.edu	37	6	170597419	170597419	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr6:170597419C>T	uc003qxm.2	-	4	1048	c.578G>A	c.(577-579)CGT>CAT	p.R193H	DLL1_uc011ehc.1_Missense_Mutation_p.R193H	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	193	Extracellular (Potential).|DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCCCGGGGACGGCAGAAAAC	0.622		NaN											0	0	0	0.012213	0	24	49				
MICALL2	79778	broad.mit.edu	37	7	1487240	1487240	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487240C>T	uc003skj.3	-	4	643	c.496G>A	c.(496-498)GAG>AAG	p.E166K		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	166						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTGCACCCTCATTCCTCCTC	0.677		NaN											0	0	0	0.006214	0	6	16				
MICALL2	79778	broad.mit.edu	37	7	1487250	1487250	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:1487250C>G	uc003skj.3	-	4	633	c.486G>C	c.(484-486)CAG>CAC	p.Q162H		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	162						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CATTCCTCCTCTGGACCACAG	0.672		NaN											0	0	0	0.006214	0	6	15				
DFNA5	1687	broad.mit.edu	37	7	24745981	24745981	+	Silent	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:24745981G>T	uc010kus.1	-	8	1093	c.1005C>A	c.(1003-1005)GTC>GTA	p.V335V	DFNA5_uc003swz.2_Silent_p.V171V|DFNA5_uc003sxa.1_Silent_p.V335V|DFNA5_uc010kut.1_Silent_p.V171V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	335					sensory perception of sound					ovary(1)	1						AGAGGCCGCTGACCAGGTCAT	0.647		NaN											1	0	6.32553e-13	0.004656	6.588e-13	21	14				
NFE2L3	9603	broad.mit.edu	37	7	26224981	26224981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:26224981G>A	uc003sxq.2	+	4	1935	c.1663G>A	c.(1663-1665)GTC>ATC	p.V555I		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	555					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						AGATGAAATTGTCGGCATGCC	0.398		NaN											0	0	0	0.001855	0	11	81				
LOC402644	402644	broad.mit.edu	37	7	28319234	28319234	+	Missense_Mutation	SNP	A	A	C	rs177484	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:28319234A>C	uc010kuz.1	-	1	85	c.85T>G	c.(85-87)TTT>GTT	p.F29V		NM_001126493	NP_001119965			hypothetical protein LOC402644												0						GTCTTTGGAAACTTTTCTGCA	0.468		NaN											0	0	0	0.009096	0	3	62				
AMPH	273	broad.mit.edu	37	7	38543250	38543250	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:38543250C>T	uc003tgu.2	-	3	274	c.205G>A	c.(205-207)GGC>AGC	p.G69S	AMPH_uc003tgv.2_Missense_Mutation_p.G69S	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	69	BAR.|Potential.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TACACATTACCTTTGATTGCT	0.393		NaN											0	0	0	0.00361	0	129	87				
IKZF1	10320	broad.mit.edu	37	7	50468280	50468280	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50468280C>T	uc003tow.3	+	9	1683	c.1515C>T	c.(1513-1515)TTC>TTT	p.F505F	IKZF1_uc003tox.3_Silent_p.F463F|IKZF1_uc003toy.3_Silent_p.F463F|IKZF1_uc011kck.1_Silent_p.F418F|IKZF1_uc003toz.3_Silent_p.F475F|IKZF1_uc010kyx.2_Silent_p.F245F|IKZF1_uc003tpa.3_Silent_p.F247F	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	505	C2H2-type 6.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGTACGAGTTCTCGTCGCACA	0.607		NaN	D		ALL								0	0	0	0.009535	0	24	46				
GRB10	2887	broad.mit.edu	37	7	50660679	50660679	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:50660679G>C	uc003tpi.2	-	16	1786	c.1755C>G	c.(1753-1755)CTC>CTG	p.L585L	GRB10_uc003tph.3_Silent_p.L527L|GRB10_uc003tpj.2_Silent_p.L539L|GRB10_uc003tpk.2_Silent_p.L585L|GRB10_uc010kzb.2_Silent_p.L527L|GRB10_uc003tpl.2_Silent_p.L579L|GRB10_uc003tpm.2_Silent_p.L527L|GRB10_uc003tpn.2_Silent_p.L527L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	585					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					AGTGGTGCTTGAGTTTGCAAG	0.522		NaN							Russell-Silver_syndrome				0	0	0	0.00361	0	88	106				
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:70255920C>T	uc003tvw.3	+	19	4461	c.3718C>T	c.(3718-3720)CTG>TTG	p.L1240L	AUTS2_uc003tvx.3_Silent_p.L1216L|AUTS2_uc011keg.1_Silent_p.L692L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1240										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622		NaN											0	0	0	0.001855	0	13	15				
TYW1B	441250	broad.mit.edu	37	7	72193853	72193853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:72193853G>A	uc011kej.1	-	12	1288	c.1129C>T	c.(1129-1131)CAG>TAG	p.Q377*	TYW1B_uc011keh.1_Nonsense_Mutation_p.Q215*|TYW1B_uc011kei.1_Nonsense_Mutation_p.Q3*|TYW1B_uc011kek.1_RNA	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	377					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0						ATTTCAGGCTGGTCCATCTTC	0.423		NaN											0	0	0	0.006122	0	13	9				
ST7	7982	broad.mit.edu	37	7	116859168	116859168	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:116859168A>G	uc003vin.2	+	14	1650	c.1436A>G	c.(1435-1437)AAG>AGG	p.K479R	ST7_uc011knl.1_Missense_Mutation_p.K456R|ST7_uc003vio.2_Missense_Mutation_p.K456R|ST7_uc003viq.2_Missense_Mutation_p.K433R|ST7_uc011knm.1_Missense_Mutation_p.K436R|ST7_uc003vir.2_Missense_Mutation_p.K399R|ST7_uc011knn.1_Missense_Mutation_p.K427R	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	479						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCCTTGGAAAAGGGGCACCTA	0.453		NaN											0	0	0	0.001168	0	3	192				
CFTR	1080	broad.mit.edu	37	7	117232685	117232685	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:117232685G>A	uc003vjd.2	+	14	2596	c.2464G>A	c.(2464-2466)GAA>AAA	p.E822K	CFTR_uc011knq.1_Missense_Mutation_p.E228K	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	822	Cytoplasmic (Potential).		E -> K (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGAAATAAGTGAAGAAATTAA	0.403		NaN							Cystic_Fibrosis				0	0	0	0.005443	0	21	63				
C7orf58	79974	broad.mit.edu	37	7	120782154	120782154	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:120782154C>A	uc003vjq.3	+	16	2461	c.2014C>A	c.(2014-2016)CTG>ATG	p.L672M	C7orf58_uc003vjs.3_Missense_Mutation_p.L672M|C7orf58_uc003vjt.3_Missense_Mutation_p.L452M	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	672						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					CCGCCCAAGTCTGCCCTTGTT	0.443		NaN											1	0	4.83814e-26	0.00361	5.2119e-26	58	135				
GPR37	2861	broad.mit.edu	37	7	124404068	124404068	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:124404068G>A	uc003vli.2	-	1	1614	c.963C>T	c.(961-963)CAC>CAT	p.H321H		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	321	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TGGTCAGCTCGTGGAAGATGA	0.522		NaN											0	0	0	0.004482	0	6	192				
MKRN1	23608	broad.mit.edu	37	7	140159649	140159649	+	Silent	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:140159649G>C	uc003vvt.2	-	3	627	c.402C>G	c.(400-402)CTC>CTG	p.L134L	MKRN1_uc003vvs.2_Silent_p.L70L|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.L134L|MKRN1_uc003vvu.3_Silent_p.L70L	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	134							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					CTATCGATGAGAGACTTGAGG	0.413		NaN											0	0	0	0.004878	0	32	87				
ZNF425	155054	broad.mit.edu	37	7	148802225	148802225	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:148802225G>C	uc003wfj.2	-	4	811	c.738C>G	c.(736-738)TTC>TTG	p.F246L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	246	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CACTGCACTGGAACCGCTTCT	0.582		NaN											0	0	0	0.00632	0	24	57				
ZNF467	168544	broad.mit.edu	37	7	149463272	149463272	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr7:149463272C>G	uc003wgd.2	-	5	460	c.319G>C	c.(319-321)GAG>CAG	p.E107Q	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGACCTCCTCTTCTGCCTCC	0.572		NaN											0	0	0	0.007835	0	34	44				
USP17L2	377630	broad.mit.edu	37	8	11995859	11995859	+	Silent	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:11995859G>A	uc003wvc.1	-	1	411	c.411C>T	c.(409-411)CAC>CAT	p.H137H	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	137					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						GACCAGGACTGTGGAGGGCCC	0.532		NaN											0	0	0	0.006122	0	12	29				
ARFGEF1	10565	broad.mit.edu	37	8	68150646	68150646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150646C>T	uc003xxo.1	-	22	3611	c.3221G>A	c.(3220-3222)CGA>CAA	p.R1074Q	ARFGEF1_uc003xxl.1_Missense_Mutation_p.R528Q|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R57Q	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1074					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTCTGCCTCGCACTGTTCC	0.403		NaN											0	0	0	0.00361	0	41	84				
ARFGEF1	10565	broad.mit.edu	37	8	68150723	68150723	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:68150723C>T	uc003xxo.1	-	22	3534	c.3144G>A	c.(3142-3144)CTG>CTA	p.L1048L	ARFGEF1_uc003xxl.1_Silent_p.L502L|ARFGEF1_uc003xxn.1_Silent_p.L31L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1048					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGCACTTCAGAATCTTAA	0.368		NaN											0	0	0	0.008871	0	20	32				
ZFHX4	79776	broad.mit.edu	37	8	77767807	77767807	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:77767807C>A	uc003yav.2	+	10	8902	c.8515C>A	c.(8515-8517)CAA>AAA	p.Q2839K	ZFHX4_uc003yau.1_Missense_Mutation_p.Q2884K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2839K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2839						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGACCACGACCAAAGCTTTTA	0.522		NaN								HNSCC(33;0.089)			1	0	1.90627e-21	0.012319	2.03606e-21	17	37				
PKIA	5569	broad.mit.edu	37	8	79513978	79513978	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:79513978A>T	uc003yba.2	+	4	677	c.153A>T	c.(151-153)GAA>GAT	p.E51D	PKIA_uc003ybb.2_Missense_Mutation_p.E51D|PKIA_uc010lzo.2_Missense_Mutation_p.E51D	NM_006823	NP_006814	P61925	IPKA_HUMAN	cAMP-dependent protein kinase inhibitor alpha	51							cAMP-dependent protein kinase inhibitor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTTTTGCAGAAGGTGAAGAAG	0.383		NaN											0	0	0	0.002299	0	21	25				
SPAG1	6674	broad.mit.edu	37	8	101251630	101251630	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:101251630G>C	uc003yjh.1	+	17	2364	c.2278G>C	c.(2278-2280)GAG>CAG	p.E760Q	SPAG1_uc003yji.1_Missense_Mutation_p.E760Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	760					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGAGATTCAAGAGGTATTTGT	0.353		NaN											0	0	0	0.004289	0	32	53				
DPYS	1807	broad.mit.edu	37	8	105436562	105436562	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:105436562G>A	uc003yly.3	-	7	1277	c.1148C>T	c.(1147-1149)GCC>GTC	p.A383V		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	383					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAATTTTGGCTGCATTTGT	0.348		NaN											0	0	0	0.006214	0	9	80				
TRPS1	7227	broad.mit.edu	37	8	116616680	116616680	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:116616680C>T	uc003ynz.2	-	3	1936	c.1477G>A	c.(1477-1479)GAG>AAG	p.E493K	TRPS1_uc011lhy.1_Missense_Mutation_p.E497K|TRPS1_uc003yny.2_Missense_Mutation_p.E506K|TRPS1_uc010mcy.2_Missense_Mutation_p.E493K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	493					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTCATTGTCTCTCCTTCTGAA	0.463		NaN							Langer-Giedion_syndrome				0	0	0	0.006214	0	10	119				
UNC13B	10497	broad.mit.edu	37	9	35400365	35400365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:35400365C>T	uc003zwq.2	+	36	4454	c.4162C>T	c.(4162-4164)CGC>TGC	p.R1388C	UNC13B_uc003zwr.2_Missense_Mutation_p.R1388C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1388	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGTCTCTACGCTATGCCCT	0.522		NaN											0	0	0	0.00361	0	119	174				
TJP2	9414	broad.mit.edu	37	9	71844153	71844153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:71844153G>T	uc004ahe.2	+	10	1707	c.1507G>T	c.(1507-1509)GAA>TAA	p.E503*	TJP2_uc011lrs.1_Nonsense_Mutation_p.E480*|TJP2_uc011lrt.1_Nonsense_Mutation_p.E480*|TJP2_uc004ahd.2_Nonsense_Mutation_p.E503*|TJP2_uc004ahf.2_Nonsense_Mutation_p.E503*|TJP2_uc011lru.1_Nonsense_Mutation_p.E507*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E525*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	503					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TCCTGAAGATGAAGCAATATA	0.423		NaN											1	0	6.23295e-54	0.00361	6.83175e-54	102	50				
GALNT12	79695	broad.mit.edu	37	9	101570311	101570311	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:101570311A>G	uc004ayz.2	+	1	331	c.331A>G	c.(331-333)ATC>GTC	p.I111V		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	111	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CAGCGACCGCATCTCACTGCA	0.692		NaN											0	0	0	0.001168	0	5	5				
INVS	27130	broad.mit.edu	37	9	103002414	103002414	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:103002414G>T	uc004bap.1	+	6	900	c.688G>T	c.(688-690)GCT>TCT	p.A230S	INVS_uc010mta.1_Missense_Mutation_p.A134S|INVS_uc011lve.1_Missense_Mutation_p.A134S|INVS_uc004bao.1_Missense_Mutation_p.A230S|INVS_uc004baq.1_Missense_Mutation_p.A134S|INVS_uc004bar.1_Missense_Mutation_p.A134S|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	230	ANK 7.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				CTTTGCAGTTGCTGATGGGAA	0.463		NaN											1	0	4.11147e-13	0.003755	4.29992e-13	32	59				
C9orf78	51759	broad.mit.edu	37	9	132590500	132590500	+	Silent	SNP	G	G	A	rs147768922	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:132590500G>A	uc004byp.2	-	9	882	c.810C>T	c.(808-810)AAC>AAT	p.N270N	C9orf78_uc004byo.2_Missense_Mutation_p.T185M	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	270											0		Ovarian(14;0.00556)				TTGCCTTCTCGTTAGCAGGAC	0.413		NaN											0	0	0	0.00361	0	57	69				
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr9:137328351C>A	uc004cfb.2	+	10	1442	c.1280C>A	c.(1279-1281)TCC>TAC	p.S427Y	RXRA_uc004cfc.1_Missense_Mutation_p.S330Y	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607		NaN											1	0	3.47803e-31	0.00361	3.76287e-31	72	36		Valid		
WWC3	55841	broad.mit.edu	37	X	10093067	10093067	+	Silent	SNP	C	C	T	rs11544574	byFrequency	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:10093067C>T	uc004csx.3	+	14	2028	c.1830C>T	c.(1828-1830)CGC>CGT	p.R610R	WWC3_uc010nds.2_Silent_p.R274R|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	610										ovary(4)	4						TTCCTAGGCGCGACAGTGGCA	0.607		NaN											0	0	0	0.00245	0	14	27				
BMX	660	broad.mit.edu	37	X	15526533	15526533	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:15526533G>C	uc004cww.2	+	2	245	c.57G>C	c.(55-57)AAG>AAC	p.K19N	BMX_uc004cwx.3_Missense_Mutation_p.K19N|BMX_uc004cwy.3_Missense_Mutation_p.K19N	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	19	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AGCAAAAGAAGAAAATGTCAC	0.294		NaN											0	0	0	0.00361	0	47	8				
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:44969327G>A	uc004dge.3	+	28	4384	c.4009G>A	c.(4009-4011)GAG>AAG	p.E1337K	KDM6A_uc011mkz.1_Missense_Mutation_p.E1389K|KDM6A_uc011mla.1_Missense_Mutation_p.E1292K|KDM6A_uc011mlb.1_Missense_Mutation_p.E1344K|KDM6A_uc011mlc.1_Missense_Mutation_p.E1041K|KDM6A_uc011mld.1_Missense_Mutation_p.E976K	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1337					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAACAGGTGGAGGTTTTTGA	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.004289	0	32	11		Valid		
AFF2	2334	broad.mit.edu	37	X	148072790	148072790	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:148072790C>A	uc004fcp.2	+	21	4343	c.3864C>A	c.(3862-3864)AGC>AGA	p.S1288R	AFF2_uc004fcq.2_Missense_Mutation_p.S1278R|AFF2_uc004fcr.2_Missense_Mutation_p.S1249R|AFF2_uc011mxb.1_Missense_Mutation_p.S1253R|AFF2_uc004fcs.2_Missense_Mutation_p.S1253R|AFF2_uc011mxc.1_Missense_Mutation_p.S929R	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1288					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCACAGCAGCATGACCA	0.493		NaN											1	0	1.41595e-48	0.00361	1.54523e-48	55	97				
ATP2B3	492	broad.mit.edu	37	X	152815032	152815032	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrX:152815032C>T	uc004fht.1	+	9	1542	c.1416C>T	c.(1414-1416)TCC>TCT	p.S472S	ATP2B3_uc004fhs.1_Silent_p.S472S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	472	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATCTGCTCCGACAAGACGG	0.607		NaN											0	0	0	0.00361	0	95	17				
UTY	7404	broad.mit.edu	37	Y	15435627	15435627	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15435627G>C	uc004fsx.1	-	19	3798	c.2793C>G	c.(2791-2793)TTC>TTG	p.F931L	UTY_uc004fsw.1_Missense_Mutation_p.F594L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Missense_Mutation_p.F931L|UTY_uc004fsz.2_Missense_Mutation_p.F931L	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	931					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTTTGGTAGAGAAAAGTCCAA	0.318		NaN											0	0	0	0.008871	0	18	3				
UTY	7404	broad.mit.edu	37	Y	15466934	15466934	+	Silent	SNP	C	C	T			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chrY:15466934C>T	uc004fsx.1	-	15	2724	c.1719G>A	c.(1717-1719)CTG>CTA	p.L573L	UTY_uc004fsw.1_Silent_p.L236L|UTY_uc010nwx.1_5'UTR|UTY_uc004fsy.2_Silent_p.L573L|UTY_uc004fsz.2_Silent_p.L573L	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	573					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGCTGCTGTTCAGGTCTGTAT	0.408		NaN											0	0	0	0.00499	0	13	8				
VWA1	64856	broad.mit.edu	37	1	1374720	1374720	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:1374720G>T	uc001afs.2	+	3	1111	c.891G>T	c.(889-891)CTG>CTT	p.L297L	VWA1_uc001afr.2_Silent_p.L85L	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	297	Fibronectin type-III 1.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCAGATCCTGCGGGTGCGCA	0.766		NaN											1	0	0.004672	0.004672	0.00475046	3	0				
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:16353844C>A	uc001axu.2	+	8	775	c.695C>A	c.(694-696)TCT>TAT	p.S232Y	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.S232Y|CLCNKA_uc010obw.1_Missense_Mutation_p.S189Y|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647		NaN											1	0	3.00167e-28	0.00361	3.47672e-28	57	4				
ECE1	1889	broad.mit.edu	37	1	21582529	21582529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21582529C>G	uc001bek.2	-	8	1006	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	ECE1_uc001bem.2_Missense_Mutation_p.E295Q|ECE1_uc001bej.2_Missense_Mutation_p.E299Q|ECE1_uc001bei.2_Missense_Mutation_p.E308Q|ECE1_uc010odl.1_Missense_Mutation_p.E311Q|ECE1_uc009vqa.1_Missense_Mutation_p.E311Q	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	311	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTGCCGTCTCAAAGTCCAAG	0.602		NaN											0	0	0	0.010771	0	36	8				
NBPF3	84224	broad.mit.edu	37	1	21795335	21795335	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795335G>T	uc001ber.2	+	3	638	c.288G>T	c.(286-288)CAG>CAT	p.Q96H	NBPF3_uc001bes.2_Missense_Mutation_p.Q40H|NBPF3_uc009vqb.2_Missense_Mutation_p.Q96H|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	96						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTCAAACAGAAATGTCTTG	0.458		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.5997e-14	0.002299	3.9692e-14	16	0				
NBPF3	84224	broad.mit.edu	37	1	21795351	21795351	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795351C>G	uc001ber.2	+	3	654	c.304C>G	c.(304-306)CAA>GAA	p.Q102E	NBPF3_uc001bes.2_Missense_Mutation_p.Q46E|NBPF3_uc009vqb.2_Missense_Mutation_p.Q102E|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	102						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTTGTAACTCAAGTGGCCTA	0.453		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	10	0				
FGR	2268	broad.mit.edu	37	1	27949568	27949568	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:27949568T>C	uc001boj.2	-	2	460	c.314A>G	c.(313-315)CAC>CGC	p.H105R	FGR_uc001bok.2_Missense_Mutation_p.H105R|FGR_uc001bol.2_Missense_Mutation_p.H105R|FGR_uc001bom.2_Missense_Mutation_p.H105R	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	105	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCAGGATGTGGAACTTCTC	0.383		NaN											0	0	0	0.00361	0	38	0				
CSMD2	114784	broad.mit.edu	37	1	34083156	34083156	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:34083156C>A	uc001bxn.1	-	38	5798	c.5769G>T	c.(5767-5769)GAG>GAT	p.E1923D	CSMD2_uc001bxm.1_Missense_Mutation_p.E1963D|CSMD2_uc001bxo.1_Missense_Mutation_p.E836D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAGTAGCGCTCGCCAGTCT	0.567		NaN											1	0	4.3181e-19	0.002836	4.9076e-19	30	1				
THRAP3	9967	broad.mit.edu	37	1	36769407	36769407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:36769407G>A	uc001cae.3	+	12	2881	c.2657G>A	c.(2656-2658)CGT>CAT	p.R886H	THRAP3_uc001caf.3_Missense_Mutation_p.R886H|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATGATGACCGTGAAGGCGAA	0.587		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.00361	0	68	8				
MACF1	23499	broad.mit.edu	37	1	39800781	39800781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:39800781G>T	uc010oiu.1	+	1	3972	c.3841G>T	c.(3841-3843)GAA>TAA	p.E1281*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2846					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGAGCAGGGAAATTTCCTT	0.363		NaN											1	0	1.33834e-09	0.007413	1.42385e-09	16	3				
NT5C1A	84618	broad.mit.edu	37	1	40131301	40131301	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:40131301G>A	uc001cdq.1	-	3	325	c.325C>T	c.(325-327)CGG>TGG	p.R109W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	109					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCCGCAGCCGCCTGTTCACG	0.562		NaN											0	0	0	0.003271	0	27	1				
RNF11	26994	broad.mit.edu	37	1	51702486	51702486	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:51702486C>G	uc001csi.3	+	1	542	c.58C>G	c.(58-60)CAG>GAG	p.Q20E		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	20					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						TCACGAGTCTCAGTCCGACCG	0.637		NaN											0	0	0	0.004878	0	33	2				
MRPL37	51253	broad.mit.edu	37	1	54670971	54670971	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:54670971G>A	uc001cxa.3	+	3	611	c.534G>A	c.(532-534)CCG>CCA	p.P178P	MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Silent_p.P178P|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37 precursor	178					translation	mitochondrial ribosome	structural constituent of ribosome				0						CTTCAAGCCCGGTCATCGTGG	0.448		NaN											0	0	0	0.00499	0	16	3				
C1orf173	127254	broad.mit.edu	37	1	75039034	75039034	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:75039034T>A	uc001dgg.2	-	14	2579	c.2360A>T	c.(2359-2361)GAC>GTC	p.D787V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	787	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTGTACTATGTCAGCATCTCT	0.517		NaN											0	0	0	0.00361	0	60	2				
LRRC8D	55144	broad.mit.edu	37	1	90398656	90398656	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:90398656T>A	uc001dnm.2	+	3	454	c.29T>A	c.(28-30)CTT>CAT	p.L10H	LRRC8D_uc001dnn.2_Missense_Mutation_p.L10H	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	10						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTGCATCACTTAATGACATT	0.378		NaN											0	0	0	0.004482	0	5	46				
ZNF644	84146	broad.mit.edu	37	1	91404364	91404364	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91404364C>G	uc001dnw.2	-	3	2689	c.2547G>C	c.(2545-2547)AAG>AAC	p.K849N	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K849N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACTATCTTTCTTTTCAGCAG	0.358		NaN											0	0	0	0.001368	0	10	3				
HFM1	164045	broad.mit.edu	37	1	91784664	91784664	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91784664A>G	uc001doa.3	-	25	2883	c.2783T>C	c.(2782-2784)CTG>CCG	p.L928P	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.L607P|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Missense_Mutation_p.L612P	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	928	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGATACATGCAGAGAGTTTTC	0.338		NaN											0	0	0	0.007291	0	20	5				
NTNG1	22854	broad.mit.edu	37	1	107979293	107979293	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:107979293A>T	uc001dvh.3	+	7	1980	c.1262A>T	c.(1261-1263)TAT>TTT	p.Y421F	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Missense_Mutation_p.Y387F|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	421	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAGTGTTATTGTAACCCT	0.453		NaN											0	0	0	0.008871	0	15	18				
PTPN22	26191	broad.mit.edu	37	1	114380599	114380599	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:114380599G>C	uc001eds.2	-	13	1553	c.1423C>G	c.(1423-1425)CAA>GAA	p.Q475E	PTPN22_uc009wgq.2_Missense_Mutation_p.Q420E|PTPN22_uc010owo.1_Missense_Mutation_p.Q231E|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q475E|PTPN22_uc009wgs.2_Missense_Mutation_p.Q348E|PTPN22_uc001edu.2_Missense_Mutation_p.Q475E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	475					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATGTGGTTGAGATTCCAAA	0.393		NaN											0	0	0	0.00874	0	34	2				
PDE4DIP	9659	broad.mit.edu	37	1	144864173	144864173	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144864173G>A	uc001elw.3	-	36	6213	c.5922C>T	c.(5920-5922)TTC>TTT	p.F1974F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1868F|PDE4DIP_uc001elv.3_Silent_p.F981F|PDE4DIP_uc001ema.2_Silent_p.F161F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1974	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCCTCCCTGAAATGCAAGA	0.458		NaN	T	PDGFRB	MPD								0	0	0	0.006214	0	8	321				
PDE4DIP	9659	broad.mit.edu	37	1	144877097	144877097	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144877097G>A	uc001elw.3	-	28	4881	c.4590C>T	c.(4588-4590)TTC>TTT	p.F1530F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1486F|PDE4DIP_uc001elv.3_Silent_p.F537F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1530					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGCTCCCGGAAGCTCTGTC	0.493		NaN	T	PDGFRB	MPD								0	0	0	0.010729	0	10	13				
NBPF10	100132406	broad.mit.edu	37	1	146399628	146399628	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:146399628G>T	uc001emp.3	+	14	2577	c.1379_splice	c.e14+1	p.R460_splice	uc010ozk.1_Splice_Site	NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCCCCCAGGTAACACTGAA	0.418		NaN											1	0	2.79145e-41	0.00361	3.29629e-41	40	485				
TARS2	80222	broad.mit.edu	37	1	150478109	150478109	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:150478109G>C	uc001euq.2	+	17	1943	c.1936G>C	c.(1936-1938)GAT>CAT	p.D646H	TARS2_uc001eur.2_Missense_Mutation_p.D564H|TARS2_uc009wlt.2_Missense_Mutation_p.D272H|TARS2_uc009wls.2_Missense_Mutation_p.D516H|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	646					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTGACCTGGATGCAGACTC	0.532		NaN											0	0	0	0.00361	0	40	185				
PRUNE	58497	broad.mit.edu	37	1	151006538	151006538	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:151006538G>A	uc001ewh.1	+	8	1326	c.1190G>A	c.(1189-1191)GGA>GAA	p.G397E	PRUNE_uc001ewi.1_Missense_Mutation_p.G215D|PRUNE_uc010pco.1_Missense_Mutation_p.G165D|PRUNE_uc001ewj.1_Missense_Mutation_p.G112D|PRUNE_uc001ewk.1_Missense_Mutation_p.G162D|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	397	Essential for homodimerization.					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGATTTCTGGCCTGAGTCAA	0.562		NaN											0	0	0	0.002299	0	18	102				
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:152328035A>C	uc001ezw.3	-	3	2300	c.2227T>G	c.(2227-2229)TCT>GCT	p.S743A	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507		NaN											0	0	0	0.008291	0	11	621				
CRTC2	200186	broad.mit.edu	37	1	153921785	153921785	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153921785C>G	uc010ped.1	-	12	1550	c.1480G>C	c.(1480-1482)GTT>CTT	p.V494L	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.V30L	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	494					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTAGGCAGAACCAGACTTGGG	0.582		NaN											0	0	0	0.010504	0	16	119				
NUP210L	91181	broad.mit.edu	37	1	153998045	153998045	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153998045G>A	uc001fdw.2	-	30	4167	c.4095C>T	c.(4093-4095)GTC>GTT	p.V1365V	NUP210L_uc009woq.2_Silent_p.V274V|NUP210L_uc010peh.1_Silent_p.V1365V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1365						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTTTGGTTGACTCCAAAAG	0.413		NaN											0	0	0	0.00361	0	113	50				
PYGO2	90780	broad.mit.edu	37	1	154932130	154932130	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:154932130G>A	uc001fft.2	-	3	552	c.346C>T	c.(346-348)CCA>TCA	p.P116S		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	116	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTAGCCTGGGGGTACCTGG	0.682		NaN											0	0	0	0.004007	0	12	2				
ADAM15	8751	broad.mit.edu	37	1	155030787	155030787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:155030787G>A	uc001fgr.1	+	15	1888	c.1787G>A	c.(1786-1788)CGG>CAG	p.R596Q	ADAM15_uc001fgq.1_Missense_Mutation_p.R281Q|ADAM15_uc010pet.1_Missense_Mutation_p.R580Q|ADAM15_uc010peu.1_Missense_Mutation_p.R613Q|ADAM15_uc001fgt.1_Missense_Mutation_p.R596Q|ADAM15_uc010pev.1_Missense_Mutation_p.R606Q|ADAM15_uc001fgs.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgu.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgw.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgv.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgx.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	596	Extracellular (Potential).|Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTCCATCCGGGATCTACTC	0.597		NaN											0	0	0	0.007413	0	13	65				
NES	10763	broad.mit.edu	37	1	156640230	156640230	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:156640230C>T	uc001fpq.2	-	4	3883	c.3750G>A	c.(3748-3750)CAG>CAA	p.Q1250Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1250	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCCTCCCCTGCACCCCCC	0.662		NaN											0	0	0	0.00361	0	49	216				
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158450082G>C	uc010pik.1	+	1	415	c.415G>C	c.(415-417)GGT>CGT	p.G139R	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	139	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488		NaN											0	0	0	0.00361	0	341	134				
OR6N2	81442	broad.mit.edu	37	1	158747267	158747267	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158747267T>C	uc010pir.1	-	1	159	c.159A>G	c.(157-159)GCA>GCG	p.A53A		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TGTGCAGAGCTGCATCCAGTC	0.463		NaN											0	0	0	0.00361	0	174	58				
CADM3	57863	broad.mit.edu	37	1	159166685	159166685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159166685C>T	uc001ftl.2	+	7	929	c.787C>T	c.(787-789)CAG>TAG	p.Q263*	CADM3_uc009wsy.1_Nonsense_Mutation_p.Q217*|CADM3_uc001ftk.2_Nonsense_Mutation_p.Q297*|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	263	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CGACAGCCCCCAGCAGTACCT	0.527		NaN											0	0	0	0.00361	0	92	30				
CRP	1401	broad.mit.edu	37	1	159683378	159683378	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159683378G>A	uc001ftw.2	-	2	716	c.612C>T	c.(610-612)AAC>AAT	p.N204N	CRP_uc001ftx.1_Silent_p.N71N|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	204	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTGCCCGCCAGTTCAGGACAT	0.532		NaN											0	0	0	0.012319	0	20	120				
NCSTN	23385	broad.mit.edu	37	1	160326392	160326392	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160326392G>T	uc001fvx.2	+	15	1766	c.1642G>T	c.(1642-1644)GAC>TAC	p.D548Y	NCSTN_uc001fvy.2_Missense_Mutation_p.D528Y|NCSTN_uc010pjf.1_Missense_Mutation_p.D410Y|NCSTN_uc001fvz.2_Missense_Mutation_p.D328Y|NCSTN_uc010pjg.1_Missense_Mutation_p.D290Y	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	548	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCAGGTGACGGGCCTCT	0.512		NaN											1	0	2.93687e-30	0.00361	3.4315e-30	48	251				
SLAMF6	114836	broad.mit.edu	37	1	160466111	160466111	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160466111G>A	uc001fwe.1	-	2	182	c.122C>T	c.(121-123)CCC>CTC	p.P41L	SLAMF6_uc001fwd.1_Missense_Mutation_p.P41L|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	41	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAACTCCAGGGGAAGAGTTAC	0.438		NaN											0	0	0	0.00361	0	47	412				
NDUFS2	4720	broad.mit.edu	37	1	161176202	161176202	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:161176202G>A	uc001fyv.2	+	4	656	c.208G>A	c.(208-210)GAC>AAC	p.D70N	NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.D70N|NDUFS2_uc010pkj.1_Missense_Mutation_p.D19N|NDUFS2_uc001fyx.2_Missense_Mutation_p.D70N|NDUFS2_uc001fyy.1_Missense_Mutation_p.D19N	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	70					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTCAGATGTGGACCCTCCAAA	0.473		NaN											0	0	0	0.004007	0	12	98				
RXRG	6258	broad.mit.edu	37	1	165414106	165414106	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165414106T>C	uc001gda.2	-	1	325	c.25A>G	c.(25-27)ATG>GTG	p.M9V	RXRG_uc001gdb.1_Missense_Mutation_p.M9V	NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	9	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGAAACTTCATGAAGTGAGAA	0.473		NaN											0	0	0	0.00361	0	51	108				
LRRC52	440699	broad.mit.edu	37	1	165532930	165532930	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165532930G>C	uc001gde.2	+	2	867	c.811G>C	c.(811-813)GTG>CTG	p.V271L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTGTGTGCTGTGCTCTACCA	0.582		NaN											0	0	0	0.001368	0	12	95				
ILDR2	387597	broad.mit.edu	37	1	166891923	166891923	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:166891923T>C	uc001gdx.1	-	8	1174	c.1118A>G	c.(1117-1119)TAT>TGT	p.Y373C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	373	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						ACCTGACCAATAGTCAGGATT	0.552		NaN											0	0	0	0.00361	0	313	252				
CD247	919	broad.mit.edu	37	1	167487650	167487650	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167487650A>T	uc001gei.3	-	1	198	c.53T>A	c.(52-54)ATT>AAT	p.I18N	CD247_uc001gej.3_Missense_Mutation_p.I18N|CD247_uc001gek.2_Missense_Mutation_p.I18N	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	18					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			CCTACCTGTAATCGGCAACTG	0.587		NaN											0	0	0	0.002299	0	15	145				
DCAF6	55827	broad.mit.edu	37	1	167962475	167962475	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167962475G>A	uc001gew.2	+	7	942	c.700G>A	c.(700-702)GGT>AGT	p.G234S	DCAF6_uc001gev.2_Missense_Mutation_p.G234S|DCAF6_uc001gex.2_Missense_Mutation_p.G234S|DCAF6_uc010plk.1_Missense_Mutation_p.G203S|DCAF6_uc001gey.2_Missense_Mutation_p.G87S	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	234					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAATTATGCAGGTCGAGGGAC	0.303		NaN											0	0	0	0.00361	0	44	57				
FMO2	2327	broad.mit.edu	37	1	171162616	171162616	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:171162616G>A	uc001ghk.1	+	3	392	c.275G>A	c.(274-276)AGG>AAG	p.R92K	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	92					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAATATTTCAGGATTTTTGCT	0.343		NaN											0	0	0	0.00308	0	7	58				
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:175086217G>A	uc001gkl.1	+	10	2375	c.2262G>A	c.(2260-2262)CCG>CCA	p.P754P		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	754	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGTTCCGGTGGGGAAGG	0.637		NaN											0	0	0	0.001855	0	5	146				
KIF14	9928	broad.mit.edu	37	1	200558410	200558410	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:200558410G>T	uc010ppk.1	-	18	3488	c.3049C>A	c.(3049-3051)CAT>AAT	p.H1017N	KIF14_uc010ppj.1_Missense_Mutation_p.H526N	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1017	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TGTTCAAGATGCTGCTTTGCC	0.323		NaN											1	0	6.49762e-13	0.006122	7.09412e-13	16	33				
GOLT1A	127845	broad.mit.edu	37	1	204170901	204170901	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:204170901C>T	uc001has.1	-	3	342	c.156G>A	c.(154-156)CTG>CTA	p.L52L	GOLT1A_uc001hat.1_Silent_p.L52L	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	golgi transport 1 homolog A	52	Helical; Name=2; (Potential).				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane					0	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGTCTTCCTCAGGCCAATGA	0.592		NaN											0	0	0	0.00361	0	66	24				
MFSD4	148808	broad.mit.edu	37	1	205561360	205561360	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:205561360C>T	uc001hcv.3	+	7	1328	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L	MFSD4_uc010prk.1_Silent_p.L327L|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.L359L|MFSD4_uc009xbn.2_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	414	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCTGTTTCTCAGCAGCACCT	0.622		NaN									OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	35	13				
SRGAP2	23380	broad.mit.edu	37	1	206566186	206566186	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:206566186C>T	uc001hdy.2	+	3	699	c.366C>T	c.(364-366)TCC>TCT	p.S122S	SRGAP2_uc009xbt.2_Silent_p.S46S|SRGAP2_uc010prt.1_Silent_p.S46S|SRGAP2_uc001hdx.2_Silent_p.S122S|SRGAP2_uc010pru.1_Silent_p.S46S|SRGAP2_uc010prv.1_Silent_p.S46S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	209					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					CCCCTGACTCCACGGCCAACG	0.532		NaN											0	0	0	0.000602	0	3	39				
TRAF3IP3	80342	broad.mit.edu	37	1	209935923	209935923	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:209935923G>T	uc001hho.2	+	4	699	c.409G>T	c.(409-411)GAT>TAT	p.D137Y	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.D137Y|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.D137Y	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	137	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CATCTGCAGGGATCTGTCTGA	0.587		NaN											1	0	7.38237e-10	0.00632	7.86665e-10	20	5				
ESRRG	2104	broad.mit.edu	37	1	216737663	216737663	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:216737663C>T	uc001hkw.1	-	5	926	c.760G>A	c.(760-762)GAC>AAC	p.D254N	ESRRG_uc001hky.1_Missense_Mutation_p.D231N|ESRRG_uc009xdp.1_Missense_Mutation_p.D231N|ESRRG_uc001hkz.1_Missense_Mutation_p.D192N|ESRRG_uc010puc.1_Missense_Mutation_p.D231N|ESRRG_uc001hla.1_Missense_Mutation_p.D231N|ESRRG_uc001hlb.1_Missense_Mutation_p.D231N|ESRRG_uc010pud.1_Missense_Mutation_p.D62N|ESRRG_uc001hlc.1_Missense_Mutation_p.D231N|ESRRG_uc001hld.1_Missense_Mutation_p.D231N|ESRRG_uc001hkx.1_Missense_Mutation_p.D266N|ESRRG_uc009xdo.1_Missense_Mutation_p.D231N|ESRRG_uc001hle.1_Missense_Mutation_p.D231N	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	254					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAGTAGGGTCAGGCATGGCA	0.493		NaN											0	0	0	0.011902	0	37	4				
LYST	1130	broad.mit.edu	37	1	235964228	235964228	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:235964228C>T	uc001hxj.2	-	9	4057	c.3882G>A	c.(3880-3882)GAG>GAA	p.E1294E	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.E1294E	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1294					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAAAAAACTCTCAAATACAT	0.313		NaN							Chediak-Higashi_syndrome				0	0	0	0.001984	0	7	23				
MTR	4548	broad.mit.edu	37	1	237016251	237016251	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:237016251G>A	uc001hyi.3	+	18	2239	c.1816G>A	c.(1816-1818)GGC>AGC	p.G606S	MTR_uc010pxw.1_Missense_Mutation_p.G199S|MTR_uc010pxx.1_Missense_Mutation_p.G606S|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	606	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCCTTAGTCTGGCATGGACAT	0.299		NaN											0	0	0	0.004656	0	18	67				
CHRM3	1131	broad.mit.edu	37	1	240072203	240072203	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072203C>G	uc001hyp.2	+	5	2231	c.1452C>G	c.(1450-1452)GTC>GTG	p.V484V		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	484	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGTCCCTGGTCAAGGAGAAGA	0.517		NaN											0	0	0	0.002299	0	19	77				
CHRM3	1131	broad.mit.edu	37	1	240072271	240072271	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072271A>T	uc001hyp.2	+	5	2299	c.1520A>T	c.(1519-1521)TAC>TTC	p.Y507F		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	507	Helical; Name=6; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGACCCCATACAACATCATG	0.502		NaN											0	0	0	0.011902	0	33	106				
OR6F1	343169	broad.mit.edu	37	1	247875858	247875858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875858G>T	uc001idj.1	-	1	200	c.200C>A	c.(199-201)TCC>TAC	p.S67Y		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCCAGGAAGGAGAGGTTGCT	0.478		NaN											1	0	1.76689e-08	0.006214	1.85901e-08	8	65				
OR2T10	127069	broad.mit.edu	37	1	248756394	248756394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:248756394G>C	uc010pzn.1	-	1	676	c.676C>G	c.(676-678)CAT>GAT	p.H226D		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCATCTTATGGATGGTGAGG	0.443		NaN											0	0	0	0.00632	0	22	78				
FBXO18	84893	broad.mit.edu	37	10	5951204	5951204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:5951204G>A	uc001iis.2	+	5	1062	c.967G>A	c.(967-969)GAG>AAG	p.E323K	FBXO18_uc001iir.2_Missense_Mutation_p.E249K|FBXO18_uc009xig.2_Missense_Mutation_p.E249K|FBXO18_uc001iit.2_Missense_Mutation_p.E374K	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	323					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CCTCCTCCCCGAGGCTGAGGC	0.617		NaN											0	0	0	0.00361	0	50	22				
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:13481367G>A	uc001imm.2	-	9	1509	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L	BEND7_uc001iml.2_RNA	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	455							protein binding			ovary(1)|breast(1)	2						TCAGGAGCACGAGATGCTGCT	0.493		NaN											0	0	0	0.00245	0	13	41				
FAM188A	80013	broad.mit.edu	37	10	15875631	15875631	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:15875631A>G	uc001iod.1	-	8	949	c.728T>C	c.(727-729)ATG>ACG	p.M243T	FAM188A_uc001ioe.1_Missense_Mutation_p.M70T|FAM188A_uc001iof.1_Missense_Mutation_p.M243T	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	243					apoptosis	nucleus	calcium ion binding			ovary(1)	1						ATACTTACTCATTCCTGAGCA	0.249		NaN											0	0	0	0.00361	0	49	25				
ABI1	10006	broad.mit.edu	37	10	27052865	27052865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:27052865G>T	uc001isx.2	-	8	1012	c.845C>A	c.(844-846)TCT>TAT	p.S282Y	ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Intron|ABI1_uc001ita.2_Intron|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Missense_Mutation_p.S299Y|ABI1_uc001itc.2_Intron|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Intron|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Intron	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	282	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						TGGAGCTCCAGAAGGAGGAGG	0.413		NaN											1	0	2.98393e-07	0.00278	3.11978e-07	21	41				
ARHGAP12	94134	broad.mit.edu	37	10	32197606	32197606	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:32197606T>C	uc001ivz.1	-	3	448	c.178A>G	c.(178-180)AAA>GAA	p.K60E	ARHGAP12_uc001ivy.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xls.2_Missense_Mutation_p.K58E|ARHGAP12_uc001iwb.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwc.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlq.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwd.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlr.1_Missense_Mutation_p.K58E	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	60	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TAAAACGCTTTGGAGTTTTCA	0.468		NaN											0	0	0	0.008291	0	10	6				
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:33211203C>T	uc001iws.3	-	9	1246	c.1110G>A	c.(1108-1110)TTG>TTA	p.L370L	ITGB1_uc001iwp.3_Silent_p.L370L|ITGB1_uc001iwq.3_Silent_p.L370L|ITGB1_uc001iwr.3_Silent_p.L370L|ITGB1_uc001iwt.3_Silent_p.L370L|ITGB1_uc001iwu.1_Silent_p.L370L	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	370	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CATCAATGATCAACTGAATTA	0.323		NaN											0	0	0	0.00623	0	28	84				
SLC18A3	6572	broad.mit.edu	37	10	50820268	50820268	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:50820268C>T	uc001jhw.2	+	1	1922	c.1482C>T	c.(1480-1482)TAC>TAT	p.Y494Y	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	494	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						AAGGTCTGTACGATGCGGTGC	0.647		NaN											0	0	0	0.010504	0	17	25				
PCDH15	65217	broad.mit.edu	37	10	55782693	55782693	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:55782693C>T	uc001jju.1	-	19	2880	c.2485G>A	c.(2485-2487)GAA>AAA	p.E829K	PCDH15_uc010qhq.1_Missense_Mutation_p.E834K|PCDH15_uc010qhr.1_Missense_Mutation_p.E829K|PCDH15_uc010qhs.1_Missense_Mutation_p.E841K|PCDH15_uc010qht.1_Missense_Mutation_p.E836K|PCDH15_uc010qhu.1_Missense_Mutation_p.E829K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E829K|PCDH15_uc010qhw.1_Missense_Mutation_p.E792K|PCDH15_uc010qhx.1_Missense_Mutation_p.E758K|PCDH15_uc010qhy.1_Missense_Mutation_p.E834K|PCDH15_uc010qhz.1_Missense_Mutation_p.E829K|PCDH15_uc010qia.1_Missense_Mutation_p.E807K|PCDH15_uc010qib.1_Missense_Mutation_p.E807K|PCDH15_uc001jjw.2_Missense_Mutation_p.E829K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	829	Extracellular (Potential).|Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AAATTCTCTTCAACAAGGACA	0.393		NaN								HNSCC(58;0.16)			0	0	0	0.00361	0	99	5				
DNA2	1763	broad.mit.edu	37	10	70206090	70206090	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:70206090C>T	uc001jof.2	-	7	1278	c.1278G>A	c.(1276-1278)CAG>CAA	p.Q426Q	DNA2_uc001jog.1_Silent_p.Q340Q|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	340					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						CAGGGTACATCTGACCAGTCT	0.453		NaN											0	0	0	0.001168	0	5	4				
TSPAN14	81619	broad.mit.edu	37	10	82269119	82269119	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:82269119G>A	uc001kcj.3	+	5	449	c.342G>A	c.(340-342)CTG>CTA	p.L114L	TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L97L	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	114						integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			TGGCCTTCCTGTTCCAGGACT	0.592		NaN											0	0	0	0.00278	0	20	16				
PDCD4	27250	broad.mit.edu	37	10	112650398	112650398	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:112650398G>C	uc001kzh.2	+	8	1203	c.960G>C	c.(958-960)GGG>GGC	p.G320G	PDCD4_uc001kzg.2_Silent_p.G309G|PDCD4_uc010qre.1_Silent_p.G306G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	320					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGAGGTGGGCAGCAATCTG	0.398		NaN											0	0	0	0.00278	0	15	25				
PNLIP	5406	broad.mit.edu	37	10	118327270	118327270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118327270C>T	uc001lcm.2	+	13	1401	c.1358C>T	c.(1357-1359)ACC>ATC	p.T453I		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	453	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTCCAGAAACCGTCAGGGAG	0.433		NaN											0	0	0	0.004878	0	27	3				
PNLIPRP1	5407	broad.mit.edu	37	10	118352009	118352009	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118352009T>A	uc001lco.1	+	4	304	c.286T>A	c.(286-288)TTC>ATC	p.F96I	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.F96I|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.F96I|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	96					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		CATCCATGGCTTCATAGACAA	0.488		NaN											0	0	0	0.00361	0	49	3				
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:120802195C>G	uc001ldu.2	-	19	2983	c.2837G>C	c.(2836-2838)AGA>ACA	p.R946T	EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	946	3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567		NaN											0	0	0	0.00361	0	84	2				
DMBT1	1755	broad.mit.edu	37	10	124357509	124357509	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:124357509C>G	uc001lgk.1	+	25	3043	c.2937C>G	c.(2935-2937)ACC>ACG	p.T979T	DMBT1_uc001lgl.1_Silent_p.T969T|DMBT1_uc001lgm.1_Silent_p.T480T|DMBT1_uc009xzz.1_Silent_p.T979T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	979					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACCATCACCTTGCCTGCAT	0.453		NaN											0	0	0	0.00361	0	122	5				
OR51G2	81282	broad.mit.edu	37	11	4936589	4936589	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:4936589C>T	uc001lzr.1	-	1	305	c.305G>A	c.(304-306)TGC>TAC	p.C102Y		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGCAAAGCAGGCATCATG	0.522		NaN											0	0	0	0.009096	0	4	11				
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:5863035G>C	uc010qzq.1	-	1	93	c.93C>G	c.(91-93)TTC>TTG	p.F31L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458		NaN											0	0	0	0.012319	0	13	35				
IPO7	10527	broad.mit.edu	37	11	9450663	9450663	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:9450663G>A	uc001mho.2	+	14	1653	c.1511G>A	c.(1510-1512)TGT>TAT	p.C504Y		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	504					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAAGATGTCTGATTGAT	0.378		NaN											0	0	0	0.005443	0	18	4				
DKK3	27122	broad.mit.edu	37	11	11987391	11987391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:11987391G>T	uc001mju.2	-	6	852	c.795C>A	c.(793-795)TGC>TGA	p.C265*	DKK3_uc010rcf.1_Nonsense_Mutation_p.C237*|DKK3_uc001mjv.2_Nonsense_Mutation_p.C265*|DKK3_uc001mjw.2_Nonsense_Mutation_p.C265*|DKK3_uc010rcg.1_Nonsense_Mutation_p.C265*	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	265	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TGGCACAAGGGCATCGGTCCA	0.672		NaN											1	0	1.75199e-13	0.007291	1.91912e-13	21	1				
DKK3	27122	broad.mit.edu	37	11	12020244	12020244	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12020244T>A	uc001mju.2	-	3	491	c.434A>T	c.(433-435)CAC>CTC	p.H145L	DKK3_uc010rcf.1_Intron|DKK3_uc001mjv.2_Missense_Mutation_p.H145L|DKK3_uc001mjw.2_Missense_Mutation_p.H145L|DKK3_uc010rcg.1_Missense_Mutation_p.H145L	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	145					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		ACAACTTACGTGGCTCCTTCT	0.473		NaN											0	0	0	0.003755	0	32	1				
MICAL2	9645	broad.mit.edu	37	11	12247859	12247859	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12247859G>A	uc001mjz.2	+	14	2118	c.1830G>A	c.(1828-1830)ATG>ATA	p.M610I	MICAL2_uc010rch.1_Missense_Mutation_p.M610I|MICAL2_uc001mka.2_Missense_Mutation_p.M610I|MICAL2_uc010rci.1_Missense_Mutation_p.M610I|MICAL2_uc001mkb.2_Missense_Mutation_p.M610I|MICAL2_uc001mkc.2_Missense_Mutation_p.M610I|MICAL2_uc001mkd.2_Missense_Mutation_p.M439I|MICAL2_uc010rcj.1_Missense_Mutation_p.M12I	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	610	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGCTCAGCATGGTCATGTACC	0.582		NaN											0	0	0	0.00361	0	47	7				
PDE3B	5140	broad.mit.edu	37	11	14856593	14856593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:14856593C>T	uc001mln.2	+	11	2625	c.2272C>T	c.(2272-2274)CCT>TCT	p.P758S	PDE3B_uc010rcr.1_Missense_Mutation_p.P707S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	758	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						ACGGCCAGTTCCTGGCTTACA	0.383		NaN											0	0	0	0.00361	0	41	40				
LDHC	3948	broad.mit.edu	37	11	18434294	18434294	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:18434294G>A	uc001mon.3	+	2	142	c.30G>A	c.(28-30)GAG>GAA	p.E10E	LDHC_uc001mom.3_Silent_p.E10E|LDHC_uc009yhp.2_Silent_p.E10E|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	10					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	AGCTAATTGAGAAGCTAATTG	0.393		NaN											0	0	0	0.00245	0	12	52				
NELL1	4745	broad.mit.edu	37	11	20940866	20940866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:20940866A>T	uc001mqe.2	+	7	898	c.745A>T	c.(745-747)AAG>TAG	p.K249*	NELL1_uc001mqf.2_Nonsense_Mutation_p.K249*|NELL1_uc009yid.2_Nonsense_Mutation_p.K277*|NELL1_uc010rdo.1_Nonsense_Mutation_p.K192*|NELL1_uc010rdp.1_Nonsense_Mutation_p.K9*	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	249					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GCTTTTGGCCAAGATGACTGC	0.318		NaN											0	0	0	0.003271	0	26	40				
CCDC73	493860	broad.mit.edu	37	11	32781668	32781668	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:32781668A>T	uc001mtv.2	-	2	166	c.122T>A	c.(121-123)TTG>TAG	p.L41*	CCDC73_uc001mtw.1_Nonsense_Mutation_p.L41*|CCDC73_uc009yjt.2_Nonsense_Mutation_p.L41*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	41										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TCTCATACGCAATTCTTCTAA	0.289		NaN											0	0	0	0.001168	0	5	111				
HIPK3	10114	broad.mit.edu	37	11	33370305	33370305	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:33370305C>T	uc001mul.1	+	13	2877	c.2607C>T	c.(2605-2607)GTC>GTT	p.V869V	HIPK3_uc001mum.1_Silent_p.V848V|HIPK3_uc009yjv.1_Silent_p.V848V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	869	SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CAGTGAGTGTCATCACTATCA	0.473		NaN											0	0	0	0.00361	0	56	84				
ABTB2	25841	broad.mit.edu	37	11	34226117	34226117	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:34226117G>A	uc001mvl.1	-	2	676	c.446C>T	c.(445-447)ACC>ATC	p.T149I		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	149							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCCACGCAGGTGGCCAGGAG	0.642		NaN											0	0	0	0.00361	0	36	33				
LRRC4C	57689	broad.mit.edu	37	11	40136115	40136115	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:40136115C>A	uc001mxa.1	-	2	3692	c.1728G>T	c.(1726-1728)ACG>ACT	p.T576T	LRRC4C_uc001mxc.1_Silent_p.T572T|LRRC4C_uc001mxd.1_Silent_p.T572T|LRRC4C_uc001mxb.1_Silent_p.T572T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	576					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGTCTCCCGTAATCTCAT	0.458		NaN											1	0	1.42923e-14	0.00361	1.58117e-14	44	59				
EXT2	2132	broad.mit.edu	37	11	44255775	44255775	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:44255775G>T	uc001mxz.2	+	12	2251	c.1917G>T	c.(1915-1917)ACG>ACT	p.T639T	EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	639	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CCAACGTCACGGGAAAAGCAG	0.284		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				1	0	8.24728e-16	0.004656	9.1851e-16	23	16				
CKAP5	9793	broad.mit.edu	37	11	46802036	46802036	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:46802036C>T	uc001ndi.1	-	19	2360	c.2250_splice	c.e19-1	p.G750_splice	CKAP5_uc009ylg.1_Splice_Site_p.G636_splice|CKAP5_uc001ndj.1_Splice_Site_p.G750_splice	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GACATTCAACCTAGAAGAAAC	0.338		NaN											0	0	0	0.00245	0	11	10				
OR4C3	256144	broad.mit.edu	37	11	48346740	48346740	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:48346740C>T	uc010rhv.1	+	1	248	c.248C>T	c.(247-249)CCT>CTT	p.P83L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGGCTTCCCCTGTGTATTTT	0.458		NaN											0	0	0	0.001168	0	3	35				
OR5AS1	219447	broad.mit.edu	37	11	55798291	55798291	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55798291A>G	uc010riw.1	+	1	397	c.397A>G	c.(397-399)ACT>GCT	p.T133A		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					ACTGCTCTATACTACACTGAT	0.463		NaN											0	0	0	0.009535	0	33	25				
OR8H3	390152	broad.mit.edu	37	11	55890516	55890516	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55890516C>T	uc001nii.1	+	1	668	c.668C>T	c.(667-669)TCT>TTT	p.S223F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TCCATTCTCTCTACCATCCTG	0.418		NaN											0	0	0	0.00361	0	53	57				
OR5R1	219479	broad.mit.edu	37	11	56185025	56185025	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56185025G>A	uc010rji.1	-	1	684	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GAGTAGAGCGGATCCTTAGGA	0.443		NaN											0	0	0	0.005524	0	29	41				
OR5M10	390167	broad.mit.edu	37	11	56345172	56345172	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56345172A>G	uc001niz.1	-	1	26	c.26T>C	c.(25-27)GTG>GCG	p.V9A		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAATTCTGTCACTATGGTGTG	0.433		NaN											0	0	0	0.010771	0	38	59				
VWCE	220001	broad.mit.edu	37	11	61026169	61026170	+	Missense_Mutation	DNP	CG	CG	GA	rs143205377	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:61026169_61026170CG>GA	uc001nra.2	-	20	3124_3125	c.2845_2846CG>TC	c.(2845-2847)CGG>TCG	p.R949S	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	949						extracellular region	calcium ion binding			ovary(1)	1						CTCTTCCCCCCGAGAAGCCCCC	0.663		NaN											0	0	0	0.004672	0	15	27				
AHNAK	79026	broad.mit.edu	37	11	62292550	62292550	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:62292550C>A	uc001ntl.2	-	5	9639	c.9339G>T	c.(9337-9339)CTG>CTT	p.L3113L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3113					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACTTTTGGCAGAGACACAT	0.473		NaN											1	0	2.68928e-46	0.00361	3.18128e-46	96	127				
CDCA5	113130	broad.mit.edu	37	11	64847132	64847132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64847132G>A	uc001ocp.2	-	5	536	c.371C>T	c.(370-372)TCC>TTC	p.S124F		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	124					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0						CTTGGAGCTGGACTCGGCCTC	0.607		NaN											0	0	0	0.001168	0	5	2				
PELI3	246330	broad.mit.edu	37	11	66236342	66236342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66236342G>C	uc001oic.3	+	3	355	c.191G>C	c.(190-192)AGA>ACA	p.R64T	PELI3_uc001oib.2_Missense_Mutation_p.R64T|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	64						cytosol	protein binding			ovary(1)	1						gaggctcagagaggggaagtg	0		NaN											0	0	0	0.00308	0	8	8				
RBM14	10432	broad.mit.edu	37	11	66392723	66392723	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66392723G>T	uc001oit.2	+	2	1515	c.1376G>T	c.(1375-1377)GGC>GTC	p.G459V	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	459	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CCAATGGCTGGCTCCTATGGG	0.622		NaN											1	0	4.15467e-78	0.00361	4.9588e-78	84	107				
CTTN	2017	broad.mit.edu	37	11	70277332	70277332	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:70277332G>C	uc001opv.3	+	15	1418	c.1212G>C	c.(1210-1212)GTG>GTC	p.V404V	CTTN_uc001opu.2_Silent_p.V367V|CTTN_uc001opw.3_Silent_p.V367V|CTTN_uc010rqm.1_Silent_p.V88V|CTTN_uc001opx.2_Silent_p.V88V	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	404						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCCCCCTGTGTCGCCCGCAC	0.562		NaN											0	0	0	0.00361	0	71	82				
NADSYN1	55191	broad.mit.edu	37	11	71169536	71169536	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:71169536T>C	uc001oqn.2	+	3	335	c.209T>C	c.(208-210)CTA>CCA	p.L70P	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	70	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCAAGTCCTAGCGGCCCTT	0.542		NaN											0	0	0	0.012213	0	27	67				
SLCO2B1	11309	broad.mit.edu	37	11	74911311	74911311	+	Missense_Mutation	SNP	G	G	A	rs149242910	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:74911311G>A	uc001owb.2	+	11	2029	c.1642G>A	c.(1642-1644)GTG>ATG	p.V548M	SLCO2B1_uc010rrq.1_Missense_Mutation_p.V293M|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V404M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V432M|SLCO2B1_uc001owc.2_Missense_Mutation_p.V321M|SLCO2B1_uc001owd.2_Missense_Mutation_p.V526M	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	548	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GGGCAACCCCGTGCTGGCAGG	0.632		NaN											0	0	0	0.00361	0	82	110				
PRKRIR	5612	broad.mit.edu	37	11	76062849	76062849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76062849C>G	uc001oxh.1	-	5	1345	c.1345G>C	c.(1345-1347)GAT>CAT	p.D449H	PRKRIR_uc010rrz.1_Missense_Mutation_p.D274H	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	449					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						TTTATACCATCTAAACATAAA	0.383		NaN											0	0	0	0.010818	0	24	24				
CAPN5	726	broad.mit.edu	37	11	76826502	76826502	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76826502A>G	uc001oxx.2	+	6	946	c.761A>G	c.(760-762)TAC>TGC	p.Y254C	CAPN5_uc009yup.2_Missense_Mutation_p.Y294C|CAPN5_uc009yuq.2_Missense_Mutation_p.Y290C|CAPN5_uc001oxy.2_Missense_Mutation_p.Y294C	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	254	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GGCCACGCATACGCCGTCACT	0.642		NaN											0	0	0	0.008291	0	8	17				
GRM5	2915	broad.mit.edu	37	11	88780576	88780576	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:88780576G>T	uc001pcq.2	-	1	665	c.465C>A	c.(463-465)GCC>GCA	p.A155A	GRM5_uc009yvm.2_Silent_p.A155A|GRM5_uc009yvn.1_Silent_p.A155A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	155	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGACCTGAATGGCTACAGAAC	0.493		NaN											1	0	7.11191e-15	0.002836	7.88108e-15	27	21				
FAT3	120114	broad.mit.edu	37	11	92532922	92532922	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:92532922A>G	uc001pdj.3	+	9	6760	c.6743A>G	c.(6742-6744)TAT>TGT	p.Y2248C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2248	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTTTGGATTATGAAGTTACA	0.423		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.004482	0	9	4				
AMOTL1	154810	broad.mit.edu	37	11	94597966	94597966	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:94597966C>T	uc001pfb.2	+	10	2372	c.2202C>T	c.(2200-2202)ATC>ATT	p.I734I	AMOTL1_uc001pfc.2_Silent_p.I684I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	734	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGGCCCACATCTGGCAAGAGG	0.557		NaN											0	0	0	0.006999	0	30	134				
ATM	472	broad.mit.edu	37	11	108175524	108175524	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:108175524T>C	uc001pkb.1	+	37	6004	c.5619T>C	c.(5617-5619)TGT>TGC	p.C1873C	ATM_uc009yxr.1_Silent_p.C1873C|ATM_uc001pke.1_Silent_p.C525C|ATM_uc001pkg.1_Silent_p.C230C|ATM_uc009yxt.1_Missense_Mutation_p.S17P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1873					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACCAGCTGTCTTCGACACT	0.368		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.010729	0	11	23				
C11orf57	55216	broad.mit.edu	37	11	111951225	111951225	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:111951225T>C	uc001pmr.3	+	4	944	c.263T>C	c.(262-264)CTT>CCT	p.L88P	C11orf57_uc001pmu.2_Missense_Mutation_p.L88P|C11orf57_uc001pmw.3_Missense_Mutation_p.L88P|C11orf57_uc001pmt.3_Missense_Mutation_p.L88P|C11orf57_uc001pmv.3_Missense_Mutation_p.L88P|C11orf57_uc001pms.3_Missense_Mutation_p.L59P	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	88										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GATGATTTTCTTAAGGCTAAA	0.373		NaN											0	0	0	0.008291	0	9	31				
BUD13	84811	broad.mit.edu	37	11	116643573	116643573	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:116643573T>A	uc001ppn.2	-	1	142	c.108A>T	c.(106-108)AAA>AAT	p.K36N	BUD13_uc001ppo.2_Missense_Mutation_p.K36N|BUD13_uc009yzc.2_Missense_Mutation_p.K36N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	36										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCGGCCGCTTTTTGCGACGCT	0.692		NaN											0	0	0	0.004482	0	6	3				
OR8B8	26493	broad.mit.edu	37	11	124310918	124310918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124310918C>A	uc010sal.1	-	1	64	c.64G>T	c.(64-66)GGA>TGA	p.G22*		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCTGGACTCCCGGTTGGTCA	0.502		NaN											1	0	6.55177e-30	0.007291	7.64182e-30	20	42				
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124440003C>T	uc010san.1	+	1	39	c.39C>T	c.(37-39)CCC>CCT	p.P13P		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522		NaN											0	0	0	0.00499	0	16	11				
NFRKB	4798	broad.mit.edu	37	11	129758510	129758510	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:129758510T>A	uc001qfi.2	-	4	517	c.316A>T	c.(316-318)ATT>TTT	p.I106F	NFRKB_uc001qfg.2_Missense_Mutation_p.I119F|NFRKB_uc001qfh.2_Missense_Mutation_p.I129F|NFRKB_uc010sbw.1_Missense_Mutation_p.I106F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	106					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCTGGGCAATGTGCAGAGGG	0.493		NaN											0	0	0	0.00623	0	28	46				
SNX19	399979	broad.mit.edu	37	11	130785171	130785171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:130785171C>T	uc001qgk.3	-	1	1212	c.664G>A	c.(664-666)GGG>AGG	p.G222R	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.G222R|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	222	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCACCAGCCCTTGAAGCAAC	0.567		NaN											0	0	0	0.007413	0	14	12				
B4GALNT3	283358	broad.mit.edu	37	12	662804	662804	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:662804A>T	uc001qii.1	+	14	1715	c.1715A>T	c.(1714-1716)CAG>CTG	p.Q572L	B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475L|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	572	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCGCAGAGCAGAGACGGGGT	0.637		NaN											0	0	0	0.012213	0	24	23				
C12orf4	57102	broad.mit.edu	37	12	4599748	4599748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:4599748C>T	uc001qms.2	-	13	1594	c.1506G>A	c.(1504-1506)ATG>ATA	p.M502I	C12orf4_uc001qmt.2_Missense_Mutation_p.M502I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	502											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCATTTCCATCATGAAACCTA	0.388		NaN											0	0	0	0.007835	0	31	37				
LAG3	3902	broad.mit.edu	37	12	6882428	6882428	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:6882428C>A	uc001qqt.3	+	2	478	c.129C>A	c.(127-129)CCC>CCA	p.P43P	LAG3_uc001qqs.2_Silent_p.P43P|LAG3_uc001qqu.2_Translation_Start_Site	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	43	Ig-like V-type.|Extracellular (Potential).					integral to membrane	antigen binding|MHC class II protein binding				0						CCCAGCTCCCCTGCAGCCCCA	0.637		NaN											1	0	6.2361e-21	0.007835	7.12392e-21	38	23				
APOBEC1	339	broad.mit.edu	37	12	7805283	7805283	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:7805283T>C	uc001qtb.2	-	3	227	c.193A>G	c.(193-195)AAT>GAT	p.N65D	APOBEC1_uc001qtc.2_Missense_Mutation_p.N20D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N65D	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	65					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						tttataaaattaaCTTCCACG	0.473		NaN											0	0	0	0.004672	0	2	10				
SLC2A3	6515	broad.mit.edu	37	12	8083210	8083210	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8083210G>T	uc001qtr.2	-	5	801	c.539C>A	c.(538-540)TCT>TAT	p.S180Y	SLC2A3_uc001qts.2_Missense_Mutation_p.S180Y	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	180	Extracellular (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TAGCTCTTCAGACCCAAGGAT	0.438		NaN											1	0	6.53348e-20	0.003755	7.43811e-20	29	25				
MFAP5	8076	broad.mit.edu	37	12	8800748	8800748	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8800748G>A	uc001qut.1	-	10	674	c.461C>T	c.(460-462)TCC>TTC	p.S154F	MFAP5_uc001qus.2_Missense_Mutation_p.S144F|MFAP5_uc009zge.1_Missense_Mutation_p.S129F	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	154						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					GAAGTAATTGGAGCGACGGAG	0.453		NaN											0	0	0	0.005524	0	26	29				
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:11420862T>G	uc001qzs.2	-	3	359	c.321A>C	c.(319-321)GGA>GGC	p.G107G	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632		NaN											0	0	0	0.010729	0	4	162				
STRAP	11171	broad.mit.edu	37	12	16036570	16036570	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:16036570G>T	uc001rdc.3	+	2	562	c.208G>T	c.(208-210)GAT>TAT	p.D70Y	STRAP_uc010shw.1_Missense_Mutation_p.D83Y|STRAP_uc001rdd.3_Intron	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	70	WD 2.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				ACTGAATAAGGATGCCACCAA	0.458		NaN											1	0	5.91797e-21	0.012213	6.77211e-21	25	17				
SLCO1C1	53919	broad.mit.edu	37	12	20886039	20886039	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:20886039G>C	uc001rej.3	+	11	1737	c.1382_splice	c.e11+1	p.G461_splice	SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CCTACCAAGGGTATGTTCCCT	0.363		NaN											0	0	0	0.00361	0	72	63				
NELL2	4753	broad.mit.edu	37	12	44926364	44926364	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:44926364C>T	uc001rog.2	-	16	2399	c.1804G>A	c.(1804-1806)GAT>AAT	p.D602N	NELL2_uc001rof.3_Missense_Mutation_p.D601N|NELL2_uc001roh.2_Missense_Mutation_p.D602N|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.D652N|NELL2_uc010sla.1_Missense_Mutation_p.D625N|NELL2_uc001roi.1_Missense_Mutation_p.D602N|NELL2_uc010slb.1_3'UTR	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	602	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D602N(1)		skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTACTGACCTTCACACGAT	0.403		NaN											0	0	0	0.00361	0	75	67				
HDAC7	51564	broad.mit.edu	37	12	48191920	48191920	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48191920G>C	uc009zkv.1	-	3	530	c.315C>G	c.(313-315)GTC>GTG	p.V105V	HDAC7_uc010slo.1_Silent_p.V144V|HDAC7_uc001rqj.3_Silent_p.V144V|HDAC7_uc001rqk.3_Silent_p.V127V			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	105	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TGTTGGGATGGACTGTTCTTT	0.602		NaN											0	0	0	0.00361	0	188	214				
COL2A1	1280	broad.mit.edu	37	12	48375906	48375906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48375906C>A	uc001rqu.2	-	35	2520	c.2339G>T	c.(2338-2340)GGA>GTA	p.G780V	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G711V	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	780	Triple-helical region.		G -> R (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCATCCTTTCCAGGGGCTCC	0.617		NaN											1	0	1.33835e-49	0.00361	1.58602e-49	79	126				
ZNF641	121274	broad.mit.edu	37	12	48739259	48739259	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48739259T>A	uc001rrn.1	-	4	484	c.319_splice	c.e4-1	p.G107_splice	ZNF641_uc001rro.1_Splice_Site_p.G93_splice|ZNF641_uc010sls.1_Intron	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						TACCAGGCCCTGAAACAAAAT	0.448		NaN											0	0	0	0.00361	0	33	34				
MLL2	8085	broad.mit.edu	37	12	49420164	49420164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420164C>G	uc001rta.3	-	48	15585	c.15585G>C	c.(15583-15585)CAG>CAC	p.Q5195H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5195	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGTCAGCCATCTGGTGAGGCA	0.587		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.00278	0	19	26		Valid		
MLL2	8085	broad.mit.edu	37	12	49420438	49420438	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420438C>T	uc001rta.3	-	48	15311	c.15311G>A	c.(15310-15312)TGC>TAC	p.C5104Y		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5104	RING-type 4; degenerate.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CATGCGATTGCAGCTGCTGGT	0.562		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.003271	0	32	32		Valid		
TUBA1A	7846	broad.mit.edu	37	12	49579351	49579351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49579351G>C	uc009zlf.2	-	4	1070	c.798C>G	c.(796-798)CAC>CAG	p.H266Q	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.H266Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.H113Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.H113Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.H113Q	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	266					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CCAGAGGGAAGTGGATGCGGG	0.512		NaN											0	0	0	0.003954	0	18	95				
DNAJC22	79962	broad.mit.edu	37	12	49745187	49745187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49745187C>A	uc001rua.2	+	3	1329	c.928C>A	c.(928-930)CTG>ATG	p.L310M	DNAJC22_uc001rub.2_Missense_Mutation_p.L310M	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	310	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						AGACCACAACCTGGACCAGAC	0.542		NaN											1	0	1.13719e-10	0.008361	1.22354e-10	25	33				
NCKAP5L	57701	broad.mit.edu	37	12	50189721	50189721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:50189721G>T	uc009zlk.2	-	8	2124	c.1922C>A	c.(1921-1923)TCA>TAA	p.S641*	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S234*	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	637										central_nervous_system(1)	1						CTTCTTGGATGAGTTGCCTGG	0.652		NaN											1	0	2.0095e-06	0.001984	2.08462e-06	6	2				
ACVRL1	94	broad.mit.edu	37	12	52312784	52312784	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52312784A>G	uc001rzj.2	+	9	1545	c.1262A>G	c.(1261-1263)TAT>TGT	p.Y421C	ACVRL1_uc001rzk.2_Missense_Mutation_p.Y421C|ACVRL1_uc010snm.1_Missense_Mutation_p.Y247C	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	421	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTGGAGGACTATAGACCACCC	0.532		NaN							Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.00361	0	52	54				
KRT85	3891	broad.mit.edu	37	12	52758771	52758771	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52758771C>T	uc001sag.2	-	2	724	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	202	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCACCTCCTGCACATGG	0.622		NaN											0	0	0	0.00361	0	99	157				
GDF11	10220	broad.mit.edu	37	12	56143318	56143318	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56143318C>G	uc001shq.2	+	3	913	c.876C>G	c.(874-876)AAC>AAG	p.N292K	GDF11_uc010spv.1_Missense_Mutation_p.N292K	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	292					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCTAGAGAACACAAAACGTT	0.547		NaN											0	0	0	0.008361	0	25	74				
PAN2	9924	broad.mit.edu	37	12	56713447	56713447	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56713447C>A	uc001skx.2	-	22	3433	c.3060G>T	c.(3058-3060)GAG>GAT	p.E1020D	PAN2_uc001skw.2_Missense_Mutation_p.E168D|PAN2_uc001skz.2_Missense_Mutation_p.E1019D|PAN2_uc001sky.2_Missense_Mutation_p.E1016D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1020	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGGGGATACCCTCATTGGGTC	0.498		NaN											1	0	9.31168e-06	0.001855	9.58513e-06	13	50				
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:57033894G>A	uc001slr.2	-	8	1262	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						AATGGCACGCGACAGTACAGT	0.512		NaN											0	0	0	0.004656	0	23	44				
BEST3	144453	broad.mit.edu	37	12	70070964	70070964	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:70070964G>A	uc001svg.2	-	6	937	c.710C>T	c.(709-711)ACC>ATC	p.T237I	BEST3_uc001svd.1_Missense_Mutation_p.T237I|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.T75I|BEST3_uc010stm.1_Missense_Mutation_p.T131I|BEST3_uc001svh.2_Missense_Mutation_p.T75I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	237						chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTACCTGGGTGTAAACCAG	0.478		NaN											0	0	0	0.009096	0	4	16				
ALX1	8092	broad.mit.edu	37	12	85695132	85695132	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:85695132C>T	uc001tae.3	+	4	864	c.860C>T	c.(859-861)ACT>ATT	p.T287I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	287					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCTCTTCTTACTGGGGCAACC	0.493		NaN											0	0	0	0.008871	0	18	51				
CEP290	80184	broad.mit.edu	37	12	88482860	88482860	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:88482860C>A	uc001tar.2	-	31	4322	c.3978G>T	c.(3976-3978)AAG>AAT	p.K1326N	CEP290_uc001taq.2_Missense_Mutation_p.K386N	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1326	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CTTCCAGGCCCTTTAATTTTA	0.259		NaN											1	0	3.62473e-10	0.012319	3.88114e-10	17	12				
ATP2B1	490	broad.mit.edu	37	12	90004246	90004246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:90004246G>A	uc001tbh.2	-	13	2468	c.2287C>T	c.(2287-2289)CGA>TGA	p.R763*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	763	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GCAAGTACTCGAAGTTTTGGC	0.323		NaN											0	0	0	0.00361	0	43	123				
ANKS1B	56899	broad.mit.edu	37	12	100048914	100048914	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:100048914T>A	uc001tge.1	-	9	1620	c.1203A>T	c.(1201-1203)CCA>CCT	p.P401P	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.P367P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	401						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGTCCTGATGGCCCACACG	0.393		NaN											0	0	0	0.008871	0	16	12				
GLTP	51228	broad.mit.edu	37	12	110290444	110290444	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:110290444G>C	uc001tpm.2	-	5	660	c.546C>G	c.(544-546)CTC>CTG	p.L182L	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	182						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGACTAGGAAGAGGCGGATCT	0.537		NaN									OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	140	213				
C12orf51	283450	broad.mit.edu	37	12	112720937	112720937	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:112720937T>C	uc009zwc.2	-	2	341	c.323A>G	c.(322-324)AAC>AGC	p.N108S		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTTCAGTGTGTTGGAGATGGT	0.478		NaN											0	0	0	0.00623	0	27	18				
RASAL1	8437	broad.mit.edu	37	12	113565880	113565880	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:113565880C>A	uc001tum.1	-	4	519	c.226G>T	c.(226-228)GAC>TAC	p.D76Y	RASAL1_uc010syp.1_Missense_Mutation_p.D76Y|RASAL1_uc001tul.2_Missense_Mutation_p.D76Y|RASAL1_uc001tun.1_Missense_Mutation_p.D76Y|RASAL1_uc010syq.1_Missense_Mutation_p.D76Y|RASAL1_uc001tuo.3_Missense_Mutation_p.D76Y|RASAL1_uc010syr.1_Missense_Mutation_p.D76Y	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	76	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						CCGACAGTGTCCTCATCCAGC	0.617		NaN											1	0	1.72433e-176	0.00361	2.07293e-176	309	201				
NOS1	4842	broad.mit.edu	37	12	117724011	117724011	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:117724011A>G	uc001twm.1	-	6	1874	c.1188T>C	c.(1186-1188)ACT>ACC	p.T396T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	396					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTAAGTGCTAGTGGTGTCGA	0.562		NaN											0	0	0	0.003163	0	14	31				
KSR2	283455	broad.mit.edu	37	12	118293355	118293355	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118293355T>G	uc001two.2	-	3	318	c.263A>C	c.(262-264)GAG>GCG	p.E88A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	117					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAGGTCCTCCAGGCTCAG	0.612		NaN											0	0	0	0.009535	0	26	20				
VSIG10	54621	broad.mit.edu	37	12	118511557	118511557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118511557C>G	uc001tws.2	-	5	1500	c.1166G>C	c.(1165-1167)CGA>CCA	p.R389P		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	389	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0						GCTGTCAGCTCGGCAGATGTA	0.577		NaN											0	0	0	0.00361	0	48	36				
CIT	11113	broad.mit.edu	37	12	120195199	120195199	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:120195199C>T	uc001txi.1	-	21	2609	c.2556G>A	c.(2554-2556)CTG>CTA	p.L852L	CIT_uc001txh.1_Silent_p.L386L|CIT_uc001txj.1_Silent_p.L894L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	852	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTCCAGTTCCAGCAGCCGAT	0.557		NaN											0	0	0	0.00361	0	189	308				
HIP1R	9026	broad.mit.edu	37	12	123333067	123333067	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123333067C>T	uc001udj.1	+	3	271	c.212C>T	c.(211-213)GCC>GTC	p.A71V	HIP1R_uc001udg.1_Missense_Mutation_p.A59V|HIP1R_uc001udi.1_Missense_Mutation_p.A71V|HIP1R_uc001udh.2_Missense_Mutation_p.A71V	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	71	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGTCCTACGCCATTGGGCTG	0.597		NaN											0	0	0	0.012319	0	18	46				
SBNO1	55206	broad.mit.edu	37	12	123782653	123782653	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123782653T>A	uc010tap.1	-	30	3911	c.3911A>T	c.(3910-3912)TAT>TTT	p.Y1304F	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.Y1303F|SBNO1_uc010taq.1_Missense_Mutation_p.Y255F	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1304							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATACATAATATGTACGGCA	0.438		NaN											0	0	0	0.003755	0	30	56				
DNAH10	196385	broad.mit.edu	37	12	124403343	124403343	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124403343C>T	uc001uft.3	+	64	11024	c.10999C>T	c.(10999-11001)CTG>TTG	p.L3667L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3667					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGATGGCCCTGGTGAACTC	0.577		NaN											0	0	0	0.006214	0	7	16				
ZNF664	144348	broad.mit.edu	37	12	124497333	124497333	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124497333G>C	uc001ufz.2	+	6	2472	c.642G>C	c.(640-642)CTG>CTC	p.L214L	ZNF664_uc001uga.2_Silent_p.L214L|ZNF664_uc001ugb.2_Silent_p.L214L	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	214	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTTCGAGCCTGTGCATCCACC	0.527		NaN											0	0	0	0.001168	0	3	94				
SFRS8	6433	broad.mit.edu	37	12	132241141	132241141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:132241141A>T	uc001uja.1	+	11	1812	c.1672A>T	c.(1672-1674)AAG>TAG	p.K558*	SFRS8_uc010tbn.1_Nonsense_Mutation_p.K558*|SFRS8_uc001ujb.1_Nonsense_Mutation_p.K351*	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	558					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGGCGGGAAGAAGGAGGCATC	0.607		NaN											0	0	0	0.008291	0	9	14				
RNF17	56163	broad.mit.edu	37	13	25362208	25362208	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:25362208G>C	uc001upr.2	+	7	735	c.694G>C	c.(694-696)GAG>CAG	p.E232Q	RNF17_uc010tdd.1_Missense_Mutation_p.E91Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E232Q|RNF17_uc001ups.2_Missense_Mutation_p.E171Q|RNF17_uc001upq.1_Missense_Mutation_p.E232Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTACATTGAAGAGAAAAAAAA	0.303		NaN											0	0	0	0.007413	0	19	14				
FRY	10129	broad.mit.edu	37	13	32869562	32869562	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:32869562C>G	uc001utx.2	+	61	9503	c.9007C>G	c.(9007-9009)CTT>GTT	p.L3003V	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.L534V|FRY_uc010tdx.1_Missense_Mutation_p.L373V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	3003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CACTACTTTTCTTCCAGACTC	0.567		NaN											0	0	0	0.010818	0	27	25				
FREM2	341640	broad.mit.edu	37	13	39265823	39265823	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:39265823G>C	uc001uwv.2	+	1	4651	c.4342G>C	c.(4342-4344)GAC>CAC	p.D1448H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1448	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGCACTAGTGACTTGAACAG	0.488		NaN											0	0	0	0.005524	0	31	30				
ZIC2	7546	broad.mit.edu	37	13	100634920	100634920	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:100634920G>C	uc001von.2	+	1	602	c.602G>C	c.(601-603)CGG>CCG	p.R201P		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	201	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGCCCGCGGACCGACCCC	0.627		NaN											0	0	0	0.001984	0	7	24				
TMTC4	84899	broad.mit.edu	37	13	101315400	101315400	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:101315400C>A	uc001vou.2	-	4	473	c.313G>T	c.(313-315)GTG>TTG	p.V105L	TMTC4_uc001vot.2_Missense_Mutation_p.V124L|TMTC4_uc010tja.1_Intron	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	105						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAAGCCCACGGGGTGGAAG	0.562		NaN											1	0	4.10826e-27	0.00361	4.75018e-27	37	50				
ACIN1	22985	broad.mit.edu	37	14	23528466	23528466	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:23528466C>T	uc001wit.3	-	19	4245	c.3917G>A	c.(3916-3918)AGG>AAG	p.R1306K	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R548K|ACIN1_uc001wiq.3_Missense_Mutation_p.R548K|ACIN1_uc001wir.3_Missense_Mutation_p.R579K|ACIN1_uc001wis.3_Missense_Mutation_p.R987K|ACIN1_uc010akg.2_Missense_Mutation_p.R1293K	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1306	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCTTTCCCTATCCCGATC	0.507		NaN									OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010818	0	25	95				
RABGGTA	5875	broad.mit.edu	37	14	24738749	24738749	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24738749G>A	uc001wof.2	-	5	1001	c.579C>T	c.(577-579)CCC>CCT	p.P193P	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Silent_p.P193P|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	193	PFTA 4.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		AATCCGGCTGGGGGTGCAGCT	0.592		NaN											0	0	0	0.00361	0	40	156				
ADCY4	196883	broad.mit.edu	37	14	24800296	24800296	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24800296G>A	uc001wov.2	-	6	864	c.858C>T	c.(856-858)GCC>GCT	p.A286A	ADCY4_uc001wow.2_Silent_p.A286A|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.A286A|ADCY4_uc001woy.2_Silent_p.A286A	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	286	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AACACTCGCTGGCCAGCCGCG	0.602		NaN											0	0	0	0.012213	0	21	29				
FOXG1	2290	broad.mit.edu	37	14	29237880	29237880	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:29237880G>A	uc001wqe.2	+	1	1594	c.1395G>A	c.(1393-1395)ACG>ACA	p.T465T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	465					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTTTACGACGGGACTGTCTG	0.547		NaN											0	0	0	0.00361	0	41	50				
SOS2	6655	broad.mit.edu	37	14	50649252	50649252	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:50649252C>T	uc001wxs.3	-	6	885	c.787G>A	c.(787-789)GAC>AAC	p.D263N	SOS2_uc010tql.1_Missense_Mutation_p.D263N|SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	263	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCAACTGTGTCTTCAATCAAA	0.333		NaN											0	0	0	0.001855	0	11	19				
C14orf101	54916	broad.mit.edu	37	14	57083924	57083924	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:57083924T>C	uc001xcm.2	+	9	1087	c.965T>C	c.(964-966)GTA>GCA	p.V322A	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	322	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCATCATTAGTATGGCTTTTT	0.284		NaN											0	0	0	0.001368	0	9	29				
SLC38A6	145389	broad.mit.edu	37	14	61486258	61486258	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:61486258G>C	uc001xfg.1	+	5	480	c.364_splice	c.e5-1	p.L122_splice	SLC38A6_uc001xfh.1_Splice_Site_p.L122_splice|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Splice_Site_p.L99_splice	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTCTTTTACAGTTGGTGGTGG	0.323		NaN											0	0	0	0.00278	0	20	86				
SGPP1	81537	broad.mit.edu	37	14	64153045	64153045	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64153045C>A	uc001xgj.2	-	3	1198	c.1104G>T	c.(1102-1104)CGG>CGT	p.R368R		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	368	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CTATGAGGATCCGCAATATGG	0.378		NaN											1	0	1.64113e-05	0.010504	1.68672e-05	19	40				
MTHFD1	4522	broad.mit.edu	37	14	64898301	64898301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64898301C>T	uc001xhb.2	+	14	1750	c.1363C>T	c.(1363-1365)CTC>TTC	p.L455F	MTHFD1_uc010aqe.2_Missense_Mutation_p.L491F|MTHFD1_uc010aqf.2_Missense_Mutation_p.L511F	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTAATAACCTCGTTGCTGC	0.463		NaN											0	0	0	0.00361	0	40	28				
TMEM229B	161145	broad.mit.edu	37	14	67940532	67940532	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:67940532A>G	uc001xjk.2	-	3	519	c.109T>C	c.(109-111)TTG>CTG	p.L37L	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	37	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						TTCCAGTTCAAGTTCACCACG	0.632		NaN											0	0	0	0.003163	0	10	17				
ZFYVE26	23503	broad.mit.edu	37	14	68264756	68264756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:68264756C>G	uc001xka.2	-	11	2362	c.2223G>C	c.(2221-2223)AAG>AAC	p.K741N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K741N|ZFYVE26_uc010tta.1_Missense_Mutation_p.K741N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	741					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGTCACCACCTTGTGTCTCC	0.542		NaN											0	0	0	0.00361	0	83	36				
KIAA0317	9870	broad.mit.edu	37	14	75142403	75142403	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:75142403T>A	uc001xqb.2	-	8	1584	c.1079A>T	c.(1078-1080)AAG>ATG	p.K360M	KIAA0317_uc010tut.1_Missense_Mutation_p.K199M|KIAA0317_uc001xqc.2_Missense_Mutation_p.K360M	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AGGTCCAACCTTTGGTGACAC	0.478		NaN											0	0	0	0.00361	0	356	202				
C14orf102	55051	broad.mit.edu	37	14	90767622	90767622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:90767622G>C	uc001xyi.1	-	7	1537	c.1506C>G	c.(1504-1506)TTC>TTG	p.F502L	C14orf102_uc010atp.1_Missense_Mutation_p.F7L|C14orf102_uc001xyj.1_Missense_Mutation_p.F271L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	502							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGTCGGGTTTGAAGAAGGTGA	0.562		NaN											0	0	0	0.00361	0	42	24				
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:91077094G>A	uc001xyp.2	-	17	2080	c.1958C>T	c.(1957-1959)CCC>CTC	p.P653L	TTC7B_uc001xyo.2_Missense_Mutation_p.P80L|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653							binding			ovary(2)	2		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498		NaN											0	0	0	0.004482	0	8	106				
ASB2	51676	broad.mit.edu	37	14	94404063	94404063	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:94404063G>C	uc001ycc.1	-	7	2097	c.1608C>G	c.(1606-1608)GCC>GCG	p.A536A	ASB2_uc001ycb.1_Silent_p.A230A|ASB2_uc001ycd.2_Silent_p.A584A|ASB2_uc001yce.1_Silent_p.A482A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	536	SOCS box.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617		NaN											0	0	0	0.00361	0	49	28				
EML1	2009	broad.mit.edu	37	14	100402395	100402395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:100402395G>A	uc001ygs.2	+	18	2008	c.1939G>A	c.(1939-1941)GAC>AAC	p.D647N	EML1_uc010tww.1_Missense_Mutation_p.D635N|EML1_uc001ygr.2_Missense_Mutation_p.D666N	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	647	WD 8.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGCTCACATGACAACTGCAT	0.423		NaN											0	0	0	0.012319	0	15	51				
WDR20	91833	broad.mit.edu	37	14	102675273	102675273	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:102675273G>A	uc001ykz.2	+	3	815	c.766G>A	c.(766-768)GGT>AGT	p.G256S	WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Missense_Mutation_p.G132S|WDR20_uc001ylb.2_Missense_Mutation_p.G195S|WDR20_uc010txu.1_Missense_Mutation_p.G287S|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G256S|WDR20_uc001yle.2_Missense_Mutation_p.G195S|WDR20_uc001ylf.2_Missense_Mutation_p.G268S	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	256	WD 2.										0						GGAGCTGCACGGTACGATGAA	0.557		NaN											0	0	0	0.00632	0	24	1				
RCOR1	23186	broad.mit.edu	37	14	103188691	103188691	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:103188691A>T	uc001ymb.2	+	11	1348	c.1348A>T	c.(1348-1350)AGT>TGT	p.S450C		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	450					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						CAATGGGCCCAGTAACCAGAA	0.418		NaN											0	0	0	0.00361	0	53	44				
AHNAK2	113146	broad.mit.edu	37	14	105410488	105410488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:105410488G>A	uc010axc.1	-	7	11420	c.11300C>T	c.(11299-11301)CCC>CTC	p.P3767L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P3667L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3767						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCACGCTGGGCAGAGACAC	0.617		NaN											0	0	0	0.00361	0	82	97				
C15orf55	256646	broad.mit.edu	37	15	34640693	34640693	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:34640693A>G	uc001zif.2	+	2	695	c.540A>G	c.(538-540)CCA>CCG	p.P180P	C15orf55_uc010ucc.1_Silent_p.P208P|C15orf55_uc010ucd.1_Silent_p.P198P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	180	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAGCTTGGCCAGGGCCACATG	0.582		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	0.003163	0	10	7				
GJD2	57369	broad.mit.edu	37	15	35045148	35045148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:35045148G>A	uc001zis.1	-	2	497	c.497C>T	c.(496-498)CCA>CTA	p.P166L	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	166	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TAAACAATCTGGCTCTGTCTC	0.507		NaN											0	0	0	0.00361	0	61	122				
TP53BP1	7158	broad.mit.edu	37	15	43712625	43712625	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:43712625T>G	uc001zrs.2	-	21	4692	c.4544A>C	c.(4543-4545)TAT>TCT	p.Y1515S	TP53BP1_uc010udp.1_Missense_Mutation_p.Y1515S|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1520S|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1520S|TP53BP1_uc010udq.1_Missense_Mutation_p.Y1520S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1515	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCAATTTATACTTCCCAGC	0.488		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.004656	0	19	289				
SPATA5L1	79029	broad.mit.edu	37	15	45713304	45713304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:45713304C>T	uc001zve.2	+	8	2267	c.2158C>T	c.(2158-2160)CTA>TTA	p.L720L	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	720						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGAGCACTTTCTAAAATCACT	0.348		NaN											0	0	0	0.000602	0	5	9				
UNC13C	440279	broad.mit.edu	37	15	54306784	54306784	+	Missense_Mutation	SNP	G	G	C	rs142320070	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:54306784G>C	uc002ack.2	+	1	1684	c.1684G>C	c.(1684-1686)GAA>CAA	p.E562Q		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	562					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTACTCAGAAGATTTTTC	0.423		NaN											0	0	0	0.003163	0	12	4				
PIGB	9488	broad.mit.edu	37	15	55647054	55647054	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:55647054A>G	uc002act.2	+	11	1712	c.1396A>G	c.(1396-1398)AAA>GAA	p.K466E	PIGB_uc010ugg.1_Missense_Mutation_p.K271E	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	466					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		CCTGACTGGAAAAAGTCATTA	0.378		NaN											0	0	0	0.004007	0	10	5				
PAQR5	54852	broad.mit.edu	37	15	69677081	69677081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:69677081G>A	uc002arz.2	+	5	623	c.245G>A	c.(244-246)TGG>TAG	p.W82*	PAQR5_uc002asa.2_Nonsense_Mutation_p.W82*	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	82	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						AGCTACTCCTGGCCCATGCTT	0.527		NaN											0	0	0	0.00361	0	53	139				
TLE3	7090	broad.mit.edu	37	15	70389121	70389121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:70389121C>G	uc002asm.2	-	1	1136	c.17G>C	c.(16-18)AGA>ACA	p.R6T	TLE3_uc002ask.2_5'Flank|TLE3_uc002asl.2_5'Flank|TLE3_uc010ukd.1_5'Flank|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.R6T|TLE3_uc002asn.2_Missense_Mutation_p.R6T|TLE3_uc002asp.2_Missense_Mutation_p.R6T|TLE3_uc002aso.2_Missense_Mutation_p.R6T	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	6	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CACCGGATGTCTGCCCTGCGG	0.592		NaN											0	0	0	0.001855	0	9	29				
CYP1A1	1543	broad.mit.edu	37	15	75013618	75013618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75013618G>T	uc002ayp.3	-	5	1210	c.1088C>A	c.(1087-1089)TCC>TAC	p.S363Y	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.S99Y|CYP1A1_uc010bjx.2_Missense_Mutation_p.S99Y|CYP1A1_uc002ayq.3_Missense_Mutation_p.S363Y|CYP1A1_uc010bjy.2_Missense_Mutation_p.S363Y|CYP1A1_uc010bjz.1_Missense_Mutation_p.S99Y	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	363					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGGCAGATGGGATCTGTCAGA	0.607		NaN							Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				1	0	2.70639e-06	0.002299	2.8032e-06	19	43				
KIAA1024	23251	broad.mit.edu	37	15	79748439	79748439	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:79748439G>A	uc002bew.1	+	2	26	c.-49_splice	c.e2-1		KIAA1024_uc010unk.1_5'Flank	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251							integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGCCACCACAGAACTGACCTG	0.403		NaN											0	0	0	0.008291	0	8	6				
ADAMTSL3	57188	broad.mit.edu	37	15	84706492	84706492	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:84706492A>T	uc002bjz.3	+	30	5234	c.5010A>T	c.(5008-5010)AAA>AAT	p.K1670N	ADAMTSL3_uc010bmu.1_Intron	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1670	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTTGTAAAACATCTTAATT	0.373		NaN											0	0	0	0.00623	0	30	38				
TXNDC11	51061	broad.mit.edu	37	16	11794368	11794368	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:11794368T>A	uc010buu.1	-	7	989	c.927A>T	c.(925-927)AAA>AAT	p.K309N	TXNDC11_uc002dbg.1_Missense_Mutation_p.K282N	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	309					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGATACCAGTTTCGCAAGAT	0.328		NaN											0	0	0	0.00361	0	45	26				
PDILT	204474	broad.mit.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:20380853G>A	uc002dhc.1	-	8	1300	c.1077C>T	c.(1075-1077)CTC>CTT	p.L359L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	359					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						CAAATTTCTTGAGGCTTTCGT	0.443		NaN											0	0	0	0.00361	0	52	31				
SULT1A1	6817	broad.mit.edu	37	16	28617545	28617545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28617545C>G	uc002dqi.2	-	6	1080	c.607G>C	c.(607-609)GAG>CAG	p.E203Q	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dql.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqm.2_Missense_Mutation_p.E125Q|SULT1A1_uc002dqn.2_Missense_Mutation_p.E294Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.E203Q	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	203	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TTTTGAATCTCCCTTTTCGGG	0.542		NaN											0	0	0	0.001368	0	9	2				
ATP2A1	487	broad.mit.edu	37	16	28911941	28911941	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911941C>A	uc002dro.1	+	15	1988	c.1804C>A	c.(1804-1806)CCT>ACT	p.P602T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P602T|ATP2A1_uc002drp.1_Missense_Mutation_p.P477T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	602	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATGCTGGACCCTCCGCGCAA	0.612		NaN											1	0	2.78669e-64	0.00361	3.31417e-64	69	46				
ATP2A1	487	broad.mit.edu	37	16	28911981	28911981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911981G>A	uc002dro.1	+	15	2028	c.1844G>A	c.(1843-1845)CGT>CAT	p.R615H	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R615H|ATP2A1_uc002drp.1_Missense_Mutation_p.R490H	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	615	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGCTGTGCCGTGACGCCGGG	0.612		NaN											0	0	0	0.00361	0	50	42				
CD19	930	broad.mit.edu	37	16	28947484	28947484	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28947484G>C	uc002drs.2	+	6	1019	c.957G>C	c.(955-957)CTG>CTC	p.L319L	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L319L	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	319	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						CCCTGGTCCTGAGGAGGAAAA	0.547		NaN											0	0	0	0.007291	0	22	52				
ZNF646	9726	broad.mit.edu	37	16	31090894	31090894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31090894C>T	uc002eap.2	+	2	3538	c.3249C>T	c.(3247-3249)GTC>GTT	p.V1083V		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1083	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TCTGCCCTGTCTGCTCCCGCT	0.627		NaN											0	0	0	0.00361	0	129	272				
COX6A2	1339	broad.mit.edu	37	16	31439103	31439103	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31439103G>T	uc002ebx.1	-	3	361	c.286C>A	c.(286-288)CAC>AAC	p.H96N		NM_005205	NP_005196	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	96					generation of precursor metabolites and energy	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity				0						CCTCAGGGGTGTTCGTAGCCC	0.682		NaN											1	0	2.7689e-08	0.001984	2.90865e-08	5	8				
ARMC5	79798	broad.mit.edu	37	16	31476086	31476086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31476086A>C	uc002ecc.2	+	4	2271	c.1742A>C	c.(1741-1743)GAG>GCG	p.E581A	ARMC5_uc010vfn.1_Missense_Mutation_p.E676A|ARMC5_uc010vfo.1_Missense_Mutation_p.E613A|ARMC5_uc002eca.3_Missense_Mutation_p.E581A|ARMC5_uc010vfp.1_Missense_Mutation_p.E389A|ARMC5_uc002ecb.2_Missense_Mutation_p.E581A	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	581							binding			pancreas(1)	1						GCCTGCCTCGAGGCCTTCGTG	0.716		NaN											0	0	0	0.001168	0	5	13				
CX3CL1	6376	broad.mit.edu	37	16	57416799	57416799	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57416799G>T	uc002eli.2	+	3	1116	c.1049G>T	c.(1048-1050)GGC>GTC	p.G350V		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	350	Helical; (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GCCTTCCTTGGCCTCCTCTTC	0.667		NaN											1	0	0.000132079	0.008871	0.000135122	14	2				
GPR56	9289	broad.mit.edu	37	16	57685294	57685294	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57685294G>T	uc002emb.2	+	4	539	c.247G>T	c.(247-249)GAC>TAC	p.D83Y	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.D83Y|GPR56_uc002emf.2_Missense_Mutation_p.D83Y|GPR56_uc010vhs.1_Missense_Mutation_p.D83Y|GPR56_uc002emd.2_Missense_Mutation_p.D83Y|GPR56_uc002eme.2_Missense_Mutation_p.D83Y|GPR56_uc010vht.1_Missense_Mutation_p.D88Y|GPR56_uc002emg.3_Missense_Mutation_p.D83Y|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	83	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						ATCCTTCCCTGACCCCAGGGG	0.577		NaN											1	0	1.52319e-26	0.00874	1.75813e-26	32	4				
SLC9A5	6553	broad.mit.edu	37	16	67290524	67290524	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67290524C>A	uc002esm.2	+	6	1127	c.1064C>A	c.(1063-1065)TCT>TAT	p.S355Y	SLC9A5_uc010cee.2_Missense_Mutation_p.S60Y|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	355					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGACTCTTCTAAGTGGGCC	0.537		NaN											1	0	5.41189e-41	0.00361	6.37933e-41	56	3				
ACD	65057	broad.mit.edu	37	16	67693135	67693135	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67693135C>T	uc002etq.3	-	6	1085	c.748G>A	c.(748-750)GCA>ACA	p.A250T	ACD_uc002etp.3_Missense_Mutation_p.A247T|ACD_uc002etr.3_Missense_Mutation_p.A247T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	250	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACAGTACCTGCATTGGACGAG	0.532		NaN											0	0	0	0.00361	0	67	4				
NFAT5	10725	broad.mit.edu	37	16	69729203	69729203	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:69729203C>A	uc002exm.1	+	13	5733	c.4525C>A	c.(4525-4527)CAG>AAG	p.Q1509K	NFAT5_uc002exi.2_Missense_Mutation_p.Q1433K|NFAT5_uc002exj.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exk.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exl.1_Missense_Mutation_p.Q1527K|NFAT5_uc002exn.1_Missense_Mutation_p.Q1526K|NFAT5_uc002exo.1_Intron	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1509					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AAACACCAACCAGAACATCGA	0.438		NaN											1	0	1.53716e-24	0.00361	1.77119e-24	45	0				
VAT1L	57687	broad.mit.edu	37	16	77896683	77896683	+	Silent	SNP	C	C	T	rs147711332		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:77896683C>T	uc002ffg.1	+	4	715	c.618C>T	c.(616-618)AAC>AAT	p.N206N		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	206							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						CTGTCCCCAACGTGACTGTCT	0.478		NaN											0	0	0	0.00361	0	54	4				
OR1A2	26189	broad.mit.edu	37	17	3100986	3100986	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3100986C>T	uc002fvd.1	+	1	174	c.174C>T	c.(172-174)CCC>CCT	p.P58P		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TTCACAACCCCATGTATTTTC	0.463		NaN											0	0	0	0.00361	0	112	168				
TRPV1	7442	broad.mit.edu	37	17	3477062	3477062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3477062G>C	uc010vrr.1	-	12	2495	c.1968C>G	c.(1966-1968)TTC>TTG	p.F656L	TRPV1_uc010vro.1_Missense_Mutation_p.F667L|TRPV1_uc010vrp.1_Missense_Mutation_p.F596L|TRPV1_uc010vrq.1_Missense_Mutation_p.F654L|TRPV1_uc010vrs.1_Missense_Mutation_p.F656L|TRPV1_uc010vrt.1_Missense_Mutation_p.F656L|TRPV1_uc010vru.1_Missense_Mutation_p.F656L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	656					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACAGCCTTGAAGTCATAGT	0.527		NaN											0	0	0	0.00623	0	34	50				
ZZEF1	23140	broad.mit.edu	37	17	3919633	3919633	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3919633T>C	uc002fxe.2	-	49	8193	c.8129A>G	c.(8128-8130)AAC>AGC	p.N2710S	ZZEF1_uc002fxg.1_Missense_Mutation_p.N31S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2710							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTTGGTGTTGTTGTTATACGG	0.612		NaN											0	0	0	0.00361	0	37	48				
MINK1	50488	broad.mit.edu	37	17	4797304	4797304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4797304C>T	uc010vsl.1	+	22	2782	c.2586C>T	c.(2584-2586)AGC>AGT	p.S862S	MINK1_uc010vsk.1_Silent_p.S833S|MINK1_uc010vsm.1_Silent_p.S842S|MINK1_uc010vsn.1_Silent_p.S825S|MINK1_uc010vso.1_Silent_p.S770S|MINK1_uc010vsp.1_Silent_p.S323S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	862					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						ATACAGACAGCGTCAGCACCA	0.657		NaN											0	0	0	0.008291	0	6	11				
KIAA0753	9851	broad.mit.edu	37	17	6493200	6493200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6493200C>T	uc002gde.3	-	18	3044	c.2685G>A	c.(2683-2685)ATG>ATA	p.M895I	KIAA0753_uc010vtd.1_Missense_Mutation_p.M351I|KIAA0753_uc010clo.2_Missense_Mutation_p.M596I|KIAA0753_uc010vte.1_Missense_Mutation_p.M596I	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	895						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTGCTGCATACCCGGTG	0.522		NaN											0	0	0	0.009535	0	24	30				
XAF1	54739	broad.mit.edu	37	17	6674105	6674105	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6674105A>T	uc002gdn.2	+	6	893	c.651A>T	c.(649-651)ATA>ATT	p.I217I	XAF1_uc002gdm.1_Silent_p.I157I|XAF1_uc002gdo.2_Silent_p.I198I|XAF1_uc002gdp.2_Silent_p.I166I|XAF1_uc002gdq.2_Silent_p.I49I|XAF1_uc002gdr.2_Silent_p.I147I	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	217					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CAAGAAGTATAAACAGATTTC	0.398		NaN											0	0	0	0.012319	0	18	13				
C17orf74	201243	broad.mit.edu	37	17	7330284	7330284	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7330284C>A	uc002ggw.2	+	3	1047	c.974C>A	c.(973-975)CCT>CAT	p.P325H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	325						integral to membrane					0		Prostate(122;0.157)				GAGCGCCCCCCTGCCTCGGTG	0.697		NaN											1	0	3.01185e-09	0.003954	3.19409e-09	23	12				
CHD3	1107	broad.mit.edu	37	17	7800409	7800409	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7800409C>G	uc002gje.2	+	11	1866	c.1716C>G	c.(1714-1716)ATC>ATG	p.I572M	CHD3_uc002gjd.2_Missense_Mutation_p.I631M|CHD3_uc002gjf.2_Missense_Mutation_p.I572M|CHD3_uc002gjg.1_Missense_Mutation_p.I400M	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	572	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				AGCTGGAAATCTTCCATTTGG	0.532		NaN											0	0	0	0.010729	0	9	43				
COX10	1352	broad.mit.edu	37	17	13977769	13977769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:13977769G>A	uc002gof.3	+	2	377	c.173G>A	c.(172-174)CGC>CAC	p.R58H	COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	58					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTCCTCAAACGCATGGTATGT	0.348		NaN											0	0	0	0.00361	0	77	110				
RAI1	10743	broad.mit.edu	37	17	17697690	17697690	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:17697690T>G	uc002grm.2	+	3	1897	c.1428T>G	c.(1426-1428)CAT>CAG	p.H476Q	RAI1_uc002grn.1_Missense_Mutation_p.H476Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	476						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGAGCAGCATAAAAGCCAGC	0.627		NaN											0	0	0	0.001855	0	9	27				
CCDC144B	284047	broad.mit.edu	37	17	18513402	18513402	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:18513402C>A	uc002gub.1	-	3	704	c.619G>T	c.(619-621)GAC>TAC	p.D207Y	CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D207Y	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2						TGGCACAGGTCATGGAGAGTA	0.433		NaN											1	0	1.61004e-24	0.00361	1.85196e-24	42	95				
MAPK7	5598	broad.mit.edu	37	17	19286175	19286175	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:19286175G>A	uc002gvn.2	+	6	2599	c.2213G>A	c.(2212-2214)GGG>GAG	p.G738E	MAPK7_uc002gvo.2_Missense_Mutation_p.G599E|MAPK7_uc002gvq.2_Missense_Mutation_p.G738E|MAPK7_uc002gvp.2_Missense_Mutation_p.G738E|uc010vyt.1_5'Flank	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	738	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGGCAGTGGGGCTGGCTAC	0.577		NaN											0	0	0	0.00361	0	60	68				
ACACA	31	broad.mit.edu	37	17	35454054	35454054	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:35454054C>G	uc002hnm.2	-	54	6848	c.6657G>C	c.(6655-6657)CTG>CTC	p.L2219L	ACACA_uc002hnk.2_Silent_p.L2141L|ACACA_uc002hnl.2_Silent_p.L2161L|ACACA_uc002hnn.2_Silent_p.L2219L|ACACA_uc002hno.2_Silent_p.L2256L|ACACA_uc010cuy.2_Silent_p.L864L|ACACA_uc010wdb.1_Silent_p.L257L|ACACA_uc010wdc.1_Silent_p.L345L	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2219					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGACGCCTCAGCCGCCAGT	0.488		NaN											0	0	0	0.00278	0	19	11				
KRT222	125113	broad.mit.edu	37	17	38812797	38812797	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:38812797G>C	uc002hvc.2	-	6	810	c.745C>G	c.(745-747)CTT>GTT	p.L249V	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.L209V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	249						intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TCAAATCGAAGAGAAACAGAC	0.363		NaN											0	0	0	0.004656	0	23	34				
KRTAP3-1	83896	broad.mit.edu	37	17	39165064	39165064	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39165064G>A	uc002hvt.1	-	1	303	c.263C>T	c.(262-264)CCT>CTT	p.P88L		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	keratin associated protein 3.1	88						keratin filament	structural molecule activity				0		Breast(137;0.00043)				CTCACAGCCAGGCTGAACATA	0.582		NaN											0	0	0	0.002299	0	19	42				
KRT36	8689	broad.mit.edu	37	17	39646100	39646100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39646100C>T	uc002hwt.2	-	1	17	c.17G>A	c.(16-18)TGC>TAC	p.C6Y		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	6	Head.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				GGTAGGGGTGCAGGTCTGGGT	0.582		NaN											0	0	0	0.006214	0	9	37				
ATP6V0A1	535	broad.mit.edu	37	17	40635081	40635081	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40635081C>A	uc002hzr.2	+	9	909	c.742C>A	c.(742-744)CCT>ACT	p.P248T	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P248T|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P255T|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.P107T	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	248	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTATCCCTGTCCTGAGACACC	0.408		NaN											1	0	3.51602e-12	0.008871	3.82001e-12	16	50				
IMP5	162540	broad.mit.edu	37	17	43922946	43922946	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:43922946G>A	uc010wka.1	+	1	674	c.674G>A	c.(673-675)GGT>GAT	p.G225D	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	225	Cytoplasmic (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGGGGTCTGGTGGTCACCAT	0.652		NaN											0	0	0	0.004482	0	9	12				
MAPT	4137	broad.mit.edu	37	17	44067379	44067379	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:44067379A>G	uc002ijr.3	+	8	1638	c.1318A>G	c.(1318-1320)AAA>GAA	p.K440E	MAPT_uc010dau.2_Missense_Mutation_p.K440E|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	440					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				TTCCTCTCCTAAATACGTCTC	0.537		NaN											0	0	0	0.00361	0	107	117				
KPNB1	3837	broad.mit.edu	37	17	45752045	45752045	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:45752045C>G	uc002ilt.1	+	15	2145	c.1809C>G	c.(1807-1809)ATC>ATG	p.I603M	KPNB1_uc010wkw.1_Missense_Mutation_p.I458M|KPNB1_uc010wkx.1_Missense_Mutation_p.I387M	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	603	HEAT 7.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTTTGCAGATCTCTGATGTGG	0.463		NaN											0	0	0	0.004007	0	13	200				
LPO	4025	broad.mit.edu	37	17	56327830	56327830	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:56327830G>A	uc002ivt.2	+	7	944	c.628G>A	c.(628-630)GAC>AAC	p.D210N	LPO_uc010dco.2_Missense_Mutation_p.D210N|LPO_uc010wnr.1_Missense_Mutation_p.D127N|LPO_uc010wns.1_Missense_Mutation_p.D151N|LPO_uc010dcp.2_Missense_Mutation_p.D127N|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	210					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGGTGTTCTGGACCAAAACAG	0.527		NaN											0	0	0	0.005443	0	24	47				
MRC2	9902	broad.mit.edu	37	17	60755974	60755974	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:60755974A>T	uc002jad.2	+	13	2564	c.2162A>T	c.(2161-2163)CAC>CTC	p.H721L	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	721	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGGAGGAGCACTTTGTGGCC	0.647		NaN											0	0	0	0.010729	0	10	38				
CCDC46	201134	broad.mit.edu	37	17	63848079	63848079	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:63848079T>G	uc002jfl.2	-	21	2456	c.2237A>C	c.(2236-2238)CAG>CCG	p.Q746P	CCDC46_uc010deo.2_Missense_Mutation_p.Q488P|CCDC46_uc002jfm.2_Missense_Mutation_p.Q746P|CCDC46_uc010dep.2_Missense_Mutation_p.Q704P	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	746	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TACCAGCTGCTGTTTCCGCTG	0.403		NaN											0	0	0	0.005524	0	30	15				
KCNJ2	3759	broad.mit.edu	37	17	68171368	68171368	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:68171368A>G	uc010dfg.2	+	2	589	c.188A>G	c.(187-189)GAG>GGG	p.E63G	KCNJ2_uc002jir.2_Missense_Mutation_p.E63G	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	63	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					AATGTGGGTGAGAAGGGGCAA	0.527		NaN											0	0	0	0.004482	0	6	75				
ITGB4	3691	broad.mit.edu	37	17	73746222	73746222	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:73746222T>A	uc002jpg.2	+	28	3534	c.3347T>A	c.(3346-3348)ATG>AAG	p.M1116K	ITGB4_uc002jph.2_Missense_Mutation_p.M1116K|ITGB4_uc002jpi.3_Missense_Mutation_p.M1116K|ITGB4_uc002jpj.2_Missense_Mutation_p.M1116K	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1116	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAGTCAGATGTTGTCATCA	0.632		NaN									OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010504	0	18	78				
DNAH17	8632	broad.mit.edu	37	17	76554223	76554223	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:76554223G>A	uc002jvv.1	-	10	1357	c.1251C>T	c.(1249-1251)GGC>GGT	p.G417G						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTGCCCACAAACT	0.433		NaN											0	0	0	0.008871	0	13	11				
CARD14	79092	broad.mit.edu	37	17	78179329	78179329	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:78179329G>C	uc002jxw.1	+	19	2765	c.2570_splice	c.e19-1	p.E857_splice	CARD14_uc002jxt.1_Splice_Site	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1						activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCACCTGTAGAGTACTTGAG	0.632		NaN											0	0	0	0.009096	0	3	8				
PCYT2	5833	broad.mit.edu	37	17	79866776	79866776	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:79866776T>G	uc002kcf.1	-	3	379	c.316A>C	c.(316-318)AAC>CAC	p.N106H	PCYT2_uc010wva.1_Missense_Mutation_p.N74H|PCYT2_uc010wvb.1_Missense_Mutation_p.N74H|PCYT2_uc002kce.1_Missense_Mutation_p.N28H|PCYT2_uc002kcg.1_Missense_Mutation_p.N117H|PCYT2_uc002kch.1_Missense_Mutation_p.N106H|PCYT2_uc002kci.1_Missense_Mutation_p.N47H|PCYT2_uc010dii.1_Missense_Mutation_p.N106H|PCYT2_uc010wvc.1_Missense_Mutation_p.N28H	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	106	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AAGTCACAGTTGTATTTGTCC	0.587		NaN											0	0	0	0.00632	0	20	44				
TBCD	6904	broad.mit.edu	37	17	80772748	80772748	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:80772748G>T	uc002kfz.2	+	13	1386	c.1256G>T	c.(1255-1257)GGA>GTA	p.G419V	TBCD_uc002kfx.1_Missense_Mutation_p.G402V|TBCD_uc002kfy.1_Missense_Mutation_p.G419V	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	419					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGGCATGGGGGATGTCTGGCG	0.602		NaN											1	0	5.04308e-16	0.00623	5.62595e-16	28	16				
SMCHD1	23347	broad.mit.edu	37	18	2688390	2688390	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:2688390A>G	uc002klm.3	+	6	828	c.639_splice	c.e6-2	p.S213_splice		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible						chromosome organization		ATP binding				0						GTTTTATTTTAGTGATCATTC	0.358		NaN											0	0	0	0.005524	0	30	32				
KIAA0802	23255	broad.mit.edu	37	18	8784103	8784103	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:8784103G>T	uc002knr.2	+	6	1135	c.993G>T	c.(991-993)GGG>GGT	p.G331G	KIAA0802_uc002knq.2_Silent_p.G331G|KIAA0802_uc010dkw.1_Silent_p.G169G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	682	Potential.										0						CCGGGGGTGGGGCCCCCCTGC	0.642		NaN											1	0	3.43241e-23	0.009718	3.93458e-23	36	31				
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:14542642C>G	uc010dln.2	-	1	958	c.504G>C	c.(502-504)AAG>AAC	p.K168N	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	168	ANK 1.									skin(3)	3						GCTTGTCCCTCTTGTTCATGT	0.597		NaN											0	0	0	0.00361	0	102	114				
SS18	6760	broad.mit.edu	37	18	23637560	23637560	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637560C>G	uc002kvm.2	-	4	456	c.378G>C	c.(376-378)CAG>CAC	p.Q126H	SS18_uc002kvn.2_Missense_Mutation_p.Q126H|SS18_uc010xbf.1_Missense_Mutation_p.Q44H|SS18_uc010xbg.1_Missense_Mutation_p.Q74H|SS18_uc010xbh.1_Missense_Mutation_p.Q74H|SS18_uc010xbi.1_Missense_Mutation_p.Q103H|SS18_uc010dlz.1_Missense_Mutation_p.Q74H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	126	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TACCAGGCATCTGGCCGTTCA	0.522		NaN	T	SSX1| SSX2	synovial sarcoma								0	0	0	0.011902	0	34	46				
SS18	6760	broad.mit.edu	37	18	23637569	23637569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637569C>T	uc002kvm.2	-	4	447	c.369G>A	c.(367-369)ATG>ATA	p.M123I	SS18_uc002kvn.2_Missense_Mutation_p.M123I|SS18_uc010xbf.1_Missense_Mutation_p.M41I|SS18_uc010xbg.1_Missense_Mutation_p.M71I|SS18_uc010xbh.1_Missense_Mutation_p.M71I|SS18_uc010xbi.1_Missense_Mutation_p.M100I|SS18_uc010dlz.1_Missense_Mutation_p.M71I	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	123	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCTGGCCGTTCATCTGGTTCT	0.522		NaN	T	SSX1| SSX2	synovial sarcoma								0	0	0	0.00361	0	39	49				
DSG1	1828	broad.mit.edu	37	18	28926104	28926104	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:28926104G>C	uc002kwp.2	+	14	2255	c.2043G>C	c.(2041-2043)ATG>ATC	p.M681I	DSG1_uc010xbp.1_Missense_Mutation_p.M40I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	681	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCTATGAGGGAATGTA	0.418		NaN											0	0	0	0.00361	0	40	44				
C18orf10	25941	broad.mit.edu	37	18	34378506	34378506	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:34378506G>C	uc002kzw.1	-	6	991	c.563C>G	c.(562-564)ACC>AGC	p.T188S	C18orf10_uc002kzv.1_Missense_Mutation_p.T188S|C18orf10_uc010xci.1_Missense_Mutation_p.T153S|C18orf10_uc002kzx.1_Missense_Mutation_p.T145S|C18orf10_uc002kzy.3_Missense_Mutation_p.T188S	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	188						cytoplasm|microtubule				skin(1)	1						GGCAGTAAAGGTGTCTGTGAG	0.493		NaN											0	0	0	0.00361	0	62	62				
RNF165	494470	broad.mit.edu	37	18	44035973	44035973	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:44035973G>A	uc002lcb.1	+	7	904	c.853G>A	c.(853-855)GGG>AGG	p.G285R	RNF165_uc002lby.1_Missense_Mutation_p.G218R|RNF165_uc010dnn.1_Missense_Mutation_p.G81R	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	285							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		GAAGGATGAGGGGGAGGAGTC	0.507		NaN											0	0	0	0.00278	0	17	20				
SERPINB7	8710	broad.mit.edu	37	18	61465923	61465923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:61465923G>C	uc002ljl.2	+	6	636	c.540G>C	c.(538-540)AAG>AAC	p.K180N	SERPINB7_uc002ljm.2_Missense_Mutation_p.K180N|SERPINB7_uc010xet.1_Missense_Mutation_p.K163N|SERPINB7_uc010dqg.2_Missense_Mutation_p.K180N	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	180					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				TCAAAGGCAAGTGGCAATCAG	0.393		NaN											0	0	0	0.010771	0	37	114				
RTTN	25914	broad.mit.edu	37	18	67788894	67788894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:67788894C>T	uc002lkp.2	-	26	3494	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L230L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1142							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TATCTATTAGCAGTTTCTCAT	0.308		NaN											0	0	0	0.004672	0	3	1				
TSHZ1	10194	broad.mit.edu	37	18	72999303	72999303	+	Silent	SNP	G	G	A	rs141313878	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:72999303G>A	uc002lly.2	+	2	2369	c.1806G>A	c.(1804-1806)ACG>ACA	p.T602T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	647						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGGTCACGGGCAAGGTCA	0.602		NaN											0	0	0	0.003954	0	22	18				
ZNF236	7776	broad.mit.edu	37	18	74580691	74580691	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74580691G>A	uc002lmi.2	+	4	606	c.408G>A	c.(406-408)CTG>CTA	p.L136L	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.L136L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	136	C2H2-type 4.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAGTCAGCTGGCCGTGCACA	0.557		NaN											0	0	0	0.00361	0	78	72				
MBP	4155	broad.mit.edu	37	18	74700837	74700837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74700837C>T	uc010xfd.1	-	6	977	c.713G>A	c.(712-714)GGA>GAA	p.G238E	MBP_uc002lml.2_Missense_Mutation_p.G131E|MBP_uc002lmn.2_Missense_Mutation_p.G131E|MBP_uc002lmp.2_Missense_Mutation_p.G105E|MBP_uc010xfe.1_Missense_Mutation_p.G105E|MBP_uc010dqz.2_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	238					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TCTTACCTTTCCCTGCGACGG	0.522		NaN											0	0	0	0.00361	0	82	104				
PRSSL1	400668	broad.mit.edu	37	19	691938	691938	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:691938G>T	uc002lpl.1	-	3	332	c.301C>A	c.(301-303)CAG>AAG	p.Q101K	PRSSL1_uc010xfs.1_Missense_Mutation_p.Q100K	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	101	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAACACCTGCTGGGTGGGC	0.672		NaN											1	0	6.94344e-10	0.006122	7.41079e-10	16	23				
DOT1L	84444	broad.mit.edu	37	19	2216762	2216762	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:2216762G>A	uc002lvb.3	+	20	2442	c.2406G>A	c.(2404-2406)TCG>TCA	p.S802S	DOT1L_uc002lvc.1_Silent_p.S96S|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S96S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	802						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCATTCGAGGTGAGTGC	0.652		NaN											0	0	0	0.008361	0	23	96				
CREB3L3	84699	broad.mit.edu	37	19	4168393	4168393	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4168393A>G	uc002lzl.2	+	6	876	c.760A>G	c.(760-762)AAG>GAG	p.K254E	CREB3L3_uc002lzm.2_Missense_Mutation_p.K244E|CREB3L3_uc010xib.1_Missense_Mutation_p.K243E|CREB3L3_uc010xic.1_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	254	Basic motif.|Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCCGGAACAAGCAGTCGGC	0.413		NaN											0	0	0	0.010504	0	19	16				
SH3GL1	6455	broad.mit.edu	37	19	4361711	4361711	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4361711G>A	uc002maj.2	-	10	1099	c.993C>T	c.(991-993)GAC>GAT	p.D331D	SH3GL1_uc002mak.2_Silent_p.D267D|SH3GL1_uc010xig.1_Silent_p.D283D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	331	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCGTGATGACGTCGCCCTCAT	0.662		NaN	T	MLL	AL								0	0	0	0.008291	0	6	120				
PLIN4	729359	broad.mit.edu	37	19	4504533	4504533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4504533G>A	uc002mar.1	-	6	4012	c.4012C>T	c.(4012-4014)CAG>TAG	p.Q1338*	PLIN4_uc010dub.1_Nonsense_Mutation_p.Q362*	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1338						lipid particle|plasma membrane					0						GGATTGTGCTGTAGGCCCTCC	0.701		NaN											0	0	0	0.010818	0	22	5				
DENND1C	79958	broad.mit.edu	37	19	6479898	6479898	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6479898C>A	uc002mfe.2	-	3	190	c.98G>T	c.(97-99)CGG>CTG	p.R33L	DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	33	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						AGGGAACTGCCGCAGGATGGG	0.642		NaN											1	0	0.00448238	0.004482	0.00456463	6	4				
TUBB4	10382	broad.mit.edu	37	19	6501571	6501571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6501571C>T	uc002mfg.1	-	2	228	c.121G>A	c.(121-123)GAC>AAC	p.D41N	TUBB4_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	41					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		AGTTGCAGGTCACTGTCCCCA	0.572		NaN											0	0	0	0.00361	0	127	36				
ARHGEF18	23370	broad.mit.edu	37	19	7518383	7518383	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7518383A>T	uc002mgi.2	+	7	1575	c.1322A>T	c.(1321-1323)CAG>CTG	p.Q441L	ARHGEF18_uc010xjm.1_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgh.2_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgj.1_Missense_Mutation_p.Q84L	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	441	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GACCTGACCCAGGCCTTGAAC	0.507		NaN											0	0	0	0.004656	0	21	88				
CD209	30835	broad.mit.edu	37	19	7810492	7810492	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810492G>A	uc002mht.2	-	4	727	c.660C>T	c.(658-660)ACC>ACT	p.T220T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T196T|CD209_uc002mhr.2_Silent_p.T196T|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T220T|CD209_uc002mhq.2_Silent_p.T220T|CD209_uc002mhv.2_Silent_p.T196T|CD209_uc002mhx.2_Silent_p.T176T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	220	Extracellular (Probable).|6.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CCTTCAGCCGGGTCAGCTCCT	0.567		NaN											0	0	0	0.001168	0	4	108				
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810561G>A	uc002mht.2	-	4	658	c.591C>T	c.(589-591)ACC>ACT	p.T197T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	197	Extracellular (Probable).|5.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						CCTTCAGCCGGGTCAGCTCCT	0.567		NaN											0	0	0	0.00308	0	5	107				
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810766C>T	uc002mht.2	-	4	453	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	129	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGCCTTCAGCCGGGTCAGCTC	0.567		NaN											0	0	0	0.006214	0	7	214				
FBN3	84467	broad.mit.edu	37	19	8182137	8182137	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8182137C>T	uc002mjf.2	-	27	3523	c.3502G>A	c.(3502-3504)GTG>ATG	p.V1168M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1168	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						ATACAGTGCACGTCACACCCA	0.473		NaN											0	0	0	0.009718	0	31	148				
ZNF558	148156	broad.mit.edu	37	19	8922561	8922561	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8922561T>G	uc002mkn.1	-	6	835	c.605A>C	c.(604-606)CAT>CCT	p.H202P	ZNF558_uc010xkh.1_Missense_Mutation_p.H131P|ZNF558_uc010dwg.1_Missense_Mutation_p.H202P	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	202	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CTCCCCATTATGGATTCTCTT	0.413		NaN											0	0	0	0.006122	0	14	63				
MUC16	94025	broad.mit.edu	37	19	8969284	8969284	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8969284C>G	uc002mkp.2	-	79	43264	c.43060G>C	c.(43060-43062)GAG>CAG	p.E14354Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E1154Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACCGCATCCTCAATATTCCTT	0.463		NaN											0	0	0	0.00361	0	46	222				
MUC16	94025	broad.mit.edu	37	19	9058783	9058783	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9058783T>C	uc002mkp.2	-	3	28867	c.28663A>G	c.(28663-28665)ATA>GTA	p.I9555V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9557	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGTCTCTTATAGAGGAAGAG	0.488		NaN											0	0	0	0.00361	0	39	8				
MUC16	94025	broad.mit.edu	37	19	9065491	9065491	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9065491C>G	uc002mkp.2	-	3	22159	c.21955G>C	c.(21955-21957)GCA>CCA	p.A7319P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7321	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGATTCTGCCAGGATGGGG	0.453		NaN											0	0	0	0.002836	0	30	10				
MUC16	94025	broad.mit.edu	37	19	9086871	9086871	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9086871G>T	uc002mkp.2	-	1	5148	c.4944C>A	c.(4942-4944)GCC>GCA	p.A1648A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1648	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGAAGGTGGGCTATGCCCA	0.517		NaN											1	0	3.47496e-60	0.00361	4.12536e-60	118	34				
COL5A3	50509	broad.mit.edu	37	19	10084485	10084485	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10084485C>T	uc002mmq.1	-	49	3645	c.3559G>A	c.(3559-3561)GGC>AGC	p.G1187S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1187	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCTGGAGTGCCCTGGAGAGAC	0.592		NaN											0	0	0	0.00361	0	93	39				
COL5A3	50509	broad.mit.edu	37	19	10116261	10116261	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10116261G>A	uc002mmq.1	-	4	653	c.567C>T	c.(565-567)ACC>ACT	p.T189T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	189	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CAAGGTCCTGGGTCCCCAGCA	0.562		NaN											0	0	0	0.001168	0	3	71				
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225253	10225253	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10225253A>G	uc002mna.2	+	13	2224	c.2224A>G	c.(2224-2226)ATG>GTG	p.M742V	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.M322V	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCTACTCTACATGGCCGCAGT	0.682		NaN											0	0	0	0.004656	0	21	89				
PRKCSH	5589	broad.mit.edu	37	19	11558507	11558507	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:11558507G>A	uc002mrt.2	+	12	1345	c.1009_splice	c.e12-1	p.E337_splice	PRKCSH_uc002mru.2_Intron|PRKCSH_uc010xlz.1_Splice_Site_p.E344_splice|PRKCSH_uc010dya.2_Splice_Site_p.E119_splice|PRKCSH_uc010dyb.2_Intron	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1						innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CCCTGCCCCAGGAGGCCCCAC	0.667		NaN											0	0	0	0.006214	0	7	4				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12155673A>C	uc002mta.1	-	5	684	c.684T>G	c.(682-684)AGT>AGG	p.S228R		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	181	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACTGGGAAAACTGAATGCTT	0.403		NaN											0	0	0	0.00308	0	8	179				
MAST1	22983	broad.mit.edu	37	19	12984213	12984213	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12984213G>T	uc002mvm.2	+	25	3467	c.3339G>T	c.(3337-3339)TCG>TCT	p.S1113S		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1113					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CGCTGTCGTCGCTGAACCGCT	0.667		NaN											1	0	1.55795e-14	0.012319	1.72072e-14	17	14				
FARSA	2193	broad.mit.edu	37	19	13039382	13039382	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13039382C>A	uc002mvs.2	-	6	740	c.692G>T	c.(691-693)CGC>CTC	p.R231L	FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Missense_Mutation_p.R200L|FARSA_uc010dyy.1_Missense_Mutation_p.R152L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	231					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	GAACTGGGAGCGGACCTTGAG	0.657		NaN											1	0	5.60225e-13	0.009535	6.1266e-13	25	13				
NFIX	4784	broad.mit.edu	37	19	13201190	13201190	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13201190C>A	uc010xmx.1	+	10	1557	c.1504C>A	c.(1504-1506)CCA>ACA	p.P502T	NFIX_uc002mwd.2_3'UTR|NFIX_uc002mwe.2_3'UTR|NFIX_uc002mwf.2_3'UTR|NFIX_uc002mwg.1_3'UTR			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	494					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCTGAACATCCCACAGCAGTC	0.622		NaN											1	0	2.21704e-12	0.00278	2.41266e-12	17	59				
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13325352G>T	uc010dze.2	-	39	6041	c.5805C>A	c.(5803-5805)TCC>TCA	p.S1935S	CACNA1A_uc010xnd.1_Silent_p.S640S|CACNA1A_uc002mwx.3_Silent_p.S640S|CACNA1A_uc010dzc.2_Silent_p.S1460S|CACNA1A_uc002mwy.3_Silent_p.S1934S|CACNA1A_uc002mwv.3_Silent_p.S451S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1935	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTCTTCTGGGACAGATTGG	0.582		NaN											1	0	7.41945e-09	0.005443	7.8186e-09	19	13				
LPHN1	22859	broad.mit.edu	37	19	14263685	14263685	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14263685A>T	uc010xnn.1	-	20	3645	c.3349T>A	c.(3349-3351)TGC>AGC	p.C1117S	LPHN1_uc010xno.1_Missense_Mutation_p.C1112S|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1117	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CGGATGCAGCAGTAGGAGTGA	0.627		NaN											0	0	0	0.00361	0	41	109				
TECR	9524	broad.mit.edu	37	19	14640523	14640523	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14640523G>A	uc002mza.2	+	1	142	c.15G>A	c.(13-15)GAG>GAA	p.E5E	DNAJB1_uc010xnr.1_5'Flank|TECR_uc002mzb.2_5'UTR|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Silent_p.E5E	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	5					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						AGCATTACGAGGTAAGAAGCG	0.622		NaN											0	0	0	0.004482	0	5	36				
MYO9B	4650	broad.mit.edu	37	19	17312810	17312810	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:17312810A>T	uc010eak.2	+	27	4791	c.4639A>T	c.(4639-4641)ATC>TTC	p.I1547F	MYO9B_uc002nfi.2_Missense_Mutation_p.I1547F|MYO9B_uc002nfj.1_Missense_Mutation_p.I1547F|MYO9B_uc002nfl.1_Missense_Mutation_p.I96F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1547	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CAGGAGCAACATCAAAACGAT	0.567		NaN											0	0	0	0.003163	0	11	7				
ATP13A1	57130	broad.mit.edu	37	19	19756542	19756542	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:19756542C>G	uc002nnh.3	-	25	3446	c.3418G>C	c.(3418-3420)GTT>CTT	p.V1140L	GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.V280L|ATP13A1_uc002nnf.3_Missense_Mutation_p.V508L|ATP13A1_uc002nng.2_Missense_Mutation_p.V1022L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1140	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						AGGAGTGAAACTGCCAGACTC	0.637		NaN											0	0	0	0.004672	0	2	2				
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:20808090C>T	uc002npb.1	-	4	743	c.593G>A	c.(592-594)GGG>GAG	p.G198E	ZNF626_uc002npc.1_Missense_Mutation_p.G122E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTAGGGTTTCCCTCCAGTATG	0.363		NaN											0	0	0	0.004672	0	3	15				
ZNF493	284443	broad.mit.edu	37	19	21606522	21606522	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:21606522A>G	uc002npx.2	+	2	957	c.677A>G	c.(676-678)TAT>TGT	p.Y226C	ZNF493_uc002npw.2_Missense_Mutation_p.Y354C|ZNF493_uc002npy.2_Missense_Mutation_p.Y226C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	226	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGAAGAATATTGCAAAGCT	0.358		NaN											0	0	0	0.004672	0	3	41				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:22155896A>C	uc002nqp.2	-	5	1789	c.1640T>G	c.(1639-1641)ATT>AGT	p.I547S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398		NaN											0	0	0	0.001168	0	3	63				
ZNF507	22847	broad.mit.edu	37	19	32845599	32845599	+	Missense_Mutation	SNP	C	C	G	rs139741881	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:32845599C>G	uc002nte.2	+	3	2135	c.1863C>G	c.(1861-1863)AGC>AGG	p.S621R	ZNF507_uc002ntc.2_Missense_Mutation_p.S621R|ZNF507_uc010xrn.1_Missense_Mutation_p.S621R|ZNF507_uc002ntd.2_Missense_Mutation_p.S621R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					AACCCAACAGCGATACAAGTT	0.488		NaN											0	0	0	0.004007	0	12	165				
ZFP14	57677	broad.mit.edu	37	19	36831467	36831467	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:36831467C>T	uc002odx.1	-	4	1354	c.1261G>A	c.(1261-1263)GAG>AAG	p.E421K	ZFP14_uc010xtd.1_Missense_Mutation_p.E422K|ZFP14_uc010eex.1_Missense_Mutation_p.E421K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					TAGGGTCTCTCACCAATATGA	0.403		NaN											0	0	0	0.009535	0	27	105				
FCGBP	8857	broad.mit.edu	37	19	40354440	40354440	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:40354440C>T	uc002omp.3	-	35	16037	c.16029G>A	c.(16027-16029)AAG>AAA	p.K5343K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5343	VWFD 13.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCCCTGCCTTCTGGCGGA	0.572		NaN											0	0	0	0.004656	0	19	1				
LTBP4	8425	broad.mit.edu	37	19	41115484	41115484	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:41115484G>A	uc002ooh.1	+	13	1676	c.1676G>A	c.(1675-1677)GGA>GAA	p.G559E	LTBP4_uc002oog.1_Missense_Mutation_p.G522E|LTBP4_uc002ooi.1_Missense_Mutation_p.G492E|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	559	Pro-rich.|EGF-like 3.|Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCGGCCCAGGACGCTGCATT	0.667		NaN											0	0	0	0.00361	0	48	2				
CEACAM21	90273	broad.mit.edu	37	19	42092192	42092192	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:42092192G>A	uc002ore.3	+	6	947	c.851_splice	c.e6-1	p.G284_splice	CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.3_Splice_Site_p.G283_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion							integral to membrane				ovary(1)	1						TCTGTCCCCAGGCCATGGACC	0.587		NaN											0	0	0	0.010504	0	15	1				
PRKD2	25865	broad.mit.edu	37	19	47178362	47178362	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:47178362G>C	uc002pfh.2	-	18	2694	c.2352C>G	c.(2350-2352)ATC>ATG	p.I784M	PRKD2_uc002pfd.2_Missense_Mutation_p.I158M|PRKD2_uc010eks.2_Missense_Mutation_p.I187M|PRKD2_uc010ekt.2_Missense_Mutation_p.I51M|PRKD2_uc002pfe.2_Missense_Mutation_p.I314M|PRKD2_uc002pff.2_Missense_Mutation_p.I304M|PRKD2_uc002pfg.2_Missense_Mutation_p.I627M|PRKD2_uc002pfi.2_Missense_Mutation_p.I784M|PRKD2_uc002pfj.2_Missense_Mutation_p.I784M|PRKD2_uc010xye.1_Missense_Mutation_p.I794M|PRKD2_uc002pfk.2_Missense_Mutation_p.I627M	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	784	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGGTTGTTGATGAGGTCAA	0.572		NaN											0	0	0	0.003163	0	13	0				
IL4I1	259307	broad.mit.edu	37	19	50393824	50393824	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:50393824C>A	uc002pqt.1	-	8	885	c.807G>T	c.(805-807)CTG>CTT	p.L269L	IL4I1_uc002pqv.1_Silent_p.L278L|IL4I1_uc010eno.1_Silent_p.L277L|IL4I1_uc002pqw.1_Silent_p.L277L|IL4I1_uc002pqu.1_Silent_p.L291L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	269						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCGCGCGCGGCAGCAGGTCCC	0.721		NaN											1	0	9.95505e-16	0.002299	1.10686e-15	14	1				
SYT3	84258	broad.mit.edu	37	19	51140567	51140567	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51140567C>T	uc002pst.2	-	1	736	c.102G>A	c.(100-102)CAG>CAA	p.Q34Q	SYT3_uc002psv.2_Silent_p.Q34Q|SYT3_uc010ycd.1_Silent_p.Q34Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	34	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CATTGAACTCCTGGCACCTGT	0.627		NaN											0	0	0	0.00361	0	130	3				
SHANK1	50944	broad.mit.edu	37	19	51205873	51205873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51205873C>T	uc002psx.1	-	11	1617	c.1598G>A	c.(1597-1599)GGC>GAC	p.G533D		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	533					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCCTGAGCCCCCCGTGCC	0.716		NaN											0	0	0	0.004482	0	6	0				
ACPT	93650	broad.mit.edu	37	19	51298162	51298162	+	Missense_Mutation	SNP	C	C	T	rs140557537	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51298162C>T	uc002pta.1	+	10	1106	c.1106C>T	c.(1105-1107)GCC>GTC	p.A369V		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	369	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCCCCGGCCCGGCCTCCC	0.692		NaN											0	0	0	0.00361	0	241	3				
ZNF528	84436	broad.mit.edu	37	19	52918824	52918824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:52918824C>T	uc002pzh.2	+	7	1145	c.719C>T	c.(718-720)CCT>CTT	p.P240L	ZNF528_uc002pzi.2_Missense_Mutation_p.P7L	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAGAAGCCTTACAAATGT	0.388		NaN											0	0	0	0.010729	0	9	55				
ZNF578	147660	broad.mit.edu	37	19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014565G>A	uc002pzp.3	+	6	1175	c.931G>A	c.(931-933)GGT>AGT	p.G311S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418		NaN											0	0	0	0.004672	0	3	126				
ZNF578	147660	broad.mit.edu	37	19	53014626	53014626	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014626C>G	uc002pzp.3	+	6	1236	c.992C>G	c.(991-993)ACA>AGA	p.T331R		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	106	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTACATGCCATCAT	0.423		NaN											0	0	0	0.009096	0	3	132				
ZNF808	388558	broad.mit.edu	37	19	53057047	53057047	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53057047G>C	uc010epq.1	+	5	1055	c.878G>C	c.(877-879)GGA>GCA	p.G293A	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	293	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAAGAGTGTGGAAAGTCCTTC	0.408		NaN											0	0	0	0.001168	0	4	180				
VN1R4	317703	broad.mit.edu	37	19	53770252	53770252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53770252G>T	uc010ydu.1	-	1	667	c.667C>A	c.(667-669)CCC>ACC	p.P223T		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	223	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTG	0.537		NaN								HNSCC(26;0.072)			1	0	7.92952e-12	0.003954	8.58709e-12	21	2				
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	Missense_Mutation	SNP	A	A	G	rs147132093		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53958879A>G	uc010eqp.2	+	7	1576	c.1118A>G	c.(1117-1119)CAT>CGT	p.H373R	ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	373	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428		NaN											0	0	0	0.001368	0	10	288				
LILRA4	23547	broad.mit.edu	37	19	54848849	54848849	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:54848849C>T	uc002qfj.2	-	5	831	c.774G>A	c.(772-774)GAG>GAA	p.E258E	LILRA4_uc002qfi.2_Silent_p.E192E	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	258	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATCGGCCCCCTCCTTGTACA	0.677		NaN											0	0	0	0.00623	0	34	1				
PTPRH	5794	broad.mit.edu	37	19	55718252	55718252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:55718252G>T	uc002qjq.2	-	3	230	c.157C>A	c.(157-159)CCC>ACC	p.P53T	PTPRH_uc010esv.2_Missense_Mutation_p.P53T|PTPRH_uc002qjs.2_Missense_Mutation_p.P60T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	53	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGCCATCGGGGACCTCCCAG	0.567		NaN											1	0	5.12918e-33	0.00361	6.02475e-33	53	2				
ZNF776	284309	broad.mit.edu	37	19	58265844	58265844	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265844A>G	uc002qpx.2	+	3	1569	c.1346A>G	c.(1345-1347)CAA>CGA	p.Q449R	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Q449R	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	449	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGTCTCATTCAACATCAGCAG	0.448		NaN											0	0	0	0.000602	0	4	133				
ZNF776	284309	broad.mit.edu	37	19	58265857	58265857	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58265857C>T	uc002qpx.2	+	3	1582	c.1359C>T	c.(1357-1359)ATC>ATT	p.I453I	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I453I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATCCACTCTGGAG	0.453		NaN											0	0	0	0.000602	0	4	121				
ROCK2	9475	broad.mit.edu	37	2	11333916	11333916	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:11333916T>C	uc002rbd.1	-	30	4125	c.3676A>G	c.(3676-3678)AGG>GGG	p.R1226G		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1226	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGAATATCCTTGGAATTTCT	0.299		NaN											0	0	0	0.00333	0	15	30				
ITSN2	50618	broad.mit.edu	37	2	24535214	24535214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:24535214C>G	uc002rfe.2	-	5	477	c.219G>C	c.(217-219)AAG>AAC	p.K73N	ITSN2_uc002rff.2_Missense_Mutation_p.K73N|ITSN2_uc002rfg.2_Missense_Mutation_p.K73N|ITSN2_uc010eyd.2_Missense_Mutation_p.K73N	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	73	EH 1.|Potential.|EF-hand 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGATCCATCTTCCCATCCT	0.453		NaN											0	0	0	0.00361	0	35	137				
EPT1	85465	broad.mit.edu	37	2	26587758	26587758	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:26587758T>A	uc010ykz.1	+	3	332	c.185T>A	c.(184-186)GTA>GAA	p.V62E	EPT1_uc010eyl.1_RNA	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	62	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0						CTGCTGGTCGTATTCAATTTT	0.303		NaN											0	0	0	0.00623	0	26	17				
CAD	790	broad.mit.edu	37	2	27448663	27448663	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27448663A>G	uc002rji.2	+	12	1873	c.1711A>G	c.(1711-1713)AGG>GGG	p.R571G	CAD_uc010eyw.2_Missense_Mutation_p.R571G	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	571	CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCCTCTAACAGGGAGGAGCT	0.597		NaN											0	0	0	0.00361	0	42	18				
SLC30A3	7781	broad.mit.edu	37	2	27480167	27480167	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27480167C>T	uc002rjk.2	-	5	818	c.632G>A	c.(631-633)GGA>GAA	p.G211E	SLC30A3_uc002rjj.2_Missense_Mutation_p.E57K|SLC30A3_uc010ylh.1_Missense_Mutation_p.G206E	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	211	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACTCTGCTCCCCTAGACCC	0.677		NaN											0	0	0	0.001168	0	4	11				
ZNF512	84450	broad.mit.edu	37	2	27821096	27821096	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27821096G>A	uc002rla.2	+	3	339	c.252G>A	c.(250-252)AAG>AAA	p.K84K	ZNF512_uc010ylv.1_Silent_p.K5K|ZNF512_uc010ylw.1_Silent_p.K83K|ZNF512_uc002rlb.2_Silent_p.K5K|ZNF512_uc010ylx.1_Silent_p.K5K|ZNF512_uc002rlc.2_Silent_p.K5K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.K5K	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAAGAATCAAGCCAGCTGCTA	0.408		NaN											0	0	0	0.002299	0	16	68				
LTBP1	4052	broad.mit.edu	37	2	33589420	33589420	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:33589420A>G	uc002ros.2	+	30	4540	c.4540A>G	c.(4540-4542)AAC>GAC	p.N1514D	LTBP1_uc002rot.2_Missense_Mutation_p.N1188D|LTBP1_uc002rou.2_Missense_Mutation_p.N1187D|LTBP1_uc002rov.2_Missense_Mutation_p.N1134D|LTBP1_uc010ymz.1_Missense_Mutation_p.N1145D|LTBP1_uc010yna.1_Missense_Mutation_p.N1092D|LTBP1_uc010ynb.1_Missense_Mutation_p.N411D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1513					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCTGAGTCAAACGGTATGTT	0.398		NaN											0	0	0	0.00499	0	14	7				
EML4	27436	broad.mit.edu	37	2	42552634	42552634	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:42552634G>C	uc002rsi.2	+	20	2444	c.2182G>C	c.(2182-2184)GAC>CAC	p.D728H	EML4_uc010fap.2_Missense_Mutation_p.D670H|EML4_uc002rsj.2_Missense_Mutation_p.D417H|EML4_uc010faq.2_Missense_Mutation_p.D73H|EML4_uc010ynv.1_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	728	WD 8.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						CACACACCTTGACTGGTCCCC	0.313		NaN	T	ALK	NSCLC								0	0	0	0.000602	0	3	10				
C2orf63	130162	broad.mit.edu	37	2	55444968	55444968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:55444968C>G	uc002ryi.2	-	4	690	c.344G>C	c.(343-345)AGA>ACA	p.R115T	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_5'UTR	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	115							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			TTGGATTGTTCTTTTCCTGTA	0.358		NaN											0	0	0	0.001168	0	4	15				
USP34	9736	broad.mit.edu	37	2	61416073	61416073	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:61416073C>T	uc002sbe.2	-	79	10027	c.10005G>A	c.(10003-10005)GAG>GAA	p.E3335E	USP34_uc002sbd.2_Silent_p.E137E	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3335					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGGCTTCTTGCTCTTGGAGTG	0.413		NaN											0	0	0	0.012213	0	28	21				
ATP6V1B1	525	broad.mit.edu	37	2	71191936	71191936	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:71191936C>A	uc002shj.2	+	13	1406	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.S423Y|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.S398Y	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	440					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GCGCTCACCTCTGAGGACCTG	0.597		NaN									OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.16721e-17	0.010818	9.15717e-17	25	24				
LRRTM4	80059	broad.mit.edu	37	2	77745525	77745525	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77745525A>T	uc002snr.2	-	3	1885	c.1470T>A	c.(1468-1470)CCT>CCA	p.P490P	LRRTM4_uc002snq.2_Silent_p.P490P|LRRTM4_uc002sns.2_Silent_p.P490P|LRRTM4_uc002snt.2_Silent_p.P491P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	490	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CAGAGTTTGTAGGCTTGTAGT	0.468		NaN											0	0	0	0.003755	0	27	15				
LRRTM4	80059	broad.mit.edu	37	2	77746266	77746266	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77746266G>A	uc002snr.2	-	3	1144	c.729C>T	c.(727-729)TCC>TCT	p.S243S	LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	243	LRR 8.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CTTGGCTAATGGAGCGAATCC	0.448		NaN											0	0	0	0.004007	0	14	25				
SMYD1	150572	broad.mit.edu	37	2	88405960	88405960	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:88405960C>A	uc002ssr.2	+	8	1100	c.1098C>A	c.(1096-1098)GCC>GCA	p.A366A	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.A62A	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ACCTCCAGGCCTTTGAGGAGG	0.522		NaN											1	0	8.16721e-17	0.010818	9.15717e-17	26	39				
CNGA3	1261	broad.mit.edu	37	2	98996644	98996644	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:98996644G>A	uc002syt.2	+	4	639	c.222G>A	c.(220-222)TCG>TCA	p.S74S	CNGA3_uc002syu.2_Silent_p.S74S|CNGA3_uc010fij.2_Silent_p.S78S	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	74					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CCAGGCTGTCGCGCCTCATCT	0.527		NaN											0	0	0	0.010504	0	14	20				
BUB1	699	broad.mit.edu	37	2	111423892	111423892	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:111423892T>G	uc002tgc.2	-	9	1017	c.905A>C	c.(904-906)CAG>CCG	p.Q302P	BUB1_uc010yxh.1_Missense_Mutation_p.Q282P|BUB1_uc010fkb.2_Missense_Mutation_p.Q302P|BUB1_uc002tgd.2_Missense_Mutation_p.Q302P	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	302					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTCCACCACCTGATGCAACTT	0.443		NaN											0	0	0	0.008871	0	18	19				
SLC20A1	6574	broad.mit.edu	37	2	113420544	113420544	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:113420544C>G	uc002tib.2	+	11	2428	c.1982C>G	c.(1981-1983)TCT>TGT	p.S661C		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	661	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						GTCCCCATTTCTGGAGTTATC	0.458		NaN											0	0	0	0.00361	0	73	59				
PTPN4	5775	broad.mit.edu	37	2	120639722	120639722	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:120639722C>G	uc002tmf.1	+	7	1234	c.463C>G	c.(463-465)CAG>GAG	p.Q155E	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	155	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	ATTTGCTGTTCAGTGTAAGTA	0.358		NaN											0	0	0	0.00361	0	58	44				
GLI2	2736	broad.mit.edu	37	2	121747231	121747231	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:121747231T>C	uc010flp.2	+	13	3771	c.3741T>C	c.(3739-3741)TAT>TAC	p.Y1247Y	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.Y919Y|GLI2_uc002tmu.3_Silent_p.Y902Y	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1247					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ATGCCTGCTATGGCCAAGTCC	0.622		NaN											0	0	0	0.010771	0	37	24				
POTEF	728378	broad.mit.edu	37	2	130872849	130872849	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:130872849G>A	uc010fmh.2	-	4	974	c.574C>T	c.(574-576)CTG>TTG	p.L192L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	192	ANK 1.					cell cortex	ATP binding			skin(3)|ovary(2)	5						CTGTCCAGCAGGAGTTTTACT	0.428		NaN											0	0	0	0.00361	0	26	81				
RIF1	55183	broad.mit.edu	37	2	152330584	152330584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:152330584C>G	uc002txm.2	+	35	7332	c.7202C>G	c.(7201-7203)TCA>TGA	p.S2401*	RIF1_uc002txl.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txn.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txo.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2401	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGACTTGTCTCAGGTATATTT	0.299		NaN											0	0	0	0.007835	0	32	26				
BAZ2B	29994	broad.mit.edu	37	2	160252303	160252303	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:160252303T>C	uc002uao.2	-	20	3404	c.3052A>G	c.(3052-3054)ATG>GTG	p.M1018V	BAZ2B_uc002uap.2_Missense_Mutation_p.M982V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1018	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CGAGCTTCCATAGCTTTCATA	0.338		NaN											0	0	0	0.00308	0	5	12				
FAP	2191	broad.mit.edu	37	2	163051256	163051256	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163051256G>A	uc002ucd.2	-	17	1613	c.1405C>T	c.(1405-1407)CCA>TCA	p.P469S	FAP_uc010fpc.2_Missense_Mutation_p.P18S|FAP_uc010zct.1_Missense_Mutation_p.P444S|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	469	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						GGGATGCCTGGGCCTGTGGGC	0.438		NaN											0	0	0	0.007413	0	14	49				
GCA	25801	broad.mit.edu	37	2	163213345	163213345	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163213345C>T	uc002ucg.2	+	5	560	c.384C>T	c.(382-384)TTC>TTT	p.F128F	GCA_uc010zcu.1_Silent_p.F109F	NM_012198	NP_036330	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	128	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity				0						AGGAAAACTTCATGACTGTTG	0.368		NaN											0	0	0	0.00361	0	46	22				
SCN2A	6326	broad.mit.edu	37	2	166245291	166245291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166245291G>C	uc002udc.2	+	27	5265	c.4975G>C	c.(4975-4977)GCG>CCG	p.A1659P	SCN2A_uc002udd.2_Missense_Mutation_p.A1659P|SCN2A_uc002ude.2_Missense_Mutation_p.A1659P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1659	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GTCCCTTCCTGCGTTGTTTAA	0.498		NaN											0	0	0	0.001855	0	13	94				
SCN2A	6326	broad.mit.edu	37	2	166246148	166246148	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166246148C>A	uc002udc.2	+	27	6122	c.5832C>A	c.(5830-5832)CCC>CCA	p.P1944P	SCN2A_uc002udd.2_Silent_p.P1944P|SCN2A_uc002ude.2_Silent_p.P1944P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1944					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATGGAACACCCATCAAAGAAG	0.403		NaN											1	0	5.2432e-18	0.00361	5.9186e-18	35	13				
SCN1A	6323	broad.mit.edu	37	2	166859238	166859238	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166859238G>T	uc010zcz.1	-	21	4013	c.3995C>A	c.(3994-3996)GCA>GAA	p.A1332E	SCN1A_uc002udo.3_Missense_Mutation_p.A1212E|SCN1A_uc010fpk.2_Missense_Mutation_p.A1184E	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1343	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGGAATTGCTCCTAAAAG	0.348		NaN											1	0	5.73237e-09	0.00623	6.05993e-09	28	14				
STK39	27347	broad.mit.edu	37	2	169020276	169020276	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:169020276T>C	uc002uea.2	-	4	705	c.545A>G	c.(544-546)TAT>TGT	p.Y182C		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	182	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						TCTGTGTAGATAGTCTAAGCC	0.378		NaN											0	0	0	0.009096	0	4	35				
LRP2	4036	broad.mit.edu	37	2	170060728	170060728	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:170060728T>A	uc002ues.2	-	42	7982	c.7769A>T	c.(7768-7770)AAT>ATT	p.N2590I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2590	LDL-receptor class B 28.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACGGCTGCATTGACAATGAC	0.418		NaN											0	0	0	0.00361	0	167	101				
PDE11A	50940	broad.mit.edu	37	2	178684974	178684974	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:178684974T>C	uc002ulq.2	-	7	1867	c.1549A>G	c.(1549-1551)ATT>GTT	p.I517V	PDE11A_uc002ulp.2_Missense_Mutation_p.I73V|PDE11A_uc002ulr.2_Missense_Mutation_p.I267V|PDE11A_uc002uls.1_Missense_Mutation_p.I159V|PDE11A_uc002ult.1_Missense_Mutation_p.I267V|PDE11A_uc002ulu.1_Missense_Mutation_p.I159V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	517	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTATTCCAAATAGGGACACAA	0.294		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.010771	0	29	16				
TTN	7273	broad.mit.edu	37	2	179396043	179396043	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179396043G>A	uc010zfg.1	-	307	97819	c.97595C>T	c.(97594-97596)GCA>GTA	p.A32532V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26227V|TTN_uc010zfi.1_Missense_Mutation_p.A26160V|TTN_uc010zfj.1_Missense_Mutation_p.A26035V|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33459							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGCAGATGCAGAGTGTTC	0.408		NaN											0	0	0	0.004878	0	32	10				
TTN	7273	broad.mit.edu	37	2	179428076	179428076	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179428076T>A	uc010zfg.1	-	275	75303	c.75079A>T	c.(75079-75081)ATT>TTT	p.I25027F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I18722F|TTN_uc010zfi.1_Missense_Mutation_p.I18655F|TTN_uc010zfj.1_Missense_Mutation_p.I18530F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25954							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCATAAATTGGCTTACTC	0.507		NaN											0	0	0	0.001368	0	10	22				
TTN	7273	broad.mit.edu	37	2	179431369	179431369	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179431369A>G	uc010zfg.1	-	275	72010	c.71786T>C	c.(71785-71787)GTA>GCA	p.V23929A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17624A|TTN_uc010zfi.1_Missense_Mutation_p.V17557A|TTN_uc010zfj.1_Missense_Mutation_p.V17432A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24856							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGGTGTCTACAATGTGTGC	0.443		NaN											0	0	0	0.00361	0	57	165				
TTN	7273	broad.mit.edu	37	2	179440159	179440159	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179440159T>C	uc010zfg.1	-	275	63220	c.62996A>G	c.(62995-62997)TAT>TGT	p.Y20999C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14694C|TTN_uc010zfi.1_Missense_Mutation_p.Y14627C|TTN_uc010zfj.1_Missense_Mutation_p.Y14502C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21926							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAATCACATAGCCAGTGAT	0.493		NaN											0	0	0	0.002299	0	20	40				
TTN	7273	broad.mit.edu	37	2	179621183	179621183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179621183C>T	uc010zfh.1	-	44	10731	c.10507G>A	c.(10507-10509)GGT>AGT	p.G3503S	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCGTGTCACCGCACTTTACA	0.453		NaN											0	0	0	0.00333	0	22	8				
HECW2	57520	broad.mit.edu	37	2	197183282	197183282	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:197183282T>A	uc002utm.1	-	9	2515	c.2332A>T	c.(2332-2334)ACT>TCT	p.T778S	HECW2_uc002utl.1_Missense_Mutation_p.T422S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	778	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CTACCTCCAGTAGCGCCCTCC	0.592		NaN											0	0	0	0.007291	0	24	19				
HSPE1	3336	broad.mit.edu	37	2	198367982	198367982	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:198367982G>A	uc002uul.2	+	4	748	c.308G>A	c.(307-309)TGA>TAA	p.*103*	HSPD1_uc002uuk.2_5'Flank	NM_002157	NP_002148	P61604	CH10_HUMAN	heat shock 10kDa protein 1	103					activation of caspase activity|protein folding|response to unfolded protein	mitochondrial matrix	ATP binding|chaperone binding|unfolded protein binding				0			Epithelial(96;0.225)			TACGTAGACTGAAATAAGTCA	0.328		NaN											0	0	0	0.00361	0	38	9				
ADAM23	8745	broad.mit.edu	37	2	207459510	207459510	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:207459510G>C	uc002vbq.2	+	23	2351	c.2128G>C	c.(2128-2130)GAT>CAT	p.D710H	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	710	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTATGTAGAAGATGGAACGCC	0.428		NaN											0	0	0	0.00361	0	42	25				
USP37	57695	broad.mit.edu	37	2	219324581	219324581	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:219324581C>G	uc002vie.2	-	23	3028	c.2575G>C	c.(2575-2577)GGA>CGA	p.G859R	USP37_uc010fvs.1_Missense_Mutation_p.G859R|USP37_uc010zkf.1_Missense_Mutation_p.G859R|USP37_uc002vif.2_Missense_Mutation_p.G859R|USP37_uc002vig.2_Missense_Mutation_p.G765R	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	859					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCCTCATTTCCAGAGTCCTCA	0.358		NaN											0	0	0	0.00361	0	60	3				
PAX3	5077	broad.mit.edu	37	2	223086063	223086063	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:223086063C>T	uc010fwo.2	-	6	1202	c.836G>A	c.(835-837)GGG>GAG	p.G279E	PAX3_uc002vmt.1_Missense_Mutation_p.G279E|PAX3_uc002vmy.1_Missense_Mutation_p.G278E|PAX3_uc002vmv.1_Missense_Mutation_p.G279E|PAX3_uc002vmw.1_Missense_Mutation_p.G279E|PAX3_uc002vmx.1_Missense_Mutation_p.G279E	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	279					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATTGGCCCCAGCTTGCTT	0.473		NaN	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						0	0	0	0.00361	0	74	5				
WDR69	164781	broad.mit.edu	37	2	228758558	228758558	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:228758558C>T	uc002vpn.1	+	5	444	c.365C>T	c.(364-366)GCG>GTG	p.A122V	WDR69_uc010zlw.1_Missense_Mutation_p.A107V|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	122	WD 1.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGGACACTGCGTCTGGAGAG	0.433		NaN											0	0	0	0.00308	0	7	2				
PSMD1	5707	broad.mit.edu	37	2	231927368	231927368	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:231927368G>A	uc002vrn.1	+	4	414	c.283G>A	c.(283-285)GAA>AAA	p.E95K	PSMD1_uc002vrm.1_Missense_Mutation_p.E95K|PSMD1_uc010fxu.1_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGATAACTCTGAATATGTGGA	0.398		NaN											0	0	0	0.003954	0	20	3				
HSPA12B	116835	broad.mit.edu	37	20	3730479	3730479	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:3730479C>T	uc002wjd.2	+	10	1123	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L	HSPA12B_uc010zqi.1_Silent_p.L339L|HSPA12B_uc002wje.2_Silent_p.L253L|HSPA12B_uc010zqj.1_Silent_p.L174L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	340							ATP binding				0						ATGGCACCCTCAAGGAGCTCT	0.746		NaN											0	0	0	0.009096	0	4	13				
SPTLC3	55304	broad.mit.edu	37	20	13052966	13052966	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:13052966C>G	uc002wod.1	+	3	655	c.366C>G	c.(364-366)ATC>ATG	p.I122M		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	122					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ACATGCGAATCAGAGACAACT	0.433		NaN											0	0	0	0.00361	0	34	83				
ID1	3397	broad.mit.edu	37	20	30193268	30193268	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:30193268C>G	uc002wwg.1	+	1	177	c.78C>G	c.(76-78)AGC>AGG	p.S26R	ID1_uc002wwh.1_Missense_Mutation_p.S26R|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	26					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGACAGCGAGCGGTGCGGGCG	0.607		NaN											0	0	0	0.001168	0	6	15				
CEP250	11190	broad.mit.edu	37	20	34057721	34057721	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:34057721C>G	uc002xcm.2	+	11	1529	c.858C>G	c.(856-858)ACC>ACG	p.T286T	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Silent_p.T93T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	286	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAGGGTGACCGAGCTCTCTG	0.418		NaN											0	0	0	0.001168	0	5	27				
FITM2	128486	broad.mit.edu	37	20	42935833	42935833	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:42935833G>C	uc002xlr.1	-	2	322	c.221C>G	c.(220-222)CCT>CGT	p.P74R		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	74	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						GGCAATGAAAGGCAGAAGGAG	0.577		NaN											0	0	0	0.005443	0	24	8				
TTPAL	79183	broad.mit.edu	37	20	43115337	43115337	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:43115337A>T	uc002xmc.1	+	5	865	c.741A>T	c.(739-741)ATA>ATT	p.I247I	TTPAL_uc002xmd.1_Silent_p.I247I|TTPAL_uc010ggr.1_Silent_p.I60I	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						AGGAGAAAATAGCAAACAGAG	0.348		NaN											0	0	0	0.000602	0	5	8				
ZSWIM1	90204	broad.mit.edu	37	20	44511647	44511647	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44511647G>T	uc010ghi.2	+	2	529	c.416G>T	c.(415-417)TGG>TTG	p.W139L	ZSWIM1_uc010zxh.1_Missense_Mutation_p.W12L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	139							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				AATCCAGCATGGGAGAGAGTC	0.527		NaN											1	0	7.92952e-12	0.003954	8.58709e-12	23	69				
CD40	958	broad.mit.edu	37	20	44751393	44751393	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44751393T>C	uc002xrg.1	+	4	478	c.401T>C	c.(400-402)ATT>ACT	p.I134T	CD40_uc002xrf.1_Missense_Mutation_p.I134T|CD40_uc002xrh.1_Missense_Mutation_p.I134T|CD40_uc002xri.1_Missense_Mutation_p.I134T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	134	Extracellular (Potential).|TNFR-Cys 3.				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GTCAAGCAGATTGGTAAGTGG	0.597		NaN							Immune_Deficiency_with_Hyper-IgM				0	0	0	0.00361	0	57	22				
ZNF334	55713	broad.mit.edu	37	20	45130608	45130608	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:45130608C>A	uc002xsc.2	-	5	1554	c.1370G>T	c.(1369-1371)GGA>GTA	p.G457V	ZNF334_uc002xsa.2_Missense_Mutation_p.G480V|ZNF334_uc002xsb.2_Missense_Mutation_p.G419V|ZNF334_uc002xsd.2_Missense_Mutation_p.G419V|ZNF334_uc010ghl.2_Missense_Mutation_p.G456V	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				AGACTTCTTTCCTCTATGAGT	0.388		NaN											1	0	1.3612e-06	0.003163	1.41429e-06	13	63				
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:51873094G>A	uc002xwo.2	+	2	4053	c.3097G>A	c.(3097-3099)GAA>AAA	p.E1033K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493		NaN											0	0	0	0.00361	0	85	41				
CYP24A1	1591	broad.mit.edu	37	20	52788149	52788149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:52788149C>A	uc002xwv.2	-	3	908	c.510G>T	c.(508-510)GGG>GGT	p.G170G	CYP24A1_uc002xwu.1_Silent_p.G28G|CYP24A1_uc002xww.2_Silent_p.G170G	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	170					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATCACTTCCCCTGGTTTCA	0.507		NaN											1	0	2.80507e-11	0.012213	3.03276e-11	29	153				
NTSR1	4923	broad.mit.edu	37	20	61341220	61341220	+	Missense_Mutation	SNP	G	G	A	rs143560266	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:61341220G>A	uc002ydf.2	+	1	1032	c.661G>A	c.(661-663)GGC>AGC	p.G221S		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	221	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGCCGGCGGCCTGGTGTG	0.672		NaN											0	0	0	0.010771	0	30	15				
TPTE	7179	broad.mit.edu	37	21	10951423	10951423	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:10951423A>T	uc002yip.1	-	10	657	c.289T>A	c.(289-291)TTT>ATT	p.F97I	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.F79I|TPTE_uc002yir.1_Missense_Mutation_p.F59I|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	97	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACTCCAAATAGTCTAaaa	0.333		NaN											0	0	0	0.009096	0	3	42				
KRTAP22-1	337979	broad.mit.edu	37	21	31973522	31973522	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:31973522G>A	uc011add.1	+	1	83	c.83G>A	c.(82-84)GGC>GAC	p.G28D	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	28						intermediate filament					0						GGTCTTAGCGGCTATGGCTAT	0.488		NaN											0	0	0	0.00361	0	111	9				
KRTAP8-1	337879	broad.mit.edu	37	21	32185477	32185477	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32185477T>G	uc002you.2	-	1	94	c.62A>C	c.(61-63)TAC>TCC	p.Y21S		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	21	12 X 2 AA repeats of G-[YCGS].					intermediate filament					0						TCCCAGCGGGTAGCCATAGCT	0.602		NaN											0	0	0	0.00874	0	36	2				
TIAM1	7074	broad.mit.edu	37	21	32617923	32617924	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32617923_32617924TG>AA	uc002yow.1	-	7	1936_1937	c.1464_1465CA>TT	c.(1462-1467)AACAGC>AATTGC	p.S489C	TIAM1_uc011adk.1_Missense_Mutation_p.S489C|TIAM1_uc011adl.1_Missense_Mutation_p.S489C|TIAM1_uc002yox.1_Missense_Mutation_p.S97C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	489	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTGGGGATGCTGTTGTGGTCTA	0.545		NaN											0	0	0	0.004672	0	18	3				
DSCAM	1826	broad.mit.edu	37	21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41385013C>T	uc002yyq.1	-	33	6439	c.5987G>A	c.(5986-5988)CGG>CAG	p.R1996Q	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1996	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAATGGCCCCGGGAGTCGAG	0.517		NaN											0	0	0	0.003271	0	26	2				
DSCAM	1826	broad.mit.edu	37	21	41416166	41416166	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41416166G>T	uc002yyq.1	-	31	5674	c.5222C>A	c.(5221-5223)ACA>AAA	p.T1741K	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1741	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTTCTCGCTGTGGGCCCAGC	0.602		NaN											1	0	1.01871e-10	0.008871	1.09784e-10	16	1				
KRTAP10-4	386672	broad.mit.edu	37	21	45994247	45994247	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:45994247C>T	uc002zfk.1	+	1	642	c.612C>T	c.(610-612)TGC>TGT	p.C204C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	204	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TCAGCTCCTGCACGCCCTCGT	0.662		NaN											0	0	0	0.00361	0	51	6				
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:17073279G>A	uc002zlp.1	-	1	422	c.162C>T	c.(160-162)CAC>CAT	p.H54H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	54					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCCGGCCGTGGGGGCCAT	0.637		NaN											0	0	0	0.000602	0	3	94				
C22orf29	79680	broad.mit.edu	37	22	19838758	19838758	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:19838758C>T	uc002zqg.2	-	2	1626	c.1027G>A	c.(1027-1029)GGT>AGT	p.G343S	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.G343S|C22orf29_uc002zqi.2_Missense_Mutation_p.G343S|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	343											0	Colorectal(54;0.0993)					TGTGGGGTACCTAAGGACACC	0.602		NaN											0	0	0	0.009096	0	4	2				
MED15	51586	broad.mit.edu	37	22	20937496	20937496	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:20937496C>A	uc002zsp.2	+	12	1714	c.1634C>A	c.(1633-1635)CCC>CAC	p.P545H	MED15_uc002zsq.2_Missense_Mutation_p.P505H|MED15_uc010gso.2_Missense_Mutation_p.P488H|MED15_uc002zsr.2_Missense_Mutation_p.P479H|MED15_uc011ahs.1_Missense_Mutation_p.P479H|MED15_uc002zss.2_Missense_Mutation_p.P424H|MED15_uc011ahu.1_Missense_Mutation_p.P255H|MED15_uc002zst.2_Missense_Mutation_p.P161H|MED15_uc002zsu.2_Missense_Mutation_p.P150H	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	545					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TACATCGAGCCCCTGCGCCGC	0.607		NaN											1	0	0.000442599	0.006214	0.000451411	10	9				
LZTR1	8216	broad.mit.edu	37	22	21345960	21345960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:21345960C>G	uc002zto.2	+	9	938	c.835C>G	c.(835-837)CCA>GCA	p.P279A	LZTR1_uc002ztn.2_Missense_Mutation_p.P238A|LZTR1_uc011ahy.1_Missense_Mutation_p.P260A|LZTR1_uc010gsr.1_Missense_Mutation_p.P150A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	279	Kelch 4.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCTCCCCACCACCCCCGCA	0.647		NaN											0	0	0	0.006214	0	7	19				
PPM1F	9647	broad.mit.edu	37	22	22277628	22277628	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:22277628C>A	uc002zvp.1	-	8	1316	c.1202G>T	c.(1201-1203)GGC>GTC	p.G401V	PPM1F_uc011aik.1_Missense_Mutation_p.G297V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	401					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTCGTGGGAGCCCCGCTCCCG	0.687		NaN											1	0	1.7489e-18	0.011902	1.98428e-18	35	35				
CRYBA4	1413	broad.mit.edu	37	22	27021570	27021570	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:27021570G>A	uc003acz.3	+	4	319	c.284G>A	c.(283-285)CGG>CAG	p.R95Q		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	95	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						ACCTCCTTCCGGCCTGCGGCC	0.537		NaN											0	0	0	0.00361	0	56	64				
AP1B1	162	broad.mit.edu	37	22	29763219	29763219	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:29763219T>G	uc003afj.2	-	2	198	c.14A>C	c.(13-15)AAA>ACA	p.K5T	AP1B1_uc003afi.2_Missense_Mutation_p.K5T|AP1B1_uc003afk.2_Missense_Mutation_p.K5T|AP1B1_uc003afl.2_Missense_Mutation_p.K5T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	5					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GGTGAAATATTTTGAGTCAGT	0.443		NaN											0	0	0	0.004656	0	13	43				
PLA2G3	50487	broad.mit.edu	37	22	31532738	31532738	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:31532738A>G	uc003aka.2	-	6	1376	c.1247T>C	c.(1246-1248)ATG>ACG	p.M416T		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	416					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CTCCCAAAGCATGTTGGTAAC	0.627		NaN											0	0	0	0.001168	0	5	157				
TRIOBP	11078	broad.mit.edu	37	22	38119892	38119892	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38119892C>G	uc003atr.2	+	7	1600	c.1329C>G	c.(1327-1329)CCC>CCG	p.P443P	TRIOBP_uc003atu.2_Silent_p.P271P|TRIOBP_uc003atq.1_Silent_p.P443P|TRIOBP_uc003ats.1_Silent_p.P271P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	443					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582		NaN											0	0	0	0.00245	0	5	111				
TRIOBP	11078	broad.mit.edu	37	22	38120039	38120039	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38120039C>G	uc003atr.2	+	7	1747	c.1476C>G	c.(1474-1476)CCC>CCG	p.P492P	TRIOBP_uc003atu.2_Silent_p.P320P|TRIOBP_uc003atq.1_Silent_p.P492P|TRIOBP_uc003ats.1_Silent_p.P320P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	492					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582		NaN											0	0	0	0.00361	0	49	58				
DNAJB7	150353	broad.mit.edu	37	22	41257777	41257777	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:41257777G>A	uc003azj.2	-	1	354	c.222C>T	c.(220-222)AAC>AAT	p.N74N	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	74					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						TTCCACCTCCGTTTAATCCTT	0.358		NaN											0	0	0	0.00361	0	66	1				
EFCAB6	64800	broad.mit.edu	37	22	44031097	44031097	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:44031097C>T	uc003bdy.1	-	18	2199	c.1984_splice	c.e18-1	p.V662_splice	EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCAGTACCTGACGAGGGA	0.572		NaN											0	0	0	0.00361	0	37	40				
FBLN1	2192	broad.mit.edu	37	22	45972913	45972913	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:45972913A>G	uc003bgj.1	+	16	2044	c.1897A>G	c.(1897-1899)ATC>GTC	p.I633V		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	633					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTAACATCATCTTCGACAT	0.552		NaN											0	0	0	0.013114	0	36	101				
SNRK	54861	broad.mit.edu	37	3	43384866	43384866	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:43384866C>G	uc003cms.3	+	6	1307	c.975C>G	c.(973-975)ATC>ATG	p.I325M	SNRK_uc003cmt.3_Missense_Mutation_p.I325M|SNRK_uc010hik.2_Missense_Mutation_p.I325M|SNRK_uc011azr.1_Missense_Mutation_p.I119M	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	325	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATAACCATATCACAGCCACAT	0.448		NaN											0	0	0	0.009096	0	3	87				
TMIE	259236	broad.mit.edu	37	3	46751086	46751086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:46751086A>C	uc010hjk.1	+	4	534	c.379A>C	c.(379-381)AAG>CAG	p.K127Q	TMIE_uc010hjj.1_3'UTR	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	transmembrane inner ear protein precursor	127	Cytoplasmic (Potential).|Lys-rich.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		gaagaagaagaagaagaagaa	0.458		NaN											0	0	0	0.008871	0	19	28				
CELSR3	1951	broad.mit.edu	37	3	48699092	48699092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:48699092G>A	uc003cul.2	-	1	1257	c.976C>T	c.(976-978)CCG>TCG	p.P326S	CELSR3_uc003cuf.1_Missense_Mutation_p.P396S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	326	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTACTGCGGAAACTGCGGG	0.701		NaN											0	0	0	0.009535	0	25	80				
BSN	8927	broad.mit.edu	37	3	49689154	49689154	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:49689154C>T	uc003cxe.3	+	5	2279	c.2165C>T	c.(2164-2166)TCC>TTC	p.S722F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	722					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGCCCCTCCGAGATCCAC	0.647		NaN											0	0	0	0.00361	0	62	30				
GRM2	2912	broad.mit.edu	37	3	51746972	51746972	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:51746972G>A	uc010hlv.2	+	3	1173	c.934G>A	c.(934-936)GAG>AAG	p.E312K	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	312	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGGGGCTGCTGAGGGTGCTAT	0.627		NaN											0	0	0	0.00361	0	39	23				
UBA3	9039	broad.mit.edu	37	3	69113226	69113226	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:69113226G>A	uc003dno.2	-	7	485	c.465C>T	c.(463-465)TTC>TTT	p.F155F	UBA3_uc003dnq.2_Silent_p.F141F|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	155	ATP.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACGTCGATAGAAAGTGTCGT	0.289		NaN											0	0	0	0.006214	0	6	7				
ROBO2	6092	broad.mit.edu	37	3	77607281	77607281	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77607281T>C	uc003dpy.3	+	9	2061	c.1418T>C	c.(1417-1419)CTG>CCG	p.L473P	ROBO2_uc003dpz.2_Missense_Mutation_p.L477P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L477P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	473	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAAGGCACACTGCAGATTAAG	0.378		NaN											0	0	0	0.00361	0	55	24				
ROBO2	6092	broad.mit.edu	37	3	77626765	77626765	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77626765G>T	uc003dpy.3	+	15	2971	c.2328G>T	c.(2326-2328)AAG>AAT	p.K776N	ROBO2_uc003dpz.2_Missense_Mutation_p.K780N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.K780N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	776	Fibronectin type-III 3.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATACAAGGTAGGACCCG	0.443		NaN											1	0	6.00712e-18	0.012213	6.76945e-18	25	14				
EPHA6	285220	broad.mit.edu	37	3	97311498	97311498	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:97311498T>A	uc010how.1	+	12	2472	c.2429T>A	c.(2428-2430)TTC>TAC	p.F810Y	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.F176Y|EPHA6_uc003drs.3_Missense_Mutation_p.F202Y|EPHA6_uc003drr.3_Missense_Mutation_p.F202Y|EPHA6_uc003drt.2_Missense_Mutation_p.F202Y|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	715	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TGCCCCAGCTTCCTGAGGGCA	0.493		NaN											0	0	0	0.00245	0	11	23				
CD200	4345	broad.mit.edu	37	3	112059796	112059796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:112059796G>A	uc003dyw.2	+	3	279	c.135G>A	c.(133-135)TGG>TGA	p.W45*	CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Nonsense_Mutation_p.W20*|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	20					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GCCTGGTTTGGGTCATGGCAG	0.483		NaN											0	0	0	0.005443	0	16	57				
CCDC52	152185	broad.mit.edu	37	3	113188079	113188079	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113188079G>C	uc003eag.3	-	8	909	c.618C>G	c.(616-618)CTC>CTG	p.L206L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L102L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	206					cell division|mitosis	centriole|spindle	protein binding				0						TTAGTTGTTGGAGAAACCTAT	0.259		NaN											0	0	0	0.007413	0	16	6				
KIAA2018	205717	broad.mit.edu	37	3	113376934	113376934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113376934G>A	uc003eam.2	-	7	4006	c.3595C>T	c.(3595-3597)CAG>TAG	p.Q1199*	KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q1143*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1199					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ATTGAACCCTGAGAATTAAAT	0.413		NaN											0	0	0	0.00333	0	21	17				
ZBTB20	26137	broad.mit.edu	37	3	114070467	114070467	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:114070467T>C	uc003ebi.2	-	4	638	c.458A>G	c.(457-459)AAG>AGG	p.K153R	ZBTB20_uc003ebj.2_Missense_Mutation_p.K80R|ZBTB20_uc010hqp.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebk.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebl.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebm.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebn.2_Missense_Mutation_p.K80R|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	153	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTCAATGAGCTTTTGCACTGA	0.582		NaN											0	0	0	0.012319	0	18	53				
KTELC1	56983	broad.mit.edu	37	3	119205718	119205718	+	Missense_Mutation	SNP	G	G	T	rs117423733	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:119205718G>T	uc003ecm.2	+	7	761	c.677G>T	c.(676-678)CGG>CTG	p.R226L	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R67L	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	226						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		CTTCTGTCTCGGAAAAACCCA	0.413		NaN											1	0	1.88225e-35	0.00361	2.21481e-35	47	68				
GOLGB1	2804	broad.mit.edu	37	3	121410945	121410945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121410945C>T	uc003eei.3	-	14	7377	c.7251G>A	c.(7249-7251)CTG>CTA	p.L2417L	GOLGB1_uc010hrc.2_Silent_p.L2422L|GOLGB1_uc003eej.3_Silent_p.L2383L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2417	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CCTCCTGGGACAGCAGGTTTT	0.403		NaN											0	0	0	0.002836	0	29	29				
GOLGB1	2804	broad.mit.edu	37	3	121417379	121417379	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121417379A>C	uc003eei.3	-	13	2102	c.1976T>G	c.(1975-1977)GTA>GGA	p.V659G	GOLGB1_uc010hrc.2_Missense_Mutation_p.V664G|GOLGB1_uc003eej.3_Missense_Mutation_p.V625G|GOLGB1_uc011bjm.1_Missense_Mutation_p.V545G|GOLGB1_uc010hrd.1_Missense_Mutation_p.V623G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	659	Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTCAATTCTACTCCAGCATC	0.393		NaN											0	0	0	0.001168	0	3	92				
CCDC37	348807	broad.mit.edu	37	3	126142417	126142417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:126142417C>T	uc003eiu.1	+	13	1315	c.1216C>T	c.(1216-1218)CAG>TAG	p.Q406*	CCDC37_uc010hsg.1_Nonsense_Mutation_p.Q407*	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	406	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GTCGCTGATCCAGAACAGCCA	0.597		NaN											0	0	0	0.009718	0	33	39				
ABTB1	80325	broad.mit.edu	37	3	127391916	127391916	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:127391916C>T	uc003ejt.2	+	1	136	c.48C>T	c.(46-48)GGC>GGT	p.G16G	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A3V|ABTB1_uc003eju.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	16	ANK 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGGATGTGGGCCGAGTGCGGT	0.746		NaN											0	0	0	0.010729	0	9	19				
ATP2C1	27032	broad.mit.edu	37	3	130686221	130686221	+	Missense_Mutation	SNP	G	G	T	rs115441492	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:130686221G>T	uc003enl.2	+	16	1488	c.1266G>T	c.(1264-1266)ATG>ATT	p.M422I	ATP2C1_uc011blg.1_Missense_Mutation_p.M456I|ATP2C1_uc011blh.1_Missense_Mutation_p.M417I|ATP2C1_uc011bli.1_Missense_Mutation_p.M456I|ATP2C1_uc003enk.2_Missense_Mutation_p.M406I|ATP2C1_uc003enm.2_Missense_Mutation_p.M422I|ATP2C1_uc003enn.2_Missense_Mutation_p.M406I|ATP2C1_uc003eno.2_Missense_Mutation_p.M422I|ATP2C1_uc003enp.2_Missense_Mutation_p.M422I|ATP2C1_uc003enq.2_Missense_Mutation_p.M422I|ATP2C1_uc003enr.2_Missense_Mutation_p.M422I|ATP2C1_uc003ens.2_Missense_Mutation_p.M422I|ATP2C1_uc003ent.2_Missense_Mutation_p.M422I|ATP2C1_uc003enu.2_Missense_Mutation_p.M100I	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	422	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATACTCTAATGGGGAAGCCAA	0.393		NaN							Hailey-Hailey_disease				1	0	1.06644e-07	0.007835	1.11675e-07	29	36				
EPHB1	2047	broad.mit.edu	37	3	134851706	134851706	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:134851706C>T	uc003eqt.2	+	5	1332	c.1112C>T	c.(1111-1113)TCC>TTC	p.S371F	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	371	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CGGAGCTGCTCCCGCTGTGAC	0.612		NaN											0	0	0	0.007835	0	29	27				
STAG1	10274	broad.mit.edu	37	3	136085925	136085925	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136085925C>G	uc003era.1	-	25	2838	c.2546_splice	c.e25-1	p.E849_splice	STAG1_uc003erb.1_Splice_Site_p.E849_splice|STAG1_uc003erc.1_Intron	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TCATCACCCTCTAAACACAGA	0.299		NaN											0	0	0	0.012213	0	22	119				
STAG1	10274	broad.mit.edu	37	3	136196190	136196190	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136196190T>A	uc003era.1	-	10	1259	c.967A>T	c.(967-969)AGT>TGT	p.S323C	STAG1_uc003erb.1_Missense_Mutation_p.S323C|STAG1_uc003erc.1_Missense_Mutation_p.S97C|STAG1_uc010hua.1_Missense_Mutation_p.S186C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	323	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						AAGGCATCACTATACATTTTC	0.343		NaN											0	0	0	0.00361	0	57	29				
PRR23A	729627	broad.mit.edu	37	3	138724664	138724664	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:138724664G>A	uc011bms.1	-	1	447	c.447C>T	c.(445-447)ATC>ATT	p.I149I		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	proline rich 23A	149											0						CCTGGGCGGCGATCTCTGGGA	0.647		NaN											0	0	0	0.00499	0	11	24				
GRK7	131890	broad.mit.edu	37	3	141497288	141497288	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:141497288G>A	uc011bnd.1	+	1	246	c.162G>A	c.(160-162)CTG>CTA	p.L54L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	54					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AGCTGTCCCTGAACTTCCACA	0.677		NaN											0	0	0	0.00278	0	20	1				
PAQR9	344838	broad.mit.edu	37	3	142681984	142681984	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:142681984A>T	uc003evg.2	-	1	195	c.195T>A	c.(193-195)CGT>CGA	p.R65R	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	65	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TGCACGGCAGACGCCGGTAGC	0.667		NaN											0	0	0	0.00245	0	13	4				
WDR49	151790	broad.mit.edu	37	3	167196776	167196776	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:167196776C>G	uc003fev.1	-	15	2290	c.1984G>C	c.(1984-1986)GCT>CCT	p.A662P	WDR49_uc003feu.1_Missense_Mutation_p.A487P|WDR49_uc011bpd.1_Missense_Mutation_p.A627P|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	662										large_intestine(1)|ovary(1)|skin(1)	3						TCAAATACAGCTTTCAAAGCT	0.318		NaN											0	0	0	0.004672	0	2	9				
PLD1	5337	broad.mit.edu	37	3	171427487	171427487	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:171427487T>C	uc003fhs.2	-	10	1040	c.924A>G	c.(922-924)TTA>TTG	p.L308L	PLD1_uc003fht.2_Silent_p.L308L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	308	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTTGCATTTTAAAATAAGTG	0.373		NaN											0	0	0	0.00361	0	39	39				
NLGN1	22871	broad.mit.edu	37	3	173998359	173998359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:173998359C>A	uc003fio.1	+	7	2161	c.1738C>A	c.(1738-1740)CAG>AAG	p.Q580K	NLGN1_uc003fip.1_Missense_Mutation_p.Q580K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	597	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGATATTCCCAGAAAGACCA	0.403		NaN											1	0	1.30916e-28	0.00361	1.519e-28	41	48				
GAK	2580	broad.mit.edu	37	4	860930	860930	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:860930C>A	uc003gbm.3	-	21	2885	c.2686G>T	c.(2686-2688)GTA>TTA	p.V896L	GAK_uc003gbn.3_Missense_Mutation_p.V817L|GAK_uc010ibk.1_Missense_Mutation_p.V790L|GAK_uc010ibi.2_Missense_Mutation_p.V77L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V760L	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	896					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TGCGGGGGTACAGCTGGCCCT	0.701		NaN											1	0	5.35267e-07	0.007413	5.57884e-07	16	6				
RGS12	6002	broad.mit.edu	37	4	3424264	3424264	+	Silent	SNP	G	G	A	rs139780010		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3424264G>A	uc003ggw.2	+	11	3904	c.3000G>A	c.(2998-3000)GCG>GCA	p.A1000A	RGS12_uc003ggv.2_Silent_p.A1000A|RGS12_uc003ggy.1_Silent_p.A398A|RGS12_uc003ggz.2_Silent_p.A352A|RGS12_uc010icu.1_Silent_p.A199A|RGS12_uc011bvs.1_Silent_p.A342A|RGS12_uc003gha.2_Silent_p.A342A|RGS12_uc010icv.2_Silent_p.A199A|RGS12_uc003ghb.2_Silent_p.A199A	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1000	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACGGGGCGGCCGCGGACC	0.672		NaN											0	0	0	0.006122	0	13	44				
HGFAC	3083	broad.mit.edu	37	4	3449273	3449273	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3449273G>A	uc003ghc.2	+	11	1413	c.1410G>A	c.(1408-1410)ACG>ACA	p.T470T	HGFAC_uc010icw.2_Silent_p.T477T	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	470	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCAACCGCACGACGGACGTGA	0.662		NaN											0	0	0	0.00361	0	218	127				
STK32B	55351	broad.mit.edu	37	4	5468533	5468533	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:5468533G>A	uc003gih.1	+	10	1077	c.1013G>A	c.(1012-1014)AGG>AAG	p.R338K	STK32B_uc010ida.1_Missense_Mutation_p.R291K	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	338							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						AACAGATCCAGGGATGGCACA	0.517		NaN											0	0	0	0.009535	0	24	15				
HTRA3	94031	broad.mit.edu	37	4	8288388	8288388	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8288388A>C	uc003gla.2	+	3	790	c.586A>C	c.(586-588)AAC>CAC	p.N196H	HTRA3_uc003gkz.2_Missense_Mutation_p.N196H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	196	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GGTGTCCAGCAACAGTGCTGC	0.592		NaN											0	0	0	0.001168	0	5	121				
C4orf23	152992	broad.mit.edu	37	4	8469757	8469757	+	Missense_Mutation	SNP	G	G	C	rs35357682	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8469757G>C	uc003glg.1	+	9	1112	c.924G>C	c.(922-924)TGG>TGC	p.W308C	C4orf23_uc003glf.1_Missense_Mutation_p.W296C|C4orf23_uc003glh.1_Missense_Mutation_p.W145C	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	537					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						CACCTGGCTGGGAGCTTTCCC	0.587		NaN											0	0	0	0.008871	0	15	10				
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:16900017C>T	uc003goz.2	-	1	408	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	LDB2_uc003gpa.2_Missense_Mutation_p.R31Q|LDB2_uc003gpb.2_Missense_Mutation_p.R31Q|LDB2_uc011bxh.1_Missense_Mutation_p.R31Q|LDB2_uc010iee.2_Missense_Mutation_p.R31Q	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	31							LIM domain binding|transcription cofactor activity				0						CTCATAGATTCGGTACTCTGG	0.453		NaN											0	0	0	0.00499	0	17	49				
FRYL	285527	broad.mit.edu	37	4	48592691	48592691	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:48592691C>G	uc003gyh.1	-	17	2097	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	FRYL_uc003gyk.2_Missense_Mutation_p.E498Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACTTTTGCTTCTTCATCTGTC	0.299		NaN											0	0	0	0.004007	0	13	22				
PDGFRA	5156	broad.mit.edu	37	4	55144549	55144549	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:55144549G>C	uc003han.3	+	15	2354	c.2023G>C	c.(2023-2025)GAG>CAG	p.E675Q	PDGFRA_uc003haa.2_Missense_Mutation_p.E435Q|PDGFRA_uc010igq.1_Missense_Mutation_p.E569Q|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.E54Q	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	675	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATCATCACAGAGTATTGCTT	0.433		NaN	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			0	0	0	0.00333	0	17	26				
LPHN3	23284	broad.mit.edu	37	4	62800644	62800644	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:62800644G>T	uc010ihh.2	+	11	2168	c.1995G>T	c.(1993-1995)GCG>GCT	p.A665A	LPHN3_uc003hcq.3_Silent_p.A665A|LPHN3_uc003hct.2_Silent_p.A58A|LPHN3_uc003hcs.1_Silent_p.A481A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	652	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AGCTGCGTGCGGCCACCATGT	0.463		NaN											1	0	5.4927e-09	0.004482	5.8158e-09	7	27				
C4orf35	85438	broad.mit.edu	37	4	71201390	71201390	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71201390A>G	uc003hff.2	+	1	720	c.634A>G	c.(634-636)ATT>GTT	p.I212V		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	212						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TGATTCCACTATTCCTGAGGC	0.428		NaN											0	0	0	0.00632	0	18	26				
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71347138C>T	uc011cat.1	+	4	965	c.677C>T	c.(676-678)CCA>CTA	p.P226L	MUC7_uc011cau.1_Missense_Mutation_p.P226L|MUC7_uc003hfj.2_Missense_Mutation_p.P226L|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	226	3.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582		NaN											0	0	0	0.000602	0	5	244				
RASGEF1B	153020	broad.mit.edu	37	4	82355883	82355883	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:82355883C>T	uc003hmi.1	-	11	1254	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	RASGEF1B_uc003hmj.1_Silent_p.V369V|RASGEF1B_uc010ijq.1_Silent_p.V328V	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	370	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGAATGGTATCACAATCTAGA	0.358		NaN											0	0	0	0.004482	0	7	5				
MRPS18C	51023	broad.mit.edu	37	4	84382165	84382165	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:84382165T>A	uc003hor.3	+	5	445	c.332T>A	c.(331-333)ATT>AAT	p.I111N	MRPS18C_uc011ccu.1_Missense_Mutation_p.I111N|FAM175A_uc003hot.2_3'UTR|FAM175A_uc003hou.2_3'UTR|FAM175A_uc003hov.2_3'UTR	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C precursor	111					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0		Hepatocellular(203;0.114)				ACAAAAGCAATTAAGAGAGCT	0.279		NaN											0	0	0	0.006214	0	7	23				
MAPK10	5602	broad.mit.edu	37	4	87080492	87080492	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:87080492C>T	uc003hpq.2	-	3	262	c.195G>A	c.(193-195)CAG>CAA	p.Q65Q	MAPK10_uc010ikg.2_Silent_p.Q27Q|MAPK10_uc003hpr.2_Silent_p.Q27Q|MAPK10_uc003hps.2_Silent_p.Q65Q|MAPK10_uc003hpt.2_Silent_p.Q65Q|MAPK10_uc003hpu.2_Silent_p.Q65Q|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|uc003hpw.2_Intron	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	65	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCTTTAGATTCTGGTAGCGCT	0.443		NaN											0	0	0	0.010729	0	11	45				
RG9MTD2	93587	broad.mit.edu	37	4	100479265	100479265	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:100479265C>T	uc003huy.2	-	3	602	c.289G>A	c.(289-291)GTT>ATT	p.V97I	RG9MTD2_uc003huz.3_Missense_Mutation_p.V97I|RG9MTD2_uc003hva.3_Missense_Mutation_p.V97I	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	97							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTGCTATGAACAACATCTCTT	0.353		NaN											0	0	0	0.00245	0	13	11				
ENPEP	2028	broad.mit.edu	37	4	111441503	111441503	+	Missense_Mutation	SNP	C	C	G	rs138043602	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:111441503C>G	uc003iab.3	+	10	2050	c.1708C>G	c.(1708-1710)CAG>GAG	p.Q570E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	570	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAACCCTTCTCAGCCCCCTTC	0.413		NaN											0	0	0	0.005443	0	21	18				
ANK2	287	broad.mit.edu	37	4	114179491	114179491	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:114179491T>C	uc003ibe.3	+	13	1410	c.1310T>C	c.(1309-1311)GTG>GCG	p.V437A	ANK2_uc003ibd.3_Missense_Mutation_p.V416A|ANK2_uc003ibf.3_Missense_Mutation_p.V437A|ANK2_uc003ibc.2_Missense_Mutation_p.V413A|ANK2_uc011cgb.1_Missense_Mutation_p.V452A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	437	ANK 13.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAATACATGTGGCTGCCTTC	0.488		NaN											0	0	0	0.005524	0	28	96				
SYNPO2	171024	broad.mit.edu	37	4	119951885	119951885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:119951885C>T	uc003icm.3	+	4	2151	c.1955C>T	c.(1954-1956)CCT>CTT	p.P652L	SYNPO2_uc010ina.2_Missense_Mutation_p.P652L|SYNPO2_uc010inb.2_Missense_Mutation_p.P652L|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P580L	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	652	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TGGCCCCAGCCTGCCCCGTGG	0.582		NaN											0	0	0	0.004289	0	28	24				
PDE5A	8654	broad.mit.edu	37	4	120527872	120527872	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:120527872C>A	uc003idh.2	-	2	888	c.733G>T	c.(733-735)GCA>TCA	p.A245S	PDE5A_uc003idf.2_Missense_Mutation_p.A203S|PDE5A_uc003idg.2_Missense_Mutation_p.A193S	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	245	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACCTCATATGCATCTTTGATG	0.507		NaN											1	0	2.29192e-23	0.00361	2.63175e-23	39	44				
ANKRD50	57182	broad.mit.edu	37	4	125593360	125593360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:125593360G>A	uc003ifg.3	-	3	1338	c.1072C>T	c.(1072-1074)CTT>TTT	p.L358F	ANKRD50_uc011cgo.1_Missense_Mutation_p.L179F|ANKRD50_uc010inw.2_Missense_Mutation_p.L358F	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	358										central_nervous_system(1)	1						CAGGCTGCAAGAATCACATTC	0.383		NaN											0	0	0	0.010818	0	25	50				
INPP4B	8821	broad.mit.edu	37	4	143007320	143007320	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:143007320C>T	uc003iix.3	-	25	3059	c.2464G>A	c.(2464-2466)GAA>AAA	p.E822K	INPP4B_uc003iiw.3_Missense_Mutation_p.E822K|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E637K|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	822					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					CACATAATTTCTACATTCTTT	0.358		NaN											0	0	0	0.004007	0	11	8				
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:156634314C>T	uc003iov.2	+	8	1687	c.1151C>T	c.(1150-1152)TCA>TTA	p.S384L	GUCY1A3_uc010iqc.2_Missense_Mutation_p.S384L|GUCY1A3_uc003iow.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S383L|GUCY1A3_uc003iox.2_Missense_Mutation_p.S384L|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S384L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTTTGGGGTCACCCTGTGTG	0.428		NaN											0	0	0	0.010504	0	18	32				
TMEM144	55314	broad.mit.edu	37	4	159174635	159174635	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:159174635A>G	uc003ipx.2	+	13	1514	c.994A>G	c.(994-996)ATC>GTC	p.I332V	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	332	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGCATTTTGCATCATCTTGAC	0.378		NaN											0	0	0	0.00623	0	27	62				
ADAM29	11086	broad.mit.edu	37	4	175898028	175898028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:175898028C>G	uc003iuc.2	+	5	2022	c.1352C>G	c.(1351-1353)TCA>TGA	p.S451*	ADAM29_uc003iud.2_Nonsense_Mutation_p.S451*|ADAM29_uc010irr.2_Nonsense_Mutation_p.S451*|ADAM29_uc011cki.1_Nonsense_Mutation_p.S451*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	451	Disintegrin.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCTACCATCAGGGAAAGTG	0.443		NaN											0	0	0	0.002299	0	15	29				
WDR17	116966	broad.mit.edu	37	4	177089822	177089822	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:177089822G>A	uc003iuj.2	+	25	3263	c.3107G>A	c.(3106-3108)AGG>AAG	p.R1036K	WDR17_uc003iuk.2_Missense_Mutation_p.R1012K|WDR17_uc003ium.3_Splice_Site_p.W997_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.R247_splice	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1036										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACGTTAACAGGAATTTGGCA	0.338		NaN											0	0	0	0.010729	0	7	43				
CDKN2AIP	55602	broad.mit.edu	37	4	184367945	184367945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:184367945C>T	uc003ivp.1	+	3	1270	c.1108C>T	c.(1108-1110)CTA>TTA	p.L370L	CDKN2AIP_uc003ivq.1_Silent_p.L115L	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	370	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCTGCATCACTACTAGCTTC	0.488		NaN											0	0	0	0.00632	0	21	38				
SORBS2	8470	broad.mit.edu	37	4	186544731	186544731	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:186544731C>G	uc003iyl.2	-	13	2698	c.1840G>C	c.(1840-1842)GAG>CAG	p.E614Q	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E714Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E518Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E728Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	614						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGACCCCTCTAGGTGAATG	0.463		NaN											0	0	0	0.003271	0	29	23				
DNAH5	1767	broad.mit.edu	37	5	13753590	13753590	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:13753590G>A	uc003jfd.2	-	63	10666	c.10624C>T	c.(10624-10626)CTG>TTG	p.L3542L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3542					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCATTTAACAGAAGATCACGA	0.373		NaN							Kartagener_syndrome				0	0	0	0.007835	0	33	68				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:23527693T>C	uc003jgo.2	+	11	2678	c.2496T>C	c.(2494-2496)TAT>TAC	p.Y832Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGCCCTATGTCTGCAGGG	0.587		NaN								HNSCC(3;0.000094)			0	0	0	0.006214	0	6	161				
RNASEN	29102	broad.mit.edu	37	5	31431748	31431748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:31431748C>T	uc003jhg.2	-	25	3439	c.3080G>A	c.(3079-3081)GGG>GAG	p.G1027E	RNASEN_uc003jhh.2_Missense_Mutation_p.G990E|RNASEN_uc003jhi.2_Missense_Mutation_p.G990E	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1027	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AAGGTCAGGCCCGTGAGCATA	0.373		NaN											0	0	0	0.011902	0	30	48				
C9	735	broad.mit.edu	37	5	39288867	39288867	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:39288867C>G	uc003jlv.3	-	10	1692	c.1603G>C	c.(1603-1605)GAG>CAG	p.E535Q		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	535	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCAATTCCCTCAAATTTGAAT	0.348		NaN											0	0	0	0.00361	0	50	82				
PAIP1	10605	broad.mit.edu	37	5	43547879	43547879	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:43547879A>T	uc003job.2	-	3	819	c.572T>A	c.(571-573)GTT>GAT	p.V191D	PAIP1_uc003joa.2_Missense_Mutation_p.V112D|PAIP1_uc010ivp.2_Missense_Mutation_p.V112D|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.V79D	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	191	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					ATCTGTTGTAACACAACCATT	0.408		NaN											0	0	0	0.00361	0	56	63		Valid		
HCN1	348980	broad.mit.edu	37	5	45303881	45303881	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:45303881C>A	uc003jok.2	-	6	1463	c.1438G>T	c.(1438-1440)GAT>TAT	p.D480Y		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	480	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AAATTAGGATCCGCATTAGCA	0.383		NaN											1	0	1.21826e-31	0.00361	1.42594e-31	60	88				
GPR98	84059	broad.mit.edu	37	5	90101230	90101230	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90101230G>C	uc003kju.2	+	72	14887	c.14791G>C	c.(14791-14793)GAA>CAA	p.E4931Q	GPR98_uc003kjt.2_Missense_Mutation_p.E2637Q|GPR98_uc003kjw.2_Missense_Mutation_p.E592Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4931	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGGGTTAGAAATTCCTGA	0.453		NaN											0	0	0	0.00361	0	38	2				
GPR98	84059	broad.mit.edu	37	5	90106817	90106817	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90106817G>A	uc003kju.2	+	74	15836	c.15740G>A	c.(15739-15741)AGA>AAA	p.R5247K	GPR98_uc003kjt.2_Missense_Mutation_p.R2953K|GPR98_uc003kjw.2_Missense_Mutation_p.R908K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5247	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTATCCGAAGAACTGGTGGG	0.418		NaN											0	0	0	0.012213	0	31	0				
DMXL1	1657	broad.mit.edu	37	5	118440935	118440935	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:118440935A>G	uc003ksd.2	+	4	527	c.346A>G	c.(346-348)ATA>GTA	p.I116V	DMXL1_uc010jcl.1_Missense_Mutation_p.I116V|DMXL1_uc003ksc.1_Missense_Mutation_p.I116V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	116	WD 1.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCACACAATATAACCTGGGA	0.318		NaN											0	0	0	0.004289	0	27	23				
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:127674745C>A	uc003kuu.2	-	26	3791	c.3352G>T	c.(3352-3354)GAG>TAG	p.E1118*	FBN2_uc003kuv.2_Nonsense_Mutation_p.E1085*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1118	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458		NaN											1	0	1.67305e-13	0.00623	1.83567e-13	26	28				
LECT2	3950	broad.mit.edu	37	5	135288607	135288607	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:135288607C>A	uc003lbe.1	-	2	297	c.96G>T	c.(94-96)GAG>GAT	p.E32D		NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	32					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGTCCGGATCTCATTGGAAG	0.507		NaN											1	0	6.40141e-05	0.010729	6.55898e-05	8	283				
FAM13B	51306	broad.mit.edu	37	5	137347541	137347541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:137347541C>G	uc003lbz.2	-	5	998	c.464G>C	c.(463-465)AGA>ACA	p.R155T	FAM13B_uc003lcb.2_Missense_Mutation_p.R37T|FAM13B_uc003lca.2_Missense_Mutation_p.R155T	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	155	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GGCTAAAAATCTACACAGAAA	0.338		NaN											0	0	0	0.010818	0	24	25				
PCDHA6	56142	broad.mit.edu	37	5	140209923	140209923	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140209923G>A	uc003lho.2	+	1	2274	c.2247G>A	c.(2245-2247)TCG>TCA	p.S749S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S749S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	749	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.657		NaN											0	0	0	0.001168	0	3	52				
PCDHA8	56140	broad.mit.edu	37	5	140221688	140221688	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140221688T>A	uc003lhs.2	+	1	782	c.782T>A	c.(781-783)GTT>GAT	p.V261D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V261D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	261	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACAACAGTTATCAAACTG	0.408		NaN											0	0	0	0.008361	0	27	38				
PCDHA12	56137	broad.mit.edu	37	5	140255207	140255207	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140255207G>A	uc003lic.2	+	1	277	c.150G>A	c.(148-150)CAG>CAA	p.Q50Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.Q50Q	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	50	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCTCAGGACCTGGGGC	0.642		NaN											0	0	0	0.007291	0	21	35				
PCDHB16	57717	broad.mit.edu	37	5	140563833	140563833	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140563833A>G	uc003liv.2	+	1	2854	c.1699A>G	c.(1699-1701)AAC>GAC	p.N567D		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	567	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCTGCAGAACGGCTCCGC	0.711		NaN											0	0	0	0.004656	0	20	86				
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140573673C>T	uc003lix.2	+	1	1722	c.1548C>T	c.(1546-1548)CTC>CTT	p.L516L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	516	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.706		NaN											0	0	0	0.00361	0	76	224				
PCDHGA11	56105	broad.mit.edu	37	5	140800805	140800805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140800805G>A	uc003lkq.1	+	1	269	c.11G>A	c.(10-12)CGG>CAG	p.R4Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R4Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R4Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGAATCGGCTACAGCGC	0.592		NaN											0	0	0	0.004482	0	5	15				
ARAP3	64411	broad.mit.edu	37	5	141035204	141035204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141035204G>A	uc003llm.2	-	31	4172	c.4094C>T	c.(4093-4095)TCT>TTT	p.S1365F	ARAP3_uc003lll.2_Missense_Mutation_p.S316F|ARAP3_uc011dbe.1_Missense_Mutation_p.S1027F|ARAP3_uc003lln.2_Missense_Mutation_p.S1196F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1365					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CTGATTGGCAGAGAGGAGGGT	0.587		NaN											0	0	0	0.00499	0	13	74				
PCDH1	5097	broad.mit.edu	37	5	141243228	141243228	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141243228T>C	uc003llq.2	-	3	2785	c.2668A>G	c.(2668-2670)AAG>GAG	p.K890E	PCDH1_uc003llp.2_Missense_Mutation_p.K890E|PCDH1_uc011dbf.1_Missense_Mutation_p.K868E	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	890	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTCTCCTTCTTACCAGCCTGG	0.587		NaN											0	0	0	0.00361	0	92	97				
SLC6A7	6534	broad.mit.edu	37	5	149585112	149585112	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:149585112G>A	uc003lrr.2	+	13	1998	c.1627G>A	c.(1627-1629)GGC>AGC	p.G543S		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	543	Helical; Name=12; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATCCTGATGGGCCTGCTGTC	0.612		NaN											0	0	0	0.00361	0	60	47				
SYNPO	11346	broad.mit.edu	37	5	150029566	150029566	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:150029566A>C	uc003lsn.2	+	3	2835	c.2461A>C	c.(2461-2463)ATC>CTC	p.I821L	SYNPO_uc003lso.3_Missense_Mutation_p.I577L|SYNPO_uc003lsp.2_Missense_Mutation_p.I577L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	821	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCACCTATCAAGGAGCC	0.652		NaN											0	0	0	0.00361	0	46	52				
IL12B	3593	broad.mit.edu	37	5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:158750268G>T	uc003lxr.1	-	3	200	c.158C>A	c.(157-159)CCT>CAT	p.P53H		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	53	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTCTTCAGGGGTGTCACA	0.483		NaN											1	0	3.57192e-18	0.006122	4.03888e-18	14	17				
ZNF354A	6940	broad.mit.edu	37	5	178139071	178139071	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:178139071T>A	uc003mjj.2	-	5	2006	c.1808A>T	c.(1807-1809)GAG>GTG	p.E603V		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	603					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTAGGGGTCCTCTTCGATATG	0.348		NaN											0	0	0	0.00632	0	22	15				
MAPK9	5601	broad.mit.edu	37	5	179675979	179675979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:179675979C>T	uc003mls.3	-	6	881	c.610G>A	c.(610-612)GAG>AAG	p.E204K	MAPK9_uc003mlt.3_Missense_Mutation_p.E204K|MAPK9_uc010jlc.2_Missense_Mutation_p.E204K|MAPK9_uc003mlv.3_Missense_Mutation_p.E204K|MAPK9_uc011dgx.1_Missense_Mutation_p.E204K	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	204	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCGTTCTCTTTGTAGCCC	0.527		NaN											0	0	0	0.00361	0	248	343				
TBC1D7	51256	broad.mit.edu	37	6	13327121	13327121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:13327121C>G	uc003naj.2	-	2	101	c.10G>C	c.(10-12)GAC>CAC	p.D4H	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.D4H|TBC1D7_uc003nal.2_Missense_Mutation_p.D4H|TBC1D7_uc003nam.2_Missense_Mutation_p.D4H|TBC1D7_uc003nao.2_Missense_Mutation_p.D4H|TBC1D7_uc010jpd.2_Missense_Mutation_p.D4H|TBC1D7_uc003nap.2_Missense_Mutation_p.D4H|TBC1D7_uc003naq.2_Missense_Mutation_p.D4H	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	4					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTCTGAGAGTCCTCAGTCATA	0.383		NaN											0	0	0	0.001168	0	4	22				
KDM1B	221656	broad.mit.edu	37	6	18222170	18222170	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:18222170A>G	uc003nco.1	+	15	1882	c.1807A>G	c.(1807-1809)ACA>GCA	p.T603A	KDM1B_uc003ncn.1_Missense_Mutation_p.T574A|KDM1B_uc003ncp.1_Missense_Mutation_p.T159A|KDM1B_uc003ncq.1_Missense_Mutation_p.Y157C	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	806					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						ACAAACTGTTACAGGGGCATA	0.398		NaN											0	0	0	0.010729	0	7	136				
RNF39	80352	broad.mit.edu	37	6	30043128	30043128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30043128C>T	uc003npe.2	-	1	501	c.439G>A	c.(439-441)GTG>ATG	p.V147M	RNF39_uc003npd.2_Missense_Mutation_p.V147M	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	147						cytoplasm	zinc ion binding				0						GCCAGCCGCACATTAGACCTC	0.751		NaN											0	0	0	0.008291	0	8	0				
MUC21	394263	broad.mit.edu	37	6	30954960	30954960	+	Silent	SNP	C	C	T	rs41288683		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30954960C>T	uc003nsh.2	+	2	1259	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	336	Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTGAGTCCAGCACGACCTCCA	0.627		NaN											0	0	0	0.009535	0	9	376				
MICB	4277	broad.mit.edu	37	6	31473433	31473433	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:31473433A>G	uc003ntn.3	+	2	226	c.110A>G	c.(109-111)CAG>CGG	p.Q37R	MICB_uc011dnm.1_Missense_Mutation_p.Q5R|MICB_uc003nto.3_Missense_Mutation_p.Q37R	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	37	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						GTGCTGTCCCAGGATGGATCT	0.522		NaN											0	0	0	0.009096	0	3	124				
COL11A2	1302	broad.mit.edu	37	6	33141522	33141522	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:33141522C>T	uc003ocx.1	-	35	2812	c.2584G>A	c.(2584-2586)GGA>AGA	p.G862R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G776R|COL11A2_uc003ocz.1_Missense_Mutation_p.G755R	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	862	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCAGATGTTCCCTGTGGGGGG	0.642		NaN											0	0	0	0.002299	0	18	0				
GRM4	2914	broad.mit.edu	37	6	34003490	34003490	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:34003490C>A	uc003oir.3	-	8	2567	c.2397G>T	c.(2395-2397)CTG>CTT	p.L799L	GRM4_uc011dsn.1_Silent_p.L752L|GRM4_uc010jvh.2_Silent_p.L799L|GRM4_uc010jvi.2_Silent_p.L491L|GRM4_uc003oio.2_Silent_p.L491L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L659L|GRM4_uc003oiq.2_Silent_p.L666L|GRM4_uc011dsm.1_Silent_p.L630L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	799	Helical; Name=6; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGATGAAGGCCAGCCAGACGA	0.622		NaN											1	0	4.13886e-29	0.00361	4.81061e-29	46	2				
FKBP5	2289	broad.mit.edu	37	6	35586902	35586902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:35586902G>C	uc011dte.1	-	5	682	c.479C>G	c.(478-480)TCA>TGA	p.S160*	FKBP5_uc003okx.2_Nonsense_Mutation_p.S160*|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Nonsense_Mutation_p.S160*|FKBP5_uc003okz.2_Nonsense_Mutation_p.S160*	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	160	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTTTGGATTTGAATATCCCTC	0.383		NaN											0	0	0	0.00361	0	47	4				
MTCH1	23787	broad.mit.edu	37	6	36937845	36937845	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:36937845C>G	uc003ond.1	-	11	1068	c.1068G>C	c.(1066-1068)TGG>TGC	p.W356C	MTCH1_uc003onc.1_Missense_Mutation_p.W339C|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.W356C|MTCH1_uc011dtt.1_Missense_Mutation_p.W171C	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	356					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						AGCAGTGAATCCAGGATTTGA	0.552		NaN											0	0	0	0.00361	0	54	3				
TSPO2	222642	broad.mit.edu	37	6	41010863	41010863	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:41010863T>C	uc003opj.2	+	2	440	c.139T>C	c.(139-141)TTG>CTG	p.L47L	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.Y56Y|TSPO2_uc011dub.1_Silent_p.L47L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	47	Helical; (Potential).				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0						CAAAGTCTTATTGCTTGTACA	0.537		NaN											0	0	0	0.00361	0	43	89				
GUCA1B	2979	broad.mit.edu	37	6	42156424	42156424	+	Missense_Mutation	SNP	C	C	T	rs147956742	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:42156424C>T	uc003orz.2	-	2	389	c.253G>A	c.(253-255)GTG>ATG	p.V85M		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	85	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCCTCAGCACGAGATTCAGA	0.547		NaN											0	0	0	0.008291	0	9	22				
CENPQ	55166	broad.mit.edu	37	6	49448703	49448703	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:49448703A>T	uc003ozh.1	+	6	476	c.387A>T	c.(385-387)AAA>AAT	p.K129N		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	129					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2	Lung NSC(77;0.0128)					TCCCTCCCAAAAAGATGGAAG	0.303		NaN											0	0	0	0.008871	0	13	26				
MCM3	4172	broad.mit.edu	37	6	52141909	52141909	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:52141909G>A	uc003pan.1	-	8	1231	c.1121C>T	c.(1120-1122)TCT>TTT	p.S374F	MCM3_uc011dwu.1_Missense_Mutation_p.S328F	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	374	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					ACCCACTCCAGAGGAGCCCCG	0.602		NaN											0	0	0	0.008871	0	16	30				
B3GAT2	135152	broad.mit.edu	37	6	71665987	71665987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:71665987C>T	uc003pfv.2	-	1	802	c.146G>A	c.(145-147)GGC>GAC	p.G49D	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.G49D	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	49	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTCGGGCGCCCCCGCGGCC	0.711		NaN											0	0	0	0.001168	0	5	2				
OGFRL1	79627	broad.mit.edu	37	6	72011571	72011571	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:72011571G>A	uc003pfx.1	+	7	1338	c.1175G>A	c.(1174-1176)AGA>AAA	p.R392K		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	392						membrane	receptor activity				0						GCCAAGCCAAGAAATACAGAG	0.448		NaN											0	0	0	0.010729	0	9	14				
DOPEY1	23033	broad.mit.edu	37	6	83835289	83835289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:83835289G>A	uc003pjs.1	+	15	1816	c.1556G>A	c.(1555-1557)AGC>AAC	p.S519N	DOPEY1_uc011dyy.1_Missense_Mutation_p.S510N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S510N	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	519					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCTTGACAAGCCATCTCCAG	0.418		NaN											0	0	0	0.00361	0	43	82				
SPACA1	81833	broad.mit.edu	37	6	88775899	88775899	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88775899G>T	uc003pmn.2	+	7	849	c.732_splice	c.e7-1	p.W244_splice		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor							integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTCCAGGGCAGCAGTC	0.343		NaN											1	0	5.16669e-11	0.010729	5.57701e-11	10	31				
CNR1	1268	broad.mit.edu	37	6	88854586	88854586	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88854586C>A	uc011dzq.1	-	2	3971	c.408G>T	c.(406-408)CTG>CTT	p.L136L	CNR1_uc010kbz.2_Silent_p.L136L|CNR1_uc011dzr.1_Silent_p.L136L|CNR1_uc011dzs.1_Silent_p.L136L|CNR1_uc003pmq.3_Silent_p.L136L|CNR1_uc011dzt.1_Silent_p.L136L|CNR1_uc010kca.2_Silent_p.L103L	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	136	Helical; Name=1; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCACAGCACCAGGAGGTTCT	0.617		NaN											1	0	5.3912e-06	0.006122	5.55811e-06	12	7				
KIAA0776	23376	broad.mit.edu	37	6	97000455	97000455	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:97000455C>A	uc003por.2	+	18	2131	c.2083C>A	c.(2083-2085)CAG>AAG	p.Q695K	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	695					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CCTGTTGTTTCAGTTTTCAAC	0.423		NaN											1	0	9.39395e-14	0.00632	1.0324e-13	22	20				
TRDN	10345	broad.mit.edu	37	6	123759226	123759226	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123759226T>C	uc003pzj.1	-	12	1055	c.1033A>G	c.(1033-1035)ATT>GTT	p.I345V	TRDN_uc003pzk.1_Missense_Mutation_p.I346V|TRDN_uc003pzl.1_Missense_Mutation_p.I346V|uc003pzm.1_5'Flank	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	345	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TCCACATCAATGGCAGTTTCC	0.338		NaN											0	0	0	0.001984	0	5	0				
EYA4	2070	broad.mit.edu	37	6	133769307	133769307	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:133769307T>A	uc003qec.3	+	5	725	c.267T>A	c.(265-267)TCT>TCA	p.S89S	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Silent_p.S89S|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Silent_p.S89S|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACACCCCCTCTTCTGCAACAA	0.448		NaN											0	0	0	0.005524	0	28	23				
CNKSR3	154043	broad.mit.edu	37	6	154727695	154727695	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:154727695G>A	uc003qpy.2	-	13	1966	c.1461C>T	c.(1459-1461)CCC>CCT	p.P487P		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	487	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GCTCGGTCGTGGGTCTGGAGA	0.577		NaN											0	0	0	0.002836	0	31	23				
ARID1B	57492	broad.mit.edu	37	6	157222596	157222596	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:157222596G>T	uc003qqn.2	+	3	1802	c.1650G>T	c.(1648-1650)CCG>CCT	p.P550P	ARID1B_uc003qqo.2_Silent_p.P563P|ARID1B_uc003qqp.2_Silent_p.P550P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	608	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGCCCCCGCACCTCCCAC	0.617		NaN											1	0	3.52763e-06	0.00499	3.64248e-06	12	25				
RSPH3	83861	broad.mit.edu	37	6	159404769	159404769	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:159404769C>T	uc003qrx.2	-	4	1033	c.843G>A	c.(841-843)TTG>TTA	p.L281L	RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Silent_p.L281L	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	281										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTGGTCTGTCCAAAAATGCAT	0.393		NaN											0	0	0	0.005443	0	21	30				
LPA	4018	broad.mit.edu	37	6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:161022029C>A	uc003qtl.2	-	20	3167	c.3047G>T	c.(3046-3048)CGA>CTA	p.R1016L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3524	Kringle 31.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGAGCATCGTGTCAGGTT	0.498		NaN											1	0	1.10513e-12	0.002299	1.20461e-12	16	16				
T	6862	broad.mit.edu	37	6	166571949	166571949	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:166571949G>A	uc003quu.1	-	9	1655	c.1162C>T	c.(1162-1164)CAT>TAT	p.H388Y	T_uc003qut.1_Missense_Mutation_p.H389Y|T_uc003quv.1_Missense_Mutation_p.H330Y	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	388					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAGACCGGATGGGTGAGGGGT	0.716		NaN							Chordoma_Familial_Clustering_of				0	0	0	0.008871	0	14	12				
ICA1	3382	broad.mit.edu	37	7	8196838	8196838	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:8196838G>C	uc003srm.2	-	8	779	c.712C>G	c.(712-714)CTG>GTG	p.L238V	ICA1_uc010ktr.2_Missense_Mutation_p.L238V|ICA1_uc003srl.2_Missense_Mutation_p.L226V|ICA1_uc003srn.3_Missense_Mutation_p.L164V|ICA1_uc003srp.3_Missense_Mutation_p.L237V|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Missense_Mutation_p.L238V|ICA1_uc003srr.2_Missense_Mutation_p.L237V|ICA1_uc003sro.3_Missense_Mutation_p.L238V|ICA1_uc011jxg.1_Missense_Mutation_p.L238V|ICA1_uc003srs.1_Missense_Mutation_p.L238V	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	238	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAATGAAGCAGAGTGGTCTGC	0.393		NaN											0	0	0	0.010729	0	8	40				
ETV1	2115	broad.mit.edu	37	7	14026281	14026281	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:14026281C>G	uc011jxq.1	-	5	902	c.163G>C	c.(163-165)GAA>CAA	p.E55Q	ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.E55Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E55Q|ETV1_uc011jxs.1_Missense_Mutation_p.E55Q|ETV1_uc010ktv.2_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	55					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						AGCCATGTTTCCTGTAATTGA	0.323		NaN	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								0	0	0	0.004482	0	6	30				
ABCB5	340273	broad.mit.edu	37	7	20785059	20785059	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:20785059G>A	uc003suw.3	+	17	2638	c.2092G>A	c.(2092-2094)GAG>AAG	p.E698K	ABCB5_uc010kuh.2_Missense_Mutation_p.E1143K	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	698	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AGGTCTCCCTGAGGTAAGAAA	0.398		NaN											0	0	0	0.008291	0	9	13				
DNAH11	8701	broad.mit.edu	37	7	21826250	21826250	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:21826250C>T	uc003svc.2	+	60	9658	c.9627C>T	c.(9625-9627)CTC>CTT	p.L3209L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3209	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGGTCAACCTCAGTGAGCTGA	0.517		NaN							Kartagener_syndrome				0	0	0	0.005443	0	20	42				
DFNA5	1687	broad.mit.edu	37	7	24756952	24756952	+	Silent	SNP	G	G	A	rs142033677		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:24756952G>A	uc010kus.1	-	5	706	c.618C>T	c.(616-618)AAC>AAT	p.N206N	DFNA5_uc003swz.2_Silent_p.N42N|DFNA5_uc003sxa.1_Silent_p.N206N|DFNA5_uc010kut.1_Silent_p.N42N|DFNA5_uc003sxb.2_Silent_p.N206N	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	206					sensory perception of sound					ovary(1)	1						CCAGCACCACGTTGGAGTCCT	0.582		NaN											0	0	0	0.006999	0	32	17				
CREB5	9586	broad.mit.edu	37	7	28763907	28763907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:28763907T>A	uc003szq.2	+	7	1050	c.660T>A	c.(658-660)TGT>TGA	p.C220*	CREB5_uc003szo.2_Nonsense_Mutation_p.C187*|CREB5_uc003szr.2_Nonsense_Mutation_p.C213*|CREB5_uc003szs.2_Nonsense_Mutation_p.C81*|CREB5_uc011jzr.1_Nonsense_Mutation_p.C69*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	220					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GCAACCCCTGTGCTTCTCCCC	0.408		NaN											0	0	0	0.006122	0	12	27				
FAM188B	84182	broad.mit.edu	37	7	30831104	30831104	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:30831104C>G	uc003tbt.2	+	5	1064	c.987C>G	c.(985-987)CTC>CTG	p.L329L	FAM188B_uc010kwe.2_Silent_p.L300L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	329											0						CCTTGAAGCTCTACTTGCCTG	0.627		NaN											0	0	0	0.001368	0	10	35				
GHRHR	2692	broad.mit.edu	37	7	31014105	31014105	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:31014105G>A	uc003tbx.2	+	8	860	c.812_splice	c.e8+1	p.A271_splice	GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	AGGACATCGCGTGAGTCGGAG	0.617		NaN											0	0	0	0.010818	0	25	71				
POU6F2	11281	broad.mit.edu	37	7	39247149	39247149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:39247149C>A	uc003thb.1	+	4	483	c.441C>A	c.(439-441)ACC>ACA	p.T147T	POU6F2_uc010kxo.2_Silent_p.T139T	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	147					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CGAATCTCACCAACATCCAAG	0.552		NaN											1	0	3.52763e-06	0.00499	3.64248e-06	17	26				
TNS3	64759	broad.mit.edu	37	7	47408849	47408849	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:47408849T>A	uc003tnv.2	-	17	1761	c.1394A>T	c.(1393-1395)AAT>ATT	p.N465I	TNS3_uc003tnw.2_Missense_Mutation_p.N465I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	465						focal adhesion	protein binding			ovary(4)	4						AGCGTCTCCATTCACGTGAAC	0.582		NaN											0	0	0	0.00333	0	18	24				
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48081010C>T	uc003toh.3	+	3	347	c.135C>T	c.(133-135)AGC>AGT	p.S45S	C7orf57_uc003toi.3_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	45										ovary(1)	1						CAGGTCTCAGCAATTTGGGAG	0.537		NaN											0	0	0	0.004007	0	13	23				
ABCA13	154664	broad.mit.edu	37	7	48316091	48316091	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48316091A>G	uc003toq.2	+	17	6853	c.6828A>G	c.(6826-6828)CTA>CTG	p.L2276L	ABCA13_uc010kyr.2_Silent_p.L1779L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2276					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CCCTTTTTCTAAAGGAAGATT	0.343		NaN											0	0	0	0.001855	0	12	8				
IKZF1	10320	broad.mit.edu	37	7	50468169	50468169	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:50468169G>T	uc003tow.3	+	9	1572	c.1404G>T	c.(1402-1404)CGG>CGT	p.R468R	IKZF1_uc003tox.3_Silent_p.R426R|IKZF1_uc003toy.3_Silent_p.R426R|IKZF1_uc011kck.1_Silent_p.R381R|IKZF1_uc003toz.3_Silent_p.R438R|IKZF1_uc010kyx.2_Silent_p.R208R|IKZF1_uc003tpa.3_Silent_p.R210R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	468	C2H2-type 5.|Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACACTGCCGGGTGCTCTTCC	0.622		NaN	D		ALL								1	0	3.11337e-16	0.002836	3.47904e-16	22	14				
POM121L12	285877	broad.mit.edu	37	7	53103682	53103682	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:53103682C>G	uc003tpz.2	+	1	334	c.318C>G	c.(316-318)ACC>ACG	p.T106T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	106											0						CCGGGGAGACCGCTCTGGGGC	0.711		NaN											0	0	0	0.004482	0	8	15				
ZNF713	349075	broad.mit.edu	37	7	56006860	56006860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:56006860G>A	uc003trc.1	+	4	492	c.454G>A	c.(454-456)GGA>AGA	p.G152R	ZNF713_uc003tra.1_Missense_Mutation_p.G165R|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATATTTAGGACAAGTAAC	0.413		NaN											0	0	0	0.004007	0	12	11				
ZNF679	168417	broad.mit.edu	37	7	63721301	63721301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:63721301C>T	uc003tsx.2	+	4	525	c.256C>T	c.(256-258)CAC>TAC	p.H86Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGTAACCAAACACCCAGGTAA	0.428		NaN											0	0	0	0.004672	0	3	21				
SRRM3	222183	broad.mit.edu	37	7	75890733	75890733	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:75890733G>A	uc010ldi.2	+	7	847	c.638_splice	c.e7+1	p.R213_splice		NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						GCCGAGACAGGTACCCTTGCT	0.667		NaN											0	0	0	0.002299	0	16	1				
PION	54103	broad.mit.edu	37	7	76950709	76950709	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:76950709A>G	uc003ugf.2	-	25	2014	c.1935T>C	c.(1933-1935)ATT>ATC	p.I645I	PION_uc011kgo.1_Intron|PION_uc003ugd.2_Silent_p.I39I	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	645					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CGATGTGGCAAATGAGATCCA	0.453		NaN											0	0	0	0.00308	0	4	86				
MTERF	7978	broad.mit.edu	37	7	91503775	91503775	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:91503775A>T	uc003ulb.1	-	2	377	c.333T>A	c.(331-333)CTT>CTA	p.L111L	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L111L|MTERF_uc011khm.1_Silent_p.L91L|MTERF_uc010leu.1_Silent_p.L91L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	111					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTTTGGAAAGAAGGAACATCT	0.428		NaN											0	0	0	0.00361	0	93	40				
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:98256632C>T	uc003upl.2	+	4	1221	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677		NaN											0	0	0	0.00361	0	53	11				
ZNF394	84124	broad.mit.edu	37	7	99097527	99097527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:99097527G>A	uc003uqs.2	-	1	351	c.190C>T	c.(190-192)CGA>TGA	p.R64*	ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Nonsense_Mutation_p.R64*	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	64	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTGCAGTCGAGAAGTTTCG	0.627		NaN											0	0	0	0.001984	0	7	46				
GIGYF1	64599	broad.mit.edu	37	7	100280767	100280767	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100280767G>C	uc003uwg.1	-	19	3289	c.2280C>G	c.(2278-2280)CTC>CTG	p.L760L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	760										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGCCAGCCCAGAGTGGGGGCG	0.677		NaN											0	0	0	0.006214	0	8	1				
MUC17	140453	broad.mit.edu	37	7	100684490	100684490	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100684490A>G	uc003uxp.1	+	3	9846	c.9793A>G	c.(9793-9795)ACT>GCT	p.T3265A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3265	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCCTCCCACTGCTGAAGG	0.517		NaN											0	0	0	0.00361	0	516	155				
NAPEPLD	222236	broad.mit.edu	37	7	102743924	102743924	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:102743924C>G	uc003vbc.2	-	5	1462	c.1134G>C	c.(1132-1134)TTG>TTC	p.L378F	NAPEPLD_uc003vbd.2_Missense_Mutation_p.L378F|NAPEPLD_uc011klj.1_Missense_Mutation_p.L451F|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	378					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						CTCCATGCTTCAAGACAAAAA	0.348		NaN											0	0	0	0.003163	0	14	7				
MLL5	55904	broad.mit.edu	37	7	104731675	104731675	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:104731675A>G	uc003vcm.2	+	15	2170	c.1636A>G	c.(1636-1638)ATT>GTT	p.I546V	MLL5_uc003vcl.2_Missense_Mutation_p.I546V|MLL5_uc010ljc.2_Missense_Mutation_p.I546V	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	546					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ACCAGATTTTATTGATGATAT	0.318		NaN											0	0	0	0.004672	0	3	10				
CADPS2	93664	broad.mit.edu	37	7	122377026	122377026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:122377026C>T	uc010lkp.2	-	2	599	c.436G>A	c.(436-438)GTT>ATT	p.V146I	CADPS2_uc010lkq.2_Missense_Mutation_p.V146I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	146					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TAACTCCGAACTGCGTTGCAA	0.378		NaN											0	0	0	0.001855	0	10	16				
AHCYL2	23382	broad.mit.edu	37	7	129040163	129040163	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:129040163G>C	uc011kov.1	+	6	910	c.856G>C	c.(856-858)GAA>CAA	p.E286Q	AHCYL2_uc003vot.2_Missense_Mutation_p.E285Q|AHCYL2_uc003vov.2_Missense_Mutation_p.E183Q|AHCYL2_uc011kow.1_Missense_Mutation_p.E184Q|AHCYL2_uc011kox.1_Missense_Mutation_p.E183Q	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	286					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GGGAGAGTCAGAAGATGACTT	0.448		NaN											0	0	0	0.002299	0	19	43				
LRGUK	136332	broad.mit.edu	37	7	133812382	133812382	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:133812382G>A	uc003vrm.1	+	1	278	c.262G>A	c.(262-264)GAG>AAG	p.E88K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	88							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GGCGGGATCCGAGGAGTCCTC	0.617		NaN											0	0	0	0.012213	0	22	39				
SMARCD3	6604	broad.mit.edu	37	7	150939810	150939810	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:150939810C>T	uc003wjs.2	-	4	554	c.453G>A	c.(451-453)ATG>ATA	p.M151I	SMARCD3_uc003wjt.2_Missense_Mutation_p.M138I|SMARCD3_uc003wju.2_Missense_Mutation_p.M138I|SMARCD3_uc011kvh.1_Missense_Mutation_p.M151I|SMARCD3_uc010lqa.1_Missense_Mutation_p.M151I	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	151					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGCACCTTCATGGGCCTCT	0.577		NaN											0	0	0	0.00361	0	54	127				
DPP6	1804	broad.mit.edu	37	7	154598703	154598703	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:154598703G>T	uc003wlk.2	+	16	1677	c.1548_splice	c.e16-1	p.S516_splice	DPP6_uc003wli.2_Splice_Site_p.S452_splice|DPP6_uc003wlm.2_Splice_Site_p.S454_splice|DPP6_uc011kvq.1_Splice_Site_p.S409_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGCTCTTCCAGTGCCAACACG	0.597		NaN											1	0	2.04263e-09	0.004289	2.16969e-09	33	54				
VIPR2	7434	broad.mit.edu	37	7	158851235	158851235	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:158851235G>T	uc003woh.2	-	5	578	c.392C>A	c.(391-393)ACC>AAC	p.T131N	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	131	Helical; Name=1; (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTAGCCCAGTGTATAAATGGC	0.413		NaN											1	0	2.19489e-29	0.00623	2.55559e-29	27	58				
PTK2B	2185	broad.mit.edu	37	8	27277583	27277583	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:27277583G>A	uc003xfn.1	+	8	1184	c.376G>A	c.(376-378)GAG>AAG	p.E126K	PTK2B_uc003xfo.1_Missense_Mutation_p.E126K|PTK2B_uc003xfp.1_Missense_Mutation_p.E126K|PTK2B_uc003xfq.1_Missense_Mutation_p.E126K	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	126	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CGTGGAAGCCGAGTGGAGGTA	0.582		NaN											0	0	0	0.00623	0	29	26				
ANK1	286	broad.mit.edu	37	8	41525865	41525865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:41525865G>T	uc003xok.2	-	39	5398	c.5314C>A	c.(5314-5316)CAG>AAG	p.Q1772K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q926K|ANK1_uc003xoi.2_Missense_Mutation_p.Q1772K|ANK1_uc003xoj.2_Missense_Mutation_p.Q1772K|ANK1_uc003xol.2_Missense_Mutation_p.Q1610K|ANK1_uc003xom.2_Missense_Mutation_p.Q1813K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1772	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGTCGGCCTGGGAGCTCTCA	0.617		NaN											1	0	1.61788e-16	0.012213	1.81094e-16	29	22				
PRKDC	5591	broad.mit.edu	37	8	48694764	48694764	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:48694764A>G	uc003xqi.2	-	81	11505	c.11448T>C	c.(11446-11448)CTT>CTC	p.L3816L	PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3816	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGTGTTCAAAAGAAGGTCCT	0.502		NaN						NHEJ					0	0	0	0.004482	0	8	50				
SLCO5A1	81796	broad.mit.edu	37	8	70744123	70744123	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:70744123G>T	uc003xyl.2	-	2	1493	c.786C>A	c.(784-786)GTC>GTA	p.V262V	SLCO5A1_uc010lzb.2_Silent_p.V262V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.V262V|SLCO5A1_uc010lzc.2_Silent_p.V262V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	262	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGCCACGTAGACCCAGTGAT	0.542		NaN											1	0	1.05386e-31	0.00361	1.23568e-31	40	16				
TRPA1	8989	broad.mit.edu	37	8	72981302	72981302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:72981302G>A	uc003xza.2	-	3	575	c.400C>T	c.(400-402)CCT>TCT	p.P134S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	134	Cytoplasmic (Potential).|ANK 3.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATGTGGAGAGGAGCCATCATG	0.512		NaN											0	0	0	0.00361	0	110	190				
ZFHX4	79776	broad.mit.edu	37	8	77765656	77765656	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:77765656G>T	uc003yav.2	+	10	6751	c.6364G>T	c.(6364-6366)GGC>TGC	p.G2122C	ZFHX4_uc003yau.1_Missense_Mutation_p.G2167C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2122C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2122	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGAAATCTGGCCTCTCCCA	0.368		NaN								HNSCC(33;0.089)			1	0	4.96729e-08	0.008871	5.20979e-08	19	17				
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:93004034C>A	uc003yfd.2	-	6	908	c.824G>T	c.(823-825)CGG>CTG	p.R275L	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R248L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R238L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R248L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R286L|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R238L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	275					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGACTGTACCGCTGGCCTGG	0.512		NaN											1	0	4.87955e-14	0.005443	5.37154e-14	22	23				
PKHD1L1	93035	broad.mit.edu	37	8	110410761	110410761	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:110410761C>G	uc003yne.2	+	12	1100	c.996C>G	c.(994-996)CTC>CTG	p.L332L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	332	Extracellular (Potential).|IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATATTCTCAAAACTGTAT	0.294		NaN								HNSCC(38;0.096)			0	0	0	0.00308	0	5	12				
CSMD3	114788	broad.mit.edu	37	8	113299303	113299303	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:113299303T>C	uc003ynu.2	-	58	9480	c.9321A>G	c.(9319-9321)CCA>CCG	p.P3107P	CSMD3_uc003yns.2_Silent_p.P2309P|CSMD3_uc003ynt.2_Silent_p.P3067P|CSMD3_uc011lhx.1_Silent_p.P2938P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3107	Extracellular (Potential).|Sushi 22.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTTGCACTCTGGCTGCCTTC	0.378		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.00308	0	6	133				
KCNK9	51305	broad.mit.edu	37	8	140715046	140715046	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:140715046G>A	uc003yvf.1	-	1	254	c.190C>T	c.(190-192)CTG>TTG	p.L64L	KCNK9_uc003yvg.1_Silent_p.L64L	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	64	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGATCACCAGCTCCAGCTGC	0.597		NaN											0	0	0	0.00333	0	21	27				
CHRAC1	54108	broad.mit.edu	37	8	141524510	141524510	+	Missense_Mutation	SNP	G	G	T	rs143839289		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:141524510G>T	uc003yvl.2	+	2	388	c.190G>T	c.(190-192)GGC>TGC	p.G64C	CHRAC1_uc010mem.1_Intron	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	64					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(1)	1	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTACAGACACGGCAGTGGAAA	0.383		NaN											1	0	7.41945e-09	0.005443	7.8186e-09	19	11				
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:142441037G>T	uc003ywg.1	+	5	749	c.415G>T	c.(415-417)GGA>TGA	p.G139*	PTP4A3_uc003ywh.1_Nonsense_Mutation_p.G114*|PTP4A3_uc010met.1_Silent_p.A52A	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597		NaN											1	0	1.96292e-10	0.010504	2.10516e-10	17	23				
PPP1R16A	84988	broad.mit.edu	37	8	145727093	145727093	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:145727093C>T	uc003zdd.2	+	11	2307	c.1394C>T	c.(1393-1395)GCT>GTT	p.A465V	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A465V|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	465						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCGAGCTGCTGCCAAGCTG	0.692		NaN											0	0	0	0.001984	0	5	7				
MPDZ	8777	broad.mit.edu	37	9	13107098	13107098	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:13107098C>T	uc010mhy.2	-	45	6043	c.5992G>A	c.(5992-5994)GAA>AAA	p.E1998K	MPDZ_uc003zkx.3_Missense_Mutation_p.E222K|MPDZ_uc003zky.3_Missense_Mutation_p.E561K|MPDZ_uc010mib.2_Missense_Mutation_p.E732K|MPDZ_uc010mhx.2_Missense_Mutation_p.E849K|MPDZ_uc011lmm.1_Missense_Mutation_p.E886K|MPDZ_uc003zkz.3_Missense_Mutation_p.E720K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1994K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1965K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1998K	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2027	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCCGTCTTCAGAGGCTGCT	0.433		NaN											0	0	0	0.003954	0	21	90				
CER1	9350	broad.mit.edu	37	9	14720287	14720287	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:14720287G>T	uc003zlj.2	-	2	650	c.605C>A	c.(604-606)TCC>TAC	p.S202Y		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	202	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGGTATGGGAGTGCTGCGC	0.502		NaN											1	0	1.80694e-10	0.009535	1.94101e-10	25	98				
TOPORS	10210	broad.mit.edu	37	9	32544067	32544067	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:32544067C>T	uc003zrb.2	-	3	623	c.456G>A	c.(454-456)GTG>GTA	p.V152V	TOPORS_uc003zrc.2_Silent_p.V85V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	152	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTCTGCCCTCACAGAATGGA	0.428		NaN											0	0	0	0.00333	0	22	72				
DNAI1	27019	broad.mit.edu	37	9	34514538	34514538	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:34514538C>G	uc003zum.2	+	17	1909	c.1716C>G	c.(1714-1716)ATC>ATG	p.I572M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	572	WD 3.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACCACACCATCAAGTGAGGGG	0.597		NaN							Kartagener_syndrome				0	0	0	0.00361	0	56	42				
PIGO	84720	broad.mit.edu	37	9	35090170	35090170	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35090170C>G	uc003zwd.2	-	9	3358	c.2962G>C	c.(2962-2964)GAG>CAG	p.E988Q	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.E571Q|PIGO_uc003zwf.2_Missense_Mutation_p.E571Q|PIGO_uc003zwg.1_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	988					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCTTCCTCCTCGGGTCTG	0.597		NaN											0	0	0	0.001368	0	13	53				
NPR2	4882	broad.mit.edu	37	9	35792645	35792645	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35792645A>G	uc003zyd.2	+	1	240	c.240A>G	c.(238-240)GCA>GCG	p.A80A	NPR2_uc010mlb.2_Silent_p.A80A	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	80	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGTACCTGGCACCGCTGAGCG	0.657		NaN											0	0	0	0.008871	0	16	105				
FRMPD1	22844	broad.mit.edu	37	9	37745551	37745551	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:37745551A>T	uc004aag.1	+	16	3566	c.3522A>T	c.(3520-3522)CCA>CCT	p.P1174P	FRMPD1_uc004aah.1_Silent_p.P1174P	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1174						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGCAGATCCCACCACATCCCC	0.478		NaN											0	0	0	0.001168	0	6	25				
FAM75A6	389730	broad.mit.edu	37	9	43627203	43627203	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:43627203G>T	uc011lrb.1	-	4	1513	c.1484C>A	c.(1483-1485)GCT>GAT	p.A495D		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	495						integral to membrane					0						ATGGGCCTGAGCCTCGGCCTG	0.542		NaN											1	0	1.06012e-137	0.00361	1.27214e-137	277	449				
PTAR1	375743	broad.mit.edu	37	9	72333393	72333393	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:72333393C>A	uc004ahj.3	-	8	1096	c.1074G>T	c.(1072-1074)CGG>CGT	p.R358R	PTAR1_uc004ahi.2_Silent_p.R306R	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	358					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						GAACTGGCGTCCGCTTCAGGC	0.522		NaN											1	0	2.39556e-15	0.00278	2.65908e-15	19	20				
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:80043925C>T	uc004aku.2	-	5	1144	c.621G>A	c.(619-621)TCG>TCA	p.S207S		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	207					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TCCGTCTTTCCGATCGTTGGC	0.453		NaN											0	0	0	0.00361	0	112	71				
TLE1	7088	broad.mit.edu	37	9	84230944	84230944	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:84230944C>T	uc004aly.2	-	11	1312	c.871G>A	c.(871-873)GCC>ACC	p.A291T	TLE1_uc004alz.2_Missense_Mutation_p.A301T|TLE1_uc011lsr.1_Missense_Mutation_p.A291T|TLE1_uc004ama.1_Missense_Mutation_p.A291T|TLE1_uc011lss.1_Missense_Mutation_p.A217T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	291	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GCCGAGGAGGCCGTGGAAGCT	0.488		NaN											0	0	0	0.004289	0	32	16				
KIF27	55582	broad.mit.edu	37	9	86518142	86518142	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:86518142G>A	uc004ana.2	-	4	1435	c.1291C>T	c.(1291-1293)CTA>TTA	p.L431L	KIF27_uc010mpw.2_Silent_p.L431L|KIF27_uc010mpx.2_Silent_p.L431L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	431					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TTTTCGTTTAGTCTGACAGTA	0.473		NaN											0	0	0	0.001368	0	10	21				
DAPK1	1612	broad.mit.edu	37	9	90266558	90266558	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90266558C>T	uc004apc.2	+	17	1881	c.1743C>T	c.(1741-1743)CTC>CTT	p.L581L	DAPK1_uc004apd.2_Silent_p.L581L|DAPK1_uc011ltg.1_Silent_p.L581L|DAPK1_uc011lth.1_Silent_p.L318L|DAPK1_uc004apf.1_Silent_p.L135L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	581	ANK 7.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ATACTCCCCTCCATGTGGCAT	0.493		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	0.000602	0	4	66				
FAM75C1	441452	broad.mit.edu	37	9	90536698	90536698	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90536698G>A	uc010mqi.2	+	4	1905	c.1876G>A	c.(1876-1878)GCA>ACA	p.A626T	FAM75C1_uc004apq.3_Missense_Mutation_p.A609T	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						CAGCAATCTAGCAGCCCCGAA	0.537		NaN											0	0	0	0.002836	0	29	62				
NCBP1	4686	broad.mit.edu	37	9	100433475	100433475	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:100433475G>A	uc004axq.2	+	23	2826	c.2367G>A	c.(2365-2367)CAG>CAA	p.Q789Q		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	789					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				GTGCCCTGCAGGCCTAAGGGT	0.393		NaN											0	0	0	0.010729	0	10	26				
FKBP15	23307	broad.mit.edu	37	9	115931551	115931551	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:115931551T>A	uc004bgs.2	-	26	3556	c.3438A>T	c.(3436-3438)ACA>ACT	p.T1146T	FKBP15_uc004bgr.2_Silent_p.T583T|FKBP15_uc011lxc.1_Silent_p.T727T|FKBP15_uc011lxd.1_Silent_p.T1078T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1146					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CTCCTGCAACTGTGGAACCTG	0.562		NaN											0	0	0	0.003163	0	11	32				
RPL35	11224	broad.mit.edu	37	9	127623766	127623766	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:127623766C>T	uc004boy.1	-	2	121	c.72G>A	c.(70-72)CTG>CTA	p.L24L	ARPC5L_uc004boz.1_5'Flank	NM_007209	NP_009140	P42766	RL35_HUMAN	ribosomal protein L35	24					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			ovary(1)	1				GBM - Glioblastoma multiforme(294;0.182)		GCTCCACCTTCAGGTCGTCCA	0.612		NaN											0	0	0	0.00361	0	44	10				
BARHL1	56751	broad.mit.edu	37	9	135458598	135458598	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:135458598A>G	uc004cbp.1	+	1	606	c.414A>G	c.(412-414)AGA>AGG	p.R138R		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	138						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGGACTTTAGAGACAAGCTGG	0.582		NaN											0	0	0	0.004007	0	15	2				
COL5A1	1289	broad.mit.edu	37	9	137687131	137687131	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:137687131C>G	uc004cfe.2	+	34	3151	c.2769C>G	c.(2767-2769)CCC>CCG	p.P923P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	923	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAAGAGGCCCCCGGGGCATCA	0.632		NaN											0	0	0	0.003163	0	12	63				
KCNT1	57582	broad.mit.edu	37	9	138675901	138675901	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:138675901T>A	uc011mdq.1	+	25	2947	c.2873T>A	c.(2872-2874)TTC>TAC	p.F958Y	KCNT1_uc011mdr.1_Missense_Mutation_p.F785Y|KCNT1_uc010nbf.2_Missense_Mutation_p.F913Y|KCNT1_uc004cgo.1_Missense_Mutation_p.F707Y	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	958						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCTGGCCTTCATGTTCCGC	0.662		NaN											0	0	0	0.00361	0	67	23				
SFRS17A	8227	broad.mit.edu	37	X	1719725	1719725	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:1719725G>T	uc004cqa.2	+	5	1522	c.1326G>T	c.(1324-1326)CTG>CTT	p.L442L	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	442	PKA-RI-alpha subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAGCATCCTGCTGAGCAAGA	0.692		NaN											1	0	3.86212e-05	0.008291	3.96328e-05	5	8				
ZBED1	9189	broad.mit.edu	37	X	2407722	2407722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:2407722C>T	uc004cqg.2	-	2	1240	c.1039G>A	c.(1039-1041)GTG>ATG	p.V347M	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V347M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	347						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTTGCTCACCAGCATGCAG	0.617		NaN											0	0	0	0.012319	0	20	13				
CLCN4	1183	broad.mit.edu	37	X	10155598	10155598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:10155598G>T	uc004csy.3	+	4	618	c.188G>T	c.(187-189)AGC>ATC	p.S63I	CLCN4_uc011mid.1_Intron	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	63	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTCATCAAGAGCCTGCTGGAT	0.542		NaN											1	0	8.60899e-122	0.00361	1.03122e-121	184	8				
NHS	4810	broad.mit.edu	37	X	17739625	17739625	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:17739625A>G	uc004cxx.2	+	4	1255	c.917A>G	c.(916-918)CAC>CGC	p.H306R	NHS_uc011mix.1_Missense_Mutation_p.H327R|NHS_uc004cxy.2_Missense_Mutation_p.H150R|NHS_uc004cxz.2_Missense_Mutation_p.H129R|NHS_uc004cya.2_Missense_Mutation_p.H29R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	306						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AACCCAATACACAATATCCCT	0.483		NaN											0	0	0	0.00361	0	67	2				
PTCHD1	139411	broad.mit.edu	37	X	23411277	23411277	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:23411277T>A	uc004dal.3	+	3	1650	c.1642T>A	c.(1642-1644)TAC>AAC	p.Y548N		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	548					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CCAGCAAAAGTACTTCAGCAA	0.433		NaN											0	0	0	0.00278	0	18	59				
MAGEB2	4113	broad.mit.edu	37	X	30237164	30237164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:30237164C>G	uc004dbz.2	+	2	570	c.467C>G	c.(466-468)GCC>GGC	p.A156G		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	156	MAGE.						protein binding			ovary(1)	1						CTCAAGAAAGCCTCTGAGGGC	0.448		NaN											0	0	0	0.006214	0	8	0				
CASK	8573	broad.mit.edu	37	X	41437603	41437603	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:41437603T>C	uc004dfl.3	-	15	1539	c.1493A>G	c.(1492-1494)GAT>GGT	p.D498G	CASK_uc004dfj.3_Missense_Mutation_p.D61G|CASK_uc004dfk.3_Missense_Mutation_p.D313G|CASK_uc004dfm.3_Missense_Mutation_p.D498G|CASK_uc004dfn.3_Missense_Mutation_p.D492G	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	498	PDZ.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						CATTGGTTCATCTGTGTTCTT	0.413		NaN											0	0	0	0.009718	0	36	0				
RRAGB	10325	broad.mit.edu	37	X	55777615	55777615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:55777615G>T	uc004dup.2	+	7	1333	c.682G>T	c.(682-684)GAA>TAA	p.E228*	RRAGB_uc004duq.2_Nonsense_Mutation_p.E200*	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	228					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TATCTGGGATGAAACCCTCTA	0.363		NaN											1	0	2.54575e-18	0.010504	2.88345e-18	14	0				
OPHN1	4983	broad.mit.edu	37	X	67431998	67431998	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:67431998T>C	uc004dww.3	-	8	948	c.654A>G	c.(652-654)ACA>ACG	p.T218T	OPHN1_uc011mpg.1_Silent_p.T218T|OPHN1_uc004dwx.2_Silent_p.T218T	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	218					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GGAAATCCTGTGTGAGCTCCA	0.403		NaN											0	0	0	0.007413	0	13	1				
ACRC	93953	broad.mit.edu	37	X	70823918	70823918	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:70823918C>T	uc004eae.2	+	8	1292	c.791C>T	c.(790-792)GCT>GTT	p.A264V	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	264	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GATTCGGAAGCTCCCGACGAC	0.557		NaN											0	0	0	0.008291	0	3	39				
ZMAT1	84460	broad.mit.edu	37	X	101153125	101153125	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:101153125A>T	uc011mrl.1	-	4	608	c.297T>A	c.(295-297)GGT>GGA	p.G99G	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 1	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1						TCATTTTCTTACCAGGCACTT	0.313		NaN											0	0	0	0.008361	0	22	0				
PLS3	5358	broad.mit.edu	37	X	114871237	114871237	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:114871237C>G	uc004eqd.2	+	8	1228	c.838C>G	c.(838-840)CAT>GAT	p.H280D	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.H258D|PLS3_uc004eqe.2_Missense_Mutation_p.H280D|PLS3_uc011mtg.1_Missense_Mutation_p.H253D|PLS3_uc011mth.1_Missense_Mutation_p.H235D	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	280	CH 2.|Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						GGCAAACTTTCATTTGGAAAA	0.408		NaN											0	0	0	0.002299	0	17	43				
UBE2A	7319	broad.mit.edu	37	X	118708895	118708895	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:118708895G>A	uc004erl.2	+	2	252	c.76G>A	c.(76-78)GGG>AGG	p.G26R	UBE2A_uc004erm.2_Missense_Mutation_p.G26R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	26					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						CGGAGTCAGCGGGGCTCCGTC	0.657		NaN						Direct_reversal_of_damage|Rad6_pathway					0	0	0	0.00361	0	61	3				
ENOX2	10495	broad.mit.edu	37	X	129801714	129801714	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:129801714C>A	uc004evw.2	-	9	1202	c.784G>T	c.(784-786)GAT>TAT	p.D262Y	ENOX2_uc004evx.2_Missense_Mutation_p.D233Y|ENOX2_uc004evy.2_Missense_Mutation_p.D233Y|ENOX2_uc004evv.2_Missense_Mutation_p.D89Y	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	262					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						AATTTGGAATCATCTGAAAAA	0.403		NaN											1	0	5.9392e-07	0.001168	6.18048e-07	5	10				
IGSF1	3547	broad.mit.edu	37	X	130409559	130409559	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:130409559G>A	uc004ewd.2	-	16	3315	c.3077C>T	c.(3076-3078)ACC>ATC	p.T1026I	IGSF1_uc004ewe.3_Missense_Mutation_p.T1020I|IGSF1_uc004ewf.2_Missense_Mutation_p.T1006I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1026	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						AGATATATTGGTGATGGGGAA	0.517		NaN											0	0	0	0.00361	0	89	2				
MAGEC1	9947	broad.mit.edu	37	X	140994913	140994913	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:140994913C>A	uc004fbt.2	+	4	2009	c.1723C>A	c.(1723-1725)CTG>ATG	p.L575M	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTCCCTGTCTCCTCA	0.597		NaN								HNSCC(15;0.026)			1	0	3.09899e-07	0.004482	3.23499e-07	6	301				
ATP2B3	492	broad.mit.edu	37	X	152807362	152807362	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:152807362G>A	uc004fht.1	+	3	768	c.642G>A	c.(640-642)GGG>GGA	p.G214G	ATP2B3_uc004fhs.1_Silent_p.G214G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	214	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGGGGGACATTGCCC	0.637		NaN											0	0	0	0.00361	0	59	9				
CELA2A	63036	broad.mit.edu	37	1	15789243	15789243	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:15789243C>T	uc001awk.2	+	4	269	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	81	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CCAGGACCTACCGCGTGGGGC	0.612		NaN											0	0	0	0.039052	0	43	81				
CNKSR1	10256	broad.mit.edu	37	1	26514993	26514993	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26514993C>T	uc001bln.3	+	18	1668	c.1610C>T	c.(1609-1611)TCG>TTG	p.S537L	CNKSR1_uc001blm.3_Missense_Mutation_p.S530L|CNKSR1_uc009vsd.2_Missense_Mutation_p.S272L|CNKSR1_uc009vse.2_Missense_Mutation_p.S272L|CNKSR1_uc001blo.2_Missense_Mutation_p.S272L|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	537					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGCCTCGGTGAGTGGG	0.637		NaN											0	0	0	0.038147	0	7	13				
CNKSR1	10256	broad.mit.edu	37	1	26515960	26515960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:26515960C>G	uc001bln.3	+	21	2142	c.2084C>G	c.(2083-2085)TCC>TGC	p.S695C	CNKSR1_uc001blm.3_Missense_Mutation_p.S688C|CNKSR1_uc009vsd.2_Missense_Mutation_p.S430C|CNKSR1_uc009vse.2_Missense_Mutation_p.S430C|CNKSR1_uc001blo.2_Missense_Mutation_p.S430C|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	695					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTCCCTGCCCTCT	0.642		NaN											0	0	0	0.11126	0	42	84				
FGR	2268	broad.mit.edu	37	1	27943478	27943478	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27943478C>G	uc001boj.2	-	5	718	c.572G>C	c.(571-573)AGA>ACA	p.R191T	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R191T|FGR_uc001bol.2_Missense_Mutation_p.R191T|FGR_uc001bom.2_Missense_Mutation_p.R191T	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	191	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATCGCCTCTGGTCTGATC	0.557		NaN											0	0	0	0.048971	0	50	94				
BAI2	576	broad.mit.edu	37	1	32204223	32204223	+	Silent	SNP	C	C	T	rs140870509		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:32204223C>T	uc001btn.2	-	17	2964	c.2610G>A	c.(2608-2610)ACG>ACA	p.T870T	BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Silent_p.T512T|BAI2_uc010ogp.1_Silent_p.T803T|BAI2_uc010ogq.1_Silent_p.T870T|BAI2_uc001bto.2_Silent_p.T870T|BAI2_uc001btq.1_Silent_p.T803T	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	870	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T870T(1)		lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AATGGGGATCCGTGGTCCCCT	0.632		NaN											0	0	0	0.047766	0	8	13				
GNL2	29889	broad.mit.edu	37	1	38032516	38032516	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:38032516C>G	uc001cbk.2	-	16	2299	c.2136G>C	c.(2134-2136)AAG>AAC	p.K712N		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	712					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				CATTGGTCTTCTTTTTGTTCC	0.388		NaN											0	0	0	0.048971	0	52	108				
DMBX1	127343	broad.mit.edu	37	1	46976774	46976774	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:46976774C>A	uc001cpx.2	+	3	531	c.516C>A	c.(514-516)GGC>GGA	p.G172G	DMBX1_uc001cpw.2_Silent_p.G167G	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	172					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTCTGCCTGGCAGCGACCCCC	0.662		NaN											1	0	1.36161e-19	0.069456	1.46477e-19	33	114				
HSPB11	51668	broad.mit.edu	37	1	54405716	54405716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:54405716C>T	uc001cwh.2	-	2	116	c.40G>A	c.(40-42)GAA>AAA	p.E14K	HSPB11_uc001cwi.1_Missense_Mutation_p.E14K	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	14					cell adhesion|response to stress						0						AAAATCACTTCGGACCCTTCA	0.328		NaN											0	0	0	0.038395	0	14	31				
LRRIQ3	127255	broad.mit.edu	37	1	74506961	74506961	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:74506961C>A	uc001dfy.3	-	7	1846	c.1654G>T	c.(1654-1656)GTT>TTT	p.V552F	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	552										ovary(2)	2						TTTTGCTTAACAATCAGGCTT	0.313		NaN											1	0	2.2171e-23	0.041601	2.4094e-23	32	45				
GTF2B	2959	broad.mit.edu	37	1	89323052	89323052	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:89323052G>A	uc001dmo.3	-	6	773	c.654C>T	c.(652-654)TTC>TTT	p.F218F		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	218	2.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GGTTGGAACAGAACCTGGACA	0.433		NaN											0	0	0	0.083992	0	26	50				
COL11A1	1301	broad.mit.edu	37	1	103488345	103488345	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:103488345C>G	uc001dul.2	-	8	1516	c.1198G>C	c.(1198-1200)GAA>CAA	p.E400Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E412Q|COL11A1_uc001dun.2_Missense_Mutation_p.E361Q|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	400	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAAATTCTTCATTAGGG	0.363		NaN											0	0	0	0.108266	0	28	81				
ADAR	103	broad.mit.edu	37	1	154562706	154562706	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:154562706C>G	uc001ffh.2	-	7	2650	c.2450G>C	c.(2449-2451)AGA>ACA	p.R817T	ADAR_uc001ffj.2_Intron|ADAR_uc001ffi.2_Intron|ADAR_uc001ffk.2_Missense_Mutation_p.R522T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	817					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGCATAGTTCTTCTGAGACT	0.552		NaN											0	0	0	0.074837	0	33	60				
SELP	6403	broad.mit.edu	37	1	169566333	169566333	+	Missense_Mutation	SNP	G	G	A	rs143148749		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:169566333G>A	uc001ggi.3	-	11	1852	c.1787C>T	c.(1786-1788)TCC>TTC	p.S596F	SELP_uc001ggh.2_Missense_Mutation_p.S431F|SELP_uc009wvr.2_Missense_Mutation_p.S596F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	596	Extracellular (Potential).|Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.S596T(1)		ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATGGCAGGTGGAGCCAACATT	0.498		NaN											0	0	0	0.030593	0	29	33				
CHIT1	1118	broad.mit.edu	37	1	203194936	203194936	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:203194936G>A	uc001gzn.2	-	3	214	c.118C>T	c.(118-120)CGC>TGC	p.R40C	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.R50C	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	40					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GGCAGGAAGCGAGCCTCCCCC	0.577		NaN											0	0	0	0.059317	0	32	52				
NFASC	23114	broad.mit.edu	37	1	204923365	204923365	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:204923365C>T	uc001hbj.2	+	6	593	c.265C>T	c.(265-267)CGG>TGG	p.R89W	NFASC_uc001hbh.2_Missense_Mutation_p.R89W|NFASC_uc010pqz.1_Missense_Mutation_p.R83W|NFASC_uc010pra.1_Missense_Mutation_p.R83W|NFASC_uc001hbi.2_Missense_Mutation_p.R83W|NFASC_uc009xbg.1_Missense_Mutation_p.R156W|NFASC_uc010prb.1_Missense_Mutation_p.R83W|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	89	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAAGGACCCCCGGGTGTCCAT	0.602		NaN											0	0	0	0.049695	0	19	53				
ITIH2	3698	broad.mit.edu	37	10	7774363	7774363	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:7774363G>A	uc001ijs.2	+	14	1872	c.1710G>A	c.(1708-1710)TCG>TCA	p.S570S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		ovary(1)|pancreas(1)|skin(1)	3						ATTTTCTATCGAAAGACAAGC	0.483		NaN											0	0	0	0.09319	0	13	43				
TAF3	83860	broad.mit.edu	37	10	8056618	8056618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:8056618G>T	uc010qbd.1	+	7	2694	c.2694G>T	c.(2692-2694)ATG>ATT	p.M898I		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	898	PHD-type.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						TTGGAATCATGACTGCACCCC	0.448		NaN											1	0	6.4e-05	0.004672	6.46066e-05	3	18				
PTCHD3	374308	broad.mit.edu	37	10	27688159	27688159	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:27688159G>A	uc001itu.2	-	4	1486	c.1368C>T	c.(1366-1368)GTC>GTT	p.V456V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	456	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ACATGTCATCGACCCCAACAC	0.358		NaN											0	0	0	0.055883	0	18	30				
ADAMTS14	140766	broad.mit.edu	37	10	72517796	72517796	+	Missense_Mutation	SNP	G	G	A	rs146237817	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:72517796G>A	uc001jrh.2	+	20	3016	c.3016G>A	c.(3016-3018)GAG>AAG	p.E1006K	ADAMTS14_uc001jrg.2_Missense_Mutation_p.E1009K	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1006	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						CGGGCATTGCGAGGGGGATAG	0.667		NaN											0	0	0	0.021553	0	6	79				
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:75011600G>A	uc001jts.1	-	2	406	c.195C>T	c.(193-195)CTC>CTT	p.L65L	DNAJC9_uc010qkg.1_5'Flank|MRPS16_uc010qkh.1_RNA|MRPS16_uc001jtt.1_RNA|uc001jtu.1_5'Flank	NM_016065	NP_057149	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16 precursor	65					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537		NaN											0	0	0	0.048971	0	50	113				
LIPF	8513	broad.mit.edu	37	10	90427424	90427424	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:90427424G>A	uc001kfg.1	+	3	370	c.204G>A	c.(202-204)AAG>AAA	p.K68K	LIPF_uc009xtk.2_Silent_p.K68K|LIPF_uc001kfh.1_Silent_p.K78K|LIPF_uc010qmt.1_Silent_p.K78K|LIPF_uc010qmu.1_Silent_p.K68K	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	68					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTTATGGGAAGAAAAATTCAG	0.214		NaN											0	0	0	0.108266	0	25	55				
DMBT1	1755	broad.mit.edu	37	10	124348479	124348479	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr10:124348479C>T	uc001lgk.1	+	17	1909	c.1803C>T	c.(1801-1803)GCC>GCT	p.A601A	DMBT1_uc001lgl.1_Silent_p.A591A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A601A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	601					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTTTGGCCCTGAGGCTGG	0.542		NaN											0	0	0	0.047766	0	8	5				
MUC5B	727897	broad.mit.edu	37	11	1267503	1267503	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:1267503G>A	uc009ycr.1	+	49	11268	c.11142G>A	c.(11140-11142)ACG>ACA	p.T3714T	MUC5B_uc001ltb.2_Silent_p.T3134T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3131	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCGGGGACGACCTGGATCC	0.657		NaN											0	0	0	0.048971	0	58	134				
LGR4	55366	broad.mit.edu	37	11	27398722	27398722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:27398722G>T	uc001mrj.3	-	12	1577	c.1092C>A	c.(1090-1092)TGC>TGA	p.C364*	LGR4_uc001mrk.3_Nonsense_Mutation_p.C340*	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	364	Extracellular (Potential).|LRR 12.					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CCAGAGCATGGCAACCATTAA	0.308		NaN											1	0	5.77227e-19	0.037714	6.17836e-19	28	47				
TMX2	51075	broad.mit.edu	37	11	57505121	57505121	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:57505121G>A	uc001nlc.1	+	2	280	c.231G>A	c.(229-231)ATG>ATA	p.M77I	CTNND1_uc001nlf.1_5'UTR|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.M77I	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	77	Extracellular (Potential).				cell redox homeostasis	integral to membrane					0						CCATTGTGATGATGAAGAACC	0.433		NaN											0	0	0	0.024245	0	13	32				
CD5	921	broad.mit.edu	37	11	60892591	60892591	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:60892591C>A	uc009ynk.2	+	9	1470	c.1367C>A	c.(1366-1368)CCT>CAT	p.P456H		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	456	Cytoplasmic (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TACAGCCAACCTCCCAGGAAC	0.617		NaN											1	0	3.10358e-05	0.069288	3.14792e-05	22	39				
GDPD4	220032	broad.mit.edu	37	11	76944073	76944073	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944073G>A	uc001oyf.2	-	13	1637	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	462	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AGCTCACCATGAAGAAGTGAG	0.557		NaN											0	0	0	0.069456	0	13	43				
GDPD4	220032	broad.mit.edu	37	11	76944076	76944076	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944076G>A	uc001oyf.2	-	13	1634	c.1383C>T	c.(1381-1383)TTC>TTT	p.F461F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	461	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						TCACCATGAAGAAGTGAGGGT	0.547		NaN											0	0	0	0.074837	0	13	43				
GDPD4	220032	broad.mit.edu	37	11	76944087	76944087	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:76944087G>A	uc001oyf.2	-	13	1623	c.1372C>T	c.(1372-1374)CAC>TAC	p.H458Y		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	458	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AAGTGAGGGTGATCAAGCTGA	0.537		NaN											0	0	0	0.09836	0	18	43				
MMP8	4317	broad.mit.edu	37	11	102586120	102586120	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:102586120A>G	uc001phe.2	-	7	1050	c.951T>C	c.(949-951)TTT>TTC	p.F317F	MMP8_uc010rut.1_Silent_p.F252F|MMP8_uc010ruu.1_Silent_p.F294F	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	317	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATAGAGAAATAAAATTCATTT	0.383		NaN											0	0	0	0.0333	0	18	16				
RPH3A	22895	broad.mit.edu	37	12	113325677	113325677	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113325677G>A	uc010syl.1	+	17	1874	c.1512G>A	c.(1510-1512)CTG>CTA	p.L504L	RPH3A_uc001ttz.2_Silent_p.L504L|RPH3A_uc001tty.2_Silent_p.L500L|RPH3A_uc009zwe.1_Silent_p.L500L|RPH3A_uc010sym.1_Silent_p.L455L|RPH3A_uc001tua.2_Silent_p.L264L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	504					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCAAGAAACTGAAGCCCAACC	0.502		NaN											0	0	0	0.048971	0	63	198				
DTX1	1840	broad.mit.edu	37	12	113515459	113515459	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113515459C>T	uc001tuk.1	+	2	826	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	164	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCGCCAGAcgcgccggcgccg	0.527		NaN											0	0	0	0.038147	0	6	22				
SLC24A6	80024	broad.mit.edu	37	12	113742153	113742153	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:113742153C>T	uc001tvc.2	-	15	1740	c.1530G>A	c.(1528-1530)CAG>CAA	p.Q510Q	SLC24A6_uc001tuz.2_Silent_p.Q215Q|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.Q248Q	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	510	Cytoplasmic (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						TTCGGGAGATCTGGAGCAGGC	0.502		NaN											0	0	0	0.048971	0	48	182				
NBEA	26960	broad.mit.edu	37	13	35731303	35731303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:35731303G>T	uc001uvb.2	+	22	2946	c.2740G>T	c.(2740-2742)GAA>TAA	p.E914*		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	914						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGATTACCGAAATGGTCTA	0.408		NaN											1	0	1.84765e-07	0.064281	1.89206e-07	37	76				
PCDH8	5100	broad.mit.edu	37	13	53421499	53421499	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:53421499G>A	uc001vhi.2	-	1	1276	c.1073C>T	c.(1072-1074)CCG>CTG	p.P358L	PCDH8_uc001vhj.2_Missense_Mutation_p.P358L	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	358	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGGCCAGCGGGGTGATGGC	0.761		NaN											0	0	0	0.047766	0	8	14				
KLF5	688	broad.mit.edu	37	13	73649881	73649881	+	Missense_Mutation	SNP	G	G	T	rs144543104		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649881G>T	uc001vje.2	+	4	1555	c.1231G>T	c.(1231-1233)GAC>TAC	p.D411Y	KLF5_uc001vjd.2_Missense_Mutation_p.D320Y	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	411	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAAGGCTGCGACTGGAGGTT	0.577		NaN											1	0	9.90819e-18	0.048971	1.04997e-17	54	137		Valid		
KLF5	688	broad.mit.edu	37	13	73649892	73649892	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:73649892C>T	uc001vje.2	+	4	1566	c.1242C>T	c.(1240-1242)TTC>TTT	p.F414F	KLF5_uc001vjd.2_Silent_p.F323F	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	414	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACTGGAGGTTCGCGCGATCGG	0.582		NaN											0	0	0	0.11126	0	43	108				
ABCC4	10257	broad.mit.edu	37	13	95813572	95813572	+	Missense_Mutation	SNP	C	C	T	rs146708960		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:95813572C>T	uc001vmd.3	-	19	2445	c.2326G>A	c.(2326-2328)GTT>ATT	p.V776I	ABCC4_uc010afk.2_Missense_Mutation_p.V729I|ABCC4_uc001vme.2_Missense_Mutation_p.V776I|ABCC4_uc010tih.1_Missense_Mutation_p.V701I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	776	ABC transmembrane type-1 2.|Helical; (Potential).		V -> I (20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type).		platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAAAAAGAACGGTAGCTACA	0.358		NaN											0	0	0	0.058154	0	10	39				
COL4A1	1282	broad.mit.edu	37	13	110830437	110830437	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:110830437C>T	uc001vqw.3	-	32	2722	c.2600G>A	c.(2599-2601)GGG>GAG	p.G867E	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	867	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCAGGAGCCCCCTGCTGTCC	0.547		NaN											0	0	0	0.048971	0	50	109				
RNASE3	6037	broad.mit.edu	37	14	21359944	21359944	+	Silent	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:21359944G>T	uc001vyj.2	+	2	153	c.99G>T	c.(97-99)ACG>ACT	p.T33T		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	33					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CACAGTTTACGAGGGCTCAGT	0.507		NaN											1	0	3.70713e-34	0.048971	4.0702e-34	47	109				
C14orf21	161424	broad.mit.edu	37	14	24769970	24769970	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:24769970C>T	uc001wol.1	+	2	667	c.604C>T	c.(604-606)CAT>TAT	p.H202Y	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	202	Pumilio 2.						RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		TGGAGACACACATGGCAGCTT	0.527		NaN											0	0	0	0.048971	0	54	107				
ARHGAP5	394	broad.mit.edu	37	14	32561150	32561150	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:32561150G>C	uc001wrl.2	+	2	1514	c.1275G>C	c.(1273-1275)AAG>AAC	p.K425N	ARHGAP5_uc001wrm.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wrn.2_Missense_Mutation_p.K425N|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	425					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCGAGAAGAGGAGGGTGG	0.393		NaN											0	0	0	0.069456	0	38	58				
PPM1A	5494	broad.mit.edu	37	14	60750068	60750068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:60750068C>T	uc010apn.2	+	3	1049	c.647C>T	c.(646-648)TCA>TTA	p.S216L	PPM1A_uc001xew.3_Missense_Mutation_p.S289L|PPM1A_uc001xex.3_Missense_Mutation_p.S216L|PPM1A_uc001xey.3_Missense_Mutation_p.S216L	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	216					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CAGCTTGTCTCACCAGAGCCT	0.443		NaN											0	0	0	0.048971	0	55	112				
ZFP36L1	677	broad.mit.edu	37	14	69256761	69256761	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:69256761T>C	uc001xkh.1	-	2	636	c.506A>G	c.(505-507)TAC>TGC	p.Y169C	ZFP36L1_uc001xki.1_Missense_Mutation_p.Y169C	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	169	C3H1-type 2.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCGGGGCCCGTAGGGGCAAAA	0.672		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.042209	0	38	83		Valid		
C14orf49	161176	broad.mit.edu	37	14	95884264	95884264	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:95884264G>A	uc001yei.3	-	17	2842	c.2827C>T	c.(2827-2829)CTG>TTG	p.L943L	C14orf49_uc010avi.2_Silent_p.L938L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	943	Helical; Anchor for type IV membrane protein; (Potential).|KASH.				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		ATTGGGagcaggaacagcagg	0.493		NaN											0	0	0	0.048971	0	47	74				
HHIPL1	84439	broad.mit.edu	37	14	100118593	100118593	+	Silent	SNP	C	C	T	rs142575301		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:100118593C>T	uc010avs.2	+	2	353	c.288C>T	c.(286-288)GAC>GAT	p.D96D	HHIPL1_uc001ygl.1_Silent_p.D96D	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	96					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				ACCTCTATGACGCCGAGGACC	0.522		NaN											0	0	0	0.099896	0	27	68				
UNC13C	440279	broad.mit.edu	37	15	54793159	54793159	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:54793159A>C	uc002ack.2	+	20	5284	c.5284A>C	c.(5284-5286)ATG>CTG	p.M1762L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1762	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTCACTTAATGAGAAGATT	0.368		NaN											0	0	0	0.045515	0	44	75				
TLN2	83660	broad.mit.edu	37	15	63128203	63128203	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63128203C>G	uc002alb.3	+	54	7305	c.7305C>G	c.(7303-7305)TCC>TCG	p.S2435S	TLN2_uc002alc.3_Silent_p.S828S|TLN2_uc010uic.1_Silent_p.S36S|uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2435	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TCGCCGCTTCCACGGCTCAGC	0.612		NaN											0	0	0	0.105934	0	14	25				
HERC1	8925	broad.mit.edu	37	15	63927026	63927026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:63927026C>T	uc002amp.2	-	66	12624	c.12476G>A	c.(12475-12477)GGG>GAG	p.G4159E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4159	RCC1 11.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GTCACCATTCCCAAAGGTGAA	0.448		NaN											0	0	0	0.105934	0	14	18				
THSD4	79875	broad.mit.edu	37	15	72030322	72030322	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:72030322G>C	uc002atb.1	+	10	1961	c.1882G>C	c.(1882-1884)GAA>CAA	p.E628Q	THSD4_uc010ukg.1_Missense_Mutation_p.E268Q|THSD4_uc002ate.2_Missense_Mutation_p.E268Q	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	628						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGGGACAACAGAATGTTCCAC	0.587		NaN											0	0	0	0.055883	0	20	43				
NEO1	4756	broad.mit.edu	37	15	73428236	73428236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr15:73428236G>A	uc002avm.3	+	5	1025	c.883G>A	c.(883-885)GAA>AAA	p.E295K	NEO1_uc010ukx.1_Missense_Mutation_p.E295K|NEO1_uc010uky.1_Missense_Mutation_p.E295K|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	295	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ACACAGCTCTGAAAGATTGGT	0.338		NaN											0	0	0	0.02938	0	5	8				
SRRM2	23524	broad.mit.edu	37	16	2820448	2820448	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:2820448C>T	uc002crk.2	+	13	8666	c.8117C>T	c.(8116-8118)TCA>TTA	p.S2706L		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2706	Ser-rich.|Arg-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCCAGCCCTCACCACGGGAC	0.642		NaN											0	0	0	0.02938	0	7	12				
MEFV	4210	broad.mit.edu	37	16	3297033	3297033	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:3297033C>T	uc002cun.1	-	5	1610	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	524					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGTTCCCATTCTGACTGGCAC	0.617		NaN											0	0	0	0.048971	0	51	74				
TNRC6A	27327	broad.mit.edu	37	16	24826603	24826603	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:24826603C>G	uc002dmm.2	+	19	4922	c.4808C>G	c.(4807-4809)TCT>TGT	p.S1603C	TNRC6A_uc010bxs.2_Missense_Mutation_p.S1350C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1301C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1242C|TNRC6A_uc002dmp.2_Missense_Mutation_p.S204C|TNRC6A_uc002dmq.2_Missense_Mutation_p.S270C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1603					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTAACGGCTCTAGCAGTGTT	0.433		NaN											0	0	0	0.0918	0	26	34				
MYLK3	91807	broad.mit.edu	37	16	46744549	46744549	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46744549C>T	uc002eei.3	-	11	2383	c.2267G>A	c.(2266-2268)AGC>AAC	p.S756N	MYLK3_uc010vge.1_Missense_Mutation_p.S415N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	756	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGAAAGGTACCTCTTCTCTTT	0.532		NaN											0	0	0	0.045515	0	43	101				
MYLK3	91807	broad.mit.edu	37	16	46766181	46766181	+	Silent	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:46766181C>A	uc002eei.3	-	4	1517	c.1401G>T	c.(1399-1401)CCG>CCT	p.P467P	MYLK3_uc010vge.1_Silent_p.P126P|MYLK3_uc002eej.1_Silent_p.P126P	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	467					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCTCTCACCGGAGCCCTGG	0.657		NaN											1	0	5.60225e-13	0.041601	5.84941e-13	32	61				
ZNF423	23090	broad.mit.edu	37	16	49671231	49671231	+	Missense_Mutation	SNP	T	T	A	rs114911915	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:49671231T>A	uc002efs.2	-	5	2130	c.1832A>T	c.(1831-1833)GAG>GTG	p.E611V	ZNF423_uc010vgn.1_Missense_Mutation_p.E494V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	611					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGAAGACACCTCCACATCGGA	0.547		NaN											0	0	0	0.048971	0	46	60				
PARD6A	50855	broad.mit.edu	37	16	67695399	67695399	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:67695399G>A	uc002ett.2	+	2	196	c.105G>A	c.(103-105)TCG>TCA	p.S35S	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S35S|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCGCGCTTCGGTGAGCGGCT	0.657		NaN											0	0	0	0.039052	0	38	87				
LDHD	197257	broad.mit.edu	37	16	75149486	75149487	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:75149486_75149487CC>TT	uc002fdm.2	-	2	191_192	c.144_145GG>AA	c.(142-147)GCGGTG>GCAATG	p.V49M	LDHD_uc002fdn.2_Missense_Mutation_p.V49M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	49							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						TCTCGGACCACCGCGGCAGTGG	0.649		NaN											0	0	0	0.004672	0	7	38				
RPL13	6137	broad.mit.edu	37	16	89629441	89629441	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr16:89629441G>T	uc002fnm.1	+	6	678	c.627G>T	c.(625-627)AAG>AAT	p.K209N	RPL13_uc010vpj.1_Missense_Mutation_p.K162N|RPL13_uc002fnn.1_Missense_Mutation_p.K209N|RPL13_uc002fno.1_3'UTR	NM_000977	NP_000968	P26373	RL13_HUMAN	ribosomal protein L13	209					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome				0		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		ATGTTGAAAAGAAAAAATAAA	0.557		NaN											1	0	2.10051e-16	0.09319	2.21489e-16	12	21				
RILP	83547	broad.mit.edu	37	17	1551226	1551226	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:1551226G>A	uc002ftd.2	-	6	1141	c.847C>T	c.(847-849)CCC>TCC	p.P283S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	283	Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAAGGCCGGGGACCCGGTGG	0.602		NaN											0	0	0	0.0918	0	25	36				
TP53	7157	broad.mit.edu	37	17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	rs1042522	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:7579472G>C	uc002gim.2	-	4	409	c.215C>G	c.(214-216)CCC>CGC	p.P72R	TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72	Interaction with WWOX.|Interaction with HRMT1L2.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGCCACGGGGGGAGCAGC	0.607		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.09319	0	12	141		Invalid		
GAS2L2	246176	broad.mit.edu	37	17	34073278	34073278	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:34073278C>T	uc002hjv.1	-	6	1266	c.1238G>A	c.(1237-1239)AGG>AAG	p.R413K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	413					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCCTTCCCCTGGGGAGTTC	0.597		NaN											0	0	0	0.048971	0	154	150				
STARD3	10948	broad.mit.edu	37	17	37809815	37809815	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:37809815G>A	uc002hsd.2	+	2	155	c.31G>A	c.(31-33)GAC>AAC	p.D11N	STARD3_uc010weg.1_Missense_Mutation_p.D11N|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.D11N|STARD3_uc010wei.1_Missense_Mutation_p.D11N|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	11	Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGACCCGAGACTTGGAGCG	0.716		NaN									OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.043863	0	16	74				
NSF	4905	broad.mit.edu	37	17	44827187	44827187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:44827187C>A	uc002iku.2	+	18	2061	c.1957C>A	c.(1957-1959)CAG>AAG	p.Q653K	NSF_uc010wke.1_Missense_Mutation_p.Q559K|NSF_uc010wkf.1_Missense_Mutation_p.Q559K|NSF_uc010wkg.1_Missense_Mutation_p.Q648K	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	653					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGATGTCCTTCAGGAGATGGA	0.448		NaN											1	0	6.00712e-18	0.050027	6.39759e-18	29	109				
COIL	8161	broad.mit.edu	37	17	55023818	55023818	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:55023818G>A	uc002iuu.2	-	5	1574	c.1543C>T	c.(1543-1545)CTT>TTT	p.L515F		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	515	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					AAGGATGAAAGAATTTCTATA	0.308		NaN											0	0	0	0.048971	0	47	161				
SMARCD2	6603	broad.mit.edu	37	17	61910950	61910950	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:61910950G>A	uc010deb.1	-	10	1631	c.1314C>T	c.(1312-1314)GTC>GTT	p.V438V	SMARCD2_uc010wpt.1_Silent_p.V390V|SMARCD2_uc010dea.1_Silent_p.V363V|SMARCD2_uc010dec.1_Silent_p.V417V	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						GGCCCACCTTGACATCAAGGG	0.577		NaN											0	0	0	0.045515	0	40	121				
ABCA8	10351	broad.mit.edu	37	17	66915581	66915581	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:66915581A>G	uc002jhp.2	-	13	1828	c.1649T>C	c.(1648-1650)ATG>ACG	p.M550T	ABCA8_uc002jhq.2_Missense_Mutation_p.M550T|ABCA8_uc010wqq.1_Missense_Mutation_p.M550T|ABCA8_uc010wqr.1_Missense_Mutation_p.M489T|ABCA8_uc002jhr.2_Missense_Mutation_p.M550T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	550	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TAGGTCAGCCATTTCTGAAAG	0.368		NaN											0	0	0	0.062417	0	19	82				
DCC	1630	broad.mit.edu	37	18	50985651	50985651	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:50985651C>A	uc002lfe.1	+	24	4029	c.3442C>A	c.(3442-3444)CTC>ATC	p.L1148I	DCC_uc010dpf.1_Missense_Mutation_p.L783I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1148	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGAAGGACCTCCGACCCCC	0.493		NaN											1	0	1.49552e-23	0.048971	1.63357e-23	70	27				
SERPINB11	89778	broad.mit.edu	37	18	61383320	61383320	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr18:61383320G>A	uc002ljk.3	+	6	471	c.409G>A	c.(409-411)GAT>AAT	p.D137N	SERPINB11_uc010xes.1_Intron|SERPINB11_uc010dqd.2_Missense_Mutation_p.D23N|SERPINB11_uc002ljj.3_Missense_Mutation_p.D23N|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	137					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				GCAAACTGTGGATTTTGAACA	0.343		NaN											0	0	0	0.049695	0	18	10				
POLRMT	5442	broad.mit.edu	37	19	619039	619039	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:619039G>A	uc002lpf.1	-	15	3281	c.3225C>T	c.(3223-3225)GGC>GGT	p.G1075G		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1075	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGGGGACGCCCAGGGGTG	0.647		NaN											0	0	0	0.049695	0	20	21				
AP3D1	8943	broad.mit.edu	37	19	2110148	2110148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:2110148G>A	uc002luz.2	-	26	3288	c.3065C>T	c.(3064-3066)TCC>TTC	p.S1022F	AP3D1_uc010dsv.2_Missense_Mutation_p.S112F|AP3D1_uc002luy.2_Missense_Mutation_p.S981F|AP3D1_uc002lva.2_Missense_Mutation_p.S1084F	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1022					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAATGAAGGACAGGGTCCC	0.632		NaN											0	0	0	0.069288	0	21	42				
SAFB	6294	broad.mit.edu	37	19	5668195	5668195	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:5668195G>A	uc002mcf.2	+	21	2694	c.2641G>A	c.(2641-2643)GGG>AGG	p.G881R	SAFB_uc002mcg.2_Missense_Mutation_p.G883R|SAFB_uc002mce.3_Missense_Mutation_p.G882R|SAFB_uc010xir.1_Missense_Mutation_p.G880R|SAFB_uc010xis.1_Missense_Mutation_p.G814R|SAFB_uc010xit.1_Missense_Mutation_p.G725R|SAFB_uc010xiu.1_Missense_Mutation_p.G682R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	881	Interaction with SAFB2.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCCCCAGGCGGGGCCTCCCG	0.682		NaN											0	0	0	0.048971	0	46	78				
ICAM3	3385	broad.mit.edu	37	19	10445321	10445321	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:10445321G>C	uc002mob.2	-	5	1130	c.1075C>G	c.(1075-1077)CAA>GAA	p.Q359E	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.Q282E	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	359	Extracellular (Potential).|Ig-like C2-type 4.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCTGAAGTTGAGCTGGCTGC	0.632		NaN											0	0	0	0.074837	0	32	67				
ZNF799	90576	broad.mit.edu	37	19	12491949	12491949	+	Missense_Mutation	SNP	T	T	C	rs11668955	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491949T>C	uc002mts.3	-	4	593	c.127A>G	c.(127-129)ACC>GCC	p.T43A				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TAACTGAAGGTTTTCCAAAAT	0.403		NaN											0	0	0	0.004672	0	3	24				
ZNF799	90576	broad.mit.edu	37	19	12491955	12491955	+	Missense_Mutation	SNP	A	A	C	rs11668074	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:12491955A>C	uc002mts.3	-	4	587	c.121T>G	c.(121-123)TGG>GGG	p.W41G				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						AAGGTTTTCCAAAATTGTTTA	0.408		NaN											0	0	0	0.004672	0	3	20				
SLC5A5	6528	broad.mit.edu	37	19	17992856	17992856	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17992856A>T	uc002nhr.3	+	9	1493	c.1146A>T	c.(1144-1146)AAA>AAT	p.K382N		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	382	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CACCCAGGAAACTCGTGATTA	0.577		NaN											0	0	0	0.108266	0	28	52				
MAST3	23031	broad.mit.edu	37	19	18234408	18234408	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:18234408G>A	uc002nhz.3	+	7	489	c.489G>A	c.(487-489)GGG>GGA	p.G163G		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	163							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGCAACGGGGACCTTCGACA	0.602		NaN											0	0	0	0.014758	0	5	10				
PDCD2L	84306	broad.mit.edu	37	19	34895679	34895679	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:34895679C>T	uc002nvj.2	+	2	267	c.234C>T	c.(232-234)TTC>TTT	p.F78F		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	78						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCACGTGTTCGCGTGCGCCT	0.711		NaN											0	0	0	0.09319	0	10	10				
ZNF841	284371	broad.mit.edu	37	19	52568806	52568806	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:52568806G>A	uc002pyl.1	-	5	2533	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	ZNF841_uc010ydh.1_Missense_Mutation_p.R777C|ZNF841_uc010epk.1_Missense_Mutation_p.R353C	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	661	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGCCTGAGCGATAACGGAAG	0.428		NaN											0	0	0	0.020292	0	15	29				
LAIR1	3903	broad.mit.edu	37	19	54871634	54871634	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:54871634G>A	uc002qfk.1	-	4	720	c.410C>T	c.(409-411)TCA>TTA	p.S137L	LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Missense_Mutation_p.S136L|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.1_Missense_Mutation_p.S130L|LAIR1_uc002qfo.2_Missense_Mutation_p.S119L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	137	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGACCAGCTGAGGAGCCGGG	0.627		NaN											0	0	0	0.024245	0	12	30				
NLRP2	55655	broad.mit.edu	37	19	55512138	55512138	+	Missense_Mutation	SNP	G	G	C	rs144393067		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:55512138G>C	uc002qij.2	+	13	3147	c.3061G>C	c.(3061-3063)GAT>CAT	p.D1021H	NLRP2_uc010yfp.1_Missense_Mutation_p.D998H|NLRP2_uc010esn.2_Missense_Mutation_p.D997H|NLRP2_uc010eso.2_Missense_Mutation_p.D1018H|NLRP2_uc010esp.2_Missense_Mutation_p.D999H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1021	LRR 8.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTGAAAATCGATGACTTTAA	0.393		NaN											0	0	0	0.09836	0	36	53				
MAP4K3	8491	broad.mit.edu	37	2	39505628	39505628	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:39505628C>T	uc002rro.2	-	24	1806	c.1715_splice	c.e24-1	p.D572_splice	MAP4K3_uc002rrp.2_Splice_Site_p.D551_splice|MAP4K3_uc010yns.1_Splice_Site_p.D125_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				AAGTACTGATCTGAAATAAAA	0.254		NaN											0	0	0	0.045705	0	31	27				
KLRAQ1	129285	broad.mit.edu	37	2	48698230	48698230	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:48698230C>T	uc002rwm.2	+	10	1087	c.902C>T	c.(901-903)TCA>TTA	p.S301L	KLRAQ1_uc002rwi.1_Missense_Mutation_p.S301L|KLRAQ1_uc002rwj.2_Missense_Mutation_p.S301L|KLRAQ1_uc002rwl.2_Missense_Mutation_p.S255L|KLRAQ1_uc002rwk.2_Missense_Mutation_p.S301L|KLRAQ1_uc010yok.1_Missense_Mutation_p.S301L	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	301										ovary(1)	1						GTTTAGTTCTCACAATACCTT	0.363		NaN											0	0	0	0.054565	0	31	29				
ASB3	51130	broad.mit.edu	37	2	53897698	53897698	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:53897698T>C	uc002rxg.1	-	10	1634	c.1499A>G	c.(1498-1500)TAT>TGT	p.Y500C	ASB3_uc002rxh.1_Missense_Mutation_p.Y427C|ASB3_uc002rxi.3_Missense_Mutation_p.Y538C|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	500	SOCS box.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACGTCTTCATAGAGCAAATA	0.388		NaN											0	0	0	0.080935	0	11	35				
ALMS1	7840	broad.mit.edu	37	2	73717138	73717138	+	Silent	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:73717138A>G	uc002sje.1	+	12	8166	c.8055A>G	c.(8053-8055)GTA>GTG	p.V2685V	ALMS1_uc002sjf.1_Silent_p.V2641V|ALMS1_uc002sjg.2_Silent_p.V2071V|ALMS1_uc002sjh.1_Silent_p.V2071V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2683					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CAGAATTAGTAGAACCTGCTT	0.398		NaN											0	0	0	0.048971	0	173	126				
GPAT2	150763	broad.mit.edu	37	2	96690055	96690055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:96690055C>T	uc002svf.2	-	16	1923	c.1700G>A	c.(1699-1701)AGA>AAA	p.R567K	GPAT2_uc002svd.2_Missense_Mutation_p.R386K|GPAT2_uc002sve.2_Missense_Mutation_p.R369K|GPAT2_uc002svg.2_Missense_Mutation_p.R446K|GPAT2_uc010yuh.1_Missense_Mutation_p.R496K|GPAT2_uc002svh.2_Missense_Mutation_p.R567K	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	567					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GGGCGGCACTCTGCCTGCCAG	0.642		NaN											0	0	0	0.050027	0	25	23				
GLI2	2736	broad.mit.edu	37	2	121708927	121708927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:121708927C>G	uc010flp.2	+	3	393	c.363C>G	c.(361-363)TAC>TAG	p.Y121*	GLI2_uc010yyu.1_Nonsense_Mutation_p.Y121*|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Nonsense_Mutation_p.Y121*	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	121					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCCACCCGTACGTGAACCCCC	0.657		NaN											0	0	0	0.038147	0	8	84				
ZRANB3	84083	broad.mit.edu	37	2	136107676	136107676	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:136107676C>G	uc002tum.2	-	5	586	c.469G>C	c.(469-471)GAT>CAT	p.D157H	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D157H|ZRANB3_uc002tun.1_Missense_Mutation_p.D97H	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	157	DEAH box.|Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTGATTCATCCACTATAACT	0.408		NaN											0	0	0	0.080935	0	12	14				
TTN	7273	broad.mit.edu	37	2	179610937	179610937	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:179610937G>A	uc002unb.2	-	46	16414	c.16190C>T	c.(16189-16191)GCT>GTT	p.A5397V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8905							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATACAGCATCTGAATT	0.328		NaN											0	0	0	0.069288	0	23	30				
FARSB	10056	broad.mit.edu	37	2	223436667	223436667	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:223436667G>A	uc002vne.1	-	17	1728	c.1693C>T	c.(1693-1695)CAT>TAT	p.H565Y	FARSB_uc010zlq.1_Missense_Mutation_p.H585Y|FARSB_uc002vnf.1_Missense_Mutation_p.H466Y	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	565					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ACGTCAGGATGAAGGACCCCA	0.488		NaN											0	0	0	0.069288	0	21	17				
HDAC4	9759	broad.mit.edu	37	2	240061422	240061422	+	Silent	SNP	C	C	T	rs138989369	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:240061422C>T	uc002vyk.3	-	9	1728	c.936G>A	c.(934-936)GCG>GCA	p.A312A	HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TACCGTTCTCCGCGCTGACGC	0.662		NaN											0	0	0	0.09319	0	11	124				
PASK	23178	broad.mit.edu	37	2	242065894	242065894	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:242065894C>T	uc002wao.1	-	10	2528	c.2436G>A	c.(2434-2436)CGG>CGA	p.R812R	PASK_uc010zol.1_Silent_p.R626R|PASK_uc010zom.1_Silent_p.R777R|PASK_uc010fzl.1_Silent_p.R812R|PASK_uc010zon.1_Silent_p.R593R|PASK_uc002wap.2_Silent_p.R355R|PASK_uc002waq.2_Silent_p.R812R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	812					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCTCCCGGAACCGTCGGCCTT	0.562		NaN											0	0	0	0.041601	0	31	33				
CSNK2A1	1457	broad.mit.edu	37	20	472991	472991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:472991C>T	uc002wdw.1	-	9	921	c.528G>A	c.(526-528)TGG>TGA	p.W176*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.W176*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.W40*	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	176	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAGCCAAACCCCAGTCTATTA	0.393		NaN											0	0	0	0.080935	0	11	43				
PIGU	128869	broad.mit.edu	37	20	33162908	33162908	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:33162908C>T	uc002xas.2	-	11	1394	c.1194G>A	c.(1192-1194)CAG>CAA	p.Q398Q	PIGU_uc010zul.1_Silent_p.Q398Q|PIGU_uc002xat.2_Silent_p.Q378Q	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	398	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0						TCCCTCTTACCTGCCCAACGT	0.483		NaN											0	0	0	0.086207	0	37	81				
TGM2	7052	broad.mit.edu	37	20	36760817	36760817	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:36760817G>A	uc002xhr.2	-	11	1801	c.1701C>T	c.(1699-1701)CTC>CTT	p.L567L	TGM2_uc002xhq.2_Silent_p.L168L|TGM2_uc010zvx.1_Silent_p.L486L|TGM2_uc010zvy.1_Silent_p.L507L|TGM2_uc002xhs.1_Silent_p.L543L	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	567					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CTGGCTCCACGAGGAGGGCCC	0.557		NaN											0	0	0	0.048971	0	93	216				
KCNB1	3745	broad.mit.edu	37	20	47991418	47991418	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:47991418G>A	uc002xur.1	-	2	843	c.679C>T	c.(679-681)CCC>TCC	p.P227S	KCNB1_uc002xus.1_Missense_Mutation_p.P227S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	227					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGCTGGGGGTTGTCTGTG	0.572		NaN											0	0	0	0.041601	0	31	41				
DIDO1	11083	broad.mit.edu	37	20	61541160	61541160	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr20:61541160G>A	uc002ydr.1	-	4	1316	c.1052C>T	c.(1051-1053)ACA>ATA	p.T351I	DIDO1_uc002yds.1_Missense_Mutation_p.T351I|DIDO1_uc002ydt.1_Missense_Mutation_p.T351I|DIDO1_uc002ydu.1_Missense_Mutation_p.T351I|DIDO1_uc002ydv.1_Missense_Mutation_p.T351I|DIDO1_uc002ydw.1_Missense_Mutation_p.T351I|DIDO1_uc002ydx.1_Missense_Mutation_p.T351I|DIDO1_uc011aao.1_Missense_Mutation_p.T351I	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	351					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TCCTATACTTGTACAATCGGT	0.453		NaN											0	0	0	0.048971	0	69	102				
KRTAP19-2	337969	broad.mit.edu	37	21	31859546	31859546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:31859546G>T	uc011acy.1	-	1	122	c.122C>A	c.(121-123)TCA>TAA	p.S41*		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	41						intermediate filament					0						TCTGTAGCATGATGGGCAGCA	0.453		NaN											1	0	2.08937e-45	0.048971	2.30589e-45	78	138				
SLC5A3	6526	broad.mit.edu	37	21	35468622	35468622	+	Silent	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:35468622G>C	uc002yto.2	+	2	1637	c.1125G>C	c.(1123-1125)CTG>CTC	p.L375L	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	375	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						TTGCAGCTCTGATGAGTGACT	0.493		NaN											0	0	0	0.0918	0	24	45				
RRP1B	23076	broad.mit.edu	37	21	45106729	45106729	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr21:45106729G>T	uc002zdk.2	+	12	1168	c.1054G>T	c.(1054-1056)GAT>TAT	p.D352Y	RRP1B_uc002zdl.2_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	352					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CATTTCTGCTGATGAAGATGA	0.428		NaN											1	0	2.47316e-13	0.059317	2.59499e-13	35	84				
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:30200815C>T	uc003agr.2	-	13	1270	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.E389K|ASCC2_uc011akr.1_Missense_Mutation_p.E313K	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547		NaN											0	0	0	0.048971	0	97	315				
IL2RB	3560	broad.mit.edu	37	22	37524480	37524480	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr22:37524480G>C	uc003aqv.1	-	10	1443	c.1312C>G	c.(1312-1314)CCC>GCC	p.P438A		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	438	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGGCTGGGGCCACCGAGG	0.672		NaN											0	0	0	0.076483	0	23	23				
LRRN1	57633	broad.mit.edu	37	3	3887651	3887651	+	Silent	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:3887651G>A	uc003bpt.3	+	2	2087	c.1326G>A	c.(1324-1326)ACG>ACA	p.T442T	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	442	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGGCACGACGGTTTTCCTAG	0.448		NaN											0	0	0	0.045705	0	31	102				
ATG7	10533	broad.mit.edu	37	3	11340868	11340868	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:11340868T>C	uc003bwc.2	+	3	310	c.193T>C	c.(193-195)TTG>CTG	p.L65L	ATG7_uc003bwd.2_Silent_p.L65L|ATG7_uc011aum.1_Silent_p.L65L	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	65					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						TCGCTTAACATTGGAGTTCAG	0.393		NaN											0	0	0	0.048971	0	50	147				
LRRFIP2	9209	broad.mit.edu	37	3	37125241	37125241	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37125241C>A	uc003cgp.2	-	20	1587	c.1164G>T	c.(1162-1164)CAG>CAT	p.Q388H	LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q204H|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q156H|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q132H	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	388	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CATTGTCTAACTGTGCATTGG	0.348		NaN											1	0	2.4624e-09	0.049695	2.53377e-09	19	74				
GOLGA4	2803	broad.mit.edu	37	3	37336557	37336557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:37336557C>G	uc003cgv.2	+	6	974	c.670C>G	c.(670-672)CTC>GTC	p.L224V	GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.L246V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L105V	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	224	Potential.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TATCAGTGTTCTCCAAACTCA	0.363		NaN											0	0	0	0.064281	0	36	85				
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs144180122	by1000genomes	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:51743211G>A	uc010hlv.2	+	2	451	c.212G>A	c.(211-213)CGC>CAC	p.R71H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	71	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGGACCGCATCAACCGT	0.632		NaN											0	0	0	0.048971	0	52	202				
ERC2	26059	broad.mit.edu	37	3	56468686	56468686	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:56468686T>C	uc003dhr.1	-	2	606	c.350A>G	c.(349-351)TAC>TGC	p.Y117C		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	117						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGATCTGTGTATGAAAGGAC	0.507		NaN											0	0	0	0.048971	0	69	174				
MGLL	11343	broad.mit.edu	37	3	127439916	127439916	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:127439916C>G	uc003ejx.2	-	5	605	c.460G>C	c.(460-462)GAA>CAA	p.E154Q	MGLL_uc003ejw.2_Missense_Mutation_p.E164Q|MGLL_uc011bko.1_Missense_Mutation_p.E164Q|MGLL_uc010hsp.1_Missense_Mutation_p.E154Q|MGLL_uc003ejv.2_Missense_Mutation_p.E128Q	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	monoglyceride lipase isoform 2	154					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity				0						GTTGCAGATTCAGGATTGGCA	0.537		NaN											0	0	0	0.037714	0	26	85				
ECE2	9718	broad.mit.edu	37	3	183995773	183995773	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:183995773C>G	uc003fni.3	+	5	931	c.893C>G	c.(892-894)TCT>TGT	p.S298C	ECE2_uc011brg.1_Missense_Mutation_p.S226C|ECE2_uc011brh.1_Missense_Mutation_p.S151C|ECE2_uc003fnl.3_Missense_Mutation_p.S226C|ECE2_uc003fnm.3_Missense_Mutation_p.S180C|ECE2_uc003fnk.3_Missense_Mutation_p.S151C|ECE2_uc011bri.1_Missense_Mutation_p.S213C|ECE2_uc010hxv.2_Translation_Start_Site	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	298	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTACCTATCTTGCCTACAG	0.562		NaN											0	0	0	0.086207	0	40	115				
ST6GAL1	6480	broad.mit.edu	37	3	186760727	186760727	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:186760727G>T	uc003frb.2	+	4	668	c.236G>T	c.(235-237)GGC>GTC	p.G79V	ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.G79V	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	79	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CAGACCCTCGGCAGTCTCAGA	0.567		NaN											1	0	9.85913e-13	0.11126	1.02439e-12	43	137				
LMLN	89782	broad.mit.edu	37	3	197726164	197726164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:197726164C>G	uc011buo.1	+	11	1205	c.1183C>G	c.(1183-1185)CAG>GAG	p.Q395E	LMLN_uc003fyt.2_Missense_Mutation_p.Q343E|LMLN_uc010iar.2_Missense_Mutation_p.Q395E|LMLN_uc010ias.2_Missense_Mutation_p.Q343E|LMLN_uc003fyu.2_Missense_Mutation_p.Q155E	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	395					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCACACTCAGAATCGAGT	0.388		NaN											0	0	0	0.043863	0	17	58				
RNF212	285498	broad.mit.edu	37	4	1107304	1107304	+	Translation_Start_Site	SNP	A	A	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:1107304A>T	uc003gcj.2	-	1	279	c.-51T>A	c.(-53--49)CCTTG>CCATG		RNF212_uc003gci.2_Translation_Start_Site|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Translation_Start_Site|RNF212_uc003gck.2_Translation_Start_Site	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a								zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		AGCCCACGCAAGGTTGGGACC	0.736		NaN											0	0	0	0.080935	0	10	17				
KIAA0232	9778	broad.mit.edu	37	4	6862671	6862671	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:6862671C>G	uc003gjr.3	+	7	1025	c.562C>G	c.(562-564)CTG>GTG	p.L188V	KIAA0232_uc003gjq.3_Missense_Mutation_p.L188V	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	188							ATP binding			ovary(2)	2						ACCAGTTTGCCTGCAAGAAAT	0.408		NaN											0	0	0	0.048971	0	50	97				
CC2D2A	57545	broad.mit.edu	37	4	15542459	15542459	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:15542459G>A	uc010idv.2	+	18	2249	c.2004_splice	c.e18-1	p.R668_splice	CC2D2A_uc003gnx.2_Splice_Site_p.R619_splice|CC2D2A_uc003gnz.1_Splice_Site|CC2D2A_uc003goa.1_Splice_Site	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform						cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						TCCTTTTGCAGAGCGGAGGTC	0.433		NaN											0	0	0	0.004672	0	3	10				
UCHL1	7345	broad.mit.edu	37	4	41263746	41263746	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:41263746C>T	uc003gvo.2	+	5	436	c.340C>T	c.(340-342)CTG>TTG	p.L114L	UCHL1_uc003gvp.2_Silent_p.L33L|UCHL1_uc003gvq.2_Silent_p.L33L|UCHL1_uc003gvr.2_Silent_p.L33L|UCHL1_uc003gvs.2_Silent_p.L33L	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	114					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|skin(1)	2						TGGATCAGTTCTGAAACAGTT	0.343		NaN											0	0	0	0.038395	0	18	41				
LPHN3	23284	broad.mit.edu	37	4	62813863	62813863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:62813863T>C	uc010ihh.2	+	14	2643	c.2470T>C	c.(2470-2472)TCC>CCC	p.S824P	LPHN3_uc003hcq.3_Missense_Mutation_p.S824P|LPHN3_uc003hct.2_Missense_Mutation_p.S217P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	811	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTGGAGCTACTCCAAGCGTAC	0.373		NaN											0	0	0	0.02938	0	6	15				
SHROOM3	57619	broad.mit.edu	37	4	77357255	77357255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:77357255C>G	uc011cbx.1	+	1	1003	c.50C>G	c.(49-51)TCT>TGT	p.S17C		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	17					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			ACATTAAACTCTAACACGGCC	0.483		NaN											0	0	0	0.048971	0	66	131				
ATOH1	474	broad.mit.edu	37	4	94750250	94750250	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr4:94750250G>T	uc003hta.1	+	1	173	c.173G>T	c.(172-174)AGC>ATC	p.S58I		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	58					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCCTGGACAGCACCGACCCA	0.677		NaN											1	0	1.16021e-09	0.034045	1.19963e-09	27	47				
ADCY2	108	broad.mit.edu	37	5	7695949	7695949	+	Silent	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:7695949C>G	uc003jdz.1	+	6	1021	c.954C>G	c.(952-954)CTC>CTG	p.L318L	ADCY2_uc011cmo.1_Silent_p.L138L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	318	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGAATGAGCTCTTTGGAAAGT	0.433		NaN											0	0	0	0.0333	0	14	33				
MARCH11	441061	broad.mit.edu	37	5	16067768	16067768	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:16067768T>C	uc003jfo.2	-	4	1234	c.1021A>G	c.(1021-1023)AGT>GGT	p.S341G	MARCH11_uc010itw.1_Missense_Mutation_p.S97G	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	341						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						AAAGTCCTACTTGTGGAAGAC	0.473		NaN											0	0	0	0.108266	0	28	62				
BASP1	10409	broad.mit.edu	37	5	17275799	17275799	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:17275799C>T	uc003jfx.2	+	2	653	c.474C>T	c.(472-474)GCC>GCT	p.A158A		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	158					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						CAGCTCCTGCCGCCCAGGAGA	0.517		NaN											0	0	0	0.02938	0	6	15				
ANKRD55	79722	broad.mit.edu	37	5	55407474	55407475	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:55407474_55407475CC>AA	uc003jqu.2	-	10	1252_1253	c.1100_1101GG>TT	c.(1099-1101)AGG>ATT	p.R367I	ANKRD55_uc003jqt.2_Missense_Mutation_p.R79I	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	366										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTATCGGTCCCTGCTGGGATC	0.505		NaN											0	0	0	0.004672	0	81	185				
ZNF608	57507	broad.mit.edu	37	5	123983602	123983602	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:123983602T>C	uc003ktq.1	-	4	2598	c.2475A>G	c.(2473-2475)AAA>AAG	p.K825K	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.K825K|ZNF608_uc003ktt.1_Silent_p.K825K	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	825						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCCCGTCTCTTTCCCTTCTT	0.473		NaN											0	0	0	0.048971	0	76	174				
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:127674667C>T	uc003kuu.2	-	26	3869	c.3430G>A	c.(3430-3432)GAA>AAA	p.E1144K	FBN2_uc003kuv.2_Missense_Mutation_p.E1111K	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1144	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507		NaN											0	0	0	0.054565	0	32	84				
REEP2	51308	broad.mit.edu	37	5	137777134	137777134	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:137777134G>A	uc003lcz.2	+	3	288	c.166G>A	c.(166-168)GAT>AAT	p.D56N	REEP2_uc003lda.2_Missense_Mutation_p.D56N|REEP2_uc011cyt.1_Missense_Mutation_p.D17N	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	56						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACGCTCACGGATATAGTGCT	0.602		NaN											0	0	0	0.050027	0	29	57				
PCDHA4	56144	broad.mit.edu	37	5	140188665	140188665	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140188665C>T	uc003lhi.2	+	1	1994	c.1893C>T	c.(1891-1893)ATC>ATT	p.I631I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.I631I|PCDHA4_uc011daa.1_Silent_p.I631I	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	631	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGAGATCAGCACAACGC	0.682		NaN											0	0	0	0.048971	0	59	132				
PCDHGB1	56104	broad.mit.edu	37	5	140730728	140730728	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr5:140730728G>A	uc003ljo.1	+	1	901	c.901G>A	c.(901-903)GGC>AGC	p.G301S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.G301S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	301	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAACCAATGGCACATTGGA	0.418		NaN											0	0	0	0.048971	0	47	97				
FOXC1	2296	broad.mit.edu	37	6	1612318	1612318	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:1612318C>T	uc003mtp.2	+	1	1638	c.1638C>T	c.(1636-1638)TTC>TTT	p.F546F		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	546					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CCGGAGCTTTCGTCTACGACT	0.498		NaN											0	0	0	0.105934	0	14	21				
HLA-DMB	3109	broad.mit.edu	37	6	32906580	32906580	+	Missense_Mutation	SNP	G	G	A	rs12176347		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:32906580G>A	uc003ocl.1	-	2	451	c.218C>T	c.(217-219)GCG>GTG	p.A73V	HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	73	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						GAGGACATTCGCCAAGCTATT	0.527		NaN											0	0	0	0.045515	0	47	80				
RWDD2A	112611	broad.mit.edu	37	6	83905938	83905938	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:83905938G>C	uc003pjx.3	+	3	1097	c.826G>C	c.(826-828)GAG>CAG	p.E276Q	PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.E201Q	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	276											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GCACAAAAGTGAGCATGTTTT	0.363		NaN											0	0	0	0.069288	0	23	55				
PRSS35	167681	broad.mit.edu	37	6	84234199	84234199	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:84234199G>A	uc003pjz.2	+	2	1202	c.1039G>A	c.(1039-1041)GGT>AGT	p.G347S	PRSS35_uc010kbm.2_Missense_Mutation_p.G347S	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	347	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTCCACCGGTTCGGGGGT	0.512		NaN											0	0	0	0.048971	0	52	72				
SFRS18	25957	broad.mit.edu	37	6	99848724	99848724	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:99848724A>G	uc003ppo.3	-	12	2338	c.2110T>C	c.(2110-2112)TTC>CTC	p.F704L	SFRS18_uc003ppl.2_Missense_Mutation_p.F250L|SFRS18_uc003ppp.3_Missense_Mutation_p.F704L|SFRS18_uc011eag.1_Missense_Mutation_p.F704L	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	704						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TGACTACTGAACTTAAAATCt	0.169		NaN											0	0	0	0.105934	0	14	29				
LAMA2	3908	broad.mit.edu	37	6	129794495	129794495	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:129794495G>C	uc003qbn.2	+	51	7542	c.7437G>C	c.(7435-7437)TTG>TTC	p.L2479F	LAMA2_uc003qbo.2_Missense_Mutation_p.L2479F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2479	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGAAACTTGAGGTAATTTA	0.333		NaN											0	0	0	0.099896	0	26	48				
OLIG3	167826	broad.mit.edu	37	6	137815072	137815072	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:137815072T>A	uc003qhp.1	-	1	460	c.236A>T	c.(235-237)CAG>CTG	p.Q79L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	79	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGTAGGTCCTGCTCCGACAG	0.597		NaN											0	0	0	0.048971	0	63	120				
TWISTNB	221830	broad.mit.edu	37	7	19738064	19738064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:19738064C>T	uc003sup.1	-	4	913	c.892G>A	c.(892-894)GAC>AAC	p.D298N		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	298	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1						CCACTGGAGTCACTGCCTTGG	0.423		NaN											0	0	0	0.048971	0	208	207				
DNAH11	8701	broad.mit.edu	37	7	21857887	21857887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:21857887G>A	uc003svc.2	+	66	10673	c.10642G>A	c.(10642-10644)GAA>AAA	p.E3548K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3548	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CATCTTAATTGAAAATCTCGA	0.328		NaN							Kartagener_syndrome				0	0	0	0.104719	0	38	22				
AMPH	273	broad.mit.edu	37	7	38475976	38475976	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:38475976C>T	uc003tgu.2	-	12	1099	c.1030G>A	c.(1030-1032)GAG>AAG	p.E344K	AMPH_uc003tgv.2_Missense_Mutation_p.E344K|AMPH_uc003tgt.2_Missense_Mutation_p.E97K	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	344					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TTCTTCACCTCAGGGACTTCA	0.428		NaN											0	0	0	0.050027	0	32	33				
GRB10	2887	broad.mit.edu	37	7	50663213	50663213	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:50663213C>A	uc003tpi.2	-	15	1590	c.1559G>T	c.(1558-1560)CGT>CTT	p.R520L	GRB10_uc003tph.3_Missense_Mutation_p.R462L|GRB10_uc003tpj.2_Missense_Mutation_p.R474L|GRB10_uc003tpk.2_Missense_Mutation_p.R520L|GRB10_uc010kzb.2_Missense_Mutation_p.R462L|GRB10_uc003tpl.2_Missense_Mutation_p.R514L|GRB10_uc003tpm.2_Missense_Mutation_p.R462L|GRB10_uc003tpn.2_Missense_Mutation_p.R462L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	520	SH2.			R->K: No effect on NEDD4-binding. No effect on the disruption of the interaction between INSR and IRS1 and IRS2.	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	p.R520H(1)		lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CTGGCTGTCACGGAGGAGAAA	0.303		NaN							Russell-Silver_syndrome				1	0	6.95862e-65	0.048971	7.71972e-65	137	152				
MUC17	140453	broad.mit.edu	37	7	100681563	100681563	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100681563C>T	uc003uxp.1	+	3	6919	c.6866C>T	c.(6865-6867)ACG>ATG	p.T2289M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2289	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.478		NaN											0	0	0	0.048971	0	292	342				
RELN	5649	broad.mit.edu	37	7	103368593	103368593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:103368593C>T	uc003vca.2	-	7	878	c.718G>A	c.(718-720)GTC>ATC	p.V240I	RELN_uc010liz.2_Missense_Mutation_p.V240I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	240					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAAGGTGACGGCATTGCCA	0.433		NaN											0	0	0	0.048971	0	50	59				
OR2F1	26211	broad.mit.edu	37	7	143657782	143657782	+	Missense_Mutation	SNP	C	C	A	rs73464588	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:143657782C>A	uc003wds.1	+	1	763	c.719C>A	c.(718-720)ACG>AAG	p.T240K		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GCTTTCCACACGTGTGCCTCT	0.507		NaN											1	0	8.70839e-23	0.048971	9.41567e-23	80	90				
ZNF862	643641	broad.mit.edu	37	7	149558887	149558887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:149558887G>A	uc010lpn.2	+	7	2830	c.2638G>A	c.(2638-2640)GAG>AAG	p.E880K	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CGTGGCACTGGAGAGCCTCCG	0.602		NaN											0	0	0	0.069456	0	39	37				
DPP6	1804	broad.mit.edu	37	7	154564587	154564587	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:154564587C>T	uc003wlk.2	+	10	1200	c.1071C>T	c.(1069-1071)CAC>CAT	p.H357H	DPP6_uc003wli.2_Silent_p.H293H|DPP6_uc003wlm.2_Silent_p.H295H|DPP6_uc011kvq.1_Silent_p.H250H	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	357	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTCCCTACACGTTATTGGCT	0.453		NaN											0	0	0	0.038395	0	17	13				
MYOM2	9172	broad.mit.edu	37	8	2044236	2044236	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:2044236G>A	uc003wpx.3	+	18	2413	c.2275G>A	c.(2275-2277)GAG>AAG	p.E759K	MYOM2_uc011kwi.1_Missense_Mutation_p.E184K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	759	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAACTGGCACGAGGTCAATTC	0.493		NaN											0	0	0	0.069288	0	23	49				
DOCK5	80005	broad.mit.edu	37	8	25267711	25267711	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:25267711C>G	uc003xeg.2	+	51	5638	c.5501C>G	c.(5500-5502)TCC>TGC	p.S1834C	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1834	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGAGGAACTCCACTGAGGTA	0.592		NaN											0	0	0	0.024245	0	15	29				
RB1CC1	9821	broad.mit.edu	37	8	53568651	53568651	+	Silent	SNP	T	T	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:53568651T>C	uc003xre.3	-	15	4296	c.3738A>G	c.(3736-3738)CTA>CTG	p.L1246L	RB1CC1_uc003xrf.3_Silent_p.L1246L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1246	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAAATTCTTTTAGGGCAGTCT	0.328		NaN											0	0	0	0.041601	0	30	46				
C8orf44	56260	broad.mit.edu	37	8	67590131	67590131	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:67590131A>G	uc003xwo.1	+	2	341	c.188A>G	c.(187-189)AAA>AGA	p.K63R	SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.K63R	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	63											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggagttcgaaaccagcctgg	0.035		NaN											0	0	0	0.02938	0	5	29				
SLCO5A1	81796	broad.mit.edu	37	8	70588853	70588853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:70588853G>A	uc003xyl.2	-	9	2787	c.2080C>T	c.(2080-2082)CGA>TGA	p.R694*	SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.R639*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	694	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAAGTGTTCGCAACAAAACA	0.418		NaN											0	0	0	0.043863	0	20	48				
PDP1	54704	broad.mit.edu	37	8	94934630	94934630	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:94934630A>G	uc003yge.2	+	2	612	c.343A>G	c.(343-345)AAT>GAT	p.N115D	PDP1_uc003ygf.2_Missense_Mutation_p.N140D|PDP1_uc010max.2_Missense_Mutation_p.N140D|PDP1_uc011lgm.1_Missense_Mutation_p.N115D|PDP1_uc011lgn.1_Missense_Mutation_p.N174D	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	115				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480).	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						ATTTGACAGCAATCAGCTGCC	0.468		NaN											0	0	0	0.104719	0	41	117				
COL22A1	169044	broad.mit.edu	37	8	139609214	139609214	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr8:139609214C>T	uc003yvd.2	-	62	4813	c.4366_splice	c.e62-1	p.G1456_splice	COL22A1_uc011ljo.1_Splice_Site_p.G736_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGACTCCCCCTAGGAGGGAG	0.507		NaN								HNSCC(7;0.00092)			0	0	0	0.11126	0	44	84				
ZNF510	22869	broad.mit.edu	37	9	99522006	99522006	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:99522006C>T	uc004awn.1	-	6	1295	c.1106G>A	c.(1105-1107)AGA>AAA	p.R369K	ZNF510_uc004awo.1_Missense_Mutation_p.R369K	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				AGTCTGTGTTCTGTCATTACT	0.388		NaN											0	0	0	0.048971	0	56	41				
HSDL2	84263	broad.mit.edu	37	9	115171290	115171290	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115171290C>T	uc004bga.1	+	4	477	c.384C>T	c.(382-384)GGC>GGT	p.G128G	HSDL2_uc011lwv.1_Silent_p.G7G|HSDL2_uc004bgb.1_Intron|HSDL2_uc004bgc.1_Intron|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	128						peroxisome	oxidoreductase activity|sterol binding				0						ACACCAGAGGCACCTACCTTG	0.418		NaN											0	0	0	0.050027	0	28	59				
ZFP37	7539	broad.mit.edu	37	9	115805288	115805288	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805288C>G	uc004bgm.1	-	4	1638	c.1610G>C	c.(1609-1611)AGA>ACA	p.R537T	ZFP37_uc011lwz.1_Missense_Mutation_p.R552T|ZFP37_uc011lxa.1_Missense_Mutation_p.R538T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	537	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AGTATGAACTCTCTGATGTTG	0.403		NaN											0	0	0	0.041601	0	30	47				
ZFP37	7539	broad.mit.edu	37	9	115805738	115805738	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115805738C>G	uc004bgm.1	-	4	1188	c.1160G>C	c.(1159-1161)AGA>ACA	p.R387T	ZFP37_uc011lwz.1_Missense_Mutation_p.R402T|ZFP37_uc011lxa.1_Missense_Mutation_p.R388T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	387	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TGAGCTGTGTCTGAAGGTTTT	0.413		NaN											0	0	0	0.092188	0	41	82				
ZFP37	7539	broad.mit.edu	37	9	115806346	115806346	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806346C>T	uc004bgm.1	-	4	580	c.552G>A	c.(550-552)TTG>TTA	p.L184L	ZFP37_uc011lwz.1_Silent_p.L199L|ZFP37_uc011lxa.1_Silent_p.L185L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AATTCTGTTTCAAAATTTTTC	0.333		NaN											0	0	0	0.069456	0	39	63				
ZFP37	7539	broad.mit.edu	37	9	115806541	115806541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:115806541C>G	uc004bgm.1	-	4	385	c.357G>C	c.(355-357)CAG>CAC	p.Q119H	ZFP37_uc011lwz.1_Missense_Mutation_p.Q134H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q120H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	119						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CATCATCTTTCTGGACTTCTA	0.353		NaN											0	0	0	0.0918	0	26	54				
LRSAM1	90678	broad.mit.edu	37	9	130217858	130217858	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:130217858C>G	uc004brb.1	+	5	478	c.133C>G	c.(133-135)CCA>GCA	p.P45A	LRSAM1_uc010mxk.1_Missense_Mutation_p.P45A|LRSAM1_uc004brc.1_Missense_Mutation_p.P45A|LRSAM1_uc004brd.1_Missense_Mutation_p.P45A	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	45	LRR 1.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						ATCTTAGATTCCATTTGGAGC	0.438		NaN											0	0	0	0.030593	0	29	60				
FAM78A	286336	broad.mit.edu	37	9	134136337	134136337	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:134136337T>G	uc004cak.2	-	2	1064	c.724A>C	c.(724-726)ATC>CTC	p.I242L	FAM78A_uc004caj.2_Missense_Mutation_p.I239L	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	242										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TTGCTCAGGATTTTGGGCTGG	0.682		NaN											0	0	0	0.048971	0	58	111				
GTF3C4	9329	broad.mit.edu	37	9	135555086	135555086	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr9:135555086G>A	uc010mzv.2	+	2	2338	c.2080G>A	c.(2080-2082)GAA>AAA	p.E694K	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	694					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGTCTTAGGAGAAGTGTATCT	0.478		NaN											0	0	0	0.030593	0	30	53				
FAM9B	171483	broad.mit.edu	37	X	8997436	8997436	+	Missense_Mutation	SNP	G	G	A	rs12839241		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:8997436G>A	uc011mhu.1	-	5	394	c.305C>T	c.(304-306)TCT>TTT	p.S102F	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.S142F	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	102						nucleus					0		Hepatocellular(5;0.219)				CAACTTCAGAGAATGTATATA	0.294		NaN											0	0	0	0.09319	0	12	36				
TSPAN6	7105	broad.mit.edu	37	X	99888429	99888429	+	Silent	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:99888429C>T	uc004ega.1	-	5	661	c.558G>A	c.(556-558)CAG>CAA	p.Q186Q	TSPAN6_uc010nna.1_Silent_p.Q92Q	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	186	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						CTGCATCTCTCTGTGGAGTAC	0.338		NaN											0	0	0	0.037714	0	29	19				
LAMP2	3920	broad.mit.edu	37	X	119589270	119589270	+	Silent	SNP	G	G	A	rs147369153	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:119589270G>A	uc004est.3	-	3	519	c.339C>T	c.(337-339)AGC>AGT	p.S113S	LAMP2_uc004ess.3_Silent_p.S113S|LAMP2_uc011mtz.1_Intron|LAMP2_uc011mua.1_Silent_p.S66S|LAMP2_uc010nqp.1_Silent_p.S113S	NM_002294	NP_002285	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2 isoform	113	Lumenal (Potential).|First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				ovary(1)	1						AAAATGAGACGCTGTCAATTG	0.403		NaN											0	0	0	0.064281	0	35	24				
MAGEC1	9947	broad.mit.edu	37	X	140993238	140993238	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140993238G>C	uc004fbt.2	+	4	334	c.48G>C	c.(46-48)CAG>CAC	p.Q16H	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	16							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTCCAGAGTTCCTCTG	0.463		NaN								HNSCC(15;0.026)			0	0	0	0.039052	0	45	48				
MAGEC1	9947	broad.mit.edu	37	X	140995384	140995384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:140995384C>T	uc004fbt.2	+	4	2480	c.2194C>T	c.(2194-2196)CAG>TAG	p.Q732*	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	732							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCTCCTCAGGGGGAGGA	0.542		NaN								HNSCC(15;0.026)			0	0	0	0.048971	0	100	84				
MTMR1	8776	broad.mit.edu	37	X	149900044	149900044	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:149900044G>A	uc004fei.2	+	8	955	c.820G>A	c.(820-822)GAT>AAT	p.D274N	MTMR1_uc011mya.1_Missense_Mutation_p.D180N|MTMR1_uc004feg.1_Missense_Mutation_p.D274N|MTMR1_uc004feh.1_Missense_Mutation_p.D282N|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	274	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAAAAGATGATGACCTTTC	0.358		NaN											0	0	0	0.048971	0	52	30				
DUSP9	1852	broad.mit.edu	37	X	152915679	152915679	+	Silent	SNP	G	G	T	rs139744131	byFrequency	TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chrX:152915679G>T	uc004fhx.3	+	4	1278	c.1074G>T	c.(1072-1074)GGG>GGT	p.G358G	DUSP9_uc004fhy.3_Silent_p.G358G	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	358	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGGGGGGCAGGCATCTG	0.672		NaN											1	0	0.00198382	0.02938	0.00199318	7	117				
MFN2	9927	broad.mit.edu	37	1	12065806	12065806	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:12065806C>G	uc001atn.3	+	15	1987	c.1534C>G	c.(1534-1536)CAG>GAG	p.Q512E	MFN2_uc009vni.2_Missense_Mutation_p.Q512E	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	512	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCGGAGTCAGATAGACAT	0.512		NaN											0	0	0	0.00361	0	78	287				
EYA3	2140	broad.mit.edu	37	1	28362171	28362171	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28362171G>C	uc001bpi.1	-	6	410	c.245C>G	c.(244-246)TCA>TGA	p.S82*	EYA3_uc010ofs.1_Nonsense_Mutation_p.S29*|EYA3_uc010oft.1_Nonsense_Mutation_p.S82*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S82*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	82					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGGAACTGAGAGAATATG	0.398		NaN											0	0	0	0.001984	0	7	134				
PHACTR4	65979	broad.mit.edu	37	1	28817515	28817515	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:28817515C>G	uc001bpw.2	+	11	2151	c.1869C>G	c.(1867-1869)CTC>CTG	p.L623L	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.L607L|PHACTR4_uc001bpy.2_Silent_p.L633L|PHACTR4_uc001bpz.2_5'Flank	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	623	RPEL 3.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AACGTCGGCTCACTAGAAAGG	0.333		NaN											0	0	0	0.004482	0	9	74				
KDM4A	9682	broad.mit.edu	37	1	44156655	44156655	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:44156655A>T	uc001cjx.2	+	14	2343	c.2177A>T	c.(2176-2178)TAT>TTT	p.Y726F	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	726	PHD-type 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TCTACTCCTTATCTTGAGGAG	0.532		NaN											0	0	0	0.00361	0	60	379				
DENND2C	163259	broad.mit.edu	37	1	115168392	115168392	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:115168392C>T	uc001efd.1	-	4	916	c.214G>A	c.(214-216)GAT>AAT	p.D72N	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D72N	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	72										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTTACATCCAAGTTTTTG	0.363		NaN											0	0	0	0.003954	0	26	171				
FLG2	388698	broad.mit.edu	37	1	152323576	152323576	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152323576G>A	uc001ezw.3	-	3	6759	c.6686C>T	c.(6685-6687)ACC>ATC	p.T2229I	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2229							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTAGTGGTATCTCCTGT	0.527		NaN											0	0	0	0.00361	0	203	475				
FLG2	388698	broad.mit.edu	37	1	152325626	152325626	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:152325626G>T	uc001ezw.3	-	3	4709	c.4636C>A	c.(4636-4638)CAG>AAG	p.Q1546K	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1546							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGTCTGTCCATGAGTA	0.483		NaN											1	0	7.82978e-24	0.00361	8.90638e-24	65	434				
PBXIP1	57326	broad.mit.edu	37	1	154920741	154920741	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154920741G>C	uc001ffr.2	-	6	570	c.511C>G	c.(511-513)CAG>GAG	p.Q171E	PBXIP1_uc001ffs.2_Missense_Mutation_p.Q142E|PBXIP1_uc010pep.1_Missense_Mutation_p.Q16E	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	171					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATGGGCTGAGGTGGGCCG	0.692		NaN											0	0	0	0.001168	0	5	13				
ZBTB7B	51043	broad.mit.edu	37	1	154988787	154988787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:154988787G>A	uc001fgk.3	+	4	1404	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	ZBTB7B_uc009wpa.2_Missense_Mutation_p.D416N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D450N|ZBTB7B_uc010peq.1_Missense_Mutation_p.D450N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D416N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	416	C2H2-type 3.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGCTACGACCTCAAGAA	0.627		NaN											0	0	0	0.008361	0	32	91				
DPM3	54344	broad.mit.edu	37	1	155112686	155112686	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:155112686G>A	uc001fhn.2	-	2	66	c.31C>T	c.(31-33)CTA>TTA	p.L11L	RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.L41L	NM_153741	NP_714963	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase	11	Helical; (Potential).				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATCGCTAGTCCCCAAAGC	0.478		NaN											0	0	0	0.002836	0	32	43				
PAPPA2	60676	broad.mit.edu	37	1	176525600	176525600	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:176525600G>A	uc001gkz.2	+	2	1306	c.142G>A	c.(142-144)GAA>AAA	p.E48K	PAPPA2_uc001gky.1_Missense_Mutation_p.E48K|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	48					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTTGGAAGGAGAACGTTGTTG	0.572		NaN											0	0	0	0.00308	0	7	152				
FAM5C	339479	broad.mit.edu	37	1	190068168	190068168	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:190068168C>T	uc001gse.1	-	8	1513	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T	FAM5C_uc010pot.1_Silent_p.T325T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	427						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CATTCGGACACGTGCACGAGT	0.587		NaN											0	0	0	0.000602	0	4	58				
TTC13	79573	broad.mit.edu	37	1	231060618	231060618	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:231060618C>G	uc001huf.3	-	14	1721	c.1690G>C	c.(1690-1692)GAC>CAC	p.D564H	TTC13_uc009xfi.2_Missense_Mutation_p.D511H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.D511H|TTC13_uc009xfk.1_Missense_Mutation_p.D454H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	564							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAAACATGTCTCTCCACTGC	0.423		NaN											0	0	0	0.007291	0	27	164				
SIPA1L2	57568	broad.mit.edu	37	1	232649719	232649719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:232649719G>C	uc001hvg.2	-	1	1525	c.1367C>G	c.(1366-1368)TCC>TGC	p.S456C		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCAAGACGGAGACACCTGC	0.498		NaN											0	0	0	0.005443	0	26	210				
FMN2	56776	broad.mit.edu	37	1	240370532	240370532	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:240370532T>C	uc010pyd.1	+	5	2645	c.2420T>C	c.(2419-2421)ATC>ACC	p.I807T	FMN2_uc010pye.1_Missense_Mutation_p.I811T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	807	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACAGAGCATCTCACAGCCT	0.527		NaN											0	0	0	0.000602	0	5	92				
ZNF695	57116	broad.mit.edu	37	1	247151507	247151507	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr1:247151507C>A	uc009xgu.2	-	4	455	c.310G>T	c.(310-312)GTT>TTT	p.V104F	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.V104F|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.V92F	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	104					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGAATGAAACTTGCAGGCCC	0.373		NaN											1	0	6.57855e-14	0.009718	7.33038e-14	45	111				
TUBAL3	79861	broad.mit.edu	37	10	5436157	5436157	+	Missense_Mutation	SNP	G	G	A	rs149499697	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:5436157G>A	uc001ihy.2	-	4	704	c.664C>T	c.(664-666)CGT>TGT	p.R222C	TUBAL3_uc001ihz.2_Missense_Mutation_p.R182C	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	222					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CCGAGTTTACGATGGCATATA	0.522		NaN											0	0	0	0.001168	0	6	126				
STAM	8027	broad.mit.edu	37	10	17750829	17750829	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:17750829A>T	uc001ipj.1	+	13	1480	c.1264A>T	c.(1264-1266)ATG>TTG	p.M422L	STAM_uc009xjw.1_Missense_Mutation_p.M80L	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	422					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						GAACGCGCAGATGAGCCACCT	0.527		NaN											0	0	0	0.007835	0	41	103				
CUL2	8453	broad.mit.edu	37	10	35351949	35351949	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:35351949C>G	uc001ixv.2	-	3	371	c.161G>C	c.(160-162)GGA>GCA	p.G54A	CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.G73A|CUL2_uc001ixw.2_Missense_Mutation_p.G54A|CUL2_uc010qes.1_Missense_Mutation_p.G54A	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	54					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						AAGTCTTTCTCCAAGGGGTTC	0.299		NaN											0	0	0	0.003163	0	14	123				
BMS1	9790	broad.mit.edu	37	10	43281092	43281092	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:43281092G>C	uc001jaj.2	+	3	697	c.339G>C	c.(337-339)GAG>GAC	p.E113D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	113					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGTTGACTGAGATCAGAGGCC	0.507		NaN											0	0	0	0.00632	0	26	259				
PRF1	5551	broad.mit.edu	37	10	72358024	72358024	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:72358024G>C	uc009xqg.2	-	3	1614	c.1453C>G	c.(1453-1455)CAG>GAG	p.Q485E	PRF1_uc001jrf.3_Missense_Mutation_p.Q485E	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	485	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CCAGAGTCCTGATCCCAGACC	0.582		NaN	M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.00245	0	15	121				
PTEN	5728	broad.mit.edu	37	10	89717615	89717615	+	Nonsense_Mutation	SNP	C	C	T	rs121909227		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:89717615C>T	uc001kfb.2	+	8	1671	c.640C>T	c.(640-642)CAG>TAG	p.Q214*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	214	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q214*(8)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGATCCTCAGTTTGTGGT	0.388		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	0.00361	0	72	55		Valid		
ADRA2A	150	broad.mit.edu	37	10	112838906	112838906	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr10:112838906G>A	uc001kzo.2	+	1	2117	c.1152G>A	c.(1150-1152)GAG>GAA	p.E384E		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	369	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	AGAACCGCGAGAAGCGCTTCA	0.667		NaN											0	0	0	0.010729	0	11	66				
IGSF22	283284	broad.mit.edu	37	11	18737135	18737135	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:18737135T>A	uc009yht.2	-	11	1565	c.1375A>T	c.(1375-1377)ATG>TTG	p.M459L	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	459	Ig-like 3.									ovary(4)|large_intestine(2)|kidney(1)	7						GTGCCATGCATCAGCAGCTGC	0.537		NaN											0	0	0	0.010729	0	12	78				
MPPED2	744	broad.mit.edu	37	11	30439147	30439147	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:30439147T>C	uc001msr.2	-	4	690	c.570A>G	c.(568-570)CTA>CTG	p.L190L	MPPED2_uc001msq.3_Silent_p.L190L|MPPED2_uc009yji.2_Silent_p.L64L	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	190					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						GACCTCTGGGTAGGTTAAAGC	0.517		NaN											0	0	0	0.004672	0	3	37				
OR5L2	26338	broad.mit.edu	37	11	55595183	55595183	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:55595183T>C	uc001nhy.1	+	1	489	c.489T>C	c.(487-489)GCT>GCC	p.A163A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CGTCCTTAGCTCTTAGGATCC	0.473		NaN								HNSCC(27;0.073)			0	0	0	0.002299	0	23	475				
INTS5	80789	broad.mit.edu	37	11	62415419	62415419	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:62415419C>T	uc001nud.2	-	2	2186	c.2133G>A	c.(2131-2133)GGG>GGA	p.G711G	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	711					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						TCTCATTGTCCCCATCTACTT	0.557		NaN											0	0	0	0.001984	0	7	80				
NUDT22	84304	broad.mit.edu	37	11	63996776	63996776	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:63996776G>A	uc001nyp.3	+	4	817	c.637G>A	c.(637-639)GAG>AAG	p.E213K	NUDT22_uc009ype.2_Missense_Mutation_p.E213K|NUDT22_uc001nyq.3_Missense_Mutation_p.E180K|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety	213	Nudix hydrolase.						hydrolase activity				0						CGCCCGAAATGAGACCAGTGC	0.632		NaN											0	0	0	0.004672	0	3	11				
SPDYC	387778	broad.mit.edu	37	11	64939959	64939959	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:64939959T>C	uc010rnz.1	+	5	399	c.399T>C	c.(397-399)TTT>TTC	p.F133F		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	133	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding				0						GTGAGATTTTTCCATGGGCCC	0.557		NaN											0	0	0	0.00245	0	13	143				
LTBP3	4054	broad.mit.edu	37	11	65315511	65315511	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315511C>A	uc001oej.2	-	12	1995	c.1726G>T	c.(1726-1728)GAT>TAT	p.D576Y	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.D6Y|LTBP3_uc010roi.1_Missense_Mutation_p.D459Y|LTBP3_uc001oei.2_Missense_Mutation_p.D576Y|LTBP3_uc010roj.1_Missense_Mutation_p.D277Y|LTBP3_uc010rok.1_Missense_Mutation_p.D487Y	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	576	EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGGCACTCATCAGTCTCTGCG	0.637		NaN											1	0	3.59834e-05	0.001168	3.73515e-05	5	80				
LTBP3	4054	broad.mit.edu	37	11	65315517	65315517	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:65315517C>T	uc001oej.2	-	12	1990	c.1721_splice	c.e12-1	p.E574_splice	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.E4K|LTBP3_uc010roi.1_Splice_Site_p.E457_splice|LTBP3_uc001oei.2_Splice_Site_p.E574_splice|LTBP3_uc010roj.1_Splice_Site_p.E275_splice|LTBP3_uc010rok.1_Splice_Site_p.E485_splice	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding							extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TCATCAGTCTCTGCGGGCATG	0.637		NaN											0	0	0	0.001168	0	5	80				
SHANK2	22941	broad.mit.edu	37	11	70319061	70319061	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:70319061C>G	uc001oqc.2	-	22	5541	c.5463G>C	c.(5461-5463)CAG>CAC	p.Q1821H	SHANK2_uc010rqn.1_Missense_Mutation_p.Q1233H|SHANK2_uc001opz.2_Missense_Mutation_p.Q1226H|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.Q157H	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1442	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCCTCCTTCTGCAGGTTTG	0.493		NaN											0	0	0	0.00278	0	21	448				
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:74500681C>G	uc001ovl.3	+	2	526	c.513C>G	c.(511-513)TTC>TTG	p.F171L		NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	171							zinc ion binding			ovary(1)	1						ACTTTATATTCAGAGCACCAA	0.343		NaN											0	0	0	0.004007	0	14	228				
MTMR2	8898	broad.mit.edu	37	11	95568599	95568599	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:95568599C>G	uc001pfu.2	-	15	2040	c.1787G>C	c.(1786-1788)AGA>ACA	p.R596T	MTMR2_uc001pfv.2_Missense_Mutation_p.R524T|MTMR2_uc001pfs.2_Missense_Mutation_p.R524T|MTMR2_uc001pft.2_Missense_Mutation_p.R524T	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	596						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGTATCTGTTGTGAAT	0.408		NaN											0	0	0	0.006214	0	9	128				
TECTA	7007	broad.mit.edu	37	11	120996394	120996394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:120996394G>C	uc010rzo.1	+	7	1587	c.1587G>C	c.(1585-1587)AAG>AAC	p.K529N		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	529	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTCAACAAGACAGACGGCC	0.597		NaN											0	0	0	0.002836	0	29	189				
SNX19	399979	broad.mit.edu	37	11	130785020	130785020	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:130785020C>G	uc001qgk.3	-	1	1363	c.815G>C	c.(814-816)AGA>ACA	p.R272T	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R272T|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	272	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGCTGGATCTCTGGCCTTGGA	0.547		NaN											0	0	0	0.010504	0	20	118				
KCNA5	3741	broad.mit.edu	37	12	5153719	5153719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:5153719G>A	uc001qni.2	+	1	635	c.406G>A	c.(406-408)GGC>AGC	p.G136S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	136						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACGCAGCTGGGCACCCTGGC	0.677		NaN											0	0	0	0.001855	0	14	66				
VWF	7450	broad.mit.edu	37	12	6078463	6078463	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:6078463G>C	uc001qnn.1	-	45	7893	c.7643C>G	c.(7642-7644)TCC>TGC	p.S2548C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2548					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGGGGGCAGGAGACGTTCCT	0.607		NaN											0	0	0	0.001168	0	6	84				
CD163	9332	broad.mit.edu	37	12	7635996	7635996	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:7635996C>T	uc001qsz.3	-	12	3183	c.3055G>A	c.(3055-3057)GGG>AGG	p.G1019R	CD163_uc001qta.3_Missense_Mutation_p.G1019R|CD163_uc009zfw.2_Missense_Mutation_p.G1052R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1019	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TCCTTGTGCCCACACTCACTA	0.537		NaN											0	0	0	0.00308	0	7	56				
SLCO1A2	6579	broad.mit.edu	37	12	21427510	21427510	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:21427510A>C	uc001rer.2	-	13	1937	c.1686T>G	c.(1684-1686)CCT>CCG	p.P562P	SLCO1A2_uc001res.2_Silent_p.P562P|SLCO1A2_uc010siq.1_Silent_p.P430P|SLCO1A2_uc010sio.1_Silent_p.P430P|SLCO1A2_uc010sip.1_Silent_p.P430P	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	562	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ATATAGGTGCAGGAATGCCAG	0.363		NaN											0	0	0	0.006122	0	15	140				
SYT10	341359	broad.mit.edu	37	12	33579134	33579134	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:33579134C>G	uc001rll.1	-	2	745	c.448G>C	c.(448-450)GAA>CAA	p.E150Q	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	150	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTAAATGTTCTTTTAAAGCA	0.363		NaN											0	0	0	0.003755	0	34	317				
AMIGO2	347902	broad.mit.edu	37	12	47471606	47471606	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:47471606C>G	uc001rpm.2	-	3	1835	c.1180G>C	c.(1180-1182)GAG>CAG	p.E394Q	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.E394Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.E394Q	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	394	Extracellular (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TTAAATGCCTCATGAGCATGG	0.428		NaN											0	0	0	0.010729	0	12	63				
FMNL3	91010	broad.mit.edu	37	12	50044479	50044479	+	Silent	SNP	C	C	T	rs118114169	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:50044479C>T	uc001ruv.1	-	17	2214	c.1980G>A	c.(1978-1980)GAG>GAA	p.E660E	FMNL3_uc001ruw.1_Silent_p.E609E|FMNL3_uc001rut.1_Silent_p.E226E|FMNL3_uc001ruu.1_Silent_p.E510E	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	660	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						CCCTGCAGATCTCCTCAGCCG	0.592		NaN											0	0	0	0.000602	0	5	97				
SBNO1	55206	broad.mit.edu	37	12	123815804	123815804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:123815804C>G	uc010tap.1	-	7	1028	c.1028G>C	c.(1027-1029)AGA>ACA	p.R343T	SBNO1_uc010tao.1_Missense_Mutation_p.R342T|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R343T|SBNO1_uc001ueu.2_Missense_Mutation_p.R342T|SBNO1_uc001uev.2_Missense_Mutation_p.R341T|SBNO1_uc009zxy.1_Missense_Mutation_p.R308T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	343							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGCTCGTTTTCTACTCAACAA	0.289		NaN											0	0	0	0.00308	0	6	127				
SACS	26278	broad.mit.edu	37	13	23913766	23913766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:23913766C>T	uc001uon.2	-	10	4838	c.4249G>A	c.(4249-4251)GAA>AAA	p.E1417K	SACS_uc001uoo.2_Missense_Mutation_p.E1270K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1417					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATGATTGGTTCCACAGAATCT	0.368		NaN											0	0	0	0.004007	0	16	107				
NAA16	79612	broad.mit.edu	37	13	41946363	41946363	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr13:41946363G>A	uc001uyf.2	+	16	2296	c.1972G>A	c.(1972-1974)GTT>ATT	p.V658I	NAA16_uc010tfg.1_Intron	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	658					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						AGAGGAAGCCGTTAAGTTCCT	0.279		NaN											0	0	0	0.00361	0	62	34				
LRP10	26020	broad.mit.edu	37	14	23344898	23344898	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23344898G>A	uc001whd.2	+	5	1294	c.741G>A	c.(739-741)GTG>GTA	p.V247V	LRP10_uc001whe.2_Silent_p.V123V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	247	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GAGATGCAGTGCATGTGTATG	0.627		NaN											0	0	0	0.010729	0	11	80				
ACIN1	22985	broad.mit.edu	37	14	23548778	23548778	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:23548778G>A	uc001wit.3	-	6	2268	c.1940C>T	c.(1939-1941)TCA>TTA	p.S647L	ACIN1_uc001wis.3_Missense_Mutation_p.S329L|ACIN1_uc010akg.2_Missense_Mutation_p.S647L|ACIN1_uc010tnj.1_Missense_Mutation_p.S607L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	647	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCTTGATGCTGAACGAGAACG	0.498		NaN											0	0	0	0.00361	0	54	582				
NYNRIN	57523	broad.mit.edu	37	14	24878129	24878129	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:24878129C>T	uc001wpf.3	+	4	1447	c.1129C>T	c.(1129-1131)CTA>TTA	p.L377L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	377					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GCTGCATTCTCTACATCTGGC	0.602		NaN											0	0	0	0.008291	0	11	27				
FANCM	57697	broad.mit.edu	37	14	45658163	45658163	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:45658163A>C	uc001wwd.3	+	20	5037	c.4938A>C	c.(4936-4938)GCA>GCC	p.A1646A	FANCM_uc010anf.2_Silent_p.A1620A|FANCM_uc001wwe.3_Silent_p.A1182A|FANCM_uc010ang.2_Silent_p.A860A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1646					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CTCGACGTGCAGTAATGCTAA	0.318		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.008871	0	19	82				
PSMC6	5706	broad.mit.edu	37	14	53190725	53190725	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:53190725C>G	uc010tqx.1	+	13	1064	c.1064C>G	c.(1063-1065)GCA>GGA	p.A355G	PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					TTTAATGGAGCAGATCTGAGA	0.279		NaN											0	0	0	0.001984	0	7	97				
RTN1	6252	broad.mit.edu	37	14	60193839	60193839	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:60193839G>T	uc001xen.1	-	3	1772	c.1563C>A	c.(1561-1563)TCC>TCA	p.S521S	RTN1_uc001xem.1_Silent_p.S101S	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	521					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGTCGAGGAAGGAACCCGGCT	0.721		NaN											1	0	0.004672	0.004672	0.00475916	3	8				
COX16	51241	broad.mit.edu	37	14	70793096	70793096	+	Missense_Mutation	SNP	A	A	C	rs139121123		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:70793096A>C	uc001xmb.2	-	4	415	c.275T>G	c.(274-276)CTC>CGC	p.L92R		NM_016468	NP_057552	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog	92						integral to membrane|mitochondrial membrane					0						TCCTTGGAGGAGGTCAGGATC	0.328		NaN											0	0	0	0.009096	0	4	45				
NRXN3	9369	broad.mit.edu	37	14	79432421	79432421	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:79432421A>G	uc001xun.2	+	9	1821	c.1330A>G	c.(1330-1332)ATC>GTC	p.I444V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.I569V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	817	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGAAACGGGAATCATGACTGA	0.433		NaN											0	0	0	0.00361	0	53	37				
FLRT2	23768	broad.mit.edu	37	14	86088385	86088385	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:86088385T>C	uc001xvr.2	+	2	1294	c.527T>C	c.(526-528)GTT>GCT	p.V176A	FLRT2_uc010atd.2_Missense_Mutation_p.V176A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	176	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGCCTGTTGGGCTTCCT	0.502		NaN											0	0	0	0.013114	0	48	58				
WDR20	91833	broad.mit.edu	37	14	102675837	102675837	+	Missense_Mutation	SNP	G	G	T	rs12888595	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:102675837G>T	uc001ykz.2	+	3	1379	c.1330G>T	c.(1330-1332)GGC>TGC	p.G444C	WDR20_uc001yky.1_Missense_Mutation_p.G187C|WDR20_uc001yla.2_Missense_Mutation_p.G320C|WDR20_uc001ylb.2_Missense_Mutation_p.G383C|WDR20_uc010txu.1_Missense_Mutation_p.G475C|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G444C|WDR20_uc001yle.2_Missense_Mutation_p.G383C|WDR20_uc001ylf.2_Missense_Mutation_p.G456C	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	444											0						CTCAAATGCTGGCAGCAAAAG	0.537		NaN									OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.59834e-05	0.001168	3.73515e-05	6	104				
AHNAK2	113146	broad.mit.edu	37	14	105408168	105408168	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:105408168G>A	uc010axc.1	-	7	13740	c.13620C>T	c.(13618-13620)GCC>GCT	p.A4540A	AHNAK2_uc001ypx.2_Silent_p.A4440A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4540						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGAGGCCGGCTACCTCGG	0.632		NaN											0	0	0	0.00361	0	53	174				
APBA2	321	broad.mit.edu	37	15	29346684	29346684	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:29346684G>A	uc001zck.2	+	3	804	c.597G>A	c.(595-597)GAG>GAA	p.E199E	APBA2_uc010azj.2_Silent_p.E199E|APBA2_uc010uat.1_Silent_p.E199E|APBA2_uc001zcl.2_Silent_p.E199E|APBA2_uc010uas.1_Silent_p.E199E	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	199	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACTACCCCGAGGAGGCCAACG	0.627		NaN											0	0	0	0.001168	0	6	23				
CASC5	57082	broad.mit.edu	37	15	40916744	40916744	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:40916744G>C	uc010bbs.1	+	11	4521	c.4360G>C	c.(4360-4362)GAT>CAT	p.D1454H	CASC5_uc010ucq.1_Missense_Mutation_p.D1278H|CASC5_uc001zme.2_Missense_Mutation_p.D1428H|CASC5_uc010bbt.1_Missense_Mutation_p.D1428H	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1454					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCTTCCAAAGGATCAAATGAA	0.358		NaN											0	0	0	0.004482	0	7	144				
RAD51	5888	broad.mit.edu	37	15	41020994	41020994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:41020994C>G	uc001zmi.3	+	7	915	c.616C>G	c.(616-618)CAA>GAA	p.Q206E	RAD51_uc010bbw.2_Missense_Mutation_p.Q206E|RAD51_uc010bbx.2_Missense_Mutation_p.Q207E|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.Q207E	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1	206	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTCCTTTATCAAGCATCAGC	0.443		NaN						Homologous_recombination					0	0	0	0.004878	0	34	199				
MGA	23269	broad.mit.edu	37	15	42054514	42054514	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:42054514G>A	uc010ucy.1	+	22	7879	c.7698G>A	c.(7696-7698)AGG>AGA	p.R2566R	MGA_uc010ucz.1_Silent_p.R2357R|MGA_uc010uda.1_Silent_p.R1182R	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2527						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAATAACAGGAGGGGGAAAC	0.403		NaN											0	0	0	0.00245	0	15	64				
AQP9	366	broad.mit.edu	37	15	58465375	58465375	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:58465375G>A	uc002aez.2	+	3	704	c.347G>A	c.(346-348)GGG>GAG	p.G116E	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G51E	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	116	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		GCCTTTGTGGGGGCTGCAACC	0.453		NaN											0	0	0	0.002836	0	34	158				
ZNF609	23060	broad.mit.edu	37	15	64968122	64968122	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:64968122G>A	uc002ann.2	+	4	3069	c.3069G>A	c.(3067-3069)AAG>AAA	p.K1023K		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1023						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GAGTGGACAAGAAGGCAGAGA	0.577		NaN											0	0	0	0.002299	0	24	132				
SCAPER	49855	broad.mit.edu	37	15	76995194	76995194	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:76995194G>A	uc002bby.2	-	18	2456	c.2397C>T	c.(2395-2397)GTC>GTT	p.V799V	SCAPER_uc010bkr.2_Silent_p.V107V|SCAPER_uc002bbx.2_Silent_p.V553V|SCAPER_uc002bbz.1_Silent_p.V670V|SCAPER_uc002bca.1_Silent_p.V664V|SCAPER_uc002bcb.1_Silent_p.V805V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	798	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AACCTACCAGGACATTGCAGA	0.368		NaN											0	0	0	0.001168	0	6	131				
IREB2	3658	broad.mit.edu	37	15	78790483	78790483	+	Nonstop_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:78790483T>C	uc002bdr.2	+	22	3052	c.2890T>C	c.(2890-2892)TAG>CAG	p.*964Q	IREB2_uc010unb.1_Nonstop_Mutation_p.*714Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	964							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAAATTCTCATAGTATCTACT	0.388		NaN											0	0	0	0.006214	0	10	66				
NTRK3	4916	broad.mit.edu	37	15	88670429	88670429	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr15:88670429G>A	uc002bme.1	-	11	1419	c.1257C>T	c.(1255-1257)ATC>ATT	p.I419I	NTRK3_uc002bmh.2_Silent_p.I411I|NTRK3_uc002bmf.1_Silent_p.I419I|NTRK3_uc010upl.1_Silent_p.I321I|NTRK3_uc010bnh.1_Silent_p.I411I|NTRK3_uc002bmg.2_Silent_p.I419I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	419	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCACAGTGATAGGAGGTG	0.498		NaN	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			0	0	0	0.001168	0	4	28				
TMEM8A	58986	broad.mit.edu	37	16	427570	427570	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:427570G>A	uc002cgu.3	-	3	444	c.315C>T	c.(313-315)GGC>GGT	p.G105G	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	105	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CCGGAGGGGCGCCGGAACGGA	0.711		NaN											0	0	0	0.009096	0	4	5				
MMP2	4313	broad.mit.edu	37	16	55539318	55539318	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:55539318G>T	uc002ehz.3	+	13	2258	c.1947G>T	c.(1945-1947)AAG>AAT	p.K649N	MMP2_uc010vhd.1_Missense_Mutation_p.K573N|MMP2_uc010ccc.2_Missense_Mutation_p.K599N|MMP2_uc002eia.3_Missense_Mutation_p.K146N	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	649	Required for inhibitor TIMP2 binding.|Hemopexin-like 4.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGAGCGTGAAGTTTGGAAGCA	0.552		NaN											1	0	3.5997e-14	0.002299	4.02753e-14	21	165				
ADAMTS18	170692	broad.mit.edu	37	16	77465452	77465452	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:77465452C>G	uc002ffc.3	-	3	654	c.235G>C	c.(235-237)GAC>CAC	p.D79H	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	79					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGCAAAATGTCGTGTGAAATA	0.488		NaN											0	0	0	0.00361	0	125	303				
ATMIN	23300	broad.mit.edu	37	16	81077964	81077964	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:81077964G>C	uc002ffz.1	+	4	1879	c.1861G>C	c.(1861-1863)GAC>CAC	p.D621H	ATMIN_uc002fga.2_Missense_Mutation_p.D463H|ATMIN_uc010vnn.1_Missense_Mutation_p.D392H|ATMIN_uc002fgb.1_Missense_Mutation_p.D463H	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	621					response to DNA damage stimulus	nucleus	zinc ion binding				0						TCCTGGACCTGACACCCAGCT	0.443		NaN											0	0	0	0.001168	0	4	59				
TRPV3	162514	broad.mit.edu	37	17	3438937	3438937	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:3438937G>A	uc002fvt.1	-	7	1036	c.714C>T	c.(712-714)GGC>GGT	p.G238G	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.G222G|TRPV3_uc010vri.1_Silent_p.G193G|TRPV3_uc010vrj.1_Silent_p.G222G|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.G222G|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.G238G|TRPV3_uc002fvu.2_Silent_p.G238G	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	238	Cytoplasmic (Potential).|ANK 1.					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGACGTCGGCGCCGGCGGCGA	0.721		NaN											0	0	0	0.001168	0	5	21				
KIAA0100	9703	broad.mit.edu	37	17	26962026	26962026	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:26962026G>A	uc002hbu.2	-	16	2678	c.2579C>T	c.(2578-2580)TCT>TTT	p.S860F		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	860						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGGGCTTGGAGAGGCCCAAGC	0.468		NaN											0	0	0	0.00361	0	127	289				
NF1	4763	broad.mit.edu	37	17	29554622	29554622	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29554622C>G	uc002hgg.2	+	20	2740	c.2407C>G	c.(2407-2409)CAG>GAG	p.Q803E	NF1_uc002hgh.2_Missense_Mutation_p.Q803E|NF1_uc010csn.1_Missense_Mutation_p.Q663E|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	803					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAAGATGGCCAGGTAAGTCT	0.353		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.001168	0	6	107		Valid		
NF1	4763	broad.mit.edu	37	17	29664524	29664524	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:29664524C>G	uc002hgg.2	+	43	6899	c.6566C>G	c.(6565-6567)CCT>CGT	p.P2189R	NF1_uc002hgh.2_Missense_Mutation_p.P2168R|NF1_uc010cso.2_Missense_Mutation_p.P377R|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2189					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTCTCTCCTGGCTCCTAT	0.433		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0	0	0	0.00499	0	17	197		Valid		
TAF15	8148	broad.mit.edu	37	17	34149829	34149829	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34149829A>G	uc002hkd.2	+	6	562	c.476A>G	c.(475-477)CAC>CGC	p.H159R	TAF15_uc010ctw.1_RNA|TAF15_uc002hkc.2_Missense_Mutation_p.H156R	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	159	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGCCACCACACACAAGGT	0.378		NaN	T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								0	0	0	0.00245	0	12	160				
ACACA	31	broad.mit.edu	37	17	35486362	35486362	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:35486362C>G	uc002hnm.2	-	47	5953	c.5762G>C	c.(5761-5763)AGA>ACA	p.R1921T	ACACA_uc002hnk.2_Missense_Mutation_p.R1843T|ACACA_uc002hnl.2_Missense_Mutation_p.R1863T|ACACA_uc002hnn.2_Missense_Mutation_p.R1921T|ACACA_uc002hno.2_Missense_Mutation_p.R1958T|ACACA_uc010cuy.2_Missense_Mutation_p.R566T|ACACA_uc010wdc.1_Missense_Mutation_p.R47T	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1921	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCGATGATTCTGTCTATAGG	0.478		NaN											0	0	0	0.001984	0	7	67				
MLLT6	4302	broad.mit.edu	37	17	36876912	36876912	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:36876912C>G	uc002hqi.3	+	16	2367	c.2354C>G	c.(2353-2355)GCC>GGC	p.A785G	MLLT6_uc002hqj.2_Missense_Mutation_p.A220G|MLLT6_uc002hqk.3_Missense_Mutation_p.A116G	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	785					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCTCCCACAGCCGGCAGCAGC	0.667		NaN	T	MLL	AL								0	0	0	0.00308	0	7	111				
CCR7	1236	broad.mit.edu	37	17	38711197	38711197	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38711197A>G	uc002huw.2	-	3	997	c.934T>C	c.(934-936)TAC>CAC	p.Y312H		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	312	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				GCCAGGCTGTAGGTGACGTCG	0.567		NaN											0	0	0	0.00245	0	13	122				
SMARCE1	6605	broad.mit.edu	37	17	38788611	38788611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38788611C>T	uc002hux.2	-	8	674	c.550G>A	c.(550-552)GAT>AAT	p.D184N	SMARCE1_uc010wff.1_Missense_Mutation_p.D149N|SMARCE1_uc010wfg.1_Missense_Mutation_p.D114N|SMARCE1_uc002huy.2_Missense_Mutation_p.D149N|SMARCE1_uc010wfh.1_Missense_Mutation_p.D114N|SMARCE1_uc010wfi.1_Missense_Mutation_p.D166N	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	184					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				GAAAAGCCATCATCATAATCT	0.433		NaN											0	0	0	0.004878	0	35	67				
TMEM99	147184	broad.mit.edu	37	17	38991162	38991162	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:38991162C>G	uc002hvj.1	+	3	701	c.394C>G	c.(394-396)CAC>GAC	p.H132D		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	132						integral to membrane				skin(1)	1		Breast(137;0.000301)				TCAAGGGTCTCACGTTGCAGC	0.512		NaN											0	0	0	0.003163	0	16	269				
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:39274518C>T	uc002hvz.2	-	1	89	c.50G>A	c.(49-51)CGA>CAA	p.R17Q		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563).		keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592		NaN											0	0	0	0.001168	0	5	69				
CDC27	996	broad.mit.edu	37	17	45214642	45214642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45214642C>G	uc002ild.3	-	14	1916	c.1789G>C	c.(1789-1791)GAT>CAT	p.D597H	CDC27_uc002ile.3_Missense_Mutation_p.D603H|CDC27_uc002ilf.3_Missense_Mutation_p.D596H|CDC27_uc010wkp.1_Missense_Mutation_p.D536H|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	597	TPR 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TAATTTGGATCAACTTGGATA	0.393		NaN											0	0	0	0.00308	0	7	64				
USP32	84669	broad.mit.edu	37	17	58372085	58372085	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:58372085C>T	uc002iyo.1	-	4	656	c.370G>A	c.(370-372)GAT>AAT	p.D124N	USP32_uc010wov.1_Missense_Mutation_p.D124N	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	124	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTTTACCATCCACCACGTGG	0.338		NaN											0	0	0	0.001368	0	12	100				
EFCAB3	146779	broad.mit.edu	37	17	60493466	60493466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:60493466G>C	uc002izu.1	+	10	1171	c.1093G>C	c.(1093-1095)GAC>CAC	p.D365H	EFCAB3_uc010wpc.1_Missense_Mutation_p.D417H	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	365							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GATTGGGATGGACTCTAGAAA	0.398		NaN											0	0	0	0.006122	0	17	120				
RECQL5	9400	broad.mit.edu	37	17	73625043	73625043	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:73625043C>A	uc010dgl.2	-	16	2616	c.2460G>T	c.(2458-2460)CAG>CAT	p.Q820H	RECQL5_uc010dgk.2_Missense_Mutation_p.Q793H|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	820					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACTCCTCAGTCTGGGGAGGGG	0.617		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					1	0	2.17888e-05	0.006214	2.27906e-05	8	89				
PGS1	9489	broad.mit.edu	37	17	76411074	76411074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:76411074C>G	uc002jvm.2	+	8	1529	c.1517C>G	c.(1516-1518)ACG>AGG	p.T506R	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.T219R|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.T219R	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	506					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCGATCGTGACGGAGAACCAG	0.632		NaN											0	0	0	0.006214	0	9	70				
ASXL3	80816	broad.mit.edu	37	18	31326430	31326430	+	Silent	SNP	A	A	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:31326430A>T	uc010dmg.1	+	12	6673	c.6618A>T	c.(6616-6618)GCA>GCT	p.A2206A	ASXL3_uc002kxq.2_Silent_p.A1913A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GCAGCAATGCAGATGAATTGG	0.517		NaN											0	0	0	0.001168	0	5	77				
SYT4	6860	broad.mit.edu	37	18	40851688	40851688	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr18:40851688G>C	uc002law.2	-	3	1328	c.959C>G	c.(958-960)TCC>TGC	p.S320C	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.S302C|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TGAAAGTCCGGACACATCAGA	0.423		NaN											0	0	0	0.003163	0	13	99				
HMHA1	23526	broad.mit.edu	37	19	1080305	1080305	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1080305G>A	uc002lqz.1	+	14	1986	c.1755G>A	c.(1753-1755)GCG>GCA	p.A585A	HMHA1_uc010xgd.1_Silent_p.A601A|HMHA1_uc010xge.1_Silent_p.A425A|HMHA1_uc002lra.1_Silent_p.A425A|HMHA1_uc002lrb.1_Silent_p.A468A|HMHA1_uc002lrc.1_Silent_p.A220A|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGTGGCGCGGCCGGAGG	0.677		NaN											0	0	0	0.007291	0	29	111				
REXO1	57455	broad.mit.edu	37	19	1817224	1817224	+	Silent	SNP	G	G	A	rs141798167		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:1817224G>A	uc002lua.3	-	12	3290	c.3195C>T	c.(3193-3195)TGC>TGT	p.C1065C	REXO1_uc010dsq.2_Silent_p.C374C|REXO1_uc010xgs.1_Silent_p.C51C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1065	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCATCTCGCAGTCCAGGG	0.647		NaN											0	0	0	0.005443	0	21	35				
SLC39A3	29985	broad.mit.edu	37	19	2733469	2733469	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:2733469C>G	uc002lwg.2	-	3	479	c.225G>C	c.(223-225)CTG>CTC	p.L75L	SLC39A3_uc010xgy.1_Silent_p.L75L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	75	Extracellular (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGGCTCAGGACCTTCT	0.632		NaN											0	0	0	0.00308	0	7	84				
DOCK6	57572	broad.mit.edu	37	19	11313296	11313296	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11313296C>T	uc002mqs.3	-	42	5366	c.5325G>A	c.(5323-5325)TCG>TCA	p.S1775S	DOCK6_uc002mqr.3_Silent_p.S175S|DOCK6_uc010xlq.1_Silent_p.S1114S	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1775	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCTTCGTGATCGATGGCTCCT	0.632		NaN											0	0	0	0.00278	0	19	251				
RGL3	57139	broad.mit.edu	37	19	11527337	11527337	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:11527337C>G	uc002mrp.2	-	4	440	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_Splice_Site|RGL3_uc002mro.2_Missense_Mutation_p.E126Q|RGL3_uc002mrq.2_3'UTR	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	126	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						TTCTTGATCTCTACCCTGGGA	0.572		NaN											0	0	0	0.001984	0	6	115				
ANKLE1	126549	broad.mit.edu	37	19	17394183	17394183	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394183G>T	uc002nga.2	+	5	886	c.610G>T	c.(610-612)GGG>TGG	p.G204W	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.G226W|ANKLE1_uc010xpn.1_Missense_Mutation_p.G258W|ANKLE1_uc002nfy.2_Missense_Mutation_p.G193W|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	204						nuclear envelope					0						GGACAAACATGGGAGCTCGGC	0.607		NaN											1	0	2.4624e-09	0.008871	2.6676e-09	20	130				
ANKLE1	126549	broad.mit.edu	37	19	17394264	17394264	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:17394264G>C	uc002nga.2	+	5	967	c.691G>C	c.(691-693)GAG>CAG	p.E231Q	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.E253Q|ANKLE1_uc010xpn.1_Missense_Mutation_p.E285Q|ANKLE1_uc002nfy.2_Missense_Mutation_p.E220Q|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	231						nuclear envelope					0						CTCTGGAGCTGAGGACCCAGC	0.607		NaN											0	0	0	0.003163	0	14	98				
ZNF43	7594	broad.mit.edu	37	19	21991453	21991453	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:21991453G>C	uc002nqj.2	-	4	1516	c.1386C>G	c.(1384-1386)GCC>GCG	p.A462A	ZNF43_uc010ecv.2_Silent_p.A456A|ZNF43_uc002nql.2_Silent_p.A456A|ZNF43_uc002nqm.2_Silent_p.A456A|ZNF43_uc002nqk.2_Silent_p.A392A	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	462	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACTGGTTAAAGGCTTTGCCAC	0.398		NaN											0	0	0	0.004482	0	9	81				
FBXO27	126433	broad.mit.edu	37	19	39516075	39516075	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:39516075C>T	uc002okh.2	-	6	910	c.828G>A	c.(826-828)GTG>GTA	p.V276V		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	276	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCGCACGATCACACTGGAGT	0.587		NaN											0	0	0	0.006214	0	8	143				
ITPKC	80271	broad.mit.edu	37	19	41239168	41239168	+	Missense_Mutation	SNP	G	G	A	rs144541337		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:41239168G>A	uc002oot.2	+	4	1606	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	525						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCTACCCCTGAGGAGCATGC	0.612		NaN											0	0	0	0.00308	0	8	71				
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:44740795C>A	uc002oyu.2	+	6	2417	c.2212C>A	c.(2212-2214)CAC>AAC	p.H738N	ZNF227_uc010xwu.1_Missense_Mutation_p.H687N|ZNF227_uc002oyv.2_Missense_Mutation_p.H738N|ZNF227_uc010xwv.1_Missense_Mutation_p.H687N|ZNF227_uc010xww.1_Missense_Mutation_p.H659N|ZNF227_uc002oyw.2_Missense_Mutation_p.H710N|ZNF227_uc010ejh.2_Missense_Mutation_p.H731N|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498		NaN											1	0	1.15088e-07	0.004007	1.23697e-07	15	146				
DMPK	1760	broad.mit.edu	37	19	46278206	46278206	+	Splice_Site	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46278206C>G	uc002pdd.1	-	8	1806	c.1262_splice	c.e8+1	p.R421_splice	DMPK_uc010xxs.1_Splice_Site_p.R322_splice|DMPK_uc002pde.1_Splice_Site_p.R416_splice|DMPK_uc002pdf.1_Splice_Site_p.R411_splice|DMPK_uc002pdg.1_Splice_Site_p.R406_splice|DMPK_uc002pdh.1_Splice_Site_p.R406_splice|DMPK_uc002pdi.1_Splice_Site_p.R437_splice|DMPK_uc010xxt.1_Splice_Site_p.R406_splice	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1						regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAGTGCTTACCTGAGGGCCA	0.612		NaN											0	0	0	0.009096	0	4	56				
FOXA3	3171	broad.mit.edu	37	19	46375619	46375619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:46375619C>T	uc002pdr.2	+	2	553	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	119	Fork-head.				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCAAGCCACCGTATTCCTAT	0.627		NaN											0	0	0	0.003163	0	15	127				
C19orf48	84798	broad.mit.edu	37	19	51301447	51301447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:51301447C>T	uc002ptf.2	-	5	1181	c.259G>A	c.(259-261)GAG>AAG	p.E87K	C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.E87K	NM_199249	NP_954857	Q6RUI8	CS048_HUMAN	multidrug resistance-related protein	87										ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCAGGTCTCACGGTGGCGT	0.642		NaN											0	0	0	0.003163	0	16	115				
ZNF841	284371	broad.mit.edu	37	19	52570184	52570184	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:52570184G>C	uc002pyl.1	-	5	1155	c.603C>G	c.(601-603)TAC>TAG	p.Y201*	ZNF841_uc010ydh.1_Nonsense_Mutation_p.Y317*|ZNF841_uc010epk.1_Nonsense_Mutation_p.Y201*	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	201	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATCACATTGGTATGGTTTCC	0.418		NaN											0	0	0	0.001168	0	6	44				
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:53854397G>C	uc010ydv.1	+	4	586	c.469G>C	c.(469-471)GAA>CAA	p.E157Q	ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCAGACCGAAGGGAAAAT	0.408		NaN											0	0	0	0.006214	0	9	211				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56171880A>C	uc002qlu.2	+	4	1286	c.231_splice	c.e4-2	p.I77_splice	U2AF2_uc002qlt.2_Splice_Site_p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637		NaN											0	0	0	0.001168	0	4	22				
NLRP5	126206	broad.mit.edu	37	19	56539147	56539147	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:56539147C>T	uc002qmj.2	+	7	1548	c.1548C>T	c.(1546-1548)GTC>GTT	p.V516V	NLRP5_uc002qmi.2_Silent_p.V497V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	516	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGGCGTGGTCCGGCGCTGTC	0.592		NaN											0	0	0	0.00308	0	8	29				
ZNF132	7691	broad.mit.edu	37	19	58946488	58946488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:58946488G>A	uc002qst.3	-	3	724	c.323C>T	c.(322-324)CCT>CTT	p.P108L		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	108	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTTGGTGGAAGGATCTGCATT	0.498		NaN											0	0	0	0.008361	0	27	210				
ASAP2	8853	broad.mit.edu	37	2	9498900	9498900	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:9498900C>A	uc002qzh.2	+	15	1683	c.1343C>A	c.(1342-1344)TCC>TAC	p.S448Y	ASAP2_uc002qzi.2_Missense_Mutation_p.S448Y	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	448	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						ACATGGCTTTCCACCAACCTG	0.498		NaN											1	0	4.75955e-12	0.00361	5.23934e-12	48	321				
ROCK2	9475	broad.mit.edu	37	2	11355053	11355053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:11355053C>G	uc002rbd.1	-	16	2298	c.1849G>C	c.(1849-1851)GAA>CAA	p.E617Q		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	617	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATTCCTTTTCAAGTTTTAAC	0.383		NaN											0	0	0	0.001168	0	6	94				
NT5C1B	93034	broad.mit.edu	37	2	18757543	18757543	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:18757543G>A	uc002rcz.2	-	9	1520	c.1416C>T	c.(1414-1416)CTC>CTT	p.L472L	NT5C1B_uc002rcy.2_Silent_p.L472L|NT5C1B_uc010exr.2_Silent_p.L414L|NT5C1B_uc010yju.1_Silent_p.L412L|NT5C1B_uc002rda.2_Silent_p.L412L|NT5C1B_uc010yjv.1_Silent_p.L489L|NT5C1B_uc010yjw.1_Silent_p.L455L|NT5C1B_uc010exs.2_Silent_p.L474L	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	472					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CATCAGAGAAGAGGACAGCAT	0.453		NaN											0	0	0	0.001168	0	5	83				
SIX2	10736	broad.mit.edu	37	2	45233476	45233476	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:45233476G>A	uc002ruo.2	-	2	1002	c.709C>T	c.(709-711)CCC>TCC	p.P237S	SIX2_uc002rup.2_Missense_Mutation_p.P239S	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	237						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCCAGGGGGCGGCGGGCTG	0.701		NaN											0	0	0	0.00499	0	16	140				
TSPYL6	388951	broad.mit.edu	37	2	54482756	54482756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:54482756C>G	uc002rxr.2	-	1	654	c.533G>C	c.(532-534)AGA>ACA	p.R178T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	178					nucleosome assembly	nucleus					0						ATCTATTGCTCTGTTTTCTTC	0.617		NaN											0	0	0	0.004007	0	15	166				
MCEE	84693	broad.mit.edu	37	2	71337220	71337220	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:71337220C>G	uc002shs.2	-	3	456	c.411G>C	c.(409-411)TTG>TTC	p.L137F		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	137					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TCTTTTTTTTCAAATCCATCA	0.333		NaN											0	0	0	0.006214	0	8	42				
FBXO41	150726	broad.mit.edu	37	2	73493771	73493771	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:73493771C>T	uc002sjb.1	-	3	1128	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	315	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCTCCCGCGCCGCCGTCTCCT	0.667		NaN											0	0	0	0.00308	0	7	77				
C2orf3	6936	broad.mit.edu	37	2	75917840	75917840	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:75917840C>T	uc002sno.2	-	8	1280	c.1150G>A	c.(1150-1152)GAT>AAT	p.D384N	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.D215N|C2orf3_uc010fft.2_Missense_Mutation_p.D59N	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	384					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GATGTCTCATCTTTGCCTGTT	0.289		NaN											0	0	0	0.007413	0	19	163				
LRP2	4036	broad.mit.edu	37	2	170063207	170063207	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:170063207G>C	uc002ues.2	-	39	7236	c.7023C>G	c.(7021-7023)GTC>GTG	p.V2341V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2341	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTTGTTGTTGACCTCTGCTG	0.507		NaN											0	0	0	0.006214	0	9	59				
AGPS	8540	broad.mit.edu	37	2	178346824	178346824	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:178346824C>G	uc002ull.2	+	11	1190	c.1143C>G	c.(1141-1143)ATC>ATG	p.I381M	AGPS_uc010zfb.1_Missense_Mutation_p.I291M	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	381	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CAATAAAAATCAGACCAGTCC	0.338		NaN											0	0	0	0.008291	0	10	47				
TTN	7273	broad.mit.edu	37	2	179474920	179474920	+	Silent	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179474920G>T	uc010zfg.1	-	220	43853	c.43629C>A	c.(43627-43629)CTC>CTA	p.L14543L	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8238L|TTN_uc010zfi.1_Silent_p.L8171L|TTN_uc010zfj.1_Silent_p.L8046L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15470							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTGGTATGAGATCCTTCA	0.418		NaN											1	0	5.61819e-17	0.005443	6.33787e-17	27	220				
TTN	7273	broad.mit.edu	37	2	179640747	179640747	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:179640747C>G	uc010zfg.1	-	28	6068	c.5844G>C	c.(5842-5844)GAG>GAC	p.E1948D	TTN_uc010zfh.1_Missense_Mutation_p.E1902D|TTN_uc010zfi.1_Missense_Mutation_p.E1902D|TTN_uc010zfj.1_Missense_Mutation_p.E1902D|TTN_uc002unb.2_Missense_Mutation_p.E1948D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1948							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGTGAAACTCAGGCCTTG	0.423		NaN											0	0	0	0.008871	0	18	261				
NCKAP1	10787	broad.mit.edu	37	2	183817542	183817542	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:183817542C>T	uc002upc.2	-	22	2884	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K	NCKAP1_uc002upb.2_Missense_Mutation_p.E834K	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	828					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATATTCCTCTGCATTGAAT	0.338		NaN											0	0	0	0.008291	0	9	44				
PMS1	5378	broad.mit.edu	37	2	190728630	190728630	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:190728630C>G	uc002urh.3	+	10	2547	c.2018C>G	c.(2017-2019)TCT>TGT	p.S673C	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.S612C|PMS1_uc002urk.3_Missense_Mutation_p.S634C|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.S497C|PMS1_uc010zgd.1_Missense_Mutation_p.S497C|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.S634C|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.S341C	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	673					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACCTCATTATCTAATCAACCA	0.358		NaN	Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					0	0	0	0.001855	0	13	117				
CCDC150	284992	broad.mit.edu	37	2	197521488	197521488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:197521488G>A	uc002utp.1	+	3	443	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	CCDC150_uc002uto.1_Missense_Mutation_p.R103Q|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103											0						CTGGTAAATCGAATGTGCCGT	0.398		NaN											0	0	0	0.008361	0	29	65				
BOLL	66037	broad.mit.edu	37	2	198607796	198607796	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:198607796C>G	uc002uus.2	-	10	1127	c.817G>C	c.(817-819)GAG>CAG	p.E273Q	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.E279Q|BOLL_uc002uut.2_Missense_Mutation_p.E285Q|BOLL_uc010zha.1_Missense_Mutation_p.E164Q|BOLL_uc002uuu.1_Missense_Mutation_p.E301Q	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	273					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						TTAATTGGCTCAGGCTGCATC	0.358		NaN											0	0	0	0.012319	0	21	36				
PARD3B	117583	broad.mit.edu	37	2	205969201	205969201	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:205969201G>C	uc002var.1	+	5	763	c.556G>C	c.(556-558)GAA>CAA	p.E186Q	PARD3B_uc010fub.1_Missense_Mutation_p.E186Q|PARD3B_uc002vao.1_Missense_Mutation_p.E186Q|PARD3B_uc002vap.1_Missense_Mutation_p.E186Q|PARD3B_uc002vaq.1_Missense_Mutation_p.E186Q	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	186					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGTACAGACAGAACTACTAAC	0.338		NaN											0	0	0	0.010818	0	29	128				
PROCR	10544	broad.mit.edu	37	20	33762599	33762599	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:33762599G>A	uc002xbt.2	+	2	349	c.165G>A	c.(163-165)ACG>ACA	p.T55T	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.T92T	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	55	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GACACCTAACGCACGTGCTGG	0.627		NaN											0	0	0	0.001984	0	7	110				
RALGAPB	57148	broad.mit.edu	37	20	37153561	37153561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:37153561C>A	uc002xiw.2	+	11	2017	c.1760C>A	c.(1759-1761)TCA>TAA	p.S587*	RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.2_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiy.1_Nonsense_Mutation_p.S587*|RALGAPB_uc002xiz.2_Nonsense_Mutation_p.S365*|RALGAPB_uc002xja.1_Nonsense_Mutation_p.S314*	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	587					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TACTTTATTTCAGCTCTTGAA	0.433		NaN											1	0	3.8128e-34	0.00361	4.35521e-34	55	275				
SLC37A1	54020	broad.mit.edu	37	21	43938572	43938572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:43938572G>A	uc002zbi.2	+	3	420	c.8G>A	c.(7-9)CGA>CAA	p.R3Q	SLC37A1_uc002zbh.1_RNA|SLC37A1_uc002zbj.2_Missense_Mutation_p.R3Q	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	3					carbohydrate transport|transmembrane transport	integral to membrane					0						TAAATGGCTCGACTCCCCGCT	0.547		NaN											0	0	0	0.002836	0	30	80				
PDE9A	5152	broad.mit.edu	37	21	44174150	44174150	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr21:44174150C>T	uc002zbm.2	+	10	849	c.786C>T	c.(784-786)GAC>GAT	p.D262D	PDE9A_uc002zbn.2_Silent_p.D135D|PDE9A_uc002zbo.2_Silent_p.D209D|PDE9A_uc002zbp.2_Silent_p.D55D|PDE9A_uc002zbq.2_Silent_p.D160D|PDE9A_uc002zbs.2_Silent_p.D55D|PDE9A_uc002zbr.2_Silent_p.D55D|PDE9A_uc002zbt.2_Silent_p.D134D|PDE9A_uc002zbu.2_Silent_p.D128D|PDE9A_uc002zbv.2_Silent_p.D102D|PDE9A_uc002zbw.2_Silent_p.D45D|PDE9A_uc002zbx.2_Silent_p.D202D|PDE9A_uc002zby.2_Silent_p.D45D|PDE9A_uc002zbz.2_Silent_p.D154D|PDE9A_uc002zca.2_Silent_p.D221D|PDE9A_uc002zcb.2_Silent_p.D236D|PDE9A_uc002zcc.2_Silent_p.D161D|PDE9A_uc002zcd.2_Silent_p.D176D|PDE9A_uc002zce.2_Silent_p.D195D|PDE9A_uc002zcf.2_Silent_p.D55D|PDE9A_uc002zcg.2_Silent_p.D55D|PDE9A_uc002zch.2_Silent_p.D45D|PDE9A_uc010gpf.1_Silent_p.D55D	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	262					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CGACCTTTGACGTCTGGCTTT	0.627		NaN											0	0	0	0.004482	0	7	56				
CLTCL1	8218	broad.mit.edu	37	22	19175135	19175135	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:19175135G>T	uc002zpb.2	-	30	4615	c.4540C>A	c.(4540-4542)CTG>ATG	p.L1514M	CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.L1493M|CLTCL1_uc011agt.1_Missense_Mutation_p.L305M|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1514	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCCTTGTACAGATAGGCCGCA	0.542		NaN	T	NaN	ALCL								1	0	4.14922e-12	0.004007	4.58598e-12	15	115				
MCM5	4174	broad.mit.edu	37	22	35808507	35808507	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:35808507C>T	uc003anu.3	+	8	1018	c.924C>T	c.(922-924)CGC>CGT	p.R308R	MCM5_uc010gwr.2_Silent_p.R117R|MCM5_uc003anv.3_Silent_p.R265R|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Silent_p.R92R	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						ACCAAGGCCGCAGCTTTGCTG	0.627		NaN											0	0	0	0.007413	0	15	186				
SYNGR1	9145	broad.mit.edu	37	22	39770522	39770522	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:39770522C>G	uc003axq.3	+	2	363	c.301C>G	c.(301-303)CGC>GGC	p.R101G	SYNGR1_uc003axo.3_Missense_Mutation_p.R101G|SYNGR1_uc003axp.3_Silent_p.T31T|TAB1_uc003axr.2_5'UTR|SYNGR1_uc003axs.3_Missense_Mutation_p.R102G	NM_004711	NP_004702	O43759	SNG1_HUMAN	synaptogyrin 1 isoform 1a	101	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome					0	Melanoma(58;0.04)					CGTCAAGGACCGCAAGAAAGC	0.622		NaN											0	0	0	0.00245	0	13	174				
MKL1	57591	broad.mit.edu	37	22	40814492	40814492	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr22:40814492G>A	uc003ayv.1	-	9	2157	c.1950C>T	c.(1948-1950)ATC>ATT	p.I650I	MKL1_uc003ayw.1_Silent_p.I650I|MKL1_uc010gye.1_Silent_p.I650I|MKL1_uc010gyf.1_Silent_p.I600I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	650	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAACCCCCTTGATGAGGCTGG	0.662		NaN	T	RBM15	acute megakaryocytic leukemia								0	0	0	0.006214	0	9	142				
SCN10A	6336	broad.mit.edu	37	3	38783971	38783971	+	Silent	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:38783971A>C	uc003ciq.2	-	13	1917	c.1917T>G	c.(1915-1917)TCT>TCG	p.S639S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	639					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATACTTCTGAGACAAGCTGG	0.488		NaN											0	0	0	0.004656	0	23	178				
IMPDH2	3615	broad.mit.edu	37	3	49063798	49063798	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:49063798C>T	uc003cvt.2	-	9	1057	c.965G>A	c.(964-966)CGG>CAG	p.R322Q		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	322		IMP.			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CATGCCCACCCGCAGGGCATC	0.527		NaN											0	0	0	0.001168	0	5	47				
TLR9	54106	broad.mit.edu	37	3	52256140	52256140	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52256140T>G	uc003dda.1	-	2	2826	c.2192A>C	c.(2191-2193)AAC>ACC	p.N731T	TLR9_uc003ddb.2_Missense_Mutation_p.N828T	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	731	LRR 25.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCGCTAAGGTTGAGCTCTCG	0.617		NaN											0	0	0	0.00245	0	14	139				
SFMBT1	51460	broad.mit.edu	37	3	52962228	52962228	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:52962228G>A	uc003dgf.2	-	10	1596	c.1027C>T	c.(1027-1029)CTA>TTA	p.L343L	SFMBT1_uc010hmr.2_Silent_p.L290L|SFMBT1_uc003dgg.2_Silent_p.L343L|SFMBT1_uc003dgh.2_Silent_p.L343L	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	343	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGTGTAGGCCATTCTTC	0.522		NaN											0	0	0	0.010504	0	18	179				
C3orf26	84319	broad.mit.edu	37	3	99881159	99881159	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:99881159G>A	uc003dtl.2	+	4	381	c.238G>A	c.(238-240)GAT>AAT	p.D80N		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	80							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						GAAAATTACTGATGTTCTTGC	0.373		NaN											0	0	0	0.010771	0	42	53				
RAB6B	51560	broad.mit.edu	37	3	133614283	133614283	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:133614283G>A	uc003epy.2	-	1	409	c.28C>T	c.(28-30)CCA>TCA	p.P10S	RAB6B_uc011blu.1_5'UTR	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	10					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						TTTCTCAGTGGATTCCCAAAA	0.408		NaN											0	0	0	0.004482	0	7	85				
LRRC33	375387	broad.mit.edu	37	3	196387064	196387064	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr3:196387064C>T	uc003fwv.2	+	3	654	c.550C>T	c.(550-552)CGG>TGG	p.R184W		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	184	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGAGCGTCTCCGGGAGCTGGA	0.632		NaN											0	0	0	0.001984	0	6	53				
TMEM33	55161	broad.mit.edu	37	4	41941219	41941219	+	Silent	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:41941219T>C	uc003gwi.2	+	3	512	c.147T>C	c.(145-147)CAT>CAC	p.H49H	TMEM33_uc010ifw.2_Intron	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	49	Helical; (Potential).					integral to membrane|melanosome	protein binding			ovary(1)	1						GCAGGTTGCATGAAGCAGCAA	0.438		NaN											0	0	0	0.008291	0	10	101				
CEP135	9662	broad.mit.edu	37	4	56818365	56818365	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:56818365G>C	uc003hbi.2	+	2	303	c.69G>C	c.(67-69)CAG>CAC	p.Q23H	CEP135_uc003hbh.1_Missense_Mutation_p.Q23H|CEP135_uc010igz.1_5'Flank	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	23					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					GATACCGCCAGACTCTGACAG	0.373		NaN											0	0	0	0.010729	0	10	107				
CSN3	1448	broad.mit.edu	37	4	71114859	71114859	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:71114859C>T	uc003hfe.3	+	4	290	c.232C>T	c.(232-234)CGC>TGC	p.R78C		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	78						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ATATGTGCCTCGCACATATTA	0.448		NaN											0	0	0	0.004482	0	9	91				
SPATA5	166378	broad.mit.edu	37	4	123900543	123900543	+	Splice_Site	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:123900543T>G	uc003iez.3	+	10	1942	c.1869_splice	c.e10+2	p.N623_splice	SPATA5_uc003iey.2_Splice_Site_p.N622_splice	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GTCCCAAATGTAAGTCATTTA	0.388		NaN											0	0	0	0.001368	0	13	172				
PCDH10	57575	broad.mit.edu	37	4	134072052	134072052	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:134072052C>T	uc003iha.2	+	1	1583	c.757C>T	c.(757-759)CCC>TCC	p.P253S	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P253S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	253	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCGACCAACCCGTCTACAC	0.602		NaN											0	0	0	0.001984	0	7	97				
DCHS2	54798	broad.mit.edu	37	4	155254442	155254442	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:155254442T>G	uc003inw.2	-	9	1421	c.1421A>C	c.(1420-1422)AAT>ACT	p.N474T	DCHS2_uc003inx.2_Missense_Mutation_p.N973T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	474	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTTGTCATTGACATCCAT	0.607		NaN											0	0	0	0.007413	0	19	105				
SH3RF1	57630	broad.mit.edu	37	4	170017810	170017810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:170017810G>A	uc003isa.1	-	12	2862	c.2527C>T	c.(2527-2529)CAG>TAG	p.Q843*		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	843	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCCTCACTCTGAGGAGGATAG	0.398		NaN											0	0	0	0.001855	0	14	86				
MLF1IP	79682	broad.mit.edu	37	4	185622015	185622015	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:185622015C>G	uc003iwq.2	-	11	1015	c.945G>C	c.(943-945)AAG>AAC	p.K315N	MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	315	Nuclear localization signal (Potential).|Potential.				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGCCTTTTCTTTTCGATAT	0.333		NaN											0	0	0	0.00308	0	8	87				
F11	2160	broad.mit.edu	37	4	187201424	187201424	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr4:187201424G>A	uc003iza.1	+	9	1246	c.913G>A	c.(913-915)GAA>AAA	p.E305K		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	305	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTGGGAGAAGAACTGGATAT	0.493		NaN											0	0	0	0.00499	0	16	207				
KIAA0947	23379	broad.mit.edu	37	5	5457794	5457794	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:5457794G>C	uc003jdm.3	+	12	1263	c.1041G>C	c.(1039-1041)GTG>GTC	p.V347V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	347	Pro-rich.									ovary(1)|central_nervous_system(1)	2						TGTCACCAGTGCCCTCGCCCC	0.458		NaN											0	0	0	0.00361	0	62	420				
SKP2	6502	broad.mit.edu	37	5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:36163852G>A	uc003jkc.1	+	3	568	c.386G>A	c.(385-387)CGC>CAC	p.R129H	SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.R129H	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	129	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468		NaN											0	0	0	0.008291	0	10	120				
C9	735	broad.mit.edu	37	5	39308390	39308390	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:39308390G>C	uc003jlv.3	-	8	1271	c.1182C>G	c.(1180-1182)ATC>ATG	p.I394M		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	394	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCCAACAGAGATTTCAGAGA	0.368		NaN											0	0	0	0.00308	0	8	166				
GPR98	84059	broad.mit.edu	37	5	89985813	89985813	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:89985813C>A	uc003kju.2	+	30	6722	c.6626C>A	c.(6625-6627)ACA>AAA	p.T2209K	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2209	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGAATGAAACAACAGGAGGA	0.398		NaN											1	0	3.07112e-06	0.010729	3.23712e-06	11	9				
CHD1	1105	broad.mit.edu	37	5	98212205	98212205	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:98212205C>A	uc003knf.2	-	23	3443	c.3295G>T	c.(3295-3297)GAT>TAT	p.D1099Y	CHD1_uc010jbn.2_5'Flank	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1099					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAATCACTATCAGATCCAGAG	0.408		NaN											1	0	3.07112e-06	0.010729	3.23712e-06	9	185				
APC	324	broad.mit.edu	37	5	112179759	112179759	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:112179759C>G	uc010jby.2	+	16	8848	c.8468C>G	c.(8467-8469)ACA>AGA	p.T2823R	APC_uc011cvt.1_Missense_Mutation_p.T2805R|APC_uc003kpz.3_Missense_Mutation_p.T2823R|APC_uc003kpy.3_Missense_Mutation_p.T2823R|APC_uc010jbz.2_Missense_Mutation_p.T2540R|APC_uc010jca.2_Missense_Mutation_p.T2123R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2823	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGACAGCACAGAATCCAGT	0.438		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			0	0	0	0.006999	0	40	42		Valid		
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140256667C>T	uc003lic.2	+	1	1737	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A537V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687		NaN											0	0	0	0.00361	0	107	89				
PCDHB9	56127	broad.mit.edu	37	5	140568500	140568500	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140568500G>A	uc003liw.1	+	3	1609	c.1609G>A	c.(1609-1611)GGC>AGC	p.G537S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	537	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGCTCCCCGGC	0.667		NaN											0	0	0	0.00361	0	46	113				
PCDHGC5	56097	broad.mit.edu	37	5	140890659	140890659	+	Silent	SNP	C	C	T	rs143362044	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:140890659C>T	uc003lla.1	+	4	2754	c.2754C>T	c.(2752-2754)AAC>AAT	p.N918N	PCDHGA1_uc003lji.1_Silent_p.N905N|PCDHGA2_uc003ljk.1_Silent_p.N906N|PCDHGA3_uc003ljm.1_Silent_p.N906N|PCDHGA3_uc010jfx.1_Silent_p.N666N|PCDHGB1_uc003ljo.1_Silent_p.N901N|PCDHGA4_uc003ljq.1_Silent_p.N905N|PCDHGB2_uc003ljs.1_Silent_p.N905N|PCDHGA5_uc003lju.1_Silent_p.N905N|PCDHGB3_uc003ljw.1_Silent_p.N903N|PCDHGA6_uc003ljy.1_Silent_p.N906N|PCDHGA7_uc003lka.1_Silent_p.N906N|PCDHGB4_uc003lkc.1_Silent_p.N897N|PCDHGA8_uc003lkd.1_Silent_p.N906N|PCDHGB5_uc003lkf.1_Silent_p.N897N|PCDHGA9_uc003lkh.1_Silent_p.N906N|PCDHGB6_uc003lkj.1_Silent_p.N904N|PCDHGA10_uc003lkl.1_Silent_p.N910N|PCDHGB7_uc003lkn.1_Silent_p.N903N|PCDHGA11_uc003lkp.1_Silent_p.N724N|PCDHGA11_uc003lkq.1_Silent_p.N909N|PCDHGA12_uc003lkt.1_Silent_p.N906N|PCDHGC3_uc003lkv.1_Silent_p.N908N|PCDHGC3_uc003lkw.1_Silent_p.N108N|PCDHGC4_uc003lky.1_Silent_p.N912N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	918	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGACCAACGCAGCTGGCA	0.597		NaN											0	0	0	0.004482	0	8	127				
TCERG1	10915	broad.mit.edu	37	5	145890061	145890061	+	Silent	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:145890061A>G	uc003lob.2	+	22	3193	c.3153A>G	c.(3151-3153)TTA>TTG	p.L1051L	TCERG1_uc003loc.2_Silent_p.L1030L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	1051	FF 6.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAAATTTTACAGAATGACA	0.383		NaN											0	0	0	0.009535	0	31	46				
GRIA1	2890	broad.mit.edu	37	5	153144142	153144142	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr5:153144142G>C	uc003lva.3	+	12	2337	c.1972G>C	c.(1972-1974)GAA>CAA	p.E658Q	GRIA1_uc003luy.3_Missense_Mutation_p.E658Q|GRIA1_uc003luz.3_Missense_Mutation_p.E563Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E578Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E589Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E668Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E668Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	658	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGCAGACAGAAATTGCCTA	0.507		NaN											0	0	0	0.004482	0	8	52				
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:7585963C>A	uc003mxp.1	+	24	8747	c.8468C>A	c.(8467-8469)CCG>CAG	p.P2823Q	DSP_uc003mxq.1_Missense_Mutation_p.P2224Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2823	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.428		NaN											1	0	2.44723e-14	0.004656	2.74936e-14	27	137				
HIST1H1D	3007	broad.mit.edu	37	6	26234919	26234919	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:26234919G>C	uc003nhd.2	-	1	298	c.243C>G	c.(241-243)ATC>ATG	p.I81M		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	81	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCCAAGCTTGATACGGCTGT	0.542		NaN											0	0	0	0.012319	0	22	160				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			0	0	0	0.001168	0	4	22				
CFB	629	broad.mit.edu	37	6	31918657	31918657	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:31918657C>G	uc003nyj.3	+	14	2069	c.1791C>G	c.(1789-1791)CTC>CTG	p.L597L	CFB_uc011dor.1_Silent_p.L1099L	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	597	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CCATTTGTCTCCCCTGCACCG	0.532		NaN											0	0	0	0.008871	0	18	130				
PHF3	23469	broad.mit.edu	37	6	64422216	64422216	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:64422216A>G	uc003pep.1	+	15	4758	c.4732A>G	c.(4732-4734)ATT>GTT	p.I1578V	PHF3_uc003pen.2_Missense_Mutation_p.I1490V|PHF3_uc011dxs.1_Missense_Mutation_p.I847V	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1578					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAATTTATCAATTCAGTCAAA	0.378		NaN											0	0	0	0.000602	0	5	95				
IRAK1BP1	134728	broad.mit.edu	37	6	79577433	79577433	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:79577433A>C	uc003pim.2	+	1	245	c.140A>C	c.(139-141)CAA>CCA	p.Q47P	IRAK1BP1_uc010kbg.1_RNA	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	47	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACACAAGCCCAAACTGCTACC	0.652		NaN											0	0	0	0.001368	0	12	45				
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:111346773T>A	uc003pun.2	+	10	928	c.909T>A	c.(907-909)ATT>ATA	p.I303I	RPF2_uc003puo.2_Silent_p.I240I|uc003pup.1_5'Flank	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	303						nucleolus	protein binding			ovary(2)	2						CAAAAAGAATTAAAAAAAATT	0.368		NaN											0	0	0	0.001855	0	8	28				
ECHDC1	55862	broad.mit.edu	37	6	127611373	127611373	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:127611373T>C	uc003qax.2	-	6	601	c.565A>G	c.(565-567)ATA>GTA	p.I189V	ECHDC1_uc003qaz.3_Missense_Mutation_p.I183V|ECHDC1_uc010key.2_Missense_Mutation_p.I108V|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	189							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CTTGGTATTATGCCCATCTCT	0.413		NaN											0	0	0	0.006214	0	10	84				
BCLAF1	9774	broad.mit.edu	37	6	136600967	136600967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:136600967G>T	uc003qgx.1	-	3	291	c.38C>A	c.(37-39)TCA>TAA	p.S13*	BCLAF1_uc003qgw.1_Nonsense_Mutation_p.S13*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.S13*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.S13*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	13					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGACTTTGACCTTGAAGA	0.303		NaN											1	0	1.12685e-05	0.004482	1.18319e-05	9	75				
SASH1	23328	broad.mit.edu	37	6	148864865	148864865	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:148864865C>G	uc003qme.1	+	18	2734	c.2259C>G	c.(2257-2259)CCC>CCG	p.P753P	SASH1_uc011eeb.1_Silent_p.P514P|SASH1_uc003qmf.1_Silent_p.P163P	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	753							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCACCGAGCCCAGCTTGAAGT	0.463		NaN											0	0	0	0.00278	0	21	93				
C6orf72	116254	broad.mit.edu	37	6	149901812	149901812	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:149901812A>C	uc003qmq.1	+	6	697	c.670A>C	c.(670-672)AAG>CAG	p.K224Q	C6orf72_uc010kie.1_Missense_Mutation_p.K104Q	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	224	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TTTACCTGGCAAGTTACCTGA	0.398		NaN											0	0	0	0.001168	0	6	107				
AKAP12	9590	broad.mit.edu	37	6	151671634	151671634	+	Missense_Mutation	SNP	G	G	A	rs151321698	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:151671634G>A	uc011eep.1	+	4	2348	c.2108G>A	c.(2107-2109)GGA>GAA	p.G703E	AKAP12_uc003qoe.2_Missense_Mutation_p.G703E|AKAP12_uc003qof.2_Missense_Mutation_p.G605E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G598E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	703					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGGAAGGGGGACCAAAAGCA	0.502		NaN											0	0	0	0.00499	0	17	150				
SYNE1	23345	broad.mit.edu	37	6	152621819	152621819	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152621819C>G	uc010kiw.2	-	93	18241	c.17639G>C	c.(17638-17640)CGC>CCC	p.R5880P	SYNE1_uc010kiv.2_Missense_Mutation_p.R404P|SYNE1_uc003qos.3_Missense_Mutation_p.R404P|SYNE1_uc003qot.3_Missense_Mutation_p.R5809P|SYNE1_uc003qou.3_Missense_Mutation_p.R5880P|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5880	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGGGGAGCGACAGGCAGG	0.537		NaN								HNSCC(10;0.0054)			0	0	0	0.004482	0	6	74				
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:152665261C>A	uc010kiw.2	-	74	12782	c.12180G>T	c.(12178-12180)GAG>GAT	p.E4060D	SYNE1_uc003qot.3_Missense_Mutation_p.E3989D|SYNE1_uc003qou.3_Missense_Mutation_p.E4060D|SYNE1_uc010kja.1_Missense_Mutation_p.E765D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E4060D(1)		central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGACTTGGCTCTAAATCCG	0.453		NaN								HNSCC(10;0.0054)			1	0	0.00116845	0.001168	0.0011947	6	122				
CARD11	84433	broad.mit.edu	37	7	2954983	2954983	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2954983C>G	uc003smv.2	-	21	3131	c.2727G>C	c.(2725-2727)AAG>AAC	p.K909N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	909					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCGCTTATACTTGTTCTCGG	0.602		NaN	Mis		DLBCL								0	0	0	0.008291	0	9	86				
CARD11	84433	broad.mit.edu	37	7	2956960	2956960	+	Silent	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:2956960G>C	uc003smv.2	-	20	3071	c.2667C>G	c.(2665-2667)CTC>CTG	p.L889L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	889					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGCTCGCGAGAGACGGGGGC	0.557		NaN	Mis		DLBCL								0	0	0	0.009096	0	4	40				
AGR3	155465	broad.mit.edu	37	7	16913456	16913456	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:16913456C>T	uc003sts.2	-	3	194	c.121G>A	c.(121-123)GAC>AAC	p.D41N		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	41						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CAAGTGATGTCATCTCCCCAT	0.348		NaN											0	0	0	0.004482	0	9	126				
OGDH	4967	broad.mit.edu	37	7	44746824	44746824	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:44746824G>A	uc003tln.2	+	21	2742	c.2633G>A	c.(2632-2634)GGA>GAA	p.G878E	OGDH_uc011kbx.1_Missense_Mutation_p.G874E|OGDH_uc011kby.1_Missense_Mutation_p.G728E|OGDH_uc003tlp.2_Missense_Mutation_p.G889E|OGDH_uc011kbz.1_Missense_Mutation_p.G673E	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	878					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCTCTTGTAGGAACCCACTTC	0.562		NaN											0	0	0	0.001984	0	6	102				
TPST1	8460	broad.mit.edu	37	7	65817531	65817531	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:65817531G>C	uc003tuw.2	+	4	1436	c.1084G>C	c.(1084-1086)GAA>CAA	p.E362Q	TPST1_uc010kzy.2_RNA|TPST1_uc010kzz.2_Missense_Mutation_p.E362Q|TPST1_uc010laa.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	362	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0						CTTTCTTAAAGAAAAACCACA	0.383		NaN											0	0	0	0.003954	0	22	187				
PCLO	27445	broad.mit.edu	37	7	82585934	82585934	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:82585934C>T	uc003uhx.2	-	5	4624	c.4335G>A	c.(4333-4335)CAG>CAA	p.Q1445Q	PCLO_uc003uhv.2_Silent_p.Q1445Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1376					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTCTTTAGGCTGTTCAGGAG	0.373		NaN											0	0	0	0.010818	0	33	57				
FBXL13	222235	broad.mit.edu	37	7	102669092	102669092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:102669092G>A	uc003vaq.2	-	4	599	c.172C>T	c.(172-174)CAT>TAT	p.H58Y	FBXL13_uc010lir.1_Missense_Mutation_p.H58Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.H58Y|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	58											0						TGCCAGTGATGAAATACAGAT	0.318		NaN											0	0	0	0.00308	0	8	101				
TAS2R39	259285	broad.mit.edu	37	7	142881419	142881419	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:142881419A>C	uc011ksw.1	+	1	908	c.908A>C	c.(907-909)TAC>TCC	p.Y303S		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	303	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					ATGGCTGCCTACCCTGCCAGC	0.458		NaN											0	0	0	0.004656	0	11	51				
OR6B1	135946	broad.mit.edu	37	7	143701410	143701410	+	Silent	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:143701410C>G	uc003wdt.1	+	1	321	c.321C>G	c.(319-321)CTC>CTG	p.L107L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					TCATTGCTCTCATGTGCACAG	0.483		NaN											0	0	0	0.004007	0	16	262				
GBX1	2636	broad.mit.edu	37	7	150845868	150845868	+	Silent	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:150845868G>A	uc011kvg.1	-	2	1132	c.900C>T	c.(898-900)CTC>CTT	p.L300L		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	300	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCTCACTGAGCTTGAGGG	0.522		NaN											0	0	0	0.006214	0	9	160				
CDCA2	157313	broad.mit.edu	37	8	25365244	25365244	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:25365244G>C	uc003xep.1	+	15	3541	c.3062G>C	c.(3061-3063)AGA>ACA	p.R1021T	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R1006T|CDCA2_uc003xer.1_Missense_Mutation_p.R684T	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGGAGAAAGAAAGCAGTAA	0.453		NaN											0	0	0	0.001168	0	6	82				
TSPYL5	85453	broad.mit.edu	37	8	98288924	98288924	+	Silent	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:98288924C>T	uc003yhy.2	-	1	1253	c.1149G>A	c.(1147-1149)TTG>TTA	p.L383L		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	383					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CCCCTTCACTCAAAAGGTAGA	0.483		NaN											0	0	0	0.00361	0	42	321				
OXR1	55074	broad.mit.edu	37	8	107719297	107719297	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107719297G>C	uc011lht.1	+	8	1650	c.1551G>C	c.(1549-1551)CAG>CAC	p.Q517H	OXR1_uc003ymf.2_Missense_Mutation_p.Q516H|OXR1_uc011lhu.1_Missense_Mutation_p.Q509H|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q214H|OXR1_uc003ymg.1_Missense_Mutation_p.Q449H|OXR1_uc003ymi.1_Missense_Mutation_p.Q428H	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	517					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAACTAAACAGCAAAGGGAAA	0.368		NaN											0	0	0	0.010729	0	12	151				
ABRA	137735	broad.mit.edu	37	8	107773566	107773566	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:107773566C>T	uc003ymm.3	-	2	899	c.845G>A	c.(844-846)GGA>GAA	p.G282E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	282	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCCCTCATCTCCTTTGTGTAG	0.517		NaN											0	0	0	0.00361	0	75	100				
PHF20L1	51105	broad.mit.edu	37	8	133827086	133827086	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr8:133827086G>C	uc003ytt.2	+	10	1460	c.1135G>C	c.(1135-1137)GAT>CAT	p.D379H	PHF20L1_uc003yts.2_Missense_Mutation_p.D379H|PHF20L1_uc011lja.1_Missense_Mutation_p.D353H|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	379							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAAGTCGAGGATTTGACGCT	0.348		NaN											0	0	0	0.005443	0	21	167				
HAUS6	54801	broad.mit.edu	37	9	19093277	19093277	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:19093277G>C	uc003znk.2	-	4	581	c.328C>G	c.(328-330)CAA>GAA	p.Q110E	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	110					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						CCAACAACTTGAGGAAAGCTA	0.313		NaN											0	0	0	0.008291	0	11	74				
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.00245	0	11	16		Valid		
KIAA1045	23349	broad.mit.edu	37	9	34977116	34977116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:34977116G>T	uc003zvq.2	+	6	1064	c.886G>T	c.(886-888)GAG>TAG	p.E296*	KIAA1045_uc003zvr.2_Nonsense_Mutation_p.E296*	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	296							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAAGGAGCGGGAGCGAGCCCG	0.572		NaN											1	0	1.88708e-17	0.008361	2.13765e-17	27	76				
WNK2	65268	broad.mit.edu	37	9	96079823	96079823	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:96079823G>A	uc004ati.1	+	29	6649	c.6649G>A	c.(6649-6651)GTG>ATG	p.V2217M	WNK2_uc011lud.1_Missense_Mutation_p.V2180M|WNK2_uc004atj.2_Missense_Mutation_p.V2180M|WNK2_uc004atk.2_Missense_Mutation_p.V1705M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2217					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						TCGAGCAGGAGTGGGGATGCC	0.657		NaN											0	0	0	0.00623	0	33	32				
MUSK	4593	broad.mit.edu	37	9	113444998	113444998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:113444998G>C	uc004bey.2	+	2	222	c.124G>C	c.(124-126)GAA>CAA	p.E42Q	MUSK_uc004bex.2_Missense_Mutation_p.E42Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	42	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGCCTTAGTTGAAGAAGTGGC	0.393		NaN											0	0	0	0.006122	0	18	200				
LHX2	9355	broad.mit.edu	37	9	126794886	126794886	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:126794886C>T	uc004boe.1	+	5	1860	c.1121C>T	c.(1120-1122)ACC>ATC	p.T374I	LHX2_uc010mwi.1_Missense_Mutation_p.T382I	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	374						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACTAGCCCCACCCTGCCAACT	0.617		NaN											0	0	0	0.004482	0	8	68				
DNM1	1759	broad.mit.edu	37	9	131010868	131010868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:131010868G>T	uc011mau.1	+	19	1999	c.1912G>T	c.(1912-1914)GAG>TAG	p.E638*	DNM1_uc011mat.1_Nonsense_Mutation_p.E638*|DNM1_uc004bub.1_Nonsense_Mutation_p.E11*|DNM1_uc004buc.1_Nonsense_Mutation_p.E105*|DNM1_uc004bud.3_RNA	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	638					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCAGGCCAGCGAGACCGAGGA	0.597		NaN											1	0	2.61681e-11	0.00245	2.85756e-11	15	109				
MAMDC4	158056	broad.mit.edu	37	9	139750491	139750491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr9:139750491G>A	uc004cjs.2	+	14	1660	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTCTGCAGCGGGCCTGGGGG	0.632		NaN											0	0	0	0.008871	0	18	110				
PTCHD1	139411	broad.mit.edu	37	X	23411319	23411319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:23411319G>T	uc004dal.3	+	3	1692	c.1684G>T	c.(1684-1686)GAG>TAG	p.E562*		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	562					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TTACATATATGAGTCTATAGA	0.403		NaN											1	0	0.000274275	0.004482	0.000282555	9	152				
ATRX	546	broad.mit.edu	37	X	76939791	76939791	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:76939791C>G	uc004ecp.3	-	9	1189	c.957G>C	c.(955-957)AAG>AAC	p.K319N	ATRX_uc004ecq.3_Missense_Mutation_p.K281N|ATRX_uc004eco.3_Missense_Mutation_p.K104N|ATRX_uc004ecr.2_Missense_Mutation_p.K280N|ATRX_uc010nlx.1_Missense_Mutation_p.K319N|ATRX_uc010nly.1_Missense_Mutation_p.K264N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTGAACTAGTCTTCTTTGGAG	0.333		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.008291	0	11	80				
ZFY	7544	broad.mit.edu	37	Y	2847298	2847298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrY:2847298C>T	uc004fqj.2	+	8	1991	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	ZFY_uc011nan.1_Missense_Mutation_p.S366L|ZFY_uc010nwe.2_Missense_Mutation_p.S480L	NM_003411	NP_003402	P08048	ZFY_HUMAN	zinc finger protein, Y-linked isoform 1	557	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGACACCCGTCGGAACTGAGA	0.473		NaN											0	0	0	0.001984	0	6	26				
CALML6	163688	broad.mit.edu	37	1	1848429	1848429	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:1848429G>T	uc001aih.1	+	5	869	c.415G>T	c.(415-417)GCA>TCA	p.A139S		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	calmodulin-like 6	139	EF-hand 3.					cytoplasm|nucleus	calcium ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTAATGAACGCAGGGGAGCC	0.667		NaN											1	0	8.34094e-07	0.049695	8.73136e-07	20	43				
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:6445578G>C	uc001ams.2	-	1	306	c.149C>G	c.(148-150)CCC>CGC	p.P50R	ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Intron|ACOT7_uc001amu.2_Intron|ACOT7_uc001amv.2_Intron	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	50						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652		NaN											0	0	0	0.048971	0	90	154				
GRIK3	2899	broad.mit.edu	37	1	37319237	37319237	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:37319237C>A	uc001caz.2	-	8	1326	c.1191G>T	c.(1189-1191)CTG>CTT	p.L397L	GRIK3_uc001cba.1_Silent_p.L397L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	397	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATCCTCTTTCAGGCTGATGA	0.542		NaN											1	0	1.42536e-11	0.099896	1.53788e-11	28	41				
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70488833G>A	uc001dep.2	+	15	1486	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	486						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGCCCCCTGGGAAAGGGGCCA	0.517		NaN											0	0	0	0.038395	0	18	71				
LRRC40	55631	broad.mit.edu	37	1	70616831	70616831	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70616831C>T	uc001der.1	-	13	1549	c.1497G>A	c.(1495-1497)ACG>ACA	p.T499T		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	499	LRR 17.									ovary(1)	1						AAAGATTGATCGTTTGCAGTC	0.294		NaN											0	0	0	0.038147	0	6	22				
KCNA10	3744	broad.mit.edu	37	1	111061072	111061072	+	Missense_Mutation	SNP	C	C	T	rs141128096		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:111061072C>T	uc001dzt.1	-	1	726	c.338G>A	c.(337-339)GGA>GAA	p.G113E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	113						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCCCGGTCTCCCAGGAGAGT	0.458		NaN											0	0	0	0.055883	0	21	44				
SEC22B	9554	broad.mit.edu	37	1	145103968	145103968	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145103968G>A	uc001eml.1	+	4	276	c.136G>A	c.(136-138)GAA>AAA	p.E46K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	46	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						AAAGTTGAATGAACAGTCCCC	0.383		NaN											0	0	0	0.0333	0	16	33				
FLG	2312	broad.mit.edu	37	1	152283577	152283577	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152283577G>C	uc001ezu.1	-	3	3821	c.3785C>G	c.(3784-3786)ACA>AGA	p.T1262R	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1262	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTTGTCCTGGACCC	0.532		NaN							Ichthyosis				0	0	0	0.048971	0	87	771				
FLG2	388698	broad.mit.edu	37	1	152324511	152324511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152324511C>G	uc001ezw.3	-	3	5824	c.5751G>C	c.(5749-5751)AAG>AAC	p.K1917N	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGGTGTCTCTTGTGAACTG	0.502		NaN											0	0	0	0.048971	0	70	546				
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:155161799T>G	uc010pft.1	-	2	400	c.334A>C	c.(334-336)ACC>CCC	p.T112P	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	112	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711		NaN	T	IGH@	B-NHL								0	0	0	0.099896	0	16	62				
IQGAP3	128239	broad.mit.edu	37	1	156500962	156500962	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:156500962G>A	uc001fpf.2	-	33	4256	c.4181C>T	c.(4180-4182)TCC>TTC	p.S1394F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1394					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCTCTCTGGAAGCCGAGAG	0.582		NaN											0	0	0	0.048971	0	42	267				
CD1E	913	broad.mit.edu	37	1	158325145	158325145	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:158325145C>T	uc001fse.2	+	3	650	c.411C>T	c.(409-411)TTC>TTT	p.F137F	CD1E_uc010pid.1_Silent_p.F135F|CD1E_uc010pie.1_Silent_p.F38F|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.F137F|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.F137F|CD1E_uc001fry.2_Silent_p.F137F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.F137F|CD1E_uc009wsv.2_Silent_p.F38F|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	137					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CACAAATCTTCTTAAATATGG	0.463		NaN											0	0	0	0.11126	0	43	257				
F5	2153	broad.mit.edu	37	1	169505755	169505755	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:169505755C>T	uc001ggg.1	-	14	5105	c.4960G>A	c.(4960-4962)GAT>AAT	p.D1654N		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1654	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGATAACATCATCCACTTCA	0.458		NaN											0	0	0	0.021553	0	5	26				
FAM5C	339479	broad.mit.edu	37	1	190067739	190067739	+	Silent	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:190067739A>C	uc001gse.1	-	8	1942	c.1710T>G	c.(1708-1710)GCT>GCG	p.A570A	FAM5C_uc010pot.1_Silent_p.A468A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	570						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGACATAAACAGCCAACACTG	0.453		NaN											0	0	0	0.014758	0	5	125				
CD34	947	broad.mit.edu	37	1	208072507	208072507	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:208072507A>G	uc001hgw.1	-	3	585	c.327T>C	c.(325-327)TCT>TCC	p.S109S	CD34_uc001hgx.1_Silent_p.S109S|CD34_uc010psj.1_Intron	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	109	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						GTGACTGGACAGAAGAGTTTG	0.468		NaN											0	0	0	0.048971	0	130	64				
DISP1	84976	broad.mit.edu	37	1	223177436	223177436	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223177436G>A	uc001hnu.1	+	8	2844	c.2697G>A	c.(2695-2697)AGG>AGA	p.R899R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	899					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGCTGGAAAGGAGTACAGGGT	0.493		NaN											0	0	0	0.108266	0	27	45				
SUSD4	55061	broad.mit.edu	37	1	223465953	223465953	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223465953G>A	uc001hnx.2	-	2	823	c.189C>T	c.(187-189)CCC>CCT	p.P63P	SUSD4_uc001hny.3_Silent_p.P63P|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.P63P|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	63	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AGCCATTCTCGGGAATGCCGG	0.517		NaN											0	0	0	0.048971	0	47	32				
RGS7	6000	broad.mit.edu	37	1	241099994	241099994	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:241099994T>C	uc001hyv.2	-	5	569	c.239A>G	c.(238-240)CAT>CGT	p.H80R	RGS7_uc010pyh.1_Missense_Mutation_p.H54R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.H80R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H80R	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTTCCCAAATGGAGCGCCTC	0.383		NaN											0	0	0	0.083992	0	24	49				
OR2M2	391194	broad.mit.edu	37	1	248343646	248343646	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:248343646A>G	uc010pzf.1	+	1	359	c.359A>G	c.(358-360)TAT>TGT	p.Y120C		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTATGGCTTATGACCGCTAT	0.413		NaN											0	0	0	0.048971	0	53	215				
PITRM1	10531	broad.mit.edu	37	10	3180309	3180309	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:3180309C>T	uc010qah.1	-	24	2766	c.2734G>A	c.(2734-2736)GGC>AGC	p.G912S	PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Missense_Mutation_p.G115S|PITRM1_uc001igt.1_Missense_Mutation_p.G1010S			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	912					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TTCCCAGTGCCGAGGTATCTG	0.607		NaN											0	0	0	0.021553	0	5	6				
CDH23	64072	broad.mit.edu	37	10	73571082	73571082	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:73571082A>G	uc001jrx.3	+	61	9465	c.9088A>G	c.(9088-9090)ATG>GTG	p.M3030V	CDH23_uc001jsg.3_Missense_Mutation_p.M790V|CDH23_uc001jsh.3_Missense_Mutation_p.M790V|CDH23_uc001jsi.3_Missense_Mutation_p.M790V|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3030	Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGTGATCCAGATGATCGATGA	0.592		NaN											0	0	0	0.09836	0	39	31				
SORCS3	22986	broad.mit.edu	37	10	106982952	106982952	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:106982952G>C	uc001kyi.1	+	20	3040	c.2813G>C	c.(2812-2814)TGG>TCG	p.W938S	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	938	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCAGTCGTGTGGCCCAGTCAA	0.443		NaN											0	0	0	0.048971	0	89	16				
FAM175B	23172	broad.mit.edu	37	10	126523241	126523241	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:126523241G>A	uc001lib.3	+	9	994	c.949G>A	c.(949-951)GAA>AAA	p.E317K		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	317						BRISC complex	polyubiquitin binding				0						AAACAATCAAGAAAGTACTTT	0.517		NaN											0	0	0	0.028581	0	17	37				
CYP2E1	1571	broad.mit.edu	37	10	135350635	135350635	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:135350635G>C	uc001lnj.1	+	7	1069	c.1036G>C	c.(1036-1038)GAG>CAG	p.E346Q	CYP2E1_uc001lnk.1_Missense_Mutation_p.E209Q|CYP2E1_uc009ybl.1_Missense_Mutation_p.E147Q|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.E147Q	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	346					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATAGGCAAGAGATGCCCTA	0.517		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	0.020292	0	13	41				
KRTAP5-1	387264	broad.mit.edu	37	11	1605847	1605847	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:1605847G>A	uc001ltu.1	-	1	667	c.633C>T	c.(631-633)CCC>CCT	p.P211P	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	211	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAACACACGGGCACACCGC	0.657		NaN											0	0	0	0.11126	0	40	95				
OR51A4	401666	broad.mit.edu	37	11	4967470	4967470	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:4967470C>T	uc010qys.1	-	1	861	c.861G>A	c.(859-861)CTG>CTA	p.L287L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGTTCGTCAGTGGAGGTA	0.428		NaN											0	0	0	0.041601	0	33	59				
OR10A2	341276	broad.mit.edu	37	11	6891085	6891085	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:6891085C>A	uc001meu.1	+	1	100	c.100C>A	c.(100-102)CTG>ATG	p.L34M		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	34	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCATCATTCTGGTTACCCT	0.463		NaN											1	0	9.59835e-30	0.048971	1.09823e-29	56	127				
OR4X2	119764	broad.mit.edu	37	11	48267353	48267353	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48267353G>A	uc001ngs.1	+	1	698	c.698G>A	c.(697-699)GGG>GAG	p.G233E		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	233	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCCACCTGTGGGTCCCATTTC	0.522		NaN											0	0	0	0.047766	0	9	47				
OR4C3	256144	broad.mit.edu	37	11	48346728	48346728	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48346728C>T	uc010rhv.1	+	1	236	c.236C>T	c.(235-237)ACG>ATG	p.T79M		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCCAGCCCCACGCTGGCTTCC	0.448		NaN											0	0	0	0.037714	0	31	60				
OR4C13	283092	broad.mit.edu	37	11	49974164	49974164	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:49974164C>T	uc010rhz.1	+	1	190	c.190C>T	c.(190-192)CTC>TTC	p.L64F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CCTGGCCTATCTCTCCTTTAT	0.433		NaN											0	0	0	0.099896	0	25	242				
OR5B17	219965	broad.mit.edu	37	11	58126261	58126261	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:58126261G>A	uc010rke.1	-	1	282	c.282C>T	c.(280-282)GCC>GCT	p.A94A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAGCACAGGCACTGTAGG	0.483		NaN											0	0	0	0.054565	0	33	31				
SLC22A12	116085	broad.mit.edu	37	11	64368979	64368979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:64368979C>T	uc001oam.1	+	10	2365	c.1618C>T	c.(1618-1620)CAT>TAT	p.H540Y	SLC22A12_uc001oal.1_Missense_Mutation_p.H319Y|SLC22A12_uc009yps.1_Missense_Mutation_p.H506Y|SLC22A12_uc001oan.1_Missense_Mutation_p.H432Y	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	540					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GAAGGCAACACATGGCACGCT	0.567		NaN											0	0	0	0.021553	0	6	17				
MRPL11	65003	broad.mit.edu	37	11	66206132	66206132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:66206132C>G	uc001ohz.3	-	1	179	c.94G>C	c.(94-96)GGG>CGG	p.G32R	MRPL11_uc001ohy.3_Missense_Mutation_p.G32R|MRPL11_uc001oia.3_Intron	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11 isoform a	32					translation		structural constituent of ribosome				0						AGTGGGGGCCCGGGCATGGCC	0.697		NaN											0	0	0	0.092188	0	38	13				
CLPB	81570	broad.mit.edu	37	11	72012890	72012890	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:72012890G>A	uc001osj.2	-	12	1426	c.1376C>T	c.(1375-1377)GCC>GTC	p.A459V	CLPB_uc010rqx.1_Missense_Mutation_p.A414V|CLPB_uc010rqy.1_Missense_Mutation_p.A400V|CLPB_uc001osk.2_Missense_Mutation_p.A429V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A258V|CLPB_uc001osi.2_Missense_Mutation_p.A67V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	459					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ATCTGGATGGGCCTTGTCTAC	0.567		NaN											0	0	0	0.047766	0	9	265				
UCP2	7351	broad.mit.edu	37	11	73689056	73689056	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:73689056C>A	uc001oup.1	-	4	592	c.212G>T	c.(211-213)CGT>CTT	p.R71L	UCP2_uc001ouq.1_Missense_Mutation_p.R71L	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	71	Solcar 1.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					GCCCTCAGTACGCACCATGGT	0.602		NaN											1	0	2.12129e-23	0.048971	2.39374e-23	54	41				
CTSC	1075	broad.mit.edu	37	11	88070744	88070744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:88070744G>A	uc001pck.3	-	1	198	c.97C>T	c.(97-99)CTT>TTT	p.L33F	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.L33F|CTSC_uc001pcn.3_Missense_Mutation_p.L33F	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	33					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAGGTCAAGATAGGTGCAG	0.672		NaN											0	0	0	0.021553	0	5	6				
FAT3	120114	broad.mit.edu	37	11	92532148	92532148	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:92532148C>T	uc001pdj.3	+	9	5986	c.5969C>T	c.(5968-5970)TCA>TTA	p.S1990L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1990	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCCACCTCAATCTCAGAG	0.428		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.048971	0	92	135				
DIXDC1	85458	broad.mit.edu	37	11	111853166	111853166	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:111853166A>G	uc001pml.2	+	8	1170	c.873A>G	c.(871-873)TTA>TTG	p.L291L	DIXDC1_uc001pmm.2_Silent_p.L80L|DIXDC1_uc001pmn.2_5'UTR	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	291	Potential.|Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGAATATTTAGAAAAAGAAA	0.433		NaN									OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.004672	0	3	18				
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:119020905G>A	uc001pvs.2	+	2	566	c.230G>A	c.(229-231)CGC>CAC	p.R77H	ABCG4_uc009zar.2_Missense_Mutation_p.R77H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	77	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622		NaN											0	0	0	0.048971	0	48	85				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:3649787T>C	uc001qmf.2	+	2	458	c.91T>C	c.(91-93)TCC>CCC	p.S31P	PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	31	SH3-binding 1.				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652		NaN											0	0	0	0.059317	0	21	137				
GALNT8	26290	broad.mit.edu	37	12	4835870	4835870	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:4835870G>T	uc001qne.1	+	2	476	c.384G>T	c.(382-384)TGG>TGT	p.W128C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	128	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						TCAGGCAATGGGGCGAGGATC	0.517		NaN											1	0	8.58068e-18	0.034045	9.55135e-18	31	33				
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:13208856A>G	uc001rbi.2	+	2	432	c.409A>G	c.(409-411)AGC>GGC	p.S137G	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	137						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517		NaN											0	0	0	0.020292	0	8	58				
SOX5	6660	broad.mit.edu	37	12	23793806	23793806	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:23793806G>T	uc001rfw.2	-	8	1059	c.957C>A	c.(955-957)ATC>ATA	p.I319I	SOX5_uc001rfx.2_Silent_p.I306I|SOX5_uc001rfy.2_Silent_p.I306I|SOX5_uc010siv.1_Silent_p.I306I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.I271I	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	319					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGGTAGTTGGGATCAGCTGAA	0.473		NaN											1	0	1.00221e-16	0.048971	1.10558e-16	49	74				
DENND5B	160518	broad.mit.edu	37	12	31633168	31633168	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:31633168A>T	uc001rki.1	-	3	445	c.259T>A	c.(259-261)TCT>ACT	p.S87T	DENND5B_uc001rkh.1_Missense_Mutation_p.S122T|DENND5B_uc009zjq.1_Missense_Mutation_p.S6T|DENND5B_uc001rkj.2_Missense_Mutation_p.S109T|DENND5B_uc001rkk.1_Missense_Mutation_p.S9T	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	87	UDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GTCCTGAAAGATAGCCCTTTA	0.353		NaN											0	0	0	0.009096	0	3	17				
C12orf35	55196	broad.mit.edu	37	12	32136195	32136195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:32136195C>A	uc001rks.2	+	4	2720	c.2306C>A	c.(2305-2307)TCA>TAA	p.S769*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	769										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTAGTTCTGTCAGAGGTCAAA	0.378		NaN											1	0	2.08457e-15	0.045705	2.27913e-15	32	54				
ARID2	196528	broad.mit.edu	37	12	46230707	46230707	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:46230707C>T	uc001ros.1	+	8	956	c.956C>T	c.(955-957)TCT>TTT	p.S319F	ARID2_uc001ror.2_Missense_Mutation_p.S319F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTATTACTTTCTGCACATAGT	0.378		NaN											0	0	0	0.049695	0	21	58		Valid		
FMNL3	91010	broad.mit.edu	37	12	50044617	50044617	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:50044617C>T	uc001ruv.1	-	17	2076	c.1842G>A	c.(1840-1842)GCG>GCA	p.A614A	FMNL3_uc001ruw.1_Silent_p.A563A|FMNL3_uc001rut.1_Silent_p.A180A|FMNL3_uc001ruu.1_Silent_p.A464A	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	614	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						CAGGGCCCTGCGCTTTTGTCT	0.498		NaN											0	0	0	0.045705	0	31	79				
NR4A1	3164	broad.mit.edu	37	12	52449884	52449884	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:52449884G>A	uc001rzs.2	+	4	1261	c.947G>A	c.(946-948)CGA>CAA	p.R316Q	NR4A1_uc010sno.1_Missense_Mutation_p.R329Q|NR4A1_uc001rzt.2_Missense_Mutation_p.R316Q|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316	NR C4-type.|Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGAGGCGGCGAAACCGCTGC	0.632		NaN											0	0	0	0.062417	0	22	96				
NAB2	4665	broad.mit.edu	37	12	57485744	57485744	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:57485744C>G	uc001smz.2	+	2	1298	c.920C>G	c.(919-921)TCT>TGT	p.S307C		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	307	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGTTTCGACTCTAAGCGGCGG	0.567		NaN											0	0	0	0.009096	0	4	97				
TBK1	29110	broad.mit.edu	37	12	64875732	64875732	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:64875732G>A	uc001ssc.1	+	8	985	c.923G>A	c.(922-924)CGA>CAA	p.R308Q		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	308	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		ATACTTCACCGAATGGTAATT	0.348		NaN											0	0	0	0.058154	0	10	27				
VEZT	55591	broad.mit.edu	37	12	95656756	95656756	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:95656756G>T	uc001tdz.2	+	4	438	c.333G>T	c.(331-333)CTG>CTT	p.L111L	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L63L|VEZT_uc001tdt.2_Silent_p.L63L|VEZT_uc009zsz.1_Silent_p.L111L|VEZT_uc001tdv.2_Silent_p.L80L|VEZT_uc001tdw.1_Silent_p.L63L|VEZT_uc009zta.1_Silent_p.L63L	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	111						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						ATGTGGAGCTGATTGAGCTAC	0.453		NaN											1	0	9.45814e-24	0.074837	1.07221e-23	38	108				
RB1	5925	broad.mit.edu	37	13	49050981	49050981	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:49050981T>C	uc001vcb.2	+	25	2829	c.2663_splice	c.e25+2	p.S888_splice		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGGAAGGTAGGAACCAGT	0.453		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.108266	0	25	74		Valid		
NALCN	259232	broad.mit.edu	37	13	101720314	101720314	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:101720314G>A	uc001vox.1	-	39	4591	c.4402C>T	c.(4402-4404)CGC>TGC	p.R1468C		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1468	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAAGTGGCGAAGATCATTG	0.363		NaN											0	0	0	0.009096	0	4	56				
TPP2	7174	broad.mit.edu	37	13	103249446	103249446	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:103249446G>A	uc001vpi.3	+	1	161	c.58G>A	c.(58-60)GAG>AAG	p.E20K		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	20					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCGAAGAAGGAGACCGGAGC	0.677		NaN											0	0	0	0.069234	0	10	29				
ZNF828	283489	broad.mit.edu	37	13	115089871	115089871	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:115089871C>T	uc010ahb.2	+	3	883	c.554C>T	c.(553-555)CCT>CTT	p.P185L	ZNF828_uc001vuv.2_Missense_Mutation_p.P185L|ZNF828_uc010tko.1_Missense_Mutation_p.P185L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	185	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		GTTTCTTCTCCTGAACCTCCA	0.507		NaN											0	0	0	0.11126	0	42	156				
C14orf101	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	rs144727961	by1000genomes	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:57052563C>T	uc001xcm.2	+	3	399	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	93						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AATTGCCTACCGCGTCAATCT	0.403		NaN											0	0	0	0.069288	0	21	50				
ALKBH1	8846	broad.mit.edu	37	14	78140190	78140190	+	Missense_Mutation	SNP	C	C	T	rs146924402	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:78140190C>T	uc001xuc.1	-	6	1144	c.1135G>A	c.(1135-1137)GAA>AAA	p.E379K	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	379					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGTTTTACTTCGCTATTCTGG	0.463		NaN											0	0	0	0.099896	0	27	44				
CDC42BPB	9578	broad.mit.edu	37	14	103426018	103426018	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:103426018T>C	uc001ymi.1	-	21	3083	c.2851A>G	c.(2851-2853)ATT>GTT	p.I951V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.I79V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	951					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACTCAAAAATGGAATCCTGA	0.333		NaN											0	0	0	0.038395	0	15	4				
HERC2	8924	broad.mit.edu	37	15	28456242	28456242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:28456242G>A	uc001zbj.2	-	44	7081	c.6975C>T	c.(6973-6975)ATC>ATT	p.I2325I		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCTTTCAGGATGTATAGCT	0.577		NaN											0	0	0	0.059317	0	30	48				
NARG2	79664	broad.mit.edu	37	15	60740312	60740312	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:60740312C>G	uc002agp.2	-	11	2387	c.2152G>C	c.(2152-2154)GAT>CAT	p.D718H	NARG2_uc002ago.2_Missense_Mutation_p.D581H|NARG2_uc002agq.3_Intron	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	718						nucleus				ovary(1)|lung(1)	2						TCCGATGTATCTTCAACATAG	0.363		NaN											0	0	0	0.043863	0	20	36				
CCDC78	124093	broad.mit.edu	37	16	775574	775574	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:775574G>A	uc002cjg.2	-	4	380	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R166W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R92W|CCDC78_uc002cjk.2_Missense_Mutation_p.R92W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92	Potential.									central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677		NaN											0	0	0	0.09319	0	12	43				
CEMP1	752014	broad.mit.edu	37	16	2580885	2580885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:2580885C>T	uc002cqr.2	-	1	546	c.190G>A	c.(190-192)GTG>ATG	p.V64M	AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	64						cytoplasm				skin(1)	1						GGGATACCCACCTCTGCCTTG	0.662		NaN											0	0	0	0.049695	0	17	45				
ZSCAN10	84891	broad.mit.edu	37	16	3139654	3139654	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:3139654G>A	uc002ctv.1	-	5	1704	c.1616C>T	c.(1615-1617)GCC>GTC	p.A539V	ZSCAN10_uc002cty.1_Missense_Mutation_p.A200V|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A457V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A467V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	539	C2H2-type 8.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CAGGTGGCGGGCAAGGCTGGC	0.706		NaN											0	0	0	0.014758	0	5	19				
OTOA	146183	broad.mit.edu	37	16	21696662	21696662	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:21696662G>C	uc002djh.2	+	6	380	c.379G>C	c.(379-381)GAA>CAA	p.E127Q	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.E48Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	127					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		ATGCCTCTTAGAAGACAAGAA	0.557		NaN											0	0	0	0.014758	0	5	56				
ZKSCAN2	342357	broad.mit.edu	37	16	25258366	25258366	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:25258366C>T	uc002dod.3	-	5	1558	c.1151G>A	c.(1150-1152)TGT>TAT	p.C384Y	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.C180Y|ZKSCAN2_uc002doe.2_Missense_Mutation_p.C384Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		AAGGAAGCCACATTCTCGCAA	0.483		NaN											0	0	0	0.048971	0	94	72				
PYDC1	260434	broad.mit.edu	37	16	31228334	31228334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:31228334C>T	uc002ebo.2	-	1	65	c.16G>A	c.(16-18)GAG>AAG	p.E6K	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	6	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						AGGATGGCCTCGCGCTTCGTT	0.647		NaN											0	0	0	0.02938	0	5	49				
CIRH1A	84916	broad.mit.edu	37	16	69184784	69184784	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:69184784C>G	uc002ews.3	+	8	1075	c.979C>G	c.(979-981)CTC>GTC	p.L327V	CIRH1A_uc002ewr.2_Missense_Mutation_p.L327V|CIRH1A_uc002ewt.3_Missense_Mutation_p.L244V|CIRH1A_uc010cfi.2_Missense_Mutation_p.L244V|CIRH1A_uc010cfj.1_Missense_Mutation_p.L146V	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	327	WD 8.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGATGCCGCTCTCCGAAAAAT	0.522		NaN											0	0	0	0.043863	0	19	51				
HYDIN	54768	broad.mit.edu	37	16	70841650	70841650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:70841650C>T	uc002ezr.2	-	86	15324	c.15196G>A	c.(15196-15198)GAG>AAG	p.E5066K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5067										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CGCACAGACTCTCCAGCGCGA	0.512		NaN											0	0	0	0.108266	0	28	91				
PHLPP2	23035	broad.mit.edu	37	16	71682799	71682799	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:71682799T>A	uc002fax.2	-	18	3972	c.3966A>T	c.(3964-3966)GCA>GCT	p.A1322A	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.A1255A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1322						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCAGTCATAGTGCTGTGTCGA	0.542		NaN											0	0	0	0.048971	0	52	28				
OR1A1	8383	broad.mit.edu	37	17	3119784	3119784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:3119784G>A	uc010vrc.1	+	1	870	c.870G>A	c.(868-870)CTG>CTA	p.L290L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCTACAGTCTGAGAAATCGGG	0.463		NaN											0	0	0	0.080422	0	38	104				
CAMTA2	23125	broad.mit.edu	37	17	4883062	4883062	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4883062G>A	uc002gah.1	-	9	1663	c.1555C>T	c.(1555-1557)CCA>TCA	p.P519S	CAMTA2_uc010cku.1_Missense_Mutation_p.P542S|CAMTA2_uc002gag.1_Missense_Mutation_p.P518S|CAMTA2_uc002gai.1_Missense_Mutation_p.P521S|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166S|CAMTA2_uc010vsu.1_Missense_Mutation_p.P332S	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	519					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGGATGCTTGGAGCTTCGTCA	0.557		NaN											0	0	0	0.042209	0	45	109				
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577084T>A	uc002gim.2	-	8	1048	c.854A>T	c.(853-855)GAG>GTG	p.E285V	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATTCTCTTCCTCTGTGCGCCG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.034045	0	30	36		Valid		
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.062417	0	23	31		Valid		
RPL26	6154	broad.mit.edu	37	17	8285552	8285552	+	Missense_Mutation	SNP	C	C	T	rs11542516		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:8285552C>T	uc002glh.1	-	2	173	c.77G>A	c.(76-78)CGA>CAA	p.R26Q		NM_000987	NP_000978	P61254	RL26_HUMAN	ribosomal protein L26	26					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						AATCTTCCTTCGAATGTGGGA	0.418		NaN											0	0	0	0.069234	0	11	36				
SUPT6H	6830	broad.mit.edu	37	17	27011886	27011886	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27011886G>T	uc002hby.2	+	19	2484	c.2394G>T	c.(2392-2394)CTG>CTT	p.L798L	SUPT6H_uc010crt.2_Silent_p.L798L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	798					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TCTGCGCCCTGGTCAATGGTG	0.453		NaN											1	0	7.41877e-09	0.062417	7.90051e-09	21	46				
PROCA1	147011	broad.mit.edu	37	17	27031334	27031334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27031334C>T	uc002hcb.3	-	4	556	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	PROCA1_uc010crv.2_Missense_Mutation_p.R44Q|PROCA1_uc002hca.1_Missense_Mutation_p.R116Q	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	144					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					CCAGCCATACCGGAATCGCTC	0.642		NaN											0	0	0	0.048971	0	50	243				
ABHD15	116236	broad.mit.edu	37	17	27893269	27893269	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27893269C>G	uc002hed.1	-	1	780	c.716G>C	c.(715-717)GGC>GCC	p.G239A	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	239						extracellular region	carboxylesterase activity				0						CAGCGCCGAGCCCGAGCCTTC	0.697		NaN											0	0	0	0.069234	0	11	46				
PIGW	284098	broad.mit.edu	37	17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:34894046C>T	uc002hmy.1	+	2	1139	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Nonsense_Mutation_p.R366*	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	366					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343		NaN											0	0	0	0.009096	0	4	65				
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:37866359G>T	uc002hso.2	+	6	902	c.664G>T	c.(664-666)GGT>TGT	p.G222C	ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	222	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCTGTGCCGGTGGCTGTGC	0.647		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			1	0	2.96211e-45	0.048971	3.40504e-45	101	47		Valid		
KRT38	8687	broad.mit.edu	37	17	39597029	39597029	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:39597029C>T	uc002hwq.1	-	1	568	c.145G>A	c.(145-147)GTG>ATG	p.V49M		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	49	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				GCATGTGCCACGTTGGCCAAA	0.632		NaN											0	0	0	0.069234	0	10	120				
NKIRAS2	28511	broad.mit.edu	37	17	40175690	40175690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:40175690G>A	uc002hyq.2	+	4	420	c.355G>A	c.(355-357)GGC>AGC	p.G119S	NKIRAS2_uc010wgd.1_Silent_p.L86L|NKIRAS2_uc002hyr.2_Missense_Mutation_p.G119S|NKIRAS2_uc002hys.2_Missense_Mutation_p.G119S|NKIRAS2_uc010wge.1_Missense_Mutation_p.G63S|NKIRAS2_uc002hyt.2_Missense_Mutation_p.G119S	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	119	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGGTCCTTGGCAACAAGTG	0.572		NaN											0	0	0	0.069288	0	18	81				
ITGA2B	3674	broad.mit.edu	37	17	42457993	42457993	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:42457993C>T	uc002igt.1	-	14	1446	c.1414G>A	c.(1414-1416)GGG>AGG	p.G472R	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	472	Extracellular (Potential).|FG-GAP 7.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G472R(1)		ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGGTTGGCCCCGTAAGCTCCC	0.597		NaN											0	0	0	0.039052	0	40	59				
SPATA20	64847	broad.mit.edu	37	17	48628894	48628894	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:48628894T>C	uc002irf.2	+	12	1692	c.1551T>C	c.(1549-1551)GCT>GCC	p.A517A	SPATA20_uc002irc.2_Silent_p.A184A|SPATA20_uc002ire.2_Silent_p.A473A|SPATA20_uc002ird.2_Silent_p.A533A|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	517					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CAGGCTATGCTGTGACTGGGG	0.582		NaN											0	0	0	0.09319	0	12	82				
C17orf71	55181	broad.mit.edu	37	17	57289841	57289841	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:57289841C>G	uc002ixi.2	+	2	1941	c.1899C>G	c.(1897-1899)TTC>TTG	p.F633L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	633					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATTATGACTTCTATCAGGTAG	0.368		NaN											0	0	0	0.014758	0	4	108				
EVPL	2125	broad.mit.edu	37	17	74011020	74011020	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:74011020G>A	uc002jqi.2	-	17	2427	c.2199C>T	c.(2197-2199)GCC>GCT	p.A733A	EVPL_uc010wss.1_Silent_p.A755A|EVPL_uc010wst.1_Silent_p.A203A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	733	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GGTCCCCTACGGCGTGGTAGC	0.542		NaN											0	0	0	0.009096	0	4	67				
CARD14	79092	broad.mit.edu	37	17	78180861	78180861	+	Silent	SNP	C	C	T	rs140536892		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:78180861C>T	uc002jxw.1	+	20	2979	c.2784C>T	c.(2782-2784)AAC>AAT	p.N928N	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	928	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCTGTCAACGAGAAGATGG	0.612		NaN											0	0	0	0.11126	0	42	27				
NPB	256933	broad.mit.edu	37	17	79860514	79860514	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:79860514G>A	uc002kcd.2	+	2	350	c.268G>A	c.(268-270)GTC>ATC	p.V90I		NM_148896	NP_683694	Q8NG41	NPB_HUMAN	preproneuropeptide B precursor	90					neuropeptide signaling pathway	extracellular region					0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGTCCAGGACGTCGCCCCAAA	0.726		NaN											0	0	0	0.021553	0	6	33				
HEXDC	284004	broad.mit.edu	37	17	80400084	80400084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:80400084G>A	uc002kew.2	+	12	1336	c.1285G>A	c.(1285-1287)GAG>AAG	p.E429K	HEXDC_uc002kev.3_Silent_p.R458R|HEXDC_uc010diq.2_Missense_Mutation_p.G431E|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	429					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTCGTGCAGGAGCTGGAGGC	0.642		NaN											0	0	0	0.020292	0	13	57				
AP3D1	8943	broad.mit.edu	37	19	2111719	2111719	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:2111719C>T	uc002luz.2	-	23	2933	c.2710G>A	c.(2710-2712)GAG>AAG	p.E904K	AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E863K|AP3D1_uc002lva.2_Missense_Mutation_p.E966K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	904					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACCGGCTCCCCCGCTGCC	0.498		NaN											0	0	0	0.009096	0	4	8				
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7684884C>T	uc002mgx.2	-	17	2370	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CGCTCCGCCTCAGCCGCCAGC	0.667		NaN						Direct_reversal_of_damage|NER					0	0	0	0.038395	0	16	63				
CLEC4M	10332	broad.mit.edu	37	19	7831632	7831632	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7831632C>G	uc002mih.2	+	6	924	c.806C>G	c.(805-807)TCC>TGC	p.S269C	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.S225C|CLEC4M_uc010dvt.2_Missense_Mutation_p.S246C|CLEC4M_uc010dvs.2_Missense_Mutation_p.S268C|CLEC4M_uc010xjx.1_Missense_Mutation_p.S241C|CLEC4M_uc002mhz.2_Missense_Mutation_p.S200C|CLEC4M_uc002mic.2_Missense_Mutation_p.S264C|CLEC4M_uc002mia.2_Missense_Mutation_p.S156C	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	292	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						TGGCACGACTCCGTCACCGCC	0.597		NaN											0	0	0	0.055883	0	22	102				
DOCK6	57572	broad.mit.edu	37	19	11312572	11312572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:11312572C>T	uc002mqs.3	-	44	5722	c.5681G>A	c.(5680-5682)CGG>CAG	p.R1894Q	DOCK6_uc002mqr.3_Missense_Mutation_p.R294Q|DOCK6_uc010xlq.1_Missense_Mutation_p.R1233Q	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1894	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CACCTCCTCCCGGTGGCACAC	0.677		NaN											0	0	0	0.009096	0	4	12				
MYO9B	4650	broad.mit.edu	37	19	17295781	17295781	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:17295781C>T	uc010eak.2	+	17	2633	c.2481C>T	c.(2479-2481)ATC>ATT	p.I827I	MYO9B_uc002nfi.2_Silent_p.I827I|MYO9B_uc002nfj.1_Silent_p.I827I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CACCAAGCATCAGCGCCCAGT	0.557		NaN											0	0	0	0.080935	0	8	229				
KLHL26	55295	broad.mit.edu	37	19	18779242	18779242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:18779242G>A	uc002njz.1	+	3	1062	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	345	Kelch 1.									ovary(1)	1						GCGAGCTCACGGAGATGGAGG	0.682		NaN											0	0	0	0.062417	0	19	17				
ZNF492	57615	broad.mit.edu	37	19	22847804	22847805	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:22847804_22847805GG>TT	uc002nqw.3	+	4	1577_1578	c.1333_1334GG>TT	c.(1333-1335)GGA>TTA	p.G445L		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATTCATACTGGAGAGAAGCCC	0.376		NaN											0	0	0	0.004672	0	26	47				
ZNF792	126375	broad.mit.edu	37	19	35449114	35449114	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:35449114G>A	uc002nxh.1	-	4	2032	c.1645C>T	c.(1645-1647)CTG>TTG	p.L549L		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	549	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTGCCTCAGATTGGACCTC	0.527		NaN											0	0	0	0.105934	0	13	37				
CATSPERG	57828	broad.mit.edu	37	19	38845387	38845387	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845387G>C	uc002oih.3	+	9	1122	c.1035G>C	c.(1033-1035)AAG>AAC	p.K345N	CATSPERG_uc002oig.3_Missense_Mutation_p.K345N|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	345	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						AGTGCATCAAGAAGCTGTGCC	0.562		NaN											0	0	0	0.058154	0	9	256				
CATSPERG	57828	broad.mit.edu	37	19	38845424	38845424	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845424G>C	uc002oih.3	+	9	1159	c.1072G>C	c.(1072-1074)GAG>CAG	p.E358Q	CATSPERG_uc002oig.3_Missense_Mutation_p.E358Q|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	358	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						CAATGGCTCTGAGTACATAAT	0.557		NaN											0	0	0	0.069234	0	11	337				
C19orf54	284325	broad.mit.edu	37	19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:41248439G>A	uc002oou.1	-	6	1075	c.955C>T	c.(955-957)CGG>TGG	p.R319W	C19orf54_uc002oow.1_Missense_Mutation_p.R147W|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	319											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647		NaN											0	0	0	0.080935	0	12	13				
MEGF8	1954	broad.mit.edu	37	19	42866549	42866549	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:42866549G>A	uc002otl.3	+	33	6292	c.5657G>A	c.(5656-5658)CGC>CAC	p.R1886H	MEGF8_uc002otm.3_Missense_Mutation_p.R1494H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1953	Extracellular (Potential).|PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TCCACCCCCCGCTGTAAGTGG	0.607		NaN											0	0	0	0.048971	0	74	95				
IRGC	56269	broad.mit.edu	37	19	44222828	44222828	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44222828G>A	uc002oxh.2	+	2	265	c.118G>A	c.(118-120)GCC>ACC	p.A40T		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	40						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CCCCCAGGCCGCCTCTCACCT	0.667		NaN											0	0	0	0.02938	0	6	116				
ZFP112	7771	broad.mit.edu	37	19	44832186	44832186	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44832186G>A	uc010ejj.2	-	5	2255	c.2142C>T	c.(2140-2142)GTC>GTT	p.V714V	ZFP112_uc002ozc.3_Silent_p.V708V|ZFP112_uc010xwy.1_Silent_p.V731V|ZFP112_uc010xwz.1_Silent_p.V713V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	714	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						CTCCAGAATGGACACTCTGAT	0.463		NaN											0	0	0	0.045705	0	32	104				
GEMIN7	79760	broad.mit.edu	37	19	45593632	45593632	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:45593632G>A	uc002pap.1	+	3	411	c.260G>A	c.(259-261)CGT>CAT	p.R87H	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87H|GEMIN7_uc002par.1_Missense_Mutation_p.R87H	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	87					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GAGGGTGTGCGTGTGGCCGCC	0.642		NaN											0	0	0	0.0333	0	17	59				
SAE1	10055	broad.mit.edu	37	19	47646784	47646784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:47646784G>A	uc002pgc.2	+	2	188	c.132G>A	c.(130-132)TTG>TTA	p.L44L	SAE1_uc002pgd.2_Silent_p.L44L|SAE1_uc010ekx.2_Silent_p.L44L|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	44					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTGTCGGCTTGAAAGGACTTG	0.488		NaN											0	0	0	0.024245	0	15	92				
GRIN2D	2906	broad.mit.edu	37	19	48919345	48919345	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:48919345C>T	uc002pjc.3	+	7	1756	c.1668C>T	c.(1666-1668)TTC>TTT	p.F556F		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	556	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGTCCCCTTCGTGGAGACCG	0.667		NaN											0	0	0	0.0333	0	17	93				
NR1H2	7376	broad.mit.edu	37	19	50881790	50881790	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:50881790G>A	uc010enw.2	+	6	760	c.484G>A	c.(484-486)GAA>AAA	p.E162K	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E162K|NR1H2_uc002psa.3_Missense_Mutation_p.E65K	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	162					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGTCCTTTCTGAAGAACAGAT	0.647		NaN											0	0	0	0.062417	0	21	98				
CD33	945	broad.mit.edu	37	19	51742831	51742831	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:51742831C>T	uc002pwa.2	+	7	1023	c.983C>T	c.(982-984)GCC>GTC	p.A328V	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.A201V|CD33_uc010eou.1_RNA	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	328	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTTCAGGTGCCGCCCCTACT	0.517		NaN											0	0	0	0.09319	0	11	31				
ZNF468	90333	broad.mit.edu	37	19	53344325	53344325	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:53344325C>T	uc002qaf.2	-	4	1373	c.1222G>A	c.(1222-1224)GAG>AAG	p.E408K	ZNF468_uc002qae.2_Missense_Mutation_p.E355K	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		TAAGGTTTCTCTCCACTATGA	0.388		NaN											0	0	0	0.034045	0	29	110				
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:54314478C>A	uc002qch.3	-	3	655	c.435G>T	c.(433-435)GCG>GCT	p.A145A	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A145A|NLRP12_uc002qcj.3_Silent_p.A145A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A145A	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567		NaN											1	0	3.69857e-22	0.037714	4.15455e-22	26	138				
NLRP7	199713	broad.mit.edu	37	19	55451478	55451478	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:55451478C>T	uc002qih.3	-	4	785	c.709G>A	c.(709-711)GAC>AAC	p.D237N	NLRP7_uc002qig.3_Missense_Mutation_p.D237N|NLRP7_uc002qii.3_Missense_Mutation_p.D237N|NLRP7_uc010esk.2_Missense_Mutation_p.D237N|NLRP7_uc010esl.2_Missense_Mutation_p.D265N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	237	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGAATGTCATCCTGCAAT	0.557		NaN											0	0	0	0.069456	0	35	127				
ZNF548	147694	broad.mit.edu	37	19	57910071	57910071	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:57910071C>T	uc002qom.2	+	3	666	c.416C>T	c.(415-417)TCA>TTA	p.S139L	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S142L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATACCTTCATTTGGGAAG	0.478		NaN											0	0	0	0.062417	0	22	99				
MYT1L	23040	broad.mit.edu	37	2	1983318	1983319	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:1983318_1983319CC>AT	uc002qxe.2	-	7	890_891	c.63_64GG>AT	c.(61-66)GTGGAA>GTATAA	p.E22*	MYT1L_uc002qxd.2_Nonsense_Mutation_p.E22*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	22					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGCTGGTTCCACGGGAACTG	0.45		NaN											0	0	0	0.004672	0	18	43				
CD207	50489	broad.mit.edu	37	2	71060168	71060168	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:71060168C>T	uc002shg.2	-	4	627	c.580G>A	c.(580-582)GTG>ATG	p.V194M		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	194	Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TGAGAAACCACCTGTAGAATA	0.453		NaN											0	0	0	0.099896	0	27	18				
DCTN1	1639	broad.mit.edu	37	2	74598210	74598210	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74598210C>T	uc002skx.2	-	9	1050	c.739G>A	c.(739-741)GAG>AAG	p.E247K	DCTN1_uc002skv.2_Missense_Mutation_p.E113K|DCTN1_uc002sku.2_Missense_Mutation_p.E113K|DCTN1_uc002skw.1_Missense_Mutation_p.E223K|DCTN1_uc010ffd.2_Missense_Mutation_p.E227K|DCTN1_uc002sky.2_Missense_Mutation_p.E210K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	247	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TTCTCCAGCTCTTTTAGCTTT	0.562		NaN											0	0	0	0.105934	0	14	397				
AUP1	550	broad.mit.edu	37	2	74756363	74756363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74756363G>A	uc010yry.1	-	3	453	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Nonsense_Mutation_p.Q79*|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Nonsense_Mutation_p.Q136*|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;	79	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						GAGTCCTCCTGCCGGGCCACG	0.587		NaN											0	0	0	0.038147	0	8	26				
HTRA2	27429	broad.mit.edu	37	2	74757942	74757942	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74757942G>C	uc002smi.1	+	2	1307	c.705G>C	c.(703-705)CAG>CAC	p.Q235H	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.Q235H|HTRA2_uc002smk.1_Missense_Mutation_p.Q235H|HTRA2_uc002sml.1_Missense_Mutation_p.Q235H|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	235	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGAGGATTCAGACTAAGGTGG	0.572		NaN											0	0	0	0.092188	0	43	123				
FER1L5	90342	broad.mit.edu	37	2	97368447	97368447	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:97368447C>T	uc010fia.2	+	47	5474	c.5474C>T	c.(5473-5475)GCG>GTG	p.A1825V	FER1L5_uc002sws.3_Missense_Mutation_p.A534V|FER1L5_uc002swt.3_Missense_Mutation_p.A534V|FER1L5_uc010yus.1_Missense_Mutation_p.A533V	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1825	C2 6.					integral to membrane				ovary(1)	1						GACTACCTGGCGGCGGAGCGC	0.612		NaN											0	0	0	0.038147	0	8	23				
C2orf55	343990	broad.mit.edu	37	2	99463239	99463239	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:99463239T>C	uc002szf.1	-	2	319	c.25A>G	c.(25-27)ATT>GTT	p.I9V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	9											0						CGAAGCTTAATGTCCATCACC	0.502		NaN											0	0	0	0.048971	0	57	65				
IL1F10	84639	broad.mit.edu	37	2	113832410	113832410	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:113832410C>A	uc002tiu.2	+	4	304	c.229C>A	c.(229-231)CCT>ACT	p.P77T	IL1F10_uc002tiv.2_Missense_Mutation_p.P77T|IL1F10_uc002tiw.2_Missense_Mutation_p.P69T	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	77						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						AGAAGAGGGGCCTTCCCTACA	0.602		NaN											1	0	2.27111e-07	0.09319	2.38758e-07	13	41				
NCKAP5	344148	broad.mit.edu	37	2	133542251	133542251	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:133542251C>A	uc002ttp.2	-	14	2507	c.2133G>T	c.(2131-2133)GAG>GAT	p.E711D	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	711							protein binding				0						GAGGTAAAAGCTCAGTATGTT	0.433		NaN											1	0	1.16021e-09	0.034045	1.24634e-09	30	111				
GRB14	2888	broad.mit.edu	37	2	165350941	165350941	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:165350941T>C	uc002ucl.2	-	13	2017	c.1476A>G	c.(1474-1476)CCA>CCG	p.P492P	GRB14_uc010zcv.1_Silent_p.P405P|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	492	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						AATTACTTACTGGTATAATTT	0.323		NaN											0	0	0	0.059317	0	33	38				
SCN9A	6335	broad.mit.edu	37	2	167108339	167108339	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:167108339T>C	uc010fpl.2	-	18	3716	c.3375A>G	c.(3373-3375)GGA>GGG	p.G1125G	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1136						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTCTCCTTCTCCAGGCAAAG	0.458		NaN											0	0	0	0.09319	0	11	46				
TTN	7273	broad.mit.edu	37	2	179425858	179425858	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179425858T>C	uc010zfg.1	-	275	77521	c.77297A>G	c.(77296-77298)GAC>GGC	p.D25766G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19461G|TTN_uc010zfi.1_Missense_Mutation_p.D19394G|TTN_uc010zfj.1_Missense_Mutation_p.D19269G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26693							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTAACTGAGTCAGCAGCATT	0.383		NaN											0	0	0	0.045705	0	31	127				
TTN	7273	broad.mit.edu	37	2	179634499	179634499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179634499G>A	uc010zfg.1	-	37	9033	c.8809C>T	c.(8809-8811)CAG>TAG	p.Q2937*	TTN_uc010zfh.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q2891*|TTN_uc002unb.2_Nonsense_Mutation_p.Q2937*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2937							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCAGCTGATGGAGTTTT	0.473		NaN											0	0	0	0.048971	0	50	182				
INO80D	54891	broad.mit.edu	37	2	206872144	206872144	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:206872144C>T	uc002vaz.3	-	10	2187	c.1782G>A	c.(1780-1782)CTG>CTA	p.L594L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	594					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CATCAGCACTCAGCTCTGGCG	0.498		NaN											0	0	0	0.058154	0	8	165				
ZDBF2	57683	broad.mit.edu	37	2	207170653	207170653	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207170653G>A	uc002vbp.2	+	5	1651	c.1401G>A	c.(1399-1401)ATG>ATA	p.M467I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	467							nucleic acid binding|zinc ion binding			ovary(3)	3						AATCCCAAATGATTGTTAAAG	0.323		NaN											0	0	0	0.069234	0	11	19				
FASTKD2	22868	broad.mit.edu	37	2	207636741	207636741	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207636741G>T	uc002vbu.2	+	5	1524	c.1114G>T	c.(1114-1116)GAT>TAT	p.D372Y	FASTKD2_uc002vbv.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbx.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbw.1_Missense_Mutation_p.D372Y	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	372					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GGTGGTCCTAGGTAAGAGGAA	0.333		NaN											1	0	0.000157383	0.038147	0.000162673	8	141				
CHRND	1144	broad.mit.edu	37	2	233391291	233391291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:233391291G>C	uc002vsw.2	+	2	109	c.105G>C	c.(103-105)GAG>GAC	p.E35D	CHRND_uc010zmg.1_Missense_Mutation_p.E35D|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	35	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGTTTCAAGAGAAGGGCTACA	0.632		NaN											0	0	0	0.021553	0	6	43				
TRPM8	79054	broad.mit.edu	37	2	234878872	234878872	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:234878872G>A	uc002vvh.2	+	17	2197	c.2157G>A	c.(2155-2157)AAG>AAA	p.K719K	TRPM8_uc010fyj.2_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	719	Extracellular (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGTCGACAAGCACAAGAAGC	0.532		NaN											0	0	0	0.02938	0	6	95				
XRN2	22803	broad.mit.edu	37	20	21309203	21309203	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:21309203C>T	uc002wsf.1	+	4	417	c.322C>T	c.(322-324)CGT>TGT	p.R108C	XRN2_uc002wsg.1_Missense_Mutation_p.R32C|XRN2_uc010zsk.1_Missense_Mutation_p.R54C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	108					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TCAGGCACCACGTGCTAAAAT	0.388		NaN											0	0	0	0.038147	0	8	27				
SERINC3	10955	broad.mit.edu	37	20	43138622	43138622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:43138622G>A	uc002xme.2	-	5	657	c.523C>T	c.(523-525)CAG>TAG	p.Q175*	SERINC3_uc002xmf.1_Nonsense_Mutation_p.Q175*|SERINC3_uc010ggs.1_Nonsense_Mutation_p.Q168*|SERINC3_uc010zwp.1_Nonsense_Mutation_p.Q120*	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	175	Helical; (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGCACCAGCTGAATGAGGATG	0.433		NaN											0	0	0	0.020292	0	15	664				
CD40	958	broad.mit.edu	37	20	44756829	44756829	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:44756829C>A	uc002xrg.1	+	7	689	c.612C>A	c.(610-612)ATC>ATA	p.I204I	CD40_uc002xrh.1_Missense_Mutation_p.P184T|CD40_uc002xri.1_Missense_Mutation_p.P218T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	204	Helical; (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCTTCGGGATCCTGTTTGCCA	0.572		NaN							Immune_Deficiency_with_Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	9.16793e-09	0.0333	9.72117e-09	17	85				
COL20A1	57642	broad.mit.edu	37	20	61943386	61943386	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:61943386C>T	uc011aau.1	+	14	1882	c.1782C>T	c.(1780-1782)AGC>AGT	p.S594S	COL20A1_uc011aav.1_Silent_p.S415S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	594	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					ATGTGTCCAGCGAGGGTGGAC	0.677		NaN											0	0	0	0.069234	0	11	28				
GABPA	2551	broad.mit.edu	37	21	27141436	27141436	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:27141436G>A	uc002ylx.3	+	10	1785	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K	GABPA_uc002yly.3_Missense_Mutation_p.E420K	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	420					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						TTTGGTCACAGAATGTGAACA	0.448		NaN											0	0	0	0.086207	0	38	102				
C2CD2	25966	broad.mit.edu	37	21	43321769	43321769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:43321769G>A	uc002yzw.2	-	12	1764	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	C2CD2_uc002yzs.2_Translation_Start_Site|C2CD2_uc002yzt.2_Missense_Mutation_p.R124W|C2CD2_uc002yzu.2_Missense_Mutation_p.R340W|C2CD2_uc002yzv.2_Missense_Mutation_p.R353W|C2CD2_uc002yzx.1_Missense_Mutation_p.R353W	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	508						cytosol|extracellular region|nucleus				ovary(1)	1						CTTTTCTTCCGTGGCGACTTG	0.498		NaN											0	0	0	0.0918	0	22	56				
OSM	5008	broad.mit.edu	37	22	30659956	30659956	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:30659956G>A	uc003ahb.2	-	3	727	c.675C>T	c.(673-675)CAC>CAT	p.H225H		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	225					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TCAGGGCCTGGTGGGGGCTGT	0.657		NaN											0	0	0	0.038147	0	7	216				
C22orf24	25775	broad.mit.edu	37	22	32330184	32330184	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:32330184G>A	uc003aly.2	-	3	570	c.403C>T	c.(403-405)CTG>TTG	p.L135L	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	135						integral to membrane				central_nervous_system(1)	1						GGCTCCCTCAGGGCCTGGTGG	0.373		NaN											0	0	0	0.038395	0	17	4				
GRM7	2917	broad.mit.edu	37	3	6903549	6903549	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:6903549G>A	uc003bqm.2	+	1	748	c.474G>A	c.(472-474)GGG>GGA	p.G158G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G158G|GRM7_uc003bql.2_Silent_p.G158G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	158	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGCTTCGGGGAGTTCGGTCT	0.612		NaN											0	0	0	0.038395	0	17	82				
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:25637964C>G	uc011awl.1	+	8	1291	c.1225C>G	c.(1225-1227)CTC>GTC	p.L409V	RARB_uc003cdi.1_Missense_Mutation_p.L290V|RARB_uc003cdh.2_Missense_Mutation_p.L402V	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	409	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433		NaN											0	0	0	0.11126	0	41	137				
ZCWPW2	152098	broad.mit.edu	37	3	28562491	28562491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:28562491G>A	uc003ceh.2	+	9	961	c.793G>A	c.(793-795)GAG>AAG	p.E265K	ZCWPW2_uc003cei.2_Missense_Mutation_p.E265K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E70K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	265							zinc ion binding			ovary(2)	2						AGTTGTCTGTGAGACGGAAGT	0.373		NaN											0	0	0	0.080935	0	12	40				
ZNF445	353274	broad.mit.edu	37	3	44491019	44491019	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44491019A>G	uc003cnf.2	-	7	1265	c.917T>C	c.(916-918)GTT>GCT	p.V306A	ZNF445_uc011azv.1_Missense_Mutation_p.V294A|ZNF445_uc011azw.1_Missense_Mutation_p.V306A	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGAGCAGCAACTGGATTCCC	0.522		NaN											0	0	0	0.030593	0	29	41				
ZNF660	285349	broad.mit.edu	37	3	44636003	44636003	+	Nonsense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44636003T>G	uc003cnl.1	+	3	651	c.318T>G	c.(316-318)TAT>TAG	p.Y106*		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	106	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAAGCCCTATACATGCAGTG	0.443		NaN											0	0	0	0.009096	0	4	110				
PROS1	5627	broad.mit.edu	37	3	93611935	93611935	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:93611935C>T	uc003drb.3	-	10	1338	c.997G>A	c.(997-999)GAT>AAT	p.D333N	PROS1_uc010hoo.2_Missense_Mutation_p.D202N|PROS1_uc003dqz.3_Missense_Mutation_p.D202N	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	333	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTTCTGAATCATATGTCCGG	0.383		NaN											0	0	0	0.014758	0	5	34				
ZIC1	7545	broad.mit.edu	37	3	147128662	147128662	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:147128662C>A	uc003ewe.2	+	1	1482	c.763C>A	c.(763-765)CAC>AAC	p.H255N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	255	C2H2-type 1; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTAGTTACGCACGTCACCGT	0.557		NaN											1	0	1.08241e-25	0.048971	1.23274e-25	67	107				
SHOX2	6474	broad.mit.edu	37	3	157815938	157815938	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:157815938C>T	uc003fbr.2	-	5	1013	c.874G>A	c.(874-876)GAT>AAT	p.D292N	SHOX2_uc003fbs.2_Missense_Mutation_p.D316N|SHOX2_uc010hvw.2_Missense_Mutation_p.D280N	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	292					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAAGCCGAATCCGCGGCCAGC	0.672		NaN											0	0	0	0.048971	0	70	428				
ATP13A4	84239	broad.mit.edu	37	3	193166040	193166040	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:193166040A>C	uc003ftd.2	-	18	2215	c.2107T>G	c.(2107-2109)TTG>GTG	p.L703V	ATP13A4_uc003fte.1_Missense_Mutation_p.L703V|ATP13A4_uc011bsr.1_Missense_Mutation_p.L174V|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	703	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTCTTCCAAGACAGGTTTT	0.398		NaN											0	0	0	0.0333	0	15	72				
GRXCR1	389207	broad.mit.edu	37	4	42895368	42895368	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:42895368C>T	uc003gwt.2	+	1	85	c.85C>T	c.(85-87)CTG>TTG	p.L29L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	29					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TGGGCGAGTTCTGAAGGAAGT	0.522		NaN											0	0	0	0.059317	0	37	74				
WDFY3	23001	broad.mit.edu	37	4	85634393	85634393	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:85634393C>T	uc003hpd.2	-	51	8370	c.7962_splice	c.e51-1	p.R2654_splice	WDFY3_uc003hpe.1_Splice_Site_p.R265_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCCAAAAACCTGAAAAATTT	0.423		NaN											0	0	0	0.034045	0	30	99				
FAT4	79633	broad.mit.edu	37	4	126370861	126370861	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:126370861C>G	uc003ifj.3	+	9	8690	c.8690C>G	c.(8689-8691)ACA>AGA	p.T2897R	FAT4_uc011cgp.1_Missense_Mutation_p.T1195R|FAT4_uc003ifi.1_Missense_Mutation_p.T375R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2897	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTATTTGCAACAGATCCTGAT	0.363		NaN											0	0	0	0.014758	0	5	89				
DCLK2	166614	broad.mit.edu	37	4	151168844	151168844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:151168844C>T	uc003ilm.3	+	13	1968	c.1868C>T	c.(1867-1869)TCT>TTT	p.S623F	DCLK2_uc003iln.3_Missense_Mutation_p.S622F|DCLK2_uc003ilo.3_Missense_Mutation_p.S640F|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	623	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					ATCACGGACTCTGCCAAGGTA	0.542		NaN											0	0	0	0.058154	0	9	14				
PRSS48	345062	broad.mit.edu	37	4	152203350	152203350	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:152203350G>A	uc011cif.1	+	3	266	c.266G>A	c.(265-267)GGT>GAT	p.G89D	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						ATTACAGTAGGTGACTCAAGG	0.478		NaN											0	0	0	0.105934	0	13	168				
SC4MOL	6307	broad.mit.edu	37	4	166254772	166254772	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166254772C>G	uc003ire.2	+	2	380	c.250C>G	c.(250-252)CAA>GAA	p.Q84E	SC4MOL_uc010irb.2_Missense_Mutation_p.Q84E|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	84					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	ATACAAAATTCAAAAGGTGAG	0.279		NaN											0	0	0	0.038147	0	8	11				
SC4MOL	6307	broad.mit.edu	37	4	166263045	166263045	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166263045C>A	uc003ire.2	+	6	959	c.829C>A	c.(829-831)CAG>AAG	p.Q277K	SC4MOL_uc003irf.2_Missense_Mutation_p.Q146K	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	277					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	AACAGACTCTCAGTATAATGC	0.363		NaN											1	0	6.31663e-08	0.024245	6.66906e-08	15	17				
KIAA1430	57587	broad.mit.edu	37	4	186112120	186112120	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:186112120T>C	uc003ixf.3	-	2	378	c.231A>G	c.(229-231)CCA>CCG	p.P77P	KIAA1430_uc003ixg.2_Silent_p.P77P	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	77											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGGGGTGTTCTGGGGGAAATT	0.348		NaN											0	0	0	0.02938	0	7	13				
IL7R	3575	broad.mit.edu	37	5	35874558	35874558	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:35874558G>A	uc003jjs.2	+	6	803	c.714G>A	c.(712-714)ATG>ATA	p.M238I	IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	238	Extracellular (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAGGGGAGATGGATCCTATCT	0.448		NaN											0	0	0	0.034045	0	30	98				
NUP155	9631	broad.mit.edu	37	5	37371058	37371058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:37371058C>T	uc003jku.1	-	1	140	c.22G>A	c.(22-24)GCG>ACG	p.A8T	NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A8T	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	8					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATCGCCGCGCCCAACAAA	0.527		NaN											0	0	0	0.020292	0	15	106				
GHR	2690	broad.mit.edu	37	5	42689121	42689121	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:42689121G>T	uc003jmt.2	+	4	309	c.266G>T	c.(265-267)AGG>ATG	p.R89M	GHR_uc011cpq.1_Intron	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	89	Extracellular (Potential).		R -> K (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TATACCAGAAGGTGCCACCAT	0.453		NaN											1	0	6.49762e-13	0.038395	7.07263e-13	19	111				
ZNF608	57507	broad.mit.edu	37	5	123977030	123977030	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:123977030G>T	uc003ktq.1	-	7	4488	c.4365C>A	c.(4363-4365)TTC>TTA	p.F1455L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.F150L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1455						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCGCTGGCCGAAGGGGGAGT	0.567		NaN											1	0	1.15505e-17	0.11126	1.27992e-17	46	51				
PHF15	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:133909338A>G	uc003kzo.1	+	10	1617	c.1438A>G	c.(1438-1440)AGA>GGA	p.R480G	PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512		NaN											0	0	0	0.059317	0	36	12				
PCDHA9	9752	broad.mit.edu	37	5	140229572	140229572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:140229572C>T	uc003lhu.2	+	1	2216	c.1492C>T	c.(1492-1494)CGG>TGG	p.R498W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R498W	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	498	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.672		NaN											0	0	0	0.048971	0	72	77				
GLRA1	2741	broad.mit.edu	37	5	151202511	151202511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:151202511C>G	uc003lut.2	-	9	1384	c.1097G>C	c.(1096-1098)GGA>GCA	p.G366A	GLRA1_uc003lur.2_Missense_Mutation_p.G358A|GLRA1_uc003lus.2_Missense_Mutation_p.G275A	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	366	Cytoplasmic (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGGCCTTCTCCAGCTTCATC	0.562		NaN											0	0	0	0.080935	0	11	16				
C5orf41	153222	broad.mit.edu	37	5	172517872	172517872	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:172517872A>G	uc003mch.2	+	4	994	c.690A>G	c.(688-690)GAA>GAG	p.E230E	C5orf41_uc003mcg.2_Silent_p.E230E|C5orf41_uc003mcf.2_Silent_p.E230E|C5orf41_uc011dfd.1_Silent_p.E230E	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	230							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGTTGAATGTAAAGACT	0.413		NaN											0	0	0	0.034045	0	31	13				
SLC22A23	63027	broad.mit.edu	37	6	3273582	3273582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:3273582C>T	uc003mvm.3	-	10	1768	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	590					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ttgtgcagctcgatGATGGGT	0.478		NaN											0	0	0	0.021553	0	6	112				
C6orf106	64771	broad.mit.edu	37	6	34574587	34574587	+	Silent	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:34574587C>G	uc003ojr.2	-	4	851	c.606G>C	c.(604-606)CCG>CCC	p.P202P	C6orf106_uc003ojs.2_Silent_p.P136P	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	202										skin(2)|ovary(1)	3						CCTTACGATGCGGCTGTGTGT	0.478		NaN											0	0	0	0.009096	0	4	77				
ETV7	51513	broad.mit.edu	37	6	36334426	36334426	+	Missense_Mutation	SNP	G	G	A	rs145392208	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:36334426G>A	uc003omb.2	-	8	1171	c.1022C>T	c.(1021-1023)CCG>CTG	p.P341L	ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P286L|ETV7_uc010jwj.2_Missense_Mutation_p.P282L|ETV7_uc010jwh.2_Missense_Mutation_p.P260L|ETV7_uc010jwi.2_Missense_Mutation_p.P264L|ETV7_uc011dtl.1_Missense_Mutation_p.P190L	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	341					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TGCCCCTCACGGAGAGATTTC	0.622		NaN											0	0	0	0.069456	0	36	97				
DNAH8	1769	broad.mit.edu	37	6	38723820	38723820	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:38723820A>G	uc003ooe.1	+	8	1429	c.829A>G	c.(829-831)AAT>GAT	p.N277D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGGTATTATAATACCTCAGA	0.348		NaN											0	0	0	0.055883	0	18	44				
LAMA2	3908	broad.mit.edu	37	6	129649559	129649559	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:129649559T>C	uc003qbn.2	+	29	4416	c.4311_splice	c.e29+2	p.Q1437_splice	LAMA2_uc003qbo.2_Splice_Site_p.Q1437_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATGCCAGGTAGTCCTCTGA	0.532		NaN											0	0	0	0.014758	0	4	67				
NMBR	4829	broad.mit.edu	37	6	142409489	142409489	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:142409489G>A	uc003qiu.2	-	1	448	c.307C>T	c.(307-309)CGC>TGC	p.R103C		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	103	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGAAGTAGCGCGAGGCGTCC	0.602		NaN											0	0	0	0.048971	0	75	13				
SYNE1	23345	broad.mit.edu	37	6	152651705	152651705	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:152651705G>A	uc010kiw.2	-	78	14717	c.14115C>T	c.(14113-14115)GCC>GCT	p.A4705A	SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4705	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCTCAACGGCCAGGTCGG	0.522		NaN								HNSCC(10;0.0054)			0	0	0	0.076483	0	22	7				
EVX1	2128	broad.mit.edu	37	7	27285924	27285924	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:27285924G>A	uc003szd.1	+	3	1590	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	EVX1_uc011jzn.1_Silent_p.S186S|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	368	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						CCGCCGCCTCGGACTTCACCT	0.751		NaN											0	0	0	0.058154	0	8	5				
AVL9	23080	broad.mit.edu	37	7	32598622	32598622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:32598622G>C	uc003tcv.1	+	10	907	c.761G>C	c.(760-762)AGT>ACT	p.S254T	AVL9_uc011kai.1_Missense_Mutation_p.S254T|AVL9_uc010kwj.1_Missense_Mutation_p.S95T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	254						integral to membrane					0						CTTCAGGAAAGTAACCCATGT	0.423		NaN											0	0	0	0.0333	0	18	46				
POU6F2	11281	broad.mit.edu	37	7	39379526	39379526	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:39379526C>T	uc003thb.1	+	5	839	c.797C>T	c.(796-798)ACC>ATC	p.T266I	POU6F2_uc010kxo.2_Missense_Mutation_p.T258I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	266	Pro-rich.|Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						ccatctccaacccagcagagc	0.244		NaN											0	0	0	0.062417	0	23	45				
ABHD11	83451	broad.mit.edu	37	7	73153094	73153094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:73153094G>A	uc003tzb.2	-	1	91	c.34C>T	c.(34-36)CGC>TGC	p.R12C	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.R12C|ABHD11_uc003tzc.2_Missense_Mutation_p.R12C|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Missense_Mutation_p.R12C|ABHD11_uc011kfc.1_Missense_Mutation_p.R12C	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	12							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGTCCAGCGGAGCATGCTT	0.532		NaN											0	0	0	0.038147	0	8	26				
CALCR	799	broad.mit.edu	37	7	93055890	93055890	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:93055890G>A	uc003umv.1	-	15	1566	c.1305C>T	c.(1303-1305)ACC>ACT	p.T435T	CALCR_uc011kia.1_Silent_p.T215T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.T401T|CALCR_uc003umw.2_Silent_p.T401T	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	417	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGCGCTTCACGGTGGTTTGGA	0.522		NaN											0	0	0	0.064281	0	36	38				
DYNC1I1	1780	broad.mit.edu	37	7	95442532	95442532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:95442532G>A	uc003uoc.3	+	4	525	c.248G>A	c.(247-249)TGG>TAG	p.W83*	DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.W83*|DYNC1I1_uc010lfl.2_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	83	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTAACATGGGATACCTGT	0.458		NaN											0	0	0	0.048971	0	46	35				
PILRA	29992	broad.mit.edu	37	7	99997420	99997420	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:99997420G>A	uc003uuo.1	+	7	1014	c.802G>A	c.(802-804)GTC>ATC	p.V268I	PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Missense_Mutation_p.V195I|PILRA_uc003uuq.1_3'UTR	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	268	Cytoplasmic (Potential).|ITIM motif 1.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGGCATCGTCTATGCTTC	0.587		NaN											0	0	0	0.080422	0	40	139				
TRIM56	81844	broad.mit.edu	37	7	100731304	100731304	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:100731304G>A	uc003uxq.2	+	3	942	c.711G>A	c.(709-711)GAG>GAA	p.E237E	TRIM56_uc003uxr.2_Silent_p.E237E	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	237	Potential.				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGGGTGGAGAAGGAGGCGC	0.726		NaN											0	0	0	0.004672	0	3	9				
DLD	1738	broad.mit.edu	37	7	107546721	107546721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:107546721G>A	uc003vet.2	+	8	702	c.592G>A	c.(592-594)GAT>AAT	p.D198N	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.D150N|DLD_uc011kmh.1_Missense_Mutation_p.D175N|DLD_uc011kmi.1_Missense_Mutation_p.D99N	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	198					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GATAGATGAAGATACAATAGT	0.234		NaN											0	0	0	0.047766	0	8	25				
ZYX	7791	broad.mit.edu	37	7	143085644	143085644	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:143085644C>G	uc003wcw.2	+	7	1362	c.1207C>G	c.(1207-1209)CAG>GAG	p.Q403E	ZYX_uc011ktd.1_Missense_Mutation_p.Q246E|ZYX_uc003wcx.2_Missense_Mutation_p.Q403E|ZYX_uc011kte.1_Missense_Mutation_p.Q372E|ZYX_uc011ktf.1_Missense_Mutation_p.Q246E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	403	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CGCTCTAGGGCAGCTGTTCCA	0.642		NaN											0	0	0	0.030593	0	26	84				
SSPO	23145	broad.mit.edu	37	7	149512268	149512268	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:149512268G>A	uc010lpk.2	+	76	10588	c.10588G>A	c.(10588-10590)GGG>AGG	p.G3530R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3530					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTAGACTGCGGGGGTGGCCA	0.662		NaN											0	0	0	0.024245	0	14	42				
MYOM2	9172	broad.mit.edu	37	8	2026821	2026821	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:2026821A>C	uc003wpx.3	+	12	1407	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	423	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGATGTGAAGTAGGAACGA	0.378		NaN											0	0	0	0.050027	0	31	17				
AMAC1L2	83650	broad.mit.edu	37	8	11189370	11189370	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:11189370G>A	uc003wtp.1	+	1	876	c.755G>A	c.(754-756)AGT>AAT	p.S252N		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	252	Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		GACCTCCTGAGTTGGAGTTGT	0.632		NaN											0	0	0	0.02938	0	4	57				
PXDNL	137902	broad.mit.edu	37	8	52321799	52321799	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:52321799G>A	uc003xqu.3	-	17	2486	c.2385C>T	c.(2383-2385)CCC>CCT	p.P795P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	795					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCTGTGGTCGGGGGTGACGG	0.726		NaN											0	0	0	0.004672	0	3	3				
PREX2	80243	broad.mit.edu	37	8	69020396	69020396	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:69020396C>T	uc003xxv.1	+	24	2795	c.2768C>T	c.(2767-2769)TCT>TTT	p.S923F	PREX2_uc011lez.1_Missense_Mutation_p.S858F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	923					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGGCCAAATCTAAAATCTCC	0.403		NaN											0	0	0	0.014758	0	5	32				
PKHD1L1	93035	broad.mit.edu	37	8	110457754	110457754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:110457754G>A	uc003yne.2	+	38	5760	c.5656G>A	c.(5656-5658)GCT>ACT	p.A1886T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1886	Extracellular (Potential).|IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCGCACTCCCGCTGGGACCAC	0.433		NaN								HNSCC(38;0.096)			0	0	0	0.004672	0	3	16				
RAD21	5885	broad.mit.edu	37	8	117866640	117866640	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:117866640C>G	uc003yod.2	-	9	1293	c.1005G>C	c.(1003-1005)AAG>AAC	p.K335N		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	335	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTCTAATTGTCTTGCTATCCA	0.378		NaN											0	0	0	0.028581	0	14	57				
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:131922042C>T	uc003ytd.3	-	6	1808	c.1552G>A	c.(1552-1554)GGT>AGT	p.G518S	ADCY8_uc010mds.2_Missense_Mutation_p.G518S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	518	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAAAACACCGCACAGCACC	0.473		NaN								HNSCC(32;0.087)			0	0	0	0.048971	0	63	51				
SLC45A4	57210	broad.mit.edu	37	8	142228784	142228784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:142228784C>T	uc003ywd.1	-	4	1110	c.802G>A	c.(802-804)GAC>AAC	p.D268N	SLC45A4_uc003ywc.1_Missense_Mutation_p.D268N|SLC45A4_uc010meq.1_Missense_Mutation_p.D266N	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	319					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCAGGTCCAGCGCGGTG	0.672		NaN											0	0	0	0.086207	0	39	86				
TOP1MT	116447	broad.mit.edu	37	8	144406198	144406198	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:144406198G>A	uc003yxz.2	-	7	950	c.931C>T	c.(931-933)CGG>TGG	p.R311W	TOP1MT_uc011lkd.1_Missense_Mutation_p.R213W|TOP1MT_uc011lke.1_Missense_Mutation_p.R213W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R213W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R106W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R106W	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	311					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCACCGCCCGCTGTCTCGTC	0.582		NaN											0	0	0	0.048971	0	66	48				
SPAG8	26206	broad.mit.edu	37	9	35811307	35811307	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:35811307C>T	uc003zye.2	-	2	851	c.736G>A	c.(736-738)GAA>AAA	p.E246K	SPAG8_uc003zyf.2_Missense_Mutation_p.E163K|SPAG8_uc003zyg.2_Missense_Mutation_p.E246K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	246						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAAAAATTCCCAAGGTGGT	0.532		NaN											0	0	0	0.069234	0	10	345				
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	rs141198887	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:107531159G>A	uc004bci.2	+	3	358	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	96										pancreas(1)|skin(1)	2						TTTGCTCATCGAGCTGAAGTT	0.343		NaN											0	0	0	0.047766	0	8	20				
SVEP1	79987	broad.mit.edu	37	9	113252013	113252013	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:113252013G>C	uc010mtz.2	-	9	2184	c.1847C>G	c.(1846-1848)CCA>CGA	p.P616R	SVEP1_uc010mua.1_Missense_Mutation_p.P616R|SVEP1_uc004beu.2_Missense_Mutation_p.P616R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	616	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATCTCCAATTGGGAAAAGGTA	0.398		NaN											0	0	0	0.062417	0	21	44				
LRSAM1	90678	broad.mit.edu	37	9	130265127	130265127	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:130265127G>A	uc004brb.1	+	26	2466	c.2121G>A	c.(2119-2121)CCG>CCA	p.P707P	LRSAM1_uc010mxk.1_Silent_p.P680P|LRSAM1_uc004brc.1_Silent_p.P707P|LRSAM1_uc004brd.1_Silent_p.P707P|LRSAM1_uc004bre.1_Silent_p.P287P|LRSAM1_uc004brg.1_Silent_p.P138P	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	707	RING-type.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GCACCTGCCCGCTGTGCCGCC	0.682		NaN											0	0	0	0.058154	0	10	7				
ABO	28	broad.mit.edu	37	9	136137502	136137502	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136137502C>T	uc004cda.1	-	2	123	c.98G>A	c.(97-99)GGT>GAT	p.G33D	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	33	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGTGTCTTACCCAAACAAGAC	0.488		NaN											0	0	0	0.009096	0	4	11				
ADAMTSL2	9719	broad.mit.edu	37	9	136409600	136409600	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136409600C>T	uc011mdl.1	+	8	1248	c.691C>T	c.(691-693)CTG>TTG	p.L231L	ADAMTSL2_uc004cei.2_Silent_p.L231L	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	231					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGTTACTCTCTGGTGACCCA	0.587		NaN											0	0	0	0.045515	0	43	54				
RXRA	6256	broad.mit.edu	37	9	137321028	137321028	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:137321028G>A	uc004cfb.2	+	7	1147	c.985G>A	c.(985-987)GGG>AGG	p.G329R	RXRA_uc004cfc.1_Missense_Mutation_p.G232R	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	329	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCACCGGGCTGCACGT	0.682		NaN											0	0	0	0.030593	0	28	51		Valid		
MAMDC4	158056	broad.mit.edu	37	9	139750013	139750013	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:139750013G>A	uc004cjs.2	+	12	1463	c.1413G>A	c.(1411-1413)CCG>CCA	p.P471P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	471	Extracellular (Potential).|LDL-receptor class A 3.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTGCCCCCGGAACAACTGT	0.701		NaN											0	0	0	0.004672	0	3	10				
DHRSX	207063	broad.mit.edu	37	X	2184836	2184836	+	Missense_Mutation	SNP	C	C	T	rs149133886		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2184836C>T	uc004cqf.3	-	5	590	c.541G>A	c.(541-543)GTC>ATC	p.V181I		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547		NaN											0	0	0	0.048971	0	113	103				
DHRSX	207063	broad.mit.edu	37	X	2343295	2343295	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2343295C>A	uc004cqf.3	-	2	209	c.160G>T	c.(160-162)GGC>TGC	p.G54C		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	54	NAD or NADP (By similarity).						binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGCCAATGCCATCTGTCCCT	0.408		NaN											1	0	2.62258e-09	0.039052	2.80502e-09	44	57				
KIF4A	24137	broad.mit.edu	37	X	69626162	69626162	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:69626162C>T	uc004dyg.2	+	27	3157	c.3030C>T	c.(3028-3030)ACC>ACT	p.T1010T	KIF4A_uc010nkw.2_Silent_p.T1010T	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1010	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						CTAAGGATACCCTTCTATCTC	0.443		NaN											0	0	0	0.042209	0	41	6				
COL4A6	1288	broad.mit.edu	37	X	107433641	107433641	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:107433641T>A	uc004enw.3	-	20	1513	c.1410A>T	c.(1408-1410)CTA>CTT	p.L470L	COL4A6_uc004env.3_Silent_p.L469L|COL4A6_uc011msn.1_Silent_p.L469L|COL4A6_uc010npk.2_Silent_p.L469L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	470	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CTTTGAGGCCTAGGTTTCCTT	0.453		NaN							Alport_syndrome_with_Diffuse_Leiomyomatosis				0	0	0	0.09836	0	42	14				
PLCH2	9651	broad.mit.edu	37	1	2409941	2409941	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:2409941G>A	uc001aji.1	+	2	425	c.151G>A	c.(151-153)GAG>AAG	p.E51K	PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	51	PH.|Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGCCATGCAAGAGGGGATGCA	0.662		NaN											0	0	0	0.000308642	0	14	46				
CNR2	1269	broad.mit.edu	37	1	24201432	24201432	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:24201432G>A	uc001bif.2	-	2	803	c.676C>T	c.(676-678)CAC>TAC	p.H226Y		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	226	Cytoplasmic (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CTGTCCTGGTGGCCAGACAAG	0.567		NaN											0	0	0	0.000422831	0	15	31				
MAP7D1	55700	broad.mit.edu	37	1	36636771	36636771	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:36636771G>A	uc001bzz.2	+	2	462	c.246G>A	c.(244-246)CCG>CCA	p.P82P	MAP7D1_uc001caa.2_Silent_p.P82P|MAP7D1_uc001cab.2_Silent_p.P82P|MAP7D1_uc001cac.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	82	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CAGCCCCCCCGCAGGAAGAGT	0.647		NaN											0	0	0	0.000339439	0	33	55				
HFM1	164045	broad.mit.edu	37	1	91778984	91778984	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:91778984T>C	uc001doa.3	-	30	3413	c.3313A>G	c.(3313-3315)ACT>GCT	p.T1105A	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T784A|HFM1_uc001dob.3_Missense_Mutation_p.T293A|HFM1_uc010osv.1_Missense_Mutation_p.T789A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1105							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTGCATAGTGATTTGATTT	0.323		NaN											0	0	0	0.00111076	0	37	51				
LCE1E	353135	broad.mit.edu	37	1	152760035	152760035	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:152760035G>A	uc001fan.2	+	2	313	c.260G>A	c.(259-261)CGT>CAT	p.R87H		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	87	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGTCCCACCGTCACAGACCC	0.687		NaN											0	0	0	0.000442599	0	7	112				
FCER1A	2205	broad.mit.edu	37	1	159275915	159275915	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:159275915G>A	uc001ftq.2	+	5	568	c.469G>A	c.(469-471)GAG>AAG	p.E157K		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	157	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTACTGGTATGAGAACCACAA	0.502		NaN											0	0	0	0.000274275	0	8	39				
RC3H1	149041	broad.mit.edu	37	1	173907942	173907942	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:173907942G>C	uc001gju.3	-	19	3406	c.3319C>G	c.(3319-3321)CTG>GTG	p.L1107V	RC3H1_uc010pms.1_Missense_Mutation_p.L1098V|RC3H1_uc001gjv.2_Missense_Mutation_p.L1099V|RC3H1_uc010pmt.1_Missense_Mutation_p.L1108V	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	1107					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GACAGGTTCAGAGAGCTGGTC	0.443		NaN											0	0	0	0.000279167	0	31	65				
NUAK2	81788	broad.mit.edu	37	1	205273537	205273537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:205273537G>A	uc001hce.2	-	7	1055	c.928C>T	c.(928-930)CGA>TGA	p.R310*		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	310					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCTCCCACTCGGGTGGCGTAG	0.692		NaN											0	0	0	0.000602214	0	5	18				
CABC1	56997	broad.mit.edu	37	1	227153387	227153388	+	Missense_Mutation	DNP	CG	CG	AT	rs145350362		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:227153387_227153388CG>AT	uc001hqm.1	+	9	4023_4024	c.604_605CG>AT	c.(604-606)CGG>ATG	p.R202M	CABC1_uc001hqn.1_Missense_Mutation_p.R202M|CABC1_uc009xeq.1_Missense_Mutation_p.R150M|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_Translation_Start_Site	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	202					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CGAGCATGCCCGGGAGCGGAAG	0.639		NaN											0	0	0	6.4e-05	0	6	65				
OBSCN	84033	broad.mit.edu	37	1	228433250	228433250	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:228433250G>A	uc009xez.1	+	12	3662	c.3618G>A	c.(3616-3618)CTG>CTA	p.L1206L	OBSCN_uc001hsn.2_Silent_p.L1206L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1206	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGAAGAAGCTGAGCTCCAGCT	0.602		NaN											0	0	0	0.000953801	0	36	77				
PGBD5	79605	broad.mit.edu	37	1	230492669	230492669	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:230492669C>T	uc010pwb.1	-	2	523	c.523G>A	c.(523-525)GAC>AAC	p.D175N	PGBD5_uc001htv.2_Missense_Mutation_p.D274N	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	175						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AAGGCAGAGTCGAAGCTGTTC	0.612		NaN											0	0	0	0.000157383	0	6	102				
KIAA1217	56243	broad.mit.edu	37	10	24762637	24762637	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:24762637G>A	uc001iru.3	+	6	1730	c.1327G>A	c.(1327-1329)GAA>AAA	p.E443K	KIAA1217_uc001irs.2_Missense_Mutation_p.E363K|KIAA1217_uc001irt.3_Missense_Mutation_p.E443K|KIAA1217_uc010qcy.1_Missense_Mutation_p.E443K|KIAA1217_uc010qcz.1_Missense_Mutation_p.E443K|KIAA1217_uc001irv.1_Missense_Mutation_p.E293K|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.E161K|KIAA1217_uc001irz.2_Missense_Mutation_p.E161K|KIAA1217_uc001irx.2_Missense_Mutation_p.E161K|KIAA1217_uc001iry.2_Missense_Mutation_p.E161K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	443					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AATGCAAGCGGAAATGCATAT	0.517		NaN											0	0	0	0.00106085	0	28	40				
PARD3	56288	broad.mit.edu	37	10	34648183	34648183	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:34648183C>G	uc010qej.1	-	14	1959	c.1959G>C	c.(1957-1959)AAG>AAC	p.K653N	PARD3_uc010qek.1_Missense_Mutation_p.K653N|PARD3_uc010qel.1_Missense_Mutation_p.K653N|PARD3_uc010qem.1_Missense_Mutation_p.K640N|PARD3_uc010qen.1_Missense_Mutation_p.K640N|PARD3_uc010qeo.1_Missense_Mutation_p.K640N|PARD3_uc010qep.1_Missense_Mutation_p.K596N|PARD3_uc010qeq.1_Missense_Mutation_p.K596N|PARD3_uc001ixo.1_Missense_Mutation_p.K370N|PARD3_uc001ixp.1_Missense_Mutation_p.K518N|PARD3_uc001ixq.1_Missense_Mutation_p.K640N|PARD3_uc001ixr.1_Missense_Mutation_p.K653N|PARD3_uc001ixt.1_Missense_Mutation_p.K474N|PARD3_uc001ixu.1_Missense_Mutation_p.K596N|PARD3_uc001ixs.1_Missense_Mutation_p.K306N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	653	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CTTGGTTTGTCTTGCCCAACA	0.413		NaN											0	0	0	0.000781405	0	43	85				
HIF1AN	55662	broad.mit.edu	37	10	102296389	102296389	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:102296389G>A	uc001krj.3	+	2	474	c.399G>A	c.(397-399)CAG>CAA	p.Q133Q		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	133	Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGAAACTGCAGGATATACAGC	0.398		NaN											0	0	0	0.000374591	0	39	119				
PSTK	118672	broad.mit.edu	37	10	124740004	124740004	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:124740004C>T	uc001lgy.1	+	1	449	c.9C>T	c.(7-9)ACC>ACT	p.T3T		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	3							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GCATGAAGACCGCCGAGAACA	0.701		NaN									OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978159	0	10	13				
FAM175B	23172	broad.mit.edu	37	10	126523363	126523363	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:126523363C>T	uc001lib.3	+	9	1116	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	357						BRISC complex	polyubiquitin binding				0						GTGGGGCTGACCTTCCTCCTC	0.493		NaN											0	0	0	0.000157383	0	8	23				
FJX1	24147	broad.mit.edu	37	11	35640997	35640997	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:35640997C>T	uc001mwh.2	+	1	1263	c.813C>T	c.(811-813)GCC>GCT	p.A271A		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	271						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCGGGATGCCGGGGGTGAGC	0.677		NaN											0	0	0	0.00024832	0	4	33				
OR5R1	219479	broad.mit.edu	37	11	56185064	56185064	+	Silent	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:56185064G>T	uc010rji.1	-	1	645	c.645C>A	c.(643-645)CTC>CTA	p.L215L		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTAGGAGGTGAGGACAATGG	0.468		NaN											1	0	2.70639e-06	0.000295444	2.5161e-05	22	40				
TNKS1BP1	85456	broad.mit.edu	37	11	57077076	57077076	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:57077076C>G	uc001njr.2	-	5	3421	c.3109G>C	c.(3109-3111)GAT>CAT	p.D1037H	TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1037H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D488H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1037	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				AGTGCCCCATCCGGCACGTGG	0.637		NaN											0	0	0	0.000781405	0	45	106				
SPTBN2	6712	broad.mit.edu	37	11	66468734	66468734	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:66468734G>T	uc001ojd.2	-	16	2908	c.2836C>A	c.(2836-2838)CTG>ATG	p.L946M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	946	Spectrin 6.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCGTCTGCCAGACGCCGAAAC	0.582		NaN											1	0	5.35267e-07	0.000958276	5.09574e-06	19	43				
MOGAT2	80168	broad.mit.edu	37	11	75438555	75438555	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:75438555G>A	uc010rru.1	+	3	346	c.346G>A	c.(346-348)GGA>AGA	p.G116R	MOGAT2_uc001oww.1_Missense_Mutation_p.G116R|MOGAT2_uc010rrv.1_Missense_Mutation_p.G34R	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	116	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					CCTGGCAGTCGGAGCCTTTGC	0.602		NaN											0	0	0	0.000566183	0	16	176				
INTS4	92105	broad.mit.edu	37	11	77605369	77605369	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:77605369T>G	uc001oys.2	-	19	2283	c.2255A>C	c.(2254-2256)GAA>GCA	p.E752A	C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	752					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TAAAAATTTTTCACACATCCC	0.353		NaN											0	0	0	0.000958276	0	19	25				
C11orf53	341032	broad.mit.edu	37	11	111156561	111156561	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:111156561C>T	uc001plc.2	+	4	640	c.493C>T	c.(493-495)CAT>TAT	p.H165Y		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	hypothetical protein LOC341032	165											0		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATACTCGCTGCATGCTCTGGA	0.617		NaN											0	0	0	0.000409698	0	33	66				
GYS2	2998	broad.mit.edu	37	12	21757466	21757466	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:21757466C>G	uc001rfb.2	-	1	316	c.61G>C	c.(61-63)GAA>CAA	p.E21Q		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	21					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GGAAGTTCTTCGACTTCCCAC	0.493		NaN											0	0	0	0.000184323	0	29	54				
ADAMTS20	80070	broad.mit.edu	37	12	43771260	43771260	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43771260G>C	uc010skx.1	-	32	4903	c.4903C>G	c.(4903-4905)CAA>GAA	p.Q1635E		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1635	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCATTCTTGATAAACTATA	0.428		NaN											0	0	0	0.000978159	0	12	23				
ADAMTS20	80070	broad.mit.edu	37	12	43886428	43886428	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43886428C>A	uc010skx.1	-	6	956	c.956G>T	c.(955-957)GGA>GTA	p.G319V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	319	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGACTGGTCCTTCCTATGC	0.363		NaN											1	0	4.68919e-08	0.000673444	4.50011e-07	9	42				
PPFIA2	8499	broad.mit.edu	37	12	81688723	81688723	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:81688723A>G	uc001szo.1	-	24	2977	c.2816T>C	c.(2815-2817)ATC>ACC	p.I939T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	865										ovary(3)|lung(2)|pancreas(1)	6						TTCTCTCTGGATCTCAGTGTC	0.488		NaN											0	0	0	0.00024832	0	4	22				
PLEKHG7	440107	broad.mit.edu	37	12	93149620	93149620	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:93149620G>A	uc001tcj.2	+	7	740	c.510G>A	c.(508-510)GTG>GTA	p.V170V		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	170	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						AAGGAAAAGTGAAGTGGCTGG	0.383		NaN											0	0	0	0.00106085	0	27	65				
CCDC63	160762	broad.mit.edu	37	12	111319049	111319049	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:111319049G>A	uc001trv.1	+	7	997	c.802G>A	c.(802-804)GTC>ATC	p.V268I	CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.V228I|CCDC63_uc001trw.1_Missense_Mutation_p.V183I	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	268	Potential.									skin(6)|ovary(1)|pancreas(1)	8						CTTCCTGCTCGTCAAGCTGAA	0.498		NaN											0	0	0	0.000978159	0	12	28				
SNX6	58533	broad.mit.edu	37	14	35036931	35036931	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:35036931A>T	uc001wsf.1	-	13	1172	c.1164T>A	c.(1162-1164)AAT>AAA	p.N388K	SNX6_uc001wse.1_Missense_Mutation_p.N260K|SNX6_uc010tpm.1_Missense_Mutation_p.N264K	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	376					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GTTCCACTAAATTTTTTCTGA	0.269		NaN											0	0	0	0.000295444	0	21	46				
MTHFD1	4522	broad.mit.edu	37	14	64921557	64921557	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:64921557C>T	uc001xhb.2	+	26	3069	c.2682C>T	c.(2680-2682)AGC>AGT	p.S894S	MTHFD1_uc010aqf.2_Silent_p.S950S|ZBTB25_uc001xhc.2_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	894	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCCGCGCCAGCGTTGGGGCTG	0.532		NaN											0	0	0	0.000319135	0	37	93				
KIF26A	26153	broad.mit.edu	37	14	104641739	104641739	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:104641739G>A	uc001yos.3	+	12	2614	c.2614G>A	c.(2614-2616)GCC>ACC	p.A872T		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	872					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCAGCCCCGCCCGAGGGGG	0.711		NaN											0	0	0	0.000978159	0	10	16				
LRRC49	54839	broad.mit.edu	37	15	71302329	71302329	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:71302329G>C	uc002asw.2	+	13	1838	c.1591G>C	c.(1591-1593)GAG>CAG	p.E531Q	LRRC49_uc002asu.2_Missense_Mutation_p.E521Q|LRRC49_uc002asx.2_Missense_Mutation_p.E487Q|LRRC49_uc010ukf.1_Missense_Mutation_p.E536Q|LRRC49_uc002asy.2_Missense_Mutation_p.E237Q|LRRC49_uc002asz.2_Missense_Mutation_p.E503Q	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	531						cytoplasm|microtubule				ovary(1)	1						AAATGGAACAGAGGTAAGCTA	0.299		NaN											0	0	0	0.000132079	0	19	39				
MAN2C1	4123	broad.mit.edu	37	15	75651976	75651976	+	Missense_Mutation	SNP	C	C	A	rs147452674		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:75651976C>A	uc002baf.2	-	16	1950	c.1933G>T	c.(1933-1935)GGG>TGG	p.G645W	MAN2C1_uc002bag.2_Missense_Mutation_p.G645W|MAN2C1_uc002bah.2_Missense_Mutation_p.G645W|MAN2C1_uc010bkk.2_Missense_Mutation_p.G546W|MAN2C1_uc010umi.1_Missense_Mutation_p.G427W	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	645					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CTGTGGGCCCCGCCCGGTTTG	0.647		NaN											1	0	2.94398e-08	0.000958276	2.84824e-07	16	36				
MYLK3	91807	broad.mit.edu	37	16	46766260	46766260	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:46766260C>A	uc002eei.3	-	4	1438	c.1322G>T	c.(1321-1323)GGG>GTG	p.G441V	MYLK3_uc010vge.1_Missense_Mutation_p.G100V|MYLK3_uc002eej.1_Missense_Mutation_p.G100V	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	441					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCCCAGGGCCCCAACCTCGTG	0.662		NaN											1	0	1.67305e-13	0.000228196	1.68723e-12	38	102				
BANP	54971	broad.mit.edu	37	16	88098939	88098939	+	Splice_Site	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88098939G>T	uc002fkr.2	+	12	1565	c.1341_splice	c.e12+1	p.Q447_splice	BANP_uc002fkp.2_Splice_Site_p.Q420_splice|BANP_uc002fkq.2_Intron|BANP_uc010vow.1_Intron|BANP_uc002fks.3_Intron	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		cagtggccaggtgagtccttt	0		NaN											1	0	2.23348e-06	0.000422831	2.09279e-05	15	35				
SNAI3	333929	broad.mit.edu	37	16	88745035	88745035	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88745035C>T	uc002flj.2	-	3	768	c.700G>A	c.(700-702)GAG>AAG	p.E234K	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	234					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		TAGGGCTTCTCCCCTGTGGGA	0.612		NaN											0	0	0	0.000219431	0	15	23				
GALNS	2588	broad.mit.edu	37	16	88893122	88893122	+	Missense_Mutation	SNP	C	C	T	rs150734270	byFrequency	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88893122C>T	uc002fly.3	-	10	1216	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	GALNS_uc010cid.2_Missense_Mutation_p.R382Q|GALNS_uc002flz.3_Missense_Mutation_p.R59Q	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	376			R -> Q (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTCCATCAGCCGGCCCTGCAG	0.662		NaN											0	0	0	0.000586117	0	21	20				
MYBBP1A	10514	broad.mit.edu	37	17	4445105	4445105	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:4445105C>A	uc002fyb.3	-	23	3231	c.3169G>T	c.(3169-3171)GGC>TGC	p.G1057C	MYBBP1A_uc002fxz.3_Missense_Mutation_p.G1057C|MYBBP1A_uc002fya.3_Missense_Mutation_p.G2C|MYBBP1A_uc010vsa.1_Missense_Mutation_p.G99C	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1057					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						AGGACCTGGCCCATCAGCTGC	0.627		NaN											1	0	1.99505e-19	0.000409698	2.02916e-18	30	96				
NCOR1	9611	broad.mit.edu	37	17	16029478	16029478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:16029478C>A	uc002gpo.2	-	15	1792	c.1552G>T	c.(1552-1554)GAA>TAA	p.E518*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.E518*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.E409*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.E409*|NCOR1_uc002gps.1_Nonsense_Mutation_p.E527*|NCOR1_uc010coz.1_Nonsense_Mutation_p.E334*|NCOR1_uc010cpb.1_Nonsense_Mutation_p.E528*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.E519*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	518	Potential.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ttatcctcttctttttcttct	0.179		NaN											1	0	6.49762e-13	0.00074312	6.49762e-12	19	28		Valid		
SLC13A2	9058	broad.mit.edu	37	17	26821083	26821083	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:26821083C>T	uc002hbh.2	+	8	1213	c.1146C>T	c.(1144-1146)TTC>TTT	p.F382F	SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.F338F|SLC13A2_uc010wan.1_Silent_p.F431F|SLC13A2_uc010wao.1_Silent_p.F339F|SLC13A2_uc002hbi.2_Silent_p.F311F	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	382	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAATTATGTTCATCATACCCT	0.607		NaN											0	0	0	0.000175454	0	17	91				
SRCIN1	80725	broad.mit.edu	37	17	36705305	36705305	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:36705305G>A	uc002hqd.2	-	16	3329	c.3104C>T	c.(3103-3105)TCG>TTG	p.S1035L	SRCIN1_uc002hqf.1_Missense_Mutation_p.S907L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S889L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	907					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GATGAAGGCCGAGTCCTTCTT	0.632		NaN											0	0	0	0.000319135	0	35	62				
C17orf57	124989	broad.mit.edu	37	17	45447812	45447812	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:45447812T>C	uc002iln.2	+	11	1226	c.815T>C	c.(814-816)ATG>ACG	p.M272T	C17orf57_uc002ilm.2_Missense_Mutation_p.M176T|C17orf57_uc002ill.1_Missense_Mutation_p.M28T|C17orf57_uc010daz.1_Missense_Mutation_p.M224T	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	272							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						GGTAACCACATGGTGGATATT	0.318		NaN											0	0	0	0.000375601	0	23	54				
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023	byFrequency	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:14779986G>A	uc010dlo.2	+	11	1628	c.1448G>A	c.(1447-1449)CGA>CAA	p.R483Q	ANKRD30B_uc010xak.1_RNA	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										ovary(1)|skin(1)	2						GAATCCAAACGAGAGGAAGAT	0.284		NaN											0	0	0	0.000673444	0	7	29				
CCDC102B	79839	broad.mit.edu	37	18	66678339	66678339	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:66678339G>A	uc002lkk.2	+	9	1655	c.1432G>A	c.(1432-1434)GAG>AAG	p.E478K	CCDC102B_uc002lki.2_Missense_Mutation_p.E478K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	478	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAAGAAGATGAGGTACTACT	0.368		NaN											0	0	0	3.59834e-05	0	6	33				
MUC16	94025	broad.mit.edu	37	19	9014673	9014673	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9014673C>G	uc002mkp.2	-	31	38506	c.38302G>C	c.(38302-38304)GAT>CAT	p.D12768H	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12770	SEA 5.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGATGGCATCCACTCCAGTG	0.547		NaN											0	0	0	0.000227799	0	20	28				
MUC16	94025	broad.mit.edu	37	19	9017487	9017487	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9017487C>G	uc002mkp.2	-	26	38041	c.37837G>C	c.(37837-37839)GAT>CAT	p.D12613H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12615	SEA 4.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGATGGCATCCACTCCAGTG	0.547		NaN											0	0	0	0.00010058	0	8	75				
COL5A3	50509	broad.mit.edu	37	19	10116237	10116237	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:10116237G>A	uc002mmq.1	-	4	677	c.591C>T	c.(589-591)TTC>TTT	p.F197F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	197	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CTCCTACCTCGAAAGTCTTTT	0.532		NaN											0	0	0	0.000151284	0	11	96				
ICAM3	3385	broad.mit.edu	37	19	10445810	10445811	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:10445810_10445811CG>AT	uc002mob.2	-	4	923_924	c.868_869CG>AT	c.(868-870)CGG>ATG	p.R290M	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.R213M|ICAM3_uc010xlf.1_3'UTR	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	290	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGATCTCCCGGGCACCCTCC	0.668		NaN											0	0	0	6.4e-05	0	13	274				
CYP4F12	66002	broad.mit.edu	37	19	15791063	15791063	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:15791063C>T	uc002nbl.2	+	4	414	c.353C>T	c.(352-354)GCA>GTA	p.A118V	CYP4F12_uc010xoo.1_Missense_Mutation_p.A118V|CYP4F12_uc010xop.1_Missense_Mutation_p.A118V	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					GCTGCCATTGCACCCAAGGAT	0.567		NaN											0	0	0	0.000781405	0	67	174				
MAST3	23031	broad.mit.edu	37	19	18245741	18245741	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:18245741G>A	uc002nhz.3	+	16	1732	c.1732G>A	c.(1732-1734)GTG>ATG	p.V578M		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	578	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GGTGGGCTGCGTGCCTTTCTT	0.617		NaN											0	0	0	0.000781405	0	45	91				
ZNF569	148266	broad.mit.edu	37	19	37903795	37903795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:37903795G>A	uc002ogi.2	-	6	2323	c.1765C>T	c.(1765-1767)CAA>TAA	p.Q589*	ZNF569_uc002ogh.2_Nonsense_Mutation_p.Q430*|ZNF569_uc002ogj.2_Nonsense_Mutation_p.Q613*	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	589	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGTTCTTTGAGAGAAGGCT	0.418		NaN											0	0	0	0.000339439	0	32	72				
SIPA1L3	23094	broad.mit.edu	37	19	38682830	38682830	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:38682830G>A	uc002ohk.2	+	17	4985	c.4476G>A	c.(4474-4476)TTG>TTA	p.L1492L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1492					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCGAGGTTGAGGGCATCCC	0.552		NaN											0	0	0	0.000295444	0	21	44				
NUMBL	9253	broad.mit.edu	37	19	41188699	41188699	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:41188699T>C	uc002oon.2	-	5	501	c.333A>G	c.(331-333)CGA>CGG	p.R111R	NUMBL_uc010xvq.1_Silent_p.R70R|NUMBL_uc002ooo.2_Silent_p.R111R|NUMBL_uc010xvr.1_Silent_p.R70R	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	111	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TCACGGACTTTCGGCCCATCT	0.657		NaN											0	0	0	0.000308642	0	15	55				
ERCC2	2068	broad.mit.edu	37	19	45867337	45867337	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:45867337G>A	uc002pbj.2	-	10	903	c.856C>T	c.(856-858)CGG>TGG	p.R286W	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R208W|ERCC2_uc002pbk.2_Missense_Mutation_p.R262W|ERCC2_uc002pbl.3_Missense_Mutation_p.R262W|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	286					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCAGACGCCGGTACTCGTCC	0.701		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.000274275	0	9	16		Valid		
PLA2G4C	8605	broad.mit.edu	37	19	48609779	48609779	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:48609779C>T	uc002phx.2	-	2	406	c.8G>A	c.(7-9)AGC>AAC	p.S3N	PLA2G4C_uc002phw.2_5'Flank|PLA2G4C_uc010elr.2_Missense_Mutation_p.S3N|PLA2G4C_uc010xzd.1_Silent_p.K23K|PLA2G4C_uc002phy.3_Missense_Mutation_p.S3N	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	3	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGGACTTACCTTCCCATGGT	0.502		NaN											0	0	0	0.000319135	0	38	82				
NBAS	51594	broad.mit.edu	37	2	15676631	15676631	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:15676631C>G	uc002rcc.1	-	8	584	c.558G>C	c.(556-558)TTG>TTC	p.L186F	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	186										ovary(2)|liver(1)|skin(1)	4						CTAAAAATATCAACCCAGCAA	0.348		NaN											0	0	0	0.000781405	0	64	179				
MATN3	4148	broad.mit.edu	37	2	20202935	20202935	+	Silent	SNP	C	C	T	rs139419822	by1000genomes	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:20202935C>T	uc002rdl.2	-	3	966	c.903G>A	c.(901-903)AAG>AAA	p.K301K	MATN3_uc010exu.1_Intron	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	301	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACACGTTTTCTTGTCGGCAT	0.527		NaN											0	0	0	0.000295444	0	20	45				
TMEM214	54867	broad.mit.edu	37	2	27259978	27259978	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27259978G>T	uc002ria.3	+	8	1052	c.942G>T	c.(940-942)ATG>ATT	p.M314I	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.M269I	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	314						integral to membrane	protein binding				0						GCTTCGGCATGATTGGCCCCA	0.567		NaN											1	0	3.8128e-34	0.000781405	3.91141e-33	65	163				
C2orf53	339779	broad.mit.edu	37	2	27361074	27361074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27361074G>A	uc002rjb.2	-	3	704	c.124C>T	c.(124-126)CAG>TAG	p.Q42*		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	42	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGCCCTGATGGGGAGAG	0.627		NaN											0	0	0	0.00074312	0	19	30				
ACYP2	98	broad.mit.edu	37	2	54531938	54531938	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:54531938A>G	uc002rxq.3	+	4	725	c.299A>G	c.(298-300)TAA>TGA	p.*100*		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	100					phosphate metabolic process		acylphosphatase activity				0						ATTAGATACTAATAGAAGAGA	0.333		NaN											0	0	0	0.000151284	0	14	16				
PAPOLG	64895	broad.mit.edu	37	2	60996024	60996024	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:60996024G>A	uc002sai.2	+	5	668	c.437G>A	c.(436-438)AGA>AAA	p.R146K	PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	146					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGAAACTTAAGAGTAAGTATC	0.284		NaN											0	0	0	0.00010058	0	12	15				
EIF2AK3	9451	broad.mit.edu	37	2	88894996	88894996	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:88894996A>G	uc002stc.3	-	3	826	c.624T>C	c.(622-624)TAT>TAC	p.Y208Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	208	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCTTTCCACTATATGCACTGA	0.318		NaN											0	0	0	0.000566183	0	16	37				
BOLL	66037	broad.mit.edu	37	2	198621229	198621229	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:198621229A>T	uc002uus.2	-	9	962	c.652T>A	c.(652-654)TAT>AAT	p.Y218N	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.Y224N|BOLL_uc002uut.2_Missense_Mutation_p.Y230N|BOLL_uc010zha.1_Missense_Mutation_p.Y109N|BOLL_uc002uuu.1_Missense_Mutation_p.Y246N	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	218					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						ACTGGTTGATAAATAACCTCA	0.373		NaN											0	0	0	0.000274275	0	8	28				
PIKFYVE	200576	broad.mit.edu	37	2	209189658	209189658	+	Silent	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:209189658A>T	uc002vcz.2	+	19	2513	c.2355A>T	c.(2353-2355)CGA>CGT	p.R785R	PIKFYVE_uc010fun.1_Silent_p.R466R|PIKFYVE_uc002vcy.1_Silent_p.R729R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	785					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GAATCAGTCGAATGACCCAAG	0.343		NaN											0	0	0	0.00106085	0	25	58				
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:219000386C>T	uc002vgz.1	+	4	1087	c.862C>T	c.(862-864)CGC>TGC	p.R288C	CXCR2_uc002vha.1_Missense_Mutation_p.R288C|CXCR2_uc002vhb.1_Missense_Mutation_p.R288C	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	288	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						GACCTGTGAGCGCCGCAATCA	0.592		NaN											0	0	0	8.12818e-05	0	7	95				
FAM134A	79137	broad.mit.edu	37	2	220047272	220047272	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220047272C>T	uc002vjw.3	+	9	1689	c.1553C>T	c.(1552-1554)CCT>CTT	p.P518L	FAM134A_uc010fwc.2_Missense_Mutation_p.P311L|FAM134A_uc002vjx.2_Missense_Mutation_p.P276L	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	518						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAAACCCCCTGATGCTCCA	0.607		NaN											0	0	0	0.000720815	0	27	66				
TMEM198	130612	broad.mit.edu	37	2	220412380	220412380	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220412380G>A	uc002vme.2	+	4	904	c.319G>A	c.(319-321)GGG>AGG	p.G107R	TMEM198_uc002vmf.2_Missense_Mutation_p.G107R	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	107	Helical; (Potential).|Leu-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTGCTCTGCGGGCTGGTGGC	0.687		NaN											0	0	0	0.000151284	0	14	125				
MTERFD2	130916	broad.mit.edu	37	2	242039054	242039054	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:242039054C>G	uc002wan.1	-	1	857	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.E93Q	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	93										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCTCTCTAGCTCCAAG	0.507		NaN											0	0	0	0.000781405	0	44	82				
ZNF343	79175	broad.mit.edu	37	20	2464291	2464291	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:2464291C>A	uc002wge.1	-	6	1804	c.1316G>T	c.(1315-1317)TGC>TTC	p.C439F	ZNF343_uc010gao.1_Missense_Mutation_p.C439F|ZNF343_uc002wgd.1_Missense_Mutation_p.C349F	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	439	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACACTCCCTGCAAACATAAGG	0.522		NaN											1	0	6.72482e-11	0.000308642	6.61367e-10	16	41				
DLGAP4	22839	broad.mit.edu	37	20	35064675	35064675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:35064675C>A	uc002xff.2	+	4	1598	c.1163C>A	c.(1162-1164)TCA>TAA	p.S388*	DLGAP4_uc010zvp.1_Nonsense_Mutation_p.S388*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	388					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAAGCCCTCACCCAAGACC	0.711		NaN											1	0	1.3612e-06	0.000308642	1.28558e-05	14	29				
MAFB	9935	broad.mit.edu	37	20	39316580	39316580	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:39316580G>A	uc002xji.2	-	1	1297	c.911C>T	c.(910-912)TCC>TTC	p.S304F		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	304					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CCTGAAGCCGGAGTTGGCGAG	0.527		NaN	T	IGH@	MM								0	0	0	0.000958276	0	19	105				
EDN3	1908	broad.mit.edu	37	20	57875894	57875894	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:57875894C>T	uc002yap.2	+	1	396	c.27C>T	c.(25-27)TTC>TTT	p.F9F	EDN3_uc002yao.1_Silent_p.F9F|EDN3_uc002yaq.2_Silent_p.F9F|EDN3_uc002yar.2_Silent_p.F9F|EDN3_uc002yas.2_Silent_p.F9F	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	9					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			skin(1)	1	all_lung(29;0.0115)					GGCTCCTTTTCGGGCTCACAG	0.721		NaN											0	0	0	0.000308642	0	12	22				
POTEH	23784	broad.mit.edu	37	22	16287731	16287731	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:16287731G>T	uc010gqp.2	-	1	207	c.155C>A	c.(154-156)TCT>TAT	p.S52Y	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	52										skin(1)	1						CTTCATAGCAGAATCGTCGTG	0.612		NaN											1	0	5.96743e-59	0.000781405	6.17499e-58	87	442				
TOB2	10766	broad.mit.edu	37	22	41833080	41833080	+	Silent	SNP	C	C	T	rs61756254		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:41833080C>T	uc003azz.1	-	2	977	c.270G>A	c.(268-270)CTG>CTA	p.L90L		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	90					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						TCCAGACACTCAGCTCCTCAG	0.597		NaN											0	0	0	0.000589545	0	40	88				
SRGAP3	9901	broad.mit.edu	37	3	9032407	9032407	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:9032407C>T	uc003brf.1	-	21	3351	c.2675G>A	c.(2674-2676)TGC>TAC	p.C892Y	SRGAP3_uc003brg.1_Missense_Mutation_p.C868Y	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	892					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGCTGGGGCAGGCAGCAGC	0.697		NaN	T	RAF1	pilocytic astrocytoma								0	0	0	0.00010058	0	12	18				
ZNF167	55888	broad.mit.edu	37	3	44598778	44598778	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:44598778G>A	uc010hin.2	+	2	627	c.239G>A	c.(238-240)CGC>CAC	p.R80H	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R80H|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R80H|ZNF167_uc003cnk.2_Missense_Mutation_p.R80H	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	80	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GAGCTCTGCCGCTGGTGGCTC	0.607		NaN											0	0	0	0.000151284	0	14	38				
CACNA2D2	9254	broad.mit.edu	37	3	50414954	50414954	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:50414954C>T	uc003daq.2	-	17	1608	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	CACNA2D2_uc003dap.2_Missense_Mutation_p.V524M	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	524	Cache.|Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ATGCCCATCACGCCCAGGATC	0.602		NaN											0	0	0	0.000673444	0	11	24				
BOC	91653	broad.mit.edu	37	3	112998756	112998756	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:112998756G>A	uc003dzx.2	+	13	2727	c.2106G>A	c.(2104-2106)TCG>TCA	p.S702S	BOC_uc003dzy.2_Silent_p.S702S|BOC_uc003dzz.2_Silent_p.S703S|BOC_uc003eab.2_Silent_p.S403S|BOC_uc003eac.2_Silent_p.S17S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	702	Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACGTGGTGTCGGGCTACAGCG	0.607		NaN											0	0	0	0.000589545	0	46	81				
KIAA1407	57577	broad.mit.edu	37	3	113753924	113753924	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:113753924C>T	uc003eax.2	-	6	813	c.666G>A	c.(664-666)TCG>TCA	p.S222S	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S200S|KIAA1407_uc011bip.1_Silent_p.S209S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	222	Potential.									ovary(2)	2						CCAAGAAGGCCGATTTTTTCA	0.423		NaN											0	0	0	0.000586117	0	26	69				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.000422831	0	16	42		Valid		
KLHL8	57563	broad.mit.edu	37	4	88099702	88099702	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:88099702G>A	uc011cdb.1	-	5	1408	c.1023C>T	c.(1021-1023)ATC>ATT	p.I341I	KLHL8_uc003hql.1_Silent_p.I341I|KLHL8_uc003hqm.1_Silent_p.I265I|KLHL8_uc003hqn.1_Silent_p.I158I|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	341	Kelch 1.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTTTTGTTGATAGAATAGC	0.428		NaN											0	0	0	0.000442599	0	8	64				
FGA	2243	broad.mit.edu	37	4	155506820	155506820	+	Silent	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:155506820C>G	uc003iod.1	-	5	1819	c.1761G>C	c.(1759-1761)ACG>ACC	p.T587T	FGA_uc003ioe.1_Silent_p.T587T|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	587	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTTGTAACTCGTGCTACTAG	0.433		NaN											0	0	0	0.000878237	0	27	49				
TLL1	7092	broad.mit.edu	37	4	166795194	166795194	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:166795194G>C	uc003irh.1	+	1	785	c.138G>C	c.(136-138)GAG>GAC	p.E46D	TLL1_uc011cjn.1_Missense_Mutation_p.E46D|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	46					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATAAAACAGAGACTATAGATT	0.577		NaN											0	0	0	0.000781405	0	94	177				
DNAH5	1767	broad.mit.edu	37	5	13814929	13814929	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:13814929C>T	uc003jfd.2	-	43	7057	c.7015G>A	c.(7015-7017)GGT>AGT	p.G2339S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2339	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCTACTGGACCATCAAGAATT	0.383		NaN							Kartagener_syndrome				0	0	0	0.000151284	0	13	24				
SKIV2L2	23517	broad.mit.edu	37	5	54674240	54674240	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:54674240G>A	uc003jpy.3	+	17	2175	c.1909G>A	c.(1909-1911)GGT>AGT	p.G637S	SKIV2L2_uc011cqi.1_Missense_Mutation_p.G536S	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	637					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCCAAATTGGGTAAAGAAAT	0.308		NaN											0	0	0	0.000375601	0	23	69				
PCDHA7	56141	broad.mit.edu	37	5	140215322	140215322	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215322G>A	uc003lhq.2	+	1	1354	c.1354G>A	c.(1354-1356)GCC>ACC	p.A452T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A452T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCCCCGGCGTT	0.677		NaN											0	0	0	0.000781405	0	50	99				
PCDHA7	56141	broad.mit.edu	37	5	140215822	140215822	+	Silent	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215822G>C	uc003lhq.2	+	1	1854	c.1854G>C	c.(1852-1854)GCG>GCC	p.A618A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A618A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	618	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCGGTGCGAGCATCCCGT	0.637		NaN											0	0	0	0.000589545	0	41	92				
PCDHGB6	56100	broad.mit.edu	37	5	140787909	140787909	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140787909T>A	uc003lkj.1	+	1	140	c.140T>A	c.(139-141)GTG>GAG	p.V47E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.V47E	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	47	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGGTGGTGGGGAACCTC	0.592		NaN											0	0	0	0.000132079	0	20	55				
DBN1	1627	broad.mit.edu	37	5	176885084	176885084	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:176885084T>C	uc003mgy.2	-	12	1923	c.1751A>G	c.(1750-1752)GAG>GGG	p.E584G	DBN1_uc011dga.1_Missense_Mutation_p.E316G|DBN1_uc003mgx.2_Missense_Mutation_p.E586G|DBN1_uc010jkn.1_Missense_Mutation_p.E534G|DBN1_uc003mgz.1_Missense_Mutation_p.E567G	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	584					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTGGTCTCGCCATTGGT	0.682		NaN											0	0	0	0.000339439	0	31	88				
HIVEP1	3096	broad.mit.edu	37	6	12124529	12124529	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:12124529A>C	uc003nac.2	+	4	4680	c.4501A>C	c.(4501-4503)ACC>CCC	p.T1501P	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1501					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCCAGCTCTACCAACGTTTT	0.438		NaN											0	0	0	0.00106085	0	27	40				
HIST1H2BG	8339	broad.mit.edu	37	6	26216573	26216573	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:26216573C>T	uc003ngz.2	-	1	300	c.299G>A	c.(298-300)CGT>CAT	p.R100H	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	100					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				AAGCAGCAGACGCACGGCGGT	0.567		NaN											0	0	0	0.000878237	0	26	148				
HLA-F	3134	broad.mit.edu	37	6	29694776	29694776	+	Silent	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:29694776C>A	uc003nno.3	+	7	1277	c.1153C>A	c.(1153-1155)CGG>AGG	p.R385R	HLA-F_uc011dlx.1_Silent_p.R385R|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CTTGGGCCGCCGGAAGGTGGG	0.512		NaN											1	0	1.50039e-11	0.000229342	1.48789e-10	21	244				
HLA-C	3107	broad.mit.edu	37	6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	rs41543115		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31239532C>T	uc003nsy.2	-	2	194	c.187G>A	c.(187-189)GAC>AAC	p.D63N	HLA-C_uc011dnj.1_Missense_Mutation_p.D35N|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.D63N|HLA-C_uc010jsl.2_Missense_Mutation_p.D63N|HLA-C_uc003nta.2_Missense_Mutation_p.D63N|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	63	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CTCGCGGCGTCGCTGTCGAAC	0.687		NaN											0	0	0	0.000781405	0	63	50				
HSPA1A	3303	broad.mit.edu	37	6	31785219	31785219	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31785219C>T	uc003nxj.2	+	1	1929	c.1686C>T	c.(1684-1686)ATC>ATT	p.I562I	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.I325I|HSPA1A_uc003nxi.1_Silent_p.I397I|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	562					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						AGGGCAAGATCAGCGAGGCGG	0.587		NaN											0	0	0	0.000781405	0	53	64				
EPHA7	2045	broad.mit.edu	37	6	93955099	93955099	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:93955099T>C	uc003poe.2	-	16	3040	c.2799A>G	c.(2797-2799)CAA>CAG	p.Q933Q	EPHA7_uc003pof.2_Silent_p.Q928Q|EPHA7_uc011eac.1_Silent_p.Q929Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	933	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTTAATAGCTTGTAGCCATT	0.378		NaN											0	0	0	0.000227799	0	29	78				
HACE1	57531	broad.mit.edu	37	6	105225170	105225170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:105225170C>T	uc003pqu.1	-	15	1866	c.1589G>A	c.(1588-1590)TGG>TAG	p.W530*	HACE1_uc010kcy.1_Nonsense_Mutation_p.W12*|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Nonsense_Mutation_p.W183*	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	530					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGAACCATTCACAGCG	0.373		NaN											0	0	0	0.000781405	0	48	99				
CREB5	9586	broad.mit.edu	37	7	28843821	28843821	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:28843821G>A	uc003szq.2	+	8	1098	c.708G>A	c.(706-708)TTG>TTA	p.L236L	CREB5_uc003szo.2_Silent_p.L203L|CREB5_uc003szr.2_Silent_p.L229L|CREB5_uc003szs.2_Silent_p.L97L	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	236					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						TTCAGAGGTTGAAGGCTGCAT	0.453		NaN											0	0	0	0.00058488	0	33	43				
ASB4	51666	broad.mit.edu	37	7	95157438	95157438	+	Silent	SNP	C	C	T	rs142833028		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:95157438C>T	uc011kij.1	+	3	801	c.801C>T	c.(799-801)CTC>CTT	p.L267L	ASB4_uc003unx.2_Silent_p.L267L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	267	ANK 6.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCACGTGCTCATGCACATGA	0.562		NaN									OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000175454	0	22	42				
DOCK4	9732	broad.mit.edu	37	7	111422965	111422965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:111422965C>T	uc003vfx.2	-	34	3782	c.3513G>A	c.(3511-3513)ATG>ATA	p.M1171I	DOCK4_uc011kml.1_Missense_Mutation_p.M52I|DOCK4_uc011kmm.1_Missense_Mutation_p.M78I|DOCK4_uc003vfw.2_Missense_Mutation_p.M621I|DOCK4_uc003vfy.2_Missense_Mutation_p.M1216I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1171	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTACCTCTCCCATTTTCATGC	0.373		NaN											0	0	0	0.000509022	0	41	108				
TGS1	96764	broad.mit.edu	37	8	56711557	56711557	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:56711557G>A	uc003xsj.3	+	8	2014	c.1627G>A	c.(1627-1629)GCT>ACT	p.A543T	TGS1_uc010lyh.2_Missense_Mutation_p.A447T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	543					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTGCACGACGCTTCCACAAG	0.388		NaN											0	0	0	0.00047179	0	23	48				
C8orf45	157777	broad.mit.edu	37	8	67786681	67786681	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:67786681T>C	uc003xwz.3	+	3	386	c.215T>C	c.(214-216)GTC>GCC	p.V72A	C8orf45_uc003xwv.2_Missense_Mutation_p.V72A|C8orf45_uc011lev.1_Missense_Mutation_p.V72A|C8orf45_uc011lew.1_Intron|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V72A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	72					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTGCTGAAGTCTTTCAATCA	0.303		NaN											0	0	0	0.000279167	0	28	61				
CDKN2B	1030	broad.mit.edu	37	9	22008871	22008871	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:22008871C>G	uc003zpo.2	-	1	442	c.82G>C	c.(82-84)GAG>CAG	p.E28Q	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_Missense_Mutation_p.E28Q	NM_004936	NP_004927	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B isoform 1	28	ANK 1; truncated.				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGCACCTTCTCCACTAGTCCC	0.716		NaN							Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System		OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000274275	0	9	16				
ASPN	54829	broad.mit.edu	37	9	95219645	95219645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:95219645G>T	uc004ase.1	-	8	1312	c.1068C>A	c.(1066-1068)TAC>TAA	p.Y356*	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	356	LRR 10.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GCATTTCCCAGTATTTCACCG	0.378		NaN											1	0	4.35082e-09	0.000175454	4.24383e-08	20	39				
STXBP1	6812	broad.mit.edu	37	9	130438119	130438119	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:130438119A>T	uc004brl.2	+	14	1344	c.1147A>T	c.(1147-1149)ATC>TTC	p.I383F	STXBP1_uc004brk.2_Missense_Mutation_p.I383F	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	383					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						GGGAGAGAAGATCAAGGACCC	0.488		NaN											0	0	0	0.000151284	0	12	40				
CCBL1	883	broad.mit.edu	37	9	131600026	131600026	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:131600026C>T	uc004bwh.2	-	6	690	c.505G>A	c.(505-507)GGC>AGC	p.G169S	CCBL1_uc004bwf.2_Missense_Mutation_p.G203S|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.G169S|CCBL1_uc004bwj.2_Missense_Mutation_p.G119S|CCBL1_uc011mbl.1_Missense_Mutation_p.G263S|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Intron	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	169					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTGAATTTGCCGGCCAGCTCC	0.622		NaN											0	0	0	0.000308642	0	13	127				
IQSEC2	23096	broad.mit.edu	37	X	53283763	53283763	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:53283763A>G	uc004dsd.2	-	4	1551	c.1350T>C	c.(1348-1350)TCT>TCC	p.S450S	IQSEC2_uc004dsc.2_Silent_p.S245S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	440					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AAAACTCTCCAGATGTGGTGA	0.572		NaN											0	0	0	0.000184323	0	27	30				
EFNB1	1947	broad.mit.edu	37	X	68060145	68060145	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:68060145C>T	uc004dxd.3	+	5	1469	c.689C>T	c.(688-690)CCT>CTT	p.P230L	EFNB1_uc004dxe.2_Missense_Mutation_p.P230L	NM_004429	NP_004420	P98172	EFNB1_HUMAN	ephrin-B1 precursor	230	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding				0						AGCGGGGACCCTGATGGCTTC	0.582		NaN											0	0	0	8.12818e-05	0	6	31				
SLC6A14	11254	broad.mit.edu	37	X	115584268	115584268	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:115584268C>T	uc004eqi.2	+	9	1350	c.1246C>T	c.(1246-1248)CTT>TTT	p.L416F		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	416	Helical; Name=8; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TTTTTTCATGCTTTTAACTTT	0.378		NaN											0	0	0	0.000720815	0	26	11				
LONRF3	79836	broad.mit.edu	37	X	118109240	118109240	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:118109240C>G	uc004eqw.2	+	1	528	c.497C>G	c.(496-498)TCA>TGA	p.S166*	LONRF3_uc004eqx.2_Nonsense_Mutation_p.S166*|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	166	RING-type 1.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						GGGTTTCTATCAGACCCCGTG	0.672		NaN											0	0	0	0.00047179	0	21	6				
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:1268732G>A	uc010nyk.1	+	5	1573	c.1573G>A	c.(1573-1575)GAG>AAG	p.E525K		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	525	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTGGACTGCGAGGCGGGCAG	0.692		NaN											0	0	0	0.001984	0	7	21				
PRDM16	63976	broad.mit.edu	37	1	3102752	3102752	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:3102752C>A	uc001akf.2	+	2	181	c.101C>A	c.(100-102)GCG>GAG	p.A34E	PRDM16_uc001akc.2_Missense_Mutation_p.A34E|PRDM16_uc001akd.2_Missense_Mutation_p.A34E|PRDM16_uc001ake.2_Missense_Mutation_p.A34E|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	34					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCACAGCGCGGAGGACGAG	0.642		NaN	T	EVI1	MDS|AML								1	0	1.33834e-09	0.007413	1.79893e-09	17	111				
C1orf127	148345	broad.mit.edu	37	1	11007721	11007721	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:11007721C>T	uc010oao.1	-	8	2029	c.2024G>A	c.(2023-2025)TGA>TAA	p.*675*	C1orf127_uc001arr.1_Silent_p.*657*|C1orf127_uc001ars.1_Silent_p.*649*	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	675										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CATGGAGGCTCAGCGTGAGGG	0.637		NaN											0	0	0	0.009096	0	4	20				
MIIP	60672	broad.mit.edu	37	1	12090089	12090089	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12090089A>T	uc001ato.1	+	8	1030	c.850A>T	c.(850-852)AGC>TGC	p.S284C		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	284										ovary(1)	1						GCGCAGGGTGAGCATCCCGCT	0.667		NaN											0	0	0	0.007413	0	19	83				
VPS13D	55187	broad.mit.edu	37	1	12429573	12429573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12429573G>T	uc001atv.2	+	54	10765	c.10624G>T	c.(10624-10626)GAA>TAA	p.E3542*	VPS13D_uc001atw.2_Nonsense_Mutation_p.E3517*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E2729*|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3541					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTCCGGACTGAAGTGAAGCC	0.517		NaN											1	0	1.88708e-17	0.008361	2.62165e-17	28	181				
AADACL3	126767	broad.mit.edu	37	1	12785550	12785550	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12785550G>A	uc009vnn.1	+	4	873	c.640G>A	c.(640-642)GCC>ACC	p.A214T	AADACL3_uc001aug.1_Missense_Mutation_p.A144T	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	214							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAAAGGTGCCCATTTGCC	0.483		NaN											0	0	0	0.01441	0	76	61				
LOC440563	440563	broad.mit.edu	37	1	13183214	13183214	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:13183214G>A	uc010obg.1	-	1	754	c.659C>T	c.(658-660)TCA>TTA	p.S220L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	220						ribonucleoprotein complex	nucleic acid binding|nucleotide binding				0						CTCCTCTTCTGACTTAGCATT	0.458		NaN											0	0	0	0.00874	0	36	120				
CELA2B	51032	broad.mit.edu	37	1	15813791	15813791	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:15813791T>A	uc001awl.2	+	7	676	c.651T>A	c.(649-651)GGT>GGA	p.G217G		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	217	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GAGACTCCGGTGGGCCGCTGA	0.562		NaN											0	0	0	0.015359	0	30	137				
PLEKHM2	23207	broad.mit.edu	37	1	16060340	16060340	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16060340T>G	uc010obo.1	+	20	3198	c.2971T>G	c.(2971-2973)TTC>GTC	p.F991V	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	991					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAAGAAGAAATTCGAGGATGC	0.642		NaN											0	0	0	0.017118	0	34	130				
EPHA2	1969	broad.mit.edu	37	1	16459810	16459810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16459810C>A	uc001aya.1	-	11	2055	c.1918G>T	c.(1918-1920)GAG>TAG	p.E640*		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	640	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACCGGCACCTCCTTCTTCCCC	0.627		NaN											1	0	9.86323e-18	0.021523	1.37256e-17	22	113				
ATP13A2	23400	broad.mit.edu	37	1	17314949	17314949	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:17314949C>G	uc001baa.2	-	24	2820	c.2630G>C	c.(2629-2631)GGA>GCA	p.G877A	ATP13A2_uc001azz.1_Missense_Mutation_p.G24A|ATP13A2_uc001bab.2_Missense_Mutation_p.G872A|ATP13A2_uc001bac.2_Missense_Mutation_p.G833A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	877	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCCGTCTCCGCACATGCC	0.592		NaN											0	0	0	0.015359	0	32	141				
UBR4	23352	broad.mit.edu	37	1	19441311	19441311	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:19441311C>T	uc001bbi.2	-	75	11200	c.11196G>A	c.(11194-11196)CGG>CGA	p.R3732R	UBR4_uc001bbj.1_Silent_p.R147R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3732					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCACCTTCTTCCGGTCTTCTT	0.522		NaN											0	0	0	0.007835	0	33	183				
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:20107215G>C	uc001bcn.2	-	4	279	c.37C>G	c.(37-39)CAG>GAG	p.Q13E	TMCO4_uc001bcm.2_Missense_Mutation_p.Q13E|TMCO4_uc001bco.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcp.1_Missense_Mutation_p.Q13E|TMCO4_uc009vpn.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcq.1_Missense_Mutation_p.Q13E	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.498		NaN											0	0	0	0.001168	0	6	46				
KIF17	57576	broad.mit.edu	37	1	21042025	21042025	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:21042025G>C	uc001bdr.3	-	2	457	c.339C>G	c.(337-339)ATC>ATG	p.I113M	KIF17_uc001bds.3_Missense_Mutation_p.I113M	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	113	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCTGGGGATGATGCCTCTCT	0.652		NaN											0	0	0	0.004656	0	25	107				
RPL11	6135	broad.mit.edu	37	1	24021182	24021182	+	Silent	SNP	C	C	T	rs1059937		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021182C>T	uc001bhk.2	+	4	317	c.297C>T	c.(295-297)TTC>TTT	p.F99F	RPL11_uc001bhl.2_Silent_p.F98F|RPL11_uc001bhm.2_Silent_p.F88F|RPL11_uc001bhn.1_Silent_p.F88F	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11	99					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAAACAACTTCTCAGATACTG	0.438		NaN											0	0	0	0.01441	0	84	60				
RPL11	6135	broad.mit.edu	37	1	24021260	24021260	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021260C>G	uc001bhk.2	+	4	395	c.375C>G	c.(373-375)ATC>ATG	p.I125M	RPL11_uc001bhl.2_Missense_Mutation_p.I124M|RPL11_uc001bhm.2_Missense_Mutation_p.I114M|RPL11_uc001bhn.1_Missense_Mutation_p.I114M	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11	125					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCATTGGTATCTACGGCCTGG	0.403		NaN											0	0	0	0.01441	0	78	69				
CSMD2	114784	broad.mit.edu	37	1	34208917	34208917	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34208917A>T	uc001bxn.1	-	14	2046	c.2017T>A	c.(2017-2019)TCC>ACC	p.S673T	CSMD2_uc001bxm.1_Missense_Mutation_p.S713T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	673	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCCTGTGGAGTGGTCAGTC	0.597		NaN											0	0	0	0.020292	0	14	49				
CSMD2	114784	broad.mit.edu	37	1	34291361	34291361	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34291361C>G	uc001bxn.1	-	7	957	c.928G>C	c.(928-930)GAG>CAG	p.E310Q	CSMD2_uc001bxm.1_Missense_Mutation_p.E350Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	310	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTCAACTCAATTTGCTTC	0.537		NaN											0	0	0	0.006214	0	9	43				
ZMYM1	79830	broad.mit.edu	37	1	35576046	35576046	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35576046C>T	uc001bym.2	+	8	1107	c.959C>T	c.(958-960)TCA>TTA	p.S320L	ZMYM1_uc001byn.2_Missense_Mutation_p.S320L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S320L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S245L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	320	MYM-type 4.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATCTTCTTCAGGTAATGTT	0.289		NaN											0	0	0	0.003163	0	16	102				
ZMYM1	79830	broad.mit.edu	37	1	35579264	35579264	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35579264C>T	uc001bym.2	+	11	1981	c.1833C>T	c.(1831-1833)TTC>TTT	p.F611F	ZMYM1_uc001byn.2_Silent_p.F611F|ZMYM1_uc010ohu.1_Silent_p.F592F|ZMYM1_uc001byo.2_Silent_p.F251F|ZMYM1_uc009vut.2_Silent_p.F536F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	611						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGTTGACTTCTATAACAGTA	0.299		NaN											0	0	0	0.004007	0	15	54				
ZMYM1	79830	broad.mit.edu	37	1	35580694	35580694	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35580694C>A	uc001bym.2	+	11	3411	c.3263C>A	c.(3262-3264)TCT>TAT	p.S1088Y	ZMYM1_uc001byn.2_Missense_Mutation_p.S1088Y|ZMYM1_uc010ohu.1_Missense_Mutation_p.S1069Y|ZMYM1_uc001byo.2_Missense_Mutation_p.S728Y|ZMYM1_uc009vut.2_Missense_Mutation_p.S1013Y	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	1088						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTCATTTTCTACCCTGCCT	0.398		NaN											1	0	3.08376e-08	0.01892	4.11168e-08	25	107				
EIF2C4	192670	broad.mit.edu	37	1	36298149	36298149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:36298149C>T	uc001bzj.1	+	11	1547	c.1357C>T	c.(1357-1359)CAA>TAA	p.Q453*		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	453					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACCTCAGAAACAATGTAGGGA	0.398		NaN											0	0	0	0.005443	0	26	75				
HIVEP3	59269	broad.mit.edu	37	1	41978764	41978764	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:41978764C>G	uc001cgz.3	-	8	7341	c.6128G>C	c.(6127-6129)AGA>ACA	p.R2043T	HIVEP3_uc001cha.3_Missense_Mutation_p.R2043T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2043					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCCAGTTCTCTTCCCAGGGG	0.637		NaN											0	0	0	0.01892	0	22	100				
CCDC23	374969	broad.mit.edu	37	1	43282117	43282117	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:43282117C>G	uc001cib.2	-	2	334	c.99G>C	c.(97-99)CAG>CAC	p.Q33H	ERMAP_uc010ojw.1_5'Flank|ERMAP_uc001cic.1_5'Flank|ERMAP_uc001cid.1_5'Flank	NM_199342	NP_955374	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	33	Potential.										0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTTTGTCTCTGCTTCAGCT	0.473		NaN											0	0	0	0.01441	0	45	247				
C1orf83	127428	broad.mit.edu	37	1	54520107	54520107	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:54520107C>A	uc001cwt.1	+	2	212	c.12C>A	c.(10-12)TTC>TTA	p.F4L	C1orf83_uc001cwu.1_RNA|TMEM59_uc001cwp.2_5'Flank|TMEM59_uc001cwq.2_5'Flank|TMEM59_uc001cwr.2_5'Flank|TMEM59_uc001cws.1_5'Flank	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	4					transcription, DNA-dependent	nucleus	DNA binding				0						TGGATAAATTCGTCATTCGAA	0.478		NaN											1	0	0.000308642	0.003163	0.000392558	14	70				
RAVER2	55225	broad.mit.edu	37	1	65273062	65273062	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:65273062C>T	uc001dbs.1	+	9	1624	c.1546C>T	c.(1546-1548)CTT>TTT	p.L516F	RAVER2_uc001dbt.1_Missense_Mutation_p.L408F|RAVER2_uc010opb.1_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	529						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GCAGCCTTATCTTCAGAGCTT	0.532		NaN											0	0	0	0.008291	0	11	99				
IL23R	149233	broad.mit.edu	37	1	67724193	67724193	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:67724193T>G	uc001ddo.2	+	11	1357	c.1272T>G	c.(1270-1272)AGT>AGG	p.S424R	IL23R_uc009waz.2_Missense_Mutation_p.S221R|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S22R|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S6R|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S170R|IL23R_uc010opn.1_Missense_Mutation_p.S269R|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Intron|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Intron|IL23R_uc010opr.1_Intron|IL23R_uc010ops.1_Missense_Mutation_p.S221R|IL23R_uc010opt.1_Missense_Mutation_p.S65R|IL23R_uc010opu.1_Missense_Mutation_p.S120R|IL23R_uc010opv.1_Missense_Mutation_p.S182R|IL23R_uc010opw.1_Missense_Mutation_p.S59R|IL23R_uc010opx.1_Missense_Mutation_p.S65R|IL23R_uc010opy.1_Missense_Mutation_p.S191R|IL23R_uc010opz.1_Missense_Mutation_p.S65R|IL23R_uc010oqa.1_Missense_Mutation_p.S65R|IL23R_uc010oqb.1_Missense_Mutation_p.S253R|IL23R_uc010oqc.1_Missense_Mutation_p.S140R|IL23R_uc010oqd.1_Missense_Mutation_p.S59R|IL23R_uc010oqe.1_Missense_Mutation_p.S22R|IL23R_uc010oqf.1_Missense_Mutation_p.S22R|IL23R_uc010oqg.1_Missense_Mutation_p.S22R|IL23R_uc010oqh.1_Missense_Mutation_p.S65R|IL23R_uc001dds.2_Missense_Mutation_p.S169R|IL23R_uc001ddt.2_Missense_Mutation_p.S22R	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	424	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						ATAATTCCAGTGAGCAGGTCC	0.343		NaN											0	0	0	0.021523	0	22	180				
LRRC7	57554	broad.mit.edu	37	1	70504754	70504754	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:70504754G>A	uc001dep.2	+	19	3163	c.3133G>A	c.(3133-3135)GAA>AAA	p.E1045K	LRRC7_uc009wbg.2_Missense_Mutation_p.E329K|LRRC7_uc001deq.2_Missense_Mutation_p.E286K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1045						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGTGAAAGCCGAAAAGAGGAT	0.438		NaN											0	0	0	0.010729	0	11	33				
LRRIQ3	127255	broad.mit.edu	37	1	74507428	74507428	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74507428T>A	uc001dfy.3	-	7	1379	c.1187A>T	c.(1186-1188)AAA>ATA	p.K396I	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	396										ovary(2)	2						TCGTATGTCTTTTTTAATGAT	0.343		NaN											0	0	0	0.013537	0	12	71				
FPGT	8790	broad.mit.edu	37	1	74670357	74670357	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74670357A>G	uc001dgb.1	+	4	663	c.626A>G	c.(625-627)GAT>GGT	p.D209G	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	209					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TTTGTCTTAGATCCTTTTGAT	0.378		NaN											0	0	0	0.020292	0	13	111				
LPHN2	23266	broad.mit.edu	37	1	82421724	82421724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:82421724C>G	uc001dit.3	+	10	2127	c.1946C>G	c.(1945-1947)TCA>TGA	p.S649*	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S649*|LPHN2_uc001div.2_Nonsense_Mutation_p.S649*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.S649*|LPHN2_uc001diw.2_Nonsense_Mutation_p.S233*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	662	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S649S(1)		ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAAGGGTCTCAATGCCCACA	0.353		NaN											0	0	0	0.007413	0	15	19				
TTLL7	79739	broad.mit.edu	37	1	84335732	84335732	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:84335732C>G	uc001djc.2	-	21	2973	c.2577G>C	c.(2575-2577)TTG>TTC	p.L859F	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	859					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGGTGTTCTCAAGAAGAATT	0.368		NaN											0	0	0	0.020292	0	15	12				
LPAR3	23566	broad.mit.edu	37	1	85331077	85331077	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:85331077T>C	uc001dkl.2	-	1	766	c.727A>G	c.(727-729)ACT>GCT	p.T243A	LPAR3_uc009wcj.1_Missense_Mutation_p.T243A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	243	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						CCTAAGACAGTCATCACCGTC	0.368		NaN											0	0	0	0.014758	0	4	18				
HFM1	164045	broad.mit.edu	37	1	91784914	91784914	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:91784914T>C	uc001doa.3	-	24	2716	c.2616A>G	c.(2614-2616)ATA>ATG	p.I872M	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I551M|HFM1_uc001dob.3_Missense_Mutation_p.I104M|HFM1_uc010osv.1_Missense_Mutation_p.I556M	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	872	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAAATCTTGTATGGGAATGC	0.353		NaN											0	0	0	0.010504	0	19	13				
TGFBR3	7049	broad.mit.edu	37	1	92178024	92178024	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:92178024C>G	uc001doh.2	-	13	2408	c.1942G>C	c.(1942-1944)GAT>CAT	p.D648H	TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.D606H|TGFBR3_uc001doi.2_Missense_Mutation_p.D647H|TGFBR3_uc001doj.2_Missense_Mutation_p.D647H	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	648	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GACATCCTATCAGGGTTCGAA	0.393		NaN											0	0	0	0.013537	0	12	59				
NTNG1	22854	broad.mit.edu	37	1	107867236	107867236	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:107867236G>A	uc001dvh.3	+	3	1297	c.579G>A	c.(577-579)GTG>GTA	p.V193V	NTNG1_uc001dvf.3_Silent_p.V193V|NTNG1_uc010out.1_Silent_p.V193V|NTNG1_uc001dvc.3_Silent_p.V193V|NTNG1_uc001dvd.1_Silent_p.V193V	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	193	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAAATCCGTGAAGGATTTAT	0.398		NaN											0	0	0	0.001168	0	6	15				
RBM15	64783	broad.mit.edu	37	1	110882179	110882179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:110882179C>A	uc001dzl.1	+	1	235	c.152C>A	c.(151-153)TCG>TAG	p.S51*	RBM15_uc001dzm.1_Nonsense_Mutation_p.S51*|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	51					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAGAGCGCTCGCCAGTGAAG	0.647		NaN	T	MKL1	acute megakaryocytic leukemia								1	0	0.00185496	0.016723	0.00234132	13	54				
SLC16A1	6566	broad.mit.edu	37	1	113460090	113460090	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:113460090C>A	uc001ecx.2	-	4	1770	c.938G>T	c.(937-939)CGA>CTA	p.R313L	SLC16A1_uc001ecy.2_Missense_Mutation_p.R313L|SLC16A1_uc001ecz.2_Missense_Mutation_p.R313L	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	313	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATAGATGGTCGGGCTACCAT	0.433		NaN											1	0	3.59834e-05	0.001168	4.64808e-05	6	29				
CD2	914	broad.mit.edu	37	1	117297379	117297379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:117297379C>G	uc001egu.3	+	2	217	c.188C>G	c.(187-189)TCA>TGA	p.S63*	CD2_uc010owz.1_Nonsense_Mutation_p.S63*|CD2_uc010oxa.1_Nonsense_Mutation_p.S63*	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	63	Extracellular (Potential).|LFA-3 (CD58) binding region 1.|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAAAAAACTTCAGACAAGAAA	0.348		NaN											0	0	0	0.001984	0	7	66				
ACP6	51205	broad.mit.edu	37	1	147126339	147126339	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:147126339G>T	uc001epr.2	-	6	1214	c.750C>A	c.(748-750)TTC>TTA	p.F250L	ACP6_uc009wjj.1_Missense_Mutation_p.F207L	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	250					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					CCAGGAGGATGAAGAAGTCCA	0.537		NaN											1	0	8.12818e-05	0.001984	0.000104505	7	128				
RPRD2	23248	broad.mit.edu	37	1	150444194	150444194	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150444194G>A	uc009wlr.2	+	11	2971	c.2770G>A	c.(2770-2772)GGG>AGG	p.G924R	RPRD2_uc010pcc.1_Missense_Mutation_p.G898R|RPRD2_uc001eup.3_Missense_Mutation_p.G898R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	924	Ser-rich.						protein binding			ovary(1)	1						GAATGAACCTGGGTCTGACCG	0.502		NaN											0	0	0	0.01441	0	81	288				
MCL1	4170	broad.mit.edu	37	1	150551725	150551725	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150551725C>G	uc001euz.2	-	1	412	c.282G>C	c.(280-282)GCG>GCC	p.A94A	MCL1_uc010pch.1_5'UTR|MCL1_uc001eva.2_Silent_p.A94A	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	94					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAAGCAGCCTCGCGGGGGTCG	0.751		NaN											0	0	0	0.00308	0	5	14				
FCER1A	2205	broad.mit.edu	37	1	159273962	159273962	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:159273962A>C	uc001ftq.2	+	4	420	c.321A>C	c.(319-321)GAA>GAC	p.E107D		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	107	Extracellular (Potential).|Ig-like 1.					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGTACCTGGAAGTCTTCAGTG	0.403		NaN											0	0	0	0.001984	0	6	87				
MPZ	4359	broad.mit.edu	37	1	161276626	161276626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:161276626C>T	uc001gaf.3	-	3	387	c.350G>A	c.(349-351)TGG>TAG	p.W117*	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	107	Ig-like V-type.|Extracellular (Potential).				synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCATCCTTCCAGCGAGGGTC	0.517		NaN											0	0	0	0.01441	0	54	478				
C1orf9	51430	broad.mit.edu	37	1	172526519	172526519	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:172526519T>A	uc001giq.3	+	5	859	c.543T>A	c.(541-543)GCT>GCA	p.A181A	C1orf9_uc010pmm.1_Silent_p.A181A|C1orf9_uc009wwd.2_Silent_p.A144A|C1orf9_uc010pmn.1_Silent_p.A144A|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	181					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ATGCTAGTGCTCCAATTGAAC	0.433		NaN											0	0	0	0.01441	0	169	75				
DARS2	55157	broad.mit.edu	37	1	173810010	173810010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:173810010G>C	uc001gjh.1	+	11	1437	c.1027G>C	c.(1027-1029)GAT>CAT	p.D343H		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	343					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	CCAGATTATAGATATCAGTGA	0.323		NaN											0	0	0	0.016723	0	12	175				
ASTN1	460	broad.mit.edu	37	1	176913088	176913088	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:176913088G>T	uc001glc.2	-	14	2528	c.2316C>A	c.(2314-2316)CCC>CCA	p.P772P	ASTN1_uc001glb.1_Silent_p.P772P|ASTN1_uc001gld.1_Silent_p.P772P|ASTN1_uc009wwx.1_Silent_p.P772P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	780					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GATTCTCCAGGGGCACAGTGG	0.512		NaN											1	0	3.45872e-05	0.004007	4.48172e-05	17	47				
SOAT1	6646	broad.mit.edu	37	1	179310346	179310346	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:179310346C>T	uc001gml.2	+	7	744	c.681C>T	c.(679-681)TTC>TTT	p.F227F	SOAT1_uc010pni.1_Silent_p.F162F|SOAT1_uc001gmm.2_Silent_p.F169F|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Silent_p.F162F	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	227					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTTCTTTTCATGATCTTCC	0.433		NaN											0	0	0	0.01441	0	57	256				
MR1	3140	broad.mit.edu	37	1	181018405	181018405	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:181018405C>G	uc001goq.1	+	2	290	c.285C>G	c.(283-285)TTC>TTG	p.F95L	MR1_uc001gop.2_Missense_Mutation_p.F95L|MR1_uc001gor.1_Missense_Mutation_p.F95L|MR1_uc001gos.1_Missense_Mutation_p.F95L|MR1_uc010pns.1_Missense_Mutation_p.F95L	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	95	Extracellular (Potential).|Ligand-binding.|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGCAGATGTTCAAGGTGGAAC	0.617		NaN											0	0	0	0.004482	0	8	44				
NCF2	4688	broad.mit.edu	37	1	183532431	183532431	+	Missense_Mutation	SNP	G	G	A	rs145970396		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:183532431G>A	uc001gqj.3	-	13	1464	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	NCF2_uc010pod.1_Missense_Mutation_p.R352W|NCF2_uc010poe.1_Missense_Mutation_p.R316W|NCF2_uc001gqk.3_Missense_Mutation_p.R397W	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	397	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TTGCTGTCCCGAGGCCGATAG	0.522		NaN											0	0	0	0.010818	0	31	104				
CAMSAP1L1	23271	broad.mit.edu	37	1	200824006	200824006	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:200824006G>C	uc001gvl.2	+	15	4188	c.3918G>C	c.(3916-3918)AAG>AAC	p.K1306N	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K1295N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K1279N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1306						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ATTCAGGCAAGAGGACGCCAA	0.343		NaN											0	0	0	0.001168	0	6	21				
ATP2B4	493	broad.mit.edu	37	1	203678495	203678495	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:203678495T>G	uc001gzw.2	+	11	2508	c.1624T>G	c.(1624-1626)TTT>GTT	p.F542V	ATP2B4_uc001gzv.2_Missense_Mutation_p.F542V|ATP2B4_uc009xaq.2_Missense_Mutation_p.F542V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	542	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGCTAGGCTTTGTCACAGA	0.512		NaN											0	0	0	0.013114	0	46	84				
FCAMR	83953	broad.mit.edu	37	1	207135777	207135777	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207135777G>A	uc001hfa.3	-	5	933	c.433C>T	c.(433-435)CTG>TTG	p.L145L	FCAMR_uc001hfb.2_Silent_p.L145L|FCAMR_uc009xca.1_Silent_p.L145L|FCAMR_uc001hfc.2_Silent_p.L120L	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	100	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GGGGGCCCCAGACGGCACCAG	0.577		NaN											0	0	0	0.004007	0	15	61				
C4BPA	722	broad.mit.edu	37	1	207286412	207286412	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207286412A>C	uc001hfo.2	+	2	236	c.42A>C	c.(40-42)AAA>AAC	p.K14N		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	14					complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TTCATAGAAAAAGGAAAATGG	0.453		NaN											0	0	0	0.005443	0	27	29				
CD34	947	broad.mit.edu	37	1	208072532	208072532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:208072532G>C	uc001hgw.1	-	3	560	c.302C>G	c.(301-303)TCA>TGA	p.S101*	CD34_uc001hgx.1_Nonsense_Mutation_p.S101*|CD34_uc010psj.1_Intron	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	101	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						TCCATAAACTGAGGTTATCAC	0.448		NaN											0	0	0	0.007291	0	28	191				
USH2A	7399	broad.mit.edu	37	1	216052273	216052273	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:216052273T>A	uc001hku.1	-	42	8778	c.8391A>T	c.(8389-8391)TCA>TCT	p.S2797S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2797	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTACCCCCTGAGCAAGCAA	0.448		NaN								HNSCC(13;0.011)			0	0	0	0.010729	0	10	53				
TP53BP2	7159	broad.mit.edu	37	1	223976866	223976866	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:223976866G>A	uc010pvb.1	-	16	3299	c.3007C>T	c.(3007-3009)CAT>TAT	p.H1003Y	TP53BP2_uc001hod.2_Missense_Mutation_p.H874Y|TP53BP2_uc010puz.1_Missense_Mutation_p.H236Y|TP53BP2_uc010pva.1_Missense_Mutation_p.H642Y	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	997	ANK 2.|Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACAATGTAATGGAGTC	0.458		NaN											0	0	0	0.012319	0	19	88				
SIPA1L2	57568	broad.mit.edu	37	1	232596869	232596869	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:232596869C>T	uc001hvg.2	-	8	3017	c.2859G>A	c.(2857-2859)CTG>CTA	p.L953L	SIPA1L2_uc001hvf.2_Silent_p.L27L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	953	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGTTCCTCCTCAGGGTCATTT	0.562		NaN											0	0	0	0.01441	0	93	199				
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:234452365C>T	uc001hwa.1	+	4	867	c.639C>T	c.(637-639)CTC>CTT	p.L213L	SLC35F3_uc001hvy.1_Silent_p.L282L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	213	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577		NaN											0	0	0	0.01441	0	228	429				
PLD5	200150	broad.mit.edu	37	1	242383316	242383316	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:242383316C>A	uc001hzn.1	-	5	836	c.709G>T	c.(709-711)GGT>TGT	p.G237C	PLD5_uc001hzl.3_Missense_Mutation_p.G175C|PLD5_uc001hzm.3_Missense_Mutation_p.G27C|PLD5_uc001hzo.1_Missense_Mutation_p.G145C			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	237	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCAAACCGGCACTGCCG	0.517		NaN											1	0	0.000602214	0.014758	0.000762437	5	43				
ZNF124	7678	broad.mit.edu	37	1	247323035	247323035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:247323035G>C	uc001ick.2	-	2	250	c.111C>G	c.(109-111)CTC>CTG	p.L37L	ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Silent_p.L37L	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CGTCTCTATAGAGATTCTTCT	0.418		NaN											0	0	0	0.013726	0	33	61				
OR2AK2	391191	broad.mit.edu	37	1	248129260	248129260	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:248129260G>A	uc010pzd.1	+	1	627	c.627G>A	c.(625-627)CAG>CAA	p.Q209Q	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	209	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACACCTCCCAGTATGAGTATA	0.443		NaN											0	0	0	0.004007	0	17	28				
MAPK8	5599	broad.mit.edu	37	10	49633979	49633979	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:49633979C>G	uc009xnz.2	+	8	961	c.737C>G	c.(736-738)CCT>CGT	p.P246R	MAPK8_uc001jgl.2_Missense_Mutation_p.P246R|MAPK8_uc001jgm.2_Missense_Mutation_p.P246R|MAPK8_uc001jgo.2_Missense_Mutation_p.P246R|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.P246R|MAPK8_uc010qgk.1_Missense_Mutation_p.P246R|MAPK8_uc001jgp.2_Missense_Mutation_p.P246R|MAPK8_uc001jgq.2_Missense_Mutation_p.P246R	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	246	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACACCATGTCCTGAATTCATG	0.343		NaN											0	0	0	0.020292	0	13	18				
CTNNA3	29119	broad.mit.edu	37	10	67829226	67829226	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:67829226C>T	uc009xpn.1	-	15	2122	c.1999G>A	c.(1999-2001)GAG>AAG	p.E667K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E667K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	667					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTTTCTGCCTCAGGCAGTTGA	0.348		NaN											0	0	0	0.001984	0	6	34				
HNRNPH3	3189	broad.mit.edu	37	10	70099239	70099239	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:70099239C>T	uc001jnw.3	+	6	795	c.566C>T	c.(565-567)TCA>TTA	p.S189L	HNRNPH3_uc001jnx.3_Missense_Mutation_p.S174L|HNRNPH3_uc009xpu.2_Missense_Mutation_p.S58L|HNRNPH3_uc010qiv.1_Missense_Mutation_p.S81L|HNRNPH3_uc001jny.3_Missense_Mutation_p.S140L	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	189	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GATGCAAGTTCAGGTTTTCAT	0.378		NaN											0	0	0	0.006122	0	17	35				
ADAMTS14	140766	broad.mit.edu	37	10	72520585	72520585	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:72520585C>T	uc001jrh.2	+	22	3648	c.3648C>T	c.(3646-3648)CTC>CTT	p.L1216L	ADAMTS14_uc001jrg.2_Silent_p.L1219L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1216	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCACCAGCCTCCCTGCTGCCT	0.637		NaN											0	0	0	0.006122	0	18	23				
CDH23	64072	broad.mit.edu	37	10	73567089	73567089	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:73567089C>T	uc001jrx.3	+	56	8611	c.8234C>T	c.(8233-8235)ACC>ATC	p.T2745I	CDH23_uc001jsg.3_Missense_Mutation_p.T505I|CDH23_uc001jsh.3_Missense_Mutation_p.T505I|CDH23_uc001jsi.3_Missense_Mutation_p.T505I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2745	Cadherin 26.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCACGCGGCACCCTCGTGGGC	0.627		NaN											0	0	0	0.003163	0	16	17				
KIF20B	9585	broad.mit.edu	37	10	91477195	91477195	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:91477195C>G	uc001kgs.1	+	10	1139	c.1067C>G	c.(1066-1068)ACT>AGT	p.T356S	KIF20B_uc001kgr.1_Missense_Mutation_p.T356S	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	356	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						AGCATATTCACTGTTAAAATA	0.254		NaN											0	0	0	0.004672	0	2	4				
ZNF518A	9849	broad.mit.edu	37	10	97919098	97919098	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:97919098G>C	uc001klp.2	+	6	3876	c.3019G>C	c.(3019-3021)GAG>CAG	p.E1007Q	ZNF518A_uc001klo.1_Missense_Mutation_p.E477Q|ZNF518A_uc001klq.2_Missense_Mutation_p.E1007Q|ZNF518A_uc001klr.2_Missense_Mutation_p.E1007Q	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTGACTAAGGAGCCTTGCAA	0.433		NaN											0	0	0	0.004672	0	3	23				
LCOR	84458	broad.mit.edu	37	10	98715326	98715326	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:98715326G>C	uc001kms.1	+	8	1470	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	LCOR_uc001kmr.2_Missense_Mutation_p.E317Q|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E317Q|LCOR_uc001kmu.1_Missense_Mutation_p.E317Q	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	317						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTCAGATGCTGAGCAGTCTAC	0.483		NaN											0	0	0	0.004007	0	15	11				
RRP12	23223	broad.mit.edu	37	10	99160977	99160977	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:99160977C>T	uc001knf.2	-	1	151	c.12G>A	c.(10-12)TCG>TCA	p.S4S	RRP12_uc010qou.1_Silent_p.S4S|RRP12_uc009xvn.2_Silent_p.S4S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	4						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAACTTTCCCGAGCGACCCA	0.587		NaN											0	0	0	0.006122	0	16	44				
PKD2L1	9033	broad.mit.edu	37	10	102057272	102057272	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:102057272G>A	uc001kqx.1	-	5	1206	c.823C>T	c.(823-825)CCA>TCA	p.P275S	PKD2L1_uc009xwm.1_Missense_Mutation_p.P228S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	275	Extracellular (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGGGATCCTGGAAGGTCCAGG	0.617		NaN											0	0	0	0.007291	0	27	43				
CPXM2	119587	broad.mit.edu	37	10	125506529	125506529	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:125506529G>T	uc001lhk.1	-	14	2347	c.2022C>A	c.(2020-2022)AAC>AAA	p.N674K	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	674					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AATCCCCATCGTTGGCTGTGA	0.552		NaN											1	0	3.28513e-13	0.021523	4.48859e-13	24	208				
IFITM3	10410	broad.mit.edu	37	11	319922	319922	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:319922C>T	uc001lpa.2	-	2	419	c.318G>A	c.(316-318)CTG>CTA	p.L106L	uc001loz.2_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	interferon-induced transmembrane protein 3	106	Cytoplasmic (Potential).				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)	7		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGATGTTCAGGCACTTGG	0.587		NaN											0	0	0	0.01441	0	48	48				
OR51I2	390064	broad.mit.edu	37	11	5474803	5474803	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:5474803G>T	uc010qzf.1	+	1	85	c.85G>T	c.(85-87)GGG>TGG	p.G29W	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGTCAGGGCCCCTCTG	0.547		NaN											1	0	9.31168e-06	0.016723	1.21418e-05	12	31				
NLRP10	338322	broad.mit.edu	37	11	7984932	7984932	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:7984932C>T	uc001mfv.1	-	1	128	c.111G>A	c.(109-111)CTG>CTA	p.L37L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	37	DAPIN.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCCTCAGACAGGGTCATAT	0.542		NaN											0	0	0	0.016522	0	25	52				
RIC3	79608	broad.mit.edu	37	11	8132430	8132430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:8132430C>A	uc001mgd.2	-	6	979	c.925G>T	c.(925-927)GAA>TAA	p.E309*	RIC3_uc001mgb.2_Nonsense_Mutation_p.E147*|RIC3_uc001mgc.2_Nonsense_Mutation_p.E308*|RIC3_uc001mge.2_Nonsense_Mutation_p.E127*|RIC3_uc010rbl.1_Nonsense_Mutation_p.E259*|RIC3_uc010rbm.1_Nonsense_Mutation_p.E337*|RIC3_uc009yfm.2_Nonsense_Mutation_p.E228*|RIC3_uc009yfn.2_Nonsense_Mutation_p.E112*	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	309	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCCTCGTCTTCATGAAAACAG	0.493		NaN											1	0	1.60099e-16	0.021022	2.21675e-16	36	78				
MICALCL	84953	broad.mit.edu	37	11	12315578	12315578	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:12315578G>C	uc001mkg.1	+	3	891	c.600G>C	c.(598-600)GAG>GAC	p.E200D		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	200					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CCATCCCTGAGAGTGTGCACC	0.537		NaN											0	0	0	0.010818	0	31	85				
DBX1	120237	broad.mit.edu	37	11	20178727	20178727	+	Silent	SNP	C	C	T	rs143300593	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:20178727C>T	uc001mpw.1	-	3	528	c.528G>A	c.(526-528)GGG>GGA	p.G176G		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	176					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCGAGGCTTCCCGCGCGCGG	0.682		NaN											0	0	0	0.001168	0	6	10				
QSER1	79832	broad.mit.edu	37	11	32955355	32955355	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:32955355A>G	uc001mty.2	+	4	2431	c.2164A>G	c.(2164-2166)AAT>GAT	p.N722D	QSER1_uc001mtz.1_Missense_Mutation_p.N483D|QSER1_uc001mua.2_Missense_Mutation_p.N227D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	722	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ATCTCTTCCTAATACACAGGT	0.413		NaN											0	0	0	0.00308	0	8	21				
C11orf74	119710	broad.mit.edu	37	11	36654908	36654908	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:36654908C>T	uc001mwy.1	+	3	284	c.211C>T	c.(211-213)CAT>TAT	p.H71Y	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	71											0	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAAAGTTACTCATAAAAATGA	0.338		NaN											0	0	0	0.001168	0	5	24				
ZNF408	79797	broad.mit.edu	37	11	46726955	46726955	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:46726955C>T	uc001nde.1	+	5	1935	c.1705C>T	c.(1705-1707)CAC>TAC	p.H569Y	ZNF408_uc010rgw.1_Missense_Mutation_p.H561Y	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	569	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GCTCCGAGCTCACGAGCGCCT	0.657		NaN											0	0	0	0.001984	0	6	30				
PSMC3	5702	broad.mit.edu	37	11	47444417	47444417	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47444417C>G	uc001nfh.2	-	7	893	c.699G>C	c.(697-699)AAG>AAC	p.K233N	PSMC3_uc009ylr.1_Missense_Mutation_p.K191N	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	233	ATP (Potential).			K->H: Loss of function.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGGAGGGTCTTCCCCGTCC	0.582		NaN											0	0	0	0.006214	0	8	198				
NUP160	23279	broad.mit.edu	37	11	47819815	47819815	+	Splice_Site	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47819815C>A	uc001ngm.2	-	25	3077	c.2992_splice	c.e25-1	p.A998_splice	NUP160_uc009ylw.2_Splice_Site	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TTAGAGTAGCCTAAATATCAA	0.353		NaN											1	0	0.000157383	0.00308	0.000202036	8	40				
OR5T1	390155	broad.mit.edu	37	11	56043764	56043764	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:56043764C>A	uc001nio.1	+	1	650	c.650C>A	c.(649-651)TCT>TAT	p.S217Y		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTTGTGGGCTCTATTGAGATA	0.408		NaN											1	0	1.96292e-10	0.010504	2.65572e-10	21	97				
CLP1	10978	broad.mit.edu	37	11	57427259	57427259	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57427259G>A	uc001nkw.2	+	2	450	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	CLP1_uc010rjw.1_Missense_Mutation_p.R104Q|CLP1_uc009yml.2_Missense_Mutation_p.R104Q	NM_006831	NP_006822	Q92989	CLP1_HUMAN	ATP/GTP-binding protein isoform 1	104					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1						GAACAGATGCGGAGGCAAGCG	0.547		NaN											0	0	0	0.021523	0	27	61				
CTNND1	1500	broad.mit.edu	37	11	57569394	57569394	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57569394C>G	uc001nmc.3	+	7	1717	c.1146C>G	c.(1144-1146)GTC>GTG	p.V382V	CTNND1_uc001nlh.1_Silent_p.V382V|CTNND1_uc001nlu.3_Silent_p.V281V|CTNND1_uc001nlt.3_Silent_p.V281V|CTNND1_uc001nls.3_Silent_p.V281V|CTNND1_uc001nlw.3_Silent_p.V281V|CTNND1_uc001nmf.3_Silent_p.V382V|CTNND1_uc001nmd.3_Silent_p.V328V|CTNND1_uc001nlk.3_Silent_p.V328V|CTNND1_uc001nme.3_Silent_p.V382V|CTNND1_uc001nll.3_Silent_p.V328V|CTNND1_uc001nmg.3_Silent_p.V328V|CTNND1_uc001nlj.3_Silent_p.V328V|CTNND1_uc001nlr.3_Silent_p.V328V|CTNND1_uc001nlp.3_Silent_p.V328V|CTNND1_uc001nlx.3_Silent_p.V59V|CTNND1_uc001nlz.3_Silent_p.V59V|CTNND1_uc009ymn.2_Silent_p.V59V|CTNND1_uc001nlm.3_Silent_p.V382V|CTNND1_uc001nly.3_Silent_p.V59V|CTNND1_uc001nmb.3_Silent_p.V59V|CTNND1_uc001nma.3_Silent_p.V59V|CTNND1_uc001nmi.3_Silent_p.V281V|CTNND1_uc001nmh.3_Silent_p.V382V|CTNND1_uc001nlq.3_Silent_p.V281V|CTNND1_uc001nln.3_Silent_p.V382V|CTNND1_uc001nli.3_Silent_p.V382V|CTNND1_uc001nlo.3_Silent_p.V281V|CTNND1_uc001nlv.3_Silent_p.V281V	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	382	ARM 1.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TGGATGCTGTCAAGTCCAATG	0.552		NaN											0	0	0	0.004007	0	16	94				
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Missense_Mutation	SNP	C	C	G	rs139135884	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57947582C>G	uc001nmj.2	+	3	982	c.666C>G	c.(664-666)ATC>ATG	p.I222M		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512		NaN											0	0	0	0.008361	0	26	93				
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:60703933C>T	uc001nqj.2	+	11	2819	c.2626C>T	c.(2626-2628)CAG>TAG	p.Q876*	TMEM132A_uc001nqi.2_Nonsense_Mutation_p.Q877*|TMEM132A_uc001nqm.2_Nonsense_Mutation_p.Q86*	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	876	Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CCTGCGCTATCAGCGCAAAGA	0.607		NaN											0	0	0	0.01441	0	55	233				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Silent	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:61161357T>G	uc010rlj.1	+	3	410	c.117T>G	c.(115-117)GGT>GGG	p.G39G	TMEM216_uc001nrn.1_5'UTR	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane					0						TATTGGCAGGTGTCCTGCTAC	0.438		NaN											0	0	0	0.010818	0	17	67				
DAGLA	747	broad.mit.edu	37	11	61511216	61511216	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:61511216G>A	uc001nsa.2	+	20	2495	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	795	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TTCGACTCGCGCCGCTCCTCA	0.682		NaN											0	0	0	0.010818	0	33	126				
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:62364201C>T	uc001ntq.1	-	9	1171	c.790G>A	c.(790-792)GAG>AAG	p.E264K	MTA2_uc010rlx.1_Missense_Mutation_p.E91K	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	264	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCCTCCATCTCATCCCGACAC	0.537		NaN											0	0	0	0.01441	0	69	142				
PYGM	5837	broad.mit.edu	37	11	64522956	64522956	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64522956C>A	uc001oax.3	-	6	1552	c.735G>T	c.(733-735)TGG>TGT	p.W245C	PYGM_uc001oay.3_Missense_Mutation_p.W157C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	245					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CCTTGGCAGACCAGAGGCGCA	0.622		NaN											1	0	9.31168e-06	0.016723	1.21418e-05	12	85				
MAP4K2	5871	broad.mit.edu	37	11	64557220	64557220	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64557220C>T	uc001obh.2	-	31	2449	c.2357G>A	c.(2356-2358)CGA>CAA	p.R786Q	MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R778Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	786	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CCCAAGCACTCGGAAGATCCT	0.592		NaN											0	0	0	0.00632	0	25	123				
C11orf2	738	broad.mit.edu	37	11	64875784	64875784	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64875784G>C	uc001ocr.1	+	5	881	c.841G>C	c.(841-843)GAG>CAG	p.E281Q	C11orf2_uc001ocs.1_Missense_Mutation_p.E157Q	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	281	Potential.				lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CGGCCGGCTGGAGAAGGAGCT	0.706		NaN											0	0	0	0.004482	0	8	45				
CDC42EP2	10435	broad.mit.edu	37	11	65088417	65088417	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:65088417C>T	uc001odl.2	+	2	498	c.48C>T	c.(46-48)GGC>GGT	p.G16G		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	16					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0						GTCGCAAGGGCAAGAAGGAGA	0.627		NaN											0	0	0	0.001168	0	6	58				
PC	5091	broad.mit.edu	37	11	66619932	66619932	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:66619932G>C	uc001ojn.1	-	13	1852	c.1803C>G	c.(1801-1803)CTC>CTG	p.L601L	PC_uc001ojo.1_Silent_p.L601L|PC_uc001ojp.1_Silent_p.L601L|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	601	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCATGCTGAAGAGCTTGCTGA	0.622		NaN											0	0	0	0.001984	0	7	139				
CABP4	57010	broad.mit.edu	37	11	67223786	67223786	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:67223786C>T	uc001olo.2	+	3	491	c.414C>T	c.(412-414)TTC>TTT	p.F138F	CABP4_uc001oln.2_Silent_p.F33F	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	138	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGCCGCCTTCGAGGAGTTTG	0.652		NaN											0	0	0	0.012213	0	29	163				
NUMA1	4926	broad.mit.edu	37	11	71726086	71726086	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71726086C>A	uc001orl.1	-	15	2635	c.2463G>T	c.(2461-2463)CAG>CAT	p.Q821H	NUMA1_uc009ysw.1_Missense_Mutation_p.Q384H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.Q821H|NUMA1_uc001orn.2_Missense_Mutation_p.Q384H|NUMA1_uc009ysx.1_Missense_Mutation_p.Q821H|NUMA1_uc001oro.1_Missense_Mutation_p.Q821H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	821	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCTCCTCTTGCTGGCTATCCT	0.577		NaN	T	RARA	APL								1	0	1.99505e-19	0.012213	2.7951e-19	33	255				
FOLR2	2350	broad.mit.edu	37	11	71932735	71932735	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71932735G>C	uc009ytd.2	+	5	866	c.697G>C	c.(697-699)GAG>CAG	p.E233Q	FOLR2_uc009yte.2_Missense_Mutation_p.E233Q|FOLR2_uc001ose.3_Missense_Mutation_p.E233Q|FOLR2_uc009ytf.2_Missense_Mutation_p.E233Q	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	233					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	GAATGCTGGTGAGATGCTTCA	0.587		NaN											0	0	0	0.013537	0	13	161				
ARRB1	408	broad.mit.edu	37	11	74977287	74977287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:74977287G>A	uc001owe.1	-	16	1399	c.1177C>T	c.(1177-1179)CGC>TGC	p.R393C	ARRB1_uc001owf.1_Missense_Mutation_p.R385C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	393	Interaction with TRAF6.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.			R->A: Abolishes interaction with AP2B1.	G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						AGTCTCTGGCGAGCAAAGTCC	0.547		NaN											0	0	0	0.00632	0	28	152				
FAT3	120114	broad.mit.edu	37	11	92533025	92533025	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:92533025C>A	uc001pdj.3	+	9	6863	c.6846C>A	c.(6844-6846)GAC>GAA	p.D2282E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2282	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTAAATGACAACCCCCCTA	0.423		NaN								TCGA Ovarian(4;0.039)			1	0	0.00024832	0.009096	0.000317298	4	14				
CASP5	838	broad.mit.edu	37	11	104877904	104877904	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:104877904C>T	uc010rva.1	-	3	371	c.339G>A	c.(337-339)CTG>CTA	p.L113L	CASP5_uc010ruz.1_Silent_p.L126L|CASP5_uc010rvb.1_Silent_p.L55L|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	113	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTACCAAGATCAGGGCCTTGT	0.368		NaN											0	0	0	0.013537	0	12	26				
RDX	5962	broad.mit.edu	37	11	110128893	110128893	+	Silent	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:110128893T>G	uc001pku.2	-	6	799	c.489A>C	c.(487-489)CTA>CTC	p.L163L	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.L163L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Silent_p.L131L|RDX_uc010rwe.1_Silent_p.L27L	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	163	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTTCTTTTGTTAGTTTGTGTT	0.294		NaN											0	0	0	0.008291	0	9	34				
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:116633707G>A	uc001ppn.2	-	4	632	c.598C>T	c.(598-600)CCT>TCT	p.P200S	BUD13_uc001ppo.2_Missense_Mutation_p.P200S|BUD13_uc009yzc.2_Missense_Mutation_p.P200S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	200	Arg-rich.									large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567		NaN											0	0	0	0.005524	0	38	115				
SIDT2	51092	broad.mit.edu	37	11	117052804	117052804	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:117052804A>T	uc001pqh.1	+	4	540	c.499A>T	c.(499-501)ACA>TCA	p.T167S	SIDT2_uc010rxe.1_Missense_Mutation_p.T167S|SIDT2_uc001pqg.2_Missense_Mutation_p.T167S|SIDT2_uc001pqi.1_Missense_Mutation_p.T167S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	167	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTTCAATACCACAGCAGCACA	0.597		NaN											0	0	0	0.00308	0	6	23				
CCDC84	338657	broad.mit.edu	37	11	118881534	118881534	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:118881534C>T	uc001pul.2	+	4	500	c.444C>T	c.(442-444)ATC>ATT	p.I148I	CCDC84_uc010ryk.1_RNA|CCDC84_uc010ryl.1_RNA|CCDC84_uc010rym.1_RNA	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	148	Potential.									ovary(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ATAAAGTGATCAAGGAGGTAA	0.234		NaN											0	0	0	0.00308	0	7	41				
TECTA	7007	broad.mit.edu	37	11	121016422	121016422	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:121016422G>T	uc010rzo.1	+	11	3702	c.3702G>T	c.(3700-3702)CAG>CAT	p.Q1234H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1234	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGCATGCAGAACAGCACCT	0.527		NaN											1	0	1.15919e-05	0.008871	1.50913e-05	20	71				
OR8B4	283162	broad.mit.edu	37	11	124294480	124294480	+	Silent	SNP	A	A	G	rs142136468		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:124294480A>G	uc010sak.1	-	1	288	c.288T>C	c.(286-288)TGT>TGC	p.C96C		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCTGAGTCATACATCCCACAT	0.403		NaN											0	0	0	0.006214	0	10	37				
OPCML	4978	broad.mit.edu	37	11	132812893	132812893	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:132812893C>A	uc001qgs.2	-	1	145	c.95G>T	c.(94-96)CGC>CTC	p.R32L	OPCML_uc001qgu.2_Missense_Mutation_p.R25L|OPCML_uc010sck.1_Missense_Mutation_p.R32L|OPCML_uc001qgt.2_Missense_Mutation_p.R32L|OPCML_uc010scl.1_5'UTR	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	32					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATCTCCGCTGCGCACGGGCAC	0.647		NaN											1	0	1.3268e-25	0.01441	1.87154e-25	54	30				
ERC1	23085	broad.mit.edu	37	12	1599298	1599298	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:1599298G>A	uc001qjb.2	+	19	3494	c.3253G>A	c.(3253-3255)GAA>AAA	p.E1085K	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E1057K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_3'UTR|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	1085	Potential.|FIP-RBD.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACAATGCAGAACTGCAGGA	0.483		NaN											0	0	0	0.006999	0	38	78				
PRMT8	56341	broad.mit.edu	37	12	3649850	3649850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:3649850C>G	uc001qmf.2	+	2	521	c.154C>G	c.(154-156)CAA>GAA	p.Q52E	PRMT8_uc009zed.2_Missense_Mutation_p.Q43E|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	52					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGTCCACTCAACCCAGCTG	0.602		NaN											0	0	0	0.01441	0	54	339				
C12orf4	57102	broad.mit.edu	37	12	4599751	4599751	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:4599751G>A	uc001qms.2	-	13	1591	c.1503C>T	c.(1501-1503)TTC>TTT	p.F501F	C12orf4_uc001qmt.2_Silent_p.F501F	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	501											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTTCCATCATGAAACCTAAAA	0.388		NaN											0	0	0	0.00308	0	7	24				
VWF	7450	broad.mit.edu	37	12	6143929	6143929	+	Silent	SNP	G	G	A	rs141982646	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6143929G>A	uc001qnn.1	-	20	2860	c.2610C>T	c.(2608-2610)ATC>ATT	p.I870I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	870	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGGCCATGCCGATCGTGGAGC	0.587		NaN											0	0	0	0.010504	0	19	74				
IFFO1	25900	broad.mit.edu	37	12	6664602	6664602	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6664602C>T	uc001qpd.1	-	1	628	c.594G>A	c.(592-594)TCG>TCA	p.S198S	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.S198S|IFFO1_uc001qpf.1_Silent_p.S198S|IFFO1_uc001qpc.1_Silent_p.S198S	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	198						intermediate filament					0						CGTGCGAGAACGACCAGATGG	0.612		NaN											0	0	0	0.014758	0	5	34				
ACRBP	84519	broad.mit.edu	37	12	6749264	6749264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6749264C>G	uc001qpu.1	-	8	1435	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.E430Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	463						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						CTAAGGAACTCAGTCTGGAGC	0.562		NaN											0	0	0	0.020292	0	12	65				
NANOG	79923	broad.mit.edu	37	12	7942264	7942264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:7942264C>G	uc009zfy.1	+	1	270	c.54C>G	c.(52-54)GAC>GAG	p.D18E		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	18					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				Kidney(36;0.0872)		AAGCATCCGACTGTAAAGAAT	0.453		NaN											0	0	0	0.016522	0	22	112				
A2ML1	144568	broad.mit.edu	37	12	8988223	8988223	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:8988223G>A	uc001quz.3	+	6	702	c.604G>A	c.(604-606)GAG>AAG	p.E202K		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	46						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGCAGTGGCTGAGGGCAAGAC	0.507		NaN											0	0	0	0.021523	0	23	74				
MANSC1	54682	broad.mit.edu	37	12	12483751	12483751	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:12483751C>G	uc001rai.1	-	4	764	c.506G>C	c.(505-507)AGA>ACA	p.R169T	MANSC1_uc010shm.1_Missense_Mutation_p.R103T|MANSC1_uc001raj.1_Missense_Mutation_p.R135T|MANSC1_uc009zht.1_Missense_Mutation_p.R88T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	169	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AAGTGTGTCTCTCCATGAGAT	0.448		NaN											0	0	0	0.00499	0	16	100				
GSG1	83445	broad.mit.edu	37	12	13240941	13240941	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13240941G>A	uc001rbn.2	-	5	707	c.534C>T	c.(532-534)TTC>TTT	p.F178F	GSG1_uc001rbj.2_Silent_p.F142F|GSG1_uc001rbk.2_Missense_Mutation_p.H184Y|GSG1_uc001rbl.2_Intron|GSG1_uc001rbm.2_Intron|GSG1_uc001rbo.2_Missense_Mutation_p.H220Y|GSG1_uc001rbp.2_Silent_p.F155F|GSG1_uc001rbq.1_Missense_Mutation_p.H220Y	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	165	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGAAGCTGATGAATTGAAGTC	0.512		NaN											0	0	0	0.004656	0	22	141				
GRIN2B	2904	broad.mit.edu	37	12	13768066	13768066	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13768066A>T	uc001rbt.2	-	7	1815	c.1636T>A	c.(1636-1638)TCA>ACA	p.S546T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	546	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGAAGGTGAGACAGTCCCA	0.498		NaN											0	0	0	0.015359	0	32	76				
ERP27	121506	broad.mit.edu	37	12	15073907	15073907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:15073907C>A	uc001rco.2	-	4	430	c.409G>T	c.(409-411)GAG>TAG	p.E137*		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	137	Thioredoxin.					endoplasmic reticulum lumen				breast(1)	1						CTGTTGATCTCAATGAAACGG	0.438		NaN											1	0	0.000602214	0.014758	0.000762437	5	65				
SOX5	6660	broad.mit.edu	37	12	23893833	23893833	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:23893833G>T	uc001rfw.2	-	5	811	c.709C>A	c.(709-711)CAA>AAA	p.Q237K	SOX5_uc001rfx.2_Missense_Mutation_p.Q224K|SOX5_uc001rfy.2_Missense_Mutation_p.Q224K|SOX5_uc010siv.1_Missense_Mutation_p.Q224K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.Q189K	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	237	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						AGCTCCATTTGCTGACGCTGT	0.498		NaN											1	0	0.00198382	0.001984	0.00250015	7	57				
TM7SF3	51768	broad.mit.edu	37	12	27148173	27148173	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:27148173G>A	uc010sjl.1	-	5	925	c.687C>T	c.(685-687)CTC>CTT	p.L229L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	229						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					GATTTACCTTGAGAGCACTGG	0.468		NaN											0	0	0	0.008871	0	20	110				
C12orf35	55196	broad.mit.edu	37	12	32136973	32136973	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:32136973C>T	uc001rks.2	+	4	3498	c.3084C>T	c.(3082-3084)TCC>TCT	p.S1028S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1028										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TAGATGCATCCAGCAACTATA	0.433		NaN											0	0	0	0.009096	0	4	47				
MLL2	8085	broad.mit.edu	37	12	49446362	49446362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446362C>A	uc001rta.3	-	9	1243	c.1243G>T	c.(1243-1245)GAA>TAA	p.E415*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	415	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGTTTGGCTTCACATTGCAGG	0.547		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			1	0	0.00448238	0.004482	0.00562335	8	25		Valid		
MLL2	8085	broad.mit.edu	37	12	49446375	49446375	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446375C>G	uc001rta.3	-	9	1230	c.1230G>C	c.(1228-1230)GGG>GGC	p.G410G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	410	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATTGCAGGGGCCCTGGTTCCT	0.547		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.008291	0	10	25				
ESPL1	9700	broad.mit.edu	37	12	53679861	53679861	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53679861A>T	uc001sck.2	+	18	3432	c.3341A>T	c.(3340-3342)AAG>ATG	p.K1114M	ESPL1_uc001scj.2_Missense_Mutation_p.K789M|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1114					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						ACTGTGGCCAAGGAGCCTGGC	0.602		NaN											0	0	0	0.005524	0	39	139				
TARBP2	6895	broad.mit.edu	37	12	53899548	53899548	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53899548C>G	uc001sdo.2	+	8	1345	c.857C>G	c.(856-858)TCC>TGC	p.S286C	TARBP2_uc001sdp.2_Missense_Mutation_p.S265C|TARBP2_uc001sdq.2_Missense_Mutation_p.S142C|TARBP2_uc001sdr.2_Missense_Mutation_p.S142C|TARBP2_uc001sds.2_Silent_p.L243L|TARBP2_uc001sdt.2_Missense_Mutation_p.S265C|TARBP2_uc001sdu.2_Missense_Mutation_p.S142C|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	286	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						TCCCTGGGCTCCCTGGGTGCC	0.597		NaN											0	0	0	0.019004	0	34	123				
OR6C76	390326	broad.mit.edu	37	12	55820354	55820354	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:55820354C>T	uc010spm.1	+	1	317	c.317C>T	c.(316-318)TCA>TTA	p.S106L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCCTTGGCTCAACGGAGTTT	0.403		NaN											0	0	0	0.016723	0	14	47				
DYRK2	8445	broad.mit.edu	37	12	68052281	68052281	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:68052281C>T	uc001str.3	+	3	1996	c.1594C>T	c.(1594-1596)CAC>TAC	p.H532Y	DYRK2_uc001sts.3_Missense_Mutation_p.H459Y	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	532	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGCTTTGCGGCACCCCTGGCT	0.547		NaN											0	0	0	0.004007	0	16	447				
ZFC3H1	196441	broad.mit.edu	37	12	72014016	72014016	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:72014016C>G	uc001swo.2	-	25	5183	c.4824G>C	c.(4822-4824)ATG>ATC	p.M1608I		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1608	TPR 3.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCAGAGCAATCATGTTTGTGT	0.403		NaN											0	0	0	0.021523	0	23	364				
EEA1	8411	broad.mit.edu	37	12	93174109	93174109	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:93174109C>G	uc001tck.2	-	24	3680	c.3415G>C	c.(3415-3417)GAA>CAA	p.E1139Q		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1139	Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TTAGTGATTTCTTTTTCTTGT	0.308		NaN											0	0	0	0.001168	0	5	20				
STAB2	55576	broad.mit.edu	37	12	104096936	104096936	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:104096936A>G	uc001tjw.2	+	35	3911	c.3725A>G	c.(3724-3726)AAT>AGT	p.N1242S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1242	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTCTATGTAAATGAGGCTCCA	0.373		NaN											0	0	0	0.008871	0	20	48				
C12orf45	121053	broad.mit.edu	37	12	105388290	105388290	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:105388290C>G	uc001tlb.2	+	4	407	c.374C>G	c.(373-375)TCA>TGA	p.S125*		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	125											0						CAGTCGGATTCAAAAGAAGTG	0.294		NaN											0	0	0	0.012319	0	22	30				
ANKRD13A	88455	broad.mit.edu	37	12	110456242	110456242	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:110456242G>C	uc001tpx.2	+	5	752	c.493G>C	c.(493-495)GAA>CAA	p.E165Q	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.E165Q|ANKRD13A_uc010sxw.1_Missense_Mutation_p.E165Q	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	165											0						GCTGGGATTTGAAAACATGAG	0.443		NaN											0	0	0	0.013537	0	11	69				
RPH3A	22895	broad.mit.edu	37	12	113314469	113314469	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113314469G>A	uc010syl.1	+	13	1331	c.969G>A	c.(967-969)GGG>GGA	p.G323G	RPH3A_uc001ttz.2_Silent_p.G323G|RPH3A_uc001tty.2_Silent_p.G319G|RPH3A_uc009zwe.1_Silent_p.G319G|RPH3A_uc010sym.1_Silent_p.G274G|RPH3A_uc001tua.2_Silent_p.G83G	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	323	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGACCCTGGGACCACTGCCC	0.527		NaN											0	0	0	0.00308	0	7	17				
DDX54	79039	broad.mit.edu	37	12	113600964	113600964	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113600964C>T	uc001tup.2	-	16	2082	c.2054G>A	c.(2053-2055)CGG>CAG	p.R685Q	DDX54_uc001tuq.3_Missense_Mutation_p.R685Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	685					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GTCCTTGGGCCGGTAGGGGAT	0.662		NaN											0	0	0	0.009718	0	42	20				
RPLP0	6175	broad.mit.edu	37	12	120635157	120635157	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:120635157C>G	uc001txp.2	-	7	997	c.760G>C	c.(760-762)GAG>CAG	p.E254Q	GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.E254Q|RPLP0_uc001txr.2_Missense_Mutation_p.E192Q	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	254					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATCCGTCTCCACAGACAAG	0.507		NaN											0	0	0	0.014323	0	21	105				
HPD	3242	broad.mit.edu	37	12	122286936	122286936	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:122286936G>T	uc001ubj.2	-	9	605	c.565C>A	c.(565-567)CCT>ACT	p.P189T	HPD_uc001ubk.2_Missense_Mutation_p.P150T	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	189					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTGATCAGGCTGGTTTCCC	0.602		NaN											1	0	2.68362e-12	0.013537	3.66069e-12	12	89				
HIP1R	9026	broad.mit.edu	37	12	123343743	123343743	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123343743A>T	uc001udj.1	+	22	2353	c.2294A>T	c.(2293-2295)CAG>CTG	p.Q765L	HIP1R_uc001udk.1_Missense_Mutation_p.Q30L	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	765					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCTGGGCCAGGTGAGGCAC	0.652		NaN											0	0	0	0.014758	0	4	6				
PITPNM2	57605	broad.mit.edu	37	12	123494488	123494488	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123494488G>A	uc001uej.1	-	5	691	c.552C>T	c.(550-552)GTC>GTT	p.V184V	PITPNM2_uc001uek.1_Silent_p.V184V|PITPNM2_uc009zxu.1_Silent_p.V184V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	184					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGATGGGGAAGACCTGCTTCT	0.562		NaN											0	0	0	0.01441	0	55	190				
CHFR	55743	broad.mit.edu	37	12	133428240	133428241	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:133428240_133428241CC>GT	uc001ulf.2	-	12	1575_1576	c.1491_1492GG>AC	c.(1489-1494)GCGGAG>GCACAG	p.E498Q	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.E486Q|CHFR_uc010tbs.1_Missense_Mutation_p.E497Q|CHFR_uc001uld.2_Missense_Mutation_p.E457Q|CHFR_uc010tbt.1_Missense_Mutation_p.E406Q	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	498					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGCTCGCGCTCCGCTCTCCGGT	0.644		NaN											0	0	0	0.004672	0	38	181				
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23907016G>A	uc001uon.2	-	10	11588	c.10999C>T	c.(10999-11001)CAT>TAT	p.H3667Y	SACS_uc001uoo.2_Missense_Mutation_p.H3520Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3667					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383		NaN											0	0	0	0.001168	0	6	27				
SACS	26278	broad.mit.edu	37	13	23914840	23914840	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23914840C>G	uc001uon.2	-	10	3764	c.3175G>C	c.(3175-3177)GAA>CAA	p.E1059Q	SACS_uc001uoo.2_Missense_Mutation_p.E912Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1059					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTAGTACTTCTATATCAGGG	0.383		NaN											0	0	0	0.016522	0	25	102				
FAM123A	219287	broad.mit.edu	37	13	25744587	25744587	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:25744587C>G	uc001uqb.2	-	1	1271	c.1171G>C	c.(1171-1173)GAG>CAG	p.E391Q	FAM123A_uc001uqa.2_Missense_Mutation_p.E272Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E272Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	391										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGACCTGCCTCTTCCTCTTGG	0.532		NaN											0	0	0	0.012319	0	21	103				
GPR12	2835	broad.mit.edu	37	13	27333290	27333290	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:27333290C>A	uc010aal.2	-	2	897	c.675G>T	c.(673-675)ATG>ATT	p.M225I	GPR12_uc010tdl.1_Missense_Mutation_p.M66I	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	225	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGCGTGCCTCATCACAATCT	0.567		NaN											1	0	1.06647e-15	0.017118	1.47173e-15	37	36				
NBEA	26960	broad.mit.edu	37	13	35926317	35926317	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:35926317T>C	uc001uvb.2	+	38	6242	c.6036T>C	c.(6034-6036)GCT>GCC	p.A2012A	NBEA_uc010abi.2_Silent_p.A668A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2012						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATGCTGCTGATAGAAGAG	0.328		NaN											0	0	0	0.014758	0	5	5				
DCLK1	9201	broad.mit.edu	37	13	36428670	36428670	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:36428670G>A	uc001uvf.2	-	6	1234	c.1001C>T	c.(1000-1002)TCA>TTA	p.S334L	DCLK1_uc001uve.3_Missense_Mutation_p.S27L|DCLK1_uc010teh.1_Missense_Mutation_p.S27L|DCLK1_uc010abk.2_Missense_Mutation_p.S27L|DCLK1_uc001uvh.3_RNA	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	334	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGGTGGGTGATGGGCTTGG	0.527		NaN											0	0	0	0.017118	0	33	75				
SPERT	220082	broad.mit.edu	37	13	46287727	46287727	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:46287727C>G	uc001van.1	+	3	647	c.567C>G	c.(565-567)CTC>CTG	p.L189L	SPERT_uc001vao.2_Silent_p.L153L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	189	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACCGGATGCTCAGCAAGGAGA	0.617		NaN											0	0	0	0.020292	0	13	74				
FNDC3A	22862	broad.mit.edu	37	13	49710722	49710722	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:49710722G>A	uc001vcm.2	+	6	1050	c.745G>A	c.(745-747)GAT>AAT	p.D249N	FNDC3A_uc001vcl.1_Missense_Mutation_p.D249N|FNDC3A_uc001vcn.2_Missense_Mutation_p.D249N|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.D193N|FNDC3A_uc001vcq.2_Missense_Mutation_p.D193N	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	249						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACACAAGTTGATACAGAAAT	0.353		NaN											0	0	0	0.001168	0	6	51				
RNASEH2B	79621	broad.mit.edu	37	13	51528086	51528086	+	Missense_Mutation	SNP	A	A	G	rs150363383	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:51528086A>G	uc001vfa.3	+	10	1108	c.787A>G	c.(787-789)ACT>GCT	p.T263A	RNASEH2B_uc001vfb.3_Intron	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B isoform 1	263					RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AGAAGATTACACTAAGTTTAA	0.368		NaN											0	0	0	0.016723	0	12	8				
LECT1	11061	broad.mit.edu	37	13	53286974	53286974	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:53286974C>G	uc001vhf.2	-	5	610	c.499G>C	c.(499-501)GAA>CAA	p.E167Q	LECT1_uc001vhg.2_Missense_Mutation_p.E167Q|LECT1_uc001vhh.2_Missense_Mutation_p.E156Q	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	167	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGAGAATTTTCTTCATATTTG	0.403		NaN											0	0	0	0.01892	0	23	51				
C13orf34	79866	broad.mit.edu	37	13	73321010	73321010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73321010G>C	uc001viv.1	+	10	1362	c.1243G>C	c.(1243-1245)GAG>CAG	p.E415Q	C13orf34_uc010thq.1_Missense_Mutation_p.E190Q|C13orf34_uc010aen.1_Missense_Mutation_p.E490Q|C13orf34_uc010thr.1_Missense_Mutation_p.E345Q|C13orf34_uc001viw.1_Missense_Mutation_p.E364Q	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	415					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		CAGTGCTTCTGAGAAAGAATT	0.423		NaN											0	0	0	0.010729	0	12	36				
DIS3	22894	broad.mit.edu	37	13	73334745	73334745	+	Silent	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73334745A>G	uc001vix.3	-	20	3089	c.2715T>C	c.(2713-2715)GAT>GAC	p.D905D	DIS3_uc001viy.3_Silent_p.D875D|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	905					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTTAACTTTATCAAATACAT	0.328		NaN								Multiple Myeloma(4;0.011)			0	0	0	0.004482	0	9	36				
TBC1D4	9882	broad.mit.edu	37	13	75900527	75900527	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:75900527T>A	uc001vjl.1	-	10	2186	c.1839A>T	c.(1837-1839)ACA>ACT	p.T613T	TBC1D4_uc010aer.2_Silent_p.T613T|TBC1D4_uc010aes.2_Silent_p.T613T	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	613						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACGCTGGCGGTGTCCCTGGTG	0.587		NaN											0	0	0	0.006214	0	8	64				
STK24	8428	broad.mit.edu	37	13	99114063	99114063	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:99114063C>G	uc001vnm.1	-	8	1289	c.1054G>C	c.(1054-1056)GGA>CGA	p.G352R	STK24_uc001vnn.1_Missense_Mutation_p.G340R|STK24_uc010tim.1_Missense_Mutation_p.G321R	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	352					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGAGCTCCATTCTCGAGA	0.512		NaN											0	0	0	0.01441	0	42	208				
MYO16	23026	broad.mit.edu	37	13	109562401	109562401	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:109562401C>G	uc001vqt.1	+	16	1888	c.1762C>G	c.(1762-1764)CTT>GTT	p.L588V	MYO16_uc010agk.1_Missense_Mutation_p.L610V|MYO16_uc001vqu.1_Missense_Mutation_p.L388V|MYO16_uc010tjh.1_Missense_Mutation_p.L100V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	588	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCACAACCTCTTGGCCAGAG	0.358		NaN											0	0	0	0.004007	0	17	80				
TUBGCP3	10426	broad.mit.edu	37	13	113208461	113208461	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:113208461G>C	uc001vse.1	-	8	1063	c.876C>G	c.(874-876)GTC>GTG	p.V292V	TUBGCP3_uc010tjq.1_Silent_p.V282V|TUBGCP3_uc001vsf.2_Silent_p.V292V|TUBGCP3_uc001vsg.1_Silent_p.V292V	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	292					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGAAAGCCTGACTGCTGTGT	0.403		NaN											0	0	0	0.004007	0	16	75				
NEDD8	4738	broad.mit.edu	37	14	24687356	24687356	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:24687356G>A	uc001wnn.2	-	3	235	c.132C>T	c.(130-132)ATC>ATT	p.I44I	CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA	NM_006156	NP_006147	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally	44		Interaction with UBE1C.			anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin protein ligase binding				0				GBM - Glioblastoma multiforme(265;0.0186)		TGCCACTGTAGATGAGCCTCT	0.512		NaN											0	0	0	0.01441	0	47	83				
CTSG	1511	broad.mit.edu	37	14	25045381	25045381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:25045381C>A	uc001wpq.2	-	1	86	c.49G>T	c.(49-51)GAG>TAG	p.E17*		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	17					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		TCACCTGCCTCAGCCCCAGTG	0.438		NaN											1	0	0.00116845	0.001168	0.00147706	5	10				
C14orf106	55320	broad.mit.edu	37	14	45679581	45679581	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:45679581A>C	uc001wwf.2	-	14	3611	c.3152_splice	c.e14+1	p.R1051_splice		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106						cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						ATGAATATTTACCTATTTATA	0.378		NaN											0	0	0	0.008291	0	9	27				
CDKL1	8814	broad.mit.edu	37	14	50845115	50845115	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:50845115G>C	uc010anu.1	-	9	1134	c.1134C>G	c.(1132-1134)TTC>TTG	p.F378L	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					cagccgtcttgaaggggctgg	0		NaN											0	0	0	0.006214	0	10	31				
PTGER2	5732	broad.mit.edu	37	14	52781368	52781368	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:52781368C>T	uc001wzr.2	+	1	353	c.102C>T	c.(100-102)GCC>GCT	p.A34A		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	34	Helical; Name=1; (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGTTCTCGGCCGGGGTGCTGG	0.682		NaN											0	0	0	0.010504	0	20	19				
RTN1	6252	broad.mit.edu	37	14	60193667	60193667	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60193667G>C	uc001xen.1	-	3	1944	c.1735C>G	c.(1735-1737)CCC>GCC	p.P579A	RTN1_uc001xem.1_Missense_Mutation_p.P159A	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	579					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCAGTGGGGGCGGGGCGCCA	0.582		NaN											0	0	0	0.001984	0	6	22				
PPM1A	5494	broad.mit.edu	37	14	60749714	60749714	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60749714A>G	uc010apn.2	+	3	695	c.293A>G	c.(292-294)AAG>AGG	p.K98R	PPM1A_uc001xew.3_Missense_Mutation_p.K171R|PPM1A_uc001xex.3_Missense_Mutation_p.K98R|PPM1A_uc001xey.3_Missense_Mutation_p.K98R	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	98					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GAAAATGTAAAGAATGGAATC	0.418		NaN											0	0	0	0.004656	0	27	68				
SYNE2	23224	broad.mit.edu	37	14	64497985	64497985	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:64497985C>G	uc001xgm.2	+	45	7361	c.7131C>G	c.(7129-7131)GGC>GGG	p.G2377G	SYNE2_uc001xgl.2_Silent_p.G2377G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2377	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCTGCCAGGCAGAGAGAAGC	0.453		NaN											0	0	0	0.021523	0	25	76				
PTPN21	11099	broad.mit.edu	37	14	88936060	88936060	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:88936060C>A	uc001xwv.3	-	17	3349	c.3018G>T	c.(3016-3018)AAG>AAT	p.K1006N	PTPN21_uc010twc.1_Missense_Mutation_p.K802N	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	1006	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ACCTAAAGCTCTTCTCCCTTC	0.502		NaN											1	0	9.70103e-10	0.008291	1.30609e-09	9	20				
EML5	161436	broad.mit.edu	37	14	89109329	89109329	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:89109329C>G	uc001xxg.2	-	31	4331	c.4145G>C	c.(4144-4146)AGA>ACA	p.R1382T	EML5_uc001xxf.2_Missense_Mutation_p.R169T|EML5_uc001xxh.1_Missense_Mutation_p.R513T	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1374						cytoplasm|microtubule				ovary(3)	3						CCTACAGTCTCTGCCTCGATA	0.338		NaN											0	0	0	0.00499	0	16	45				
BTBD7	55727	broad.mit.edu	37	14	93717986	93717986	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:93717986C>T	uc001ybo.2	-	8	2091	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K	BTBD7_uc010aur.2_Missense_Mutation_p.E114K|BTBD7_uc010two.1_Missense_Mutation_p.E409K|BTBD7_uc001ybp.2_Missense_Mutation_p.E238K	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	589										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACCATCATCTCATCTAGCACT	0.403		NaN											0	0	0	0.01441	0	49	37				
DYNC1H1	1778	broad.mit.edu	37	14	102510695	102510695	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:102510695G>C	uc001yks.2	+	71	12933	c.12769G>C	c.(12769-12771)GAC>CAC	p.D4257H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4257					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CGGGCGCGTGGACAACGAGTT	0.557		NaN											0	0	0	0.013537	0	10	18				
EIF2AK4	440275	broad.mit.edu	37	15	40301819	40301819	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:40301819G>C	uc001zkm.1	+	26	3631	c.3581G>C	c.(3580-3582)AGA>ACA	p.R1194T	EIF2AK4_uc010bbj.1_Missense_Mutation_p.R895T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R294T|EIF2AK4_uc001zko.1_Missense_Mutation_p.R132T|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1194	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCCCAGGAAAGAAATTACAGT	0.333		NaN											0	0	0	0.004482	0	9	28				
ITPKA	3706	broad.mit.edu	37	15	41794660	41794660	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:41794660C>T	uc001znz.2	+	5	1080	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	357					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAGGTGCTTCGCGTCTTTGA	0.622		NaN											0	0	0	0.017118	0	33	67				
SLC24A5	283652	broad.mit.edu	37	15	48434351	48434351	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48434351A>G	uc001zwe.2	+	9	1379	c.1306A>G	c.(1306-1308)AGA>GGA	p.R436G	SLC24A5_uc010bel.2_Missense_Mutation_p.R376G|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Missense_Mutation_p.R67G	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	436	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AGTAAACAGCAGAGGACTAAC	0.363		NaN											0	0	0	0.003163	0	16	37				
USP8	9101	broad.mit.edu	37	15	50784944	50784944	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:50784944C>G	uc001zym.3	+	16	2781	c.2281C>G	c.(2281-2283)CAG>GAG	p.Q761E	USP8_uc001zyl.3_Missense_Mutation_p.Q761E|USP8_uc001zyn.3_Missense_Mutation_p.Q761E|USP8_uc010ufh.1_Missense_Mutation_p.Q655E|uc001zyo.1_RNA|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	761					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGCTTCTCAGATTCGGAA	0.388		NaN											0	0	0	0.012319	0	19	65				
WDR72	256764	broad.mit.edu	37	15	54008834	54008834	+	Silent	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:54008834A>T	uc002acj.2	-	4	351	c.309T>A	c.(307-309)GCT>GCA	p.A103A	WDR72_uc010bfi.1_Silent_p.A103A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	103										lung(1)|skin(1)	2				all cancers(107;0.0511)		AAGGAAGTGTAGCCTTCTCCA	0.428		NaN											0	0	0	0.008291	0	9	25				
GCOM1	145781	broad.mit.edu	37	15	57921940	57921940	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:57921940A>T	uc002aei.2	+	6	685	c.566A>T	c.(565-567)AAG>ATG	p.K189M	GCOM1_uc002aej.2_Missense_Mutation_p.K189M|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.K189M|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.K189M|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	189	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						AGCAACATTAAGGATCAAATC	0.458		NaN											0	0	0	0.016723	0	13	34				
VPS13C	54832	broad.mit.edu	37	15	62219320	62219320	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:62219320G>C	uc002agz.2	-	52	6560	c.6486C>G	c.(6484-6486)CTC>CTG	p.L2162L	VPS13C_uc002aha.2_Silent_p.L2119L|VPS13C_uc002ahb.1_Silent_p.L2162L|VPS13C_uc002ahc.1_Silent_p.L2119L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2162					protein localization					ovary(2)	2						TCTTTTCTCTGAGAAAAGGGC	0.393		NaN											0	0	0	0.017118	0	34	71				
MPI	4351	broad.mit.edu	37	15	75183880	75183880	+	Missense_Mutation	SNP	C	C	T	rs104894494		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:75183880C>T	uc002azc.1	+	3	310	c.305C>T	c.(304-306)TCA>TTA	p.S102L	MPI_uc010ulv.1_Missense_Mutation_p.S102L|MPI_uc010ulw.1_Missense_Mutation_p.S52L|MPI_uc002azd.1_Missense_Mutation_p.S102L|MPI_uc010ulx.1_Missense_Mutation_p.S52L|MPI_uc002aze.1_Missense_Mutation_p.S102L	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	102			S -> L (in CDG1B).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						AAAGTGCTCTCAGTTGAAACA	0.532		NaN											0	0	0	0.01441	0	44	107				
WFIKKN1	117166	broad.mit.edu	37	16	683267	683267	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:683267C>T	uc002cht.1	+	2	1099	c.857C>T	c.(856-858)GCC>GTC	p.A286V	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	286						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				CGAGAGCCGGCCAGGGACGCA	0.716		NaN											0	0	0	0.009096	0	4	10				
NUBP2	10101	broad.mit.edu	37	16	1836612	1836612	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:1836612A>G	uc002cmw.3	+	2	180	c.91A>G	c.(91-93)ATC>GTC	p.I31V	NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	31						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						GAAAAGCACCATCTCCACGGA	0.662		NaN											0	0	0	0.016723	0	13	85				
TSC2	7249	broad.mit.edu	37	16	2110796	2110796	+	Silent	SNP	G	G	A	rs45517149		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2110796G>A	uc002con.2	+	11	1207	c.1101G>A	c.(1099-1101)CGG>CGA	p.R367R	TSC2_uc010bsd.2_Silent_p.R367R|TSC2_uc002coo.2_Silent_p.R367R|TSC2_uc010uvv.1_Silent_p.R330R|TSC2_uc010uvw.1_Silent_p.R318R|TSC2_uc002cop.2_Silent_p.R167R	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	367	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TCATCGAACGGCTCCTTCAGC	0.602		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				0	0	0	0.014323	0	24	35				
PRSS21	10942	broad.mit.edu	37	16	2868796	2868796	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2868796C>T	uc002crt.2	+	4	482	c.376C>T	c.(376-378)CTG>TTG	p.L126L	PRSS21_uc002crs.2_Silent_p.L124L|PRSS21_uc002crr.2_Silent_p.L126L	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	126	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						GAATATCTATCTGAGCCCTCG	0.537		NaN											0	0	0	0.005443	0	26	116				
BTBD12	84464	broad.mit.edu	37	16	3641148	3641148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:3641148C>A	uc002cvp.2	-	12	3118	c.2491G>T	c.(2491-2493)GAG>TAG	p.E831*		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	831	Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AACAAAGTCTCCGCTTCCTCC	0.453		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				1	0	2.94884e-30	0.01441	4.17374e-30	69	101				
VASN	114990	broad.mit.edu	37	16	4431070	4431070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:4431070C>T	uc002cwj.1	+	2	347	c.192C>T	c.(190-192)ATC>ATT	p.I64I	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	64	Extracellular (Potential).|LRR 1.					extracellular region|integral to membrane					0						AGAACGGCATCACCATGCTCG	0.672		NaN											0	0	0	0.00308	0	7	13				
NAGPA	51172	broad.mit.edu	37	16	5075523	5075523	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:5075523C>T	uc002cyg.2	-	10	1525	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	NAGPA_uc010buc.2_Missense_Mutation_p.E199K|NAGPA_uc002cyf.2_Missense_Mutation_p.E220K|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_3'UTR	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	502	Cytoplasmic (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	TGCTCCTTCTCTGCGGCCAGA	0.647		NaN											0	0	0	0.01441	0	58	238				
C16orf75	116028	broad.mit.edu	37	16	11444614	11444614	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:11444614G>A	uc002daw.1	+	2	429	c.411G>A	c.(409-411)CTG>CTA	p.L137L	C16orf75_uc002daq.1_RNA	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	RecQ-mediated genome instability protein 2	137					DNA replication	nucleus	DNA binding				0						TGTGGGAACTGGAGGTAGAAG	0.438		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								0	0	0	0.010504	0	19	108				
ITPRIPL2	162073	broad.mit.edu	37	16	19126901	19126901	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:19126901T>A	uc002dfu.3	+	1	1648	c.1118T>A	c.(1117-1119)CTC>CAC	p.L373H	ITPRIPL2_uc002dft.2_Missense_Mutation_p.L69H	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	373	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GCCTGCTACCTCAAGTGCCTG	0.647		NaN											0	0	0	0.013726	0	34	146				
DNAH3	55567	broad.mit.edu	37	16	21073952	21073952	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:21073952C>T	uc010vbe.1	-	25	3571	c.3571G>A	c.(3571-3573)GAC>AAC	p.D1191N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1191	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CGGAGAGGGTCCTTTGTCTCG	0.448		NaN											0	0	0	0.004007	0	17	47				
JMJD5	79831	broad.mit.edu	37	16	27221612	27221612	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:27221612C>T	uc002doh.2	+	2	350	c.168C>T	c.(166-168)TTC>TTT	p.F56F	JMJD5_uc010bxv.2_Silent_p.F56F|JMJD5_uc010vcn.1_Silent_p.F94F|JMJD5_uc010bxw.2_Silent_p.F56F	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	56					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						CTGAGCTCTTCTACGAGGGCA	0.587		NaN											0	0	0	0.013537	0	12	55				
SRCAP	10847	broad.mit.edu	37	16	30750254	30750254	+	Missense_Mutation	SNP	C	C	T	rs141497857		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30750254C>T	uc002dze.1	+	34	9278	c.8893C>T	c.(8893-8895)CGG>TGG	p.R2965W	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2760W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2965	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTCCGAAAGTCGGACACAGCC	0.572		NaN											0	0	0	0.014323	0	22	111		Valid		
RNF40	9810	broad.mit.edu	37	16	30780185	30780185	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30780185G>A	uc002dzq.2	+	15	2247	c.2124G>A	c.(2122-2124)CGG>CGA	p.R708R	RNF40_uc010caa.2_Silent_p.R708R|RNF40_uc010cab.2_Silent_p.R608R|RNF40_uc010vfa.1_Silent_p.R40R|RNF40_uc002dzr.2_Silent_p.R708R|RNF40_uc010vfb.1_Silent_p.R400R|RNF40_uc010vfc.1_Silent_p.R40R	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	708	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GCCGCATCCGGGAATTGGAGG	0.562		NaN											0	0	0	0.01441	0	58	147				
C16orf78	123970	broad.mit.edu	37	16	49433094	49433094	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:49433094G>A	uc002efr.2	+	5	746	c.703G>A	c.(703-705)GAT>AAT	p.D235N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	235										central_nervous_system(1)	1						GTTGTGCAAGGATGCAGGAAT	0.478		NaN											0	0	0	0.016522	0	23	101				
GNAO1	2775	broad.mit.edu	37	16	56362664	56362664	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56362664A>G	uc002eit.3	+	4	1322	c.425A>G	c.(424-426)AAC>AGC	p.N142S	GNAO1_uc002eiu.3_Missense_Mutation_p.N142S	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	142					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GAGTGCTTCAACCGGTCCCGG	0.602		NaN											0	0	0	0.005443	0	27	74				
AMFR	267	broad.mit.edu	37	16	56423172	56423172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56423172C>T	uc002eiy.2	-	9	1406	c.1201G>A	c.(1201-1203)GAG>AAG	p.E401K	AMFR_uc002eix.2_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	401					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						ACCAAATTCTCATCCAAGTTC	0.448		NaN											0	0	0	0.00499	0	16	113				
GPR97	222487	broad.mit.edu	37	16	57712121	57712121	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57712121G>C	uc002emh.2	+	4	488	c.385G>C	c.(385-387)GAC>CAC	p.D129H	GPR97_uc010cdc.2_Missense_Mutation_p.D129H|GPR97_uc010vhv.1_Missense_Mutation_p.D9H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	129	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CAAGCCCCCTGACAGAGTGCG	0.587		NaN											0	0	0	0.00632	0	26	153				
CNGB1	1258	broad.mit.edu	37	16	57935315	57935315	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57935315C>T	uc002emt.2	-	29	2982	c.2917G>A	c.(2917-2919)GAC>AAC	p.D973N	CNGB1_uc010cdh.2_Missense_Mutation_p.D967N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	973	Helical; Name=H6; (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						TTCAGCATGTCAAAGATCATC	0.572		NaN											0	0	0	0.01441	0	67	197				
GFOD2	81577	broad.mit.edu	37	16	67709852	67709852	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67709852T>A	uc002eub.2	-	3	659	c.364A>T	c.(364-366)AAC>TAC	p.N122Y	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.N17Y	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	122						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CGCAGCACGTTCCCTACCAGG	0.572		NaN											0	0	0	0.013537	0	11	86				
RANBP10	57610	broad.mit.edu	37	16	67768937	67768937	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67768937G>C	uc002eud.2	-	6	716	c.600C>G	c.(598-600)CTC>CTG	p.L200L	RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.L144L|RANBP10_uc010vjv.1_Silent_p.L83L|RANBP10_uc010vjx.1_Silent_p.L200L|RANBP10_uc010vjy.1_Silent_p.L68L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	200	B30.2/SPRY.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGTGGGGTAGAGGTTGGCCT	0.592		NaN											0	0	0	0.013537	0	12	81				
CDH1	999	broad.mit.edu	37	16	68835746	68835746	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:68835746A>G	uc002ewg.1	+	3	461	c.337A>G	c.(337-339)AAA>GAA	p.K113E	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.K113E	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	113					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTTTTCCACCAAAGTCACGCT	0.502		NaN	Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				0	0	0	0.007413	0	14	96				
ZNF23	7571	broad.mit.edu	37	16	71482035	71482035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:71482035G>C	uc002faf.2	-	6	2707	c.1893C>G	c.(1891-1893)CTC>CTG	p.L631L	ZNF23_uc002fad.2_Silent_p.L573L|ZNF23_uc002fae.2_Silent_p.L573L|ZNF23_uc010vmf.1_Silent_p.L573L|ZNF23_uc002fag.2_Silent_p.L573L|ZNF23_uc002fah.2_Silent_p.L631L|ZNF23_uc002fai.2_Silent_p.L670L	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	631	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GATGCTGACTGAGCTGGAAGC	0.383		NaN											0	0	0	0.006214	0	10	102				
ZFPM1	161882	broad.mit.edu	37	16	88598530	88598530	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:88598530C>T	uc002fkv.2	+	7	866	c.833C>T	c.(832-834)ACA>ATA	p.T278I		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	278					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAGCCGCCACAGACGAGAAG	0.687		NaN											0	0	0	0.01441	0	34	50				
FANCA	2175	broad.mit.edu	37	16	89813043	89813043	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:89813043G>A	uc002fou.1	-	35	3504	c.3462C>T	c.(3460-3462)TTC>TTT	p.F1154F	FANCA_uc010vpn.1_Silent_p.F1154F|FANCA_uc010vpo.1_Silent_p.F240F	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1154					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGGCCAGTATGAAGTCGACCA	0.562		NaN	D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	0.015359	0	30	92				
SLC25A11	8402	broad.mit.edu	37	17	4841336	4841336	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:4841336C>T	uc002fzo.1	-	7	884	c.771G>A	c.(769-771)CCG>CCA	p.P257P	SLC25A11_uc002fzp.1_Silent_p.P253P|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	257	Solcar 3.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						TCTTGTATTCCGGCTTCCCAT	0.627		NaN											0	0	0	0.021022	0	34	140				
ZNF232	7775	broad.mit.edu	37	17	5009199	5009199	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5009199C>G	uc002gas.2	-	5	1928	c.1174G>C	c.(1174-1176)GAA>CAA	p.E392Q	ZNF232_uc002gar.1_Missense_Mutation_p.E410Q|ZNF232_uc002gat.2_Missense_Mutation_p.E419Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	392	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TTCCCACATTCTTTACATATA	0.443		NaN											0	0	0	0.01441	0	86	49				
C1QBP	708	broad.mit.edu	37	17	5336678	5336678	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5336678G>C	uc002gby.1	-	5	712	c.634C>G	c.(634-636)CAG>GAG	p.Q212E		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	212					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1						CCAGTGGACTGAAAGCTAACT	0.468		NaN											0	0	0	0.01441	0	48	132				
ACAP1	9744	broad.mit.edu	37	17	7250491	7250491	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:7250491G>A	uc002ggd.2	+	14	1479	c.1273G>A	c.(1273-1275)GAG>AAG	p.E425K		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	425	Arf-GAP.|C4-type.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						CGACTGCCGGGAGCCAGCCCC	0.657		NaN											0	0	0	0.01892	0	20	60				
MYH13	8735	broad.mit.edu	37	17	10216043	10216043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10216043C>A	uc002gmk.1	-	31	4303	c.4213G>T	c.(4213-4215)GAG>TAG	p.E1405*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1405	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GTGTTCTCCTCTGCTTCCTGG	0.517		NaN											1	0	5.4927e-09	0.004482	7.35916e-09	7	22				
MYH13	8735	broad.mit.edu	37	17	10243492	10243492	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10243492C>G	uc002gmk.1	-	18	2121	c.2031G>C	c.(2029-2031)CTG>CTC	p.L677L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	677	Myosin head-like.|Actin-binding (By similarity).				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CATTGGGAATCAGACATCGTA	0.428		NaN											0	0	0	0.010504	0	18	4				
MYH8	4626	broad.mit.edu	37	17	10309620	10309620	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10309620G>A	uc002gmm.2	-	20	2361	c.2266C>T	c.(2266-2268)CAT>TAT	p.H756Y	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	756	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TATTGAGTATGATCAATATCA	0.378		NaN							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				0	0	0	0.006214	0	10	15				
MYH1	4619	broad.mit.edu	37	17	10395785	10395785	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10395785T>G	uc002gmo.2	-	40	5862	c.5768A>C	c.(5767-5769)AAG>ACG	p.K1923T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1923	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CACCCTCAGCTTGTTGACCTG	0.478		NaN											0	0	0	0.009535	0	29	72				
ATPAF2	91647	broad.mit.edu	37	17	17924527	17924527	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:17924527G>C	uc002gse.1	-	7	795	c.642C>G	c.(640-642)CTC>CTG	p.L214L	ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	214					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CCATGGACTTGAGCTGGGCAG	0.592		NaN											0	0	0	0.013537	0	10	42				
MYO15A	51168	broad.mit.edu	37	17	18042859	18042859	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:18042859C>T	uc010vxh.1	+	18	5483	c.5145C>T	c.(5143-5145)TTC>TTT	p.F1715F		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1715	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCACAAGTTCCTGGACAAGA	0.592		NaN											0	0	0	0.01441	0	47	25				
SLC47A2	146802	broad.mit.edu	37	17	19608794	19608794	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19608794G>C	uc002gwe.3	-	10	1147	c.972C>G	c.(970-972)CTC>CTG	p.L324L	SLC47A2_uc002gwg.3_Silent_p.L288L|SLC47A2_uc002gwf.3_Silent_p.L288L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	324	Extracellular (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CCTGGGCAGAGAGATCCACCA	0.647		NaN											0	0	0	0.014758	0	5	23				
ALDH3A1	218	broad.mit.edu	37	17	19646659	19646659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19646659G>A	uc010cqu.2	-	2	610	c.280C>T	c.(280-282)CAG>TAG	p.Q94*	ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwk.2_Silent_p.L10L|ALDH3A1_uc002gwl.1_Nonsense_Mutation_p.Q21*	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	94					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TCGTCCTGCTGAGTCTGGGGC	0.602		NaN											0	0	0	0.021523	0	26	161				
SSH2	85464	broad.mit.edu	37	17	27998974	27998974	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998974G>C	uc002heo.1	-	8	707	c.707C>G	c.(706-708)TCT>TGT	p.S236C	SSH2_uc010wbh.1_Missense_Mutation_p.S263C|SSH2_uc002hep.1_Missense_Mutation_p.S236C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	236					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GAGAGCTGGAGAGTCGGGCCG	0.448		NaN											0	0	0	0.00499	0	8	201				
SSH2	85464	broad.mit.edu	37	17	27998987	27998987	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998987G>T	uc002heo.1	-	8	694	c.694C>A	c.(694-696)CAC>AAC	p.H232N	SSH2_uc010wbh.1_Missense_Mutation_p.H259N|SSH2_uc002hep.1_Missense_Mutation_p.H232N	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	232					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCGGGCCGGTGGGACTGTACA	0.448		NaN											1	0	1.87028e-06	0.012319	2.46985e-06	11	205				
SSH2	85464	broad.mit.edu	37	17	27999021	27999021	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999021G>A	uc002heo.1	-	8	660	c.660C>T	c.(658-660)GTC>GTT	p.V220V	SSH2_uc010wbh.1_Silent_p.V247V|SSH2_uc002hep.1_Silent_p.V220V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	220					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCCATTCATTGACTGAGGATT	0.468		NaN											0	0	0	0.013537	0	10	187				
SSH2	85464	broad.mit.edu	37	17	27999025	27999025	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999025G>A	uc002heo.1	-	8	656	c.656C>T	c.(655-657)TCA>TTA	p.S219L	SSH2_uc010wbh.1_Missense_Mutation_p.S246L|SSH2_uc002hep.1_Missense_Mutation_p.S219L	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	219					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TTCATTGACTGAGGATTGATC	0.468		NaN											0	0	0	0.013537	0	10	194				
CDK5R1	8851	broad.mit.edu	37	17	30814982	30814982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:30814982C>A	uc002hhn.2	+	2	565	c.344C>A	c.(343-345)TCG>TAG	p.S115*	CDK5R1_uc010wca.1_Nonsense_Mutation_p.S115*|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	115					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCCAGCTCTCGGGTTCCCAG	0.672		NaN											1	0	4.75426e-39	0.01441	6.74062e-39	76	164				
TMEM132E	124842	broad.mit.edu	37	17	32954018	32954018	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:32954018T>G	uc002hif.2	+	3	998	c.670T>G	c.(670-672)TAT>GAT	p.Y224D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	224	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATCCTCCTCTATCTGGCCCC	0.632		NaN											0	0	0	0.014323	0	20	134				
DHRS11	79154	broad.mit.edu	37	17	34951498	34951498	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:34951498C>T	uc002hnd.2	+	2	459	c.245C>T	c.(244-246)TCA>TTA	p.S82L		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	82						extracellular region	binding|oxidoreductase activity				0						TCCATGTTCTCAGCTATCCGT	0.542		NaN											0	0	0	0.01441	0	96	118				
ORMDL3	94103	broad.mit.edu	37	17	38080454	38080454	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38080454C>T	uc002htj.1	-	2	143	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.M1I	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	ORM1-like 3	1	Cytoplasmic (Potential).				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding				0	Colorectal(19;0.000442)		Lung(15;0.0234)			TGCCCACATTCATCCTGCTGC	0.617		NaN											0	0	0	0.004007	0	15	119				
PSMD3	5709	broad.mit.edu	37	17	38151529	38151529	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38151529G>A	uc002htn.1	+	8	1361	c.1197G>A	c.(1195-1197)CGG>CGA	p.R399R	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.R300R	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	399	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TCCGGCTGCGGCACAACGTGA	0.537		NaN											0	0	0	0.011902	0	42	259				
KRT12	3859	broad.mit.edu	37	17	39019991	39019991	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39019991C>T	uc002hvk.2	-	4	957	c.933G>A	c.(931-933)CAG>CAA	p.Q311Q		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	311	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCTTCCGATTCTGCTCAGCGA	0.547		NaN											0	0	0	0.01441	0	63	33				
KRT38	8687	broad.mit.edu	37	17	39594846	39594846	+	Missense_Mutation	SNP	T	T	G	rs143250758	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39594846T>G	uc002hwq.1	-	5	1340	c.917A>C	c.(916-918)GAC>GCC	p.D306A		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	306	Coil 2.|Rod.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				GCAGGACATGTCCTGCAGGCT	0.632		NaN											0	0	0	0.014323	0	20	136				
KRT36	8689	broad.mit.edu	37	17	39645947	39645947	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39645947G>C	uc002hwt.2	-	1	170	c.170C>G	c.(169-171)TCT>TGT	p.S57C		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	57	Head.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				CCCAAGGCCAGAGAGGCCCGA	0.637		NaN											0	0	0	0.01441	0	104	53				
UBTF	7343	broad.mit.edu	37	17	42290269	42290269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:42290269G>T	uc002igb.2	-	6	645	c.578C>A	c.(577-579)TCG>TAG	p.S193*	UBTF_uc002igc.2_Nonsense_Mutation_p.S193*|UBTF_uc010czs.2_Nonsense_Mutation_p.S193*|UBTF_uc002igd.2_Nonsense_Mutation_p.S193*|UBTF_uc010czt.2_Nonsense_Mutation_p.S193*|UBTF_uc002ige.2_Nonsense_Mutation_p.S193*	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	193					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGATGTCCGATTTCTTGGC	0.587		NaN											1	0	1.3612e-06	0.003163	1.80044e-06	13	346				
NMT1	4836	broad.mit.edu	37	17	43138785	43138785	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:43138785T>C	uc002ihz.2	+	1	106	c.88T>C	c.(88-90)TGC>CGC	p.C30R	DCAKD_uc010dab.1_5'Flank|NMT1_uc010dac.1_RNA|NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	30					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				CCATGAGCACTGCAGCGATTG	0.602		NaN											0	0	0	0.01441	0	58	16				
TMEM100	55273	broad.mit.edu	37	17	53798395	53798395	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:53798395G>A	uc002iuj.3	-	2	348	c.37C>T	c.(37-39)CCA>TCA	p.P13S	TMEM100_uc002iuk.3_Missense_Mutation_p.P13S	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	13						integral to membrane					0						TGAGCCTTTGGGGCTCCCAGG	0.507		NaN											0	0	0	0.004656	0	25	159				
DDX42	11325	broad.mit.edu	37	17	61895172	61895172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:61895172C>T	uc002jbu.2	+	19	2488	c.2231C>T	c.(2230-2232)TCA>TTA	p.S744L	DDX42_uc002jbv.2_Missense_Mutation_p.S744L|DDX42_uc002jbx.2_Missense_Mutation_p.S480L|DDX42_uc002jby.2_Missense_Mutation_p.S290L|DDX42_uc010wps.1_Missense_Mutation_p.S112L	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	744	Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCAACTAACTCAGCACAACAG	0.542		NaN											0	0	0	0.01441	0	86	43				
GGA3	23163	broad.mit.edu	37	17	73242646	73242646	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:73242646G>T	uc002jni.1	-	3	154	c.145C>A	c.(145-147)CTG>ATG	p.L49M	GGA3_uc002jnj.1_Missense_Mutation_p.L49M|GGA3_uc010wrw.1_Translation_Start_Site|GGA3_uc002jnk.1_Translation_Start_Site|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Translation_Start_Site|GGA3_uc010wrz.1_Missense_Mutation_p.L49M	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	49	VHS.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGGCCAGCAGTCGGACGGCG	0.637		NaN											1	0	6.94344e-10	0.006122	9.36347e-10	15	77				
APCDD1	147495	broad.mit.edu	37	18	10487667	10487667	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:10487667G>A	uc002kom.3	+	5	1531	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	393	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		GTGCGGGGCCGAGGGCTCCTG	0.582		NaN											0	0	0	0.013726	0	32	84				
MYO5B	4645	broad.mit.edu	37	18	47369614	47369614	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:47369614C>T	uc002leb.2	-	34	4896	c.4608G>A	c.(4606-4608)CTG>CTA	p.L1536L	MYO5B_uc002ldz.2_Silent_p.L106L|MYO5B_uc002lea.2_Silent_p.L651L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1536	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TGCTTACTTTCAGGACTTTCT	0.527		NaN											0	0	0	0.006214	0	9	30				
CDH7	1005	broad.mit.edu	37	18	63526247	63526247	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:63526247G>A	uc002ljz.2	+	9	1784	c.1459G>A	c.(1459-1461)GAG>AAG	p.E487K	CDH7_uc002lka.2_Missense_Mutation_p.E487K|CDH7_uc002lkb.2_Missense_Mutation_p.E487K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	487	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428		NaN											0	0	0	0.014758	0	5	31				
ZNF407	55628	broad.mit.edu	37	18	72343704	72343704	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:72343704C>G	uc002llw.2	+	1	786	c.729C>G	c.(727-729)GTC>GTG	p.V243V	ZNF407_uc010xfc.1_Silent_p.V243V|ZNF407_uc010dqu.1_Silent_p.V243V|ZNF407_uc002llu.2_Silent_p.V242V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACAGAAGGTCTTTTCCTGTG	0.453		NaN											0	0	0	0.004656	0	27	93				
MED16	10025	broad.mit.edu	37	19	875330	875330	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:875330G>A	uc002lqd.1	-	10	1836	c.1685C>T	c.(1684-1686)TCG>TTG	p.S562L	MED16_uc010drw.1_Missense_Mutation_p.S387L|MED16_uc002lqe.2_Missense_Mutation_p.S551L|MED16_uc002lqf.2_Missense_Mutation_p.S551L|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.S482L|MED16_uc010xfx.1_Missense_Mutation_p.S407L|MED16_uc010xfy.1_Missense_Mutation_p.S139L|MED16_uc010xfz.1_5'Flank	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	562					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGCAGCGACTTCAGGGT	0.627		NaN											0	0	0	0.021523	0	23	56				
CIRBP	1153	broad.mit.edu	37	19	1271019	1271019	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:1271019C>T	uc002lrr.3	+	2	236	c.87C>T	c.(85-87)TAC>TAT	p.Y29Y	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.T12M|CIRBP_uc002lrt.2_Silent_p.Y29Y|CIRBP_uc010xgl.1_Silent_p.Y29Y|CIRBP_uc002lrv.3_Silent_p.Y29Y|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	29	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAAAGTACGGACAGATCT	0.418		NaN											0	0	0	0.00874	0	41	159				
SPPL2B	56928	broad.mit.edu	37	19	2339822	2339822	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:2339822G>A	uc002lvs.2	+	6	680	c.600_splice	c.e6-1	p.K200_splice	SPPL2B_uc010dsw.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsy.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsz.1_Splice_Site_p.K200_splice|SPPL2B_uc002lvr.2_Splice_Site_p.K200_splice|SPPL2B_uc010dta.1_Intron|SPPL2B_uc002lvu.2_Silent_p.K5K	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCCCAAGAAGGTACATG	0.677		NaN											0	0	0	0.001168	0	4	11				
CELF5	60680	broad.mit.edu	37	19	3251037	3251037	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:3251037C>T	uc002lxm.2	+	2	351	c.314C>T	c.(313-315)GCC>GTC	p.A105V	CELF5_uc002lxl.1_Missense_Mutation_p.A105V|CELF5_uc010dtj.1_Missense_Mutation_p.A105V|CELF5_uc010xhg.1_5'UTR	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	105	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						GCTCAGACTGCCCTGCACGAG	0.597		NaN											0	0	0	0.012319	0	23	80				
ADAMTS10	81794	broad.mit.edu	37	19	8670587	8670587	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:8670587G>T	uc002mkj.1	-	3	283	c.9C>A	c.(7-9)CCC>CCA	p.P3P	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	3					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TCTGGCAGGCGGGAGCCATAG	0.682		NaN											1	0	0.000308642	0.003163	0.000392558	11	22				
MUC16	94025	broad.mit.edu	37	19	9063595	9063595	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:9063595T>A	uc002mkp.2	-	3	24055	c.23851A>T	c.(23851-23853)AGG>TGG	p.R7951W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7953	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGACCCCTCCTCATAAGAGTG	0.463		NaN											0	0	0	0.00499	0	17	55				
RAVER1	125950	broad.mit.edu	37	19	10444084	10444084	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10444084C>T	uc002moa.2	-	1	231	c.151G>A	c.(151-153)GAA>AAA	p.E51K		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	34						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCAGCTCTTCTTCCGGCGCC	0.672		NaN											0	0	0	0.009535	0	26	146				
SLC44A2	57153	broad.mit.edu	37	19	10745710	10745710	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10745710G>A	uc002mpf.2	+	12	1155	c.1016G>A	c.(1015-1017)AGA>AAA	p.R339K	SLC44A2_uc002mpe.3_Missense_Mutation_p.R337K|SLC44A2_uc002mpg.1_Missense_Mutation_p.R59K|SLC44A2_uc002mph.2_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	339	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTCCGGAAGAGAATTCTCATC	0.547		NaN											0	0	0	0.01441	0	64	234				
RAB3D	9545	broad.mit.edu	37	19	11446394	11446394	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:11446394G>C	uc002mqy.2	-	3	532	c.294C>G	c.(292-294)TTC>TTG	p.F98L		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	98					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						ACATGAGCAGGAAGCCCATGG	0.587		NaN											0	0	0	0.009718	0	36	155				
IL27RA	9466	broad.mit.edu	37	19	14150615	14150615	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14150615G>A	uc002mxx.2	+	4	850	c.427G>A	c.(427-429)GAC>AAC	p.D143N		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	143	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						TTCCGAGGATGACCCCCTGGA	0.607		NaN											0	0	0	0.01441	0	91	45				
ASF1B	55723	broad.mit.edu	37	19	14231399	14231399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14231399C>A	uc002mye.2	-	4	653	c.481G>T	c.(481-483)GAG>TAG	p.E161*	PRKACA_uc002myc.2_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	161					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						TCTATGGCCTCCAGCCTGTCC	0.632		NaN											1	0	0.000422831	0.004007	0.00053697	15	39				
TECR	9524	broad.mit.edu	37	19	14675655	14675655	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14675655C>G	uc002mza.2	+	8	674	c.547C>G	c.(547-549)CTC>GTC	p.L183V	TECR_uc002mzb.2_Missense_Mutation_p.L198V|TECR_uc010xns.1_Missense_Mutation_p.L28V|TECR_uc002mzc.2_Missense_Mutation_p.L28V|TECR_uc002mzd.2_Missense_Mutation_p.L183V|TECR_uc002mze.2_Missense_Mutation_p.L9V|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	183					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						CAATCACCCTCTCTACACTCC	0.632		NaN											0	0	0	0.010504	0	20	127				
OCEL1	79629	broad.mit.edu	37	19	17337908	17337908	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17337908G>A	uc002nfp.2	+	3	354	c.352G>A	c.(352-354)GAT>AAT	p.D118N		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	118										central_nervous_system(1)	1						TGTGTTTGAGGATGAGTTGCT	0.642		NaN											0	0	0	0.001984	0	6	171				
PLVAP	83483	broad.mit.edu	37	19	17476638	17476638	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17476638C>G	uc002ngk.1	-	3	686	c.636G>C	c.(634-636)CAG>CAC	p.Q212H		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	212	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCTTGGCCAGCTGGCGCTCTT	0.562		NaN											0	0	0	0.004656	0	24	92				
UNC13A	23025	broad.mit.edu	37	19	17735691	17735691	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17735691C>T	uc002nhd.2	-	35	4408	c.4408G>A	c.(4408-4410)GTT>ATT	p.V1470I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1382	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GTGTTCATAACCAGCTTCCAC	0.597		NaN											0	0	0	0.006214	0	9	44				
UNC13A	23025	broad.mit.edu	37	19	17737462	17737462	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17737462G>A	uc002nhd.2	-	34	4317	c.4317C>T	c.(4315-4317)ATC>ATT	p.I1439I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1351	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GCAGGTCCATGATGGGCTGCA	0.647		NaN											0	0	0	0.004672	0	3	6				
ZNF536	9745	broad.mit.edu	37	19	31040280	31040280	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:31040280G>A	uc002nsu.1	+	4	3892	c.3754G>A	c.(3754-3756)GAG>AAG	p.E1252K	ZNF536_uc010edd.1_Missense_Mutation_p.E1252K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCCAAAGCCGGAGCGGGGGCC	0.612		NaN											0	0	0	0.008871	0	19	49				
CCDC123	84902	broad.mit.edu	37	19	33444536	33444536	+	Silent	SNP	C	C	T	rs140563444		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:33444536C>T	uc002nty.2	-	4	566	c.477G>A	c.(475-477)GTG>GTA	p.V159V	CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.V159V|CCDC123_uc002nua.2_Silent_p.V159V|CCDC123_uc002nub.1_Silent_p.V51V	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	159						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					TTCTGTGTGGCACAGCGTACA	0.468		NaN											0	0	0	0.007413	0	17	741				
CHST8	64377	broad.mit.edu	37	19	34263476	34263476	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:34263476C>G	uc002nus.3	+	5	1288	c.783C>G	c.(781-783)TTC>TTG	p.F261L	CHST8_uc002nut.3_Missense_Mutation_p.F261L|CHST8_uc002nuu.2_Missense_Mutation_p.F261L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	261	PAPS (By similarity).|Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GCGAGCCCTTCGAGAGGCTGG	0.612		NaN											0	0	0	0.007413	0	18	191				
FFAR3	2865	broad.mit.edu	37	19	35850555	35850555	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:35850555C>G	uc002nzd.2	+	2	838	c.763C>G	c.(763-765)CCG>GCG	p.P255A	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	255	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTGAAAGCCCGGCGTGGAG	0.592		NaN											0	0	0	0.019004	0	34	583				
IL28A	282616	broad.mit.edu	37	19	39759824	39759824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:39759824C>A	uc002oku.1	+	3	277	c.225C>A	c.(223-225)TGC>TGA	p.C75*		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	75					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACTGCAGGTGCCACTCCCGCC	0.637		NaN											1	0	8.12818e-05	0.001984	0.000104505	6	26				
CD3EAP	10849	broad.mit.edu	37	19	45910367	45910367	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:45910367C>T	uc002pbq.1	+	2	526	c.38C>T	c.(37-39)TCT>TTT	p.S13F	PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.S15F	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	13					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GCTCGGTTCTCTTGTCCCCCC	0.592		NaN											0	0	0	0.005443	0	27	221				
GRLF1	2909	broad.mit.edu	37	19	47502569	47502569	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:47502569G>A	uc010ekv.2	+	5	4045	c.4045G>A	c.(4045-4047)GAC>AAC	p.D1349N		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1349	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AGAAATCAACGACCGGGAGCA	0.493		NaN											0	0	0	0.00308	0	7	15				
PTOV1	53635	broad.mit.edu	37	19	50361229	50361229	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50361229G>C	uc002pqf.1	+	8	1043	c.873G>C	c.(871-873)GAG>GAC	p.E291D	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.E259D|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	291	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCAGGGGGAGATCCTGTGAG	0.652		NaN											0	0	0	0.009096	0	4	123				
TBC1D17	79735	broad.mit.edu	37	19	50387551	50387551	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387551G>C	uc002pqo.2	+	11	1320	c.1168G>C	c.(1168-1170)GAG>CAG	p.E390Q	TBC1D17_uc010ybg.1_Missense_Mutation_p.E357Q|TBC1D17_uc002pqp.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	390	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAAGTTCTACGAGGGTCCCGA	0.632		NaN											0	0	0	0.010771	0	44	310				
TBC1D17	79735	broad.mit.edu	37	19	50387587	50387587	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387587G>A	uc002pqo.2	+	11	1356	c.1204G>A	c.(1204-1206)GAT>AAT	p.D402N	TBC1D17_uc010ybg.1_Missense_Mutation_p.D369N|TBC1D17_uc002pqp.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	402	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCTGCTGAACGATATCCTCCT	0.662		NaN											0	0	0	0.01441	0	64	400				
TBC1D17	79735	broad.mit.edu	37	19	50387778	50387778	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387778G>C	uc002pqo.2	+	12	1458	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H	TBC1D17_uc010ybg.1_Missense_Mutation_p.D403H|TBC1D17_uc002pqp.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	436	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAACGAGGTGGATGCTTTCTG	0.592		NaN											0	0	0	0.019004	0	35	237				
FPR1	2357	broad.mit.edu	37	19	52249881	52249881	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52249881G>A	uc002pxq.2	-	2	462	c.367C>T	c.(367-369)CGC>TGC	p.R123C		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	123	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAAACACAGCGGTCCAGAGCA	0.552		NaN											0	0	0	0.005524	0	39	79				
ZNF649	65251	broad.mit.edu	37	19	52393957	52393957	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52393957G>A	uc002pxy.2	-	5	1700	c.1432C>T	c.(1432-1434)CAT>TAT	p.H478Y	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCCTGCACATGTTCACTAGGA	0.318		NaN											0	0	0	0.003163	0	15	319				
ZNF615	284370	broad.mit.edu	37	19	52507119	52507119	+	Translation_Start_Site	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52507119T>A	uc002pye.1	-	3	138	c.-154A>T	c.(-156--152)GAAGG>GATGG		ZNF615_uc002pyf.1_Translation_Start_Site|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Translation_Start_Site|ZNF615_uc010epi.1_Intron|ZNF615_uc010ydg.1_Intron	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCTCCTTCCTTCACTTGATT	0.428		NaN											0	0	0	0.009096	0	4	14				
ZNF816A	125893	broad.mit.edu	37	19	53453850	53453850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:53453850C>G	uc002qal.1	-	5	1479	c.1178G>C	c.(1177-1179)GGA>GCA	p.G393A	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.G377A	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		AGGTTTCTCTCCAGTGTGAAG	0.393		NaN											0	0	0	0.01441	0	86	130				
RPL28	6158	broad.mit.edu	37	19	55897738	55897738	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55897738C>G	uc002qkv.2	+	2	55	c.13C>G	c.(13-15)CTG>GTG	p.L5V	uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.L5V|RPL28_uc010yfy.1_Missense_Mutation_p.L5V|RPL28_uc010yga.1_Missense_Mutation_p.L5V|RPL28_uc010ygb.1_Missense_Mutation_p.L5V|RPL28_uc002qkw.1_Missense_Mutation_p.L5V	NM_000991	NP_000982	P46779	RL28_HUMAN	ribosomal protein L28 isoform 2	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTCTGCGCATCTGCAATGGAT	0.607		NaN											0	0	0	0.00499	0	17	50				
UBE2S	27338	broad.mit.edu	37	19	55918274	55918274	+	Silent	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55918274C>A	uc002qkx.1	-	2	428	c.60G>T	c.(58-60)GTG>GTT	p.V20V	uc002qky.2_5'Flank	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	20					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity				0	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCAGTGTCGTCACCTCCTTGT	0.602		NaN											1	0	2.27525e-19	0.021523	3.18228e-19	25	159				
ZNF581	51545	broad.mit.edu	37	19	56156283	56156283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56156283G>T	uc002qln.2	+	2	1062	c.346G>T	c.(346-348)GAG>TAG	p.E116*	ZNF581_uc002qlq.2_Nonsense_Mutation_p.E116*|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	116	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAAGCCCTTCGAGTGTGACAT	0.607		NaN											1	0	0.00307968	0.00308	0.00387534	7	223				
U2AF2	11338	broad.mit.edu	37	19	56175100	56175100	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56175100C>G	uc002qlu.2	+	7	1787	c.732C>G	c.(730-732)GTC>GTG	p.V244V	U2AF2_uc002qlt.2_Silent_p.V244V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	244					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACCCCTCCGTCTATGTGCCTG	0.587		NaN											0	0	0	0.01441	0	86	196				
ZFP28	140612	broad.mit.edu	37	19	57058946	57058946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57058946C>T	uc002qnj.2	+	3	441	c.370C>T	c.(370-372)CAG>TAG	p.Q124*	ZFP28_uc002qni.2_Nonsense_Mutation_p.Q124*|uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	124	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAACCCCATTCAGAGGAACTT	0.527		NaN											0	0	0	0.006122	0	19	94				
AURKC	6795	broad.mit.edu	37	19	57744973	57744973	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57744973T>A	uc002qoe.2	+	5	770	c.581T>A	c.(580-582)CTG>CAG	p.L194Q	AURKC_uc002qoc.2_Missense_Mutation_p.L175Q|AURKC_uc002qod.2_Missense_Mutation_p.L160Q|AURKC_uc010etv.2_Missense_Mutation_p.L191Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	194	Protein kinase.			SLR -> LPE (in Ref. 2; AAC77369).	cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACCCCCTCCCTGAGGTAGGTC	0.483		NaN											0	0	0	0.005443	0	27	144				
TPO	7173	broad.mit.edu	37	2	1481320	1481320	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:1481320T>A	uc002qww.2	+	8	1373	c.1282T>A	c.(1282-1284)TGG>AGG	p.W428R	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.W428R|TPO_uc002qwr.2_Missense_Mutation_p.W428R|TPO_uc002qwx.2_Missense_Mutation_p.W428R|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.W428R	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	428	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAATGCGCACTGGAGCGCGGA	0.741		NaN											0	0	0	0.00308	0	7	9				
C2orf44	80304	broad.mit.edu	37	2	24261333	24261333	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:24261333C>G	uc002rep.2	-	2	1163	c.1032G>C	c.(1030-1032)CTG>CTC	p.L344L	C2orf44_uc010eya.2_Silent_p.L344L	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	344							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATGCTATCAGATCAGGAA	0.418		NaN											0	0	0	0.009096	0	4	93				
ADCY3	109	broad.mit.edu	37	2	25141819	25141819	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:25141819G>A	uc002rfs.3	-	1	237	c.38C>T	c.(37-39)TCG>TTG	p.S13L	ADCY3_uc010ykm.1_Missense_Mutation_p.S13L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	13	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					gtactcggccgagtattcggG	0.542		NaN											0	0	0	0.014758	0	4	21				
OTOF	9381	broad.mit.edu	37	2	26706369	26706369	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:26706369G>C	uc002rhk.2	-	13	1480	c.1353C>G	c.(1351-1353)CTC>CTG	p.L451L		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	451	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGTCCACGAGGTCCTTGT	0.537		NaN											0	0	0	0.003163	0	15	92				
C2orf16	84226	broad.mit.edu	37	2	27804486	27804486	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:27804486G>C	uc002rkz.3	+	1	5098	c.5047G>C	c.(5047-5049)GAG>CAG	p.E1683Q	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1683	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|7.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CGGTCCCTCAGAGAGAAGCCA	0.567		NaN											0	0	0	0.010729	0	11	342				
BIRC6	57448	broad.mit.edu	37	2	32743962	32743962	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743962C>T	uc010ezu.2	+	57	11706	c.11572C>T	c.(11572-11574)CTT>TTT	p.L3858F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3858					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATTCCGTACTCTTCATTTGCC	0.368		NaN											0	0	0	0.004482	0	7	36				
BIRC6	57448	broad.mit.edu	37	2	32743965	32743965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743965C>T	uc010ezu.2	+	57	11709	c.11575C>T	c.(11575-11577)CAT>TAT	p.H3859Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3859					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGTACTCTTCATTTGCCAGT	0.363		NaN											0	0	0	0.004482	0	7	36				
BIRC6	57448	broad.mit.edu	37	2	32743998	32743998	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743998C>G	uc010ezu.2	+	57	11742	c.11608C>G	c.(11608-11610)CTT>GTT	p.L3870V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3870					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATCAGATGTTCTTGACAGAGT	0.348		NaN											0	0	0	0.014758	0	5	27				
PRKD3	23683	broad.mit.edu	37	2	37505009	37505009	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:37505009C>G	uc002rqd.2	-	8	1851	c.1296G>C	c.(1294-1296)CTG>CTC	p.L432L	PRKD3_uc002rqe.1_Silent_p.L32L|PRKD3_uc002rqf.1_Silent_p.L432L	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GATTACTGACCAGGTTATCCC	0.378		NaN											0	0	0	0.005524	0	36	83				
PLEKHH2	130271	broad.mit.edu	37	2	43953483	43953483	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:43953483G>C	uc010yny.1	+	17	2697	c.2614G>C	c.(2614-2616)GAT>CAT	p.D872H	PLEKHH2_uc002rtf.3_Missense_Mutation_p.D871H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	872	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCAGATGAAGATTATGAAGC	0.398		NaN											0	0	0	0.004672	0	3	51				
SIX3	6496	broad.mit.edu	37	2	45171878	45171878	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:45171878C>G	uc002run.1	+	2	1185	c.978C>G	c.(976-978)AGC>AGG	p.S326R		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	326					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACCTCCAGCGACTCGGAAT	0.448		NaN											0	0	0	0.009096	0	3	9				
PAIP2B	400961	broad.mit.edu	37	2	71415650	71415650	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:71415650T>C	uc002shu.2	-	4	518	c.331A>G	c.(331-333)AAC>GAC	p.N111D		NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	111					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding				0						GCATCTGGGTTCAGGTTACTT	0.433		NaN											0	0	0	0.004672	0	3	21				
RAB11FIP5	26056	broad.mit.edu	37	2	73316194	73316194	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:73316194C>G	uc002siu.3	-	2	922	c.681G>C	c.(679-681)AAG>AAC	p.K227N	RAB11FIP5_uc002sit.3_Missense_Mutation_p.K149N	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	227					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						CTTTGCCCATCTTGCCCAGGC	0.587		NaN											0	0	0	0.009535	0	31	134				
SEMA4F	10505	broad.mit.edu	37	2	74900804	74900804	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:74900804C>T	uc002sna.1	+	7	782	c.671C>T	c.(670-672)GCC>GTC	p.A224V	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.A191V|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	224	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GTATTCCCAGCCCCAGCCTTT	0.592		NaN											0	0	0	0.005443	0	28	57				
TACR1	6869	broad.mit.edu	37	2	75425676	75425676	+	Missense_Mutation	SNP	C	C	G	rs77755890		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:75425676C>G	uc002sng.2	-	1	970	c.385G>C	c.(385-387)GAT>CAT	p.D129H	TACR1_uc002snh.2_Missense_Mutation_p.D129H	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	129	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCTCACCTATCAAAGGCCACA	0.512		NaN											0	0	0	0.001984	0	7	103				
REG1A	5967	broad.mit.edu	37	2	79347991	79347991	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:79347991G>T	uc002snz.2	+	2	107	c.4G>T	c.(4-6)GCT>TCT	p.A2S	REG1A_uc010ffx.1_Missense_Mutation_p.A2S|REG1A_uc010ysd.1_Missense_Mutation_p.A2S	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	2					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						GCTCAGCATGGCTCAGACCAG	0.473		NaN											1	0	5.9392e-07	0.001168	7.88086e-07	5	48				
POLR1A	25885	broad.mit.edu	37	2	86280076	86280076	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:86280076C>T	uc002sqs.2	-	16	2635	c.2256G>A	c.(2254-2256)GCG>GCA	p.A752A	POLR1A_uc010ytb.1_Silent_p.A118A	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	752					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCCCATAGTGCGCCTTGTCCA	0.632		NaN											0	0	0	0.007291	0	28	39				
RPIA	22934	broad.mit.edu	37	2	89034118	89034118	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:89034118T>C	uc002ste.2	+	5	553	c.512T>C	c.(511-513)CTC>CCC	p.L171P		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	171					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GATCTCAATCTCATCAAGGGT	0.448		NaN											0	0	0	0.009535	0	31	62				
GPAT2	150763	broad.mit.edu	37	2	96687951	96687951	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:96687951G>C	uc002svf.2	-	22	2567	c.2344C>G	c.(2344-2346)CAG>GAG	p.Q782E	LOC729234_uc010fht.2_Intron|GPAT2_uc002svd.2_Missense_Mutation_p.Q601E|GPAT2_uc002sve.2_Missense_Mutation_p.Q584E|GPAT2_uc002svg.2_Missense_Mutation_p.Q661E|GPAT2_uc010yuh.1_Missense_Mutation_p.Q711E|GPAT2_uc002svh.2_3'UTR	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	782					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						AGTTTTTCCTGATTGTCCAGG	0.562		NaN											0	0	0	0.008871	0	16	25				
REV1	51455	broad.mit.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:100020219C>T	uc002tad.2	-	19	3317	c.3105G>A	c.(3103-3105)GCG>GCA	p.A1035A	REV1_uc002tac.2_Silent_p.A1034A	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	1035					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.A1035A(1)		ovary(2)	2						TTTGATCATACGCTGCTTTCA	0.498		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	54	70				
IL18R1	8809	broad.mit.edu	37	2	102984374	102984374	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:102984374G>A	uc002tbw.3	+	3	298	c.148G>A	c.(148-150)GAA>AAA	p.E50K	IL18R1_uc010ywb.1_Missense_Mutation_p.E50K|IL18R1_uc010ywc.1_Missense_Mutation_p.E50K|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.E50K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	50	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.E50K(1)		ovary(2)|pancreas(1)	3						ACATGAGATTGAAACAACCAC	0.428		NaN											0	0	0	0.009096	0	4	45				
SLC9A4	389015	broad.mit.edu	37	2	103119941	103119941	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:103119941T>G	uc002tbz.3	+	3	1212	c.755T>G	c.(754-756)ATG>AGG	p.M252R		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	252	Extracellular (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						TTTACAAAGATGCATAAATTT	0.373		NaN											0	0	0	0.014758	0	5	31				
GCC2	9648	broad.mit.edu	37	2	109087478	109087478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:109087478C>T	uc002tec.2	+	6	1847	c.1693C>T	c.(1693-1695)CAA>TAA	p.Q565*	GCC2_uc002ted.2_Nonsense_Mutation_p.Q464*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	565	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						AAAGAACCTTCAAGAAAAGAA	0.204		NaN											0	0	0	0.001984	0	7	29				
UGGT1	56886	broad.mit.edu	37	2	128913070	128913070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:128913070C>T	uc002tps.2	+	20	2323	c.2145C>T	c.(2143-2145)TTC>TTT	p.F715F	UGGT1_uc010fme.1_Silent_p.F590F|UGGT1_uc002tpr.2_Silent_p.F691F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	715					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						CAGATAACTTCTTTGTGGATG	0.323		NaN											0	0	0	0.001168	0	6	42				
NXPH2	11249	broad.mit.edu	37	2	139428601	139428601	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:139428601T>C	uc002tvi.2	-	2	686	c.686A>G	c.(685-687)AAG>AGG	p.K229R		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	229	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCAAATGACCTTGAAGGGCTT	0.468		NaN											0	0	0	0.010504	0	21	16				
LRP1B	53353	broad.mit.edu	37	2	141806780	141806780	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:141806780C>G	uc002tvj.1	-	11	2536	c.1564G>C	c.(1564-1566)GAG>CAG	p.E522Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	522	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGAACAACTCATTCTTTGGT	0.398		NaN								TSP Lung(27;0.18)			0	0	0	0.008291	0	10	21				
BAZ2B	29994	broad.mit.edu	37	2	160194090	160194090	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160194090T>A	uc002uao.2	-	32	6000	c.5648A>T	c.(5647-5649)AAC>ATC	p.N1883I	BAZ2B_uc002uap.2_Missense_Mutation_p.N1847I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TCTTTCAATGTTCCGCTCCAA	0.483		NaN											0	0	0	0.015359	0	35	89				
BAZ2B	29994	broad.mit.edu	37	2	160206576	160206576	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160206576G>C	uc002uao.2	-	28	4858	c.4506C>G	c.(4504-4506)AAC>AAG	p.N1502K	BAZ2B_uc002uap.2_Missense_Mutation_p.N1466K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTTTCCACTGTTCTGATAAG	0.448		NaN											0	0	0	0.004007	0	17	43				
SCN1A	6323	broad.mit.edu	37	2	166850897	166850897	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:166850897G>T	uc010zcz.1	-	25	4596	c.4578C>A	c.(4576-4578)TTC>TTA	p.F1526L		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1537	Helical; Name=S1 of repeat IV; (By similarity).|IV.			F -> L (in Ref. 7; CAA46439/M91803).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCTGGTTACGAAGTCAAAGA	0.353		NaN											1	0	1.23904e-05	0.014758	1.61056e-05	4	10				
XIRP2	129446	broad.mit.edu	37	2	168105339	168105339	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:168105339G>A	uc002udx.2	+	8	7455	c.7437G>A	c.(7435-7437)CAG>CAA	p.Q2479Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q2304Q|XIRP2_uc010fpq.2_Silent_p.Q2257Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2304					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGACAAAGCAGAACGTTATTA	0.403		NaN											0	0	0	0.013537	0	13	15				
LRP2	4036	broad.mit.edu	37	2	170019001	170019001	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:170019001C>A	uc002ues.2	-	63	12081	c.11868G>T	c.(11866-11868)TGG>TGT	p.W3956C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3956	LDL-receptor class A 36.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTCATCGGACCAGTCACCAC	0.388		NaN											1	0	3.65163e-15	0.00632	5.03086e-15	27	47				
SLC25A12	8604	broad.mit.edu	37	2	172749752	172749752	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:172749752C>T	uc002uhh.2	-	2	118	c.29G>A	c.(28-30)CGA>CAA	p.R10Q	SLC25A12_uc010fqh.2_5'UTR|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	10					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGATCCCCTCGCTTAGTTGT	0.393		NaN											0	0	0	0.008361	0	27	133				
TTN	7273	broad.mit.edu	37	2	179399173	179399173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179399173C>A	uc010zfg.1	-	307	94689	c.94465G>T	c.(94465-94467)GAG>TAG	p.E31489*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E25184*|TTN_uc010zfi.1_Nonsense_Mutation_p.E25117*|TTN_uc010zfj.1_Nonsense_Mutation_p.E24992*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32416							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTCCTCTCTTTCACTAAC	0.398		NaN											1	0	1.26454e-06	0.005443	1.67527e-06	25	98				
TTN	7273	broad.mit.edu	37	2	179444828	179444828	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179444828C>G	uc010zfg.1	-	267	59706	c.59482G>C	c.(59482-59484)GCA>CCA	p.A19828P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13523P|TTN_uc010zfi.1_Missense_Mutation_p.A13456P|TTN_uc010zfj.1_Missense_Mutation_p.A13331P|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20755							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTCTCTGCATCACGTTTT	0.438		NaN											0	0	0	0.003163	0	15	106				
TTN	7273	broad.mit.edu	37	2	179578817	179578817	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179578817G>C	uc010zfg.1	-	89	23060	c.22836C>G	c.(22834-22836)ACC>ACG	p.T7612T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T4273T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8539							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTTCAGGGGTGCCAGCTA	0.413		NaN											0	0	0	0.013537	0	13	17				
TTN	7273	broad.mit.edu	37	2	179579153	179579153	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179579153A>G	uc010zfg.1	-	88	22840	c.22616T>C	c.(22615-22617)ATA>ACA	p.I7539T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I4200T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8466							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAATCCATATGTTGTCACT	0.413		NaN											0	0	0	0.004007	0	17	23				
TTN	7273	broad.mit.edu	37	2	179642507	179642507	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179642507A>C	uc010zfg.1	-	25	4628	c.4404T>G	c.(4402-4404)TGT>TGG	p.C1468W	TTN_uc010zfh.1_Missense_Mutation_p.C1422W|TTN_uc010zfi.1_Missense_Mutation_p.C1422W|TTN_uc010zfj.1_Missense_Mutation_p.C1422W|TTN_uc002unb.2_Missense_Mutation_p.C1468W|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1468							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTTCTAAACATTTGAAAG	0.418		NaN											0	0	0	0.013537	0	12	59				
DNAH7	56171	broad.mit.edu	37	2	196602713	196602713	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:196602713G>A	uc002utj.3	-	65	12108	c.12007C>T	c.(12007-12009)CCC>TCC	p.P4003S	DNAH7_uc002uti.3_Missense_Mutation_p.P486S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4003					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGGTCAGAGGGAAGAGTCATG	0.438		NaN											0	0	0	0.00308	0	7	41				
CFLAR	8837	broad.mit.edu	37	2	202000716	202000716	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:202000716G>A	uc002uxb.3	+	4	861	c.409G>A	c.(409-411)GAG>AAG	p.E137K	CFLAR_uc002uwy.2_Missense_Mutation_p.E137K|CFLAR_uc002uwz.2_Missense_Mutation_p.E137K|CFLAR_uc002uxa.3_Missense_Mutation_p.E137K|CFLAR_uc010zhk.1_Missense_Mutation_p.E41K|CFLAR_uc002uxc.3_Missense_Mutation_p.E137K|CFLAR_uc010zhl.1_Missense_Mutation_p.E41K|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.E137K|CFLAR_uc002uxe.2_Missense_Mutation_p.E137K|CFLAR_uc002uxf.2_Missense_Mutation_p.E137K|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Missense_Mutation_p.E137K|CFLAR_uc010zhm.1_Missense_Mutation_p.E41K|CFLAR_uc010fsz.2_5'UTR	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	137	Interaction with FADD.|Interaction with caspase-8.|DED 2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 propeptide.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						CCTTGTGGTTGAGTTGGAGAA	0.313		NaN											0	0	0	0.008361	0	28	139				
BMPR2	659	broad.mit.edu	37	2	203420499	203420499	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:203420499C>G	uc002uzf.3	+	12	3259	c.2111C>G	c.(2110-2112)TCT>TGT	p.S704C	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	704	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AGTACTAGTTCTAGCTTGCTT	0.443		NaN											0	0	0	0.009096	0	4	102				
ABCA12	26154	broad.mit.edu	37	2	215851389	215851389	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:215851389G>A	uc002vew.2	-	28	4260	c.4040C>T	c.(4039-4041)GCC>GTC	p.A1347V	ABCA12_uc002vev.2_Missense_Mutation_p.A1029V|ABCA12_uc010zjn.1_Missense_Mutation_p.A274V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1347	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCATGCAGGGCAACCCCGAC	0.438		NaN											0	0	0	0.014758	0	4	64				
STK36	27148	broad.mit.edu	37	2	219559043	219559043	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:219559043C>T	uc002viu.2	+	20	2659	c.2393C>T	c.(2392-2394)TCT>TTT	p.S798F	STK36_uc002viv.2_Missense_Mutation_p.S798F|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	798					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCGTCTCTCTTGTGGTA	0.458		NaN											0	0	0	0.008291	0	8	195				
COL4A3	1285	broad.mit.edu	37	2	228148486	228148486	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228148486A>T	uc002vom.1	+	33	2822	c.2660A>T	c.(2659-2661)GAA>GTA	p.E887V	COL4A3_uc002von.1_Missense_Mutation_p.E887V|COL4A3_uc002voo.1_Missense_Mutation_p.E887V|COL4A3_uc002vop.1_Missense_Mutation_p.E887V|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	887	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCATAGGTGAAGATGGAGTG	0.458		NaN											0	0	0	0.009718	0	40	111				
SPHKAP	80309	broad.mit.edu	37	2	228881823	228881823	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228881823C>T	uc002vpq.2	-	7	3794	c.3747G>A	c.(3745-3747)CTG>CTA	p.L1249L	SPHKAP_uc002vpp.2_Silent_p.L1249L|SPHKAP_uc010zlx.1_Silent_p.L1249L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1249						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCACTGTCAGCCTGGAGC	0.567		NaN											0	0	0	0.016723	0	13	91				
SPHKAP	80309	broad.mit.edu	37	2	228882099	228882099	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228882099G>C	uc002vpq.2	-	7	3518	c.3471C>G	c.(3469-3471)AGC>AGG	p.S1157R	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1157R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1157R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1157						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAATGCTGCTGGCGTTCT	0.512		NaN											0	0	0	0.008291	0	11	79				
DEFB128	245939	broad.mit.edu	37	20	168750	168750	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:168750C>T	uc002wcz.1	-	2	59	c.59G>A	c.(58-60)AGA>AAA	p.R20K		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	beta-defensin 128 precursor	20					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)	1		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTTTTTGAGTCTTGCCCCGTC	0.423		NaN											0	0	0	0.00308	0	7	95				
TMC2	117532	broad.mit.edu	37	20	2573052	2573052	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:2573052G>C	uc002wgf.1	+	8	946	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	TMC2_uc002wgg.1_Missense_Mutation_p.E295Q|TMC2_uc010zpw.1_Missense_Mutation_p.E143Q|TMC2_uc010zpx.1_Missense_Mutation_p.E142Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	311	Extracellular (Potential).					integral to membrane				ovary(3)	3						TTGGGATTTTGAGGTACTATT	0.403		NaN											0	0	0	0.01441	0	70	113				
CDC25B	994	broad.mit.edu	37	20	3783805	3783805	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:3783805G>A	uc002wjn.2	+	13	2086	c.1308G>A	c.(1306-1308)GTG>GTA	p.V436V	CDC25B_uc010zqk.1_Silent_p.V372V|CDC25B_uc010zql.1_Silent_p.V358V|CDC25B_uc010zqm.1_Silent_p.V345V|CDC25B_uc002wjl.2_Silent_p.V324V|CDC25B_uc002wjm.2_Silent_p.V324V|CDC25B_uc002wjo.2_Silent_p.V422V|CDC25B_uc002wjp.2_Silent_p.V395V|CDC25B_uc002wjq.2_Silent_p.V236V|CDC25B_uc010gbc.2_Silent_p.V17V	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	436	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						ATAAGTTTGTGATTGTAGACT	0.547		NaN											0	0	0	0.010818	0	29	55				
RIN2	54453	broad.mit.edu	37	20	19956386	19956386	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:19956386G>C	uc002wro.1	+	7	1753	c.1717G>C	c.(1717-1719)GAG>CAG	p.E573Q	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.E367Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	573					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TCAGAGCTCGGAGCTGGACCC	0.507		NaN											0	0	0	0.013537	0	12	41				
ZNF337	26152	broad.mit.edu	37	20	25656356	25656356	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:25656356C>T	uc002wva.2	-	4	2090	c.1568G>A	c.(1567-1569)CGA>CAA	p.R523Q	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R491Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R523Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R523Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	523	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTAAAGCCTCGCCCACAATC	0.488		NaN											0	0	0	0.010729	0	12	156				
MYLK2	85366	broad.mit.edu	37	20	30408240	30408240	+	Missense_Mutation	SNP	G	G	A	rs34471514		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:30408240G>A	uc002wwq.2	+	3	466	c.364G>A	c.(364-366)GAT>AAT	p.D122N		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	122					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCAGCCAGGATCCTGGAAA	0.667		NaN											0	0	0	0.015359	0	31	109				
CBFA2T2	9139	broad.mit.edu	37	20	32199130	32199130	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:32199130C>T	uc002wzg.1	+	4	973	c.436C>T	c.(436-438)CTT>TTT	p.L146F	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L137F|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L117F|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	146	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GACTCTTGTTCTTGCACTGGT	0.478		NaN											0	0	0	0.020292	0	15	134				
TRPC4AP	26133	broad.mit.edu	37	20	33596493	33596493	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:33596493C>T	uc002xbk.2	-	13	1603	c.1569G>A	c.(1567-1569)AAG>AAA	p.K523K	TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Silent_p.K114K|TRPC4AP_uc002xbl.2_Silent_p.K515K|TRPC4AP_uc010zur.1_Silent_p.K484K|TRPC4AP_uc002xbm.1_Silent_p.K523K	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	523					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGGCTCCTTCTTCATGACCT	0.507		NaN											0	0	0	0.01441	0	82	281				
CPNE1	8904	broad.mit.edu	37	20	34219936	34219936	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34219936T>A	uc002xdf.2	-	8	831	c.468A>T	c.(466-468)GGA>GGT	p.G156G	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.G161G|CPNE1_uc002xde.2_Silent_p.G132G|CPNE1_uc002xdg.2_Silent_p.G156G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.G156G|CPNE1_uc002xdi.2_Silent_p.G156G|CPNE1_uc002xdj.2_Silent_p.G156G|CPNE1_uc002xdk.2_Silent_p.G156G|CPNE1_uc002xdl.2_Silent_p.G156G|CPNE1_uc002xdm.2_Silent_p.G156G|CPNE1_uc010gfk.1_Silent_p.G156G	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	156	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GATCTGATTTTCCCAGGAAGT	0.537		NaN											0	0	0	0.021523	0	25	162				
C20orf152	140894	broad.mit.edu	37	20	34596337	34596337	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34596337C>T	uc002xes.1	+	9	1245	c.1089C>T	c.(1087-1089)TTC>TTT	p.F363F	C20orf152_uc002xer.1_Silent_p.F363F|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	363											0	Breast(12;0.00631)					GGACAAGCTTCAGCAGGAAGA	0.502		NaN											0	0	0	0.016723	0	13	147				
SRC	6714	broad.mit.edu	37	20	36030892	36030892	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36030892C>T	uc002xgx.2	+	12	1620	c.1171C>T	c.(1171-1173)CGT>TGT	p.R391C	SRC_uc002xgy.2_Missense_Mutation_p.R391C	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	391	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCGGGACCTTCGTGCAGCCAA	0.627		NaN											0	0	0	0.001168	0	6	112				
KIAA0406	9675	broad.mit.edu	37	20	36625251	36625251	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36625251G>A	uc002xhl.2	-	7	3107	c.2898C>T	c.(2896-2898)ATC>ATT	p.I966I	KIAA0406_uc002xhm.2_Silent_p.I966I	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	966							binding				0		Myeloproliferative disorder(115;0.00874)				CCCTGGCACTGATGGGGGCCT	0.597		NaN											0	0	0	0.01441	0	49	335				
MAFB	9935	broad.mit.edu	37	20	39316774	39316774	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:39316774C>T	uc002xji.2	-	1	1103	c.717G>A	c.(715-717)CTG>CTA	p.L239L		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	239	Basic motif.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				GCTTCTGCTTCAGGCGGATCA	0.632		NaN	T	IGH@	MM								0	0	0	0.00308	0	7	60				
SFRS6	6431	broad.mit.edu	37	20	42086760	42086760	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42086760C>G	uc010zwg.1	+	1	257	c.87C>G	c.(85-87)CTC>CTG	p.L29L	SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Silent_p.L29L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	29	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCGCCTCCTCGAAGTAGACC	0.647		NaN											0	0	0	0.007413	0	17	87				
TOX2	84969	broad.mit.edu	37	20	42635186	42635186	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42635186G>A	uc002xlf.3	+	3	210	c.193_splice	c.e3-1	p.T65_splice	TOX2_uc010ggo.2_Splice_Site_p.T56_splice|TOX2_uc002xle.3_Splice_Site_p.T14_splice|TOX2_uc010ggp.2_Splice_Site_p.T14_splice|TOX2_uc002xlg.2_Splice_Site_p.T14_splice	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGATGTTTTAGACCTACAACG	0.453		NaN											0	0	0	0.010818	0	30	241				
WISP2	8839	broad.mit.edu	37	20	43355830	43355830	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43355830T>A	uc002xmn.2	+	5	988	c.635T>A	c.(634-636)ATG>AAG	p.M212K	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.M212K|WISP2_uc002xmq.2_Missense_Mutation_p.W130R	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	212	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGCTGGGCATGGCCACCCGG	0.687		NaN											0	0	0	0.00874	0	43	128				
KCNK15	60598	broad.mit.edu	37	20	43379189	43379189	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43379189A>C	uc002xmr.2	+	2	767	c.703A>C	c.(703-705)ATT>CTT	p.I235L		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	235	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GCTCACGGTCATTGGCGCCTT	0.612		NaN											0	0	0	0.01441	0	46	193				
PI3	5266	broad.mit.edu	37	20	43804728	43804728	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43804728G>A	uc002xng.2	+	2	330	c.306G>A	c.(304-306)AAG>AAA	p.K102K		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	102	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				CAGGAATCAAGAAGTGCTGTG	0.542		NaN											0	0	0	0.00499	0	16	134				
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:46279914C>T	uc002xtk.2	+	20	4045	c.3840C>T	c.(3838-3840)TTC>TTT	p.F1280F	NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1280	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CCCAGGCCTTCAGCCCACCTC	0.308		NaN											0	0	0	0.01892	0	25	100				
PREX1	57580	broad.mit.edu	37	20	47274684	47274684	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:47274684G>A	uc002xtw.1	-	17	1987	c.1964C>T	c.(1963-1965)TCG>TTG	p.S655L	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	655	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCAGCCAGCGAGCCCCTCTG	0.657		NaN									OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	285	545				
SLC9A8	23315	broad.mit.edu	37	20	48503325	48503325	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:48503325A>G	uc002xuv.1	+	15	1738	c.1528A>G	c.(1528-1530)ACG>GCG	p.T510A	SLC9A8_uc010zym.1_Missense_Mutation_p.T210A|SLC9A8_uc010gid.2_Missense_Mutation_p.T134A	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	510						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTCGGAGCTCACGGAGGAGGA	0.647		NaN											0	0	0	0.01441	0	100	100				
PCK1	5105	broad.mit.edu	37	20	56136482	56136482	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:56136482G>A	uc002xyn.3	+	2	178	c.15G>A	c.(13-15)CTG>CTA	p.L5L	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	5					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCCTCAGCTGCAAAACGGCC	0.527		NaN											0	0	0	0.010771	0	38	227				
GNAS	2778	broad.mit.edu	37	20	57429712	57429712	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:57429712T>A	uc002xzw.2	+	1	1677	c.1392T>A	c.(1390-1392)GAT>GAA	p.D464E	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCAGCCGATCCAGATGCCG	0.796		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	0.001984	0	7	3				
PRIC285	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62196310C>G	uc002yfm.2	-	9	4757	c.3865G>C	c.(3865-3867)GAG>CAG	p.E1289Q	PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1289					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGCTGGCCTCAGGCAGCACC	0.672		NaN											0	0	0	0.004482	0	9	51				
UCKL1	54963	broad.mit.edu	37	20	62571633	62571633	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62571633G>A	uc010gkn.2	-	14	1480	c.1437C>T	c.(1435-1437)ATC>ATT	p.I479I	UCKL1_uc002yhj.2_Silent_p.I122I|UCKL1_uc011abm.1_Silent_p.I464I|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	479					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAGCAAAAAGATCTTGTCCT	0.587		NaN											0	0	0	0.021022	0	34	53				
PRPF6	24148	broad.mit.edu	37	20	62624835	62624835	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62624835C>G	uc002yho.2	+	4	603	c.435C>G	c.(433-435)CTC>CTG	p.L145L	PRPF6_uc002yhp.2_Silent_p.L145L	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	145					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCTCAGACCTCAAGGTGAGCC	0.463		NaN											0	0	0	0.004656	0	23	38				
HSPA13	6782	broad.mit.edu	37	21	15746243	15746243	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:15746243C>G	uc002yjt.2	-	5	1180	c.1111G>C	c.(1111-1113)GAT>CAT	p.D371H	HSPA13_uc011abx.1_Missense_Mutation_p.D163H	NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	371						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1						TTAAGGGTATCAAAGAGTTTC	0.408		NaN											0	0	0	0.007835	0	40	115				
KRTAP13-3	337960	broad.mit.edu	37	21	31798111	31798111	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:31798111G>A	uc002yob.1	-	1	120	c.120C>T	c.(118-120)CTC>CTT	p.L40L		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	40						intermediate filament				ovary(1)|lung(1)	2						TGGGAGAGCAGAGGTCAGTGC	0.582		NaN											0	0	0	0.004482	0	8	82				
SON	6651	broad.mit.edu	37	21	34927545	34927545	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:34927545C>T	uc002yse.1	+	3	6057	c.6008C>T	c.(6007-6009)TCT>TTT	p.S2003F	SON_uc002ysb.1_Missense_Mutation_p.S2003F|SON_uc002ysc.2_Missense_Mutation_p.S2003F|SON_uc002ysd.2_Missense_Mutation_p.S994F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S994F	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	2003	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-2.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGATCAAGGTCTGTGGTAAGA	0.254		NaN											0	0	0	0.004656	0	25	126				
DOPEY2	9980	broad.mit.edu	37	21	37602841	37602841	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:37602841G>C	uc002yvg.2	+	14	1838	c.1759G>C	c.(1759-1761)GAG>CAG	p.E587Q	DOPEY2_uc011aeb.1_Missense_Mutation_p.E587Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	587					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TCTGAAGTCTGAGGACAGTGG	0.507		NaN											0	0	0	0.007291	0	29	137				
DSCR3	10311	broad.mit.edu	37	21	38612875	38612875	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:38612875C>G	uc002ywf.1	-	3	362	c.123G>C	c.(121-123)TTG>TTC	p.L41F	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.L41F|DSCR3_uc011aeg.1_Missense_Mutation_p.L41F|DSCR3_uc011aeh.1_Intron	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	41					vacuolar transport	nucleus|retromer complex					0						CTTCCATGGTCAAAGACACTC	0.443		NaN											0	0	0	0.014758	0	4	96				
LCA5L	150082	broad.mit.edu	37	21	40800153	40800153	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:40800153C>T	uc002yxu.2	-	4	580	c.267G>A	c.(265-267)GTG>GTA	p.V89V	LCA5L_uc002yxv.2_Silent_p.V89V|LCA5L_uc002yxw.1_Silent_p.V89V|LCA5L_uc002yxx.1_Intron|LCA5L_uc002yxy.2_RNA	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89											0		Prostate(19;1.2e-06)				TTTCTTTTACCACAGGCTGCT	0.323		NaN											0	0	0	0.01441	0	54	107				
UBASH3A	53347	broad.mit.edu	37	21	43833287	43833287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:43833287G>A	uc002zbe.2	+	4	545	c.509G>A	c.(508-510)CGG>CAG	p.R170Q	UBASH3A_uc002zbf.2_Missense_Mutation_p.R170Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.R170Q	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	170						cytosol|nucleus				ovary(3)	3						GACGTCATCCGGGAATTCGCC	0.622		NaN											0	0	0	0.016522	0	20	139				
LRRC3	81543	broad.mit.edu	37	21	45876889	45876889	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:45876889C>G	uc002zfa.2	+	2	655	c.362C>G	c.(361-363)TCT>TGT	p.S121C		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	121	LRR 3.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTGGACCTGTCTTACAACCGC	0.672		NaN											0	0	0	0.014323	0	19	60				
KRTAP10-10	353333	broad.mit.edu	37	21	46058039	46058039	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:46058039C>T	uc002zfq.2	+	1	767	c.705C>T	c.(703-705)TGC>TGT	p.C235C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	235						keratin filament					0						GCCCCGTGTGCTCCCGCCCTG	0.697		NaN											0	0	0	0.01441	0	61	178				
HIRA	7290	broad.mit.edu	37	22	19384471	19384471	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19384471C>T	uc002zpf.1	-	7	714	c.494_splice	c.e7-1	p.E165_splice	HIRA_uc011agx.1_Splice_Site_p.E31_splice|HIRA_uc010grn.1_Splice_Site_p.E165_splice|HIRA_uc010gro.1_Splice_Site_p.E121_splice|HIRA_uc010grp.2_Splice_Site	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					GCTAGAATTTCTGTGAAGAAA	0.483		NaN											0	0	0	0.016723	0	13	64				
ARVCF	421	broad.mit.edu	37	22	19967410	19967410	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19967410G>A	uc002zqz.2	-	6	1523	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	ARVCF_uc002zqy.2_5'Flank	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	418	ARM 2.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CAGGCCCGGCGCCGCACCTCA	0.687		NaN											0	0	0	0.001168	0	5	14				
CABIN1	23523	broad.mit.edu	37	22	24439456	24439456	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:24439456G>A	uc002zzi.1	+	6	563	c.436G>A	c.(436-438)GCT>ACT	p.A146T	CABIN1_uc002zzj.1_Missense_Mutation_p.A146T|CABIN1_uc002zzl.1_Missense_Mutation_p.A146T|CABIN1_uc010guk.1_Missense_Mutation_p.A101T|CABIN1_uc002zzk.1_Missense_Mutation_p.A101T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	146	TPR 3.				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGCTCGCCATGCTTTTGAGGA	0.537		NaN											0	0	0	0.014323	0	22	83				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:29091841G>A	uc003adu.1	-	11	1188	c.1116C>T	c.(1114-1116)TCC>TCT	p.S372S	CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	372	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(1)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCAAAATCTTGGAGTGCCCAA	0.413		NaN	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				0	0	0	0.006122	0	8	55				
PATZ1	23598	broad.mit.edu	37	22	31731850	31731850	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:31731850C>G	uc003akq.2	-	3	1997	c.1336_splice	c.e3-1	p.T446_splice	PATZ1_uc003akp.2_Splice_Site_p.T446_splice|PATZ1_uc003akr.2_Splice_Site_p.T446_splice	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CATTGCAGGTCTGAAGGCAGA	0.552		NaN											0	0	0	0.009096	0	4	76				
L3MBTL2	83746	broad.mit.edu	37	22	41625593	41625593	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:41625593G>A	uc003azo.2	+	16	1992	c.1938G>A	c.(1936-1938)AAG>AAA	p.K646K	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	646					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						AGGGGTCCAAGAAGCCCCTGC	0.557		NaN											0	0	0	0.020292	0	15	40				
PARVB	29780	broad.mit.edu	37	22	44514968	44514968	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:44514968G>A	uc003ben.2	+	4	376	c.324G>A	c.(322-324)GTG>GTA	p.V108V	PARVB_uc003bem.2_Silent_p.V141V|PARVB_uc010gzn.2_Silent_p.V56V|PARVB_uc003beo.2_Silent_p.V71V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	108	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGATCATTGTGAAGCAGCTGG	0.587		NaN											0	0	0	0.01441	0	48	149				
FBLN1	2192	broad.mit.edu	37	22	45970446	45970446	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:45970446G>A	uc003bgj.1	+	15	1900	c.1753G>A	c.(1753-1755)GAT>AAT	p.D585N		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	585					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCGCCCCAACGATGTCACATG	0.627		NaN											0	0	0	0.013537	0	12	47				
PKDREJ	10343	broad.mit.edu	37	22	46655230	46655230	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:46655230C>G	uc003bhh.2	-	1	3990	c.3990G>C	c.(3988-3990)CAG>CAC	p.Q1330H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1330	Cytoplasmic (Potential).|PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAGCCATTTCTGGCATATGA	0.418		NaN											0	0	0	0.01441	0	51	83				
ZBED4	9889	broad.mit.edu	37	22	50277651	50277651	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50277651C>A	uc003bix.2	+	2	811	c.341C>A	c.(340-342)TCC>TAC	p.S114Y		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	114						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACATGAGCTCCAGGAAGAAG	0.532		NaN											1	0	9.39395e-14	0.00632	1.28991e-13	26	67				
PLXNB2	23654	broad.mit.edu	37	22	50722117	50722117	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50722117C>A	uc003bkv.3	-	15	2590	c.2484G>T	c.(2482-2484)TTG>TTT	p.L828F	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	828	Extracellular (Potential).|IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGGACGCCCAAATTGGACC	0.647		NaN											1	0	3.07112e-06	0.010729	4.04274e-06	12	34				
ODF3B	440836	broad.mit.edu	37	22	50969699	50969699	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50969699C>G	uc003bmh.2	-	4	476	c.339G>C	c.(337-339)GGG>GGC	p.G113G	TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.E90Q	NM_001014440	NP_001014440	A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	113											0						ACGTCGCGTTCCCCGCTCGCT	0.677		NaN											0	0	0	0.016723	0	12	40				
CHL1	10752	broad.mit.edu	37	3	424356	424356	+	Splice_Site	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:424356T>A	uc003bou.2	+	17	2399	c.2128_splice	c.e17+2	p.A710_splice	CHL1_uc003bot.2_Splice_Site_p.A726_splice|CHL1_uc003bow.1_Splice_Site_p.A710_splice|CHL1_uc011asi.1_Splice_Site_p.A726_splice|uc003box.1_RNA	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACCAGCAGGTATGCAGGTTC	0.413		NaN											0	0	0	0.00308	0	7	14				
ITPR1	3708	broad.mit.edu	37	3	4715070	4715070	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:4715070G>A	uc003bqa.2	+	21	2803	c.2455G>A	c.(2455-2457)GAC>AAC	p.D819N	ITPR1_uc010hca.1_Missense_Mutation_p.D804N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D804N	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	819	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CGCCATTGACGAGTGAGCCTG	0.498		NaN											0	0	0	0.010818	0	27	141				
BRPF1	7862	broad.mit.edu	37	3	9783835	9783835	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9783835G>A	uc003bse.2	+	6	2380	c.1981G>A	c.(1981-1983)GAG>AAG	p.E661K	BRPF1_uc003bsf.2_Missense_Mutation_p.E661K|BRPF1_uc003bsg.2_Missense_Mutation_p.E661K|BRPF1_uc011ati.1_Missense_Mutation_p.E661K	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	661	Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.|Bromo.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CCCTCTGTCTGAGGTAACCGA	0.557		NaN											0	0	0	0.014323	0	21	89				
JAGN1	84522	broad.mit.edu	37	3	9934620	9934620	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9934620C>G	uc003btt.3	+	2	247	c.111C>G	c.(109-111)ATC>ATG	p.I37M	CIDEC_uc003bto.2_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1	37	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(1)	1	Medulloblastoma(99;0.227)					AGTATGAAATCAAGAAGCTGA	0.383		NaN											0	0	0	0.014758	0	5	86				
RPL15	6138	broad.mit.edu	37	3	23959373	23959373	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:23959373A>G	uc003ccn.2	+	2	59	c.23A>G	c.(22-24)CAG>CGG	p.Q8R	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Missense_Mutation_p.Q8R|RPL15_uc011awj.1_Missense_Mutation_p.Q8R|RPL15_uc003cco.2_Missense_Mutation_p.Q8R|RPL15_uc003ccp.2_Missense_Mutation_p.Q8R|RPL15_uc003ccq.2_Missense_Mutation_p.Q8R|RPL15_uc003ccr.2_Missense_Mutation_p.Q8R	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	8					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1						AAGTACATCCAGGAGCTATGG	0.493		NaN											0	0	0	0.007291	0	25	46				
OXSM	54995	broad.mit.edu	37	3	25832554	25832554	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:25832554C>A	uc003cdn.2	+	2	150	c.43C>A	c.(43-45)CGT>AGT	p.R15S	NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.R15S	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	15					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						TACAAGCACTCGTCTTCTATG	0.388		NaN											1	0	2.89027e-11	0.014323	3.92963e-11	24	60				
SLC4A7	9497	broad.mit.edu	37	3	27446455	27446455	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:27446455C>G	uc003cdv.2	-	14	1986	c.1915_splice	c.e14-1	p.S639_splice	SLC4A7_uc011awu.1_Splice_Site|SLC4A7_uc011awv.1_Splice_Site|SLC4A7_uc003cdu.3_Splice_Site_p.S520_splice|SLC4A7_uc011aww.1_Splice_Site_p.S648_splice|SLC4A7_uc011awx.1_Splice_Site_p.S635_splice|SLC4A7_uc011awy.1_Splice_Site_p.S631_splice|SLC4A7_uc011awz.1_Splice_Site|SLC4A7_uc011axa.1_Splice_Site_p.S520_splice|SLC4A7_uc011axb.1_Splice_Site_p.S635_splice|SLC4A7_uc010hfl.2_Splice_Site_p.S189_splice|SLC4A7_uc003cdw.2_Splice_Site_p.S515_splice	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate							apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CTATTGCACTCTGTTTAAGGA	0.353		NaN											0	0	0	0.008291	0	9	29				
ZNF620	253639	broad.mit.edu	37	3	40553923	40553923	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:40553923C>G	uc003ckk.2	+	4	331	c.182C>G	c.(181-183)TCC>TGC	p.S61C	ZNF620_uc003ckl.2_Intron	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTTCTGGTCTCCCAGCTGGAG	0.572		NaN											0	0	0	0.004656	0	25	12				
ULK4	54986	broad.mit.edu	37	3	41942279	41942280	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:41942279_41942280TC>AA	uc003ckv.3	-	13	1425_1426	c.1224_1225GA>TT	c.(1222-1227)CAGATG>CATTTG	p.408_409QM>HL	ULK4_uc003ckw.2_Missense_Mutation_p.408_409QM>HL|ULK4_uc003ckx.1_Missense_Mutation_p.408_409QM>HL	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	408_409							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCTCTCTCATCTGGGATTCCA	0.411		NaN											0	0	0	0.004672	0	50	179				
ZNF445	353274	broad.mit.edu	37	3	44488486	44488486	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44488486C>T	uc003cnf.2	-	8	3025	c.2677G>A	c.(2677-2679)GAG>AAG	p.E893K	ZNF445_uc011azv.1_Missense_Mutation_p.E881K|ZNF445_uc011azw.1_Missense_Mutation_p.E893K	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	893					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAAGGTCTCTCTGTAGAGTGG	0.453		NaN											0	0	0	0.007291	0	27	95				
ZNF502	91392	broad.mit.edu	37	3	44763893	44763893	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44763893C>T	uc011baa.1	+	4	1839	c.1584C>T	c.(1582-1584)TTC>TTT	p.F528F	ZNF502_uc003cns.2_Silent_p.F528F|ZNF502_uc011bab.1_Silent_p.F528F|ZNF502_uc003cnt.2_Silent_p.F528F	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	528	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAGTTCTTCAGACATAGTT	0.413		NaN											0	0	0	0.004482	0	9	41				
DHX30	22907	broad.mit.edu	37	3	47887268	47887268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:47887268G>T	uc003cru.2	+	10	1444	c.1018G>T	c.(1018-1020)GAG>TAG	p.E340*	DHX30_uc003crt.2_Nonsense_Mutation_p.E301*|DHX30_uc010hjr.1_Nonsense_Mutation_p.E368*	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	340						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTGGGTGAGACCCAGCG	0.597		NaN											1	0	6.05902e-23	0.017118	8.50317e-23	35	26				
COL7A1	1294	broad.mit.edu	37	3	48612135	48612135	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48612135C>A	uc003ctz.2	-	77	6369	c.6368G>T	c.(6367-6369)GGT>GTT	p.G2123V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2123	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTGGTCACCATTGCTGCC	0.597		NaN											1	0	2.17888e-05	0.006214	2.82776e-05	9	47				
CELSR3	1951	broad.mit.edu	37	3	48698069	48698069	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48698069C>A	uc003cul.2	-	1	2280	c.1999G>T	c.(1999-2001)GGT>TGT	p.G667C	CELSR3_uc003cuf.1_Missense_Mutation_p.G737C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	667	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGAGTGACCCAAGGGAGCA	0.517		NaN											1	0	5.3912e-06	0.006122	7.052e-06	17	42				
USP4	7375	broad.mit.edu	37	3	49363263	49363263	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49363263G>A	uc003cwq.2	-	4	455	c.376C>T	c.(376-378)CTG>TTG	p.L126L	USP4_uc003cwr.2_Silent_p.L126L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	126					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGACAAACAGGCCATGCTCC	0.498		NaN											0	0	0	0.007835	0	35	119				
RHOA	387	broad.mit.edu	37	3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49400019G>C	uc003cwu.2	-	4	594	c.318C>G	c.(316-318)TTC>TTG	p.F106L	RHOA_uc010hku.2_Missense_Mutation_p.F25L	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	106					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTTGGGACAGAAATGCTTGA	0.443		NaN											0	0	0	0.01441	0	46	46		Valid		
DOCK3	1795	broad.mit.edu	37	3	51112865	51112865	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:51112865T>C	uc011bds.1	+	7	566	c.543T>C	c.(541-543)TAT>TAC	p.Y181Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	181						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGATCTCTATAAGATGGTAA	0.393		NaN											0	0	0	0.00308	0	8	0				
COL8A1	1295	broad.mit.edu	37	3	99513764	99513764	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:99513764G>A	uc003dtg.1	+	5	1264	c.1019G>A	c.(1018-1020)GGG>GAG	p.G340E	COL8A1_uc003dth.1_Missense_Mutation_p.G340E|COL8A1_uc003dti.1_Missense_Mutation_p.G341E	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	340	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GGACTGCCAGGGCTACCAGGA	0.627		NaN											0	0	0	0.009096	0	4	62				
GPR128	84873	broad.mit.edu	37	3	100362453	100362453	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:100362453C>G	uc003duc.2	+	8	1190	c.922C>G	c.(922-924)CAG>GAG	p.Q308E	GPR128_uc011bhc.1_Intron	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	308	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						GACTGAGCTTCAGGTCTTGCT	0.363		NaN											0	0	0	0.013114	0	45	28				
SIDT1	54847	broad.mit.edu	37	3	113327035	113327035	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:113327035G>T	uc003eak.2	+	16	2224	c.1573G>T	c.(1573-1575)GCC>TCC	p.A525S	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.A525S|SIDT1_uc011big.1_Missense_Mutation_p.A278S|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	525	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCATCGGAGAGCCCTGGAAGC	0.542		NaN											1	0	1.64293e-13	0.01892	2.25223e-13	26	125				
NR1I2	8856	broad.mit.edu	37	3	119535943	119535943	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:119535943C>A	uc003edj.2	+	9	3028	c.1189C>A	c.(1189-1191)CTC>ATC	p.L397I	NR1I2_uc003edi.2_Missense_Mutation_p.L360I|NR1I2_uc003edk.2_Missense_Mutation_p.L436I|NR1I2_uc003edl.2_Missense_Mutation_p.L285I	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	397	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CATGGCTATGCTCACCGAGCT	0.592		NaN											1	0	3.05275e-18	0.013114	4.25534e-18	44	91				
POLQ	10721	broad.mit.edu	37	3	121209029	121209029	+	Missense_Mutation	SNP	C	C	T	rs149007312	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:121209029C>T	uc003eee.3	-	16	2878	c.2749G>A	c.(2749-2751)GAA>AAA	p.E917K	POLQ_uc003eed.2_Missense_Mutation_p.E89K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	917					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCCTTTACTTCGGACTCACTA	0.338		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	0.007835	0	42	46				
ZNF148	7707	broad.mit.edu	37	3	124951899	124951899	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:124951899C>G	uc003ehx.3	-	9	2157	c.1671G>C	c.(1669-1671)GAG>GAC	p.E557D	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E557D|ZNF148_uc010hsa.2_Missense_Mutation_p.E557D|ZNF148_uc003eia.3_Missense_Mutation_p.E557D|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	557					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						TGAAGGATATCTCATGCTGTC	0.398		NaN											0	0	0	0.004482	0	8	44				
C3orf22	152065	broad.mit.edu	37	3	126272147	126272147	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:126272147G>A	uc003ejb.2	-	2	416	c.87C>T	c.(85-87)TAC>TAT	p.Y29Y		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	29											0				GBM - Glioblastoma multiforme(114;0.147)		TCCCGCACCTGTACGGAAACT	0.567		NaN											0	0	0	0.003163	0	15	638				
NEK11	79858	broad.mit.edu	37	3	130828671	130828671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:130828671C>T	uc003eny.2	+	5	687	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	NEK11_uc003enx.2_Nonsense_Mutation_p.Q121*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q121*|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Nonsense_Mutation_p.Q121*|NEK11_uc003enw.1_Nonsense_Mutation_p.Q121*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q121*|NEK11_uc010hto.1_5'UTR	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	121	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						CGATAAAATTCAGGAATATAA	0.338		NaN											0	0	0	0.013726	0	31	24				
PLCH1	23007	broad.mit.edu	37	3	155203300	155203300	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:155203300T>A	uc011bok.1	-	22	3120	c.2843A>T	c.(2842-2844)GAG>GTG	p.E948V	PLCH1_uc011boj.1_Missense_Mutation_p.E948V|PLCH1_uc011bol.1_Missense_Mutation_p.E910V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	948					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTGTGGCCTCGGACACAGA	0.522		NaN											0	0	0	0.013114	0	43	132				
SI	6476	broad.mit.edu	37	3	164750379	164750379	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:164750379T>A	uc003fei.2	-	24	2729	c.2667A>T	c.(2665-2667)GAA>GAT	p.E889D		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	889	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACTCTAACTTCTGTAACAC	0.348		NaN								HNSCC(35;0.089)			0	0	0	0.010729	0	10	8				
SERPINI2	5276	broad.mit.edu	37	3	167183097	167183097	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:167183097C>G	uc003fer.1	-	4	821	c.763G>C	c.(763-765)GAA>CAA	p.E255Q	SERPINI2_uc003fes.1_Missense_Mutation_p.E265Q|SERPINI2_uc003fet.1_Missense_Mutation_p.E255Q	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	255					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TCCATACCTTCTGCAGGAAGT	0.358		NaN											0	0	0	0.010729	0	11	102				
DCUN1D1	54165	broad.mit.edu	37	3	182681826	182681826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:182681826C>A	uc003fld.1	-	3	281	c.232G>T	c.(232-234)GAG>TAG	p.E78*	DCUN1D1_uc011bqn.1_5'UTR	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	78	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTTTATTCTCATCTTGAGGG	0.353		NaN											1	0	2.7689e-08	0.001984	3.69782e-08	7	48				
C3orf70	285382	broad.mit.edu	37	3	184801154	184801154	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:184801154C>T	uc003fpd.2	-	2	585	c.394G>A	c.(394-396)GAC>AAC	p.D132N		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	132											0						TGATAGTTGTCAATAAAAAGG	0.468		NaN											0	0	0	0.010504	0	20	113				
ETV5	2119	broad.mit.edu	37	3	185798944	185798944	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:185798944G>C	uc003fpz.2	-	6	500	c.253C>G	c.(253-255)CCA>GCA	p.P85A	ETV5_uc003fpy.2_Missense_Mutation_p.P127A	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	85					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTGGTTGGAGGTGGGGCA	0.512		NaN	T	TMPRSS2|SCL45A3	Prostate 								0	0	0	0.01441	0	85	104				
LPP	4026	broad.mit.edu	37	3	188327375	188327375	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:188327375G>A	uc003frs.1	+	6	1102	c.856G>A	c.(856-858)GGG>AGG	p.G286R	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G286R|LPP_uc003frt.2_Missense_Mutation_p.G286R|LPP_uc011bsj.1_Missense_Mutation_p.G123R	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	286	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCGGAGCCTGGGTATGGGTA	0.567		NaN	T	HMGA2|MLL|C12orf9	lipoma|leukemia								0	0	0	0.010729	0	11	96				
PIGG	54872	broad.mit.edu	37	4	494383	494383	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:494383G>A	uc003gak.3	+	2	489	c.353G>A	c.(352-354)CGA>CAA	p.R118Q	PIGG_uc003gaj.3_Missense_Mutation_p.R118Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.R118Q|PIGG_uc003gal.3_Missense_Mutation_p.R29Q|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_Missense_Mutation_p.R29Q|PIGG_uc003gan.2_Missense_Mutation_p.R29Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	118	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACTATGCCTCGAATCAAGGTA	0.408		NaN											0	0	0	0.01892	0	23	18				
PDE6B	5158	broad.mit.edu	37	4	628477	628477	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:628477C>T	uc003gap.2	+	2	533	c.480C>T	c.(478-480)TTC>TTT	p.F160F	PDE6B_uc003gao.3_Silent_p.F160F	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	160	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GCCCTCACTTCAGCTCATTTG	0.567		NaN											0	0	0	0.005524	0	35	76				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:1803568C>G	uc003gdr.3	+	7	1002	c.746C>G	c.(745-747)TCC>TGC	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	249	Extracellular (Potential).		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.562		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.013726	0	22	15		Valid		
OTOP1	133060	broad.mit.edu	37	4	4199019	4199019	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4199019C>G	uc003ghp.1	-	5	1572	c.1542G>C	c.(1540-1542)GAG>GAC	p.E514D		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	514					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCCTGCTTCTCCTCCTCCT	0.577		NaN											0	0	0	0.014323	0	20	70				
ZBTB49	166793	broad.mit.edu	37	4	4314802	4314802	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4314802C>G	uc003ghu.2	+	5	1512	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CGACGGCATTCTGGTGAAAAA	0.413		NaN											0	0	0	0.01892	0	19	47				
EVC2	132884	broad.mit.edu	37	4	5586480	5586480	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:5586480G>C	uc003gij.2	-	17	2981	c.2927C>G	c.(2926-2928)TCC>TGC	p.S976C	EVC2_uc011bwb.1_Missense_Mutation_p.S416C|EVC2_uc003gik.2_Missense_Mutation_p.S896C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	976						integral to membrane				large_intestine(3)|ovary(2)	5						GGTCACCCGGGACGCCTTCTG	0.607		NaN											0	0	0	0.006122	0	16	35				
TXK	7294	broad.mit.edu	37	4	48106974	48106974	+	Splice_Site	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:48106974T>C	uc003gxx.3	-	6	533	c.447_splice	c.e6-1	p.E149_splice	TXK_uc003gxy.1_Splice_Site_p.E149_splice	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase							cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGGTACCACCTGTAAAAGCaa	0.274		NaN											0	0	0	0.006214	0	10	19				
LPHN3	23284	broad.mit.edu	37	4	62849142	62849142	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:62849142C>A	uc010ihh.2	+	16	3026	c.2853C>A	c.(2851-2853)TTC>TTA	p.F951L	LPHN3_uc003hcq.3_Missense_Mutation_p.F951L|LPHN3_uc003hct.2_Missense_Mutation_p.F344L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	938	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ATTTCTTCTTCTTGGCTGCCT	0.433		NaN											1	0	0.00024832	0.009096	0.000317298	4	16				
COPS4	51138	broad.mit.edu	37	4	83984325	83984325	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:83984325G>A	uc003hoa.2	+	7	951	c.812G>A	c.(811-813)AGG>AAG	p.R271K	COPS4_uc003hob.2_Missense_Mutation_p.R271K|COPS4_uc010ijw.2_Missense_Mutation_p.R271K|COPS4_uc010ijx.2_Missense_Mutation_p.R271K	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	271	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				TATCTAGATAGGATCATCAGA	0.428		NaN											0	0	0	0.007413	0	20	45				
WDFY3	23001	broad.mit.edu	37	4	85634326	85634326	+	Silent	SNP	C	C	A	rs150169644	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:85634326C>A	uc003hpd.2	-	51	8436	c.8028G>T	c.(8026-8028)ACG>ACT	p.T2676T	WDFY3_uc003hpe.1_Silent_p.T287T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2676						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACTCGTGTTTGGTC	0.383		NaN											1	0	1.85257e-25	0.01441	2.60873e-25	59	158				
HSD17B13	345275	broad.mit.edu	37	4	88238286	88238286	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:88238286C>A	uc003hqo.2	-	3	471	c.408G>T	c.(406-408)GAG>GAT	p.E136D	HSD17B13_uc010ikk.2_Missense_Mutation_p.E100D	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	136						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCTTGGTAATCTCTTCATCCT	0.403		NaN											1	0	0.00400662	0.004007	0.00503412	15	54				
PDHA2	5161	broad.mit.edu	37	4	96761707	96761707	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:96761707C>T	uc003htr.3	+	1	469	c.406C>T	c.(406-408)CTG>TTG	p.L136L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	136					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCTCGCAGAGCTGACGGGAAG	0.517		NaN											0	0	0	0.010504	0	20	56				
MANBA	4126	broad.mit.edu	37	4	103571706	103571706	+	Missense_Mutation	SNP	G	G	C	rs141009346		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:103571706G>C	uc003hwg.2	-	13	1957	c.1857C>G	c.(1855-1857)ATC>ATG	p.I619M	MANBA_uc011ces.1_Missense_Mutation_p.I562M	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	619					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAGTAAGGTAGATGGTATCTT	0.363		NaN											0	0	0	0.00308	0	7	32				
KIAA1109	84162	broad.mit.edu	37	4	123117944	123117944	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:123117944A>C	uc003ieh.2	+	10	1252	c.1207A>C	c.(1207-1209)AGG>CGG	p.R403R	KIAA1109_uc003iei.1_Silent_p.R157R|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	403					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TACCAAAAATAGGGtaattat	0.284		NaN											0	0	0	0.010729	0	12	27				
PDGFC	56034	broad.mit.edu	37	4	157684305	157684305	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:157684305G>C	uc003iph.1	-	6	1466	c.975C>G	c.(973-975)ACC>ACG	p.T325T	PDGFC_uc003ipi.1_Silent_p.T162T|PDGFC_uc011cis.1_Silent_p.T162T|PDGFC_uc011cir.1_Silent_p.T169T	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	325					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGGCCACGTCGGTGAGTGATT	0.527		NaN											0	0	0	0.010729	0	10	27				
TLL1	7092	broad.mit.edu	37	4	167020652	167020652	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:167020652G>T	uc003irh.1	+	20	3527	c.2880G>T	c.(2878-2880)GTG>GTT	p.V960V	TLL1_uc011cjn.1_Silent_p.V983V|TLL1_uc011cjo.1_Silent_p.V784V	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	960	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACAGCTGTGGGGCTTGGTC	0.433		NaN											1	0	4.36969e-10	0.016723	5.90229e-10	13	37				
CBR4	84869	broad.mit.edu	37	4	169931103	169931103	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:169931103G>A	uc003iry.2	-	1	320	c.138C>T	c.(136-138)CTC>CTT	p.L46L	CBR4_uc011cjy.1_RNA|CBR4_uc003irz.1_Silent_p.L46L	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	carbonic reductase 4	46					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding				0		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACCTACCGCCGAGGTCACCGG	0.587		NaN									OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.010729	0	10	26				
VEGFC	7424	broad.mit.edu	37	4	177608517	177608517	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:177608517G>C	uc003ius.1	-	6	1399	c.969C>G	c.(967-969)CTC>CTG	p.L323L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	323	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCTGGGGAAGAGTTTGTTTT	0.502		NaN											0	0	0	0.010818	0	28	75				
SLC12A7	10723	broad.mit.edu	37	5	1087072	1087072	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:1087072C>T	uc003jbu.2	-	6	687	c.621G>A	c.(619-621)CTG>CTA	p.L207L		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	207	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTCGTGCCCAGGTAGAAGC	0.587		NaN											0	0	0	0.007413	0	19	82				
IRX2	153572	broad.mit.edu	37	5	2748596	2748596	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:2748596C>A	uc003jda.2	-	3	1468	c.1226G>T	c.(1225-1227)CGG>CTG	p.R409L	IRX2_uc003jdb.2_Missense_Mutation_p.R409L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		AGAGTTGTACCGCAGGAGACC	0.716		NaN											1	0	8.16721e-17	0.010818	1.13274e-16	31	67				
ADAMTS16	170690	broad.mit.edu	37	5	5190099	5190099	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:5190099A>T	uc003jdl.2	+	7	1201	c.1063A>T	c.(1063-1065)AGT>TGT	p.S355C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S355C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S355C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ACTGGTGATAAGTCACCACGC	0.473		NaN											0	0	0	0.013537	0	11	110				
ADCY2	108	broad.mit.edu	37	5	7695884	7695884	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7695884G>A	uc003jdz.1	+	6	956	c.889G>A	c.(889-891)GTT>ATT	p.V297I	ADCY2_uc011cmo.1_Missense_Mutation_p.V117I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	297	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CGCTGACATCGTTGGCTTTAC	0.408		NaN											0	0	0	0.015359	0	34	57				
FASTKD3	79072	broad.mit.edu	37	5	7867275	7867275	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7867275G>C	uc003jeb.2	-	2	1059	c.922C>G	c.(922-924)CAA>GAA	p.Q308E	FASTKD3_uc011cmp.1_Missense_Mutation_p.Q10E|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	308					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						GCTTGACTTTGATCAAGAACC	0.393		NaN											0	0	0	0.005443	0	25	204				
CTNND2	1501	broad.mit.edu	37	5	11098851	11098851	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:11098851C>A	uc003jfa.1	-	15	2618	c.2473G>T	c.(2473-2475)GTA>TTA	p.V825L	CTNND2_uc010itt.2_Missense_Mutation_p.V734L|CTNND2_uc011cmy.1_Missense_Mutation_p.V488L|CTNND2_uc011cmz.1_Missense_Mutation_p.V392L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V392L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	825					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AGAGGTCCTACTCCATCCCAC	0.468		NaN											1	0	3.86212e-05	0.008291	4.98105e-05	9	83				
TRIO	7204	broad.mit.edu	37	5	14381300	14381300	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14381300C>G	uc003jff.2	+	21	3515	c.3509C>G	c.(3508-3510)TCC>TGC	p.S1170C	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S1121C|TRIO_uc003jfh.1_Missense_Mutation_p.S819C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1170	Spectrin 4.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCCACGGGCTCCAGTATACAG	0.512		NaN											0	0	0	0.01441	0	70	130				
TRIO	7204	broad.mit.edu	37	5	14387928	14387928	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14387928G>C	uc003jff.2	+	23	3859	c.3853G>C	c.(3853-3855)GAG>CAG	p.E1285Q	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1236Q|TRIO_uc003jfh.1_Missense_Mutation_p.E934Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1285					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACTTAATGAAGAGAAGCGGAA	0.443		NaN											0	0	0	0.016723	0	13	106				
MARCH11	441061	broad.mit.edu	37	5	16177939	16177939	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:16177939G>T	uc003jfo.2	-	2	802	c.589C>A	c.(589-591)CAG>AAG	p.Q197K	uc003jfp.2_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	197	RING-CH-type.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						AGGCACAGCTGATGTGTATAC	0.423		NaN											1	0	2.32078e-09	0.003163	3.11444e-09	14	128				
CDH12	1010	broad.mit.edu	37	5	21802336	21802336	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:21802336A>T	uc010iuc.2	-	7	1654	c.1196T>A	c.(1195-1197)GTA>GAA	p.V399E	CDH12_uc011cno.1_Missense_Mutation_p.V359E|CDH12_uc003jgk.2_Missense_Mutation_p.V399E	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	399	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GATGGTCCCTACCGGAGTGTC	0.478		NaN								HNSCC(59;0.17)			0	0	0	0.008871	0	19	17				
PRDM9	56979	broad.mit.edu	37	5	23526574	23526574	+	Silent	SNP	G	G	A	rs112001060		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:23526574G>A	uc003jgo.2	+	11	1559	c.1377G>A	c.(1375-1377)AGG>AGA	p.R459R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	459					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TCAAAGAAAGGTCCAAACTCT	0.468		NaN								HNSCC(3;0.000094)			0	0	0	0.005443	0	29	17				
MTMR12	54545	broad.mit.edu	37	5	32239280	32239280	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:32239280C>G	uc003jhq.2	-	13	1342	c.1172_splice	c.e13-1	p.E391_splice	MTMR12_uc010iuk.2_Splice_Site_p.E391_splice|MTMR12_uc010iul.2_Splice_Site_p.E391_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12							cytoplasm	phosphatase activity			ovary(1)	1						GCATTCTCCTCTAGGAGAGGC	0.483		NaN											0	0	0	0.003163	0	14	90				
OSMR	9180	broad.mit.edu	37	5	38917668	38917668	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:38917668G>A	uc003jln.1	+	10	1673	c.1306G>A	c.(1306-1308)GTC>ATC	p.V436I	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	436	Fibronectin type-III 2.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					GGCCCCTGATGTCTGGAGAAT	0.408		NaN											0	0	0	0.012319	0	22	174				
PTGER4	5734	broad.mit.edu	37	5	40692210	40692210	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40692210C>G	uc003jlz.2	+	3	1789	c.1197C>G	c.(1195-1197)CTC>CTG	p.L399L		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	399	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TGCCAGACCTCTCACTGCCAG	0.572		NaN											0	0	0	0.016723	0	12	124				
CARD6	84674	broad.mit.edu	37	5	40843437	40843437	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40843437G>C	uc003jmg.2	+	2	542	c.467G>C	c.(466-468)AGG>ACG	p.R156T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	156					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						ACTAGTTATAGGGAAACAGCT	0.418		NaN											0	0	0	0.009096	0	4	73				
HEXB	3074	broad.mit.edu	37	5	74014165	74014165	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74014165G>C	uc003kdf.3	+	10	1336	c.1219G>C	c.(1219-1221)GAG>CAG	p.E407Q	HEXB_uc003kdd.2_Missense_Mutation_p.E182Q|HEXB_uc010izh.2_RNA|HEXB_uc003kdg.1_RNA|HEXB_uc010izi.1_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	407					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGTCTGGCAGGAGGTTTTTGA	0.328		NaN											0	0	0	0.020292	0	11	44				
GFM2	84340	broad.mit.edu	37	5	74054712	74054712	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74054712C>T	uc003kdh.1	-	5	570	c.266G>A	c.(265-267)AGA>AAA	p.R89K	GFM2_uc003kdi.1_Missense_Mutation_p.R89K|GFM2_uc010izj.1_Missense_Mutation_p.R121K|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R89K|GFM2_uc010izl.1_Missense_Mutation_p.R89K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	89					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTACAATATTCTTTCTGTGGT	0.358		NaN											0	0	0	0.009096	0	3	32				
POC5	134359	broad.mit.edu	37	5	74990490	74990490	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74990490C>T	uc003keh.3	-	6	877	c.680G>A	c.(679-681)AGA>AAA	p.R227K	POC5_uc010izu.2_Missense_Mutation_p.R110K|POC5_uc003keg.3_Missense_Mutation_p.R202K	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	227					cell cycle	centriole				lung(1)	1						CTCATCTTTTCTCCCAATGGA	0.294		NaN											0	0	0	0.014758	0	5	25				
GPR98	84059	broad.mit.edu	37	5	90281315	90281315	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:90281315T>A	uc003kju.2	+	85	18224	c.18128T>A	c.(18127-18129)ATC>AAC	p.I6043N	GPR98_uc003kjt.2_Missense_Mutation_p.I3749N|GPR98_uc003kjw.2_Missense_Mutation_p.I1704N|GPR98_uc003kjx.2_Missense_Mutation_p.I71N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6043	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCACAGATCTATGGACTC	0.423		NaN											0	0	0	0.004007	0	14	16				
TRIM36	55521	broad.mit.edu	37	5	114473227	114473227	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:114473227C>G	uc003kqs.2	-	6	1463	c.954G>C	c.(952-954)TTG>TTC	p.L318F	TRIM36_uc011cwc.1_Missense_Mutation_p.L306F|TRIM36_uc003kqt.2_Missense_Mutation_p.L163F	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	318	Potential.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CAATTGCTTTCAAAACAGATG	0.368		NaN											0	0	0	0.00623	0	40	76				
LRRTM2	26045	broad.mit.edu	37	5	138209627	138209627	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:138209627C>T	uc011cyz.1	-	2	1080	c.623G>A	c.(622-624)AGA>AAA	p.R208K	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.R74K|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	208	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGAAGCTCTCTCAGTTTAAT	0.448		NaN											0	0	0	0.01441	0	159	17				
DND1	373863	broad.mit.edu	37	5	140052881	140052881	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140052881C>T	uc003lgt.2	-	2	161	c.117G>A	c.(115-117)CAG>CAA	p.Q39Q		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	39					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACTTCCTCTGCCCGTTCA	0.667		NaN											0	0	0	0.007291	0	25	71				
PCDHA2	56146	broad.mit.edu	37	5	140176232	140176232	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140176232C>T	uc003lhd.2	+	1	1789	c.1683C>T	c.(1681-1683)AAC>AAT	p.N561N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N561N|PCDHA2_uc011czy.1_Silent_p.N561N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	561	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCAC	0.692		NaN											0	0	0	0.00632	0	25	71				
PCDHA4	56144	broad.mit.edu	37	5	140187223	140187223	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140187223C>G	uc003lhi.2	+	1	552	c.451C>G	c.(451-453)CGG>GGG	p.R151G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R151G|PCDHA4_uc011daa.1_Missense_Mutation_p.R151G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	151	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGGTTTCCACT	0.542		NaN											0	0	0	0.014758	0	5	87				
PCDHA9	9752	broad.mit.edu	37	5	140229336	140229336	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140229336C>T	uc003lhu.2	+	1	1980	c.1256C>T	c.(1255-1257)TCC>TTC	p.S419F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S419F	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	419	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGTGTCCGCCTACGAG	0.637		NaN											0	0	0	0.012213	0	33	101				
PCDHAC2	56134	broad.mit.edu	37	5	140348186	140348186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140348186C>A	uc003lii.2	+	1	2075	c.1835C>A	c.(1834-1836)TCA>TAA	p.S612*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S612*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	612	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTATGGACTCAGACTCTGGG	0.507		NaN											1	0	2.35188e-11	0.006122	3.20289e-11	17	31				
PCDHGA10	56106	broad.mit.edu	37	5	140793480	140793480	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140793480C>T	uc003lkl.1	+	1	738	c.738C>T	c.(736-738)TTC>TTT	p.F246F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.F246F	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	246	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGGTCTTCACCTTGCCAG	0.582		NaN											0	0	0	0.008291	0	9	34				
JAKMIP2	9832	broad.mit.edu	37	5	147015815	147015815	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:147015815G>A	uc003loq.1	-	12	2029	c.1647C>T	c.(1645-1647)TTC>TTT	p.F549F	JAKMIP2_uc011dbx.1_Silent_p.F507F|JAKMIP2_uc003lor.1_Intron|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.F549F	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	549	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTTAATGAAAAGTTGTT	0.468		NaN											0	0	0	0.001984	0	6	14				
FAM71B	153745	broad.mit.edu	37	5	156589870	156589870	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:156589870G>T	uc003lwn.2	-	2	1506	c.1406C>A	c.(1405-1407)TCC>TAC	p.S469Y		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	469						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGATGCGGACCGGTGGGA	0.532		NaN											1	0	2.27054e-47	0.01441	3.22472e-47	130	22				
ODZ2	57451	broad.mit.edu	37	5	167625892	167625892	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:167625892A>T	uc010jjd.2	+	16	2908	c.2908A>T	c.(2908-2910)ACT>TCT	p.T970S	ODZ2_uc003lzr.3_Missense_Mutation_p.T747S|ODZ2_uc003lzt.3_Missense_Mutation_p.T343S|ODZ2_uc010jje.2_Missense_Mutation_p.T241S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGCTTCCTTGACTCTACACTT	0.547		NaN											0	0	0	0.01441	0	45	26				
CDHR2	54825	broad.mit.edu	37	5	176008383	176008383	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176008383C>G	uc003mem.1	+	17	1924	c.1858C>G	c.(1858-1860)CTG>GTG	p.L620V	CDHR2_uc003men.1_Missense_Mutation_p.L620V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	620	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAACAGCCGTCTGCTCTTCAA	0.632		NaN											0	0	0	0.019004	0	34	9				
UNC5A	90249	broad.mit.edu	37	5	176304243	176304243	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304243G>A	uc003mey.2	+	9	1621	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	477	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGATCTATGAGATCTACCT	0.642		NaN											0	0	0	0.021523	0	23	45				
UNC5A	90249	broad.mit.edu	37	5	176304245	176304245	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304245G>A	uc003mey.2	+	9	1623	c.1431G>A	c.(1429-1431)GAG>GAA	p.E477E		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	477	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATCTATGAGATCTACCTCA	0.642		NaN											0	0	0	0.021523	0	24	42				
FAM193B	54540	broad.mit.edu	37	5	176952002	176952002	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176952002C>G	uc003mhs.3	-	8	2970	c.1381G>C	c.(1381-1383)GAG>CAG	p.E461Q	FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhu.2_Missense_Mutation_p.E173Q|FAM193B_uc003mhv.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	494											0						ATGCTGAGCTCACACACACTG	0.572		NaN											0	0	0	0.009096	0	4	91				
FAM153C	653316	broad.mit.edu	37	5	177468711	177468711	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:177468711G>A	uc011dge.1	+	7	352	c.151G>A	c.(151-153)GAG>AAG	p.E51K	FAM153C_uc003mig.1_Missense_Mutation_p.E51K	NM_001079527	NP_001072995			hypothetical protein LOC653316												0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGACCTGGAGGAGCATCT	0.522		NaN											0	0	0	0.01441	0	61	168				
EXOC2	55770	broad.mit.edu	37	6	592509	592509	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:592509G>C	uc003mtd.2	-	11	1286	c.1152C>G	c.(1150-1152)CTC>CTG	p.L384L	EXOC2_uc003mte.2_Silent_p.L384L|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	384					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AACTGTGCATGAGCTGAAGGA	0.468		NaN											0	0	0	0.007413	0	19	46				
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26188994C>T	uc003ngu.2	-	1	311	c.311G>A	c.(310-312)TGA>TAA	p.*104*		NM_003539	NP_003530	P62805	H4_HUMAN	histone cluster 1, H4d	104					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537		NaN											0	0	0	0.01892	0	22	69				
BTN3A1	11119	broad.mit.edu	37	6	26413833	26413833	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413833C>T	uc003nhv.2	+	10	1823	c.1455C>T	c.(1453-1455)TTC>TTT	p.F485F	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.F433F|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	485	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TTCATACTTTCCTGGACGTCT	0.463		NaN											0	0	0	0.00632	0	29	127				
BTN3A1	11119	broad.mit.edu	37	6	26413848	26413848	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413848C>G	uc003nhv.2	+	10	1838	c.1470C>G	c.(1468-1470)TTC>TTG	p.F490L	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.F438L|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	490	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACGTCTCCTTCTCTGAGGCTC	0.458		NaN											0	0	0	0.009535	0	32	113				
BAT2	7916	broad.mit.edu	37	6	31600510	31600510	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600510C>G	uc003nvb.3	+	16	4309	c.4060C>G	c.(4060-4062)CCT>GCT	p.P1354A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P1354A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1354	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TGTGGGAACTCCTGGGGGAGG	0.582		NaN											0	0	0	0.016522	0	24	89				
BAT2	7916	broad.mit.edu	37	6	31600529	31600529	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600529G>C	uc003nvb.3	+	16	4328	c.4079G>C	c.(4078-4080)GGA>GCA	p.G1360A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1360A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1360	4 X 57 AA type A repeats.|Poly-Gly.					cytoplasm|nucleus	protein binding				0						GGTGGAGGTGGAGCCGTACCA	0.592		NaN											0	0	0	0.01441	0	85	49				
RXRB	6257	broad.mit.edu	37	6	33165552	33165552	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:33165552G>A	uc003odb.2	-	4	986	c.807C>T	c.(805-807)GGC>GGT	p.G269G	RXRB_uc003odc.2_Silent_p.G269G|RXRB_uc003odd.2_Silent_p.G173G|RXRB_uc011dqr.1_Silent_p.G79G|RXRB_uc011dqs.1_Silent_p.G152G|RXRB_uc003ode.1_Silent_p.G133G|RXRB_uc011dqt.1_Silent_p.G269G|RXRB_uc011dqu.1_Silent_p.G173G	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	269	Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCTCTTCATGCCAGTGGCCA	0.577		NaN											0	0	0	0.00308	0	7	64				
DEF6	50619	broad.mit.edu	37	6	35265694	35265694	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35265694G>C	uc003okk.2	+	1	100	c.61G>C	c.(61-63)GAG>CAG	p.E21Q	DEF6_uc010jvs.2_Missense_Mutation_p.E21Q|DEF6_uc010jvt.2_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	21						cytoplasm|nucleus|plasma membrane					0						GCTGGACGTGGAGAAGAGTGG	0.672		NaN											0	0	0	0.004482	0	8	37				
TULP1	7287	broad.mit.edu	37	6	35471540	35471540	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35471540G>A	uc003okv.3	-	12	1210	c.1198C>T	c.(1198-1200)CGG>TGG	p.R400W	TULP1_uc003okw.3_Missense_Mutation_p.R347W	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	400			R -> W (in LCA15).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						AGCTCCTGCCGAAGGCTTGCC	0.597		NaN											0	0	0	0.014323	0	21	7				
PNPLA1	285848	broad.mit.edu	37	6	36259282	36259282	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:36259282G>A	uc010jwf.2	+	2	391	c.391G>A	c.(391-393)GAG>AAG	p.E131K	PNPLA1_uc003olw.1_Missense_Mutation_p.E36K|PNPLA1_uc010jwe.1_Missense_Mutation_p.E36K	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	131	Patatin.				lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						AACGGACGGGGAGAATGTGGT	0.637		NaN											0	0	0	0.014758	0	5	34				
C6orf129	154467	broad.mit.edu	37	6	37451064	37451064	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:37451064C>T	uc003ont.2	-	4	253	c.192G>A	c.(190-192)GAG>GAA	p.E64E		NM_138493	NP_612502	Q9P0B6	CF129_HUMAN	hypothetical protein LOC154467	64	Potential.					integral to membrane					0						TCAGTTCCTTCTCTGGGAGGA	0.532		NaN											0	0	0	0.001168	0	6	74				
UNC5CL	222643	broad.mit.edu	37	6	41002620	41002620	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:41002620G>C	uc003opi.2	-	2	283	c.194C>G	c.(193-195)TCA>TGA	p.S65*	UNC5CL_uc010jxe.1_Nonsense_Mutation_p.S65*	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	65	Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCTGCCTTGAGACCTCATT	0.587		NaN											0	0	0	0.01892	0	24	131				
CNPY3	10695	broad.mit.edu	37	6	42902239	42902239	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:42902239A>C	uc003ota.3	+	2	627	c.178A>C	c.(178-180)AAG>CAG	p.K60Q	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.K60Q|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_Intron	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	60	Saposin B-type.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGTGGAGCTGAAGTCAGCCTT	0.537		NaN											0	0	0	0.006122	0	19	53				
CUL7	9820	broad.mit.edu	37	6	43006375	43006375	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:43006375T>C	uc003otq.2	-	24	4799	c.4496A>G	c.(4495-4497)AAT>AGT	p.N1499S	CUL7_uc010jyg.2_Missense_Mutation_p.N778S|CUL7_uc011dvb.1_Missense_Mutation_p.N1583S|CUL7_uc010jyh.2_Missense_Mutation_p.N492S|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1499					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATCGCCTGATTGAGCATGTC	0.587		NaN											0	0	0	0.004656	0	26	89				
COL21A1	81578	broad.mit.edu	37	6	56044893	56044893	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:56044893G>C	uc003pcs.2	-	3	355	c.123C>G	c.(121-123)ATC>ATG	p.I41M	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.I41M|COL21A1_uc003pcu.1_Missense_Mutation_p.I41M	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	41	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCATCTAAGATGAAAACTA	0.348		NaN											0	0	0	0.001984	0	6	9				
RIMS1	22999	broad.mit.edu	37	6	72678707	72678707	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:72678707G>A	uc003pga.2	+	2	263	c.186G>A	c.(184-186)GCG>GCA	p.A62A		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453		NaN											0	0	0	0.01441	0	46	43				
GJB7	375519	broad.mit.edu	37	6	87994088	87994088	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:87994088G>A	uc003plo.2	-	3	889	c.543C>T	c.(541-543)CTC>CTT	p.L181L		NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	181	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TGACCAAGAAGAGGATGAAGA	0.398		NaN											0	0	0	0.010729	0	12	30				
EPHA7	2045	broad.mit.edu	37	6	93965737	93965737	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:93965737T>C	uc003poe.2	-	13	2432	c.2191A>G	c.(2191-2193)ACA>GCA	p.T731A	EPHA7_uc003pof.2_Missense_Mutation_p.T726A|EPHA7_uc011eac.1_Missense_Mutation_p.T727A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	731	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAATGACTGTAAATTGCCCA	0.398		NaN											0	0	0	0.009096	0	3	21				
FAM54A	113115	broad.mit.edu	37	6	136564027	136564027	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:136564027C>G	uc010kgp.1	-	4	643	c.253G>C	c.(253-255)GAT>CAT	p.D85H	FAM54A_uc003qgt.1_Missense_Mutation_p.D85H|FAM54A_uc003qgu.1_Missense_Mutation_p.D42H	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN	DUF729 domain containing 1	85										skin(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		GCTTCTTCATCATTTGCCACA	0.358		NaN											0	0	0	0.004672	0	3	78				
STXBP5	134957	broad.mit.edu	37	6	147648324	147648324	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:147648324C>G	uc003qlz.2	+	18	2153	c.1992C>G	c.(1990-1992)CTC>CTG	p.L664L	STXBP5_uc010khz.1_Silent_p.L664L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.L335L|STXBP5_uc003qma.2_Silent_p.L11L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	664	WD 10.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAGTGCTGCTCAACCTGGGCA	0.428		NaN											0	0	0	0.021523	0	24	48				
EZR	7430	broad.mit.edu	37	6	159206483	159206483	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:159206483C>G	uc003qrt.3	-	4	540	c.325G>C	c.(325-327)GGA>CGA	p.G109R	EZR_uc011efs.1_Missense_Mutation_p.G77R|EZR_uc003qru.3_Missense_Mutation_p.G109R	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	109	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTAAGGATTCCTTCCTTCACT	0.532		NaN											0	0	0	0.001984	0	6	51				
PNLDC1	154197	broad.mit.edu	37	6	160237614	160237614	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160237614T>G	uc003qsx.1	+	14	1238	c.1067T>G	c.(1066-1068)TTC>TGC	p.F356C	PNLDC1_uc003qsy.1_Missense_Mutation_p.F367C	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	356	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATGATGCCTTCCTCTGTGGG	0.378		NaN											0	0	0	0.008361	0	25	76				
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160999635C>T	uc003qtl.2	-	28	4511	c.4391G>A	c.(4390-4392)CGA>CAA	p.R1464Q		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3972	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527		NaN											0	0	0	0.010504	0	21	43				
SDK1	221935	broad.mit.edu	37	7	4107520	4107520	+	Missense_Mutation	SNP	C	C	G	rs142269128		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:4107520C>G	uc003smx.2	+	20	3101	c.2962C>G	c.(2962-2964)CTC>GTC	p.L988V	SDK1_uc010kso.2_Missense_Mutation_p.L264V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	988	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGACACATCTCTCAAGGTCAG	0.423		NaN											0	0	0	0.014758	0	5	35				
CYTH3	9265	broad.mit.edu	37	7	6227347	6227347	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227347C>T	uc003spt.2	-	3	227	c.123G>A	c.(121-123)CTG>CTA	p.L41L		NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	41	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						TTTCATATTTCAGCCTCTGTC	0.418		NaN											0	0	0	0.012319	0	21	87				
CYTH3	9265	broad.mit.edu	37	7	6227353	6227353	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227353C>T	uc003spt.2	-	3	222	c.118_splice	c.e3-1	p.R40_splice		NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						ATTTCAGCCTCTGTCAAAAAA	0.433		NaN											0	0	0	0.008871	0	20	79				
FAM126A	84668	broad.mit.edu	37	7	23030703	23030703	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:23030703C>T	uc003svm.3	-	2	283	c.28G>A	c.(28-30)GAG>AAG	p.E10K	FAM126A_uc003svn.3_Intron|FAM126A_uc011jyr.1_Missense_Mutation_p.E10K	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	10						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						AACCATTCCTCCACAACCCCT	0.303		NaN											0	0	0	0.010729	0	9	32				
CREB5	9586	broad.mit.edu	37	7	28858828	28858828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:28858828G>T	uc003szq.2	+	11	1849	c.1459G>T	c.(1459-1461)GAG>TAG	p.E487*	CREB5_uc003szo.2_Nonsense_Mutation_p.E454*|CREB5_uc003szr.2_Nonsense_Mutation_p.E480*|CREB5_uc003szs.2_Nonsense_Mutation_p.E348*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	487					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						ATCGGTCAGCGAGGTGGTAGG	0.532		NaN											1	0	1.75199e-13	0.007291	2.39776e-13	28	107				
GLI3	2737	broad.mit.edu	37	7	42005202	42005202	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:42005202C>T	uc011kbh.1	-	15	3560	c.3469G>A	c.(3469-3471)GAC>AAC	p.D1157N	GLI3_uc011kbg.1_Missense_Mutation_p.D1098N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1157					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ATGGGCAGGTCGGTTTTGCTG	0.692		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				0	0	0	0.01441	0	55	245				
ZNF117	51351	broad.mit.edu	37	7	64439571	64439571	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:64439571T>A	uc003ttr.2	-	4	1663	c.378A>T	c.(376-378)CAA>CAT	p.Q126H		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	126	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTCTTTTATGTTGAGTTAGGT	0.308		NaN											0	0	0	0.001168	0	6	15				
C7orf42	55069	broad.mit.edu	37	7	66409968	66409968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:66409968G>A	uc003tvk.2	+	3	429	c.165G>A	c.(163-165)TGG>TGA	p.W55*	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Nonsense_Mutation_p.W55*	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	55						integral to membrane				ovary(1)	1						CAAAGGATTGGAATACTTTTC	0.473		NaN											0	0	0	0.008291	0	9	71				
WBSCR17	64409	broad.mit.edu	37	7	70886021	70886021	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:70886021G>A	uc003tvy.2	+	5	892	c.892G>A	c.(892-894)GAG>AAG	p.E298K	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	298	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACAGCTGGGAGCTGTGGTG	0.597		NaN											0	0	0	0.01441	0	52	83				
POM121	9883	broad.mit.edu	37	7	72413873	72413873	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:72413873A>G	uc003twk.2	+	11	3341	c.3341A>G	c.(3340-3342)AAT>AGT	p.N1114S	POM121_uc003twj.2_Missense_Mutation_p.N849S|POM121_uc010lam.1_Missense_Mutation_p.N849S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1114	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				TTTGGGATCAATGTGGCCACC	0.637		NaN											0	0	0	0.01441	0	54	17				
PHTF2	57157	broad.mit.edu	37	7	77549772	77549772	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:77549772G>C	uc003ugs.3	+	9	1079	c.953G>C	c.(952-954)GGT>GCT	p.G318A	PHTF2_uc003ugo.3_Missense_Mutation_p.G280A|PHTF2_uc003ugp.2_Missense_Mutation_p.G280A|PHTF2_uc003ugq.3_Missense_Mutation_p.G280A|PHTF2_uc010ldv.2_Missense_Mutation_p.G280A|PHTF2_uc003ugr.3_Missense_Mutation_p.G284A|PHTF2_uc003ugt.3_Missense_Mutation_p.G284A|PHTF2_uc003ugu.3_Missense_Mutation_p.G280A|PHTF2_uc003ugv.2_Missense_Mutation_p.G143A|PHTF2_uc010ldw.1_Missense_Mutation_p.G143A	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						CTGAGGAATGGTCCTAGCAAA	0.383		NaN											0	0	0	0.021022	0	35	23				
CYP51A1	1595	broad.mit.edu	37	7	91763582	91763582	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:91763582A>C	uc003ulm.3	-	1	259	c.97T>G	c.(97-99)TTG>GTG	p.L33V	CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron|uc003ulo.1_5'Flank	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	27	Helical; (Potential).				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AGCATGGACAAGAGGTTGCCG	0.687		NaN									OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	39				
CYP3A7	1551	broad.mit.edu	37	7	99319922	99319922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99319922C>T	uc003uru.2	-	3	320	c.215G>A	c.(214-216)TGG>TAG	p.W72*	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	72					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACTCACCCCCAGACTTTTCT	0.388		NaN											0	0	0	0.001168	0	5	39				
GATS	352954	broad.mit.edu	37	7	99821277	99821277	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99821277T>A	uc003uua.3	-	4	705	c.456A>T	c.(454-456)TCA>TCT	p.S152S	GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	152											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTGAACTCTGATGACAACG	0.612		NaN											0	0	0	0.01441	0	49	217				
SRRT	51593	broad.mit.edu	37	7	100479836	100479836	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100479836C>T	uc003uwy.2	+	6	829	c.561C>T	c.(559-561)TTC>TTT	p.F187F	SRRT_uc010lhl.1_Silent_p.F187F|SRRT_uc003uxa.2_Silent_p.F187F|SRRT_uc003uwz.2_Silent_p.F187F	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	187					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TGCAGGATTTCTTCCTGGCGC	0.587		NaN											0	0	0	0.008291	0	10	62				
MUC17	140453	broad.mit.edu	37	7	100680758	100680758	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100680758G>A	uc003uxp.1	+	3	6114	c.6061G>A	c.(6061-6063)GAA>AAA	p.E2021K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2021	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGGCAGTTC	0.517		NaN											0	0	0	0.01441	0	67	290				
TRIM56	81844	broad.mit.edu	37	7	100730635	100730635	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100730635G>A	uc003uxq.2	+	3	273	c.42G>A	c.(40-42)CTG>CTA	p.L14L	TRIM56_uc003uxr.2_Silent_p.L14L	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	14					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGAGGCCCTGAGCAGCGACT	0.622		NaN											0	0	0	0.008291	0	10	317				
TES	26136	broad.mit.edu	37	7	115889220	115889220	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:115889220A>G	uc003vho.2	+	3	441	c.260A>G	c.(259-261)TAT>TGT	p.Y87C	TES_uc011kmx.1_Missense_Mutation_p.Y87C|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.Y78C|TES_uc003vhp.2_Missense_Mutation_p.Y78C	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	87					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATTCCCATGTATAAACGCAAT	0.403		NaN											0	0	0	0.005443	0	25	37				
PTPRZ1	5803	broad.mit.edu	37	7	121651654	121651654	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:121651654G>A	uc003vjy.2	+	12	2949	c.2554G>A	c.(2554-2556)GAT>AAT	p.D852N	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	852	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TACCGAGAGTGATAAGGTGCC	0.473		NaN											0	0	0	0.008291	0	10	81				
FAM71F1	84691	broad.mit.edu	37	7	128355536	128355536	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128355536C>G	uc003vno.1	+	1	94	c.41C>G	c.(40-42)TCA>TGA	p.S14*	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Nonsense_Mutation_p.S14*	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	14										skin(1)	1						TGGAGGAAATCAAAGAAGACA	0.493		NaN											0	0	0	0.01441	0	53	58				
FAM71F1	84691	broad.mit.edu	37	7	128359081	128359081	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128359081C>G	uc003vno.1	+	3	684	c.631C>G	c.(631-633)CTT>GTT	p.L211V	FAM71F1_uc010llo.1_Missense_Mutation_p.L112V|FAM71F1_uc011koq.1_Missense_Mutation_p.L103V|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.L112V|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.L211V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	211										skin(1)	1						CCCTAGGATTCTTGTCACGCA	0.542		NaN											0	0	0	0.01441	0	80	63				
EZH2	2146	broad.mit.edu	37	7	148526869	148526870	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:148526869_148526870GA>AT	uc003wfd.1	-	5	600_601	c.434_435TC>AT	c.(433-435)TTC>TAT	p.F145Y	EZH2_uc011kug.1_Missense_Mutation_p.F136Y|EZH2_uc003wfb.1_Missense_Mutation_p.F145Y|EZH2_uc003wfc.1_Missense_Mutation_p.F106Y|EZH2_uc011kuh.1_Missense_Mutation_p.F136Y|EZH2_uc011kui.1_Missense_Mutation_p.F145Y|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	145	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.F145C(1)		haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTCTTCAATGAAAGTACCATC	0.337		NaN	Mis		DLBCL								0	0	0	0.004672	0	12	59				
ERICH1	157697	broad.mit.edu	37	8	618727	618727	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:618727C>T	uc003wph.2	-	5	1194	c.1129G>A	c.(1129-1131)GCG>ACG	p.A377T	ERICH1_uc011kwh.1_Missense_Mutation_p.A377T|ERICH1_uc003wpe.1_Missense_Mutation_p.A283T|ERICH1_uc003wpi.2_Missense_Mutation_p.A189T	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	377										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGTGTGACGCAAGGCGGTCC	0.517		NaN											0	0	0	0.006122	0	18	26				
SGK223	157285	broad.mit.edu	37	8	8234441	8234441	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:8234441G>C	uc003wsh.3	-	2	1478	c.1478C>G	c.(1477-1479)TCT>TGT	p.S493C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	493							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCCCACTGCAGAGTCAGGGCT	0.642		NaN											0	0	0	0.008291	0	9	22				
ADAM7	8756	broad.mit.edu	37	8	24324310	24324310	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:24324310A>C	uc003xeb.2	+	6	503	c.390_splice	c.e6-2	p.R130_splice	ADAM7_uc003xea.1_Splice_Site_p.R130_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAATTTCTACAGGGGATTCTT	0.383		NaN											0	0	0	0.004482	0	8	15				
PRKDC	5591	broad.mit.edu	37	8	48803019	48803019	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:48803019A>C	uc003xqi.2	-	33	3927	c.3870T>G	c.(3868-3870)CTT>CTG	p.L1290L	PRKDC_uc003xqj.2_Silent_p.L1290L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1290					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCTTTCAAAAGTGAAGACT	0.383		NaN						NHEJ					0	0	0	0.014758	0	5	11				
CHD7	55636	broad.mit.edu	37	8	61655385	61655385	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61655385C>A	uc003xue.2	+	2	1871	c.1394C>A	c.(1393-1395)TCC>TAC	p.S465Y		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	465	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATAGGCATGTCCTCGGCACCA	0.557		NaN											1	0	0.000274275	0.004482	0.000349923	9	39		Valid		
CHD7	55636	broad.mit.edu	37	8	61735064	61735064	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61735064G>A	uc003xue.2	+	12	3437	c.2960G>A	c.(2959-2961)CGA>CAA	p.R987Q	CHD7_uc003xuf.2_Missense_Mutation_p.R100Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	987	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTAAAGGCGAAACTGCATT	0.343		NaN											0	0	0	0.001984	0	7	49		Valid		
CSPP1	79848	broad.mit.edu	37	8	68076741	68076741	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:68076741C>G	uc003xxi.2	+	24	2947	c.2916C>G	c.(2914-2916)ATC>ATG	p.I972M	CSPP1_uc003xxj.2_Missense_Mutation_p.I937M|CSPP1_uc003xxk.2_Missense_Mutation_p.I592M|CSPP1_uc010lyw.2_Missense_Mutation_p.I32M	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	972						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATTCCTATCAGGCAAGTTT	0.368		NaN											0	0	0	0.013726	0	30	204				
SULF1	23213	broad.mit.edu	37	8	70536209	70536209	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70536209A>G	uc010lza.1	+	15	2344	c.1627A>G	c.(1627-1629)ACA>GCA	p.T543A	SULF1_uc003xyd.2_Missense_Mutation_p.T543A|SULF1_uc003xye.2_Missense_Mutation_p.T543A|SULF1_uc003xyf.2_Missense_Mutation_p.T543A|SULF1_uc003xyg.2_Missense_Mutation_p.T543A|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	543					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACTCGGCAGACACGTTCCTT	0.408		NaN											0	0	0	0.010818	0	29	138				
SLCO5A1	81796	broad.mit.edu	37	8	70585512	70585512	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70585512G>A	uc003xyl.2	-	10	2846	c.2139C>T	c.(2137-2139)TGC>TGT	p.C713C	SLCO5A1_uc010lzb.2_Silent_p.C658C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	713	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAGCATGCAGGTGGTGT	0.478		NaN											0	0	0	0.00874	0	42	214				
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:77767112G>T	uc003yav.2	+	10	8207	c.7820G>T	c.(7819-7821)TGG>TTG	p.W2607L	ZFHX4_uc003yau.1_Missense_Mutation_p.W2652L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W2607L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2607	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGCAAGTCTGGTTCCAGAAT	0.498		NaN								HNSCC(33;0.089)			1	0	3.83957e-06	0.016522	5.04629e-06	24	124				
DCAF4L2	138009	broad.mit.edu	37	8	88885180	88885180	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:88885180G>A	uc003ydz.2	-	1	1117	c.1020C>T	c.(1018-1020)ATC>ATT	p.I340I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	340	WD 2.									ovary(1)	1						GGAGGCTCCAGATTCTCGTGT	0.592		NaN											0	0	0	0.00499	0	14	129				
SLC26A7	115111	broad.mit.edu	37	8	92301462	92301462	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:92301462C>A	uc003yex.2	+	4	570	c.292C>A	c.(292-294)CAT>AAT	p.H98N	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.H98N|SLC26A7_uc003yfa.2_Missense_Mutation_p.H98N	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	98	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AATGGGACATCATGTTGCCAC	0.378		NaN											1	0	0.000175454	0.010504	0.000224886	21	199				
KIAA1429	25962	broad.mit.edu	37	8	95508024	95508024	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:95508024G>A	uc003ygo.1	-	19	4492	c.4479C>T	c.(4477-4479)CTC>CTT	p.L1493L	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1493					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCTGGTCACTGAGAGGTAAAG	0.388		NaN											0	0	0	0.016723	0	12	97				
UBR5	51366	broad.mit.edu	37	8	103354706	103354706	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:103354706C>G	uc003ykr.1	-	9	1126	c.1093G>C	c.(1093-1095)GAT>CAT	p.D365H	UBR5_uc003yks.1_Missense_Mutation_p.D365H	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	365					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACCTTATCAGGCCACCAC	0.408		NaN											0	0	0	0.01892	0	24	144				
PKHD1L1	93035	broad.mit.edu	37	8	110460594	110460594	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:110460594A>C	uc003yne.2	+	39	6103	c.5999A>C	c.(5998-6000)AAT>ACT	p.N2000T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2000	Extracellular (Potential).|IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCCGCTTAATATTCAAAAT	0.373		NaN								HNSCC(38;0.096)			0	0	0	0.014758	0	5	46				
COL14A1	7373	broad.mit.edu	37	8	121211724	121211724	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:121211724A>T	uc003yox.2	+	8	1061	c.796A>T	c.(796-798)ATC>TTC	p.I266F	COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	266	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGCATTTTAATCACAGATGG	0.383		NaN											0	0	0	0.00308	0	8	46				
C8orf76	84933	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124253563G>A	uc003yqc.1	-	1	55	c.24C>T	c.(22-24)TTC>TTT	p.F8F	C8orf76_uc003yqd.2_Intron	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	8							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716		NaN											0	0	0	0.010729	0	10	49				
ATAD2	29028	broad.mit.edu	37	8	124392872	124392872	+	Missense_Mutation	SNP	C	C	G	rs148295369		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124392872C>G	uc003yqh.3	-	2	325	c.217G>C	c.(217-219)GCT>CCT	p.A73P	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A73P	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTAAAGCACGTGTCCGG	0.358		NaN											0	0	0	0.001984	0	7	153				
KLHL38	340359	broad.mit.edu	37	8	124664510	124664510	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124664510G>C	uc003yqs.1	-	1	681	c.657C>G	c.(655-657)TTC>TTG	p.F219L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	219	BACK.										0						TGACCTGCTTGAACAGTTCCT	0.557		NaN											0	0	0	0.012319	0	23	155				
FAM49B	51571	broad.mit.edu	37	8	130883726	130883726	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:130883726C>G	uc003yss.2	-	7	639	c.90G>C	c.(88-90)GAG>GAC	p.E30D	FAM49B_uc003yst.2_Missense_Mutation_p.E30D|FAM49B_uc003ysu.2_Missense_Mutation_p.E30D|FAM49B_uc003ysv.2_5'UTR|FAM49B_uc003ysw.2_Missense_Mutation_p.E30D|FAM49B_uc003ysx.2_Missense_Mutation_p.E30D|FAM49B_uc003ysy.1_Missense_Mutation_p.E30D	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	30											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CCTTCTCAGACTCTGTAGGCT	0.383		NaN											0	0	0	0.008291	0	9	59				
LRRC6	23639	broad.mit.edu	37	8	133645151	133645151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:133645151G>T	uc003ytk.2	-	5	562	c.488C>A	c.(487-489)TCA>TAA	p.S163*	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	163						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTCAATTACTGAATAGTCCTG	0.363		NaN											1	0	5.43694e-19	0.005524	7.59154e-19	39	89				
TG	7038	broad.mit.edu	37	8	134146952	134146952	+	Missense_Mutation	SNP	G	G	A	rs35054972		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134146952G>A	uc003ytw.2	+	48	8262	c.8221G>A	c.(8221-8223)GAA>AAA	p.E2741K	TG_uc010mdw.2_Missense_Mutation_p.E1500K|TG_uc011ljb.1_Missense_Mutation_p.E1110K|TG_uc011ljc.1_Missense_Mutation_p.E874K	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2741					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGAGAGTGAAGAGGAGGA	0.547		NaN											0	0	0	0.005443	0	26	58				
NDRG1	10397	broad.mit.edu	37	8	134251299	134251299	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134251299G>C	uc003yuh.2	-	16	1593	c.1007C>G	c.(1006-1008)TCT>TGT	p.S336C	NDRG1_uc003yue.1_Missense_Mutation_p.S51C|NDRG1_uc003yuf.1_Missense_Mutation_p.S147C|NDRG1_uc003yug.2_Missense_Mutation_p.S336C|NDRG1_uc010mee.2_Missense_Mutation_p.S255C|NDRG1_uc010mef.2_Missense_Mutation_p.S270C|NDRG1_uc011ljh.1_Missense_Mutation_p.S164C|NDRG1_uc011lji.1_Missense_Mutation_p.S83C|NDRG1_uc003yui.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	336					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCATCCAGAGAAGTGACGCT	0.687		NaN											0	0	0	0.014758	0	5	41				
FAM135B	51059	broad.mit.edu	37	8	139255208	139255208	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:139255208A>T	uc003yuy.2	-	7	817	c.646T>A	c.(646-648)TAC>AAC	p.Y216N	FAM135B_uc003yux.2_Missense_Mutation_p.Y117N|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	216										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTTGCAGTACCCAGCTCCA	0.483		NaN								HNSCC(54;0.14)			0	0	0	0.013537	0	11	103				
PTK2	5747	broad.mit.edu	37	8	141712710	141712710	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:141712710G>C	uc003yvu.2	-	25	2556	c.2326C>G	c.(2326-2328)CAT>GAT	p.H776D	PTK2_uc011ljp.1_Missense_Mutation_p.H84D|PTK2_uc003yvo.2_Missense_Mutation_p.H404D|PTK2_uc011ljq.1_Missense_Mutation_p.H471D|PTK2_uc003yvp.2_Missense_Mutation_p.H444D|PTK2_uc003yvq.2_Missense_Mutation_p.H302D|PTK2_uc003yvr.2_Missense_Mutation_p.H716D|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Missense_Mutation_p.H798D|PTK2_uc003yvv.2_Missense_Mutation_p.H676D|PTK2_uc011ljr.1_Missense_Mutation_p.H776D	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	776	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGAGGTCTATGATTCCATGAA	0.453		NaN											0	0	0	0.012319	0	20	139				
ZNF696	79943	broad.mit.edu	37	8	144378379	144378379	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144378379G>A	uc003yxy.3	+	3	943	c.534G>A	c.(532-534)GAG>GAA	p.E178E		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACAGCGGGGAGAGGCCCTACG	0.697		NaN											0	0	0	0.00308	0	7	36				
EEF1D	1936	broad.mit.edu	37	8	144662724	144662724	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144662724C>T	uc011lki.1	-	6	833	c.564G>A	c.(562-564)AAG>AAA	p.K188K	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.K530K|EEF1D_uc003yyq.1_Silent_p.K604K|EEF1D_uc011lkj.1_Silent_p.K553K|EEF1D_uc003yyr.2_Silent_p.K554K|EEF1D_uc003yyt.2_Silent_p.K554K|EEF1D_uc011lkk.1_Silent_p.K188K|EEF1D_uc003yys.2_Silent_p.K188K|EEF1D_uc003yyv.2_Silent_p.K164K|EEF1D_uc003yyu.2_Silent_p.K188K|EEF1D_uc011lkl.1_Silent_p.K169K	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	188					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTGCAGGCTTCTTGGCCTTCT	0.637		NaN											0	0	0	0.006999	0	39	241				
FRMPD1	22844	broad.mit.edu	37	9	37735728	37735728	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:37735728C>T	uc004aag.1	+	13	1442	c.1398C>T	c.(1396-1398)GTC>GTT	p.V466V	FRMPD1_uc004aah.1_Silent_p.V466V|FRMPD1_uc011lqm.1_Silent_p.V288V|FRMPD1_uc011lqn.1_Silent_p.V335V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	466	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TTCAGGACGTCAAGGTAACAC	0.423		NaN											0	0	0	0.00874	0	42	3				
FAM75C1	441452	broad.mit.edu	37	9	90535926	90535926	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:90535926A>C	uc010mqi.2	+	4	1133	c.1104A>C	c.(1102-1104)CCA>CCC	p.P368P	FAM75C1_uc004apq.3_Silent_p.P351P	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						CCTCTTTCCCAGTCCTATCTC	0.537		NaN											0	0	0	0.01441	0	218	409				
CTNNAL1	8727	broad.mit.edu	37	9	111745534	111745534	+	Missense_Mutation	SNP	C	C	T	rs150483984	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:111745534C>T	uc004bdo.1	-	6	833	c.791G>A	c.(790-792)CGT>CAT	p.R264H	CTNNAL1_uc010mts.1_5'UTR|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R264H|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R264H	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	264					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		CACTTTCATACGGTCAAATAC	0.333		NaN											0	0	0	0.016723	0	10	46				
PALM2-AKAP2	445815	broad.mit.edu	37	9	112642957	112642957	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:112642957C>A	uc004bei.2	+	3	445	c.253C>A	c.(253-255)CAG>AAG	p.Q85K	PALM2_uc004bef.2_Missense_Mutation_p.Q87K|PALM2_uc004beg.2_Missense_Mutation_p.Q87K|PALM2_uc004beh.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGATAACATTCAGAGGTAGGT	0.527		NaN											1	0	4.72057e-08	0.021523	6.28398e-08	26	18				
ZNF483	158399	broad.mit.edu	37	9	114304279	114304279	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:114304279G>C	uc004bff.2	+	6	1288	c.1064G>C	c.(1063-1065)GGA>GCA	p.G355A	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	355					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAAACCGCCGGAGAAAAGTCA	0.438		NaN											0	0	0	0.01441	0	105	7				
COL27A1	85301	broad.mit.edu	37	9	116930564	116930564	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116930564G>A	uc011lxl.1	+	3	729	c.729G>A	c.(727-729)CAG>CAA	p.Q243Q	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.Q93Q	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	243					cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						ACACGTACCAGTCCCCACTGG	0.567		NaN											0	0	0	0.001984	0	7	162				
COL27A1	85301	broad.mit.edu	37	9	116931301	116931301	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116931301C>T	uc011lxl.1	+	3	1466	c.1466C>T	c.(1465-1467)TCA>TTA	p.S489L	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S339L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	489	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GCTTTATCCTCATCTCCTGCC	0.592		NaN											0	0	0	0.01441	0	165	254				
TNFSF8	944	broad.mit.edu	37	9	117668133	117668133	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668133G>C	uc004bji.1	-	3	472	c.285C>G	c.(283-285)TTC>TTG	p.F95L		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	95	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						ATGACTTCTTGAATGGAGCCC	0.413		NaN											0	0	0	0.01441	0	49	185				
TNFSF8	944	broad.mit.edu	37	9	117668170	117668170	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668170G>A	uc004bji.1	-	3	435	c.248C>T	c.(247-249)TCA>TTA	p.S83L		NM_001244	NP_001235	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily,	83	Extracellular (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			lung(3)|skin(2)|ovary(1)	6						GAGGTCTTCTGAGCAATTTCC	0.403		NaN											0	0	0	0.015359	0	31	144				
TNC	3371	broad.mit.edu	37	9	117800543	117800543	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117800543T>C	uc004bjj.3	-	20	5871	c.5509A>G	c.(5509-5511)AAA>GAA	p.K1837E	TNC_uc010mvf.2_Missense_Mutation_p.K1564E	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1837	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						ACCTTACCTTTCTCGCCTGTG	0.517		NaN											0	0	0	0.01441	0	82	94				
GOLGA2	2801	broad.mit.edu	37	9	131020315	131020315	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131020315C>A	uc011maw.1	-	22	2384	c.2371G>T	c.(2371-2373)GAT>TAT	p.D791Y	GOLGA2_uc010mxw.2_Missense_Mutation_p.D114Y|GOLGA2_uc004buh.2_Missense_Mutation_p.D264Y	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	791	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CACACAGAATCACCCCCGGTC	0.687		NaN											1	0	5.20837e-25	0.00874	7.32178e-25	41	63				
ZER1	10444	broad.mit.edu	37	9	131504994	131504994	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131504994T>C	uc004bwa.1	-	9	1823	c.1390A>G	c.(1390-1392)AAC>GAC	p.N464D		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	464	ARM 1.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						ATGCTGAAGTTGCAGAGCGTC	0.617		NaN											0	0	0	0.001168	0	6	32				
USP20	10868	broad.mit.edu	37	9	132637006	132637006	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:132637006C>T	uc004bys.2	+	18	2103	c.1892C>T	c.(1891-1893)TCG>TTG	p.S631L	USP20_uc004byr.2_Missense_Mutation_p.S631L|USP20_uc004byt.1_Missense_Mutation_p.S631L	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	631					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GACCTCCTCTCGGTCATCTGC	0.647		NaN											0	0	0	0.01441	0	49	103				
SETX	23064	broad.mit.edu	37	9	135158707	135158707	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:135158707C>G	uc004cbk.2	-	19	6673	c.6490G>C	c.(6490-6492)GAG>CAG	p.E2164Q	SETX_uc004cbj.2_Missense_Mutation_p.E1783Q|SETX_uc010mzt.2_Missense_Mutation_p.E1783Q	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2164					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAGCAGACTCAAGTAGTAAA	0.483		NaN											0	0	0	0.009096	0	4	116				
RXRA	6256	broad.mit.edu	37	9	137300887	137300887	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:137300887C>G	uc004cfb.2	+	4	694	c.532C>G	c.(532-534)CTG>GTG	p.L178V	RXRA_uc004cfc.1_Missense_Mutation_p.L81V	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	178	NR C4-type.|Nuclear receptor.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CAAGGACTGCCTGATTGACAA	0.627		NaN											0	0	0	0.001168	0	5	195		Valid		
SHROOM2	357	broad.mit.edu	37	X	9864156	9864156	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:9864156C>G	uc004csu.1	+	4	2298	c.2208C>G	c.(2206-2208)CCC>CCG	p.P736P		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	736	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CCCAGCCACCCTCATCTACAA	0.622		NaN											0	0	0	0.008291	0	9	9				
GEMIN8	54960	broad.mit.edu	37	X	14038306	14038306	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:14038306C>G	uc004cwb.2	-	4	706	c.363G>C	c.(361-363)GAG>GAC	p.E121D	GEMIN8_uc004cwc.2_Missense_Mutation_p.E121D|GEMIN8_uc004cwd.2_Missense_Mutation_p.E121D	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	121					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						CAGTCTCCATCTCTTCCTCTT	0.483		NaN											0	0	0	0.01441	0	115	24				
GPR64	10149	broad.mit.edu	37	X	19021018	19021018	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:19021018C>A	uc004cyx.2	-	24	2340	c.2176G>T	c.(2176-2178)GTA>TTA	p.V726L	GPR64_uc004cyy.2_Missense_Mutation_p.V723L|GPR64_uc004cyz.2_Missense_Mutation_p.V712L|GPR64_uc004czb.2_Missense_Mutation_p.V726L|GPR64_uc004czc.2_Missense_Mutation_p.V710L|GPR64_uc004czd.2_Missense_Mutation_p.V702L|GPR64_uc004cze.2_Missense_Mutation_p.V696L|GPR64_uc004czf.2_Missense_Mutation_p.V688L|GPR64_uc004cza.2_Missense_Mutation_p.V704L|GPR64_uc004cyw.2_Missense_Mutation_p.V710L|GPR64_uc010nfj.2_Missense_Mutation_p.V607L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	726	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GTATTAAATACTTTGACAAGG	0.418		NaN											1	0	8.24728e-16	0.004656	1.14003e-15	25	33				
DMD	1756	broad.mit.edu	37	X	32429985	32429985	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:32429985G>T	uc004dda.1	-	30	4361	c.4117C>A	c.(4117-4119)CAG>AAG	p.Q1373K	DMD_uc004dcw.2_Missense_Mutation_p.Q29K|DMD_uc004dcx.2_Missense_Mutation_p.Q32K|DMD_uc004dcz.2_Missense_Mutation_p.Q1250K|DMD_uc004dcy.1_Missense_Mutation_p.Q1369K|DMD_uc004ddb.1_Missense_Mutation_p.Q1365K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1373					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTCTCCTGGGCAGACTGG	0.418		NaN											1	0	5.18039e-06	0.00308	6.79772e-06	7	8				
EDA2R	60401	broad.mit.edu	37	X	65824270	65824270	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:65824270C>T	uc004dwq.2	-	3	356	c.345G>A	c.(343-345)GAG>GAA	p.E115E	EDA2R_uc004dwr.2_Silent_p.E115E|EDA2R_uc004dws.2_Silent_p.E115E|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.E115E|EDA2R_uc004dwt.1_Silent_p.E115E	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	115	TNFR-Cys 3.|Extracellular (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						CACATTGAACCTCAGAGGTGG	0.512		NaN											0	0	0	0.020292	0	13	28				
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:77224638G>A	uc004ecy.1	-	1	498	c.498C>T	c.(496-498)TTC>TTT	p.F166F	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	166					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CTTCATTCCAGAAGGGCAGAG	0.517		NaN											0	0	0	0.011902	0	43	53				
CENPI	2491	broad.mit.edu	37	X	100382569	100382569	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:100382569C>G	uc004egx.2	+	10	1259	c.989C>G	c.(988-990)TCT>TGT	p.S330C	CENPI_uc011mrg.1_Missense_Mutation_p.S330C|CENPI_uc004egy.2_Missense_Mutation_p.S330C	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	330					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						ATGAGTCTTTCTGATTGTCTG	0.378		NaN											0	0	0	0.014758	0	5	50				
CXorf57	55086	broad.mit.edu	37	X	105882904	105882904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:105882904C>A	uc004emi.3	+	9	1872	c.1721C>A	c.(1720-1722)TCA>TAA	p.S574*	CXorf57_uc004emj.3_Intron	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	574										ovary(1)|lung(1)|breast(1)	3						GCCTCAGCATCAGAAACACTT	0.398		NaN											1	0	7.41877e-09	0.012319	9.92366e-09	21	37				
PLS3	5358	broad.mit.edu	37	X	114869355	114869355	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:114869355G>C	uc004eqd.2	+	7	1135	c.745G>C	c.(745-747)GAA>CAA	p.E249Q	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.E227Q|PLS3_uc004eqe.2_Missense_Mutation_p.E249Q|PLS3_uc011mtg.1_Missense_Mutation_p.E222Q|PLS3_uc011mth.1_Missense_Mutation_p.E204Q	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	249	Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						AAGCAGGAATGAAGGTAATGG	0.408		NaN											0	0	0	0.007291	0	26	51				
MAGEC3	139081	broad.mit.edu	37	X	140985120	140985120	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:140985120G>A	uc011mwp.1	+	7	1576	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K	MAGEC3_uc004fbs.2_Missense_Mutation_p.E228K|MAGEC3_uc010nsj.2_Missense_Mutation_p.E228K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	526	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTTTGAAGACACATT	0.438		NaN											0	0	0	0.01441	0	52	99				
MTM1	4534	broad.mit.edu	37	X	149767125	149767125	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:149767125G>A	uc004fef.3	+	4	282	c.206G>A	c.(205-207)CGT>CAT	p.R69H	MTM1_uc011mxx.1_Intron|MTM1_uc011mxy.1_Missense_Mutation_p.R69H|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_5'UTR	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	69	GRAM.		R -> P (in XCNM).|R -> C (in XCNM; mild; reduced response to PI5P and reduced binding to PI(3,5)P2).|R -> S (in XCNM; severe).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAATTATCGTCTTTATTTA	0.299		NaN											0	0	0	0.004482	0	8	13				
DCDC2B	149069	broad.mit.edu	37	1	32678173	32678173	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:32678173G>A	uc001bun.2	+	5	610	c.610G>A	c.(610-612)GAG>AAG	p.E204K		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	204	Doublecortin 2.				intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGGAGAGGATGAGTTCAAGGA	0.612		NaN											0	0	0	0.009535	0	33	85				
HPCA	3208	broad.mit.edu	37	1	33354707	33354707	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:33354707C>T	uc001bwh.2	+	2	248	c.208C>T	c.(208-210)CGC>TGC	p.R70C		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	70	EF-hand 2.						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCACGTCTTCCGCACCTTTGA	0.557		NaN											0	0	0	0.009718	0	37	119				
MACF1	23499	broad.mit.edu	37	1	39851577	39851577	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:39851577C>T	uc010oiu.1	+	21	9771	c.9640C>T	c.(9640-9642)CTC>TTC	p.L3214F	MACF1_uc010ois.1_Missense_Mutation_p.L2712F|MACF1_uc001cda.1_Missense_Mutation_p.L2599F|MACF1_uc001cdc.1_Missense_Mutation_p.L1778F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4779	LRR 18.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCCTGCCTCTCCAAGGTTT	0.483		NaN											0	0	0	0.00632	0	24	54				
GLIS1	148979	broad.mit.edu	37	1	54060263	54060263	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:54060263G>A	uc001cvr.1	-	3	880	c.313C>T	c.(313-315)CGG>TGG	p.R105W		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGGGGCTCCGGAGTCCATTT	0.662		NaN											0	0	0	0.010729	0	9	33				
LRRIQ3	127255	broad.mit.edu	37	1	74507362	74507362	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:74507362C>T	uc001dfy.3	-	7	1445	c.1253G>A	c.(1252-1254)CGA>CAA	p.R418Q	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	418										ovary(2)	2						ACTAAATGTTCGGAGTTTCAT	0.363		NaN											0	0	0	0.013537	0	13	30				
LPHN2	23266	broad.mit.edu	37	1	82436188	82436188	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:82436188T>C	uc001dit.3	+	15	3054	c.2873T>C	c.(2872-2874)ATT>ACT	p.I958T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I958T|LPHN2_uc001div.2_Missense_Mutation_p.I958T|LPHN2_uc009wcd.2_Missense_Mutation_p.I958T|LPHN2_uc001diw.2_Missense_Mutation_p.I542T|LPHN2_uc009wce.1_Missense_Mutation_p.I44T	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	971	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAGCTGCTATTGACTATAAG	0.353		NaN											0	0	0	0.010729	0	11	35				
CELSR2	1952	broad.mit.edu	37	1	109806339	109806339	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:109806339C>T	uc001dxa.3	+	9	5002	c.4941C>T	c.(4939-4941)CGC>CGT	p.R1647R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1647	Extracellular (Potential).|Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCGCACGCGCCAGGCCGACG	0.667		NaN									OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00874	0	39	104				
C1orf183	55924	broad.mit.edu	37	1	112269937	112269937	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:112269937C>G	uc001ebo.1	-	2	705	c.547G>C	c.(547-549)GAG>CAG	p.E183Q	C1orf183_uc001ebp.1_Missense_Mutation_p.E168Q	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	183										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		CCCCCAGTCTCACCCTTCTCC	0.577		NaN											0	0	0	0.01441	0	68	53				
PDE4DIP	9659	broad.mit.edu	37	1	144923816	144923816	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:144923816C>A	uc001elw.3	-	6	933	c.642G>T	c.(640-642)ATG>ATT	p.M214I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280I|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377I|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	214					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCTTCAGTCATGGGCTAGG	0.398		NaN	T	PDGFRB	MPD								1	0	1.15919e-05	0.008871	1.20509e-05	20	191				
ZNF687	57592	broad.mit.edu	37	1	151260360	151260360	+	Silent	SNP	C	C	T	rs142842127	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:151260360C>T	uc001exq.2	+	2	1691	c.1593C>T	c.(1591-1593)ACC>ACT	p.T531T	ZNF687_uc001exp.1_Silent_p.T540T|ZNF687_uc009wmo.2_Silent_p.T531T|ZNF687_uc009wmp.2_Silent_p.T531T	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCCCACCGGCTACCGCT	0.617		NaN											0	0	0	0.003163	0	15	76				
APCS	325	broad.mit.edu	37	1	159557901	159557901	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:159557901G>C	uc001ftv.2	+	2	171	c.75G>C	c.(73-75)GGG>GGC	p.G25G		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	25	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)					ACCTCAGTGGGAAGGTGTTTG	0.393		NaN											0	0	0	0.013537	0	11	49				
PVRL4	81607	broad.mit.edu	37	1	161046208	161046208	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161046208C>G	uc001fxo.2	-	4	1087	c.788G>C	c.(787-789)AGA>ACA	p.R263T	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	263	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCCTTCTCTGCCAATGTG	0.552		NaN											0	0	0	0.00874	0	44	66				
FCGR2A	2212	broad.mit.edu	37	1	161480706	161480706	+	Silent	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161480706T>A	uc001gan.2	+	5	755	c.702T>A	c.(700-702)GCT>GCA	p.A234A	FCGR2A_uc001gam.2_Silent_p.A233A|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	234	Helical; (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGTTGCTGCTGTAGTGGCCT	0.517		NaN											0	0	0	0.01441	0	47	225				
GORAB	92344	broad.mit.edu	37	1	170511708	170511708	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:170511708C>G	uc001gha.2	+	3	598	c.571C>G	c.(571-573)CTT>GTT	p.L191V	GORAB_uc001ggz.3_Missense_Mutation_p.L191V|GORAB_uc009wvx.2_Missense_Mutation_p.L11V|GORAB_uc001ghb.2_Missense_Mutation_p.L11V|GORAB_uc001ghc.2_Missense_Mutation_p.L11V|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	191	Potential.					Golgi apparatus|nucleus					0						TAAAAAAGCTCTTTTGGCTAA	0.403		NaN											0	0	0	0.014323	0	20	89				
IVNS1ABP	10625	broad.mit.edu	37	1	185269586	185269586	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:185269586G>C	uc001grl.2	-	11	1848	c.1225C>G	c.(1225-1227)CAA>GAA	p.Q409E	IVNS1ABP_uc001gri.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc001grj.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.Q191E|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.Q69E	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	409	Kelch 1.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						ACAGCCATTTGAAATCGGGCT	0.428		NaN											0	0	0	0.000602	0	5	29				
IL19	29949	broad.mit.edu	37	1	207014389	207014389	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:207014389A>T	uc001hep.2	+	6	1343	c.404A>T	c.(403-405)AAT>ATT	p.N135I	IL19_uc001heo.2_Missense_Mutation_p.N173I	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 2 precursor	135					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAGCCACCAATGCCACCAGA	0.517		NaN											0	0	0	0.013537	0	13	27				
CEP170	9859	broad.mit.edu	37	1	243328008	243328008	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:243328008G>A	uc001hzs.2	-	13	3662	c.3254C>T	c.(3253-3255)TCA>TTA	p.S1085L	CEP170_uc001hzt.2_Missense_Mutation_p.S987L|CEP170_uc001hzu.2_Missense_Mutation_p.S987L|CEP170_uc001hzv.1_Missense_Mutation_p.S463L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1085	Targeting to microtubules.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTACTAGATGAACCAGATAC	0.483		NaN											0	0	0	0.001168	0	4	34				
OR2M7	391196	broad.mit.edu	37	1	248487560	248487560	+	Missense_Mutation	SNP	T	T	C	rs41304034		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:248487560T>C	uc010pzk.1	-	1	311	c.311A>G	c.(310-312)TAT>TGT	p.Y104C		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGATATATAGAAGAAAAT	0.458		NaN											0	0	0	0.01441	0	62	74				
KIN	22944	broad.mit.edu	37	10	7816818	7816818	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:7816818G>A	uc001ijt.2	-	7	692	c.644C>T	c.(643-645)TCC>TTC	p.S215F	KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.S215F|KIN_uc010qba.1_Missense_Mutation_p.S109F	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein	215					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGTTGCTCCGGATGAGCTACA	0.313		NaN											0	0	0	0.008871	0	18	87				
DCLRE1C	64421	broad.mit.edu	37	10	14977537	14977537	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:14977537G>C	uc001inn.2	-	6	474	c.389C>G	c.(388-390)ACT>AGT	p.T130S	DCLRE1C_uc010qbx.1_Missense_Mutation_p.T130S|DCLRE1C_uc001inl.2_Missense_Mutation_p.T10S|DCLRE1C_uc009xji.2_Missense_Mutation_p.T15S|DCLRE1C_uc001inm.2_Missense_Mutation_p.T10S|DCLRE1C_uc001ino.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inq.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inr.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjj.1_5'Flank	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	130					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GTACAGGACAGTTCCATTATT	0.443		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					0	0	0	0.007413	0	17	116				
CCNY	219771	broad.mit.edu	37	10	35819118	35819118	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:35819118C>T	uc001iyw.3	+	7	706	c.526C>T	c.(526-528)CGG>TGG	p.R176W	CCNY_uc001iyu.3_Missense_Mutation_p.R122W|CCNY_uc001iyv.3_Missense_Mutation_p.R122W|CCNY_uc001iyx.3_Missense_Mutation_p.R122W|CCNY_uc009xmb.2_Missense_Mutation_p.R151W|CCNY_uc010qet.1_Missense_Mutation_p.R43W	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	176	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						CCGGTTCGTTCGGACACTGTT	0.532		NaN											0	0	0	0.004007	0	17	42				
C10orf72	196740	broad.mit.edu	37	10	50227712	50227712	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:50227712C>T	uc001jhf.2	-	8	975	c.946G>A	c.(946-948)GAG>AAG	p.E316K		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	316	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						TTGTTCTCCTCGAAGAGGATC	0.522		NaN											0	0	0	0.008871	0	18	59				
CTNNA3	29119	broad.mit.edu	37	10	68979430	68979430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:68979430G>A	uc009xpn.1	-	6	901	c.778C>T	c.(778-780)CAG>TAG	p.Q260*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q260*|CTNNA3_uc001jmx.3_Nonsense_Mutation_p.Q260*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q120*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q272*	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	260					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GTCATATTCTGGATCCCTTGT	0.458		NaN											0	0	0	0.000602	0	5	112				
TTC18	118491	broad.mit.edu	37	10	75013740	75013740	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:75013740G>C	uc009xrc.2	-	28	3480	c.3359C>G	c.(3358-3360)TCT>TGT	p.S1120C	TTC18_uc001jty.2_Missense_Mutation_p.S1120C|MRPS16_uc010qkh.1_5'Flank|MRPS16_uc001jts.1_5'Flank|MRPS16_uc001jtt.1_5'Flank|uc001jtu.1_RNA|TTC18_uc001jtv.3_Missense_Mutation_p.S224C|TTC18_uc001jtw.3_Missense_Mutation_p.S194C|TTC18_uc001jtx.2_Missense_Mutation_p.S471C	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1120							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					GTATCAGAAAGATGGATTTCC	0.458		NaN											0	0	0	0.00278	0	21	83				
GBF1	8729	broad.mit.edu	37	10	104123535	104123535	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:104123535G>A	uc001kux.1	+	17	2323	c.2083G>A	c.(2083-2085)GAA>AAA	p.E695K	GBF1_uc001kuy.1_Missense_Mutation_p.E695K|GBF1_uc001kuz.1_Missense_Mutation_p.E696K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	695	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAACTAATTGAAATTAAAAA	0.463		NaN											0	0	0	0.00333	0	24	96				
C10orf79	80217	broad.mit.edu	37	10	105912421	105912421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:105912421C>T	uc001kxw.2	-	28	3720	c.3604G>A	c.(3604-3606)GAA>AAA	p.E1202K	C10orf79_uc009xxq.2_Missense_Mutation_p.E510K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1202	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTCAAATGTTCATCAAAGGCC	0.328		NaN											0	0	0	0.001168	0	5	40				
TDRD1	56165	broad.mit.edu	37	10	115962010	115962010	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:115962010G>A	uc001lbg.1	+	6	802	c.649G>A	c.(649-651)GAA>AAA	p.E217K	TDRD1_uc001lbf.2_Missense_Mutation_p.E208K|TDRD1_uc001lbh.1_Missense_Mutation_p.E208K|TDRD1_uc001lbi.1_Missense_Mutation_p.E208K|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	217					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCACAAACTTGAAAATAAATC	0.299		NaN											0	0	0	0.008291	0	11	23				
FOXI2	399823	broad.mit.edu	37	10	129536033	129536033	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:129536033G>A	uc009yas.2	+	1	496	c.496G>A	c.(496-498)GAC>AAC	p.D166N	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	166	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGTGCCCCGCGACGAGGACGA	0.667		NaN											0	0	0	0.009096	0	4	19				
PPP2R2D	55844	broad.mit.edu	37	10	133769275	133769275	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:133769275G>C	uc001lks.2	+	7	1314	c.1071G>C	c.(1069-1071)GAG>GAC	p.E357D	PPP2R2D_uc001lkr.2_Missense_Mutation_p.E163D|PPP2R2D_uc001lkt.2_Missense_Mutation_p.E163D|PPP2R2D_uc009yay.2_Missense_Mutation_p.E225D	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	390					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCTCGAGAGAGAGCAGCAAAC	0.547		NaN											0	0	0	0.007413	0	19	46				
OR51M1	390059	broad.mit.edu	37	11	5411026	5411026	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:5411026A>T	uc010qzc.1	+	1	398	c.398A>T	c.(397-399)GAC>GTC	p.D133V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	133						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTCCTTTGACCGCCTTGTG	0.507		NaN											0	0	0	0.009096	0	4	69				
RAG2	5897	broad.mit.edu	37	11	36614207	36614207	+	Silent	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:36614207G>T	uc001mwv.3	-	2	1700	c.1512C>A	c.(1510-1512)TCC>TCA	p.S504S	RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	504					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTTACGGAGGGATTTCATTG	0.413		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				1	0	8.28177e-16	0.007413	9.10561e-16	18	44				
FNBP4	23360	broad.mit.edu	37	11	47741610	47741610	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:47741610G>C	uc009ylv.2	-	16	2987	c.2834C>G	c.(2833-2835)TCT>TGT	p.S945C	FNBP4_uc001ngi.2_Missense_Mutation_p.S259C|FNBP4_uc001ngj.2_Missense_Mutation_p.S852C	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	945										ovary(1)	1						TTTTACCAAAGATGGCATTTT	0.398		NaN											0	0	0	0.013537	0	11	24				
OR5D18	219438	broad.mit.edu	37	11	55587183	55587183	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:55587183C>G	uc010rin.1	+	1	78	c.78C>G	c.(76-78)GTC>GTG	p.V26V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				AACTGCAAGTCCCACTCTTCC	0.463		NaN											0	0	0	0.004482	0	8	30				
OR8K3	219473	broad.mit.edu	37	11	56085825	56085825	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:56085825A>T	uc010rjf.1	+	1	43	c.43A>T	c.(43-45)ACG>TCG	p.T15S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTCATTCTTACGGGAATCAC	0.418		NaN											0	0	0	0.004672	0	3	40				
C11orf84	144097	broad.mit.edu	37	11	63585488	63585488	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:63585488G>C	uc001nxt.2	+	2	575	c.339G>C	c.(337-339)CAG>CAC	p.Q113H		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	113											0						TCTTGGAGCAGCACCCTCACA	0.642		NaN											0	0	0	0.008291	0	10	51				
PPP1CA	5499	broad.mit.edu	37	11	67168200	67168200	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:67168200C>G	uc001okw.1	-	3	501	c.378G>C	c.(376-378)GAG>GAC	p.E126D	PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.E131D|PPP1CA_uc001oku.1_Missense_Mutation_p.E137D|PPP1CA_uc001okv.1_Missense_Mutation_p.E82D|PPP1CA_uc001okx.1_Missense_Mutation_p.E214D|PPP1CA_uc001oky.2_Missense_Mutation_p.E126D	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	126					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGCTGGCACACTCGTGGTTCC	0.562		NaN											0	0	0	0.00499	0	17	81				
XRRA1	143570	broad.mit.edu	37	11	74556166	74556166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:74556166C>A	uc009yub.2	-	16	2187	c.1855G>T	c.(1855-1857)GAA>TAA	p.E619*	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovo.2_Nonsense_Mutation_p.E227*|XRRA1_uc001ovq.3_Nonsense_Mutation_p.E532*|XRRA1_uc001ovp.3_Nonsense_Mutation_p.E344*|XRRA1_uc001ovr.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovs.1_Nonsense_Mutation_p.E221*	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	619					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						AGCAGTTCTTCATAGCCGTGG	0.537		NaN											1	0	2.01872e-29	0.01441	2.25495e-29	41	105				
C11orf82	220042	broad.mit.edu	37	11	82642952	82642952	+	Missense_Mutation	SNP	G	G	A	rs143776868	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:82642952G>A	uc001ozt.2	+	6	816	c.572G>A	c.(571-573)AGG>AAG	p.R191K	C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	191					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						TTTAATTTCAGGAAACTTCAG	0.408		NaN											0	0	0	0.000602	0	4	87				
C11orf63	79864	broad.mit.edu	37	11	122795698	122795698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:122795698C>T	uc001pym.2	+	4	1255	c.958C>T	c.(958-960)CAA>TAA	p.Q320*		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	320										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAATGGCATCAAAGAGCACA	0.408		NaN											0	0	0	0.004656	0	26	8				
VWF	7450	broad.mit.edu	37	12	6161750	6161750	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6161750G>C	uc001qnn.1	-	16	2395	c.2145C>G	c.(2143-2145)ATC>ATG	p.I715M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	715					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGGCTGGAAGATCTCACCGT	0.512		NaN											0	0	0	0.01441	0	109	133				
CDCA3	83461	broad.mit.edu	37	12	6958994	6958994	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6958994C>T	uc001qrg.2	-	4	407	c.279G>A	c.(277-279)CTG>CTA	p.L93L	CDCA3_uc001qre.2_Silent_p.L93L|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	93	F-box-like.				cell division|mitosis	cytosol					0						ATACTTCACTCAGCTGTTTCA	0.463		NaN											0	0	0	0.014323	0	23	119				
C1S	716	broad.mit.edu	37	12	7177163	7177163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:7177163T>A	uc001qsj.2	+	15	1994	c.1275T>A	c.(1273-1275)TGT>TGA	p.C425*	C1S_uc001qsk.2_Nonsense_Mutation_p.C425*|C1S_uc001qsl.2_Nonsense_Mutation_p.C425*|C1S_uc009zfr.2_Nonsense_Mutation_p.C258*|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	425					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCCTAGTCTGTGGAGTCCCCA	0.443		NaN											0	0	0	0.00278	0	22	128				
CSDA	8531	broad.mit.edu	37	12	10854593	10854593	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:10854593C>T	uc001qyt.2	-	8	1262	c.1019G>A	c.(1018-1020)CGT>CAT	p.R340H	CSDA_uc001qyu.2_Missense_Mutation_p.R271H	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	340					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GTTAGGAGGACGCGGGCGACG	0.517		NaN											0	0	0	0.01441	0	111	194				
C12orf35	55196	broad.mit.edu	37	12	32136551	32136551	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32136551G>C	uc001rks.2	+	4	3076	c.2662G>C	c.(2662-2664)GAT>CAT	p.D888H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	888										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TGTGAGTAGTGATACATTACA	0.373		NaN											0	0	0	0.00623	0	40	56				
PKP2	5318	broad.mit.edu	37	12	32955491	32955491	+	Splice_Site	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32955491C>A	uc001rlj.3	-	11	2261	c.2146_splice	c.e11-1	p.M716_splice	PKP2_uc001rlk.3_Splice_Site_p.M672_splice|PKP2_uc010skj.1_Splice_Site_p.M669_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b						cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTCGGCATCTGTTTTGTGA	0.408		NaN											1	0	8.60227e-14	0.004007	9.40874e-14	12	89				
TMBIM6	7009	broad.mit.edu	37	12	50149478	50149478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50149478C>T	uc001rux.2	+	4	358	c.226C>T	c.(226-228)CAT>TAT	p.H76Y	TMBIM6_uc010sml.1_Missense_Mutation_p.H76Y|TMBIM6_uc001ruy.2_Missense_Mutation_p.H134Y|TMBIM6_uc001ruz.2_Missense_Mutation_p.H76Y	NM_003217	NP_003208	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	76					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0						GGCAACACCTCATAGCCATGA	0.433		NaN											0	0	0	0.003954	0	26	182				
LIMA1	51474	broad.mit.edu	37	12	50571472	50571472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50571472G>C	uc001rwj.3	-	11	1829	c.1655C>G	c.(1654-1656)TCA>TGA	p.S552*	LIMA1_uc001rwg.3_Nonsense_Mutation_p.S250*|LIMA1_uc001rwh.3_Nonsense_Mutation_p.S391*|LIMA1_uc001rwi.3_Nonsense_Mutation_p.S393*|LIMA1_uc001rwk.3_Nonsense_Mutation_p.S553*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	552					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1						TTTGGGCTTTGACATTTTGAT	0.502		NaN											0	0	0	0.009535	0	31	183				
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56482341G>T	uc001sjh.2	+	8	1082	c.889G>T	c.(889-891)GAT>TAT	p.D297Y	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	297	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512		NaN											1	0	8.8899e-71	0.01441	9.98331e-71	132	196		Valid		
GLS2	27165	broad.mit.edu	37	12	56865968	56865968	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56865968G>C	uc001slj.2	-	16	1802	c.1523C>G	c.(1522-1524)TCA>TGA	p.S508*	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Nonsense_Mutation_p.S243*|GLS2_uc009zot.2_Nonsense_Mutation_p.S169*	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	508					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCCATGGCTGACAAGGCAAA	0.502		NaN											0	0	0	0.01441	0	74	111				
NUP107	57122	broad.mit.edu	37	12	69127366	69127366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:69127366G>T	uc001suf.2	+	24	2351	c.2236G>T	c.(2236-2238)GAA>TAA	p.E746*	NUP107_uc001sug.2_Nonsense_Mutation_p.E505*|NUP107_uc010stj.1_Nonsense_Mutation_p.E717*	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	746					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTATCCGAGAACATTTGTG	0.398		NaN											1	0	0.00198382	0.001984	0.0020322	7	121				
PPFIA2	8499	broad.mit.edu	37	12	81675058	81675058	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:81675058T>C	uc001szo.1	-	27	3351	c.3190A>G	c.(3190-3192)AAA>GAA	p.K1064E	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	963										ovary(3)|lung(2)|pancreas(1)	6						TCCACCATTTTTAAATGGACA	0.323		NaN											0	0	0	0.001168	0	6	16				
ACACB	32	broad.mit.edu	37	12	109625935	109625935	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:109625935C>G	uc001tob.2	+	13	2231	c.2112C>G	c.(2110-2112)TTC>TTG	p.F704L	ACACB_uc001toc.2_Missense_Mutation_p.F704L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	704	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGCACTGCTTCTCCTGGGGAG	0.393		NaN											0	0	0	0.012319	0	20	110				
GCN1L1	10985	broad.mit.edu	37	12	120565654	120565654	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:120565654C>T	uc001txo.2	-	58	8028	c.8015G>A	c.(8014-8016)TGA>TAA	p.*2672*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2672					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGCCTCTCATGTCAGGAT	0.542		NaN											0	0	0	0.008361	0	30	232				
RSRC2	65117	broad.mit.edu	37	12	123001882	123001882	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123001882G>A	uc001ucr.2	-	5	640	c.494C>T	c.(493-495)TCG>TTG	p.S165L	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.S106L|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.S117L|RSRC2_uc001ucu.2_Missense_Mutation_p.S165L	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	165	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTGGATCTCGATTTCTTCCT	0.517		NaN											0	0	0	0.001855	0	13	115				
SNRNP35	11066	broad.mit.edu	37	12	123950235	123950235	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123950235C>T	uc001ufb.1	+	2	264	c.148C>T	c.(148-150)CTC>TTC	p.L50F	SNRNP35_uc010tar.1_Missense_Mutation_p.L55F|SNRNP35_uc009zxz.2_Missense_Mutation_p.L55F|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	50					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0						AGGAGATCCCCTCCTCACCCT	0.557		NaN											0	0	0	0.006122	0	17	89				
DHX37	57647	broad.mit.edu	37	12	125473494	125473494	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:125473494G>A	uc001ugy.2	-	1	174	c.75C>T	c.(73-75)CCC>CCT	p.P25P		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	25							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGCGGCTCGGGGGGGCCCT	0.711		NaN											0	0	0	0.003755	0	29	34				
CCNA1	8900	broad.mit.edu	37	13	37012218	37012218	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr13:37012218G>A	uc001uvr.3	+	4	909	c.559G>A	c.(559-561)GTA>ATA	p.V187I	CCNA1_uc010teo.1_Missense_Mutation_p.V143I|CCNA1_uc010abq.2_Missense_Mutation_p.V143I|CCNA1_uc010abp.2_Missense_Mutation_p.V143I|CCNA1_uc001uvs.3_Missense_Mutation_p.V186I|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	187					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCCTATGCTGGTAGATTCATC	0.383		NaN											0	0	0	0.003755	0	36	53				
OR4K5	79317	broad.mit.edu	37	14	20389081	20389081	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:20389081C>A	uc010tkw.1	+	1	316	c.316C>A	c.(316-318)CTT>ATT	p.L106I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTATTCACCTTTTTACTGG	0.433		NaN											1	0	1.99824e-07	0.00499	2.10869e-07	18	44				
DHRS4L1	728635	broad.mit.edu	37	14	24520155	24520155	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:24520155G>C	uc010alc.2	+	10	824	c.824G>C	c.(823-825)GGA>GCA	p.G275A	DHRS4L1_uc010tnu.1_RNA|LRRC16B_uc001wlj.2_5'Flank	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	275							binding|oxidoreductase activity				0						ATGGTGGGTGGAGGAACCCCG	0.597		NaN											0	0	0	0.006214	0	8	22				
SEC23A	10484	broad.mit.edu	37	14	39545169	39545169	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:39545169G>C	uc001wup.1	-	8	1180	c.957C>G	c.(955-957)GAC>GAG	p.D319E	SEC23A_uc010tqa.1_Missense_Mutation_p.D181E|SEC23A_uc010tqb.1_Missense_Mutation_p.D290E|SEC23A_uc010tqc.1_Missense_Mutation_p.D181E	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	319					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATTTGGCATTGTCTTTGTCAA	0.383		NaN											0	0	0	0.000602	0	5	18				
AHNAK2	113146	broad.mit.edu	37	14	105409421	105409421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:105409421C>T	uc010axc.1	-	7	12487	c.12367G>A	c.(12367-12369)GAC>AAC	p.D4123N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D4023N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4123						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCTTGTCGGCCAGGGAC	0.587		NaN											0	0	0	0.01441	0	96	250				
MAGEL2	54551	broad.mit.edu	37	15	23889145	23889145	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23889145G>C	uc001ywj.3	-	1	2031	c.1936C>G	c.(1936-1938)CGC>GGC	p.R646G		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACCTATTAGCGGGGAGGGGGC	0.577		NaN											0	0	0	0.00308	0	8	16				
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23890799G>C	uc001ywj.3	-	1	377	c.282C>G	c.(280-282)CCC>CCG	p.P94P		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652		NaN											0	0	0	0.000602	0	5	16				
PLA2G4F	255189	broad.mit.edu	37	15	42439886	42439886	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:42439886C>A	uc001zoz.2	-	12	1197	c.1134G>T	c.(1132-1134)GGG>GGT	p.G378G	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Silent_p.G10G|PLA2G4F_uc010bcr.2_Silent_p.G129G|PLA2G4F_uc001zpa.2_Silent_p.G129G|PLA2G4F_uc010bcs.2_Silent_p.G165G	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTCCTGCAACCCTGCCAGGC	0.577		NaN											1	0	1.88708e-17	0.008361	2.08572e-17	30	83				
C15orf43	145645	broad.mit.edu	37	15	45270712	45270712	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45270712G>C	uc001zuk.2	+	7	566	c.549G>C	c.(547-549)AAG>AAC	p.K183N		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	183											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ATGCCATGAAGAAATTCCTTG	0.294		NaN											0	0	0	0.001984	0	7	20				
DUOX1	53905	broad.mit.edu	37	15	45454121	45454121	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45454121G>C	uc001zus.1	+	31	4388	c.4042G>C	c.(4042-4044)GAG>CAG	p.E1348Q	DUOX1_uc001zut.1_Missense_Mutation_p.E1348Q|DUOX1_uc010bee.1_Missense_Mutation_p.E728Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1348	Cytoplasmic (Potential).|FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCGCCTCAGGGAGATCTACTC	0.617		NaN											0	0	0	0.00308	0	8	22				
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:55919293G>C	uc002adg.2	-	17	2888	c.2840C>G	c.(2839-2841)TCA>TGA	p.S947*		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	947					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358		NaN											0	0	0	0.000602	0	5	31				
CLPX	10845	broad.mit.edu	37	15	65447318	65447318	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:65447318G>A	uc002aom.2	-	11	1485	c.1413C>T	c.(1411-1413)GAC>GAT	p.D471D	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	471					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						TTTCTTCAATGTCTTGGTGAG	0.473		NaN											0	0	0	0.00245	0	15	24				
KIAA1024	23251	broad.mit.edu	37	15	79749968	79749968	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:79749968T>C	uc002bew.1	+	2	1554	c.1479T>C	c.(1477-1479)TCT>TCC	p.S493S	KIAA1024_uc010unk.1_Silent_p.S493S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	493						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TGTGCACCTCTGGTCAGGGCA	0.532		NaN											0	0	0	0.004482	0	8	26				
KIAA1199	57214	broad.mit.edu	37	15	81199027	81199027	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:81199027G>C	uc002bfw.1	+	12	1695	c.1435G>C	c.(1435-1437)GGG>CGG	p.G479R	KIAA1199_uc010unn.1_Missense_Mutation_p.G479R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	479										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCTGCACATCGGGGAGGAGAT	0.582		NaN											0	0	0	0.004656	0	21	53				
WDR93	56964	broad.mit.edu	37	15	90272286	90272286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90272286G>A	uc002boj.2	+	10	1186	c.1085G>A	c.(1084-1086)TGC>TAC	p.C362Y	WDR93_uc010bnr.2_Missense_Mutation_p.C362Y|WDR93_uc010upz.1_Missense_Mutation_p.C79Y	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	362					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCCTAGCTGCCTATTTGCA	0.537		NaN											0	0	0	0.010818	0	29	76				
IQGAP1	8826	broad.mit.edu	37	15	90972827	90972827	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90972827G>A	uc002bpl.1	+	4	420	c.319G>A	c.(319-321)GGC>AGC	p.G107S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	107	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTAGGCGACTGGCCTCCACTT	0.353		NaN											0	0	0	0.00499	0	15	30				
BAIAP3	8938	broad.mit.edu	37	16	1388576	1388576	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:1388576G>A	uc002clk.1	+	2	131	c.131G>A	c.(130-132)AGC>AAC	p.S44N	BAIAP3_uc002clj.2_Missense_Mutation_p.S9N|BAIAP3_uc010uuz.1_Missense_Mutation_p.S9N|BAIAP3_uc010uva.1_Missense_Mutation_p.S9N|BAIAP3_uc010uvb.1_Missense_Mutation_p.S44N|BAIAP3_uc010uvc.1_Missense_Mutation_p.S9N	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	44					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GACATTAAGAGCAGCGTGCTC	0.672		NaN											0	0	0	0.007291	0	27	5				
ZNF263	10127	broad.mit.edu	37	16	3339613	3339613	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:3339613G>A	uc002cuq.2	+	6	1439	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	ZNF263_uc010uww.1_Silent_p.P17P|ZNF263_uc002cur.2_Silent_p.P17P	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						TGGGGCGACCGAAGGAACTGC	0.537		NaN											0	0	0	0.007413	0	20	33				
TEKT5	146279	broad.mit.edu	37	16	10775971	10775971	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:10775971C>T	uc002czz.1	-	4	814	c.742G>A	c.(742-744)GTG>ATG	p.V248M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	248					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						CTCTCCAGCACGTGCTGAGCA	0.552		NaN											0	0	0	0.01441	0	70	84				
HEATR3	55027	broad.mit.edu	37	16	50109505	50109505	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:50109505G>A	uc002efw.2	+	6	808	c.646G>A	c.(646-648)GAG>AAG	p.E216K	HEATR3_uc002efx.2_Missense_Mutation_p.E130K	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	216							binding			ovary(1)|skin(1)	2						GACAGTGACTGAGGATAACCC	0.383		NaN											0	0	0	0.008871	0	19	34				
DYNC1LI2	1783	broad.mit.edu	37	16	66757722	66757722	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:66757722T>C	uc002eqb.1	-	13	1413	c.1382A>G	c.(1381-1383)CAA>CGA	p.Q461R	DYNC1LI2_uc010vis.1_Missense_Mutation_p.Q384R	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	461					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CACAGTCTTTTGTCCTGAAAA	0.333		NaN											0	0	0	0.003163	0	14	26				
FBXO31	79791	broad.mit.edu	37	16	87364973	87364973	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:87364973G>A	uc002fjw.2	-	9	1585	c.1541C>T	c.(1540-1542)GCC>GTC	p.A514V	FBXO31_uc010vot.1_Missense_Mutation_p.A342V|FBXO31_uc002fjv.2_Missense_Mutation_p.A406V	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	514					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCGGAAGGTGGCCTGGACCCG	0.617		NaN											0	0	0	0.004482	0	8	21				
C16orf55	124045	broad.mit.edu	37	16	89724678	89724678	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:89724678C>T	uc002fnw.1	+	2	57	c.57C>T	c.(55-57)TCC>TCT	p.S19S	CHMP1A_uc002fnu.2_5'Flank|CHMP1A_uc002fnv.2_5'Flank|C16orf55_uc002fnx.3_Silent_p.S20S|C16orf55_uc010vpk.1_Silent_p.S20S|C16orf55_uc002fny.1_Intron	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045	19											0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGAAGGGATCCACCTATTCAG	0.532		NaN											0	0	0	0.008291	0	10	37				
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:11648245G>A	uc002gne.2	+	31	6311	c.6243G>A	c.(6241-6243)AAG>AAA	p.K2081K	DNAH9_uc010coo.2_Silent_p.K1375K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2081					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCCCCAAGATTGTGACTG	0.597		NaN											0	0	0	0.004482	0	8	6				
KIAA0100	9703	broad.mit.edu	37	17	26945872	26945872	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:26945872C>G	uc002hbu.2	-	32	5859	c.5760G>C	c.(5758-5760)CTG>CTC	p.L1920L	KIAA0100_uc002hbt.2_Silent_p.L249L	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1920						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTTCCTCTGTCAGGCGCCACC	0.512		NaN											0	0	0	0.001984	0	7	114				
ACBD4	79777	broad.mit.edu	37	17	43215296	43215296	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:43215296G>A	uc002iid.2	+	8	924	c.580G>A	c.(580-582)GGG>AGG	p.G194R	ACBD4_uc010wjj.1_Missense_Mutation_p.G210R|ACBD4_uc002iie.2_Missense_Mutation_p.G210R|ACBD4_uc002iif.2_Missense_Mutation_p.R197Q|ACBD4_uc002iic.2_Missense_Mutation_p.R197Q|ACBD4_uc010dae.2_Missense_Mutation_p.G132R	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	194							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						ACAGAGCAGCGGGCAGCATCT	0.607		NaN											0	0	0	0.001984	0	6	51				
SLC16A6	9120	broad.mit.edu	37	17	66270122	66270122	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:66270122C>T	uc002jgz.1	-	3	510	c.322G>A	c.(322-324)GCC>ACC	p.A108T	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A108T	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	108	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GAGAAGGAGGCGGCCACCATC	0.542		NaN											0	0	0	0.004482	0	9	41				
SOX9	6662	broad.mit.edu	37	17	70119895	70119895	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:70119895G>A	uc002jiw.2	+	3	1269	c.897G>A	c.(895-897)CCG>CCA	p.P299P	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	299					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGTACCTGCCGCCCAACGGCC	0.682		NaN											0	0	0	0.003163	0	13	61				
GALR2	8811	broad.mit.edu	37	17	74073059	74073059	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:74073059G>A	uc002jqm.1	+	2	792	c.711G>A	c.(709-711)ATG>ATA	p.M237I	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	237	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						TGACACGCATGATCCTCATCG	0.706		NaN											0	0	0	0.005443	0	26	20				
DENND1C	79958	broad.mit.edu	37	19	6468350	6468350	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:6468350C>G	uc002mfe.2	-	22	1778	c.1686G>C	c.(1684-1686)GAG>GAC	p.E562D	DENND1C_uc002mfb.2_Missense_Mutation_p.E112D|DENND1C_uc002mfc.2_Missense_Mutation_p.E112D|DENND1C_uc002mfd.2_Missense_Mutation_p.E112D|DENND1C_uc010xje.1_Missense_Mutation_p.E518D	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	562						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						TGTCCAGAATCTCGCTCAACA	0.577		NaN											0	0	0	0.00308	0	7	14				
TYK2	7297	broad.mit.edu	37	19	10477209	10477209	+	Silent	SNP	C	C	T	rs55988893		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10477209C>T	uc002moc.3	-	6	891	c.513G>A	c.(511-513)TCG>TCA	p.S171S	TYK2_uc010dxe.2_5'UTR|TYK2_uc002mod.2_Silent_p.S171S	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	171	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCCTCGGTCGACAGCTCCC	0.557		NaN											0	0	0	0.01441	0	40	141				
S1PR5	53637	broad.mit.edu	37	19	10624779	10624779	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10624779G>A	uc002mot.1	-	2	966	c.909C>T	c.(907-909)CCC>CCT	p.P303P	S1PR5_uc002mou.1_Silent_p.P303P	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	303	Helical; Name=7; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						TGTAGATGATGGGGTTCAGAA	0.672		NaN											0	0	0	0.010729	0	11	35				
CARM1	10498	broad.mit.edu	37	19	11031350	11031350	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11031350C>T	uc002mpz.2	+	12	1476	c.1350C>T	c.(1348-1350)ATC>ATT	p.I450I	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.I233I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	450					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GCTACGACATCAGTATTGTGG	0.622		NaN											0	0	0	0.010504	0	19	62				
RGL3	57139	broad.mit.edu	37	19	11526625	11526625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11526625G>A	uc002mrp.2	-	5	689	c.625C>T	c.(625-627)CAG>TAG	p.Q209*	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Nonsense_Mutation_p.Q209*	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						GTCCACACCTGAGGCGGCTCC	0.572		NaN											0	0	0	0.01441	0	116	162				
ZNF20	7568	broad.mit.edu	37	19	12243475	12243475	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:12243475T>C	uc002mtf.1	-	4	1669	c.1526A>G	c.(1525-1527)AAG>AGG	p.K509R	ZNF20_uc002mte.1_Missense_Mutation_p.K474R|ZNF20_uc002mtg.1_Missense_Mutation_p.K509R	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	509	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCACATTGCTTGCATTGATA	0.403		NaN											0	0	0	0.01441	0	98	121				
COMP	1311	broad.mit.edu	37	19	18896513	18896513	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:18896513C>T	uc002nke.2	-	14	1674	c.1638G>A	c.(1636-1638)CAG>CAA	p.Q546Q	COMP_uc002nkd.2_Silent_p.Q513Q|COMP_uc010xqj.1_Silent_p.Q493Q	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	546	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						TGGGGTCAATCTGCGCGTCAC	0.622		NaN											0	0	0	0.006214	0	9	58				
PRX	57716	broad.mit.edu	37	19	40909734	40909734	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:40909734C>T	uc002onr.2	-	5	332	c.63G>A	c.(61-63)GTG>GTA	p.V21V	PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.V21V	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	21	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCCGTCTCCACGATAATTT	0.682		NaN											0	0	0	0.004672	0	3	11				
KLK15	55554	broad.mit.edu	37	19	51329977	51329977	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:51329977C>G	uc002ptl.2	-	4	549	c.518G>C	c.(517-519)AGC>ACC	p.S173T	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.S172T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	173	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGAGATAATGCTGATGTTGGC	0.562		NaN											0	0	0	0.005443	0	25	145				
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:55450851G>A	uc002qih.3	-	4	1412	c.1336C>T	c.(1336-1338)CGT>TGT	p.R446C	NLRP7_uc002qig.3_Missense_Mutation_p.R446C|NLRP7_uc002qii.3_Missense_Mutation_p.R446C|NLRP7_uc010esk.2_Missense_Mutation_p.R446C|NLRP7_uc010esl.2_Missense_Mutation_p.R474C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	446	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632		NaN											0	0	0	0.012319	0	20	57				
NLRP13	126204	broad.mit.edu	37	19	56424636	56424636	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:56424636T>A	uc010ygg.1	-	5	572	c.547A>T	c.(547-549)AAC>TAC	p.N183Y		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	183							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTCATGTTCTCTCTGTAT	0.418		NaN											0	0	0	0.003163	0	13	84				
SRBD1	55133	broad.mit.edu	37	2	45789849	45789849	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:45789849T>A	uc002rus.2	-	10	1428	c.1352A>T	c.(1351-1353)AAG>ATG	p.K451M	SRBD1_uc010yoc.1_Translation_Start_Site	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	451					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATATTGACCTTAACCGTCAG	0.343		NaN											0	0	0	0.00499	0	16	85				
FAM123C	205147	broad.mit.edu	37	2	131520501	131520501	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:131520501G>A	uc002trw.2	+	2	1046	c.856G>A	c.(856-858)GGC>AGC	p.G286S	FAM123C_uc010fmv.2_Missense_Mutation_p.G286S|FAM123C_uc010fms.1_Missense_Mutation_p.G286S|FAM123C_uc010fmt.1_Missense_Mutation_p.G286S|FAM123C_uc010fmu.1_Missense_Mutation_p.G286S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	286										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTTCCCAGGGGCCCTCTCCA	0.637		NaN											0	0	0	0.001855	0	13	40				
PDE11A	50940	broad.mit.edu	37	2	178936789	178936789	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:178936789C>G	uc002ulq.2	-	1	694	c.376G>C	c.(376-378)GCC>CCC	p.A126P	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	126					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGAGCGGGCAAAACTCTTC	0.612		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				0	0	0	0.000602	0	4	79				
TTN	7273	broad.mit.edu	37	2	179457374	179457374	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:179457374C>T	uc010zfg.1	-	250	51878	c.51654G>A	c.(51652-51654)TTG>TTA	p.L17218L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L10913L|TTN_uc010zfi.1_Silent_p.L10846L|TTN_uc010zfj.1_Silent_p.L10721L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18145							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAAGAATCAACTCAGGGG	0.373		NaN											0	0	0	0.001168	0	6	8				
ZNF804A	91752	broad.mit.edu	37	2	185803315	185803315	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:185803315G>A	uc002uph.2	+	4	3786	c.3192G>A	c.(3190-3192)AAG>AAA	p.K1064K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1064						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TGGCCAACAAGGTTAAATTTA	0.468		NaN											0	0	0	0.004007	0	16	31				
ESPNL	339768	broad.mit.edu	37	2	239013413	239013413	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:239013413G>C	uc002vxq.3	+	3	712	c.602G>C	c.(601-603)CGT>CCT	p.R201P		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	201										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGCACCTTCGTGCTCTCGAT	0.677		NaN											0	0	0	0.001984	0	7	7				
PASK	23178	broad.mit.edu	37	2	242046892	242046892	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:242046892C>T	uc002wao.1	-	17	3782	c.3690G>A	c.(3688-3690)GGG>GGA	p.G1230G	PASK_uc010zol.1_Silent_p.G1044G|PASK_uc010zom.1_Silent_p.G1195G|PASK_uc010fzl.1_Silent_p.G1237G|PASK_uc010zon.1_Silent_p.G1011G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1230	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTGCAGCAGCCCAGACACAA	0.542		NaN											0	0	0	0.004656	0	25	54				
HCK	3055	broad.mit.edu	37	20	30674544	30674544	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:30674544C>T	uc002wxh.2	+	9	1120	c.949C>T	c.(949-951)CTG>TTG	p.L317L	HCK_uc010gdy.2_Silent_p.L296L|HCK_uc002wxi.2_Silent_p.L295L	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	317	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCATGACAAGCTGGTCAAACT	0.582		NaN											0	0	0	0.01441	0	75	15				
GGT7	2686	broad.mit.edu	37	20	33442618	33442618	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:33442618G>A	uc002xay.2	-	9	1254	c.1211C>T	c.(1210-1212)GCT>GTT	p.A404V	GGT7_uc002xaz.1_Missense_Mutation_p.A421V	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	404	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CCAGTGAAGAGCCTGTTCTCG	0.567		NaN											0	0	0	0.00308	0	7	94				
SERINC3	10955	broad.mit.edu	37	20	43133481	43133481	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43133481T>C	uc002xme.2	-	7	969	c.835A>G	c.(835-837)ACT>GCT	p.T279A	SERINC3_uc002xmf.1_Missense_Mutation_p.T279A|SERINC3_uc010ggs.1_Missense_Mutation_p.T272A|SERINC3_uc010zwp.1_Missense_Mutation_p.T224A	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	279	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGGTACATAGTGTAGAGGGTG	0.478		NaN											0	0	0	0.00308	0	7	49				
MATN4	8785	broad.mit.edu	37	20	43929794	43929794	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43929794C>A	uc002xnn.2	-	5	1024	c.837G>T	c.(835-837)CGG>CGT	p.R279R	MATN4_uc002xno.2_Silent_p.R238R|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Silent_p.R227R|MATN4_uc002xnr.1_Silent_p.R279R	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	320	EGF-like 3.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TGCAGTGGCACCGTGGCCCAC	0.557		NaN									OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.49906e-05	0.00245	1.55075e-05	14	94				
CEBPB	1051	broad.mit.edu	37	20	48807640	48807640	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:48807640A>G	uc002xvi.1	+	1	265	c.70A>G	c.(70-72)ATG>GTG	p.M24V	CEBPB_uc002xvh.2_RNA	NM_005194	NP_005185	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein beta	24	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTTTAAATCCATGGAAGTGGC	0.537		NaN											0	0	0	0.009096	0	3	26				
LSM14B	149986	broad.mit.edu	37	20	60706547	60706547	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:60706547C>T	uc010gjy.1	+	7	1177	c.971C>T	c.(970-972)TCT>TTT	p.S324F	LSM14B_uc002ybv.2_Missense_Mutation_p.S298F|LSM14B_uc010zzz.1_Missense_Mutation_p.S244F	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	324	FFD box.				multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACATCTCTTCTGAACTCAAG	0.552		NaN											0	0	0	0.009096	0	3	39				
COL9A3	1299	broad.mit.edu	37	20	61458604	61458604	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:61458604C>T	uc002ydm.2	+	16	807	c.804C>T	c.(802-804)GGC>GGT	p.G268G		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	268	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GTGACCGAGGCGAGAGGGGCC	0.632		NaN											0	0	0	0.004482	0	8	56				
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:30380277C>A	uc002yms.2	-	4	617	c.530G>T	c.(529-531)GGA>GTA	p.G177V	RWDD2B_uc002ymt.2_Missense_Mutation_p.G148V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.G97V	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	177											0						GACTGTGCTTCCTGTGGTGGG	0.443		NaN											1	0	2.21704e-12	0.00278	2.41232e-12	23	64				
KRTAP10-2	386679	broad.mit.edu	37	21	45971299	45971299	+	Missense_Mutation	SNP	T	T	C	rs233240	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:45971299T>C	uc002zfi.1	-	1	90	c.43A>G	c.(43-45)AAC>GAC	p.N15D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	15						keratin filament		p.N15D(1)		large_intestine(1)	1						TGCCAGGAGTTGGTGCAGGCG	0.597		NaN											0	0	0	0.001168	0	5	88				
ITGB2	3689	broad.mit.edu	37	21	46314945	46314945	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:46314945C>T	uc002zgd.2	-	8	1068	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M	ITGB2_uc002zge.2_Missense_Mutation_p.V342M|ITGB2_uc002zgf.3_Missense_Mutation_p.V342M|ITGB2_uc011afl.1_Missense_Mutation_p.V264M|ITGB2_uc010gpw.2_Missense_Mutation_p.V285M|ITGB2_uc002zgg.2_Missense_Mutation_p.V342M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	342	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCTCCCCCACGGCTGACTTG	0.577		NaN											0	0	0	0.006122	0	18	26				
SNAP29	9342	broad.mit.edu	37	22	21224644	21224644	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:21224644G>C	uc011ahw.1	+	2	364	c.257G>C	c.(256-258)GGA>GCA	p.G86A		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	86	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGTCAGCGAGGAGTCCTGGAG	0.557		NaN											0	0	0	0.008871	0	20	102				
SEC14L3	266629	broad.mit.edu	37	22	30858094	30858094	+	Silent	SNP	C	C	T	rs146711095		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:30858094C>T	uc003ahy.2	-	9	839	c.750G>A	c.(748-750)GGG>GGA	p.G250G	SEC14L3_uc003ahz.2_Silent_p.G173G|SEC14L3_uc003aia.2_Silent_p.G191G|SEC14L3_uc003aib.2_Silent_p.G191G	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	250						integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	ATTTGGGGTTCCCATCTGGGT	0.483		NaN											0	0	0	0.000602	0	5	34				
BRPF1	7862	broad.mit.edu	37	3	9781381	9781381	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:9781381G>A	uc003bse.2	+	3	1697	c.1298G>A	c.(1297-1299)GGC>GAC	p.G433D	BRPF1_uc003bsf.2_Missense_Mutation_p.G433D|BRPF1_uc003bsg.2_Missense_Mutation_p.G433D|BRPF1_uc011ati.1_Missense_Mutation_p.G433D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	433					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GGCGCCAACGGCACCTCTTTC	0.567		NaN											0	0	0	0.000602	0	5	42				
PLCL2	23228	broad.mit.edu	37	3	17052785	17052785	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:17052785T>C	uc011awc.1	+	5	2028	c.1923T>C	c.(1921-1923)AAT>AAC	p.N641N	PLCL2_uc011awd.1_Silent_p.N523N	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						GTTCCTTTAATGAAGTGCTTG	0.413		NaN											0	0	0	0.00245	0	11	54				
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:41266097G>C	uc010hia.1	+	4	250	c.94G>C	c.(94-96)GAC>CAC	p.D32H	CTNNB1_uc003ckp.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32H|CTNNB1_uc011azf.1_Missense_Mutation_p.D25H|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	32			Missing (in hepatocellular carcinoma).|D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(110)|p.A5_A80del(63)|p.D32N(58)|p.D32G(53)|p.D32H(37)|p.D32V(20)|p.D32A(12)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.WQQQSYLD25?(5)|p.Q28_H134del(5)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32E(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.D32del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				0	0	0	0.001168	0	5	26		Valid		
NKTR	4820	broad.mit.edu	37	3	42678866	42678866	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42678866C>T	uc003clo.2	+	13	1817	c.1670C>T	c.(1669-1671)TCT>TTT	p.S557F	NKTR_uc003clm.1_Missense_Mutation_p.S304F|NKTR_uc003clp.2_Missense_Mutation_p.S304F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S447F|NKTR_uc003clr.1_Missense_Mutation_p.S304F|NKTR_uc003cls.2_Missense_Mutation_p.S257F	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	557	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGTTCCAAGTCTGGGCACCGA	0.413		NaN											0	0	0	0.013537	0	12	57				
CYP8B1	1582	broad.mit.edu	37	3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42917227G>A	uc003cmh.2	-	1	407	c.82C>T	c.(82-84)CGC>TGC	p.R28C	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R28C	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	28					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATGGCCTGCGTTGTCGGAGC	0.582		NaN											0	0	0	0.006214	0	9	64				
KIF15	56992	broad.mit.edu	37	3	44867652	44867652	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:44867652G>C	uc003cnx.3	+	21	2820	c.2671G>C	c.(2671-2673)GAA>CAA	p.E891Q	KIF15_uc010hiq.2_Missense_Mutation_p.E794Q|KIF15_uc010hir.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	891	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTTCAAAAAAGAAAATGAAAC	0.259		NaN											0	0	0	0.004656	0	26	42				
GNAT1	2779	broad.mit.edu	37	3	50231561	50231561	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:50231561G>C	uc003cym.2	+	6	731	c.615G>C	c.(613-615)AAG>AAC	p.K205N	GNAT1_uc003cyl.2_Missense_Mutation_p.K205N	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	205					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGGAGCGCAAGAAGTGGATCC	0.667		NaN											0	0	0	0.004007	0	14	16				
BAP1	8314	broad.mit.edu	37	3	52436687	52436687	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436687C>G	uc003ddx.2	-	16	2102	c.1987G>C	c.(1987-1989)GAT>CAT	p.D663H	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	663	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCTGGTCATCAATCTGTAGG	0.527		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.012213	0	32	3				
BAP1	8314	broad.mit.edu	37	3	52436810	52436810	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436810C>G	uc003ddx.2	-	15	2083	c.1968G>C	c.(1966-1968)AAG>AAC	p.K656N	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	656	Potential.|Interaction with BRCA1.			KRKKFK->AAAAAA: Does not affect nuclear localization.	monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACTTCTTCCTCTTCTCTACCT	0.557		NaN	N|Mis|F|S|O		uveal melanoma|breast|NSCLC								0	0	0	0.01441	0	52	13				
ADAMTS9	56999	broad.mit.edu	37	3	64666970	64666970	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:64666970C>T	uc003dmg.2	-	3	618	c.586G>A	c.(586-588)GAT>AAT	p.D196N	ADAMTS9_uc011bfo.1_Missense_Mutation_p.D196N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D25N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D196N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	196					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCTCTTCATCTTCTTGTTCA	0.468		NaN											0	0	0	0.014323	0	24	6				
IMPG2	50939	broad.mit.edu	37	3	100963595	100963595	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:100963595G>C	uc003duq.1	-	13	1783	c.1580C>G	c.(1579-1581)TCT>TGT	p.S527C	IMPG2_uc011bhe.1_Missense_Mutation_p.S390C	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	527	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGAATCAATAGAAAGAAAATC	0.343		NaN											0	0	0	0.000602	0	5	14				
MYLK	4638	broad.mit.edu	37	3	123383093	123383093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:123383093C>A	uc003ego.2	-	23	4126	c.3844G>T	c.(3844-3846)GAG>TAG	p.E1282*	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Nonsense_Mutation_p.E82*|MYLK_uc011bjw.1_Nonsense_Mutation_p.E1282*|MYLK_uc003egp.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egq.2_Nonsense_Mutation_p.E1282*|MYLK_uc003egr.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egs.2_Nonsense_Mutation_p.E1106*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1282	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCATGTGCTCGCTTTCCTGG	0.617		NaN											1	0	3.85864e-22	0.00278	4.28738e-22	25	123				
CDV3	55573	broad.mit.edu	37	3	133293897	133293897	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293897G>C	uc003epq.2	+	2	710	c.255G>C	c.(253-255)TGG>TGC	p.W85C	CDV3_uc003epp.3_Missense_Mutation_p.W85C|CDV3_uc003epr.2_5'UTR	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN	carnitine deficiency-associated gene expressed	85					cell proliferation	cytoplasm					0						AAGATGAATGGAAAGAATTGG	0.368		NaN											0	0	0	0.003954	0	23	46				
CDV3	55573	broad.mit.edu	37	3	133293922	133293922	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293922G>C	uc003epq.2	+	2	735	c.280G>C	c.(280-282)GAT>CAT	p.D94H	CDV3_uc003epp.3_Missense_Mutation_p.D94H|CDV3_uc003epr.2_5'UTR	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN	carnitine deficiency-associated gene expressed	94					cell proliferation	cytoplasm					0						AAAAGAGGTTGATTACAGCGG	0.358		NaN											0	0	0	0.008361	0	27	41				
HPS3	84343	broad.mit.edu	37	3	148847538	148847538	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:148847538T>C	uc003ewu.1	+	1	168	c.28T>C	c.(28-30)TTC>CTC	p.F10L	HPS3_uc003ewt.1_Missense_Mutation_p.F10L|HPS3_uc011bnq.1_Missense_Mutation_p.F10L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	10						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTGCACCCGTTCGGGTCGCA	0.721		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.006214	0	7	26				
PRKG2	5593	broad.mit.edu	37	4	82027076	82027076	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:82027076C>T	uc003hmh.2	-	15	1968	c.1954G>A	c.(1954-1956)GGG>AGG	p.G652R	PRKG2_uc011ccf.1_Missense_Mutation_p.G232R|PRKG2_uc011ccg.1_Missense_Mutation_p.G232R|PRKG2_uc011cch.1_Missense_Mutation_p.G623R	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	652	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TGGTCAACCCCAGAAAAGGGT	0.358		NaN											0	0	0	0.001168	0	5	15				
COQ2	27235	broad.mit.edu	37	4	84193256	84193256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:84193256C>T	uc003hog.2	-	4	659	c.651G>A	c.(649-651)TGG>TGA	p.W217*	COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Nonsense_Mutation_p.W217*	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	para-hydroxybenzoate-polyprenyltransferase,	204	Helical; (Potential).				glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			ovary(1)|central_nervous_system(1)	2		Hepatocellular(203;0.114)				CTAGTTGAGGCCAGTATGAAA	0.358		NaN											0	0	0	0.00308	0	6	7				
SPARCL1	8404	broad.mit.edu	37	4	88414989	88414989	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:88414989G>A	uc010ikm.2	-	5	1535	c.963C>T	c.(961-963)CTC>CTT	p.L321L	SPARCL1_uc011cdc.1_Silent_p.L196L|SPARCL1_uc003hqs.3_Silent_p.L321L|SPARCL1_uc011cdd.1_Silent_p.L196L|SPARCL1_uc003hqt.2_Silent_p.L321L	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	321					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TAGGTTCCATGAGCAGAGCCT	0.408		NaN											0	0	0	0.00278	0	22	101				
CTSO	1519	broad.mit.edu	37	4	156850813	156850813	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:156850813G>T	uc003ipg.2	-	6	768	c.719C>A	c.(718-720)CCT>CAT	p.P240H		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	240					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GACTACCAAAGGGCCAAAGGT	0.378		NaN											1	0	5.18039e-06	0.00308	5.41235e-06	8	16				
RXFP3	51289	broad.mit.edu	37	5	33937235	33937235	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:33937235G>A	uc003jic.1	+	1	747	c.390G>A	c.(388-390)CAG>CAA	p.Q130Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	130	Helical; Name=2; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CGGACTTTCAGTTTGTGCTCA	0.567		NaN											0	0	0	0.000602	0	4	89				
CWC27	10283	broad.mit.edu	37	5	64081347	64081347	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:64081347G>C	uc003jtn.1	+	5	655	c.436G>C	c.(436-438)GAA>CAA	p.E146Q	CWC27_uc003jtl.2_Missense_Mutation_p.E146Q|CWC27_uc003jtm.2_Missense_Mutation_p.E146Q|CWC27_uc010iwt.1_Missense_Mutation_p.E146Q	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	146	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						GCGACTGTCAGAAGTAGACAT	0.333		NaN											0	0	0	0.003163	0	12	20				
SLCO6A1	133482	broad.mit.edu	37	5	101735415	101735415	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:101735415C>A	uc003knn.2	-	10	1830	c.1658G>T	c.(1657-1659)GGA>GTA	p.G553V	SLCO6A1_uc003kno.2_Missense_Mutation_p.G300V|SLCO6A1_uc003knp.2_Missense_Mutation_p.G553V|SLCO6A1_uc003knq.2_Missense_Mutation_p.G491V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	553	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTATTAATCCTTCTTTAAT	0.323		NaN											1	0	0.00307968	0.00308	0.00313948	7	8				
CAMLG	819	broad.mit.edu	37	5	134086448	134086448	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:134086448G>C	uc003kzt.2	+	4	805	c.700_splice	c.e4-1	p.S234_splice	CAMLG_uc003kzu.2_Splice_Site_p.E80_splice	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand						defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCTCTACACAGAGTGAAAAGA	0.358		NaN											0	0	0	0.004482	0	8	16				
FGF18	8817	broad.mit.edu	37	5	170883752	170883752	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:170883752C>T	uc003mbk.2	+	5	1104	c.567C>T	c.(565-567)TTC>TTT	p.F189F		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	189					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGCCCTTCAAGTACACGA	0.682		NaN											0	0	0	0.01441	0	53	9				
HLA-B	3106	broad.mit.edu	37	6	31322894	31322894	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:31322894C>T	uc003nth.2	-	5	1056	c.1002G>A	c.(1000-1002)AGG>AGA	p.R334R	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.R213R|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	334	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CTGAACTCTTCCTCCTACACA	0.582		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				0	0	0	0.00245	0	14	102				
COL11A2	1302	broad.mit.edu	37	6	33136782	33136782	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:33136782G>C	uc003ocx.1	-	52	4030	c.3802C>G	c.(3802-3804)CCT>GCT	p.P1268A	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1182A|COL11A2_uc003ocz.1_Missense_Mutation_p.P1161A	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1268	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						AAACCAACAGGACCCTGATCC	0.592		NaN											0	0	0	0.00278	0	23	41				
PTCRA	171558	broad.mit.edu	37	6	42893345	42893345	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:42893345C>G	uc003osx.2	+	4	852	c.771C>G	c.(769-771)CTC>CTG	p.L257L	PTCRA_uc010jxy.2_Silent_p.L232L|PTCRA_uc010jxz.2_Silent_p.L150L	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha precursor	257	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)	2	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GATCTGCCCTCAGGGCTCCTT	0.632		NaN											0	0	0	0.008291	0	11	12				
HSP90AB1	3326	broad.mit.edu	37	6	44221102	44221102	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:44221102C>G	uc003oxa.1	+	11	2136	c.2052C>G	c.(2050-2052)ATC>ATG	p.I684M	HSP90AB1_uc011dvr.1_Missense_Mutation_p.I674M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I684M|HSP90AB1_uc011dvs.1_Missense_Mutation_p.I504M|HSP90AB1_uc003oxc.1_Missense_Mutation_p.I322M	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	684					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCGCATGATCAAGCTAGGTC	0.483		NaN											0	0	0	0.01441	0	62	197				
LAMA2	3908	broad.mit.edu	37	6	129687390	129687390	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:129687390C>G	uc003qbn.2	+	33	4849	c.4744C>G	c.(4744-4746)CTT>GTT	p.L1582V	LAMA2_uc003qbo.2_Missense_Mutation_p.L1582V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1582	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGGCCTTCTTCTCGGTGA	0.463		NaN											0	0	0	0.012319	0	18	19				
C6orf192	116843	broad.mit.edu	37	6	133105152	133105152	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:133105152C>A	uc003qdw.1	-	6	730	c.578G>T	c.(577-579)GGC>GTC	p.G193V	C6orf192_uc011eco.1_Missense_Mutation_p.G67V	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	193	Extracellular (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)		CACTTCATAGCCAAAGGATTG	0.383		NaN											1	0	2.27111e-07	0.013537	2.38467e-07	12	23				
CCDC28A	25901	broad.mit.edu	37	6	139113917	139113917	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:139113917G>A	uc003qie.2	+	6	957	c.802G>A	c.(802-804)GTT>ATT	p.V268I		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	268											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGCACAAGATGTTCCAAATAC	0.338		NaN											0	0	0	0.00308	0	6	26				
CCDC126	90693	broad.mit.edu	37	7	23682709	23682709	+	Missense_Mutation	SNP	C	C	T	rs146283363	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:23682709C>T	uc003swl.2	+	4	855	c.398C>T	c.(397-399)ACG>ATG	p.T133M	CCDC126_uc003swm.2_Missense_Mutation_p.T133M|CCDC126_uc003swn.2_Missense_Mutation_p.T133M	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126 precursor	133						extracellular region				ovary(1)|skin(1)	2						AATAAAAGAACGAATGTCTCG	0.428		NaN											0	0	0	0.00308	0	8	19				
TNS3	64759	broad.mit.edu	37	7	47408747	47408747	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:47408747G>A	uc003tnv.2	-	17	1863	c.1496C>T	c.(1495-1497)TCG>TTG	p.S499L	TNS3_uc003tnw.2_Missense_Mutation_p.S499L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	499						focal adhesion	protein binding			ovary(4)	4						AGGCCCTTCCGAGGAGGACAG	0.592		NaN											0	0	0	0.004482	0	6	39				
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:53104067C>T	uc003tpz.2	+	1	719	c.703C>T	c.(703-705)CCT>TCT	p.P235S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	235											0						CAGGCCAGGGCCTCTGAAGCC	0.642		NaN											0	0	0	0.003163	0	14	56				
PSPH	5723	broad.mit.edu	37	7	56088853	56088853	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:56088853C>A	uc003trg.2	-	3	416	c.53G>T	c.(52-54)TGT>TTT	p.C18F	PSPH_uc003trh.2_Missense_Mutation_p.C18F|PSPH_uc003tri.2_Missense_Mutation_p.C18F|PSPH_uc003trj.2_Missense_Mutation_p.C47F	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	18					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCAAAACACACAGCATC	0.438		NaN											1	0	0.000219431	0.00245	0.000225885	15	76				
MLXIPL	51085	broad.mit.edu	37	7	73011529	73011529	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:73011529G>C	uc003tyn.1	-	9	1634	c.1586C>G	c.(1585-1587)ACA>AGA	p.T529R	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyl.1_Missense_Mutation_p.T529R|MLXIPL_uc003tym.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.T436R|MLXIPL_uc003tyq.1_Missense_Mutation_p.T271R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	529					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCAGCTGTGTGAGGCAGGG	0.672		NaN											0	0	0	0.009096	0	4	14				
ZNF804B	219578	broad.mit.edu	37	7	88966018	88966018	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:88966018C>T	uc011khi.1	+	4	4260	c.3722C>T	c.(3721-3723)GCA>GTA	p.A1241V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1241						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTCACAGGCACATTTCAGT	0.468		NaN								HNSCC(36;0.09)			0	0	0	0.008871	0	21	63				
ANKIB1	54467	broad.mit.edu	37	7	91981821	91981821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981821G>A	uc003ulw.2	+	9	1638	c.1262G>A	c.(1261-1263)TGG>TAG	p.W421*		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	421	IBR-type; degenerate.						protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCATTAAATGGTGTCCTACT	0.383		NaN											0	0	0	0.004482	0	7	40				
ANKIB1	54467	broad.mit.edu	37	7	91981845	91981845	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981845G>C	uc003ulw.2	+	9	1662	c.1286G>C	c.(1285-1287)AGA>ACA	p.R429T		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	429	IBR-type; degenerate.						protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTGTGACAGAGCAGTAAGA	0.398		NaN											0	0	0	0.00245	0	14	44				
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:117375046C>T	uc003vjf.2	-	16	3889	c.3797G>A	c.(3796-3798)CGC>CAC	p.R1266H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.493		NaN											0	0	0	0.004482	0	9	30				
XRCC2	7516	broad.mit.edu	37	7	152373252	152373252	+	Splice_Site	SNP	C	C	G	rs3218384	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:152373252C>G	uc003wld.2	-	1	1	c.-85_splice	c.e1-1			NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2						meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CCAGTCAAACCCGCCCACCCG	0.701		NaN						Homologous_recombination					0	0	0	0.004672	0	3	28				
DEFA5	1670	broad.mit.edu	37	8	6912954	6912954	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:6912954C>T	uc003wra.1	-	2	324	c.284G>A	c.(283-285)TGA>TAA	p.*95*		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTAGGAAGCTCAGCGACAGCA	0.483		NaN											0	0	0	0.004482	0	9	9				
FGFR1	2260	broad.mit.edu	37	8	38275486	38275486	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:38275486C>G	uc003xlp.2	-	12	2396	c.1454G>C	c.(1453-1455)GGA>GCA	p.G485A	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.G483A|FGFR1_uc011lbp.1_Missense_Mutation_p.G396A|FGFR1_uc011lbq.1_Missense_Mutation_p.G394A|FGFR1_uc010lwk.2_Missense_Mutation_p.G475A	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	485	ATP.|Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GCAGCCCTCTCCCAGGGGTTT	0.552		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	0.010771	0	46	25				
MSC	9242	broad.mit.edu	37	8	72756080	72756080	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:72756080C>A	uc003xyx.1	-	1	652	c.334G>T	c.(334-336)GCC>TCC	p.A112S	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	112	Basic motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGGGCGTTGGCCGCGTTCCGC	0.701		NaN									OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	9.70103e-10	0.008291	1.0394e-09	11	25				
HNF4G	3174	broad.mit.edu	37	8	76468215	76468215	+	Splice_Site	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:76468215A>T	uc003yaq.2	+	7	775	c.505_splice	c.e7-2	p.V169_splice	HNF4G_uc003yar.2_Splice_Site_p.V206_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTTCATTAAGGTGGCACTG	0.333		NaN											0	0	0	0.000602	0	5	8				
IMPA1	3612	broad.mit.edu	37	8	82592977	82592977	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:82592977C>A	uc003ych.2	-	3	232	c.105G>T	c.(103-105)CTG>CTT	p.L35L	IMPA1_uc011lfq.1_Silent_p.L94L|IMPA1_uc011lfr.1_Silent_p.L35L	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	35					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	GAGAACTTTTCAGCATAACAT	0.299		NaN											1	0	5.16669e-11	0.010729	5.56412e-11	12	63				
DCAF10	79269	broad.mit.edu	37	9	37842171	37842171	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:37842171T>C	uc004aao.2	+	3	813	c.739T>C	c.(739-741)TGC>CGC	p.C247R	DCAF10_uc010mlz.2_Missense_Mutation_p.C74R	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	247	WD 2.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						CACCAAAGTATGCACTTTACA	0.368		NaN											0	0	0	0.008871	0	19	26				
ANXA1	301	broad.mit.edu	37	9	75777739	75777739	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:75777739T>C	uc004ajf.1	+	7	591	c.517T>C	c.(517-519)TCT>CCT	p.S173P	ANXA1_uc004aje.1_Missense_Mutation_p.S173P|ANXA1_uc004ajg.1_Missense_Mutation_p.S173P	NM_000700	NP_000691	P04083	ANXA1_HUMAN	annexin I	173	Annexin 2.				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)	2		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CTCAGACACATCTGGAGATTT	0.308		NaN											0	0	0	0.004672	0	3	1				
SCAI	286205	broad.mit.edu	37	9	127781102	127781102	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:127781102G>A	uc004bpe.2	-	9	918	c.837C>T	c.(835-837)CTC>CTT	p.L279L	SCAI_uc004bpd.2_Silent_p.L302L|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	279					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						TACCAATAATGAGTGCGTCAG	0.378		NaN											0	0	0	0.00278	0	22	31				
PRRX2	51450	broad.mit.edu	37	9	132481528	132481528	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:132481528G>A	uc004byh.2	+	2	505	c.278G>A	c.(277-279)GGG>GAG	p.G93E		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	93						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				CCCAGCCCGGGGCGCGGTAGC	0.672		NaN											0	0	0	0.00308	0	8	4				
PNPLA7	375775	broad.mit.edu	37	9	140379137	140379137	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140379137G>A	uc004cnf.2	-	20	2511	c.2174C>T	c.(2173-2175)CCG>CTG	p.P725L	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_5'UTR|PNPLA7_uc004cne.1_5'UTR|PNPLA7_uc011mfa.1_Missense_Mutation_p.P133L|PNPLA7_uc010ncj.1_Missense_Mutation_p.P750L	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	725					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTTGACAGCCGGGTTCCCCAA	0.662		NaN											0	0	0	0.004672	0	3	11				
ZMYND19	116225	broad.mit.edu	37	9	140481554	140481554	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140481554C>T	uc004cno.1	-	4	446	c.224G>A	c.(223-225)CGG>CAG	p.R75Q		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	75						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCCGGTGCCGCTCCCTAGA	0.622		NaN											0	0	0	0.008291	0	10	55				
IL3RA	3563	broad.mit.edu	37	X	1471230	1471230	+	Nonsense_Mutation	SNP	C	C	G	rs147935693		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:1471230C>G	uc004cps.2	+	6	796	c.447C>G	c.(445-447)TAC>TAG	p.Y149*	IL3RA_uc011mhd.1_Nonsense_Mutation_p.Y71*	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	149	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCAACAGTACGAGTGTCTTC	0.602		NaN											0	0	0	0.01441	0	54	524				
DMD	1756	broad.mit.edu	37	X	32503148	32503148	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:32503148C>T	uc004dda.1	-	21	2935	c.2691G>A	c.(2689-2691)CTG>CTA	p.L897L	DMD_uc004dcz.2_Silent_p.L774L|DMD_uc004dcy.1_Silent_p.L893L|DMD_uc004ddb.1_Silent_p.L889L|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	897	Spectrin 5.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTTTCAGGGCTATGC	0.413		NaN											0	0	0	0.00308	0	7	31				
WAS	7454	broad.mit.edu	37	X	48547079	48547079	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:48547079G>C	uc004dkm.3	+	10	1019	c.962G>C	c.(961-963)CGA>CCA	p.R321P		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	321					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				CCGCCATCTCGAGGAGGGAAC	0.522		NaN	Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				0	0	0	0.010729	0	9	53				
KDM5C	8242	broad.mit.edu	37	X	53247478	53247478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:53247478C>T	uc004drz.2	-	3	864	c.331G>A	c.(331-333)GAC>AAC	p.D111N	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.D111N	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	111	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTGTAGAGGTCCAAGATCCGC	0.488		NaN	N|F|S		clear cell renal carcinoma								0	0	0	0.006214	0	10	50				
WNK3	65267	broad.mit.edu	37	X	54276034	54276034	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:54276034C>T	uc004dtd.1	-	17	3186	c.2747G>A	c.(2746-2748)CGG>CAG	p.R916Q	WNK3_uc004dtc.1_Missense_Mutation_p.R916Q	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	916					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CAATGTGTCCCGTGATATTTC	0.398		NaN											0	0	0	0.006214	0	8	78				
MTMR8	55613	broad.mit.edu	37	X	63548760	63548760	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:63548760G>A	uc004dvs.2	-	12	1441	c.1373C>T	c.(1372-1374)TCT>TTT	p.S458F	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	458	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						AGGCCACACAGAATGTGTTTT	0.403		NaN											0	0	0	0.000602	0	5	5				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:73811938G>C	uc004ebu.2	-	5	1502	c.1212C>G	c.(1210-1212)ACC>ACG	p.T404T	RLIM_uc004ebw.2_Silent_p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GCCTTAACATGGTCTGAATTG	0.413		NaN											0	0	0	0.000602	0	5	65				
TGIF2LX	90316	broad.mit.edu	37	X	89177629	89177629	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:89177629A>T	uc004efe.2	+	2	594	c.545A>T	c.(544-546)AAG>ATG	p.K182M		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCTAGCCAGAAGCTCACCGGA	0.562		NaN											0	0	0	0.001984	0	7	22				
GPRASP2	114928	broad.mit.edu	37	X	101970046	101970046	+	Silent	SNP	T	T	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:101970046T>G	uc004ejk.2	+	4	1583	c.249T>G	c.(247-249)GGT>GGG	p.G83G	GPRASP2_uc004ejl.2_Silent_p.G83G|GPRASP2_uc004ejm.2_Silent_p.G83G|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	83						cytoplasm	protein binding			ovary(1)	1						TAATGGGTGGTGCAAGACCCA	0.562		NaN											0	0	0	0.009096	0	4	58				
IGSF1	3547	broad.mit.edu	37	X	130409595	130409595	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:130409595C>A	uc004ewd.2	-	16	3279	c.3041G>T	c.(3040-3042)TGG>TTG	p.W1014L	IGSF1_uc004ewe.3_Missense_Mutation_p.W1008L|IGSF1_uc004ewf.2_Missense_Mutation_p.W994L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1014	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GGTGGATCCCCAGAGCTGCAT	0.537		NaN											1	0	4.68919e-08	0.008291	4.99863e-08	11	64				
GPR112	139378	broad.mit.edu	37	X	135441568	135441568	+	Silent	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:135441568A>G	uc004ezu.1	+	11	7389	c.7098A>G	c.(7096-7098)CAA>CAG	p.Q2366Q	GPR112_uc010nsb.1_Silent_p.Q2161Q|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2366	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CACAAGATCAATTGACGTTAT	0.343		NaN											0	0	0	0.004672	0	3	41				
CTAG2	30848	broad.mit.edu	37	X	153880682	153880682	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880682C>G	uc004fmi.1	-	2	546	c.493G>C	c.(493-495)GCT>CCT	p.A165P	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	165						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATCTCTAGCTTTCTGCCCC	0.632		NaN											0	0	0	0.009718	0	43	10				
CTAG2	30848	broad.mit.edu	37	X	153880694	153880694	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880694C>T	uc004fmi.1	-	2	534	c.481G>A	c.(481-483)GAG>AAG	p.E161K	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	161						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTGCCCCTCCGGGGAGGCG	0.632		NaN											0	0	0	0.010771	0	45	10				
GLTPD1	80772	broad.mit.edu	37	1	1262843	1262843	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:1262843G>A	uc001aeo.2	+	3	760	c.345G>A	c.(343-345)CTG>CTA	p.L115L	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	115						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGCGCCCTGCACTGGCTGC	0.726		NaN											0	0	0	0.004672	0	3	10				
H6PD	9563	broad.mit.edu	37	1	9323690	9323690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:9323690G>A	uc001apt.2	+	5	1411	c.1138G>A	c.(1138-1140)GTG>ATG	p.V380M		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	380	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGCCTGCTGTGTGCAGAGCGA	0.642		NaN											0	0	0	0.001984	0	7	74				
MRTO4	51154	broad.mit.edu	37	1	19584361	19584361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:19584361C>T	uc001bbs.2	+	6	631	c.376C>T	c.(376-378)CGA>TGA	p.R126*		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	126					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTACGCCCGAGCTGGTAA	0.587		NaN											0	0	0	0.007413	0	19	99				
IL28RA	163702	broad.mit.edu	37	1	24483775	24483775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:24483775G>A	uc001bis.2	-	7	1421	c.1408C>T	c.(1408-1410)CAG>TAG	p.Q470*	IL28RA_uc001bir.2_Nonsense_Mutation_p.Q441*|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Nonsense_Mutation_p.Q386*	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	470	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GTCAGTGTCTGAAGAGAAACT	0.612		NaN											0	0	0	0.013537	0	13	76				
PPP1R8	5511	broad.mit.edu	37	1	28176864	28176864	+	Silent	SNP	C	C	G	rs144281839	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:28176864C>G	uc001bov.1	+	7	1017	c.963C>G	c.(961-963)GTC>GTG	p.V321V	PPP1R8_uc001bow.1_Silent_p.V179V|PPP1R8_uc001box.1_Silent_p.V97V|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	321	Interaction with EED.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTGCAGTCTATAACCCTG	0.488		NaN											0	0	0	0.004482	0	9	85				
TINAGL1	64129	broad.mit.edu	37	1	32051353	32051353	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32051353G>A	uc001bta.2	+	10	1220	c.1094_splice	c.e10-1	p.A365_splice	TINAGL1_uc001bsz.2_Splice_Site_p.A220_splice|TINAGL1_uc010ogj.1_Splice_Site_p.A334_splice|TINAGL1_uc010ogk.1_Splice_Site_p.A365_splice	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCTGCCCACAGCCCTCATGGA	0.597		NaN											0	0	0	0.000602	0	5	18				
KHDRBS1	10657	broad.mit.edu	37	1	32503563	32503563	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32503563C>G	uc001bub.2	+	6	1139	c.1033C>G	c.(1033-1035)CCA>GCA	p.P345A	KHDRBS1_uc001bua.1_Missense_Mutation_p.P306A|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	345	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCTCCAGCACCAAGAGCACG	0.542		NaN											0	0	0	0.006214	0	10	108				
FAM167B	84734	broad.mit.edu	37	1	32713099	32713099	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32713099C>T	uc001buw.2	+	1	282	c.77C>T	c.(76-78)TCT>TTT	p.S26F		NM_032648	NP_116037	Q9BTA0	F167B_HUMAN	hypothetical protein LOC84734	26										ovary(1)	1						AGCCTGGACTCTGTGAAGGCA	0.622		NaN											0	0	0	0.003163	0	15	30				
EIF2C4	192670	broad.mit.edu	37	1	36301437	36301437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301437G>C	uc001bzj.1	+	13	1757	c.1567G>C	c.(1567-1569)GAG>CAG	p.E523Q		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	523	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ttttGTAGCGGAGGTGAAACG	0.363		NaN											0	0	0	0.001168	0	6	38				
EIF2C4	192670	broad.mit.edu	37	1	36301505	36301505	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301505G>A	uc001bzj.1	+	13	1825	c.1635G>A	c.(1633-1635)GTG>GTA	p.V545V		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	545	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATGTAGTGAAGACCTCAC	0.388		NaN											0	0	0	0.008291	0	9	67				
KIAA0754	643314	broad.mit.edu	37	1	39876004	39876004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:39876004G>T	uc009vvt.1	+	1	829	c.67G>T	c.(67-69)GAG>TAG	p.E23*	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGGAGAGGAGGAGGATGG	0.463		NaN											1	0	3.09899e-07	0.004482	3.47121e-07	7	35				
MOBKL2C	148932	broad.mit.edu	37	1	47078790	47078790	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:47078790G>C	uc001cqf.3	-	2	435	c.204C>G	c.(202-204)TTC>TTG	p.F68L	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.F120L	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	68							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGATGCGGTTGAAGAAGTCCA	0.652		NaN											0	0	0	0.001984	0	7	27				
NFIA	4774	broad.mit.edu	37	1	61869892	61869892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:61869892G>C	uc001czw.2	+	8	1676	c.1192G>C	c.(1192-1194)GAA>CAA	p.E398Q	NFIA_uc001czy.2_Missense_Mutation_p.E390Q|NFIA_uc010oos.1_Missense_Mutation_p.E443Q|NFIA_uc001czv.2_Missense_Mutation_p.E398Q|NFIA_uc001czx.2_Missense_Mutation_p.E46Q|NFIA_uc009wae.2_5'Flank	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	398					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						GACGCTGAAAGAATTTGTCCA	0.493		NaN											0	0	0	0.000602	0	5	48				
DNASE2B	58511	broad.mit.edu	37	1	84880418	84880418	+	Missense_Mutation	SNP	G	G	A	rs146223730		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:84880418G>A	uc001djt.1	+	6	986	c.953G>A	c.(952-954)CGC>CAC	p.R318H	DNASE2B_uc001dju.1_Missense_Mutation_p.R110H|DNASE2B_uc009wch.1_Missense_Mutation_p.R110H	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	318					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACCAAAAATCGCTGGACATGT	0.388		NaN						Direct_reversal_of_damage					0	0	0	0.008291	0	11	34				
SLC25A24	29957	broad.mit.edu	37	1	108679440	108679440	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:108679440T>C	uc001dvn.3	-	10	1483	c.1269A>G	c.(1267-1269)CCA>CCG	p.P423P	SLC25A24_uc001dvm.2_Silent_p.P404P	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	423	Mitochondrial matrix (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TATTCAGCTGTGGGGAACCTT	0.373		NaN											0	0	0	0.004482	0	9	36				
DDX20	11218	broad.mit.edu	37	1	112308496	112308496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:112308496C>G	uc001ebs.2	+	11	1807	c.1450C>G	c.(1450-1452)CAA>GAA	p.Q484E	DDX20_uc010owf.1_Missense_Mutation_p.Q246E|DDX20_uc001ebt.2_Missense_Mutation_p.Q92E	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	484	SMN interacting.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACCCTTCAAATTCAGAA	0.368		NaN											0	0	0	0.006214	0	10	78				
BCL9	607	broad.mit.edu	37	1	147090920	147090920	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:147090920G>A	uc001epq.2	+	8	1699	c.959G>A	c.(958-960)GGG>GAG	p.G320E	BCL9_uc010ozr.1_Missense_Mutation_p.G246E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	320	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GTCTCCCAGGGGAGCAATAGC	0.607		NaN	T	IGH@|IGL@	B-ALL								0	0	0	0.001984	0	7	93				
SELENBP1	8991	broad.mit.edu	37	1	151337485	151337485	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:151337485C>G	uc001exx.2	-	11	1220	c.1173G>C	c.(1171-1173)CAG>CAC	p.Q391H	SELENBP1_uc010pcy.1_Missense_Mutation_p.Q433H|SELENBP1_uc001exy.2_Missense_Mutation_p.Q288H|SELENBP1_uc001exz.2_Missense_Mutation_p.Q288H|SELENBP1_uc010pcz.1_Missense_Mutation_p.Q329H|SELENBP1_uc009wms.2_Missense_Mutation_p.Q227H|SELENBP1_uc009wmt.2_Missense_Mutation_p.Q288H|SELENBP1_uc001eya.2_Missense_Mutation_p.Q327H|SELENBP1_uc009wmu.2_Missense_Mutation_p.A260P	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	391					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCTGAGCTGGATCATCT	0.567		NaN											0	0	0	0.004672	0	3	7				
THBS3	7059	broad.mit.edu	37	1	155170384	155170384	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:155170384G>T	uc001fix.2	-	14	1589	c.1566C>A	c.(1564-1566)TTC>TTA	p.F522L	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.F513L|THBS3_uc001fiz.2_Missense_Mutation_p.F485L|THBS3_uc001fiy.2_Missense_Mutation_p.F51L|THBS3_uc010pfu.1_Missense_Mutation_p.F402L|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	522	TSP type-3 2.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTTGGGGAACAGCCGGC	0.517		NaN											1	0	1.58986e-06	0.008291	1.76115e-06	10	76				
FCRL5	83416	broad.mit.edu	37	1	157514143	157514143	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157514143C>G	uc001fqu.2	-	5	911	c.753G>C	c.(751-753)TGG>TGC	p.W251C	FCRL5_uc009wsm.2_Missense_Mutation_p.W251C|FCRL5_uc010phv.1_Missense_Mutation_p.W251C|FCRL5_uc010phw.1_Missense_Mutation_p.W166C|FCRL5_uc001fqv.1_Missense_Mutation_p.W251C|FCRL5_uc010phx.1_Missense_Mutation_p.W2C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	251	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AATCTTTACTCCACATGGCAG	0.512		NaN											0	0	0	0.001855	0	13	171				
FCRL3	115352	broad.mit.edu	37	1	157667580	157667580	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157667580C>G	uc001frb.2	-	5	720	c.428G>C	c.(427-429)AGT>ACT	p.S143T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S143T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.S143T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	143	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TAAATTATAACTATTAGGAAG	0.348		NaN											0	0	0	0.003163	0	15	114				
KIRREL	55243	broad.mit.edu	37	1	158059372	158059372	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:158059372G>T	uc001frn.3	+	9	1529	c.1125G>T	c.(1123-1125)GTG>GTT	p.V375V	KIRREL_uc010pib.1_Silent_p.V275V|KIRREL_uc009wsq.2_Silent_p.V211V|KIRREL_uc001fro.3_Silent_p.V189V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	375	Extracellular (Potential).|Ig-like C2-type 4.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GGGCCATCGTGCCTCGAATCG	0.637		NaN											1	0	1.56452e-12	0.007413	1.84522e-12	18	36				
CADM3	57863	broad.mit.edu	37	1	159166681	159166681	+	Silent	SNP	C	C	G	rs149370954	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159166681C>G	uc001ftl.2	+	7	925	c.783C>G	c.(781-783)GTC>GTG	p.V261V	CADM3_uc009wsy.1_Silent_p.V215V|CADM3_uc001ftk.2_Silent_p.V295V|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	261	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GCCTCGACAGCCCCCAGCAGT	0.517		NaN											0	0	0	0.000602	0	5	53				
SLAMF9	89886	broad.mit.edu	37	1	159923348	159923348	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159923348C>T	uc001fus.2	-	2	259	c.142G>A	c.(142-144)GAA>AAA	p.E48K	SLAMF9_uc009wtd.2_Missense_Mutation_p.E48K|SLAMF9_uc001fut.2_Missense_Mutation_p.E48K	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	48	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAACCTCTTCATCTGGTGGT	0.532		NaN											0	0	0	0.008291	0	9	83				
PEX19	5824	broad.mit.edu	37	1	160253381	160253381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160253381G>A	uc001fvs.2	-	2	146	c.119C>T	c.(118-120)TCT>TTT	p.S40F	DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	40	Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGTGGTAGAAGGGGGTGC	0.547		NaN											0	0	0	0.013537	0	11	40				
VANGL2	57216	broad.mit.edu	37	1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160395046C>T	uc001fwb.1	+	9	1743	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	VANGL2_uc001fwc.1_Missense_Mutation_p.R482C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	482	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532		NaN											0	0	0	0.009096	0	4	59				
LY9	4063	broad.mit.edu	37	1	160769632	160769632	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160769632G>A	uc001fwu.2	+	2	264	c.214G>A	c.(214-216)GAC>AAC	p.D72N	LY9_uc001fwt.2_Missense_Mutation_p.D72N|LY9_uc010pjs.1_Missense_Mutation_p.D72N|LY9_uc001fwv.2_Missense_Mutation_p.D72N|LY9_uc001fww.2_Missense_Mutation_p.D72N|LY9_uc001fwx.2_Missense_Mutation_p.D72N|LY9_uc001fwy.1_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	72	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTCAGTAGACACAGAGAT	0.493		NaN											0	0	0	0.006214	0	10	77				
ATF6	22926	broad.mit.edu	37	1	161928235	161928235	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:161928235G>A	uc001gbr.2	+	16	1872	c.1805_splice	c.e16-1	p.E602_splice	ATF6_uc001gbs.2_5'Flank	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6						positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CCTGTCTGCAGAGAATGTGAT	0.433		NaN											0	0	0	0.001984	0	7	90				
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:171073096G>A	uc001ghi.2	+	3	414	c.303G>A	c.(301-303)CTG>CTA	p.L101L	FMO3_uc001ghh.2_Silent_p.L101L|FMO3_uc010pmb.1_Silent_p.L81L|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	101					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCTCCTGAAGTACATAC	0.378		NaN											0	0	0	0.010729	0	12	55				
TNN	63923	broad.mit.edu	37	1	175052985	175052985	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:175052985T>A	uc001gkl.1	+	5	1261	c.1148T>A	c.(1147-1149)CTG>CAG	p.L383Q	TNN_uc010pmx.1_Missense_Mutation_p.L383Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	383	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACTACAAGCTGCGATATGGC	0.552		NaN											0	0	0	0.001168	0	6	80				
ASTN1	460	broad.mit.edu	37	1	177133537	177133537	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:177133537G>A	uc001glc.2	-	1	488	c.276C>T	c.(274-276)TTC>TTT	p.F92F	ASTN1_uc001glb.1_Silent_p.F92F|ASTN1_uc001gld.1_Silent_p.F92F|ASTN1_uc009wwx.1_Silent_p.F92F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	92					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CACCCAGCACGAAGTAGGGCA	0.692		NaN											0	0	0	0.009096	0	4	15				
CACNA1E	777	broad.mit.edu	37	1	181754895	181754895	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:181754895A>T	uc001gow.2	+	43	5891	c.5726A>T	c.(5725-5727)CAG>CTG	p.Q1909L	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1797L|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1135L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1909	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTCTGCCTCAGGAGATCATT	0.507		NaN											0	0	0	0.008871	0	20	248				
C1orf25	81627	broad.mit.edu	37	1	185113039	185113039	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:185113039G>C	uc001grf.3	-	6	1050	c.778C>G	c.(778-780)CGG>GGG	p.R260G	C1orf25_uc010pon.1_Missense_Mutation_p.R104G	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	260						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TTATCTTACCGATTTAGTTTC	0.303		NaN											0	0	0	0.00308	0	8	34				
HMCN1	83872	broad.mit.edu	37	1	186045614	186045614	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:186045614G>T	uc001grq.1	+	54	8574	c.8345G>T	c.(8344-8346)AGG>ATG	p.R2782M		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2782	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATACTGGCAGGAATGGTGAA	0.413		NaN											1	0	1.23904e-05	0.000602	1.34649e-05	5	85				
CHIT1	1118	broad.mit.edu	37	1	203188877	203188877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:203188877G>T	uc001gzn.2	-	8	926	c.830C>A	c.(829-831)TCA>TAA	p.S277*	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.S68*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.S268*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	277					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						TCTGGTGTCTGATGAGGAGGC	0.597		NaN											1	0	0.000673444	0.008291	0.00070694	11	54				
CNTN2	6900	broad.mit.edu	37	1	205027351	205027351	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205027351C>T	uc001hbr.2	+	4	527	c.258C>T	c.(256-258)TCC>TCT	p.S86S	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'UTR|CNTN2_uc001hbs.2_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	86	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGGTTCCCGTCACCAGC	0.632		NaN											0	0	0	0.009096	0	4	25				
NUAK2	81788	broad.mit.edu	37	1	205290642	205290642	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205290642C>A	uc001hce.2	-	1	242	c.115G>T	c.(115-117)GCG>TCG	p.A39S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	39					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTTCACCGCCTGCTTCTTC	0.667		NaN											1	0	0.00909568	0.009096	0.00935222	4	19				
PIGR	5284	broad.mit.edu	37	1	207110743	207110743	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207110743C>G	uc001hez.2	-	4	926	c.742G>C	c.(742-744)GAC>CAC	p.D248H	PIGR_uc009xbz.2_Missense_Mutation_p.D248H	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	248	Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCCCTCAGGTCTTCATAAACC	0.547		NaN											0	0	0	0.010729	0	12	68				
C1orf116	79098	broad.mit.edu	37	1	207200869	207200869	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207200869C>A	uc001hfd.2	-	2	334	c.75G>T	c.(73-75)ATG>ATT	p.M25I	C1orf116_uc009xcb.1_Intron	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	25						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					TGCTGCTCATCATGCTGTCAC	0.542		NaN											1	0	3.59834e-05	0.001168	3.88931e-05	6	51				
IRF6	3664	broad.mit.edu	37	1	209974736	209974736	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:209974736A>T	uc001hhq.1	-	3	286	c.23T>A	c.(22-24)GTC>GAC	p.V8D	IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.V8D	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	8	IRF tryptophan pentad repeat.				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTAGCCGGACTCTGCGGGG	0.597		NaN								HNSCC(57;0.16)			0	0	0	0.003163	0	16	56				
PROX1	5629	broad.mit.edu	37	1	214185050	214185050	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:214185050G>A	uc001hkh.2	+	4	2292	c.2020G>A	c.(2020-2022)GAC>AAC	p.D674N		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	674	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAAAGCAAATGACTTTGAGGT	0.368		NaN											0	0	0	0.010771	0	46	60				
TP53BP2	7159	broad.mit.edu	37	1	223994610	223994610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:223994610G>A	uc010pvb.1	-	5	704	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.Q9*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	132	Gln-rich.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCCATTTCCTGAAGTTCAGCA	0.368		NaN											0	0	0	0.003755	0	36	76				
WDR26	80232	broad.mit.edu	37	1	224599169	224599169	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:224599169C>G	uc001hop.3	-	7	1043	c.677G>C	c.(676-678)GGA>GCA	p.G226A	WDR26_uc001hoq.3_Missense_Mutation_p.G210A|WDR26_uc010pvh.1_5'UTR	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	373	WD 1.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		ATCTTTTGATCCTGTTGCTAG	0.368		NaN											0	0	0	0.000602	0	5	68				
PCNXL2	80003	broad.mit.edu	37	1	233120095	233120095	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:233120095G>T	uc001hvl.2	-	34	6604	c.6369C>A	c.(6367-6369)GGC>GGA	p.G2123G	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2123						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTCGTCCAGGCCCATGTCCT	0.667		NaN											1	0	0.00024832	0.009096	0.000263429	4	25				
FH	2271	broad.mit.edu	37	1	241665791	241665791	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241665791G>T	uc001hyx.2	-	8	1220	c.1188C>A	c.(1186-1188)GTC>GTA	p.V396V		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	396					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGCTGCCTCCGACAGTGACAG	0.413		NaN	Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				1	0	2.32078e-09	0.003163	2.67424e-09	15	60				
CHML	1122	broad.mit.edu	37	1	241798263	241798263	+	Missense_Mutation	SNP	C	C	T	rs148967774		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241798263C>T	uc001hzd.2	-	1	970	c.806G>A	c.(805-807)CGG>CAG	p.R269Q	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	269					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.R269R(1)		ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTTCCTTCCCGAAATGCAAG	0.353		NaN											0	0	0	0.00245	0	15	68				
ECHDC3	79746	broad.mit.edu	37	10	11789413	11789413	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:11789413A>C	uc001ikw.3	+	2	456	c.236A>C	c.(235-237)CAA>CCA	p.Q79P	ECHDC3_uc009xix.2_5'UTR	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl Coenzyme A hydratase domain containing 3	79						mitochondrion	catalytic activity				0						AAGTCTCTCCAAAGTGACATT	0.438		NaN											0	0	0	0.014323	0	17	99				
ANKRD26	22852	broad.mit.edu	37	10	27389109	27389109	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:27389109C>G	uc001ith.2	-	1	319	c.147G>C	c.(145-147)AAG>AAC	p.K49N	ANKRD26_uc009xku.1_Missense_Mutation_p.K49N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	49	ANK 1.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CTTTGTGGATCTTGCCGAGAT	0.622		NaN											0	0	0	0.013726	0	32	76				
ZNF37A	7587	broad.mit.edu	37	10	38407718	38407718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:38407718G>C	uc001izk.2	+	8	2458	c.1639G>C	c.(1639-1641)GGG>CGG	p.G547R	ZNF37A_uc001izl.2_Missense_Mutation_p.G547R|ZNF37A_uc001izm.2_Missense_Mutation_p.G547R	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	547						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						AATACACTTGGGGAGAAACCC	0.363		NaN											0	0	0	0.004482	0	9	38				
CHAT	1103	broad.mit.edu	37	10	50854654	50854654	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:50854654C>G	uc001jhz.2	+	8	1368	c.1215C>G	c.(1213-1215)CTC>CTG	p.L405L	CHAT_uc001jhv.1_Silent_p.L287L|CHAT_uc001jhx.1_Silent_p.L287L|CHAT_uc001jhy.1_Silent_p.L287L|CHAT_uc001jia.2_Silent_p.L287L|CHAT_uc010qgs.1_Silent_p.L287L	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	405					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAGGGCACTCCAGCTCCTTC	0.637		NaN											0	0	0	0.001855	0	14	43				
PRKG1	5592	broad.mit.edu	37	10	54048534	54048534	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:54048534G>C	uc001jjm.2	+	15	1907	c.1713G>C	c.(1711-1713)TTG>TTC	p.L571F	PRKG1_uc001jjo.2_Missense_Mutation_p.L586F|PRKG1_uc009xow.1_Missense_Mutation_p.L289F|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	571	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACATCATATTGAGGGGGATTG	0.343		NaN											0	0	0	0.000602	0	5	64				
PCDH15	65217	broad.mit.edu	37	10	56138648	56138648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:56138648G>C	uc001jju.1	-	4	607	c.212C>G	c.(211-213)CCC>CGC	p.P71R	PCDH15_uc010qhq.1_Missense_Mutation_p.P76R|PCDH15_uc010qhr.1_Missense_Mutation_p.P71R|PCDH15_uc010qhs.1_Missense_Mutation_p.P76R|PCDH15_uc010qht.1_Missense_Mutation_p.P71R|PCDH15_uc010qhu.1_Missense_Mutation_p.P71R|PCDH15_uc001jjv.1_Missense_Mutation_p.P49R|PCDH15_uc010qhv.1_Missense_Mutation_p.P71R|PCDH15_uc010qhw.1_Missense_Mutation_p.P71R|PCDH15_uc010qhx.1_Missense_Mutation_p.P71R|PCDH15_uc010qhy.1_Missense_Mutation_p.P76R|PCDH15_uc010qhz.1_Missense_Mutation_p.P71R|PCDH15_uc010qia.1_Missense_Mutation_p.P49R|PCDH15_uc010qib.1_Missense_Mutation_p.P49R|PCDH15_uc001jjw.2_Missense_Mutation_p.P71R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	71	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTATGGTGGGGTCTGGTCC	0.423		NaN								HNSCC(58;0.16)			0	0	0	0.00308	0	8	149				
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:61832871C>T	uc001jky.2	-	37	7960	c.7768G>A	c.(7768-7770)GAA>AAA	p.E2590K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2590					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGTGACACTTCAGTCAGTTTT	0.418		NaN											0	0	0	0.004656	0	28	81				
TET1	80312	broad.mit.edu	37	10	70405499	70405499	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:70405499C>G	uc001jok.3	+	4	3518	c.3013C>G	c.(3013-3015)CTT>GTT	p.L1005V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1005					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TTCATTATCTCTTTTTATACC	0.338		NaN											0	0	0	0.001168	0	6	62				
GRID1	2894	broad.mit.edu	37	10	88123752	88123752	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:88123752T>C	uc001kdl.1	-	2	282	c.181A>G	c.(181-183)ACC>GCC	p.T61A	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	61	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ATGGAGTAGGTGATCTTCTCG	0.602		NaN								Multiple Myeloma(13;0.14)			0	0	0	0.00308	0	8	37				
ZNF518A	9849	broad.mit.edu	37	10	97919613	97919613	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:97919613G>C	uc001klp.2	+	6	4391	c.3534G>C	c.(3532-3534)CAG>CAC	p.Q1178H	ZNF518A_uc001klo.1_Missense_Mutation_p.Q648H|ZNF518A_uc001klq.2_Missense_Mutation_p.Q1178H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q1178H	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CATCTAATCAGATTATAGGAG	0.373		NaN											0	0	0	0.010729	0	11	54				
MUC5B	727897	broad.mit.edu	37	11	1151641	1151641	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:1151641G>C	uc009ycr.1	+	2	141	c.15G>C	c.(13-15)CGG>CGC	p.R5R		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGTTGGCCGGAGGAAGCTGG	0.662		NaN											0	0	0	0.004672	0	3	3				
PLEKHA7	144100	broad.mit.edu	37	11	16892712	16892712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:16892712G>C	uc001mmo.2	-	4	254	c.239C>G	c.(238-240)ACA>AGA	p.T80R	PLEKHA7_uc010rcu.1_Missense_Mutation_p.T80R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	80	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CCTGAATGCTGTGGTCTGCTG	0.428		NaN											0	0	0	0.001984	0	6	32				
WT1	7490	broad.mit.edu	37	11	32456366	32456366	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:32456366G>A	uc001mtn.1	-	1	722	c.526C>T	c.(526-528)CGC>TGC	p.R176C	WT1_uc001mto.1_Missense_Mutation_p.R176C|WT1_uc001mtp.1_Missense_Mutation_p.R176C|WT1_uc001mtq.1_Missense_Mutation_p.R176C|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	108					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCCCGTAGCGACAGGCTCCG	0.692		NaN	D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				0	0	0	0.001168	0	6	18				
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:46771875G>C	uc001ndi.1	-	42	5763	c.5653C>G	c.(5653-5655)CGG>GGG	p.R1885G	CKAP5_uc009ylg.1_Missense_Mutation_p.R1778G|CKAP5_uc001ndj.1_Missense_Mutation_p.R1825G|CKAP5_uc001ndh.1_Missense_Mutation_p.R814G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1885					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TCAATCACCCGAAGGCCTCTT	0.413		NaN											0	0	0	0.006122	0	18	69				
P2RX3	5024	broad.mit.edu	37	11	57118338	57118338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:57118338G>A	uc001nju.2	+	8	884	c.808G>A	c.(808-810)GAG>AAG	p.E270K		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	270	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CAGCGTTTCTGAGAAAAGCAG	0.552		NaN											0	0	0	0.010729	0	11	36				
C11orf9	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:61543557C>T	uc001nsc.1	+	9	1437	c.1341C>T	c.(1339-1341)ATC>ATT	p.I447I	C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	447	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CCATTAACATCGAGCAGTCCC	0.622		NaN											0	0	0	0.000602	0	5	64				
AHNAK	79026	broad.mit.edu	37	11	62287326	62287326	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:62287326C>A	uc001ntl.2	-	5	14863	c.14563G>T	c.(14563-14565)GAC>TAC	p.D4855Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4855					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAATCCAGGTCAACATCAGGT	0.433		NaN											1	0	2.89027e-11	0.014323	3.39882e-11	24	91				
VEGFB	7423	broad.mit.edu	37	11	64004936	64004936	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64004936G>A	uc001nyw.2	+	6	495	c.455G>A	c.(454-456)GGC>GAC	p.G152D	VEGFB_uc001nyx.2_Intron	NM_003377	NP_003368	P49765	VEGFB_HUMAN	vascular endothelial growth factor B precursor	152					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding				0						TCTGTTCCGGGCTGGGACTCT	0.682		NaN											0	0	0	0.000602	0	5	24				
FAU	2197	broad.mit.edu	37	11	64889260	64889260	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64889260T>A	uc001ocx.2	-	2	133	c.26A>T	c.(25-27)GAG>GTG	p.E9V	FAU_uc001ocy.1_Missense_Mutation_p.E9V|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	ubiquitin-like protein fubi and ribosomal	9											0						GGTGTGTAGCTCCTGGGCGCG	0.527		NaN											0	0	0	0.000602	0	5	42				
ACY3	91703	broad.mit.edu	37	11	67412565	67412565	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412565C>G	uc001omq.2	-	6	756	c.585G>C	c.(583-585)ATG>ATC	p.M195I		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	195					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	CCAGGGTCCTCATCCTTGAGA	0.612		NaN											0	0	0	0.012213	0	32	98				
ACY3	91703	broad.mit.edu	37	11	67412598	67412598	+	Missense_Mutation	SNP	C	C	A	rs142720670		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412598C>A	uc001omq.2	-	6	723	c.552G>T	c.(550-552)CAG>CAT	p.Q184H		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	184					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	GCAGCACACCCTGTGGCTGGG	0.602		NaN											1	0	1.10513e-12	0.014323	1.30725e-12	24	82				
IGHMBP2	3508	broad.mit.edu	37	11	68682376	68682376	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:68682376G>A	uc001ook.1	+	6	899	c.797G>A	c.(796-798)GGA>GAA	p.G266E	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	266	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGCCTGGGACACCCTGCC	0.612		NaN											0	0	0	0.008291	0	10	64				
MED17	9440	broad.mit.edu	37	11	93540715	93540715	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:93540715G>C	uc001pem.3	+	10	1773	c.1498G>C	c.(1498-1500)GAG>CAG	p.E500Q		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	500					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTGGAGTTGAGCAGATTCG	0.338		NaN											0	0	0	0.014323	0	21	53				
MAML2	84441	broad.mit.edu	37	11	95712801	95712801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:95712801C>A	uc001pfw.1	-	5	4067	c.2782G>T	c.(2782-2784)GGA>TGA	p.G928*		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	928					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAACAGATCCAGCTCCAAAA	0.413		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								1	0	5.50884e-06	0.013537	6.03564e-06	12	62				
ATM	472	broad.mit.edu	37	11	108192066	108192066	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:108192066A>G	uc001pkb.1	+	45	6876	c.6491A>G	c.(6490-6492)GAG>GGG	p.E2164G	ATM_uc009yxr.1_Missense_Mutation_p.E2164G|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816G|ATM_uc001pkg.1_Missense_Mutation_p.E521G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGCAGCCTTGAGTCTGTGTAT	0.413		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.006214	0	10	78		Valid		
DSCAML1	57453	broad.mit.edu	37	11	117342611	117342611	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:117342611C>G	uc001prh.1	-	15	3108	c.3106G>C	c.(3106-3108)GAG>CAG	p.E1036Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	976	Extracellular (Potential).|Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGTGAGCTCCTTGCTTGGT	0.592		NaN											0	0	0	0.012319	0	21	32				
CBL	867	broad.mit.edu	37	11	119142469	119142469	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119142469C>T	uc001pwe.2	+	3	606	c.468C>T	c.(466-468)CTC>CTT	p.L156L		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	156	Cbl-PTB.|4H.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACTGTCCCTCATCTTCAGCC	0.368		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	0.010818	0	33	49				
MFRP	83552	broad.mit.edu	37	11	119216324	119216324	+	Silent	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119216324A>C	uc001pwj.2	-	5	607	c.447T>G	c.(445-447)TCT>TCG	p.S149S	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.S149S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCCTTGGGCCAGAGAGGAGGC	0.572		NaN											0	0	0	0.004482	0	8	45				
OR8B4	283162	broad.mit.edu	37	11	124294104	124294104	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124294104A>G	uc010sak.1	-	1	664	c.664T>C	c.(664-666)TCC>CCC	p.S222P		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGATGTTGGAGAGTATCAAA	0.468		NaN											0	0	0	0.00245	0	14	29				
VSIG2	23584	broad.mit.edu	37	11	124621381	124621381	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124621381C>A	uc001qas.2	-	2	233	c.157G>T	c.(157-159)GAC>TAC	p.D53Y	VSIG2_uc001qat.2_Missense_Mutation_p.D53Y	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	53	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCGAAGCTGTCTCCCACCGAC	0.637		NaN											1	0	0.00448238	0.004482	0.00466866	8	52				
AKAP3	10566	broad.mit.edu	37	12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:4735736G>A	uc001qnb.3	-	4	2561	c.2332C>T	c.(2332-2334)CAA>TAA	p.Q778*		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	778					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GCTACCCATTGAAGGACGGCT	0.493		NaN											0	0	0	0.000602	0	5	71				
CHD4	1108	broad.mit.edu	37	12	6703629	6703629	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:6703629T>C	uc001qpo.2	-	15	2473	c.2309A>G	c.(2308-2310)AAG>AGG	p.K770R	CHD4_uc001qpn.2_Missense_Mutation_p.K763R|CHD4_uc001qpp.2_Missense_Mutation_p.K767R	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	770	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTTACCTCCTTGTAAAGGGA	0.448		NaN											0	0	0	0.010729	0	12	47				
GYS2	2998	broad.mit.edu	37	12	21693375	21693375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:21693375G>A	uc001rfb.2	-	14	2033	c.1778C>T	c.(1777-1779)TCA>TTA	p.S593L		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	593					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CAGAAGATCTGAGAGCCTCTC	0.403		NaN											0	0	0	0.004656	0	26	160				
IPO8	10526	broad.mit.edu	37	12	30833434	30833434	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:30833434G>C	uc001rjd.2	-	5	791	c.621C>G	c.(619-621)ATC>ATG	p.I207M		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	207					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTGCATAAAAGATTTTCAGAA	0.289		NaN											0	0	0	0.004482	0	9	56				
ARID2	196528	broad.mit.edu	37	12	46243532	46243532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46243532G>C	uc001ros.1	+	14	1885	c.1885G>C	c.(1885-1887)GAT>CAT	p.D629H	ARID2_uc001ror.2_Missense_Mutation_p.D629H|ARID2_uc009zkg.1_Missense_Mutation_p.D85H|ARID2_uc009zkh.1_Missense_Mutation_p.D256H|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	629					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTCCTGATGTATCTCC	0.343		NaN											0	0	0	0.003271	0	36	158		Valid		
ARID2	196528	broad.mit.edu	37	12	46245434	46245434	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46245434T>C	uc001ros.1	+	15	3528	c.3528T>C	c.(3526-3528)GTT>GTC	p.V1176V	ARID2_uc001ror.2_Silent_p.V1176V|ARID2_uc009zkg.1_Silent_p.V632V|ARID2_uc009zkh.1_Silent_p.V803V|ARID2_uc001rou.1_Silent_p.V510V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1176					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATAACAGTTGTGCCAAATA	0.478		NaN											0	0	0	0.006214	0	10	76				
ZNF641	121274	broad.mit.edu	37	12	48737057	48737057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48737057T>C	uc001rrn.1	-	6	1181	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	ZNF641_uc001rro.1_Missense_Mutation_p.Q325R|ZNF641_uc010sls.1_Missense_Mutation_p.Q316R	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	339	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						ATGCACTCTCTGGTGGCTGGC	0.557		NaN											0	0	0	0.003954	0	25	81				
C12orf54	121273	broad.mit.edu	37	12	48879982	48879982	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48879982G>C	uc001rrr.2	+	2	144	c.87G>C	c.(85-87)ATG>ATC	p.M29I	C12orf54_uc009zky.1_RNA	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	hypothetical protein LOC121273	29											0						AAGAGACAATGAGACCACAGG	0.458		NaN											0	0	0	0.001855	0	12	63				
MLL2	8085	broad.mit.edu	37	12	49444981	49444981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:49444981C>G	uc001rta.3	-	10	2485	c.2485G>C	c.(2485-2487)GAG>CAG	p.E829Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	829	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTGATTCCTCAGGTTGGGGG	0.632		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.010729	0	11	49		Valid		
HIGD1C	613227	broad.mit.edu	37	12	51347856	51347856	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:51347856C>A	uc010smw.1	+	1	75	c.75C>A	c.(73-75)GAC>GAA	p.D25E		NM_001109619	NP_001103089	A8MV81	HIG1C_HUMAN	HIG1 domain family, member 1C	25	HIG1.|Cytoplasmic (Potential).					integral to membrane					0						AATCTAGAGACTCCCCCTTTG	0.348		NaN											1	0	0.00621372	0.006214	0.00642191	9	82				
ACVR1B	91	broad.mit.edu	37	12	52379062	52379062	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:52379062C>G	uc001rzn.2	+	6	1108	c.1066C>G	c.(1066-1068)CTG>GTG	p.L356V	ACVR1B_uc001rzl.2_Missense_Mutation_p.L356V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L356V|ACVR1B_uc010snn.1_Missense_Mutation_p.L397V	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	356	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AGACCTGGGCCTGGCTGTCCG	0.522		NaN											0	0	0	0.00245	0	14	64				
RARG	5916	broad.mit.edu	37	12	53607931	53607931	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53607931A>G	uc001sce.2	-	7	1210	c.725T>C	c.(724-726)GTG>GCG	p.V242A	RARG_uc001scd.2_Missense_Mutation_p.V231A|RARG_uc010sob.1_Missense_Mutation_p.V220A|RARG_uc001scf.2_Missense_Mutation_p.V242A|RARG_uc001scg.2_Missense_Mutation_p.V170A|RARG_uc010soc.1_Missense_Mutation_p.V121A|RARG_uc010sod.1_Missense_Mutation_p.V279A	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	242	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCAAACTCCACGATCTTGAT	0.557		NaN									OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003271	0	37	122				
ESPL1	9700	broad.mit.edu	37	12	53673530	53673530	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53673530G>A	uc001sck.2	+	12	2470	c.2379G>A	c.(2377-2379)CTG>CTA	p.L793L	ESPL1_uc001scj.2_Silent_p.L468L|ESPL1_uc010soe.1_Silent_p.L4L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	793					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGCAGGCTCTGGAGGTCCTCC	0.597		NaN											0	0	0	0.006999	0	38	87				
PAWR	5074	broad.mit.edu	37	12	79986470	79986470	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:79986470G>A	uc001syx.2	-	7	1226	c.940C>T	c.(940-942)CTA>TTA	p.L314L		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	314	Leucine-zipper.				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity				0						ATGTCATCTAGGTCCTTAAGA	0.234		NaN											0	0	0	0.001984	0	6	23				
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:81648681G>T	uc001szl.1	+	16	2132	c.2041G>T	c.(2041-2043)GAA>TAA	p.E681*	ACSS3_uc001szm.1_Nonsense_Mutation_p.E680*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E363*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	681						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCACGTAGAAGAAATGCTGAA	0.308		NaN											1	0	1.12685e-05	0.004482	1.2279e-05	9	65				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:106820975C>T	uc001tlp.2	+	13	1324	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTTTTTTTAGCTTTTATCTCT	0.274		NaN											0	0	0	0.001984	0	5	11				
CUX2	23316	broad.mit.edu	37	12	111779715	111779715	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:111779715G>T	uc001tsa.1	+	21	3670	c.3517G>T	c.(3517-3519)GTG>TTG	p.V1173L		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1173	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGCCCCGGGTGGTGCTGGC	0.662		NaN											1	0	5.16669e-11	0.010729	6.02279e-11	12	58				
RPL6	6128	broad.mit.edu	37	12	112846122	112846122	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:112846122C>G	uc001ttu.2	-	3	487	c.258G>C	c.(256-258)GAG>GAC	p.E86D	RPL6_uc001ttv.2_Missense_Mutation_p.E86D|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	86					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1						CGAGAACCTTCTCCTTCTTTT	0.433		NaN											0	0	0	0.00245	0	15	97				
OAS2	4939	broad.mit.edu	37	12	113445538	113445538	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:113445538C>G	uc001tuj.2	+	9	1825	c.1685C>G	c.(1684-1686)TCT>TGT	p.S562C	OAS2_uc001tui.1_Missense_Mutation_p.S562C	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	562	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						CCAAAGGGGTCTTTGCCCCCA	0.547		NaN											0	0	0	0.006122	0	19	108				
SACS	26278	broad.mit.edu	37	13	23904689	23904689	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:23904689G>T	uc001uon.2	-	10	13915	c.13326C>A	c.(13324-13326)GGC>GGA	p.G4442G	SACS_uc001uoo.2_Silent_p.G4295G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4442					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACTGGATTGCCAACCGACT	0.468		NaN											1	0	3.90053e-15	0.012213	4.65509e-15	29	112				
SLC7A1	6541	broad.mit.edu	37	13	30107006	30107006	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:30107006C>G	uc001uso.2	-	4	871	c.484G>C	c.(484-486)GAA>CAA	p.E162Q		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	162	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCGGGGTTTTCAGCCAGCACG	0.547		NaN											0	0	0	0.014323	0	21	77				
FRY	10129	broad.mit.edu	37	13	32841467	32841467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32841467A>C	uc001utx.2	+	55	8603	c.8107A>C	c.(8107-8109)ACA>CCA	p.T2703P	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.T258P|FRY_uc001utz.2_Missense_Mutation_p.T228P|FRY_uc010tdx.1_Missense_Mutation_p.T73P	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTGTGTATACATTTCATGT	0.512		NaN											0	0	0	0.004482	0	8	58				
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32945213C>T	uc001uub.1	+	20	8835	c.8608C>T	c.(8608-8610)CAG>TAG	p.Q2870*		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2870					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			0	0	0	0.013537	0	12	51				
MAB21L1	4081	broad.mit.edu	37	13	36049441	36049441	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:36049441A>G	uc001uvc.2	-	1	1392	c.835T>C	c.(835-837)TCC>CCC	p.S279P	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	279					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACTCGTAGGAAACCAGAGTC	0.522		NaN											0	0	0	0.006214	0	10	80				
POSTN	10631	broad.mit.edu	37	13	38153448	38153448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:38153448C>G	uc001uwo.3	-	13	1827	c.1709G>C	c.(1708-1710)GGA>GCA	p.G570A	POSTN_uc010tet.1_Missense_Mutation_p.G98A|POSTN_uc001uwp.3_Missense_Mutation_p.G570A|POSTN_uc001uwr.2_Missense_Mutation_p.G570A|POSTN_uc001uwq.2_Missense_Mutation_p.G570A|POSTN_uc010teu.1_Missense_Mutation_p.G570A|POSTN_uc010tev.1_Missense_Mutation_p.G570A|POSTN_uc010tew.1_Missense_Mutation_p.G570A|POSTN_uc010tex.1_Missense_Mutation_p.G485A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	570	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGAAAACTCCTGGTGTCAG	0.318		NaN											0	0	0	0.001855	0	14	74				
INTS6	26512	broad.mit.edu	37	13	51950240	51950240	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:51950240C>G	uc001vfk.2	-	13	2287	c.1673G>C	c.(1672-1674)AGA>ACA	p.R558T	INTS6_uc001vfi.2_Missense_Mutation_p.R242T|INTS6_uc001vfj.2_Missense_Mutation_p.R545T|INTS6_uc001vfl.2_Missense_Mutation_p.R380T	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	558					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGATCTCATTCTTGTTAAGTG	0.323		NaN											0	0	0	0.013537	0	13	28				
RNF113B	140432	broad.mit.edu	37	13	98828982	98828982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:98828982C>T	uc001vnk.2	-	1	540	c.509G>A	c.(508-510)GGG>GAG	p.G170E	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	170							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCTCGCCATCCCCGAGGAGGA	0.632		NaN											0	0	0	0.001984	0	7	30				
DAOA	267012	broad.mit.edu	37	13	106124975	106124975	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:106124975G>C	uc001vqb.2	+	3	496	c.222G>C	c.(220-222)CAG>CAC	p.Q74H	DAOA_uc010tjf.1_Missense_Mutation_p.Q3H|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R10T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	74						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAATGGCACAGAGGCATTTAC	0.428		NaN											0	0	0	0.001168	0	6	39				
SUPT16H	11198	broad.mit.edu	37	14	21821928	21821928	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:21821928C>T	uc001wao.2	-	24	3193	c.2854G>A	c.(2854-2856)GAA>AAA	p.E952K	SUPT16H_uc001wan.2_Missense_Mutation_p.E96K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	952	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAGTCATCTTCTGAAGGATTA	0.408		NaN											0	0	0	0.00308	0	7	86				
C14orf21	161424	broad.mit.edu	37	14	24769358	24769358	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:24769358C>T	uc001wol.1	+	1	261	c.198C>T	c.(196-198)CGC>CGT	p.R66R	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	66							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		GATATTTCCGCCGGGCGCTGT	0.637		NaN											0	0	0	0.010729	0	12	92				
PELI2	57161	broad.mit.edu	37	14	56746399	56746399	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:56746399C>G	uc001xch.2	+	3	499	c.213C>G	c.(211-213)ATC>ATG	p.I71M		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	71					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						attaGGCTATCAGCTGCAAAG	0.373		NaN											0	0	0	0.00245	0	15	54				
VTI1B	10490	broad.mit.edu	37	14	68129250	68129250	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:68129250C>T	uc001xjt.2	-	2	514	c.118G>A	c.(118-120)GAA>AAA	p.E40K	VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	40	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTCTTCTTTTCTTCTAGAAAA	0.224		NaN											0	0	0	0.001168	0	6	35				
LTBP2	4053	broad.mit.edu	37	14	75018986	75018986	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75018986C>G	uc001xqa.2	-	6	1690	c.1303G>C	c.(1303-1305)GAC>CAC	p.D435H		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	435					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCCCTGTCCGGCTGCGGG	0.672		NaN											0	0	0	0.000602	0	4	51				
YLPM1	56252	broad.mit.edu	37	14	75230761	75230761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75230761C>G	uc001xqj.3	+	1	693	c.569C>G	c.(568-570)TCC>TGC	p.S190C		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTCAGCCGTCCCCTTCGCAG	0.597		NaN											0	0	0	0.004482	0	8	42				
ATXN3	4287	broad.mit.edu	37	14	92537344	92537344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:92537344G>T	uc001yac.3	-	10	995	c.926C>A	c.(925-927)TCA>TAA	p.S309*	ATXN3_uc010aug.2_Nonsense_Mutation_p.S294*|ATXN3_uc001yad.3_Nonsense_Mutation_p.S254*|ATXN3_uc010auh.2_Nonsense_Mutation_p.S243*|ATXN3_uc001yae.3_Nonsense_Mutation_p.S211*	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	309					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ACTCTGTCCTGATAGGTCCCC	0.343		NaN											1	0	2.47511e-08	0.008361	2.82769e-08	32	39				
BTBD7	55727	broad.mit.edu	37	14	93709011	93709011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:93709011C>A	uc001ybo.2	-	11	3333	c.3007G>T	c.(3007-3009)GAA>TAA	p.E1003*	BTBD7_uc010aur.2_Nonsense_Mutation_p.E528*|BTBD7_uc010two.1_Nonsense_Mutation_p.E823*|BTBD7_uc001ybp.2_Nonsense_Mutation_p.E652*	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	1003										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTAGCTTCTTCCTGTTTTTTA	0.493		NaN											1	0	2.5401e-28	0.01441	3.05879e-28	59	87				
C15orf2	23742	broad.mit.edu	37	15	24922473	24922473	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:24922473G>T	uc001ywo.2	+	1	1933	c.1459G>T	c.(1459-1461)GTC>TTC	p.V487F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	487	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTATAATTCAGTCGTAGGAGC	0.507		NaN											1	0	8.34094e-07	0.008871	9.29088e-07	21	167				
NDUFAF1	51103	broad.mit.edu	37	15	41687143	41687143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:41687143C>A	uc001znx.2	-	3	1055	c.673G>T	c.(673-675)GAG>TAG	p.E225*	NDUFAF1_uc010bcf.2_RNA	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	225					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCTGTGTCCTCCTTGATATTC	0.488		NaN											1	0	3.07112e-06	0.010729	3.39261e-06	12	39				
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:43738684C>T	uc001zrs.2	-	14	3074	c.2926G>A	c.(2926-2928)GGG>AGG	p.G976R	TP53BP1_uc010udp.1_Missense_Mutation_p.G976R|TP53BP1_uc001zrq.3_Missense_Mutation_p.G981R|TP53BP1_uc001zrr.3_Missense_Mutation_p.G981R|TP53BP1_uc010udq.1_Missense_Mutation_p.G981R	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	976					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	0.009535	0	29	76				
DUT	1854	broad.mit.edu	37	15	48626677	48626677	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:48626677G>A	uc001zws.2	+	3	575	c.483G>A	c.(481-483)GCG>GCA	p.A161A	DUT_uc001zwt.2_Silent_p.A50A|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Silent_p.A73A|DUT_uc001zww.2_Silent_p.A73A|uc010ben.1_5'Flank	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	161					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCAGATAGCGCTCCCTTCTG	0.363		NaN						Modulation_of_nucleotide_pools					0	0	0	0.001168	0	6	39				
C15orf33	196951	broad.mit.edu	37	15	49800544	49800544	+	Silent	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:49800544A>C	uc001zxl.2	-	11	1170	c.876T>G	c.(874-876)GGT>GGG	p.G292G	C15orf33_uc001zxm.2_Silent_p.G258G	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	292										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GAGGTTTTAAACCTGTTAATA	0.303		NaN											0	0	0	0.001168	0	6	44				
AP4E1	23431	broad.mit.edu	37	15	51289655	51289655	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:51289655G>A	uc001zyx.1	+	18	2509	c.2479G>A	c.(2479-2481)GAA>AAA	p.E827K	AP4E1_uc010bex.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	827					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTGGCATATGAAGATGATTA	0.353		NaN											0	0	0	0.004482	0	9	55				
KIAA1370	56204	broad.mit.edu	37	15	52902491	52902491	+	Missense_Mutation	SNP	A	A	G	rs61731677	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:52902491A>G	uc002acg.3	-	6	773	c.620T>C	c.(619-621)GTT>GCT	p.V207A	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V119A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V214A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	207				V -> A (in Ref. 2; BAF85606).							0				all cancers(107;0.0803)		TTTCAAGGCAACATTGTGAGA	0.393		NaN											0	0	0	0.009096	0	4	64				
MPI	4351	broad.mit.edu	37	15	75190013	75190013	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:75190013C>T	uc002azc.1	+	8	1219	c.1214C>T	c.(1213-1215)TCA>TTA	p.S405L	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.S355L|MPI_uc002aze.1_Missense_Mutation_p.S344L	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	405					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						GAGAGTGTCTCACTGAAGCTT	0.562		NaN											0	0	0	0.009096	0	4	46				
FAH	2184	broad.mit.edu	37	15	80467381	80467381	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:80467381G>T	uc002bfj.2	+	11	943	c.861G>T	c.(859-861)CTG>CTT	p.L287L	FAH_uc002bfk.1_Silent_p.L287L|FAH_uc002bfm.1_Silent_p.L287L|FAH_uc002bfn.1_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	287					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TGCCGTATCTGTGCCATGACG	0.587		NaN							Tyrosinemia_type_1				1	0	1.12685e-05	0.004482	1.2279e-05	8	47				
AKAP13	11214	broad.mit.edu	37	15	86273898	86273898	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:86273898T>A	uc002blv.1	+	30	7412	c.7242T>A	c.(7240-7242)GCT>GCA	p.A2414A	AKAP13_uc002blu.1_Silent_p.A2418A|AKAP13_uc002blw.1_Silent_p.A879A|AKAP13_uc002blx.1_Silent_p.A659A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2414	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGAAGAGGCTCTCAAAGGAG	0.478		NaN									OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00499	0	17	73				
ACAN	176	broad.mit.edu	37	15	89391184	89391184	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:89391184G>A	uc010upo.1	+	9	2021	c.1647G>A	c.(1645-1647)AAG>AAA	p.K549K	ACAN_uc002bmx.2_Silent_p.K549K|ACAN_uc010upp.1_Silent_p.K549K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	549					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGTGACAAGGACAGCAGCC	0.572		NaN											0	0	0	0.004482	0	9	72				
IGF1R	3480	broad.mit.edu	37	15	99491937	99491937	+	Missense_Mutation	SNP	T	T	G	rs45504297		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:99491937T>G	uc002bul.2	+	20	3772	c.3722T>G	c.(3721-3723)CTG>CGG	p.L1241R	IGF1R_uc010bon.2_Missense_Mutation_p.L1240R	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1241	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCTGACATGCTGTACGTACTT	0.537		NaN											0	0	0	0.00308	0	7	71				
NARFL	64428	broad.mit.edu	37	16	786283	786283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:786283G>C	uc002cjr.2	-	4	434	c.422C>G	c.(421-423)TCA>TGA	p.S141*	NARFL_uc002cjp.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjq.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjs.2_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	141					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TTTAAAGAATGAGGTTAATTT	0.522		NaN											0	0	0	0.001984	0	7	54				
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:30665636G>C	uc002dyy.2	+	7	892	c.634G>C	c.(634-636)GAC>CAC	p.D212H	PRR14_uc002dyz.2_Missense_Mutation_p.D57H|PRR14_uc002dza.2_Missense_Mutation_p.D212H|PRR14_uc002dzb.1_Missense_Mutation_p.D26H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.										0			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577		NaN											0	0	0	0.00623	0	40	128				
ATP6V0D1	9114	broad.mit.edu	37	16	67514921	67514921	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67514921C>T	uc002ete.1	-	1	169	c.69G>A	c.(67-69)CTG>CTA	p.L23L	ATP6V0D1_uc010vjo.1_Silent_p.L23L	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCCCGGCCTTCAGGCCGCGCA	0.652		NaN											0	0	0	0.003163	0	15	44				
FAM65A	79567	broad.mit.edu	37	16	67578265	67578265	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67578265C>T	uc010vjp.1	+	15	2820	c.2724C>T	c.(2722-2724)CTC>CTT	p.L908L	FAM65A_uc002eth.2_Silent_p.L888L|FAM65A_uc010cej.2_Silent_p.L891L|FAM65A_uc010vjq.1_Silent_p.L902L|FAM65A_uc002etk.2_Silent_p.L886L	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	892						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCGCCCCCTCAGCACGGGGT	0.652		NaN											0	0	0	0.00632	0	28	73				
ZC3H18	124245	broad.mit.edu	37	16	88643559	88643559	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:88643559G>C	uc002fky.2	+	2	228	c.28G>C	c.(28-30)GAT>CAT	p.D10H	ZC3H18_uc010voy.1_Missense_Mutation_p.D10H|ZC3H18_uc010voz.1_Missense_Mutation_p.D10H|ZC3H18_uc010vpa.1_Missense_Mutation_p.D10H	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	10						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTGAACGGGATCCTCACTC	0.547		NaN											0	0	0	0.001984	0	7	42				
ANKFY1	51479	broad.mit.edu	37	17	4080500	4080500	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080500G>A	uc002fxq.1	-	19	2734	c.2696C>T	c.(2695-2697)TCA>TTA	p.S899L	ANKFY1_uc002fxn.2_Missense_Mutation_p.S941L|ANKFY1_uc002fxo.2_Missense_Mutation_p.S900L|ANKFY1_uc002fxp.2_Missense_Mutation_p.S898L|ANKFY1_uc010ckp.2_Missense_Mutation_p.S841L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	899	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						CTGGACTCTTGAATTCACATT	0.473		NaN											0	0	0	0.004656	0	27	47				
ANKFY1	51479	broad.mit.edu	37	17	4080558	4080558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080558G>A	uc002fxq.1	-	19	2676	c.2638C>T	c.(2638-2640)CAG>TAG	p.Q880*	ANKFY1_uc002fxn.2_Nonsense_Mutation_p.Q922*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.Q881*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.Q879*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.Q822*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	880	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCAGAGTTCTGAACTGCCACA	0.473		NaN											0	0	0	0.005443	0	28	53				
DNAH2	146754	broad.mit.edu	37	17	7710807	7710807	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:7710807G>C	uc002giu.1	+	62	9646	c.9632G>C	c.(9631-9633)CGG>CCG	p.R3211P	DNAH2_uc010cnm.1_Missense_Mutation_p.R149P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3211	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTATATCGGGTGGTGGAG	0.642		NaN											0	0	0	0.001168	0	5	53				
RAD51L3	5892	broad.mit.edu	37	17	33427979	33427979	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:33427979T>G	uc002hir.2	-	10	1236	c.980A>C	c.(979-981)CAG>CCG	p.Q327P	RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_3'UTR|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q347P|RAD51L3_uc002his.2_Missense_Mutation_p.Q215P|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q208P|RAD51L3_uc010wce.1_Missense_Mutation_p.Q208P|RAD51L3_uc002hit.2_Missense_Mutation_p.Q208P|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q150P	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	327					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGTCATGTCTGATCACCCTG	0.532		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	0.00499	0	16	61				
MRM1	79922	broad.mit.edu	37	17	34958603	34958603	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:34958603G>C	uc002hne.2	+	1	579	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	MRM1_uc002hnf.2_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	122					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGTCTGCATGGAGGTGAGCCC	0.682		NaN											0	0	0	0.004672	0	3	35				
ACACA	31	broad.mit.edu	37	17	35591979	35591979	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:35591979C>G	uc002hnm.2	-	25	3237	c.3046G>C	c.(3046-3048)GAG>CAG	p.E1016Q	ACACA_uc002hnk.2_Missense_Mutation_p.E938Q|ACACA_uc002hnl.2_Missense_Mutation_p.E958Q|ACACA_uc002hnn.2_Missense_Mutation_p.E1016Q|ACACA_uc002hno.2_Missense_Mutation_p.E1053Q|ACACA_uc010cuz.2_Missense_Mutation_p.E1016Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1016					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTTTATTCTCTTCTCGGAGG	0.398		NaN											0	0	0	0.006122	0	19	57				
MED1	5469	broad.mit.edu	37	17	37599809	37599809	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:37599809G>T	uc002hrv.3	-	3	417	c.205C>A	c.(205-207)CTC>ATC	p.L69I	MED1_uc010wee.1_5'UTR|MED1_uc002hru.2_Missense_Mutation_p.L69I	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	69	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACCTTTGAGAGCCTTCTGC	0.398		NaN								HNSCC(31;0.082)			1	0	0.00448238	0.004482	0.00466866	8	49				
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41063350C>T	uc002icb.1	+	5	1060	c.981C>T	c.(979-981)TTC>TTT	p.F327F	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	327	Helical; (Potential).		Missing (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577		NaN							Glycogen_Storage_Disease_type_Ia				0	0	0	0.010729	0	10	117				
AARSD1	80755	broad.mit.edu	37	17	41105755	41105755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41105755C>G	uc002icc.2	-	10	997	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	AARSD1_uc002icd.2_Missense_Mutation_p.E445Q|AARSD1_uc002ice.2_Missense_Mutation_p.E415Q|AARSD1_uc002icf.2_Missense_Mutation_p.E506Q|AARSD1_uc010whg.1_Missense_Mutation_p.E506Q	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	332					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCCAATCTCATTGGCAATG	0.502		NaN											0	0	0	0.00308	0	8	54				
BRCA1	672	broad.mit.edu	37	17	41203122	41203122	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41203122G>T	uc002icq.2	-	20	5522	c.5290C>A	c.(5290-5292)CTA>ATA	p.L1764I	BRCA1_uc010whp.1_Missense_Mutation_p.L613I|BRCA1_uc010whl.1_Missense_Mutation_p.L660I|BRCA1_uc010whm.1_Missense_Mutation_p.L74I|BRCA1_uc002icp.3_Missense_Mutation_p.L1693I|BRCA1_uc002icu.2_Missense_Mutation_p.L660I|BRCA1_uc010cyx.2_Missense_Mutation_p.L1717I|BRCA1_uc002ict.2_Missense_Mutation_p.L1785I|BRCA1_uc010whn.1_Missense_Mutation_p.L255I|BRCA1_uc010who.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1764	BRCT 2.		L -> P (in BC; unknown pathological significance).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATTTCTAGCCCCCTGAAG	0.463		NaN	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			1	0	0.00307968	0.00308	0.00322442	8	40				
IMP5	162540	broad.mit.edu	37	17	43923859	43923859	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:43923859G>A	uc010wka.1	+	1	1587	c.1587G>A	c.(1585-1587)CAG>CAA	p.Q529Q	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	529	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACTGGCCAGGGCAGAGCTA	0.632		NaN											0	0	0	0.008291	0	11	55				
METTL2A	339175	broad.mit.edu	37	17	60501649	60501649	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60501649G>T	uc002izv.2	+	2	198	c.180G>T	c.(178-180)CAG>CAT	p.Q60H	METTL2A_uc002izw.2_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	60							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACAGTATCCAGCGGGTGTGCC	0.592		NaN									OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	0.00024832	0.009096	0.000263429	3	30				
TLK2	11011	broad.mit.edu	37	17	60629727	60629727	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60629727A>G	uc010ddp.2	+	8	864	c.596A>G	c.(595-597)AAA>AGA	p.K199R	TLK2_uc002izx.3_Missense_Mutation_p.K47R|TLK2_uc002izz.3_Missense_Mutation_p.K199R|TLK2_uc002jaa.3_Missense_Mutation_p.K167R|TLK2_uc010wpd.1_Missense_Mutation_p.K167R	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	199					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						AGCTCCCAAAAACAGATCTCC	0.478		NaN											0	0	0	0.004482	0	5	25				
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:63010911T>C	uc002jfc.2	-	4	807	c.598A>G	c.(598-600)AGA>GGA	p.R200G	GNA13_uc010wqh.1_Missense_Mutation_p.R105G	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	200	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GTGGGTCTTCTGGCAAGCAGA	0.353		NaN											0	0	0	0.008871	0	19	49				
AMZ2	51321	broad.mit.edu	37	17	66247008	66247008	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:66247008C>G	uc002jgs.1	+	4	474	c.357C>G	c.(355-357)TTC>TTG	p.F119L	AMZ2_uc002jgr.1_Missense_Mutation_p.F119L|AMZ2_uc002jgt.1_Missense_Mutation_p.F119L|AMZ2_uc002jgu.1_Missense_Mutation_p.F119L|AMZ2_uc002jgv.1_Missense_Mutation_p.F119L|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.F119L	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	119							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGCATATTTCTATGGCTTGA	0.368		NaN											0	0	0	0.00308	0	8	59				
C17orf77	146723	broad.mit.edu	37	17	72588357	72588358	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72588357_72588358CC>AG	uc002jla.1	+	3	534_535	c.172_173CC>AG	c.(172-174)CCT>AGT	p.P58S	CD300LD_uc002jkz.2_5'UTR	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	58						extracellular region					0						TGTCTCCTCTCCTCTCCTTGGT	0.55		NaN											0	0	0	0.004672	0	11	52				
USH1G	124590	broad.mit.edu	37	17	72915769	72915769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72915769C>T	uc002jme.1	-	2	1345	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	USH1G_uc010wro.1_Missense_Mutation_p.E285K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	388	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCTAGTCTCGGGCTCCAGG	0.632		NaN											0	0	0	0.00308	0	7	41				
CASKIN2	57513	broad.mit.edu	37	17	73498743	73498743	+	Silent	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73498743A>T	uc002joc.2	-	18	2962	c.2412T>A	c.(2410-2412)CCT>CCA	p.P804P	CASKIN2_uc010wsc.1_Silent_p.P722P	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	804	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGGGGCCAGGGCGGCTTA	0.711		NaN											0	0	0	0.004672	0	3	6				
UNK	85451	broad.mit.edu	37	17	73780818	73780818	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73780818G>A	uc002jpm.2	+	2	85	c.85G>A	c.(85-87)GAA>AAA	p.E29K	UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	Error:Variant_position_missing_in_Q9C0B0_after_alignment							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637		NaN											0	0	0	0.004672	0	3	21				
EVPL	2125	broad.mit.edu	37	17	74005731	74005731	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:74005731C>T	uc002jqi.2	-	22	3783	c.3555G>A	c.(3553-3555)AAG>AAA	p.K1185K	EVPL_uc010wss.1_Silent_p.K1207K|EVPL_uc010wst.1_Silent_p.K655K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1185	Central fibrous rod domain.|Plectin 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGGGCCTCTGCTTCTCCACCA	0.632		NaN											0	0	0	0.009096	0	4	57				
THOC4	10189	broad.mit.edu	37	17	79846256	79846256	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:79846256C>G	uc002kbu.2	-	5	647	c.641G>C	c.(640-642)GGA>GCA	p.G214A		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	207	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAAAACCTCCAGCGCCACG	0.612		NaN											0	0	0	0.00308	0	8	15				
LPIN2	9663	broad.mit.edu	37	18	2939525	2939525	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:2939525C>T	uc002klo.2	-	6	1014	c.775G>A	c.(775-777)GAG>AAG	p.E259K		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	259					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGTGAGACTCTGATCTGAGC	0.512		NaN											0	0	0	0.00623	0	41	36				
SLC14A1	6563	broad.mit.edu	37	18	43319618	43319618	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:43319618C>T	uc010xcn.1	+	9	1256	c.937C>T	c.(937-939)CTT>TTT	p.L313F	SLC14A1_uc010dnk.2_Missense_Mutation_p.L369F|SLC14A1_uc002lbf.3_Missense_Mutation_p.L313F|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.L208F|SLC14A1_uc002lbh.3_Missense_Mutation_p.L205F|SLC14A1_uc002lbi.3_Missense_Mutation_p.L181F|SLC14A1_uc002lbj.3_Missense_Mutation_p.L369F|SLC14A1_uc002lbk.3_Missense_Mutation_p.L313F	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	313	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCTCCTGGCTCTTGGCTGTGG	0.468		NaN											0	0	0	0.004482	0	9	35				
ELANE	1991	broad.mit.edu	37	19	855684	855684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:855684C>T	uc002lqb.2	+	4	525	c.487C>T	c.(487-489)CGT>TGT	p.R163C		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	163	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCAGGAACCGTGGGATCGC	0.706		NaN							Kostmann_syndrome				0	0	0	0.010729	0	10	50				
C19orf28	126321	broad.mit.edu	37	19	3548011	3548011	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:3548011C>A	uc002lxz.2	-	4	842	c.672G>T	c.(670-672)GTG>GTT	p.V224V	C19orf28_uc002lxw.2_Silent_p.V224V|C19orf28_uc002lxx.2_Silent_p.V224V|C19orf28_uc002lxy.2_Silent_p.V215V	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	224	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACACCCACCACCAGCAGGG	0.701		NaN											1	0	0.004672	0.004672	0.00484101	3	23				
DNM2	1785	broad.mit.edu	37	19	10883223	10883223	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:10883223G>A	uc002mps.1	+	3	468	c.304G>A	c.(304-306)GAA>AAA	p.E102K	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.E102K|DNM2_uc002mpv.1_Missense_Mutation_p.E102K|DNM2_uc002mpu.1_Missense_Mutation_p.E102K|DNM2_uc010dxl.1_Missense_Mutation_p.E102K	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	102					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCAGGAGATTGAAGCAGAGAC	0.522		NaN											0	0	0	0.001855	0	13	90				
ZNF709	163051	broad.mit.edu	37	19	12595589	12595589	+	Translation_Start_Site	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:12595589G>T	uc002mtv.3	-	1	44	c.-117C>A	c.(-119--115)CTCTG>CTATG		ZNF709_uc002mtw.3_Intron|ZNF709_uc002mtx.3_Intron	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGAGACCCCAGAGCGGAGCGC	0.682		NaN											1	0	0.004672	0.004672	0.00484101	3	17				
CC2D1A	54862	broad.mit.edu	37	19	14037643	14037643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14037643C>G	uc002mxo.2	+	20	2382	c.2083C>G	c.(2083-2085)CAG>GAG	p.Q695E	CC2D1A_uc002mxp.2_Missense_Mutation_p.Q695E|CC2D1A_uc010dzh.2_Missense_Mutation_p.Q264E|CC2D1A_uc002mxq.1_Missense_Mutation_p.Q340E	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	695	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGAAGAAGCTCAGAAAGACAA	0.587		NaN											0	0	0	0.001855	0	14	46				
OR7C1	26664	broad.mit.edu	37	19	14910225	14910225	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14910225C>T	uc010xnz.1	-	1	724	c.724G>A	c.(724-726)GGT>AGT	p.G242S		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	242	Helical; Name=6; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGGTGGGAACCACAGGTGGAA	0.463		NaN											0	0	0	0.004482	0	9	78				
CALR3	125972	broad.mit.edu	37	19	16601209	16601209	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:16601209C>T	uc002ned.2	-	3	429	c.366G>A	c.(364-366)CTG>CTA	p.L122L	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	122	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						ATTTTCCATTCAGGTTCTTCT	0.423		NaN											0	0	0	0.007291	0	26	55				
C19orf62	29086	broad.mit.edu	37	19	17382464	17382464	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:17382464G>C	uc002nfu.2	+	3	462	c.344G>C	c.(343-345)GGC>GCC	p.G115A	C19orf62_uc010xpl.1_Missense_Mutation_p.G115A|C19orf62_uc002nfv.2_Missense_Mutation_p.G115A|C19orf62_uc010ean.2_Intron|C19orf62_uc002nfw.2_Missense_Mutation_p.G115A	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	mediator of Rap80 interactions and targeting 40	115	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	p.G115V(1)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						TCGTTCAACGGGTAAGAGGGA	0.532		NaN											0	0	0	0.009096	0	3	18				
NCAN	1463	broad.mit.edu	37	19	19339266	19339266	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:19339266C>G	uc002nlz.2	+	8	2936	c.2837C>G	c.(2836-2838)TCA>TGA	p.S946*	NCAN_uc010ecc.1_Nonsense_Mutation_p.S510*	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	946					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TCAGTTTCCTCAGGGGAGCCT	0.647		NaN											0	0	0	0.004007	0	16	131				
ZNF43	7594	broad.mit.edu	37	19	21992472	21992472	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:21992472C>T	uc002nqj.2	-	4	497	c.367G>A	c.(367-369)GAG>AAG	p.E123K	ZNF43_uc010ecv.2_Missense_Mutation_p.E117K|ZNF43_uc002nql.2_Missense_Mutation_p.E117K|ZNF43_uc002nqm.2_Missense_Mutation_p.E117K|ZNF43_uc002nqk.2_Missense_Mutation_p.E53K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCTTACACTCATCCACACTT	0.338		NaN											0	0	0	0.001168	0	6	110				
ANKRD27	84079	broad.mit.edu	37	19	33110200	33110200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:33110200G>A	uc002ntn.1	-	20	2129	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	658					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					CTCCTGCCTTGAGCTGGCTGA	0.642		NaN											0	0	0	0.006214	0	7	102				
KIAA0355	9710	broad.mit.edu	37	19	34818975	34818975	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:34818975C>G	uc002nvd.3	+	6	1882	c.1023C>G	c.(1021-1023)ACC>ACG	p.T341T		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	341										ovary(1)	1	Esophageal squamous(110;0.162)					AGCTCCCCACCGTCCCTGTGC	0.607		NaN											0	0	0	0.006122	0	18	91				
ZNF146	7705	broad.mit.edu	37	19	36727883	36727883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:36727883G>C	uc002odq.3	+	4	2064	c.541G>C	c.(541-543)GAG>CAG	p.E181Q	ZNF146_uc010eet.2_Missense_Mutation_p.E181Q|ZNF146_uc010eeu.2_Missense_Mutation_p.E181Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	181					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TCACACTGGAGAGAAACCCTA	0.393		NaN											0	0	0	0.01441	0	57	59				
ZNF607	84775	broad.mit.edu	37	19	38189439	38189439	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:38189439T>G	uc002ohc.1	-	5	2189	c.1593A>C	c.(1591-1593)AGA>AGC	p.R531S	ZNF607_uc002ohb.1_Missense_Mutation_p.K530N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCAAAGGGTTTCTTACCAC	0.403		NaN											0	0	0	0.01441	0	62	80				
SAMD4B	55095	broad.mit.edu	37	19	39866329	39866329	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39866329C>G	uc002olb.2	+	7	1742	c.707C>G	c.(706-708)TCC>TGC	p.S236C	SAMD4B_uc002ola.2_Missense_Mutation_p.S236C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	236							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGAAGCGCTCCATGTCACTC	0.602		NaN											0	0	0	0.012319	0	23	244				
SAMD4B	55095	broad.mit.edu	37	19	39868426	39868426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39868426G>A	uc002olb.2	+	10	2441	c.1406G>A	c.(1405-1407)GGA>GAA	p.G469E	SAMD4B_uc002ola.2_Missense_Mutation_p.G469E	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	469							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCGCCGACGGAGACATCCCC	0.622		NaN											0	0	0	0.009096	0	4	52				
TIMM50	92609	broad.mit.edu	37	19	39976916	39976916	+	Silent	SNP	G	G	A	rs62120692		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39976916G>A	uc002olu.1	+	7	1024	c.891G>A	c.(889-891)ACG>ACA	p.T297T	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	194	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATCTTTACGTCAGAGACTG	0.552		NaN											0	0	0	0.009535	0	31	225				
CEACAM7	1087	broad.mit.edu	37	19	42192066	42192066	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:42192066C>G	uc002ori.1	-	1	31	c.29G>C	c.(28-30)AGA>ACA	p.R10T	CEACAM7_uc010ehx.2_Missense_Mutation_p.R10T|CEACAM7_uc010ehy.1_Missense_Mutation_p.R10T	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	10						anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AATGCACACTCTGTATGGACA	0.617		NaN											0	0	0	0.00245	0	14	44				
ZNF223	7766	broad.mit.edu	37	19	44571048	44571048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:44571048C>T	uc002oyf.1	+	5	1320	c.1067C>T	c.(1066-1068)TCC>TTC	p.S356F	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	356	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				TTCAGACGGTCCTCCTATCTT	0.438		NaN											0	0	0	0.001984	0	7	139				
CCDC9	26093	broad.mit.edu	37	19	47773894	47773894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:47773894G>C	uc010xym.1	+	10	1241	c.1034G>C	c.(1033-1035)AGA>ACA	p.R345T		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	345	Poly-Arg.										0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCAGAAGGAGAAAG	0.672		NaN											0	0	0	0.000602	0	5	49				
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50370408T>C	uc002pqh.2	-	1	106	c.54A>G	c.(52-54)GGA>GGG	p.G18G	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.G18G|PNKP_uc010enm.2_Silent_p.G18G|PNKP_uc002pqk.2_Silent_p.G18G	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	18				G -> E (in Ref. 1; AAD51135).	DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711		NaN						Other_BER_factors					0	0	0	0.010729	0	10	22				
MYBPC2	4606	broad.mit.edu	37	19	50947074	50947074	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50947074G>A	uc002psf.2	+	11	1184	c.1133_splice	c.e11+1	p.W378_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGTGGTAAGTGACCC	0.512		NaN											0	0	0	0.01441	0	50	61				
CD33	945	broad.mit.edu	37	19	51728804	51728804	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:51728804G>T	uc002pwa.2	+	2	408	c.368G>T	c.(367-369)GGA>GTA	p.G123V	CD33_uc010eos.1_Missense_Mutation_p.G123V|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	123	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGGAGAGAGGAAGTACCAAA	0.527		NaN											1	0	2.27111e-07	0.013537	2.55102e-07	13	52				
ZSCAN5B	342933	broad.mit.edu	37	19	56701308	56701308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:56701308C>T	uc010ygh.1	-	4	1376	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	459	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGAGTGGGTGCGCTGGTGAAC	0.537		NaN											0	0	0	0.00278	0	25	24				
PEG3	5178	broad.mit.edu	37	19	57335683	57335683	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:57335683C>G	uc002qnu.2	-	1	692	c.341G>C	c.(340-342)TGT>TCT	p.C114S	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.C114S|PEG3_uc002qnv.2_Missense_Mutation_p.C114S|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.C114S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	114	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCACAGTTCTCCGG	0.532		NaN											0	0	0	0.001984	0	7	94				
ASAP2	8853	broad.mit.edu	37	2	9475228	9475228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:9475228C>G	uc002qzh.2	+	9	1109	c.769C>G	c.(769-771)CAG>GAG	p.Q257E	ASAP2_uc002qzi.2_Missense_Mutation_p.Q257E	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	257	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						AAAGATCAAACAGGCCCAGGA	0.413		NaN											0	0	0	0.008291	0	9	40				
OTOF	9381	broad.mit.edu	37	2	26702466	26702466	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:26702466C>T	uc002rhk.2	-	17	2095	c.1968G>A	c.(1966-1968)CGG>CGA	p.R656R	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	656	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGCTCCTTCCGGGGCCGAG	0.627		NaN											0	0	0	0.006214	0	8	21				
ABHD1	84696	broad.mit.edu	37	2	27351315	27351315	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:27351315C>A	uc002rit.2	+	2	281	c.121C>A	c.(121-123)CGG>AGG	p.R41R	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	41						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGGCCTCGGCTGGTGGC	0.602		NaN											1	0	3.27435e-08	0.00245	3.71959e-08	14	50				
XDH	7498	broad.mit.edu	37	2	31560610	31560610	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:31560610C>G	uc002rnv.1	-	35	3927	c.3848G>C	c.(3847-3849)CGA>CCA	p.R1283P		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1283					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGCTGAGCTCGAGCTGCACG	0.577		NaN											0	0	0	0.003163	0	16	36				
BIRC6	57448	broad.mit.edu	37	2	32740790	32740790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:32740790C>G	uc010ezu.2	+	55	11436	c.11302C>G	c.(11302-11304)CTA>GTA	p.L3768V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3768					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCGTTCTTTCTACAGTGCAT	0.393		NaN											0	0	0	0.003163	0	16	35				
ABCG5	64240	broad.mit.edu	37	2	44051155	44051155	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:44051155G>C	uc002rtn.2	-	9	1361	c.1221C>G	c.(1219-1221)GTC>GTG	p.V407V	ABCG5_uc002rtm.2_Silent_p.V12V|ABCG5_uc002rto.2_Silent_p.V236V|ABCG5_uc002rtp.2_Silent_p.V12V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	407	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATTGCTTCGGACCCGCAGAA	0.512		NaN											0	0	0	0.00499	0	17	51				
CCDC85A	114800	broad.mit.edu	37	2	56603022	56603022	+	Silent	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:56603022A>G	uc002rzn.2	+	5	2026	c.1524A>G	c.(1522-1524)GGA>GGG	p.G508G		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	508										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTCAGTGGACATGCCACAC	0.458		NaN											0	0	0	0.001168	0	6	27				
CD207	50489	broad.mit.edu	37	2	71058238	71058238	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:71058238T>C	uc002shg.2	-	6	977	c.930A>G	c.(928-930)CCA>CCG	p.P310P		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	310	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TTTTGTCACATGGGGCATCAT	0.493		NaN											0	0	0	0.001984	0	6	38				
NPHP1	4867	broad.mit.edu	37	2	110881615	110881615	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:110881615G>C	uc002tfn.3	-	20	2046	c.1952C>G	c.(1951-1953)ACG>AGG	p.T651R	NPHP1_uc002tfm.3_Missense_Mutation_p.T596R|NPHP1_uc002tfl.3_Missense_Mutation_p.T652R|NPHP1_uc002tfo.3_Missense_Mutation_p.T533R|NPHP1_uc010ywx.1_Missense_Mutation_p.T595R	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	651					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						CAGGAGAAACGTGGACTTCAG	0.458		NaN											0	0	0	0.001984	0	7	85				
FBLN7	129804	broad.mit.edu	37	2	112944892	112944892	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:112944892G>T	uc002tho.1	+	8	1400	c.1129G>T	c.(1129-1131)GGT>TGT	p.G377C	FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Missense_Mutation_p.G331C|FBLN7_uc010fkj.1_Missense_Mutation_p.G243C	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	377					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGGGATCGTGGGTGGGAACAG	0.642		NaN											1	0	3.86212e-05	0.008291	4.1632e-05	10	115				
RAB3GAP1	22930	broad.mit.edu	37	2	135884205	135884205	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:135884205G>A	uc002tuj.2	+	11	977	c.952G>A	c.(952-954)GAG>AAG	p.E318K	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E318K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E143K|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	318						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGAAAAGCTGAGAATCCTCA	0.368		NaN											0	0	0	0.012213	0	33	80				
THSD7B	80731	broad.mit.edu	37	2	138414501	138414501	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:138414501G>T	uc002tva.1	+	22	4154	c.4154G>T	c.(4153-4155)AGC>ATC	p.S1385I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCAAGACAGCTGCCCCCAA	0.433		NaN											1	0	3.83957e-06	0.00278	4.22986e-06	21	91				
SCN1A	6323	broad.mit.edu	37	2	166896082	166896082	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:166896082C>T	uc010zcz.1	-	14	2425	c.2407G>A	c.(2407-2409)GAA>AAA	p.E803K	SCN1A_uc002udo.3_Missense_Mutation_p.E683K|SCN1A_uc010fpk.2_Missense_Mutation_p.E655K	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	814	Helical; Name=S2 of repeat II; (By similarity).|II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAAACATTTCTGCTGTAAAG	0.333		NaN											0	0	0	0.001168	0	5	19				
NFE2L2	4780	broad.mit.edu	37	2	178095532	178095532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:178095532G>C	uc002ulh.3	-	5	2354	c.1799C>G	c.(1798-1800)CCA>CGA	p.P600R	NFE2L2_uc002ulg.3_Missense_Mutation_p.P584R|NFE2L2_uc010zfa.1_Missense_Mutation_p.P577R|NFE2L2_uc002uli.3_Missense_Mutation_p.P584R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	600					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTAACATCTGGCTTCTTACT	0.368		NaN	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			0	0	0	0.006214	0	10	97		Valid		
DFNB59	494513	broad.mit.edu	37	2	179323266	179323266	+	Silent	SNP	G	G	A	rs138967124	by1000genomes	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179323266G>A	uc002umi.3	+	5	935	c.579G>A	c.(577-579)AAG>AAA	p.K193K	DFNB59_uc002umj.3_Silent_p.K193K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	193					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGAATCCCAAGGGAAGGGACA	0.353		NaN											0	0	0	0.004482	0	9	81				
TTN	7273	broad.mit.edu	37	2	179413895	179413895	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179413895T>A	uc010zfg.1	-	288	84978	c.84754A>T	c.(84754-84756)AAC>TAC	p.N28252Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21947Y|TTN_uc010zfi.1_Missense_Mutation_p.N21880Y|TTN_uc010zfj.1_Missense_Mutation_p.N21755Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29179							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGGGTTGACGGGCTCT	0.463		NaN											0	0	0	0.001168	0	5	44				
TTN	7273	broad.mit.edu	37	2	179613062	179613062	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179613062C>T	uc002unb.2	-	46	14289	c.14065G>A	c.(14065-14067)GAG>AAG	p.E4689K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTTCTCCACCATAGTT	0.318		NaN											0	0	0	0.013114	0	47	63				
TTN	7273	broad.mit.edu	37	2	179616411	179616411	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179616411G>T	uc002unb.2	-	46	10940	c.10716C>A	c.(10714-10716)GAC>GAA	p.D3572E	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCTCTGTCTTGGACCC	0.403		NaN											1	0	6.94344e-10	0.006122	8.04717e-10	19	104				
C2orf47	79568	broad.mit.edu	37	2	200820940	200820940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:200820940G>A	uc002uvm.2	+	2	741	c.419G>A	c.(418-420)AGC>AAC	p.S140N	C2orf60_uc002uvj.3_5'Flank|C2orf60_uc002uvi.3_5'Flank|C2orf60_uc002uvk.3_5'Flank|C2orf60_uc010fss.2_5'Flank|C2orf60_uc002uvl.2_5'Flank	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN	hypothetical protein LOC79568 precursor	140						mitochondrion					0						AAAGAGTTCAGCATCACAGAG	0.448		NaN											0	0	0	0.00632	0	27	84				
TRAF3IP1	26146	broad.mit.edu	37	2	239234477	239234477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:239234477C>T	uc002vye.2	+	3	339	c.220C>T	c.(220-222)CAA>TAA	p.Q74*	TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.Q74*	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	74	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TAGCTTCCTACAAAAGGCCAT	0.423		NaN											0	0	0	0.001855	0	12	53				
VPS16	64601	broad.mit.edu	37	20	2842542	2842542	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:2842542C>A	uc002whe.2	+	10	1039	c.991C>A	c.(991-993)CCA>ACA	p.P331T	VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	331					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GCATGAGGTTCCAGGTGAGGC	0.612		NaN											1	0	5.18039e-06	0.00308	5.69133e-06	7	22				
C20orf103	24141	broad.mit.edu	37	20	9496203	9496203	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:9496203G>C	uc002wni.1	+	2	397	c.168G>C	c.(166-168)ACG>ACC	p.T56T	C20orf103_uc010zrc.1_Silent_p.T56T	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	chromosome 20 open reading frame 103 precursor	56	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3			COAD - Colon adenocarcinoma(9;0.194)			ATGGGACGACGTGTCTCATGG	0.458		NaN											0	0	0	0.010729	0	12	112				
ANKRD5	63926	broad.mit.edu	37	20	10030184	10030184	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:10030184C>G	uc002wno.2	+	7	1360	c.967C>G	c.(967-969)CCA>GCA	p.P323A	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P323A|ANKRD5_uc010gbz.2_Missense_Mutation_p.P134A	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	323							calcium ion binding			ovary(1)|breast(1)	2						AAATCCAAATCCACTGTGGGC	0.517		NaN											0	0	0	0.001984	0	7	80				
RIN2	54453	broad.mit.edu	37	20	19977359	19977359	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:19977359C>G	uc002wro.1	+	10	2273	c.2237C>G	c.(2236-2238)TCT>TGT	p.S746C	RIN2_uc010gcu.1_Missense_Mutation_p.S313C|RIN2_uc010gcv.1_Missense_Mutation_p.S540C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	746	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GGAGCACTTTCTCTGATAAAG	0.527		NaN											0	0	0	0.000602	0	5	28				
NINL	22981	broad.mit.edu	37	20	25484683	25484683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:25484683C>T	uc002wux.1	-	7	840	c.766G>A	c.(766-768)GAG>AAG	p.E256K	NINL_uc010gdn.1_Missense_Mutation_p.E256K|NINL_uc010gdo.1_Missense_Mutation_p.E96K|NINL_uc010ztf.1_Missense_Mutation_p.E272K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	256	Potential.|EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGGAATTCCTCAAGACTCACT	0.498		NaN											0	0	0	0.009535	0	33	113				
MYLK2	85366	broad.mit.edu	37	20	30419638	30419638	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419638C>T	uc002wwq.2	+	11	1659	c.1557C>T	c.(1555-1557)AAC>AAT	p.N519N	MYLK2_uc002wws.2_Silent_p.N136N|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	519	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTCTCCAACCTCATCGTCA	0.517		NaN											0	0	0	0.00308	0	7	75				
MYLK2	85366	broad.mit.edu	37	20	30419888	30419888	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419888C>T	uc002wwq.2	+	12	1761	c.1659C>T	c.(1657-1659)CGC>CGT	p.R553R	MYLK2_uc002wws.2_Silent_p.R170R|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	553					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTAACCGACGCCTTAAGTCCC	0.592		NaN											0	0	0	0.001984	0	7	12				
SUN5	140732	broad.mit.edu	37	20	31573573	31573573	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31573573A>T	uc002wyi.2	-	11	959	c.866T>A	c.(865-867)CTG>CAG	p.L289Q		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	289	SUN.				spermatogenesis					skin(1)	1						GGCGGTGTCCAGGCTGCCTGA	0.562		NaN											0	0	0	0.009096	0	4	40				
C20orf185	359710	broad.mit.edu	37	20	31644371	31644371	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31644371G>A	uc002wym.1	+	2	148	c.148G>A	c.(148-150)GAG>AAG	p.E50K		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	50	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						ACTGGTTGGGGAGCCCATTCT	0.607		NaN											0	0	0	0.00874	0	43	73				
DLGAP4	22839	broad.mit.edu	37	20	35064619	35064619	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:35064619C>T	uc002xff.2	+	4	1542	c.1107C>T	c.(1105-1107)TAC>TAT	p.Y369Y	DLGAP4_uc010zvp.1_Silent_p.Y369Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	369					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCGGCAGCTACATCAAGGCCA	0.736		NaN											0	0	0	0.004672	0	3	11				
KIAA0406	9675	broad.mit.edu	37	20	36641207	36641207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:36641207C>A	uc002xhl.2	-	3	1221	c.1012G>T	c.(1012-1014)GGA>TGA	p.G338*	KIAA0406_uc002xhm.2_Nonsense_Mutation_p.G338*	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	338							binding				0		Myeloproliferative disorder(115;0.00874)				TTTACTAGTCCCACTAAGGCC	0.468		NaN											1	0	4.22769e-11	0.00632	4.95703e-11	28	170				
CHD6	84181	broad.mit.edu	37	20	40049171	40049171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40049171C>G	uc002xka.1	-	31	6282	c.6104G>C	c.(6103-6105)AGA>ACA	p.R2035T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2035					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTTTCCGTCTCTATCATAATC	0.433		NaN											0	0	0	0.006122	0	18	89				
CHD6	84181	broad.mit.edu	37	20	40052303	40052303	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40052303C>T	uc002xka.1	-	30	4562	c.4384G>A	c.(4384-4386)GTG>ATG	p.V1462M		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1462					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAGGAAGACACTGTTCTATAG	0.408		NaN											0	0	0	0.013537	0	12	167				
SEMG2	6407	broad.mit.edu	37	20	43851768	43851768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:43851768G>A	uc010ggz.2	+	2	1552	c.1495G>A	c.(1495-1497)GAA>AAA	p.E499K	SEMG2_uc002xnk.2_Missense_Mutation_p.E499K|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	499	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TTTCCAAATTGAAAAGCTAGT	0.398		NaN											0	0	0	0.001168	0	6	77				
WFDC13	164237	broad.mit.edu	37	20	44330835	44330835	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44330835A>C	uc002xpd.2	+	1	181	c.73A>C	c.(73-75)AAG>CAG	p.K25Q	WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13 precursor	25						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TGGGAGTCCCAAGCAGCGTGT	0.562		NaN											0	0	0	0.009096	0	4	22				
PCIF1	63935	broad.mit.edu	37	20	44574444	44574444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44574444G>C	uc002xqs.2	+	12	1577	c.1263G>C	c.(1261-1263)ATG>ATC	p.M421I	PCIF1_uc002xqt.2_Missense_Mutation_p.M1I|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	421						nucleus				skin(1)	1						GCGTGGAGATGCACATGGAGA	0.612		NaN											0	0	0	0.006214	0	9	105				
KCNB1	3745	broad.mit.edu	37	20	47990502	47990502	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:47990502A>C	uc002xur.1	-	2	1759	c.1595T>G	c.(1594-1596)ATG>AGG	p.M532R	KCNB1_uc002xus.1_Missense_Mutation_p.M532R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	532	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTATTGTACATGTCTTCCAA	0.468		NaN											0	0	0	0.00499	0	18	201				
BCAS4	55653	broad.mit.edu	37	20	49493030	49493030	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:49493030C>G	uc002xvq.2	+	6	658	c.594C>G	c.(592-594)ACC>ACG	p.T198T	BCAS4_uc002xvr.2_Missense_Mutation_p.P166R|BCAS4_uc002xvs.2_Missense_Mutation_p.P121R	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4 isoform a	198						cytoplasm					0						CAGAAGTCACCTGCACCGGTG	0.557		NaN											0	0	0	0.004007	0	16	107				
UCKL1	54963	broad.mit.edu	37	20	62575994	62575994	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:62575994C>T	uc010gkn.2	-	6	791	c.748G>A	c.(748-750)GAG>AAG	p.E250K	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.E235K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	250					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACACCCTCGATGTCCCGG	0.602		NaN											0	0	0	0.001984	0	6	29				
ADAMTS5	11096	broad.mit.edu	37	21	28304481	28304481	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:28304481C>T	uc002ymg.2	-	6	2620	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TCACACTGTTCATGACGAAAT	0.363		NaN											0	0	0	0.001984	0	7	37				
KRTAP27-1	643812	broad.mit.edu	37	21	31709409	31709409	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:31709409T>C	uc002ynx.1	-	1	604	c.578A>G	c.(577-579)GAA>GGA	p.E193G		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament				ovary(2)	2						GCAAGTTGGTTCAACTCCTGG	0.438		NaN											0	0	0	0.00308	0	8	52				
SIM2	6493	broad.mit.edu	37	21	38098555	38098555	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:38098555C>T	uc002yvr.2	+	6	735	c.679C>T	c.(679-681)CTG>TTG	p.L227L	SIM2_uc002yvq.2_Silent_p.L227L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	227	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						CGAGATCAAGCTGTACAGTAA	0.567		NaN											0	0	0	0.00308	0	7	40				
MCM3AP	8888	broad.mit.edu	37	21	47695171	47695171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:47695171C>G	uc002zir.1	-	6	1963	c.1927G>C	c.(1927-1929)GAG>CAG	p.E643Q		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	643					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CTCTCCTTCTCAGGACACATA	0.537		NaN											0	0	0	0.000602	0	5	17				
CLDN5	7122	broad.mit.edu	37	22	19511148	19511148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:19511148C>T	uc002zpu.2	-	2	1101	c.886G>A	c.(886-888)GAC>AAC	p.D296N	CLDN5_uc010grr.2_Missense_Mutation_p.D296N	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	211	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					TTGTCGTAGTCGCCGGTGGCC	0.716		NaN											0	0	0	0.009096	0	4	29				
CYTSA	23384	broad.mit.edu	37	22	24717999	24717999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:24717999G>A	uc002zzw.2	+	5	1358	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K	CYTSA_uc002zzv.3_Missense_Mutation_p.E351K|CYTSA_uc011ajq.1_Missense_Mutation_p.E351K	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	351					cell cycle|cell division						0						TGAGTGCAGTGAGGTCTACCA	0.547		NaN											0	0	0	0.013537	0	13	66				
NIPSNAP1	8508	broad.mit.edu	37	22	29966393	29966393	+	Splice_Site	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:29966393C>A	uc003afx.3	-	2	299	c.226_splice	c.e2+1	p.F76_splice	NIPSNAP1_uc011akp.1_Splice_Site_p.F56_splice	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1									p.?(1)		skin(1)	1						CAGCCACTCACACTGGATCTT	0.567		NaN											1	0	0.000157383	0.00308	0.000168295	7	36				
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:30980647G>C	uc003aij.1	-	5	500	c.426C>G	c.(424-426)TTC>TTG	p.F142L	PES1_uc003aik.1_Missense_Mutation_p.F142L|PES1_uc003ail.1_Missense_Mutation_p.F142L|PES1_uc003aim.1_Missense_Mutation_p.F142L|PES1_uc003ain.1_Missense_Mutation_p.F3L|PES1_uc003aio.1_Missense_Mutation_p.F3L	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	142	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TGGAAAACAGGAAGCACATGG	0.607		NaN											0	0	0	0.009096	0	4	27				
PISD	23761	broad.mit.edu	37	22	32044244	32044244	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:32044244G>C	uc003alm.3	-	3	171	c.164C>G	c.(163-165)ACT>AGT	p.T55S	PISD_uc003aln.3_Missense_Mutation_p.T55S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	55					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GGCAGGGGCAGTGTGGATTTT	0.527		NaN											0	0	0	0.000602	0	5	3				
TOM1	10043	broad.mit.edu	37	22	35723369	35723369	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:35723369G>A	uc003ann.2	+	7	879	c.754G>A	c.(754-756)GAG>AAG	p.E252K	TOM1_uc011ami.1_Missense_Mutation_p.E219K|TOM1_uc011amj.1_Missense_Mutation_p.E95K|TOM1_uc003ans.2_Missense_Mutation_p.E95K|TOM1_uc011amk.1_Missense_Mutation_p.E214K|TOM1_uc003anp.2_Missense_Mutation_p.E252K|TOM1_uc011aml.1_Missense_Mutation_p.E207K|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E246K|TOM1_uc003anr.2_Missense_Mutation_p.E95K	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	252	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CGCAGACCTGGAGCTGCTGCA	0.622		NaN											0	0	0	0.009096	0	3	22				
TRIOBP	11078	broad.mit.edu	37	22	38120564	38120564	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:38120564C>G	uc003atr.2	+	7	2272	c.2001C>G	c.(1999-2001)ATC>ATG	p.I667M	TRIOBP_uc003atu.2_Missense_Mutation_p.I495M|TRIOBP_uc003atq.1_Missense_Mutation_p.I667M|TRIOBP_uc003ats.1_Missense_Mutation_p.I495M	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	667					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ACAGAACCATCCAACAAGAGA	0.572		NaN											0	0	0	0.006122	0	18	47				
ARPC4	10093	broad.mit.edu	37	3	9845628	9845628	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:9845628G>C	uc003bsz.1	+	5	1011	c.432G>C	c.(430-432)AAG>AAC	p.K144N	ARPC4_uc003bta.1_Missense_Mutation_p.K54N|ARPC4_uc003btb.1_Missense_Mutation_p.K54N|ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron	NM_005718	NP_005709	P59998	ARPC4_HUMAN	actin related protein 2/3 complex subunit 4	144					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					AGATTGACAAGGAGATCAGTG	0.468		NaN											0	0	0	0.001855	0	14	122				
ATP2B2	491	broad.mit.edu	37	3	10419989	10419989	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10419989T>C	uc003bvt.2	-	10	1587	c.1148A>G	c.(1147-1149)AAG>AGG	p.K383R	ATP2B2_uc003bvv.2_Missense_Mutation_p.K338R|ATP2B2_uc003bvw.2_Missense_Mutation_p.K338R|ATP2B2_uc010hdo.2_Missense_Mutation_p.K88R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	383	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CAGCACGGACTTCTCCTTCTT	0.607		NaN											0	0	0	0.00308	0	8	66				
SLC6A11	6538	broad.mit.edu	37	3	10858095	10858095	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10858095G>A	uc003bvz.2	+	1	179	c.145G>A	c.(145-147)GAG>AAG	p.E49K	SLC6A11_uc003bvy.1_Missense_Mutation_p.E49K	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	49	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGCGGTCCACGAGCGCGGCCA	0.557		NaN											0	0	0	0.004672	0	3	13				
ZNF502	91392	broad.mit.edu	37	3	44763523	44763523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:44763523G>A	uc011baa.1	+	4	1469	c.1214G>A	c.(1213-1215)AGA>AAA	p.R405K	ZNF502_uc003cns.2_Missense_Mutation_p.R405K|ZNF502_uc011bab.1_Missense_Mutation_p.R405K|ZNF502_uc003cnt.2_Missense_Mutation_p.R405K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAGGGGAGAGACCCTACAAA	0.413		NaN											0	0	0	0.003163	0	16	30				
SLC6A20	54716	broad.mit.edu	37	3	45812892	45812892	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:45812892G>C	uc011bai.1	-	6	876	c.752C>G	c.(751-753)TCA>TGA	p.S251*	SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Nonsense_Mutation_p.S214*	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	251	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAGGCCAAGTGAGAAGAAGAT	0.587		NaN											0	0	0	0.008291	0	11	30				
CSPG5	10675	broad.mit.edu	37	3	47604194	47604194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:47604194C>A	uc003crp.3	-	5	1773	c.1597G>T	c.(1597-1599)GAG>TAG	p.E533*	CSPG5_uc003crm.2_RNA|CSPG5_uc003crn.2_Nonsense_Mutation_p.E368*|CSPG5_uc003cro.3_Nonsense_Mutation_p.E506*|CSPG5_uc011bbb.1_Nonsense_Mutation_p.E395*	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	533	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTCCTCCTCTTTCAGG	0.488		NaN											1	0	3.32936e-07	0.006122	3.71887e-07	19	78				
SEMA3F	6405	broad.mit.edu	37	3	50197151	50197151	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50197151C>T	uc003cyj.2	+	2	294	c.96C>T	c.(94-96)GTC>GTT	p.V32V	SEMA3F_uc003cyk.2_Silent_p.V32V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	32	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGCCCCGGGTCCGGCTCTCAT	0.587		NaN											0	0	0	0.000602	0	5	22				
SEMA3B	7869	broad.mit.edu	37	3	50311844	50311844	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50311844C>A	uc003cyu.2	+	13	1430	c.1188C>A	c.(1186-1188)GAC>GAA	p.D396E	SEMA3B_uc003cyt.2_Missense_Mutation_p.D395E|SEMA3B_uc003cyv.2_Missense_Mutation_p.D283E|SEMA3B_uc003cyw.2_Missense_Mutation_p.D119E|SEMA3B_uc010hli.2_Missense_Mutation_p.D288E|SEMA3B_uc003cyx.2_Missense_Mutation_p.D282E|SEMA3B_uc003cyy.2_Missense_Mutation_p.D53E|SEMA3B_uc011bdo.1_Missense_Mutation_p.D53E	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	396	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTTCCCAGACGATGTCATCC	0.572		NaN									OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.9806e-07	0.014323	2.23095e-07	21	76				
DNAH1	25981	broad.mit.edu	37	3	52400859	52400859	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:52400859G>T	uc011bef.1	+	36	5982	c.5721G>T	c.(5719-5721)ACG>ACT	p.T1907T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1907	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCCATCACGATGGGCCAGC	0.607		NaN											1	0	5.16669e-11	0.010729	6.02279e-11	9	59				
ARL13B	200894	broad.mit.edu	37	3	93699277	93699277	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:93699277C>G	uc003drc.2	+	1	296	c.10C>G	c.(10-12)CTG>GTG	p.L4V	ARL13B_uc010hop.2_5'UTR|ARL13B_uc003drd.2_Missense_Mutation_p.L4V|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.L4V|ARL13B_uc003drg.2_5'UTR	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	4							GTP binding				0						GATGTTCAGTCTGATGGCCAG	0.692		NaN											0	0	0	0.004007	0	13	74				
PARP14	54625	broad.mit.edu	37	3	122420202	122420202	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122420202T>G	uc003efq.3	+	6	2860	c.2801T>G	c.(2800-2802)GTG>GGG	p.V934G	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V651G|PARP14_uc003efs.1_Missense_Mutation_p.V651G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	934	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GGCCGATGCGTGGAGACCATT	0.448		NaN											0	0	0	0.004482	0	8	51				
HSPBAP1	79663	broad.mit.edu	37	3	122459597	122459597	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122459597C>A	uc003efu.1	-	8	1185	c.1062G>T	c.(1060-1062)ATG>ATT	p.M354I	HSPBAP1_uc003eft.1_Missense_Mutation_p.M65I	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	354						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCTTTTTCATGTGCTCTC	0.458		NaN											1	0	1.33834e-09	0.007413	1.54661e-09	17	236				
MYLK	4638	broad.mit.edu	37	3	123451827	123451827	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123451827G>C	uc003ego.2	-	11	1714	c.1432C>G	c.(1432-1434)CGG>GGG	p.R478G	MYLK_uc011bjw.1_Missense_Mutation_p.R478G|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Missense_Mutation_p.R478G|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Missense_Mutation_p.R302G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	478	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCCTGGTCCGGGCTTTCAGC	0.577		NaN											0	0	0	0.001984	0	6	44				
ROPN1	54763	broad.mit.edu	37	3	123688915	123688915	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123688915C>A	uc003eha.2	-	6	887	c.546G>T	c.(544-546)AGG>AGT	p.R182S		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	ropporin	182					signal transduction		cAMP-dependent protein kinase regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AGTTTAGCATCCTGCTGACAT	0.453		NaN											1	0	1.76689e-08	0.006214	2.02436e-08	10	98				
KALRN	8997	broad.mit.edu	37	3	124209673	124209673	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:124209673G>A	uc003ehg.2	+	30	4650	c.4523G>A	c.(4522-4524)AGC>AAC	p.S1508N	KALRN_uc010hrv.1_Missense_Mutation_p.S1499N|KALRN_uc003ehf.1_Missense_Mutation_p.S1508N|KALRN_uc011bjy.1_Missense_Mutation_p.S1499N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1508	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TTGGTTTTTAGCAAGGAGATC	0.498		NaN											0	0	0	0.003954	0	26	54				
OSBPL11	114885	broad.mit.edu	37	3	125250824	125250824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:125250824C>T	uc003eic.2	-	12	2796	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	687					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						ATTTCAGATTCTCTCAGCGAG	0.393		NaN											0	0	0	0.00499	0	16	72				
A4GNT	51146	broad.mit.edu	37	3	137843555	137843555	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:137843555T>A	uc003ers.2	-	3	776	c.574A>T	c.(574-576)AAT>TAT	p.N192Y		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	192	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						AATATTCCATTACTAGAGTAC	0.498		NaN											0	0	0	0.006214	0	8	89				
RARRES1	5918	broad.mit.edu	37	3	158428666	158428666	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:158428666G>C	uc003fci.2	-	3	467	c.396C>G	c.(394-396)TTC>TTG	p.F132L	RARRES1_uc003fcj.2_Missense_Mutation_p.F132L	NM_206963	NP_996846	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene	132	Extracellular (Potential).				negative regulation of cell proliferation	integral to membrane					0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCTGATTCTTGAAAAACACTC	0.428		NaN											0	0	0	0.01441	0	48	123				
SEC62	7095	broad.mit.edu	37	3	169710730	169710730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:169710730G>A	uc003fgg.2	+	8	1110	c.1079G>A	c.(1078-1080)GGA>GAA	p.G360E	SEC62_uc003fgh.2_Missense_Mutation_p.G360E	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	360	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						AGTGGAAATGGAAATGATTTT	0.458		NaN											0	0	0	0.009096	0	4	39				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.004007	0	15	52		Valid		
MCF2L2	23101	broad.mit.edu	37	3	183029466	183029466	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:183029466T>A	uc003fli.1	-	8	938	c.848A>T	c.(847-849)AAC>ATC	p.N283I	MCF2L2_uc003flj.1_Missense_Mutation_p.N283I|MCF2L2_uc003flp.1_Missense_Mutation_p.N318I|MCF2L2_uc011bqs.1_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	283					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAAGTTGGTTGAGATTGAG	0.438		NaN											0	0	0	0.012213	0	35	72				
AHSG	197	broad.mit.edu	37	3	186335076	186335076	+	Silent	SNP	C	C	T	rs78152999	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:186335076C>T	uc003fqk.3	+	4	591	c.510C>T	c.(508-510)GCC>GCT	p.A170A	AHSG_uc003fqj.2_Silent_p.A170A|AHSG_uc003fql.3_Silent_p.A171A|AHSG_uc003fqm.3_Silent_p.A169A|AHSG_uc010hyp.2_Silent_p.A133A	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	170	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCTGGCCGCCTTCAACGCTC	0.592		NaN									OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.006214	0	10	83				
ATP13A5	344905	broad.mit.edu	37	3	193007837	193007837	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:193007837G>C	uc011bsq.1	-	26	2860	c.2860C>G	c.(2860-2862)CAT>GAT	p.H954D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	954	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGTAGGCATGAGTTGAACTC	0.383		NaN											0	0	0	0.001984	0	6	64				
KDR	3791	broad.mit.edu	37	4	55961065	55961065	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:55961065G>C	uc003has.2	-	21	3177	c.2875C>G	c.(2875-2877)CTG>GTG	p.L959V	KDR_uc003hat.1_Missense_Mutation_p.L959V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	959	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGTTTCAGATCCACAGGG	0.478		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	0.010729	0	12	61				
HTN1	3346	broad.mit.edu	37	4	70920139	70920139	+	Missense_Mutation	SNP	G	G	A	rs78945345		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:70920139G>A	uc003hex.2	+	4	141	c.74G>A	c.(73-75)AGA>AAA	p.R25K		NM_002159	NP_002150	P15515	HIS1_HUMAN	histatin 1 precursor	25					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			skin(1)	1						ATTTCATAGAGACATCATGGG	0.289		NaN											0	0	0	0.001168	0	6	15				
GRIA2	2891	broad.mit.edu	37	4	158283999	158283999	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:158283999A>G	uc003ipm.3	+	15	2914	c.2455A>G	c.(2455-2457)ATC>GTC	p.I819V	GRIA2_uc011cit.1_Missense_Mutation_p.I772V|GRIA2_uc003ipl.3_Missense_Mutation_p.I819V|GRIA2_uc003ipk.3_Missense_Mutation_p.I772V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	819	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGTATTCTACATCCTTGTCGG	0.468		NaN											0	0	0	0.001984	0	7	51				
VEGFC	7424	broad.mit.edu	37	4	177713384	177713384	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:177713384C>G	uc003ius.1	-	1	512	c.82G>C	c.(82-84)GCC>CCC	p.A28P		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	28					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		gcggcggcggcggcgggcgcc	0.562		NaN											0	0	0	0.004672	0	3	14				
FAT1	2195	broad.mit.edu	37	4	187524560	187524560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:187524560G>T	uc003izf.2	-	19	11308	c.11120C>A	c.(11119-11121)TCA>TAA	p.S3707*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3707	Extracellular (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGTTTTGTTGAGATCTGAGC	0.433		NaN								HNSCC(5;0.00058)			1	0	1.58986e-06	0.008291	1.76115e-06	10	28				
TAS2R1	50834	broad.mit.edu	37	5	9629419	9629419	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:9629419C>A	uc003jem.1	-	1	1045	c.726G>T	c.(724-726)ATG>ATT	p.M242I		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	242	Helical; Name=6; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						AAACTTTTATCATGCAGTGGG	0.478		NaN											1	0	4.68919e-08	0.008291	5.31177e-08	10	50				
TRIO	7204	broad.mit.edu	37	5	14399063	14399063	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:14399063T>G	uc003jff.2	+	30	4504	c.4498T>G	c.(4498-4500)TTA>GTA	p.L1500V	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.L1451V|TRIO_uc003jfh.1_Missense_Mutation_p.L1149V	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1500	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CCCAAAAACCTTAATTCGAAA	0.408		NaN											0	0	0	0.004007	0	17	68				
CWC27	10283	broad.mit.edu	37	5	64314141	64314141	+	Missense_Mutation	SNP	G	G	C	rs143234808		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:64314141G>C	uc003jtn.1	+	14	1631	c.1412G>C	c.(1411-1413)AGA>ACA	p.R471T	CWC27_uc010iwt.1_3'UTR	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	471					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						AAAAAAGAAAGAAGATAAAAT	0.388		NaN											0	0	0	0.00245	0	14	44				
OCLN	4950	broad.mit.edu	37	5	68805240	68805240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:68805240G>A	uc003jwu.2	+	3	759	c.323G>A	c.(322-324)GGA>GAA	p.G108E	OCLN_uc003jwv.3_Missense_Mutation_p.G108E	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTATGGAGGAAGTGGCTTT	0.438		NaN											0	0	0	0.00499	0	18	96				
DMGDH	29958	broad.mit.edu	37	5	78359611	78359611	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:78359611C>G	uc003kfs.2	-	2	108	c.102_splice	c.e2-1	p.G34_splice	DMGDH_uc011ctf.1_Splice_Site|DMGDH_uc011ctg.1_Splice_Site	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor						choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTTCCTCTCTGGAAGAGGG	0.448		NaN											0	0	0	0.001855	0	13	54				
VCAN	1462	broad.mit.edu	37	5	82835422	82835422	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:82835422T>A	uc003kii.3	+	8	6956	c.6600T>A	c.(6598-6600)ACT>ACA	p.T2200T	VCAN_uc003kij.3_Silent_p.T1213T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T864T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2200	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTGAAGCTACTGAAAAGTCAC	0.368		NaN											0	0	0	0.004007	0	17	90				
AQPEP	206338	broad.mit.edu	37	5	115350145	115350145	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:115350145G>A	uc003kro.2	+	16	2535	c.2371G>A	c.(2371-2373)GCG>ACG	p.A791T	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	791	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						TTTTGTAACTGCGTGTTGGTT	0.358		NaN											0	0	0	0.000602	0	5	55				
SEPT8	23176	broad.mit.edu	37	5	132098183	132098183	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:132098183A>T	uc003kxr.2	-	5	927	c.689T>A	c.(688-690)GTC>GAC	p.V230D	SEPT8_uc003kxs.1_Missense_Mutation_p.V230D|SEPT8_uc003kxu.2_Missense_Mutation_p.V230D|SEPT8_uc011cxi.1_Missense_Mutation_p.V228D|SEPT8_uc003kxv.2_Missense_Mutation_p.V228D|SEPT8_uc003kxt.2_Missense_Mutation_p.V170D	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	230					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACATTCATGACTGCGTTAAT	0.577		NaN											0	0	0	0.006214	0	8	56				
C5orf24	134553	broad.mit.edu	37	5	134191113	134191113	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:134191113G>T	uc003kzx.2	+	2	584	c.523G>T	c.(523-525)GGG>TGG	p.G175W	C5orf24_uc003kzy.3_Intron|C5orf24_uc003kzz.2_Missense_Mutation_p.G175W	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	175											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGTTCATGGGGTAGAGGA	0.478		NaN											1	0	4.36969e-10	0.001855	5.07897e-10	14	49				
AFAP1L1	134265	broad.mit.edu	37	5	148695811	148695811	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:148695811G>C	uc003lqh.2	+	11	1343	c.1212G>C	c.(1210-1212)AAG>AAC	p.K404N	AFAP1L1_uc010jgy.2_Missense_Mutation_p.K404N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K19N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	404							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGAAGACACTGGCCG	0.612		NaN											0	0	0	0.001984	0	5	68				
CSF1R	1436	broad.mit.edu	37	5	149433917	149433917	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:149433917G>C	uc003lrl.2	-	20	2926	c.2731C>G	c.(2731-2733)CAG>GAG	p.Q911E	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q911E	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	911	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCTGCTCCTGAAGGAAGGAG	0.622		NaN											0	0	0	0.008871	0	19	35				
FAT2	2196	broad.mit.edu	37	5	150901299	150901299	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:150901299C>A	uc003lue.3	-	18	10868	c.10855G>T	c.(10855-10857)GTG>TTG	p.V3619L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3619	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627		NaN											1	0	0.000602214	0.000602	0.000635495	5	28				
RPL26L1	51121	broad.mit.edu	37	5	172396492	172396492	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:172396492G>C	uc003mcc.2	+	4	428	c.386G>C	c.(385-387)GGA>GCA	p.G129A		NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	129					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGACAAGTTGGAAAAGAGAAA	0.408		NaN											0	0	0	0.000602	0	5	95				
TRIM41	90933	broad.mit.edu	37	5	180661586	180661586	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:180661586G>A	uc003mne.1	+	6	2398	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Silent_p.T148T	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	568	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAACAGACGCTGCTGAGCC	0.632		NaN											0	0	0	0.000602	0	5	58				
PRL	5617	broad.mit.edu	37	6	22294754	22294754	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:22294754G>C	uc003ndp.2	-	2	607	c.88C>G	c.(88-90)CCC>GCC	p.P30A	PRL_uc003ndo.2_Missense_Mutation_p.P31A|PRL_uc003ndq.2_Missense_Mutation_p.P30A|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	30					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					GGACAGATGGGCAAGGGGGCC	0.592		NaN											0	0	0	0.009096	0	4	30				
C6orf10	10665	broad.mit.edu	37	6	32261017	32261017	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:32261017G>A	uc011dpy.1	-	12	1606	c.1433C>T	c.(1432-1434)TCA>TTA	p.S478L	C6orf10_uc011dpx.1_Intron	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	478	Lys-rich.					integral to membrane				skin(1)	1						TAGTACACCTGACTCACTCTT	0.338		NaN											0	0	0	0.00499	0	18	179				
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:33288742G>A	uc003oec.2	-	3	1014	c.810C>T	c.(808-810)CGC>CGT	p.R270R	DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	270					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						GCCGCTCAATGCGCCTGTTAA	0.597		NaN	Mis|F|N		Pancreatic neuroendocrine tumors								0	0	0	0.00623	0	41	59				
BRPF3	27154	broad.mit.edu	37	6	36168216	36168216	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:36168216G>A	uc003olv.3	+	2	341	c.117G>A	c.(115-117)CGG>CGA	p.R39R	BRPF3_uc010jwb.2_Silent_p.R39R|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.R39R	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	39					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						AGGCCCAGCGGATTGTCGAGG	0.572		NaN											0	0	0	0.009096	0	4	65				
PPP2R5D	5528	broad.mit.edu	37	6	42974675	42974675	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:42974675C>T	uc003oth.2	+	4	435	c.349C>T	c.(349-351)CTG>TTG	p.L117L	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.L85L|PPP2R5D_uc010jyd.2_Silent_p.L11L|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	117					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGGAGGAGCTGTTTATCCA	0.562		NaN											0	0	0	0.004656	0	24	151				
SLC35B2	347734	broad.mit.edu	37	6	44224183	44224183	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:44224183G>A	uc003oxd.2	-	3	392	c.256C>T	c.(256-258)CCC>TCC	p.P86S	SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	86					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGCCTTGGGCTCATTGCCA	0.577		NaN											0	0	0	0.008291	0	11	75				
CRISP2	7180	broad.mit.edu	37	6	49666126	49666126	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:49666126G>A	uc003ozq.2	-	7	622	c.366C>T	c.(364-366)GTC>GTT	p.V122V	CRISP2_uc003ozl.2_Silent_p.V122V|CRISP2_uc003ozn.2_Silent_p.V122V|CRISP2_uc003ozr.2_Silent_p.V122V|CRISP2_uc003ozo.2_Silent_p.V122V|CRISP2_uc003ozm.2_Silent_p.V122V|CRISP2_uc003ozp.2_Silent_p.V122V	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	122						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTACACCATAGACAAAATCTA	0.413		NaN											0	0	0	0.010729	0	11	69				
TTK	7272	broad.mit.edu	37	6	80746227	80746227	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:80746227C>G	uc003pjc.2	+	17	2034	c.1960C>G	c.(1960-1962)CTG>GTG	p.L654V	TTK_uc003pjb.3_Missense_Mutation_p.L653V	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	654	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGCTAACTTTCTGATAGTTGA	0.318		NaN											0	0	0	0.000602	0	5	59				
DOPEY1	23033	broad.mit.edu	37	6	83834892	83834892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:83834892G>C	uc003pjs.1	+	14	1723	c.1463G>C	c.(1462-1464)AGA>ACA	p.R488T	DOPEY1_uc011dyy.1_Missense_Mutation_p.R479T|DOPEY1_uc010kbl.1_Missense_Mutation_p.R479T	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	488					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTACTAGAAGTATGAGG	0.284		NaN											0	0	0	0.000602	0	4	34				
SIM1	6492	broad.mit.edu	37	6	100838763	100838763	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:100838763A>T	uc003pqj.3	-	11	1982	c.1775T>A	c.(1774-1776)CTG>CAG	p.L592Q	SIM1_uc010kcu.2_Missense_Mutation_p.L592Q	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	592	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGAAGCCAGTTGGTCTGA	0.468		NaN											0	0	0	0.00308	0	8	65				
C6orf170	221322	broad.mit.edu	37	6	121562637	121562637	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:121562637G>C	uc003pyo.1	-	19	2287	c.2219C>G	c.(2218-2220)GCA>GGA	p.A740G	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.A259G	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	740					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AATGCCACCTGCTGCTGTTGA	0.338		NaN											0	0	0	0.001168	0	6	27				
NKAIN2	154215	broad.mit.edu	37	6	124979332	124979332	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:124979332G>C	uc003pzo.2	+	4	551	c.274G>C	c.(274-276)GAA>CAA	p.E92Q	NKAIN2_uc003pzn.1_Missense_Mutation_p.E92Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.E91Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.E2Q	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	92		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		CTTCTTGCAGGAAACAGACCT	0.428		NaN											0	0	0	0.00308	0	8	38				
GRM1	2911	broad.mit.edu	37	6	146755219	146755219	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:146755219G>C	uc010khw.1	+	9	3342	c.2872G>C	c.(2872-2874)GAG>CAG	p.E958Q	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	958	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTACAACGTAGAGGAGGAGGA	0.582		NaN											0	0	0	0.010504	0	22	70				
TIAM2	26230	broad.mit.edu	37	6	155500249	155500249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:155500249C>T	uc003qqb.2	+	13	3873	c.2600C>T	c.(2599-2601)CCT>CTT	p.P867L	TIAM2_uc003qqe.2_Missense_Mutation_p.P867L|TIAM2_uc010kjj.2_Missense_Mutation_p.P400L|TIAM2_uc003qqf.2_Missense_Mutation_p.P243L|TIAM2_uc011efl.1_Missense_Mutation_p.P203L|TIAM2_uc003qqg.2_Missense_Mutation_p.P179L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	867	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATTGCATCCCTGCACCATAT	0.388		NaN											0	0	0	0.004007	0	15	51				
TCP1	6950	broad.mit.edu	37	6	160205738	160205738	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:160205738G>A	uc003qsr.2	-	6	865	c.630C>T	c.(628-630)CTC>CTT	p.L210L	TCP1_uc003qss.2_Silent_p.L55L|TCP1_uc010kjz.2_Silent_p.L210L|TCP1_uc003qst.2_Intron	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	210					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGCCACTGATGAGCATACTCT	0.413		NaN											0	0	0	0.006214	0	10	130				
MPP6	51678	broad.mit.edu	37	7	24663374	24663374	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:24663374G>C	uc003swx.2	+	3	387	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	MPP6_uc003swy.2_Missense_Mutation_p.E30Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	30	L27 1.				protein complex assembly		protein binding				0						GGGAATTATGGAGAATCCTAT	0.343		NaN											0	0	0	0.004482	0	7	36				
ABCA13	154664	broad.mit.edu	37	7	48312668	48312668	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:48312668C>A	uc003toq.2	+	17	3430	c.3405C>A	c.(3403-3405)GTC>GTA	p.V1135V	ABCA13_uc010kyr.2_Silent_p.V638V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1135					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGCAAATGTCAGTGTGTTCA	0.353		NaN											1	0	1.08611e-07	0.010729	1.22684e-07	12	27				
DTX2	113878	broad.mit.edu	37	7	76126675	76126675	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:76126675C>T	uc003uff.3	+	7	1587	c.1031C>T	c.(1030-1032)TCA>TTA	p.S344L	DTX2_uc011kgk.1_Missense_Mutation_p.S253L|DTX2_uc003ufg.3_Missense_Mutation_p.S344L|DTX2_uc003ufh.3_Missense_Mutation_p.S344L|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.S7L|DTX2_uc003ufm.3_5'Flank	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	344					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTTCTGATGTCAGCCATTGGA	0.577		NaN											0	0	0	0.004656	0	22	138				
ZNF498	221785	broad.mit.edu	37	7	99226951	99226951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:99226951G>C	uc003url.1	+	8	1270	c.943G>C	c.(943-945)GGT>CGT	p.G315R	ZNF498_uc003urm.1_Missense_Mutation_p.G151R|ZNF498_uc010lge.1_Missense_Mutation_p.G151R|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G243R|ZNF498_uc003uro.1_Missense_Mutation_p.G99R	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GCAGGAGCCTGGTGGCCCTGC	0.637		NaN											0	0	0	0.006214	0	9	56				
MUC17	140453	broad.mit.edu	37	7	100675897	100675897	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:100675897C>G	uc003uxp.1	+	3	1253	c.1200C>G	c.(1198-1200)GTC>GTG	p.V400V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	400	Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGCCTGTCAGCACCATAT	0.463		NaN											0	0	0	0.01441	0	101	235				
MET	4233	broad.mit.edu	37	7	116371801	116371801	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116371801T>G	uc003vij.2	+	3	1467	c.1280T>G	c.(1279-1281)GTT>GGT	p.V427G	MET_uc010lkh.2_Missense_Mutation_p.V427G|MET_uc011knc.1_Missense_Mutation_p.V427G|MET_uc011knd.1_Missense_Mutation_p.V427G|MET_uc011kne.1_Missense_Mutation_p.V427G|MET_uc011knf.1_Missense_Mutation_p.V427G|MET_uc011kng.1_Missense_Mutation_p.V427G|MET_uc011knh.1_Missense_Mutation_p.V427G|MET_uc011kni.1_Missense_Mutation_p.V427G|MET_uc011knj.1_5'UTR|MET_uc010lkg.2_Missense_Mutation_p.V427G|MET_uc011kna.1_Missense_Mutation_p.V427G|MET_uc011knb.1_Missense_Mutation_p.V427G	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	427	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGCAGCGCGTTGACTTATTC	0.433		NaN	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				0	0	0	0.001168	0	5	42				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	0.004878	0	13	37				
CALD1	800	broad.mit.edu	37	7	134635196	134635196	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:134635196G>A	uc003vrz.2	+	9	2325	c.1866G>A	c.(1864-1866)ATG>ATA	p.M622I	CALD1_uc003vry.2_Missense_Mutation_p.M367I|CALD1_uc003vsa.2_Missense_Mutation_p.M393I|CALD1_uc003vsb.2_Missense_Mutation_p.M367I|CALD1_uc010lmm.2_Missense_Mutation_p.M393I|CALD1_uc011kpt.1_Missense_Mutation_p.M141I|CALD1_uc003vsc.2_Missense_Mutation_p.M387I|CALD1_uc003vsd.2_Missense_Mutation_p.M361I|CALD1_uc011kpu.1_Missense_Mutation_p.M372I|CALD1_uc011kpv.1_Missense_Mutation_p.M231I|CALD1_uc003vse.2_Missense_Mutation_p.M486I	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	622					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						GCCAGAAGATGCCAGAAGATG	0.418		NaN											0	0	0	0.000602	0	5	58				
NOM1	64434	broad.mit.edu	37	7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:156743110A>G	uc003wmy.2	+	1	694	c.679A>G	c.(679-681)AAA>GAA	p.K227E		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.522		NaN											0	0	0	0.004007	0	13	74				
PSD3	23362	broad.mit.edu	37	8	18393456	18393456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:18393456C>A	uc003wza.2	-	16	3044	c.2941G>T	c.(2941-2943)GAA>TAA	p.E981*	PSD3_uc003wyx.3_Nonsense_Mutation_p.E310*|PSD3_uc003wyy.2_Nonsense_Mutation_p.E447*|PSD3_uc003wyz.2_Nonsense_Mutation_p.E282*	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	982					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACATACATTTCATAGCGGGTT	0.483		NaN											1	0	0.000673444	0.008291	0.00070694	10	38				
KCNU1	157855	broad.mit.edu	37	8	36722033	36722034	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:36722033_36722034CC>AG	uc010lvw.2	+	19	2090_2091	c.2003_2004CC>AG	c.(2002-2004)ACC>AAG	p.T668K	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	668	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTTCACCACCAGGTAAA	0.401		NaN											0	0	0	0.004672	0	25	54				
ANK1	286	broad.mit.edu	37	8	41572563	41572563	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:41572563G>T	uc003xok.2	-	15	1716	c.1632C>A	c.(1630-1632)GCC>GCA	p.A544A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A544A|ANK1_uc003xoj.2_Silent_p.A544A|ANK1_uc003xol.2_Silent_p.A544A|ANK1_uc003xom.2_Silent_p.A577A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	544	89 kDa domain.|ANK 16.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCGTACTTGGCCGCCACGT	0.627		NaN											1	0	0.000602214	0.000602	0.000635495	4	55				
CHD7	55636	broad.mit.edu	37	8	61767054	61767054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:61767054G>A	uc003xue.2	+	32	7385	c.6908G>A	c.(6907-6909)AGA>AAA	p.R2303K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2303					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCATGAAAGAACATTTGCC	0.443		NaN											0	0	0	0.00308	0	8	52		Valid		
DNAJC5B	85479	broad.mit.edu	37	8	66963856	66963856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:66963856G>C	uc003xvs.1	+	3	365	c.74G>C	c.(73-75)GGT>GCT	p.G25A	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	25	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAAATTCTTGGTCTGCATAAG	0.398		NaN											0	0	0	0.003163	0	14	78				
RAD21	5885	broad.mit.edu	37	8	117866648	117866648	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:117866648C>G	uc003yod.2	-	9	1285	c.997G>C	c.(997-999)GAT>CAT	p.D333H		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	333	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTCTTGCTATCCAACTCTTTG	0.378		NaN											0	0	0	0.010771	0	41	88				
TAF2	6873	broad.mit.edu	37	8	120790295	120790295	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:120790295T>C	uc003you.2	-	18	2598	c.2328A>G	c.(2326-2328)TTA>TTG	p.L776L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	776					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATTAAGTCTAAAATAAATG	0.264		NaN											0	0	0	0.000602	0	5	20				
MTSS1	9788	broad.mit.edu	37	8	125577982	125577982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:125577982C>T	uc003yrk.2	-	9	1279	c.745G>A	c.(745-747)GGT>AGT	p.G249S	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.G139S|MTSS1_uc003yri.2_Missense_Mutation_p.G49S|MTSS1_uc003yrj.2_Missense_Mutation_p.G249S|MTSS1_uc003yrl.2_Missense_Mutation_p.G253S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	249	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAATCAGAACCTTTCAAGTCC	0.542		NaN											0	0	0	0.004672	0	3	31				
MYC	4609	broad.mit.edu	37	8	128750529	128750529	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:128750529C>A	uc003ysh.1	+	3	534	c.21C>A	c.(19-21)TTC>TTA	p.F7L	MYC_uc003ysi.2_Missense_Mutation_p.F22L	NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	7				SF -> TI (in Ref. 5; no nucleotide entry).	branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ACGTTAGCTTCACCAACAGGA	0.587		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.08312e-15	0.009535	1.29651e-15	29	61				
TG	7038	broad.mit.edu	37	8	133948082	133948082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:133948082G>A	uc003ytw.2	+	25	5055	c.5014G>A	c.(5014-5016)GAT>AAT	p.D1672N	TG_uc010mdw.2_Missense_Mutation_p.D431N|TG_uc011ljb.1_Missense_Mutation_p.D105N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1672	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCATGGTCAAGATTCTCCAGC	0.527		NaN											0	0	0	0.00308	0	8	34				
ST3GAL1	6482	broad.mit.edu	37	8	134475669	134475669	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:134475669C>T	uc003yuk.2	-	8	1546	c.717G>A	c.(715-717)GTG>GTA	p.V239V	ST3GAL1_uc003yum.2_Silent_p.V239V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	239	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TATCCTGTTTCACTCTGATCT	0.547		NaN											0	0	0	0.009096	0	3	17				
CPSF1	29894	broad.mit.edu	37	8	145624759	145624759	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:145624759C>T	uc003zcj.2	-	14	1374	c.1299G>A	c.(1297-1299)GCG>GCA	p.A433A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	433					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGACTTACCCGCAGCTGCAC	0.657		NaN											0	0	0	0.001984	0	7	22				
CDC37L1	55664	broad.mit.edu	37	9	4679834	4679834	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:4679834G>C	uc003zio.2	+	1	277	c.67G>C	c.(67-69)GAG>CAG	p.E23Q		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	cell division cycle 37 homolog (S.	23	Self-association.					cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		GGCTGAGGAAGAGAGTGACTT	0.697		NaN									OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001984	0	7	40				
TEK	7010	broad.mit.edu	37	9	27197331	27197331	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:27197331G>C	uc003zqi.3	+	12	2085	c.1643G>C	c.(1642-1644)GGT>GCT	p.G548A	TEK_uc011lno.1_Missense_Mutation_p.G505A|TEK_uc011lnp.1_Missense_Mutation_p.G401A|TEK_uc003zqj.1_Missense_Mutation_p.G482A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	548	Extracellular (Potential).|Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCCAAGAGGTCTAAATCTC	0.318		NaN											0	0	0	0.00308	0	8	72				
CCL27	10850	broad.mit.edu	37	9	34662358	34662358	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:34662358G>C	uc003zvm.1	-	2	185	c.126C>G	c.(124-126)CTC>CTG	p.L42L		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	small inducible cytokine A27 precursor	42					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCTTGTCTGAGAGTGGCTTTC	0.567		NaN											0	0	0	0.008291	0	9	27				
UNC13B	10497	broad.mit.edu	37	9	35396570	35396570	+	Silent	SNP	C	C	T	rs150684985		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:35396570C>T	uc003zwq.2	+	26	3451	c.3159C>T	c.(3157-3159)GTC>GTT	p.V1053V	UNC13B_uc003zwr.2_Silent_p.V1053V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1053	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.V1053V(1)		ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCCTGTCCTCCAGGGGC	0.547		NaN											0	0	0	0.014323	0	23	51				
GDA	9615	broad.mit.edu	37	9	74856157	74856157	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:74856157G>A	uc004aiq.2	+	11	1261	c.1078G>A	c.(1078-1080)GAG>AAG	p.E360K	GDA_uc011lse.1_Missense_Mutation_p.E286K|GDA_uc011lsf.1_Missense_Mutation_p.E286K|GDA_uc004air.2_Missense_Mutation_p.E360K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.E282K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	360					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAGGTAAATGAGAAAAGCCT	0.403		NaN											0	0	0	0.001168	0	6	55				
VPS13A	23230	broad.mit.edu	37	9	79974283	79974283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:79974283G>C	uc004akr.2	+	58	8330	c.8070G>C	c.(8068-8070)ATG>ATC	p.M2690I	VPS13A_uc004akp.3_Missense_Mutation_p.M2690I|VPS13A_uc004akq.3_Missense_Mutation_p.M2690I|VPS13A_uc004aks.2_Missense_Mutation_p.M2651I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2690					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GTATTGTCATGAGATCTGCAG	0.308		NaN											0	0	0	0.009096	0	4	21				
ZCCHC6	79670	broad.mit.edu	37	9	88967883	88967883	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:88967883C>T	uc004aoq.2	-	2	447	c.232G>A	c.(232-234)GCA>ACA	p.A78T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aou.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aow.2_Missense_Mutation_p.A78T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.A78T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	78					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTTTTAAATGCATATGGATTG	0.418		NaN											0	0	0	0.003163	0	15	144				
TDRD7	23424	broad.mit.edu	37	9	100245529	100245529	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:100245529G>A	uc004axj.2	+	15	3036	c.2811G>A	c.(2809-2811)AAG>AAA	p.K937K	TDRD7_uc011lux.1_Silent_p.K863K|TDRD7_uc010msp.1_Silent_p.K189K|TDRD7_uc011luy.1_Silent_p.K257K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	937	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				AGATACATAAGTTGGAAGTTC	0.478		NaN											0	0	0	0.001168	0	6	75				
PAPPA	5069	broad.mit.edu	37	9	118950282	118950282	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:118950282A>G	uc004bjn.2	+	2	1646	c.1265A>G	c.(1264-1266)GAG>GGG	p.E422G	PAPPA_uc011lxp.1_Missense_Mutation_p.E215G|PAPPA_uc011lxq.1_Missense_Mutation_p.E215G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	422	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						ATTGGGGATGAGAACTGTGAC	0.627		NaN											0	0	0	0.007413	0	19	36				
STRBP	55342	broad.mit.edu	37	9	125898437	125898437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:125898437G>C	uc004bns.2	-	16	2086	c.1656C>G	c.(1654-1656)TTC>TTG	p.F552L	STRBP_uc004bnt.2_Missense_Mutation_p.F370L|STRBP_uc004bnu.2_Missense_Mutation_p.F538L|STRBP_uc004bnv.2_Missense_Mutation_p.F552L|STRBP_uc004bnr.2_Missense_Mutation_p.F111L	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	552	DRBM 2.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						CTGCGCCTCTGAATTTCTGTC	0.393		NaN											0	0	0	0.006214	0	10	71				
SH2D3C	10044	broad.mit.edu	37	9	130507349	130507349	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:130507349G>T	uc004bsc.2	-	7	1436	c.1294C>A	c.(1294-1296)CCT>ACT	p.P432T	SH2D3C_uc010mxo.2_Missense_Mutation_p.P272T|SH2D3C_uc004bry.2_Missense_Mutation_p.P274T|SH2D3C_uc004brz.3_Missense_Mutation_p.P78T|SH2D3C_uc011mak.1_Missense_Mutation_p.P78T|SH2D3C_uc004bsa.2_Missense_Mutation_p.P275T|SH2D3C_uc004bsb.2_Missense_Mutation_p.P364T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	432					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GTGGCAGAAGGGGCTGCAGGG	0.627		NaN											1	0	3.27435e-08	0.00245	3.71959e-08	15	27				
PKN3	29941	broad.mit.edu	37	9	131475651	131475651	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:131475651C>T	uc004bvw.2	+	8	1470	c.1077C>T	c.(1075-1077)GTC>GTT	p.V359V	PKN3_uc010myh.2_Silent_p.V359V|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	359					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						AGACCTTTGTCATCCCACTGG	0.652		NaN											0	0	0	0.004482	0	8	31				
EDA	1896	broad.mit.edu	37	X	69255458	69255458	+	Nonstop_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:69255458A>G	uc004dxs.2	+	8	1417	c.1175A>G	c.(1174-1176)TAG>TGG	p.*392W	EDA_uc004dxr.2_Nonstop_Mutation_p.*390W|EDA_uc011mpj.1_Nonstop_Mutation_p.*387W	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	392					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						CCTGCATCCTAGATTCCCCCC	0.567		NaN											0	0	0	0.009535	0	31	34				
ITGB1BP2	26548	broad.mit.edu	37	X	70522288	70522288	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:70522288G>A	uc004dzr.1	+	4	228	c.199G>A	c.(199-201)GAG>AAG	p.E67K	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E49K	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	67					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					ACACTGTGCTGAGAAGCTTCC	0.458		NaN											0	0	0	0.004482	0	8	16				
IL13RA1	3597	broad.mit.edu	37	X	117892057	117892057	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117892057C>T	uc004eqs.2	+	5	571	c.528C>T	c.(526-528)ATC>ATT	p.I176I	IL13RA1_uc004eqr.1_Silent_p.I176I|IL13RA1_uc004eqt.1_Silent_p.I176I	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	176	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						GTGAAAACATCTTTAGAGAAG	0.348		NaN											0	0	0	0.006122	0	18	46				
IL13RA1	3597	broad.mit.edu	37	X	117900535	117900535	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117900535G>A	uc004eqs.2	+	7	914	c.871G>A	c.(871-873)GTG>ATG	p.V291M	IL13RA1_uc004eqt.1_Missense_Mutation_p.V291M	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	291	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TGAGAGAAATGTGGAGGTCAG	0.333		NaN											0	0	0	0.00333	0	22	32				
DCAF12L2	340578	broad.mit.edu	37	X	125298848	125298848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:125298848G>C	uc004euk.1	-	1	1087	c.1060C>G	c.(1060-1062)CGG>GGG	p.R354G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCAGCGACCGCACGCCTGTG	0.637		NaN											0	0	0	0.004482	0	9	40				
SMARCA1	6594	broad.mit.edu	37	X	128614761	128614761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:128614761G>A	uc004eun.3	-	19	2472	c.2359C>T	c.(2359-2361)CAG>TAG	p.Q787*	SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q775*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q787*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q775*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	787					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						TGAAAATCCTGAACATTTGGC	0.343		NaN											0	0	0	0.00245	0	13	12				
TKTL1	8277	broad.mit.edu	37	X	153539540	153539540	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539540C>T	uc004fkg.2	+	5	807	c.621C>T	c.(619-621)CAC>CAT	p.H207H	TKTL1_uc011mzl.1_Silent_p.H201H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H151H	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	207					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGAAGCACAAGCCCACTG	0.587		NaN											0	0	0	0.003954	0	25	82				
TKTL1	8277	broad.mit.edu	37	X	153539541	153539541	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539541A>T	uc004fkg.2	+	5	808	c.622A>T	c.(622-624)AAG>TAG	p.K208*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.K202*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.K152*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	208					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGAAGCACAAGCCCACTGC	0.587		NaN											0	0	0	0.003954	0	25	83				
CDK11B	984	broad.mit.edu	37	1	1572053	1572053	+	Silent	SNP	C	C	T	rs17424311		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:1572053C>T	uc001agv.1	-	21	2019	c.1908G>A	c.(1906-1908)AAG>AAA	p.K636K	CDK11B_uc009vkj.2_Silent_p.K293K|CDK11B_uc001ags.1_Silent_p.K494K|CDK11B_uc001agt.1_Silent_p.K419K|CDK11B_uc001aha.1_Silent_p.K602K|CDK11B_uc001agw.1_Silent_p.K591K|CDK11B_uc001agy.1_Silent_p.K634K|CDK11B_uc001agx.1_Silent_p.K625K|CDK11B_uc001agz.1_Silent_p.K380K	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	649	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						CCTTGAACACCTTGTTGATCT	0.607		NaN											0	0	0	0.001984	0	7	64				
TNFRSF9	3604	broad.mit.edu	37	1	7993281	7993281	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:7993281G>A	uc001aot.2	-	7	748	c.620C>T	c.(619-621)ACG>ATG	p.T207M		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	207	Helical; (Potential).				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACGGAGCGTGAGGAAGAA	0.448		NaN											0	0	0	0.000602	0	5	40				
VPS13D	55187	broad.mit.edu	37	1	12378341	12378341	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:12378341C>T	uc001atv.2	+	31	7502	c.7361C>T	c.(7360-7362)TCT>TTT	p.S2454F	VPS13D_uc001atw.2_Missense_Mutation_p.S2454F|VPS13D_uc001atx.2_Missense_Mutation_p.S1642F|VPS13D_uc001aty.1_Missense_Mutation_p.S192F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2454					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCAAGCGGTCTTCCCTTCCT	0.443		NaN											0	0	0	0.008291	0	11	93				
DNAJC16	23341	broad.mit.edu	37	1	15890478	15890478	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15890478G>A	uc001aws.2	+	10	1513	c.1393G>A	c.(1393-1395)GAA>AAA	p.E465K	DNAJC16_uc001awr.1_Missense_Mutation_p.E465K|DNAJC16_uc001awt.2_Missense_Mutation_p.E153K|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	465	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TAAAACCCTGGAAGACCCTTG	0.453		NaN											0	0	0	0.00278	0	24	206				
DNAJC16	23341	broad.mit.edu	37	1	15894468	15894468	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15894468G>C	uc001aws.2	+	15	2265	c.2145G>C	c.(2143-2145)AAG>AAC	p.K715N	DNAJC16_uc001awt.2_Missense_Mutation_p.K403N|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	715	Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCCCCAAAAGACAGTCGAAG	0.488		NaN											0	0	0	0.010729	0	12	100				
DNAJC16	23341	broad.mit.edu	37	1	15894475	15894475	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:15894475G>A	uc001aws.2	+	15	2272	c.2152G>A	c.(2152-2154)GAA>AAA	p.E718K	DNAJC16_uc001awt.2_Missense_Mutation_p.E406K|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	718	Poly-Glu.|Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAAGACAGTCGAAGAGGAGGA	0.498		NaN											0	0	0	0.010729	0	11	96				
PUM1	9698	broad.mit.edu	37	1	31439030	31439030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:31439030G>A	uc001bsi.1	-	13	1998	c.1885C>T	c.(1885-1887)CAG>TAG	p.Q629*	PUM1_uc001bsf.1_Nonsense_Mutation_p.Q295*|PUM1_uc001bsg.1_Nonsense_Mutation_p.Q442*|PUM1_uc001bsh.1_Nonsense_Mutation_p.Q629*|PUM1_uc001bsj.1_Nonsense_Mutation_p.Q603*|PUM1_uc010oga.1_Nonsense_Mutation_p.Q485*|PUM1_uc001bsk.1_Nonsense_Mutation_p.Q665*|PUM1_uc010ogb.1_Nonsense_Mutation_p.Q570*	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	629					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ggctggggctgaggctgCTGT	0.423		NaN											0	0	0	0.00632	0	29	98				
MAP7D1	55700	broad.mit.edu	37	1	36640550	36640550	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:36640550C>T	uc001bzz.2	+	6	1007	c.791C>T	c.(790-792)TCT>TTT	p.S264F	MAP7D1_uc001caa.2_Missense_Mutation_p.S264F|MAP7D1_uc001cab.2_Intron|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	264						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CACGTGGACTCTATAATCAAC	0.607		NaN											0	0	0	0.009096	0	4	36				
THRAP3	9967	broad.mit.edu	37	1	36766675	36766675	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:36766675G>A	uc001cae.3	+	10	2716	c.2492G>A	c.(2491-2493)CGA>CAA	p.R831Q	THRAP3_uc001caf.3_Missense_Mutation_p.R831Q	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	831					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCAGAGCTCGAGGAACCTTT	0.502		NaN	T	USP6	aneurysmal bone cysts								0	0	0	0.009096	0	4	41				
PPCS	79717	broad.mit.edu	37	1	42922346	42922346	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:42922346T>G	uc001chl.2	+	1	174	c.110T>G	c.(109-111)GTG>GGG	p.V37G	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	37					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCGGCGGGTGGTGTTGGTT	0.711		NaN											0	0	0	0.011902	0	10	35				
KIAA0467	23334	broad.mit.edu	37	1	43868912	43868912	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:43868912G>A	uc009vws.1	+	2	176	c.92G>A	c.(91-93)CGC>CAC	p.R31H	C1orf84_uc001cjh.2_Missense_Mutation_p.R31H|C1orf84_uc001cji.1_RNA			Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	31						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGAAATGTTCGCCTGGCTTGG	0.493		NaN											0	0	0	0.001168	0	6	63				
KIAA0467	23334	broad.mit.edu	37	1	43898837	43898837	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:43898837G>A	uc001cjk.1	+	25	3545	c.3083G>A	c.(3082-3084)CGT>CAT	p.R1028H		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1927						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCAGGACCGTGTGGAAGTG	0.607		NaN											0	0	0	0.001855	0	13	122				
TSPAN1	10103	broad.mit.edu	37	1	46650908	46650908	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:46650908T>C	uc001cpd.2	+	8	1070	c.606T>C	c.(604-606)AAT>AAC	p.N202N	TSPAN1_uc009vyd.1_Silent_p.N202N	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	202	Extracellular (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTTGCTTCAATCAGCTTTTGT	0.537		NaN											0	0	0	0.008871	0	19	300				
CYP4A11	1579	broad.mit.edu	37	1	47395912	47395912	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:47395912C>G	uc001cqp.3	-	12	1486	c.1435G>C	c.(1435-1437)GAG>CAG	p.E479Q		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	479					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)	GGCAGCAGCTCAAAGCGGAGC	0.547		NaN											0	0	0	0.010729	0	11	151				
C8A	731	broad.mit.edu	37	1	57347200	57347200	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:57347200G>C	uc001cyo.2	+	5	679	c.547G>C	c.(547-549)GGG>CGG	p.G183R		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	183	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						GGTATACAATGGGGAATGGAG	0.463		NaN											0	0	0	0.008291	0	8	133				
TXNIP	10628	broad.mit.edu	37	1	145440476	145440476	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440476G>C	uc001enn.3	+	5	1123	c.782G>C	c.(781-783)AGG>ACG	p.R261T	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R206T	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	261					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGAAGATCAGGCCTTCTATC	0.488		NaN											0	0	0	0.005443	0	25	186				
TXNIP	10628	broad.mit.edu	37	1	145440481	145440481	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440481T>C	uc001enn.3	+	5	1128	c.787T>C	c.(787-789)TCT>CCT	p.S263P	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.S208P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	263					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATCAGGCCTTCTATCCTGGG	0.493		NaN											0	0	0	0.00632	0	25	185				
TCHH	7062	broad.mit.edu	37	1	152080154	152080154	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152080154C>T	uc001ezp.2	-	2	5539	c.5539G>A	c.(5539-5541)GCG>ACG	p.A1847T	TCHH_uc009wne.1_Missense_Mutation_p.A1847T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1847	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTCCGCCCGGTACTGC	0.572		NaN											0	0	0	0.006214	0	8	103				
TCHH	7062	broad.mit.edu	37	1	152080660	152080660	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152080660T>G	uc001ezp.2	-	2	5033	c.5033A>C	c.(5032-5034)GAA>GCA	p.E1678A	TCHH_uc009wne.1_Missense_Mutation_p.E1678A	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1678	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCCTTCCTGGAGCAG	0.597		NaN											0	0	0	0.006122	0	17	170				
TCHH	7062	broad.mit.edu	37	1	152084447	152084447	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152084447C>T	uc001ezp.2	-	2	1246	c.1246G>A	c.(1246-1248)GAG>AAG	p.E416K	TCHH_uc009wne.1_Missense_Mutation_p.E416K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	416	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|2-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			Agctgctgctcgcgcctcagc	0.095		NaN											0	0	0	0.000602	0	5	30				
FLG2	388698	broad.mit.edu	37	1	152325730	152325730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:152325730G>C	uc001ezw.3	-	3	4605	c.4532C>G	c.(4531-4533)TCA>TGA	p.S1511*	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1511							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGCCCCCTGAGTGCACTTC	0.493		NaN											0	0	0	0.01441	0	88	364				
OR10J1	26476	broad.mit.edu	37	1	159409753	159409753	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:159409753C>A	uc010piv.1	+	1	205	c.205C>A	c.(205-207)CCC>ACC	p.P69T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	69	Helical; Name=2; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					TCTTCACACACCCATGTACTT	0.458		NaN											1	0	1.12685e-05	0.004482	1.18264e-05	9	160				
FCGR2B	2213	broad.mit.edu	37	1	161641372	161641372	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:161641372C>T	uc001gaz.1	+	3	416	c.324C>T	c.(322-324)AGC>AGT	p.S108S	FCGR2B_uc009wum.1_Silent_p.S108S|FCGR2B_uc001gay.1_Silent_p.S107S|FCGR2B_uc001gba.1_Silent_p.S107S|FCGR2B_uc001gbb.1_Silent_p.S108S|FCGR2B_uc009wun.1_Silent_p.S101S	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	108	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAATGACAGCGGGGAGTACA	0.592		NaN	T	NaN	ALL								0	0	0	0.010729	0	10	155				
TOR1AIP1	26092	broad.mit.edu	37	1	179852011	179852011	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:179852011G>A	uc001gnq.2	+	1	592	c.374G>A	c.(373-375)CGA>CAA	p.R125Q	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R125Q	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	125	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						ATGAAGACGCGAAGGACTACC	0.587		NaN											0	0	0	0.006214	0	9	90				
KIF21B	23046	broad.mit.edu	37	1	200946381	200946381	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:200946381G>A	uc001gvs.1	-	31	4601	c.4284C>T	c.(4282-4284)TAC>TAT	p.Y1428Y	KIF21B_uc001gvr.1_Silent_p.Y1415Y|KIF21B_uc009wzl.1_Silent_p.Y1428Y|KIF21B_uc010ppn.1_Silent_p.Y1415Y	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1428	WD 3.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCGAGGCGGCGTACAGCATGG	0.642		NaN											0	0	0	0.009096	0	4	150				
ATP2B4	493	broad.mit.edu	37	1	203681223	203681223	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:203681223G>C	uc001gzw.2	+	13	3051	c.2167G>C	c.(2167-2169)GAA>CAA	p.E723Q	ATP2B4_uc001gzv.2_Missense_Mutation_p.E723Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.E723Q	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	723	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGTGCTTAGAAGGCAAAGA	0.542		NaN											0	0	0	0.006214	0	9	81				
RPS6KC1	26750	broad.mit.edu	37	1	213415603	213415603	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:213415603C>T	uc010ptr.1	+	11	2943	c.2784C>T	c.(2782-2784)CGC>CGT	p.R928R	RPS6KC1_uc001hkd.2_Silent_p.R916R|RPS6KC1_uc010pts.1_Silent_p.R716R|RPS6KC1_uc010ptt.1_Silent_p.R716R|RPS6KC1_uc010ptu.1_Silent_p.R747R|RPS6KC1_uc010ptv.1_Silent_p.R463R|RPS6KC1_uc001hke.2_Silent_p.R747R	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	928	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTGTGTGCCGCGATTTGAACC	0.433		NaN											0	0	0	0.006214	0	9	102				
LYST	1130	broad.mit.edu	37	1	235826288	235826288	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:235826288C>T	uc001hxj.2	-	53	11533	c.11358G>A	c.(11356-11358)TTG>TTA	p.L3786L	LYST_uc001hxi.2_Silent_p.L1010L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3786	WD 7.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGCTGTTTCAAGCGCTGCT	0.458		NaN							Chediak-Higashi_syndrome				0	0	0	0.004482	0	9	118				
LYST	1130	broad.mit.edu	37	1	235972124	235972124	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:235972124G>A	uc001hxj.2	-	5	2169	c.1994C>T	c.(1993-1995)TCA>TTA	p.S665L	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S665L	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	665	WD 1.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGATAAACTTGAGGAGAGTTC	0.408		NaN							Chediak-Higashi_syndrome				0	0	0	0.000602	0	5	70				
OR2T12	127064	broad.mit.edu	37	1	248458397	248458397	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:248458397G>T	uc010pzj.1	-	1	484	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGGAAGCTCAGGGTAGCAACA	0.577		NaN											1	0	0.00307968	0.00308	0.00312888	8	193				
ITIH2	3698	broad.mit.edu	37	10	7768927	7768927	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:7768927G>A	uc001ijs.2	+	10	1161	c.999G>A	c.(997-999)ATG>ATA	p.M333I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	333	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						TGGAAGCAATGAAGACCATAT	0.393		NaN											0	0	0	0.000602	0	5	70				
FRMD4A	55691	broad.mit.edu	37	10	13712435	13712435	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:13712435C>T	uc001ims.2	-	17	1697	c.1345G>A	c.(1345-1347)GAT>AAT	p.D449N	FRMD4A_uc009xjf.1_Missense_Mutation_p.D449N|FRMD4A_uc001imt.1_Missense_Mutation_p.D482N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	449						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TTCTGTTCATCCAGTTTGAAG	0.498		NaN											0	0	0	0.00245	0	15	95				
FRMD4A	55691	broad.mit.edu	37	10	13712504	13712504	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:13712504C>T	uc001ims.2	-	17	1628	c.1276G>A	c.(1276-1278)GAA>AAA	p.E426K	FRMD4A_uc009xjf.1_Missense_Mutation_p.E426K|FRMD4A_uc001imt.1_Missense_Mutation_p.E459K	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	426						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						AGGGGATATTCTACTGGCAGC	0.483		NaN											0	0	0	0.004007	0	15	110				
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:31133898C>T	uc010qdz.1	-	8	2914	c.2479G>A	c.(2479-2481)GAG>AAG	p.E827K	ZNF438_uc001ivn.2_Missense_Mutation_p.E778K|ZNF438_uc010qdy.1_Missense_Mutation_p.E817K|ZNF438_uc001ivo.3_Missense_Mutation_p.E391K|ZNF438_uc009xlg.2_Missense_Mutation_p.E827K|ZNF438_uc001ivp.3_Missense_Mutation_p.E817K|ZNF438_uc010qea.1_Missense_Mutation_p.E827K|ZNF438_uc010qeb.1_Missense_Mutation_p.E827K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512		NaN											0	0	0	0.008361	0	29	298				
PARD3	56288	broad.mit.edu	37	10	34420399	34420399	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:34420399G>C	uc010qej.1	-	23	3541	c.3541C>G	c.(3541-3543)CAA>GAA	p.Q1181E	PARD3_uc010qek.1_Missense_Mutation_p.Q1178E|PARD3_uc010qel.1_Missense_Mutation_p.Q1144E|PARD3_uc010qem.1_Missense_Mutation_p.Q1165E|PARD3_uc010qen.1_Missense_Mutation_p.Q1135E|PARD3_uc010qeo.1_Missense_Mutation_p.Q1098E|PARD3_uc010qep.1_Missense_Mutation_p.Q1091E|PARD3_uc010qeq.1_Missense_Mutation_p.Q1069E	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1181					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				ACCCAGGGTTGCTCAAAACTA	0.463		NaN											0	0	0	0.003163	0	15	57				
ZNF37A	7587	broad.mit.edu	37	10	38406754	38406754	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:38406754C>G	uc001izk.2	+	8	1494	c.675C>G	c.(673-675)AGC>AGG	p.S225R	ZNF37A_uc001izl.2_Missense_Mutation_p.S225R|ZNF37A_uc001izm.2_Missense_Mutation_p.S225R	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						ACCCATTCAGCCAGAAGTTAA	0.348		NaN											0	0	0	0.001168	0	6	55				
EIF5AL1	143244	broad.mit.edu	37	10	81272751	81272751	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:81272751G>A	uc009xrx.2	+	1	395	c.346G>A	c.(346-348)GAG>AAG	p.E116K	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	116					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCGTCTCCCTGAGGGAGACCT	0.537		NaN											0	0	0	0.00308	0	6	154				
TSPAN14	81619	broad.mit.edu	37	10	82269071	82269071	+	Silent	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:82269071C>A	uc001kcj.3	+	5	401	c.294C>A	c.(292-294)ATC>ATA	p.I98I	TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.I81I	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	98	Helical; (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			GTGGCACCATCGTGCTCATCT	0.617		NaN											1	0	0.00198382	0.001984	0.00202847	7	42				
CHST15	51363	broad.mit.edu	37	10	125798151	125798151	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr10:125798151G>T	uc001lhl.2	-	4	1583	c.1070C>A	c.(1069-1071)GCC>GAC	p.A357D	CHST15_uc001lhm.2_Missense_Mutation_p.A357D|CHST15_uc001lhn.2_Missense_Mutation_p.A357D|CHST15_uc010que.1_Missense_Mutation_p.A357D|CHST15_uc001lho.2_Missense_Mutation_p.A357D	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	357	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						GAACGTCCAGGCATTATTATC	0.547		NaN											1	0	3.86212e-05	0.008291	4.01358e-05	10	52				
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:1264405A>C	uc009ycr.1	+	47	8500	c.8374A>C	c.(8374-8376)ACC>CCC	p.T2792P	MUC5B_uc001ltb.2_Missense_Mutation_p.T2102P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2099	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.602		NaN											0	0	0	0.007413	0	7	20				
ST5	6764	broad.mit.edu	37	11	8724142	8724142	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:8724142G>C	uc001mgt.2	-	14	2883	c.2697C>G	c.(2695-2697)GTC>GTG	p.V899V	ST5_uc009yfr.2_Silent_p.V479V|ST5_uc001mgu.2_Silent_p.V479V|ST5_uc001mgv.2_Silent_p.V899V|ST5_uc010rbp.1_Silent_p.V412V|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	899	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCACAAAAATGACCCGGCGCT	0.572		NaN											0	0	0	0.001168	0	6	89				
CHRM4	1132	broad.mit.edu	37	11	46407836	46407836	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:46407836A>G	uc001nct.1	-	1	272	c.272T>C	c.(271-273)GTG>GCG	p.V91A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	91	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GATGATGTACACGGTGTAGAG	0.577		NaN											0	0	0	0.006214	0	10	62				
CABP4	57010	broad.mit.edu	37	11	67223087	67223087	+	Missense_Mutation	SNP	G	G	A	rs149056460		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:67223087G>A	uc001olo.2	+	1	270	c.193G>A	c.(193-195)GAG>AAG	p.E65K	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	65					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGCCCCGAGGCCCCGGG	0.701		NaN											0	0	0	0.004672	0	3	24				
KRTAP5-10	387273	broad.mit.edu	37	11	71276978	71276978	+	Silent	SNP	C	C	T	rs77786965		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:71276978C>T	uc001oqt.1	+	1	370	c.345C>T	c.(343-345)GGC>GGT	p.G115G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	115	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						GGGGCTGTGGCTCCTGTGGGG	0.652		NaN											0	0	0	0.006214	0	6	240				
MTNR1B	4544	broad.mit.edu	37	11	92703069	92703069	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:92703069C>T	uc001pdk.1	+	1	281	c.178C>T	c.(178-180)CTG>TTG	p.L60L		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	60	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGGCAACCTCCTGGTGATCCT	0.667		NaN											0	0	0	0.001168	0	5	13				
MAML2	84441	broad.mit.edu	37	11	95724768	95724768	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:95724768C>G	uc001pfw.1	-	3	3544	c.2259G>C	c.(2257-2259)TTG>TTC	p.L753F		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	753					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCTTTCCCATCAATTGCTGAT	0.488		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								0	0	0	0.006122	0	19	109				
ATM	472	broad.mit.edu	37	11	108218071	108218071	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:108218071G>C	uc001pkb.1	+	59	9035	c.8650G>C	c.(8650-8652)GAA>CAA	p.E2884Q	ATM_uc009yxr.1_Missense_Mutation_p.E2884Q|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1536Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2884	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCAGTCAGCAGAACTTGTACA	0.313		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	0.008291	0	11	26		Valid		
BUD13	84811	broad.mit.edu	37	11	116633771	116633772	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:116633771_116633772CC>AT	uc001ppn.2	-	4	567_568	c.533_534GG>AT	c.(532-534)AGG>AAT	p.R178N	BUD13_uc001ppo.2_Missense_Mutation_p.R178N|BUD13_uc009yzc.2_Missense_Mutation_p.R178N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	178	Arg-rich.									large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GACGGATCCTCCTGGGAGGAGA	0.584		NaN											0	0	0	0.004672	0	33	215				
CXCR5	643	broad.mit.edu	37	11	118754653	118754653	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:118754653G>T	uc001pue.3	+	1	113	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	1	Extracellular (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACAGCCATGAACTACCCGC	0.577		NaN											1	0	0.00909568	0.009096	0.00918231	4	16				
CDON	50937	broad.mit.edu	37	11	125850958	125850958	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:125850958G>A	uc009zbw.2	-	17	3390	c.3262C>T	c.(3262-3264)CAT>TAT	p.H1088Y	CDON_uc001qdb.3_Missense_Mutation_p.H465Y|CDON_uc001qdc.3_Missense_Mutation_p.H1088Y	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	1088	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ACTAGATGATGAGGATGTTCA	0.463		NaN											0	0	0	0.009535	0	33	85				
CDON	50937	broad.mit.edu	37	11	125889616	125889616	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:125889616C>G	uc009zbw.2	-	4	522	c.394G>C	c.(394-396)GAA>CAA	p.E132Q	CDON_uc001qdc.3_Missense_Mutation_p.E132Q|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.E132Q	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	132	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTTTTTCTTCTGCTGTAATA	0.393		NaN											0	0	0	0.00278	0	25	132				
APLP2	334	broad.mit.edu	37	11	130011399	130011399	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr11:130011399G>T	uc010sby.1	+	16	2123	c.1966G>T	c.(1966-1968)GAC>TAC	p.D656Y	APLP2_uc001qfp.2_Missense_Mutation_p.D644Y|APLP2_uc001qfq.2_Missense_Mutation_p.D588Y|APLP2_uc010sbz.1_Missense_Mutation_p.D444Y|APLP2_uc001qfr.2_Missense_Mutation_p.D410Y|APLP2_uc001qfs.2_Missense_Mutation_p.D415Y|APLP2_uc001qfv.2_Missense_Mutation_p.D547Y|APLP2_uc009zcv.2_Missense_Mutation_p.D4Y	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	656	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TCAGGTCATTGACGAGACTCT	0.498		NaN											1	0	1.02788e-11	0.00499	1.12325e-11	17	43				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:3649787T>C	uc001qmf.2	+	2	458	c.91T>C	c.(91-93)TCC>CCC	p.S31P	PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	31	SH3-binding 1.				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652		NaN											0	0	0	0.00623	0	22	90				
CLSTN3	9746	broad.mit.edu	37	12	7295617	7295617	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:7295617A>T	uc001qsr.2	+	11	1971	c.1693A>T	c.(1693-1695)ATG>TTG	p.M565L	CLSTN3_uc001qss.2_Missense_Mutation_p.M577L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	565	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GGGCAAAGGCATGAAGGTATT	0.622		NaN											0	0	0	0.00308	0	8	47				
SLC2A3	6515	broad.mit.edu	37	12	8086418	8086418	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:8086418A>T	uc001qtr.2	-	2	358	c.96T>A	c.(94-96)AAT>AAA	p.N32K	SLC2A3_uc001qts.2_Missense_Mutation_p.N32K	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	32	Extracellular (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TCTCAGGAGCATTGATGACCC	0.428		NaN									OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.001168	0	6	73				
CLEC9A	283420	broad.mit.edu	37	12	10205299	10205299	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:10205299G>C	uc001qxa.2	+	4	626	c.13G>C	c.(13-15)GAA>CAA	p.E5Q		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	5	Cytoplasmic (Potential).|ITAM-like.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						GCACGAGGAAGAAATATACAC	0.448		NaN											0	0	0	0.010729	0	11	61				
TAS2R31	259290	broad.mit.edu	37	12	11183288	11183288	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:11183288G>C	uc001qzo.1	-	1	719	c.647C>G	c.(646-648)TCT>TGT	p.S216C	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	216	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						GGGATCTTGAGATCCTTTACC	0.408		NaN											0	0	0	0.008871	0	21	283				
FAM60A	58516	broad.mit.edu	37	12	31446788	31446788	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:31446788C>G	uc010sjz.1	-	4	545	c.306G>C	c.(304-306)AGG>AGC	p.R102S	FAM60A_uc001rkd.2_Missense_Mutation_p.R102S|FAM60A_uc010ska.1_Missense_Mutation_p.R102S|FAM60A_uc001rke.2_Missense_Mutation_p.R102S|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.R127S	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	102											0	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TGCTTTTTATCCTGTTCCCAG	0.333		NaN											0	0	0	0.001984	0	7	35				
TMEM106C	79022	broad.mit.edu	37	12	48360997	48360997	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:48360997C>T	uc001rqp.2	+	7	724	c.609C>T	c.(607-609)TTC>TTT	p.F203F	TMEM106C_uc001rqo.2_Silent_p.F184F|TMEM106C_uc001rqr.2_Silent_p.F203F|TMEM106C_uc001rqq.2_Silent_p.F184F	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	203	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GTAGCTTCTTCTGCACGGTAC	0.488		NaN											0	0	0	0.013114	0	45	215				
KRT6A	3853	broad.mit.edu	37	12	52886867	52886867	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:52886867C>T	uc001sam.2	-	1	315	c.106G>A	c.(106-108)GTC>ATC	p.V36I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	36	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACGGAGACGCTGCTGAAG	0.667		NaN											0	0	0	0.001168	0	6	164				
OBFC2B	79035	broad.mit.edu	37	12	56622879	56622879	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:56622879A>C	uc001ski.2	+	7	642	c.518A>C	c.(517-519)CAC>CCC	p.H173P	OBFC2B_uc001skk.2_Missense_Mutation_p.H198P|OBFC2B_uc001skj.2_Missense_Mutation_p.H189P	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	173	Pro-rich.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						ACTCCCTCCCACCCACCCAGC	0.612		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.010729	0	5	22				
STAT2	6773	broad.mit.edu	37	12	56745131	56745131	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:56745131C>T	uc001slc.2	-	9	964	c.886G>A	c.(886-888)GGG>AGG	p.G296R	STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Missense_Mutation_p.G292R|STAT2_uc010sqn.1_Missense_Mutation_p.G292R	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	296					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						AGGTCCACCCCTTTGGTCAGA	0.572		NaN											0	0	0	0.003954	0	27	306				
LRP1	4035	broad.mit.edu	37	12	57588794	57588794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:57588794G>C	uc001snd.2	+	51	8684	c.8218G>C	c.(8218-8220)GAG>CAG	p.E2740Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2740	Extracellular (Potential).|LDL-receptor class A 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCAGTTTGAGTGCCAGAA	0.597		NaN											0	0	0	0.013537	0	13	154				
SRGAP1	57522	broad.mit.edu	37	12	64485155	64485155	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:64485155C>G	uc010ssp.1	+	12	1592	c.1536C>G	c.(1534-1536)GTC>GTG	p.V512V	SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	512	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAACATTCGTCAAGGTACTGG	0.483		NaN											0	0	0	0.001984	0	6	46				
PTPRB	5787	broad.mit.edu	37	12	71016176	71016176	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:71016176A>G	uc001swc.3	-	3	746	c.702T>C	c.(700-702)ACT>ACC	p.T234T	PTPRB_uc001swa.3_Silent_p.T234T|PTPRB_uc001swd.3_Silent_p.T233T|PTPRB_uc009zrr.1_Silent_p.T113T|PTPRB_uc001swe.2_Silent_p.T234T	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTACCTCTTCAGTGGTGCTGG	0.507		NaN											0	0	0	0.006214	0	8	218				
LRRIQ1	84125	broad.mit.edu	37	12	85531742	85531742	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:85531742G>C	uc001tac.2	+	19	4435	c.4324G>C	c.(4324-4326)GAT>CAT	p.D1442H		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1442										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTTTATATTTGATGAAGTAAG	0.284		NaN											0	0	0	0.006214	0	10	46				
NTS	4922	broad.mit.edu	37	12	86272159	86272159	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:86272159C>G	uc001tag.2	+	3	279	c.172C>G	c.(172-174)CTG>GTG	p.L58V		NM_006183	NP_006174	P30990	NEUT_HUMAN	neurotensin/neuromedin N preproprotein	58					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity				0						GAAGATGACTCTGCTAAATGT	0.328		NaN											0	0	0	0.010729	0	11	133				
MYL2	4633	broad.mit.edu	37	12	111348888	111348888	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:111348888T>C	uc001try.3	-	7	565	c.494A>G	c.(493-495)AAG>AGG	p.K165R	MYL2_uc001trx.3_Missense_Mutation_p.K146R	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	165	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						CTCCTAGTCCTTCTCTTCTCC	0.602		NaN											0	0	0	0.004007	0	16	119				
MYL2	4633	broad.mit.edu	37	12	111348892	111348892	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:111348892C>G	uc001try.3	-	7	561	c.490G>C	c.(490-492)GAG>CAG	p.E164Q	MYL2_uc001trx.3_Missense_Mutation_p.E145Q	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	164	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TAGTCCTTCTCTTCTCCGTGG	0.607		NaN											0	0	0	0.004007	0	15	122				
PIWIL1	9271	broad.mit.edu	37	12	130846097	130846097	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:130846097C>T	uc001uik.2	+	16	2011	c.1921C>T	c.(1921-1923)CGG>TGG	p.R641W	PIWIL1_uc001uij.1_Missense_Mutation_p.R641W	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	641	RNA-binding (By similarity).|Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GACAGCTGGGCGGAGGTCAAT	0.478		NaN											0	0	0	0.006122	0	17	130				
MYCBP2	23077	broad.mit.edu	37	13	77672741	77672741	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:77672741G>C	uc001vkf.2	-	57	8525	c.8434C>G	c.(8434-8436)CTA>GTA	p.L2812V	MYCBP2_uc010aev.2_Missense_Mutation_p.L2216V|MYCBP2_uc001vkg.1_Missense_Mutation_p.L335V|MYCBP2_uc010aew.2_Missense_Mutation_p.L198V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTGAGGTAGATTTTTATCA	0.473		NaN											0	0	0	0.00308	0	8	116				
MBNL2	10150	broad.mit.edu	37	13	97986694	97986694	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:97986694G>T	uc010aft.2	+	3	1155	c.339G>T	c.(337-339)GTG>GTT	p.V113V	MBNL2_uc001vmz.2_Silent_p.V113V|MBNL2_uc001vna.2_Silent_p.V113V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Silent_p.V113V	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	113					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TTCATCCAGTGGTGAGTACAT	0.433		NaN											1	0	0.004672	0.004672	0.00473152	3	56				
MYO16	23026	broad.mit.edu	37	13	109318494	109318494	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr13:109318494G>C	uc001vqt.1	+	2	349	c.223G>C	c.(223-225)GAA>CAA	p.E75Q	MYO16_uc010agk.1_Missense_Mutation_p.E97Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	75	ANK 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAATGACAAAGAAGGTACATG	0.418		NaN											0	0	0	0.004672	0	3	21				
OR4L1	122742	broad.mit.edu	37	14	20528361	20528361	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:20528361C>T	uc001vwn.1	+	1	158	c.158C>T	c.(157-159)TCA>TTA	p.S53L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ACATGTAGGTCAACCCTTCAT	0.423		NaN											0	0	0	0.006214	0	4	125				
ARHGAP5	394	broad.mit.edu	37	14	32560146	32560146	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:32560146C>T	uc001wrl.2	+	2	510	c.271C>T	c.(271-273)CAT>TAT	p.H91Y	ARHGAP5_uc001wrm.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wrn.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	91					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCAAAATTCATGTCATTGA	0.373		NaN											0	0	0	0.001984	0	7	89				
PAX9	5083	broad.mit.edu	37	14	37145475	37145475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:37145475C>T	uc001wty.3	+	5	1561	c.844C>T	c.(844-846)CAA>TAA	p.Q282*	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	282					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TACCCCAGCCCAAGTGTCGCC	0.532		NaN											0	0	0	0.013537	0	13	111				
DDHD1	80821	broad.mit.edu	37	14	53513571	53513571	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:53513571G>A	uc001xai.2	-	13	2848	c.2618C>T	c.(2617-2619)TCC>TTC	p.S873F	DDHD1_uc001xaj.2_Missense_Mutation_p.S852F|DDHD1_uc001xah.2_Missense_Mutation_p.S845F|DDHD1_uc001xag.2_Missense_Mutation_p.S427F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	873	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					AACATCCAAGGATGACCAATA	0.433		NaN											0	0	0	0.010729	0	11	65				
DACT1	51339	broad.mit.edu	37	14	59113460	59113460	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:59113460G>A	uc001xdw.2	+	4	2283	c.2119G>A	c.(2119-2121)GCG>ACG	p.A707T	DACT1_uc010trv.1_Missense_Mutation_p.A426T|DACT1_uc001xdx.2_Missense_Mutation_p.A670T|DACT1_uc010trw.1_Missense_Mutation_p.A426T	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GCTGTACCCCGCGCCTGTGCC	0.672		NaN											0	0	0	0.00308	0	8	79				
SPTB	6710	broad.mit.edu	37	14	65246625	65246625	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:65246625G>C	uc001xht.2	-	20	4345	c.4291C>G	c.(4291-4293)CGA>GGA	p.R1431G	SPTB_uc001xhr.2_Missense_Mutation_p.R1431G|SPTB_uc001xhs.2_Missense_Mutation_p.R1431G|SPTB_uc001xhu.2_Missense_Mutation_p.R1431G|SPTB_uc010aqi.2_Missense_Mutation_p.R92G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1431	Spectrin 11.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTCTTTTCGCACATTCACT	0.478		NaN											0	0	0	0.008291	0	10	125				
PTPN21	11099	broad.mit.edu	37	14	88934487	88934487	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr14:88934487G>C	uc001xwv.3	-	19	3850	c.3519C>G	c.(3517-3519)CTC>CTG	p.L1173L	PTPN21_uc010twc.1_Silent_p.L969L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	1173						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GAGCTTAGATGAGCCTGGAGC	0.468		NaN											0	0	0	0.005524	0	39	247				
TYRO3	7301	broad.mit.edu	37	15	41870164	41870164	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:41870164A>G	uc001zof.1	+	19	2587	c.2363A>G	c.(2362-2364)AAC>AGC	p.N788S		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	788	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAACTGGAGAACATCTTGGGC	0.572		NaN											0	0	0	0.009096	0	4	109				
MYO9A	4649	broad.mit.edu	37	15	72172115	72172115	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:72172115C>G	uc002atl.3	-	30	6159	c.5686G>C	c.(5686-5688)GCC>CCC	p.A1896P	MYO9A_uc002atk.2_Missense_Mutation_p.A691P|MYO9A_uc002atm.1_Missense_Mutation_p.A692P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1896	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TCCTTCAGGGCTTTTTTAAAT	0.373		NaN											0	0	0	0.00308	0	8	58				
CHRNB4	1143	broad.mit.edu	37	15	78922181	78922181	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:78922181C>G	uc002bed.1	-	5	578	c.466G>C	c.(466-468)GAG>CAG	p.E156Q	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	156	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						TACTTCACCTCAATCTTGCAG	0.567		NaN											0	0	0	0.008291	0	11	74				
MSLN	10232	broad.mit.edu	37	16	816647	816647	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:816647C>G	uc002cjw.1	+	13	1285	c.1234C>G	c.(1234-1236)CCT>GCT	p.P412A	MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Intron	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	412					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				CCACAAGGCTCCTCGGCGGCC	0.632		NaN											0	0	0	0.003163	0	16	104				
DOC2A	8448	broad.mit.edu	37	16	30021406	30021406	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:30021406G>A	uc002dvm.2	-	2	238	c.138C>T	c.(136-138)GGC>GGT	p.G46G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.G46G|DOC2A_uc002dvn.2_Silent_p.G46G|DOC2A_uc010vef.1_Intron|DOC2A_uc002dvo.2_Silent_p.G46G|DOC2A_uc002dvp.2_Silent_p.G46G|DOC2A_uc002dvq.2_Silent_p.G46G	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	46	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						cgccgcccccgccgcccccTT	0.567		NaN											0	0	0	0.010729	0	8	60				
ADCY7	113	broad.mit.edu	37	16	50339459	50339459	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:50339459C>T	uc002egd.1	+	12	1909	c.1641C>T	c.(1639-1641)GAC>GAT	p.D547D	ADCY7_uc002egc.1_Silent_p.D547D	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	547	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGTACGATGACGAGATGCTGT	0.597		NaN											0	0	0	0.008871	0	18	179				
CHD9	80205	broad.mit.edu	37	16	53341818	53341818	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:53341818G>A	uc002ehb.2	+	32	7170	c.7006G>A	c.(7006-7008)GTG>ATG	p.V2336M	CHD9_uc002egy.2_Splice_Site_p.K2335_splice|CHD9_uc002ehc.2_Splice_Site_p.K2336_splice|CHD9_uc002ehf.2_Splice_Site_p.K1449_splice|CHD9_uc010cbw.2_Missense_Mutation_p.V402M|CHD9_uc002ehg.1_Missense_Mutation_p.V343M	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2336	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GATGTCAAAGGTGAAGAAGCA	0.473		NaN											0	0	0	0.000602	0	4	38				
NAE1	8883	broad.mit.edu	37	16	66860670	66860670	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:66860670G>A	uc002eqf.2	-	2	144	c.67C>T	c.(67-69)CAT>TAT	p.H23Y	NAE1_uc002eqe.2_Missense_Mutation_p.H17Y|NAE1_uc002eqg.2_Intron|NAE1_uc010cdv.2_Missense_Mutation_p.H23Y|NAE1_uc010cdw.1_Intron	NM_003905	NP_003896	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1 isoform a	23					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCTTGCCCATGATCACCCCAC	0.358		NaN											0	0	0	0.006214	0	10	84				
KIAA0895L	653319	broad.mit.edu	37	16	67213339	67213339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67213339C>A	uc002ert.2	-	4	1616	c.841G>T	c.(841-843)GAG>TAG	p.E281*	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Nonsense_Mutation_p.E281*|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	281											0						TGACCTATCTCATGCCGCAGC	0.622		NaN											1	0	3.52763e-06	0.00499	3.71453e-06	13	121				
KIAA0895L	653319	broad.mit.edu	37	16	67213361	67213361	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67213361C>G	uc002ert.2	-	4	1594	c.819G>C	c.(817-819)TGG>TGC	p.W273C	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Missense_Mutation_p.W273C|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	273											0						TGCCCTCCAACCAGTACTGGC	0.627		NaN											0	0	0	0.006122	0	11	105				
EXOC3L	283849	broad.mit.edu	37	16	67221161	67221161	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:67221161G>T	uc002erx.1	-	5	1248	c.1007C>A	c.(1006-1008)GCC>GAC	p.A336D	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.A280D|EXOC3L_uc010vje.1_Missense_Mutation_p.A275D	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	336	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GTGCAGCAAGGCGAAGGCATC	0.627		NaN											1	0	2.17888e-05	0.006214	2.27922e-05	10	67				
DPEP3	64180	broad.mit.edu	37	16	68009821	68009821	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:68009821G>A	uc002evc.3	-	10	1483	c.1389C>T	c.(1387-1389)CTC>CTT	p.L463L	DPEP3_uc010cex.2_Silent_p.L462L	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	438					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCTGAGGCACGAGGTGGGAGT	0.602		NaN											0	0	0	0.00308	0	7	55				
FUK	197258	broad.mit.edu	37	16	70513198	70513198	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:70513198C>T	uc002eyy.2	+	23	3103	c.3045C>T	c.(3043-3045)CAC>CAT	p.H1015H	FUK_uc010cft.2_Silent_p.H1021H|FUK_uc002eyz.2_Silent_p.H506H	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	1015						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				TGGCCCCCCACGTGCATGGCC	0.632		NaN											0	0	0	0.000602	0	4	75				
MTHFSD	64779	broad.mit.edu	37	16	86565621	86565621	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:86565621T>C	uc002fjn.2	-	8	1199	c.1148A>G	c.(1147-1149)AAG>AGG	p.K383R	MTHFSD_uc010voo.1_Missense_Mutation_p.K363R|MTHFSD_uc002fjo.2_Missense_Mutation_p.K220R|MTHFSD_uc002fjm.2_Missense_Mutation_p.K382R|MTHFSD_uc010vop.1_Missense_Mutation_p.K220R|MTHFSD_uc010voq.1_Missense_Mutation_p.K382R|MTHFSD_uc010vor.1_Missense_Mutation_p.K383R	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	383					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						ACGAGGTCACTTGTCCCTCTG	0.701		NaN											0	0	0	0.004672	0	3	18				
GEMIN4	50628	broad.mit.edu	37	17	649462	649462	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:649462G>C	uc002frs.1	-	2	1940	c.1821C>G	c.(1819-1821)CTC>CTG	p.L607L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	607					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGGTTTCTTTGAGGCATGACA	0.502		NaN											0	0	0	0.008871	0	18	150				
PFN1	5216	broad.mit.edu	37	17	4849269	4849269	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:4849269C>G	uc002gaa.2	-	3	485	c.349G>C	c.(349-351)GAA>CAA	p.E117Q	PFN1_uc002fzz.2_Missense_Mutation_p.E81Q	NM_005022	NP_005013	P07737	PROF1_HUMAN	profilin 1	117					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding				0						TGGACACCTTCTTTGCCCATC	0.552		NaN											0	0	0	0.003163	0	15	65				
CAMTA2	23125	broad.mit.edu	37	17	4876139	4876139	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:4876139C>G	uc002gah.1	-	15	2536	c.2428G>C	c.(2428-2430)GAG>CAG	p.E810Q	CAMTA2_uc010cku.1_Missense_Mutation_p.E833Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E809Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E812Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E457Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	810	ANK 3.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TGTAGTTCCTCAAGGCAGCGG	0.612		NaN											0	0	0	0.01441	0	50	164				
FBXO39	162517	broad.mit.edu	37	17	6683806	6683806	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:6683806C>T	uc010vtg.1	+	2	739	c.619C>T	c.(619-621)CAC>TAC	p.H207Y		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	207										ovary(1)|skin(1)	2						TTTCAGCCATCACCTTGCTGT	0.493		NaN											0	0	0	0.00245	0	15	81				
BCL6B	255877	broad.mit.edu	37	17	6928501	6928501	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:6928501C>T	uc002geg.2	+	5	928	c.871C>T	c.(871-873)CGG>TGG	p.R291W	BCL6B_uc010clt.1_Missense_Mutation_p.R292W	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	291						nucleus	zinc ion binding			skin(1)	1						ACCCTCTGAACGGGCTCGTCC	0.557		NaN											0	0	0	0.006214	0	10	158				
NTN1	9423	broad.mit.edu	37	17	8925911	8925911	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:8925911C>T	uc002glw.3	+	2	328	c.221C>T	c.(220-222)CCG>CTG	p.P74L		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	74	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GGCCGGCCCCCGGCGCGCTAC	0.726		NaN											0	0	0	0.004672	0	3	10				
GLP2R	9340	broad.mit.edu	37	17	9729386	9729386	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:9729386G>C	uc002gmd.1	+	1	6	c.6G>C	c.(4-6)AAG>AAC	p.K2N	GLP2R_uc010cog.1_RNA	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	2	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGAAGATGAAGCTGGGATCGA	0.632		NaN											0	0	0	0.001984	0	6	26				
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:39197393T>C	uc002hvw.1	-	1	321	c.257A>G	c.(256-258)TAC>TGC	p.Y86C		NM_030967	NP_112229	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7).			extracellular region|keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587		NaN											0	0	0	0.009096	0	4	124				
HDAC5	10014	broad.mit.edu	37	17	42171034	42171034	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:42171034T>A	uc002ifd.1	-	4	474	c.263A>T	c.(262-264)CAG>CTG	p.Q88L	HDAC5_uc002ife.1_Missense_Mutation_p.Q88L|HDAC5_uc002iff.1_Missense_Mutation_p.Q89L|HDAC5_uc010czp.1_Missense_Mutation_p.Q88L|HDAC5_uc002ifh.2_Missense_Mutation_p.Q88L	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	88	Poly-Gln.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		cttctgcagctgctgctgctg	0.408		NaN											0	0	0	0.004672	0	3	32				
XYLT2	64132	broad.mit.edu	37	17	48431297	48431297	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:48431297G>C	uc002iqo.2	+	2	551	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	148	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					AGGGAGCGTGGAGGGCGCCCC	0.692		NaN											0	0	0	0.004482	0	9	47				
NACA2	342538	broad.mit.edu	37	17	59668370	59668370	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:59668370C>T	uc002izj.2	-	1	198	c.172G>A	c.(172-174)GAA>AAA	p.E58K		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	58					protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)					TCATCAATTTCAGCTGCTGCC	0.493		NaN											0	0	0	0.003755	0	37	165				
H3F3B	3021	broad.mit.edu	37	17	73774687	73774687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:73774687C>G	uc002jpl.2	-	4	533	c.400G>C	c.(400-402)GAG>CAG	p.E134Q		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	134					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			ovary(1)	1	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGCTCTCTCTCCCCGTATC	0.418		NaN											0	0	0	0.010818	0	32	132				
UNC13D	201294	broad.mit.edu	37	17	73824054	73824054	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:73824054C>T	uc002jpp.2	-	32	3645	c.3265G>A	c.(3265-3267)GCA>ACA	p.A1089T		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	1089					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTACGGTGCCGGCCGCAAG	0.697		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	0.004672	0	3	24				
TMC6	11322	broad.mit.edu	37	17	76120607	76120607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:76120607C>T	uc002juj.1	-	7	1015	c.889G>A	c.(889-891)GCG>ACG	p.A297T	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.A130T|TMC6_uc002juk.2_Missense_Mutation_p.A297T|TMC6_uc010dhg.1_Missense_Mutation_p.A297T|TMC6_uc002jul.1_Missense_Mutation_p.A297T|TMC6_uc002jum.3_Missense_Mutation_p.A88T|TMC6_uc002jun.3_Missense_Mutation_p.A297T|TMC6_uc002juo.2_Missense_Mutation_p.A70T|TMC6_uc010wtp.1_Missense_Mutation_p.A130T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	297	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCCTCACCGCGCCTGTGAGG	0.697		NaN							Epidermodysplasia_Verruciformis_Familial_Clustering_of				0	0	0	0.001984	0	6	38				
BAHCC1	57597	broad.mit.edu	37	17	79426591	79426591	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:79426591C>G	uc002kaf.2	+	21	5866	c.5866C>G	c.(5866-5868)CAG>GAG	p.Q1956E	BAHCC1_uc002kae.2_Missense_Mutation_p.Q1186E	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	1956							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTACTGGAGTCAGAAGTCTCG	0.657		NaN											0	0	0	0.003163	0	14	98				
FSCN2	25794	broad.mit.edu	37	17	79503966	79503966	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:79503966G>C	uc010wup.1	+	5	1480	c.1339G>C	c.(1339-1341)GAG>CAG	p.E447Q	FSCN2_uc010wuo.1_Missense_Mutation_p.E471Q	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	447					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAACGCGCCGAGGACTTCGT	0.761		NaN											0	0	0	0.001168	0	6	14				
ENOSF1	55556	broad.mit.edu	37	18	691231	691231	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:691231C>T	uc002kku.3	-	6	544	c.469G>A	c.(469-471)GAT>AAT	p.D157N	ENOSF1_uc002kkt.3_Missense_Mutation_p.D75N|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.D178N|ENOSF1_uc002kkv.3_Missense_Mutation_p.D157N|ENOSF1_uc002kkw.3_Intron|ENOSF1_uc002kkx.3_Intron|ENOSF1_uc010wyt.1_RNA	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	157					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GTCAGGACATCAGTGATGTAC	0.483		NaN											0	0	0	0.001168	0	5	83				
LAMA3	3909	broad.mit.edu	37	18	21427492	21427492	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:21427492G>A	uc002kuq.2	+	32	4082	c.3996G>A	c.(3994-3996)ACG>ACA	p.T1332T	LAMA3_uc002kur.2_Silent_p.T1332T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1332	Laminin EGF-like 10.|Domain III B.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCGCACGGTCAGGCCCC	0.622		NaN											0	0	0	0.00308	0	8	78				
SMAD7	4092	broad.mit.edu	37	18	46476250	46476250	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:46476250G>C	uc002ldg.2	-	1	832	c.545C>G	c.(544-546)TCT>TGT	p.S182C	SMAD7_uc010xde.1_5'Flank	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	182	MH1.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					CTTCCCGTAAGATTCACAGCA	0.572		NaN									OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	53				
KCNG2	26251	broad.mit.edu	37	18	77659423	77659423	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr18:77659423C>T	uc010xfl.1	+	2	1008	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	336	Helical; Name=Segment S5; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGGCGCTCTTCGCGCCACTGG	0.716		NaN											0	0	0	0.000602	0	5	11				
SGTA	6449	broad.mit.edu	37	19	2762518	2762518	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:2762518C>T	uc002lwi.1	-	7	769	c.622G>A	c.(622-624)GAG>AAG	p.E208K		NM_003021	NP_003012	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide	208					interspecies interaction between organisms	cytoplasm	protein binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGGCCTCCCGCAGCTTC	0.647		NaN											0	0	0	0.010729	0	12	111				
LRG1	116844	broad.mit.edu	37	19	4538457	4538457	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:4538457G>T	uc002mau.2	-	2	550	c.539C>A	c.(538-540)CCC>CAC	p.P180H	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	180	LRR 4.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCGGGGGGCAGTTTCCG	0.622		NaN											1	0	1.96895e-08	0.00278	2.11529e-08	25	265				
FBN3	84467	broad.mit.edu	37	19	8152753	8152753	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:8152753C>G	uc002mjf.2	-	52	6596	c.6575G>C	c.(6574-6576)TGT>TCT	p.C2192S	FBN3_uc002mje.2_Missense_Mutation_p.C31S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2192	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCCGGCTGGACAGGTGCACAG	0.453		NaN											0	0	0	0.013537	0	12	157				
MYO1F	4542	broad.mit.edu	37	19	8591788	8591788	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:8591788C>G	uc002mkg.2	-	23	2620	c.2506G>C	c.(2506-2508)GAG>CAG	p.E836Q		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	836						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GCGGCATCCTCTTGGAGGATG	0.627		NaN											0	0	0	0.000602	0	5	63				
ZNF846	162993	broad.mit.edu	37	19	9868414	9868414	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:9868414C>T	uc002mmb.1	-	6	1870	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.E318K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGGCCTTTTCTCCAGTGTGA	0.438		NaN											0	0	0	0.00499	0	17	69				
TYK2	7297	broad.mit.edu	37	19	10475384	10475384	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:10475384G>A	uc002moc.3	-	9	1651	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	TYK2_uc010dxe.2_Missense_Mutation_p.R240C|TYK2_uc002mod.2_Missense_Mutation_p.R425C	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	425	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCGTCAGGCGGAAATAGCCG	0.672		NaN											0	0	0	0.014323	0	22	79				
ARRDC2	27106	broad.mit.edu	37	19	18120728	18120728	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:18120728C>T	uc002nhv.2	+	5	872	c.729C>T	c.(727-729)CTC>CTT	p.L243L	ARRDC2_uc002nhu.2_Silent_p.L238L	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	243										pancreas(1)	1						TGGCCAGCCTCGCGGGCGAGC	0.716		NaN											0	0	0	0.00308	0	8	96				
ARHGAP33	115703	broad.mit.edu	37	19	36278974	36278974	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:36278974C>T	uc002obs.1	+	21	3109	c.3024C>T	c.(3022-3024)TAC>TAT	p.Y1008Y	ARHGAP33_uc002obt.1_Silent_p.Y1005Y|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.Y757Y	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1169					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						AGCCCCTCTACGTCAACCTAG	0.682		NaN											0	0	0	0.003163	0	15	80				
LIPE	3991	broad.mit.edu	37	19	42910494	42910494	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:42910494C>T	uc002otr.2	-	7	2461	c.2184G>A	c.(2182-2184)GGG>GGA	p.G728G	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	728					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				AGCAGAGGTTCCCGCCTGCAC	0.662		NaN											0	0	0	0.001984	0	7	42				
NKPD1	284353	broad.mit.edu	37	19	45656023	45656023	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:45656023G>A	uc010xxi.1	-	4	1672	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CACGGCTTGCGCGTCATCTCG	0.721		NaN											0	0	0	0.001168	0	5	16				
CCDC9	26093	broad.mit.edu	37	19	47773835	47773835	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:47773835G>A	uc010xym.1	+	10	1182	c.975G>A	c.(973-975)CCG>CCA	p.P325P		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	325											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCGGCCCCCGAAGCCCCCTA	0.642		NaN											0	0	0	0.010729	0	9	109				
SIGLEC9	27180	broad.mit.edu	37	19	51628543	51628543	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:51628543G>A	uc002pvu.2	+	1	379	c.312G>A	c.(310-312)CTG>CTA	p.L104L	SIGLEC9_uc010yct.1_Silent_p.L104L	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	104	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATTGCACCCTGAGCATCAGAG	0.507		NaN											0	0	0	0.006122	0	19	115				
ZNF524	147807	broad.mit.edu	37	19	56113573	56113573	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:56113573G>A	uc002qlk.1	+	2	178	c.95G>A	c.(94-96)CGA>CAA	p.R32Q	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGGCCGCCGAGGCCGTCGT	0.682		NaN											0	0	0	0.00308	0	8	45				
PEG3	5178	broad.mit.edu	37	19	57335705	57335705	+	Silent	SNP	G	G	T	rs141346770	by1000genomes	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:57335705G>T	uc002qnu.2	-	1	670	c.319C>A	c.(319-321)CGA>AGA	p.R107R	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Silent_p.R107R|PEG3_uc002qnv.2_Silent_p.R107R|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.R107R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	107	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTTTGCTCGCACCCAAGGC	0.537		NaN											1	0	0.00136819	0.013537	0.00140804	13	154				
ZNF551	90233	broad.mit.edu	37	19	58198725	58198725	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:58198725G>A	uc002qpw.3	+	3	1257	c.1034G>A	c.(1033-1035)AGG>AAG	p.R345K	ZNF551_uc002qpv.3_Missense_Mutation_p.R288K|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGGAGAAAGGCCTTATGAA	0.468		NaN											0	0	0	0.010729	0	11	141				
ZNF329	79673	broad.mit.edu	37	19	58639742	58639742	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr19:58639742C>T	uc002qrn.2	-	4	1366	c.1129G>A	c.(1129-1131)GGG>AGG	p.G377R	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	377	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AAGGATTTCCCGCACTCTGCA	0.478		NaN											0	0	0	0.013537	0	12	137				
TRIB2	28951	broad.mit.edu	37	2	12863643	12863643	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:12863643C>T	uc002rbv.3	+	2	1964	c.528C>T	c.(526-528)CTC>CTT	p.L176L	TRIB2_uc010yjp.1_Silent_p.L40L	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	176	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCGGGACCTCAAGCTGCGGA	0.562		NaN											0	0	0	0.013537	0	12	89				
APOB	338	broad.mit.edu	37	2	21229266	21229266	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:21229266T>A	uc002red.2	-	26	10602	c.10474A>T	c.(10474-10476)ATT>TTT	p.I3492F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3492	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGACTCAATGGAAAAGTAA	0.418		NaN											0	0	0	0.006122	0	19	83				
KRTCAP3	200634	broad.mit.edu	37	2	27665507	27665507	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:27665507C>T	uc002rks.2	+	2	107	c.90C>T	c.(88-90)CAC>CAT	p.H30H	KRTCAP3_uc010ylr.1_Silent_p.H30H|KRTCAP3_uc002rkt.2_Silent_p.H12H	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	30	Helical; (Potential).					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					TGGTGGGCCACGTGAACCTGC	0.597		NaN											0	0	0	0.001168	0	6	27				
FAM179A	165186	broad.mit.edu	37	2	29268244	29268244	+	Missense_Mutation	SNP	G	G	A	rs150801790		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:29268244G>A	uc010ezl.2	+	19	3041	c.2690G>A	c.(2689-2691)CGT>CAT	p.R897H	FAM179A_uc010ymm.1_Missense_Mutation_p.R842H|FAM179A_uc002rmr.3_Missense_Mutation_p.R424H|FAM179A_uc002rms.1_Missense_Mutation_p.R195H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	897							binding			ovary(3)|skin(1)	4						CTGAGTGGCCGTGCGGTGCTG	0.612		NaN											0	0	0	0.010504	0	19	102				
NLRC4	58484	broad.mit.edu	37	2	32476278	32476278	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:32476278G>C	uc002roi.2	-	4	901	c.655C>G	c.(655-657)CAA>GAA	p.Q219E	NLRC4_uc002roj.1_Missense_Mutation_p.Q219E|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	219	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGGAGTTGATCACAGAGG	0.517		NaN											0	0	0	0.00245	0	15	71				
CCDC88A	55704	broad.mit.edu	37	2	55566659	55566659	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:55566659C>G	uc002ryv.2	-	13	2301	c.1459G>C	c.(1459-1461)GAA>CAA	p.E487Q	CCDC88A_uc010yoz.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E389Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	487	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GCATTGCCTTCTACAGAATCC	0.323		NaN											0	0	0	0.000602	0	5	61				
HK2	3099	broad.mit.edu	37	2	75116424	75116424	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:75116424G>C	uc002snd.2	+	17	4354	c.2428G>C	c.(2428-2430)GAG>CAG	p.E810Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	810	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						CTTAGGGCTTGAGAGCACCTG	0.617		NaN											0	0	0	0.004482	0	8	44				
REG1A	5967	broad.mit.edu	37	2	79348757	79348757	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:79348757C>T	uc002snz.2	+	3	237	c.134C>T	c.(133-135)TCC>TTC	p.S45F	REG1A_uc010ffx.1_Missense_Mutation_p.S45F|REG1A_uc010ysd.1_Missense_Mutation_p.S45F	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	45	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						GCCTATCGCTCCTACTGCTAC	0.542		NaN											0	0	0	0.006214	0	10	480				
VWA3B	200403	broad.mit.edu	37	2	98804557	98804557	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:98804557G>C	uc002syo.2	+	10	1695	c.1431G>C	c.(1429-1431)GAG>GAC	p.E477D	VWA3B_uc010yvh.1_Missense_Mutation_p.E327D|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.E477D|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.E134D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	477										ovary(3)|large_intestine(2)|skin(1)	6						GGTACAGTGAGAGAATCCACA	0.502		NaN											0	0	0	0.010504	0	20	95				
LONRF2	164832	broad.mit.edu	37	2	100903525	100903525	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:100903525C>T	uc002tal.3	-	11	2561	c.1921G>A	c.(1921-1923)GTG>ATG	p.V641M	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	641	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						GGACCCTCCACCTGATCAGGG	0.507		NaN											0	0	0	0.001168	0	5	41				
BUB1	699	broad.mit.edu	37	2	111408235	111408235	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:111408235A>G	uc002tgc.2	-	18	2203	c.2091T>C	c.(2089-2091)GCT>GCC	p.A697A	BUB1_uc010yxh.1_Silent_p.A677A|BUB1_uc010fkb.2_Silent_p.A697A	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	697					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGTCTGCAAGCCTCAACGC	0.537		NaN											0	0	0	0.009096	0	4	39				
BUB1	699	broad.mit.edu	37	2	111408294	111408294	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:111408294G>C	uc002tgc.2	-	18	2144	c.2032C>G	c.(2032-2034)CTG>GTG	p.L678V	BUB1_uc010yxh.1_Missense_Mutation_p.L658V|BUB1_uc010fkb.2_Missense_Mutation_p.L678V	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	678					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTGGCTCAGACGAAGTAAG	0.502		NaN											0	0	0	0.004672	0	3	48				
CNTNAP5	129684	broad.mit.edu	37	2	125671724	125671724	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:125671724G>C	uc002tno.2	+	24	4144	c.3780G>C	c.(3778-3780)CGG>CGC	p.R1260R	CNTNAP5_uc010flu.2_Silent_p.R1261R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1260	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCATGACCCGGTTCCTCTACC	0.453		NaN											0	0	0	0.004482	0	8	160				
SAP130	79595	broad.mit.edu	37	2	128767935	128767935	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:128767935G>C	uc002tpp.2	-	7	987	c.855C>G	c.(853-855)ATC>ATG	p.I285M	SAP130_uc002tpn.2_Missense_Mutation_p.I46M|SAP130_uc002tpo.2_Missense_Mutation_p.I30M|SAP130_uc010fmd.2_Missense_Mutation_p.I285M|SAP130_uc002tpq.1_Missense_Mutation_p.I259M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	285					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCAGGAGGGATGGCATTGG	0.448		NaN											0	0	0	0.009096	0	4	94				
XIRP2	129446	broad.mit.edu	37	2	168101899	168101899	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:168101899G>C	uc002udx.2	+	8	4015	c.3997G>C	c.(3997-3999)GAA>CAA	p.E1333Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1158Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E1111Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1158					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTCCTATCATGAAGTGACCAC	0.383		NaN											0	0	0	0.006214	0	10	60				
LRP2	4036	broad.mit.edu	37	2	170055326	170055326	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:170055326C>G	uc002ues.2	-	45	8761	c.8548G>C	c.(8548-8550)GAT>CAT	p.D2850H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2850	LDL-receptor class A 19.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCACTGTTATCTCCACAGTCA	0.378		NaN											0	0	0	0.009096	0	3	38				
SGOL2	151246	broad.mit.edu	37	2	201436243	201436243	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:201436243G>A	uc002uvw.2	+	7	1287	c.1174G>A	c.(1174-1176)GAA>AAA	p.E392K	SGOL2_uc010zhd.1_Missense_Mutation_p.E392K|SGOL2_uc010zhe.1_Missense_Mutation_p.E392K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	392					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAAAACAAATGAACATGGAAT	0.318		NaN											0	0	0	0.001168	0	6	56				
CUL3	8452	broad.mit.edu	37	2	225371615	225371615	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:225371615G>T	uc002vny.2	-	7	1373	c.989C>A	c.(988-990)TCT>TAT	p.S330Y	CUL3_uc010zls.1_Missense_Mutation_p.S264Y|CUL3_uc010fwy.1_Missense_Mutation_p.S336Y	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	330					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCTTCAGAAACAAGAGC	0.378		NaN											1	0	0.00307968	0.00308	0.00312888	8	45				
HDLBP	3069	broad.mit.edu	37	2	242169088	242169088	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:242169088G>A	uc002waz.2	-	28	3963	c.3735C>T	c.(3733-3735)AGC>AGT	p.S1245S	HDLBP_uc002wba.2_Silent_p.S1245S|HDLBP_uc002wbb.2_Silent_p.S1197S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1245					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCAGAGCTGCTCATGTCAG	0.582		NaN											0	0	0	0.001984	0	6	43				
ProSAPiP1	9762	broad.mit.edu	37	20	3146671	3146671	+	Silent	SNP	A	A	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:3146671A>C	uc002wia.1	-	2	2193	c.795T>G	c.(793-795)GGT>GGG	p.G265G	ProSAPiP1_uc002wib.1_Silent_p.G265G	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	265						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CCGACCCCCCACCGCTGCTGC	0.657		NaN											0	0	0	0.008871	0	6	46				
C20orf194	25943	broad.mit.edu	37	20	3270794	3270794	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:3270794G>C	uc002wii.2	-	26	2359	c.2308C>G	c.(2308-2310)CTG>GTG	p.L770V	C20orf194_uc002wij.3_Missense_Mutation_p.L509V|C20orf194_uc002wik.2_Missense_Mutation_p.L444V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	770											0						TCCTTATGCAGAGTGACCAGA	0.478		NaN											0	0	0	0.009718	0	42	310				
KIF16B	55614	broad.mit.edu	37	20	16359644	16359644	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:16359644C>G	uc002wpg.1	-	19	3161	c.3003G>C	c.(3001-3003)CAG>CAC	p.Q1001H	KIF16B_uc002wpe.1_Missense_Mutation_p.Q383H|KIF16B_uc002wpf.1_Missense_Mutation_p.Q383H|KIF16B_uc010gch.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gci.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gcj.1_Missense_Mutation_p.Q1012H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1001	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GCGCCTCTCTCTGCTGCTTCT	0.552		NaN											0	0	0	0.00499	0	18	164				
NINL	22981	broad.mit.edu	37	20	25456923	25456923	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:25456923C>T	uc002wux.1	-	17	3078	c.3004G>A	c.(3004-3006)GAG>AAG	p.E1002K	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1002					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGGGCGCCCTCGGCCCGGGCC	0.677		NaN											0	0	0	0.013537	0	12	94				
WFDC3	140686	broad.mit.edu	37	20	44416554	44416554	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:44416554C>G	uc002xpf.1	-	4	363	c.279G>C	c.(277-279)GAG>GAC	p.E93D	WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	93	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				CTGGACATGTCTCATCAGTGA	0.463		NaN											0	0	0	0.001168	0	6	73				
WFDC3	140686	broad.mit.edu	37	20	44417657	44417657	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:44417657C>G	uc002xpf.1	-	3	208	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	42	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TGGCACAGCTCTTTGCATGGG	0.512		NaN											0	0	0	0.006122	0	16	249				
CTCFL	140690	broad.mit.edu	37	20	56098314	56098314	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr20:56098314C>T	uc010gix.1	-	2	1226	c.564G>A	c.(562-564)AAG>AAA	p.K188K	CTCFL_uc010giw.1_Silent_p.K188K|CTCFL_uc002xym.2_Silent_p.K188K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.K188K|CTCFL_uc010gjb.1_Silent_p.K188K|CTCFL_uc010gjc.1_Silent_p.K188K|CTCFL_uc010gjd.1_Silent_p.K188K|CTCFL_uc010gje.2_Silent_p.K188K|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.K188K|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.K188K|CTCFL_uc010gjk.1_Silent_p.K188K|CTCFL_uc010gjl.1_Silent_p.K188K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	188					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATAACTGGTTCTTCTCCTGCT	0.353		NaN											0	0	0	0.008291	0	11	74				
DSCAM	1826	broad.mit.edu	37	21	41684108	41684108	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr21:41684108C>G	uc002yyq.1	-	9	2414	c.1962G>C	c.(1960-1962)TTG>TTC	p.L654F	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	654	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAAATCCTCAAGGAGCTCG	0.547		NaN											0	0	0	0.001168	0	6	133				
KRTAP10-11	386678	broad.mit.edu	37	21	46066950	46066950	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr21:46066950T>C	uc002zfr.3	+	1	620	c.575T>C	c.(574-576)GTC>GCC	p.V192A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	192	25 X 5 AA repeats of C-C-X(3).|18.					keratin filament				ovary(1)	1						TGCGTGCCTGTCTGCTGCAAG	0.607		NaN											0	0	0	0.008361	0	31	399				
PLXNB2	23654	broad.mit.edu	37	22	50720031	50720031	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr22:50720031C>G	uc003bkv.3	-	21	3592	c.3486G>C	c.(3484-3486)CAG>CAC	p.Q1162H	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.Q147H	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1162	Extracellular (Potential).			RQKR->AQKA: Abolishes cleavage by proprotein convertases.	regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCTCGTTTCTGCCGCCGCT	0.697		NaN											0	0	0	0.007413	0	16	77				
FANCD2	2177	broad.mit.edu	37	3	10089628	10089628	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:10089628C>A	uc003buw.2	+	16	1384	c.1306C>A	c.(1306-1308)CTG>ATG	p.L436M	FANCD2_uc003bux.1_Missense_Mutation_p.L436M|FANCD2_uc003buy.1_Missense_Mutation_p.L436M|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	436					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATCCATTCTGTCGCTGGC	0.393		NaN	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				1	0	5.45024e-15	0.00333	5.99715e-15	26	255				
ATP2B2	491	broad.mit.edu	37	3	10442706	10442706	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:10442706C>T	uc003bvt.2	-	5	1151	c.712G>A	c.(712-714)GAA>AAA	p.E238K	ATP2B2_uc003bvv.2_Missense_Mutation_p.E238K|ATP2B2_uc003bvw.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	238	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGGGAGCTTTCATCAATCTTG	0.592		NaN											0	0	0	0.004007	0	17	84				
PPARG	5468	broad.mit.edu	37	3	12447544	12447544	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:12447544G>C	uc003bwx.2	+	5	874	c.783G>C	c.(781-783)GCG>GCC	p.A261A	PPARG_uc003bwr.2_Silent_p.A233A|PPARG_uc003bws.2_Silent_p.A233A|PPARG_uc003bwu.2_Silent_p.A233A|PPARG_uc003bwv.2_Silent_p.A233A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A233A|PPARG_uc003bwt.1_Silent_p.A233A|PPARG_uc003bww.1_Silent_p.A261A	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	261	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGCAAAGGCGAGGGCGATCT	0.478		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						0	0	0	0.004482	0	9	53				
CAND2	23066	broad.mit.edu	37	3	12861592	12861592	+	Silent	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:12861592A>G	uc003bxk.2	+	11	3001	c.2952A>G	c.(2950-2952)CCA>CCG	p.P984P	CAND2_uc003bxj.2_Silent_p.P891P	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	984	HEAT 21.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CAGGTCGGCCACACACCCGGA	0.597		NaN											0	0	0	0.001855	0	14	106				
C3orf35	339883	broad.mit.edu	37	3	37476522	37476522	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:37476522C>T	uc003cha.3	+	6	1078	c.414C>T	c.(412-414)GCC>GCT	p.A138A		NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	AP20 region protein isoform B	138						integral to membrane				central_nervous_system(1)	1						GTGGGGATGCCTGGAAAACAA	0.473		NaN											0	0	0	0.009096	0	4	49				
XIRP1	165904	broad.mit.edu	37	3	39230134	39230134	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:39230134G>T	uc003cjk.1	-	2	1024	c.803C>A	c.(802-804)TCT>TAT	p.S268Y	XIRP1_uc003cji.2_Missense_Mutation_p.S268Y|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	268	Xin 6.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGCGGGCAGACCTCACCGC	0.662		NaN											1	0	1.22574e-08	0.014323	1.3213e-08	23	91				
CTNNB1	1499	broad.mit.edu	37	3	41278172	41278172	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:41278172T>A	uc010hia.1	+	14	2204	c.2048T>A	c.(2047-2049)TTC>TAC	p.F683Y	CTNNB1_uc003ckp.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckq.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.F683Y|CTNNB1_uc011azf.1_Missense_Mutation_p.F676Y|CTNNB1_uc011azg.1_Missense_Mutation_p.F611Y|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_3'UTR	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	683					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGCTCTCTCTTCAGAACAGAG	0.458		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				0	0	0	0.010729	0	11	158				
CCR5	1234	broad.mit.edu	37	3	46414768	46414768	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:46414768T>C	uc003cpo.3	+	3	497	c.375T>C	c.(373-375)GAT>GAC	p.D125D	CCR5_uc010hjd.2_Silent_p.D125D	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	125	Cytoplasmic (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGACAATCGATAGGTACCTGG	0.478		NaN											0	0	0	0.006214	0	10	209				
KLHDC8B	200942	broad.mit.edu	37	3	49211748	49211748	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:49211748T>C	uc003cwh.2	+	3	638	c.453T>C	c.(451-453)CGT>CGC	p.R151R	KLHDC8B_uc003cwi.1_Silent_p.R24R	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	151	Kelch 4.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGAGCCCCGTCGGGACTGCT	0.597		NaN											0	0	0	0.006214	0	10	117				
AMIGO3	386724	broad.mit.edu	37	3	49756220	49756220	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:49756220G>A	uc003cxj.2	-	1	1019	c.679C>T	c.(679-681)CTC>TTC	p.L227F	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	227	Extracellular (Potential).|LRRCT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTGGTAGAGGCGGCAGTCG	0.657		NaN											0	0	0	0.00308	0	8	86				
MAGI1	9223	broad.mit.edu	37	3	65365145	65365145	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:65365145C>T	uc003dmn.2	-	17	3312	c.2786G>A	c.(2785-2787)CGC>CAC	p.R929H	MAGI1_uc003dmm.2_Missense_Mutation_p.R957H|MAGI1_uc003dmo.2_Missense_Mutation_p.R957H|MAGI1_uc003dmp.2_Missense_Mutation_p.R929H|MAGI1_uc003dmq.1_RNA|MAGI1_uc010hnx.1_Missense_Mutation_p.R240H	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	957					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCGGAGTGCGCTTCTCTTC	0.453		NaN											0	0	0	0.00499	0	16	121				
ROBO2	6092	broad.mit.edu	37	3	77600062	77600062	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:77600062G>A	uc003dpy.3	+	8	1796	c.1153G>A	c.(1153-1155)GAC>AAC	p.D385N	ROBO2_uc003dpz.2_Missense_Mutation_p.D389N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D389N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	385	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAACGTTCCGACGCGGGTTA	0.473		NaN											0	0	0	0.001984	0	7	74				
CCDC80	151887	broad.mit.edu	37	3	112358447	112358447	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:112358447C>T	uc003dzf.2	-	2	524	c.306G>A	c.(304-306)GTG>GTA	p.V102V	CCDC80_uc011bhv.1_Silent_p.V102V|CCDC80_uc003dzg.2_Silent_p.V102V|CCDC80_uc003dzh.1_Silent_p.V102V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	102										ovary(2)	2						GCTCAGGTCTCACGGCGGCCC	0.607		NaN											0	0	0	0.005443	0	25	135				
PRR23B	389151	broad.mit.edu	37	3	138738765	138738765	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:138738765G>A	uc003esy.1	-	1	1004	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	247	Pro-rich.									breast(1)	1						AGCGGCGAGCGCGCGTGGGGA	0.657		NaN											0	0	0	0.010729	0	12	84				
LRRIQ4	344657	broad.mit.edu	37	3	169540297	169540297	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:169540297C>T	uc003fgb.2	+	1	588	c.588C>T	c.(586-588)GAC>GAT	p.D196D		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	196	LRR 8.										0						TTGACCTGGACGAGAACAAAA	0.517		NaN											0	0	0	0.010729	0	12	142				
C3orf43	255798	broad.mit.edu	37	3	196234952	196234952	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:196234952C>T	uc003fws.2	-	3	608	c.451G>A	c.(451-453)GAA>AAA	p.E151K	C3orf43_uc003fwr.2_Missense_Mutation_p.E143K	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	151						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		GTATAGTGTTCTGCCTTGTTA	0.463		NaN											0	0	0	0.013537	0	13	105				
FGFRL1	53834	broad.mit.edu	37	4	1019074	1019074	+	Missense_Mutation	SNP	A	A	T	rs77570255		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:1019074A>T	uc003gce.2	+	7	1615	c.1454A>T	c.(1453-1455)CAC>CTC	p.H485L	FGFRL1_uc003gcf.2_Missense_Mutation_p.H485L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H485L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H485L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	485	His-rich.|Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacacactctcacaca	0.483		NaN											0	0	0	0.004672	0	3	16				
KLB	152831	broad.mit.edu	37	4	39448824	39448824	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:39448824C>T	uc003gua.2	+	4	2575	c.2478C>T	c.(2476-2478)TTC>TTT	p.F826F	KLB_uc011byj.1_Silent_p.F817F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	826	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						TCAACCACTTCACCACTAGGT	0.657		NaN											0	0	0	0.010504	0	21	90				
LRRC66	339977	broad.mit.edu	37	4	52861415	52861415	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:52861415C>T	uc003gzi.2	-	4	1786	c.1773G>A	c.(1771-1773)ATG>ATA	p.M591I		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	591						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CATGTGTTAGCATTTTACAGA	0.483		NaN											0	0	0	0.013537	0	13	172				
LRRC66	339977	broad.mit.edu	37	4	52861829	52861829	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:52861829C>T	uc003gzi.2	-	4	1372	c.1359G>A	c.(1357-1359)GAG>GAA	p.E453E		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	453						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGTCTGGTTCTCGTAGAGGC	0.542		NaN											0	0	0	0.008291	0	11	115				
IGJ	3512	broad.mit.edu	37	4	71527924	71527924	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:71527924C>T	uc003hfn.3	-	2	214	c.73G>A	c.(73-75)GAT>AAT	p.D25N	IGJ_uc010ihz.2_Missense_Mutation_p.D41N	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	25					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			ATCCTTTCATCTTCTTGGGCT	0.358		NaN											0	0	0	0.008291	0	11	68				
SMARCAD1	56916	broad.mit.edu	37	4	95170811	95170811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:95170811G>T	uc003htc.3	+	7	967	c.712G>T	c.(712-714)GAA>TAA	p.E238*	SMARCAD1_uc003htb.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc003htd.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc010ila.2_Nonsense_Mutation_p.E101*	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	238					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTAGGGAGAGGAATCAAATGA	0.323		NaN											1	0	1.06961e-07	0.00308	1.1414e-07	8	44				
BANK1	55024	broad.mit.edu	37	4	102946423	102946423	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:102946423G>C	uc003hvy.3	+	9	1625	c.1351G>C	c.(1351-1353)GAG>CAG	p.E451Q	BANK1_uc003hvx.3_Missense_Mutation_p.E436Q|BANK1_uc010ill.2_Missense_Mutation_p.E318Q|BANK1_uc003hvz.3_Missense_Mutation_p.E421Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	451					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGATGGAGCTGAGGCAAATGA	0.453		NaN											0	0	0	0.001855	0	14	118				
FAT4	79633	broad.mit.edu	37	4	126240575	126240575	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:126240575C>T	uc003ifj.3	+	1	3009	c.3009C>T	c.(3007-3009)GTC>GTT	p.V1003V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1003	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTTATGAAGTCACCCTTTCTG	0.408		NaN											0	0	0	0.004482	0	7	93				
FAT4	79633	broad.mit.edu	37	4	126411502	126411502	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:126411502G>A	uc003ifj.3	+	17	13525	c.13525G>A	c.(13525-13527)GTG>ATG	p.V4509M	FAT4_uc011cgp.1_Missense_Mutation_p.V2750M|FAT4_uc003ifi.1_Missense_Mutation_p.V1986M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4509	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCCTGCCATCGTGGGCAGCTG	0.577		NaN											0	0	0	0.006214	0	10	111				
LRBA	987	broad.mit.edu	37	4	151771906	151771906	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:151771906G>A	uc010ipj.2	-	24	4448	c.3974C>T	c.(3973-3975)TCA>TTA	p.S1325L	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1325L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1325	WD 1.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGTTTCTATTGAAAATAATAG	0.343		NaN											0	0	0	0.000602	0	5	23				
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:153244185G>A	uc003ims.2	-	12	2121	c.1972C>T	c.(1972-1974)CGA>TGA	p.R658*	FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	658	WD 7.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R658*(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.004482	0	8	121		Valid		
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr4:153247165G>A	uc003ims.2	-	10	1786	c.1637C>T	c.(1636-1638)TCA>TTA	p.S546L	FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	546	WD 5.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								0	0	0	0.001855	0	13	86		Valid		
RNASEN	29102	broad.mit.edu	37	5	31521263	31521263	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:31521263C>G	uc003jhg.2	-	5	1273	c.914G>C	c.(913-915)AGG>ACG	p.R305T	RNASEN_uc003jhh.2_Missense_Mutation_p.R305T|RNASEN_uc003jhi.2_Missense_Mutation_p.R305T|RNASEN_uc010iui.1_Intron	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	305	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TTTGTAGGACCTTTCCAGAGA	0.408		NaN											0	0	0	0.001855	0	12	154				
GOLPH3	64083	broad.mit.edu	37	5	32143969	32143969	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:32143969C>A	uc003jhp.1	-	2	528	c.243G>T	c.(241-243)TGG>TGT	p.W81C		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	81					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			ovary(1)	1						TACAGTCATTCCAAAATGATG	0.318		NaN											1	0	1.06961e-07	0.00308	1.1414e-07	8	68				
WDR70	55100	broad.mit.edu	37	5	37727078	37727078	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:37727078G>A	uc003jkv.2	+	17	1866	c.1808G>A	c.(1807-1809)CGG>CAG	p.R603Q		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	603										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTAATCCTCGGGAAGCCATT	0.463		NaN											0	0	0	0.00308	0	8	91				
IQGAP2	10788	broad.mit.edu	37	5	75902129	75902129	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:75902129G>A	uc003kek.2	+	12	1579	c.1357_splice	c.e12+1	p.R453_splice	IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAATGACCGTAAGTATAAG	0.348		NaN											0	0	0	0.004672	0	3	35				
PPIP5K2	23262	broad.mit.edu	37	5	102518935	102518935	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:102518935G>A	uc003kod.3	+	25	3442	c.2923G>A	c.(2923-2925)GAA>AAA	p.E975K	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.E975K|PPIP5K2_uc003kof.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	975					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TCACTTCCAGGAAGAGAGCCC	0.443		NaN											0	0	0	0.001168	0	6	36				
SHROOM1	134549	broad.mit.edu	37	5	132160002	132160002	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:132160002C>G	uc003kxx.2	-	7	2156	c.1351G>C	c.(1351-1353)GAT>CAT	p.D451H	SHROOM1_uc003kxy.1_Missense_Mutation_p.D451H	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	451					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCAGTCATCTGCCCCTGCA	0.557		NaN											0	0	0	0.001168	0	6	38				
PCDHA1	56147	broad.mit.edu	37	5	140167320	140167320	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:140167320C>T	uc003lhb.2	+	1	1445	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	PCDHA1_uc003lha.2_Missense_Mutation_p.A482V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A482V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGACGCGGACGCGCAG	0.657		NaN											0	0	0	0.010729	0	9	173				
PCDHA9	9752	broad.mit.edu	37	5	140230132	140230132	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:140230132G>T	uc003lhu.2	+	1	2776	c.2052G>T	c.(2050-2052)GTG>GTT	p.V684V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.V684V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTCAGTGGGTGCCACGG	0.652		NaN											1	0	3.28513e-13	0.003954	3.60231e-13	26	117				
ARAP3	64411	broad.mit.edu	37	5	141050834	141050834	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:141050834G>C	uc003llm.2	-	13	2066	c.1988C>G	c.(1987-1989)TCA>TGA	p.S663*	ARAP3_uc011dbe.1_Nonsense_Mutation_p.S325*|ARAP3_uc003lln.2_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	663					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						GGAATGACCTGAGGGCAAGAG	0.572		NaN											0	0	0	0.004007	0	13	71				
LARS	51520	broad.mit.edu	37	5	145512562	145512562	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:145512562G>T	uc003lnx.1	-	23	2533	c.2295C>A	c.(2293-2295)CTC>CTA	p.L765L	LARS_uc003lnw.1_5'Flank|LARS_uc011dbq.1_Silent_p.L719L|LARS_uc011dbr.1_Silent_p.L711L|LARS_uc011dbs.1_Silent_p.L738L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	765					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGTACAGACGGAGAATACCTG	0.478		NaN											1	0	2.0095e-06	0.001984	2.12299e-06	7	56				
GABRB2	2561	broad.mit.edu	37	5	160757993	160757993	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:160757993A>G	uc003lys.1	-	9	1192	c.974T>C	c.(973-975)CTA>CCA	p.L325P	GABRB2_uc011deh.1_Missense_Mutation_p.L164P|GABRB2_uc003lyr.1_Missense_Mutation_p.L325P|GABRB2_uc003lyt.1_Missense_Mutation_p.L325P|GABRB2_uc010jiu.1_Missense_Mutation_p.L262P	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	325	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTAGTTGACTAGGGCATATTC	0.512		NaN											0	0	0	0.008871	0	21	93				
ODZ2	57451	broad.mit.edu	37	5	167645734	167645734	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr5:167645734A>G	uc010jjd.2	+	23	4811	c.4811A>G	c.(4810-4812)TAC>TGC	p.Y1604C	ODZ2_uc003lzr.3_Missense_Mutation_p.Y1374C|ODZ2_uc003lzt.3_Missense_Mutation_p.Y977C|ODZ2_uc010jje.2_Missense_Mutation_p.Y868C	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACAGGGGAGTACTTGTACAAT	0.473		NaN											0	0	0	0.010729	0	12	124				
FOXQ1	94234	broad.mit.edu	37	6	1313431	1313431	+	Silent	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:1313431C>A	uc003mtl.3	+	1	757	c.492C>A	c.(490-492)CGC>CGA	p.R164R		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	164	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CGGGCTGGCGCAACTCCGTGC	0.647		NaN											1	0	0.000442599	0.006214	0.000456969	9	92				
CDYL	9425	broad.mit.edu	37	6	4892403	4892403	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:4892403G>A	uc003mwi.2	+	4	774	c.643G>A	c.(643-645)GAG>AAG	p.E215K	CDYL_uc003mwj.2_Missense_Mutation_p.E161K|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.E29K|CDYL_uc011dhy.1_Missense_Mutation_p.E29K	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	215					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTTCAGAGCGAGAGCCCTGA	0.602		NaN											0	0	0	0.000602	0	5	70				
MUTED	63915	broad.mit.edu	37	6	8041460	8041460	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:8041460C>T	uc003mxy.2	-	3	275	c.237G>A	c.(235-237)TTG>TTA	p.L79L	TXNDC5_uc003mxw.2_5'UTR|MUTED_uc010joc.2_Silent_p.L15L|MUTED_uc010job.2_RNA	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN	muted	79						BLOC-1 complex	protein binding				0	Ovarian(93;0.0398)					TCATGTTCTTCAAATTTTCAA	0.353		NaN											0	0	0	0.006214	0	10	58				
SCAND3	114821	broad.mit.edu	37	6	28547168	28547168	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:28547168A>T	uc003nlo.2	-	2	1067	c.449T>A	c.(448-450)GTT>GAT	p.V150D		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	150					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTCCATAGAAACTTCCTGCCC	0.413		NaN											0	0	0	0.001855	0	12	93				
C6orf15	29113	broad.mit.edu	37	6	31079947	31079947	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:31079947G>A	uc003nsk.1	-	2	189	c.189C>T	c.(187-189)CCC>CCT	p.P63P	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	63											0						GGTCCAGAGCGGGCTGCGGAT	0.562		NaN											0	0	0	0.00499	0	18	141				
LY6G5B	58496	broad.mit.edu	37	6	31639913	31639913	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:31639913G>C	uc003nvt.1	+	3	460	c.460G>C	c.(460-462)GAG>CAG	p.E154Q	CSNK2B_uc003nvs.1_3'UTR	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex G5B precursor	154						extracellular region					0						TGCTGGGACGGAGCCTGATGG	0.587		NaN											0	0	0	0.008291	0	10	74				
RPS18	6222	broad.mit.edu	37	6	33243657	33243657	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:33243657T>C	uc003odp.1	+	3	231	c.186T>C	c.(184-186)GAT>GAC	p.D62D	RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	62					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						TCACTGAGGATGAGGTGAGGA	0.567		NaN											0	0	0	0.001168	0	6	136				
TCP11	6954	broad.mit.edu	37	6	35088699	35088699	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:35088699G>C	uc003okd.2	-	6	922	c.741C>G	c.(739-741)CTC>CTG	p.L247L	TCP11_uc003ojz.1_Silent_p.L172L|TCP11_uc003oka.2_Silent_p.L172L|TCP11_uc003okb.2_Silent_p.L171L|TCP11_uc003okc.2_Silent_p.L171L|TCP11_uc011dsu.1_Silent_p.L229L|TCP11_uc011dsv.1_Silent_p.L196L|TCP11_uc011dsw.1_Silent_p.L201L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	234					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						GCTGCTTATTGAGGAGTTCCT	0.423		NaN											0	0	0	0.01441	0	69	392				
PPARD	5467	broad.mit.edu	37	6	35387983	35387983	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:35387983C>G	uc003okm.2	+	4	519	c.210C>G	c.(208-210)CTC>CTG	p.L70L	PPARD_uc003okl.2_Silent_p.L70L|PPARD_uc003okn.2_Silent_p.L70L|PPARD_uc011dtb.1_Silent_p.L31L|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	70					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCGGCAGCCTCAACATGGAGT	0.652		NaN											0	0	0	0.013537	0	12	71				
TFAP2D	83741	broad.mit.edu	37	6	50696937	50696937	+	Silent	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:50696937G>C	uc003paf.2	+	5	1307	c.795G>C	c.(793-795)CTG>CTC	p.L265L	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	265							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					GCCGCTGCCTGAGAGAGAAAT	0.408		NaN											0	0	0	0.013537	0	13	124				
GRIK2	2898	broad.mit.edu	37	6	102337572	102337572	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:102337572G>A	uc003pqp.3	+	11	1831	c.1582G>A	c.(1582-1584)GAC>AAC	p.D528N	GRIK2_uc003pqn.2_Missense_Mutation_p.D528N|GRIK2_uc003pqo.3_Missense_Mutation_p.D528N|GRIK2_uc010kcw.2_Missense_Mutation_p.D528N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	528	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAGGTCATCGACTTTTCCAA	0.408		NaN											0	0	0	0.00245	0	14	124				
FAM184A	79632	broad.mit.edu	37	6	119300685	119300685	+	Splice_Site	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:119300685T>C	uc003pyj.2	-	11	2650	c.2302_splice	c.e11-1	p.A768_splice	FAM184A_uc003pyk.3_Splice_Site_p.A648_splice|FAM184A_uc003pyl.3_Splice_Site_p.A648_splice	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1											ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TTCAAGAGCCTAGAACAAGAC	0.328		NaN											0	0	0	0.009096	0	4	31				
TAAR8	83551	broad.mit.edu	37	6	132874511	132874511	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:132874511C>A	uc011ecj.1	+	1	680	c.680C>A	c.(679-681)GCT>GAT	p.A227D		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	227	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AAACAACAAGCTATAAAAATT	0.358		NaN											1	0	3.86212e-05	0.008291	4.01358e-05	11	77				
TMEM181	57583	broad.mit.edu	37	6	159046150	159046150	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr6:159046150C>T	uc003qrm.3	+	12	1391	c.1380C>T	c.(1378-1380)TTC>TTT	p.F460F	TMEM181_uc010kjr.1_Silent_p.F291F	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	460	Helical; (Potential).				pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGAAGGTCTTCTTCATGGTGG	0.547		NaN											0	0	0	0.00308	0	8	153				
C7orf50	84310	broad.mit.edu	37	7	1037332	1037332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:1037332C>T	uc003sju.2	-	5	584	c.514G>A	c.(514-516)GAG>AAG	p.E172K	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.E172K|C7orf50_uc011jvu.1_Missense_Mutation_p.E172K	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	172							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GAGCCCTCCTCATCCAGCTCC	0.711		NaN											0	0	0	0.004482	0	8	80				
FTSJ2	29960	broad.mit.edu	37	7	2274900	2274900	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:2274900G>C	uc003slm.2	-	3	627	c.598C>G	c.(598-600)CAA>GAA	p.Q200E	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sll.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.Q46E	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	200					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CGACGGCTTTGACTTCCAGCC	0.507		NaN											0	0	0	0.00245	0	15	105				
DNAH11	8701	broad.mit.edu	37	7	21920404	21920404	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:21920404A>G	uc003svc.2	+	76	12332	c.12301A>G	c.(12301-12303)AGA>GGA	p.R4101G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4101	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGTTGCTGGGAGACTGAGGTT	0.478		NaN							Kartagener_syndrome				0	0	0	0.008291	0	11	120				
EGFR	1956	broad.mit.edu	37	7	55259449	55259449	+	Missense_Mutation	SNP	G	G	A	rs146121458		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:55259449G>A	uc003tqk.2	+	21	2753	c.2507G>A	c.(2506-2508)CGC>CAC	p.R836H	EGFR_uc010kzg.1_Missense_Mutation_p.R791H|EGFR_uc011kco.1_Missense_Mutation_p.R783H|uc003tqo.2_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	836	Cytoplasmic (Potential).|Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R836C(2)|p.R836R(1)|p.R836S(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTGGTGCACCGCGACCTGGCA	0.537		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	0.008291	0	10	117				
TPST1	8460	broad.mit.edu	37	7	65705842	65705842	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:65705842G>A	uc003tuw.2	+	2	782	c.430G>A	c.(430-432)GAA>AAA	p.E144K	TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.E144K|TPST1_uc010laa.2_Missense_Mutation_p.E144K	NM_003596	NP_003587	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	144	Lumenal (Potential).				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity				0						CTTCTTACTAGAAATTATCGT	0.438		NaN											0	0	0	0.009096	0	4	86				
PCLO	27445	broad.mit.edu	37	7	82784366	82784366	+	Missense_Mutation	SNP	A	A	G	rs112239934		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:82784366A>G	uc003uhx.2	-	2	1880	c.1591T>C	c.(1591-1593)TCT>CCT	p.S531P	PCLO_uc003uhv.2_Missense_Mutation_p.S531P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	477	Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGCTGTTGAGATGGGGGTTTT	0.557		NaN											0	0	0	0.008291	0	8	357				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:82784471A>G	uc003uhx.2	-	2	1775	c.1486T>C	c.(1486-1488)TCA>CCA	p.S496P	PCLO_uc003uhv.2_Missense_Mutation_p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGCTTTGCTGAGCCAGGCTGT	0.607		NaN											0	0	0	0.001855	0	11	238				
AKAP9	10142	broad.mit.edu	37	7	91691704	91691704	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:91691704G>C	uc003ulg.2	+	24	6106	c.5881G>C	c.(5881-5883)GAA>CAA	p.E1961Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E1961Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1584Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1973	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGGTTGCAAGAATTGGAGGC	0.403		NaN	T	BRAF	papillary thyroid								0	0	0	0.004482	0	9	120				
GIGYF1	64599	broad.mit.edu	37	7	100281007	100281007	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr7:100281007G>C	uc003uwg.1	-	18	3122	c.2113C>G	c.(2113-2115)CGA>GGA	p.R705G		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	705										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCCTCTCGACGCTTGCGT	0.647		NaN											0	0	0	0.004656	0	27	245				
STMN4	81551	broad.mit.edu	37	8	27099982	27099982	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:27099982G>A	uc003xfk.2	-	3	155	c.41C>T	c.(40-42)CCG>CTG	p.P14L	STMN4_uc003xfj.2_Missense_Mutation_p.P14L|STMN4_uc011lai.1_Missense_Mutation_p.P14L|STMN4_uc011laj.1_Missense_Mutation_p.P5L|STMN4_uc011lak.1_Missense_Mutation_p.P14L|STMN4_uc010luo.2_Missense_Mutation_p.P14L			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	14					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GGACACCAGCGGGAGCTCCTT	0.567		NaN											0	0	0	0.004482	0	9	47				
MYST3	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:41790659T>G	uc010lxb.2	-	18	5623	c.5079A>C	c.(5077-5079)CCA>CCC	p.P1693P	MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ggggagggggtgggggtggag	0.164		NaN											0	0	0	0.001855	0	5	17				
AP3M2	10947	broad.mit.edu	37	8	42023048	42023048	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:42023048G>T	uc003xop.2	+	7	1064	c.773G>T	c.(772-774)CGC>CTC	p.R258L	AP3M2_uc003xoo.2_Missense_Mutation_p.R258L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R143L|AP3M2_uc003xor.1_Missense_Mutation_p.R258L	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	258	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAAACTTCCGCCTGCTGTCT	0.448		NaN											1	0	2.61681e-11	0.00245	2.84009e-11	14	216				
PLAG1	5324	broad.mit.edu	37	8	57079984	57079984	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:57079984C>T	uc003xsq.3	-	3	772	c.321G>A	c.(319-321)CTG>CTA	p.L107L	PLAG1_uc003xsr.3_Silent_p.L107L|PLAG1_uc010lyi.2_Silent_p.L107L|PLAG1_uc010lyj.2_Silent_p.L25L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	107	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGTGATTCTTCAGATGATCTT	0.393		NaN	T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								0	0	0	0.009096	0	4	28				
CPA6	57094	broad.mit.edu	37	8	68334769	68334769	+	Silent	SNP	G	G	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:68334769G>T	uc003xxq.3	-	11	1540	c.1284C>A	c.(1282-1284)ATC>ATA	p.I428I	CPA6_uc003xxr.3_Silent_p.I184I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	428					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGTGCATTGTGATATTTTTCA	0.453		NaN											1	0	4.3838e-07	0.001855	4.66237e-07	12	173				
VPS13B	157680	broad.mit.edu	37	8	100796630	100796630	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:100796630G>A	uc003yiv.2	+	43	8053	c.7942G>A	c.(7942-7944)GAT>AAT	p.D2648N	VPS13B_uc003yiw.2_Missense_Mutation_p.D2623N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2648					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGCCAGGTGGATACTGATGA	0.468		NaN											0	0	0	0.012319	0	22	179				
YWHAZ	7534	broad.mit.edu	37	8	101932934	101932934	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:101932934C>G	uc011lhe.1	-	6	902	c.725G>C	c.(724-726)GGA>GCA	p.G242A	YWHAZ_uc003yjv.2_Missense_Mutation_p.G242A|YWHAZ_uc011lhf.1_Missense_Mutation_p.G242A|YWHAZ_uc003yjw.2_Missense_Mutation_p.G242A|YWHAZ_uc010mbq.2_Missense_Mutation_p.G165A|YWHAZ_uc011lhg.1_Missense_Mutation_p.G122A|YWHAZ_uc010mbr.2_Missense_Mutation_p.G242A|YWHAZ_uc003yjx.2_Missense_Mutation_p.G242A	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	242					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	ATTTTCCCCTCCTTCTCCTGC	0.453		NaN											0	0	0	0.001984	0	6	88				
CSMD3	114788	broad.mit.edu	37	8	113299395	113299395	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:113299395T>A	uc003ynu.2	-	58	9388	c.9229A>T	c.(9229-9231)ACT>TCT	p.T3077S	CSMD3_uc003yns.2_Missense_Mutation_p.T2279S|CSMD3_uc003ynt.2_Missense_Mutation_p.T3037S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2908S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3077	Extracellular (Potential).|Sushi 22.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAACGTACAGTACTTTTAGTT	0.473		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			0	0	0	0.004482	0	9	130				
DENND3	22898	broad.mit.edu	37	8	142161801	142161801	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:142161801C>T	uc003yvy.2	+	7	977	c.699C>T	c.(697-699)TTC>TTT	p.F233F	DENND3_uc010mep.2_Silent_p.F246F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	233	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAGTGCTTCATGGCCTACC	0.602		NaN											0	0	0	0.013726	0	36	168				
KIFC2	90990	broad.mit.edu	37	8	145693121	145693121	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr8:145693121G>C	uc003zcz.2	+	6	705	c.640G>C	c.(640-642)GAA>CAA	p.E214Q	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	214	Potential.|Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCAGCAGCTGGAACAGCAGGA	0.647		NaN									OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00245	0	15	97				
PLIN2	123	broad.mit.edu	37	9	19119735	19119735	+	Silent	SNP	A	A	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19119735A>T	uc003zno.2	-	6	869	c.690T>A	c.(688-690)CGT>CGA	p.R230R	PLIN2_uc011lna.1_Silent_p.R202R|PLIN2_uc011lnb.1_Missense_Mutation_p.V187E	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	230					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						GCTGGTAGGCACGGGAGTGAA	0.433		NaN											0	0	0	0.008291	0	10	140				
PLIN2	123	broad.mit.edu	37	9	19119764	19119764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19119764C>A	uc003zno.2	-	6	840	c.661G>T	c.(661-663)GGA>TGA	p.G221*	PLIN2_uc011lna.1_Nonsense_Mutation_p.G193*|PLIN2_uc011lnb.1_Missense_Mutation_p.W177C	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	221					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						GACAGGGATCCCAGTCTAACA	0.413		NaN											1	0	7.48243e-07	0.006214	7.93137e-07	8	140				
PLIN2	123	broad.mit.edu	37	9	19121087	19121087	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:19121087G>A	uc003zno.2	-	5	565	c.386C>T	c.(385-387)TCT>TTT	p.S129F	PLIN2_uc011lna.1_Missense_Mutation_p.S101F|PLIN2_uc011lnb.1_Missense_Mutation_p.S129F	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	129					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2						GCTGGCCACAGAATCCTTGGC	0.532		NaN											0	0	0	0.001984	0	7	72				
KIAA1161	57462	broad.mit.edu	37	9	34372105	34372105	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:34372105C>T	uc003zue.3	-	3	1004	c.837G>A	c.(835-837)CTG>CTA	p.L279L		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	279	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTCGGTAGCTCAGCTCTGGCG	0.667		NaN											0	0	0	0.000602	0	4	57				
KIAA1161	57462	broad.mit.edu	37	9	34372876	34372876	+	Silent	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:34372876T>C	uc003zue.3	-	2	233	c.66A>G	c.(64-66)GCA>GCG	p.A22A		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	22	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TCTGACGCTATGCGTAGCAGC	0.637		NaN											0	0	0	0.008291	0	11	224				
TRPM3	80036	broad.mit.edu	37	9	73167853	73167853	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:73167853T>C	uc004aid.2	-	23	3689	c.3445A>G	c.(3445-3447)ATC>GTC	p.I1149V	TRPM3_uc004ahu.2_Missense_Mutation_p.I991V|TRPM3_uc004ahv.2_Missense_Mutation_p.I951V|TRPM3_uc004ahw.2_Missense_Mutation_p.I1021V|TRPM3_uc004ahx.2_Missense_Mutation_p.I1008V|TRPM3_uc004ahy.2_Missense_Mutation_p.I1011V|TRPM3_uc004ahz.2_Missense_Mutation_p.I998V|TRPM3_uc004aia.2_Missense_Mutation_p.I996V|TRPM3_uc004aib.2_Missense_Mutation_p.I986V|TRPM3_uc004aic.2_Missense_Mutation_p.I1149V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1174	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTGAAGATGATCAGTGGTGGG	0.483		NaN											0	0	0	0.010504	0	22	202				
FRMD3	257019	broad.mit.edu	37	9	85913693	85913693	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:85913693T>A	uc004ams.1	-	12	1242	c.1040A>T	c.(1039-1041)AAG>ATG	p.K347M	FRMD3_uc004amr.1_Missense_Mutation_p.K333M	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	347						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						CCTCTGGATCTTGGAACTGGC	0.498		NaN											0	0	0	0.001984	0	7	61				
DAPK1	1612	broad.mit.edu	37	9	90262280	90262280	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:90262280C>G	uc004apc.2	+	14	1429	c.1291C>G	c.(1291-1293)CTC>GTC	p.L431V	DAPK1_uc004ape.2_Missense_Mutation_p.L431V|DAPK1_uc004apd.2_Missense_Mutation_p.L431V|DAPK1_uc011ltg.1_Missense_Mutation_p.L431V|DAPK1_uc011lth.1_Missense_Mutation_p.L168V|DAPK1_uc004apf.1_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	431	ANK 2.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CTTGAAATTTCTCAGTGAGAA	0.502		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	0.001855	0	13	69				
ALAD	210	broad.mit.edu	37	9	116152053	116152053	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:116152053C>T	uc011lxf.1	-	8	828	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	ALAD_uc011lxe.1_Missense_Mutation_p.R192Q|ALAD_uc004bhl.3_Missense_Mutation_p.R238Q	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	209		Substrate 1.			heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCCTGCTCACCGGAAAGGGCC	0.562		NaN											0	0	0	0.001168	0	6	41				
ADAMTS13	11093	broad.mit.edu	37	9	136324257	136324257	+	Silent	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:136324257G>A	uc004cdv.3	+	29	4683	c.4239G>A	c.(4237-4239)CCG>CCA	p.P1413P	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Silent_p.P1357P|ADAMTS13_uc004cdu.1_Silent_p.P1326P|ADAMTS13_uc004cdw.3_Silent_p.P1357P|ADAMTS13_uc004cdx.3_Silent_p.P1326P|ADAMTS13_uc004cdz.3_Silent_p.P1083P|ADAMTS13_uc004ceb.3_Silent_p.P209P|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1413	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATGGGTACCGGAGATGCAGG	0.597		NaN											0	0	0	0.004672	0	3	27				
RXRA	6256	broad.mit.edu	37	9	137328331	137328331	+	Silent	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:137328331C>G	uc004cfb.2	+	10	1422	c.1260C>G	c.(1258-1260)CTC>CTG	p.L420L	RXRA_uc004cfc.1_Silent_p.L323L	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	420	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGCTCTTGCTCCGCCTGCCGG	0.612		NaN											0	0	0	0.004482	0	9	144				
ANAPC2	29882	broad.mit.edu	37	9	140074639	140074639	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:140074639C>G	uc004clr.1	-	10	1957	c.1884G>C	c.(1882-1884)CAG>CAC	p.Q628H	ANAPC2_uc004clq.1_Missense_Mutation_p.Q484H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	628					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTACCTTGAGCTGCTCATACT	0.632		NaN											0	0	0	0.000602	0	5	38				
ANAPC2	29882	broad.mit.edu	37	9	140076196	140076196	+	Missense_Mutation	SNP	C	C	T	rs142080330		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr9:140076196C>T	uc004clr.1	-	7	1478	c.1405G>A	c.(1405-1407)GAC>AAC	p.D469N	ANAPC2_uc004clq.1_Missense_Mutation_p.D325N	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	469					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCTCACTGTCCTGGCCTGTC	0.652		NaN											0	0	0	0.000602	0	5	45				
MXRA5	25878	broad.mit.edu	37	X	3238516	3238516	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:3238516G>C	uc004crg.3	-	5	5367	c.5210C>G	c.(5209-5211)ACT>AGT	p.T1737S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1737						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAAGAAAGAGTCTTGTTGGT	0.463		NaN											0	0	0	0.014323	0	24	28				
USP11	8237	broad.mit.edu	37	X	47092454	47092454	+	Silent	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:47092454C>T	uc004dhp.2	+	1	141	c.141C>T	c.(139-141)GTC>GTT	p.V47V		NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	47					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						tggcgacggtcgcagcaaatc	0.383		NaN											0	0	0	0.00308	0	7	16				
APEX2	27301	broad.mit.edu	37	X	55033806	55033806	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:55033806C>T	uc004dtz.2	+	6	1571	c.1495C>T	c.(1495-1497)CGG>TGG	p.R499W	APEX2_uc011mom.1_Missense_Mutation_p.R328W	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	499					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						TGCCAGGCCCCGGGGTCCTCC	0.642		NaN						Other_BER_factors					0	0	0	0.009096	0	4	13				
KLHL4	56062	broad.mit.edu	37	X	86869502	86869502	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:86869502A>G	uc004efb.2	+	3	838	c.656A>G	c.(655-657)AAA>AGA	p.K219R	KLHL4_uc004efa.2_Missense_Mutation_p.K219R	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	219	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTTGAAGCCAAACAAGAAGAG	0.378		NaN											0	0	0	0.000602	0	5	40				
ODZ1	10178	broad.mit.edu	37	X	123554332	123554332	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:123554332G>A	uc004euj.2	-	24	4854	c.4790C>T	c.(4789-4791)CCG>CTG	p.P1597L	ODZ1_uc011muj.1_Missense_Mutation_p.P1603L|ODZ1_uc010nqy.2_Missense_Mutation_p.P1604L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1597	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AAGCCATAGCGGCATTCCGCC	0.493		NaN											0	0	0	0.004672	0	3	42				
DCAF12L1	139170	broad.mit.edu	37	X	125685907	125685907	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:125685907C>T	uc004eul.2	-	1	936	c.685G>A	c.(685-687)GAC>AAC	p.D229N		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	229	WD 2.									skin(3)|ovary(1)	4						GCAACAGTGTCATCGAACTTG	0.637		NaN											0	0	0	0.006122	0	19	42				
FAM127B	26071	broad.mit.edu	37	X	134186001	134186001	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:134186001C>A	uc004eyf.2	-	1	221	c.138G>T	c.(136-138)CAG>CAT	p.Q46H	FAM127B_uc004eyg.3_Missense_Mutation_p.Q46H	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	46											0	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTCGTCTGCACGATGA	0.652		NaN											1	0	2.81731e-10	0.010818	3.0473e-10	32	59				
OPN1LW	5956	broad.mit.edu	37	X	153420214	153420214	+	Silent	SNP	G	G	A	rs139583770		TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:153420214G>A	uc004fjz.3	+	4	777	c.744G>A	c.(742-744)GCG>GCA	p.A248A		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	248	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCATCCGAGCGGTAAGCCCCC	0.547		NaN											0	0	0	0.00245	0	12	62				
SCNN1D	6339	broad.mit.edu	37	1	1226700	1226700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:1226700C>T	uc001adu.1	+	17	2251	c.1627C>T	c.(1627-1629)CTC>TTC	p.L543F	SCNN1D_uc001adt.1_Missense_Mutation_p.L707F|SCNN1D_uc001adw.2_Missense_Mutation_p.L609F|SCNN1D_uc001adx.2_Missense_Mutation_p.L332F|SCNN1D_uc001adv.2_Missense_Mutation_p.L543F	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCCTCTCCCTCCTGGAGCT	0.721		NaN											0	0	0	0.014758	0	5	21				
ARID1A	8289	broad.mit.edu	37	1	27106539	27106539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:27106539G>A	uc001bmv.1	+	20	6523	c.6150G>A	c.(6148-6150)TGG>TGA	p.W2050*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1833*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W896*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W378*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W292*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2050					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTGGTGGTGGGACTGCTTGG	0.552		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.139131	0	54	49		Valid		
SNIP1	79753	broad.mit.edu	37	1	38018319	38018319	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:38018319G>A	uc001cbi.2	-	2	327	c.254C>T	c.(253-255)TCA>TTA	p.S85L	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	85	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TCTTCTCCCTGAGGCCTTGTT	0.458		NaN											0	0	0	0.139131	0	82	162				
FPGT	8790	broad.mit.edu	37	1	74670509	74670509	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:74670509G>A	uc001dgb.1	+	4	815	c.778G>A	c.(778-780)GAT>AAT	p.D260N	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	260					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGACATTGCCGATCTTAAATT	0.358		NaN											0	0	0	0.116897	0	29	60				
F5	2153	broad.mit.edu	37	1	169487767	169487767	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:169487767C>G	uc001ggg.1	-	23	6373	c.6228G>C	c.(6226-6228)AAG>AAC	p.K2076N		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2076	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTTTTCTATCTTTCCATTTT	0.448		NaN											0	0	0	0.021553	0	5	40				
IPO9	55705	broad.mit.edu	37	1	201828120	201828120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:201828120C>T	uc001gwz.2	+	13	1516	c.1466C>T	c.(1465-1467)TCA>TTA	p.S489L		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	489					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CTCAACCTCTCAGGTATGTTT	0.318		NaN											0	0	0	0.105934	0	14	39				
TP53BP2	7159	broad.mit.edu	37	1	223984139	223984139	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:223984139C>T	uc010pvb.1	-	13	2394	c.2102G>A	c.(2101-2103)CGG>CAG	p.R701Q	TP53BP2_uc001hod.2_Missense_Mutation_p.R572Q|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.R340Q	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	695					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCTGAGTGGCCGAGGAATTCT	0.448		NaN											0	0	0	0.139131	0	91	102				
CYP26C1	340665	broad.mit.edu	37	10	94821038	94821038	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:94821038G>A	uc010qns.1	+	1	18	c.18G>A	c.(16-18)CTG>CTA	p.L6L	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	6					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				CTTGGGGGCTGAGCTGCCTGT	0.711		NaN											0	0	0	0.021553	0	6	4				
C10orf12	26148	broad.mit.edu	37	10	98743230	98743230	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:98743230G>A	uc001kmv.2	+	1	2190	c.2083G>A	c.(2083-2085)GAG>AAG	p.E695K		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	695										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAGATGATGAGAGTGATGC	0.517		NaN											0	0	0	0.105934	0	14	55				
ABCC2	1244	broad.mit.edu	37	10	101571351	101571351	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:101571351A>T	uc001kqf.2	+	15	2098	c.1959A>T	c.(1957-1959)ACA>ACT	p.T653T		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	653	Cytoplasmic (By similarity).|ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGGAAGCCACAGTCCGAGAGT	0.453		NaN											0	0	0	0.086207	0	36	37				
ANO5	203859	broad.mit.edu	37	11	22249087	22249087	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:22249087C>T	uc001mqi.2	+	7	920	c.603C>T	c.(601-603)ATC>ATT	p.I201I	ANO5_uc001mqj.2_Silent_p.I200I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	201	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TCTTCCTCATCGAAGATCAGG	0.453		NaN											0	0	0	0.076483	0	25	61				
FIBIN	387758	broad.mit.edu	37	11	27016101	27016101	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:27016101A>C	uc001mrd.2	+	1	474	c.28A>C	c.(28-30)AGT>CGT	p.S10R		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	10						extracellular region|Golgi apparatus					0						CTTCTGCATGAGTTTCTTCTG	0.527		NaN											0	0	0	0.09836	0	36	25				
OR5M8	219484	broad.mit.edu	37	11	56258428	56258428	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:56258428C>A	uc001nix.1	-	1	419	c.419G>T	c.(418-420)TGC>TTC	p.C140F		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					GAGGAAGGAGCACACACTCTT	0.522		NaN											1	0	1.17739e-12	0.108266	1.29397e-12	29	44				
CTSW	1521	broad.mit.edu	37	11	65649734	65649734	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:65649734G>A	uc001ogc.1	+	4	417	c.375G>A	c.(373-375)GAG>GAA	p.E125E	CTSW_uc001ogb.1_Silent_p.E125E	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	125					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		AAGAGCCAGAGGAGTCAGTAC	0.582		NaN											0	0	0	0.069288	0	21	120				
FAT3	120114	broad.mit.edu	37	11	92623737	92623737	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:92623737G>A	uc001pdj.3	+	25	13149	c.13132G>A	c.(13132-13134)GAT>AAT	p.D4378N	FAT3_uc001pdi.3_Missense_Mutation_p.D850N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4410	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGAACCAGGATGGAGGGTC	0.547		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.069234	0	11	24				
BUD13	84811	broad.mit.edu	37	11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116619253G>A	uc001ppn.2	-	10	1839	c.1805C>T	c.(1804-1806)GCC>GTC	p.A602V	BUD13_uc001ppo.2_Missense_Mutation_p.A468V	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	602										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478		NaN											0	0	0	0.0918	0	24	34				
APOC3	345	broad.mit.edu	37	11	116701559	116701559	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116701559C>T	uc001ppt.1	+	3	172	c.126C>T	c.(124-126)ACC>ACT	p.T42T		NM_000040	NP_000031	P02656	APOC3_HUMAN	apolipoprotein C-III precursor	42					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647		NaN											0	0	0	0.021553	0	6	17				
KIF21A	55605	broad.mit.edu	37	12	39760203	39760203	+	Silent	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:39760203A>G	uc001rly.2	-	6	998	c.852T>C	c.(850-852)ACT>ACC	p.T284T	KIF21A_uc001rlx.2_Silent_p.T284T|KIF21A_uc001rlz.2_Silent_p.T284T|KIF21A_uc010skl.1_Silent_p.T284T|KIF21A_uc001rma.1_Silent_p.T292T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	284	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGTAGCTCCAGTACGCTTCA	0.393		NaN											0	0	0	0.099896	0	25	53				
GDF11	10220	broad.mit.edu	37	12	56143622	56143622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:56143622G>A	uc001shq.2	+	3	1217	c.1180G>A	c.(1180-1182)GGC>AGC	p.G394S	GDF11_uc010spv.1_Missense_Mutation_p.G394S	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	394					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						GATTATCTACGGCAAGATCCC	0.572		NaN											0	0	0	0.183431	0	34	133				
PTPRB	5787	broad.mit.edu	37	12	70953310	70953310	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:70953310G>T	uc001swb.3	-	16	3903	c.3873C>A	c.(3871-3873)AAC>AAA	p.N1291K	PTPRB_uc010sto.1_Missense_Mutation_p.N1201K|PTPRB_uc010stp.1_Missense_Mutation_p.N1201K|PTPRB_uc001swc.3_Missense_Mutation_p.N1509K|PTPRB_uc001swa.3_Missense_Mutation_p.N1421K|PTPRB_uc001swd.3_Missense_Mutation_p.N1508K|PTPRB_uc009zrr.1_Missense_Mutation_p.N1388K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1291	Fibronectin type-III 15.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCAAAGTCGTTGTAGTCTG	0.493		NaN											1	0	5.00936e-31	0.139131	5.61655e-31	66	196				
C12orf51	283450	broad.mit.edu	37	12	112670808	112670808	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:112670808C>G	uc009zwc.2	-	31	4749	c.4731G>C	c.(4729-4731)AAG>AAC	p.K1577N		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						ATGAGGTTACCTTGGTCATGT	0.403		NaN											0	0	0	0.02938	0	7	6				
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Silent	SNP	G	G	A	rs149109491	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:70515701G>A	uc001xly.2	-	7	2944	c.2190C>T	c.(2188-2190)TAC>TAT	p.Y730Y	SLC8A3_uc001xlu.2_Silent_p.Y87Y|SLC8A3_uc001xlv.2_Silent_p.Y101Y|SLC8A3_uc001xlw.2_Silent_p.Y727Y|SLC8A3_uc001xlx.2_Silent_p.Y728Y|SLC8A3_uc001xlz.2_Silent_p.Y724Y|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.Y87Y	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	730	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572		NaN											0	0	0	0.108266	0	28	43				
DICER1	23405	broad.mit.edu	37	14	95579563	95579563	+	Splice_Site	SNP	T	T	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:95579563T>A	uc001ydw.2	-	13	2090	c.1908_splice	c.e13-1	p.R636_splice	DICER1_uc001ydv.2_Splice_Site_p.R626_splice|DICER1_uc001ydx.2_Splice_Site_p.R636_splice	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCACAGTATCTGTGAAGAAAA	0.378		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.069288	0	23	55				
SEMA6D	80031	broad.mit.edu	37	15	48052549	48052549	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:48052549C>T	uc010bek.2	+	3	518	c.158C>T	c.(157-159)TCG>TTG	p.S53L	SEMA6D_uc001zvw.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S53L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S53L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	53	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCAATGAATCGCAGCACAGG	0.408		NaN											0	0	0	0.047766	0	9	50				
CA12	771	broad.mit.edu	37	15	63637770	63637770	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:63637770C>T	uc002amc.2	-	4	491	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CA12_uc002amd.2_Missense_Mutation_p.R112H|CA12_uc002ame.2_Missense_Mutation_p.R52H	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	112	Extracellular (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)	GGCACTGTAGCGAGACTGGAG	0.657		NaN											0	0	0	0.115264	0	3	18				
BTBD12	84464	broad.mit.edu	37	16	3633236	3633236	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:3633236T>C	uc002cvp.2	-	14	5642	c.5015A>G	c.(5014-5016)CAT>CGT	p.H1672R		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1672	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GATGCTTTCATGATGCTTCCT	0.627		NaN						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				0	0	0	0.139131	0	54	57				
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:55719143G>A	uc002eif.2	+	5	844	c.733G>A	c.(733-735)GTC>ATC	p.V245I	SLC6A2_uc010ccd.2_Missense_Mutation_p.V245I|SLC6A2_uc002eig.2_Missense_Mutation_p.V245I|SLC6A2_uc002eih.2_Missense_Mutation_p.V245I|SLC6A2_uc002eii.2_Missense_Mutation_p.V140I|SLC6A2_uc002eij.2_Missense_Mutation_p.V4I	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	245	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527		NaN											0	0	0	0.055883	0	19	64				
CHD3	1107	broad.mit.edu	37	17	7797579	7797579	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:7797579G>T	uc002gje.2	+	7	1221	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	CHD3_uc002gjd.2_Missense_Mutation_p.K416N|CHD3_uc002gjf.2_Missense_Mutation_p.K357N|CHD3_uc002gjg.1_Missense_Mutation_p.K185N	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	357	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGAAGAAGAAGAAGGGTAAGG	0.488		NaN											1	0	1.58986e-06	0.069234	1.66486e-06	11	45				
PYCR1	5831	broad.mit.edu	37	17	79892987	79892987	+	Missense_Mutation	SNP	G	G	A	rs121918376		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:79892987G>A	uc002kcr.1	-	4	633	c.355C>T	c.(355-357)CGC>TGC	p.R119C	PYCR1_uc002kcq.1_Missense_Mutation_p.R119C|PYCR1_uc002kcp.2_Missense_Mutation_p.R119C|PYCR1_uc002kcs.1_Missense_Mutation_p.R119C|PYCR1_uc010wvd.1_Missense_Mutation_p.R146C|PYCR1_uc002kct.1_Missense_Mutation_p.R119C|PYCR1_uc002kcu.1_Missense_Mutation_p.R119C|PYCR1_uc010wve.1_Missense_Mutation_p.R71C	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	119			R -> H (in ARCL2B).|R -> G (in ARCL2B).		cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GTCATGCAGCGGATGACCCTG	0.647		NaN											0	0	0	0.043863	0	18	24				
MUC16	94025	broad.mit.edu	37	19	9063763	9063763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:9063763G>A	uc002mkp.2	-	3	23887	c.23683C>T	c.(23683-23685)CCT>TCT	p.P7895S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7897	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCATGACAGGGGATGTAGAG	0.498		NaN											0	0	0	0.092188	0	40	70				
DOCK6	57572	broad.mit.edu	37	19	11325227	11325227	+	Splice_Site	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:11325227A>G	uc002mqs.3	-	33	4244	c.4203_splice	c.e33+1	p.Q1401_splice	DOCK6_uc010xlq.1_Splice_Site_p.Q740_splice	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ATCAAGCCCTACCTGCACGAT	0.557		NaN											0	0	0	0.076483	0	24	27				
ILVBL	10994	broad.mit.edu	37	19	15226826	15226826	+	Missense_Mutation	SNP	G	G	A	rs141415835	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:15226826G>A	uc002nam.2	-	13	1649	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W	ILVBL_uc010xof.1_Missense_Mutation_p.R151W|ILVBL_uc010dzw.2_Missense_Mutation_p.R403W	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	510	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						GCATCTGGCCGGCACAGCTTG	0.597		NaN											0	0	0	0.150653	0	4	44				
CADM4	199731	broad.mit.edu	37	19	44127538	44127538	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:44127538C>T	uc002oxc.1	-	9	1160	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	371	Cytoplasmic (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				AGGAAGGCTTCTCTTGCTTCT	0.592		NaN											0	0	0	0.131918	0	42	128				
SYMPK	8189	broad.mit.edu	37	19	46341740	46341740	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:46341740C>T	uc002pdn.2	-	10	1466	c.1221G>A	c.(1219-1221)ACG>ACA	p.T407T	SYMPK_uc002pdo.1_Silent_p.T407T|SYMPK_uc002pdp.1_Silent_p.T407T|SYMPK_uc002pdq.1_Silent_p.T407T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	407					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATTATCAGGCGTCAGCAGAG	0.602		NaN											0	0	0	0.047766	0	9	22				
PRKD2	25865	broad.mit.edu	37	19	47197163	47197163	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:47197163G>A	uc002pfh.2	-	11	1887	c.1545C>T	c.(1543-1545)GAC>GAT	p.D515D	PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_Silent_p.D35D|PRKD2_uc002pff.2_Silent_p.D35D|PRKD2_uc002pfg.2_Silent_p.D358D|PRKD2_uc002pfi.2_Silent_p.D515D|PRKD2_uc002pfj.2_Silent_p.D515D|PRKD2_uc010xye.1_Silent_p.D515D|PRKD2_uc002pfk.2_Silent_p.D358D	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	515					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGCTGGGTGCGTCCTGAAGGA	0.687		NaN											0	0	0	0.049695	0	19	57				
KLK12	43849	broad.mit.edu	37	19	51535178	51535178	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:51535178G>T	uc002pvg.1	-	3	531	c.411C>A	c.(409-411)GGC>GGA	p.G137G	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Silent_p.G137G|KLK12_uc002pvi.1_Silent_p.G137G|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	137	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCACTCGGTGCCAGCGGTTG	0.677		NaN											1	0	5.60225e-13	0.144211	6.2185e-13	32	87				
TPO	7173	broad.mit.edu	37	2	1544451	1544451	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:1544451G>A	uc002qww.2	+	16	2795	c.2704G>A	c.(2704-2706)GTA>ATA	p.V902I	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.V845I|TPO_uc002qwr.2_Missense_Mutation_p.V902I|TPO_uc002qwx.2_Missense_Mutation_p.V845I|TPO_uc010yio.1_Missense_Mutation_p.V729I|TPO_uc010yip.1_Missense_Mutation_p.V858I|TPO_uc002qwy.1_Missense_Mutation_p.V198I|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	902	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGGCCGTAGGGACCTC	0.637		NaN											0	0	0	0.108266	0	27	73				
SNRPG	6637	broad.mit.edu	37	2	70515288	70515288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515288A>T	uc002sgp.2	-	3	180	c.92T>A	c.(91-93)TTG>TAG	p.L31*	SNRPG_uc002sgo.2_RNA	NM_003096	NP_003087	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	31					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0						AAATCCCCGCAATATTCCTTG	0.358		NaN											0	0	0	0.021553	0	6	100				
SNRPG	6637	broad.mit.edu	37	2	70515306	70515306	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515306C>A	uc002sgp.2	-	3	162	c.74G>T	c.(73-75)AGA>ATA	p.R25I	SNRPG_uc002sgo.2_RNA	NM_003096	NP_003087	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0						TTGGACATGTCTGCCACCATT	0.363		NaN											1	0	0.000602214	0.014758	0.000613264	5	83				
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70890768G>A	uc002sgz.2	-	16	2435	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.T351M|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	657					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TTCCTCTGCCGTCTGCTCCTC	0.572		NaN											0	0	0	0.146539	0	16	151				
FER1L5	90342	broad.mit.edu	37	2	97370381	97370381	+	Silent	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:97370381A>G	uc010fia.2	+	52	6234	c.6234A>G	c.(6232-6234)ACA>ACG	p.T2078T	FER1L5_uc002sws.3_Silent_p.T787T|FER1L5_uc002swt.3_Silent_p.T787T|FER1L5_uc010yus.1_Silent_p.T786T	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	2078						integral to membrane				ovary(1)	1						CAGGACCCACAAATCACCTGA	0.527		NaN											0	0	0	0.09836	0	41	57				
POU3F3	5455	broad.mit.edu	37	2	105473459	105473459	+	Silent	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:105473459G>C	uc010ywg.1	+	1	1491	c.1491G>C	c.(1489-1491)ACG>ACC	p.T497T		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	497					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						GGCTGCAGACGAGCGTTCAGT	0.473		NaN											0	0	0	0.150653	0	4	16				
NCKAP5	344148	broad.mit.edu	37	2	133539920	133539920	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:133539920T>G	uc002ttp.2	-	14	4838	c.4464A>C	c.(4462-4464)CAA>CAC	p.Q1488H	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1488							protein binding				0						TTGTTTGCACTTGGCCCTTTT	0.507		NaN											0	0	0	0.080935	0	11	108				
ZRANB3	84083	broad.mit.edu	37	2	136107733	136107733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:136107733C>T	uc002tum.2	-	5	529	c.412G>A	c.(412-414)GAT>AAT	p.D138N	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D138N|ZRANB3_uc002tun.1_Missense_Mutation_p.D78N	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	138	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTTTGCATCTGCGGTTAAG	0.373		NaN											0	0	0	0.02938	0	5	29				
LRP1B	53353	broad.mit.edu	37	2	141079602	141079602	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:141079602A>T	uc002tvj.1	-	82	13542	c.12570T>A	c.(12568-12570)TCT>TCA	p.S4190S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4190	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTGGCCCCAGAAGGATTTA	0.368		NaN								TSP Lung(27;0.18)			0	0	0	0.139131	0	48	36				
COL4A3	1285	broad.mit.edu	37	2	228104885	228104885	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:228104885C>T	uc002vom.1	+	3	333	c.171C>T	c.(169-171)CCC>CCT	p.P57P	COL4A3_uc002von.1_Silent_p.P57P|COL4A3_uc002voo.1_Silent_p.P57P|COL4A3_uc002vop.1_Silent_p.P57P|uc002voq.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	57	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGACCCCCCGGTTCTCCTG	0.517		NaN											0	0	0	0.11911	0	14	2				
CHGB	1114	broad.mit.edu	37	20	5904368	5904368	+	Silent	SNP	C	C	T	rs138422072		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:5904368C>T	uc002wmg.2	+	4	1884	c.1578C>T	c.(1576-1578)TAC>TAT	p.Y526Y	CHGB_uc010zqz.1_Silent_p.Y209Y	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	526						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						ACCCATACTACGACCCTCTCC	0.438		NaN											0	0	0	0.021553	0	6	96				
C20orf12	55184	broad.mit.edu	37	20	18371024	18371024	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:18371024T>G	uc010zsa.1	-	18	2155	c.1946A>C	c.(1945-1947)GAG>GCG	p.E649A	C20orf12_uc010zrz.1_Missense_Mutation_p.E168A|C20orf12_uc002wqp.3_Missense_Mutation_p.E340A|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E516A|C20orf12_uc002wqq.3_Missense_Mutation_p.E630A	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	457	ANK 1.					intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				AACACTTACCTCATCCAGCAG	0.483		NaN											0	0	0	0.116897	0	26	91				
TOP1	7150	broad.mit.edu	37	20	39728847	39728847	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:39728847G>A	uc002xjl.2	+	12	1373	c.1127G>A	c.(1126-1128)CGA>CAA	p.R376Q	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	376					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTGAAGAGACGAATCATGCCC	0.507		NaN	T	NUP98	AML*								0	0	0	0.0918	0	24	27				
IGSF5	150084	broad.mit.edu	37	21	41142905	41142905	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr21:41142905G>A	uc002yyo.2	+	4	584	c.481G>A	c.(481-483)GTT>ATT	p.V161I		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	161	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				ACCTTGTGAAGTTACTTGTCT	0.468		NaN											0	0	0	0.074837	0	34	46				
FAM118A	55007	broad.mit.edu	37	22	45719182	45719182	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:45719182C>T	uc003bfz.3	+	4	790	c.174C>T	c.(172-174)GCC>GCT	p.A58A	FAM118A_uc003bga.3_Silent_p.A58A	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	58						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCATCGAGGCCGTCATCGAGG	0.642		NaN											0	0	0	0.014758	0	5	83				
PLXNB2	23654	broad.mit.edu	37	22	50721182	50721182	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:50721182T>G	uc003bkv.3	-	18	3051	c.2945A>C	c.(2944-2946)AAC>ACC	p.N982T	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	982	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTACGGGGTTTTCGCGGTA	0.677		NaN											0	0	0	0.11911	0	7	16				
GTPBP8	29083	broad.mit.edu	37	3	112715770	112715770	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:112715770G>C	uc003dzn.2	+	4	645	c.598G>C	c.(598-600)GTT>CTT	p.V200L	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.V167L	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	200	G.				barrier septum formation		GTP binding				0						AGTGGATAGCGTTGTTGGAAT	0.318		NaN											0	0	0	0.021553	0	6	64				
ZIC1	7545	broad.mit.edu	37	3	147128234	147128234	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:147128234C>T	uc003ewe.2	+	1	1054	c.335C>T	c.(334-336)GCG>GTG	p.A112V		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	112	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GACGCGGCGGCGGCAGCCAGC	0.701		NaN											0	0	0	0.038147	0	7	70				
DGKQ	1609	broad.mit.edu	37	4	961427	961427	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:961427C>T	uc003gbw.2	-	8	971	c.897G>A	c.(895-897)ACG>ACA	p.T299T	DGKQ_uc010ibn.2_Silent_p.T299T	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	299					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGATCTTCAGCGTTTGCTTCC	0.667		NaN											0	0	0	0.132662	0	14	16				
NSUN7	79730	broad.mit.edu	37	4	40752759	40752759	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:40752759G>A	uc003gvj.3	+	2	544	c.49G>A	c.(49-51)GAG>AAG	p.E17K	NSUN7_uc003gvh.2_Missense_Mutation_p.E17K|NSUN7_uc003gvi.3_Missense_Mutation_p.E17K	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						AGAAGATCCCGAGATCATCTC	0.552		NaN											0	0	0	0.069288	0	23	46				
IGJ	3512	broad.mit.edu	37	4	71522981	71522981	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:71522981G>T	uc003hfn.3	-	3	357	c.216C>A	c.(214-216)ATC>ATA	p.I72I	IGJ_uc010ihz.2_Silent_p.I88I	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	72					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			TGGGATCAGAGATATTCTCCC	0.323		NaN											1	0	1.96292e-10	0.055883	2.13612e-10	18	70				
PCDHA9	9752	broad.mit.edu	37	5	140229323	140229323	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229323C>T	uc003lhu.2	+	1	1967	c.1243C>T	c.(1243-1245)CGC>TGC	p.R415C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R415C	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGACCGCGAGAGTGT	0.642		NaN											0	0	0	0.163468	0	33	125				
PCDHA9	9752	broad.mit.edu	37	5	140229587	140229587	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229587T>G	uc003lhu.2	+	1	2231	c.1507T>G	c.(1507-1509)TCG>GCG	p.S503A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S503A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCTCGCTGTCGAG	0.672		NaN											0	0	0	0.173368	0	30	167				
PRR7	80758	broad.mit.edu	37	5	176882976	176882976	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:176882976C>T	uc003mgu.1	+	4	1171	c.679C>T	c.(679-681)CCA>TCA	p.P227S	PRR7_uc003mgv.1_Missense_Mutation_p.P227S|PRR7_uc003mgw.1_Missense_Mutation_p.P227S	NM_030567	NP_085044	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	227	Pro-rich.|Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0	all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCCTGCCCAGCCCTCTG	0.746		NaN											0	0	0	0.02938	0	7	5				
ZNF354A	6940	broad.mit.edu	37	5	178139989	178139989	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:178139989G>C	uc003mjj.2	-	5	1088	c.890C>G	c.(889-891)TCC>TGC	p.S297C		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	297					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACATCTGTAGGATTTCTCCAC	0.378		NaN											0	0	0	0.076483	0	24	78				
DSP	1832	broad.mit.edu	37	6	7580718	7580718	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:7580718A>C	uc003mxp.1	+	23	4574	c.4295A>C	c.(4294-4296)CAG>CCG	p.Q1432P	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1432	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATCCAACAGCAAAAGGCC	0.488		NaN											0	0	0	0.049695	0	19	63				
RIMS1	22999	broad.mit.edu	37	6	72889512	72889512	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:72889512A>T	uc003pga.2	+	5	783	c.706A>T	c.(706-708)AGC>TGC	p.S236C	RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	236					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTCCTCCCAGCGCACCACC	0.587		NaN											0	0	0	0.104719	0	41	22				
BBS9	27241	broad.mit.edu	37	7	33217147	33217147	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:33217147A>G	uc003tdn.1	+	5	899	c.386A>G	c.(385-387)CAT>CGT	p.H129R	BBS9_uc003tdo.1_Missense_Mutation_p.H129R|BBS9_uc003tdp.1_Missense_Mutation_p.H129R|BBS9_uc003tdq.1_Missense_Mutation_p.H129R|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.H129R|BBS9_uc011kao.1_Missense_Mutation_p.H7R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	129					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ATGTATGAACATAATCTTCAG	0.343		NaN							Bardet-Biedl_syndrome				0	0	0	0.139131	0	51	55				
POU6F2	11281	broad.mit.edu	37	7	39472816	39472816	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:39472816G>T	uc003thb.1	+	7	1209	c.1167G>T	c.(1165-1167)GGG>GGT	p.G389G		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	389	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CAGTCATTGGGAACCAGATCC	0.612		NaN											1	0	5.50884e-06	0.09319	5.71477e-06	12	76				
ST7	7982	broad.mit.edu	37	7	116869933	116869933	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:116869933A>C	uc011knn.1	+	14	1465	c.1460A>C	c.(1459-1461)CAC>CCC	p.H487P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCTCCACTCACCTCACCCGC	0.522		NaN											0	0	0	0.124865	0	26	55				
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:116869938A>C	uc011knn.1	+	14	1470	c.1465A>C	c.(1465-1467)ACC>CCC	p.T489P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507		NaN											0	0	0	0.139131	0	18	50				
SSPO	23145	broad.mit.edu	37	7	149508082	149508082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:149508082G>A	uc010lpk.2	+	67	9476	c.9476G>A	c.(9475-9477)CGT>CAT	p.R3159H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3159					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGTGGTTCGTCCATGTGAA	0.607		NaN											0	0	0	0.080935	0	12	36				
C8orf74	203076	broad.mit.edu	37	8	10555320	10555320	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:10555320C>T	uc003wtd.1	+	3	482	c.453C>T	c.(451-453)CTC>CTT	p.L151L	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	151											0				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCCCTCCCGCTGGCCG	0.652		NaN											0	0	0	0.183431	0	34	38				
ZHX2	22882	broad.mit.edu	37	8	123965291	123965291	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:123965291C>T	uc003ypk.1	+	3	2108	c.1541C>T	c.(1540-1542)GCG>GTG	p.A514V		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCCATCGCGGCCTCCCGA	0.537		NaN											0	0	0	0.163468	0	33	18				
EPPK1	83481	broad.mit.edu	37	8	144940347	144940347	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:144940347C>T	uc003zaa.1	-	2	15098	c.15085G>A	c.(15085-15087)GTG>ATG	p.V5029M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5029	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.692		NaN											0	0	0	0.139131	0	49	731				
TLE1	7088	broad.mit.edu	37	9	84300624	84300624	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:84300624C>A	uc004aly.2	-	4	642	c.201G>T	c.(199-201)ATG>ATT	p.M67I	TLE1_uc004alz.2_Missense_Mutation_p.M67I|TLE1_uc011lsr.1_Missense_Mutation_p.M67I|TLE1_uc004ama.1_Missense_Mutation_p.M67I|TLE1_uc011lss.1_Missense_Mutation_p.M67I|TLE1_uc004amb.2_Missense_Mutation_p.M67I	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	67	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						ATCCATATGACATTTCATAAT	0.294		NaN											1	0	5.9392e-07	0.021553	6.27858e-07	5	11				
HABP4	22927	broad.mit.edu	37	9	99250477	99250477	+	Missense_Mutation	SNP	G	G	A	rs141094261	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:99250477G>A	uc010msg.2	+	7	1254	c.1106G>A	c.(1105-1107)CGT>CAT	p.R369H	HABP4_uc010msh.2_Missense_Mutation_p.R264H	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	369					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGTCCTGGGCGTGGAGCCAGA	0.552		NaN											0	0	0	0.055883	0	22	33				
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:113168736G>A	uc010mtz.2	-	38	9481	c.9144C>T	c.(9142-9144)GCC>GCT	p.A3048A	SVEP1_uc010mty.2_Silent_p.A974A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3048	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ACTGGCCATCGGCTTCACAGG	0.498		NaN											0	0	0	0.055883	0	20	50				
PAPPA	5069	broad.mit.edu	37	9	119115032	119115032	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:119115032C>G	uc004bjn.2	+	16	4393	c.4012C>G	c.(4012-4014)CCA>GCA	p.P1338A	PAPPA_uc011lxq.1_Missense_Mutation_p.P713A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1338	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GTGGTCCTTCCCAGAGGCCCT	0.602		NaN											0	0	0	0.0918	0	24	21				
SNAPC4	6621	broad.mit.edu	37	9	139273307	139273307	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:139273307G>A	uc004chh.2	-	21	2981	c.2972C>T	c.(2971-2973)CCT>CTT	p.P991L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	991	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGAGAAGACAGGAGCGAGGGG	0.667		NaN											0	0	0	0.02938	0	7	7				
DMD	1756	broad.mit.edu	37	X	32486811	32486811	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:32486811A>G	uc004dda.1	-	23	3210	c.2966T>C	c.(2965-2967)CTG>CCG	p.L989P	DMD_uc004dcz.2_Missense_Mutation_p.L866P|DMD_uc004dcy.1_Missense_Mutation_p.L985P|DMD_uc004ddb.1_Missense_Mutation_p.L981P|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	989	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCTCTTGCAGAGAACTTTG	0.328		NaN											0	0	0	0.105934	0	14	50				
BMP15	9210	broad.mit.edu	37	X	50659529	50659529	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:50659529C>T	uc011mnw.1	+	2	1101	c.1101C>T	c.(1099-1101)GTC>GTT	p.V367V		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	367					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					CAATTAGTGTCCTTATGATTG	0.463		NaN											0	0	0	0.076483	0	25	97				
RGAG4	340526	broad.mit.edu	37	X	71351227	71351227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:71351227C>T	uc010nlh.1	-	1	525	c.164G>A	c.(163-165)CGC>CAC	p.R55H	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	55										ovary(2)|skin(1)	3	Renal(35;0.156)					TACTGGCCAGCGGATGTAGCT	0.587		NaN											0	0	0	0.055883	0	19	50				
TBX22	50945	broad.mit.edu	37	X	79283540	79283540	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:79283540C>T	uc010nmg.1	+	8	1048	c.914C>T	c.(913-915)ACT>ATT	p.T305I	TBX22_uc004edi.1_Missense_Mutation_p.T185I|TBX22_uc004edj.1_Missense_Mutation_p.T305I	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	305					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CCTTCTTTCACTCTCGATTTT	0.383		NaN											0	0	0	0.069234	0	11	15				
ARID1A	8289	broad.mit.edu	37	1	27099309	27099309	+	Frame_Shift_Del	DEL	C	C	-	rs138311127		TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:27099309delC	uc001bmv.1	+	14	3919	c.3546delC	c.(3544-3546)AGCfs	p.S1182fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S1181fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S1182fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S799fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.S28fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1182					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCAGGAGCAATTCAGTTG	0.478		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	29	43	---	Valid	---	---
PEAR1	375033	broad.mit.edu	37	1	156884482	156884483	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr1:156884482_156884483insC	uc001fqj.1	+	23	3122_3123	c.3006_3007insC	c.(3004-3009)CTACCCfs	p.L1002fs	PEAR1_uc001fqk.1_Frame_Shift_Ins_p.L627fs	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1002_1003	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCGGGCCTACCCCCCGGCCA	0.609		NaN											NaN	NaN	NaN	NaN	NaN	17	139	---		---	---
B3GNT9	84752	broad.mit.edu	37	16	67184256	67184256	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr16:67184256delC	uc002erf.2	-	2	454	c.133delG	c.(133-135)GCGfs	p.A45fs	uc002erg.1_3'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	45	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						CTCGGTGCCGCCCTCCCTCGC	0.766		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
LRFN3	79414	broad.mit.edu	37	19	36431511	36431517	+	Frame_Shift_Del	DEL	CCAGCTG	CCAGCTG	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr19:36431511_36431517delCCAGCTG	uc002oco.2	+	2	1636_1642	c.1184_1190delCCAGCTG	c.(1183-1191)ACCAGCTGTfs	p.T395fs		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	395_397	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAACAGCACCAGCTGTGACCCCCCG	0.671		NaN											NaN	NaN	NaN	NaN	NaN	36	68	---		---	---
FIGN	55137	broad.mit.edu	37	2	164467360	164467361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr2:164467360_164467361insA	uc002uck.1	-	3	1292_1293	c.981_982insT	c.(979-984)GGAGATfs	p.G327fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	327_328						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GAGTCCATATCTCCTTGCCCTG	0.465		NaN											NaN	NaN	NaN	NaN	NaN	80	89	---		---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr20:56099187delT	uc010gix.1	-	1	737	c.75delA	c.(73-75)AAAfs	p.K25fs	CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	7	723	---		---	---
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:46306948delT	uc003cpg.1	+	4	842	c.299delT	c.(298-300)GTTfs	p.V100fs	CCR3_uc003cpi.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpj.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.1_Frame_Shift_Del_p.V121fs|CCR3_uc010hjb.1_Frame_Shift_Del_p.V118fs|CCR3_uc003cpl.1_Frame_Shift_Del_p.V133fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	100	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488		NaN											NaN	NaN	NaN	NaN	NaN	9	2458	---		---	---
SLMAP	7871	broad.mit.edu	37	3	57893702	57893702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:57893702delA	uc003dje.1	+	16	1747	c.1542delA	c.(1540-1542)AGAfs	p.R514fs	SLMAP_uc003djd.1_Frame_Shift_Del_p.R497fs|SLMAP_uc003djf.1_Frame_Shift_Del_p.R476fs|SLMAP_uc003djg.1_Frame_Shift_Del_p.R108fs|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Frame_Shift_Del_p.R48fs|SLMAP_uc003djh.2_Intron|SLMAP_uc003dji.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfb.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfc.1_Intron	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	514	Cytoplasmic (Potential).|Potential.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCTAGCTAGAACAAGTAAAC	0.343		NaN											NaN	NaN	NaN	NaN	NaN	9	72	---		---	---
PDZRN3	23024	broad.mit.edu	37	3	73433413	73433414	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:73433413_73433414insG	uc003dpl.1	-	10	2399_2400	c.2303_2304insC	c.(2302-2304)CCGfs	p.P768fs	PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.P425fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.P466fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.P485fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.P488fs	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	768							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGGGTGAGCGGGGTGCTGCG	0.649		NaN											NaN	NaN	NaN	NaN	NaN	12	52	---		---	---
GOLGB1	2804	broad.mit.edu	37	3	121409850	121409851	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr3:121409850_121409851insTC	uc003eei.3	-	14	8471_8472	c.8345_8346insGA	c.(8344-8346)GATfs	p.D2782fs	GOLGB1_uc010hrc.2_Frame_Shift_Ins_p.D2787fs|GOLGB1_uc003eej.3_Frame_Shift_Ins_p.D2748fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2782	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AAAGAAGAGCATCTCTCTCTCT	0.426		NaN											NaN	NaN	NaN	NaN	NaN	33	125	---		---	---
VPS13B	157680	broad.mit.edu	37	8	100847965	100847973	+	Splice_Site	DEL	AGGTCAGTG	AGGTCAGTG	-			TCGA-BL-A0C8-01A-11D-A10S-08	TCGA-BL-A0C8-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	134b0a5e-a0ba-444d-bc4b-bdceb02d5b04	f6f41c41-66ba-4975-89ba-044ef679332d	g.chr8:100847965_100847973delAGGTCAGTG	uc003yiv.2	+	54	10128	c.10017_splice	c.e54+1	p.Q3339_splice	VPS13B_uc003yiw.2_Splice_Site_p.Q3314_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5						protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGGAACACAGGTCAGTGAGCCATGTGT	0.402		NaN											NaN	NaN	NaN	NaN	NaN	26	112	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27094409	27094410	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:27094409_27094410delAA	uc001bmv.1	+	11	3490_3491	c.3117_3118delAA	c.(3115-3120)ACAAATfs	p.T1039fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1039fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T656fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1039_1040	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGCATGACAAATCTGCCTGC	0.535		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	69	98	---	Valid	---	---
GLIS1	148979	broad.mit.edu	37	1	53975643	53975644	+	Frame_Shift_Ins	INS	-	-	G	rs149623150	by1000genomes	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:53975643_53975644insG	uc001cvr.1	-	8	1982_1983	c.1415_1416insC	c.(1414-1416)CCGfs	p.P472fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	472	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGGCAGCGGCGGTGGCCCCAG	0.688		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PDXDC1	23042	broad.mit.edu	37	16	15110963	15110989	+	Splice_Site	DEL	GTTTTTTCTTCCAGTGTGAATCTGGCA	GTTTTTTCTTCCAGTGTGAATCTGGCA	-	rs3205773		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA	uc002dda.3	+	10	1037	c.813_splice	c.e10-1	p.G271_splice	PDXDC1_uc010uzl.1_Splice_Site_p.G256_splice|PDXDC1_uc010uzm.1_Splice_Site_p.G180_splice|PDXDC1_uc002dcz.2_Splice_Site_p.G248_splice|PDXDC1_uc002ddb.3_Splice_Site_p.G244_splice|PDXDC1_uc010uzn.1_Splice_Site_p.G243_splice|PDXDC1_uc002ddc.2_Splice_Site_p.G271_splice	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain						carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TTGGACTGGTGTTTTTTCTTCCAGTGTGAATCTGGCAACATTGGCTC	0.348		NaN											NaN	NaN	NaN	NaN	NaN	8	702	---		---	---
RUNX2	860	broad.mit.edu	37	6	45514577	45514577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:45514577delG	uc011dvx.1	+	9	1311	c.1101delG	c.(1099-1101)CTGfs	p.L367fs	RUNX2_uc011dvy.1_Frame_Shift_Del_p.L345fs|RUNX2_uc003oxt.2_Frame_Shift_Del_p.L353fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	367	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						CTTCAGAACTGGGCCCTTTTT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	15	80	---		---	---
EDC4	23644	broad.mit.edu	37	16	67911712	67911712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr16:67911712delC	uc002eur.2	+	7	1024	c.858delC	c.(856-858)ATCfs	p.I286fs	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Frame_Shift_Del_p.I218fs|EDC4_uc010ces.1_Frame_Shift_Del_p.I129fs|EDC4_uc002eus.2_Frame_Shift_Del_p.I16fs	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	286					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTAGCCAGATCAAGCAGGGCT	0.582		NaN											NaN	NaN	NaN	NaN	NaN	55	86	---		---	---
PHLPP1	23239	broad.mit.edu	37	18	60562283	60562283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A13J-01A-11D-A10S-08	TCGA-BL-A13J-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c7aca3f-e006-4de3-afc2-20b4f727d4fd	e34479b8-834f-4747-984b-e77272f1379d	g.chr18:60562283delT	uc002lis.2	+	6	748	c.570delT	c.(568-570)CATfs	p.H190fs		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	702	LRR 3.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CCAATAATCATTTAGGGGACT	0.438		NaN											NaN	NaN	NaN	NaN	NaN	18	28	---		---	---
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr1:158151257delT	uc001frr.2	+	3	573	c.74delT	c.(73-75)CTTfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.2_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	25	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592		NaN											NaN	NaN	NaN	NaN	NaN	7	868	---		---	---
LRFN4	78999	broad.mit.edu	37	11	66627383	66627383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr11:66627383delG	uc001ojr.2	+	2	1965	c.1625delG	c.(1624-1626)CGGfs	p.R542fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	542	Cytoplasmic (Potential).					integral to membrane					0						GTTCGGGGCCGGGGGGCCGGA	0.657		NaN											NaN	NaN	NaN	NaN	NaN	21	58	---		---	---
PLEKHG6	55200	broad.mit.edu	37	12	6436757	6436759	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:6436757_6436759delGAA	uc001qnr.2	+	15	2156_2158	c.2008_2010delGAA	c.(2008-2010)GAAdel	p.E671del	PLEKHG6_uc010sew.1_In_Frame_Del_p.E671del|PLEKHG6_uc010sex.1_In_Frame_Del_p.E639del	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	671					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						CTGGTCTGAGGAAGAAGATGGGG	0.631		NaN											NaN	NaN	NaN	NaN	NaN	5	6	---		---	---
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871016	+	Frame_Shift_Ins	INS	-	-	TTCT			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:12871015_12871016insTTCT	uc001rat.2	+	1	714_715	c.242_243insTTCT	c.(241-243)AAGfs	p.K81fs		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	81					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTGC	0.614		NaN							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				NaN	NaN	NaN	NaN	NaN	72	103	---		---	---
IL31	386653	broad.mit.edu	37	12	122658748	122658748	+	Splice_Site	DEL	G	G	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr12:122658748delG	uc001ubv.2	-	1	1	c.-26_splice	c.e1-1		LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor							extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGCTTCAGTGGGGGCTTCTG	0.572		NaN											NaN	NaN	NaN	NaN	NaN	33	48	---		---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:8222137_8222138insG	uc002glc.2	+	12	2063_2064	c.1942_1943insG	c.(1942-1944)AGGfs	p.R648fs	ARHGEF15_uc002gld.2_Frame_Shift_Ins_p.R648fs|ARHGEF15_uc010vuw.1_Frame_Shift_Ins_p.R537fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AGGGTGCCGGAGGGGGGGCGTG	0.634		NaN											NaN	NaN	NaN	NaN	NaN	7	812	---		---	---
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:42980014_42980015delAG	uc002iho.2	+	4	641_642	c.558_559delAG	c.(556-561)GCAGAGfs	p.A186fs	CCDC103_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	186_187										kidney(1)	1		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	11	116	---		---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr17:74068528_74068530delGCC	uc002jqk.1	-	1	78_80	c.43_45delGGC	c.(43-45)GGCdel	p.G15del	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_In_Frame_Del_p.G15del|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						cgccgccactgccgccgccgccg	0.429		NaN											NaN	NaN	NaN	NaN	NaN	8	118	---		---	---
KIAA1683	80726	broad.mit.edu	37	19	18378205	18378206	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:18378205_18378206delTC	uc002nin.2	-	3	360_361	c.144_145delGA	c.(142-147)GAGAAAfs	p.E48fs	KIAA1683_uc010ebn.2_Frame_Shift_Del_p.E48fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.E2fs	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	48_49						mitochondrion				ovary(2)	2						GGAGGCGCTTTCTCCATTTTGT	0.653		NaN											NaN	NaN	NaN	NaN	NaN	64	163	---		---	---
SPTBN4	57731	broad.mit.edu	37	19	41076449	41076450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BL-A3JM-01A-12D-A21A-08	TCGA-BL-A3JM-11A-31D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b181ba68-f50f-4faf-b7b5-356e119b5f04	6f399153-4bf7-482b-9657-331028dd9a37	g.chr19:41076449_41076450insA	uc002ony.2	+	33	7220_7221	c.7134_7135insA	c.(7132-7137)CCCAAGfs	p.P2378fs	SPTBN4_uc002onz.2_Frame_Shift_Ins_p.P2378fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.P1121fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2378_2379					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			gggaccggcccaagccgcgacg	0.332		NaN											NaN	NaN	NaN	NaN	NaN	6	9	---		---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr1:248801602_248801603insCA	uc001ies.1	-	1	957_958	c.957_958insTG	c.(955-960)GTGATCfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T,	319_320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
MRM1	79922	broad.mit.edu	37	17	34958251	34958281	+	Frame_Shift_Del	DEL	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	CTCGACCGTCCGGGGCGCGACCTGGGGTCGC	-	rs141604685		TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	uc002hne.2	+	1	227_257	c.12_42delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC	c.(10-42)CTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCfs	p.L4fs	MRM1_uc002hnf.2_5'Flank	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	4_14					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCATTGCTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCCTCGTCACCC	0.697		NaN											NaN	NaN	NaN	NaN	NaN	14	97	---		---	---
SCN2A	6326	broad.mit.edu	37	2	166237618	166237619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr2:166237618_166237619insT	uc002udc.2	+	25	4752_4753	c.4462_4463insT	c.(4462-4464)ATTfs	p.I1488fs	SCN2A_uc002udd.2_Frame_Shift_Ins_p.I1488fs|SCN2A_uc002ude.2_Frame_Shift_Ins_p.I1488fs	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1488	III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGGTCAAGACATTTTTATGACA	0.347		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
DOPEY1	23033	broad.mit.edu	37	6	83818634	83818650	+	Frame_Shift_Del	DEL	GATTATTTCCTCTTCTT	GATTATTTCCTCTTCTT	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:83818634_83818650delGATTATTTCCTCTTCTT	uc003pjs.1	+	5	586_602	c.326_342delGATTATTTCCTCTTCTT	c.(325-342)GGATTATTTCCTCTTCTTfs	p.G109fs	DOPEY1_uc011dyy.1_Frame_Shift_Del_p.G109fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.G109fs	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	109_114					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATAGTTCTGGATTATTTCCTCTTCTTGCAAATGCTG	0.318		NaN											NaN	NaN	NaN	NaN	NaN	14	110	---		---	---
TCP10L2	401285	broad.mit.edu	37	6	167590551	167590552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167590551_167590552insC	uc010kkp.2	+	4	558_559	c.427_428insC	c.(427-429)GCTfs	p.A143fs		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	143											0						GCCCAAATACGCTGGCCGCAAG	0.465		NaN											NaN	NaN	NaN	NaN	NaN	21	197	---		---	---
TCP10	6953	broad.mit.edu	37	6	167791512	167791513	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr6:167791512_167791513insG	uc003qvv.1	-	4	559_560	c.347_348insC	c.(346-348)GCTfs	p.A116fs	TCP10_uc003qvu.2_Frame_Shift_Ins_p.A116fs|TCP10_uc003qvw.2_Frame_Shift_Ins_p.A92fs	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	143						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTTGCGGCCAGCGTATTTGGG	0.46		NaN											NaN	NaN	NaN	NaN	NaN	7	122	---		---	---
CCDC136	64753	broad.mit.edu	37	7	128434455	128434457	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chr7:128434455_128434457delGAA	uc003vnv.1	+	2	437_439	c.70_72delGAA	c.(70-72)GAAdel	p.E26del	CCDC136_uc003vnu.1_In_Frame_Del_p.E76del|CCDC136_uc003vnw.1_In_Frame_Del_p.E26del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	26	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						ggaagaggaggaagaagaggtgg	0.394		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44896934	44896934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A0S7-01A-11D-A10S-08	TCGA-BT-A0S7-10A-01D-A10S-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2e5d244-94c1-4dbf-8d33-34b595903310	5f37608e-793b-4409-ba17-aaebe59f214d	g.chrX:44896934delG	uc004dge.3	+	8	1029	c.654delG	c.(652-654)CAGfs	p.Q218fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q218fs|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	218	TPR 4.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						ATGAAACCCAGGTAAGTATTT	0.303		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	23	24	---	Valid	---	---
MYOF	26509	broad.mit.edu	37	10	95132825	95132827	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr10:95132825_95132827delAGG	uc001kin.2	-	24	2440_2442	c.2317_2319delCCT	c.(2317-2319)CCTdel	p.P773del	MYOF_uc001kio.2_In_Frame_Del_p.P760del|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	773	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGATGATGTCAGGCATGCTGTTC	0.537		NaN											NaN	NaN	NaN	NaN	NaN	20	118	---		---	---
KLF5	688	broad.mit.edu	37	13	73636362	73636362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr13:73636362delA	uc001vje.2	+	2	949	c.625delA	c.(625-627)AAAfs	p.K209fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.K118fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	209					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TATTTTCATCAAACAAGAACT	0.532		NaN											NaN	NaN	NaN	NaN	NaN	22	81	---	Valid	---	---
CD3EAP	10849	broad.mit.edu	37	19	45910365	45910365	+	Frame_Shift_Del	DEL	C	C	-	rs117289933	byFrequency	TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr19:45910365delC	uc002pbq.1	+	2	524	c.36delC	c.(34-36)TTCfs	p.F12fs	PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Frame_Shift_Del_p.F14fs	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	12					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CTGCTCGGTTCTCTTGTCCCC	0.592		NaN											NaN	NaN	NaN	NaN	NaN	52	163	---		---	---
FBXW7	55294	broad.mit.edu	37	4	153249367	153249367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A0YX-01A-11D-A10S-08	TCGA-BT-A0YX-10A-01D-A10S-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff	b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e	g.chr4:153249367delC	uc003ims.2	-	9	1560	c.1411delG	c.(1411-1413)GAAfs	p.E471fs	FBXW7_uc011cii.1_Frame_Shift_Del_p.E471fs|FBXW7_uc003imt.2_Frame_Shift_Del_p.E471fs|FBXW7_uc011cih.1_Frame_Shift_Del_p.E295fs|FBXW7_uc003imq.2_Frame_Shift_Del_p.E391fs|FBXW7_uc003imr.2_Frame_Shift_Del_p.E353fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	471	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTTTTTTCATGAAGATGC	0.413		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								NaN	NaN	NaN	NaN	NaN	51	179	---	Valid	---	---
PABPC4	8761	broad.mit.edu	37	1	40038094	40038094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40038094delA	uc010oiv.1	-	2	1256	c.358delT	c.(358-360)TCTfs	p.S120fs	PABPC4_uc001cdl.2_Frame_Shift_Del_p.S120fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.S120fs	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	120	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAAAAGCAGAAAAAGTATCA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	12	516	---		---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40713708_40713709delTC	uc001cfe.2	+	1	136_137	c.43_44delTC	c.(43-45)TCTfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				ovary(1)	1	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406		NaN											NaN	NaN	NaN	NaN	NaN	11	1610	---		---	---
MLL	4297	broad.mit.edu	37	11	118373957	118373969	+	Frame_Shift_Del	DEL	GGAACCTGGTCAG	GGAACCTGGTCAG	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			GGAACCTGGTCAG	-	GGAACCTGGTCAG	GGAACCTGGTCAG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118373957_118373969delGGAACCTGGTCAG	uc001pta.2	+	27	7364_7376	c.7341_7353delGGAACCTGGTCAG	c.(7339-7353)TTGGAACCTGGTCAGfs	p.L2447fs	MLL_uc001ptb.2_Frame_Shift_Del_p.L2450fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2447_2451					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATCTTTTTTGGAACCTGGTCAGGTGACAACTG	0.404		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								NaN	NaN	NaN	NaN	NaN	14	53	---	Valid	---	---
TMBIM6	7009	broad.mit.edu	37	12	50156659	50156667	+	In_Frame_Del	DEL	AAGAAGAAA	AAGAAGAAA	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:50156659_50156667delAAGAAGAAA	uc001rux.2	+	10	826_834	c.694_702delAAGAAGAAA	c.(694-702)AAGAAGAAAdel	p.KKK232del	TMBIM6_uc010sml.1_3'UTR|TMBIM6_uc001ruy.2_In_Frame_Del_p.KKK290del|TMBIM6_uc001ruz.2_In_Frame_Del_p.KKK232del	NM_003217	NP_003208	P55061	BI1_HUMAN	testis enhanced gene transcript (BAX inhibitor	232_234					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus					0						TTTCTAGGATAAGAAGAAAGAGAAGAAAT	0.397		NaN									OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	8	178	---		---	---
GPR180	160897	broad.mit.edu	37	13	95273330	95273330	+	Splice_Site	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:95273330delA	uc001vly.2	+	6	815	c.737_splice	c.e6-2	p.F246_splice	GPR180_uc001vlz.2_Splice_Site_p.F145_splice|GPR180_uc010afi.2_Splice_Site_p.F7_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor							integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATGTCCCATTAGTTTTTGACA	0.333		NaN											NaN	NaN	NaN	NaN	NaN	42	54	---		---	---
SUPT16H	11198	broad.mit.edu	37	14	21828595	21828597	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:21828595_21828597delAAT	uc001wao.2	-	18	2491_2493	c.2152_2154delATT	c.(2152-2154)ATTdel	p.I718del	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	718					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTGCAAGACAATAATCATTTCT	0.271		NaN											NaN	NaN	NaN	NaN	NaN	17	98	---		---	---
WDR60	55112	broad.mit.edu	37	7	158704352	158704353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:158704352_158704353insA	uc003woe.3	+	12	1730_1731	c.1572_1573insA	c.(1570-1575)GGGAAAfs	p.G524fs	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Frame_Shift_Ins_p.G156fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	524_525								p.G524R(1)		ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAAACTTTGGGAAAAAAAATAC	0.332		NaN											NaN	NaN	NaN	NaN	NaN	16	93	---		---	---
HMCN1	83872	broad.mit.edu	37	1	186023082	186023082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186023082delG	uc001grq.1	+	44	7055	c.6826delG	c.(6826-6828)GGGfs	p.G2276fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2276	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAATGTTGCTGGGACTGCAAA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	11	93	---		---	---
FAM181A	90050	broad.mit.edu	37	14	94391663	94391664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:94391663_94391664insA	uc001ybz.1	+	2	353_354	c.46_47insA	c.(46-48)GCCfs	p.A16fs	C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	16											0						GAATGATGCAGCCCCCACAAAT	0.53		NaN											NaN	NaN	NaN	NaN	NaN	12	35	---		---	---
CCPG1	9236	broad.mit.edu	37	15	55652875	55652876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55652875_55652876insT	uc002acv.1	-	8	1260_1261	c.1095_1096insA	c.(1093-1098)AAACACfs	p.K365fs	CCPG1_uc002acy.2_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.K221fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.K90fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.K365fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.K365fs	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	365_366	Potential.|Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		AGAAAGCTGTGTTTTTTCTGCT	0.386		NaN											NaN	NaN	NaN	NaN	NaN	23	100	---		---	---
KIAA1310	55683	broad.mit.edu	37	2	97275285	97275287	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:97275285_97275287delTTT	uc002swn.3	-	12	1478_1480	c.1332_1334delAAA	c.(1330-1335)GCAAAG>GCG	p.K447del	KIAA1310_uc002swh.3_In_Frame_Del_p.K335del|KIAA1310_uc002swi.3_In_Frame_Del_p.K348del|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_In_Frame_Del_p.K360del|KIAA1310_uc010fhz.2_In_Frame_Del_p.K241del|KIAA1310_uc002swl.3_In_Frame_Del_p.K348del|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_In_Frame_Del_p.K241del|KIAA1310_uc002swp.1_In_Frame_Del_p.K348del|KIAA1310_uc002swq.1_In_Frame_Del_p.K219del|KIAA1310_uc010fhy.1_In_Frame_Del_p.K348del	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	447											0						TGATTTCTTCTTTGCTTTGCTTA	0.384		NaN											NaN	NaN	NaN	NaN	NaN	9	322	---		---	---
IRS1	3667	broad.mit.edu	37	2	227660807	227660808	+	In_Frame_Ins	INS	-	-	GCT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:227660807_227660808insGCT	uc002voh.3	-	1	2699_2700	c.2647_2648insAGC	c.(2647-2649)CCC>CAGCCC	p.882_883insQ		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	882_883					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCAGCAAGGgctgctgctgc	0.554		NaN											NaN	NaN	NaN	NaN	NaN	13	39	---		---	---
TACC3	10460	broad.mit.edu	37	4	1746465	1746472	+	Frame_Shift_Del	DEL	GGAGCAAG	GGAGCAAG	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:1746465_1746472delGGAGCAAG	uc003gdo.2	+	15	2465_2472	c.2357_2364delGGAGCAAG	c.(2356-2364)CGGAGCAAGfs	p.R786fs	TACC3_uc003gdp.2_Frame_Shift_Del_p.R426fs|TACC3_uc010ica.2_Frame_Shift_Del_p.R207fs	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	786_788	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCCAGGTCCGGAGCAAGGCCCAGGCGG	0.673		NaN											NaN	NaN	NaN	NaN	NaN	7	28	---		---	---
THAP9	79725	broad.mit.edu	37	4	83839377	83839377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83839377delT	uc003hnt.2	+	5	2131	c.2012delT	c.(2011-2013)CTTfs	p.L671fs	THAP9_uc003hns.1_Frame_Shift_Del_p.L527fs|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Frame_Shift_Del_p.L388fs	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	671							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				GACTTGGCGCTTTGGACAGTT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	13	105	---		---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171765673_171765674insA	uc003mbr.2	-	13	2606_2607	c.2435_2436insT	c.(2434-2436)TTGfs	p.L812fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGGA	0.609		NaN											NaN	NaN	NaN	NaN	NaN	17	15	---		---	---
OSBPL3	26031	broad.mit.edu	37	7	24849496	24849503	+	Frame_Shift_Del	DEL	CCGATGAA	CCGATGAA	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:24849496_24849503delCCGATGAA	uc003sxf.2	-	20	2645_2652	c.2240_2247delTTCATCGG	c.(2239-2247)GTTCATCGGfs	p.V747fs	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Frame_Shift_Del_p.V711fs|OSBPL3_uc003sxh.2_Frame_Shift_Del_p.V716fs|OSBPL3_uc003sxi.2_Frame_Shift_Del_p.V680fs	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	747_749					lipid transport		lipid binding|protein binding			skin(1)	1						TCCCAAACAGCCGATGAACCGCTTTTCC	0.5		NaN											NaN	NaN	NaN	NaN	NaN	68	160	---		---	---
RAD54B	25788	broad.mit.edu	37	8	95392597	95392609	+	Frame_Shift_Del	DEL	TGTTCAAGGTTTG	TGTTCAAGGTTTG	-	rs76782918		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392597_95392609delTGTTCAAGGTTTG	uc003ygk.2	-	12	2109_2121	c.2011_2023delCAAACCTTGAACA	c.(2011-2025)CAAACCTTGAACATTfs	p.Q671fs	RAD54B_uc010may.1_Frame_Shift_Del_p.Q478fs	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_28					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTTGTAAAATGTTCAAGGTTTGTGTATAGTTG	0.347		NaN						Direct_reversal_of_damage|Homologous_recombination					NaN	NaN	NaN	NaN	NaN	11	56	---		---	---
ABCA10	10349	broad.mit.edu	37	17	67183864	67183864	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67183864delC	uc010dfa.1	-	20	3167	c.2288delG	c.(2287-2289)CGCfs	p.R763fs	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.R364fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	763					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CTTTAAGAAGCGAAGTGTTGC	0.378		NaN											NaN	NaN	NaN	NaN	NaN	7	118	---		---	---
CAPN13	92291	broad.mit.edu	37	2	30974059	30974059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:30974059delG	uc002rnn.2	-	11	1322	c.1146delC	c.(1144-1146)ACCfs	p.T382fs	CAPN13_uc002rnp.1_Frame_Shift_Del_p.T382fs	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	382					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CGACAACATTGGTGCCTTCCA	0.468		NaN											NaN	NaN	NaN	NaN	NaN	8	46	---		---	---
NFAM1	150372	broad.mit.edu	37	22	42828309	42828310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42828309_42828310insT	uc003bcn.3	-	1	92_93	c.54_55insA	c.(52-57)CCTGGGfs	p.P18fs		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	18_19					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0						GCGGGGAGCCCAGGAGGGCGTG	0.663		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:72094757delT	uc001sws.2	+	6	1576	c.993delT	c.(991-993)GGTfs	p.G331fs	TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331	Helical; (Potential).					integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433		NaN											NaN	NaN	NaN	NaN	NaN	8	358	---		---	---
ZCCHC8	55596	broad.mit.edu	37	12	122975027	122975027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr12:122975027delG	uc001ucn.2	-	4	536	c.405delC	c.(403-405)TCCfs	p.S135fs	ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	135						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AAAGATTAAAGGAAGTCTTTT	0.338		NaN											NaN	NaN	NaN	NaN	NaN	20	27	---		---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr17:73569700_73569701insG	uc002joh.2	+	21	3018_3019	c.2864_2865insG	c.(2863-2865)CCGfs	p.P955fs	LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668		NaN											NaN	NaN	NaN	NaN	NaN	8	52	---		---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:8398950_8398961delTCGCTGTCGCCA	uc010dwa.2	-	5	1533_1544	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)GATGGCGACAGCGAG>GAG	p.DGDS489del	KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	489_492											0						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.693		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
RAVER1	125950	broad.mit.edu	37	19	10428414	10428414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr19:10428414delC	uc002moa.2	-	12	2156	c.2076delG	c.(2074-2076)GGGfs	p.G692fs	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Frame_Shift_Del_p.G60fs	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	519						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCCCAGGAGCCCTTCTCCGG	0.697		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PDXK	8566	broad.mit.edu	37	21	45161607	45161607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr21:45161607delG	uc002zdm.3	+	3	400	c.202delG	c.(202-204)GGCfs	p.G68fs	PDXK_uc010gpj.2_Frame_Shift_Del_p.G68fs|PDXK_uc002zdn.3_Frame_Shift_Del_p.G68fs|PDXK_uc002zdq.3_5'UTR	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	68					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTGTACGAAGGCCTGAGGCT	0.577		NaN											NaN	NaN	NaN	NaN	NaN	16	27	---		---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr4:1019055_1019056delCA	uc003gce.2	+	7	1596_1597	c.1435_1436delCA	c.(1435-1437)CACfs	p.H479fs	FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.|Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.46		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
LUC7L2	51631	broad.mit.edu	37	7	139094364	139094365	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chr7:139094364_139094365insAG	uc003vux.2	+	7	1117_1118	c.743_744insAG	c.(742-744)GAAfs	p.E248fs	LUC7L2_uc011kqs.1_Frame_Shift_Ins_p.E245fs|LUC7L2_uc011kqt.1_Frame_Shift_Ins_p.E314fs|LUC7L2_uc003vuy.2_Frame_Shift_Ins_p.E247fs|LUC7L2_uc003vuz.1_Frame_Shift_Ins_p.E195fs|LUC7L2_uc003vva.2_Frame_Shift_Ins_p.E195fs	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	248	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					AAACGAAGAGAAGAGAGAGAGA	0.396		NaN											NaN	NaN	NaN	NaN	NaN	6	11	---		---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72249350		TCGA-BT-A20P-01A-11D-A14W-08	TCGA-BT-A20P-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c78a98-f45b-482b-a551-4f11b8c1ff8b	dd05d620-285e-4734-924b-c16361749fa4	g.chrX:38079976_38079978delGCA	uc004ddy.1	-	1	154_156	c.68_70delTGC	c.(67-72)CTGCGC>CGC	p.L23del	SRPX_uc004ddz.1_In_Frame_Del_p.L23del|SRPX_uc011mkh.1_In_Frame_Del_p.L23del|SRPX_uc011mki.1_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane					0						GGCGGGACGCgcagcagcagcag	0.576		NaN									OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27099094	27099097	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			CAGT	-	CAGT	CAGT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:27099094_27099097delCAGT	uc001bmv.1	+	13	3883_3886	c.3510_3513delCAGT	c.(3508-3513)CACAGTfs	p.H1170fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.H787fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.H17fs|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1170_1171					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACACCACACAGTCAGATCCCCC	0.564		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	10	36	---	Valid	---	---
ELF3	1999	broad.mit.edu	37	1	201981870	201981871	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201981870_201981871insT	uc001gxg.3	+	4	3773_3774	c.581_582insT	c.(580-582)TCTfs	p.S194fs	ELF3_uc001gxi.3_Frame_Shift_Ins_p.S194fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.S194fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	194					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CCTGGCAGCTCTGACGTCTCCA	0.663		NaN											NaN	NaN	NaN	NaN	NaN	16	31	---	Valid	---	---
TSNAX	7257	broad.mit.edu	37	1	231696991	231696995	+	Frame_Shift_Del	DEL	AAAAT	AAAAT	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:231696991_231696995delAAAAT	uc001huw.2	+	5	643_647	c.485_489delAAAAT	c.(484-489)GAAAATfs	p.E162fs	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	162_163	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AATGGGAAAGAAAATAAAACTGTGA	0.273		NaN											NaN	NaN	NaN	NaN	NaN	10	33	---		---	---
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:45580365_45580367delGAT	uc001uzq.2	+	3	353_355	c.250_252delGAT	c.(250-252)GATdel	p.D88del	KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	88	Poly-Asp.									pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.286		NaN											NaN	NaN	NaN	NaN	NaN	7	329	---		---	---
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:21094331_21094333delGAA	uc002gyo.2	+	7	870_872	c.843_845delGAA	c.(841-846)GGGAAG>GGG	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						CTGCTGTGGGGAAGAAGAAGAAA	0.507		NaN											NaN	NaN	NaN	NaN	NaN	11	1646	---		---	---
CASKIN2	57513	broad.mit.edu	37	17	73498817	73498819	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:73498817_73498819delAGG	uc002joc.2	-	18	2886_2888	c.2336_2338delCCT	c.(2335-2340)TCCTAC>TAC	p.S779del	CASKIN2_uc010wsc.1_In_Frame_Del_p.S697del	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	779	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGCCAAGTAGGAGAAGGCCCA	0.695		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
IFIH1	64135	broad.mit.edu	37	2	163174805	163174806	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:163174805_163174806insCC	uc002uce.2	-	1	234_235	c.12_13insGG	c.(10-15)GGGTATfs	p.G4fs	IFIH1_uc002ucf.2_Frame_Shift_Ins_p.G4fs	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	4_5					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TCTGTGGAATACCCATTCGACA	0.53		NaN											NaN	NaN	NaN	NaN	NaN	22	62	---		---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841112	27841114	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:27841112_27841114delAAG	uc003njz.2	-	1	176_178	c.175_177delCTT	c.(175-177)CTTdel	p.L59del	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	59					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2						AAAACACTTTAAGAACTCCGCGT	0.552		NaN											NaN	NaN	NaN	NaN	NaN	12	41	---		---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:138715799_138715800insT	uc004cgr.3	-	10	1396_1397	c.1396_1397insA	c.(1396-1398)ACCfs	p.T466fs	CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	466						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.337		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SPAG17	200162	broad.mit.edu	37	1	118640369	118640379	+	Frame_Shift_Del	DEL	AGATTTGTTTC	AGATTTGTTTC	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:118640369_118640379delAGATTTGTTTC	uc001ehk.2	-	7	993_1003	c.925_935delGAAACAAATCT	c.(925-936)GAAACAAATCTCfs	p.E309fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309_312						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AACATCAAAGAGATTTGTTTCAGGTTTCTCA	0.374		NaN											NaN	NaN	NaN	NaN	NaN	17	37	---		---	---
ZCCHC8	55596	broad.mit.edu	37	12	122958340	122958340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122958340delC	uc001ucn.2	-	14	1959	c.1828delG	c.(1828-1830)GAAfs	p.E610fs	ZCCHC8_uc001ucl.2_Frame_Shift_Del_p.E221fs|ZCCHC8_uc001ucm.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxp.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxq.2_Frame_Shift_Del_p.E372fs	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	610						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTGCTTTTTCCTTCTGACAA	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	262	---		---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473589	43473589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:43473589delG	uc002iix.2	-	14	1661	c.1212delC	c.(1210-1212)CGCfs	p.R404fs	ARHGAP27_uc010dak.2_Frame_Shift_Del_p.R377fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	745	Rho-GAP.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CCACCTTATAGCGTAGCTTCT	0.647		NaN											NaN	NaN	NaN	NaN	NaN	32	57	---		---	---
TSSC1	7260	broad.mit.edu	37	2	3197914	3197915	+	In_Frame_Ins	INS	-	-	CAT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:3197914_3197915insCAT	uc002qxj.2	-	7	869_870	c.676_677insATG	c.(676-678)GCC>GATGCC	p.225_226insD	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	225_226	WD 3.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTGTCCGTGGGCATTCTCTATG	0.515		NaN											NaN	NaN	NaN	NaN	NaN	35	96	---		---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:98427639delT	uc002syh.3	-	18	2149	c.1920delA	c.(1918-1920)AAAfs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	640						integral to membrane				ovary(4)|central_nervous_system(2)	6						TCCCCTCTAATTTTTTTGCAG	0.393		NaN											NaN	NaN	NaN	NaN	NaN	8	261	---		---	---
VGLL4	9686	broad.mit.edu	37	3	11744444	11744444	+	Splice_Site	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:11744444delC	uc003bwf.2	-	2	430	c.64_splice	c.e2+1	p.R22_splice	VGLL4_uc003bwg.2_Splice_Site	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCCTCACTTACGTTTTTCGTC	0.418		NaN											NaN	NaN	NaN	NaN	NaN	13	16	---		---	---
HOXA1	3198	broad.mit.edu	37	7	27135004	27135010	+	Frame_Shift_Del	DEL	ATACGTA	ATACGTA	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:27135004_27135010delATACGTA	uc003sye.2	-	1	616_622	c.522_528delTACGTAT	c.(520-528)GCTACGTATfs	p.A174fs	HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	174_176						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						AGGAGTTATTATACGTAGCCAGGGCCA	0.58		NaN											NaN	NaN	NaN	NaN	NaN	51	129	---		---	---
TXNIP	10628	broad.mit.edu	37	1	145441053	145441054	+	Splice_Site	INS	-	-	GT			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			-	GT	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:145441053_145441054insGT	uc001enn.3	+	7	1481	c.1140_splice	c.e7+1	p.E380_splice	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Splice_Site_p.E325_splice	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein						cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTATACTGAGGTGAGGATTGT	0.416		NaN											NaN	NaN	NaN	NaN	NaN	12	238	---	Valid	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161021110	161021121	+	In_Frame_Del	DEL	GGCCAGGGCCAA	GGCCAGGGCCAA	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr1:161021110_161021121delGGCCAGGGCCAA	uc001fxl.2	-	10	1749_1760	c.1403_1414delTTGGCCCTGGCC	c.(1402-1416)CTTGGCCCTGGCCCC>CCC	p.LGPG468del	ARHGAP30_uc001fxk.2_In_Frame_Del_p.LGPG468del|ARHGAP30_uc001fxm.2_In_Frame_Del_p.LGPG314del|ARHGAP30_uc009wtx.2_In_Frame_Del_p.LGPG141del|ARHGAP30_uc001fxn.1_In_Frame_Del_p.LGPG314del	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	468_471					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCACCTGGGgggccagggccaaggccagggcc	0.434		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
TOPBP1	11073	broad.mit.edu	37	3	133341981	133341982	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr3:133341981_133341982delTT	uc003eps.2	-	19	3263_3264	c.3131_3132delAA	c.(3130-3132)AAAfs	p.K1044fs	TOPBP1_uc003ept.1_Frame_Shift_Del_p.K48fs	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1044					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						GTGCTGACTCTTTATTATTGGT	0.287		NaN						Other_conserved_DNA_damage_response_genes					NaN	NaN	NaN	NaN	NaN	13	23	---		---	---
C9orf150	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs139315731	by1000genomes	TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.2	+	1	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	58_59	Gly-rich.										0				GBM - Glioblastoma multiforme(1;1.64e-13)		gcggtggtggtggcggcggcgg	0.505		NaN											NaN	NaN	NaN	NaN	NaN	8	5	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44820575	44820575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20T-01A-11D-A14W-08	TCGA-BT-A20T-11A-11D-A14W-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	301d6ce3-4099-4c1d-8e50-c04b7ce91450	e0fccaf5-925a-41f9-b87c-cd5ee4aecb59	g.chrX:44820575delT	uc004dge.3	+	3	647	c.272delT	c.(271-273)GTGfs	p.V91fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.V91fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.V91fs|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	91					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GAAGGAAAAGTGGAGTCTGAT	0.289		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	21	12	---	Valid	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr1:120612003_120612004delGG	uc001eik.2	-	1	273_274	c.17_18delCC	c.(16-18)CCCfs	p.P6fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.663		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
TP63	8626	broad.mit.edu	37	3	189526295	189526303	+	In_Frame_Del	DEL	GCCAAGTCG	GCCAAGTCG	-			TCGA-BT-A20U-01A-11D-A14W-08	TCGA-BT-A20U-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4576527b-b288-4f50-a9ea-5d5dede22561	a8e1dcc1-649d-442a-8663-0ea8ab1ef407	g.chr3:189526295_189526303delGCCAAGTCG	uc003fry.2	+	4	648_656	c.559_567delGCCAAGTCG	c.(559-567)GCCAAGTCGdel	p.AKS187del	TP63_uc003frx.2_In_Frame_Del_p.AKS187del|TP63_uc003frz.2_In_Frame_Del_p.AKS187del|TP63_uc010hzc.1_In_Frame_Del_p.AKS187del|TP63_uc003fsa.2_In_Frame_Del_p.AKS93del|TP63_uc003fsb.2_In_Frame_Del_p.AKS93del|TP63_uc003fsc.2_In_Frame_Del_p.AKS93del|TP63_uc003fsd.2_In_Frame_Del_p.AKS93del|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_In_Frame_Del_p.AKS68del	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	187_189					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTCGAGCACCGCCAAGTCGGCCACCTGGA	0.622		NaN							Hay-Wells_syndrome	HNSCC(45;0.13)			NaN	NaN	NaN	NaN	NaN	9	45	---		---	---
TMEM184B	25829	broad.mit.edu	37	22	38626692	38626692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:38626692delG	uc003avf.1	-	5	732	c.508delC	c.(508-510)CTGfs	p.L170fs	TMEM184B_uc003avg.1_Frame_Shift_Del_p.L170fs|TMEM184B_uc003avh.1_Frame_Shift_Del_p.L104fs|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	170						integral to membrane					0	Melanoma(58;0.045)					CAGAACCTCAGAAATCCGATG	0.607		NaN											NaN	NaN	NaN	NaN	NaN	7	13	---		---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:12046124_12046126delAGC	uc003bwm.2	+	1	263_265	c.99_101delAGC	c.(97-102)CAACCG>CAG	p.P40del	SYN2_uc003bwl.1_In_Frame_Del_p.P40del	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	40					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AGCCCCAGCAAGCGCCGAcgccg	0.345		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
AKAP9	10142	broad.mit.edu	37	7	91726612	91726613	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:91726612_91726613insA	uc003ulg.2	+	41	10564_10565	c.10339_10340insA	c.(10339-10341)GAAfs	p.E3447fs	AKAP9_uc003ulf.2_Frame_Shift_Ins_p.E3439fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.E3070fs|AKAP9_uc003ulj.2_Frame_Shift_Ins_p.E1217fs|AKAP9_uc003ull.2_Frame_Shift_Ins_p.E343fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3451	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGAAGCAAGAACTAGAACGA	0.376		NaN	T	BRAF	papillary thyroid								NaN	NaN	NaN	NaN	NaN	19	23	---		---	---
INSRR	3645	broad.mit.edu	37	1	156818798	156818798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:156818798delC	uc010pht.1	-	7	1740	c.1486delG	c.(1486-1488)GCAfs	p.A496fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	496	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGCGGTCTGCCTCCGTCACG	0.637		NaN											NaN	NaN	NaN	NaN	NaN	22	26	---		---	---
CCNY	219771	broad.mit.edu	37	10	35842099	35842100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:35842099_35842100delCA	uc001iyw.3	+	8	912_913	c.732_733delCA	c.(730-735)ATCACGfs	p.I244fs	CCNY_uc001iyu.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyv.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyx.3_Frame_Shift_Del_p.I190fs|CCNY_uc009xmb.2_Frame_Shift_Del_p.I219fs|CCNY_uc010qet.1_Frame_Shift_Del_p.I111fs	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	244_245	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding				0						TGAAAGACATCACGGTGGAGGA	0.515		NaN											NaN	NaN	NaN	NaN	NaN	23	58	---		---	---
P4HA1	5033	broad.mit.edu	37	10	74813169	74813169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:74813169delC	uc010qka.1	-	7	977	c.643delG	c.(643-645)GTAfs	p.V215fs	P4HA1_uc001jtg.2_Frame_Shift_Del_p.V215fs|P4HA1_uc001jth.2_Frame_Shift_Del_p.V215fs|P4HA1_uc010qkb.1_Frame_Shift_Del_p.V215fs|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	215	TPR.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGATATACCGCATAGCTC	0.413		NaN											NaN	NaN	NaN	NaN	NaN	14	68	---		---	---
MLL	4297	broad.mit.edu	37	11	118359411	118359411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:118359411delA	uc001pta.2	+	11	4438	c.4415delA	c.(4414-4416)GAAfs	p.E1472fs	MLL_uc001ptb.2_Frame_Shift_Del_p.E1472fs|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1472	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACCAGCTGGAAAATTGGTGT	0.418		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								NaN	NaN	NaN	NaN	NaN	24	28	---	Valid	---	---
NTS	4922	broad.mit.edu	37	12	86276100	86276112	+	Frame_Shift_Del	DEL	GAGAATAAACCCA	GAGAATAAACCCA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:86276100_86276112delGAGAATAAACCCA	uc001tag.2	+	4	567_579	c.460_472delGAGAATAAACCCA	c.(460-474)GAGAATAAACCCAGAfs	p.E154fs		NM_006183	NP_006174	P30990	NEUT_HUMAN	neurotensin/neuromedin N preproprotein	154_158					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity				0						GCAGCTGTATGAGAATAAACCCAGAAGACCCTA	0.31		NaN											NaN	NaN	NaN	NaN	NaN	10	86	---		---	---
EFCAB5	374786	broad.mit.edu	37	17	28384744	28384759	+	Frame_Shift_Del	DEL	AGAACTGCCTTCAATG	AGAACTGCCTTCAATG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:28384744_28384759delAGAACTGCCTTCAATG	uc002het.2	+	13	2608_2623	c.2416_2431delAGAACTGCCTTCAATG	c.(2416-2433)AGAACTGCCTTCAATGGAfs	p.R806fs	EFCAB5_uc010wbj.1_Frame_Shift_Del_p.R750fs|EFCAB5_uc010wbk.1_Frame_Shift_Del_p.R463fs|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Intron|EFCAB5_uc010csf.2_Frame_Shift_Del_p.R685fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	806_811							calcium ion binding			ovary(1)|skin(1)	2						GGTAAAAGGCAGAACTGCCTTCAATGGAGTTTCATT	0.403		NaN											NaN	NaN	NaN	NaN	NaN	10	58	---		---	---
SOCS7	30837	broad.mit.edu	37	17	36551570	36551570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:36551570delC	uc002hqa.2	+	8	1621	c.1498delC	c.(1498-1500)CCAfs	p.P500fs	SOCS7_uc010cvl.2_Frame_Shift_Del_p.P466fs|SOCS7_uc002hqb.2_Intron	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	500	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					AGGACTGCCACCAACTCCTGT	0.468		NaN											NaN	NaN	NaN	NaN	NaN	13	31	---		---	---
ITGA2B	3674	broad.mit.edu	37	17	42462950	42462957	+	Frame_Shift_Del	DEL	GGTGTTCC	GGTGTTCC	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42462950_42462957delGGTGTTCC	uc002igt.1	-	4	568_575	c.536_543delGGAACACC	c.(535-543)GGGAACACCfs	p.G179fs		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	179_181	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCGGCTCAGGGTGTTCCCGCGACAGGG	0.635		NaN											NaN	NaN	NaN	NaN	NaN	7	8	---		---	---
SYDE1	85360	broad.mit.edu	37	19	15223296	15223296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15223296delC	uc002nah.1	+	7	1749	c.1718delC	c.(1717-1719)GCCfs	p.A573fs	SYDE1_uc002nai.1_Frame_Shift_Del_p.A506fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.A230fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	573	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						AGGCCTCGTGCCCGCAGCTCC	0.647		NaN											NaN	NaN	NaN	NaN	NaN	12	14	---		---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41808719	41808745	+	In_Frame_Del	DEL	GGTGGTGGTGGCTTCCGGGGCCGCGGG	GGTGGTGGTGGCTTCCGGGGCCGCGGG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	uc002oqb.3	+	12	2126_2152	c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	c.(1837-1863)GGTGGTGGTGGCTTCCGGGGCCGCGGGdel	p.GGGGFRGRG613del	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc002oqa.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehm.2_In_Frame_Del_p.GGGGFRGRG613del|HNRNPUL1_uc002oqc.3_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehn.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010eho.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010xvy.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehp.2_In_Frame_Del_p.GGGGFRGRG469del|HNRNPUL1_uc002oqf.3_In_Frame_Del_p.GGGGFRGRG137del	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	613_621	Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-2.|5 X 3 AA repeats of R-G-G.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						TGACAACCGAGGTGGTGGTGGCTTCCGGGGCCGCGGGGGTGGTGGTG	0.652		NaN											NaN	NaN	NaN	NaN	NaN	10	47	---		---	---
ZNF513	130557	broad.mit.edu	37	2	27601758	27601758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27601758delC	uc002rkk.2	-	3	575	c.375delG	c.(373-375)GGGfs	p.G125fs	ZNF513_uc002rkj.2_Frame_Shift_Del_p.G63fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	125	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCGGCCCCCCACACA	0.706		NaN											NaN	NaN	NaN	NaN	NaN	6	9	---		---	---
COL6A3	1293	broad.mit.edu	37	2	238277474	238277475	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:238277474_238277475delCA	uc002vwl.2	-	10	4916_4917	c.4631_4632delTG	c.(4630-4632)CTGfs	p.L1544fs	COL6A3_uc002vwo.2_Frame_Shift_Del_p.L1338fs|COL6A3_uc010znj.1_Frame_Shift_Del_p.L937fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1544	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCAGGACCAGGTGTTGGGG	0.569		NaN											NaN	NaN	NaN	NaN	NaN	23	125	---		---	---
C22orf28	51493	broad.mit.edu	37	22	32797844	32797858	+	In_Frame_Del	DEL	GGTTCTTAGCAAGCG	GGTTCTTAGCAAGCG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:32797844_32797858delGGTTCTTAGCAAGCG	uc003amm.2	-	5	504_518	c.373_387delCGCTTGCTAAGAACC	c.(373-387)CGCTTGCTAAGAACCdel	p.RLLRT125del	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	125_129					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						CATCTAAATTGGTTCTTAGCAAGCGGACACCACAG	0.465		NaN											NaN	NaN	NaN	NaN	NaN	10	36	---		---	---
PLXNB2	23654	broad.mit.edu	37	22	50719219	50719220	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50719219_50719220insG	uc003bkv.3	-	24	4052_4053	c.3946_3947insC	c.(3946-3948)CTCfs	p.L1316fs	PLXNB2_uc003bkt.1_Frame_Shift_Ins_p.L108fs|PLXNB2_uc003bku.1_Frame_Shift_Ins_p.L301fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1316	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGTAGAGGGCCTGCTCC	0.653		NaN											NaN	NaN	NaN	NaN	NaN	9	36	---		---	---
ULK4	54986	broad.mit.edu	37	3	41860995	41860995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41860995delC	uc003ckv.3	-	19	1969	c.1768delG	c.(1768-1770)GAAfs	p.E590fs	ULK4_uc003ckw.2_Frame_Shift_Del_p.E590fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	590							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTTTTTTTTCTTCCTAAAAT	0.438		NaN											NaN	NaN	NaN	NaN	NaN	24	82	---		---	---
MINA	84864	broad.mit.edu	37	3	97686358	97686359	+	In_Frame_Ins	INS	-	-	CTGCTT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:97686358_97686359insCTGCTT	uc003drz.1	-	2	585_586	c.79_80insAAGCAG	c.(79-81)GCT>GAAGCAGCT	p.26_27insEA	MINA_uc003dsa.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsb.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsc.1_In_Frame_Ins_p.26_27insEA|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	26_27					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						AGGCCCCCCAGCTGCTTCTAAC	0.48		NaN											NaN	NaN	NaN	NaN	NaN	9	73	---		---	---
NFE2L3	9603	broad.mit.edu	37	7	26223328	26223340	+	Frame_Shift_Del	DEL	TGAATGGGACAGA	TGAATGGGACAGA	-	rs150480522		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:26223328_26223340delTGAATGGGACAGA	uc003sxq.2	+	3	1030_1042	c.758_770delTGAATGGGACAGA	c.(757-771)CTGAATGGGACAGATfs	p.L253fs		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	253_257					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						CAGAGACATCTGAATGGGACAGATACTTCTTTC	0.394		NaN											NaN	NaN	NaN	NaN	NaN	11	69	---		---	---
SFRP4	6424	broad.mit.edu	37	7	37947153	37947153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:37947153delG	uc003tfo.3	-	6	1355	c.969delC	c.(967-969)CCCfs	p.P323fs		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	323					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TGGCTGGTTTGGGAGCAGGAG	0.512		NaN											NaN	NaN	NaN	NaN	NaN	45	121	---		---	---
USP9X	8239	broad.mit.edu	37	X	41047370	41047371	+	Splice_Site	INS	-	-	GT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:41047370_41047371insGT	uc004dfb.2	+	25	4443	c.3810_splice	c.e25+1	p.K1270_splice	USP9X_uc004dfc.2_Splice_Site_p.K1270_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TTTATGAGAAGGTAAGAATTAT	0.297		NaN											NaN	NaN	NaN	NaN	NaN	19	15	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27057789	27057790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:27057789_27057790insT	uc001bmv.1	+	3	1870_1871	c.1497_1498insT	c.(1495-1500)TCGTATfs	p.S499fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S116fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	499_500					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAACCTTCGTATCAGCAGCA	0.604		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	240	357	---	Valid	---	---
C10orf71	118461	broad.mit.edu	37	10	50534970	50534971	+	Frame_Shift_Del	DEL	AC	AC	-	rs72337199		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:50534970_50534971delAC	uc010qgp.1	+	4	2408_2409	c.2069_2070delAC	c.(2068-2070)AACfs	p.N690fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	690											0						AAAACAAGCAacacacacacac	0.406		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:281553_281555delGAG	uc010qvs.1	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)GAGdel	p.E611del	NLRP6_uc010qvt.1_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67		NaN											NaN	NaN	NaN	NaN	NaN	7	187	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38061857	38061858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:38061857_38061858insA	uc001wuf.2	-	2	443_444	c.131_132insT	c.(130-132)ATGfs	p.M44fs	FOXA1_uc010tpz.1_Frame_Shift_Ins_p.M11fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	44					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGTAGGTGTTCATGGAGTTCAT	0.614		NaN											NaN	NaN	NaN	NaN	NaN	18	96	---	Valid	---	---
FAM104A	84923	broad.mit.edu	37	17	71223344	71223346	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:71223344_71223346delCTT	uc002jji.3	-	2	367_369	c.279_281delAAG	c.(277-282)AGAAGT>AGT	p.R93del	FAM104A_uc002jjj.3_In_Frame_Del_p.R93del	NM_032837	NP_116226	Q969W3	F104A_HUMAN	hypothetical protein LOC84923 isoform 2	93											0			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTGCTACTTCTTTTGGTCT	0.409		NaN											NaN	NaN	NaN	NaN	NaN	7	66	---		---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:40900180_40900182delTCC	uc002onr.2	-	7	4346_4348	c.4077_4079delGGA	c.(4075-4080)GAGGAA>GAA	p.1359_1360EE>E	PRX_uc002onq.2_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1359_1360	Poly-Glu.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.606		NaN											NaN	NaN	NaN	NaN	NaN	7	91	---		---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388156	46388157	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:46388156_46388157insCA	uc002pds.1	-	1	1220_1221	c.876_877insTG	c.(874-879)GTGGCTfs	p.V292fs		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	292_293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ATCTGGCGAGCCACTGCCAGGA	0.594		NaN											NaN	NaN	NaN	NaN	NaN	9	126	---		---	---
ZNF341	84905	broad.mit.edu	37	20	32371588	32371589	+	Frame_Shift_Ins	INS	-	-	G	rs139829835		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:32371588_32371589insG	uc002wzy.2	+	12	1790_1791	c.1770_1771insG	c.(1768-1773)AGCGGGfs	p.S590fs	ZNF341_uc002wzx.2_Frame_Shift_Ins_p.S583fs|ZNF341_uc010geq.2_Frame_Shift_Ins_p.S500fs|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	590_591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCCACGGCAGCGGGGGCAGGTT	0.614		NaN											NaN	NaN	NaN	NaN	NaN	11	163	---		---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:129546680_129546682delGCA	uc003emz.3	-	4	1041_1043	c.540_542delTGC	c.(538-543)GCTGCA>GCA	p.180_181AA>A	TMCC1_uc010htg.2_In_Frame_Del_p.66_67AA>A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180_181						integral to membrane				skin(1)	1						TGGTAGACATgcagcagcagcag	0.404		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
PLEKHG4B	153478	broad.mit.edu	37	5	162962	162962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:162962delG	uc003jak.2	+	11	1757	c.1707delG	c.(1705-1707)GTGfs	p.V569fs		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	569					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCAGGTGTGGCAGTGCTGA	0.647		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
E2F3	1871	broad.mit.edu	37	6	20402595	20402597	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:20402595_20402597delCGC	uc003nda.2	+	1	459_461	c.132_134delCGC	c.(130-135)TTCGCC>TTC	p.A53del	E2F3_uc003ncz.2_In_Frame_Del_p.A53del	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	53	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccgcc	0.591		NaN											NaN	NaN	NaN	NaN	NaN	19	692	---		---	---
VGF	7425	broad.mit.edu	37	7	100807026	100807028	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100807026_100807028delCCT	uc003uxx.3	-	2	1315_1317	c.1097_1099delAGG	c.(1096-1101)GAGGCG>GCG	p.E366del		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	366	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tcctgctccgcctcctcctcctc	0.369		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44833924	44833924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:44833924delC	uc004dge.3	+	4	723	c.348delC	c.(346-348)TACfs	p.Y116fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	116	TPR 1.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TATCTGCATACCAGAGGTACT	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	23	21	---	Valid	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108788635_108788637delTGA	uc001pkm.2	+	17	2405_2407	c.2340_2342delTGA	c.(2338-2343)AGTGAT>AGT	p.D788del	DDX10_uc001pkl.1_In_Frame_Del_p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.31		NaN	T	NUP98	AML*								NaN	NaN	NaN	NaN	NaN	7	45	---		---	---
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	ATG	-	rs141326765		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:70924869_70924871delATG	uc001xmd.2	+	1	653_655	c.653_655delATG	c.(652-657)CATGAT>CAT	p.D219del		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	219	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414		NaN											NaN	NaN	NaN	NaN	NaN	7	177	---		---	---
MSL1	339287	broad.mit.edu	37	17	38289813	38289822	+	Frame_Shift_Del	DEL	AAAGAATTTT	AAAGAATTTT	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:38289813_38289822delAAAGAATTTT	uc002hub.2	+	7	999_1008	c.980_989delAAAGAATTTT	c.(979-990)CAAAGAATTTTAfs	p.Q327fs	MSL1_uc002hua.3_Frame_Shift_Del_p.Q265fs|MSL1_uc002hud.2_Frame_Shift_Del_p.Q67fs	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	528_531					histone H4-K16 acetylation	MSL complex					0						ATCAGGGAACAAAGAATTTTACAGCGACTG	0.39		NaN											NaN	NaN	NaN	NaN	NaN	9	3	---		---	---
SCRN2	90507	broad.mit.edu	37	17	45915767	45915767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:45915767delG	uc002imd.2	-	7	1114	c.988delC	c.(988-990)CAGfs	p.Q330fs	SCRN2_uc002imc.2_Frame_Shift_Del_p.Q338fs|SCRN2_uc002imf.2_Frame_Shift_Del_p.Q330fs|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	330					proteolysis		dipeptidase activity			ovary(1)	1						GACAGCACCTGGGGGGCCTGG	0.577		NaN											NaN	NaN	NaN	NaN	NaN	245	59	---		---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:57013193_57013194insT	uc002lhz.2	-	8	944_945	c.912_913insA	c.(910-915)AAAGAGfs	p.K304fs		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	304_305	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455		NaN											NaN	NaN	NaN	NaN	NaN	7	134	---		---	---
ZNF615	284370	broad.mit.edu	37	19	52505446	52505447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52505446_52505447insC	uc002pye.1	-	4	395_396	c.103_104insG	c.(103-105)GACfs	p.D35fs	ZNF615_uc002pyf.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc010epi.1_Frame_Shift_Ins_p.D31fs|ZNF615_uc010ydg.1_Frame_Shift_Ins_p.D40fs	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAACATCACGTCCCGGTACAGG	0.564		NaN											NaN	NaN	NaN	NaN	NaN	204	180	---		---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:29295647_29295649delTCC	uc002rmt.1	-	1	1479_1481	c.1479_1481delGGA	c.(1477-1482)GAGGAA>GAA	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	493_494					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						CATTTTGTCTTCCTCCTCCTCCT	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	265	---		---	---
KDM3A	55818	broad.mit.edu	37	2	86693893	86693894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86693893_86693894insA	uc002sri.3	+	10	1733_1734	c.1406_1407insA	c.(1405-1407)GGAfs	p.G469fs	KDM3A_uc010ytj.1_Frame_Shift_Ins_p.G469fs|KDM3A_uc010ytk.1_Frame_Shift_Ins_p.G417fs	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	469					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						AACTGTTCAGGAAAAAAGGTAG	0.401		NaN											NaN	NaN	NaN	NaN	NaN	41	87	---		---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:32571050delT	uc003cfb.3	-	11	1376	c.1288delA	c.(1288-1290)ATTfs	p.I430fs	DYNC1LI1_uc011axh.1_Frame_Shift_Del_p.I314fs	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	430					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						TTTGGATCAATTTTTTTTGAC	0.398		NaN											NaN	NaN	NaN	NaN	NaN	8	78	---		---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:124079813_124079815delCTC	uc003ktq.1	-	1	991_993	c.868_870delGAG	c.(868-870)GAGdel	p.E290del	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290	Potential.					intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522		NaN											NaN	NaN	NaN	NaN	NaN	11	339	---		---	---
BAT5	7920	broad.mit.edu	37	6	31660894	31660894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31660894delC	uc003nvy.1	-	7	566	c.536delG	c.(535-537)GGTfs	p.G179fs	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Frame_Shift_Del_p.G146fs|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Frame_Shift_Del_p.V81fs	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	179						integral to membrane	hydrolase activity|protein binding				0						CAGGGCCACACCCCGGCGGGA	0.622		NaN											NaN	NaN	NaN	NaN	NaN	24	66	---		---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:107977802_107977803insC	uc004eoc.2	-	1	1805_1806	c.1772_1773insG	c.(1771-1773)GGCfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGAGCCTTTGCCCCCCCCAGA	0.545		NaN											NaN	NaN	NaN	NaN	NaN	8	409	---		---	---
RRAGC	64121	broad.mit.edu	37	1	39325198	39325200	+	In_Frame_Del	DEL	CCG	CCG	-	rs113599946		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:39325198_39325200delCCG	uc001ccq.2	-	1	141_143	c.119_121delCGG	c.(118-123)GCGGGC>GGC	p.A40del	RRAGC_uc010oim.1_In_Frame_Del_p.A40del|RRAGC_uc001ccr.2_Intron	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	40					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				acccctccgcccgccgccgccgc	0.468		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	8	1288_1290	c.901_903delCAG	c.(901-903)CAGdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.512		NaN											NaN	NaN	NaN	NaN	NaN	8	273	---		---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406489	75406493	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:75406489_75406493delGCCCC	uc001jut.3	-	4	3069_3073	c.2917_2921delGGGGC	c.(2917-2922)GGGGCAfs	p.G973fs	SYNPO2L_uc001jus.3_Frame_Shift_Del_p.G749fs	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	973_974						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CTGGTGCCCTGCCCCAGGCCTCCAC	0.595		NaN											NaN	NaN	NaN	NaN	NaN	35	169	---		---	---
ARHGAP20	57569	broad.mit.edu	37	11	110582896	110582897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:110582896_110582897insA	uc001pkz.1	-	2	343_344	c.58_59insT	c.(58-60)TCCfs	p.S20fs	ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	20					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTGTCAGGGAAGAGGAGCGC	0.48		NaN											NaN	NaN	NaN	NaN	NaN	19	34	---		---	---
KLRD1	3824	broad.mit.edu	37	12	10464092	10464100	+	In_Frame_Del	DEL	TGGGTTGGG	TGGGTTGGG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:10464092_10464100delTGGGTTGGG	uc001qxw.3	+	5	390_398	c.193_201delTGGGTTGGG	c.(193-201)TGGGTTGGGdel	p.WVG65del	KLRD1_uc001qxx.3_In_Frame_Del_p.WVG65del|KLRD1_uc001qxy.3_In_Frame_Del_p.WVG34del|KLRD1_uc009zhh.2_In_Frame_Del_p.WVG44del|KLRD1_uc009zhi.2_In_Frame_Del_p.WVG65del|KLRD1_uc001qxz.3_In_Frame_Del_p.WVG65del	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	65_67	Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						CCAAGAAAAATGGGTTGGGTACCGGTGCA	0.402		NaN											NaN	NaN	NaN	NaN	NaN	15	101	---		---	---
CAND1	55832	broad.mit.edu	37	12	67696105	67696119	+	In_Frame_Del	DEL	AGTGATGATGAATAC	AGTGATGATGAATAC	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:67696105_67696119delAGTGATGATGAATAC	uc001stn.2	+	8	1440_1454	c.1003_1017delAGTGATGATGAATAC	c.(1003-1017)AGTGATGATGAATACdel	p.SDDEY335del	CAND1_uc001sto.2_In_Frame_Del_p.SDDEY13del	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	335_339	Asp-rich.|HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCTTAGGGAGTGATGATGAATACAGTGATGATG	0.358		NaN											NaN	NaN	NaN	NaN	NaN	10	179	---		---	---
RB1	5925	broad.mit.edu	37	13	48937042	48937043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:48937042_48937043insA	uc001vcb.2	+	8	976_977	c.810_811insA	c.(808-813)GATACAfs	p.D270fs	RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	270_271					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.L267fs*3(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGAAAATGATACAAGAATTAT	0.342		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			NaN	NaN	NaN	NaN	NaN	40	49	---	Valid	---	---
IPO5	3843	broad.mit.edu	37	13	98652878	98652880	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:98652878_98652880delATT	uc001vnf.1	+	10	1152_1154	c.1087_1089delATT	c.(1087-1089)ATTdel	p.I363del	IPO5_uc001vne.2_In_Frame_Del_p.I381del|IPO5_uc010tik.1_In_Frame_Del_p.I238del|IPO5_uc010til.1_In_Frame_Del_p.I303del|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	363	Ran-GTP binding (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						CAAGGAACACATTATGCAAATGC	0.414		NaN											NaN	NaN	NaN	NaN	NaN	36	97	---		---	---
NIN	51199	broad.mit.edu	37	14	51237206	51237208	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:51237206_51237208delAGG	uc001wym.2	-	12	1523_1525	c.1332_1334delCCT	c.(1330-1335)ATCCTG>ATG	p.444_445IL>M	NIN_uc001wyi.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_In_Frame_Del_p.444_445IL>M|NIN_uc010tqp.1_In_Frame_Del_p.450_451IL>M|NIN_uc001wyo.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyp.1_In_Frame_Del_p.406_407IL>M	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	444_445	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCCTGCTGCAGGATCTGCTCTC	0.448		NaN	T	PDGFRB	MPD								NaN	NaN	NaN	NaN	NaN	14	55	---		---	---
TAOK2	9344	broad.mit.edu	37	16	29994974	29994988	+	Splice_Site	DEL	ACCGCCTCCCTGGTG	ACCGCCTCCCTGGTG	-	rs61737875		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:29994974_29994988delACCGCCTCCCTGGTG	uc002dva.1	+	13	2205	c.1422_splice	c.e13+1	p.L474_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Splice_Site_p.L474_splice|TAOK2_uc002dvc.1_Splice_Site_p.L474_splice|TAOK2_uc010bzm.1_Splice_Site_p.L481_splice|TAOK2_uc002dvd.1_Splice_Site_p.L301_splice	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2						actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CACCATCCGAACCGCCTCCCTGGTGAGTGTAGCCA	0.577		NaN											NaN	NaN	NaN	NaN	NaN	44	396	---		---	---
FOXC2	2303	broad.mit.edu	37	16	86601790	86601790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:86601790delG	uc002fjq.2	+	1	934	c.849delG	c.(847-849)CCGfs	p.P283fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	283					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						CGTCGCCGCCGGGCGGAGAGC	0.677		NaN							Late-onset_Hereditary_Lymphedema				NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ENGASE	64772	broad.mit.edu	37	17	77082023	77082040	+	In_Frame_Del	DEL	CGCTGCCAGCCTGCTGGC	CGCTGCCAGCCTGCTGGC	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:77082023_77082040delCGCTGCCAGCCTGCTGGC	uc002jwv.2	+	14	1832_1849	c.1824_1841delCGCTGCCAGCCTGCTGGC	c.(1822-1842)GACGCTGCCAGCCTGCTGGCC>GAC	p.AASLLA609del	ENGASE_uc002jww.2_In_Frame_Del_p.AASLLA314del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	609_614						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						AGGTGGTGGACGCTGCCAGCCTGCTGGCCCCTCTGCCC	0.706		NaN											NaN	NaN	NaN	NaN	NaN	42	73	---		---	---
MBD1	4152	broad.mit.edu	37	18	47800628	47800639	+	In_Frame_Del	DEL	GTCGCAGCAGAA	GTCGCAGCAGAA	-	rs115570375	by1000genomes	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:47800628_47800639delGTCGCAGCAGAA	uc010dow.1	-	11	1500_1511	c.1063_1074delTTCTGCTGCGAC	c.(1063-1074)TTCTGCTGCGACdel	p.FCCD355del	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.FCCD305del|MBD1_uc010xdi.1_In_Frame_Del_p.FCCD406del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.FCCD355del|MBD1_uc002lei.3_In_Frame_Del_p.FCCD355del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.FCCD306del|MBD1_uc002lel.3_In_Frame_Del_p.FCCD332del|MBD1_uc002lem.3_In_Frame_Del_p.FCCD355del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.FCCD380del|MBD1_uc010dox.1_In_Frame_Del_p.FCCD332del|MBD1_uc002leo.2_In_Frame_Del_p.FCCD355del	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	355_358	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATTTGGGCTTGTCGCAGCAGAAGTCGCAGCGG	0.651		NaN											NaN	NaN	NaN	NaN	NaN	10	124	---		---	---
FOSL2	2355	broad.mit.edu	37	2	28635076	28635076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:28635076delC	uc002rma.2	+	4	1551	c.742delC	c.(742-744)CCCfs	p.P248fs	FOSL2_uc010ymi.1_Frame_Shift_Del_p.P209fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	248					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGTCATCAAGCCCATCAGCAT	0.652		NaN											NaN	NaN	NaN	NaN	NaN	22	65	---		---	---
CHPF	79586	broad.mit.edu	37	2	220406623	220406638	+	Frame_Shift_Del	DEL	GGTGTCAGGCACCAGG	GGTGTCAGGCACCAGG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:220406623_220406638delGGTGTCAGGCACCAGG	uc002vmc.3	-	2	815_830	c.588_603delCCTGGTGCCTGACACC	c.(586-603)TTCCTGGTGCCTGACACCfs	p.F196fs	CHPF_uc010zlh.1_Frame_Shift_Del_p.F34fs|CHPF_uc002vmd.3_Frame_Shift_Del_p.F196fs|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	196_201	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGTGTAGGTGGTGTCAGGCACCAGGAAGAACCAGT	0.681		NaN									OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	7	19	---		---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:131241030_131241035delGGCGAC	uc003vqw.3	-	1	342_347	c.84_89delGTCGCC	c.(82-90)CCGTCGCCC>CCC	p.28_30PSP>P	PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	28_30	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.573		NaN											NaN	NaN	NaN	NaN	NaN	6	2	---		---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40737578	40737587	+	Frame_Shift_Del	DEL	ATCTATGCTG	ATCTATGCTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:40737578_40737587delATCTATGCTG	uc001cfg.2	+	6	851_860	c.640_649delATCTATGCTG	c.(640-651)ATCTATGCTGATfs	p.I214fs		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	214_217						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTGTCACAATCTATGCTGATTATATTGC	0.3		NaN											NaN	NaN	NaN	NaN	NaN	11	173	---		---	---
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152127881_152127884delTGTC	uc001ezs.1	-	3	1756_1759	c.1691_1694delGACA	c.(1690-1695)AGACAAfs	p.R564fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	564_565	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GCTCTGGCCTTGTCTGTCTGTCTG	0.485		NaN											NaN	NaN	NaN	NaN	NaN	7	1314	---		---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:161254154_161254156delGGA	uc001gad.2	+	3	338_340	c.90_92delGGA	c.(88-93)GCGGAG>GCG	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35											0	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488		NaN											NaN	NaN	NaN	NaN	NaN	8	287	---		---	---
HMX3	340784	broad.mit.edu	37	10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:124895626_124895627insC	uc010quc.1	+	1	60_61	c.60_61insC	c.(58-63)CCGCCCfs	p.P20fs		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	20_21	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			AGG	-	AGG	AGG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:56558379_56558381delAGG	uc001skb.2	-	27	3380_3382	c.3274_3276delCCT	c.(3274-3276)CCTdel	p.P1092del	SMARCC2_uc001skd.2_Intron|SMARCC2_uc001ska.2_Intron|SMARCC2_uc001skc.2_Intron|SMARCC2_uc010sqf.1_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591		NaN											NaN	NaN	NaN	NaN	NaN	9	76	---	Valid	---	---
PDZD9	255762	broad.mit.edu	37	16	21995741	21995750	+	Frame_Shift_Del	DEL	TTTCTTGTCG	TTTCTTGTCG	-	rs146108684	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21995741_21995750delTTTCTTGTCG	uc002dka.1	-	5	764_773	c.447_456delCGACAAGAAA	c.(445-456)GACGACAAGAAAfs	p.D149fs		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	211_214										pancreas(1)	1						CCCTCACTTCTTTCTTGTCGTCTCTGTGAA	0.433		NaN											NaN	NaN	NaN	NaN	NaN	13	219	---		---	---
RICH2	9912	broad.mit.edu	37	17	12888211	12888211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:12888211delA	uc002gnr.3	+	20	2630	c.2303delA	c.(2302-2304)GAAfs	p.E768fs	RICH2_uc010vvk.1_Frame_Shift_Del_p.E768fs|RICH2_uc010vvl.1_Frame_Shift_Del_p.E762fs|RICH2_uc002gns.3_Frame_Shift_Del_p.E562fs|RICH2_uc010vvm.1_Frame_Shift_Del_p.E762fs|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	768					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCCCCTGGGGAAAGCATGTCT	0.537		NaN											NaN	NaN	NaN	NaN	NaN	11	58	---		---	---
KPTN	11133	broad.mit.edu	37	19	47984066	47984066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:47984066delC	uc002pgy.2	-	6	654	c.550delG	c.(550-552)GAAfs	p.E184fs	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	184					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ACGGGCTGTTCCTCAAACTGA	0.602		NaN											NaN	NaN	NaN	NaN	NaN	27	327	---		---	---
NCF4	4689	broad.mit.edu	37	22	37261076	37261080	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:37261076_37261080delAGAGC	uc003apy.3	+	3	417_421	c.233_237delAGAGC	c.(232-237)AAGAGCfs	p.K78fs	NCF4_uc003apz.3_Frame_Shift_Del_p.K78fs	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	78_79	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						CCAGACAGCAAGAGCAGTGCCCTGG	0.62		NaN											NaN	NaN	NaN	NaN	NaN	18	136	---		---	---
PBRM1	55193	broad.mit.edu	37	3	52643634	52643634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52643634delT	uc003des.2	-	16	2274	c.2262delA	c.(2260-2262)AAAfs	p.K754fs	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K722fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.K754fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K667fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.K100fs|PBRM1_uc003dfc.2_Frame_Shift_Del_p.K121fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	754					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAAGCAGGACTTTGTGTAGAA	0.418		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								NaN	NaN	NaN	NaN	NaN	8	113	---		---	---
ITIH1	3697	broad.mit.edu	37	3	52814364	52814364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52814364delC	uc003dfs.2	+	6	677	c.653delC	c.(652-654)GCCfs	p.A218fs	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	218					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAACTGGCAGCCCAAACTATC	0.527		NaN											NaN	NaN	NaN	NaN	NaN	7	41	---		---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:129370576_129370578delCTG	uc003emz.3	-	7	2209_2211	c.1708_1710delCAG	c.(1708-1710)CAGdel	p.Q570del	TMCC1_uc003emy.3_In_Frame_Del_p.Q246del|TMCC1_uc011blc.1_In_Frame_Del_p.Q391del|TMCC1_uc010htg.2_In_Frame_Del_p.Q456del	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570	Potential.					integral to membrane				skin(1)	1						GCTGCACCACCTGCTGCTGCTGC	0.581		NaN											NaN	NaN	NaN	NaN	NaN	8	164	---		---	---
MFSD8	256471	broad.mit.edu	37	4	128865042	128865060	+	Frame_Shift_Del	DEL	GTCTATAATTAGACCATAA	GTCTATAATTAGACCATAA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:128865042_128865060delGTCTATAATTAGACCATAA	uc003ifp.2	-	5	449_467	c.286_304delTTATGGTCTAATTATAGAC	c.(286-306)TTATGGTCTAATTATAGACCAfs	p.L96fs	MFSD8_uc011cgu.1_Frame_Shift_Del_p.L51fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.L96fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Frame_Shift_Del_p.L51fs	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	96_102	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA	0.402		NaN											NaN	NaN	NaN	NaN	NaN	11	109	---		---	---
TBC1D9B	23061	broad.mit.edu	37	5	179294465	179294465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:179294465delA	uc003mlh.2	-	19	2931	c.2894delT	c.(2893-2895)TTCfs	p.F965fs	TBC1D9B_uc003mli.2_Intron|TBC1D9B_uc003mlj.2_Intron|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Intron|TBC1D9B_uc011dgv.1_Intron|TBC1D9B_uc011dgw.1_Frame_Shift_Del_p.F235fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	965						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGGAAAAGATCCAG	0.597		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
ZNF318	24149	broad.mit.edu	37	6	43305708	43305708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43305708delC	uc003oux.2	-	10	6106	c.6028delG	c.(6028-6030)GAGfs	p.E2010fs	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2010					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGTAAGCTCCTCTACCTTT	0.473		NaN											NaN	NaN	NaN	NaN	NaN	8	109	---		---	---
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:87725847delC	uc003pli.2	+	2	1498	c.795delC	c.(793-795)ATCfs	p.I265fs		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	265	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCATCAGGATCCCCCCCTTCG	0.512		NaN											NaN	NaN	NaN	NaN	NaN	7	322	---		---	---
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:65493617_65493618insGGC	uc003xvi.2	+	1	804_805	c.270_271insGGC	c.(268-273)insGGC	p.97_98insG	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	97_98	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						gcgcgggaagtggcggcggcgg	0.584		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SURF6	6838	broad.mit.edu	37	9	136201230	136201234	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-	rs35975060		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136201230_136201234delGCAGG	uc004cdb.3	-	2	376_380	c.298_302delCCTGC	c.(298-303)CCTGCAfs	p.P100fs		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	100_101						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTCTCACCTGCAGGGTTCCCTGCT	0.605		NaN											NaN	NaN	NaN	NaN	NaN	7	50	---		---	---
SURF1	6834	broad.mit.edu	37	9	136220674	136220682	+	In_Frame_Del	DEL	CCTCCCGGG	CCTCCCGGG	-	rs151258319		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136220674_136220682delCCTCCCGGG	uc004cdh.1	-	5	469_477	c.437_445delCCCGGGAGG	c.(436-447)GCCCGGGAGGGC>GGC	p.ARE146del	SURF1_uc004cdg.1_In_Frame_Del_p.ARE37del|SURF2_uc004cdi.2_5'Flank	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	146_148					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGAGGCCGCCCTCCCGGGCCTCCCGGAC	0.598		NaN											NaN	NaN	NaN	NaN	NaN	33	331	---		---	---
TFE3	7030	broad.mit.edu	37	X	48887952	48887952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:48887952delC	uc004dmb.3	-	10	1683	c.1445delG	c.(1444-1446)GGAfs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Del_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CTGGGCAGGTCCCCCCCCTAC	0.647		NaN	T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								NaN	NaN	NaN	NaN	NaN	40	122	---		---	---
EPHA2	1969	broad.mit.edu	37	1	16477440	16477440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr1:16477440delG	uc001aya.1	-	2	241	c.104delC	c.(103-105)GCTfs	p.A35fs	EPHA2_uc010oca.1_Frame_Shift_Del_p.A35fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	35	Extracellular (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCAGCTGCAGCAAAGTCCAG	0.597		NaN											NaN	NaN	NaN	NaN	NaN	57	39	---		---	---
MUC5B	727897	broad.mit.edu	37	11	1276413	1276414	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr11:1276413_1276414insG	uc009ycr.1	+	58	16944_16945	c.16818_16819insG	c.(16816-16821)ACTGCCfs	p.T5606fs	MUC5B_uc001ltb.2_Frame_Shift_Ins_p.T5272fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5269_5270	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCCACTGCCAGCCCCGC	0.673		NaN											NaN	NaN	NaN	NaN	NaN	4	2	---		---	---
MLL2	8085	broad.mit.edu	37	12	49420990	49421006	+	Frame_Shift_Del	DEL	GGGGAAGGGGGCGGGGA	GGGGAAGGGGGCGGGGA	-			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr12:49420990_49421006delGGGGAAGGGGGCGGGGA	uc001rta.3	-	48	14743_14759	c.14743_14759delTCCCCGCCCCCTTCCCC	c.(14743-14760)TCCCCGCCCCCTTCCCCCfs	p.S4915fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4915_4920	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCA	0.641		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	48	52	---	Inconclusive	---	---
PRR12	57479	broad.mit.edu	37	19	50117814	50117814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42B-01A-32D-A23M-08	TCGA-BT-A42B-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	316411ea-2e0b-494a-b3a9-ce8225140e32	791afb2c-5644-4d7e-8c0b-249c53d4e64a	g.chr19:50117814delC	uc002poo.3	+	7	4798	c.4798delC	c.(4798-4800)CCCfs	p.P1600fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	779							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGGCGTGAACCCCCACCCAT	0.612		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SPEN	23013	broad.mit.edu	37	1	16260122	16260130	+	In_Frame_Del	DEL	AGCGATCCA	AGCGATCCA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16260122_16260130delAGCGATCCA	uc001axk.1	+	11	7591_7599	c.7387_7395delAGCGATCCA	c.(7387-7395)AGCGATCCAdel	p.SDP2463del	SPEN_uc010obp.1_In_Frame_Del_p.SDP2422del	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2463_2465	RID.|Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GACCCCACCCAGCGATCCAAGCATCCCCA	0.603		NaN											NaN	NaN	NaN	NaN	NaN	12	117	---		---	---
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64888248_64888250delTCT	uc001ocx.2	-	5	412_414	c.305_307delAGA	c.(304-309)AAGACA>ACA	p.K102del	FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	ubiquitin-like protein fubi and ribosomal	Error:Variant_position_missing_in_P35544_after_alignment											0						GCCCGACCTGTCTTCTTCTTCTT	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	282	---		---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:122812690_122812691insT	uc001ucg.1	-	16	3158_3159	c.3052_3053insA	c.(3052-3054)AGCfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1018	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505		NaN											NaN	NaN	NaN	NaN	NaN	20	389	---		---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20296055_20296056insT	uc010tkv.1	+	1	448_449	c.448_449insT	c.(448-450)CTTfs	p.L150fs		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53		NaN											NaN	NaN	NaN	NaN	NaN	57	347	---		---	---
SLC10A1	6554	broad.mit.edu	37	14	70252841	70252841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:70252841delC	uc001xlr.2	-	2	674	c.540delG	c.(538-540)CGGfs	p.R180fs		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	180					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TGTATTGTGGCCGTTTGGATT	0.438		NaN											NaN	NaN	NaN	NaN	NaN	36	116	---		---	---
RPL23	9349	broad.mit.edu	37	17	37008873	37008892	+	Frame_Shift_Del	DEL	TGGTTTGCCTTTCTTGACTG	TGGTTTGCCTTTCTTGACTG	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37008873_37008892delTGGTTTGCCTTTCTTGACTG	uc002hqx.1	-	3	281_300	c.191_210delCAGTCAAGAAAGGCAAACCA	c.(190-210)ACAGTCAAGAAAGGCAAACCAfs	p.T64fs	RPL23_uc002hqw.1_Frame_Shift_Del_p.T5fs|RPL23_uc002hqy.1_Frame_Shift_Del_p.T64fs	NM_000978	NP_000969	P62829	RL23_HUMAN	ribosomal protein L23	64_70					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome				0						TTCTGAGCTCTGGTTTGCCTTTCTTGACTGTGGCCATCAC	0.482		NaN											NaN	NaN	NaN	NaN	NaN	11	133	---		---	---
NBR1	4077	broad.mit.edu	37	17	41352619	41352619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41352619delT	uc010czd.2	+	17	2602	c.2462delT	c.(2461-2463)CTGfs	p.L821fs	NBR1_uc010diz.2_Frame_Shift_Del_p.L821fs|NBR1_uc010whu.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whv.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whw.1_Frame_Shift_Del_p.L800fs	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	821					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCACCGTCACTGCCCAGGTAC	0.517		NaN											NaN	NaN	NaN	NaN	NaN	41	94	---		---	---
GNA13	10672	broad.mit.edu	37	17	63010685	63010696	+	In_Frame_Del	DEL	ATTGTTTCAAAA	ATTGTTTCAAAA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:63010685_63010696delATTGTTTCAAAA	uc002jfc.2	-	4	1022_1033	c.813_824delTTTTGAAACAAT	c.(811-825)ATTTTTGAAACAATC>ATC	p.271_275IFETI>I	GNA13_uc010wqh.1_In_Frame_Del_p.176_180IFETI>I	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	271_275					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GTTATTGACGATTGTTTCAAAAATGTTCAGAG	0.396		NaN											NaN	NaN	NaN	NaN	NaN	12	205	---		---	---
ZNF574	64763	broad.mit.edu	37	19	42584313	42584319	+	Frame_Shift_Del	DEL	GGGGAGC	GGGGAGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42584313_42584319delGGGGAGC	uc002osm.3	+	2	1724_1730	c.1555_1561delGGGGAGC	c.(1555-1563)GGGGAGCGGfs	p.G519fs	ZNF574_uc002osk.3_Frame_Shift_Del_p.G609fs	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	519_521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CACACACACAGGGGAGCGGCCCTTCCC	0.609		NaN											NaN	NaN	NaN	NaN	NaN	15	786	---		---	---
SLMO2	51012	broad.mit.edu	37	20	57613514	57613526	+	Splice_Site	DEL	CACTTACAGACTT	CACTTACAGACTT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:57613514_57613526delCACTTACAGACTT	uc002yam.2	-	2	317	c.201_splice	c.e2+1	p.S67_splice	SLMO2_uc010zzv.1_Splice_Site_p.S67_splice	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2											skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			AATAAAGACACACTTACAGACTTCACAATGGAA	0.437		NaN											NaN	NaN	NaN	NaN	NaN	20	200	---		---	---
AP1B1	162	broad.mit.edu	37	22	29745198	29745206	+	Splice_Site	DEL	CTGGCTCAC	CTGGCTCAC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:29745198_29745206delCTGGCTCAC	uc003afj.2	-	11	1621	c.1437_splice	c.e11+1	p.Q479_splice	AP1B1_uc003afi.2_Splice_Site_p.Q479_splice|AP1B1_uc003afk.2_Splice_Site_p.Q479_splice|AP1B1_uc003afl.2_Splice_Site_p.Q479_splice|AP1B1_uc011ako.1_Splice_Site_p.Q32_splice	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GGCCAGCTCGCTGGCTCACCTGTGTGCTC	0.584		NaN											NaN	NaN	NaN	NaN	NaN	12	107	---		---	---
MECOM	2122	broad.mit.edu	37	3	168833343	168833348	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:168833343_168833348delGGGGCT	uc003ffi.3	-	7	2017_2022	c.1748_1753delAGCCCC	c.(1747-1755)CAGCCCCTG>CTG	p.QP583del	MECOM_uc010hwk.1_In_Frame_Del_p.QP606del|MECOM_uc003ffj.3_In_Frame_Del_p.QP648del|MECOM_uc011bpi.1_In_Frame_Del_p.QP584del|MECOM_uc003ffn.3_In_Frame_Del_p.QP583del|MECOM_uc003ffk.2_In_Frame_Del_p.QP583del|MECOM_uc003ffl.2_In_Frame_Del_p.QP743del|MECOM_uc011bpj.1_In_Frame_Del_p.QP771del|MECOM_uc011bpk.1_In_Frame_Del_p.QP573del|MECOM_uc010hwn.2_In_Frame_Del_p.QP771del	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	583_584	CTBP-binding motif 2 (By similarity).				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CTTAGATCCAGGGGCTGGTCTTGGCT	0.534		NaN											NaN	NaN	NaN	NaN	NaN	15	170	---		---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:131676327delT	uc003kwq.2	+	9	1679	c.1514delT	c.(1513-1515)CTTfs	p.L505fs	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	505	Helical; Name=12; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418		NaN											NaN	NaN	NaN	NaN	NaN	8	267	---		---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763792	140763792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140763792delG	uc003lka.1	+	1	1326	c.1326delG	c.(1324-1326)GTGfs	p.V442fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Frame_Shift_Del_p.V442fs	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	442	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCAGGTGGCAGACACCA	0.507		NaN											NaN	NaN	NaN	NaN	NaN	13	116	---		---	---
MDC1	9656	broad.mit.edu	37	6	30671304	30671305	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30671304_30671305insT	uc003nrg.3	-	11	6012_6013	c.5572_5573insA	c.(5572-5574)ACTfs	p.T1858fs	MDC1_uc003nrf.3_Frame_Shift_Ins_p.T489fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1858	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGTTTTGGAGTCACGACATCC	0.505		NaN						Other_conserved_DNA_damage_response_genes					NaN	NaN	NaN	NaN	NaN	223	167	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36651884	36651885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:36651884_36651885insG	uc003omm.3	+	2	128_129	c.6_7insG	c.(4-9)TCAGAAfs	p.S2fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.S36fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.S2fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.S2fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	2_3					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GCGCCATGTCAGAACCGGCTGG	0.629		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	18	18	---	Valid	---	---
GTF2I	2969	broad.mit.edu	37	7	74105441	74105469	+	Splice_Site	DEL	ATTGTAAGCATTGTATTTTTATCTTTTGC	ATTGTAAGCATTGTATTTTTATCTTTTGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC	uc003uau.2	+	3	608	c.238_splice	c.e3+1	p.C80_splice	GTF2I_uc003uat.2_Splice_Site_p.C80_splice|GTF2I_uc003uav.2_Splice_Site_p.C80_splice|GTF2I_uc003uaw.2_Splice_Site_p.C80_splice|GTF2I_uc003uay.2_Splice_Site_p.C80_splice|GTF2I_uc003uax.2_Splice_Site_p.C80_splice	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1						negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TTTGTAAAATATTGTAAGCATTGTATTTTTATCTTTTGCATTTCATTAA	0.24		NaN											NaN	NaN	NaN	NaN	NaN	8	98	---		---	---
PLXNA4	91584	broad.mit.edu	37	7	131825479	131825493	+	In_Frame_Del	DEL	CAGAGAGGCAGGCGT	CAGAGAGGCAGGCGT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:131825479_131825493delCAGAGAGGCAGGCGT	uc003vra.3	-	30	5532_5546	c.5303_5317delACGCCTGCCTCTCTG	c.(5302-5319)GACGCCTGCCTCTCTGTG>GTG	p.DACLS1768del	PLXNA4_uc003vqz.3_In_Frame_Del_p.DACLS53del	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1768_1772	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGAGCCACCACAGAGAGGCAGGCGTCTGTGATGCT	0.558		NaN											NaN	NaN	NaN	NaN	NaN	15	195	---		---	---
FNTA	2339	broad.mit.edu	37	8	42911569	42911570	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:42911569_42911570insC	uc003xps.2	+	1	128_129	c.80_81insC	c.(79-81)CACfs	p.H27fs	FNTA_uc003xpt.2_5'UTR|FNTA_uc003xpu.2_Frame_Shift_Ins_p.H27fs|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	27	Pro-rich.				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCCAGCCGCACCCACCGCCGC	0.748		NaN											NaN	NaN	NaN	NaN	NaN	5	4	---		---	---
TSC1	7248	broad.mit.edu	37	9	135802666	135802666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:135802666delG	uc004cca.2	-	4	366	c.132delC	c.(130-132)ACCfs	p.T44fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.T44fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.T44fs|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Frame_Shift_Del_p.T44fs|TSC1_uc004ccd.2_Frame_Shift_Del_p.T44fs|TSC1_uc004cce.1_Frame_Shift_Del_p.T44fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	44					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AATCCACCAAGGTGTTTACAA	0.448		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				NaN	NaN	NaN	NaN	NaN	33	13	---	Valid	---	---
LHX9	56956	broad.mit.edu	37	1	197881675	197881675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:197881675delC	uc001gui.1	+	1	41	c.14delC	c.(13-15)ACCfs	p.T5fs	LHX9_uc009wzc.1_RNA	NM_001014434	NP_001014434	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 2	Error:Variant_position_missing_in_Q9NQ69_after_alignment					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CTGAACGGTACCACTCTAGAG	0.567		NaN											NaN	NaN	NaN	NaN	NaN	91	139	---		---	---
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Frame_Shift_Del	DEL	G	G	-	rs117404602	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:247835572delG	uc001idi.1	-	1	772	c.772delC	c.(772-774)CGCfs	p.R258fs		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463		NaN											NaN	NaN	NaN	NaN	NaN	62	70	---		---	---
FAM21A	387680	broad.mit.edu	37	10	51855357	51855359	+	Splice_Site	DEL	AGG	AGG	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:51855357_51855359delAGG	uc001jjb.2	+	15	1323	c.1241_splice	c.e15-1	p.G414_splice	FAM21A_uc001jja.1_Splice_Site_p.G166_splice|FAM21A_uc010qhi.1_Splice_Site_p.G414_splice|FAM21A_uc010qhj.1_Splice_Site_p.G414_splice|FAM21B_uc009xoq.2_Splice_Site_p.G326_splice	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680						retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						TTCCACCCACAGGAGACACGGAT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	17	38	---		---	---
OR52K1	390036	broad.mit.edu	37	11	4510227	4510227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:4510227delT	uc001lza.1	+	1	97	c.97delT	c.(97-99)TTCfs	p.F33fs		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCATCCCCTTCTGCTTTGC	0.498		NaN											NaN	NaN	NaN	NaN	NaN	99	63	---		---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Frame_Shift_Ins	INS	-	-	T	rs68192524		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102738795_102738796insT	uc001phk.2	-	5	674_675	c.629_630insA	c.(628-630)ACCfs	p.T210fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416		NaN											NaN	NaN	NaN	NaN	NaN	15	221	---		---	---
USP5	8078	broad.mit.edu	37	12	6973255	6973287	+	In_Frame_Del	DEL	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	uc001qri.3	+	17	2199_2231	c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	c.(2140-2172)GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTdel	p.GSTSAAADPPP714del	USP5_uc001qrh.3_In_Frame_Del_p.GSTSAAADPPP691del	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	714_724	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.D698N(1)		lung(2)|breast(1)|skin(1)	4						TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG	0.635		NaN											NaN	NaN	NaN	NaN	NaN	7	188	---		---	---
AVPR1A	552	broad.mit.edu	37	12	63543915	63543926	+	In_Frame_Del	DEL	GGTACCCAAGAT	GGTACCCAAGAT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:63543915_63543926delGGTACCCAAGAT	uc001sro.1	-	1	2665_2676	c.691_702delATCTTGGGTACC	c.(691-702)ATCTTGGGTACCdel	p.ILGT231del		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	231_234	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGCCGTAGCAGGTACCCAAGATGACCACGGGC	0.632		NaN											NaN	NaN	NaN	NaN	NaN	36	74	---		---	---
VPS33A	65082	broad.mit.edu	37	12	122745915	122745919	+	Frame_Shift_Del	DEL	TCAAC	TCAAC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:122745915_122745919delTCAAC	uc001ucd.2	-	4	485_489	c.372_376delGTTGA	c.(370-378)CGGTTGAAGfs	p.R124fs	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Frame_Shift_Del_p.R124fs	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	124_126					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCAGATCCTTCAACCGCTGTTCGC	0.473		NaN											NaN	NaN	NaN	NaN	NaN	55	131	---		---	---
NEK3	4752	broad.mit.edu	37	13	52707832	52707832	+	Frame_Shift_Del	DEL	C	C	-	rs34488913	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:52707832delC	uc001vgi.2	-	17	1664	c.1429delG	c.(1429-1431)GAGfs	p.E477fs	NEK3_uc001vgg.2_Frame_Shift_Del_p.E454fs|NEK3_uc001vgh.2_Frame_Shift_Del_p.E481fs|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Frame_Shift_Del_p.E460fs	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	477					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACGTGTCCTCCTCATCTAGC	0.408		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SMTNL2	342527	broad.mit.edu	37	17	4510756	4510756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:4510756delT	uc002fyf.1	+	8	1427	c.1360delT	c.(1360-1362)TACfs	p.Y454fs	SMTNL2_uc002fye.2_Frame_Shift_Del_p.Y310fs|uc002fyg.1_5'Flank	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	454	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		CCAGTCGCTGTACAACCACCT	0.612		NaN											NaN	NaN	NaN	NaN	NaN	117	91	---		---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:40336501_40336503delGCA	uc002hzc.1	-	2	152_154	c.65_67delTGC	c.(64-69)CTGCCG>CCG	p.L22del		NM_001524	NP_001515	O43612	OREX_HUMAN	orexin precursor	22					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle					0		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.606		NaN											NaN	NaN	NaN	NaN	NaN	4	8	---		---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs142406301	by1000genomes	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:73626918_73626919insTG	uc010dgl.2	-	12	1742	c.1586_splice	c.e12-1	p.D529_splice	RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644		NaN						Other_identified_genes_with_known_or_suspected_DNA_repair_function					NaN	NaN	NaN	NaN	NaN	5	10	---		---	---
FAM126B	285172	broad.mit.edu	37	2	201846351	201846351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:201846351delG	uc002uws.3	-	12	1423	c.1235delC	c.(1234-1236)CCAfs	p.P412fs	FAM126B_uc002uwu.2_Frame_Shift_Del_p.P386fs|FAM126B_uc002uwv.2_Frame_Shift_Del_p.P412fs	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	412						intracellular				ovary(1)	1						AAGATCAGTTGGTTGCTGTAC	0.478		NaN											NaN	NaN	NaN	NaN	NaN	9	67	---		---	---
CSNK1E	1454	broad.mit.edu	37	22	38696882	38696883	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:38696882_38696883delGC	uc003avj.2	-	5	672_673	c.411_412delGC	c.(409-414)GGGCTGfs	p.G137fs	CSNK1E_uc003avk.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.G137fs	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	137_138	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TTCTTCCCCAGCCCCATGAGGA	0.569		NaN											NaN	NaN	NaN	NaN	NaN	72	68	---		---	---
CACNA1F	778	broad.mit.edu	37	X	49089732	49089749	+	Splice_Site	DEL	GAAGGATTCTCTCACCTT	GAAGGATTCTCTCACCTT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT	uc004dnb.2	-	1	87	c.25_splice	c.e1+1	p.D9_splice	CACNA1F_uc010nip.2_Splice_Site_p.D9_splice|CCDC22_uc011mna.1_5'Flank|CCDC22_uc004dnc.1_5'Flank|CCDC22_uc004dnd.1_5'Flank	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC	0.578		NaN											NaN	NaN	NaN	NaN	NaN	11	26	---		---	---
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Frame_Shift_Ins	INS	-	-	TC	rs147679570		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:20370782_20370783insTC	uc002gxa.1	-	1	66_67	c.1_2insGA	c.(1-3)ATGfs	p.M1fs	LGALS9B_uc002gwz.1_Frame_Shift_Ins_p.M1fs|LGALS9B_uc010vzh.1_Translation_Start_Site	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	1							sugar binding			skin(1)	1						GCTGAAGGCCATCTCCACCGCC	0.584		NaN											NaN	NaN	NaN	NaN	NaN	4	6	---		---	---
PCLO	27445	broad.mit.edu	37	7	82580534	82580534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:82580534delC	uc003uhx.2	-	6	9659	c.9370delG	c.(9370-9372)GCTfs	p.A3124fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.A3124fs|PCLO_uc010lec.2_Frame_Shift_Del_p.A89fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3055					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGCATCAGCCGTATGAATA	0.453		NaN											NaN	NaN	NaN	NaN	NaN	12	21	---		---	---
KLF5	688	broad.mit.edu	37	13	73636411	73636412	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr13:73636411_73636412insG	uc001vje.2	+	2	998_999	c.674_675insG	c.(673-675)CAGfs	p.Q225fs	KLF5_uc001vjd.2_Frame_Shift_Ins_p.Q134fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	225					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTACCCAGCAGGGCCACCTGT	0.455		NaN											NaN	NaN	NaN	NaN	NaN	27	83	---	Valid	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr14:24633132_24633134delAGC	uc001wmq.2	+	5	668_670	c.541_543delAGC	c.(541-543)AGCdel	p.S187del	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_In_Frame_Del_p.S85del	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.448		NaN											NaN	NaN	NaN	NaN	NaN	8	173	---		---	---
CRYBA2	1412	broad.mit.edu	37	2	219857870	219857884	+	In_Frame_Del	DEL	GCCGGGCCCGGCGCG	GCCGGGCCCGGCGCG	-	rs141631259	by1000genomes	TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr2:219857870_219857884delGCCGGGCCCGGCGCG	uc002vjj.1	-	2	50_64	c.15_29delCGCGCCGGGCCCGGC	c.(13-30)CCCGCGCCGGGCCCGGCG>CCG	p.APGPA6del	CRYBA2_uc002vjk.1_In_Frame_Del_p.APGPA6del	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	6_10	N-terminal arm.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTggcgggcgccgggcccggcgcgggggcgcTGC	0.581		NaN											NaN	NaN	NaN	NaN	NaN	6	11	---		---	---
AGFG2	3268	broad.mit.edu	37	7	100148019	100148022	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:100148019_100148022delGTTT	uc003uvf.2	+	3	452_455	c.316_319delGTTT	c.(316-321)GTTTGCfs	p.V106fs	AGFG2_uc003uvg.1_Frame_Shift_Del_p.V106fs|AGFG2_uc010lgy.2_5'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	106_107	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						ATTCTTTTAGGTTTGCCGGAAGAT	0.348		NaN											NaN	NaN	NaN	NaN	NaN	163	137	---		---	---
FLNC	2318	broad.mit.edu	37	7	128492642	128492651	+	Splice_Site	DEL	CAGGTGATGA	CAGGTGATGA	-			TCGA-C4-A0F6-01A-11D-A10S-08	TCGA-C4-A0F6-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	608f8c75-40e4-44f2-bdde-5f07aa6b4bee	cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2	g.chr7:128492642_128492651delCAGGTGATGA	uc003vnz.3	+	36	6052	c.5843_splice	c.e36-1	p.G1948_splice	FLNC_uc003voa.3_Splice_Site_p.G1915_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a						cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACTCCCCCACCAGGTGATGACTCCATGAGG	0.624		NaN											NaN	NaN	NaN	NaN	NaN	15	191	---		---	---
TAF5	6877	broad.mit.edu	37	10	105133276	105133277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr10:105133276_105133277insA	uc001kwv.2	+	2	744_745	c.721_722insA	c.(721-723)TATfs	p.Y241fs	TAF5_uc010qqq.1_Frame_Shift_Ins_p.Y241fs	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	241					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACTTTTTTATCCTCTGTTT	0.371		NaN											NaN	NaN	NaN	NaN	NaN	105	165	---		---	---
MLL2	8085	broad.mit.edu	37	12	49425220	49425220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:49425220delG	uc001rta.3	-	39	13268	c.13268delC	c.(13267-13269)CCAfs	p.P4423fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4423					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGGGCACATGGCTCTTCCCG	0.622		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	30	57	---	Valid	---	---
CDKL4	344387	broad.mit.edu	37	2	39417450	39417453	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:39417450_39417453delTGTT	uc002rrm.2	-	5	645_648	c.645_648delAACA	c.(643-648)AGAACAfs	p.R215fs	CDKL4_uc010fal.1_Frame_Shift_Del_p.R215fs	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	215_216	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TCATACCTAGTGTTCTGATTATCA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	25	96	---		---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	4	802_804	c.683_685delAGG	c.(682-687)GAGGGG>GGG	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.507		NaN											NaN	NaN	NaN	NaN	NaN	7	141	---		---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:92146721delT	uc003uly.2	-	5	1204	c.1108delA	c.(1108-1110)ATTfs	p.I370fs	PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353		NaN											NaN	NaN	NaN	NaN	NaN	7	418	---		---	---
GRN	2896	broad.mit.edu	37	17	42427695	42427696	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:42427695_42427696insCC	uc002igp.1	+	5	668_669	c.449_450insCC	c.(448-450)TGCfs	p.C150fs	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	150					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGGTGCTGCCCCATGCCCC	0.619		NaN											NaN	NaN	NaN	NaN	NaN	12	225	---		---	---
MADCAM1	8174	broad.mit.edu	37	19	504758	504758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:504758delG	uc002los.2	+	5	952	c.942delG	c.(940-942)GCGfs	p.A314fs	MADCAM1_uc002lot.2_Frame_Shift_Del_p.A227fs|MADCAM1_uc010drq.2_Frame_Shift_Del_p.A132fs|C19orf20_uc002lou.2_5'Flank	NM_130760	NP_570116	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion	314	Extracellular (Potential).|Mucin-like.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane					0		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAACCTGCGGGTGACCAGC	0.672		NaN											NaN	NaN	NaN	NaN	NaN	15	113	---		---	---
PCK1	5105	broad.mit.edu	37	20	56136548	56136549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:56136548_56136549insC	uc002xyn.3	+	2	244_245	c.81_82insC	c.(79-84)GTGAGGfs	p.V27fs	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	27_28					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCCAGGCAGTGAGGGAGTTTCT	0.569		NaN											NaN	NaN	NaN	NaN	NaN	15	215	---		---	---
CRYZL1	9946	broad.mit.edu	37	21	34994348	34994349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:34994348_34994349insT	uc011adw.1	-	4	350_351	c.170_171insA	c.(169-171)AAGfs	p.K57fs	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Frame_Shift_Ins_p.K81fs|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Frame_Shift_Ins_p.K57fs	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	57					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						GAAATAAATCCTTTTTCATCTT	0.327		NaN											NaN	NaN	NaN	NaN	NaN	31	230	---		---	---
NAGA	4668	broad.mit.edu	37	22	42463826	42463827	+	In_Frame_Ins	INS	-	-	CAACTGGCATCGCGA			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42463826_42463827insCAACTGGCATCGCGA	uc003bbx.2	-	4	403_404	c.266_267insTCGCGATGCCAGTTG	c.(265-267)GGC>GGTCGCGATGCCAGTTGC	p.89_90insRDASC	NAGA_uc003bby.2_In_Frame_Ins_p.89_90insRDASC|NAGA_uc003bbw.3_In_Frame_Ins_p.89_90insRDASC	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	89_90					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						GCATCAGGCGGCCACTGGCATC	0.614		NaN											NaN	NaN	NaN	NaN	NaN	8	185	---		---	---
STIL	6491	broad.mit.edu	37	1	47716998	47717011	+	Frame_Shift_Del	DEL	CTTGGTTTAAGGTT	CTTGGTTTAAGGTT	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:47716998_47717011delCTTGGTTTAAGGTT	uc001crc.1	-	17	3816_3829	c.3661_3674delAACCTTAAACCAAG	c.(3661-3675)AACCTTAAACCAAGTfs	p.N1221fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N1175fs|STIL_uc010omo.1_Frame_Shift_Del_p.N1204fs|STIL_uc001crd.1_Frame_Shift_Del_p.N1222fs|STIL_uc001cre.1_Frame_Shift_Del_p.N1221fs	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1221_1225					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CACTGCAGGACTTGGTTTAAGGTTCTTTACTAAG	0.402		NaN											NaN	NaN	NaN	NaN	NaN	19	335	---		---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248801602_248801603insCA	uc001ies.1	-	1	957_958	c.957_958insTG	c.(955-960)GTGATCfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T,	319_320	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
DHTKD1	55526	broad.mit.edu	37	10	12160750	12160750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:12160750delT	uc001ild.3	+	15	2504	c.2405delT	c.(2404-2406)GTTfs	p.V802fs		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	802					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCAACAGGGTTAAGACCCTC	0.378		NaN											NaN	NaN	NaN	NaN	NaN	22	543	---		---	---
TIGD3	220359	broad.mit.edu	37	11	65124558	65124558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:65124558delC	uc001odo.3	+	2	1442	c.1279delC	c.(1279-1281)CCCfs	p.P427fs		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	427					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						TGCCTTTGAGCCCCTGCCCAC	0.562		NaN											NaN	NaN	NaN	NaN	NaN	48	34	---		---	---
C12orf35	55196	broad.mit.edu	37	12	32136793	32136794	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32136793_32136794insC	uc001rks.2	+	4	3318_3319	c.2904_2905insC	c.(2902-2907)AAAATAfs	p.K968fs		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	968_969										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTTCACATAAAATATGTGATCA	0.351		NaN											NaN	NaN	NaN	NaN	NaN	10	115	---		---	---
GHDC	84514	broad.mit.edu	37	17	40342704	40342704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40342704delG	uc002hzd.2	-	7	1710	c.1226delC	c.(1225-1227)GCAfs	p.A409fs	GHDC_uc002hzg.1_Frame_Shift_Del_p.A409fs|GHDC_uc010wgg.1_Frame_Shift_Del_p.A370fs|GHDC_uc002hze.3_Frame_Shift_Del_p.A409fs|GHDC_uc002hzf.3_Frame_Shift_Del_p.A409fs	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	409						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGCCCCACTGCCCGGCCCAG	0.637		NaN											NaN	NaN	NaN	NaN	NaN	20	22	---		---	---
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:115202418_115202421delAAGA	uc003krl.2	+	2	237_240	c.121_124delAAGA	c.(121-126)AAGAGAfs	p.K41fs	AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	41_42					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NaN											NaN	NaN	NaN	NaN	NaN	9	77	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44941860	44941861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:44941860_44941861insA	uc004dge.3	+	21	3559_3560	c.3184_3185insA	c.(3184-3186)GATfs	p.D1062fs	KDM6A_uc011mkz.1_Frame_Shift_Ins_p.D1114fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.D1017fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.D1069fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.D766fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.D701fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1062					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AGACCACTCAGATAGTGAATCT	0.317		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	44	95	---	Valid	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:102122901delT	uc001tiq.2	-	8	775	c.643delA	c.(643-645)ATTfs	p.I215fs	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Frame_Shift_Del_p.I215fs|SYCP3_uc001tis.2_Frame_Shift_Del_p.I215fs	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Potential.|Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						TCCATCATAATTTTTTTTTGC	0.259		NaN											NaN	NaN	NaN	NaN	NaN	7	70	---		---	---
NCOR2	9612	broad.mit.edu	37	12	124885065	124885065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:124885065delG	uc010tba.1	-	15	1912	c.1795delC	c.(1795-1797)CAGfs	p.Q599fs	NCOR2_uc010tay.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.Q598fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.Q599fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGCTCTGCTGGGGGGTGATG	0.622		NaN											NaN	NaN	NaN	NaN	NaN	65	92	---	Valid	---	---
ITFG1	81533	broad.mit.edu	37	16	47195718	47195719	+	Frame_Shift_Ins	INS	-	-	CAGTC			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:47195718_47195719insCAGTC	uc002eet.2	-	16	1665_1666	c.1603_1604insGACTG	c.(1603-1605)GCAfs	p.A535fs	ITFG1_uc010vgg.1_Frame_Shift_Ins_p.A280fs|ITFG1_uc010vgh.1_Frame_Shift_Ins_p.A422fs	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	535						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGGAATGATTGCAGTCCACTCT	0.337		NaN											NaN	NaN	NaN	NaN	NaN	7	109	---		---	---
MEX3D	399664	broad.mit.edu	37	19	1556090	1556090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:1556090delA	uc010dsn.2	-	2	1428	c.1428delT	c.(1426-1428)TTTfs	p.F476fs		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	476					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGCGCTCAAAAGGCGCCC	0.652		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RASIP1	54922	broad.mit.edu	37	19	49232663	49232663	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:49232663delC	uc002pki.2	-	5	1561	c.1364delG	c.(1363-1365)GGCfs	p.G455fs		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	455					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GACTGGGGCGCCCCGGGACGG	0.701		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36651923	36651930	+	Frame_Shift_Del	DEL	CAAGGCCT	CAAGGCCT	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			CAAGGCCT	-	CAAGGCCT	CAAGGCCT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:36651923_36651930delCAAGGCCT	uc003omm.3	+	2	167_174	c.45_52delCAAGGCCT	c.(43-54)AGCAAGGCCTGCfs	p.S15fs	CDKN1A_uc011dtq.1_Frame_Shift_Del_p.S49fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.S15fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.S15fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	15_18	Required for binding cyclins.|C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CATGCGGCAGCAAGGCCTGCCGCCGCCT	0.635		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	11	1	---	Valid	---	---
TAF1C	9013	broad.mit.edu	37	16	84213650	84213651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr16:84213650_84213651insG	uc002fhn.2	-	13	1828_1829	c.1600_1601insC	c.(1600-1602)CAGfs	p.Q534fs	TAF1C_uc002fhm.2_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.1_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.1_Frame_Shift_Ins_p.Q125fs|TAF1C_uc010vnz.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.2_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.1_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	534					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						AGGAAGAGACTGGGGGGGGCCT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	7	87	---		---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr17:12647692_12647694delCAG	uc002gnn.2	+	8	1209_1211	c.910_912delCAG	c.(910-912)CAGdel	p.Q310del	MYOCD_uc002gno.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.527		NaN											NaN	NaN	NaN	NaN	NaN	7	78	---		---	---
ACPT	93650	broad.mit.edu	37	19	51298106	51298106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr19:51298106delC	uc002pta.1	+	10	1050	c.1050delC	c.(1048-1050)CTCfs	p.L350fs		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	350	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTCTCAGCCTCCCCGGGTGCC	0.682		NaN											NaN	NaN	NaN	NaN	NaN	7	828	---		---	---
ADAMTS2	9509	broad.mit.edu	37	5	178772259	178772260	+	In_Frame_Ins	INS	-	-	GCA			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chr5:178772259_178772260insGCA	uc003mjw.2	-	1	70_71	c.70_71insTGC	c.(70-72)CCG>CTGCCG	p.23_24insL	ADAMTS2_uc011dgm.1_In_Frame_Ins_p.23_24insL	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	23_24					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		gagcggcggcggcagcagcagc	0.584		NaN											NaN	NaN	NaN	NaN	NaN	7	12	---		---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CF-A3MF-01A-12D-A21A-08	TCGA-CF-A3MF-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c66c92d5-df65-46e6-861d-d8a98808e6a3	d6e91f4c-38c0-4393-9cb7-be076663dff3	g.chrX:140994844_140994846delCCT	uc004fbt.2	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)CCTdel	p.P553del	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567		NaN								HNSCC(15;0.026)			NaN	NaN	NaN	NaN	NaN	9	442	---		---	---
MAEL	84944	broad.mit.edu	37	1	166974581	166974581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:166974581delT	uc001gdy.1	+	8	863	c.792delT	c.(790-792)ACTfs	p.T264fs	MAEL_uc001gdz.1_Frame_Shift_Del_p.T233fs|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	264					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						CCTCTAAGACTTGGATTCGAA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	22	22	---		---	---
CHGA	1113	broad.mit.edu	37	14	93398816	93398818	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:93398816_93398818delGAG	uc001ybc.3	+	7	1170_1172	c.910_912delGAG	c.(910-912)GAGdel	p.E308del	CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_In_Frame_Del_p.E157del	NM_001275	NP_001266	P10645	CMGA_HUMAN	chromogranin A precursor	308					regulation of blood pressure	extracellular region|stored secretory granule				skin(2)	2		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CCAGCAGAAAGAGGAGGAGGAGG	0.655		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
UNC13C	440279	broad.mit.edu	37	15	54825189	54825189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:54825189delC	uc002ack.2	+	24	5621	c.5621delC	c.(5620-5622)ACCfs	p.T1874fs		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1874					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGGAAACACCACATCTAAT	0.313		NaN											NaN	NaN	NaN	NaN	NaN	7	4	---		---	---
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:100218011_100218013delGCT	uc002tag.2	-	13	1491_1493	c.1255_1257delAGC	c.(1255-1257)AGCdel	p.S419del	AFF3_uc002taf.2_In_Frame_Del_p.S444del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						tgctgctgccgctgctgctgctg	0.562		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652011	36652012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:36652011_36652012insC	uc003omm.3	+	2	255_256	c.133_134insC	c.(133-135)GCCfs	p.A45fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.A79fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.A45fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.A45fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	45					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CATCCAGGAGGCCCGTGAGCGA	0.658		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	20	24	---	Valid	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493618	65493620	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:65493618_65493620delGGC	uc003xvi.2	+	1	805_807	c.271_273delGGC	c.(271-273)GGCdel	p.G97del	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	97	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						cgcgggaagtggcggcggcggcg	0.586		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RIMS2	9699	broad.mit.edu	37	8	104933968	104933968	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:104933968delG	uc003yls.2	+	8	1727	c.1486delG	c.(1486-1488)GGAfs	p.G496fs	RIMS2_uc003ylp.2_Frame_Shift_Del_p.G718fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylq.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylr.2_Frame_Shift_Del_p.G573fs|RIMS2_uc003ylt.2_Frame_Shift_Del_p.G119fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.G109fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	796					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATGAGTCCTGGAATGTTGAG	0.348		NaN								HNSCC(12;0.0054)			NaN	NaN	NaN	NaN	NaN	30	54	---		---	---
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:88512304_88512305insT	uc001tar.2	-	17	2010_2011	c.1666_1667insA	c.(1666-1668)ATTfs	p.I556fs	CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	556	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATTTGACGAATTTTTTTTTTC	0.312		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
ANKFY1	51479	broad.mit.edu	37	17	4086731	4086732	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr17:4086731_4086732insGC	uc002fxq.1	-	14	1951_1952	c.1913_1914insGC	c.(1912-1914)GCAfs	p.A638fs	ANKFY1_uc002fxn.2_Frame_Shift_Ins_p.A680fs|ANKFY1_uc002fxo.2_Frame_Shift_Ins_p.A638fs|ANKFY1_uc002fxp.2_Frame_Shift_Ins_p.A637fs|ANKFY1_uc010ckp.2_Frame_Shift_Ins_p.A579fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	638	ANK 9.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GCAGGAAGAGTGCGCTCTTGCT	0.55		NaN											NaN	NaN	NaN	NaN	NaN	60	104	---		---	---
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr18:20716015_20716023delGGCGCCGGC	uc002kuc.2	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)GGCGCCGGCdel	p.GAG97del	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	97_99	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.593		NaN											NaN	NaN	NaN	NaN	NaN	4	2	---		---	---
HPS4	89781	broad.mit.edu	37	22	26868322	26868322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr22:26868322delG	uc003acl.2	-	6	1106	c.447delC	c.(445-447)AACfs	p.N149fs	HPS4_uc003aci.2_Frame_Shift_Del_p.N144fs|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Frame_Shift_Del_p.N149fs|HPS4_uc003ach.2_5'UTR	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	149					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GATCACTGGTGTTTTTCAGAA	0.393		NaN							Hermansky-Pudlak_syndrome				NaN	NaN	NaN	NaN	NaN	68	104	---		---	---
SH3BP2	6452	broad.mit.edu	37	4	2831730	2831731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:2831730_2831731insC	uc003gfi.3	+	8	1217_1218	c.1097_1098insC	c.(1096-1098)GACfs	p.D366fs	SH3BP2_uc011bvp.1_Frame_Shift_Ins_p.D394fs|SH3BP2_uc003gfj.3_Frame_Shift_Ins_p.D423fs|SH3BP2_uc003gfk.3_Frame_Shift_Ins_p.D366fs|SH3BP2_uc003gfl.3_Frame_Shift_Ins_p.D299fs|SH3BP2_uc003gfm.3_Frame_Shift_Ins_p.D341fs	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	366					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCTGAAGAGGACCCCCCAAGGG	0.658		NaN							Cherubism				NaN	NaN	NaN	NaN	NaN	115	33	---		---	---
HMGB2	3148	broad.mit.edu	37	4	174253235	174253240	+	In_Frame_Del	DEL	TCTTCA	TCTTCA	-			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:174253235_174253240delTCTTCA	uc011ckc.1	-	4	741_746	c.621_626delTGAAGA	c.(619-627)GATGAAGAA>GAA	p.DE207del	HMGB2_uc003ita.3_In_Frame_Del_p.DE207del|HMGB2_uc003itb.2_In_Frame_Del_p.DE207del|HMGB2_uc003itc.2_3'UTR	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	207_208	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGCCATTTAttcttcatcttcatcct	0.262		NaN											NaN	NaN	NaN	NaN	NaN	59	112	---		---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013	by1000genomes	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr5:113698631_113698632insGCC	uc003kqo.2	+	1	616_617	c.159_160insGCC	c.(157-162)insGCC	p.58_59insA		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	58_59						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.658		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs35266724		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr9:139277995_139277997delGCT	uc004chh.2	-	15	1633_1635	c.1624_1626delAGC	c.(1624-1626)AGCdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.473		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr1:160589601delT	uc001fwl.3	-	5	1175	c.829delA	c.(829-831)AGCfs	p.S277fs	SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	277	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433		NaN											NaN	NaN	NaN	NaN	NaN	8	178	---		---	---
SPAG6	9576	broad.mit.edu	37	10	22690092	22690093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:22690092_22690093insA	uc001iri.2	+	9	1342_1343	c.1200_1201insA	c.(1198-1203)AGTAAAfs	p.S400fs	SPAG6_uc001irj.2_Frame_Shift_Ins_p.S400fs|SPAG6_uc010qct.1_Frame_Shift_Ins_p.S370fs|SPAG6_uc009xkh.2_Frame_Shift_Ins_p.S378fs	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	400_401	ARM 8.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						ATTTCTAGAGTAAAAAAGCCAT	0.327		NaN											NaN	NaN	NaN	NaN	NaN	16	49	---		---	---
FBXW4	6468	broad.mit.edu	37	10	103454358	103454360	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr10:103454358_103454360delCCT	uc001kto.2	-	1	384_386	c.38_40delAGG	c.(37-42)GAGGCG>GCG	p.E13del		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	13					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TCCCGAGCCGcctcctcctcctc	0.675		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
MARK2	2011	broad.mit.edu	37	11	63668273	63668276	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr11:63668273_63668276delATGA	uc001nxw.2	+	10	1489_1492	c.910_913delATGA	c.(910-915)ATGAATfs	p.M304fs	MARK2_uc001nxx.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxy.2_Frame_Shift_Del_p.M304fs|MARK2_uc001nxv.3_Frame_Shift_Del_p.M304fs|MARK2_uc001nxz.3_Frame_Shift_Del_p.M271fs|MARK2_uc009yoy.2_Frame_Shift_Del_p.M271fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	304_305					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						AGATCGATGGATGAATGTGGGTCA	0.564		NaN											NaN	NaN	NaN	NaN	NaN	95	144	---		---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr13:108518687_108518689delCTG	uc001vql.2	-	1	772_774	c.256_258delCAG	c.(256-258)CAGdel	p.Q86del		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			skin(1)	1						gccgctgcctctgctgctgctgc	0.404		NaN											NaN	NaN	NaN	NaN	NaN	7	31	---		---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr3:129268107_129268108insA	uc003emu.2	+	3	647_648	c.642_643insA	c.(640-645)GCTAGGfs	p.A214fs	H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	214_215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1						CGGGAGAGGCTAGGAAGGTGCC	0.653		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
PILRB	29990	broad.mit.edu	37	7	99956513	99956514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CF-A3MI-01A-11D-A20D-08	TCGA-CF-A3MI-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0afabd62-8454-41b4-9b02-386681589688	0213b9a1-5fdd-4064-aaf8-79fbc9715fff	g.chr7:99956513_99956514insT	uc003uuk.2	+	16	2761_2762	c.265_266insT	c.(265-267)ATTfs	p.I89fs	PILRB_uc003uul.2_Intron|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Frame_Shift_Ins_p.I89fs	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	89	Extracellular (Potential).|Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCGCCTTCCATTCACAAGGAT	0.55		NaN											NaN	NaN	NaN	NaN	NaN	53	105	---		---	---
CDHR5	53841	broad.mit.edu	37	11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:618994delG	uc001lqj.2	-	13	1670	c.1565delC	c.(1564-1566)CCGfs	p.P522fs	IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Frame_Shift_Del_p.P356fs|CDHR5_uc009ycd.2_Frame_Shift_Del_p.P516fs|CDHR5_uc001lql.2_Frame_Shift_Del_p.P522fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	522	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TTCTGCACCCGGGGGCCCCCC	0.677		NaN											NaN	NaN	NaN	NaN	NaN	50	208	---		---	---
P2RX3	5024	broad.mit.edu	37	11	57137457	57137457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:57137457delC	uc001nju.2	+	12	1257	c.1181delC	c.(1180-1182)TCCfs	p.S394fs		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	394	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GGGGCCTTCTCCATAGGCCAC	0.612		NaN											NaN	NaN	NaN	NaN	NaN	14	63	---		---	---
OR11H12	440153	broad.mit.edu	37	14	19377902	19377903	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:19377902_19377903insA	uc010tkp.1	+	1	309_310	c.309_310insA	c.(307-312)GAGAAAfs	p.E103fs		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	103_104	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTCAGAGAAAAAAAACAT	0.386		NaN											NaN	NaN	NaN	NaN	NaN	19	140	---		---	---
GOLGA6B	55889	broad.mit.edu	37	15	72958135	72958136	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:72958135_72958136delCC	uc010uks.1	+	16	1750_1751	c.1709_1710delCC	c.(1708-1710)ACCfs	p.T570fs	uc002aux.1_5'Flank|uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	570	Potential.										0						GAGTCCTTCACCGTATATGAAA	0.629		NaN											NaN	NaN	NaN	NaN	NaN	8	168	---		---	---
SCAP	22937	broad.mit.edu	37	3	47461048	47461048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:47461048delG	uc003crh.1	-	13	1965	c.1710delC	c.(1708-1710)CCCfs	p.P570fs	SCAP_uc011baz.1_Frame_Shift_Del_p.P315fs|SCAP_uc003crg.2_Frame_Shift_Del_p.P178fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	570	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGGGTGGCTGGGGGGCAGCA	0.657		NaN											NaN	NaN	NaN	NaN	NaN	11	92	---		---	---
FAT4	79633	broad.mit.edu	37	4	126412722	126412722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:126412722delC	uc003ifj.3	+	17	14745	c.14745delC	c.(14743-14745)AACfs	p.N4915fs	FAT4_uc011cgp.1_Frame_Shift_Del_p.N3156fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.N2392fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4915	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGCTGACAACACACTGCCCA	0.552		NaN											NaN	NaN	NaN	NaN	NaN	33	51	---		---	---
AMACR	23600	broad.mit.edu	37	5	34008088	34008089	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:34008088_34008089delCG	uc003jig.2	-	1	118_119	c.36_37delCG	c.(34-39)TCCGGCfs	p.S12fs	AMACR_uc003jih.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jii.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jij.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jil.1_Frame_Shift_Del_p.S12fs|AMACR_uc003jik.1_Frame_Shift_Del_p.S12fs	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	12_13					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						GGGGCCAGGCCGGACAGCTCCA	0.688		NaN											NaN	NaN	NaN	NaN	NaN	15	71	---		---	---
LY6G6F	259215	broad.mit.edu	37	6	31675681	31675681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:31675681delC	uc003nwa.1	+	3	416	c.416delC	c.(415-417)TCCfs	p.S139fs	BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Frame_Shift_Del_p.S139fs	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	G6f protein precursor	139	Extracellular (Potential).					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)	2						GCAGATGGATCCCCCTGCAAT	0.602		NaN											NaN	NaN	NaN	NaN	NaN	38	121	---		---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:120612003_120612004delGG	uc001eik.2	-	1	273_274	c.17_18delCC	c.(16-18)CCCfs	p.P6fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.663		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				NaN	NaN	NaN	NaN	NaN	6	12	---		---	---
TRIM67	440730	broad.mit.edu	37	1	231349602	231349603	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:231349602_231349603insCCAC	uc009xfn.1	+	9	2207_2208	c.2165_2166insCCAC	c.(2164-2166)CTGfs	p.L722fs		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	722	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGGGCGTGCTGCTGGACCTGA	0.614		NaN											NaN	NaN	NaN	NaN	NaN	9	200	---		---	---
KIAA0100	9703	broad.mit.edu	37	17	26971195	26971201	+	Frame_Shift_Del	DEL	CCACAAG	CCACAAG	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:26971195_26971201delCCACAAG	uc002hbu.2	-	2	172_178	c.73_79delCTTGTGG	c.(73-81)CTTGTGGTCfs	p.L25fs	KIAA0100_uc002hbv.2_Frame_Shift_Del_p.L25fs|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	25_27						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCCAACCGGACCACAAGCCACCTGCAG	0.483		NaN									OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	7	116	---		---	---
FEZ2	9637	broad.mit.edu	37	2	36805997	36805998	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:36805997_36805998delGC	uc002rph.2	-	5	692_693	c.645_646delGC	c.(643-648)AGGCTCfs	p.R215fs	FEZ2_uc002rpe.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpf.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpg.2_Frame_Shift_Del_p.R215fs|FEZ2_uc002rpi.2_Frame_Shift_Del_p.R70fs|FEZ2_uc002rpj.2_Frame_Shift_Del_p.R215fs	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	215_216	Potential.				axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				GACACTGAGAGCCTTTTCACTC	0.396		NaN											NaN	NaN	NaN	NaN	NaN	14	80	---		---	---
HLA-A	3105	broad.mit.edu	37	6	29910346	29910346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:29910346delC	uc003nol.2	+	1	16	c.16delC	c.(16-18)CCCfs	p.P6fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.P6fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	6					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGTCATGGCGCCCCGAACCCT	0.677		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			NaN	NaN	NaN	NaN	NaN	12	115	---		---	---
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280315	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100280314_100280315insC	uc003uwg.1	-	20	3507_3508	c.2498_2499insG	c.(2497-2499)GGCfs	p.G833fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	833										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCTT	0.693		NaN											NaN	NaN	NaN	NaN	NaN	7	45	---		---	---
EXOSC10	5394	broad.mit.edu	37	1	11141199	11141200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11141199_11141200insC	uc001asa.2	-	11	1426_1427	c.1376_1377insG	c.(1375-1377)GGCfs	p.G459fs	EXOSC10_uc001asb.2_Frame_Shift_Ins_p.G459fs|EXOSC10_uc009vmy.1_Frame_Shift_Ins_p.G459fs	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	459					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGCCCGTTGCCGCGCTCCCA	0.604		NaN											NaN	NaN	NaN	NaN	NaN	20	102	---		---	---
XPR1	9213	broad.mit.edu	37	1	180843056	180843056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843056delT	uc001goi.2	+	13	1978	c.1786delT	c.(1786-1788)TTTfs	p.F596fs	XPR1_uc009wxn.2_Frame_Shift_Del_p.F531fs	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	596	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						TGCTACTGTCTTTGCCCCACT	0.368		NaN											NaN	NaN	NaN	NaN	NaN	39	51	---		---	---
ELF3	1999	broad.mit.edu	37	1	201982385	201982389	+	Frame_Shift_Del	DEL	AAGAG	AAGAG	-	rs137861501		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			AAGAG	-	AAGAG	AAGAG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:201982385_201982389delAAGAG	uc001gxg.3	+	6	3956_3960	c.764_768delAAGAG	c.(763-768)AAAGAGfs	p.K255fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.K255fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.K255fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	255_256					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						AAGCTGAGCAAAGAGTACTGGGACT	0.644		NaN											NaN	NaN	NaN	NaN	NaN	66	71	---	Valid	---	---
BBS10	79738	broad.mit.edu	37	12	76742124	76742126	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:76742124_76742126delCAT	uc001syd.1	-	1	97_99	c.13_15delATG	c.(13-15)ATGdel	p.M5del		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	5					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CTGCAGCGGCCATAGAACTTAAC	0.611		NaN							Bardet-Biedl_syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	10	18	---		---	---
CDADC1	81602	broad.mit.edu	37	13	49833659	49833660	+	Splice_Site	INS	-	-	GTAA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:49833659_49833660insGTAA	uc001vcu.2	+	4	506	c.430_splice	c.e4+1	p.A144_splice	CDADC1_uc001vcs.1_Splice_Site|CDADC1_uc001vct.1_Splice_Site_p.A26_splice|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Splice_Site	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1								hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATTGTAAATGGTAAGTGCAGA	0.272		NaN											NaN	NaN	NaN	NaN	NaN	16	156	---		---	---
PMFBP1	83449	broad.mit.edu	37	16	72205093	72205101	+	Splice_Site	DEL	TACCTCATC	TACCTCATC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:72205093_72205101delTACCTCATC	uc002fcc.3	-	2	184	c.12_splice	c.e2+1	p.E4_splice	PMFBP1_uc002fcd.2_Splice_Site_p.E4_splice|PMFBP1_uc002fce.2_Splice_Site|PMFBP1_uc002fcf.2_Splice_Site	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1											ovary(2)	2		Ovarian(137;0.179)				TTAGGAGCCTTACCTCATCTTTCATTTCC	0.33		NaN											NaN	NaN	NaN	NaN	NaN	14	179	---		---	---
LAMA3	3909	broad.mit.edu	37	18	21437864	21437877	+	Frame_Shift_Del	DEL	GCTTTCCTGAGTGT	GCTTTCCTGAGTGT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437864_21437877delGCTTTCCTGAGTGT	uc002kuq.2	+	33	4279_4292	c.4193_4206delGCTTTCCTGAGTGT	c.(4192-4206)CGCTTTCCTGAGTGTfs	p.R1398fs	LAMA3_uc002kur.2_Frame_Shift_Del_p.R1398fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1398_1402	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA	0.519		NaN											NaN	NaN	NaN	NaN	NaN	53	105	---		---	---
ME2	4200	broad.mit.edu	37	18	48450474	48450480	+	Frame_Shift_Del	DEL	AAAGCAA	AAAGCAA	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:48450474_48450480delAAAGCAA	uc002ley.2	+	11	1319_1325	c.1063_1069delAAAGCAA	c.(1063-1071)AAAGCAAAAfs	p.K355fs	ME2_uc010dpd.2_Frame_Shift_Del_p.K355fs	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	355_357					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTAGGGACGGAAAGCAAAAATAGATAG	0.314		NaN											NaN	NaN	NaN	NaN	NaN	38	60	---		---	---
PNPT1	87178	broad.mit.edu	37	2	55895089	55895089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895089delT	uc002rzf.2	-	12	1034	c.981delA	c.(979-981)AAAfs	p.K327fs	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	327					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCTGGAAATTTTTCTATAG	0.284		NaN											NaN	NaN	NaN	NaN	NaN	19	65	---		---	---
LAMA2	3908	broad.mit.edu	37	6	129498972	129498972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:129498972delC	uc003qbn.2	+	10	1533	c.1428delC	c.(1426-1428)AGCfs	p.S476fs	LAMA2_uc003qbo.2_Frame_Shift_Del_p.S476fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	476	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTTAGGGAGCAAAAATGAGG	0.478		NaN											NaN	NaN	NaN	NaN	NaN	37	83	---		---	---
CPA2	1358	broad.mit.edu	37	7	129919306	129919318	+	Frame_Shift_Del	DEL	CTGGAGCCAGCAG	CTGGAGCCAGCAG	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:129919306_129919318delCTGGAGCCAGCAG	uc003vpq.2	+	9	810_822	c.791_803delCTGGAGCCAGCAG	c.(790-804)CCTGGAGCCAGCAGCfs	p.P264fs		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	264_268					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC	0.502		NaN											NaN	NaN	NaN	NaN	NaN	7	84	---		---	---
IMPAD1	54928	broad.mit.edu	37	8	57905985	57906000	+	Frame_Shift_Del	DEL	CCGCGGGCCCCGCCGC	CCGCGGGCCCCGCCGC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC	uc003xte.3	-	1	428_443	c.145_160delGCGGCGGGGCCCGCGG	c.(145-162)GCGGCGGGGCCCGCGGCCfs	p.A49fs		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	49_54	Poly-Ala.					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TcggccgcggccgcgggccccgccgcgccgccgccA	0.588		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
RALGDS	5900	broad.mit.edu	37	9	135977871	135977872	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:135977871_135977872insCGCT	uc004cco.2	-	14	2020_2021	c.2000_2001insAGCG	c.(1999-2001)CGCfs	p.R667fs	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Frame_Shift_Ins_p.R655fs|RALGDS_uc004ccr.2_Frame_Shift_Ins_p.R666fs|RALGDS_uc011mcv.1_Frame_Shift_Ins_p.R638fs|RALGDS_uc004ccs.2_Frame_Shift_Ins_p.R612fs|RALGDS_uc011mcw.1_Frame_Shift_Ins_p.R738fs|RALGDS_uc004ccv.1_Frame_Shift_Ins_p.R436fs|RALGDS_uc004ccu.1_Frame_Shift_Ins_p.R436fs	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	667					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGCTCCAGCGCTTGACAAT	0.515		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								NaN	NaN	NaN	NaN	NaN	19	155	---		---	---
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:151584734_151584735insGGC	uc001eyn.1	+	1	73_74	c.57_58insGGC	c.(55-60)insGGC	p.25_26insG		NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	25_26					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.441		NaN											NaN	NaN	NaN	NaN	NaN	10	20	---		---	---
BTG2	7832	broad.mit.edu	37	1	203276381	203276382	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			AG	-	AG	AG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:203276381_203276382delAG	uc001gzq.2	+	2	363_364	c.292_293delAG	c.(292-294)AGCfs	p.S98fs	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	98					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCTGCTGCCCAGCGAGCTGACC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	34	93	---	Valid	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194407	70194407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:70194407delC	uc001opo.2	+	16	2242	c.2044delC	c.(2044-2046)CCCfs	p.P682fs	PPFIA1_uc001opn.1_Frame_Shift_Del_p.P682fs|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	682					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGCTCCATTCCCCCCTACCC	0.557		NaN											NaN	NaN	NaN	NaN	NaN	8	2895	---		---	---
SLFN12L	342615	broad.mit.edu	37	17	33806620	33806620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:33806620delA	uc002hjn.2	-	3	1575	c.696delT	c.(694-696)TTTfs	p.F232fs		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						CTGTTCTGTTAAAAAAATCAG	0.368		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
LPPR2	64748	broad.mit.edu	37	19	11473280	11473288	+	In_Frame_Del	DEL	GCGTGGTCC	GCGTGGTCC	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:11473280_11473288delGCGTGGTCC	uc002mre.1	+	7	1092_1100	c.755_763delGCGTGGTCC	c.(754-765)GGCGTGGTCCGC>GGC	p.VVR253del	LPPR2_uc002mrf.1_In_Frame_Del_p.VVR228del|LPPR2_uc010dxy.1_In_Frame_Del_p.VVR60del	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	253_255	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						TTCCTGGTGGGCGTGGTCCGCGTGGCCGA	0.651		NaN											NaN	NaN	NaN	NaN	NaN	22	137	---		---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:55146148_55146150delCTC	uc002qgj.2	+	11	1757_1759	c.1417_1419delCTC	c.(1417-1419)CTCdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)		large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.458		NaN								HNSCC(37;0.09)			NaN	NaN	NaN	NaN	NaN	9	80	---		---	---
FOXC1	2296	broad.mit.edu	37	6	1611802	1611803	+	In_Frame_Ins	INS	-	-	GGC	rs71807729		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:1611802_1611803insGGC	uc003mtp.2	+	1	1122_1123	c.1122_1123insGGC	c.(1120-1125)insGGC	p.380_381insG		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	380_381	Poly-Gly.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		cgggcagctcgggcggcggcgg	0.49		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
PARD3	56288	broad.mit.edu	37	10	34630676	34630689	+	Frame_Shift_Del	DEL	ACCTGTCATCTTCT	ACCTGTCATCTTCT	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr10:34630676_34630689delACCTGTCATCTTCT	uc010qej.1	-	16	2283_2296	c.2283_2296delAGAAGATGACAGGT	c.(2281-2298)ATAGAAGATGACAGGTTGfs	p.I761fs	PARD3_uc010qek.1_Frame_Shift_Del_p.I758fs|PARD3_uc010qel.1_Frame_Shift_Del_p.I761fs|PARD3_uc010qem.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qen.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qeo.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qep.1_Frame_Shift_Del_p.I701fs|PARD3_uc010qeq.1_Frame_Shift_Del_p.I701fs|PARD3_uc001ixo.1_Frame_Shift_Del_p.I475fs|PARD3_uc001ixp.1_Frame_Shift_Del_p.I623fs|PARD3_uc001ixq.1_Frame_Shift_Del_p.I745fs|PARD3_uc001ixr.1_Frame_Shift_Del_p.I758fs|PARD3_uc001ixt.1_Frame_Shift_Del_p.I579fs|PARD3_uc001ixu.1_Frame_Shift_Del_p.I704fs|PARD3_uc001ixs.1_Frame_Shift_Del_p.I414fs	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	761_766	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				AGCACTGGCAACCTGTCATCTTCTATAATGACAG	0.481		NaN											NaN	NaN	NaN	NaN	NaN	32	83	---		---	---
LRDD	55367	broad.mit.edu	37	11	800588	800596	+	In_Frame_Del	DEL	CGCCCTCGA	CGCCCTCGA	-	rs151136652		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:800588_800596delCGCCCTCGA	uc001lro.1	-	12	2130_2138	c.1988_1996delTCGAGGGCG	c.(1987-1998)TTCGAGGGCGAA>TAA	p.663_666FEGE>*	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_In_Frame_Del_p.663_666FEGE>*|LRDD_uc001lrl.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrm.1_In_Frame_Del_p.350_353FEGE>*|LRDD_uc001lrn.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrp.1_In_Frame_Del_p.325_328FEGE>*	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	663_666					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAACTCTTCGCCCTCGAACATCTCCAC	0.684		NaN											NaN	NaN	NaN	NaN	NaN	13	19	---		---	---
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG	rs71408216		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:12009530_12009531insCCG	uc002dbt.2	-	1	295_296	c.47_48insCGG	c.(46-48)GGG>GGCGGG	p.16_16G>GG	GSPT1_uc002dbu.2_In_Frame_Ins_p.16_16G>GG|GSPT1_uc010bux.2_Intron	NM_002094	NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						cgctgctgctcccgccgccgcc	0.332		NaN											NaN	NaN	NaN	NaN	NaN	5	2	---		---	---
CYP7A1	1581	broad.mit.edu	37	8	59410812	59410812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:59410812delT	uc003xtm.3	-	2	360	c.297delA	c.(295-297)AAAfs	p.K99fs		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	99					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAAAGTGAAATTTTTTCCAAT	0.323		NaN							Neonatal_Giant_Cell_Hepatitis				NaN	NaN	NaN	NaN	NaN	29	133	---		---	---
ELF3	1999	broad.mit.edu	37	1	201980282	201980282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:201980282delG	uc001gxg.3	+	1	3210	c.18delG	c.(16-18)GAGfs	p.E6fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.E6fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.E6fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	6					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CAACCTGTGAGATTAGCAACA	0.567		NaN											NaN	NaN	NaN	NaN	NaN	23	22	---	Valid	---	---
OR2T3	343173	broad.mit.edu	37	1	248637607	248637607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr1:248637607delA	uc001iel.1	+	1	956	c.956delA	c.(955-957)TAGfs	p.*319fs		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGAAAAGTAGTAAAGGGCA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	38	185	---		---	---
JUP	3728	broad.mit.edu	37	17	39680110	39680111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr17:39680110_39680111insA	uc010wfs.1	-	9	1584_1585	c.1576_1577insT	c.(1576-1578)TACfs	p.Y526fs	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Frame_Shift_Ins_p.Y363fs	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCCGCTGGTACTCCTGATTC	0.589		NaN											NaN	NaN	NaN	NaN	NaN	13	61	---		---	---
FAT1	2195	broad.mit.edu	37	4	187539870	187539870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr4:187539870delC	uc003izf.2	-	10	8058	c.7870delG	c.(7870-7872)GATfs	p.D2624fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2624	Extracellular (Potential).|Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GAGCCCTCATCGGCATCACTT	0.443		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	11	29	---		---	---
FOXQ1	94234	broad.mit.edu	37	6	1313536	1313537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:1313536_1313537insA	uc003mtl.3	+	1	862_863	c.597_598insA	c.(595-600)AACAGCfs	p.N199fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	199_200	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCAACCCCAACAGCGAGTACAC	0.515		NaN											NaN	NaN	NaN	NaN	NaN	23	7	---	Valid	---	---
MLLT4	4301	broad.mit.edu	37	6	168317781	168317782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr6:168317781_168317782insT	uc003qwd.2	+	19	2696_2697	c.2554_2555insT	c.(2554-2556)CTTfs	p.L852fs	MLLT4_uc003qwb.1_Frame_Shift_Ins_p.L837fs|MLLT4_uc003qwc.1_Frame_Shift_Ins_p.L853fs|MLLT4_uc003qwg.1_Frame_Shift_Ins_p.L162fs	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	853	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AACGACTTTGCTTACCATGGAT	0.277		NaN	T	MLL	AL								NaN	NaN	NaN	NaN	NaN	15	46	---		---	---
GPR107	57720	broad.mit.edu	37	9	132869776	132869779	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:132869776_132869779delTCAA	uc004bze.2	+	14	1491_1494	c.1264_1267delTCAA	c.(1264-1269)TCAATCfs	p.S422fs	GPR107_uc004bzb.2_Frame_Shift_Del_p.S233fs|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Frame_Shift_Del_p.S422fs|GPR107_uc004bzd.2_Frame_Shift_Del_p.S422fs|uc004bzf.2_5'Flank	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	422_423	Helical; Name=5; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				TATTTTTAGGTCAATCAGACATTT	0.407		NaN									OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	15	11	---		---	---
LCN15	389812	broad.mit.edu	37	9	139658915	139658915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A3YL-01A-11D-A22Z-08	TCGA-CU-A3YL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a512bd0-059f-4dcc-846e-fa6dc043c5d1	1dc354e4-2157-4b5e-afb3-5df0822649c7	g.chr9:139658915delA	uc004cjd.2	-	1	51	c.26delT	c.(25-27)ATCfs	p.I9fs		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	9					lipid metabolic process	extracellular region	binding|transporter activity				0						CAGGGTCAGGATTGCGCCGAG	0.642		NaN											NaN	NaN	NaN	NaN	NaN	7	7	---		---	---
TNFRSF25	8718	broad.mit.edu	37	1	6525566	6525567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6525566_6525567insG	uc001ane.2	-	2	181_182	c.93_94insC	c.(91-96)CCCAGGfs	p.P31fs	TNFRSF25_uc001ana.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ang.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anh.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ani.1_Frame_Shift_Ins_p.P31fs	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	31_32	Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCACACCTGGGGCTACGAG	0.673		NaN											NaN	NaN	NaN	NaN	NaN	9	43	---		---	---
ENO1	2023	broad.mit.edu	37	1	8927225	8927226	+	Frame_Shift_Ins	INS	-	-	GG	rs144538182	by1000genomes	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:8927225_8927226insGG	uc001apj.1	-	6	545_546	c.394_395insCC	c.(394-396)CGCfs	p.R132fs	ENO1_uc001api.1_Frame_Shift_Ins_p.R36fs|ENO1_uc001apk.1_Frame_Shift_Ins_p.R77fs|ENO1_uc001apl.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmi.1_Frame_Shift_Ins_p.R89fs|ENO1_uc009vmj.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Frame_Shift_Ins_p.R132fs	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	132	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGCGATGTGGCGGTACAGGGGG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	9	81	---		---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:40713708_40713709delTC	uc001cfe.2	+	1	136_137	c.43_44delTC	c.(43-45)TCTfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				ovary(1)	1	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406		NaN											NaN	NaN	NaN	NaN	NaN	8	810	---		---	---
ARHGEF11	9826	broad.mit.edu	37	1	156911698	156911698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156911698delG	uc001fqo.2	-	33	4330	c.3290delC	c.(3289-3291)CCAfs	p.P1097fs	ARHGEF11_uc010phu.1_Frame_Shift_Del_p.P513fs|ARHGEF11_uc001fqn.2_Frame_Shift_Del_p.P1137fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1097	Poly-Pro.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGGGACCTGGGGGTGGAGG	0.647		NaN											NaN	NaN	NaN	NaN	NaN	14	81	---		---	---
TSKU	25987	broad.mit.edu	37	11	76507283	76507284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:76507283_76507284insC	uc001oxt.2	+	2	795_796	c.623_624insC	c.(622-624)CGCfs	p.R208fs		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	208	LRR 7.					extracellular region					0	Ovarian(111;0.112)					TTGCCCCTGCGCTACCTGAGCC	0.673		NaN											NaN	NaN	NaN	NaN	NaN	43	127	---		---	---
MBD6	114785	broad.mit.edu	37	12	57920933	57920934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920933_57920934insC	uc001soj.1	+	7	2229_2230	c.2005_2006insC	c.(2005-2007)GCCfs	p.A669fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.A536fs|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCACTTTCAGCCCCCCCTACC	0.639		NaN											NaN	NaN	NaN	NaN	NaN	10	38	---		---	---
KEAP1	9817	broad.mit.edu	37	19	10599968	10599969	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10599968_10599969insCA	uc002moq.1	-	5	1763_1764	c.1607_1608insTG	c.(1606-1608)CGCfs	p.R536fs	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Frame_Shift_Ins_p.R536fs	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	536	Kelch 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACATCGTAGCGCTCCACGCT	0.574		NaN											NaN	NaN	NaN	NaN	NaN	11	27	---		---	---
ZNF513	130557	broad.mit.edu	37	2	27603057	27603058	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27603057_27603058delCA	uc002rkk.2	-	2	313_314	c.113_114delTG	c.(112-114)TTGfs	p.L38fs	ZNF513_uc002rkj.2_5'UTR	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	38					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTAGTAGCAAATCACTCTC	0.574		NaN											NaN	NaN	NaN	NaN	NaN	47	153	---		---	---
GPR17	2840	broad.mit.edu	37	2	128408472	128408473	+	Frame_Shift_Ins	INS	-	-	T	rs17852981		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128408472_128408473insT	uc010yzn.1	+	4	858_859	c.247_248insT	c.(247-249)CTTfs	p.L83fs	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Frame_Shift_Ins_p.L83fs|GPR17_uc010yzo.1_Frame_Shift_Ins_p.L55fs|GPR17_uc002tpd.2_Frame_Shift_Ins_p.L55fs	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	83	Helical; Name=1; (Potential).			L -> F (in Ref. 5; AAH31653).		integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGCTCTGTGGCTTTTCATCCGA	0.381		NaN											NaN	NaN	NaN	NaN	NaN	38	111	---		---	---
LASS6	253782	broad.mit.edu	37	2	169571567	169571572	+	In_Frame_Del	DEL	ATATGT	ATATGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:169571567_169571572delATATGT	uc002ueb.1	+	7	790_795	c.666_671delATATGT	c.(664-672)TCATATGTC>TCC	p.YV223del	LASS6_uc002uec.1_In_Frame_Del_p.YV223del	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	223_224	Helical; (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1						TTACCTTTTCATATGTCAACAATATG	0.374		NaN											NaN	NaN	NaN	NaN	NaN	104	186	---		---	---
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701073delC	uc002utb.2	-	2	1184	c.854delG	c.(853-855)GGAfs	p.G285fs		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	285						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458		NaN											NaN	NaN	NaN	NaN	NaN	130	291	---		---	---
ITGA9	3680	broad.mit.edu	37	3	37695244	37695257	+	Frame_Shift_Del	DEL	GCAGACCTGCAGCT	GCAGACCTGCAGCT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:37695244_37695257delGCAGACCTGCAGCT	uc003chd.2	+	17	1932_1945	c.1879_1892delGCAGACCTGCAGCT	c.(1879-1893)GCAGACCTGCAGCTTfs	p.A627fs		NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	627_631	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGACTGTGCCGCAGACCTGCAGCTTCAGGGTAAA	0.505		NaN											NaN	NaN	NaN	NaN	NaN	33	125	---		---	---
IMPG2	50939	broad.mit.edu	37	3	100964653	100964654	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100964653_100964654insA	uc003duq.1	-	12	1738_1739	c.1535_1536insT	c.(1534-1536)GTAfs	p.V512fs	IMPG2_uc011bhe.1_Frame_Shift_Ins_p.V375fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	512	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CACCATCTTCTACCAAGTGAGA	0.436		NaN											NaN	NaN	NaN	NaN	NaN	73	155	---		---	---
MORC1	27136	broad.mit.edu	37	3	108682419	108682419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:108682419delT	uc003dxl.2	-	27	2728	c.2641delA	c.(2641-2643)ATAfs	p.I881fs	MORC1_uc011bhn.1_Frame_Shift_Del_p.I860fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	881					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTCCTCTTTATTTTTTTTTCA	0.284		NaN											NaN	NaN	NaN	NaN	NaN	17	160	---		---	---
RAD50	10111	broad.mit.edu	37	5	131915089	131915102	+	Frame_Shift_Del	DEL	CTGTGCTAAATAAT	CTGTGCTAAATAAT	-	rs138060491		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131915089_131915102delCTGTGCTAAATAAT	uc003kxi.2	+	4	833_846	c.446_459delCTGTGCTAAATAAT	c.(445-459)GCTGTGCTAAATAATfs	p.A149fs	RAD50_uc003kxg.1_Frame_Shift_Del_p.A50fs|RAD50_uc003kxh.2_Frame_Shift_Del_p.A10fs	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	149_153					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTCCAAGGCTGTGCTAAATAATGTCATTTTCT	0.374		NaN						Homologous_recombination					NaN	NaN	NaN	NaN	NaN	19	78	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			AAGT	-	AAGT	AAGT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:44894229_44894232delAAGT	uc004dge.3	+	7	994	c.619_splice	c.e7+1	p.I207_splice	KDM6A_uc010nhk.2_Splice_Site_p.I207_splice|KDM6A_uc011mkz.1_Splice_Site_p.I207_splice|KDM6A_uc011mla.1_Splice_Site_p.I207_splice|KDM6A_uc011mlb.1_Splice_Site_p.I207_splice|KDM6A_uc011mlc.1_Splice_Site	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CCAATGCTGAAAGTAAGTATTATT	0.333		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	66	56	---	Valid	---	---
TAS2R50	259296	broad.mit.edu	37	12	11139103	11139106	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:11139103_11139106delAAGA	uc001qzl.2	-	1	406_409	c.354_357delTCTT	c.(352-357)TTTCTTfs	p.F118fs	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	118_119	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						TCTTTAAATGAAGAAAAAGAAGGT	0.392		NaN											NaN	NaN	NaN	NaN	NaN	23	69	---		---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr12:57009177_57009178insC	uc001slq.1	-	3	550_551	c.356_357insG	c.(355-357)GGAfs	p.G119fs	BAZ2A_uc001slp.1_Frame_Shift_Ins_p.G117fs|BAZ2A_uc010sqr.1_Frame_Shift_Ins_p.G119fs|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.G117fs	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						GTGGGTATTGTCCCCCCGAGAA	0.584		NaN											NaN	NaN	NaN	NaN	NaN	76	151	---		---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr17:73569700_73569701insG	uc002joh.2	+	21	3018_3019	c.2864_2865insG	c.(2863-2865)CCGfs	p.P955fs	LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668		NaN											NaN	NaN	NaN	NaN	NaN	7	56	---		---	---
NEU2	4759	broad.mit.edu	37	2	233899698	233899698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr2:233899698delT	uc010zmn.1	+	2	1074	c.1074delT	c.(1072-1074)GATfs	p.D358fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	358							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGCCAATGATTACGAGGAGA	0.577		NaN											NaN	NaN	NaN	NaN	NaN	92	285	---		---	---
MMP24	10893	broad.mit.edu	37	20	33862215	33862216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr20:33862215_33862216insG	uc002xbu.2	+	9	1744_1745	c.1741_1742insG	c.(1741-1743)CGGfs	p.R581fs	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	581	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAAGGAGCGGCGGCTGCCCCAG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	7	221	---		---	---
MYOT	9499	broad.mit.edu	37	5	137222941	137222941	+	Frame_Shift_Del	DEL	G	G	-	rs141801816	byFrequency	TCGA-DK-A1A5-01A-11D-A13W-08	TCGA-DK-A1A5-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	448fe471-3f4e-4dc8-a4e0-6f147dc93abe	68402877-a578-4bfd-a05e-58c6e06fb6a3	g.chr5:137222941delG	uc011cye.1	+	10	1381	c.1364delG	c.(1363-1365)CGGfs	p.R455fs	PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Frame_Shift_Del_p.R455fs|MYOT_uc011cyg.1_Frame_Shift_Del_p.R271fs|MYOT_uc011cyh.1_Frame_Shift_Del_p.R340fs	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	455	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGCAGTTACGGGTTCGACCA	0.393		NaN											NaN	NaN	NaN	NaN	NaN	42	133	---		---	---
TXNIP	10628	broad.mit.edu	37	1	145440778	145440779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145440778_145440779insA	uc001enn.3	+	6	1319_1320	c.978_979insA	c.(976-981)GATACCfs	p.D326fs	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.D271fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	326_327					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATCCCTGATACCCCAGAAGG	0.48		NaN											NaN	NaN	NaN	NaN	NaN	34	140	---	Valid	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390301	93390311	+	Frame_Shift_Del	DEL	GCAGATCCCAC	GCAGATCCCAC	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93390301_93390311delGCAGATCCCAC	uc001kho.2	-	2	459_469	c.327_337delGTGGGATCTGC	c.(325-339)GCGTGGGATCTGCAGfs	p.A109fs		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	109_113							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				AGATCAAACTGCAGATCCCACGCTGGTTCTT	0.483		NaN											NaN	NaN	NaN	NaN	NaN	104	81	---		---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105372779	105372780	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:105372779_105372780insG	uc001kxj.1	-	11	1144_1145	c.1004_1005insC	c.(1003-1005)CCAfs	p.P335fs	SH3PXD2A_uc010qqr.1_Frame_Shift_Ins_p.P225fs|SH3PXD2A_uc010qqs.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Ins_p.P212fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Ins_p.P170fs|SH3PXD2A_uc010qqu.1_Frame_Shift_Ins_p.P278fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	363					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCCTTCGGCTGGTGGAGTTTC	0.589		NaN											NaN	NaN	NaN	NaN	NaN	7	463	---		---	---
MKI67	4288	broad.mit.edu	37	10	129903675	129903676	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:129903675_129903676insT	uc001lke.2	-	13	6623_6624	c.6428_6429insA	c.(6427-6429)ACCfs	p.T2143fs	MKI67_uc001lkf.2_Frame_Shift_Ins_p.T1783fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1718fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T1293fs	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2143	16 X 122 AA approximate repeats.|10.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTGTGTGTGGTCTGTGTGAG	0.495		NaN											NaN	NaN	NaN	NaN	NaN	15	478	---		---	---
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:68480836delT	uc001ooc.2	-	8	1200	c.1060delA	c.(1060-1062)ATTfs	p.I354fs		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	354					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473		NaN											NaN	NaN	NaN	NaN	NaN	8	2935	---		---	---
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69465988_69465990delGAG	uc001opa.2	+	5	1035_1037	c.826_828delGAG	c.(826-828)GAGdel	p.E280del		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.606		NaN	T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			NaN	NaN	NaN	NaN	NaN	8	1559	---		---	---
LRRIQ1	84125	broad.mit.edu	37	12	85438589	85438590	+	Splice_Site	DEL	TA	TA	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:85438589_85438590delTA	uc001tac.2	+	4	447	c.336_splice	c.e4+2	p.K112_splice	LRRIQ1_uc001tab.1_Splice_Site_p.K112_splice|LRRIQ1_uc001taa.1_Splice_Site_p.K112_splice|LRRIQ1_uc001tad.2_Splice_Site_p.K20_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTAATTAAGGTATATATTCAAT	0.272		NaN											NaN	NaN	NaN	NaN	NaN	29	35	---		---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:25671333delA	uc001upy.2	+	1	1058	c.997delA	c.(997-999)AAAfs	p.K333fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428		NaN											NaN	NaN	NaN	NaN	NaN	7	229	---		---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3119304_3119305insG	uc002cto.2	+	6	864_865	c.653_654insG	c.(652-654)GACfs	p.D218fs	IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						CCACGGGGGGACAAGGAGGAGC	0.574		NaN											NaN	NaN	NaN	NaN	NaN	9	607	---		---	---
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:7579315_7579316insC	uc002gim.2	-	4	565_566	c.371_372insG	c.(370-372)TGCfs	p.C124fs	TP53_uc002gig.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gih.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.C124fs|TP53_uc010cni.1_Frame_Shift_Ins_p.C124fs|TP53_uc002gij.2_Frame_Shift_Ins_p.C124fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.C85fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.C139fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	124	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> R (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.C124R(4)|p.G59fs*23(3)|p.C124fs*46(2)|p.C124G(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.C124fs*0(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124Y(1)|p.C124fs*25(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGACCGTGCAAGTCACAGA	0.545		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	96	38	---	Valid	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38882864_38882866delCCT	uc002oim.2	+	3	363_365	c.359_361delCCT	c.(358-363)CCCTCC>CCC	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.537		NaN											NaN	NaN	NaN	NaN	NaN	12	169	---		---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38899502_38899504delAAG	uc002oin.1	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)AAGdel	p.K349del	FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	349										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606		NaN											NaN	NaN	NaN	NaN	NaN	13	249	---		---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46299147_46299149delCCT	uc002pdm.2	-	6	2275_2277	c.2132_2134delAGG	c.(2131-2136)GAGGGC>GGC	p.E711del	RSPH6A_uc002pdl.2_In_Frame_Del_p.E447del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	711	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						GTctcctcgccctcctcctcctc	0.409		NaN											NaN	NaN	NaN	NaN	NaN	22	739	---		---	---
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20920813_20920814insCAG	uc002zsp.2	+	7	830_831	c.750_751insCAG	c.(748-753)insCAG	p.262_263insQ	MED15_uc002zso.2_In_Frame_Ins_p.191_192insQ|MED15_uc002zsq.2_In_Frame_Ins_p.262_263insQ|MED15_uc010gso.2_In_Frame_Ins_p.262_263insQ|MED15_uc002zsr.2_In_Frame_Ins_p.236_237insQ|MED15_uc011ahs.1_In_Frame_Ins_p.236_237insQ|MED15_uc002zss.2_In_Frame_Ins_p.181_182insQ|MED15_uc011ahu.1_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	262_263				Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.312		NaN											NaN	NaN	NaN	NaN	NaN	13	116	---		---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184039744_184039746delGAA	uc003fnp.2	+	10	1570_1572	c.1372_1374delGAA	c.(1372-1374)GAAdel	p.E465del	EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.443		NaN											NaN	NaN	NaN	NaN	NaN	12	668	---		---	---
TNK2	10188	broad.mit.edu	37	3	195599180	195599181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:195599180_195599181insG	uc003fvu.1	-	10	1960_1961	c.1417_1418insC	c.(1417-1419)CGCfs	p.R473fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Ins_p.R505fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.R536fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.R303fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	473				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCAGCAGTGGCGGGGGTCACTG	0.673		NaN											NaN	NaN	NaN	NaN	NaN	19	288	---		---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:89618431_89618433delCCT	uc003hrx.2	-	1	591_593	c.473_475delAGG	c.(472-477)GAGGCT>GCT	p.E158del	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.389		NaN											NaN	NaN	NaN	NaN	NaN	7	304	---		---	---
PCDH10	57575	broad.mit.edu	37	4	134072435	134072435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:134072435delC	uc003iha.2	+	1	1966	c.1140delC	c.(1138-1140)TTCfs	p.F380fs	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Frame_Shift_Del_p.F380fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	380	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCCCTTTTCAGCGTGACTG	0.577		NaN											NaN	NaN	NaN	NaN	NaN	202	192	---		---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:26017448delT	uc003nfo.2	-	1	593	c.513delA	c.(511-513)AAAfs	p.K171fs		NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						CAGTTTTGGGTTTTTTTGGAT	0.483		NaN											NaN	NaN	NaN	NaN	NaN	7	1492	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44950105	44950111	+	Splice_Site	DEL	ATTAAGT	ATTAAGT	-	rs148188315		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08			ATTAAGT	-	ATTAAGT	ATTAAGT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:44950105_44950111delATTAAGT	uc004dge.3	+	26	4253	c.3878_splice	c.e26+1	p.K1293_splice	KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TTTTGAAATGATTAAGTAAGTCTTTTC	0.353		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	18	16	---	Valid	---	---
RYR2	6262	broad.mit.edu	37	1	237972206	237972209	+	Frame_Shift_Del	DEL	ATTA	ATTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:237972206_237972209delATTA	uc001hyl.1	+	100	14424_14427	c.14304_14307delATTA	c.(14302-14307)GTATTAfs	p.V4768fs	RYR2_uc010pyb.1_Frame_Shift_Del_p.V201fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4768_4769	Helical; Name=M8; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCAGCTCGTATTAACCGTTGGCT	0.407		NaN											NaN	NaN	NaN	NaN	NaN	46	306	---		---	---
C11orf9	745	broad.mit.edu	37	11	61544788	61544806	+	Frame_Shift_Del	DEL	CACAGGTGCCCGACACCGT	CACAGGTGCCCGACACCGT	-	rs75764154	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:61544788_61544806delCACAGGTGCCCGACACCGT	uc001nsc.1	+	12	1739_1757	c.1643_1661delCACAGGTGCCCGACACCGT	c.(1642-1662)GCACAGGTGCCCGACACCGTCfs	p.A548fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.A539fs|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	548_554					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TGGCAGCGGGCACAGGTGCCCGACACCGTCTTCCACCAC	0.653		NaN											NaN	NaN	NaN	NaN	NaN	8	13	---		---	---
AVIL	10677	broad.mit.edu	37	12	58197160	58197179	+	Splice_Site	DEL	ATTTCCTGCTGAAGTCTGCA	ATTTCCTGCTGAAGTCTGCA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:58197160_58197179delATTTCCTGCTGAAGTCTGCA	uc001sqj.1	-	15	1847	c.1818_splice	c.e15-1	p.R606_splice	AVIL_uc009zqe.1_Splice_Site_p.R599_splice|AVIL_uc001sqk.1_Splice_Site_p.R184_splice	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin						actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCTAGGATTTCCTGCTGAAGTCTGCAATATAGTCCA	0.459		NaN									OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	34	59	---		---	---
NUP107	57122	broad.mit.edu	37	12	69120293	69120305	+	Frame_Shift_Del	DEL	TTTAGCAAATGGC	TTTAGCAAATGGC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:69120293_69120305delTTTAGCAAATGGC	uc001suf.2	+	19	1706_1718	c.1591_1603delTTTAGCAAATGGC	c.(1591-1605)TTTAGCAAATGGCTTfs	p.F531fs	NUP107_uc001sug.2_Frame_Shift_Del_p.F378fs|NUP107_uc010stj.1_Frame_Shift_Del_p.F502fs	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	531_535					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GATGGATGAGTTTAGCAAATGGCTTTCCAAAAG	0.352		NaN											NaN	NaN	NaN	NaN	NaN	25	277	---		---	---
TBX5	6910	broad.mit.edu	37	12	114836462	114836462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:114836462delG	uc001tvo.2	-	5	921	c.426delC	c.(424-426)CCCfs	p.P142fs	TBX5_uc001tvp.2_Frame_Shift_Del_p.P142fs|TBX5_uc001tvq.2_Frame_Shift_Del_p.P92fs|TBX5_uc010syv.1_Frame_Shift_Del_p.P142fs	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	142	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCCCGGTGGCGGGGGAGTCTG	0.612		NaN											NaN	NaN	NaN	NaN	NaN	18	22	---		---	---
ZNF768	79724	broad.mit.edu	37	16	30537683	30537692	+	Frame_Shift_Del	DEL	AACTCTGCAC	AACTCTGCAC	-	rs145753318		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:30537683_30537692delAACTCTGCAC	uc002dyk.3	-	1	219_228	c.43_52delGTGCAGAGTT	c.(43-54)GTGCAGAGTTCTfs	p.V15fs	ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	15_18					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						ATTTCGTCAGAACTCTGCACATCCTGGGGC	0.714		NaN											NaN	NaN	NaN	NaN	NaN	7	28	---		---	---
NFAT5	10725	broad.mit.edu	37	16	69725894	69725908	+	In_Frame_Del	DEL	ATTGCAGCAGGCTAC	ATTGCAGCAGGCTAC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69725894_69725908delATTGCAGCAGGCTAC	uc002exm.1	+	12	3320_3334	c.2112_2126delATTGCAGCAGGCTAC	c.(2110-2127)CTATTGCAGCAGGCTACA>CTA	p.LQQAT705del	NFAT5_uc002exi.2_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exj.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exk.1_In_Frame_Del_p.LQQAT629del|NFAT5_uc002exl.1_In_Frame_Del_p.LQQAT723del|NFAT5_uc002exn.1_In_Frame_Del_p.LQQAT722del|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	705_709					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGATGCACTATTGCAGCAGGCTACACAGTTTCAG	0.465		NaN											NaN	NaN	NaN	NaN	NaN	13	65	---		---	---
PKD1L2	114780	broad.mit.edu	37	16	81232612	81232624	+	Frame_Shift_Del	DEL	GGGTGGTGGACTC	GGGTGGTGGACTC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:81232612_81232624delGGGTGGTGGACTC	uc002fgh.1	-	7	1186_1198	c.1186_1198delGAGTCCACCACCC	c.(1186-1200)GAGTCCACCACCCAAfs	p.E396fs	PKD1L2_uc002fgj.2_Frame_Shift_Del_p.E396fs	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	396_400	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAGCCCTTTTGGGTGGTGGACTCGGCCAGGGTT	0.516		NaN											NaN	NaN	NaN	NaN	NaN	15	84	---		---	---
RBM44	375316	broad.mit.edu	37	2	238726935	238726943	+	In_Frame_Del	DEL	CAAGTTGTA	CAAGTTGTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:238726935_238726943delCAAGTTGTA	uc002vxi.3	+	3	1508_1516	c.1376_1384delCAAGTTGTA	c.(1375-1386)GCAAGTTGTACA>GCA	p.SCT460del		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	459_461							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAGATGCAGCAAGTTGTACAGTCACAAT	0.397		NaN											NaN	NaN	NaN	NaN	NaN	24	65	---		---	---
HK3	3101	broad.mit.edu	37	5	176308405	176308406	+	Frame_Shift_Ins	INS	-	-	C	rs145283059		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176308405_176308406insC	uc003mfa.2	-	18	2616_2617	c.2524_2525insG	c.(2524-2526)GCGfs	p.A842fs	HK3_uc003mez.2_Frame_Shift_Ins_p.A398fs	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	842	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTACACCCGCCCCACAGAGC	0.639		NaN											NaN	NaN	NaN	NaN	NaN	24	29	---		---	---
SGK1	6446	broad.mit.edu	37	6	134493873	134493887	+	In_Frame_Del	DEL	GTTCCAGGAAGCAGC	GTTCCAGGAAGCAGC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:134493873_134493887delGTTCCAGGAAGCAGC	uc003qen.3	-	7	664_678	c.575_589delGCTGCTTCCTGGAAC	c.(574-591)CGCTGCTTCCTGGAACCA>CCA	p.RCFLE192del	SGK1_uc003qeo.3_In_Frame_Del_p.RCFLE287del|SGK1_uc011ect.1_In_Frame_Del_p.RCFLE182del|SGK1_uc011ecu.1_In_Frame_Del_p.RCFLE148del|SGK1_uc011ecv.1_In_Frame_Del_p.RCFLE206del|SGK1_uc011ecw.1_In_Frame_Del_p.RCFLE220del	NM_005627	NP_005618	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	192_196	Protein kinase.			E -> G (in Ref. 4; CAR58095).	apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGAGCCCGTGGTTCCAGGAAGCAGCGTTCCCTCTG	0.46		NaN											NaN	NaN	NaN	NaN	NaN	13	28	---		---	---
CDK13	8621	broad.mit.edu	37	7	40027759	40027772	+	Frame_Shift_Del	DEL	AGGAGCCAAGGAGA	AGGAGCCAAGGAGA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:40027759_40027772delAGGAGCCAAGGAGA	uc003thh.3	+	2	2055_2068	c.1773_1786delAGGAGCCAAGGAGA	c.(1771-1788)ATAGGAGCCAAGGAGAAGfs	p.I591fs	CDK13_uc003thi.3_Frame_Shift_Del_p.I591fs|CDK13_uc011kbf.1_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	591_596					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CACCAAGCATAGGAGCCAAGGAGAAGGAGCAACA	0.43		NaN											NaN	NaN	NaN	NaN	NaN	12	40	---		---	---
NBN	4683	broad.mit.edu	37	8	90955588	90955607	+	Splice_Site	DEL	ATGTGACCTATTGAATAATA	ATGTGACCTATTGAATAATA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:90955588_90955607delATGTGACCTATTGAATAATA	uc003yej.1	-	14	2181	c.2071_splice	c.e14-1	p.V691_splice	NBN_uc003yei.1_Splice_Site_p.V609_splice|NBN_uc011lgb.1_Splice_Site_p.V691_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin						cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCTCCAGGATATGTGACCTATTGAATAATAAAAGTAGTAC	0.336		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				NaN	NaN	NaN	NaN	NaN	45	94	---		---	---
LAD1	3898	broad.mit.edu	37	1	201355634	201355635	+	Frame_Shift_Ins	INS	-	-	G	rs140126456	by1000genomes	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr1:201355634_201355635insG	uc001gwm.2	-	3	1089_1090	c.854_855insC	c.(853-855)ACAfs	p.T285fs	LAD1_uc009wzu.1_Frame_Shift_Ins_p.T307fs	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	285						basement membrane	structural molecule activity				0						GCTCTGAGGCTGTGGCCCTCTT	0.634		NaN											NaN	NaN	NaN	NaN	NaN	8	193	---		---	---
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site	INS	-	-	C	rs148075904	by1000genomes	TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr17:26684390_26684391insC	uc002haz.2	-	3	211	c.79_splice	c.e3+0	p.P27_splice	POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762		NaN											NaN	NaN	NaN	NaN	NaN	4	4	---		---	---
LPHN1	22859	broad.mit.edu	37	19	14272185	14272186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr19:14272185_14272186insC	uc010xnn.1	-	7	1759_1760	c.1463_1464insG	c.(1462-1464)GTCfs	p.V488fs	LPHN1_uc010xno.1_Frame_Shift_Ins_p.V483fs|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CCGGCCACTGGACCCGCCGTAC	0.713		NaN											NaN	NaN	NaN	NaN	NaN	8	23	---		---	---
GKN1	56287	broad.mit.edu	37	2	69201773	69201774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr2:69201773_69201774insG	uc002sfc.2	+	1	69_70	c.6_7insG	c.(4-9)CTTGCCfs	p.L2fs		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	2_3					digestion|positive regulation of cell division	extracellular region				breast(1)	1						GGTCCATGCTTGCCTACTCCTC	0.411		NaN											NaN	NaN	NaN	NaN	NaN	33	37	---		---	---
GPM6A	2823	broad.mit.edu	37	4	176622885	176622885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr4:176622885delC	uc003iuf.2	-	2	875	c.71delG	c.(70-72)GGCfs	p.G24fs	GPM6A_uc011ckj.1_Frame_Shift_Del_p.G17fs|GPM6A_uc003iug.2_Frame_Shift_Del_p.G24fs|GPM6A_uc003iuh.2_Frame_Shift_Del_p.G13fs	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	24	Helical; (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATAGGGAATGCCCCCCAGGCA	0.428		NaN											NaN	NaN	NaN	NaN	NaN	23	52	---		---	---
SPTAN1	6709	broad.mit.edu	37	9	131374468	131374469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chr9:131374468_131374469insT	uc004bvl.3	+	38	5084_5085	c.4971_4972insT	c.(4969-4974)GCCAACfs	p.A1657fs	SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.A1662fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.A1637fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1657_1658	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAAAGAAGCCAACAAGCAGCA	0.53		NaN											NaN	NaN	NaN	NaN	NaN	82	12	---		---	---
STAG2	10735	broad.mit.edu	37	X	123211880	123211881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AA-01A-11D-A13W-08	TCGA-DK-A1AA-10A-01D-A13W-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	804ffa2e-158b-447d-945c-707684134c87	d44f75a2-9a75-4025-99a2-2bd68d2b0e82	g.chrX:123211880_123211881insT	uc004etz.3	+	26	3086_3087	c.2747_2748insT	c.(2746-2748)GCTfs	p.A916fs	STAG2_uc004eua.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.A916fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	916					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						ATTCAGTGTGCTAAGACCCTTA	0.322		NaN											NaN	NaN	NaN	NaN	NaN	47	6	---	Valid	---	---
PIGK	10026	broad.mit.edu	37	1	77588010	77588010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:77588010delC	uc001dhk.2	-	10	1066	c.1021delG	c.(1021-1023)GAAfs	p.E341fs	PIGK_uc010orj.1_Frame_Shift_Del_p.E265fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.E247fs	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	341	Lumenal (Potential).			Missing: Loss of activity.	attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TTCAGAGGTTCCATTAGTTTC	0.313		NaN											NaN	NaN	NaN	NaN	NaN	21	99	---		---	---
HIST3H2A	92815	broad.mit.edu	37	1	228645368	228645386	+	Frame_Shift_Del	DEL	AGACCGGGGCGCCGGCGCC	AGACCGGGGCGCCGGCGCC	-	rs143327597	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228645368_228645386delAGACCGGGGCGCCGGCGCC	uc001hsy.2	-	1	175_193	c.133_151delGGCGCCGGCGCCCCGGTCT	c.(133-153)GGCGCCGGCGCCCCGGTCTATfs	p.G45fs	HIST3H2BB_uc001hsz.2_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	45_51					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1		Prostate(94;0.183)				GCGGCCAGATAGACCGGGGCGCCGGCGCCCACGCGCTCC	0.703		NaN											NaN	NaN	NaN	NaN	NaN	7	10	---		---	---
HERC4	26091	broad.mit.edu	37	10	69748513	69748513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:69748513delC	uc001jng.3	-	15	2024	c.1713delG	c.(1711-1713)TTGfs	p.L571fs	HERC4_uc009xpq.2_Frame_Shift_Del_p.L112fs|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Frame_Shift_Del_p.L571fs|HERC4_uc009xpr.2_Frame_Shift_Del_p.L571fs|HERC4_uc001jni.3_Frame_Shift_Del_p.L315fs|HERC4_uc001jnj.2_Frame_Shift_Del_p.L571fs	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	571					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TGTAGAGTTTCAAAAGATGTA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	57	176	---		---	---
CHUK	1147	broad.mit.edu	37	10	101953863	101953865	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101953863_101953865delTCT	uc001kqp.2	-	18	1905_1907	c.1850_1852delAGA	c.(1849-1854)AAGATT>ATT	p.K617del		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	617					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGATCAATAATCTTCTGCTTACA	0.433		NaN											NaN	NaN	NaN	NaN	NaN	41	44	---		---	---
AVIL	10677	broad.mit.edu	37	12	58191766	58191783	+	Splice_Site	DEL	CAGAGAGGTAATTCTAAG	CAGAGAGGTAATTCTAAG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58191766_58191783delCAGAGAGGTAATTCTAAG	uc001sqj.1	-	19	2376	c.2347_splice	c.e19-1	p.N783_splice	AVIL_uc009zqe.1_Splice_Site_p.N776_splice	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin						actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AAGTCCTGTTCAGAGAGGTAATTCTAAGAGAGAAAACA	0.436		NaN											NaN	NaN	NaN	NaN	NaN	20	57	---		---	---
SLC25A3	5250	broad.mit.edu	37	12	98995210	98995211	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:98995210_98995211delTA	uc001tfo.2	+	8	1113_1114	c.993_994delTA	c.(991-996)TTTATCfs	p.F331fs	SLC25A3_uc001tfm.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfn.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfp.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfq.2_Frame_Shift_Del_p.F200fs|SLC25A3_uc001tfr.2_Frame_Shift_Del_p.F331fs|SLC25A3_uc001tfs.2_Frame_Shift_Del_p.F287fs|SLC25A3_uc009ztn.2_Frame_Shift_Del_p.F293fs|SLC25A3_uc001tft.2_Frame_Shift_Del_p.F330fs	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	331_332	Solcar 3.|Helical; Name=6; (Potential).				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TACAGTGGTTTATCTATGACTC	0.46		NaN											NaN	NaN	NaN	NaN	NaN	81	121	---		---	---
MIPEP	4285	broad.mit.edu	37	13	24411850	24411850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:24411850delC	uc001uox.3	-	13	1484	c.1384delG	c.(1384-1386)GACfs	p.D462fs		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	462					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGTTGATAGTCTCCATCTTCC	0.393		NaN											NaN	NaN	NaN	NaN	NaN	24	117	---		---	---
MIPOL1	145282	broad.mit.edu	37	14	37717025	37717051	+	Splice_Site	DEL	TTATTTTAGCTGCAAATCTTGGAGCAA	TTATTTTAGCTGCAAATCTTGGAGCAA	-	rs116728484	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:37717025_37717051delTTATTTTAGCTGCAAATCTTGGAGCAA	uc001wuc.2	+	4	444	c.-59_splice	c.e4-1		MIPOL1_uc010amr.2_Splice_Site|MIPOL1_uc001wub.3_Splice_Site|MIPOL1_uc001wud.2_Splice_Site|MIPOL1_uc010ams.2_Splice_Site|MIPOL1_uc001wue.2_Splice_Site|MIPOL1_uc010amt.2_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1											ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGAGTTGGCTTTATTTTAGCTGCAAATCTTGGAGCAAAAACCAGAGA	0.339		NaN											NaN	NaN	NaN	NaN	NaN	7	26	---		---	---
GREM1	26585	broad.mit.edu	37	15	33023246	33023247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33023246_33023247insA	uc001zhe.1	+	2	514_515	c.355_356insA	c.(355-357)TACfs	p.Y119fs	GREM1_uc001zhd.1_Frame_Shift_Ins_p.Y49fs|GREM1_uc010uby.1_Frame_Shift_Ins_p.Y78fs	NM_013372	NP_037504	O60565	GREM1_HUMAN	gremlin-1 precursor	119	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity				0		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CCGCTTCTGTTACGGCCAGTGC	0.535		NaN											NaN	NaN	NaN	NaN	NaN	43	61	---		---	---
TRAF4	9618	broad.mit.edu	37	17	27075334	27075357	+	In_Frame_Del	DEL	GCCCGCATGATGCGGCGGCTGCTG	GCCCGCATGATGCGGCGGCTGCTG	-	rs35932778	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG	uc002hcs.2	+	5	625_648	c.517_540delGCCCGCATGATGCGGCGGCTGCTG	c.(517-540)GCCCGCATGATGCGGCGGCTGCTGdel	p.ARMMRRLL173del	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	173_180	TRAF-type 2.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TAAGTGTGGTGCCCGCATGATGCGGCGGCTGCTGGCCCAGCATG	0.576		NaN											NaN	NaN	NaN	NaN	NaN	10	39	---		---	---
MAPT	4137	broad.mit.edu	37	17	44096051	44096072	+	Frame_Shift_Del	DEL	GTCCCTGGACAATATCACCCAC	GTCCCTGGACAATATCACCCAC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:44096051_44096072delGTCCCTGGACAATATCACCCAC	uc002ijr.3	+	13	2336_2357	c.2016_2037delGTCCCTGGACAATATCACCCAC	c.(2014-2037)GGGTCCCTGGACAATATCACCCACfs	p.G672fs	MAPT_uc010dau.2_Frame_Shift_Del_p.G690fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.G355fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.G326fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.G297fs|MAPT_uc002iju.3_Frame_Shift_Del_p.G266fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.G273fs	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	672_679	Tau/MAP 4.				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCG	0.5		NaN											NaN	NaN	NaN	NaN	NaN	25	116	---		---	---
WDR45L	56270	broad.mit.edu	37	17	80588887	80588889	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80588887_80588889delCTT	uc002kfq.2	-	3	347_349	c.152_154delAAG	c.(151-156)GAAGGA>GGA	p.E51del	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	51					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			CCAACTCCTCCTTCTAGAAATTC	0.335		NaN											NaN	NaN	NaN	NaN	NaN	55	181	---		---	---
RBBP8	5932	broad.mit.edu	37	18	20596832	20596833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20596832_20596833insC	uc002ktw.2	+	17	2730_2731	c.2399_2400insC	c.(2398-2400)CGGfs	p.R800fs	RBBP8_uc002kty.2_Frame_Shift_Ins_p.R800fs|RBBP8_uc002ktz.2_Intron|RBBP8_uc002kua.2_Frame_Shift_Ins_p.R805fs|RBBP8_uc010xap.1_Frame_Shift_Ins_p.R138fs	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	800					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGTGGTTCGGAAAAAAGAGG	0.351		NaN						Direct_reversal_of_damage|Homologous_recombination					NaN	NaN	NaN	NaN	NaN	9	35	---		---	---
CC2D1A	54862	broad.mit.edu	37	19	14037992	14037992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14037992delC	uc002mxo.2	+	22	2529	c.2230delC	c.(2230-2232)CTGfs	p.L744fs	CC2D1A_uc002mxp.2_Frame_Shift_Del_p.L744fs|CC2D1A_uc010dzh.2_Frame_Shift_Del_p.L313fs|CC2D1A_uc002mxq.1_3'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	744	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACAGGGGGCTGTTCAAGAC	0.602		NaN											NaN	NaN	NaN	NaN	NaN	8	125	---		---	---
FOSL2	2355	broad.mit.edu	37	2	28634949	28634950	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28634949_28634950insCT	uc002rma.2	+	4	1424_1425	c.615_616insCT	c.(613-618)GGGCTGfs	p.G205fs	FOSL2_uc010ymi.1_Frame_Shift_Ins_p.G166fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	205_206					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCTGGGCTGCAGCCCAT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	23	93	---		---	---
POU3F3	5455	broad.mit.edu	37	2	105473173	105473180	+	Frame_Shift_Del	DEL	CGCAGGGC	CGCAGGGC	-	rs140129722		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105473173_105473180delCGCAGGGC	uc010ywg.1	+	1	1205_1212	c.1205_1212delCGCAGGGC	c.(1204-1212)GCGCAGGGCfs	p.A402fs		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	402_404					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						AAGATCGCGGCGCAGGGCCGCAAGCGCA	0.625		NaN											NaN	NaN	NaN	NaN	NaN	12	26	---		---	---
NCOA5	57727	broad.mit.edu	37	20	44691177	44691186	+	Frame_Shift_Del	DEL	GGTCTGGGGC	GGTCTGGGGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44691177_44691186delGGTCTGGGGC	uc002xrd.2	-	7	2021_2030	c.1493_1502delGCCCCAGACC	c.(1492-1503)GGCCCCAGACCTfs	p.G498fs	NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Frame_Shift_Del_p.G498fs	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	498_501	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				AGGAGCCCCAGGTCTGGGGCCCATGTTCTG	0.557		NaN											NaN	NaN	NaN	NaN	NaN	24	60	---		---	---
PBRM1	55193	broad.mit.edu	37	3	52584525	52584526	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:52584525_52584526delCC	uc003des.2	-	29	4820_4821	c.4808_4809delGG	c.(4807-4809)CGGfs	p.R1603fs	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.R1496fs|PBRM1_uc003der.2_Frame_Shift_Del_p.R1516fs|PBRM1_uc003det.2_Frame_Shift_Del_p.R1511fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.R1566fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.R1548fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.R1523fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.R1496fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1603					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTGAAGAAGCCGCTGGGTCTT	0.545		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								NaN	NaN	NaN	NaN	NaN	15	65	---		---	---
AMOTL2	51421	broad.mit.edu	37	3	134077396	134077397	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:134077396_134077397insT	uc003eqf.2	-	9	2557_2558	c.2440_2441insA	c.(2440-2442)AGAfs	p.R814fs	AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.R757fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.R754fs|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Frame_Shift_Ins_p.R382fs	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	756										large_intestine(1)	1						AGAGGCTGCTCTCTGGCTACTG	0.629		NaN									OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	8	44	---		---	---
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3015470delA	uc003ggn.1	+	8	1111	c.656delA	c.(655-657)CAAfs	p.Q219fs	GRK4_uc003ggo.1_Frame_Shift_Del_p.Q219fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.Q187fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.Q187fs	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393		NaN											NaN	NaN	NaN	NaN	NaN	7	371	---		---	---
COPS4	51138	broad.mit.edu	37	4	83978470	83978477	+	Frame_Shift_Del	DEL	CAATGAGC	CAATGAGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83978470_83978477delCAATGAGC	uc003hoa.2	+	6	763_770	c.624_631delCAATGAGC	c.(622-633)TACAATGAGCTCfs	p.Y208fs	COPS4_uc003hob.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijw.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijx.2_Frame_Shift_Del_p.Y208fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	208_211	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				CACAAAGGTACAATGAGCTCTCTTACAA	0.365		NaN											NaN	NaN	NaN	NaN	NaN	33	48	---		---	---
FBN2	2201	broad.mit.edu	37	5	127647056	127647056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:127647056delA	uc003kuu.2	-	39	5449	c.5010delT	c.(5008-5010)TTTfs	p.F1670fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1670	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAAGCTCCCAAAAGTGTTGA	0.483		NaN											NaN	NaN	NaN	NaN	NaN	12	44	---		---	---
BAT2	7916	broad.mit.edu	37	6	31602048	31602062	+	In_Frame_Del	DEL	GGGCTCTAAGCCTGA	GGGCTCTAAGCCTGA	-	rs139245110		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31602048_31602062delGGGCTCTAAGCCTGA	uc003nvb.3	+	19	5004_5018	c.4755_4769delGGGCTCTAAGCCTGA	c.(4753-4770)TTGGGCTCTAAGCCTGAG>TTG	p.GSKPE1586del	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_In_Frame_Del_p.GSKPE1586del	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1586_1590	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGC	0.512		NaN											NaN	NaN	NaN	NaN	NaN	61	509	---		---	---
LAMA2	3908	broad.mit.edu	37	6	129674397	129674412	+	Frame_Shift_Del	DEL	CCCTGTGACCCTGTCA	CCCTGTGACCCTGTCA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129674397_129674412delCCCTGTGACCCTGTCA	uc003qbn.2	+	32	4717_4732	c.4612_4627delCCCTGTGACCCTGTCA	c.(4612-4629)CCCTGTGACCCTGTCACAfs	p.P1538fs	LAMA2_uc003qbo.2_Frame_Shift_Del_p.P1538fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1538_1543	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG	0.583		NaN											NaN	NaN	NaN	NaN	NaN	23	62	---		---	---
ZNF804B	219578	broad.mit.edu	37	7	88965470	88965471	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:88965470_88965471insATCC	uc011khi.1	+	4	3712_3713	c.3174_3175insATCC	c.(3172-3177)GAAATCfs	p.E1058fs		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1058_1059						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAATTAGTGAAATCCAACCTTT	0.356		NaN								HNSCC(36;0.09)			NaN	NaN	NaN	NaN	NaN	24	93	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44969394	44969418	+	Frame_Shift_Del	DEL	AAGATTGTGCACGAAAAACAAGCGG	AAGATTGTGCACGAAAAACAAGCGG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08			AAGATTGTGCACGAAAAACAAGCGG	-	AAGATTGTGCACGAAAAACAAGCGG	AAGATTGTGCACGAAAAACAAGCGG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG	uc004dge.3	+	28	4451_4475	c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG	c.(4075-4101)CAAGATTGTGCACGAAAAACAAGCGGAfs	p.Q1359fs	KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q1411fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q1314fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q1366fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.Q1063fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.Q998fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1359_1367					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GTACATTGCCAAGATTGTGCACGAAAAACAAGCGGAAACTTGGAA	0.364		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	24	36	---	Valid	---	---
TCHHL1	126637	broad.mit.edu	37	1	152059043	152059044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152059043_152059044insG	uc001ezo.1	-	3	1179_1180	c.1114_1115insC	c.(1114-1116)CTGfs	p.L372fs		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	372							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGGACTGGCAGGTCCTTTGTT	0.465		NaN											NaN	NaN	NaN	NaN	NaN	7	949	---		---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:154245864_154245866delGAA	uc001fes.2	+	2	267_269	c.106_108delGAA	c.(106-108)GAAdel	p.E40del	HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522		NaN							Kostmann_syndrome				NaN	NaN	NaN	NaN	NaN	9	176	---		---	---
NXF1	10482	broad.mit.edu	37	11	62560155	62560157	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:62560155_62560157delGTT	uc001nvf.1	-	20	1913_1915	c.1777_1779delAAC	c.(1777-1779)AACdel	p.N593del	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	593	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TGTAGTCCCAGTTGTTGTCCTGA	0.384		NaN											NaN	NaN	NaN	NaN	NaN	22	67	---		---	---
NCAM1	4684	broad.mit.edu	37	11	113102975	113102975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:113102975delC	uc009yyq.1	+	12	1742	c.1048delC	c.(1048-1050)CCCfs	p.P350fs		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	442	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTTGCCTATCCCAGTGCCAC	0.517		NaN											NaN	NaN	NaN	NaN	NaN	17	36	---		---	---
MLL2	8085	broad.mit.edu	37	12	49427929	49427933	+	Frame_Shift_Del	DEL	CGGCC	CGGCC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08			CGGCC	-	CGGCC	CGGCC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:49427929_49427933delCGGCC	uc001rta.3	-	38	10657_10661	c.10657_10661delGGCCG	c.(10657-10662)GGCCGTfs	p.G3553fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3553_3554	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGGGAACTCACGGCCAGCTTTTTTG	0.541		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	38	60	---	Valid	---	---
FANCM	57697	broad.mit.edu	37	14	45623913	45623913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45623913delA	uc001wwd.3	+	7	1296	c.1197delA	c.(1195-1197)TCAfs	p.S399fs	FANCM_uc001wwc.2_Frame_Shift_Del_p.S399fs|FANCM_uc010anf.2_Frame_Shift_Del_p.S373fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.S4fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	399					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TGACACGGTCAAAAAATGAAC	0.269		NaN						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				NaN	NaN	NaN	NaN	NaN	34	39	---		---	---
UFSP2	55325	broad.mit.edu	37	4	186329155	186329156	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:186329155_186329156insTG	uc003ixo.2	-	9	1172_1173	c.1055_1056insCA	c.(1054-1056)GGAfs	p.G352fs	UFSP2_uc003ixn.2_Frame_Shift_Ins_p.G227fs|UFSP2_uc003ixq.2_Frame_Shift_Ins_p.G242fs|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	352						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CCTCAATAGATCCAATCCATTG	0.391		NaN											NaN	NaN	NaN	NaN	NaN	23	45	---		---	---
UBLCP1	134510	broad.mit.edu	37	5	158702181	158702183	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:158702181_158702183delATT	uc003lxq.2	+	8	937_939	c.611_613delATT	c.(610-615)AATTAT>AAT	p.Y205del		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase	205	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAATGCAAATTATAAGATTAC	0.325		NaN											NaN	NaN	NaN	NaN	NaN	24	61	---		---	---
POM121	9883	broad.mit.edu	37	7	72410394	72410395	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:72410394_72410395delAC	uc003twk.2	+	8	1450_1451	c.1450_1451delAC	c.(1450-1452)ACAfs	p.T484fs	POM121_uc003twj.2_Frame_Shift_Del_p.T219fs|POM121_uc010lam.1_Frame_Shift_Del_p.T219fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	484	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				AGCTGCAGATACAACCCCAAGG	0.48		NaN											NaN	NaN	NaN	NaN	NaN	115	181	---		---	---
MYST3	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:41798420_41798422delCTC	uc010lxb.2	-	16	3521_3523	c.2977_2979delGAG	c.(2977-2979)GAGdel	p.E993del	MYST3_uc010lxc.2_In_Frame_Del_p.E993del|MYST3_uc003xon.3_In_Frame_Del_p.E993del	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GGCTTTCCGGCTCCTCCTCCTCC	0.567		NaN											NaN	NaN	NaN	NaN	NaN	10	434	---		---	---
EIF2C2	27161	broad.mit.edu	37	8	141549532	141549532	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:141549532delC	uc003yvn.2	-	16	2096	c.2056delG	c.(2056-2058)GCCfs	p.A686fs	EIF2C2_uc010men.2_Frame_Shift_Del_p.A609fs|EIF2C2_uc010meo.2_Frame_Shift_Del_p.A686fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	686	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCACGGATGGCCAGCAACTCG	0.572		NaN											NaN	NaN	NaN	NaN	NaN	25	112	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr1:27105930_27105931insG	uc001bmv.1	+	20	5914_5915	c.5541_5542insG	c.(5539-5544)GGTGGGfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1847_1848					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	70	100	---		---	---
SLC24A1	9187	broad.mit.edu	37	15	65918024	65918025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr15:65918024_65918025insT	uc010ujf.1	+	2	1893_1894	c.1606_1607insT	c.(1606-1608)ATTfs	p.I536fs	SLC24A1_uc010ujd.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010uje.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujg.1_Frame_Shift_Ins_p.I536fs|SLC24A1_uc010ujh.1_Frame_Shift_Ins_p.I536fs	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	536	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TGTGTTCAACATTCTCTTTGTC	0.525		NaN											NaN	NaN	NaN	NaN	NaN	69	150	---		---	---
NDE1	54820	broad.mit.edu	37	16	15790770	15790770	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:15790770delG	uc002ddt.1	+	7	1043	c.1000delG	c.(1000-1002)GGCfs	p.G334fs	NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	Error:Variant_position_missing_in_Q9NXR1_after_alignment					cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						GCCTGCCCCAGGCAAGAGACA	0.552		NaN											NaN	NaN	NaN	NaN	NaN	18	27	---		---	---
CNOT1	23019	broad.mit.edu	37	16	58619315	58619316	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr16:58619315_58619316delCT	uc002env.2	-	8	1025_1026	c.732_733delAG	c.(730-735)GGAGGGfs	p.G244fs	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.G244fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.G244fs|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	244_245					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTAGCTACCCCTCCGGAATCAG	0.465		NaN											NaN	NaN	NaN	NaN	NaN	62	169	---		---	---
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr17:56056586_56056587insTGT	uc002ivf.1	-	5	1207_1208	c.1064_1065insACA	c.(1063-1065)CAT>CAACAT	p.354_355insQ	VEZF1_uc010dcn.1_In_Frame_Ins_p.204_205insQ	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	354_355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						AGCTTGTCACAtgttgttgttg	0.317		NaN											NaN	NaN	NaN	NaN	NaN	7	480	---		---	---
DOCK6	57572	broad.mit.edu	37	19	11348960	11348960	+	Frame_Shift_Del	DEL	G	G	-	rs12609039	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:11348960delG	uc002mqs.3	-	15	1705	c.1664delC	c.(1663-1665)CCGfs	p.P555fs	DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Intron	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	555	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GAGGCTGTGCGGGTACACGTA	0.647		NaN											NaN	NaN	NaN	NaN	NaN	22	48	---		---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr19:35940788_35940790delCTG	uc002nzg.2	+	2	252_254	c.172_174delCTG	c.(172-174)CTGdel	p.L62del	FFAR2_uc010eea.2_In_Frame_Del_p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	62	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645		NaN											NaN	NaN	NaN	NaN	NaN	7	135	---		---	---
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr6:170871013_170871014insCAG	uc003qxt.2	+	3	421_422	c.189_190insCAG	c.(187-192)insCAG	p.95_96insQ	TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	95_96					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.183		NaN											NaN	NaN	NaN	NaN	NaN	34	84	---		---	---
MLL3	58508	broad.mit.edu	37	7	151873966	151873967	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08			-	AG	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr7:151873966_151873967insAG	uc003wla.2	-	38	8790_8791	c.8571_8572insCT	c.(8569-8574)TCTGCTfs	p.S2857fs	MLL3_uc003wkz.2_Frame_Shift_Ins_p.S1918fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.S366fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2857_2858					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTGAGTGAGCAGAAGCCTGTG	0.411		NaN	N		medulloblastoma								NaN	NaN	NaN	NaN	NaN	48	119	---	Valid	---	---
OSR2	116039	broad.mit.edu	37	8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr8:99961401_99961402insG	uc003yir.2	+	2	756_757	c.221_222insG	c.(220-222)GCGfs	p.A74fs	OSR2_uc010mbn.2_Frame_Shift_Ins_p.A74fs|OSR2_uc003yiq.2_Frame_Shift_Ins_p.A74fs|OSR2_uc011lgx.1_Frame_Shift_Ins_p.A195fs	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	74					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649		NaN											NaN	NaN	NaN	NaN	NaN	8	510	---		---	---
C9orf150	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs139315731	by1000genomes	TCGA-DK-A1AE-01A-11D-A13W-08	TCGA-DK-A1AE-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abd2d959-d5ed-4eb3-9759-67eb1aa23325	3ddb747a-54ce-430d-9b95-efb61ff3d1bf	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.2	+	1	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	58_59	Gly-rich.										0				GBM - Glioblastoma multiforme(1;1.64e-13)		gcggtggtggtggcggcggcgg	0.505		NaN											NaN	NaN	NaN	NaN	NaN	10	11	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44938507	44938507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AF-01A-11D-A13W-08	TCGA-DK-A1AF-10A-01D-A13W-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbdcd7f9-1901-4e90-8e3c-71b05dc96da1	303b1fd2-d7a6-4166-a8a9-6f4677850cdd	g.chrX:44938507delA	uc004dge.3	+	20	3430	c.3055delA	c.(3055-3057)AAAfs	p.K1019fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.K985fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.K1071fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.K974fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.K1026fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.K723fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.K658fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1019					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGGAACAAAGAAAATCTGGCA	0.398		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	7	106	---	Valid	---	---
CASZ1	54897	broad.mit.edu	37	1	10714109	10714109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:10714109delG	uc001aro.2	-	11	2325	c.2005delC	c.(2005-2007)CACfs	p.H669fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.H669fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.H693fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	669	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGATGCAGTGGAAGTGGTTG	0.607		NaN											NaN	NaN	NaN	NaN	NaN	12	249	---		---	---
FBXO44	93611	broad.mit.edu	37	1	11721281	11721282	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:11721281_11721282insC	uc001asm.2	+	6	845_846	c.719_720insC	c.(718-720)GGCfs	p.G240fs	FBXO44_uc001ask.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc001asl.2_Frame_Shift_Ins_p.G240fs|FBXO44_uc001asn.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc010oar.1_Frame_Shift_Ins_p.R230fs|FBXO44_uc010oas.1_Frame_Shift_Ins_p.G100fs|FBXO6_uc001aso.2_5'Flank	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	240	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGTACGGCCCGAGGGTCA	0.634		NaN											NaN	NaN	NaN	NaN	NaN	7	275	---		---	---
GATA3	2625	broad.mit.edu	37	10	8115929	8115929	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:8115929delA	uc001ika.2	+	6	1832	c.1275delA	c.(1273-1275)CCAfs	p.P425fs	GATA3_uc001ijz.2_Frame_Shift_Del_p.P426fs	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	425				P -> A (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TGCACCCGCCATCCAGCCTGT	0.662		NaN	F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						NaN	NaN	NaN	NaN	NaN	47	106	---		---	---
SSH3	54961	broad.mit.edu	37	11	67077296	67077312	+	Frame_Shift_Del	DEL	CACAGTGCTGGCCTATG	CACAGTGCTGGCCTATG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:67077296_67077312delCACAGTGCTGGCCTATG	uc001okj.2	+	12	1444_1460	c.1266_1282delCACAGTGCTGGCCTATG	c.(1264-1284)GCCACAGTGCTGGCCTATGCCfs	p.A422fs	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Frame_Shift_Del_p.A276fs	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	422_428	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCAGCGGCCACAGTGCTGGCCTATGCCATGAAGCA	0.664		NaN											NaN	NaN	NaN	NaN	NaN	58	247	---		---	---
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:59182564_59182565delCT	uc002afp.2	-	15	2082_2083	c.1994_1995delAG	c.(1993-1995)GAGfs	p.E665fs	SLTM_uc002afn.2_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.2_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.2_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	665	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTCTAGGCGCTCTCTCTCTCT	0.475		NaN											NaN	NaN	NaN	NaN	NaN	7	202	---		---	---
NPIP	9284	broad.mit.edu	37	16	15045471	15045471	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:15045471delG	uc002dcy.3	+	8	643	c.643_splice	c.e8-1	p.V215_splice	NPIP_uc002dcx.3_Splice_Site	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						TGGCCCTACAGGTCAGAATGG	0.483		NaN											NaN	NaN	NaN	NaN	NaN	17	4	---		---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:38882864_38882866delCCT	uc002oim.2	+	3	363_365	c.359_361delCCT	c.(358-363)CCCTCC>CCC	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.537		NaN											NaN	NaN	NaN	NaN	NaN	7	109	---		---	---
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs61734492	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54723027_54723029delCGT	uc002qef.1	-	8	1506_1508	c.1395_1397delACG	c.(1393-1398)CGACGT>CGT	p.465_466RR>R	LILRB3_uc002qee.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeh.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qek.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc010erh.1_In_Frame_Del_p.482_483RR>R|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qep.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeq.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_In_Frame_Del_p.465_466RR>R	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	465_466	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.498		NaN											NaN	NaN	NaN	NaN	NaN	11	103	---		---	---
CELSR1	9620	broad.mit.edu	37	22	46790119	46790120	+	Frame_Shift_Ins	INS	-	-	G	rs142032661	by1000genomes	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:46790119_46790120insG	uc003bhw.1	-	14	5883_5884	c.5883_5884insC	c.(5881-5886)CCCGTCfs	p.P1961fs	CELSR1_uc011arc.1_Frame_Shift_Ins_p.P282fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1961_1962	Extracellular (Potential).|EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCCACAGACGGGGTTCCCCC	0.569		NaN											NaN	NaN	NaN	NaN	NaN	8	139	---		---	---
MICALL2	79778	broad.mit.edu	37	7	1474248	1474249	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:1474248_1474249insT	uc003skj.3	-	17	2845_2846	c.2698_2699insA	c.(2698-2700)AGCfs	p.S900fs	MICALL2_uc003skh.3_Frame_Shift_Ins_p.K107fs|MICALL2_uc003ski.3_Frame_Shift_Ins_p.K385fs	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	900						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGAGGGGCTGCTTTTGCTTTTT	0.639		NaN											NaN	NaN	NaN	NaN	NaN	7	238	---		---	---
PSIP1	11168	broad.mit.edu	37	9	15479597	15479609	+	Frame_Shift_Del	DEL	CGTCCTCTTTTAG	CGTCCTCTTTTAG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:15479597_15479609delCGTCCTCTTTTAG	uc003zlv.3	-	7	863_875	c.533_545delCTAAAAGAGGACG	c.(532-546)CCTAAAAGAGGACGAfs	p.P178fs	PSIP1_uc003zlw.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.P169fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.P178fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	178_182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCTGCAGGTCGTCCTCTTTTAGGACTCACTTT	0.362		NaN											NaN	NaN	NaN	NaN	NaN	10	17	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44950110	44950110	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:44950110delG	uc004dge.3	+	26	4253	c.3878_splice	c.e26+1	p.K1293_splice	KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAATGATTAAGTAAGTCTTTT	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	39	5	---	Valid	---	---
TCHH	7062	broad.mit.edu	37	1	152081768	152081768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:152081768delT	uc001ezp.2	-	2	3925	c.3925delA	c.(3925-3927)AGGfs	p.R1309fs	TCHH_uc009wne.1_Frame_Shift_Del_p.R1309fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1309	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGCGCCTTTTGGCTTCC	0.547		NaN											NaN	NaN	NaN	NaN	NaN	7	544	---		---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr1:154917508_154917510delGGT	uc001ffr.2	-	11	2245_2247	c.2186_2188delACC	c.(2185-2190)CACCGG>CGG	p.H729del	PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64		NaN											NaN	NaN	NaN	NaN	NaN	7	254	---		---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr19:35773520_35773522delCTC	uc002nyw.2	+	1	111_113	c.40_42delCTC	c.(40-42)CTCdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide preproprotein	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64		NaN											NaN	NaN	NaN	NaN	NaN	8	415	---		---	---
PHF7	51533	broad.mit.edu	37	3	52456270	52456291	+	Frame_Shift_Del	DEL	TCTCAGACTTATATCAGCGCTA	TCTCAGACTTATATCAGCGCTA	-			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA	uc003ddy.2	+	9	1519_1540	c.713_734delTCTCAGACTTATATCAGCGCTA	c.(712-735)TTCTCAGACTTATATCAGCGCTATfs	p.F238fs	PHF7_uc003ddz.2_Intron	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	238_245						nucleus	zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCAGGGGCTTTCTCAGACTTATATCAGCGCTATCAGCACTGT	0.495		NaN											NaN	NaN	NaN	NaN	NaN	9	129	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2HX-01A-12D-A18F-08	TCGA-DK-A2HX-10A-01D-A18F-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f0d416-2102-43ea-9cf1-465c37f9642a	50c589ea-8019-4a0d-92c8-afe1a1e737de	g.chr6:36651987_36651988insT	uc003omm.3	+	2	231_232	c.109_110insT	c.(109-111)CTAfs	p.L37fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L71fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L37fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L37fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	37	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CTGTGATGCGCTAATGGCGGGC	0.663		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	12	46	---	Valid	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:22838561_22838563delAAG	uc001bft.2	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)AAGdel	p.K803del	ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517		NaN											NaN	NaN	NaN	NaN	NaN	7	115	---		---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:181680102_181680103delAG	uc001gow.2	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)AAAGAGfs	p.K356fs	CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	356_357	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AATTTGCCAAAGAGAGAGAGAG	0.51		NaN											NaN	NaN	NaN	NaN	NaN	9	85	---		---	---
PIK3C2B	5287	broad.mit.edu	37	1	204400888	204400889	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr1:204400888_204400889insA	uc001haw.2	-	29	4667_4668	c.4188_4189insT	c.(4186-4191)ACTCACfs	p.T1396fs	PIK3C2B_uc010pqv.1_Frame_Shift_Ins_p.T1368fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1396_1397	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGGCCTCGTGAGTGTTCTCTC	0.535		NaN									OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	43	171	---		---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr10:15254987_15254989delTCA	uc001iob.2	-	8	2605_2607	c.2598_2600delTGA	c.(2596-2601)GATGAC>GAC	p.866_867DD>D		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	866_867	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TTCTCCTTGGTCATCATCATCAT	0.571		NaN											NaN	NaN	NaN	NaN	NaN	7	292	---		---	---
LRP1	4035	broad.mit.edu	37	12	57606238	57606239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr12:57606238_57606239insG	uc001snd.2	+	89	14001_14002	c.13535_13536insG	c.(13534-13536)ATGfs	p.M4512fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4512	Cytoplasmic (Potential).|Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACTCTACATGGGGGGCCATG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	19	1896	---		---	---
SLC25A30	253512	broad.mit.edu	37	13	45971416	45971417	+	In_Frame_Ins	INS	-	-	TAA			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr13:45971416_45971417insTAA	uc001vag.2	-	9	947_948	c.810_811insTTA	c.(808-813)insTTA	p.270_271insL	SLC25A30_uc010tfs.1_In_Frame_Ins_p.195_196insL|SLC25A30_uc001vah.2_In_Frame_Ins_p.195_196insL|SLC25A30_uc010tft.1_In_Frame_Ins_p.219_220insL|SLC25A30_uc001vaf.2_3'UTR	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	270_271	Solcar 3.|Helical; Name=6; (Potential).				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GGACCAAGTCTCAACCAATTTG	0.307		NaN											NaN	NaN	NaN	NaN	NaN	40	78	---		---	---
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr16:67325657_67325658insG	uc002esu.2	-	13	2352_2353	c.2301_2302insC	c.(2299-2304)CCCGTGfs	p.P767fs	KCTD19_uc002est.2_Frame_Shift_Ins_p.P539fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P510fs	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	767_768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574		NaN											NaN	NaN	NaN	NaN	NaN	9	105	---		---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A2I1-01A-11D-A17V-08	TCGA-DK-A2I1-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f350676a-e308-42fe-8297-9d18ba7027b1	bba7b385-f707-4654-ba9e-cd3bbebf4859	g.chr5:41181559_41181560insC	uc003jmk.2	-	7	1038_1039	c.828_829insG	c.(826-831)GGGAGCfs	p.G276fs	C6_uc003jml.1_Frame_Shift_Ins_p.G276fs	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	276_277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376		NaN											NaN	NaN	NaN	NaN	NaN	30	62	---		---	---
SMARCE1	6605	broad.mit.edu	37	17	38792242	38792247	+	In_Frame_Del	DEL	TGTCTC	TGTCTC	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38792242_38792247delTGTCTC	uc002hux.2	-	7	601_606	c.477_482delGAGACA	c.(475-483)CAGAGACAA>CAA	p.159_161QRQ>Q	SMARCE1_uc010wff.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfg.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc002huy.2_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfh.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_uc010wfi.1_In_Frame_Del_p.141_143QRQ>Q|SMARCE1_uc002huz.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_uc010wfj.1_In_Frame_Del_p.141_143QRQ>Q	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	159_161					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				CATGCGAGATTGTCTCTGTCGACTTT	0.422		NaN											NaN	NaN	NaN	NaN	NaN	16	99	---		---	---
ZNF180	7733	broad.mit.edu	37	19	44982133	44982134	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:44982133_44982134delCT	uc002ozf.3	-	5	846_847	c.564_565delAG	c.(562-567)AGAGTCfs	p.R188fs	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Frame_Shift_Del_p.R161fs|ZNF180_uc002ozg.3_Frame_Shift_Del_p.R187fs|ZNF180_uc010ejm.2_Frame_Shift_Del_p.R163fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	188_189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				CTTTTGCAGACTCTCTCATGAA	0.391		NaN											NaN	NaN	NaN	NaN	NaN	7	83	---		---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154680586_154680588delGCT	uc001ffp.2	-	8	2374_2376	c.2060_2062delAGC	c.(2059-2064)CAGCTC>CTC	p.Q687del	KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	692	Poly-Gln.					integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.64		NaN											NaN	NaN	NaN	NaN	NaN	7	174	---		---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197472	48197473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48197472_48197473insC	uc002phh.3	+	8	2578_2579	c.2384_2385insC	c.(2383-2385)CACfs	p.H795fs	GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.H553fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	795							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCCCCACACCCCACCCGGC	0.748		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
C2orf16	84226	broad.mit.edu	37	2	27804926	27804927	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27804926_27804927insTC	uc002rkz.3	+	1	5538_5539	c.5487_5488insTC	c.(5485-5490)AGATCTfs	p.R1829fs	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1829_1830	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGGAGATCTCACAGGTC	0.55		NaN											NaN	NaN	NaN	NaN	NaN	11	49	---		---	---
EP300	2033	broad.mit.edu	37	22	41560132	41560133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41560132_41560133insG	uc003azl.3	+	22	4199_4200	c.3804_3805insG	c.(3802-3807)GCTGGAfs	p.A1268fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1268_1269					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TCTGGCCTGCTGGGTAAGTCTT	0.371		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				NaN	NaN	NaN	NaN	NaN	20	164	---	Valid	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652207	36652208	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:36652207_36652208insT	uc003omm.3	+	2	451_452	c.329_330insT	c.(328-330)CATfs	p.H110fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.H144fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.H110fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.H110fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	110					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GAGGAAGACCATGTGGACCTGT	0.658		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	14	16	---	Valid	---	---
EZR	7430	broad.mit.edu	37	6	159210405	159210406	+	Splice_Site	INS	-	-	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:159210405_159210406insA	uc003qrt.3	-	2	228	c.13_splice	c.e2-1	p.I5_splice	EZR_uc011efs.1_Splice_Site_p.I5_splice|EZR_uc003qru.3_Splice_Site_p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin						actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GACATTGATCTGAAAAACAGAA	0.426		NaN											NaN	NaN	NaN	NaN	NaN	8	40	---		---	---
KDM5D	8284	broad.mit.edu	37	Y	21868143	21868143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:21868143delT	uc004fug.2	-	27	4646	c.4358delA	c.(4357-4359)AACfs	p.N1453fs	KDM5D_uc011naz.1_Frame_Shift_Del_p.N1484fs|KDM5D_uc010nwy.2_Frame_Shift_Del_p.N1396fs|KDM5D_uc004fuf.2_Frame_Shift_Del_p.N628fs	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	1453					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)	ATTCTCAACGTTTCTACCCTG	0.512		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PADI2	11240	broad.mit.edu	37	1	17402183	17402190	+	Frame_Shift_Del	DEL	GGGGATGG	GGGGATGG	-	rs146438183	byFrequency	TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr1:17402183_17402190delGGGGATGG	uc001baf.2	-	12	1521_1528	c.1439_1446delCCATCCCC	c.(1438-1446)CCCATCCCCfs	p.P480fs	PADI2_uc010ocm.1_Frame_Shift_Del_p.P364fs	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	480_482					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTTTGTGCCGGGGATGGGGACAAAGGA	0.591		NaN									OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	36	52	---		---	---
CSTF2T	23283	broad.mit.edu	37	10	53459010	53459012	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr10:53459010_53459012delCTC	uc001jjp.2	-	1	344_346	c.298_300delGAG	c.(298-300)GAGdel	p.E100del	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	100					mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGCTCTTTAACTCCTCCTTATTC	0.557		NaN											NaN	NaN	NaN	NaN	NaN	21	107	---		---	---
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-	rs61747093		TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr11:1577819_1577820delCG	uc001lts.2	-	7	1934_1935	c.1806_1807delCG	c.(1804-1809)CGCGGCfs	p.R602fs		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	602_603					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
MTUS2	23281	broad.mit.edu	37	13	30077186	30077188	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr13:30077186_30077188delAGA	uc001usl.3	+	14	4041_4043	c.3983_3985delAGA	c.(3982-3987)GAGAAG>GAG	p.K1330del	MTUS2_uc001usm.3_In_Frame_Del_p.K299del|MTUS2_uc010aau.2_In_Frame_Del_p.K209del|MTUS2_uc010tdq.1_In_Frame_Del_p.K82del	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1320	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GAAACCCAGGAGAAGAAGAGATT	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	60	---		---	---
TMC7	79905	broad.mit.edu	37	16	19073098	19073101	+	Splice_Site	DEL	AGGA	AGGA	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr16:19073098_19073101delAGGA	uc002dfq.2	+	16	2237	c.2107_splice	c.e16-1	p.E703_splice	TMC7_uc010vap.1_Splice_Site_p.E593_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a							integral to membrane				skin(2)|ovary(1)	3						ATTATTTTTTAGGAAAGTCGTGAC	0.377		NaN											NaN	NaN	NaN	NaN	NaN	8	8	---		---	---
KIDINS220	57498	broad.mit.edu	37	2	8919881	8919894	+	Frame_Shift_Del	DEL	TCTGAGTGAAGCTG	TCTGAGTGAAGCTG	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:8919881_8919894delTCTGAGTGAAGCTG	uc002qzc.2	-	18	2462_2475	c.2280_2293delCAGCTTCACTCAGA	c.(2278-2295)GACAGCTTCACTCAGAATfs	p.D760fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.D526fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.D718fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.D761fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	760_765	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT	0.458		NaN											NaN	NaN	NaN	NaN	NaN	13	39	---		---	---
USP39	10713	broad.mit.edu	37	2	85852670	85852684	+	In_Frame_Del	DEL	GAAGCCCACTTTCAC	GAAGCCCACTTTCAC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:85852670_85852684delGAAGCCCACTTTCAC	uc002sqe.2	+	5	615_629	c.579_593delGAAGCCCACTTTCAC	c.(577-594)TTGAAGCCCACTTTCACA>TTA	p.KPTFT194del	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_In_Frame_Del_p.KPTFT116del|USP39_uc010ysv.1_In_Frame_Del_p.KPTFT91del|USP39_uc010fgn.1_In_Frame_Del_p.KPTFT194del|USP39_uc002sqf.2_In_Frame_Del_p.KPTFT194del|USP39_uc002sqg.2_In_Frame_Del_p.KPTFT194del|USP39_uc010fgo.2_In_Frame_Del_p.KPTFT194del	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	194_198					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA	0.391		NaN											NaN	NaN	NaN	NaN	NaN	9	80	---		---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr2:98427639delT	uc002syh.3	-	18	2149	c.1920delA	c.(1918-1920)AAAfs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	640						integral to membrane				ovary(4)|central_nervous_system(2)	6						TCCCCTCTAATTTTTTTGCAG	0.393		NaN											NaN	NaN	NaN	NaN	NaN	9	442	---		---	---
SLC22A1	6580	broad.mit.edu	37	6	160560699	160560713	+	In_Frame_Del	DEL	TGCTCTATCAGGGGC	TGCTCTATCAGGGGC	-			TCGA-DK-A2I6-01A-12D-A18F-08	TCGA-DK-A2I6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a755af-ca00-4116-8a32-0984dbfb1585	985f656f-21ff-4dad-8ff3-4678322e5b31	g.chr6:160560699_160560713delTGCTCTATCAGGGGC	uc003qtc.2	+	7	1181_1195	c.1076_1090delTGCTCTATCAGGGGC	c.(1075-1092)GTGCTCTATCAGGGGCTC>GTC	p.LYQGL360del	SLC22A1_uc003qtd.2_In_Frame_Del_p.LYQGL360del	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	360_364	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA	0.516		NaN											NaN	NaN	NaN	NaN	NaN	11	30	---		---	---
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:226924876_226924884delCTGCCGCTG	uc010pvo.1	-	2	616_624	c.276_284delCAGCGGCAG	c.(274-285)AGCAGCGGCAGT>AGT	p.92_95SSGS>S	ITPKB_uc001hqh.2_In_Frame_Del_p.92_95SSGS>S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	92_95							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.617		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
SF1	7536	broad.mit.edu	37	11	64533611	64533631	+	Splice_Site	DEL	GGTGGTAGTCGTCGTATCTGG	GGTGGTAGTCGTCGTATCTGG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:64533611_64533631delGGTGGTAGTCGTCGTATCTGG	uc001obb.1	-	13	1960	c.1583_splice	c.e13-1	p.N528_splice	SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Splice_Site_p.N502_splice|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Splice_Site_p.N528_splice|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1						nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						CAGCGCTCGTGGTGGTAGTCGTCGTATCTGGGGTGGTAAAG	0.67		NaN											NaN	NaN	NaN	NaN	NaN	11	62	---		---	---
DUSP6	1848	broad.mit.edu	37	12	89743323	89743341	+	Splice_Site	DEL	TTGCCCCGGGCTTCATCTG	TTGCCCCGGGCTTCATCTG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:89743323_89743341delTTGCCCCGGGCTTCATCTG	uc001tay.2	-	3	1319	c.839_splice	c.e3-1	p.D280_splice	DUSP6_uc001taz.2_Splice_Site_p.D134_splice	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a						dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						ACCACAGTTCTTGCCCCGGGCTTCATCTGTGAACACAAA	0.425		NaN											NaN	NaN	NaN	NaN	NaN	14	59	---		---	---
PCMTD2	55251	broad.mit.edu	37	20	62895852	62895854	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:62895852_62895854delCTT	uc002yil.3	+	3	578_580	c.378_380delCTT	c.(376-381)GACTTC>GAC	p.F128del	PCMTD2_uc002yim.3_In_Frame_Del_p.F128del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	128						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAAACTGGACTTCTTCATCAGA	0.355		NaN											NaN	NaN	NaN	NaN	NaN	8	74	---		---	---
HHATL	57467	broad.mit.edu	37	3	42740315	42740317	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:42740315_42740317delAGC	uc003clw.2	-	6	513_515	c.366_368delGCT	c.(364-369)CTGCTT>CTT	p.122_123LL>L	HHATL_uc003clx.2_In_Frame_Del_p.122_123LL>L	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	122_123					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACAGTGACCAAGCAGCAGCAGCA	0.621		NaN											NaN	NaN	NaN	NaN	NaN	7	139	---		---	---
OR2B3	442184	broad.mit.edu	37	6	29054200	29054200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:29054200delG	uc003nlx.2	-	1	891	c.826delC	c.(826-828)CTCfs	p.L276fs		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						CCATAGAAGAGGGAAACCATC	0.433		NaN											NaN	NaN	NaN	NaN	NaN	7	35	---		---	---
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:20880268_20880270delGAG	uc001bdj.2	+	1	1337_1339	c.802_804delGAG	c.(802-804)GAGdel	p.E272del		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.567		NaN											NaN	NaN	NaN	NaN	NaN	7	11	---		---	---
GRHL3	57822	broad.mit.edu	37	1	24663111	24663112	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr1:24663111_24663112insA	uc001biy.2	+	4	467_468	c.421_422insA	c.(421-423)GAGfs	p.E141fs	GRHL3_uc001bix.2_Frame_Shift_Ins_p.E136fs|GRHL3_uc001biz.2_Frame_Shift_Ins_p.E43fs	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	136					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATGAGCTTGGAGGGGGCCTTG	0.579		NaN											NaN	NaN	NaN	NaN	NaN	27	85	---		---	---
PVRL1	5818	broad.mit.edu	37	11	119549465	119549466	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr11:119549465_119549466insGA	uc001pwv.2	-	2	261_262	c.89_90insTC	c.(88-90)TCCfs	p.S30fs	PVRL1_uc001pwu.1_Frame_Shift_Ins_p.S30fs|PVRL1_uc001pww.2_Frame_Shift_Ins_p.S30fs	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	30					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGACCACCTGGGAGTGGACGCC	0.594		NaN											NaN	NaN	NaN	NaN	NaN	6	12	---		---	---
DIS3	22894	broad.mit.edu	37	13	73337684	73337684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr13:73337684delT	uc001vix.3	-	16	2406	c.2032delA	c.(2032-2034)ATTfs	p.I678fs	DIS3_uc001viy.3_Frame_Shift_Del_p.I648fs|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	678					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTCATGAATTTTTTTTGCA	0.358		NaN								Multiple Myeloma(4;0.011)			NaN	NaN	NaN	NaN	NaN	7	76	---		---	---
CX3CL1	6376	broad.mit.edu	37	16	57416702	57416708	+	Frame_Shift_Del	DEL	ACCATGG	ACCATGG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr16:57416702_57416708delACCATGG	uc002eli.2	+	3	1019_1025	c.952_958delACCATGG	c.(952-960)ACCATGGACfs	p.T318fs		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	318_320	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CATCCATGCCACCATGGACCCCCAGAG	0.662		NaN											NaN	NaN	NaN	NaN	NaN	17	72	---		---	---
NKG7	4818	broad.mit.edu	37	19	51875242	51875244	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr19:51875242_51875244delAGG	uc002pwj.2	-	3	560_562	c.389_391delCCT	c.(388-393)TCCTGG>TGG	p.S130del	CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_In_Frame_Del_p.S95del	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	130						integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGAAGGACCAGGAGAAGAAGGT	0.611		NaN											NaN	NaN	NaN	NaN	NaN	26	74	---		---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr4:85611708_85611709delCA	uc003hpd.2	-	61	9721_9722	c.9313_9314delTG	c.(9313-9315)TGGfs	p.W3105fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3105	WD 1.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51		NaN											NaN	NaN	NaN	NaN	NaN	7	114	---		---	---
KDM3B	51780	broad.mit.edu	37	5	137722024	137722028	+	Frame_Shift_Del	DEL	GGACT	GGACT	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:137722024_137722028delGGACT	uc003lcy.1	+	7	1294_1298	c.1094_1098delGGACT	c.(1093-1098)AGGACTfs	p.R365fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.R21fs|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	365_366					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GAAAACGGCAGGACTCTGGTGGTGC	0.551		NaN											NaN	NaN	NaN	NaN	NaN	64	150	---		---	---
RUFY1	80230	broad.mit.edu	37	5	178977642	178977642	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr5:178977642delG	uc003mka.1	+	1	72	c.72delG	c.(70-72)CCGfs	p.P24fs		NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	24					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			agccggggccggggcCCGGGT	0.512		NaN								HNSCC(44;0.11)			NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
GDF6	392255	broad.mit.edu	37	8	97157110	97157111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr8:97157110_97157111insA	uc003yhp.2	-	2	1148_1149	c.1048_1049insT	c.(1048-1050)TCCfs	p.S350fs		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	350					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCGTAGCCTGGACTTCTTGCCG	0.515		NaN											NaN	NaN	NaN	NaN	NaN	8	13	---		---	---
NTRK2	4915	broad.mit.edu	37	9	87356831	87356837	+	Frame_Shift_Del	DEL	TAATTTA	TAATTTA	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chr9:87356831_87356837delTAATTTA	uc004aoa.1	+	12	2122_2128	c.1184_1190delTAATTTA	c.(1183-1191)GTAATTTATfs	p.V395fs	NTRK2_uc004anv.1_Frame_Shift_Del_p.V382fs|NTRK2_uc004any.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004anz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lsz.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011lta.1_Frame_Shift_Del_p.V395fs|NTRK2_uc004aob.1_Frame_Shift_Del_p.V395fs|NTRK2_uc011ltb.1_Frame_Shift_Del_p.V239fs	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	395_397	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TATCCTGATGTAATTTATGAAGGTAGC	0.309		NaN								TSP Lung(25;0.17)			NaN	NaN	NaN	NaN	NaN	7	19	---		---	---
DDX26B	203522	broad.mit.edu	37	X	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:134680317delT	uc004eyw.3	+	4	715	c.352delT	c.(352-354)TTTfs	p.F118fs		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	118	VWFA.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.269		NaN											NaN	NaN	NaN	NaN	NaN	34	41	---		---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DK-A3IL-01A-11D-A20D-08	TCGA-DK-A3IL-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4838b5a9-968c-4178-bffb-3fafe1f6dc09	c1da8eed-4919-4ba5-a735-3fba476c18a7	g.chrX:149984524_149984526delGTG	uc004fel.2	-	3	274_276	c.156_158delCAC	c.(154-159)ACCACA>ACA	p.52_53TT>T	CD99L2_uc004fek.2_5'Flank|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_In_Frame_Del_p.52_53TT>T	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	52_53	Extracellular (Potential).|Poly-Thr.				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552		NaN											NaN	NaN	NaN	NaN	NaN	7	457	---		---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:154917508_154917510delGGT	uc001ffr.2	-	11	2245_2247	c.2186_2188delACC	c.(2185-2190)CACCGG>CGG	p.H729del	PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64		NaN											NaN	NaN	NaN	NaN	NaN	7	214	---		---	---
MLEC	9761	broad.mit.edu	37	12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:121125148_121125150delCTG	uc001tyy.1	+	1	200_202	c.49_51delCTG	c.(49-51)CTGdel	p.L22del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	22					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						gctcctgcgactgctgctgctgc	0.517		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SLC25A30	253512	broad.mit.edu	37	13	45985521	45985522	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:45985521_45985522insC	uc001vag.2	-	2	176_177	c.39_40insG	c.(37-42)GGGCTGfs	p.G13fs	SLC25A30_uc010tfs.1_5'UTR|SLC25A30_uc001vah.2_5'UTR|SLC25A30_uc010tft.1_Intron	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	13_14	Solcar 1.|Helical; Name=1; (Potential).				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ATGGAGGCCAGCCCCCCGTACA	0.495		NaN											NaN	NaN	NaN	NaN	NaN	59	24	---		---	---
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7788146_7788148delGAG	uc002gjd.2	+	1	24_26	c.22_24delGAG	c.(22-24)GAGdel	p.E14del		NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.094		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
CRLF3	51379	broad.mit.edu	37	17	29112973	29112973	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:29112973delG	uc002hfr.3	-	7	1145	c.1036delC	c.(1036-1038)CTGfs	p.L346fs	CRLF3_uc010wbr.1_Frame_Shift_Del_p.L230fs	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	346					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm					0		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCCCGCTGCAGAGAGTCATAT	0.368		NaN											NaN	NaN	NaN	NaN	NaN	31	283	---		---	---
USP25	29761	broad.mit.edu	37	21	17250653	17250653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr21:17250653delG	uc002yjy.1	+	24	3244	c.3027delG	c.(3025-3027)TTGfs	p.L1009fs	USP25_uc011aby.1_Frame_Shift_Del_p.L1079fs|USP25_uc002yjz.1_Frame_Shift_Del_p.L1041fs|USP25_uc010gla.1_Frame_Shift_Del_p.L404fs	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1009					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGATTTTTTGCCAAAACTGC	0.363		NaN											NaN	NaN	NaN	NaN	NaN	57	47	---		---	---
WRNIP1	56897	broad.mit.edu	37	6	2766344	2766346	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:2766344_2766346delAGG	uc003mtz.2	+	1	679_681	c.488_490delAGG	c.(487-492)CAGGAG>CAG	p.E167del	WRNIP1_uc003mua.2_In_Frame_Del_p.E167del	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	167					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				gcggaggcgcaggaggaggagga	0.374		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
KRBA1	84626	broad.mit.edu	37	7	149427255	149427255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:149427255delC	uc003wfz.2	+	15	2228	c.1829delC	c.(1828-1830)TCCfs	p.S610fs	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Frame_Shift_Del_p.S217fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	610	Pro-rich.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAAGCCCTCCCCGCTGCAC	0.567		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
NUDCD1	84955	broad.mit.edu	37	8	110293311	110293312	+	Frame_Shift_Del	DEL	TG	TG	-	rs143668430		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:110293311_110293312delTG	uc003ynb.3	-	6	1024_1025	c.913_914delCA	c.(913-915)CAGfs	p.Q305fs	NUDCD1_uc003yna.2_Frame_Shift_Del_p.Q276fs|NUDCD1_uc010mcl.2_Frame_Shift_Del_p.Q218fs|NUDCD1_uc010mcm.1_Frame_Shift_Del_p.Q218fs	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	305	CS.									ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGGCAAAAACTGTATTTGAATG	0.371		NaN											NaN	NaN	NaN	NaN	NaN	82	10	---		---	---
UROD	7389	broad.mit.edu	37	1	45479331	45479332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:45479331_45479332delAG	uc001cna.1	+	5	450_451	c.342_343delAG	c.(340-345)GAAGAGfs	p.E114fs	HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_3'UTR|UROD_uc001cnb.1_Frame_Shift_Del_p.E79fs|UROD_uc010olj.1_Frame_Shift_Del_p.E58fs|UROD_uc001cnc.1_Frame_Shift_Del_p.E19fs	NM_000374	NP_000365	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	114_115						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)					CATTAAGAGAAGAGCAGGACCT	0.559		NaN							Porphyria_Cutanea_Tarda_Type_II				NaN	NaN	NaN	NaN	NaN	13	56	---		---	---
C10orf140	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCT	rs138084841	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:21805466_21805467insCCT	uc009xkd.2	-	4	3538_3539	c.1285_1286insAGG	c.(1285-1287)GGG>GAGGGG	p.428_429insE	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	347_348	Ser-rich.|Glu-rich.					nucleus	nucleotide binding			ovary(1)	1						CCCGCTGCccccctcctcctcc	0.441		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71905929_71905931delCAG	uc001jqr.2	-	1	566_568	c.412_414delCTG	c.(412-414)CTGdel	p.L138del	TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_In_Frame_Del_p.L138del|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	138					proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CCGGGCAGCTCAGCAGCAGCAGC	0.739		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PTEN	5728	broad.mit.edu	37	10	89720700	89720709	+	Frame_Shift_Del	DEL	AGGAAACCTC	AGGAAACCTC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			AGGAAACCTC	-	AGGAAACCTC	AGGAAACCTC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:89720700_89720709delAGGAAACCTC	uc001kfb.2	+	9	1882_1891	c.851_860delAGGAAACCTC	c.(850-861)GAGGAAACCTCAfs	p.E284fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	284_287	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E284K(1)|p.G165_*404del(1)|p.S287fs*1(1)|p.G165_K342del(1)|p.E284*(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287*(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGGACCAGAGGAAACCTCAGAAAAAGTA	0.286		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			NaN	NaN	NaN	NaN	NaN	13	33	---	Valid	---	---
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144223236	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:47721985_47721986insTGG	uc002zjf.2	-	9	2030_2031	c.896_897insCCA	c.(895-897)CAT>CACCAT	p.299_299H>HH	C21orf58_uc002ziz.2_Intron|C21orf58_uc002zja.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afw.1_In_Frame_Ins_p.216_216H>HH|C21orf58_uc002zjc.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afx.1_In_Frame_Ins_p.193_193H>HH|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	299	Poly-His.									pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.634		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
EIF4A2	1974	broad.mit.edu	37	3	186504931	186504932	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:186504931_186504932delAC	uc003fqs.2	+	8	826_827	c.787_788delAC	c.(787-789)ACAfs	p.T263fs	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.T264fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.T136fs|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	263	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAAGTTGGATACACTTTGTGAC	0.361		NaN	T	BCL6	NHL								NaN	NaN	NaN	NaN	NaN	56	178	---		---	---
KIFC1	3833	broad.mit.edu	37	6	33372709	33372709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:33372709delG	uc003oef.3	+	7	1287	c.837delG	c.(835-837)CAGfs	p.Q279fs	KIFC1_uc011drf.1_Frame_Shift_Del_p.Q271fs	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	279	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CTGTGGCCCAGGCAGCCTTAC	0.587		NaN											NaN	NaN	NaN	NaN	NaN	10	80	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652121	36652122	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:36652121_36652122insC	uc003omm.3	+	2	365_366	c.243_244insC	c.(241-246)GGGCCCfs	p.G81fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.G115fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.G81fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.G81fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	81_82					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TTCCCACGGGGCCCCGGCGAGG	0.653		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	8	23	---	Valid	---	---
SGK3	23678	broad.mit.edu	37	8	67748054	67748054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:67748054delG	uc003xwr.2	+	9	881	c.582delG	c.(580-582)CAGfs	p.Q194fs	SGK3_uc003xwp.2_Frame_Shift_Del_p.Q188fs|SGK3_uc003xwt.2_Frame_Shift_Del_p.Q194fs|SGK3_uc003xwu.2_Frame_Shift_Del_p.Q194fs	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	194	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGTGTTACAGAAAAAAATAG	0.289		NaN											NaN	NaN	NaN	NaN	NaN	19	48	---		---	---
RIT1	6016	broad.mit.edu	37	1	155874559	155874561	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:155874559_155874561delTCA	uc001fmh.1	-	4	385_387	c.198_200delTGA	c.(196-201)GATGAG>GAG	p.D66del	RIT1_uc010pgr.1_In_Frame_Del_p.D30del	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	66					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ATTGGCAGGCTCATCATCAATAC	0.409		NaN											NaN	NaN	NaN	NaN	NaN	11	100	---		---	---
WNK1	65125	broad.mit.edu	37	12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:970296_970297insA	uc001qio.3	+	7	2245_2246	c.1738_1739insA	c.(1738-1740)GAAfs	p.E580fs	WNK1_uc001qip.3_Frame_Shift_Ins_p.E580fs|WNK1_uc001qir.3_Frame_Shift_Ins_p.E27fs	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.47		NaN											NaN	NaN	NaN	NaN	NaN	7	97	---		---	---
DUSP6	1848	broad.mit.edu	37	12	89744602	89744603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:89744602_89744603insG	uc001tay.2	-	2	1080_1081	c.600_601insC	c.(598-603)TCCAACfs	p.S200fs	DUSP6_uc001taz.2_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	200_201					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						GGCTGGCTGTTGGACAGCGGAC	0.564		NaN											NaN	NaN	NaN	NaN	NaN	19	139	---		---	---
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:101680157delT	uc001tia.1	+	5	541	c.385delT	c.(385-387)TTTfs	p.F129fs	UTP20_uc009ztz.1_Frame_Shift_Del_p.F129fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CTTTCCAGAGTTTTTTTTGAC	0.398		NaN											NaN	NaN	NaN	NaN	NaN	8	241	---		---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:55362674_55362676delGAG	uc002ehy.2	+	5	1317_1319	c.784_786delGAG	c.(784-786)GAGdel	p.E268del	IRX6_uc002ehx.2_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CCTggaggaagaggaggaggagg	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	71	---		---	---
RBM43	375287	broad.mit.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:152108088delT	uc002txh.2	-	4	554	c.406delA	c.(406-408)ATCfs	p.I136fs		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388		NaN											NaN	NaN	NaN	NaN	NaN	7	103	---		---	---
COL18A1	80781	broad.mit.edu	37	21	46913126	46913126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:46913126delC	uc011afs.1	+	24	3530	c.3509delC	c.(3508-3510)TCCfs	p.S1170fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.S755fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.S935fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1170	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAACGAGGCTCCCCGGGACCC	0.672		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
FAT1	2195	broad.mit.edu	37	4	187557747	187557747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:187557747delT	uc003izf.2	-	5	4152	c.3964delA	c.(3964-3966)ATTfs	p.I1322fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1322	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACTGAAAGAATATCATATTCT	0.338		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	14	300	---		---	---
RHOBTB3	22836	broad.mit.edu	37	5	95116086	95116086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:95116086delC	uc003klm.2	+	9	1950	c.1413delC	c.(1411-1413)TTCfs	p.F471fs		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	471	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGAGACTTTCTTGTCATTTT	0.418		NaN											NaN	NaN	NaN	NaN	NaN	20	73	---		---	---
TAF3	83860	broad.mit.edu	37	10	8051117	8051128	+	In_Frame_Del	DEL	GCCCCCGCGCCC	GCCCCCGCGCCC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:8051117_8051128delGCCCCCGCGCCC	uc010qbd.1	+	5	2392_2403	c.2392_2403delGCCCCCGCGCCC	c.(2392-2403)GCCCCCGCGCCCdel	p.APAP798del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	798_801	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						cccaccgccggcccccgcgcccgcccccggcc	0.25		NaN											NaN	NaN	NaN	NaN	NaN	10	41	---		---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6867223_6867225delTTC	uc001met.1	+	1	310_312	c.310_312delTTC	c.(310-312)TTCdel	p.F108del		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517		NaN											NaN	NaN	NaN	NaN	NaN	7	97	---		---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:104879687delT	uc010rva.1	-	2	60	c.28delA	c.(28-30)AGGfs	p.R10fs	CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	10					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388		NaN											NaN	NaN	NaN	NaN	NaN	7	30	---		---	---
TP53	7157	broad.mit.edu	37	17	7577562	7577563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7577562_7577563insT	uc002gim.2	-	7	912_913	c.718_719insA	c.(718-720)AGTfs	p.S240fs	TP53_uc002gig.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S108fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S240fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.S147fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S108fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	240	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> T (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S240G(14)|p.S240R(8)|p.0?(7)|p.S240I(6)|p.N239_C242delNSSC(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGCAGGAACTGTTACACATG	0.574		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	71	19	---	Valid	---	---
SALL3	27164	broad.mit.edu	37	18	76752223	76752223	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:76752223delC	uc002lmt.2	+	2	232	c.232delC	c.(232-234)CCCfs	p.P78fs	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGCTCCCGCCCGTGCTGAT	0.716		NaN											NaN	NaN	NaN	NaN	NaN	26	18	---		---	---
DAZAP1	26528	broad.mit.edu	37	19	1434776	1434776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:1434776delC	uc002lsn.2	+	12	1278	c.1089delC	c.(1087-1089)TTCfs	p.F363fs	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Frame_Shift_Del_p.F362fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.F362fs	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	363	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGGCTTCTCAGACCCCA	0.592		NaN											NaN	NaN	NaN	NaN	NaN	48	67	---		---	---
LRG1	116844	broad.mit.edu	37	19	4538453	4538453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:4538453delG	uc002mau.2	-	2	554	c.543delC	c.(541-543)CCCfs	p.P181fs	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	181	LRR 4.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGGGGGGCAGTT	0.622		NaN											NaN	NaN	NaN	NaN	NaN	7	264	---		---	---
SFRS16	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45567607_45567609delCTC	uc002pak.2	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)CGCTCC>CGC	p.S385del	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_In_Frame_Del_p.S323del|SFRS16_uc002pam.2_In_Frame_Del_p.S385del	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	385	Ser-rich.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAGCCGCCGctcctcctcctcc	0.522		NaN											NaN	NaN	NaN	NaN	NaN	4	9	---		---	---
FGFR3	2261	broad.mit.edu	37	4	1808937	1808937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1808937delC	uc003gdr.3	+	18	2625	c.2369delC	c.(2368-2370)GCCfs	p.A790fs	FGFR3_uc003gdu.2_Frame_Shift_Del_p.A792fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.A678fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.C767fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	790	Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCGTGTTTGCCCACGACCTG	0.687		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				NaN	NaN	NaN	NaN	NaN	265	83	---	Valid	---	---
GBA3	57733	broad.mit.edu	37	4	22748956	22748956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:22748956delA	uc003gqp.3	+	3	415	c.324delA	c.(322-324)TTAfs	p.L108fs	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.L109fs	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	108					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						ATGATTTGTTAAAAAATGGGG	0.363		NaN											NaN	NaN	NaN	NaN	NaN	12	208	---		---	---
LNX1	84708	broad.mit.edu	37	4	54342918	54342918	+	Splice_Site	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:54342918delA	uc003hag.3	-	9	2148	c.1892_splice	c.e9+1	p.R631_splice	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_p.R535_splice|LNX1_uc003hah.3_Splice_Site	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a							cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTGGACTTACCGTGGTAAT	0.532		NaN											NaN	NaN	NaN	NaN	NaN	38	144	---		---	---
ELN	2006	broad.mit.edu	37	7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:73477649_73477651delCCG	uc003tzw.2	+	28	1977_1979	c.1886_1888delCCG	c.(1885-1890)CCCGCC>CCC	p.A636del	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.A630del|ELN_uc003tzz.2_In_Frame_Del_p.A549del|ELN_uc003tzo.2_In_Frame_Del_p.A582del|ELN_uc003tzp.2_In_Frame_Del_p.A541del|ELN_uc003tzq.2_In_Frame_Del_p.A494del|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_In_Frame_Del_p.A611del|ELN_uc003tzt.2_In_Frame_Del_p.A635del|ELN_uc003tzu.2_In_Frame_Del_p.A616del|ELN_uc003tzv.2_In_Frame_Del_p.A601del|ELN_uc003tzx.2_In_Frame_Del_p.A620del|ELN_uc011kff.1_In_Frame_Del_p.A630del|ELN_uc003tzy.2_In_Frame_Del_p.A606del	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	692	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGCCGGACccgccgccgccgc	0.512		NaN	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.2	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5							integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.66		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RPTN	126638	broad.mit.edu	37	1	152128385	152128388	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr1:152128385_152128388delTGTC	uc001ezs.1	-	3	1252_1255	c.1187_1190delGACA	c.(1186-1191)AGACAAfs	p.R396fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	396_397	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTTTGGTCTTGTCTGTCTGTCTG	0.505		NaN											NaN	NaN	NaN	NaN	NaN	8	1501	---		---	---
SUPT5H	6829	broad.mit.edu	37	19	39962359	39962359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr19:39962359delG	uc002olo.3	+	20	2118	c.1939delG	c.(1939-1941)GGGfs	p.G647fs	SUPT5H_uc002olp.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olq.3_Frame_Shift_Del_p.G643fs|SUPT5H_uc002oln.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002olr.3_Frame_Shift_Del_p.G647fs|SUPT5H_uc002ols.1_Frame_Shift_Del_p.G270fs|SUPT5H_uc010egp.1_Frame_Shift_Del_p.G13fs	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	647					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGCTGGCTGGGGGCTCAAA	0.587		NaN											NaN	NaN	NaN	NaN	NaN	15	40	---		---	---
USP4	7375	broad.mit.edu	37	3	49362440	49362441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr3:49362440_49362441insA	uc003cwq.2	-	5	598_599	c.519_520insT	c.(517-522)TTCAACfs	p.F173fs	USP4_uc003cwr.2_Frame_Shift_Ins_p.F173fs	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	173_174					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCAGGGATGTTGAATAGCTTCC	0.5		NaN											NaN	NaN	NaN	NaN	NaN	52	162	---		---	---
PAXIP1	22976	broad.mit.edu	37	7	154760267	154760269	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A3IT-01A-31D-A20D-08	TCGA-DK-A3IT-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07db4596-cb49-4a32-bc99-3b202ffe61a2	1b67f5e5-90c0-4726-a5bd-ee1fd31d56cd	g.chr7:154760267_154760269delCTG	uc003wlp.2	-	7	1685_1687	c.1642_1644delCAG	c.(1642-1644)CAGdel	p.Q548del	PAXIP1_uc003wlq.1_In_Frame_Del_p.Q514del|PAXIP1_uc011kvs.1_In_Frame_Del_p.Q512del|PAXIP1_uc003wlr.1_In_Frame_Del_p.Q457del	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	548	Gln-rich.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GACTTTGCATctgctgctgctgc	0.227		NaN											NaN	NaN	NaN	NaN	NaN	4	4	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27092815	27092815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:27092815delC	uc001bmv.1	+	9	3209	c.2836delC	c.(2836-2838)CCCfs	p.P946fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P563fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	946					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGGGACCCCCATATTC	0.483		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	18	129	---	Valid	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:98336475delT	uc001kmm.3	-	2	431	c.214delA	c.(214-216)AGTfs	p.S72fs	TM9SF3_uc010qot.1_Frame_Shift_Del_p.S72fs	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	72						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363		NaN											NaN	NaN	NaN	NaN	NaN	8	150	---		---	---
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:248252_248254delGAG	uc001qhw.1	+	1	820_822	c.814_816delGAG	c.(814-816)GAGdel	p.E276del	IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.586		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RNF17	56163	broad.mit.edu	37	13	25419163	25419163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25419163delA	uc001upr.2	+	22	3088	c.3047delA	c.(3046-3048)GAAfs	p.E1016fs	RNF17_uc010tdd.1_Frame_Shift_Del_p.E875fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Del_p.E1016fs|RNF17_uc001ups.2_Frame_Shift_Del_p.E955fs|RNF17_uc010aac.2_Frame_Shift_Del_p.E214fs|RNF17_uc010aad.2_Frame_Shift_Del_p.E68fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1016	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACTTGAAGAAAATCTAAAG	0.303		NaN											NaN	NaN	NaN	NaN	NaN	18	118	---		---	---
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:28367927_28367929delGGC	uc001urr.1	+	2	685_687	c.637_639delGGC	c.(637-639)GGCdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.463		NaN											NaN	NaN	NaN	NaN	NaN	7	93	---		---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:72190482_72190484delTCC	uc001xms.2	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)TCCdel	p.S1468del	SIPA1L1_uc001xmt.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.2_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.1_In_Frame_Del_p.S922del|SIPA1L1_uc001xmw.2_In_Frame_Del_p.S233del	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.468		NaN											NaN	NaN	NaN	NaN	NaN	7	167	---		---	---
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36255947_36255949delCTC	uc002obq.1	+	7	712_714	c.639_641delCTC	c.(637-642)ATCTCC>ATC	p.S218del		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	218	Ser-rich.									ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631		NaN											NaN	NaN	NaN	NaN	NaN	8	402	---		---	---
RBCK1	10616	broad.mit.edu	37	20	401519	401521	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:401519_401521delAGC	uc002wdp.3	+	7	1454_1456	c.761_763delAGC	c.(760-765)AAGCAG>AAG	p.Q258del	RBCK1_uc010zpm.1_Intron|RBCK1_uc002wdq.3_In_Frame_Del_p.Q216del|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	258	Potential.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCCCAGCGGAAGCAGCAGCAGCA	0.729		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:100039735_100039736insA	uc003dtt.2	+	18	2115_2116	c.1938_1939insA	c.(1936-1941)TCCAAAfs	p.S646fs	TBC1D23_uc003dts.2_Frame_Shift_Ins_p.S631fs|TBC1D23_uc003dtu.2_Frame_Shift_Ins_p.S77fs	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	646_647						intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						AAATTACATCCAAAAAAAAACA	0.356		NaN											NaN	NaN	NaN	NaN	NaN	8	78	---		---	---
UBE2K	3093	broad.mit.edu	37	4	39779392	39779392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39779392delA	uc003guu.3	+	6	774	c.490delA	c.(490-492)AAAfs	p.K164fs	UBE2K_uc003gus.3_Intron|UBE2K_uc003gut.3_Frame_Shift_Del_p.K113fs|UBE2K_uc010ifn.2_RNA|UBE2K_uc011byq.1_Frame_Shift_Del_p.K103fs|UBE2K_uc003guq.3_Frame_Shift_Del_p.K61fs	NM_005339	NP_005330	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K isoform 1	164	UBA.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						AGAATACACCAAAAAAATAGA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	7	122	---		---	---
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:139422565_139422567delGCT	uc003lex.1	-	1	313_315	c.88_90delAGC	c.(88-90)AGCdel	p.S30del	NRG2_uc003lev.1_In_Frame_Del_p.S30del|NRG2_uc003lew.1_In_Frame_Del_p.S30del|NRG2_uc003ley.1_In_Frame_Del_p.S30del	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	30	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.32		NaN											NaN	NaN	NaN	NaN	NaN	4	3	---		---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137519505_137519506delCT	uc003qho.2	-	7	1235_1236	c.1132_1133delAG	c.(1132-1134)AGTfs	p.S378fs	IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	378	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431		NaN											NaN	NaN	NaN	NaN	NaN	8	145	---		---	---
EFCAB4A	283229	broad.mit.edu	37	11	831640	831642	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr11:831640_831642delCTG	uc001lrv.2	+	9	1509_1511	c.1131_1133delCTG	c.(1129-1134)ACCTGC>ACC	p.C383del	EFCAB4A_uc009ycm.1_3'UTR|EFCAB4A_uc001lrw.2_In_Frame_Del_p.C448del|CD151_uc001lrx.2_5'Flank|CD151_uc001lry.2_5'Flank|CD151_uc001lrz.2_5'Flank|CD151_uc001lsa.2_5'Flank|CD151_uc001lsb.2_5'Flank			Q8N4Y2	EFC4A_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 4A;	383	Cys-rich.				store-operated calcium entry		calcium ion binding				0		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGCCCACCTGCTGCTGCTGC	0.695		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
ADAMTS2	9509	broad.mit.edu	37	5	178772259	178772260	+	In_Frame_Ins	INS	-	-	GCA			TCGA-DK-A3IV-01A-22D-A21A-08	TCGA-DK-A3IV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cecfbbc-5fe4-4413-95fd-07533aacbb73	e7fdb6f5-7d5a-4f7f-b1bb-48481bfca5a2	g.chr5:178772259_178772260insGCA	uc003mjw.2	-	1	70_71	c.70_71insTGC	c.(70-72)CCG>CTGCCG	p.23_24insL	ADAMTS2_uc011dgm.1_In_Frame_Ins_p.23_24insL	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	23_24					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		gagcggcggcggcagcagcagc	0.584		NaN											NaN	NaN	NaN	NaN	NaN	5	4	---		---	---
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	1	105_113	c.69_77delCCTGCCGCT	c.(67-78)CTCCTGCCGCTG>CTG	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	23_26						integral to membrane					0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.569		NaN											NaN	NaN	NaN	NaN	NaN	5	3	---		---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179690	72179691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:72179690_72179691delAG	uc001jrb.2	+	2	463_464	c.166_167delAG	c.(166-168)AGAfs	p.R56fs		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	56					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0						CATTTATGACAGAAAGTTTCTG	0.421		NaN											NaN	NaN	NaN	NaN	NaN	29	112	---		---	---
MYEOV	26579	broad.mit.edu	37	11	69063227	69063257	+	Frame_Shift_Del	DEL	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	uc001oov.2	+	3	760_790	c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	c.(310-342)GGTGACCGGGAGAGAAACAAGGGAGACAAGGGTfs	p.G104fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.G104fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.G46fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	104_114											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC	0.636		NaN											NaN	NaN	NaN	NaN	NaN	17	154	---		---	---
ANKRD11	29123	broad.mit.edu	37	16	89348573	89348573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89348573delC	uc002fmx.1	-	9	4838	c.4377delG	c.(4375-4377)AAGfs	p.K1459fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.K1416fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1459	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctcttcttcttctctttTA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	30	76	---		---	---
HLA-A	3105	broad.mit.edu	37	6	29910640	29910640	+	Frame_Shift_Del	DEL	C	C	-	rs3173429		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:29910640delC	uc003nol.2	+	2	180	c.180delC	c.(178-180)TTCfs	p.F60fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.F60fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Frame_Shift_Del_p.F32fs|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	60	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCGTGCGGTTCGACAGCGACG	0.667		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			NaN	NaN	NaN	NaN	NaN	19	68	---		---	---
KIAA1949	170954	broad.mit.edu	37	6	30653003	30653003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30653003delA	uc003nra.2	-	2	1024	c.793delT	c.(793-795)TCAfs	p.S265fs	KIAA1949_uc003nrb.3_Frame_Shift_Del_p.S265fs	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	265						cytoplasm|cytoskeleton	actin binding				0						TCTTCTCCTGACCTCAGCCTC	0.522		NaN											NaN	NaN	NaN	NaN	NaN	9	396	---		---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150658	68150658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:68150658delG	uc003xxo.1	-	22	3599	c.3209delC	c.(3208-3210)TCTfs	p.S1070fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.S524fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.S53fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1070					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTGTTCCAGAAATGTATCG	0.398		NaN											NaN	NaN	NaN	NaN	NaN	15	49	---		---	---
CSMD3	114788	broad.mit.edu	37	8	113504853	113504853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:113504853delT	uc003ynu.2	-	31	5302	c.5143delA	c.(5143-5145)ATGfs	p.M1715fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.M987fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.M1675fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.M1611fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1715	Extracellular (Potential).|Sushi 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATAATCCATTCCAAGTCTG	0.373		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			NaN	NaN	NaN	NaN	NaN	22	83	---		---	---
ACAT1	38	broad.mit.edu	37	11	108016949	108016950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr11:108016949_108016950insA	uc001pjy.2	+	11	1102_1103	c.1026_1027insA	c.(1024-1029)TTGAAAfs	p.L342fs		NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	342_343					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATGTGGGATTGAAAAAAGAAGA	0.307		NaN											NaN	NaN	NaN	NaN	NaN	44	175	---		---	---
SCN10A	6336	broad.mit.edu	37	3	38739662	38739662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr3:38739662delG	uc003ciq.2	-	27	5049	c.5049delC	c.(5047-5049)CCCfs	p.P1683fs		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1683	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTGCTGTTGGGCAGATTGG	0.582		NaN											NaN	NaN	NaN	NaN	NaN	19	71	---		---	---
KIAA0196	9897	broad.mit.edu	37	8	126087241	126087241	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3WX-01A-22D-A22Z-08	TCGA-DK-A3WX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b62ad72b-d34b-44b3-b238-aedc487939b1	20a57718-4664-4e08-bf79-2a8486f53669	g.chr8:126087241delT	uc003yrt.2	-	8	1306	c.977delA	c.(976-978)CAGfs	p.Q326fs	KIAA0196_uc011lir.1_Frame_Shift_Del_p.Q178fs	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	326					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAACCTACCTGTTCTCTGAC	0.388		NaN											NaN	NaN	NaN	NaN	NaN	12	95	---		---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	-	T	rs139197361	by1000genomes	TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr11:102738793_102738794insT	uc001phk.2	-	5	675	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416		NaN											NaN	NaN	NaN	NaN	NaN	7	6	---		---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:24705666delA	uc003swx.2	+	9	1209	c.910delA	c.(910-912)AAAfs	p.K304fs	MPP6_uc003swy.2_Frame_Shift_Del_p.K304fs|MPP6_uc010kur.2_5'UTR	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	304					protein complex assembly		protein binding				0						TATAAGTAGCAAAAAAAAGAA	0.299		NaN											NaN	NaN	NaN	NaN	NaN	7	177	---		---	---
MIPEP	4285	broad.mit.edu	37	13	24460591	24460591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24460591delC	uc001uox.3	-	2	344	c.244delG	c.(244-246)GAAfs	p.E82fs	PCOTH_uc001uoy.2_5'Flank	NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	82					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCTTTTTCTTGTGCAATA	0.453		NaN											NaN	NaN	NaN	NaN	NaN	21	101	---		---	---
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:110435129delG	uc001vqv.2	-	1	3786	c.3272delC	c.(3271-3273)CCGfs	p.P1091fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGCTTCGGGGGGGCCGC	0.682		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
SLC35B2	347734	broad.mit.edu	37	6	44222852	44222856	+	Frame_Shift_Del	DEL	ATCTT	ATCTT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44222852_44222856delATCTT	uc003oxd.2	-	4	1022_1026	c.886_890delAAGAT	c.(886-891)AAGATGfs	p.K296fs	SLC35B2_uc011dvt.1_Frame_Shift_Del_p.K199fs|SLC35B2_uc011dvu.1_Frame_Shift_Del_p.K163fs	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	296_297					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCGATGACATCTTATAGGCAAAC	0.532		NaN											NaN	NaN	NaN	NaN	NaN	7	55	---		---	---
PRIM2	5558	broad.mit.edu	37	6	57512639	57512640	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:57512639_57512640delTT	uc003pdx.2	+	15	1554_1555	c.1467_1468delTT	c.(1465-1470)TCTTTAfs	p.S489fs		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	489_490					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTCTGGCCTCTTTAAATTCCTC	0.411		NaN											NaN	NaN	NaN	NaN	NaN	30	496	---		---	---
HUWE1	10075	broad.mit.edu	37	X	53655540	53655540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:53655540delA	uc004dsp.2	-	15	1548	c.1146delT	c.(1144-1146)TTTfs	p.F382fs		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	382					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGCAGTGGCAAACTGGTGAG	0.478		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
KLHDC7A	127707	broad.mit.edu	37	1	18807481	18807497	+	Frame_Shift_Del	DEL	CCCCAGAGGAGCAGAGG	CCCCAGAGGAGCAGAGG	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:18807481_18807497delCCCCAGAGGAGCAGAGG	uc001bax.2	+	1	58_74	c.6_22delCCCCAGAGGAGCAGAGG	c.(4-24)TTCCCCAGAGGAGCAGAGGCCfs	p.F2fs	KLHDC7A_uc009vpg.2_5'Flank	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	2_8						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCATGTTCCCCAGAGGAGCAGAGGCCCAGGACTG	0.581		NaN											NaN	NaN	NaN	NaN	NaN	15	31	---		---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160589601delT	uc001fwl.3	-	5	1175	c.829delA	c.(829-831)AGCfs	p.S277fs	SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	277	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433		NaN											NaN	NaN	NaN	NaN	NaN	8	131	---		---	---
ELF3	1999	broad.mit.edu	37	1	201983137	201983153	+	Splice_Site	DEL	TGAGCCGGGCCATGAGG	TGAGCCGGGCCATGAGG	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08			TGAGCCGGGCCATGAGG	-	TGAGCCGGGCCATGAGG	TGAGCCGGGCCATGAGG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:201983137_201983153delTGAGCCGGGCCATGAGG	uc001gxg.3	+	7	4193	c.1001_splice	c.e7+1	p.R334_splice	ELF3_uc001gxi.3_Splice_Site_p.R334_splice|ELF3_uc001gxh.3_Splice_Site_p.R334_splice	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription						epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TACGAGAAGCTGAGCCGGGCCATGAGGTGAGCTGGCG	0.59		NaN											NaN	NaN	NaN	NaN	NaN	14	3	---	Valid	---	---
ABCC8	6833	broad.mit.edu	37	11	17428979	17428979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:17428979delC	uc001mnc.2	-	24	2968	c.2842delG	c.(2842-2844)GCCfs	p.A948fs		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	948	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTCTGTGGCTTTTCTCTCT	0.542		NaN											NaN	NaN	NaN	NaN	NaN	20	78	---		---	---
LCAT	3931	broad.mit.edu	37	16	67974100	67974109	+	Frame_Shift_Del	DEL	GCAGGCCCAC	GCAGGCCCAC	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:67974100_67974109delGCAGGCCCAC	uc002euy.1	-	6	1032_1041	c.1021_1030delGTGGGCCTGC	c.(1021-1032)GTGGGCCTGCCCfs	p.V341fs		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	341_344					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGGGGCGTGGGCAGGCCCACGCCGTAAAGA	0.61		NaN											NaN	NaN	NaN	NaN	NaN	30	121	---		---	---
HERC6	55008	broad.mit.edu	37	4	89300153	89300161	+	In_Frame_Del	DEL	AGGCGGCCA	AGGCGGCCA	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:89300153_89300161delAGGCGGCCA	uc011cdi.1	+	1	263_271	c.80_88delAGGCGGCCA	c.(79-90)CAGGCGGCCAGC>CGC	p.27_30QAAS>R	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_In_Frame_Del_p.27_30QAAS>R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	27_30					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGCTACTGCAGGCGGCCAGCGGGGAGCG	0.722		NaN											NaN	NaN	NaN	NaN	NaN	7	10	---		---	---
TMED9	54732	broad.mit.edu	37	5	177019252	177019268	+	Frame_Shift_Del	DEL	CGGCCCGGAACCGGGCT	CGGCCCGGAACCGGGCT	-	rs57960711	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:177019252_177019268delCGGCCCGGAACCGGGCT	uc003mhx.2	+	1	40_56	c.37_53delCGGCCCGGAACCGGGCT	c.(37-54)CGGCCCGGAACCGGGCTGfs	p.R13fs	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	13_18					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCGGCCCCGGCCCGGAACCGGGCTGGGTAGAGTG	0.696		NaN											NaN	NaN	NaN	NaN	NaN	10	10	---		---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:52883129delT	uc003pbh.2	-	8	1152	c.662delA	c.(661-663)AAGfs	p.K221fs	ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502		NaN											NaN	NaN	NaN	NaN	NaN	7	175	---		---	---
FER1L6	654463	broad.mit.edu	37	8	125015471	125015472	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015471_125015472insA	uc003yqw.2	+	13	1790_1791	c.1584_1585insA	c.(1582-1587)GCTGAAfs	p.A528fs	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	528_529	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGAATCAGCTGAAGAAGACCT	0.535		NaN											NaN	NaN	NaN	NaN	NaN	20	46	---		---	---
LUZP1	7798	broad.mit.edu	37	1	23419916	23419916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419916delT	uc001bgk.2	-	4	1223	c.839delA	c.(838-840)AACfs	p.N280fs	LUZP1_uc010odv.1_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgl.2_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgm.1_Frame_Shift_Del_p.N280fs	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	280	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTGATTGCGGTTCTTTTCATT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	23	94	---		---	---
C15orf52	388115	broad.mit.edu	37	15	40630039	40630040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:40630039_40630040insC	uc001zlh.3	-	6	716_717	c.700_701insG	c.(700-702)GACfs	p.D234fs	C15orf52_uc001zli.1_Frame_Shift_Ins_p.D166fs|C15orf52_uc010ucn.1_Frame_Shift_Ins_p.D24fs	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	234										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGGGCATAGTCCCAGCCCGCC	0.693		NaN											NaN	NaN	NaN	NaN	NaN	9	32	---		---	---
SEMA4B	10509	broad.mit.edu	37	15	90771602	90771602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:90771602delC	uc002boy.2	+	15	2524	c.2241delC	c.(2239-2241)TTCfs	p.F747fs	SEMA4B_uc002boz.2_Frame_Shift_Del_p.F747fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F585fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F585fs|SEMA4B_uc010bnv.1_Intron	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGAAAGTCTTCCTGAAGCAGG	0.612		NaN											NaN	NaN	NaN	NaN	NaN	16	26	---		---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:4228274_4228282delCCACAGCAG	uc003ghp.1	-	1	340_348	c.310_318delCTGCTGTGG	c.(310-318)CTGCTGTGGdel	p.LLW104del		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104_106	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727		NaN											NaN	NaN	NaN	NaN	NaN	8	23	---		---	---
EEF1A1	1915	broad.mit.edu	37	6	74229695	74229696	+	Frame_Shift_Ins	INS	-	-	CGAATCTA			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229695_74229696insCGAATCTA	uc003phi.2	-	1	91_92	c.54_55insTAGATTCG	c.(52-57)TCGGGCfs	p.S18fs	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phf.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phg.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phk.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phl.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phm.1_RNA	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	18_19	GTP (By similarity).					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GTGGACTTGCCCGAATCTACGT	0.416		NaN											NaN	NaN	NaN	NaN	NaN	25	76	---		---	---
SPTAN1	6709	broad.mit.edu	37	9	131371153	131371154	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371153_131371154insA	uc004bvl.3	+	35	4605_4606	c.4492_4493insA	c.(4492-4494)GAAfs	p.E1498fs	SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.E1498fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.E1478fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1498	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TTTCTGACAGGAAGAGAAGATT	0.54		NaN											NaN	NaN	NaN	NaN	NaN	50	128	---		---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.2	-	1						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	nudix-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.584		NaN								HNSCC(48;0.14)			NaN	NaN	NaN	NaN	NaN	4	7	---		---	---
C11orf9	745	broad.mit.edu	37	11	61536739	61536739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:61536739delC	uc001nsc.1	+	4	502	c.406delC	c.(406-408)CCGfs	p.P136fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.P127fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	136	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CAGCACACTGCCGGACTCTCC	0.682		NaN											NaN	NaN	NaN	NaN	NaN	5	4	---		---	---
PLEKHA9	51054	broad.mit.edu	37	12	45567306	45567306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:45567306delA	uc001rom.1	-	3	1380	c.843delT	c.(841-843)GTTfs	p.V281fs	PLEKHA9_uc009zke.2_Frame_Shift_Del_p.V281fs	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		CTGAGTTCCTAACCTGGGCTA	0.418		NaN											NaN	NaN	NaN	NaN	NaN	33	57	---		---	---
MLL2	8085	broad.mit.edu	37	12	49425478	49425478	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49425478delG	uc001rta.3	-	39	13010	c.13010delC	c.(13009-13011)CCTfs	p.P4337fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4337	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATGGGTGGGAGGGAGCTGGGC	0.617		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	17	16	---	Valid	---	---
FAM186B	84070	broad.mit.edu	37	12	49994518	49994518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49994518delC	uc001ruo.2	-	4	1078	c.905delG	c.(904-906)GGAfs	p.G302fs	FAM186B_uc010smk.1_Frame_Shift_Del_p.G212fs	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	302						protein complex				ovary(1)	1						ATGGTACCTTCCCCCTAAGAT	0.542		NaN											NaN	NaN	NaN	NaN	NaN	20	226	---		---	---
MBD1	4152	broad.mit.edu	37	18	47802020	47802020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:47802020delG	uc010dow.1	-	8	1179	c.742delC	c.(742-744)CGCfs	p.R248fs	MBD1_uc002lef.2_Frame_Shift_Del_p.R30fs|MBD1_uc002leg.2_Frame_Shift_Del_p.R199fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.R274fs|MBD1_uc002leh.3_Frame_Shift_Del_p.R248fs|MBD1_uc002len.2_Frame_Shift_Del_p.R248fs|MBD1_uc002lei.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lej.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lek.3_Frame_Shift_Del_p.R199fs|MBD1_uc002lel.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lem.3_Frame_Shift_Del_p.R248fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.R248fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.R248fs|MBD1_uc010dox.1_Frame_Shift_Del_p.R248fs|MBD1_uc002leo.2_Frame_Shift_Del_p.R248fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	248	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGACCAGGGCGGGGAGGGCGA	0.632		NaN											NaN	NaN	NaN	NaN	NaN	28	49	---		---	---
NEB	4703	broad.mit.edu	37	2	152420419	152420419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:152420419delC	uc010fnx.2	-	90	13585	c.13394delG	c.(13393-13395)GGCfs	p.G4465fs	NEB_uc002txr.2_Frame_Shift_Del_p.G888fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4465	Nebulin 122.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTGGTGCCCTCCCACGC	0.443		NaN											NaN	NaN	NaN	NaN	NaN	10	19	---		---	---
PGAP1	80055	broad.mit.edu	37	2	197781295	197781295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:197781295delT	uc002utw.2	-	3	438	c.324delA	c.(322-324)GCAfs	p.A108fs	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Frame_Shift_Del_p.A108fs|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	108	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						CTTTTCTAAGTGCAATGGAGC	0.378		NaN											NaN	NaN	NaN	NaN	NaN	28	26	---		---	---
COL4A4	1286	broad.mit.edu	37	2	227906897	227906897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:227906897delC	uc010zlt.1	-	37	4126	c.3472delG	c.(3472-3474)GATfs	p.D1158fs		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1158	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCCCTGGATCCCCCTGGAGG	0.542		NaN											NaN	NaN	NaN	NaN	NaN	41	98	---		---	---
MCTP1	79772	broad.mit.edu	37	5	94207113	94207113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:94207113delT	uc003kkx.2	-	14	2046	c.2046delA	c.(2044-2046)AAAfs	p.K682fs	MCTP1_uc003kkv.2_Frame_Shift_Del_p.K461fs|MCTP1_uc003kkw.2_Frame_Shift_Del_p.K415fs|MCTP1_uc003kkz.2_Frame_Shift_Del_p.K343fs|MCTP1_uc003kku.2_Frame_Shift_Del_p.K198fs	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	682	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATGGATATCTTTAATGTTGC	0.338		NaN											NaN	NaN	NaN	NaN	NaN	25	36	---		---	---
DNAH8	1769	broad.mit.edu	37	6	38810224	38810224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:38810224delT	uc003ooe.1	+	32	4496	c.3896delT	c.(3895-3897)CTTfs	p.L1299fs		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TATGAAATACTTTGGGGAGAT	0.343		NaN											NaN	NaN	NaN	NaN	NaN	30	72	---		---	---
TRERF1	55809	broad.mit.edu	37	6	42236492	42236492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:42236492delC	uc003osd.2	-	5	1400	c.837delG	c.(835-837)GGGfs	p.G279fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.G279fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.G279fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	279	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TACGCTGTTGCCCGGCTTGCT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	64	118	---		---	---
SLC4A2	6522	broad.mit.edu	37	7	150761698	150761698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:150761698delC	uc003wit.3	+	4	559	c.303delC	c.(301-303)GGCfs	p.G101fs	SLC4A2_uc011kve.1_Frame_Shift_Del_p.G92fs|SLC4A2_uc003wiu.3_Frame_Shift_Del_p.G87fs	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	101	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCCAGGGCCCAGGACGGA	0.682		NaN											NaN	NaN	NaN	NaN	NaN	55	75	---		---	---
MLL3	58508	broad.mit.edu	37	7	151877847	151877847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:151877847delA	uc003wla.2	-	36	7317	c.7098delT	c.(7096-7098)GATfs	p.D2366fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.D1427fs|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2366					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TATTCTGTGTATCAGTTACTC	0.428		NaN	N		medulloblastoma								NaN	NaN	NaN	NaN	NaN	40	28	---	Valid	---	---
C8orf73	642475	broad.mit.edu	37	8	144650796	144650796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:144650796delG	uc010mff.2	-	10	1614	c.1570delC	c.(1570-1572)CTGfs	p.L524fs	C8orf73_uc010mfg.1_Frame_Shift_Del_p.P536fs	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	524	Leu-rich.						binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCTTCCGCAgggggccgcgg	0.532		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
NOTCH1	4851	broad.mit.edu	37	9	139395013	139395025	+	Frame_Shift_Del	DEL	ACCTTGTGCGTCG	ACCTTGTGCGTCG	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139395013_139395025delACCTTGTGCGTCG	uc004chz.2	-	31	5913_5925	c.5913_5925delCGACGCACAAGGT	c.(5911-5925)GCCGACGCACAAGGTfs	p.A1971fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1971_1975	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTGGAAGACACCTTGTGCGTCGGCAGACACAG	0.676		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			NaN	NaN	NaN	NaN	NaN	36	120	---		---	---
DDX3X	1654	broad.mit.edu	37	X	41205816	41205818	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:41205816_41205818delCAA	uc004dfe.2	+	14	2411_2413	c.1556_1558delCAA	c.(1555-1560)CCAAGT>CGT	p.519_520PS>R	DDX3X_uc004dff.2_In_Frame_Del_p.519_520PS>R|DDX3X_uc011mkq.1_In_Frame_Del_p.503_504PS>R|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	519_520	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TTTGACTTGCCAAGTGATATTGA	0.36		NaN								HNSCC(61;0.18)			NaN	NaN	NaN	NaN	NaN	10	76	---		---	---
PCDH19	57526	broad.mit.edu	37	X	99661761	99661762	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:99661761_99661762insG	uc010nmz.2	-	1	3510_3511	c.1834_1835insC	c.(1834-1836)CGCfs	p.R612fs	PCDH19_uc004efw.3_Frame_Shift_Ins_p.R612fs|PCDH19_uc004efx.3_Frame_Shift_Ins_p.R612fs	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	612	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						AAAGAAGCCGCGGTCGCCCTCG	0.564		NaN											NaN	NaN	NaN	NaN	NaN	42	11	---		---	---
SLAMF7	57823	broad.mit.edu	37	1	160721190	160721190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr1:160721190delC	uc001fwq.2	+	5	840	c.825delC	c.(823-825)TGCfs	p.C275fs	SLAMF7_uc010pjn.1_Frame_Shift_Del_p.C181fs|SLAMF7_uc001fws.2_Frame_Shift_Del_p.C168fs|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Frame_Shift_Del_p.C144fs|SLAMF7_uc010pjp.1_Frame_Shift_Del_p.C128fs|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	275	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTAACATATGCCCCCATTCTG	0.468		NaN											NaN	NaN	NaN	NaN	NaN	11	164	---		---	---
PCDH15	65217	broad.mit.edu	37	10	55973780	55973781	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr10:55973780_55973781insA	uc001jju.1	-	10	1408_1409	c.1013_1014insT	c.(1012-1014)TTCfs	p.F338fs	PCDH15_uc010qhq.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhr.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhs.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qht.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhu.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc001jjv.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qhv.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhw.1_Frame_Shift_Ins_p.F301fs|PCDH15_uc010qhx.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qhy.1_Frame_Shift_Ins_p.F343fs|PCDH15_uc010qhz.1_Frame_Shift_Ins_p.F338fs|PCDH15_uc010qia.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc010qib.1_Frame_Shift_Ins_p.F316fs|PCDH15_uc001jjw.2_Frame_Shift_Ins_p.F338fs	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	338	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGCATATGGAAAAATCGTGG	0.366		NaN								HNSCC(58;0.16)			NaN	NaN	NaN	NaN	NaN	8	57	---		---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr11:125505377_125505378insA	uc009zbo.2	+	7	1559_1560	c.667_668insA	c.(667-669)GAAfs	p.E223fs	CHEK1_uc010sbh.1_Frame_Shift_Ins_p.E239fs|CHEK1_uc010sbi.1_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcf.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbp.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qcg.3_Frame_Shift_Ins_p.E223fs|CHEK1_uc009zbq.2_Frame_Shift_Ins_p.E223fs|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361		NaN						Other_conserved_DNA_damage_response_genes					NaN	NaN	NaN	NaN	NaN	8	126	---		---	---
A2BP1	54715	broad.mit.edu	37	16	7645615	7645616	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr16:7645615_7645616insCA	uc002cys.2	+	8	1521_1522	c.533_534insCA	c.(532-534)GGCfs	p.G178fs	A2BP1_uc010buf.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyr.1_Frame_Shift_Ins_p.G177fs|A2BP1_uc002cyt.2_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uxz.1_Frame_Shift_Ins_p.G221fs|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc010uyb.1_Frame_Shift_Ins_p.G178fs|A2BP1_uc002cyw.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyy.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc002cyx.2_Frame_Shift_Ins_p.G198fs|A2BP1_uc010uyc.1_Frame_Shift_Ins_p.G198fs	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	178	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AAATTACACGGCACCGTGGTAG	0.45		NaN											NaN	NaN	NaN	NaN	NaN	8	133	---		---	---
MC4R	4160	broad.mit.edu	37	18	58038747	58038748	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr18:58038747_58038748delCA	uc002lie.1	-	1	1254_1255	c.835_836delTG	c.(835-837)TGCfs	p.C279fs		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	279	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				AGACATGAAGCACACACAATAT	0.421		NaN											NaN	NaN	NaN	NaN	NaN	11	59	---		---	---
NKAIN4	128414	broad.mit.edu	37	20	61873940	61873941	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B3-01A-12D-A202-08	TCGA-FD-A3B3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e9fb61d-c90d-440b-857a-12e1048435ea	7a00fec5-1f57-4aa2-891a-75c1ece8b60b	g.chr20:61873940_61873941delAG	uc002yek.2	-	6	657_658	c.567_568delCT	c.(565-570)CTCTACfs	p.L189fs		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	189_190						integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TTGACATGGTAGAGAGGAAATG	0.446		NaN											NaN	NaN	NaN	NaN	NaN	36	247	---		---	---
DHX9	1660	broad.mit.edu	37	1	182849629	182849630	+	Splice_Site	INS	-	-	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:182849629_182849630insA	uc001gpr.2	+	22	2676	c.2513_splice	c.e22-2	p.E838_splice	DHX9_uc001gps.2_Splice_Site_p.E624_splice|DHX9_uc001gpt.2_Splice_Site_p.E117_splice|DHX9_uc009wyd.2_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9						CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TATCTCCCCACAGAGCTTGATG	0.396		NaN											NaN	NaN	NaN	NaN	NaN	13	61	---		---	---
LRDD	55367	broad.mit.edu	37	11	802398	802401	+	Splice_Site	DEL	TGAG	TGAG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:802398_802401delTGAG	uc001lro.1	-	6	1117	c.975_splice	c.e6-1	p.S325_splice	LRDD_uc009yck.1_Splice_Site|LRDD_uc001lrk.1_Splice_Site_p.S325_splice|LRDD_uc001lrl.1_Splice_Site_p.S179_splice|LRDD_uc001lrm.1_Splice_Site_p.S12_splice|LRDD_uc001lrn.1_Splice_Site_p.S179_splice|LRDD_uc001lrp.1_Splice_Site	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing						apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGGAAAGCTGAGTGAGGAAGGA	0.632		NaN											NaN	NaN	NaN	NaN	NaN	14	46	---		---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:47788664_47788669delGGTGGT	uc009ylv.2	-	1	325_330	c.172_177delACCACC	c.(172-177)ACCACCdel	p.TT58del	FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58_59										ovary(1)	1						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
MLL2	8085	broad.mit.edu	37	12	49415856	49415858	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			GAT	-	GAT	GAT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:49415856_49415858delGAT	uc001rta.3	-	53	16489_16491	c.16489_16491delATC	c.(16489-16491)ATCdel	p.I5497del		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5497	Poly-Ile.|SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCGGCTGGAGATGATGATGATT	0.527		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	177	79	---	Valid	---	---
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:50553619_50553620insG	uc003bjj.2	+	8	1286_1287	c.1203_1204insG	c.(1201-1206)CCTGGGfs	p.P401fs	MOV10L1_uc003bjk.3_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.1_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	401_402					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.46		NaN											NaN	NaN	NaN	NaN	NaN	74	95	---		---	---
PRRC1	133619	broad.mit.edu	37	5	126883526	126883529	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:126883526_126883529delTTGT	uc003kuk.2	+	8	1221_1224	c.1041_1044delTTGT	c.(1039-1044)GGTTGTfs	p.G347fs	PRRC1_uc003kuj.3_Frame_Shift_Del_p.G347fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	347_348						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTGACATTGGTTGTTTGGTGGTTG	0.358		NaN											NaN	NaN	NaN	NaN	NaN	36	62	---		---	---
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:42204105_42204106insTCC	uc003osd.2	-	16	3466_3467	c.2903_2904insGGA	c.(2902-2904)GAC>GAGGAC	p.967_968insE	TRERF1_uc011duq.1_In_Frame_Ins_p.884_885insE|TRERF1_uc003osb.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003osc.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003ose.2_In_Frame_Ins_p.987_988insE	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967_968	Interacts with CREBBP.|Glu-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.465		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
PTPRK	5796	broad.mit.edu	37	6	128540172	128540173	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:128540172_128540173delAG	uc003qbk.2	-	6	1129_1130	c.762_763delCT	c.(760-765)TCCTTCfs	p.S254fs	PTPRK_uc003qbj.2_Frame_Shift_Del_p.S254fs|PTPRK_uc010kfc.2_Frame_Shift_Del_p.S254fs|PTPRK_uc011ebu.1_Frame_Shift_Del_p.S254fs|PTPRK_uc003qbl.1_Frame_Shift_Del_p.S124fs|PTPRK_uc011ebv.1_Frame_Shift_Del_p.S254fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	254_255	Extracellular (Potential).|Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGCAATCTGAAGGAAGCGGCAA	0.411		NaN											NaN	NaN	NaN	NaN	NaN	15	107	---		---	---
ARID1B	57492	broad.mit.edu	37	6	157099403	157099405	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:157099403_157099405delCAG	uc003qqn.2	+	1	318_320	c.166_168delCAG	c.(166-168)CAGdel	p.Q73del	ARID1B_uc003qqo.2_In_Frame_Del_p.Q73del|ARID1B_uc003qqp.2_In_Frame_Del_p.Q73del	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	131	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAACCAGTTCcagcagcagcagc	0.118		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---	Inconclusive	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:70509285_70509286delGA	uc001joo.2	+	10	1080_1081	c.961_962delGA	c.(961-963)GAGfs	p.E321fs	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TTTCAGTCGTGAGAGAGAGAGA	0.391		NaN											NaN	NaN	NaN	NaN	NaN	8	65	---		---	---
PLAU	5328	broad.mit.edu	37	10	75673458	75673459	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:75673458_75673459delGT	uc001jwa.2	+	7	768_769	c.622_623delGT	c.(622-624)GTGfs	p.V208fs	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Frame_Shift_Del_p.V191fs|PLAU_uc010qkx.1_Frame_Shift_Del_p.V122fs|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Frame_Shift_Del_p.V208fs|PLAU_uc009xrq.1_Frame_Shift_Del_p.V172fs	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	208	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TGTCACCTACGTGTGTGGAGGC	0.599		NaN											NaN	NaN	NaN	NaN	NaN	202	79	---		---	---
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:76506673_76506675delCTG	uc001oxt.2	+	2	185_187	c.13_15delCTG	c.(13-15)CTGdel	p.L9del		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	9						extracellular region					0	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616		NaN											NaN	NaN	NaN	NaN	NaN	9	108	---		---	---
MLL	4297	broad.mit.edu	37	11	118374297	118374298	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08			-	CCTC	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:118374297_118374298insCCTC	uc001pta.2	+	27	7704_7705	c.7681_7682insCCTC	c.(7681-7683)GCCfs	p.A2561fs	MLL_uc001ptb.2_Frame_Shift_Ins_p.A2564fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2561					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACCAATTTCAGCCTCTGAAAAT	0.431		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								NaN	NaN	NaN	NaN	NaN	20	60	---	Valid	---	---
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32861134_32861135delAG	uc001rld.2	+	4	506_507	c.345_346delAG	c.(343-348)ACAGAAfs	p.T115fs	DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Frame_Shift_Del_p.T115fs|DNM1L_uc001rlf.2_Frame_Shift_Del_p.T115fs|DNM1L_uc010skh.1_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlg.2_Frame_Shift_Del_p.T181fs|DNM1L_uc001rlh.2_Frame_Shift_Del_p.T168fs|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	115_116	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262		NaN											NaN	NaN	NaN	NaN	NaN	45	49	---		---	---
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	GCA	-	rs72405287		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:103352172_103352174delGCA	uc001tjr.3	+	1	721_723	c.150_152delGCA	c.(148-153)GCGCAG>GCG	p.Q62del		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						cgcagagcgcgcagcagcagcag	0.443		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:101005271_101005273delCCT	uc010txa.1	-	6	961_963	c.815_817delAGG	c.(814-819)GAGGCC>GCC	p.E272del	BEGAIN_uc001yhp.2_In_Frame_Del_p.E208del|BEGAIN_uc001yhq.2_In_Frame_Del_p.E272del	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724		NaN											NaN	NaN	NaN	NaN	NaN	7	18	---		---	---
MMP28	79148	broad.mit.edu	37	17	34093889	34093889	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:34093889delC	uc002hjy.1	-	10	1452	c.1193delG	c.(1192-1194)GGCfs	p.G398fs	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	398	Hemopexin-like 2.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGCTTGGGGCCCCGGAACCT	0.682		NaN									OREG0024329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:126178522delT	uc003eiv.2	-	7	2240	c.2186delA	c.(2185-2187)AAGfs	p.K729fs	ZXDC_uc010hsh.2_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522		NaN											NaN	NaN	NaN	NaN	NaN	10	890	---		---	---
PCDHA11	56138	broad.mit.edu	37	5	140249748	140249748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140249748delT	uc003lia.2	+	1	1918	c.1060delT	c.(1060-1062)TTGfs	p.L354fs	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Frame_Shift_Del_p.L354fs	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	354	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGACTTCCTTGTCCCTCCC	0.572		NaN											NaN	NaN	NaN	NaN	NaN	43	66	---		---	---
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56087292delC	uc003trg.2	-	4	638	c.275_splice	c.e4+1	p.R92_splice	PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577		NaN											NaN	NaN	NaN	NaN	NaN	9	98	---		---	---
ZNF777	27153	broad.mit.edu	37	7	149128965	149128966	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:149128965_149128966delGC	uc003wfv.2	-	6	2560_2561	c.2397_2398delGC	c.(2395-2400)GCGCACfs	p.A799fs		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGCCCGTGTGCGCGCGCTGGT	0.668		NaN											NaN	NaN	NaN	NaN	NaN	8	43	---		---	---
ITIH5L	347365	broad.mit.edu	37	X	54824559	54824560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:54824559_54824560insG	uc004dtj.2	-	1	114_115	c.84_85insC	c.(82-87)CCCGCTfs	p.P28fs		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	28_29	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CTTGATGAAGCGGGGACAGGGG	0.48		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:150530506delG	uc001eux.2	+	14	2499	c.2263delG	c.(2263-2265)GGGfs	p.G755fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G778fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692		NaN											NaN	NaN	NaN	NaN	NaN	7	248	---		---	---
KIF1C	10749	broad.mit.edu	37	17	4905382	4905382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:4905382delG	uc002gan.1	+	6	718	c.392delG	c.(391-393)AGTfs	p.S131fs		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	131	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						TCTCGCGTTAGTGAGAACCAG	0.448		NaN											NaN	NaN	NaN	NaN	NaN	33	115	---		---	---
SMCR7	125170	broad.mit.edu	37	17	18167412	18167412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:18167412delC	uc002gst.2	+	4	910	c.699delC	c.(697-699)TGCfs	p.C233fs	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Frame_Shift_Del_p.C244fs	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	233						integral to membrane	protein binding				0	all_neural(463;0.228)					TTGAGTTCTGCCCCCGTGGGA	0.706		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:55733470_55733472delTGG	uc003dhr.1	-	16	3037_3039	c.2781_2783delCCA	c.(2779-2784)CACCAT>CAT	p.927_928HH>H	ERC2_uc003dhq.1_RNA	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	927_928	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.389		NaN											NaN	NaN	NaN	NaN	NaN	9	464	---		---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:146077123_146077125delCAG	uc003ika.3	-	8	596_598	c.458_460delCTG	c.(457-462)GCTGAT>GAT	p.A153del	OTUD4_uc003ijz.3_In_Frame_Del_p.A153del	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	218							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34		NaN											NaN	NaN	NaN	NaN	NaN	8	264	---		---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:140032593_140032594delGA	uc003lgq.2	+	5	378_379	c.268_269delGA	c.(268-270)GAGfs	p.E90fs	IK_uc011czk.1_Frame_Shift_Del_p.E90fs	NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46		NaN											NaN	NaN	NaN	NaN	NaN	7	50	---		---	---
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:141694361_141694363delTGC	uc003lml.2	-	2	570_572	c.311_313delGCA	c.(310-315)AGCACA>ACA	p.S104del	SPRY4_uc010jgi.1_In_Frame_Del_p.S127del	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	104	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.66		NaN							Testicular_Cancer_Familial_Clustering_of				NaN	NaN	NaN	NaN	NaN	8	212	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:36652009_36652010insG	uc003omm.3	+	2	253_254	c.131_132insG	c.(130-132)GAGfs	p.E44fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	44					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGCATCCAGGAGGCCCGTGAGC	0.658		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	12	65	---	Valid	---	---
ACTB	60	broad.mit.edu	37	7	5567428	5567429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:5567428_5567429insG	uc003sos.3	-	5	1114_1115	c.1078_1079insC	c.(1078-1080)CAGfs	p.Q360fs	ACTB_uc003sor.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc003sot.3_Frame_Shift_Ins_p.Q360fs|ACTB_uc003soq.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc010ksy.2_Frame_Shift_Ins_p.Q238fs	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	360					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTCATACTCCTGCTTGCTGATC	0.55		NaN											NaN	NaN	NaN	NaN	NaN	27	351	---		---	---
PANX2	56666	broad.mit.edu	37	22	50616632	50616633	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:50616632_50616633delTG	uc003bjn.3	+	2	1491_1492	c.1491_1492delTG	c.(1489-1494)CCTGCCfs	p.P497fs	PANX2_uc003bjp.3_Frame_Shift_Del_p.P363fs|PANX2_uc003bjo.3_Frame_Shift_Del_p.P497fs	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	497_498	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		gccccgcccctgcccccgcccc	0.554		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
MAP3K6	9064	broad.mit.edu	37	1	27683217	27683233	+	Frame_Shift_Del	DEL	GTGAGACCGCCTCCTTC	GTGAGACCGCCTCCTTC	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC	uc001bny.1	-	25	3621_3637	c.3372_3388delGAAGGAGGCGGTCTCAC	c.(3370-3390)GAGAAGGAGGCGGTCTCACCGfs	p.E1124fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.E1116fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1124_1130					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGACCTCGGTGAGACCGCCTCCTTCTCCACCTCTG	0.664		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:152082957_152082959delCTC	uc001ezp.2	-	2	2734_2736	c.2734_2736delGAG	c.(2734-2736)GAGdel	p.E912del	TCHH_uc009wne.1_In_Frame_Del_p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	912	4-1.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586		NaN											NaN	NaN	NaN	NaN	NaN	10	170	---		---	---
IFIT2	3433	broad.mit.edu	37	10	91065822	91065822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:91065822delA	uc009xts.2	+	2	284	c.109delA	c.(109-111)AAAfs	p.K37fs	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	37					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				TTTTGAAGACAAAGTATTTTA	0.438		NaN											NaN	NaN	NaN	NaN	NaN	22	13	---		---	---
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66625231_66625233delCTG	uc001ojr.2	+	1	356_358	c.16_18delCTG	c.(16-18)CTGdel	p.L10del	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_In_Frame_Del_p.L10del|LRFN4_uc001ojs.2_In_Frame_Del_p.L10del	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	10						integral to membrane					0						CCCGCCGCTCCTGCTGCTGCTGC	0.719		NaN											NaN	NaN	NaN	NaN	NaN	7	110	---		---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6649704_6649706delGGC	uc001qpd.1	-	9	1657_1659	c.1623_1625delGCC	c.(1621-1626)CCGCCA>CCA	p.541_542PP>P	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_In_Frame_Del_p.181_182PP>P|IFFO1_uc001qpb.1_In_Frame_Del_p.218_219PP>P|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_In_Frame_Del_p.553_554PP>P|IFFO1_uc001qpf.1_In_Frame_Del_p.544_545PP>P|IFFO1_uc001qoz.1_In_Frame_Del_p.182_183PP>P|IFFO1_uc001qpc.1_In_Frame_Del_p.545_546PP>P|IFFO1_uc001qpg.2_In_Frame_Del_p.R181del	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	541_542	Poly-Pro.					intermediate filament					0						AGCCTCGCTTGGCGGCGGCGGCG	0.601		NaN											NaN	NaN	NaN	NaN	NaN	14	188	---		---	---
CLDN10	9071	broad.mit.edu	37	13	96205153	96205168	+	Frame_Shift_Del	DEL	TGTGGAAGGCGTGCGT	TGTGGAAGGCGTGCGT	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT	uc001vmh.2	+	1	207_222	c.146_161delTGTGGAAGGCGTGCGT	c.(145-162)CTGTGGAAGGCGTGCGTTfs	p.L49fs	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	49_54	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGGCCAACCTGTGGAAGGCGTGCGTTACCGACTCC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	24	210	---		---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:108518687_108518689delCTG	uc001vql.2	-	1	772_774	c.256_258delCAG	c.(256-258)CAGdel	p.Q86del		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			skin(1)	1						gccgctgcctctgctgctgctgc	0.404		NaN											NaN	NaN	NaN	NaN	NaN	8	85	---		---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs66793222		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:78913068_78913070delCAG	uc002bec.2	-	1	253_255	c.67_69delCTG	c.(67-69)CTGdel	p.L23del	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	23			Missing.		activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						gcagcagagacagcagcagcagc	0.601		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
ZNF598	90850	broad.mit.edu	37	16	2049883	2049885	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2049883_2049885delTCC	uc002cof.1	-	11	1680_1682	c.1665_1667delGGA	c.(1663-1668)GAGGAC>GAC	p.E555del	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	555						intracellular	zinc ion binding			lung(1)|breast(1)	2						CGGGCCGCCGTCCTCCTCCTCCT	0.709		NaN											NaN	NaN	NaN	NaN	NaN	4	6	---		---	---
ABCA3	21	broad.mit.edu	37	16	2369649	2369651	+	In_Frame_Del	DEL	AGC	AGC	-	rs145342500		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2369649_2369651delAGC	uc002cpy.1	-	8	1516_1518	c.804_806delGCT	c.(802-807)CTGCTC>CTC	p.268_269LL>L	ABCA3_uc010bsk.1_In_Frame_Del_p.268_269LL>L|ABCA3_uc010bsl.1_In_Frame_Del_p.268_269LL>L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	268_269	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GGTGAAGCTGAGCAGCAGCAGCA	0.611		NaN											NaN	NaN	NaN	NaN	NaN	9	367	---		---	---
IL27	246778	broad.mit.edu	37	16	28518125	28518126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:28518125_28518126insC	uc002dqc.2	-	1	30_31	c.7_8insG	c.(7-9)CAGfs	p.Q3fs	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	3					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						GCCTGCCGTCTGGCCCATGGCG	0.629		NaN											NaN	NaN	NaN	NaN	NaN	40	119	---		---	---
SEPT1	1731	broad.mit.edu	37	16	30390387	30390388	+	Frame_Shift_Ins	INS	-	-	AGCG			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:30390387_30390388insAGCG	uc002dxy.2	-	10	1064_1065	c.877_878insCGCT	c.(877-879)TGCfs	p.C293fs	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Frame_Shift_Ins_p.C118fs	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	293					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GCTCTGTAGGCAGCGGGCCCGG	0.658		NaN											NaN	NaN	NaN	NaN	NaN	65	108	---		---	---
NOTCH3	4854	broad.mit.edu	37	19	15290217	15290223	+	Frame_Shift_Del	DEL	GGTCAAT	GGTCAAT	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:15290217_15290223delGGTCAAT	uc002nan.2	-	21	3488_3494	c.3412_3418delATTGACC	c.(3412-3420)ATTGACCTCfs	p.I1138fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.I1086fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1138_1140	Extracellular (Potential).|EGF-like 29; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCCACGAGGTCAATGCATGAACCC	0.594		NaN											NaN	NaN	NaN	NaN	NaN	63	111	---		---	---
ESPNL	339768	broad.mit.edu	37	2	239039530	239039530	+	Frame_Shift_Del	DEL	G	G	-	rs115923307	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239039530delG	uc002vxq.3	+	9	2285	c.2175delG	c.(2173-2175)GCGfs	p.A725fs	ESPNL_uc010fyw.2_Frame_Shift_Del_p.A421fs	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	725										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CATCAGAGGCGGGTGCCGCAG	0.682		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
LAMA5	3911	broad.mit.edu	37	20	60895697	60895698	+	Frame_Shift_Ins	INS	-	-	G	rs2297587	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60895697_60895698insG	uc002ycq.2	-	50	6743_6744	c.6676_6677insC	c.(6676-6678)CGCfs	p.R2226fs		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2226	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCTCATGGCGGGGGCCCAGG	0.708		NaN											NaN	NaN	NaN	NaN	NaN	10	55	---		---	---
PDE5A	8654	broad.mit.edu	37	4	120446823	120446823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:120446823delG	uc003idh.2	-	12	1815	c.1660delC	c.(1660-1662)CTTfs	p.L554fs	uc003ide.3_Intron|PDE5A_uc003idf.2_Frame_Shift_Del_p.L512fs|PDE5A_uc003idg.2_Frame_Shift_Del_p.L502fs|uc003idi.3_Intron	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	554					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAATTTTAAGGGTCTGGGCA	0.408		NaN											NaN	NaN	NaN	NaN	NaN	15	47	---		---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91296568_91296570delGAG	uc003pnz.1	-	1	195_197	c.33_35delCTC	c.(31-36)TCCTCG>TCG	p.11_12SS>S	MAP3K7_uc003poa.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003pob.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poc.1_In_Frame_Del_p.11_12SS>S	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11_12	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655		NaN											NaN	NaN	NaN	NaN	NaN	9	99	---		---	---
SMPD2	6610	broad.mit.edu	37	6	109765030	109765042	+	Frame_Shift_Del	DEL	GGCCCAGGATCTG	GGCCCAGGATCTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:109765030_109765042delGGCCCAGGATCTG	uc003pti.2	+	10	1588_1600	c.1194_1206delGGCCCAGGATCTG	c.(1192-1206)GAGGCCCAGGATCTGfs	p.E398fs		NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	398_402					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGGCAAGGGAGGCCCAGGATCTGGGCCCAGAGC	0.568		NaN											NaN	NaN	NaN	NaN	NaN	9	72	---		---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:146755399_146755401delCAG	uc010khw.1	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)CAGdel	p.Q1022del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1022	Gln/Pro-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.66		NaN											NaN	NaN	NaN	NaN	NaN	11	471	---		---	---
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:159188477delG	uc003qrt.3	-	12	1627	c.1412delC	c.(1411-1413)CCGfs	p.P471fs	EZR_uc011efr.1_Frame_Shift_Del_p.P78fs|EZR_uc011efs.1_Frame_Shift_Del_p.P439fs|EZR_uc003qru.3_Frame_Shift_Del_p.P471fs	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	471	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGTGGGGGCGGGGGTGCTGT	0.597		NaN											NaN	NaN	NaN	NaN	NaN	56	196	---		---	---
RHBDD2	57414	broad.mit.edu	37	7	75513098	75513100	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:75513098_75513100delGAG	uc003udw.1	+	3	753_755	c.669_671delGAG	c.(667-672)ATGAGG>ATG	p.R225del	RHBDD2_uc003udv.1_In_Frame_Del_p.R84del	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	225						integral to membrane	serine-type endopeptidase activity				0						TCAGCCTGATGAGGAGGATATCC	0.527		NaN											NaN	NaN	NaN	NaN	NaN	68	176	---		---	---
FAM86B1	85002	broad.mit.edu	37	8	12041205	12041205	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:12041205delC	uc010lse.2	-	7	846	c.801delG	c.(799-801)GGGfs	p.G267fs	FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_RNA|FAM86B1_uc003wvi.3_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsd.2_RNA|FAM86B1_uc003wvh.3_Frame_Shift_Del_p.G110fs|FAM86B1_uc011kxq.1_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsf.2_Frame_Shift_Del_p.G110fs|FAM86B1_uc003wvj.3_Frame_Shift_Del_p.G201fs|FAM86B1_uc003wvk.3_Frame_Shift_Del_p.G301fs|FAM86B1_uc010lsg.2_RNA|FAM86B1_uc003wvl.3_RNA	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	hypothetical protein LOC85002	267											0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CCCATCTGATCCCATCCCGGC	0.552		NaN											NaN	NaN	NaN	NaN	NaN	4	2	---		---	---
SLC46A2	57864	broad.mit.edu	37	9	115652137	115652137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:115652137delT	uc004bgk.2	-	1	1057	c.825delA	c.(823-825)AAAfs	p.K275fs		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	275	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GGGGTTTTGCTTTTCCAGGAG	0.537		NaN											NaN	NaN	NaN	NaN	NaN	36	84	---		---	---
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139390945_139390947delGTG	uc004chz.2	-	34	7244_7246	c.7244_7246delCAC	c.(7243-7248)CCACAG>CAG	p.P2415del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2415	Cytoplasmic (Potential).|Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.65		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			NaN	NaN	NaN	NaN	NaN	8	157	---		---	---
TAF9B	51616	broad.mit.edu	37	X	77387128	77387139	+	In_Frame_Del	DEL	ATCATCTTCATG	ATCATCTTCATG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:77387128_77387139delATCATCTTCATG	uc004eda.2	-	7	795_806	c.724_735delCATGAAGATGAT	c.(724-735)CATGAAGATGATdel	p.HEDD242del		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	242_245	Poly-Asp.				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CATTGTCATCATCATCTTCATGTTTTCTCTTC	0.354		NaN											NaN	NaN	NaN	NaN	NaN	19	11	---		---	---
C11orf63	79864	broad.mit.edu	37	11	122775122	122775123	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr11:122775122_122775123insA	uc001pym.2	+	3	1131_1132	c.834_835insA	c.(832-837)AATAAAfs	p.N278fs	C11orf63_uc001pyl.1_Frame_Shift_Ins_p.N278fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	278_279										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AACTTCACAATAAAAAAAGAGG	0.406		NaN											NaN	NaN	NaN	NaN	NaN	86	153	---		---	---
SOX1	6656	broad.mit.edu	37	13	112722081	112722083	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr13:112722081_112722083delGGC	uc001vsb.1	+	1	169_171	c.109_111delGGC	c.(109-111)GGCdel	p.G43del		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		cggaggcgggggcggcggcggcg	0.552		NaN											NaN	NaN	NaN	NaN	NaN	5	10	---		---	---
UACA	55075	broad.mit.edu	37	15	70979935	70979935	+	Frame_Shift_Del	DEL	T	T	-	rs147378902		TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr15:70979935delT	uc002asr.2	-	7	650	c.546delA	c.(544-546)ATAfs	p.I182fs	UACA_uc010uke.1_Intron|UACA_uc002asq.2_Frame_Shift_Del_p.I169fs|UACA_uc010bin.1_Frame_Shift_Del_p.I168fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	182	ANK 5.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						GCAGTTGACATATTGTTGGCC	0.428		NaN											NaN	NaN	NaN	NaN	NaN	21	96	---		---	---
GGA3	23163	broad.mit.edu	37	17	73239175	73239175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr17:73239175delT	uc002jni.1	-	6	506	c.497delA	c.(496-498)AACfs	p.N166fs	GGA3_uc002jnj.1_Frame_Shift_Del_p.N133fs|GGA3_uc010wrw.1_Frame_Shift_Del_p.N44fs|GGA3_uc002jnk.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrx.1_Frame_Shift_Del_p.N44fs|GGA3_uc010wry.1_Frame_Shift_Del_p.N94fs|GGA3_uc010wrz.1_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	166	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AAAAACAGGGTTTTTGGGACG	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	303	---		---	---
HCN2	610	broad.mit.edu	37	19	616296	616296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3NA-01A-11D-A21A-08	TCGA-FD-A3NA-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d079a32c-270b-4c43-8372-884e8d0c48ed	364bca7a-3890-45cb-a284-d681100ea5e0	g.chr19:616296delC	uc002lpe.2	+	8	2545	c.2492delC	c.(2491-2493)GCCfs	p.A831fs		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	831	Pro-rich.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAcggcgcccccggcccc	0.413		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PRDM16	63976	broad.mit.edu	37	1	3160668	3160668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:3160668delG	uc001akf.2	+	3	485	c.405delG	c.(403-405)GTGfs	p.V135fs	PRDM16_uc001akc.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001akd.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001ake.2_Frame_Shift_Del_p.V135fs|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	135	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGACGTGGAAGTGTCGC	0.557		NaN	T	EVI1	MDS|AML								NaN	NaN	NaN	NaN	NaN	23	67	---		---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	8	1288_1290	c.901_903delCAG	c.(901-903)CAGdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.512		NaN											NaN	NaN	NaN	NaN	NaN	9	227	---		---	---
OR51I2	390064	broad.mit.edu	37	11	5475260	5475261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:5475260_5475261insC	uc010qzf.1	+	1	542_543	c.542_543insC	c.(541-543)CACfs	p.H181fs	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGCCTGCACCCAGACATGA	0.46		NaN											NaN	NaN	NaN	NaN	NaN	34	41	---		---	---
SAPS3	55291	broad.mit.edu	37	11	68331787	68331788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr11:68331787_68331788insA	uc001onw.2	+	9	1129_1130	c.862_863insA	c.(862-864)GAGfs	p.E288fs	SAPS3_uc001onv.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001ony.3_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onx.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc009ysh.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onu.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	288					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			AGGCCATATAGAGATCTGCCCA	0.376		NaN											NaN	NaN	NaN	NaN	NaN	55	94	---		---	---
ZNF317	57693	broad.mit.edu	37	19	9272093	9272093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr19:9272093delG	uc002mku.2	+	7	2047	c.1772delG	c.(1771-1773)TGGfs	p.W591fs	ZNF317_uc002mkv.2_Frame_Shift_Del_p.W450fs|ZNF317_uc002mkw.2_Frame_Shift_Del_p.W559fs|ZNF317_uc002mkx.2_Frame_Shift_Del_p.W506fs|ZNF317_uc002mky.2_Frame_Shift_Del_p.W474fs	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATCCGTGTGGAAAAGGCTC	0.557		NaN											NaN	NaN	NaN	NaN	NaN	17	28	---		---	---
SPATA2	9825	broad.mit.edu	37	20	48522186	48522187	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr20:48522186_48522187delGG	uc010gie.2	-	3	1882_1883	c.1532_1533delCC	c.(1531-1533)TCCfs	p.S511fs	SPATA2_uc002xuw.2_Frame_Shift_Del_p.S511fs|SPATA2_uc010zyn.1_Frame_Shift_Del_p.S374fs	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	511					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGAGCTGGGTGGACTTGTAGTT	0.54		NaN											NaN	NaN	NaN	NaN	NaN	10	100	---		---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31884623	31884623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr22:31884623delG	uc003akz.1	-	2	246	c.82delC	c.(82-84)CATfs	p.H28fs	EIF4ENIF1_uc003ala.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alb.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alc.1_Frame_Shift_Del_p.H28fs	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	28						nucleus	protein binding|protein transporter activity			ovary(1)	1						GTATAGCGATGGGGGCATTTG	0.413		NaN											NaN	NaN	NaN	NaN	NaN	33	21	---		---	---
FLJ43860	389690	broad.mit.edu	37	8	142459777	142459778	+	Frame_Shift_Ins	INS	-	-	A	rs144781370	by1000genomes	TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chr8:142459777_142459778insA	uc003ywi.2	-	20	2630_2631	c.2549_2550insT	c.(2548-2550)CTGfs	p.L850fs	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	850							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGACAGGCCAGCAGTGTGGT	0.678		NaN											NaN	NaN	NaN	NaN	NaN	8	2	---		---	---
MAP3K15	389840	broad.mit.edu	37	X	19390910	19390910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SJ-01A-12D-A22Z-08	TCGA-FD-A3SJ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6c1352a-5aef-4cde-abf0-be423ff182ca	73723653-3c35-4915-9c0a-3298a6251202	g.chrX:19390910delC	uc004czk.1	-	23	3031	c.1394delG	c.(1393-1395)GGCfs	p.G465fs	MAP3K15_uc004czj.1_Frame_Shift_Del_p.G425fs|MAP3K15_uc004czi.1_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	990							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					CGAGGCCAAGCCCCGGTCTTC	0.612		NaN											NaN	NaN	NaN	NaN	NaN	20	37	---		---	---
MARK2	2011	broad.mit.edu	37	11	63663087	63663089	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:63663087_63663089delCTC	uc001nxw.2	+	3	849_851	c.270_272delCTC	c.(268-273)AACTCC>AAC	p.S93del	MARK2_uc001nxx.2_In_Frame_Del_p.S93del|MARK2_uc001nxy.2_In_Frame_Del_p.S93del|MARK2_uc001nxv.3_In_Frame_Del_p.S93del|MARK2_uc001nxz.3_In_Frame_Del_p.S60del|MARK2_uc009yoy.2_In_Frame_Del_p.S60del	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	93	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.N57K(1)		stomach(1)|ovary(1)|lung(1)	3						CTCAACTGAACTCCTCCAGCCTC	0.35		NaN											NaN	NaN	NaN	NaN	NaN	29	173	---		---	---
C12orf35	55196	broad.mit.edu	37	12	32138036	32138037	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:32138036_32138037insTA	uc001rks.2	+	4	4561_4562	c.4147_4148insTA	c.(4147-4149)TTAfs	p.L1383fs	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1383										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGGGAACGTATTAGATATGGAA	0.347		NaN											NaN	NaN	NaN	NaN	NaN	11	66	---		---	---
MLL2	8085	broad.mit.edu	37	12	49424468	49424475	+	Frame_Shift_Del	DEL	GACTGGGC	GACTGGGC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GACTGGGC	-	GACTGGGC	GACTGGGC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49424468_49424475delGACTGGGC	uc001rta.3	-	41	13748_13755	c.13748_13755delGCCCAGTC	c.(13747-13755)TGCCCAGTCfs	p.C4583fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4583_4585					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTGCCCATTGACTGGGCAGCCACTGCC	0.577		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	10	29	---	Valid	---	---
RB1	5925	broad.mit.edu	37	13	49039151	49039160	+	Frame_Shift_Del	DEL	GATCAAAGAA	GATCAAAGAA	-	rs3092905		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GATCAAAGAA	-	GATCAAAGAA	GATCAAAGAA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039151_49039160delGATCAAAGAA	uc001vcb.2	+	22	2395_2404	c.2229_2238delGATCAAAGAA	c.(2227-2238)TTGATCAAAGAAfs	p.L743fs		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	743_746	Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACGTGTTTTGATCAAAGAAGAGGAGTATG	0.286		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			NaN	NaN	NaN	NaN	NaN	7	39	---	Valid	---	---
FOXA1	3169	broad.mit.edu	37	14	38061854	38061862	+	In_Frame_Del	DEL	GTTCATGGA	GTTCATGGA	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GTTCATGGA	-	GTTCATGGA	GTTCATGGA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:38061854_38061862delGTTCATGGA	uc001wuf.2	-	2	439_447	c.127_135delTCCATGAAC	c.(127-135)TCCATGAACdel	p.SMN43del	FOXA1_uc010tpz.1_In_Frame_Del_p.SMN10del	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	43_45					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGTAGGTGTTCATGGAGTTCATGGAG	0.608		NaN											NaN	NaN	NaN	NaN	NaN	21	89	---	Valid	---	---
CORO1A	11151	broad.mit.edu	37	16	30198259	30198260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:30198259_30198260insT	uc002dww.2	+	4	566_567	c.444_445insT	c.(442-447)CTCAGTfs	p.L148fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzq.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzr.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc002dwx.2_Frame_Shift_Ins_p.L42fs|CORO1A_uc002dwy.1_5'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	148_149	WD 3.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						ACGTGCTGCTCAGTGCAGGTGC	0.673		NaN											NaN	NaN	NaN	NaN	NaN	11	42	---		---	---
ZNF750	79755	broad.mit.edu	37	17	80789041	80789042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:80789041_80789042insA	uc002kga.2	-	2	1600_1601	c.1289_1290insT	c.(1288-1290)CTGfs	p.L430fs	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	430						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGAGGTCGTACAGGCCTTCGCA	0.624		NaN											NaN	NaN	NaN	NaN	NaN	24	86	---		---	---
EPB41L3	23136	broad.mit.edu	37	18	5406924	5406928	+	Frame_Shift_Del	DEL	TTGGT	TTGGT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:5406924_5406928delTTGGT	uc002kmt.1	-	16	2283_2287	c.2197_2201delACCAA	c.(2197-2202)ACCAACfs	p.T733fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.T564fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.T552fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.T443fs|EPB41L3_uc002kms.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wze.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzf.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzg.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010dkr.2_Frame_Shift_Del_p.T125fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	733_734	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTCGCTAATGTTGGTTTGATGTTTC	0.429		NaN											NaN	NaN	NaN	NaN	NaN	31	100	---		---	---
MTHFD2	10797	broad.mit.edu	37	2	74432891	74432897	+	Frame_Shift_Del	DEL	GGCAGGA	GGCAGGA	-	rs6758485		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74432891_74432897delGGCAGGA	uc002skk.2	+	2	240_246	c.161_167delGGCAGGA	c.(160-168)CGGCAGGAGfs	p.R54fs	MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Frame_Shift_Del_p.R54fs|MTHFD2_uc010yrp.1_Intron	NM_006636	NP_006627	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase 2	54_56					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding				0					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGGAAGTGCGGCAGGAGGTAGAAGAG	0.498		NaN											NaN	NaN	NaN	NaN	NaN	30	42	---		---	---
EIF4A2	1974	broad.mit.edu	37	3	186503971	186503974	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186503971_186503974delTGTT	uc003fqs.2	+	6	575_578	c.536_539delTGTT	c.(535-540)ATGTTTfs	p.M179fs	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.M180fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.M52fs|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	179_180	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGATCAAAATGTTTGTTTTGGAT	0.319		NaN	T	BCL6	NHL								NaN	NaN	NaN	NaN	NaN	40	46	---		---	---
TSPYL2	64061	broad.mit.edu	37	X	53111922	53111923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:53111922_53111923insG	uc004drw.2	+	1	374_375	c.242_243insG	c.(241-243)GAGfs	p.E81fs	TSPYL2_uc004drv.2_Frame_Shift_Ins_p.E81fs|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	81					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						ATTCTCGAGGAGGGGGGGATCC	0.693		NaN											NaN	NaN	NaN	NaN	NaN	5	4	---		---	---
MED12	9968	broad.mit.edu	37	X	70339253	70339258	+	In_Frame_Del	DEL	GGTTTC	GGTTTC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:70339253_70339258delGGTTTC	uc004dyy.2	+	2	329_334	c.130_135delGGTTTC	c.(130-135)GGTTTCdel	p.GF44del	MED12_uc011mpq.1_In_Frame_Del_p.GF44del|MED12_uc004dyz.2_In_Frame_Del_p.GF44del|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	44_45					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGTAAAACAAGGTTTCAATAACCAGC	0.413		NaN											NaN	NaN	NaN	NaN	NaN	5	3	---		---	---
STAG2	10735	broad.mit.edu	37	X	123179177	123179178	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123179177_123179178delAC	uc004etz.3	+	7	965_966	c.626_627delAC	c.(625-627)GACfs	p.D209fs	STAG2_uc004eua.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eub.2_Frame_Shift_Del_p.D209fs|STAG2_uc004euc.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eud.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eue.2_Frame_Shift_Del_p.D209fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	209					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GGATTGTCTGACTCACAAGTCA	0.361		NaN											NaN	NaN	NaN	NaN	NaN	111	65	---	Valid	---	---
IL22RA1	58985	broad.mit.edu	37	1	24463780	24463780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:24463780delC	uc001biq.1	-	3	235	c.196delG	c.(196-198)GTGfs	p.V66fs	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Frame_Shift_Del_p.V66fs	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	66	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTCTTTGCCACCCAGTCCCTC	0.587		NaN											NaN	NaN	NaN	NaN	NaN	22	75	---		---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs71859853		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:124750448_124750453delCGGAGT	uc001qbc.2	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)CGGAGTdel	p.RS1367del	ROBO3_uc001qbd.2_In_Frame_Del_p.RS292del|ROBO3_uc010sar.1_In_Frame_Del_p.RS416del|ROBO3_uc001qbe.2_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1367_1368	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.519		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
CAB39L	81617	broad.mit.edu	37	13	49957036	49957037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:49957036_49957037insT	uc001vcw.2	-	2	508_509	c.10_11insA	c.(10-12)ATGfs	p.M4fs	CAB39L_uc001vcx.2_Frame_Shift_Ins_p.M4fs|CAB39L_uc010adf.2_Frame_Shift_Ins_p.M1fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	4					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAACAAAGGCATTTTTTTCATG	0.287		NaN											NaN	NaN	NaN	NaN	NaN	16	63	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38061263	38061263	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:38061263delG	uc001wuf.2	-	2	1038	c.726delC	c.(724-726)TCCfs	p.S242fs	FOXA1_uc010tpz.1_Frame_Shift_Del_p.S209fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	242	Fork-head.				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCGTCCAGTAGGAGCCCTTGC	0.587		NaN											NaN	NaN	NaN	NaN	NaN	46	39	---	Valid	---	---
SPG21	51324	broad.mit.edu	37	15	65275846	65275846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:65275846delT	uc002aod.2	-	2	155	c.62delA	c.(61-63)AAGfs	p.K21fs	SPG21_uc002aoe.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhb.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhc.2_5'UTR	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	21					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						CATACATACCTTTTTAAGGGG	0.333		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24807240delA	uc002dmm.2	+	9	3655	c.3541delA	c.(3541-3543)AAAfs	p.K1181fs	TNRC6A_uc010bxs.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.2_Frame_Shift_Del_p.K869fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1181	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.224		NaN											NaN	NaN	NaN	NaN	NaN	7	164	---		---	---
MYOM1	8736	broad.mit.edu	37	18	3164366	3164366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:3164366delG	uc002klp.2	-	10	1745	c.1411delC	c.(1411-1413)CATfs	p.H471fs	MYOM1_uc002klq.2_Frame_Shift_Del_p.H471fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	471	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGTTGAGATGGGAAAATGTC	0.393		NaN											NaN	NaN	NaN	NaN	NaN	9	15	---		---	---
NGEF	25791	broad.mit.edu	37	2	233744322	233744324	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:233744322_233744324delCTC	uc002vts.2	-	15	2256_2258	c.2008_2010delGAG	c.(2008-2010)GAGdel	p.E670del	NGEF_uc010zmm.1_In_Frame_Del_p.E393del|NGEF_uc010fyg.1_In_Frame_Del_p.E578del	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	670	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GATTCAAGATCTCCTCAGTCATG	0.581		NaN											NaN	NaN	NaN	NaN	NaN	44	106	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			-	GG	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:36652009_36652010insGG	uc003omm.3	+	2	253_254	c.131_132insGG	c.(130-132)GAGfs	p.E44fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	44					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGCATCCAGGAGGCCCGTGAGC	0.658		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	17	40	---	Valid	---	---
UNC5CL	222643	broad.mit.edu	37	6	40996310	40996316	+	Frame_Shift_Del	DEL	GGGGCTG	GGGGCTG	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:40996310_40996316delGGGGCTG	uc003opi.2	-	9	1442_1448	c.1353_1359delCAGCCCC	c.(1351-1359)CGCAGCCCCfs	p.R451fs		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	451_453	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCGCTGCGGGGCTGCGCTGGCAGG	0.671		NaN											NaN	NaN	NaN	NaN	NaN	12	66	---		---	---
MLL3	58508	broad.mit.edu	37	7	151845284	151845288	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			GAAGA	-	GAAGA	GAAGA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:151845284_151845288delGAAGA	uc003wla.2	-	52	13943_13947	c.13724_13728delTCTTC	c.(13723-13728)CTCTTCfs	p.L4575fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.L3693fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.L733fs|MLL3_uc003wky.2_Frame_Shift_Del_p.L2139fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4575_4576	FYR N-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGCCCACAGGGAAGAGTGCTTTAGG	0.566		NaN	N		medulloblastoma								NaN	NaN	NaN	NaN	NaN	16	41	---	Valid	---	---
ARID1A	8289	broad.mit.edu	37	1	27056181	27056191	+	Frame_Shift_Del	DEL	CAGCCATATGG	CAGCCATATGG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			CAGCCATATGG	-	CAGCCATATGG	CAGCCATATGG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27056181_27056191delCAGCCATATGG	uc001bmv.1	+	2	1550_1560	c.1177_1187delCAGCCATATGG	c.(1177-1188)CAGCCATATGGCfs	p.Q393fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q393fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q10fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	393_396					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y395*(1)|p.Q393*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGGCGGGACTAAC	0.545		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	22	65	---	Valid	---	---
IFI44L	10964	broad.mit.edu	37	1	79102839	79102840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:79102839_79102840insA	uc010oro.1	+	6	1178_1179	c.999_1000insA	c.(997-1002)TCTAAAfs	p.S333fs	IFI44L_uc010orp.1_Frame_Shift_Ins_p.S70fs|IFI44L_uc010orq.1_Frame_Shift_Ins_p.S70fs	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	333_334						cytoplasm					0						ATCTCTACTCTAAAATGTTGGC	0.327		NaN											NaN	NaN	NaN	NaN	NaN	21	52	---		---	---
GPR37L1	9283	broad.mit.edu	37	1	202092266	202092267	+	In_Frame_Ins	INS	-	-	ACA			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:202092266_202092267insACA	uc001gxj.2	+	1	238_239	c.175_176insACA	c.(175-177)TAT>TACAAT	p.59_60insN		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	59_60	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CGTGCAGCAGTATGTGCCTGAG	0.673		NaN											NaN	NaN	NaN	NaN	NaN	14	17	---		---	---
PLEKHA6	22874	broad.mit.edu	37	1	204197926	204197926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204197926delG	uc001hau.2	-	20	3132	c.2815delC	c.(2815-2817)CTGfs	p.L939fs		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	939										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCAGGGCTCAGGGGAGTGTCA	0.557		NaN											NaN	NaN	NaN	NaN	NaN	15	43	---		---	---
MS4A2	2206	broad.mit.edu	37	11	59861476	59861476	+	Frame_Shift_Del	DEL	C	C	-	rs143436537	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:59861476delC	uc001nop.2	+	6	679	c.577delC	c.(577-579)CTTfs	p.L193fs	MS4A2_uc009ymu.2_3'UTR	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	193	Helical; (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	CATTCTGGGACTTGGTAGTGC	0.403		NaN											NaN	NaN	NaN	NaN	NaN	8	36	---		---	---
H2AFX	3014	broad.mit.edu	37	11	118965789	118965815	+	In_Frame_Del	DEL	CCTGGGCGATCGTCACGCCGCCCAGCA	CCTGGGCGATCGTCACGCCGCCCAGCA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA	uc001pvg.2	-	1	363_389	c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG	c.(289-318)CTGCTGGGCGGCGTGACGATCGCCCAGGGA>CGA	p.97_106LLGGVTIAQG>R	H2AFX_uc001pvh.1_RNA	NM_002105	NP_002096	P16104	H2AX_HUMAN	H2A histone family, member X	97_106					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		AGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAG	0.692		NaN						Chromatin_Structure|Direct_reversal_of_damage			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	16	76	---		---	---
C14orf49	161176	broad.mit.edu	37	14	95912274	95912289	+	Frame_Shift_Del	DEL	CTGTTATGCAGCAGGT	CTGTTATGCAGCAGGT	-	rs28526182	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:95912274_95912289delCTGTTATGCAGCAGGT	uc001yei.3	-	8	1604_1619	c.1589_1604delACCTGCTGCATAACAG	c.(1588-1605)GACCTGCTGCATAACAGCfs	p.D530fs	C14orf49_uc010avi.2_Frame_Shift_Del_p.D530fs|C14orf49_uc001yej.1_Frame_Shift_Del_p.D530fs	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	530_535	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CTGCAGGAGGCTGTTATGCAGCAGGTCTCTGTCCCT	0.528		NaN											NaN	NaN	NaN	NaN	NaN	17	33	---		---	---
NF1	4763	broad.mit.edu	37	17	29556856	29556866	+	Frame_Shift_Del	DEL	TTATTGACTGA	TTATTGACTGA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08			TTATTGACTGA	-	TTATTGACTGA	TTATTGACTGA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:29556856_29556866delTTATTGACTGA	uc002hgg.2	+	22	3187_3197	c.2854_2864delTTATTGACTGA	c.(2854-2865)TTATTGACTGATfs	p.L952fs	NF1_uc002hgh.2_Frame_Shift_Del_p.L952fs|NF1_uc010csn.1_Frame_Shift_Del_p.L812fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	952_955					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTTAGGTTTTATTGACTGATACCAATACT	0.37		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			NaN	NaN	NaN	NaN	NaN	23	49	---	Valid	---	---
EPHX3	79852	broad.mit.edu	37	19	15342144	15342157	+	Frame_Shift_Del	DEL	CAAGTCCACAGCCA	CAAGTCCACAGCCA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15342144_15342157delCAAGTCCACAGCCA	uc002nap.2	-	3	589_602	c.380_393delTGGCTGTGGACTTG	c.(379-393)GTGGCTGTGGACTTGfs	p.V127fs	EPHX3_uc002naq.2_Frame_Shift_Del_p.V127fs	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	127_131						extracellular region	hydrolase activity				0						CATAGCCTCGCAAGTCCACAGCCACAACATGGAA	0.621		NaN											NaN	NaN	NaN	NaN	NaN	11	49	---		---	---
FCHO1	23149	broad.mit.edu	37	19	17877494	17877499	+	In_Frame_Del	DEL	TGGGAG	TGGGAG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:17877494_17877499delTGGGAG	uc010ebb.2	+	6	400_405	c.211_216delTGGGAG	c.(211-216)TGGGAGdel	p.WE71del	FCHO1_uc002nhg.3_In_Frame_Del_p.WE71del|FCHO1_uc002nhh.2_In_Frame_Del_p.WE71del|FCHO1_uc010xpw.1_In_Frame_Del_p.WE21del|FCHO1_uc010ebc.1_In_Frame_Del_p.WE78del	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	71_72	FCH.									breast(1)	1						CGCCCCGCTCTGGGAGGTCTTCCGCG	0.621		NaN											NaN	NaN	NaN	NaN	NaN	8	20	---		---	---
C3orf17	25871	broad.mit.edu	37	3	112724493	112724519	+	In_Frame_Del	DEL	CATGGATGCCTCTAAGATTTTCATGAA	CATGGATGCCTCTAAGATTTTCATGAA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA	uc003dzr.2	-	9	1629_1655	c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG	c.(1567-1596)ATTCATGAAAATCTTAGAGGCATCCATGAA>AAA	p.523_532IHENLRGIHE>K	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc011bhz.1_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc010hqh.2_In_Frame_Del_p.148_157IHENLRGIHE>K|C3orf17_uc003dzt.2_In_Frame_Del_p.426_435IHENLRGIHE>K|C3orf17_uc003dzs.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_uc010hqg.2_In_Frame_Del_p.348_357IHENLRGIHE>K|C3orf17_uc011bia.1_In_Frame_Del_p.320_329IHENLRGIHE>K|C3orf17_uc003dzu.2_In_Frame_Del_p.452_461IHENLRGIHE>K|C3orf17_uc011bib.1_In_Frame_Del_p.412_421IHENLRGIHE>K|C3orf17_uc011bic.1_In_Frame_Del_p.356_365IHENLRGIHE>K|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	523_532						integral to membrane					0						GTTTCATTTTCATGGATGCCTCTAAGATTTTCATGAATCATTTTCTC	0.361		NaN											NaN	NaN	NaN	NaN	NaN	26	73	---		---	---
MAGEF1	64110	broad.mit.edu	37	3	184429408	184429414	+	Frame_Shift_Del	DEL	CCAAGGC	CCAAGGC	-	rs6770319	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:184429408_184429414delCCAAGGC	uc003fpa.2	-	1	423_429	c.196_202delGCCTTGG	c.(196-204)GCCTTGGCAfs	p.A66fs		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	66_68								p.L67*(1)		ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTGCGCCTTGCCAAGGCTTTGGCCGCC	0.681		NaN											NaN	NaN	NaN	NaN	NaN	33	57	---		---	---
LRRC66	339977	broad.mit.edu	37	4	52863983	52863983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:52863983delC	uc003gzi.2	-	3	800	c.787delG	c.(787-789)GCAfs	p.A263fs		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	263						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGAAAGACTGCCACACTATCA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	9	170	---		---	---
PPAP2A	8611	broad.mit.edu	37	5	54721068	54721070	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54721068_54721070delGTT	uc003jqa.2	-	6	1235_1237	c.819_821delAAC	c.(817-822)ACAACT>ACT	p.273_274TT>T	SKIV2L2_uc003jpy.3_3'UTR|SKIV2L2_uc011cqi.1_3'UTR|PPAP2A_uc003jpz.2_In_Frame_Del_p.274_275TT>T|PPAP2A_uc003jqb.2_RNA	NM_003711	NP_003702	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A isoform 1	273_274	Cytoplasmic (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			ovary(2)	2		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTGATTCCCAGTTGTTGGTGTTT	0.438		NaN											NaN	NaN	NaN	NaN	NaN	30	44	---		---	---
G3BP1	10146	broad.mit.edu	37	5	151179821	151179822	+	Frame_Shift_Ins	INS	-	-	GGTGG			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:151179821_151179822insGGTGG	uc003lun.2	+	10	1169_1170	c.998_999insGGTGG	c.(997-999)ATGfs	p.M333fs	G3BP1_uc003lum.2_Frame_Shift_Ins_p.M333fs|G3BP1_uc011dcu.1_Frame_Shift_Ins_p.M151fs|G3BP1_uc010jhz.2_Frame_Shift_Ins_p.M151fs|G3BP1_uc003luq.2_Frame_Shift_Ins_p.M1fs	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	333					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCCGAAGAATGGTGAGACACC	0.416		NaN											NaN	NaN	NaN	NaN	NaN	14	24	---		---	---
PRKD3	23683	broad.mit.edu	37	2	37513484	37513484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr2:37513484delC	uc002rqd.2	-	5	1301	c.746delG	c.(745-747)AGAfs	p.R249fs	PRKD3_uc002rqf.1_Frame_Shift_Del_p.R249fs	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	249					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AGAAGGAATTCTCTTACTTGG	0.418		NaN											NaN	NaN	NaN	NaN	NaN	15	52	---		---	---
EP300	2033	broad.mit.edu	37	22	41564578	41564580	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			GAA	-	GAA	GAA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr22:41564578_41564580delGAA	uc003azl.3	+	24	4395_4397	c.4000_4002delGAA	c.(4000-4002)GAAdel	p.E1334del		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1334					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAAAACCGTGGAAGTAAAACCAG	0.429		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				NaN	NaN	NaN	NaN	NaN	15	49	---	Valid	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652198	36652199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr6:36652198_36652199insG	uc003omm.3	+	2	442_443	c.320_321insG	c.(319-321)GAGfs	p.E107fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E141fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E107fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E107fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	107					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GGGACAGCAGAGGAAGACCATG	0.653		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	8	19	---	Valid	---	---
LY96	23643	broad.mit.edu	37	8	74903693	74903693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr8:74903693delT	uc003yad.2	+	1	107	c.16delT	c.(16-18)TTTfs	p.F6fs		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	6					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ACCATTTCTGTTTTTTTCCAC	0.368		NaN											NaN	NaN	NaN	NaN	NaN	23	75	---		---	---
RAD23B	5887	broad.mit.edu	37	9	110062443	110062451	+	In_Frame_Del	DEL	ATTGAATCT	ATTGAATCT	-			TCGA-FD-A3SO-01A-11D-A22Z-08	TCGA-FD-A3SO-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab0a322d-4945-4ed1-88fa-d36a7e13a9db	c21f9933-734e-4834-a89d-5c4b683cecae	g.chr9:110062443_110062451delATTGAATCT	uc004bde.2	+	2	455_463	c.88_96delATTGAATCT	c.(88-96)ATTGAATCTdel	p.IES30del	RAD23B_uc011lwa.1_In_Frame_Del_p.IES30del|RAD23B_uc011lwb.1_In_Frame_Del_p.IES9del	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	30_32	Ubiquitin-like.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						GAAAGAGAAGATTGAATCTGAAAAGGGGA	0.287		NaN						Direct_reversal_of_damage|NER					NaN	NaN	NaN	NaN	NaN	16	55	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27101322	27101326	+	Frame_Shift_Del	DEL	CAGAT	CAGAT	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08			CAGAT	-	CAGAT	CAGAT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:27101322_27101326delCAGAT	uc001bmv.1	+	18	4977_4981	c.4604_4608delCAGAT	c.(4603-4608)ACAGATfs	p.T1535fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T1534fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.T1152fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T381fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1535_1536					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGCTGCACACAGATCAGAGGGCCA	0.605		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	13	76	---	Valid	---	---
ZZZ3	26009	broad.mit.edu	37	1	78098224	78098224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr1:78098224delT	uc001dhq.2	-	5	1292	c.816delA	c.(814-816)CAAfs	p.Q272fs	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Frame_Shift_Del_p.Q272fs|ZZZ3_uc001dhp.2_Frame_Shift_Del_p.Q272fs	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TGACCTGCACTTGTGAATCTG	0.458		NaN											NaN	NaN	NaN	NaN	NaN	37	246	---		---	---
TACC2	10579	broad.mit.edu	37	10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr10:123844356delC	uc001lfv.2	+	4	2701	c.2341delC	c.(2341-2343)CCCfs	p.P781fs	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.P781fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.P781fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGCCACATCCCCCCCAGGG	0.642		NaN											NaN	NaN	NaN	NaN	NaN	10	93	---		---	---
DNAH3	55567	broad.mit.edu	37	16	20952843	20952844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr16:20952843_20952844insG	uc010vbe.1	-	59	11533_11534	c.11533_11534insC	c.(11533-11535)CAAfs	p.Q3845fs	DNAH3_uc010vbd.1_Frame_Shift_Ins_p.Q1280fs	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3845					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAGAATGTCTTGTGCCAACTCC	0.475		NaN											NaN	NaN	NaN	NaN	NaN	36	124	---		---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:17898126delT	uc002rco.2	-	14	1524	c.1228delA	c.(1228-1230)ATAfs	p.I410fs	SMC6_uc010exo.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.I410fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.I436fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.I436fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.I410fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	410	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343		NaN											NaN	NaN	NaN	NaN	NaN	7	116	---		---	---
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr2:20405159_20405160insG	uc002rdo.1	-	2	391_392	c.92_93insC	c.(91-93)CCTfs	p.P31fs	SDC1_uc002rdp.1_Frame_Shift_Ins_p.P31fs|SDC1_uc010exv.2_Frame_Shift_Ins_p.P31fs|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	31	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.55		NaN											NaN	NaN	NaN	NaN	NaN	7	106	---		---	---
RARB	5915	broad.mit.edu	37	3	25216052	25216053	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:25216052_25216053delCC	uc011awl.1	+	1	230_231	c.164_165delCC	c.(163-165)ACCfs	p.T55fs		NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	55	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GGATGCAGCACCCCGTCGCCGG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	13	42	---		---	---
ALS2CL	259173	broad.mit.edu	37	3	46714826	46714827	+	Splice_Site	DEL	CA	CA	-			TCGA-FD-A3SP-01A-31D-A22Z-08	TCGA-FD-A3SP-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d838ad09-33b5-4ead-b405-6ce558a5ed59	14d4450c-5966-46b9-91fe-d4b745a678ff	g.chr3:46714826_46714827delCA	uc003cqa.1	-	22	2662	c.2472_splice	c.e22+1	p.Q824_splice	ALS2CL_uc003cpx.1_Splice_Site_p.Q171_splice|ALS2CL_uc003cpy.1_Splice_Site|ALS2CL_uc003cpz.1_Splice_Site_p.Q339_splice|ALS2CL_uc003cqb.1_Splice_Site_p.Q824_splice|ALS2CL_uc003cqc.1_Splice_Site	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1						endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCTCCCTCTCACCTGATTGCT	0.609		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ELF3	1999	broad.mit.edu	37	1	201983027	201983028	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:201983027_201983028insA	uc001gxg.3	+	7	4068_4069	c.876_877insA	c.(874-879)CTCATGfs	p.L292fs	ELF3_uc001gxi.3_Frame_Shift_Ins_p.L292fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.L292fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	292_293	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						ACGAGGGCCTCATGAAGTGGGA	0.574		NaN											NaN	NaN	NaN	NaN	NaN	7	20	---	Valid	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr1:237024474delA	uc001hyi.3	+	20	2516	c.2093delA	c.(2092-2094)CAAfs	p.Q698fs	MTR_uc010pxw.1_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.279		NaN											NaN	NaN	NaN	NaN	NaN	7	132	---		---	---
ZWILCH	55055	broad.mit.edu	37	15	66820228	66820229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr15:66820228_66820229insA	uc002aqb.2	+	10	1193_1194	c.947_948insA	c.(946-948)ACAfs	p.T316fs	ZWILCH_uc010bhu.1_Frame_Shift_Ins_p.T202fs|ZWILCH_uc002aqa.2_Frame_Shift_Ins_p.T202fs|ZWILCH_uc010bhv.2_Frame_Shift_Ins_p.T202fs	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	316					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						GGTGATTCTACAAAAAAAGACA	0.317		NaN											NaN	NaN	NaN	NaN	NaN	26	46	---		---	---
TMEM102	284114	broad.mit.edu	37	17	7340636	7340636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr17:7340636delG	uc002ggx.1	+	3	1611	c.1338delG	c.(1336-1338)GAGfs	p.E446fs	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Frame_Shift_Del_p.E446fs|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	446	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				GAGTGCTCGAGGCCGGGACGT	0.697		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr22:30742328_30742330delCTG	uc003ahl.2	-	3	496_498	c.364_366delCAG	c.(364-366)CAGdel	p.Q122del		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						GCTGGGTGGTCTGCTGCTGCTGC	0.596		NaN											NaN	NaN	NaN	NaN	NaN	8	97	---		---	---
TCTA	6988	broad.mit.edu	37	3	49450045	49450047	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr3:49450045_49450047delTAC	uc003cwv.3	+	1	407_409	c.186_188delTAC	c.(184-189)AATACA>AAA	p.62_63NT>K	RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	62_63	Extracellular (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTACGGGAATACAGTGACCGGG	0.635		NaN											NaN	NaN	NaN	NaN	NaN	30	84	---		---	---
C9orf41	138199	broad.mit.edu	37	9	77642981	77642983	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:77642981_77642983delCTC	uc004ajq.2	-	1	328_330	c.175_177delGAG	c.(175-177)GAGdel	p.E59del	C9orf41_uc011lsi.1_RNA	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	59										ovary(1)|skin(1)	2						GCTCAAGCCTCTCCTCCTCCTCC	0.547		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SPTAN1	6709	broad.mit.edu	37	9	131388682	131388682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chr9:131388682delT	uc004bvl.3	+	48	6390	c.6277delT	c.(6277-6279)TTCfs	p.F2093fs	SPTAN1_uc004bvm.3_Frame_Shift_Del_p.F2098fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.F2073fs|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2093	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GGAGGACCTCTTCCTGACCTT	0.582		NaN											NaN	NaN	NaN	NaN	NaN	38	90	---		---	---
STAG2	10735	broad.mit.edu	37	X	123227957	123227974	+	In_Frame_Del	DEL	ATGAGGGAATGGATTTTG	ATGAGGGAATGGATTTTG	-			TCGA-FD-A3SQ-01A-21D-A22Z-08	TCGA-FD-A3SQ-10A-01D-A22Z-08			ATGAGGGAATGGATTTTG	-	ATGAGGGAATGGATTTTG	ATGAGGGAATGGATTTTG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f	42025d7c-6875-430f-a4e3-0ef370339cc2	g.chrX:123227957_123227974delATGAGGGAATGGATTTTG	uc004etz.3	+	31	3896_3913	c.3557_3574delATGAGGGAATGGATTTTG	c.(3556-3576)AATGAGGGAATGGATTTTGAC>AAC	p.EGMDFD1187del	STAG2_uc004eua.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eub.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004euc.2_In_Frame_Del_p.EGMDFD1224del|STAG2_uc004eud.2_In_Frame_Del_p.EGMDFD1187del|STAG2_uc004eue.2_In_Frame_Del_p.EGMDFD1187del	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1187_1192					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GAGGATCTTAATGAGGGAATGGATTTTGACACCATGGA	0.353		NaN											NaN	NaN	NaN	NaN	NaN	10	42	---	Valid	---	---
CCDC83	220047	broad.mit.edu	37	11	85593685	85593685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr11:85593685delA	uc001pbh.1	+	4	822	c.310delA	c.(310-312)AAGfs	p.K104fs	CCDC83_uc001pbg.1_Frame_Shift_Del_p.K104fs|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Frame_Shift_Del_p.K61fs	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	104	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAAATGGAAGTTTGAAAG	0.378		NaN											NaN	NaN	NaN	NaN	NaN	23	75	---		---	---
TP53	7157	broad.mit.edu	37	17	7577104	7577105	+	Frame_Shift_Ins	INS	-	-	GGACAGGC			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08			-	GGACAGGC	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr17:7577104_7577105insGGACAGGC	uc002gim.2	-	8	1027_1028	c.833_834insGCCTGTCC	c.(832-834)CCTfs	p.P278fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P146fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P278fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P278fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P278fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	278	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.R280fs*65(2)|p.P278fs*28(2)|p.?(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTCTCTCCCAGGACAGGCACA	0.554		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	10	22	---	Valid	---	---
MBD1	4152	broad.mit.edu	37	18	47802039	47802039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr18:47802039delG	uc010dow.1	-	8	1160	c.723delC	c.(721-723)CCCfs	p.P241fs	MBD1_uc002lef.2_Frame_Shift_Del_p.P23fs|MBD1_uc002leg.2_Frame_Shift_Del_p.P192fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.P267fs|MBD1_uc002leh.3_Frame_Shift_Del_p.P241fs|MBD1_uc002len.2_Frame_Shift_Del_p.P241fs|MBD1_uc002lei.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lej.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lek.3_Frame_Shift_Del_p.P192fs|MBD1_uc002lel.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lem.3_Frame_Shift_Del_p.P241fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.P241fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.P241fs|MBD1_uc010dox.1_Frame_Shift_Del_p.P241fs|MBD1_uc002leo.2_Frame_Shift_Del_p.P241fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	241	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAAGGCAGATGGGGCAATGGC	0.637		NaN											NaN	NaN	NaN	NaN	NaN	8	48	---		---	---
CCDC138	165055	broad.mit.edu	37	2	109403310	109403310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr2:109403310delA	uc002ten.1	+	1	92	c.32delA	c.(31-33)CAGfs	p.Q11fs	CCDC138_uc002teo.1_Frame_Shift_Del_p.Q11fs|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	11											0						CCACCGGGGCAGGATTTAGTA	0.667		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr3:12046124_12046126delAGC	uc003bwm.2	+	1	263_265	c.99_101delAGC	c.(97-102)CAACCG>CAG	p.P40del	SYN2_uc003bwl.1_In_Frame_Del_p.P40del	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	40					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AGCCCCAGCAAGCGCCGAcgccg	0.345		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
INPP4B	8821	broad.mit.edu	37	4	143003291	143003291	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr4:143003291delG	uc003iix.3	-	26	3130	c.2535delC	c.(2533-2535)GCCfs	p.A845fs	INPP4B_uc003iiw.3_Frame_Shift_Del_p.A845fs|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Frame_Shift_Del_p.A660fs|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	845					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TCCTGTCTTTGGCACTTTTAC	0.408		NaN											NaN	NaN	NaN	NaN	NaN	26	53	---		---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SR-01A-11D-A22Z-08	TCGA-FD-A3SR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8dea890-442e-4a02-936f-9bf2d284533b	da22f11e-a35b-469e-8de2-ded22821adab	g.chr6:29694802_29694803insT	uc003nno.3	+	7	1303_1304	c.1179_1180insT	c.(1177-1182)TTGTTTfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TGTGGATCTTGTTTTTTTTGTG	0.535		NaN											NaN	NaN	NaN	NaN	NaN	7	330	---		---	---
NASP	4678	broad.mit.edu	37	1	46082055	46082055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:46082055delC	uc001coi.1	+	12	2171	c.2069delC	c.(2068-2070)TCAfs	p.S690fs	NASP_uc001coh.1_Frame_Shift_Del_p.S692fs|NASP_uc001coj.1_Frame_Shift_Del_p.S351fs|NASP_uc010olr.1_Frame_Shift_Del_p.S626fs|NASP_uc001col.1_Frame_Shift_Del_p.S198fs	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	690					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAGGCTCTTCAGTCTCCATG	0.368		NaN											NaN	NaN	NaN	NaN	NaN	79	129	---		---	---
USP33	23032	broad.mit.edu	37	1	78180315	78180315	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr1:78180315delA	uc001dht.2	-	20	2639	c.2292delT	c.(2290-2292)TTTfs	p.F764fs	USP33_uc001dhs.2_Frame_Shift_Del_p.F485fs|USP33_uc001dhu.2_Frame_Shift_Del_p.F733fs|USP33_uc001dhv.2_Frame_Shift_Del_p.F569fs|USP33_uc001dhw.2_Frame_Shift_Del_p.F756fs	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	764	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						GAATACAAAGAAAGTCATTAT	0.368		NaN											NaN	NaN	NaN	NaN	NaN	43	82	---		---	---
HIP1R	9026	broad.mit.edu	37	12	123345546	123345546	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr12:123345546delG	uc001udj.1	+	29	2909	c.2850delG	c.(2848-2850)GTGfs	p.V950fs	HIP1R_uc001udk.1_Frame_Shift_Del_p.V215fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	950	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAATGTGGTGGCCTCCACCA	0.637		NaN											NaN	NaN	NaN	NaN	NaN	20	18	---		---	---
SACS	26278	broad.mit.edu	37	13	23915245	23915246	+	In_Frame_Ins	INS	-	-	TTC			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr13:23915245_23915246insTTC	uc001uon.2	-	10	3358_3359	c.2769_2770insGAA	c.(2767-2772)insGAA	p.923_924insE	SACS_uc001uoo.2_In_Frame_Ins_p.776_777insE|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	923_924					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATTGCCAATTCTTGAATAA	0.376		NaN											NaN	NaN	NaN	NaN	NaN	41	98	---		---	---
KCTD8	386617	broad.mit.edu	37	4	44176909	44176909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr4:44176909delC	uc003gwu.2	-	2	1604	c.1320delG	c.(1318-1320)ATGfs	p.M440fs		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	440						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TACACTTTTTCATTTCTTCTT	0.398		NaN								HNSCC(17;0.042)			NaN	NaN	NaN	NaN	NaN	36	116	---		---	---
CTNND2	1501	broad.mit.edu	37	5	11199639	11199639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr5:11199639delC	uc003jfa.1	-	11	2041	c.1896delG	c.(1894-1896)CTGfs	p.L632fs	CTNND2_uc010itt.2_Frame_Shift_Del_p.L541fs|CTNND2_uc011cmy.1_Frame_Shift_Del_p.L295fs|CTNND2_uc011cmz.1_Frame_Shift_Del_p.L199fs|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Frame_Shift_Del_p.L199fs	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	632	ARM 4.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CACAGTTTTTCAGGGCAATTT	0.498		NaN											NaN	NaN	NaN	NaN	NaN	59	81	---		---	---
MYLIP	29116	broad.mit.edu	37	6	16144013	16144022	+	Frame_Shift_Del	DEL	TCGTGCTCTT	TCGTGCTCTT	-			TCGA-FD-A3SS-01A-12D-A22Z-08	TCGA-FD-A3SS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a6ff39-9f3b-4fba-b5a9-1f9d551002e9	5c843250-8dd1-488d-a5d3-76768e7ccec2	g.chr6:16144013_16144022delTCGTGCTCTT	uc003nbq.2	+	5	983_992	c.746_755delTCGTGCTCTT	c.(745-756)ATCGTGCTCTTGfs	p.I249fs	MYLIP_uc003nbr.2_Frame_Shift_Del_p.I68fs	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	249_252	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGGAACAGCATCGTGCTCTTGTTTAAAATG	0.519		NaN											NaN	NaN	NaN	NaN	NaN	40	116	---		---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:40713708_40713709delTC	uc001cfe.2	+	1	136_137	c.43_44delTC	c.(43-45)TCTfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				ovary(1)	1	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406		NaN											NaN	NaN	NaN	NaN	NaN	8	511	---		---	---
PIK3C2B	5287	broad.mit.edu	37	1	204412694	204412697	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr1:204412694_204412697delACTG	uc001haw.2	-	20	3375_3378	c.2896_2899delCAGT	c.(2896-2901)CAGTTCfs	p.Q966fs	PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.Q938fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	966_967					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGGATGCTGAACTGAGAGTCCTTG	0.569		NaN											NaN	NaN	NaN	NaN	NaN	37	254	---		---	---
SMARCC2	6601	broad.mit.edu	37	12	56559126	56559127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:56559126_56559127insG	uc001skb.2	-	26	3220_3221	c.3114_3115insC	c.(3112-3117)CCAGGGfs	p.P1038fs	SMARCC2_uc001skd.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001ska.2_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001skc.2_Frame_Shift_Ins_p.P1068fs|SMARCC2_uc010sqf.1_Frame_Shift_Ins_p.P958fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1038_1039	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGAACCCCTGGTGGGACTG	0.584		NaN											NaN	NaN	NaN	NaN	NaN	8	168	---		---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr12:122812690_122812691insT	uc001ucg.1	-	16	3158_3159	c.3052_3053insA	c.(3052-3054)AGCfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1018	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505		NaN											NaN	NaN	NaN	NaN	NaN	11	220	---		---	---
HERC2	8924	broad.mit.edu	37	15	28511100	28511101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr15:28511100_28511101insC	uc001zbj.2	-	13	1724_1725	c.1618_1619insG	c.(1618-1620)GTGfs	p.V540fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.V235fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	540	RCC1 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGGAGATCACCTTAGGCTCC	0.51		NaN											NaN	NaN	NaN	NaN	NaN	7	54	---		---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	4	572_574	c.351_353delCAG	c.(349-354)AGCAGT>AGT	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	117_118	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463		NaN											NaN	NaN	NaN	NaN	NaN	7	234	---		---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349986	65349987	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr5:65349986_65349987insT	uc003juk.1	+	21	3148_3149	c.2840_2841insT	c.(2839-2841)GATfs	p.D947fs	ERBB2IP_uc003jui.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc003juj.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqx.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqy.1_Frame_Shift_Ins_p.D947fs|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Frame_Shift_Ins_p.D943fs|ERBB2IP_uc003jul.1_Frame_Shift_Ins_p.D943fs	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	947					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCAAGTTTGATTCAAATCATA	0.386		NaN											NaN	NaN	NaN	NaN	NaN	13	69	---		---	---
FAM120B	84498	broad.mit.edu	37	6	170697422	170697423	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr6:170697422_170697423insCG	uc003qxp.2	+	7	2439_2440	c.2331_2332insCG	c.(2329-2334)GTCCGCfs	p.V777fs	FAM120B_uc003qxo.1_Frame_Shift_Ins_p.V777fs|FAM120B_uc011ehd.1_Frame_Shift_Ins_p.V109fs|FAM120B_uc010kla.1_RNA	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	777_778					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCCTTCTCGTCCGCGGCCTCAC	0.525		NaN											NaN	NaN	NaN	NaN	NaN	17	53	---		---	---
PMS2	5395	broad.mit.edu	37	7	6043619	6043621	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FJ-A3Z7-01A-12D-A23M-08	TCGA-FJ-A3Z7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	298ad91c-8d67-4240-9937-85e5769d460f	0eb62be9-ac9f-4a73-9453-6a5c109c19c1	g.chr7:6043619_6043621delTTC	uc003spl.2	-	3	319_321	c.232_234delGAA	c.(232-234)GAAdel	p.E78del	PMS2_uc003spj.2_In_Frame_Del_p.R6del|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_5'UTR|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_In_Frame_Del_p.E78del|PMS2_uc010ktf.1_In_Frame_Del_p.E78del	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	78					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTCGAAGTTTTCTTCTTCTACC	0.31		NaN	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				NaN	NaN	NaN	NaN	NaN	29	301	---		---	---
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:20880268_20880270delGAG	uc001bdj.2	+	1	1337_1339	c.802_804delGAG	c.(802-804)GAGdel	p.E272del		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.567		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr1:145415369_145415371delGAG	uc001eni.2	+	3	513_515	c.188_190delGAG	c.(187-192)CGAGGA>CGA	p.G69del	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626		NaN											NaN	NaN	NaN	NaN	NaN	7	161	---		---	---
EPS8L2	64787	broad.mit.edu	37	11	722404	722404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr11:722404delG	uc001lqt.2	+	13	1310	c.1063delG	c.(1063-1065)GTCfs	p.V355fs	EPS8L2_uc001lqu.2_Frame_Shift_Del_p.V355fs|EPS8L2_uc010qwk.1_Frame_Shift_Del_p.V371fs|EPS8L2_uc001lqv.2_Frame_Shift_Del_p.V310fs|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'UTR|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	355						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCAGATCGTCAACACCTG	0.657		NaN											NaN	NaN	NaN	NaN	NaN	47	6	---		---	---
C14orf73	91828	broad.mit.edu	37	14	103566640	103566640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr14:103566640delC	uc001ymk.2	+	1	160	c.84delC	c.(82-84)GGCfs	p.G28fs		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	28											0		Melanoma(154;0.155)	Epithelial(46;0.221)			CAGCTCAGGGCTCCCGGCGAA	0.657		NaN											NaN	NaN	NaN	NaN	NaN	7	15	---		---	---
PKD1L2	114780	broad.mit.edu	37	16	81232364	81232364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr16:81232364delC	uc002fgh.1	-	7	1446	c.1446delG	c.(1444-1446)CTGfs	p.L482fs	PKD1L2_uc002fgj.2_Frame_Shift_Del_p.L482fs	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	482	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTCAAAGGTCAGCTCTTCCG	0.562		NaN											NaN	NaN	NaN	NaN	NaN	65	61	---		---	---
QTRT1	81890	broad.mit.edu	37	19	10822952	10822953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:10822952_10822953insC	uc002mpr.2	+	6	787_788	c.762_763insC	c.(760-765)AAGCCCfs	p.K254fs	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	254_255					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CGAAGGACAAGCCCCGATATCT	0.639		NaN											NaN	NaN	NaN	NaN	NaN	39	318	---		---	---
CILP2	148113	broad.mit.edu	37	19	19650559	19650559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:19650559delC	uc002nmv.3	+	2	221	c.136delC	c.(136-138)CCCfs	p.P46fs	CILP2_uc002nmw.3_Frame_Shift_Del_p.P46fs	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	46						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						CACCGGCCAGCCCTCACCAGC	0.667		NaN											NaN	NaN	NaN	NaN	NaN	72	104	---		---	---
TPRX1	284355	broad.mit.edu	37	19	48305975	48305975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:48305975delG	uc002php.1	-	2	364	c.293delC	c.(292-294)CCGfs	p.P98fs		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	98	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ggcagggATCGGGCCAGGGCC	0.368		NaN											NaN	NaN	NaN	NaN	NaN	4	4	---		---	---
PPFIA3	8541	broad.mit.edu	37	19	49649253	49649253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:49649253delG	uc002pmr.2	+	22	3131	c.2799delG	c.(2797-2799)ACGfs	p.T933fs	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Frame_Shift_Del_p.T801fs|PPFIA3_uc002pmt.2_Frame_Shift_Del_p.T81fs|PPFIA3_uc002pmu.1_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	933						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TTACGGCCACGACCAAGCCCG	0.642		NaN									OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	50	54	---		---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr19:51961617_51961619delGCA	uc002pwt.2	-	1	90_92	c.23_25delTGC	c.(22-27)CTGCCC>CCC	p.L8del	SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.493		NaN											NaN	NaN	NaN	NaN	NaN	7	100	---		---	---
TRIB3	57761	broad.mit.edu	37	20	377174	377174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:377174delC	uc002wdm.2	+	4	1423	c.917delC	c.(916-918)GCCfs	p.A306fs	TRIB3_uc002wdn.2_Frame_Shift_Del_p.A333fs	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	306	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGGCTCACAGCCACAGGCATC	0.687		NaN											NaN	NaN	NaN	NaN	NaN	45	197	---		---	---
SPTLC3	55304	broad.mit.edu	37	20	13134777	13134777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:13134777delT	uc002wod.1	+	10	1696	c.1407delT	c.(1405-1407)GGTfs	p.G469fs		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	469					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ATATGCCTGGTAAAGTAGCGT	0.408		NaN											NaN	NaN	NaN	NaN	NaN	32	87	---		---	---
ZNFX1	57169	broad.mit.edu	37	20	47864087	47864088	+	In_Frame_Ins	INS	-	-	GGC			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr20:47864087_47864088insGGC	uc002xui.2	-	14	5720_5721	c.5473_5474insGCC	c.(5473-5475)CTG>CGCCTG	p.1824_1825insR		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1824_1825							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGATGCCCAGGCCAGAGCAG	0.495		NaN											NaN	NaN	NaN	NaN	NaN	42	147	---		---	---
PPARG	5468	broad.mit.edu	37	3	12422901	12422902	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr3:12422901_12422902insC	uc003bwx.2	+	3	482_483	c.391_392insC	c.(391-393)TCCfs	p.S131fs	PPARG_uc003bwr.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bws.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwu.2_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwv.2_Frame_Shift_Ins_p.S103fs|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bwt.1_Frame_Shift_Ins_p.S103fs|PPARG_uc003bww.1_Frame_Shift_Ins_p.S131fs	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	131					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGAAGAGCCTTCCAACTCCCTC	0.426		NaN	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						NaN	NaN	NaN	NaN	NaN	15	72	---		---	---
NOP14	8602	broad.mit.edu	37	4	2941321	2941327	+	Frame_Shift_Del	DEL	GGCAGAG	GGCAGAG	-	rs138901812	by1000genomes	TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr4:2941321_2941327delGGCAGAG	uc003ggj.1	-	16	2317_2323	c.2245_2251delCTCTGCC	c.(2245-2253)CTCTGCCGGfs	p.L749fs	C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Frame_Shift_Del_p.L749fs|NOP14_uc003ggl.2_Frame_Shift_Del_p.L749fs	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	749_751					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						GTCAGCGGCCGGCAGAGCTGCTTCTGG	0.589		NaN											NaN	NaN	NaN	NaN	NaN	17	49	---		---	---
HIST1H2BB	3018	broad.mit.edu	37	6	26043564	26043564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:26043564delC	uc003nfu.2	-	1	322	c.322delG	c.(322-324)GCTfs	p.A108fs	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	108					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCATGCTTAGCCAGCTCCCCA	0.552		NaN											NaN	NaN	NaN	NaN	NaN	49	53	---		---	---
RGL2	5863	broad.mit.edu	37	6	33262770	33262771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr6:33262770_33262771insA	uc003odv.2	-	10	1394_1395	c.1261_1262insT	c.(1261-1263)TCTfs	p.S421fs	RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Frame_Shift_Ins_p.S339fs|RGL2_uc011drb.1_Frame_Shift_Ins_p.S339fs	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	421	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						CCGGGAGCCAGACCTCGGGGCC	0.589		NaN											NaN	NaN	NaN	NaN	NaN	8	5	---		---	---
ADCY1	107	broad.mit.edu	37	7	45725689	45725689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr7:45725689delC	uc003tne.3	+	13	2220	c.2202delC	c.(2200-2202)TGCfs	p.C734fs		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	734	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTGCTGCCTGGTGGGCA	0.622		NaN											NaN	NaN	NaN	NaN	NaN	37	56	---		---	---
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chr8:52733063delT	uc003xqx.3	-	6	1263	c.922delA	c.(922-924)ATGfs	p.M308fs	PCMTD1_uc011ldm.1_Frame_Shift_Del_p.M178fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.M308fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.M120fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.M232fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	308						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.284		NaN											NaN	NaN	NaN	NaN	NaN	8	132	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44918557	44918558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:44918557_44918558insG	uc004dge.3	+	12	1415_1416	c.1040_1041insG	c.(1039-1041)TTGfs	p.L347fs	KDM6A_uc010nhk.2_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mkz.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.L347fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.L96fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.L13fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	347	TPR 7.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCTGTACAATTGGACCATGGCC	0.431		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	39	9	---	Valid	---	---
STAG2	10735	broad.mit.edu	37	X	123184129	123184130	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FJ-A3ZE-01A-11D-A23M-08	TCGA-FJ-A3ZE-10A-01D-A23K-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	880d0e3d-c056-464e-af90-2b308666a1e3	dc83b106-af68-430d-b92c-24bb7199925e	g.chrX:123184129_123184130delAA	uc004etz.3	+	10	1326_1327	c.987_988delAA	c.(985-990)TTAAAAfs	p.L329fs	STAG2_uc004eua.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L329fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L329fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L329fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	329_330	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						ACAGTTATTTAAAATATGTTGG	0.401		NaN											NaN	NaN	NaN	NaN	NaN	141	18	---	Valid	---	---
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:6257784_6257785insT	uc001amd.2	-	2	90_91	c.44_45insA	c.(43-45)AAGfs	p.K15fs	RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401		NaN	T	RUNX1	AML|CML								NaN	NaN	NaN	NaN	NaN	38	20	---		---	---
FREM2	341640	broad.mit.edu	37	13	39261881	39261881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:39261881delG	uc001uwv.2	+	1	709	c.400delG	c.(400-402)GGCfs	p.G134fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	134	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGCCCTGGCGAGGTGCG	0.716		NaN											NaN	NaN	NaN	NaN	NaN	9	17	---		---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:38978766_38978768delTCC	uc002hvi.2	-	1	96_98	c.70_72delGGA	c.(70-72)GGAdel	p.G24del	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Head.|Gly-rich.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.409		NaN											NaN	NaN	NaN	NaN	NaN	7	91	---		---	---
LRFN2	57497	broad.mit.edu	37	6	40400554	40400557	+	Frame_Shift_Del	DEL	TCGA	TCGA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:40400554_40400557delTCGA	uc003oph.1	-	2	761_764	c.296_299delTCGA	c.(295-300)CTCGAGfs	p.L99fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	99_100	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGAGGCTCTCGAGGTCCAGAAA	0.603		NaN											NaN	NaN	NaN	NaN	NaN	14	37	---		---	---
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	Splice_Site	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:57512916_57512917insT	uc003pdx.2	+	16	1839	c.1752_splice	c.e16+1			NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0		NaN											NaN	NaN	NaN	NaN	NaN	4	7	---		---	---
FAM126A	84668	broad.mit.edu	37	7	23004031	23004040	+	Splice_Site	DEL	TACAAGGCAA	TACAAGGCAA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:23004031_23004040delTACAAGGCAA	uc003svm.3	-	8	998	c.743_splice	c.e8+1	p.F248_splice	FAM126A_uc003svn.3_Splice_Site_p.F104_splice	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A							cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ATGAGATACTTACAAGGCAAAATAAATCCC	0.3		NaN											NaN	NaN	NaN	NaN	NaN	32	34	---		---	---
GAL3ST4	79690	broad.mit.edu	37	7	99758558	99758560	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:99758558_99758560delTGT	uc003utt.2	-	3	1469_1471	c.452_454delACA	c.(451-456)GACAGC>GGC	p.151_152DS>G	C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_In_Frame_Del_p.151_152DS>G|GAL3ST4_uc010lgq.2_In_Frame_Del_p.89_90DS>G	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	151_152	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAAAGAAGCTGTCAGAAGGCAT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	37	64	---		---	---
SIDT2	51092	broad.mit.edu	37	11	117064644	117064645	+	In_Frame_Ins	INS	-	-	TCT			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:117064644_117064645insTCT	uc001pqh.1	+	24	2328_2329	c.2287_2288insTCT	c.(2287-2289)CTC>CTCTTC	p.767_768insF	SIDT2_uc010rxe.1_In_Frame_Ins_p.767_768insF|SIDT2_uc001pqg.2_In_Frame_Ins_p.788_789insF|SIDT2_uc001pqi.1_In_Frame_Ins_p.764_765insF|SIDT2_uc001pqj.1_In_Frame_Ins_p.79_80insF	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	767_768	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGGCTTCGCGCTCTTCTTCTTC	0.604		NaN											NaN	NaN	NaN	NaN	NaN	20	26	---		---	---
ZC3H18	124245	broad.mit.edu	37	16	88666210	88666211	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:88666210_88666211insGC	uc002fky.2	+	6	1142_1143	c.942_943insGC	c.(940-945)AAAGCAfs	p.K314fs	ZC3H18_uc010voy.1_Frame_Shift_Ins_p.K197fs|ZC3H18_uc010voz.1_Frame_Shift_Ins_p.K338fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	314_315						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTTTAAAAAAAGCAACTATTCG	0.431		NaN											NaN	NaN	NaN	NaN	NaN	38	121	---		---	---
ZDBF2	57683	broad.mit.edu	37	2	207169788	207169789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:207169788_207169789insC	uc002vbp.2	+	5	786_787	c.536_537insC	c.(535-537)CGCfs	p.R179fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	179							nucleic acid binding|zinc ion binding			ovary(3)	3						AACTTGGTACGCCCCCCAGTGA	0.426		NaN											NaN	NaN	NaN	NaN	NaN	18	24	---		---	---
RHBDD1	84236	broad.mit.edu	37	2	227779059	227779059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:227779059delG	uc002voi.2	+	6	969	c.848delG	c.(847-849)TGGfs	p.W283fs	RHBDD1_uc010fxc.2_Frame_Shift_Del_p.W283fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.W114fs	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	283						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GCCAGCCTCTGGGACCGAGGT	0.443		NaN											NaN	NaN	NaN	NaN	NaN	21	24	---		---	---
FBXO38	81545	broad.mit.edu	37	5	147781970	147781974	+	Frame_Shift_Del	DEL	TCATA	TCATA	-			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:147781970_147781974delTCATA	uc003lpf.1	+	5	606_610	c.486_490delTCATA	c.(484-492)GTTCATATTfs	p.V162fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.V162fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.V162fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	162_164						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCCATGTTCATATTTTGGGGAA	0.346		NaN											NaN	NaN	NaN	NaN	NaN	25	67	---		---	---
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:20414278_20414280delCTG	uc003zoe.2	-	5	823_825	c.564_566delCAG	c.(562-567)AGCAGT>AGT	p.188_189SS>S	MLLT3_uc011lne.1_In_Frame_Del_p.156_157SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.185_186SS>S|MLLT3_uc003zof.2_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	188_189	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACTGGTActactgctgctgctgc	0.182		NaN	T	MLL	ALL								NaN	NaN	NaN	NaN	NaN	7	124	---		---	---
TXNIP	10628	broad.mit.edu	37	1	145438899	145438900	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:145438899_145438900insT	uc001enn.3	+	1	438_439	c.97_98insT	c.(97-99)GTGfs	p.V33fs	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	33					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGGGTGATAGTGGAGGTGTGT	0.515		NaN											NaN	NaN	NaN	NaN	NaN	7	31	---	Valid	---	---
RAB3IL1	5866	broad.mit.edu	37	11	61675683	61675683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:61675683delG	uc001nso.2	-	2	265	c.107delC	c.(106-108)CCAfs	p.P36fs	RAB3IL1_uc001nsp.2_Frame_Shift_Del_p.P83fs	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	36							protein binding			skin(2)|central_nervous_system(1)	3						CAGGGCTCCTGGGGACTCCCT	0.721		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
PAN2	9924	broad.mit.edu	37	12	56720730	56720730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:56720730delG	uc001skx.2	-	7	1306	c.933delC	c.(931-933)TTCfs	p.F311fs	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Frame_Shift_Del_p.F311fs|PAN2_uc001sky.2_Frame_Shift_Del_p.F311fs	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	311					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TGGGTTCACAGAATTGGCACT	0.512		NaN											NaN	NaN	NaN	NaN	NaN	17	44	---		---	---
GTF3A	2971	broad.mit.edu	37	13	28006890	28006890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:28006890delA	uc001ure.2	+	5	705	c.511delA	c.(511-513)AAAfs	p.K171fs	GTF3A_uc001urf.2_Intron|GTF3A_uc001urg.2_RNA	NM_002097	NP_002088	Q92664	TF3A_HUMAN	transcription factor IIIA	171	C2H2-type 5.				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		AGGATGTGGGAAACACTTTGC	0.532		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
B3GNT2	10678	broad.mit.edu	37	2	62449660	62449673	+	Frame_Shift_Del	DEL	TCACGTCGGTGGTT	TCACGTCGGTGGTT	-	rs72893877	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:62449660_62449673delTCACGTCGGTGGTT	uc002sbs.2	+	2	543_556	c.305_318delTCACGTCGGTGGTT	c.(304-318)GTCACGTCGGTGGTTfs	p.V102fs		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	102_106	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GACCTGAGGGTCACGTCGGTGGTTACGGGTTTTA	0.5		NaN											NaN	NaN	NaN	NaN	NaN	21	332	---		---	---
CENPC1	1060	broad.mit.edu	37	4	68358626	68358627	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:68358626_68358627insT	uc003hdd.1	-	15	2562_2563	c.2379_2380insA	c.(2377-2382)AAATCTfs	p.K793fs	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihl.2_5'UTR	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	793_794	Nuclear localization signal (Potential).				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TTCTTATTAGATTTTTTGTTGA	0.297		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
C5orf45	51149	broad.mit.edu	37	5	179264671	179264700	+	In_Frame_Del	DEL	TGAAGAGACCTTGGCTGCTCACTGTCCACA	TGAAGAGACCTTGGCTGCTCACTGTCCACA	-	rs61742526	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA	uc003mla.2	-	7	767_796	c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA	c.(721-753)CATGTGGACAGTGAGCAGCCAAGGTCTCTTCAG>CAG	p.HVDSEQPRSL241del	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_In_Frame_Del_p.HVDSEQPRSL186del|C5orf45_uc003mlb.2_In_Frame_Del_p.HVDSEQPRSL107del	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	241_250											0						GGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTT	0.587		NaN											NaN	NaN	NaN	NaN	NaN	7	28	---		---	---
SPTAN1	6709	broad.mit.edu	37	9	131367428	131367429	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131367428_131367429delGA	uc004bvl.3	+	30	3948_3949	c.3835_3836delGA	c.(3835-3837)GAGfs	p.E1279fs	SPTAN1_uc011mbh.1_Frame_Shift_Del_p.E1291fs|SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1279fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1259fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1279	Spectrin 14.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAGGGCTTCGAGAGGGACCTT	0.5		NaN											NaN	NaN	NaN	NaN	NaN	11	22	---		---	---
SYNC	81493	broad.mit.edu	37	1	33149943	33149943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149943delC	uc001bvt.2	-	3	1374	c.1274delG	c.(1273-1275)AGAfs	p.R425fs	SYNC_uc010ohl.1_Frame_Shift_Del_p.R425fs|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament 1 isoform 1	425	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			ovary(1)	1						CACCCCATTTCTTAACTGCCT	0.443		NaN											NaN	NaN	NaN	NaN	NaN	33	112	---		---	---
MLL2	8085	broad.mit.edu	37	12	49445896	49445896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:49445896delC	uc001rta.3	-	10	1570	c.1570delG	c.(1570-1572)GAAfs	p.E524fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	524	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|6.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGTGACTCTTCCGGTGGAGAC	0.597		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	17	55	---	Valid	---	---
RBL2	5934	broad.mit.edu	37	16	53488655	53488655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:53488655delG	uc002ehi.3	+	8	1198	c.1080delG	c.(1078-1080)GAGfs	p.E360fs	RBL2_uc010vgv.1_Frame_Shift_Del_p.E286fs|RBL2_uc002ehj.2_Frame_Shift_Del_p.E70fs|RBL2_uc010vgw.1_Frame_Shift_Del_p.E144fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	360					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGCTGAGGAGGAAATTGGGA	0.428		NaN											NaN	NaN	NaN	NaN	NaN	29	31	---		---	---
SMYD4	114826	broad.mit.edu	37	17	1704320	1704321	+	Splice_Site	INS	-	-	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1704320_1704321insC	uc002ftm.3	-	5	538	c.370_splice	c.e5-1	p.T124_splice	SMYD4_uc002ftn.1_Splice_Site	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4								zinc ion binding			skin(3)|kidney(2)	5						AAGACACGTCTGAAAACAGAAA	0.381		NaN											NaN	NaN	NaN	NaN	NaN	36	67	---		---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340475	39340477	+	Splice_Site	DEL	TGC	TGC	-	rs145519739		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:39340475_39340477delTGC	uc002hwe.3	-	2	613	c.572_splice	c.e2+1			NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1							keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTCTGAATGCTGCTGGGAAG	0.379		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
NOP56	10528	broad.mit.edu	37	20	2635118	2635118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635118delG	uc002wgh.2	+	4	320	c.267delG	c.(265-267)AAGfs	p.K89fs	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	89					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						CCAAAAAGAAGAAAGTACTCT	0.537		NaN											NaN	NaN	NaN	NaN	NaN	45	72	---		---	---
HERC5	51191	broad.mit.edu	37	4	89415386	89415386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:89415386delT	uc003hrt.2	+	18	2501	c.2348delT	c.(2347-2349)GTTfs	p.V783fs	HERC5_uc011cdm.1_Frame_Shift_Del_p.V421fs	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	783	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AATTGCAATGTTGCCAACCTT	0.368		NaN											NaN	NaN	NaN	NaN	NaN	12	37	---		---	---
FOXQ1	94234	broad.mit.edu	37	6	1313255	1313256	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1313255_1313256insGC	uc003mtl.3	+	1	581_582	c.316_317insGC	c.(316-318)GGCfs	p.G106fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	106					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		cgcggggagcggcgagggtgCA	0.322		NaN											NaN	NaN	NaN	NaN	NaN	7	11	---	Inconclusive	---	---
HOXA3	3200	broad.mit.edu	37	7	27148001	27148005	+	Frame_Shift_Del	DEL	ACGGG	ACGGG	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:27148001_27148005delACGGG	uc011jzl.1	-	3	1061_1065	c.861_865delCCCGT	c.(859-867)GTCCCGTATfs	p.V287fs	HOXA3_uc011jzk.1_Frame_Shift_Del_p.V129fs|HOXA3_uc003syk.2_Frame_Shift_Del_p.V287fs	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	287_289					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TGGGGCTCATACGGGACGCTGTTGA	0.693		NaN											NaN	NaN	NaN	NaN	NaN	27	57	---		---	---
SULF1	23213	broad.mit.edu	37	8	70536366	70536366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:70536366delG	uc010lza.1	+	15	2501	c.1784delG	c.(1783-1785)AGGfs	p.R595fs	SULF1_uc003xyd.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xye.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	595					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGTGGCAACAGGGGCAGGATG	0.512		NaN											NaN	NaN	NaN	NaN	NaN	9	20	---		---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200709041	200709062	+	Frame_Shift_Del	DEL	GGGCCAAAATCGCCTGCAATCT	GGGCCAAAATCGCCTGCAATCT	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr1:200709041_200709062delGGGCCAAAATCGCCTGCAATCT	uc001gvl.2	+	1	356_377	c.86_107delGGGCCAAAATCGCCTGCAATCT	c.(85-108)AGGGCCAAAATCGCCTGCAATCTGfs	p.R29fs	CAMSAP1L1_uc001gvk.2_Frame_Shift_Del_p.R29fs|CAMSAP1L1_uc001gvm.2_Frame_Shift_Del_p.R29fs	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	29_36						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTG	0.55		NaN											NaN	NaN	NaN	NaN	NaN	8	71	---		---	---
ANKRD36	375248	broad.mit.edu	37	2	97875579	97875580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr2:97875579_97875580insA	uc010yva.1	+	56	3581_3582	c.3337_3338insA	c.(3337-3339)GAAfs	p.E1113fs		NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1113											0						TATAGCCAGAGAAAAAAAGGAT	0.317		NaN											NaN	NaN	NaN	NaN	NaN	4	6	---		---	---
SAMHD1	25939	broad.mit.edu	37	20	35533895	35533896	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr20:35533895_35533896insA	uc002xgh.1	-	12	1411_1412	c.1281_1282insT	c.(1279-1284)TTTCTGfs	p.F427fs	SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	427_428					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				AAAATCTCCAGAAAAATGTTAT	0.292		NaN											NaN	NaN	NaN	NaN	NaN	41	63	---		---	---
CCNL1	57018	broad.mit.edu	37	3	156877198	156877198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:156877198delA	uc003fbf.2	-	2	973	c.374delT	c.(373-375)TTCfs	p.F125fs	CCNL1_uc003fbd.1_Frame_Shift_Del_p.F125fs|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_5'UTR	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	125	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCTTACCTCGAAACTGTGTTT	0.517		NaN											NaN	NaN	NaN	NaN	NaN	17	50	---		---	---
ZDHHC19	131540	broad.mit.edu	37	3	195925257	195925257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr3:195925257delA	uc003fwc.2	-	7	953	c.839delT	c.(838-840)CTGfs	p.L280fs	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	280						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TGGAGGGTGCAGATTCGGCAT	0.652		NaN											NaN	NaN	NaN	NaN	NaN	12	58	---		---	---
ATP10D	57205	broad.mit.edu	37	4	47538490	47538491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr4:47538490_47538491insT	uc003gxk.1	+	8	1216_1217	c.1052_1053insT	c.(1051-1053)CATfs	p.H351fs	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Frame_Shift_Ins_p.H351fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	351	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GAAAAGATGCATTTTTTCAATG	0.342		NaN											NaN	NaN	NaN	NaN	NaN	112	80	---		---	---
EYA4	2070	broad.mit.edu	37	6	133783839	133783839	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr6:133783839delA	uc003qec.3	+	9	1119	c.661delA	c.(661-663)AGTfs	p.S221fs	EYA4_uc011ecq.1_Frame_Shift_Del_p.S167fs|EYA4_uc011ecr.1_Frame_Shift_Del_p.S167fs|EYA4_uc003qed.3_Frame_Shift_Del_p.S221fs|EYA4_uc003qee.3_Frame_Shift_Del_p.S198fs|EYA4_uc011ecs.1_Frame_Shift_Del_p.S221fs|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	221					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGCTGCCTCAGTTACAGCCC	0.473		NaN											NaN	NaN	NaN	NaN	NaN	23	37	---		---	---
GLIS3	169792	broad.mit.edu	37	9	4117765	4117766	+	Splice_Site	INS	-	-	A			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chr9:4117765_4117766insA	uc003zhw.1	-	3	1439	c.1245_splice	c.e3+1	p.T415_splice	GLIS3_uc003zhx.1_Splice_Site_p.T570_splice|GLIS3_uc003zhy.1_Intron|GLIS3_uc003zhz.1_Intron	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCGGAAACTCACCGTACACTT	0.559		NaN											NaN	NaN	NaN	NaN	NaN	70	76	---		---	---
GLUD2	2747	broad.mit.edu	37	X	120182413	120182413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EJ-01A-11D-A17V-08	TCGA-G2-A2EJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82f98ff9-7161-45c3-8107-033b47e25f21	faac4243-dcb7-4fe7-974f-7c1c97c101b3	g.chrX:120182413delT	uc004eto.2	+	1	952	c.875delT	c.(874-876)ATTfs	p.I292fs		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	292					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TACATGAGCATTTTAGGAATG	0.438		NaN											NaN	NaN	NaN	NaN	NaN	36	108	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27100151	27100152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr1:27100151_27100152insG	uc001bmv.1	+	16	4320_4321	c.3947_3948insG	c.(3946-3948)TCGfs	p.S1316fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S1315fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S1316fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S933fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.S162fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1318fs*163(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTATT	0.51		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	28	79	---	Valid	---	---
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr12:70091534delA	uc001svg.2	-	2	272	c.45delT	c.(43-45)TTTfs	p.F15fs	BEST3_uc001svd.1_Frame_Shift_Del_p.F15fs|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	15	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353		NaN											NaN	NaN	NaN	NaN	NaN	9	2947	---		---	---
NAPEPLD	222236	broad.mit.edu	37	7	102760122	102760123	+	Frame_Shift_Ins	INS	-	-	A	rs147416689	by1000genomes	TCGA-G2-A2EK-01A-22D-A18F-08	TCGA-G2-A2EK-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb73bb35-af99-47b8-8bbb-33b5374e5c74	5f625d04-86a8-48d3-8f6c-4000194a279e	g.chr7:102760122_102760123insA	uc003vbc.2	-	3	1170_1171	c.842_843insT	c.(841-843)TTCfs	p.F281fs	NAPEPLD_uc003vbd.2_Frame_Shift_Ins_p.F281fs|NAPEPLD_uc011klj.1_Frame_Shift_Ins_p.F354fs|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779).	phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						TATCTCCTGCGAAAAAAAATCG	0.46		NaN											NaN	NaN	NaN	NaN	NaN	17	56	---		---	---
EIF4G2	1982	broad.mit.edu	37	11	10823639	10823640	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10823639_10823640delTG	uc001mjc.2	-	13	1672_1673	c.1255_1256delCA	c.(1255-1257)CAAfs	p.Q419fs	EIF4G2_uc001mjb.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc009ygf.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc001mjd.2_Frame_Shift_Del_p.Q419fs|EIF4G2_uc001mjf.1_Frame_Shift_Del_p.Q213fs|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	419					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTGCGATTGTGTGGGAGGC	0.431		NaN											NaN	NaN	NaN	NaN	NaN	15	109	---		---	---
ARID2	196528	broad.mit.edu	37	12	46240637	46240638	+	Splice_Site	INS	-	-	GCTT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			-	GCTT	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:46240637_46240638insGCTT	uc001ros.1	+	12	1499	c.1499_splice	c.e12-1	p.A500_splice	ARID2_uc001ror.2_Splice_Site_p.A500_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.A127_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTTCTTTAGCTTCCAGAGC	0.351		NaN											NaN	NaN	NaN	NaN	NaN	8	70	---	Valid	---	---
TUSC5	286753	broad.mit.edu	37	17	1183661	1183661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:1183661delC	uc002fsi.1	+	1	705	c.366delC	c.(364-366)ATCfs	p.I122fs		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	122	Helical; (Potential).				response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCAACCTCATCCCCCTCATCA	0.617		NaN											NaN	NaN	NaN	NaN	NaN	56	112	---		---	---
QRICH2	84074	broad.mit.edu	37	17	74283954	74283955	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74283954_74283955delCC	uc002jrd.1	-	6	3504_3505	c.3324_3325delGG	c.(3322-3327)CTGGAAfs	p.L1108fs	QRICH2_uc010wsz.1_Frame_Shift_Del_p.L1034fs|QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1108_1109	Potential.						protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CCTTCCCCTTCCAGGATCCTCT	0.559		NaN											NaN	NaN	NaN	NaN	NaN	34	96	---		---	---
SLC14A1	6563	broad.mit.edu	37	18	43310353	43310353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43310353delC	uc010xcn.1	+	4	387	c.68delC	c.(67-69)TCGfs	p.S23fs	SLC14A1_uc010dnk.2_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbf.3_Frame_Shift_Del_p.S23fs|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbk.3_Frame_Shift_Del_p.S23fs	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	23						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						AACCAGGTTTCGCCATGTCAA	0.507		NaN											NaN	NaN	NaN	NaN	NaN	35	77	---		---	---
OBSL1	23363	broad.mit.edu	37	2	220435169	220435170	+	Frame_Shift_Ins	INS	-	-	TGCT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:220435169_220435170insTGCT	uc010fwk.2	-	1	842_843	c.785_786insAGCA	c.(784-786)CACfs	p.H262fs	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Frame_Shift_Ins_p.H262fs|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	262	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAACTTGGCGTGCTTGCCCTC	0.723		NaN											NaN	NaN	NaN	NaN	NaN	19	89	---		---	---
FAT1	2195	broad.mit.edu	37	4	187510105	187510115	+	Frame_Shift_Del	DEL	CAGGCATGTCT	CAGGCATGTCT	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187510105_187510115delCAGGCATGTCT	uc003izf.2	-	27	13586_13596	c.13398_13408delAGACATGCCTG	c.(13396-13410)AGAGACATGCCTGCCfs	p.R4466fs	FAT1_uc010isn.2_Frame_Shift_Del_p.R113fs|FAT1_uc003ize.2_Frame_Shift_Del_p.R357fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4466_4470	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTACCCGCGGCAGGCATGTCTCTAGGAGGGT	0.502		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	16	295	---		---	---
SLC12A2	6558	broad.mit.edu	37	5	127514329	127514330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:127514329_127514330insA	uc003kus.2	+	22	3212_3213	c.3048_3049insA	c.(3046-3051)CAGAAAfs	p.Q1016fs	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Frame_Shift_Ins_p.Q1000fs	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	1016_1017	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGTTTCAGAAAAAACAAGG	0.307		NaN											NaN	NaN	NaN	NaN	NaN	8	77	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:44942739delC	uc004dge.3	+	23	3694	c.3319delC	c.(3319-3321)CCTfs	p.P1107fs	KDM6A_uc011mkz.1_Frame_Shift_Del_p.P1159fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.P1062fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.P1114fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.P811fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.P746fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1107	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GACTAAACTTCCTGCTTTTGT	0.403		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	29	10	---	Valid	---	---
C1orf9	51430	broad.mit.edu	37	1	172546905	172546905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:172546905delT	uc001giq.3	+	13	1602	c.1286delT	c.(1285-1287)GTTfs	p.V429fs	C1orf9_uc010pmm.1_Frame_Shift_Del_p.V429fs|C1orf9_uc009wwd.2_Frame_Shift_Del_p.V385fs|C1orf9_uc010pmn.1_Frame_Shift_Del_p.V392fs|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	429	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ATTCTTTAGGTTGAGTTGCTA	0.289		NaN											NaN	NaN	NaN	NaN	NaN	24	79	---		---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:30316501_30316503delCTG	uc001iux.2	-	2	2633_2635	c.2574_2576delCAG	c.(2572-2577)AGCAGT>AGT	p.858_859SS>S	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	858_859	Ser-rich.									ovary(4)	4						ACTCTCCTCActgctgctgctgc	0.463		NaN											NaN	NaN	NaN	NaN	NaN	11	193	---		---	---
ALOX5	240	broad.mit.edu	37	10	45920479	45920480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:45920479_45920480insG	uc001jce.2	+	6	832_833	c.733_734insG	c.(733-735)TTGfs	p.L245fs	ALOX5_uc009xmt.2_Frame_Shift_Ins_p.L245fs|ALOX5_uc010qfg.1_Frame_Shift_Ins_p.L245fs	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	245	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CAACCCTGTGTTGATCCGGCGC	0.604		NaN											NaN	NaN	NaN	NaN	NaN	55	142	---		---	---
SLK	9748	broad.mit.edu	37	10	105727602	105727619	+	In_Frame_Del	DEL	TTGGGAGATTATAGGAGA	TTGGGAGATTATAGGAGA	-	rs149480041		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA	uc001kxo.1	+	1	133_150	c.99_116delTTGGGAGATTATAGGAGA	c.(97-117)TTTTGGGAGATTATAGGAGAA>TTA	p.33_39FWEIIGE>L	SLK_uc001kxp.1_In_Frame_Del_p.33_39FWEIIGE>L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	33_39	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCGAAGACTTTTGGGAGATTATAGGAGAACTGGGCGAC	0.5		NaN											NaN	NaN	NaN	NaN	NaN	11	99	---		---	---
AMBRA1	55626	broad.mit.edu	37	11	46563668	46563677	+	Frame_Shift_Del	DEL	CTCCAGCCTG	CTCCAGCCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46563668_46563677delCTCCAGCCTG	uc010rgu.1	-	7	2250_2259	c.1890_1899delCAGGCTGGAG	c.(1888-1899)AGCAGGCTGGAGfs	p.S630fs	AMBRA1_uc010rgt.1_Frame_Shift_Del_p.S196fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.S630fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncv.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.S630fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	630_633	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGCTCAACTCCAGCCTGCTGGAGCTGG	0.595		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:71275774_71275776delCCT	uc001xmm.2	-	1	113_115	c.113_115delAGG	c.(112-117)GAGGCG>GCG	p.E38del	MAP3K9_uc001xml.2_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.68		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
PSEN1	5663	broad.mit.edu	37	14	73659343	73659369	+	Splice_Site	DEL	TTTTTTCAGGGAAGTGTTTAAAACCTA	TTTTTTCAGGGAAGTGTTTAAAACCTA	-	rs63750311		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA	uc001xnr.2	+	7	833	c.549_splice	c.e7-1	p.G183_splice	PSEN1_uc001xnv.2_Splice_Site_p.G179_splice|PSEN1_uc010ark.2_Splice_Site_p.G179_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467						amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTGTGTAATTTTTTTTCAGGGAAGTGTTTAAAACCTATAACGTTGCT	0.308		NaN											NaN	NaN	NaN	NaN	NaN	14	100	---		---	---
ENTPD5	957	broad.mit.edu	37	14	74438590	74438590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:74438590delA	uc010tuo.1	-	14	1360	c.1049delT	c.(1048-1050)TTAfs	p.L350fs	ENTPD5_uc001xpi.2_Frame_Shift_Del_p.L350fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	350					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTCAACTTTTAAAATACCCCC	0.378		NaN											NaN	NaN	NaN	NaN	NaN	64	215	---		---	---
THAP10	56906	broad.mit.edu	37	15	71174825	71174843	+	Frame_Shift_Del	DEL	TATAAGACAAATCACTCTG	TATAAGACAAATCACTCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:71174825_71174843delTATAAGACAAATCACTCTG	uc002asv.2	-	3	866_884	c.724_742delCAGAGTGATTTGTCTTATA	c.(724-744)CAGAGTGATTTGTCTTATATGfs	p.Q242fs	LRRC49_uc002asu.2_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242_248							DNA binding|metal ion binding			ovary(1)|skin(1)	2						TGTACAGCCATATAAGACAAATCACTCTGTTCACTCTTG	0.356		NaN											NaN	NaN	NaN	NaN	NaN	7	190	---		---	---
ATAD5	79915	broad.mit.edu	37	17	29220513	29220513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:29220513delG	uc002hfs.1	+	21	4988	c.4642delG	c.(4642-4644)GCTfs	p.A1548fs		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1548					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTGTCTTGCTAGGAAACA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	32	91	---		---	---
TOP2A	7153	broad.mit.edu	37	17	38564250	38564251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38564250_38564251insT	uc002huq.2	-	12	1594_1595	c.1468_1469insA	c.(1468-1470)ATAfs	p.I490fs	TOP2A_uc002hur.1_Frame_Shift_Ins_p.I131fs	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	490					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACATTGAGTATTTTTCCTCTA	0.371		NaN											NaN	NaN	NaN	NaN	NaN	54	216	---		---	---
MBD1	4152	broad.mit.edu	37	18	47800609	47800626	+	In_Frame_Del	DEL	TGCCCCCGAATTTGGGCT	TGCCCCCGAATTTGGGCT	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT	uc010dow.1	-	11	1513_1530	c.1076_1093delAGCCCAAATTCGGGGGCA	c.(1075-1095)AAGCCCAAATTCGGGGGCAGC>AGC	p.KPKFGG359del	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.KPKFGG309del|MBD1_uc010xdi.1_In_Frame_Del_p.KPKFGG410del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lei.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.KPKFGG310del|MBD1_uc002lel.3_In_Frame_Del_p.KPKFGG336del|MBD1_uc002lem.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.KPKFGG384del|MBD1_uc010dox.1_In_Frame_Del_p.KPKFGG336del|MBD1_uc002leo.2_In_Frame_Del_p.KPKFGG359del	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	359_364	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTCTGGTTGCTGCCCCCGAATTTGGGCTTGTCGCAGCA	0.651		NaN											NaN	NaN	NaN	NaN	NaN	24	137	---		---	---
SLC20A1	6574	broad.mit.edu	37	2	113404397	113404433	+	Translation_Start_Site	DEL	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	uc002tib.2	+	2					uc010fkq.1_5'Flank	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate						phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						ACAACCACTACTCCAGAGAATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGC	0.409		NaN											NaN	NaN	NaN	NaN	NaN	9	53	---		---	---
KIF3B	9371	broad.mit.edu	37	20	30898454	30898483	+	In_Frame_Del	DEL	TATCGGGACTCAAAGCTTACCAGGCTCCTC	TATCGGGACTCAAAGCTTACCAGGCTCCTC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	uc002wxq.2	+	2	1041_1070	c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	c.(874-903)TATCGGGACTCAAAGCTTACCAGGCTCCTCdel	p.YRDSKLTRLL292del	KIF3B_uc010ztv.1_In_Frame_Del_p.YRDSKLTRLL292del|KIF3B_uc010ztw.1_In_Frame_Del_p.YRDSKLTRLL292del	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	292_301	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCC	0.509		NaN											NaN	NaN	NaN	NaN	NaN	8	62	---		---	---
ITCH	83737	broad.mit.edu	37	20	33057885	33057897	+	Frame_Shift_Del	DEL	ACTTCAAAGCAAA	ACTTCAAAGCAAA	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:33057885_33057897delACTTCAAAGCAAA	uc010geu.1	+	16	1772_1784	c.1580_1592delACTTCAAAGCAAA	c.(1579-1593)GACTTCAAAGCAAAGfs	p.D527fs	ITCH_uc002xak.2_Frame_Shift_Del_p.D486fs|ITCH_uc010zuj.1_Frame_Shift_Del_p.D376fs	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	527_531					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TATGTTCGGGACTTCAAAGCAAAGGTTCAGTAT	0.399		NaN											NaN	NaN	NaN	NaN	NaN	49	308	---		---	---
C20orf195	79025	broad.mit.edu	37	20	62187700	62187708	+	In_Frame_Del	DEL	GTTCGTCAC	GTTCGTCAC	-	rs150942473	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62187700_62187708delGTTCGTCAC	uc002yfj.2	+	2	776_784	c.684_692delGTTCGTCAC	c.(682-693)TGGTTCGTCACC>TGC	p.228_231WFVT>C	C20orf195_uc002yfk.2_In_Frame_Del_p.228_231WFVT>C	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	228_231											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTGCGCTGGTTCGTCACCATCCAGCCA	0.641		NaN											NaN	NaN	NaN	NaN	NaN	53	200	---		---	---
TGFBR2	7048	broad.mit.edu	37	3	30713456	30713457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:30713456_30713457insC	uc003ceo.2	+	4	1163_1164	c.781_782insC	c.(781-783)GCCfs	p.A261fs	TGFBR2_uc003cen.2_Frame_Shift_Ins_p.A286fs	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	261	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGTCTATAAGGCCAAGCTGAAG	0.515		NaN											NaN	NaN	NaN	NaN	NaN	50	62	---		---	---
DNAH1	25981	broad.mit.edu	37	3	52433606	52433607	+	Frame_Shift_Ins	INS	-	-	GGTGC			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:52433606_52433607insGGTGC	uc011bef.1	+	77	12748_12749	c.12487_12488insGGTGC	c.(12487-12489)GGGfs	p.G4163fs	DNAH1_uc003ddv.2_Intron	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4228					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCCAAGTAGGGTGCTATATC	0.525		NaN											NaN	NaN	NaN	NaN	NaN	7	39	---		---	---
ZDHHC19	131540	broad.mit.edu	37	3	195935333	195935355	+	Frame_Shift_Del	DEL	GCCCGAGTAGAGGCACAGGGACA	GCCCGAGTAGAGGCACAGGGACA	-	rs75505676	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	uc003fwc.2	-	4	599_621	c.485_507delTGTCCCTGTGCCTCTACTCGGGC	c.(484-507)CTGTCCCTGTGCCTCTACTCGGGCfs	p.L162fs	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	162_169	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCAGCATGGCGCCCGAGTAGAGGCACAGGGACAGGACAAGCAG	0.583		NaN											NaN	NaN	NaN	NaN	NaN	20	40	---		---	---
C4orf14	84273	broad.mit.edu	37	4	57842717	57842743	+	In_Frame_Del	DEL	GCCCACTAAGTAGACGTCCCCACGGTA	GCCCACTAAGTAGACGTCCCCACGGTA	-	rs145154138		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	uc003hck.2	-	1	1084_1110	c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	c.(1009-1035)TACCGTGGGGACGTCTACTTAGTGGGCdel	p.YRGDVYLVG337del	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	337_345							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CGTTGGTGGCGCCCACTAAGTAGACGTCCCCACGGTAGCGCCAGGAG	0.612		NaN											NaN	NaN	NaN	NaN	NaN	9	87	---		---	---
FBXW7	55294	broad.mit.edu	37	4	153245449	153245450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153245449_153245450insG	uc003ims.2	-	11	1890_1891	c.1741_1742insC	c.(1741-1743)CAGfs	p.Q581fs	FBXW7_uc011cii.1_Frame_Shift_Ins_p.Q581fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.Q581fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.Q405fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.Q501fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.Q463fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	581	WD 6.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.G579_Q581>E(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTTAACGACTGGTGCCCTGTT	0.416		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								NaN	NaN	NaN	NaN	NaN	12	56	---	Valid	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:24492973delA	uc003jgr.1	-	10	1909	c.1577delT	c.(1576-1578)TTCfs	p.F526fs	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	526	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313		NaN								HNSCC(23;0.051)			NaN	NaN	NaN	NaN	NaN	10	399	---		---	---
PTTG1	9232	broad.mit.edu	37	5	159849713	159849715	+	Splice_Site	DEL	CAG	CAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:159849713_159849715delCAG	uc003lyj.2	+	3	137	c.92_splice	c.e3-1	p.S31_splice	PTTG1_uc003lyk.2_Splice_Site_p.S31_splice	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACTTTTTCTTCAGCAATCAAAGC	0.424		NaN											NaN	NaN	NaN	NaN	NaN	20	94	---		---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.2	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5							integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.66		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
TLR4	7099	broad.mit.edu	37	9	120470999	120471017	+	Splice_Site	DEL	TTTATCCAGGTAATGAATC	TTTATCCAGGTAATGAATC	-	rs148067660	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC	uc004bjz.2	+	2	551	c.260_splice	c.e2+1	p.R87_splice	TLR4_uc004bka.2_Splice_Site_p.R47_splice|TLR4_uc004bkb.2_Intron	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor						activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AGGTGCTGGATTTATCCAGGTAATGAATCCACTTTTACA	0.438		NaN											NaN	NaN	NaN	NaN	NaN	43	132	---		---	---
AMMECR1	9949	broad.mit.edu	37	X	109459809	109459823	+	In_Frame_Del	DEL	CCGTGGCAGCTCATC	CCGTGGCAGCTCATC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:109459809_109459823delCCGTGGCAGCTCATC	uc004eoo.2	-	3	703_717	c.622_636delGATGAGCTGCCACGG	c.(622-636)GATGAGCTGCCACGGdel	p.DELPR208del	AMMECR1_uc004eop.2_In_Frame_Del_p.DELPR171del|AMMECR1_uc004eoq.2_In_Frame_Del_p.DELPR85del	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	208_212	AMMECR1.										0						AGCAGAAAAGCCGTGGCAGCTCATCCCTTGTCATT	0.377		NaN											NaN	NaN	NaN	NaN	NaN	23	61	---		---	---
MLL2	8085	broad.mit.edu	37	12	49420342	49420343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08			-	GC	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:49420342_49420343insGC	uc001rta.3	-	48	15406_15407	c.15406_15407insGC	c.(15406-15408)CATfs	p.H5136fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5136	RING-type 4; degenerate.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTGATCTTATGCATTGGACAC	0.52		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	53	76	---	Valid	---	---
KRT84	3890	broad.mit.edu	37	12	52771821	52771822	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr12:52771821_52771822insTA	uc001sah.1	-	9	1847_1848	c.1799_1800insTA	c.(1798-1800)TACfs	p.Y600fs		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	600	Tail.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCTCTCAGTACTTGGTCCG	0.688		NaN											NaN	NaN	NaN	NaN	NaN	4	7	---		---	---
HDC	3067	broad.mit.edu	37	15	50557790	50557791	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr15:50557790_50557791delCT	uc001zxz.2	-	1	136_137	c.30_31delAG	c.(28-33)AGAGGGfs	p.R10fs	HDC_uc010uff.1_Frame_Shift_Del_p.R10fs|HDC_uc010bet.1_Frame_Shift_Del_p.R10fs|HDC_uc010beu.1_Frame_Shift_Del_p.R10fs	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	10_11					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTTGCTCACCTCTCTCTCTGT	0.599		NaN											NaN	NaN	NaN	NaN	NaN	8	80	---		---	---
ZNF598	90850	broad.mit.edu	37	16	2049881	2049883	+	In_Frame_Del	DEL	CGT	CGT	-	rs141374045	by1000genomes	TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr16:2049881_2049883delCGT	uc002cof.1	-	11	1682_1684	c.1667_1669delACG	c.(1666-1671)GACGGC>GGC	p.D556del	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding			lung(1)|breast(1)	2						GCCGGGCCGCCGTCCTCCTCCTC	0.7		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
GRIN2C	2905	broad.mit.edu	37	17	72839417	72839418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr17:72839417_72839418insG	uc002jlt.1	-	13	3014_3015	c.2858_2859insC	c.(2857-2859)CCAfs	p.P953fs	GRIN2C_uc010wrh.1_RNA	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	953	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGCTCGGCTCTGGGGGCGGGTC	0.663		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:44684936delT	uc003tln.2	+	3	342	c.233delT	c.(232-234)ATTfs	p.I78fs	OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577		NaN											NaN	NaN	NaN	NaN	NaN	7	246	---		---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr7:155531073_155531074delCA	uc010lqk.1	+	11	2081_2082	c.1713_1714delCA	c.(1711-1716)CCCACAfs	p.P571fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571_572	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53		NaN											NaN	NaN	NaN	NaN	NaN	7	113	---		---	---
PCM1	5108	broad.mit.edu	37	8	17868136	17868137	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-G2-A3IB-01A-11D-A20D-08	TCGA-G2-A3IB-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1325348c-64b8-4be6-a078-8fac1b3bb44f	bbfeacc2-2b94-4c15-aa40-aa9c17508834	g.chr8:17868136_17868137insTC	uc003wyi.3	+	32	5601_5602	c.5179_5180insTC	c.(5179-5181)GATfs	p.D1727fs	PCM1_uc011kyh.1_Frame_Shift_Ins_p.D1719fs|PCM1_uc003wyj.3_Frame_Shift_Ins_p.D1673fs|PCM1_uc011kyi.1_Frame_Shift_Ins_p.D526fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.D483fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.D409fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.D343fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1727	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		GATTCTTGAAGATCATGGCTCA	0.218		NaN	T	RET|JAK2	papillary thyroid|CML|MPD								NaN	NaN	NaN	NaN	NaN	12	15	---		---	---
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:152083818_152083820delCGG	uc001ezp.2	-	2	1873_1875	c.1873_1875delCCG	c.(1873-1875)CCGdel	p.P625del	TCHH_uc009wne.1_In_Frame_Del_p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.68		NaN											NaN	NaN	NaN	NaN	NaN	8	184	---		---	---
DAP3	7818	broad.mit.edu	37	1	155698864	155698867	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:155698864_155698867delAGAG	uc001flq.2	+	8	804_807	c.635_638delAGAG	c.(634-639)AAGAGAfs	p.K212fs	DAP3_uc001flr.2_Frame_Shift_Del_p.K212fs|DAP3_uc001fls.2_Frame_Shift_Del_p.K212fs|DAP3_uc010pgl.1_Frame_Shift_Del_p.K171fs|DAP3_uc001flt.2_Frame_Shift_Del_p.K178fs|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Frame_Shift_Del_p.K178fs	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	212_213					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTCTGGAATAAGAGAGAAAGCACT	0.397		NaN											NaN	NaN	NaN	NaN	NaN	9	61	---		---	---
LTB4R2	56413	broad.mit.edu	37	14	24780721	24780722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:24780721_24780722insC	uc001woq.1	+	1	2561_2562	c.944_945insC	c.(943-945)AACfs	p.N315fs	CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc010alo.2_Frame_Shift_Ins_p.N284fs|LTB4R2_uc001wor.2_Frame_Shift_Ins_p.N284fs|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	315	Helical; Name=7; (Potential).				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane					0				GBM - Glioblastoma multiforme(265;0.018)		TCTAGCGTCAACCCGGTGCTCT	0.698		NaN											NaN	NaN	NaN	NaN	NaN	21	54	---		---	---
NPTN	27020	broad.mit.edu	37	15	73866075	73866080	+	In_Frame_Del	DEL	AGTGGC	AGTGGC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:73866075_73866080delAGTGGC	uc002avs.2	-	5	960_965	c.763_768delGCCACT	c.(763-768)GCCACTdel	p.AT255del	NPTN_uc010bjc.2_In_Frame_Del_p.AT255del|NPTN_uc002avt.2_In_Frame_Del_p.AT139del|NPTN_uc002avr.2_In_Frame_Del_p.AT139del|NPTN_uc010ula.1_In_Frame_Del_p.AT50del	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	255_256	Ig-like 3.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						TGCAATACATAGTGGCATCCTGCCCT	0.549		NaN											NaN	NaN	NaN	NaN	NaN	26	96	---		---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30531249_30531251delGCT	uc002dyi.3	+	30	3476_3478	c.3300_3302delGCT	c.(3298-3303)GGGCTG>GGG	p.L1106del	ITGAL_uc002dyj.3_In_Frame_Del_p.L1022del|ITGAL_uc010vev.1_In_Frame_Del_p.L340del	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1106	Helical; (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601		NaN											NaN	NaN	NaN	NaN	NaN	12	719	---		---	---
SRCAP	10847	broad.mit.edu	37	16	30736314	30736314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30736314delC	uc002dze.1	+	25	5954	c.5569delC	c.(5569-5571)CCCfs	p.P1857fs	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1652fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.P1427fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1857	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCGCTCTGGTCCCCCCAGCCC	0.612		NaN											NaN	NaN	NaN	NaN	NaN	7	972	---	Inconclusive	---	---
A1BG	1	broad.mit.edu	37	19	58864380	58864381	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:58864380_58864381delCC	uc002qsd.3	-	3	315_316	c.253_254delGG	c.(253-255)GGTfs	p.G85fs	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	85	Ig-like V-type 1.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CTGGGTGTCACCCGTCAGCAGG	0.634		NaN											NaN	NaN	NaN	NaN	NaN	16	67	---		---	---
IL17RC	84818	broad.mit.edu	37	3	9974358	9974360	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9974358_9974360delTCC	uc003bua.2	+	17	1903_1905	c.1667_1669delTCC	c.(1666-1671)ATCCTC>ATC	p.L559del	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_In_Frame_Del_p.L488del|IL17RC_uc011atp.1_In_Frame_Del_p.L327del|IL17RC_uc003bud.2_In_Frame_Del_p.L29del|IL17RC_uc003bub.2_In_Frame_Del_p.L473del|IL17RC_uc010hct.2_In_Frame_Del_p.L488del|IL17RC_uc010hcu.2_In_Frame_Del_p.L471del|IL17RC_uc010hcv.2_In_Frame_Del_p.L456del|IL17RC_uc011atq.1_In_Frame_Del_p.L473del|IL17RC_uc003buc.2_In_Frame_Del_p.L29del|IL17RC_uc003bue.2_In_Frame_Del_p.L124del|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	559	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						CTTTCCCTCATCCTCCTTCTCAA	0.591		NaN									OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	54	189	---		---	---
SYNCRIP	10492	broad.mit.edu	37	6	86349960	86349963	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:86349960_86349963delTCCT	uc003pla.2	-	4	892_895	c.351_354delAGGA	c.(349-354)AAAGGAfs	p.K117fs	SYNCRIP_uc003pku.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkw.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pky.2_Frame_Shift_Del_p.K19fs|SYNCRIP_uc003pkv.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkx.2_5'UTR|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.K117fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	117_118					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCTCATCTGGTCCTTTACTAGAAT	0.348		NaN											NaN	NaN	NaN	NaN	NaN	18	122	---		---	---
TMEM200A	114801	broad.mit.edu	37	6	130762134	130762134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:130762134delG	uc003qca.2	+	3	1438	c.567delG	c.(565-567)ATGfs	p.M189fs	TMEM200A_uc010kfh.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc010kfi.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc003qcb.2_Frame_Shift_Del_p.M189fs	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	189	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGTTTGATGGGAGAAACAG	0.448		NaN											NaN	NaN	NaN	NaN	NaN	9	60	---		---	---
PDE10A	10846	broad.mit.edu	37	6	165806238	165806240	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:165806238_165806240delTTC	uc003qun.2	-	17	1762_1764	c.1521_1523delGAA	c.(1519-1524)AAGAAC>AAC	p.K507del	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_In_Frame_Del_p.K437del|PDE10A_uc003quo.2_In_Frame_Del_p.K517del	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	507					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCGCCGATAGTTCTTCTTCACAG	0.409		NaN											NaN	NaN	NaN	NaN	NaN	14	96	---		---	---
DLX6	1750	broad.mit.edu	37	7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:96635545_96635547delCAC	uc003uom.2	+	2	172_174	c.172_174delCAC	c.(172-174)CACdel	p.H63del	DLX6AS_uc003uok.2_5'Flank|DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	Error:Variant_position_missing_in_P56179_after_alignment					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.571		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	Splice_Site	DEL	A	A	-	rs112122477		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:149515189delA	uc010lpk.2	+	81	11577	c.11577_splice	c.e81+2	p.E3859_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.562		NaN											NaN	NaN	NaN	NaN	NaN	4	7	---		---	---
KANK1	23189	broad.mit.edu	37	9	713382	713383	+	Frame_Shift_Del	DEL	TA	TA	-	rs144413163		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:713382_713383delTA	uc003zgl.1	+	7	3265_3266	c.2616_2617delTA	c.(2614-2619)TCTATCfs	p.S872fs	KANK1_uc003zgm.2_Frame_Shift_Del_p.S872fs|KANK1_uc003zgn.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgo.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgp.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgq.2_Frame_Shift_Del_p.S714fs|KANK1_uc003zgr.1_Frame_Shift_Del_p.S714fs|KANK1_uc003zgs.1_Frame_Shift_Del_p.S714fs	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	872_873					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCCTGTCGTCTATCAACTCTGT	0.515		NaN											NaN	NaN	NaN	NaN	NaN	29	58	---		---	---
DDX58	23586	broad.mit.edu	37	9	32487490	32487493	+	Frame_Shift_Del	DEL	CTTG	CTTG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:32487490_32487493delCTTG	uc003zra.2	-	9	1509_1512	c.1351_1354delCAAG	c.(1351-1356)CAAGTTfs	p.Q451fs	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Frame_Shift_Del_p.Q406fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.Q248fs|DDX58_uc010mji.2_Frame_Shift_Del_p.Q380fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	451_452					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTATAAACAACTTGCTCCAGTTCC	0.422		NaN											NaN	NaN	NaN	NaN	NaN	8	91	---		---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:140994844_140994846delCCT	uc004fbt.2	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)CCTdel	p.P553del	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567		NaN								HNSCC(15;0.026)			NaN	NaN	NaN	NaN	NaN	7	344	---		---	---
MUC5B	727897	broad.mit.edu	37	11	1278842	1278866	+	Frame_Shift_Del	DEL	GTGACGCCCAGGGTCAGCCCCCGCC	GTGACGCCCAGGGTCAGCCCCCGCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC	uc009ycr.1	+	63	17489_17513	c.17363_17387delGTGACGCCCAGGGTCAGCCCCCGCC	c.(17362-17388)TGTGACGCCCAGGGTCAGCCCCCGCCGfs	p.C5788fs	MUC5B_uc001ltb.2_Frame_Shift_Del_p.C5454fs	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5451_5459	VWFC 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCTGCCCTGTGACGCCCAGGGTCAGCCCCCGCCGTGCAACCGT	0.684		NaN											NaN	NaN	NaN	NaN	NaN	7	9	---		---	---
AKAP6	9472	broad.mit.edu	37	14	33004894	33004908	+	In_Frame_Del	DEL	GCTTCGAGTCTCAGT	GCTTCGAGTCTCAGT	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:33004894_33004908delGCTTCGAGTCTCAGT	uc001wrq.2	+	3	629_643	c.459_473delGCTTCGAGTCTCAGT	c.(457-474)CAGCTTCGAGTCTCAGTG>CAG	p.LRVSV154del	AKAP6_uc010aml.2_In_Frame_Del_p.LRVSV151del	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	154_158					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTG	0.521		NaN											NaN	NaN	NaN	NaN	NaN	18	40	---		---	---
DMXL2	23312	broad.mit.edu	37	15	51778370	51778370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51778370delA	uc002abf.2	-	23	5607	c.5382delT	c.(5380-5382)GATfs	p.D1794fs	DMXL2_uc010ufy.1_Frame_Shift_Del_p.D1794fs|DMXL2_uc010bfa.2_Frame_Shift_Del_p.D1158fs	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1794						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GCAGGAAAGGATCAGGATGTA	0.408		NaN											NaN	NaN	NaN	NaN	NaN	25	38	---		---	---
TRIM16	10626	broad.mit.edu	37	17	15501958	15501975	+	Splice_Site	DEL	ATCCCAGTATCTGCAGGA	ATCCCAGTATCTGCAGGA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:15501958_15501975delATCCCAGTATCTGCAGGA	uc002gor.1	-	14	2701	c.2364_splice	c.e14-1	p.R788_splice	CDRT1_uc010vvy.1_5'UTR|CDRT1_uc010vvz.1_5'UTR|CDRT1_uc002gov.3_Splice_Site_p.R478_splice|CDRT1_uc002gou.2_Splice_Site_p.R86_splice|CDRT1_uc010cos.1_5'UTR			O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;						histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CACTTTTCAGATCCCAGTATCTGCAGGAATCAGGCCAA	0.472		NaN											NaN	NaN	NaN	NaN	NaN	7	13	---		---	---
NF1	4763	broad.mit.edu	37	17	29592283	29592283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:29592283delG	uc002hgg.2	+	36	5094	c.4761delG	c.(4759-4761)TTGfs	p.L1587fs	NF1_uc002hgh.2_Frame_Shift_Del_p.L1566fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L599fs|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1587	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(3)|p.L1587*(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAAGGCTTTGAAAACGTTAA	0.343		NaN	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			NaN	NaN	NaN	NaN	NaN	19	105	---	Valid	---	---
CDK12	51755	broad.mit.edu	37	17	37618605	37618605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37618605delG	uc010cvv.2	+	1	867	c.281delG	c.(280-282)AGGfs	p.R94fs	CDK12_uc010wef.1_Frame_Shift_Del_p.R94fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.R94fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	94					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CTAGACCGAAGGGAGAACGAC	0.522		NaN								TCGA Ovarian(9;0.13)			NaN	NaN	NaN	NaN	NaN	10	53	---		---	---
CNP	1267	broad.mit.edu	37	17	40123969	40123969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40123969delC	uc002hyl.1	+	3	880	c.736delC	c.(736-738)CCCfs	p.P246fs	CNP_uc010wfz.1_Frame_Shift_Del_p.P123fs|CNP_uc002hym.1_Frame_Shift_Del_p.P226fs|CNP_uc010wga.1_Frame_Shift_Del_p.P11fs|CNP_uc002hyn.1_Frame_Shift_Del_p.P11fs	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	246					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGGAAAGAGACCCCCAGGCGT	0.592		NaN											NaN	NaN	NaN	NaN	NaN	16	36	---		---	---
CDH4	1002	broad.mit.edu	37	20	60485588	60485606	+	Frame_Shift_Del	DEL	CAGTGGGGATCCATCCGGG	CAGTGGGGATCCATCCGGG	-	rs35293044		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60485588_60485606delCAGTGGGGATCCATCCGGG	uc002ybn.1	+	9	1313_1331	c.1299_1317delCAGTGGGGATCCATCCGGG	c.(1297-1317)ATCAGTGGGGATCCATCCGGGfs	p.I433fs	CDH4_uc002ybp.1_Frame_Shift_Del_p.I359fs	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	433_439	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGCATCATCAGTGGGGATCCATCCGGGCACTTCAGCG	0.603		NaN											NaN	NaN	NaN	NaN	NaN	7	73	---		---	---
RFPL2	10739	broad.mit.edu	37	22	32590428	32590434	+	Frame_Shift_Del	DEL	TCCCACC	TCCCACC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32590428_32590434delTCCCACC	uc003amg.3	-	3	1099_1105	c.163_169delGGTGGGA	c.(163-171)GGTGGGAATfs	p.G55fs	RFPL2_uc003ame.3_5'Flank|RFPL2_uc003amf.3_Intron|RFPL2_uc003amh.3_Intron	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	55_57							zinc ion binding			skin(1)	1						TTGGTGAGATTCCCACCTCCCACTGGG	0.507		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:15373833_15373835delTCC	uc003bzp.1	-	1	270_272	c.81_83delGGA	c.(79-84)GAGGAA>GAA	p.27_28EE>E	SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Intron|SH3BP5_uc003bzr.1_Intron	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27_28	Glu-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0						catcccctcttcctcctcctcct	0.522		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RFPL4B	442247	broad.mit.edu	37	6	112671551	112671561	+	Frame_Shift_Del	DEL	ACTTAGAAGAA	ACTTAGAAGAA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112671551_112671561delACTTAGAAGAA	uc003pvx.1	+	3	953_963	c.641_651delACTTAGAAGAA	c.(640-651)GACTTAGAAGAAfs	p.D214fs		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	214_217	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTGGATGCTGACTTAGAAGAAATCCAGTTTT	0.455		NaN											NaN	NaN	NaN	NaN	NaN	9	32	---		---	---
CDK5	1020	broad.mit.edu	37	7	150751123	150751134	+	In_Frame_Del	DEL	GGGGTGCTGCAG	GGGGTGCTGCAG	-	rs11541602		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150751123_150751134delGGGGTGCTGCAG	uc003wir.1	-	12	902_913	c.841_852delCTGCAGCACCCC	c.(841-852)CTGCAGCACCCCdel	p.LQHP281del		NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	281_284	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGGAGAAGTAGGGGTGCTGCAGGGCCTCTTCT	0.623		NaN											NaN	NaN	NaN	NaN	NaN	5	8	---		---	---
C8orf34	116328	broad.mit.edu	37	8	69358655	69358656	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:69358655_69358656delTG	uc010lyz.2	+	3	358_359	c.309_310delTG	c.(307-312)GCTGTGfs	p.A103fs	C8orf34_uc010lyx.1_Frame_Shift_Del_p.A103fs|C8orf34_uc010lyy.1_Frame_Shift_Del_p.A103fs|C8orf34_uc003xyb.2_Frame_Shift_Del_p.A78fs	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	103_104					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTGACCTTGCTGTGTCTAATAT	0.337		NaN											NaN	NaN	NaN	NaN	NaN	13	59	---		---	---
YWHAZ	7534	broad.mit.edu	37	8	101936227	101936245	+	Frame_Shift_Del	DEL	TGTATGACTCTTCACTTAA	TGTATGACTCTTCACTTAA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101936227_101936245delTGTATGACTCTTCACTTAA	uc011lhe.1	-	5	793_811	c.616_634delTTAAGTGAAGAGTCATACA	c.(616-636)TTAAGTGAAGAGTCATACAAAfs	p.L206fs	YWHAZ_uc003yjv.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc011lhf.1_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjw.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc010mbq.2_Frame_Shift_Del_p.L129fs|YWHAZ_uc011lhg.1_Frame_Shift_Del_p.L86fs|YWHAZ_uc010mbr.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjx.2_Frame_Shift_Del_p.L206fs|YWHAZ_uc003yjy.2_Frame_Shift_Del_p.L206fs	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	206_212					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GTGCTGTCTTTGTATGACTCTTCACTTAATGTATCAAGT	0.333		NaN											NaN	NaN	NaN	NaN	NaN	16	155	---		---	---
MTBP	27085	broad.mit.edu	37	8	121483136	121483144	+	In_Frame_Del	DEL	AATGGAAGG	AATGGAAGG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:121483136_121483144delAATGGAAGG	uc003ypc.1	+	11	1169_1177	c.1124_1132delAATGGAAGG	c.(1123-1134)AAATGGAAGGAA>AAA	p.WKE376del	MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	376_378					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGTTCAAGAAAATGGAAGGAATATATAGC	0.33		NaN											NaN	NaN	NaN	NaN	NaN	9	125	---		---	---
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:21674920_21674922delCTC	uc004czz.1	-	1	1527_1529	c.985_987delGAG	c.(985-987)GAGdel	p.E329del		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	329	Kelch 1.|Glu-rich.									ovary(1)	1						TGAGCTCCCActcctcctcctcc	0.527		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
LRRC8B	23507	broad.mit.edu	37	1	90058386	90058386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:90058386delG	uc001dni.2	+	8	2703	c.2196delG	c.(2194-2196)TTGfs	p.L732fs	LRRC8B_uc001dnh.2_Frame_Shift_Del_p.L732fs|LRRC8B_uc001dnj.2_Frame_Shift_Del_p.L732fs	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	732	LRR 12.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTTTACTTTTGGGGAAAAATA	0.423		NaN											NaN	NaN	NaN	NaN	NaN	47	69	---		---	---
GPR137C	283554	broad.mit.edu	37	14	53101795	53101798	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:53101795_53101798delAACA	uc001wzu.3	+	7	1252_1255	c.1252_1255delAACA	c.(1252-1257)AACAATfs	p.N418fs	GPR137C_uc001wzt.3_Frame_Shift_Del_p.N434fs	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	418_419	Cytoplasmic (Potential).					integral to membrane					0	Breast(41;0.0716)					TTTAGATTTGAACAATCATCATAG	0.382		NaN											NaN	NaN	NaN	NaN	NaN	15	52	---		---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247389delT	uc002ild.3	-	4	398	c.271delA	c.(271-273)ATCfs	p.I91fs	CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	91	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						CCAGATAAGATTTGTTCCCCT	0.323		NaN											NaN	NaN	NaN	NaN	NaN	9	154	---		---	---
GRLF1	2909	broad.mit.edu	37	19	47423804	47423804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:47423804delC	uc010ekv.2	+	1	1872	c.1872delC	c.(1870-1872)GACfs	p.D624fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	624					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CAAATGATGACAAGTATGTGA	0.448		NaN											NaN	NaN	NaN	NaN	NaN	121	131	---		---	---
MYH9	4627	broad.mit.edu	37	22	36698721	36698722	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:36698721_36698722delCT	uc003apg.2	-	20	2622_2623	c.2391_2392delAG	c.(2389-2394)AAAGCAfs	p.K797fs	MYH9_uc003aph.1_Frame_Shift_Del_p.K661fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	797_798	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTGGCAAATGCTCTGTGTGGTG	0.599		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				NaN	NaN	NaN	NaN	NaN	39	43	---		---	---
EP300	2033	broad.mit.edu	37	22	41523722	41523723	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:41523722_41523723delAC	uc003azl.3	+	4	1533_1534	c.1138_1139delAC	c.(1138-1140)ACAfs	p.T380fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	380	TAZ-type 1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AAACCACATGACACACTGCCAG	0.51		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				NaN	NaN	NaN	NaN	NaN	55	72	---	Valid	---	---
NOP14	8602	broad.mit.edu	37	4	2954005	2954006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:2954005_2954006insA	uc003ggj.1	-	6	938_939	c.866_867insT	c.(865-867)CTGfs	p.L289fs	C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Frame_Shift_Ins_p.L35fs|NOP14_uc003ggk.3_Frame_Shift_Ins_p.L289fs|NOP14_uc003ggl.2_Frame_Shift_Ins_p.L289fs|NOP14_uc010icq.1_RNA	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	289					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						ACCCTACCTCCAGCTTCCTGAG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	23	85	---		---	---
MLL3	58508	broad.mit.edu	37	7	151843779	151843788	+	Frame_Shift_Del	DEL	TTCTCACACA	TTCTCACACA	-	rs142657994	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			TTCTCACACA	-	TTCTCACACA	TTCTCACACA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:151843779_151843788delTTCTCACACA	uc003wla.2	-	53	14146_14155	c.13927_13936delTGTGTGAGAA	c.(13927-13938)TGTGTGAGAAAAfs	p.C4643fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.C3761fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.C801fs|MLL3_uc003wky.2_Frame_Shift_Del_p.C2207fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4643_4646	FYR C-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCAGACTTTTTTCTCACACATGCCACAGGC	0.419		NaN	N		medulloblastoma						OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	25	52	---	Valid	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971093	+	Frame_Shift_Del	DEL	CC	CC	-	rs137854599		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			CC	-	CC	CC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:21971092_21971093delCC	uc003zpk.2	-	2	477_478	c.265_266delGG	c.(265-267)GGCfs	p.G89fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.G144fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	89	ANK 3.		G -> D (in CMM2; somatic mutation).|G -> S (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGGAAGCCCTCCCGGGCA	0.757		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			NaN	NaN	NaN	NaN	NaN	17	2	---	Valid	---	---
SPTAN1	6709	broad.mit.edu	37	9	131381207	131381207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381207delG	uc004bvl.3	+	43	5756	c.5643delG	c.(5641-5643)GAGfs	p.E1881fs	SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1886fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1861fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1881	Spectrin 20.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATGTGGAAGAGGAAGAAGCCT	0.498		NaN											NaN	NaN	NaN	NaN	NaN	41	7	---		---	---
TIGD3	220359	broad.mit.edu	37	11	65124162	65124162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:65124162delC	uc001odo.3	+	2	1046	c.883delC	c.(883-885)CCCfs	p.P295fs		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	295	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CACCACGCCTCCCCTGCCCAG	0.652		NaN											NaN	NaN	NaN	NaN	NaN	24	69	---		---	---
LTBP3	4054	broad.mit.edu	37	11	65315174	65315174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr11:65315174delC	uc001oej.2	-	13	2234	c.1965delG	c.(1963-1965)GGGfs	p.G655fs	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Frame_Shift_Del_p.G85fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.G538fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.G655fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.G356fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G566fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	655	EGF-like 4; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGCACGAGCGCCCCCCGGCGC	0.736		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs66793222		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr15:78913068_78913070delCAG	uc002bec.2	-	1	253_255	c.67_69delCTG	c.(67-69)CTGdel	p.L23del	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	23			Missing.		activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						gcagcagagacagcagcagcagc	0.601		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
SCRT2	85508	broad.mit.edu	37	20	644846	644847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:644846_644847insC	uc002wec.2	-	2	970_971	c.392_393insG	c.(391-393)GGCfs	p.G131fs	SRXN1_uc002web.2_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						cgtctcccgagccccccgcgtc	0.347		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:30309591delA	uc002wwl.2	-	2	797	c.431delT	c.(430-432)TTCfs	p.F144fs	BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Intron|BCL2L1_uc002wwn.2_Frame_Shift_Del_p.F144fs|BCL2L1_uc002wwo.1_Frame_Shift_Del_p.F144fs	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	BCL2-like 1 isoform 1	144	BH1.				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			lung(1)|central_nervous_system(1)	2	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	1557	---		---	---
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr20:58467047delT	uc002yaz.2	-	23	2501	c.2362delA	c.(2362-2364)ATGfs	p.M788fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323		NaN											NaN	NaN	NaN	NaN	NaN	7	74	---		---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773342	145773344	+	In_Frame_Del	DEL	CTG	CTG	-	rs77462981		TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chr8:145773342_145773344delCTG	uc003zdt.1	-	6	1681_1683	c.1126_1128delCAG	c.(1126-1128)CAGdel	p.Q376del	ARHGAP39_uc011llk.1_In_Frame_Del_p.Q376del|ARHGAP39_uc003zds.1_In_Frame_Del_p.Q376del	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	376					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CGGGACACTTCTGCTTGGTGAGC	0.704		NaN											NaN	NaN	NaN	NaN	NaN	9	4	---		---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-GC-A3I6-01A-11D-A20D-08	TCGA-GC-A3I6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	372feefe-ee84-4833-8651-8f023f38a56a	f2da1011-c718-4bef-9180-5b846cf31308	g.chrX:152087570_152087572delGAG	uc010ntv.1	+	7	512_514	c.475_477delGAG	c.(475-477)GAGdel	p.E165del	ZNF185_uc011myg.1_In_Frame_Del_p.E165del|ZNF185_uc011myh.1_In_Frame_Del_p.E165del|ZNF185_uc011myi.1_In_Frame_Del_p.E165del|ZNF185_uc011myj.1_In_Frame_Del_p.E165del|ZNF185_uc011myk.1_In_Frame_Del_p.E165del|ZNF185_uc004fgw.3_In_Frame_Del_p.E30del|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.522		NaN											NaN	NaN	NaN	NaN	NaN	7	38	---		---	---
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:152324558_152324559delTG	uc001ezw.3	-	3	5776_5777	c.5703_5704delCA	c.(5701-5706)CACAGCfs	p.H1901fs	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901_1902							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515		NaN											NaN	NaN	NaN	NaN	NaN	7	468	---		---	---
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:149885018_149885019insC	uc001etg.2	-	2	865_866	c.374_375insG	c.(373-375)GGCfs	p.G125fs	SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	125	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629		NaN											NaN	NaN	NaN	NaN	NaN	7	843	---		---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150551492_150551494delTCC	uc001euz.2	-	1	643_645	c.513_515delGGA	c.(511-516)GAGGAC>GAC	p.E171del	MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635		NaN											NaN	NaN	NaN	NaN	NaN	9	397	---		---	---
LRP4	4038	broad.mit.edu	37	11	46916236	46916243	+	Frame_Shift_Del	DEL	CAAGCTCG	CAAGCTCG	-	rs141108617		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:46916236_46916243delCAAGCTCG	uc001ndn.3	-	12	1583_1590	c.1437_1444delCGAGCTTG	c.(1435-1446)CGCGAGCTTGTCfs	p.R479fs		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	479_482	Extracellular (Potential).|LDL-receptor class B 1.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GACCAGAAGACAAGCTCGCGGCGGTGGT	0.587		NaN											NaN	NaN	NaN	NaN	NaN	11	51	---		---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:123777441_123777442insT	uc010saa.1	+	1	303_304	c.303_304insT	c.(301-306)CTGTTTfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	101_102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436		NaN											NaN	NaN	NaN	NaN	NaN	8	274	---		---	---
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:40282508delT	uc001zkm.1	+	16	2611	c.2561delT	c.(2560-2562)ATTfs	p.I854fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358		NaN											NaN	NaN	NaN	NaN	NaN	8	302	---		---	---
TP53	7157	broad.mit.edu	37	17	7579413	7579414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:7579413_7579414insC	uc002gim.2	-	4	467_468	c.273_274insG	c.(271-276)TGGCCCfs	p.W91fs	TP53_uc002gig.1_Frame_Shift_Ins_p.W91fs|TP53_uc002gih.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.W91fs|TP53_uc010cni.1_Frame_Shift_Ins_p.W91fs|TP53_uc002gij.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.W52fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.W106fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	91_92	Interaction with WWOX.		P -> S (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93fs*30(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P92A(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGACAGGGGCCAGGAGGGGG	0.629		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	97	16	---	Valid	---	---
WDR33	55339	broad.mit.edu	37	2	128471200	128471200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128471200delG	uc002tpg.1	-	18	3448	c.3265delC	c.(3265-3267)CGGfs	p.R1089fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1089					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGGGATCCCGGGGGAAACGT	0.617		NaN											NaN	NaN	NaN	NaN	NaN	7	607	---		---	---
EP300	2033	broad.mit.edu	37	22	41572411	41572411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41572411delC	uc003azl.3	+	30	5335	c.4940delC	c.(4939-4941)GCCfs	p.A1647fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1647	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTCCGAAGAGCCCAGTGGTCC	0.572		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				NaN	NaN	NaN	NaN	NaN	27	68	---	Valid	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:129268107_129268108insA	uc003emu.2	+	3	647_648	c.642_643insA	c.(640-645)GCTAGGfs	p.A214fs	H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	214_215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1						CGGGAGAGGCTAGGAAGGTGCC	0.653		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SLC25A4	291	broad.mit.edu	37	4	186067010	186067011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186067010_186067011insA	uc003ixd.2	+	3	825_826	c.696_697insA	c.(694-699)GACACTfs	p.D232fs	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	232_233	Helical; Name=5; (By similarity).|Solcar 3.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ACCCCTTTGACACTGTTCGTCG	0.52		NaN											NaN	NaN	NaN	NaN	NaN	30	12	---		---	---
FOXQ1	94234	broad.mit.edu	37	6	1313374	1313376	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			CAA	-	CAA	CAA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:1313374_1313376delCAA	uc003mtl.3	+	1	700_702	c.435_437delCAA	c.(433-438)ATCAAC>ATC	p.N146del		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	146	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGCGGAGATCAACGAGTACCTC	0.64		NaN											NaN	NaN	NaN	NaN	NaN	22	88	---	Valid	---	---
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:25921520delT	uc011dkb.1	-	3	444	c.361delA	c.(361-363)ATGfs	p.M121fs	SLC17A2_uc011dkc.1_Frame_Shift_Del_p.M121fs|SLC17A2_uc003nfl.2_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GCACCAAGCATTTTTTTTGCT	0.453		NaN											NaN	NaN	NaN	NaN	NaN	7	236	---		---	---
C6orf174	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:127804080delT	uc003qbd.2	-	5	2400	c.1535delA	c.(1534-1536)AAGfs	p.K512fs		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	512	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTGTTGAGCCTTTTTTTCAGA	0.294		NaN											NaN	NaN	NaN	NaN	NaN	13	925	---		---	---
PHLDA3	23612	broad.mit.edu	37	1	201437720	201437728	+	In_Frame_Del	DEL	CTCCACGCA	CTCCACGCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:201437720_201437728delCTCCACGCA	uc001gwq.2	-	1	572_580	c.187_195delTGCGTGGAG	c.(187-195)TGCGTGGAGdel	p.CVE63del	PHLDA3_uc009wzx.2_5'UTR	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A,	63_65	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding				0						GCCCGGTGCTCTCCACGCACTCCACGGCC	0.689		NaN											NaN	NaN	NaN	NaN	NaN	10	55	---		---	---
IL19	29949	broad.mit.edu	37	1	207013293	207013294	+	In_Frame_Ins	INS	-	-	ATC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207013293_207013294insATC	uc001hep.2	+	5	1248_1249	c.309_310insATC	c.(307-312)insATC	p.104_105insI	IL19_uc001heo.2_In_Frame_Ins_p.142_143insI|IL19_uc010prx.1_In_Frame_Ins_p.104_105insI	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	interleukin 19 isoform 2 precursor	104_105					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTTGAGAAAAATCAGCAGCAT	0.505		NaN											NaN	NaN	NaN	NaN	NaN	57	102	---		---	---
ADM	133	broad.mit.edu	37	11	10327868	10327888	+	Splice_Site	DEL	CCCGCCCGCAGCAGTCCGGAT	CCCGCCCGCAGCAGTCCGGAT	-	rs2228573	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT	uc001mik.1	+	3	866	c.249_splice	c.e3-1	p.S83_splice	ADM_uc001mil.1_Splice_Site_p.S83_splice|ADM_uc001mim.1_Splice_Site_p.S36_splice	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor						blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TCCCCCTCCCCCCGCCCGCAGCAGTCCGGATGCCGCCCGCA	0.638		NaN											NaN	NaN	NaN	NaN	NaN	14	22	---		---	---
E2F8	79733	broad.mit.edu	37	11	19259556	19259570	+	In_Frame_Del	DEL	TGGTAGGTGTGGTTA	TGGTAGGTGTGGTTA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:19259556_19259570delTGGTAGGTGTGGTTA	uc001mpm.2	-	3	647_661	c.125_139delTAACCACACCTACCA	c.(124-141)TTAACCACACCTACCAAG>TAG	p.42_47LTTPTK>*	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_In_Frame_Del_p.42_47LTTPTK>*|E2F8_uc001mpo.1_In_Frame_Del_p.42_47LTTPTK>*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	42_47					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCCTTGGGCTTGGTAGGTGTGGTTAAAGGGCCAAA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	70	96	---		---	---
CPSF6	11052	broad.mit.edu	37	12	69652399	69652416	+	In_Frame_Del	DEL	GGTCCTCCAGGCCCACCT	GGTCCTCCAGGCCCACCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT	uc001sut.3	+	6	834_851	c.724_741delGGTCCTCCAGGCCCACCT	c.(724-741)GGTCCTCCAGGCCCACCTdel	p.GPPGPP248del	CPSF6_uc001suu.3_In_Frame_Del_p.GPPGPP285del|CPSF6_uc010stk.1_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	248_253	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAG	0.491		NaN											NaN	NaN	NaN	NaN	NaN	7	71	---		---	---
ZC3H13	23091	broad.mit.edu	37	13	46619528	46619529	+	Frame_Shift_Ins	INS	-	-	TGCTGTACTGCCAG			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:46619528_46619529insTGCTGTACTGCCAG	uc010tfw.1	-	1	120_121	c.114_115insCTGGCAGTACAGCA	c.(112-117)GCAGAGfs	p.A38fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.A38fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.A38fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	38_39	C3H1-type.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACTCACCTCTGCTGTACTGC	0.416		NaN											NaN	NaN	NaN	NaN	NaN	25	178	---		---	---
CCDC33	80125	broad.mit.edu	37	15	74628313	74628317	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74628313_74628317delGCCCC	uc002axo.2	+	19	2581_2585	c.2187_2191delGCCCC	c.(2185-2193)GAGCCCCTGfs	p.E729fs	CCDC33_uc002axp.2_Intron|CCDC33_uc002axq.2_3'UTR|CCDC33_uc002axr.2_3'UTR	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	932_934							protein binding			ovary(3)|skin(2)	5						CAGAGCTGGAGCCCCTGCTGCCCAG	0.634		NaN											NaN	NaN	NaN	NaN	NaN	22	65	---		---	---
DNAH3	55567	broad.mit.edu	37	16	21042362	21042366	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:21042362_21042366delCTTAC	uc010vbe.1	-	37	5439	c.5439_splice	c.e37+1	p.K1813_splice		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGGGTCAATACTTACCTTTTTATTG	0.332		NaN											NaN	NaN	NaN	NaN	NaN	32	23	---		---	---
TP53	7157	broad.mit.edu	37	17	7572963	7572963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7572963delT	uc002gim.2	-	11	1340	c.1146delA	c.(1144-1146)AAAfs	p.K382fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.K250fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.K382fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	382	Basic (repression of DNA-binding).|Interaction with CARM1.			K->R: Abolishes monomethylation by SETD8.|K->A: Abolishes acetylation by CREBBP.	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.K382fs*40(3)|p.K382fs*13(2)|p.?(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAACATGAGTTTTTTATGGC	0.527		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			NaN	NaN	NaN	NaN	NaN	62	88	---	Valid	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133814	46133814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46133814delG	uc002imz.3	+	3	1228	c.577delG	c.(577-579)GACfs	p.D193fs	NFE2L1_uc002ina.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc010wle.1_Frame_Shift_Del_p.D35fs|NFE2L1_uc010wlf.1_Frame_Shift_Del_p.D67fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.D182fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	193	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						TGAGGTTTTTGACTATAGTCA	0.547		NaN											NaN	NaN	NaN	NaN	NaN	73	288	---		---	---
CXXC1	30827	broad.mit.edu	37	18	47812527	47812533	+	Frame_Shift_Del	DEL	CCCTCCA	CCCTCCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:47812527_47812533delCCCTCCA	uc002leq.3	-	4	1051_1057	c.318_324delTGGAGGG	c.(316-324)GGTGGAGGGfs	p.G106fs	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Frame_Shift_Del_p.G106fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.G106fs|CXXC1_uc002les.2_Frame_Shift_Del_p.G106fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	106_108					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCCTCTTGCGCCCTCCACCCTCATCCC	0.638		NaN											NaN	NaN	NaN	NaN	NaN	39	62	---		---	---
CYP4F3	4051	broad.mit.edu	37	19	15757870	15757874	+	Frame_Shift_Del	DEL	GTACC	GTACC	-	rs150284363		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:15757870_15757874delGTACC	uc002nbj.2	+	4	402_406	c.352_356delGTACC	c.(352-357)GTACCAfs	p.V118fs	CYP4F3_uc010xok.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xol.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	118_119					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						AGCTGCCATTGTACCAAAGGACAAG	0.566		NaN											NaN	NaN	NaN	NaN	NaN	20	79	---		---	---
HAMP	57817	broad.mit.edu	37	19	35773490	35773501	+	In_Frame_Del	DEL	AGCTCCCAGATC	AGCTCCCAGATC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35773490_35773501delAGCTCCCAGATC	uc002nyw.2	+	1	81_92	c.10_21delAGCTCCCAGATC	c.(10-21)AGCTCCCAGATCdel	p.SSQI4del		NM_021175	NP_066998	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide preproprotein	4_7					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATGGCACTGAGCTCCCAGATCTGGGCCGCTT	0.623		NaN											NaN	NaN	NaN	NaN	NaN	32	131	---		---	---
SLC27A5	10998	broad.mit.edu	37	19	59010912	59010912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:59010912delG	uc002qtc.2	-	7	1724	c.1614delC	c.(1612-1614)GCCfs	p.A538fs	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	538	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGCGGTCCATGGCCAGTACGT	0.692		NaN											NaN	NaN	NaN	NaN	NaN	33	45	---		---	---
CABIN1	23523	broad.mit.edu	37	22	24572198	24572215	+	In_Frame_Del	DEL	GCAGAGGCTGCCCTGGGC	GCAGAGGCTGCCCTGGGC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC	uc002zzi.1	+	35	6287_6304	c.6160_6177delGCAGAGGCTGCCCTGGGC	c.(6160-6177)GCAGAGGCTGCCCTGGGCdel	p.AEAALG2054del	CABIN1_uc002zzj.1_In_Frame_Del_p.AEAALG1975del|CABIN1_uc002zzl.1_In_Frame_Del_p.AEAALG2054del|CABIN1_uc010gul.1_Intron	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2054_2059					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTG	0.693		NaN											NaN	NaN	NaN	NaN	NaN	7	2	---		---	---
SOX10	6663	broad.mit.edu	37	22	38374040	38374040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:38374040delC	uc003aun.1	-	3	809	c.531delG	c.(529-531)CGGfs	p.R177fs	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.R177fs	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	177						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					CGTTCTTCCGCCGCCTGGGCT	0.667		NaN											NaN	NaN	NaN	NaN	NaN	9	10	---		---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273431	2273439	+	In_Frame_Del	DEL	GCCAGTTCA	GCCAGTTCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:2273431_2273439delGCCAGTTCA	uc003gex.1	-	11	2710_2718	c.2391_2399delTGAACTGGC	c.(2389-2400)TCTGAACTGGCA>TCA	p.ELA798del	ZFYVE28_uc011bvk.1_In_Frame_Del_p.ELA728del|ZFYVE28_uc011bvl.1_In_Frame_Del_p.ELA768del|ZFYVE28_uc003gew.1_In_Frame_Del_p.ELA684del	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	798_800					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GGTCTTGGCTGCCAGTTCAGAGGATGACA	0.627		NaN											NaN	NaN	NaN	NaN	NaN	40	128	---		---	---
SLC10A4	201780	broad.mit.edu	37	4	48485996	48486009	+	Frame_Shift_Del	DEL	CTGCTGGCAGCGCT	CTGCTGGCAGCGCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:48485996_48486009delCTGCTGGCAGCGCT	uc003gyc.2	+	1	637_650	c.418_431delCTGCTGGCAGCGCT	c.(418-432)CTGCTGGCAGCGCTCfs	p.L140fs		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	140_144	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						CGTGGGCGCGCTGCTGGCAGCGCTCTGCCAGTTC	0.715		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:153896047_153896048insC	uc003inf.2	+	11	1679_1680	c.1604_1605insC	c.(1603-1605)AACfs	p.N535fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	535					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	4	6	---		---	---
DNAH5	1767	broad.mit.edu	37	5	13841840	13841848	+	In_Frame_Del	DEL	ACCTGTTTC	ACCTGTTTC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:13841840_13841848delACCTGTTTC	uc003jfd.2	-	33	5479_5487	c.5437_5445delGAAACAGGT	c.(5437-5445)GAAACAGGTdel	p.ETG1813del		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1813_1815	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTAGTTGGAAACCTGTTTCTTGAATATTT	0.344		NaN							Kartagener_syndrome				NaN	NaN	NaN	NaN	NaN	24	76	---		---	---
AFF4	27125	broad.mit.edu	37	5	132216839	132216840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:132216839_132216840insT	uc003kyd.2	-	21	3811_3812	c.3403_3404insA	c.(3403-3405)ATCfs	p.I1135fs	AFF4_uc011cxk.1_Frame_Shift_Ins_p.I813fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1135					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCCC	0.381		NaN											NaN	NaN	NaN	NaN	NaN	15	30	---		---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865328	140865328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140865328delG	uc003lky.1	+	1	588	c.588delG	c.(586-588)CTGfs	p.L196fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Frame_Shift_Del_p.L196fs	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	196	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCCTGGAGAAGCCTT	0.587		NaN											NaN	NaN	NaN	NaN	NaN	10	56	---		---	---
INTS1	26173	broad.mit.edu	37	7	1517411	1517412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:1517411_1517412insC	uc003skn.2	-	34	4892_4893	c.4791_4792insG	c.(4789-4794)GGGAAGfs	p.G1597fs	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1597_1598					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACCCGGCTTCCCCCCAGCCA	0.693		NaN											NaN	NaN	NaN	NaN	NaN	20	27	---		---	---
GIMAP2	26157	broad.mit.edu	37	7	150390132	150390133	+	Frame_Shift_Ins	INS	-	-	CACAC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:150390132_150390133insCACAC	uc003who.2	+	3	846_847	c.758_759insCACAC	c.(757-759)TACfs	p.Y253fs	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	253						integral to membrane	GTP binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAGAAGTTACACAGCCTTGG	0.371		NaN											NaN	NaN	NaN	NaN	NaN	14	71	---		---	---
ILDR2	387597	broad.mit.edu	37	1	166889977	166889979	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:166889977_166889979delCTC	uc001gdx.1	-	9	1905_1907	c.1849_1851delGAG	c.(1849-1851)GAGdel	p.E617del		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	617	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						TCCTCTTCTTCTCCGAGTTGCTG	0.685		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
OR2M3	127062	broad.mit.edu	37	1	248366372	248366372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr1:248366372delG	uc010pzg.1	+	1	3	c.3delG	c.(1-3)ATGfs	p.M1fs		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACACATCATGGCAAGGGAGA	0.438		NaN											NaN	NaN	NaN	NaN	NaN	41	149	---		---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr13:25671333delA	uc001upy.2	+	1	1058	c.997delA	c.(997-999)AAAfs	p.K333fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428		NaN											NaN	NaN	NaN	NaN	NaN	12	153	---		---	---
CREBBP	1387	broad.mit.edu	37	16	3828084	3828085	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr16:3828084_3828085insC	uc002cvv.2	-	10	2244_2245	c.2040_2041insG	c.(2038-2043)GGGAACfs	p.G680fs	CREBBP_uc002cvw.2_Frame_Shift_Ins_p.G642fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	680_681					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGCTGGTTCCCCAAGATGC	0.46		NaN	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				NaN	NaN	NaN	NaN	NaN	39	108	---		---	---
EFCAB5	374786	broad.mit.edu	37	17	28296048	28296049	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr17:28296048_28296049insA	uc002het.2	+	4	622_623	c.430_431insA	c.(430-432)GAAfs	p.E144fs	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Frame_Shift_Ins_p.E88fs|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Frame_Shift_Ins_p.E23fs|EFCAB5_uc010csf.2_Frame_Shift_Ins_p.E23fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	144							calcium ion binding			ovary(1)|skin(1)	2						GAAGGAACTAGAAAAAAAGGCT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	6	8	---		---	---
SCARF2	91179	broad.mit.edu	37	22	20785803	20785803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr22:20785803delC	uc002zsj.1	-	4	461	c.356delG	c.(355-357)GGCfs	p.G119fs	SCARF2_uc002zsk.1_Frame_Shift_Del_p.G119fs	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	119	Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGTCGGGGCCCCAGAACTG	0.716		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861467	27861477	+	Frame_Shift_Del	DEL	GCGAGGCTTCC	GCGAGGCTTCC	-	rs142034002	byFrequency	TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:27861467_27861477delGCGAGGCTTCC	uc003nkc.1	+	1	265_275	c.227_237delGCGAGGCTTCC	c.(226-237)GGCGAGGCTTCCfs	p.G76fs	HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	76_79					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CGCATCGCTGGCGAGGCTTCCCGCCTGGCGC	0.616		NaN											NaN	NaN	NaN	NaN	NaN	28	67	---		---	---
IGF2R	3482	broad.mit.edu	37	6	160500714	160500721	+	Frame_Shift_Del	DEL	ACCAAGGG	ACCAAGGG	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr6:160500714_160500721delACCAAGGG	uc003qta.2	+	38	5729_5736	c.5581_5588delACCAAGGG	c.(5581-5589)ACCAAGGGGfs	p.T1861fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1861_1863	13.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCTCTCAGGCACCAAGGGGGCATCCTTT	0.562		NaN											NaN	NaN	NaN	NaN	NaN	8	21	---		---	---
ACTL6B	51412	broad.mit.edu	37	7	100252715	100252716	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chr7:100252715_100252716insT	uc003uvy.2	-	4	402_403	c.295_296insA	c.(295-297)ATCfs	p.I99fs	ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	99					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGATCCAGGATGGCTCGGAAG	0.599		NaN											NaN	NaN	NaN	NaN	NaN	9	30	---		---	---
CUL4B	8450	broad.mit.edu	37	X	119679350	119679350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A3RD-01A-12D-A22Z-08	TCGA-GC-A3RD-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7646cdea-bd75-4370-afef-81a8a0b6f194	05d7becd-5cf5-4f96-8a57-e211e00071f9	g.chrX:119679350delA	uc004esw.2	-	7	1360	c.923delT	c.(922-924)TTGfs	p.L308fs	CUL4B_uc010nqq.2_Frame_Shift_Del_p.L7fs|CUL4B_uc004esv.2_Frame_Shift_Del_p.L290fs	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	308					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						ATCCAGAAACAAAAAAATGCT	0.308		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
KLF5	688	broad.mit.edu	37	13	73636680	73636683	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			CAAG	-	CAAG	CAAG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:73636680_73636683delCAAG	uc001vje.2	+	2	1267_1270	c.943_946delCAAG	c.(943-948)CAAGCAfs	p.Q315fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.Q224fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	315_316					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGATAGACAAGCAGAGATGCT	0.495		NaN											NaN	NaN	NaN	NaN	NaN	19	142	---	Valid	---	---
OR4M1	441670	broad.mit.edu	37	14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:20248931delG	uc010tku.1	+	1	450	c.450delG	c.(448-450)ATGfs	p.M150fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTGGATGGGGGGCTTCA	0.502		NaN											NaN	NaN	NaN	NaN	NaN	7	582	---		---	---
ZFP36L1	677	broad.mit.edu	37	14	69256630	69256631	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:69256630_69256631insG	uc001xkh.1	-	2	766_767	c.636_637insC	c.(634-639)GCCACCfs	p.A212fs	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.A212fs	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	212_213					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		gcagcggcggtggcagcggcAC	0.589		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	30	140	---	Valid	---	---
FBN1	2200	broad.mit.edu	37	15	48826273	48826286	+	Splice_Site	DEL	TTACCTTCACATTT	TTACCTTCACATTT	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:48826273_48826286delTTACCTTCACATTT	uc001zwx.1	-	8	1190	c.862_splice	c.e8+1	p.D288_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAGATTTCTTACCTTCACATTTTTGTGACACT	0.435		NaN											NaN	NaN	NaN	NaN	NaN	11	586	---		---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073515	3073517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:3073515_3073517delCTC	uc002csx.1	-	3	243_245	c.110_112delGAG	c.(109-114)GGAGCT>GCT	p.G37del	HCFC1R1_uc002csy.1_In_Frame_Del_p.G37del|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependant)	37						cytoplasm|nucleus					0						ATGGGCACAGCTCCTCGGAGAGG	0.626		NaN											NaN	NaN	NaN	NaN	NaN	9	43	---		---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140767492_140767497delTGCCAG	uc003lkc.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)CTGCCAGTG>CTG	p.PV15del	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_In_Frame_Del_p.PV15del	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	15_16					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617		NaN									OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	5	3	---		---	---
IQGAP3	128239	broad.mit.edu	37	1	156530742	156530743	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr1:156530742_156530743insC	uc001fpf.2	-	11	1187_1188	c.1112_1113insG	c.(1111-1113)GGTfs	p.G371fs	IQGAP3_uc009wsb.1_Frame_Shift_Ins_p.G328fs	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	371					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCCTGATCACCCTTTGTGTT	0.525		NaN											NaN	NaN	NaN	NaN	NaN	7	113	---		---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	9	1499_1501	c.1174_1176delCTG	c.(1174-1176)CTGdel	p.L392del	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626		NaN											NaN	NaN	NaN	NaN	NaN	7	154	---		---	---
PCNXL3	399909	broad.mit.edu	37	11	65393419	65393421	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr11:65393419_65393421delCTT	uc001oey.2	+	20	3273_3275	c.3273_3275delCTT	c.(3271-3276)GGCTTC>GGC	p.F1093del	PCNXL3_uc009yqn.2_In_Frame_Del_p.F53del|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1093	Helical; (Potential).					integral to membrane					0						GGGCCGTGGGCTTCTTCACACAT	0.606		NaN									OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	9	26	---		---	---
RB1	5925	broad.mit.edu	37	13	49037882	49037897	+	Frame_Shift_Del	DEL	ATGTATGGCATATGCA	ATGTATGGCATATGCA	-	rs137853296		TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08			ATGTATGGCATATGCA	-	ATGTATGGCATATGCA	ATGTATGGCATATGCA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr13:49037882_49037897delATGTATGGCATATGCA	uc001vcb.2	+	21	2288_2303	c.2122_2137delATGTATGGCATATGCA	c.(2122-2139)ATGTATGGCATATGCAAAfs	p.M708fs		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	708_713	Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)|p.I703_E737del(2)|p.C712_A727del(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGTGTTCCATGTATGGCATATGCAAAGTGAAGAA	0.296		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			NaN	NaN	NaN	NaN	NaN	8	36	---	Valid	---	---
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr15:22382920_22382921insT	uc001yuc.1	+	7	1429_1430	c.448_449insT	c.(448-450)CTTfs	p.L150fs	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Frame_Shift_Ins_p.L150fs	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535		NaN											NaN	NaN	NaN	NaN	NaN	23	132	---		---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr19:38882864_38882866delCCT	uc002oim.2	+	3	363_365	c.359_361delCCT	c.(358-363)CCCTCC>CCC	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.537		NaN											NaN	NaN	NaN	NaN	NaN	7	46	---		---	---
MMP9	4318	broad.mit.edu	37	20	44639945	44639945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr20:44639945delC	uc002xqz.2	+	5	832	c.813delC	c.(811-813)TGCfs	p.C271fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	271	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTGGCTTCTGCCCCAGCGAGA	0.552		NaN											NaN	NaN	NaN	NaN	NaN	39	82	---		---	---
ANXA6	309	broad.mit.edu	37	5	150515861	150515861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3YS-01A-11D-A23M-08	TCGA-GC-A3YS-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a310d405-19f3-4dfb-be83-c4e2d949c067	0c579d4b-726a-4969-acb5-e0f3b977778e	g.chr5:150515861delC	uc003ltl.1	-	7	597	c.445delG	c.(445-447)GACfs	p.D149fs	ANXA6_uc011dcp.1_Frame_Shift_Del_p.D117fs|ANXA6_uc003ltm.1_Frame_Shift_Del_p.D149fs|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	149	Annexin 2.					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGGTGTCGCCGATGATG	0.547		NaN											NaN	NaN	NaN	NaN	NaN	27	34	---		---	---
ELF3	1999	broad.mit.edu	37	1	201981484	201981494	+	Frame_Shift_Del	DEL	CTGATGAGCTC	CTGATGAGCTC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			CTGATGAGCTC	-	CTGATGAGCTC	CTGATGAGCTC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201981484_201981494delCTGATGAGCTC	uc001gxg.3	+	3	3590_3600	c.398_408delCTGATGAGCTC	c.(397-408)TCTGATGAGCTCfs	p.S133fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.S133fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.S133fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	133_136					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TCCAGCTCTTCTGATGAGCTCAGTTGGATCA	0.583		NaN											NaN	NaN	NaN	NaN	NaN	66	66	---	Valid	---	---
SRP9	6726	broad.mit.edu	37	1	225977051	225977051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:225977051delA	uc001hpg.2	+	3	379	c.251delA	c.(250-252)GAAfs	p.E84fs	SRP9_uc001hpf.3_RNA|SRP9_uc001hph.2_3'UTR|SRP9_uc001hpi.3_RNA	NM_003133	NP_003124	P49458	SRP09_HUMAN	signal recognition particle 9kDa isoform 2	84					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding				0						GTTACCATGGAAACTGAGTGA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	16	15	---		---	---
CALHM2	51063	broad.mit.edu	37	10	105209459	105209459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:105209459delC	uc001kwz.2	-	2	626	c.240delG	c.(238-240)TGGfs	p.W80fs	CALHM2_uc001kxa.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxc.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxb.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxd.1_Frame_Shift_Del_p.W80fs	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	80						integral to membrane				skin(1)	1						CCACGAGGTTCCAGGTGTGGT	0.662		NaN											NaN	NaN	NaN	NaN	NaN	28	104	---		---	---
KIAA0100	9703	broad.mit.edu	37	17	26966333	26966334	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966333_26966334insT	uc002hbu.2	-	11	1327_1328	c.1228_1229insA	c.(1228-1230)AGAfs	p.R410fs	KIAA0100_uc002hbv.2_Frame_Shift_Ins_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	410						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCTT	0.436		NaN											NaN	NaN	NaN	NaN	NaN	97	135	---		---	---
CARD14	79092	broad.mit.edu	37	17	78156494	78156494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:78156494delC	uc002jxw.1	+	3	449	c.254delC	c.(253-255)GCCfs	p.A85fs	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.A85fs|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	85	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGAACGGGGCCATCGCCTTC	0.592		NaN											NaN	NaN	NaN	NaN	NaN	19	41	---		---	---
MUC16	94025	broad.mit.edu	37	19	9073469	9073470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9073469_9073470insA	uc002mkp.2	-	3	14180_14181	c.13976_13977insT	c.(13975-13977)TTCfs	p.F4659fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4661	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCTACTGAGAAAATATCTGG	0.455		NaN											NaN	NaN	NaN	NaN	NaN	53	116	---		---	---
WDR43	23160	broad.mit.edu	37	2	29117734	29117735	+	In_Frame_Ins	INS	-	-	CCT			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:29117734_29117735insCCT	uc002rmo.2	+	1	202_203	c.170_171insCCT	c.(169-171)CAC>CACCTC	p.58_59insL		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	58_59	WD 2.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCTTCCGCGCACCTCAGTGGTA	0.678		NaN											NaN	NaN	NaN	NaN	NaN	8	12	---		---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:146755630_146755632delGAC	uc010khw.1	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)GACdel	p.D1099del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1099	Asp/Glu-rich (acidic).|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.65		NaN											NaN	NaN	NaN	NaN	NaN	7	788	---		---	---
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201980309delC	uc001gxg.3	+	1	3237	c.45delC	c.(43-45)TTCfs	p.F15fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.F15fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.F15fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	15					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						GCAACTACTTCAGTGCGATGT	0.577		NaN											NaN	NaN	NaN	NaN	NaN	54	249	---	Valid	---	---
CCDC83	220047	broad.mit.edu	37	11	85627263	85627265	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:85627263_85627265delAGA	uc001pbh.1	+	10	1579_1581	c.1067_1069delAGA	c.(1066-1071)GAGAAG>GAG	p.K357del	CCDC83_uc001pbg.1_In_Frame_Del_p.K388del|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_In_Frame_Del_p.K257del	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	357										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATGAGGATGAGAAGGATTTCAA	0.335		NaN											NaN	NaN	NaN	NaN	NaN	12	127	---		---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:89106662_89106663insA	uc001pct.2	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292		NaN											NaN	NaN	NaN	NaN	NaN	9	180	---		---	---
LINS1	55180	broad.mit.edu	37	15	101109865	101109866	+	Frame_Shift_Del	DEL	AC	AC	-	rs146405261	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:101109865_101109866delAC	uc002bwe.2	-	8	2142_2143	c.1851_1852delGT	c.(1849-1854)CTGTCTfs	p.L617fs	LINS1_uc002bwd.2_Frame_Shift_Del_p.L204fs|LINS1_uc002bwf.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwg.2_Frame_Shift_Del_p.L617fs|LINS1_uc002bwh.2_Frame_Shift_Del_p.L617fs	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	617_618											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CGGGGGGAAGACAGACTAGAAG	0.53		NaN											NaN	NaN	NaN	NaN	NaN	7	95	---		---	---
CCR7	1236	broad.mit.edu	37	17	38711926	38711927	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:38711926_38711927delAA	uc002huw.2	-	3	267_268	c.204_205delTT	c.(202-207)ATTTGTfs	p.I68fs		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	68_69	Helical; Name=1; (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				CCCACGAAACAAATGATGGAGT	0.495		NaN											NaN	NaN	NaN	NaN	NaN	10	105	---		---	---
TOB1	10140	broad.mit.edu	37	17	48941203	48941206	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:48941203_48941206delTGTA	uc002isw.2	-	1	208_211	c.173_176delTACA	c.(172-177)ATACACfs	p.I58fs	TOB1_uc010wmy.1_Frame_Shift_Del_p.I58fs|TOB1_uc010wmz.1_Frame_Shift_Del_p.I58fs|uc002isy.2_5'Flank	NM_005749	NP_005740	P50616	TOB1_HUMAN	transducer of ERBB2, 1	58_59					negative regulation of cell proliferation		SH3/SH2 adaptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTCCCCTATGTGTATACATCTAAA	0.417		NaN											NaN	NaN	NaN	NaN	NaN	24	322	---		---	---
SNRPB	6628	broad.mit.edu	37	20	2443773	2443773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:2443773delC	uc002wfz.1	-	5	684	c.521delG	c.(520-522)GGTfs	p.G174fs	SNRPB_uc002wga.1_Frame_Shift_Del_p.G174fs|SNRPB_uc010zpv.1_Frame_Shift_Del_p.G95fs|SNRPB_uc002wgb.2_Frame_Shift_Del_p.G174fs|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	174					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1						TGGGGGAGGACCCCCACGGCC	0.592		NaN											NaN	NaN	NaN	NaN	NaN	12	252	---		---	---
DGCR8	54487	broad.mit.edu	37	22	20082278	20082279	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:20082278_20082279delAG	uc002zri.2	+	9	2098_2099	c.1748_1749delAG	c.(1747-1749)CAGfs	p.Q583fs	DGCR8_uc010grz.2_Frame_Shift_Del_p.Q550fs|DGCR8_uc002zrj.2_Frame_Shift_Del_p.Q226fs	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	583	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TTTGTTAAACAGACCTCTGAAG	0.55		NaN											NaN	NaN	NaN	NaN	NaN	13	184	---		---	---
ALAS1	211	broad.mit.edu	37	3	52237973	52237978	+	In_Frame_Del	DEL	GCAAAA	GCAAAA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52237973_52237978delGCAAAA	uc003dcy.1	+	5	859_864	c.522_527delGCAAAA	c.(520-528)ATGCAAAAG>ATG	p.QK175del	ALAS1_uc003dcz.1_In_Frame_Del_p.QK175del|ALAS1_uc011bec.1_In_Frame_Del_p.QK192del	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	175_176					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGACATCATGCAAAAGCAAAGACCA	0.422		NaN											NaN	NaN	NaN	NaN	NaN	15	133	---		---	---
SUN1	23353	broad.mit.edu	37	7	896032	896032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:896032delC	uc011jvp.1	+	13	1467	c.1388delC	c.(1387-1389)ACAfs	p.T463fs	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Frame_Shift_Del_p.T380fs|SUN1_uc011jvq.1_Frame_Shift_Del_p.T360fs|SUN1_uc003sjg.2_Frame_Shift_Del_p.T368fs|SUN1_uc011jvr.1_Frame_Shift_Del_p.T261fs|SUN1_uc003sji.2_Frame_Shift_Del_p.T301fs|SUN1_uc003sjk.2_Frame_Shift_Del_p.T102fs	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	490	Perinuclear space.|Potential.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						AAGCAAAAAACAATCAGGTAG	0.418		NaN											NaN	NaN	NaN	NaN	NaN	11	121	---		---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:41166638_41166640delGCT	uc003xnt.2	-	1	341_343	c.39_41delAGC	c.(37-42)GCAGCC>GCC	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	13_14				Missing (in Ref. 1 and 3).	brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764		NaN											NaN	NaN	NaN	NaN	NaN	7	3	---		---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:94486026_94486028delTCC	uc004arj.1	-	9	2947_2949	c.2748_2750delGGA	c.(2746-2751)GAGGAA>GAA	p.916_917EE>E	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916_917	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GACAGAGCCTTCCTCCTCCTCCT	0.645		NaN											NaN	NaN	NaN	NaN	NaN	8	145	---		---	---
POLA1	5422	broad.mit.edu	37	X	24755805	24755805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:24755805delC	uc004dbl.2	+	19	1992	c.1969delC	c.(1969-1971)CCTfs	p.P657fs		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	657	Potential.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	GTGCAAAGCTCCTCACTGGTC	0.338		NaN											NaN	NaN	NaN	NaN	NaN	11	202	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:27057936_27057937insC	uc001bmv.1	+	3	2017_2018	c.1644_1645insC	c.(1642-1647)CAGCCCfs	p.Q548fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q165fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	548_549					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y551fs*72(1)|p.Q548*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	155	276	---	Valid	---	---
RUFY2	55680	broad.mit.edu	37	10	70166569	70166570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70166569_70166570insA	uc001job.2	-	1	377_378	c.50_51insT	c.(49-51)TTGfs	p.L17fs	RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron|RUFY2_uc009xpv.1_Intron|RUFY2_uc001joe.1_Intron	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	Error:Variant_position_missing_in_Q8WXA3_after_alignment						nucleus	metal ion binding			ovary(1)	1						GCACCCAGGCCAAAACCTGAGA	0.708		NaN											NaN	NaN	NaN	NaN	NaN	31	54	---		---	---
CCAR1	55749	broad.mit.edu	37	10	70531073	70531074	+	Frame_Shift_Ins	INS	-	-	A	rs3205757		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70531073_70531074insA	uc001joo.2	+	18	2528_2529	c.2409_2410insA	c.(2407-2412)GATAAAfs	p.D803fs	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Ins_p.D608fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.D777fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.D749fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	803_804	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						aagaaaaggataaaaaaagcaa	0.134		NaN											NaN	NaN	NaN	NaN	NaN	9	26	---		---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:29998498_29998500delCTG	uc002dva.1	+	16	3688_3690	c.2905_2907delCTG	c.(2905-2907)CTGdel	p.L974del	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	974	Leu-rich.|Helical; (Potential).				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCTGCCCCTCCTGCTGCTGCTGC	0.709		NaN											NaN	NaN	NaN	NaN	NaN	7	110	---		---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:77623691_77623692insGGC	uc010xfl.1	+	1	24_25	c.24_25insGGC	c.(22-27)insGGC	p.13_14insG		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	13_14	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.614		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:109049606delT	uc003dxq.3	-	5	499	c.444delA	c.(442-444)AAAfs	p.K148fs	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	148						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CCACCTTTAATTTTTTTTGCA	0.413		NaN											NaN	NaN	NaN	NaN	NaN	7	163	---		---	---
RREB1	6239	broad.mit.edu	37	6	7229719	7229725	+	Frame_Shift_Del	DEL	TCGGCCA	TCGGCCA	-	rs147038452		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:7229719_7229725delTCGGCCA	uc003mxc.2	+	10	1777_1783	c.1387_1393delTCGGCCA	c.(1387-1395)TCGGCCATCfs	p.S463fs	RREB1_uc003mxb.2_Frame_Shift_Del_p.S463fs|RREB1_uc010jnx.2_Frame_Shift_Del_p.S463fs	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	463_465					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGGCGAGTCGGCCATCGAGCTGGC	0.599		NaN											NaN	NaN	NaN	NaN	NaN	103	50	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652057	36652058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:36652057_36652058insG	uc003omm.3	+	2	301_302	c.179_180insG	c.(178-180)GAGfs	p.E60fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E94fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E60fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E60fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	60					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						ACACCACTGGAGGGTGACTTCG	0.668		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	34	29	---	Valid	---	---
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:41303645_41303647delCTG	uc003oqh.2	+	1	118_120	c.31_33delCTG	c.(31-33)CTGdel	p.L15del	NCR2_uc003oqi.2_In_Frame_Del_p.L15del|NCR2_uc003oqj.2_In_Frame_Del_p.L15del	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
ANGPTL5	253935	broad.mit.edu	37	11	101762080	101762080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:101762080delT	uc001pgl.2	-	9	1693	c.1097delA	c.(1096-1098)AACfs	p.N366fs		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	366	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AGGTGAGTTGTTTTTGGTCCA	0.348		NaN											NaN	NaN	NaN	NaN	NaN	7	1294	---		---	---
MMP20	9313	broad.mit.edu	37	11	102487558	102487558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102487558delT	uc001phc.2	-	2	372	c.359delA	c.(358-360)AATfs	p.N120fs		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	120					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TGTCAAAGTATTTTTTTTCCA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	8	296	---		---	---
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr11:102668791_102668793delCAG	uc001phi.2	-	1	174_176	c.31_33delCTG	c.(31-33)CTGdel	p.L11del	uc001phh.1_RNA|MMP1_uc010ruv.1_Intron	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	11					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CACCCCAGAACAGCAGCAGCAGC	0.498		NaN											NaN	NaN	NaN	NaN	NaN	8	339	---		---	---
SSH1	54434	broad.mit.edu	37	12	109194663	109194664	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr12:109194663_109194664delAT	uc001tnm.2	-	12	1127_1128	c.1040_1041delAT	c.(1039-1041)AATfs	p.N347fs	SSH1_uc001tnl.2_Frame_Shift_Del_p.N35fs|SSH1_uc010sxg.1_Frame_Shift_Del_p.N358fs|SSH1_uc001tnn.3_Frame_Shift_Del_p.N347fs	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	347	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CAGGAAAAAAATTATCGATTTC	0.351		NaN											NaN	NaN	NaN	NaN	NaN	36	98	---		---	---
LRRC16A	55604	broad.mit.edu	37	6	25551263	25551264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:25551263_25551264insA	uc011djw.1	+	27	2830_2831	c.2454_2455insA	c.(2452-2457)GTTAAAfs	p.V818fs	LRRC16A_uc010jpx.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc010jpy.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc003nfa.1_Frame_Shift_Ins_p.V172fs	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	818_819					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GTACCTTTGTTAAAAATGTCCT	0.381		NaN											NaN	NaN	NaN	NaN	NaN	40	99	---		---	---
BCLAF1	9774	broad.mit.edu	37	6	136582545	136582545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OS-01A-12D-A21Z-08	TCGA-GD-A3OS-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b3e164d-aaa0-4bb5-b7b8-6264b2746a47	257369d6-d4ac-4b67-8c30-de25dbdb76af	g.chr6:136582545delC	uc003qgx.1	-	12	2868	c.2615delG	c.(2614-2616)GGCfs	p.G872fs	BCLAF1_uc011edb.1_Frame_Shift_Del_p.G151fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.G699fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.G821fs|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Frame_Shift_Del_p.G870fs	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	872					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCGCCCTCTGCCACGTTGAAA	0.428		NaN											NaN	NaN	NaN	NaN	NaN	81	282	---		---	---
ATP1A1	476	broad.mit.edu	37	1	116932977	116932977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr1:116932977delC	uc001ege.2	+	9	1505	c.1166delC	c.(1165-1167)GCCfs	p.A389fs	ATP1A1_uc010owv.1_Frame_Shift_Del_p.A358fs|ATP1A1_uc010oww.1_Frame_Shift_Del_p.A389fs|ATP1A1_uc010owx.1_Frame_Shift_Del_p.A358fs	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	389	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATGACAGTGGCCCACATGTGG	0.413		NaN											NaN	NaN	NaN	NaN	NaN	23	46	---		---	---
PDCD11	22984	broad.mit.edu	37	10	105169473	105169474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr10:105169473_105169474insA	uc001kwy.1	+	8	975_976	c.888_889insA	c.(886-891)CTTACGfs	p.L296fs		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	296_297	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATTTGGCCTTACGCTAAACTT	0.391		NaN											NaN	NaN	NaN	NaN	NaN	51	95	---		---	---
WIF1	11197	broad.mit.edu	37	12	65445160	65445169	+	Frame_Shift_Del	DEL	CGCCGCTCCT	CGCCGCTCCT	-	rs145628728	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr12:65445160_65445169delCGCCGCTCCT	uc001ssk.2	-	10	1245_1254	c.1100_1109delAGGAGCGGCG	c.(1099-1110)GAGGAGCGGCGGfs	p.E367fs		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	367_370					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGGTGGATCCCGCCGCTCCTCGGCCTTTTT	0.495		NaN	T	HMGA2	pleomorphic salivary gland adenoma								NaN	NaN	NaN	NaN	NaN	24	132	---		---	---
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr3:142274739_142274740insT	uc003eux.3	-	10	2442_2443	c.2320_2321insA	c.(2320-2322)ATAfs	p.I774fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGGACTAGGTATTTTTTTTTTC	0.332		NaN						Other_conserved_DNA_damage_response_genes					NaN	NaN	NaN	NaN	NaN	8	189	---		---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr4:1388441_1388442insCG	uc003gdf.2	+	1	3102_3103	c.142_143insCG	c.(142-144)ATGfs	p.M48fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48	1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	7	689	---		---	---
CLDN23	137075	broad.mit.edu	37	8	8560467	8560467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A42R-01A-11D-A23M-08	TCGA-GU-A42R-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f061801-6d8a-4969-8d40-9488aa47ad45	c62e13c2-34be-41a1-a112-8efb3eddd782	g.chr8:8560467delG	uc003wsi.2	+	1	802	c.559delG	c.(559-561)GAGfs	p.E187fs		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTGGTGCGACGAGCGTTGTCG	0.731		NaN											NaN	NaN	NaN	NaN	NaN	9	6	---		---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:150551492_150551494delTCC	uc001euz.2	-	1	643_645	c.513_515delGGA	c.(511-516)GAGGAC>GAC	p.E171del	MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635		NaN											NaN	NaN	NaN	NaN	NaN	7	192	---		---	---
TNR	7143	broad.mit.edu	37	1	175372615	175372615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:175372615delC	uc001gkp.1	-	2	718	c.637delG	c.(637-639)GTGfs	p.V213fs	TNR_uc009wwu.1_Frame_Shift_Del_p.V213fs|TNR_uc010pmz.1_Frame_Shift_Del_p.V213fs	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	213	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TCCACACACACCCCCCGGCTG	0.607		NaN											NaN	NaN	NaN	NaN	NaN	7	611	---		---	---
CACNA1S	779	broad.mit.edu	37	1	201029886	201029886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201029886delT	uc001gvv.2	-	26	3541	c.3314delA	c.(3313-3315)AACfs	p.N1105fs		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1105	Cytoplasmic (Potential).|IV.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTGGTATGGGTTTTTGGGAAT	0.532		NaN											NaN	NaN	NaN	NaN	NaN	7	785	---		---	---
ELF3	1999	broad.mit.edu	37	1	201981520	201981521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr1:201981520_201981521insG	uc001gxg.3	+	3	3626_3627	c.434_435insG	c.(433-435)AAGfs	p.K145fs	ELF3_uc001gxi.3_Frame_Shift_Ins_p.K145fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.K145fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	145	9aaTAD.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CTGCTGGAGAAGGATGGCATGG	0.579		NaN											NaN	NaN	NaN	NaN	NaN	25	184	---	Valid	---	---
JUP	3728	broad.mit.edu	37	17	39681230	39681231	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:39681230_39681231insAG	uc010wfs.1	-	6	1021_1022	c.1013_1014insCT	c.(1012-1014)CTGfs	p.L338fs	KRT19_uc002hxd.3_Frame_Shift_Ins_p.L175fs	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGCTCATGCGCAGAGCCTGTTC	0.584		NaN											NaN	NaN	NaN	NaN	NaN	77	120	---		---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74625715	74625716	+	Frame_Shift_Del	DEL	TG	TG	-	rs8081258	byFrequency	TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr17:74625715_74625716delTG	uc002jsh.2	-	2	383_384	c.209_210delCA	c.(208-210)GCAfs	p.A70fs	ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	70	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						TTGTCCTCCTTGCCCTTGTGGG	0.535		NaN											NaN	NaN	NaN	NaN	NaN	70	141	---		---	---
ZNF578	147660	broad.mit.edu	37	19	53014654	53014654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr19:53014654delG	uc002pzp.3	+	6	1264	c.1020delG	c.(1018-1020)GAGfs	p.E340fs		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACACTGGTGAGAAACCTTACA	0.403		NaN											NaN	NaN	NaN	NaN	NaN	21	119	---		---	---
C20orf186	149954	broad.mit.edu	37	20	31685499	31685501	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr20:31685499_31685501delAGA	uc010zue.1	+	11	1490_1492	c.1475_1477delAGA	c.(1474-1479)CAGAAG>CAG	p.K493del		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	493						cytoplasm|extracellular region	lipid binding				0						GTGATGCTGCAGAAGGACAAAGC	0.576		NaN											NaN	NaN	NaN	NaN	NaN	28	140	---		---	---
FBLN2	2199	broad.mit.edu	37	3	13612699	13612701	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:13612699_13612701delGAG	uc011avb.1	+	2	969_971	c.844_846delGAG	c.(844-846)GAGdel	p.E286del	FBLN2_uc011auz.1_In_Frame_Del_p.E312del|FBLN2_uc011ava.1_In_Frame_Del_p.E286del|FBLN2_uc011avc.1_In_Frame_Del_p.E286del	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	286	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.557		NaN											NaN	NaN	NaN	NaN	NaN	7	350	---		---	---
MAP4	4134	broad.mit.edu	37	3	47913557	47913558	+	In_Frame_Ins	INS	-	-	CCG			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr3:47913557_47913558insCCG	uc003csb.2	-	11	2881_2882	c.2355_2356insCGG	c.(2353-2358)insCGG	p.785_786insR	MAP4_uc003csc.3_In_Frame_Ins_p.785_786insR|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_In_Frame_Ins_p.45_46insR|MAP4_uc011bbe.1_In_Frame_Ins_p.536_537insR|MAP4_uc003cry.2_In_Frame_Ins_p.520_521insR|MAP4_uc003csa.3_In_Frame_Ins_p.520_521insR|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_In_Frame_Ins_p.520_521insR	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	785_786					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GATGGTGAGGCCCGCTTCTCAG	0.55		NaN											NaN	NaN	NaN	NaN	NaN	74	256	---		---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr4:1019055_1019056delCA	uc003gce.2	+	7	1596_1597	c.1435_1436delCA	c.(1435-1437)CACfs	p.H479fs	FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.|Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.46		NaN											NaN	NaN	NaN	NaN	NaN	5	10	---		---	---
C6orf153	88745	broad.mit.edu	37	6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	CGGGGCCCGACGTCCCCG	-	rs60664426		TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	uc003otp.1	+	1	50_67	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)GCCGGGGCCCGACGTCCCCGC>GCC	p.GARRPR15del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	15_20					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			gggccggggccggggcccgacgtccccgcggggcccgg	0.55		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
THSD7A	221981	broad.mit.edu	37	7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG			TCGA-GV-A3JV-01A-11D-A21Z-08	TCGA-GV-A3JV-10B-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fed4b8a-4b59-4424-bbf1-bc73ce041361	f9fd3c7e-20a6-4d48-a45b-6482fdc10173	g.chr7:11871469_11871470insGCAGCG	uc003ssf.3	-	1	355_356	c.103_104insCGCTGC	c.(103-105)CTC>CCGCTGCTC	p.34_35insPL		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34_35						integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcagc	0.436		NaN								HNSCC(18;0.044)			NaN	NaN	NaN	NaN	NaN	4	8	---		---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:24921737_24921739delCAG	uc002dmu.2	+	15	1993_1995	c.1761_1763delCAG	c.(1759-1764)GCCAGC>GCC	p.S592del	SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	592	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542		NaN											NaN	NaN	NaN	NaN	NaN	18	826	---		---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr16:29998498_29998500delCTG	uc002dva.1	+	16	3688_3690	c.2905_2907delCTG	c.(2905-2907)CTGdel	p.L974del	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	974	Leu-rich.|Helical; (Potential).				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCTGCCCCTCCTGCTGCTGCTGC	0.709		NaN											NaN	NaN	NaN	NaN	NaN	7	435	---		---	---
ZNF513	130557	broad.mit.edu	37	2	27600891	27600892	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GV-A3JW-01A-11D-A20D-08	TCGA-GV-A3JW-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4534413b-d0d0-4b34-a3d4-f821705485ae	ce1d3ff8-4d0d-4764-8243-da7b6102d4ea	g.chr2:27600891_27600892delTG	uc002rkk.2	-	4	1346_1347	c.1146_1147delCA	c.(1144-1149)CACAGTfs	p.H382fs	ZNF513_uc002rkj.2_Frame_Shift_Del_p.H320fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	382_383					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.S383C(1)		ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCACCACTGTGTGTCTTCA	0.609		NaN											NaN	NaN	NaN	NaN	NaN	57	160	---		---	---
SPEN	23013	broad.mit.edu	37	1	16262459	16262460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:16262459_16262460insC	uc001axk.1	+	11	9928_9929	c.9724_9725insC	c.(9724-9726)GCCfs	p.A3242fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.A3201fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3242	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCAAAGCTgcccccaccccc	0.431		NaN											NaN	NaN	NaN	NaN	NaN	8	59	---		---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212115191_212115193delTGC	uc001hiw.1	-	20	2967_2969	c.2862_2864delGCA	c.(2860-2865)CAGCAA>CAA	p.954_955QQ>Q	INTS7_uc009xdb.1_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hix.1_In_Frame_Del_p.830_831QQ>Q|INTS7_uc001hiy.1_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.1_In_Frame_Del_p.905_906QQ>Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954_955	Gln-rich.				snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443		NaN											NaN	NaN	NaN	NaN	NaN	9	353	---		---	---
CUBN	8029	broad.mit.edu	37	10	17145185	17145185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:17145185delG	uc001ioo.2	-	13	1521	c.1469delC	c.(1468-1470)CCGfs	p.P490fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	490	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAACATCCGGGCTCCTGTA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	45	73	---		---	---
TMEM126A	84233	broad.mit.edu	37	11	85366703	85366704	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:85366703_85366704insTA	uc001par.2	+	4	442_443	c.346_347insTA	c.(346-348)CTAfs	p.L116fs		NM_032273	NP_115649	Q9H061	T126A_HUMAN	transmembrane protein 126A	116	Helical; (Potential).					integral to membrane|mitochondrion				ovary(2)	2		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATTGGTGGTCTATACCCTGTT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	84	231	---		---	---
BAZ2A	11176	broad.mit.edu	37	12	56999009	56999010	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56999009_56999010insCA	uc001slq.1	-	14	2795_2796	c.2601_2602insTG	c.(2599-2604)GTGCTGfs	p.V867fs	BAZ2A_uc001slp.1_Frame_Shift_Ins_p.V865fs|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.V835fs	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	867_868	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TCAAAGCCCAGCACCTTGCCAA	0.574		NaN											NaN	NaN	NaN	NaN	NaN	25	33	---		---	---
UNKL	64718	broad.mit.edu	37	16	1464642	1464643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:1464642_1464643insG	uc010bro.1	-	1	58_59	c.50_51insC	c.(49-51)CCGfs	p.P17fs	UNKL_uc002clq.2_Frame_Shift_Ins_p.P17fs	NM_001037125	NP_001032202	Q9H9P5	UNKL_HUMAN	unkempt homolog (Drosophila)-like isoform 2	17						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				TCTCAGTCTGCGGGGGGGACCC	0.332		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:43213780delT	uc003bdd.2	-	10	1116	c.896delA	c.(895-897)AATfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TGAGTCAACATTTTTTTTGCC	0.224		NaN											NaN	NaN	NaN	NaN	NaN	7	184	---		---	---
UCP1	7350	broad.mit.edu	37	4	141489036	141489036	+	Frame_Shift_Del	DEL	G	G	-	rs17848358		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:141489036delG	uc011chj.1	-	2	298	c.222delC	c.(220-222)CTCfs	p.L74fs	UCP1_uc011chk.1_Frame_Shift_Del_p.L74fs	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	74	Solcar 1.|Helical; Name=2; (Potential).				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					GCCCGCTGTAGAGTTTCATCC	0.567		NaN											NaN	NaN	NaN	NaN	NaN	71	90	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652112	36652113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:36652112_36652113insC	uc003omm.3	+	2	356_357	c.234_235insC	c.(232-237)CTTCCCfs	p.L78fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L112fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L78fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L78fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	78_79					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						AGCTCTACCTTCCCACGGGGCC	0.663		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	29	7	---	Valid	---	---
KCNV1	27012	broad.mit.edu	37	8	110984590	110984593	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:110984590_110984593delACTT	uc003ynr.3	-	2	1227_1230	c.885_888delAAGT	c.(883-888)CTAAGTfs	p.L295fs	KCNV1_uc010mcw.2_Frame_Shift_Del_p.L295fs	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	295_296	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTGGCTCCCACTTAGGCTCTCTA	0.559		NaN											NaN	NaN	NaN	NaN	NaN	21	62	---		---	---
RUSC2	9853	broad.mit.edu	37	9	35560363	35560363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560363delG	uc003zww.2	+	10	3981	c.3726delG	c.(3724-3726)GAGfs	p.E1242fs	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Frame_Shift_Del_p.E1242fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1242	Poly-Glu.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			aagaggaagaggaagaagagg	0.547		NaN											NaN	NaN	NaN	NaN	NaN	8	16	---		---	---
BARHL2	343472	broad.mit.edu	37	1	91182377	91182377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:91182377delG	uc001dns.2	-	1	418	c.376delC	c.(376-378)CAGfs	p.Q126fs		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	126	Gln/Pro-rich.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCAGCTGCTGGGGGggcggc	0.423		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160589601delT	uc001fwl.3	-	5	1175	c.829delA	c.(829-831)AGCfs	p.S277fs	SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	277	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433		NaN											NaN	NaN	NaN	NaN	NaN	7	488	---		---	---
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:60148570delA	uc001jkf.2	+	4	564	c.432delA	c.(430-432)ACAfs	p.T144fs	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAGCTATGACAAAAAAAAAAG	0.269		NaN											NaN	NaN	NaN	NaN	NaN	8	26	---		---	---
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	uc001kaf.2	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)GCAGCAGCGGCAGTGGCAGCAdel	p.AAAAVAA284del	ZMIZ1_uc001kag.2_In_Frame_Del_p.AAAAVAA160del|ZMIZ1_uc001kah.1_In_Frame_Del_p.AAAAVAA160del	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	284_290	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.511		NaN											NaN	NaN	NaN	NaN	NaN	48	82	---		---	---
PAK6	56924	broad.mit.edu	37	15	40566413	40566424	+	In_Frame_Del	DEL	CCCCAGTGCAAG	CCCCAGTGCAAG	-	rs74468066		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:40566413_40566424delCCCCAGTGCAAG	uc010bbl.2	+	10	2254_2265	c.1814_1825delCCCCAGTGCAAG	c.(1813-1827)TCCCCAGTGCAAGCC>TCC	p.PVQA606del	PAK6_uc010bbm.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zlb.2_In_Frame_Del_p.PVQA606del	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	606_609	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TTCAGTGACTCCCCAGTGCAAGCCATGAAGAG	0.571		NaN									OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	40	87	---		---	---
ANKRD11	29123	broad.mit.edu	37	16	89349651	89349651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89349651delG	uc002fmx.1	-	9	3760	c.3299delC	c.(3298-3300)TCTfs	p.S1100fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.S1057fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1100	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTTTTTCAGAGAAGTCTTC	0.463		NaN											NaN	NaN	NaN	NaN	NaN	22	39	---		---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:3721809_3721811delTCC	uc010ckl.1	-	10	1079_1081	c.1056_1058delGGA	c.(1054-1059)GAGGAA>GAA	p.352_353EE>E	C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	352_353	Glu-rich.						nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.379		NaN											NaN	NaN	NaN	NaN	NaN	9	169	---		---	---
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7606722delC	uc010vuh.1	+	11	1720	c.1565delC	c.(1564-1566)GCGfs	p.A522fs	WRAP53_uc010vui.1_Frame_Shift_Del_p.A522fs|WRAP53_uc002gip.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002gir.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Frame_Shift_Del_p.A489fs|EFNB3_uc002gis.2_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	522					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						TGTGGGGGGGCGCCAGACTCC	0.582		NaN											NaN	NaN	NaN	NaN	NaN	7	179	---		---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39898948_39898950delCAC	uc002olh.1	+	2	648_650	c.590_592delCAC	c.(589-594)TCACCA>TCA	p.P201del	ZFP36_uc010egn.1_In_Frame_Del_p.H73del	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	201	P-P-P-P-G.				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685		NaN											NaN	NaN	NaN	NaN	NaN	8	725	---		---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131129929_131129934delGACGGG	uc002trc.2	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)CAGACGGGG>CAG	p.TG378del	PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	378_379				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.568		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
COL6A2	1292	broad.mit.edu	37	21	47538527	47538527	+	Splice_Site	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:47538527delG	uc002zia.1	+	13	1199	c.1117_splice	c.e13-1	p.G373_splice	COL6A2_uc002zhy.1_Splice_Site_p.G373_splice|COL6A2_uc002zhz.1_Splice_Site_p.G373_splice|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACCCTTCCAGGGGGACCCTG	0.687		NaN											NaN	NaN	NaN	NaN	NaN	21	25	---		---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43525245_43525247delGCT	uc003bdk.2	+	5	477_479	c.417_419delGCT	c.(415-420)GCGCTG>GCG	p.L144del		NM_001197	NP_001188	Q13323	BIK_HUMAN	BCL2-interacting killer	144	Leucine-zipper (Potential).|Helical; (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane					0		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.562		NaN											NaN	NaN	NaN	NaN	NaN	9	163	---		---	---
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:43647213delT	uc003cmv.2	-	2	303	c.132delA	c.(130-132)AAAfs	p.K44fs	ANO10_uc011azs.1_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.2_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.2_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.1_Frame_Shift_Del_p.K44fs	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	44	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						CACCTCCATCTTTTTTTTTAG	0.408		NaN											NaN	NaN	NaN	NaN	NaN	8	77	---		---	---
H1FOO	132243	broad.mit.edu	37	3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:129268112_129268113insG	uc003emu.2	+	3	652_653	c.647_648insG	c.(646-648)AAGfs	p.K216fs	H1FOO_uc003emv.2_Frame_Shift_Ins_p.K77fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	216					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1						GAGGCTAGGAAGGTGCCCCCCA	0.649		NaN											NaN	NaN	NaN	NaN	NaN	3	6	---		---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:1388441_1388442insCG	uc003gdf.2	+	1	3102_3103	c.142_143insCG	c.(142-144)ATGfs	p.M48fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48	1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	9	1049	---		---	---
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:165118286_165118288delTCC	uc011cjk.1	-	1	576_578	c.576_578delGGA	c.(574-579)GAGGAA>GAA	p.192_193EE>E	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	192_193	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.192		NaN											NaN	NaN	NaN	NaN	NaN	5	11	---		---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140502486_140502487insA	uc003lip.1	+	1	906_907	c.906_907insA	c.(904-909)TTGAAAfs	p.L302fs		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	302_303	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	8	138	---		---	---
WBSCR28	135886	broad.mit.edu	37	7	73280067	73280068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73280067_73280068insC	uc003tzk.2	+	3	698_699	c.662_663insC	c.(661-663)CACfs	p.H221fs	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Frame_Shift_Ins_p.H120fs	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	221						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				GCCTTTGAGCACACGACCCAGC	0.629		NaN											NaN	NaN	NaN	NaN	NaN	7	511	---		---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:110455173_110455174insG	uc003yne.2	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322		NaN								HNSCC(38;0.096)			NaN	NaN	NaN	NaN	NaN	8	116	---		---	---
SLC45A4	57210	broad.mit.edu	37	8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:142228490_142228492delGCC	uc003ywd.1	-	4	1402_1404	c.1094_1096delGGC	c.(1093-1098)CGGCAC>CAC	p.R365del	SLC45A4_uc003ywc.1_In_Frame_Del_p.R365del|SLC45A4_uc010meq.1_In_Frame_Del_p.R363del	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	416					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGAACGCGTGCCGCCGCCGCCG	0.675		NaN											NaN	NaN	NaN	NaN	NaN	7	265	---		---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:117406_117407insG	uc003zfz.2	-	1	1011_1012	c.713_714insC	c.(712-714)CCGfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743		NaN											NaN	NaN	NaN	NaN	NaN	7	213	---		---	---
OR8B2	26595	broad.mit.edu	37	11	124252689	124252690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:124252689_124252690insG	uc010sai.1	-	1	550_551	c.550_551insC	c.(550-552)CTCfs	p.L184fs		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGCTGGAGGAGGGGGAGTATG	0.5		NaN											NaN	NaN	NaN	NaN	NaN	11	57	---		---	---
SYT1	6857	broad.mit.edu	37	12	79842725	79842726	+	In_Frame_Ins	INS	-	-	ACA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:79842725_79842726insACA	uc001sys.2	+	12	1761_1762	c.1090_1091insACA	c.(1090-1092)GAC>GACAAC	p.364_365insN	SYT1_uc001syt.2_In_Frame_Ins_p.364_365insN|SYT1_uc001syu.2_In_Frame_Ins_p.361_362insN|SYT1_uc001syv.2_In_Frame_Ins_p.364_365insN	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	364_365	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						AACTGTTTTGGACTATGACAAG	0.49		NaN											NaN	NaN	NaN	NaN	NaN	19	98	---		---	---
ZFP36L1	677	broad.mit.edu	37	14	69256673	69256674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:69256673_69256674insA	uc001xkh.1	-	2	723_724	c.593_594insT	c.(592-594)CTCfs	p.L198fs	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.L198fs	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	198					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTATGCTGGAGGCGGGGACG	0.584		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	29	29	---	Valid	---	---
PDIA3	2923	broad.mit.edu	37	15	44055308	44055308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:44055308delC	uc001zsu.2	+	5	654	c.506delC	c.(505-507)TCCfs	p.S169fs	PDIA3_uc010bdp.2_Frame_Shift_Del_p.S149fs|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	169					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GAGGCTCACTCCGAGTTCCTA	0.398		NaN											NaN	NaN	NaN	NaN	NaN	30	91	---		---	---
ZFP36L2	678	broad.mit.edu	37	2	43452553	43452554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:43452553_43452554insC	uc002rsv.3	-	2	680_681	c.389_390insG	c.(388-390)CGCfs	p.R130fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	130					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCTGGCTGCGATCGCCGTT	0.658		NaN											NaN	NaN	NaN	NaN	NaN	11	16	---		---	---
OSBPL10	114884	broad.mit.edu	37	3	32022461	32022461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:32022461delG	uc003cev.2	-	2	592	c.211delC	c.(211-213)CGCfs	p.R71fs	OSBPL10_uc011axf.1_Frame_Shift_Del_p.R71fs|ZNF860_uc011axg.1_5'Flank	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	71					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TCCCTCCTGCGGCCGCCTCCC	0.642		NaN											NaN	NaN	NaN	NaN	NaN	8	5	---		---	---
PLD1	5337	broad.mit.edu	37	3	171404550	171404550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:171404550delG	uc003fhs.2	-	16	1908	c.1792delC	c.(1792-1794)CATfs	p.H598fs	PLD1_uc003fht.2_Intron	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	598	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTAAACCATGGATTAAATTG	0.333		NaN											NaN	NaN	NaN	NaN	NaN	56	153	---		---	---
HES1	3280	broad.mit.edu	37	3	193854476	193854478	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:193854476_193854478delTGA	uc003ftq.1	+	2	415_417	c.179_181delTGA	c.(178-183)CTGATT>CTT	p.I61del	HES1_uc011bst.1_In_Frame_Del_p.I61del	NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	61	Helix-loop-helix motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CTGAAAACACTGATTTTGGATGC	0.389		NaN											NaN	NaN	NaN	NaN	NaN	23	48	---		---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:92146721delT	uc003uly.2	-	5	1204	c.1108delA	c.(1108-1110)ATTfs	p.I370fs	PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353		NaN											NaN	NaN	NaN	NaN	NaN	7	164	---		---	---
EBF2	64641	broad.mit.edu	37	8	25718601	25718601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:25718601delC	uc003xes.1	-	13	1323	c.1306delG	c.(1306-1308)GTCfs	p.V436fs	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	436					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGATGCTGACCCCAAGCTGG	0.493		NaN											NaN	NaN	NaN	NaN	NaN	53	63	---		---	---
PHF20L1	51105	broad.mit.edu	37	8	133854841	133854842	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:133854841_133854842insA	uc003ytt.2	+	19	2794_2795	c.2469_2470insA	c.(2467-2472)GAGAAAfs	p.E823fs	PHF20L1_uc011lja.1_Frame_Shift_Ins_p.E797fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	823_824							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGGGGTGGAGAAAAAAATAGC	0.381		NaN											NaN	NaN	NaN	NaN	NaN	12	26	---		---	---
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:107361451_107361452delGC	uc011lvp.1	-	1	243_244	c.243_244delGC	c.(241-246)ACGCTAfs	p.T81fs		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	81_82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AAGCTCACTAGCGTGGAGGGAA	0.51		NaN											NaN	NaN	NaN	NaN	NaN	7	55	---		---	---
PTPN3	5774	broad.mit.edu	37	9	112151578	112151590	+	Frame_Shift_Del	DEL	GCCAAAACTGTGC	GCCAAAACTGTGC	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:112151578_112151590delGCCAAAACTGTGC	uc004bed.2	-	22	2288_2300	c.2176_2188delGCACAGTTTTGGC	c.(2176-2190)GCACAGTTTTGGCAGfs	p.A726fs	PTPN3_uc004beb.2_Frame_Shift_Del_p.A595fs|PTPN3_uc004bec.2_Frame_Shift_Del_p.A550fs|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Frame_Shift_Del_p.A681fs|PTPN3_uc011lwh.1_Frame_Shift_Del_p.A572fs|PTPN3_uc011lwd.1_Frame_Shift_Del_p.A194fs|PTPN3_uc011lwe.1_Frame_Shift_Del_p.A439fs|PTPN3_uc011lwf.1_Frame_Shift_Del_p.A394fs	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	726_730	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CAGACAACCTGCCAAAACTGTGCACAGGTATGC	0.465		NaN											NaN	NaN	NaN	NaN	NaN	16	21	---		---	---
FMO5	2330	broad.mit.edu	37	1	146684955	146684955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:146684955delT	uc001epi.2	-	4	796	c.407delA	c.(406-408)AAGfs	p.K136fs	FMO5_uc001eph.3_Frame_Shift_Del_p.K136fs|FMO5_uc001epj.2_Frame_Shift_Del_p.K136fs|FMO5_uc001epk.3_Frame_Shift_Del_p.K136fs	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	136						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					ATTCATCTCCTTTTTCCCTTC	0.473		NaN											NaN	NaN	NaN	NaN	NaN	8	600	---		---	---
TET1	80312	broad.mit.edu	37	10	70446227	70446228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:70446227_70446228insA	uc001jok.3	+	11	5672_5673	c.5167_5168insA	c.(5167-5169)GAAfs	p.E1723fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1723					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TGGCTCCAAGGAAGGAATGGAA	0.495		NaN											NaN	NaN	NaN	NaN	NaN	26	88	---		---	---
CDHR1	92211	broad.mit.edu	37	10	85974343	85974345	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:85974343_85974345delAGA	uc001kcv.2	+	17	2546_2548	c.2546_2548delAGA	c.(2545-2550)GAGAAG>GAG	p.K851del	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_In_Frame_Del_p.K555del|CDHR1_uc001kcx.2_In_Frame_Del_p.K165del	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	851	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CAAAAGTTTGAGAAGAAGAGTGT	0.562		NaN									OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	27	121	---		---	---
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:102107836_102107838delACC	uc001kqy.2	+	2	533_535	c.43_45delACC	c.(43-45)ACCdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	19	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581		NaN											NaN	NaN	NaN	NaN	NaN	8	229	---		---	---
PCNX	22990	broad.mit.edu	37	14	71568799	71568800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:71568799_71568800insT	uc001xmo.2	+	31	6128_6129	c.5682_5683insT	c.(5680-5685)GAAGGGfs	p.E1894fs	PCNX_uc010are.1_Frame_Shift_Ins_p.E1783fs|PCNX_uc010arf.1_Frame_Shift_Ins_p.E682fs|PCNX_uc001xmp.2_Translation_Start_Site	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1894_1895						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAGCCCATGAAGGGGACCCTGC	0.45		NaN											NaN	NaN	NaN	NaN	NaN	25	240	---		---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:57486732_57486734delGAG	uc002elq.2	+	3	278_280	c.262_264delGAG	c.(262-264)GAGdel	p.E91del	COQ9_uc002elp.1_In_Frame_Del_p.E91del|COQ9_uc010vhn.1_In_Frame_Del_p.E91del|COQ9_uc010vho.1_In_Frame_Del_p.E91del|COQ9_uc010vhp.1_In_Frame_Del_p.E91del|COQ9_uc002elr.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	91					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CCAGGGCGGCGAGGAGGAGGAGG	0.576		NaN											NaN	NaN	NaN	NaN	NaN	7	251	---		---	---
AKAP10	11216	broad.mit.edu	37	17	19880956	19880956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:19880956delG	uc002gwo.2	-	1	174	c.37delC	c.(37-39)CGCfs	p.R13fs	AKAP10_uc002gwp.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010cqw.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010vze.1_5'UTR	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	13					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGAGGGTGCGGGGGGACTGG	0.746		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:36054349_36054351delCTT	uc002oal.1	-	2	120_122	c.91_93delAAG	c.(91-93)AAGdel	p.K31del		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	31	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601		NaN											NaN	NaN	NaN	NaN	NaN	7	555	---		---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:55146148_55146150delCTC	uc002qgj.2	+	11	1757_1759	c.1417_1419delCTC	c.(1417-1419)CTCdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	479	Helical; (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)		large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.458		NaN								HNSCC(37;0.09)			NaN	NaN	NaN	NaN	NaN	8	86	---		---	---
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:83785565delT	uc003hnf.2	-	11	1548	c.1384delA	c.(1384-1386)ATTfs	p.I462fs	SEC31A_uc003hne.2_Frame_Shift_Del_p.I234fs|SEC31A_uc011ccl.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnl.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hng.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnh.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hni.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnj.2_Frame_Shift_Del_p.I462fs|SEC31A_uc011ccm.1_Frame_Shift_Del_p.I457fs|SEC31A_uc011ccn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnk.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnm.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hno.2_Frame_Shift_Del_p.I462fs	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	462	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353		NaN											NaN	NaN	NaN	NaN	NaN	7	60	---		---	---
NFE2L3	9603	broad.mit.edu	37	7	26224583	26224584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:26224583_26224584insT	uc003sxq.2	+	4	1537_1538	c.1265_1266insT	c.(1264-1266)TCTfs	p.S422fs		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	422					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						TCTGGCCTTTCTTTAGATTCAA	0.376		NaN											NaN	NaN	NaN	NaN	NaN	82	120	---		---	---
GLI3	2737	broad.mit.edu	37	7	42116455	42116456	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:42116455_42116456insT	uc011kbh.1	-	4	459_460	c.368_369insA	c.(367-369)CACfs	p.H123fs	GLI3_uc011kbg.1_Frame_Shift_Ins_p.H64fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	123					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H123D(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GATGAGGAGGGTCTGAAAAGAA	0.436		NaN							Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				NaN	NaN	NaN	NaN	NaN	12	45	---		---	---
SLC38A2	54407	broad.mit.edu	37	12	46757539	46757540	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr12:46757539_46757540insA	uc001rpg.2	-	12	1463_1464	c.1023_1024insT	c.(1021-1026)CTTGCCfs	p.L341fs	SLC38A2_uc010sli.1_Frame_Shift_Ins_p.L179fs|SLC38A2_uc001rph.2_Frame_Shift_Ins_p.L241fs	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	341_342	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAGAGGGCGGCAAGCAGATACA	0.332		NaN											NaN	NaN	NaN	NaN	NaN	49	46	---		---	---
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr13:47243183_47243186delCCTG	uc001vbj.2	+	3	707_710	c.471_474delCCTG	c.(469-474)GCCCTGfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbk.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.3_Frame_Shift_Del_p.A157fs	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	157_158	LRR 3.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436		NaN											NaN	NaN	NaN	NaN	NaN	7	318	---		---	---
THSD4	79875	broad.mit.edu	37	15	72039168	72039176	+	Splice_Site	DEL	CTGAACCAG	CTGAACCAG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr15:72039168_72039176delCTGAACCAG	uc002atb.1	+	12	2116	c.2037_splice	c.e12-1	p.F679_splice	THSD4_uc002ate.2_Splice_Site_p.F319_splice	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4							proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TCTCTCATTCCTGAACCAGCTGGGACATC	0.584		NaN											NaN	NaN	NaN	NaN	NaN	12	101	---		---	---
MKL2	57496	broad.mit.edu	37	16	14354763	14354764	+	Splice_Site	INS	-	-	A			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr16:14354763_14354764insA	uc010uza.1	+	17	2920	c.2765_splice	c.e17-2	p.E922_splice	MKL2_uc002dcg.2_Splice_Site_p.E872_splice|MKL2_uc002dcj.2_Splice_Site_p.E167_splice	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein						cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TTATTTTACACAGAGATCTCCC	0.361		NaN											NaN	NaN	NaN	NaN	NaN	27	81	---		---	---
FBXW9	84261	broad.mit.edu	37	19	12800930	12800931	+	In_Frame_Ins	INS	-	-	GAA			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr19:12800930_12800931insGAA	uc010dyx.2	-	6	937_938	c.937_938insTTC	c.(937-939)CAT>CTTCAT	p.312_313insL	FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	322_323							protein binding			ovary(1)	1						GCCGGCTTCATGGGTGATGGGC	0.634		NaN											NaN	NaN	NaN	NaN	NaN	23	109	---		---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	4	572_574	c.351_353delCAG	c.(349-354)AGCAGT>AGT	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	117_118	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463		NaN											NaN	NaN	NaN	NaN	NaN	7	312	---		---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr3:100148586_100148588delGAT	uc003dtx.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)GATdel	p.D10del	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.										0						GGAGCACAAAGATGATGATGATG	0.507		NaN											NaN	NaN	NaN	NaN	NaN	9	695	---		---	---
MFSD10	10227	broad.mit.edu	37	4	2932969	2932969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:2932969delC	uc003gfw.2	-	10	1461	c.1147delG	c.(1147-1149)GTGfs	p.V383fs	MFSD10_uc003gfv.2_Frame_Shift_Del_p.V73fs|MFSD10_uc003gfx.2_Frame_Shift_Del_p.V207fs|MFSD10_uc003gfz.2_Frame_Shift_Del_p.V383fs|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Frame_Shift_Del_p.P346fs|MFSD10_uc003ggb.1_Frame_Shift_Del_p.V383fs|MFSD10_uc003ggc.2_Intron	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	383					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGCGACCACGGAGGACAGG	0.692		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
HHIP	64399	broad.mit.edu	37	4	145567851	145567853	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr4:145567851_145567853delGCT	uc003ijs.1	+	1	679_681	c.24_26delGCT	c.(22-27)AAGCTG>AAG	p.L12del	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_In_Frame_Del_p.L12del	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	12						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTCCTTTAAGCTGCTGCTGCTG	0.621		NaN									OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	7	536	---		---	---
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	-	TTC	rs146656804	by1000genomes	TCGA-GV-A3QH-01A-11D-A21Z-08	TCGA-GV-A3QH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ff90f4-7122-475a-84a6-a39cd56c7e46	639c8ae6-127a-474d-b66a-c4a6da661cd7	g.chr8:10467629_10467630insTTC	uc003wtc.2	-	4	4207_4208	c.3978_3979insGAA	c.(3976-3981)insGAA	p.1326_1327insE		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1326_1327					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.084		NaN											NaN	NaN	NaN	NaN	NaN	4	5	---		---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:145457040_145457042delTCT	uc001enp.1	-	7	626_628	c.519_521delAGA	c.(517-522)GAAGAG>GAG	p.173_174EE>E	NBPF10_uc001emp.3_Intron	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	173_174	Glu-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.286		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
CEP350	9857	broad.mit.edu	37	1	180053254	180053254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:180053254delA	uc001gnt.2	+	31	6609	c.6226delA	c.(6226-6228)AAAfs	p.K2076fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.K2075fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.K211fs|CEP350_uc001gnw.1_5'Flank	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2076	Potential.					centrosome|nucleus|spindle				ovary(4)	4						GAAGGAACAGAAAAAAAGGCA	0.423		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
OR6F1	343169	broad.mit.edu	37	1	247875413	247875414	+	Frame_Shift_Del	DEL	AA	AA	-	rs147403383		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875413_247875414delAA	uc001idj.1	-	1	644_645	c.644_645delTT	c.(643-645)TTTfs	p.F215fs		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATAGGAGACAAAGGTGATGAG	0.559		NaN											NaN	NaN	NaN	NaN	NaN	136	96	---		---	---
ATG2A	23130	broad.mit.edu	37	11	64679559	64679560	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64679559_64679560delGT	uc001obx.2	-	8	1199_1200	c.1084_1085delAC	c.(1084-1086)ACTfs	p.T362fs		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	362							protein binding			ovary(1)|central_nervous_system(1)	2						ACACCCACCAGTGTTATCCAGG	0.639		NaN											NaN	NaN	NaN	NaN	NaN	17	99	---		---	---
USP28	57646	broad.mit.edu	37	11	113694349	113694350	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:113694349_113694350delTT	uc001poh.2	-	12	1293_1294	c.1260_1261delAA	c.(1258-1263)AAAATTfs	p.K420fs	USP28_uc001pog.2_Frame_Shift_Del_p.K128fs|USP28_uc010rwy.1_Frame_Shift_Del_p.K295fs|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Frame_Shift_Del_p.K420fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	420_421					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCTGCAGAATTTTTATTTCCT	0.302		NaN											NaN	NaN	NaN	NaN	NaN	25	29	---		---	---
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	uc001sat.2	-	1	356_357	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)TTC>TTTGGAGGTGGCAGCGGCTTC	p.108_108F>FGGGSGF		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.069		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
BAZ1A	11177	broad.mit.edu	37	14	35240754	35240755	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:35240754_35240755delCT	uc001wsk.2	-	21	3831_3832	c.3263_3264delAG	c.(3262-3264)GAGfs	p.E1088fs	BAZ1A_uc001wsl.2_Frame_Shift_Del_p.E1056fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1088					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAATGCCCTGCTCTATTTGAAA	0.366		NaN											NaN	NaN	NaN	NaN	NaN	49	166	---		---	---
CSPG4	1464	broad.mit.edu	37	15	75981450	75981450	+	Frame_Shift_Del	DEL	G	G	-	rs141434179	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75981450delG	uc002baw.2	-	3	2049	c.1956delC	c.(1954-1956)GCCfs	p.A652fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	652	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCTTCAGCGTGGCCGGGGGGC	0.672		NaN											NaN	NaN	NaN	NaN	NaN	63	27	---		---	---
IL32	9235	broad.mit.edu	37	16	3117416	3117416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:3117416delG	uc002cto.2	+	3	265	c.54delG	c.(52-54)ATGfs	p.M18fs	IL32_uc002ctk.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwp.1_Frame_Shift_Del_p.M18fs|IL32_uc010btb.2_Frame_Shift_Del_p.M8fs|IL32_uc002ctl.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctm.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctn.2_Frame_Shift_Del_p.M18fs|IL32_uc010btc.1_Frame_Shift_Del_p.M18fs|IL32_uc002cts.3_Frame_Shift_Del_p.M18fs|IL32_uc002ctp.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwq.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctq.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctr.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctt.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwr.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctu.2_Frame_Shift_Del_p.M18fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	18					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						AGGCCCGAATGGTAATGCTCC	0.552		NaN											NaN	NaN	NaN	NaN	NaN	31	61	---		---	---
KAT2A	2648	broad.mit.edu	37	17	40269467	40269468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40269467_40269468insA	uc002hyx.2	-	10	1635_1636	c.1575_1576insT	c.(1573-1578)AATGTCfs	p.N525fs		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	525_526	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						TGGGAAAAGACATTCTGCAGCC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	13	58	---		---	---
ZNF260	339324	broad.mit.edu	37	19	37005871	37005871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:37005871delT	uc002oee.1	-	4	1114	c.270delA	c.(268-270)AAAfs	p.K90fs	ZNF260_uc002oed.1_Frame_Shift_Del_p.K87fs|ZNF260_uc010eey.1_Frame_Shift_Del_p.K87fs|ZNF260_uc002oef.1_Frame_Shift_Del_p.K87fs	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	90	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GGCTGAAGGCTTTTCCACATT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	34	7	---		---	---
PDE9A	5152	broad.mit.edu	37	21	44108087	44108088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:44108087_44108088insC	uc002zbm.2	+	3	264_265	c.201_202insC	c.(199-204)ATGCCCfs	p.M67fs	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Frame_Shift_Ins_p.A44fs|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Translation_Start_Site|PDE9A_uc002zca.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Translation_Start_Site|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	67_68					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						ACCCCACCATGCCCGCGAATTC	0.574		NaN											NaN	NaN	NaN	NaN	NaN	50	7	---		---	---
FAT1	2195	broad.mit.edu	37	4	187541806	187541807	+	Frame_Shift_Ins	INS	-	-	TTTAGGTGACT			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:187541806_187541807insTTTAGGTGACT	uc003izf.2	-	10	6121_6122	c.5933_5934insAGTCACCTAAA	c.(5932-5934)AAGfs	p.K1978fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1978	Extracellular (Potential).|Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGGGTAAACTTTAGGTGACT	0.45		NaN								HNSCC(5;0.00058)			NaN	NaN	NaN	NaN	NaN	10	231	---		---	---
TRDN	10345	broad.mit.edu	37	6	123892184	123892185	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123892184_123892185delTC	uc003pzj.1	-	2	137_138	c.115_116delGA	c.(115-117)GACfs	p.D39fs	TRDN_uc003pzk.1_Frame_Shift_Del_p.D39fs|TRDN_uc003pzl.1_Frame_Shift_Del_p.D39fs|TRDN_uc010ken.2_Frame_Shift_Del_p.D39fs|TRDN_uc010keo.1_Frame_Shift_Del_p.D39fs	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	39	Cytoplasmic.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CGTCACTATGTCTTCTGTGACT	0.47		NaN											NaN	NaN	NaN	NaN	NaN	29	27	---		---	---
ODZ1	10178	broad.mit.edu	37	X	123518470	123518496	+	In_Frame_Del	DEL	TTCATCACTGTAGTAGTTATGACCTGA	TTCATCACTGTAGTAGTTATGACCTGA	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	uc004euj.2	-	29	6328_6354	c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA	c.(6262-6291)AATCAGGTCATAACTACTACAGTGATGAAA>AAA	p.NQVITTTVM2088del	ODZ1_uc011muj.1_In_Frame_Del_p.NQVITTTVM2094del|ODZ1_uc010nqy.2_In_Frame_Del_p.NQVITTTVM2095del	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2088_2096	YD 15.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTTGGTGTGTTTCATCACTGTAGTAGTTATGACCTGATTTAAATCGT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	8	76	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27107085	27107102	+	In_Frame_Del	DEL	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCGGGCTGCCCGCGCGCT	-	GCGGGCTGCCCGCGCGCT	GCGGGCTGCCCGCGCGCT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:27107085_27107102delGCGGGCTGCCCGCGCGCT	uc001bmv.1	+	20	7069_7086	c.6696_6713delGCGGGCTGCCCGCGCGCT	c.(6694-6714)CGGCGGGCTGCCCGCGCGCTG>CGG	p.RAARAL2233del	ARID1A_uc001bmu.1_In_Frame_Del_p.RAARAL2016del|ARID1A_uc001bmx.1_In_Frame_Del_p.RAARAL1079del|ARID1A_uc009vsm.1_In_Frame_Del_p.RAARAL561del|ARID1A_uc009vsn.1_In_Frame_Del_p.RAARAL475del	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2233_2238					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.L2238fs*40(1)|p.A2235fs*32(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACATGATGCGGCGGGCTGCCCGCGCGCTGCTTGCCTTG	0.573		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	27	123	---	Valid	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr1:120612003_120612004delGG	uc001eik.2	-	1	273_274	c.17_18delCC	c.(16-18)CCCfs	p.P6fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.663		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				NaN	NaN	NaN	NaN	NaN	7	32	---		---	---
PLEKHA7	144100	broad.mit.edu	37	11	16838371	16838390	+	Frame_Shift_Del	DEL	CCTTGGAGAATCCCCCAGCG	CCTTGGAGAATCCCCCAGCG	-	rs142792914		TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr11:16838371_16838390delCCTTGGAGAATCCCCCAGCG	uc001mmo.2	-	11	1838_1857	c.1823_1842delCGCTGGGGGATTCTCCAAGG	c.(1822-1842)TCGCTGGGGGATTCTCCAAGGfs	p.S608fs	PLEKHA7_uc010rcu.1_Frame_Shift_Del_p.S608fs|PLEKHA7_uc010rcv.1_Frame_Shift_Del_p.S182fs|PLEKHA7_uc001mmn.2_Frame_Shift_Del_p.S316fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	608_614	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CCCGTGCCCTCCTTGGAGAATCCCCCAGCGAGATGTCCAC	0.641		NaN											NaN	NaN	NaN	NaN	NaN	9	72	---		---	---
MBD6	114785	broad.mit.edu	37	12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr12:57920934delC	uc001soj.1	+	7	2230	c.2006delC	c.(2005-2007)GCCfs	p.A669fs	MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCACTTTCAGCCCCCCCTACC	0.642		NaN											NaN	NaN	NaN	NaN	NaN	28	24	---		---	---
FLT3	2322	broad.mit.edu	37	13	28609758	28609759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr13:28609758_28609759insT	uc001urw.2	-	12	1552_1553	c.1470_1471insA	c.(1468-1473)AAAGTGfs	p.K490fs	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Ins_p.K490fs	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	490_491	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAAACACTTTTCTGTTAG	0.426		NaN	Mis|O		AML|ALL								NaN	NaN	NaN	NaN	NaN	60	126	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38060758	38060762	+	Frame_Shift_Del	DEL	GCTCC	GCTCC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08			GCTCC	-	GCTCC	GCTCC		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr14:38060758_38060762delGCTCC	uc001wuf.2	-	2	1539_1543	c.1227_1231delGGAGC	c.(1225-1233)TCGGAGCAGfs	p.S409fs	FOXA1_uc010tpz.1_Frame_Shift_Del_p.S376fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	409_411					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTATGCTGCTGCTCCGAGGAGGACA	0.6		NaN											NaN	NaN	NaN	NaN	NaN	11	49	---	Valid	---	---
ITGAE	3682	broad.mit.edu	37	17	3661102	3661104	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr17:3661102_3661104delGAC	uc002fwo.3	-	9	1015_1017	c.916_918delGTC	c.(916-918)GTCdel	p.V306del		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	306	VWFA.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCACCACCATGACCTTGGATGCC	0.532		NaN											NaN	NaN	NaN	NaN	NaN	13	300	---		---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:17160706_17160707delGA	uc002nfe.2	-	11	1320_1321	c.1209_1210delTC	c.(1207-1212)TCTCGTfs	p.S403fs	HAUS8_uc002nff.2_Frame_Shift_Del_p.S402fs|HAUS8_uc002nfg.1_Frame_Shift_Del_p.S341fs|HAUS8_uc002nfh.1_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	403_404					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						CTCCCTGAACGAGAGAGAGAGG	0.495		NaN											NaN	NaN	NaN	NaN	NaN	7	261	---		---	---
ZNF223	7766	broad.mit.edu	37	19	44564985	44564985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr19:44564985delG	uc002oyf.1	+	4	479	c.226delG	c.(226-228)GGGfs	p.G76fs	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				CCAAAGGGAAGGGAATTCAGG	0.338		NaN											NaN	NaN	NaN	NaN	NaN	46	146	---		---	---
ZFP36L2	678	broad.mit.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr2:43452831_43452832insC	uc002rsv.3	-	2	402_403	c.111_112insG	c.(109-114)GGGACGfs	p.G37fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	37_38					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663		NaN											NaN	NaN	NaN	NaN	NaN	21	19	---		---	---
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr3:49005998delC	uc003cvb.2	+	7	882	c.570delC	c.(568-570)CTCfs	p.L190fs	ARIH2_uc003cvc.2_Frame_Shift_Del_p.L190fs|ARIH2_uc003cvf.2_Frame_Shift_Del_p.L108fs|ARIH2_uc010hkl.2_Frame_Shift_Del_p.L190fs	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.378		NaN											NaN	NaN	NaN	NaN	NaN	151	155	---		---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr6:42196333delT	uc003osd.2	-	18	3916	c.3353delA	c.(3352-3354)AAGfs	p.K1118fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542		NaN											NaN	NaN	NaN	NaN	NaN	8	554	---		---	---
GIGYF1	64599	broad.mit.edu	37	7	100283947	100283948	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QK-01B-11D-A23M-08	TCGA-GV-A3QK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba535e3-c48a-4b50-af45-409c099d5be0	b833e093-cd12-441b-9791-fdd25c031925	g.chr7:100283947_100283948insC	uc003uwg.1	-	8	1812_1813	c.803_804insG	c.(802-804)GGAfs	p.G268fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	268	Poly-Gly.									large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCTCCCCCTCCCCGCCCCTC	0.644		NaN											NaN	NaN	NaN	NaN	NaN	7	186	---		---	---
TRPC6	7225	broad.mit.edu	37	11	101341944	101341944	+	Frame_Shift_Del	DEL	T	T	-	rs144927067		TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:101341944delT	uc001pgk.3	-	9	2804	c.2379delA	c.(2377-2379)AAAfs	p.K793fs	TRPC6_uc009ywy.2_Frame_Shift_Del_p.K677fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.K738fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	793	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGGAAACCTTTTTTATGGC	0.393		NaN											NaN	NaN	NaN	NaN	NaN	7	2377	---		---	---
MMP13	4322	broad.mit.edu	37	11	102825997	102825997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:102825997delT	uc001phl.2	-	2	374	c.346delA	c.(346-348)ATGfs	p.M116fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	116					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTTAAATTCATTTTGGACCAT	0.343		NaN											NaN	NaN	NaN	NaN	NaN	9	901	---		---	---
ATM	472	broad.mit.edu	37	11	108142128	108142129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr11:108142128_108142129insT	uc001pkb.1	+	20	3457_3458	c.3072_3073insT	c.(3070-3075)GCATTTfs	p.A1024fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.A1024fs|ATM_uc009yxs.1_RNA	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1024_1025					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAATTGGAGCATTTTGGTAGGT	0.381		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			NaN	NaN	NaN	NaN	NaN	35	250	---	Valid	---	---
MLL2	8085	broad.mit.edu	37	12	49433094	49433094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr12:49433094delG	uc001rta.3	-	33	8277	c.8277delC	c.(8275-8277)CCCfs	p.P2759fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2759					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCCCAGGATGGGGCCACTCA	0.602		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	39	55	---	Valid	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr14:20296055_20296056insT	uc010tkv.1	+	1	448_449	c.448_449insT	c.(448-450)CTTfs	p.L150fs		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53		NaN											NaN	NaN	NaN	NaN	NaN	26	242	---		---	---
NFAT5	10725	broad.mit.edu	37	16	69681191	69681191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr16:69681191delA	uc002exm.1	+	3	1668	c.460delA	c.(460-462)AACfs	p.N154fs	NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Frame_Shift_Del_p.N78fs|NFAT5_uc002exj.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exk.1_Frame_Shift_Del_p.N78fs|NFAT5_uc002exl.1_Frame_Shift_Del_p.N172fs|NFAT5_uc002exn.1_Frame_Shift_Del_p.N172fs	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	154					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTGCTGGATAACAGTCGGAT	0.502		NaN											NaN	NaN	NaN	NaN	NaN	14	115	---		---	---
GAS2L2	246176	broad.mit.edu	37	17	34073205	34073206	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:34073205_34073206insG	uc002hjv.1	-	6	1338_1339	c.1310_1311insC	c.(1309-1311)CCAfs	p.P437fs		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	437					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGTCTTTGTGGGGTGGGGTT	0.599		NaN											NaN	NaN	NaN	NaN	NaN	8	298	---		---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr17:45247389delT	uc002ild.3	-	4	398	c.271delA	c.(271-273)ATCfs	p.I91fs	CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	91	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						CCAGATAAGATTTGTTCCCCT	0.323		NaN											NaN	NaN	NaN	NaN	NaN	8	232	---		---	---
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr19:12430217delA	uc002mtp.2	-	4	860	c.622delT	c.(622-624)TGGfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAACTGGGCCAAAAAAAAGCT	0.393		NaN											NaN	NaN	NaN	NaN	NaN	8	221	---		---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr2:109087883_109087884insA	uc002tec.2	+	6	2252_2253	c.2098_2099insA	c.(2098-2100)GAAfs	p.E700fs	GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	700	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						ACTCAGTTCAGAAAAAAAACAG	0.307		NaN											NaN	NaN	NaN	NaN	NaN	7	545	---		---	---
CABLES2	81928	broad.mit.edu	37	20	60966489	60966494	+	In_Frame_Del	DEL	CTCCGC	CTCCGC	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr20:60966489_60966494delCTCCGC	uc002ycv.2	-	9	1114_1119	c.1107_1112delGCGGAG	c.(1105-1113)ATGCGGAGC>ATC	p.369_371MRS>I		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	369_371					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCGACAGGCTCCGCATCTCCCGCT	0.636		NaN											NaN	NaN	NaN	NaN	NaN	86	231	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36651924	36651925	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:36651924_36651925delAA	uc003omm.3	+	2	168_169	c.46_47delAA	c.(46-48)AAGfs	p.K16fs	CDKN1A_uc011dtq.1_Frame_Shift_Del_p.K50fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.K16fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.K16fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	16	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						ATGCGGCAGCAAGGCCTGCCGC	0.649		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	47	24	---	Valid	---	---
BEND6	221336	broad.mit.edu	37	6	56882036	56882037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:56882036_56882037insT	uc010kab.2	+	5	1137_1138	c.551_552insT	c.(550-552)TGTfs	p.C184fs	BEND6_uc003pdi.3_Frame_Shift_Ins_p.C86fs	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	184	BEN.										0						ATTGCCCGTTGTAACAAGAGCA	0.361		NaN											NaN	NaN	NaN	NaN	NaN	20	30	---		---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:88144700delA	uc003plv.2	+	11	1515	c.1423delA	c.(1423-1425)AAAfs	p.K475fs	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Frame_Shift_Del_p.K475fs	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	475										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269		NaN											NaN	NaN	NaN	NaN	NaN	7	86	---		---	---
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr6:144081695_144081696insA	uc003qjq.3	+	5	709_710	c.579_580insA	c.(577-582)ATTAAAfs	p.I193fs	PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Ins_p.I204fs|PHACTR2_uc003qjr.3_Intron	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	193_194							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569		NaN											NaN	NaN	NaN	NaN	NaN	8	252	---		---	---
SMURF1	57154	broad.mit.edu	37	7	98638102	98638103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chr7:98638102_98638103insC	uc003upu.1	-	14	1846_1847	c.1526_1527insG	c.(1525-1527)GGCfs	p.G509fs	SMURF1_uc003upv.1_Frame_Shift_Ins_p.G483fs|SMURF1_uc003upt.2_Frame_Shift_Ins_p.G483fs	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	509	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCACTGTGAAGCCCCCGTTGAT	0.559		NaN									OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	12	177	---		---	---
RHOXF2B	727940	broad.mit.edu	37	X	119293071	119293071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A40E-01A-12D-A23M-08	TCGA-GV-A40E-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41dea334-9fa2-4ba1-8091-a17d80d8e950	90e12daf-9cc0-48ae-a8b6-f59ff2037384	g.chrX:119293071delA	uc004esl.3	+	2	420	c.230delA	c.(229-231)GAAfs	p.E77fs		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCGGAGAAGAAAAAGATGGC	0.607		NaN											NaN	NaN	NaN	NaN	NaN	18	48	---		---	---
NBPF9	400818	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	-	AG			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:144615246_144615247insAG	uc009wig.1	+	3	190	c.114_splice	c.e3+2	p.L38_splice	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Frame_Shift_Ins_p.K39fs|NBPF9_uc009wii.1_5'UTR|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818							cytoplasm					0						GTAAACCTCAAAGAGATGTTTT	0.47		NaN											NaN	NaN	NaN	NaN	NaN	8	235	---		---	---
TXNIP	10628	broad.mit.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			AAAG	-	AAAG	AAAG		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145440061_145440064delAAAG	uc001enn.3	+	4	836_839	c.495_498delAAAG	c.(493-498)GAAAAGfs	p.E165fs	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.E110fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165_166					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.K166R(1)		ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417		NaN											NaN	NaN	NaN	NaN	NaN	123	642	---	Valid	---	---
PLD2	5338	broad.mit.edu	37	17	4721806	4721807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4721806_4721807insA	uc002fzc.2	+	20	2128_2129	c.2027_2028insA	c.(2026-2028)CGAfs	p.R676fs	PLD2_uc002fzd.2_Frame_Shift_Ins_p.R676fs	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	676	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TGGTGTTACCGAGTCTACGTGC	0.599		NaN											NaN	NaN	NaN	NaN	NaN	19	80	---		---	---
ASNA1	439	broad.mit.edu	37	19	12856516	12856520	+	Frame_Shift_Del	DEL	GCGGG	GCGGG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:12856516_12856520delGCGGG	uc002muv.2	+	4	566_570	c.552_556delGCGGG	c.(550-558)GAGCGGGGCfs	p.E184fs	ASNA1_uc002muw.2_Frame_Shift_Del_p.E183fs	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	184_186					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.E184_L187del(1)		ovary(2)	2					Adenosine triphosphate(DB00171)	CCATCGTGGAGCGGGGCCTGGGCCG	0.644		NaN											NaN	NaN	NaN	NaN	NaN	12	84	---		---	---
ZNF341	84905	broad.mit.edu	37	20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:32336863delC	uc002wzy.2	+	4	494	c.474delC	c.(472-474)GGCfs	p.G158fs	ZNF341_uc002wzx.2_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.2_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	158	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGCCCCAGGGCCCCCCACCTG	0.537		NaN											NaN	NaN	NaN	NaN	NaN	21	49	---		---	---
FSTL5	56884	broad.mit.edu	37	4	162954796	162954796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:162954796delT	uc003iqh.2	-	3	577	c.141delA	c.(139-141)CAAfs	p.Q47fs	FSTL5_uc003iqi.2_Frame_Shift_Del_p.Q46fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.Q46fs|uc011cji.1_Intron	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	47						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTTTCTTGATTTTTTT	0.259		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:39507890delG	uc003oot.2	-	13	1629	c.1534delC	c.(1534-1536)CGCfs	p.R512fs	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Frame_Shift_Del_p.R303fs|KIF6_uc011dua.1_Frame_Shift_Del_p.R512fs|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TTTCCTAGGCGGAAGGGTGGG	0.498		NaN											NaN	NaN	NaN	NaN	NaN	8	254	---		---	---
ARID1A	8289	broad.mit.edu	37	1	27102153	27102153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:27102153delC	uc001bmv.1	+	19	5452	c.5079delC	c.(5077-5079)ATCfs	p.I1693fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1692fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1476fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I539fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.I21fs|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCATCAACATCCTGCTGTATG	0.498		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	27	59	---	Valid	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76481915	76481915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:76481915delA	uc002feu.1	+	7	930	c.545delA	c.(544-546)GAAfs	p.E182fs	CNTNAP4_uc002fev.1_Frame_Shift_Del_p.E94fs|CNTNAP4_uc010chb.1_Frame_Shift_Del_p.E157fs|CNTNAP4_uc002fex.1_Frame_Shift_Del_p.E185fs|CNTNAP4_uc002few.2_Frame_Shift_Del_p.E157fs	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	182	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						CTAGGATCAGAAGTGGTTGAT	0.308		NaN											NaN	NaN	NaN	NaN	NaN	21	69	---		---	---
PTRF	284119	broad.mit.edu	37	17	40556948	40556949	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:40556948_40556949delGC	uc002hzo.2	-	2	1088_1089	c.929_930delGC	c.(928-930)CGCfs	p.R310fs	PTRF_uc010wgi.1_Frame_Shift_Del_p.R292fs	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	310					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGGTCTTGGAGCGCGCGTACAC	0.649		NaN											NaN	NaN	NaN	NaN	NaN	26	94	---		---	---
QPCT	25797	broad.mit.edu	37	2	37596833	37596834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:37596833_37596834insT	uc002rqg.2	+	5	851_852	c.729_730insT	c.(727-732)TTATTGfs	p.L243fs	QPCT_uc002rqh.2_Frame_Shift_Ins_p.L194fs	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	243_244					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTCAGGATTTATTGGTCTTATT	0.366		NaN											NaN	NaN	NaN	NaN	NaN	31	70	---		---	---
TLE4	7091	broad.mit.edu	37	9	82267521	82267521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:82267521delC	uc004ald.2	+	7	1232	c.383delC	c.(382-384)GCCfs	p.A128fs	TLE4_uc004alc.2_Frame_Shift_Del_p.A135fs|TLE4_uc010mpr.2_Frame_Shift_Del_p.A14fs|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Frame_Shift_Del_p.A103fs|TLE4_uc010mps.2_Frame_Shift_Del_p.A128fs|TLE4_uc004alf.2_Frame_Shift_Del_p.A74fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CAACTCCAGGCCCAGCATTTA	0.532		NaN											NaN	NaN	NaN	NaN	NaN	70	174	---		---	---
PGLYRP3	114771	broad.mit.edu	37	1	153270479	153270479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:153270479delG	uc001fbn.1	-	7	1032	c.979delC	c.(979-981)CAGfs	p.Q327fs		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	327					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACAAAGCCTGCCCAGGGGAC	0.587		NaN											NaN	NaN	NaN	NaN	NaN	98	179	---		---	---
BAT2L2	23215	broad.mit.edu	37	1	171484935	171484936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:171484935_171484936insA	uc010pmg.1	+	5	723_724	c.457_458insA	c.(457-459)GAAfs	p.E153fs	BAT2L2_uc001ghq.1_Frame_Shift_Ins_p.E150fs|BAT2L2_uc001ghr.1_Frame_Shift_Ins_p.E155fs	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	153							protein C-terminus binding				0						TGGGGATCAGGAAAAAAAAGAA	0.356		NaN											NaN	NaN	NaN	NaN	NaN	7	249	---		---	---
FAIM3	9214	broad.mit.edu	37	1	207087118	207087119	+	Frame_Shift_Ins	INS	-	-	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207087118_207087119insG	uc001hey.2	-	2	537_538	c.358_359insC	c.(358-360)CTGfs	p.L120fs	FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Frame_Shift_Ins_p.L120fs	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	120	Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					GTGGACATTCAGGGTGACTTTC	0.515		NaN											NaN	NaN	NaN	NaN	NaN	24	116	---		---	---
MYEF2	50804	broad.mit.edu	37	15	48444460	48444460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48444460delC	uc001zwi.3	-	11	1233	c.1109delG	c.(1108-1110)GGTfs	p.G370fs	MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Frame_Shift_Del_p.G370fs	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	370	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCCTCCAAAACCTGGACCATC	0.289		NaN											NaN	NaN	NaN	NaN	NaN	9	33	---		---	---
EPX	8288	broad.mit.edu	37	17	56277646	56277650	+	Frame_Shift_Del	DEL	ATGCC	ATGCC	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:56277646_56277650delATGCC	uc002ivq.2	+	10	1684_1688	c.1598_1602delATGCC	c.(1597-1602)GATGCCfs	p.D533fs		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	533_534					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						AACCGTCAGGATGCCATGTTAGTGG	0.634		NaN									OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NaN	NaN	NaN	NaN	NaN	21	221	---		---	---
SRP68	6730	broad.mit.edu	37	17	74068550	74068550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:74068550delG	uc002jqk.1	-	1	58	c.23delC	c.(22-24)CCAfs	p.P8fs	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Frame_Shift_Del_p.P8fs|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	8					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						gccgccgccTGGGACCTGCTT	0.428		NaN											NaN	NaN	NaN	NaN	NaN	25	124	---		---	---
PREX2	80243	broad.mit.edu	37	8	69011949	69011949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:69011949delT	uc003xxv.1	+	23	2613	c.2586delT	c.(2584-2586)CATfs	p.H862fs	PREX2_uc003xxu.1_Frame_Shift_Del_p.H862fs|PREX2_uc011lez.1_Frame_Shift_Del_p.H797fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	862					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGATGAGCATTTTGTACAAA	0.289		NaN											NaN	NaN	NaN	NaN	NaN	13	80	---		---	---
STAG2	10735	broad.mit.edu	37	X	123189994	123189994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:123189994delC	uc004etz.3	+	13	1552	c.1213delC	c.(1213-1215)CTCfs	p.L405fs	STAG2_uc004eua.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L405fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L405fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	405					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TGAAGAAGTTCTCACTGCAGA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	57	21	---	Valid	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:120612003_120612004delGG	uc001eik.2	-	1	273_274	c.17_18delCC	c.(16-18)CCCfs	p.P6fs	NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.663		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				NaN	NaN	NaN	NaN	NaN	12	22	---		---	---
RHBG	57127	broad.mit.edu	37	1	156339062	156339073	+	In_Frame_Del	DEL	GCCGCGGGCCGG	GCCGCGGGCCGG	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:156339062_156339073delGCCGCGGGCCGG	uc010pho.1	+	1	60_71	c.22_33delGCCGCGGGCCGG	c.(22-33)GCCGCGGGCCGGdel	p.AAGR8del	RHBG_uc010phm.1_In_Frame_Del_p.AAGR8del|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	8_11	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					TCCTAGCCGCGCCGCGGGCCGGCGACTGCAGC	0.67		NaN											NaN	NaN	NaN	NaN	NaN	16	90	---		---	---
ITGA8	8516	broad.mit.edu	37	10	15639284	15639301	+	Splice_Site	DEL	CAGTGGTCGAAATCCCTA	CAGTGGTCGAAATCCCTA	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:15639284_15639301delCAGTGGTCGAAATCCCTA	uc001ioc.1	-	21	2119	c.2119_splice	c.e21-1	p.G707_splice	ITGA8_uc010qcb.1_Splice_Site_p.G692_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						ACTCACAGCTCAGTGGTCGAAATCCCTACAATTGCAAA	0.491		NaN											NaN	NaN	NaN	NaN	NaN	8	36	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38061168	38061169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:38061168_38061169insC	uc001wuf.2	-	2	1132_1133	c.820_821insG	c.(820-822)GCCfs	p.A274fs	FOXA1_uc010tpz.1_Frame_Shift_Ins_p.A241fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	274					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cccgccgccggcccccgGCTGC	0.52		NaN											NaN	NaN	NaN	NaN	NaN	13	3	---	Inconclusive	---	---
PMM2	5373	broad.mit.edu	37	16	8906913	8906918	+	In_Frame_Del	DEL	GAAAAT	GAAAAT	-	rs34258285	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:8906913_8906918delGAAAAT	uc002czf.3	+	7	659_664	c.589_594delGAAAAT	c.(589-594)GAAAATdel	p.EN197del	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_In_Frame_Del_p.EN114del|PMM2_uc010uyh.1_In_Frame_Del_p.EN72del|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_In_Frame_Del_p.EN50del	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	197_198					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						GCGACATGTGGAAAATGACGGTTATA	0.471		NaN											NaN	NaN	NaN	NaN	NaN	18	208	---		---	---
MEGF10	84466	broad.mit.edu	37	5	126784798	126784799	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126784798_126784799insCAAT	uc003kuh.3	+	23	3226_3227	c.2864_2865insCAAT	c.(2863-2865)AACfs	p.N955fs	MEGF10_uc003kui.3_Frame_Shift_Ins_p.N955fs	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	955	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTCAAAAAACAATCAACTGT	0.446		NaN											NaN	NaN	NaN	NaN	NaN	14	23	---		---	---
PRRC1	133619	broad.mit.edu	37	5	126860380	126860381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126860380_126860381insA	uc003kuk.2	+	3	441_442	c.261_262insA	c.(259-264)GTTACTfs	p.V87fs	PRRC1_uc003kuj.3_Frame_Shift_Ins_p.V87fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	87_88	Pro-rich.					Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CACCACTTGTTACTTCTATGCC	0.52		NaN											NaN	NaN	NaN	NaN	NaN	63	98	---		---	---
COL19A1	1310	broad.mit.edu	37	6	70639419	70639419	+	Frame_Shift_Del	DEL	C	C	-	rs112596596	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:70639419delC	uc003pfc.1	+	6	610	c.493delC	c.(493-495)CCTfs	p.P165fs	COL19A1_uc010kam.1_Frame_Shift_Del_p.P61fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	165	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						AGAACTCCGTCCTTTGTTTGA	0.393		NaN											NaN	NaN	NaN	NaN	NaN	6	6	---		---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:138715799_138715800insT	uc004cgr.3	-	10	1396_1397	c.1396_1397insA	c.(1396-1398)ACCfs	p.T466fs	CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	466						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.337		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ADAMTS8	11095	broad.mit.edu	37	11	130286913	130286925	+	Frame_Shift_Del	DEL	TGGTCCCGATGTC	TGGTCCCGATGTC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:130286913_130286925delTGGTCCCGATGTC	uc001qgg.3	-	3	1364_1376	c.1006_1018delGACATCGGGACCA	c.(1006-1020)GACATCGGGACCATTfs	p.D336fs		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	336_340	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTCACAAATGGTCCCGATGTCTGCCACACCC	0.601		NaN											NaN	NaN	NaN	NaN	NaN	8	136	---		---	---
RASSF3	283349	broad.mit.edu	37	12	65088574	65088583	+	Frame_Shift_Del	DEL	ATTTCTTGCG	ATTTCTTGCG	-	rs147804503		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:65088574_65088583delATTTCTTGCG	uc001ssd.2	+	5	719_728	c.599_608delATTTCTTGCG	c.(598-609)AATTTCTTGCGCfs	p.N200fs	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Frame_Shift_Del_p.N130fs	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	200_203	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GAACTACAGAATTTCTTGCGCATCTTGGAC	0.481		NaN											NaN	NaN	NaN	NaN	NaN	14	74	---		---	---
CRY1	1407	broad.mit.edu	37	12	107393605	107393606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:107393605_107393606insT	uc001tmi.3	-	7	1719_1720	c.860_861insA	c.(859-861)TATfs	p.Y287fs		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	287	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						ACAGTTGCCCATAAAGGGAAAG	0.351		NaN											NaN	NaN	NaN	NaN	NaN	19	55	---		---	---
PIPOX	51268	broad.mit.edu	37	17	27380490	27380490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:27380490delC	uc002hdr.1	+	4	863	c.537delC	c.(535-537)AACfs	p.N179fs		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	179					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGAGATAAACCCAGGGCTAC	0.542		NaN											NaN	NaN	NaN	NaN	NaN	7	90	---		---	---
KIAA1267	284058	broad.mit.edu	37	17	44248783	44248783	+	Frame_Shift_Del	DEL	G	G	-	rs142096969	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:44248783delG	uc002ikb.2	-	1	812	c.727delC	c.(727-729)CAAfs	p.Q243fs	KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q243fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	243						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CTGCTTCCTTGAAGTGCCGGC	0.438		NaN											NaN	NaN	NaN	NaN	NaN	12	138	---		---	---
KCNJ16	3773	broad.mit.edu	37	17	68129040	68129055	+	Frame_Shift_Del	DEL	TAGCCAAAGATAACTT	TAGCCAAAGATAACTT	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:68129040_68129055delTAGCCAAAGATAACTT	uc002jin.2	+	5	1298_1313	c.812_827delTAGCCAAAGATAACTT	c.(811-828)GTAGCCAAAGATAACTTTfs	p.V271fs	KCNJ16_uc002jio.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jip.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jiq.2_Frame_Shift_Del_p.V303fs	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	271_276	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG	0.449		NaN											NaN	NaN	NaN	NaN	NaN	10	139	---		---	---
CEP68	23177	broad.mit.edu	37	2	65299062	65299073	+	In_Frame_Del	DEL	CTGCCAGATTCC	CTGCCAGATTCC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:65299062_65299073delCTGCCAGATTCC	uc002sdl.3	+	3	1046_1057	c.832_843delCTGCCAGATTCC	c.(832-843)CTGCCAGATTCCdel	p.LPDS278del	CEP68_uc002sdj.2_In_Frame_Del_p.LPDS278del|CEP68_uc010yqb.1_In_Frame_Del_p.LPDS278del|CEP68_uc002sdk.3_In_Frame_Del_p.LPDS278del|CEP68_uc010yqc.1_In_Frame_Del_p.LPDS278del|CEP68_uc010yqd.1_In_Frame_Del_p.LPDS278del	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	278_281					centrosome organization	centrosome				skin(1)	1						GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT	0.594		NaN											NaN	NaN	NaN	NaN	NaN	8	134	---		---	---
NAT8	9027	broad.mit.edu	37	2	73868318	73868337	+	Frame_Shift_Del	DEL	ACTGTCCACAAAGAGATGAA	ACTGTCCACAAAGAGATGAA	-	rs13538	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA	uc002sji.1	-	2	586_605	c.419_438delTTCATCTCTTTGTGGACAGT	c.(418-438)TTTCATCTCTTTGTGGACAGTfs	p.F140fs		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	140_146	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA	0.568		NaN											NaN	NaN	NaN	NaN	NaN	8	76	---		---	---
GCC2	9648	broad.mit.edu	37	2	109086923	109086924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:109086923_109086924insG	uc002tec.2	+	6	1292_1293	c.1138_1139insG	c.(1138-1140)CGGfs	p.R380fs	GCC2_uc002ted.2_Frame_Shift_Ins_p.R279fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	380	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						TTTTCATGAACGGGAAGACTTA	0.282		NaN											NaN	NaN	NaN	NaN	NaN	35	78	---		---	---
OR2A12	346525	broad.mit.edu	37	7	143793122	143793127	+	In_Frame_Del	DEL	AGATCA	AGATCA	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:143793122_143793127delAGATCA	uc011kty.1	+	1	922_927	c.922_927delAGATCA	c.(922-927)AGATCAdel	p.RS308del		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	308_309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TTGGAAACAGAGATCAATGTGAAGAA	0.427		NaN											NaN	NaN	NaN	NaN	NaN	7	141	---		---	---
ZZZ3	26009	broad.mit.edu	37	1	78098534	78098536	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:78098534_78098536delAGT	uc001dhq.2	-	5	980_982	c.504_506delACT	c.(502-507)ATACTG>ATG	p.168_169IL>M	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_In_Frame_Del_p.168_169IL>M|ZZZ3_uc001dhp.2_In_Frame_Del_p.168_169IL>M	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	168_169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						ACAATCATCCAGTATAAGACATC	0.409		NaN											NaN	NaN	NaN	NaN	NaN	14	223	---		---	---
TXNIP	10628	broad.mit.edu	37	1	145440508	145440509	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr1:145440508_145440509insT	uc001enn.3	+	5	1155_1156	c.814_815insT	c.(814-816)GTTfs	p.V272fs	NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.V217fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	272					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			ovary(2)	2	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCCTTCGAGTTGAATATTCC	0.485		NaN											NaN	NaN	NaN	NaN	NaN	20	184	---	Valid	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:72094757delT	uc001sws.2	+	6	1576	c.993delT	c.(991-993)GGTfs	p.G331fs	TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331	Helical; (Potential).					integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433		NaN											NaN	NaN	NaN	NaN	NaN	7	464	---		---	---
GPR81	27198	broad.mit.edu	37	12	123214852	123214853	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr12:123214852_123214853insC	uc001ucz.2	-	1	277_278	c.34_35insG	c.(34-36)GACfs	p.D12fs	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	12	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGAGATGGTGTCCCCCTCGATG	0.619		NaN											NaN	NaN	NaN	NaN	NaN	8	53	---		---	---
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr15:93545433_93545434insA	uc002bsp.2	+	33	4739_4740	c.4164_4165insA	c.(4162-4167)ATGAAAfs	p.M1388fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388_1389					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.158		NaN											NaN	NaN	NaN	NaN	NaN	7	147	---		---	---
TBC1D24	57465	broad.mit.edu	37	16	2546657	2546657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr16:2546657delG	uc002cql.2	+	2	648	c.508delG	c.(508-510)GACfs	p.D170fs	TBC1D24_uc002cqk.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc002cqm.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	170	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						GAGGCTGATCGACCAGAGCTT	0.632		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
MNT	4335	broad.mit.edu	37	17	2290220	2290220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr17:2290220delG	uc002fur.2	-	6	1976	c.1724delC	c.(1723-1725)CCAfs	p.P575fs		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	575					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGTGCTGACTGGGAAGGAGGG	0.667		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
GPR75	10936	broad.mit.edu	37	2	54080472	54080472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr2:54080472delG	uc002rxo.3	-	2	1693	c.1422delC	c.(1420-1422)CCCfs	p.P474fs	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	474	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGTGTTGATGGGGGTCGAGC	0.493		NaN											NaN	NaN	NaN	NaN	NaN	19	312	---		---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs150114751	byFrequency	TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chr3:137880741_137880743delTCG	uc003erv.2	-	8	1759_1761	c.1623_1625delCGA	c.(1621-1626)GATGAT>GAT	p.541_542DD>D	DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	541_542						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTAAGCTGCATCGTCATCATCAT	0.251		NaN											NaN	NaN	NaN	NaN	NaN	7	110	---		---	---
ARHGEF6	9459	broad.mit.edu	37	X	135814312	135814312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A3WU-01B-11D-A23M-08	TCGA-K4-A3WU-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f22906-0909-46d1-b737-1d949eb8091e	71d73e3d-61ad-4125-875a-5085ebf382af	g.chrX:135814312delT	uc004fab.2	-	6	1143	c.681delA	c.(679-681)AAAfs	p.K227fs	ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.K100fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.K73fs	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	227					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					CTTTGACGGCTTTTGGGGAGA	0.328		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
RBM17	84991	broad.mit.edu	37	10	6139098	6139098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:6139098delA	uc001ijb.2	+	2	296	c.70delA	c.(70-72)AAAfs	p.K24fs	RBM17_uc010qav.1_Frame_Shift_Del_p.K24fs	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	24					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						CAAAAACTTCAAACTTCTGCA	0.478		NaN											NaN	NaN	NaN	NaN	NaN	32	101	---		---	---
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:5603608_5603609insC	uc001qnl.3	+	1	311_312	c.228_229insC	c.(226-231)GGGCCCfs	p.G76fs	NTF3_uc001qnk.3_Frame_Shift_Ins_p.G89fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	76_77					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						AGCGGGGAGGGCCCGCCAAGTC	0.579		NaN											NaN	NaN	NaN	NaN	NaN	37	87	---		---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:41650469_41650471delTCC	uc003azs.2	-	10	2571_2573	c.1101_1103delGGA	c.(1099-1104)GAGGAA>GAA	p.367_368EE>E	RANGAP1_uc003azt.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367_368	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						ctcttctccttcctcctcctcct	0.266		NaN											NaN	NaN	NaN	NaN	NaN	8	120	---		---	---